#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
VIT	5212	broad.mit.edu	37	2	37035650	37035650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37035650C>T	ENST00000389975.3	+	14	1682	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	VIT_ENST00000404084.1_Silent_p.H412H|VIT_ENST00000379242.3_Silent_p.H475H|VIT_ENST00000379241.3_Silent_p.H438H|VIT_ENST00000497382.1_Silent_p.H129H|VIT_ENST00000401530.1_Silent_p.H439H	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	460	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACTCGCTCCACGTGCAGAGCT	0.607																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1423-1425)caC>caT		vitrin							38.0	33.0	35.0					2																	37035650		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37035650C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1380C>T	2.37:g.37035650C>T						VIT_ENST00000379241.3_Silent_p.H438H|VIT_ENST00000497382.1_Silent_p.H129H|VIT_ENST00000389975.3_Silent_p.H460H|VIT_ENST00000404084.1_Silent_p.H412H|VIT_ENST00000401530.1_Silent_p.H439H	p.H475H	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1727	+		all_hematologic(82;0.248)	460			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.1425C>T	CCDS54347.1																																																																																				0.607	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23				
TAF2	6873	broad.mit.edu	37	8	120818592	120818592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120818592C>T	ENST00000378164.2	-	4	647	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	117					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAGGGTCCACAGCACTAACT	0.398																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(349-351)Gtg>Atg		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							167.0	148.0	154.0					8																	120818592		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120818592C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.349G>A	8.37:g.120818592C>T	ENSP00000367406:p.Val117Met						p.V117M	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	647	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		117					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.349G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688807	0.68271	.	.	ENSG00000064313	ENST00000378164	T	0.15718	2.4	5.19	5.19	0.71726	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.37630	1.12	0.80722	D	1	P	0.45986	0.87	P	0.51833	0.681	T	0.00468	-1.1721	10	0.40728	T	0.16	-20.5522	19.0748	0.93156	0.0:1.0:0.0:0.0	.	117	Q6P1X5	TAF2_HUMAN	M	117	ENSP00000367406:V117M	ENSP00000367406:V117M	V	-	1	0	TAF2	120887773	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	7.734000	0.84928	2.582000	0.87167	0.467000	0.42956	GTG		0.398	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		10	152	0	0	0	1	0	10	152				
MOGS	7841	broad.mit.edu	37	2	74689222	74689222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689222C>T	ENST00000233616.4	-	4	1856	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.R459Q|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	565					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCAGGGTCCCGTCCCCGCCA	0.627																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1693-1695)cGg>cAg		mannosyl-oligosaccharide glucosidase							103.0	117.0	113.0					2																	74689222		1966	4155	6121	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689222C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1694G>A	2.37:g.74689222C>T	ENSP00000233616:p.Arg565Gln					MOGS_ENST00000452063.2_Missense_Mutation_p.R459Q|MOGS_ENST00000409065.1_3'UTR	p.R565Q	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1856	-			565					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1694G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560950	0.86335	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.61510	0.1;0.1;0.1	5.06	5.06	0.68205	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85345	0.1098	10	0.62326	D	0.03	-22.3748	15.9585	0.79906	0.0:1.0:0.0:0.0	.	565	Q13724	MOGS_HUMAN	Q	565;459;459	ENSP00000233616:R565Q;ENSP00000388201:R459Q;ENSP00000410992:R459Q	ENSP00000233616:R565Q	R	-	2	0	MOGS	74542730	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.860000	0.75473	2.641000	0.89580	0.563000	0.77884	CGG		0.627	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		49	67	0	0	0	1	0	49	67				
LCTL	197021	broad.mit.edu	37	15	66855883	66855883	+	Missense_Mutation	SNP	C	C	T	rs142935775		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66855883C>T	ENST00000341509.5	-	4	582	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	LCTL_ENST00000537670.1_De_novo_Start_InFrame|LCTL_ENST00000563438.1_5'Flank	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	151					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCAAGGTCACGATGGGAGTG	0.527																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(451-453)Gtg>Atg		lactase-like		C	MET/VAL	1,4401		0,1,2200	155.0	126.0	136.0		451	5.7	1.0	15	dbSNP_134	136	3,8595	3.0+/-9.4	0,3,4296	yes	missense	LCTL	NM_207338.2	21	0,4,6496	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	151/568	66855883	4,12996	2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66855883C>T	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.451G>A	15.37:g.66855883C>T	ENSP00000343490:p.Val151Met					LCTL_ENST00000537670.1_De_novo_Start_InFrame	p.V151M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			4	582	-			151					B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.451G>A	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142346	0.94560	2.27E-4	3.49E-4	ENSG00000188501	ENST00000341509	T	0.38401	1.14	5.67	5.67	0.87782	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.053633	0.64402	D	0.000001	T	0.71187	0.3310	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.78715	-0.2096	10	0.72032	D	0.01	-32.2348	18.7573	0.91837	0.0:1.0:0.0:0.0	.	151	Q6UWM7	LCTL_HUMAN	M	151	ENSP00000343490:V151M	ENSP00000343490:V151M	V	-	1	0	LCTL	64642937	1.000000	0.71417	0.963000	0.40424	0.980000	0.70556	7.355000	0.79434	2.689000	0.91719	0.462000	0.41574	GTG		0.527	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		12	22	0	0	0	1	0	12	22				
IPO9	55705	broad.mit.edu	37	1	201821264	201821264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201821264C>T	ENST00000361565.4	+	5	616	c.547C>T	c.(547-549)Cca>Tca	p.P183S	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	183					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CACACAGATGCCACTTGTTGC	0.363																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(547-549)Cca>Tca		importin 9							107.0	103.0	104.0					1																	201821264		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201821264C>T	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.547C>T	1.37:g.201821264C>T	ENSP00000354742:p.Pro183Ser					IPO9_ENST00000464348.1_3'UTR	p.P183S	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			5	616	+			183					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.547C>T	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298990	0.95574	.	.	ENSG00000198700	ENST00000361565	T	0.65549	-0.16	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.67397	2.05	0.80722	D	1	D	0.57899	0.981	P	0.51742	0.678	T	0.63545	-0.6613	10	0.13853	T	0.58	-4.1778	17.8336	0.88689	0.0:1.0:0.0:0.0	.	183	Q96P70	IPO9_HUMAN	S	183	ENSP00000354742:P183S	ENSP00000354742:P183S	P	+	1	0	IPO9	200087887	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.811000	0.96726	0.557000	0.71058	CCA		0.363	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		10	48	0	0	0	1	0	10	48				
GFM1	85476	broad.mit.edu	37	3	158366903	158366903	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158366903G>T	ENST00000486715.1	+	5	1003	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	GFM1_ENST00000478576.1_Missense_Mutation_p.D216Y|GFM1_ENST00000264263.5_Missense_Mutation_p.D216Y	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGTATTGTAGATCTTATTGA	0.294																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(646-648)Gat>Tat		G elongation factor, mitochondrial 1							151.0	165.0	160.0					3																	158366903		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158366903G>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.646G>T	3.37:g.158366903G>T	ENSP00000419038:p.Asp216Tyr					GFM1_ENST00000478576.1_Missense_Mutation_p.D216Y|GFM1_ENST00000264263.5_Missense_Mutation_p.D216Y	p.D216Y	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	1003	+			216						Missense_Mutation	SNP	ENST00000486715.1	37	c.646G>T	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981549	0.93044	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.76060	-0.99;-0.99;-0.99	6.06	6.06	0.98353	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	H	0.99933	4.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96219	0.9159	10	0.87932	D	0	-20.9444	20.6208	0.99490	0.0:0.0:1.0:0.0	.	216;216;216	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	Y	216	ENSP00000419038:D216Y;ENSP00000418755:D216Y;ENSP00000264263:D216Y	ENSP00000264263:D216Y	D	+	1	0	GFM1	159849597	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.118000	0.94355	2.882000	0.98803	0.655000	0.94253	GAT		0.294	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		41	68	1	0	9.84934e-19	1	1.28642e-18	41	68				
MTCH1	23787	broad.mit.edu	37	6	36945015	36945015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945015G>A	ENST00000373627.5	-	6	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	MTCH1_ENST00000373616.5_Missense_Mutation_p.R221C|MTCH1_ENST00000538808.1_Missense_Mutation_p.R65C	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	221					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACCATGCAGCGCATTGAGATG	0.562											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373627.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(661-663)Cgc>Tgc		mitochondrial carrier 1							112.0	92.0	99.0					6																	36945015		2203	4300	6503	SO:0001583	missense	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36945015G>A	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.661C>T	6.37:g.36945015G>A	ENSP00000362730:p.Arg221Cys		OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	MTCH1_ENST00000373616.5_Missense_Mutation_p.R221C|MTCH1_ENST00000538808.1_Missense_Mutation_p.R65C	p.R221C	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN			6	785	-			221					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37	c.661C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.753713|4.753713	0.89753|0.89753	.|.	.|.	ENSG00000137409|ENSG00000137409	ENST00000373565|ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373550;ENST00000418541;ENST00000460219;ENST00000538808	.|D;D;D;D	.|0.84589	.|-1.87;-1.87;-1.87;-1.87	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Mitochondrial carrier domain (2);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.95023|0.95023	0.8389|0.8389	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.994	D|D	0.96109|0.96109	0.9075|0.9075	6|10	0.02654|0.87932	T|D	1|0	-5.3802|-5.3802	17.9889|17.9889	0.89162|0.89162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|65;203;221;221	.|B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.|.;.;MTCH1_HUMAN;.	V|C	17|221;221;157;157;18;205;65	.|ENSP00000362718:R221C;ENSP00000362730:R221C;ENSP00000419739:R205C;ENSP00000437660:R65C	ENSP00000362666:A17V|ENSP00000338712:R157C	A|R	-|-	2|1	0|0	MTCH1|MTCH1	37052993|37052993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.576000|7.576000	0.82467|0.82467	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.562	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		7	75	0	0	0	1	0	7	75				
WDR1	9948	broad.mit.edu	37	4	10079512	10079512	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10079512C>T	ENST00000499869.2	-	13	1627	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	WDR1_ENST00000502702.1_Silent_p.T338T|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000382451.2_Silent_p.T338T|WDR1_ENST00000382452.2_Silent_p.T478T|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	478					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCCTTCAGCGTGGTGCCCA	0.642																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1432-1434)acG>acA		WD repeat domain 1							36.0	40.0	39.0					4																	10079512		2149	4259	6408	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10079512C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1434G>A	4.37:g.10079512C>T						WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Silent_p.T478T|WDR1_ENST00000502702.1_Silent_p.T338T|WDR1_ENST00000382451.2_Silent_p.T338T	p.T478T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	13	1716	-			478					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1434G>A	CCDS54740.1																																																																																				0.642	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			3	6	0	0	0	1	0	3	6				
SYNRG	11276	broad.mit.edu	37	17	35900587	35900587	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900587A>G	ENST00000339208.6	-	16	3401	c.3261T>C	c.(3259-3261)tcT>tcC	p.S1087S	SYNRG_ENST00000591288.1_Silent_p.S881S|SYNRG_ENST00000394378.2_Silent_p.S1009S|SYNRG_ENST00000345615.4_Silent_p.S1009S|SYNRG_ENST00000346661.4_Silent_p.S1087S|SYNRG_ENST00000585472.1_Silent_p.S1008S|SYNRG_ENST00000502449.2_Silent_p.S964S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1087					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAAAGCTGGAGAAGGAGAAG	0.498																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3259-3261)tcT>tcC		synergin, gamma							110.0	114.0	113.0					17																	35900587		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35900587A>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3261T>C	17.37:g.35900587A>G						SYNRG_ENST00000345615.4_Silent_p.S1009S|SYNRG_ENST00000585472.1_Silent_p.S1008S|SYNRG_ENST00000502449.2_Silent_p.S964S|SYNRG_ENST00000394378.2_Silent_p.S1009S|SYNRG_ENST00000591288.1_Silent_p.S881S|SYNRG_ENST00000346661.4_Silent_p.S1087S	p.S1087S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			16	3401	-			1087					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3261T>C	CCDS11321.1																																																																																				0.498	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		46	65	0	0	0	1	0	46	65				
FGD4	121512	broad.mit.edu	37	12	32760977	32760977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32760977G>T	ENST00000427716.2	+	8	1504	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	FGD4_ENST00000534526.2_Missense_Mutation_p.K497N|FGD4_ENST00000531134.1_Missense_Mutation_p.K445N|FGD4_ENST00000525053.1_Missense_Mutation_p.K472N|FGD4_ENST00000381025.3_Missense_Mutation_p.K112N|FGD4_ENST00000266482.3_Missense_Mutation_p.K112N|FGD4_ENST00000546442.1_Missense_Mutation_p.K267N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	360	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGCTCCTTAAGGACTATCTAA	0.403																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1078-1080)aaG>aaT		FYVE, RhoGEF and PH domain containing 4							162.0	160.0	160.0					12																	32760977		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32760977G>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1080G>T	12.37:g.32760977G>T	ENSP00000394487:p.Lys360Asn					FGD4_ENST00000534526.2_Missense_Mutation_p.K497N|FGD4_ENST00000546442.1_Missense_Mutation_p.K267N|FGD4_ENST00000381025.3_Missense_Mutation_p.K112N|FGD4_ENST00000266482.3_Missense_Mutation_p.K112N|FGD4_ENST00000531134.1_Missense_Mutation_p.K445N|FGD4_ENST00000525053.1_Missense_Mutation_p.K472N	p.K360N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			8	1504	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		360			DH.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1080G>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430459	0.62844	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.47	2.6	0.31112	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000044	T	0.57740	0.2074	M	0.79123	2.44	0.50313	D	0.999864	D;P;D;D	0.89917	0.971;0.95;1.0;1.0	P;P;D;D	0.87578	0.884;0.836;0.998;0.983	T	0.63431	-0.6639	10	0.87932	D	0	-25.2448	11.2983	0.49290	0.1948:0.0:0.8052:0.0	.	472;445;360;112	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	N	497;445;360;112;267;472;112	ENSP00000449273:K497N;ENSP00000431323:K445N;ENSP00000394487:K360N;ENSP00000266482:K112N;ENSP00000446695:K267N;ENSP00000433666:K472N;ENSP00000370413:K112N	ENSP00000266482:K112N	K	+	3	2	FGD4	32652244	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.105000	0.31086	1.285000	0.44548	0.650000	0.86243	AAG		0.403	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		8	162	1	0	1.06961e-07	1	1.26574e-07	8	162				
GUF1	60558	broad.mit.edu	37	4	44682469	44682469	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:44682469C>T	ENST00000281543.5	+	2	371	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAAACTTGACATGTCTAGGT	0.338																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(175-177)gaC>gaT		GUF1 GTPase homolog (S. cerevisiae)							59.0	57.0	57.0					4																	44682469		2203	4300	6503	SO:0001819	synonymous_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44682469C>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.177C>T	4.37:g.44682469C>T						GUF1_ENST00000506793.1_Intron	p.D59D	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			2	371	+			59						Silent	SNP	ENST00000281543.5	37	c.177C>T	CCDS3468.1																																																																																				0.338	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		4	13	0	0	0	1	0	4	13				
UBR5	51366	broad.mit.edu	37	8	103354859	103354859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103354859C>T	ENST00000520539.1	-	9	1546	c.940G>A	c.(940-942)Gtt>Att	p.V314I	UBR5_ENST00000521922.1_Missense_Mutation_p.V308I|UBR5_ENST00000220959.4_Missense_Mutation_p.V314I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	314					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAACGTAAAACGGATTCACGT	0.458																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(940-942)Gtt>Att		ubiquitin protein ligase E3 component n-recognin 5							117.0	102.0	108.0					8																	103354859		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103354859C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.940G>A	8.37:g.103354859C>T	ENSP00000429084:p.Val314Ile					UBR5_ENST00000220959.4_Missense_Mutation_p.V314I|UBR5_ENST00000521922.1_Missense_Mutation_p.V308I	p.V314I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		9	1546	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		314					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.940G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559807	0.86335	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44083	0.94;0.94;0.93	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.54772	0.968;0.968	P;P	0.56343	0.796;0.796	T	0.45323	-0.9269	10	0.41790	T	0.15	.	18.9293	0.92558	0.0:1.0:0.0:0.0	.	308;314	E7EMW7;O95071	.;UBR5_HUMAN	I	314;314;308	ENSP00000429084:V314I;ENSP00000220959:V314I;ENSP00000427819:V308I	ENSP00000220959:V314I	V	-	1	0	UBR5	103424035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.535000	0.85469	0.650000	0.86243	GTT		0.458	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		29	64	0	0	0	1	0	29	64				
DLGAP3	58512	broad.mit.edu	37	1	35370053	35370053	+	Missense_Mutation	SNP	C	C	T	rs141061512		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35370053C>T	ENST00000373347.1	-	3	1200	c.932G>A	c.(931-933)cGc>cAc	p.R311H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R311H|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	311					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCAAGGCAGCGGCCTTCCGA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16121	0.0		0.0	False		,,,				2504	0.0					ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(931-933)cGc>cAc		discs, large (Drosophila) homolog-associated protein 3		C	HIS/ARG	9,4397	15.5+/-35.6	1,7,2195	46.0	48.0	47.0		932	4.5	1.0	1	dbSNP_134	47	0,8600		0,0,4300	yes	missense	DLGAP3	NM_001080418.1	29	1,7,6495	TT,TC,CC		0.0,0.2043,0.0692	possibly-damaging	311/980	35370053	9,12997	2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370053C>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.932G>A	1.37:g.35370053C>T	ENSP00000362444:p.Arg311His					DLGAP3_ENST00000235180.4_Missense_Mutation_p.R311H	p.R311H			O95886	DLGP3_HUMAN			3	1200	-		Myeloproliferative disorder(586;0.0393)	311					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.932G>A	CCDS30670.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.86	3.239569	0.58995	0.002043	0.0	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.26223	1.75;1.75	4.49	4.49	0.54785	.	0.185625	0.45867	D	0.000322	T	0.17365	0.0417	N	0.22421	0.69	0.30991	N	0.721435	D	0.61697	0.99	P	0.45099	0.469	T	0.11179	-1.0598	10	0.87932	D	0	-14.1285	5.5721	0.17202	0.0:0.7582:0.0:0.2418	.	311	O95886	DLGP3_HUMAN	H	311	ENSP00000362444:R311H;ENSP00000235180:R311H	ENSP00000235180:R311H	R	-	2	0	DLGAP3	35142640	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.584000	0.67490	2.492000	0.84095	0.655000	0.94253	CGC		0.647	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		28	37	0	0	0	1	0	28	37				
NCK1	4690	broad.mit.edu	37	3	136665137	136665137	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136665137G>A	ENST00000481752.1	+	3	1103	c.939G>A	c.(937-939)tcG>tcA	p.S313S	NCK1_ENST00000288986.2_Splice_Site_p.S313S|IL20RB_ENST00000484501.1_3'UTR|NCK1_ENST00000469404.1_Splice_Site_p.S249S			P16333	NCK1_HUMAN	NCK adaptor protein 1	313	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGAATCTTCGGTAAGTTGAT	0.388																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.e2+1		NCK adaptor protein 1							77.0	74.0	75.0					3																	136665137		2196	4286	6482	SO:0001630	splice_region_variant	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136665137G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.939+1G>A	3.37:g.136665137G>A						IL20RB_ENST00000484501.1_3'UTR|NCK1_ENST00000288986.2_Splice_Site_p.S313_splice|NCK1_ENST00000481752.1_Splice_Site_p.S313_splice	p.S249_splice	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			2	838	+			313			SH3 3.		B7Z751|D3DNE3	Splice_Site	SNP	ENST00000481752.1	37	c.747_splice	CCDS3092.1																																																																																				0.388	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153	Silent	29	75	0	0	0	1	0	29	75				
CSMD2	114784	broad.mit.edu	37	1	34052140	34052140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052140A>G	ENST00000373381.4	-	46	7191	c.7015T>C	c.(7015-7017)Tac>Cac	p.Y2339H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2341	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTGCAGGTAGGTTCCAAGT	0.478																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7015-7017)Tac>Cac		CUB and Sushi multiple domains 2							109.0	99.0	102.0					1																	34052140		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34052140A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7015T>C	1.37:g.34052140A>G	ENSP00000362479:p.Tyr2339His						p.Y2339H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			46	7191	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2341			Sushi 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7015T>C		.	.	.	.	.	.	.	.	.	.	A	12.02	1.811899	0.32053	.	.	ENSG00000121904	ENST00000373381	T	0.63255	-0.03	5.83	4.7	0.59300	Complement control module (2);Sushi/SCR/CCP (3);	0.057516	0.64402	D	0.000002	T	0.23133	0.0559	N	0.00621	-1.32	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.21930	-1.0231	10	0.15499	T	0.54	.	3.673	0.08281	0.722:0.0:0.278:0.0	.	2341;2339	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	2339	ENSP00000362479:Y2339H	ENSP00000241312:Y2341H	Y	-	1	0	CSMD2	33824727	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	6.444000	0.73452	2.227000	0.72691	0.528000	0.53228	TAC		0.478	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		24	33	0	0	0	1	0	24	33				
MAPK1	5594	broad.mit.edu	37	22	22143097	22143097	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22143097C>T	ENST00000215832.6	-	5	798	c.610G>A	c.(610-612)Ggc>Agc	p.G204S	MAPK1_ENST00000398822.3_Splice_Site_p.G204S|MAPK1_ENST00000544786.1_Splice_Site_p.G204S	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	TTGGTGTAGCCCTGCAGGAGA	0.453																																						ENST00000215832.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e5-1		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						68.0	58.0	62.0					22																	22143097		2203	4300	6503	SO:0001630	splice_region_variant	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22143097C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.610-1G>A	22.37:g.22143097C>T						MAPK1_ENST00000398822.3_Splice_Site_p.G204_splice|MAPK1_ENST00000544786.1_Splice_Site_p.G204_splice	p.G204_splice	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	5	798	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	204			Protein kinase.		A8CZ64	Splice_Site	SNP	ENST00000215832.6	37	c.609_splice	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356823	0.82243	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.65916	-0.18;-0.18;-0.18	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	N	0.03115	-0.41	0.80722	D	1	B;P	0.39311	0.167;0.667	B;P	0.48488	0.117;0.579	T	0.63976	-0.6515	10	0.54805	T	0.06	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	204;204	A8CZ64;P28482	.;MK01_HUMAN	S	204;192;204;204	ENSP00000215832:G204S;ENSP00000381803:G204S;ENSP00000440842:G204S	ENSP00000215832:G204S	G	-	1	0	MAPK1	20473097	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.593000	0.82686	2.529000	0.85273	0.655000	0.94253	GGC		0.453	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2		Missense_Mutation	18	16	0	0	0	1	0	18	16				
RSRC2	65117	broad.mit.edu	37	12	122990173	122990173	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122990173A>C	ENST00000331738.7	-	10	1351	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	RSRC2_ENST00000354654.2_Missense_Mutation_p.N354K|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	402							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAGCATCTAAATTTCGAAATA	0.393																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(1204-1206)aaT>aaG		arginine/serine-rich coiled-coil 2							172.0	146.0	155.0					12																	122990173		2203	4300	6503	SO:0001583	missense	65117							g.chr12:122990173A>C	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1206T>G	12.37:g.122990173A>C	ENSP00000330188:p.Asn402Lys					RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.N354K	p.N402K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	10	1351	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		402					Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.1206T>G	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670367	0.47677	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	T;T	0.47869	0.83;0.84	6.04	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	L	0.48642	1.525	0.52099	D	0.99994	D;D;D	0.61080	0.989;0.989;0.968	D;D;D	0.70487	0.969;0.969;0.969	T	0.56208	-0.8017	10	0.46703	T	0.11	.	8.2822	0.31906	0.7916:0.0:0.2083:0.0	.	354;402;171	Q7L4I2-2;Q7L4I2;B3KMH4	.;RSRC2_HUMAN;.	K	402;354	ENSP00000330188:N402K;ENSP00000346678:N354K	ENSP00000330188:N402K	N	-	3	2	RSRC2	121556126	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.926000	0.40084	1.123000	0.41961	0.529000	0.55759	AAT		0.393	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		36	67	0	0	0	1	0	36	67				
NFS1	9054	broad.mit.edu	37	20	34285617	34285617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34285617G>A	ENST00000374092.4	-	3	383	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	ROMO1_ENST00000374077.3_5'Flank|NFS1_ENST00000540053.1_De_novo_Start_InFrame|ROMO1_ENST00000374078.1_5'Flank|NFS1_ENST00000541387.1_Missense_Mutation_p.R105C|NFS1_ENST00000397425.1_Missense_Mutation_p.R45C|ROMO1_ENST00000374072.1_5'Flank|NFS1_ENST00000374085.1_Missense_Mutation_p.R45C|ROMO1_ENST00000397416.1_5'Flank|ROMO1_ENST00000336695.4_5'Flank|NFS1_ENST00000306750.3_Missense_Mutation_p.R105C	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	105					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TGACGAGCACGTTCCATGGCT	0.542																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(313-315)Cgt>Tgt		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						103.0	93.0	96.0					20																	34285617		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34285617G>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.313C>T	20.37:g.34285617G>A	ENSP00000363205:p.Arg105Cys					NFS1_ENST00000541387.1_Missense_Mutation_p.R105C|NFS1_ENST00000374085.1_Missense_Mutation_p.R45C|NFS1_ENST00000540053.1_De_novo_Start_InFrame|NFS1_ENST00000306750.3_Missense_Mutation_p.R105C|NFS1_ENST00000397425.1_Missense_Mutation_p.R45C	p.R105C	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		3	383	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		105					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.313C>T	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149413	0.78001	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000541387;ENST00000537772;ENST00000419569;ENST00000306750	D;D;D;T;D;D	0.87179	-2.22;-2.22;-2.22;1.88;-2.22;-2.22	5.75	4.8	0.61643	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.536026	0.19726	N	0.107473	D	0.88706	0.6509	M	0.63208	1.945	0.80722	D	1	D;B;P	0.53151	0.958;0.074;0.939	P;B;P	0.53062	0.594;0.041;0.717	D	0.88331	0.2968	10	0.62326	D	0.03	-7.3022	9.2454	0.37523	0.0715:0.0:0.6692:0.2593	.	105;105;105	F5GYK5;Q8WV90;Q9Y697	.;.;NFS1_HUMAN	C	105;45;45;105;105;45;105	ENSP00000363205:R105C;ENSP00000363198:R45C;ENSP00000380570:R45C;ENSP00000440897:R105C;ENSP00000393482:R45C;ENSP00000304740:R105C	ENSP00000304740:R105C	R	-	1	0	NFS1	33749031	0.999000	0.42202	0.932000	0.37286	0.985000	0.73830	3.046000	0.49846	1.443000	0.47586	0.591000	0.81541	CGT		0.542	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		18	28	0	0	0	1	0	18	28				
TRBV19	28568	broad.mit.edu	37	7	142326544	142326544	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142326544G>A	ENST00000390393.3	+	0	182									T cell receptor beta variable 19																		CAAGTGCTTGGAGCTCCAAGA	0.532																																						ENST00000390393.3																			0																				62.0	62.0	62.0					7																	142326544		1850	4093	5943			0							g.chr7:142326544G>A	U48260		7q34	2012-02-07			ENSG00000211746	ENSG00000211746		"""T cell receptors / TRB locus"""	12194	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV17S1A1T, TCRBV19S1			OTTHUMG00000158877		7.37:g.142326544G>A														0	182	+									RNA	SNP	ENST00000390393.3	37																																																																																						0.532	TRBV19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352485.2	NG_001333		20	50	0	0	0	1	0	20	50				
NSMAF	8439	broad.mit.edu	37	8	59498535	59498535	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498535C>A	ENST00000038176.3	-	29	2683	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V	NSMAF_ENST00000427130.2_Missense_Mutation_p.G855V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	824					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				gccatctgttcctgtgctgag	0.443																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(2470-2472)gGa>gTa		neutral sphingomyelinase (N-SMase) activation associated factor							131.0	110.0	118.0					8																	59498535		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59498535C>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2471G>T	8.37:g.59498535C>A	ENSP00000038176:p.Gly824Val					NSMAF_ENST00000427130.2_Missense_Mutation_p.G855V	p.G824V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			29	2683	-		all_lung(136;0.174)|Lung NSC(129;0.2)	824					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.2471G>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167048	0.78339	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.64260	-0.09;-0.09	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.050025	0.85682	D	0.000000	T	0.81273	0.4788	M	0.90483	3.12	0.80722	D	1	P;D	0.53619	0.947;0.961	P;P	0.60541	0.723;0.876	D	0.84190	0.0444	9	.	.	.	.	16.4496	0.83976	0.0:1.0:0.0:0.0	.	855;824	Q92636-2;Q92636	.;FAN_HUMAN	V	824;855	ENSP00000038176:G824V;ENSP00000411012:G855V	.	G	-	2	0	NSMAF	59661089	0.997000	0.39634	0.979000	0.43373	0.891000	0.51852	5.626000	0.67777	2.742000	0.94016	0.591000	0.81541	GGA		0.443	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		7	83	1	0	0.0293803	1	0.0301098	7	83				
TNPO3	23534	broad.mit.edu	37	7	128641247	128641247	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641247C>T	ENST00000265388.5	-	6	881	c.738G>A	c.(736-738)tcG>tcA	p.S246S	TNPO3_ENST00000393245.1_Silent_p.S246S|TNPO3_ENST00000482320.1_Silent_p.S180S|TNPO3_ENST00000471234.1_Silent_p.S246S|TNPO3_ENST00000471166.1_Silent_p.S246S			Q9Y5L0	TNPO3_HUMAN	transportin 3	246					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATACACAGTCCGAAGCAGCTT	0.473																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(736-738)tcG>tcA		transportin 3							254.0	218.0	230.0					7																	128641247		2203	4300	6503	SO:0001819	synonymous_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128641247C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.738G>A	7.37:g.128641247C>T						TNPO3_ENST00000471234.1_Silent_p.S246S|TNPO3_ENST00000471166.1_Silent_p.S246S|TNPO3_ENST00000265388.5_Silent_p.S246S|TNPO3_ENST00000482320.1_Silent_p.S180S	p.S246S	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			6	1111	-			246					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	c.738G>A	CCDS5809.1																																																																																				0.473	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		62	170	0	0	0	1	0	62	170				
ACAD10	80724	broad.mit.edu	37	12	112184890	112184890	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112184890A>G	ENST00000313698.4	+	15	2449	c.2294A>G	c.(2293-2295)gAg>gGg	p.E765G	ACAD10_ENST00000392636.2_Missense_Mutation_p.E367G|ACAD10_ENST00000455480.2_Missense_Mutation_p.E796G|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	765						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCAACATGGAGCTGCTGGTG	0.547																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2386-2388)gAg>gGg		acyl-CoA dehydrogenase family, member 10							87.0	74.0	79.0					12																	112184890		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112184890A>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2294A>G	12.37:g.112184890A>G	ENSP00000325137:p.Glu765Gly					ACAD10_ENST00000313698.4_Missense_Mutation_p.E765G|ACAD10_ENST00000392636.2_Missense_Mutation_p.E367G|ACAD10_ENST00000413681.3_3'UTR	p.E796G	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			16	2564	+			765					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2387A>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022730	0.54683	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000313698	D;D;D	0.99711	-6.49;-6.49;-6.49	5.83	4.67	0.58626	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.253277	0.36854	N	0.002373	D	0.99816	0.9919	H	0.97491	4.015	0.43267	D	0.995214	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.97110	1.0;0.985;0.684	D	0.97115	0.9807	10	0.87932	D	0	.	12.2899	0.54812	0.858:0.142:0.0:0.0	.	796;765;765	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	G	367;765;796;765	ENSP00000376411:E367G;ENSP00000389813:E796G;ENSP00000325137:E765G	ENSP00000325137:E765G	E	+	2	0	ACAD10	110669273	1.000000	0.71417	0.995000	0.50966	0.027000	0.11550	6.417000	0.73337	1.015000	0.39444	-0.316000	0.08728	GAG		0.547	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		3	50	0	0	0	1	0	3	50				
CTC1	80169	broad.mit.edu	37	17	8137903	8137903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8137903G>A	ENST00000315684.8	-	10	1695	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	563					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGAGGCCCAGGCCTTACGCTG	0.617																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1687-1689)gCc>gTc		CTS telomere maintenance complex component 1							54.0	62.0	60.0					17																	8137903		2064	4194	6258	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8137903G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1688C>T	17.37:g.8137903G>A	ENSP00000313759:p.Ala563Val						p.A563V	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			10	1695	-			563					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1688C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	12.41	1.929970	0.34096	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83992	-1.79;-1.79	5.44	2.31	0.28768	.	0.457422	0.21555	N	0.072662	T	0.74718	0.3753	L	0.53249	1.67	0.30671	N	0.753349	B	0.26483	0.15	B	0.23419	0.046	T	0.66646	-0.5871	10	0.35671	T	0.21	-14.2089	5.6466	0.17592	0.1772:0.162:0.6608:0.0	.	563	Q2NKJ3	CTC1_HUMAN	V	563;528	ENSP00000313759:A563V;ENSP00000396018:A528V	ENSP00000313759:A563V	A	-	2	0	CTC1	8078628	1.000000	0.71417	0.982000	0.44146	0.521000	0.34408	3.436000	0.52856	0.267000	0.21916	0.500000	0.49745	GCC		0.617	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		3	9	0	0	0	1	0	3	9				
GNB1	2782	broad.mit.edu	37	1	1722020	1722020	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1722020G>A	ENST00000378609.4	-	9	844	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	171					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCCGGTCTCGATGTCCCACA	0.542																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(511-513)atC>atT		guanine nucleotide binding protein (G protein), beta polypeptide 1							103.0	76.0	85.0					1																	1722020		2203	4300	6503	SO:0001819	synonymous_variant	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1722020G>A	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.513C>T	1.37:g.1722020G>A							p.I171I	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	844	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	171					B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	ENST00000378609.4	37	c.513C>T	CCDS34.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445144	0.25987	.	.	ENSG00000078369	ENST00000424622	.	.	.	5.11	0.274	0.15654	.	.	.	.	.	T	0.44307	0.1287	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23583	-1.0184	4	.	.	.	-8.2006	3.9745	0.09468	0.3956:0.0:0.2936:0.3108	.	.	.	.	L	29	.	.	S	-	2	0	GNB1	1711880	0.069000	0.21087	1.000000	0.80357	0.999000	0.98932	-0.633000	0.05483	0.155000	0.19261	0.655000	0.94253	TCG		0.542	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		3	16	0	0	0	1	0	3	16				
ZNF695	57116	broad.mit.edu	37	1	247163244	247163244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247163244C>T	ENST00000339986.7	-	2	283	c.136G>A	c.(136-138)Gat>Aat	p.D46N	ZNF695_ENST00000487338.2_Missense_Mutation_p.D46N|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(136-138)Gat>Aat		zinc finger protein 695							70.0	75.0	73.0					1																	247163244		2188	4294	6482	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247163244C>T		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.136G>A	1.37:g.247163244C>T	ENSP00000341236:p.Asp46Asn					ZNF695_ENST00000487338.2_Missense_Mutation_p.D46N|ZNF695_ENST00000498046.2_Intron	p.D46N	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	283	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	46			KRAB.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.136G>A	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.505237	0.00992	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.00776	5.71;5.71	0.588	0.588	0.17445	Krueppel-associated box (3);	.	.	.	.	T	0.01189	0.0039	N	0.20685	0.6	0.20764	N	0.999857	P;D	0.60575	0.805;0.988	P;P	0.62885	0.539;0.908	T	0.55335	-0.8157	8	0.13470	T	0.59	.	.	.	.	.	46;46	Q8IW36;Q8IW36-1	ZN695_HUMAN;.	N	46	ENSP00000429736:D46N;ENSP00000341236:D46N	ENSP00000341236:D46N	D	-	1	0	ZNF695	245229867	0.950000	0.32346	0.640000	0.29408	0.054000	0.15201	1.382000	0.34374	0.536000	0.28733	0.195000	0.17529	GAT		0.418	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		15	34	0	0	0	1	0	15	34				
CCDC13	152206	broad.mit.edu	37	3	42772013	42772013	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42772013G>T	ENST00000310232.6	-	13	1747	c.1664C>A	c.(1663-1665)gCt>gAt	p.A555D	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	555										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACCTCGGCAGCCTGCCAGAG	0.607																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1663-1665)gCt>gAt		coiled-coil domain containing 13							88.0	84.0	85.0					3																	42772013		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42772013G>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1664C>A	3.37:g.42772013G>T	ENSP00000309836:p.Ala555Asp						p.A555D	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			13	1747	-			555						Missense_Mutation	SNP	ENST00000310232.6	37	c.1664C>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741083	0.89573	.	.	ENSG00000244607	ENST00000310232	T	0.12361	2.69	5.76	5.76	0.90799	.	0.274240	0.36034	N	0.002823	T	0.37945	0.1022	M	0.77103	2.36	0.42174	D	0.991659	D	0.69078	0.997	D	0.68192	0.956	T	0.05801	-1.0863	10	0.19590	T	0.45	.	18.734	0.91748	0.0:0.0:1.0:0.0	.	555	Q8IYE1	CCD13_HUMAN	D	555	ENSP00000309836:A555D	ENSP00000309836:A555D	A	-	2	0	CCDC13	42747017	1.000000	0.71417	0.964000	0.40570	0.971000	0.66376	6.039000	0.70972	2.726000	0.93360	0.655000	0.94253	GCT		0.607	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		4	39	1	0	0.00024832	1	0.0002712	4	39				
ZNF507	22847	broad.mit.edu	37	19	32844694	32844694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844694C>T	ENST00000311921.4	+	2	1150	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ZNF507_ENST00000544431.1_Missense_Mutation_p.P320S|ZNF507_ENST00000355898.5_Missense_Mutation_p.P320S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCACAATGGGCCATCAGTGCA	0.498																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(958-960)Cca>Tca		zinc finger protein 507							186.0	173.0	177.0					19																	32844694		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844694C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.958C>T	19.37:g.32844694C>T	ENSP00000312277:p.Pro320Ser					ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.P320S|ZNF507_ENST00000544431.1_Missense_Mutation_p.P320S	p.P320S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1150	+	Esophageal squamous(110;0.162)		320					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.958C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791733	0.50102	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.05786	3.7;3.7;3.39	5.91	5.91	0.95273	.	0.435447	0.28718	N	0.014363	T	0.07458	0.0188	L	0.41236	1.265	0.41635	D	0.989048	P;B	0.43094	0.799;0.053	B;B	0.33339	0.162;0.032	T	0.23868	-1.0176	10	0.42905	T	0.14	.	20.3057	0.98631	0.0:1.0:0.0:0.0	.	320;320	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	S	320	ENSP00000348162:P320S;ENSP00000312277:P320S;ENSP00000441549:P320S	ENSP00000312277:P320S	P	+	1	0	ZNF507	37536534	0.971000	0.33674	0.999000	0.59377	0.937000	0.57800	3.500000	0.53318	2.791000	0.96007	0.655000	0.94253	CCA		0.498	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		70	123	0	0	0	1	0	70	123				
PPM1D	8493	broad.mit.edu	37	17	58701094	58701094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58701094G>A	ENST00000305921.3	+	2	917	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	229	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGAACGAATCGAAGGACTTGG	0.433																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(685-687)Gaa>Aaa		protein phosphatase, Mg2+/Mn2+ dependent, 1D							134.0	115.0	122.0					17																	58701094		2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58701094G>A	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.685G>A	17.37:g.58701094G>A	ENSP00000306682:p.Glu229Lys						p.E229K	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		2	917	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		229			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.685G>A	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218754	0.79464	.	.	ENSG00000170836	ENST00000305921;ENST00000544712;ENST00000392995	T;T	0.19806	2.12;2.12	5.22	5.22	0.72569	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	M	0.66378	2.025	0.80722	D	1	P	0.41393	0.748	B	0.38921	0.285	T	0.07673	-1.0760	10	0.49607	T	0.09	-15.8189	19.1373	0.93433	0.0:0.0:1.0:0.0	.	229	O15297	PPM1D_HUMAN	K	229;77;229	ENSP00000306682:E229K;ENSP00000376720:E229K	ENSP00000306682:E229K	E	+	1	0	PPM1D	56055876	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.592000	0.82676	2.590000	0.87494	0.563000	0.77884	GAA		0.433	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		11	21	0	0	0	1	0	11	21				
ABCC11	85320	broad.mit.edu	37	16	48258282	48258282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48258282G>A	ENST00000394747.1	-	4	803	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ABCC11_ENST00000353782.5_Missense_Mutation_p.L152F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L152F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L152F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L152F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	152					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ATCACCAGAAGCACTGAAGCT	0.488																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(454-456)Ctt>Ttt		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							124.0	106.0	112.0					16																	48258282		2200	4300	6500	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48258282G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.454C>T	16.37:g.48258282G>A	ENSP00000378230:p.Leu152Phe					ABCC11_ENST00000353782.5_Missense_Mutation_p.L152F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L152F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L152F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L152F	p.L152F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			4	803	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	152					Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.454C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	4.973	0.180711	0.09443	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	4.45	-7.59	0.01308	ABC transporter, transmembrane domain, type 1 (1);	1.200680	0.05867	N	0.623980	T	0.77605	0.4155	N	0.17800	0.525	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.68957	-0.5272	10	0.08179	T	0.78	0.404	0.4562	0.00509	0.2559:0.2251:0.2913:0.2277	.	152;152	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	152	ENSP00000311326:L152F;ENSP00000349017:L152F;ENSP00000378231:L152F;ENSP00000378230:L152F;ENSP00000438530:L152F	ENSP00000311326:L152F	L	-	1	0	ABCC11	46815783	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.992000	0.03724	-0.956000	0.03631	-1.783000	0.00646	CTT		0.488	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		16	51	0	0	0	1	0	16	51				
SLC9A5	6553	broad.mit.edu	37	16	67286472	67286472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67286472C>A	ENST00000299798.11	+	2	280	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	72					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAAGTAACATCTCTGGTCCCT	0.517																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(214-216)tCt>tAt		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							147.0	143.0	144.0					16																	67286472		1998	4167	6165	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67286472C>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.215C>A	16.37:g.67286472C>A	ENSP00000299798:p.Ser72Tyr					SLC9A5_ENST00000561472.2_Intron	p.S72Y	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	2	280	+		Ovarian(137;0.0563)	72					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.215C>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513784	0.85389	.	.	ENSG00000135740	ENST00000299798	T	0.56776	0.44	5.01	5.01	0.66863	Cation/H+ exchanger (1);	0.063558	0.64402	D	0.000010	T	0.63129	0.2485	L	0.41632	1.29	0.44956	D	0.997972	D	0.61697	0.99	P	0.62298	0.9	T	0.66352	-0.5945	10	0.66056	D	0.02	.	17.3093	0.87205	0.0:1.0:0.0:0.0	.	72	Q14940	SL9A5_HUMAN	Y	72	ENSP00000299798:S72Y	ENSP00000299798:S72Y	S	+	2	0	SLC9A5	65843973	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	6.023000	0.70848	2.324000	0.78689	0.655000	0.94253	TCT		0.517	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			20	143	1	0	1.9806e-07	1	2.3338e-07	20	143				
INO80C	125476	broad.mit.edu	37	18	33060526	33060526	+	Splice_Site	SNP	C	C	T	rs150273392		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33060526C>T	ENST00000334598.7	-	2	274	c.158G>A	c.(157-159)gGt>gAt	p.G53D	INO80C_ENST00000590757.1_Intron|INO80C_ENST00000586489.1_5'UTR|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Splice_Site_p.G89D|INO80C_ENST00000592173.1_Splice_Site_p.G53D	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	53					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CATGCTGATACCCTTAAAACA	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21539	0.0		0.0	False		,,,				2504	0.0					ENST00000592173.1																			0				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						c.e2-1		INO80 complex subunit C		C	ASP/GLY,ASP/GLY	9,4397	14.3+/-33.2	0,9,2194	102.0	97.0	99.0		266,158	5.9	1.0	18	dbSNP_134	99	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice	INO80C	NM_001098817.1,NM_194281.3	94,94	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	probably-damaging,probably-damaging	89/229,53/193	33060526	9,12997	2203	4300	6503	SO:0001630	splice_region_variant	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33060526C>T		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.157-1G>A	18.37:g.33060526C>T						INO80C_ENST00000590757.1_Intron|INO80C_ENST00000586489.1_5'UTR|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Splice_Site_p.G89_splice|INO80C_ENST00000334598.7_Splice_Site_p.G53_splice	p.G53_splice			Q6PI98	IN80C_HUMAN			2	216	-			53					B4DUI4|E9PCS7|Q86WR1|Q8N994	Splice_Site	SNP	ENST00000334598.7	37	c.156_splice	CCDS11914.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.71	1.426072	0.25726	0.002043	0.0	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	5.88	5.88	0.94601	.	0.343965	0.30392	N	0.009735	T	0.43411	0.1246	L	0.36672	1.1	0.80722	D	1	B;B;B	0.28419	0.051;0.006;0.211	B;B;B	0.22601	0.01;0.003;0.04	T	0.36768	-0.9734	9	0.02654	T	1	.	15.7372	0.77853	0.0:1.0:0.0:0.0	.	89;53;53	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	D	53;89;53	.	ENSP00000283410:G53D	G	-	2	0	INO80C	31314524	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	3.814000	0.55643	2.788000	0.95919	0.555000	0.69702	GGT		0.448	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281	Missense_Mutation	27	45	0	0	0	1	0	27	45				
ARIH2	10425	broad.mit.edu	37	3	49004629	49004629	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49004629T>C	ENST00000356401.4	+	6	798	c.459T>C	c.(457-459)tcT>tcC	p.S153S	ARIH2_ENST00000449376.1_Silent_p.S153S|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	153					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACCTACTCTCTCTGGCCTGTC	0.557																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(457-459)tcT>tcC		ariadne RBR E3 ubiquitin protein ligase 2							183.0	157.0	166.0					3																	49004629		2203	4300	6503	SO:0001819	synonymous_variant	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49004629T>C	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.459T>C	3.37:g.49004629T>C						ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.S153S	p.S153S	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	6	798	+			153					Q9HBZ6|Q9UEM9	Silent	SNP	ENST00000356401.4	37	c.459T>C	CCDS2780.1																																																																																				0.557	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		13	115	0	0	0	1	0	13	115				
ALG11	440138	broad.mit.edu	37	13	52602699	52602699	+	Silent	SNP	A	A	G	rs188332164		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52602699A>G	ENST00000521508.1	+	4	1457	c.1452A>G	c.(1450-1452)ctA>ctG	p.L484L	ALG11_ENST00000523764.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	484					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGACATTCCTATCATCTGTGG	0.308													A|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.001		0.0	False		,,,				2504	0.0					ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(1450-1452)ctA>ctG		ALG11, alpha-1,2-mannosyltransferase		A	,	0,4404		0,0,2202	44.0	46.0	45.0		1452,	-9.7	0.0	13		45	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,utr-5	UTP14C,ALG11	NM_001004127.2,NM_021645.5	,	0,3,6499	GG,GA,AA		0.0349,0.0,0.0231	,	484/493,	52602699	3,13001	2202	4300	6502	SO:0001819	synonymous_variant	440138							g.chr13:52602699A>G	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1452A>G	13.37:g.52602699A>G						UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.L484L	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	4	1457	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	ENST00000521508.1	37	c.1452A>G	CCDS31977.1																																																																																				0.308	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		4	45	0	0	0	1	0	4	45				
MYL2	4633	broad.mit.edu	37	12	111352092	111352092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111352092G>A	ENST00000228841.8	-	4	219	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MYL2_ENST00000548438.1_Nonsense_Mutation_p.R44*	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	58	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in CMH10; dbSNP:rs28933099). {ECO:0000269|PubMed:12404107, ECO:0000269|PubMed:12818575, ECO:0000269|PubMed:9535554}.		cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACGTTCACTCGCCCTAGGGTA	0.453																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(172-174)Cga>Tga		myosin, light chain 2, regulatory, cardiac, slow							94.0	86.0	89.0					12																	111352092		2203	4300	6503	SO:0001587	stop_gained	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111352092G>A		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.172C>T	12.37:g.111352092G>A	ENSP00000228841:p.Arg58*					MYL2_ENST00000548438.1_Nonsense_Mutation_p.R44*	p.R58*	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN			4	219	-			58		R -> Q (in CMH10; dbSNP:rs28933099).	EF-hand 1.		Q16123	Nonsense_Mutation	SNP	ENST00000228841.8	37	c.172C>T	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	G	38	6.817476	0.97861	.	.	ENSG00000111245	ENST00000228841;ENST00000548438;ENST00000550439	.	.	.	4.88	4.88	0.63580	.	0.056705	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7959	0.85602	0.0:0.0:1.0:0.0	.	.	.	.	X	58;44;39	.	.	R	-	1	2	MYL2	109836475	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.047000	0.93823	2.270000	0.75569	0.561000	0.74099	CGA		0.453	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		8	28	0	0	0	1	0	8	28				
ROR1	4919	broad.mit.edu	37	1	64605866	64605866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64605866C>T	ENST00000371079.1	+	6	1060	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	ROR1_ENST00000371080.1_Missense_Mutation_p.H229Y|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	229	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCCCTGTGCCACTATGCCTT	0.463																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(685-687)Cac>Tac		receptor tyrosine kinase-like orphan receptor 1							133.0	110.0	118.0					1																	64605866		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64605866C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.685C>T	1.37:g.64605866C>T	ENSP00000360120:p.His229Tyr					ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.H229Y|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	p.H229Y	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			6	1060	+			229			FZ.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.685C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194799	0.78902	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.76186	-1.0;-1.0	5.92	5.92	0.95590	Frizzled domain (2);	0.000000	0.45606	D	0.000357	T	0.68302	0.2986	N	0.10733	0.035	0.80722	D	1	B;D	0.62365	0.101;0.991	B;D	0.76575	0.071;0.988	T	0.69128	-0.5227	10	0.24483	T	0.36	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	229;229	Q01973;Q66K77	ROR1_HUMAN;.	Y	229;229;232	ENSP00000360121:H229Y;ENSP00000360120:H229Y	ENSP00000360120:H229Y	H	+	1	0	ROR1	64378454	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.072000	0.71238	2.822000	0.97130	0.650000	0.86243	CAC		0.463	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		14	29	0	0	0	1	0	14	29				
NEGR1	257194	broad.mit.edu	37	1	72241855	72241855	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:72241855C>A	ENST00000357731.5	-	3	774	c.535G>T	c.(535-537)Gca>Tca	p.A179S	NEGR1_ENST00000434200.1_Splice_Site_p.V177F|NEGR1_ENST00000306821.3_Splice_Site_p.A51S|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	179	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCTACTTTACCTGATGGGGAG	0.408																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.e3+1		neuronal growth regulator 1							104.0	90.0	95.0					1																	72241855		2203	4300	6503	SO:0001630	splice_region_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72241855C>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.535+1G>T	1.37:g.72241855C>A						NEGR1_ENST00000306821.3_Splice_Site_p.A51_splice|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Splice_Site_p.V177_splice	p.A179_splice	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	3	774	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	179			Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Splice_Site	SNP	ENST00000357731.5	37	c.535_splice	CCDS661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.100376|4.100376	0.76983|0.76983	.|.	.|.	ENSG00000172260|ENSG00000172260	ENST00000357731;ENST00000306821|ENST00000434200	T;T|T	0.27720|0.73047	1.65;1.65|-0.71	5.97|5.97	5.97|5.97	0.96955|0.96955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.051214|.	0.85682|.	D|.	0.000000|.	T|T	0.45955|0.45955	0.1368|0.1368	N|N	0.11284|0.11284	0.12|0.12	0.33865|0.33865	D|D	0.634224|0.634224	B|B	0.22983|0.21071	0.078|0.051	B|B	0.31101|0.36092	0.124|0.217	T|T	0.41893|0.41893	-0.9483|-0.9483	9|8	.|.	.|.	.|.	-12.6994|-12.6994	19.2102|19.2102	0.93751|0.93751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	179|177	Q7Z3B1|B4DI94	NEGR1_HUMAN|.	S|F	179;51|177	ENSP00000350364:A179S;ENSP00000305938:A51S|ENSP00000413294:V177F	.|.	A|V	-|-	1|1	0|0	NEGR1|NEGR1	72014443|72014443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	5.313000|5.313000	0.65798|0.65798	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCA|GTT		0.408	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808	Missense_Mutation	10	16	1	0	3.86212e-05	1	4.30401e-05	10	16				
NOS3	4846	broad.mit.edu	37	7	150698337	150698337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150698337G>A	ENST00000484524.1	+	10	1252	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	NOS3_ENST00000461406.1_Missense_Mutation_p.V212M|NOS3_ENST00000297494.3_Missense_Mutation_p.V418M|NOS3_ENST00000467517.1_Missense_Mutation_p.V418M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCACCATCGTGGACCACCA	0.637																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1252-1254)Gtg>Atg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						76.0	80.0	79.0					7																	150698337		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698337G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1252G>A	7.37:g.150698337G>A	ENSP00000420215:p.Val418Met					NOS3_ENST00000461406.1_Missense_Mutation_p.V212M|NOS3_ENST00000484524.1_Missense_Mutation_p.V418M|NOS3_ENST00000467517.1_Missense_Mutation_p.V418M	p.V418M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1609	+	all_neural(206;0.219)		418			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1252G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096993	0.56075	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.51477	D	0.000083	T	0.39410	0.1077	L	0.51853	1.615	0.53005	D	0.999966	D;D;P;P;D	0.61080	0.987;0.987;0.539;0.935;0.989	P;P;B;B;B	0.53266	0.722;0.722;0.314;0.388;0.435	T	0.07290	-1.0780	10	0.17369	T	0.5	-25.0924	16.0746	0.80960	0.0:0.0:1.0:0.0	.	418;418;418;212;418	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	418;212;418;418	ENSP00000297494:V418M;ENSP00000417143:V212M;ENSP00000420215:V418M;ENSP00000420551:V418M	ENSP00000297494:V418M	V	+	1	0	NOS3	150329270	1.000000	0.71417	0.961000	0.40146	0.501000	0.33797	8.012000	0.88631	2.373000	0.80994	0.561000	0.74099	GTG		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		70	57	0	0	0	1	0	70	57				
PTPRS	5802	broad.mit.edu	37	19	5210574	5210574	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5210574C>T	ENST00000587303.1	-	34	5492	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	PTPRS_ENST00000353284.2_Missense_Mutation_p.R1351H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1798H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1778H|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1799H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1760H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1351H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1760H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1798	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCGGGCAGAGCGCTCGGCCGG	0.597																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5395-5397)cGc>cAc		protein tyrosine phosphatase, receptor type, S							88.0	80.0	83.0					19																	5210574		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5210574C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5393G>A	19.37:g.5210574C>T	ENSP00000467537:p.Arg1798His					PTPRS_ENST00000348075.2_Missense_Mutation_p.R1760H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1798H|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1351H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1351H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1760H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1798H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1778H	p.R1799H			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	35	5629	-			1798			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5396G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.275757	0.59649	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	2.32	2.32	0.28847	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.084010	0.44285	U	0.000479	T	0.26376	0.0644	L	0.42632	1.34	0.80722	D	1	D;P;D;P;D;D	0.89917	1.0;0.856;1.0;0.891;0.997;0.999	D;B;D;P;D;D	0.76575	0.988;0.239;0.975;0.555;0.933;0.985	T	0.02339	-1.1174	10	0.59425	D	0.04	.	11.9652	0.53031	0.0:1.0:0.0:0.0	.	1380;1351;1355;1760;1798;1393	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	H	1393;1799;1798;1798;1789;1778;1760;1380;1355;1351	ENSP00000361489:R1799H;ENSP00000349932:R1798H;ENSP00000262963:R1778H;ENSP00000269907:R1760H;ENSP00000327313:R1351H	ENSP00000262963:R1778H	R	-	2	0	PTPRS	5161574	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.524000	0.81866	1.297000	0.44761	0.486000	0.48141	CGC		0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			8	39	0	0	0	1	0	8	39				
GAA	2548	broad.mit.edu	37	17	78078631	78078631	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78078631C>T	ENST00000302262.3	+	2	465	c.246C>T	c.(244-246)tgC>tgT	p.C82C	GAA_ENST00000390015.3_Silent_p.C82C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	82	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCACACAGTGCGACGTCCCCC	0.677																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(244-246)tgC>tgT		glucosidase, alpha; acid	Acarbose(DB00284)						32.0	31.0	31.0					17																	78078631		2201	4298	6499	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78078631C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.246C>T	17.37:g.78078631C>T						GAA_ENST00000390015.3_Silent_p.C82C	p.C82C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		2	465	+	all_neural(118;0.117)		82			P-type.		Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.246C>T	CCDS32760.1																																																																																				0.677	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			6	9	0	0	0	1	0	6	9				
AP2A2	161	broad.mit.edu	37	11	1006602	1006602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1006602G>A	ENST00000448903.2	+	17	2422	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.D762N|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	761					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AATCTGTTCAGACGACCTTCA	0.423																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(2281-2283)Gac>Aac		adaptor-related protein complex 2, alpha 2 subunit							189.0	177.0	181.0					11																	1006602		1875	4102	5977	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:1006602G>A	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2281G>A	11.37:g.1006602G>A	ENSP00000413234:p.Asp761Asn					AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.D762N	p.D761N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	17	2422	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	761					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.2281G>A	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	G	9.082	0.999638	0.19121	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.17054	2.31;2.3	4.35	4.35	0.52113	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	2.998100	0.01172	N	0.006898	T	0.20780	0.0500	L	0.33189	0.99	0.80722	D	1	B;B	0.12013	0.004;0.005	B;B	0.17433	0.008;0.018	T	0.19031	-1.0318	10	0.20519	T	0.43	-19.7892	17.7671	0.88481	0.0:0.0:1.0:0.0	.	762;761	O94973-2;O94973	.;AP2A2_HUMAN	N	761;762;498;501	ENSP00000413234:D761N;ENSP00000327694:D762N	ENSP00000327694:D762N	D	+	1	0	AP2A2	996602	1.000000	0.71417	0.163000	0.22734	0.140000	0.21249	9.717000	0.98755	2.340000	0.79590	0.643000	0.83706	GAC		0.423	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		47	42	0	0	0	1	0	47	42				
PLK1	5347	broad.mit.edu	37	16	23702503	23702503	+	IGR	SNP	G	G	A	rs377714643		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702503G>A	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.R887W|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000457008.2_Missense_Mutation_p.R787W	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTATAGGACCGGAACTTTCTC	0.627																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2659-2661)Cgg>Tgg		endoplasmic reticulum to nucleus signaling 2		G	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	142.0	143.0	143.0		2659	5.3	1.0	16		143	0,8600		0,0,4300	no	missense	ERN2	NM_033266.3	101	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	887/975	23702503	1,12993	2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702503G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702503G>A						ERN2_ENST00000457008.2_Missense_Mutation_p.R787W	p.R887W	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	21	2827	-			839			KEN.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2659C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349552	0.82132	2.28E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.41758	0.99;0.99	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84812	0.0791	10	0.87932	D	0	.	16.8146	0.85730	0.0:0.0:1.0:0.0	.	787;839	E7ETG2;A5YM65	.;.	W	887;787	ENSP00000256797:R887W;ENSP00000413812:R787W	ENSP00000256797:R887W	R	-	1	2	ERN2	23610004	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.425000	0.52771	2.639000	0.89480	0.655000	0.94253	CGG		0.627	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		8	90	0	0	0	1	0	8	90				
FAN1	22909	broad.mit.edu	37	15	31217455	31217455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31217455C>A	ENST00000362065.4	+	9	2589	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	RP11-540B6.6_ENST00000602886.1_RNA|FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	766					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGCACCTCTTCCAGCAGCTCC	0.547								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(2296-2298)ttC>ttA	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							51.0	51.0	51.0					15																	31217455		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31217455C>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2298C>A	15.37:g.31217455C>A	ENSP00000354497:p.Phe766Leu					FAN1_ENST00000568145.1_3'UTR	p.F766L	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			9	2589	+			766					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.2298C>A	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.760866	0.00657	.	.	ENSG00000198690	ENST00000362065	D	0.81659	-1.52	5.72	-0.704	0.11256	.	0.554071	0.20131	N	0.098586	T	0.58395	0.2119	N	0.22421	0.69	0.53005	D	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48658	-0.9016	10	0.05525	T	0.97	-0.9599	7.0387	0.25008	0.0:0.3873:0.3363:0.2764	.	766;766	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	L	766	ENSP00000354497:F766L	ENSP00000354497:F766L	F	+	3	2	FAN1	29004747	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	-1.126000	0.03254	0.061000	0.16311	-0.819000	0.03115	TTC		0.547	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		18	20	1	0	1.96292e-10	1	2.41709e-10	18	20				
PIK3AP1	118788	broad.mit.edu	37	10	98386590	98386590	+	Missense_Mutation	SNP	G	G	A	rs544379655		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98386590G>A	ENST00000339364.5	-	10	1663	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T337M|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.T114M	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	515					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCATCCACCGTGTGATAAAC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		21908	0.001		0.0	False		,,,				2504	0.0					ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1543-1545)aCg>aTg		phosphoinositide-3-kinase adaptor protein 1							188.0	159.0	169.0					10																	98386590		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98386590G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1544C>T	10.37:g.98386590G>A	ENSP00000339826:p.Thr515Met					PIK3AP1_ENST00000371109.3_Missense_Mutation_p.T114M|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T337M	p.T515M	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	10	1663	-		Colorectal(252;0.0442)	515					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1544C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103367	0.06967	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.27720	2.69;2.02;1.65	5.77	-4.42	0.03579	.	0.682217	0.15246	N	0.272594	T	0.18882	0.0453	L	0.43152	1.355	0.09310	N	0.999999	B;P	0.38167	0.063;0.621	B;B	0.21360	0.014;0.034	T	0.00915	-1.1516	10	0.24483	T	0.36	1.0423	16.787	0.85576	0.0781:0.0813:0.8407:0.0	.	515;114	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	M	515;337;114	ENSP00000339826:T515M;ENSP00000360151:T337M;ENSP00000360150:T114M	ENSP00000339826:T515M	T	-	2	0	PIK3AP1	98376580	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.231000	0.17872	-1.763000	0.01307	-2.069000	0.00389	ACG		0.547	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		6	68	0	0	0	1	0	6	68				
KCNJ5	3762	broad.mit.edu	37	11	128781290	128781290	+	Missense_Mutation	SNP	G	G	A	rs139073333	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781290G>A	ENST00000338350.4	+	3	474	c.122G>A	c.(121-123)cGc>cAc	p.R41H	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R41H|KCNJ5_ENST00000529694.1_Missense_Mutation_p.R41H			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	41					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.R41H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GACCGTACGCGCCTGCTGGCC	0.597													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19335	0.0		0.0	False		,,,				2504	0.0				Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			1	Substitution - Missense(1)	p.R41H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(121-123)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)	G	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	84.0	78.0	80.0		122	5.8	1.0	11	dbSNP_134	80	0,8594		0,0,4297	yes	missense	KCNJ5	NM_000890.3	29	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	benign	41/420	128781290	2,12994	2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781290G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.122G>A	11.37:g.128781290G>A	ENSP00000339960:p.Arg41His					KCNJ5_ENST00000533599.1_Missense_Mutation_p.R41H|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R41H	p.R41H	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	498	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	41					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.122G>A	CCDS8479.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.58	2.875522	0.51695	4.54E-4	0.0	ENSG00000120457	ENST00000533356;ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.89270	-2.49;-2.49;-2.49	5.79	5.79	0.91817	.	1.137250	0.06446	N	0.726958	T	0.81197	0.4772	N	0.05510	-0.035	0.45464	D	0.998439	B	0.12013	0.005	B	0.04013	0.001	T	0.60510	-0.7249	10	0.39692	T	0.17	.	13.2623	0.60113	0.072:0.0:0.9279:0.0	.	41	P48544	IRK5_HUMAN	H	41	ENSP00000433295:R41H;ENSP00000339960:R41H;ENSP00000434266:R41H	ENSP00000339960:R41H	R	+	2	0	KCNJ5	128286500	1.000000	0.71417	0.965000	0.40720	0.939000	0.58152	6.270000	0.72563	2.731000	0.93534	0.650000	0.86243	CGC		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		28	48	0	0	0	1	0	28	48				
POM121	9883	broad.mit.edu	37	7	72416129	72416129	+	Silent	SNP	C	C	T	rs372694456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72416129C>T	ENST00000434423.2	+	12	3534	c.3534C>T	c.(3532-3534)acC>acT	p.T1178T	POM121_ENST00000446813.1_Silent_p.T913T|POM121_ENST00000358357.3_Silent_p.T913T|POM121_ENST00000257622.4_Silent_p.T913T|POM121_ENST00000395270.1_Silent_p.T913T|NSUN5P2_ENST00000388955.4_RNA			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1178	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCCAGGCACCGCCACCCCCA	0.652																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2737-2739)acC>acT		POM121 transmembrane nucleoporin		C		1,4405		0,1,2202	25.0	27.0	27.0		2739	0.3	0.9	7		27	2,8594	1.2+/-3.3	0,2,4296	no	coding-synonymous	POM121	NM_172020.2		0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231		913/985	72416129	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72416129C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3534C>T	7.37:g.72416129C>T						POM121_ENST00000446813.1_Silent_p.T913T|POM121_ENST00000434423.2_Silent_p.T1178T|POM121_ENST00000358357.3_Silent_p.T913T|POM121_ENST00000257622.4_Silent_p.T913T	p.T913T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			15	3780	+		Lung NSC(55;0.163)	1178			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.2739C>T																																																																																					0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			18	19	0	0	0	1	0	18	19				
ATAD3C	219293	broad.mit.edu	37	1	1387813	1387813	+	Splice_Site	SNP	C	C	T	rs377228484		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1387813C>T	ENST00000378785.2	+	3	1216	c.221C>T	c.(220-222)aCg>aTg	p.T74M		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	74							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGACAGCCACGGTAAACATA	0.602																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.e3+1		ATPase family, AAA domain containing 3C							144.0	122.0	129.0					1																	1387813		692	1591	2283	SO:0001630	splice_region_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1387813C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.222+1C>T	1.37:g.1387813C>T							p.T74_splice	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	1216	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	74					Q8N1Z5	Splice_Site	SNP	ENST00000378785.2	37	c.222_splice	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	4.614	0.114164	0.08831	.	.	ENSG00000215915	ENST00000378785	D	0.94576	-3.46	2.48	2.48	0.30137	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.83483	2.645	0.58432	D	0.999991	D	0.89917	1.0	D	0.70016	0.967	D	0.96634	0.9469	10	0.72032	D	0.01	.	11.9955	0.53201	0.0:1.0:0.0:0.0	.	74	Q5T2N8	ATD3C_HUMAN	M	74	ENSP00000368062:T74M	ENSP00000368062:T74M	T	+	2	0	ATAD3C	1377676	1.000000	0.71417	0.994000	0.49952	0.160000	0.22226	5.883000	0.69721	1.224000	0.43551	0.194000	0.17425	ACG		0.602	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211	Missense_Mutation	26	41	0	0	0	1	0	26	41				
TTI2	80185	broad.mit.edu	37	8	33361070	33361070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33361070C>T	ENST00000431156.2	-	6	1754	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.R379Q|TTI2_ENST00000520636.1_Missense_Mutation_p.R348Q	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	379																	CTTTAAGTGCCGGACAGTTAG	0.468																																						ENST00000431156.2																			0											c.(1135-1137)cGg>cAg		TELO2 interacting protein 2							150.0	157.0	154.0					8																	33361070		2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33361070C>T	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1136G>A	8.37:g.33361070C>T	ENSP00000411169:p.Arg379Gln					TTI2_ENST00000360742.5_Missense_Mutation_p.R379Q|TTI2_ENST00000520636.1_Missense_Mutation_p.R348Q|TTI2_ENST00000519356.1_5'UTR	p.R379Q	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			6	1754	-			379					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.1136G>A	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131135	0.77549	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000520636	T;T;T	0.77750	-0.11;-0.11;-1.12	6.03	5.16	0.70880	.	0.000000	0.64402	D	0.000001	D	0.86674	0.5989	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	D	0.87466	0.2411	10	0.59425	D	0.04	-26.2615	12.1035	0.53798	0.0:0.8609:0.0:0.1391	.	379;348	Q6NXR4;E5RIH5	TTI2_HUMAN;.	Q	379;379;348	ENSP00000353971:R379Q;ENSP00000411169:R379Q;ENSP00000428401:R348Q	ENSP00000353971:R379Q	R	-	2	0	C8orf41	33480612	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	3.813000	0.55636	1.555000	0.49500	0.655000	0.94253	CGG		0.468	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		34	71	0	0	0	1	0	34	71				
CELSR1	9620	broad.mit.edu	37	22	46931795	46931795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46931795G>A	ENST00000262738.3	-	1	1272	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L425F|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	425	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACCAGGAGCTGGTACTCG	0.682																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1273-1275)Ctc>Ttc		cadherin, EGF LAG seven-pass G-type receptor 1							31.0	22.0	25.0					22																	46931795		2202	4291	6493	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931795G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1273C>T	22.37:g.46931795G>A	ENSP00000262738:p.Leu425Phe					CELSR1_ENST00000395964.1_Missense_Mutation_p.L425F	p.L425F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1272	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	425			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1273C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077814	0.55753	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.36520	1.25;1.25	4.65	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	U	0.000059	T	0.51007	0.1649	M	0.64630	1.985	0.35153	D	0.769911	D	0.59767	0.986	D	0.66716	0.946	T	0.58929	-0.7549	10	0.38643	T	0.18	.	10.571	0.45200	0.1621:0.0:0.8379:0.0	.	425	Q9NYQ6	CELR1_HUMAN	F	425	ENSP00000262738:L425F;ENSP00000379293:L425F	ENSP00000262738:L425F	L	-	1	0	CELSR1	45310459	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.739000	0.47409	0.399000	0.25367	0.462000	0.41574	CTC		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	13	0	0	0	1	0	6	13				
WAC	51322	broad.mit.edu	37	10	28899640	28899640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28899640C>T	ENST00000354911.4	+	9	1339	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	WAC_ENST00000347934.4_Missense_Mutation_p.A290V|WAC_ENST00000375664.4_Missense_Mutation_p.A348V|WAC_ENST00000375646.1_Splice_Site_p.A241V|WAC_ENST00000428935.1_Missense_Mutation_p.A348V	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	393					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTTACAGCAGCTGTGACACAA	0.383																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1042-1044)gCt>gTt		WW domain containing adaptor with coiled-coil							145.0	140.0	141.0					10																	28899640		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28899640C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1178C>T	10.37:g.28899640C>T	ENSP00000346986:p.Ala393Val					WAC_ENST00000347934.4_Missense_Mutation_p.A290V|WAC_ENST00000375646.1_Splice_Site_p.A241_splice|WAC_ENST00000354911.4_Missense_Mutation_p.A393V|WAC_ENST00000428935.1_Missense_Mutation_p.A348V	p.A348V			Q9BTA9	WAC_HUMAN			9	1652	+			393					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1043C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335436	0.95758	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935	T;T;T;T;T	0.52057	1.32;1.67;1.45;1.31;0.68	5.58	5.58	0.84498	.	0.048045	0.85682	D	0.000000	T	0.60327	0.2260	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.993;0.998	D;D;D;D	0.80764	0.99;0.994;0.978;0.987	T	0.61969	-0.6953	10	0.66056	D	0.02	-18.4032	19.9414	0.97163	0.0:1.0:0.0:0.0	.	348;290;393;348	Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.;.;WAC_HUMAN;.	V	348;241;290;393;348	ENSP00000364816:A348V;ENSP00000364797:A241V;ENSP00000311106:A290V;ENSP00000346986:A393V;ENSP00000399706:A348V	ENSP00000311106:A290V	A	+	2	0	WAC	28939646	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.779000	0.95612	0.650000	0.86243	GCT		0.383	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		46	84	0	0	0	1	0	46	84				
MST1L	11223	broad.mit.edu	37	1	17084512	17084512	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17084512C>T	ENST00000455405.2	-	0	377							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CCGCTGTAGGCCTGGCTCTCC	0.577																																						ENST00000455405.2																			0																																																			0							g.chr1:17084512C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084512C>T														0	377	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	0.004	-2.288267	0.00248	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.919981	0.09010	N	0.861700	T	0.12008	0.0292	.	.	.	.	.	.	B;B	0.09022	0.002;0.001	B;B	0.14023	0.006;0.01	T	0.36359	-0.9751	6	0.02654	T	1	.	2.6652	0.05046	0.0:0.5:0.0:0.5	.	529;555	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	D	524;529;555	.	ENSP00000439273:G529D	G	-	2	0	MST1P9	16957099	0.494000	0.26043	0.000000	0.03702	0.000000	0.00434	0.811000	0.27198	-0.000000	0.14550	0.000000	0.15137	GGC		0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	67	0	0	0	1	0	5	67				
ATP10D	57205	broad.mit.edu	37	4	47548743	47548743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548743G>A	ENST00000273859.3	+	10	1768	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N	ATP10D_ENST00000504445.1_Missense_Mutation_p.S485N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	500					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAGCCCCCAGCTGCAGGACA	0.483																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1498-1500)aGc>aAc		ATPase, class V, type 10D							110.0	115.0	113.0					4																	47548743		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47548743G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1499G>A	4.37:g.47548743G>A	ENSP00000273859:p.Ser500Asn					ATP10D_ENST00000504445.1_Missense_Mutation_p.S485N	p.S500N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			10	1768	+			500					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1499G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900545	0.33535	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.39406	1.08;4.01	4.78	3.94	0.45596	HAD-like domain (1);	0.709313	0.14220	N	0.333483	T	0.30696	0.0773	L	0.34521	1.04	0.27637	N	0.947844	B;B	0.15719	0.014;0.0	B;B	0.18263	0.021;0.003	T	0.16928	-1.0386	10	0.28530	T	0.3	0.0545	8.6525	0.34044	0.1927:0.0:0.8073:0.0	.	500;485	Q9P241;Q6PEW3	AT10D_HUMAN;.	N	500;485	ENSP00000273859:S500N;ENSP00000420909:S485N	ENSP00000273859:S500N	S	+	2	0	ATP10D	47243500	0.966000	0.33281	0.861000	0.33841	0.589000	0.36550	1.642000	0.37207	1.251000	0.43983	0.491000	0.48974	AGC		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		39	53	0	0	0	1	0	39	53				
OR52B2	255725	broad.mit.edu	37	11	6190901	6190901	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190901G>T	ENST00000530810.1	-	1	737	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGTAAGACACAGCGAT	0.517																																					NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(655-657)tCt>tAt		olfactory receptor, family 52, subfamily B, member 2							63.0	63.0	63.0					11																	6190901		2093	4222	6315	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190901G>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.656C>A	11.37:g.6190901G>T	ENSP00000432011:p.Ser219Tyr					RP11-290F24.3_ENST00000529961.1_RNA	p.S219Y	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	737	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	219					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.656C>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921285	0.73213	.	.	ENSG00000255307	ENST00000530810	T	0.46063	0.88	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.77974	0.4211	H	0.97516	4.02	0.39058	D	0.96046	D	0.89917	1.0	D	0.91635	0.999	D	0.86558	0.1839	9	0.87932	D	0	.	18.162	0.89710	0.0:0.0:1.0:0.0	.	219	Q96RD2	O52B2_HUMAN	Y	219	ENSP00000432011:S219Y	ENSP00000432011:S219Y	S	-	2	0	OR52B2	6147477	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.289000	0.72696	2.770000	0.95276	0.551000	0.68910	TCT		0.517	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		18	21	1	0	6.94344e-10	1	8.49476e-10	18	21				
ARID4A	5926	broad.mit.edu	37	14	58831083	58831083	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831083A>G	ENST00000355431.3	+	20	2649	c.2276A>G	c.(2275-2277)aAg>aGg	p.K759R	ARID4A_ENST00000348476.3_Missense_Mutation_p.K759R|ARID4A_ENST00000431317.2_Missense_Mutation_p.K759R|ARID4A_ENST00000395168.3_Missense_Mutation_p.K759R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	759					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAACCCTGAAGTTAGAAGTT	0.318																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2275-2277)aAg>aGg		AT rich interactive domain 4A (RBP1-like)							51.0	60.0	57.0					14																	58831083		2195	4297	6492	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831083A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2276A>G	14.37:g.58831083A>G	ENSP00000347602:p.Lys759Arg					ARID4A_ENST00000431317.2_Missense_Mutation_p.K759R|ARID4A_ENST00000348476.3_Missense_Mutation_p.K759R|ARID4A_ENST00000395168.3_Missense_Mutation_p.K759R	p.K759R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	2649	+			759					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2276A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777664	0.31502	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.19669	2.34;2.32;2.3;2.32;2.13	5.8	4.64	0.57946	.	0.400306	0.30630	N	0.009220	T	0.14184	0.0343	L	0.27053	0.805	0.21861	N	0.9995	B;B;B	0.31548	0.328;0.038;0.328	B;B;B	0.24394	0.053;0.01;0.053	T	0.11641	-1.0579	10	0.33141	T	0.24	-4.4545	12.8499	0.57852	0.859:0.141:0.0:0.0	.	759;759;759	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	R	759;759;759;759;437	ENSP00000347602:K759R;ENSP00000344556:K759R;ENSP00000378597:K759R;ENSP00000397368:K759R;ENSP00000416053:K437R	ENSP00000344556:K759R	K	+	2	0	ARID4A	57900836	1.000000	0.71417	0.012000	0.15200	0.919000	0.55068	4.704000	0.61831	1.002000	0.39104	0.528000	0.53228	AAG		0.318	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		6	65	0	0	0	1	0	6	65				
WDR78	79819	broad.mit.edu	37	1	67299299	67299299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67299299G>T	ENST00000371026.3	-	13	2037	c.1982C>A	c.(1981-1983)gCt>gAt	p.A661D	WDR78_ENST00000431318.1_Missense_Mutation_p.A407D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	661					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCCAGGAGCCTGTCGAGA	0.343																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1981-1983)gCt>gAt		WD repeat domain 78							153.0	157.0	156.0					1																	67299299		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67299299G>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1982C>A	1.37:g.67299299G>T	ENSP00000360065:p.Ala661Asp					WDR78_ENST00000431318.1_Missense_Mutation_p.A407D	p.A661D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			13	2037	-			661					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1982C>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559108	0.65538	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.64618	1.68;-0.11;-0.11	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.102387	0.64402	D	0.000003	T	0.77075	0.4077	M	0.85462	2.755	0.39404	D	0.966638	D;D	0.76494	0.997;0.999	D;D	0.72982	0.975;0.979	T	0.80476	-0.1366	10	0.72032	D	0.01	-28.3463	14.306	0.66384	0.0706:0.0:0.9294:0.0	.	407;661	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	D	661;407;427	ENSP00000360065:A661D;ENSP00000393182:A407D;ENSP00000433682:A427D	ENSP00000360065:A661D	A	-	2	0	WDR78	67071887	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	5.075000	0.64407	2.765000	0.95021	0.655000	0.94253	GCT		0.343	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		14	30	1	0	1.49906e-05	1	1.69169e-05	14	30				
ZNF334	55713	broad.mit.edu	37	20	45131588	45131588	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45131588T>G	ENST00000347606.4	-	5	572	c.390A>C	c.(388-390)agA>agC	p.R130S	ZNF334_ENST00000593880.1_Missense_Mutation_p.R153S|ZNF334_ENST00000457685.2_Missense_Mutation_p.R92S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGGCATTTTTCTTGAGGGAA	0.343																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(274-276)agA>agC		zinc finger protein 334							97.0	87.0	91.0					20																	45131588		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131588T>G	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.390A>C	20.37:g.45131588T>G	ENSP00000255129:p.Arg130Ser					ZNF334_ENST00000593880.1_Missense_Mutation_p.R153S|ZNF334_ENST00000347606.4_Missense_Mutation_p.R130S	p.R92S			Q9HCZ1	ZN334_HUMAN			6	1599	-		Myeloproliferative disorder(115;0.0122)	130					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.276A>C	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	8.672	0.903073	0.17760	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08370	3.34;3.1	3.26	2.09	0.27110	.	.	.	.	.	T	0.04998	0.0134	L	0.28504	0.86	0.09310	N	1	B;B;B	0.25105	0.118;0.118;0.118	B;B;B	0.19666	0.026;0.018;0.026	T	0.45145	-0.9281	9	0.08179	T	0.78	.	5.4966	0.16805	0.0:0.1364:0.0:0.8636	.	92;130;153	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	S	92;130	ENSP00000402582:R92S;ENSP00000255129:R130S	ENSP00000255129:R130S	R	-	3	2	ZNF334	44564995	0.000000	0.05858	0.011000	0.14972	0.059000	0.15707	-0.248000	0.08854	0.412000	0.25729	0.482000	0.46254	AGA		0.343	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			24	45	0	0	0	1	0	24	45				
BIRC7	79444	broad.mit.edu	37	20	61870847	61870847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61870847G>A	ENST00000217169.3	+	6	1001	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000342412.6_Missense_Mutation_p.V245I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V158I|MIR3196_ENST00000579556.1_RNA	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	263					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CGTGTCCATCGTCTTTGTGCC	0.697																																						ENST00000217169.3																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)	12						c.(787-789)Gtc>Atc		baculoviral IAP repeat containing 7							91.0	77.0	82.0					20																	61870847		2203	4299	6502	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61870847G>A	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.787G>A	20.37:g.61870847G>A	ENSP00000217169:p.Val263Ile					BIRC7_ENST00000342412.6_Missense_Mutation_p.V245I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V158I	p.V263I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN			6	1001	+	all_cancers(38;2.72e-09)		263					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.787G>A	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301527	0.60195	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.78816	-1.21;-1.21;-1.21	5.06	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.39834	N	0.001248	D	0.84079	0.5393	L	0.43701	1.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.977	D	0.84182	0.0440	10	0.45353	T	0.12	.	18.0276	0.89273	0.0:0.0:1.0:0.0	.	263;245	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	I	245;263;158	ENSP00000345213:V245I;ENSP00000217169:V263I;ENSP00000378717:V158I	ENSP00000217169:V263I	V	+	1	0	BIRC7	61341292	1.000000	0.71417	0.898000	0.35279	0.005000	0.04900	5.990000	0.70595	2.333000	0.79357	0.591000	0.81541	GTC		0.697	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		15	32	0	0	0	1	0	15	32				
GPRASP1	9737	broad.mit.edu	37	X	101912597	101912597	+	Silent	SNP	G	G	A	rs142372042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912597G>A	ENST00000361600.5	+	5	4557	c.3756G>A	c.(3754-3756)ccG>ccA	p.P1252P	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.P1252P|GPRASP1_ENST00000444152.1_Silent_p.P1252P|GPRASP1_ENST00000537097.1_Silent_p.P1252P	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1252	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGATTCCCCGGAACAGCTGT	0.413													G|||	3	0.000794702	0.0	0.0	3775	,	,		13706	0.0		0.0	False		,,,				2504	0.0031					ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3754-3756)ccG>ccA		G protein-coupled receptor associated sorting protein 1		G	,,,,	2,3833		0,2,1630,571	102.0	87.0	92.0		3756,3756,3756,,3756	-0.1	0.8	X	dbSNP_134	92	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GPRASP1,ARMCX5-GPRASP2	NM_001099410.1,NM_001099411.1,NM_001184727.1,NM_001199818.1,NM_014710.4	,,,,	0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189	,,,,	1252/1396,1252/1396,1252/1396,,1252/1396	101912597	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101912597G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3756G>A	X.37:g.101912597G>A						GPRASP1_ENST00000415986.1_Silent_p.P1252P|GPRASP1_ENST00000361600.5_Silent_p.P1252P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.P1252P	p.P1252P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4569	+			1252			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3756G>A	CCDS35352.1																																																																																				0.413	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		15	138	0	0	0	1	0	15	138				
DSC3	1825	broad.mit.edu	37	18	28584320	28584320	+	Missense_Mutation	SNP	C	C	T	rs367811987		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28584320C>T	ENST00000360428.4	-	13	1981	c.1901G>A	c.(1900-1902)cGt>cAt	p.R634H	DSC3_ENST00000434452.1_Missense_Mutation_p.R634H	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	634	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATATGAAAGACGGGCAGCTGT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		16858	0.0		0.0	False		,,,				2504	0.001					ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1900-1902)cGt>cAt		desmocollin 3		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	66.0	68.0	67.0		1901,1901	3.9	1.0	18		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSC3	NM_024423.2,NM_001941.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	634/840,634/897	28584320	1,13005	2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28584320C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1901G>A	18.37:g.28584320C>T	ENSP00000353608:p.Arg634His					DSC3_ENST00000360428.4_Missense_Mutation_p.R634H	p.R634H	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		13	2055	-			634			Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1901G>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915427	0.33815	0.0	1.16E-4	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.60920	0.15;0.15	4.75	3.87	0.44632	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.47002	0.1422	L	0.56396	1.775	0.31079	N	0.712085	B;B	0.32693	0.145;0.38	B;B	0.27715	0.023;0.082	T	0.52155	-0.8613	9	0.39692	T	0.17	.	5.2406	0.15469	0.0:0.7954:0.0:0.2046	.	634;634	Q14574;Q14574-2	DSC3_HUMAN;.	H	634	ENSP00000353608:R634H;ENSP00000392068:R634H	ENSP00000353608:R634H	R	-	2	0	DSC3	26838318	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.174000	0.31932	2.611000	0.88343	0.650000	0.86243	CGT		0.343	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		27	35	0	0	0	1	0	27	35				
MICAL3	57553	broad.mit.edu	37	22	18347660	18347660	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18347660G>A	ENST00000441493.2	-	19	2958				MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000429452.1_Silent_p.S994S|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000585038.1_Silent_p.S994S|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000444520.1_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGAAGTGAGGCTACCTGGGG	0.602																																						ENST00000429452.1																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2980-2982)agC>agT		microtubule associated monooxygenase, calponin and LIM domain containing 3							89.0	87.0	88.0					22																	18347660		1568	3582	5150	SO:0001627	intron_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18347660G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2605+4C>T	22.37:g.18347660G>A						MICAL3_ENST00000585038.1_Silent_p.S994S|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000444520.1_Intron	p.S994S	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	23	3334	-		all_epithelial(15;0.198)	870			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.2982C>T	CCDS46659.1																																																																																				0.602	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			23	55	0	0	0	1	0	23	55				
C5	727	broad.mit.edu	37	9	123744139	123744139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123744139C>T	ENST00000223642.1	-	27	3498	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1157					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GGGCATATATCGAAAGCCTTT	0.408																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3469-3471)Gat>Aat		complement component 5	Eculizumab(DB01257)						80.0	76.0	78.0					9																	123744139		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123744139C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3469G>A	9.37:g.123744139C>T	ENSP00000223642:p.Asp1157Asn						p.D1157N	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	27	3498	-			1157					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3469G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	1.640	-0.516679	0.04200	.	.	ENSG00000106804	ENST00000223642	T	0.33216	1.42	4.85	2.83	0.33086	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.254138	0.20647	N	0.088286	T	0.18425	0.0442	L	0.43152	1.355	0.09310	N	1	P	0.44816	0.844	B	0.34346	0.18	T	0.11179	-1.0598	10	0.18710	T	0.47	.	7.7292	0.28777	0.0:0.4217:0.4833:0.0949	.	1157	P01031	CO5_HUMAN	N	1157	ENSP00000223642:D1157N	ENSP00000223642:D1157N	D	-	1	0	C5	122783960	0.405000	0.25336	0.161000	0.22692	0.309000	0.27889	1.277000	0.33167	1.161000	0.42604	-0.188000	0.12872	GAT		0.408	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		14	20	0	0	0	1	0	14	20				
SYT6	148281	broad.mit.edu	37	1	114680430	114680430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680430G>A	ENST00000610222.1	-	3	904	c.758C>T	c.(757-759)gCt>gTt	p.A253V	SYT6_ENST00000393296.1_Missense_Mutation_p.A253V|SYT6_ENST00000609117.1_Missense_Mutation_p.A168V|SYT6_ENST00000607941.1_Missense_Mutation_p.A168V|SYT6_ENST00000369547.1_Missense_Mutation_p.A168V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	253	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTCAAAAGCCTTCAGGAT	0.547																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(757-759)gCt>gTt		synaptotagmin VI							158.0	139.0	146.0					1																	114680430		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680430G>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.758C>T	1.37:g.114680430G>A	ENSP00000476396:p.Ala253Val					SYT6_ENST00000369547.1_Missense_Mutation_p.A168V	p.A253V			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	835	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	253			C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.758C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.331204	0.95733	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.61	5.61	0.85477	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	M	0.90483	3.12	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.60591	-0.7233	10	0.87932	D	0	.	19.6322	0.95713	0.0:0.0:1.0:0.0	.	253	Q5T7P8	SYT6_HUMAN	V	168;253;168;253	ENSP00000358560:A168V;ENSP00000376974:A253V;ENSP00000358559:A168V;ENSP00000358558:A253V	ENSP00000358558:A253V	A	-	2	0	SYT6	114481953	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.865000	0.99609	2.652000	0.90054	0.655000	0.94253	GCT		0.547	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		31	64	0	0	0	1	0	31	64				
FAM117B	150864	broad.mit.edu	37	2	203630268	203630268	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203630268C>A	ENST00000392238.2	+	8	1551	c.1551C>A	c.(1549-1551)atC>atA	p.I517I	FAM117B_ENST00000303116.6_Silent_p.I273I			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	517										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGTCAGCATCCTCAAGCCAC	0.498																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(817-819)atC>atA		family with sequence similarity 117, member B							128.0	121.0	123.0					2																	203630268		2203	4300	6503	SO:0001819	synonymous_variant	150864							g.chr2:203630268C>A	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1551C>A	2.37:g.203630268C>A						FAM117B_ENST00000392238.2_Silent_p.I517I	p.I273I	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			8	1561	+			517					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	ENST00000392238.2	37	c.819C>A	CCDS33362.2																																																																																				0.498	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		8	91	1	0	0.000274275	1	0.000298791	8	91				
ZAN	7455	broad.mit.edu	37	7	100344289	100344289	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100344289C>T	ENST00000348028.3	+	0	1060				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGCCAGTCTCCTGGTGCAGC	0.552																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							126.0	130.0	129.0					7																	100344289		1943	4150	6093			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100344289C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100344289C>T						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1043	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	22.5	4.304633	0.81136	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.01963	4.53;4.53;4.53	4.88	4.0	0.46444	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.183438	0.26944	N	0.021713	T	0.04407	0.0121	L	0.41573	1.285	0.28244	N	0.925566	P;P	0.44139	0.793;0.827	P;P	0.49502	0.478;0.613	T	0.12837	-1.0532	10	0.54805	T	0.06	.	11.4029	0.49880	0.0:0.7886:0.2114:0.0	.	299;299	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	299	ENSP00000445943:P299S;ENSP00000445091:P299S;ENSP00000444427:P299S	ENSP00000423579:P299S	P	+	1	0	ZAN	100182225	0.000000	0.05858	0.010000	0.14722	0.982000	0.71751	0.118000	0.15605	1.351000	0.45789	0.650000	0.86243	CCT		0.552	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	171	0	0	0	1	0	7	171				
FBXO46	23403	broad.mit.edu	37	19	46215271	46215271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215271C>T	ENST00000317683.3	-	2	1616	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	495	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CACTTGAGGGCGGCCAGCGCG	0.652																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(1483-1485)Gcc>Acc		F-box protein 46							19.0	21.0	21.0					19																	46215271		2140	4242	6382	SO:0001583	missense	23403						protein binding	g.chr19:46215271C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1483G>A	19.37:g.46215271C>T	ENSP00000410007:p.Ala495Thr						p.A495T	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1616	-		Ovarian(192;0.179)|all_neural(266;0.224)	495			F-box.			Missense_Mutation	SNP	ENST00000317683.3	37	c.1483G>A	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607890	0.87258	.	.	ENSG00000177051	ENST00000317683	T	0.24151	1.87	5.04	5.04	0.67666	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	.	.	.	.	T	0.35393	0.0930	L	0.45137	1.4	0.80722	D	1	D	0.58268	0.982	P	0.52881	0.712	T	0.10870	-1.0611	9	0.72032	D	0.01	-15.9521	15.8819	0.79211	0.0:1.0:0.0:0.0	.	495	Q6PJ61	FBX46_HUMAN	T	495	ENSP00000410007:A495T	ENSP00000410007:A495T	A	-	1	0	FBXO46	50907111	1.000000	0.71417	0.836000	0.33094	0.958000	0.62258	7.770000	0.85390	2.351000	0.79841	0.460000	0.39030	GCC		0.652	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		3	9	0	0	0	1	0	3	9				
DNAJB7	150353	broad.mit.edu	37	22	41257829	41257829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41257829G>T	ENST00000307221.4	-	1	301	c.170C>A	c.(169-171)tCa>tAa	p.S57*	XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	57	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCATCATTTGATAATACCTC	0.373																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(169-171)tCa>tAa		DnaJ (Hsp40) homolog, subfamily B, member 7							223.0	214.0	217.0					22																	41257829		2203	4300	6503	SO:0001587	stop_gained	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257829G>T	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.170C>A	22.37:g.41257829G>T	ENSP00000307197:p.Ser57*					XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron	p.S57*	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	301	-			57			J.		Q2M220|Q5H904|Q8WYJ7	Nonsense_Mutation	SNP	ENST00000307221.4	37	c.170C>A	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764015	0.89932	.	.	ENSG00000172404	ENST00000307221	.	.	.	4.7	3.66	0.41972	.	0.000000	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0844	0.59132	0.0:0.1629:0.8371:0.0	.	.	.	.	X	57	.	ENSP00000307197:S57X	S	-	2	0	DNAJB7	39587775	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.993000	0.63895	1.546000	0.49388	0.591000	0.81541	TCA		0.373	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		83	135	1	0	3.2527e-25	1	4.3222e-25	83	135				
ZBTB41	360023	broad.mit.edu	37	1	197157461	197157461	+	Missense_Mutation	SNP	G	G	A	rs146939360		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197157461G>A	ENST00000367405.4	-	4	1575	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGAGCAAACCGTGATTTAAAA	0.348																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1507-1509)Cgg>Tgg		zinc finger and BTB domain containing 41							85.0	86.0	86.0					1																	197157461		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197157461G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1507C>T	1.37:g.197157461G>A	ENSP00000356375:p.Arg503Trp					ZBTB41_ENST00000467322.1_5'UTR	p.R503W	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			4	1575	-			503					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1507C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179290	0.78564	.	.	ENSG00000177888	ENST00000367405	T	0.30182	1.54	5.48	4.56	0.56223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35970	U	0.002865	T	0.57755	0.2075	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65067	-0.6258	10	0.87932	D	0	.	16.1565	0.81673	0.0:0.0:0.8658:0.1342	.	503	Q5SVQ8	ZBT41_HUMAN	W	503	ENSP00000356375:R503W	ENSP00000356375:R503W	R	-	1	2	ZBTB41	195424084	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	3.236000	0.51336	1.423000	0.47198	0.563000	0.77884	CGG		0.348	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		32	63	0	0	0	1	0	32	63				
ABCF1	23	broad.mit.edu	37	6	30553102	30553102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30553102C>A	ENST00000326195.8	+	15	1569	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	ABCF1_ENST00000376545.3_Missense_Mutation_p.A448D|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	486	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GACCTCAACGCTGTCATCTGG	0.557																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1456-1458)gCt>gAt		ATP-binding cassette, sub-family F (GCN20), member 1							214.0	157.0	177.0					6																	30553102		1511	2709	4220	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553102C>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1457C>A	6.37:g.30553102C>A	ENSP00000313603:p.Ala486Asp					ABCF1_ENST00000376545.3_Missense_Mutation_p.A448D|ABCF1_ENST00000396515.4_Intron	p.A486D	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			15	1569	+			486			ABC transporter 1.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1457C>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754549	0.89843	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.92048	-2.78;-2.96	5.16	5.16	0.70880	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96623	0.8898	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97045	0.9760	10	0.87932	D	0	-12.0242	17.5757	0.87947	0.0:1.0:0.0:0.0	.	448;486;486	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	D	486;448	ENSP00000313603:A486D;ENSP00000365728:A448D	ENSP00000313603:A486D	A	+	2	0	ABCF1	30661081	1.000000	0.71417	0.932000	0.37286	0.872000	0.50106	7.164000	0.77533	2.687000	0.91594	0.462000	0.41574	GCT		0.557	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			7	40	1	0	0.0293803	1	0.0301098	7	40				
PCYT1B	9468	broad.mit.edu	37	X	24690692	24690692	+	Missense_Mutation	SNP	G	G	A	rs191876455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24690692G>A	ENST00000379145.1	-	1	102	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	38					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTACCTTGCGCCACAATTGG	0.413													G|||	2	0.000529801	0.0008	0.0	3775	,	,		849	0.0		0.0	False		,,,				2504	0.001					ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(58-60)Cgc>Tgc		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						166.0	129.0	140.0					X																	24690692		1568	3582	5150	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24690692G>A	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379145.1:c.58C>T	X.37:g.24690692G>A	ENSP00000368440:p.Arg20Cys						p.R20C	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			1	102	-			38					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379145.1	37	c.58C>T	CCDS55392.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.21	2.167688	0.38315	.	.	ENSG00000102230	ENST00000379145	.	.	.	5.15	3.38	0.38709	.	.	.	.	.	T	0.29783	0.0744	N	0.14661	0.345	0.20403	N	0.999905	D	0.67145	0.996	P	0.51550	0.673	T	0.07849	-1.0751	8	0.59425	D	0.04	.	8.2061	0.31456	0.1863:0.0:0.8137:0.0	.	20	E9PD84	.	C	20	.	ENSP00000368440:R20C	R	-	1	0	PCYT1B	24600613	0.489000	0.26004	0.190000	0.23270	0.329000	0.28539	3.738000	0.55067	0.565000	0.29255	0.590000	0.80494	CGC		0.413	PCYT1B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056102.2	NM_004845		34	63	0	0	0	1	0	34	63				
HSPA14	51182	broad.mit.edu	37	10	14909123	14909123	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14909123G>T	ENST00000378372.3	+	11	1274	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	345					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CAAAGCTACAGCAACTGATTA	0.383																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(1033-1035)caG>caT		heat shock 70kDa protein 14							116.0	121.0	119.0					10																	14909123		2203	4300	6503	SO:0001583	missense	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909123G>T	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1035G>T	10.37:g.14909123G>T	ENSP00000367623:p.Gln345His						p.Q345H	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			11	1274	+			345					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.1035G>T	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735409	0.69189	.	.	ENSG00000187522	ENST00000378372	T	0.01145	5.27	5.68	4.77	0.60923	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.07638	0.0192	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00026	-1.2313	10	0.87932	D	0	-8.4657	10.2977	0.43633	0.1463:0.0:0.8537:0.0	.	345	Q0VDF9	HSP7E_HUMAN	H	345	ENSP00000367623:Q345H	ENSP00000367623:Q345H	Q	+	3	2	HSPA14	14949129	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.356000	0.34079	2.676000	0.91093	0.563000	0.77884	CAG		0.383	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		11	120	1	0	0.00829132	1	0.00869385	11	120				
PTGIS	5740	broad.mit.edu	37	20	48140673	48140673	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48140673G>A	ENST00000244043.4	-	6	806	c.777C>T	c.(775-777)taC>taT	p.Y259Y	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	259					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GGTGCAGCAGGTAACTCTCCA	0.617																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(775-777)taC>taT		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						144.0	115.0	124.0					20																	48140673		2203	4300	6503	SO:0001819	synonymous_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48140673G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.777C>T	20.37:g.48140673G>A						PTGIS_ENST00000478971.1_5'UTR	p.Y259Y	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	806	-			259					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	c.777C>T	CCDS13419.1																																																																																				0.617	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			22	45	0	0	0	1	0	22	45				
CDH2	1000	broad.mit.edu	37	18	25583001	25583001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25583001G>A	ENST00000269141.3	-	7	1403	c.980C>T	c.(979-981)aCt>aTt	p.T327I	CDH2_ENST00000399380.3_Missense_Mutation_p.T296I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	327	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGTCACCAGTCTCATTGTT	0.438																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(979-981)aCt>aTt		cadherin 2, type 1, N-cadherin (neuronal)							247.0	205.0	219.0					18																	25583001		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25583001G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.980C>T	18.37:g.25583001G>A	ENSP00000269141:p.Thr327Ile					CDH2_ENST00000399380.3_Missense_Mutation_p.T296I	p.T327I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			7	1403	-			327			Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.980C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132184	0.94473	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.58060	0.36;0.36	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.73380	0.98;0.974	D	0.84430	0.0576	10	0.87932	D	0	.	19.9902	0.97362	0.0:0.0:1.0:0.0	.	296;327	A8MWK3;P19022	.;CADH2_HUMAN	I	327;296	ENSP00000269141:T327I;ENSP00000382312:T296I	ENSP00000269141:T327I	T	-	2	0	CDH2	23836999	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.866000	0.99616	2.724000	0.93272	0.563000	0.77884	ACT		0.438	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		47	71	0	0	0	1	0	47	71				
C4B	721	broad.mit.edu	37	6	31997102	31997102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31997102C>T	ENST00000435363.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4B_ENST00000425700.2_Silent_p.A1221A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1221					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TGGCAATGGCCCAGGAGACTG	0.647																																						ENST00000435363.2																			0											c.(3661-3663)gcC>gcT		complement component 4B (Chido blood group)							49.0	39.0	42.0					6																	31997102		1544	3511	5055	SO:0001819	synonymous_variant	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31997102C>T	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3663C>T	6.37:g.31997102C>T						C4B_ENST00000425700.2_Silent_p.A1221A	p.A1221A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN			28	3747	+			1221					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000435363.2	37	c.3663C>T	CCDS47405.1																																																																																				0.647	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		12	17	0	0	0	1	0	12	17				
MYO10	4651	broad.mit.edu	37	5	16763613	16763613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16763613C>A	ENST00000513610.1	-	14	1925	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	491	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGGCATTCTCCATTGTCT	0.373																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(1471-1473)Gaa>Taa		myosin X							170.0	150.0	156.0					5																	16763613		1864	4103	5967	SO:0001587	stop_gained	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16763613C>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1471G>T	5.37:g.16763613C>A	ENSP00000421280:p.Glu491*						p.E491*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			14	1925	-			491			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	c.1471G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	43	10.236361	0.99366	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.111	0.97911	0.0:1.0:0.0:0.0	.	.	.	.	X	491;502	.	ENSP00000421280:E491X	E	-	1	0	MYO10	16816613	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	6.072000	0.71238	2.762000	0.94881	0.563000	0.77884	GAA		0.373	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		6	65	1	0	0.27861	1	0.279982	6	65				
LINC00518	221718	broad.mit.edu	37	6	10430257	10430257	+	lincRNA	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10430257T>A	ENST00000496285.1	-	0	778					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518																		TTACATAAGGTCCATGTGTCT	0.488											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000496285.1																			0																				126.0	132.0	130.0					6																	10430257		2203	4300	6503			0							g.chr6:10430257T>A	BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430257T>A			OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	664			NR_027793.1						0	778	-									RNA	SNP	ENST00000496285.1	37																																																																																						0.488	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1	NR_027793		10	112	0	0	0	1	0	10	112				
APBB1	322	broad.mit.edu	37	11	6423400	6423400	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6423400T>C	ENST00000609360.1	-	8	1393	c.1294A>G	c.(1294-1296)Aag>Gag	p.K432E	APBB1_ENST00000530885.1_Missense_Mutation_p.K212E|APBB1_ENST00000608655.1_Missense_Mutation_p.K212E|APBB1_ENST00000608704.1_Missense_Mutation_p.K173E|APBB1_ENST00000389906.2_Missense_Mutation_p.K432E|APBB1_ENST00000609331.1_Missense_Mutation_p.K197E|APBB1_ENST00000299402.6_Missense_Mutation_p.K432E|APBB1_ENST00000608645.1_Missense_Mutation_p.K173E|APBB1_ENST00000608394.1_Missense_Mutation_p.K173E|APBB1_ENST00000311051.3_Missense_Mutation_p.K432E|APBB1_ENST00000529519.1_5'UTR	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	432	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCACTAGCTTTAGTGTCTCA	0.607																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1294-1296)Aag>Gag		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							134.0	103.0	114.0					11																	6423400		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423400T>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1294A>G	11.37:g.6423400T>C	ENSP00000477213:p.Lys432Glu					APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000533407.1_Missense_Mutation_p.K173E|APBB1_ENST00000530885.1_Missense_Mutation_p.K212E|APBB1_ENST00000299402.6_Missense_Mutation_p.K432E|APBB1_ENST00000311051.3_Missense_Mutation_p.K432E	p.K432E	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	8	1393	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	432			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1294A>G		.	.	.	.	.	.	.	.	.	.	T	21.9	4.211360	0.79240	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.31	4.31	0.51392	.	0.144547	0.44902	D	0.000417	T	0.22205	0.0535	L	0.52573	1.65	0.45272	D	0.998273	B;P;P	0.37207	0.437;0.493;0.587	B;B;B	0.39805	0.148;0.298;0.31	T	0.02654	-1.1128	10	0.40728	T	0.16	-27.0288	11.4666	0.50243	0.0:0.0:0.0:1.0	.	197;212;432	F5H1C5;B7Z2Y0;O00213-2	.;.;.	E	432;432;432;281;173;197;212;173	ENSP00000299402:K432E;ENSP00000311912:K432E;ENSP00000374556:K432E;ENSP00000433338:K212E;ENSP00000437114:K173E	ENSP00000299402:K432E	K	-	1	0	APBB1	6379976	0.908000	0.30866	0.946000	0.38457	0.928000	0.56348	1.724000	0.38064	1.795000	0.52594	0.383000	0.25322	AAG		0.607	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		12	16	0	0	0	1	0	12	16				
KRT19P2	160313	broad.mit.edu	37	12	95228373	95228373	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95228373G>T	ENST00000405395.2	+	0	144				MIR492_ENST00000385303.1_RNA	NR_036685.1				keratin 19 pseudogene 2																		ACAGATCAAAGGCCTGAAGGA	0.537																																						ENST00000405395.2																			0																																																			0							g.chr12:95228373G>T			12q22	2013-06-25			ENSG00000216306	ENSG00000216306			33423	pseudogene	pseudogene			"""keratin 19 pseudogene 5"""	KRT19P5			Standard	NR_036685		Approved		uc001tdk.2		OTTHUMG00000170700		12.37:g.95228373G>T								NR_036685.1						0	144	+									RNA	SNP	ENST00000405395.2	37																																																																																						0.537	KRT19P2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410053.1	NT_019546		8	13	1	0	5.18039e-06	1	5.91835e-06	8	13				
FTH1	2495	broad.mit.edu	37	11	61732269	61732269	+	Missense_Mutation	SNP	G	G	A	rs567291043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61732269G>A	ENST00000273550.7	-	4	716	c.482C>T	c.(481-483)gCg>gTg	p.A161V	FTH1_ENST00000532601.1_Missense_Mutation_p.A91V|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.A131V|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	161					cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGATTCGGGCGCTCCCATCTT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18432	0.0		0.0	False		,,,				2504	0.0					ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(481-483)gCg>gTg		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						57.0	54.0	55.0					11																	61732269		1877	4089	5966	SO:0001583	missense	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732269G>A		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.482C>T	11.37:g.61732269G>A	ENSP00000273550:p.Ala161Val					FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000526640.1_Missense_Mutation_p.A131V|FTH1_ENST00000532601.1_Missense_Mutation_p.A91V	p.A161V	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			4	716	-			161					B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	c.482C>T	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	18.73	3.687122	0.68157	.	.	ENSG00000167996	ENST00000273550;ENST00000406545;ENST00000526640;ENST00000532601	T;T;T	0.68903	-0.36;-0.36;-0.36	5.13	5.13	0.70059	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.050236	0.85682	D	0.000000	T	0.71099	0.3300	M	0.88377	2.95	0.58432	D	0.999998	D	0.60160	0.987	B	0.37601	0.254	T	0.81035	-0.1115	10	0.62326	D	0.03	.	18.6347	0.91372	0.0:0.0:1.0:0.0	rs11554842;rs11554842	161	P02794	FRIH_HUMAN	V	161;210;131;91	ENSP00000273550:A161V;ENSP00000433321:A131V;ENSP00000435111:A91V	ENSP00000273550:A161V	A	-	2	0	FTH1	61488845	1.000000	0.71417	0.990000	0.47175	0.933000	0.57130	5.568000	0.67385	2.563000	0.86464	0.558000	0.71614	GCG		0.502	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		7	47	0	0	0	1	0	7	47				
C4BPA	722	broad.mit.edu	37	1	207297591	207297591	+	Missense_Mutation	SNP	G	G	A	rs143323893	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207297591G>A	ENST00000367070.3	+	6	780	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	196	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTACGCATACGGCTTTTCTGT	0.478																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(586-588)Ggc>Agc		complement component 4 binding protein, alpha		G	SER/GLY	0,4406		0,0,2203	94.0	97.0	96.0		586	3.8	0.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	C4BPA	NM_000715.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	196/598	207297591	1,13005	2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297591G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.586G>A	1.37:g.207297591G>A	ENSP00000356037:p.Gly196Ser						p.G196S	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			6	780	+			196			Sushi 3.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.586G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349446	0.41599	0.0	1.16E-4	ENSG00000123838	ENST00000367070	T	0.72394	-0.65	5.71	3.83	0.44106	Complement control module (2);Sushi/SCR/CCP (3);	0.292770	0.29876	N	0.010972	D	0.84651	0.5519	M	0.91663	3.23	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75800	-0.3190	10	0.56958	D	0.05	.	8.085	0.30767	0.0846:0.1595:0.7559:0.0	.	196	P04003	C4BPA_HUMAN	S	196	ENSP00000356037:G196S	ENSP00000356037:G196S	G	+	1	0	C4BPA	205364214	0.951000	0.32395	0.011000	0.14972	0.017000	0.09413	2.532000	0.45659	0.869000	0.35703	0.650000	0.86243	GGC		0.478	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			8	80	0	0	0	1	0	8	80				
MTMR3	8897	broad.mit.edu	37	22	30416049	30416049	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416049A>C	ENST00000401950.2	+	17	2743	c.2401A>C	c.(2401-2403)Att>Ctt	p.I801L	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.I801L|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.I801L|MTMR3_ENST00000323630.5_Missense_Mutation_p.I665L|MTMR3_ENST00000406629.1_Missense_Mutation_p.I801L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	801					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AATAGAAGAGATTGCAGAGGG	0.537																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2401-2403)Att>Ctt		myotubularin related protein 3							97.0	94.0	95.0					22																	30416049		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416049A>C	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2401A>C	22.37:g.30416049A>C	ENSP00000384651:p.Ile801Leu					MTMR3_ENST00000323630.5_Missense_Mutation_p.I665L|MTMR3_ENST00000406629.1_Missense_Mutation_p.I801L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.I801L|MTMR3_ENST00000401950.2_Missense_Mutation_p.I801L	p.I801L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2729	+			801					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2401A>C	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	0.060	-1.227295	0.01518	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92752	-2.91;-2.88;-3.1;-2.93;-2.88	4.6	-2.97	0.05530	.	6.203330	0.00166	N	0.000001	D	0.82962	0.5151	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.72497	-0.4275	10	0.17369	T	0.5	.	7.2289	0.26030	0.2951:0.3466:0.3582:0.0	.	801;801;801	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	L	801;801;665;801;801	ENSP00000384651:I801L;ENSP00000331649:I801L;ENSP00000318070:I665L;ENSP00000307271:I801L;ENSP00000384077:I801L	ENSP00000318070:I665L	I	+	1	0	MTMR3	28746049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.023000	0.13533	-0.844000	0.04184	-0.313000	0.08912	ATT		0.537	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		8	58	0	0	0	1	0	8	58				
KIF25	3834	broad.mit.edu	37	6	168445637	168445637	+	Silent	SNP	G	G	A	rs139018818		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168445637G>A	ENST00000443060.2	+	10	1507	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	KIF25_ENST00000354419.2_Silent_p.P372P|KIF25_ENST00000351261.3_Silent_p.P320P			Q9UIL4	KIF25_HUMAN	kinesin family member 25	372					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GAAAGAAGCCGCCCAGCTCCC	0.547																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1114-1116)ccG>ccA		kinesin family member 25		G	,	1,4405	2.1+/-5.4	0,1,2202	64.0	75.0	71.0		960,1116	-8.2	0.0	6	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	320/333,372/385	168445637	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168445637G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.1116G>A	6.37:g.168445637G>A						KIF25_ENST00000351261.3_Silent_p.P320P|KIF25_ENST00000354419.2_Silent_p.P372P	p.P372P			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	10	1507	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	372					O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.1116G>A	CCDS5305.1																																																																																				0.547	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			26	40	0	0	0	1	0	26	40				
DENND2A	27147	broad.mit.edu	37	7	140287481	140287481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140287481C>T	ENST00000275884.6	-	3	1512	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	DENND2A_ENST00000492720.1_Silent_p.S365S|DENND2A_ENST00000537639.1_Silent_p.S365S|DENND2A_ENST00000496613.1_Silent_p.S365S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	365					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CGTTCTCCTCCGATAAAGTGC	0.527																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1093-1095)tcG>tcA		DENN/MADD domain containing 2A							109.0	115.0	113.0					7																	140287481		2063	4192	6255	SO:0001819	synonymous_variant	27147							g.chr7:140287481C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1095G>A	7.37:g.140287481C>T						DENND2A_ENST00000492720.1_Silent_p.S365S|DENND2A_ENST00000537639.1_Silent_p.S365S|DENND2A_ENST00000496613.1_Silent_p.S365S	p.S365S			Q9ULE3	DEN2A_HUMAN			3	1512	-	Melanoma(164;0.00956)		365					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.1095G>A	CCDS43659.1																																																																																				0.527	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		25	114	0	0	0	1	0	25	114				
GPR161	23432	broad.mit.edu	37	1	168054973	168054973	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168054973G>A	ENST00000367838.1	-	8	1699	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	GPR161_ENST00000537209.1_Silent_p.Y482Y|GPR161_ENST00000271357.5_Silent_p.Y462Y|GPR161_ENST00000367836.1_Silent_p.Y330Y|GPR161_ENST00000361697.2_Silent_p.Y462Y|GPR161_ENST00000367835.1_Silent_p.Y462Y|GPR161_ENST00000546300.1_Silent_p.Y348Y|GPR161_ENST00000539777.1_Silent_p.Y384Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	462					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGCTTGCTGCGTAACTGTCCA	0.512																																						ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1384-1386)taC>taT		G protein-coupled receptor 161							63.0	58.0	60.0					1																	168054973		2203	4300	6503	SO:0001819	synonymous_variant	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168054973G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1386C>T	1.37:g.168054973G>A						GPR161_ENST00000546300.1_Silent_p.Y348Y|GPR161_ENST00000367836.1_Silent_p.Y330Y|GPR161_ENST00000271357.5_Silent_p.Y462Y|GPR161_ENST00000537209.1_Silent_p.Y482Y|GPR161_ENST00000539777.1_Silent_p.Y384Y|GPR161_ENST00000367835.1_Silent_p.Y462Y|GPR161_ENST00000361697.2_Silent_p.Y462Y	p.Y462Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			8	1699	-	all_hematologic(923;0.215)		462					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	c.1386C>T	CCDS1268.1																																																																																				0.512	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		16	36	0	0	0	1	0	16	36				
KAT5	10524	broad.mit.edu	37	11	65481966	65481966	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65481966G>T	ENST00000377046.3	+	8	864	c.592G>T	c.(592-594)Gac>Tac	p.D198Y	KAT5_ENST00000530446.1_Splice_Site_p.D179Y|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000352980.4_Splice_Site_p.D146Y|KAT5_ENST00000341318.4_Splice_Site_p.D231Y	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	198					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CCCTGGGCAGGACTCCCAGGA	0.552																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.e7-1		K(lysine) acetyltransferase 5							50.0	46.0	48.0					11																	65481966		2201	4297	6498	SO:0001630	splice_region_variant	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65481966G>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.592-1G>T	11.37:g.65481966G>T						KAT5_ENST00000377046.3_Splice_Site_p.D198_splice|KAT5_ENST00000352980.4_Splice_Site_p.D146_splice|KAT5_ENST00000530446.1_Splice_Site_p.D179_splice|KAT5_ENST00000534650.1_5'UTR	p.D231_splice	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			7	925	+			198					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Splice_Site	SNP	ENST00000377046.3	37	c.690_splice	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906817	0.72868	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.49432	0.91;0.9;0.89;0.89;0.81;0.78	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	L	0.55213	1.73	0.80722	D	1	P;P;D;P	0.57571	0.781;0.878;0.98;0.593	B;B;P;B	0.59643	0.344;0.359;0.861;0.197	T	0.55823	-0.8080	9	.	.	.	-25.7378	13.8429	0.63451	0.0:0.0:1.0:0.0	.	179;231;146;198	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	Y	198;146;231;179;140;192	ENSP00000366245:D198Y;ENSP00000344955:D146Y;ENSP00000340330:D231Y;ENSP00000434765:D179Y;ENSP00000436000:D140Y;ENSP00000436012:D192Y	.	D	+	1	0	KAT5	65238542	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	8.894000	0.92506	2.626000	0.88956	0.561000	0.74099	GAC		0.552	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	Missense_Mutation	15	17	1	0	2.32078e-09	1	2.82054e-09	15	17				
C4orf50	389197	broad.mit.edu	37	4	5977631	5977631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5977631G>T	ENST00000324058.5	-	3	309	c.220C>A	c.(220-222)Ctg>Atg	p.L74M	C4orf50_ENST00000531445.1_Missense_Mutation_p.L548M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	74										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATTACCTTCAGGGGAGTCACT	0.363																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1642-1644)Ctg>Atg		chromosome 4 open reading frame 50							115.0	111.0	112.0					4																	5977631		2203	4299	6502	SO:0001583	missense	389197							g.chr4:5977631G>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.220C>A	4.37:g.5977631G>T	ENSP00000317287:p.Leu74Met					C4orf50_ENST00000324058.5_Missense_Mutation_p.L74M	p.L548M			Q6ZRC1	CD050_HUMAN			3	1688	-			74						Missense_Mutation	SNP	ENST00000324058.5	37	c.1642C>A		.	.	.	.	.	.	.	.	.	.	G	13.18	2.158717	0.38119	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.39229	1.09;1.09	3.2	-0.0509	0.13828	.	0.247633	0.20608	N	0.089030	T	0.56202	0.1969	M	0.69823	2.125	0.22034	N	0.999406	D	0.89917	1.0	D	0.87578	0.998	T	0.46596	-0.9180	10	0.72032	D	0.01	-7.0316	7.0153	0.24885	0.2154:0.0:0.7846:0.0	.	74	Q6ZRC1	CD050_HUMAN	M	548;74	ENSP00000437121:L548M;ENSP00000317287:L74M	ENSP00000317287:L74M	L	-	1	2	C4orf50	6028532	0.864000	0.29904	0.280000	0.24747	0.175000	0.22909	0.520000	0.22878	-0.174000	0.10743	0.455000	0.32223	CTG		0.363	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		6	57	1	0	0.0215528	1	0.0221649	6	57				
PDE12	201626	broad.mit.edu	37	3	57542583	57542583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57542583C>T	ENST00000311180.8	+	1	580	c.477C>T	c.(475-477)cgC>cgT	p.R159R	PDE12_ENST00000487257.1_Silent_p.R159R	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	159					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGGAGCGCAACCCGCCCG	0.622																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(475-477)cgC>cgT		phosphodiesterase 12							38.0	40.0	39.0					3																	57542583		2203	4300	6503	SO:0001819	synonymous_variant	201626						hydrolase activity	g.chr3:57542583C>T	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.477C>T	3.37:g.57542583C>T						PDE12_ENST00000487257.1_Silent_p.R159R	p.R159R	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	580	+			159					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	c.477C>T	CCDS33772.1																																																																																				0.622	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		11	18	0	0	0	1	0	11	18				
PHRF1	57661	broad.mit.edu	37	11	587330	587330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:587330G>A	ENST00000264555.5	+	4	414	c.286G>A	c.(286-288)Gct>Act	p.A96T	PHRF1_ENST00000416188.2_Missense_Mutation_p.A96T|PHRF1_ENST00000413872.2_Missense_Mutation_p.A95T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A92T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	96					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACTGGAAGCCGCTGGCTCTTT	0.557																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(286-288)Gct>Act		PHD and ring finger domains 1							61.0	68.0	65.0					11																	587330		1991	4164	6155	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587330G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.286G>A	11.37:g.587330G>A	ENSP00000264555:p.Ala96Thr					PHRF1_ENST00000416188.2_Missense_Mutation_p.A96T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A92T|PHRF1_ENST00000413872.2_Missense_Mutation_p.A95T	p.A96T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			4	414	+			96					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.286G>A		.	.	.	.	.	.	.	.	.	.	G	6.939	0.543107	0.13250	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.79352	-1.25;-1.25;-1.26;-1.23	4.81	-7.88	0.01178	.	1.820000	0.03418	N	0.205793	T	0.56411	0.1983	N	0.12961	0.28	0.09310	N	1	B;P;P;B	0.35307	0.361;0.494;0.494;0.361	B;B;B;B	0.24848	0.025;0.056;0.056;0.025	T	0.50499	-0.8821	10	0.12766	T	0.61	0.0531	15.9848	0.80144	0.4508:0.0:0.5492:0.0	.	92;95;96;96	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	T	96;95;96;92	ENSP00000264555:A96T;ENSP00000388589:A95T;ENSP00000410626:A96T;ENSP00000431870:A92T	ENSP00000264555:A96T	A	+	1	0	PHRF1	577330	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.270000	0.08584	-1.632000	0.01541	-1.191000	0.01696	GCT		0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		14	31	0	0	0	1	0	14	31				
SLC16A6	9120	broad.mit.edu	37	17	66274235	66274235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66274235A>G	ENST00000327268.4	-	3	391	c.227T>C	c.(226-228)tTt>tCt	p.F76S	SLC16A6_ENST00000580666.1_Missense_Mutation_p.F76S|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	76					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTAACCTGAAAATGTTAAGAC	0.373																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(226-228)tTt>tCt		solute carrier family 16, member 6	Pyruvic acid(DB00119)						72.0	62.0	66.0					17																	66274235		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66274235A>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.227T>C	17.37:g.66274235A>G	ENSP00000319991:p.Phe76Ser					SLC16A6_ENST00000580666.1_Missense_Mutation_p.F76S|ARSG_ENST00000448504.2_Intron	p.F76S	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	391	-	all_cancers(12;1.24e-09)		76					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.227T>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506185	0.26949	.	.	ENSG00000108932	ENST00000327268	T	0.58210	0.35	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056948	0.64402	D	0.000001	T	0.66713	0.2817	M	0.64567	1.98	0.80722	D	1	D	0.57257	0.979	P	0.60473	0.875	T	0.69468	-0.5137	10	0.59425	D	0.04	.	14.6863	0.69052	1.0:0.0:0.0:0.0	.	76	O15403	MOT7_HUMAN	S	76	ENSP00000319991:F76S	ENSP00000319991:F76S	F	-	2	0	SLC16A6	63785830	1.000000	0.71417	0.993000	0.49108	0.432000	0.31715	8.641000	0.91032	2.127000	0.65507	0.533000	0.62120	TTT		0.373	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		16	16	0	0	0	1	0	16	16				
DISP1	84976	broad.mit.edu	37	1	223176061	223176061	+	Missense_Mutation	SNP	C	C	T	rs114523965	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223176061C>T	ENST00000284476.6	+	8	1486	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	441					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCAAAGACGGCTGACTAT	0.458													C|||	5	0.000998403	0.0038	0.0	5008	,	,		21885	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1321-1323)aCg>aTg		dispatched homolog 1 (Drosophila)		C	MET/THR	21,4385	28.1+/-56.4	0,21,2182	73.0	71.0	71.0		1322	3.2	0.0	1	dbSNP_132	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DISP1	NM_032890.3	81	0,22,6481	TT,TC,CC		0.0116,0.4766,0.1692	possibly-damaging	441/1525	223176061	22,12984	2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176061C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1322C>T	1.37:g.223176061C>T	ENSP00000284476:p.Thr441Met						p.T441M	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1486	+			441					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1322C>T	CCDS1536.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	8.201	0.798132	0.16397	0.004766	1.16E-4	ENSG00000154309	ENST00000284476	D	0.86230	-2.09	5.05	3.2	0.36748	.	0.438058	0.29668	N	0.011506	T	0.73329	0.3573	L	0.28400	0.85	0.18873	N	0.999988	B	0.31910	0.346	B	0.32677	0.15	T	0.68413	-0.5415	10	0.59425	D	0.04	-4.1284	9.4538	0.38743	0.0:0.7725:0.0:0.2275	.	441	Q96F81	DISP1_HUMAN	M	441	ENSP00000284476:T441M	ENSP00000284476:T441M	T	+	2	0	DISP1	221242684	0.831000	0.29352	0.003000	0.11579	0.885000	0.51271	1.493000	0.35605	0.735000	0.32537	-0.218000	0.12543	ACG		0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		25	45	0	0	0	1	0	25	45				
USP3	9960	broad.mit.edu	37	15	63866561	63866561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63866561G>A	ENST00000380324.3	+	11	1184	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	USP3_ENST00000539772.1_Missense_Mutation_p.R103H|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000268049.7_Missense_Mutation_p.R330H|USP3_ENST00000558285.1_Missense_Mutation_p.R335H|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.R308H|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000559711.1_Missense_Mutation_p.R263H	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	352	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAAGTAAGCGCTCTAAGAAT	0.308																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(988-990)cGc>cAc		ubiquitin specific peptidase 3							99.0	99.0	99.0					15																	63866561		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63866561G>A	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1055G>A	15.37:g.63866561G>A	ENSP00000369681:p.Arg352His					USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.R308H|USP3_ENST00000380324.3_Missense_Mutation_p.R352H|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.R103H|USP3_ENST00000559711.1_Missense_Mutation_p.R263H|USP3_ENST00000558285.1_Missense_Mutation_p.R335H|USP3_ENST00000536001.1_3'UTR	p.R330H			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	12	1313	+			352					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.989G>A	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999490	0.93227	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.32515	1.95;2.06;2.16;1.45	5.98	5.98	0.97165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.048270	0.85682	D	0.000000	T	0.55065	0.1897	M	0.64080	1.96	0.51767	D	0.999936	D;D;D;D	0.89917	0.998;1.0;0.999;0.999	P;D;D;D	0.68621	0.862;0.959;0.939;0.939	T	0.46233	-0.9206	10	0.46703	T	0.11	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	308;308;330;352	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	H	308;352;330;103;267;183	ENSP00000445828:R308H;ENSP00000369681:R352H;ENSP00000268049:R330H;ENSP00000445642:R103H	ENSP00000268049:R330H	R	+	2	0	USP3	61653614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.285000	0.72658	2.838000	0.97847	0.591000	0.81541	CGC		0.308	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			16	32	0	0	0	1	0	16	32				
SLC44A1	23446	broad.mit.edu	37	9	108120657	108120657	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120657T>C	ENST00000374720.3	+	7	950	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y27H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y235H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	235					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GATAATCAGGTATATATCAAG	0.333																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(703-705)Tat>Cat		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						221.0	208.0	212.0					9																	108120657		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108120657T>C	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.703T>C	9.37:g.108120657T>C	ENSP00000363852:p.Tyr235His					SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y27H	p.Y235H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			7	950	+			235					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.703T>C	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387076	0.82902	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.18502	3.06;3.06;3.07;2.21	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	L	0.56769	1.78	0.51482	D	0.999924	D;D;D	0.76494	0.994;0.994;0.999	D;D;P	0.68192	0.956;0.956;0.897	T	0.05550	-1.0878	10	0.48119	T	0.1	-4.0832	15.4785	0.75504	0.0:0.0:0.0:1.0	.	235;235;235	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	H	235;235;235;27	ENSP00000363855:Y235H;ENSP00000363852:Y235H;ENSP00000363856:Y235H;ENSP00000341856:Y27H	ENSP00000341856:Y27H	Y	+	1	0	SLC44A1	107160478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.623000	0.83113	2.122000	0.65172	0.523000	0.50628	TAT		0.333	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		41	59	0	0	0	1	0	41	59				
NBEAL2	23218	broad.mit.edu	37	3	47041884	47041884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47041884G>A	ENST00000450053.3	+	27	4474	c.4295G>A	c.(4294-4296)aGc>aAc	p.S1432N	NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1248N|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1432					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGAACACCAGCAACCCACAG	0.627																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4294-4296)aGc>aAc		neurobeachin-like 2							30.0	33.0	32.0					3																	47041884		2035	4146	6181	SO:0001583	missense	23218						binding	g.chr3:47041884G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4295G>A	3.37:g.47041884G>A	ENSP00000415034:p.Ser1432Asn					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1248N	p.S1432N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4474	+		Acute lymphoblastic leukemia(5;0.0534)	1432					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4295G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.45|17.45	3.393520|3.393520	0.62066|0.62066	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.57273	.|0.43;0.41	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.112176	.|0.64402	.|D	.|0.000009	T|T	0.45696|0.45696	0.1355|0.1355	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B	.|0.31968	.|0.349	.|B	.|0.29942	.|0.109	T|T	0.33548|0.33548	-0.9864|-0.9864	5|10	.|0.23891	.|T	.|0.37	.|.	16.8449|16.8449	0.85978|0.85978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1432	.|Q6ZNJ1	.|NBEL2_HUMAN	T|N	720|1248;1432	.|ENSP00000292309:S1248N;ENSP00000415034:S1432N	.|ENSP00000292309:S1248N	A|S	+|+	1|2	0|0	NBEAL2|NBEAL2	47016888|47016888	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.761000|0.761000	0.43186|0.43186	6.625000|6.625000	0.74248|0.74248	2.582000|2.582000	0.87167|0.87167	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		4	37	0	0	0	1	0	4	37				
ATRNL1	26033	broad.mit.edu	37	10	117040979	117040979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117040979G>T	ENST00000355044.3	+	14	2341	c.2215G>T	c.(2215-2217)Gaa>Taa	p.E739*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	739	PSI 3.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGACAGCAAGAATGCCAGGC	0.358																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2215-2217)Gaa>Taa		attractin-like 1							86.0	84.0	85.0					10																	117040979		2203	4300	6503	SO:0001587	stop_gained	26033					integral to membrane	sugar binding	g.chr10:117040979G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2215G>T	10.37:g.117040979G>T	ENSP00000347152:p.Glu739*						p.E739*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	14	2341	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	739			PSI 3.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.2215G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	41	8.904688	0.98998	.	.	ENSG00000107518	ENST00000355044	.	.	.	5.63	4.72	0.59763	.	0.188548	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-19.0455	15.8069	0.78520	0.0:0.0:0.8628:0.1372	.	.	.	.	X	739	.	ENSP00000347152:E739X	E	+	1	0	ATRNL1	117030969	1.000000	0.71417	0.686000	0.30086	0.987000	0.75469	4.891000	0.63185	1.341000	0.45600	0.650000	0.86243	GAA		0.358	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		30	44	1	0	8.4185e-14	1	1.07063e-13	30	44				
DGKH	160851	broad.mit.edu	37	13	42763391	42763391	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42763391C>T	ENST00000337343.4	+	15	1879	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	DGKH_ENST00000379274.2_Missense_Mutation_p.R484W|DGKH_ENST00000540693.1_Missense_Mutation_p.R620W|DGKH_ENST00000538674.1_Missense_Mutation_p.R375W|DGKH_ENST00000536612.1_Missense_Mutation_p.R484W|DGKH_ENST00000261491.5_Missense_Mutation_p.R620W|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	620					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATCATGTTGCGGGCAAATAG	0.453																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1450-1452)Cgg>Tgg		diacylglycerol kinase, eta							83.0	80.0	81.0					13																	42763391		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42763391C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1858C>T	13.37:g.42763391C>T	ENSP00000337572:p.Arg620Trp					DGKH_ENST00000536612.1_Missense_Mutation_p.R484W|DGKH_ENST00000337343.4_Missense_Mutation_p.R620W|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.R620W|DGKH_ENST00000538674.1_Missense_Mutation_p.R375W|DGKH_ENST00000261491.4_Missense_Mutation_p.R620W	p.R484W			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	15	1879	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	620					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1450C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075128	0.55646	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;D;D;D;D;T	0.86562	-2.14;-1.96;-2.14;-2.07;-2.08;1.04	5.72	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.82823	2.61	0.54753	D	0.999984	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.78314	0.971;0.985;0.98;0.991	D	0.94232	0.7477	10	0.87932	D	0	.	14.3358	0.66589	0.3827:0.6173:0.0:0.0	.	375;484;620;620	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	W	620;620;620;484;484;375	ENSP00000440823:R620W;ENSP00000337572:R620W;ENSP00000261491:R620W;ENSP00000368576:R484W;ENSP00000445114:R484W;ENSP00000441308:R375W	ENSP00000261491:R620W	R	+	1	2	DGKH	41661391	0.999000	0.42202	0.932000	0.37286	0.513000	0.34164	1.709000	0.37909	1.367000	0.46095	0.655000	0.94253	CGG		0.453	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		9	50	0	0	0	1	0	9	50				
ZNF232	7775	broad.mit.edu	37	17	5013046	5013046	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5013046C>A	ENST00000250076.3	-	3	795	c.141G>T	c.(139-141)gaG>gaT	p.E47D	ZNF232_ENST00000575898.1_Missense_Mutation_p.E47D|ZNF232_ENST00000416429.2_Missense_Mutation_p.E20D|AC012146.7_ENST00000571138.1_RNA|AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	20					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCATCATCTTCTCTTGTCCCT	0.512																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(139-141)gaG>gaT		zinc finger protein 232							174.0	158.0	164.0					17																	5013046		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5013046C>A	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.141G>T	17.37:g.5013046C>A	ENSP00000250076:p.Glu47Asp					ZNF232_ENST00000416429.2_Missense_Mutation_p.E20D|ZNF232_ENST00000575898.1_Missense_Mutation_p.E47D|ZNF232_ENST00000575538.1_5'UTR	p.E47D	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			3	795	-			20						Missense_Mutation	SNP	ENST00000250076.3	37	c.141G>T	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	7.356	0.623786	0.14193	.	.	ENSG00000167840	ENST00000250076;ENST00000416429	T;T	0.08370	3.1;3.37	2.92	-2.69	0.06022	.	0.521772	0.14396	N	0.322235	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	P;D;D;D	0.64830	0.849;0.99;0.99;0.994	B;P;P;P	0.54706	0.222;0.579;0.579;0.759	T	0.35798	-0.9774	10	0.25751	T	0.34	.	7.515	0.27596	0.0:0.3809:0.0:0.6191	.	47;20;20;20	B4DNA7;B4DP49;Q9UNY5;Q9UNY5-2	.;.;ZN232_HUMAN;.	D	47;20	ENSP00000250076:E47D;ENSP00000416430:E20D	ENSP00000250076:E47D	E	-	3	2	ZNF232	4953770	0.001000	0.12720	0.012000	0.15200	0.027000	0.11550	0.301000	0.19174	-0.595000	0.05828	-0.291000	0.09656	GAG		0.512	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		28	45	1	0	1.68575e-08	1	2.02034e-08	28	45				
OTUD4	54726	broad.mit.edu	37	4	146059313	146059313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146059313C>T	ENST00000447906.2	-	21	2801	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	OTUD4_ENST00000454497.2_Missense_Mutation_p.E807K|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	872					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTGGATTTTCTATGAATCCC	0.433																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2419-2421)Gaa>Aaa		OTU domain containing 4							42.0	42.0	42.0					4																	146059313		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059313C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2614G>A	4.37:g.146059313C>T	ENSP00000395487:p.Glu872Lys					OTUD4_ENST00000447906.2_Missense_Mutation_p.E872K|OTUD4_ENST00000455611.2_Intron	p.E807K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2556	-	all_hematologic(180;0.151)		871					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2419G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.708372	0.89018	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.54866	0.58;0.55	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.66137	0.2759	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.67337	-0.5696	10	0.87932	D	0	-21.9242	20.2366	0.98359	0.0:1.0:0.0:0.0	.	872;871	G3V0I6;Q01804	.;OTUD4_HUMAN	K	807;872	ENSP00000409279:E807K;ENSP00000395487:E872K	ENSP00000395487:E872K	E	-	1	0	OTUD4	146278763	0.999000	0.42202	0.990000	0.47175	0.996000	0.88848	5.359000	0.66074	2.792000	0.96026	0.557000	0.71058	GAA		0.433	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		21	27	0	0	0	1	0	21	27				
NNT	23530	broad.mit.edu	37	5	43656860	43656860	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43656860G>T	ENST00000264663.5	+	16	2620	c.2399G>T	c.(2398-2400)aGc>aTc	p.S800I	NNT_ENST00000344920.4_Missense_Mutation_p.S800I|NNT_ENST00000512996.2_Missense_Mutation_p.S669I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	800					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GTGGACCCAAGCTTTACTACT	0.493																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2398-2400)aGc>aTc		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						216.0	186.0	197.0					5																	43656860		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43656860G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2399G>T	5.37:g.43656860G>T	ENSP00000264663:p.Ser800Ile					NNT_ENST00000512996.2_Missense_Mutation_p.S669I|NNT_ENST00000344920.4_Missense_Mutation_p.S800I	p.S800I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			16	2620	+	Lung NSC(6;2.58e-06)		800					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2399G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416718	0.62511	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91996	-2.95;-2.95;-2.95	5.52	5.52	0.82312	.	0.035368	0.85682	D	0.000000	D	0.95655	0.8587	M	0.87827	2.91	0.80722	D	1	D	0.53745	0.962	P	0.56216	0.794	D	0.96051	0.9031	10	0.87932	D	0	-20.2742	16.7647	0.85521	0.0:0.1287:0.8713:0.0	.	800	Q13423	NNTM_HUMAN	I	315;800;800;669	ENSP00000264663:S800I;ENSP00000343873:S800I;ENSP00000426343:S669I	ENSP00000264663:S800I	S	+	2	0	NNT	43692617	1.000000	0.71417	0.988000	0.46212	0.156000	0.22039	6.329000	0.72920	2.767000	0.95098	0.655000	0.94253	AGC		0.493	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		34	41	1	0	6.05902e-23	1	8.00884e-23	34	41				
ELP4	26610	broad.mit.edu	37	11	31805058	31805058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:31805058C>T	ENST00000350638.5	+	10	1296	c.1261C>T	c.(1261-1263)Cac>Tac	p.H421Y	ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.A468V|Z83307.3_ENST00000606377.1_lincRNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	421					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGGCAAGAAGCACCTGGACTT	0.473																																						ENST00000350638.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(1261-1263)Cac>Tac		elongator acetyltransferase complex subunit 4							57.0	64.0	62.0					11																	31805058		1934	4141	6075	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31805058C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1261C>T	11.37:g.31805058C>T	ENSP00000298937:p.His421Tyr					ELP4_ENST00000379163.5_Missense_Mutation_p.A468V|ELP4_ENST00000395934.2_3'UTR	p.H421Y	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN			10	1296	+	Lung SC(675;0.225)		421					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1261C>T	CCDS7875.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.217636|5.217636	0.95104|0.95104	.|.	.|.	ENSG00000109911|ENSG00000109911	ENST00000379163|ENST00000350638	T|T	0.51817|0.43688	0.69|0.94	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|.	.|.	.|.	.|.	T|T	0.63153|0.63153	0.2487|0.2487	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D|D	0.76494|0.65815	0.999|0.995	D|P	0.68039|0.62014	0.955|0.897	T|T	0.61471|0.61471	-0.7056|-0.7056	9|9	0.87932|0.54805	D|T	0|0.06	.|.	20.2786|20.2786	0.98501|0.98501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	468|421	B4E3W0|Q96EB1	.|ELP4_HUMAN	V|Y	468|421	ENSP00000368461:A468V|ENSP00000298937:H421Y	ENSP00000368461:A468V|ENSP00000298937:H421Y	A|H	+|+	2|1	0|0	ELP4|ELP4	31761634|31761634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.479000|5.479000	0.66813|0.66813	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GCA|CAC		0.473	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		7	66	0	0	0	1	0	7	66				
TOR4A	54863	broad.mit.edu	37	9	140174000	140174000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140174000C>T	ENST00000357503.2	+	2	1055	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	287					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										GCAGCCGCAGCGCTCCCACCA	0.697																																						ENST00000357503.2																			0											c.(859-861)Cgc>Tgc		torsin family 4, member A							12.0	12.0	12.0					9																	140174000		2102	4121	6223	SO:0001583	missense	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140174000C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.859C>T	9.37:g.140174000C>T	ENSP00000350102:p.Arg287Cys						p.R287C	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	1055	+			287					A2BFA4	Missense_Mutation	SNP	ENST00000357503.2	37	c.859C>T	CCDS7041.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486078	0.44147	.	.	ENSG00000198113	ENST00000357503	T	0.50277	0.75	4.99	4.1	0.47936	ATPase, AAA+ type, core (1);	0.623726	0.16858	N	0.196641	T	0.56702	0.2003	L	0.54323	1.7	0.20926	N	0.999825	D	0.89917	1.0	P	0.56278	0.795	T	0.49771	-0.8904	10	0.56958	D	0.05	-15.1226	12.0627	0.53570	0.0:0.9147:0.0:0.0853	.	287	Q9NXH8	CI167_HUMAN	C	287	ENSP00000350102:R287C	ENSP00000350102:R287C	R	+	1	0	C9orf167	139293821	0.006000	0.16342	0.875000	0.34327	0.030000	0.12068	1.881000	0.39638	1.072000	0.40860	-0.136000	0.14681	CGC		0.697	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		3	4	0	0	0	1	0	3	4				
PTPRA	5786	broad.mit.edu	37	20	3002788	3002788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002788C>T	ENST00000216877.6	+	14	1623	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	PTPRA_ENST00000358719.4_Missense_Mutation_p.P273L|PTPRA_ENST00000380393.3_Missense_Mutation_p.P417L|PTPRA_ENST00000399903.2_Missense_Mutation_p.P417L|PTPRA_ENST00000425918.2_Missense_Mutation_p.P428L|PTPRA_ENST00000318266.5_Missense_Mutation_p.P408L|PTPRA_ENST00000356147.3_Missense_Mutation_p.P408L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	417	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTTTTACCCCGATCGGCATG	0.562																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1222-1224)cCg>cTg		protein tyrosine phosphatase, receptor type, A							177.0	138.0	151.0					20																	3002788		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3002788C>T		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1223C>T	20.37:g.3002788C>T	ENSP00000216877:p.Pro408Leu					PTPRA_ENST00000358719.4_Missense_Mutation_p.P273L|PTPRA_ENST00000356147.3_Missense_Mutation_p.P408L|PTPRA_ENST00000380393.3_Missense_Mutation_p.P417L|PTPRA_ENST00000425918.2_Missense_Mutation_p.P428L|PTPRA_ENST00000399903.2_Missense_Mutation_p.P417L|PTPRA_ENST00000318266.5_Missense_Mutation_p.P408L	p.P408L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			14	1623	+			417			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1223C>T	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357482	0.95854	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.39384	0.1076	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.998	T	0.14531	-1.0469	10	0.87932	D	0	.	20.1218	0.97964	0.0:1.0:0.0:0.0	.	428;417;408	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	L	417;408;417;273;27;428;408;408	ENSP00000369756:P417L;ENSP00000216877:P408L;ENSP00000382787:P417L;ENSP00000351559:P273L;ENSP00000393553:P428L;ENSP00000314568:P408L;ENSP00000348468:P408L	ENSP00000216877:P408L	P	+	2	0	PTPRA	2950788	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.818000	0.86416	2.763000	0.94921	0.561000	0.74099	CCG		0.562	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			27	42	0	0	0	1	0	27	42				
THRSP	7069	broad.mit.edu	37	11	77775031	77775031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77775031G>A	ENST00000281030.2	+	1	125	c.104G>A	c.(103-105)aGc>aAc	p.S35N	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	35					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			ATGATCCCCAGCCTTCTGCGG	0.612																																						ENST00000281030.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(103-105)aGc>aAc		thyroid hormone responsive							92.0	84.0	87.0					11																	77775031		2200	4292	6492	SO:0001583	missense	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775031G>A	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"""SPOT14 homolog (rat)"""	601926	"""thyroid hormone responsive SPOT14 (rat) homolog"", ""lipogenic protein 1"""	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.104G>A	11.37:g.77775031G>A	ENSP00000281030:p.Ser35Asn					NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	p.S35N	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	125	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		35					B2R4W7	Missense_Mutation	SNP	ENST00000281030.2	37	c.104G>A	CCDS8256.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005980	0.74932	.	.	ENSG00000151365	ENST00000281030	.	.	.	5.21	4.28	0.50868	.	0.098182	0.64402	D	0.000003	T	0.62221	0.2410	.	.	.	0.44207	D	0.997031	P	0.47604	0.898	P	0.47573	0.55	T	0.67639	-0.5619	8	0.62326	D	0.03	-8.1086	14.7686	0.69659	0.0:0.1455:0.8545:0.0	.	35	Q92748	THRSP_HUMAN	N	35	.	ENSP00000281030:S35N	S	+	2	0	THRSP	77452679	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.163000	0.64948	1.415000	0.47037	0.561000	0.74099	AGC		0.612	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		51	57	0	0	0	1	0	51	57				
COCH	1690	broad.mit.edu	37	14	31354669	31354669	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31354669A>G	ENST00000396618.3	+	10	859	c.803A>G	c.(802-804)aAa>aGa	p.K268R	RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.K119R|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.K268R|COCH_ENST00000216361.4_Missense_Mutation_p.K268R|COCH_ENST00000460581.2_Missense_Mutation_p.K156R|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	268	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGGATCCCCAAAGTGGTGGTG	0.418																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(466-468)aAa>aGa		cochlin							155.0	142.0	146.0					14																	31354669		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31354669A>G		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.803A>G	14.37:g.31354669A>G	ENSP00000379862:p.Lys268Arg					COCH_ENST00000382493.4_Missense_Mutation_p.K119R|COCH_ENST00000396618.3_Missense_Mutation_p.K268R|COCH_ENST00000475087.1_Missense_Mutation_p.K268R|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.K268R	p.K156R			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	8	1013	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		268					A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.467A>G	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.66|14.66	2.601565|2.601565	0.46423|0.46423	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000555881;ENST00000460581;ENST00000542225;ENST00000382493	D|D;D;D;D;D;D	0.86865|0.86164	-2.18|-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.6|5.6	5.6|5.6	0.85130|0.85130	.|von Willebrand factor, type A (3);	0.046698|0.046698	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.75671|0.75671	0.3881|0.3881	N|N	0.16368|0.16368	0.405|0.405	0.38741|0.38741	D|D	0.953891|0.953891	.|B;B;B	.|0.16603	.|0.018;0.01;0.01	.|B;B;B	.|0.20184	.|0.028;0.015;0.015	T|T	0.70699|0.70699	-0.4800|-0.4800	7|10	.|0.12766	.|T	.|0.61	-16.471|-16.471	10.9185|10.9185	0.47150|0.47150	0.9272:0.0:0.0728:0.0|0.9272:0.0:0.0728:0.0	.|.	.|119;268;268	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	E|R	152|268;268;268;150;156;156;119	ENSP00000452284:K152E|ENSP00000216361:K268R;ENSP00000379862:K268R;ENSP00000451528:K268R;ENSP00000452569:K150R;ENSP00000451713:K156R;ENSP00000371933:K119R	.|ENSP00000216361:K268R	K|K	+|+	1|2	0|0	COCH|COCH	30424420|30424420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.513000|3.513000	0.53414|0.53414	2.123000|2.123000	0.65237|0.65237	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.418	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		5	93	0	0	0	1	0	5	93				
DMTF1	9988	broad.mit.edu	37	7	86803975	86803975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86803975G>A	ENST00000394703.5	+	9	1072	c.509G>A	c.(508-510)cGc>cAc	p.R170H	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.R129H|DMTF1_ENST00000413276.2_Missense_Mutation_p.R170H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R170H|DMTF1_ENST00000394702.3_Missense_Mutation_p.R170H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R82H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	170	Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AATATTGAACGCTATCTTAAG	0.303																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(508-510)cGc>cAc		cyclin D binding myb-like transcription factor 1							122.0	123.0	122.0					7																	86803975		2203	4296	6499	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86803975G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.509G>A	7.37:g.86803975G>A	ENSP00000378193:p.Arg170His					DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.R170H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R170H|DMTF1_ENST00000411766.2_Missense_Mutation_p.R129H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R82H|DMTF1_ENST00000394702.3_Missense_Mutation_p.R170H	p.R170H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			9	1072	+	Esophageal squamous(14;0.0058)		170			Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.509G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966159	0.92855	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000425406;ENST00000411766;ENST00000432937;ENST00000394703;ENST00000412139;ENST00000425705	T;T;T;T	0.47869	0.83;0.87;0.83;0.83	5.48	5.48	0.80851	.	0.049797	0.85682	D	0.000000	T	0.58409	0.2120	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	P	0.56514	0.8	T	0.57219	-0.7849	10	0.51188	T	0.08	-4.0372	18.7114	0.91658	0.0:0.0:1.0:0.0	.	170	Q9Y222	DMTF1_HUMAN	H	170;170;170;170;129;129;82;170;170;170	ENSP00000332171:R170H;ENSP00000402627:R170H;ENSP00000412532:R82H;ENSP00000378193:R170H	ENSP00000332171:R170H	R	+	2	0	DMTF1	86641911	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.474000	0.60203	2.730000	0.93505	0.655000	0.94253	CGC		0.303	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		39	42	0	0	0	1	0	39	42				
MUT	4594	broad.mit.edu	37	6	49412430	49412430	+	Missense_Mutation	SNP	C	C	T	rs139765234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49412430C>T	ENST00000274813.3	-	9	1725	c.1598G>A	c.(1597-1599)tGt>tAt	p.C533Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	533					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGCAAGACAACGTTCAGC	0.438																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1597-1599)tGt>tAt		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	TYR/CYS	0,4406		0,0,2203	167.0	159.0	161.0		1598	3.5	0.1	6	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUT	NM_000255.3	194	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	533/751	49412430	1,13005	2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49412430C>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1598G>A	6.37:g.49412430C>T	ENSP00000274813:p.Cys533Tyr						p.C533Y	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			9	1725	-	Lung NSC(77;0.0376)		533					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1598G>A	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132629	0.37630	0.0	1.16E-4	ENSG00000146085	ENST00000274813	D	0.98207	-4.79	5.31	3.51	0.40186	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.099447	0.64402	D	0.000001	D	0.97328	0.9126	M	0.75777	2.31	0.58432	D	0.999991	P	0.40834	0.73	P	0.49922	0.626	D	0.96782	0.9576	10	0.87932	D	0	-1.8524	10.3797	0.44104	0.0:0.6775:0.2513:0.0712	.	533	P22033	MUTA_HUMAN	Y	533	ENSP00000274813:C533Y	ENSP00000274813:C533Y	C	-	2	0	MUT	49520389	1.000000	0.71417	0.079000	0.20413	0.230000	0.25150	2.596000	0.46205	0.708000	0.31955	0.585000	0.79938	TGT		0.438	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			64	87	0	0	0	1	0	64	87				
ARID1A	8289	broad.mit.edu	37	1	27105658	27105658	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27105658G>T	ENST00000324856.7	+	20	5640	c.5269G>T	c.(5269-5271)Gct>Tct	p.A1757S	ARID1A_ENST00000540690.1_Missense_Mutation_p.A85S|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1540S|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1374S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1757					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTAGTCCAGCTCCCATGGA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5269-5271)Gct>Tct		AT rich interactive domain 1A (SWI-like)							76.0	80.0	79.0					1																	27105658		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105658G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5269G>T	1.37:g.27105658G>T	ENSP00000320485:p.Ala1757Ser					ARID1A_ENST00000457599.2_Missense_Mutation_p.A1540S|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1374S|ARID1A_ENST00000540690.1_Missense_Mutation_p.A85S	p.A1757S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5640	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1757					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5269G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.725|5.725	0.318204|0.318204	0.10845|0.10845	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.09445|.	4.55;4.36;4.37;2.98|.	5.06|5.06	1.94|1.94	0.25998|0.25998	.|.	0.586820|.	0.19607|.	N|.	0.110245|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.11201|0.11201	0.11|0.11	0.09310|0.09310	N|N	0.999995|0.999995	B;B;B|.	0.11235|.	0.004;0.003;0.001|.	B;B;B|.	0.06405|.	0.001;0.001;0.002|.	T|T	0.22138|0.22138	-1.0225|-1.0225	10|5	0.06891|.	T|.	0.86|.	-0.0721|-0.0721	4.6729|4.6729	0.12698|0.12698	0.0778:0.1158:0.4917:0.3147|0.0778:0.1158:0.4917:0.3147	.|.	1374;1757;1540|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	S|I	1757;1540;1374;85|653	ENSP00000320485:A1757S;ENSP00000387636:A1540S;ENSP00000363267:A1374S;ENSP00000442437:A85S|.	ENSP00000320485:A1757S|.	A|S	+|+	1|2	0|0	ARID1A|ARID1A	26978245|26978245	0.034000|0.034000	0.19679|0.19679	0.898000|0.898000	0.35279|0.35279	0.868000|0.868000	0.49771|0.49771	0.160000|0.160000	0.16462|0.16462	0.816000|0.816000	0.34421|0.34421	-0.293000|-0.293000	0.09583|0.09583	GCT|AGC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		42	69	1	0	1.96642e-18	1	2.56383e-18	42	69				
SMG6	23293	broad.mit.edu	37	17	2203472	2203472	+	Missense_Mutation	SNP	G	G	A	rs186532415		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2203472G>A	ENST00000263073.6	-	2	625	c.575C>T	c.(574-576)gCg>gTg	p.A192V	SMG6_ENST00000544865.1_Missense_Mutation_p.A161V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	192	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGTTTATTCGCAACTTCCTC	0.522																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(481-483)gCg>gTg		SMG6 nonsense mediated mRNA decay factor							256.0	278.0	271.0					17																	2203472		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203472G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.575C>T	17.37:g.2203472G>A	ENSP00000263073:p.Ala192Val					SMG6_ENST00000263073.5_Missense_Mutation_p.A192V	p.A161V			Q86US8	EST1A_HUMAN			2	992	-			192			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.482C>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.736820	0.00681	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.08282	3.11;3.11	5.33	2.97	0.34412	.	2.698500	0.00927	N	0.002671	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37430	-0.9706	10	0.22706	T	0.39	4.3192	1.1355	0.01754	0.3558:0.266:0.0872:0.291	.	192	Q86US8	EST1A_HUMAN	V	192;161	ENSP00000263073:A192V;ENSP00000443920:A161V	ENSP00000263073:A192V	A	-	2	0	SMG6	2150222	0.000000	0.05858	0.068000	0.19968	0.084000	0.17831	0.512000	0.22755	0.306000	0.22856	-0.254000	0.11334	GCG		0.522	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			105	232	0	0	0	1	0	105	232				
AKR7A3	22977	broad.mit.edu	37	1	19609371	19609371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19609371C>T	ENST00000361640.4	-	7	1390	c.850G>A	c.(850-852)Gcg>Acg	p.A284T		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	284					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGATGACCGCGTCCCCGTGG	0.642																																						ENST00000361640.4																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(850-852)Gcg>Acg		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							28.0	30.0	29.0					1																	19609371		2196	4289	6485	SO:0001583	missense	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19609371C>T	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.850G>A	1.37:g.19609371C>T	ENSP00000355377:p.Ala284Thr						p.A284T	NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	1390	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	284					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	c.850G>A	CCDS193.1	.	.	.	.	.	.	.	.	.	.	.	12.36	1.915424	0.33815	.	.	ENSG00000162482	ENST00000361640	T	0.23552	1.9	3.59	3.59	0.41128	NADP-dependent oxidoreductase domain (3);	0.113215	0.64402	D	0.000010	T	0.28797	0.0714	M	0.71920	2.185	0.41210	D	0.986433	B	0.27316	0.175	B	0.23716	0.048	T	0.19516	-1.0303	10	0.52906	T	0.07	.	12.6869	0.56952	0.0:1.0:0.0:0.0	.	284	O95154	ARK73_HUMAN	T	284	ENSP00000355377:A284T	ENSP00000355377:A284T	A	-	1	0	AKR7A3	19481958	0.998000	0.40836	0.987000	0.45799	0.121000	0.20230	4.740000	0.62087	1.526000	0.49068	0.205000	0.17691	GCG		0.642	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		17	16	0	0	0	1	0	17	16				
SRRT	51593	broad.mit.edu	37	7	100482442	100482442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100482442G>A	ENST00000347433.4	+	8	1182	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SRRT_ENST00000457580.2_Missense_Mutation_p.E342K|SRRT_ENST00000388793.4_Missense_Mutation_p.E342K|SRRT_ENST00000432932.1_Missense_Mutation_p.E342K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	342	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAAGACTCCGAGAAGGAAGC	0.517																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1024-1026)Gag>Aag		serrate RNA effector molecule homolog (Arabidopsis)							86.0	93.0	90.0					7																	100482442		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482442G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1024G>A	7.37:g.100482442G>A	ENSP00000314491:p.Glu342Lys					SRRT_ENST00000432932.1_Missense_Mutation_p.E342K|SRRT_ENST00000347433.4_Missense_Mutation_p.E342K|SRRT_ENST00000457580.2_Missense_Mutation_p.E342K	p.E342K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			8	1244	+			342			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1024G>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742412	0.15642	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T;T;T	0.42900	2.36;0.96;0.96;2.36	4.55	4.55	0.56014	.	0.164239	0.41500	D	0.000868	T	0.31327	0.0793	L	0.36672	1.1	0.45216	D	0.998222	B;B;B;B	0.12630	0.006;0.006;0.006;0.003	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.10314	-1.0635	10	0.09084	T	0.74	.	15.1677	0.72842	0.0:0.0:1.0:0.0	.	342;342;342;342	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	K	342	ENSP00000416553:E342K;ENSP00000373445:E342K;ENSP00000391852:E342K;ENSP00000314491:E342K	ENSP00000314491:E342K	E	+	1	0	SRRT	100320378	0.999000	0.42202	0.999000	0.59377	0.132000	0.20833	3.012000	0.49575	2.256000	0.74724	0.591000	0.81541	GAG		0.517	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		6	88	0	0	0	1	0	6	88				
ARFGEF1	10565	broad.mit.edu	37	8	68123763	68123763	+	Missense_Mutation	SNP	C	C	G	rs200067038		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68123763C>G	ENST00000262215.3	-	34	5163	c.4774G>C	c.(4774-4776)Gcg>Ccg	p.A1592P	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A430P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1046P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1592					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACAGCAGACGCAGAAACCAGT	0.323																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4774-4776)Gcg>Ccg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							54.0	56.0	55.0					8																	68123763		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123763C>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4774G>C	8.37:g.68123763C>G	ENSP00000262215:p.Ala1592Pro					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1046P|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A430P	p.A1592P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5163	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1592					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4774G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	6.087	0.384348	0.11524	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.46063	2.9;2.08;0.88	5.29	3.49	0.39957	.	0.429333	0.24511	N	0.037900	T	0.22975	0.0555	N	0.11427	0.14	0.09310	N	1	B;B;B	0.22604	0.072;0.0;0.0	B;B;B	0.19666	0.026;0.002;0.002	T	0.15065	-1.0450	10	0.29301	T	0.29	.	10.6559	0.45675	0.149:0.708:0.143:0.0	.	1592;1070;1046	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	P	1046;1592;430	ENSP00000428429:A1046P;ENSP00000262215:A1592P;ENSP00000430891:A430P	ENSP00000262215:A1592P	A	-	1	0	ARFGEF1	68286317	0.991000	0.36638	0.947000	0.38551	0.197000	0.23852	2.371000	0.44248	0.711000	0.32018	0.655000	0.94253	GCG		0.323	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		4	38	0	0	0	1	0	4	38				
RREB1	6239	broad.mit.edu	37	6	7231482	7231482	+	Silent	SNP	G	G	A	rs146203523		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231482G>A	ENST00000349384.6	+	10	3464	c.3150G>A	c.(3148-3150)ccG>ccA	p.P1050P	RREB1_ENST00000334984.6_Silent_p.P1050P|RREB1_ENST00000379938.2_Silent_p.P1050P|RREB1_ENST00000379933.3_Silent_p.P1050P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1050	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAAGCCCCCGCTGCTTTTGC	0.637																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3148-3150)ccG>ccA		ras responsive element binding protein 1		G	,,,	3,4401		0,3,2199	36.0	43.0	40.0		3150,3150,3150,3150	-3.6	0.5	6	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	,,,	1050/1688,1050/1743,1050/1477,1050/1688	7231482	3,13001	2202	4300	6502	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231482G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3150G>A	6.37:g.7231482G>A						RREB1_ENST00000349384.6_Silent_p.P1050P|RREB1_ENST00000379933.3_Silent_p.P1050P|RREB1_ENST00000334984.6_Silent_p.P1050P	p.P1050P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3687	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1050			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3150G>A	CCDS34336.1																																																																																				0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			18	30	0	0	0	1	0	18	30				
MUC16	94025	broad.mit.edu	37	19	9072095	9072095	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9072095A>C	ENST00000397910.4	-	3	15554	c.15351T>G	c.(15349-15351)atT>atG	p.I5117M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5119	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAAGGAAAAATTTCCTTTG	0.453																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15349-15351)atT>atG		mucin 16, cell surface associated							134.0	126.0	128.0					19																	9072095		1931	4136	6067	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072095A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15351T>G	19.37:g.9072095A>C	ENSP00000381008:p.Ile5117Met						p.I5117M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15554	-			5119			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15351T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.227	-0.625320	0.03610	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.56	0.47	0.16747	.	.	.	.	.	T	0.17789	0.0427	N	0.14661	0.345	.	.	.	D	0.62365	0.991	P	0.50231	0.635	T	0.19321	-1.0309	8	0.87932	D	0	.	3.5885	0.07979	0.7758:0.0:0.2242:0.0	.	5117	B5ME49	.	M	5117	ENSP00000381008:I5117M	ENSP00000381008:I5117M	I	-	3	3	MUC16	8933095	0.000000	0.05858	0.001000	0.08648	0.441000	0.31987	0.002000	0.13061	0.092000	0.17331	0.092000	0.15492	ATT		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	77	0	0	0	1	0	11	77				
TET3	200424	broad.mit.edu	37	2	74274917	74274917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274917C>T	ENST00000409262.3	+	1	1468	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	490					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCACCTGTCCGACAGATTGT	0.627																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1468-1470)Cga>Tga		tet methylcytosine dioxygenase 3							25.0	30.0	28.0					2																	74274917		1947	4146	6093	SO:0001587	stop_gained	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274917C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1468C>T	2.37:g.74274917C>T	ENSP00000386869:p.Arg490*						p.R490*	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1468	+			490					A6NEI3|Q86Z24|Q8TBM9	Nonsense_Mutation	SNP	ENST00000409262.3	37	c.1468C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104008	0.37145	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	.	.	.	5.02	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	8.5506	0.33449	0.5599:0.3124:0.1277:0.0	.	.	.	.	X	532;490;490	.	ENSP00000233310:R490X	R	+	1	2	TET3	74128425	0.044000	0.20184	0.571000	0.28486	0.039000	0.13416	-0.024000	0.12435	0.477000	0.27464	0.591000	0.81541	CGA		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			7	8	0	0	0	1	0	7	8				
ARMC4	55130	broad.mit.edu	37	10	28233780	28233780	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28233780T>C	ENST00000305242.5	-	11	1590	c.1498A>G	c.(1498-1500)Ata>Gta	p.I500V	ARMC4_ENST00000545014.1_Missense_Mutation_p.I25V|ARMC4_ENST00000537576.1_Missense_Mutation_p.I192V|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	500					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCAAATTTATCAGCACTTCC	0.478																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1498-1500)Ata>Gta		armadillo repeat containing 4							121.0	112.0	115.0					10																	28233780		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28233780T>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1498A>G	10.37:g.28233780T>C	ENSP00000306410:p.Ile500Val					ARMC4_ENST00000537576.1_Missense_Mutation_p.I192V|ARMC4_ENST00000545014.1_Missense_Mutation_p.I25V|ARMC4_ENST00000480504.1_5'UTR	p.I500V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			11	1590	-			500					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1498A>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648454	0.29336	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014;ENST00000537573	T;T;T	0.44083	0.93;0.93;0.93	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.089072	0.85682	D	0.000000	T	0.35653	0.0939	L	0.43923	1.385	0.80722	D	1	B;P	0.40515	0.052;0.719	B;B	0.37091	0.102;0.241	T	0.10337	-1.0634	10	0.18710	T	0.47	-33.9514	16.3979	0.83621	0.0:0.0:0.0:1.0	.	25;500	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	V	192;500;25;192	ENSP00000443208:I192V;ENSP00000306410:I500V;ENSP00000441076:I25V	ENSP00000306410:I500V	I	-	1	0	ARMC4	28273786	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	5.000000	0.63940	2.333000	0.79357	0.533000	0.62120	ATA		0.478	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		7	50	0	0	0	1	0	7	50				
NEO1	4756	broad.mit.edu	37	15	73541443	73541443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73541443C>T	ENST00000339362.5	+	11	2096	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	NEO1_ENST00000560262.1_Missense_Mutation_p.A550V|NEO1_ENST00000261908.6_Missense_Mutation_p.A550V|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.A550V			Q92859	NEO1_HUMAN	neogenin 1	550	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GCATATGCAGCTTCGCCTACC	0.428																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1648-1650)gCt>gTt		neogenin 1							118.0	112.0	114.0					15																	73541443		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73541443C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1649C>T	15.37:g.73541443C>T	ENSP00000341198:p.Ala550Val					NEO1_ENST00000558964.1_Missense_Mutation_p.A550V|NEO1_ENST00000560262.1_Missense_Mutation_p.A550V|NEO1_ENST00000261908.6_Missense_Mutation_p.A550V|NEO1_ENST00000560352.1_3'UTR	p.A550V			Q92859	NEO1_HUMAN			11	2096	+			550			Fibronectin type-III 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1649C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	0.254	-1.004133	0.02112	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.53423	0.62;0.62	5.43	2.38	0.29361	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.598725	0.19696	N	0.108154	T	0.13670	0.0331	N	0.00670	-1.27	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.16247	-1.0409	10	0.27785	T	0.31	-3.1537	3.4642	0.07544	0.1032:0.4897:0.2272:0.1799	.	550;550;288;550	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	V	550;288;550	ENSP00000341198:A550V;ENSP00000261908:A550V	ENSP00000261908:A550V	A	+	2	0	NEO1	71328496	0.000000	0.05858	0.003000	0.11579	0.204000	0.24138	0.074000	0.14662	0.659000	0.30945	-0.143000	0.13931	GCT		0.428	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		39	66	0	0	0	1	0	39	66				
KIN	22944	broad.mit.edu	37	10	7822111	7822111	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7822111T>C	ENST00000379562.4	-	4	331	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	KIN_ENST00000535925.1_Missense_Mutation_p.Y95C|KIN_ENST00000543003.1_5'UTR	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTATTCGTTGTAGACAATGTT	0.408																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.(283-285)tAc>tGc		KIN, antigenic determinant of recA protein homolog (mouse)							272.0	237.0	249.0					10																	7822111		2203	4300	6503	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7822111T>C	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.284A>G	10.37:g.7822111T>C	ENSP00000368881:p.Tyr95Cys					KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.Y95C	p.Y95C			O60870	KIN17_HUMAN			4	331	-			95						Missense_Mutation	SNP	ENST00000379562.4	37	c.284A>G	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023592	0.75390	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	5.92	4.79	0.61399	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	H	0.96208	3.785	0.80722	D	1	B;B	0.18461	0.028;0.028	B;B	0.26614	0.071;0.071	T	0.76626	-0.2890	9	0.87932	D	0	-21.1453	10.4098	0.44285	0.0:0.0734:0.0:0.9266	.	95;95	B4DX32;O60870	.;KIN17_HUMAN	C	95	.	ENSP00000368881:Y95C	Y	-	2	0	KIN	7862117	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	7.991000	0.88244	1.073000	0.40885	0.533000	0.62120	TAC		0.408	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		5	122	0	0	0	1	0	5	122				
ZNF470	388566	broad.mit.edu	37	19	57089703	57089703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089703C>A	ENST00000330619.8	+	6	2592	c.1906C>A	c.(1906-1908)Ctt>Att	p.L636I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L636I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCGTAAATCCCTTACTCTGCA	0.428																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1906-1908)Ctt>Att		zinc finger protein 470							82.0	79.0	80.0					19																	57089703		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089703C>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1906C>A	19.37:g.57089703C>A	ENSP00000333223:p.Leu636Ile					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L636I	p.L636I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2592	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	636					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1906C>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991962	0.54041	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.53857	0.6;0.6	4.24	3.21	0.36854	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68531	0.3011	M	0.73430	2.235	0.19300	N	0.999976	P	0.50528	0.936	D	0.62955	0.909	T	0.58020	-0.7710	9	0.72032	D	0.01	.	10.8657	0.46853	0.0:0.9055:0.0:0.0945	.	636	Q6ECI4	ZN470_HUMAN	I	636	ENSP00000375590:L636I;ENSP00000333223:L636I	ENSP00000333223:L636I	L	+	1	0	ZNF470	61781515	0.626000	0.27120	0.877000	0.34402	0.852000	0.48524	1.808000	0.38912	1.014000	0.39417	0.561000	0.74099	CTT		0.428	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		4	51	1	0	0.150653	1	0.152692	4	51				
COPS4	51138	broad.mit.edu	37	4	83984281	83984281	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984281G>A	ENST00000264389.2	+	7	903	c.768G>A	c.(766-768)caG>caA	p.Q256Q	COPS4_ENST00000509093.1_Silent_p.Q256Q|COPS4_ENST00000503682.1_Silent_p.Q256Q|COPS4_ENST00000511653.1_Silent_p.Q256Q	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	256	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AAAGGTGCCAGCAACTTGCTG	0.403																																						ENST00000509093.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(766-768)caG>caA		COP9 signalosome subunit 4							90.0	89.0	90.0					4																	83984281		2203	4300	6503	SO:0001819	synonymous_variant	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83984281G>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.768G>A	4.37:g.83984281G>A						COPS4_ENST00000503682.1_Silent_p.Q256Q|COPS4_ENST00000511653.1_Silent_p.Q256Q|COPS4_ENST00000264389.2_Silent_p.Q256Q	p.Q256Q	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN			7	1546	+		Hepatocellular(203;0.114)	256			PCI.		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Silent	SNP	ENST00000264389.2	37	c.768G>A	CCDS3600.1																																																																																				0.403	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			32	54	0	0	0	1	0	32	54				
DAPK1	1612	broad.mit.edu	37	9	90313593	90313593	+	Silent	SNP	C	C	T	rs372000773		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90313593C>T	ENST00000408954.3	+	23	2969	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N	DAPK1_ENST00000469640.2_Silent_p.N878N|DAPK1_ENST00000358077.5_Silent_p.N878N|DAPK1_ENST00000491893.1_Silent_p.N812N|DAPK1_ENST00000472284.1_Silent_p.N878N	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	878					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCTGAAGAACCCACTCCAAG	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2632-2634)aaC>aaT		death-associated protein kinase 1		C		1,4317		0,1,2158	64.0	71.0	69.0		2634	2.2	1.0	9		69	0,8558		0,0,4279	no	coding-synonymous	DAPK1	NM_004938.2		0,1,6437	TT,TC,CC		0.0,0.0232,0.0078		878/1431	90313593	1,12875	2159	4279	6438	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90313593C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2634C>T	9.37:g.90313593C>T						DAPK1_ENST00000358077.5_Silent_p.N878N|DAPK1_ENST00000491893.1_Silent_p.N812N|DAPK1_ENST00000408954.3_Silent_p.N878N|DAPK1_ENST00000472284.1_Silent_p.N878N	p.N878N			P53355	DAPK1_HUMAN			23	3009	+			878					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.2634C>T	CCDS43842.1																																																																																				0.597	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		12	45	0	0	0	1	0	12	45				
SCGB1A1	7356	broad.mit.edu	37	11	62189789	62189789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62189789C>A	ENST00000278282.2	+	2	213	c.152C>A	c.(151-153)cCt>cAt	p.P51H	SCGB1A1_ENST00000534397.1_Missense_Mutation_p.P16H|CTD-2531D15.4_ENST00000528983.1_RNA	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	51					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						CTTTTCAGCCCTGATCAAGAC	0.547																																						ENST00000534397.1																			0				lung(1)	1						c.(46-48)cCt>cAt		secretoglobin, family 1A, member 1 (uteroglobin)							113.0	102.0	105.0					11																	62189789		2202	4299	6501	SO:0001583	missense	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62189789C>A		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.152C>A	11.37:g.62189789C>A	ENSP00000278282:p.Pro51His					CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000278282.2_Missense_Mutation_p.P51H	p.P16H			P11684	UTER_HUMAN			3	238	+			51					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	c.47C>A	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743641	0.49151	.	.	ENSG00000149021	ENST00000534397;ENST00000278282	T;T	0.26518	1.73;1.73	4.86	2.98	0.34508	.	0.000000	0.47852	D	0.000219	T	0.44829	0.1312	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.22347	-1.0219	9	0.72032	D	0.01	-16.8696	7.7324	0.28793	0.0:0.8042:0.0:0.1958	.	51	P11684	UTER_HUMAN	H	16;51	ENSP00000432866:P16H;ENSP00000278282:P51H	ENSP00000278282:P51H	P	+	2	0	SCGB1A1	61946365	0.020000	0.18652	0.011000	0.14972	0.046000	0.14306	0.763000	0.26517	0.581000	0.29539	0.655000	0.94253	CCT		0.547	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		11	66	1	0	2.80697e-09	1	3.39963e-09	11	66				
STPG2	285555	broad.mit.edu	37	4	98865063	98865063	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:98865063C>A	ENST00000295268.3	-	8	1118	c.1029G>T	c.(1027-1029)atG>atT	p.M343I		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	343																	CTGGTACTTTCATAGTTCTTT	0.348																																						ENST00000295268.3																			0											c.(1027-1029)atG>atT		sperm-tail PG-rich repeat containing 2							111.0	108.0	109.0					4																	98865063		2203	4300	6503	SO:0001583	missense	285555							g.chr4:98865063C>A	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1029G>T	4.37:g.98865063C>A	ENSP00000295268:p.Met343Ile						p.M343I	NM_174952.2	NP_777612.1					8	1118	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.1029G>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.922228	0.00498	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.41065	1.01;2.83	3.79	-2.19	0.07015	.	12.589300	0.00706	N	0.000813	T	0.16938	0.0407	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06320	-1.0833	10	0.18710	T	0.47	-28.2193	0.8198	0.01109	0.299:0.1637:0.1096:0.4277	.	343	Q8N412	CD037_HUMAN	I	57;343	ENSP00000428346:M57I;ENSP00000295268:M343I	ENSP00000295268:M343I	M	-	3	0	C4orf37	99084086	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.007000	0.13174	-0.340000	0.08388	-1.507000	0.00952	ATG		0.348	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		27	68	1	0	7.01153e-11	1	8.6781e-11	27	68				
HNRNPCL1	343069	broad.mit.edu	37	1	12907884	12907884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12907884C>T	ENST00000317869.6	-	2	484	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	87	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACTTTTGGCTCTGCAGCCAGG	0.478																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(259-261)Gag>Aag		heterogeneous nuclear ribonucleoprotein C-like 1							128.0	128.0	128.0					1																	12907884		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12907884C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.259G>A	1.37:g.12907884C>T	ENSP00000365370:p.Glu87Lys						p.E87K	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	484	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.259G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.828561	0.32329	.	.	ENSG00000179172	ENST00000317869	T	0.41758	0.99	1.09	-1.28	0.09318	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.173558	0.34291	U	0.004098	T	0.41419	0.1158	M	0.88450	2.955	0.44880	D	0.997892	B	0.19073	0.033	B	0.19946	0.027	T	0.14282	-1.0478	10	0.45353	T	0.12	.	3.9977	0.09566	0.0:0.572:0.2442:0.1838	.	87	O60812	HNRCL_HUMAN	K	87	ENSP00000365370:E87K	ENSP00000365370:E87K	E	-	1	0	HNRNPCL1	12830471	0.980000	0.34600	0.550000	0.28217	0.007000	0.05969	3.368000	0.52357	-0.393000	0.07739	-1.563000	0.00883	GAG		0.478	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		17	150	0	0	0	1	0	17	150				
EPHA5	2044	broad.mit.edu	37	4	66201670	66201670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:66201670C>T	ENST00000273854.3	-	16	3432	c.2832G>A	c.(2830-2832)acG>acA	p.T944T	EPHA5_ENST00000511294.1_Silent_p.T945T|EPHA5_ENST00000354839.4_Silent_p.T922T|EPHA5_ENST00000432638.2_Silent_p.T781T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	944					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTAACCAGCGTCTTCAGAC	0.413										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2830-2832)acG>acA		EPH receptor A5							176.0	160.0	165.0					4																	66201670		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66201670C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2832G>A	4.37:g.66201670C>T		TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Silent_p.T922T|EPHA5_ENST00000511294.1_Silent_p.T945T|EPHA5_ENST00000432638.2_Silent_p.T781T	p.T944T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			16	3432	-			944					Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2832G>A	CCDS3513.1																																																																																				0.413	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		20	49	0	0	0	1	0	20	49				
TSC1	7248	broad.mit.edu	37	9	135776205	135776205	+	Missense_Mutation	SNP	A	A	G	rs397514850		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135776205A>G	ENST00000298552.3	-	20	2743	c.2522T>C	c.(2521-2523)gTc>gCc	p.V841A	TSC1_ENST00000545250.1_Missense_Mutation_p.V790A|TSC1_ENST00000440111.2_Missense_Mutation_p.V841A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	841					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGCTGCTGGACCGACTCACT	0.448			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(2521-2523)gTc>gCc		tuberous sclerosis 1							106.0	97.0	100.0					9																	135776205		2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135776205A>G	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2522T>C	9.37:g.135776205A>G	ENSP00000298552:p.Val841Ala					TSC1_ENST00000440111.2_Missense_Mutation_p.V841A|TSC1_ENST00000545250.1_Missense_Mutation_p.V790A	p.V841A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	20	2743	-			841					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.2522T>C	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108503	0.77096	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82167	-1.58;-1.58;-1.41	5.64	5.64	0.86602	.	0.113907	0.64402	D	0.000011	D	0.82893	0.5136	L	0.60455	1.87	0.80722	D	1	P;P	0.49559	0.925;0.925	P;P	0.47673	0.554;0.477	T	0.80630	-0.1297	10	0.21014	T	0.42	-17.5949	15.0354	0.71741	1.0:0.0:0.0:0.0	.	790;841	B7Z897;Q92574	.;TSC1_HUMAN	A	841;841;790	ENSP00000298552:V841A;ENSP00000394524:V841A;ENSP00000444017:V790A	ENSP00000298552:V841A	V	-	2	0	TSC1	134766026	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.243000	0.51392	2.144000	0.66660	0.460000	0.39030	GTC		0.448	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			31	41	0	0	0	1	0	31	41				
NFATC2	4773	broad.mit.edu	37	20	50071118	50071118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50071118C>T	ENST00000396009.3	-	6	2035	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	NFATC2_ENST00000371564.3_Missense_Mutation_p.E606K|NFATC2_ENST00000610033.1_Missense_Mutation_p.E387K|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000414705.1_Missense_Mutation_p.E586K|NFATC2_ENST00000609507.1_Missense_Mutation_p.E387K|NFATC2_ENST00000609943.1_Missense_Mutation_p.E586K	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	606					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACTTTGGACTCGGATGTAAAG	0.478																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1816-1818)Gag>Aag		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							160.0	162.0	161.0					20																	50071118		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071118C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1816G>A	20.37:g.50071118C>T	ENSP00000379330:p.Glu606Lys					NFATC2_ENST00000414705.1_Missense_Mutation_p.E586K|NFATC2_ENST00000396009.3_Missense_Mutation_p.E606K	p.E606K	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			6	2035	-	Hepatocellular(150;0.248)		606					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1816G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319152	0.81469	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	D;D;D	0.84873	-1.91;-1.91;-1.91	5.9	5.9	0.94986	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.050193	0.85682	D	0.000000	D	0.90978	0.7163	L	0.50333	1.59	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	P;D;D;D	0.76575	0.814;0.988;0.919;0.919	D	0.90870	0.4745	10	0.72032	D	0.01	-27.1308	20.2789	0.98501	0.0:1.0:0.0:0.0	.	586;586;606;606	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	K	606;606;586	ENSP00000360619:E606K;ENSP00000379330:E606K;ENSP00000396471:E586K	ENSP00000360619:E606K	E	-	1	0	NFATC2	49504525	1.000000	0.71417	0.966000	0.40874	0.071000	0.16799	7.362000	0.79507	2.788000	0.95919	0.650000	0.86243	GAG		0.478	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		56	77	0	0	0	1	0	56	77				
OR1L3	26735	broad.mit.edu	37	9	125437648	125437648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437648G>T	ENST00000304820.2	+	1	334	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TAGTCCCAAAGATGCTCGTGA	0.388																																						ENST00000304820.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						c.(238-240)aaG>aaT		olfactory receptor, family 1, subfamily L, member 3							168.0	164.0	165.0					9																	125437648		2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125437648G>T		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.240G>T	9.37:g.125437648G>T	ENSP00000302863:p.Lys80Asn						p.K80N	NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN			1	334	+			80					B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.240G>T	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017910	0.54576	.	.	ENSG00000171481	ENST00000304820	T	0.09350	2.99	4.54	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000769	T	0.19208	0.0461	L	0.54863	1.705	0.22873	N	0.998628	D	0.58620	0.983	P	0.60949	0.881	T	0.05666	-1.0871	10	0.66056	D	0.02	-6.4801	4.1842	0.10390	0.1881:0.0:0.6262:0.1857	.	80	Q8NH93	OR1L3_HUMAN	N	80	ENSP00000302863:K80N	ENSP00000302863:K80N	K	+	3	2	OR1L3	124477469	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	-0.243000	0.08915	1.298000	0.44778	0.644000	0.83932	AAG		0.388	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			7	182	1	0	2.0095e-06	1	2.31757e-06	7	182				
ARID4A	5926	broad.mit.edu	37	14	58831663	58831663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831663C>T	ENST00000355431.3	+	20	3229	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	ARID4A_ENST00000348476.3_Silent_p.I952I|ARID4A_ENST00000431317.2_Silent_p.I952I|ARID4A_ENST00000395168.3_Silent_p.I952I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	952	Retinoblastoma protein binding. {ECO:0000255}.				erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I952I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCCTCTGATCGGGCCTGAAA	0.408																																						ENST00000355431.3																			1	Substitution - coding silent(1)	p.I952I(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2854-2856)atC>atT		AT rich interactive domain 4A (RBP1-like)							107.0	104.0	105.0					14																	58831663		2203	4300	6503	SO:0001819	synonymous_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831663C>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2856C>T	14.37:g.58831663C>T						ARID4A_ENST00000431317.2_Silent_p.I952I|ARID4A_ENST00000348476.3_Silent_p.I952I|ARID4A_ENST00000395168.3_Silent_p.I952I	p.I952I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	3229	+			952			Retinoblastoma protein binding (Potential).		Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	c.2856C>T	CCDS9732.1																																																																																				0.408	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		48	64	0	0	0	1	0	48	64				
ELMSAN1	91748	broad.mit.edu	37	14	74205452	74205452	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74205452G>A	ENST00000286523.5	-	2	2042	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	ELMSAN1_ENST00000394071.2_Silent_p.G420G|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q408fs*65(1)									CTCGCTCCCGGCCATTGGGTG	0.662																																						ENST00000286523.5																			1	Deletion - Frameshift(1)	p.Q408fs*65(1)	kidney(1)								c.(1258-1260)ggC>ggT		ELM2 and Myb/SANT-like domain containing 1							25.0	25.0	25.0					14																	74205452		2203	4299	6502	SO:0001819	synonymous_variant	91748							g.chr14:74205452G>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1260C>T	14.37:g.74205452G>A						ELMSAN1_ENST00000394071.2_Silent_p.G420G	p.G420G	NM_194278.3	NP_919254.2					2	2042	-								Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.1260C>T	CCDS9819.1																																																																																				0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		14	19	0	0	0	1	0	14	19				
ITGB3	3690	broad.mit.edu	37	17	45361952	45361952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45361952C>T	ENST00000559488.1	+	4	521	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R122*|ITGB3_ENST00000571680.1_Nonsense_Mutation_p.R169*|ITGB3_ENST00000560629.1_Missense_Mutation_p.A157V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	169	VWFA.		R -> Q (in alloantigen HPA-4B; dbSNP:rs5917). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:1430225}.		activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CACCCAGATGCGAAAGCTCAC	0.527																																						ENST00000559488.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(505-507)Cga>Tga		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						123.0	120.0	121.0					17																	45361952		2203	4300	6503	SO:0001587	stop_gained	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45361952C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.505C>T	17.37:g.45361952C>T	ENSP00000452786:p.Arg169*					ITGB3_ENST00000571680.1_Nonsense_Mutation_p.R169*|ITGB3_ENST00000560629.1_Missense_Mutation_p.A157V|ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R122*	p.R169*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN			4	521	+			169		R -> Q (in alloantigen HPA-4B; dbSNP:rs5917).	VWFA.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Nonsense_Mutation	SNP	ENST00000559488.1	37	c.505C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288905	0.59976	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	.	.	.	5.86	4.88	0.63580	.	0.286751	0.44483	D	0.000455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7909	0.69841	0.0:0.8548:0.1452:0.0	.	.	.	.	X	169;122	.	ENSP00000262017:R169X	R	+	1	2	C17orf57	42716951	0.998000	0.40836	1.000000	0.80357	0.149000	0.21700	0.903000	0.28475	1.463000	0.47967	-0.176000	0.13171	CGA		0.527	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		40	68	0	0	0	1	0	40	68				
PRKD2	25865	broad.mit.edu	37	19	47193909	47193909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47193909C>T	ENST00000291281.4	-	13	1982	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.R429H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R586H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R586H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R429H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	586	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGTAGGGAAGCGCAGTTTGTC	0.562																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1756-1758)cGc>cAc		protein kinase D2							144.0	119.0	128.0					19																	47193909		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47193909C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1757G>A	19.37:g.47193909C>T	ENSP00000291281:p.Arg586His					PRKD2_ENST00000595515.1_Missense_Mutation_p.R586H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R429H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R429H|PRKD2_ENST00000291281.4_Missense_Mutation_p.R586H	p.R586H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	14	2234	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	586			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1757G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362181	0.95877	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65916	-0.18;-0.18	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073065	0.56097	D	0.000039	T	0.73806	0.3634	L	0.45352	1.415	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.921;0.998	T	0.76282	-0.3016	10	0.72032	D	0.01	-22.9846	17.5028	0.87736	0.0:1.0:0.0:0.0	.	586;586	E7ER94;Q9BZL6	.;KPCD2_HUMAN	H	586	ENSP00000291281:R586H;ENSP00000393978:R586H	ENSP00000291281:R586H	R	-	2	0	PRKD2	51885749	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.688000	0.84153	2.499000	0.84300	0.650000	0.86243	CGC		0.562	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		15	41	0	0	0	1	0	15	41				
ZCWPW1	55063	broad.mit.edu	37	7	100006188	100006188	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100006188G>T	ENST00000398027.2	-	10	1210	c.963C>A	c.(961-963)atC>atA	p.I321I	ZCWPW1_ENST00000490721.1_Silent_p.I201I|ZCWPW1_ENST00000360951.4_Silent_p.I322I|ZCWPW1_ENST00000324725.6_Silent_p.I201I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	321	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTTGGCCCAGATGATGGATC	0.512																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(961-963)atC>atA		zinc finger, CW type with PWWP domain 1							157.0	152.0	153.0					7																	100006188		2003	4176	6179	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:100006188G>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.963C>A	7.37:g.100006188G>T						ZCWPW1_ENST00000490721.1_Silent_p.I201I|ZCWPW1_ENST00000360951.4_Silent_p.I322I|ZCWPW1_ENST00000324725.6_Silent_p.I201I	p.I321I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			10	1210	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		321			PWWP.		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.963C>A	CCDS43623.1																																																																																				0.512	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		68	59	1	0	1.88737e-50	1	2.55231e-50	68	59				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472960	22472960	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22472960G>T	ENST00000557788.2	-	0	310							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											GGCGGTCACAGAGCTCAGCTT	0.567																																						ENST00000557788.2																			0																																																			0							g.chr15:22472960G>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22472960G>T														0	310	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.567	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			60	19	1	0	8.21609e-47	1	1.11026e-46	60	19				
ZNF662	389114	broad.mit.edu	37	3	42956680	42956680	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956680A>C	ENST00000541208.1	+	5	1484	c.1115A>C	c.(1114-1116)aAg>aCg	p.K372T	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K398T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K372T|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTTTTGCAAGGCACATCTT	0.443																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1114-1116)aAg>aCg		zinc finger protein 662							90.0	89.0	89.0					3																	42956680		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956680A>C	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1115A>C	3.37:g.42956680A>C	ENSP00000446208:p.Lys372Thr					ZNF662_ENST00000440367.2_Missense_Mutation_p.K372T|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K398T|KRBOX1_ENST00000426937.1_Intron	p.K372T			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1484	+			372					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1115A>C	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	7.469	0.646184	0.14451	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.16743	2.32;2.32;2.32	3.27	2.13	0.27403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23965	0.0580	M	0.73753	2.245	0.09310	N	1	P;P	0.50819	0.939;0.9	P;B	0.48425	0.577;0.373	T	0.09015	-1.0694	9	0.31617	T	0.26	.	6.3655	0.21453	0.872:0.0:0.128:0.0	.	398;372	F8W7S8;Q6ZS27	.;ZN662_HUMAN	T	372;398;372	ENSP00000405047:K372T;ENSP00000329264:K398T;ENSP00000446208:K372T	ENSP00000329264:K398T	K	+	2	0	ZNF662	42931684	0.000000	0.05858	0.997000	0.53966	0.984000	0.73092	-0.880000	0.04183	1.512000	0.48834	0.528000	0.53228	AAG		0.443	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		8	53	0	0	0	1	0	8	53				
PTGER3	5733	broad.mit.edu	37	1	71512552	71512552	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512552G>T	ENST00000306666.5	-	1	919	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	PTGER3_ENST00000370931.3_Missense_Mutation_p.L237M|PTGER3_ENST00000370924.4_Missense_Mutation_p.L237M|PTGER3_ENST00000460330.1_Missense_Mutation_p.L237M|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000356595.4_Missense_Mutation_p.L237M|PTGER3_ENST00000351052.5_Missense_Mutation_p.L237M|PTGER3_ENST00000414819.1_Missense_Mutation_p.L237M|PTGER3_ENST00000370932.2_Missense_Mutation_p.L237M|PTGER3_ENST00000354608.5_Missense_Mutation_p.L237M	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	237					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AAGAGCCCCAGGAAGGCAAAG	0.632																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(709-711)Ctg>Atg		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						101.0	99.0	100.0					1																	71512552		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512552G>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.709C>A	1.37:g.71512552G>T	ENSP00000302313:p.Leu237Met					PTGER3_ENST00000354608.5_Missense_Mutation_p.L237M|PTGER3_ENST00000356595.4_Missense_Mutation_p.L237M|PTGER3_ENST00000370932.2_Missense_Mutation_p.L237M|PTGER3_ENST00000306666.5_Missense_Mutation_p.L237M|PTGER3_ENST00000351052.5_Missense_Mutation_p.L237M|PTGER3_ENST00000414819.1_Missense_Mutation_p.L237M|PTGER3_ENST00000370931.3_Missense_Mutation_p.L237M|PTGER3_ENST00000460330.1_Missense_Mutation_p.L237M	p.L237M	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	939	-			237					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.709C>A	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628974	0.67015	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.1	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.75615	2.305	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.58008	-0.7712	10	0.66056	D	0.02	-21.2523	10.7364	0.46128	0.2114:0.0:0.7886:0.0	.	237;237;237;237;237;237;237;237	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	M	237	ENSP00000359969:L237M;ENSP00000359970:L237M;ENSP00000280208:L237M;ENSP00000418073:L237M;ENSP00000346624:L237M;ENSP00000349003:L237M;ENSP00000401423:L237M;ENSP00000302313:L237M;ENSP00000359962:L237M	ENSP00000302313:L237M	L	-	1	2	PTGER3	71285140	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.053000	0.41326	1.341000	0.45600	0.462000	0.41574	CTG		0.632	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		4	72	1	0	0.184627	1	0.186383	4	72				
FAM160B1	57700	broad.mit.edu	37	10	116590682	116590682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116590682G>A	ENST00000369248.4	+	2	452	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FAM160B1_ENST00000369250.3_Silent_p.E39E|FAM160B1_ENST00000369246.1_Silent_p.E39E	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	39				E -> G (in Ref. 1; CAI45992). {ECO:0000305}.				p.E39D(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTACATAGAGACTTCAGGTA	0.308																																						ENST00000369248.4																			2	Substitution - Missense(2)	p.E39D(2)	large_intestine(2)	NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(115-117)gaG>gaA		family with sequence similarity 160, member B1							128.0	120.0	123.0					10																	116590682		2203	4297	6500	SO:0001819	synonymous_variant	57700							g.chr10:116590682G>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.117G>A	10.37:g.116590682G>A						FAM160B1_ENST00000369250.3_Silent_p.E39E|FAM160B1_ENST00000369246.1_Silent_p.E39E	p.E39E	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			2	452	+			39	E -> G (in Ref. 1; CAI45992).				Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.117G>A	CCDS31290.1																																																																																				0.308	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		23	57	0	0	0	1	0	23	57				
MFN2	9927	broad.mit.edu	37	1	12056244	12056244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12056244G>A	ENST00000235329.5	+	5	665	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MFN2_ENST00000444836.1_Missense_Mutation_p.A115T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	115	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CGTGATCAATGCCATGCTCTG	0.517																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(343-345)Gcc>Acc		mitofusin 2							155.0	129.0	138.0					1																	12056244		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12056244G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.343G>A	1.37:g.12056244G>A	ENSP00000235329:p.Ala115Thr					MFN2_ENST00000444836.1_Missense_Mutation_p.A115T	p.A115T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	5	665	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	115					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.343G>A	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625179	0.96671	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.97710	-4.5;-4.5	5.63	5.63	0.86233	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99624	1.0984	10	0.72032	D	0.01	-26.2562	19.0418	0.93002	0.0:0.0:1.0:0.0	.	115	O95140	MFN2_HUMAN	T	115	ENSP00000416338:A115T;ENSP00000235329:A115T	ENSP00000235329:A115T	A	+	1	0	MFN2	11978831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.808000	0.96608	0.655000	0.94253	GCC		0.517	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		24	30	0	0	0	1	0	24	30				
RAPGEF6	51735	broad.mit.edu	37	5	130815437	130815437	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815437T>C	ENST00000509018.1	-	16	2055	c.1850A>G	c.(1849-1851)gAg>gGg	p.E617G	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E617G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E617G|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E667G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E617G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E332G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	617					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAAGTAACTCTTTGAACAC	0.328																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1849-1851)gAg>gGg		Rap guanine nucleotide exchange factor (GEF) 6							92.0	88.0	90.0					5																	130815437		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815437T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1850A>G	5.37:g.130815437T>C	ENSP00000421684:p.Glu617Gly					RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E617G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E617G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E332G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E617G|FNIP1_ENST00000514667.1_Missense_Mutation_p.E667G	p.E617G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2055	-			617					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1850A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836008	0.91117	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.33654	1.57;1.48;1.49;1.57;1.42;1.4;1.93;1.67	5.81	5.81	0.92471	PDZ/DHR/GLGF (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.70275	2.135	0.80722	D	1	D;D;P;P;D;D;P	0.89917	1.0;1.0;0.815;0.719;1.0;0.966;0.93	D;D;P;B;D;D;P	0.91635	0.997;0.996;0.859;0.443;0.999;0.936;0.817	T	0.62637	-0.6812	10	0.56958	D	0.05	.	16.1773	0.81862	0.0:0.0:0.0:1.0	.	617;617;617;332;667;617;617	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	G	617;617;617;617;617;332;617;617;667	ENSP00000421684:E617G;ENSP00000309298:E617G;ENSP00000426081:E617G;ENSP00000296859:E617G;ENSP00000426910:E332G;ENSP00000311419:E617G;ENSP00000425389:E617G;ENSP00000426948:E667G	ENSP00000426948:E667G	E	-	2	0	RAPGEF6;FNIP1	130843336	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.499000	0.81566	2.217000	0.71921	0.482000	0.46254	GAG		0.328	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		8	69	0	0	0	1	0	8	69				
IGHV3-49	28423	broad.mit.edu	37	14	107012998	107012998	+	RNA	SNP	G	G	A	rs113334719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107012998G>A	ENST00000390625.2	-	0	376									immunoglobulin heavy variable 3-49																		GCAGATAGGCGATGCTTTTGG	0.478																																						ENST00000390625.2																			0																				147.0	143.0	144.0					14																	107012998		1968	4150	6118			0							g.chr14:107012998G>A	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107012998G>A														0	376	-									RNA	SNP	ENST00000390625.2	37																																																																																						0.478	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		39	91	0	0	0	1	0	39	91				
C1orf162	128346	broad.mit.edu	37	1	112020051	112020051	+	Splice_Site	SNP	G	G	A	rs375173716		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112020051G>A	ENST00000343534.5	+	4	452		c.e4+1		C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Splice_Site	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162							integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TACAGAAAATGTAAGTGGTCT	0.448																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.e4+1		chromosome 1 open reading frame 162		G		1,4405	2.1+/-5.4	0,1,2202	101.0	92.0	95.0			4.9	1.0	1		95	0,8600		0,0,4300	no	splice-5	C1orf162	NM_174896.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			112020051	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	128346					integral to membrane		g.chr1:112020051G>A	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.202+1G>A	1.37:g.112020051G>A						C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Splice_Site		NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	4	452	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)						Q5QNZ1	Splice_Site	SNP	ENST00000343534.5	37		CCDS837.1	.	.	.	.	.	.	.	.	.	.	G	8.917	0.960216	0.18507	2.27E-4	0.0	ENSG00000143110	ENST00000343534;ENST00000369718	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4894	0.61386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf162	111821574	1.000000	0.71417	0.996000	0.52242	0.013000	0.08279	4.235000	0.58666	2.568000	0.86640	0.557000	0.71058	.		0.448	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896	Intron	25	35	0	0	0	1	0	25	35				
SMTNL2	342527	broad.mit.edu	37	17	4498602	4498602	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4498602G>T	ENST00000389313.4	+	5	1036	c.969G>T	c.(967-969)gaG>gaT	p.E323D	SMTNL2_ENST00000338859.4_Missense_Mutation_p.E179D	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	323										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGAAGTGGGAGCAGGAAACGG	0.692																																						ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(967-969)gaG>gaT		smoothelin-like 2							25.0	31.0	29.0					17																	4498602		2203	4296	6499	SO:0001583	missense	342527							g.chr17:4498602G>T	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.969G>T	17.37:g.4498602G>T	ENSP00000373964:p.Glu323Asp					SMTNL2_ENST00000338859.4_Missense_Mutation_p.E179D	p.E323D	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	5	1036	+			323					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.969G>T	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970268	0.53614	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82255	-1.59;-1.57	4.68	1.46	0.22682	.	.	.	.	.	T	0.62563	0.2438	N	0.08118	0	0.36568	D	0.872806	B	0.33448	0.412	B	0.27262	0.078	T	0.60786	-0.7194	9	0.35671	T	0.21	-30.3336	9.3692	0.38244	0.2671:0.0:0.7329:0.0	.	323	Q2TAL5	SMTL2_HUMAN	D	179;323	ENSP00000345143:E179D;ENSP00000373964:E323D	ENSP00000345143:E179D	E	+	3	2	SMTNL2	4445351	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	0.811000	0.27198	0.496000	0.27904	0.561000	0.74099	GAG		0.692	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		4	19	1	0	0.014758	1	0.0152625	4	19				
MRPL39	54148	broad.mit.edu	37	21	26972178	26972178	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26972178A>G	ENST00000352957.4	-	5	562	c.521T>C	c.(520-522)gTa>gCa	p.V174A	MRPL39_ENST00000307301.7_Splice_Site_p.V174A	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	174						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAAATTACTGTAAATCC	0.333																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.e5-1		mitochondrial ribosomal protein L39							89.0	88.0	88.0					21																	26972178		2203	4300	6503	SO:0001630	splice_region_variant	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26972178A>G	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.521-1T>C	21.37:g.26972178A>G						MRPL39_ENST00000352957.4_Splice_Site_p.V174_splice	p.V174_splice	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			5	562	-			174					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Splice_Site	SNP	ENST00000352957.4	37	c.520_splice	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920048	0.73098	.	.	ENSG00000154719	ENST00000352957;ENST00000307301	T;T	0.46451	0.87;0.87	5.2	5.2	0.72013	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.79693	2.465	0.58432	D	0.999998	P;D	0.69078	0.911;0.997	P;D	0.69824	0.674;0.966	T	0.61178	-0.7115	10	0.17832	T	0.49	.	13.427	0.61030	1.0:0.0:0.0:0.0	.	174;174	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	A	174	ENSP00000284967:V174A;ENSP00000305682:V174A	ENSP00000305682:V174A	V	-	2	0	MRPL39	25894049	1.000000	0.71417	0.908000	0.35775	0.850000	0.48378	5.683000	0.68189	2.182000	0.69389	0.482000	0.46254	GTA		0.333	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446	Missense_Mutation	19	40	0	0	0	1	0	19	40				
GALNT7	51809	broad.mit.edu	37	4	174235157	174235157	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:174235157T>C	ENST00000265000.4	+	9	1521	c.1438T>C	c.(1438-1440)Ttc>Ctc	p.F480L		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	480					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TAAAGACTACTTCTATGCTAG	0.318																																						ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1438-1440)Ttc>Ctc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							85.0	84.0	84.0					4																	174235157		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174235157T>C	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1438T>C	4.37:g.174235157T>C	ENSP00000265000:p.Phe480Leu						p.F480L	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1521	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	480					B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1438T>C	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.794430|4.794430	0.90453|0.90453	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|.	0.70045|.	-0.45|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69305|0.69305	0.3096|0.3096	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.62813|.	0.907|.	T|T	0.67448|0.67448	-0.5668|-0.5668	10|5	0.37606|.	T|.	0.19|.	.|.	15.7776|15.7776	0.78236|0.78236	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	480|.	Q86SF2|.	GALT7_HUMAN|.	L|P	480|50	ENSP00000265000:F480L|.	ENSP00000265000:F480L|.	F|L	+|+	1|2	0|0	GALNT7|GALNT7	174471732|174471732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	8.040000|8.040000	0.89188|0.89188	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.318	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		3	67	0	0	0	1	0	3	67				
MAP3K1	4214	broad.mit.edu	37	5	56181881	56181881	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56181881G>T	ENST00000399503.3	+	17	4105	c.4105G>T	c.(4105-4107)Gat>Tat	p.D1369Y		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1369	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.D1369H(1)|p.D1206H(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATTCACAGAGATGTCAAAGG	0.363																																						ENST00000399503.3																			2	Substitution - Missense(2)	p.D1369H(1)|p.D1206H(1)	endometrium(2)	NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4105-4107)Gat>Tat		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							87.0	79.0	81.0					5																	56181881		1827	4073	5900	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181881G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4105G>T	5.37:g.56181881G>T	ENSP00000382423:p.Asp1369Tyr						p.D1369Y	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	17	4105	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1369			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4105G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349422	0.82132	.	.	ENSG00000095015	ENST00000399503	D	0.93076	-3.16	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99320	1.0906	10	0.87932	D	0	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	1369	Q13233	M3K1_HUMAN	Y	1369	ENSP00000382423:D1369Y	ENSP00000382423:D1369Y	D	+	1	0	MAP3K1	56217638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.158000	0.89649	2.719000	0.93026	0.655000	0.94253	GAT		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		4	78	1	0	0.00024832	1	0.0002712	4	78				
PPIP5K2	23262	broad.mit.edu	37	5	102522049	102522049	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102522049C>A	ENST00000358359.3	+	27	3707	c.3198C>A	c.(3196-3198)acC>acA	p.T1066T	PPIP5K2_ENST00000414217.1_Silent_p.T1066T|PPIP5K2_ENST00000321521.9_Silent_p.T1066T|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1066					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTTAGCACCTCGGTGCTCG	0.493																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3196-3198)acC>acA		diphosphoinositol pentakisphosphate kinase 2							120.0	108.0	112.0					5																	102522049		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102522049C>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3198C>A	5.37:g.102522049C>A						PPIP5K2_ENST00000358359.3_Silent_p.T1066T|PPIP5K2_ENST00000414217.1_Silent_p.T1066T|PPIP5K2_ENST00000513500.1_3'UTR	p.T1066T			O43314	VIP2_HUMAN			27	3771	+			1066					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.3198C>A																																																																																					0.493	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		22	14	1	0	3.62473e-10	1	4.44982e-10	22	14				
NPSR1	387129	broad.mit.edu	37	7	34888157	34888157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34888157C>T	ENST00000360581.1	+	8	1035	c.907C>T	c.(907-909)Cca>Tca	p.P303S	NPSR1_ENST00000531252.1_Missense_Mutation_p.P292S|NPSR1_ENST00000381539.3_Missense_Mutation_p.P303S|NPSR1_ENST00000359791.1_Missense_Mutation_p.P303S|NPSR1_ENST00000381542.1_Missense_Mutation_p.P237S	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	303						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAACCTCCTTCCAGACACCCA	0.493																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(907-909)Cca>Tca		neuropeptide S receptor 1	Halothane(DB01159)						238.0	232.0	234.0					7																	34888157		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888157C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.907C>T	7.37:g.34888157C>T	ENSP00000353788:p.Pro303Ser					NPSR1_ENST00000381542.1_Missense_Mutation_p.P237S|NPSR1_ENST00000531252.1_Missense_Mutation_p.P292S|NPSR1_ENST00000381539.3_Missense_Mutation_p.P303S|NPSR1_ENST00000359791.1_Missense_Mutation_p.P303S	p.P303S	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			8	1035	+			303					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.907C>T	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213820	0.58452	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.78136	0.4236	L	0.43923	1.385	0.53688	D	0.999971	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	0.91635	0.999;0.999;0.998;0.998;0.998;0.999	T	0.71144	-0.4678	10	0.14656	T	0.56	-10.744	17.9508	0.89052	0.0:1.0:0.0:0.0	.	237;292;237;303;303;303	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	S	303;237;303;292;303;106	ENSP00000353788:P303S;ENSP00000370953:P237S;ENSP00000352839:P303S;ENSP00000433258:P292S;ENSP00000370950:P303S	ENSP00000334093:P106S	P	+	1	0	NPSR1	34854682	0.999000	0.42202	0.998000	0.56505	0.561000	0.35649	3.651000	0.54431	2.713000	0.92767	0.655000	0.94253	CCA		0.493	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		101	253	0	0	0	1	0	101	253				
GATA6	2627	broad.mit.edu	37	18	19751405	19751405	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19751405G>A	ENST00000269216.3	+	2	577	c.300G>A	c.(298-300)gcG>gcA	p.A100A	GATA6_ENST00000581694.1_Silent_p.A100A|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	100					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CTGGGGTCGCGGGCCCCGGGG	0.731																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(298-300)gcG>gcA		GATA binding protein 6							5.0	9.0	8.0					18																	19751405		1874	3956	5830	SO:0001819	synonymous_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751405G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.300G>A	18.37:g.19751405G>A						GATA6_ENST00000581694.1_Silent_p.A100A	p.A100A	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	577	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		100					B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.300G>A	CCDS11872.1																																																																																				0.731	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		6	8	0	0	0	1	0	6	8				
HYDIN	54768	broad.mit.edu	37	16	71025246	71025246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71025246G>A	ENST00000393567.2	-	25	3989	c.3839C>T	c.(3838-3840)aCg>aTg	p.T1280M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.T1280K(1)|p.T1232K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCTTTCGTTTTTCTTAG	0.463																																						ENST00000393567.2																			2	Substitution - Missense(2)	p.T1280K(1)|p.T1232K(1)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3838-3840)aCg>aTg		HYDIN, axonemal central pair apparatus protein							126.0	116.0	119.0					16																	71025246		1905	4143	6048	SO:0001583	missense	54768							g.chr16:71025246G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3839C>T	16.37:g.71025246G>A	ENSP00000377197:p.Thr1280Met						p.T1280M	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			25	3989	-		Ovarian(137;0.0654)	1280					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3839C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843296	0.16963	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	3.78	-1.77	0.07982	.	605.235000	0.01291	N	0.010023	T	0.00784	0.0026	N	0.14661	0.345	0.09310	N	0.999999	B	0.19583	0.037	B	0.09377	0.004	T	0.47420	-0.9119	10	0.46703	T	0.11	.	3.4852	0.07617	0.4061:0.0:0.419:0.175	.	1280	F8WD23	.	M	1280	ENSP00000377197:T1280M	ENSP00000313052:T1280M	T	-	2	0	HYDIN	69582747	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.546000	0.02188	-0.281000	0.09141	-1.407000	0.01130	ACG		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			29	42	0	0	0	1	0	29	42				
COBLL1	22837	broad.mit.edu	37	2	165561493	165561493	+	Silent	SNP	C	C	T	rs138711091		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165561493C>T	ENST00000392717.2	-	8	1237	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	COBLL1_ENST00000194871.6_Silent_p.P439P|COBLL1_ENST00000409184.3_Silent_p.P411P|COBLL1_ENST00000342193.4_Silent_p.P373P|COBLL1_ENST00000375458.2_Silent_p.P373P|COBLL1_ENST00000491126.2_5'UTR			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	411						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CACTTTGATGCGGGGGTATTT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.0		0.0	False		,,,				2504	0.001					ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(1117-1119)ccG>ccA		cordon-bleu WH2 repeat protein-like 1		C		0,4406		0,0,2203	176.0	171.0	172.0		1119	2.5	0.0	2	dbSNP_134	172	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	COBLL1	NM_014900.3		0,14,6489	TT,TC,CC		0.1628,0.0,0.1076		373/1167	165561493	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165561493C>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1233G>A	2.37:g.165561493C>T						COBLL1_ENST00000194871.6_Silent_p.P439P|COBLL1_ENST00000409184.3_Silent_p.P411P|COBLL1_ENST00000342193.4_Silent_p.P373P|COBLL1_ENST00000392717.2_Silent_p.P411P|COBLL1_ENST00000491126.2_5'UTR	p.P373P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			7	1340	-			411					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.1119G>A																																																																																					0.423	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		79	145	0	0	0	1	0	79	145				
HMCN1	83872	broad.mit.edu	37	1	186147631	186147631	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186147631C>A	ENST00000271588.4	+	104	16256	c.16027C>A	c.(16027-16029)Cca>Aca	p.P5343T	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5343	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATCTGTCCACCAGGACAACA	0.478																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16027-16029)Cca>Aca		hemicentin 1							127.0	129.0	129.0					1																	186147631		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186147631C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16027C>A	1.37:g.186147631C>A	ENSP00000271588:p.Pro5343Thr					HMCN1_ENST00000367492.2_Intron	p.P5343T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			104	16256	+			5343			EGF-like 6; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16027C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928171	0.73327	.	.	ENSG00000143341	ENST00000271588	D	0.92099	-2.97	5.77	5.77	0.91146	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	M	0.62016	1.91	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	D	0.92423	0.5947	10	0.25106	T	0.35	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	5343	Q96RW7	HMCN1_HUMAN	T	5343	ENSP00000271588:P5343T	ENSP00000271588:P5343T	P	+	1	0	HMCN1	184414254	1.000000	0.71417	0.992000	0.48379	0.809000	0.45718	5.998000	0.70653	2.885000	0.99019	0.655000	0.94253	CCA		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		24	189	1	0	9.57634e-11	1	1.18454e-10	24	189				
FOXN4	121643	broad.mit.edu	37	12	109719221	109719221	+	Missense_Mutation	SNP	C	C	T	rs200750509		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719221C>T	ENST00000299162.5	-	9	1389	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A249T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	429					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						CCCTGCAGAGCGAAGTCCATG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16278	0.001		0.0	False		,,,				2504	0.0					ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1285-1287)Gct>Act		forkhead box N4							71.0	70.0	70.0					12																	109719221		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719221C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1285G>A	12.37:g.109719221C>T	ENSP00000299162:p.Ala429Thr					FOXN4_ENST00000355216.1_Missense_Mutation_p.A249T	p.A429T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			9	1389	-			429					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1285G>A	CCDS9126.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.2	4.902112	0.92035	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95171	-3.63;-3.26	5.3	5.3	0.74995	.	0.123358	0.53938	D	0.000045	D	0.96787	0.8951	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.956;0.961	D	0.96634	0.9469	10	0.52906	T	0.07	-14.8466	18.3313	0.90270	0.0:1.0:0.0:0.0	.	429;429	A6H901;Q96NZ1	.;FOXN4_HUMAN	T	249;429	ENSP00000347354:A249T;ENSP00000299162:A429T	ENSP00000299162:A429T	A	-	1	0	FOXN4	108203604	1.000000	0.71417	0.991000	0.47740	0.862000	0.49288	4.529000	0.60588	2.644000	0.89710	0.561000	0.74099	GCT		0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		17	34	0	0	0	1	0	17	34				
SZT2	23334	broad.mit.edu	37	1	43895487	43895487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43895487C>T	ENST00000562955.1	+	28	4109	c.4109C>T	c.(4108-4110)gCc>gTc	p.A1370V	SZT2_ENST00000372442.1_Missense_Mutation_p.A528V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1427					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAGGAGAGGCCCATGGTGCC	0.582																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4108-4110)gCc>gTc		seizure threshold 2 homolog (mouse)							79.0	73.0	75.0					1																	43895487		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43895487C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4109C>T	1.37:g.43895487C>T	ENSP00000457168:p.Ala1370Val					SZT2_ENST00000372442.1_Missense_Mutation_p.A528V	p.A1370V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			28	4109	+			1427					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4109C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365771	0.41902	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.7	3.69	0.42338	.	0.191356	0.45606	D	0.000354	T	0.10852	0.0265	N	0.01048	-1.04	0.20764	N	0.999859	B	0.14438	0.01	B	0.13407	0.009	T	0.27872	-1.0061	9	0.10902	T	0.67	.	9.2806	0.37727	0.0:0.6823:0.2389:0.0788	.	1370	Q5T011-5	.	V	528	.	ENSP00000361519:A528V	A	+	2	0	SZT2	43668074	0.224000	0.23674	0.967000	0.41034	0.976000	0.68499	0.445000	0.21677	2.688000	0.91661	0.655000	0.94253	GCC		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		23	31	0	0	0	1	0	23	31				
PREX2	80243	broad.mit.edu	37	8	68939479	68939479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68939479G>A	ENST00000288368.4	+	5	741	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	155	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R155Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTGGAGGACGGAAGAACACA	0.358																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.R155Q(2)	large_intestine(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(463-465)cGg>cAg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							137.0	130.0	133.0					8																	68939479		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68939479G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.464G>A	8.37:g.68939479G>A	ENSP00000288368:p.Arg155Gln					PREX2_ENST00000529398.1_3'UTR	p.R155Q	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			5	741	+			155			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.464G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014880	0.93404	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.63096	-0.02	5.66	5.66	0.87406	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	L	0.45051	1.395	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.989	D;P;P	0.68943	0.961;0.906;0.895	T	0.67364	-0.5689	10	0.30078	T	0.28	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	155;155;155	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	155	ENSP00000288368:R155Q	ENSP00000288368:R155Q	R	+	2	0	PREX2	69102033	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.277000	0.95755	2.832000	0.97577	0.655000	0.94253	CGG		0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		29	52	0	0	0	1	0	29	52				
KEL	3792	broad.mit.edu	37	7	142655508	142655508	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142655508C>A	ENST00000355265.2	-	5	882	c.408G>T	c.(406-408)caG>caT	p.Q136H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	136					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCAGGAATTCTGGACCTCTA	0.502																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(406-408)caG>caT		Kell blood group, metallo-endopeptidase							51.0	49.0	49.0					7																	142655508		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655508C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.408G>T	7.37:g.142655508C>A	ENSP00000347409:p.Gln136His					KEL_ENST00000479768.2_5'UTR	p.Q136H	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			5	882	-	Melanoma(164;0.059)		136					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.408G>T	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.223|6.223	0.409360|0.409360	0.11812|0.11812	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|T;T;T	.|0.73575	.|-0.76;-0.76;-0.76	5.6|5.6	1.62|1.62	0.23740|0.23740	.|Peptidase M13 (1);	.|0.393563	.|0.21569	.|N	.|0.072430	.|T	.|0.49406	.|0.1555	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.15141	.|0.012	.|B	.|0.14023	.|0.01	.|T	.|0.42949	.|-0.9421	.|10	.|0.72032	.|D	.|0.01	-3.1481|-3.1481	4.5781|4.5781	0.12243|0.12243	0.0:0.1121:0.3895:0.4984|0.0:0.1121:0.3895:0.4984	.|.	.|136	.|P23276	.|KELL_HUMAN	X|H	147|136;136;117	.|ENSP00000347409:Q136H;ENSP00000419889:Q136H;ENSP00000420011:Q117H	.|ENSP00000347409:Q136H	E|Q	-|-	1|3	0|2	KEL|KEL	142365630|142365630	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.012000|0.012000	0.07955|0.07955	-0.988000|-0.988000	0.03739|0.03739	0.375000|0.375000	0.24679|0.24679	0.585000|0.585000	0.79938|0.79938	GAA|CAG		0.502	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		5	69	1	0	0.000602214	1	0.000649039	5	69				
GNAO1	2775	broad.mit.edu	37	16	56388803	56388803	+	Silent	SNP	C	C	T	rs543764725		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56388803C>T	ENST00000262493.6	+	8	1749	c.903C>T	c.(901-903)gcC>gcT	p.A301A	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	301					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AAGACGCAGCCGCCTACATCC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13927	0.0		0.0	False		,,,				2504	0.0					ENST00000262493.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(901-903)gcC>gcT		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							80.0	72.0	75.0					16																	56388803		2198	4300	6498	SO:0001819	synonymous_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56388803C>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.903C>T	16.37:g.56388803C>T							p.A301A	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN			8	1749	+		all_neural(199;0.159)	301					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.903C>T	CCDS10756.1																																																																																				0.507	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		13	33	0	0	0	1	0	13	33				
CUX1	1523	broad.mit.edu	37	7	101891755	101891755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101891755C>T	ENST00000292535.7	+	24	3989	c.3951C>T	c.(3949-3951)ggC>ggT	p.G1317G	CUX1_ENST00000550008.2_Silent_p.G1261G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G1159G|CUX1_ENST00000546411.2_Silent_p.G1215G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.G1328G|CUX1_ENST00000549414.2_Silent_p.G1295G|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1317					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGGCGGGCGCCAGCGACT	0.711																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3982-3984)ggC>ggT		cut-like homeobox 1							9.0	10.0	10.0					7																	101891755		2144	4162	6306	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101891755C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3951C>T	7.37:g.101891755C>T						CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.G1215G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G1159G|CUX1_ENST00000550008.2_Silent_p.G1261G|CUX1_ENST00000549414.2_Silent_p.G1295G|CUX1_ENST00000292535.7_Silent_p.G1317G|CUX1_ENST00000393824.3_Intron	p.G1328G	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			24	4004	+			1317					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.3984C>T	CCDS5721.1																																																																																				0.711	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	7	0	0	0	1	0	5	7				
SWT1	54823	broad.mit.edu	37	1	185183647	185183647	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185183647G>A	ENST00000367500.4	+	14	2146	c.1981G>A	c.(1981-1983)Gca>Aca	p.A661T	SWT1_ENST00000367501.3_Missense_Mutation_p.A661T	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	661										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGCTAATAAGGCAGTGGATTT	0.303																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1981-1983)Gca>Aca		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							78.0	81.0	80.0					1																	185183647		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185183647G>A	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1981G>A	1.37:g.185183647G>A	ENSP00000356470:p.Ala661Thr					SWT1_ENST00000367501.3_Missense_Mutation_p.A661T	p.A661T	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			14	2146	+			661					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1981G>A	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	7.572	0.666862	0.14710	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.16457	2.34;2.34	4.97	-1.91	0.07641	.	0.627142	0.16211	N	0.224497	T	0.08088	0.0202	L	0.28400	0.85	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.37126	-0.9719	10	0.12766	T	0.61	.	3.9922	0.09541	0.3918:0.0:0.3505:0.2576	.	661	Q5T5J6	SWT1_HUMAN	T	661	ENSP00000356471:A661T;ENSP00000356470:A661T	ENSP00000356470:A661T	A	+	1	0	SWT1	183450270	0.002000	0.14202	0.001000	0.08648	0.577000	0.36160	-0.153000	0.10144	-0.192000	0.10432	-0.345000	0.07892	GCA		0.303	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		25	75	0	0	0	1	0	25	75				
ALS2CR12	130540	broad.mit.edu	37	2	202172323	202172323	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202172323G>A	ENST00000286190.5	-	10	844	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000448967.1_5'Flank|ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000405148.2_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383																																						ENST00000405148.2																			1	Substitution - coding silent(1)	p.F266F(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(796-798)ttC>ttT		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12							156.0	159.0	158.0					2																	202172323		2203	4298	6501	SO:0001819	synonymous_variant	130540				regulation of GTPase activity		protein binding	g.chr2:202172323G>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.798C>T	2.37:g.202172323G>A						ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			11	1241	-			266					G5E9S3|Q53TT6|Q8N1B6	Silent	SNP	ENST00000286190.5	37	c.798C>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	0.508	-0.867740	0.02590	.	.	ENSG00000155749	ENST00000415745	.	.	.	5.53	-0.054	0.13816	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35919	-0.9769	4	.	.	.	-8.4115	5.6157	0.17430	0.6368:0.1427:0.2205:0.0	.	.	.	.	L	41	.	.	S	-	2	0	ALS2CR12	201880568	0.992000	0.36948	0.993000	0.49108	0.026000	0.11368	0.295000	0.19065	-0.114000	0.11936	-0.300000	0.09419	TCG		0.383	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		8	154	0	0	0	1	0	8	154				
EPRS	2058	broad.mit.edu	37	1	220206995	220206995	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220206995A>G	ENST00000366923.3	-	4	506	c.237T>C	c.(235-237)gaT>gaC	p.D79D		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	79					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CCAACCAGTGATCAATCTGTC	0.318																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(235-237)gaT>gaC		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						76.0	81.0	80.0					1																	220206995		2203	4300	6503	SO:0001819	synonymous_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220206995A>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.237T>C	1.37:g.220206995A>G							p.D79D	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	4	506	-			79					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	c.237T>C	CCDS31027.1																																																																																				0.318	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		29	47	0	0	0	1	0	29	47				
SHROOM2	357	broad.mit.edu	37	X	9905180	9905180	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9905180G>C	ENST00000380913.3	+	7	3684	c.3594G>C	c.(3592-3594)gaG>gaC	p.E1198D	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Missense_Mutation_p.E33D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1198					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCAGAATTGAGCGGGTGATGG	0.577																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3592-3594)gaG>gaC		shroom family member 2							36.0	23.0	27.0					X																	9905180		2201	4292	6493	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9905180G>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3594G>C	X.37:g.9905180G>C	ENSP00000370299:p.Glu1198Asp					SHROOM2_ENST00000418909.2_Missense_Mutation_p.E33D|SHROOM2_ENST00000493668.1_3'UTR	p.E1198D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			7	3684	+		Hepatocellular(5;0.000888)	1198					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3594G>C	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195942	0.58126	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.48522	2.31;1.4;0.81	4.98	4.1	0.47936	.	0.365474	0.28420	N	0.015414	T	0.49949	0.1587	L	0.52573	1.65	0.33778	D	0.62389	B;D	0.76494	0.044;0.999	B;P	0.57425	0.015;0.82	T	0.61922	-0.6963	10	0.44086	T	0.13	-31.9218	4.3227	0.11025	0.3722:0.0:0.6278:0.0	.	33;1198	Q68DU3;Q13796	.;SHRM2_HUMAN	D	1198;33;33;33	ENSP00000370299:E1198D;ENSP00000415229:E33D;ENSP00000406724:E33D	ENSP00000370299:E1198D	E	+	3	2	SHROOM2	9865180	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	1.174000	0.31932	2.059000	0.61396	0.594000	0.82650	GAG		0.577	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	3	0	0	0	1	0	3	3				
CHAT	1103	broad.mit.edu	37	10	50860015	50860015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50860015G>A	ENST00000337653.2	+	11	1750	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	CHAT_ENST00000395559.2_Missense_Mutation_p.A415T|CHAT_ENST00000339797.1_Missense_Mutation_p.A415T|CHAT_ENST00000351556.3_Missense_Mutation_p.A415T|CHAT_ENST00000455728.2_Missense_Mutation_p.A415T|CHAT_ENST00000395562.2_Missense_Mutation_p.A451T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	533					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAGCCCTGATGCCTTCATCCA	0.468																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1351-1353)Gcc>Acc		choline O-acetyltransferase	Choline(DB00122)						78.0	75.0	76.0					10																	50860015		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50860015G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1597G>A	10.37:g.50860015G>A	ENSP00000337103:p.Ala533Thr					CHAT_ENST00000455728.2_Missense_Mutation_p.A415T|CHAT_ENST00000395559.2_Missense_Mutation_p.A415T|CHAT_ENST00000337653.2_Missense_Mutation_p.A533T|CHAT_ENST00000351556.3_Missense_Mutation_p.A415T|CHAT_ENST00000339797.1_Missense_Mutation_p.A415T	p.A451T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	12	1820	+		all_neural(218;0.107)	533					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1351G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278874	0.80692	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	4.85	4.85	0.62838	.	0.181349	0.49916	D	0.000133	D	0.98058	0.9360	M	0.83012	2.62	0.58432	D	0.999998	B;P	0.48407	0.16;0.91	B;P	0.45558	0.137;0.485	D	0.99572	1.0971	10	0.87932	D	0	-8.899	17.9506	0.89052	0.0:0.0:1.0:0.0	.	415;533	F8W8I2;P28329	.;CLAT_HUMAN	T	415;415;415;533;451;415	ENSP00000343486:A415T;ENSP00000345878:A415T;ENSP00000378926:A415T;ENSP00000337103:A533T;ENSP00000378929:A451T;ENSP00000390521:A415T	ENSP00000337103:A533T	A	+	1	0	CHAT	50530021	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	7.510000	0.81708	2.242000	0.73789	0.561000	0.74099	GCC		0.468	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	28	0	0	0	1	0	7	28				
OR1L3	26735	broad.mit.edu	37	9	125437739	125437739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437739G>T	ENST00000304820.2	+	1	425	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGGAAACATAGATAGTTATCT	0.433																																						ENST00000304820.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						c.(331-333)Gat>Tat		olfactory receptor, family 1, subfamily L, member 3							152.0	154.0	153.0					9																	125437739		2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125437739G>T		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.331G>T	9.37:g.125437739G>T	ENSP00000302863:p.Asp111Tyr						p.D111Y	NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN			1	425	+			111					B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.331G>T	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862446	0.51482	.	.	ENSG00000171481	ENST00000304820	T	0.00477	7.14	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000894	T	0.02230	0.0069	M	0.94021	3.485	0.09310	N	1	D	0.76494	0.999	D	0.70227	0.968	T	0.07539	-1.0767	10	0.87932	D	0	-8.717	16.4974	0.84249	0.0:0.0:1.0:0.0	.	111	Q8NH93	OR1L3_HUMAN	Y	111	ENSP00000302863:D111Y	ENSP00000302863:D111Y	D	+	1	0	OR1L3	124477560	0.967000	0.33354	0.606000	0.28943	0.987000	0.75469	2.638000	0.46562	2.493000	0.84123	0.632000	0.83419	GAT		0.433	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			52	110	1	0	2.24059e-37	1	3.01833e-37	52	110				
CYSLTR1	10800	broad.mit.edu	37	X	77528397	77528397	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77528397G>T	ENST00000373304.3	-	3	1139	c.847C>A	c.(847-849)Ctg>Atg	p.L283M		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	283					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GATGCAGCCAGAGACAAGGTT	0.403																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(847-849)Ctg>Atg		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						69.0	67.0	68.0					X																	77528397		2203	4299	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528397G>T	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.847C>A	X.37:g.77528397G>T	ENSP00000362401:p.Leu283Met						p.L283M	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	1139	-			283					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.847C>A	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201579	0.38905	.	.	ENSG00000173198	ENST00000373304	T	0.55052	0.54	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.168200	0.39687	N	0.001286	T	0.66346	0.2780	L	0.60067	1.865	0.37999	D	0.934172	D	0.89917	1.0	D	0.91635	0.999	T	0.70360	-0.4893	10	0.45353	T	0.12	.	12.4121	0.55473	0.0:0.0:1.0:0.0	.	283	Q9Y271	CLTR1_HUMAN	M	283	ENSP00000362401:L283M	ENSP00000362401:L283M	L	-	1	2	CYSLTR1	77415053	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.994000	0.40757	1.770000	0.52166	0.468000	0.43344	CTG		0.403	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			4	66	1	0	0.00024832	1	0.0002712	4	66				
SUPT6H	6830	broad.mit.edu	37	17	27031790	27031790	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27031790C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000301039.2_Missense_Mutation_p.A55T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(163-165)Gcc>Acc		protein interacting with cyclin A1							130.0	105.0	114.0					17																	27031790		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031790C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031790C>T						PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T	p.A55T	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			2	356	-	Lung NSC(42;0.00431)		83					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.163G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341870	0.05243	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T;T	0.29655	1.56;1.56;3.58	3.86	-4.24	0.03777	.	0.529018	0.20002	N	0.101305	T	0.11965	0.0291	N	0.17474	0.49	0.09310	N	0.999991	B;B	0.19706	0.038;0.038	B;B	0.06405	0.002;0.002	T	0.27739	-1.0065	10	0.14656	T	0.56	.	6.3287	0.21259	0.16:0.5506:0.0:0.2893	.	57;55	G5E9R8;Q8NCQ7-2	.;.	T	55;57;83;57	ENSP00000301039:A55T;ENSP00000411400:A57T;ENSP00000468747:A83T	ENSP00000301039:A55T	A	-	1	0	PROCA1	24055917	0.002000	0.14202	0.025000	0.17156	0.659000	0.38960	-1.994000	0.01474	-0.751000	0.04734	-0.302000	0.09304	GCC		0.592	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		21	30	0	0	0	1	0	21	30				
KIAA0368	23392	broad.mit.edu	37	9	114154072	114154072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114154072A>G	ENST00000338205.5	-	28	3344	c.3125T>C	c.(3124-3126)gTa>gCa	p.V1042A	KIAA0368_ENST00000259335.4_Missense_Mutation_p.V1220A|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1048					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCCTTGAAATACCACTGTCTC	0.338																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(3658-3660)gTa>gCa		KIAA0368							70.0	69.0	69.0					9																	114154072		1840	4086	5926	SO:0001583	missense	23392							g.chr9:114154072A>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3125T>C	9.37:g.114154072A>G	ENSP00000339889:p.Val1042Ala					KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.V1042A	p.V1220A	NM_001080398.1	NP_001073867.1					30	3658	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.3659T>C		.	.	.	.	.	.	.	.	.	.	A	19.53	3.845397	0.71603	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.28255	1.62	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.81341	2.54	0.80722	D	1	P	0.38788	0.647	B	0.38327	0.271	T	0.48091	-0.9065	10	0.87932	D	0	-18.1673	16.1606	0.81704	1.0:0.0:0.0:0.0	.	517	B3KXF2	.	A	1042;1220;517	ENSP00000259335:V1220A	ENSP00000259335:V1220A	V	-	2	0	KIAA0368	113193893	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.268000	0.89876	2.227000	0.72691	0.460000	0.39030	GTA		0.338	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		5	12	0	0	0	1	0	5	12				
DNAH11	8701	broad.mit.edu	37	7	21789968	21789968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21789968C>T	ENST00000409508.3	+	54	8957	c.8926C>T	c.(8926-8928)Cga>Tga	p.R2976*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R2983*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2983	AAA 4. {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						GGCCAGGGTGCGACTACAGCT	0.373									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.(8947-8949)Cga>Tga		dynein, axonemal, heavy chain 11							54.0	53.0	53.0					7																	21789968		1872	4102	5974	SO:0001587	stop_gained	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.chr7:21789968C>T	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.8926C>T	7.37:g.21789968C>T	ENSP00000475939:p.Arg2976*					DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R2976*	p.R2983*			Q96DT5	DYH11_HUMAN			55	8978	+			2983			AAA 4 (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.8947C>T		.	.	.	.	.	.	.	.	.	.	C	51	17.795343	0.99893	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.91	5.03	0.67393	.	1.508610	0.06121	U	0.668929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5088	0.67769	0.0:0.9302:0.0:0.0698	.	.	.	.	X	2983	.	ENSP00000330671:R2983X	R	+	1	2	DNAH11	21756493	0.010000	0.17322	0.970000	0.41538	0.992000	0.81027	1.171000	0.31896	2.808000	0.96608	0.655000	0.94253	CGA		0.373	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	11	0	0	0	1	0	3	11				
MPDZ	8777	broad.mit.edu	37	9	13107046	13107046	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13107046C>A	ENST00000319217.7	-	47	6378	c.6131G>T	c.(6130-6132)aGt>aTt	p.S2044I	MPDZ_ENST00000536827.1_Missense_Mutation_p.S1982I|MPDZ_ENST00000381022.2_Missense_Mutation_p.S2015I|MPDZ_ENST00000541093.1_Missense_Mutation_p.S278I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S2015I|MPDZ_ENST00000538841.1_Missense_Mutation_p.S903I|MPDZ_ENST00000381015.4_Missense_Mutation_p.S2044I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S2011I|MPDZ_ENST00000546205.1_Missense_Mutation_p.S2058I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2044	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTTCTAGACTCTGCCCATT	0.448																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(6130-6132)aGt>aTt		multiple PDZ domain protein							217.0	215.0	216.0					9																	13107046		2011	4178	6189	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13107046C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.6131G>T	9.37:g.13107046C>A	ENSP00000320006:p.Ser2044Ile					MPDZ_ENST00000546205.1_Missense_Mutation_p.S2058I|MPDZ_ENST00000381015.4_Missense_Mutation_p.S2044I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S2015I|MPDZ_ENST00000381022.2_Missense_Mutation_p.S2015I|MPDZ_ENST00000538841.1_Missense_Mutation_p.S903I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1982I|MPDZ_ENST00000541093.1_Missense_Mutation_p.S278I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S2011I	p.S2044I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	47	6378	-			2044			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.6131G>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038040	0.75617	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.52	5.52	0.82312	PDZ/DHR/GLGF (4);	0.000000	0.49305	D	0.000147	T	0.62913	0.2467	M	0.87900	2.915	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.993;0.995;0.999;1.0;0.987;0.992	D;D;D;D;D;D;D;D	0.91635	0.999;0.959;0.959;0.954;0.986;0.999;0.955;0.972	T	0.65348	-0.6190	10	0.44086	T	0.13	.	19.0483	0.93030	0.0:1.0:0.0:0.0	.	1982;903;749;2011;1924;2015;2044;737	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	I	2044;2015;2015;585;278;980;903;1982;2011;2044;1924;2058	ENSP00000320006:S2044I;ENSP00000439807:S2015I;ENSP00000370410:S2015I;ENSP00000415964:S585I;ENSP00000445259:S278I;ENSP00000444230:S980I;ENSP00000444717:S903I;ENSP00000444151:S1982I;ENSP00000415208:S2011I;ENSP00000370403:S2044I;ENSP00000446358:S2058I	ENSP00000320006:S2044I	S	-	2	0	MPDZ	13097046	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.340000	0.43974	2.606000	0.88127	0.563000	0.77884	AGT		0.448	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		49	111	1	0	3.50607e-19	1	4.58539e-19	49	111				
ADCY10	55811	broad.mit.edu	37	1	167865875	167865875	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167865875A>G	ENST00000367851.4	-	7	881	c.697T>C	c.(697-699)Tgt>Cgt	p.C233R	ADCY10_ENST00000545172.1_Missense_Mutation_p.C80R|ADCY10_ENST00000367848.1_Missense_Mutation_p.C141R	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	233					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGTCGTACACTTTGTGAAA	0.363																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(421-423)Tgt>Cgt		adenylate cyclase 10 (soluble)							172.0	188.0	182.0					1																	167865875		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865875A>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.697T>C	1.37:g.167865875A>G	ENSP00000356825:p.Cys233Arg					ADCY10_ENST00000367851.4_Missense_Mutation_p.C233R|ADCY10_ENST00000545172.1_Missense_Mutation_p.C80R	p.C141R			Q96PN6	ADCYA_HUMAN			7	918	-			233			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.421T>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531158	0.45073	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.33865	1.39;1.41;1.41	5.32	5.32	0.75619	.	0.177993	0.40908	D	0.000994	T	0.33498	0.0865	L	0.36672	1.1	0.34022	D	0.652754	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.982;0.96	T	0.13308	-1.0514	9	0.18710	T	0.47	-16.8336	11.961	0.53009	1.0:0.0:0.0:0.0	.	80;141;233	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	R	80;233;141	ENSP00000441992:C80R;ENSP00000356825:C233R;ENSP00000356822:C141R	ENSP00000356822:C141R	C	-	1	0	ADCY10	166132499	1.000000	0.71417	0.916000	0.36221	0.096000	0.18686	4.382000	0.59594	2.133000	0.65898	0.528000	0.53228	TGT		0.363	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		25	311	0	0	0	1	0	25	311				
JAK2	3717	broad.mit.edu	37	9	5050690	5050690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050690G>A	ENST00000381652.3	+	6	967	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	JAK2_ENST00000544510.1_Missense_Mutation_p.R9Q|JAK2_ENST00000539801.1_Missense_Mutation_p.R158Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	158	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTTAGTGGCGGCATGATTTT	0.328		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(472-474)cGg>cAg		Janus kinase 2							89.0	105.0	99.0					9																	5050690		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5050690G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.473G>A	9.37:g.5050690G>A	ENSP00000371067:p.Arg158Gln					JAK2_ENST00000539801.1_Missense_Mutation_p.R158Q|JAK2_ENST00000544510.1_Missense_Mutation_p.R9Q	p.R158Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	6	967	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	158			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.473G>A	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180622	0.78677	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.74421	-0.84;-0.84;-0.84	4.58	4.58	0.56647	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	L	0.42581	1.335	0.80722	D	1	D	0.89917	1.0	P	0.59115	0.852	T	0.74805	-0.3540	10	0.21014	T	0.42	-3.5287	17.4044	0.87469	0.0:0.0:1.0:0.0	.	158	O60674	JAK2_HUMAN	Q	158;158;9	ENSP00000440387:R158Q;ENSP00000371067:R158Q;ENSP00000443103:R9Q	ENSP00000371067:R158Q	R	+	2	0	JAK2	5040690	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.540000	0.82074	2.099000	0.63709	0.462000	0.41574	CGG		0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			13	34	0	0	0	1	0	13	34				
NLRP1	22861	broad.mit.edu	37	17	5424984	5424984	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5424984A>T	ENST00000572272.1	-	13	3642	c.3643T>A	c.(3643-3645)Ttg>Atg	p.L1215M	NLRP1_ENST00000345221.3_Missense_Mutation_p.L1215M|NLRP1_ENST00000354411.3_Missense_Mutation_p.L1185M|NLRP1_ENST00000577119.1_Missense_Mutation_p.L1185M|NLRP1_ENST00000269280.4_Missense_Mutation_p.L1215M|NLRP1_ENST00000262467.5_Missense_Mutation_p.L1219M			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1215					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGACTCCCAAGGGGGAGAAG	0.542																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3643-3645)Ttg>Atg		NLR family, pyrin domain containing 1							83.0	84.0	84.0					17																	5424984		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5424984A>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3643T>A	17.37:g.5424984A>T	ENSP00000460475:p.Leu1215Met					NLRP1_ENST00000354411.3_Missense_Mutation_p.L1185M|NLRP1_ENST00000269280.4_Missense_Mutation_p.L1215M|NLRP1_ENST00000572272.1_Missense_Mutation_p.L1215M|NLRP1_ENST00000577119.1_Missense_Mutation_p.L1185M|NLRP1_ENST00000262467.5_Missense_Mutation_p.L1219M	p.L1215M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			13	4197	-		Colorectal(1115;3.48e-05)	1215					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.3643T>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.312197	0.00237	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	3.9	0.109	0.14578	.	0.462268	0.18422	N	0.141704	T	0.02267	0.0070	N	0.00219	-1.825	0.09310	N	1	B;B;B;B;B	0.26635	0.061;0.128;0.155;0.128;0.155	B;B;B;B;B	0.26310	0.028;0.028;0.047;0.028;0.068	T	0.37619	-0.9698	10	0.02654	T	1	.	2.5157	0.04667	0.3599:0.2051:0.0:0.435	.	1185;1185;1215;1215;1219	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	M	1219;1219;1215;1185;1215;481	ENSP00000442029:L1219M;ENSP00000262467:L1219M;ENSP00000269280:L1215M;ENSP00000346390:L1185M;ENSP00000324366:L1215M	ENSP00000262467:L1219M	L	-	1	2	NLRP1	5365708	0.023000	0.18921	0.013000	0.15412	0.241000	0.25554	-0.005000	0.12855	-0.099000	0.12263	-1.188000	0.01700	TTG		0.542	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		5	61	0	0	0	1	0	5	61				
SLC18A2	6571	broad.mit.edu	37	10	119036673	119036673	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119036673G>A	ENST00000298472.5	+	16	1584	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	481					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTCTTTTAGGCTATTCTCAT	0.313																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.e16-1		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						100.0	99.0	99.0					10																	119036673		2203	4300	6503	SO:0001630	splice_region_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119036673G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1441-1G>A	10.37:g.119036673G>A						SLC18A2_ENST00000497497.1_3'UTR	p.A481_splice	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	16	1584	+		Colorectal(252;0.19)	481					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Splice_Site	SNP	ENST00000298472.5	37	c.1440_splice	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321549	0.81580	.	.	ENSG00000165646	ENST00000298472	T	0.03982	3.74	5.96	5.96	0.96718	.	0.054132	0.64402	D	0.000001	T	0.11196	0.0273	L	0.54323	1.7	0.80722	D	1	P	0.48294	0.908	P	0.46885	0.53	T	0.01966	-1.1238	9	.	.	.	-11.563	20.4082	0.99013	0.0:0.0:1.0:0.0	.	481	Q05940	VMAT2_HUMAN	T	481	ENSP00000298472:A481T	.	A	+	1	0	SLC18A2	119026663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.851000	0.75425	2.814000	0.96858	0.655000	0.94253	GCT		0.313	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	Missense_Mutation	13	28	0	0	0	1	0	13	28				
PLOD3	8985	broad.mit.edu	37	7	100859762	100859762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100859762C>A	ENST00000223127.3	-	3	665	c.267G>T	c.(265-267)aaG>aaT	p.K89N	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	89					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCACCGGACCTTCTGTCCTC	0.577																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(265-267)aaG>aaT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						146.0	136.0	139.0					7																	100859762		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859762C>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.267G>T	7.37:g.100859762C>A	ENSP00000223127:p.Lys89Asn						p.K89N	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			3	665	-	Lung NSC(181;0.168)|all_lung(186;0.215)		89					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.267G>T	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377804	0.61735	.	.	ENSG00000106397	ENST00000223127;ENST00000414785	T;T	0.59083	0.29;0.29	4.94	1.12	0.20585	.	0.142760	0.47093	D	0.000241	T	0.75649	0.3878	M	0.92412	3.305	0.51012	D	0.999903	D	0.71674	0.998	D	0.66847	0.947	T	0.73652	-0.3915	10	0.87932	D	0	0.9128	6.8986	0.24271	0.0:0.6108:0.0:0.3892	.	89	O60568	PLOD3_HUMAN	N	89;93	ENSP00000223127:K89N;ENSP00000407551:K93N	ENSP00000223127:K89N	K	-	3	2	PLOD3	100646482	0.999000	0.42202	0.997000	0.53966	0.706000	0.40770	0.729000	0.26028	-0.063000	0.13065	-0.350000	0.07774	AAG		0.577	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			14	38	1	0	6.31663e-08	1	7.49729e-08	14	38				
BTAF1	9044	broad.mit.edu	37	10	93786957	93786957	+	Missense_Mutation	SNP	A	A	G	rs201415370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93786957A>G	ENST00000265990.6	+	37	5614	c.5306A>G	c.(5305-5307)aAa>aGa	p.K1769R	BTAF1_ENST00000544642.1_Missense_Mutation_p.K597R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1769	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGGTTGCAGAAATTCAAGATG	0.378													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21434	0.0		0.0	False		,,,				2504	0.0					ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(5305-5307)aAa>aGa		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							147.0	147.0	147.0					10																	93786957		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93786957A>G	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5306A>G	10.37:g.93786957A>G	ENSP00000265990:p.Lys1769Arg					BTAF1_ENST00000544642.1_Missense_Mutation_p.K597R	p.K1769R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			37	5614	+		Colorectal(252;0.0846)	1769			Helicase C-terminal.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.5306A>G	CCDS7419.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.37	1.619473	0.28801	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75589	-0.95;-0.95	5.52	5.52	0.82312	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	N	0.12502	0.225	0.80722	D	1	B	0.31351	0.32	B	0.37091	0.241	T	0.59134	-0.7511	10	0.18276	T	0.48	-24.4949	15.9359	0.79707	1.0:0.0:0.0:0.0	.	1769	O14981	BTAF1_HUMAN	R	1769;597;619	ENSP00000265990:K1769R;ENSP00000439924:K597R	ENSP00000265990:K1769R	K	+	2	0	BTAF1	93776937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.225000	0.72522	0.459000	0.35465	AAA		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		18	96	0	0	0	1	0	18	96				
ACAN	176	broad.mit.edu	37	15	89400981	89400981	+	Missense_Mutation	SNP	C	C	A	rs200794149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89400981C>A	ENST00000561243.1	+	11	5165	c.5165C>A	c.(5164-5166)tCt>tAt	p.S1722Y	ACAN_ENST00000352105.7_Missense_Mutation_p.S1722Y|ACAN_ENST00000439576.2_Missense_Mutation_p.S1722Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S1722Y			P16112	PGCA_HUMAN	aggrecan	1754	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATCTGGGTCTCCTGATGTC	0.527																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5164-5166)tCt>tAt		aggrecan							163.0	161.0	162.0					15																	89400981		1954	4140	6094	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400981C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5165C>A	15.37:g.89400981C>A	ENSP00000453342:p.Ser1722Tyr					ACAN_ENST00000352105.7_Missense_Mutation_p.S1722Y|ACAN_ENST00000561243.1_Missense_Mutation_p.S1722Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S1722Y	p.S1722Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5539	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1722					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5165C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470940	0.12461	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02258	4.59;4.37	5.74	4.73	0.59995	.	0.547906	0.13866	N	0.357303	T	0.06280	0.0162	M	0.68952	2.095	0.23287	N	0.997973	D;D	0.76494	0.994;0.999	P;D	0.68943	0.885;0.961	T	0.34650	-0.9820	10	0.02654	T	1	-0.9263	4.6151	0.12422	0.0:0.7265:0.0:0.2735	.	1722;1722	E7ENV9;E7EX88	.;.	Y	1722;1722;1608	ENSP00000387356:S1722Y;ENSP00000341615:S1722Y	ENSP00000268134:S1608Y	S	+	2	0	ACAN	87201985	0.000000	0.05858	0.999000	0.59377	0.876000	0.50452	0.214000	0.17541	2.710000	0.92621	0.655000	0.94253	TCT		0.527	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		67	111	1	0	6.06247e-24	1	8.03456e-24	67	111				
ZNF571	51276	broad.mit.edu	37	19	38055937	38055937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38055937G>A	ENST00000328550.2	-	4	1492	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTTCTCATGTTGAGTAAGA	0.363																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1393-1395)Cat>Tat		zinc finger protein 571							83.0	82.0	82.0					19																	38055937		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055937G>A	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1393C>T	19.37:g.38055937G>A	ENSP00000333660:p.His465Tyr					ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.H465Y|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000585578.1_RNA	p.H465Y			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1492	-			465					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1393C>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476450	0.63737	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	D;D;D	0.86769	-2.17;-2.17;-2.17	3.64	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94833	0.8331	H	0.95187	3.635	0.31760	N	0.633485	D	0.89917	1.0	D	0.97110	1.0	D	0.93744	0.7053	9	0.87932	D	0	.	10.6546	0.45667	0.0:0.0:1.0:0.0	.	465	Q7Z3V5	ZN571_HUMAN	Y	465	ENSP00000333660:H465Y;ENSP00000392638:H465Y;ENSP00000351594:H465Y	ENSP00000333660:H465Y	H	-	1	0	ZNF571	42747777	1.000000	0.71417	0.063000	0.19743	0.919000	0.55068	8.053000	0.89449	1.842000	0.53543	0.305000	0.20034	CAT		0.363	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		5	85	0	0	0	1	0	5	85				
ANAPC5	51433	broad.mit.edu	37	12	121756220	121756220	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121756220G>A	ENST00000261819.3	-	15	1874	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ANAPC5_ENST00000344395.4_Silent_p.L473L|ANAPC5_ENST00000541887.1_Silent_p.L572L|ANAPC5_ENST00000441917.2_Silent_p.L473L|ANAPC5_ENST00000535482.1_Silent_p.L251L|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	585					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCACGGACAGTAGGACACTG	0.542																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1753-1755)Ctg>Ttg		anaphase promoting complex subunit 5							116.0	103.0	108.0					12																	121756220		2203	4300	6503	SO:0001819	synonymous_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121756220G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1753C>T	12.37:g.121756220G>A						ANAPC5_ENST00000541887.1_Silent_p.L572L|ANAPC5_ENST00000535482.1_Silent_p.L251L|ANAPC5_ENST00000441917.2_Silent_p.L473L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Silent_p.L473L	p.L585L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			15	1874	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		585					E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	c.1753C>T	CCDS9220.1																																																																																				0.542	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			20	31	0	0	0	1	0	20	31				
UNC45A	55898	broad.mit.edu	37	15	91491397	91491397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91491397G>A	ENST00000418476.2	+	12	1661	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	UNC45A_ENST00000394275.2_Missense_Mutation_p.A526T	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	541					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAGATCGACGCAGGCACTCG	0.602																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1576-1578)Gca>Aca		unc-45 homolog A (C. elegans)							128.0	114.0	119.0					15																	91491397		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91491397G>A		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1621G>A	15.37:g.91491397G>A	ENSP00000407487:p.Ala541Thr					UNC45A_ENST00000418476.2_Missense_Mutation_p.A541T	p.A526T	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		15	2411	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		541					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.1576G>A	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	G	8.330	0.826335	0.16749	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.47528	0.84;0.84	5.31	3.3	0.37823	Armadillo-like helical (1);Armadillo-type fold (1);	0.286368	0.40385	N	0.001105	T	0.24122	0.0584	N	0.20685	0.6	0.09310	N	1	B;B	0.28880	0.226;0.226	B;B	0.19666	0.026;0.026	T	0.09684	-1.0663	10	0.13853	T	0.58	-5.9123	5.8123	0.18473	0.076:0.1095:0.6142:0.2003	.	541;526	Q9H3U1;A8K6F7	UN45A_HUMAN;.	T	526;541	ENSP00000377816:A526T;ENSP00000407487:A541T	ENSP00000377816:A526T	A	+	1	0	UNC45A	89292401	0.002000	0.14202	0.034000	0.17996	0.789000	0.44602	0.869000	0.27996	1.483000	0.48342	0.650000	0.86243	GCA		0.602	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		30	61	0	0	0	1	0	30	61				
DST	667	broad.mit.edu	37	6	56397210	56397210	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56397210C>T	ENST00000361203.3	-	60	16414	c.16407G>A	c.(16405-16407)gtG>gtA	p.V5469V	DST_ENST00000244364.6_Silent_p.V3057V|DST_ENST00000370769.4_Silent_p.V5471V|DST_ENST00000446842.2_Silent_p.V5145V|DST_ENST00000421834.2_Silent_p.V3383V|DST_ENST00000370788.2_Silent_p.V3383V|DST_ENST00000370754.5_Silent_p.V5649V|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5469					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAAATCTTCACTTTATCTG	0.403																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16945-16947)gtG>gtA		dystonin							105.0	93.0	97.0					6																	56397210		1850	4097	5947	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56397210C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16407G>A	6.37:g.56397210C>T						DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.V5471V|DST_ENST00000421834.2_Silent_p.V3383V|DST_ENST00000370788.2_Silent_p.V3383V|DST_ENST00000244364.6_Silent_p.V3057V|DST_ENST00000361203.3_Silent_p.V5469V|DST_ENST00000446842.2_Silent_p.V5145V|DST_ENST00000340834.4_5'UTR	p.V5649V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		64	16946	-	Lung NSC(77;0.103)		5469					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.16947G>A																																																																																					0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	18	0	0	0	1	0	15	18				
TNR	7143	broad.mit.edu	37	1	175299312	175299312	+	Missense_Mutation	SNP	G	G	A	rs370443422		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175299312G>A	ENST00000367674.2	-	21	4399	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W	TNR_ENST00000263525.2_Missense_Mutation_p.R1231W|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1231	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCCATCCCGCATGTCCACG	0.577																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3691-3693)Cgg>Tgg		tenascin R		G	TRP/ARG	0,4406		0,0,2203	79.0	69.0	72.0		3691	3.6	1.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNR	NM_003285.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1231/1359	175299312	1,13005	2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175299312G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3691C>T	1.37:g.175299312G>A	ENSP00000356646:p.Arg1231Trp					RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1231W	p.R1231W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			21	4399	-	Renal(580;0.146)		1231			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3691C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751720	0.49362	0.0	1.16E-4	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.78481	-1.18;-1.18	5.55	3.58	0.41010	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.060852	0.64402	D	0.000006	D	0.86994	0.6067	M	0.79614	2.46	0.45899	D	0.998742	D	0.89917	1.0	D	0.74348	0.983	D	0.87668	0.2539	10	0.87932	D	0	.	13.6971	0.62587	0.0:0.0:0.5618:0.4382	.	1231	Q92752	TENR_HUMAN	W	1231;1231;1141	ENSP00000356646:R1231W;ENSP00000263525:R1231W	ENSP00000263525:R1231W	R	-	1	2	TNR	173565935	1.000000	0.71417	0.984000	0.44739	0.150000	0.21749	2.505000	0.45424	0.603000	0.29913	0.655000	0.94253	CGG		0.577	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		24	22	0	0	0	1	0	24	22				
CLASP1	23332	broad.mit.edu	37	2	122285375	122285375	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122285375G>A	ENST00000263710.4	-	5	859	c.470C>T	c.(469-471)gCc>gTc	p.A157V	CLASP1_ENST00000455322.2_Splice_Site_p.A157V|RP11-204L24.2_ENST00000577914.1_RNA|CLASP1_ENST00000541377.1_Splice_Site_p.A157V|CLASP1_ENST00000397587.3_Splice_Site_p.A157V|CLASP1_ENST00000409078.3_Splice_Site_p.A157V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	157					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCAGACTTACGCATTGAGTGT	0.383																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.e5+1		cytoplasmic linker associated protein 1							86.0	79.0	82.0					2																	122285375		1912	4114	6026	SO:0001630	splice_region_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122285375G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.470+1C>T	2.37:g.122285375G>A						CLASP1_ENST00000397587.3_Splice_Site_p.A157_splice|CLASP1_ENST00000541377.1_Splice_Site_p.A157_splice|CLASP1_ENST00000455322.2_Splice_Site_p.A157_splice|CLASP1_ENST00000409078.3_Splice_Site_p.A157_splice	p.A157_splice	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			5	859	-	Renal(3;0.0496)		157					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Splice_Site	SNP	ENST00000263710.4	37	c.470_splice		.	.	.	.	.	.	.	.	.	.	G	7.345	0.621611	0.14193	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.73	4.73	0.59995	Armadillo-like helical (1);Armadillo-type fold (1);	0.214668	0.39615	N	0.001317	T	0.16471	0.0396	N	0.02011	-0.69	0.80722	D	1	B;B;B;B	0.17038	0.001;0.001;0.001;0.02	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.13899	-1.0492	9	.	.	.	-4.4402	11.239	0.48958	0.086:0.0:0.914:0.0	.	157;157;157;157	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	V	157	ENSP00000263710:A157V;ENSP00000389372:A157V;ENSP00000380717:A157V;ENSP00000441625:A157V;ENSP00000386442:A157V	.	A	-	2	0	CLASP1	122001845	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.346000	0.33964	2.337000	0.79520	0.591000	0.81541	GCC		0.383	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation	11	23	0	0	0	1	0	11	23				
SLC9C1	285335	broad.mit.edu	37	3	111870782	111870782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111870782C>A	ENST00000305815.5	-	28	3698	c.3446G>T	c.(3445-3447)aGg>aTg	p.R1149M	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1101M	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1149					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTGGGGACTCCTGGCAGTGGC	0.527																																						ENST00000305815.5																			0											c.(3445-3447)aGg>aTg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							77.0	81.0	80.0					3																	111870782		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111870782C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3446G>T	3.37:g.111870782C>A	ENSP00000306627:p.Arg1149Met					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1101M	p.R1149M	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			28	3698	-			1149					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3446G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778886	0.16120	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79653	-1.27;-1.29	2.47	0.891	0.19224	.	.	.	.	.	T	0.71367	0.3331	N	0.22421	0.69	0.09310	N	1	D;P	0.54207	0.965;0.94	P;B	0.50192	0.634;0.431	T	0.61402	-0.7070	9	0.72032	D	0.01	.	4.0838	0.09939	0.0:0.6656:0.0:0.3344	.	1101;1149	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	M	1149;1101	ENSP00000306627:R1149M;ENSP00000420688:R1101M	ENSP00000306627:R1149M	R	-	2	0	SLC9A10	113353472	0.001000	0.12720	0.019000	0.16419	0.026000	0.11368	0.027000	0.13621	0.209000	0.20645	0.591000	0.81541	AGG		0.527	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		14	37	1	0	1.99824e-07	1	2.35189e-07	14	37				
GUCY2C	2984	broad.mit.edu	37	12	14775117	14775117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14775117G>T	ENST00000261170.3	-	22	2559	c.2423C>A	c.(2422-2424)tCt>tAt	p.S808Y	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	808					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTCCTTCAGAGACTTTACCAC	0.388																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2422-2424)tCt>tAt		guanylate cyclase 2C (heat stable enterotoxin receptor)							72.0	70.0	71.0					12																	14775117		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14775117G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2423C>A	12.37:g.14775117G>T	ENSP00000261170:p.Ser808Tyr						p.S808Y	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			22	2559	-			808					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2423C>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253458	0.80135	.	.	ENSG00000070019	ENST00000261170	D	0.81739	-1.53	5.27	5.27	0.74061	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.102468	0.64402	D	0.000001	D	0.91229	0.7236	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.92507	0.6013	10	0.72032	D	0.01	.	18.9135	0.92494	0.0:0.0:1.0:0.0	.	808	P25092	GUC2C_HUMAN	Y	808	ENSP00000261170:S808Y	ENSP00000261170:S808Y	S	-	2	0	GUCY2C	14666384	1.000000	0.71417	0.975000	0.42487	0.808000	0.45660	6.633000	0.74286	2.465000	0.83290	0.655000	0.94253	TCT		0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			4	34	1	0	0.00909568	1	0.00947522	4	34				
ZDHHC17	23390	broad.mit.edu	37	12	77220687	77220687	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77220687G>T	ENST00000426126.2	+	9	1546		c.e9-1		ZDHHC17_ENST00000334822.5_Splice_Site	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17						lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTTCTATACAGGAATTTCGGC	0.358																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.e9-1		zinc finger, DHHC-type containing 17							126.0	118.0	120.0					12																	77220687		1809	4069	5878	SO:0001630	splice_region_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77220687G>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.898-1G>T	12.37:g.77220687G>T						ZDHHC17_ENST00000334822.5_Splice_Site		NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			9	1546	+								B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Splice_Site	SNP	ENST00000426126.2	37		CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666244	0.88251	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000550876	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5896	0.95503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZDHHC17	75744818	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.878000	0.87231	2.688000	0.91661	0.650000	0.86243	.		0.358	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	Intron	20	55	1	0	1.64293e-13	1	2.0847e-13	20	55				
LRP2	4036	broad.mit.edu	37	2	170094773	170094773	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170094773T>G	ENST00000263816.3	-	27	4619	c.4334A>C	c.(4333-4335)aAa>aCa	p.K1445T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1445					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGCAATAATTTTGTTCTGACT	0.378																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4333-4335)aAa>aCa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						75.0	71.0	72.0					2																	170094773		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170094773T>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4334A>C	2.37:g.170094773T>G	ENSP00000263816:p.Lys1445Thr						p.K1445T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	27	4619	-			1445					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4334A>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	8.060	0.767972	0.15983	.	.	ENSG00000081479	ENST00000263816	D	0.90620	-2.7	5.19	-0.215	0.13157	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.193746	0.46758	D	0.000279	T	0.75391	0.3843	N	0.11427	0.14	0.80722	D	1	B	0.19200	0.034	B	0.17722	0.019	T	0.55256	-0.8169	10	0.20046	T	0.44	.	5.542	0.17043	0.1166:0.2013:0.0:0.6821	.	1445	P98164	LRP2_HUMAN	T	1445	ENSP00000263816:K1445T	ENSP00000263816:K1445T	K	-	2	0	LRP2	169803019	1.000000	0.71417	0.024000	0.17045	0.451000	0.32288	3.104000	0.50306	-0.286000	0.09076	-1.054000	0.02325	AAA		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		3	44	0	0	0	1	0	3	44				
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269043G>T	ENST00000405948.2	+	7	1832	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471M	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1411-1413)aGg>aTg		piggyBac transposable element derived 1							168.0	166.0	167.0					6																	28269043		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269043G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1412G>T	6.37:g.28269043G>T	ENSP00000385213:p.Arg471Met					PGBD1_ENST00000259883.3_Missense_Mutation_p.R471M	p.R471M	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1832	+			471					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1412G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	7.685	0.689780	0.14973	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.20738	2.05;2.05	4.66	2.85	0.33270	.	0.521782	0.16320	N	0.219617	T	0.06050	0.0157	L	0.33485	1.01	0.09310	N	1	B	0.22480	0.07	B	0.29440	0.102	T	0.32481	-0.9905	10	0.51188	T	0.08	-8.2565	5.8593	0.18736	0.0984:0.0:0.7124:0.1891	.	471	Q96JS3	PGBD1_HUMAN	M	471	ENSP00000385213:R471M;ENSP00000259883:R471M	ENSP00000259883:R471M	R	+	2	0	PGBD1	28377022	0.006000	0.16342	0.013000	0.15412	0.981000	0.71138	0.070000	0.14573	0.673000	0.31224	0.655000	0.94253	AGG		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			12	143	1	0	4.3838e-07	1	5.12524e-07	12	143				
ADAMTS16	170690	broad.mit.edu	37	5	5190119	5190119	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5190119C>A	ENST00000274181.7	+	7	1221	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	ADAMTS16_ENST00000511368.1_Silent_p.T361T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	361	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACCACACCTTAAGTAGCT	0.483																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1081-1083)acC>acA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							122.0	121.0	121.0					5																	5190119		2058	4217	6275	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190119C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1083C>A	5.37:g.5190119C>A						ADAMTS16_ENST00000511368.1_Silent_p.T361T	p.T361T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			7	1221	+			361			Peptidase M12B.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1083C>A	CCDS43299.1																																																																																				0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		8	68	1	0	0.000157383	1	0.00017284	8	68				
MTF2	22823	broad.mit.edu	37	1	93594929	93594929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93594929G>T	ENST00000370298.4	+	11	1373	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	MTF2_ENST00000370303.4_Intron|MTF2_ENST00000540243.1_Nonsense_Mutation_p.E260*|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Nonsense_Mutation_p.E260*	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	362					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TTTCAAAGCAGAGAAAGAACC	0.378																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1084-1086)Gag>Tag		metal response element binding transcription factor 2							111.0	114.0	113.0					1																	93594929		2203	4300	6503	SO:0001587	stop_gained	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93594929G>T	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1084G>T	1.37:g.93594929G>T	ENSP00000359321:p.Glu362*					MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Nonsense_Mutation_p.E260*|MTF2_ENST00000545708.1_Nonsense_Mutation_p.E260*|MTF2_ENST00000370303.4_Intron	p.E362*	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	11	1373	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	362					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Nonsense_Mutation	SNP	ENST00000370298.4	37	c.1084G>T	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	40	8.155972	0.98680	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953	.	.	.	5.34	5.34	0.76211	.	0.260199	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.6954	19.4108	0.94671	0.0:0.0:1.0:0.0	.	.	.	.	X	260;260;362;260	.	ENSP00000359321:E362X	E	+	1	0	MTF2	93367517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.700000	0.54786	2.643000	0.89663	0.655000	0.94253	GAG		0.378	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		6	175	1	0	0.00198382	1	0.00210581	6	175				
METAP2	10988	broad.mit.edu	37	12	95887833	95887833	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95887833C>T	ENST00000323666.5	+	5	659	c.430C>T	c.(430-432)Cga>Tga	p.R144*	METAP2_ENST00000551840.1_Splice_Site_p.R143*|METAP2_ENST00000546753.1_Splice_Site_p.R121*|METAP2_ENST00000550777.1_Splice_Site_p.R108*|METAP2_ENST00000261220.9_Splice_Site_p.R121*	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						ACTCTAAAGGCGAACAGCTGC	0.373																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.e5-1		methionyl aminopeptidase 2	L-Methionine(DB00134)						76.0	70.0	72.0					12																	95887833		2203	4300	6503	SO:0001630	splice_region_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95887833C>T	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.429-1C>T	12.37:g.95887833C>T						METAP2_ENST00000546753.1_Splice_Site_p.R121_splice|METAP2_ENST00000261220.9_Splice_Site_p.R121_splice|METAP2_ENST00000551840.1_Splice_Site_p.R143_splice|METAP2_ENST00000550777.1_Splice_Site_p.R108_splice	p.R144_splice	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			5	659	+			144						Splice_Site	SNP	ENST00000323666.5	37	c.428_splice	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274967	0.80580	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000553151;ENST00000550777;ENST00000551840;ENST00000549808	.	.	.	5.41	3.39	0.38822	.	0.057921	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9044	14.1053	0.65085	0.29:0.71:0.0:0.0	.	.	.	.	X	144;121;121;120;108;143;46	.	ENSP00000261220:R121X	R	+	1	2	METAP2	94411964	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.730000	0.55006	1.195000	0.43115	0.585000	0.79938	CGA		0.373	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	Nonsense_Mutation	29	35	0	0	0	1	0	29	35				
MIR377	494326	broad.mit.edu	37	14	101526115	101526115	+	RNA	SNP	C	C	T	rs375213313		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101526115C>T	ENST00000362145.2	+	0	0				MIR496_ENST00000385226.1_RNA|MIR154_ENST00000385243.1_RNA	NR_029869.1				microRNA 377																		ATAGGTTATCCGTGTTGCCTT	0.502																																						ENST00000385243.1																			0															C		0,3136		0,0,1568	272.0	246.0	254.0			3.4	1.0	14		254	1,7163		0,1,3581	no	intergenic				0,1,5149	TT,TC,CC		0.014,0.0,0.0097			101526115	1,10299	1568	3582	5150			0							g.chr14:101526115C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101526115C>T								NR_029704.1						0	24	+									RNA	SNP	ENST00000362145.2	37																																																																																						0.502	MIR377-201	KNOWN	basic	miRNA	miRNA		NR_029869		5	96	0	0	0	1	0	5	96				
RPA1	6117	broad.mit.edu	37	17	1747248	1747248	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747248C>T	ENST00000254719.5	+	3	229	c.119C>T	c.(118-120)cCg>cTg	p.P40L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	40					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AATAGTCCGCCGCGTTATCGA	0.458								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(118-120)cCg>cTg	Nucleotide excision repair (NER)	replication protein A1, 70kDa							170.0	129.0	143.0					17																	1747248		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1747248C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.119C>T	17.37:g.1747248C>T	ENSP00000254719:p.Pro40Leu						p.P40L	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			3	229	+			40					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.119C>T	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674574	0.47781	.	.	ENSG00000132383	ENST00000254719	T	0.43688	0.94	5.96	4.94	0.65067	Replication factor-A protein 1, N-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.334743	0.35772	N	0.002997	T	0.39118	0.1066	M	0.64997	1.995	0.58432	D	0.999999	D	0.55800	0.973	B	0.39258	0.295	T	0.33189	-0.9878	10	0.33940	T	0.23	-12.3257	14.932	0.70923	0.1437:0.8562:0.0:0.0	.	40	P27694	RFA1_HUMAN	L	40	ENSP00000254719:P40L	ENSP00000254719:P40L	P	+	2	0	RPA1	1693998	0.875000	0.30112	1.000000	0.80357	0.718000	0.41266	3.232000	0.51302	2.831000	0.97527	0.650000	0.86243	CCG		0.458	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		27	40	0	0	0	1	0	27	40				
CEP131	22994	broad.mit.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T	rs577025986		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000374782.3_Missense_Mutation_p.E884K|AZI1_ENST00000450824.2_Missense_Mutation_p.E920K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		923					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13518	0.001		0.0	False		,,,				2504	0.0					ENST00000269392.4																			2	Substitution - Missense(2)	p.E920K(1)|p.E884K(1)	urinary_tract(2)	breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(2767-2769)Gag>Aag		5-azacytidine induced 1							51.0	56.0	54.0					17																	79165000		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79165000C>T																												ENST00000269392.4:c.2767G>A	17.37:g.79165000C>T	ENSP00000269392:p.Glu923Lys					AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000450824.2_Missense_Mutation_p.E920K|AZI1_ENST00000374782.3_Missense_Mutation_p.E884K	p.E923K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		22	3014	-	all_neural(118;0.0804)|Melanoma(429;0.242)		923					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2767G>A		.	.	.	.	.	.	.	.	.	.	C	17.97	3.519393	0.64634	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.29;2.34;2.29	5.15	4.18	0.49190	.	0.124400	0.52532	D	0.000062	T	0.34803	0.0910	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;0.973;0.973	P;D;B;B	0.67231	0.877;0.95;0.406;0.406	T	0.04178	-1.0971	10	0.27785	T	0.31	-20.5648	13.2217	0.59892	0.0:0.9231:0.0:0.0769	.	920;923;884;920	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	920;884;923	ENSP00000393583:E920K;ENSP00000363914:E884K;ENSP00000269392:E923K	ENSP00000269392:E923K	E	-	1	0	AZI1	76779595	1.000000	0.71417	0.796000	0.32109	0.024000	0.10985	7.355000	0.79434	1.161000	0.42604	0.591000	0.81541	GAG		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			24	30	0	0	0	1	0	24	30				
CD81	975	broad.mit.edu	37	11	2411695	2411695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2411695G>T	ENST00000263645.5	+	2	376	c.120G>T	c.(118-120)caG>caT	p.Q40H	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.Q78H	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	40					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGACCCGCAGACCACCAACC	0.617																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(118-120)caG>caT		CD81 molecule							107.0	98.0	101.0					11																	2411695		2202	4297	6499	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2411695G>T		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.120G>T	11.37:g.2411695G>T	ENSP00000263645:p.Gln40His					CD81_ENST00000526072.1_5'UTR|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.Q78H|CD81_ENST00000492627.1_5'UTR	p.Q40H	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	376	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	40					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.120G>T	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.08|14.08	2.428057|2.428057	0.43122|0.43122	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252|ENST00000464784	T;T;T;T;T;T|.	0.58358|.	0.54;1.34;0.37;2.22;0.34;1.38|.	4.01|4.01	3.08|3.08	0.35506|0.35506	.|.	0.138683|.	0.49305|.	D|.	0.000151|.	T|T	0.53400|0.53400	0.1794|0.1794	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	B;B|.	0.24768|.	0.111;0.063|.	B;B|.	0.23275|.	0.045;0.026|.	T|T	0.46091|0.46091	-0.9216|-0.9216	10|5	0.51188|.	T|.	0.08|.	.|.	8.1431|8.1431	0.31095|0.31095	0.189:0.0:0.811:0.0|0.189:0.0:0.811:0.0	.|.	78;40|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	H|I	40;35;29;32;78;33|25	ENSP00000263645:Q40H;ENSP00000435633:Q35H;ENSP00000433767:Q29H;ENSP00000432497:Q32H;ENSP00000370424:Q78H;ENSP00000432249:Q33H|.	ENSP00000263645:Q40H|.	Q|R	+|+	3|2	2|0	CD81|CD81	2368271|2368271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.651000|1.651000	0.37302|0.37302	1.021000|1.021000	0.39600|0.39600	0.462000|0.462000	0.41574|0.41574	CAG|AGA		0.617	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		10	97	1	0	1.58986e-06	1	1.84011e-06	10	97				
ELF4	2000	broad.mit.edu	37	X	129208064	129208064	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129208064A>G	ENST00000308167.5	-	4	679	c.300T>C	c.(298-300)aaT>aaC	p.N100N	ELF4_ENST00000335997.7_Silent_p.N100N	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGACTCCATATTGAGTAAGA	0.478			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(298-300)aaT>aaC		E74-like factor 4 (ets domain transcription factor)							183.0	156.0	165.0					X																	129208064		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129208064A>G	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.300T>C	X.37:g.129208064A>G						ELF4_ENST00000335997.7_Silent_p.N100N	p.N100N	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			4	679	-			100			RUNX1-binding.			Silent	SNP	ENST00000308167.5	37	c.300T>C	CCDS14617.1																																																																																				0.478	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		8	118	0	0	0	1	0	8	118				
CDK13	8621	broad.mit.edu	37	7	40133900	40133900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133900C>T	ENST00000181839.4	+	14	4465	c.3860C>T	c.(3859-3861)aCc>aTc	p.T1287I	CDK13_ENST00000340829.5_Missense_Mutation_p.T1227I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1287					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTACCCACCACCAGTTCTTCA	0.542																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(3859-3861)aCc>aTc		cyclin-dependent kinase 13							143.0	132.0	136.0					7																	40133900		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40133900C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3860C>T	7.37:g.40133900C>T	ENSP00000181839:p.Thr1287Ile					CDK13_ENST00000340829.5_Missense_Mutation_p.T1227I	p.T1287I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			14	4465	+			1287					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.3860C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937177	0.18206	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.71341	-0.49;-0.56	5.0	5.0	0.66597	.	.	.	.	.	T	0.55909	0.1950	L	0.29908	0.895	0.35644	D	0.811229	B;B	0.25312	0.123;0.01	B;B	0.22152	0.038;0.005	T	0.58808	-0.7571	8	.	.	.	-12.3038	10.2309	0.43253	0.0:0.7863:0.1379:0.0759	.	1227;1287	Q14004-2;Q14004	.;CDK13_HUMAN	I	1287;1227	ENSP00000181839:T1287I;ENSP00000340557:T1227I	.	T	+	2	0	CDK13	40100425	0.965000	0.33210	0.998000	0.56505	0.974000	0.67602	2.347000	0.44036	2.487000	0.83934	0.655000	0.94253	ACC		0.542	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		29	104	0	0	0	1	0	29	104				
ZXDA	7789	broad.mit.edu	37	X	57936083	57936083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57936083G>A	ENST00000358697.4	-	1	984	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	258					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCAGAGCCCAGCAGTCCGCGG	0.721																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(772-774)Ctg>Ttg		zinc finger, X-linked, duplicated A							8.0	8.0	8.0					X																	57936083		2171	4235	6406	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936083G>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.772C>T	X.37:g.57936083G>A							p.L258L	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	984	-			258					Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.772C>T	CCDS14376.1																																																																																				0.721	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		5	6	0	0	0	1	0	5	6				
TATDN2	9797	broad.mit.edu	37	3	10302299	10302299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10302299G>A	ENST00000287652.4	+	3	1944	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	TATDN2_ENST00000448281.2_Missense_Mutation_p.C298Y|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	298					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATTGACAAATGCTCTCCACCC	0.468																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(892-894)tGc>tAc		TatD DNase domain containing 2							86.0	89.0	88.0					3																	10302299		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10302299G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.893G>A	3.37:g.10302299G>A	ENSP00000287652:p.Cys298Tyr					TATDN2_ENST00000448281.2_Missense_Mutation_p.C298Y|RP11-438J1.1_ENST00000450534.1_3'UTR	p.C298Y	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			3	1944	+			298					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.893G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.350676	0.01256	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.22134	1.97;1.97	5.15	-4.52	0.03472	.	2.653170	0.01725	N	0.028559	T	0.13457	0.0326	N	0.22421	0.69	0.09310	N	1	B	0.22346	0.068	B	0.21360	0.034	T	0.22487	-1.0215	10	0.52906	T	0.07	1.5528	4.7343	0.12981	0.2545:0.5047:0.1468:0.094	.	298	Q93075	TATD2_HUMAN	Y	298	ENSP00000287652:C298Y;ENSP00000408736:C298Y	ENSP00000287652:C298Y	C	+	2	0	TATDN2	10277299	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.530000	0.06179	-1.127000	0.02925	-0.345000	0.07892	TGC		0.468	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		8	91	0	0	0	1	0	8	91				
ICE1	23379	broad.mit.edu	37	5	5464590	5464590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464590C>T	ENST00000296564.7	+	13	5365	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1715	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTCTCCTCTGCAGTTCTGTGC	0.627																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(5143-5145)Cag>Tag		KIAA0947							66.0	68.0	68.0					5																	5464590		2094	4226	6320	SO:0001587	stop_gained	23379							g.chr5:5464590C>T																												ENST00000296564.7:c.5143C>T	5.37:g.5464590C>T	ENSP00000296564:p.Gln1715*						p.Q1715*	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	5365	+			1715			Pro-rich.		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.5143C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	47	13.675743	0.99756	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.4045	16.8165	0.85735	0.0:1.0:0.0:0.0	.	.	.	.	X	1715	.	ENSP00000296564:Q1715X	Q	+	1	0	KIAA0947	5517590	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.430000	0.59907	2.559000	0.86315	0.460000	0.39030	CAG		0.627	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			19	34	0	0	0	1	0	19	34				
SEC61A2	55176	broad.mit.edu	37	10	12197318	12197318	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12197318C>T	ENST00000298428.9	+	7	551				SEC61A2_ENST00000379051.1_Silent_p.H157H|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000495368.1_Intron	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGGATCAACACAGCCCTTAGA	0.299																																						ENST00000379051.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(469-471)caC>caT		Sec61 alpha 2 subunit (S. cerevisiae)							13.0	13.0	13.0					10																	12197318		875	1989	2864	SO:0001627	intron_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197318C>T	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.463-459C>T	10.37:g.12197318C>T						SEC61A2_ENST00000298428.9_Intron|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000495368.1_Intron	p.H157H			Q9H9S3	S61A2_HUMAN			7	622	+		Renal(717;0.228)	0					A8K8D0|B4DX72|F8W773	Silent	SNP	ENST00000298428.9	37	c.471C>T	CCDS7088.1																																																																																				0.299	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		6	9	0	0	0	1	0	6	9				
PICALM	8301	broad.mit.edu	37	11	85692981	85692981	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85692981C>T	ENST00000393346.3	-	15	1730	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T	PICALM_ENST00000526033.1_Missense_Mutation_p.A521T|PICALM_ENST00000356360.5_Missense_Mutation_p.A528T|PICALM_ENST00000528398.1_Missense_Mutation_p.A427T|PICALM_ENST00000532317.1_Missense_Mutation_p.A478T			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	528					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGGAGTTTGGCAACAGGAAGG	0.403			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1561-1563)Gcc>Acc		phosphatidylinositol binding clathrin assembly protein							122.0	115.0	118.0					11																	85692981		2203	4299	6502	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85692981C>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1582G>A	11.37:g.85692981C>T	ENSP00000377015:p.Ala528Thr					PICALM_ENST00000528398.1_Missense_Mutation_p.A427T|PICALM_ENST00000393346.3_Missense_Mutation_p.A528T|PICALM_ENST00000356360.5_Missense_Mutation_p.A528T|PICALM_ENST00000532317.1_Missense_Mutation_p.A478T	p.A521T	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			15	1877	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	528					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.1561G>A	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.323997|2.323997	0.41096|0.41096	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360|ENST00000529760;ENST00000532603;ENST00000526961;ENST00000530542	T;T;T;T;T|.	0.35048|.	1.33;1.33;1.33;1.33;1.33|.	5.28|5.28	3.39|3.39	0.38822|0.38822	.|.	0.620199|.	0.16725|.	N|.	0.202107|.	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.34521|0.34521	1.04|1.04	0.30473|0.30473	N|N	0.773111|0.773111	B;B;B;B;B;B|.	0.30686|.	0.006;0.29;0.073;0.02;0.031;0.089|.	B;B;B;B;B;B|.	0.29785|.	0.01;0.107;0.044;0.06;0.021;0.046|.	T|T	0.30446|0.30446	-0.9978|-0.9978	9|5	.|.	.|.	.|.	-0.2179|-0.2179	7.9456|7.9456	0.29985|0.29985	0.4034:0.5245:0.0:0.072|0.4034:0.5245:0.0:0.072	.|.	427;105;528;521;528;478|.	E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3|.	.;.;.;.;PICAL_HUMAN;.|.	T|Y	478;521;528;528;427;528|175;29;131;225	ENSP00000436958:A478T;ENSP00000433846:A521T;ENSP00000377015:A528T;ENSP00000434884:A427T;ENSP00000348718:A528T|.	.|.	A|C	-|-	1|2	0|0	PICALM|PICALM	85370629|85370629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.116000|1.116000	0.31221|0.31221	0.710000|0.710000	0.31997|0.31997	0.591000|0.591000	0.81541|0.81541	GCC|TGC		0.403	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		5	75	0	0	0	1	0	5	75				
PDCD2	5134	broad.mit.edu	37	6	170889156	170889156	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170889156T>C	ENST00000541970.1	-	4	774	c.696A>G	c.(694-696)aaA>aaG	p.K232K	PDCD2_ENST00000542896.1_Silent_p.K232K|PDCD2_ENST00000392090.2_Silent_p.K199K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	232					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TGGATTCATGTTTTGCCATGG	0.393																																					Colon(60;1476 1726 39478)	ENST00000541970.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(694-696)aaA>aaG		programmed cell death 2							64.0	66.0	65.0					6																	170889156		2203	4300	6503	SO:0001819	synonymous_variant	5134				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:170889156T>C	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.696A>G	6.37:g.170889156T>C						PDCD2_ENST00000542896.1_Silent_p.K232K|PDCD2_ENST00000392090.2_Silent_p.K199K	p.K232K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)	4	774	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	232					E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Silent	SNP	ENST00000541970.1	37	c.696A>G	CCDS5316.1																																																																																				0.393	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		5	44	0	0	0	1	0	5	44				
MTUS1	57509	broad.mit.edu	37	8	17573323	17573323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17573323G>T	ENST00000262102.6	-	5	2761	c.2537C>A	c.(2536-2538)cCt>cAt	p.P846H	MTUS1_ENST00000381869.3_Missense_Mutation_p.P792H|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792H|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93H	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	846					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGATACCAAAGGCTTCAAATA	0.433																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2374-2376)cCt>cAt		microtubule associated tumor suppressor 1							165.0	158.0	160.0					8																	17573323		1839	4087	5926	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17573323G>T	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2537C>A	8.37:g.17573323G>T	ENSP00000262102:p.Pro846His					MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93H|MTUS1_ENST00000262102.6_Missense_Mutation_p.P846H|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792H	p.P792H	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	4	2848	-			846					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2375C>A	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991833	0.74703	.	.	ENSG00000129422	ENST00000381869;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T	0.36878	3.06;2.24;1.23;3.06	4.85	4.85	0.62838	.	0.415027	0.24988	N	0.034010	T	0.56381	0.1981	M	0.63428	1.95	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.989	D;D;P	0.64595	0.927;0.927;0.839	T	0.58295	-0.7661	10	0.62326	D	0.03	-10.1446	17.0319	0.86463	0.0:0.0:1.0:0.0	.	792;846;93	Q9ULD2-2;Q9ULD2;Q9ULD2-6	.;MTUS1_HUMAN;.	H	792;93;846;792	ENSP00000371293:P792H;ENSP00000371285:P93H;ENSP00000262102:P846H;ENSP00000430167:P792H	ENSP00000262102:P846H	P	-	2	0	MTUS1	17617603	1.000000	0.71417	0.965000	0.40720	0.951000	0.60555	5.607000	0.67648	2.623000	0.88846	0.655000	0.94253	CCT		0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		56	88	1	0	1.70205e-38	1	2.29419e-38	56	88				
MAP3K2	10746	broad.mit.edu	37	2	128072388	128072388	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128072388C>T	ENST00000409947.1	-	15	1680	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	MAP3K2_ENST00000344908.5_Silent_p.Q466Q|RNU6-1147P_ENST00000363380.1_RNA			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	CCTCCAGAATCTGACGGGTGT	0.343																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1396-1398)caG>caA		mitogen-activated protein kinase kinase kinase 2							104.0	100.0	101.0					2																	128072388		1828	4076	5904	SO:0001819	synonymous_variant	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128072388C>T	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1398G>A	2.37:g.128072388C>T						MAP3K2_ENST00000344908.5_Silent_p.Q466Q	p.Q466Q			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	15	1680	-	Colorectal(110;0.1)		466			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	c.1398G>A	CCDS46404.1																																																																																				0.343	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		7	15	0	0	0	1	0	7	15				
CAMKV	79012	broad.mit.edu	37	3	49898709	49898709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49898709G>A	ENST00000477224.1	-	6	944	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	CAMKV_ENST00000498324.1_5'Flank|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000488336.1_Missense_Mutation_p.R156W|CAMKV_ENST00000466940.1_Missense_Mutation_p.R113W|CAMKV_ENST00000467248.1_Missense_Mutation_p.R81W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R156W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R156W			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTTCAGCCGGTTGTAGTAA	0.527																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(466-468)Cgg>Tgg		CaM kinase-like vesicle-associated							87.0	81.0	83.0					3																	49898709		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898709G>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.466C>T	3.37:g.49898709G>A	ENSP00000419195:p.Arg156Trp					CAMKV_ENST00000466940.1_Missense_Mutation_p.R113W|CAMKV_ENST00000488336.1_Missense_Mutation_p.R156W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R156W|CAMKV_ENST00000467248.1_Missense_Mutation_p.R81W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R156W	p.R156W			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	6	944	-			156			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.466C>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258087	0.59321	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940;ENST00000480398	T;T;T;T;T;T;T	0.68181	2.73;2.73;-0.31;2.73;0.73;2.73;0.73	5.41	2.47	0.30058	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38837	N	0.001551	T	0.80454	0.4626	M	0.79614	2.46	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.986;0.993;0.985;0.985;0.986	T	0.80897	-0.1177	10	0.62326	D	0.03	.	13.9135	0.63883	0.0:0.0:0.5999:0.4001	.	113;119;156;156;156	E7ETR1;B4DMF2;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;CAMKV_HUMAN	W	156;156;156;156;81;113;69	ENSP00000296471:R156W;ENSP00000418809:R156W;ENSP00000417614:R156W;ENSP00000419195:R156W;ENSP00000420053:R81W;ENSP00000420724:R113W;ENSP00000420000:R69W	ENSP00000296471:R156W	R	-	1	2	CAMKV	49873713	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	3.319000	0.51983	0.192000	0.20272	0.655000	0.94253	CGG		0.527	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		10	29	0	0	0	1	0	10	29				
ZNF497	162968	broad.mit.edu	37	19	58868478	58868478	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868478G>A	ENST00000311044.3	-	3	712	c.524C>T	c.(523-525)tCg>tTg	p.S175L	ZNF497_ENST00000425453.3_Missense_Mutation_p.S175L|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GATGAGCTGCGAGTGCGCGCG	0.677																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(523-525)tCg>tTg		zinc finger protein 497							31.0	25.0	27.0					19																	58868478		2203	4299	6502	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868478G>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.524C>T	19.37:g.58868478G>A	ENSP00000311183:p.Ser175Leu					ZNF497_ENST00000425453.3_Missense_Mutation_p.S175L|CTD-2619J13.8_ENST00000599109.1_RNA	p.S175L	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	712	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	175					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.524C>T	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699813	0.48307	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.36699	1.24;1.24	0.62	0.62	0.17637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56514	0.1990	M	0.83483	2.645	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.42732	-0.9434	9	0.62326	D	0.03	.	8.6602	0.34088	0.0:0.0:1.0:0.0	.	175	Q6ZNH5	ZN497_HUMAN	L	175;175;20	ENSP00000311183:S175L;ENSP00000402815:S175L	ENSP00000311183:S175L	S	-	2	0	ZNF497	63560290	0.000000	0.05858	0.011000	0.14972	0.446000	0.32137	-1.241000	0.02911	0.576000	0.29452	0.205000	0.17691	TCG		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		8	8	0	0	0	1	0	8	8				
FLG2	388698	broad.mit.edu	37	1	152325372	152325372	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325372A>C	ENST00000388718.5	-	3	4962	c.4890T>G	c.(4888-4890)caT>caG	p.H1630Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1630					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGTGGGAATGTCCAGTGG	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4888-4890)caT>caG		filaggrin family member 2							402.0	355.0	371.0					1																	152325372		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325372A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4890T>G	1.37:g.152325372A>C	ENSP00000373370:p.His1630Gln					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1630Q	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4962	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1630					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4890T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	3.808	-0.040251	0.07497	.	.	ENSG00000143520	ENST00000388718	T	0.57907	0.37	4.29	-8.58	0.00897	.	.	.	.	.	T	0.15912	0.0383	L	0.58583	1.82	0.09310	N	1	B	0.19073	0.033	B	0.12156	0.007	T	0.13683	-1.0500	9	0.13108	T	0.6	-0.2829	5.3062	0.15805	0.2081:0.5783:0.0922:0.1215	.	1630	Q5D862	FILA2_HUMAN	Q	1630	ENSP00000373370:H1630Q	ENSP00000373370:H1630Q	H	-	3	2	FLG2	150591996	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.703000	0.01900	-1.062000	0.03181	0.391000	0.25812	CAT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	339	0	0	0	1	0	11	339				
RPL10	6134	broad.mit.edu	37	X	153627882	153627882	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627882T>G	ENST00000369817.2	+	5	713	c.137T>G	c.(136-138)tTt>tGt	p.F46C	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000424325.2_Missense_Mutation_p.F46C|SNORA70_ENST00000384436.1_RNA			P27635	RL10_HUMAN	ribosomal protein L10	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGATGAGTTTCCGCTTTGT	0.522											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(136-138)tTt>tGt		ribosomal protein L10							133.0	127.0	129.0					X																	153627882		2203	4300	6503	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627882T>G	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.137T>G	X.37:g.153627882T>G	ENSP00000358832:p.Phe46Cys		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Missense_Mutation_p.F46C	p.F46C	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	325	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		46					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.137T>G	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216980	0.58452	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000458500;ENST00000451365	T;T;T	0.80480	-1.38;-1.38;-1.38	5.07	3.9	0.45041	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	U	0.000000	D	0.93370	0.7886	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.985	D	0.92116	0.5700	10	0.87932	D	0	-14.8068	8.2713	0.31846	0.0:0.0965:0.0:0.9035	.	46;46	A6QRI9;P27635	.;RL10_HUMAN	C	46;46;46;46;46;29	ENSP00000358832:F46C;ENSP00000413436:F46C;ENSP00000341730:F46C	ENSP00000341730:F46C	F	+	2	0	RPL10	153281076	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	7.443000	0.80521	0.597000	0.29811	-0.335000	0.08231	TTT		0.522	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		18	113	0	0	0	1	0	18	113				
C19orf66	55337	broad.mit.edu	37	19	10200023	10200023	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10200023A>G	ENST00000253110.11	+	4	493				CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Intron|C19orf66_ENST00000397881.3_Missense_Mutation_p.H4R	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66											large_intestine(3)|skin(1)	4						ATGTCACAACATCAACAAGCA	0.547																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(10-12)cAt>cGt		chromosome 19 open reading frame 66							71.0	60.0	63.0					19																	10200023		876	1991	2867	SO:0001627	intron_variant	55337							g.chr19:10200023A>G		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.196-310A>G	19.37:g.10200023A>G						CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Intron|C19orf66_ENST00000591813.1_Intron	p.H4R			Q9NUL5	CS066_HUMAN			3	488	+			0					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Missense_Mutation	SNP	ENST00000253110.11	37	c.11A>G	CCDS45957.1	.	.	.	.	.	.	.	.	.	.	A	9.021	0.984821	0.18889	.	.	ENSG00000130813	ENST00000397881	.	.	.	2.21	1.1	0.20463	.	.	.	.	.	T	0.27027	0.0662	.	.	.	0.09310	N	1	B	0.25272	0.122	B	0.12837	0.008	T	0.25257	-1.0137	7	0.87932	D	0	.	3.6034	0.08032	0.3004:0.0:0.6996:0.0	.	4	Q9NUL5-2	.	R	4	.	ENSP00000380978:H4R	H	+	2	0	C19orf66	10061023	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.229000	0.17833	0.391000	0.25143	0.482000	0.46254	CAT		0.547	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		7	17	0	0	0	1	0	7	17				
FAM71B	153745	broad.mit.edu	37	5	156589951	156589951	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589951T>G	ENST00000302938.4	-	2	1420	c.1325A>C	c.(1324-1326)aAa>aCa	p.K442T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	442						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGAACTTTTCCTACTGGG	0.502																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1324-1326)aAa>aCa		family with sequence similarity 71, member B							164.0	156.0	159.0					5																	156589951		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589951T>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1325A>C	5.37:g.156589951T>G	ENSP00000305596:p.Lys442Thr						p.K442T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1420	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	442					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1325A>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294534	0.81025	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	4.5	3.34	0.38264	.	0.000000	0.43747	D	0.000530	T	0.31420	0.0796	M	0.72118	2.19	0.31030	N	0.717566	D	0.64830	0.994	P	0.52554	0.702	T	0.37407	-0.9707	10	0.72032	D	0.01	-15.5449	7.2848	0.26333	0.0:0.104:0.0:0.896	.	442	Q8TC56	FA71B_HUMAN	T	442	ENSP00000305596:K442T	ENSP00000305596:K442T	K	-	2	0	FAM71B	156522529	0.993000	0.37304	0.993000	0.49108	0.656000	0.38851	0.734000	0.26101	0.832000	0.34804	0.459000	0.35465	AAA		0.502	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		5	139	0	0	0	1	0	5	139				
PKP1	5317	broad.mit.edu	37	1	201292216	201292216	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201292216G>A	ENST00000352845.3	+	10	1642	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	PKP1_ENST00000263946.3_Missense_Mutation_p.A548T|PKP1_ENST00000367324.3_Missense_Mutation_p.A527T			Q13835	PKP1_HUMAN	plakophilin 1	548					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCATTCAGATGCCATCCGCAC	0.582																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1642-1644)Gcc>Acc		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							157.0	154.0	155.0					1																	201292216		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201292216G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1642G>A	1.37:g.201292216G>A	ENSP00000295597:p.Ala548Thr					PKP1_ENST00000367324.3_Missense_Mutation_p.A527T|PKP1_ENST00000352845.3_Missense_Mutation_p.A548T	p.A548T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			10	1893	+			548					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.1642G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440869	0.63067	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.75260	-0.92;-0.92;-0.92	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.047792	0.85682	D	0.000000	T	0.74253	0.3692	L	0.35723	1.085	0.53688	D	0.999975	B;P;D	0.54397	0.328;0.734;0.966	B;B;P	0.49752	0.321;0.391;0.621	T	0.75004	-0.3470	10	0.44086	T	0.13	-9.462	19.0682	0.93122	0.0:0.0:1.0:0.0	.	135;527;548	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	T	527;548;548	ENSP00000356293:A527T;ENSP00000263946:A548T;ENSP00000295597:A548T	ENSP00000263946:A548T	A	+	1	0	PKP1	199558839	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.162000	0.64942	2.571000	0.86741	0.591000	0.81541	GCC		0.582	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		43	103	0	0	0	1	0	43	103				
ALPK3	57538	broad.mit.edu	37	15	85400565	85400565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85400565A>G	ENST00000258888.5	+	6	3369	c.3202A>G	c.(3202-3204)Acg>Gcg	p.T1068A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1068					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGGTACCCACGATGCCTTC	0.652																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3202-3204)Acg>Gcg		alpha-kinase 3							68.0	53.0	58.0					15																	85400565		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400565A>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3202A>G	15.37:g.85400565A>G	ENSP00000258888:p.Thr1068Ala						p.T1068A	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3369	+			1068					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3202A>G	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797595	0.31777	.	.	ENSG00000136383	ENST00000258888	T	0.59772	0.24	4.76	-3.11	0.05299	.	5.155910	0.00357	N	0.000039	T	0.37210	0.0995	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11155	-1.0599	10	0.19147	T	0.46	0.1773	5.5639	0.17160	0.3639:0.4531:0.1831:0.0	.	1068	Q96L96	ALPK3_HUMAN	A	1068	ENSP00000258888:T1068A	ENSP00000258888:T1068A	T	+	1	0	ALPK3	83201569	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.783000	0.04638	-0.348000	0.08286	0.460000	0.39030	ACG		0.652	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		6	24	0	0	0	1	0	6	24				
KIAA1109	84162	broad.mit.edu	37	4	123109181	123109181	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123109181G>A	ENST00000264501.4	+	9	1132	c.759G>A	c.(757-759)aaG>aaA	p.K253K	KIAA1109_ENST00000455637.1_Silent_p.K253K|KIAA1109_ENST00000388738.3_Silent_p.K253K			Q2LD37	K1109_HUMAN	KIAA1109	253					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGAAAGGAAAGCTTGAAAATG	0.323																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(757-759)aaG>aaA		KIAA1109							109.0	99.0	102.0					4																	123109181		1846	4095	5941	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123109181G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.759G>A	4.37:g.123109181G>A						KIAA1109_ENST00000455637.1_Silent_p.K253K|KIAA1109_ENST00000388738.3_Silent_p.K253K	p.K253K			Q2LD37	K1109_HUMAN			9	1132	+			253					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.759G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039868	0.19669	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.44	2.09	0.27110	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44143	-0.9347	4	.	.	.	.	5.927	0.19118	0.6535:0.0:0.3465:0.0	.	.	.	.	T	86	.	.	A	+	1	0	KIAA1109	123328631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.747000	0.38298	0.562000	0.29204	0.561000	0.74099	GCT		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	62	0	0	0	1	0	4	62				
PCBP4	57060	broad.mit.edu	37	3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51993277G>A	ENST00000461554.1	-	11	999	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	223						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(667-669)gCg>gTg		poly(rC) binding protein 4							94.0	72.0	79.0					3																	51993277		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51993277G>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.668C>T	3.37:g.51993277G>A	ENSP00000417196:p.Ala223Val					PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V	p.A223V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	11	999	-			223					Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.668C>T	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031765	0.35797	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192	T;T;T;T;T;T;T;T	0.33438	1.45;1.45;1.45;1.46;1.44;1.46;1.41;1.89	4.63	4.63	0.57726	.	0.195197	0.45126	D	0.000396	T	0.21103	0.0508	L	0.29908	0.895	0.39559	D	0.969099	B;B;B;B;B;P	0.37731	0.211;0.023;0.051;0.059;0.448;0.607	B;B;B;B;B;B	0.32289	0.03;0.009;0.02;0.02;0.058;0.143	T	0.07654	-1.0761	10	0.27082	T	0.32	-4.7424	14.7621	0.69612	0.0:0.0:1.0:0.0	.	223;180;63;223;244;189	C9J0A4;P57723-2;B3KM64;P57723;Q9GZT1;Q9HCU2	.;.;.;PCBP4_HUMAN;.;.	V	223;223;223;180;63;180;244;223;223	ENSP00000348111:A223V;ENSP00000322341:A223V;ENSP00000417196:A223V;ENSP00000417100:A180V;ENSP00000378460:A63V;ENSP00000395030:A180V;ENSP00000378461:A244V;ENSP00000418925:A223V	ENSP00000294192:A223V	A	-	2	0	PCBP4	51968317	0.770000	0.28543	0.909000	0.35828	0.979000	0.70002	4.684000	0.61686	2.271000	0.75665	0.563000	0.77884	GCG		0.637	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		13	33	0	0	0	1	0	13	33				
KDM6B	23135	broad.mit.edu	37	17	7751261	7751261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7751261G>A	ENST00000448097.2	+	11	1986	c.1655G>A	c.(1654-1656)aGc>aAc	p.S552N	KDM6B_ENST00000254846.5_Missense_Mutation_p.S552N			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	552	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAACCACcagcagtagcaac	0.637																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1654-1656)aGc>aAc		lysine (K)-specific demethylase 6B							37.0	42.0	40.0					17																	7751261		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751261G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1655G>A	17.37:g.7751261G>A	ENSP00000412513:p.Ser552Asn					KDM6B_ENST00000448097.2_Missense_Mutation_p.S552N	p.S552N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2044	+			552			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1655G>A		.	.	.	.	.	.	.	.	.	.	G	7.374	0.627387	0.14257	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08896	3.04;3.04	3.84	-1.56	0.08532	.	1.141820	0.06689	N	0.769390	T	0.05502	0.0145	N	0.14661	0.345	0.24949	N	0.991803	B	0.18310	0.027	B	0.17098	0.017	T	0.44298	-0.9337	10	0.38643	T	0.18	.	9.2215	0.37379	0.1063:0.6431:0.2506:0.0	.	552	O15054-1	.	N	552	ENSP00000254846:S552N;ENSP00000412513:S552N	ENSP00000254846:S552N	S	+	2	0	KDM6B	7691986	1.000000	0.71417	0.808000	0.32385	0.957000	0.61999	0.581000	0.23819	0.022000	0.15160	0.491000	0.48974	AGC		0.637	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		13	25	0	0	0	1	0	13	25				
TSHR	7253	broad.mit.edu	37	14	81422079	81422079	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422079C>A	ENST00000541158.2	+	2	377	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	TSHR_ENST00000554263.1_Missense_Mutation_p.L19M|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000342443.6_Missense_Mutation_p.L19M|TSHR_ENST00000554435.1_Missense_Mutation_p.L19M|TSHR_ENST00000298171.2_Missense_Mutation_p.L19M			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	19					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCCCAGGGACCTGGGCGGAAT	0.612			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(55-57)Ctg>Atg		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						92.0	90.0	91.0					14																	81422079		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81422079C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.55C>A	14.37:g.81422079C>A	ENSP00000441235:p.Leu19Met					TSHR_ENST00000342443.6_Missense_Mutation_p.L19M|TSHR_ENST00000298171.2_Missense_Mutation_p.L19M|TSHR_ENST00000554263.1_Missense_Mutation_p.L19M|TSHR_ENST00000554435.1_Missense_Mutation_p.L19M|TSHR_ENST00000557096.1_3'UTR	p.L19M			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	2	377	+			19					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.55C>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939182	0.52972	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	T;D;T;D;D	0.87334	-1.1;-2.24;-1.1;-2.24;-2.24	5.2	2.08	0.27032	.	1.247460	0.05705	N	0.594874	D	0.87212	0.6121	N	0.24115	0.695	0.09310	N	1	D;P;P;P	0.76494	0.999;0.514;0.828;0.61	D;B;P;B	0.67548	0.952;0.283;0.576;0.3	T	0.76694	-0.2865	10	0.34782	T	0.22	.	7.2545	0.26168	0.0:0.643:0.2613:0.0958	.	19;19;19;19	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	M	19	ENSP00000441235:L19M;ENSP00000340113:L19M;ENSP00000298171:L19M;ENSP00000451202:L19M;ENSP00000450549:L19M	ENSP00000298171:L19M	L	+	1	2	TSHR	80491832	0.017000	0.18338	0.021000	0.16686	0.079000	0.17450	0.597000	0.24059	1.186000	0.42985	0.655000	0.94253	CTG		0.612	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		8	80	1	0	5.18039e-06	1	5.91835e-06	8	80				
PTGS1	5742	broad.mit.edu	37	9	125154616	125154616	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125154616G>T	ENST00000362012.2	+	11	1598	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	PTGS1_ENST00000373698.5_Missense_Mutation_p.K422N|PTGS1_ENST00000223423.4_Missense_Mutation_p.K494N|PTGS1_ENST00000540753.1_Missense_Mutation_p.K469N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	531					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTCCCTCAAGGGTCTCCTAG	0.512																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1591-1593)aaG>aaT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						103.0	106.0	105.0					9																	125154616		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154616G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1593G>T	9.37:g.125154616G>T	ENSP00000354612:p.Lys531Asn					PTGS1_ENST00000223423.4_Missense_Mutation_p.K494N|PTGS1_ENST00000373698.5_Missense_Mutation_p.K422N|PTGS1_ENST00000540753.1_Missense_Mutation_p.K469N	p.K531N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1598	+			531					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1593G>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542110	0.65198	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.41	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.91663	3.23	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.994	D	0.84845	0.0810	10	0.87932	D	0	-32.3498	8.8669	0.35291	0.1776:0.0:0.8224:0.0	.	469;531;494	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	N	469;531;494;422	ENSP00000437709:K469N;ENSP00000354612:K531N;ENSP00000223423:K494N;ENSP00000362802:K422N	ENSP00000223423:K494N	K	+	3	2	PTGS1	124194437	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.101000	0.41787	1.194000	0.43101	-0.345000	0.07892	AAG		0.512	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			11	108	1	0	2.27111e-07	1	2.66951e-07	11	108				
ANKMY2	57037	broad.mit.edu	37	7	16642112	16642112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642112C>T	ENST00000306999.2	-	9	1277	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	345						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGTTTTCTGGCAGGTTTGATC	0.363																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1033-1035)tGc>tAc		ankyrin repeat and MYND domain containing 2							141.0	139.0	139.0					7																	16642112		2202	4300	6502	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16642112C>T	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1034G>A	7.37:g.16642112C>T	ENSP00000303570:p.Cys345Tyr						p.C345Y	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	9	1277	-	Lung NSC(10;0.103)|all_lung(11;0.204)		345					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.1034G>A	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357802	0.82243	.	.	ENSG00000106524	ENST00000306999	D	0.96856	-4.15	5.27	5.27	0.74061	Zinc finger, MYND-type (3);	0.040846	0.85682	D	0.000000	D	0.99105	0.9692	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98951	1.0794	10	0.87932	D	0	-14.643	18.8949	0.92419	0.0:1.0:0.0:0.0	.	345	Q8IV38	ANKY2_HUMAN	Y	345	ENSP00000303570:C345Y	ENSP00000303570:C345Y	C	-	2	0	ANKMY2	16608637	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.487000	0.81328	2.457000	0.83068	0.563000	0.77884	TGC		0.363	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		75	83	0	0	0	1	0	75	83				
ERRFI1	54206	broad.mit.edu	37	1	8074335	8074335	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8074335C>A	ENST00000377482.5	-	4	547	c.324G>T	c.(322-324)gaG>gaT	p.E108D	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	108					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAACTTGATCCTCTTCATGTG	0.473																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(322-324)gaG>gaT		ERBB receptor feedback inhibitor 1							133.0	135.0	134.0					1																	8074335		2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074335C>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.324G>T	1.37:g.8074335C>A	ENSP00000366702:p.Glu108Asp					ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.E108D	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	547	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	108					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.324G>T	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	8.103	0.777157	0.16120	.	.	ENSG00000116285	ENST00000377482	T	0.74209	-0.82	5.46	4.49	0.54785	.	0.224693	0.44483	D	0.000450	T	0.57489	0.2057	L	0.37897	1.145	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.50541	-0.8816	10	0.13853	T	0.58	-0.0254	5.6466	0.17592	0.0:0.5428:0.3001:0.1572	.	108	Q9UJM3	ERRFI_HUMAN	D	108	ENSP00000366702:E108D	ENSP00000366702:E108D	E	-	3	2	ERRFI1	7996922	1.000000	0.71417	0.123000	0.21794	0.294000	0.27393	0.916000	0.28651	2.542000	0.85734	0.655000	0.94253	GAG		0.473	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		12	167	1	0	0.00136819	1	0.00146042	12	167				
PIGX	54965	broad.mit.edu	37	3	196454886	196454886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196454886G>T	ENST00000421265.1	+	4	341	c.288G>T	c.(286-288)caG>caT	p.Q96H	PIGX_ENST00000314118.4_Missense_Mutation_p.Q96H|PIGX_ENST00000541663.1_Missense_Mutation_p.Q29H			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	137					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GAGATTCACAGTGCATTGACT	0.448																																						ENST00000314118.4																			0				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11						c.(286-288)caG>caT		phosphatidylinositol glycan anchor biosynthesis, class X							141.0	134.0	137.0					3																	196454886		2203	4300	6503	SO:0001583	missense	54965				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr3:196454886G>T	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.288G>T	3.37:g.196454886G>T	ENSP00000416446:p.Gln96His					PIGX_ENST00000421265.1_Missense_Mutation_p.Q96H|PIGX_ENST00000541663.1_Missense_Mutation_p.Q29H	p.Q96H	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)	4	570	+	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		137					Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37	c.288G>T		.	.	.	.	.	.	.	.	.	.	G	10.91	1.484157	0.26598	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000541663;ENST00000451319	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.55	3.77	0.43336	.	0.450398	0.22324	N	0.061550	T	0.24314	0.0589	L	0.47716	1.5	0.29682	N	0.841622	P;B	0.35527	0.507;0.171	B;B	0.33121	0.158;0.116	T	0.13308	-1.0514	10	0.44086	T	0.13	-3.9896	7.8993	0.29725	0.253:0.0:0.747:0.0	.	137;137	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	H	96;137;96;137;96;29;96	ENSP00000409073:Q96H;ENSP00000376192:Q137H;ENSP00000317301:Q96H;ENSP00000296333:Q137H;ENSP00000416446:Q96H;ENSP00000443269:Q29H;ENSP00000390804:Q96H	ENSP00000296333:Q137H	Q	+	3	2	PIGX	197939283	0.998000	0.40836	0.996000	0.52242	0.719000	0.41307	1.556000	0.36288	0.713000	0.32060	-0.136000	0.14681	CAG		0.448	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861		4	112	1	0	5.9392e-07	1	6.91975e-07	4	112				
CAD	790	broad.mit.edu	37	2	27461971	27461971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27461971G>T	ENST00000403525.1	+	31	5079	c.4935G>T	c.(4933-4935)gaG>gaT	p.E1645D	CAD_ENST00000264705.4_Missense_Mutation_p.E1708D			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	146					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGTTAGAGACCATGCTGC	0.602																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(5122-5124)gaG>gaT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						58.0	59.0	59.0					2																	27461971		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27461971G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4935G>T	2.37:g.27461971G>T	ENSP00000384510:p.Glu1645Asp					CAD_ENST00000403525.1_Missense_Mutation_p.E1645D	p.E1708D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			32	5286	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1708			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.5124G>T		.	.	.	.	.	.	.	.	.	.	G	19.92	3.916727	0.73098	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.44881	0.91;0.91	5.02	3.22	0.36961	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.79258	2.445	0.58432	D	0.999999	B;D	0.69078	0.103;0.997	B;D	0.79108	0.276;0.992	T	0.61392	-0.7072	10	0.56958	D	0.05	-0.094	10.0464	0.42188	0.1655:0.0:0.8345:0.0	.	1645;1708	F8VPD4;P27708	.;PYR1_HUMAN	D	1708;1645	ENSP00000264705:E1708D;ENSP00000384510:E1645D	ENSP00000264705:E1708D	E	+	3	2	CAD	27315475	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.694000	0.54742	0.526000	0.28541	0.462000	0.41574	GAG		0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			5	55	1	0	0.0215528	1	0.0221649	5	55				
BAIAP2L2	80115	broad.mit.edu	37	22	38493048	38493048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38493048G>T	ENST00000381669.3	-	7	747	c.603C>A	c.(601-603)ttC>ttA	p.F201L	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.F201L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	201	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCCGGCCGAAGAACTGCAGGA	0.602																																						ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(601-603)ttC>ttA		BAI1-associated protein 2-like 2							24.0	31.0	29.0					22																	38493048		1935	4148	6083	SO:0001583	missense	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38493048G>T	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.603C>A	22.37:g.38493048G>T	ENSP00000371085:p.Phe201Leu					BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.F201L	p.F201L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN			7	747	-	Melanoma(58;0.045)		201			IMD.		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	c.603C>A	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361281	0.61403	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	4.78	1.39	0.22231	IRSp53/MIM homology domain (IMD) (3);	0.114032	0.64402	D	0.000009	T	0.64091	0.2567	L	0.46614	1.455	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.60806	-0.7190	9	0.54805	T	0.06	-11.7031	9.3451	0.38104	0.3821:0.0:0.6179:0.0	.	201	Q6UXY1	BI2L2_HUMAN	L	201	.	ENSP00000328876:F201L	F	-	3	2	BAIAP2L2	36822994	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.477000	0.22196	0.091000	0.17302	0.462000	0.41574	TTC		0.602	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		5	12	1	0	0.014758	1	0.0152625	5	12				
LRP1B	53353	broad.mit.edu	37	2	141072547	141072547	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072547G>A	ENST00000389484.3	-	83	13733	c.12762C>T	c.(12760-12762)agC>agT	p.S4254S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4254	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAGTAGTTGCTACAGTGGT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12760-12762)agC>agT		low density lipoprotein receptor-related protein 1B							141.0	131.0	135.0					2																	141072547		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072547G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12762C>T	2.37:g.141072547G>A		TSP Lung(27;0.18)					p.S4254S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13733	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4254			EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12762C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.193979	0.22037	.	.	ENSG00000168702	ENST00000437977	.	.	.	5.9	4.05	0.47172	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52895	-0.8514	4	.	.	.	.	5.7311	0.18040	0.2069:0.0:0.6542:0.1389	.	.	.	.	V	486	.	.	A	-	2	0	LRP1B	140789017	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.885000	0.28227	1.511000	0.48818	0.655000	0.94253	GCA		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	33	0	0	0	1	0	16	33				
UBL5	59286	broad.mit.edu	37	19	9939539	9939539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9939539C>A	ENST00000358666.3	+	4	351	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	UBL5_ENST00000586895.1_Missense_Mutation_p.S56Y|UBL5_ENST00000589960.1_Intron|UBL5_ENST00000590068.1_Missense_Mutation_p.S56Y|UBL5_ENST00000593087.1_Missense_Mutation_p.L27I|FBXL12_ENST00000585379.1_5'Flank	NM_024292.3	NP_077268.1	Q9BZL1	UBL5_HUMAN	ubiquitin-like 5	56	Ubiquitin-like.					cytoplasm (GO:0005737)				kidney(1)|lung(1)	2						GACCACGTGTCTCTGGGGGAC	0.438																																						ENST00000358666.3																			0				kidney(1)|lung(1)	2						c.(166-168)tCt>tAt		ubiquitin-like 5							174.0	159.0	164.0					19																	9939539		2203	4300	6503	SO:0001583	missense	59286					cytoplasm		g.chr19:9939539C>A		CCDS12219.1	19p13.2	2012-11-23			ENSG00000198258	ENSG00000198258			13736	protein-coding gene	gene with protein product		606849					Standard	NM_024292		Approved		uc002mmi.2	Q9BZL1	OTTHUMG00000180214	ENST00000358666.3:c.167C>A	19.37:g.9939539C>A	ENSP00000351492:p.Ser56Tyr					UBL5_ENST00000590068.1_Missense_Mutation_p.S56Y|UBL5_ENST00000593087.1_Missense_Mutation_p.L27I|UBL5_ENST00000589960.1_Intron|UBL5_ENST00000586895.1_Missense_Mutation_p.S56Y	p.S56Y	NM_024292.3	NP_077268.1	Q9BZL1	UBL5_HUMAN			4	351	+			56			Ubiquitin-like.		Q2NL89	Missense_Mutation	SNP	ENST00000358666.3	37	c.167C>A	CCDS12219.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709631	0.68730	.	.	ENSG00000198258	ENST00000358666	T	0.74526	-0.85	4.48	3.32	0.38043	Ubiquitin (1);	0.338132	0.29676	N	0.011491	T	0.69762	0.3147	.	.	.	0.22001	N	0.999422	B	0.31931	0.347	B	0.41412	0.356	T	0.60311	-0.7288	8	.	.	.	-3.796	12.3839	0.55322	0.0:0.7832:0.2168:0.0	.	56	Q9BZL1	UBL5_HUMAN	Y	56	ENSP00000351492:S56Y	.	S	+	2	0	UBL5	9800539	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.596000	0.61055	1.066000	0.40716	0.561000	0.74099	TCT		0.438	UBL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450279.1	NM_024292		36	99	1	0	1.89013e-27	1	2.52243e-27	36	99				
IMPDH1	3614	broad.mit.edu	37	7	128040230	128040230	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128040230T>C	ENST00000480861.1	-	6	600	c.523A>G	c.(523-525)Acg>Gcg	p.T175A	IMPDH1_ENST00000378717.4_Missense_Mutation_p.T196A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T232A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T155A|IMPDH1_ENST00000338791.6_Missense_Mutation_p.T265A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T155A|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T255A|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T179A|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T229A	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ATCCTTGGCGTCATCACCTGT	0.572																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(793-795)Acg>Gcg		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						130.0	126.0	127.0					7																	128040230		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128040230T>C		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.523A>G	7.37:g.128040230T>C	ENSP00000420185:p.Thr175Ala					IMPDH1_ENST00000354269.5_Missense_Mutation_p.T255A|IMPDH1_ENST00000480861.1_Missense_Mutation_p.T175A|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T229A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T155A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T155A|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T179A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T232A|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T196A	p.T265A	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			9	1143	-			180						Missense_Mutation	SNP	ENST00000480861.1	37	c.793A>G	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386388	0.82902	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868;ENST00000489263	D;D;D;D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.15	5.15	0.70609	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (2);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.88450	2.955	0.58432	D	0.999998	D;P;D;P;P;B;B;P	0.76494	0.997;0.847;0.999;0.847;0.918;0.092;0.126;0.816	D;P;D;P;D;B;B;P	0.91635	0.996;0.808;0.999;0.687;0.917;0.092;0.243;0.709	D	0.98093	1.0410	10	0.87932	D	0	-15.8752	12.9548	0.58421	0.0:0.0:0.0:1.0	.	232;175;180;196;255;229;265;155	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	A	232;265;155;255;196;229;155;179;175;196;171	ENSP00000399400:T232A;ENSP00000345096:T265A;ENSP00000420803:T155A;ENSP00000346219:T255A;ENSP00000367989:T196A;ENSP00000265385:T229A;ENSP00000342438:T155A;ENSP00000417296:T179A;ENSP00000420185:T175A;ENSP00000419609:T196A	ENSP00000345096:T265A	T	-	1	0	IMPDH1	127827466	1.000000	0.71417	0.994000	0.49952	0.802000	0.45316	6.010000	0.70753	1.953000	0.56701	0.459000	0.35465	ACG		0.572	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		57	122	0	0	0	1	0	57	122				
ANKRD44	91526	broad.mit.edu	37	2	197990716	197990716	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197990716T>C	ENST00000328737.2	-	5	308	c.232A>G	c.(232-234)Agg>Ggg	p.R78G	ANKRD44_ENST00000450567.1_Missense_Mutation_p.R78G|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R78G|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R95G|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R31G			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	103										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCTTGTCCCTTGCATTGACA	0.468																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(232-234)Agg>Ggg		ankyrin repeat domain 44							172.0	158.0	163.0					2																	197990716		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990716T>C	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.232A>G	2.37:g.197990716T>C	ENSP00000331516:p.Arg78Gly					ANKRD44_ENST00000409153.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R95G|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R31G|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R78G|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R78G|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R103G	p.R78G			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	308	-			103					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.232A>G		.	.	.	.	.	.	.	.	.	.	T	19.53	3.844646	0.71488	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.22;-0.33	5.46	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.60067	1.865	0.48632	D	0.999686	D;D	0.69078	0.997;0.992	D;D	0.71656	0.972;0.974	T	0.69573	-0.5109	10	0.14656	T	0.56	.	12.1142	0.53856	0.0:0.0:0.5312:0.4688	.	31;103	F5H682;Q8N8A2-3	.;.	G	95;78;78;78;103;31;103	ENSP00000282272:R95G;ENSP00000331516:R78G;ENSP00000402420:R78G;ENSP00000338794:R78G;ENSP00000387141:R103G;ENSP00000437825:R31G;ENSP00000387233:R103G	ENSP00000282272:R95G	R	-	1	2	ANKRD44	197698961	1.000000	0.71417	0.906000	0.35671	0.929000	0.56500	4.714000	0.61902	1.068000	0.40764	-0.313000	0.08912	AGG		0.468	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		11	102	0	0	0	1	0	11	102				
SPATS2	65244	broad.mit.edu	37	12	49918607	49918607	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49918607A>C	ENST00000553127.1	+	14	1767	c.1254A>C	c.(1252-1254)aaA>aaC	p.K418N	SPATS2_ENST00000321898.6_Missense_Mutation_p.K418N|SPATS2_ENST00000552918.1_Missense_Mutation_p.K418N			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	418						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTAACAAGAAAAACTTTGCAC	0.532																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(1252-1254)aaA>aaC		spermatogenesis associated, serine-rich 2							108.0	105.0	106.0					12																	49918607		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49918607A>C	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1254A>C	12.37:g.49918607A>C	ENSP00000448228:p.Lys418Asn					SPATS2_ENST00000552918.1_Missense_Mutation_p.K418N|SPATS2_ENST00000321898.6_Missense_Mutation_p.K418N	p.K418N			Q86XZ4	SPAS2_HUMAN			14	1767	+			418					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.1254A>C	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278162	0.40294	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.3	2.91	0.33838	.	0.252947	0.41712	D	0.000832	T	0.41581	0.1165	L	0.34521	1.04	0.58432	D	0.999992	P	0.46706	0.883	B	0.44224	0.444	T	0.26780	-1.0093	9	0.72032	D	0.01	-10.1098	7.1875	0.25806	0.7432:0.0:0.2568:0.0	.	418	Q86XZ4	SPAS2_HUMAN	N	418	.	ENSP00000326841:K418N	K	+	3	2	SPATS2	48204874	0.620000	0.27068	0.975000	0.42487	0.692000	0.40212	0.790000	0.26900	0.411000	0.25702	0.533000	0.62120	AAA		0.532	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		30	38	0	0	0	1	0	30	38				
CEP170B	283638	broad.mit.edu	37	14	105352885	105352885	+	Missense_Mutation	SNP	G	G	A	rs60001925|rs150426191	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105352885G>A	ENST00000414716.3	+	12	2537	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	CEP170B_ENST00000453495.1_Missense_Mutation_p.R771H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R700H|CEP170B_ENST00000556508.1_Missense_Mutation_p.R700H	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	770						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GACAGCAGACGCAGGAGCCCC	0.692																																						ENST00000453495.1																			0											c.(2311-2313)cGc>cAc		centrosomal protein 170B							7.0	9.0	8.0					14																	105352885		1837	3991	5828	SO:0001583	missense	283638							g.chr14:105352885G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2309G>A	14.37:g.105352885G>A	ENSP00000404151:p.Arg770His					CEP170B_ENST00000418279.1_Missense_Mutation_p.R700H|CEP170B_ENST00000556508.1_Missense_Mutation_p.R700H|CEP170B_ENST00000414716.3_Missense_Mutation_p.R770H	p.R771H							12	2540	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2312G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	4.430	0.079604	0.08533	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.93	-1.94	0.07571	.	0.390461	0.18415	N	0.141952	T	0.28863	0.0716	L	0.36672	1.1	0.09310	N	1	B;B;B	0.20887	0.025;0.013;0.049	B;B;B	0.12156	0.007;0.002;0.007	T	0.08659	-1.0711	10	0.40728	T	0.16	-6.7523	3.9666	0.09434	0.3235:0.0:0.5125:0.1639	.	770;770;700	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	H	700;770;771;700	ENSP00000451249:R700H;ENSP00000404151:R770H;ENSP00000407238:R771H;ENSP00000415006:R700H	ENSP00000404151:R770H	R	+	2	0	KIAA0284	104423930	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.940000	0.01543	-0.701000	0.05063	-1.130000	0.01982	CGC		0.692	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	4	0	0	0	1	0	4	4				
OPTC	26254	broad.mit.edu	37	1	203472684	203472684	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203472684C>T	ENST00000367222.2	+	7	951	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	279					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGAATAACCTGATAGAGAC	0.562																																						ENST00000367222.2																			0				breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20						c.(835-837)Ctg>Ttg		opticin							91.0	86.0	88.0					1																	203472684		2203	4300	6503	SO:0001819	synonymous_variant	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472684C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.835C>T	1.37:g.203472684C>T							p.L279L	NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	951	+			279					Q5T2G4	Silent	SNP	ENST00000367222.2	37	c.835C>T	CCDS1439.1																																																																																				0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		13	61	0	0	0	1	0	13	61				
PLCH1	23007	broad.mit.edu	37	3	155210521	155210521	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155210521G>A	ENST00000340059.7	-	17	2267	c.2268C>T	c.(2266-2268)ggC>ggT	p.G756G	PLCH1_ENST00000447496.2_Silent_p.G756G|PLCH1_ENST00000414191.1_Silent_p.G738G|PLCH1_ENST00000460012.1_Silent_p.G738G|PLCH1_ENST00000334686.6_Silent_p.G738G|PLCH1_ENST00000494598.1_Silent_p.G756G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	756	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTTACCTCGCCTCGATCTC	0.438																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2212-2214)ggC>ggT		phospholipase C, eta 1							146.0	118.0	128.0					3																	155210521		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155210521G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2268C>T	3.37:g.155210521G>A						PLCH1_ENST00000334686.6_Silent_p.G738G|PLCH1_ENST00000340059.7_Silent_p.G756G|PLCH1_ENST00000414191.1_Silent_p.G738G|PLCH1_ENST00000447496.2_Silent_p.G756G|PLCH1_ENST00000494598.1_Silent_p.G756G	p.G738G			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		18	2571	-			756			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2214C>T	CCDS46939.1																																																																																				0.438	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		30	28	0	0	0	1	0	30	28				
PITX2	5308	broad.mit.edu	37	4	111539701	111539701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539701G>T	ENST00000354925.2	-	7	2239	c.534C>A	c.(532-534)aaC>aaA	p.N178K	PITX2_ENST00000394598.2_Missense_Mutation_p.N178K|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394595.3_Missense_Mutation_p.L110M|PITX2_ENST00000355080.5_Missense_Mutation_p.N132K|PITX2_ENST00000306732.3_Missense_Mutation_p.N185K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	178					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGCGGCCCAGTTGTTGTAGG	0.552																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(532-534)aaC>aaA		paired-like homeodomain 2							79.0	69.0	72.0					4																	111539701		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539701G>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.534C>A	4.37:g.111539701G>T	ENSP00000347004:p.Asn178Lys					PITX2_ENST00000306732.3_Missense_Mutation_p.N185K|PITX2_ENST00000394598.2_Missense_Mutation_p.N178K|PITX2_ENST00000394595.3_Missense_Mutation_p.L110M|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.N132K	p.N178K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2239	-		Hepatocellular(203;0.217)	178					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.534C>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.462077|2.462077	0.43736|0.43736	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049	.|D;D;D;D;D;T	.|0.93426	.|-2.88;-3.01;-3.15;-3.01;-3.22;-0.87	4.89|4.89	4.04|4.04	0.47022|0.47022	.|.	.|0.184033	.|0.56097	.|D	.|0.000023	D|D	0.96074|0.96074	0.8721|0.8721	M|M	0.81802|0.81802	2.56|2.56	0.31746|0.31746	N|N	0.635164|0.635164	.|B;D;B;P	.|0.61080	.|0.02;0.989;0.361;0.799	.|B;D;B;P	.|0.70487	.|0.056;0.969;0.077;0.465	D|D	0.95414|0.95414	0.8501|0.8501	6|10	0.87932|0.46703	D|T	0|0.11	.|.	12.7373|12.7373	0.57232|0.57232	0.0806:0.0:0.9194:0.0|0.0806:0.0:0.9194:0.0	.|.	.|132;132;178;185	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	M|K	110|185;178;132;178;178;102	.|ENSP00000304169:N185K;ENSP00000378097:N178K;ENSP00000347192:N132K;ENSP00000347004:N178K;ENSP00000421454:N178K;ENSP00000450938:N102K	ENSP00000378095:L110M|ENSP00000304169:N185K	L|N	-|-	1|3	2|2	PITX2|PITX2	111759150|111759150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.405000|7.405000	0.80007|0.80007	1.402000|1.402000	0.46780|0.46780	0.563000|0.563000	0.77884|0.77884	CTG|AAC		0.552	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			24	20	1	0	1.85244e-09	1	2.25385e-09	24	20				
ERICH3	127254	broad.mit.edu	37	1	75039105	75039105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039105C>T	ENST00000326665.5	-	14	2507	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		763	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACGTTTTTTGCACCAATTGCT	0.423																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2287-2289)gtG>gtA		chromosome 1 open reading frame 173							94.0	97.0	96.0					1																	75039105		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75039105C>T																												ENST00000326665.5:c.2289G>A	1.37:g.75039105C>T						C1orf173_ENST00000433746.2_5'UTR	p.V763V	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2507	-			763			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2289G>A	CCDS30755.1																																																																																				0.423	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	86	0	0	0	1	0	8	86				
UTRN	7402	broad.mit.edu	37	6	144769783	144769783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144769783G>T	ENST00000367545.3	+	16	1950	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	650	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTCCTCAGAAGGACCTTTTGG	0.428																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1948-1950)aaG>aaT		utrophin							115.0	113.0	113.0					6																	144769783		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144769783G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1950G>T	6.37:g.144769783G>T	ENSP00000356515:p.Lys650Asn						p.K650N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	16	1950	+		Ovarian(120;0.218)	650			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1950G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642222	0.47153	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.61392	0.11	5.87	3.15	0.36227	.	0.108127	0.40908	D	0.000999	T	0.20088	0.0483	N	0.14661	0.345	0.80722	D	1	B	0.29835	0.258	B	0.28709	0.093	T	0.04153	-1.0973	10	0.25106	T	0.35	.	11.615	0.51083	0.1929:0.0:0.8071:0.0	.	650	P46939	UTRO_HUMAN	N	650	ENSP00000356515:K650N	ENSP00000356499:K650N	K	+	3	2	UTRN	144811476	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.968000	0.29357	0.487000	0.27698	0.655000	0.94253	AAG		0.428	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	102	1	0	1.61879e-10	1	1.99744e-10	11	102				
SLC13A2	9058	broad.mit.edu	37	17	26820593	26820593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820593C>T	ENST00000314669.5	+	7	1303	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	SLC13A2_ENST00000545060.1_Missense_Mutation_p.R252W|SLC13A2_ENST00000444914.3_Missense_Mutation_p.R344W|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R224W	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	295					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTGCAGCTTCCGGAAGAACTT	0.622																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1030-1032)Cgg>Tgg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						32.0	31.0	31.0					17																	26820593		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26820593C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.883C>T	17.37:g.26820593C>T	ENSP00000316202:p.Arg295Trp					SLC13A2_ENST00000314669.5_Missense_Mutation_p.R295W|SLC13A2_ENST00000545060.1_Missense_Mutation_p.R252W|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R224W	p.R344W	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	1450	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		295					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.1030C>T	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125476	0.77436	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	4.74	2.65	0.31530	.	0.232106	0.43579	D	0.000556	T	0.24314	0.0589	M	0.93939	3.475	0.31057	N	0.714512	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	P;D;P;P;P	0.76071	0.899;0.987;0.901;0.888;0.901	T	0.44757	-0.9307	10	0.87932	D	0	-0.6528	14.0899	0.64982	0.5782:0.4218:0.0:0.0	.	252;344;251;224;295	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	W	295;344;252;251;224	ENSP00000316202:R295W;ENSP00000392411:R344W;ENSP00000441935:R252W;ENSP00000440802:R224W	ENSP00000316202:R295W	R	+	1	2	SLC13A2	23844720	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	1.312000	0.33574	0.476000	0.27440	0.455000	0.32223	CGG		0.622	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		5	9	0	0	0	1	0	5	9				
ZFC3H1	196441	broad.mit.edu	37	12	72057179	72057179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72057179C>A	ENST00000378743.3	-	1	570	c.212G>T	c.(211-213)gGc>gTc	p.G71V	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G71V|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G71V	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	71	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGGAAGAGCCACCGCCTCC	0.682											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(211-213)gGc>gTc		zinc finger, C3H1-type containing							42.0	52.0	49.0					12																	72057179		2013	4183	6196	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057179C>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.212G>T	12.37:g.72057179C>A	ENSP00000368017:p.Gly71Val		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G71V|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G71V|THAP2_ENST00000308086.2_5'UTR	p.G71V	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	570	-			71			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.212G>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713061	0.48517	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.31769	1.48	4.25	4.25	0.50352	.	0.353337	0.22127	N	0.064255	T	0.23289	0.0563	N	0.14661	0.345	0.80722	D	1	D;P;P	0.59357	0.985;0.872;0.58	P;B;B	0.48770	0.589;0.278;0.087	T	0.01945	-1.1242	10	0.62326	D	0.03	.	9.2112	0.37320	0.1601:0.6843:0.1556:0.0	.	71;71;71	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	V	71	ENSP00000368017:G71V	ENSP00000368017:G71V	G	-	2	0	ZFC3H1	70343446	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.166000	0.50785	2.368000	0.80403	0.455000	0.32223	GGC		0.682	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		34	50	1	0	3.11337e-16	1	4.01248e-16	34	50				
ZNF354A	6940	broad.mit.edu	37	5	178139101	178139101	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178139101A>T	ENST00000335815.2	-	5	1975	c.1778T>A	c.(1777-1779)cTt>cAt	p.L593H		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	593					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGATTAGTAAGGGATGACCT	0.368																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1777-1779)cTt>cAt		zinc finger protein 354A							66.0	69.0	68.0					5																	178139101		2202	4299	6501	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139101A>T	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1778T>A	5.37:g.178139101A>T	ENSP00000337122:p.Leu593His						p.L593H	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1975	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	593					Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.1778T>A	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	A	7.795	0.712360	0.15306	.	.	ENSG00000169131	ENST00000335815	T	0.69435	-0.4	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76828	0.4042	H	0.96111	3.77	0.19945	N	0.99994	B	0.26602	0.154	B	0.24269	0.052	T	0.72890	-0.4155	9	0.87932	D	0	-11.7039	12.005	0.53255	1.0:0.0:0.0:0.0	.	593	O60765	Z354A_HUMAN	H	593	ENSP00000337122:L593H	ENSP00000337122:L593H	L	-	2	0	ZNF354A	178071707	0.969000	0.33509	0.989000	0.46669	0.279000	0.26890	5.993000	0.70616	2.005000	0.58758	0.533000	0.62120	CTT		0.368	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		6	79	0	0	0	1	0	6	79				
TENM4	26011	broad.mit.edu	37	11	78437139	78437139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78437139G>T	ENST00000278550.7	-	23	3997	c.3535C>A	c.(3535-3537)Ctc>Atc	p.L1179I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1179					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGAATGTTGAGGGCATGATGT	0.453																																						ENST00000278550.7																			0											c.(3535-3537)Ctc>Atc		teneurin transmembrane protein 4							305.0	297.0	299.0					11																	78437139		1944	4141	6085	SO:0001583	missense	26011							g.chr11:78437139G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3535C>A	11.37:g.78437139G>T	ENSP00000278550:p.Leu1179Ile						p.L1179I	NM_001098816.2	NP_001092286.2					23	3997	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3535C>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478804	0.84747	.	.	ENSG00000149256	ENST00000278550	D	0.92149	-2.98	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.83483	2.645	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	D	0.95836	0.8862	9	.	.	.	.	19.1899	0.93660	0.0:0.0:1.0:0.0	.	1179	Q6N022	TEN4_HUMAN	I	1179	ENSP00000278550:L1179I	.	L	-	1	0	ODZ4	78114787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.403000	0.66338	2.760000	0.94817	0.655000	0.94253	CTC		0.453	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			23	280	1	0	6.21321e-17	1	8.03594e-17	23	280				
KDM3B	51780	broad.mit.edu	37	5	137721960	137721960	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721960T>A	ENST00000314358.5	+	7	1230	c.1030T>A	c.(1030-1032)Tct>Act	p.S344T	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	344					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCAGCCACCGTCTACATTTGT	0.572																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(1030-1032)Tct>Act		lysine (K)-specific demethylase 3B							179.0	183.0	181.0					5																	137721960		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721960T>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1030T>A	5.37:g.137721960T>A	ENSP00000326563:p.Ser344Thr					KDM3B_ENST00000394866.1_Intron	p.S344T	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1230	+			344					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1030T>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	T	0.565	-0.843730	0.02671	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.61510	0.1	5.6	0.256	0.15567	.	0.533564	0.19398	N	0.115246	T	0.25606	0.0623	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04579	-1.0941	10	0.17369	T	0.5	-14.8374	0.5875	0.00722	0.223:0.3038:0.1333:0.3399	.	344	Q7LBC6	KDM3B_HUMAN	T	344;134	ENSP00000326563:S344T	ENSP00000326563:S344T	S	+	1	0	KDM3B	137749859	0.878000	0.30173	0.634000	0.29324	0.946000	0.59487	0.708000	0.25719	0.054000	0.16065	-0.400000	0.06385	TCT		0.572	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		19	160	0	0	0	1	0	19	160				
LSM11	134353	broad.mit.edu	37	5	157181872	157181872	+	Missense_Mutation	SNP	G	G	A	rs542499068	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157181872G>A	ENST00000286307.5	+	4	739	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	228					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATTTGATCGGCTGAAACTT	0.368													G|||	2	0.000399361	0.0	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.002					ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(682-684)cGg>cAg		LSM11, U7 small nuclear RNA associated							52.0	51.0	51.0					5																	157181872		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157181872G>A	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.683G>A	5.37:g.157181872G>A	ENSP00000286307:p.Arg228Gln						p.R228Q	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	739	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	228					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.683G>A	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375745	0.82682	.	.	ENSG00000155858	ENST00000286307	T	0.42513	0.97	5.52	5.52	0.82312	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.099000	0.64402	D	0.000002	T	0.56775	0.2008	L	0.36672	1.1	0.45183	D	0.998198	D	0.89917	1.0	D	0.87578	0.998	T	0.57969	-0.7719	10	0.66056	D	0.02	-11.7063	17.631	0.88108	0.0:0.0:1.0:0.0	.	228	P83369	LSM11_HUMAN	Q	228	ENSP00000286307:R228Q	ENSP00000286307:R228Q	R	+	2	0	LSM11	157114450	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	4.022000	0.57203	2.597000	0.87782	0.655000	0.94253	CGG		0.368	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		25	34	0	0	0	1	0	25	34				
MRPL30	51263	broad.mit.edu	37	2	99811658	99811658	+	Intron	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99811658T>G	ENST00000338148.3	+	5	551				MRPL30_ENST00000410042.1_Missense_Mutation_p.V120G|MRPL30_ENST00000465432.1_Intron|C2orf15_ENST00000512183.2_Intron	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30							mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATAAGGTTTGTTGTTTCTTCT	0.303																																						ENST00000410042.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(358-360)gTt>gGt		mitochondrial ribosomal protein L30							171.0	164.0	166.0					2																	99811658		2203	4300	6503	SO:0001627	intron_variant	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99811658T>G	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.353+6T>G	2.37:g.99811658T>G						MRPL30_ENST00000338148.3_Intron|MRPL30_ENST00000465432.1_Intron|C2orf15_ENST00000512183.2_Intron	p.V120G			Q8TCC3	RM30_HUMAN			6	566	+			0					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	c.359T>G	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	T	9.680	1.149146	0.21288	.	.	ENSG00000185414	ENST00000410042	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.67599	0.2910	.	.	.	0.80722	D	1	D	0.57257	0.979	P	0.58454	0.839	T	0.68682	-0.5344	6	.	.	.	.	11.6296	0.51166	0.0:0.0:0.0:1.0	.	120	Q8TCC3-3	.	G	120	.	.	V	+	2	0	MRPL30	99178090	.	.	0.586000	0.28679	0.262000	0.26303	.	.	1.911000	0.55334	0.533000	0.62120	GTT		0.303	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			44	62	0	0	0	1	0	44	62				
CHML	1122	broad.mit.edu	37	1	241797251	241797251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241797251G>T	ENST00000366553.1	-	1	1981	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	606					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTGGAGGGCAGAATTCTTCAG	0.453																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1816-1818)ttC>ttA		choroideremia-like (Rab escort protein 2)							128.0	127.0	128.0					1																	241797251		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797251G>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1818C>A	1.37:g.241797251G>T	ENSP00000355511:p.Phe606Leu					OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	p.F606L	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1981	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	606					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1818C>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128134	0.77549	.	.	ENSG00000203668	ENST00000366553	T	0.56611	0.45	4.55	1.54	0.23209	.	0.000000	0.85682	U	0.000000	T	0.67325	0.2881	.	.	.	0.54753	D	0.999989	D	0.69078	0.997	D	0.79784	0.993	T	0.66073	-0.6014	9	0.62326	D	0.03	-10.5597	7.9476	0.29995	0.0877:0.3082:0.6041:0.0	.	606	P26374	RAE2_HUMAN	L	606	ENSP00000355511:F606L	ENSP00000355511:F606L	F	-	3	2	CHML	239863874	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.755000	0.38379	0.376000	0.24707	0.655000	0.94253	TTC		0.453	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		20	104	1	0	1.50039e-11	1	1.87199e-11	20	104				
CTF1	1489	broad.mit.edu	37	16	30910766	30910766	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30910766T>G	ENST00000279804.2	+	2	93	c.56T>G	c.(55-57)cTt>cGt	p.L19R	CTF1_ENST00000395019.3_Missense_Mutation_p.L18R	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	19					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|leukemia inhibitory factor signaling pathway (GO:0048861)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	leukemia inhibitory factor receptor binding (GO:0005146)			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCAGTCTCACTTCTTCCCCAC	0.562																																						ENST00000279804.2																			0				large_intestine(1)|urinary_tract(1)	2						c.(55-57)cTt>cGt		cardiotrophin 1							109.0	92.0	98.0					16																	30910766		2197	4300	6497	SO:0001583	missense	1489				cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding	g.chr16:30910766T>G	U43030	CCDS10694.1, CCDS45464.1	16p11.2	2014-09-17			ENSG00000150281	ENSG00000150281			2499	protein-coding gene	gene with protein product		600435				8833032	Standard	NM_001330		Approved	CT-1, CT1	uc002dzw.3	Q16619	OTTHUMG00000132413	ENST00000279804.2:c.56T>G	16.37:g.30910766T>G	ENSP00000279804:p.Leu19Arg					CTF1_ENST00000395019.3_Missense_Mutation_p.L18R	p.L19R	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	Colorectal(24;0.198)		2	93	+			19					A8MVX4|Q5U5Y7	Missense_Mutation	SNP	ENST00000279804.2	37	c.56T>G	CCDS10694.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077414	0.36662	.	.	ENSG00000150281	ENST00000279804;ENST00000395019	T;T	0.78246	-1.16;-1.16	4.93	1.29	0.21616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.787120	0.02853	N	0.129380	T	0.61986	0.2391	N	0.08118	0	0.22017	N	0.999416	B;B	0.32467	0.372;0.372	B;B	0.33890	0.172;0.172	T	0.57510	-0.7799	10	0.87932	D	0	-0.515	5.7121	0.17941	0.0:0.4374:0.0:0.5626	.	18;19	Q5U5Y7;Q16619	.;CTF1_HUMAN	R	19;18	ENSP00000279804:L19R;ENSP00000378465:L18R	ENSP00000279804:L19R	L	+	2	0	CTF1	30818267	0.973000	0.33851	0.975000	0.42487	0.995000	0.86356	0.922000	0.28734	0.269000	0.21961	0.460000	0.39030	CTT		0.562	CTF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255550.1	NM_001330		4	53	0	0	0	1	0	4	53				
DENND1A	57706	broad.mit.edu	37	9	126146102	126146102	+	Silent	SNP	G	G	A	rs145330954		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126146102G>A	ENST00000373624.2	-	21	1869	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	DENND1A_ENST00000542603.1_Silent_p.G341G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G567G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	556					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGGGACAGGGCCTGTGGACT	0.657																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1666-1668)ggC>ggT		DENN/MADD domain containing 1A							83.0	84.0	84.0					9																	126146102		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146102G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1668C>T	9.37:g.126146102G>A						DENND1A_ENST00000542603.1_Silent_p.G341G|DENND1A_ENST00000394219.3_Silent_p.G567G|DENND1A_ENST00000473039.1_5'UTR	p.G556G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			21	1869	-			556					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.1668C>T	CCDS35133.1																																																																																				0.657	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		34	66	0	0	0	1	0	34	66				
TRAJ57	28698	broad.mit.edu	37	14	22945582	22945582	+	RNA	SNP	C	C	T	rs373939308		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22945582C>T	ENST00000390482.1	+	0	0				TRAJ56_ENST00000390483.1_RNA|TRAJ61_ENST00000390479.2_RNA|TRAJ58_ENST00000390481.1_RNA|TRAJ59_ENST00000390480.2_RNA|AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA					T cell receptor alpha joining 57																		GGAATGGGGACGCAAGTGAGA	0.413																																						ENST00000514473.2																			0															C		0,3782		0,0,1891	83.0	97.0	93.0			3.6	0.0	14		93	2,8192		0,2,4095	no	intergenic				0,2,5986	TT,TC,CC		0.0244,0.0,0.0167			22945582	2,11974	1891	4097	5988			0							g.chr14:22945582C>T	M94081		14q11.2	2012-02-07			ENSG00000211834	ENSG00000211834		"""T cell receptors / TRA locus"""	12089	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170910		14.37:g.22945582C>T						AE000661.37_ENST00000556777.1_RNA|TRAJ59_ENST00000390480.2_RNA								0	225	-									RNA	SNP	ENST00000390482.1	37																																																																																						0.413	TRAJ57-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410941.1	NG_001332		5	12	0	0	0	1	0	5	12				
KMT2E	55904	broad.mit.edu	37	7	104742434	104742434	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104742434G>A	ENST00000311117.3	+	17	2534	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Silent_p.Q663Q|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Silent_p.Q663Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	663					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACATTGGACAGCAGCGTCGGA	0.398																																						ENST00000334877.4																			0											c.(1987-1989)caG>caA		lysine (K)-specific methyltransferase 2E							85.0	83.0	84.0					7																	104742434		2203	4300	6503	SO:0001819	synonymous_variant	55904							g.chr7:104742434G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1989G>A	7.37:g.104742434G>A						KMT2E_ENST00000311117.3_Silent_p.Q663Q|KMT2E_ENST00000257745.4_Silent_p.Q663Q|KMT2E_ENST00000334914.7_5'UTR	p.Q663Q							17	2523	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.1989G>A	CCDS34723.1																																																																																				0.398	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			61	52	0	0	0	1	0	61	52				
PM20D1	148811	broad.mit.edu	37	1	205819191	205819191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205819191G>A	ENST00000367136.4	-	1	54	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	4					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAAACGCACCGCTGAGCCATG	0.592																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(10-12)Cgg>Tgg		peptidase M20 domain containing 1							64.0	58.0	60.0					1																	205819191		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819191G>A		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.10C>T	1.37:g.205819191G>A	ENSP00000356104:p.Arg4Trp					PM20D1_ENST00000460624.1_5'UTR	p.R4W	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	54	-	Breast(84;0.201)		4					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.10C>T	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968372	0.53614	.	.	ENSG00000162877	ENST00000367136	T	0.07021	3.23	4.53	-1.36	0.09085	.	0.887861	0.09966	N	0.732754	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	1	D	0.63880	0.993	B	0.40534	0.332	T	0.36696	-0.9737	10	0.37606	T	0.19	.	3.1038	0.06335	0.0905:0.1319:0.3948:0.3828	.	4	Q6GTS8	P20D1_HUMAN	W	4	ENSP00000356104:R4W	ENSP00000356104:R4W	R	-	1	2	PM20D1	204085814	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.764000	0.04735	-0.034000	0.13713	0.655000	0.94253	CGG		0.592	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		20	22	0	0	0	1	0	20	22				
NCKAP5	344148	broad.mit.edu	37	2	133541148	133541148	+	Missense_Mutation	SNP	G	G	A	rs375896892		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133541148G>A	ENST00000409261.1	-	14	3609	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1079M|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1079										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGAGGACGTCATTTCCAG	0.507																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3235-3237)aCg>aTg		NCK-associated protein 5		G	MET/THR,	1,3909		0,1,1954	214.0	221.0	219.0		3236,	-0.0	0.0	2		219	0,8294		0,0,4147	no	missense,intron	NCKAP5	NM_207363.2,NM_207481.3	81,	0,1,6101	AA,AG,GG		0.0,0.0256,0.0082	possibly-damaging,	1079/1910,	133541148	1,12203	1955	4147	6102	SO:0001583	missense	344148						protein binding	g.chr2:133541148G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3236C>T	2.37:g.133541148G>A	ENSP00000387128:p.Thr1079Met					NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1079M|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.T1079M	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3609	-			1079					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3236C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	6.778	0.512426	0.12944	2.56E-4	0.0	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10860	2.83;2.83	5.19	-0.0232	0.13944	.	1.690070	0.04354	U	0.356220	T	0.06234	0.0161	N	0.24115	0.695	0.09310	N	1	P	0.50710	0.938	B	0.34138	0.176	T	0.32481	-0.9905	10	0.56958	D	0.05	.	4.4804	0.11764	0.2592:0.0:0.5002:0.2406	.	1079	O14513	NCKP5_HUMAN	M	1079	ENSP00000387128:T1079M;ENSP00000380603:T1079M	ENSP00000380603:T1079M	T	-	2	0	NCKAP5	133257618	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.165000	0.16564	0.048000	0.15891	0.655000	0.94253	ACG		0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		90	131	0	0	0	1	0	90	131				
GPR56	9289	broad.mit.edu	37	16	57693391	57693391	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57693391C>T	ENST00000388812.4	+	11	1811	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	GPR56_ENST00000538815.1_Silent_p.D451D|GPR56_ENST00000562631.1_Silent_p.D451D|GPR56_ENST00000567835.1_Silent_p.D457D|GPR56_ENST00000562558.1_Silent_p.D451D|GPR56_ENST00000568909.1_Silent_p.D457D|GPR56_ENST00000379696.3_Silent_p.D457D|GPR56_ENST00000456916.1_Silent_p.D457D|GPR56_ENST00000388813.5_Silent_p.D451D|GPR56_ENST00000544297.1_Silent_p.D276D|GPR56_ENST00000379694.4_Silent_p.D287D|GPR56_ENST00000540164.2_Silent_p.D451D|GPR56_ENST00000568908.1_Silent_p.D451D			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	457					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCCTGCTGGACACGAGCTTCC	0.637																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1351-1353)gaC>gaT		G protein-coupled receptor 56							80.0	62.0	68.0					16																	57693391		2198	4300	6498	SO:0001819	synonymous_variant	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57693391C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1371C>T	16.37:g.57693391C>T						GPR56_ENST00000379696.3_Silent_p.D457D|GPR56_ENST00000567835.1_Silent_p.D457D|GPR56_ENST00000456916.1_Silent_p.D457D|GPR56_ENST00000379694.4_Silent_p.D287D|GPR56_ENST00000538815.1_Silent_p.D451D|GPR56_ENST00000544297.1_Silent_p.D276D|GPR56_ENST00000388813.5_Silent_p.D451D|GPR56_ENST00000562558.1_Silent_p.D451D|GPR56_ENST00000568908.1_Silent_p.D451D|GPR56_ENST00000568909.1_Silent_p.D457D|GPR56_ENST00000388812.4_Silent_p.D457D|GPR56_ENST00000540164.2_Silent_p.D451D	p.D451D			Q9Y653	GPR56_HUMAN			11	1885	+			457					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1353C>T	CCDS32460.1																																																																																				0.637	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			11	37	0	0	0	1	0	11	37				
PIAS1	8554	broad.mit.edu	37	15	68468894	68468894	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68468894C>T	ENST00000249636.6	+	11	1531	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	PIAS1_ENST00000545237.1_Silent_p.D463D|PIAS1_ENST00000567417.1_3'UTR	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	461					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAGTGATTGACCTAACCATAG	0.433																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1387-1389)gaC>gaT		protein inhibitor of activated STAT, 1							127.0	124.0	125.0					15																	68468894		1941	4139	6080	SO:0001819	synonymous_variant	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68468894C>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1383C>T	15.37:g.68468894C>T						PIAS1_ENST00000249636.6_Silent_p.D461D|PIAS1_ENST00000567417.1_3'UTR	p.D463D			O75925	PIAS1_HUMAN			12	2130	+			461			SUMO1-binding (By similarity).		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	37	c.1389C>T	CCDS45290.1																																																																																				0.433	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			9	83	0	0	0	1	0	9	83				
IQGAP2	10788	broad.mit.edu	37	5	75967619	75967619	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75967619G>A	ENST00000274364.6	+	24	3176	c.2879G>A	c.(2878-2880)gGt>gAt	p.G960D	IQGAP2_ENST00000502745.1_Missense_Mutation_p.G456D|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G462D|IQGAP2_ENST00000396234.3_Missense_Mutation_p.G456D	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	960	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAGTTACTGGTAACCCTACA	0.433																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2878-2880)gGt>gAt		IQ motif containing GTPase activating protein 2							75.0	79.0	78.0					5																	75967619		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75967619G>A	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2879G>A	5.37:g.75967619G>A	ENSP00000274364:p.Gly960Asp					IQGAP2_ENST00000396234.3_Missense_Mutation_p.G456D|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G456D|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G462D	p.G960D	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	24	3176	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	960			Ras-GAP.		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2879G>A	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644818	0.87859	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.51	4.63	0.57726	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.051633	0.85682	D	0.000000	D	0.92482	0.7613	M	0.85710	2.77	0.80722	D	1	D;D;D;D	0.76494	0.991;0.999;0.998;0.998	D;D;D;D	0.75484	0.926;0.986;0.955;0.976	D	0.93318	0.6690	10	0.72032	D	0.01	-24.2688	14.5839	0.68310	0.0716:0.0:0.9284:0.0	.	462;910;456;960	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	D	960;462;910;456;456	ENSP00000274364:G960D;ENSP00000442313:G462D;ENSP00000421097:G910D;ENSP00000379535:G456D;ENSP00000426027:G456D	ENSP00000274364:G960D	G	+	2	0	IQGAP2	76003375	1.000000	0.71417	0.315000	0.25238	0.984000	0.73092	8.011000	0.88624	2.579000	0.87056	0.591000	0.81541	GGT		0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		25	34	0	0	0	1	0	25	34				
ATG16L1	55054	broad.mit.edu	37	2	234201038	234201038	+	Missense_Mutation	SNP	C	C	A	rs144457166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201038C>A	ENST00000392017.4	+	16	1843	c.1586C>A	c.(1585-1587)cCt>cAt	p.P529H	ATG16L1_ENST00000347464.5_Missense_Mutation_p.P366H|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P510H|ATG16L1_ENST00000392018.1_Missense_Mutation_p.P546H|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P350H	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	529				P -> T (in Ref. 6; BAB55412). {ECO:0000305}.	autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TTCAGTGCACCTGGGTTCAAG	0.562																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(1585-1587)cCt>cAt		autophagy related 16-like 1 (S. cerevisiae)							133.0	122.0	126.0					2																	234201038		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234201038C>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1586C>A	2.37:g.234201038C>A	ENSP00000375872:p.Pro529His					ATG16L1_ENST00000392018.1_Missense_Mutation_p.P546H|ATG16L1_ENST00000347464.5_Missense_Mutation_p.P366H|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P350H|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P510H	p.P529H	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	16	1843	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	529	P -> T (in Ref. 5; BAB55412).				A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.1586C>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176799	0.78564	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.104021	0.64402	D	0.000002	T	0.14098	0.0341	N	0.21324	0.655	0.44352	D	0.997241	B;P;P;P;P	0.47545	0.429;0.842;0.897;0.756;0.835	B;P;P;B;P	0.58873	0.322;0.626;0.847;0.422;0.707	T	0.02471	-1.1154	10	0.02654	T	1	.	14.3451	0.66654	0.184:0.8159:0.0:0.0	.	483;510;350;529;366	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	H	529;366;350;510;546;188	ENSP00000375872:P529H;ENSP00000318259:P366H;ENSP00000362625:P350H;ENSP00000375875:P510H;ENSP00000375873:P546H	ENSP00000334016:P188H	P	+	2	0	ATG16L1	233865777	1.000000	0.71417	0.830000	0.32933	0.999000	0.98932	4.602000	0.61098	2.625000	0.88918	0.655000	0.94253	CCT		0.562	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		8	21	1	0	0.00448238	1	0.00472561	8	21				
KIF23	9493	broad.mit.edu	37	15	69733243	69733243	+	Missense_Mutation	SNP	C	C	T	rs535792693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69733243C>T	ENST00000260363.4	+	18	2321	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	KIF23_ENST00000559279.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T735M|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000537891.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	735					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAAATTCCTACGTACAACACA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		16714	0.0		0.0	False		,,,				2504	0.001					ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2203-2205)aCg>aTg		kinesin family member 23							87.0	73.0	78.0					15																	69733243		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69733243C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2204C>T	15.37:g.69733243C>T	ENSP00000260363:p.Thr735Met					KIF23_ENST00000352331.4_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T735M|KIF23_ENST00000559279.1_Intron	p.T735M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			18	2321	+			735					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2204C>T	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247554	0.59103	.	.	ENSG00000137807	ENST00000260363;ENST00000395392	T;T	0.74209	-0.82;-0.82	5.5	5.5	0.81552	.	0.716909	0.13654	N	0.372048	T	0.61961	0.2389	N	0.24115	0.695	0.80722	D	1	P	0.35793	0.521	B	0.27796	0.083	T	0.63457	-0.6633	10	0.46703	T	0.11	.	16.9091	0.86136	0.0:1.0:0.0:0.0	.	735	Q02241	KIF23_HUMAN	M	735	ENSP00000260363:T735M;ENSP00000378790:T735M	ENSP00000260363:T735M	T	+	2	0	KIF23	67520297	0.949000	0.32298	0.943000	0.38184	0.981000	0.71138	2.732000	0.47352	2.740000	0.93945	0.650000	0.86243	ACG		0.493	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	48	0	0	0	1	0	4	48				
GABRB1	2560	broad.mit.edu	37	4	47427785	47427785	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427785C>T	ENST00000295454.3	+	9	1467	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	GABRB1_ENST00000538619.1_Missense_Mutation_p.A322V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	392					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACCCCAAGGCCACCATGTAC	0.647																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1174-1176)gCc>gTc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						56.0	61.0	59.0					4																	47427785		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427785C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1175C>T	4.37:g.47427785C>T	ENSP00000295454:p.Ala392Val					GABRB1_ENST00000538619.1_Missense_Mutation_p.A322V	p.A392V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1467	+			392					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1175C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022763	0.54683	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85861	-2.04;-2.04	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.543487	0.18027	N	0.154023	D	0.84361	0.5455	L	0.54323	1.7	0.35465	D	0.796839	B;B	0.26445	0.004;0.149	B;B	0.32211	0.005;0.142	D	0.85075	0.0942	10	0.46703	T	0.11	-6.7249	16.6689	0.85260	0.0:1.0:0.0:0.0	.	322;392	F5GXV5;P18505	.;GBRB1_HUMAN	V	392;322	ENSP00000295454:A392V;ENSP00000440330:A322V	ENSP00000295454:A392V	A	+	2	0	GABRB1	47122542	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	1.745000	0.38278	2.803000	0.96430	0.650000	0.86243	GCC		0.647	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			31	28	0	0	0	1	0	31	28				
ZMYM2	7750	broad.mit.edu	37	13	20660111	20660111	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20660111T>G	ENST00000382874.2	+	26	4281	c.4091T>G	c.(4090-4092)aTt>aGt	p.I1364S	ZMYM2_ENST00000382869.3_Missense_Mutation_p.I1364S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I1364S	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GTAAAAGATATTTATGATAAA	0.393																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(4090-4092)aTt>aGt		zinc finger, MYM-type 2							65.0	63.0	63.0					13																	20660111		1811	4076	5887	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20660111T>G	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.4091T>G	13.37:g.20660111T>G	ENSP00000372327:p.Ile1364Ser					ZMYM2_ENST00000382870.2_Missense_Mutation_p.I744S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I1364S|ZMYM2_ENST00000382874.2_Missense_Mutation_p.I1364S	p.I1364S	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	25	4342	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1364					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.4091T>G	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667350	0.67814	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.25749	1.78	5.82	5.82	0.92795	.	0.097074	0.64402	D	0.000001	T	0.42698	0.1214	M	0.69358	2.11	0.80722	D	1	D	0.65815	0.995	P	0.53360	0.724	T	0.39781	-0.9597	10	0.87932	D	0	-16.5855	16.1818	0.81909	0.0:0.0:0.0:1.0	.	1364	Q9UBW7	ZMYM2_HUMAN	S	1364;1364;1362;1362;742	ENSP00000372322:I1364S	ENSP00000372322:I1364S	I	+	2	0	ZMYM2	19558111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.804000	0.62554	2.225000	0.72522	0.459000	0.35465	ATT		0.393	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		7	42	0	0	0	1	0	7	42				
NR3C1	2908	broad.mit.edu	37	5	142780045	142780045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142780045C>T	ENST00000343796.2	-	2	1353	c.360G>A	c.(358-360)aaG>aaA	p.K120K	NR3C1_ENST00000394466.2_Silent_p.K120K|NR3C1_ENST00000503201.1_Silent_p.K120K|NR3C1_ENST00000415690.2_Silent_p.K120K|NR3C1_ENST00000394464.2_Silent_p.K120K|NR3C1_ENST00000424646.2_Silent_p.K120K|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Silent_p.K120K|NR3C1_ENST00000504572.1_Silent_p.K120K	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	120	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	CTTCCAAAAGCTTTAAGTCTG	0.498																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(358-360)aaG>aaA		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						100.0	113.0	108.0					5																	142780045		2202	4300	6502	SO:0001819	synonymous_variant	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780045C>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.360G>A	5.37:g.142780045C>T						NR3C1_ENST00000231509.3_Silent_p.K120K|NR3C1_ENST00000503201.1_Silent_p.K120K|NR3C1_ENST00000424646.2_Silent_p.K120K|NR3C1_ENST00000504572.1_Silent_p.K120K|NR3C1_ENST00000415690.2_Silent_p.K120K|NR3C1_ENST00000394466.2_Silent_p.K120K|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Silent_p.K120K	p.K120K	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1353	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	120			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	c.360G>A	CCDS4278.1																																																																																				0.498	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			54	83	0	0	0	1	0	54	83				
PTPN11	5781	broad.mit.edu	37	12	112926976	112926976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926976G>A	ENST00000351677.2	+	13	1794	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	536					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGAAGAAGAGCAGGTACCAG	0.502			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1594-1596)gaG>gaA		protein tyrosine phosphatase, non-receptor type 11							108.0	109.0	108.0					12																	112926976		2203	4300	6503	SO:0001819	synonymous_variant	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926976G>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1596G>A	12.37:g.112926976G>A							p.E532E	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			13	1794	+			536					A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.1596G>A	CCDS9163.1																																																																																				0.502	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			8	131	0	0	0	1	0	8	131				
LAMA1	284217	broad.mit.edu	37	18	7044729	7044729	+	Missense_Mutation	SNP	G	G	A	rs147036555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7044729G>A	ENST00000389658.3	-	7	1061	c.968C>T	c.(967-969)aCa>aTa	p.T323I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	323	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCTTCACATGTATTGCCGGA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		16219	0.0		0.001	False		,,,				2504	0.0					ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(967-969)aCa>aTa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	116.0	118.0					18																	7044729		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7044729G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.968C>T	18.37:g.7044729G>A	ENSP00000374309:p.Thr323Ile						p.T323I	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			7	1061	-		Colorectal(10;0.172)	323			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.968C>T	CCDS32787.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.861	1.196353	0.22037	.	.	ENSG00000101680	ENST00000389658	T	0.63255	-0.03	4.88	0.556	0.17253	EGF-like, laminin (3);	0.626528	0.13858	N	0.357889	T	0.40932	0.1137	N	0.21282	0.65	0.20926	N	0.999824	B	0.32031	0.352	B	0.30105	0.111	T	0.22068	-1.0227	10	0.46703	T	0.11	.	4.3566	0.11181	0.2702:0.0:0.3178:0.412	.	323	P25391	LAMA1_HUMAN	I	323	ENSP00000374309:T323I	ENSP00000374309:T323I	T	-	2	0	LAMA1	7034729	0.195000	0.23338	0.009000	0.14445	0.005000	0.04900	0.481000	0.22260	-0.134000	0.11516	0.655000	0.94253	ACA		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		51	75	0	0	0	1	0	51	75				
SLC26A4	5172	broad.mit.edu	37	7	107314714	107314714	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107314714C>A	ENST00000265715.3	+	5	745	c.521C>A	c.(520-522)aCt>aAt	p.T174N		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	174					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAAATACTACTATGATAGAC	0.438									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(520-522)aCt>aAt		solute carrier family 26 (anion exchanger), member 4							125.0	118.0	120.0					7																	107314714		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107314714C>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.521C>A	7.37:g.107314714C>A	ENSP00000265715:p.Thr174Asn						p.T174N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			5	745	+			174					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.521C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713567	0.68730	.	.	ENSG00000091137	ENST00000265715	D	0.93953	-3.32	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.93897	0.8047	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.62014	0.897	D	0.93454	0.6804	10	0.38643	T	0.18	.	17.7766	0.88510	0.0:1.0:0.0:0.0	.	174	O43511	S26A4_HUMAN	N	174	ENSP00000265715:T174N	ENSP00000265715:T174N	T	+	2	0	SLC26A4	107101950	0.716000	0.27956	0.042000	0.18584	0.004000	0.04260	2.169000	0.42434	2.440000	0.82611	0.655000	0.94253	ACT		0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		53	59	1	0	1.54886e-18	1	2.02154e-18	53	59				
PCDHGC4	56098	broad.mit.edu	37	5	140864800	140864800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140864800C>T	ENST00000306593.1	+	1	60	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	20					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTTCCTCTTTTACCACC	0.552																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(58-60)ctC>ctT									57.0	62.0	60.0					5																	140864800		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140864800C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.60C>T	5.37:g.140864800C>T						PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.L20L	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	60	+								Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.60C>T	CCDS4262.1																																																																																				0.552	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		18	34	0	0	0	1	0	18	34				
EPB41L5	57669	broad.mit.edu	37	2	120834640	120834640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120834640C>T	ENST00000263713.5	+	8	813	c.599C>T	c.(598-600)gCt>gTt	p.A200V	EPB41L5_ENST00000443902.2_Missense_Mutation_p.A200V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.A200V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.A200V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.A200V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATGGAACTGGCTATTTTTGAG	0.373																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(598-600)gCt>gTt		erythrocyte membrane protein band 4.1 like 5							152.0	153.0	152.0					2																	120834640		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120834640C>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.599C>T	2.37:g.120834640C>T	ENSP00000263713:p.Ala200Val					EPB41L5_ENST00000331393.4_Missense_Mutation_p.A200V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.A200V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.A200V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.A200V	p.A200V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			8	813	+			200			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.599C>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280981	0.59758	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.01	5.01	0.66863	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.084158	0.49916	D	0.000140	D	0.87676	0.6237	M	0.75447	2.3	0.80722	D	1	P;D;P;D	0.89917	0.865;0.999;0.837;1.0	P;D;B;D	0.79108	0.674;0.969;0.373;0.992	D	0.87847	0.2655	10	0.46703	T	0.11	.	17.9052	0.88916	0.0:1.0:0.0:0.0	.	200;200;200;200	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	V	200	ENSP00000263713:A200V;ENSP00000393856:A200V;ENSP00000329687:A200V;ENSP00000393722:A200V;ENSP00000390439:A200V	ENSP00000263713:A200V	A	+	2	0	EPB41L5	120551110	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.500000	0.53318	2.325000	0.78763	0.561000	0.74099	GCT		0.373	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		16	155	0	0	0	1	0	16	155				
EFCAB6	64800	broad.mit.edu	37	22	44079661	44079661	+	Missense_Mutation	SNP	G	G	A	rs567822861		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44079661G>A	ENST00000262726.7	-	12	1470	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A254V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	406	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCAGTGACGCAGAGTGATC	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		22814	0.0		0.0	False		,,,				2504	0.001					ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1216-1218)gCg>gTg		EF-hand calcium binding domain 6							295.0	264.0	274.0					22																	44079661		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44079661G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1217C>T	22.37:g.44079661G>A	ENSP00000262726:p.Ala406Val					EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A254V	p.A406V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			12	1470	-		Ovarian(80;0.0247)|all_neural(38;0.025)	406			EF-hand 4.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1217C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	7.619	0.676507	0.14841	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15139	2.45;2.45	4.8	-4.17	0.03857	.	2.565030	0.01482	N	0.016725	T	0.09992	0.0245	L	0.40543	1.245	0.24638	N	0.993584	B;B	0.32071	0.355;0.152	B;B	0.24006	0.05;0.036	T	0.14531	-1.0469	10	0.15499	T	0.54	2.9402	1.2227	0.01927	0.2719:0.2623:0.3321:0.1337	.	406;406	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	V	254;406	ENSP00000379533:A254V;ENSP00000262726:A406V	ENSP00000262726:A406V	A	-	2	0	EFCAB6	42410994	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.358000	0.02604	-0.763000	0.04658	0.591000	0.81541	GCG		0.363	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		47	91	0	0	0	1	0	47	91				
SLC15A3	51296	broad.mit.edu	37	11	60708695	60708695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60708695C>T	ENST00000227880.3	-	5	1408	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	392					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTCGATCAAGCGGTCCTTCAG	0.577																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(1174-1176)cGc>cAc		solute carrier family 15 (oligopeptide transporter), member 3							82.0	68.0	72.0					11																	60708695		2202	4299	6501	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60708695C>T	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1175G>A	11.37:g.60708695C>T	ENSP00000227880:p.Arg392His						p.R392H	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			5	1408	-			392					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.1175G>A	CCDS7998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.32|12.32	1.903083|1.903083	0.33628|0.33628	.|.	.|.	ENSG00000110446|ENSG00000110446	ENST00000537307|ENST00000227880;ENST00000536491	.|T;T	.|0.66638	.|-0.22;3.6	4.96|4.96	-0.194|-0.194	0.13240|0.13240	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.477772	.|0.19726	.|N	.|0.107479	T|T	0.35828|0.35828	0.0945|0.0945	N|N	0.02539|0.02539	-0.55|-0.55	0.22552|0.22552	N|N	0.998997|0.998997	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.25467|0.25467	-1.0131|-1.0131	5|10	.|0.36615	.|T	.|0.2	-25.0393|-25.0393	9.3336|9.3336	0.38036|0.38036	0.0:0.4065:0.0:0.5935|0.0:0.4065:0.0:0.5935	.|.	.|392	.|Q8IY34	.|S15A3_HUMAN	T|H	58|392;205	.|ENSP00000227880:R392H;ENSP00000439535:R205H	.|ENSP00000227880:R392H	A|R	-|-	1|2	0|0	SLC15A3|SLC15A3	60465271|60465271	0.058000|0.058000	0.20735|0.20735	0.188000|0.188000	0.23233|0.23233	0.987000|0.987000	0.75469|0.75469	0.213000|0.213000	0.17521|0.17521	-0.077000|-0.077000	0.12752|0.12752	-0.290000|-0.290000	0.09829|0.09829	GCT|CGC		0.577	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		12	12	0	0	0	1	0	12	12				
ZNF354B	117608	broad.mit.edu	37	5	178311162	178311162	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178311162G>T	ENST00000322434.3	+	5	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1708-1710)aGa>aTa		zinc finger protein 354B							53.0	52.0	52.0					5																	178311162		2203	4299	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178311162G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1709G>T	5.37:g.178311162G>T	ENSP00000327143:p.Arg570Ile					ZNF354B_ENST00000522714.1_3'UTR	p.R570I	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1935	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	570					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1709G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801604	0.50315	.	.	ENSG00000178338	ENST00000322434	T	0.24908	1.83	3.68	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45013	0.1321	M	0.66939	2.045	0.39938	D	0.974379	D	0.76494	0.999	D	0.71414	0.973	T	0.45308	-0.9270	9	0.72032	D	0.01	-42.4723	10.5802	0.45250	0.0:0.1983:0.8016:0.0	.	570	Q96LW1	Z354B_HUMAN	I	570	ENSP00000327143:R570I	ENSP00000327143:R570I	R	+	2	0	ZNF354B	178243768	0.002000	0.14202	0.936000	0.37596	0.973000	0.67179	1.229000	0.32600	0.724000	0.32296	0.555000	0.69702	AGA		0.343	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		26	36	1	0	9.86323e-18	1	1.2813e-17	26	36				
C1R	715	broad.mit.edu	37	12	7188444	7188444	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188444G>T	ENST00000542285.1	-	11	1503	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M				P00736	C1R_HUMAN	complement component 1, r subcomponent	504					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGGGATACAGGGTGTGGGCA	0.597																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1354-1356)Ctg>Atg		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						60.0	65.0	63.0					12																	7188444		2186	4291	6477	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188444G>T	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1354C>A	12.37:g.7188444G>T	ENSP00000438615:p.Leu452Met						p.L452M			P00736	C1R_HUMAN			11	1503	-			504					A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1354C>A		.	.	.	.	.	.	.	.	.	.	G	13.57	2.276611	0.40294	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.89681	-2.55	5.02	-0.694	0.11294	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.633751	0.14819	N	0.296567	D	0.87601	0.6218	.	.	.	0.21147	N	0.999774	P	0.42456	0.78	P	0.51895	0.683	T	0.78735	-0.2088	9	0.87932	D	0	.	2.1158	0.03713	0.1323:0.2081:0.184:0.4756	.	504	P00736	C1R_HUMAN	M	467;452	ENSP00000438615:L452M	ENSP00000290575:L467M	L	-	1	2	C1R	7058699	0.968000	0.33430	0.895000	0.35142	0.553000	0.35397	0.200000	0.17257	0.093000	0.17368	0.609000	0.83330	CTG		0.597	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		5	22	1	0	0.0215528	1	0.0221649	5	22				
SPEF2	79925	broad.mit.edu	37	5	35792449	35792449	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35792449A>G	ENST00000356031.3	+	31	4609	c.4455A>G	c.(4453-4455)atA>atG	p.I1485M	SPEF2_ENST00000440995.2_Missense_Mutation_p.I1480M|SPEF2_ENST00000303129.4_Missense_Mutation_p.I282M|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1485					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGCATAATAGGAAATAAAG	0.343																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(4438-4440)atA>atG		sperm flagellar 2							86.0	81.0	82.0					5																	35792449		1832	4083	5915	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35792449A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4455A>G	5.37:g.35792449A>G	ENSP00000348314:p.Ile1485Met					SPEF2_ENST00000303129.4_Missense_Mutation_p.I282M|SPEF2_ENST00000356031.3_Missense_Mutation_p.I1485M|CTD-2113L7.1_ENST00000510433.1_RNA	p.I1480M			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		31	4440	+	all_lung(31;7.56e-05)		1485					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.4440A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.283739	0.23392	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.74526	-0.85;-0.85;0.73	5.93	-1.5	0.08691	.	0.220188	0.47852	N	0.000206	T	0.57330	0.2046	L	0.46157	1.445	0.80722	D	1	P;B;B	0.39352	0.669;0.383;0.264	B;B;B	0.38056	0.264;0.066;0.03	T	0.44742	-0.9308	10	0.41790	T	0.15	.	1.7613	0.02992	0.5122:0.1057:0.1753:0.2068	.	282;1480;1485	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	M	1485;1480;282	ENSP00000348314:I1485M;ENSP00000412125:I1480M;ENSP00000303843:I282M	ENSP00000303843:I282M	I	+	3	3	SPEF2	35828206	0.982000	0.34865	0.903000	0.35520	0.554000	0.35429	0.057000	0.14279	-0.117000	0.11872	-0.336000	0.08194	ATA		0.343	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		8	66	0	0	0	1	0	8	66				
CCNT2	905	broad.mit.edu	37	2	135696617	135696617	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135696617A>C	ENST00000264157.5	+	4	445	c.415A>C	c.(415-417)Atg>Ctg	p.M139L	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.M139L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	139					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGAAACCATAATGCTACAAAC	0.284																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(415-417)Atg>Ctg		cyclin T2							123.0	121.0	122.0					2																	135696617		2203	4296	6499	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135696617A>C	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.415A>C	2.37:g.135696617A>C	ENSP00000264157:p.Met139Leu					CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.M139L	p.M139L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	4	445	+			139					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.415A>C	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180049	0.38511	.	.	ENSG00000082258	ENST00000446247;ENST00000295238;ENST00000264157	T;T	0.30182	1.54;1.54	6.07	6.07	0.98685	Cyclin, N-terminal (1);Cyclin-like (3);	0.080997	0.85682	D	0.000000	T	0.07908	0.0198	N	0.00405	-1.535	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.31475	-0.9942	10	0.02654	T	1	.	11.6817	0.51461	0.8679:0.0:0.0:0.1321	.	139;139	O60583;O60583-2	CCNT2_HUMAN;.	L	1;139;139	ENSP00000295238:M139L;ENSP00000264157:M139L	ENSP00000264157:M139L	M	+	1	0	CCNT2	135413087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.738000	0.68613	2.330000	0.79161	0.477000	0.44152	ATG		0.284	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		9	60	0	0	0	1	0	9	60				
FRMPD4	9758	broad.mit.edu	37	X	12734904	12734904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734904T>C	ENST00000380682.1	+	15	2832	c.2326T>C	c.(2326-2328)Tca>Cca	p.S776P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	776					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTGTCTGGGTCAAGCGATGA	0.572																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2326-2328)Tca>Cca		FERM and PDZ domain containing 4							177.0	145.0	156.0					X																	12734904		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734904T>C	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2326T>C	X.37:g.12734904T>C	ENSP00000370057:p.Ser776Pro						p.S776P	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2832	+			776					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2326T>C	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331826	0.81801	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.31769	1.48	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.74881	2.28	0.43360	D	0.995435	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.61019	-0.7147	10	0.87932	D	0	.	14.7586	0.69588	0.0:0.0:0.0:1.0	.	768;776	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	P	776;767;765	ENSP00000370057:S776P	ENSP00000304583:S765P	S	+	1	0	FRMPD4	12644825	1.000000	0.71417	0.274000	0.24659	0.972000	0.66771	7.607000	0.82883	1.866000	0.54105	0.486000	0.48141	TCA		0.572	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		17	127	0	0	0	1	0	17	127				
KIR3DL1	3811	broad.mit.edu	37	19	55331358	55331358	+	Silent	SNP	C	C	T	rs116306767	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55331358C>T	ENST00000391728.4	+	4	579	c.546C>T	c.(544-546)atC>atT	p.I182I	KIR3DL1_ENST00000541392.1_Silent_p.I182I|KIR3DL1_ENST00000402254.2_Silent_p.I182I|KIR3DL1_ENST00000538269.1_Silent_p.I182I|KIR3DL1_ENST00000326542.7_Silent_p.I182I|KIR3DL1_ENST00000358178.4_Silent_p.I87I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	182	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATTTCTCCATCGGTCCCATGA	0.537													c|||	3	0.000599042	0.0015	0.0014	5008	,	,		16190	0.0		0.0	False		,,,				2504	0.0					ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(544-546)atC>atT		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1		C		12,4362		2,8,2177	246.0	214.0	225.0		546	-2.9	0.0	19	dbSNP_132	225	0,8334		0,0,4167	no	coding-synonymous	KIR3DL1	NM_013289.2		2,8,6344	TT,TC,CC		0.0,0.2743,0.0944		182/445	55331358	12,12696	2187	4167	6354	SO:0001819	synonymous_variant	3811							g.chr19:55331358C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.546C>T	19.37:g.55331358C>T						KIR3DL1_ENST00000358178.4_Silent_p.I87I|KIR3DL1_ENST00000326542.7_Silent_p.I182I|KIR3DL1_ENST00000402254.2_Silent_p.I182I|KIR3DL1_ENST00000541392.1_Silent_p.I182I|KIR3DL1_ENST00000538269.1_Silent_p.I182I	p.I182I	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	579	+								O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.546C>T	CCDS42621.1																																																																																				0.537	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		72	191	0	0	0	1	0	72	191				
VWA3A	146177	broad.mit.edu	37	16	22152906	22152906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22152906C>T	ENST00000389398.5	+	24	2483	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	796						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCTCAGCTGCGGCCCAGCCA	0.488																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(2386-2388)gCg>gTg		von Willebrand factor A domain containing 3A							52.0	57.0	55.0					16																	22152906		1999	4176	6175	SO:0001583	missense	146177					extracellular region		g.chr16:22152906C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2387C>T	16.37:g.22152906C>T	ENSP00000374049:p.Ala796Val					VWA3A_ENST00000389397.4_5'UTR	p.A796V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	24	2483	+			796					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.2387C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	7.643	0.681239	0.14907	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.11385	2.78	5.49	3.17	0.36434	.	0.526419	0.19821	N	0.105317	T	0.09202	0.0227	L	0.46741	1.465	0.25243	N	0.989733	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.33940	T	0.23	.	6.2491	0.20835	0.0:0.7506:0.0:0.2494	.	796	A6NCI4	VWA3A_HUMAN	V	796;419	ENSP00000374049:A796V	ENSP00000299840:A419V	A	+	2	0	VWA3A	22060407	0.330000	0.24705	0.298000	0.25002	0.362000	0.29581	0.768000	0.26590	1.461000	0.47929	-0.119000	0.15052	GCG		0.488	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			3	10	0	0	0	1	0	3	10				
SLC12A7	10723	broad.mit.edu	37	5	1093734	1093734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1093734G>A	ENST00000264930.5	-	3	299	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	86					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCTTGTTGAGCAGCGAGGAC	0.687																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(256-258)Ctc>Ttc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						112.0	75.0	88.0					5																	1093734		2202	4298	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1093734G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.256C>T	5.37:g.1093734G>A	ENSP00000264930:p.Leu86Phe						p.L86F	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		3	299	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		86					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.256C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172500	0.78452	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.86097	-2.07	4.14	3.26	0.37387	.	0.000000	0.64402	D	0.000001	D	0.90021	0.6884	M	0.83384	2.64	0.58432	D	0.999994	D	0.63046	0.992	P	0.59643	0.861	D	0.88502	0.3083	10	0.37606	T	0.19	.	10.7248	0.46061	0.0974:0.0:0.9026:0.0	.	86	Q9Y666	S12A7_HUMAN	F	86	ENSP00000264930:L86F	ENSP00000264930:L86F	L	-	1	0	SLC12A7	1146734	1.000000	0.71417	0.915000	0.36163	0.968000	0.65278	6.595000	0.74109	0.859000	0.35456	0.442000	0.29010	CTC		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		7	17	0	0	0	1	0	7	17				
TEP1	7011	broad.mit.edu	37	14	20850092	20850092	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20850092G>A	ENST00000262715.5	-	30	4444	c.4404C>T	c.(4402-4404)tgC>tgT	p.C1468C	TEP1_ENST00000556935.1_Silent_p.C1360C|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1468	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		C -> Y (in dbSNP:rs1713456).		RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.C1468C(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTGGACGAGGCAGGCAAACG	0.607																																						ENST00000262715.5																			1	Substitution - coding silent(1)	p.C1468C(1)	kidney(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(4402-4404)tgC>tgT		telomerase-associated protein 1							147.0	132.0	137.0					14																	20850092		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20850092G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4404C>T	14.37:g.20850092G>A						TEP1_ENST00000556935.1_Silent_p.C1360C|TEP1_ENST00000545983.1_5'UTR	p.C1468C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	30	4444	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1468		C -> Y (in dbSNP:rs1713456).	NACHT.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.4404C>T	CCDS9548.1																																																																																				0.607	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		39	43	0	0	0	1	0	39	43				
LRRC41	10489	broad.mit.edu	37	1	46745251	46745251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46745251G>A	ENST00000343304.6	-	8	2341	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGGCTGGGCGCTTCTCAAAC	0.557																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2056-2058)Cgc>Tgc		leucine rich repeat containing 41							97.0	112.0	107.0					1																	46745251		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46745251G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2056C>T	1.37:g.46745251G>A	ENSP00000343298:p.Arg686Cys					LRRC41_ENST00000472710.1_5'UTR	p.R686C	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			8	2341	-	Acute lymphoblastic leukemia(166;0.155)		686					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2056C>T	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	9.696	1.153258	0.21371	.	.	ENSG00000132128	ENST00000343304	T	0.53640	0.61	4.57	4.57	0.56435	.	0.257192	0.34460	N	0.003943	T	0.23014	0.0556	N	0.08118	0	0.39778	D	0.972259	B;B	0.23891	0.023;0.093	B;B	0.15484	0.002;0.013	T	0.11690	-1.0577	10	0.42905	T	0.14	-18.0221	4.7974	0.13279	0.1381:0.22:0.6419:0.0	.	686;686	Q15345-3;Q15345	.;LRC41_HUMAN	C	686	ENSP00000343298:R686C	ENSP00000343298:R686C	R	-	1	0	LRRC41	46517838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.263000	0.51546	2.368000	0.80403	0.561000	0.74099	CGC		0.557	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		49	99	0	0	0	1	0	49	99				
LRRN4	164312	broad.mit.edu	37	20	6022760	6022760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022760G>T	ENST00000378858.4	-	5	1355	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	377					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGCGGTTGAAGCAAGGTGGGT	0.677																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1129-1131)tgC>tgA		leucine rich repeat neuronal 4							82.0	71.0	75.0					20																	6022760		2203	4300	6503	SO:0001587	stop_gained	164312					integral to membrane		g.chr20:6022760G>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1131C>A	20.37:g.6022760G>T	ENSP00000368135:p.Cys377*						p.C377*	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1355	-			377					A8K258|Q5JWV6|Q9H419	Nonsense_Mutation	SNP	ENST00000378858.4	37	c.1131C>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227517	0.95173	.	.	ENSG00000125872	ENST00000378858	.	.	.	5.04	4.08	0.47627	.	2.309490	0.01486	N	0.016882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.1594	12.645	0.56729	0.0:0.1665:0.8335:0.0	.	.	.	.	X	377	.	ENSP00000368135:C377X	C	-	3	2	LRRN4	5970760	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.063000	0.14410	1.096000	0.41439	-0.264000	0.10439	TGC		0.677	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		20	38	1	0	8.04996e-18	1	1.04647e-17	20	38				
BPTF	2186	broad.mit.edu	37	17	65850685	65850685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65850685G>A	ENST00000321892.4	+	2	1304	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	BPTF_ENST00000335221.5_Missense_Mutation_p.E415K|BPTF_ENST00000424123.3_Missense_Mutation_p.E276K|BPTF_ENST00000306378.6_Missense_Mutation_p.E415K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	415					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATACCATTTGGAATGTGTGAA	0.488																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1243-1245)Gaa>Aaa		bromodomain PHD finger transcription factor							237.0	219.0	225.0					17																	65850685		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65850685G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1243G>A	17.37:g.65850685G>A	ENSP00000315454:p.Glu415Lys					BPTF_ENST00000335221.5_Missense_Mutation_p.E415K|BPTF_ENST00000306378.6_Missense_Mutation_p.E415K|BPTF_ENST00000424123.3_Missense_Mutation_p.E276K	p.E415K			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1304	+	all_cancers(12;6e-11)		415					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1243G>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.118294	0.77323	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.21361	2.01;2.01;2.01	5.62	5.62	0.85841	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.39306	0.1073	L	0.35288	1.05	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.996;0.991;0.995	T	0.14727	-1.0462	9	0.72032	D	0.01	.	19.6584	0.95853	0.0:0.0:1.0:0.0	.	415;415;415	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	320;415;415;415;276	ENSP00000307208:E415K;ENSP00000334351:E415K;ENSP00000315454:E415K	ENSP00000307208:E415K	E	+	1	0	BPTF	63281147	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	GAA		0.488	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		49	93	0	0	0	1	0	49	93				
FBN3	84467	broad.mit.edu	37	19	8159439	8159439	+	Silent	SNP	C	C	T	rs147423270	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8159439C>T	ENST00000600128.1	-	47	6210	c.5796G>A	c.(5794-5796)gaG>gaA	p.E1932E	FBN3_ENST00000601739.1_Silent_p.E1932E|FBN3_ENST00000270509.2_Silent_p.E1932E			Q75N90	FBN3_HUMAN	fibrillin 3	1932	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGAGGCACTCATTGGTGT	0.592																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5794-5796)gaG>gaA		fibrillin 3		C		0,4406		0,0,2203	97.0	69.0	79.0		5796	-1.2	1.0	19	dbSNP_134	79	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	FBN3	NM_032447.3		0,9,6494	TT,TC,CC		0.1047,0.0,0.0692		1932/2810	8159439	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8159439C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5796G>A	19.37:g.8159439C>T						FBN3_ENST00000270509.2_Silent_p.E1932E|FBN3_ENST00000601739.1_Silent_p.E1932E	p.E1932E			Q75N90	FBN3_HUMAN			47	6210	-			1932			EGF-like 31; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.5796G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	4.961	0.178541	0.09443	0.0	0.001047	ENSG00000142449	ENST00000341066	.	.	.	4.82	-1.22	0.09494	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58719	-0.7587	5	0.48119	T	0.1	.	9.4783	0.38884	0.0:0.6288:0.0:0.3712	.	.	.	.	N	52	.	ENSP00000341317:S52N	S	-	2	0	FBN3	8065439	1.000000	0.71417	0.980000	0.43619	0.524000	0.34500	3.605000	0.54088	-0.111000	0.12001	-0.253000	0.11424	AGT		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		6	23	0	0	0	1	0	6	23				
ZNF292	23036	broad.mit.edu	37	6	87943143	87943143	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87943143G>A	ENST00000369577.3	+	5	682	c.639G>A	c.(637-639)aaG>aaA	p.K213K	ZNF292_ENST00000339907.4_Silent_p.K208K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	213						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCTAGCAAAGCTGTGTTCTG	0.358																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(637-639)aaG>aaA		zinc finger protein 292							135.0	131.0	132.0					6																	87943143		1859	4106	5965	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943143G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.639G>A	6.37:g.87943143G>A						ZNF292_ENST00000339907.4_Silent_p.K208K	p.K213K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	682	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	213					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.639G>A	CCDS47457.1																																																																																				0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		35	58	0	0	0	1	0	35	58				
SPAG17	200162	broad.mit.edu	37	1	118634612	118634612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634612G>A	ENST00000336338.5	-	9	1252	c.1187C>T	c.(1186-1188)gCt>gTt	p.A396V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	396						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCTGGTACAGCAGGTTGTGG	0.463																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1186-1188)gCt>gTt		sperm associated antigen 17							180.0	182.0	181.0					1																	118634612		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118634612G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1187C>T	1.37:g.118634612G>A	ENSP00000337804:p.Ala396Val						p.A396V	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	9	1252	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	396					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1187C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	9.973	1.226078	0.22542	.	.	ENSG00000155761	ENST00000336338	T	0.69926	-0.44	5.0	-10.0	0.00425	.	0.833654	0.11114	N	0.598223	T	0.10078	0.0247	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35599	-0.9782	10	0.07325	T	0.83	.	10.4426	0.44474	0.1429:0.3168:0.5402:0.0	.	396	Q6Q759	SPG17_HUMAN	V	396	ENSP00000337804:A396V	ENSP00000337804:A396V	A	-	2	0	SPAG17	118436135	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.047000	0.03521	-1.760000	0.01312	-0.929000	0.02709	GCT		0.463	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		13	236	0	0	0	1	0	13	236				
MLLT4	4301	broad.mit.edu	37	6	168314887	168314887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168314887G>T	ENST00000447894.2	+	16	2077	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S	MLLT4_ENST00000366806.2_Missense_Mutation_p.A693S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A693S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A677S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A693S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A700S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A692S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	693	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTTCTGGATGGCAAATGCATC	0.388			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2077-2079)Gca>Tca		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							86.0	85.0	85.0					6																	168314887		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168314887G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2077G>T	6.37:g.168314887G>T	ENSP00000404595:p.Ala693Ser					MLLT4_ENST00000400822.3_Missense_Mutation_p.A692S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A677S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A693S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A700S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A693S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A693S	p.A693S			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	16	2219	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	693			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2077G>T		.	.	.	.	.	.	.	.	.	.	G	32	5.125822	0.94429	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.08807	3.23;3.38;3.24;3.19;3.05;3.08;3.08	6.07	6.07	0.98685	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;0.998;1.0;0.988	T	0.00149	-1.1988	10	0.39692	T	0.17	-28.2903	20.6525	0.99598	0.0:0.0:1.0:0.0	.	693;692;693;677	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	S	693;700;693;693;677;693;692;693	ENSP00000341118:A693S;ENSP00000252692:A700S;ENSP00000375956:A693S;ENSP00000355771:A693S;ENSP00000375960:A677S;ENSP00000383623:A692S;ENSP00000404595:A693S	ENSP00000345834:A693S	A	+	1	0	MLLT4	168057736	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.666000	0.98612	2.890000	0.99128	0.585000	0.79938	GCA		0.388	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		5	60	1	0	0.014758	1	0.0152625	5	60				
TMPRSS3	64699	broad.mit.edu	37	21	43808547	43808547	+	Silent	SNP	G	G	A	rs142784113		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43808547G>A	ENST00000291532.3	-	5	1366	c.411C>T	c.(409-411)taC>taT	p.Y137Y	TMPRSS3_ENST00000433957.2_Silent_p.Y137Y|TMPRSS3_ENST00000380399.1_Silent_p.Y221Y|TMPRSS3_ENST00000398397.3_Silent_p.Y137Y|TMPRSS3_ENST00000398405.1_Silent_p.Y135Y|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	137	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAACATTTGCGTAGTGACCCT	0.512																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(409-411)taC>taT		transmembrane protease, serine 3		G	,	0,4406		0,0,2203	157.0	137.0	144.0		411,411	-7.1	0.0	21	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMPRSS3	NM_024022.2,NM_032405.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	137/455,137/345	43808547	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43808547G>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.411C>T	21.37:g.43808547G>A						TMPRSS3_ENST00000398397.3_Silent_p.Y137Y|TMPRSS3_ENST00000380399.1_Silent_p.Y221Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.Y137Y|TMPRSS3_ENST00000398405.1_Silent_p.Y135Y	p.Y137Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			5	1366	-			137			SRCR.		D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	c.411C>T	CCDS13686.1																																																																																				0.512	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			47	81	0	0	0	1	0	47	81				
LPIN2	9663	broad.mit.edu	37	18	2921602	2921602	+	Silent	SNP	G	G	A	rs373520277		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2921602G>A	ENST00000261596.4	-	18	2609	c.2371C>T	c.(2371-2373)Cta>Tta	p.L791L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	791	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATATCATTTAGACACTCAATT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		17984	0.0		0.001	False		,,,				2504	0.0					ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2371-2373)Cta>Tta		lipin 2		G		0,4406		0,0,2203	116.0	113.0	114.0		2371	4.9	1.0	18		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LPIN2	NM_014646.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		791/897	2921602	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2921602G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2371C>T	18.37:g.2921602G>A							p.L791L	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	18	2609	-			791			C-LIP.		A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.2371C>T	CCDS11829.1																																																																																				0.403	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		4	71	0	0	0	1	0	4	71				
CEP162	22832	broad.mit.edu	37	6	84865120	84865120	+	Missense_Mutation	SNP	A	A	C	rs560930481		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865120A>C	ENST00000403245.3	-	22	3005	c.2891T>G	c.(2890-2892)tTt>tGt	p.F964C	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.F888C	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTCTCCATAAATTCCACTGT	0.388																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2890-2892)tTt>tGt		KIAA1009							143.0	138.0	140.0					6																	84865120		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84865120A>C																												ENST00000403245.3:c.2891T>G	6.37:g.84865120A>C	ENSP00000385215:p.Phe964Cys					KIAA1009_ENST00000257766.4_Missense_Mutation_p.F888C|KIAA1009_ENST00000461137.1_5'UTR	p.F964C	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	22	3005	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	964						Missense_Mutation	SNP	ENST00000403245.3	37	c.2891T>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011609	0.75046	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.20738	2.05;2.06	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000007	T	0.39835	0.1093	M	0.78637	2.42	0.42538	D	0.993067	D	0.89917	1.0	D	0.85130	0.997	T	0.41233	-0.9520	10	0.66056	D	0.02	-16.5188	15.3331	0.74229	1.0:0.0:0.0:0.0	.	964	Q5TB80	QN1_HUMAN	C	888;964	ENSP00000257766:F888C;ENSP00000385215:F964C	ENSP00000257766:F888C	F	-	2	0	KIAA1009	84921839	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.750000	0.91623	2.067000	0.61834	0.533000	0.62120	TTT		0.388	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			5	61	0	0	0	1	0	5	61				
SYNM	23336	broad.mit.edu	37	15	99672460	99672460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672460G>A	ENST00000336292.6	+	5	4012	c.3892G>A	c.(3892-3894)Gaa>Aaa	p.E1298K	SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1299	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGTACACATGGAAGGGTTGCC	0.532																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(3892-3894)Gaa>Aaa		synemin, intermediate filament protein							137.0	142.0	140.0					15																	99672460		2097	4229	6326	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672460G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3892G>A	15.37:g.99672460G>A	ENSP00000336775:p.Glu1298Lys					SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	p.E1298K	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4012	+			1299			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.3892G>A		.	.	.	.	.	.	.	.	.	.	G	11.61	1.690792	0.29962	.	.	ENSG00000182253	ENST00000336292	D	0.82893	-1.66	4.89	1.15	0.20763	.	.	.	.	.	T	0.71143	0.3305	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.54925	-0.8220	8	0.31617	T	0.26	.	7.8907	0.29675	0.0933:0.4704:0.4363:0.0	.	1299	O15061	SYNEM_HUMAN	K	1298	ENSP00000336775:E1298K	ENSP00000336775:E1298K	E	+	1	0	SYNM	97489983	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.093000	0.15086	-0.090000	0.12462	0.563000	0.77884	GAA		0.532	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		49	91	0	0	0	1	0	49	91				
H3F3C	440093	broad.mit.edu	37	12	31944956	31944956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31944956G>A	ENST00000340398.3	-	1	219	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	49					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(145-147)Cga>Tga		H3 histone, family 3C							68.0	64.0	65.0					12																	31944956		2203	4300	6503	SO:0001587	stop_gained	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944956G>A	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.145C>T	12.37:g.31944956G>A	ENSP00000339835:p.Arg49*	HNSCC(67;0.2)					p.R49*	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	219	-			49					E9P281	Nonsense_Mutation	SNP	ENST00000340398.3	37	c.145C>T	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101334	0.56183	.	.	ENSG00000188375	ENST00000340398	.	.	.	1.3	0.33	0.15929	.	54.597900	0.00883	U	0.002159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7129	0.17945	0.2063:0.0:0.7937:0.0	.	.	.	.	X	49	.	ENSP00000339835:R49X	R	-	1	2	H3F3C	31836223	0.908000	0.30866	0.001000	0.08648	0.040000	0.13550	1.468000	0.35332	0.126000	0.18424	0.413000	0.27773	CGA		0.602	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		20	26	0	0	0	1	0	20	26				
SERPINI1	5274	broad.mit.edu	37	3	167510432	167510432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167510432C>T	ENST00000295777.5	+	4	967	c.536C>T	c.(535-537)gCc>gTc	p.A179V	SERPINI1_ENST00000446050.2_Missense_Mutation_p.A179V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	179					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ACTTATCTGGCCCTCATTAAT	0.368																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(535-537)gCc>gTc		serpin peptidase inhibitor, clade I (neuroserpin), member 1							94.0	93.0	93.0					3																	167510432		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167510432C>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.536C>T	3.37:g.167510432C>T	ENSP00000295777:p.Ala179Val					SERPINI1_ENST00000446050.2_Missense_Mutation_p.A179V	p.A179V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			4	967	+			179					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.536C>T	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.219220	0.01542	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000472747	D;D;D	0.82344	-1.6;-1.6;-1.6	5.68	3.88	0.44766	Serpin domain (3);	0.282172	0.42172	D	0.000759	T	0.51058	0.1652	N	0.00859	-1.14	0.80722	D	1	B	0.18610	0.029	B	0.15870	0.014	T	0.56438	-0.7979	10	0.02654	T	1	.	9.9922	0.41879	0.0:0.7327:0.0:0.2673	.	179	Q99574	NEUS_HUMAN	V	179	ENSP00000397373:A179V;ENSP00000295777:A179V;ENSP00000420561:A179V	ENSP00000295777:A179V	A	+	2	0	SERPINI1	168993126	0.955000	0.32602	1.000000	0.80357	0.258000	0.26162	1.948000	0.40303	1.406000	0.46857	-0.373000	0.07131	GCC		0.368	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			36	52	0	0	0	1	0	36	52				
HNRNPLL	92906	broad.mit.edu	37	2	38796365	38796365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38796365G>A	ENST00000449105.3	-	10	1665	c.1326C>T	c.(1324-1326)ggC>ggT	p.G442G	HNRNPLL_ENST00000608859.1_Silent_p.G442G|HNRNPLL_ENST00000409328.1_Silent_p.G408G|HNRNPLL_ENST00000378915.3_Silent_p.G408G|HNRNPLL_ENST00000409636.1_Silent_p.G437G			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	442					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										TAGATGCTTGGCCAGCACTTG	0.403																																						ENST00000449105.2																			0											c.(1324-1326)ggC>ggT		heterogeneous nuclear ribonucleoprotein L-like							135.0	126.0	129.0					2																	38796365		2203	4300	6503	SO:0001819	synonymous_variant	92906							g.chr2:38796365G>A	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1326C>T	2.37:g.38796365G>A						HNRNPLL_ENST00000409328.1_Silent_p.G408G|HNRNPLL_ENST00000409636.1_Silent_p.G437G|HNRNPLL_ENST00000378915.3_Silent_p.G408G	p.G442G	NM_138394.3	NP_612403.2					10	1665	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Silent	SNP	ENST00000449105.3	37	c.1326C>T		.	.	.	.	.	.	.	.	.	.	G	8.977	0.974492	0.18736	.	.	ENSG00000143889	ENST00000441689	.	.	.	5.32	2.36	0.29203	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47886	-0.9082	4	.	.	.	0.0831	7.0558	0.25099	0.2117:0.0:0.6625:0.1258	.	.	.	.	S	49	.	.	P	-	1	0	HNRPLL	38649869	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.517000	0.22832	0.665000	0.31066	0.467000	0.42956	CCA		0.403	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		35	44	0	0	0	1	0	35	44				
ERLEC1	27248	broad.mit.edu	37	2	54021567	54021567	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54021567T>C	ENST00000185150.4	+	2	379	c.248T>C	c.(247-249)cTt>cCt	p.L83P	GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L83P|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L83P|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	83					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATACTTCCCCTTGTGACAAGT	0.294																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(247-249)cTt>cCt		endoplasmic reticulum lectin 1							55.0	55.0	55.0					2																	54021567		2203	4294	6497	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54021567T>C	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.248T>C	2.37:g.54021567T>C	ENSP00000185150:p.Leu83Pro					ERLEC1_ENST00000405123.3_Missense_Mutation_p.L83P|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L83P|GPR75-ASB3_ENST00000352846.3_Intron	p.L83P	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN			2	379	+			83					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.248T>C	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962355	0.34659	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.42900	0.96;0.96	5.52	5.52	0.82312	.	0.074752	0.64402	D	0.000012	T	0.32496	0.0831	.	.	.	0.58432	D	0.999999	B;B;B	0.19817	0.006;0.028;0.039	B;B;B	0.18263	0.021;0.007;0.007	T	0.08764	-1.0706	8	.	.	.	-12.5033	15.6326	0.76923	0.0:0.0:0.0:1.0	.	83;83;83	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	P	83	ENSP00000385629:L83P;ENSP00000185150:L83P	.	L	+	2	0	ERLEC1	53875071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.544000	0.67231	2.084000	0.62774	0.528000	0.53228	CTT		0.294	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		17	12	0	0	0	1	0	17	12				
BCAM	4059	broad.mit.edu	37	19	45322860	45322860	+	Missense_Mutation	SNP	C	C	A	rs200219071		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45322860C>A	ENST00000270233.6	+	13	1662	c.1640C>A	c.(1639-1641)gCt>gAt	p.A547D	BCAM_ENST00000589651.1_Missense_Mutation_p.A547D	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	547					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACCTCCCAGGCTGGAGTGGCC	0.687																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1639-1641)gCt>gAt		basal cell adhesion molecule (Lutheran blood group)			ASP/ALA,ASP/ALA	0,4406		0,0,2203	33.0	33.0	33.0		1640,1640	4.1	1.0	19		33	1,8591		0,1,4295	no	missense,missense	BCAM	NM_001013257.1,NM_005581.3	126,126	0,1,6498	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	547/589,547/629	45322860	1,12997	2203	4296	6499	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322860C>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1640C>A	19.37:g.45322860C>A	ENSP00000270233:p.Ala547Asp					BCAM_ENST00000270233.6_Missense_Mutation_p.A547D	p.A547D			P50895	BCAM_HUMAN			13	1684	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	547					A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1640C>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	19.80	3.894810	0.72639	0.0	1.16E-4	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.60299	0.2;0.27	4.14	4.14	0.48551	.	.	.	.	.	T	0.60261	0.2255	L	0.27053	0.805	0.34402	D	0.695366	D	0.89917	1.0	D	0.80764	0.994	T	0.61987	-0.6949	9	0.17832	T	0.49	-19.8883	12.3827	0.55315	0.0:1.0:0.0:0.0	.	547	P50895	BCAM_HUMAN	D	547	ENSP00000270233:A547D;ENSP00000375817:A547D	ENSP00000270233:A547D	A	+	2	0	BCAM	50014700	0.957000	0.32711	0.994000	0.49952	0.857000	0.48899	2.139000	0.42149	2.054000	0.61138	0.531000	0.56144	GCT		0.687	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		13	22	1	0	0.00185496	1	0.00197886	13	22				
LRP6	4040	broad.mit.edu	37	12	12312848	12312848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12312848G>A	ENST00000261349.4	-	11	2406	c.2330C>T	c.(2329-2331)gCa>gTa	p.A777V	LRP6_ENST00000543091.1_Missense_Mutation_p.A777V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	777	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCATCCATTGCAGCTCTGTC	0.368																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2329-2331)gCa>gTa		low density lipoprotein receptor-related protein 6							137.0	123.0	128.0					12																	12312848		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12312848G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2330C>T	12.37:g.12312848G>A	ENSP00000261349:p.Ala777Val					LRP6_ENST00000543091.1_Missense_Mutation_p.A777V	p.A777V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			11	2406	-		Prostate(47;0.0865)	777			Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2330C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498726	0.26861	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91237	-2.81;-2.81	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.201088	0.32852	N	0.005570	D	0.86957	0.6058	L	0.59436	1.845	0.51482	D	0.999929	B;P	0.45986	0.395;0.87	B;B	0.33846	0.022;0.171	D	0.85709	0.1318	10	0.17369	T	0.5	.	19.3212	0.94240	0.0:0.0:1.0:0.0	.	777;777	F5H7J9;O75581	.;LRP6_HUMAN	V	777	ENSP00000261349:A777V;ENSP00000442472:A777V	ENSP00000261349:A777V	A	-	2	0	LRP6	12204115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.311000	0.65786	2.575000	0.86900	0.561000	0.74099	GCA		0.368	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			12	94	0	0	0	1	0	12	94				
CHD6	84181	broad.mit.edu	37	20	40141613	40141613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141613C>A	ENST00000373233.3	-	5	901	c.724G>T	c.(724-726)Gta>Tta	p.V242L	CHD6_ENST00000373222.3_Missense_Mutation_p.V277L|CHD6_ENST00000309279.7_Missense_Mutation_p.V242L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	242	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCGCTTTACTTGCCTTCCC	0.478																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(724-726)Gta>Tta		chromodomain helicase DNA binding protein 6							433.0	358.0	383.0					20																	40141613		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40141613C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.724G>T	20.37:g.40141613C>A	ENSP00000362330:p.Val242Leu					CHD6_ENST00000373222.3_Missense_Mutation_p.V277L|CHD6_ENST00000309279.7_Missense_Mutation_p.V242L	p.V242L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			5	901	-		Myeloproliferative disorder(115;0.00425)	242					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.724G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262412	0.95368	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.55052	0.54;0.54;0.54	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000063	T	0.72382	0.3453	M	0.68317	2.08	0.58432	D	0.999999	D;D	0.76494	0.999;0.978	D;P	0.81914	0.995;0.78	T	0.73836	-0.3857	10	0.62326	D	0.03	-15.9922	19.3358	0.94319	0.0:1.0:0.0:0.0	.	277;242	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	L	242;242;277	ENSP00000362330:V242L;ENSP00000308684:V242L;ENSP00000362319:V277L	ENSP00000308684:V242L	V	-	1	0	CHD6	39575027	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.399000	0.79935	2.578000	0.87016	0.655000	0.94253	GTA		0.478	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			28	289	1	0	4.34311e-12	1	5.44287e-12	28	289				
USH2A	7399	broad.mit.edu	37	1	216061838	216061838	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216061838G>A	ENST00000307340.3	-	41	8539	c.8153C>T	c.(8152-8154)aCc>aTc	p.T2718I	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T2718I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2718	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTCTTGTGGTAACTTCTAC	0.507										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8152-8154)aCc>aTc		Usher syndrome 2A (autosomal recessive, mild)							86.0	81.0	83.0					1																	216061838		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216061838G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8153C>T	1.37:g.216061838G>A	ENSP00000305941:p.Thr2718Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2718I|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2718I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8539	-			2718			Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8153C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496319	0.44352	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55930	0.49;0.49	5.73	3.81	0.43845	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000476	T	0.49355	0.1552	M	0.72118	2.19	0.45076	D	0.998092	P	0.50272	0.933	P	0.44860	0.462	T	0.49634	-0.8919	10	0.49607	T	0.09	.	3.5574	0.07869	0.143:0.1351:0.582:0.1399	.	2718	O75445	USH2A_HUMAN	I	2718	ENSP00000305941:T2718I;ENSP00000355910:T2718I	ENSP00000305941:T2718I	T	-	2	0	USH2A	214128461	1.000000	0.71417	0.796000	0.32109	0.774000	0.43823	3.403000	0.52615	0.724000	0.32296	0.655000	0.94253	ACC		0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	23	0	0	0	1	0	17	23				
CRAMP1L	57585	broad.mit.edu	37	16	1710039	1710039	+	Silent	SNP	G	G	A	rs367945579		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1710039G>A	ENST00000397412.3	+	11	2487	c.2388G>A	c.(2386-2388)ccG>ccA	p.P796P	CRAMP1L_ENST00000436138.3_Silent_p.P793P|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.P174P|CRAMP1L_ENST00000293925.5_Silent_p.P796P			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	796						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGACCTTCCCGCCCAGCTCTG	0.682																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2386-2388)ccG>ccA		Crm, cramped-like (Drosophila)		G		0,4262		0,0,2131	21.0	27.0	25.0		2388	-9.9	0.0	16		25	2,8450		0,2,4224	no	coding-synonymous	CRAMP1L	NM_020825.3		0,2,6355	AA,AG,GG		0.0237,0.0,0.0157		796/1270	1710039	2,12712	2131	4226	6357	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1710039G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2388G>A	16.37:g.1710039G>A						CRAMP1L_ENST00000262317.4_Silent_p.P174P|CRAMP1L_ENST00000293925.5_Silent_p.P796P|CRAMP1L_ENST00000436138.3_Silent_p.P793P|LA16c-431H6.6_ENST00000454337.1_3'UTR	p.P796P			Q96RY5	CRML_HUMAN			11	2487	+			796					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.2388G>A	CCDS10440.2																																																																																				0.682	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			7	5	0	0	0	1	0	7	5				
PTCHD1	139411	broad.mit.edu	37	X	23398059	23398059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398059G>A	ENST00000379361.4	+	2	1563	c.703G>A	c.(703-705)Gac>Aac	p.D235N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	235					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAGCTTCTGCGACACTGTCAG	0.512																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(703-705)Gac>Aac		patched domain containing 1							221.0	205.0	211.0					X																	23398059		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398059G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.703G>A	X.37:g.23398059G>A	ENSP00000368666:p.Asp235Asn						p.D235N	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1563	+			235					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.703G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466047	0.26335	.	.	ENSG00000165186	ENST00000379361	D	0.85773	-2.03	5.39	4.51	0.55191	.	0.350072	0.33938	N	0.004404	T	0.72447	0.3461	N	0.19112	0.55	0.25364	N	0.988757	B;B	0.24823	0.03;0.112	B;B	0.29598	0.011;0.104	T	0.56408	-0.7984	10	0.13108	T	0.6	.	9.4089	0.38480	0.1637:0.0:0.8363:0.0	.	130;235	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	N	235	ENSP00000368666:D235N	ENSP00000368666:D235N	D	+	1	0	PTCHD1	23307980	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	3.509000	0.53386	2.381000	0.81170	0.600000	0.82982	GAC		0.512	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		101	160	0	0	0	1	0	101	160				
CNTN4	152330	broad.mit.edu	37	3	3095607	3095607	+	Silent	SNP	C	C	T	rs372526897		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3095607C>T	ENST00000397461.1	+	23	3312	c.2928C>T	c.(2926-2928)agC>agT	p.S976S	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Silent_p.S976S|CNTN4_ENST00000397459.2_Silent_p.S648S|CNTN4_ENST00000427331.1_Silent_p.S976S|CNTN4_ENST00000358480.3_Silent_p.S757S|CNTN4_ENST00000448906.2_Silent_p.S648S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	976	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCCATTCAGCGACGGAGGAG	0.388																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2926-2928)agC>agT		contactin 4		T	,,,	0,4406		0,0,2203	95.0	104.0	101.0		2928,1941,2928,1944	-9.2	0.1	3		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	976/1027,647/698,976/1027,648/699	3095607	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3095607C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2928C>T	3.37:g.3095607C>T						CNTN4_ENST00000427331.1_Silent_p.S976S|CNTN4_ENST00000358480.3_Silent_p.S757S|CNTN4_ENST00000418658.1_Silent_p.S976S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.S648S|CNTN4_ENST00000448906.2_Silent_p.S648S	p.S976S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	23	3312	+		Ovarian(110;0.156)	976			Fibronectin type-III 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.2928C>T	CCDS43041.1																																																																																				0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			18	35	0	0	0	1	0	18	35				
ANGPT4	51378	broad.mit.edu	37	20	896851	896851	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896851A>T	ENST00000381922.3	-	1	109	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	ANGPT4_ENST00000546022.1_Missense_Mutation_p.S3T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	3					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTAGCTGGGAGAGCATCTGA	0.607																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(7-9)Tcc>Acc		angiopoietin 4							64.0	58.0	60.0					20																	896851		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896851A>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.7T>A	20.37:g.896851A>T	ENSP00000371347:p.Ser3Thr					ANGPT4_ENST00000546022.1_Missense_Mutation_p.S3T	p.S3T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			1	109	-			3					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.7T>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	A	3.276	-0.147996	0.06627	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.50548	0.74;1.57	4.27	0.357	0.16079	.	0.805788	0.10145	N	0.710366	T	0.28466	0.0704	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.23691	-1.0181	10	0.13108	T	0.6	.	2.8284	0.05491	0.5989:0.0:0.2141:0.187	.	3	Q9Y264	ANGP4_HUMAN	T	3	ENSP00000371347:S3T;ENSP00000439605:S3T	ENSP00000371347:S3T	S	-	1	0	ANGPT4	844851	0.047000	0.20315	0.011000	0.14972	0.013000	0.08279	1.625000	0.37029	0.259000	0.21709	0.254000	0.18369	TCC		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		6	31	0	0	0	1	0	6	31				
ANKRD13A	88455	broad.mit.edu	37	12	110456215	110456215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110456215C>T	ENST00000261739.4	+	5	632	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	156						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGCCAAACTGCGCGTCGATAT	0.438																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(466-468)Cgc>Tgc		ankyrin repeat domain 13A							134.0	127.0	129.0					12																	110456215		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110456215C>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.466C>T	12.37:g.110456215C>T	ENSP00000261739:p.Arg156Cys					ANKRD13A_ENST00000550404.1_3'UTR	p.R156C	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			5	632	+			156					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.466C>T	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384823	0.61956	.	.	ENSG00000076513	ENST00000261739	T	0.73789	-0.78	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87334	0.6151	M	0.85373	2.75	0.80722	D	1	P;D;P	0.89917	0.939;1.0;0.939	B;D;B	0.91635	0.391;0.999;0.391	D	0.88908	0.3357	10	0.87932	D	0	-17.1918	15.1571	0.72752	0.1412:0.8588:0.0:0.0	.	156;156;156	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	C	156	ENSP00000261739:R156C	ENSP00000261739:R156C	R	+	1	0	ANKRD13A	108940598	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	4.711000	0.61881	2.648000	0.89879	0.650000	0.86243	CGC		0.438	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		22	33	0	0	0	1	0	22	33				
GORASP2	26003	broad.mit.edu	37	2	171822309	171822309	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822309C>A	ENST00000234160.4	+	10	1843	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	GORASP2_ENST00000452526.2_Missense_Mutation_p.P355H|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	343	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGTCTGCCACCTCTTCCTTCC	0.498																																						ENST00000234160.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(1027-1029)cCt>cAt		golgi reassembly stacking protein 2, 55kDa							183.0	137.0	153.0					2																	171822309		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171822309C>A		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.1028C>A	2.37:g.171822309C>A	ENSP00000234160:p.Pro343His					GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.P355H	p.P343H	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN			10	1843	+			343			Pro-rich.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.1028C>A	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010076	0.75046	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.46819	0.86;0.86	5.61	5.61	0.85477	.	0.248892	0.40640	N	0.001043	T	0.67401	0.2889	M	0.68952	2.095	0.43598	D	0.995954	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.63488	0.915;0.87;0.87	T	0.69228	-0.5200	10	0.72032	D	0.01	-14.1597	19.6394	0.95751	0.0:1.0:0.0:0.0	.	299;355;343	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	H	343;355	ENSP00000234160:P343H;ENSP00000410208:P355H	ENSP00000234160:P343H	P	+	2	0	GORASP2	171530555	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.114000	0.64648	2.637000	0.89404	0.655000	0.94253	CCT		0.498	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			4	48	1	0	5.9392e-07	1	6.91975e-07	4	48				
THAP5	168451	broad.mit.edu	37	7	108205181	108205181	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:108205181A>G	ENST00000415914.3	-	3	795	c.642T>C	c.(640-642)agT>agC	p.S214S	THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Silent_p.S172S|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	214					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTGATGAATACTTTCTGAAT	0.328																																						ENST00000415914.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(640-642)agT>agC		THAP domain containing 5							52.0	52.0	52.0					7																	108205181		2202	4297	6499	SO:0001819	synonymous_variant	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108205181A>G	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.642T>C	7.37:g.108205181A>G						THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Silent_p.S172S|THAP5_ENST00000493722.1_5'UTR	p.S214S	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN			3	795	-			214						Silent	SNP	ENST00000415914.3	37	c.642T>C	CCDS47687.1																																																																																				0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		43	35	0	0	0	1	0	43	35				
BRMS1L	84312	broad.mit.edu	37	14	36339592	36339592	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36339592A>G	ENST00000216807.7	+	10	1080	c.881A>G	c.(880-882)gAt>gGt	p.D294G	BRMS1L_ENST00000543183.1_Missense_Mutation_p.D246G	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	294					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ATTAACCATGATGAAGTTTGG	0.279																																						ENST00000216807.7																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(880-882)gAt>gGt		breast cancer metastasis-suppressor 1-like							116.0	128.0	124.0					14																	36339592		2203	4294	6497	SO:0001583	missense	84312				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr14:36339592A>G	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.881A>G	14.37:g.36339592A>G	ENSP00000216807:p.Asp294Gly					BRMS1L_ENST00000543183.1_Missense_Mutation_p.D246G	p.D294G	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)	10	1080	+	Breast(36;0.137)|Hepatocellular(127;0.158)		294					A6NFW5|A6NH45|B2RD65|Q9BRI4	Missense_Mutation	SNP	ENST00000216807.7	37	c.881A>G	CCDS32066.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233723	0.39498	.	.	ENSG00000100916	ENST00000216807;ENST00000543183	.	.	.	5.86	5.86	0.93980	.	0.042112	0.85682	D	0.000000	T	0.60025	0.2237	L	0.28115	0.83	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.54337	-0.8309	9	0.05721	T	0.95	-22.4987	16.2668	0.82588	1.0:0.0:0.0:0.0	.	294	Q5PSV4	BRM1L_HUMAN	G	294;246	.	ENSP00000216807:D294G	D	+	2	0	BRMS1L	35409343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.942000	0.92970	2.240000	0.73641	0.533000	0.62120	GAT		0.279	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		13	107	0	0	0	1	0	13	107				
NBEAL2	23218	broad.mit.edu	37	3	47043273	47043273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47043273G>A	ENST00000450053.3	+	30	4918	c.4739G>A	c.(4738-4740)gGc>gAc	p.G1580D	NBEAL2_ENST00000292309.5_Missense_Mutation_p.G1396D|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1580					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGCAGATTGGCCTACGGCTT	0.607																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4738-4740)gGc>gAc		neurobeachin-like 2							90.0	94.0	93.0					3																	47043273		2117	4253	6370	SO:0001583	missense	23218						binding	g.chr3:47043273G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4739G>A	3.37:g.47043273G>A	ENSP00000415034:p.Gly1580Asp					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.G1396D	p.G1580D	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	30	4918	+		Acute lymphoblastic leukemia(5;0.0534)	1580					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4739G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.767111|4.767111	0.90020|0.90020	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.58210	.|0.39;0.35	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69788|0.69788	0.3150|0.3150	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.73380	.|0.98	T|T	0.69738|0.69738	-0.5064|-0.5064	5|10	.|0.45353	.|T	.|0.12	.|.	17.308|17.308	0.87200|0.87200	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1580	.|Q6ZNJ1	.|NBEL2_HUMAN	T|D	868|1396;1580	.|ENSP00000292309:G1396D;ENSP00000415034:G1580D	.|ENSP00000292309:G1396D	A|G	+|+	1|2	0|0	NBEAL2|NBEAL2	47018277|47018277	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.903000|0.903000	0.53119|0.53119	9.771000|9.771000	0.98977|0.98977	2.433000|2.433000	0.82419|0.82419	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.607	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		45	51	0	0	0	1	0	45	51				
PCDHGB6	56100	broad.mit.edu	37	5	140788094	140788094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788094G>A	ENST00000520790.1	+	1	325	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGAAGCTGTGGTGGAAAA	0.403																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(325-327)Gtg>Atg									164.0	172.0	170.0					5																	140788094		1854	4084	5938	SO:0001583	missense	0							g.chr5:140788094G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.325G>A	5.37:g.140788094G>A	ENSP00000428603:p.Val109Met					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V109M	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	325	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.325G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	14.44	2.537560	0.45176	.	.	ENSG00000253305	ENST00000520790	T	0.34275	1.37	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60894	0.2304	M	0.85542	2.76	0.23120	N	0.998264	D;D	0.60160	0.972;0.987	P;P	0.58660	0.808;0.843	T	0.57877	-0.7735	9	0.48119	T	0.1	.	16.1672	0.81777	0.0:0.1331:0.8669:0.0	.	109;109	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	M	109	ENSP00000428603:V109M	ENSP00000428603:V109M	V	+	1	0	PCDHGB6	140768278	0.990000	0.36364	0.983000	0.44433	0.810000	0.45777	2.954000	0.49113	2.517000	0.84864	0.467000	0.42956	GTG		0.403	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		41	67	0	0	0	1	0	41	67				
KRT33A	3883	broad.mit.edu	37	17	39502798	39502798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39502798C>A	ENST00000007735.3	-	6	1043	c.999G>T	c.(997-999)gaG>gaT	p.E333D		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	333	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTTCTGCCGCTCCAGGTCAC	0.632																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(997-999)gaG>gaT		keratin 33A							66.0	67.0	67.0					17																	39502798		2203	4297	6500	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502798C>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.999G>T	17.37:g.39502798C>A	ENSP00000007735:p.Glu333Asp						p.E333D	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			6	1043	-		Breast(137;0.000496)	333			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.999G>T	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.913908	0.72983	.	.	ENSG00000006059	ENST00000007735	D	0.89617	-2.54	4.55	3.58	0.41010	Filament (1);	0.000000	0.64402	D	0.000003	D	0.91656	0.7363	M	0.90369	3.11	0.30296	N	0.789876	P	0.40681	0.727	P	0.46975	0.533	D	0.89993	0.4109	10	0.72032	D	0.01	.	8.3628	0.32369	0.0:0.8219:0.0:0.1781	.	333	O76009	KT33A_HUMAN	D	333	ENSP00000007735:E333D	ENSP00000007735:E333D	E	-	3	2	KRT33A	36756324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.674000	0.61612	1.256000	0.44068	0.655000	0.94253	GAG		0.632	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		21	35	1	0	4.26978e-12	1	5.35206e-12	21	35				
FANCM	57697	broad.mit.edu	37	14	45633578	45633578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45633578G>A	ENST00000267430.5	+	10	1683	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	FANCM_ENST00000542564.2_Missense_Mutation_p.R507H|FANCM_ENST00000556036.1_Missense_Mutation_p.R533H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAACAGTTTCGTGACGGTGGT	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1597-1599)cGt>cAt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							111.0	109.0	110.0					14																	45633578		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45633578G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1598G>A	14.37:g.45633578G>A	ENSP00000267430:p.Arg533His					FANCM_ENST00000556036.1_Missense_Mutation_p.R533H|FANCM_ENST00000542564.2_Missense_Mutation_p.R507H	p.R533H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			10	1683	+			533			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1598G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231534	0.95207	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.77489	-1.1;-1.1;-1.1	6.04	6.04	0.98038	Helicase, C-terminal (3);	0.168401	0.52532	D	0.000073	D	0.91553	0.7332	M	0.92268	3.29	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	D	0.92438	0.5959	10	0.87932	D	0	.	20.2347	0.98355	0.0:0.0:1.0:0.0	.	507;533;533	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	H	533;533;507	ENSP00000450596:R533H;ENSP00000267430:R533H;ENSP00000442493:R507H	ENSP00000267430:R533H	R	+	2	0	FANCM	44703328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.432000	0.97498	2.881000	0.98747	0.650000	0.86243	CGT		0.368	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		19	33	0	0	0	1	0	19	33				
USH2A	7399	broad.mit.edu	37	1	216419934	216419934	+	Silent	SNP	A	A	G	rs201527662	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216419934A>G	ENST00000307340.3	-	13	3188	c.2802T>C	c.(2800-2802)tgT>tgC	p.C934C	USH2A_ENST00000366942.3_Silent_p.C934C|USH2A_ENST00000366943.2_Silent_p.C934C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	934	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACCTGGTTGACACTGATTAC	0.433										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2800-2802)tgT>tgC		Usher syndrome 2A (autosomal recessive, mild)							156.0	153.0	154.0					1																	216419934		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216419934A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2802T>C	1.37:g.216419934A>G		HNSCC(13;0.011)				USH2A_ENST00000366942.3_Silent_p.C934C|USH2A_ENST00000307340.3_Silent_p.C934C	p.C934C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	3188	-			934			Laminin EGF-like 8.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.2802T>C	CCDS31025.1																																																																																				0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		38	40	0	0	0	1	0	38	40				
C19orf44	84167	broad.mit.edu	37	19	16612323	16612323	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16612323C>T	ENST00000221671.3	+	2	876	c.720C>T	c.(718-720)agC>agT	p.S240S	C19orf44_ENST00000594035.1_Silent_p.S240S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	240										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GCTTCAGCAGCGCTAACGTCA	0.318																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(718-720)agC>agT		chromosome 19 open reading frame 44							53.0	54.0	54.0					19																	16612323		2200	4297	6497	SO:0001819	synonymous_variant	84167							g.chr19:16612323C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.720C>T	19.37:g.16612323C>T						C19orf44_ENST00000594035.1_Silent_p.S240S|CTD-3222D19.2_ENST00000409035.1_Intron	p.S240S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	876	+			240					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.720C>T	CCDS12345.1																																																																																				0.318	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		17	49	0	0	0	1	0	17	49				
UGT2A3	79799	broad.mit.edu	37	4	69796420	69796420	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69796420T>C	ENST00000251566.4	-	5	1178	c.1148A>G	c.(1147-1149)tAc>tGc	p.Y383C	UGT2A3_ENST00000420231.2_Missense_Mutation_p.Y94C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	383					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCATGGTAAATAGCTTC	0.398																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1147-1149)tAc>tGc		UDP glucuronosyltransferase 2 family, polypeptide A3							58.0	59.0	59.0					4																	69796420		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796420T>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1148A>G	4.37:g.69796420T>C	ENSP00000251566:p.Tyr383Cys					UGT2A3_ENST00000420231.2_Missense_Mutation_p.Y94C	p.Y383C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			5	1178	-			383					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1148A>G	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	1.241	-0.621235	0.03636	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63417	-0.04;3.15	1.99	0.626	0.17670	.	0.143827	0.48286	D	0.000190	T	0.65512	0.2698	M	0.69358	2.11	0.31958	N	0.608794	D	0.89917	1.0	D	0.97110	1.0	T	0.65096	-0.6251	10	0.08599	T	0.76	.	2.5154	0.04667	0.0:0.1789:0.2939:0.5272	.	383	Q6UWM9	UD2A3_HUMAN	C	383;94	ENSP00000251566:Y383C;ENSP00000440115:Y94C	ENSP00000251566:Y383C	Y	-	2	0	UGT2A3	69831009	1.000000	0.71417	0.003000	0.11579	0.081000	0.17604	1.950000	0.40323	0.022000	0.15160	-0.619000	0.04042	TAC		0.398	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		11	51	0	0	0	1	0	11	51				
DLC1	10395	broad.mit.edu	37	8	13356887	13356887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356887C>T	ENST00000276297.4	-	2	1103	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLC1_ENST00000511869.1_Missense_Mutation_p.A232T|DLC1_ENST00000316609.5_Missense_Mutation_p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	232					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTGCTGAGCAATTACAGCA	0.393																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(694-696)Gct>Act		deleted in liver cancer 1							155.0	154.0	154.0					8																	13356887		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356887C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.694G>A	8.37:g.13356887C>T	ENSP00000276297:p.Ala232Thr					DLC1_ENST00000316609.5_Missense_Mutation_p.A232T|DLC1_ENST00000511869.1_Missense_Mutation_p.A232T	p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	1103	-			232					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.694G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633447	0.47049	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.20332	3.07;2.08;2.11	4.84	3.94	0.45596	.	0.000000	0.38381	N	0.001719	T	0.23330	0.0564	L	0.27053	0.805	0.27494	N	0.952185	P;D;B	0.55605	0.873;0.972;0.006	B;P;B	0.51806	0.403;0.68;0.008	T	0.04347	-1.0958	10	0.42905	T	0.14	.	13.9491	0.64104	0.0:0.9255:0.0:0.0745	.	232;232;232	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	T	232	ENSP00000276297:A232T;ENSP00000321034:A232T;ENSP00000425878:A232T	ENSP00000276297:A232T	A	-	1	0	DLC1	13401258	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.985000	0.40668	1.354000	0.45846	0.655000	0.94253	GCT		0.393	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		14	207	0	0	0	1	0	14	207				
MTMR10	54893	broad.mit.edu	37	15	31239394	31239394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31239394C>T	ENST00000435680.1	-	14	1584	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	MTMR10_ENST00000314404.8_Missense_Mutation_p.R248Q|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.R414Q	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	496	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGTGAGATCCGGGTGCTGTC	0.502																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1486-1488)cGg>cAg		myotubularin related protein 10							185.0	186.0	185.0					15																	31239394		1951	4169	6120	SO:0001583	missense	54893						phosphatase activity	g.chr15:31239394C>T	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1487G>A	15.37:g.31239394C>T	ENSP00000402537:p.Arg496Gln					MTMR10_ENST00000563714.1_Missense_Mutation_p.R414Q|MTMR10_ENST00000314404.8_Missense_Mutation_p.R248Q|MTMR10_ENST00000425768.1_3'UTR	p.R496Q	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	14	1584	-		all_lung(180;2.81e-11)	496			Myotubularin phosphatase.		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.1487G>A	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216721	0.58452	.	.	ENSG00000166912	ENST00000435680;ENST00000314404;ENST00000340566	D;D	0.90069	-2.61;-2.61	5.77	3.9	0.45041	Myotubularin phosphatase domain (1);	0.168483	0.53938	D	0.000041	D	0.86414	0.5927	L	0.46614	1.455	0.80722	D	1	D;P;D;D	0.65815	0.986;0.683;0.995;0.988	B;B;P;P	0.45558	0.42;0.098;0.485;0.485	D	0.85848	0.1402	10	0.62326	D	0.03	.	12.6518	0.56766	0.0:0.8661:0.0:0.1339	.	265;414;414;496	Q0IJ45;Q9NXD2-2;A6NGL9;Q9NXD2	.;.;.;MTMRA_HUMAN	Q	496;248;414	ENSP00000402537:R496Q;ENSP00000313788:R248Q	ENSP00000313788:R248Q	R	-	2	0	MTMR10	29026686	0.998000	0.40836	0.680000	0.29994	0.441000	0.31987	2.498000	0.45363	0.792000	0.33850	0.561000	0.74099	CGG		0.502	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		39	56	0	0	0	1	0	39	56				
ESPN	83715	broad.mit.edu	37	1	6520200	6520200	+	Missense_Mutation	SNP	G	G	T	rs141783157	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6520200G>T	ENST00000377828.1	+	13	2727	c.2559G>T	c.(2557-2559)aaG>aaT	p.K853N	ESPN_ENST00000461727.1_Missense_Mutation_p.K287N|ESPN_ENST00000416731.1_Missense_Mutation_p.K287N	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	853					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACATCGCTAAGTACTAGAGGC	0.662																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(2557-2559)aaG>aaT		espin							39.0	41.0	40.0					1																	6520200		2203	4300	6503	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6520200G>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2559G>T	1.37:g.6520200G>T	ENSP00000367059:p.Lys853Asn					ESPN_ENST00000461727.1_Missense_Mutation_p.K287N|ESPN_ENST00000416731.1_Missense_Mutation_p.K287N	p.K853N	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	13	2727	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	853					Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.2559G>T	CCDS70.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.998709	0.74818	.	.	ENSG00000187017	ENST00000377828;ENST00000416731	T;D	0.87809	-0.85;-2.3	4.32	4.32	0.51571	.	1.003210	0.08034	N	0.993984	D	0.93096	0.7802	M	0.65975	2.015	0.36009	D	0.837901	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.90556	0.4512	10	0.87932	D	0	-22.4815	14.3356	0.66586	0.0:0.0:1.0:0.0	.	287;853	B1AK53-2;B1AK53	.;ESPN_HUMAN	N	853;287	ENSP00000367059:K853N;ENSP00000399239:K287N	ENSP00000367059:K853N	K	+	3	2	ESPN	6442787	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	6.984000	0.76186	1.945000	0.56424	0.450000	0.29827	AAG		0.662	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		4	31	1	0	0.184627	1	0.186383	4	31				
BCLAF1	9774	broad.mit.edu	37	6	136582540	136582540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136582540C>A	ENST00000531224.1	-	12	2872	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	BCLAF1_ENST00000527536.1_Missense_Mutation_p.G825W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G701W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G872W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G823W|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G92W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G823W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	874					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAAAGCGCCCTCTGCCACGT	0.423																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2620-2622)Ggg>Tgg		BCL2-associated transcription factor 1							226.0	225.0	225.0					6																	136582540		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582540C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2620G>T	6.37:g.136582540C>A	ENSP00000435210:p.Gly874Trp					BCLAF1_ENST00000392348.2_Missense_Mutation_p.G823W|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G92W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G823W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G701W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G872W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G825W	p.G874W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2872	-	Colorectal(23;0.24)		874					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2620G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.423782|3.423782	0.62733|0.62733	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|T	0.55588|0.59638	2.25;2.54;2.54;2.01;2.25;0.51;2.54|0.25	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.49218|0.49218	0.1544|0.1544	L|L	0.36672|0.36672	1.1|1.1	0.49915|0.49915	D|D	0.999839|0.999839	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.91635|.	0.977;0.999;0.988;0.977;0.994|.	T|T	0.56329|0.56329	-0.7997|-0.7997	10|7	0.87932|0.87932	D|D	0|0	-3.1599|-3.1599	12.712|12.712	0.57094|0.57094	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	872;153;823;874;701|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	W|M	874;823;825;701;872;92;823|140	ENSP00000435210:G874W;ENSP00000229446:G823W;ENSP00000435441:G825W;ENSP00000436501:G701W;ENSP00000434826:G872W;ENSP00000031135:G92W;ENSP00000376159:G823W|ENSP00000437018:R140M	ENSP00000031135:G92W|ENSP00000437018:R140M	G|R	-|-	1|2	0|0	BCLAF1|BCLAF1	136624233|136624233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.771000|4.771000	0.62318|0.62318	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		57	254	1	0	9.72345e-25	1	1.29067e-24	57	254				
CEP63	80254	broad.mit.edu	37	3	134278117	134278117	+	Missense_Mutation	SNP	G	G	A	rs199974219		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134278117G>A	ENST00000337090.3	+	14	1972	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	CEP63_ENST00000606977.1_Missense_Mutation_p.S600N|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S600N|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	600					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCCCCCTGAGTCCTCAAATC	0.453																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1798-1800)aGt>aAt		centrosomal protein 63kDa							180.0	176.0	178.0					3																	134278117		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278117G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1799G>A	3.37:g.134278117G>A	ENSP00000336524:p.Ser600Asn					CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S600N|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.S600N	p.S600N			Q96MT8	CEP63_HUMAN			14	1972	+			600					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1799G>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	6.492	0.458881	0.12342	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.21361	2.01;2.01	4.83	2.99	0.34606	.	0.402421	0.25060	N	0.033454	T	0.25975	0.0633	M	0.66939	2.045	0.19775	N	0.999952	P	0.40534	0.72	B	0.43728	0.429	T	0.08391	-1.0724	10	0.22109	T	0.4	-5.5585	11.4915	0.50383	0.0:0.3477:0.6523:0.0	.	600	Q96MT8	CEP63_HUMAN	N	600	ENSP00000336524:S600N;ENSP00000426129:S600N	ENSP00000336524:S600N	S	+	2	0	CEP63	135760807	0.877000	0.30153	0.150000	0.22450	0.121000	0.20230	2.971000	0.49248	0.599000	0.29845	0.650000	0.86243	AGT		0.453	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		79	102	0	0	0	1	0	79	102				
PPP2R2D	55844	broad.mit.edu	37	10	133761112	133761112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133761112G>A	ENST00000422256.2	+	5	703	c.218G>A	c.(217-219)aGt>aAt	p.S73N	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	300					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GTAAAATTCAGTCATAGTGGG	0.463																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(217-219)aGt>aAt		protein phosphatase 2, regulatory subunit B, delta							68.0	67.0	67.0					10																	133761112		1926	4166	6092	SO:0001583	missense	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133761112G>A	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.218G>A	10.37:g.133761112G>A	ENSP00000406501:p.Ser73Asn					PPP2R2D_ENST00000470416.1_3'UTR	p.S73N			Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	5	703	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	300					A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37	c.218G>A		.	.	.	.	.	.	.	.	.	.	G	12.72	2.021486	0.35701	.	.	ENSG00000175470	ENST00000455566;ENST00000422256	T;T	0.36157	1.27;1.27	3.07	3.07	0.35406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.088149	0.85682	D	0.000000	T	0.35941	0.0949	.	.	.	0.80722	D	1	B	0.29136	0.234	B	0.34180	0.177	T	0.47548	-0.9109	9	0.72032	D	0.01	-20.7982	14.9899	0.71377	0.0:0.0:1.0:0.0	.	300	Q66LE6	2ABD_HUMAN	N	269;73	ENSP00000399970:S269N;ENSP00000406501:S73N	ENSP00000406501:S73N	S	+	2	0	PPP2R2D	133611102	1.000000	0.71417	0.941000	0.38009	0.042000	0.13812	8.622000	0.90953	2.028000	0.59812	0.655000	0.94253	AGT		0.463	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		4	46	0	0	0	1	0	4	46				
PAPOLA	10914	broad.mit.edu	37	14	97009208	97009208	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97009208G>A	ENST00000216277.8	+	14	1487	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	PAPOLA_ENST00000392990.2_Missense_Mutation_p.A423T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	423					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCATTTCCAGCACCCAAAGA	0.383																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(1267-1269)Gca>Aca		poly(A) polymerase alpha							112.0	121.0	118.0					14																	97009208		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97009208G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1267G>A	14.37:g.97009208G>A	ENSP00000216277:p.Ala423Thr					PAPOLA_ENST00000392990.2_Missense_Mutation_p.A423T	p.A423T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	14	1487	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	423					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1267G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896842	0.72639	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.42	5.42	0.78866	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.057867	0.64402	D	0.000002	T	0.56891	0.2016	L	0.47190	1.495	0.80722	D	1	B;B;B	0.20550	0.016;0.046;0.046	B;B;B	0.16722	0.009;0.016;0.016	T	0.52396	-0.8581	9	0.17369	T	0.5	.	19.2242	0.93812	0.0:0.0:1.0:0.0	.	439;439;423	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	T	423;439;423;173	.	ENSP00000216277:A423T	A	+	1	0	PAPOLA	96078961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.553000	0.86117	0.591000	0.81541	GCA		0.383	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			33	82	0	0	0	1	0	33	82				
SLC51A	200931	broad.mit.edu	37	3	195953912	195953912	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195953912G>T	ENST00000296327.5	+	3	419	c.210G>T	c.(208-210)gaG>gaT	p.E70D		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	70					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TCTTCCTGGAGGATGCCGTCT	0.627																																						ENST00000296327.5																			0											c.(208-210)gaG>gaT		solute carrier family 51, alpha subunit							133.0	116.0	122.0					3																	195953912		2203	4300	6503	SO:0001583	missense	200931							g.chr3:195953912G>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.210G>T	3.37:g.195953912G>T	ENSP00000296327:p.Glu70Asp						p.E70D	NM_152672.5	NP_689885.4					3	419	+								Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	c.210G>T	CCDS3314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.514429|3.514429	0.64522|0.64522	.|.	.|.	ENSG00000163959|ENSG00000163959	ENST00000296327|ENST00000428985	T|.	0.51817|.	0.69|.	5.63|5.63	1.88|1.88	0.25563|0.25563	.|.	0.284575|.	0.24820|.	N|.	0.035335|.	T|T	0.64148|0.64148	0.2572|0.2572	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.978|.	D;P|.	0.83275|.	0.996;0.588|.	T|T	0.58901|0.58901	-0.7554|-0.7554	10|5	0.36615|.	T|.	0.2|.	.|.	8.3483|8.3483	0.32286|0.32286	0.4897:0.0:0.5103:0.0|0.4897:0.0:0.5103:0.0	.|.	70;70|.	B4DVA3;Q86UW1|.	.;OSTA_HUMAN|.	D|M	70|41	ENSP00000296327:E70D|.	ENSP00000296327:E70D|.	E|R	+|+	3|2	2|0	AC069257.9|AC069257.9	197438309|197438309	0.891000|0.891000	0.30450|0.30450	0.993000|0.993000	0.49108|0.49108	0.591000|0.591000	0.36615|0.36615	0.207000|0.207000	0.17395|0.17395	0.064000|0.064000	0.16427|0.16427	-0.253000|-0.253000	0.11424|0.11424	GAG|AGG		0.627	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		23	58	1	0	7.87624e-14	1	1.00187e-13	23	58				
ELMSAN1	91748	broad.mit.edu	37	14	74189447	74189447	+	Missense_Mutation	SNP	G	G	A	rs148804472	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74189447G>A	ENST00000286523.5	-	10	3460	c.2678C>T	c.(2677-2679)aCg>aTg	p.T893M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.T893M	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	893					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CTCATCGCTCGTATCCACATC	0.542																																						ENST00000286523.5																			0											c.(2677-2679)aCg>aTg		ELM2 and Myb/SANT-like domain containing 1		G	MET/THR,MET/THR	0,4406		0,0,2203	218.0	191.0	200.0		2678,2678	1.6	0.0	14	dbSNP_134	200	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense	C14orf43	NM_001043318.1,NM_194278.3	81,81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	893/1046,893/1046	74189447	3,13003	2203	4300	6503	SO:0001583	missense	91748							g.chr14:74189447G>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2678C>T	14.37:g.74189447G>A	ENSP00000286523:p.Thr893Met					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.T893M	p.T893M	NM_194278.3	NP_919254.2					10	3460	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.2678C>T	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	G	6.560	0.471617	0.12461	0.0	3.49E-4	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.48	1.6	0.23607	.	0.702224	0.13247	N	0.402351	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P;P	0.39131	0.661;0.533	B;B	0.26864	0.074;0.074	T	0.12604	-1.0541	10	0.46703	T	0.11	1.0139	6.3982	0.21624	0.4063:0.1179:0.4758:0.0	.	893;893	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	893	ENSP00000377634:T893M;ENSP00000286523:T893M;ENSP00000407767:T893M;ENSP00000402380:T893M	ENSP00000286523:T893M	T	-	2	0	C14orf43	73259200	0.000000	0.05858	0.003000	0.11579	0.063000	0.16089	-0.007000	0.12810	0.031000	0.15407	0.561000	0.74099	ACG		0.542	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		89	130	0	0	0	1	0	89	130				
PIAS4	51588	broad.mit.edu	37	19	4033559	4033559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4033559G>A	ENST00000262971.2	+	9	1238	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	375					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCCTACGACCAGCTCAT	0.677																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1123-1125)Gac>Aac		protein inhibitor of activated STAT, 4							25.0	23.0	24.0					19																	4033559		2200	4296	6496	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4033559G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1123G>A	19.37:g.4033559G>A	ENSP00000262971:p.Asp375Asn						p.D375N	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1238	+			375					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.1123G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844236	0.71488	.	.	ENSG00000105229	ENST00000262971	T	0.18016	2.24	4.21	3.17	0.36434	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.051677	0.85682	D	0.000000	T	0.15046	0.0363	M	0.68593	2.085	0.54753	D	0.999985	P	0.47484	0.896	B	0.31245	0.126	T	0.06232	-1.0838	10	0.56958	D	0.05	-29.9437	10.9068	0.47084	0.0924:0.0:0.9075:0.0	.	375	Q8N2W9	PIAS4_HUMAN	N	375	ENSP00000262971:D375N	ENSP00000262971:D375N	D	+	1	0	PIAS4	3984559	1.000000	0.71417	0.982000	0.44146	0.600000	0.36913	9.755000	0.98912	0.765000	0.33221	0.561000	0.74099	GAC		0.677	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		4	4	0	0	0	1	0	4	4				
TLDC2	140711	broad.mit.edu	37	20	35507461	35507461	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35507461A>G	ENST00000217320.3	+	3	251	c.207A>G	c.(205-207)ccA>ccG	p.P69P	TLDC2_ENST00000602922.1_Silent_p.P69P	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	69																	TTCACTTCCCACCAAGAGTCA	0.627																																						ENST00000217320.3																			0											c.(205-207)ccA>ccG		TBC/LysM-associated domain containing 2							124.0	97.0	106.0					20																	35507461		2203	4300	6503	SO:0001819	synonymous_variant	140711							g.chr20:35507461A>G	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.207A>G	20.37:g.35507461A>G						TLDC2_ENST00000602922.1_Silent_p.P69P	p.P69P	NM_080628.1	NP_542195.1					3	251	+								B3KVU8	Silent	SNP	ENST00000217320.3	37	c.207A>G	CCDS33465.1																																																																																				0.627	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		4	77	0	0	0	1	0	4	77				
CAPSL	133690	broad.mit.edu	37	5	35921206	35921206	+	Missense_Mutation	SNP	C	C	T	rs368551299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921206C>T	ENST00000397367.2	-	2	143	c.17G>A	c.(16-18)cGc>cAc	p.R6H	CAPSL_ENST00000514524.1_Missense_Mutation_p.R6H|CAPSL_ENST00000397366.1_Missense_Mutation_p.R6H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	6						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCGGTCATGGCGCGCTGTCCC	0.612																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(16-18)cGc>cAc		calcyphosine-like							80.0	70.0	73.0					5																	35921206		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35921206C>T	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.17G>A	5.37:g.35921206C>T	ENSP00000380524:p.Arg6His					CAPSL_ENST00000397366.1_Missense_Mutation_p.R6H|CAPSL_ENST00000514524.1_Missense_Mutation_p.R6H	p.R6H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		2	143	-	all_lung(31;0.000268)		6						Missense_Mutation	SNP	ENST00000397367.2	37	c.17G>A	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554084	0.86231	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;D	0.84442	-1.71;-1.71;-1.82;-1.85	4.8	4.8	0.61643	.	0.000000	0.45867	U	0.000321	D	0.92864	0.7730	M	0.85542	2.76	0.48696	D	0.999699	D	0.89917	1.0	D	0.70016	0.967	D	0.93912	0.7198	10	0.66056	D	0.02	-5.1337	17.813	0.88622	0.0:1.0:0.0:0.0	.	6	Q8WWF8	CAPSL_HUMAN	H	6	ENSP00000380524:R6H;ENSP00000380523:R6H;ENSP00000424806:R6H;ENSP00000421018:R6H	ENSP00000380523:R6H	R	-	2	0	CAPSL	35956963	1.000000	0.71417	0.979000	0.43373	0.621000	0.37620	6.839000	0.75364	2.367000	0.80283	0.563000	0.77884	CGC		0.612	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		10	18	0	0	0	1	0	10	18				
P2RY8	286530	broad.mit.edu	37	X	1585028	1585028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1585028C>T	ENST00000381297.4	-	2	634	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.A142S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACACGCGGCCACCGCGTAA	0.682			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		1	Substitution - Missense(1)	p.A142S(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(424-426)Gcc>Acc		purinergic receptor P2Y, G-protein coupled, 8							55.0	52.0	53.0					X																	1585028		2202	4293	6495	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585028C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.424G>A	X.37:g.1585028C>T	ENSP00000370697:p.Ala142Thr						p.A142T	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	634	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	142						Missense_Mutation	SNP	ENST00000381297.4	37	c.424G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	9.240	1.038101	0.19669	.	.	ENSG00000182162	ENST00000381297	T	0.72942	-0.7	2.26	-0.189	0.13260	GPCR, rhodopsin-like superfamily (1);	0.969228	0.08388	U	0.953371	T	0.62441	0.2428	L	0.46819	1.47	0.09310	N	1	P	0.42584	0.784	P	0.45753	0.492	T	0.52873	-0.8517	10	0.22706	T	0.39	.	3.5594	0.07877	0.1618:0.5645:0.158:0.1157	.	142	Q86VZ1	P2RY8_HUMAN	T	142	ENSP00000370697:A142T	ENSP00000370697:A142T	A	-	1	0	P2RY8	1545028	0.995000	0.38212	0.691000	0.30163	0.147000	0.21601	2.538000	0.45710	0.740000	0.32651	0.279000	0.19357	GCC		0.682	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		8	8	0	0	0	1	0	8	8				
PGLYRP4	57115	broad.mit.edu	37	1	153312884	153312884	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153312884C>A	ENST00000359650.5	-	7	861	c.797G>T	c.(796-798)aGg>aTg	p.R266M	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R262M	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	266					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACTTGAGCCTGTCTATGTA	0.517																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(784-786)aGg>aTg		peptidoglycan recognition protein 4							107.0	104.0	105.0					1																	153312884		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312884C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.797G>T	1.37:g.153312884C>A	ENSP00000352672:p.Arg266Met					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R266M	p.R262M			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1143	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		266					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.785G>T	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259455	0.23051	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.14766	2.48;2.48	3.64	1.71	0.24356	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.360322	0.23891	N	0.043551	T	0.10078	0.0247	M	0.66939	2.045	0.21355	N	0.999717	D;D	0.56287	0.969;0.975	P;P	0.52343	0.57;0.696	T	0.06499	-1.0823	10	0.56958	D	0.05	-28.187	5.1755	0.15133	0.0:0.7277:0.0:0.2723	.	262;266	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	M	262;266	ENSP00000357728:R262M;ENSP00000352672:R266M	ENSP00000352672:R266M	R	-	2	0	PGLYRP4	151579508	0.000000	0.05858	0.561000	0.28357	0.120000	0.20174	-0.960000	0.03849	0.825000	0.34637	0.655000	0.94253	AGG		0.517	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		24	48	1	0	4.7796e-09	1	5.77107e-09	24	48				
GART	2618	broad.mit.edu	37	21	34911618	34911618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34911618C>T	ENST00000381831.3	-	2	267	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GART_ENST00000381815.4_Missense_Mutation_p.A2T|GART_ENST00000361093.5_Missense_Mutation_p.A2T|GART_ENST00000381839.3_Missense_Mutation_p.A2T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	2					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACTCGGGCTGCCATTGTTCTG	0.443																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(4-6)Gca>Aca		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						99.0	95.0	96.0					21																	34911618		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34911618C>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.4G>A	21.37:g.34911618C>T	ENSP00000371253:p.Ala2Thr					GART_ENST00000381815.4_Missense_Mutation_p.A2T|GART_ENST00000381839.3_Missense_Mutation_p.A2T|GART_ENST00000361093.5_Missense_Mutation_p.A2T	p.A2T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			2	267	-			2					A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.4G>A	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024213	0.54683	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819;ENST00000438059;ENST00000441403	T;T;T;T;T;T;T;T	0.45276	1.5;1.5;1.5;1.5;0.9;0.9;0.93;0.93	5.64	0.187	0.15109	PreATP-grasp-like fold (1);	0.435164	0.26578	N	0.023586	T	0.23330	0.0564	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04078	-1.0979	10	0.48119	T	0.1	-4.3491	3.6611	0.08238	0.2688:0.431:0.0:0.3002	.	2	P22102	PUR2_HUMAN	T	2	ENSP00000371236:A2T;ENSP00000371253:A2T;ENSP00000371261:A2T;ENSP00000354388:A2T;ENSP00000413040:A2T;ENSP00000398631:A2T;ENSP00000413803:A2T;ENSP00000407783:A2T	ENSP00000354388:A2T	A	-	1	0	GART	33833488	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	1.637000	0.37155	0.020000	0.15106	-0.140000	0.14226	GCA		0.443	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		4	59	0	0	0	1	0	4	59				
MCF2L	23263	broad.mit.edu	37	13	113699134	113699134	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113699134C>T	ENST00000375608.3	+	5	426				MCF2L_ENST00000397021.1_Silent_p.S32S|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375601.3_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCGTAGCCATGCCACCA	0.557																																						ENST00000397021.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(94-96)agC>agT		MCF.2 cell line derived transforming sequence-like							81.0	74.0	76.0					13																	113699134		876	1991	2867	SO:0001627	intron_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113699134C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.369-451C>T	13.37:g.113699134C>T						MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000423482.2_Intron	p.S32S			O15068	MCF2L_HUMAN			1	159	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	0					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.96C>T																																																																																					0.557	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			10	28	0	0	0	1	0	10	28				
EPS15	2060	broad.mit.edu	37	1	51875340	51875340	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51875340T>C	ENST00000371733.3	-	14	1238	c.1142A>G	c.(1141-1143)aAt>aGt	p.N381S	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Missense_Mutation_p.N58S|EPS15_ENST00000371730.2_Missense_Mutation_p.N381S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	381					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGATTAGTATTCTCCCTTTG	0.398			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1141-1143)aAt>aGt		epidermal growth factor receptor pathway substrate 15							115.0	109.0	111.0					1																	51875340		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51875340T>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1142A>G	1.37:g.51875340T>C	ENSP00000360798:p.Asn381Ser					EPS15_ENST00000371730.2_Missense_Mutation_p.N381S|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Missense_Mutation_p.N58S	p.N381S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			14	1238	-			381					B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1142A>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	6.938	0.542873	0.13250	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;D;T	0.82255	1.55;-1.59;1.01	5.54	-1.06	0.10002	.	0.469274	0.15857	N	0.241220	T	0.47673	0.1458	N	0.00788	-1.185	0.24499	N	0.99426	B;B;B	0.23128	0.08;0.0;0.0	B;B;B	0.16289	0.015;0.002;0.004	T	0.51663	-0.8677	10	0.06757	T	0.87	.	7.8652	0.29533	0.0:0.5139:0.1355:0.3505	.	381;381;67	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	S	381;381;58	ENSP00000360795:N381S;ENSP00000360798:N381S;ENSP00000379428:N58S	ENSP00000360795:N381S	N	-	2	0	EPS15	51647928	0.974000	0.33945	0.973000	0.42090	0.951000	0.60555	0.371000	0.20450	-0.136000	0.11475	-0.371000	0.07208	AAT		0.398	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		6	60	0	0	0	1	0	6	60				
CHAF1A	10036	broad.mit.edu	37	19	4418033	4418033	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4418033T>C	ENST00000301280.5	+	4	1078	c.977T>C	c.(976-978)gTc>gCc	p.V326A		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	326	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAAATTCGTCAAAGGCTCT	0.348								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(976-978)gTc>gCc	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							85.0	89.0	88.0					19																	4418033		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4418033T>C	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.977T>C	19.37:g.4418033T>C	ENSP00000301280:p.Val326Ala						p.V326A	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1078	+		Hepatocellular(1079;0.137)	326			Arg/Glu/Lys-rich.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.977T>C	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	T	5.767	0.325895	0.10900	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.04603	3.59	4.87	3.86	0.44501	.	.	.	.	.	T	0.05181	0.0138	L	0.44542	1.39	0.19300	N	0.999979	B	0.15930	0.015	B	0.15870	0.014	T	0.38001	-0.9681	9	0.87932	D	0	-20.6486	4.3644	0.11218	0.187:0.0957:0.0:0.7173	.	326	Q13111	CAF1A_HUMAN	A	326	ENSP00000301280:V326A	ENSP00000301280:V326A	V	+	2	0	CHAF1A	4369033	0.036000	0.19791	0.094000	0.20943	0.556000	0.35491	0.615000	0.24329	0.728000	0.32382	0.460000	0.39030	GTC		0.348	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		4	65	0	0	0	1	0	4	65				
CCKBR	887	broad.mit.edu	37	11	6291971	6291971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6291971G>A	ENST00000334619.2	+	4	942	c.749G>A	c.(748-750)cGc>cAc	p.R250H	CCKBR_ENST00000532715.1_Missense_Mutation_p.R166H|CCKBR_ENST00000525462.1_Missense_Mutation_p.R250H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	250					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTAGGGCTTCGCTTTGACGGC	0.602																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(748-750)cGc>cAc		cholecystokinin B receptor	Pentagastrin(DB00183)						120.0	91.0	101.0					11																	6291971		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291971G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.749G>A	11.37:g.6291971G>A	ENSP00000335544:p.Arg250His					CCKBR_ENST00000334619.2_Missense_Mutation_p.R250H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R166H	p.R250H			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	752	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	208					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.749G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562349	0.45694	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.42513	0.97;0.97;0.97	5.79	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.280488	0.38005	N	0.001848	T	0.31575	0.0801	L	0.35793	1.09	0.42558	D	0.99313	B;B;B	0.24963	0.115;0.011;0.014	B;B;B	0.16289	0.013;0.008;0.015	T	0.11324	-1.0592	10	0.45353	T	0.12	.	10.2187	0.43184	0.1543:0.0:0.8457:0.0	.	250;184;250	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	H	250;166;250	ENSP00000335544:R250H;ENSP00000432079:R166H;ENSP00000435534:R250H	ENSP00000335544:R250H	R	+	2	0	CCKBR	6248547	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.899000	0.56288	1.422000	0.47177	0.655000	0.94253	CGC		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		5	57	0	0	0	1	0	5	57				
CDKN2A	1029	broad.mit.edu	37	9	21971038	21971038	+	Missense_Mutation	SNP	C	C	T	rs370823171		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21971038C>T	ENST00000304494.5	-	2	590	c.320G>A	c.(319-321)cGc>cAc	p.R107H	CDKN2A_ENST00000361570.3_Silent_p.A162A|CDKN2A_ENST00000530628.2_Silent_p.A121A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000579755.1_Silent_p.A121A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R56H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	107			R -> C (in CMM2). {ECO:0000269|PubMed:8710906}.|R -> H.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGGCATCGCGCACGTCCAG	0.746		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1365	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(319-321)cGc>cAc		cyclin-dependent kinase inhibitor 2A		C	HIS/ARG,HIS/ARG,,	0,4394		0,0,2197	16.0	18.0	17.0		320,320,363,	1.8	1.0	9		17	1,8575		0,1,4287	no	missense,missense,coding-synonymous,utr-3	CDKN2A	NM_000077.4,NM_001195132.1,NM_058195.3,NM_058197.4	29,29,,	0,1,6484	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,,	107/157,107/168,121/133,	21971038	1,12969	2197	4288	6485	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971038C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.320G>A	9.37:g.21971038C>T	ENSP00000307101:p.Arg107His	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.A162A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000530628.2_Silent_p.A121A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000579755.1_Silent_p.A121A|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R56H	p.R107H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	590	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	107		R -> C (in CMM2).|R -> H.			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.320G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385006	0.42308	0.0	1.17E-4	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.93763	-3.28;-3.28	5.93	1.77	0.24775	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.87474	0.6186	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.78679	-0.2110	8	0.27785	T	0.31	-12.4171	9.1588	0.37009	0.0:0.6381:0.1578:0.2041	.	107	P42771	CD2A1_HUMAN	H	107	ENSP00000307101:R107H;ENSP00000394932:R107H	ENSP00000307101:R107H	R	-	2	0	CDKN2A	21961038	0.004000	0.15560	1.000000	0.80357	0.467000	0.32768	-0.054000	0.11826	0.426000	0.26116	-0.797000	0.03246	CGC		0.746	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	10	0	0	0	1	0	6	10				
UMODL1	89766	broad.mit.edu	37	21	43524044	43524044	+	Missense_Mutation	SNP	G	G	A	rs142481877	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524044G>A	ENST00000408910.2	+	9	1366	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M	UMODL1_ENST00000400427.1_Missense_Mutation_p.V384M|C21orf128_ENST00000329015.2_Silent_p.H63H|UMODL1_ENST00000408989.2_Missense_Mutation_p.V456M|UMODL1_ENST00000400424.2_Missense_Mutation_p.V384M	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	456	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCAGATCGTGTCTCTCCA	0.592													G|||	7	0.00139776	0.0045	0.0014	5008	,	,		19293	0.0		0.0	False		,,,				2504	0.0				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1150-1152)Gtg>Atg		uromodulin-like 1		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	3,4403	8.1+/-20.4	0,3,2200	214.0	177.0	189.0		1366,1150,1150,1366	2.6	0.0	21	dbSNP_134	189	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	21,21,21,21	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	456/1319,384/1375,384/1247,456/1447	43524044	5,13001	2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524044G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1366G>A	21.37:g.43524044G>A	ENSP00000386147:p.Val456Met					UMODL1_ENST00000408989.2_Missense_Mutation_p.V456M|UMODL1_ENST00000400424.1_Missense_Mutation_p.V384M|C21orf128_ENST00000329015.2_Silent_p.H63H|UMODL1_ENST00000408910.2_Missense_Mutation_p.V456M	p.V384M	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			9	1546	+			456			Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1150G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	8.673	0.903349	0.17760	6.81E-4	2.33E-4	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	3.49	2.6	0.31112	SEA (1);	0.565004	0.14422	N	0.320581	T	0.55909	0.1950	M	0.70595	2.14	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.69654	0.92;0.965;0.946	T	0.39761	-0.9598	10	0.54805	T	0.06	-7.6093	4.9263	0.13894	0.1188:0.2194:0.6618:0.0	.	384;456;456	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	M	384;384;456;456	ENSP00000383279:V384M;ENSP00000383276:V384M;ENSP00000386126:V456M;ENSP00000386147:V456M	ENSP00000383276:V384M	V	+	1	0	UMODL1	42397113	0.007000	0.16637	0.005000	0.12908	0.043000	0.13939	0.658000	0.24979	1.033000	0.39918	0.655000	0.94253	GTG		0.592	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			40	82	0	0	0	1	0	40	82				
CHEK1	1111	broad.mit.edu	37	11	125503111	125503111	+	Missense_Mutation	SNP	C	C	T	rs369248914		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125503111C>T	ENST00000534070.1	+	6	733	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Missense_Mutation_p.R160C|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160C|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160C|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160C|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160C|CHEK1_ENST00000427383.2_Missense_Mutation_p.R176C	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTATAATAATCGTGAGCGTTT	0.358								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(478-480)Cgt>Tgt	Other conserved DNA damage response genes	checkpoint kinase 1		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4402		0,0,2201	106.0	105.0	105.0		478,478,478	4.8	1.0	11		105	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	CHEK1	NM_001114121.2,NM_001114122.2,NM_001274.5	180,180,180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	160/477,160/477,160/477	125503111	1,12999	2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125503111C>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.478C>T	11.37:g.125503111C>T	ENSP00000435371:p.Arg160Cys					CHEK1_ENST00000438015.1_Missense_Mutation_p.R160C|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160C|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160C|CHEK1_ENST00000427383.2_Missense_Mutation_p.R176C|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160C|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160C|CHEK1_ENST00000532449.1_3'UTR	p.R160C	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	6	733	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	160			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.478C>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483481	0.84854	0.0	1.16E-4	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.73	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064053	0.64402	D	0.000008	T	0.72890	0.3517	L	0.42581	1.335	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	P;P;P;P	0.61722	0.816;0.893;0.885;0.885	T	0.75368	-0.3342	10	0.66056	D	0.02	-9.9688	13.3854	0.60793	0.2868:0.7132:0.0:0.0	.	160;176;160;160	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	C	160;176;160;160;160;160;160;160;81;160	ENSP00000388648:R160C;ENSP00000391090:R176C;ENSP00000412504:R160C;ENSP00000442317:R160C;ENSP00000431525:R160C;ENSP00000431815:R160C;ENSP00000435371:R160C;ENSP00000432890:R160C;ENSP00000434646:R81C;ENSP00000278916:R160C	ENSP00000278916:R160C	R	+	1	0	CHEK1	125008321	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.481000	0.60250	1.388000	0.46506	0.585000	0.79938	CGT		0.358	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		50	56	0	0	0	1	0	50	56				
OR13C9	286362	broad.mit.edu	37	9	107380071	107380071	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107380071T>G	ENST00000259362.1	-	1	414	c.415A>C	c.(415-417)Aat>Cat	p.N139H		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACATAGGCATTCTTGCTCATG	0.488																																						ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(415-417)Aat>Cat		olfactory receptor, family 13, subfamily C, member 9							137.0	125.0	129.0					9																	107380071		2203	4300	6503	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107380071T>G		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.415A>C	9.37:g.107380071T>G	ENSP00000259362:p.Asn139His						p.N139H	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	414	-			139					Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.415A>C	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	C	1.053	-0.675201	0.03378	.	.	ENSG00000136839	ENST00000259362	T	0.00406	7.55	4.51	-4.77	0.03219	GPCR, rhodopsin-like superfamily (1);	1.033030	0.07716	N	0.942909	T	0.00210	0.0006	N	0.11064	0.09	0.09310	N	1	B	0.20887	0.049	B	0.23018	0.043	T	0.28490	-1.0042	10	0.46703	T	0.11	.	5.5137	0.16894	0.109:0.1193:0.1084:0.6633	.	139	Q8NGT0	O13C9_HUMAN	H	139	ENSP00000259362:N139H	ENSP00000259362:N139H	N	-	1	0	OR13C9	106419892	0.000000	0.05858	0.085000	0.20634	0.021000	0.10359	-0.674000	0.05233	-1.289000	0.02375	-0.754000	0.03487	AAT		0.488	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			37	49	0	0	0	1	0	37	49				
THTPA	79178	broad.mit.edu	37	14	24026141	24026141	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026141G>T	ENST00000288014.6	+	1	911	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	THTPA_ENST00000556015.1_Missense_Mutation_p.D59Y|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.D59Y|THTPA_ENST00000404535.3_Missense_Mutation_p.D59Y|THTPA_ENST00000554970.1_Missense_Mutation_p.D59Y			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	59	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		ACGACGAGAGGATAGTGGATG	0.582																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(175-177)Gat>Tat		thiamine triphosphatase	Thiamine(DB00152)						69.0	56.0	60.0					14																	24026141		2203	4300	6503	SO:0001583	missense	0				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026141G>T	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.175G>T	14.37:g.24026141G>T	ENSP00000288014:p.Asp59Tyr					THTPA_ENST00000404535.3_Missense_Mutation_p.D59Y|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554970.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554789.1_Missense_Mutation_p.D59Y	p.D59Y			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	911	+	all_cancers(95;0.000251)		59					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.175G>T	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040999	0.35989	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.91	1.88	0.25563	CYTH domain (2);CYTH-like domain (1);	0.342940	0.33382	N	0.004974	T	0.31827	0.0809	L	0.34521	1.04	0.37203	D	0.904469	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.12630	-1.0540	10	0.59425	D	0.04	-0.1371	5.4909	0.16774	0.2434:0.0:0.6192:0.1374	.	59;59	G3V4J3;Q9BU02	.;THTPA_HUMAN	Y	59	ENSP00000384580:D59Y;ENSP00000288014:D59Y;ENSP00000452281:D59Y;ENSP00000451835:D59Y;ENSP00000452465:D59Y;ENSP00000450459:D59Y	ENSP00000288014:D59Y	D	+	1	0	THTPA	23095981	0.998000	0.40836	0.826000	0.32828	0.851000	0.48451	1.822000	0.39052	0.064000	0.16427	-0.825000	0.03093	GAT		0.582	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			5	18	1	0	5.9392e-07	1	6.91975e-07	5	18				
SLC25A25	114789	broad.mit.edu	37	9	130868649	130868649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130868649G>T	ENST00000373064.5	+	8	1187	c.924G>T	c.(922-924)atG>atT	p.M308I	SLC25A25_ENST00000373066.5_Missense_Mutation_p.M340I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.M328I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.M354I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.M205I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.M342I|RP11-395P17.11_ENST00000602939.1_RNA	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	308					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGACCCGGATGGCGCTGCGGA	0.657																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(1018-1020)atG>atT		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							43.0	43.0	43.0					9																	130868649		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130868649G>T	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.924G>T	9.37:g.130868649G>T	ENSP00000362155:p.Met308Ile					SLC25A25_ENST00000373068.2_Missense_Mutation_p.M342I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.M328I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.M205I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.M354I|SLC25A25_ENST00000373064.5_Missense_Mutation_p.M308I	p.M340I	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			9	1427	+			308					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.1020G>T	CCDS6890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.179255|3.179255	0.57800|0.57800	.|.	.|.	ENSG00000148339|ENSG00000148339	ENST00000466983|ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.|T;T;T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Mitochondrial carrier domain (2);	.|0.045322	.|0.85682	.|D	.|0.000000	T|T	0.73636|0.73636	0.3612|0.3612	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B;B	.|0.26445	.|0.149;0.08;0.08;0.09	.|B;B;B;B	.|0.32762	.|0.152;0.096;0.096;0.043	T|T	0.72431|0.72431	-0.4296|-0.4296	5|10	.|0.59425	.|D	.|0.04	-40.1191|-40.1191	18.0518|18.0518	0.89351|0.89351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|308;340;328;342	.|Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	.|SCMC2_HUMAN;.;.;.	C|I	46|342;354;328;340;308;205	.|ENSP00000362159:M342I;ENSP00000362160:M354I;ENSP00000410053:M328I;ENSP00000362157:M340I;ENSP00000362155:M308I;ENSP00000401672:M205I	.|ENSP00000362155:M308I	G|M	+|+	1|3	0|0	SLC25A25|SLC25A25	129908470|129908470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.430000|4.430000	0.59907|0.59907	2.501000|2.501000	0.84356|0.84356	0.561000|0.561000	0.74099|0.74099	GGC|ATG		0.657	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		6	44	1	0	8.12818e-05	1	8.99451e-05	6	44				
F10	2159	broad.mit.edu	37	13	113803537	113803537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113803537G>A	ENST00000375559.3	+	8	1211	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	391	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ACAGCTGCAAGCTGTCCAGCA	0.647																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1171-1173)aaG>aaA		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						52.0	55.0	54.0					13																	113803537		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803537G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1173G>A	13.37:g.113803537G>A						F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	p.K391K	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1211	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	391			Peptidase S1.		Q14340	Silent	SNP	ENST00000375559.3	37	c.1173G>A	CCDS9530.1																																																																																				0.647	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			19	24	0	0	0	1	0	19	24				
ANKH	56172	broad.mit.edu	37	5	14713083	14713083	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14713083C>A	ENST00000284268.6	-	11	1596		c.e11-1		ANKH_ENST00000535119.1_Splice_Site	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator						locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGTGCACCCTGCAGATGAG	0.577																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.e11-1		ANKH inorganic pyrophosphate transport regulator							26.0	28.0	27.0					5																	14713083		2202	4300	6502	SO:0001630	splice_region_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14713083C>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1266-1G>T	5.37:g.14713083C>A						ANKH_ENST00000535119.1_Splice_Site		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			11	1596	-								B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Splice_Site	SNP	ENST00000284268.6	37		CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156761	0.38119	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1995	0.89833	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKH	14766083	1.000000	0.71417	0.998000	0.56505	0.059000	0.15707	7.776000	0.85560	2.612000	0.88384	0.655000	0.94253	.		0.577	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027	Intron	7	6	1	0	1	1	1	7	6				
FBN2	2201	broad.mit.edu	37	5	127744372	127744372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127744372C>T	ENST00000508053.1	-	14	2047	c.1073G>A	c.(1072-1074)tGc>tAc	p.C358Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C358Y|FBN2_ENST00000508989.1_Missense_Mutation_p.C325Y			P35556	FBN2_HUMAN	fibrillin 2	358	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTACCGATGCATCGAGAGCC	0.418																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1072-1074)tGc>tAc		fibrillin 2							120.0	104.0	110.0					5																	127744372		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127744372C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1073G>A	5.37:g.127744372C>T	ENSP00000424571:p.Cys358Tyr					FBN2_ENST00000508989.1_Missense_Mutation_p.C325Y|FBN2_ENST00000262464.4_Missense_Mutation_p.C358Y	p.C358Y			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	14	2047	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	358			EGF-like 5; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1073G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395124	0.62066	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99914	-5.91;-5.91;-7.98	4.89	4.89	0.63831	Matrix fibril-associated (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99951	0.9979	H	0.98407	4.225	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.995	D	0.96080	0.9053	10	0.87932	D	0	.	18.5162	0.90936	0.0:1.0:0.0:0.0	.	325;358	D6RJI3;P35556	.;FBN2_HUMAN	Y	358;358;325	ENSP00000262464:C358Y;ENSP00000424571:C358Y;ENSP00000425596:C325Y	ENSP00000262464:C358Y	C	-	2	0	FBN2	127772271	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	5.301000	0.65727	2.647000	0.89833	0.555000	0.69702	TGC		0.418	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		24	32	0	0	0	1	0	24	32				
HTR5A	3361	broad.mit.edu	37	7	154863210	154863210	+	Missense_Mutation	SNP	G	G	A	rs373746725		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863210G>A	ENST00000287907.2	+	1	1177	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	201					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GCCTTCCTACGCCGTGTTCTC	0.612																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(601-603)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled		G	THR/ALA	0,4406		0,0,2203	86.0	72.0	77.0		601	-3.3	1.0	7		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	HTR5A	NM_024012.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	201/358	154863210	1,13005	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863210G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.601G>A	7.37:g.154863210G>A	ENSP00000287907:p.Ala201Thr					AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	p.A201T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1177	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	201					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.601G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	5.462	0.270269	0.10349	0.0	1.16E-4	ENSG00000157219	ENST00000287907	T	0.36157	1.27	4.77	-3.28	0.05033	GPCR, rhodopsin-like superfamily (1);	0.197534	0.53938	N	0.000055	T	0.13286	0.0322	N	0.05158	-0.105	0.28281	N	0.923972	B	0.09022	0.002	B	0.08055	0.003	T	0.31364	-0.9946	10	0.10377	T	0.69	.	11.0225	0.47726	0.5626:0.0:0.4374:0.0	.	201	P47898	5HT5A_HUMAN	T	201	ENSP00000287907:A201T	ENSP00000287907:A201T	A	+	1	0	HTR5A	154494143	1.000000	0.71417	0.951000	0.38953	0.921000	0.55340	1.841000	0.39240	-0.842000	0.04195	-0.302000	0.09304	GCC		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		9	26	0	0	0	1	0	9	26				
DXO	1797	broad.mit.edu	37	6	31938696	31938696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938696C>T	ENST00000375349.3	-	3	996	c.585G>A	c.(583-585)atG>atA	p.M195I	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000375356.3_Missense_Mutation_p.M195I|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Missense_Mutation_p.M195I|STK19_ENST00000375331.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	195					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CACCTGCACACATGTACTGCT	0.587																																						ENST00000375349.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(583-585)atG>atA									80.0	89.0	86.0					6																	31938696		1510	2708	4218	SO:0001583	missense	0						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938696C>T	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.585G>A	6.37:g.31938696C>T	ENSP00000364498:p.Met195Ile					DOM3Z_ENST00000337523.5_Missense_Mutation_p.M195I|DOM3Z_ENST00000375356.3_Missense_Mutation_p.M195I|DOM3Z_ENST00000478221.1_5'UTR	p.M195I			O77932	DOM3Z_HUMAN			3	996	-			195					A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.585G>A	CCDS4732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.91|12.91	2.080269|2.080269	0.36662|0.36662	.|.	.|.	ENSG00000204348|ENSG00000204348	ENST00000495340|ENST00000337523;ENST00000375349;ENST00000375356	.|T;T;T	.|0.17213	.|2.29;2.29;2.29	5.23|5.23	4.31|4.31	0.51392|0.51392	.|.	.|0.140433	.|0.64402	.|D	.|0.000006	T|T	0.04543|0.04543	0.0124|0.0124	L|L	0.28556|0.28556	0.865|0.865	0.35060|0.35060	D|D	0.761504|0.761504	.|P;P	.|0.34562	.|0.455;0.457	.|B;B	.|0.32624	.|0.149;0.141	T|T	0.31251|0.31251	-0.9950|-0.9950	5|10	.|0.17832	.|T	.|0.49	-16.2162|-16.2162	9.5087|9.5087	0.39062|0.39062	0.1588:0.6873:0.1539:0.0|0.1588:0.6873:0.1539:0.0	.|.	.|195;195	.|F8WC68;O77932	.|.;DOM3Z_HUMAN	Y|I	2|195	.|ENSP00000337759:M195I;ENSP00000364498:M195I;ENSP00000364505:M195I	.|ENSP00000337759:M195I	C|M	-|-	2|3	0|0	DOM3Z|DOM3Z	32046675|32046675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	0.574000|0.574000	0.23714|0.23714	2.434000|2.434000	0.82447|0.82447	0.561000|0.561000	0.74099|0.74099	TGT|ATG		0.587	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			8	87	0	0	0	1	0	8	87				
SLC13A2	9058	broad.mit.edu	37	17	26818459	26818459	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26818459T>C	ENST00000314669.5	+	5	999	c.579T>C	c.(577-579)aaT>aaC	p.N193N	SLC13A2_ENST00000545060.1_Silent_p.N150N|SLC13A2_ENST00000444914.3_Silent_p.N242N|SLC13A2_ENST00000537681.1_Silent_p.N122N	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	193					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCCAGATAATGGGCAGGCCC	0.642																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(724-726)aaT>aaC		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						44.0	45.0	45.0					17																	26818459		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26818459T>C	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.579T>C	17.37:g.26818459T>C						SLC13A2_ENST00000314669.5_Silent_p.N193N|SLC13A2_ENST00000545060.1_Silent_p.N150N|SLC13A2_ENST00000537681.1_Silent_p.N122N	p.N242N	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	1146	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		193					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.726T>C	CCDS11231.1																																																																																				0.642	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		18	26	0	0	0	1	0	18	26				
OR4F6	390648	broad.mit.edu	37	15	102345968	102345968	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102345968G>A	ENST00000328882.4	+	1	67	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTGTTCCTGGGACTCTCTGA	0.483																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(46-48)Gga>Aga		olfactory receptor, family 4, subfamily F, member 6							156.0	140.0	145.0					15																	102345968		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102345968G>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.46G>A	15.37:g.102345968G>A	ENSP00000327525:p.Gly16Arg						p.G16R	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	67	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		16					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.46G>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.286393	0.23478	.	.	ENSG00000184140	ENST00000328882	T	0.00659	5.94	4.68	3.77	0.43336	.	0.144112	0.32106	N	0.006571	T	0.03390	0.0098	H	0.95328	3.655	0.31688	N	0.64228	P	0.38863	0.65	B	0.43331	0.416	T	0.00123	-1.2025	10	0.87932	D	0	.	11.1174	0.48268	0.0918:0.0:0.9082:0.0	.	16	Q8NGB9	OR4F6_HUMAN	R	16	ENSP00000327525:G16R	ENSP00000327525:G16R	G	+	1	0	OR4F6	100163491	0.963000	0.33076	0.991000	0.47740	0.189000	0.23516	3.167000	0.50793	1.334000	0.45468	-0.216000	0.12614	GGA		0.483	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			28	69	0	0	0	1	0	28	69				
FTCD	10841	broad.mit.edu	37	21	47570386	47570386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47570386G>A	ENST00000291670.5	-	6	733	c.690C>T	c.(688-690)aaC>aaT	p.N230N	FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Silent_p.N230N|FTCD_ENST00000397748.1_Silent_p.N230N|FTCD_ENST00000359679.2_Silent_p.N230N|FTCD_ENST00000397743.1_Silent_p.N230N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Silent_p.N230N	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	230	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CCTGAGCCAGGTTCTTCTCAT	0.577																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(688-690)aaC>aaT		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						133.0	120.0	125.0					21																	47570386		2202	4300	6502	SO:0001819	synonymous_variant	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47570386G>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.690C>T	21.37:g.47570386G>A						FTCD_ENST00000397743.1_Silent_p.N230N|FTCD_ENST00000359679.2_Silent_p.N230N|FTCD_ENST00000355384.2_Silent_p.N230N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Silent_p.N230N|FTCD_ENST00000397746.3_Silent_p.N230N	p.N230N			O95954	FTCD_HUMAN		Colorectal(79;0.235)	6	733	-	Breast(49;0.214)		230			Formiminotransferase C-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	37	c.690C>T	CCDS13731.1																																																																																				0.577	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		48	51	0	0	0	1	0	48	51				
HECTD4	283450	broad.mit.edu	37	12	112667652	112667652	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112667652T>C	ENST00000430131.2	-	40	6248	c.5103A>G	c.(5101-5103)caA>caG	p.Q1701Q	HECTD4_ENST00000377560.5_Silent_p.Q1951Q|HECTD4_ENST00000550722.1_Silent_p.Q1977Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1701					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATTTCCCCAATTGTGGAATGT	0.468																																						ENST00000550722.1																			0											c.(5929-5931)caA>caG		HECT domain containing E3 ubiquitin protein ligase 4							77.0	72.0	74.0					12																	112667652		1950	4134	6084	SO:0001819	synonymous_variant	283450							g.chr12:112667652T>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5103A>G	12.37:g.112667652T>C						HECTD4_ENST00000430131.2_Silent_p.Q1701Q|HECTD4_ENST00000377560.5_Silent_p.Q1951Q	p.Q1977Q	NM_001109662.3	NP_001103132.3					41	6326	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5931A>G																																																																																					0.468	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	33	0	0	0	1	0	4	33				
XRN1	54464	broad.mit.edu	37	3	142037526	142037526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142037526C>T	ENST00000264951.4	-	39	4643	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D	XRN1_ENST00000392981.2_Missense_Mutation_p.G1510D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAATTCATGCCTAAGGAGCC	0.393																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(4525-4527)gGc>gAc		5'-3' exoribonuclease 1							63.0	68.0	66.0					3																	142037526		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142037526C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4526G>A	3.37:g.142037526C>T	ENSP00000264951:p.Gly1509Asp					XRN1_ENST00000392981.2_Missense_Mutation_p.G1510D	p.G1509D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			39	4643	-			1509					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.4526G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093615	0.56075	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.39406	1.08;1.27	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68621	0.959;0.911	T	0.35450	-0.9788	10	0.16420	T	0.52	-13.776	15.7773	0.78232	0.0:1.0:0.0:0.0	.	1510;1509	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	D	1509;1510	ENSP00000264951:G1509D;ENSP00000376707:G1510D	ENSP00000264951:G1509D	G	-	2	0	XRN1	143520216	1.000000	0.71417	0.988000	0.46212	0.590000	0.36582	4.198000	0.58419	2.111000	0.64477	0.563000	0.77884	GGC		0.393	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		7	14	0	0	0	1	0	7	14				
MCPH1	79648	broad.mit.edu	37	8	6302093	6302093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6302093G>A	ENST00000344683.5	+	8	926	c.850G>A	c.(850-852)Gat>Aat	p.D284N	MCPH1_ENST00000522905.1_Missense_Mutation_p.D236N|MCPH1_ENST00000519480.1_Missense_Mutation_p.D284N	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	284					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CACTCACCTCGATAAATCAAG	0.338																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(850-852)Gat>Aat		microcephalin 1							63.0	59.0	60.0					8																	6302093		1836	4085	5921	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302093G>A	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.850G>A	8.37:g.6302093G>A	ENSP00000342924:p.Asp284Asn					MCPH1_ENST00000522905.1_Missense_Mutation_p.D236N|MCPH1_ENST00000519480.1_Missense_Mutation_p.D284N	p.D284N	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	926	+		Hepatocellular(245;0.0663)	284					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.850G>A	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	3.791	-0.043643	0.07452	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.09723	2.95;2.95;2.95	5.26	-7.2	0.01495	.	1.508200	0.03067	N	0.156667	T	0.06962	0.0177	L	0.38175	1.15	0.09310	N	1	B;B;B	0.18610	0.029;0.011;0.013	B;B;B	0.14578	0.011;0.009;0.011	T	0.32640	-0.9899	10	0.13108	T	0.6	-0.3235	5.4127	0.16356	0.2711:0.0:0.3948:0.3341	.	236;284;284	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	N	284;284;236	ENSP00000342924:D284N;ENSP00000430962:D284N;ENSP00000430768:D236N	ENSP00000342924:D284N	D	+	1	0	MCPH1	6289501	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.513000	0.06305	-1.295000	0.02357	-0.302000	0.09304	GAT		0.338	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	52	0	0	0	1	0	8	52				
SKIV2L2	23517	broad.mit.edu	37	5	54640973	54640973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54640973G>A	ENST00000230640.5	+	10	1311	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.A252T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	353					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCTTCGAGATGCAGGTGATTT	0.353																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1057-1059)Gca>Aca		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							58.0	62.0	61.0					5																	54640973		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54640973G>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1057G>A	5.37:g.54640973G>A	ENSP00000230640:p.Ala353Thr					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.A252T	p.A353T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			10	1311	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	353					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1057G>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905262	0.72868	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.41400	1.0;1.0	5.38	5.38	0.77491	.	0.159753	0.56097	D	0.000029	T	0.36386	0.0965	L	0.33624	1.015	0.80722	D	1	B;B	0.14805	0.011;0.001	B;B	0.15870	0.014;0.006	T	0.07290	-1.0780	10	0.28530	T	0.3	-1.0372	19.4792	0.95002	0.0:0.0:1.0:0.0	.	252;353	F5H7E2;P42285	.;SK2L2_HUMAN	T	353;252	ENSP00000230640:A353T;ENSP00000442583:A252T	ENSP00000230640:A353T	A	+	1	0	SKIV2L2	54676730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.392000	0.79840	2.681000	0.91329	0.585000	0.79938	GCA		0.353	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			15	22	0	0	0	1	0	15	22				
TTC38	55020	broad.mit.edu	37	22	46684453	46684453	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46684453G>A	ENST00000381031.3	+	11	1126	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	TTC38_ENST00000445282.2_Silent_p.Q292Q	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	350						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGACCACACAGGAGCTGCTGA	0.662																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(1048-1050)caG>caA		tetratricopeptide repeat domain 38							92.0	94.0	93.0					22																	46684453		2101	4220	6321	SO:0001819	synonymous_variant	55020						binding	g.chr22:46684453G>A		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1050G>A	22.37:g.46684453G>A						TTC38_ENST00000445282.2_Silent_p.Q292Q	p.Q350Q	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			11	1126	+			350					Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.1050G>A	CCDS43030.1																																																																																				0.662	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		26	43	0	0	0	1	0	26	43				
SLX4	84464	broad.mit.edu	37	16	3632419	3632419	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3632419G>T	ENST00000294008.3	-	15	6069	c.5429C>A	c.(5428-5430)aCt>aAt	p.T1810N	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1810	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGGCGGCAGTGGTGAAGGT	0.667								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(5428-5430)aCt>aAt	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							87.0	86.0	86.0					16																	3632419		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3632419G>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5429C>A	16.37:g.3632419G>T	ENSP00000294008:p.Thr1810Asn					RP11-461A8.1_ENST00000573982.1_lincRNA	p.T1810N	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			15	6069	-			1810			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.5429C>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984690	0.53934	.	.	ENSG00000188827	ENST00000294008	T	0.01379	4.96	5.67	5.67	0.87782	.	0.117156	0.56097	D	0.000028	T	0.06781	0.0173	L	0.60455	1.87	0.39784	D	0.972334	D	0.76494	0.999	D	0.83275	0.996	T	0.04103	-1.0977	10	0.72032	D	0.01	.	14.0022	0.64439	0.0743:0.0:0.9257:0.0	.	1810	Q8IY92	SLX4_HUMAN	N	1810	ENSP00000294008:T1810N	ENSP00000294008:T1810N	T	-	2	0	SLX4	3572420	1.000000	0.71417	0.995000	0.50966	0.179000	0.23085	6.604000	0.74150	2.697000	0.92050	0.655000	0.94253	ACT		0.667	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		10	133	1	0	4.68919e-08	1	5.58064e-08	10	133				
MCM4	4173	broad.mit.edu	37	8	48885589	48885589	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48885589C>T	ENST00000262105.2	+	13	2310	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	MCM4_ENST00000523944.1_Missense_Mutation_p.R701W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	701					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATCATGCCGCGGCTAAGTGA	0.552																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(2101-2103)Cgg>Tgg		minichromosome maintenance complex component 4							64.0	48.0	54.0					8																	48885589		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48885589C>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2101C>T	8.37:g.48885589C>T	ENSP00000262105:p.Arg701Trp					MCM4_ENST00000523944.1_Missense_Mutation_p.R701W	p.R701W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			13	2310	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	701					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2101C>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007264	0.35415	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.07327	3.2;3.2	5.62	1.31	0.21738	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	M	0.88906	2.99	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.49301	0.606;0.606	T	0.06127	-1.0844	10	0.66056	D	0.02	-21.1824	9.4744	0.38862	0.5049:0.42:0.0:0.0751	.	701;701	B3KMX0;P33991	.;MCM4_HUMAN	W	701;701;688;661	ENSP00000430194:R701W;ENSP00000262105:R701W	ENSP00000262105:R701W	R	+	1	2	MCM4	49048142	0.856000	0.29760	0.089000	0.20774	0.022000	0.10575	1.757000	0.38400	0.310000	0.22990	-0.311000	0.09066	CGG		0.552	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		12	13	0	0	0	1	0	12	13				
FLG2	388698	broad.mit.edu	37	1	152327756	152327756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152327756G>A	ENST00000388718.5	-	3	2578	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	836	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGCTGTCCAAAG	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2506-2508)Cat>Tat		filaggrin family member 2							327.0	314.0	318.0					1																	152327756		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327756G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2506C>T	1.37:g.152327756G>A	ENSP00000373370:p.His836Tyr					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H836Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2578	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		836			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2506C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.166801	0.01660	.	.	ENSG00000143520	ENST00000388718	T	0.21361	2.01	3.99	2.99	0.34606	.	.	.	.	.	T	0.17577	0.0422	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.63957	0.92	T	0.11616	-1.0580	9	0.02654	T	1	.	10.7852	0.46401	0.0:0.0:0.8104:0.1896	.	836	Q5D862	FILA2_HUMAN	Y	836	ENSP00000373370:H836Y	ENSP00000373370:H836Y	H	-	1	0	FLG2	150594380	0.981000	0.34729	0.047000	0.18901	0.004000	0.04260	0.337000	0.19841	2.251000	0.74343	0.485000	0.47835	CAT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		142	184	0	0	0	1	0	142	184				
CNIH4	29097	broad.mit.edu	37	1	224553644	224553644	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224553644T>C	ENST00000465271.1	+	3	277	c.202T>C	c.(202-204)Tgg>Cgg	p.W68R	CNIH4_ENST00000366856.3_Missense_Mutation_p.W68R|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Missense_Mutation_p.W68R|CNIH4_ENST00000366857.5_Missense_Mutation_p.W68R	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	68					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GTCATTGCACTGGTTCATCTT	0.368																																						ENST00000465271.1																			0				kidney(3)|lung(2)|ovary(2)	7						c.(202-204)Tgg>Cgg		cornichon family AMPA receptor auxiliary protein 4							486.0	378.0	414.0					1																	224553644		2203	4300	6503	SO:0001583	missense	29097				intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding	g.chr1:224553644T>C		CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"""cornichon homolog 4 (Drosophila)"""			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.202T>C	1.37:g.224553644T>C	ENSP00000420443:p.Trp68Arg					CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366856.3_Missense_Mutation_p.W68R|CNIH4_ENST00000366858.3_Missense_Mutation_p.W68R|CNIH4_ENST00000366857.5_Missense_Mutation_p.W68R	p.W68R	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN		GBM - Glioblastoma multiforme(131;0.00341)	3	277	+			68					A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP	ENST00000465271.1	37	c.202T>C	CCDS1543.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546362	0.86022	.	.	ENSG00000143771	ENST00000465271;ENST00000366858;ENST00000366857;ENST00000366856	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86401	0.1742	10	0.87932	D	0	-15.4274	15.4341	0.75129	0.0:0.0:0.0:1.0	.	68	Q9P003	CNIH4_HUMAN	R	68	ENSP00000420443:W68R;ENSP00000355823:W68R;ENSP00000355822:W68R;ENSP00000355821:W68R	ENSP00000355821:W68R	W	+	1	0	CNIH4	222620267	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.827000	0.86722	2.107000	0.64212	0.379000	0.24179	TGG		0.368	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091754.1	NM_014184		5	149	0	0	0	1	0	5	149				
VWA7	80737	broad.mit.edu	37	6	31734049	31734049	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31734049C>T	ENST00000375688.4	-	15	2497	c.2297G>A	c.(2296-2298)aGc>aAc	p.S766N	VWA7_ENST00000375686.3_Missense_Mutation_p.S766N|VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	766						extracellular region (GO:0005576)											GAGGGAGAAGCTGGGGTTGAC	0.612																																						ENST00000375686.3																			0											c.(2296-2298)aGc>aAc		von Willebrand factor A domain containing 7							42.0	39.0	40.0					6																	31734049		1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31734049C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2297G>A	6.37:g.31734049C>T	ENSP00000364840:p.Ser766Asn					VWA7_ENST00000375688.4_Missense_Mutation_p.S766N	p.S766N	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			15	2534	-			766					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.2297G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479732	0.26511	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.14144	2.75;2.53	4.57	2.7	0.31948	.	0.408692	0.24513	N	0.037873	T	0.02193	0.0068	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33727	-0.9857	10	0.13853	T	0.58	-6.2473	4.8583	0.13570	0.213:0.6785:0.0:0.1085	.	766	Q9Y334	G7C_HUMAN	N	766	ENSP00000364840:S766N;ENSP00000364838:S766N	ENSP00000364838:S766N	S	-	2	0	C6orf27	31842028	0.806000	0.28996	0.992000	0.48379	0.496000	0.33645	-0.285000	0.08410	1.209000	0.43321	0.563000	0.77884	AGC		0.612	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		7	12	0	0	0	1	0	7	12				
OR52E2	119678	broad.mit.edu	37	11	5080122	5080122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080122C>T	ENST00000321522.2	-	1	735	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATTACACACACATGTGAACCA	0.463																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(736-738)Gtg>Atg		olfactory receptor, family 52, subfamily E, member 2							81.0	79.0	79.0					11																	5080122		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080122C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.736G>A	11.37:g.5080122C>T	ENSP00000322088:p.Val246Met						p.V246M	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	735	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	246						Missense_Mutation	SNP	ENST00000321522.2	37	c.736G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684962	0.29872	.	.	ENSG00000176787	ENST00000321522	T	0.40225	1.04	3.76	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000230	T	0.55146	0.1902	M	0.61703	1.905	0.25043	N	0.991182	D	0.64830	0.994	D	0.68943	0.961	T	0.40961	-0.9535	10	0.62326	D	0.03	.	8.2777	0.31881	0.0:0.8006:0.0:0.1994	.	246	Q8NGJ4	O52E2_HUMAN	M	246	ENSP00000322088:V246M	ENSP00000322088:V246M	V	-	1	0	OR52E2	5036698	0.000000	0.05858	0.887000	0.34795	0.316000	0.28119	-1.753000	0.01818	1.191000	0.43056	0.644000	0.83932	GTG		0.463	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		5	35	0	0	0	1	0	5	35				
COBL	23242	broad.mit.edu	37	7	51095935	51095935	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095935T>C	ENST00000265136.7	-	10	3023	c.2858A>G	c.(2857-2859)gAg>gGg	p.E953G	COBL_ENST00000395542.2_Missense_Mutation_p.E1035G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	953					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCAATGACCTCCCCCCTAGG	0.567																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3103-3105)gAg>gGg		cordon-bleu WH2 repeat protein							70.0	66.0	67.0					7																	51095935		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095935T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2858A>G	7.37:g.51095935T>C	ENSP00000265136:p.Glu953Gly					COBL_ENST00000265136.7_Missense_Mutation_p.E953G	p.E1035G			O75128	COBL_HUMAN			12	3288	-	Glioma(55;0.08)		953					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3104A>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396763	0.25205	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.13538	2.58;2.58;2.58;2.59	5.21	1.32	0.21799	.	1.155410	0.06569	N	0.748236	T	0.09024	0.0223	N	0.17082	0.46	0.09310	N	1	B;B;B;B;P	0.51933	0.01;0.012;0.006;0.028;0.949	B;B;B;B;B	0.43301	0.009;0.006;0.003;0.022;0.415	T	0.18493	-1.0335	10	0.62326	D	0.03	.	2.6568	0.05015	0.1477:0.0807:0.1544:0.6172	.	953;1010;953;1035;495	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	G	953;845;838;1035	ENSP00000265136:E953G;ENSP00000401204:E845G;ENSP00000413498:E838G;ENSP00000378912:E1035G	ENSP00000265136:E953G	E	-	2	0	COBL	51063429	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.132000	0.15891	-0.018000	0.14079	0.460000	0.39030	GAG		0.567	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		11	50	0	0	0	1	0	11	50				
RFC4	5984	broad.mit.edu	37	3	186509558	186509558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186509558C>A	ENST00000392481.2	-	8	1038	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C	RFC4_ENST00000433496.1_Missense_Mutation_p.G253C|RFC4_ENST00000296273.2_Missense_Mutation_p.G253C	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	253					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCCTTTCCACCTGTTAATCGA	0.378																																						ENST00000392481.2																			0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(757-759)Ggt>Tgt		replication factor C (activator 1) 4, 37kDa							130.0	128.0	129.0					3																	186509558		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186509558C>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.757G>T	3.37:g.186509558C>A	ENSP00000376272:p.Gly253Cys					RFC4_ENST00000296273.2_Missense_Mutation_p.G253C|RFC4_ENST00000433496.1_Missense_Mutation_p.G253C	p.G253C	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	8	1038	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		253					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.757G>T	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528135	0.44969	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000417876	T;T;T;T	0.50277	0.75;0.75;0.75;0.8	5.73	5.73	0.89815	.	0.218454	0.53938	D	0.000058	T	0.61961	0.2389	M	0.92833	3.35	0.45502	D	0.998465	B;B	0.21753	0.06;0.002	B;B	0.21546	0.035;0.016	T	0.65861	-0.6065	10	0.87932	D	0	.	17.3962	0.87446	0.0:1.0:0.0:0.0	.	253;253	B4DM41;P35249	.;RFC4_HUMAN	C	253;253;253;28	ENSP00000399769:G253C;ENSP00000376272:G253C;ENSP00000296273:G253C;ENSP00000401429:G28C	ENSP00000296273:G253C	G	-	1	0	RFC4	187992252	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.502000	0.53332	2.693000	0.91896	0.650000	0.86243	GGT		0.378	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		25	76	1	0	3.01185e-09	1	3.6461e-09	25	76				
INHBE	83729	broad.mit.edu	37	12	57849882	57849882	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849882A>G	ENST00000266646.2	+	2	520	c.304A>G	c.(304-306)Act>Gct	p.T102A	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	102					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGCAGACTCCACTTCAGCCTA	0.582											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	ENST00000266646.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(304-306)Act>Gct		inhibin, beta E							209.0	211.0	210.0					12																	57849882		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849882A>G		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.304A>G	12.37:g.57849882A>G	ENSP00000266646:p.Thr102Ala		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026	INHBE_ENST00000551553.1_3'UTR	p.T102A	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN			2	520	+			102						Missense_Mutation	SNP	ENST00000266646.2	37	c.304A>G	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.829448	0.00584	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.81579	-1.51;-0.03	4.25	-4.99	0.03010	Transforming growth factor-beta, N-terminal (1);	0.625745	0.16133	N	0.228118	T	0.65923	0.2738	M	0.65975	2.015	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55541	-0.8125	10	0.09084	T	0.74	-5.4554	2.44	0.04492	0.2646:0.154:0.4306:0.1507	.	102	P58166	INHBE_HUMAN	A	47;102	ENSP00000450212:T47A;ENSP00000266646:T102A	ENSP00000266646:T102A	T	+	1	0	INHBE	56136149	0.003000	0.15002	0.000000	0.03702	0.053000	0.15095	0.548000	0.23314	-1.077000	0.03121	-0.691000	0.03719	ACT		0.582	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		98	160	0	0	0	1	0	98	160				
RBL1	5933	broad.mit.edu	37	20	35672549	35672549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672549G>A	ENST00000373664.3	-	13	1776	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	RBL1_ENST00000344359.3_Silent_p.H570H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	570	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTGCAGAATCGTGACTCCATG	0.458																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1708-1710)caC>caT		retinoblastoma-like 1 (p107)							110.0	103.0	106.0					20																	35672549		2203	4300	6503	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35672549G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1710C>T	20.37:g.35672549G>A						RBL1_ENST00000344359.3_Silent_p.H570H	p.H570H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			13	1776	-		Myeloproliferative disorder(115;0.00878)	570			Domain A.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.1710C>T	CCDS13289.1																																																																																				0.458	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		25	30	0	0	0	1	0	25	30				
STAT3	6774	broad.mit.edu	37	17	40500461	40500461	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40500461C>A	ENST00000264657.5	-	2	386	c.74G>T	c.(73-75)aGc>aTc	p.S25I	STAT3_ENST00000389272.3_Intron|STAT3_ENST00000588969.1_Missense_Mutation_p.S25I|STAT3_ENST00000585517.1_Missense_Mutation_p.S25I|STAT3_ENST00000404395.3_Missense_Mutation_p.S25I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	25					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S25N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CATTGGGAAGCTGTCACTGTA	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			1	Substitution - Missense(1)	p.S25N(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(73-75)aGc>aTc		signal transducer and activator of transcription 3 (acute-phase response factor)							98.0	92.0	94.0					17																	40500461		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40500461C>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.74G>T	17.37:g.40500461C>A	ENSP00000264657:p.Ser25Ile					STAT3_ENST00000404395.3_Missense_Mutation_p.S25I|STAT3_ENST00000389272.3_Intron|STAT3_ENST00000585517.1_Missense_Mutation_p.S25I|STAT3_ENST00000588969.1_Missense_Mutation_p.S25I	p.S25I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	2	386	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	25					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.74G>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741544	0.89573	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.54675	0.56;0.56	5.81	5.81	0.92471	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	L	0.32530	0.975	0.58432	D	0.999996	D;D;D	0.67145	0.994;0.996;0.996	D;D;D	0.77557	0.983;0.99;0.99	T	0.65755	-0.6091	10	0.59425	D	0.04	-16.0869	20.0621	0.97678	0.0:1.0:0.0:0.0	.	25;25;25	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	I	25	ENSP00000264657:S25I;ENSP00000384943:S25I	ENSP00000264657:S25I	S	-	2	0	STAT3	37753987	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.922000	0.70036	2.750000	0.94351	0.655000	0.94253	AGC		0.498	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		6	77	1	0	0.0215528	1	0.0221649	6	77				
CNOT8	9337	broad.mit.edu	37	5	154250340	154250340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250340G>A	ENST00000517876.1	+	5	907	c.431G>A	c.(430-432)gGa>gAa	p.G144E	CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.G144E|CNOT8_ENST00000285896.6_Missense_Mutation_p.G144E|CNOT8_ENST00000520671.1_Missense_Mutation_p.G38E|CNOT8_ENST00000523698.1_Missense_Mutation_p.G38E|CNOT8_ENST00000521450.1_Missense_Mutation_p.G38E|CNOT8_ENST00000521583.1_Missense_Mutation_p.G38E			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	144					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGACATCAGGAGTGGTTCTC	0.443																																					NSCLC(140;1804 1895 27149 29895 35312)	ENST00000517876.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(430-432)gGa>gAa		CCR4-NOT transcription complex, subunit 8							230.0	204.0	213.0					5																	154250340		2203	4300	6503	SO:0001583	missense	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250340G>A	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.431G>A	5.37:g.154250340G>A	ENSP00000430493:p.Gly144Glu					CNOT8_ENST00000520671.1_Missense_Mutation_p.G38E|CNOT8_ENST00000403027.2_Missense_Mutation_p.G144E|CNOT8_ENST00000521450.1_Missense_Mutation_p.G38E|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.G144E|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.G38E|CNOT8_ENST00000523698.1_Missense_Mutation_p.G38E	p.G144E			Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	907	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	144					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	ENST00000517876.1	37	c.431G>A	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080442	0.94050	.	.	ENSG00000155508	ENST00000523698;ENST00000517876;ENST00000519903;ENST00000521450;ENST00000403027;ENST00000285896;ENST00000542339;ENST00000520671;ENST00000521583	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;2.0;0.78;0.78;0.78;0.78;0.78	5.43	5.43	0.79202	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89320	0.3639	10	0.87932	D	0	-13.7005	19.245	0.93898	0.0:0.0:1.0:0.0	.	144	Q9UFF9	CNOT8_HUMAN	E	38;144;38;38;144;144;121;38;38	ENSP00000428565:G38E;ENSP00000430493:G144E;ENSP00000428359:G38E;ENSP00000431034:G38E;ENSP00000384747:G144E;ENSP00000285896:G144E;ENSP00000428305:G38E;ENSP00000429882:G38E	ENSP00000285896:G144E	G	+	2	0	CNOT8	154230533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.230000	0.95299	2.543000	0.85770	0.555000	0.69702	GGA		0.443	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		55	92	0	0	0	1	0	55	92				
STAM2	10254	broad.mit.edu	37	2	152977162	152977162	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152977162C>A	ENST00000263904.4	-	14	1853	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	502					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCGGAAAGCCTGCCAGTTGA	0.448																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(1504-1506)Ggc>Tgc		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							144.0	119.0	127.0					2																	152977162		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152977162C>A	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1504G>T	2.37:g.152977162C>A	ENSP00000263904:p.Gly502Cys						p.G502C	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	14	1853	-			502					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.1504G>T	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	9.409	1.080110	0.20309	.	.	ENSG00000115145	ENST00000263904	T	0.18338	2.22	6.17	3.32	0.38043	.	0.579746	0.19507	N	0.112584	T	0.11965	0.0291	L	0.32530	0.975	0.40966	D	0.984664	B	0.02656	0.0	B	0.06405	0.002	T	0.10451	-1.0629	10	0.38643	T	0.18	-1.8739	6.4198	0.21738	0.1269:0.6563:0.0:0.2168	.	502	O75886	STAM2_HUMAN	C	502	ENSP00000263904:G502C	ENSP00000263904:G502C	G	-	1	0	STAM2	152685408	0.310000	0.24527	0.972000	0.41901	0.227000	0.25037	0.633000	0.24598	0.426000	0.26116	-0.345000	0.07892	GGC		0.448	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		34	51	1	0	1.90571e-15	1	2.44502e-15	34	51				
MUC17	140453	broad.mit.edu	37	7	100678180	100678180	+	Silent	SNP	G	G	A	rs138884548		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100678180G>A	ENST00000306151.4	+	3	3547	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1161	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAACCACTCCGTTAGCAAGTA	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3481-3483)ccG>ccA		mucin 17, cell surface associated							382.0	329.0	347.0					7																	100678180		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678180G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3483G>A	7.37:g.100678180G>A							p.P1161P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3547	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1161			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3483G>A	CCDS34711.1																																																																																				0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		239	175	0	0	0	1	0	239	175				
TJP2	9414	broad.mit.edu	37	9	71869245	71869245	+	Silent	SNP	C	C	T	rs147675640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71869245C>T	ENST00000377245.4	+	23	3736	c.3528C>T	c.(3526-3528)cgC>cgT	p.R1176R	TJP2_ENST00000453658.2_Silent_p.R1006R|TJP2_ENST00000535702.1_Silent_p.R1143R|TJP2_ENST00000348208.4_Silent_p.R1029R|TJP2_ENST00000539225.1_Silent_p.R1207R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACTCCAAGCGCGGTTACTATG	0.552																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(3526-3528)cgC>cgT		tight junction protein 2		C	,,,,	0,4406		0,0,2203	90.0	85.0	87.0		3018,3429,3621,3528,3087	-10.4	0.0	9	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_004817.3,NM_201629.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	1006/1021,1143/1158,1207/1222,1176/1191,1029/1044	71869245	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71869245C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3528C>T	9.37:g.71869245C>T						TJP2_ENST00000453658.2_Silent_p.R1006R|TJP2_ENST00000539225.1_Silent_p.R1207R|TJP2_ENST00000535702.1_Silent_p.R1143R|TJP2_ENST00000348208.4_Silent_p.R1029R	p.R1176R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			23	3736	+			1176					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.3528C>T	CCDS6627.1																																																																																				0.552	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		6	71	0	0	0	1	0	6	71				
CDCP1	64866	broad.mit.edu	37	3	45152200	45152200	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45152200G>A	ENST00000296129.1	-	4	923	c.789C>T	c.(787-789)agC>agT	p.S263S	CDCP1_ENST00000490471.1_5'Flank|CDCP1_ENST00000425231.2_Silent_p.S263S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	263						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGAAGGAGACGCTGGCCCGCA	0.572																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(787-789)agC>agT		CUB domain containing protein 1							117.0	112.0	114.0					3																	45152200		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45152200G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.789C>T	3.37:g.45152200G>A						CDCP1_ENST00000425231.2_Silent_p.S263S	p.S263S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	4	923	-			263					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.789C>T	CCDS2727.1																																																																																				0.572	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		47	86	0	0	0	1	0	47	86				
E2F5	1875	broad.mit.edu	37	8	86124439	86124439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86124439G>A	ENST00000416274.2	+	7	965	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	E2F5_ENST00000418930.2_Splice_Site_p.V310M|E2F5_ENST00000256117.5_Splice_Site_p.V312M|E2F5_ENST00000517476.1_Splice_Site_p.V150M|E2F5_ENST00000521429.1_Splice_Site_p.V138M|E2F5_ENST00000519128.1_3'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	311	Transactivation. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCTTCTGACGGTAAGTAGGT	0.294																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.e7+1		E2F transcription factor 5, p130-binding							95.0	91.0	92.0					8																	86124439		1829	4073	5902	SO:0001630	splice_region_variant	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86124439G>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.931+1G>A	8.37:g.86124439G>A						E2F5_ENST00000521429.1_Splice_Site_p.V138_splice|E2F5_ENST00000416274.2_Splice_Site_p.V311_splice|E2F5_ENST00000256117.5_Splice_Site_p.V312_splice|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Splice_Site_p.V150_splice	p.V310_splice			Q15329	E2F5_HUMAN			7	1124	+			311			Transactivation (Potential).		E9PBN9|Q16601|Q92756	Splice_Site	SNP	ENST00000416274.2	37	c.928_splice	CCDS47885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.944198|3.944198	0.73672|0.73672	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000520225|ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.|D;D;D;D;D;D	.|0.85258	.|-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.209202	.|0.39544	.|N	.|0.001330	D|D	0.87386|0.87386	0.6164|0.6164	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.64830	.|0.992;0.994;0.99	.|P;P;B	.|0.53360	.|0.599;0.724;0.431	D|D	0.86765|0.86765	0.1969|0.1969	5|10	.|0.40728	.|T	.|0.16	-12.8388|-12.8388	13.2333|13.2333	0.59955|0.59955	0.0765:0.0:0.9235:0.0|0.0765:0.0:0.9235:0.0	.|.	.|138;310;311	.|E5RHD4;Q15329-2;Q15329	.|.;.;E2F5_HUMAN	Q|M	82|310;312;311;150;138;147	.|ENSP00000414312:V310M;ENSP00000256117:V312M;ENSP00000398124:V311M;ENSP00000429120:V150M;ENSP00000428606:V138M;ENSP00000429669:V147M	.|ENSP00000256117:V312M	R|V	+|+	2|1	0|0	E2F5|E2F5	86311691|86311691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.919000|6.919000	0.75793|0.75793	2.444000|2.444000	0.82710|0.82710	0.591000|0.591000	0.81541|0.81541	CGG|GTG		0.294	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951	Missense_Mutation	3	31	0	0	0	1	0	3	31				
FLNA	2316	broad.mit.edu	37	X	153596036	153596036	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153596036C>A	ENST00000369850.3	-	4	929	c.693G>T	c.(691-693)caG>caT	p.Q231H	FLNA_ENST00000422373.1_Missense_Mutation_p.Q231H|FLNA_ENST00000344736.4_Missense_Mutation_p.Q231H|FLNA_ENST00000360319.4_Missense_Mutation_p.Q231H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	231	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTCATCCGCCTGCTGCATGG	0.667																																						ENST00000422373.1																			0				breast(6)	6						c.(691-693)caG>caT		filamin A, alpha							69.0	79.0	76.0					X																	153596036		2160	4266	6426	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153596036C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.693G>T	X.37:g.153596036C>A	ENSP00000358866:p.Gln231His					FLNA_ENST00000344736.4_Missense_Mutation_p.Q231H|FLNA_ENST00000360319.4_Missense_Mutation_p.Q231H|FLNA_ENST00000369850.3_Missense_Mutation_p.Q231H	p.Q231H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			4	941	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		231			Actin-binding.|CH 2.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.693G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765204	0.31228	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	5.13	3.37	0.38596	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.94794	0.8319	L	0.42245	1.32	0.80722	D	1	D;D	0.69078	0.974;0.997	P;D	0.68192	0.838;0.956	D	0.93375	0.6738	10	0.72032	D	0.01	.	9.2445	0.37518	0.0:0.7589:0.0:0.2411	.	231;231	P21333-2;P21333	.;FLNA_HUMAN	H	231;204;231;231;231	ENSP00000353467:Q231H;ENSP00000416926:Q231H;ENSP00000358866:Q231H;ENSP00000358863:Q231H	ENSP00000358863:Q231H	Q	-	3	2	FLNA	153249230	0.985000	0.35326	0.991000	0.47740	0.686000	0.39977	0.335000	0.19806	0.397000	0.25310	0.509000	0.49947	CAG		0.667	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			44	72	1	0	6.03219e-31	1	8.08675e-31	44	72				
CCL5	6352	broad.mit.edu	37	17	34199458	34199458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34199458G>A	ENST00000293272.3	-	3	401	c.199C>T	c.(199-201)Cga>Tga	p.R67*	AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Nonsense_Mutation_p.R67*	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	67					activation of phospholipase D activity (GO:0031584)|calcium ion transport (GO:0006816)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular protein complex assembly (GO:0043623)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|eosinophil chemotaxis (GO:0048245)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of T cell apoptotic process (GO:0070233)|negative regulation of viral genome replication (GO:0045071)|neutrophil activation (GO:0042119)|positive chemotaxis (GO:0050918)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of innate immune response (GO:0045089)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell apoptotic process (GO:0070234)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of translational initiation (GO:0045948)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|positive regulation of viral genome replication (GO:0045070)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein tetramerization (GO:0051262)|regulation of chronic inflammatory response (GO:0002676)|regulation of insulin secretion (GO:0050796)|regulation of neuron death (GO:1901214)|regulation of T cell activation (GO:0050863)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR4 chemokine receptor binding (GO:0031729)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|chemokine receptor antagonist activity (GO:0046817)|chemokine receptor binding (GO:0042379)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase activator activity (GO:0016004)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|receptor signaling protein tyrosine kinase activator activity (GO:0030298)			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		CGGTTCTTTCGGGTGACAAAG	0.507																																						ENST00000293272.3																			0				breast(1)|kidney(1)|lung(1)	3						c.(199-201)Cga>Tga		chemokine (C-C motif) ligand 5							133.0	114.0	121.0					17																	34199458		2203	4300	6503	SO:0001587	stop_gained	6352				activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity	g.chr17:34199458G>A	AF043341	CCDS11300.1	17q11.2-q12	2014-04-17	2002-08-22	2002-08-23	ENSG00000161570	ENSG00000271503		"""Chemokine ligands"", ""Endogenous ligands"""	10632	protein-coding gene	gene with protein product	"""T-cell specific protein p288"", ""T-cell specific RANTES protein"", ""SIS-delta"", ""regulated upon activation, normally T-expressed, and presumably secreted"", ""beta-chemokine RANTES"", ""small inducible cytokine subfamily A (Cys-Cys), member 5"""	187011	"""small inducible cytokine A5 (RANTES)"""	D17S136E, SCYA5		1691736	Standard	NM_002985		Approved	RANTES, SISd, TCP228, MGC17164	uc002hkf.3	P13501	OTTHUMG00000188396	ENST00000293272.3:c.199C>T	17.37:g.34199458G>A	ENSP00000293272:p.Arg67*					AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Nonsense_Mutation_p.R67*	p.R67*	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)	3	401	-		Ovarian(249;0.17)	67					O43646|Q0QVW8|Q4ZGJ1|Q9NYA2|Q9UBG2|Q9UC99	Nonsense_Mutation	SNP	ENST00000293272.3	37	c.199C>T	CCDS11300.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440709	0.83993	.	.	ENSG00000161570	ENST00000293272;ENST00000366113	.	.	.	5.41	2.21	0.28008	.	0.269507	0.30695	N	0.009072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	11.3679	0.49684	0.0:0.0:0.4554:0.5446	.	.	.	.	X	67	.	ENSP00000293272:R67X	R	-	1	2	CCL5	31223571	1.000000	0.71417	0.815000	0.32552	0.949000	0.60115	1.544000	0.36158	0.335000	0.23614	0.561000	0.74099	CGA		0.507	CCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256486.3	NM_002985		9	66	0	0	0	1	0	9	66				
RSU1P2	100133308	broad.mit.edu	37	10	45602492	45602492	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45602492T>C	ENST00000423875.1	-	0	944									Ras suppressor protein 1 pseudogene 2																		TGGCAGGATTTCAAAACCGTT	0.418																																						ENST00000423875.1																			0																																																			0							g.chr10:45602492T>C			10q11.21	2013-06-03			ENSG00000242848	ENSG00000232554			44391	pseudogene	pseudogene							Standard	NR_024472		Approved		uc009xmq.2		OTTHUMG00000185442		10.37:g.45602492T>C														0	944	-									RNA	SNP	ENST00000423875.1	37																																																																																						0.418	RSU1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471233.1			3	26	0	0	0	1	0	3	26				
FAM160B2	64760	broad.mit.edu	37	8	21955336	21955336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21955336G>A	ENST00000289921.7	+	5	557	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	171										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGAGCTGCTCGCCTACATCCT	0.617																																						ENST00000289921.7																			0				endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						c.(511-513)Gcc>Acc		family with sequence similarity 160, member B2							34.0	38.0	37.0					8																	21955336		2023	4174	6197	SO:0001583	missense	64760							g.chr8:21955336G>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.511G>A	8.37:g.21955336G>A	ENSP00000289921:p.Ala171Thr						p.A171T	NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN			5	557	+			171					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.511G>A	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	9.817	1.184753	0.21870	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	4.56	-0.753	0.11068	.	0.814743	0.11812	N	0.527031	T	0.14485	0.0350	N	0.08118	0	0.23739	N	0.996979	B	0.11235	0.004	B	0.09377	0.004	T	0.24297	-1.0164	10	0.33141	T	0.24	-7.5838	9.5444	0.39271	0.3722:0.0:0.6278:0.0	.	171	Q86V87	F16B2_HUMAN	T	171	ENSP00000289921:A171T	ENSP00000289921:A171T	A	+	1	0	FAM160B2	22011282	0.000000	0.05858	0.946000	0.38457	0.963000	0.63663	0.636000	0.24644	-0.293000	0.08986	0.462000	0.41574	GCC		0.617	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			9	16	0	0	0	1	0	9	16				
ARHGEF19	128272	broad.mit.edu	37	1	16535349	16535349	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535349C>A	ENST00000270747.3	-	2	337	c.201G>T	c.(199-201)ctG>ctT	p.L67L	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	67					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGTCCCCAGGGACCAGC	0.662																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(199-201)ctG>ctT		Rho guanine nucleotide exchange factor (GEF) 19							22.0	29.0	27.0					1																	16535349		2196	4293	6489	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16535349C>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.201G>T	1.37:g.16535349C>A						ARHGEF19_ENST00000421561.1_Silent_p.L67L	p.L67L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	2	337	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	67					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.201G>T	CCDS170.1																																																																																				0.662	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		5	21	1	0	0.217242	1	0.218821	5	21				
ZC3H11A	9877	broad.mit.edu	37	1	203819731	203819731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819731C>T	ENST00000545588.1	+	15	5855	c.2028C>T	c.(2026-2028)caC>caT	p.H676H	ZC3H11A_ENST00000367214.1_Silent_p.H676H|ZC3H11A_ENST00000332127.4_Silent_p.H676H|ZC3H11A_ENST00000367212.3_Silent_p.H676H|ZC3H11A_ENST00000367210.1_Silent_p.H676H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	676					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGAGATGCACGCTGCTGTCA	0.502																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2026-2028)caC>caT		zinc finger CCCH-type containing 11A							91.0	88.0	89.0					1																	203819731		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819731C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2028C>T	1.37:g.203819731C>T						ZC3H11A_ENST00000332127.4_Silent_p.H676H|ZC3H11A_ENST00000367214.1_Silent_p.H676H|ZC3H11A_ENST00000367210.1_Silent_p.H676H|ZC3H11A_ENST00000367212.3_Silent_p.H676H	p.H676H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	5855	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		676					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.2028C>T	CCDS30978.1																																																																																				0.502	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		28	56	0	0	0	1	0	28	56				
RB1CC1	9821	broad.mit.edu	37	8	53570292	53570292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53570292C>T	ENST00000025008.5	-	15	2620	c.2097G>A	c.(2095-2097)acG>acA	p.T699T	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.T699T|RB1CC1_ENST00000435644.2_Silent_p.T699T	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	699					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAAATCAAACGTATGTGCAT	0.398																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2095-2097)acG>acA		RB1-inducible coiled-coil 1							109.0	110.0	110.0					8																	53570292		2203	4300	6503	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53570292C>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2097G>A	8.37:g.53570292C>T						RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.T699T|RB1CC1_ENST00000539297.1_Silent_p.T699T	p.T699T	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			15	2620	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	699					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.2097G>A	CCDS34892.1																																																																																				0.398	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		6	97	0	0	0	1	0	6	97				
ATP2A3	489	broad.mit.edu	37	17	3844865	3844865	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844865C>T	ENST00000352011.3	-	13	1683	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	ATP2A3_ENST00000397043.3_Silent_p.E543E|ATP2A3_ENST00000397035.3_Silent_p.E543E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Silent_p.E543E|ATP2A3_ENST00000359983.3_Silent_p.E543E|ATP2A3_ENST00000397041.3_Silent_p.E543E			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	543					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGATCTGCTCCCTGGAGG	0.682																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1627-1629)gaG>gaA		ATPase, Ca++ transporting, ubiquitous							54.0	57.0	56.0					17																	3844865		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844865C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1629G>A	17.37:g.3844865C>T						ATP2A3_ENST00000397043.3_Silent_p.E543E|ATP2A3_ENST00000359983.3_Silent_p.E543E|ATP2A3_ENST00000397035.3_Silent_p.E543E|ATP2A3_ENST00000397041.3_Silent_p.E543E|ATP2A3_ENST00000352011.3_Silent_p.E543E|ATP2A3_ENST00000397039.1_5'UTR	p.E543E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1779	-			543					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1629G>A	CCDS11041.1																																																																																				0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		26	38	0	0	0	1	0	26	38				
PDZD2	23037	broad.mit.edu	37	5	32088109	32088109	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32088109T>G	ENST00000438447.1	+	20	4943	c.4555T>G	c.(4555-4557)Ttt>Gtt	p.F1519V	PDZD2_ENST00000282493.3_Missense_Mutation_p.F1519V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1519					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						GAACAAAAACTTTCTGAGCAA	0.498																																						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.(4555-4557)Ttt>Gtt		PDZ domain containing 2							35.0	38.0	37.0					5																	32088109		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088109T>G	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.4555T>G	5.37:g.32088109T>G	ENSP00000402033:p.Phe1519Val					PDZD2_ENST00000282493.3_Missense_Mutation_p.F1519V	p.F1519V			O15018	PDZD2_HUMAN			20	4943	+			1519					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4555T>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134184	0.77662	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.31247	1.5;1.5	5.67	5.67	0.87782	.	0.116646	0.39341	N	0.001383	T	0.39384	0.1076	L	0.59436	1.845	0.39006	D	0.959458	D	0.53151	0.958	P	0.51833	0.681	T	0.24693	-1.0153	10	0.15066	T	0.55	.	13.8725	0.63629	0.0:0.0:0.0:1.0	.	1519	O15018	PDZD2_HUMAN	V	1519;1320;1519	ENSP00000402033:F1519V;ENSP00000282493:F1519V	ENSP00000282493:F1519V	F	+	1	0	PDZD2	32123866	1.000000	0.71417	0.766000	0.31476	0.867000	0.49689	4.493000	0.60341	2.164000	0.68074	0.533000	0.62120	TTT		0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	45	0	0	0	1	0	4	45				
AIM1	202	broad.mit.edu	37	6	106969007	106969007	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969007C>A	ENST00000369066.3	+	2	3187	c.2700C>A	c.(2698-2700)tcC>tcA	p.S900S		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCGACAACTCCTTAAAGGTCT	0.463																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2698-2700)tcC>tcA		absent in melanoma 1							97.0	105.0	102.0					6																	106969007		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106969007C>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2700C>A	6.37:g.106969007C>A							p.S900S	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3187	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	900					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.2700C>A	CCDS34506.1																																																																																				0.463	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			6	113	1	0	0.0293803	1	0.0301098	6	113				
TMEM53	79639	broad.mit.edu	37	1	45120599	45120599	+	Missense_Mutation	SNP	G	G	A	rs370178826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45120599G>A	ENST00000372237.3	-	3	629	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R126W|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	156						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCAGGGCCCGCAGAGCCCCT	0.677																																						ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(466-468)Cgg>Tgg		transmembrane protein 53		G	TRP/ARG	0,4406		0,0,2203	23.0	25.0	25.0		466	1.4	1.0	1		25	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM53	NM_024587.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	156/278	45120599	1,13005	2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120599G>A		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.466C>T	1.37:g.45120599G>A	ENSP00000361311:p.Arg156Trp					TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R126W	p.R156W	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	629	-	Acute lymphoblastic leukemia(166;0.155)		156					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.466C>T	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257302	0.80246	0.0	1.16E-4	ENSG00000126106	ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.82	1.39	0.22231	.	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72235	-0.4352	9	0.62326	D	0.03	.	6.1031	0.20059	0.0641:0.1095:0.5289:0.2974	.	156	Q6P2H8	TMM53_HUMAN	W	156;126;125	.	ENSP00000361309:R126W	R	-	1	2	TMEM53	44893186	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.928000	0.56506	-0.016000	0.14127	0.563000	0.77884	CGG		0.677	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		8	10	0	0	0	1	0	8	10				
DNAH5	1767	broad.mit.edu	37	5	13737379	13737379	+	Missense_Mutation	SNP	G	G	A	rs140948493	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13737379G>A	ENST00000265104.4	-	66	11541	c.11437C>T	c.(11437-11439)Cgg>Tgg	p.R3813W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3813					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTCCTCCCGGGCTGAGTTA	0.423									Kartagener syndrome				G|||	2	0.000399361	0.0	0.0	5008	,	,		17226	0.0		0.002	False		,,,				2504	0.0					ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11437-11439)Cgg>Tgg		dynein, axonemal, heavy chain 5		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	123.0	126.0	125.0		11437	4.6	1.0	5	dbSNP_134	125	19,8581	14.0+/-48.4	0,19,4281	yes	missense	DNAH5	NM_001369.2	101	0,22,6481	AA,AG,GG		0.2209,0.0681,0.1692	probably-damaging	3813/4625	13737379	22,12984	2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737379G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11437C>T	5.37:g.13737379G>A	ENSP00000265104:p.Arg3813Trp						p.R3813W	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			66	11541	-	Lung NSC(4;0.00476)		3813					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11437C>T	CCDS3882.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.72	3.683683	0.68157	6.81E-4	0.002209	ENSG00000039139	ENST00000265104	T	0.54866	0.55	5.44	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	H	0.99906	4.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92620	0.6107	10	0.87932	D	0	.	15.4387	0.75165	0.0:0.0:0.8601:0.1399	.	3813	Q8TE73	DYH5_HUMAN	W	3813	ENSP00000265104:R3813W	ENSP00000265104:R3813W	R	-	1	2	DNAH5	13790379	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.435000	0.59941	1.269000	0.44280	0.655000	0.94253	CGG		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		56	79	0	0	0	1	0	56	79				
ABCA10	10349	broad.mit.edu	37	17	67197727	67197727	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67197727G>T	ENST00000269081.4	-	11	1998	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	ABCA10_ENST00000432313.2_Silent_p.I363I|ABCA10_ENST00000416101.2_Silent_p.I363I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	363					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I363I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATTCTCAAAGATTTCATGAT	0.338																																						ENST00000269081.4																			1	Substitution - coding silent(1)	p.I363I(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1087-1089)atC>atA		ATP-binding cassette, sub-family A (ABC1), member 10							79.0	83.0	82.0					17																	67197727		2203	4298	6501	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67197727G>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1089C>A	17.37:g.67197727G>T						ABCA10_ENST00000416101.2_Silent_p.I363I|ABCA10_ENST00000432313.2_Silent_p.I363I	p.I363I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			11	1998	-	Breast(10;6.95e-12)		363					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.1089C>A	CCDS11684.1																																																																																				0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		26	56	1	0	7.92952e-12	1	9.92272e-12	26	56				
POFUT1	23509	broad.mit.edu	37	20	30822373	30822373	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30822373C>A	ENST00000375749.3	+	7	1138	c.1076C>A	c.(1075-1077)aCt>aAt	p.T359N	POFUT1_ENST00000539210.1_Missense_Mutation_p.T148N	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	359					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCCTTCACTGCCTTTGTG	0.607																																						ENST00000375749.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6						c.(1075-1077)aCt>aAt		protein O-fucosyltransferase 1							120.0	98.0	106.0					20																	30822373		2203	4300	6503	SO:0001583	missense	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30822373C>A	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.1076C>A	20.37:g.30822373C>A	ENSP00000364902:p.Thr359Asn					POFUT1_ENST00000539210.1_Missense_Mutation_p.T148N	p.T359N	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	1138	+			359					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	c.1076C>A	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230453	0.95207	.	.	ENSG00000101346	ENST00000375749;ENST00000539210	T;T	0.32515	1.45;1.45	5.37	5.37	0.77165	.	0.096735	0.64402	D	0.000001	T	0.57681	0.2070	M	0.80422	2.495	0.80722	D	1	D	0.63046	0.992	P	0.61275	0.886	T	0.62305	-0.6882	10	0.72032	D	0.01	-5.27	19.4623	0.94922	0.0:1.0:0.0:0.0	.	359	Q9H488	OFUT1_HUMAN	N	359;148	ENSP00000364902:T359N;ENSP00000446154:T148N	ENSP00000364902:T359N	T	+	2	0	POFUT1	30286034	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	7.744000	0.85034	2.670000	0.90874	0.650000	0.86243	ACT		0.607	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		14	102	1	0	4.7546e-09	1	5.74312e-09	14	102				
EPHB4	2050	broad.mit.edu	37	7	100410454	100410454	+	Missense_Mutation	SNP	C	C	T	rs55692440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100410454C>T	ENST00000358173.3	-	12	2501	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.R678H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs55692440). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCCTCCAGGCGGATGATATT	0.612																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2032-2034)cGc>cAc		EPH receptor B4		C	HIS/ARG	0,4406		0,0,2203	102.0	97.0	98.0		2033	4.8	1.0	7	dbSNP_129	98	2,8598	2.2+/-6.3	0,2,4298	no	missense	EPHB4	NM_004444.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	678/988	100410454	2,13004	2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100410454C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2033G>A	7.37:g.100410454C>T	ENSP00000350896:p.Arg678His					EPHB4_ENST00000360620.3_Missense_Mutation_p.R678H	p.R678H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			12	2501	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		678		R -> H (in dbSNP:rs55692440).	Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2033G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	7.069	0.567850	0.13560	0.0	2.33E-4	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.64803	-0.12;-0.12	4.79	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000054	T	0.62974	0.2472	M	0.83692	2.655	0.45899	D	0.998749	B;B	0.20671	0.017;0.047	B;B	0.10450	0.002;0.005	T	0.61628	-0.7024	10	0.11794	T	0.64	.	15.6721	0.77286	0.0:1.0:0.0:0.0	rs55692440	678;678	Q96L35;P54760	.;EPHB4_HUMAN	H	678	ENSP00000353833:R678H;ENSP00000350896:R678H	ENSP00000350896:R678H	R	-	2	0	EPHB4	100248390	0.880000	0.30214	1.000000	0.80357	0.502000	0.33828	1.659000	0.37387	2.368000	0.80403	0.650000	0.86243	CGC		0.612	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		31	72	0	0	0	1	0	31	72				
ZFX	7543	broad.mit.edu	37	X	24197584	24197584	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197584G>T	ENST00000379177.1	+	6	770	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	ZFX_ENST00000304543.5_Missense_Mutation_p.D115Y|ZFX_ENST00000379188.3_Missense_Mutation_p.D115Y|ZFX_ENST00000338565.3_Missense_Mutation_p.D115Y|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.D154Y|ZFX_ENST00000459724.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	115					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAGTCCCAGATGATGTTTT	0.443																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(343-345)Gat>Tat		zinc finger protein, X-linked							354.0	275.0	302.0					X																	24197584		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24197584G>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.343G>T	X.37:g.24197584G>T	ENSP00000368475:p.Asp115Tyr					ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.D115Y|ZFX_ENST00000379188.3_Missense_Mutation_p.D115Y|ZFX_ENST00000540034.1_Missense_Mutation_p.D154Y|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.D115Y	p.D115Y	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			6	770	+			115					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.343G>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221817	0.79464	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	6.08	6.08	0.98989	Transcriptional activator, Zfx / Zfy domain (1);	0.073806	0.56097	D	0.000036	T	0.76292	0.3967	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	0.987;1.0;0.99;1.0	D;D;D;D	0.77004	0.917;0.989;0.916;0.978	T	0.77408	-0.2599	10	0.87932	D	0	-35.2014	19.5098	0.95137	0.0:0.0:1.0:0.0	.	154;115;115;119	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	Y	115;115;115;115;115;154;115	ENSP00000411637:D115Y;ENSP00000368486:D115Y;ENSP00000368475:D115Y;ENSP00000304985:D115Y;ENSP00000441382:D154Y;ENSP00000343384:D115Y	ENSP00000304985:D115Y	D	+	1	0	ZFX	24107505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.562000	0.86427	0.600000	0.82982	GAT		0.443	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		8	304	1	0	5.68852e-11	1	7.05143e-11	8	304				
ZNF189	7743	broad.mit.edu	37	9	104171082	104171082	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104171082T>A	ENST00000339664.2	+	3	1161	c.1032T>A	c.(1030-1032)ttT>ttA	p.F344L	ZNF189_ENST00000259395.4_Missense_Mutation_p.F302L|ZNF189_ENST00000374861.3_Missense_Mutation_p.F330L	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	344					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGAAGCCTTTTCTTTGTATTG	0.418																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(988-990)ttT>ttA		zinc finger protein 189							79.0	86.0	83.0					9																	104171082		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171082T>A	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1032T>A	9.37:g.104171082T>A	ENSP00000342019:p.Phe344Leu					ZNF189_ENST00000339664.2_Missense_Mutation_p.F344L|ZNF189_ENST00000259395.4_Missense_Mutation_p.F302L	p.F330L	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	1274	+		Acute lymphoblastic leukemia(62;0.0559)	344					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.990T>A	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128592	0.37533	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.21932	1.98;1.98;1.98	4.79	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000126	T	0.36853	0.0982	M	0.63208	1.945	0.39267	D	0.964321	D;D;D	0.65815	0.971;0.995;0.971	P;D;P	0.66979	0.852;0.948;0.646	T	0.17319	-1.0373	10	0.72032	D	0.01	.	7.8921	0.29684	0.0:0.1724:0.0:0.8276	.	329;330;344	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	L	330;344;302	ENSP00000363995:F330L;ENSP00000342019:F344L;ENSP00000259395:F302L	ENSP00000259395:F302L	F	+	3	2	ZNF189	103210903	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-1.024000	0.03603	0.576000	0.29452	-0.256000	0.11100	TTT		0.418	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		10	82	0	0	0	1	0	10	82				
UBTD1	80019	broad.mit.edu	37	10	99329915	99329915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99329915G>A	ENST00000370664.3	+	3	655	c.319G>A	c.(319-321)Gat>Aat	p.D107N	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000307518.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	107										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAATGCTACGATGAGCTGGG	0.582																																					Pancreas(100;169 2668 32720)	ENST00000370664.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(319-321)Gat>Aat		ubiquitin domain containing 1							91.0	103.0	99.0					10																	99329915		2203	4300	6503	SO:0001583	missense	80019							g.chr10:99329915G>A	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.319G>A	10.37:g.99329915G>A	ENSP00000359698:p.Asp107Asn						p.D107N	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	3	655	+		Colorectal(252;0.162)	107					D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	c.319G>A	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174620	0.94807	.	.	ENSG00000165886	ENST00000370664	T	0.80738	-1.41	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93167	0.6563	10	0.87932	D	0	-20.3796	18.6768	0.91531	0.0:0.0:1.0:0.0	.	107	Q9HAC8	UBTD1_HUMAN	N	107	ENSP00000359698:D107N	ENSP00000359698:D107N	D	+	1	0	UBTD1	99319905	1.000000	0.71417	0.968000	0.41197	0.946000	0.59487	9.813000	0.99286	2.687000	0.91594	0.655000	0.94253	GAT		0.582	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		51	81	0	0	0	1	0	51	81				
BRSK2	9024	broad.mit.edu	37	11	1464847	1464847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1464847C>T	ENST00000528841.1	+	8	1146	c.762C>T	c.(760-762)gaC>gaT	p.D254D	BRSK2_ENST00000308219.9_Silent_p.D254D|BRSK2_ENST00000528710.1_Silent_p.D194D|BRSK2_ENST00000531197.1_Silent_p.D254D|BRSK2_ENST00000526678.1_Silent_p.D254D|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000382179.1_Silent_p.D300D|BRSK2_ENST00000308230.5_Silent_p.D254D			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCGAGGTGGACGCCGCACGCC	0.711																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(760-762)gaC>gaT		BR serine/threonine kinase 2							17.0	21.0	19.0					11																	1464847		2128	4253	6381	SO:0001819	synonymous_variant	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1464847C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.762C>T	11.37:g.1464847C>T						BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000531197.1_Silent_p.D254D|BRSK2_ENST00000526678.1_Silent_p.D254D|BRSK2_ENST00000528841.1_Silent_p.D254D|BRSK2_ENST00000528710.1_Silent_p.D194D|BRSK2_ENST00000382179.1_Silent_p.D300D|BRSK2_ENST00000308230.5_Silent_p.D254D	p.D254D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	8	1148	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	254			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	c.762C>T	CCDS58107.1																																																																																				0.711	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		6	9	0	0	0	1	0	6	9				
ZEB2	9839	broad.mit.edu	37	2	145147242	145147242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147242C>T	ENST00000558170.2	-	10	4605	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K	ZEB2_ENST00000409487.3_Missense_Mutation_p.E1141K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1141K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1117K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1141	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTTCTTTCTCGTGCTCCTTC	0.547																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3421-3423)Gag>Aag		zinc finger E-box binding homeobox 2							201.0	169.0	180.0					2																	145147242		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147242C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3421G>A	2.37:g.145147242C>T	ENSP00000454157:p.Glu1141Lys					ZEB2_ENST00000303660.4_Missense_Mutation_p.E1141K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1117K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1141K	p.E1141K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4605	-			1141			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3421G>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987059	0.74589	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15372	2.45;2.43;2.43	5.51	5.51	0.81932	.	0.359576	0.32258	N	0.006351	T	0.10637	0.0260	N	0.08118	0	0.45490	D	0.998457	B;B;B	0.33022	0.394;0.273;0.273	B;B;B	0.25506	0.061;0.028;0.028	T	0.18745	-1.0327	10	0.44086	T	0.13	-3.7058	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1117;1140;1141	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1117;1141;1141	ENSP00000443792:E1117K;ENSP00000302501:E1141K;ENSP00000386854:E1141K	ENSP00000302501:E1141K	E	-	1	0	ZEB2	144863712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.746000	0.94184	0.591000	0.81541	GAG		0.547	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		16	121	0	0	0	1	0	16	121				
NOL11	25926	broad.mit.edu	37	17	65733763	65733763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65733763G>A	ENST00000253247.4	+	12	1473	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	NOL11_ENST00000535137.1_Missense_Mutation_p.R271Q	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	453					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTATCCCCGGAACTGTCTG	0.433																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(1357-1359)cGg>cAg		nucleolar protein 11							144.0	129.0	134.0					17																	65733763		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65733763G>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1358G>A	17.37:g.65733763G>A	ENSP00000253247:p.Arg453Gln					NOL11_ENST00000535137.1_Missense_Mutation_p.R271Q	p.R453Q	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	1473	+	all_cancers(12;1.54e-10)		453					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.1358G>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	7.176	0.588708	0.13812	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.41400	1.0	4.87	2.46	0.29980	.	0.382752	0.28343	N	0.015691	T	0.22399	0.0540	N	0.25286	0.73	0.31331	N	0.684851	B	0.02656	0.0	B	0.01281	0.0	T	0.18808	-1.0325	10	0.10377	T	0.69	-7.1672	7.1694	0.25710	0.3258:0.0:0.6742:0.0	.	453	Q9H8H0	NOL11_HUMAN	Q	453;271	ENSP00000253247:R453Q	ENSP00000253247:R453Q	R	+	2	0	NOL11	63164225	0.013000	0.17824	0.999000	0.59377	0.078000	0.17371	0.622000	0.24433	1.159000	0.42565	-0.137000	0.14449	CGG		0.433	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		41	88	0	0	0	1	0	41	88				
GABRQ	55879	broad.mit.edu	37	X	151806759	151806759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151806759G>A	ENST00000370306.2	+	1	123	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	35					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTCCACTTCGAGTTCTCCTC	0.637																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(103-105)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, theta							109.0	86.0	94.0					X																	151806759		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151806759G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.103G>A	X.37:g.151806759G>A	ENSP00000359329:p.Glu35Lys						p.E35K	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			1	123	+	Acute lymphoblastic leukemia(192;6.56e-05)		35					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.103G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381237	0.61845	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	T	0.79141	-1.24	3.82	1.98	0.26296	.	.	.	.	.	T	0.55162	0.1903	L	0.29908	0.895	0.09310	N	1	P	0.47253	0.892	B	0.27262	0.078	T	0.52704	-0.8540	9	0.62326	D	0.03	.	3.8794	0.09071	0.129:0.0:0.635:0.2359	.	35	Q9UN88	GBRT_HUMAN	K	35;30	ENSP00000359329:E35K	ENSP00000331410:E30K	E	+	1	0	GABRQ	151557415	0.004000	0.15560	0.000000	0.03702	0.677000	0.39632	1.404000	0.34623	0.400000	0.25396	0.468000	0.43344	GAG		0.637	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		10	58	0	0	0	1	0	10	58				
PARP8	79668	broad.mit.edu	37	5	50125766	50125766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50125766C>T	ENST00000281631.5	+	22	2362	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.P446L|PARP8_ENST00000503750.2_Missense_Mutation_p.P693L|PARP8_ENST00000514067.2_Missense_Mutation_p.P693L|PARP8_ENST00000505697.2_Missense_Mutation_p.P735L|PARP8_ENST00000505554.1_Missense_Mutation_p.P714L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	735	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TATCTTAGTCCAATGTCAAGC	0.333																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2203-2205)cCa>cTa		poly (ADP-ribose) polymerase family, member 8							206.0	200.0	202.0					5																	50125766		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50125766C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2204C>T	5.37:g.50125766C>T	ENSP00000281631:p.Pro735Leu					PARP8_ENST00000505554.1_Missense_Mutation_p.P714L|PARP8_ENST00000514067.2_Missense_Mutation_p.P693L|PARP8_ENST00000505697.2_Missense_Mutation_p.P735L|PARP8_ENST00000503750.2_Missense_Mutation_p.P693L|PARP8_ENST00000514342.2_Missense_Mutation_p.P446L|PARP8_ENST00000511363.2_3'UTR	p.P735L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			22	2362	+		Lung NSC(810;0.0305)|Breast(144;0.222)	735			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2204C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155466	0.78114	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	5.66	5.66	0.87406	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.129690	0.53938	D	0.000053	T	0.29914	0.0748	L	0.38838	1.175	0.80722	D	1	P;D;P	0.76494	0.64;0.999;0.454	B;D;B	0.80764	0.228;0.994;0.176	T	0.00525	-1.1689	9	.	.	.	-13.7016	19.76	0.96311	0.0:1.0:0.0:0.0	.	627;693;735	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	L	735;693;446;735;693;714;446;446	ENSP00000422217:P735L;ENSP00000440851:P693L;ENSP00000439022:P446L;ENSP00000281631:P735L;ENSP00000424814:P693L;ENSP00000423946:P714L	.	P	+	2	0	PARP8	50161523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.666000	0.90696	0.655000	0.94253	CCA		0.333	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		29	55	0	0	0	1	0	29	55				
RIN1	9610	broad.mit.edu	37	11	66102528	66102528	+	Missense_Mutation	SNP	G	G	A	rs141887009		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102528G>A	ENST00000311320.4	-	6	868	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Missense_Mutation_p.R143C|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.R143C	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	248					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GTGGACACGCGCACTTTGAAG	0.667																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(742-744)Cgc>Tgc		Ras and Rab interactor 1		G	CYS/ARG	3,4397	8.1+/-20.4	0,3,2197	60.0	56.0	57.0		742	3.5	1.0	11	dbSNP_134	57	0,8590		0,0,4295	yes	missense	RIN1	NM_004292.2	180	0,3,6492	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	248/784	66102528	3,12987	2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102528G>A	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.742C>T	11.37:g.66102528G>A	ENSP00000310406:p.Arg248Cys					RIN1_ENST00000424433.2_Missense_Mutation_p.R143C|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.R143C	p.R248C	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	868	-			248					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.742C>T	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970061	0.74246	6.82E-4	0.0	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.16457	2.92;2.77;2.34	4.43	3.51	0.40186	.	0.171750	0.33980	N	0.004373	T	0.34337	0.0894	M	0.61703	1.905	0.50171	D	0.999852	D;B	0.89917	1.0;0.425	D;B	0.79784	0.993;0.035	T	0.04708	-1.0932	10	0.72032	D	0.01	-10.2194	8.3346	0.32206	0.1118:0.0:0.8882:0.0	.	143;248	E9PNR2;Q13671	.;RIN1_HUMAN	C	248;143;143	ENSP00000310406:R248C;ENSP00000400560:R143C;ENSP00000432798:R143C	ENSP00000310406:R248C	R	-	1	0	RIN1	65859104	0.998000	0.40836	0.997000	0.53966	0.974000	0.67602	2.601000	0.46249	0.991000	0.38814	0.462000	0.41574	CGC		0.667	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		37	32	0	0	0	1	0	37	32				
CDC23	8697	broad.mit.edu	37	5	137536863	137536863	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137536863G>T	ENST00000394886.2	-	6	617	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAAACATGAGTAGCTTCCAC	0.418																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(586-588)aCt>aAt		cell division cycle 23							135.0	124.0	128.0					5																	137536863		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137536863G>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.587C>A	5.37:g.137536863G>T	ENSP00000378350:p.Thr196Asn						p.T196N	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	617	-			196					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.587C>A	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762141	0.69763	.	.	ENSG00000094880	ENST00000394886	T	0.63255	-0.03	5.95	5.95	0.96441	Tetratricopeptide-like helical (1);	0.093830	0.64402	D	0.000001	T	0.58807	0.2148	L	0.29908	0.895	0.80722	D	1	B	0.19935	0.04	B	0.29716	0.106	T	0.55457	-0.8138	10	0.87932	D	0	-17.7954	20.4024	0.99000	0.0:0.0:1.0:0.0	.	196	Q9UJX2	CDC23_HUMAN	N	196	ENSP00000378350:T196N	ENSP00000378350:T196N	T	-	2	0	CDC23	137564762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.287000	0.72671	2.827000	0.97445	0.650000	0.86243	ACT		0.418	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			33	43	1	0	9.17885e-22	1	1.20931e-21	33	43				
TACC2	10579	broad.mit.edu	37	10	123846233	123846233	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846233A>C	ENST00000369005.1	+	4	4558	c.4218A>C	c.(4216-4218)ccA>ccC	p.P1406P	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P1406P|TACC2_ENST00000334433.3_Silent_p.P1406P|TACC2_ENST00000515603.1_Silent_p.P1406P|TACC2_ENST00000515273.1_Silent_p.P1406P|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1406					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGCTTCCCAGACTTCAGGG	0.597																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4216-4218)ccA>ccC		transforming, acidic coiled-coil containing protein 2							83.0	75.0	78.0					10																	123846233		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846233A>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4218A>C	10.37:g.123846233A>C						TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.P1406P|TACC2_ENST00000515273.1_Silent_p.P1406P|TACC2_ENST00000453444.2_Silent_p.P1406P|TACC2_ENST00000515603.1_Silent_p.P1406P	p.P1406P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	4558	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1406					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.4218A>C	CCDS7626.1																																																																																				0.597	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			6	49	0	0	0	1	0	6	49				
ZFC3H1	196441	broad.mit.edu	37	12	72027072	72027072	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72027072C>T	ENST00000378743.3	-	13	3015	c.2657G>A	c.(2656-2658)aGa>aAa	p.R886K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	886					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAAACATTCTGTTAACATT	0.299																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2656-2658)aGa>aAa		zinc finger, C3H1-type containing							53.0	49.0	50.0					12																	72027072		1801	4048	5849	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72027072C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2657G>A	12.37:g.72027072C>T	ENSP00000368017:p.Arg886Lys						p.R886K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			13	3015	-			886					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2657G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	5.005	0.186532	0.09495	.	.	ENSG00000133858	ENST00000378743	T	0.26373	1.74	5.04	4.15	0.48705	.	0.224379	0.38326	N	0.001737	T	0.10508	0.0257	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10989	-1.0606	10	0.06757	T	0.87	.	8.4985	0.33144	0.0:0.7721:0.0:0.2279	.	886	O60293	ZC3H1_HUMAN	K	886	ENSP00000368017:R886K	ENSP00000368017:R886K	R	-	2	0	ZFC3H1	70313339	0.831000	0.29352	1.000000	0.80357	0.659000	0.38960	0.139000	0.16036	1.112000	0.41740	0.460000	0.39030	AGA		0.299	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	12	0	0	0	1	0	7	12				
UBR4	23352	broad.mit.edu	37	1	19403375	19403375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19403375C>A	ENST00000375254.3	-	105	15373	c.15346G>T	c.(15346-15348)Gag>Tag	p.E5116*	UBR4_ENST00000543981.1_Nonsense_Mutation_p.E780*|UBR4_ENST00000375224.1_Nonsense_Mutation_p.E823*|UBR4_ENST00000429347.2_Nonsense_Mutation_p.E639*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.E5092*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.E5137*|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375225.3_Nonsense_Mutation_p.E191*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.E5109*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5116					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCTCCCTCTGTGTTACTG	0.542																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(15409-15411)Gag>Tag		ubiquitin protein ligase E3 component n-recognin 4							152.0	130.0	137.0					1																	19403375		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19403375C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15346G>T	1.37:g.19403375C>A	ENSP00000364403:p.Glu5116*					UBR4_ENST00000375224.1_Nonsense_Mutation_p.E823*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.E5116*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.E5109*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.E5092*|UBR4_ENST00000375225.3_Nonsense_Mutation_p.E191*|UBR4_ENST00000543981.1_Nonsense_Mutation_p.E780*|UBR4_ENST00000429347.2_Nonsense_Mutation_p.E639*	p.E5137*			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	106	15412	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5116					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.15409G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	39	7.849718	0.98525	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	.	.	.	5.79	5.79	0.91817	.	0.057625	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.6038	0.91259	0.0:1.0:0.0:0.0	.	.	.	.	X	5116;5137;5109;5092;191;823;639;780	.	ENSP00000364365:E5109X	E	-	1	0	UBR4	19275962	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GAG		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	76	1	0	0.00307968	1	0.00325696	8	76				
CAPN13	92291	broad.mit.edu	37	2	30959398	30959398	+	Nonsense_Mutation	SNP	G	G	A	rs374855001		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30959398G>A	ENST00000295055.8	-	18	1869	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	CAPN13_ENST00000534090.2_Nonsense_Mutation_p.R565*	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	565	EF-hand 1.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCACAGTCGCGCAAACTCC	0.537													g|||	1	0.000199681	0.0	0.0	5008	,	,		20520	0.001		0.0	False		,,,				2504	0.0					ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1693-1695)Cga>Tga		calpain 13			stop/ARG	0,4036		0,0,2018	92.0	97.0	95.0		1693	0.7	0.0	2		95	1,8355		0,1,4177	no	stop-gained	CAPN13	NM_144575.2		0,1,6195	AA,AG,GG		0.012,0.0,0.0081		565/670	30959398	1,12391	2018	4178	6196	SO:0001587	stop_gained	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30959398G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1693C>T	2.37:g.30959398G>A	ENSP00000295055:p.Arg565*					CAPN13_ENST00000534090.2_Nonsense_Mutation_p.R565*	p.R565*	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			18	1869	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		565			EF-hand 1.		Q17RF0|Q580X1|Q8TE80	Nonsense_Mutation	SNP	ENST00000295055.8	37	c.1693C>T	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.660889	0.88154	0.0	1.2E-4	ENSG00000162949	ENST00000295055;ENST00000534090	.	.	.	5.06	0.716	0.18191	.	0.508313	0.20138	N	0.098425	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	11.6863	0.51487	0.0:0.0:0.6542:0.3458	.	.	.	.	X	565	.	ENSP00000295055:R565X	R	-	1	2	CAPN13	30812902	0.028000	0.19301	0.011000	0.14972	0.002000	0.02628	0.847000	0.27696	0.310000	0.22990	-0.327000	0.08410	CGA		0.537	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		18	28	0	0	0	1	0	18	28				
FAT2	2196	broad.mit.edu	37	5	150911154	150911154	+	Missense_Mutation	SNP	G	G	A	rs376862533	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150911154G>A	ENST00000261800.5	-	13	9817	c.9805C>T	c.(9805-9807)Cgc>Tgc	p.R3269C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3269	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCTGTGCGAGCATCCAGG	0.652													G|||	4	0.000798722	0.0	0.0014	5008	,	,		17629	0.002		0.0	False		,,,				2504	0.001					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9805-9807)Cgc>Tgc		FAT atypical cadherin 2																																				SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911154G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9805C>T	5.37:g.150911154G>A	ENSP00000261800:p.Arg3269Cys						p.R3269C	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9817	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3269			Cadherin 29.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9805C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.31|14.31	2.496048|2.496048	0.44352|0.44352	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.53206|.	0.63|.	5.21|5.21	3.41|3.41	0.39046|0.39046	Cadherin (4);Cadherin-like (1);|.	0.632630|.	0.15630|.	N|.	0.252458|.	T|T	0.47210|0.47210	0.1433|0.1433	M|M	0.76574|0.76574	2.34|2.34	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	P|.	0.60345|.	0.873|.	T|T	0.44097|0.44097	-0.9350|-0.9350	10|5	0.59425|.	D|.	0.04|.	.|.	4.0531|4.0531	0.09804|0.09804	0.0802:0.2404:0.4945:0.1848|0.0802:0.2404:0.4945:0.1848	.|.	3269|.	Q9NYQ8|.	FAT2_HUMAN|.	C|L	3269|127	ENSP00000261800:R3269C|.	ENSP00000261800:R3269C|.	R|S	-|-	1|2	0|0	FAT2|FAT2	150891347|150891347	0.015000|0.015000	0.18098|0.18098	0.130000|0.130000	0.21974|0.21974	0.730000|0.730000	0.41778|0.41778	1.941000|1.941000	0.40233|0.40233	0.587000|0.587000	0.29643|0.29643	-0.314000|-0.314000	0.08810|0.08810	CGC|TCG		0.652	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	12	0	0	0	1	0	8	12				
BATF	10538	broad.mit.edu	37	14	75991505	75991505	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75991505A>G	ENST00000286639.6	+	2	400	c.142A>G	c.(142-144)Aca>Gca	p.T48A	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Missense_Mutation_p.T48A	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	48	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		ACAGAGGCAGACACAGAAGGC	0.547																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(142-144)Aca>Gca		basic leucine zipper transcription factor, ATF-like							92.0	76.0	81.0					14																	75991505		2203	4300	6503	SO:0001583	missense	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:75991505A>G	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.142A>G	14.37:g.75991505A>G	ENSP00000286639:p.Thr48Ala					BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Missense_Mutation_p.T48A	p.T48A	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	2	400	+			48						Missense_Mutation	SNP	ENST00000286639.6	37	c.142A>G	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.970279	0.92855	.	.	ENSG00000156127	ENST00000286639;ENST00000555504	T	0.52754	0.65	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.73217	2.22	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.70876	-0.4753	10	0.62326	D	0.03	-7.3893	15.9958	0.80243	1.0:0.0:0.0:0.0	.	48	Q16520	BATF_HUMAN	A	48	ENSP00000286639:T48A	ENSP00000286639:T48A	T	+	1	0	BATF	75061258	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.751000	0.91628	2.188000	0.69820	0.533000	0.62120	ACA		0.547	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		7	15	0	0	0	1	0	7	15				
UNC13B	10497	broad.mit.edu	37	9	35381199	35381199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35381199C>T	ENST00000378495.3	+	18	2453	c.2231C>T	c.(2230-2232)aCa>aTa	p.T744I	UNC13B_ENST00000378496.4_Missense_Mutation_p.T744I|UNC13B_ENST00000396787.1_Missense_Mutation_p.T756I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	744					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCAGTATACATGTCTCCAT	0.527																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2230-2232)aCa>aTa		unc-13 homolog B (C. elegans)							88.0	73.0	78.0					9																	35381199		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35381199C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2231C>T	9.37:g.35381199C>T	ENSP00000367756:p.Thr744Ile					UNC13B_ENST00000396787.1_Missense_Mutation_p.T756I|UNC13B_ENST00000378496.4_Missense_Mutation_p.T744I	p.T744I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		18	2453	+	all_epithelial(49;0.212)		744					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2231C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065893	0.76187	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85484	-1.86;-1.79;-1.99	5.63	5.63	0.86233	C2 calcium/lipid-binding domain, CaLB (1);	0.094319	0.64402	D	0.000001	D	0.91355	0.7273	M	0.65320	2	0.80722	D	1	D;D	0.71674	0.972;0.998	P;D	0.67725	0.641;0.953	D	0.91716	0.5385	10	0.87932	D	0	-11.637	19.6708	0.95911	0.0:1.0:0.0:0.0	.	744;744	F8W8M9;O14795	.;UN13B_HUMAN	I	756;744;744;331	ENSP00000380006:T756I;ENSP00000367756:T744I;ENSP00000367757:T744I	ENSP00000367756:T744I	T	+	2	0	UNC13B	35371199	1.000000	0.71417	0.878000	0.34440	0.331000	0.28603	6.092000	0.71414	2.661000	0.90470	0.585000	0.79938	ACA		0.527	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		6	12	0	0	0	1	0	6	12				
CACNA1B	774	broad.mit.edu	37	9	140953109	140953109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140953109C>T	ENST00000371372.1	+	29	4542	c.4397C>T	c.(4396-4398)aCa>aTa	p.T1466I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1467I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1466I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.T662I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1467I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1466I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1466					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGACGTGGACATTTGTGGTC	0.552																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1984-1986)aCa>aTa		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						70.0	68.0	69.0					9																	140953109		2050	4174	6224	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140953109C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4397C>T	9.37:g.140953109C>T	ENSP00000360423:p.Thr1466Ile					CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1467I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1467I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T1466I	p.T662I			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	30	4554	+	all_cancers(76;0.166)		1466					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1985C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515563	0.64634	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.96913	-3.94;-3.94;-4.17;-3.94;-3.92;-3.93	5.47	4.51	0.55191	.	0.103263	0.64402	D	0.000004	D	0.89577	0.6755	N	0.14661	0.345	0.35900	D	0.830283	B;P;P	0.43701	0.017;0.688;0.815	B;B;B	0.37780	0.002;0.258;0.258	D	0.90131	0.4206	10	0.37606	T	0.19	.	8.7542	0.34635	0.2494:0.6295:0.1211:0.0	.	1466;1467;1466	B1AQK4;B1AQK7;B1AQK6	.;.;.	I	1466;1466;662;1466;1467;1467	ENSP00000360423:T1466I;ENSP00000277551:T1466I;ENSP00000277549:T662I;ENSP00000360414:T1466I;ENSP00000360408:T1467I;ENSP00000360406:T1467I	ENSP00000277549:T662I	T	+	2	0	CACNA1B	140072930	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	5.460000	0.66691	2.751000	0.94390	0.650000	0.86243	ACA		0.552	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		5	15	0	0	0	1	0	5	15				
MAN2B1	4125	broad.mit.edu	37	19	12760167	12760167	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12760167C>T	ENST00000456935.2	-	19	2383	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R	MAN2B1_ENST00000221363.4_Silent_p.R780R|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	781					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATGTAAATCCGGGTGTTGA	0.572																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2341-2343)cgG>cgA		mannosidase, alpha, class 2B, member 1							107.0	76.0	86.0					19																	12760167		2203	4300	6503	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12760167C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2343G>A	19.37:g.12760167C>T						MAN2B1_ENST00000221363.4_Silent_p.R780R	p.R781R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			19	2383	-			781					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.2343G>A	CCDS32919.1																																																																																				0.572	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			4	10	0	0	0	1	0	4	10				
FBXO7	25793	broad.mit.edu	37	22	32875191	32875191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32875191C>T	ENST00000266087.7	+	2	673	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	FBXO7_ENST00000397426.1_Nonsense_Mutation_p.Q2*|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Nonsense_Mutation_p.Q37*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	116	Important for interaction with PINK1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACTAGCATGCAGGATGAACA	0.448																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(346-348)Cag>Tag		F-box protein 7							92.0	91.0	91.0					22																	32875191		2203	4300	6503	SO:0001587	stop_gained	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32875191C>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.346C>T	22.37:g.32875191C>T	ENSP00000266087:p.Gln116*					FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Nonsense_Mutation_p.Q37*|FBXO7_ENST00000397426.1_Nonsense_Mutation_p.Q2*	p.Q116*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			2	673	+			116					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Nonsense_Mutation	SNP	ENST00000266087.7	37	c.346C>T	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263602	0.59431	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	4.53	3.48	0.39840	.	1.114660	0.06566	N	0.747646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-4.1968	12.2536	0.54611	0.0:0.8288:0.1712:0.0	.	.	.	.	X	116;37;37;2;2	.	ENSP00000266087:Q116X	Q	+	1	0	FBXO7	31205191	0.001000	0.12720	0.005000	0.12908	0.290000	0.27261	0.369000	0.20416	1.215000	0.43411	0.484000	0.47621	CAG		0.448	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			15	78	0	0	0	1	0	15	78				
C3orf67	200844	broad.mit.edu	37	3	58856000	58856000	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58856000T>G	ENST00000482387.1	-	4	472	c.376A>C	c.(376-378)Aac>Cac	p.N126H	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.N46H|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.N126H			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	126										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTTTTACTGTTCCGTGTAATA	0.383																																						ENST00000472469.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(136-138)Aac>Cac		chromosome 3 open reading frame 67							231.0	188.0	203.0					3																	58856000		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58856000T>G	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.376A>C	3.37:g.58856000T>G	ENSP00000417122:p.Asn126His					RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.N126H|C3orf67_ENST00000295966.7_Missense_Mutation_p.N126H|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA	p.N46H			Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	7	974	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	126					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.136A>C		.	.	.	.	.	.	.	.	.	.	T	13.64	2.297054	0.40694	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.47869	0.83;0.83;0.83	5.98	4.82	0.62117	.	0.617547	0.17567	N	0.169603	T	0.60011	0.2236	L	0.59436	1.845	0.28188	N	0.927861	D;D	0.71674	0.998;0.974	P;P	0.61592	0.891;0.73	T	0.56117	-0.8032	10	0.59425	D	0.04	-1.2834	10.65	0.45642	0.0:0.0723:0.0:0.9277	.	46;126	C9J3M8;Q6ZVT6-2	.;.	H	126;126;46	ENSP00000295966:N126H;ENSP00000417122:N126H;ENSP00000417271:N46H	ENSP00000295966:N126H	N	-	1	0	C3orf67	58831040	0.068000	0.21057	0.002000	0.10522	0.309000	0.27889	2.948000	0.49066	1.083000	0.41159	0.482000	0.46254	AAC		0.383	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		4	51	0	0	0	1	0	4	51				
SIMC1	375484	broad.mit.edu	37	5	175717181	175717181	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175717181C>A	ENST00000443967.1	+	4	1004	c.597C>A	c.(595-597)gcC>gcA	p.A199A	SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Silent_p.A218A			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	199	Pro-rich.						SUMO polymer binding (GO:0032184)										CACCACAGGCCTTGCCGTGCC	0.587																																						ENST00000443967.1																			0											c.(595-597)gcC>gcA		SUMO-interacting motifs containing 1							104.0	77.0	86.0					5																	175717181		2203	4299	6502	SO:0001819	synonymous_variant	375484							g.chr5:175717181C>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.597C>A	5.37:g.175717181C>A						SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Silent_p.A218A|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000503595.1_3'UTR	p.A199A							4	1004	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.597C>A																																																																																					0.587	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		5	13	1	0	0.184627	1	0.186383	5	13				
PSG7	5676	broad.mit.edu	37	19	43439811	43439811	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43439811G>A	ENST00000406070.2	-	0	271				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							145.0	152.0	150.0					19																	43439811		2201	4296	6497			5676				female pregnancy	extracellular region		g.chr19:43439811G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439811G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	264	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.448	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		76	118	0	0	0	1	0	76	118				
NELFCD	51497	broad.mit.edu	37	20	57568587	57568587	+	Silent	SNP	C	C	T	rs372330781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57568587C>T	ENST00000344018.3	+	12	1482	c.1455C>T	c.(1453-1455)gaC>gaT	p.D485D	NELFCD_ENST00000602795.1_Silent_p.D494D|NELFCD_ENST00000479207.1_3'UTR			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	485					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CCCAGCTGGACGTGATGGAGC	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20220	0.0		0.0	False		,,,				2504	0.0					ENST00000602795.1																			0											c.(1480-1482)gaC>gaT		negative elongation factor complex member C/D		C		0,4406		0,0,2203	65.0	59.0	61.0		1455	-8.0	0.5	20		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TH1L	NM_198976.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		485/591	57568587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51497							g.chr20:57568587C>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1455C>T	20.37:g.57568587C>T						NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Silent_p.D485D	p.D494D							12	1530	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.1482C>T																																																																																					0.592	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		15	24	0	0	0	1	0	15	24				
EXOC1	55763	broad.mit.edu	37	4	56770609	56770609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56770609T>C	ENST00000381295.2	+	19	2981	c.2633T>C	c.(2632-2634)tTc>tCc	p.F878S	EXOC1_ENST00000346134.7_Missense_Mutation_p.F878S|EXOC1_ENST00000349598.6_Missense_Mutation_p.F863S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	878					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAATGGAATTCACTATTCAG	0.398																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2632-2634)tTc>tCc		exocyst complex component 1							191.0	173.0	179.0					4																	56770609		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56770609T>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2633T>C	4.37:g.56770609T>C	ENSP00000370695:p.Phe878Ser					EXOC1_ENST00000346134.7_Missense_Mutation_p.F878S|EXOC1_ENST00000349598.6_Missense_Mutation_p.F863S	p.F878S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			19	2981	+	Glioma(25;0.08)|all_neural(26;0.101)		878					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2633T>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697191	0.88830	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.83816	0.0244	9	0.72032	D	0.01	.	15.1546	0.72730	0.0:0.0:0.0:1.0	.	863;878	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	S	878;878;863	.	ENSP00000326514:F878S	F	+	2	0	EXOC1	56465366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.972000	0.57404	0.460000	0.39030	TTC		0.398	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		39	45	0	0	0	1	0	39	45				
DPP3	10072	broad.mit.edu	37	11	66260289	66260289	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260289A>C	ENST00000360510.2	+	10	1156	c.1091A>C	c.(1090-1092)gAg>gCg	p.E364A	DPP3_ENST00000532677.1_Missense_Mutation_p.E383A|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.E384A|DPP3_ENST00000530165.1_Missense_Mutation_p.E334A|DPP3_ENST00000541961.1_Missense_Mutation_p.E364A|DPP3_ENST00000453114.1_Missense_Mutation_p.E364A			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	364					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAACCTTTGAGAAGGACAAG	0.592																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1147-1149)gAg>gCg		dipeptidyl-peptidase 3							90.0	89.0	89.0					11																	66260289		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260289A>C	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1091A>C	11.37:g.66260289A>C	ENSP00000353701:p.Glu364Ala					DPP3_ENST00000541961.1_Missense_Mutation_p.E364A|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.E364A|DPP3_ENST00000360510.2_Missense_Mutation_p.E364A|DPP3_ENST00000530165.1_Missense_Mutation_p.E334A|DPP3_ENST00000531863.1_Missense_Mutation_p.E384A	p.E383A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			10	1549	+			364					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1148A>C	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.858387	0.91433	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.74275	0.3695	M	0.91038	3.17	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80712	-0.1260	10	0.87932	D	0	.	13.4157	0.60968	1.0:0.0:0.0:0.0	.	383;364	G3V1D3;Q9NY33	.;DPP3_HUMAN	A	384;383;364;364;364;334;262	ENSP00000432782:E384A;ENSP00000435284:E383A;ENSP00000353701:E364A;ENSP00000389943:E364A;ENSP00000440502:E364A;ENSP00000436941:E334A	ENSP00000353701:E364A	E	+	2	0	DPP3	66016865	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.675000	0.74493	2.052000	0.61016	0.533000	0.62120	GAG		0.592	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			6	71	0	0	0	1	0	6	71				
GAS2L1	10634	broad.mit.edu	37	22	29704282	29704282	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29704282T>C	ENST00000406549.3	+	2	337	c.187T>C	c.(187-189)Tgc>Cgc	p.C63R	GAS2L1_ENST00000407647.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000407854.1_Missense_Mutation_p.C63R|GAS2L1_ENST00000403764.1_Missense_Mutation_p.C63R|GAS2L1_ENST00000471961.1_Missense_Mutation_p.C63R|GAS2L1_ENST00000341313.6_Missense_Mutation_p.C63R|GAS2L1_ENST00000360113.2_Missense_Mutation_p.C63R	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	63	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						CACGACCCTGTGCCAACATGC	0.692																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(187-189)Tgc>Cgc		growth arrest-specific 2 like 1							25.0	19.0	21.0					22																	29704282		2200	4295	6495	SO:0001583	missense	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29704282T>C	BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.187T>C	22.37:g.29704282T>C	ENSP00000383995:p.Cys63Arg					GAS2L1_ENST00000407647.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000407854.1_Missense_Mutation_p.C63R|GAS2L1_ENST00000406549.3_Missense_Mutation_p.C63R|GAS2L1_ENST00000341313.6_Missense_Mutation_p.C63R|GAS2L1_ENST00000360113.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000403764.1_Missense_Mutation_p.C63R	p.C63R			Q99501	GA2L1_HUMAN			1	1235	+			63			CH.		B5MCR7|Q53EN7|Q92640|Q9BUY9	Missense_Mutation	SNP	ENST00000406549.3	37	c.187T>C		.	.	.	.	.	.	.	.	.	.	T	26.8	4.774868	0.90108	.	.	ENSG00000185340	ENST00000407647;ENST00000416823;ENST00000428622;ENST00000333679;ENST00000406549;ENST00000360113;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	4.87	4.87	0.63330	Calponin homology domain (5);	0.201898	0.43747	D	0.000540	T	0.79287	0.4420	H	0.94385	3.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.85230	0.1032	10	0.87932	D	0	-21.9797	13.4409	0.61112	0.0:0.0:0.0:1.0	.	63;63;63;63	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	R	63	ENSP00000385554:C63R;ENSP00000395988:C63R;ENSP00000388645:C63R;ENSP00000383995:C63R;ENSP00000353229:C63R;ENSP00000344012:C63R;ENSP00000385358:C63R;ENSP00000450152:C63R;ENSP00000385023:C63R	ENSP00000332834:C63R	C	+	1	0	GAS2L1	28034282	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.893000	0.87330	1.819000	0.53055	0.402000	0.26972	TGC		0.692	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321365.1	NM_006478		5	6	0	0	0	1	0	5	6				
BRINP2	57795	broad.mit.edu	37	1	177247738	177247738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177247738G>A	ENST00000361539.4	+	7	1364	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	351					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CCCGATGACCGGTTCCTGAAC	0.567																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1051-1053)cGg>cAg									161.0	171.0	168.0					1																	177247738		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177247738G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1052G>A	1.37:g.177247738G>A	ENSP00000354481:p.Arg351Gln					FAM5B_ENST00000478325.1_3'UTR	p.R351Q	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1364	+			351					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1052G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519324	0.44866	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14022	2.54	5.39	5.39	0.77823	.	0.130851	0.51477	D	0.000084	T	0.19805	0.0476	L	0.38531	1.155	0.42251	D	0.991972	D;D;P	0.76494	0.999;0.962;0.787	P;P;B	0.57324	0.818;0.565;0.197	T	0.02282	-1.1183	10	0.19590	T	0.45	-22.9513	12.1539	0.54066	0.0788:0.0:0.9212:0.0	.	101;246;351	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	Q	101;351	ENSP00000354481:R351Q	ENSP00000354481:R351Q	R	+	2	0	FAM5B	175514361	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.176000	0.58269	2.528000	0.85240	0.655000	0.94253	CGG		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		100	133	0	0	0	1	0	100	133				
CAPN3	825	broad.mit.edu	37	15	42652026	42652026	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42652026C>A	ENST00000397163.3	+	1	242	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	CAPN3_ENST00000318023.7_Missense_Mutation_p.S8Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.S8Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.S8Y|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	8					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTAGCGCATCTGTGGCTCCA	0.552																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(22-24)tCt>tAt		calpain 3, (p94)							79.0	91.0	87.0					15																	42652026		2202	4298	6500	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42652026C>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.23C>A	15.37:g.42652026C>A	ENSP00000380349:p.Ser8Tyr					CAPN3_ENST00000349748.3_Missense_Mutation_p.S8Y|CAPN3_ENST00000356316.3_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Missense_Mutation_p.S8Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.S8Y	p.S8Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	1	242	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	8					A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.23C>A	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736630	0.30774	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.88664	-2.41;-2.41;-2.29;-2.41	5.95	5.03	0.67393	.	0.245825	0.34314	U	0.004070	D	0.83161	0.5194	N	0.14661	0.345	0.09310	N	1	P;P;P	0.50710	0.938;0.828;0.736	P;P;B	0.50896	0.653;0.555;0.352	T	0.76088	-0.3087	10	0.72032	D	0.01	.	7.1665	0.25693	0.1393:0.7153:0.0:0.1454	.	8;8;8	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	Y	8	ENSP00000380349:S8Y;ENSP00000350181:S8Y;ENSP00000183936:S8Y;ENSP00000326281:S8Y	ENSP00000326281:S8Y	S	+	2	0	CAPN3	40439318	0.000000	0.05858	0.229000	0.23960	0.524000	0.34500	0.952000	0.29149	1.509000	0.48786	0.563000	0.77884	TCT		0.552	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			10	154	1	0	0.0809354	1	0.0825713	10	154				
ZNF711	7552	broad.mit.edu	37	X	84520139	84520139	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84520139T>A	ENST00000373165.3	+	6	1100	c.794T>A	c.(793-795)gTc>gAc	p.V265D	ZNF711_ENST00000360700.4_Missense_Mutation_p.V265D|ZNF711_ENST00000542798.1_Missense_Mutation_p.V61D|ZNF711_ENST00000276123.3_Missense_Mutation_p.V265D|ZNF711_ENST00000395402.1_Missense_Mutation_p.V243D	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	265				IVT -> MSP (in Ref. 4; CAA39837). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGAAATTGTCACAGAGAGT	0.368																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(793-795)gTc>gAc		zinc finger protein 711							70.0	67.0	68.0					X																	84520139		2202	4300	6502	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84520139T>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.794T>A	X.37:g.84520139T>A	ENSP00000362260:p.Val265Asp					ZNF711_ENST00000373165.3_Missense_Mutation_p.V265D|ZNF711_ENST00000276123.3_Missense_Mutation_p.V265D|ZNF711_ENST00000542798.1_Missense_Mutation_p.V61D|ZNF711_ENST00000395402.1_Missense_Mutation_p.V243D	p.V265D			Q9Y462	ZN711_HUMAN			6	1680	+			265	IVT -> MSP (in Ref. 4; CAA39837).				B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.794T>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307807	0.81247	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.12	5.12	0.69794	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.36519	U	0.002547	T	0.69387	0.3105	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.85130	0.997;0.892	T	0.73011	-0.4117	10	0.87932	D	0	-4.3139	14.0176	0.64533	0.0:0.0:0.0:1.0	.	265;265	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	D	243;265;265;265;61	ENSP00000378798:V243D;ENSP00000362260:V265D;ENSP00000276123:V265D;ENSP00000353922:V265D;ENSP00000442071:V61D	ENSP00000276123:V265D	V	+	2	0	ZNF711	84406795	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.722000	0.68485	1.686000	0.51046	0.412000	0.27726	GTC		0.368	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		35	53	0	0	0	1	0	35	53				
DDX24	57062	broad.mit.edu	37	14	94528948	94528948	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94528948G>T	ENST00000330836.5	-	3	869	c.738C>A	c.(736-738)gcC>gcA	p.A246A	DDX24_ENST00000555054.1_Silent_p.A203A|DDX24_ENST00000544005.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	246	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGATGGCAAAGGCAAGAGTTT	0.423																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(736-738)gcC>gcA		DEAD (Asp-Glu-Ala-Asp) box helicase 24							72.0	70.0	71.0					14																	94528948		2203	4300	6503	SO:0001819	synonymous_variant	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528948G>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.738C>A	14.37:g.94528948G>T						DDX24_ENST00000544005.1_5'UTR|DDX24_ENST00000555054.1_Silent_p.A203A	p.A246A	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	869	-		all_cancers(154;0.12)	246			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	c.738C>A	CCDS9918.1																																																																																				0.423	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		8	66	1	0	4.68919e-08	1	5.58064e-08	8	66				
TTN	7273	broad.mit.edu	37	2	179528782	179528782	+	Intron	SNP	C	C	T	rs549147739		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528782C>T	ENST00000591111.1	-	154	34489				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.S12108S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGCACCACCGACACTTTCT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36322-36324)tcG>tcA		titin							122.0	118.0	119.0					2																	179528782		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528782C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5261G>A	2.37:g.179528782C>T						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.S12108S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		169	36548	-			10257			Ig-like 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.36324G>A		.	.	.	.	.	.	.	.	.	.	C	2.634	-0.285774	0.05605	.	.	ENSG00000155657	ENST00000425332	.	.	.	4.36	-6.17	0.02091	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	0.8348	0.01137	0.2924:0.1079:0.2049:0.3949	.	.	.	.	Q	172	.	.	R	-	2	0	TTN	179237027	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.671000	0.00843	-1.412000	0.02030	-0.136000	0.14681	CGG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	80	0	0	0	1	0	6	80				
MUC6	4588	broad.mit.edu	37	11	1024853	1024853	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1024853G>A	ENST00000421673.2	-	24	3266	c.3216C>T	c.(3214-3216)tgC>tgT	p.C1072C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1072	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGCTGTGGCAGGTGGCAA	0.672																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3214-3216)tgC>tgT		mucin 6, oligomeric mucus/gel-forming							17.0	21.0	20.0					11																	1024853		1953	4060	6013	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1024853G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3216C>T	11.37:g.1024853G>A							p.C1072C	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3266	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1072			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.3216C>T	CCDS44513.1																																																																																				0.672	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		13	15	0	0	0	1	0	13	15				
DUS2	54920	broad.mit.edu	37	16	68071995	68071995	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68071995G>A	ENST00000565263.1	+	3	563	c.69G>A	c.(67-69)ggG>ggA	p.G23G	DUS2_ENST00000358896.6_Silent_p.G23G|DUS2_ENST00000432752.1_Silent_p.G23G	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	23					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TTCGGGTAGGGACTCTTCCAA	0.468																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(67-69)ggG>ggA									145.0	128.0	133.0					16																	68071995		2198	4300	6498	SO:0001819	synonymous_variant	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68071995G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.69G>A	16.37:g.68071995G>A						DUS2L_ENST00000432752.1_Silent_p.G23G|DUS2L_ENST00000358896.6_Silent_p.G23G	p.G23G	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	3	563	+		Ovarian(137;0.192)	23					A8K3G3|Q4H4D9	Silent	SNP	ENST00000565263.1	37	c.69G>A	CCDS10859.1																																																																																				0.468	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		31	56	0	0	0	1	0	31	56				
GFRAL	389400	broad.mit.edu	37	6	55196545	55196545	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55196545T>C	ENST00000340465.2	+	2	141	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	19					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAATACACTTCCCAAACCAA	0.343																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(55-57)Tcc>Ccc		GDNF family receptor alpha like							103.0	96.0	99.0					6																	55196545		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55196545T>C	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.55T>C	6.37:g.55196545T>C	ENSP00000343636:p.Ser19Pro						p.S19P	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	141	+	Lung NSC(77;0.0875)|Renal(3;0.122)		19					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.55T>C	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722755	0.30503	.	.	ENSG00000187871	ENST00000340465	T	0.33438	1.41	4.91	3.68	0.42216	.	0.539313	0.18213	N	0.148103	T	0.26810	0.0656	L	0.59436	1.845	0.09310	N	1	D	0.62365	0.991	P	0.55871	0.786	T	0.02668	-1.1126	10	0.41790	T	0.15	-4.4008	9.2133	0.37331	0.0:0.0:0.1964:0.8036	.	19	Q6UXV0	GFRAL_HUMAN	P	19	ENSP00000343636:S19P	ENSP00000343636:S19P	S	+	1	0	GFRAL	55304504	0.071000	0.21146	0.357000	0.25798	0.109000	0.19521	0.824000	0.27379	1.849000	0.53698	0.377000	0.23210	TCC		0.343	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		6	51	0	0	0	1	0	6	51				
ZGRF1	55345	broad.mit.edu	37	4	113530535	113530535	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113530535C>A	ENST00000505019.1	-	8	2843	c.2718G>T	c.(2716-2718)caG>caT	p.Q906H	C4orf21_ENST00000309071.5_Splice_Site_p.Q906H	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		906						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATAACTTACCTGCACAGACT	0.383																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e8+1		chromosome 4 open reading frame 21							39.0	43.0	41.0					4																	113530535		2201	4298	6499	SO:0001630	splice_region_variant	55345							g.chr4:113530535C>A																												ENST00000505019.1:c.2718+1G>T	4.37:g.113530535C>A						C4orf21_ENST00000309071.5_Splice_Site_p.Q906_splice	p.Q906_splice	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	8	2843	-		Ovarian(17;0.156)	906					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Splice_Site	SNP	ENST00000505019.1	37	c.2718_splice		.	.	.	.	.	.	.	.	.	.	C	0.153	-1.088991	0.01873	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.82167	-1.58;1.91	3.66	0.0619	0.14342	.	1.130530	0.06761	N	0.781815	D	0.85004	0.5598	L	0.60455	1.87	0.26544	N	0.974028	D;D	0.65815	0.995;0.987	P;P	0.58454	0.839;0.823	T	0.70641	-0.4816	9	.	.	.	2.4798	3.8901	0.09114	0.0:0.5417:0.1993:0.259	.	906;906	Q86YA3;G5EA02	CD021_HUMAN;.	H	906	ENSP00000424737:Q906H;ENSP00000309095:Q906H	.	Q	-	3	2	C4orf21	113749984	0.265000	0.24102	0.133000	0.22050	0.434000	0.31775	-0.032000	0.12266	-0.034000	0.13713	0.557000	0.71058	CAG		0.383	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		Missense_Mutation	7	30	1	0	5.68852e-11	1	7.05143e-11	7	30				
WDR36	134430	broad.mit.edu	37	5	110448783	110448783	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110448783C>A	ENST00000513710.2	+	16	1899	c.1895C>A	c.(1894-1896)cCt>cAt	p.P632H	WDR36_ENST00000506538.2_Missense_Mutation_p.P632H			Q8NI36	WDR36_HUMAN	WD repeat domain 36	632					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTTTTAGTCCTGATGGTCGT	0.274																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1894-1896)cCt>cAt		WD repeat domain 36							122.0	115.0	117.0					5																	110448783		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110448783C>A	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1895C>A	5.37:g.110448783C>A	ENSP00000424628:p.Pro632His					WDR36_ENST00000513710.2_Missense_Mutation_p.P632H	p.P632H	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	16	2468	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	632					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1895C>A	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796390	0.90453	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.70516	-0.49;-0.49	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89578	0.3818	10	0.87932	D	0	-24.0307	20.6397	0.99537	0.0:1.0:0.0:0.0	.	632	Q8NI36	WDR36_HUMAN	H	632	ENSP00000423067:P632H;ENSP00000424628:P632H	ENSP00000423067:P632H	P	+	2	0	WDR36	110476682	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.878000	0.69682	2.880000	0.98712	0.650000	0.86243	CCT		0.274	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		9	60	1	0	0.00448238	1	0.00472561	9	60				
VIM	7431	broad.mit.edu	37	10	17277273	17277273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277273A>G	ENST00000224237.5	+	6	1259	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	VIM_ENST00000544301.1_Missense_Mutation_p.M372V|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	372	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTCAGAATATGAAGGAGGA	0.493																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1114-1116)Atg>Gtg		vimentin							146.0	131.0	136.0					10																	17277273		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277273A>G	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1114A>G	10.37:g.17277273A>G	ENSP00000224237:p.Met372Val					VIM_ENST00000224237.5_Missense_Mutation_p.M372V	p.M372V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1527	+			372			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1114A>G	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429920	0.62844	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.87729	-2.29;-2.29	5.87	5.87	0.94306	Filament (1);	0.117204	0.38326	N	0.001738	D	0.85570	0.5727	L	0.45422	1.42	0.58432	D	0.999998	B;B;B;B	0.33549	0.079;0.133;0.417;0.079	B;B;B;B	0.39935	0.217;0.138;0.314;0.217	D	0.83697	0.0180	10	0.34782	T	0.22	.	16.3222	0.82954	1.0:0.0:0.0:0.0	.	372;359;372;372	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	V	372;372;359	ENSP00000446007:M372V;ENSP00000224237:M372V	ENSP00000224237:M372V	M	+	1	0	VIM	17317279	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.298000	0.78815	2.246000	0.74042	0.519000	0.50382	ATG		0.493	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		17	52	0	0	0	1	0	17	52				
RAI2	10742	broad.mit.edu	37	X	17819072	17819072	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17819072G>A	ENST00000545871.1	-	3	1519	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RAI2_ENST00000360011.1_Silent_p.S353S|RAI2_ENST00000331511.1_Silent_p.S353S|RAI2_ENST00000451717.1_Silent_p.S353S|RAI2_ENST00000415486.3_Silent_p.S303S	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	353					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGAGGCTCGGATTTCCGGT	0.547																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1057-1059)tcC>tcT		retinoic acid induced 2							62.0	59.0	60.0					X																	17819072		2203	4300	6503	SO:0001819	synonymous_variant	10742				embryo development			g.chrX:17819072G>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1059C>T	X.37:g.17819072G>A						RAI2_ENST00000331511.1_Silent_p.S353S|RAI2_ENST00000360011.1_Silent_p.S353S|RAI2_ENST00000451717.1_Silent_p.S353S|RAI2_ENST00000415486.3_Silent_p.S303S	p.S353S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	1519	-	Hepatocellular(33;0.183)		353					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	ENST00000545871.1	37	c.1059C>T	CCDS14183.1																																																																																				0.547	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		27	46	0	0	0	1	0	27	46				
ZFPM1	161882	broad.mit.edu	37	16	88598606	88598606	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88598606C>T	ENST00000319555.3	+	7	1231	c.909C>T	c.(907-909)agC>agT	p.S303S	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	303					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCTGCCCCAGCGCCAGCTCCC	0.716																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(907-909)agC>agT		zinc finger protein, FOG family member 1							31.0	29.0	30.0					16																	88598606		2198	4297	6495	SO:0001819	synonymous_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88598606C>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.909C>T	16.37:g.88598606C>T							p.S303S	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	1231	+			303						Silent	SNP	ENST00000319555.3	37	c.909C>T	CCDS32502.1																																																																																				0.716	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			16	18	0	0	0	1	0	16	18				
SP110	3431	broad.mit.edu	37	2	231067397	231067397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231067397C>T	ENST00000358662.4	-	9	1024	c.946G>A	c.(946-948)Gat>Aat	p.D316N	SP110_ENST00000258381.6_Missense_Mutation_p.D316N|SP110_ENST00000258382.5_Missense_Mutation_p.D316N|SP110_ENST00000338556.3_Intron|SP110_ENST00000540870.1_Missense_Mutation_p.D322N|SP110_ENST00000392048.3_Missense_Mutation_p.D314N|SP110_ENST00000486146.2_5'Flank	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	316					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGAACCTGATCCACCCTTTTG	0.453																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(946-948)Gat>Aat		SP110 nuclear body protein							215.0	198.0	204.0					2																	231067397		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231067397C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.946G>A	2.37:g.231067397C>T	ENSP00000351488:p.Asp316Asn					SP110_ENST00000338556.3_Intron|SP110_ENST00000258382.5_Missense_Mutation_p.D316N|SP110_ENST00000392048.3_Missense_Mutation_p.D314N|SP110_ENST00000358662.4_Missense_Mutation_p.D316N|SP110_ENST00000540870.1_Missense_Mutation_p.D322N	p.D316N	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	9	1023	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	316					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.946G>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701153	0.48307	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870	T;T;T;T;T	0.67345	0.97;0.9;-0.13;-0.19;-0.26	3.72	-0.365	0.12549	.	.	.	.	.	T	0.67878	0.2940	L	0.39898	1.24	0.09310	N	0.999999	B;B;D;D	0.76494	0.089;0.089;0.998;0.999	B;B;P;D	0.69479	0.042;0.042;0.878;0.964	T	0.55560	-0.8122	9	0.59425	D	0.04	.	4.0064	0.09603	0.0:0.5102:0.1787:0.3112	.	314;322;316;316	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	N	316;316;314;316;322	ENSP00000258381:D316N;ENSP00000351488:D316N;ENSP00000375902:D314N;ENSP00000258382:D316N;ENSP00000439558:D322N	ENSP00000258381:D316N	D	-	1	0	SP110	230775641	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.072000	0.11486	-0.077000	0.12752	0.563000	0.77884	GAT		0.453	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		41	100	0	0	0	1	0	41	100				
NDUFA10	4705	broad.mit.edu	37	2	240961658	240961658	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240961658C>G	ENST00000252711.2	-	2	275	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L	NDUFA10_ENST00000307300.4_Missense_Mutation_p.V59L|NDUFA10_ENST00000407129.3_Missense_Mutation_p.V59L|NDUFA10_ENST00000404554.1_Missense_Mutation_p.V59L	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	59					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		ACAGTTATCACTCTGCTGCGT	0.403																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(175-177)Gtg>Ctg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						179.0	159.0	166.0					2																	240961658		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240961658C>G	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.175G>C	2.37:g.240961658C>G	ENSP00000252711:p.Val59Leu					NDUFA10_ENST00000404554.1_Missense_Mutation_p.V59L|NDUFA10_ENST00000407129.3_Missense_Mutation_p.V59L|NDUFA10_ENST00000307300.4_Missense_Mutation_p.V59L	p.V59L	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	2	275	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	59					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.175G>C	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	7.585	0.669515	0.14776	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	4.54	2.64	0.31445	.	0.112402	0.56097	N	0.000024	D	0.91026	0.7177	M	0.62209	1.925	0.38898	D	0.95726	B;B;B;B	0.20988	0.05;0.013;0.008;0.019	B;B;B;B	0.23574	0.047;0.019;0.007;0.012	D	0.87631	0.2516	10	0.52906	T	0.07	-30.5014	11.348	0.49571	0.0:0.6451:0.3549:0.0	.	59;59;64;59	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	L	59	ENSP00000252711:V59L;ENSP00000385697:V59L;ENSP00000411527:V59L;ENSP00000302321:V59L;ENSP00000383975:V59L	ENSP00000252711:V59L	V	-	1	0	NDUFA10	240610331	0.999000	0.42202	0.595000	0.28798	0.191000	0.23601	0.919000	0.28692	0.575000	0.29434	0.467000	0.42956	GTG		0.403	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		30	48	0	0	0	1	0	30	48				
MED4	29079	broad.mit.edu	37	13	48651342	48651342	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48651342T>G	ENST00000258648.2	-	7	771	c.746A>C	c.(745-747)aAa>aCa	p.K249T	MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR|MED4_ENST00000378586.1_Missense_Mutation_p.K203T	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	249					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TTCATTTTCTTTATTATGCCC	0.368																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(745-747)aAa>aCa		mediator complex subunit 4							122.0	116.0	118.0					13																	48651342		2203	4300	6503	SO:0001583	missense	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48651342T>G	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.746A>C	13.37:g.48651342T>G	ENSP00000258648:p.Lys249Thr					MED4_ENST00000378586.1_Missense_Mutation_p.K203T|MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA	p.K249T	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	7	771	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	249					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.746A>C	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297761	0.81025	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	L	0.53249	1.67	0.80722	D	1	P;B	0.43094	0.799;0.319	B;B	0.38378	0.272;0.071	T	0.61222	-0.7106	9	0.72032	D	0.01	-24.7085	15.1809	0.72956	0.0:0.0:0.0:1.0	.	227;249	E9PDW1;Q9NPJ6	.;MED4_HUMAN	T	249;227;203;227	.	ENSP00000258648:K249T	K	-	2	0	MED4	47549343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.600000	0.82769	2.187000	0.69744	0.482000	0.46254	AAA		0.368	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		10	60	0	0	0	1	0	10	60				
ECT2	1894	broad.mit.edu	37	3	172482124	172482124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482124C>T	ENST00000392692.3	+	12	1301	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	ECT2_ENST00000417960.1_Silent_p.N343N|ECT2_ENST00000441497.2_Silent_p.N344N|ECT2_ENST00000232458.5_Silent_p.N344N|ECT2_ENST00000427830.1_Silent_p.N344N|ECT2_ENST00000540509.1_Silent_p.N375N	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	375					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATACCCCTAACAGCAATCGCA	0.443																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1027-1029)aaC>aaT		epithelial cell transforming sequence 2 oncogene							96.0	87.0	90.0					3																	172482124		2203	4300	6503	SO:0001819	synonymous_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172482124C>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1125C>T	3.37:g.172482124C>T						ECT2_ENST00000441497.2_Silent_p.N344N|ECT2_ENST00000392692.3_Silent_p.N375N|ECT2_ENST00000232458.5_Silent_p.N344N|ECT2_ENST00000540509.1_Silent_p.N375N|ECT2_ENST00000427830.1_Silent_p.N344N	p.N343N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		12	1506	+	Ovarian(172;0.00197)|Breast(254;0.158)		344					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	ENST00000392692.3	37	c.1029C>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169611	0.21621	.	.	ENSG00000114346	ENST00000444250	.	.	.	5.34	1.4	0.22301	.	.	.	.	.	T	0.57359	0.2048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49916	-0.8888	4	.	.	.	-18.4562	8.9144	0.35572	0.0:0.6102:0.0:0.3898	.	.	.	.	I	47	.	.	T	+	2	0	ECT2	173964818	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.792000	0.26929	0.209000	0.20645	0.655000	0.94253	ACA		0.443	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		23	30	0	0	0	1	0	23	30				
ITPR3	3710	broad.mit.edu	37	6	33653203	33653203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33653203G>A	ENST00000374316.5	+	41	6435	c.5375G>A	c.(5374-5376)cGc>cAc	p.R1792H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1792H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1792					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTGCACGACCGCATGAAGCGG	0.587																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5374-5376)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							56.0	55.0	55.0					6																	33653203		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33653203G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5375G>A	6.37:g.33653203G>A	ENSP00000363435:p.Arg1792His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R1792H	p.R1792H			Q14573	ITPR3_HUMAN			41	6435	+			1792					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5375G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221934	0.79464	.	.	ENSG00000096433	ENST00000374316	D	0.91631	-2.88	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	M	0.85945	2.785	0.80722	D	1	P	0.43826	0.818	B	0.36289	0.221	D	0.92801	0.6256	10	0.72032	D	0.01	-29.4465	18.6148	0.91299	0.0:0.0:1.0:0.0	.	1792	Q14573	ITPR3_HUMAN	H	1792	ENSP00000363435:R1792H	ENSP00000363435:R1792H	R	+	2	0	ITPR3	33761181	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.869000	0.99810	2.403000	0.81681	0.313000	0.20887	CGC		0.587	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	14	0	0	0	1	0	6	14				
MUC17	140453	broad.mit.edu	37	7	100684913	100684913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684913G>A	ENST00000306151.4	+	3	10280	c.10216G>A	c.(10216-10218)Gtc>Atc	p.V3406I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3406	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTATGCCTGTCAGCACCAC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10216-10218)Gtc>Atc		mucin 17, cell surface associated							281.0	287.0	285.0					7																	100684913		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684913G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10216G>A	7.37:g.100684913G>A	ENSP00000302716:p.Val3406Ile						p.V3406I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10280	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3406			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10216G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	6.175	0.400400	0.11696	.	.	ENSG00000169876	ENST00000306151	T	0.02812	4.15	1.38	-1.15	0.09709	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	D	0.55605	0.972	D	0.63381	0.914	T	0.38607	-0.9653	9	0.30854	T	0.27	.	2.1337	0.03756	0.2156:0.0:0.4846:0.2998	.	3406	Q685J3	MUC17_HUMAN	I	3406	ENSP00000302716:V3406I	ENSP00000302716:V3406I	V	+	1	0	MUC17	100471633	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.513000	0.06305	-0.706000	0.05028	-1.135000	0.01939	GTC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		38	370	0	0	0	1	0	38	370				
ITPR2	3709	broad.mit.edu	37	12	26818923	26818923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26818923G>A	ENST00000381340.3	-	14	1887	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	491					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGAACTTCTTGTCCATTATTA	0.348																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1471-1473)Caa>Taa		inositol 1,4,5-trisphosphate receptor, type 2							101.0	91.0	94.0					12																	26818923		1835	4102	5937	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26818923G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1471C>T	12.37:g.26818923G>A	ENSP00000370744:p.Gln491*						p.Q491*	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			14	1887	-	Colorectal(261;0.0847)		491					O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.1471C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	44	10.545415	0.99425	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.0749	0.93156	0.0:0.0:1.0:0.0	.	.	.	.	X	491	.	ENSP00000370744:Q491X	Q	-	1	0	ITPR2	26710190	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.721000	0.84768	2.716000	0.92895	0.591000	0.81541	CAA		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	49	0	0	0	1	0	4	49				
C4B	721	broad.mit.edu	37	6	31996282	31996282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31996282C>T	ENST00000435363.2	+	25	3287	c.3203C>T	c.(3202-3204)gCt>gTt	p.A1068V	C4B_ENST00000425700.2_Missense_Mutation_p.A1068V	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1068					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TCCTATGCGGCTTGGTTGTCA	0.612																																						ENST00000435363.2																			0											c.(3202-3204)gCt>gTt		complement component 4B (Chido blood group)							69.0	55.0	60.0					6																	31996282		2166	4194	6360	SO:0001583	missense	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31996282C>T	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3203C>T	6.37:g.31996282C>T	ENSP00000415941:p.Ala1068Val					C4B_ENST00000425700.2_Missense_Mutation_p.A1068V	p.A1068V	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN			25	3287	+			1068					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	c.3203C>T	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470623	0.63625	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.15017	2.46;2.46	4.65	4.65	0.58169	.	0.192414	0.43579	D	0.000541	T	0.30541	0.0768	M	0.75447	2.3	0.46798	D	0.999203	D;D	0.89917	0.996;1.0	D;D	0.85130	0.959;0.997	T	0.03017	-1.1082	10	0.41790	T	0.15	.	13.0711	0.59061	0.0:1.0:0.0:0.0	.	1068;1068	F5GXS0;Q6U2E9	.;.	V	1068	ENSP00000415941:A1068V;ENSP00000391933:A1068V	ENSP00000391933:A1068V	A	+	2	0	C4B	32104260	0.995000	0.38212	0.974000	0.42286	0.285000	0.27093	4.332000	0.59279	2.135000	0.66039	0.558000	0.71614	GCT		0.612	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		17	41	0	0	0	1	0	17	41				
XIAP	331	broad.mit.edu	37	X	123019851	123019851	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123019851T>C	ENST00000371199.3	+	2	638	c.339T>C	c.(337-339)ggT>ggC	p.G113G	XIAP_ENST00000434753.3_Silent_p.G113G|XIAP_ENST00000355640.3_Silent_p.G113G|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	113					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TCCAGAATGGTCAGTACAAAG	0.418									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(337-339)ggT>ggC		X-linked inhibitor of apoptosis							81.0	80.0	80.0					X																	123019851		2203	4300	6503	SO:0001819	synonymous_variant	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019851T>C	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.339T>C	X.37:g.123019851T>C						XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Silent_p.G113G|XIAP_ENST00000355640.3_Silent_p.G113G	p.G113G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	638	+			113					D3DTF2|Q9NQ14	Silent	SNP	ENST00000371199.3	37	c.339T>C	CCDS14606.1																																																																																				0.418	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		52	75	0	0	0	1	0	52	75				
TPD52L1	7164	broad.mit.edu	37	6	125584090	125584090	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125584090G>A	ENST00000534000.1	+	7	893	c.597G>A	c.(595-597)gaG>gaA	p.E199E	TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000532429.1_Silent_p.E170E|TPD52L1_ENST00000527711.1_Silent_p.E186E|TPD52L1_ENST00000304877.13_Silent_p.E204E|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000528193.1_3'UTR|HDDC2_ENST00000608456.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	199					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GGACCAAGGAGGAGGAGCTGC	0.607																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(595-597)gaG>gaA		tumor protein D52-like 1							29.0	28.0	28.0					6																	125584090		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125584090G>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.597G>A	6.37:g.125584090G>A						TPD52L1_ENST00000532429.1_Silent_p.E170E|TPD52L1_ENST00000527711.1_Silent_p.E186E|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.E204E|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000392482.2_3'UTR	p.E199E	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	7	893	+			199					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	ENST00000534000.1	37	c.597G>A	CCDS5130.1																																																																																				0.607	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			7	14	0	0	0	1	0	7	14				
PMS2	5395	broad.mit.edu	37	7	6026903	6026903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6026903C>A	ENST00000265849.7	-	11	1598	c.1493G>T	c.(1492-1494)aGc>aTc	p.S498I	PMS2_ENST00000441476.2_Missense_Mutation_p.S392I|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S498I|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	498					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CACGGAAGTGCTGCCGTGCCC	0.627			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1492-1494)aGc>aTc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							62.0	64.0	64.0					7																	6026903		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026903C>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1493G>T	7.37:g.6026903C>A	ENSP00000265849:p.Ser498Ile					PMS2_ENST00000441476.2_Missense_Mutation_p.S392I|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S498I|PMS2_ENST00000469652.1_Intron	p.S498I	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1598	-		Ovarian(82;0.0694)	498					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1493G>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.647368	0.67358	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.88586	1.0;1.0;-2.4	5.95	5.08	0.68730	.	0.915183	0.09372	N	0.811116	D	0.91845	0.7419	L	0.53249	1.67	0.29772	N	0.834661	D;P;D	0.57571	0.98;0.952;0.967	P;P;P	0.56700	0.804;0.472;0.73	D	0.85458	0.1165	10	0.35671	T	0.21	-4.7769	15.3662	0.74523	0.0:0.9334:0.0:0.0666	.	498;498;392	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	I	498;451;392;498	ENSP00000265849:S498I;ENSP00000392843:S392I;ENSP00000384308:S498I	ENSP00000265849:S498I	S	-	2	0	PMS2	5993429	0.903000	0.30736	0.174000	0.22961	0.095000	0.18619	2.412000	0.44609	1.536000	0.49237	0.650000	0.86243	AGC		0.627	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		7	102	1	0	8.12818e-05	1	8.99451e-05	7	102				
XIRP1	165904	broad.mit.edu	37	3	39227602	39227602	+	Missense_Mutation	SNP	C	C	T	rs201476562		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227602C>T	ENST00000340369.3	-	2	3563	c.3335G>A	c.(3334-3336)cGg>cAg	p.R1112Q	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R1112Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1112					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTGGGATCCGGGGATCACT	0.612																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3334-3336)cGg>cAg		xin actin-binding repeat containing 1							62.0	66.0	65.0					3																	39227602		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39227602C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3335G>A	3.37:g.39227602C>T	ENSP00000343140:p.Arg1112Gln					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R1112Q	p.R1112Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3563	-			1112					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3335G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447059	0.63178	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.06294	3.32;3.9	4.69	3.82	0.43975	.	0.557925	0.17321	U	0.178481	T	0.05410	0.0143	L	0.43152	1.355	0.80722	D	1	P;P	0.47253	0.892;0.812	B;B	0.38428	0.273;0.165	T	0.47849	-0.9085	10	0.29301	T	0.29	.	6.6497	0.22955	0.0:0.7228:0.181:0.0961	.	1112;1112	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Q	1112	ENSP00000379550:R1112Q;ENSP00000343140:R1112Q	ENSP00000343140:R1112Q	R	-	2	0	XIRP1	39202606	0.613000	0.27009	1.000000	0.80357	0.924000	0.55760	1.270000	0.33086	1.353000	0.45828	0.655000	0.94253	CGG		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		23	41	0	0	0	1	0	23	41				
TRAV41	28640	broad.mit.edu	37	14	22788839	22788839	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22788839G>T	ENST00000390468.1	+	0	52									T cell receptor alpha variable 41																		TTTGAGAACAGGTGTAAGTGC	0.403																																						ENST00000390468.1																			0																				31.0	32.0	32.0					14																	22788839		1860	4101	5961			0							g.chr14:22788839G>T	AE000661		14q11.2	2012-02-07			ENSG00000211820	ENSG00000211820		"""T cell receptors / TRA locus"""	12142	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV19S1, TCRAV41S1			OTTHUMG00000170841		14.37:g.22788839G>T														0	52	+									RNA	SNP	ENST00000390468.1	37																																																																																						0.403	TRAV41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410667.1	NG_001332		10	14	1	0	1.58986e-06	1	1.84011e-06	10	14				
ARID1A	8289	broad.mit.edu	37	1	27059251	27059251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27059251C>A	ENST00000324856.7	+	4	2259	c.1888C>A	c.(1888-1890)Ctg>Atg	p.L630M	ARID1A_ENST00000457599.2_Missense_Mutation_p.L630M|ARID1A_ENST00000374152.2_Missense_Mutation_p.L247M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	630					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGATATGAACCTGAGCCTTCA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1888-1890)Ctg>Atg		AT rich interactive domain 1A (SWI-like)							133.0	124.0	127.0					1																	27059251		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059251C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1888C>A	1.37:g.27059251C>A	ENSP00000320485:p.Leu630Met					ARID1A_ENST00000457599.2_Missense_Mutation_p.L630M|ARID1A_ENST00000374152.2_Missense_Mutation_p.L247M	p.L630M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2259	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	630					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1888C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828799	0.32329	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03772	3.85;3.81;3.88	5.7	2.43	0.29744	.	0.110527	0.38837	N	0.001560	T	0.02571	0.0078	N	0.14661	0.345	0.80722	D	1	B;P;B	0.36392	0.416;0.551;0.416	B;B;B	0.34779	0.092;0.189;0.092	T	0.59931	-0.7361	10	0.31617	T	0.26	-7.6471	4.3234	0.11029	0.1494:0.4112:0.0:0.4394	.	630;630;284	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	M	630;630;247	ENSP00000320485:L630M;ENSP00000387636:L630M;ENSP00000363267:L247M	ENSP00000320485:L630M	L	+	1	2	ARID1A	26931838	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.329000	0.19698	0.190000	0.20209	0.491000	0.48974	CTG		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		5	89	1	0	0.00116845	1	0.00124821	5	89				
SCAF4	57466	broad.mit.edu	37	21	33074144	33074144	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33074144C>T	ENST00000286835.7	-	6	927	c.545G>A	c.(544-546)aGc>aAc	p.S182N	SCAF4_ENST00000399804.1_Missense_Mutation_p.S182N|SCAF4_ENST00000434667.3_Missense_Mutation_p.S167N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	182						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCATCAGAGCTGGGCAACTG	0.473																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(544-546)aGc>aAc		SR-related CTD-associated factor 4							96.0	93.0	94.0					21																	33074144		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33074144C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.545G>A	21.37:g.33074144C>T	ENSP00000286835:p.Ser182Asn					SCAF4_ENST00000399804.1_Missense_Mutation_p.S182N|SCAF4_ENST00000434667.3_Missense_Mutation_p.S167N	p.S182N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			6	927	-			182					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.545G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785584	0.31593	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.44482	0.94;0.92;0.92	6.06	6.06	0.98353	.	0.045336	0.85682	D	0.000000	T	0.31918	0.0812	L	0.29908	0.895	0.39364	D	0.965962	B;B;B;B	0.23990	0.057;0.029;0.095;0.057	B;B;B;B	0.24006	0.041;0.012;0.05;0.041	T	0.12344	-1.0551	10	0.12103	T	0.63	-13.3541	16.0477	0.80731	0.0:0.8667:0.1333:0.0	.	167;182;182;182	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	N	167;182;182	ENSP00000402377:S167N;ENSP00000286835:S182N;ENSP00000382703:S182N	ENSP00000286835:S182N	S	-	2	0	SCAF4	31996015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.230000	0.51286	2.880000	0.98712	0.650000	0.86243	AGC		0.473	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		27	36	0	0	0	1	0	27	36				
TRIM42	287015	broad.mit.edu	37	3	140409860	140409860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140409860C>T	ENST00000286349.3	+	4	2102	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	637	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATGGAATTCTATGAAGTCA	0.433																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1909-1911)ttC>ttT		tripartite motif containing 42							149.0	137.0	141.0					3																	140409860		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140409860C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1911C>T	3.37:g.140409860C>T							p.F637F	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			4	2102	+			637			Fibronectin type-III.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1911C>T	CCDS3113.1																																																																																				0.433	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		36	64	0	0	0	1	0	36	64				
TOMM20L	387990	broad.mit.edu	37	14	58869412	58869412	+	Silent	SNP	G	G	A	rs529617355	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58869412G>A	ENST00000360945.2	+	3	237	c.195G>A	c.(193-195)acG>acA	p.T65T	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	65					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						GGGATCCAACGAAGAATAAAA	0.308													G|||	2	0.000399361	0.0	0.0	5008	,	,		18487	0.0		0.0	False		,,,				2504	0.002					ENST00000360945.2																			0				large_intestine(2)|lung(2)	4						c.(193-195)acG>acA		translocase of outer mitochondrial membrane 20 homolog (yeast)-like							114.0	130.0	124.0					14																	58869412		2203	4300	6503	SO:0001819	synonymous_variant	387990				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		g.chr14:58869412G>A		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type I"""					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.195G>A	14.37:g.58869412G>A						RP11-517O13.1_ENST00000556734.1_RNA	p.T65T	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN			3	237	+			65					B2RPR0	Silent	SNP	ENST00000360945.2	37	c.195G>A	CCDS9734.1																																																																																				0.308	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		38	77	0	0	0	1	0	38	77				
EPC2	26122	broad.mit.edu	37	2	149543884	149543884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149543884G>A	ENST00000258484.6	+	14	2396	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	788					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGAGAACCACGAACCAGAAAG	0.373																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(2362-2364)Gaa>Aaa		enhancer of polycomb homolog 2 (Drosophila)							110.0	107.0	108.0					2																	149543884		1948	4140	6088	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149543884G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.2362G>A	2.37:g.149543884G>A	ENSP00000258484:p.Glu788Lys						p.E788K	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	14	2396	+			788					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.2362G>A	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476951	0.63849	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	L	0.53249	1.67	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	T	0.77256	-0.2655	9	0.72032	D	0.01	.	20.0981	0.97857	0.0:0.0:1.0:0.0	.	788	Q52LR7	EPC2_HUMAN	K	788	.	ENSP00000258484:E788K	E	+	1	0	EPC2	149260354	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.022000	0.88759	2.831000	0.97527	0.561000	0.74099	GAA		0.373	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		5	9	0	0	0	1	0	5	9				
MBD3	53615	broad.mit.edu	37	19	1578393	1578393	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1578393G>A	ENST00000434436.3	-	6	951	c.822C>T	c.(820-822)gaC>gaT	p.D274D	MBD3_ENST00000590550.2_Silent_p.D218D|MBD3_ENST00000156825.1_Silent_p.D274D|MBD3_ENST00000585967.1_5'Flank|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000592012.1_Silent_p.D242D|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	274	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		cctcctcctcgtcttcctcgt	0.716																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(652-654)gaC>gaT		methyl-CpG binding domain protein 3							26.0	27.0	27.0					19																	1578393		2202	4300	6502	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578393G>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.822C>T	19.37:g.1578393G>A						MBD3_ENST00000156825.1_Silent_p.D274D|MBD3_ENST00000592012.1_Silent_p.D242D|MBD3_ENST00000434436.3_Silent_p.D274D	p.D218D			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1027	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	274					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.654C>T	CCDS12072.1																																																																																				0.716	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		9	18	0	0	0	1	0	9	18				
ZNF280B	140883	broad.mit.edu	37	22	22842384	22842384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22842384T>C	ENST00000406426.1	-	4	2082	c.1340A>G	c.(1339-1341)tAc>tGc	p.Y447C	ZNF280B_ENST00000360412.2_Missense_Mutation_p.Y447C			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGACACATGTATGGTGTTGC	0.413																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1339-1341)tAc>tGc		zinc finger protein 280B							104.0	101.0	102.0					22																	22842384		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842384T>C	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1340A>G	22.37:g.22842384T>C	ENSP00000385998:p.Tyr447Cys					ZNF280B_ENST00000406426.1_Missense_Mutation_p.Y447C	p.Y447C	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	2115	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	447						Missense_Mutation	SNP	ENST00000406426.1	37	c.1340A>G	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288421	0.59976	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.60672	0.17;0.17	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.69913	0.3164	L	0.55017	1.72	0.37275	D	0.907575	D	0.89917	1.0	D	0.75020	0.985	T	0.76435	-0.2960	9	0.87932	D	0	-15.6218	12.726	0.57170	0.0:0.0:0.0:1.0	.	447	Q86YH2	Z280B_HUMAN	C	447	ENSP00000385998:Y447C;ENSP00000353586:Y447C	ENSP00000353586:Y447C	Y	-	2	0	ZNF280B	21172384	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.229000	0.65316	2.172000	0.68678	0.533000	0.62120	TAC		0.413	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		52	75	0	0	0	1	0	52	75				
GPHN	10243	broad.mit.edu	37	14	67646313	67646313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67646313C>T	ENST00000315266.5	+	21	3120	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F	GPHN_ENST00000478722.1_Missense_Mutation_p.L700F|GPHN_ENST00000305960.9_Missense_Mutation_p.L636F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.L713F	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	667	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGATGTAAAACTTGATCCTCG	0.393			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(2098-2100)Ctt>Ttt		gephyrin							153.0	121.0	132.0					14																	67646313		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67646313C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1999C>T	14.37:g.67646313C>T	ENSP00000312771:p.Leu667Phe					GPHN_ENST00000543237.1_Missense_Mutation_p.L713F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.L636F|GPHN_ENST00000315266.5_Missense_Mutation_p.L667F	p.L700F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	22	3219	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	667			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.2098C>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443613	0.63067	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.79	3.96	0.45880	MoeA, C-terminal, domain IV (3);	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	M	0.77313	2.365	0.80722	D	1	D;P;D;P	0.57571	0.975;0.936;0.98;0.948	P;P;D;P	0.63192	0.858;0.68;0.912;0.724	T	0.75833	-0.3178	9	0.51188	T	0.08	-3.4678	9.8739	0.41191	0.0:0.751:0.0:0.249	.	636;713;667;700	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	F	667;700;713;636	.	ENSP00000303019:L636F	L	+	1	0	GPHN	66716066	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.441000	0.35035	1.456000	0.47831	-0.140000	0.14226	CTT		0.393	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		21	36	0	0	0	1	0	21	36				
SEC24C	9632	broad.mit.edu	37	10	75525889	75525889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525889G>A	ENST00000339365.2	+	12	1690	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	SEC24C_ENST00000411652.2_Missense_Mutation_p.V391I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.V510I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	510					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CATGATTGACGTCTCCTACAA	0.488																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1528-1530)Gtc>Atc		SEC24 family member C							142.0	143.0	142.0					10																	75525889		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525889G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1528G>A	10.37:g.75525889G>A	ENSP00000343405:p.Val510Ile					SEC24C_ENST00000411652.2_Missense_Mutation_p.V391I|SEC24C_ENST00000345254.4_Missense_Mutation_p.V510I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron	p.V510I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			12	1690	+	Prostate(51;0.0112)		510					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.1528G>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759998	0.89932	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.78595	-1.19;-1.19;-1.19	5.73	5.73	0.89815	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	M	0.86343	2.81	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	P;P;D	0.64506	0.761;0.879;0.926	D	0.90705	0.4623	10	0.87932	D	0	-16.2749	19.8926	0.96935	0.0:0.0:1.0:0.0	.	391;510;510	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	I	510;510;391	ENSP00000321845:V510I;ENSP00000343405:V510I;ENSP00000402913:V391I	ENSP00000343405:V510I	V	+	1	0	SEC24C	75195895	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	9.869000	0.99810	2.709000	0.92574	0.563000	0.77884	GTC		0.488	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			34	71	0	0	0	1	0	34	71				
VWF	7450	broad.mit.edu	37	12	6173434	6173434	+	Silent	SNP	G	G	A	rs111867665	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6173434G>A	ENST00000261405.5	-	12	1664	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	470	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGCTGGACGTCCTGGCCAT	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.0					ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1408-1410)gaC>gaT		von Willebrand factor	Antihemophilic Factor(DB00025)	G		4,4402	8.1+/-20.4	0,4,2199	103.0	70.0	81.0		1410	-3.2	0.0	12	dbSNP_132	81	0,8600		0,0,4300	no	coding-synonymous	VWF	NM_000552.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		470/2814	6173434	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6173434G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1410C>T	12.37:g.6173434G>A							p.D470D	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			12	1664	-			470			VWFD 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1410C>T	CCDS8539.1																																																																																				0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		20	16	0	0	0	1	0	20	16				
POU5F2	134187	broad.mit.edu	37	5	93076611	93076611	+	Missense_Mutation	SNP	C	C	T	rs543468590		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076611C>T	ENST00000510627.4	-	1	732	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	220					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GTTTCCGATTCGTCGCTCTCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17870	0.0		0.0	False		,,,				2504	0.001					ENST00000510627.4																			0											c.(658-660)cGa>cAa		POU domain class 5, transcription factor 2							101.0	96.0	98.0					5																	93076611		2021	4210	6231	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076611C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.659G>A	5.37:g.93076611C>T	ENSP00000464890:p.Arg220Gln					FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	p.R220Q	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	732	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	220					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.659G>A	CCDS59489.1																																																																																				0.547	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		20	34	0	0	0	1	0	20	34				
USP53	54532	broad.mit.edu	37	4	120181736	120181736	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120181736C>A	ENST00000274030.6	+	11	1929	c.750C>A	c.(748-750)gtC>gtA	p.V250V	USP53_ENST00000450251.1_Silent_p.V250V	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTGGTTTAGTCTGGGACTCCG	0.378																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(748-750)gtC>gtA		ubiquitin specific peptidase 53							152.0	141.0	144.0					4																	120181736		1838	4087	5925	SO:0001819	synonymous_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120181736C>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.750C>A	4.37:g.120181736C>A						USP53_ENST00000274030.6_Silent_p.V250V	p.V250V			Q70EK8	UBP53_HUMAN			7	1294	+			250						Silent	SNP	ENST00000274030.6	37	c.750C>A	CCDS43265.1																																																																																				0.378	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		31	45	1	0	5.45727e-16	1	7.024e-16	31	45				
WDR81	124997	broad.mit.edu	37	17	1631740	1631740	+	Missense_Mutation	SNP	G	G	A	rs549630324		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1631740G>A	ENST00000409644.1	+	1	3487	c.3487G>A	c.(3487-3489)Gtg>Atg	p.V1163M	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000309182.5_Missense_Mutation_p.V112M|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1163	Glu-rich.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ggaCAGCTGCGTGGTGCTAga	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17800	0.001		0.0	False		,,,				2504	0.0					ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3487-3489)Gtg>Atg		WD repeat domain 81							75.0	48.0	57.0					17																	1631740		2202	4296	6498	SO:0001583	missense	124997							g.chr17:1631740G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3487G>A	17.37:g.1631740G>A	ENSP00000386609:p.Val1163Met					WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_Missense_Mutation_p.V112M|RP11-961A15.1_ENST00000576540.1_RNA	p.V1163M	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	3487	+			0					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.3487G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	5.575	0.290824	0.10567	.	.	ENSG00000167716	ENST00000309182;ENST00000409644	T;T	0.51325	2.44;0.71	5.8	1.59	0.23543	.	0.551977	0.17966	N	0.156007	T	0.28665	0.0710	L	0.27053	0.805	0.09310	N	0.999999	P;B	0.46859	0.885;0.431	B;B	0.36666	0.23;0.086	T	0.09185	-1.0686	10	0.45353	T	0.12	.	8.7345	0.34519	0.1428:0.2082:0.649:0.0	.	290;112	Q8TEL1;Q562E7	.;WDR81_HUMAN	M	112;1163	ENSP00000312074:V112M;ENSP00000386609:V1163M	ENSP00000312074:V112M	V	+	1	0	WDR81	1578490	1.000000	0.71417	0.574000	0.28523	0.006000	0.05464	1.423000	0.34837	-0.090000	0.12462	-3.781000	0.00020	GTG		0.632	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		9	10	0	0	0	1	0	9	10				
ZKSCAN2	342357	broad.mit.edu	37	16	25258112	25258112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258112C>A	ENST00000328086.7	-	5	2208	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	469					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATCAGAATCTTCTGCAGCT	0.443																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1405-1407)Gat>Tat		zinc finger with KRAB and SCAN domains 2							152.0	138.0	143.0					16																	25258112		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258112C>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1405G>T	16.37:g.25258112C>A	ENSP00000331626:p.Asp469Tyr						p.D469Y	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	2208	-			469					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1405G>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857874	0.71834	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.09445	2.98	5.57	5.57	0.84162	.	0.263900	0.33040	N	0.005353	T	0.17577	0.0422	L	0.39898	1.24	0.37861	D	0.929717	P;P;P	0.52692	0.651;0.955;0.826	B;P;B	0.51135	0.259;0.66;0.259	T	0.00496	-1.1705	10	0.87932	D	0	-9.6131	15.4129	0.74941	0.0:1.0:0.0:0.0	.	265;469;469	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	Y	469	ENSP00000331626:D469Y	ENSP00000331626:D469Y	D	-	1	0	ZKSCAN2	25165613	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	3.839000	0.55835	2.780000	0.95670	0.655000	0.94253	GAT		0.443	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		14	126	1	0	3.35478e-16	1	4.32329e-16	14	126				
ALS2CR11	151254	broad.mit.edu	37	2	202467966	202467966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202467966G>A	ENST00000286195.3	-	3	395	c.351C>T	c.(349-351)tgC>tgT	p.C117C	ALS2CR11_ENST00000439140.1_Silent_p.C117C|ALS2CR11_ENST00000450242.1_Silent_p.C117C|ALS2CR11_ENST00000439802.1_Silent_p.C117C	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	117										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TAAAATGTCTGCAGTTCTTTA	0.333																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(349-351)tgC>tgT		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							76.0	81.0	79.0					2																	202467966		2203	4299	6502	SO:0001819	synonymous_variant	151254							g.chr2:202467966G>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.351C>T	2.37:g.202467966G>A						ALS2CR11_ENST00000450242.1_Silent_p.C117C|ALS2CR11_ENST00000439802.1_Silent_p.C117C|ALS2CR11_ENST00000286195.3_Silent_p.C117C	p.C117C	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			3	395	-			117					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	c.351C>T	CCDS2349.1																																																																																				0.333	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		16	31	0	0	0	1	0	16	31				
FANCI	55215	broad.mit.edu	37	15	89816700	89816700	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89816700G>T	ENST00000310775.7	+	11	1061	c.975G>T	c.(973-975)caG>caT	p.Q325H	FANCI_ENST00000300027.8_Splice_Site_p.Q325H	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	325					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCAGGACCAGGTATTTTTTT	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e11+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							77.0	83.0	81.0					15																	89816700		2200	4299	6499	SO:0001630	splice_region_variant	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89816700G>T	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.975+1G>T	15.37:g.89816700G>T						FANCI_ENST00000300027.8_Splice_Site_p.Q325_splice	p.Q325_splice	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			11	1061	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		325					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Splice_Site	SNP	ENST00000310775.7	37	c.975_splice	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946873	0.73672	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.72282	-0.62;-0.64;0.11	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84465	0.5478	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.79784	0.968;0.989;0.993	D	0.85303	0.1074	10	0.59425	D	0.04	-7.9545	19.2481	0.93912	0.0:0.0:1.0:0.0	.	325;325;325	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	H	325	ENSP00000300027:Q325H;ENSP00000310842:Q325H;ENSP00000413249:Q325H	ENSP00000300027:Q325H	Q	+	3	2	FANCI	87617704	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	6.267000	0.72546	2.569000	0.86673	0.467000	0.42956	CAG		0.313	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193	Missense_Mutation	5	101	1	0	0.184627	1	0.186383	5	101				
SLC4A1AP	22950	broad.mit.edu	37	2	27887225	27887225	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887225G>A	ENST00000326019.6	+	1	888	c.606G>A	c.(604-606)gaG>gaA	p.E202E	SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	202	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGTGCCTGGAGCACCCTTCGG	0.622																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(604-606)gaG>gaA		solute carrier family 4 (anion exchanger), member 1, adaptor protein							73.0	68.0	70.0					2																	27887225		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27887225G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.606G>A	2.37:g.27887225G>A							p.E202E	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			1	888	+	Acute lymphoblastic leukemia(172;0.155)		202			FHA.		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.606G>A	CCDS33166.1																																																																																				0.622	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		12	21	0	0	0	1	0	12	21				
PER1	5187	broad.mit.edu	37	17	8053349	8053349	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8053349C>T	ENST00000317276.4	-	4	706	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	PER1_ENST00000354903.5_Missense_Mutation_p.G141S|PER1_ENST00000581082.1_Missense_Mutation_p.G157S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	157					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGAGCGGCCCTTGCCCCGG	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(469-471)Ggc>Agc	Other conserved DNA damage response genes	period circadian clock 1							103.0	114.0	110.0					17																	8053349		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053349C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.469G>A	17.37:g.8053349C>T	ENSP00000314420:p.Gly157Ser					PER1_ENST00000581082.1_Missense_Mutation_p.G157S|PER1_ENST00000354903.5_Missense_Mutation_p.G141S	p.G157S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			4	706	-			157					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.469G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171488	0.94807	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.39056	2.44;1.1	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.80764	0.921;0.989;0.994	T	0.55598	-0.8116	10	0.54805	T	0.06	-24.0663	15.6785	0.77349	0.0:1.0:0.0:0.0	.	157;141;157	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	S	157;141	ENSP00000314420:G157S;ENSP00000346979:G141S	ENSP00000314420:G157S	G	-	1	0	PER1	7994074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.766000	0.68843	2.573000	0.86826	0.563000	0.77884	GGC		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			52	102	0	0	0	1	0	52	102				
POLR3E	55718	broad.mit.edu	37	16	22327981	22327981	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22327981G>T	ENST00000299853.5	+	10	869	c.702G>T	c.(700-702)gaG>gaT	p.E234D	POLR3E_ENST00000359210.4_Missense_Mutation_p.E234D|POLR3E_ENST00000564209.1_Missense_Mutation_p.E234D|POLR3E_ENST00000418581.2_Missense_Mutation_p.E198D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	234					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCGGGGTGGAGAACACGGAGC	0.637																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(700-702)gaG>gaT		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							54.0	48.0	50.0					16																	22327981		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22327981G>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.702G>T	16.37:g.22327981G>T	ENSP00000299853:p.Glu234Asp					POLR3E_ENST00000359210.4_Missense_Mutation_p.E234D|POLR3E_ENST00000564209.1_Missense_Mutation_p.E234D|POLR3E_ENST00000418581.2_Missense_Mutation_p.E198D	p.E234D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	10	869	+			234					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.702G>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459545	0.26248	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.43688	0.94;0.94;0.94	5.23	4.27	0.50696	.	0.049426	0.85682	D	0.000000	T	0.21962	0.0529	N	0.05124	-0.11	0.49687	D	0.999818	B;B;B;B;B;B	0.16396	0.017;0.008;0.017;0.012;0.008;0.012	B;B;B;B;B;B	0.23419	0.046;0.034;0.046;0.009;0.046;0.009	T	0.06006	-1.0851	10	0.87932	D	0	-31.2167	6.6361	0.22883	0.1596:0.1485:0.6919:0.0	.	178;198;234;234;234;234	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	D	234;234;198	ENSP00000299853:E234D;ENSP00000352140:E234D;ENSP00000399254:E198D	ENSP00000299853:E234D	E	+	3	2	POLR3E	22235482	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	2.612000	0.46343	1.188000	0.43014	0.563000	0.77884	GAG		0.637	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		4	44	1	0	1.23904e-05	1	1.39987e-05	4	44				
CEPT1	10390	broad.mit.edu	37	1	111726101	111726101	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111726101A>G	ENST00000545121.1	+	8	1231	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	CEPT1_ENST00000357172.4_Silent_p.K341K|RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	341					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ACATGACGAAAAGTGAAATGC	0.348																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(1021-1023)aaA>aaG		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						141.0	132.0	135.0					1																	111726101		2203	4300	6503	SO:0001819	synonymous_variant	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111726101A>G	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.1023A>G	1.37:g.111726101A>G						CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_Silent_p.K341K	p.K341K	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	8	1231	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	341					Q69YJ9|Q9P0Y8	Silent	SNP	ENST00000545121.1	37	c.1023A>G	CCDS830.1																																																																																				0.348	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		24	86	0	0	0	1	0	24	86				
MYEF2	50804	broad.mit.edu	37	15	48443753	48443753	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48443753G>A	ENST00000324324.7	-	13	1502	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MYEF2_ENST00000267836.6_Missense_Mutation_p.A408V	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	408	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTAGTCATCGCACCACGGTA	0.373																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1222-1224)gCg>gTg		myelin expression factor 2							209.0	214.0	212.0					15																	48443753		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48443753G>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1223C>T	15.37:g.48443753G>A	ENSP00000316950:p.Ala408Val					MYEF2_ENST00000267836.6_Missense_Mutation_p.A408V	p.A408V	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	13	1502	-		all_lung(180;0.00217)	408			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1223C>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141592	0.57044	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.21734	2.55;1.99	5.59	4.65	0.58169	.	0.048608	0.85682	D	0.000000	T	0.16557	0.0398	N	0.14661	0.345	0.38537	D	0.949127	D;P	0.60160	0.987;0.955	P;B	0.47786	0.557;0.355	T	0.03139	-1.1068	10	0.38643	T	0.18	-7.7882	12.8414	0.57805	0.0:0.4016:0.5984:0.0	.	408;408	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	V	408;408;20	ENSP00000316950:A408V;ENSP00000267836:A408V	ENSP00000267836:A408V	A	-	2	0	MYEF2	46231045	1.000000	0.71417	0.944000	0.38274	0.910000	0.53928	5.893000	0.69798	2.639000	0.89480	0.655000	0.94253	GCG		0.373	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		93	155	0	0	0	1	0	93	155				
ZNF710	374655	broad.mit.edu	37	15	90611596	90611596	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90611596C>T	ENST00000268154.4	+	2	1478	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCATGTCTGCGTCGAGTGCG	0.652																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1225-1227)tgC>tgT		zinc finger protein 710							53.0	53.0	53.0					15																	90611596		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611596C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1227C>T	15.37:g.90611596C>T							p.C409C	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1478	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		409					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1227C>T	CCDS10358.1																																																																																				0.652	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		16	31	0	0	0	1	0	16	31				
ATF5	22809	broad.mit.edu	37	19	50436081	50436081	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50436081C>A	ENST00000423777.2	+	3	958	c.581C>A	c.(580-582)cCt>cAt	p.P194H	ATF5_ENST00000595125.1_Missense_Mutation_p.P194H|CTC-326K19.6_ENST00000451973.1_Intron|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	194	Interaction with PTP4A1. {ECO:0000250}.|Poly-Pro.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCACCTCAACCTTCTCGCCTG	0.657																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(580-582)cCt>cAt		activating transcription factor 5							32.0	24.0	27.0					19																	50436081		2201	4299	6500	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436081C>A	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.581C>A	19.37:g.50436081C>A	ENSP00000396954:p.Pro194His					ATF5_ENST00000595125.1_Missense_Mutation_p.P194H|CTC-326K19.6_ENST00000451973.1_Intron	p.P194H	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	958	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	194			Interaction with PTP4A1 (By similarity).|Poly-Pro.		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.581C>A	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	C	2.872	-0.233852	0.05983	.	.	ENSG00000169136	ENST00000423777	T	0.47177	0.85	3.73	2.67	0.31697	.	0.594871	0.15260	N	0.271835	T	0.34366	0.0895	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.23013	-1.0200	10	0.44086	T	0.13	-0.1436	10.1919	0.43032	0.2003:0.7997:0.0:0.0	.	194	Q9Y2D1	ATF5_HUMAN	H	194	ENSP00000396954:P194H	ENSP00000396954:P194H	P	+	2	0	ATF5	55127893	0.023000	0.18921	0.003000	0.11579	0.071000	0.16799	1.829000	0.39121	0.768000	0.33290	0.448000	0.29417	CCT		0.657	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			4	2	1	0	0.000602214	1	0.000649039	4	2				
C8B	732	broad.mit.edu	37	1	57415267	57415267	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57415267G>A	ENST00000371237.4	-	6	891	c.825C>T	c.(823-825)ggC>ggT	p.G275G	C8B_ENST00000543257.1_Silent_p.G223G|C8B_ENST00000535057.1_Silent_p.G213G	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	275	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TATAGTGTTTGCCTCGATCAC	0.368																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(667-669)ggC>ggT		complement component 8, beta polypeptide							165.0	163.0	164.0					1																	57415267		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57415267G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.825C>T	1.37:g.57415267G>A						C8B_ENST00000535057.1_Silent_p.G213G|C8B_ENST00000371237.4_Silent_p.G275G	p.G223G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			7	1235	-			275			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.669C>T	CCDS30730.1																																																																																				0.368	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			22	40	0	0	0	1	0	22	40				
SYTL2	54843	broad.mit.edu	37	11	85435377	85435377	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85435377G>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.T708N|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.T708N|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.T1232N	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGTTTTAATGGTCCCTATTTC	0.488																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3694-3696)aCc>aAc		synaptotagmin-like 2							89.0	87.0	88.0					11																	85435377		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435377G>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3375C>A	11.37:g.85435377G>T						SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.T708N|SYTL2_ENST00000525423.1_Missense_Mutation_p.T708N	p.T1232N	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3694	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	393					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.3695C>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	0.783	-0.761694	0.02996	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.37235	1.69;1.69;1.69;1.21	6.17	0.11	0.14611	.	1.661080	0.02525	N	0.092932	T	0.23249	0.0562	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.11329	0.006;0.006;0.006	T	0.10405	-1.0631	9	.	.	.	4.5508	2.8992	0.05700	0.146:0.0968:0.3765:0.3807	.	708;708;708	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	N	1232;708;708;127	ENSP00000352065:T1232N;ENSP00000346576:T708N;ENSP00000432694:T708N;ENSP00000435009:T127N	.	T	-	2	0	SYTL2	85113025	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.318000	0.19504	0.108000	0.17862	0.655000	0.94253	ACC		0.488	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		31	51	1	0	2.65835e-16	1	3.4289e-16	31	51				
LMTK2	22853	broad.mit.edu	37	7	97822889	97822889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822889G>A	ENST00000297293.5	+	11	3405	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1038					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGAACTTGGAGTCTCCCGA	0.617																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3112-3114)Gag>Aag		lemur tyrosine kinase 2							62.0	68.0	66.0					7																	97822889		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822889G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3112G>A	7.37:g.97822889G>A	ENSP00000297293:p.Glu1038Lys						p.E1038K	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3405	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1038					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3112G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804370	0.96967	.	.	ENSG00000164715	ENST00000297293	D	0.94576	-3.46	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97771	1.0226	10	0.87932	D	0	.	18.4759	0.90792	0.0:0.0:1.0:0.0	.	1038	Q8IWU2	LMTK2_HUMAN	K	1038	ENSP00000297293:E1038K	ENSP00000297293:E1038K	E	+	1	0	LMTK2	97660825	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	9.414000	0.97362	2.679000	0.91253	0.650000	0.86243	GAG		0.617	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		36	28	0	0	0	1	0	36	28				
TBCEL	219899	broad.mit.edu	37	11	120930770	120930770	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120930770T>G	ENST00000529397.1	+	7	1032	c.932T>G	c.(931-933)gTt>gGt	p.V311G	TBCEL_ENST00000422003.2_Missense_Mutation_p.V311G	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TATGTGGATGTTCCACAGGAA	0.398																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(931-933)gTt>gGt		tubulin folding cofactor E-like							96.0	89.0	91.0					11																	120930770		2202	4299	6501	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120930770T>G	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.932T>G	11.37:g.120930770T>G	ENSP00000437184:p.Val311Gly					TBCEL_ENST00000529397.1_Missense_Mutation_p.V311G	p.V311G	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	7	1120	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	311					Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.932T>G	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638380	0.29157	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533134;ENST00000533169	T;T;T	0.46451	0.87;0.87;0.87	5.6	5.6	0.85130	.	0.363470	0.31450	N	0.007637	T	0.29423	0.0733	N	0.19112	0.55	0.52501	D	0.999957	B	0.13145	0.007	B	0.13407	0.009	T	0.08889	-1.0700	10	0.17369	T	0.5	-5.2033	15.7749	0.78207	0.0:0.0:0.0:1.0	.	311	Q5QJ74	TBCEL_HUMAN	G	311;311;78;114	ENSP00000437184:V311G;ENSP00000403925:V311G;ENSP00000436419:V78G	ENSP00000403925:V311G	V	+	2	0	TBCEL	120435980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.497000	0.45354	2.123000	0.65237	0.377000	0.23210	GTT		0.398	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		10	49	0	0	0	1	0	10	49				
PCYOX1	51449	broad.mit.edu	37	2	70486557	70486557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70486557G>T	ENST00000433351.2	+	2	206	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	PCYOX1_ENST00000264441.5_Missense_Mutation_p.D60Y|PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000545138.1_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	60					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						ATTTGGGAAAGATGTGAAGAT	0.488																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(178-180)Gat>Tat		prenylcysteine oxidase 1							185.0	209.0	201.0					2																	70486557		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70486557G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.178G>T	2.37:g.70486557G>T	ENSP00000387654:p.Asp60Tyr					PCYOX1_ENST00000264441.5_Missense_Mutation_p.D60Y|PCYOX1_ENST00000545138.1_5'UTR|PCYOX1_ENST00000505044.2_5'UTR	p.D60Y	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			2	206	+			60					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.178G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244988	0.59103	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	D;D	0.81659	-1.52;-1.52	5.39	2.62	0.31277	FAD dependent oxidoreductase (1);	0.533478	0.23176	N	0.051061	D	0.84866	0.5567	M	0.76433	2.335	0.21290	N	0.999739	D;D	0.64830	0.994;0.993	D;D	0.64321	0.91;0.924	T	0.74509	-0.3642	10	0.62326	D	0.03	-9.9102	4.167	0.10312	0.3238:0.1645:0.5117:0.0	.	60;60	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	Y	60	ENSP00000387654:D60Y;ENSP00000264441:D60Y	ENSP00000264441:D60Y	D	+	1	0	PCYOX1	70340061	0.266000	0.24112	0.813000	0.32504	0.991000	0.79684	2.446000	0.44908	0.400000	0.25396	0.655000	0.94253	GAT		0.488	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		8	312	1	0	1.12685e-05	1	1.27857e-05	8	312				
GALNT11	63917	broad.mit.edu	37	7	151805282	151805282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151805282G>A	ENST00000434507.1	+	8	1309	c.872G>A	c.(871-873)cGc>cAc	p.R291H	GALNT11_ENST00000430044.2_Missense_Mutation_p.R291H|GALNT11_ENST00000320311.2_Missense_Mutation_p.R291H|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000452146.2_Missense_Mutation_p.R210H			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	291					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCTGTCGTCCGCGGAGGGTTC	0.602																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(871-873)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							71.0	71.0	71.0					7																	151805282		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151805282G>A	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.872G>A	7.37:g.151805282G>A	ENSP00000416787:p.Arg291His					GALNT11_ENST00000320311.2_Missense_Mutation_p.R291H|GALNT11_ENST00000452146.2_Missense_Mutation_p.R210H|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.R291H	p.R291H			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	8	1309	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	291					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.872G>A	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	34	5.383682	0.95967	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.964;0.978;0.983	D	0.85767	0.1353	10	0.54805	T	0.06	.	18.9079	0.92471	0.0:0.0:1.0:0.0	.	210;291;291	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	H	291;210;291;291;291	ENSP00000395122:R291H;ENSP00000393399:R210H;ENSP00000416787:R291H;ENSP00000315835:R291H	ENSP00000315835:R291H	R	+	2	0	GALNT11	151436215	1.000000	0.71417	0.643000	0.29450	0.815000	0.46073	8.007000	0.88571	2.445000	0.82738	0.650000	0.86243	CGC		0.602	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		5	68	0	0	0	1	0	5	68				
ABLIM2	84448	broad.mit.edu	37	4	7986584	7986584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7986584C>T	ENST00000341937.5	-	17	1679	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000514025.1_Missense_Mutation_p.A274T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A573T|ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000318888.4_Missense_Mutation_p.A274T|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A487T	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	539					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCCCAGCTGGCATCCGGGTCT	0.617																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(820-822)Gcc>Acc		actin binding LIM protein family, member 2							37.0	39.0	38.0					4																	7986584		1566	3577	5143	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:7986584C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1615G>A	4.37:g.7986584C>T	ENSP00000342813:p.Ala539Thr					ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A487T|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A539T|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A573T|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000514025.1_Missense_Mutation_p.A274T|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000296372.8_Intron	p.A274T			Q6H8Q1	ABLM2_HUMAN			17	1691	-			539		K -> M (in a pancreatic ductal adenocarcinoma sample; somatic mutation).			E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.820G>A	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335281	0.41398	.	.	ENSG00000163995	ENST00000400045;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000505872	T;T;T;T;T	0.45668	0.89;0.89;1.77;1.83;1.56	4.36	2.43	0.29744	Villin headpiece (2);	1.300330	0.05369	N	0.535015	T	0.29945	0.0749	N	0.16478	0.41	0.34775	D	0.734099	B;B;B;B	0.24721	0.0;0.11;0.015;0.0	B;B;B;B	0.21546	0.001;0.035;0.009;0.002	T	0.21965	-1.0230	10	0.39692	T	0.17	.	9.7404	0.40416	0.0:0.7966:0.0:0.2034	.	539;487;274;573	Q6H8Q1;Q19VH0;Q6H8Q1-4;E9PF39	ABLM2_HUMAN;.;.;.	T	572;274;274;573;539;487	ENSP00000317020:A274T;ENSP00000423661:A274T;ENSP00000393511:A573T;ENSP00000342813:A539T;ENSP00000421283:A487T	ENSP00000317020:A274T	A	-	1	0	ABLIM2	8037484	0.991000	0.36638	0.997000	0.53966	0.974000	0.67602	0.304000	0.19228	1.053000	0.40415	0.563000	0.77884	GCC		0.617	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		4	4	0	0	0	1	0	4	4				
SNX6	58533	broad.mit.edu	37	14	35062309	35062309	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35062309A>C	ENST00000362031.4	-	8	726	c.696T>G	c.(694-696)taT>taG	p.Y232*	SNX6_ENST00000396526.3_Nonsense_Mutation_p.Y104*|SNX6_ENST00000355110.5_Nonsense_Mutation_p.Y108*|SNX6_ENST00000396534.3_Nonsense_Mutation_p.Y104*	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	220					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTCGGTTATGATACTCCAAAA	0.303																																						ENST00000396526.3																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(310-312)taT>taG		sorting nexin 6							74.0	72.0	73.0					14																	35062309		2202	4297	6499	SO:0001587	stop_gained	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35062309A>C	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.696T>G	14.37:g.35062309A>C	ENSP00000355217:p.Tyr232*					SNX6_ENST00000396534.3_Nonsense_Mutation_p.Y104*|SNX6_ENST00000355110.5_Nonsense_Mutation_p.Y108*|SNX6_ENST00000362031.4_Nonsense_Mutation_p.Y232*	p.Y104*			Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	7	808	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		220			PX.|Phosphatidylinositol bisphosphate binding (By similarity).		C0H5W9|Q9Y449	Nonsense_Mutation	SNP	ENST00000362031.4	37	c.312T>G	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.777184	0.90195	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110;ENST00000557265	.	.	.	4.69	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2967	6.2195	0.20673	0.6748:0.0:0.3252:0.0	.	.	.	.	X	104;104;232;108;195	.	ENSP00000347230:Y108X	Y	-	3	2	SNX6	34132060	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	0.765000	0.33221	0.459000	0.35465	TAT		0.303	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			3	35	0	0	0	1	0	3	35				
SUSD5	26032	broad.mit.edu	37	3	33255436	33255436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33255436C>T	ENST00000309558.3	-	2	691	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	92	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTACCATCTGCTAGCCAGCCA	0.542																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(274-276)Gca>Aca		sushi domain containing 5							73.0	77.0	76.0					3																	33255436		2030	4182	6212	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33255436C>T	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.274G>A	3.37:g.33255436C>T	ENSP00000308727:p.Ala92Thr						p.A92T	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			2	691	-			92			Link.			Missense_Mutation	SNP	ENST00000309558.3	37	c.274G>A	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971141	0.53614	.	.	ENSG00000173705	ENST00000309558	T	0.10099	2.91	4.68	4.68	0.58851	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.147561	0.45361	D	0.000380	T	0.31071	0.0785	M	0.68317	2.08	0.43603	D	0.995969	D	0.89917	1.0	D	0.87578	0.998	T	0.02909	-1.1095	10	0.66056	D	0.02	-16.7752	14.5147	0.67811	0.0:1.0:0.0:0.0	.	92	O60279	SUSD5_HUMAN	T	92	ENSP00000308727:A92T	ENSP00000308727:A92T	A	-	1	0	SUSD5	33230440	1.000000	0.71417	0.996000	0.52242	0.217000	0.24651	4.951000	0.63610	2.125000	0.65367	0.650000	0.86243	GCA		0.542	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		11	25	0	0	0	1	0	11	25				
KIAA1683	80726	broad.mit.edu	37	19	18377077	18377077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18377077C>T	ENST00000600328.3	-	3	1466	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A379T|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A425T			Q9H0B3	K1683_HUMAN	KIAA1683	425						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGTTCTTTGCCGTGATGGTC	0.607																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1273-1275)Gca>Aca		KIAA1683							121.0	102.0	109.0					19																	18377077		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18377077C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1273G>A	19.37:g.18377077C>T	ENSP00000470780:p.Ala425Thr					KIAA1683_ENST00000600359.2_Missense_Mutation_p.A379T|KIAA1683_ENST00000600328.2_Missense_Mutation_p.A425T	p.A425T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	1488	-			425					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.1273G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.587976	0.13812	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.03468	3.94;3.95;3.92	3.94	-4.7	0.03288	.	1.183280	0.06534	N	0.741915	T	0.02929	0.0087	L	0.33485	1.01	0.09310	N	1	B;B	0.26081	0.141;0.022	B;B	0.20184	0.028;0.009	T	0.47911	-0.9080	10	0.08179	T	0.78	6.3998	11.7507	0.51847	0.0:0.1588:0.0:0.8412	.	425;425	E9PDE0;Q9H0B3	.;K1683_HUMAN	T	425;425;379;424	ENSP00000376213:A425T;ENSP00000352774:A425T;ENSP00000404501:A379T	ENSP00000351198:A424T	A	-	1	0	KIAA1683	18238077	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.185000	0.00567	-1.196000	0.02676	0.561000	0.74099	GCA		0.607	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			32	47	0	0	0	1	0	32	47				
PROM2	150696	broad.mit.edu	37	2	95940258	95940258	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95940258G>A	ENST00000317620.9	+	0	58				PROM2_ENST00000403131.2_De_novo_Start_InFrame|PROM2_ENST00000542147.1_De_novo_Start_InFrame|PROM2_ENST00000317668.4_De_novo_Start_InFrame|PROM2_ENST00000463580.1_3'UTR	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2						negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGACAGAGGCTGGAGAAGG	0.607																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32								prominin 2																																						150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95940258G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393		2.37:g.95940258G>A						PROM2_ENST00000317668.4_De_novo_Start_InFrame|PROM2_ENST00000403131.2_De_novo_Start_InFrame|PROM2_ENST00000542147.1_De_novo_Start_InFrame|PROM2_ENST00000463580.1_3'UTR		NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			0	58	+								A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Translation_Start_Site	SNP	ENST00000317620.9	37		CCDS2012.1																																																																																				0.607	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		11	14	0	0	0	1	0	11	14				
TRA2B	6434	broad.mit.edu	37	3	185643365	185643365	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185643365G>A	ENST00000453386.2	-	3	495	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	74	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GAGCGGGAGCGAGACCGTGAC	0.507																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(220-222)Cgc>Tgc		transformer 2 beta homolog (Drosophila)							125.0	115.0	118.0					3																	185643365		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185643365G>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.220C>T	3.37:g.185643365G>A	ENSP00000416959:p.Arg74Cys					TRA2B_ENST00000382191.4_5'UTR	p.R74C	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			3	495	-			74			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.220C>T	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207034	0.79127	.	.	ENSG00000136527	ENST00000453386	T	0.41758	0.99	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.74881	2.28	0.80722	D	1	D;D	0.69078	0.991;0.997	B;B	0.44315	0.446;0.446	T	0.55237	-0.8172	10	0.44086	T	0.13	-2.5224	16.3222	0.82954	0.0:0.1326:0.8674:0.0	.	74;74	B2RDQ3;P62995	.;TRA2B_HUMAN	C	74	ENSP00000416959:R74C	ENSP00000416959:R74C	R	-	1	0	TRA2B	187126059	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	9.835000	0.99442	1.585000	0.49928	0.655000	0.94253	CGC		0.507	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		5	48	0	0	0	1	0	5	48				
SLC7A13	157724	broad.mit.edu	37	8	87242353	87242353	+	Missense_Mutation	SNP	C	C	T	rs139761067		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87242353C>T	ENST00000297524.3	-	1	257	c.154G>A	c.(154-156)Gtt>Att	p.V52I	SLC7A13_ENST00000419776.2_Missense_Mutation_p.V52I|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	52						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.V52I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCAGCCCAAACGCACAGGGAG	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18568	0.0		0.0	False		,,,				2504	0.0					ENST00000297524.3																			1	Substitution - Missense(1)	p.V52I(1)	breast(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(154-156)Gtt>Att		solute carrier family 7 (anionic amino acid transporter), member 13		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	77.0	80.0		154	-5.2	0.0	8	dbSNP_134	80	3,8597	2.2+/-6.3	0,3,4297	yes	missense	SLC7A13	NM_138817.2	29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	52/471	87242353	4,13002	2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242353C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.154G>A	8.37:g.87242353C>T	ENSP00000297524:p.Val52Ile					SLC7A13_ENST00000419776.2_Missense_Mutation_p.V52I|SLC7A13_ENST00000520624.1_Intron	p.V52I	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	257	-			52					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.154G>A	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214263	0.01555	2.27E-4	3.49E-4	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90504	-2.68;-2.68	3.93	-5.25	0.02781	Amino acid permease domain (1);	0.345327	0.24001	N	0.042474	T	0.71651	0.3365	N	0.10760	0.04	0.09310	N	1	B;B	0.29571	0.249;0.01	B;B	0.24155	0.051;0.008	T	0.66056	-0.6018	10	0.02654	T	1	.	12.9437	0.58362	0.0:0.6146:0.0:0.3854	.	52;52	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	I	52	ENSP00000297524:V52I;ENSP00000410982:V52I	ENSP00000297524:V52I	V	-	1	0	SLC7A13	87311469	0.024000	0.19004	0.000000	0.03702	0.002000	0.02628	0.099000	0.15210	-1.086000	0.03084	-0.888000	0.02935	GTT		0.448	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		4	61	0	0	0	1	0	4	61				
ESRRG	2104	broad.mit.edu	37	1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216824353C>T	ENST00000408911.3	-	3	704	c.551G>A	c.(550-552)cGc>cAc	p.R184H	ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H|ESRRG_ENST00000391890.3_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(481-483)cGc>cAc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						139.0	132.0	134.0					1																	216824353		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216824353C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.551G>A	1.37:g.216824353C>T	ENSP00000386171:p.Arg184His					ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000408911.3_Missense_Mutation_p.R184H|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H	p.R161H	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	999	-			184					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.482G>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452979	0.96223	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.74	5.74	0.90152	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.989;0.995	D	0.97420	1.0008	10	0.87932	D	0	.	19.9295	0.97114	0.0:1.0:0.0:0.0	.	189;184	F8W8J3;P62508	.;ERR3_HUMAN	H	161;161;189;184;161;161;161;161;161;161;161;161;161;161	ENSP00000355225:R161H;ENSP00000355907:R161H;ENSP00000355904:R189H;ENSP00000386171:R184H;ENSP00000352077:R161H;ENSP00000354584:R161H;ENSP00000355905:R161H;ENSP00000353108:R161H;ENSP00000419594:R161H;ENSP00000375761:R161H;ENSP00000419155:R161H;ENSP00000417374:R161H;ENSP00000419514:R161H	ENSP00000346386:R161H	R	-	2	0	ESRRG	214890976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.695000	0.91970	0.655000	0.94253	CGC		0.448	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		40	61	0	0	0	1	0	40	61				
TTN	7273	broad.mit.edu	37	2	179403356	179403356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403356G>T	ENST00000591111.1	-	304	94501	c.94277C>A	c.(94276-94278)aCt>aAt	p.T31426N	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T24002N|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24127N|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30499N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T33067N|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24194N|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31426	Fibronectin type-III 129. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATACTCAGTAGCTTCCAG	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(99199-99201)aCt>aAt		titin							169.0	170.0	169.0					2																	179403356		1933	4149	6082	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403356G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94277C>A	2.37:g.179403356G>T	ENSP00000465570:p.Thr31426Asn					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T24002N|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30499N|TTN_ENST00000359218.5_Missense_Mutation_p.T24127N|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24194N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T31426N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA	p.T33067N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		354	99424	-			31426					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.99200C>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.058159	0.76074	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79106	0.4390	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.78797	-0.2063	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	24002;24127;24194;31426	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	30499;24002;24194;24127;23999	ENSP00000343764:T30499N;ENSP00000434586:T24002N;ENSP00000340554:T24194N;ENSP00000352154:T24127N	ENSP00000340554:T24194N	T	-	2	0	TTN	179111602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	ACT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	85	1	0	1.19403e-26	1	1.59107e-26	60	85				
IQSEC2	23096	broad.mit.edu	37	X	53285038	53285038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53285038G>A	ENST00000375368.5	-	2	1113	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	IQSEC2_ENST00000396435.3_Missense_Mutation_p.R315C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R110C			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	305					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCCTTGGAGCGCTTTATCTCC	0.632																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(943-945)Cgc>Tgc		IQ motif and Sec7 domain 2							80.0	65.0	70.0					X																	53285038		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53285038G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.913C>T	X.37:g.53285038G>A	ENSP00000364517:p.Arg305Cys					IQSEC2_ENST00000375365.2_Missense_Mutation_p.R110C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.R305C	p.R315C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			3	1143	-			305					B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.943C>T		.	.	.	.	.	.	.	.	.	.	G	15.53	2.860560	0.51482	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.78481	-1.18;-1.18;-1.18	4.63	3.65	0.41850	.	0.482604	0.17436	N	0.174300	T	0.80732	0.4679	L	0.31476	0.935	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.81728	-0.0800	10	0.72032	D	0.01	.	11.8754	0.52544	0.0:0.0:0.7322:0.2678	.	315;110	Q5JU85-2;Q5JU85-3	.;.	C	315;305;110	ENSP00000379712:R315C;ENSP00000364517:R305C;ENSP00000364514:R110C	ENSP00000364514:R110C	R	-	1	0	IQSEC2	53301763	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.225000	0.32551	1.881000	0.54492	0.461000	0.40582	CGC		0.632	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		14	17	0	0	0	1	0	14	17				
HFM1	164045	broad.mit.edu	37	1	91841220	91841220	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91841220C>A	ENST00000370425.3	-	12	1558	c.1460G>T	c.(1459-1461)aGa>aTa	p.R487I	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.R166I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	487					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1459-1461)aGa>aTa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							135.0	127.0	130.0					1																	91841220		1863	4099	5962	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91841220C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1460G>T	1.37:g.91841220C>A	ENSP00000359454:p.Arg487Ile					HFM1_ENST00000370424.3_Missense_Mutation_p.R166I|HFM1_ENST00000294696.5_5'UTR	p.R487I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1558	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	487					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1460G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948242	0.92593	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.95205	-0.65;-3.64	5.4	5.4	0.78164	DEAD-like helicase (1);	0.113565	0.28964	U	0.013562	D	0.97967	0.9331	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98860	1.0762	10	0.87932	D	0	.	19.1759	0.93602	0.0:1.0:0.0:0.0	.	166;487	A6NGI5;A2PYH4	.;HFM1_HUMAN	I	487;166;171;520	ENSP00000359454:R487I;ENSP00000359453:R166I	ENSP00000359450:R171I	R	-	2	0	HFM1	91613808	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.762000	0.85270	2.544000	0.85801	0.563000	0.77884	AGA		0.378	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		107	85	1	0	7.13616e-70	1	9.66156e-70	107	85				
TAF5L	27097	broad.mit.edu	37	1	229745874	229745874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229745874G>A	ENST00000366676.1	-	2	225	c.226C>T	c.(226-228)Cga>Tga	p.R76*	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Nonsense_Mutation_p.R76*|TAF5L_ENST00000366675.3_Nonsense_Mutation_p.R76*			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	76					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCCGCAGTCGTCCAAACTGT	0.443																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(226-228)Cga>Tga		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							94.0	87.0	89.0					1																	229745874		2203	4300	6503	SO:0001587	stop_gained	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229745874G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.226C>T	1.37:g.229745874G>A	ENSP00000355636:p.Arg76*					TAF5L_ENST00000258281.2_Nonsense_Mutation_p.R76*|TAF5L_ENST00000366676.1_Nonsense_Mutation_p.R76*|TAF5L_ENST00000477957.1_5'UTR	p.R76*	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			3	314	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	76					Q5TDI5|Q5TDI6|Q8IW31	Nonsense_Mutation	SNP	ENST00000366676.1	37	c.226C>T	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805254	0.96967	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.7101	12.7543	0.57325	0.0:0.0:0.7114:0.2886	.	.	.	.	X	76	.	.	R	-	1	2	TAF5L	227812497	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	2.233000	0.43027	2.420000	0.82092	0.549000	0.68633	CGA		0.443	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		6	64	0	0	0	1	0	6	64				
KRT1	3848	broad.mit.edu	37	12	53074048	53074048	+	Missense_Mutation	SNP	G	G	A	rs201494492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53074048G>A	ENST00000252244.3	-	1	143	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	29	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTGGTCCTGCGCTGGTAGTTG	0.557																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(85-87)Cgc>Tgc		keratin 1							73.0	78.0	77.0					12																	53074048		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53074048G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.85C>T	12.37:g.53074048G>A	ENSP00000252244:p.Arg29Cys						p.R29C	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			1	143	-			29			Gly/Phe/Ser-rich.|Head.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.85C>T	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712107	0.30322	.	.	ENSG00000167768	ENST00000252244	D	0.82344	-1.6	4.13	3.21	0.36854	.	.	.	.	.	D	0.83266	0.5217	M	0.86178	2.8	0.34805	D	0.737104	D	0.63880	0.993	B	0.41135	0.348	D	0.88303	0.2951	9	0.87932	D	0	.	11.7499	0.51843	0.0:0.0:0.6117:0.3883	.	29	P04264	K2C1_HUMAN	C	29	ENSP00000252244:R29C	ENSP00000252244:R29C	R	-	1	0	KRT1	51360315	0.022000	0.18835	0.501000	0.27601	0.895000	0.52256	0.875000	0.28079	0.846000	0.35142	0.491000	0.48974	CGC		0.557	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		8	60	0	0	0	1	0	8	60				
PREB	10113	broad.mit.edu	37	2	27355486	27355486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27355486C>T	ENST00000260643.2	-	5	990	c.737G>A	c.(736-738)cGc>cAc	p.R246H	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Missense_Mutation_p.R246H	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	246					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGGTAGCGGTAAGGTGT	0.587																																						ENST00000260643.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(736-738)cGc>cAc		prolactin regulatory element binding							84.0	80.0	81.0					2																	27355486		2203	4300	6503	SO:0001583	missense	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27355486C>T		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.737G>A	2.37:g.27355486C>T	ENSP00000260643:p.Arg246His					PREB_ENST00000406567.3_Missense_Mutation_p.R246H	p.R246H	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN			5	990	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		246					Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	c.737G>A	CCDS1738.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954796	0.73902	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.30182	1.54;4.97	5.76	5.76	0.90799	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.49466	-0.8937	10	0.33141	T	0.24	-16.6506	15.4707	0.75439	0.0:1.0:0.0:0.0	.	246;246	B5MC98;Q9HCU5	.;PREB_HUMAN	H	246	ENSP00000260643:R246H;ENSP00000384032:R246H	ENSP00000260643:R246H	R	-	2	0	PREB	27208990	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	5.626000	0.67777	2.728000	0.93425	0.655000	0.94253	CGC		0.587	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		11	23	0	0	0	1	0	11	23				
AKAP13	11214	broad.mit.edu	37	15	86087014	86087014	+	Nonsense_Mutation	SNP	C	C	T	rs576412136		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86087014C>T	ENST00000394518.2	+	5	585	c.490C>T	c.(490-492)Cga>Tga	p.R164*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.R164*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	164					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTGGCCCGCGAGAGACATT	0.458																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(490-492)Cga>Tga		A kinase (PRKA) anchor protein 13							53.0	51.0	52.0					15																	86087014		2202	4299	6501	SO:0001587	stop_gained	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86087014C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.490C>T	15.37:g.86087014C>T	ENSP00000378026:p.Arg164*					AKAP13_ENST00000361243.2_Nonsense_Mutation_p.R164*	p.R164*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			5	585	+			164					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	37	c.490C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	38	6.786497	0.97837	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.27	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.741	0.62847	0.1544:0.8456:0.0:0.0	.	.	.	.	X	164;164;163;163	.	ENSP00000354718:R164X	R	+	1	2	AKAP13	83888018	0.998000	0.40836	0.998000	0.56505	0.699000	0.40488	3.842000	0.55858	2.455000	0.83008	0.462000	0.41574	CGA		0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		12	24	0	0	0	1	0	12	24				
EMR1	2015	broad.mit.edu	37	19	6921808	6921808	+	Missense_Mutation	SNP	A	A	G	rs201029019		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6921808A>G	ENST00000312053.4	+	14	1742	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V	EMR1_ENST00000250572.8_Missense_Mutation_p.I569V|EMR1_ENST00000381404.4_Missense_Mutation_p.I517V|EMR1_ENST00000381407.5_Missense_Mutation_p.I428V|EMR1_ENST00000450315.3_Missense_Mutation_p.I392V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	569	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.|Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGCTGTGTGATCCTGGAAGC	0.468																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1705-1707)Atc>Gtc		egf-like module containing, mucin-like, hormone receptor-like 1							150.0	131.0	137.0					19																	6921808		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6921808A>G	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1705A>G	19.37:g.6921808A>G	ENSP00000311545:p.Ile569Val					EMR1_ENST00000250572.8_Missense_Mutation_p.I569V|EMR1_ENST00000381407.5_Missense_Mutation_p.I428V|EMR1_ENST00000450315.3_Missense_Mutation_p.I392V|EMR1_ENST00000381404.4_Missense_Mutation_p.I517V	p.I569V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			14	1742	+	all_hematologic(4;0.166)		569			GPS.|Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1705A>G	CCDS12175.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.013	-1.612869	0.00835	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	4.43	-8.85	0.00799	GPS domain (3);	.	.	.	.	T	0.26231	0.0640	N	0.02225	-0.63	0.09310	N	1	B;B;B;B;B	0.13145	0.001;0.007;0.004;0.003;0.002	B;B;B;B;B	0.16722	0.002;0.016;0.005;0.011;0.005	T	0.41822	-0.9487	9	0.28530	T	0.3	.	11.3669	0.49677	0.3193:0.1076:0.5731:0.0	.	392;428;569;517;569	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	V	569;569;517;569;428;392	ENSP00000311545:I569V;ENSP00000370811:I517V;ENSP00000250572:I569V;ENSP00000370814:I428V;ENSP00000405974:I392V	ENSP00000250572:I569V	I	+	1	0	EMR1	6872808	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.260000	0.01177	-2.953000	0.00292	-1.174000	0.01732	ATC		0.468	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			7	72	0	0	0	1	0	7	72				
ABCC1	4363	broad.mit.edu	37	16	16225792	16225792	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16225792G>T	ENST00000399410.3	+	27	4141	c.3966G>T	c.(3964-3966)aaG>aaT	p.K1322N	ABCC1_ENST00000399408.2_Splice_Site_p.K1332N|ABCC1_ENST00000346370.5_Splice_Site_p.K1266N|ABCC1_ENST00000351154.5_Splice_Site_p.K1263N|ABCC1_ENST00000345148.5_Splice_Site_p.K1322N|ABCC1_ENST00000349029.5_Splice_Site_p.K1207N	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1322	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGGAGAAAAGGTGGGTACAC	0.597																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.e28+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						67.0	65.0	66.0					16																	16225792		2077	4220	6297	SO:0001630	splice_region_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16225792G>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3966+1G>T	16.37:g.16225792G>T						ABCC1_ENST00000345148.5_Splice_Site_p.K1322_splice|ABCC1_ENST00000349029.5_Splice_Site_p.K1207_splice|ABCC1_ENST00000399410.3_Splice_Site_p.K1322_splice|ABCC1_ENST00000351154.5_Splice_Site_p.K1263_splice|ABCC1_ENST00000346370.5_Splice_Site_p.K1266_splice	p.K1332_splice			P33527	MRP1_HUMAN			28	4171	+			1322			ABC transporter 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Splice_Site	SNP	ENST00000399410.3	37	c.3996_splice	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635087	0.67130	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.11	5.11	0.69529	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.76938	2.355	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.87578	0.991;0.996;0.996;0.991;0.99;0.998	D	0.97202	0.9865	10	0.87932	D	0	-26.8612	17.5407	0.87846	0.0:0.0:1.0:0.0	.	1207;1322;1266;1263;1322;1332	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	N	1322;1332;1266;1263;1322;1207;1006	ENSP00000382342:K1322N;ENSP00000382340:K1332N;ENSP00000263019:K1266N;ENSP00000263017:K1263N;ENSP00000263014:K1322N;ENSP00000263016:K1207N	ENSP00000263014:K1322N	K	+	3	2	ABCC1	16133293	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	9.479000	0.97929	2.387000	0.81309	0.655000	0.94253	AAG		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	Missense_Mutation	13	21	1	0	2.61681e-11	1	3.25769e-11	13	21				
ACTN3	89	broad.mit.edu	37	11	66327541	66327541	+	lincRNA	SNP	G	G	A	rs374612362	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66327541G>A	ENST00000504911.1	-	0	220				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							GGCGGGATGCGCTAGAGGTGG	0.667													G|||	4	0.000798722	0.0	0.0	5008	,	,		6172	0.0		0.0	False		,,,				2504	0.0041					ENST00000504911.1																			0															G		0,3624		0,0,1812	10.0	11.0	11.0		1530	-5.3	0.3	11		11	1,8099		0,1,4049	no	coding-synonymous	ACTN3	NM_001104.1		0,1,5861	AA,AG,GG		0.0123,0.0,0.0085		510/902	66327541	1,11723	1812	4050	5862			0							g.chr11:66327541G>A																													11.37:g.66327541G>A						ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA								0	220	-									RNA	SNP	ENST00000504911.1	37																																																																																						0.667	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			3	3	0	0	0	1	0	3	3				
USP51	158880	broad.mit.edu	37	X	55514742	55514742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55514742G>T	ENST00000500968.3	-	2	713	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(631-633)Ctg>Atg		ubiquitin specific peptidase 51							77.0	63.0	68.0					X																	55514742		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514742G>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.631C>A	X.37:g.55514742G>T	ENSP00000423333:p.Leu211Met					USP51_ENST00000586165.1_Intron	p.L211M	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	713	-			211					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.631C>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.076858	0.36662	.	.	ENSG00000247746	ENST00000500968	T	0.62941	-0.01	2.93	2.07	0.26955	Zinc finger, RING/FYVE/PHD-type (1);	0.182827	0.27677	U	0.018319	T	0.63450	0.2512	L	0.34521	1.04	0.42417	D	0.99262	D	0.69078	0.997	D	0.66847	0.947	T	0.61797	-0.6989	10	0.52906	T	0.07	.	7.4429	0.27194	0.1426:0.0:0.8574:0.0	.	211	Q70EK9	UBP51_HUMAN	M	211	ENSP00000423333:L211M	ENSP00000423333:L211M	L	-	1	2	USP51	55531467	1.000000	0.71417	0.291000	0.24904	0.800000	0.45204	5.107000	0.64603	0.644000	0.30656	-0.329000	0.08387	CTG		0.502	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		16	23	1	0	1.5739e-10	1	1.9432e-10	16	23				
PLOD2	5352	broad.mit.edu	37	3	145794589	145794589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145794589G>A	ENST00000360060.3	-	14	1771	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	PLOD2_ENST00000494950.1_Nonsense_Mutation_p.Q498*|PLOD2_ENST00000461497.1_Nonsense_Mutation_p.Q213*|PLOD2_ENST00000282903.5_Nonsense_Mutation_p.Q553*|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	532					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAAAAATCTGCCAGAGGTCA	0.289																																						ENST00000282903.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1657-1659)Cag>Tag		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						84.0	92.0	89.0					3																	145794589		2203	4285	6488	SO:0001587	stop_gained	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145794589G>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1594C>T	3.37:g.145794589G>A	ENSP00000353170:p.Gln532*					RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.Q498*|PLOD2_ENST00000461497.1_Nonsense_Mutation_p.Q213*|PLOD2_ENST00000360060.3_Nonsense_Mutation_p.Q532*	p.Q553*	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN			15	1834	-			532					B3KWS3|Q59ED2|Q8N170	Nonsense_Mutation	SNP	ENST00000360060.3	37	c.1657C>T	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	G	38	7.154345	0.98099	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	.	.	.	5.12	4.24	0.50183	.	0.110826	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-29.3237	13.7122	0.62675	0.0748:0.0:0.9252:0.0	.	.	.	.	X	213;553;532;498	.	ENSP00000282903:Q553X	Q	-	1	0	PLOD2	147277279	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.769000	0.98969	1.163000	0.42636	0.650000	0.86243	CAG		0.289	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		7	90	0	0	0	1	0	7	90				
NDUFS2	4720	broad.mit.edu	37	1	161179310	161179310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161179310C>T	ENST00000367993.3	+	6	1000	c.552C>T	c.(550-552)atC>atT	p.I184I	NDUFS2_ENST00000476409.2_Silent_p.I86I|NDUFS2_ENST00000392179.4_Silent_p.I184I	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	184					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TGAACCACATCATGGCTGTGA	0.512											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(550-552)atC>atT		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						91.0	79.0	83.0					1																	161179310		2203	4300	6503	SO:0001819	synonymous_variant	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161179310C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.552C>T	1.37:g.161179310C>T			OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	NDUFS2_ENST00000367993.3_Silent_p.I184I|NDUFS2_ENST00000476409.2_Silent_p.I86I	p.I184I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	791	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		184					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.552C>T	CCDS1224.1																																																																																				0.512	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		14	29	0	0	0	1	0	14	29				
MPP7	143098	broad.mit.edu	37	10	28358723	28358723	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28358723C>T	ENST00000375732.1	-	13	1441	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	MPP7_ENST00000540098.1_Silent_p.Q394Q|MPP7_ENST00000445954.2_Silent_p.Q269Q|MPP7_ENST00000337532.5_Silent_p.Q394Q|MPP7_ENST00000375719.3_Silent_p.Q394Q			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	394	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CGCCATAGTGCTGGGTGTCAC	0.398																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1180-1182)caG>caA		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							122.0	88.0	99.0					10																	28358723		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28358723C>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1182G>A	10.37:g.28358723C>T						MPP7_ENST00000375732.1_Silent_p.Q394Q|MPP7_ENST00000540098.1_Silent_p.Q394Q|MPP7_ENST00000445954.2_Silent_p.Q269Q|MPP7_ENST00000375719.3_Silent_p.Q394Q	p.Q394Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			14	1458	-			394			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1182G>A	CCDS7158.1																																																																																				0.398	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		11	20	0	0	0	1	0	11	20				
STAM2	10254	broad.mit.edu	37	2	153000472	153000472	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153000472T>C	ENST00000263904.4	-	7	922	c.573A>G	c.(571-573)ttA>ttG	p.L191L	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	191					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAGATGGATATAAGGATTTTG	0.318																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(571-573)ttA>ttG		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							113.0	110.0	111.0					2																	153000472		2203	4298	6501	SO:0001819	synonymous_variant	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153000472T>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.573A>G	2.37:g.153000472T>C						STAM2_ENST00000465460.1_5'UTR	p.L191L	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	7	922	-			191					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	ENST00000263904.4	37	c.573A>G	CCDS2196.1																																																																																				0.318	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		17	29	0	0	0	1	0	17	29				
ZNF43	7594	broad.mit.edu	37	19	22000714	22000714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22000714G>A	ENST00000354959.4	-	3	374	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	ZNF43_ENST00000594012.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598288.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H63Y	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCATTTCATGTCTCCTCATA	0.428																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(187-189)Cat>Tat		zinc finger protein 43							177.0	176.0	176.0					19																	22000714		2203	4300	6503	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22000714G>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.205C>T	19.37:g.22000714G>A	ENSP00000347045:p.His69Tyr					ZNF43_ENST00000598288.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.H69Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H63Y	p.H63Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	6	701	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	69			KRAB.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.187C>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	2.407	-0.336287	0.05278	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.05319	3.46	0.225	0.225	0.15325	Krueppel-associated box (1);	.	.	.	.	T	0.03959	0.0111	L	0.33245	0.995	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.47032	-0.9148	8	0.05525	T	0.97	.	.	.	.	.	69	P17038	ZNF43_HUMAN	Y	68;69	ENSP00000347045:H69Y	ENSP00000347045:H69Y	H	-	1	0	ZNF43	21792554	0.011000	0.17503	0.099000	0.21106	0.101000	0.19017	-0.091000	0.11146	0.300000	0.22699	0.305000	0.20034	CAT		0.428	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		69	93	0	0	0	1	0	69	93				
DAGLA	747	broad.mit.edu	37	11	61507019	61507019	+	Missense_Mutation	SNP	C	C	T	rs150967936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61507019C>T	ENST00000257215.5	+	17	1855	c.1739C>T	c.(1738-1740)aCg>aTg	p.T580M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	580					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGCCAGCACGCGGCTCTGG	0.657																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1738-1740)aCg>aTg		diacylglycerol lipase, alpha		C	MET/THR	0,4404		0,0,2202	133.0	118.0	123.0		1739	3.2	1.0	11	dbSNP_134	123	2,8596	2.2+/-6.3	0,2,4297	no	missense	DAGLA	NM_006133.2	81	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	580/1043	61507019	2,13000	2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61507019C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1739C>T	11.37:g.61507019C>T	ENSP00000257215:p.Thr580Met						p.T580M	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	17	1855	+			580					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1739C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595980	0.46318	0.0	2.33E-4	ENSG00000134780	ENST00000257215	T	0.24908	1.83	4.23	3.16	0.36331	.	0.304896	0.34777	N	0.003692	T	0.12433	0.0302	N	0.14661	0.345	0.37808	D	0.92794	P	0.44006	0.824	B	0.35182	0.197	T	0.10660	-1.0620	10	0.52906	T	0.07	-19.4666	9.5473	0.39288	0.4875:0.5125:0.0:0.0	.	580	Q9Y4D2	DGLA_HUMAN	M	580	ENSP00000257215:T580M	ENSP00000257215:T580M	T	+	2	0	DAGLA	61263595	0.974000	0.33945	0.979000	0.43373	0.988000	0.76386	2.204000	0.42761	2.076000	0.62316	0.462000	0.41574	ACG		0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		21	44	0	0	0	1	0	21	44				
ELMOD3	84173	broad.mit.edu	37	2	85617352	85617352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617352C>T	ENST00000409890.2	+	13	1574	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Missense_Mutation_p.R303W|ELMOD3_ENST00000409344.3_Missense_Mutation_p.R303W|ELMOD3_ENST00000409013.3_Missense_Mutation_p.R303W|ELMOD3_ENST00000315658.7_Missense_Mutation_p.R303W			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	303	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAGGACACAGCGGAAGACCAT	0.562																																						ENST00000315658.7																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(907-909)Cgg>Tgg		ELMO/CED-12 domain containing 3							124.0	95.0	105.0					2																	85617352		2203	4300	6503	SO:0001583	missense	84173				phagocytosis	cytoskeleton		g.chr2:85617352C>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.907C>T	2.37:g.85617352C>T	ENSP00000386304:p.Arg303Trp					ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Missense_Mutation_p.R303W|ELMOD3_ENST00000393852.4_Missense_Mutation_p.R303W|ELMOD3_ENST00000409890.2_Missense_Mutation_p.R303W|ELMOD3_ENST00000409013.3_Missense_Mutation_p.R303W	p.R303W	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN			11	1166	+			303			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	c.907C>T	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826236	0.71143	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.08	3.2	0.36748	Engulfment/cell motility, ELMO (2);	0.502903	0.21880	N	0.067741	T	0.29028	0.0721	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.47705	0.555;0.545	T	0.02860	-1.1101	10	0.72032	D	0.01	-0.1802	7.9858	0.30212	0.3224:0.5211:0.1565:0.0	.	303;303	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	W	303	ENSP00000387139:R303W;ENSP00000386304:R303W;ENSP00000386248:R303W;ENSP00000377434:R303W;ENSP00000318264:R303W	ENSP00000318264:R303W	R	+	1	2	ELMOD3	85470863	1.000000	0.71417	0.981000	0.43875	0.949000	0.60115	1.297000	0.33400	0.493000	0.27837	0.563000	0.77884	CGG		0.562	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		4	32	0	0	0	1	0	4	32				
MYBPC2	4606	broad.mit.edu	37	19	50940757	50940757	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50940757G>T	ENST00000357701.5	+	6	542	c.491G>T	c.(490-492)aGt>aTt	p.S164I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	164					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCTGGGCAGAGTCTAGAAAGC	0.582																																						ENST00000357701.5																			0				breast(1)	1						c.(490-492)aGt>aTt		myosin binding protein C, fast type							64.0	59.0	61.0					19																	50940757		1914	4119	6033	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50940757G>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.491G>T	19.37:g.50940757G>T	ENSP00000350332:p.Ser164Ile						p.S164I	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	6	542	+		all_neural(266;0.057)	164					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.491G>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	0.027	-1.360383	0.01245	.	.	ENSG00000086967	ENST00000357701	T	0.53640	0.61	3.53	-2.06	0.07298	.	0.791890	0.09875	U	0.744401	T	0.20129	0.0484	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15065	-1.0450	10	0.32370	T	0.25	.	1.4635	0.02401	0.1192:0.1848:0.32:0.376	.	164	Q14324	MYPC2_HUMAN	I	164	ENSP00000350332:S164I	ENSP00000350332:S164I	S	+	2	0	MYBPC2	55632569	0.010000	0.17322	0.008000	0.14137	0.816000	0.46133	-0.126000	0.10563	-0.041000	0.13558	0.401000	0.26515	AGT		0.582	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		6	7	1	0	2.0095e-06	1	2.31757e-06	6	7				
SPTLC1	10558	broad.mit.edu	37	9	94842325	94842325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94842325C>A	ENST00000262554.2	-	5	405	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SPTLC1_ENST00000337841.4_Nonsense_Mutation_p.G134*|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	134					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CCTCTGGGTCCACAAGTCCCC	0.358																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(400-402)Gga>Tga		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						97.0	94.0	95.0					9																	94842325		2203	4300	6503	SO:0001587	stop_gained	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94842325C>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.400G>T	9.37:g.94842325C>A	ENSP00000262554:p.Gly134*					SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Nonsense_Mutation_p.G134*	p.G134*	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			5	405	-			134					A8K681|Q5VWB4|Q96IX6	Nonsense_Mutation	SNP	ENST00000262554.2	37	c.400G>T	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594130	0.86953	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.3402	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	134	.	ENSP00000262554:G134X	G	-	1	0	SPTLC1	93882146	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.691000	0.68249	2.832000	0.97577	0.655000	0.94253	GGA		0.358	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		5	73	1	0	0.00116845	1	0.00124821	5	73				
PGBD1	84547	broad.mit.edu	37	6	28268753	28268753	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268753G>A	ENST00000405948.2	+	7	1542	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	PGBD1_ENST00000259883.3_Silent_p.Q374Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	374						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGAGATCCAGCCTGCTCAAA	0.433																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1120-1122)caG>caA		piggyBac transposable element derived 1							72.0	77.0	75.0					6																	28268753		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268753G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1122G>A	6.37:g.28268753G>A						PGBD1_ENST00000259883.3_Silent_p.Q374Q	p.Q374Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1542	+			374					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.1122G>A	CCDS4648.1																																																																																				0.433	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			26	44	0	0	0	1	0	26	44				
ARID1B	57492	broad.mit.edu	37	6	157528220	157528220	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528220A>G	ENST00000350026.5	+	19	5907	c.5906A>G	c.(5905-5907)cAc>cGc	p.H1969R	ARID1B_ENST00000275248.4_Missense_Mutation_p.H1964R|ARID1B_ENST00000367148.1_Missense_Mutation_p.H2022R|ARID1B_ENST00000346085.5_Missense_Mutation_p.H1982R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1969					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTCTTCTTCACCACGAGCAT	0.537																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5944-5946)cAc>cGc		AT rich interactive domain 1B (SWI1-like)							103.0	105.0	104.0					6																	157528220		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528220A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5906A>G	6.37:g.157528220A>G	ENSP00000055163:p.His1969Arg					ARID1B_ENST00000350026.5_Missense_Mutation_p.H1969R|ARID1B_ENST00000275248.4_Missense_Mutation_p.H1964R|ARID1B_ENST00000367148.1_Missense_Mutation_p.H2022R	p.H1982R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5946	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1969					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5945A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866396	0.51588	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.28	4.09	0.47781	.	0.045379	0.85682	D	0.000000	T	0.38639	0.1048	M	0.69248	2.105	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;P;P	0.63192	0.912;0.857;0.857	T	0.39333	-0.9619	10	0.87932	D	0	.	12.464	0.55747	0.8597:0.1402:0.0:0.0	.	1969;1982;1964	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1982;1969;2022;1964;1491	ENSP00000344546:H1982R;ENSP00000055163:H1969R;ENSP00000356116:H2022R;ENSP00000275248:H1964R;ENSP00000412835:H1491R	ENSP00000275248:H1964R	H	+	2	0	ARID1B	157569912	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.461000	0.80834	0.915000	0.36847	0.460000	0.39030	CAC		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	103	0	0	0	1	0	4	103				
FOCAD	54914	broad.mit.edu	37	9	20929556	20929556	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20929556T>C	ENST00000380249.1	+	29	3642	c.3278T>C	c.(3277-3279)tTa>tCa	p.L1093S	FOCAD_ENST00000338382.6_Missense_Mutation_p.L1093S|FOCAD_ENST00000605086.1_Missense_Mutation_p.L529S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1093						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GGCCTTGCTTTAGGGATGTTT	0.428																																						ENST00000380249.1																			0											c.(3277-3279)tTa>tCa		focadhesin							128.0	102.0	111.0					9																	20929556		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20929556T>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3278T>C	9.37:g.20929556T>C	ENSP00000369599:p.Leu1093Ser					FOCAD_ENST00000605086.1_Missense_Mutation_p.L529S|FOCAD_ENST00000338382.6_Missense_Mutation_p.L1093S	p.L1093S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			29	3642	+			1093					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3278T>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867944	0.91587	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.80738	-1.41;-1.41	6.06	6.06	0.98353	Armadillo-type fold (1);	0.069308	0.56097	D	0.000024	D	0.88481	0.6448	M	0.66939	2.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.69307	0.963	D	0.89300	0.3625	10	0.72032	D	0.01	-18.0896	16.6127	0.84892	0.0:0.0:0.0:1.0	.	1093	Q5VW36	K1797_HUMAN	S	1093	ENSP00000369599:L1093S;ENSP00000344307:L1093S	ENSP00000344307:L1093S	L	+	2	0	KIAA1797	20919556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.477000	0.81069	2.322000	0.78497	0.528000	0.53228	TTA		0.428	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		24	53	0	0	0	1	0	24	53				
SNRNP200	23020	broad.mit.edu	37	2	96953207	96953207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96953207G>A	ENST00000323853.5	-	26	3531	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1152	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCGTACAGACGCTCAAAGGGG	0.512																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(3454-3456)Cgt>Tgt		small nuclear ribonucleoprotein 200kDa (U5)							206.0	186.0	193.0					2																	96953207		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96953207G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3454C>T	2.37:g.96953207G>A	ENSP00000317123:p.Arg1152Cys					SNRNP200_ENST00000349783.5_Intron	p.R1152C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			26	3531	-			1152			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3454C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044067	0.93685	.	.	ENSG00000144028	ENST00000323853	T	0.61158	0.13	5.17	5.17	0.71159	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.80747	0.4682	H	0.94423	3.535	0.80722	D	1	D	0.64830	0.994	P	0.59012	0.85	D	0.86389	0.1734	10	0.87932	D	0	-10.435	17.6026	0.88029	0.0:0.0:1.0:0.0	.	1152	O75643	U520_HUMAN	C	1152	ENSP00000317123:R1152C	ENSP00000317123:R1152C	R	-	1	0	SNRNP200	96316934	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.703000	0.84585	2.686000	0.91538	0.462000	0.41574	CGT		0.512	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		15	88	0	0	0	1	0	15	88				
POU2F3	25833	broad.mit.edu	37	11	120175899	120175899	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175899G>A	ENST00000543440.2	+	7	755	c.605G>A	c.(604-606)cGc>cAc	p.R202H	POU2F3_ENST00000260264.4_Missense_Mutation_p.R204H	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	202	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AAGCAGAGGCGCATTAAGCTG	0.552																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(610-612)cGc>cAc		POU class 2 homeobox 3							77.0	82.0	80.0					11																	120175899		2203	4299	6502	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120175899G>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.605G>A	11.37:g.120175899G>A	ENSP00000441687:p.Arg202His					POU2F3_ENST00000543440.2_Missense_Mutation_p.R202H	p.R204H	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	7	645	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	202			POU-specific.		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.611G>A	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	36	5.791426	0.96945	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620	D;D;D	0.90133	-2.62;-2.62;-2.62	6.16	6.16	0.99307	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96100	0.9068	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	156;202	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	H	204;202;156	ENSP00000441687:R204H;ENSP00000260264:R202H;ENSP00000435738:R156H	ENSP00000260264:R202H	R	+	2	0	POU2F3	119681109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGC		0.552	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			5	76	0	0	0	1	0	5	76				
EPHA6	285220	broad.mit.edu	37	3	97367132	97367132	+	Silent	SNP	C	C	T	rs370311700	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97367132C>T	ENST00000514100.1	+	13	1397	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	EPHA6_ENST00000502694.1_Silent_p.D321D|EPHA6_ENST00000389672.5_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTCATAGGACCTCTTCCAAA	0.343													C|||	5	0.000998403	0.0	0.0	5008	,	,		17033	0.005		0.0	False		,,,				2504	0.0					ENST00000514100.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1153-1155)gaC>gaT		EPH receptor A6		C	,	2,3636		0,2,1817	104.0	96.0	98.0		,963	0.5	0.0	3		98	0,8172		0,0,4086	no	intron,coding-synonymous	EPHA6	NM_001080448.2,NM_173655.2	,	0,2,5903	TT,TC,CC		0.0,0.055,0.0169	,	,321/335	97367132	2,11808	1819	4086	5905	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97367132C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.1155C>T	3.37:g.97367132C>T						EPHA6_ENST00000502694.1_Silent_p.D321D|EPHA6_ENST00000389672.5_Intron	p.D385D	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN			13	1397	+			0			Fibronectin type-III 1.		D6RAL5	Silent	SNP	ENST00000514100.1	37	c.1155C>T																																																																																					0.343	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		10	35	0	0	0	1	0	10	35				
TRA2A	29896	broad.mit.edu	37	7	23545848	23545848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545848C>A	ENST00000297071.4	-	6	895	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C	TRA2A_ENST00000474586.1_5'Flank|TRA2A_ENST00000538367.1_Missense_Mutation_p.G126C|TRA2A_ENST00000392502.4_Missense_Mutation_p.G126C	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	227	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ccacctccacctccaccgccg	0.448																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(679-681)Ggt>Tgt		transformer 2 alpha homolog (Drosophila)							57.0	56.0	56.0					7																	23545848		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23545848C>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.679G>T	7.37:g.23545848C>A	ENSP00000297071:p.Gly227Cys					TRA2A_ENST00000538367.1_Missense_Mutation_p.G126C|TRA2A_ENST00000392502.4_Missense_Mutation_p.G126C	p.G227C	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			6	895	-			227			Arg/Ser-rich (RS2 domain).		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.679G>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306091	0.60305	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.77750	-1.12;-1.12;-1.12	5.33	5.33	0.75918	.	0.273076	0.36101	N	0.002792	D	0.84397	0.5463	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.83227	-0.0065	10	0.38643	T	0.18	-1.6139	17.8602	0.88779	0.0:1.0:0.0:0.0	.	227	Q13595	TRA2A_HUMAN	C	227;126;126	ENSP00000297071:G227C;ENSP00000376290:G126C;ENSP00000441116:G126C	ENSP00000297071:G227C	G	-	1	0	TRA2A	23512373	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.259000	0.65485	2.499000	0.84300	0.585000	0.79938	GGT		0.448	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		13	33	1	0	9.31168e-06	1	1.06029e-05	13	33				
ZNF665	79788	broad.mit.edu	37	19	53668654	53668654	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668654C>A	ENST00000600412.1	-	2	1009	c.894G>T	c.(892-894)aaG>aaT	p.K298N	ZNF665_ENST00000396424.3_Missense_Mutation_p.K363N|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCGCCGATGCTTTGCAAGGT	0.418																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(892-894)aaG>aaT		zinc finger protein 665							106.0	106.0	106.0					19																	53668654		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668654C>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.894G>T	19.37:g.53668654C>A	ENSP00000469154:p.Lys298Asn					ZNF665_ENST00000396424.3_Missense_Mutation_p.K363N	p.K298N			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1009	-			298					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.894G>T		.	.	.	.	.	.	.	.	.	.	C	0.014	-1.571787	0.00895	.	.	ENSG00000197497	ENST00000396424	T	0.20598	2.06	2.94	-5.88	0.02290	.	.	.	.	.	T	0.10895	0.0266	L	0.35487	1.065	0.09310	N	0.999997	B	0.28998	0.23	B	0.31614	0.133	T	0.07849	-1.0751	9	0.17832	T	0.49	.	1.7225	0.02915	0.3922:0.3091:0.0989:0.1997	.	363	Q9H7R5-2	.	N	363	ENSP00000379702:K363N	ENSP00000379702:K363N	K	-	3	2	ZNF665	58360466	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-10.899000	0.00005	-4.364000	0.00054	-0.436000	0.05848	AAG		0.418	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		9	56	1	0	3.07112e-06	1	3.52574e-06	9	56				
PFKFB3	5209	broad.mit.edu	37	10	6255642	6255642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6255642G>A	ENST00000379775.4	+	2	463	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	PFKFB3_ENST00000379782.3_Missense_Mutation_p.A45T|PFKFB3_ENST00000536985.1_Missense_Mutation_p.A25T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A45T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A45T|PFKFB3_ENST00000317350.4_Missense_Mutation_p.A45T|PFKFB3_ENST00000379789.4_Missense_Mutation_p.A25T|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A59T	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	45	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GGGCCTCCCCGCCCGGGGCAA	0.597																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(133-135)Gcc>Acc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							151.0	129.0	137.0					10																	6255642		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6255642G>A		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.133G>A	10.37:g.6255642G>A	ENSP00000369100:p.Ala45Thr					PFKFB3_ENST00000317350.4_Missense_Mutation_p.A45T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A45T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A45T|PFKFB3_ENST00000379789.4_Missense_Mutation_p.A25T|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A59T|PFKFB3_ENST00000379782.3_Missense_Mutation_p.A45T|PFKFB3_ENST00000536985.1_Missense_Mutation_p.A25T	p.A45T	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			2	463	+			45			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.133G>A	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500733	0.85176	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.4	5.4	0.78164	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.89795	0.6818	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.973;0.998	D	0.92818	0.6270	9	0.87932	D	0	-14.1555	19.2541	0.93938	0.0:0.0:1.0:0.0	.	59;45;45;25	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	T	25;25;59;45;45;45;45;45;45	.	ENSP00000369105:A45T	A	+	1	0	PFKFB3	6295648	1.000000	0.71417	0.946000	0.38457	0.218000	0.24690	9.390000	0.97246	2.541000	0.85698	0.558000	0.71614	GCC		0.597	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			39	72	0	0	0	1	0	39	72				
DIRAS1	148252	broad.mit.edu	37	19	2717757	2717757	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2717757G>A	ENST00000323469.4	-	2	231	c.48C>T	c.(46-48)ggC>ggT	p.G16G	DIRAS1_ENST00000585334.1_Silent_p.G16G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	16					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCACGCCGCCCGCCCCGA	0.682																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(46-48)ggC>ggT		DIRAS family, GTP-binding RAS-like 1							49.0	46.0	47.0					19																	2717757		2203	4300	6503	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717757G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.48C>T	19.37:g.2717757G>A						DIRAS1_ENST00000585334.1_Silent_p.G16G	p.G16G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	231	-			16						Silent	SNP	ENST00000323469.4	37	c.48C>T	CCDS12092.1																																																																																				0.682	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			12	22	0	0	0	1	0	12	22				
BRPF3	27154	broad.mit.edu	37	6	36178155	36178155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178155C>T	ENST00000357641.6	+	6	2282	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	BRPF3_ENST00000339717.7_Nonsense_Mutation_p.R677*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.R677*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	677					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AATTTTCCACCGAGCAGCTGT	0.572																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2029-2031)Cga>Tga		bromodomain and PHD finger containing, 3							53.0	57.0	55.0					6																	36178155		2203	4300	6503	SO:0001587	stop_gained	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36178155C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2029C>T	6.37:g.36178155C>T	ENSP00000350267:p.Arg677*					BRPF3_ENST00000534694.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.R677*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.R677*	p.R677*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			6	2282	+			677					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Nonsense_Mutation	SNP	ENST00000357641.6	37	c.2029C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	38	6.790314	0.97841	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000394572	.	.	.	5.87	5.87	0.94306	.	0.144445	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	.	.	.	X	677;677;677;677;677;677;91	.	ENSP00000345419:R677X	R	+	1	2	BRPF3	36286133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.354000	0.44098	2.785000	0.95823	0.655000	0.94253	CGA		0.572	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		17	34	0	0	0	1	0	17	34				
PMF1	11243	broad.mit.edu	37	1	156202117	156202117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156202117G>T	ENST00000368277.3	+	2	177	c.168G>T	c.(166-168)caG>caT	p.Q56H	PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.Q56H|PMF1_ENST00000368273.4_Intron|PMF1_ENST00000567140.1_Missense_Mutation_p.Q56H|PMF1_ENST00000565805.1_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.Q56H|PMF1_ENST00000368279.3_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.Q56H	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CCAGCTACCAGAGATTCACTG	0.537																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(166-168)caG>caT		polyamine-modulated factor 1							170.0	169.0	169.0					1																	156202117		2203	4300	6503	SO:0001583	missense	11243							g.chr1:156202117G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368277.3:c.168G>T	1.37:g.156202117G>T	ENSP00000357260:p.Gln56His					PMF1_ENST00000466489.1_3'UTR|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.Q56H|PMF1_ENST00000368279.3_Missense_Mutation_p.Q56H|PMF1_ENST00000368273.4_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.Q56H|PMF1_ENST00000567140.1_Missense_Mutation_p.Q56H|PMF1_ENST00000565805.1_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.Q56H	p.Q56H	NM_007221.3	NP_009152.2					2	177	+	Hepatocellular(266;0.158)								Missense_Mutation	SNP	ENST00000368277.3	37	c.168G>T	CCDS30886.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548454	0.65311	.	.	ENSG00000160783	ENST00000368279;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T	0.48201	0.83;1.49;0.82;0.83	5.68	5.68	0.88126	.	0.569097	0.17820	N	0.160918	T	0.50154	0.1599	M	0.62723	1.935	0.27846	N	0.940914	D;D;P	0.61697	0.989;0.99;0.641	P;P;B	0.58172	0.834;0.804;0.365	T	0.46205	-0.9208	10	0.40728	T	0.16	-2.7275	15.296	0.73910	0.0:0.0:1.0:0.0	.	56;56;56	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	H	56	ENSP00000357262:Q56H;ENSP00000357260:Q56H;ENSP00000357259:Q56H;ENSP00000324909:Q56H	ENSP00000324909:Q56H	Q	+	3	2	PMF1	154468741	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.451000	0.60047	2.689000	0.91719	0.655000	0.94253	CAG		0.537	PMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040860.1	NM_007221		16	182	1	0	1.02788e-11	1	1.28409e-11	16	182				
GPR101	83550	broad.mit.edu	37	X	136113612	136113612	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136113612G>A	ENST00000298110.1	-	1	221	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGTCGGTGACGAGGAGGTTAA	0.617																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(220-222)ctC>ctT		G protein-coupled receptor 101							58.0	57.0	57.0					X																	136113612		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113612G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.222C>T	X.37:g.136113612G>A							p.L74L	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	221	-	Acute lymphoblastic leukemia(192;0.000127)		74					Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.222C>T	CCDS14662.1																																																																																				0.617	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			11	33	0	0	0	1	0	11	33				
MCCC2	64087	broad.mit.edu	37	5	70900290	70900290	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70900290G>A	ENST00000340941.6	+	6	748	c.619G>A	c.(619-621)Gca>Aca	p.A207T	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.A207T|MCCC2_ENST00000509358.2_Missense_Mutation_p.A207T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	207	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAAAATATTGCACAGGTAAT	0.378																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(619-621)Gca>Aca		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						101.0	95.0	98.0					5																	70900290		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70900290G>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.619G>A	5.37:g.70900290G>A	ENSP00000343657:p.Ala207Thr					MCCC2_ENST00000323375.8_Missense_Mutation_p.A207T|MCCC2_ENST00000509358.2_Missense_Mutation_p.A207T|MCCC2_ENST00000510895.2_3'UTR	p.A207T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	6	748	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	207			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.619G>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444555	0.43429	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375	D;D;D	0.98028	-4.61;-4.61;-4.67	5.42	-5.14	0.02875	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.709600	0.14823	N	0.296343	D	0.94023	0.8085	L	0.58583	1.82	0.20821	N	0.999846	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.17979	0.008;0.02;0.007	D	0.86536	0.1825	10	0.66056	D	0.02	0.0417	3.8076	0.08783	0.1977:0.1045:0.499:0.1989	.	207;76;207	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	T	207	ENSP00000343657:A207T;ENSP00000420994:A207T;ENSP00000327308:A207T	ENSP00000327308:A207T	A	+	1	0	MCCC2	70936046	0.002000	0.14202	0.433000	0.26760	0.922000	0.55478	-0.276000	0.08514	-0.418000	0.07450	-0.484000	0.04775	GCA		0.378	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			17	28	0	0	0	1	0	17	28				
LEPR	3953	broad.mit.edu	37	1	66067541	66067541	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66067541T>G	ENST00000349533.6	+	10	1486	c.1301T>G	c.(1300-1302)aTc>aGc	p.I434S	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.I434S|LEPR_ENST00000371059.3_Missense_Mutation_p.I434S|LEPR_ENST00000344610.8_Missense_Mutation_p.I434S|LEPR_ENST00000371058.1_Missense_Mutation_p.I434S	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATATCAATATCTCATGTGAA	0.294																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1300-1302)aTc>aGc		leptin receptor							87.0	88.0	88.0					1																	66067541		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067541T>G	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1301T>G	1.37:g.66067541T>G	ENSP00000330393:p.Ile434Ser					LEPR_ENST00000371058.1_Missense_Mutation_p.I434S|LEPR_ENST00000371060.3_Missense_Mutation_p.I434S|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.I434S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.I434S	p.I434S	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	10	1486	+			434					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1301T>G	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509593	0.64522	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.0	5.0	0.66597	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.70230	-0.4929	10	0.87932	D	0	-20.0758	14.7097	0.69222	0.0:0.0:0.0:1.0	.	434;434;434	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	S	434	ENSP00000340884:I434S;ENSP00000330393:I434S;ENSP00000360099:I434S;ENSP00000360098:I434S;ENSP00000360097:I434S	ENSP00000340884:I434S	I	+	2	0	LEPR	65840129	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.810000	0.69179	1.886000	0.54624	0.377000	0.23210	ATC		0.294	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		5	63	0	0	0	1	0	5	63				
BIRC6	57448	broad.mit.edu	37	2	32702460	32702460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32702460C>T	ENST00000421745.2	+	35	7011	c.6877C>T	c.(6877-6879)Cgt>Tgt	p.R2293C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2293					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTCGTTTACGTCGGACAGC	0.338																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(6877-6879)Cgt>Tgt		baculoviral IAP repeat containing 6							126.0	122.0	124.0					2																	32702460		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32702460C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6877C>T	2.37:g.32702460C>T	ENSP00000393596:p.Arg2293Cys						p.R2293C	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			35	7011	+	Acute lymphoblastic leukemia(172;0.155)		2293					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6877C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183726	0.78677	.	.	ENSG00000115760	ENST00000421745	T	0.79454	-1.27	5.8	5.8	0.92144	.	0.066227	0.64402	D	0.000011	D	0.85318	0.5669	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85690	0.1306	10	0.72032	D	0.01	.	20.0716	0.97726	0.0:1.0:0.0:0.0	.	2293	Q9NR09	BIRC6_HUMAN	C	2293	ENSP00000393596:R2293C	ENSP00000393596:R2293C	R	+	1	0	BIRC6	32555964	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.747000	0.55134	2.741000	0.93983	0.585000	0.79938	CGT		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		27	77	0	0	0	1	0	27	77				
FBN1	2200	broad.mit.edu	37	15	48829911	48829911	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48829911G>T	ENST00000316623.5	-	7	1088	c.633C>A	c.(631-633)gcC>gcA	p.A211A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	211	TB 1.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCCGACTGTGGCACAGCAGA	0.577																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(631-633)gcC>gcA		fibrillin 1							77.0	77.0	77.0					15																	48829911		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48829911G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.633C>A	15.37:g.48829911G>T							p.A211A	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	7	1088	-		all_lung(180;0.00279)	211			TB 1.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.633C>A	CCDS32232.1																																																																																				0.577	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			12	83	1	0	4.3838e-07	1	5.12524e-07	12	83				
DGCR8	54487	broad.mit.edu	37	22	20079041	20079041	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20079041C>T	ENST00000351989.3	+	6	1819	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	DGCR8_ENST00000407755.1_Missense_Mutation_p.R464W|DGCR8_ENST00000383024.2_Missense_Mutation_p.R464W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	464	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTGGGCTGAGCGGCGGCAATT	0.488																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1390-1392)Cgg>Tgg		DGCR8 microprocessor complex subunit							151.0	170.0	163.0					22																	20079041		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079041C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1390C>T	22.37:g.20079041C>T	ENSP00000263209:p.Arg464Trp					DGCR8_ENST00000407755.1_Missense_Mutation_p.R464W|DGCR8_ENST00000383024.2_Missense_Mutation_p.R464W	p.R464W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			6	1819	+	Colorectal(54;0.0993)		464			Necessary for heme-binding and pri-miRNA processing.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1390C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765586	0.69878	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.42131	1.09;0.98;0.98	4.62	0.958	0.19619	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.70016	0.895;0.967	T	0.53809	-0.8386	10	0.87932	D	0	-4.2701	7.6168	0.28163	0.5433:0.3338:0.123:0.0	.	464;464	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	W	464	ENSP00000263209:R464W;ENSP00000372488:R464W;ENSP00000384726:R464W	ENSP00000263209:R464W	R	+	1	2	DGCR8	18459041	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	2.316000	0.43761	0.509000	0.28195	0.591000	0.81541	CGG		0.488	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			72	132	0	0	0	1	0	72	132				
C6	729	broad.mit.edu	37	5	41176734	41176734	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41176734G>T	ENST00000263413.3	-	8	1275	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	C6_ENST00000337836.5_Silent_p.V337V|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	337	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTCAAAAAGACATCAGAAA	0.383																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1009-1011)gtC>gtA		complement component 6							129.0	127.0	128.0					5																	41176734		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41176734G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1011C>A	5.37:g.41176734G>T						C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.V337V	p.V337V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			8	1275	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	337			MACPF.			Silent	SNP	ENST00000263413.3	37	c.1011C>A	CCDS3936.1																																																																																				0.383	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			8	81	1	0	0.00448238	1	0.00472561	8	81				
HTR5A	3361	broad.mit.edu	37	7	154863181	154863181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863181A>G	ENST00000287907.2	+	1	1148	c.572A>G	c.(571-573)gAg>gGg	p.E191G	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	191					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GGCAGCGAGGAGTGCCAGGTA	0.607																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(571-573)gAg>gGg		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							85.0	68.0	73.0					7																	154863181		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863181A>G		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.572A>G	7.37:g.154863181A>G	ENSP00000287907:p.Glu191Gly					AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	p.E191G	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1148	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	191					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.572A>G	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775546	0.49786	.	.	ENSG00000157219	ENST00000287907	T	0.37235	1.21	4.77	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.178332	0.50627	D	0.000101	T	0.31295	0.0792	L	0.50919	1.6	0.42968	D	0.994421	B	0.26147	0.143	B	0.34038	0.174	T	0.05649	-1.0872	10	0.23891	T	0.37	.	7.9505	0.30012	0.7223:0.1422:0.0:0.1355	.	191	P47898	5HT5A_HUMAN	G	191	ENSP00000287907:E191G	ENSP00000287907:E191G	E	+	2	0	HTR5A	154494114	1.000000	0.71417	0.523000	0.27875	0.922000	0.55478	3.336000	0.52113	0.334000	0.23590	0.533000	0.62120	GAG		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		7	31	0	0	0	1	0	7	31				
CUX2	23316	broad.mit.edu	37	12	111785522	111785522	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785522G>T	ENST00000261726.6	+	22	4008	c.3854G>T	c.(3853-3855)aGc>aTc	p.S1285I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1285					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGAACAGCACACCCCTG	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3853-3855)aGc>aTc		cut-like homeobox 2							53.0	63.0	60.0					12																	111785522		2115	4228	6343	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785522G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3854G>T	12.37:g.111785522G>T	ENSP00000261726:p.Ser1285Ile						p.S1285I	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4008	+			1285					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3854G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	0.103	-1.149790	0.01714	.	.	ENSG00000111249	ENST00000261726	T	0.45276	0.9	4.52	-6.77	0.01727	.	2.397480	0.01595	N	0.021770	T	0.16599	0.0399	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11641	-1.0579	10	0.21014	T	0.42	0.3875	4.5708	0.12208	0.1011:0.2374:0.5002:0.1614	.	1285	O14529	CUX2_HUMAN	I	1285	ENSP00000261726:S1285I	ENSP00000261726:S1285I	S	+	2	0	CUX2	110269905	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.778000	0.01778	-1.664000	0.01479	-0.259000	0.10710	AGC		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	14	1	0	5.50884e-06	1	6.28354e-06	12	14				
SLC10A6	345274	broad.mit.edu	37	4	87752964	87752964	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87752964T>C	ENST00000273905.6	-	3	713	c.566A>G	c.(565-567)cAa>cGa	p.Q189R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	189					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATTTTGGATTGTTTTGGCCA	0.473																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(565-567)cAa>cGa		solute carrier family 10 (sodium/bile acid cotransporter), member 6							128.0	100.0	110.0					4																	87752964		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87752964T>C	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.566A>G	4.37:g.87752964T>C	ENSP00000273905:p.Gln189Arg					SLC10A6_ENST00000505535.1_5'UTR	p.Q189R	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	3	713	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	189					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.566A>G	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040402	0.35989	.	.	ENSG00000145283	ENST00000273905	T	0.10960	2.82	4.88	2.4	0.29515	.	0.197268	0.34700	N	0.003753	T	0.15912	0.0383	L	0.52905	1.665	0.26064	N	0.981311	P	0.43750	0.816	P	0.53102	0.718	T	0.08269	-1.0730	10	0.22109	T	0.4	0.0513	6.1467	0.20289	0.0:0.0875:0.1634:0.7491	.	189	Q3KNW5	SOAT_HUMAN	R	189	ENSP00000273905:Q189R	ENSP00000273905:Q189R	Q	-	2	0	SLC10A6	87971988	1.000000	0.71417	0.451000	0.26982	0.853000	0.48598	2.921000	0.48852	0.303000	0.22785	0.529000	0.55759	CAA		0.473	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		9	11	0	0	0	1	0	9	11				
RTF1	23168	broad.mit.edu	37	15	41749993	41749993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41749993C>T	ENST00000389629.4	+	4	593	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	194	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGACAGGGCCCGTCTGGAA	0.478																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(580-582)gCc>gTc		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							159.0	154.0	155.0					15																	41749993		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41749993C>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.581C>T	15.37:g.41749993C>T	ENSP00000374280:p.Ala194Val						p.A194V	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	593	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	194			Glu-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.581C>T	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	32	5.182167	0.94885	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	L	0.50333	1.59	0.80722	D	1	P	0.43094	0.799	B	0.33799	0.17	T	0.54583	-0.8272	9	0.38643	T	0.18	-10.3926	19.7706	0.96363	0.0:1.0:0.0:0.0	.	194	Q92541	RTF1_HUMAN	V	194	.	ENSP00000374280:A194V	A	+	2	0	RTF1	39537285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.697000	0.92050	0.655000	0.94253	GCC		0.478	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		12	108	0	0	0	1	0	12	108				
KRTCAP3	200634	broad.mit.edu	37	2	27666108	27666108	+	Silent	SNP	G	G	A	rs562546982		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27666108G>A	ENST00000543753.1	+	4	488	c.441G>A	c.(439-441)ccG>ccA	p.P147P	KRTCAP3_ENST00000407293.1_Silent_p.P129P|KRTCAP3_ENST00000288873.3_Silent_p.P147P	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	147						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGAGGGGCCGGGACATACTG	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20136	0.0		0.0	False		,,,				2504	0.0					ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.(439-441)ccG>ccA		keratinocyte associated protein 3							52.0	52.0	52.0					2																	27666108		2203	4300	6503	SO:0001819	synonymous_variant	200634					integral to membrane		g.chr2:27666108G>A	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.441G>A	2.37:g.27666108G>A						KRTCAP3_ENST00000407293.1_Silent_p.P129P|KRTCAP3_ENST00000288873.3_Silent_p.P147P	p.P147P	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN			4	488	+	Acute lymphoblastic leukemia(172;0.155)		147					B7ZL49|Q6UW42|Q8IWS5	Silent	SNP	ENST00000543753.1	37	c.441G>A	CCDS1754.1																																																																																				0.542	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		27	33	0	0	0	1	0	27	33				
IMPDH1	3614	broad.mit.edu	37	7	128038586	128038586	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128038586G>T	ENST00000480861.1	-	7	763	c.686C>A	c.(685-687)cCt>cAt	p.P229H	IMPDH1_ENST00000378717.4_Missense_Mutation_p.P250H|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P286H|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P209H|IMPDH1_ENST00000338791.6_Missense_Mutation_p.P319H|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P209H|IMPDH1_ENST00000354269.5_Missense_Mutation_p.P309H|IMPDH1_ENST00000470772.1_Missense_Mutation_p.P233H|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P283H	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GGAGGCCAGAGGGTAGTCTCG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(955-957)cCt>cAt		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						73.0	78.0	76.0					7																	128038586		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038586G>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.686C>A	7.37:g.128038586G>T	ENSP00000420185:p.Pro229His		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_ENST00000354269.5_Missense_Mutation_p.P309H|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P229H|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P283H|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P209H|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P209H|IMPDH1_ENST00000470772.1_Missense_Mutation_p.P233H|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P286H|IMPDH1_ENST00000378717.4_Missense_Mutation_p.P250H	p.P319H	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			10	1306	-			234						Missense_Mutation	SNP	ENST00000480861.1	37	c.956C>A	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954080	0.92726	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;T	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.34	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	H	0.97265	3.97	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.993;0.997;0.994;0.996;0.996;0.999;0.999;0.995	D	0.96875	0.9642	10	0.87932	D	0	-11.616	16.4619	0.84059	0.0:0.0:1.0:0.0	.	286;229;234;250;309;283;319;209	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	H	286;319;209;309;250;283;209;233;229;250	ENSP00000399400:P286H;ENSP00000345096:P319H;ENSP00000420803:P209H;ENSP00000346219:P309H;ENSP00000367989:P250H;ENSP00000265385:P283H;ENSP00000342438:P209H;ENSP00000417296:P233H;ENSP00000420185:P229H;ENSP00000419609:P250H	ENSP00000345096:P319H	P	-	2	0	IMPDH1	127825822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.489000	0.83994	0.655000	0.94253	CCT		0.602	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		6	124	1	0	0.000157383	1	0.00017284	6	124				
ALMS1	7840	broad.mit.edu	37	2	73675915	73675915	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73675915C>A	ENST00000264448.6	+	8	2369	c.2258C>A	c.(2257-2259)aCt>aAt	p.T753N	ALMS1_ENST00000377715.1_Missense_Mutation_p.T753N|ALMS1_ENST00000409009.1_Missense_Mutation_p.T711N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	753	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGAAGACTGAGATACCA	0.438																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(2257-2259)aCt>aAt		Alstrom syndrome 1							146.0	146.0	146.0					2																	73675915		1893	4114	6007	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675915C>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2258C>A	2.37:g.73675915C>A	ENSP00000264448:p.Thr753Asn					ALMS1_ENST00000409009.1_Missense_Mutation_p.T711N|ALMS1_ENST00000377715.1_Missense_Mutation_p.T753N	p.T753N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	2369	+			753			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.2258C>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618146	0.46736	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17213	3.17;3.17;2.29	4.43	2.57	0.30868	.	0.373374	0.23414	N	0.048429	T	0.30696	0.0773	L	0.50333	1.59	0.09310	N	1	P;D;P	0.65815	0.902;0.995;0.904	P;D;P	0.65233	0.605;0.933;0.55	T	0.03630	-1.1018	10	0.66056	D	0.02	.	10.8909	0.46994	0.0:0.6301:0.3699:0.0	.	753;711;753	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	711;753;753	ENSP00000386627:T711N;ENSP00000264448:T753N;ENSP00000366944:T753N	ENSP00000264448:T753N	T	+	2	0	ALMS1	73529423	0.000000	0.05858	0.041000	0.18516	0.027000	0.11550	-0.156000	0.10100	0.763000	0.33175	0.591000	0.81541	ACT		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		22	194	1	0	7.41877e-09	1	8.93215e-09	22	194				
KIAA1217	56243	broad.mit.edu	37	10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	rs141937477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24790356C>T	ENST00000376454.3	+	9	1913	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	KIAA1217_ENST00000396445.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T593M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T548M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T593M|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T311M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000376451.2_Missense_Mutation_p.T311M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T514M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	628					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(931-933)aCg>aTg		KIAA1217		C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	76.0	62.0	67.0		1643,1778,1883	2.9	0.0	10	dbSNP_134	67	0,8600		0,0,4300	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	548/1265,593/1310,628/1944	24790356	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24790356C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1883C>T	10.37:g.24790356C>T	ENSP00000365637:p.Thr628Met					KIAA1217_ENST00000376454.3_Missense_Mutation_p.T628M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T593M|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T311M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T593M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T548M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T514M	p.T311M			Q5T5P2	SKT_HUMAN			4	1192	+			628			Pro-rich.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.932C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080632	0.36758	2.27E-4	0.0	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.88	2.91	0.33838	.	2.091820	0.01788	N	0.032166	T	0.53498	0.1800	L	0.36672	1.1	0.09310	N	1	D;D;P;P;D;P;D;P	0.63046	0.957;0.965;0.897;0.862;0.975;0.897;0.992;0.771	P;P;B;B;P;B;P;B	0.54100	0.563;0.466;0.361;0.352;0.586;0.361;0.742;0.115	T	0.37641	-0.9697	10	0.72032	D	0.01	.	7.8065	0.29206	0.0:0.6162:0.2509:0.1329	.	593;593;311;311;311;311;628;628	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	M	548;593;593;311;628;593;443;514;311;311;311;311;311	ENSP00000365645:T548M;ENSP00000365639:T593M;ENSP00000392625:T593M;ENSP00000365637:T628M;ENSP00000365635:T593M;ENSP00000404798:T443M;ENSP00000389680:T514M;ENSP00000302343:T311M;ENSP00000379722:T311M;ENSP00000365634:T311M;ENSP00000379723:T311M	ENSP00000302343:T311M	T	+	2	0	KIAA1217	24830362	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.802000	0.27069	0.812000	0.34326	0.655000	0.94253	ACG		0.582	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		23	33	0	0	0	1	0	23	33				
CEP152	22995	broad.mit.edu	37	15	49048132	49048132	+	Missense_Mutation	SNP	G	G	T	rs74553953	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49048132G>T	ENST00000380950.2	-	20	3500	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	CEP152_ENST00000325747.5_Missense_Mutation_p.L1012I|CEP152_ENST00000399334.3_Missense_Mutation_p.L1105I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1105					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTTCTACAAGCAGAGGAAGT	0.368																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3313-3315)Ctt>Att		centrosomal protein 152kDa							162.0	158.0	160.0					15																	49048132		2017	4184	6201	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49048132G>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3313C>A	15.37:g.49048132G>T	ENSP00000370337:p.Leu1105Ile					CEP152_ENST00000399334.3_Missense_Mutation_p.L1105I|CEP152_ENST00000325747.5_Missense_Mutation_p.L1012I	p.L1105I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	20	3500	-		all_lung(180;0.0428)	1105					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3313C>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	7.807	0.714853	0.15306	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.51325	0.71;0.74;0.77	5.51	3.57	0.40892	.	0.923613	0.09263	N	0.826186	T	0.37544	0.1007	L	0.50919	1.6	0.09310	N	1	B;B;B	0.25441	0.003;0.023;0.126	B;B;B	0.19946	0.007;0.015;0.027	T	0.33240	-0.9876	10	0.07175	T	0.84	-1.6918	8.6403	0.33972	0.0:0.246:0.4316:0.3225	.	1012;1105;1105	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	1105;1012;1105	ENSP00000370337:L1105I;ENSP00000321000:L1012I;ENSP00000382271:L1105I	ENSP00000321000:L1012I	L	-	1	0	CEP152	46835424	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.297000	0.19101	0.745000	0.32763	0.591000	0.81541	CTT		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		49	85	1	0	9.52127e-25	1	1.26392e-24	49	85				
FAM58A	92002	broad.mit.edu	37	X	152861628	152861628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152861628G>A	ENST00000406277.2	-	4	226	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	44					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)					endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGACCGCATCCCTAGC	0.537																																						ENST00000406277.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6						c.(124-126)Cgg>Tgg		family with sequence similarity 58, member A							113.0	100.0	105.0					X																	152861628		2203	4300	6503	SO:0001583	missense	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152861628G>A	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.124C>T	X.37:g.152861628G>A	ENSP00000384396:p.Arg42Trp					FAM58A_ENST00000370175.4_5'UTR	p.R42W	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN			4	226	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		44					Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	G	9.372	1.070816	0.20147	.	.	ENSG00000147382	ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173;ENST00000428722	T	0.46819	0.86	4.43	4.43	0.53597	Cyclin, N-terminal (1);Cyclin-like (3);	0.576668	0.18651	N	0.135010	T	0.49098	0.1537	M	0.66939	2.045	0.40152	D	0.976965	B;B	0.21606	0.023;0.058	B;B	0.19946	0.005;0.027	T	0.54268	-0.8319	10	0.62326	D	0.03	-4.581	15.2676	0.73675	0.0:0.0:1.0:0.0	.	44;44	Q8N1B3-2;Q8N1B3	.;FA58A_HUMAN	W	10;42;10;42;42;10	ENSP00000384396:R42W	ENSP00000276345:R42W	R	-	1	2	FAM58A	152514822	1.000000	0.71417	0.760000	0.31359	0.174000	0.22865	5.426000	0.66476	1.926000	0.55796	0.506000	0.49869	CGG		0.537	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274		40	42	0	0	0	1	0	40	42				
GPR179	440435	broad.mit.edu	37	17	36499492	36499492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36499492C>T	ENST00000342292.4	-	1	201	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	61					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A61T(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637																																						ENST00000342292.4																			1	Substitution - Missense(1)	p.A61T(1)	kidney(1)	breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(181-183)Gct>Act		G protein-coupled receptor 179							35.0	38.0	37.0					17																	36499492		1917	4110	6027	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499492C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.181G>A	17.37:g.36499492C>T	ENSP00000345060:p.Ala61Thr						p.A61T	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			1	201	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	61						Missense_Mutation	SNP	ENST00000342292.4	37	c.181G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357377	0.11239	.	.	ENSG00000188888	ENST00000342292	T	0.78595	-1.19	5.02	3.03	0.35002	.	0.268217	0.30704	N	0.009046	T	0.74268	0.3694	M	0.70275	2.135	0.23602	N	0.997314	B	0.14012	0.009	B	0.10450	0.005	T	0.64093	-0.6488	10	0.46703	T	0.11	-2.4275	10.6573	0.45682	0.0:0.7691:0.0:0.2309	.	61	Q6PRD1	GP179_HUMAN	T	61	ENSP00000345060:A61T	ENSP00000345060:A61T	A	-	1	0	GPR179	33753018	0.004000	0.15560	0.998000	0.56505	0.015000	0.08874	-0.325000	0.07976	0.312000	0.23038	-0.797000	0.03246	GCT		0.637	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			12	31	0	0	0	1	0	12	31				
PTGFRN	5738	broad.mit.edu	37	1	117529477	117529477	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529477T>C	ENST00000393203.2	+	9	2675	c.2528T>C	c.(2527-2529)aTc>aCc	p.I843T		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	843					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCCACGGTCATCGGGCTCCTG	0.602																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2527-2529)aTc>aCc		prostaglandin F2 receptor inhibitor							113.0	101.0	105.0					1																	117529477		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117529477T>C	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2528T>C	1.37:g.117529477T>C	ENSP00000376899:p.Ile843Thr						p.I843T	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	9	2675	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	843					Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2528T>C	CCDS890.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.920907	0.52653	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.04360	3.64	6.17	5.05	0.67936	.	0.271735	0.37623	N	0.002019	T	0.01454	0.0047	L	0.36672	1.1	0.39499	D	0.968175	B	0.33583	0.418	B	0.24394	0.053	T	0.55444	-0.8140	10	0.23891	T	0.37	-24.4861	10.3425	0.43887	0.0:0.0763:0.0:0.9237	.	843	Q9P2B2	FPRP_HUMAN	T	843;702	ENSP00000376899:I843T	ENSP00000376899:I843T	I	+	2	0	PTGFRN	117331000	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.172000	0.65003	1.165000	0.42670	0.533000	0.62120	ATC		0.602	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		7	82	0	0	0	1	0	7	82				
CCDC105	126402	broad.mit.edu	37	19	15133743	15133743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15133743G>A	ENST00000292574.3	+	7	1394	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	438						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGAGCTGCTCGCCACGCACAA	0.632																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1312-1314)Gcc>Acc		coiled-coil domain containing 105							52.0	38.0	43.0					19																	15133743		2202	4300	6502	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15133743G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1312G>A	19.37:g.15133743G>A	ENSP00000292574:p.Ala438Thr						p.A438T	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			7	1394	+			438					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.1312G>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	g	7.209	0.595047	0.13875	.	.	ENSG00000160994	ENST00000292574	T	0.02472	4.28	4.12	-2.17	0.07059	.	1.417150	0.04580	N	0.394709	T	0.01835	0.0058	N	0.25144	0.715	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.47289	-0.9129	10	0.13470	T	0.59	-1.3447	0.4624	0.00518	0.3294:0.1656:0.3142:0.1908	.	438	Q8IYK2	CC105_HUMAN	T	438	ENSP00000292574:A438T	ENSP00000292574:A438T	A	+	1	0	CCDC105	14994743	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.520000	0.06252	-0.143000	0.11334	-0.359000	0.07587	GCC		0.632	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		4	8	0	0	0	1	0	4	8				
LCA5	167691	broad.mit.edu	37	6	80197018	80197018	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80197018C>A	ENST00000392959.1	-	9	2408	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	LCA5_ENST00000369846.4_Missense_Mutation_p.E599D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	599					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E599D(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAGCTTTTTTCTCTTTTCTTG	0.358																																						ENST00000392959.1																			1	Substitution - Missense(1)	p.E599D(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1795-1797)gaG>gaT		Leber congenital amaurosis 5							96.0	97.0	97.0					6																	80197018		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197018C>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1797G>T	6.37:g.80197018C>A	ENSP00000376686:p.Glu599Asp					LCA5_ENST00000369846.4_Missense_Mutation_p.E599D	p.E599D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	9	2408	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	599					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1797G>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016911	0.54576	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.38401	1.14;1.14	5.55	2.58	0.30949	.	0.119371	0.56097	D	0.000036	T	0.26159	0.0638	L	0.31664	0.95	0.32290	N	0.566438	D	0.89917	1.0	D	0.85130	0.997	T	0.19321	-1.0309	10	0.87932	D	0	-8.9685	4.3864	0.11319	0.146:0.5006:0.0:0.3534	.	599	Q86VQ0	LCA5_HUMAN	D	599	ENSP00000358861:E599D;ENSP00000376686:E599D	ENSP00000358861:E599D	E	-	3	2	LCA5	80253737	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	0.577000	0.23758	0.217000	0.20800	0.585000	0.79938	GAG		0.358	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		44	72	1	0	6.21074e-16	1	7.99102e-16	44	72				
GLIS3	169792	broad.mit.edu	37	9	4286206	4286206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4286206C>T	ENST00000381971.3	-	2	813	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTCTCAGCCACGTTGTTCTGA	0.587																																						ENST00000381971.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(220-222)Gtg>Atg		GLIS family zinc finger 3							70.0	76.0	74.0					9																	4286206		2070	4198	6268	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4286206C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.220G>A	9.37:g.4286206C>T	ENSP00000371398:p.Val74Met						p.V74M	NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	813	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	0			Ser-rich.		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000381971.3	37	c.220G>A	CCDS43784.1	.	.	.	.	.	.	.	.	.	.	C	3.470	-0.108137	0.06924	.	.	ENSG00000107249	ENST00000381971;ENST00000477901;ENST00000481827	T	0.09445	2.98	5.75	-6.77	0.01727	.	.	.	.	.	T	0.02848	0.0085	N	0.02539	-0.55	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.11329	0.003;0.006	T	0.42361	-0.9456	9	0.30078	T	0.28	.	2.898	0.05697	0.0994:0.3378:0.1868:0.3761	.	74;74	F8WEV9;Q8NEA6-2	.;.	M	74	ENSP00000371398:V74M	ENSP00000371398:V74M	V	-	1	0	GLIS3	4276206	0.863000	0.29885	0.143000	0.22291	0.777000	0.43975	-0.142000	0.10311	-0.738000	0.04817	-0.793000	0.03317	GTG		0.587	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		12	38	0	0	0	1	0	12	38				
PRR14	78994	broad.mit.edu	37	16	30666273	30666273	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666273C>A	ENST00000542965.2	+	7	1438	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	PRR14_ENST00000300835.4_Missense_Mutation_p.L328M|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	328	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAAGCCCTCTCTGGGCCGAAG	0.687																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(982-984)Ctg>Atg		proline rich 14							56.0	57.0	57.0					16																	30666273		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30666273C>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.982C>A	16.37:g.30666273C>A	ENSP00000441641:p.Leu328Met					PRR14_ENST00000300835.4_Missense_Mutation_p.L328M|PRR14_ENST00000571654.1_3'UTR	p.L328M			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1438	+			328			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.982C>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078518	0.55753	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.60797	0.16;0.16	5.77	4.73	0.59995	.	0.000000	0.51477	D	0.000090	T	0.70876	0.3274	M	0.69823	2.125	0.29456	N	0.858148	D	0.89917	1.0	D	0.91635	0.999	T	0.66027	-0.6025	10	0.41790	T	0.15	-9.9372	9.3177	0.37943	0.0:0.8704:0.0:0.1296	.	328	Q9BWN1	PRR14_HUMAN	M	301;328;328	ENSP00000300835:L328M;ENSP00000441641:L328M	ENSP00000287463:L301M	L	+	1	2	PRR14	30573774	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	1.384000	0.34396	2.726000	0.93360	0.655000	0.94253	CTG		0.687	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		10	32	1	0	0.0581538	1	0.0593651	10	32				
ACOT11	26027	broad.mit.edu	37	1	55065012	55065012	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55065012T>C	ENST00000371316.3	+	8	890	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	270	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CATTGAAATGTTCCACTTCCG	0.612																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(808-810)Ttc>Ctc		acyl-CoA thioesterase 11							128.0	122.0	124.0					1																	55065012		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55065012T>C	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.808T>C	1.37:g.55065012T>C	ENSP00000360366:p.Phe270Leu					ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L	p.F270L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			8	890	+			270			Acyl coenzyme A hydrolase 2.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.808T>C	CCDS592.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883080	0.91740	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.19105	2.17;2.17	5.27	5.27	0.74061	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	L	0.33668	1.02	0.80722	D	1	P;D	0.64830	0.846;0.994	P;D	0.66497	0.68;0.944	T	0.03184	-1.1063	10	0.38643	T	0.18	-20.1132	15.1876	0.73016	0.0:0.0:0.0:1.0	.	270;270	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	L	270	ENSP00000340260:F270L;ENSP00000360366:F270L	ENSP00000340260:F270L	F	+	1	0	ACOT11	54837600	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.765000	0.85310	1.988000	0.58038	0.459000	0.35465	TTC		0.612	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		9	142	0	0	0	1	0	9	142				
DENND2C	163259	broad.mit.edu	37	1	115166215	115166215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115166215G>A	ENST00000393274.1	-	5	1481	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q286*	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	286					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAATCGTCTGTGAGTTCCGA	0.333																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(856-858)Cag>Tag		DENN/MADD domain containing 2C							95.0	92.0	93.0					1																	115166215		2202	4300	6502	SO:0001587	stop_gained	163259							g.chr1:115166215G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.856C>T	1.37:g.115166215G>A	ENSP00000376955:p.Gln286*					DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000481894.1_5'UTR	p.Q286*	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1481	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	286					B1AL26|Q5TCX6|Q6P3R3	Nonsense_Mutation	SNP	ENST00000393274.1	37	c.856C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	40	8.101380	0.98654	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	5.91	4.99	0.66335	.	0.622819	0.16999	N	0.190977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	17.1751	0.86839	0.0:0.1262:0.8738:0.0	.	.	.	.	X	286	.	ENSP00000358553:Q286X	Q	-	1	0	DENND2C	114967738	0.999000	0.42202	0.962000	0.40283	0.112000	0.19704	3.036000	0.49767	1.493000	0.48517	0.655000	0.94253	CAG		0.333	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		6	62	0	0	0	1	0	6	62				
MYH2	4620	broad.mit.edu	37	17	10428206	10428206	+	Silent	SNP	A	A	G	rs1042185	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10428206A>G	ENST00000245503.5	-	34	5223	c.4839T>C	c.(4837-4839)agT>agC	p.S1613S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.S1613S|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1613					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCATTCCTACTCCTGATCT	0.483													N|||	2	0.000399361	0.0008	0.0	5008	,	,		21453	0.0		0.001	False		,,,				2504	0.0					ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4837-4839)agT>agC		myosin, heavy chain 2, skeletal muscle, adult							244.0	209.0	221.0					17																	10428206		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428206A>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4839T>C	17.37:g.10428206A>G						CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.S1613S|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.S1613S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			34	5223	-			1613					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4839T>C	CCDS11156.1																																																																																				0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	125	0	0	0	1	0	5	125				
VPS45	11311	broad.mit.edu	37	1	150048339	150048339	+	Silent	SNP	C	C	T	rs150076399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150048339C>T	ENST00000369130.3	+	4	864	c.318C>T	c.(316-318)gaC>gaT	p.D106D	VPS45_ENST00000535106.1_Silent_p.D106D|VPS45_ENST00000369128.5_Silent_p.D70D	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	106					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAGAGTGACGTGAAGTCAT	0.413													C|||	7	0.00139776	0.0053	0.0	5008	,	,		12000	0.0		0.0	False		,,,				2504	0.0					ENST00000369130.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(316-318)gaC>gaT		vacuolar protein sorting 45 homolog (S. cerevisiae)		C		15,4391	22.3+/-47.3	0,15,2188	180.0	158.0	165.0		318	-6.1	0.9	1	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	VPS45	NM_007259.3		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		106/571	150048339	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150048339C>T	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.318C>T	1.37:g.150048339C>T						VPS45_ENST00000369128.5_Silent_p.D70D|VPS45_ENST00000535106.1_Silent_p.D106D	p.D106D	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	864	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		106					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	ENST00000369130.3	37	c.318C>T	CCDS944.1																																																																																				0.413	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		29	52	0	0	0	1	0	29	52				
JAKMIP2	9832	broad.mit.edu	37	5	147020280	147020280	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147020280T>C	ENST00000265272.5	-	9	1855	c.1388A>G	c.(1387-1389)gAt>gGt	p.D463G	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D463G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D421G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	463						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAAGTCATCATCAGGAGT	0.408																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1387-1389)gAt>gGt		janus kinase and microtubule interacting protein 2							155.0	130.0	138.0					5																	147020280		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147020280T>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1388A>G	5.37:g.147020280T>C	ENSP00000265272:p.Asp463Gly					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D421G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D463G	p.D463G	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1855	-			463					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1388A>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632588	0.67015	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.25085	1.82;1.83;1.84	5.85	5.85	0.93711	.	0.047601	0.85682	D	0.000000	T	0.24275	0.0588	L	0.42245	1.32	0.58432	D	0.999992	B;B;B;B	0.21606	0.058;0.058;0.058;0.017	B;B;B;B	0.20955	0.032;0.032;0.032;0.032	T	0.04607	-1.0939	10	0.18710	T	0.47	.	16.5479	0.84454	0.0:0.0:0.0:1.0	.	421;463;463;463	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	G	463;463;421;463	ENSP00000421398:D463G;ENSP00000265272:D463G;ENSP00000328989:D421G	ENSP00000265272:D463G	D	-	2	0	JAKMIP2	147000473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.611000	0.82962	2.371000	0.80710	0.533000	0.62120	GAT		0.408	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		39	66	0	0	0	1	0	39	66				
MRPL19	9801	broad.mit.edu	37	2	75879388	75879388	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879388T>C	ENST00000393909.2	+	3	365		c.e3+2		MRPL19_ENST00000409374.1_Splice_Site|MRPL19_ENST00000358788.6_Splice_Site	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19						translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						TCTATGTTGGTCAGTAAGAGC	0.323																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.e3+2		mitochondrial ribosomal protein L19							74.0	73.0	73.0					2																	75879388		1813	4058	5871	SO:0001630	splice_region_variant	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879388T>C	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.340+2T>C	2.37:g.75879388T>C						MRPL19_ENST00000409374.1_Splice_Site|MRPL19_ENST00000358788.6_Splice_Site		NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			3	365	+								Q53TX9|Q96Q52	Splice_Site	SNP	ENST00000393909.2	37		CCDS1960.2	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555493	0.65425	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6937	0.56990	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRPL19	75732896	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.353000	0.79414	2.043000	0.60533	0.528000	0.53228	.		0.323	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763	Intron	25	72	0	0	0	1	0	25	72				
ARFGEF1	10565	broad.mit.edu	37	8	68116985	68116985	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68116985G>T	ENST00000262215.3	-	35	5278	c.4889C>A	c.(4888-4890)aCt>aAt	p.T1630N	ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.T468N|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T1084N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1630					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTGTCGATAGTCTGGATGAG	0.443																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4888-4890)aCt>aAt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							147.0	125.0	133.0					8																	68116985		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68116985G>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4889C>A	8.37:g.68116985G>T	ENSP00000262215:p.Thr1630Asn					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T1084N|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.T468N	p.T1630N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		35	5278	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1630					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4889C>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067745	0.93950	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.55588	0.51;0.51;0.51	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.71871	2.18	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.992	D;D;D	0.71414	0.973;0.939;0.912	T	0.73911	-0.3833	10	0.87932	D	0	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	1630;454;1084	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	N	1084;1630;468	ENSP00000428429:T1084N;ENSP00000262215:T1630N;ENSP00000430891:T468N	ENSP00000262215:T1630N	T	-	2	0	ARFGEF1	68279539	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	ACT		0.443	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		6	91	1	0	0.0215528	1	0.0221649	6	91				
MACF1	23499	broad.mit.edu	37	1	39763358	39763358	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763358T>C	ENST00000372915.3	+	20	2524	c.2437T>C	c.(2437-2439)Tat>Cat	p.Y813H	MACF1_ENST00000567887.1_Missense_Mutation_p.Y845H|MACF1_ENST00000361689.2_Missense_Mutation_p.Y813H|MACF1_ENST00000317713.7_Missense_Mutation_p.Y813H|MACF1_ENST00000539005.1_Missense_Mutation_p.Y813H|MACF1_ENST00000564288.1_Missense_Mutation_p.Y808H|MACF1_ENST00000545844.1_Missense_Mutation_p.Y813H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	813					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAACGAAAATATTCCTGTGA	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2422-2424)Tat>Cat		microtubule-actin crosslinking factor 1							124.0	117.0	119.0					1																	39763358		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39763358T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2437T>C	1.37:g.39763358T>C	ENSP00000362006:p.Tyr813His					MACF1_ENST00000545844.1_Missense_Mutation_p.Y813H|MACF1_ENST00000567887.1_Missense_Mutation_p.Y845H|MACF1_ENST00000372915.3_Missense_Mutation_p.Y813H|MACF1_ENST00000317713.7_Missense_Mutation_p.Y813H|MACF1_ENST00000361689.2_Missense_Mutation_p.Y813H|MACF1_ENST00000539005.1_Missense_Mutation_p.Y813H	p.Y808H			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		21	3199	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	813					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2422T>C		.	.	.	.	.	.	.	.	.	.	T	33	5.206979	0.95033	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	6.06	6.06	0.98353	.	.	.	.	.	D	0.97414	0.9154	M	0.88181	2.935	0.80722	D	1	P;P	0.40909	0.637;0.732	B;P	0.57152	0.202;0.814	D	0.97878	1.0290	9	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	813;778	F8W8Q1;Q9UPN3-3	.;.	H	813;813;813;813;813;771;962;973	ENSP00000439537:Y813H;ENSP00000362006:Y813H;ENSP00000354573:Y813H;ENSP00000313438:Y813H;ENSP00000444364:Y813H;ENSP00000435070:Y771H;ENSP00000437059:Y962H	ENSP00000313438:Y813H	Y	+	1	0	MACF1	39535945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.324000	0.78689	0.533000	0.62120	TAT		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		26	49	0	0	0	1	0	26	49				
PPIEL	728448	broad.mit.edu	37	1	40007451	40007451	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40007451C>T	ENST00000440190.1	-	0	455				RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA																							GGGGATAATGCGGTGGAAGCT	0.443																																						ENST00000440190.1																			0																																																			0							g.chr1:40007451C>T																													1.37:g.40007451C>T						RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA								0	455	-									RNA	SNP	ENST00000440190.1	37																																																																																						0.443	RP11-69E11.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000025214.1			5	5	0	0	0	1	0	5	5				
SMAD7	4092	broad.mit.edu	37	18	46476188	46476188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46476188C>T	ENST00000262158.2	-	1	893	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SMAD7_ENST00000589634.1_Missense_Mutation_p.E203K|SMAD7_ENST00000591805.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	203	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCACCTAGTTCGCAGAGTCGG	0.567											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(607-609)Gaa>Aaa		SMAD family member 7							30.0	31.0	30.0					18																	46476188		2202	4300	6502	SO:0001583	missense	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46476188C>T	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.607G>A	18.37:g.46476188C>T	ENSP00000262158:p.Glu203Lys		OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	939	SMAD7_ENST00000589634.1_Missense_Mutation_p.E203K	p.E203K	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			1	893	-	Colorectal(1;0.0518)		203			MH1.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.607G>A	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008916	0.54361	.	.	ENSG00000101665	ENST00000262158	D	0.94576	-3.46	4.7	4.7	0.59300	MAD homology, MH1 (3);SMAD/FHA domain (1);MAD homology 1, Dwarfin-type (1);	0.107759	0.64402	D	0.000008	D	0.91205	0.7229	L	0.59436	1.845	0.80722	D	1	P	0.35348	0.496	B	0.24848	0.056	D	0.90117	0.4196	10	0.22109	T	0.4	.	16.2154	0.82211	0.0:1.0:0.0:0.0	.	203	O15105	SMAD7_HUMAN	K	203	ENSP00000262158:E203K	ENSP00000262158:E203K	E	-	1	0	SMAD7	44730186	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.649000	0.83500	2.158000	0.67659	0.561000	0.74099	GAA		0.567	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		5	10	0	0	0	1	0	5	10				
ANAPC5	51433	broad.mit.edu	37	12	121746350	121746350	+	Missense_Mutation	SNP	G	G	A	rs115934510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121746350G>A	ENST00000261819.3	-	17	2322	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	ANAPC5_ENST00000344395.4_Missense_Mutation_p.A622V|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A721V|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A622V|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A400V|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	734					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.A734V(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAGAGCATCGCACACCGGTT	0.562																																						ENST00000261819.3																			2	Substitution - Missense(2)	p.A734V(2)	large_intestine(1)|lung(1)	breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2200-2202)gCg>gTg		anaphase promoting complex subunit 5							111.0	104.0	107.0					12																	121746350		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746350G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2201C>T	12.37:g.121746350G>A	ENSP00000261819:p.Ala734Val					ANAPC5_ENST00000541887.1_Missense_Mutation_p.A721V|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A400V|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A622V|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A622V	p.A734V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2322	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		734					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2201C>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355967	0.95854	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T	0.75367	-0.93	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.106601	0.64402	D	0.000005	T	0.82033	0.4949	L	0.58101	1.795	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.995	P;P;P	0.57009	0.811;0.559;0.652	D	0.83620	0.0139	10	0.87932	D	0	.	18.6393	0.91389	0.0:0.0:1.0:0.0	.	400;622;734	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	V	622;721;734;400;336;622	ENSP00000438754:A400V	ENSP00000261819:A734V	A	-	2	0	ANAPC5	120230733	1.000000	0.71417	0.617000	0.29091	0.991000	0.79684	8.733000	0.91539	2.646000	0.89796	0.563000	0.77884	GCG		0.562	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			26	47	0	0	0	1	0	26	47				
WIPI2	26100	broad.mit.edu	37	7	5232791	5232791	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5232791C>T	ENST00000288828.4	+	2	349	c.117C>T	c.(115-117)cgC>cgT	p.R39R	WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000404704.3_Silent_p.R39R|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000401525.3_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	39					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTGGCCGTCGCGCTGTTGTCT	0.388																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(115-117)cgC>cgT		WD repeat domain, phosphoinositide interacting 2							135.0	135.0	135.0					7																	5232791		2203	4300	6503	SO:0001819	synonymous_variant	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5232791C>T		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.117C>T	7.37:g.5232791C>T						WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000404704.3_Silent_p.R39R|WIPI2_ENST00000382384.2_Intron	p.R39R	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	2	349	+		Ovarian(82;0.0175)	39					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	c.117C>T	CCDS5339.1																																																																																				0.388	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		11	150	0	0	0	1	0	11	150				
ARNTL2	56938	broad.mit.edu	37	12	27573431	27573431	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27573431C>A	ENST00000266503.5	+	17	1895	c.1877C>A	c.(1876-1878)cCt>cAt	p.P626H	ARNTL2_ENST00000261178.5_Missense_Mutation_p.P578H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P612H|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.P541H|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000544915.1_Missense_Mutation_p.P592H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.P589H			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	626					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTGGGAGACCCTGGGGACTTC	0.438																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1774-1776)cCt>cAt		aryl hydrocarbon receptor nuclear translocator-like 2							77.0	81.0	80.0					12																	27573431		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27573431C>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1877C>A	12.37:g.27573431C>A	ENSP00000266503:p.Pro626His					ARNTL2_ENST00000542388.1_Missense_Mutation_p.P541H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.P626H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P578H|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P612H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.P589H|RP11-165P7.1_ENST00000500498.2_RNA	p.P592H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			16	1994	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		626					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.1775C>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.72|17.72	3.460267|3.460267	0.63401|0.63401	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|T;T;T;T;T;T	.|0.35421	.|1.31;1.31;1.31;1.31;1.31;1.31	3.63|3.63	3.63|3.63	0.41609|0.41609	.|.	.|0.200145	.|0.39341	.|N	.|0.001397	T|T	0.60612|0.60612	0.2282|0.2282	M|M	0.81341|0.81341	2.54|2.54	0.36450|0.36450	D|D	0.865995|0.865995	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D	.|0.79108	.|0.992;0.987;0.987;0.957;0.99	T|T	0.73471|0.73471	-0.3972|-0.3972	5|10	.|0.87932	.|D	.|0	.|.	14.038|14.038	0.64658|0.64658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|592;589;578;612;626	.|Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.|.;.;.;.;BMAL2_HUMAN	M|H	578|592;589;612;578;626;541	.|ENSP00000442438:P592H;ENSP00000379238:P589H;ENSP00000312247:P612H;ENSP00000261178:P578H;ENSP00000266503:P626H;ENSP00000445836:P541H	.|ENSP00000261178:P578H	L|P	+|+	1|2	2|0	ARNTL2|ARNTL2	27464698|27464698	0.955000|0.955000	0.32602|0.32602	0.988000|0.988000	0.46212|0.46212	0.994000|0.994000	0.84299|0.84299	4.294000|4.294000	0.59043|0.59043	2.026000|2.026000	0.59711|0.59711	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.438	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		5	82	1	0	3.59834e-05	1	4.01776e-05	5	82				
USP19	10869	broad.mit.edu	37	3	49154763	49154763	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49154763G>A	ENST00000398888.2	-	5	925				USP19_ENST00000453664.1_Missense_Mutation_p.P203L|USP19_ENST00000434032.2_Missense_Mutation_p.P213L|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.P150L|USP19_ENST00000398896.1_Intron|USP19_ENST00000417901.1_Missense_Mutation_p.P213L|USP19_ENST00000398892.3_Missense_Mutation_p.P150L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGCAGCCCCGGCACCAGCTC	0.612																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(607-609)cCg>cTg		ubiquitin specific peptidase 19																																				SO:0001627	intron_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49154763G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.606+106C>T	3.37:g.49154763G>A						USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398896.1_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.P150L|USP19_ENST00000417901.1_Missense_Mutation_p.P213L|USP19_ENST00000398888.2_Intron|USP19_ENST00000434032.2_Missense_Mutation_p.P213L|USP19_ENST00000398898.2_Missense_Mutation_p.P150L	p.P203L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	926	-			212					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.608C>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806572	0.31961	.	.	ENSG00000172046	ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T	0.29397	2.21;2.31;2.3;2.21;2.31;1.57	5.86	3.12	0.35913	.	.	.	.	.	T	0.15955	0.0384	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.09377	0.001;0.0;0.0;0.004	T	0.21280	-1.0250	9	0.28530	T	0.3	0.0335	5.3928	0.16253	0.2271:0.0:0.6034:0.1695	.	276;213;203;198	A5PKX8;E9PEG8;E7EN22;O94966-2	.;.;.;.	L	150;213;203;150;213;198;198;10	ENSP00000381872:P150L;ENSP00000395260:P213L;ENSP00000400090:P203L;ENSP00000381867:P150L;ENSP00000401197:P213L;ENSP00000303503:P198L	ENSP00000303503:P198L	P	-	2	0	USP19	49129767	0.000000	0.05858	0.010000	0.14722	0.954000	0.61252	0.688000	0.25422	0.836000	0.34901	-0.133000	0.14855	CCG		0.612	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		10	8	0	0	0	1	0	10	8				
PAK7	57144	broad.mit.edu	37	20	9560823	9560823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9560823C>T	ENST00000378429.3	-	5	1505	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PAK7_ENST00000353224.5_Missense_Mutation_p.R320H|PAK7_ENST00000378423.1_Missense_Mutation_p.R320H|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	320	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCGGACAAGCGAGGGTAGGT	0.537																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(958-960)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 7							310.0	252.0	271.0					20																	9560823		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9560823C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.959G>A	20.37:g.9560823C>T	ENSP00000367686:p.Arg320His					PAK7_ENST00000353224.5_Missense_Mutation_p.R320H|PAK7_ENST00000378423.1_Missense_Mutation_p.R320H	p.R320H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1505	-			320			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.959G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196268	0.94960	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.74209	-0.82;-0.82;-0.82	5.87	5.87	0.94306	.	0.049144	0.85682	D	0.000000	T	0.77837	0.4190	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.998	P;P	0.60609	0.877;0.753	T	0.74639	-0.3598	9	.	.	.	.	20.2937	0.98544	0.0:1.0:0.0:0.0	.	320;320	B0AZM9;Q9P286	.;PAK7_HUMAN	H	320;320;320;268	ENSP00000367686:R320H;ENSP00000322957:R320H;ENSP00000367679:R320H	.	R	-	2	0	PAK7	9508823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.184000	0.77705	2.813000	0.96785	0.638000	0.83543	CGC		0.537	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			9	131	0	0	0	1	0	9	131				
KLHL30	377007	broad.mit.edu	37	2	239057697	239057697	+	Silent	SNP	G	G	A	rs371564904		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239057697G>A	ENST00000409223.1	+	7	1496	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	KLHL30_ENST00000305959.4_Silent_p.S445S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	463										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACCTGTCCTCGCCTCGCTGTG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16632	0.001		0.0	False		,,,				2504	0.0					ENST00000409223.1																			0				lung(4)	4						c.(1387-1389)tcG>tcA		kelch-like family member 30		G		0,4330		0,0,2165	75.0	91.0	85.0		1389	-9.0	0.0	2		85	1,8503		0,1,4251	no	coding-synonymous	KLHL30	NM_198582.3		0,1,6416	AA,AG,GG		0.0118,0.0,0.0078		463/579	239057697	1,12833	2165	4252	6417	SO:0001819	synonymous_variant	377007							g.chr2:239057697G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1389G>A	2.37:g.239057697G>A						KLHL30_ENST00000305959.4_Silent_p.S445S	p.S463S			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	7	1496	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	463					Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.1389G>A	CCDS46555.2																																																																																				0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		3	18	0	0	0	1	0	3	18				
SEMA3D	223117	broad.mit.edu	37	7	84628908	84628908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84628908C>T	ENST00000284136.6	-	17	2225	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	728					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGTACTGGTCGAGGCTGAAG	0.507																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2182-2184)Gac>Aac		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							169.0	143.0	152.0					7																	84628908		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628908C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2182G>A	7.37:g.84628908C>T	ENSP00000284136:p.Asp728Asn					SEMA3D_ENST00000484038.1_5'UTR	p.D728N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2225	-			728					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2182G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547110	0.65311	.	.	ENSG00000153993	ENST00000284136	T	0.32988	1.43	5.73	5.73	0.89815	.	0.048580	0.85682	D	0.000000	T	0.45776	0.1359	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	P	0.54372	0.75	T	0.15983	-1.0418	10	0.15499	T	0.54	.	19.9002	0.96983	0.0:1.0:0.0:0.0	.	728	O95025	SEM3D_HUMAN	N	728	ENSP00000284136:D728N	ENSP00000284136:D728N	D	-	1	0	SEMA3D	84466844	1.000000	0.71417	0.979000	0.43373	0.910000	0.53928	7.233000	0.78125	2.709000	0.92574	0.655000	0.94253	GAC		0.507	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		21	69	0	0	0	1	0	21	69				
SHARPIN	81858	broad.mit.edu	37	8	145154071	145154071	+	Silent	SNP	G	G	A	rs555935290		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145154071G>A	ENST00000398712.2	-	7	1396	c.960C>T	c.(958-960)gaC>gaT	p.D320D	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	320					apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGTTCCCCGTCCATCTTCT	0.677																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(958-960)gaC>gaT		SHANK-associated RH domain interactor							23.0	25.0	25.0					8																	145154071		1936	4136	6072	SO:0001819	synonymous_variant	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154071G>A	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.960C>T	8.37:g.145154071G>A							p.D320D	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1396	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		320					A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.960C>T	CCDS43777.1																																																																																				0.677	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		10	18	0	0	0	1	0	10	18				
METAP2	10988	broad.mit.edu	37	12	95905716	95905716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95905716G>T	ENST00000323666.5	+	9	1239	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	METAP2_ENST00000551840.1_Missense_Mutation_p.R336I|METAP2_ENST00000546753.1_Missense_Mutation_p.R314I|METAP2_ENST00000550777.1_Missense_Mutation_p.R301I|METAP2_ENST00000261220.9_Missense_Mutation_p.R314I	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						GGGCAATATAGAATACATGCT	0.363																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1009-1011)aGa>aTa		methionyl aminopeptidase 2	L-Methionine(DB00134)						134.0	118.0	124.0					12																	95905716		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95905716G>T	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.1010G>T	12.37:g.95905716G>T	ENSP00000325312:p.Arg337Ile					METAP2_ENST00000546753.1_Missense_Mutation_p.R314I|METAP2_ENST00000261220.9_Missense_Mutation_p.R314I|METAP2_ENST00000551840.1_Missense_Mutation_p.R336I|METAP2_ENST00000550777.1_Missense_Mutation_p.R301I	p.R337I	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			9	1239	+			337						Missense_Mutation	SNP	ENST00000323666.5	37	c.1010G>T	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834920	0.91036	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.91	5.91	0.95273	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.52573	1.65	0.80722	D	1	B;B;B;B;B	0.28801	0.014;0.033;0.223;0.033;0.041	B;B;B;B;B	0.20384	0.008;0.017;0.016;0.017;0.029	T	0.68685	-0.5343	10	0.32370	T	0.25	-9.8971	20.3011	0.98612	0.0:0.0:1.0:0.0	.	314;301;314;336;337	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	I	337;314;314;301;336	ENSP00000325312:R337I;ENSP00000448169:R314I;ENSP00000261220:R314I;ENSP00000448614:R301I;ENSP00000450063:R336I	ENSP00000261220:R314I	R	+	2	0	METAP2	94429847	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.396000	0.97270	2.804000	0.96469	0.650000	0.86243	AGA		0.363	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		10	34	1	0	3.86212e-05	1	4.30401e-05	10	34				
RASA2	5922	broad.mit.edu	37	3	141327524	141327524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141327524G>A	ENST00000452898.1	+	21	2248	c.2213G>A	c.(2212-2214)tGc>tAc	p.C738Y	RASA2_ENST00000286364.3_Missense_Mutation_p.C737Y|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	738					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACTCTCGGCTGCAAGCCATGT	0.393																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(2209-2211)tGc>tAc		RAS p21 protein activator 2							91.0	92.0	92.0					3																	141327524		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141327524G>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2213G>A	3.37:g.141327524G>A	ENSP00000391677:p.Cys738Tyr					RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.C738Y	p.C737Y			Q15283	RASA2_HUMAN			21	2245	+			737					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.2210G>A		.	.	.	.	.	.	.	.	.	.	G	24.8	4.570680	0.86542	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	D;D	0.99942	-8.47;-8.47	5.54	5.54	0.83059	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	M	0.92604	3.325	0.80722	D	1	D;D;D	0.63880	0.993;0.991;0.993	D;D;D	0.72982	0.979;0.964;0.979	D	0.96146	0.9104	10	0.87932	D	0	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	738;738;737	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	Y	737;738	ENSP00000286364:C737Y;ENSP00000391677:C738Y	ENSP00000286364:C737Y	C	+	2	0	RASA2	142810214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.880000	0.98712	0.650000	0.86243	TGC		0.393	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		18	30	0	0	0	1	0	18	30				
ZFYVE26	23503	broad.mit.edu	37	14	68222729	68222729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68222729G>A	ENST00000347230.4	-	36	6860	c.6722C>T	c.(6721-6723)gCc>gTc	p.A2241V	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.A87V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2241					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGTTGGCAGGCAGCAATCAA	0.453																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(6721-6723)gCc>gTc		zinc finger, FYVE domain containing 26							297.0	292.0	294.0					14																	68222729		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68222729G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6722C>T	14.37:g.68222729G>A	ENSP00000251119:p.Ala2241Val					ZFYVE26_ENST00000557306.1_Missense_Mutation_p.A87V	p.A2241V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	36	6860	-			2241					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6722C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884957	0.72410	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.40756	1.83;1.02	5.25	5.25	0.73442	.	0.125987	0.52532	D	0.000077	T	0.49389	0.1554	N	0.25201	0.72	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.66084	0.876;0.941	T	0.38499	-0.9658	10	0.23302	T	0.38	-14.0771	18.8468	0.92210	0.0:0.0:1.0:0.0	.	87;2241	Q96H43;Q68DK2	.;ZFY26_HUMAN	V	2241;2220;87	ENSP00000251119:A2241V;ENSP00000452142:A87V	ENSP00000251119:A2241V	A	-	2	0	ZFYVE26	67292482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.467000	0.83353	0.462000	0.41574	GCC		0.453	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		182	273	0	0	0	1	0	182	273				
ABCC1	4363	broad.mit.edu	37	16	16215931	16215931	+	Missense_Mutation	SNP	G	G	A	rs202134920	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16215931G>A	ENST00000399410.3	+	24	3665	c.3490G>A	c.(3490-3492)Gtc>Atc	p.V1164I	ABCC1_ENST00000399408.2_Missense_Mutation_p.V1174I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1108I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1105I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1164I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1049I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1164	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGGGTCAGCGTCATTCGAGC	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		18065	0.001		0.0	False		,,,				2504	0.001					ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3520-3522)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						53.0	58.0	56.0					16																	16215931		2184	4293	6477	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16215931G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3490G>A	16.37:g.16215931G>A	ENSP00000382342:p.Val1164Ile					ABCC1_ENST00000345148.5_Missense_Mutation_p.V1164I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1049I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V1164I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1105I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1108I	p.V1174I			P33527	MRP1_HUMAN			25	3695	+			1164			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3520G>A	CCDS42122.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.35	3.811015	0.70797	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.36	5.36	0.76844	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.054203	0.64402	D	0.000001	D	0.87625	0.6224	L	0.39566	1.225	0.42425	D	0.992652	P;P;B;D;B;B	0.53462	0.763;0.543;0.134;0.96;0.162;0.4	B;B;B;B;B;B	0.41894	0.179;0.169;0.075;0.369;0.123;0.157	D	0.88746	0.3247	10	0.49607	T	0.09	-48.3939	18.0776	0.89432	0.0:0.0:1.0:0.0	.	1049;1164;1108;1105;1164;1174	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	I	1164;1174;1108;1105;1164;1049;848	ENSP00000382342:V1164I;ENSP00000382340:V1174I;ENSP00000263019:V1108I;ENSP00000263017:V1105I;ENSP00000263014:V1164I;ENSP00000263016:V1049I	ENSP00000263014:V1164I	V	+	1	0	ABCC1	16123432	1.000000	0.71417	0.999000	0.59377	0.605000	0.37080	6.797000	0.75150	2.509000	0.84616	0.561000	0.74099	GTC		0.602	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		22	28	0	0	0	1	0	22	28				
YME1L1	10730	broad.mit.edu	37	10	27431370	27431370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27431370G>A	ENST00000326799.3	-	5	695	c.547C>T	c.(547-549)Cga>Tga	p.R183*	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R126*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	183					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAATGATGTCGATACAAGCAA	0.308																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(547-549)Cga>Tga		YME1-like 1 ATPase							146.0	159.0	155.0					10																	27431370		2203	4300	6503	SO:0001587	stop_gained	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27431370G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.547C>T	10.37:g.27431370G>A	ENSP00000318480:p.Arg183*					YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R126*|YME1L1_ENST00000375972.3_Intron	p.R183*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			5	695	-			183					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Nonsense_Mutation	SNP	ENST00000326799.3	37	c.547C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093005	0.76756	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000396296	.	.	.	5.39	1.77	0.24775	.	0.191223	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.697	6.0588	0.19826	0.0:0.1509:0.1409:0.7082	.	.	.	.	X	126;183;183;118	.	ENSP00000318480:R183X	R	-	1	2	YME1L1	27471376	0.990000	0.36364	0.935000	0.37517	0.322000	0.28314	0.625000	0.24477	0.049000	0.15920	-1.308000	0.01314	CGA		0.308	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		67	86	0	0	0	1	0	67	86				
SERAC1	84947	broad.mit.edu	37	6	158571620	158571620	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158571620C>A	ENST00000367104.3	-	4	261	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	SERAC1_ENST00000367102.2_Splice_Site_p.G44C|SERAC1_ENST00000607000.1_Splice_Site_p.G44C|SERAC1_ENST00000367101.1_Splice_Site_p.G44C	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	44					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AATAAAGAACCTCTTAAAGAG	0.308																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.e4-1		serine active site containing 1							70.0	77.0	75.0					6																	158571620		2202	4295	6497	SO:0001630	splice_region_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158571620C>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.129-1G>T	6.37:g.158571620C>A						SERAC1_ENST00000607000.1_Splice_Site_p.G44_splice|SERAC1_ENST00000367104.3_Splice_Site_p.G44_splice|SERAC1_ENST00000367101.1_Splice_Site_p.G44_splice	p.G44_splice			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	4	271	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	44					Q49AT1|Q5VTX3|Q6PKF3	Splice_Site	SNP	ENST00000367104.3	37	c.128_splice	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745485	0.69418	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.45668	0.89;0.89;0.89	5.91	5.05	0.67936	.	0.093870	0.85682	D	0.000000	T	0.51126	0.1656	M	0.74881	2.28	0.53688	D	0.99997	D	0.89917	1.0	D	0.63488	0.915	T	0.56565	-0.7958	10	0.87932	D	0	-21.3311	14.029	0.64604	0.0:0.9264:0.0:0.0736	.	44	Q96JX3	SRAC1_HUMAN	C	44	ENSP00000356069:G44C;ENSP00000356071:G44C;ENSP00000356068:G44C	ENSP00000356068:G44C	G	-	1	0	SERAC1	158491608	0.998000	0.40836	0.989000	0.46669	0.905000	0.53344	2.869000	0.48444	-0.111000	0.12001	0.528000	0.53228	GGT		0.308	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861	Missense_Mutation	4	58	1	0	0.00909568	1	0.00947522	4	58				
TEK	7010	broad.mit.edu	37	9	27168541	27168541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27168541A>G	ENST00000380036.4	+	3	855	c.413A>G	c.(412-414)aAc>aGc	p.N138S	TEK_ENST00000519097.1_Missense_Mutation_p.N34S|TEK_ENST00000406359.4_Missense_Mutation_p.N138S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	138					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAGGGAGATAACGTGAACATA	0.353																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(412-414)aAc>aGc		TEK tyrosine kinase, endothelial							161.0	148.0	153.0					9																	27168541		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27168541A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.413A>G	9.37:g.27168541A>G	ENSP00000369375:p.Asn138Ser					TEK_ENST00000519097.1_Missense_Mutation_p.N34S|TEK_ENST00000406359.4_Missense_Mutation_p.N138S	p.N138S	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	3	855	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	138					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.413A>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386734	0.42308	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359	T;T;T	0.73681	-0.74;-0.72;-0.77	5.59	4.43	0.53597	Immunoglobulin-like fold (1);	0.378812	0.22384	N	0.060761	T	0.62405	0.2425	L	0.27053	0.805	0.33399	D	0.577056	B;B;B;B;B	0.16603	0.008;0.01;0.01;0.018;0.014	B;B;B;B;B	0.16722	0.007;0.011;0.008;0.016;0.008	T	0.64816	-0.6318	10	0.36615	T	0.2	.	12.8769	0.57996	0.8642:0.1358:0.0:0.0	.	34;171;138;138;138	E7EWI2;Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;.;TIE2_HUMAN	S	34;138;138;138	ENSP00000430686:N34S;ENSP00000369375:N138S;ENSP00000383977:N138S	ENSP00000343716:N138S	N	+	2	0	TEK	27158541	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.277000	0.51654	1.015000	0.39444	0.523000	0.50628	AAC		0.353	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			3	42	0	0	0	1	0	3	42				
ADHFE1	137872	broad.mit.edu	37	8	67369316	67369316	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67369316T>G	ENST00000396623.3	+	12	1108	c.1077T>G	c.(1075-1077)ctT>ctG	p.L359L	ADHFE1_ENST00000415254.1_Silent_p.L311L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCATGGCCTTTCTGTGGTGC	0.507																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(1075-1077)ctT>ctG		alcohol dehydrogenase, iron containing, 1							180.0	165.0	170.0					8																	67369316		2203	4300	6503	SO:0001819	synonymous_variant	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67369316T>G	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1077T>G	8.37:g.67369316T>G						ADHFE1_ENST00000415254.1_Silent_p.L311L|ADHFE1_ENST00000496501.1_3'UTR	p.L359L	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		12	1108	+		Lung NSC(129;0.197)	359					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Silent	SNP	ENST00000396623.3	37	c.1077T>G	CCDS6190.2																																																																																				0.507	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		16	149	0	0	0	1	0	16	149				
PNLIP	5406	broad.mit.edu	37	10	118319946	118319946	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118319946C>A	ENST00000369221.2	+	11	1107	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	360	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TATAAGGTATCTGTCACACTG	0.358																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(1078-1080)tCt>tAt		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						94.0	98.0	96.0					10																	118319946		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118319946C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1079C>A	10.37:g.118319946C>A	ENSP00000358223:p.Ser360Tyr						p.S360Y	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	11	1107	+			360			PLAT.		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1079C>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110152	0.37242	.	.	ENSG00000175535	ENST00000369221	T	0.64618	-0.11	5.9	3.01	0.34805	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	1.188040	0.05971	N	0.642441	T	0.75591	0.3870	M	0.80332	2.49	0.20873	N	0.999839	D	0.53462	0.96	P	0.51615	0.675	T	0.61207	-0.7109	10	0.62326	D	0.03	.	13.174	0.59615	0.4193:0.5807:0.0:0.0	.	360	P16233	LIPP_HUMAN	Y	360	ENSP00000358223:S360Y	ENSP00000358223:S360Y	S	+	2	0	PNLIP	118309936	0.025000	0.19082	0.142000	0.22268	0.434000	0.31775	0.856000	0.27818	0.379000	0.24794	0.655000	0.94253	TCT		0.358	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		4	65	1	0	0.000602214	1	0.000649039	4	65				
BOD1L1	259282	broad.mit.edu	37	4	13603268	13603268	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13603268T>C	ENST00000040738.5	-	10	5391	c.5256A>G	c.(5254-5256)gaA>gaG	p.E1752E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1752						nucleus (GO:0005634)	DNA binding (GO:0003677)										TAACCATGCGTTCCTCCCGGG	0.507																																						ENST00000040738.5																			0											c.(5254-5256)gaA>gaG		biorientation of chromosomes in cell division 1-like 1							200.0	194.0	196.0					4																	13603268		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603268T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5256A>G	4.37:g.13603268T>C							p.E1752E	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5391	-			1752					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5256A>G	CCDS3411.2																																																																																				0.507	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		83	126	0	0	0	1	0	83	126				
RNF149	284996	broad.mit.edu	37	2	101898453	101898453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101898453T>C	ENST00000295317.3	-	6	1134	c.1027A>G	c.(1027-1029)Aat>Gat	p.N343D		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	343					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGACTCAAATTTGCAGCTGGA	0.488																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1027-1029)Aat>Gat		ring finger protein 149							133.0	124.0	127.0					2																	101898453		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101898453T>C	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1027A>G	2.37:g.101898453T>C	ENSP00000295317:p.Asn343Asp						p.N343D	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			6	1134	-			343					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1027A>G	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651895	0.29336	.	.	ENSG00000163162	ENST00000295317	T	0.08720	3.06	5.78	0.838	0.18902	.	0.667620	0.14938	N	0.289678	T	0.04497	0.0123	N	0.10809	0.05	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37865	-0.9687	10	0.49607	T	0.09	.	8.383	0.32483	0.0:0.2946:0.0:0.7054	.	343	Q8NC42	RN149_HUMAN	D	343	ENSP00000295317:N343D	ENSP00000295317:N343D	N	-	1	0	RNF149	101264885	0.003000	0.15002	0.000000	0.03702	0.021000	0.10359	1.292000	0.33342	-0.077000	0.12752	-0.371000	0.07208	AAT		0.488	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		35	59	0	0	0	1	0	35	59				
BEX4	56271	broad.mit.edu	37	X	102471115	102471115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102471115C>A	ENST00000372695.5	+	3	269	c.34C>A	c.(34-36)Ctc>Atc	p.L12I	BEX4_ENST00000372691.3_Missense_Mutation_p.L12I	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	12						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GGCAAACAATCTCAACGGGGA	0.512																																						ENST00000372695.5																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						c.(34-36)Ctc>Atc		brain expressed, X-linked 4							35.0	38.0	37.0					X																	102471115		2189	4268	6457	SO:0001583	missense	56271					cytoplasm|nucleus		g.chrX:102471115C>A	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.34C>A	X.37:g.102471115C>A	ENSP00000361780:p.Leu12Ile					BEX4_ENST00000372691.3_Missense_Mutation_p.L12I	p.L12I	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN			3	269	+			12						Missense_Mutation	SNP	ENST00000372695.5	37	c.34C>A	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795294	0.31777	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.15603	2.41;2.41	4.02	0.0962	0.14489	.	0.473208	0.15838	N	0.242197	T	0.08133	0.0203	N	0.21282	0.65	0.09310	N	1	B	0.27882	0.192	B	0.18561	0.022	T	0.24333	-1.0163	10	0.52906	T	0.07	.	1.7972	0.03064	0.3627:0.353:0.1744:0.1099	.	12	Q9NWD9	BEX4_HUMAN	I	12	ENSP00000361780:L12I;ENSP00000361776:L12I	ENSP00000361776:L12I	L	+	1	0	BEX4	102357771	0.003000	0.15002	0.002000	0.10522	0.083000	0.17756	-0.101000	0.10973	-0.119000	0.11830	0.600000	0.82982	CTC		0.512	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		5	46	1	0	8.12818e-05	1	8.99451e-05	5	46				
CNTF	1270	broad.mit.edu	37	11	58391922	58391922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58391922G>A	ENST00000361987.4	+	2	610	c.530G>A	c.(529-531)cGt>cAt	p.R177H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CATGACCTTCGTTTCATTTCT	0.463																																						ENST00000361987.4																			0				NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10						c.(529-531)cGt>cAt		ciliary neurotrophic factor							100.0	103.0	102.0					11																	58391922		2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391922G>A	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.530G>A	11.37:g.58391922G>A	ENSP00000355370:p.Arg177His					ZFP91-CNTF_ENST00000389919.4_3'UTR	p.R177H	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN			2	610	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	177					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.530G>A	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921482	0.52653	.	.	ENSG00000242689	ENST00000361987	T	0.46063	0.88	5.48	5.48	0.80851	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.59715	0.2214	M	0.69823	2.125	0.36772	D	0.883858	D	0.89917	1.0	D	0.74674	0.984	T	0.65125	-0.6244	9	0.39692	T	0.17	-9.2467	10.3798	0.44104	0.0893:0.0:0.9107:0.0	.	177	P26441	CNTF_HUMAN	H	177	ENSP00000355370:R177H	ENSP00000447778:R177H	R	+	2	0	CNTF	58148498	0.798000	0.28890	0.757000	0.31301	0.980000	0.70556	2.703000	0.47110	2.575000	0.86900	0.650000	0.86243	CGT		0.463	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		47	55	0	0	0	1	0	47	55				
CCDC40	55036	broad.mit.edu	37	17	78023947	78023947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023947C>T	ENST00000397545.4	+	7	1051	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CCDC40_ENST00000269318.5_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374876.4_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q342*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	342					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTACACCTGCAGAAGCTGCT	0.627																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1024-1026)Cag>Tag		coiled-coil domain containing 40							21.0	25.0	24.0					17																	78023947		2135	4245	6380	SO:0001587	stop_gained	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78023947C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1024C>T	17.37:g.78023947C>T	ENSP00000380679:p.Gln342*					CCDC40_ENST00000374876.4_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000269318.5_Nonsense_Mutation_p.Q342*	p.Q342*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		7	1051	+	all_neural(118;0.167)		342					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Nonsense_Mutation	SNP	ENST00000397545.4	37	c.1024C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791309	0.70452	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-49.7144	15.7201	0.77700	0.0:0.8633:0.1367:0.0	.	.	.	.	X	342	.	ENSP00000269318:Q342X	Q	+	1	0	CCDC40	75638542	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.816000	0.55658	2.385000	0.81259	0.655000	0.94253	CAG		0.627	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		10	14	0	0	0	1	0	10	14				
PKHD1L1	93035	broad.mit.edu	37	8	110535097	110535097	+	Missense_Mutation	SNP	C	C	T	rs534209760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110535097C>T	ENST00000378402.5	+	75	12412	c.12308C>T	c.(12307-12309)tCg>tTg	p.S4103L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4103					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGCAGCCTTCGGTAAAGGCA	0.458										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(12307-12309)tCg>tTg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							42.0	46.0	45.0					8																	110535097		2177	4286	6463	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110535097C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12308C>T	8.37:g.110535097C>T	ENSP00000367655:p.Ser4103Leu	HNSCC(38;0.096)					p.S4103L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		75	12412	+			4103					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.12308C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803219	0.70682	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.86297	-2.1;-1.92	5.96	5.96	0.96718	.	0.386736	0.25405	N	0.030904	D	0.92057	0.7483	M	0.75447	2.3	0.29841	N	0.829194	D	0.69078	0.997	P	0.57960	0.83	D	0.89234	0.3579	10	0.52906	T	0.07	.	17.913	0.88940	0.0:1.0:0.0:0.0	.	4103	Q86WI1	PKHL1_HUMAN	L	4103;1031	ENSP00000367655:S4103L;ENSP00000437376:S1031L	ENSP00000367655:S4103L	S	+	2	0	PKHD1L1	110604273	0.808000	0.29022	1.000000	0.80357	0.961000	0.63080	1.731000	0.38135	2.831000	0.97527	0.650000	0.86243	TCG		0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	10	0	0	0	1	0	4	10				
VASH1	22846	broad.mit.edu	37	14	77236357	77236357	+	Missense_Mutation	SNP	C	C	T	rs145801473		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77236357C>T	ENST00000167106.4	+	2	994	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	VASH1_ENST00000554237.1_Missense_Mutation_p.R121C|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	121					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TGTCCCTGAGCGCCTGGAAGC	0.592																																						ENST00000167106.4																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10						c.(361-363)Cgc>Tgc		vasohibin 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	129.0	134.0		361	4.0	1.0	14	dbSNP_134	134	0,8600		0,0,4300	no	missense	VASH1	NM_014909.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	121/366	77236357	1,13005	2203	4300	6503	SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77236357C>T	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.361C>T	14.37:g.77236357C>T	ENSP00000167106:p.Arg121Cys					VASH1_ENST00000554237.1_Missense_Mutation_p.R121C|VASH1_ENST00000556038.1_3'UTR	p.R121C	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	2	994	+			121					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.361C>T	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997854	0.74818	2.27E-4	0.0	ENSG00000071246	ENST00000167106;ENST00000554237	.	.	.	4.92	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.95;0.982	T	0.66089	-0.6010	9	0.38643	T	0.18	-4.0131	9.5316	0.39198	0.0:0.8398:0.0:0.1602	.	121;121	Q7L8A9;Q7L8A9-2	VASH1_HUMAN;.	C	121	.	ENSP00000167106:R121C	R	+	1	0	VASH1	76306110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.198000	0.43158	0.655000	0.94253	CGC		0.592	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		42	46	0	0	0	1	0	42	46				
GAS2L2	246176	broad.mit.edu	37	17	34079532	34079532	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34079532T>C	ENST00000254466.6	-	1	365	c.338A>G	c.(337-339)aAt>aGt	p.N113S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.N113S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	113	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTAGAGACATTGTCCCTGGC	0.597																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(337-339)aAt>aGt		growth arrest-specific 2 like 2							128.0	130.0	129.0					17																	34079532		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079532T>C	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.338A>G	17.37:g.34079532T>C	ENSP00000254466:p.Asn113Ser					GAS2L2_ENST00000587565.1_Missense_Mutation_p.N113S	p.N113S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	365	-		Ovarian(249;0.17)	113			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.338A>G	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643281	0.87859	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.69926	-0.44	5.46	5.46	0.80206	Calponin homology domain (5);	0.124785	0.53938	D	0.000045	D	0.86883	0.6040	H	0.95816	3.725	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.90656	0.4586	10	0.87932	D	0	-23.9521	14.8606	0.70379	0.0:0.0:0.0:1.0	.	113	Q8NHY3	GA2L2_HUMAN	S	113	ENSP00000254466:N113S	ENSP00000254466:N113S	N	-	2	0	GAS2L2	31103645	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.430000	0.80321	2.296000	0.77279	0.482000	0.46254	AAT		0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		9	106	0	0	0	1	0	9	106				
STAT5B	6777	broad.mit.edu	37	17	40379676	40379676	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40379676C>A	ENST00000293328.3	-	3	324	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	52					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TAATGTTCTCCTGTGGATTAT	0.473																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(154-156)caG>caT		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						51.0	48.0	49.0					17																	40379676		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40379676C>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.156G>T	17.37:g.40379676C>A	ENSP00000293328:p.Gln52His						p.Q52H	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	3	324	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	52					Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.156G>T	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749682	0.69533	.	.	ENSG00000173757	ENST00000293328;ENST00000415845	T;T	0.53423	0.62;0.62	5.44	4.45	0.53987	STAT transcription factor, protein interaction (4);	0.100925	0.64402	D	0.000001	T	0.60625	0.2283	M	0.64567	1.98	0.53005	D	0.999968	B;P	0.40731	0.251;0.728	B;P	0.53912	0.2;0.737	T	0.61647	-0.7020	10	0.59425	D	0.04	-5.8282	14.7866	0.69808	0.0:0.9295:0.0:0.0705	.	52;52	Q8WW55;P51692	.;STA5B_HUMAN	H	52	ENSP00000293328:Q52H;ENSP00000398379:Q52H	ENSP00000293328:Q52H	Q	-	3	2	STAT5B	37633202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.318000	0.43779	2.835000	0.97688	0.591000	0.81541	CAG		0.473	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		4	37	1	0	0.014758	1	0.0152625	4	37				
AP1G1	164	broad.mit.edu	37	16	71768515	71768515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71768515C>T	ENST00000299980.4	-	22	2805	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	AP1G1_ENST00000569748.1_Silent_p.Q788Q|AP1G1_ENST00000423132.2_Silent_p.Q791Q|AP1G1_ENST00000393512.3_Silent_p.Q791Q|AP1G1_ENST00000433195.2_Silent_p.Q811Q|AP1G1_ENST00000564155.1_Silent_p.Q213Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	788	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TACTCACCTTCTGAGGGTTCA	0.428																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(2362-2364)caG>caA		adaptor-related protein complex 1, gamma 1 subunit							270.0	270.0	270.0					16																	71768515		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71768515C>T	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2364G>A	16.37:g.71768515C>T						AP1G1_ENST00000433195.2_Silent_p.Q811Q|AP1G1_ENST00000423132.2_Silent_p.Q791Q|AP1G1_ENST00000393512.3_Silent_p.Q791Q|AP1G1_ENST00000564155.1_Silent_p.Q213Q|AP1G1_ENST00000569748.1_Silent_p.Q788Q	p.Q788Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			22	2805	-		Ovarian(137;0.125)	788			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.2364G>A	CCDS32480.1																																																																																				0.428	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			145	210	0	0	0	1	0	145	210				
CORO2B	10391	broad.mit.edu	37	15	69003117	69003117	+	Missense_Mutation	SNP	C	C	T	rs144874326		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69003117C>T	ENST00000566799.1	+	4	409	c.380C>T	c.(379-381)aCg>aTg	p.T127M	CORO2B_ENST00000543950.1_Missense_Mutation_p.T122M|CORO2B_ENST00000540068.1_Missense_Mutation_p.T122M|CORO2B_ENST00000261861.5_Missense_Mutation_p.T122M			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	127					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGAACATGACGGAGGCGCTC	0.657																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(364-366)aCg>aTg		coronin, actin binding protein, 2B		C	MET/THR,MET/THR,MET/THR	0,4396		0,0,2198	37.0	32.0	34.0		365,365,380	5.7	1.0	15	dbSNP_134	34	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	CORO2B	NM_001190456.1,NM_001190457.1,NM_006091.4	81,81,81	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	122/476,122/476,127/481	69003117	1,12989	2198	4297	6495	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69003117C>T	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.380C>T	15.37:g.69003117C>T	ENSP00000454783:p.Thr127Met					CORO2B_ENST00000540068.1_Missense_Mutation_p.T122M|CORO2B_ENST00000261861.5_Missense_Mutation_p.T122M|CORO2B_ENST00000566799.1_Missense_Mutation_p.T127M	p.T122M	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			4	719	+			127					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.365C>T	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169776	0.57584	0.0	1.16E-4	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.06933	3.24;3.24	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100329	0.64402	D	0.000002	T	0.22205	0.0535	M	0.85777	2.775	0.58432	D	0.999991	P	0.38250	0.624	B	0.42163	0.378	T	0.01090	-1.1455	10	0.62326	D	0.03	-16.8834	18.8081	0.92047	0.0:1.0:0.0:0.0	.	127	Q9UQ03	COR2B_HUMAN	M	127;122;122	ENSP00000446250:T122M;ENSP00000443819:T122M	ENSP00000261861:T127M	T	+	2	0	CORO2B	66790171	1.000000	0.71417	0.983000	0.44433	0.478000	0.33099	4.732000	0.62029	2.677000	0.91161	0.655000	0.94253	ACG		0.657	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		7	12	0	0	0	1	0	7	12				
KCNF1	3754	broad.mit.edu	37	2	11053694	11053694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053694C>T	ENST00000295082.1	+	1	1632	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	381					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCAAGACCACGCTGGGCAAG	0.572																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1141-1143)aCg>aTg		potassium voltage-gated channel, subfamily F, member 1							141.0	105.0	117.0					2																	11053694		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053694C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1142C>T	2.37:g.11053694C>T	ENSP00000295082:p.Thr381Met						p.T381M	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1632	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		381					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.1142C>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	c	16.84	3.234943	0.58886	.	.	ENSG00000162975	ENST00000295082	D	0.97553	-4.43	5.32	5.32	0.75619	Ion transport (1);	0.048980	0.85682	D	0.000000	D	0.98077	0.9366	M	0.64260	1.97	0.58432	D	0.999997	D	0.89917	1.0	D	0.79784	0.993	D	0.98476	1.0603	10	0.54805	T	0.06	.	19.3693	0.94479	0.0:1.0:0.0:0.0	.	381	Q9H3M0	KCNF1_HUMAN	M	381	ENSP00000295082:T381M	ENSP00000295082:T381M	T	+	2	0	KCNF1	10971145	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	5.880000	0.69698	2.640000	0.89533	0.651000	0.88453	ACG		0.572	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		10	24	0	0	0	1	0	10	24				
GABRG1	2565	broad.mit.edu	37	4	46067586	46067586	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067586T>A	ENST00000295452.4	-	4	504	c.337A>T	c.(337-339)Ata>Tta	p.I113L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	113					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCAAAAATTATATCTATTGTA	0.274																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(337-339)Ata>Tta		gamma-aminobutyric acid (GABA) A receptor, gamma 1							28.0	29.0	29.0					4																	46067586		2196	4293	6489	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067586T>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.337A>T	4.37:g.46067586T>A	ENSP00000295452:p.Ile113Leu						p.I113L	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	504	-			113					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.337A>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649141	0.87958	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78246	-1.16	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	L	0.46670	1.46	0.53688	D	0.999971	D	0.71674	0.998	D	0.87578	0.998	D	0.85909	0.1439	10	0.87932	D	0	.	14.3199	0.66479	0.0:0.0:0.0:1.0	.	113	Q8N1C3	GBRG1_HUMAN	L	113	ENSP00000295452:I113L	ENSP00000295452:I113L	I	-	1	0	GABRG1	45762343	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.993000	0.88291	2.032000	0.59987	0.416000	0.27883	ATA		0.274	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		14	7	0	0	0	1	0	14	7				
ZBTB3	79842	broad.mit.edu	37	11	62519647	62519647	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62519647G>T	ENST00000394807.3	-	2	1765	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGGGAGCCAGGGAGAGGCTG	0.557																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1639-1641)cCt>cAt		zinc finger and BTB domain containing 3							81.0	79.0	80.0					11																	62519647		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519647G>T	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1640C>A	11.37:g.62519647G>T	ENSP00000378286:p.Pro547His						p.P547H	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1765	-			547						Missense_Mutation	SNP	ENST00000394807.3	37	c.1640C>A	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	6.326	0.428204	0.11987	.	.	ENSG00000185670	ENST00000394807	T	0.17370	2.28	4.62	2.43	0.29744	.	0.168451	0.37906	N	0.001892	T	0.08447	0.0210	N	0.08118	0	0.20563	N	0.999886	B	0.13594	0.008	B	0.14578	0.011	T	0.29488	-1.0010	10	0.36615	T	0.2	.	10.3352	0.43846	0.0:0.0:0.6104:0.3896	.	547	Q9H5J0	ZBTB3_HUMAN	H	547	ENSP00000378286:P547H	ENSP00000378286:P547H	P	-	2	0	ZBTB3	62276223	0.877000	0.30153	0.994000	0.49952	0.938000	0.57974	2.139000	0.42149	0.904000	0.36572	0.561000	0.74099	CCT		0.557	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		4	61	1	0	1.23904e-05	1	1.39987e-05	4	61				
CTNNAL1	8727	broad.mit.edu	37	9	111732743	111732743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111732743G>A	ENST00000325551.4	-	10	1465	c.1379C>T	c.(1378-1380)aCa>aTa	p.T460I	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.T460I	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	460					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGAGGTTCTGTCCCAGATAT	0.398																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1378-1380)aCa>aTa		catenin (cadherin-associated protein), alpha-like 1							153.0	120.0	131.0					9																	111732743		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111732743G>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1379C>T	9.37:g.111732743G>A	ENSP00000320434:p.Thr460Ile					CTNNAL1_ENST00000325551.4_Missense_Mutation_p.T460I|CTNNAL1_ENST00000325580.6_Intron	p.T460I			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	10	1458	-			460					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1379C>T	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090963	0.76756	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.47528	0.84;0.84	5.61	4.72	0.59763	.	0.045307	0.85682	D	0.000000	T	0.66538	0.2799	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.71870	0.974;0.975;0.974	T	0.68010	-0.5522	10	0.44086	T	0.13	-16.1256	12.172	0.54163	0.0826:0.0:0.9174:0.0	.	460;460;460	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	I	460	ENSP00000363723:T460I;ENSP00000320434:T460I	ENSP00000320434:T460I	T	-	2	0	CTNNAL1	110772564	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.036000	0.88901	1.373000	0.46208	0.557000	0.71058	ACA		0.398	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		6	29	0	0	0	1	0	6	29				
OR6B2	389090	broad.mit.edu	37	2	240969099	240969099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240969099C>T	ENST00000402971.2	-	1	807	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTATAGAAGACGGTGACCACG	0.577																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(748-750)Gtc>Atc		olfactory receptor, family 6, subfamily B, member 2							69.0	72.0	71.0					2																	240969099		2050	4201	6251	SO:0001583	missense	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969099C>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.748G>A	2.37:g.240969099C>T	ENSP00000384563:p.Val250Ile						p.V250I	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	807	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	250					B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	c.748G>A	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.814051	0.00073	.	.	ENSG00000182083	ENST00000402971	T	0.00063	8.78	4.2	-1.52	0.08637	GPCR, rhodopsin-like superfamily (1);	1.190250	0.06363	N	0.712077	T	0.00039	0.0001	N	0.00656	-1.285	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.30090	-0.9990	10	0.02654	T	1	.	1.1298	0.01743	0.3024:0.0904:0.2914:0.3158	.	250	Q6IFH4	OR6B2_HUMAN	I	250	ENSP00000384563:V250I	ENSP00000384563:V250I	V	-	1	0	OR6B2	240617772	0.000000	0.05858	0.045000	0.18777	0.021000	0.10359	-2.292000	0.01146	-0.345000	0.08325	-1.191000	0.01696	GTC		0.577	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		21	25	0	0	0	1	0	21	25				
SCUBE1	80274	broad.mit.edu	37	22	43606935	43606935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43606935G>A	ENST00000360835.4	-	18	2502	c.2376C>T	c.(2374-2376)caC>caT	p.H792H	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	792					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CACTTTTGCAGTGTGTGACGT	0.637																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2374-2376)caC>caT		signal peptide, CUB domain, EGF-like 1							172.0	156.0	162.0					22																	43606935		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43606935G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2376C>T	22.37:g.43606935G>A							p.H792H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			18	2502	-		all_neural(38;0.0414)|Ovarian(80;0.07)	792					Q5R336	Silent	SNP	ENST00000360835.4	37	c.2376C>T	CCDS14048.1																																																																																				0.637	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		12	23	0	0	0	1	0	12	23				
KIAA1958	158405	broad.mit.edu	37	9	115336718	115336718	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115336718T>C	ENST00000337530.6	+	2	654	c.358T>C	c.(358-360)Tgt>Cgt	p.C120R	KIAA1958_ENST00000536272.1_Missense_Mutation_p.C120R|KIAA1958_ENST00000374244.3_Missense_Mutation_p.C120R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGAGACTCTTGTGACTTCTC	0.473																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(358-360)Tgt>Cgt		KIAA1958							158.0	152.0	154.0					9																	115336718		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336718T>C	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.358T>C	9.37:g.115336718T>C	ENSP00000336940:p.Cys120Arg					KIAA1958_ENST00000536272.1_Missense_Mutation_p.C120R|KIAA1958_ENST00000374244.3_Missense_Mutation_p.C120R	p.C120R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	654	+			120					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.358T>C	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399796	0.62177	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.986	T	0.68484	-0.5396	9	0.56958	D	0.05	-25.8562	16.6288	0.85011	0.0:0.0:0.0:1.0	.	120;120	B7ZKW6;Q8N8K9	.;K1958_HUMAN	R	120	.	ENSP00000336940:C120R	C	+	1	0	KIAA1958	114376539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.683000	0.74533	2.326000	0.78906	0.533000	0.62120	TGT		0.473	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		42	59	0	0	0	1	0	42	59				
CROCCP3	114819	broad.mit.edu	37	1	16810883	16810883	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16810883G>A	ENST00000263511.4	-	0	1648					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GAGAGCCCCCGCAGGCTGCCG	0.746																																						ENST00000263511.4																			0																																																			0							g.chr1:16810883G>A	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16810883G>A								NR_023386.1						0	1648	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.746	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		3	4	0	0	0	1	0	3	4				
SPINT4	391253	broad.mit.edu	37	20	44351048	44351048	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44351048C>A	ENST00000279058.3	+	1	59	c.42C>A	c.(40-42)atC>atA	p.I14I		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	14						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GATTCTTCATCTTCTGCTCAT	0.413																																						ENST00000279058.3																			0				lung(6)|ovary(1)|skin(1)	8						c.(40-42)atC>atA		serine peptidase inhibitor, Kunitz type 4							176.0	161.0	166.0					20																	44351048		2203	4300	6503	SO:0001819	synonymous_variant	391253					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44351048C>A	AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 137"", ""serine peptidase inhibitor, Kunitz type 4"""	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.42C>A	20.37:g.44351048C>A							p.I14I	NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN			1	59	+		Myeloproliferative disorder(115;0.028)	14					Q9BQN3	Silent	SNP	ENST00000279058.3	37	c.42C>A	CCDS33477.1																																																																																				0.413	SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2	XM_372869		21	54	1	0	4.26978e-12	1	5.35206e-12	21	54				
UBR1	197131	broad.mit.edu	37	15	43290423	43290423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43290423G>A	ENST00000290650.4	-	33	3778	c.3700C>T	c.(3700-3702)Cgg>Tgg	p.R1234W	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1234					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATCCACCGTGCCAGGGTC	0.348																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(3700-3702)Cgg>Tgg		ubiquitin protein ligase E3 component n-recognin 1							61.0	65.0	64.0					15																	43290423		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43290423G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3700C>T	15.37:g.43290423G>A	ENSP00000290650:p.Arg1234Trp					UBR1_ENST00000382177.2_3'UTR	p.R1234W	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	33	3778	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1234					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.3700C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993601	0.54041	.	.	ENSG00000159459	ENST00000290650	T	0.49432	0.78	5.29	3.41	0.39046	.	0.410133	0.26275	N	0.025303	T	0.36963	0.0986	L	0.47716	1.5	0.80722	D	1	D	0.56968	0.978	B	0.39660	0.306	T	0.25082	-1.0142	10	0.72032	D	0.01	-5.4774	8.4819	0.33047	0.0752:0.0:0.5992:0.3256	.	1234	Q8IWV7	UBR1_HUMAN	W	1234	ENSP00000290650:R1234W	ENSP00000290650:R1234W	R	-	1	2	UBR1	41077715	0.996000	0.38824	0.654000	0.29608	0.977000	0.68977	3.553000	0.53713	0.799000	0.34018	0.650000	0.86243	CGG		0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		11	23	0	0	0	1	0	11	23				
BCKDK	10295	broad.mit.edu	37	16	31122664	31122664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31122664G>T	ENST00000394951.1	+	11	1512	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Missense_Mutation_p.D297Y|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Missense_Mutation_p.D297Y			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	297	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CAATGTCCCAGATGTGGTCAT	0.547																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(889-891)Gat>Tat		branched chain ketoacid dehydrogenase kinase							170.0	133.0	146.0					16																	31122664		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122664G>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.889G>T	16.37:g.31122664G>T	ENSP00000378405:p.Asp297Tyr					BCKDK_ENST00000394950.3_Missense_Mutation_p.D297Y|BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Missense_Mutation_p.D297Y	p.D297Y			O14874	BCKD_HUMAN			11	1512	+			297			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.889G>T	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271778	0.80469	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950	T;T;T	0.55588	0.51;0.51;0.51	6.08	5.13	0.70059	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	L	0.55017	1.72	0.80722	D	1	D	0.61697	0.99	P	0.59288	0.855	T	0.67730	-0.5595	10	0.72032	D	0.01	-24.4196	14.4049	0.67075	0.0715:0.0:0.9285:0.0	.	297	O14874	BCKD_HUMAN	Y	297	ENSP00000378405:D297Y;ENSP00000219794:D297Y;ENSP00000378404:D297Y	ENSP00000219794:D297Y	D	+	1	0	BCKDK	31030165	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.056000	0.93881	1.595000	0.50050	0.655000	0.94253	GAT		0.547	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		15	41	1	0	8.34094e-07	1	9.69005e-07	15	41				
SLC1A2	6506	broad.mit.edu	37	11	35314060	35314060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35314060G>A	ENST00000278379.3	-	7	1147	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	SLC1A2_ENST00000395753.1_Missense_Mutation_p.P280S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.P280S|SLC1A2_ENST00000606205.1_Missense_Mutation_p.P289S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	289				AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532). {ECO:0000305}.	adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			ATACCCAGGGGAGAGTACCTG	0.468																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(865-867)Ccc>Tcc		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						81.0	72.0	75.0					11																	35314060		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35314060G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.865C>T	11.37:g.35314060G>A	ENSP00000278379:p.Pro289Ser					SLC1A2_ENST00000606205.1_Missense_Mutation_p.P289S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.P280S|SLC1A2_ENST00000395753.1_Missense_Mutation_p.P280S	p.P289S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1147	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	289	AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532).				B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.865C>T	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928451	0.92389	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	D;D;D	0.90844	-2.74;-2.74;-2.74	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.97551	0.9198	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.98834	1.0752	10	0.72032	D	0.01	-18.0513	19.3676	0.94469	0.0:0.0:1.0:0.0	.	289;289	B4DQE9;P43004	.;EAA2_HUMAN	S	289;280;280	ENSP00000278379:P289S;ENSP00000379099:P280S;ENSP00000379102:P280S	ENSP00000278379:P289S	P	-	1	0	SLC1A2	35270636	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	CCC		0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		15	23	0	0	0	1	0	15	23				
EEF1B2	1933	broad.mit.edu	37	2	207027218	207027218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207027218G>A	ENST00000392222.2	+	5	778	c.403G>A	c.(403-405)Gca>Aca	p.A135T	EEF1B2_ENST00000236957.5_Missense_Mutation_p.A135T|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.A135T|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	135					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TTTAGAACCTGCACTTGTTGC	0.368																																						ENST00000392222.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(403-405)Gca>Aca		eukaryotic translation elongation factor 1 beta 2							110.0	119.0	116.0					2																	207027218		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207027218G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.403G>A	2.37:g.207027218G>A	ENSP00000376056:p.Ala135Thr					EEF1B2_ENST00000236957.5_Missense_Mutation_p.A135T|EEF1B2_ENST00000392221.1_Missense_Mutation_p.A135T	p.A135T	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			5	778	+			135					A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.403G>A	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451501	0.43531	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	T;T;T	0.43688	0.94;0.94;0.94	5.24	5.24	0.73138	Translation elongation factor EF1B/ribosomal protein S6 (1);	0.102343	0.64402	D	0.000002	T	0.39733	0.1089	L	0.45470	1.425	0.48901	D	0.999729	B	0.06786	0.001	B	0.13407	0.009	T	0.16512	-1.0400	10	0.23302	T	0.38	-6.8073	18.8215	0.92099	0.0:0.0:1.0:0.0	.	135	P24534	EF1B_HUMAN	T	135	ENSP00000236957:A135T;ENSP00000376055:A135T;ENSP00000376056:A135T	ENSP00000236957:A135T	A	+	1	0	EEF1B2	206735463	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.169000	0.64984	2.450000	0.82876	0.655000	0.94253	GCA		0.368	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		7	155	0	0	0	1	0	7	155				
ZNF226	7769	broad.mit.edu	37	19	44679883	44679883	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44679883C>T	ENST00000590089.1	+	7	835	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ZNF226_ENST00000337433.5_Silent_p.P156P|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.P156P			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CAGATGGTCCCAATAATACTG	0.398																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(466-468)ccC>ccT		zinc finger protein 226							34.0	32.0	33.0					19																	44679883		1825	4079	5904	SO:0001819	synonymous_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44679883C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.468C>T	19.37:g.44679883C>T						ZNF226_ENST00000454662.2_Silent_p.P156P|ZNF226_ENST00000337433.5_Silent_p.P156P|ZNF226_ENST00000588883.1_3'UTR	p.P156P			Q9NYT6	ZN226_HUMAN			7	835	+		Prostate(69;0.0352)|all_neural(266;0.202)	156					Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	c.468C>T	CCDS46102.1																																																																																				0.398	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			9	13	0	0	0	1	0	9	13				
ADIPOR2	79602	broad.mit.edu	37	12	1889674	1889674	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1889674T>A	ENST00000357103.4	+	5	772	c.521T>A	c.(520-522)tTt>tAt	p.F174Y		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	174					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AATATCTCCTTTGTGGCCCCT	0.418																																						ENST00000357103.4																			0				endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12						c.(520-522)tTt>tAt		adiponectin receptor 2							150.0	153.0	152.0					12																	1889674		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889674T>A	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.521T>A	12.37:g.1889674T>A	ENSP00000349616:p.Phe174Tyr						p.F174Y	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	772	+	Ovarian(42;0.107)		174					Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.521T>A	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942681	0.92526	.	.	ENSG00000006831	ENST00000357103	T	0.29142	1.58	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	N	0.17312	0.475	0.80722	D	1	P	0.41848	0.763	B	0.44163	0.443	T	0.03193	-1.1062	10	0.02654	T	1	-17.2805	16.255	0.82510	0.0:0.0:0.0:1.0	.	174	Q86V24	ADR2_HUMAN	Y	174	ENSP00000349616:F174Y	ENSP00000349616:F174Y	F	+	2	0	ADIPOR2	1759935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.037000	0.88933	2.240000	0.73641	0.533000	0.62120	TTT		0.418	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		13	185	0	0	0	1	0	13	185				
ABCC9	10060	broad.mit.edu	37	12	21998712	21998712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21998712C>A	ENST00000261201.4	-	24	2920	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M	ABCC9_ENST00000261200.4_Missense_Mutation_p.R974M|ABCC9_ENST00000345162.2_Missense_Mutation_p.R938M|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	974					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATTTTAGTCCTGAGCCTCAT	0.443																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2920-2922)aGg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						162.0	125.0	137.0					12																	21998712		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21998712C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2921G>T	12.37:g.21998712C>A	ENSP00000261201:p.Arg974Met					ABCC9_ENST00000261201.4_Missense_Mutation_p.R974M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R938M	p.R974M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			24	2920	-			974					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2921G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604478	0.87157	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92595	-3.06;-2.92;-3.07;-3.04	5.28	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);	0.048314	0.85682	D	0.000000	D	0.93575	0.7949	M	0.71581	2.175	0.58432	D	0.999996	P;P	0.50819	0.939;0.926	P;P	0.49561	0.615;0.548	D	0.93154	0.6552	10	0.45353	T	0.12	-16.3785	19.1181	0.93350	0.0:1.0:0.0:0.0	.	974;974	O60706;O60706-2	ABCC9_HUMAN;.	M	974;601;974;938	ENSP00000261200:R974M;ENSP00000440521:R601M;ENSP00000261201:R974M;ENSP00000261202:R938M	ENSP00000261200:R974M	R	-	2	0	ABCC9	21889979	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.756000	0.94617	0.655000	0.94253	AGG		0.443	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		15	28	1	0	2.23348e-06	1	2.57349e-06	15	28				
PMEL	6490	broad.mit.edu	37	12	56351341	56351341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351341C>T	ENST00000548747.1	-	6	1408	c.746G>A	c.(745-747)gGc>gAc	p.G249D	PMEL_ENST00000550447.1_Intron|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000552882.1_Missense_Mutation_p.G249D|PMEL_ENST00000360714.4_Missense_Mutation_p.G249D|PMEL_ENST00000548493.1_Missense_Mutation_p.G249D|PMEL_ENST00000539511.1_Missense_Mutation_p.G163D|PMEL_ENST00000550464.1_Missense_Mutation_p.G163D|PMEL_ENST00000449260.2_Missense_Mutation_p.G249D|PMEL_ENST00000536427.1_Missense_Mutation_p.G249D			P40967	PMEL_HUMAN	premelanosome protein	249					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCCAGATAGCCACTGGGGTC	0.562																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(745-747)gGc>gAc		premelanosome protein							114.0	117.0	116.0					12																	56351341		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351341C>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.746G>A	12.37:g.56351341C>T	ENSP00000448828:p.Gly249Asp					PMEL_ENST00000548493.1_Missense_Mutation_p.G249D|PMEL_ENST00000449260.2_Missense_Mutation_p.G249D|PMEL_ENST00000360714.4_Missense_Mutation_p.G249D|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.G163D|PMEL_ENST00000552882.1_Missense_Mutation_p.G249D|PMEL_ENST00000536427.1_Missense_Mutation_p.G249D|PMEL_ENST00000539511.1_Missense_Mutation_p.G163D	p.G249D			P40967	PMEL_HUMAN			6	1408	-			249					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.746G>A	CCDS8897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.00|12.00	1.806285|1.806285	0.31961|0.31961	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000547137;ENST00000546543|ENST00000549404	T;T;T;T;T;T;T;T;T;T|.	0.14266|.	3.15;3.14;3.16;3.14;3.14;3.15;2.79;3.16;2.52;3.12|.	5.6|5.6	5.6|5.6	0.85130|0.85130	PKD/Chitinase domain (1);PKD domain (2);|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|.	0.49287|.	0.1548|.	L|L	0.51422|0.51422	1.61|1.61	0.31486|0.31486	N|N	0.666544|0.666544	D;D;D|.	0.89917|.	0.999;0.998;1.0|.	D;D;D|.	0.77004|.	0.957;0.941;0.989|.	T|.	0.55237|.	-0.8172|.	10|.	0.05436|.	T|.	0.98|.	-11.8478|-11.8478	8.9901|8.9901	0.36019|0.36019	0.0:0.8419:0.0:0.1581|0.0:0.8419:0.0:0.1581	.|.	163;249;249|.	P40967-3;P40967-2;P40967|.	.;.;PMEL_HUMAN|.	D|X	249;249;163;249;249;249;249;163;195;200|136	ENSP00000402758:G249D;ENSP00000449690:G249D;ENSP00000450036:G163D;ENSP00000448828:G249D;ENSP00000447374:G249D;ENSP00000353940:G249D;ENSP00000438695:G249D;ENSP00000445005:G163D;ENSP00000448849:G195D;ENSP00000446662:G200D|.	ENSP00000353940:G249D|.	G|W	-|-	2|3	0|0	PMEL|PMEL	54637608|54637608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.251000|2.251000	0.43187|0.43187	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.562	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		10	130	0	0	0	1	0	10	130				
MUC17	140453	broad.mit.edu	37	7	100685598	100685598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100685598G>T	ENST00000306151.4	+	3	10965	c.10901G>T	c.(10900-10902)aGc>aTc	p.S3634I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3634	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGTAAGCACTCCATTA	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10900-10902)aGc>aTc		mucin 17, cell surface associated							164.0	153.0	156.0					7																	100685598		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685598G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10901G>T	7.37:g.100685598G>T	ENSP00000302716:p.Ser3634Ile						p.S3634I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10965	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3634			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10901G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	6.759	0.508821	0.12883	.	.	ENSG00000169876	ENST00000306151	T	0.03065	4.06	1.63	1.63	0.23807	.	.	.	.	.	T	0.07593	0.0191	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	D	0.78314	0.991	T	0.39820	-0.9595	9	0.48119	T	0.1	.	8.8105	0.34965	0.0:0.0:1.0:0.0	.	3634	Q685J3	MUC17_HUMAN	I	3634	ENSP00000302716:S3634I	ENSP00000302716:S3634I	S	+	2	0	MUC17	100472318	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.103000	0.03329	0.879000	0.35944	0.186000	0.17326	AGC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	119	1	0	0.00116845	1	0.00124821	6	119				
CYBB	1536	broad.mit.edu	37	X	37642787	37642787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37642787C>T	ENST00000378588.4	+	3	253	c.186C>T	c.(184-186)ttC>ttT	p.F62F	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Silent_p.F30F	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	62	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GCCTGAATTTCAACTGCATGC	0.502																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(184-186)ttC>ttT		cytochrome b-245, beta polypeptide							89.0	72.0	78.0					X																	37642787		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37642787C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.186C>T	X.37:g.37642787C>T						CYBB_ENST00000545017.1_Silent_p.F30F|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR	p.F62F	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			3	253	+			62			Ferric oxidoreductase.		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.186C>T	CCDS14242.1																																																																																				0.502	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			6	48	0	0	0	1	0	6	48				
TBXAS1	6916	broad.mit.edu	37	7	139715553	139715553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139715553G>T	ENST00000336425.5	+	15	1646	c.1257G>T	c.(1255-1257)gaG>gaT	p.E419D	TBXAS1_ENST00000411653.1_Missense_Mutation_p.E419D|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000263552.6_Missense_Mutation_p.E420D|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E465D|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E420D|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E352D|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E419D|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E420D|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E466D			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	419					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AGGACTGCGAGGTGCTGGGGC	0.647																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1258-1260)gaG>gaT		thromboxane A synthase 1 (platelet)							56.0	54.0	54.0					7																	139715553		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139715553G>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1257G>T	7.37:g.139715553G>T	ENSP00000338087:p.Glu419Asp					TBXAS1_ENST00000416849.2_Missense_Mutation_p.E466D|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E419D|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E352D|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E420D|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E419D|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E465D|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E420D|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E419D	p.E420D	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			15	1798	+	Melanoma(164;0.0142)		419					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.1260G>T		.	.	.	.	.	.	.	.	.	.	G	12.78	2.040096	0.35989	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.52	1.49	0.22878	.	0.363174	0.28307	N	0.015827	T	0.60327	0.2260	L	0.48642	1.525	0.80722	D	1	B;B;B;B;B;B;B	0.21309	0.003;0.009;0.012;0.004;0.054;0.007;0.007	B;B;B;B;B;B;B	0.39027	0.009;0.015;0.03;0.007;0.288;0.014;0.014	T	0.52253	-0.8600	10	0.30078	T	0.28	.	6.0475	0.19768	0.1752:0.0:0.673:0.1518	.	400;466;371;352;420;420;419	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	D	352;420;419;466;420;420;419;465;419	ENSP00000388736:E352D;ENSP00000263552:E420D;ENSP00000338087:E419D;ENSP00000389414:E466D;ENSP00000392361:E420D;ENSP00000392702:E420D;ENSP00000402536:E419D;ENSP00000411274:E465D;ENSP00000411326:E419D	ENSP00000263552:E420D	E	+	3	2	TBXAS1	139362022	1.000000	0.71417	0.984000	0.44739	0.553000	0.35397	0.837000	0.27558	0.897000	0.36392	0.462000	0.41574	GAG		0.647	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			4	69	1	0	0.00024832	1	0.0002712	4	69				
COL6A2	1292	broad.mit.edu	37	21	47549205	47549205	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549205C>T	ENST00000300527.4	+	28	2565				COL6A2_ENST00000357838.4_Nonsense_Mutation_p.Q853*|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.Q853*|COL6A2_ENST00000310645.5_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGATCCAACAGTTGCTAAA	0.692																																						ENST00000357838.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2557-2559)Cag>Tag		collagen, type VI, alpha 2							93.0	90.0	91.0					21																	47549205		2203	4300	6503	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549205C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2462-2663C>T	21.37:g.47549205C>T						COL6A2_ENST00000397763.1_Nonsense_Mutation_p.Q853*|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron	p.Q853*	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2639	+	Breast(49;0.245)		0		R -> Q (in BM).	Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Nonsense_Mutation	SNP	ENST00000300527.4	37	c.2557C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	38	7.172106	0.98111	.	.	ENSG00000142173	ENST00000357838;ENST00000397763	.	.	.	4.26	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	9.4173	0.38530	0.1621:0.6814:0.1565:0.0	.	.	.	.	X	853	.	ENSP00000350497:Q853X	Q	+	1	0	COL6A2	46373633	0.996000	0.38824	0.963000	0.40424	0.988000	0.76386	2.244000	0.43124	0.764000	0.33197	0.467000	0.42956	CAG		0.692	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	125	0	0	0	1	0	9	125				
TOP2A	7153	broad.mit.edu	37	17	38562686	38562686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38562686G>A	ENST00000423485.1	-	16	2061	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	635					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACTGGATACGATGTCTTTTC	0.348																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1903-1905)Cgt>Tgt		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						120.0	110.0	113.0					17																	38562686		1844	4091	5935	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38562686G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1903C>T	17.37:g.38562686G>A	ENSP00000411532:p.Arg635Cys						p.R635C	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		16	2061	-		Breast(137;0.00328)	635					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1903C>T	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402643	0.83230	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.27557	1.66	5.38	5.38	0.77491	DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.66670	-0.5865	10	0.62326	D	0.03	.	15.1393	0.72599	0.0:0.0:0.8581:0.1419	.	635	P11388	TOP2A_HUMAN	C	635;715;658;671	ENSP00000411532:R635C	ENSP00000269577:R715C	R	-	1	0	TOP2A	35816212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.528000	0.60580	2.694000	0.91930	0.557000	0.71058	CGT		0.348	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			10	19	0	0	0	1	0	10	19				
IGHG4	3503	broad.mit.edu	37	14	106092228	106092228	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106092228G>A	ENST00000390543.2	-	0	175							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GAGTCCTGAGGACTGTAGGAC	0.627																																						ENST00000390543.2																			0																				51.0	67.0	62.0					14																	106092228		2009	4167	6176			0							g.chr14:106092228G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092228G>A														0	175	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.627	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		10	45	0	0	0	1	0	10	45				
ZNF768	79724	broad.mit.edu	37	16	30536215	30536215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30536215G>T	ENST00000380412.5	-	2	1421	c.1246C>A	c.(1246-1248)Ctt>Att	p.L416I	ZNF768_ENST00000562803.1_Missense_Mutation_p.L385I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	416					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGGGGATAAGGGCCGACCGC	0.667																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1246-1248)Ctt>Att		zinc finger protein 768							30.0	31.0	31.0					16																	30536215		2196	4299	6495	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536215G>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1246C>A	16.37:g.30536215G>T	ENSP00000369777:p.Leu416Ile					ZNF768_ENST00000562803.1_Missense_Mutation_p.L385I	p.L416I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	1421	-			416					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1246C>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557442	0.65425	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.27104	1.69	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36374	N	0.002621	T	0.53769	0.1817	M	0.91090	3.175	0.38807	D	0.955327	P	0.47962	0.903	P	0.54431	0.752	T	0.68300	-0.5445	10	0.87932	D	0	-9.5453	16.5926	0.84770	0.0:0.0:1.0:0.0	.	416	Q9H5H4	ZN768_HUMAN	I	416;329	ENSP00000369777:L416I	ENSP00000369777:L416I	L	-	1	0	ZNF768	30443716	1.000000	0.71417	0.984000	0.44739	0.888000	0.51559	5.109000	0.64615	2.470000	0.83445	0.436000	0.28706	CTT		0.667	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		5	36	1	0	0.184627	1	0.186383	5	36				
INTU	27152	broad.mit.edu	37	4	128632127	128632127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128632127G>A	ENST00000335251.6	+	14	2532	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	810					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ACAGTGCAAGGAATCTTTATT	0.383																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2428-2430)gGa>gAa		inturned planar cell polarity protein							120.0	111.0	114.0					4																	128632127		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128632127G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2429G>A	4.37:g.128632127G>A	ENSP00000334003:p.Gly810Glu						p.G810E	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			14	2532	+			810					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2429G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105932	0.94292	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85452	0.1161	9	0.87932	D	0	-17.8395	19.6745	0.95926	0.0:0.0:1.0:0.0	.	810	Q9ULD6	PDZD6_HUMAN	E	810	.	ENSP00000334003:G810E	G	+	2	0	INTU	128851577	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.252000	0.95491	2.880000	0.98712	0.650000	0.86243	GGA		0.383	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		21	37	0	0	0	1	0	21	37				
PDZD2	23037	broad.mit.edu	37	5	32089262	32089262	+	Missense_Mutation	SNP	C	C	T	rs202059475|rs138400638|rs374313323	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32089262C>T	ENST00000438447.1	+	20	6096	c.5708C>T	c.(5707-5709)gCg>gTg	p.A1903V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1903V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1903					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						GCCCCTGCTGCGAATGCTGTG	0.552																																						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.(5707-5709)gCg>gTg		PDZ domain containing 2		C	VAL/ALA	2,4404		0,2,2201	76.0	81.0	79.0		5708	-0.4	0.0	5	dbSNP_134	79	0,8600		0,0,4300	yes	missense	PDZD2	NM_178140.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1903/2840	32089262	2,13004	2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089262C>T	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.5708C>T	5.37:g.32089262C>T	ENSP00000402033:p.Ala1903Val					PDZD2_ENST00000282493.3_Missense_Mutation_p.A1903V	p.A1903V			O15018	PDZD2_HUMAN			20	6096	+			1903					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5708C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895882	0.33442	4.54E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07444	3.19;3.19	5.04	-0.37	0.12530	.	1.090280	0.06995	N	0.822283	T	0.07683	0.0193	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44620	-0.9316	10	0.33940	T	0.23	.	0.7368	0.00967	0.1692:0.3718:0.165:0.294	.	1903	O15018	PDZD2_HUMAN	V	1903;1704;1903	ENSP00000402033:A1903V;ENSP00000282493:A1903V	ENSP00000282493:A1903V	A	+	2	0	PDZD2	32125019	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.356000	0.07661	0.017000	0.15025	-0.122000	0.15005	GCG		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			20	46	0	0	0	1	0	20	46				
FAM135B	51059	broad.mit.edu	37	8	139155321	139155321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139155321G>A	ENST00000395297.1	-	16	3742	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1191										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAACCGATCCGTCATAGTATC	0.463										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3571-3573)aCg>aTg		family with sequence similarity 135, member B							123.0	118.0	119.0					8																	139155321		1923	4127	6050	SO:0001583	missense	51059							g.chr8:139155321G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3572C>T	8.37:g.139155321G>A	ENSP00000378710:p.Thr1191Met	HNSCC(54;0.14)					p.T1191M	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		16	3742	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1191					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3572C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	31	5.103781	0.94245	.	.	ENSG00000147724	ENST00000395297	T	0.46063	0.88	5.86	5.86	0.93980	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74093	-0.3776	10	0.87932	D	0	-14.5175	19.1684	0.93567	0.0:0.0:1.0:0.0	.	1191;1191	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	M	1191	ENSP00000378710:T1191M	ENSP00000378710:T1191M	T	-	2	0	FAM135B	139224503	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	9.787000	0.99055	2.777000	0.95525	0.655000	0.94253	ACG		0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		19	24	0	0	0	1	0	19	24				
KIF22	3835	broad.mit.edu	37	16	29814854	29814854	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29814854C>A	ENST00000160827.4	+	10	1574	c.1534C>A	c.(1534-1536)Ctc>Atc	p.L512I	KIF22_ENST00000561482.1_Missense_Mutation_p.L444I|KIF22_ENST00000400751.5_Missense_Mutation_p.L444I|AC009133.15_ENST00000566537.1_RNA|KIF22_ENST00000400750.2_Missense_Mutation_p.L17I|KIF22_ENST00000569382.2_Missense_Mutation_p.L444I|MAZ_ENST00000545521.1_5'Flank	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	512				ENHCPTMLR -> RTIVPQCSG (in Ref. 2; BAA33063). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCCACAATGCTCCGGCCCCT	0.532																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(1330-1332)Ctc>Atc		kinesin family member 22							58.0	49.0	52.0					16																	29814854		2197	4300	6497	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29814854C>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1534C>A	16.37:g.29814854C>A	ENSP00000160827:p.Leu512Ile					KIF22_ENST00000160827.4_Missense_Mutation_p.L512I|KIF22_ENST00000569382.2_Missense_Mutation_p.L444I|KIF22_ENST00000400750.2_Missense_Mutation_p.L17I|KIF22_ENST00000400751.5_Missense_Mutation_p.L444I	p.L444I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			10	1967	+			512	APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).				B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.1330C>A	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	6.961	0.547165	0.13312	.	.	ENSG00000079616	ENST00000160827;ENST00000400750;ENST00000400751	T;T	0.73897	-0.71;-0.79	4.11	4.11	0.48088	.	.	.	.	.	T	0.61451	0.2348	N	0.19112	0.55	0.20563	N	0.999884	B;B;B	0.19817	0.016;0.016;0.039	B;B;B	0.18871	0.014;0.014;0.023	T	0.51764	-0.8664	9	0.35671	T	0.21	.	13.9041	0.63823	0.0:1.0:0.0:0.0	.	444;444;512	B7Z265;B7Z9T5;Q14807	.;.;KIF22_HUMAN	I	512;17;444	ENSP00000160827:L512I;ENSP00000383562:L444I	ENSP00000160827:L512I	L	+	1	0	KIF22	29722355	0.005000	0.15991	0.333000	0.25482	0.018000	0.09664	1.498000	0.35660	2.132000	0.65825	0.561000	0.74099	CTC		0.532	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			14	17	1	0	1.05317e-09	1	1.28483e-09	14	17				
ISLR2	57611	broad.mit.edu	37	15	74426914	74426914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74426914C>T	ENST00000361742.3	+	4	2588	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	ISLR2_ENST00000453268.2_Missense_Mutation_p.P607S|ISLR2_ENST00000565540.1_Missense_Mutation_p.P607S|ISLR2_ENST00000435464.1_Missense_Mutation_p.P607S|ISLR2_ENST00000419208.1_Missense_Mutation_p.P607S|ISLR2_ENST00000445793.1_Missense_Mutation_p.P607S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.P607S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	607					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGCCACAGTGCCCCTTCTGGG	0.627											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1819-1821)Ccc>Tcc		immunoglobulin superfamily containing leucine-rich repeat 2							38.0	34.0	36.0					15																	74426914		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426914C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1819C>T	15.37:g.74426914C>T	ENSP00000355402:p.Pro607Ser		OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ISLR2_ENST00000453268.2_Missense_Mutation_p.P607S|ISLR2_ENST00000435464.1_Missense_Mutation_p.P607S|ISLR2_ENST00000419208.1_Missense_Mutation_p.P607S|ISLR2_ENST00000565159.1_Missense_Mutation_p.P607S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.P607S|ISLR2_ENST00000565540.1_Missense_Mutation_p.P607S	p.P607S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	2588	+			607					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1819C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089120	0.76756	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85251	0.1044	10	0.87932	D	0	.	16.2808	0.82678	0.0:1.0:0.0:0.0	.	607	Q6UXK2	ISLR2_HUMAN	S	607;607;607;607;196;607	ENSP00000403244:P607S;ENSP00000355402:P607S;ENSP00000411443:P607S;ENSP00000411834:P607S;ENSP00000408872:P607S	ENSP00000355402:P607S	P	+	1	0	ISLR2	72213967	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	5.789000	0.69029	2.129000	0.65627	0.313000	0.20887	CCC		0.627	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		9	27	0	0	0	1	0	9	27				
RIMS1	22999	broad.mit.edu	37	6	72945373	72945373	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:72945373T>G	ENST00000521978.1	+	8	1799	c.1799T>G	c.(1798-1800)gTt>gGt	p.V600G	RIMS1_ENST00000264839.7_Missense_Mutation_p.V600G|RIMS1_ENST00000522291.1_Missense_Mutation_p.V600G|RIMS1_ENST00000401910.3_Missense_Mutation_p.V74G|RIMS1_ENST00000520567.1_Missense_Mutation_p.V600G|RIMS1_ENST00000518273.1_Missense_Mutation_p.V600G|RIMS1_ENST00000491071.2_Missense_Mutation_p.V600G|RIMS1_ENST00000348717.5_Missense_Mutation_p.V600G|RIMS1_ENST00000523963.1_Missense_Mutation_p.V74G|RIMS1_ENST00000517827.1_Missense_Mutation_p.V59G|RIMS1_ENST00000517960.1_Missense_Mutation_p.V600G|RIMS1_ENST00000425662.2_5'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	600					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTGGACGTGTTATTCTTAAC	0.368																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(1798-1800)gTt>gGt		regulating synaptic membrane exocytosis 1							73.0	73.0	73.0					6																	72945373		1887	4118	6005	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72945373T>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1799T>G	6.37:g.72945373T>G	ENSP00000428417:p.Val600Gly					RIMS1_ENST00000517827.1_Missense_Mutation_p.V59G|RIMS1_ENST00000491071.2_Missense_Mutation_p.V600G|RIMS1_ENST00000520567.1_Missense_Mutation_p.V600G|RIMS1_ENST00000348717.5_Missense_Mutation_p.V600G|RIMS1_ENST00000522291.1_Missense_Mutation_p.V600G|RIMS1_ENST00000521978.1_Missense_Mutation_p.V600G|RIMS1_ENST00000523963.1_Missense_Mutation_p.V74G|RIMS1_ENST00000401910.3_Missense_Mutation_p.V74G|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.V600G|RIMS1_ENST00000517960.1_Missense_Mutation_p.V600G	p.V600G			Q86UR5	RIMS1_HUMAN			8	1799	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	600					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.1799T>G	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.9|26.9	4.785765|4.785765	0.90282|0.90282	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000517827	.|T;T;T;T;T;T;T;T;T;T;T	.|0.53857	.|0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.92|5.92	5.92|5.92	0.95590|0.95590	.|PDZ/DHR/GLGF (1);	.|0.000000	.|0.56097	.|D	.|0.000021	T|T	0.62865|0.62865	0.2463|0.2463	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|P;B;D;D;D;D;D	.|0.89917	.|0.93;0.31;0.997;0.999;0.987;1.0;0.999	.|P;B;D;D;D;D;D	.|0.91635	.|0.692;0.3;0.998;0.967;0.922;0.999;0.982	T|T	0.67213|0.67213	-0.5727|-0.5727	5|10	.|0.87932	.|D	.|0	-16.1621|-16.1621	16.3593|16.3593	0.83251|0.83251	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|59;74;600;59;74;600;600	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5	.|.;.;.;.;.;.;RIMS1_HUMAN	W|G	173|600;600;600;600;600;600;600;600;600;600;600;600;74;74;59	.|ENSP00000430101:V600G;ENSP00000275037:V600G;ENSP00000264839:V600G;ENSP00000429959:V600G;ENSP00000430408:V600G;ENSP00000430502:V600G;ENSP00000430932:V600G;ENSP00000428417:V600G;ENSP00000385649:V74G;ENSP00000428328:V74G;ENSP00000428367:V59G	.|ENSP00000264839:V600G	C|V	+|+	3|2	2|0	RIMS1|RIMS1	73002094|73002094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.040000|8.040000	0.89188|0.89188	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	TGT|GTT		0.368	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			7	9	0	0	0	1	0	7	9				
TMEM26	219623	broad.mit.edu	37	10	63170226	63170226	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170226C>A	ENST00000399298.3	-	6	1329	c.961G>T	c.(961-963)Ggc>Tgc	p.G321C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	321						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCTTTCAGGCCTTCTGACTGA	0.567																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(961-963)Ggc>Tgc		transmembrane protein 26							93.0	97.0	96.0					10																	63170226		2030	4190	6220	SO:0001583	missense	219623					integral to membrane		g.chr10:63170226C>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.961G>T	10.37:g.63170226C>A	ENSP00000382237:p.Gly321Cys					TMEM26_ENST00000507507.1_5'UTR	p.G321C	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1329	-	Prostate(12;0.0112)		321					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.961G>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821099	0.32237	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.75	-0.199	0.13220	.	1.127110	0.06476	N	0.731955	T	0.20455	0.0492	N	0.19112	0.55	0.09310	N	0.999999	D	0.57257	0.979	B	0.43360	0.417	T	0.21109	-1.0255	9	0.56958	D	0.05	-0.4007	5.8342	0.18597	0.0:0.3291:0.1499:0.521	.	321	Q6ZUK4	TMM26_HUMAN	C	321	.	ENSP00000382237:G321C	G	-	1	0	TMEM26	62840232	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.200000	0.17257	0.039000	0.15632	0.655000	0.94253	GGC		0.567	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		19	27	1	0	0.000229342	1	0.000251627	19	27				
BHLHE40	8553	broad.mit.edu	37	3	5024755	5024755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5024755G>A	ENST00000256495.3	+	5	1220	c.617G>A	c.(616-618)aGc>aAc	p.S206N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	206					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAAAAACCCAGCTCTCCGGCC	0.607																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(616-618)aGc>aAc		basic helix-loop-helix family, member e40							44.0	48.0	47.0					3																	5024755		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5024755G>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.617G>A	3.37:g.5024755G>A	ENSP00000256495:p.Ser206Asn						p.S206N	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1220	+			206					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.617G>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069663	0.20147	.	.	ENSG00000134107	ENST00000256495	T	0.78924	-1.22	5.67	2.84	0.33178	.	0.969086	0.08610	N	0.920222	T	0.67382	0.2887	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.51132	-0.8744	10	0.27082	T	0.32	.	6.3762	0.21509	0.069:0.3609:0.4462:0.1239	.	206	O14503	BHE40_HUMAN	N	206	ENSP00000256495:S206N	ENSP00000256495:S206N	S	+	2	0	BHLHE40	4999755	0.014000	0.17966	0.754000	0.31244	0.269000	0.26545	1.361000	0.34136	0.307000	0.22880	-0.136000	0.14681	AGC		0.607	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		20	38	0	0	0	1	0	20	38				
GPHN	10243	broad.mit.edu	37	14	67382747	67382747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67382747G>A	ENST00000315266.5	+	6	1538	c.417G>A	c.(415-417)acG>acA	p.T139T	GPHN_ENST00000478722.1_Silent_p.T139T|GPHN_ENST00000459628.1_Silent_p.T121T|GPHN_ENST00000305960.9_Silent_p.T108T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.T152T	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	139	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GAGGGAAAACGCTCATAATTA	0.378			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(415-417)acG>acA		gephyrin							132.0	126.0	128.0					14																	67382747		2203	4300	6503	SO:0001819	synonymous_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67382747G>A	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.417G>A	14.37:g.67382747G>A						GPHN_ENST00000543237.1_Silent_p.T152T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.T108T|GPHN_ENST00000459628.1_Silent_p.T121T|GPHN_ENST00000315266.5_Silent_p.T139T	p.T139T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	6	1538	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	139			MPT Mo-transferase.		Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	c.417G>A	CCDS32103.1																																																																																				0.378	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		13	36	0	0	0	1	0	13	36				
KIAA0754	643314	broad.mit.edu	37	1	39877589	39877589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39877589C>A	ENST00000530275.1	+	1	1439	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	415										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCCTAATGCTGTGGAACTT	0.408																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1243-1245)gCt>gAt		KIAA0754							96.0	92.0	94.0					1																	39877589		1904	4128	6032	SO:0001583	missense	643314							g.chr1:39877589C>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1244C>A	1.37:g.39877589C>A	ENSP00000431179:p.Ala415Asp					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron	p.A415D	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1439	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	415					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1244C>A		.	.	.	.	.	.	.	.	.	.	C	15.95	2.984441	0.53934	.	.	ENSG00000255103	ENST00000530275	D	0.86097	-2.07	5.05	4.13	0.48395	.	.	.	.	.	T	0.81814	0.4902	N	0.24115	0.695	0.09310	N	1	D	0.53462	0.96	P	0.51229	0.663	T	0.73557	-0.3945	9	0.87932	D	0	.	11.1782	0.48612	0.0:0.9151:0.0:0.0849	.	415	O94854	K0754_HUMAN	D	415	ENSP00000431179:A415D	ENSP00000431179:A415D	A	+	2	0	RP4-562N20.1	39650176	0.084000	0.21492	0.638000	0.29380	0.976000	0.68499	1.864000	0.39469	2.351000	0.79841	0.655000	0.94253	GCT		0.408	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		4	63	1	0	1	1	1	4	63				
ZC3H7B	23264	broad.mit.edu	37	22	41745272	41745272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41745272G>A	ENST00000352645.4	+	16	2172	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E639K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	655					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCTTCATCGAGCTCAAGGT	0.657																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1915-1917)Gag>Aag		zinc finger CCCH-type containing 7B							85.0	69.0	74.0					22																	41745272		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41745272G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1915G>A	22.37:g.41745272G>A	ENSP00000345793:p.Glu639Lys					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E639K	p.E639K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			16	2172	+			655					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1915G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665288	0.96745	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.58940	0.3;0.3	5.2	5.2	0.72013	.	0.096709	0.64402	D	0.000001	T	0.76564	0.4005	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.80086	-0.1529	10	0.87932	D	0	-37.7758	18.7452	0.91789	0.0:0.0:1.0:0.0	.	639	Q9UGR2-2	.	K	639	ENSP00000345793:E639K;ENSP00000263243:E639K	ENSP00000263243:E639K	E	+	1	0	ZC3H7B	40075218	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	9.790000	0.99075	2.435000	0.82474	0.514000	0.50259	GAG		0.657	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		30	46	0	0	0	1	0	30	46				
ZNF646	9726	broad.mit.edu	37	16	31090101	31090101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31090101C>T	ENST00000394979.2	+	1	2879	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V	ZNF646_ENST00000300850.5_Missense_Mutation_p.A819V			O15015	ZN646_HUMAN	zinc finger protein 646	819					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAGGCTGGGGCCGCTCACACA	0.617																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2455-2457)gCc>gTc		zinc finger protein 646							72.0	73.0	73.0					16																	31090101		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090101C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2456C>T	16.37:g.31090101C>T	ENSP00000378429:p.Ala819Val					ZNF646_ENST00000300850.5_Missense_Mutation_p.A819V	p.A819V			O15015	ZN646_HUMAN			1	2879	+			819					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.2456C>T		.	.	.	.	.	.	.	.	.	.	C	10.12	1.262404	0.23051	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09073	3.02;3.02	5.25	-6.6	0.01824	.	.	.	.	.	T	0.02807	0.0084	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43925	-0.9361	9	0.27785	T	0.31	0.1447	3.6367	0.08151	0.1848:0.4582:0.2355:0.1215	.	819	O15015-2	.	V	819	ENSP00000300850:A819V;ENSP00000378429:A819V	ENSP00000300850:A819V	A	+	2	0	ZNF646	30997602	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.750000	0.04808	-1.020000	0.03354	-1.114000	0.02060	GCC		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		19	46	0	0	0	1	0	19	46				
IGFN1	91156	broad.mit.edu	37	1	201196086	201196086	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201196086G>A	ENST00000335211.4	+	23	10993	c.10863G>A	c.(10861-10863)cgG>cgA	p.R3621R	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1164						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGGCCTGCGGTCCCACCTGC	0.677																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10861-10863)cgG>cgA		immunoglobulin-like and fibronectin type III domain containing 1							50.0	58.0	55.0					1																	201196086		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201196086G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10863G>A	1.37:g.201196086G>A						IGFN1_ENST00000295591.8_3'UTR	p.R3621R	NM_001164586.1	NP_001158058.1					23	10993	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.10863G>A	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	2.017	-0.425607	0.04701	.	.	ENSG00000163395	ENST00000412892	.	.	.	5.21	2.2	0.27929	.	.	.	.	.	T	0.68577	0.3016	.	.	.	0.43330	D	0.995361	.	.	.	.	.	.	T	0.65356	-0.6188	4	.	.	.	.	14.32	0.66479	0.0:0.4695:0.5305:0.0	.	.	.	.	I	1039	.	.	V	+	1	0	IGFN1	199462709	0.870000	0.30015	0.216000	0.23742	0.268000	0.26511	1.167000	0.31847	0.175000	0.19841	-0.304000	0.09214	GTC		0.677	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		56	55	0	0	0	1	0	56	55				
CLK4	57396	broad.mit.edu	37	5	178050414	178050414	+	Missense_Mutation	SNP	G	G	A	rs140778498	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178050414G>A	ENST00000316308.4	-	2	172	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	CLK4_ENST00000520957.1_Missense_Mutation_p.R2W	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	2					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R2W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTGGAATGCCGCATCTGTTGA	0.383																																						ENST00000316308.4																			1	Substitution - Missense(1)	p.R2W(1)	ovary(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(4-6)Cgg>Tgg		CDC-like kinase 4							116.0	99.0	105.0					5																	178050414		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178050414G>A	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.4C>T	5.37:g.178050414G>A	ENSP00000316948:p.Arg2Trp					CLK4_ENST00000520957.1_Missense_Mutation_p.R2W	p.R2W	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	2	172	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2						Missense_Mutation	SNP	ENST00000316308.4	37	c.4C>T	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411057	0.83340	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	T	0.08370	3.1	5.56	4.69	0.59074	.	0.058754	0.64402	D	0.000002	T	0.29491	0.0735	M	0.80982	2.52	0.43814	D	0.996376	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.976;0.976;0.999;0.988;0.993	T	0.03344	-1.1046	10	0.72032	D	0.01	.	11.9505	0.52952	0.0:0.0:0.8266:0.1734	.	2;2;2;2;2	B7Z990;B7ZL31;E7EWJ6;Q4G0Z5;Q9HAZ1	.;.;.;.;CLK4_HUMAN	W	2	ENSP00000316948:R2W	ENSP00000316948:R2W	R	-	1	2	CLK4	177983020	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.216000	0.51176	1.346000	0.45694	0.491000	0.48974	CGG		0.383	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			4	40	0	0	0	1	0	4	40				
MICALCL	84953	broad.mit.edu	37	11	12316328	12316328	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12316328C>A	ENST00000256186.2	+	3	1641	c.1350C>A	c.(1348-1350)acC>acA	p.T450T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	450					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCAAAAGCACCTCCCTGCGCC	0.597																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1348-1350)acC>acA		MICAL C-terminal like							27.0	30.0	29.0					11																	12316328		1977	4128	6105	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316328C>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1350C>A	11.37:g.12316328C>A							p.T450T	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1641	+			450					Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1350C>A	CCDS41620.1																																																																																				0.597	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		12	42	1	0	3.07112e-06	1	3.52574e-06	12	42				
SUCO	51430	broad.mit.edu	37	1	172547524	172547524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172547524A>G	ENST00000263688.3	+	14	1646	c.1427A>G	c.(1426-1428)gAc>gGc	p.D476G	SUCO_ENST00000367723.4_Missense_Mutation_p.D627G|SUCO_ENST00000610051.1_Missense_Mutation_p.D439G|SUCO_ENST00000608151.1_Missense_Mutation_p.D628G	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	476					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTTGATGAGGACTATGGTAAG	0.343																																						ENST00000367723.3																			0											c.(1882-1884)gAc>gGc		SUN domain containing ossification factor							118.0	109.0	112.0					1																	172547524		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172547524A>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1427A>G	1.37:g.172547524A>G	ENSP00000263688:p.Asp476Gly					SUCO_ENST00000263688.3_Missense_Mutation_p.D476G	p.D628G	NM_016227.2	NP_057311.2					13	2007	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.1883A>G	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636485	0.87760	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.22	5.22	0.72569	.	0.045924	0.85682	D	0.000000	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	P;B;P;P	0.52316	0.952;0.325;0.917;0.569	P;B;P;B	0.51742	0.516;0.24;0.678;0.388	T	0.48305	-0.9047	9	0.72032	D	0.01	-7.5289	13.923	0.63945	1.0:0.0:0.0:0.0	.	439;476;628;476	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	G	628;476	.	ENSP00000263688:D476G	D	+	2	0	C1orf9	170814147	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.982000	0.93471	1.977000	0.57605	0.460000	0.39030	GAC		0.343	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		28	35	0	0	0	1	0	28	35				
RYR1	6261	broad.mit.edu	37	19	38976717	38976717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38976717C>T	ENST00000359596.3	+	34	5422	c.5422C>T	c.(5422-5424)Cgg>Tgg	p.R1808W	RYR1_ENST00000355481.4_Missense_Mutation_p.R1808W|RYR1_ENST00000360985.3_Missense_Mutation_p.R1808W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1808	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGAGGCCCTGCGGGACAAGGC	0.711																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5422-5424)Cgg>Tgg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						32.0	35.0	34.0					19																	38976717		2201	4295	6496	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976717C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5422C>T	19.37:g.38976717C>T	ENSP00000352608:p.Arg1808Trp					RYR1_ENST00000359596.3_Missense_Mutation_p.R1808W|RYR1_ENST00000360985.3_Missense_Mutation_p.R1808W	p.R1808W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5553	+	all_cancers(60;7.91e-06)		1808			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5422C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730401	0.48939	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73897	-0.79;-0.79;-0.79	3.7	2.65	0.31530	.	0.090982	0.41823	U	0.000801	T	0.76835	0.4043	L	0.36672	1.1	0.35003	D	0.756112	D;D	0.89917	1.0;0.999	D;D	0.67382	0.951;0.937	T	0.81711	-0.0808	10	0.87932	D	0	.	9.9916	0.41874	0.5605:0.4395:0.0:0.0	.	1808;1808	P21817-2;P21817	.;RYR1_HUMAN	W	1808	ENSP00000352608:R1808W;ENSP00000347667:R1808W;ENSP00000354254:R1808W	ENSP00000347667:R1808W	R	+	1	2	RYR1	43668557	0.198000	0.23374	0.999000	0.59377	0.890000	0.51754	0.870000	0.28010	0.745000	0.32763	-0.238000	0.12139	CGG		0.711	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	26	0	0	0	1	0	22	26				
RNF113B	140432	broad.mit.edu	37	13	98829411	98829411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98829411C>T	ENST00000267291.6	-	1	108	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	27							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGCCCCTTTCCGTCCAGGCTT	0.647																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(79-81)cGg>cAg		ring finger protein 113B							43.0	41.0	41.0					13																	98829411		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829411C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.80G>A	13.37:g.98829411C>T	ENSP00000267291:p.Arg27Gln					FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	p.R27Q	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	108	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		27					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.80G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810165	0.70797	.	.	ENSG00000139797	ENST00000267291	T	0.31510	1.49	1.17	0.258	0.15578	.	0.173681	0.36665	U	0.002469	T	0.27559	0.0677	M	0.74881	2.28	0.23056	N	0.998363	D	0.69078	0.997	P	0.45946	0.498	T	0.24835	-1.0149	10	0.15066	T	0.55	.	3.213	0.06689	0.0:0.6923:0.0:0.3077	.	27	Q8IZP6	R113B_HUMAN	Q	27	ENSP00000267291:R27Q	ENSP00000267291:R27Q	R	-	2	0	RNF113B	97627412	0.025000	0.19082	0.897000	0.35233	0.835000	0.47333	0.856000	0.27818	0.059000	0.16252	0.491000	0.48974	CGG		0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		7	16	0	0	0	1	0	7	16				
PDE1C	5137	broad.mit.edu	37	7	31877483	31877483	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31877483C>T	ENST00000396191.1	-	10	1538		c.e10+1		PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396184.3_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AGCACACTTACGCTTCTGGCT	0.423																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.e11+1		phosphodiesterase 1C, calmodulin-dependent 70kDa							160.0	153.0	155.0					7																	31877483		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31877483C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1082+1G>A	7.37:g.31877483C>T						PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site		NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		11	1287	-								B3KPC6|E9PE92|Q14124|Q8NB10	Splice_Site	SNP	ENST00000396191.1	37		CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150420	0.94645	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1C	31844008	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.734000	0.84928	2.603000	0.88011	0.655000	0.94253	.		0.423	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Intron	54	147	0	0	0	1	0	54	147				
ATAD5	79915	broad.mit.edu	37	17	29185179	29185179	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185179T>C	ENST00000321990.4	+	9	3172	c.2794T>C	c.(2794-2796)Ttc>Ctc	p.F932L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	932					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTATTGCAGTTCATGAGGAC	0.313																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.e9-1		ATPase family, AAA domain containing 5							72.0	71.0	71.0					17																	29185179		2203	4299	6502	SO:0001630	splice_region_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29185179T>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2794-1T>C	17.37:g.29185179T>C						CTD-2349P21.11_ENST00000580873.1_RNA	p.F932_splice	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			9	3172	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	932					Q05DH0|Q69YR6|Q9H9I1	Splice_Site	SNP	ENST00000321990.4	37	c.2793_splice	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.614255	0.28712	.	.	ENSG00000176208	ENST00000321990	D	0.87029	-2.2	5.97	-1.87	0.07737	.	1.276770	0.04679	N	0.412118	T	0.79387	0.4437	L	0.38175	1.15	0.22851	N	0.998651	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.58907	-0.7553	9	.	.	.	.	6.385	0.21556	0.1075:0.3186:0.0:0.5739	.	932;932	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	L	932	ENSP00000313171:F932L	.	F	+	1	0	ATAD5	26209305	0.117000	0.22190	0.042000	0.18584	0.667000	0.39255	-0.407000	0.07178	-0.692000	0.05128	0.482000	0.46254	TTC		0.313	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	Missense_Mutation	24	37	0	0	0	1	0	24	37				
CHPF	79586	broad.mit.edu	37	2	220404123	220404123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220404123C>T	ENST00000243776.6	-	4	2558	c.2310G>A	c.(2308-2310)gaG>gaA	p.E770E	CHPF_ENST00000535926.1_Silent_p.E608E	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	770					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGTTGCCCTGCTCCTGTTCAA	0.667																																						ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(2308-2310)gaG>gaA		chondroitin polymerizing factor							41.0	37.0	38.0					2																	220404123		2203	4299	6502	SO:0001819	synonymous_variant	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404123C>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.2310G>A	2.37:g.220404123C>T						CHPF_ENST00000535926.1_Silent_p.E608E	p.E770E	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2558	-		Renal(207;0.0183)	770					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	c.2310G>A	CCDS2443.1																																																																																				0.667	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		10	12	0	0	0	1	0	10	12				
ARHGEF10L	55160	broad.mit.edu	37	1	18021739	18021739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18021739C>T	ENST00000361221.3	+	28	3430	c.3271C>T	c.(3271-3273)Ccc>Tcc	p.P1091S	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P794S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P864S	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1091						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGTCCTGCTGCCCGTGCCTCG	0.627																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3271-3273)Ccc>Tcc		Rho guanine nucleotide exchange factor (GEF) 10-like							74.0	65.0	68.0					1																	18021739		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18021739C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3271C>T	1.37:g.18021739C>T	ENSP00000355060:p.Pro1091Ser					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P864S|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P794S	p.P1091S	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	28	3430	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1091					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3271C>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585191	0.66105	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.136296	0.49916	D	0.000123	T	0.55561	0.1928	M	0.84773	2.715	0.80722	D	1	P;P;P;P;P;P;P	0.52061	0.894;0.9;0.95;0.826;0.891;0.853;0.857	P;B;P;P;P;P;B	0.56434	0.633;0.435;0.779;0.505;0.798;0.628;0.424	T	0.63088	-0.6715	10	0.66056	D	0.02	-12.2443	17.0249	0.86443	0.0:1.0:0.0:0.0	.	864;864;794;852;1047;1052;1091	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	S	1091;1052;1052;864;864;794	ENSP00000355060:P1091S;ENSP00000399401:P1052S;ENSP00000364564:P1052S;ENSP00000364557:P864S;ENSP00000167825:P794S	ENSP00000167825:P794S	P	+	1	0	ARHGEF10L	17894326	1.000000	0.71417	0.999000	0.59377	0.814000	0.46013	3.563000	0.53784	2.574000	0.86865	0.655000	0.94253	CCC		0.627	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		17	31	0	0	0	1	0	17	31				
MAP1A	4130	broad.mit.edu	37	15	43818558	43818558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43818558G>T	ENST00000300231.5	+	4	5337	c.4887G>T	c.(4885-4887)caG>caT	p.Q1629H	MAP1A_ENST00000382031.1_Missense_Mutation_p.Q1867H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1629H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1629					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTAGTGCAGGAGGGCAGGG	0.547																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(5599-5601)caG>caT		microtubule-associated protein 1A	Estramustine(DB01196)						50.0	60.0	57.0					15																	43818558		1952	4134	6086	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818558G>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4887G>T	15.37:g.43818558G>T	ENSP00000300231:p.Gln1629His					MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1629H|MAP1A_ENST00000300231.5_Missense_Mutation_p.Q1629H	p.Q1867H			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	5632	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1629					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5601G>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884713	0.17540	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01430	4.9;4.9;4.9	4.45	0.236	0.15471	.	.	.	.	.	T	0.01189	0.0039	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48779	-0.9005	9	0.56958	D	0.05	0.0177	1.6541	0.02778	0.1677:0.1375:0.4134:0.2813	.	1629	P78559	MAP1A_HUMAN	H	1867;1629;1629	ENSP00000371462:Q1867H;ENSP00000382380:Q1629H;ENSP00000300231:Q1629H	ENSP00000300231:Q1629H	Q	+	3	2	MAP1A	41605850	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.362000	0.20284	-0.119000	0.11830	0.563000	0.77884	CAG		0.547	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	67	1	0	5.9392e-07	1	6.91975e-07	5	67				
USP8	9101	broad.mit.edu	37	15	50769490	50769490	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50769490T>C	ENST00000396444.3	+	10	1350	c.1012T>C	c.(1012-1014)Tca>Cca	p.S338P	USP8_ENST00000433963.1_Missense_Mutation_p.S338P|USP8_ENST00000425032.3_Missense_Mutation_p.S261P|USP8_ENST00000307179.4_Missense_Mutation_p.S338P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	338					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTTATCCCTCATTGGAAGA	0.348																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1012-1014)Tca>Cca		ubiquitin specific peptidase 8							34.0	35.0	35.0					15																	50769490		2194	4293	6487	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769490T>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1012T>C	15.37:g.50769490T>C	ENSP00000379721:p.Ser338Pro					USP8_ENST00000307179.4_Missense_Mutation_p.S338P|USP8_ENST00000425032.3_Missense_Mutation_p.S261P|USP8_ENST00000396444.3_Missense_Mutation_p.S338P	p.S338P	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	11	1512	+			338					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1012T>C	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609352	0.66558	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.64	4.64	0.57946	.	0.147481	0.49305	D	0.000143	T	0.43166	0.1235	M	0.63843	1.955	0.58432	D	0.99999	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.83275	0.916;0.916;0.996	T	0.32268	-0.9913	10	0.49607	T	0.09	-11.4239	14.3445	0.66651	0.0:0.0:0.0:1.0	.	261;338;338	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	P	338;338;338;261	ENSP00000379721:S338P;ENSP00000405537:S338P;ENSP00000302239:S338P;ENSP00000412682:S261P	ENSP00000302239:S338P	S	+	1	0	USP8	48556782	1.000000	0.71417	0.992000	0.48379	0.694000	0.40290	4.407000	0.59754	1.844000	0.53588	0.377000	0.23210	TCA		0.348	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		10	27	0	0	0	1	0	10	27				
NUP214	8021	broad.mit.edu	37	9	134021675	134021675	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134021675C>A	ENST00000359428.5	+	13	2073	c.1929C>A	c.(1927-1929)gtC>gtA	p.V643V	NUP214_ENST00000451030.1_Silent_p.V643V|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Silent_p.V632V|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	643	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTCCTCAGTCTTGCCCTCAC	0.502			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1927-1929)gtC>gtA		nucleoporin 214kDa							311.0	263.0	280.0					9																	134021675		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134021675C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1929C>A	9.37:g.134021675C>A						RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Silent_p.V643V|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Silent_p.V632V|RP11-544A12.4_ENST00000590461.1_RNA	p.V643V			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	2073	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	643			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.1929C>A	CCDS6940.1																																																																																				0.502	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		15	247	1	0	1.15088e-07	1	1.35723e-07	15	247				
TMPRSS6	164656	broad.mit.edu	37	22	37462235	37462235	+	Missense_Mutation	SNP	C	C	T	rs377180954|rs34971651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37462235C>T	ENST00000346753.3	-	18	2437	c.2321G>A	c.(2320-2322)cGc>cAc	p.R774H	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R787H|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R765H|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R787H	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	774	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> C (in IRIDA). {ECO:0000269|PubMed:18408718}.		angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGGAACCAGCGGCCACTGAG	0.627																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(2359-2361)cGc>cAc		transmembrane protease, serine 6		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	28.0	29.0	29.0		2321	4.5	1.0	22		29	0,8598		0,0,4299	no	missense	TMPRSS6	NM_153609.2	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	774/812	37462235	1,13003	2203	4299	6502	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462235C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2321G>A	22.37:g.37462235C>T	ENSP00000334962:p.Arg774His					TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R787H|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R765H|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R774H	p.R787H			Q8IU80	TMPS6_HUMAN			19	2500	-			774			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.2360G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312551	0.81358	2.27E-4	0.0	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.071701	0.52532	D	0.000065	D	0.94870	0.8342	L	0.49455	1.56	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	D	0.95014	0.8154	10	0.87932	D	0	.	12.0342	0.53415	0.0:0.915:0.0:0.085	.	787;774	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	H	787;774;765;787	ENSP00000371211:R787H;ENSP00000334962:R774H;ENSP00000385453:R765H;ENSP00000384964:R787H	ENSP00000334962:R774H	R	-	2	0	TMPRSS6	35792181	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.761000	0.62243	2.178000	0.69098	0.467000	0.42956	CGC		0.627	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		6	14	0	0	0	1	0	6	14				
IL26	55801	broad.mit.edu	37	12	68619407	68619407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619407C>T	ENST00000229134.4	-	1	194	c.130G>A	c.(130-132)Gct>Act	p.A44T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	44					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATAGAGAGCGTCAACAGCT	0.433																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(130-132)Gct>Act		interleukin 26							277.0	244.0	255.0					12																	68619407		2203	4300	6503	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619407C>T	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.130G>A	12.37:g.68619407C>T	ENSP00000229134:p.Ala44Thr					IFNG-AS1_ENST00000536914.1_RNA	p.A44T	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	194	-			44						Missense_Mutation	SNP	ENST00000229134.4	37	c.130G>A	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.880566	0.00532	.	.	ENSG00000111536	ENST00000229134	T	0.76709	-1.04	4.94	-2.47	0.06442	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.692050	0.03851	N	0.272233	T	0.41766	0.1173	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34129	-0.9841	9	.	.	.	.	4.2336	0.10615	0.1754:0.3259:0.0:0.4987	.	44	Q9NPH9	IL26_HUMAN	T	44	ENSP00000229134:A44T	.	A	-	1	0	IL26	66905674	0.039000	0.19947	0.000000	0.03702	0.153000	0.21895	0.570000	0.23653	-0.666000	0.05310	-0.379000	0.06801	GCT		0.433	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		74	125	0	0	0	1	0	74	125				
ILF3	3609	broad.mit.edu	37	19	10782100	10782100	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10782100G>T	ENST00000590261.1	+	3	300	c.300G>T	c.(298-300)aaG>aaT	p.K100N	ILF3_ENST00000592763.1_Missense_Mutation_p.K100N|ILF3_ENST00000420083.1_Missense_Mutation_p.K100N|ILF3_ENST00000407004.3_Missense_Mutation_p.K100N|ILF3_ENST00000589998.1_Missense_Mutation_p.K100N|ILF3_ENST00000318511.3_Missense_Mutation_p.K100N|ILF3_ENST00000588657.1_Missense_Mutation_p.K100N|ILF3_ENST00000250241.8_Missense_Mutation_p.K100N|ILF3_ENST00000449870.1_Missense_Mutation_p.K100N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	100	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGGTGGCAAAGGGCCTCCTAC	0.617																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(298-300)aaG>aaT		interleukin enhancer binding factor 3, 90kDa							114.0	110.0	111.0					19																	10782100		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10782100G>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.300G>T	19.37:g.10782100G>T	ENSP00000468156:p.Lys100Asn					ILF3_ENST00000589998.1_Missense_Mutation_p.K100N|ILF3_ENST00000588657.1_Missense_Mutation_p.K100N|ILF3_ENST00000250241.8_Missense_Mutation_p.K100N|ILF3_ENST00000318511.3_Missense_Mutation_p.K100N|ILF3_ENST00000592763.1_Missense_Mutation_p.K100N|ILF3_ENST00000420083.1_Missense_Mutation_p.K100N|ILF3_ENST00000590261.1_Missense_Mutation_p.K100N|ILF3_ENST00000407004.3_Missense_Mutation_p.K100N	p.K100N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		4	617	+			100			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.300G>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496613	0.64186	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.86	3.83	0.44106	DZF (2);	0.052379	0.64402	D	0.000001	T	0.68118	0.2966	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.998;0.999;0.997;0.996	T	0.71751	-0.4498	10	0.87932	D	0	.	8.8838	0.35392	0.1736:0.0:0.8264:0.0	.	100;100;100;100;100	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	N	100	ENSP00000404121:K100N;ENSP00000315205:K100N;ENSP00000405436:K100N;ENSP00000384660:K100N;ENSP00000250241:K100N	ENSP00000250241:K100N	K	+	3	2	ILF3	10643100	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.750000	0.38329	1.414000	0.47017	0.655000	0.94253	AAG		0.617	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			10	115	1	0	0.0692343	1	0.0706532	10	115				
ZBTB45	84878	broad.mit.edu	37	19	59028463	59028463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028463G>T	ENST00000594051.1	-	2	1058	c.578C>A	c.(577-579)cCt>cAt	p.P193H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P193H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P193H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	193	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTCAGCATCAGGCCCCTCAGC	0.682											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(577-579)cCt>cAt		zinc finger and BTB domain containing 45							71.0	79.0	76.0					19																	59028463		2203	4300	6503	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028463G>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.578C>A	19.37:g.59028463G>T	ENSP00000469089:p.Pro193His		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Missense_Mutation_p.P193H|ZBTB45_ENST00000600990.1_Missense_Mutation_p.P193H	p.P193H			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1058	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	193			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.578C>A	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	g	13.65	2.299151	0.40694	.	.	ENSG00000119574	ENST00000354590	T	0.10005	2.92	3.44	3.44	0.39384	.	1.803760	0.03885	U	0.277643	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.34038	0.174	T	0.31081	-0.9956	10	0.44086	T	0.13	.	13.1721	0.59604	0.0:0.0:1.0:0.0	.	193	Q96K62	ZBT45_HUMAN	H	193	ENSP00000346603:P193H	ENSP00000346603:P193H	P	-	2	0	ZBTB45	63720275	0.060000	0.20803	0.028000	0.17463	0.211000	0.24417	1.478000	0.35442	2.237000	0.73441	0.467000	0.42956	CCT		0.682	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		50	93	1	0	1.19451e-25	1	1.58886e-25	50	93				
TAF1A	9015	broad.mit.edu	37	1	222753158	222753158	+	Missense_Mutation	SNP	C	C	A	rs371630309		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222753158C>A	ENST00000352967.4	-	4	536	c.348G>T	c.(346-348)gaG>gaT	p.E116D	TAF1A_ENST00000350027.4_Missense_Mutation_p.E116D|TAF1A_ENST00000366890.1_Missense_Mutation_p.E2D|TAF1A_ENST00000543857.1_Missense_Mutation_p.E116D|TAF1A_ENST00000391882.1_Missense_Mutation_p.E2D|TAF1A_ENST00000465263.1_5'UTR	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	116					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TATTGAAACTCTCCATGTTGC	0.328																																						ENST00000350027.4																			0				kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18						c.(346-348)gaG>gaT		TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa							106.0	114.0	111.0					1																	222753158		2202	4300	6502	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222753158C>A	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.348G>T	1.37:g.222753158C>A	ENSP00000327072:p.Glu116Asp					TAF1A_ENST00000543857.1_Missense_Mutation_p.E116D|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Missense_Mutation_p.E2D|TAF1A_ENST00000391882.1_Missense_Mutation_p.E2D|TAF1A_ENST00000352967.4_Missense_Mutation_p.E116D	p.E116D	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	4	501	-			116					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.348G>T	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870416	0.72065	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000543857	T;T;T	0.50277	0.77;0.77;0.75	5.96	4.08	0.47627	.	0.231906	0.49916	D	0.000137	T	0.55986	0.1955	M	0.78637	2.42	0.31308	N	0.687423	P;P	0.49559	0.925;0.925	P;P	0.49597	0.616;0.54	T	0.65471	-0.6160	10	0.66056	D	0.02	-0.2917	10.7753	0.46346	0.0:0.8686:0.0:0.1314	.	116;116	B4DS21;Q15573	.;TAF1A_HUMAN	D	2;116;116;2;116	ENSP00000339976:E116D;ENSP00000327072:E116D;ENSP00000437725:E116D	ENSP00000339976:E116D	E	-	3	2	TAF1A	220819781	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.173000	0.31920	2.832000	0.97577	0.655000	0.94253	GAG		0.328	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		48	78	1	0	3.86361e-14	1	4.92368e-14	48	78				
CTSW	1521	broad.mit.edu	37	11	65650948	65650948	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65650948C>A	ENST00000307886.3	+	10	1066				FIBP_ENST00000426652.2_5'Flank|CTSW_ENST00000528419.1_Missense_Mutation_p.P358H	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W						immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CTCTTCCCACCTTCCCGCCCC	0.602																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(1072-1074)cCt>cAt		cathepsin W							112.0	118.0	116.0					11																	65650948		2201	4296	6497	SO:0001627	intron_variant	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650948C>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.1021-31C>A	11.37:g.65650948C>A						CTSW_ENST00000307886.3_Intron	p.P358H			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	9	1077	+			0					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.1073C>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111681	0.20714	.	.	ENSG00000172543	ENST00000528419	T	0.70631	-0.5	4.28	1.11	0.20524	.	.	.	.	.	T	0.50171	0.1600	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.29212	-1.0019	7	.	.	.	.	4.9793	0.14157	0.3663:0.5291:0.0:0.1046	.	358	E9PI30	.	H	358	ENSP00000436568:P358H	.	P	+	2	0	CTSW	65407524	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-0.199000	0.09491	0.268000	0.21939	0.491000	0.48974	CCT		0.602	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		6	80	1	0	0.00198382	1	0.00210581	6	80				
HDX	139324	broad.mit.edu	37	X	83724245	83724245	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83724245A>G	ENST00000297977.5	-	3	597	c.486T>C	c.(484-486)tgT>tgC	p.C162C	HDX_ENST00000506585.2_Silent_p.C104C|HDX_ENST00000373177.2_Silent_p.C162C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	162						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAGCATTTTTACAGTGTGCTA	0.353																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(484-486)tgT>tgC		highly divergent homeobox							208.0	170.0	183.0					X																	83724245		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724245A>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.486T>C	X.37:g.83724245A>G						HDX_ENST00000506585.2_Silent_p.C104C|HDX_ENST00000373177.2_Silent_p.C162C	p.C162C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	597	-			162					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.486T>C	CCDS35342.1																																																																																				0.353	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		13	133	0	0	0	1	0	13	133				
LRRC8E	80131	broad.mit.edu	37	19	7965224	7965224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7965224C>T	ENST00000306708.6	+	3	1918	c.1817C>T	c.(1816-1818)gCg>gTg	p.A606V	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_Missense_Mutation_p.A15T	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	606					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGCCTGGGTGCGCTGCAGGAA	0.632																																						ENST00000539278.1																			0											c.(43-45)Gca>Aca									41.0	41.0	41.0					19																	7965224		2203	4300	6503	SO:0001583	missense	0							g.chr19:7965224C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1817C>T	19.37:g.7965224C>T	ENSP00000306524:p.Ala606Val					LRRC8E_ENST00000306708.6_Missense_Mutation_p.A606V	p.A15T							1	3203	-								B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.43G>A	CCDS12189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.154|5.154	0.213925|0.213925	0.09810|0.09810	.|.	.|.	ENSG00000214248|ENSG00000171017	ENST00000539278|ENST00000306708	.|T	.|0.58210	.|0.35	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.292398|0.292398	0.31624|0.31624	N|N	0.007332|0.007332	T|T	0.44705|0.44705	0.1306|0.1306	L|L	0.58583|0.58583	1.82|1.82	0.09310|0.09310	N|N	1|1	.|P	.|0.50710	.|0.938	.|B	.|0.37943	.|0.261	T|T	0.54098|0.54098	-0.8344|-0.8344	7|10	0.87932|0.62326	D|D	0|0.03	.|.	10.1896|10.1896	0.43019|0.43019	0.1985:0.8015:0.0:0.0|0.1985:0.8015:0.0:0.0	.|.	.|606	.|Q6NSJ5	.|LRC8E_HUMAN	T|V	15|606	.|ENSP00000306524:A606V	ENSP00000441047:A15T|ENSP00000306524:A606V	A|A	-|+	1|2	0|0	AC010336.2|LRRC8E	7871224|7871224	0.800000|0.800000	0.28916|0.28916	0.013000|0.013000	0.15412|0.15412	0.007000|0.007000	0.05969|0.05969	2.221000|2.221000	0.42917|0.42917	2.434000|2.434000	0.82447|0.82447	0.585000|0.585000	0.79938|0.79938	GCA|GCG		0.632	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		17	18	0	0	0	1	0	17	18				
RNF113B	140432	broad.mit.edu	37	13	98828639	98828639	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98828639G>A	ENST00000267291.6	-	1	880	c.852C>T	c.(850-852)ttC>ttT	p.F284F	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	284							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGTGGCCCGGAAGTGCTCCA	0.557																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(850-852)ttC>ttT		ring finger protein 113B							99.0	105.0	103.0					13																	98828639		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98828639G>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.852C>T	13.37:g.98828639G>A						FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	p.F284F	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	880	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		284					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.852C>T	CCDS9486.1																																																																																				0.557	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		43	44	0	0	0	1	0	43	44				
SALL3	27164	broad.mit.edu	37	18	76754541	76754541	+	Silent	SNP	C	C	T	rs534654030		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754541C>T	ENST00000537592.2	+	2	2550	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	SALL3_ENST00000575389.2_Silent_p.I850I|SALL3_ENST00000536229.3_Silent_p.I717I	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	850					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGAAGATGATCGACTCGGTCA	0.667																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2149-2151)atC>atT		spalt-like transcription factor 3							43.0	45.0	44.0					18																	76754541		2203	4299	6502	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754541C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2550C>T	18.37:g.76754541C>T						SALL3_ENST00000537592.2_Silent_p.I850I|SALL3_ENST00000575389.2_Silent_p.I850I	p.I717I			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2860	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	850					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2151C>T	CCDS12013.1																																																																																				0.667	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		22	28	0	0	0	1	0	22	28				
TCTN1	79600	broad.mit.edu	37	12	111066763	111066763	+	Intron	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111066763A>C	ENST00000551590.1	+	4	780				TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000550703.2_Missense_Mutation_p.N222H|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000551555.2_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1						central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCCCATCACAAATATCTTTCC	0.353																																						ENST00000550703.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(664-666)Aat>Cat		tectonic family member 1							80.0	81.0	81.0					12																	111066763		1838	4090	5928	SO:0001627	intron_variant	79600				multicellular organismal development	extracellular region		g.chr12:111066763A>C	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.624+40A>C	12.37:g.111066763A>C						TCTN1_ENST00000551590.1_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551555.2_Intron	p.N222H			Q2MV58	TECT1_HUMAN			4	820	+			0					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.664A>C	CCDS41835.1																																																																																				0.353	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		3	36	0	0	0	1	0	3	36				
ZNF764	92595	broad.mit.edu	37	16	30567320	30567320	+	Missense_Mutation	SNP	G	G	A	rs368272428		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30567320G>A	ENST00000252797.2	-	3	502	c.422C>T	c.(421-423)tCg>tTg	p.S141L	ZNF764_ENST00000395091.2_Missense_Mutation_p.S140L|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S141L(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGGCCCGGCCGAGGGGGCTTG	0.677																																						ENST00000395091.2																			1	Substitution - Missense(1)	p.S141L(1)	skin(1)	kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(418-420)tCg>tTg		zinc finger protein 764		G	LEU/SER,LEU/SER	1,4393		0,1,2196	25.0	31.0	29.0		422,419	2.6	0.1	16		29	0,8596		0,0,4298	no	missense,missense	ZNF764	NM_033410.3,NM_001172679.1	145,145	0,1,6494	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	141/409,140/408	30567320	1,12989	2197	4298	6495	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567320G>A	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.422C>T	16.37:g.30567320G>A	ENSP00000252797:p.Ser141Leu					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.S141L	p.S140L			Q96H86	ZN764_HUMAN			3	734	-			141					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.419C>T	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	G	3.861	-0.029818	0.07589	2.28E-4	0.0	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.06371	3.31;3.31	4.64	2.63	0.31362	.	0.655352	0.12693	N	0.447054	T	0.05273	0.0140	N	0.22421	0.69	0.09310	N	1	B;B	0.15719	0.014;0.001	B;B	0.06405	0.002;0.001	T	0.37150	-0.9718	10	0.52906	T	0.07	-0.7022	9.4481	0.38710	0.1967:0.0:0.8033:0.0	.	140;141	B3KSN2;Q96H86	.;ZN764_HUMAN	L	141;140	ENSP00000252797:S141L;ENSP00000378526:S140L	ENSP00000252797:S141L	S	-	2	0	ZNF764	30474821	0.000000	0.05858	0.101000	0.21167	0.001000	0.01503	0.376000	0.20535	0.268000	0.21939	-1.119000	0.02030	TCG		0.677	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		14	22	0	0	0	1	0	14	22				
ETV6	2120	broad.mit.edu	37	12	12037475	12037475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12037475G>A	ENST00000396373.4	+	6	1380	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R369L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAATATTCCGGATAGTGGAT	0.458			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	1	Substitution - Missense(1)	p.R369L(1)	lung(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1105-1107)cGg>cAg		ets variant 6							117.0	108.0	111.0					12																	12037475		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037475G>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1106G>A	12.37:g.12037475G>A	ENSP00000379658:p.Arg369Gln						p.R369Q	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			6	1380	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	369					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1106G>A	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	36	5.727520	0.96847	.	.	ENSG00000139083	ENST00000396373	T	0.15718	2.4	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	N	0.20766	0.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10847	-1.0612	10	0.87932	D	0	.	19.2738	0.94021	0.0:0.0:1.0:0.0	.	369	P41212	ETV6_HUMAN	Q	369	ENSP00000379658:R369Q	ENSP00000379658:R369Q	R	+	2	0	ETV6	11928742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	CGG		0.458	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		26	76	0	0	0	1	0	26	76				
PLGRKT	55848	broad.mit.edu	37	9	5361188	5361188	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5361188C>A	ENST00000223864.2	-	5	434		c.e5-1		PLGRKT_ENST00000482696.1_5'Flank	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein						chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											TTTAATCGCTCTGTTTCAAGA	0.343																																						ENST00000223864.2																			0											c.e5-1		plasminogen receptor, C-terminal lysine transmembrane protein							58.0	57.0	58.0					9																	5361188		2203	4300	6503	SO:0001630	splice_region_variant	55848					integral to membrane		g.chr9:5361188C>A	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.213-1G>T	9.37:g.5361188C>A								NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN			5	434	-								B2R6W0|Q9NZ44	Splice_Site	SNP	ENST00000223864.2	37		CCDS6463.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712090	0.30322	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3004	0.94141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9orf46	5351188	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.930000	0.70104	2.648000	0.89879	0.650000	0.86243	.		0.343	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465	Intron	4	51	1	0	0.00909568	1	0.00947522	4	51				
NAA15	80155	broad.mit.edu	37	4	140272758	140272758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140272758A>G	ENST00000296543.5	+	9	1330	c.1007A>G	c.(1006-1008)aAa>aGa	p.K336R	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.K336R	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	336					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TACAAAGACAAAGAAAAGGTA	0.343																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1006-1008)aAa>aGa		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							83.0	82.0	82.0					4																	140272758		1818	4075	5893	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140272758A>G	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1007A>G	4.37:g.140272758A>G	ENSP00000296543:p.Lys336Arg					NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.K336R	p.K336R	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			9	1330	+			336					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.1007A>G	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687150	0.48097	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.45668	0.89;0.89	5.93	5.93	0.95920	.	0.105686	0.64402	D	0.000005	T	0.40272	0.1110	L	0.45051	1.395	0.80722	D	1	B	0.14805	0.011	B	0.23716	0.048	T	0.14117	-1.0484	10	0.40728	T	0.16	-23.8842	16.3786	0.83431	1.0:0.0:0.0:0.0	.	336	Q9BXJ9	NAA15_HUMAN	R	336;210;336	ENSP00000296543:K336R;ENSP00000381920:K336R	ENSP00000296543:K336R	K	+	2	0	NAA15	140492208	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.629000	0.67798	2.269000	0.75478	0.454000	0.30748	AAA		0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		3	78	0	0	0	1	0	3	78				
MYH1	4619	broad.mit.edu	37	17	10417403	10417403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10417403C>T	ENST00000226207.5	-	7	666	c.572G>A	c.(571-573)cGt>cAt	p.R191H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	191	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATGACACGCTTGGTGTT	0.433																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(571-573)cGt>cAt		myosin, heavy chain 1, skeletal muscle, adult							116.0	104.0	108.0					17																	10417403		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10417403C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.572G>A	17.37:g.10417403C>T	ENSP00000226207:p.Arg191His					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R191H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			7	666	-			191			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.572G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196103	0.94960	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.71341	-0.56	5.18	5.18	0.71444	Myosin head, motor domain (3);	0.000000	0.42053	U	0.000773	T	0.70159	0.3192	L	0.48877	1.53	0.58432	D	0.999999	P	0.35714	0.517	B	0.40375	0.327	T	0.69548	-0.5116	10	0.40728	T	0.16	.	19.0595	0.93081	0.0:1.0:0.0:0.0	.	191	P12882	MYH1_HUMAN	H	191	ENSP00000226207:R191H	ENSP00000226207:R191H	R	-	2	0	MYH1	10358128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.787000	0.85759	2.555000	0.86185	0.655000	0.94253	CGT		0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		13	63	0	0	0	1	0	13	63				
C22orf39	128977	broad.mit.edu	37	22	19431881	19431881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19431881G>A	ENST00000399562.4	-	3	768	c.336C>T	c.(334-336)gtC>gtT	p.V112V	C22orf39_ENST00000542103.1_Intron|C22orf39_ENST00000333059.5_Silent_p.V75V|C22orf39_ENST00000399568.1_Intron|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_173793.4	NP_776154.3	Q6P5X5	CV039_HUMAN	chromosome 22 open reading frame 39	112												Colorectal(54;0.0993)					GTGCAGCCCGGACTCGTGCCC	0.627																																						ENST00000399562.3																			0											c.(223-225)gtC>gtT		chromosome 22 open reading frame 39							47.0	46.0	46.0					22																	19431881		2203	4300	6503	SO:0001819	synonymous_variant	128977							g.chr22:19431881G>A		CCDS33599.1, CCDS33599.2, CCDS54498.1	22q11.21	2008-10-31			ENSG00000242259	ENSG00000242259			27012	protein-coding gene	gene with protein product							Standard	NM_173793		Approved	MGC74441	uc002zpk.2	Q6P5X5	OTTHUMG00000150137	ENST00000399562.4:c.336C>T	22.37:g.19431881G>A						C22orf39_ENST00000333059.4_Silent_p.V112V|C22orf39_ENST00000399568.1_Intron|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|C22orf39_ENST00000542103.1_Intron	p.V75V	NM_173793.4	NP_776154.3	Q6P5X5	CV039_HUMAN			3	768	-	Colorectal(54;0.0993)		75					A8MTW6|D3DX18|F5H3A8|J3KNP9	Silent	SNP	ENST00000399562.4	37	c.225C>T	CCDS33599.2																																																																																				0.627	C22orf39-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316494.3	NM_173793		15	11	0	0	0	1	0	15	11				
CSAD	51380	broad.mit.edu	37	12	53567532	53567532	+	5'UTR	SNP	G	G	A	rs530239389		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53567532G>A	ENST00000444623.1	-	0	241				CSAD_ENST00000379846.1_Intron|CSAD_ENST00000267085.4_Missense_Mutation_p.P19S|CSAD_ENST00000542115.1_5'UTR|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000453446.2_Intron|CSAD_ENST00000379843.3_5'UTR	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	AGGAGAGCCGGAGGCAGGGTG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20428	0.0		0.0	False		,,,				2504	0.0				Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(55-57)Ccg>Tcg		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						63.0	68.0	66.0					12																	53567532		1568	3582	5150	SO:0001623	5_prime_UTR_variant	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53567532G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.-27C>T	12.37:g.53567532G>A						CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000453446.2_Intron|CSAD_ENST00000444623.1_5'UTR|CSAD_ENST00000542115.1_5'UTR|CSAD_ENST00000379846.1_Intron	p.P19S	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			3	288	-			221					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.55C>T	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.782|7.782	0.709721|0.709721	0.15239|0.15239	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000267085|ENST00000379850	T|.	0.09911|.	2.93|.	3.78|3.78	2.85|2.85	0.33270|0.33270	.|.	0.618943|.	0.11948|.	U|.	0.513998|.	T|T	0.17577|0.17577	0.0422|0.0422	N|N	0.08118|0.08118	0|0	0.24421|0.24421	N|N	0.99462|0.99462	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.21177|0.21177	-1.0253|-1.0253	10|5	0.30078|.	T|.	0.28|.	3.3795|3.3795	6.5266|6.5266	0.22305|0.22305	0.1367:0.0:0.8633:0.0|0.1367:0.0:0.8633:0.0	.|.	19|.	Q9Y600-3|.	.|.	S|F	81;19|17	ENSP00000267085:P19S|.	ENSP00000267085:P19S|.	P|S	-|-	1|2	0|0	CSAD|CSAD	51853799|51853799	0.625000|0.625000	0.27111|0.27111	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	2.341000|2.341000	0.43983|0.43983	1.134000|1.134000	0.42165|0.42165	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.507	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		6	13	0	0	0	1	0	6	13				
ADAMTS12	81792	broad.mit.edu	37	5	33576661	33576661	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33576661C>A	ENST00000504830.1	-	19	3805	c.3470G>T	c.(3469-3471)aGt>aTt	p.S1157I	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1072I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1157	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCTGAGCCACTGTGAATCTC	0.468										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3469-3471)aGt>aTt		ADAM metallopeptidase with thrombospondin type 1 motif, 12							146.0	135.0	139.0					5																	33576661		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576661C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3470G>T	5.37:g.33576661C>A	ENSP00000422554:p.Ser1157Ile	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1072I	p.S1157I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3805	-			1157			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3470G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208370	0.79240	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60672	0.17;0.17	5.43	5.43	0.79202	.	0.399720	0.29861	N	0.011010	T	0.66376	0.2783	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.61691	-0.7011	10	0.33940	T	0.23	.	14.6068	0.68486	0.0:1.0:0.0:0.0	.	1072;1157	P58397-3;P58397	.;ATS12_HUMAN	I	1157;1072	ENSP00000422554:S1157I;ENSP00000344847:S1072I	ENSP00000344847:S1072I	S	-	2	0	ADAMTS12	33612418	0.999000	0.42202	0.948000	0.38648	0.990000	0.78478	3.175000	0.50855	2.824000	0.97209	0.655000	0.94253	AGT		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		11	100	1	0	1.5842e-08	1	1.90059e-08	11	100				
SAPCD2	89958	broad.mit.edu	37	9	139960050	139960050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139960050C>T	ENST00000409687.3	-	3	882	c.755G>A	c.(754-756)gGc>gAc	p.G252D	RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	252						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											CCAGTCGCGGCCCCGCGCCAT	0.632																																						ENST00000409687.3																			0											c.(754-756)gGc>gAc		suppressor APC domain containing 2							82.0	82.0	82.0					9																	139960050		2203	4300	6503	SO:0001583	missense	89958					cytoplasm|nucleus		g.chr9:139960050C>T	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.755G>A	9.37:g.139960050C>T	ENSP00000386348:p.Gly252Asp						p.G252D	NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN			3	882	-			252						Missense_Mutation	SNP	ENST00000409687.3	37	c.755G>A	CCDS7027.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467823	0.63625	.	.	ENSG00000186193	ENST00000409687	T	0.80909	-1.43	4.44	4.44	0.53790	.	0.078118	0.49916	D	0.000126	D	0.87281	0.6138	M	0.70275	2.135	0.38833	D	0.955885	D	0.89917	1.0	D	0.77557	0.99	D	0.88754	0.3252	10	0.72032	D	0.01	-9.331	10.4719	0.44642	0.0:0.8026:0.1974:0.0	.	252	Q86UD0	CI140_HUMAN	D	252	ENSP00000386348:G252D	ENSP00000386348:G252D	G	-	2	0	C9orf140	139079871	1.000000	0.71417	0.944000	0.38274	0.496000	0.33645	4.726000	0.61986	2.294000	0.77228	0.561000	0.74099	GGC		0.632	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		5	94	0	0	0	1	0	5	94				
SLC17A6	57084	broad.mit.edu	37	11	22396404	22396404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22396404C>T	ENST00000263160.3	+	9	1582	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTTCAACTACGACAGTGAGA	0.373																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(1144-1146)aCg>aTg		solute carrier family 17 (vesicular glutamate transporter), member 6							213.0	210.0	211.0					11																	22396404		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396404C>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1145C>T	11.37:g.22396404C>T	ENSP00000263160:p.Thr382Met						p.T382M	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			9	1582	+			382					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1145C>T	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826803	0.90955	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.67698	-0.28	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91045	0.4874	10	0.87932	D	0	.	20.6314	0.99525	0.0:1.0:0.0:0.0	.	382	Q9P2U8	VGLU2_HUMAN	M	382;270	ENSP00000263160:T382M	ENSP00000263160:T382M	T	+	2	0	SLC17A6	22352980	1.000000	0.71417	0.992000	0.48379	0.912000	0.54170	7.480000	0.81109	2.885000	0.99019	0.579000	0.79373	ACG		0.373	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		69	155	0	0	0	1	0	69	155				
CDC16	8881	broad.mit.edu	37	13	115012436	115012436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:115012436C>T	ENST00000356221.3	+	11	1036	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	CDC16_ENST00000375312.3_Missense_Mutation_p.L216F|CDC16_ENST00000252457.5_Missense_Mutation_p.L309F|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000375310.1_Missense_Mutation_p.L216F|CDC16_ENST00000252458.6_Missense_Mutation_p.L216F|CDC16_ENST00000360383.3_Missense_Mutation_p.L310F|CDC16_ENST00000375308.1_Missense_Mutation_p.L216F			Q13042	CDC16_HUMAN	cell division cycle 16	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATGTTACTATCTCATGGTCGG	0.328																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(928-930)Ctc>Ttc		cell division cycle 16							184.0	170.0	175.0					13																	115012436		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115012436C>T	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.928C>T	13.37:g.115012436C>T	ENSP00000348554:p.Leu310Phe					CDC16_ENST00000252458.6_Missense_Mutation_p.L216F|CDC16_ENST00000375308.1_Missense_Mutation_p.L216F|CDC16_ENST00000356221.3_Missense_Mutation_p.L310F|CDC16_ENST00000375310.1_Missense_Mutation_p.L216F|CDC16_ENST00000252457.5_Missense_Mutation_p.L309F|CDC16_ENST00000375312.3_Missense_Mutation_p.L216F	p.L310F	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		11	1126	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	310					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.928C>T	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504802	0.44558	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T;T;T	0.76060	0.49;-0.99;0.49;0.49;0.49;0.49;-0.99	5.92	4.19	0.49359	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	N	0.20986	0.625	0.80722	D	1	P;P;P	0.48998	0.475;0.894;0.918	B;B;B	0.39617	0.19;0.292;0.305	T	0.58629	-0.7603	9	.	.	.	-10.4679	13.0579	0.58990	0.0:0.8677:0.0:0.1323	.	309;309;310	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	F	310;216;310;216;309;216;216	ENSP00000353549:L310F;ENSP00000364461:L216F;ENSP00000348554:L310F;ENSP00000364459:L216F;ENSP00000252457:L309F;ENSP00000364457:L216F;ENSP00000252458:L216F	.	L	+	1	0	CDC16	114030538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.396000	0.66297	1.513000	0.48852	0.655000	0.94253	CTC		0.328	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		18	47	0	0	0	1	0	18	47				
MLYCD	23417	broad.mit.edu	37	16	83945881	83945881	+	Missense_Mutation	SNP	C	C	T	rs376453144		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83945881C>T	ENST00000262430.4	+	4	876	c.857C>T	c.(856-858)gCg>gTg	p.A286V	RP11-505K9.4_ENST00000561562.1_3'UTR|RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.A56V	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	286	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATCACTGCTGCGATCTTTTAT	0.507																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(856-858)gCg>gTg		malonyl-CoA decarboxylase		C	VAL/ALA	0,3948		0,0,1974	80.0	84.0	83.0		857	4.3	0.1	16		83	1,8321		0,1,4160	no	missense	MLYCD	NM_012213.2	64	0,1,6134	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	286/494	83945881	1,12269	1974	4161	6135	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83945881C>T	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.857C>T	16.37:g.83945881C>T	ENSP00000262430:p.Ala286Val					RP11-505K9.4_ENST00000561562.1_RNA	p.A286V	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			4	876	+			286					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.857C>T	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935667	0.52972	0.0	1.2E-4	ENSG00000103150	ENST00000262430	D	0.93076	-3.16	5.23	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.97328	0.9126	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98048	1.0386	10	0.87932	D	0	-33.5329	13.3789	0.60757	0.0:0.9236:0.0:0.0764	.	286	O95822	DCMC_HUMAN	V	286	ENSP00000262430:A286V	ENSP00000262430:A286V	A	+	2	0	MLYCD	82503382	1.000000	0.71417	0.113000	0.21522	0.001000	0.01503	6.979000	0.76154	1.347000	0.45714	-0.150000	0.13652	GCG		0.507	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		48	51	0	0	0	1	0	48	51				
CD180	4064	broad.mit.edu	37	5	66478853	66478853	+	Silent	SNP	C	C	T	rs557132138		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66478853C>T	ENST00000256447.4	-	3	1975	c.1818G>A	c.(1816-1818)acG>acA	p.T606T	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	606	LRRCT.				B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTTGCACACGTGGTCTCCT	0.428																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(1816-1818)acG>acA		CD180 molecule							127.0	127.0	127.0					5																	66478853		2203	4300	6503	SO:0001819	synonymous_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66478853C>T	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1818G>A	5.37:g.66478853C>T							p.T606T	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1975	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	606			LRRCT.		B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	c.1818G>A	CCDS3992.1																																																																																				0.428	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		27	54	0	0	0	1	0	27	54				
TRPV1	7442	broad.mit.edu	37	17	3477025	3477025	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3477025T>G	ENST00000571088.1	-	13	2218	c.2005A>C	c.(2005-2007)Att>Ctt	p.I669L	SHPK_ENST00000572705.1_Missense_Mutation_p.I669L|TRPV1_ENST00000425167.2_Missense_Mutation_p.I680L|TRPV1_ENST00000576351.1_Missense_Mutation_p.I659L|TRPV1_ENST00000174621.6_Missense_Mutation_p.I667L|TRPV1_ENST00000399756.4_Missense_Mutation_p.I669L|TRPV1_ENST00000399759.3_Missense_Mutation_p.I669L|TRPV1_ENST00000310522.5_Missense_Mutation_p.I609L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	669					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAGGTGAGAATTACATAGGCC	0.517																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1999-2001)Att>Ctt		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						146.0	148.0	147.0					17																	3477025		2202	4300	6502	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3477025T>G	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2005A>C	17.37:g.3477025T>G	ENSP00000461007:p.Ile669Leu					TRPV1_ENST00000399759.3_Missense_Mutation_p.I669L|TRPV1_ENST00000310522.5_Missense_Mutation_p.I609L|TRPV1_ENST00000399756.4_Missense_Mutation_p.I669L|SHPK_ENST00000572705.1_Missense_Mutation_p.I669L|TRPV1_ENST00000571088.1_Missense_Mutation_p.I669L|TRPV1_ENST00000576351.1_Missense_Mutation_p.I659L|TRPV1_ENST00000425167.2_Missense_Mutation_p.I680L	p.I667L			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	12	2288	-			669					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.1999A>C	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894509	0.33442	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.51	5.51	0.81932	Ion transport (1);	0.108130	0.64402	D	0.000005	T	0.80025	0.4548	L	0.35249	1.045	0.50171	D	0.999857	B;D;B;P	0.55800	0.08;0.973;0.052;0.7	B;P;B;B	0.53549	0.085;0.729;0.039;0.28	T	0.78481	-0.2187	10	0.31617	T	0.26	-15.9361	15.118	0.72419	0.0:0.0:0.0:1.0	.	669;667;609;680	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	669;669;667;680;609	ENSP00000382661:I669L;ENSP00000382659:I669L;ENSP00000174621:I667L;ENSP00000409627:I680L;ENSP00000311692:I609L	ENSP00000174621:I667L	I	-	1	0	TRPV1	3423775	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	3.902000	0.56310	2.234000	0.73211	0.402000	0.26972	ATT		0.517	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		3	41	0	0	0	1	0	3	41				
WDR72	256764	broad.mit.edu	37	15	53957930	53957930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53957930G>A	ENST00000396328.1	-	14	2040	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	WDR72_ENST00000360509.5_Nonsense_Mutation_p.R601*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R598*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R611*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	601										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAATAATTCGTGCTCTTTCT	0.383																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1801-1803)Cga>Tga		WD repeat domain 72							128.0	115.0	120.0					15																	53957930		2194	4293	6487	SO:0001587	stop_gained	256764							g.chr15:53957930G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1801C>T	15.37:g.53957930G>A	ENSP00000379619:p.Arg601*					WDR72_ENST00000557913.1_Nonsense_Mutation_p.R598*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R611*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R601*	p.R601*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	14	2040	-			601					Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	c.1801C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	38	7.137493	0.98088	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.57	3.25	0.37280	.	0.267166	0.36555	N	0.002529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	11.7831	0.52026	0.0:0.0:0.316:0.684	.	.	.	.	X	601	.	ENSP00000353699:R601X	R	-	1	2	WDR72	51745222	0.975000	0.34042	0.739000	0.30968	0.986000	0.74619	2.951000	0.49089	0.409000	0.25649	0.563000	0.77884	CGA		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		17	42	0	0	0	1	0	17	42				
DOPEY1	23033	broad.mit.edu	37	6	83857007	83857007	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83857007A>G	ENST00000349129.2	+	26	5989	c.5729A>G	c.(5728-5730)cAa>cGa	p.Q1910R	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1901R|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1891R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1910					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTTATATTCAAAGGTAAGAT	0.284																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5728-5730)cAa>cGa		dopey family member 1							72.0	69.0	70.0					6																	83857007		2201	4286	6487	SO:0001583	missense	23033				protein transport			g.chr6:83857007A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5729A>G	6.37:g.83857007A>G	ENSP00000195654:p.Gln1910Arg					DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1901R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1891R	p.Q1910R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	26	5989	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1910					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.5729A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632589	0.67015	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.26810	1.78;1.71	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	L	0.46157	1.445	0.80722	D	1	P;B;B	0.35656	0.514;0.112;0.112	B;B;B	0.30646	0.118;0.033;0.033	T	0.02603	-1.1135	10	0.40728	T	0.16	.	16.0977	0.81139	1.0:0.0:0.0:0.0	.	1801;1901;1910	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	1910;1891;1891	ENSP00000195654:Q1910R;ENSP00000237163:Q1891R	ENSP00000237163:Q1891R	Q	+	2	0	DOPEY1	83913726	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.887000	0.92456	2.215000	0.71742	0.459000	0.35465	CAA		0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		12	24	0	0	0	1	0	12	24				
MRPL55	128308	broad.mit.edu	37	1	228294577	228294577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228294577C>T	ENST00000411464.2	-	5	1064	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MRPL55_ENST00000430433.1_Missense_Mutation_p.A127T|MRPL55_ENST00000366738.1_Missense_Mutation_p.A127T|MRPL55_ENST00000366733.1_Missense_Mutation_p.A91T|MRPL55_ENST00000295008.4_Missense_Mutation_p.A91T|MRPL55_ENST00000366736.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366732.1_Missense_Mutation_p.A88T|MRPL55_ENST00000366735.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366747.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366740.1_Missense_Mutation_p.A91T|MRPL55_ENST00000336300.5_Missense_Mutation_p.A91T|MRPL55_ENST00000366731.5_Missense_Mutation_p.A127T|MRPL55_ENST00000348259.5_Missense_Mutation_p.A91T|MRPL55_ENST00000336520.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366742.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366741.1_Missense_Mutation_p.A91T|MRPL55_ENST00000391867.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366739.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366746.3_Missense_Mutation_p.A91T|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366744.1_Missense_Mutation_p.A91T|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366734.1_Missense_Mutation_p.A91T			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	91					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CGCAGCCTGGCCCGGCGCTCC	0.597																																						ENST00000366731.5																			0				central_nervous_system(1)|lung(4)	5						c.(379-381)Gcc>Acc		mitochondrial ribosomal protein L55							87.0	73.0	78.0					1																	228294577		2203	4300	6503	SO:0001583	missense	128308				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr1:228294577C>T	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.271G>A	1.37:g.228294577C>T	ENSP00000401737:p.Ala91Thr					MRPL55_ENST00000430433.1_Missense_Mutation_p.A127T|MRPL55_ENST00000391867.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366736.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366739.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366735.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366740.1_Missense_Mutation_p.A91T|MRPL55_ENST00000411464.2_Missense_Mutation_p.A91T|MRPL55_ENST00000366747.3_Missense_Mutation_p.A91T|MRPL55_ENST00000336300.5_Missense_Mutation_p.A91T|MRPL55_ENST00000366738.1_Missense_Mutation_p.A127T|MRPL55_ENST00000366733.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366744.1_Missense_Mutation_p.A91T|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366742.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366732.1_Missense_Mutation_p.A88T|MRPL55_ENST00000366734.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366746.3_Missense_Mutation_p.A91T|MRPL55_ENST00000295008.4_Missense_Mutation_p.A91T|MRPL55_ENST00000348259.5_Missense_Mutation_p.A91T|MRPL55_ENST00000336520.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366741.1_Missense_Mutation_p.A91T	p.A127T			Q7Z7F7	RM55_HUMAN			6	1172	-		Prostate(94;0.0405)	91					Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	ENST00000411464.2	37	c.379G>A	CCDS1567.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370680	0.42003	.	.	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.64	2.72	0.32119	.	0.855557	0.10264	N	0.695521	T	0.39226	0.1070	M	0.76328	2.33	0.33823	D	0.62933	P;P	0.46142	0.873;0.645	P;P	0.44990	0.466;0.451	T	0.55425	-0.8143	10	0.59425	D	0.04	-3.0954	9.5493	0.39299	0.0:0.8104:0.0:0.1896	.	127;91	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	T	88;91;91;91;91;127;91;91;91;91;91;91;91;91;91;91;91;127;91;127;91	ENSP00000355693:A88T;ENSP00000355694:A91T;ENSP00000355695:A91T;ENSP00000355696:A91T;ENSP00000355697:A91T;ENSP00000355699:A127T;ENSP00000355702:A91T;ENSP00000355701:A91T;ENSP00000355700:A91T;ENSP00000355703:A91T;ENSP00000355705:A91T;ENSP00000338189:A91T;ENSP00000355708:A91T;ENSP00000355707:A91T;ENSP00000295008:A91T;ENSP00000337342:A91T;ENSP00000337361:A91T;ENSP00000403614:A127T;ENSP00000375740:A91T;ENSP00000355692:A127T;ENSP00000401737:A91T	ENSP00000295008:A91T	A	-	1	0	MRPL55	226361200	0.035000	0.19736	0.529000	0.27951	0.078000	0.17371	0.975000	0.29449	1.077000	0.40990	0.491000	0.48974	GCC		0.597	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092808.1	XM_059233		35	42	0	0	0	1	0	35	42				
SCIMP	388325	broad.mit.edu	37	17	5114138	5114138	+	Silent	SNP	G	G	A	rs374828071		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5114138G>A	ENST00000574081.1	-	5	500	c.396C>T	c.(394-396)gaC>gaT	p.D132D	RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Silent_p.D125D|RP11-333E1.1_ENST00000575601.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	132	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											TTTCAACATCGTCATAGTCAT	0.383																																						ENST00000574081.1																			0											c.(394-396)gaC>gaT		SLP adaptor and CSK interacting membrane protein		G		0,3720		0,0,1860	142.0	132.0	135.0		396	-4.9	0.9	17		135	1,8209		0,1,4104	no	coding-synonymous	C17orf87	NM_207103.2		0,1,5964	AA,AG,GG		0.0122,0.0,0.0084		132/146	5114138	1,11929	1860	4105	5965	SO:0001819	synonymous_variant	388325					integral to membrane		g.chr17:5114138G>A	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.396C>T	17.37:g.5114138G>A						RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Silent_p.D125D	p.D132D	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN			5	500	-			132					A6XGL4|B4DLK1|Q96MD0	Silent	SNP	ENST00000574081.1	37	c.396C>T	CCDS42242.1																																																																																				0.383	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		59	17	0	0	0	1	0	59	17				
UBC	7316	broad.mit.edu	37	12	125397435	125397435	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125397435G>T	ENST00000536769.1	-	1	2459	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.L295M|UBC_ENST00000546120.1_Missense_Mutation_p.L219M|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	295	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAGGGTAGACTCT	0.547																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(883-885)Ctg>Atg		ubiquitin C							71.0	65.0	67.0					12																	125397435		2202	4284	6486	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397435G>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.883C>A	12.37:g.125397435G>T	ENSP00000441543:p.Leu295Met					UBC_ENST00000339647.5_Missense_Mutation_p.L295M|UBC_ENST00000546120.1_Missense_Mutation_p.L219M|UBC_ENST00000538617.1_Intron	p.L295M			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2459	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		295			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.883C>A	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	11.24	1.580364	0.28180	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.39056	1.1;1.1;1.1	2.93	1.99	0.26369	Ubiquitin supergroup (1);Ubiquitin (2);	0.180670	0.20971	U	0.082394	T	0.64853	0.2636	M	0.91090	3.175	0.53688	D	0.999976	P;P;P	0.48089	0.855;0.681;0.905	P;P;P	0.61722	0.893;0.538;0.893	T	0.67090	-0.5758	10	0.87932	D	0	.	8.338	0.32225	0.1279:0.0:0.8721:0.0	.	384;295;295	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	M	295;295;219;295;219	ENSP00000441543:L295M;ENSP00000344818:L295M;ENSP00000438394:L219M	ENSP00000344818:L295M	L	-	1	2	UBC	123963388	1.000000	0.71417	0.997000	0.53966	0.509000	0.34042	3.134000	0.50538	0.560000	0.29169	0.543000	0.68304	CTG		0.547	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		52	97	1	0	8.27458e-37	1	1.11411e-36	52	97				
SNORD113-3	767563	broad.mit.edu	37	14	101396321	101396321	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101396321G>T	ENST00000364830.2	+	0	66				SNORD113-2_ENST00000391082.1_RNA	NR_003231.1				small nucleolar RNA, C/D box 113-3																		gtaactctgaggtccaTTATA	0.338																																						ENST00000364830.2																			0																				145.0	146.0	146.0					14																	101396321		876	1991	2867			0							g.chr14:101396321G>T			14q32.31	2013-09-05			ENSG00000201700	ENSG00000201700		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	32982	non-coding RNA	RNA, small nucleolar						12045206	Standard	NR_003231		Approved	14q(I-3)					14.37:g.101396321G>T								NR_003231.1						0	66	+									RNA	SNP	ENST00000364830.2	37																																																																																						0.338	SNORD113-3-201	KNOWN	basic	snoRNA	snoRNA		NR_003231.1		8	100	1	0	0.000442599	1	0.00048047	8	100				
DOCK10	55619	broad.mit.edu	37	2	225727444	225727444	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225727444T>G	ENST00000258390.7	-	14	1689	c.1622A>C	c.(1621-1623)aAa>aCa	p.K541T	DOCK10_ENST00000409592.3_Missense_Mutation_p.K535T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	541					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGTTGGATTTTAGTATCTT	0.303																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1603-1605)aAa>aCa		dedicator of cytokinesis 10							80.0	79.0	79.0					2																	225727444		1823	4070	5893	SO:0001583	missense	55619						GTP binding	g.chr2:225727444T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1622A>C	2.37:g.225727444T>G	ENSP00000258390:p.Lys541Thr					DOCK10_ENST00000258390.7_Missense_Mutation_p.K541T	p.K535T			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	14	1717	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	541					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1604A>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284994	0.80803	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.57273	0.41;0.41	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.80746	2.51	0.52099	D	0.99994	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.954;0.999;0.982	T	0.78458	-0.2196	10	0.87932	D	0	.	15.264	0.73646	0.0:0.0:0.0:1.0	.	541;541;535	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	T	535;541	ENSP00000386694:K535T;ENSP00000258390:K541T	ENSP00000258390:K541T	K	-	2	0	DOCK10	225435688	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.652000	0.83633	2.069000	0.61940	0.533000	0.62120	AAA		0.303	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			4	26	0	0	0	1	0	4	26				
ZACN	353174	broad.mit.edu	37	17	74077726	74077726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74077726G>A	ENST00000334586.5	+	7	853	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	257	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGCCCCTCCGGGCCATTGAG	0.622																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(769-771)cGg>cAg		zinc activated ligand-gated ion channel							116.0	110.0	112.0					17																	74077726		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077726G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.770G>A	17.37:g.74077726G>A	ENSP00000334854:p.Arg257Gln					EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	p.R257Q	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	853	+			257			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.770G>A	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	G	2.851	-0.238257	0.05944	.	.	ENSG00000186919	ENST00000334586	D	0.81739	-1.53	4.64	-9.27	0.00659	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.967530	0.00819	N	0.001570	T	0.75384	0.3842	L	0.54323	1.7	0.19775	N	0.99995	B	0.10296	0.003	B	0.01281	0.0	T	0.62378	-0.6867	10	0.66056	D	0.02	-2.7039	12.9828	0.58575	0.7288:0.0932:0.178:0.0	.	257	Q401N2	ZACN_HUMAN	Q	257	ENSP00000334854:R257Q	ENSP00000334854:R257Q	R	+	2	0	ZACN	71589321	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.242000	0.02908	-2.346000	0.00621	-0.362000	0.07510	CGG		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		43	59	0	0	0	1	0	43	59				
OR52W1	120787	broad.mit.edu	37	11	6221305	6221305	+	Silent	SNP	C	C	T	rs374054864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221305C>T	ENST00000311352.2	+	1	930	c.852C>T	c.(850-852)aaC>aaT	p.N284N	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCTCCAACATCTACTTGC	0.527																																						ENST00000311352.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(850-852)aaC>aaT		olfactory receptor, family 52, subfamily W, member 1							338.0	328.0	332.0					11																	6221305		2201	4296	6497	SO:0001819	synonymous_variant	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221305C>T	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.852C>T	11.37:g.6221305C>T							p.N284N	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	930	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	284					Q8NH78	Silent	SNP	ENST00000311352.2	37	c.852C>T	CCDS31407.1																																																																																				0.527	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		158	214	0	0	0	1	0	158	214				
CCDC108	255101	broad.mit.edu	37	2	219884251	219884251	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219884251G>T	ENST00000341552.5	-	20	3533	c.3450C>A	c.(3448-3450)acC>acA	p.T1150T	CCDC108_ENST00000453220.1_Silent_p.T1150T|CCDC108_ENST00000441968.1_Silent_p.T1150T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1150						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCTTGTAGGTGAGCTCAC	0.622																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3448-3450)acC>acA		coiled-coil domain containing 108							24.0	25.0	25.0					2																	219884251		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219884251G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3450C>A	2.37:g.219884251G>T						CCDC108_ENST00000441968.1_Silent_p.T1150T|CCDC108_ENST00000453220.1_Silent_p.T1150T	p.T1150T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3533	-		Renal(207;0.0915)	1150					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3450C>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	9.575	1.122115	0.20877	.	.	ENSG00000181378	ENST00000413871	.	.	.	5.04	4.15	0.48705	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52102	-0.8620	4	.	.	.	-15.9913	5.2418	0.15475	0.0768:0.1458:0.6263:0.1511	.	.	.	.	H	59	.	.	P	-	2	0	CCDC108	219592495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.074000	0.41529	1.323000	0.45263	0.561000	0.74099	CCT		0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		3	24	1	0	0.004672	1	0.0049138	3	24				
SLC22A4	6583	broad.mit.edu	37	5	131671563	131671563	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131671563C>A	ENST00000200652.3	+	8	1488	c.1314C>A	c.(1312-1314)acC>acA	p.T438T	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	438					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TTGGGATCACCTCTGCTTTCT	0.488																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1312-1314)acC>acA		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						234.0	231.0	232.0					5																	131671563		2203	4300	6503	SO:0001819	synonymous_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131671563C>A	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1314C>A	5.37:g.131671563C>A						AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	p.T438T	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1488	+		all_cancers(142;0.0752)|Breast(839;0.198)	438					O14546	Silent	SNP	ENST00000200652.3	37	c.1314C>A	CCDS4153.1																																																																																				0.488	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		7	194	1	0	0.00448238	1	0.00472561	7	194				
PLIN4	729359	broad.mit.edu	37	19	4499514	4499514	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499514C>T	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Silent_p.D534D|HDGFRP2_ENST00000586684.1_Silent_p.D534D	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CGAACAAGGACGTAATGGAGA	0.602																																						ENST00000301284.4																			0											c.(1600-1602)gaC>gaT									34.0	39.0	38.0					19																	4499514		1979	4136	6115	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499514C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499514C>T						HDGFRP2_ENST00000586684.1_Silent_p.D534D	p.D534D	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			14	1666	+			534					A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1602C>T	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		9	7	0	0	0	1	0	9	7				
FAM160B2	64760	broad.mit.edu	37	8	21957283	21957283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21957283C>T	ENST00000289921.7	+	10	1266	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	407										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CGCTCCCCTGCGCTGCTGCGG	0.672																																						ENST00000289921.7																			0				endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						c.(1219-1221)gCg>gTg		family with sequence similarity 160, member B2							43.0	48.0	46.0					8																	21957283		2057	4198	6255	SO:0001583	missense	64760							g.chr8:21957283C>T	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1220C>T	8.37:g.21957283C>T	ENSP00000289921:p.Ala407Val						p.A407V	NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN			10	1266	+			407					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.1220C>T	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	6.454	0.451837	0.12283	.	.	ENSG00000158863	ENST00000289921	T	0.62941	-0.01	5.64	2.82	0.32997	.	0.185723	0.48286	D	0.000200	T	0.51278	0.1665	L	0.52011	1.625	0.22601	N	0.998947	B	0.21821	0.061	B	0.25987	0.065	T	0.35748	-0.9776	10	0.12766	T	0.61	-3.7364	9.4733	0.38856	0.0:0.6561:0.2687:0.0752	.	407	Q86V87	F16B2_HUMAN	V	407	ENSP00000289921:A407V	ENSP00000289921:A407V	A	+	2	0	FAM160B2	22013228	0.000000	0.05858	0.006000	0.13384	0.175000	0.22909	0.805000	0.27112	0.303000	0.22785	0.655000	0.94253	GCG		0.672	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			17	14	0	0	0	1	0	17	14				
RETN	56729	broad.mit.edu	37	19	7735145	7735145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7735145C>T	ENST00000221515.2	+	4	325	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RETN_ENST00000381324.2_Silent_p.G53G	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	79					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						CCGCCTGTGGCTCGTGGGATG	0.697																																						ENST00000221515.2																			0				ovary(1)	1						c.(235-237)ggC>ggT		resistin							10.0	11.0	10.0					19																	7735145		2099	4118	6217	SO:0001819	synonymous_variant	56729						hormone activity	g.chr19:7735145C>T	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.237C>T	19.37:g.7735145C>T						RETN_ENST00000381324.2_Silent_p.G53G	p.G79G	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			4	325	+			79					D6W649|Q540D9|Q76B53	Silent	SNP	ENST00000221515.2	37	c.237C>T	CCDS12182.1																																																																																				0.697	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		6	5	0	0	0	1	0	6	5				
PTPN11	5781	broad.mit.edu	37	12	112919928	112919928	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112919928C>T	ENST00000351677.2	+	10	1341	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	PTPN11_ENST00000392597.1_Silent_p.G381G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	381	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGAATATGGCGTCATGCGTG	0.368			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1141-1143)ggC>ggT		protein tyrosine phosphatase, non-receptor type 11							89.0	85.0	86.0					12																	112919928		2203	4297	6500	SO:0001819	synonymous_variant	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112919928C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1143C>T	12.37:g.112919928C>T						PTPN11_ENST00000392597.1_Silent_p.G381G	p.G381G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			10	1341	+			381			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.1143C>T	CCDS9163.1																																																																																				0.368	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			20	37	0	0	0	1	0	20	37				
FSCN1	6624	broad.mit.edu	37	7	5643168	5643168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5643168G>A	ENST00000382361.3	+	3	1145	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	FSCN1_ENST00000340250.6_Missense_Mutation_p.R323H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	344					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGTGACCGGCGCATCACACTG	0.622																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1030-1032)cGc>cAc		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							80.0	81.0	81.0					7																	5643168		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5643168G>A	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1031G>A	7.37:g.5643168G>A	ENSP00000371798:p.Arg344His					FSCN1_ENST00000340250.6_Missense_Mutation_p.R323H	p.R344H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	3	1145	+		Ovarian(82;0.0694)	344					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1031G>A	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360144	0.61403	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000444748;ENST00000447103;ENST00000405801;ENST00000535097	T;T	0.45668	0.89;1.47	4.45	4.45	0.53987	Fascin domain (1);Actin cross-linking (1);	0.064356	0.53938	D	0.000055	T	0.65883	0.2734	M	0.83012	2.62	0.41383	D	0.987561	P;D	0.76494	0.896;0.999	B;D	0.65140	0.108;0.932	T	0.74006	-0.3803	10	0.87932	D	0	-5.3103	16.4319	0.83847	0.0:0.0:1.0:0.0	.	323;344	B3KTA3;Q16658	.;FSCN1_HUMAN	H	323;344;66;66;66;66	ENSP00000339729:R323H;ENSP00000371798:R344H	ENSP00000339729:R323H	R	+	2	0	FSCN1	5609694	0.972000	0.33761	0.975000	0.42487	0.995000	0.86356	4.991000	0.63883	2.173000	0.68751	0.561000	0.74099	CGC		0.622	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		10	48	0	0	0	1	0	10	48				
SLC22A3	6581	broad.mit.edu	37	6	160829798	160829798	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160829798A>G	ENST00000275300.2	+	4	854	c.702A>G	c.(700-702)gtA>gtG	p.V234V	SLC22A3_ENST00000392145.1_Silent_p.V234V	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	234					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CAGAAATAGTAGGTTCGAAAC	0.403																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(700-702)gtA>gtG		solute carrier family 22 (organic cation transporter), member 3							117.0	114.0	115.0					6																	160829798		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160829798A>G	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.702A>G	6.37:g.160829798A>G						SLC22A3_ENST00000275300.2_Silent_p.V234V	p.V234V			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	4	729	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	234					Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.702A>G	CCDS5277.1																																																																																				0.403	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		4	53	0	0	0	1	0	4	53				
RHOT1	55288	broad.mit.edu	37	17	30521076	30521076	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30521076A>G	ENST00000333942.6	+	11	1058	c.819A>G	c.(817-819)cgA>cgG	p.R273R	RHOT1_ENST00000354266.3_Silent_p.R252R|RHOT1_ENST00000583994.1_Silent_p.R146R|RHOT1_ENST00000545287.2_Silent_p.R273R|RHOT1_ENST00000358365.3_Silent_p.R273R|RHOT1_ENST00000581094.1_Silent_p.R273R|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000394692.2_Silent_p.R273R	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGCTTCGACGATTTGGTTATG	0.333																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(817-819)cgA>cgG		ras homolog family member T1							481.0	469.0	473.0					17																	30521076		2203	4300	6503	SO:0001819	synonymous_variant	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30521076A>G	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.819A>G	17.37:g.30521076A>G						RHOT1_ENST00000581094.1_Silent_p.R273R|RHOT1_ENST00000394692.2_Silent_p.R273R|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Silent_p.R273R|RHOT1_ENST00000583994.1_Silent_p.R146R|RHOT1_ENST00000354266.3_Silent_p.R252R|RHOT1_ENST00000333942.6_Silent_p.R273R	p.R273R	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			11	1046	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	273					A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Silent	SNP	ENST00000333942.6	37	c.819A>G	CCDS32612.1																																																																																				0.333	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		190	326	0	0	0	1	0	190	326				
AHNAK	79026	broad.mit.edu	37	11	62295065	62295065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62295065G>A	ENST00000378024.4	-	5	7098	c.6824C>T	c.(6823-6825)tCa>tTa	p.S2275L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2275					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACATCAAC	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6823-6825)tCa>tTa		AHNAK nucleoprotein							227.0	228.0	228.0					11																	62295065		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295065G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6824C>T	11.37:g.62295065G>A	ENSP00000367263:p.Ser2275Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.S2275L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7098	-		Melanoma(852;0.155)	2275					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6824C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	9.408	1.079863	0.20309	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01804	4.63	3.38	1.16	0.20824	.	1.386420	0.05661	U	0.586814	T	0.06325	0.0163	M	0.93720	3.45	0.09310	N	1	P	0.49253	0.921	B	0.38985	0.287	T	0.49688	-0.8913	10	0.56958	D	0.05	-0.9802	11.4053	0.49894	0.0:0.0:0.5902:0.4098	.	2275	Q09666	AHNK_HUMAN	L	364;2275	ENSP00000367263:S2275L	ENSP00000244934:S364L	S	-	2	0	AHNAK	62051641	0.632000	0.27172	0.006000	0.13384	0.354000	0.29330	1.075000	0.30716	0.717000	0.32145	0.291000	0.19559	TCA		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		89	188	0	0	0	1	0	89	188				
VAMP8	8673	broad.mit.edu	37	2	85808760	85808760	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85808760A>C	ENST00000263864.5	+	3	380	c.224A>C	c.(223-225)aAg>aCg	p.K75T	VAMP5_ENST00000306384.4_5'Flank|VAMP8_ENST00000409760.1_3'UTR|VAMP8_ENST00000432071.1_Missense_Mutation_p.K49T	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	75					autophagic vacuole fusion (GO:0000046)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)		p.K75M(1)		breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						AAGAACGTGAAGATGATTGTC	0.483																																						ENST00000263864.5																			1	Substitution - Missense(1)	p.K75M(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						c.(223-225)aAg>aCg		vesicle-associated membrane protein 8							468.0	396.0	421.0					2																	85808760		2203	4300	6503	SO:0001583	missense	8673				post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane		g.chr2:85808760A>C	AF053233	CCDS1979.1	2p12-p11.2	2013-02-13	2012-10-17		ENSG00000118640	ENSG00000118640		"""Vesicle-associated membrane proteins"""	12647	protein-coding gene	gene with protein product	"""endobrevin"""	603177				9878266, 9614193	Standard	NM_003761		Approved	EDB	uc002spt.4	Q9BV40	OTTHUMG00000130180	ENST00000263864.5:c.224A>C	2.37:g.85808760A>C	ENSP00000263864:p.Lys75Thr					VAMP8_ENST00000409760.1_3'UTR|VAMP8_ENST00000432071.1_Missense_Mutation_p.K49T	p.K75T	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN			3	380	+			75					O60625|Q53SP9|Q6IB09	Missense_Mutation	SNP	ENST00000263864.5	37	c.224A>C	CCDS1979.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376765	0.82682	.	.	ENSG00000118640	ENST00000432071;ENST00000263864	T;T	0.59772	0.24;0.24	5.55	5.55	0.83447	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	T	0.81163	0.4765	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85809	0.1378	10	0.87932	D	0	0.7357	12.0108	0.53286	1.0:0.0:0.0:0.0	.	75	Q9BV40	VAMP8_HUMAN	T	49;75	ENSP00000407984:K49T;ENSP00000263864:K75T	ENSP00000263864:K75T	K	+	2	0	VAMP8	85662271	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.592000	0.82676	2.333000	0.79357	0.533000	0.62120	AAG		0.483	VAMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252498.3	NM_003761		12	265	0	0	0	1	0	12	265				
RASD1	51655	broad.mit.edu	37	17	17399332	17399332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17399332G>T	ENST00000225688.3	-	1	375	c.164C>A	c.(163-165)cCt>cAt	p.P55H	RASD1_ENST00000579152.1_Missense_Mutation_p.P55H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	55					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CTCGATGGTAGGCGTGTAGGC	0.627																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(163-165)cCt>cAt		RAS, dexamethasone-induced 1							142.0	122.0	129.0					17																	17399332		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17399332G>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.164C>A	17.37:g.17399332G>T	ENSP00000225688:p.Pro55His					RASD1_ENST00000579152.1_Missense_Mutation_p.P55H	p.P55H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			1	375	-			55					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.164C>A	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551387	0.45487	.	.	ENSG00000108551	ENST00000225688	D	0.82984	-1.67	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94295	0.7532	10	0.87932	D	0	.	16.8723	0.86043	0.0:0.0:1.0:0.0	.	55	Q9Y272	RASD1_HUMAN	H	55	ENSP00000225688:P55H	ENSP00000225688:P55H	P	-	2	0	RASD1	17340057	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	9.505000	0.97989	2.199000	0.70637	0.655000	0.94253	CCT		0.627	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		24	32	1	0	7.4402e-23	1	9.83099e-23	24	32				
KIAA1109	84162	broad.mit.edu	37	4	123161240	123161240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123161240C>T	ENST00000264501.4	+	29	4776	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A1468V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A1468V			Q2LD37	K1109_HUMAN	KIAA1109	1468					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTGTTTCTGCGTTAGGTGGA	0.423																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4402-4404)gCg>gTg		KIAA1109							100.0	95.0	97.0					4																	123161240		1870	4100	5970	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123161240C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4403C>T	4.37:g.123161240C>T	ENSP00000264501:p.Ala1468Val					KIAA1109_ENST00000455637.1_Missense_Mutation_p.A1468V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A1468V	p.A1468V			Q2LD37	K1109_HUMAN			29	4776	+			1468					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4403C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.902536|4.902536	0.92035|0.92035	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.42131|.	1.58;1.58;0.98|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.43416|.	U|.	0.000566|.	T|T	0.57577|0.57577	0.2063|0.2063	N|N	0.24115|0.24115	0.695|0.695	0.54753|0.54753	D|D	0.999985|0.999985	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.78314|.	0.991;0.98|.	T|T	0.48502|0.48502	-0.9030|-0.9030	10|5	0.87932|.	D|.	0|.	.|.	20.6013|20.6013	0.99457|0.99457	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1467;1468|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	V|C	1468|41	ENSP00000264501:A1468V;ENSP00000373390:A1468V;ENSP00000389925:A1468V|.	ENSP00000264501:A1468V|.	A|R	+|+	2|1	0|0	KIAA1109|KIAA1109	123380690|123380690	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.984000|0.984000	0.73092|0.73092	6.838000|6.838000	0.75359|0.75359	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.423	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	68	0	0	0	1	0	5	68				
GPM6A	2823	broad.mit.edu	37	4	176556060	176556060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:176556060G>A	ENST00000280187.7	-	8	878	c.833C>T	c.(832-834)aCa>aTa	p.T278I	GPM6A_ENST00000506894.1_Missense_Mutation_p.T267I|GPM6A_ENST00000393658.2_Missense_Mutation_p.T278I|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000515090.1_Missense_Mutation_p.T271I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	278					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATGCATTTATGTGTATGCATT	0.433																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(832-834)aCa>aTa		glycoprotein M6A							117.0	102.0	107.0					4																	176556060		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176556060G>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.833C>T	4.37:g.176556060G>A	ENSP00000280187:p.Thr278Ile					GPM6A_ENST00000506894.1_Missense_Mutation_p.T267I|GPM6A_ENST00000515090.1_Missense_Mutation_p.T271I|GPM6A_ENST00000393658.2_Missense_Mutation_p.T278I|GPM6A_ENST00000506219.1_5'UTR	p.T278I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	8	878	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	278					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.833C>T	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036823	0.93630	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090	D;D;D;D	0.99376	-5.76;-5.76;-5.79;-5.76	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	L	0.36672	1.1	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.987	D	0.99922	1.1261	10	0.87932	D	0	-14.1461	20.3626	0.98863	0.0:0.0:1.0:0.0	.	271;267;278	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	I	278;278;267;271	ENSP00000280187:T278I;ENSP00000377268:T278I;ENSP00000421578:T267I;ENSP00000423984:T271I	ENSP00000280187:T278I	T	-	2	0	GPM6A	176793054	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	ACA		0.433	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			6	52	0	0	0	1	0	6	52				
TRIM67	440730	broad.mit.edu	37	1	231344960	231344960	+	Missense_Mutation	SNP	G	G	A	rs546016137		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231344960G>A	ENST00000366653.5	+	8	2087	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	TRIM67_ENST00000366652.2_Missense_Mutation_p.R696H|TRIM67_ENST00000444294.3_Missense_Mutation_p.R694H|TRIM67_ENST00000449018.3_Missense_Mutation_p.R634H			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	696	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GACAACAACCGCAGCTGGTTC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19980	0.0		0.0	False		,,,				2504	0.0					ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2080-2082)cGc>cAc		tripartite motif containing 67							82.0	90.0	88.0					1																	231344960		2199	4300	6499	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231344960G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2087G>A	1.37:g.231344960G>A	ENSP00000355613:p.Arg696His					TRIM67_ENST00000366653.5_Missense_Mutation_p.R696H|TRIM67_ENST00000449018.3_Missense_Mutation_p.R634H|TRIM67_ENST00000366652.2_Missense_Mutation_p.R696H	p.R694H	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			8	2939	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	696			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.2081G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	36	5.632968	0.96682	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85886	0.1425	10	0.45353	T	0.12	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	696	Q6ZTA4	TRI67_HUMAN	H	694;696;634;696	ENSP00000412124:R694H;ENSP00000355612:R696H;ENSP00000400163:R634H;ENSP00000355613:R696H	ENSP00000355612:R696H	R	+	2	0	TRIM67	229411583	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.760000	0.98935	2.854000	0.98071	0.655000	0.94253	CGC		0.607	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		21	20	0	0	0	1	0	21	20				
GCC1	79571	broad.mit.edu	37	7	127225066	127225066	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127225066C>A	ENST00000321407.2	-	1	595	c.171G>T	c.(169-171)aaG>aaT	p.K57N	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	57					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGACAGCACCTTGATGCTGG	0.567																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(169-171)aaG>aaT		GRIP and coiled-coil domain containing 1							107.0	102.0	104.0					7																	127225066		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127225066C>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.171G>T	7.37:g.127225066C>A	ENSP00000318821:p.Lys57Asn					GCC1_ENST00000497650.1_Intron	p.K57N	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	595	-			57					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.171G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165179	0.38217	.	.	ENSG00000179562	ENST00000321407	T	0.16597	2.33	5.53	0.63	0.17693	.	0.105207	0.64402	D	0.000006	T	0.12817	0.0311	M	0.68952	2.095	0.45161	D	0.998178	P	0.41366	0.747	B	0.36418	0.224	T	0.09250	-1.0683	10	0.44086	T	0.13	-23.8394	1.2211	0.01924	0.1441:0.3964:0.14:0.3195	.	57	Q96CN9	GCC1_HUMAN	N	57	ENSP00000318821:K57N	ENSP00000318821:K57N	K	-	3	2	GCC1	127012302	0.736000	0.28164	0.996000	0.52242	0.590000	0.36582	-0.013000	0.12678	0.043000	0.15746	0.563000	0.77884	AAG		0.567	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		24	94	1	0	2.44723e-14	1	3.12147e-14	24	94				
KRAS	3845	broad.mit.edu	37	12	25398280	25398280	+	Silent	SNP	G	G	A	rs397517040		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25398280G>A	ENST00000256078.4	-	2	102	c.39C>T	c.(37-39)ggC>ggT	p.G13G	KRAS_ENST00000557334.1_Silent_p.G13G|KRAS_ENST00000556131.1_Silent_p.G13G|KRAS_ENST00000311936.3_Silent_p.G13G	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(22)|p.G13G(18)|p.G13V(6)|p.G13E(3)|p.G13_V14insG(2)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCTTGCCTACGCCACCAGCTC	0.343		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	53	Substitution - Missense(32)|Substitution - coding silent(18)|Insertion - In frame(2)|Complex - compound substitution(1)	p.G13D(22)|p.G13G(18)|p.G13V(6)|p.G13E(3)|p.G13_V14insG(2)|p.G13_V14>DI(1)|p.G13R(1)	large_intestine(30)|pancreas(5)|haematopoietic_and_lymphoid_tissue(4)|biliary_tract(3)|endometrium(3)|lung(2)|thyroid(1)|stomach(1)|soft_tissue(1)|small_intestine(1)|liver(1)|ovary(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(37-39)ggC>ggT		Kirsten rat sarcoma viral oncogene homolog							87.0	78.0	81.0					12																	25398280		2203	4300	6503	SO:0001819	synonymous_variant	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398280G>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.39C>T	12.37:g.25398280G>A		TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Silent_p.G13G|KRAS_ENST00000256078.4_Silent_p.G13G|KRAS_ENST00000556131.1_Silent_p.G13G	p.G13G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	230	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		13		G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).			A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	c.39C>T	CCDS8703.1																																																																																				0.343	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		4	21	0	0	0	1	0	4	21				
MIR181A1	406995	broad.mit.edu	37	1	198828060	198828060	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:198828060C>T	ENST00000385026.1	-	0	110				MIR181B1_ENST00000385240.1_RNA	NR_029626.1				microRNA 181a-1																		TTCAACCCACCGACAGCAATG	0.433																																						ENST00000385240.1																			0																				125.0	115.0	118.0					1																	198828060		1568	3582	5150			0							g.chr1:198828060C>T			1q32.1	2011-09-12	2006-05-16	2008-12-18	ENSG00000207759	ENSG00000207759		"""ncRNAs / Micro RNAs"""	31590	non-coding RNA	RNA, micro		612742	"""microRNA 213"""	MIRN213, MIRN181A1			Standard	NR_029626		Approved	hsa-mir-213	uc001guy.3				1.37:g.198828060C>T								NR_029612.1						0	51	-									RNA	SNP	ENST00000385026.1	37																																																																																						0.433	MIR181A1-201	KNOWN	basic	miRNA	miRNA		NR_029626		26	41	0	0	0	1	0	26	41				
ZNF860	344787	broad.mit.edu	37	3	32030987	32030987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030987A>G	ENST00000360311.4	+	2	965	c.416A>G	c.(415-417)gAc>gGc	p.D139G		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						GGTAGCACCGACAGATATGAT	0.393																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(415-417)gAc>gGc		zinc finger protein 860							61.0	46.0	51.0					3																	32030987		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030987A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.416A>G	3.37:g.32030987A>G	ENSP00000373274:p.Asp139Gly						p.D139G	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	965	+			139					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.416A>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	5.890	0.348265	0.11126	.	.	ENSG00000197385	ENST00000360311	T	0.05382	3.45	0.345	0.345	0.16011	.	.	.	.	.	T	0.07458	0.0188	N	0.11818	0.18	0.09310	N	1	D	0.57571	0.98	D	0.68192	0.956	T	0.35276	-0.9795	8	.	.	.	.	2.4277	0.04463	0.5392:1.0E-4:0.0:0.4607	.	139	A6NHJ4	ZN860_HUMAN	G	139	ENSP00000373274:D139G	.	D	+	2	0	ZNF860	32005991	0.410000	0.25376	0.003000	0.11579	0.003000	0.03518	-0.115000	0.10741	0.332000	0.23536	0.323000	0.21402	GAC		0.393	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			27	47	0	0	0	1	0	27	47				
CD5	921	broad.mit.edu	37	11	60889372	60889372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60889372C>T	ENST00000347785.3	+	6	1261	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	365	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGGTGTTTGTCACATGTGAGT	0.552																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1093-1095)gtC>gtT		CD5 molecule							43.0	42.0	42.0					11																	60889372		2203	4299	6502	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60889372C>T	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1095C>T	11.37:g.60889372C>T							p.V365V	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	6	1261	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	365			SRCR 3.		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.1095C>T	CCDS8000.1																																																																																				0.552	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		13	21	0	0	0	1	0	13	21				
MCMDC2	157777	broad.mit.edu	37	8	67803186	67803186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67803186A>G	ENST00000422365.2	+	10	1331	c.1160A>G	c.(1159-1161)aAg>aGg	p.K387R	MCMDC2_ENST00000313616.5_Missense_Mutation_p.K387R|MCMDC2_ENST00000396592.3_Missense_Mutation_p.K387R|MCMDC2_ENST00000541540.1_Missense_Mutation_p.K324R	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	387					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TCCAGGAATAAGTATGGAACT	0.408																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1159-1161)aAg>aGg		minichromosome maintenance domain containing 2							109.0	108.0	108.0					8																	67803186		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67803186A>G	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1160A>G	8.37:g.67803186A>G	ENSP00000413632:p.Lys387Arg					MCMDC2_ENST00000541540.1_Missense_Mutation_p.K324R|MCMDC2_ENST00000313616.5_Missense_Mutation_p.K387R|MCMDC2_ENST00000396592.3_Missense_Mutation_p.K387R	p.K387R	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			10	1331	+			387					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1160A>G	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216643	0.39201	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.84	4.84	0.62591	.	0.217824	0.46758	D	0.000280	T	0.38427	0.1040	L	0.47716	1.5	0.30323	N	0.787425	D;P;P	0.60575	0.988;0.956;0.915	P;P;B	0.58721	0.844;0.549;0.321	T	0.23976	-1.0173	10	0.19590	T	0.45	-9.7658	10.0391	0.42146	0.8496:0.0:0.0:0.1504	.	324;387;387	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	R	259;387;387;387;324	ENSP00000379837:K387R;ENSP00000413632:K387R;ENSP00000317234:K387R;ENSP00000445629:K324R	ENSP00000317234:K387R	K	+	2	0	C8orf45	67965740	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.914000	0.63348	1.940000	0.56252	0.482000	0.46254	AAG		0.408	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		7	92	0	0	0	1	0	7	92				
ABCA5	23461	broad.mit.edu	37	17	67246065	67246065	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67246065A>T	ENST00000392676.3	-	37	4810	c.4746T>A	c.(4744-4746)tcT>tcA	p.S1582S	ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1582					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GCTTAAAAAAAGATTGTGAAA	0.284																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(4744-4746)tcT>tcA		ATP-binding cassette, sub-family A (ABC1), member 5							30.0	32.0	31.0					17																	67246065		2199	4282	6481	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67246065A>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4746T>A	17.37:g.67246065A>T						ABCA5_ENST00000588877.1_Silent_p.S1582S|ABCA5_ENST00000392677.2_Silent_p.S1583S	p.S1582S			Q8WWZ7	ABCA5_HUMAN			37	4810	-	Breast(10;3.72e-11)		1582					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.4746T>A	CCDS11685.1																																																																																				0.284	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		4	34	0	0	0	1	0	4	34				
FIBCD1	84929	broad.mit.edu	37	9	133799639	133799639	+	Missense_Mutation	SNP	G	G	A	rs369242270	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133799639G>A	ENST00000372338.4	-	3	939	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	FIBCD1_ENST00000372337.2_Missense_Mutation_p.R75W|FIBCD1_ENST00000253018.4_Missense_Mutation_p.R75W|FIBCD1_ENST00000448616.1_Missense_Mutation_p.R233W	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	233						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCACAGCCCCGGGGCCGGGTT	0.731													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12337	0.0		0.0	False		,,,				2504	0.0					ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(697-699)Cgg>Tgg		fibrinogen C domain containing 1		G	TRP/ARG,TRP/ARG	2,4182		0,2,2090	6.0	8.0	7.0		697,697	4.3	1.0	9		7	0,8372		0,0,4186	no	missense,missense	FIBCD1	NM_001145106.1,NM_032843.4	101,101	0,2,6276	AA,AG,GG		0.0,0.0478,0.0159	probably-damaging,probably-damaging	233/462,233/462	133799639	2,12554	2092	4186	6278	SO:0001583	missense	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133799639G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.697C>T	9.37:g.133799639G>A	ENSP00000361413:p.Arg233Trp					FIBCD1_ENST00000253018.4_Missense_Mutation_p.R75W|FIBCD1_ENST00000372337.2_Missense_Mutation_p.R75W|FIBCD1_ENST00000448616.1_Missense_Mutation_p.R233W	p.R233W	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	3	939	-	all_hematologic(7;0.0028)		233					A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	c.697C>T	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.390371	0.82902	4.78E-4	0.0	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337;ENST00000253018;ENST00000451466	T;T;T;T;T	0.55052	0.54;0.54;0.57;1.09;1.11	5.25	4.32	0.51571	.	43.246900	0.00166	U	0.000008	T	0.64929	0.2643	L	0.32530	0.975	0.43444	D	0.995621	D	0.76494	0.999	P	0.61874	0.895	T	0.54125	-0.8340	10	0.72032	D	0.01	.	12.2826	0.54774	0.0:0.0:0.6982:0.3018	.	233	Q8N539	FBCD1_HUMAN	W	233;233;75;75;233	ENSP00000414501:R233W;ENSP00000361413:R233W;ENSP00000361412:R75W;ENSP00000253018:R75W;ENSP00000393894:R233W	ENSP00000253018:R75W	R	-	1	2	FIBCD1	132789460	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.590000	0.53979	2.444000	0.82710	0.457000	0.33378	CGG		0.731	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		3	4	0	0	0	1	0	3	4				
TTN	7273	broad.mit.edu	37	2	179427755	179427755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179427755G>A	ENST00000591111.1	-	276	78405	c.78181C>T	c.(78181-78183)Cga>Tga	p.R26061*	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R18637*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18762*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R25134*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R27702*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18829*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26061	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R18762*(1)|p.R25132*(1)|p.R18637*(1)|p.R18829*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTGGTCGACCTTTGATA	0.453																																						ENST00000589042.1																			4	Substitution - Nonsense(4)	p.R18762*(1)|p.R25132*(1)|p.R18637*(1)|p.R18829*(1)	large_intestine(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(83104-83106)Cga>Tga		titin							145.0	143.0	144.0					2																	179427755		1941	4129	6070	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427755G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78181C>T	2.37:g.179427755G>A	ENSP00000465570:p.Arg26061*					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R18637*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R25134*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18762*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18829*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R26061*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R27702*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	83328	-			26061			Fibronectin type-III 102.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.83104C>T		.	.	.	.	.	.	.	.	.	.	G	65	86.163190	0.99995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.04	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.7327	0.51746	0.0:0.0:0.4429:0.5571	.	.	.	.	X	25134;18637;18829;18762;18635	.	ENSP00000340554:R18829X	R	-	1	2	TTN	179136001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.655000	0.67981	1.491000	0.48482	0.561000	0.74099	CGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		69	85	0	0	0	1	0	69	85				
SLC30A5	64924	broad.mit.edu	37	5	68408995	68408995	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68408995C>A	ENST00000396591.3	+	6	1086	c.476C>A	c.(475-477)gCt>gAt	p.A159D	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	159					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCATTATTGCTGTGATCTGT	0.348																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(475-477)gCt>gAt		solute carrier family 30 (zinc transporter), member 5							150.0	137.0	142.0					5																	68408995		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68408995C>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.476C>A	5.37:g.68408995C>A	ENSP00000379836:p.Ala159Asp					CTC-498J12.3_ENST00000504129.1_RNA	p.A159D	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	6	1086	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	159					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.476C>A	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865075	0.91511	.	.	ENSG00000145740	ENST00000396591	T	0.71817	-0.6	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	L	0.53249	1.67	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	T	0.81514	-0.0898	10	0.87932	D	0	-8.1085	17.6417	0.88138	0.0:1.0:0.0:0.0	.	159	Q8TAD4	ZNT5_HUMAN	D	159	ENSP00000379836:A159D	ENSP00000379836:A159D	A	+	2	0	SLC30A5	68444751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.790000	0.62453	2.319000	0.78375	0.655000	0.94253	GCT		0.348	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			11	39	1	0	1.08611e-07	1	1.2824e-07	11	39				
CLCNKB	1188	broad.mit.edu	37	1	16376349	16376349	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16376349T>C	ENST00000375679.4	+	10	1017	c.906T>C	c.(904-906)tgT>tgC	p.C302C	CLCNKB_ENST00000375667.3_Silent_p.C133C	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	302					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCTTCTGTCAGCGAATCT	0.612																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(904-906)tgT>tgC		chloride channel, voltage-sensitive Kb							189.0	174.0	180.0					1																	16376349		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16376349T>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.906T>C	1.37:g.16376349T>C						CLCNKB_ENST00000375667.3_Silent_p.C133C	p.C302C	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	10	1017	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.906T>C	CCDS168.1																																																																																				0.612	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		55	89	0	0	0	1	0	55	89				
ZBED8	63920	broad.mit.edu	37	5	159822439	159822439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159822439G>A	ENST00000408953.3	-	2	566	c.59C>T	c.(58-60)aCg>aTg	p.T20M	C5orf54_ENST00000523213.1_Missense_Mutation_p.T20M	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						atctacttccgttgtacaggt	0.433																																						ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(58-60)aCg>aTg		chromosome 5 open reading frame 54							150.0	136.0	141.0					5																	159822439		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159822439G>A																												ENST00000408953.3:c.59C>T	5.37:g.159822439G>A	ENSP00000386184:p.Thr20Met					C5orf54_ENST00000523213.1_Missense_Mutation_p.T20M	p.T20M	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	566	-			20						Missense_Mutation	SNP	ENST00000408953.3	37	c.59C>T	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520258	0.27211	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.14640	2.49;2.49	3.57	2.68	0.31781	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	D	0.53745	0.962	P	0.44518	0.452	T	0.21109	-1.0255	9	0.33141	T	0.24	.	6.1497	0.20304	0.14:0.0:0.86:0.0	.	20	Q8IZ13	CE054_HUMAN	M	20	ENSP00000386184:T20M;ENSP00000428831:T20M	ENSP00000386184:T20M	T	-	2	0	C5orf54	159755017	0.007000	0.16637	0.064000	0.19789	0.993000	0.82548	1.216000	0.32443	1.065000	0.40693	0.650000	0.86243	ACG		0.433	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			7	117	0	0	0	1	0	7	117				
ATAD1	84896	broad.mit.edu	37	10	89544250	89544250	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89544250G>A	ENST00000308448.7	-	5	938	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ATAD1_ENST00000328142.3_Missense_Mutation_p.S187F|ATAD1_ENST00000541004.1_Missense_Mutation_p.S187F|ATAD1_ENST00000400215.3_Missense_Mutation_p.S129F|ATAD1_ENST00000495903.1_5'Flank	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	187					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		AAAGATGATGGATGGTTGTAG	0.348																																						ENST00000308448.7																			0				kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10						c.(559-561)tCc>tTc		ATPase family, AAA domain containing 1							107.0	100.0	103.0					10																	89544250		2203	4300	6503	SO:0001583	missense	84896					peroxisome	ATP binding|nucleoside-triphosphatase activity	g.chr10:89544250G>A	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.560C>T	10.37:g.89544250G>A	ENSP00000339017:p.Ser187Phe					ATAD1_ENST00000400215.3_Missense_Mutation_p.S129F|ATAD1_ENST00000541004.1_Missense_Mutation_p.S187F|ATAD1_ENST00000328142.3_Missense_Mutation_p.S187F	p.S187F	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	5	938	-		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)	187					D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	c.560C>T	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935384	0.73442	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.13	5.13	0.70059	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.049018	0.85682	D	0.000000	D	0.96116	0.8734	M	0.79693	2.465	0.80722	D	1	P;P	0.48834	0.916;0.854	P;P	0.56865	0.808;0.637	D	0.95726	0.8770	9	.	.	.	-10.0377	18.9528	0.92646	0.0:0.0:1.0:0.0	.	129;187	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	F	187;187;129;187	ENSP00000339017:S187F;ENSP00000339016:S187F;ENSP00000412968:S129F;ENSP00000445500:S187F	.	S	-	2	0	ATAD1	89534230	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.551000	0.82182	2.544000	0.85801	0.563000	0.77884	TCC		0.348	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		39	58	0	0	0	1	0	39	58				
SLC25A13	10165	broad.mit.edu	37	7	95775888	95775888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775888C>T	ENST00000265631.5	-	14	1568	c.1432G>A	c.(1432-1434)Ggg>Agg	p.G478R	SLC25A13_ENST00000542654.1_Missense_Mutation_p.G370R|SLC25A13_ENST00000416240.2_Missense_Mutation_p.G479R			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	478					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCAAAAAACCCCAGGTCCCGC	0.393																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1435-1437)Ggg>Agg		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						106.0	124.0	118.0					7																	95775888		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775888C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1432G>A	7.37:g.95775888C>T	ENSP00000265631:p.Gly478Arg					SLC25A13_ENST00000265631.5_Missense_Mutation_p.G478R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G370R	p.G479R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1625	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		478					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1435G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092149	0.94149	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.95272	-3.66;-3.66;-3.66	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99628	1.0985	10	0.87932	D	0	-12.0081	18.0706	0.89405	0.0:1.0:0.0:0.0	.	370;479;478	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	R	478;479;370	ENSP00000265631:G478R;ENSP00000400101:G479R;ENSP00000440484:G370R	ENSP00000265631:G478R	G	-	1	0	SLC25A13	95613824	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.651000	0.83577	2.575000	0.86900	0.655000	0.94253	GGG		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		8	207	0	0	0	1	0	8	207				
CHSY3	337876	broad.mit.edu	37	5	129520135	129520135	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129520135C>T	ENST00000305031.4	+	3	1658	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	434					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATGAGCAAGCTCAGTAACAC	0.488																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1300-1302)Ctc>Ttc		chondroitin sulfate synthase 3							73.0	67.0	69.0					5																	129520135		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520135C>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1300C>T	5.37:g.129520135C>T	ENSP00000302629:p.Leu434Phe					CHSY3_ENST00000507545.1_3'UTR	p.L434F	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1658	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	434					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1300C>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098504	0.76870	.	.	ENSG00000198108	ENST00000305031	T	0.16897	2.31	4.5	4.5	0.54988	.	0.000000	0.51477	D	0.000084	T	0.36908	0.0984	M	0.69823	2.125	0.53688	D	0.99997	D	0.55172	0.97	P	0.56788	0.806	T	0.06625	-1.0816	9	.	.	.	-2.5329	18.5119	0.90920	0.0:1.0:0.0:0.0	.	434	Q70JA7	CHSS3_HUMAN	F	434	ENSP00000302629:L434F	.	L	+	1	0	CHSY3	129548034	0.999000	0.42202	1.000000	0.80357	0.918000	0.54935	2.770000	0.47662	2.779000	0.95612	0.650000	0.86243	CTC		0.488	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		9	40	0	0	0	1	0	9	40				
PKD1L1	168507	broad.mit.edu	37	7	47983008	47983008	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47983008C>A	ENST00000289672.2	-	2	195	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	49					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACAATCCACCTCCAGGAGGG	0.537																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(145-147)Ggt>Tgt		polycystic kidney disease 1 like 1							103.0	95.0	98.0					7																	47983008		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47983008C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.145G>T	7.37:g.47983008C>A	ENSP00000289672:p.Gly49Cys						p.G49C	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			2	195	-			49					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.145G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363771	0.24684	.	.	ENSG00000158683	ENST00000289672	T	0.27557	1.66	1.93	-0.915	0.10494	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	D	0.53745	0.962	P	0.45071	0.468	T	0.11717	-1.0576	9	0.87932	D	0	.	2.5638	0.04778	0.0:0.4113:0.2801:0.3086	.	49	Q8TDX9	PK1L1_HUMAN	C	49	ENSP00000289672:G49C	ENSP00000289672:G49C	G	-	1	0	PKD1L1	47949533	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.643000	0.05421	-0.256000	0.09473	0.558000	0.71614	GGT		0.537	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	67	1	0	0.150653	1	0.152692	4	67				
PLXNA4	91584	broad.mit.edu	37	7	131859595	131859595	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131859595T>C	ENST00000359827.3	-	21	4921	c.3959A>G	c.(3958-3960)tAc>tGc	p.Y1320C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y1320C			Q9HCM2	PLXA4_HUMAN	plexin A4	1320					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCATGGTGTAAGTTCTATA	0.577																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3958-3960)tAc>tGc		plexin A4							115.0	124.0	121.0					7																	131859595		2150	4283	6433	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131859595T>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3959A>G	7.37:g.131859595T>C	ENSP00000352882:p.Tyr1320Cys					PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y1320C	p.Y1320C			Q9HCM2	PLXA4_HUMAN			21	4921	-			1320					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3959A>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273687	0.59649	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.19250	2.16;2.16	5.59	5.59	0.84812	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63646	-0.6590	10	0.87932	D	0	.	15.7678	0.78141	0.0:0.0:0.0:1.0	.	1320	Q9HCM2	PLXA4_HUMAN	C	1320	ENSP00000323194:Y1320C;ENSP00000352882:Y1320C	ENSP00000323194:Y1320C	Y	-	2	0	PLXNA4	131510135	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	8.013000	0.88655	2.135000	0.66039	0.533000	0.62120	TAC		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		37	122	0	0	0	1	0	37	122				
NEU3	10825	broad.mit.edu	37	11	74717250	74717250	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74717250C>T	ENST00000544263.1	+	4	1170	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S	NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Missense_Mutation_p.P367S|NEU3_ENST00000545272.1_Missense_Mutation_p.P258S|NEU3_ENST00000294064.4_Missense_Mutation_p.P367S|NEU3_ENST00000529024.1_Intron			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	334					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTACTCACACCCAACCAGTAG	0.567																																						ENST00000294064.4																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1099-1101)Cca>Tca		sialidase 3 (membrane sialidase)							70.0	80.0	77.0					11																	74717250		2107	4239	6346	SO:0001583	missense	10825							g.chr11:74717250C>T	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.1000C>T	11.37:g.74717250C>T	ENSP00000445591:p.Pro334Ser					NEU3_ENST00000544263.1_Missense_Mutation_p.P334S|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Missense_Mutation_p.P367S|NEU3_ENST00000545272.1_Missense_Mutation_p.P258S|NEU3_ENST00000529024.1_Intron	p.P367S	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN			3	2026	+			367					A8K327|Q9NQE1	Missense_Mutation	SNP	ENST00000544263.1	37	c.1099C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.222242	0.79464	.	.	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.21	5.21	0.72293	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.93697	0.7986	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.94189	0.7439	10	0.54805	T	0.06	-12.9094	16.2976	0.82783	0.0:1.0:0.0:0.0	.	334;367	Q9UQ49;A8K327	NEUR3_HUMAN;.	S	367;367;334;258	ENSP00000294064:P367S;ENSP00000432097:P367S;ENSP00000445591:P334S;ENSP00000439908:P258S	ENSP00000294064:P367S	P	+	1	0	NEU3	74394898	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.879000	0.69690	2.716000	0.92895	0.491000	0.48974	CCA		0.567	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		8	46	0	0	0	1	0	8	46				
RHPN1	114822	broad.mit.edu	37	8	144459625	144459625	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144459625G>T	ENST00000289013.6	+	4	482	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	127	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCGCTGAAGGTAGGTACTG	0.582																																						ENST00000289013.6																			0				endometrium(1)|large_intestine(1)|lung(7)	9						c.e4+1		rhophilin, Rho GTPase binding protein 1							77.0	80.0	79.0					8																	144459625		2008	4176	6184	SO:0001630	splice_region_variant	114822				signal transduction	intracellular		g.chr8:144459625G>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.381+1G>T	8.37:g.144459625G>T							p.K127_splice	NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		4	482	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		127			BRO1.		Q8TAV1|Q96PV9	Splice_Site	SNP	ENST00000289013.6	37	c.381_splice	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889891	0.52014	.	.	ENSG00000158106	ENST00000289013	T	0.18810	2.19	4.22	4.22	0.49857	.	0.316966	0.34386	N	0.004010	T	0.26231	0.0640	M	0.62016	1.91	0.58432	D	0.999994	P	0.43352	0.804	P	0.44897	0.463	T	0.03750	-1.1007	10	0.87932	D	0	-29.9128	9.0868	0.36586	0.1047:0.0:0.8953:0.0	.	127	Q8TCX5-2	.	N	127	ENSP00000289013:K127N	ENSP00000289013:K127N	K	+	3	2	RHPN1	144530768	1.000000	0.71417	0.990000	0.47175	0.229000	0.25112	5.352000	0.66028	1.882000	0.54519	0.313000	0.20887	AAG		0.582	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1		Missense_Mutation	5	28	1	0	0.00116845	1	0.00124821	5	28				
CKMT2	1160	broad.mit.edu	37	5	80559355	80559355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80559355C>T	ENST00000424301.2	+	10	1298	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.R354C|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.R354C|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	354	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTCCAGAAGCGTGGCACAGG	0.453																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(1060-1062)Cgt>Tgt		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						114.0	109.0	111.0					5																	80559355		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80559355C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1060C>T	5.37:g.80559355C>T	ENSP00000404203:p.Arg354Cys					CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.R354C|CKMT2_ENST00000437669.1_Missense_Mutation_p.R354C|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA	p.R354C	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	10	1298	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	354			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.1060C>T	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411195	0.83340	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.26223	1.75;1.75;1.75	5.76	5.76	0.90799	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82259	-0.0546	10	0.87932	D	0	.	14.7656	0.69637	0.1445:0.8555:0.0:0.0	.	354	P17540	KCRS_HUMAN	C	354	ENSP00000254035:R354C;ENSP00000410289:R354C;ENSP00000404203:R354C	ENSP00000254035:R354C	R	+	1	0	CKMT2	80595111	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.177000	0.50871	2.726000	0.93360	0.655000	0.94253	CGT		0.453	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		34	55	0	0	0	1	0	34	55				
TTN	7273	broad.mit.edu	37	2	179621439	179621439	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179621439C>A	ENST00000591111.1	-	44	10528				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K3588N|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K3417N|TTN_ENST00000360870.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTCCTCCTTTGTGAAAG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10762-10764)aaG>aaT		titin							80.0	78.0	79.0					2																	179621439		1890	4111	6001	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621439C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2271G>T	2.37:g.179621439C>A						TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.K3417N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	p.K3588N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10988	-			3274					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10764G>T		.	.	.	.	.	.	.	.	.	.	C	6.754	0.508031	0.12883	.	.	ENSG00000155657	ENST00000342175	T	0.60797	0.16	4.97	-3.48	0.04739	.	.	.	.	.	T	0.46964	0.1420	.	.	.	0.09310	N	0.99999	B	0.17667	0.023	B	0.20384	0.029	T	0.47381	-0.9122	8	0.87932	D	0	.	12.4113	0.55469	0.0:0.4853:0.0:0.5147	.	3417	E7ET18	.	N	3417	ENSP00000340554:K3417N	ENSP00000340554:K3417N	K	-	3	2	TTN	179329684	0.850000	0.29656	0.003000	0.11579	0.544000	0.35116	0.101000	0.15251	-0.634000	0.05538	-0.140000	0.14226	AAG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	48	1	0	0.00448238	1	0.00472561	9	48				
GCC1	79571	broad.mit.edu	37	7	127224742	127224742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127224742C>T	ENST00000321407.2	-	1	919	c.495G>A	c.(493-495)ttG>ttA	p.L165L	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	165					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAAAGTAGCCAACTGAGTCT	0.522																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(493-495)ttG>ttA		GRIP and coiled-coil domain containing 1							107.0	111.0	109.0					7																	127224742		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224742C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.495G>A	7.37:g.127224742C>T						GCC1_ENST00000497650.1_Intron	p.L165L	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	919	-			165					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.495G>A	CCDS5796.1																																																																																				0.522	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		30	78	0	0	0	1	0	30	78				
APOL2	23780	broad.mit.edu	37	22	36624289	36624289	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36624289G>T	ENST00000249066.6	-	6	651	c.175C>A	c.(175-177)Ctt>Att	p.L59I	APOL2_ENST00000358502.5_Missense_Mutation_p.L59I|APOL2_ENST00000451256.2_Missense_Mutation_p.L171I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	59					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TGACTTGCAAGCTTGTTCAGA	0.458																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(175-177)Ctt>Att		apolipoprotein L, 2							130.0	139.0	136.0					22																	36624289		2167	4284	6451	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624289G>T	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.175C>A	22.37:g.36624289G>T	ENSP00000249066:p.Leu59Ile					APOL2_ENST00000358502.5_Missense_Mutation_p.L59I|APOL2_ENST00000451256.2_Missense_Mutation_p.L171I	p.L59I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	651	-			59					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.175C>A	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675564	0.29783	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256;ENST00000529194;ENST00000454728	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	3.96	-3.04	0.05412	.	1.370490	0.04722	N	0.419554	T	0.08492	0.0211	L	0.61036	1.89	0.09310	N	1	P;P	0.42735	0.788;0.747	P;P	0.44394	0.448;0.448	T	0.28776	-1.0033	10	0.44086	T	0.13	.	0.4877	0.00559	0.2202:0.1548:0.3101:0.3149	.	171;59	B4E1T5;Q9BQE5	.;APOL2_HUMAN	I	59;59;171;59;59	ENSP00000351292:L59I;ENSP00000249066:L59I;ENSP00000403153:L171I;ENSP00000431231:L59I;ENSP00000400486:L59I	ENSP00000249066:L59I	L	-	1	0	APOL2	34954235	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.173000	0.09854	-0.338000	0.08413	0.411000	0.27672	CTT		0.458	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		5	156	1	0	0.014758	1	0.0152625	5	156				
CSMD1	64478	broad.mit.edu	37	8	2967741	2967741	+	Nonsense_Mutation	SNP	C	C	A	rs371824064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2967741C>A	ENST00000520002.1	-	44	7105	c.6550G>T	c.(6550-6552)Gga>Tga	p.G2184*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2184*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2184	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAAACTCCGTGCCCTGGA	0.473																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(6550-6552)Gga>Tga		CUB and Sushi multiple domains 1							97.0	97.0	97.0					8																	2967741		1970	4150	6120	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:2967741C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6550G>T	8.37:g.2967741C>A	ENSP00000430733:p.Gly2184*					CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G2184*	p.G2184*			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	44	7105	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2184			CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.6550G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.914505|14.914505	0.99815|0.99815	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74951	.|0.3784	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73610	.|-0.3928	.|4	0.45353|.	T|.	0.12|.	.|.	19.0895|19.0895	0.93221|0.93221	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2184;2184;2045;2183;2183|1663	.|.	ENSP00000320445:G2045X|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2955148|2955148	1.000000|1.000000	0.71417|0.71417	0.318000|0.318000	0.25279|0.25279	0.718000|0.718000	0.41266|0.41266	7.426000|7.426000	0.80270|0.80270	2.577000|2.577000	0.86979|0.86979	0.453000|0.453000	0.30009|0.30009	GGA|CGG		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	10	1	0	0.014758	1	0.0152625	5	10				
ZNF649	65251	broad.mit.edu	37	19	52394115	52394115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394115G>A	ENST00000354957.3	-	5	1558	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	ZNF649_ENST00000600738.1_Missense_Mutation_p.T397M|ZNF577_ENST00000420592.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000412216.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTCTCTCCCGTGTGAGTTCT	0.433																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1273-1275)aCg>aTg		zinc finger protein 649							158.0	157.0	157.0					19																	52394115		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394115G>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1274C>T	19.37:g.52394115G>A	ENSP00000347043:p.Thr425Met					ZNF649_ENST00000600738.1_Missense_Mutation_p.T397M|CTC-429C10.2_ENST00000600329.1_RNA	p.T425M	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1558	-		all_neural(266;0.0602)	425					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1274C>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901511	0.52227	.	.	ENSG00000198093	ENST00000354957	T	0.26373	1.74	2.63	2.63	0.31362	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49609	0.1567	M	0.77820	2.39	0.30790	N	0.741042	D	0.89917	1.0	D	0.74674	0.984	T	0.54873	-0.8228	9	0.72032	D	0.01	.	12.0354	0.53423	0.0:0.0:1.0:0.0	.	425	Q9BS31	ZN649_HUMAN	M	425	ENSP00000347043:T425M	ENSP00000347043:T425M	T	-	2	0	ZNF649	57085927	0.488000	0.25996	0.797000	0.32132	0.513000	0.34164	0.627000	0.24506	1.309000	0.44985	0.404000	0.27445	ACG		0.433	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		88	135	0	0	0	1	0	88	135				
SULT1B1	27284	broad.mit.edu	37	4	70599226	70599226	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70599226C>A	ENST00000310613.3	-	6	800		c.e6-1			NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCATAGGCCACTAAAACCAGA	0.289																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e6-1		sulfotransferase family, cytosolic, 1B, member 1							107.0	114.0	112.0					4																	70599226		2202	4300	6502	SO:0001630	splice_region_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70599226C>A	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.503-1G>T	4.37:g.70599226C>A								NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			6	800	-								O15497|Q96FI1|Q9UK34	Splice_Site	SNP	ENST00000310613.3	37		CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952564	0.34471	.	.	ENSG00000173597	ENST00000310613	.	.	.	4.64	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0477	0.47867	0.0:0.9064:0.0:0.0936	.	.	.	.	.	-1	.	.	.	-	.	.	SULT1B1	70633815	1.000000	0.71417	0.992000	0.48379	0.414000	0.31173	6.690000	0.74567	1.092000	0.41356	0.313000	0.20887	.		0.289	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	Intron	35	58	1	0	4.65686e-17	1	6.02554e-17	35	58				
FREM1	158326	broad.mit.edu	37	9	14747275	14747275	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14747275T>C	ENST00000380880.3	-	33	6779	c.5996A>G	c.(5995-5997)cAc>cGc	p.H1999R	FREM1_ENST00000422223.2_Missense_Mutation_p.H1999R|FREM1_ENST00000380881.4_Missense_Mutation_p.H2000R|FREM1_ENST00000380894.1_Missense_Mutation_p.H535R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1999					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGGAAGTGTGAGTCAGT	0.418																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5998-6000)cAc>cGc		FRAS1 related extracellular matrix 1							246.0	230.0	235.0					9																	14747275		1932	4143	6075	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14747275T>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5996A>G	9.37:g.14747275T>C	ENSP00000370262:p.His1999Arg					FREM1_ENST00000422223.2_Missense_Mutation_p.H1999R|FREM1_ENST00000380880.3_Missense_Mutation_p.H1999R|FREM1_ENST00000380894.1_Missense_Mutation_p.H535R	p.H2000R			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	34	6814	-			1999					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.5999A>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615094	0.28712	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.12774	2.91;2.91;2.65;2.91	5.76	4.63	0.57726	.	0.649974	0.16916	N	0.194282	T	0.12178	0.0296	L	0.46157	1.445	0.31311	N	0.687175	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.09574	-1.0668	10	0.30854	T	0.27	-4.6213	7.0357	0.24993	0.0:0.181:0.0:0.819	.	1999;535	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	R	2000;1999;535;1999	ENSP00000370263:H2000R;ENSP00000412940:H1999R;ENSP00000370278:H535R;ENSP00000370262:H1999R	ENSP00000370262:H1999R	H	-	2	0	FREM1	14737275	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.856000	0.39389	1.014000	0.39417	-0.250000	0.11733	CAC		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		15	161	0	0	0	1	0	15	161				
LANCL3	347404	broad.mit.edu	37	X	37515055	37515055	+	Missense_Mutation	SNP	G	G	A	rs368249813		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37515055G>A	ENST00000378619.3	+	2	907	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Missense_Mutation_p.E230K	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	230							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						CTATGGAACCGAATACTTGGG	0.418																																						ENST00000378621.3																			0				lung(4)|pancreas(1)	5						c.(688-690)Gaa>Aaa		LanC lantibiotic synthetase component C-like 3 (bacterial)		G	LYS/GLU,LYS/GLU	0,3833		0,0,1631,571	109.0	90.0	96.0		688,688	5.3	1.0	X		96	1,6727		0,1,2427,1872	no	missense,missense	LANCL3	NM_001170331.1,NM_198511.2	56,56	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	230/421,230/389	37515055	1,10560	2202	4300	6502	SO:0001583	missense	347404						catalytic activity	g.chrX:37515055G>A	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.688G>A	X.37:g.37515055G>A	ENSP00000367882:p.Glu230Lys					LANCL3_ENST00000378619.3_Missense_Mutation_p.E230K|TM4SF2_ENST00000465127.1_Intron	p.E230K	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN			2	990	+			230					A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	c.688G>A	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550850	0.65311	0.0	1.49E-4	ENSG00000147036	ENST00000378621;ENST00000378619	T;T	0.43688	0.94;0.94	5.32	5.32	0.75619	Six-hairpin glycosidase-like (1);	0.117611	0.56097	D	0.000036	T	0.34861	0.0912	L	0.51422	1.61	0.80722	D	1	P;P	0.50272	0.843;0.933	B;B	0.38264	0.269;0.245	T	0.26538	-1.0100	10	0.07990	T	0.79	-12.9766	18.103	0.89512	0.0:0.0:1.0:0.0	.	230;230	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	K	230	ENSP00000367885:E230K;ENSP00000367882:E230K	ENSP00000367882:E230K	E	+	1	0	LANCL3	37399974	1.000000	0.71417	0.952000	0.39060	0.974000	0.67602	8.226000	0.89785	2.467000	0.83353	0.594000	0.82650	GAA		0.418	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		22	35	0	0	0	1	0	22	35				
DUSP13	51207	broad.mit.edu	37	10	76854614	76854614	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76854614G>T	ENST00000472493.2	-	4	495	c.417C>A	c.(415-417)gcC>gcA	p.A139A	DUSP13_ENST00000464872.1_Silent_p.A88A|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000605915.1_Silent_p.A161A|DUSP13_ENST00000491677.2_Silent_p.A268A|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Silent_p.A189A|DUSP13_ENST00000478873.2_Silent_p.A275A|DUSP13_ENST00000607131.1_Silent_p.A232A	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	139	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTACCCCCATGGCACAGTGTA	0.592																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(802-804)gcC>gcA		dual specificity phosphatase 13							101.0	72.0	82.0					10																	76854614		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854614G>T	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.417C>A	10.37:g.76854614G>T						DUSP13_ENST00000605915.1_Silent_p.A161A|DUSP13_ENST00000464872.1_Silent_p.A88A|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Silent_p.A189A|DUSP13_ENST00000478873.2_Silent_p.A275A|DUSP13_ENST00000472493.2_Silent_p.A139A|DUSP13_ENST00000607131.1_Silent_p.A232A	p.A268A	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1346	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		130					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Silent	SNP	ENST00000472493.2	37	c.804C>A	CCDS7346.1																																																																																				0.592	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			4	20	1	0	2.56e-06	1	2.9446e-06	4	20				
MST1R	4486	broad.mit.edu	37	3	49935547	49935547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49935547G>A	ENST00000296474.3	-	5	1844	c.1817C>T	c.(1816-1818)aCc>aTc	p.T606I	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.T606I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	606	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACCTGATGGGTTCCCTCAGG	0.592																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(1816-1818)aCc>aTc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							90.0	82.0	84.0					3																	49935547		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49935547G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1817C>T	3.37:g.49935547G>A	ENSP00000296474:p.Thr606Ile					MST1R_ENST00000344206.4_Missense_Mutation_p.T606I	p.T606I	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	5	1844	-			606			IPT/TIG 1.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1817C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503923	0.44558	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.76316	-1.01;-1.01	5.65	3.79	0.43588	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.305831	0.38959	N	0.001519	D	0.84973	0.5591	M	0.71581	2.175	0.25225	N	0.989875	D;D;P;D	0.58970	0.958;0.977;0.951;0.984	P;D;D;P	0.64042	0.571;0.921;0.921;0.899	T	0.77795	-0.2454	10	0.72032	D	0.01	-16.6539	12.4655	0.55755	0.0:0.0:0.6977:0.3023	.	500;606;606;606	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	I	606	ENSP00000296474:T606I;ENSP00000341325:T606I	ENSP00000296474:T606I	T	-	2	0	MST1R	49910551	0.985000	0.35326	0.601000	0.28877	0.774000	0.43823	2.600000	0.46240	1.383000	0.46405	0.561000	0.74099	ACC		0.592	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			26	44	0	0	0	1	0	26	44				
ZMYM2	7750	broad.mit.edu	37	13	20577209	20577209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20577209C>A	ENST00000382874.2	+	5	1257	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	ZMYM2_ENST00000382869.3_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382871.2_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382883.3_5'Flank|ZMYM2_ENST00000382881.3_Missense_Mutation_p.S269Y	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCTTTTGTTCTACCACCTGC	0.398																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1066-1068)tCt>tAt		zinc finger, MYM-type 2							81.0	78.0	79.0					13																	20577209		2203	4300	6503	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20577209C>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1067C>A	13.37:g.20577209C>A	ENSP00000372327:p.Ser356Tyr					ZMYM2_ENST00000382871.2_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382874.2_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382881.3_Missense_Mutation_p.S269Y	p.S356Y	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	1318	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	356					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.1067C>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503894	0.85176	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.79	4.79	0.61399	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.989	T	0.78748	-0.2083	10	0.87932	D	0	11.8924	17.8387	0.88709	0.0:1.0:0.0:0.0	.	356;356;269	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	Y	356;356;269;356;356	ENSP00000372322:S356Y;ENSP00000372334:S269Y;ENSP00000372327:S356Y;ENSP00000372324:S356Y	ENSP00000372322:S356Y	S	+	2	0	ZMYM2	19475209	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.478000	0.81082	2.216000	0.71823	0.563000	0.77884	TCT		0.398	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		11	17	1	0	0.000673444	1	0.000724755	11	17				
IMPAD1	54928	broad.mit.edu	37	8	57876370	57876370	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:57876370T>G	ENST00000262644.4	-	5	1320	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	354					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTCCTGTCTTTTCTAGATCTG	0.458																																						ENST00000262644.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(1060-1062)gaA>gaC		inositol monophosphatase domain containing 1							124.0	115.0	118.0					8																	57876370		2203	4300	6503	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57876370T>G		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.1062A>C	8.37:g.57876370T>G	ENSP00000262644:p.Glu354Asp						p.E354D	NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN			5	1320	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	354					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.1062A>C	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.682147	0.29872	.	.	ENSG00000104331	ENST00000262644	D	0.82893	-1.66	5.43	1.15	0.20763	.	0.244102	0.43260	D	0.000582	T	0.61248	0.2332	N	0.13043	0.29	0.31383	N	0.678793	B	0.06786	0.001	B	0.09377	0.004	T	0.49041	-0.8980	10	0.12766	T	0.61	-12.4997	4.5787	0.12248	0.0:0.2152:0.1811:0.6037	.	354	Q9NX62	IMPA3_HUMAN	D	354	ENSP00000262644:E354D	ENSP00000262644:E354D	E	-	3	2	IMPAD1	58038924	0.951000	0.32395	0.999000	0.59377	0.866000	0.49608	0.008000	0.13197	0.505000	0.28104	0.477000	0.44152	GAA		0.458	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		32	47	0	0	0	1	0	32	47				
NEDD4	4734	broad.mit.edu	37	15	56134236	56134236	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56134236A>G	ENST00000508342.1	-	15	3290	c.2991T>C	c.(2989-2991)gaT>gaC	p.D997D	NEDD4_ENST00000338963.2_Silent_p.D925D|NEDD4_ENST00000435532.3_Silent_p.D578D|NEDD4_ENST00000506154.1_Silent_p.D981D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	997	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTTTTCACCATCAAACTCAA	0.428																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2989-2991)gaT>gaC		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							124.0	121.0	122.0					15																	56134236		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56134236A>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2991T>C	15.37:g.56134236A>G						NEDD4_ENST00000435532.3_Silent_p.D578D|NEDD4_ENST00000506154.1_Silent_p.D981D|NEDD4_ENST00000338963.2_Silent_p.D925D	p.D997D			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	15	3290	-			997			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.2991T>C		.	.	.	.	.	.	.	.	.	.	A	9.893	1.204807	0.22205	.	.	ENSG00000069869	ENST00000508871	.	.	.	6.17	2.63	0.31362	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49031	-0.8981	4	.	.	.	.	8.5301	0.33329	0.7714:0.0:0.2286:0.0	.	.	.	.	T	588	.	.	M	-	2	0	NEDD4	53921528	0.556000	0.26538	0.996000	0.52242	0.998000	0.95712	-0.081000	0.11321	0.211000	0.20683	0.533000	0.62120	ATG		0.428	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		35	60	0	0	0	1	0	35	60				
ALPK2	115701	broad.mit.edu	37	18	56205160	56205160	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56205160T>C	ENST00000361673.3	-	5	2472	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	753						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAACACACCTGGGGACATAG	0.493																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2257-2259)ccA>ccG		alpha-kinase 2							224.0	212.0	216.0					18																	56205160		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56205160T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2259A>G	18.37:g.56205160T>C						RP11-1151B14.4_ENST00000591360.1_RNA	p.P753P	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	2472	-			753					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.2259A>G	CCDS11966.2																																																																																				0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		19	170	0	0	0	1	0	19	170				
IPMK	253430	broad.mit.edu	37	10	59986875	59986875	+	Missense_Mutation	SNP	C	C	T	rs544833606		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:59986875C>T	ENST00000373935.3	-	3	624	c.302G>A	c.(301-303)gGt>gAt	p.G101D		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	101					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGAAGAACACCATCAAAACA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16926	0.0		0.0	False		,,,				2504	0.0					ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(301-303)gGt>gAt		inositol polyphosphate multikinase							95.0	94.0	95.0					10																	59986875		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59986875C>T	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.302G>A	10.37:g.59986875C>T	ENSP00000363046:p.Gly101Asp						p.G101D	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			3	624	-			101						Missense_Mutation	SNP	ENST00000373935.3	37	c.302G>A	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	C	9.432	1.085706	0.20390	.	.	ENSG00000151151	ENST00000373935	T	0.17370	2.28	5.88	1.94	0.25998	.	0.428563	0.28748	N	0.014280	T	0.07324	0.0185	N	0.11201	0.11	0.26044	N	0.98157	B	0.02656	0.0	B	0.04013	0.001	T	0.37549	-0.9701	9	.	.	.	0.0044	6.5991	0.22691	0.0:0.6413:0.1344:0.2243	.	101	Q8NFU5	IPMK_HUMAN	D	101	ENSP00000363046:G101D	.	G	-	2	0	IPMK	59656881	0.500000	0.26091	0.976000	0.42696	0.992000	0.81027	0.343000	0.19944	0.101000	0.17610	0.650000	0.86243	GGT		0.358	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		17	42	0	0	0	1	0	17	42				
SLC34A1	6569	broad.mit.edu	37	5	176815130	176815130	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176815130C>T	ENST00000324417.5	+	7	871	c.780C>T	c.(778-780)ggC>ggT	p.G260G	SLC34A1_ENST00000512593.1_Silent_p.G260G	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	260					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGTGGCCGTGATGCTC	0.602																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(778-780)ggC>ggT		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							76.0	65.0	69.0					5																	176815130		2203	4300	6503	SO:0001819	synonymous_variant	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176815130C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.780C>T	5.37:g.176815130C>T						SLC34A1_ENST00000512593.1_Silent_p.G260G	p.G260G	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	871	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	260					B4DPE3	Silent	SNP	ENST00000324417.5	37	c.780C>T	CCDS4418.1																																																																																				0.602	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		5	36	0	0	0	1	0	5	36				
PAXBP1	94104	broad.mit.edu	37	21	34134482	34134482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34134482C>A	ENST00000331923.4	-	4	985	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.D266Y	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	266					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCATCGTCATCTTCATCATCA	0.393																																						ENST00000331923.4																			0											c.(796-798)Gat>Tat		PAX3 and PAX7 binding protein 1							132.0	132.0	132.0					21																	34134482		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34134482C>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.796G>T	21.37:g.34134482C>A	ENSP00000328992:p.Asp266Tyr					PAXBP1_ENST00000290178.4_Missense_Mutation_p.D266Y|PAXBP1_ENST00000472588.1_5'UTR	p.D266Y	NM_016631.3	NP_057715.2					4	985	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.796G>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576841	0.86645	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.36699	1.66;1.24	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64227	0.2579	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.97	T	0.66563	-0.5892	10	0.87932	D	0	-28.507	19.567	0.95397	0.0:1.0:0.0:0.0	.	266;266	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	Y	266	ENSP00000328992:D266Y;ENSP00000290178:D266Y	ENSP00000290178:D266Y	D	-	1	0	GCFC1	33056353	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.126000	0.77201	2.718000	0.92993	0.650000	0.86243	GAT		0.393	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		10	105	1	0	1.58986e-06	1	1.84011e-06	10	105				
GART	2618	broad.mit.edu	37	21	34907045	34907045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34907045G>T	ENST00000381831.3	-	4	519	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	GART_ENST00000381815.4_Missense_Mutation_p.L86M|GART_ENST00000361093.5_Missense_Mutation_p.L86M|GART_ENST00000497313.1_5'Flank|GART_ENST00000381839.3_Missense_Mutation_p.L86M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	86					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCAGACCTCAGGTTCCCAACA	0.473																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(256-258)Ctg>Atg		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						86.0	76.0	80.0					21																	34907045		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34907045G>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.256C>A	21.37:g.34907045G>T	ENSP00000371253:p.Leu86Met					GART_ENST00000381815.4_Missense_Mutation_p.L86M|GART_ENST00000381839.3_Missense_Mutation_p.L86M|GART_ENST00000361093.5_Missense_Mutation_p.L86M	p.L86M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			4	519	-			86					A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.256C>A	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799791	0.50208	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819;ENST00000438059;ENST00000441403	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.93	5.06	0.68205	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Phosphoribosylglycinamide synthetase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75709	-0.3223	10	0.87932	D	0	-10.1313	7.167	0.25695	0.2781:0.0:0.7219:0.0	.	86	P22102	PUR2_HUMAN	M	86	ENSP00000371236:L86M;ENSP00000371253:L86M;ENSP00000371261:L86M;ENSP00000354388:L86M;ENSP00000413040:L86M;ENSP00000398631:L86M;ENSP00000413803:L86M;ENSP00000407783:L86M	ENSP00000354388:L86M	L	-	1	2	GART	33828915	1.000000	0.71417	0.891000	0.34965	0.335000	0.28730	1.711000	0.37930	1.538000	0.49270	0.655000	0.94253	CTG		0.473	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		14	29	1	0	3.27435e-08	1	3.90559e-08	14	29				
KCNF1	3754	broad.mit.edu	37	2	11053082	11053082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053082C>T	ENST00000295082.1	+	1	1020	c.530C>T	c.(529-531)tCg>tTg	p.S177L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	177					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AAGCCCGAGTCGTCGTGCCCG	0.687																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(529-531)tCg>tTg		potassium voltage-gated channel, subfamily F, member 1							32.0	43.0	39.0					2																	11053082		2195	4289	6484	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053082C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.530C>T	2.37:g.11053082C>T	ENSP00000295082:p.Ser177Leu						p.S177L	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1020	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		177					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.530C>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219006	0.79464	.	.	ENSG00000162975	ENST00000295082	D	0.98849	-5.18	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98858	1.0761	10	0.87932	D	0	.	19.0801	0.93178	0.0:1.0:0.0:0.0	.	177	Q9H3M0	KCNF1_HUMAN	L	177	ENSP00000295082:S177L	ENSP00000295082:S177L	S	+	2	0	KCNF1	10970533	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.776000	0.85560	2.564000	0.86499	0.563000	0.77884	TCG		0.687	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		13	20	0	0	0	1	0	13	20				
KAT6A	7994	broad.mit.edu	37	8	41791219	41791219	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41791219T>C	ENST00000396930.3	-	18	5062	c.4519A>G	c.(4519-4521)Agt>Ggt	p.S1507G	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507G|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507G	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1507					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTGTAGCCACTCTCAAGGGCA	0.562																																						ENST00000396930.3																			0											c.(4519-4521)Agt>Ggt		K(lysine) acetyltransferase 6A							146.0	121.0	129.0					8																	41791219		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791219T>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4519A>G	8.37:g.41791219T>C	ENSP00000380136:p.Ser1507Gly					KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507G|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507G	p.S1507G	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5062	-			1507					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4519A>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577165	0.28092	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60171	0.21;0.21;0.21	5.76	3.37	0.38596	.	0.170466	0.53938	N	0.000049	T	0.34600	0.0903	N	0.08118	0	0.30197	N	0.798969	B	0.23490	0.086	B	0.32762	0.152	T	0.32824	-0.9892	10	0.11485	T	0.65	-2.5365	8.962	0.35854	0.0:0.1623:0.0:0.8377	.	1507	Q92794	KAT6A_HUMAN	G	1507	ENSP00000265713:S1507G;ENSP00000385888:S1507G;ENSP00000380136:S1507G	ENSP00000265713:S1507G	S	-	1	0	KAT6A	41910376	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.835000	0.39181	0.524000	0.28502	0.528000	0.53228	AGT		0.562	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		8	91	0	0	0	1	0	8	91				
B4GALNT3	283358	broad.mit.edu	37	12	668483	668483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:668483C>T	ENST00000266383.5	+	19	2797	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	928					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGAATGGGTTCGGGCTGCTTG	0.612																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2782-2784)ttC>ttT		beta-1,4-N-acetyl-galactosaminyl transferase 3							112.0	118.0	116.0					12																	668483		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:668483C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2784C>T	12.37:g.668483C>T							p.F928F	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		19	2797	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		928					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2784C>T	CCDS8504.1																																																																																				0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		28	52	0	0	0	1	0	28	52				
CASP8AP2	9994	broad.mit.edu	37	6	90571922	90571922	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90571922A>C	ENST00000551025.1	+	0	1931									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAAGATCTTAAATCTAGATCT	0.308																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							79.0	72.0	74.0					6																	90571922		1824	4089	5913			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90571922A>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90571922A>C										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	1931	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.308	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		3	65	0	0	0	1	0	3	65				
HOXA9	3205	broad.mit.edu	37	7	27203268	27203268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203268C>A	ENST00000343483.6	-	2	845	c.773G>T	c.(772-774)aGg>aTg	p.R258M	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'Flank|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R98M	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	258					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CATTTTCATCCTGCGGTTCTG	0.463			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(772-774)aGg>aTg		homeobox A9							174.0	175.0	175.0					7																	27203268		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203268C>A		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.773G>T	7.37:g.27203268C>A	ENSP00000343619:p.Arg258Met					HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R98M|HOXA9_ENST00000396345.1_3'UTR	p.R258M	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			2	845	-			258					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.773G>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584736	0.86748	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.99167	-5.51;-5.51	5.21	5.21	0.72293	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.99697	0.9885	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97029	0.9749	10	0.87932	D	0	.	18.1323	0.89605	0.0:1.0:0.0:0.0	.	258	P31269	HXA9_HUMAN	M	258;182;249;98	ENSP00000343619:R258M;ENSP00000421799:R98M	ENSP00000242050:R249M	R	-	2	0	RP1-170O19.20;HOXA9	27169793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.623000	0.88846	0.561000	0.74099	AGG		0.463	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			19	183	1	0	1.01871e-10	1	1.25892e-10	19	183				
PRPF8	10594	broad.mit.edu	37	17	1578988	1578988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578988C>T	ENST00000572621.1	-	18	3063	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R933H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	933	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAACAGGCGGCGCTTGTCGGC	0.512																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2797-2799)cGc>cAc		pre-mRNA processing factor 8							154.0	169.0	164.0					17																	1578988		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1578988C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2798G>A	17.37:g.1578988C>T	ENSP00000460348:p.Arg933His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R933H	p.R933H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	18	3063	-			933					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2798G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743714	0.96873	.	.	ENSG00000174231	ENST00000304992	D	0.82344	-1.6	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94791	0.7962	10	0.87932	D	0	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	933	Q6P2Q9	PRP8_HUMAN	H	933	ENSP00000304350:R933H	ENSP00000304350:R933H	R	-	2	0	PRPF8	1525738	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.786000	0.85741	2.861000	0.98227	0.650000	0.86243	CGC		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			92	125	0	0	0	1	0	92	125				
PCDH15	65217	broad.mit.edu	37	10	56138598	56138598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:56138598C>T	ENST00000320301.6	-	4	656	c.262G>A	c.(262-264)Gat>Aat	p.D88N	PCDH15_ENST00000373965.2_Missense_Mutation_p.D88N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D66N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D88N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D88N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D88N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D66N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D93N|PCDH15_ENST00000395442.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D88N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D88N|PCDH15_ENST00000395440.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D88N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D88Y(3)|p.D93Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTAACAGGATCCATCAACACC	0.403										HNSCC(58;0.16)																												ENST00000373965.2																			5	Substitution - Missense(5)	p.D88Y(3)|p.D93Y(2)	lung(5)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(262-264)Gat>Aat		protocadherin-related 15							144.0	152.0	149.0					10																	56138598		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138598C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.262G>A	10.37:g.56138598C>T	ENSP00000322604:p.Asp88Asn	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.D66N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D88N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D88N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D88N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D88N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D88N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D66N|PCDH15_ENST00000395442.1_Missense_Mutation_p.D88N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D93N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D88N	p.D88N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			4	656	-		Melanoma(3;0.117)|Lung SC(717;0.238)	88			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.262G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516898	0.96416	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.48;0.5;0.47;0.45;0.44;0.7;0.6;0.38;0.37;0.38;0.35;0.38;0.38;0.45;0.55;0.49	5.5	5.5	0.81552	Cadherin (1);	.	.	.	.	T	0.61602	0.2360	L	0.29908	0.895	0.46336	D	0.99899	D;P;D;D;D;P;D;D;D;P;D;D;D;D;P	0.71674	0.995;0.768;0.998;0.998;0.985;0.768;0.995;0.972;0.998;0.768;0.972;0.985;0.986;0.991;0.855	D;B;D;D;D;B;D;P;D;B;P;P;D;P;P	0.67900	0.953;0.376;0.954;0.954;0.926;0.376;0.953;0.83;0.954;0.376;0.83;0.83;0.913;0.821;0.574	T	0.57877	-0.7735	9	0.33141	T	0.24	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	66;88;88;93;88;88;88;88;88;88;88;93;88;66;88	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	88;93;88;88;88;88;88;88;88;88;66;66;88;88;93;88;88;88	ENSP00000363076:D88N;ENSP00000410304:D93N;ENSP00000378826:D88N;ENSP00000378832:D88N;ENSP00000378833:D88N;ENSP00000378829:D88N;ENSP00000378827:D88N;ENSP00000378820:D88N;ENSP00000354950:D88N;ENSP00000378821:D66N;ENSP00000363068:D66N;ENSP00000322604:D88N;ENSP00000378818:D88N;ENSP00000412628:D88N;ENSP00000363066:D88N;ENSP00000394465:D88N	ENSP00000322604:D88N	D	-	1	0	PCDH15	55808604	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.082000	0.71318	2.611000	0.88343	0.643000	0.83706	GAT		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		13	141	0	0	0	1	0	13	141				
CDC42BPB	9578	broad.mit.edu	37	14	103418839	103418839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103418839G>A	ENST00000361246.2	-	24	3456	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACTCACCCTCGCAGGCGTAGC	0.632																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3166-3168)tgC>tgT		CDC42 binding protein kinase beta (DMPK-like)							80.0	69.0	73.0					14																	103418839		2203	4299	6502	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103418839G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3168C>T	14.37:g.103418839G>A							p.C1056C	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	24	3456	-		Melanoma(154;0.155)	1056						Silent	SNP	ENST00000361246.2	37	c.3168C>T	CCDS9978.1																																																																																				0.632	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		7	10	0	0	0	1	0	7	10				
KIZ-AS1	101929591	broad.mit.edu	37	20	21143787	21143787	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21143787G>A	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							CTCCACTAACGCACCAACAAG	0.373																																						ENST00000591761.1																			0																				89.0	86.0	87.0					20																	21143787		1841	4095	5936			0							g.chr20:21143787G>A																													20.37:g.21143787G>A						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.373	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			43	68	0	0	0	1	0	43	68				
SLC39A3	29985	broad.mit.edu	37	19	2732805	2732805	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2732805G>T	ENST00000269740.4	-	3	1218	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	SLC39A3_ENST00000545664.1_Missense_Mutation_p.L297I|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	297					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGAAGAGGACCTTGAGC	0.667																																						ENST00000269740.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(889-891)Ctc>Atc		solute carrier family 39 (zinc transporter), member 3							54.0	42.0	46.0					19																	2732805		2203	4300	6503	SO:0001583	missense	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2732805G>T	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.889C>A	19.37:g.2732805G>T	ENSP00000269740:p.Leu297Ile					SLC39A3_ENST00000545664.1_Missense_Mutation_p.L297I|AC006538.4_ENST00000586572.1_Intron	p.L297I	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1218	-		Hepatocellular(1079;0.137)	297					B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	c.889C>A	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028238	0.54790	.	.	ENSG00000141873	ENST00000545664;ENST00000269740	T;T	0.55234	0.53;0.53	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	L	0.48642	1.525	0.80722	D	1	P;P	0.48503	0.454;0.911	B;P	0.49276	0.176;0.605	T	0.50127	-0.8864	10	0.24483	T	0.36	-2.8262	15.9601	0.79923	0.0:0.0:1.0:0.0	.	297;297	F5H385;Q9BRY0	.;S39A3_HUMAN	I	297	ENSP00000445345:L297I;ENSP00000269740:L297I	ENSP00000269740:L297I	L	-	1	0	SLC39A3	2683805	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.570000	0.53834	2.092000	0.63282	0.455000	0.32223	CTC		0.667	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			22	37	1	0	2.39556e-15	1	3.07139e-15	22	37				
UGT2A1	10941	broad.mit.edu	37	4	70512785	70512785	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512785A>G	ENST00000503640.1	-	1	633	c.578T>C	c.(577-579)gTt>gCt	p.V193A	UGT2A1_ENST00000514019.1_Missense_Mutation_p.V193A|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V193A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V193A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	193					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACAGCAGGAACATAGGAAGG	0.413																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(577-579)gTt>gCt		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							94.0	81.0	86.0					4																	70512785		2203	4299	6502	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70512785A>G	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.578T>C	4.37:g.70512785A>G	ENSP00000424478:p.Val193Ala					UGT2A1_ENST00000286604.4_Missense_Mutation_p.V193A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V193A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V193A	p.V193A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			1	633	-			193					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.578T>C	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592175	0.66219	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T	0.64085	0.02;-0.08;0.02;0.02	5.78	5.78	0.91487	.	0.200987	0.41938	D	0.000785	T	0.80691	0.4671	M	0.90252	3.1	.	.	.	D;D;D;P	0.67145	0.97;0.996;0.981;0.9	P;P;P;P	0.61328	0.872;0.887;0.859;0.622	D	0.86702	0.1930	9	0.66056	D	0.02	.	14.0552	0.64764	1.0:0.0:0.0:0.0	.	193;193;193;193	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	A	193	ENSP00000424478:V193A;ENSP00000421432:V193A;ENSP00000425497:V193A;ENSP00000286604:V193A	ENSP00000286604:V193A	V	-	2	0	UGT2A1	70547374	1.000000	0.71417	0.994000	0.49952	0.463000	0.32649	5.320000	0.65841	2.215000	0.71742	0.482000	0.46254	GTT		0.413	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		17	45	0	0	0	1	0	17	45				
LRBA	987	broad.mit.edu	37	4	151765286	151765286	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151765286A>G	ENST00000357115.3	-	28	4778	c.4535T>C	c.(4534-4536)aTt>aCt	p.I1512T	LRBA_ENST00000510413.1_Missense_Mutation_p.I1512T|LRBA_ENST00000535741.1_Missense_Mutation_p.I1512T|LRBA_ENST00000507224.1_Missense_Mutation_p.I1512T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1512						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGCCGATTAATATCCATGTC	0.368																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4534-4536)aTt>aCt		LPS-responsive vesicle trafficking, beach and anchor containing							124.0	122.0	123.0					4																	151765286		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151765286A>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4535T>C	4.37:g.151765286A>G	ENSP00000349629:p.Ile1512Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.I1512T|LRBA_ENST00000507224.1_Missense_Mutation_p.I1512T|LRBA_ENST00000510413.1_Missense_Mutation_p.I1512T	p.I1512T			P50851	LRBA_HUMAN			28	5008	-	all_hematologic(180;0.151)		1512					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4535T>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895990	0.72639	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839	T;T;T;T	0.63417	0.4;0.55;0.4;-0.04	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	L	0.50333	1.59	0.80722	D	1	D;B	0.60575	0.988;0.277	P;B	0.57204	0.815;0.203	T	0.74140	-0.3761	10	0.87932	D	0	.	15.8687	0.79091	1.0:0.0:0.0:0.0	.	1512;1512	P50851;P50851-2	LRBA_HUMAN;.	T	1512;1512;1512;1512;89	ENSP00000446299:I1512T;ENSP00000421552:I1512T;ENSP00000349629:I1512T;ENSP00000422180:I1512T	ENSP00000349629:I1512T	I	-	2	0	LRBA	151984736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.255000	0.95524	2.205000	0.71048	0.454000	0.30748	ATT		0.368	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			4	143	0	0	0	1	0	4	143				
FOXN1	8456	broad.mit.edu	37	17	26861379	26861379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26861379C>T	ENST00000226247.2	+	6	987	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320W	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GAATTCTGTCCGGCACAACCT	0.572																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(958-960)Cgg>Tgg		forkhead box N1							80.0	79.0	79.0					17																	26861379		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861379C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.958C>T	17.37:g.26861379C>T	ENSP00000226247:p.Arg320Trp					FOXN1_ENST00000579795.1_Missense_Mutation_p.R320W	p.R320W	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			6	987	+	Lung NSC(42;0.00431)		320					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.958C>T	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698872	0.88830	.	.	ENSG00000109101	ENST00000226247	D	0.98135	-4.74	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98166	1.0449	10	0.87932	D	0	.	19.8853	0.96910	0.0:1.0:0.0:0.0	.	320	O15353	FOXN1_HUMAN	W	320	ENSP00000226247:R320W	ENSP00000226247:R320W	R	+	1	2	FOXN1	23885506	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	3.855000	0.55957	2.701000	0.92244	0.655000	0.94253	CGG		0.572	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			26	41	0	0	0	1	0	26	41				
NCSTN	23385	broad.mit.edu	37	1	160321854	160321854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160321854G>A	ENST00000294785.5	+	8	979	c.854G>A	c.(853-855)cGt>cAt	p.R285H	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.R265H|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368063.1_Missense_Mutation_p.R265H|NCSTN_ENST00000368065.4_Missense_Mutation_p.R27H	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	285					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGATAGTCGTTCCTTTTTC	0.488																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(793-795)cGt>cAt		nicastrin							110.0	108.0	109.0					1																	160321854		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160321854G>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.854G>A	1.37:g.160321854G>A	ENSP00000294785:p.Arg285His					NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000294785.5_Missense_Mutation_p.R285H|NCSTN_ENST00000392212.4_Missense_Mutation_p.R265H|NCSTN_ENST00000368065.4_Missense_Mutation_p.R27H	p.R265H			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1074	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		285					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.794G>A	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.82|12.82	2.052395|2.052395	0.36181|0.36181	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000368067;ENST00000392212;ENST00000368065|ENST00000424645	T;T;T;T|.	0.72167|.	-0.63;-0.63;-0.63;-0.63|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.106709|.	0.64402|.	D|.	0.000008|.	T|T	0.23806|0.23806	0.0576|0.0576	N|N	0.16233|0.16233	0.39|0.39	0.39153|0.39153	D|D	0.962259|0.962259	B;B|.	0.23316|.	0.066;0.083|.	B;B|.	0.20184|.	0.023;0.028|.	T|T	0.07102|0.07102	-1.0790|-1.0790	10|5	0.15499|.	T|.	0.54|.	-11.7287|-11.7287	7.4718|7.4718	0.27353|0.27353	0.1728:0.0:0.8272:0.0|0.1728:0.0:0.8272:0.0	.|.	265;285|.	Q92542-2;Q92542|.	.;NICA_HUMAN|.	H|I	285;265;27;265;27|121	ENSP00000294785:R285H;ENSP00000357042:R265H;ENSP00000376047:R265H;ENSP00000357044:R27H|.	ENSP00000294785:R285H|.	R|V	+|+	2|1	0|0	NCSTN|NCSTN	158588478|158588478	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	4.403000|4.403000	0.59729|0.59729	2.612000|2.612000	0.88384|0.88384	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.488	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		35	68	0	0	0	1	0	35	68				
CACNG2	10369	broad.mit.edu	37	22	36983581	36983581	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36983581G>T	ENST00000300105.6	-	2	1207	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	CACNG2_ENST00000480002.1_5'Flank	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	76					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCTTGCACAGACCTTTGAAA	0.483																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(226-228)Ctg>Atg		calcium channel, voltage-dependent, gamma subunit 2							177.0	162.0	167.0					22																	36983581		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36983581G>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.226C>A	22.37:g.36983581G>T	ENSP00000300105:p.Leu76Met						p.L76M	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			2	1207	-			76					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.226C>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258209	0.23051	.	.	ENSG00000166862	ENST00000300105	D	0.89196	-2.48	4.41	3.39	0.38822	.	0.091759	0.47852	D	0.000207	T	0.77942	0.4206	N	0.19112	0.55	0.33024	D	0.529194	B	0.06786	0.001	B	0.09377	0.004	T	0.73241	-0.4045	10	0.28530	T	0.3	-6.4616	7.4786	0.27391	0.0939:0.1679:0.7382:0.0	.	76	Q9Y698	CCG2_HUMAN	M	76	ENSP00000300105:L76M	ENSP00000300105:L76M	L	-	1	2	CACNG2	35313527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.580000	0.46068	0.963000	0.38082	0.561000	0.74099	CTG		0.483	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			40	74	1	0	1.00001e-27	1	1.33502e-27	40	74				
ZNF318	24149	broad.mit.edu	37	6	43325297	43325297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325297C>T	ENST00000361428.2	-	3	832	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R252Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	252					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTCGATTCCGTTCTGTTCC	0.453																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(754-756)cGg>cAg		zinc finger protein 318							109.0	103.0	105.0					6																	43325297		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325297C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.755G>A	6.37:g.43325297C>T	ENSP00000354964:p.Arg252Gln					ZNF318_ENST00000318149.3_Missense_Mutation_p.R252Q	p.R252Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		3	832	-			252					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.755G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241863	0.79912	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03745	3.82;3.82	4.89	4.02	0.46733	.	0.065785	0.56097	N	0.000029	T	0.04543	0.0124	N	0.24115	0.695	0.39897	D	0.973852	D	0.89917	1.0	D	0.83275	0.996	T	0.47355	-0.9124	10	0.62326	D	0.03	-4.7783	12.1399	0.53993	0.0:0.9185:0.0:0.0814	.	252	Q5VUA4	ZN318_HUMAN	Q	252	ENSP00000323032:R252Q;ENSP00000354964:R252Q	ENSP00000323032:R252Q	R	-	2	0	ZNF318	43433275	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.981000	0.40628	1.370000	0.46153	0.555000	0.69702	CGG		0.453	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		37	57	0	0	0	1	0	37	57				
SEC14L1	6397	broad.mit.edu	37	17	75208175	75208175	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208175C>A	ENST00000413679.2	+	15	2058	c.1755C>A	c.(1753-1755)acC>acA	p.T585T	SEC14L1_ENST00000585618.1_Silent_p.T585T|SEC14L1_ENST00000443798.4_Silent_p.T585T|SEC14L1_ENST00000392476.2_Silent_p.T585T|SEC14L1_ENST00000431431.2_Silent_p.T551T|SEC14L1_ENST00000591437.1_Silent_p.T551T|SEC14L1_ENST00000436233.4_Silent_p.T585T|SEC14L1_ENST00000430767.4_Silent_p.T585T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	585	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACAGCATCACCTCTCCGGGTG	0.532																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1753-1755)acC>acA		SEC14-like 1 (S. cerevisiae)							147.0	161.0	156.0					17																	75208175		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208175C>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1755C>A	17.37:g.75208175C>A						SEC14L1_ENST00000430767.4_Silent_p.T585T|SEC14L1_ENST00000436233.4_Silent_p.T585T|SEC14L1_ENST00000392476.2_Silent_p.T585T|SEC14L1_ENST00000443798.4_Silent_p.T585T|SEC14L1_ENST00000431431.2_Silent_p.T551T|SEC14L1_ENST00000585618.1_Silent_p.T585T|SEC14L1_ENST00000591437.1_Silent_p.T551T	p.T585T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			15	2058	+			585			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1755C>A	CCDS11752.1																																																																																				0.532	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		101	143	1	0	3.53432e-41	1	4.7684e-41	101	143				
KPNA5	3841	broad.mit.edu	37	6	117045503	117045503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117045503G>A	ENST00000368564.1	+	10	1112	c.964G>A	c.(964-966)Ggt>Agt	p.G322S	KPNA5_ENST00000356348.1_Missense_Mutation_p.G322S			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	319	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGGGCAGTTGGTAATATTGT	0.274																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(964-966)Ggt>Agt		karyopherin alpha 5 (importin alpha 6)							94.0	93.0	94.0					6																	117045503		2203	4296	6499	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117045503G>A	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.964G>A	6.37:g.117045503G>A	ENSP00000357552:p.Gly322Ser					KPNA5_ENST00000356348.1_Missense_Mutation_p.G322S	p.G322S			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	10	1112	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	319			NLS binding site (minor) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.964G>A	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492593	0.96339	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.66460	-0.21;-0.21	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.85137	0.5628	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88332	0.2969	10	0.87932	D	0	.	19.3723	0.94493	0.0:0.0:1.0:0.0	.	319	O15131	IMA5_HUMAN	S	322	ENSP00000357552:G322S;ENSP00000348704:G322S	ENSP00000348704:G322S	G	+	1	0	KPNA5	117152196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.509000	0.98002	2.577000	0.86979	0.591000	0.81541	GGT		0.274	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		27	31	0	0	0	1	0	27	31				
TNFRSF11A	8792	broad.mit.edu	37	18	60036460	60036460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60036460G>T	ENST00000586569.1	+	9	1348	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	437					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGGCAGCCAGCCCCAGCCCC	0.612																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1309-1311)aGc>aTc		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							33.0	36.0	35.0					18																	60036460		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60036460G>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1310G>T	18.37:g.60036460G>T	ENSP00000465500:p.Ser437Ile					TNFRSF11A_ENST00000269485.7_Intron	p.S437I	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			9	1348	+		Colorectal(73;0.188)	437					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.1310G>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708745	0.48517	.	.	ENSG00000141655	ENST00000269485	.	.	.	4.47	1.04	0.20106	.	2.650740	0.01186	N	0.007204	T	0.38612	0.1047	L	0.60455	1.87	0.09310	N	1	P	0.51653	0.947	P	0.44597	0.454	T	0.21177	-1.0253	8	.	.	.	-2.0783	4.3415	0.11112	0.3682:0.0:0.4752:0.1567	.	437	Q9Y6Q6	TNR11_HUMAN	I	437	.	.	S	+	2	0	TNFRSF11A	58187440	0.020000	0.18652	0.006000	0.13384	0.324000	0.28378	0.364000	0.20325	0.302000	0.22762	0.563000	0.77884	AGC		0.612	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			5	38	1	0	0.00116845	1	0.00124821	5	38				
LRP1B	53353	broad.mit.edu	37	2	141665541	141665541	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141665541G>T	ENST00000389484.3	-	22	4396	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1142	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAGCACAAGGATGCTTGGG	0.463										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3424-3426)cCt>cAt		low density lipoprotein receptor-related protein 1B							191.0	164.0	173.0					2																	141665541		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665541G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3425C>A	2.37:g.141665541G>T	ENSP00000374135:p.Pro1142His	TSP Lung(27;0.18)					p.P1142H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4396	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1142			LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3425C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992571	0.74703	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99051	-5.37;-3.66	5.58	5.58	0.84498	.	0.144833	0.46758	D	0.000269	D	0.98826	0.9604	L	0.39514	1.22	0.58432	D	0.999998	D;D	0.89917	0.99;1.0	D;D	0.76071	0.957;0.987	D	0.99878	1.1107	10	0.44086	T	0.13	.	19.5654	0.95390	0.0:0.0:1.0:0.0	.	325;1142	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1142;1080;287	ENSP00000374135:P1142H;ENSP00000413239:P287H	ENSP00000374135:P1142H	P	-	2	0	LRP1B	141382011	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.894000	0.87336	2.641000	0.89580	0.585000	0.79938	CCT		0.463	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	109	1	0	0.00185496	1	0.00197886	13	109				
FBN3	84467	broad.mit.edu	37	19	8151120	8151120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8151120C>A	ENST00000600128.1	-	55	7258	c.6844G>T	c.(6844-6846)Gga>Tga	p.G2282*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.G2282*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.G2282*			Q75N90	FBN3_HUMAN	fibrillin 3	2282	EGF-like 37; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGGAATCCCTCATCACAG	0.612																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6844-6846)Gga>Tga		fibrillin 3							100.0	85.0	90.0					19																	8151120		2203	4300	6503	SO:0001587	stop_gained	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8151120C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6844G>T	19.37:g.8151120C>A	ENSP00000470498:p.Gly2282*					FBN3_ENST00000270509.2_Nonsense_Mutation_p.G2282*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.G2282*	p.G2282*			Q75N90	FBN3_HUMAN			55	7258	-			2282			EGF-like 37; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	ENST00000600128.1	37	c.6844G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	48	14.585251	0.99801	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	.	.	.	4.31	4.31	0.51392	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7713	0.85538	0.0:1.0:0.0:0.0	.	.	.	.	X	2282;388	.	ENSP00000270509:G2282X	G	-	1	0	FBN3	8057120	1.000000	0.71417	0.699000	0.30290	0.011000	0.07611	7.346000	0.79347	1.952000	0.56665	0.555000	0.69702	GGA		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		28	45	1	0	4.4194e-11	1	5.49217e-11	28	45				
VLDLR	7436	broad.mit.edu	37	9	2645695	2645695	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2645695T>C	ENST00000382100.3	+	10	1790	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	VLDLR_ENST00000382099.2_Silent_p.I478I	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	478					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATGCTGACATTGCTGCCCAGA	0.423																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1432-1434)atT>atC		very low density lipoprotein receptor							179.0	183.0	181.0					9																	2645695		2203	4300	6503	SO:0001819	synonymous_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2645695T>C		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1434T>C	9.37:g.2645695T>C						VLDLR_ENST00000382099.2_Silent_p.I478I	p.I478I	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	10	1790	+			478					B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	c.1434T>C	CCDS6446.1																																																																																				0.423	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		59	140	0	0	0	1	0	59	140				
CLHC1	130162	broad.mit.edu	37	2	55407675	55407675	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55407675T>C	ENST00000401408.1	-	11	1700	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	CLHC1_ENST00000406076.1_Missense_Mutation_p.Y330C|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Missense_Mutation_p.Y3C|CLHC1_ENST00000407122.1_Missense_Mutation_p.Y452C	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	452																	CTGCTGTATGTACTCCATGAC	0.403																																						ENST00000401408.1																			0											c.(1354-1356)tAc>tGc		clathrin heavy chain linker domain containing 1							129.0	115.0	120.0					2																	55407675		2203	4300	6503	SO:0001583	missense	130162							g.chr2:55407675T>C		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1355A>G	2.37:g.55407675T>C	ENSP00000384869:p.Tyr452Cys					CLHC1_ENST00000406437.2_Missense_Mutation_p.Y3C|CLHC1_ENST00000407122.1_Missense_Mutation_p.Y452C|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.Y330C	p.Y452C	NM_152385.2	NP_689598.2					11	1700	-								B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.1355A>G	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304102	0.40795	.	.	ENSG00000162994	ENST00000406437;ENST00000407122;ENST00000401408;ENST00000406076	T;T;T;T	0.47177	0.85;1.28;1.28;1.24	5.59	5.59	0.84812	.	0.251666	0.33591	N	0.004757	T	0.64864	0.2637	M	0.66939	2.045	0.36397	D	0.86289	D	0.76494	0.999	D	0.65573	0.936	T	0.74365	-0.3689	10	0.87932	D	0	-3.876	13.5651	0.61813	0.0:0.0:0.0:1.0	.	452	Q8NHS4	CB063_HUMAN	C	3;452;452;330	ENSP00000384810:Y3C;ENSP00000385778:Y452C;ENSP00000384869:Y452C;ENSP00000385512:Y330C	ENSP00000384869:Y452C	Y	-	2	0	C2orf63	55261179	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	3.157000	0.50716	2.251000	0.74343	0.482000	0.46254	TAC		0.403	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		3	89	0	0	0	1	0	3	89				
ALDH3B2	222	broad.mit.edu	37	11	67430845	67430845	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67430845G>A	ENST00000349015.3	-	10	1437	c.999C>T	c.(997-999)caC>caT	p.H333H	ALDH3B2_ENST00000530069.1_Silent_p.H333H	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	333					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TGAACTTGCCGTGGTACCGGC	0.647																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(997-999)caC>caT		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						85.0	77.0	80.0					11																	67430845		2200	4293	6493	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67430845G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.999C>T	11.37:g.67430845G>A						ALDH3B2_ENST00000530069.1_Silent_p.H333H	p.H333H	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			10	1437	-			333					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.999C>T	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457019	0.26161	.	.	ENSG00000132746	ENST00000531248	.	.	.	3.64	-3.56	0.04626	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59037	-0.7529	4	.	.	.	.	12.7388	0.57239	0.7795:0.0:0.2205:0.0	.	.	.	.	M	62	.	.	T	-	2	0	ALDH3B2	67187421	0.000000	0.05858	0.922000	0.36590	0.950000	0.60333	-2.869000	0.00721	-0.991000	0.03476	-0.332000	0.08345	ACG		0.647	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		5	20	0	0	0	1	0	5	20				
TLR5	7100	broad.mit.edu	37	1	223285840	223285840	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223285840G>T	ENST00000540964.1	-	4	995	c.534C>A	c.(532-534)tcC>tcA	p.S178S	TLR5_ENST00000342210.6_Silent_p.S178S			O60602	TLR5_HUMAN	toll-like receptor 5	178					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTTGGTTGGAGGAAAAATCTA	0.413																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(532-534)tcC>tcA		toll-like receptor 5							58.0	62.0	61.0					1																	223285840		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285840G>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.534C>A	1.37:g.223285840G>T						TLR5_ENST00000342210.6_Silent_p.S178S	p.S178S			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	995	-			178					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.534C>A	CCDS31033.1																																																																																				0.413	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		4	78	1	0	0.000602214	1	0.000649039	4	78				
SMC1B	27127	broad.mit.edu	37	22	45785689	45785689	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45785689A>G	ENST00000357450.4	-	10	1633	c.1634T>C	c.(1633-1635)aTt>aCt	p.I545T	SMC1B_ENST00000404354.3_Missense_Mutation_p.I545T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	545	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTACAACAATGGCAGTGAT	0.413																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1633-1635)aTt>aCt		structural maintenance of chromosomes 1B							140.0	131.0	134.0					22																	45785689		1872	4118	5990	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45785689A>G	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1634T>C	22.37:g.45785689A>G	ENSP00000350036:p.Ile545Thr					SMC1B_ENST00000404354.3_Missense_Mutation_p.I545T	p.I545T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	10	1633	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	545			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1634T>C	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345693	0.82022	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.87412	-2.25;-2.25	5.39	5.39	0.77823	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.56097	D	0.000022	D	0.94932	0.8361	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.96067	0.9043	10	0.87932	D	0	.	15.4127	0.74941	1.0:0.0:0.0:0.0	.	545;545;545	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	T	545	ENSP00000350036:I545T;ENSP00000385902:I545T	ENSP00000350036:I545T	I	-	2	0	SMC1B	44164353	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.125000	0.94402	2.046000	0.60703	0.533000	0.62120	ATT		0.413	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		12	107	0	0	0	1	0	12	107				
ELMSAN1	91748	broad.mit.edu	37	14	74189425	74189425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74189425C>A	ENST00000286523.5	-	10	3482	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Q900H	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	900					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CAACCTCTTCCTGGGCCGACT	0.557																																						ENST00000286523.5																			0											c.(2698-2700)caG>caT		ELM2 and Myb/SANT-like domain containing 1							178.0	155.0	163.0					14																	74189425		2203	4300	6503	SO:0001583	missense	91748							g.chr14:74189425C>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2700G>T	14.37:g.74189425C>A	ENSP00000286523:p.Gln900His					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Q900H	p.Q900H	NM_194278.3	NP_919254.2					10	3482	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.2700G>T	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673221	0.67928	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.48	0.318	0.15867	.	0.103041	0.39210	N	0.001426	T	0.28333	0.0700	N	0.22421	0.69	0.33066	D	0.534755	D;D	0.61697	0.99;0.99	P;P	0.53593	0.73;0.73	T	0.40270	-0.9572	10	0.54805	T	0.06	-14.5742	10.7501	0.46205	0.0:0.5355:0.0:0.4645	.	900;900	A0PJD3;Q6PJG2	.;CN043_HUMAN	H	900	ENSP00000377634:Q900H;ENSP00000286523:Q900H;ENSP00000407767:Q900H;ENSP00000402380:Q900H	ENSP00000286523:Q900H	Q	-	3	2	C14orf43	73259178	0.965000	0.33210	0.997000	0.53966	0.923000	0.55619	0.085000	0.14912	0.027000	0.15297	0.561000	0.74099	CAG		0.557	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	164	1	0	0.0293803	1	0.0301098	7	164				
EXOC3	11336	broad.mit.edu	37	5	457018	457018	+	Missense_Mutation	SNP	G	G	A	rs377628378		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:457018G>A	ENST00000512944.1	+	5	1250	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	EXOC3_ENST00000315013.5_Missense_Mutation_p.R354K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	365					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAGATGATGAGGAACGTGGAG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19824	0.0		0.001	False		,,,				2504	0.0					ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(1060-1062)aGg>aAg		exocyst complex component 3		G	LYS/ARG	0,4256		0,0,2128	86.0	92.0	90.0		1061	5.6	1.0	5		90	4,8476		0,4,4236	no	missense	EXOC3	NM_007277.4	26	0,4,6364	AA,AG,GG		0.0472,0.0,0.0314	benign	354/746	457018	4,12732	2128	4240	6368	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:457018G>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1061G>A	5.37:g.457018G>A	ENSP00000425587:p.Arg354Lys					EXOC3_ENST00000315013.5_Missense_Mutation_p.R354K	p.R354K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	1250	+		Ovarian(839;0.0563)	365					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.1061G>A	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678256	0.47886	0.0	4.72E-4	ENSG00000180104	ENST00000512944;ENST00000315013	T;T	0.05258	3.47;3.47	5.57	5.57	0.84162	.	0.048576	0.85682	D	0.000000	T	0.05823	0.0152	N	0.19112	0.55	0.35772	D	0.821002	B	0.02656	0.0	B	0.15052	0.012	T	0.41502	-0.9505	10	0.22706	T	0.39	-36.5237	17.3957	0.87444	0.0:0.0:1.0:0.0	.	365	O60645	EXOC3_HUMAN	K	354	ENSP00000425587:R354K;ENSP00000323377:R354K	ENSP00000323377:R354K	R	+	2	0	EXOC3	510018	1.000000	0.71417	0.997000	0.53966	0.112000	0.19704	6.950000	0.75977	2.779000	0.95612	0.655000	0.94253	AGG		0.547	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		11	16	0	0	0	1	0	11	16				
TPPP	11076	broad.mit.edu	37	5	678081	678081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:678081G>A	ENST00000360578.5	-	2	216	c.95C>T	c.(94-96)tCg>tTg	p.S32L	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGATTCCAGCGACAGCCTCTT	0.687																																						ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(94-96)tCg>tTg		tubulin polymerization promoting protein							15.0	18.0	17.0					5																	678081		2198	4295	6493	SO:0001583	missense	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:678081G>A	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.95C>T	5.37:g.678081G>A	ENSP00000353785:p.Ser32Leu						p.S32L	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	2	216	-		Ovarian(839;0.0563)	32			Mediates interaction with LIMK1.			Missense_Mutation	SNP	ENST00000360578.5	37	c.95C>T	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	18.30	3.594424	0.66219	.	.	ENSG00000171368	ENST00000360578	T	0.47869	0.83	5.32	4.45	0.53987	.	0.459310	0.22285	N	0.062068	T	0.33411	0.0862	L	0.29908	0.895	0.49687	D	0.999817	B	0.32731	0.382	B	0.22601	0.04	T	0.08638	-1.0712	10	0.32370	T	0.25	-3.0993	13.9944	0.64388	0.0:0.152:0.848:0.0	.	32	O94811	TPPP_HUMAN	L	32	ENSP00000353785:S32L	ENSP00000353785:S32L	S	-	2	0	TPPP	731081	1.000000	0.71417	0.731000	0.30826	0.297000	0.27493	4.438000	0.59961	1.226000	0.43582	0.561000	0.74099	TCG		0.687	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		5	5	0	0	0	1	0	5	5				
AOAH	313	broad.mit.edu	37	7	36713578	36713578	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36713578A>G	ENST00000258749.5	-	3	659	c.260T>C	c.(259-261)aTt>aCt	p.I87T	AOAH_ENST00000431169.1_Missense_Mutation_p.I87T|AOAH_ENST00000535891.1_Missense_Mutation_p.I55T	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	87	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAACTTGTCAATGACTAAATA	0.348																																						ENST00000431169.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(259-261)aTt>aCt		acyloxyacyl hydrolase (neutrophil)							114.0	105.0	108.0					7																	36713578		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36713578A>G	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.260T>C	7.37:g.36713578A>G	ENSP00000258749:p.Ile87Thr					AOAH_ENST00000535891.1_Missense_Mutation_p.I55T|AOAH_ENST00000258749.5_Missense_Mutation_p.I87T	p.I87T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN			3	560	-			87			Saposin B-type.		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.260T>C	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	A	5.557	0.287635	0.10513	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647;ENST00000435386	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.14	4.01	0.46588	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.638164	0.15261	N	0.271814	T	0.63319	0.2501	.	.	.	0.20074	N	0.999934	B;P;P	0.39424	0.322;0.673;0.458	B;B;B	0.37550	0.202;0.253;0.202	T	0.60306	-0.7289	9	0.72032	D	0.01	-7.3782	7.0451	0.25040	0.902:0.0:0.098:0.0	.	55;87;87	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	T	55;87;87;87;55	ENSP00000441101:I55T;ENSP00000258749:I87T;ENSP00000405683:I87T;ENSP00000416051:I55T	ENSP00000258749:I87T	I	-	2	0	AOAH	36680103	0.002000	0.14202	0.009000	0.14445	0.073000	0.16967	1.664000	0.37439	2.284000	0.76573	0.528000	0.53228	ATT		0.348	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		7	59	0	0	0	1	0	7	59				
OR1M1	125963	broad.mit.edu	37	19	9204427	9204427	+	Silent	SNP	C	C	T	rs143401934	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204427C>T	ENST00000429566.3	+	1	573	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCGTTTTCTGCGGCAGCCATG	0.577																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(505-507)tgC>tgT		olfactory receptor, family 1, subfamily M, member 1				0,4406		0,0,2203	116.0	95.0	102.0		507	-4.2	0.0	19	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR1M1	NM_001004456.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		169/314	9204427	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204427C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.507C>T	19.37:g.9204427C>T							p.C169C	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	573	+			169					B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.507C>T	CCDS32896.1																																																																																				0.577	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			32	41	0	0	0	1	0	32	41				
FOXA3	3171	broad.mit.edu	37	19	46375614	46375614	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46375614G>A	ENST00000302177.2	+	2	548	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	117					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CACACGCCAAGCCACCGTATT	0.632																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(349-351)aaG>aaA		forkhead box A3							60.0	60.0	60.0					19																	46375614		2203	4300	6503	SO:0001819	synonymous_variant	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375614G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.351G>A	19.37:g.46375614G>A							p.K117K	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	548	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	117					A9LYI5|Q53F16|Q9UMW9	Silent	SNP	ENST00000302177.2	37	c.351G>A	CCDS12677.1																																																																																				0.632	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			4	63	0	0	0	1	0	4	63				
SLC45A3	85414	broad.mit.edu	37	1	205628647	205628647	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628647C>T	ENST00000367145.3	-	5	1672	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A459A(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCGCAGAGCGCGGGTGGAG	0.682			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	1	Substitution - coding silent(1)	p.A459A(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(1375-1377)gcG>gcA		solute carrier family 45, member 3							35.0	36.0	36.0					1																	205628647		2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205628647C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1377G>A	1.37:g.205628647C>T			OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_ENST00000460934.1_5'UTR	p.A459A	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1672	-	Breast(84;0.07)		459					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.1377G>A	CCDS1458.1																																																																																				0.682	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		11	22	0	0	0	1	0	11	22				
SNX15	29907	broad.mit.edu	37	11	64806070	64806070	+	Missense_Mutation	SNP	G	G	A	rs377428612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64806070G>A	ENST00000377244.3	+	7	821	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SAC3D1_ENST00000398846.1_5'Flank|RP11-399J13.3_ENST00000301886.3_3'UTR|SAC3D1_ENST00000531072.1_5'Flank|SNX15_ENST00000352068.5_Intron	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	231					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCACCCATGTGGCTGAGCT	0.642																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(691-693)Gtg>Atg		sorting nexin 15							29.0	29.0	29.0					11																	64806070		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64806070G>A	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.691G>A	11.37:g.64806070G>A	ENSP00000366452:p.Val231Met					SNX15_ENST00000301886.3_3'UTR	p.V231M	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN			7	821	+			231					E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.691G>A	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	G	4.311	0.057095	0.08339	.	.	ENSG00000110025	ENST00000377244	T	0.24350	1.86	5.31	-5.64	0.02466	.	2.384910	0.01210	N	0.007815	T	0.12987	0.0315	N	0.14661	0.345	0.24224	N	0.995421	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.15867	-1.0422	10	0.41790	T	0.15	-10.9982	3.3088	0.07010	0.3335:0.1232:0.4227:0.1206	.	231;231	E5KQS5;Q9NRS6	.;SNX15_HUMAN	M	231	ENSP00000366452:V231M	ENSP00000366452:V231M	V	+	1	0	SNX15	64562646	0.000000	0.05858	0.005000	0.12908	0.116000	0.19942	-1.994000	0.01474	-1.000000	0.03438	-0.471000	0.05019	GTG		0.642	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			8	21	0	0	0	1	0	8	21				
INTS8	55656	broad.mit.edu	37	8	95877901	95877901	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95877901G>A	ENST00000523731.1	+	17	2377	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	INTS8_ENST00000447247.1_Silent_p.T748T|INTS8_ENST00000520845.1_Intron	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	748					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGGAATCTACGTTAGGTATCA	0.338																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(2242-2244)acG>acA		integrator complex subunit 8							229.0	224.0	226.0					8																	95877901		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95877901G>A	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2244G>A	8.37:g.95877901G>A						INTS8_ENST00000447247.1_Silent_p.T748T|INTS8_ENST00000520845.1_Intron	p.T748T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			17	2377	+	Breast(36;1.05e-06)		748					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.2244G>A	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	G	5.946	0.358612	0.11239	.	.	ENSG00000164941	ENST00000520526	.	.	.	4.85	-1.72	0.08107	.	.	.	.	.	T	0.57784	0.2077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55347	-0.8155	4	.	.	.	-22.2307	11.4292	0.50029	0.5614:0.0:0.4386:0.0	.	.	.	.	H	570	.	.	R	+	2	0	INTS8	95947077	0.001000	0.12720	0.933000	0.37362	0.912000	0.54170	-0.242000	0.08928	-0.249000	0.09569	-0.471000	0.05019	CGT		0.338	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		60	112	0	0	0	1	0	60	112				
CCDC66	285331	broad.mit.edu	37	3	56651180	56651180	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56651180T>A	ENST00000394672.3	+	14	1954	c.1884T>A	c.(1882-1884)caT>caA	p.H628Q	CCDC66_ENST00000436465.2_Missense_Mutation_p.H628Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.H594Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	628					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGAATCACATTGTGGATCAT	0.299																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1882-1884)caT>caA		coiled-coil domain containing 66							72.0	67.0	68.0					3																	56651180		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56651180T>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1884T>A	3.37:g.56651180T>A	ENSP00000378167:p.His628Gln					CCDC66_ENST00000436465.2_Missense_Mutation_p.H628Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.H594Q	p.H628Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	14	1954	+			628					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1884T>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	8.059	0.767647	0.15983	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.58	-0.822	0.10819	.	1.283250	0.05272	N	0.517667	T	0.14485	0.0350	L	0.29908	0.895	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.32348	-0.9910	10	0.27785	T	0.31	3.6333	5.6809	0.17776	0.0:0.454:0.1351:0.4108	.	628	A2RUB6	CCD66_HUMAN	Q	584;628;594;628	ENSP00000401451:H584Q;ENSP00000378167:H628Q;ENSP00000326050:H594Q;ENSP00000404320:H628Q	ENSP00000326050:H594Q	H	+	3	2	CCDC66	56626220	0.000000	0.05858	0.010000	0.14722	0.014000	0.08584	-0.634000	0.05477	-0.091000	0.12440	-0.959000	0.02639	CAT		0.299	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		14	30	0	0	0	1	0	14	30				
RALYL	138046	broad.mit.edu	37	8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:85441713G>A	ENST00000521268.1	+	2	1262	c.157G>A	c.(157-159)Gtt>Att	p.V53I	RALYL_ENST00000521695.1_Missense_Mutation_p.V53I|RALYL_ENST00000522455.1_Missense_Mutation_p.V53I|RALYL_ENST00000518566.1_Missense_Mutation_p.V53I|RALYL_ENST00000517638.1_Missense_Mutation_p.V66I	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	53	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V53I(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGGATGTTCCGTTCACAAAGG	0.438																																						ENST00000521268.1																			3	Substitution - Missense(3)	p.V53I(3)	large_intestine(3)	endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(157-159)Gtt>Att		RALY RNA binding protein-like							61.0	63.0	62.0					8																	85441713		2014	4193	6207	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441713G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.157G>A	8.37:g.85441713G>A	ENSP00000430367:p.Val53Ile					RALYL_ENST00000522455.1_Missense_Mutation_p.V53I|RALYL_ENST00000518566.1_Missense_Mutation_p.V53I|RALYL_ENST00000517638.1_Missense_Mutation_p.V66I|RALYL_ENST00000521695.1_Missense_Mutation_p.V53I	p.V53I	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			2	1262	+			53			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.157G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659636	0.96734	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.22085	0.0532	N	0.02685	-0.53	0.80722	D	1	P;P;D	0.89917	0.951;0.865;1.0	P;B;D	0.78314	0.792;0.335;0.991	T	0.50617	-0.8807	10	0.62326	D	0.03	.	19.7001	0.96049	0.0:0.0:1.0:0.0	.	53;66;53	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	I	53;53;53;53;53;53;66	ENSP00000427787:V53I;ENSP00000430394:V53I;ENSP00000428667:V53I;ENSP00000430367:V53I;ENSP00000430065:V53I;ENSP00000428711:V53I;ENSP00000430128:V66I	ENSP00000430128:V66I	V	+	1	0	RALYL	85604268	1.000000	0.71417	0.979000	0.43373	0.969000	0.65631	9.812000	0.99227	2.732000	0.93576	0.551000	0.68910	GTT		0.438	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			4	35	0	0	0	1	0	4	35				
ZDHHC7	55625	broad.mit.edu	37	16	85010773	85010773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85010773C>A	ENST00000313732.4	-	7	1030	c.678G>T	c.(676-678)gaG>gaT	p.E226D	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.E263D|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	226					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						ACAGAAGACCCTCAAGGCACA	0.458																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(676-678)gaG>gaT		zinc finger, DHHC-type containing 7							152.0	138.0	143.0					16																	85010773		2199	4300	6499	SO:0001583	missense	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85010773C>A	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.678G>T	16.37:g.85010773C>A	ENSP00000315604:p.Glu226Asp					ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.E263D	p.E226D	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN			7	1030	-			226					D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	c.678G>T	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339552	0.81911	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.59364	1.25;0.27	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.79108	0.958;0.992	T	0.80991	-0.1135	10	0.72032	D	0.01	-19.0624	17.9985	0.89192	0.0:1.0:0.0:0.0	.	263;226	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	D	226;263	ENSP00000315604:E226D;ENSP00000341681:E263D	ENSP00000315604:E226D	E	-	3	2	ZDHHC7	83568274	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.405000	0.44548	2.484000	0.83849	0.655000	0.94253	GAG		0.458	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		18	79	1	0	1.02788e-11	1	1.28409e-11	18	79				
VWA9	81556	broad.mit.edu	37	15	65871755	65871755	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65871755T>C	ENST00000395644.4	-	12	1883	c.1548A>G	c.(1546-1548)gaA>gaG	p.E516E	VWA9_ENST00000567744.1_Silent_p.E552E|VWA9_ENST00000313182.2_Silent_p.E516E|VWA9_ENST00000420799.2_Silent_p.E459E|VWA9_ENST00000569491.1_Silent_p.E466E|VWA9_ENST00000431261.2_Silent_p.E437E|VWA9_ENST00000442903.3_Silent_p.E480E			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	516																	TTCAAATTCTTTCAGTGCTGC	0.453																																						ENST00000395644.4																			0											c.(1546-1548)gaA>gaG		von Willebrand factor A domain containing 9							101.0	100.0	100.0					15																	65871755		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65871755T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1548A>G	15.37:g.65871755T>C						VWA9_ENST00000420799.2_Silent_p.E459E|VWA9_ENST00000431261.2_Silent_p.E437E|VWA9_ENST00000313182.2_Silent_p.E516E|VWA9_ENST00000567744.1_Silent_p.E552E|VWA9_ENST00000442903.3_Silent_p.E480E|VWA9_ENST00000569491.1_Silent_p.E466E	p.E516E							12	1883	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.1548A>G																																																																																					0.453	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		45	58	0	0	0	1	0	45	58				
IGSF9B	22997	broad.mit.edu	37	11	133791002	133791002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133791002C>T	ENST00000321016.8	-	18	2848	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R873H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	873					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCTCGATGCGCCTGCTCTT	0.662																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2617-2619)cGc>cAc		immunoglobulin superfamily, member 9B							74.0	83.0	80.0					11																	133791002		2099	4205	6304	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133791002C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2618G>A	11.37:g.133791002C>T	ENSP00000317980:p.Arg873His					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R873H	p.R873H			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2848	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	873					G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2618G>A		.	.	.	.	.	.	.	.	.	.	C	19.71	3.877727	0.72294	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71817	-0.28;-0.6	4.47	3.5	0.40072	.	0.158555	0.29956	N	0.010764	T	0.76933	0.4057	L	0.51422	1.61	0.41667	D	0.989219	D	0.76494	0.999	D	0.64877	0.93	T	0.77670	-0.2501	10	0.59425	D	0.04	.	11.281	0.49195	0.0:0.904:0.0:0.096	.	873	Q9UPX0	TUTLB_HUMAN	H	873;715	ENSP00000317980:R873H;ENSP00000436552:R715H	ENSP00000317980:R873H	R	-	2	0	IGSF9B	133296212	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.572000	0.67411	1.008000	0.39264	-0.367000	0.07326	CGC		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		36	47	0	0	0	1	0	36	47				
PHKA2	5256	broad.mit.edu	37	X	18926165	18926165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18926165G>A	ENST00000379942.4	-	22	3035	c.2370C>T	c.(2368-2370)agC>agT	p.S790S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	790					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTGTGTCCCAGCTGGGACCCC	0.517																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2368-2370)agC>agT		phosphorylase kinase, alpha 2 (liver)							127.0	129.0	128.0					X																	18926165		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18926165G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2370C>T	X.37:g.18926165G>A							p.S790S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			22	3035	-	Hepatocellular(33;0.183)		790					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.2370C>T	CCDS14190.1																																																																																				0.517	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		26	179	0	0	0	1	0	26	179				
BRCA2	675	broad.mit.edu	37	13	32912286	32912286	+	Missense_Mutation	SNP	G	G	A	rs397507315		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912286G>A	ENST00000380152.3	+	11	4027	c.3794G>A	c.(3793-3795)tGt>tAt	p.C1265Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.C1265Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1265					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAAGTAAATGTCATGATTCT	0.279			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(3793-3795)tGt>tAt	Homologous recombination	breast cancer 2, early onset							31.0	32.0	32.0					13																	32912286		2203	4298	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912286G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3794G>A	13.37:g.32912286G>A	ENSP00000369497:p.Cys1265Tyr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.C1265Y	p.C1265Y	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4021	+		Lung SC(185;0.0262)	1265					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3794G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.945373	0.00003	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00801	5.68;5.68	5.23	-2.94	0.05581	.	1.237840	0.05274	N	0.518165	T	0.00906	0.0030	L	0.41027	1.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50923	-0.8770	10	0.02654	T	1	.	8.2302	0.31593	0.4942:0.0:0.4069:0.0988	.	1265	P51587	BRCA2_HUMAN	Y	1265	ENSP00000369497:C1265Y;ENSP00000439902:C1265Y	ENSP00000369497:C1265Y	C	+	2	0	BRCA2	31810286	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.034000	0.12225	-1.154000	0.02825	-3.116000	0.00062	TGT		0.279	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		11	16	0	0	0	1	0	11	16				
SOCS6	9306	broad.mit.edu	37	18	67992683	67992683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992683G>A	ENST00000397942.3	+	2	1095	c.779G>A	c.(778-780)cGc>cAc	p.R260H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R260H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	260					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTGGGAGGGCGCGCTTTCCCC	0.547																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(778-780)cGc>cAc		suppressor of cytokine signaling 6							110.0	92.0	98.0					18																	67992683		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992683G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.779G>A	18.37:g.67992683G>A	ENSP00000381034:p.Arg260His					SOCS6_ENST00000582322.1_Missense_Mutation_p.R260H	p.R260H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1095	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	260					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.779G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	3.174	-0.169350	0.06461	.	.	ENSG00000170677	ENST00000397942	T	0.22539	1.95	5.12	1.89	0.25635	.	1.325450	0.05013	N	0.471331	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B	0.19935	0.04	B	0.19666	0.026	T	0.32402	-0.9908	10	0.54805	T	0.06	-0.6151	8.9193	0.35601	0.4033:0.0:0.5967:0.0	.	260	O14544	SOCS6_HUMAN	H	260	ENSP00000381034:R260H	ENSP00000381034:R260H	R	+	2	0	SOCS6	66143663	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.631000	0.24568	0.564000	0.29238	-0.258000	0.10820	CGC		0.547	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			29	40	0	0	0	1	0	29	40				
ZNF48	197407	broad.mit.edu	37	16	30409126	30409126	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409126C>A	ENST00000320159.2	+	2	931	c.555C>A	c.(553-555)atC>atA	p.I185I	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGTCCCGGATCCCTGCTGGTG	0.607																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(553-555)atC>atA		zinc finger protein 48							34.0	40.0	38.0					16																	30409126		2197	4300	6497	SO:0001819	synonymous_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409126C>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.555C>A	16.37:g.30409126C>A							p.I185I	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	931	+			185					Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	ENST00000320159.2	37	c.555C>A	CCDS10679.1																																																																																				0.607	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		14	48	1	0	6.31663e-08	1	7.49729e-08	14	48				
CDHR2	54825	broad.mit.edu	37	5	176017138	176017138	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176017138C>A	ENST00000510636.1	+	25	3540	c.3266C>A	c.(3265-3267)tCt>tAt	p.S1089Y	CDHR2_ENST00000261944.5_Missense_Mutation_p.S1089Y|CDHR2_ENST00000506348.1_Missense_Mutation_p.S1089Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1089					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACATAGATTCTGCAGCTCGG	0.582																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3265-3267)tCt>tAt		cadherin-related family member 2							169.0	186.0	180.0					5																	176017138		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176017138C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3266C>A	5.37:g.176017138C>A	ENSP00000424565:p.Ser1089Tyr					CDHR2_ENST00000506348.1_Missense_Mutation_p.S1089Y|CDHR2_ENST00000261944.5_Missense_Mutation_p.S1089Y	p.S1089Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			25	3540	+			1089					A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3266C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	13.09	2.133840	0.37630	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.58210	0.35;0.35;0.35	4.37	3.42	0.39159	.	.	.	.	.	T	0.62344	0.2420	M	0.70595	2.14	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.54077	-0.8347	9	0.09843	T	0.71	-18.2292	11.7342	0.51755	0.0:0.6982:0.3018:0.0	.	1089	Q9BYE9	CDHR2_HUMAN	Y	1089	ENSP00000424565:S1089Y;ENSP00000261944:S1089Y;ENSP00000421078:S1089Y	ENSP00000261944:S1089Y	S	+	2	0	CDHR2	175949744	0.000000	0.05858	0.016000	0.15963	0.027000	0.11550	0.410000	0.21098	2.002000	0.58637	0.537000	0.68136	TCT		0.582	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		122	160	1	0	6.25825e-54	1	8.46681e-54	122	160				
NEIL3	55247	broad.mit.edu	37	4	178283482	178283482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178283482C>T	ENST00000264596.3	+	10	1793	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	559					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATGGCAAGCGTTCCACCAT	0.373								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1675-1677)Cgt>Tgt	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							95.0	97.0	96.0					4																	178283482		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178283482C>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1675C>T	4.37:g.178283482C>T	ENSP00000264596:p.Arg559Cys						p.R559C	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	10	1793	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	559					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1675C>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885140	0.72410	.	.	ENSG00000109674	ENST00000264596	T	0.24908	1.83	5.16	4.32	0.51571	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61715	-0.7006	10	0.87932	D	0	-17.3176	13.9365	0.64027	0.0:0.9265:0.0:0.0735	.	559	Q8TAT5	NEIL3_HUMAN	C	559	ENSP00000264596:R559C	ENSP00000264596:R559C	R	+	1	0	NEIL3	178520476	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	5.872000	0.69636	1.337000	0.45525	0.491000	0.48974	CGT		0.373	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		26	54	0	0	0	1	0	26	54				
KIAA1467	57613	broad.mit.edu	37	12	13238070	13238070	+	IGR	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13238070T>G	ENST00000197268.8	+	0	4808				GSG1_ENST00000537302.1_Missense_Mutation_p.K221T|GSG1_ENST00000396302.3_3'UTR|GSG1_ENST00000324458.8_Missense_Mutation_p.K285T|GSG1_ENST00000396310.2_Missense_Mutation_p.K218T|GSG1_ENST00000432710.2_Missense_Mutation_p.K262T|GSG1_ENST00000337630.6_Missense_Mutation_p.K249T|GSG1_ENST00000457134.2_Missense_Mutation_p.K198T|GSG1_ENST00000351606.6_3'UTR	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGGGTTTTCCTTGAAGCTCTT	0.557																																						ENST00000337630.6																			0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(745-747)aAg>aCg		germ cell associated 1							85.0	58.0	67.0					12																	13238070		2203	4300	6503	SO:0001628	intergenic_variant	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13238070T>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67			12.37:g.13238070T>G						GSG1_ENST00000432710.2_Missense_Mutation_p.K262T|GSG1_ENST00000457134.2_Missense_Mutation_p.K198T|GSG1_ENST00000537302.1_Missense_Mutation_p.K221T|GSG1_ENST00000324458.8_Missense_Mutation_p.K285T|GSG1_ENST00000396302.3_3'UTR|GSG1_ENST00000396310.2_Missense_Mutation_p.K218T|GSG1_ENST00000351606.6_3'UTR	p.K249T	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	6	813	-		Prostate(47;0.183)	272					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.746A>C	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330759	0.41297	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000457134;ENST00000432710;ENST00000537302	T;T;T;T;T;T	0.32753	1.46;1.44;1.44;1.44;1.45;1.44	5.55	0.353	0.16058	.	1.259470	0.05183	N	0.501663	T	0.29882	0.0747	L	0.59436	1.845	0.09310	N	1	P;P;P;P;B	0.43094	0.799;0.57;0.589;0.589;0.417	B;B;B;B;B	0.39840	0.311;0.138;0.167;0.229;0.098	T	0.29427	-1.0012	10	0.17369	T	0.5	.	9.1643	0.37041	0.0:0.3065:0.0:0.6935	.	262;272;198;221;249	Q2KHT4-6;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A1	.;GSG1_HUMAN;.;.;.	T	249;285;218;198;262;221	ENSP00000336816:K249T;ENSP00000320838:K285T;ENSP00000379604:K218T;ENSP00000398384:K198T;ENSP00000405032:K262T;ENSP00000441718:K221T	ENSP00000320838:K285T	K	-	2	0	GSG1	13129337	0.096000	0.21769	0.007000	0.13788	0.026000	0.11368	0.944000	0.29043	-0.169000	0.10834	-0.366000	0.07423	AAG		0.557	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		19	21	0	0	0	1	0	19	21				
ZMYND10	51364	broad.mit.edu	37	3	50379074	50379074	+	Missense_Mutation	SNP	C	C	T	rs200276907		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50379074C>T	ENST00000231749.3	-	11	2450	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R388H|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'UTR|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	393	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAAGCACAGCGGGGCCGCTC	0.587										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(1177-1179)cGc>cAc		zinc finger, MYND-type containing 10		C	HIS/ARG	0,4406		0,0,2203	68.0	70.0	69.0		1178	0.0	1.0	3		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZMYND10	NM_015896.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	393/441	50379074	1,13005	2203	4300	6503	SO:0001583	missense	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50379074C>T	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1178G>A	3.37:g.50379074C>T	ENSP00000231749:p.Arg393His	TSP Lung(30;0.18)				ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R388H	p.R393H	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	11	2450	-			393					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	c.1178G>A	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539151	0.45176	0.0	1.16E-4	ENSG00000004838	ENST00000231749;ENST00000360165	.	.	.	5.57	0.0192	0.14120	.	0.194412	0.42821	N	0.000656	T	0.36193	0.0958	L	0.31752	0.955	0.34908	D	0.747198	B;B	0.14012	0.009;0.002	B;B	0.08055	0.003;0.001	T	0.32161	-0.9917	9	0.52906	T	0.07	-11.4228	9.7915	0.40708	0.0:0.4377:0.0:0.5623	.	388;393	O75800-2;O75800	.;ZMY10_HUMAN	H	393;388	.	ENSP00000231749:R393H	R	-	2	0	ZMYND10	50354078	0.862000	0.29867	0.998000	0.56505	0.659000	0.38960	0.819000	0.27308	0.063000	0.16370	-0.794000	0.03295	CGC		0.587	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		15	26	0	0	0	1	0	15	26				
TBC1D24	57465	broad.mit.edu	37	16	2547099	2547099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2547099C>T	ENST00000293970.5	+	2	1083	c.950C>T	c.(949-951)aCc>aTc	p.T317I	TBC1D24_ENST00000434757.2_Missense_Mutation_p.T317I|TBC1D24_ENST00000567020.1_Missense_Mutation_p.T317I|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.T317I	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	317					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AAGGGCATCACCGTGAAGCAG	0.632																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(949-951)aCc>aTc		TBC1 domain family, member 24							38.0	44.0	42.0					16																	2547099		2073	4193	6266	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2547099C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.950C>T	16.37:g.2547099C>T	ENSP00000293970:p.Thr317Ile					TBC1D24_ENST00000293970.5_Missense_Mutation_p.T317I|TBC1D24_ENST00000434757.2_Missense_Mutation_p.T317I|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.T317I	p.T317I	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			2	1090	+			317					A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.950C>T	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569973	0.65765	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.24723	1.84;1.84	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.949;0.983;0.992	T	0.49504	-0.8933	10	0.45353	T	0.12	-35.6807	17.0959	0.86635	0.0:1.0:0.0:0.0	.	317;317;317	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	I	317	ENSP00000293970:T317I;ENSP00000390106:T317I	ENSP00000293970:T317I	T	+	2	0	TBC1D24	2487100	1.000000	0.71417	0.920000	0.36463	0.945000	0.59286	5.973000	0.70456	2.368000	0.80403	0.655000	0.94253	ACC		0.632	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		6	45	0	0	0	1	0	6	45				
OR9Q2	219957	broad.mit.edu	37	11	57958410	57958410	+	Missense_Mutation	SNP	G	G	A	rs560557452		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958410G>A	ENST00000311591.3	+	1	505	c.448G>A	c.(448-450)Gtt>Att	p.V150I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGGGGCTTACGTTGCTGGTTT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		22276	0.0		0.0	False		,,,				2504	0.001					ENST00000311591.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(448-450)Gtt>Att		olfactory receptor, family 9, subfamily Q, member 2							90.0	76.0	81.0					11																	57958410		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958410G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.448G>A	11.37:g.57958410G>A	ENSP00000308714:p.Val150Ile						p.V150I	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	505	+		Breast(21;0.0589)	150						Missense_Mutation	SNP	ENST00000311591.3	37	c.448G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.526065	0.00959	.	.	ENSG00000186513	ENST00000311591	T	0.36699	1.24	4.86	-0.179	0.13299	GPCR, rhodopsin-like superfamily (1);	2.148170	0.02240	N	0.065685	T	0.22003	0.0530	N	0.16016	0.355	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.17228	-1.0376	10	0.10111	T	0.7	-2.5026	8.7799	0.34785	0.4592:0.0:0.5408:0.0	.	150	Q8NGE9	OR9Q2_HUMAN	I	150	ENSP00000308714:V150I	ENSP00000308714:V150I	V	+	1	0	OR9Q2	57714986	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.001000	0.12947	-0.101000	0.12219	-0.768000	0.03414	GTT		0.527	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		28	42	0	0	0	1	0	28	42				
CELF2	10659	broad.mit.edu	37	10	11363273	11363273	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11363273C>T	ENST00000379261.4	+	11	1271	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	CELF2_ENST00000542579.1_Silent_p.Y406Y|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000315874.4_Silent_p.Y375Y|CELF2_ENST00000416382.2_Silent_p.Y393Y|CELF2_ENST00000354440.2_Silent_p.Y375Y|CELF2_ENST00000450189.1_Silent_p.Y406Y|CELF2_ENST00000399850.3_Silent_p.Y375Y|CELF2_ENST00000609692.1_Silent_p.Y373Y|CELF2_ENST00000354897.3_Silent_p.Y387Y|CELF2_ENST00000608830.1_Silent_p.Y373Y|CELF2_ENST00000417956.2_Silent_p.Y373Y|CELF2_ENST00000537122.1_Silent_p.Y288Y|CELF2_ENST00000427450.1_Silent_p.Y375Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	393	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTCAACAGTACGCAGCCGCCG	0.652																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1177-1179)taC>taT		CUGBP, Elav-like family member 2							52.0	55.0	54.0					10																	11363273		2067	4206	6273	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363273C>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1179C>T	10.37:g.11363273C>T						CELF2_ENST00000427450.1_Silent_p.Y375Y|CELF2_ENST00000354440.2_Silent_p.Y375Y|CELF2_ENST00000542579.1_Silent_p.Y406Y|CELF2_ENST00000416382.2_Silent_p.Y393Y|CELF2_ENST00000399850.3_Silent_p.Y375Y|CELF2_ENST00000537122.1_Silent_p.Y288Y|CELF2_ENST00000315874.3_Silent_p.Y375Y|CELF2_ENST00000417956.2_Silent_p.Y373Y|CELF2_ENST00000354897.3_Silent_p.Y387Y|CELF2_ENST00000450189.1_Silent_p.Y406Y	p.Y393Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1271	+			393			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.1179C>T	CCDS44354.1																																																																																				0.652	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	39	0	0	0	1	0	5	39				
RASAL2	9462	broad.mit.edu	37	1	178433521	178433521	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178433521C>T	ENST00000462775.1	+	13	3063	c.2938C>T	c.(2938-2940)Cta>Tta	p.L980L	RASAL2_ENST00000367649.3_Silent_p.L1121L|RASAL2_ENST00000448150.3_Silent_p.L1110L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	980					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGCAAAATCTAGATGAAGC	0.458																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3328-3330)Cta>Tta		RAS protein activator like 2							124.0	107.0	113.0					1																	178433521		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178433521C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2938C>T	1.37:g.178433521C>T						RASAL2_ENST00000367649.3_Silent_p.L1121L|RASAL2_ENST00000462775.1_Silent_p.L980L	p.L1110L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			15	4146	+			980					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.3328C>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	7.009	0.556438	0.13436	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.70439	0.3224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68861	-0.5297	4	.	.	.	.	14.2268	0.65866	0.1492:0.8508:0.0:0.0	.	.	.	.	F	530	.	.	S	+	2	0	RASAL2	176700144	1.000000	0.71417	0.880000	0.34516	0.796000	0.44982	3.338000	0.52128	2.563000	0.86464	0.655000	0.94253	TCT		0.458	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		14	27	0	0	0	1	0	14	27				
FARP2	9855	broad.mit.edu	37	2	242402851	242402851	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242402851C>T	ENST00000264042.3	+	16	1949	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	FARP2_ENST00000373287.4_Silent_p.F593F|FARP2_ENST00000545004.1_Silent_p.F593F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	593	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F593L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACAGAGGCTTCCTGCGCGAGG	0.587																																						ENST00000264042.3																			1	Substitution - Missense(1)	p.F593L(1)	endometrium(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1777-1779)ttC>ttT		FERM, RhoGEF and pleckstrin domain protein 2							103.0	85.0	91.0					2																	242402851		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242402851C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1779C>T	2.37:g.242402851C>T						FARP2_ENST00000545004.1_Silent_p.F593F|FARP2_ENST00000373287.4_Silent_p.F593F	p.F593F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	16	1949	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	593			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1779C>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588739	0.28357	.	.	ENSG00000006607	ENST00000422951	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.60495	0.2273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58853	-0.7563	4	.	.	.	.	9.2825	0.37737	0.0:0.8324:0.0:0.1676	.	.	.	.	F	34	.	.	S	+	2	0	FARP2	242051524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.949000	0.29109	2.434000	0.82447	0.655000	0.94253	TCC		0.587	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			25	20	0	0	0	1	0	25	20				
ELAVL1	1994	broad.mit.edu	37	19	8032574	8032574	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8032574C>T	ENST00000407627.2	-	5	660	c.531G>A	c.(529-531)gaG>gaA	p.E177E	ELAVL1_ENST00000351593.5_Silent_p.E204E|ELAVL1_ENST00000596459.1_Silent_p.E177E|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	177	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTGATGGGCTCAGAGGAAC	0.557																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(529-531)gaG>gaA		ELAV like RNA binding protein 1							138.0	109.0	119.0					19																	8032574		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8032574C>T	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.531G>A	19.37:g.8032574C>T						ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000351593.5_Silent_p.E204E|ELAVL1_ENST00000596459.1_Silent_p.E177E	p.E177E	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			5	660	-			177			RRM 2.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.531G>A	CCDS12193.1																																																																																				0.557	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		18	29	0	0	0	1	0	18	29				
PLEC	5339	broad.mit.edu	37	8	144999605	144999605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144999605G>A	ENST00000322810.4	-	31	5072	c.4903C>T	c.(4903-4905)Cgc>Tgc	p.R1635C	PLEC_ENST00000527096.1_Missense_Mutation_p.R1521C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1498C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1484C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1476C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1466C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1525C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1502C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1498C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1635	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCGCAAGCGCTCGGCCTCC	0.731																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4903-4905)Cgc>Tgc		plectin							9.0	9.0	9.0					8																	144999605		1951	3914	5865	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144999605G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4903C>T	8.37:g.144999605G>A	ENSP00000323856:p.Arg1635Cys					PLEC_ENST00000354589.3_Missense_Mutation_p.R1498C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1498C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1476C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1484C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1502C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1521C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1525C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1466C	p.R1635C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	5072	-			1635			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4903C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736840	0.49045	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78003	1.33;-1.1;1.33;-1.13;-1.14;-1.1;-1.1;1.33;1.33	4.36	4.36	0.52297	.	0.194630	0.28859	U	0.013905	D	0.82706	0.5095	L	0.47716	1.5	0.46609	D	0.999129	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P;P	0.60949	0.881;0.881;0.881;0.764;0.881;0.881;0.881;0.881	D	0.84723	0.0741	10	0.59425	D	0.04	.	16.5021	0.84260	0.0:0.0:1.0:0.0	.	1525;1484;1476;1635;1466;1498;1502;1498	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	1498;1502;1498;1466;1635;1476;1484;1525;1521	ENSP00000344848:R1498C;ENSP00000350277:R1502C;ENSP00000346602:R1498C;ENSP00000381756:R1466C;ENSP00000323856:R1635C;ENSP00000347044:R1476C;ENSP00000348702:R1484C;ENSP00000388180:R1525C;ENSP00000434583:R1521C	ENSP00000323856:R1635C	R	-	1	0	PLEC	145071593	1.000000	0.71417	0.988000	0.46212	0.905000	0.53344	3.603000	0.54074	1.975000	0.57531	0.442000	0.29010	CGC		0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	8	0	0	0	1	0	4	8				
PLK3	1263	broad.mit.edu	37	1	45270140	45270140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45270140A>G	ENST00000372201.4	+	12	1711	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	491	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.		D -> N (in dbSNP:rs17855444). {ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCTTCAACGATGGCACACAT	0.557																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1471-1473)gAt>gGt		polo-like kinase 3							66.0	70.0	68.0					1																	45270140		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270140A>G	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1472A>G	1.37:g.45270140A>G	ENSP00000361275:p.Asp491Gly					PLK3_ENST00000465443.1_3'UTR	p.D491G	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			12	1711	+	Acute lymphoblastic leukemia(166;0.155)		491		D -> N (in dbSNP:rs17855444).	POLO box 1.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1472A>G	CCDS515.1	.	.	.	.	.	.	.	.	.	.	a	15.47	2.842935	0.51057	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.55760	0.5	5.49	5.49	0.81192	POLO box duplicated domain (2);	.	.	.	.	T	0.70386	0.3218	M	0.81341	2.54	0.30055	N	0.811377	D	0.59767	0.986	D	0.65573	0.936	T	0.71471	-0.4583	9	0.72032	D	0.01	-7.6816	9.5722	0.39436	0.9217:0.0:0.0783:0.0	.	491	Q9H4B4	PLK3_HUMAN	G	491;466	ENSP00000361275:D491G	ENSP00000361275:D491G	D	+	2	0	PLK3	45042727	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.317000	0.72862	2.222000	0.72286	0.529000	0.55759	GAT		0.557	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		20	48	0	0	0	1	0	20	48				
SFXN1	94081	broad.mit.edu	37	5	174919203	174919203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:174919203G>A	ENST00000321442.5	+	2	351	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SFXN1_ENST00000502393.1_Missense_Mutation_p.D33N	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	33					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACTGTAACTGACCCCAGGAA	0.388																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(97-99)Gac>Aac		sideroflexin 1							110.0	96.0	101.0					5																	174919203		2203	4300	6503	SO:0001583	missense	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174919203G>A	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.97G>A	5.37:g.174919203G>A	ENSP00000316905:p.Asp33Asn					SFXN1_ENST00000502393.1_Missense_Mutation_p.D33N	p.D33N	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	351	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	33					B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	c.97G>A	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240930	0.39598	.	.	ENSG00000164466	ENST00000507017;ENST00000321442;ENST00000506963	T;T;T	0.29142	1.58;1.58;1.58	5.27	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	N	0.17800	0.525	0.80722	D	1	B	0.27316	0.175	B	0.39738	0.308	T	0.06935	-1.0799	10	0.15066	T	0.55	-31.7252	13.3825	0.60775	0.0773:0.0:0.9227:0.0	.	33	Q9H9B4	SFXN1_HUMAN	N	33	ENSP00000420961:D33N;ENSP00000316905:D33N;ENSP00000421467:D33N	ENSP00000316905:D33N	D	+	1	0	SFXN1	174851809	1.000000	0.71417	0.522000	0.27862	0.971000	0.66376	7.881000	0.87252	2.460000	0.83146	0.555000	0.69702	GAC		0.388	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		6	48	0	0	0	1	0	6	48				
TTN	7273	broad.mit.edu	37	2	179587650	179587650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587650C>T	ENST00000591111.1	-	74	21249	c.21025G>A	c.(21025-21027)Gtt>Att	p.V7009I	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V6082I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V7326I|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12593	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCGTAACAAAATAAGGC	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21976-21978)Gtt>Att		titin							35.0	36.0	36.0					2																	179587650		1967	4158	6125	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587650C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21025G>A	2.37:g.179587650C>T	ENSP00000465570:p.Val7009Ile					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6082I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V7009I	p.V7326I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		76	22200	-			7009			Ig-like 55.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21976G>A		.	.	.	.	.	.	.	.	.	.	C	10.46	1.355446	0.24512	.	.	ENSG00000155657	ENST00000342992	T	0.40225	1.04	5.95	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24624	0.0597	N	0.05078	-0.115	0.80722	D	1	B	0.15719	0.014	B	0.16289	0.015	T	0.06570	-1.0819	9	0.87932	D	0	.	12.1038	0.53801	0.0:0.8627:0.0:0.1373	.	7009	Q8WZ42	TITIN_HUMAN	I	6082	ENSP00000343764:V6082I	ENSP00000343764:V6082I	V	-	1	0	TTN	179295895	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.226000	0.32563	1.531000	0.49152	0.650000	0.86243	GTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	17	0	0	0	1	0	5	17				
TMEM2	23670	broad.mit.edu	37	9	74300191	74300191	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74300191G>A	ENST00000377044.4	-	24	4613	c.4074C>T	c.(4072-4074)gaC>gaT	p.D1358D	TMEM2_ENST00000396272.3_Silent_p.D351D|TMEM2_ENST00000377066.5_Silent_p.D1295D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1358					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCATATTCGTCCAGCTGCA	0.463																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(4072-4074)gaC>gaT		transmembrane protein 2							129.0	118.0	122.0					9																	74300191		2203	4300	6503	SO:0001819	synonymous_variant	23670					integral to membrane		g.chr9:74300191G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.4074C>T	9.37:g.74300191G>A						TMEM2_ENST00000396272.3_Silent_p.D351D|TMEM2_ENST00000377066.5_Silent_p.D1295D	p.D1358D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	24	4613	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1358					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	c.4074C>T	CCDS6638.1																																																																																				0.463	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		38	51	0	0	0	1	0	38	51				
SEPT2	4735	broad.mit.edu	37	2	242287575	242287575	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242287575A>G	ENST00000391973.2	+	11	1481	c.953A>G	c.(952-954)aAa>aGa	p.K318R	SEPT2_ENST00000391971.2_Missense_Mutation_p.K318R|SEPT2_ENST00000401990.1_Missense_Mutation_p.K328R|SEPT2_ENST00000402092.2_Missense_Mutation_p.K318R|SEPT2_ENST00000407971.1_Missense_Mutation_p.K278R|SEPT2_ENST00000360051.3_Missense_Mutation_p.K318R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	318					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GACATGAATAAAGACCAGATC	0.373																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(952-954)aAa>aGa		septin 2							166.0	169.0	168.0					2																	242287575		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242287575A>G	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.953A>G	2.37:g.242287575A>G	ENSP00000375834:p.Lys318Arg					SEPT2_ENST00000402092.2_Missense_Mutation_p.K318R|SEPT2_ENST00000360051.3_Missense_Mutation_p.K318R|SEPT2_ENST00000407971.1_Missense_Mutation_p.K278R|SEPT2_ENST00000401990.1_Missense_Mutation_p.K328R|SEPT2_ENST00000391971.2_Missense_Mutation_p.K318R	p.K318R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	11	1481	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	318					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.953A>G	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617051	0.66672	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.59;0.59;0.58;0.69	6.07	4.73	0.59995	.	0.147380	0.64402	D	0.000015	T	0.51873	0.1700	L	0.53249	1.67	0.58432	D	0.999999	B;P;P	0.51653	0.165;0.9;0.947	B;P;P	0.46026	0.051;0.493;0.501	T	0.54173	-0.8333	10	0.44086	T	0.13	.	12.7937	0.57549	0.927:0.0:0.073:0.0	.	353;278;318	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	R	318;318;318;328;278;318;353;145	ENSP00000375834:K318R;ENSP00000353157:K318R;ENSP00000375832:K318R;ENSP00000385109:K328R;ENSP00000384525:K278R;ENSP00000385172:K318R;ENSP00000408296:K145R	ENSP00000353157:K318R	K	+	2	0	SEPT2	241936248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.623000	0.74238	2.326000	0.78906	0.533000	0.62120	AAA		0.373	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		10	82	0	0	0	1	0	10	82				
KIAA1324	57535	broad.mit.edu	37	1	109714636	109714636	+	Splice_Site	SNP	G	G	A	rs533001419		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109714636G>A	ENST00000369939.3	+	4	798		c.e4+1		KIAA1324_ENST00000529753.1_Splice_Site	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324						cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGAGTTTTTCGTAAGCCCCTG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19781	0.0		0.0	False		,,,				2504	0.0					ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.e4+1		KIAA1324							119.0	110.0	113.0					1																	109714636		2203	4300	6503	SO:0001630	splice_region_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109714636G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.615+1G>A	1.37:g.109714636G>A						KIAA1324_ENST00000529753.1_Splice_Site		NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	4	798	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)						Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Splice_Site	SNP	ENST00000369939.3	37		CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901179	0.72754	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7729	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1324	109516159	1.000000	0.71417	0.996000	0.52242	0.526000	0.34562	9.780000	0.99024	2.757000	0.94681	0.650000	0.86243	.		0.507	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	Intron	40	107	0	0	0	1	0	40	107				
HNRNPL	3191	broad.mit.edu	37	19	39328286	39328286	+	Silent	SNP	G	G	A	rs537258025		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39328286G>A	ENST00000221419.5	-	11	1929	c.1563C>T	c.(1561-1563)tgC>tgT	p.C521C	AC104534.3_ENST00000594769.1_Missense_Mutation_p.A138V|HNRNPL_ENST00000600873.1_Silent_p.C388C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	521	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCAGCTCATCGCAGATCTGCA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18199	0.0		0.0	False		,,,				2504	0.001					ENST00000594769.1																			0											c.(412-414)gCg>gTg									48.0	46.0	47.0					19																	39328286		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:39328286G>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1563C>T	19.37:g.39328286G>A						HNRNPL_ENST00000600873.1_Silent_p.C388C|HNRNPL_ENST00000221419.5_Silent_p.C521C	p.A138V							4	412	-								A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.413C>T	CCDS33015.1																																																																																				0.493	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			4	28	0	0	0	1	0	4	28				
ZNF608	57507	broad.mit.edu	37	5	124080282	124080282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:124080282C>T	ENST00000306315.5	-	1	836	c.401G>A	c.(400-402)gGc>gAc	p.G134D	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	134							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGCCTCTTGCCAGTGCTGCT	0.527																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(400-402)gGc>gAc		zinc finger protein 608							71.0	70.0	71.0					5																	124080282		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124080282C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.401G>A	5.37:g.124080282C>T	ENSP00000307746:p.Gly134Asp						p.G134D	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	836	-		all_cancers(142;0.186)|Prostate(80;0.081)	134					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.401G>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152626	0.57259	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.55052	0.54	5.33	4.46	0.54185	.	0.287027	0.30446	N	0.009608	T	0.44244	0.1284	L	0.48642	1.525	0.80722	D	1	B	0.16802	0.019	B	0.19946	0.027	T	0.34825	-0.9813	10	0.37606	T	0.19	-16.5901	9.4407	0.38666	0.0:0.7796:0.1439:0.0765	.	134	Q9ULD9	ZN608_HUMAN	D	134	ENSP00000307746:G134D	ENSP00000307746:G134D	G	-	2	0	ZNF608	124108181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.891000	0.48617	1.381000	0.46364	0.655000	0.94253	GGC		0.527	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		24	31	0	0	0	1	0	24	31				
TRAV27	28655	broad.mit.edu	37	14	22616465	22616465	+	RNA	SNP	C	C	T	rs34071112|rs375575502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22616465C>T	ENST00000390457.2	+	0	303									T cell receptor alpha variable 27																		ACAGTAGTTACGGGTGGAGAA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		21341	0.0		0.001	False		,,,				2504	0.0					ENST00000390457.2																			0															C		1,3825		0,1,1912	56.0	58.0	57.0			-2.6	0.0	14		57	0,8270		0,0,4135	no	intergenic				0,1,6047	TT,TC,CC		0.0,0.0261,0.0083			22616465	1,12095	1913	4135	6048			0							g.chr14:22616465C>T	AE000660		14q11.2	2012-02-07			ENSG00000211809	ENSG00000211809		"""T cell receptors / TRA locus"""	12125	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170656		14.37:g.22616465C>T														0	303	+									RNA	SNP	ENST00000390457.2	37																																																																																						0.488	TRAV27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409904.1	NG_001332		16	29	0	0	0	1	0	16	29				
IGHG1	3500	broad.mit.edu	37	14	106207926	106207926	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106207926G>A	ENST00000390548.2	-	0	876							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TCCACGGTGAGCTTGCTGTAG	0.592																																						ENST00000390548.2																			0																				151.0	106.0	121.0					14																	106207926		1984	4125	6109			0							g.chr14:106207926G>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106207926G>A														0	876	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.592	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		37	109	0	0	0	1	0	37	109				
UNC5CL	222643	broad.mit.edu	37	6	40998181	40998181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40998181C>T	ENST00000373164.1	-	7	1340	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.G427D			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	427	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGTCATTGCCGGTGATGCT	0.577																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1279-1281)gGc>gAc		unc-5 homolog C (C. elegans)-like							85.0	78.0	81.0					6																	40998181		2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40998181C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1280G>A	6.37:g.40998181C>T	ENSP00000362258:p.Gly427Asp					UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.G427D	p.G427D	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			8	1368	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		427			Death.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1280G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118094	0.77323	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	D;D	0.88354	-2.37;-2.37	4.96	4.96	0.65561	Death (3);DEATH-like (2);	0.000000	0.48767	D	0.000166	D	0.90960	0.7158	L	0.49778	1.585	0.45066	D	0.998083	D	0.89917	1.0	D	0.97110	1.0	D	0.91731	0.5396	10	0.72032	D	0.01	-27.9355	13.5655	0.61815	0.0:1.0:0.0:0.0	.	427	Q8IV45	UN5CL_HUMAN	D	427	ENSP00000244565:G427D;ENSP00000362258:G427D	ENSP00000244565:G427D	G	-	2	0	UNC5CL	41106159	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.497000	0.45354	2.573000	0.86826	0.655000	0.94253	GGC		0.577	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		15	24	0	0	0	1	0	15	24				
KIF18B	146909	broad.mit.edu	37	17	43013610	43013610	+	Missense_Mutation	SNP	C	C	T	rs201705917		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43013610C>T	ENST00000593135.1	-	2	200	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KIF18B_ENST00000590129.1_Missense_Mutation_p.E44K|KIF18B_ENST00000339151.4_Missense_Mutation_p.E35K|KIF18B_ENST00000438933.2_Missense_Mutation_p.E35K|KIF18B_ENST00000587309.1_Missense_Mutation_p.E35K	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	44	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGCACCCGCTCGTCCACCACC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		12478	0.0		0.001	False		,,,				2504	0.0					ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(103-105)Gag>Aag		kinesin family member 18B		C	LYS/GLU	0,4232		0,0,2116	14.0	18.0	17.0		103	5.6	0.5	17		17	9,8413		0,9,4202	yes	missense	KIF18B	NM_001080443.1	56	0,9,6318	TT,TC,CC		0.1069,0.0,0.0711	benign	35/856	43013610	9,12645	2116	4211	6327	SO:0001583	missense	146909							g.chr17:43013610C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.103G>A	17.37:g.43013610C>T	ENSP00000465992:p.Glu35Lys					KIF18B_ENST00000593135.1_Missense_Mutation_p.E35K|KIF18B_ENST00000438933.2_Missense_Mutation_p.E35K|KIF18B_ENST00000590129.1_Missense_Mutation_p.E44K|KIF18B_ENST00000339151.4_Missense_Mutation_p.E35K	p.E35K	NM_001264573.1	NP_001251503.1					2	126	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.103G>A	CCDS45709.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.90	2.674166	0.47781	0.0	0.001069	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.67;-0.67	5.61	5.61	0.85477	Kinesin, motor domain (4);	0.000000	0.36972	N	0.002315	T	0.46776	0.1410	N	0.11870	0.19	0.23528	N	0.99749	B;B;B	0.28378	0.209;0.174;0.174	B;B;B	0.26770	0.073;0.043;0.043	T	0.32929	-0.9888	10	0.10111	T	0.7	.	8.5659	0.33538	0.0:0.6528:0.2682:0.079	.	44;44;44	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	K	35	ENSP00000412798:E35K;ENSP00000341466:E35K	ENSP00000341466:E35K	E	-	1	0	KIF18B	40369136	0.112000	0.22096	0.484000	0.27391	0.961000	0.63080	1.196000	0.32198	2.663000	0.90544	0.555000	0.69702	GAG		0.647	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	5	0	0	0	1	0	3	5				
UBE2I	7329	broad.mit.edu	37	16	1370528	1370528	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1370528A>G	ENST00000355803.4	+	6	964				LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000402301.1_Silent_p.A141A|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000325437.5_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000397515.2_Intron	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I						cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGTTAGTAGCAGCCCTGGCCC	0.582																																						ENST00000402301.1																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(421-423)gcA>gcG		ubiquitin-conjugating enzyme E2I							62.0	59.0	60.0					16																	1370528		2199	4300	6499	SO:0001627	intron_variant	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1370528A>G	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.413+10A>G	16.37:g.1370528A>G						LA16c-358B7.3_ENST00000568106.1_RNA|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000397515.2_Intron	p.A141A			P63279	UBC9_HUMAN			5	459	+		Hepatocellular(780;0.00369)	0					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	c.423A>G	CCDS10433.1																																																																																				0.582	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		11	17	0	0	0	1	0	11	17				
PPM1H	57460	broad.mit.edu	37	12	63113990	63113990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:63113990C>T	ENST00000228705.6	-	6	1334	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	345	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CATCTTCTTTCCAAGCTCCTT	0.453																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(1033-1035)gGa>gAa		protein phosphatase, Mg2+/Mn2+ dependent, 1H							173.0	166.0	169.0					12																	63113990		1920	4129	6049	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63113990C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1034G>A	12.37:g.63113990C>T	ENSP00000228705:p.Gly345Glu					PPM1H_ENST00000551214.1_5'UTR	p.G345E	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	6	1334	-			345			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.1034G>A	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783003	0.90282	.	.	ENSG00000111110	ENST00000228705	T	0.24908	1.83	5.13	5.13	0.70059	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.78866	-0.2035	9	.	.	.	-14.0397	18.5925	0.91218	0.0:1.0:0.0:0.0	.	345	Q9ULR3	PPM1H_HUMAN	E	345	ENSP00000228705:G345E	.	G	-	2	0	PPM1H	61400257	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.424000	0.80242	2.389000	0.81357	0.561000	0.74099	GGA		0.453	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		10	104	0	0	0	1	0	10	104				
CLTC	1213	broad.mit.edu	37	17	57746275	57746275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57746275C>T	ENST00000269122.3	+	14	2540	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	CLTC_ENST00000393043.1_Missense_Mutation_p.P756S|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	756	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGCTACGATCCTGAGCGAGT	0.413			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2266-2268)Cct>Tct		clathrin, heavy chain (Hc)							107.0	110.0	109.0					17																	57746275		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57746275C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2266C>T	17.37:g.57746275C>T	ENSP00000269122:p.Pro756Ser					CLTC_ENST00000393043.1_Missense_Mutation_p.P756S|CLTC_ENST00000579456.1_Intron	p.P756S	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			14	2540	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		756			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2266C>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188038	0.94923	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.23552	1.9;1.9	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.89840	3.065	0.80722	D	1	P;P	0.45126	0.851;0.833	P;D	0.66084	0.752;0.941	T	0.66814	-0.5828	10	0.72032	D	0.01	.	19.5824	0.95473	0.0:1.0:0.0:0.0	.	756;756	Q00610;Q00610-2	CLH1_HUMAN;.	S	756	ENSP00000269122:P756S;ENSP00000376763:P756S	ENSP00000269122:P756S	P	+	1	0	CLTC	55101057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.706000	0.92434	0.467000	0.42956	CCT		0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		11	42	0	0	0	1	0	11	42				
KCNA10	3744	broad.mit.edu	37	1	111060704	111060704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060704C>T	ENST00000369771.2	-	1	1093	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	236					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GGCAGTGTCTCCAGGCAGAAG	0.562																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(706-708)Gag>Aag		potassium voltage-gated channel, shaker-related subfamily, member 10							121.0	106.0	111.0					1																	111060704		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060704C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.706G>A	1.37:g.111060704C>T	ENSP00000358786:p.Glu236Lys						p.E236K	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1093	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	236						Missense_Mutation	SNP	ENST00000369771.2	37	c.706G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884610	0.72410	.	.	ENSG00000143105	ENST00000369771	T	0.68624	-0.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	L	0.55103	1.725	0.80722	D	1	D	0.55385	0.971	P	0.47981	0.563	T	0.68685	-0.5343	10	0.87932	D	0	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	236	Q16322	KCA10_HUMAN	K	236	ENSP00000358786:E236K	ENSP00000358786:E236K	E	-	1	0	KCNA10	110862227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GAG		0.562	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		8	76	0	0	0	1	0	8	76				
CELA1	1990	broad.mit.edu	37	12	51736384	51736384	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736384A>G	ENST00000293636.1	-	4	341	c.301T>C	c.(301-303)Tgg>Cgg	p.W101R		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	101	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TCGCTGTTCCAGTATGGATGC	0.582																																						ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(301-303)Tgg>Cgg		chymotrypsin-like elastase family, member 1							186.0	141.0	157.0					12																	51736384		2203	4300	6503	SO:0001583	missense	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51736384A>G		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.301T>C	12.37:g.51736384A>G	ENSP00000293636:p.Trp101Arg						p.W101R	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			4	341	-			101			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	c.301T>C	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085030	0.76642	.	.	ENSG00000139610	ENST00000293636	D	0.92911	-3.13	5.15	5.15	0.70609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94146	0.7401	10	0.72032	D	0.01	-1.396	14.2631	0.66097	1.0:0.0:0.0:0.0	.	101	Q9UNI1	CELA1_HUMAN	R	101	ENSP00000293636:W101R	ENSP00000293636:W101R	W	-	1	0	CELA1	50022651	1.000000	0.71417	0.926000	0.36857	0.739000	0.42172	7.032000	0.76498	2.088000	0.63022	0.459000	0.35465	TGG		0.582	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		11	85	0	0	0	1	0	11	85				
WDR16	146845	broad.mit.edu	37	17	9532104	9532104	+	Missense_Mutation	SNP	G	G	A	rs374339508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9532104G>A	ENST00000352665.5	+	9	1210	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	WDR16_ENST00000299764.5_Missense_Mutation_p.D391N|WDR16_ENST00000396219.3_Missense_Mutation_p.D313N	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGGCATCGACTTCATGAG	0.527																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1141-1143)Gac>Aac		WD repeat domain 16		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	141.0	105.0	117.0		937,1141	5.6	0.7	17		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR16	NM_001080556.1,NM_145054.4	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	313/553,381/621	9532104	1,13005	2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9532104G>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1141G>A	17.37:g.9532104G>A	ENSP00000339449:p.Asp381Asn					WDR16_ENST00000299764.5_Missense_Mutation_p.D391N|WDR16_ENST00000396219.3_Missense_Mutation_p.D313N	p.D381N	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			9	1210	+			381						Missense_Mutation	SNP	ENST00000352665.5	37	c.1141G>A	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685808	0.68157	0.0	1.16E-4	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.41400	1.0;2.76;2.16	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.137039	0.64402	D	0.000004	T	0.39937	0.1097	M	0.69185	2.1	0.44843	D	0.997858	P;P;P	0.50710	0.938;0.857;0.465	B;B;B	0.36030	0.216;0.216;0.067	T	0.38200	-0.9672	10	0.20046	T	0.44	-25.5378	18.4726	0.90779	0.0:0.0:1.0:0.0	.	391;313;381	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	N	381;313;391	ENSP00000339449:D381N;ENSP00000379521:D313N;ENSP00000299764:D391N	ENSP00000299764:D391N	D	+	1	0	WDR16	9472829	1.000000	0.71417	0.732000	0.30844	0.753000	0.42808	5.055000	0.64282	2.637000	0.89404	0.563000	0.77884	GAC		0.527	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		15	35	0	0	0	1	0	15	35				
AVIL	10677	broad.mit.edu	37	12	58193639	58193639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58193639G>A	ENST00000257861.3	-	18	2715	c.2285C>T	c.(2284-2286)gCa>gTa	p.A762V	AVIL_ENST00000537081.1_Missense_Mutation_p.A755V|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000543727.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	762	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAACAGAACTGCTATAGGGTA	0.453																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(2263-2265)gCa>gTa		advillin							158.0	151.0	153.0					12																	58193639		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58193639G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.2285C>T	12.37:g.58193639G>A	ENSP00000257861:p.Ala762Val					TSFM_ENST00000543727.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.A762V|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000550559.1_Intron	p.A755V			O75366	AVIL_HUMAN			18	2263	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		762			HP.|Headpiece (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.2264C>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441665	0.43326	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.14266	2.52;2.52	4.76	2.41	0.29592	Villin headpiece (3);	0.460316	0.23775	N	0.044690	T	0.10337	0.0253	L	0.36672	1.1	0.28180	N	0.928224	B;B	0.13145	0.007;0.006	B;B	0.20955	0.023;0.032	T	0.16630	-1.0396	10	0.49607	T	0.09	-10.7553	6.1128	0.20110	0.0:0.09:0.1726:0.7374	.	755;762	O75366-2;O75366	.;AVIL_HUMAN	V	755;762	ENSP00000443207:A755V;ENSP00000257861:A762V	ENSP00000257861:A762V	A	-	2	0	AVIL	56479906	0.996000	0.38824	0.990000	0.47175	0.924000	0.55760	3.772000	0.55325	0.417000	0.25871	-0.397000	0.06425	GCA		0.453	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		6	139	0	0	0	1	0	6	139				
PCDHGA8	9708	broad.mit.edu	37	5	140773751	140773751	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773751C>A	ENST00000398604.2	+	1	1371	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	457	Cadherin 5. {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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCTCCTACTCAGCGTATA	0.522																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1369-1371)taC>taA									71.0	74.0	73.0					5																	140773751		2096	4242	6338	SO:0001587	stop_gained	0							g.chr5:140773751C>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1371C>A	5.37:g.140773751C>A	ENSP00000381605:p.Tyr457*					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.Y457*	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1371	+								A7MCZ4|O15039	Nonsense_Mutation	SNP	ENST00000398604.2	37	c.1371C>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	18.67	3.673980	0.67928	.	.	ENSG00000253767	ENST00000398604	.	.	.	5.06	1.79	0.24919	.	0.000000	0.29080	U	0.013208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0984	0.42488	0.0:0.682:0.0:0.318	.	.	.	.	X	457	.	ENSP00000381605:Y457X	Y	+	3	2	PCDHGA8	140753935	0.003000	0.15002	1.000000	0.80357	0.453000	0.32348	0.038000	0.13862	0.537000	0.28751	0.655000	0.94253	TAC		0.522	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		3	22	1	0	0.115264	1	0.117355	3	22				
LZTS1	11178	broad.mit.edu	37	8	20110344	20110344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110344G>A	ENST00000381569.1	-	3	1455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	LZTS1_ENST00000522290.1_Silent_p.Y366Y|LZTS1_ENST00000265801.6_Silent_p.Y366Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	366					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTCCCTCTCGTAGGACCTGA	0.642																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1096-1098)taC>taT		leucine zipper, putative tumor suppressor 1							35.0	36.0	36.0					8																	20110344		2203	4300	6503	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110344G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1098C>T	8.37:g.20110344G>A						LZTS1_ENST00000265801.6_Silent_p.Y366Y|LZTS1_ENST00000522290.1_Silent_p.Y366Y	p.Y366Y			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1455	-			366					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.1098C>T	CCDS6015.1																																																																																				0.642	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		18	18	0	0	0	1	0	18	18				
DDX18	8886	broad.mit.edu	37	2	118577331	118577331	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:118577331T>C	ENST00000263239.2	+	3	605	c.477T>C	c.(475-477)gaT>gaC	p.D159D	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	159					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATGAAGATGAGAGTGAGG	0.403											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(475-477)gaT>gaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							80.0	81.0	81.0					2																	118577331		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118577331T>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.477T>C	2.37:g.118577331T>C			OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1489	DDX18_ENST00000474694.1_3'UTR	p.D159D	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			3	605	+			159					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.477T>C	CCDS2120.1																																																																																				0.403	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		15	21	0	0	0	1	0	15	21				
PRRC2A	7916	broad.mit.edu	37	6	31600228	31600228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31600228C>T	ENST00000376033.2	+	16	4012	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L	PRRC2A_ENST00000376007.4_Silent_p.L1260L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1260	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTCCGGAGGCTGAAGCAGGA	0.622																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(3778-3780)Ctg>Ttg		proline-rich coiled-coil 2A							79.0	84.0	82.0					6																	31600228		1511	2709	4220	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31600228C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3778C>T	6.37:g.31600228C>T						PRRC2A_ENST00000376007.4_Silent_p.L1260L	p.L1260L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	4012	+			1260			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.3778C>T	CCDS4708.1																																																																																				0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		6	58	0	0	0	1	0	6	58				
OR6F1	343169	broad.mit.edu	37	1	247875949	247875949	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247875949G>T	ENST00000302084.2	-	1	156	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTAACTGTGAGGATGTACATC	0.468																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(109-111)Ctc>Atc		olfactory receptor, family 6, subfamily F, member 1							148.0	145.0	146.0					1																	247875949		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875949G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.109C>A	1.37:g.247875949G>T	ENSP00000305640:p.Leu37Ile					RP11-634B7.4_ENST00000449298.1_RNA	p.L37I	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	156	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		37					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.109C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093810	0.20471	.	.	ENSG00000169214	ENST00000302084	T	0.00417	7.5	3.82	3.82	0.43975	.	0.000000	0.39407	N	0.001367	T	0.00496	0.0016	N	0.20986	0.625	0.09310	N	1	D	0.69078	0.997	D	0.78314	0.991	T	0.60214	-0.7307	10	0.56958	D	0.05	-43.6436	7.0173	0.24895	0.0:0.1878:0.6188:0.1934	.	37	Q8NGZ6	OR6F1_HUMAN	I	37	ENSP00000305640:L37I	ENSP00000305640:L37I	L	-	1	0	OR6F1	245942572	0.000000	0.05858	0.215000	0.23724	0.076000	0.17211	-1.513000	0.02256	2.122000	0.65172	0.467000	0.42956	CTC		0.468	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		59	93	1	0	3.53049e-34	1	4.7453e-34	59	93				
ASCC3	10973	broad.mit.edu	37	6	101247437	101247437	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101247437A>C	ENST00000369162.2	-	7	1483	c.1139T>G	c.(1138-1140)cTt>cGt	p.L380R	ASCC3_ENST00000522650.1_Missense_Mutation_p.L380R	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	380					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCATTCAGAAGTGCCTGTTC	0.378																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(1138-1140)cTt>cGt		activating signal cointegrator 1 complex subunit 3							87.0	84.0	85.0					6																	101247437		2202	4300	6502	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101247437A>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1139T>G	6.37:g.101247437A>C	ENSP00000358159:p.Leu380Arg					ASCC3_ENST00000522650.1_Missense_Mutation_p.L380R	p.L380R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	7	1483	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	380					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1139T>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.416253	0.62511	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.62941	0.23;-0.01	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.61974	0.2390	M	0.72894	2.215	0.80722	D	1	B;D	0.54964	0.264;0.969	B;P	0.53035	0.341;0.716	T	0.61387	-0.7073	10	0.23302	T	0.38	.	15.5888	0.76510	1.0:0.0:0.0:0.0	.	380;380	E7EW23;Q8N3C0	.;HELC1_HUMAN	R	380	ENSP00000358159:L380R;ENSP00000430769:L380R	ENSP00000358159:L380R	L	-	2	0	ASCC3	101354158	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	8.571000	0.90752	2.086000	0.62901	0.383000	0.25322	CTT		0.378	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		4	44	0	0	0	1	0	4	44				
DYNC1I1	1780	broad.mit.edu	37	7	95665036	95665036	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95665036A>G	ENST00000324972.6	+	13	1580	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T443A|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T426A|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T446A|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T426A|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T446A	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	463					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGAGGAAGGTACAGTCTACAC	0.448																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1387-1389)Aca>Gca		dynein, cytoplasmic 1, intermediate chain 1							351.0	286.0	308.0					7																	95665036		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665036A>G	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1387A>G	7.37:g.95665036A>G	ENSP00000320130:p.Thr463Ala					DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T446A|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T443A|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T426A|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T426A|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T446A	p.T463A	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1580	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		463					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1387A>G	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	A	9.462	1.093393	0.20471	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101904	0.64402	D	0.000003	T	0.06280	0.0162	N	0.22421	0.69	0.47341	D	0.999395	B;B;B;B;B	0.13145	0.002;0.004;0.004;0.002;0.007	B;B;B;B;B	0.15052	0.002;0.006;0.006;0.002;0.012	T	0.20140	-1.0284	10	0.07644	T	0.81	-2.3813	15.3616	0.74478	1.0:0.0:0.0:0.0	.	446;443;446;463;426	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	A	446;463;426;443;426;446	ENSP00000392337:T446A;ENSP00000320130:T463A;ENSP00000438377:T426A;ENSP00000398118:T443A;ENSP00000352348:T426A;ENSP00000412444:T446A	ENSP00000320130:T463A	T	+	1	0	DYNC1I1	95502972	0.978000	0.34361	0.605000	0.28930	0.619000	0.37552	3.067000	0.50010	2.283000	0.76528	0.477000	0.44152	ACA		0.448	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		139	111	0	0	0	1	0	139	111				
CHMP6	79643	broad.mit.edu	37	17	78971129	78971129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78971129C>T	ENST00000325167.5	+	6	561	c.483C>T	c.(481-483)agC>agT	p.S161S	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	161					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGAGCTGAGCGCAATCACTC	0.627																																						ENST00000325167.5																			0				lung(2)|ovary(1)	3						c.(481-483)agC>agT		charged multivesicular body protein 6							39.0	35.0	36.0					17																	78971129		2203	4300	6503	SO:0001819	synonymous_variant	79643				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	g.chr17:78971129C>T	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.483C>T	17.37:g.78971129C>T							p.S161S	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		6	561	+	all_neural(118;0.101)		161					A8K7U0|Q53FU4|Q9HAE8	Silent	SNP	ENST00000325167.5	37	c.483C>T	CCDS11774.1																																																																																				0.627	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1	NM_024591		13	4	0	0	0	1	0	13	4				
MGA	23269	broad.mit.edu	37	15	42042025	42042025	+	Missense_Mutation	SNP	C	C	T	rs199971244		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042025C>T	ENST00000570161.1	+	16	6220	c.6220C>T	c.(6220-6222)Cgt>Tgt	p.R2074C	MGA_ENST00000566586.1_Missense_Mutation_p.R1865C|MGA_ENST00000545763.1_Missense_Mutation_p.R1865C|MGA_ENST00000219905.7_Missense_Mutation_p.R2074C|MGA_ENST00000389936.4_Missense_Mutation_p.R2035C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCTAGGAATCGTAAGAGTTC	0.378																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6220-6222)Cgt>Tgt		MGA, MAX dimerization protein		C	CYS/ARG,CYS/ARG	0,3682		0,0,1841	86.0	83.0	84.0		5593,6220	0.2	0.0	15		84	2,8188		0,2,4093	yes	missense,missense	MGA	NM_001080541.2,NM_001164273.1	180,180	0,2,5934	TT,TC,CC		0.0244,0.0,0.0168	possibly-damaging,possibly-damaging	1865/2857,2074/3066	42042025	2,11870	1841	4095	5936	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042025C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6220C>T	15.37:g.42042025C>T	ENSP00000457035:p.Arg2074Cys					MGA_ENST00000389936.4_Missense_Mutation_p.R2035C|MGA_ENST00000566586.1_Missense_Mutation_p.R1865C|MGA_ENST00000570161.1_Missense_Mutation_p.R2074C|MGA_ENST00000545763.1_Missense_Mutation_p.R1865C	p.R2074C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6401	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2035					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.6220C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	2.033	-0.421912	0.04734	0.0	2.44E-4	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83992	-1.79;-1.78;-1.78	4.64	0.246	0.15516	.	2.379390	0.01579	N	0.020986	T	0.65657	0.2712	N	0.08118	0	0.09310	N	1	P;P;P;P	0.46327	0.561;0.688;0.876;0.876	B;B;B;B	0.37780	0.132;0.258;0.232;0.232	T	0.63065	-0.6720	10	0.87932	D	0	.	3.4848	0.07615	0.1228:0.3631:0.3605:0.1537	.	690;1865;2074;2035	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	C	2074;2035;1865	ENSP00000219905:R2074C;ENSP00000374586:R2035C;ENSP00000442467:R1865C	ENSP00000219905:R2074C	R	+	1	0	MGA	39829317	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.172000	0.16704	0.180000	0.19960	0.467000	0.42956	CGT		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		25	40	0	0	0	1	0	25	40				
ANK3	288	broad.mit.edu	37	10	61835998	61835998	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61835998A>G	ENST00000280772.2	-	37	4832	c.4641T>C	c.(4639-4641)tcT>tcC	p.S1547S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1547	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTTGATTGGAGAAGGTGTCG	0.448																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4639-4641)tcT>tcC		ankyrin 3, node of Ranvier (ankyrin G)							199.0	174.0	183.0					10																	61835998		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835998A>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4641T>C	10.37:g.61835998A>G						ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.S1547S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	4832	-			1547			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4641T>C	CCDS7258.1																																																																																				0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		16	129	0	0	0	1	0	16	129				
IGSF3	3321	broad.mit.edu	37	1	117150586	117150586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117150586G>A	ENST00000369486.3	-	5	1965	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	IGSF3_ENST00000318837.6_Silent_p.I400I|IGSF3_ENST00000369483.1_Silent_p.I400I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	400					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTATGATGGGGATGTTCTTGG	0.512																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1198-1200)atC>atT		immunoglobulin superfamily, member 3							102.0	111.0	108.0					1																	117150586		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150586G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1200C>T	1.37:g.117150586G>A						IGSF3_ENST00000369483.1_Silent_p.I400I|IGSF3_ENST00000318837.6_Silent_p.I400I	p.I400I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1965	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	400					A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.1200C>T	CCDS30813.1																																																																																				0.512	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		6	100	0	0	0	1	0	6	100				
CPSF4	10898	broad.mit.edu	37	7	99048353	99048353	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99048353G>T	ENST00000292476.5	+	5	442	c.432G>T	c.(430-432)cgG>cgT	p.R144R	CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000451876.1_Silent_p.R112R|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Silent_p.R144R|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000441580.1_Silent_p.R91R|PTCD1_ENST00000555673.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	144					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGCACACACGGAGAGTCATCT	0.572																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(430-432)cgG>cgT		cleavage and polyadenylation specific factor 4, 30kDa							83.0	91.0	88.0					7																	99048353		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99048353G>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.432G>T	7.37:g.99048353G>T						CPSF4_ENST00000441580.1_Silent_p.R91R|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.R112R|CPSF4_ENST00000292476.5_Silent_p.R144R|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron	p.R144R	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			5	593	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		144					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.432G>T	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318766	0.23994	.	.	ENSG00000160917	ENST00000440514	.	.	.	5.54	2.66	0.31614	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.6906	6.3863	0.21561	0.2013:0.2463:0.5524:0.0	.	.	.	.	X	26	.	.	E	+	1	0	CPSF4	98886289	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.151000	0.31651	0.263000	0.21812	-0.165000	0.13383	GAG		0.572	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			5	95	1	0	0.00307968	1	0.00325696	5	95				
KAT8	84148	broad.mit.edu	37	16	31131666	31131666	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31131666G>A	ENST00000543774.2	+	4	628	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000219797.4_Missense_Mutation_p.R98Q|KAT8_ENST00000448516.2_Missense_Mutation_p.R98Q			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	98	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.R98Q(1)									ACAGTTAACCGGCGGCTGGAC	0.577																																						ENST00000543774.2																			1	Substitution - Missense(1)	p.R98Q(1)	prostate(1)								c.(292-294)cGg>cAg		K(lysine) acetyltransferase 8							76.0	73.0	74.0					16																	31131666		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31131666G>A	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.293G>A	16.37:g.31131666G>A	ENSP00000456933:p.Arg98Gln					KAT8_ENST00000448516.2_Missense_Mutation_p.R98Q|KAT8_ENST00000219797.4_Missense_Mutation_p.R98Q	p.R98Q			Q9H7Z6	MYST1_HUMAN			4	628	+			98			Chromo.		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.293G>A	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457267	0.96223	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.48836	0.8;0.8	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.71185	-0.4667	10	0.87932	D	0	-33.3908	18.8899	0.92395	0.0:0.0:1.0:0.0	.	98;98	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	Q	98	ENSP00000219797:R98Q;ENSP00000406037:R98Q	ENSP00000219797:R98Q	R	+	2	0	KAT8	31039167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.236000	0.72339	2.769000	0.95229	0.655000	0.94253	CGG		0.577	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		19	36	0	0	0	1	0	19	36				
C11orf42	160298	broad.mit.edu	37	11	6231582	6231582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6231582C>T	ENST00000316375.2	+	2	625	c.575C>T	c.(574-576)cCt>cTt	p.P192L	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	192										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTCATTACCTGTTGCCTTC	0.567																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.(574-576)cCt>cTt		chromosome 11 open reading frame 42							76.0	84.0	82.0					11																	6231582		2201	4296	6497	SO:0001583	missense	160298							g.chr11:6231582C>T	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.575C>T	11.37:g.6231582C>T	ENSP00000321021:p.Pro192Leu						p.P192L	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	625	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	192						Missense_Mutation	SNP	ENST00000316375.2	37	c.575C>T	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671382	0.29693	.	.	ENSG00000180878	ENST00000316375	T	0.49139	0.79	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000031	T	0.54679	0.1873	N	0.24115	0.695	0.49798	D	0.999826	D	0.89917	1.0	D	0.87578	0.998	T	0.58538	-0.7619	10	0.87932	D	0	-5.1756	13.9474	0.64094	0.0:1.0:0.0:0.0	.	192	Q8N5U0	CK042_HUMAN	L	192	ENSP00000321021:P192L	ENSP00000321021:P192L	P	+	2	0	C11orf42	6188158	0.996000	0.38824	1.000000	0.80357	0.711000	0.40976	3.791000	0.55469	2.673000	0.90976	0.585000	0.79938	CCT		0.567	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		7	87	0	0	0	1	0	7	87				
CCDC157	550631	broad.mit.edu	37	22	30766567	30766567	+	Missense_Mutation	SNP	G	G	A	rs140264936	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30766567G>A	ENST00000405659.1	+	5	1382	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CCDC157_ENST00000338306.3_Missense_Mutation_p.A225T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	225										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGACGCATGCGCCAGCGTCCA	0.612																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(673-675)Gcc>Acc		coiled-coil domain containing 157		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	84.0	72.0	76.0		673	-2.5	0.0	22	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC157	NM_001017437.2	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	225/753	30766567	2,13004	2203	4300	6503	SO:0001583	missense	550631							g.chr22:30766567G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.673G>A	22.37:g.30766567G>A	ENSP00000385357:p.Ala225Thr					CCDC157_ENST00000338306.3_Missense_Mutation_p.A225T	p.A225T			Q569K6	CC157_HUMAN			5	1382	+			225					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.673G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	1.433	-0.569670	0.03910	2.27E-4	1.16E-4	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.22743	1.94;1.94	5.54	-2.52	0.06346	.	0.736194	0.13344	N	0.394957	T	0.05547	0.0146	N	0.01277	-0.915	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.43261	-0.9402	10	0.12103	T	0.63	-11.8275	9.3809	0.38313	0.1949:0.0:0.5828:0.2223	.	225	Q569K6	CC157_HUMAN	T	225	ENSP00000385357:A225T;ENSP00000343087:A225T	ENSP00000343087:A225T	A	+	1	0	CCDC157	29096567	0.009000	0.17119	0.046000	0.18839	0.138000	0.21146	0.260000	0.18424	-0.399000	0.07668	-0.302000	0.09304	GCC		0.612	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		14	48	0	0	0	1	0	14	48				
GPRASP2	114928	broad.mit.edu	37	X	101971015	101971015	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971015C>A	ENST00000535209.1	+	4	2049	c.1218C>A	c.(1216-1218)atC>atA	p.I406I	GPRASP2_ENST00000543253.1_Silent_p.I406I|GPRASP2_ENST00000332262.5_Silent_p.I406I			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	406						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1216-1218)atC>atA		G protein-coupled receptor associated sorting protein 2							61.0	64.0	63.0					X																	101971015		2203	4300	6503	SO:0001819	synonymous_variant	114928							g.chrX:101971015C>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1218C>A	X.37:g.101971015C>A						GPRASP2_ENST00000535209.1_Silent_p.I406I|GPRASP2_ENST00000332262.5_Silent_p.I406I	p.I406I	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2137	+								D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.1218C>A	CCDS14501.1																																																																																				0.547	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		8	89	1	0	0.000673444	1	0.000724755	8	89				
KIAA1522	57648	broad.mit.edu	37	1	33237550	33237550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33237550C>T	ENST00000373480.1	+	6	2696	c.2593C>T	c.(2593-2595)Cct>Tct	p.P865S	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.P924S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P876S	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	865	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGCCCAGTGCCTGCCCCCTC	0.706																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2770-2772)Cct>Tct		KIAA1522							9.0	10.0	10.0					1																	33237550		1862	4054	5916	SO:0001583	missense	57648							g.chr1:33237550C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2593C>T	1.37:g.33237550C>T	ENSP00000362579:p.Pro865Ser					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P876S|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P865S	p.P924S	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2840	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	865			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.2770C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.994636	0.00435	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.11495	2.77;2.77;2.78	4.45	-1.82	0.07857	.	0.837859	0.10540	N	0.662746	T	0.05410	0.0143	N	0.16903	0.455	0.09310	N	0.999995	B;B;B	0.15473	0.005;0.005;0.013	B;B;B	0.14578	0.007;0.007;0.011	T	0.41980	-0.9478	10	0.27082	T	0.32	0.1785	5.0342	0.14426	0.2421:0.5321:0.0:0.2258	.	876;865;924	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	S	924;876;865	ENSP00000383851:P924S;ENSP00000362580:P876S;ENSP00000362579:P865S	ENSP00000362579:P865S	P	+	1	0	KIAA1522	33010137	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.990000	0.03732	-0.418000	0.07450	-0.157000	0.13467	CCT		0.706	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			4	7	0	0	0	1	0	4	7				
MRC2	9902	broad.mit.edu	37	17	60749358	60749358	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60749358G>T	ENST00000303375.5	+	8	1708		c.e8-1			NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGCACCCCCAGAGGTGGAGGA	0.557																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.e8-1		mannose receptor, C type 2							78.0	80.0	79.0					17																	60749358		2203	4300	6503	SO:0001630	splice_region_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60749358G>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1307-1G>T	17.37:g.60749358G>T								NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			8	1708	+								A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Splice_Site	SNP	ENST00000303375.5	37		CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468792	0.63625	.	.	ENSG00000011028	ENST00000303375	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.877	0.88828	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRC2	58103090	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.497000	0.97970	2.209000	0.71365	0.462000	0.41574	.		0.557	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		Intron	5	84	1	0	3.59834e-05	1	4.01776e-05	5	84				
IRF8	3394	broad.mit.edu	37	16	85942776	85942776	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942776A>C	ENST00000268638.5	+	3	777	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	IRF8_ENST00000563180.1_Missense_Mutation_p.K119Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	119					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAAGAGCAAAAATGTAACTA	0.493																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(355-357)Aaa>Caa		interferon regulatory factor 8							48.0	46.0	47.0					16																	85942776		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85942776A>C	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.355A>C	16.37:g.85942776A>C	ENSP00000268638:p.Lys119Gln					IRF8_ENST00000563180.1_Missense_Mutation_p.K119Q	p.K119Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			3	777	+		Prostate(104;0.0771)	119					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.355A>C	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329127	0.81690	.	.	ENSG00000140968	ENST00000268638	D	0.97256	-4.31	5.27	5.27	0.74061	.	0.117090	0.56097	D	0.000035	D	0.97123	0.9060	L	0.53249	1.67	0.80722	D	1	D;D	0.65815	0.995;0.983	P;P	0.61328	0.886;0.887	D	0.96063	0.9040	10	0.15952	T	0.53	-15.9373	15.1959	0.73088	1.0:0.0:0.0:0.0	.	119;119	B2R8V7;Q02556	.;IRF8_HUMAN	Q	119	ENSP00000268638:K119Q	ENSP00000268638:K119Q	K	+	1	0	IRF8	84500277	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	8.802000	0.91910	2.011000	0.59026	0.454000	0.30748	AAA		0.493	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		3	28	0	0	0	1	0	3	28				
MCM3AP	8888	broad.mit.edu	37	21	47692609	47692609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47692609C>A	ENST00000397708.1	-	9	2585	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E777D			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	777	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGTCATGTTCTCATTATTGA	0.527																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2329-2331)gaG>gaT		minichromosome maintenance complex component 3 associated protein							169.0	152.0	158.0					21																	47692609		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47692609C>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2331G>T	21.37:g.47692609C>A	ENSP00000380820:p.Glu777Asp					MCM3AP_ENST00000291688.1_Missense_Mutation_p.E777D	p.E777D			O60318	MCM3A_HUMAN			9	2585	-	Breast(49;0.112)		777					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.2331G>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222892	0.79464	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.35236	1.32;1.32	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.85197	2.74	0.58432	D	0.999998	P	0.51147	0.942	D	0.66602	0.945	T	0.65492	-0.6155	10	0.72032	D	0.01	-34.8814	12.7334	0.57210	0.0:0.8714:0.0:0.1286	.	777	O60318	MCM3A_HUMAN	D	777	ENSP00000380820:E777D;ENSP00000291688:E777D	ENSP00000291688:E777D	E	-	3	2	MCM3AP	46517037	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.859000	0.55987	2.826000	0.97356	0.655000	0.94253	GAG		0.527	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		52	76	1	0	3.19069e-20	1	4.18589e-20	52	76				
OR52D1	390066	broad.mit.edu	37	11	5510000	5510000	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5510000G>T	ENST00000322641.5	+	1	86	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	22					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGATCCCAGGGCTGGAGGC	0.488																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(64-66)Ggg>Tgg		olfactory receptor, family 52, subfamily D, member 1							151.0	137.0	142.0					11																	5510000		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510000G>T	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.64G>T	11.37:g.5510000G>T	ENSP00000326232:p.Gly22Trp					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	p.G22W	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	86	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	22					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.64G>T	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331636	0.60853	.	.	ENSG00000181609	ENST00000322641	T	0.00662	5.93	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000005	T	0.11024	0.0269	H	0.98802	4.335	0.37751	D	0.925979	D	0.89917	1.0	D	0.87578	0.998	T	0.15122	-1.0448	10	0.87932	D	0	.	17.8504	0.88746	0.0:0.0:1.0:0.0	.	22	Q9H346	O52D1_HUMAN	W	22	ENSP00000326232:G22W	ENSP00000326232:G22W	G	+	1	0	OR52D1	5466576	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	6.073000	0.71245	2.797000	0.96272	0.650000	0.86243	GGG		0.488	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		6	91	1	0	3.59834e-05	1	4.01776e-05	6	91				
PPP2CA	5515	broad.mit.edu	37	5	133536734	133536734	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133536734G>T	ENST00000481195.1	-	4	798	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	CTD-2410N18.5_ENST00000519718.1_Intron|PPP2CA_ENST00000231504.5_5'Flank	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	173					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TGTATCTATAGATGGCGAGAG	0.373																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(517-519)tCt>tAt		protein phosphatase 2, catalytic subunit, alpha isozyme							110.0	109.0	110.0					5																	133536734		2203	4300	6503	SO:0001583	missense	5515							g.chr5:133536734G>T		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.518C>A	5.37:g.133536734G>T	ENSP00000418447:p.Ser173Tyr						p.S173Y	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	798	-								P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	c.518C>A	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151483	0.78001	.	.	ENSG00000113575	ENST00000481195;ENST00000522385	T;T	0.26223	1.75;3.38	5.24	5.24	0.73138	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.73319	2.225	0.80722	D	1	B	0.32040	0.353	B	0.31245	0.126	T	0.27773	-1.0064	10	0.87932	D	0	-3.4379	19.1921	0.93671	0.0:0.0:1.0:0.0	.	173	P67775	PP2AA_HUMAN	Y	173;108	ENSP00000418447:S173Y;ENSP00000430869:S108Y	ENSP00000418447:S173Y	S	-	2	0	PPP2CA	133564633	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.801000	0.99128	2.607000	0.88179	0.585000	0.79938	TCT		0.373	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		29	48	1	0	3.11337e-16	1	4.01248e-16	29	48				
ZNF598	90850	broad.mit.edu	37	16	2051688	2051688	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2051688G>A	ENST00000563630.1	-	6	986	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF598_ENST00000431526.1_Silent_p.G303G|ZNF598_ENST00000562103.1_Silent_p.G248G			Q86UK7	ZN598_HUMAN	zinc finger protein 598	303							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTAGTCTTCGCCACCAACGA	0.692																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(742-744)ggC>ggT		zinc finger protein 598							24.0	29.0	27.0					16																	2051688		2064	4195	6259	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2051688G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.744C>T	16.37:g.2051688G>A						ZNF598_ENST00000562103.1_Silent_p.G248G|ZNF598_ENST00000431526.1_Silent_p.G303G	p.G248G			Q86UK7	ZN598_HUMAN			6	986	-			303					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.744C>T																																																																																					0.692	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		9	14	0	0	0	1	0	9	14				
NRP1	8829	broad.mit.edu	37	10	33475278	33475278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33475278C>A	ENST00000265371.4	-	15	2726	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	NRP1_ENST00000374867.2_Missense_Mutation_p.G734V|NRP1_ENST00000374875.1_Missense_Mutation_p.G546V|NRP1_ENST00000395995.1_Missense_Mutation_p.G734V			O14786	NRP1_HUMAN	neuropilin 1	734	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTGAGTGTGCCGACGTGGGA	0.572																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2200-2202)gGc>gTc		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						138.0	94.0	109.0					10																	33475278		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33475278C>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2201G>T	10.37:g.33475278C>A	ENSP00000265371:p.Gly734Val					NRP1_ENST00000374867.2_Missense_Mutation_p.G734V|NRP1_ENST00000395995.1_Missense_Mutation_p.G734V	p.G734V			O14786	NRP1_HUMAN			15	2726	-			734			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2201G>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014049	0.35511	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.37549	-0.9701	10	0.02654	T	1	-27.6914	20.2985	0.98592	0.0:1.0:0.0:0.0	.	728;734;734;546;734	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	V	734;546;734;734	ENSP00000265371:G734V;ENSP00000364009:G546V;ENSP00000364001:G734V;ENSP00000379317:G734V	ENSP00000265371:G734V	G	-	2	0	NRP1	33515284	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	GGC		0.572	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			19	23	1	0	6.94344e-10	1	8.49476e-10	19	23				
PLXNA2	5362	broad.mit.edu	37	1	208219374	208219374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208219374C>T	ENST00000367033.3	-	18	4101	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1115	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCATCTGGGCGTTCCACAGT	0.493																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3343-3345)cGc>cAc		plexin A2							145.0	138.0	141.0					1																	208219374		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208219374C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3344G>A	1.37:g.208219374C>T	ENSP00000356000:p.Arg1115His						p.R1115H	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	18	4101	-			1115			IPT/TIG 3.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3344G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968560	0.34754	.	.	ENSG00000076356	ENST00000367033	T	0.58797	0.31	4.34	4.34	0.51931	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.053822	0.64402	D	0.000001	T	0.41719	0.1171	N	0.17278	0.47	0.54753	D	0.999985	B	0.16802	0.019	B	0.10450	0.005	T	0.25082	-1.0142	10	0.17832	T	0.49	.	17.2333	0.86991	0.0:1.0:0.0:0.0	.	1115	O75051	PLXA2_HUMAN	H	1115	ENSP00000356000:R1115H	ENSP00000356000:R1115H	R	-	2	0	PLXNA2	206285997	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	5.651000	0.67951	2.138000	0.66242	0.563000	0.77884	CGC		0.493	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		8	62	0	0	0	1	0	8	62				
SLCO4C1	353189	broad.mit.edu	37	5	101592827	101592827	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101592827T>C	ENST00000310954.6	-	8	1747	c.1461A>G	c.(1459-1461)tcA>tcG	p.S487S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACCCATTATATGATTCAGATA	0.338																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1459-1461)tcA>tcG		solute carrier organic anion transporter family, member 4C1							73.0	70.0	71.0					5																	101592827		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101592827T>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1461A>G	5.37:g.101592827T>C							p.S487S	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1747	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	487						Silent	SNP	ENST00000310954.6	37	c.1461A>G	CCDS34205.1																																																																																				0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		14	35	0	0	0	1	0	14	35				
PIP4K2A	5305	broad.mit.edu	37	10	22839649	22839649	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22839649T>G	ENST00000376573.4	-	7	959	c.731A>C	c.(730-732)aAg>aCg	p.K244T	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K185T|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.K104T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	244	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AATATAAATCTTTTGGCCCTC	0.363											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(730-732)aAg>aCg		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							185.0	180.0	182.0					10																	22839649		2202	4300	6502	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22839649T>G	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.731A>C	10.37:g.22839649T>G	ENSP00000365757:p.Lys244Thr		OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.K104T|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K185T	p.K244T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			7	959	-			244			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.731A>C	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760338	0.89932	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.30182	1.54;1.54;1.54	6.07	6.07	0.98685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.76002	2.32	0.80722	D	1	P;P	0.51057	0.904;0.941	P;P	0.59546	0.792;0.859	T	0.49331	-0.8951	10	0.36615	T	0.2	-39.7411	16.6277	0.84984	0.0:0.0:0.0:1.0	.	104;244	B4DH09;P48426	.;PI42A_HUMAN	T	244;104;185	ENSP00000365757:K244T;ENSP00000326294:K104T;ENSP00000442098:K185T	ENSP00000326294:K104T	K	-	2	0	PIP4K2A	22879655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.671000	0.83941	2.330000	0.79161	0.528000	0.53228	AAG		0.363	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		17	126	0	0	0	1	0	17	126				
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	G	A	rs200144297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.001		0.0	False		,,,				2504	0.0					ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(133-135)tcG>tcA		leucine rich repeat containing 49							90.0	86.0	88.0					15																	71188217		2199	4297	6496	SO:0001819	synonymous_variant	54839					cytoplasm|microtubule		g.chr15:71188217G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.135G>A	15.37:g.71188217G>A						LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000544974.2_Silent_p.S35S	p.S45S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			3	395	+			45					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Silent	SNP	ENST00000260382.5	37	c.135G>A	CCDS32282.1																																																																																				0.323	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		26	28	0	0	0	1	0	26	28				
ANKS1A	23294	broad.mit.edu	37	6	35046375	35046375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35046375G>A	ENST00000360359.3	+	14	2363	c.2225G>A	c.(2224-2226)gGc>gAc	p.G742D	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	742	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGGGACATCGGCATCAGCGAC	0.657																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2224-2226)gGc>gAc		ankyrin repeat and sterile alpha motif domain containing 1A							116.0	115.0	115.0					6																	35046375		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:35046375G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2225G>A	6.37:g.35046375G>A	ENSP00000353518:p.Gly742Asp					ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR	p.G742D	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			14	2363	+			742			SAM 1.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.2225G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749816	0.69533	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	D	0.91792	-2.91	4.94	4.94	0.65067	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.146280	0.31061	N	0.008322	D	0.96516	0.8863	M	0.90650	3.135	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.973	D;D;D	0.78314	0.99;0.991;0.926	D	0.97383	0.9984	10	0.87932	D	0	-22.6252	17.7727	0.88497	0.0:0.0:1.0:0.0	.	68;68;742	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	D	742;68	ENSP00000353518:G742D	ENSP00000353518:G742D	G	+	2	0	ANKS1A	35154353	1.000000	0.71417	0.994000	0.49952	0.078000	0.17371	9.707000	0.98725	2.265000	0.75225	0.655000	0.94253	GGC		0.657	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		4	91	0	0	0	1	0	4	91				
CHD5	26038	broad.mit.edu	37	1	6171834	6171834	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6171834C>T	ENST00000262450.3	-	36	5349		c.e36+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAAGGATACGTCACGATGC	0.647																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.e36+1		chromodomain helicase DNA binding protein 5							41.0	44.0	43.0					1																	6171834		2203	4300	6503	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6171834C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5249+1G>A	1.37:g.6171834C>T						CHD5_ENST00000378021.1_Splice_Site		NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	36	5349	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)						A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	37		CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834692	0.91036	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1686	0.89737	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6094421	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.705000	0.84606	2.346000	0.79739	0.561000	0.74099	.		0.647	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	Intron	5	24	0	0	0	1	0	5	24				
CCT8	10694	broad.mit.edu	37	21	30426427	30426427	+	IGR	SNP	C	C	T	rs146396744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30426427C>T	ENST00000286788.4	-	0	2005				USP16_ENST00000399976.2_Silent_p.S797S|USP16_ENST00000334352.4_Silent_p.S797S|CCT8_ENST00000470450.1_5'Flank|USP16_ENST00000399975.3_Silent_p.S796S|USP16_ENST00000535828.1_Silent_p.S426S	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTCACATCAGCGACACACATG	0.338																																						ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(2389-2391)agC>agT		ubiquitin specific peptidase 16		C	,,	1,4405	2.1+/-5.4	0,1,2202	90.0	88.0	89.0		2388,2391,2391	-2.3	1.0	21	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	USP16	NM_001001992.1,NM_001032410.1,NM_006447.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	796/823,797/824,797/824	30426427	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30426427C>T	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595		21.37:g.30426427C>T						USP16_ENST00000399976.2_Silent_p.S797S|USP16_ENST00000399975.3_Silent_p.S796S|USP16_ENST00000535828.1_Silent_p.S426S	p.S797S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			19	2622	+			797					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.2391C>T	CCDS33528.1																																																																																				0.338	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			24	52	0	0	0	1	0	24	52				
SLC18B1	116843	broad.mit.edu	37	6	133111381	133111381	+	Missense_Mutation	SNP	T	T	A	rs368296063		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133111381T>A	ENST00000275227.4	-	3	310	c.214A>T	c.(214-216)Atc>Ttc	p.I72F	SLC18B1_ENST00000367918.1_Missense_Mutation_p.I72F|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	72					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											ATCATACCGATAATTGTATTG	0.308																																						ENST00000275227.4																			0											c.(214-216)Atc>Ttc		solute carrier family 18, subfamily B, member 1							75.0	72.0	73.0					6																	133111381		2197	4295	6492	SO:0001583	missense	116843				transmembrane transport	integral to membrane		g.chr6:133111381T>A	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.214A>T	6.37:g.133111381T>A	ENSP00000275227:p.Ile72Phe					SLC18B1_ENST00000367918.1_Missense_Mutation_p.I72F|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_5'UTR	p.I72F	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN			3	310	-			72					A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.214A>T	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.353419	0.41700	.	.	ENSG00000146409	ENST00000367919;ENST00000275227;ENST00000367918	T;T	0.60548	0.22;0.18	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.171726	0.51477	D	0.000096	T	0.59945	0.2231	M	0.84326	2.69	0.80722	D	1	P	0.49447	0.924	P	0.52710	0.707	T	0.68758	-0.5324	10	0.72032	D	0.01	-8.5277	8.187	0.31346	0.0:0.1274:0.0:0.8726	.	72	Q6NT16	CF192_HUMAN	F	72	ENSP00000275227:I72F;ENSP00000356895:I72F	ENSP00000275227:I72F	I	-	1	0	C6orf192	133153074	1.000000	0.71417	0.044000	0.18714	0.085000	0.17905	3.428000	0.52792	1.988000	0.58038	0.533000	0.62120	ATC		0.308	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		4	3	0	0	0	1	0	4	3				
TIAM2	26230	broad.mit.edu	37	6	155451107	155451107	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451107C>T	ENST00000461783.3	+	6	2023	c.750C>T	c.(748-750)taC>taT	p.Y250Y	TIAM2_ENST00000529824.2_Silent_p.Y250Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.Y250Y|TIAM2_ENST00000360366.4_Silent_p.Y250Y|TIAM2_ENST00000456144.1_Silent_p.Y250Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	250					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CATCCTGGTACGACTCCCCTT	0.662																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(748-750)taC>taT		T-cell lymphoma invasion and metastasis 2							64.0	67.0	66.0					6																	155451107		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451107C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.750C>T	6.37:g.155451107C>T						TIAM2_ENST00000456144.1_Silent_p.Y250Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.Y250Y|TIAM2_ENST00000529824.2_Silent_p.Y250Y|TIAM2_ENST00000318981.5_Silent_p.Y250Y	p.Y250Y			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2023	+		Ovarian(120;0.196)	250					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.750C>T	CCDS34558.1																																																																																				0.662	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		19	48	0	0	0	1	0	19	48				
ASB12	142689	broad.mit.edu	37	X	63444766	63444766	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63444766G>A	ENST00000396130.2	-	1	737	c.738C>T	c.(736-738)ctC>ctT	p.L246L	ASB12_ENST00000362002.2_Silent_p.L255L|MTMR8_ENST00000453546.1_Silent_p.L630L			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	246					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GGTCAAGGGAGAGAGATGGAA	0.507																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1888-1890)ctC>ctT		myotubularin related protein 8							79.0	64.0	69.0					X																	63444766		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444766G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.738C>T	X.37:g.63444766G>A						ASB12_ENST00000396130.2_Silent_p.L246L|ASB12_ENST00000362002.2_Silent_p.L255L	p.L630L			Q96EF0	MTMR8_HUMAN			10	1979	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.1890C>T																																																																																					0.507	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	20	0	0	0	1	0	8	20				
CAD	790	broad.mit.edu	37	2	27456617	27456617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27456617G>A	ENST00000403525.1	+	20	3295	c.3151G>A	c.(3151-3153)Gca>Aca	p.A1051T	CAD_ENST00000264705.4_Missense_Mutation_p.A1114T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGCAGCGCAGCAGCCGT	0.607																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3340-3342)Gca>Aca		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						61.0	63.0	63.0					2																	27456617		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456617G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3151G>A	2.37:g.27456617G>A	ENSP00000384510:p.Ala1051Thr					CAD_ENST00000403525.1_Missense_Mutation_p.A1051T	p.A1114T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			21	3502	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1114			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3340G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.613059	0.96637	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97811	-4.55;-4.55	6.04	6.04	0.98038	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.95	D	0.99564	1.0969	10	0.87932	D	0	0.3015	19.143	0.93452	0.0:0.0:1.0:0.0	.	1051;1114	F8VPD4;P27708	.;PYR1_HUMAN	T	1114;1051	ENSP00000264705:A1114T;ENSP00000384510:A1051T	ENSP00000264705:A1114T	A	+	1	0	CAD	27310121	1.000000	0.71417	0.807000	0.32361	0.982000	0.71751	8.999000	0.93557	2.873000	0.98535	0.561000	0.74099	GCA		0.607	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			23	35	0	0	0	1	0	23	35				
GIGYF2	26058	broad.mit.edu	37	2	233710515	233710515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233710515G>T	ENST00000409547.1	+	28	3690	c.3379G>T	c.(3379-3381)Gga>Tga	p.G1127*	GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G1121*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G1148*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G1149*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G1127*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.G1149*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1127					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTCTTTCAGGGAGTAAATAA	0.398																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3445-3447)Gga>Tga		GRB10 interacting GYF protein 2							114.0	115.0	115.0					2																	233710515		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233710515G>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3379G>T	2.37:g.233710515G>T	ENSP00000386537:p.Gly1127*					GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G1148*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G1121*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G1149*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G1127*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.G1127*	p.G1149*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3642	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1127					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.3445G>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	42	9.474648	0.99181	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.996	19.843	0.96697	0.0:0.0:1.0:0.0	.	.	.	.	X	1149;1127;1149;1127;1121;1148	.	ENSP00000362664:G1127X	G	+	1	0	GIGYF2	233418759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.679000	0.91253	0.655000	0.94253	GGA		0.398	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	78	1	0	0.150653	1	0.152692	4	78				
CKAP5	9793	broad.mit.edu	37	11	46791594	46791594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46791594G>A	ENST00000529230.1	-	26	3287	c.3241C>T	c.(3241-3243)Cca>Tca	p.P1081S	CKAP5_ENST00000354558.3_Missense_Mutation_p.P1081S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1081S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P1081S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1081					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGCTTGGCTGGCATGTTAACT	0.443																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3241-3243)Cca>Tca		cytoskeleton associated protein 5							170.0	154.0	160.0					11																	46791594		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46791594G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3241C>T	11.37:g.46791594G>A	ENSP00000432768:p.Pro1081Ser					CKAP5_ENST00000354558.3_Missense_Mutation_p.P1081S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P1081S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1081S	p.P1081S			Q14008	CKAP5_HUMAN			26	3287	-			1081					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.3241C>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056714	0.76074	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.50001	0.76;0.76;0.78;0.78	4.87	4.87	0.63330	Armadillo-type fold (1);	0.100917	0.64402	D	0.000001	T	0.70868	0.3273	M	0.85197	2.74	0.80722	D	1	B;D;B	0.89917	0.161;1.0;0.084	B;D;B	0.87578	0.053;0.998;0.051	T	0.68112	-0.5495	10	0.17832	T	0.49	-23.4062	18.5618	0.91102	0.0:0.0:1.0:0.0	.	1081;1081;1081	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	S	1081	ENSP00000432768:P1081S;ENSP00000395302:P1081S;ENSP00000310227:P1081S;ENSP00000346566:P1081S	ENSP00000310227:P1081S	P	-	1	0	CKAP5	46748170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.351000	0.97073	2.675000	0.91044	0.655000	0.94253	CCA		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		9	113	0	0	0	1	0	9	113				
B3GALT5	10317	broad.mit.edu	37	21	41032932	41032932	+	Missense_Mutation	SNP	C	C	T	rs372607334		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41032932C>T	ENST00000380620.4	+	5	1038	c.446C>T	c.(445-447)gCg>gTg	p.A149V	B3GALT5_ENST00000380618.1_Missense_Mutation_p.A149V|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.A149V|B3GALT5_ENST00000398714.2_Missense_Mutation_p.A149V			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	149					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGTCCTCAGGCGGCGTTTGTG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19952	0.0		0.0	False		,,,				2504	0.0					ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(445-447)gCg>gTg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	101.0	96.0	97.0		446,446,446,446,446	3.9	0.4	21		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	B3GALT5	NM_033173.1,NM_033172.1,NM_033171.1,NM_033170.1,NM_006057.1	64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	149/311,149/311,149/311,149/311,149/311	41032932	1,13005	2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41032932C>T	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.446C>T	21.37:g.41032932C>T	ENSP00000369994:p.Ala149Val					B3GALT5_ENST00000380618.1_Missense_Mutation_p.A149V|B3GALT5_ENST00000398714.2_Missense_Mutation_p.A149V|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.A149V	p.A149V			Q9Y2C3	B3GT5_HUMAN			5	1038	+		Prostate(19;2.55e-06)	149					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.446C>T	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913422	0.33815	0.0	1.16E-4	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.72	3.93	0.45458	.	0.509864	0.19153	N	0.121394	T	0.77545	0.4146	L	0.38692	1.165	0.31556	N	0.658103	B	0.24043	0.096	B	0.20184	0.028	T	0.71431	-0.4595	10	0.22706	T	0.39	.	12.6097	0.56544	0.0:0.88:0.0:0.12	.	149	Q9Y2C3	B3GT5_HUMAN	V	149	ENSP00000369994:A149V;ENSP00000369992:A149V;ENSP00000343318:A149V;ENSP00000381699:A149V	ENSP00000343318:A149V	A	+	2	0	B3GALT5	39954802	1.000000	0.71417	0.401000	0.26359	0.124000	0.20399	4.841000	0.62824	0.786000	0.33708	0.655000	0.94253	GCG		0.448	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		32	43	0	0	0	1	0	32	43				
DDX43	55510	broad.mit.edu	37	6	74123458	74123458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74123458G>T	ENST00000370336.4	+	12	1604	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H	MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	482	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTTTCTACAGAGTATGTCAT	0.343																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1444-1446)caG>caT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							115.0	110.0	112.0					6																	74123458		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74123458G>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1446G>T	6.37:g.74123458G>T	ENSP00000359361:p.Gln482His					MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	p.Q482H	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			12	1604	+			482			Helicase C-terminal.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1446G>T	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	2.506	-0.313996	0.05422	.	.	ENSG00000080007	ENST00000370336	T	0.04862	3.54	4.75	-4.08	0.03963	Helicase, C-terminal (1);	0.382752	0.29684	N	0.011470	T	0.00967	0.0032	N	0.20881	0.62	0.25359	N	0.988798	B	0.02656	0.0	B	0.08055	0.003	T	0.42498	-0.9448	10	0.48119	T	0.1	.	2.2106	0.03946	0.4177:0.2914:0.1787:0.1123	.	482	Q9NXZ2	DDX43_HUMAN	H	482	ENSP00000359361:Q482H	ENSP00000359361:Q482H	Q	+	3	2	DDX43	74180179	0.004000	0.15560	0.007000	0.13788	0.004000	0.04260	-0.146000	0.10250	-0.611000	0.05709	-0.136000	0.14681	CAG		0.343	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		28	47	1	0	6.38683e-12	1	7.9998e-12	28	47				
CENPJ	55835	broad.mit.edu	37	13	25480710	25480710	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480710A>G	ENST00000381884.4	-	7	1651	c.1466T>C	c.(1465-1467)aTc>aCc	p.I489T	CENPJ_ENST00000545981.1_Missense_Mutation_p.I489T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	489					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCAAATTTGATCTGGTCTCT	0.398																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1465-1467)aTc>aCc		centromere protein J							81.0	85.0	83.0					13																	25480710		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480710A>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1466T>C	13.37:g.25480710A>G	ENSP00000371308:p.Ile489Thr					CENPJ_ENST00000545981.1_Missense_Mutation_p.I489T	p.I489T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1651	-		Lung SC(185;0.0225)|Breast(139;0.0602)	489					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1466T>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	A	4.516	0.095816	0.08681	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.21191	2.02;2.02	5.75	1.72	0.24424	.	0.789542	0.11894	N	0.519304	T	0.17619	0.0423	M	0.67953	2.075	0.09310	N	1	P	0.38922	0.651	B	0.27887	0.084	T	0.11767	-1.0574	10	0.40728	T	0.16	.	7.1998	0.25874	0.6501:0.276:0.0739:0.0	.	489	Q9HC77	CENPJ_HUMAN	T	489	ENSP00000371308:I489T;ENSP00000441090:I489T	ENSP00000371308:I489T	I	-	2	0	CENPJ	24378710	0.005000	0.15991	0.226000	0.23910	0.186000	0.23388	0.213000	0.17521	0.434000	0.26340	0.533000	0.62120	ATC		0.398	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		6	82	0	0	0	1	0	6	82				
LILRA6	79168	broad.mit.edu	37	19	54742904	54742904	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54742904G>T	ENST00000396365.2	-	8	1410	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.V440V|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	457					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAACACCAGGACCAAGCCTG	0.577																																						ENST00000396365.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1369-1371)gtC>gtA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							116.0	105.0	109.0					19																	54742904		2176	4299	6475	SO:0001819	synonymous_variant	79168							g.chr19:54742904G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1371C>A	19.37:g.54742904G>T						LILRA6_ENST00000245621.5_Silent_p.V440V|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron	p.V457V	NM_024318.2	NP_077294.2				GBM - Glioblastoma multiforme(193;0.105)	8	1410	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Silent	SNP	ENST00000396365.2	37	c.1371C>A	CCDS42610.1																																																																																				0.577	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		10	19	1	0	3.07112e-06	1	3.52574e-06	10	19				
YIPF4	84272	broad.mit.edu	37	2	32530576	32530576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32530576G>A	ENST00000238831.4	+	6	862	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	206						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGTGTTTTGGGCTGCCTACAG	0.328																																						ENST00000238831.3																			0				kidney(2)|lung(3)|prostate(3)|skin(1)	9						c.(616-618)Gct>Act		Yip1 domain family, member 4							92.0	94.0	94.0					2																	32530576		2203	4300	6503	SO:0001583	missense	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32530576G>A	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.616G>A	2.37:g.32530576G>A	ENSP00000238831:p.Ala206Thr						p.A206T	NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN			6	862	+	Acute lymphoblastic leukemia(172;0.155)		206						Missense_Mutation	SNP	ENST00000238831.4	37	c.616G>A	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787375	0.90367	.	.	ENSG00000119820	ENST00000238831	T	0.44881	0.91	5.86	5.86	0.93980	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.61113	-0.7128	10	0.34782	T	0.22	.	18.3664	0.90392	0.0:0.0:1.0:0.0	.	206	Q9BSR8	YIPF4_HUMAN	T	206	ENSP00000238831:A206T	ENSP00000238831:A206T	A	+	1	0	YIPF4	32384080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	2.777000	0.95525	0.591000	0.81541	GCT		0.328	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		26	45	0	0	0	1	0	26	45				
CTNND1	1500	broad.mit.edu	37	11	57577605	57577605	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57577605A>T	ENST00000399050.4	+	16	2996	c.2460A>T	c.(2458-2460)cgA>cgT	p.R820R	CTNND1_ENST00000361391.6_Silent_p.R814R|CTNND1_ENST00000528621.1_Silent_p.R760R|CTNND1_ENST00000526772.1_Silent_p.R491R|CTNND1_ENST00000532844.1_Silent_p.R766R|CTNND1_ENST00000526938.1_Silent_p.R820R|CTNND1_ENST00000426142.2_Silent_p.R713R|CTNND1_ENST00000360682.6_Silent_p.R820R|CTNND1_ENST00000525902.1_Silent_p.R497R|CTNND1_ENST00000524630.1_Silent_p.R814R|CTNND1_ENST00000527467.1_Silent_p.R497R|CTNND1_ENST00000399039.4_Silent_p.R820R|CTNND1_ENST00000529873.1_Silent_p.R760R|CTNND1_ENST00000530748.1_Silent_p.R766R|CTNND1_ENST00000528232.1_Silent_p.R719R|CTNND1_ENST00000532245.1_Silent_p.R713R|CTNND1_ENST00000532649.1_Silent_p.R760R|CTNND1_ENST00000358694.6_Silent_p.R814R|CTNND1_ENST00000529986.1_Silent_p.R713R|CTNND1_ENST00000532787.1_Silent_p.R713R|CTNND1_ENST00000361332.4_Silent_p.R814R|CTNND1_ENST00000532463.1_Silent_p.R713R|CTNND1_ENST00000529526.1_Silent_p.R760R|CTNND1_ENST00000534579.1_Silent_p.R760R|CTNND1_ENST00000530094.1_Silent_p.R713R|CTNND1_ENST00000529919.1_Silent_p.R820R|CTNND1_ENST00000428599.2_Silent_p.R814R|CTNND1_ENST00000533667.1_Silent_p.R491R|CTNND1_ENST00000531014.1_Silent_p.R491R|CTNND1_ENST00000415361.2_Silent_p.R719R|CTNND1_ENST00000361796.4_Silent_p.R814R|CTNND1_ENST00000526357.1_Silent_p.R760R	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	820					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGAAGTTCGAGCAGCAGCAC	0.398																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(2440-2442)cgA>cgT		catenin (cadherin-associated protein), delta 1							78.0	77.0	77.0					11																	57577605		1830	4075	5905	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57577605A>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2460A>T	11.37:g.57577605A>T						CTNND1_ENST00000530094.1_Silent_p.R713R|CTNND1_ENST00000534579.1_Silent_p.R760R|CTNND1_ENST00000528232.1_Silent_p.R719R|CTNND1_ENST00000529526.1_Silent_p.R760R|CTNND1_ENST00000428599.2_Silent_p.R814R|CTNND1_ENST00000399039.4_Silent_p.R820R|CTNND1_ENST00000399050.4_Silent_p.R820R|CTNND1_ENST00000415361.2_Silent_p.R719R|CTNND1_ENST00000529919.1_Silent_p.R820R|CTNND1_ENST00000525902.1_Silent_p.R497R|CTNND1_ENST00000529873.1_Silent_p.R760R|CTNND1_ENST00000531014.1_Silent_p.R491R|CTNND1_ENST00000358694.6_Silent_p.R814R|CTNND1_ENST00000532787.1_Silent_p.R713R|CTNND1_ENST00000426142.2_Silent_p.R713R|CTNND1_ENST00000532649.1_Silent_p.R760R|CTNND1_ENST00000532844.1_Silent_p.R766R|CTNND1_ENST00000529986.1_Silent_p.R713R|CTNND1_ENST00000361332.4_Silent_p.R814R|CTNND1_ENST00000532463.1_Silent_p.R713R|CTNND1_ENST00000528621.1_Silent_p.R760R|CTNND1_ENST00000533667.1_Silent_p.R491R|CTNND1_ENST00000526357.1_Silent_p.R760R|CTNND1_ENST00000526938.1_Silent_p.R820R|CTNND1_ENST00000361391.6_Silent_p.R814R|CTNND1_ENST00000532245.1_Silent_p.R713R|CTNND1_ENST00000361796.4_Silent_p.R814R|CTNND1_ENST00000530748.1_Silent_p.R766R|CTNND1_ENST00000360682.6_Silent_p.R820R|CTNND1_ENST00000527467.1_Silent_p.R497R|CTNND1_ENST00000526772.1_Silent_p.R491R	p.R814R			O60716	CTND1_HUMAN			15	2955	+		all_epithelial(135;0.155)	820					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.2442A>T	CCDS44604.1																																																																																				0.398	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		9	36	0	0	0	1	0	9	36				
TEX33	339669	broad.mit.edu	37	22	37387530	37387530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37387530T>C	ENST00000405091.2	-	6	988	c.737A>G	c.(736-738)gAt>gGt	p.D246G	TEX33_ENST00000402860.3_Missense_Mutation_p.D161G|TEX33_ENST00000381821.1_Missense_Mutation_p.D246G			O43247	TEX33_HUMAN	testis expressed 33	246																	ACCCAGATCATCCGTCTTCCT	0.547																																						ENST00000405091.2																			0											c.(736-738)gAt>gGt		testis expressed 33							179.0	147.0	158.0					22																	37387530		2203	4300	6503	SO:0001583	missense	339669							g.chr22:37387530T>C	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.737A>G	22.37:g.37387530T>C	ENSP00000386118:p.Asp246Gly					TEX33_ENST00000381821.1_Missense_Mutation_p.D246G|TEX33_ENST00000402860.3_Missense_Mutation_p.D161G	p.D246G			O43247	EAN57_HUMAN			6	988	-			246					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	c.737A>G	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696657	0.68386	.	.	ENSG00000185264	ENST00000402860;ENST00000405091;ENST00000381821	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000014	T	0.64962	0.2646	L	0.32530	0.975	0.44652	D	0.997634	D	0.89917	1.0	D	0.91635	0.999	T	0.67673	-0.5610	9	0.66056	D	0.02	-16.357	11.5795	0.50883	0.0:0.0:0.0:1.0	.	246	O43247	EAN57_HUMAN	G	161;246;246	.	ENSP00000371243:D246G	D	-	2	0	C22orf33	35717476	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	2.758000	0.47565	2.044000	0.60594	0.460000	0.39030	GAT		0.547	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		12	104	0	0	0	1	0	12	104				
WDR64	128025	broad.mit.edu	37	1	241904950	241904950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241904950C>A	ENST00000366552.2	+	11	1631	c.1424C>A	c.(1423-1425)tCt>tAt	p.S475Y	WDR64_ENST00000437684.2_Missense_Mutation_p.S475Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	475										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTATCTGCTCTGAATCCATA	0.318																																						ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1423-1425)tCt>tAt		WD repeat domain 64							93.0	87.0	89.0					1																	241904950		2202	4299	6501	SO:0001583	missense	128025							g.chr1:241904950C>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1424C>A	1.37:g.241904950C>A	ENSP00000355510:p.Ser475Tyr					WDR64_ENST00000437684.2_Missense_Mutation_p.S475Y	p.S475Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		11	1631	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	475					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1424C>A		.	.	.	.	.	.	.	.	.	.	C	18.89	3.719043	0.68844	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.47869	0.83;0.83;0.83	5.48	5.48	0.80851	.	0.405666	0.24200	N	0.040625	T	0.56321	0.1977	L	0.43152	1.355	0.40320	D	0.978815	D	0.71674	0.998	D	0.80764	0.994	T	0.49031	-0.8981	10	0.02654	T	1	-18.4006	16.2684	0.82601	0.0:1.0:0.0:0.0	.	195	D1MPS4	.	Y	475;475;246	ENSP00000355510:S475Y;ENSP00000402446:S475Y;ENSP00000406656:S246Y	ENSP00000355510:S475Y	S	+	2	0	WDR64	239971573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.098000	0.50259	2.587000	0.87381	0.655000	0.94253	TCT		0.318	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		10	26	1	0	2.17888e-05	1	2.45068e-05	10	26				
TTN	7273	broad.mit.edu	37	2	179590617	179590617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179590617G>A	ENST00000591111.1	-	68	19705	c.19481C>T	c.(19480-19482)tCc>tTc	p.S6494F	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5567F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S6811F|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12095	Ig-like 46.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTTTGGATGCAATCTT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20431-20433)tCc>tTc		titin							119.0	115.0	116.0					2																	179590617		1909	4149	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590617G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19481C>T	2.37:g.179590617G>A	ENSP00000465570:p.Ser6494Phe					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5567F|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6494F	p.S6811F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		70	20656	-			6494			Ig-like 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20432C>T		.	.	.	.	.	.	.	.	.	.	G	9.951	1.220214	0.22457	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71525	0.3350	M	0.78456	2.415	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.68792	-0.5315	9	0.87932	D	0	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	6494	Q8WZ42	TITIN_HUMAN	F	5567	ENSP00000343764:S5567F	ENSP00000343764:S5567F	S	-	2	0	TTN	179298862	0.990000	0.36364	0.627000	0.29227	0.654000	0.38779	2.497000	0.45354	2.865000	0.98341	0.655000	0.94253	TCC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	19	0	0	0	1	0	22	19				
AP2B1	163	broad.mit.edu	37	17	33984748	33984748	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33984748C>T	ENST00000262325.7	+	14	2480	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	AP2B1_ENST00000312678.8_Missense_Mutation_p.P643S|AP2B1_ENST00000592545.1_Missense_Mutation_p.P605S|AP2B1_ENST00000538556.1_Missense_Mutation_p.P586S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P643S|AP2B1_ENST00000537622.2_Missense_Mutation_p.P643S|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	643	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGTCAATGTGCCACAGGTGTC	0.488																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1927-1929)Cca>Tca		adaptor-related protein complex 2, beta 1 subunit							112.0	108.0	109.0					17																	33984748		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33984748C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1927C>T	17.37:g.33984748C>T	ENSP00000262325:p.Pro643Ser					AP2B1_ENST00000592545.1_Missense_Mutation_p.P605S|AP2B1_ENST00000537622.2_Missense_Mutation_p.P643S|AP2B1_ENST00000538556.1_Missense_Mutation_p.P586S|AP2B1_ENST00000312678.8_Missense_Mutation_p.P643S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P643S|AP2B1_ENST00000545922.2_3'UTR	p.P643S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	14	2480	+		Ovarian(249;0.17)	643			Pro-rich (stalk region).		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1927C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140734	0.94560	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.37752	1.46;1.52;1.18;1.52	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	N	0.16368	0.405	0.80722	D	1	D;B;B;B	0.67145	0.996;0.001;0.003;0.009	D;B;B;B	0.75484	0.986;0.002;0.004;0.008	T	0.25813	-1.0121	10	0.23891	T	0.37	-8.7324	19.4659	0.94939	0.0:1.0:0.0:0.0	.	380;605;643;643	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	S	643;643;586;643;380	ENSP00000262325:P643S;ENSP00000314414:P643S;ENSP00000440563:P586S;ENSP00000437413:P643S	ENSP00000262325:P643S	P	+	1	0	AP2B1	31008861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CCA		0.488	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			17	36	0	0	0	1	0	17	36				
EI24	9538	broad.mit.edu	37	11	125448918	125448918	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125448918C>T	ENST00000278903.6	+	7	757	c.515C>T	c.(514-516)gCt>gTt	p.A172V	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.A172V	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	172					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAAATAATTGCTGACATGCTC	0.433																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(514-516)gCt>gTt		etoposide induced 2.4							72.0	62.0	65.0					11																	125448918		1873	4104	5977	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125448918C>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.515C>T	11.37:g.125448918C>T	ENSP00000278903:p.Ala172Val					EI24_ENST00000343678.4_Missense_Mutation_p.A172V|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	p.A172V	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	7	757	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	172					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.515C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.223986	0.79576	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842	.	.	.	5.25	5.25	0.73442	.	0.102031	0.64402	D	0.000002	T	0.61652	0.2364	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.33883	0.114;0.43;0.261;0.114	B;B;B;B	0.37480	0.089;0.251;0.137;0.089	T	0.64575	-0.6375	9	0.59425	D	0.04	-3.5589	17.009	0.86400	0.0:1.0:0.0:0.0	.	158;172;172;172	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	V	172;172;215;172	.	ENSP00000278903:A172V	A	+	2	0	EI24	124954128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.210000	0.77924	2.615000	0.88500	0.650000	0.86243	GCT		0.433	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		2	1	0	0	0	1	0	2	1				
CDC37	11140	broad.mit.edu	37	19	10502251	10502251	+	Silent	SNP	G	G	A	rs373049246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10502251G>A	ENST00000222005.2	-	8	1166	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	371					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.G371G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCATCGCCCGTCTTGG	0.592											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222005.2																			1	Substitution - coding silent(1)	p.G371G(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(1111-1113)ggC>ggT		cell division cycle 37		G		1,4405	2.1+/-5.4	0,1,2202	110.0	98.0	102.0		1113	-7.8	0.0	19		102	0,8600		0,0,4300	no	coding-synonymous	CDC37	NM_007065.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		371/379	10502251	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10502251G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.1113C>T	19.37:g.10502251G>A			OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	665		p.G371G	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	8	1166	-			371					Q53YA2	Silent	SNP	ENST00000222005.2	37	c.1113C>T	CCDS12237.1																																																																																				0.592	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		42	52	0	0	0	1	0	42	52				
CLCA1	1179	broad.mit.edu	37	1	86965612	86965612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86965612C>T	ENST00000234701.3	+	15	2980	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S	CLCA1_ENST00000394711.1_Missense_Mutation_p.P877S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	877					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GACACCTAGTCCTGATGAAAC	0.408																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2629-2631)Cct>Tct		chloride channel accessory 1							131.0	126.0	128.0					1																	86965612		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86965612C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2629C>T	1.37:g.86965612C>T	ENSP00000234701:p.Pro877Ser					CLCA1_ENST00000394711.1_Missense_Mutation_p.P877S	p.P877S			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	15	2980	+		Lung NSC(277;0.239)	877					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2629C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437247	0.12104	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.03441	3.93;3.93	5.64	3.68	0.42216	.	1.141980	0.06398	N	0.718261	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.45190	-0.9278	10	0.10902	T	0.67	-13.4225	3.4	0.07320	0.1516:0.5356:0.2174:0.0954	.	877	A8K7I4	CLCA1_HUMAN	S	877	ENSP00000234701:P877S;ENSP00000378200:P877S	ENSP00000234701:P877S	P	+	1	0	CLCA1	86738200	0.000000	0.05858	0.086000	0.20670	0.336000	0.28762	0.050000	0.14120	1.336000	0.45506	0.555000	0.69702	CCT		0.408	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		97	93	0	0	0	1	0	97	93				
VPS13B	157680	broad.mit.edu	37	8	100493974	100493974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493974G>A	ENST00000358544.2	+	25	3925	c.3814G>A	c.(3814-3816)Gct>Act	p.A1272T	VPS13B_ENST00000357162.2_Missense_Mutation_p.A1272T|VPS13B_ENST00000395996.1_Missense_Mutation_p.A1272T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1272					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATAGGCACAGCTCCTCCAGA	0.453																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3814-3816)Gct>Act		vacuolar protein sorting 13 homolog B (yeast)							100.0	94.0	96.0					8																	100493974		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100493974G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3814G>A	8.37:g.100493974G>A	ENSP00000351346:p.Ala1272Thr					VPS13B_ENST00000358544.2_Missense_Mutation_p.A1272T|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1272T	p.A1272T			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		25	3925	+	Breast(36;3.73e-07)		1272					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3814G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471493	0.63737	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.49720	0.77;0.77;0.77	5.08	5.08	0.68730	.	0.194726	0.40469	N	0.001096	T	0.44329	0.1288	L	0.53249	1.67	0.36887	D	0.889674	B;P;P;B	0.35575	0.374;0.51;0.457;0.348	B;B;B;B	0.36092	0.156;0.217;0.172;0.156	T	0.51787	-0.8661	10	0.32370	T	0.25	.	13.8058	0.63230	0.076:0.0:0.924:0.0	.	1271;1272;1272;1272	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	T	1272	ENSP00000349685:A1272T;ENSP00000351346:A1272T;ENSP00000379318:A1272T	ENSP00000349685:A1272T	A	+	1	0	VPS13B	100563150	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.776000	0.68924	2.365000	0.80145	0.655000	0.94253	GCT		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		28	43	0	0	0	1	0	28	43				
SMCHD1	23347	broad.mit.edu	37	18	2666211	2666211	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2666211A>G	ENST00000320876.6	+	2	580	c.242A>G	c.(241-243)gAa>gGa	p.E81G	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E81G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	81					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGTAGGAAAGAAATTACCTGT	0.259																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(241-243)gAa>gGa		structural maintenance of chromosomes flexible hinge domain containing 1							36.0	35.0	36.0					18																	2666211		1793	4051	5844	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2666211A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.242A>G	18.37:g.2666211A>G	ENSP00000326603:p.Glu81Gly					SMCHD1_ENST00000261598.8_Missense_Mutation_p.E81G	p.E81G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			2	580	+			81					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.242A>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657865	0.47467	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26660	1.72;1.73	5.46	5.46	0.80206	.	0.215590	0.41938	D	0.000798	T	0.24198	0.0586	L	0.32530	0.975	0.31208	N	0.69891	D	0.53151	0.958	B	0.42692	0.395	T	0.18935	-1.0321	10	0.87932	D	0	.	15.8252	0.78698	1.0:0.0:0.0:0.0	.	81	A6NHR9	SMHD1_HUMAN	G	81	ENSP00000326603:E81G;ENSP00000261598:E81G	ENSP00000261598:E81G	E	+	2	0	SMCHD1	2656211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.473000	0.60196	2.197000	0.70478	0.482000	0.46254	GAA		0.259	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			5	8	0	0	0	1	0	5	8				
AQR	9716	broad.mit.edu	37	15	35210528	35210528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35210528G>A	ENST00000156471.5	-	15	1498	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	425					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGATACAAAGGCATCTGGTTC	0.368																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1273-1275)Cct>Tct		aquarius intron-binding spliceosomal factor							102.0	94.0	96.0					15																	35210528		1831	4077	5908	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35210528G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1273C>T	15.37:g.35210528G>A	ENSP00000156471:p.Pro425Ser						p.P425S	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	15	1498	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	425					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1273C>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191865	0.78902	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93953	-3.32	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.89818	0.6825	L	0.41710	1.295	0.80722	D	1	B	0.25007	0.116	B	0.24155	0.051	D	0.86363	0.1718	10	0.20519	T	0.43	-15.7479	17.925	0.88980	0.0:0.0:1.0:0.0	.	425	O60306	AQR_HUMAN	S	425	ENSP00000156471:P425S	ENSP00000156471:P425S	P	-	1	0	AQR	32997820	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.503000	0.97984	2.474000	0.83562	0.491000	0.48974	CCT		0.368	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		19	36	0	0	0	1	0	19	36				
RGL3	57139	broad.mit.edu	37	19	11507938	11507938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11507938C>T	ENST00000380456.3	-	18	2059	c.1996G>A	c.(1996-1998)Gtc>Atc	p.V666I	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.V672I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	666	Interaction with HRAS, MRAS and RIT1. {ECO:0000250}.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CCAGGAAGGACTTGAAAGAGC	0.642																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(1996-1998)Gtc>Atc		ral guanine nucleotide dissociation stimulator-like 3							83.0	85.0	84.0					19																	11507938		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11507938C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1996G>A	19.37:g.11507938C>T	ENSP00000369823:p.Val666Ile					RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.V672I	p.V666I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			18	2059	-			666			Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1996G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058586	0.36277	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.46451	0.87;0.87	4.7	4.7	0.59300	Ras-association (3);	0.210289	0.38548	N	0.001659	T	0.51398	0.1672	L	0.43152	1.355	0.36564	D	0.872621	B;B;B;D	0.54601	0.393;0.231;0.089;0.967	B;B;B;D	0.70716	0.197;0.081;0.142;0.97	T	0.52139	-0.8615	10	0.28530	T	0.3	.	10.5361	0.45004	0.1931:0.8069:0.0:0.0	.	666;672;672;463	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	I	463;672;666	ENSP00000377075:V672I;ENSP00000369823:V666I	ENSP00000344665:V463I	V	-	1	0	RGL3	11368938	0.961000	0.32948	0.998000	0.56505	0.951000	0.60555	0.084000	0.14891	2.597000	0.87782	0.555000	0.69702	GTC		0.642	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		6	116	0	0	0	1	0	6	116				
SORBS2	8470	broad.mit.edu	37	4	186544169	186544169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544169T>C	ENST00000284776.7	-	13	2911	c.2402A>G	c.(2401-2403)tAc>tGc	p.Y801C	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y705C|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y901C|SORBS2_ENST00000431808.1_Missense_Mutation_p.Y801C|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	801					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCATTCTGGTAGGGTGGACA	0.612																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2401-2403)tAc>tGc		sorbin and SH3 domain containing 2							73.0	80.0	78.0					4																	186544169		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544169T>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2402A>G	4.37:g.186544169T>C	ENSP00000284776:p.Tyr801Cys					SORBS2_ENST00000418609.1_Missense_Mutation_p.Y705C|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y801C|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y901C|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	p.Y801C			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2965	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	801					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2402A>G	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	8.636	0.894800	0.17613	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.36157	1.37;1.37;1.27;1.35	5.92	1.96	0.26148	.	0.420085	0.26099	N	0.026343	T	0.44519	0.1297	L	0.43152	1.355	0.34336	D	0.688203	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.942;0.996;0.897	T	0.52208	-0.8606	10	0.40728	T	0.16	-16.9752	6.0791	0.19931	0.36:0.0649:0.0:0.5751	.	705;901;801	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	C	801;801;705;901	ENSP00000284776:Y801C;ENSP00000411764:Y801C;ENSP00000397482:Y705C;ENSP00000347852:Y901C	ENSP00000284776:Y801C	Y	-	2	0	SORBS2	186781163	1.000000	0.71417	0.406000	0.26421	0.000000	0.00434	2.801000	0.47908	0.487000	0.27698	-1.288000	0.01363	TAC		0.612	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		36	71	0	0	0	1	0	36	71				
DOLK	22845	broad.mit.edu	37	9	131708454	131708454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131708454G>A	ENST00000372586.3	-	1	1444	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	377					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CGGAAGTAGCGCACATACTCC	0.522																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1129-1131)Cgc>Tgc		dolichol kinase							125.0	124.0	124.0					9																	131708454		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708454G>A	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1129C>T	9.37:g.131708454G>A	ENSP00000361667:p.Arg377Cys					RP11-101E3.5_ENST00000482796.1_Intron	p.R377C	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	1444	-			377					Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.1129C>T	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182885	0.78677	.	.	ENSG00000175283	ENST00000372586	T	0.80824	-1.42	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.92008	0.7468	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93625	0.6951	10	0.87932	D	0	-14.3186	17.9993	0.89194	0.0:0.0:1.0:0.0	.	377	Q9UPQ8	DOLK_HUMAN	C	377	ENSP00000361667:R377C	ENSP00000361667:R377C	R	-	1	0	DOLK	130748275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.515000	0.81761	2.479000	0.83701	0.462000	0.41574	CGC		0.522	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		37	62	0	0	0	1	0	37	62				
RIF1	55183	broad.mit.edu	37	2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293769C>T	ENST00000243326.5	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000428287.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGGAACATCCGTTAATCAG	0.338																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1387-1389)Ccg>Tcg		RAP1 interacting factor homolog (yeast)							103.0	100.0	101.0					2																	152293769		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152293769C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1387C>T	2.37:g.152293769C>T	ENSP00000243326:p.Pro463Ser					RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S|RIF1_ENST00000428287.2_Missense_Mutation_p.P463S	p.P463S			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	12	1870	+			463					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1387C>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.987|9.987	1.229742|1.229742	0.22542|0.22542	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.11277|.	2.79;2.79;2.79;2.79;2.79|.	5.45|5.45	3.59|3.59	0.41128|0.41128	.|.	0.208412|.	0.51477|.	N|.	0.000095|.	T|T	0.63558|0.63558	0.2521|0.2521	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	P;P|.	0.45474|.	0.859;0.677|.	B;B|.	0.43838|.	0.433;0.336|.	T|T	0.60326|0.60326	-0.7285|-0.7285	10|5	0.46703|.	T|.	0.11|.	-0.2163|-0.2163	9.5722|9.5722	0.39436|0.39436	0.0:0.7613:0.0:0.2387|0.0:0.7613:0.0:0.2387	.|.	463;463|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	S|F	463|454	ENSP00000390181:P463S;ENSP00000414615:P463S;ENSP00000415691:P463S;ENSP00000243326:P463S;ENSP00000416123:P463S|.	ENSP00000243326:P463S|.	P|S	+|+	1|2	0|0	RIF1|RIF1	152002015|152002015	0.997000|0.997000	0.39634|0.39634	0.759000|0.759000	0.31340|0.31340	0.013000|0.013000	0.08279|0.08279	0.717000|0.717000	0.25851|0.25851	0.733000|0.733000	0.32492|0.32492	0.460000|0.460000	0.39030|0.39030	CCG|TCC		0.338	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			5	69	0	0	0	1	0	5	69				
LRP2	4036	broad.mit.edu	37	2	170177288	170177288	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170177288G>A	ENST00000263816.3	-	2	471	c.186C>T	c.(184-186)tgC>tgT	p.C62C	LRP2_ENST00000443831.1_Splice_Site_p.C62C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	62	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTCACTTACCGCAGCCAATTT	0.488																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.e2+1		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						129.0	102.0	111.0					2																	170177288		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170177288G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.187+1C>T	2.37:g.170177288G>A						LRP2_ENST00000443831.1_Splice_Site_p.C62_splice	p.C62_splice	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	2	471	-			62			LDL-receptor class A 1.		O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	c.187_splice	CCDS2232.1																																																																																				0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Silent	24	31	0	0	0	1	0	24	31				
KCNQ3	3786	broad.mit.edu	37	8	133152421	133152421	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133152421G>A	ENST00000388996.4	-	11	1890	c.1470C>T	c.(1468-1470)gcC>gcT	p.A490A	KCNQ3_ENST00000519445.1_Silent_p.A490A|KCNQ3_ENST00000521134.1_Silent_p.A370A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	490					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CACCTGTCCCGGCATCTGGGA	0.602																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1468-1470)gcC>gcT		potassium voltage-gated channel, KQT-like subfamily, member 3							42.0	42.0	42.0					8																	133152421		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133152421G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1470C>T	8.37:g.133152421G>A						KCNQ3_ENST00000519445.1_Silent_p.A490A|KCNQ3_ENST00000521134.1_Silent_p.A370A	p.A490A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1890	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		490					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.1470C>T	CCDS34943.1																																																																																				0.602	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		13	15	0	0	0	1	0	13	15				
MLYCD	23417	broad.mit.edu	37	16	83940604	83940604	+	Missense_Mutation	SNP	G	G	A	rs147617160	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83940604G>A	ENST00000262430.4	+	2	560	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	RP11-505K9.4_ENST00000566309.1_5'Flank	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	181	Alpha-helical domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AATGAATGGGGTGCTGAAAGG	0.473													G|||	18	0.00359425	0.0	0.0	5008	,	,		18263	0.0179		0.0	False		,,,				2504	0.0					ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(541-543)Gtg>Atg		malonyl-CoA decarboxylase		G	MET/VAL	1,3765		0,1,1882	170.0	165.0	166.0		541	5.2	1.0	16	dbSNP_134	166	0,8222		0,0,4111	yes	missense	MLYCD	NM_012213.2	21	0,1,5993	AA,AG,GG		0.0,0.0266,0.0083	probably-damaging	181/494	83940604	1,11987	1883	4111	5994	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83940604G>A	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.541G>A	16.37:g.83940604G>A	ENSP00000262430:p.Val181Met						p.V181M	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			2	560	+			181					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.541G>A	CCDS42206.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	12.86	2.063793	0.36373	2.66E-4	0.0	ENSG00000103150	ENST00000262430	D	0.90133	-2.62	5.19	5.19	0.71726	.	0.116516	0.64402	D	0.000015	D	0.92899	0.7741	M	0.73962	2.25	0.48236	D	0.99961	D	0.69078	0.997	D	0.64410	0.925	D	0.92872	0.6315	10	0.52906	T	0.07	-47.9539	18.1065	0.89521	0.0:0.0:1.0:0.0	.	181	O95822	DCMC_HUMAN	M	181	ENSP00000262430:V181M	ENSP00000262430:V181M	V	+	1	0	MLYCD	82498105	1.000000	0.71417	0.951000	0.38953	0.140000	0.21249	4.390000	0.59646	2.593000	0.87608	0.655000	0.94253	GTG		0.473	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		36	70	0	0	0	1	0	36	70				
ZNF236	7776	broad.mit.edu	37	18	74631731	74631731	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74631731G>T	ENST00000253159.8	+	20	3466		c.e20-1		ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATTTTGTGTAGACATTTGTAT	0.373																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.e20-1		zinc finger protein 236							118.0	109.0	112.0					18																	74631731		1917	4112	6029	SO:0001630	splice_region_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74631731G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3269-1G>T	18.37:g.74631731G>T						ZNF236_ENST00000320610.9_Splice_Site		NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	20	3466	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)						B2RTX9|Q9UL37	Splice_Site	SNP	ENST00000253159.8	37		CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636544	0.87760	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.919	0.92518	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF236	72760719	1.000000	0.71417	0.367000	0.25926	0.706000	0.40770	7.267000	0.78462	2.715000	0.92844	0.585000	0.79938	.		0.373	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		Intron	21	83	1	0	1.2644e-06	1	1.46818e-06	21	83				
ABCC5	10057	broad.mit.edu	37	3	183677558	183677558	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183677558T>C	ENST00000334444.6	-	17	2685	c.2445A>G	c.(2443-2445)ggA>ggG	p.G815G	ABCC5_ENST00000265586.6_Silent_p.G815G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	815					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TCTTTACTGATCCTGTTTTAG	0.328																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2443-2445)ggA>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							183.0	166.0	171.0					3																	183677558		1827	4076	5903	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183677558T>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2445A>G	3.37:g.183677558T>C						ABCC5_ENST00000265586.6_Silent_p.G815G	p.G815G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		17	2685	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		815					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2445A>G	CCDS43176.1																																																																																				0.328	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		36	50	0	0	0	1	0	36	50				
KRT36	8689	broad.mit.edu	37	17	39644948	39644948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39644948C>A	ENST00000328119.6	-	2	487	c.488G>T	c.(487-489)aGg>aTg	p.R163M	KRT36_ENST00000393986.2_Missense_Mutation_p.R113M	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	163	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGACCAGCCTGGCATTCTC	0.577																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(337-339)aGg>aTg		keratin 36							130.0	119.0	123.0					17																	39644948		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644948C>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.488G>T	17.37:g.39644948C>A	ENSP00000329165:p.Arg163Met					KRT36_ENST00000328119.6_Missense_Mutation_p.R163M	p.R113M			O76013	KRT36_HUMAN			3	550	-		Breast(137;0.000286)	163			Coil 1A.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.338G>T	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606261	0.66445	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.90620	-2.7;-2.7	5.63	4.67	0.58626	Filament (1);	0.124810	0.35838	N	0.002960	D	0.96849	0.8971	H	0.97587	4.035	0.34925	D	0.748842	D	0.71674	0.998	D	0.76071	0.987	D	0.99965	1.1815	10	0.87932	D	0	.	12.8507	0.57856	0.0:0.9245:0.0:0.0755	.	163	O76013	KRT36_HUMAN	M	113;163	ENSP00000377555:R113M;ENSP00000329165:R163M	ENSP00000329165:R163M	R	-	2	0	KRT36	36898474	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.907000	0.04067	1.392000	0.46585	0.563000	0.77884	AGG		0.577	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		8	61	1	0	3.09899e-07	1	3.63227e-07	8	61				
POT1	25913	broad.mit.edu	37	7	124493083	124493083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124493083T>C	ENST00000357628.3	-	10	1410	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	POT1_ENST00000393329.1_Missense_Mutation_p.Y140C	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	271	DNA binding.				DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCCCCGACCGTAACTGGTACC	0.348																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(811-813)tAc>tGc		protection of telomeres 1							113.0	107.0	109.0					7																	124493083		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124493083T>C	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.812A>G	7.37:g.124493083T>C	ENSP00000350249:p.Tyr271Cys					POT1_ENST00000393329.1_Missense_Mutation_p.Y140C	p.Y271C	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			10	1410	-			271			DNA binding.		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.812A>G	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756186	0.69648	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.55413	0.58;0.52	6.07	6.07	0.98685	Nucleic acid-binding, OB-fold-like (1);	0.182644	0.50627	D	0.000114	T	0.69967	0.3170	M	0.77103	2.36	0.50171	D	0.999854	D	0.89917	1.0	D	0.69824	0.966	T	0.73294	-0.4028	10	0.59425	D	0.04	0.1037	9.8216	0.40885	0.153:0.0:0.0:0.847	.	271	Q9NUX5	POTE1_HUMAN	C	271;140;271;271;271;270	ENSP00000350249:Y271C;ENSP00000377002:Y140C	ENSP00000265391:Y270C	Y	-	2	0	POT1	124280319	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.295000	0.51794	2.326000	0.78906	0.533000	0.62120	TAC		0.348	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			6	59	0	0	0	1	0	6	59				
CAMK2G	818	broad.mit.edu	37	10	75585056	75585056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75585056G>A	ENST00000305762.7	-	15	1072	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	CAMK2G_ENST00000444854.2_Silent_p.R147R|CAMK2G_ENST00000322680.3_Missense_Mutation_p.A347V|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Intron|CAMK2G_ENST00000423381.1_Missense_Mutation_p.A379V|CAMK2G_ENST00000394762.2_Intron|CAMK2G_ENST00000322635.3_Intron			Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	358					calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CTGCAAGGGCGCGGGCTCTTG	0.587																																						ENST00000423381.1																			0				kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15						c.(1135-1137)gCg>gTg		calcium/calmodulin-dependent protein kinase II gamma							161.0	132.0	142.0					10																	75585056		2203	4300	6503	SO:0001583	missense	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75585056G>A	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000305762.7:c.1073C>T	10.37:g.75585056G>A	ENSP00000307082:p.Ala358Val					CAMK2G_ENST00000372765.1_Intron|CAMK2G_ENST00000444854.2_Silent_p.R147R|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000394762.2_Intron|CAMK2G_ENST00000305762.7_Missense_Mutation_p.A358V|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000322635.3_Intron|CAMK2G_ENST00000322680.3_Missense_Mutation_p.A347V	p.A379V	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN			16	1259	-	Prostate(51;0.0112)		358					O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000305762.7	37	c.1136C>T		.	.	.	.	.	.	.	.	.	.	G	18.07	3.542524	0.65198	.	.	ENSG00000148660	ENST00000423381;ENST00000394763;ENST00000322680;ENST00000433289;ENST00000305762	T;T;T;T	0.68765	-0.29;-0.25;-0.35;-0.24	5.99	5.99	0.97316	Protein kinase-like domain (1);	0.487727	0.20730	N	0.086736	T	0.52996	0.1769	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.26318	0.001;0.024;0.007;0.001;0.001;0.146	B;B;B;B;B;B	0.23018	0.002;0.006;0.003;0.003;0.0;0.043	T	0.49476	-0.8936	10	0.44086	T	0.13	.	18.2507	0.90002	0.0:0.0:1.0:0.0	.	347;339;358;379;358;347	Q13555-2;B3KY86;Q13555-4;Q13555-6;Q13555;Q13555-8	.;.;.;.;KCC2G_HUMAN;.	V	379;358;347;282;358	ENSP00000410298:A379V;ENSP00000319060:A347V;ENSP00000393784:A282V;ENSP00000307082:A358V	ENSP00000307082:A358V	A	-	2	0	CAMK2G	75255062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.252000	0.72447	2.840000	0.97914	0.655000	0.94253	GCG		0.587	CAMK2G-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048718.1	NM_172169		24	54	0	0	0	1	0	24	54				
ZNF318	24149	broad.mit.edu	37	6	43307115	43307115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43307115G>A	ENST00000361428.2	-	10	4698	c.4621C>T	c.(4621-4623)Ccc>Tcc	p.P1541S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1541	Pro-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGAGAGGGGTGGTGGAGGA	0.488																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(4621-4623)Ccc>Tcc		zinc finger protein 318							62.0	53.0	56.0					6																	43307115		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307115G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4621C>T	6.37:g.43307115G>A	ENSP00000354964:p.Pro1541Ser					ZNF318_ENST00000318149.3_Intron	p.P1541S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	4698	-			1541			Pro-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.4621C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922897	0.52653	.	.	ENSG00000171467	ENST00000361428	T	0.16897	2.31	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.20292	0.0488	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04635	-1.0937	10	0.66056	D	0.02	-10.7034	16.8817	0.86065	0.0:0.0:1.0:0.0	.	1541	Q5VUA4	ZN318_HUMAN	S	1541	ENSP00000354964:P1541S	ENSP00000354964:P1541S	P	-	1	0	ZNF318	43415093	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.279000	0.58953	2.763000	0.94921	0.650000	0.86243	CCC		0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		4	41	0	0	0	1	0	4	41				
CCK	885	broad.mit.edu	37	3	42305084	42305084	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42305084T>C	ENST00000396169.2	-	4	944	c.39A>G	c.(37-39)gtA>gtG	p.V13V	CCK_ENST00000434608.1_Silent_p.V13V|CCK_ENST00000334681.5_Silent_p.V13V	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	13					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CAGCCGCCAGTACCGCCATCA	0.687																																						ENST00000396169.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(37-39)gtA>gtG		cholecystokinin							8.0	10.0	9.0					3																	42305084		2071	4081	6152	SO:0001819	synonymous_variant	885				axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	g.chr3:42305084T>C		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.39A>G	3.37:g.42305084T>C						CCK_ENST00000434608.1_Silent_p.V13V|CCK_ENST00000334681.5_Silent_p.V13V	p.V13V	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.219)	4	944	-		Ovarian(412;0.0728)	13						Silent	SNP	ENST00000396169.2	37	c.39A>G	CCDS2696.1																																																																																				0.687	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729		10	6	0	0	0	1	0	10	6				
KCNJ8	3764	broad.mit.edu	37	12	21919215	21919215	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21919215C>A	ENST00000240662.2	-	3	1062	c.717G>T	c.(715-717)gaG>gaT	p.E239D	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	239					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TAGGAACCACCTCCCCTTCAG	0.478																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(715-717)gaG>gaT		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						121.0	110.0	114.0					12																	21919215		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21919215C>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.717G>T	12.37:g.21919215C>A	ENSP00000240662:p.Glu239Asp					RP11-59N23.1_ENST00000542489.1_RNA	p.E239D	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1062	-			239					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.717G>T	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792027	0.70452	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.96334	-3.98	5.11	4.23	0.50019	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97810	0.9281	M	0.87547	2.89	0.52501	D	0.999959	D	0.63046	0.992	D	0.75484	0.986	D	0.97880	1.0291	10	0.87932	D	0	.	8.3701	0.32410	0.0:0.7791:0.0:0.2209	.	239	Q15842	IRK8_HUMAN	D	239	ENSP00000240662:E239D	ENSP00000240662:E239D	E	-	3	2	KCNJ8	21810482	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	1.641000	0.37197	1.393000	0.46605	0.563000	0.77884	GAG		0.478	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		16	43	1	0	1.99824e-07	1	2.35189e-07	16	43				
EFNA1	1942	broad.mit.edu	37	1	155103872	155103872	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155103872C>T	ENST00000368407.3	+	2	668	c.150C>T	c.(148-150)atC>atT	p.I50I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.I50I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	50	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGACATCATCTGTCCGCACT	0.537																																						ENST00000368407.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5						c.(148-150)atC>atT		ephrin-A1							114.0	85.0	94.0					1																	155103872		2203	4300	6503	SO:0001819	synonymous_variant	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155103872C>T		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.150C>T	1.37:g.155103872C>T						EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.I50I	p.I50I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	668	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		50					D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Silent	SNP	ENST00000368407.3	37	c.150C>T	CCDS1091.1																																																																																				0.537	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428		20	35	0	0	0	1	0	20	35				
ZDBF2	57683	broad.mit.edu	37	2	207173681	207173681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207173681G>A	ENST00000374423.3	+	5	4815	c.4429G>A	c.(4429-4431)Gac>Aac	p.D1477N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1477							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAGAGGCAGACCTTCAGAA	0.373																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4429-4431)Gac>Aac		zinc finger, DBF-type containing 2							65.0	66.0	66.0					2																	207173681		1912	4118	6030	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173681G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4429G>A	2.37:g.207173681G>A	ENSP00000363545:p.Asp1477Asn						p.D1477N	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	4815	+			1477					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.4429G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.752757	0.00663	.	.	ENSG00000204186	ENST00000374423	T	0.47177	0.85	3.76	-4.2	0.03823	.	.	.	.	.	T	0.20820	0.0501	N	0.05534	-0.03	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.27536	-1.0071	9	0.15066	T	0.55	.	7.2214	0.25990	0.2596:0.1658:0.5746:0.0	.	1477	Q9HCK1	ZDBF2_HUMAN	N	1477	ENSP00000363545:D1477N	ENSP00000363545:D1477N	D	+	1	0	ZDBF2	206881926	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.545000	0.23268	-0.815000	0.04346	-1.058000	0.02302	GAC		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	13	0	0	0	1	0	8	13				
MROH2B	133558	broad.mit.edu	37	5	41012745	41012745	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41012745C>A	ENST00000399564.4	-	30	3525	c.3075G>T	c.(3073-3075)aaG>aaT	p.K1025N	MROH2B_ENST00000506092.2_Missense_Mutation_p.K580N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1025																	TGCCACAGGCCTTTGTACAAG	0.448																																						ENST00000399564.4																			0											c.(3073-3075)aaG>aaT		maestro heat-like repeat family member 2B							112.0	111.0	111.0					5																	41012745		1928	4144	6072	SO:0001583	missense	133558							g.chr5:41012745C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3075G>T	5.37:g.41012745C>A	ENSP00000382476:p.Lys1025Asn					MROH2B_ENST00000506092.2_Missense_Mutation_p.K580N	p.K1025N	NM_173489.4	NP_775760.3					30	3525	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3075G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	9.959	1.222408	0.22457	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05139	3.49;3.49	6.04	3.3	0.37823	Armadillo-like helical (1);Armadillo-type fold (1);	0.809565	0.11214	N	0.587429	T	0.08313	0.0207	L	0.61218	1.895	0.33214	D	0.553809	B	0.06786	0.001	B	0.04013	0.001	T	0.07966	-1.0745	10	0.30078	T	0.28	.	7.2478	0.26131	0.3013:0.6212:0.0:0.0775	.	1025	Q7Z745	HTRB2_HUMAN	N	580;730;1025	ENSP00000441504:K580N;ENSP00000382476:K1025N	ENSP00000296803:K730N	K	-	3	2	HEATR7B2	41048502	0.961000	0.32948	0.616000	0.29078	0.233000	0.25261	0.987000	0.29603	0.435000	0.26365	0.561000	0.74099	AAG		0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		29	46	1	0	4.74835e-14	1	6.04786e-14	29	46				
DDX27	55661	broad.mit.edu	37	20	47850160	47850160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47850160G>A	ENST00000371764.4	+	11	1289	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	427						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTGTGAACAGCAACACAGAT	0.557																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1279-1281)aGc>aAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							129.0	123.0	125.0					20																	47850160		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47850160G>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1280G>A	20.37:g.47850160G>A	ENSP00000360828:p.Ser427Asn					DDX27_ENST00000484427.1_3'UTR	p.S427N	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	1289	+			427					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1280G>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620252	0.46736	.	.	ENSG00000124228	ENST00000371764	T	0.01560	4.77	5.97	5.97	0.96955	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.02571	0.0078	L	0.33668	1.02	0.58432	D	0.999997	B	0.29988	0.264	B	0.33799	0.17	T	0.65302	-0.6201	10	0.21014	T	0.42	-18.9031	17.9218	0.88969	0.0:0.0:1.0:0.0	.	427	Q96GQ7	DDX27_HUMAN	N	427	ENSP00000360828:S427N	ENSP00000360828:S427N	S	+	2	0	DDX27	47283567	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	9.631000	0.98424	2.837000	0.97791	0.655000	0.94253	AGC		0.557	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			36	85	0	0	0	1	0	36	85				
MTCH2	23788	broad.mit.edu	37	11	47640456	47640456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47640456C>A	ENST00000302503.3	-	13	998	c.841G>T	c.(841-843)Gga>Tga	p.G281*	MTCH2_ENST00000542981.1_Nonsense_Mutation_p.G133*|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	281					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGCTATTTCCTCGGCTCATA	0.413																																						ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(841-843)Gga>Tga		mitochondrial carrier 2							77.0	85.0	82.0					11																	47640456		2201	4298	6499	SO:0001587	stop_gained	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47640456C>A	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.841G>T	11.37:g.47640456C>A	ENSP00000303222:p.Gly281*					MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.G133*	p.G281*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			13	998	-			281					B2R7L8	Nonsense_Mutation	SNP	ENST00000302503.3	37	c.841G>T	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	C	37	6.305499	0.97458	.	.	ENSG00000109919	ENST00000302503;ENST00000542981	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.3062	0.73992	0.0:1.0:0.0:0.0	.	.	.	.	X	281;133	.	ENSP00000303222:G281X	G	-	1	0	MTCH2	47597032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.350000	0.66016	2.330000	0.79161	0.555000	0.69702	GGA		0.413	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		6	111	1	0	0.00198382	1	0.00210581	6	111				
ZNF611	81856	broad.mit.edu	37	19	53208596	53208596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53208596C>T	ENST00000319783.1	-	7	2028	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	ZNF611_ENST00000602162.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.C502Y|ZNF611_ENST00000543227.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGTCTTGCTGCACTCATTACA	0.408																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1711-1713)tGc>tAc		zinc finger protein 611							238.0	219.0	226.0					19																	53208596		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208596C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1712G>A	19.37:g.53208596C>T	ENSP00000322427:p.Cys571Tyr					ZNF611_ENST00000319783.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.C502Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.C502Y	p.C571Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1986	-			571					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1712G>A	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	9.268	1.044908	0.19748	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92024	0.7473	H	0.95224	3.64	0.29133	N	0.879514	D	0.54964	0.969	P	0.54856	0.762	D	0.86404	0.1744	9	0.66056	D	0.02	.	10.067	0.42311	0.0:1.0:0.0:0.0	.	571	Q8N823	ZN611_HUMAN	Y	571;571;502;571	ENSP00000437616:C571Y;ENSP00000439211:C571Y;ENSP00000443505:C502Y;ENSP00000322427:C571Y	ENSP00000322427:C571Y	C	-	2	0	ZNF611	57900408	0.707000	0.27866	0.129000	0.21949	0.050000	0.14768	2.573000	0.46007	0.835000	0.34877	0.313000	0.20887	TGC		0.408	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		79	136	0	0	0	1	0	79	136				
SPN	6693	broad.mit.edu	37	16	29676225	29676225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29676225C>T	ENST00000360121.3	+	2	1268	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	SPN_ENST00000395389.2_Silent_p.P392P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTGATGAGCCCGAAGGGGGAG	0.642																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(1174-1176)ccC>ccT		sialophorin							16.0	20.0	18.0					16																	29676225		2169	4278	6447	SO:0001819	synonymous_variant	0				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29676225C>T	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.1176C>T	16.37:g.29676225C>T						AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Silent_p.P392P	p.P392P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN			2	1268	+			392					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000360121.3	37	c.1176C>T	CCDS10650.1																																																																																				0.642	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			5	20	0	0	0	1	0	5	20				
STK31	56164	broad.mit.edu	37	7	23808768	23808768	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23808768T>C	ENST00000355870.3	+	12	1690	c.1571T>C	c.(1570-1572)gTa>gCa	p.V524A	STK31_ENST00000354639.3_Missense_Mutation_p.V501A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.V524A|STK31_ENST00000428484.1_Missense_Mutation_p.V501A	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	524						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACCGTCTTGTAGCATGGTTC	0.378																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1501-1503)gTa>gCa		serine/threonine kinase 31							77.0	78.0	78.0					7																	23808768		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23808768T>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1571T>C	7.37:g.23808768T>C	ENSP00000348132:p.Val524Ala					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.V501A|STK31_ENST00000355870.3_Missense_Mutation_p.V524A|STK31_ENST00000433467.2_Missense_Mutation_p.V524A	p.V501A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			12	1966	+			524					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1502T>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	T	4.567	0.105336	0.08731	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.70045	-0.45;1.28;-0.45;-0.45	5.3	1.12	0.20585	.	0.933689	0.09070	N	0.853071	T	0.49115	0.1538	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.31916	-0.9926	10	0.30854	T	0.27	0.0394	4.1197	0.10099	0.0:0.3015:0.1766:0.5219	.	524;524	B4DZ06;Q9BXU1	.;STK31_HUMAN	A	524;524;501;501	ENSP00000348132:V524A;ENSP00000411852:V524A;ENSP00000346660:V501A;ENSP00000406146:V501A	ENSP00000346660:V501A	V	+	2	0	STK31	23775293	0.001000	0.12720	0.016000	0.15963	0.212000	0.24457	0.982000	0.29539	0.314000	0.23086	0.533000	0.62120	GTA		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		39	94	0	0	0	1	0	39	94				
SLC23A2	9962	broad.mit.edu	37	20	4864408	4864408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4864408G>T	ENST00000379333.1	-	9	1096	c.704C>A	c.(703-705)cCt>cAt	p.P235H	SLC23A2_ENST00000468355.1_5'UTR|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P235H|SLC23A2_ENST00000424750.2_Intron	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	235					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAGAGCCCCAGGCAGGCCGAG	0.577																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(703-705)cCt>cAt		solute carrier family 23 (ascorbic acid transporter), member 2							90.0	79.0	83.0					20																	4864408		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4864408G>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.704C>A	20.37:g.4864408G>T	ENSP00000368637:p.Pro235His					SLC23A2_ENST00000338244.1_Missense_Mutation_p.P235H|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron	p.P235H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			9	1096	-			235					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.704C>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461310	0.84317	.	.	ENSG00000089057	ENST00000379333;ENST00000338244	T;T	0.17370	2.28;2.28	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.38993	-0.9635	10	0.72032	D	0.01	-17.8227	17.9771	0.89130	0.0:0.0:1.0:0.0	.	235;235	A0MSJ5;Q9UGH3	.;S23A2_HUMAN	H	235	ENSP00000368637:P235H;ENSP00000344322:P235H	ENSP00000344322:P235H	P	-	2	0	SLC23A2	4812408	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.578000	0.98200	2.826000	0.97356	0.655000	0.94253	CCT		0.577	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			7	70	1	0	3.09899e-07	1	3.63227e-07	7	70				
MYH7B	57644	broad.mit.edu	37	20	33575077	33575077	+	Silent	SNP	C	C	T	rs368379257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33575077C>T	ENST00000262873.7	+	14	1352	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	378	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGGAGGCCGATGGCACTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19028	0.0		0.0	False		,,,				2504	0.001					ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1258-1260)gcC>gcT		myosin, heavy chain 7B, cardiac muscle, beta		C		1,4405	2.1+/-5.4	0,1,2202	86.0	96.0	92.0		1260	-7.5	0.5	20		92	0,8600		0,0,4300	no	coding-synonymous	MYH7B	NM_020884.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		420/1984	33575077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575077C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1260C>T	20.37:g.33575077C>T							p.A420A	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		14	1352	+			378			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.1260C>T	CCDS42869.1																																																																																				0.562	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		44	59	0	0	0	1	0	44	59				
PLOD1	5351	broad.mit.edu	37	1	12034842	12034842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12034842G>A	ENST00000196061.4	+	19	2188	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	PLOD1_ENST00000376369.3_Missense_Mutation_p.A768T	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	721	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCGCTACATCGCAGTCTCCTT	0.622																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2161-2163)Gca>Aca		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						93.0	93.0	93.0					1																	12034842		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12034842G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.2161G>A	1.37:g.12034842G>A	ENSP00000196061:p.Ala721Thr					PLOD1_ENST00000376369.3_Missense_Mutation_p.A768T	p.A721T	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	19	2188	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	721			Fe2OG dioxygenase.		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.2161G>A	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002594	0.93227	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.77358	-1.09;-1.09	5.69	5.69	0.88448	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.098626	0.64402	D	0.000001	D	0.88680	0.6502	M	0.87180	2.865	0.58432	D	0.999994	D;D	0.69078	0.994;0.997	P;P	0.60236	0.788;0.871	D	0.89706	0.3908	10	0.59425	D	0.04	.	18.7934	0.91983	0.0:0.0:1.0:0.0	.	768;721	B4DR87;Q02809	.;PLOD1_HUMAN	T	385;768;721	ENSP00000365548:A768T;ENSP00000196061:A721T	ENSP00000196061:A721T	A	+	1	0	PLOD1	11957429	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.700000	0.74619	2.688000	0.91661	0.561000	0.74099	GCA		0.622	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		29	39	0	0	0	1	0	29	39				
NDUFS1	4719	broad.mit.edu	37	2	207006690	207006690	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207006690G>A	ENST00000233190.6	-	12	1503	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	NDUFS1_ENST00000423725.1_Silent_p.L356L|NDUFS1_ENST00000455934.2_Silent_p.L427L|NDUFS1_ENST00000457011.1_Silent_p.L297L|NDUFS1_ENST00000440274.1_Silent_p.L377L|NDUFS1_ENST00000449699.1_Silent_p.L413L|NDUFS1_ENST00000432169.1_Silent_p.L302L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	413					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCATTAAACAGTGGTGCCTCA	0.328																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1237-1239)Ctg>Ttg		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						89.0	85.0	86.0					2																	207006690		2203	4300	6503	SO:0001819	synonymous_variant	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207006690G>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1237C>T	2.37:g.207006690G>A						NDUFS1_ENST00000455934.2_Silent_p.L427L|NDUFS1_ENST00000440274.1_Silent_p.L377L|NDUFS1_ENST00000423725.1_Silent_p.L356L|NDUFS1_ENST00000432169.1_Silent_p.L302L|NDUFS1_ENST00000449699.1_Silent_p.L413L|NDUFS1_ENST00000457011.1_Silent_p.L297L	p.L413L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			12	1503	-			413					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	c.1237C>T	CCDS2366.1																																																																																				0.328	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		19	39	0	0	0	1	0	19	39				
NHLRC3	387921	broad.mit.edu	37	13	39622004	39622004	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39622004G>A	ENST00000379600.3	+	7	1307	c.985G>A	c.(985-987)Gca>Aca	p.A329T	NHLRC3_ENST00000379599.2_Missense_Mutation_p.A262T|NHLRC3_ENST00000470258.1_Missense_Mutation_p.A132T	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	329						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		AGAAATTGGAGCAAAACAAGT	0.393																																						ENST00000379600.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11						c.(985-987)Gca>Aca		NHL repeat containing 3							81.0	74.0	76.0					13																	39622004		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39622004G>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.985G>A	13.37:g.39622004G>A	ENSP00000368920:p.Ala329Thr					NHLRC3_ENST00000379599.2_Missense_Mutation_p.A262T|NHLRC3_ENST00000470258.1_Missense_Mutation_p.A132T	p.A329T	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	7	1307	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	329					B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.985G>A	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788119	0.90367	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	D;D;D	0.90133	-2.62;-2.62;-2.62	4.95	4.95	0.65309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94420	0.8205	M	0.68593	2.085	0.47214	D	0.999352	D;D	0.89917	1.0;0.968	D;P	0.74674	0.984;0.704	D	0.93965	0.7244	9	.	.	.	-21.8051	17.5692	0.87930	0.0:0.0:1.0:0.0	.	262;329	B4DTL0;Q5JS37	.;NHLC3_HUMAN	T	132;329;262	ENSP00000418127:A132T;ENSP00000368920:A329T;ENSP00000368919:A262T	.	A	+	1	0	NHLRC3	38520004	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.012000	0.76366	2.446000	0.82766	0.563000	0.77884	GCA		0.393	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		4	59	0	0	0	1	0	4	59				
RBM27	54439	broad.mit.edu	37	5	145664218	145664218	+	Missense_Mutation	SNP	C	C	T	rs367918153		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145664218C>T	ENST00000265271.5	+	20	3188	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1008					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGACCGTCGGCTACAGAT	0.373																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(3022-3024)Cgg>Tgg		RNA binding motif protein 27		C	TRP/ARG	1,3135		0,1,1567	107.0	103.0	104.0		3022	5.1	1.0	5		104	0,7164		0,0,3582	no	missense	RBM27	NM_018989.1	101	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	probably-damaging	1008/1061	145664218	1,10299	1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145664218C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.3022C>T	5.37:g.145664218C>T	ENSP00000265271:p.Arg1008Trp					RBM27_ENST00000506502.1_Intron	p.R1008W	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3188	+			1008					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.3022C>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929819	0.73327	3.19E-4	0.0	ENSG00000091009	ENST00000265271	T	0.45668	0.89	6.03	5.09	0.68999	.	0.073354	0.56097	D	0.000031	T	0.50069	0.1594	L	0.43923	1.385	0.38229	D	0.940973	D	0.71674	0.998	P	0.54590	0.756	T	0.54576	-0.8273	10	0.66056	D	0.02	-4.8311	16.0961	0.81127	0.2201:0.7799:0.0:0.0	.	1008	Q9P2N5	RBM27_HUMAN	W	1008	ENSP00000265271:R1008W	ENSP00000265271:R1008W	R	+	1	2	RBM27	145644411	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	2.305000	0.43664	2.861000	0.98227	0.655000	0.94253	CGG		0.373	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		29	71	0	0	0	1	0	29	71				
ANKRD49	54851	broad.mit.edu	37	11	94231653	94231653	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94231653C>A	ENST00000544612.1	+	3	1172	c.675C>A	c.(673-675)ctC>ctA	p.L225L	ANKRD49_ENST00000302755.4_Silent_p.L225L|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	225					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCACTACCTCTTTGAAATTG	0.398																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(673-675)ctC>ctA		ankyrin repeat domain 49							71.0	75.0	74.0					11																	94231653		2199	4296	6495	SO:0001819	synonymous_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231653C>A	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.675C>A	11.37:g.94231653C>A						ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.L225L	p.L225L	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	1172	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	225					Q8NDF2|Q96JE5|Q9NXK7	Silent	SNP	ENST00000544612.1	37	c.675C>A	CCDS8300.1																																																																																				0.398	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		9	106	1	0	9.70103e-10	1	1.18443e-09	9	106				
CCDC65	85478	broad.mit.edu	37	12	49298804	49298804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49298804C>T	ENST00000320516.4	+	2	396	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.R70W	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	70										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AACTGTCCTTCGGGAAGTCAA	0.448																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(208-210)Cgg>Tgg		coiled-coil domain containing 65							141.0	115.0	124.0					12																	49298804		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49298804C>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.208C>T	12.37:g.49298804C>T	ENSP00000312706:p.Arg70Trp					ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.R70W	p.R70W			Q8IXS2	CCD65_HUMAN			2	435	+			70					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.208C>T	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222383	0.58560	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.57595	0.89;0.39;0.91	5.0	0.683	0.17998	.	0.064020	0.64402	D	0.000013	T	0.73636	0.3612	M	0.84585	2.705	0.37134	D	0.901406	D	0.89917	1.0	D	0.97110	1.0	T	0.81632	-0.0845	10	0.87932	D	0	-16.8913	15.9943	0.80230	0.4394:0.5606:0.0:0.0	.	70	Q8IXS2	CCD65_HUMAN	W	70	ENSP00000266984:R70W;ENSP00000446569:R70W;ENSP00000312706:R70W	ENSP00000266984:R70W	R	+	1	2	CCDC65	47585071	1.000000	0.71417	0.541000	0.28102	0.973000	0.67179	1.737000	0.38197	0.070000	0.16634	-0.808000	0.03180	CGG		0.448	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		32	39	0	0	0	1	0	32	39				
SHPRH	257218	broad.mit.edu	37	6	146266768	146266768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146266768G>A	ENST00000367505.2	-	8	1591	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	SHPRH_ENST00000438092.2_Missense_Mutation_p.R443C|SHPRH_ENST00000367503.3_Missense_Mutation_p.R443C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R443C			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	443	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCATCACACGTGTAGCTAAA	0.313																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1327-1329)Cgt>Tgt		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							47.0	42.0	44.0					6																	146266768		1829	4088	5917	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146266768G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1327C>T	6.37:g.146266768G>A	ENSP00000356475:p.Arg443Cys					SHPRH_ENST00000438092.2_Missense_Mutation_p.R443C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R443C|SHPRH_ENST00000367505.2_Missense_Mutation_p.R443C	p.R443C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	8	1725	-		Ovarian(120;0.0365)	443			H15.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1327C>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214158	0.79352	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.5	4.58	0.56647	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);DEAD-like helicase (1);	0.000000	0.64402	D	0.000002	T	0.36331	0.0963	L	0.49350	1.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.10706	-1.0618	10	0.87932	D	0	-17.1166	14.3803	0.66907	0.0:0.0:0.7457:0.2543	.	332;443;443;332	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	C	443;443;443;443;332	ENSP00000356475:R443C;ENSP00000356473:R443C;ENSP00000412797:R443C;ENSP00000275233:R443C	ENSP00000275233:R443C	R	-	1	0	SHPRH	146308461	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.744000	0.68664	2.596000	0.87737	0.650000	0.86243	CGT		0.313	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		11	19	0	0	0	1	0	11	19				
OR10A5	144124	broad.mit.edu	37	11	6867382	6867382	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6867382G>T	ENST00000299454.4	+	1	500	c.469G>T	c.(469-471)Gct>Tct	p.A157S	OR10A5_ENST00000379831.2_Missense_Mutation_p.A161S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	157					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTTCCTGTAGCTACTGTGCA	0.542																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(469-471)Gct>Tct		olfactory receptor, family 10, subfamily A, member 5							125.0	120.0	122.0					11																	6867382		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867382G>T	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.469G>T	11.37:g.6867382G>T	ENSP00000299454:p.Ala157Ser					OR10A5_ENST00000379831.2_Missense_Mutation_p.A161S	p.A157S			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	500	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	157					O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.469G>T	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.246858	0.39697	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.35048	1.33;1.33	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.216636	0.32430	N	0.006103	T	0.15955	0.0384	N	0.05012	-0.13	0.36811	D	0.8859	P	0.41978	0.767	B	0.43274	0.414	T	0.21211	-1.0252	10	0.02654	T	1	.	8.5782	0.33612	0.0:0.0:0.7704:0.2295	.	157	Q9H207	O10A5_HUMAN	S	157;161	ENSP00000299454:A157S;ENSP00000369159:A161S	ENSP00000299454:A157S	A	+	1	0	OR10A5	6823958	0.003000	0.15002	1.000000	0.80357	0.957000	0.61999	1.313000	0.33585	2.269000	0.75478	0.591000	0.81541	GCT		0.542	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		44	56	1	0	2.68985e-26	1	3.58274e-26	44	56				
WDR33	55339	broad.mit.edu	37	2	128480179	128480179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128480179C>T	ENST00000322313.4	-	14	1662	c.1504G>A	c.(1504-1506)Gct>Act	p.A502T		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	502					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGAACTGAGCAGGAATGGGT	0.418																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1504-1506)Gct>Act		WD repeat domain 33							226.0	209.0	215.0					2																	128480179		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128480179C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1504G>A	2.37:g.128480179C>T	ENSP00000325377:p.Ala502Thr						p.A502T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	14	1662	-	Colorectal(110;0.1)		502					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1504G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445574	0.84101	.	.	ENSG00000136709	ENST00000322313	D	0.89552	-2.53	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.92267	0.7547	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.91322	0.5083	10	0.38643	T	0.18	-10.902	19.119	0.93355	0.0:1.0:0.0:0.0	.	502	Q9C0J8	WDR33_HUMAN	T	502	ENSP00000325377:A502T	ENSP00000325377:A502T	A	-	1	0	WDR33	128196649	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.512000	0.84698	0.650000	0.86243	GCT		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		8	131	0	0	0	1	0	8	131				
AKR1B10	57016	broad.mit.edu	37	7	134217814	134217814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134217814C>T	ENST00000359579.4	+	4	730	c.410C>T	c.(409-411)aCg>aTg	p.T137M	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	137					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAAAAGCAACGTTCTTGGAT	0.463																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(409-411)aCg>aTg		aldo-keto reductase family 1, member B10 (aldose reductase)							178.0	169.0	172.0					7																	134217814		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134217814C>T	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.410C>T	7.37:g.134217814C>T	ENSP00000352584:p.Thr137Met					AKR1B10_ENST00000475559.1_3'UTR	p.T137M	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN			4	730	+			137					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.410C>T	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608838	0.28623	.	.	ENSG00000198074	ENST00000359579	T	0.17370	2.28	4.68	2.62	0.31277	NADP-dependent oxidoreductase domain (3);	0.488841	0.22481	N	0.059486	T	0.12347	0.0300	L	0.32530	0.975	0.09310	N	1	B	0.28055	0.199	B	0.28232	0.087	T	0.19614	-1.0300	10	0.87932	D	0	.	7.0156	0.24887	0.278:0.3696:0.3524:0.0	.	137	O60218	AK1BA_HUMAN	M	137	ENSP00000352584:T137M	ENSP00000352584:T137M	T	+	2	0	AKR1B10	133868354	0.000000	0.05858	0.015000	0.15790	0.240000	0.25518	0.033000	0.13754	1.068000	0.40764	0.556000	0.70494	ACG		0.463	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		45	135	0	0	0	1	0	45	135				
ABHD15	116236	broad.mit.edu	37	17	27893163	27893163	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27893163G>A	ENST00000307201.4	-	1	992	c.822C>T	c.(820-822)gcC>gcT	p.A274A	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	274						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGGGCAGGCCGGCCTCGAACC	0.667																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(820-822)gcC>gcT		abhydrolase domain containing 15							24.0	29.0	27.0					17																	27893163		2195	4280	6475	SO:0001819	synonymous_variant	116236					extracellular region	carboxylesterase activity	g.chr17:27893163G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.822C>T	17.37:g.27893163G>A						RP11-68I3.2_ENST00000581474.1_RNA	p.A274A	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			1	992	-			274					Q96EC5	Silent	SNP	ENST00000307201.4	37	c.822C>T	CCDS32602.1																																																																																				0.667	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		7	18	0	0	0	1	0	7	18				
APOBEC1	339	broad.mit.edu	37	12	7805417	7805417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7805417G>T	ENST00000229304.4	-	3	79	c.59C>A	c.(58-60)cCc>cAc	p.P20H		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	20					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAACTCCCAGGGTTCGATTCT	0.463																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(58-60)cCc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							46.0	47.0	46.0					12																	7805417		2198	4296	6494	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805417G>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.59C>A	12.37:g.7805417G>T	ENSP00000229304:p.Pro20His						p.P20H	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			3	79	-			20					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.59C>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997302	0.35226	.	.	ENSG00000111701	ENST00000229304	T	0.63255	-0.03	4.48	4.48	0.54585	APOBEC-like, N-terminal (1);	0.114013	0.40144	N	0.001172	T	0.80347	0.4606	M	0.88906	2.99	0.32938	D	0.517984	D	0.76494	0.999	D	0.69479	0.964	D	0.86942	0.2080	10	0.62326	D	0.03	-25.7268	13.0361	0.58873	0.0:0.0:1.0:0.0	.	20	P41238	ABEC1_HUMAN	H	20	ENSP00000229304:P20H	ENSP00000229304:P20H	P	-	2	0	APOBEC1	7696684	0.313000	0.24554	0.991000	0.47740	0.018000	0.09664	2.293000	0.43558	2.224000	0.72417	0.462000	0.41574	CCC		0.463	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		5	41	1	0	0.00198382	1	0.00210581	5	41				
PAN2	9924	broad.mit.edu	37	12	56720656	56720656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56720656A>G	ENST00000425394.2	-	7	1383	c.1007T>C	c.(1006-1008)tTt>tCt	p.F336S	PAN2_ENST00000548043.1_Missense_Mutation_p.F336S|PAN2_ENST00000257931.5_Missense_Mutation_p.F336S|PAN2_ENST00000440411.3_Missense_Mutation_p.F336S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGACACATCAAATGTCATTAG	0.557																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1006-1008)tTt>tCt		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							91.0	91.0	91.0					12																	56720656		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720656A>G	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1007T>C	12.37:g.56720656A>G	ENSP00000401721:p.Phe336Ser					PAN2_ENST00000548043.1_Missense_Mutation_p.F336S|PAN2_ENST00000257931.5_Missense_Mutation_p.F336S|PAN2_ENST00000440411.3_Missense_Mutation_p.F336S	p.F336S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			7	1383	-			336						Missense_Mutation	SNP	ENST00000425394.2	37	c.1007T>C	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972925	0.92919	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050375	0.85682	D	0.000000	T	0.29061	0.0722	M	0.71206	2.165	0.80722	D	1	D;P;P	0.62365	0.991;0.856;0.937	P;P;P	0.60949	0.881;0.605;0.482	T	0.01600	-1.1315	10	0.87932	D	0	-7.6201	14.4526	0.67394	1.0:0.0:0.0:0.0	.	336;336;336	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	336	ENSP00000401721:F336S;ENSP00000388231:F336S;ENSP00000257931:F336S;ENSP00000449861:F336S	ENSP00000257931:F336S	F	-	2	0	PAN2	55006923	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.009000	0.93606	2.302000	0.77476	0.533000	0.62120	TTT		0.557	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		25	57	0	0	0	1	0	25	57				
NAA16	79612	broad.mit.edu	37	13	41943238	41943238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41943238C>T	ENST00000379406.3	+	15	2090	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	589					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AACTTGTCAGCCAAAGAATTG	0.338																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1765-1767)gCc>gTc		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							80.0	87.0	85.0					13																	41943238		2203	4300	6503	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41943238C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1766C>T	13.37:g.41943238C>T	ENSP00000368716:p.Ala589Val					NAA16_ENST00000497143.1_3'UTR	p.A589V	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			15	2090	+			589					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1766C>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327558	0.41197	.	.	ENSG00000172766	ENST00000379406	T	0.47528	0.84	5.67	4.81	0.61882	.	0.246782	0.35805	N	0.002973	T	0.39436	0.1078	L	0.38175	1.15	0.80722	D	1	B	0.28258	0.205	B	0.29077	0.098	T	0.16217	-1.0410	10	0.30078	T	0.28	-1.589	14.2192	0.65815	0.1493:0.8507:0.0:0.0	.	589	Q6N069	NAA16_HUMAN	V	589	ENSP00000368716:A589V	ENSP00000368716:A589V	A	+	2	0	NAA16	40841238	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.966000	0.63715	1.348000	0.45733	0.655000	0.94253	GCC		0.338	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		18	51	0	0	0	1	0	18	51				
SSPN	8082	broad.mit.edu	37	12	26383931	26383931	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383931A>G	ENST00000242729.2	+	3	831	c.654A>G	c.(652-654)aaA>aaG	p.K218K	RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000541940.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|SSPN_ENST00000422622.2_Silent_p.K115K|SSPN_ENST00000540266.1_Silent_p.K115K|RP11-283G6.4_ENST00000540392.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	218					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TGATGTGGAAACATAGGTACC	0.488																																						ENST00000242729.2																			0				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(652-654)aaA>aaG		sarcospan							161.0	149.0	153.0					12																	26383931		2203	4300	6503	SO:0001819	synonymous_variant	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26383931A>G	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.654A>G	12.37:g.26383931A>G						SSPN_ENST00000422622.2_Silent_p.K115K|SSPN_ENST00000535504.1_Intron|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000540266.1_Silent_p.K115K|RP11-283G6.5_ENST00000540625.1_RNA	p.K218K	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN			3	831	+	Colorectal(261;0.0847)		218					B3KS67	Silent	SNP	ENST00000242729.2	37	c.654A>G	CCDS8707.1																																																																																				0.488	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		33	48	0	0	0	1	0	33	48				
YLPM1	56252	broad.mit.edu	37	14	75248346	75248346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75248346C>T	ENST00000552421.1	+	4	1724	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P534S|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTACAATGCCCCCTCCAGT	0.532																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1600-1602)Ccc>Tcc		YLP motif containing 1							206.0	216.0	213.0					14																	75248346		2106	4205	6311	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248346C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1600C>T	14.37:g.75248346C>T	ENSP00000447921:p.Pro534Ser					YLPM1_ENST00000552421.1_Missense_Mutation_p.P534S|YLPM1_ENST00000238571.3_Intron	p.P534S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1724	+			341					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.1600C>T		.	.	.	.	.	.	.	.	.	.	C	14.18	2.458915	0.43634	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.69575	0.3126	L	0.48642	1.525	0.80722	D	1	P	0.43633	0.813	P	0.53954	0.738	T	0.67635	-0.5620	8	0.42905	T	0.14	.	17.0187	0.86427	0.0:1.0:0.0:0.0	.	534	P49750-4	.	S	534;534;247	.	ENSP00000324463:P534S	P	+	1	0	YLPM1	74318099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.220000	0.51207	2.621000	0.88768	0.591000	0.81541	CCC		0.532	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		51	73	0	0	0	1	0	51	73				
CDV3	55573	broad.mit.edu	37	3	133306798	133306798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133306798G>A	ENST00000264993.3	+	5	1000	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CDV3_ENST00000515421.1_Intron|CDV3_ENST00000508481.1_Missense_Mutation_p.E127K|CDV3_ENST00000420115.2_3'UTR	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	229					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				kidney(3)|lung(1)|prostate(1)	5						AGGTAGGGATGAGGTTTCAAA	0.368																																						ENST00000264993.3																			0				kidney(3)|lung(1)|prostate(1)	5						c.(685-687)Gag>Aag		CDV3 homolog (mouse)							85.0	92.0	89.0					3																	133306798		2203	4300	6503	SO:0001583	missense	55573				cell proliferation	cytoplasm		g.chr3:133306798G>A	AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.685G>A	3.37:g.133306798G>A	ENSP00000264993:p.Glu229Lys					CDV3_ENST00000508481.1_Missense_Mutation_p.E127K|CDV3_ENST00000515421.1_Intron|CDV3_ENST00000420115.2_3'UTR	p.E229K	NM_001134422.1|NM_017548.4	NP_001127894.1|NP_060018.1	Q9UKY7	CDV3_HUMAN			5	1000	+			229					B3KUC2|Q96IP9	Missense_Mutation	SNP	ENST00000264993.3	37	c.685G>A	CCDS3079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.324086|5.324086	0.95708|0.95708	.|.	.|.	ENSG00000091527|ENSG00000091527	ENST00000264993;ENST00000508481|ENST00000503932	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.178940|.	0.53938|.	N|.	0.000059|.	T|T	0.78278|0.78278	0.4258|0.4258	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.78314|.	0.991|.	T|T	0.78455|0.78455	-0.2197|-0.2197	9|5	0.38643|.	T|.	0.18|.	.|.	19.2082|19.2082	0.93744|0.93744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229|.	Q9UKY7|.	CDV3_HUMAN|.	K|I	229;127|182	.|.	ENSP00000264993:E229K|.	E|M	+|+	1|3	0|0	CDV3|CDV3	134789488|134789488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.150000|9.150000	0.94667|0.94667	2.558000|2.558000	0.86282|0.86282	0.585000|0.585000	0.79938|0.79938	GAG|ATG		0.368	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1	NM_017548		41	66	0	0	0	1	0	41	66				
TIAM2	26230	broad.mit.edu	37	6	155451209	155451209	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451209C>T	ENST00000461783.3	+	6	2125	c.852C>T	c.(850-852)ggC>ggT	p.G284G	TIAM2_ENST00000529824.2_Silent_p.G284G|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.G284G|TIAM2_ENST00000360366.4_Silent_p.G284G|TIAM2_ENST00000456144.1_Silent_p.G284G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	284					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCCACCTGGCGATGCCAAAA	0.622																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(850-852)ggC>ggT		T-cell lymphoma invasion and metastasis 2							58.0	55.0	56.0					6																	155451209		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451209C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.852C>T	6.37:g.155451209C>T						TIAM2_ENST00000456144.1_Silent_p.G284G|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.G284G|TIAM2_ENST00000529824.2_Silent_p.G284G|TIAM2_ENST00000318981.5_Silent_p.G284G	p.G284G			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2125	+		Ovarian(120;0.196)	284					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.852C>T	CCDS34558.1																																																																																				0.622	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	50	0	0	0	1	0	6	50				
KDM4A	9682	broad.mit.edu	37	1	44149371	44149371	+	Missense_Mutation	SNP	T	T	C	rs537146862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44149371T>C	ENST00000372396.3	+	12	1885	c.1751T>C	c.(1750-1752)aTg>aCg	p.M584T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	584					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGAATACATGTTTTCCCTA	0.468																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1750-1752)aTg>aCg		lysine (K)-specific demethylase 4A							86.0	86.0	86.0					1																	44149371		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44149371T>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1751T>C	1.37:g.44149371T>C	ENSP00000361473:p.Met584Thr						p.M584T	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			12	1885	+			584					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1751T>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	T	4.698	0.129876	0.08981	.	.	ENSG00000066135	ENST00000372396	T	0.14266	2.52	4.98	4.98	0.66077	.	1.082590	0.06780	N	0.785162	T	0.12178	0.0296	L	0.29908	0.895	0.25734	N	0.985236	B	0.16396	0.017	B	0.12156	0.007	T	0.29150	-1.0021	10	0.06365	T	0.9	-13.4446	15.0979	0.72250	0.0:0.0:0.0:1.0	.	584	O75164	KDM4A_HUMAN	T	584	ENSP00000361473:M584T	ENSP00000361473:M584T	M	+	2	0	KDM4A	43921958	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	4.040000	0.57333	2.185000	0.69588	0.451000	0.29950	ATG		0.468	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		5	65	0	0	0	1	0	5	65				
SPTA1	6708	broad.mit.edu	37	1	158614141	158614141	+	Missense_Mutation	SNP	G	G	A	rs201399968		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158614141G>A	ENST00000368147.4	-	30	4420	c.4240C>T	c.(4240-4242)Cgt>Tgt	p.R1414C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1414					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTCTCACGTGCCACCATC	0.473																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4240-4242)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	CYS/ARG	0,3924		0,0,1962	109.0	106.0	107.0		4240	4.1	1.0	1		107	3,8309		0,3,4153	yes	missense	SPTA1	NM_003126.2	180	0,3,6115	AA,AG,GG		0.0361,0.0,0.0245	probably-damaging	1414/2420	158614141	3,12233	1962	4156	6118	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614141G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4240C>T	1.37:g.158614141G>A	ENSP00000357129:p.Arg1414Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1414C	p.R1414C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			30	4420	-	all_hematologic(112;0.0378)		1414					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4240C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114832	0.77210	0.0	3.61E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	5.03	4.09	0.47781	.	0.000000	0.32444	N	0.006099	T	0.64193	0.2576	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72663	-0.4225	10	0.87932	D	0	.	13.6994	0.62599	0.0:0.0:0.8445:0.1555	.	1414	P02549	SPTA1_HUMAN	C	1414	ENSP00000357130:R1414C;ENSP00000357129:R1414C	ENSP00000357129:R1414C	R	-	1	0	SPTA1	156880765	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.965000	0.56788	1.421000	0.47157	0.591000	0.81541	CGT		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		23	45	0	0	0	1	0	23	45				
IRF9	10379	broad.mit.edu	37	14	24633164	24633164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24633164G>T	ENST00000396864.3	+	5	860	c.573G>T	c.(571-573)caG>caT	p.Q191H	IRF9_ENST00000557894.1_Missense_Mutation_p.Q89H|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	191					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTGAGCCACAGGAAGGTACCA	0.607																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(571-573)caG>caT		interferon regulatory factor 9							63.0	66.0	65.0					14																	24633164		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633164G>T	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.573G>T	14.37:g.24633164G>T	ENSP00000380073:p.Gln191His					IRF9_ENST00000557894.1_Missense_Mutation_p.Q89H|RP11-468E2.4_ENST00000558468.1_3'UTR	p.Q191H	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	860	+			191					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.573G>T	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041257	0.55003	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.98876	-4.24;-5.2	4.15	3.27	0.37495	.	1.481810	0.04553	U	0.390191	D	0.96673	0.8914	L	0.46157	1.445	0.26896	N	0.967219	B;B	0.12630	0.006;0.001	B;B	0.10450	0.005;0.003	D	0.90276	0.4311	10	0.15066	T	0.55	-2.3095	7.9695	0.30119	0.1102:0.0:0.8898:0.0	.	191;191	B4DI86;Q00978	.;IRF9_HUMAN	H	191;121	ENSP00000380073:Q191H;ENSP00000313529:Q121H	ENSP00000313529:Q121H	Q	+	3	2	IRF9	23703004	0.996000	0.38824	0.997000	0.53966	0.936000	0.57629	0.510000	0.22723	1.358000	0.45922	0.462000	0.41574	CAG		0.607	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			8	61	1	0	0.00448238	1	0.00472561	8	61				
ITGB6	3694	broad.mit.edu	37	2	160994116	160994116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160994116G>T	ENST00000283249.2	-	10	1726	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	ITGB6_ENST00000428609.2_Missense_Mutation_p.L455M|ITGB6_ENST00000409872.1_Missense_Mutation_p.L497M|ITGB6_ENST00000409967.2_Missense_Mutation_p.L497M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	497	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTGTGCTCAGCATGTCCTCG	0.607																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1489-1491)Ctg>Atg		integrin, beta 6							74.0	62.0	66.0					2																	160994116		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994116G>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1489C>A	2.37:g.160994116G>T	ENSP00000283249:p.Leu497Met					ITGB6_ENST00000409872.1_Missense_Mutation_p.L497M|ITGB6_ENST00000428609.2_Missense_Mutation_p.L455M|ITGB6_ENST00000409967.2_Missense_Mutation_p.L497M	p.L497M			P18564	ITB6_HUMAN			10	1726	-			497			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1489C>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	7.308	0.614425	0.14129	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.39	1.03	0.20045	.	0.490930	0.21206	N	0.078388	T	0.58104	0.2099	L	0.56769	1.78	0.25172	N	0.990274	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.49890	-0.8891	10	0.33940	T	0.23	.	10.2763	0.43512	0.0:0.2508:0.5037:0.2456	.	455;497	E9PEE8;P18564	.;ITB6_HUMAN	M	497;455;497;497	ENSP00000283249:L497M;ENSP00000408024:L455M;ENSP00000386828:L497M;ENSP00000386367:L497M	ENSP00000283249:L497M	L	-	1	2	ITGB6	160702362	0.242000	0.23868	0.319000	0.25293	0.492000	0.33523	0.620000	0.24403	0.272000	0.22027	0.655000	0.94253	CTG		0.607	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		6	44	1	0	3.59834e-05	1	4.01776e-05	6	44				
ZBTB49	166793	broad.mit.edu	37	4	4303755	4303755	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4303755T>C	ENST00000337872.4	+	3	313	c.192T>C	c.(190-192)gtT>gtC	p.V64V	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.V64V	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGAATGATGTTTTTCACTTGG	0.363																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(190-192)gtT>gtC		zinc finger and BTB domain containing 49							86.0	83.0	84.0					4																	4303755		2203	4300	6503	SO:0001819	synonymous_variant	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4303755T>C	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.192T>C	4.37:g.4303755T>C						ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.V64V	p.V64V	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			3	313	+			64			BTB.		Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	c.192T>C	CCDS3375.1																																																																																				0.363	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		7	66	0	0	0	1	0	7	66				
DNAH10	196385	broad.mit.edu	37	12	124285903	124285903	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124285903G>A	ENST00000409039.3	+	15	2209	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	728	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGAGTCTGTGCTTCTCAAAG	0.443																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2182-2184)gtG>gtA		dynein, axonemal, heavy chain 10							264.0	229.0	241.0					12																	124285903		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124285903G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2184G>A	12.37:g.124285903G>A							p.V728V	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	15	2209	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		728			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.2184G>A	CCDS9255.2																																																																																				0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			12	144	0	0	0	1	0	12	144				
PFKFB1	5207	broad.mit.edu	37	X	54975618	54975618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54975618C>T	ENST00000375006.3	-	9	953	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.G230S	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	295	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GAGCTGATGCCCTGGGACTGA	0.572																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(883-885)Ggc>Agc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							78.0	54.0	62.0					X																	54975618		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54975618C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.883G>A	X.37:g.54975618C>T	ENSP00000364145:p.Gly295Ser					PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.G230S	p.G295S	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			9	953	-			295			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.883G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649277	0.29336	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	T;T	0.72835	-0.69;-0.69	4.28	-1.96	0.07525	Histidine phosphatase superfamily, clade-1 (2);	1.121990	0.06378	N	0.714678	T	0.49525	0.1562	N	0.21240	0.645	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.12156	0.0;0.007	T	0.17592	-1.0364	10	0.31617	T	0.26	0.0686	0.8548	0.01180	0.237:0.2521:0.1163:0.3946	.	230;295	B4DUN5;P16118	.;F261_HUMAN	S	295;230	ENSP00000364145:G295S;ENSP00000444074:G230S	ENSP00000364145:G295S	G	-	1	0	PFKFB1	54992343	0.000000	0.05858	0.015000	0.15790	0.986000	0.74619	-0.886000	0.04157	-0.758000	0.04690	0.431000	0.28591	GGC		0.572	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			14	12	0	0	0	1	0	14	12				
IGHG4	3503	broad.mit.edu	37	14	106090834	106090834	+	RNA	SNP	G	G	T	rs187610779	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106090834G>T	ENST00000390543.2	-	0	962							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GAGACAGGGAGAGGCTCTTCT	0.622																																						ENST00000390543.2																			0															G		0,3896		0,0,1948	84.0	127.0	113.0			1.3	0.0	14		113	3,8317		0,3,4157	no	intergenic				0,3,6105	TT,TG,GG		0.0361,0.0,0.0246			106090834	3,12213	1948	4160	6108			0							g.chr14:106090834G>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090834G>T														0	962	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.622	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		9	142	1	0	3.09899e-07	1	3.63227e-07	9	142				
PDE6C	5146	broad.mit.edu	37	10	95394638	95394638	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95394638G>A	ENST00000371447.3	+	9	1381	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	415	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AAAACCTTTCGATGAGCATGA	0.363																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1243-1245)Gat>Aat		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							131.0	107.0	115.0					10																	95394638		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95394638G>A	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1243G>A	10.37:g.95394638G>A	ENSP00000360502:p.Asp415Asn						p.D415N	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			9	1381	+		Colorectal(252;0.123)	415			GAF 2.		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1243G>A	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014437	0.93404	.	.	ENSG00000095464	ENST00000371447	T	0.69926	-0.44	4.87	4.87	0.63330	GAF (2);	0.087810	0.85682	D	0.000000	T	0.82157	0.4976	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.82623	-0.0366	10	0.45353	T	0.12	.	18.5547	0.91080	0.0:0.0:1.0:0.0	.	415	P51160	PDE6C_HUMAN	N	415	ENSP00000360502:D415N	ENSP00000360502:D415N	D	+	1	0	PDE6C	95384628	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.208000	0.95075	2.677000	0.91161	0.655000	0.94253	GAT		0.363	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		23	21	0	0	0	1	0	23	21				
TMEM234	56063	broad.mit.edu	37	1	32688215	32688215	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32688215C>T	ENST00000344461.3	-	0	0				EIF3I_ENST00000373586.1_Missense_Mutation_p.T27I|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000309777.6_5'Flank|TMEM234_ENST00000545122.1_5'Flank|TMEM234_ENST00000373593.1_5'Flank			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						CTCCTCTTTACTGTGGCCAAG	0.587																																						ENST00000373586.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(79-81)aCt>aTt		eukaryotic translation initiation factor 3, subunit I							65.0	65.0	65.0					1																	32688215		2203	4300	6503	SO:0001631	upstream_gene_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32688215C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32688215C>T	Exception_encountered					EIF3I_ENST00000471486.1_3'UTR	p.T27I	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN			2	152	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	27					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.80C>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.659576	0.88154	.	.	ENSG00000084623	ENST00000355082;ENST00000373586	T;T	0.67523	-0.27;-0.27	4.1	3.15	0.36227	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054581	0.85682	D	0.000000	D	0.83866	0.5347	H	0.94771	3.58	0.51233	D	0.999911	P	0.46621	0.881	P	0.57720	0.826	D	0.88163	0.2859	10	0.87932	D	0	-30.124	13.8062	0.63233	0.0:0.845:0.155:0.0	.	27	Q13347	EIF3I_HUMAN	I	27	ENSP00000347194:T27I;ENSP00000362688:T27I	ENSP00000347194:T27I	T	+	2	0	EIF3I	32460802	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	7.144000	0.77357	1.021000	0.39600	0.557000	0.71058	ACT		0.587	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		22	33	0	0	0	1	0	22	33				
ATP8A1	10396	broad.mit.edu	37	4	42445621	42445621	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42445621C>T	ENST00000381668.5	-	33	3315	c.3084G>A	c.(3082-3084)ctG>ctA	p.L1028L	ATP8A1_ENST00000264449.10_Silent_p.L1013L|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1028					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCAGGCCACAGAGATGAGT	0.438																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3082-3084)ctG>ctA		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						116.0	106.0	109.0					4																	42445621		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42445621C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3084G>A	4.37:g.42445621C>T						ATP8A1_ENST00000264449.10_Silent_p.L1013L	p.L1028L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			33	3315	-			1028					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.3084G>A	CCDS3466.1																																																																																				0.438	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		9	15	0	0	0	1	0	9	15				
CD109	135228	broad.mit.edu	37	6	74468752	74468752	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74468752G>T	ENST00000287097.5	+	7	870		c.e7+1		CD109_ENST00000437994.2_Splice_Site|CD109_ENST00000422508.2_Splice_Site			Q6YHK3	CD109_HUMAN	CD109 molecule						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACGGCAAAGTAAGTGTCAT	0.313																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e7+1		CD109 molecule							79.0	75.0	76.0					6																	74468752		2203	4298	6501	SO:0001630	splice_region_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74468752G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.758+1G>T	6.37:g.74468752G>T						CD109_ENST00000287097.5_Splice_Site|CD109_ENST00000422508.2_Splice_Site		NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			7	1189	+								A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Splice_Site	SNP	ENST00000287097.5	37		CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013302	0.35511	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.587	0.87984	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD109	74525473	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	5.477000	0.66799	2.691000	0.91804	0.462000	0.41574	.		0.313	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	Intron	7	21	1	0	1.06961e-07	1	1.26574e-07	7	21				
TCEB3B	51224	broad.mit.edu	37	18	44559863	44559863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559863C>A	ENST00000332567.4	-	1	2125	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	591	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGAAGTCCTGGAAACAAT	0.512																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1771-1773)caG>caT		transcription elongation factor B polypeptide 3B (elongin A2)							61.0	61.0	61.0					18																	44559863		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559863C>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1773G>T	18.37:g.44559863C>A	ENSP00000331302:p.Gln591His					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.Q591H	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2125	-			591			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1773G>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840544	0.16891	.	.	ENSG00000206181	ENST00000332567	T	0.32988	1.43	1.4	-1.22	0.09494	.	0.529435	0.15457	N	0.261301	T	0.32194	0.0821	L	0.59436	1.845	0.22389	N	0.999142	P	0.42248	0.774	P	0.47915	0.561	T	0.21008	-1.0258	10	0.72032	D	0.01	-3.3672	5.1793	0.15152	0.0:0.3634:0.0:0.6366	.	591	Q8IYF1	ELOA2_HUMAN	H	591	ENSP00000331302:Q591H	ENSP00000331302:Q591H	Q	-	3	2	TCEB3B	42813861	0.605000	0.26941	0.000000	0.03702	0.001000	0.01503	-0.323000	0.07997	-0.351000	0.08249	-0.908000	0.02827	CAG		0.512	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		7	70	1	0	0.00198382	1	0.00210581	7	70				
KIAA0753	9851	broad.mit.edu	37	17	6515250	6515250	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515250C>A	ENST00000361413.3	-	8	1892	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	512						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTCTTGCTGGCGCCAGA	0.443																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1534-1536)Gca>Tca		KIAA0753							209.0	198.0	202.0					17																	6515250		1884	4114	5998	SO:0001583	missense	9851					centrosome		g.chr17:6515250C>A		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1534G>T	17.37:g.6515250C>A	ENSP00000355250:p.Ala512Ser					KIAA0753_ENST00000572370.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000589033.1_Intron	p.A512S	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	8	1892	-			512					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1534G>T	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769438	0.31320	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86230	-2.09;-2.09	4.69	1.67	0.24075	.	0.596147	0.18187	N	0.148943	D	0.82637	0.5080	M	0.72118	2.19	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.68914	-0.5283	10	0.22706	T	0.39	-0.011	6.846	0.23988	0.0:0.7169:0.0:0.2831	.	512	Q2KHM9	K0753_HUMAN	S	512;213	ENSP00000355250:A512S;ENSP00000444634:A213S	ENSP00000355250:A512S	A	-	1	0	KIAA0753	6455974	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.053000	0.14184	0.473000	0.27368	-0.140000	0.14226	GCA		0.443	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		65	123	1	0	1.08241e-25	1	1.44005e-25	65	123				
PDE6C	5146	broad.mit.edu	37	10	95418727	95418727	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95418727A>G	ENST00000371447.3	+	17	2244	c.2106A>G	c.(2104-2106)aaA>aaG	p.K702K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	702					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AAGCCATCAAATATGTAACTG	0.318																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(2104-2106)aaA>aaG		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							102.0	100.0	101.0					10																	95418727		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95418727A>G	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2106A>G	10.37:g.95418727A>G							p.K702K	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			17	2244	+		Colorectal(252;0.123)	702					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.2106A>G	CCDS7429.1																																																																																				0.318	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		6	53	0	0	0	1	0	6	53				
CRTAM	56253	broad.mit.edu	37	11	122726544	122726544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122726544C>T	ENST00000227348.4	+	5	679	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTAGTAGCACCCTTCCGGTTT	0.368																																						ENST00000227348.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19						c.(631-633)cCc>cTc		cytotoxic and regulatory T cell molecule							82.0	78.0	79.0					11																	122726544		2202	4299	6501	SO:0001583	missense	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122726544C>T	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.632C>T	11.37:g.122726544C>T	ENSP00000227348:p.Pro211Leu						p.P211L	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	5	679	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	211						Missense_Mutation	SNP	ENST00000227348.4	37	c.632C>T	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264743	0.23136	.	.	ENSG00000109943	ENST00000227348	T	0.55930	0.49	4.86	3.95	0.45737	.	0.739711	0.13316	N	0.397071	T	0.45337	0.1337	L	0.59436	1.845	0.47308	D	0.99938	P	0.49635	0.926	B	0.37451	0.25	T	0.36529	-0.9744	10	0.23302	T	0.38	.	12.3956	0.55382	0.0:0.9158:0.0:0.0842	.	211	O95727	CRTAM_HUMAN	L	211	ENSP00000227348:P211L	ENSP00000227348:P211L	P	+	2	0	CRTAM	122231754	0.015000	0.18098	0.119000	0.21687	0.268000	0.26511	2.380000	0.44327	1.187000	0.43000	0.462000	0.41574	CCC		0.368	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		24	29	0	0	0	1	0	24	29				
C10orf12	26148	broad.mit.edu	37	10	98741970	98741970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741970C>T	ENST00000286067.2	+	1	930	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	275										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGTTTCACCTCGAAAAGAACC	0.522																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(823-825)Cga>Tga		chromosome 10 open reading frame 12							79.0	83.0	82.0					10																	98741970		2203	4300	6503	SO:0001587	stop_gained	26148							g.chr10:98741970C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.823C>T	10.37:g.98741970C>T	ENSP00000286067:p.Arg275*						p.R275*	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	930	+		Colorectal(252;0.172)	275					Q9H945|Q9Y457	Nonsense_Mutation	SNP	ENST00000286067.2	37	c.823C>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487813	0.64074	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	.	.	.	6.05	4.01	0.46588	.	1.115670	0.06933	N	0.811417	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-2.2557	3.6491	0.08196	0.1675:0.2786:0.554:0.0	.	.	.	.	X	275;109	.	ENSP00000286067:R275X	R	+	1	2	C10orf12	98731960	0.041000	0.20044	0.163000	0.22734	0.291000	0.27294	1.688000	0.37690	1.585000	0.49928	-0.128000	0.14901	CGA		0.522	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		5	74	0	0	0	1	0	5	74				
ACE	1636	broad.mit.edu	37	17	61570881	61570881	+	Silent	SNP	C	C	T	rs146046369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61570881C>T	ENST00000290866.4	+	20	3021	c.2997C>T	c.(2995-2997)taC>taT	p.Y999Y	ACE_ENST00000428043.1_Silent_p.Y999Y|ACE_ENST00000290863.6_Silent_p.Y425Y|ACE_ENST00000413513.3_Silent_p.Y425Y|ACE_ENST00000577647.1_Silent_p.Y425Y|ACE_ENST00000421982.2_Silent_p.Y245Y|ACE_ENST00000490216.2_Silent_p.Y425Y	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	999	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCATGCAGTACAAAGACTTAC	0.572																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1273-1275)taC>taT		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	C	,,	0,4406		0,0,2203	88.0	82.0	84.0		2997,1275,1275	5.1	1.0	17	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ACE	NM_000789.3,NM_001178057.1,NM_152830.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	999/1307,425/692,425/733	61570881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61570881C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2997C>T	17.37:g.61570881C>T						ACE_ENST00000413513.3_Silent_p.Y425Y|ACE_ENST00000290863.6_Silent_p.Y425Y|ACE_ENST00000490216.2_Silent_p.Y425Y|ACE_ENST00000421982.2_Silent_p.Y245Y|ACE_ENST00000428043.1_Silent_p.Y999Y|ACE_ENST00000290866.4_Silent_p.Y999Y	p.Y425Y			P12821	ACE_HUMAN			9	1320	+			999			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.1275C>T	CCDS11637.1																																																																																				0.572	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	68	0	0	0	1	0	5	68				
ACIN1	22985	broad.mit.edu	37	14	23549097	23549097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549097C>A	ENST00000262710.1	-	6	1948	c.1621G>T	c.(1621-1623)Gga>Tga	p.G541*	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.G483*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.G501*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.G541*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	541					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGTGATTCCTTTGGCCAGT	0.483																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1621-1623)Gga>Tga		apoptotic chromatin condensation inducer 1							148.0	153.0	151.0					14																	23549097		2203	4300	6503	SO:0001587	stop_gained	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549097C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1621G>T	14.37:g.23549097C>A	ENSP00000262710:p.Gly541*					ACIN1_ENST00000605057.1_Nonsense_Mutation_p.G483*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.G501*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.G541*	p.G541*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1948	-	all_cancers(95;1.36e-05)		541					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	ENST00000262710.1	37	c.1621G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	41	8.724479	0.98929	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	.	.	.	5.42	4.54	0.55810	.	0.000000	0.41712	D	0.000833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-6.9035	9.9303	0.41519	0.0:0.909:0.0:0.091	.	.	.	.	X	541;501;541	.	ENSP00000262710:G541X	G	-	1	0	ACIN1	22618937	0.966000	0.33281	0.980000	0.43619	0.966000	0.64601	1.994000	0.40757	1.531000	0.49152	0.650000	0.86243	GGA		0.483	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	111	1	0	0.0293803	1	0.0301098	7	111				
CEP135	9662	broad.mit.edu	37	4	56858237	56858237	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56858237G>T	ENST00000257287.4	+	15	2119	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	665					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAACAGAGGTGAACTCAC	0.328																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(1993-1995)gaG>gaT		centrosomal protein 135kDa							52.0	58.0	56.0					4																	56858237		2203	4297	6500	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56858237G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1995G>T	4.37:g.56858237G>T	ENSP00000257287:p.Glu665Asp						p.E665D	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			15	2119	+	Glioma(25;0.08)|all_neural(26;0.101)		665					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1995G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470770	0.63625	.	.	ENSG00000174799	ENST00000257287	T	0.51071	0.72	5.18	4.32	0.51571	.	0.047583	0.85682	D	0.000000	T	0.48874	0.1524	M	0.77103	2.36	0.43010	D	0.99454	P	0.41102	0.738	B	0.40677	0.337	T	0.54662	-0.8260	10	0.49607	T	0.09	.	9.5473	0.39288	0.2132:0.0:0.7868:0.0	.	665	Q66GS9	CP135_HUMAN	D	665	ENSP00000257287:E665D	ENSP00000257287:E665D	E	+	3	2	CEP135	56552994	0.937000	0.31787	1.000000	0.80357	0.923000	0.55619	1.365000	0.34182	2.567000	0.86603	0.655000	0.94253	GAG		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		15	26	1	0	7.07596e-05	1	7.86387e-05	15	26				
PCDHA6	56142	broad.mit.edu	37	5	140209564	140209564	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209564G>A	ENST00000529310.1	+	1	2002	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	630	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGATCAGCAC	0.662																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1888-1890)Gag>Aag									70.0	77.0	74.0					5																	140209564		2203	4300	6503	SO:0001583	missense	0							g.chr5:140209564G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1888G>A	5.37:g.140209564G>A	ENSP00000433378:p.Glu630Lys					PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.E630K	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2002	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1888G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674667	0.47781	.	.	ENSG00000081842	ENST00000529310	T	0.53206	0.63	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.000000	0.37053	U	0.002270	T	0.73923	0.3649	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.969	T	0.81769	-0.0781	10	0.87932	D	0	.	16.6519	0.85218	0.0:0.0:1.0:0.0	.	630;630	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	K	630	ENSP00000433378:E630K	ENSP00000433378:E630K	E	+	1	0	PCDHA6	140189748	0.998000	0.40836	1.000000	0.80357	0.117000	0.20001	2.857000	0.48349	2.216000	0.71823	0.306000	0.20318	GAG		0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		7	65	0	0	0	1	0	7	65				
ADAM19	8728	broad.mit.edu	37	5	156917318	156917318	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156917318C>A	ENST00000517905.1	-	19	2284	c.2240G>T	c.(2239-2241)aGt>aTt	p.S747I	ADAM19_ENST00000430702.2_Splice_Site_p.S480I|ADAM19_ENST00000257527.4_Splice_Site_p.S747I|ADAM19_ENST00000394020.1_Splice_Site_p.S749I			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	747					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGTCATACCTGAACTGTTG	0.478																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.e19+1		ADAM metallopeptidase domain 19							157.0	137.0	144.0					5																	156917318		2203	4300	6503	SO:0001630	splice_region_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156917318C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2240+1G>T	5.37:g.156917318C>A						ADAM19_ENST00000430702.2_Splice_Site_p.S480_splice|ADAM19_ENST00000517905.1_Splice_Site_p.S747_splice|ADAM19_ENST00000394020.1_Splice_Site_p.S749_splice	p.S747_splice	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		19	2318	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	747					Q9BZL5|Q9UHP2	Splice_Site	SNP	ENST00000517905.1	37	c.2240_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.03|16.03	3.007533|3.007533	0.54361|0.54361	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|.	0.01838|.	4.61;4.73;4.76;4.72|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.163860|.	0.43747|.	D|.	0.000540|.	T|T	0.61590|0.61590	0.2359|0.2359	L|L	0.43152|0.43152	1.355|1.355	0.37432|0.37432	D|D	0.914081|0.914081	P;P;D|.	0.54397|.	0.617;0.483;0.966|.	B;B;P|.	0.52109|.	0.173;0.084;0.69|.	T|T	0.62854|0.62854	-0.6766|-0.6766	9|5	.|.	.|.	.|.	.|.	16.1318|16.1318	0.81446|0.81446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	747;747;480|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	I|F	480;747;749;747|318	ENSP00000414088:S480I;ENSP00000257527:S747I;ENSP00000377588:S749I;ENSP00000428654:S747I|.	.|.	S|V	-|-	2|1	0|0	ADAM19|ADAM19	156849896|156849896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.168000|0.168000	0.22595|0.22595	4.000000|4.000000	0.57039|0.57039	2.539000|2.539000	0.85634|0.85634	0.655000|0.655000	0.94253|0.94253	AGT|GTT		0.478	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	Missense_Mutation	4	62	1	0	0.014758	1	0.0152625	4	62				
MUC4	4585	broad.mit.edu	37	3	195480103	195480103	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195480103T>C	ENST00000346145.4	-	19	2660		c.e19-2		MUC4_ENST00000463781.3_Splice_Site|MUC4_ENST00000475231.1_Splice_Site|MUC4_ENST00000349607.4_Splice_Site	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCCCAGAGCTGCAGAGTGAG	0.612																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e20-2		mucin 4, cell surface associated							82.0	83.0	83.0					3																	195480103		2203	4300	6503	SO:0001630	splice_region_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195480103T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2621-2A>G	3.37:g.195480103T>C						MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site|MUC4_ENST00000346145.4_Splice_Site		NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	20	15788	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)						O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Splice_Site	SNP	ENST00000346145.4	37		CCDS3310.1	.	.	.	.	.	.	.	.	.	.	t	12.02	1.813058	0.32053	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8502	0.57852	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC4	196965774	0.977000	0.34250	0.993000	0.49108	0.294000	0.27393	3.806000	0.55583	2.122000	0.65172	0.444000	0.29173	.		0.612	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	Intron	25	59	0	0	0	1	0	25	59				
INO80	54617	broad.mit.edu	37	15	41372072	41372072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41372072G>A	ENST00000361937.3	-	9	1382	c.958C>T	c.(958-960)Cga>Tga	p.R320*	INO80_ENST00000401393.3_Nonsense_Mutation_p.R320*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	320	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAGGCAGCTCGACGCACCTCC	0.517																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(958-960)Cga>Tga		INO80 complex subunit							106.0	108.0	107.0					15																	41372072		2203	4300	6503	SO:0001587	stop_gained	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41372072G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.958C>T	15.37:g.41372072G>A	ENSP00000355205:p.Arg320*					INO80_ENST00000401393.3_Nonsense_Mutation_p.R320*	p.R320*			Q9ULG1	INO80_HUMAN			9	1382	-			320			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	c.958C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437641	0.83885	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	4.91	2.96	0.34315	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5039	0.55970	0.0:0.0:0.5653:0.4347	.	.	.	.	X	320	.	ENSP00000355205:R320X	R	-	1	2	INO80	39159364	1.000000	0.71417	0.973000	0.42090	0.082000	0.17680	5.970000	0.70431	0.631000	0.30412	-0.518000	0.04402	CGA		0.517	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		63	74	0	0	0	1	0	63	74				
PLCXD3	345557	broad.mit.edu	37	5	41381941	41381941	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41381941T>G	ENST00000377801.3	-	2	873	c.799A>C	c.(799-801)Aca>Cca	p.T267P	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T267P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	267					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGATTGTTTCTCTGAGG	0.408																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(799-801)Aca>Cca		phosphatidylinositol-specific phospholipase C, X domain containing 3							72.0	76.0	74.0					5																	41381941		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41381941T>G		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.799A>C	5.37:g.41381941T>G	ENSP00000367032:p.Thr267Pro					PLCXD3_ENST00000328457.3_Missense_Mutation_p.T267P	p.T267P			Q63HM9	PLCX3_HUMAN			2	873	-			267					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.799A>C	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830391	0.71258	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.66297	2.02	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.73329	-0.4017	9	0.27082	T	0.32	-11.9442	16.6407	0.85098	0.0:0.0:0.0:1.0	.	267	Q63HM9	PLCX3_HUMAN	P	267	.	ENSP00000333751:T267P	T	-	1	0	PLCXD3	41417698	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.876000	0.69667	2.326000	0.78906	0.533000	0.62120	ACA		0.408	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		24	41	0	0	0	1	0	24	41				
NADSYN1	55191	broad.mit.edu	37	11	71209551	71209551	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71209551C>T	ENST00000319023.2	+	20	2235	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	NADSYN1_ENST00000530055.1_Nonsense_Mutation_p.Q312*|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.Q423*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	683	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTGGCCTTGGCAGTTTCGGTG	0.473																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(2047-2049)Cag>Tag		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						145.0	127.0	133.0					11																	71209551		2200	4294	6494	SO:0001587	stop_gained	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71209551C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.2047C>T	11.37:g.71209551C>T	ENSP00000326424:p.Gln683*					NADSYN1_ENST00000530055.1_Nonsense_Mutation_p.Q312*|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.Q423*	p.Q683*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			20	2235	+			683			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonsense_Mutation	SNP	ENST00000319023.2	37	c.2047C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	c	19.33	3.806987	0.70797	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	.	.	.	5.06	5.06	0.68205	.	0.138661	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-32.0908	15.92	0.79556	0.0:1.0:0.0:0.0	.	.	.	.	X	683;423;312	.	ENSP00000326424:Q683X	Q	+	1	0	NADSYN1	70887199	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	6.621000	0.74228	2.353000	0.79882	0.585000	0.79938	CAG		0.473	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		6	67	0	0	0	1	0	6	67				
CRABP2	1382	broad.mit.edu	37	1	156670687	156670687	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156670687A>C	ENST00000368222.3	-	2	382	c.228T>G	c.(226-228)acT>acG	p.T76T	CRABP2_ENST00000368221.1_Silent_p.T76T	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	76					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	TCCCATCCACAGTCTGCTCCT	0.537																																						ENST00000368222.3																			0				endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6						c.(226-228)acT>acG		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)						127.0	110.0	116.0					1																	156670687		2203	4300	6503	SO:0001819	synonymous_variant	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670687A>C	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.228T>G	1.37:g.156670687A>C						CRABP2_ENST00000368221.1_Silent_p.T76T	p.T76T	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN			2	382	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		76					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Silent	SNP	ENST00000368222.3	37	c.228T>G	CCDS1152.1																																																																																				0.537	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878		18	46	0	0	0	1	0	18	46				
PREX1	57580	broad.mit.edu	37	20	47242464	47242464	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242464G>T	ENST00000371941.3	-	40	4961	c.4939C>A	c.(4939-4941)Ctc>Atc	p.L1647I	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1647					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCGGTAGAGGCTGGGGATG	0.582																																						ENST00000371941.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.e40-1		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							16.0	17.0	17.0					20																	47242464		2193	4286	6479	SO:0001630	splice_region_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47242464G>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4938-1C>A	20.37:g.47242464G>T						PREX1_ENST00000396220.1_3'UTR	p.L1647_splice	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		40	4961	-			1647					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Splice_Site	SNP	ENST00000371941.3	37	c.4937_splice	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834105	0.32421	.	.	ENSG00000124126	ENST00000371941	T	0.70749	-0.51	4.09	3.04	0.35103	.	0.302275	0.22600	U	0.057976	T	0.52108	0.1714	N	0.20685	0.6	0.80722	D	1	B;B	0.15473	0.006;0.013	B;B	0.18263	0.021;0.021	T	0.51356	-0.8716	10	0.42905	T	0.14	.	8.0351	0.30488	0.0:0.0:0.5647:0.4353	.	1647;944	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	I	1647	ENSP00000361009:L1647I	ENSP00000361009:L1647I	L	-	1	0	PREX1	46675871	1.000000	0.71417	0.971000	0.41717	0.811000	0.45836	2.121000	0.41977	1.837000	0.53436	0.385000	0.25706	CTC		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	Missense_Mutation	4	5	1	0	0.217242	1	0.218821	4	5				
CNDP2	55748	broad.mit.edu	37	18	72180853	72180853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72180853G>A	ENST00000324262.4	+	8	1118	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	CNDP2_ENST00000324301.8_Missense_Mutation_p.A184T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A268T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	268					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGCCGTGGCCGCCGTCACGGA	0.597																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(802-804)Gcc>Acc		CNDP dipeptidase 2 (metallopeptidase M20 family)							85.0	70.0	75.0					18																	72180853		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72180853G>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.802G>A	18.37:g.72180853G>A	ENSP00000325548:p.Ala268Thr					CNDP2_ENST00000579847.1_Missense_Mutation_p.A268T|CNDP2_ENST00000324301.8_Missense_Mutation_p.A184T	p.A268T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	8	1118	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	268					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.802G>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	9.405	1.079060	0.20227	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T	0.18174	2.23	5.74	2.06	0.26882	Peptidase M20, dimerisation (1);	0.328130	0.36815	N	0.002400	T	0.08714	0.0216	N	0.16656	0.425	0.09310	N	1	B;B	0.19073	0.016;0.033	B;B	0.17098	0.006;0.017	T	0.25398	-1.0133	10	0.62326	D	0.03	7.1161	3.206	0.06666	0.2054:0.4354:0.2324:0.1268	.	184;268	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	T	268;184	ENSP00000325548:A268T	ENSP00000325548:A268T	A	+	1	0	CNDP2	70331833	0.020000	0.18652	0.002000	0.10522	0.009000	0.06853	0.831000	0.27476	0.099000	0.17552	-0.734000	0.03567	GCC		0.597	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		20	23	0	0	0	1	0	20	23				
SULF2	55959	broad.mit.edu	37	20	46292287	46292287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46292287G>A	ENST00000359930.4	-	16	2988	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	SULF2_ENST00000484875.1_Missense_Mutation_p.R713C|SULF2_ENST00000361612.4_Missense_Mutation_p.R713C|SULF2_ENST00000467815.1_Missense_Mutation_p.R713C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	713					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTCTGCAGGCGCTTGAGCAGC	0.607											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2137-2139)Cgc>Tgc		sulfatase 2							133.0	122.0	126.0					20																	46292287		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46292287G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2137C>T	20.37:g.46292287G>A	ENSP00000353007:p.Arg713Cys		OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_ENST00000484875.1_Missense_Mutation_p.R713C|SULF2_ENST00000361612.4_Missense_Mutation_p.R713C|SULF2_ENST00000467815.1_Missense_Mutation_p.R713C	p.R713C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			16	2988	-			713					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2137C>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519511	0.85495	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.84	4.83	0.62350	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.82056	2.57	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.53669	-0.8406	10	0.87932	D	0	-20.7133	11.5227	0.50560	0.0:0.0:0.6136:0.3864	.	713;713	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	C	713;713;713;132;713	ENSP00000353007:R713C;ENSP00000418290:R713C;ENSP00000354662:R713C;ENSP00000418442:R713C	ENSP00000353007:R713C	R	-	1	0	SULF2	45725694	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	3.637000	0.54324	2.768000	0.95171	0.561000	0.74099	CGC		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		47	66	0	0	0	1	0	47	66				
RGS10	6001	broad.mit.edu	37	10	121259697	121259697	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121259697G>A	ENST00000369101.3	-	4	477	c.450C>T	c.(448-450)acC>acT	p.T150T	RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000392865.1_Silent_p.T144T|RGS10_ENST00000369103.2_Silent_p.T158T			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	150					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CCTCTTCCTCGGTTCGCTTGT	0.423																																						ENST00000392865.1																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(430-432)acC>acT		regulator of G-protein signaling 10							114.0	112.0	113.0					10																	121259697		2203	4300	6503	SO:0001819	synonymous_variant	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121259697G>A	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.450C>T	10.37:g.121259697G>A						RGS10_ENST00000369103.2_Silent_p.T158T|RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000369101.3_Silent_p.T150T	p.T144T	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	5	494	-		Lung NSC(174;0.094)|all_lung(145;0.123)	150			RGS.		A8K408|B1AMR8|Q6IAZ6|Q96GN0	Silent	SNP	ENST00000369101.3	37	c.432C>T																																																																																					0.423	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		40	53	0	0	0	1	0	40	53				
LZTFL1	54585	broad.mit.edu	37	3	45870074	45870074	+	Nonsense_Mutation	SNP	C	C	A	rs146835760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45870074C>A	ENST00000296135.6	-	8	808	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	LZTFL1_ENST00000536047.1_Nonsense_Mutation_p.E195*|LZTFL1_ENST00000490463.1_5'Flank|LZTFL1_ENST00000539217.1_Nonsense_Mutation_p.E208*	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	212	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACAGTGTTTTCTAAGTTACTT	0.358																																						ENST00000296135.6																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(634-636)Gaa>Taa		leucine zipper transcription factor-like 1							80.0	79.0	79.0					3																	45870074		2203	4300	6503	SO:0001587	stop_gained	54585							g.chr3:45870074C>A	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.634G>T	3.37:g.45870074C>A	ENSP00000296135:p.Glu212*					LZTFL1_ENST00000536047.1_Nonsense_Mutation_p.E195*|LZTFL1_ENST00000539217.1_Nonsense_Mutation_p.E208*	p.E212*	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	8	808	-			212					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Nonsense_Mutation	SNP	ENST00000296135.6	37	c.634G>T	CCDS2731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	12.047512|12.047512	0.99630|0.99630	.|.	.|.	ENSG00000163818|ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000539217|ENST00000440576	.|.	.|.	.|.	5.78|5.78	4.9|4.9	0.64082|0.64082	.|.	0.045081|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72969	.|0.3527	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74642	.|-0.3597	.|3	0.45353|.	T|.	0.12|.	-15.759|-15.759	16.8297|16.8297	0.85941|0.85941	0.0:0.8714:0.1286:0.0|0.0:0.8714:0.1286:0.0	.|.	.|.	.|.	.|.	X|I	212;195;208|147	.|.	ENSP00000296135:E212X|.	E|R	-|-	1|2	0|0	LZTFL1|LZTFL1	45845078|45845078	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	5.260000|5.260000	0.65490|0.65490	1.423000|1.423000	0.47198|0.47198	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.358	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		30	56	1	0	1.7881e-09	1	2.17656e-09	30	56				
PIP5K1A	8394	broad.mit.edu	37	1	151196880	151196880	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151196880T>C	ENST00000368888.4	+	3	576	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	PIP5K1A_ENST00000409426.1_Intron|PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000368890.4_Intron	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	52					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTACATCTCATTGGTAGGCTA	0.289																																					Pancreas(80;36 1443 2325 16095 21302)	ENST00000368888.4																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(154-156)Ttg>Ctg		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							209.0	197.0	200.0					1																	151196880		1568	3582	5150	SO:0001819	synonymous_variant	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151196880T>C	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.154T>C	1.37:g.151196880T>C						PIP5K1A_ENST00000409426.1_Intron|PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000368890.4_Intron	p.L52L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	576	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		52					A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	c.154T>C	CCDS44219.1																																																																																				0.289	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		22	168	0	0	0	1	0	22	168				
SMOX	54498	broad.mit.edu	37	20	4163079	4163079	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4163079A>G	ENST00000305958.4	+	5	1178	c.953A>G	c.(952-954)gAg>gGg	p.E318G	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.E318G|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	318					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGAGTGCGAGGACTGTGAG	0.632																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(952-954)gAg>gGg		spermine oxidase	Spermine(DB00127)						86.0	76.0	79.0					20																	4163079		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163079A>G	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.953A>G	20.37:g.4163079A>G	ENSP00000307252:p.Glu318Gly					SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.E318G	p.E318G	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1178	+			318					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.953A>G	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072137	0.76415	.	.	ENSG00000088826	ENST00000305958;ENST00000379460;ENST00000457205	D;D;D	0.93307	-3.2;-3.2;-3.2	5.79	4.68	0.58851	Amine oxidase (1);	0.096968	0.64402	D	0.000001	D	0.95990	0.8694	M	0.80422	2.495	0.54753	D	0.999986	D;D	0.71674	0.983;0.998	P;D	0.71870	0.85;0.975	D	0.95224	0.8336	9	.	.	.	-19.4365	10.5049	0.44828	0.8546:0.0:0.0:0.1454	.	318;318	Q9NWM0-6;Q9NWM0	.;SMOX_HUMAN	G	318;318;175	ENSP00000307252:E318G;ENSP00000368773:E318G;ENSP00000407269:E175G	.	E	+	2	0	SMOX	4111079	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.334000	0.96470	1.006000	0.39211	0.456000	0.33151	GAG		0.632	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		7	35	0	0	0	1	0	7	35				
PARD6A	50855	broad.mit.edu	37	16	67696030	67696030	+	Missense_Mutation	SNP	G	G	A	rs200163503		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67696030G>A	ENST00000219255.3	+	3	601	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PARD6A_ENST00000602551.1_Missense_Mutation_p.R144Q|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Missense_Mutation_p.R173Q|ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	174	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCTACATCCGAGATGGCATG	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17335	0.0		0.0	False		,,,				2504	0.0					ENST00000458121.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(517-519)cGa>cAa		par-6 family cell polarity regulator alpha		G	GLN/ARG,GLN/ARG	0,4396		0,0,2198	69.0	73.0	72.0		518,521	4.4	1.0	16		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PARD6A	NM_001037281.1,NM_016948.2	43,43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	173/346,174/347	67696030	1,12995	2198	4300	6498	SO:0001583	missense	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67696030G>A		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.521G>A	16.37:g.67696030G>A	ENSP00000219255:p.Arg174Gln					PARD6A_ENST00000219255.3_Missense_Mutation_p.R174Q|PARD6A_ENST00000602551.1_Missense_Mutation_p.R144Q	p.R173Q	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	609	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	174			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	c.518G>A	CCDS10843.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	26.0	4.695243	0.88830	0.0	1.16E-4	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.25579	1.79;1.79	5.39	4.42	0.53409	PDZ/DHR/GLGF (4);	0.136270	0.49916	D	0.000130	T	0.50718	0.1632	M	0.73753	2.245	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.54323	-0.8311	10	0.56958	D	0.05	-4.999	14.2539	0.66038	0.0:0.0:0.8496:0.1504	.	174;173	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	Q	173;174	ENSP00000392388:R173Q;ENSP00000219255:R174Q	ENSP00000219255:R174Q	R	+	2	0	PARD6A	66253531	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	1.215000	0.43411	0.563000	0.77884	CGA		0.627	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		28	52	0	0	0	1	0	28	52				
TAF1B	9014	broad.mit.edu	37	2	10045094	10045094	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10045094A>G	ENST00000263663.5	+	9	1102	c.914A>G	c.(913-915)aAc>aGc	p.N305S	TAF1B_ENST00000396242.3_Missense_Mutation_p.N50S	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	305	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCATCCCAACATACTGTGT	0.383																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(913-915)aAc>aGc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							127.0	113.0	118.0					2																	10045094		2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10045094A>G	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.914A>G	2.37:g.10045094A>G	ENSP00000263663:p.Asn305Ser					TAF1B_ENST00000396242.3_Missense_Mutation_p.N50S	p.N305S	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			9	1102	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		305					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.914A>G	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450688	0.26074	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.06371	3.31;3.31	5.67	4.52	0.55395	.	0.558118	0.21714	N	0.070234	T	0.05640	0.0148	L	0.46741	1.465	0.26118	N	0.980593	P;B	0.42692	0.787;0.037	B;B	0.33121	0.158;0.033	T	0.33343	-0.9872	9	.	.	.	-12.7083	8.6096	0.33795	0.8529:0.0:0.1471:0.0	.	305;305	Q53T94;Q53T94-2	TAF1B_HUMAN;.	S	305;50	ENSP00000263663:N305S;ENSP00000379542:N50S	.	N	+	2	0	TAF1B	9962545	0.996000	0.38824	0.991000	0.47740	0.895000	0.52256	3.311000	0.51919	0.985000	0.38656	0.383000	0.25322	AAC		0.383	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		34	55	0	0	0	1	0	34	55				
TMEM132A	54972	broad.mit.edu	37	11	60701095	60701095	+	Missense_Mutation	SNP	C	C	T	rs151003082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60701095C>T	ENST00000453848.2	+	8	1596	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R481C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	480						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R481C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCTGGTGGCGCCGGCTCCG	0.711																																						ENST00000005286.4																			2	Substitution - Missense(2)	p.R481C(2)	large_intestine(2)	breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1441-1443)Cgc>Tgc		transmembrane protein 132A		C	CYS/ARG,CYS/ARG	1,4389		0,1,2194	17.0	22.0	20.0		1441,1438	4.7	1.0	11	dbSNP_134	20	0,8590		0,0,4295	no	missense,missense	TMEM132A	NM_017870.3,NM_178031.2	180,180	0,1,6489	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	481/1025,480/1024	60701095	1,12979	2195	4295	6490	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60701095C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1438C>T	11.37:g.60701095C>T	ENSP00000405823:p.Arg480Cys					TMEM132A_ENST00000453848.2_Missense_Mutation_p.R480C	p.R481C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			8	1594	+			480					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1441C>T	CCDS44618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.231027|4.231027	0.79688|0.79688	2.28E-4|2.28E-4	0.0|0.0	ENSG00000006118|ENSG00000006118	ENST00000536409|ENST00000444690;ENST00000453848;ENST00000005286	.|T;T	.|0.14022	.|2.54;2.54	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.197247	.|0.36134	.|N	.|0.002780	T|T	0.30417|0.30417	0.0764|0.0764	L|L	0.50333|0.50333	1.59|1.59	0.49213|0.49213	D|D	0.999761|0.999761	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74674	.|0.978;0.978;0.984	T|T	0.01537|0.01537	-1.1330|-1.1330	5|10	.|0.87932	.|D	.|0	.|.	13.4949|13.4949	0.61419|0.61419	0.0:0.843:0.157:0.0|0.0:0.843:0.157:0.0	.|.	.|231;480;481	.|Q24JP5-4;Q24JP5;Q24JP5-2	.|.;T132A_HUMAN;.	V|C	71|231;480;481	.|ENSP00000405823:R480C;ENSP00000005286:R481C	.|ENSP00000005286:R481C	A|R	+|+	2|1	0|0	TMEM132A|TMEM132A	60457671|60457671	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.971000|0.971000	0.29396|0.29396	2.343000|2.343000	0.79666|0.79666	0.555000|0.555000	0.69702|0.69702	GCG|CGC		0.711	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		12	14	0	0	0	1	0	12	14				
FAM193B	54540	broad.mit.edu	37	5	176965998	176965998	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176965998G>A	ENST00000514747.1	-	2	409	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Missense_Mutation_p.L8F|FAM193B_ENST00000508298.1_Intron	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	121						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TCGCCTAGGAGATTCTTGACG	0.552																																						ENST00000443375.2																			0				kidney(1)|large_intestine(3)	4						c.(22-24)Ctc>Ttc		family with sequence similarity 193, member B							99.0	102.0	101.0					5																	176965998		2048	4203	6251	SO:0001583	missense	54540							g.chr5:176965998G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.361C>T	5.37:g.176965998G>A	ENSP00000422131:p.Leu121Phe					FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Missense_Mutation_p.L121F	p.L8F			Q6IPW0	Q6IPW0_HUMAN			3	1580	-			0					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.22C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882993	0.91740	.	.	ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000502403;ENST00000510429;ENST00000506432	T;T	0.58210	0.5;0.35	5.45	5.45	0.79879	.	.	.	.	.	T	0.69682	0.3138	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71024	-0.4712	9	0.87932	D	0	-7.0578	19.6555	0.95837	0.0:0.0:1.0:0.0	.	8	E9PEZ8	.	F	121;8;8;8;8	ENSP00000422131:L121F;ENSP00000410098:L8F	ENSP00000410098:L8F	L	-	1	0	FAM193B	176898604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.066000	0.89486	2.725000	0.93324	0.655000	0.94253	CTC		0.552	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		20	42	0	0	0	1	0	20	42				
OBSCN	84033	broad.mit.edu	37	1	228506846	228506846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228506846C>T	ENST00000422127.1	+	54	14437	c.14393C>T	c.(14392-14394)gCt>gTt	p.A4798V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4798V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1917V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5755V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2432V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4798					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGAGATGCTGACCTCTCA	0.647																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17263-17265)gCt>gTt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							37.0	43.0	41.0					1																	228506846		2165	4259	6424	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228506846C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14393C>T	1.37:g.228506846C>T	ENSP00000409493:p.Ala4798Val					OBSCN_ENST00000366707.4_Missense_Mutation_p.A2432V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1917V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4798V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4798V	p.A5755V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			65	17338	+		Prostate(94;0.0405)	4798			DH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17264C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057058	0.93846	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66995	0.15;-0.24;-0.19;0.3	4.03	4.03	0.46877	.	0.085770	0.48286	D	0.000194	T	0.64907	0.2641	N	0.19112	0.55	0.49213	D	0.999766	D;D	0.76494	0.999;0.999	D;D	0.69479	0.922;0.964	T	0.59500	-0.7443	10	0.02654	T	1	.	16.3454	0.83126	0.0:1.0:0.0:0.0	.	4798;4798	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	4798;4798;2432;1917	ENSP00000284548:A4798V;ENSP00000409493:A4798V;ENSP00000355668:A2432V;ENSP00000355670:A1917V	ENSP00000284548:A4798V	A	+	2	0	OBSCN	226573469	1.000000	0.71417	0.974000	0.42286	0.727000	0.41649	4.968000	0.63728	2.085000	0.62840	0.313000	0.20887	GCT		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	15	0	0	0	1	0	11	15				
IL31RA	133396	broad.mit.edu	37	5	55212718	55212718	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55212718C>A	ENST00000447346.2	+	15	2130	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.L547I	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	657					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGAGGAGCTCCCAGTTTC	0.527																																						ENST00000447346.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(2065-2067)Ctc>Atc		interleukin 31 receptor A							52.0	58.0	56.0					5																	55212718		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55212718C>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2065C>A	5.37:g.55212718C>A	ENSP00000415900:p.Leu689Ile					IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.L547I	p.L689I	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN			15	2130	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	657					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.2065C>A	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	8.191	0.795914	0.16327	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.45668	1.08;0.89	4.47	-4.33	0.03677	.	6.239960	0.00166	N	0.000009	T	0.30479	0.0766	L	0.36672	1.1	0.09310	N	1	B	0.22003	0.063	B	0.19391	0.025	T	0.09100	-1.0690	9	.	.	.	-2.1687	6.0542	0.19802	0.0:0.2679:0.3947:0.3374	.	689	Q8NI17-2	.	I	689;547	ENSP00000415900:L689I;ENSP00000427533:L547I	.	L	+	1	0	IL31RA	55248475	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.857000	0.04286	-1.108000	0.03000	-0.471000	0.05019	CTC		0.527	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		6	64	1	0	8.12818e-05	1	8.99451e-05	6	64				
S1PR3	1903	broad.mit.edu	37	9	91616912	91616912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91616912A>G	ENST00000375846.3	+	1	5492	c.797A>G	c.(796-798)gAt>gGt	p.D266G	S1PR3_ENST00000358157.2_Missense_Mutation_p.D266G			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	266					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TTCCTCATTGATGTGGCCTGC	0.587																																						ENST00000375846.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						c.(796-798)gAt>gGt		sphingosine-1-phosphate receptor 3							140.0	83.0	102.0					9																	91616912		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616912A>G	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.797A>G	9.37:g.91616912A>G	ENSP00000365006:p.Asp266Gly					S1PR3_ENST00000358157.2_Missense_Mutation_p.D266G	p.D266G			Q99500	S1PR3_HUMAN			1	5492	+			266					Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.797A>G	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106282	0.77096	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.72505	-0.66;-0.66	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84206	0.5421	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86015	0.1503	10	0.56958	D	0.05	.	15.1169	0.72410	1.0:0.0:0.0:0.0	.	266	Q99500	S1PR3_HUMAN	G	266	ENSP00000350878:D266G;ENSP00000365006:D266G	ENSP00000350878:D266G	D	+	2	0	S1PR3	90806732	1.000000	0.71417	0.282000	0.24776	0.902000	0.53008	8.919000	0.92770	2.217000	0.71921	0.379000	0.24179	GAT		0.587	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		7	39	0	0	0	1	0	7	39				
CACNA2D4	93589	broad.mit.edu	37	12	1909168	1909168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1909168T>C	ENST00000382722.5	-	33	3334	c.2972A>G	c.(2971-2973)gAg>gGg	p.E991G	CACNA2D4_ENST00000538027.2_Missense_Mutation_p.E136G|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E927G|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E991G|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E966G|CACNA2D4_ENST00000538450.1_Missense_Mutation_p.E121G|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E927G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	991					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCACTCACCCTCGGCCCCTCT	0.602																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2971-2973)gAg>gGg		calcium channel, voltage-dependent, alpha 2/delta subunit 4							41.0	49.0	46.0					12																	1909168		2149	4267	6416	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1909168T>C	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2972A>G	12.37:g.1909168T>C	ENSP00000372169:p.Glu991Gly					CACNA2D4_ENST00000538450.1_Missense_Mutation_p.E121G|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.E136G|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E966G|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E927G|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E991G|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E927G	p.E991G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	33	3334	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	991					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.2972A>G	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	T	9.515	1.106753	0.20714	.	.	ENSG00000151062	ENST00000456077;ENST00000537784;ENST00000545595;ENST00000382722;ENST00000538027;ENST00000538450	T;T	0.58060	0.36;0.36	4.21	1.8	0.24995	.	0.488601	0.19686	N	0.108387	T	0.47967	0.1474	L	0.60455	1.87	0.46149	D	0.998895	P;P;B	0.39940	0.696;0.469;0.409	P;B;B	0.44673	0.457;0.118;0.096	T	0.47535	-0.9110	10	0.66056	D	0.02	.	2.9954	0.05996	0.0:0.1711:0.2472:0.5817	.	121;991;927	B4DVU4;Q7Z3S7;Q7Z3S7-4	.;CA2D4_HUMAN;.	G	927;58;58;991;58;121	ENSP00000372169:E991G;ENSP00000446341:E121G	ENSP00000372169:E991G	E	-	2	0	CACNA2D4	1779429	0.994000	0.37717	0.976000	0.42696	0.158000	0.22134	3.219000	0.51200	0.724000	0.32296	0.459000	0.35465	GAG		0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			5	6	0	0	0	1	0	5	6				
ZNF804A	91752	broad.mit.edu	37	2	185802362	185802362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:185802362C>T	ENST00000302277.6	+	4	2833	c.2239C>T	c.(2239-2241)Cac>Tac	p.H747Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	747			H -> R (in dbSNP:rs12477430). {ECO:0000269|PubMed:15489334}.				metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGATATGAAACACATGAGTCA	0.328																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2239-2241)Cac>Tac		zinc finger protein 804A							51.0	50.0	50.0					2																	185802362		2203	4298	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802362C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2239C>T	2.37:g.185802362C>T	ENSP00000303252:p.His747Tyr						p.H747Y	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2833	+			747		H -> R (in dbSNP:rs12477430).			A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2239C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	1.261	-0.615691	0.03663	.	.	ENSG00000170396	ENST00000302277	T	0.05319	3.46	5.7	-3.12	0.05282	.	1.002720	0.08034	N	0.993933	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44128	-0.9348	10	0.02654	T	1	4.3148	3.4784	0.07593	0.0967:0.1884:0.4132:0.3018	.	747	Q7Z570	Z804A_HUMAN	Y	747	ENSP00000303252:H747Y	ENSP00000303252:H747Y	H	+	1	0	ZNF804A	185510607	0.003000	0.15002	0.000000	0.03702	0.050000	0.14768	-0.107000	0.10873	-0.847000	0.04168	-0.294000	0.09567	CAC		0.328	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		19	40	0	0	0	1	0	19	40				
INO80	54617	broad.mit.edu	37	15	41347563	41347563	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41347563C>A	ENST00000361937.3	-	18	2495		c.e18-1		INO80_ENST00000401393.3_Splice_Site			Q9ULG1	INO80_HUMAN	INO80 complex subunit						ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGCCCAAAGCTGTAAACAAA	0.353																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.e18-1		INO80 complex subunit							65.0	61.0	62.0					15																	41347563		2203	4300	6503	SO:0001630	splice_region_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41347563C>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2071-1G>T	15.37:g.41347563C>A						INO80_ENST00000401393.3_Splice_Site				Q9ULG1	INO80_HUMAN			18	2495	-								A6H8X4|Q9NTG6	Splice_Site	SNP	ENST00000361937.3	37		CCDS10071.1	.	.	.	.	.	.	.	.	.	.	c	19.18	3.777493	0.70107	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5275	0.87804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INO80	39134855	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.805000	0.86005	2.141000	0.66446	0.455000	0.32223	.		0.353	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	Intron	7	30	1	0	0.000157383	1	0.00017284	7	30				
PEG3	5178	broad.mit.edu	37	19	57333113	57333113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57333113G>A	ENST00000326441.9	-	7	938	c.575C>T	c.(574-576)cCg>cTg	p.P192L	PEG3_ENST00000598410.1_Missense_Mutation_p.P67L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P67L|ZIM2_ENST00000221722.5_Missense_Mutation_p.P67L|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000423103.2_Missense_Mutation_p.P192L|ZIM2_ENST00000593711.1_Missense_Mutation_p.P67L|PEG3_ENST00000593695.1_Missense_Mutation_p.P66L|ZIM2_ENST00000391708.3_Missense_Mutation_p.P67L|ZIM2_ENST00000599935.1_Missense_Mutation_p.P67L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	192					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGATCCCGCGGAGGCATCCC	0.552																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(574-576)cCg>cTg		paternally expressed 3							120.0	110.0	114.0					19																	57333113		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57333113G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.575C>T	19.37:g.57333113G>A	ENSP00000326581:p.Pro192Leu					ZIM2_ENST00000593711.1_Missense_Mutation_p.P67L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P67L|PEG3_ENST00000423103.2_Missense_Mutation_p.P192L|ZIM2_ENST00000599935.1_Missense_Mutation_p.P67L|PEG3_ENST00000598410.1_Missense_Mutation_p.P67L|ZIM2_ENST00000391708.3_Missense_Mutation_p.P67L|PEG3_ENST00000593695.1_Missense_Mutation_p.P66L|ZIM2_ENST00000221722.5_Missense_Mutation_p.P67L	p.P192L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	938	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	192					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.575C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142350	0.57044	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04603	3.59;3.59;4.1;4.1	3.57	0.129	0.14739	.	0.471001	0.16177	N	0.226024	T	0.02083	0.0065	N	0.08118	0	.	.	.	B;B;B;B	0.31519	0.178;0.024;0.327;0.082	B;B;B;B	0.16722	0.007;0.002;0.016;0.008	T	0.39563	-0.9608	9	0.46703	T	0.11	-5.9735	6.0877	0.19976	0.0:0.1048:0.534:0.3612	.	67;192;126;67	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	L	67;67;192;192;192	ENSP00000375589:P67L;ENSP00000221722:P67L;ENSP00000326581:P192L;ENSP00000403051:P192L	ENSP00000221722:P67L	P	-	2	0	ZIM2	62024925	0.030000	0.19436	0.037000	0.18230	0.835000	0.47333	-0.201000	0.09464	-0.330000	0.08514	-1.221000	0.01599	CCG		0.552	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			58	67	0	0	0	1	0	58	67				
SPPL2C	162540	broad.mit.edu	37	17	43922633	43922633	+	Missense_Mutation	SNP	G	G	A	rs201824406		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43922633G>A	ENST00000329196.5	+	1	378	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	121	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTGCTCATCGTGAGCCGGGT	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17116	0.0		0.0	False		,,,				2504	0.0					ENST00000329196.5																			0											c.(361-363)Gtg>Atg		signal peptide peptidase like 2C							49.0	50.0	50.0					17																	43922633		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922633G>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.361G>A	17.37:g.43922633G>A	ENSP00000332488:p.Val121Met					MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.V121M	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	378	+			121					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.361G>A	CCDS32673.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.23	2.771221	0.49680	.	.	ENSG00000185294	ENST00000329196	T	0.08370	3.1	4.8	4.8	0.61643	Protease-associated domain, PA (1);	0.000000	0.39834	N	0.001260	T	0.27866	0.0686	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00662	-1.1621	10	0.59425	D	0.04	-7.2171	13.2146	0.59851	0.0:0.0:1.0:0.0	.	121	Q8IUH8	IMP5_HUMAN	M	121	ENSP00000332488:V121M	ENSP00000332488:V121M	V	+	1	0	AC217771.1	41278413	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.119000	0.57891	2.481000	0.83766	0.650000	0.86243	GTG		0.652	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		13	19	0	0	0	1	0	13	19				
ARMC12	221481	broad.mit.edu	37	6	35716414	35716414	+	Missense_Mutation	SNP	G	G	A	rs200490512		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35716414G>A	ENST00000373866.3	+	6	812	c.790G>A	c.(790-792)Gca>Aca	p.A264T	ARMC12_ENST00000373869.3_Missense_Mutation_p.A254T|ARMC12_ENST00000288065.2_Missense_Mutation_p.A291T			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	264						nucleus (GO:0005634)											GGGCCGGAACGCACCCCACTA	0.557																																						ENST00000373866.3																			0											c.(790-792)Gca>Aca		armadillo repeat containing 12		G	THR/ALA	0,4406		0,0,2203	103.0	92.0	96.0		871	-2.1	0.0	6		96	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C6orf81	NM_145028.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	291/368	35716414	3,13003	2203	4300	6503	SO:0001583	missense	221481						binding	g.chr6:35716414G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.790G>A	6.37:g.35716414G>A	ENSP00000362973:p.Ala264Thr					ARMC12_ENST00000288065.2_Missense_Mutation_p.A291T|ARMC12_ENST00000373869.3_Missense_Mutation_p.A254T	p.A264T			Q5T9G4	CF081_HUMAN			6	812	+			264					Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37	c.790G>A		.	.	.	.	.	.	.	.	.	.	G	4.970	0.180128	0.09443	0.0	3.49E-4	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.63096	1.56;-0.02;-0.02	4.89	-2.14	0.07123	.	0.748593	0.11839	N	0.524513	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.06405	0.001;0.002	T	0.24083	-1.0170	10	0.17832	T	0.49	.	5.2849	0.15696	0.2301:0.0:0.3279:0.442	.	254;291	Q5T9G4-3;Q5T9G4-2	.;.	T	254;291;264	ENSP00000362976:A254T;ENSP00000288065:A291T;ENSP00000362973:A264T	ENSP00000288065:A291T	A	+	1	0	C6orf81	35824392	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.563000	0.05943	-0.735000	0.04837	0.650000	0.86243	GCA		0.557	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		24	44	0	0	0	1	0	24	44				
BUB3	9184	broad.mit.edu	37	10	124922226	124922226	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124922226A>G	ENST00000368865.4	+	7	1062	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	BUB3_ENST00000538238.1_Missense_Mutation_p.S205G|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.S285G|BUB3_ENST00000481952.1_3'UTR	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACTTGCCTTCAGTAATGATGG	0.433																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(853-855)Agt>Ggt		BUB3 mitotic checkpoint protein							129.0	116.0	121.0					10																	124922226		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124922226A>G	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.853A>G	10.37:g.124922226A>G	ENSP00000357858:p.Ser285Gly					BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.S285G|BUB3_ENST00000538238.1_Missense_Mutation_p.S205G|BUB3_ENST00000481952.1_3'UTR	p.S285G	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN			7	1062	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	285					A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.853A>G	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.009335	0.75046	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858	T;T;T	0.59638	0.25;1.12;0.25	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.079790	0.85682	D	0.000000	T	0.69886	0.3161	M	0.93594	3.435	0.80722	D	1	P;P	0.44521	0.823;0.837	B;B	0.41374	0.341;0.355	T	0.79907	-0.1605	10	0.72032	D	0.01	-8.4662	15.716	0.77670	1.0:0.0:0.0:0.0	.	285;285	O43684;O43684-2	BUB3_HUMAN;.	G	285;205;285	ENSP00000357858:S285G;ENSP00000444354:S205G;ENSP00000357851:S285G	ENSP00000357851:S285G	S	+	1	0	BUB3	124912216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.167000	0.68274	0.528000	0.53228	AGT		0.433	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			13	78	0	0	0	1	0	13	78				
NOS2	4843	broad.mit.edu	37	17	26110133	26110133	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26110133C>A	ENST00000313735.6	-	6	701		c.e6-1			NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible						arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TATTTTTGCCCTGGGGGACAG	0.483																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.e6-1		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						171.0	131.0	144.0					17																	26110133		2203	4300	6503	SO:0001630	splice_region_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26110133C>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.468-1G>T	17.37:g.26110133C>A								NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			6	701	-								A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Splice_Site	SNP	ENST00000313735.6	37		CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440707	0.83993	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7416	0.91775	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOS2	23134260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.161000	0.64935	2.677000	0.91161	0.508000	0.49915	.		0.483	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	Intron	18	45	1	0	1.87028e-06	1	2.164e-06	18	45				
PDGFD	80310	broad.mit.edu	37	11	103870925	103870925	+	Silent	SNP	G	G	A	rs148454316	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870925G>A	ENST00000393158.2	-	2	362	c.183C>T	c.(181-183)aaC>aaT	p.N61N	PDGFD_ENST00000302251.5_Silent_p.N55N			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	61	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCACGTAGCCGTTTCCTTTCA	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16994	0.0		0.0	False		,,,				2504	0.0					ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(163-165)aaC>aaT		platelet derived growth factor D		G	,	2,4402	4.2+/-10.8	0,2,2200	208.0	178.0	188.0		183,165	-7.1	0.2	11	dbSNP_134	188	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PDGFD	NM_025208.4,NM_033135.3	,	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	,	61/371,55/365	103870925	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870925G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.183C>T	11.37:g.103870925G>A						PDGFD_ENST00000393158.2_Silent_p.N61N	p.N55N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	616	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	61			CUB.		A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.165C>T	CCDS41703.1																																																																																				0.488	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		13	142	0	0	0	1	0	13	142				
SCN2A	6326	broad.mit.edu	37	2	166179943	166179943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166179943G>A	ENST00000375437.2	+	12	2239	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	SCN2A_ENST00000375427.2_Missense_Mutation_p.C650Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.C650Y|SCN2A_ENST00000357398.3_Missense_Mutation_p.C650Y	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	650					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGTGGACTGCAATGGTGTG	0.592																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1948-1950)tGc>tAc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						49.0	44.0	46.0					2																	166179943		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166179943G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1949G>A	2.37:g.166179943G>A	ENSP00000364586:p.Cys650Tyr					SCN2A_ENST00000375437.2_Missense_Mutation_p.C650Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.C650Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.C650Y	p.C650Y			Q99250	SCN2A_HUMAN			12	2239	+			650					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1949G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011299	0.93346	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000001	D	0.96993	0.9018	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.978;0.999	P;D	0.91635	0.637;0.999	D	0.97279	0.9916	10	0.72032	D	0.01	.	19.705	0.96069	0.0:0.0:1.0:0.0	.	650;650	Q99250-2;Q99250	.;SCN2A_HUMAN	Y	650	ENSP00000364586:C650Y;ENSP00000349973:C650Y;ENSP00000283256:C650Y;ENSP00000364576:C650Y	ENSP00000283256:C650Y	C	+	2	0	SCN2A	165888189	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.869000	0.99810	2.666000	0.90696	0.637000	0.83480	TGC		0.592	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		11	23	0	0	0	1	0	11	23				
DNAH3	55567	broad.mit.edu	37	16	20955878	20955878	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20955878C>A	ENST00000261383.3	-	58	11450	c.11451G>T	c.(11449-11451)ctG>ctT	p.L3817L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3817					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCCCTCAAACAGCTGGTTGG	0.552																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(11449-11451)ctG>ctT		dynein, axonemal, heavy chain 3							133.0	121.0	125.0					16																	20955878		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20955878C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11451G>T	16.37:g.20955878C>A						DNAH3_ENST00000415178.1_3'UTR	p.L3817L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	58	11450	-			3817					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.11451G>T	CCDS10594.1																																																																																				0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	74	1	0	0.00909568	1	0.00947522	4	74				
PEX6	5190	broad.mit.edu	37	6	42934528	42934528	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42934528C>A	ENST00000304611.8	-	9	2022	c.1953G>T	c.(1951-1953)aaG>aaT	p.K651N	PEX6_ENST00000244546.4_Missense_Mutation_p.K651N	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	651					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACCCTGAGTTCTTGATCCTGG	0.572																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(1951-1953)aaG>aaT		peroxisomal biogenesis factor 6							215.0	211.0	212.0					6																	42934528		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42934528C>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1953G>T	6.37:g.42934528C>A	ENSP00000303511:p.Lys651Asn					PEX6_ENST00000244546.4_Missense_Mutation_p.K651N	p.K651N	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		9	2022	-			651					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1953G>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493780	0.26774	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.95238	-3.36;-3.65	5.35	4.47	0.54385	.	0.891182	0.10193	N	0.704373	D	0.82930	0.5144	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.76005	-0.3117	10	0.45353	T	0.12	-11.2001	11.1411	0.48402	0.0:0.9122:0.0:0.0878	.	651	Q13608	PEX6_HUMAN	N	651	ENSP00000303511:K651N;ENSP00000244546:K651N	ENSP00000244546:K651N	K	-	3	2	PEX6	43042506	0.981000	0.34729	0.920000	0.36463	0.841000	0.47740	1.794000	0.38774	1.220000	0.43490	0.462000	0.41574	AAG		0.572	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		10	257	1	0	2.80697e-09	1	3.39963e-09	10	257				
SEL1L3	23231	broad.mit.edu	37	4	25789846	25789846	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25789846C>A	ENST00000399878.3	-	13	2339	c.2217G>T	c.(2215-2217)aaG>aaT	p.K739N	SEL1L3_ENST00000264868.5_Splice_Site_p.K704N|SEL1L3_ENST00000502949.1_Splice_Site_p.K586N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	739						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGATTCTTACCTTGAATAGCA	0.493																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.e13+1		sel-1 suppressor of lin-12-like 3 (C. elegans)							169.0	164.0	166.0					4																	25789846		1942	4153	6095	SO:0001630	splice_region_variant	23231					integral to membrane	binding	g.chr4:25789846C>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2217+1G>T	4.37:g.25789846C>A						SEL1L3_ENST00000502949.1_Splice_Site_p.K586_splice|SEL1L3_ENST00000264868.5_Splice_Site_p.K704_splice	p.K739_splice	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			13	2339	-			739					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Splice_Site	SNP	ENST00000399878.3	37	c.2217_splice	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928987	0.92389	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.48201	0.82;0.82;0.82	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.051609	0.85682	D	0.000000	T	0.57184	0.2036	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.963	T	0.53151	-0.8479	9	.	.	.	-26.1617	19.8145	0.96560	0.0:1.0:0.0:0.0	.	146;739	B4DTH5;Q68CR1	.;SE1L3_HUMAN	N	739;704;586	ENSP00000382767:K739N;ENSP00000264868:K704N;ENSP00000425438:K586N	.	K	-	3	2	SEL1L3	25398944	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.840000	0.75369	2.683000	0.91414	0.563000	0.77884	AAG		0.493	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	Missense_Mutation	51	101	1	0	4.33383e-22	1	5.71668e-22	51	101				
DOCK6	57572	broad.mit.edu	37	19	11319682	11319682	+	Missense_Mutation	SNP	C	C	T	rs537542258		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11319682C>T	ENST00000294618.7	-	38	4860	c.4849G>A	c.(4849-4851)Gcc>Acc	p.A1617T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.A956T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1617	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGCACTGGGCGGCCTCGGCG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		17005	0.0		0.0	False		,,,				2504	0.001					ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4849-4851)Gcc>Acc		dedicator of cytokinesis 6							17.0	21.0	19.0					19																	11319682		2031	4185	6216	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11319682C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4849G>A	19.37:g.11319682C>T	ENSP00000294618:p.Ala1617Thr					DOCK6_ENST00000319867.7_Missense_Mutation_p.A956T|CTC-510F12.2_ENST00000588634.1_RNA	p.A1617T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			38	4860	-			1617			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4849G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	c	36	5.855690	0.97030	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.37752	1.89;1.18	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.996	P;D;P	0.76071	0.889;0.987;0.889	T	0.73216	-0.4053	10	0.87932	D	0	-30.9492	17.4049	0.87470	0.0:1.0:0.0:0.0	.	956;1617;956	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	T	1617;956	ENSP00000294618:A1617T;ENSP00000321556:A956T	ENSP00000294618:A1617T	A	-	1	0	DOCK6	11180682	1.000000	0.71417	0.959000	0.39883	0.931000	0.56810	7.608000	0.82898	2.490000	0.84030	0.651000	0.88453	GCC		0.692	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	7	0	0	0	1	0	3	7				
RMI1	80010	broad.mit.edu	37	9	86616977	86616977	+	Missense_Mutation	SNP	C	C	T	rs368760165		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86616977C>T	ENST00000325875.3	+	3	1408	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	359					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCTAATACTACGAATAACTTT	0.323																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1075-1077)aCg>aTg		RecQ mediated genome instability 1							45.0	48.0	47.0					9																	86616977		2203	4298	6501	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86616977C>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1076C>T	9.37:g.86616977C>T	ENSP00000317039:p.Thr359Met						p.T359M	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1408	+			359					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1076C>T	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.204633	0.01568	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.44083	0.93;1.49	5.41	-4.21	0.03812	.	2.776300	0.01388	N	0.013146	T	0.24236	0.0587	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.41790	T	0.15	-0.7758	14.776	0.69732	0.0:0.6961:0.0:0.3039	.	359	Q9H9A7	RMI1_HUMAN	M	359	ENSP00000402433:T359M;ENSP00000317039:T359M	ENSP00000317039:T359M	T	+	2	0	RMI1	85806797	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-1.085000	0.03390	-0.697000	0.05092	-0.238000	0.12139	ACG		0.323	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		31	34	0	0	0	1	0	31	34				
NOM1	64434	broad.mit.edu	37	7	156743262	156743262	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156743262A>C	ENST00000275820.3	+	1	846	c.831A>C	c.(829-831)gaA>gaC	p.E277D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	277	Glu-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		aggaagcagaagcgcagagcg	0.542																																						ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(829-831)gaA>gaC		nucleolar protein with MIF4G domain 1							73.0	47.0	56.0					7																	156743262		2201	4298	6499	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743262A>C	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.831A>C	7.37:g.156743262A>C	ENSP00000275820:p.Glu277Asp						p.E277D	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	846	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	277			Glu-rich.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.831A>C	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507514	0.27036	.	.	ENSG00000146909	ENST00000275820	T	0.12984	2.63	4.25	-5.75	0.02384	.	4.311410	0.01020	N	0.003979	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28650	-1.0037	10	0.12103	T	0.63	.	2.8774	0.05635	0.2617:0.3143:0.3207:0.1033	.	277	Q5C9Z4	NOM1_HUMAN	D	277	ENSP00000275820:E277D	ENSP00000275820:E277D	E	+	3	2	NOM1	156436023	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.754000	0.04787	-0.781000	0.04548	-0.333000	0.08304	GAA		0.542	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		9	8	0	0	0	1	0	9	8				
MAPK13	5603	broad.mit.edu	37	6	36107125	36107125	+	Missense_Mutation	SNP	G	G	A	rs200916556		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36107125G>A	ENST00000211287.4	+	12	1335	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	MAPK13_ENST00000373761.6_Missense_Mutation_p.R348Q|MAPK13_ENST00000373766.5_3'UTR|Z95152.1_ENST00000408816.1_RNA	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	358					cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AAGGACTCACGGCGCCGGAGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19607	0.001		0.0	False		,,,				2504	0.0					ENST00000211287.4																			0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						c.(1072-1074)cGg>cAg		mitogen-activated protein kinase 13							97.0	81.0	86.0					6																	36107125		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36107125G>A	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.1073G>A	6.37:g.36107125G>A	ENSP00000211287:p.Arg358Gln					MAPK13_ENST00000373761.6_Missense_Mutation_p.R348Q|MAPK13_ENST00000373766.5_3'UTR	p.R358Q	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN			12	1335	+			358					O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.1073G>A	CCDS4818.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.05	3.290519	0.59976	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.58060	0.36;0.36	5.24	3.42	0.39159	.	0.156244	0.31495	N	0.007542	T	0.11836	0.0288	N	0.14661	0.345	0.80722	D	1	P	0.39181	0.663	B	0.21360	0.034	T	0.07829	-1.0752	10	0.28530	T	0.3	-33.769	6.0499	0.19779	0.2522:0.0:0.7478:0.0	.	358	O15264	MK13_HUMAN	Q	348;358;303	ENSP00000362866:R348Q;ENSP00000211287:R358Q	ENSP00000211287:R358Q	R	+	2	0	MAPK13	36215103	0.979000	0.34478	0.955000	0.39395	0.958000	0.62258	1.960000	0.40422	2.431000	0.82371	0.561000	0.74099	CGG		0.552	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			28	24	0	0	0	1	0	28	24				
WFS1	7466	broad.mit.edu	37	4	6304141	6304141	+	Silent	SNP	C	C	T	rs370977482		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304141C>T	ENST00000226760.1	+	8	2789	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	WFS1_ENST00000503569.1_Silent_p.G873G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	873					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGCATGGCGCCGTGAAGT	0.617																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2617-2619)ggC>ggT		Wolfram syndrome 1 (wolframin)		C	,	2,4404	4.2+/-10.8	0,2,2201	53.0	51.0	52.0		2619,2619	-1.9	1.0	4		52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	873/891,873/891	6304141	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6304141C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2619C>T	4.37:g.6304141C>T						WFS1_ENST00000503569.1_Silent_p.G873G	p.G873G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2789	+			873					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.2619C>T	CCDS3386.1																																																																																				0.617	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			14	14	0	0	0	1	0	14	14				
ACVR1B	91	broad.mit.edu	37	12	52369229	52369229	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52369229G>A	ENST00000257963.4	+	2	349	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACVR1B_ENST00000542485.1_Missense_Mutation_p.R39H|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R91H	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	91					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GAGGACCTGCGCAACACCCAC	0.597																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(271-273)cGc>cAc		activin A receptor, type IB	Adenosine triphosphate(DB00171)						108.0	83.0	91.0					12																	52369229		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52369229G>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.272G>A	12.37:g.52369229G>A	ENSP00000257963:p.Arg91His					ACVR1B_ENST00000415850.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R39H|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R91H	p.R91H	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	2	349	+			91					B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.272G>A	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917591	0.52546	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	T;T;T;D;T;T	0.97772	0.4;0.4;0.4;-4.53;0.4;0.4	4.88	4.88	0.63580	TGF-beta receptor/activin receptor, type I/II (1);	0.203984	0.42548	D	0.000696	D	0.95287	0.8471	L	0.40543	1.245	0.45594	D	0.99853	B;B;B;B	0.18461	0.005;0.007;0.002;0.028	B;B;B;B	0.18871	0.008;0.015;0.003;0.023	D	0.92874	0.6317	10	0.15499	T	0.54	.	18.9231	0.92534	0.0:0.0:1.0:0.0	.	91;91;91;91	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	H	91;91;91;39;91;39	ENSP00000257963:R91H;ENSP00000442656:R91H;ENSP00000390477:R91H;ENSP00000443218:R39H;ENSP00000397550:R91H;ENSP00000442885:R39H	ENSP00000257963:R91H	R	+	2	0	ACVR1B	50655496	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	3.165000	0.50778	2.643000	0.89663	0.650000	0.86243	CGC		0.597	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		12	25	0	0	0	1	0	12	25				
COL16A1	1307	broad.mit.edu	37	1	32157670	32157670	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32157670T>C	ENST00000373672.3	-	17	1711		c.e17-2		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTTCTGGCCCTGGGGAAGGAA	0.642																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.e17-2		collagen, type XVI, alpha 1							50.0	56.0	54.0					1																	32157670		2063	4197	6260	SO:0001630	splice_region_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32157670T>C	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1195-2A>G	1.37:g.32157670T>C						COL16A1_ENST00000271069.6_Splice_Site|COL16A1_ENST00000373668.3_Splice_Site		NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	17	1711	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)						Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37		CCDS41297.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937185	0.73557	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3039	0.49323	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31930257	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.063000	0.49978	1.997000	0.58415	0.379000	0.24179	.		0.642	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Intron	24	51	0	0	0	1	0	24	51				
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43343970	43343970	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43343970G>A	ENST00000585780.1	+	0	1615				MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA					MAP3K14 antisense RNA 1																		CTGGAGCTTCGAGCCTCGGCC	0.607																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							63.0	72.0	69.0					17																	43343970		1987	4166	6153			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43343970G>A	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43343970G>A						MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA				Q99558	M3K14_HUMAN			0	2617	-									RNA	SNP	ENST00000585780.1	37			.	.	.	.	.	.	.	.	.	.	G	40	7.950475	0.98577	.	.	ENSG00000006062	ENST00000344686	.	.	.	6.17	4.13	0.48395	.	0.232867	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9761	0.47467	0.0:0.1355:0.7144:0.1501	.	.	.	.	X	837	.	ENSP00000342059:R837X	R	-	1	2	MAP3K14	40699753	1.000000	0.71417	0.072000	0.20136	0.749000	0.42624	4.047000	0.57383	0.870000	0.35726	0.655000	0.94253	CGA		0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		43	78	0	0	0	1	0	43	78				
SEMA5A	9037	broad.mit.edu	37	5	9052040	9052040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9052040G>A	ENST00000382496.5	-	20	3455	c.2790C>T	c.(2788-2790)tgC>tgT	p.C930C	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	930	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTTCCCGGAGCACTGGCTGC	0.552																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2788-2790)tgC>tgT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							44.0	47.0	46.0					5																	9052040		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052040G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2790C>T	5.37:g.9052040G>A							p.C930C	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			20	3455	-			930			TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.2790C>T	CCDS3875.1																																																																																				0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			16	17	0	0	0	1	0	16	17				
MTA2	9219	broad.mit.edu	37	11	62361761	62361761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62361761G>T	ENST00000278823.2	-	17	2200	c.1811C>A	c.(1810-1812)cCt>cAt	p.P604H	MTA2_ENST00000527204.1_Missense_Mutation_p.P431H|MIR3654_ENST00000496634.2_5'Flank|TUT1_ENST00000476907.1_5'Flank|TUT1_ENST00000308436.7_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.P431H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	604					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAACACCACAGGATTGGGGGC	0.562																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1810-1812)cCt>cAt		metastasis associated 1 family, member 2							84.0	79.0	81.0					11																	62361761		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361761G>T	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1811C>A	11.37:g.62361761G>T	ENSP00000278823:p.Pro604His					MTA2_ENST00000524902.1_Missense_Mutation_p.P431H|MTA2_ENST00000527204.1_Missense_Mutation_p.P431H	p.P604H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			17	2200	-			604					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1811C>A	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514958	0.85389	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.46451	1.49;0.87;0.87	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.59247	-0.7490	10	0.59425	D	0.04	-12.5194	17.5005	0.87730	0.0:0.0:1.0:0.0	.	604	O94776	MTA2_HUMAN	H	604;431;431	ENSP00000278823:P604H;ENSP00000431346:P431H;ENSP00000431797:P431H	ENSP00000278823:P604H	P	-	2	0	MTA2	62118337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.810000	0.69179	2.731000	0.93534	0.650000	0.86243	CCT		0.562	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		12	31	1	0	9.31168e-06	1	1.06029e-05	12	31				
CYP46A1	10858	broad.mit.edu	37	14	100166439	100166439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100166439G>A	ENST00000261835.3	+	5	547		c.e5+1		CYP46A1_ENST00000423126.2_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCAGCCGGAGGTGAGTGTGGC	0.632																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.e5+1		cytochrome P450, family 46, subfamily A, polypeptide 1							56.0	50.0	52.0					14																	100166439		2203	4300	6503	SO:0001630	splice_region_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166439G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.443+1G>A	14.37:g.100166439G>A						CYP46A1_ENST00000423126.2_Splice_Site		NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN			5	547	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)						B4DHP8|E7EQG9|Q8N2B0	Splice_Site	SNP	ENST00000261835.3	37		CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967806	0.74131	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000380228	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1712	0.65510	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP46A1	99236192	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.110000	0.64622	2.618000	0.88619	0.655000	0.94253	.		0.632	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1		Intron	8	21	0	0	0	1	0	8	21				
ARID1B	57492	broad.mit.edu	37	6	157528784	157528784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528784C>T	ENST00000350026.5	+	19	6471	c.6470C>T	c.(6469-6471)gCc>gTc	p.A2157V	ARID1B_ENST00000275248.4_Missense_Mutation_p.A2152V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2210V|ARID1B_ENST00000346085.5_Missense_Mutation_p.A2170V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2157					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCACGATGGCCCAGTACCAG	0.572																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6508-6510)gCc>gTc		AT rich interactive domain 1B (SWI1-like)							107.0	94.0	98.0					6																	157528784		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528784C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6470C>T	6.37:g.157528784C>T	ENSP00000055163:p.Ala2157Val					ARID1B_ENST00000350026.5_Missense_Mutation_p.A2157V|ARID1B_ENST00000275248.4_Missense_Mutation_p.A2152V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2210V	p.A2170V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6510	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2157					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6509C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053389	0.36181	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.61	5.61	0.85477	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.47716	1.5	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.986	P;P;P	0.57101	0.813;0.716;0.716	T	0.09143	-1.0688	10	0.62326	D	0.03	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	2157;2170;2152	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	V	2170;2157;2210;2152;1679	ENSP00000344546:A2170V;ENSP00000055163:A2157V;ENSP00000356116:A2210V;ENSP00000275248:A2152V;ENSP00000412835:A1679V	ENSP00000275248:A2152V	A	+	2	0	ARID1B	157570476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.042000	0.70996	2.793000	0.96121	0.655000	0.94253	GCC		0.572	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		34	39	0	0	0	1	0	34	39				
SGK223	157285	broad.mit.edu	37	8	8185546	8185546	+	Missense_Mutation	SNP	C	C	T	rs543159193		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8185546C>T	ENST00000520004.1	-	5	3010	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	SGK223_ENST00000330777.4_Missense_Mutation_p.A916T			Q86YV5	SG223_HUMAN		918							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GAGGATGAGGCGGAGGGGGCC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		12967	0.001		0.0	False		,,,				2504	0.0				GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2746-2748)Gcc>Acc									31.0	37.0	35.0					8																	8185546		1951	4126	6077	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185546C>T																												ENST00000520004.1:c.2746G>A	8.37:g.8185546C>T	ENSP00000428054:p.Ala916Thr					SGK223_ENST00000330777.4_Missense_Mutation_p.A916T	p.A916T			Q86YV5	SG223_HUMAN			5	3010	-			916					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2746G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	5.024	0.190162	0.09547	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56776	0.44;0.44	4.73	0.0493	0.14289	.	0.943966	0.08805	N	0.891108	T	0.25865	0.0630	N	0.16478	0.41	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.21348	-1.0248	10	0.07030	T	0.85	.	0.9616	0.01397	0.1385:0.2751:0.2138:0.3726	.	916	Q86YV5	SG223_HUMAN	T	916	ENSP00000330930:A916T;ENSP00000428054:A916T	ENSP00000330930:A916T	A	-	1	0	AC068353.1	8222956	0.001000	0.12720	0.011000	0.14972	0.380000	0.30137	0.278000	0.18753	0.197000	0.20387	0.563000	0.77884	GCC		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			18	33	0	0	0	1	0	18	33				
EXO1	9156	broad.mit.edu	37	1	242024777	242024777	+	Silent	SNP	C	C	T	rs372371375		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:242024777C>T	ENST00000366548.3	+	10	1607	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	EXO1_ENST00000348581.5_Silent_p.I338I|EXO1_ENST00000518483.1_Silent_p.I338I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	338	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTGAACAGATCGATGACTACA	0.343								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(1012-1014)atC>atT	Editing and processing nucleases	exonuclease 1							79.0	80.0	80.0					1																	242024777		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242024777C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1014C>T	1.37:g.242024777C>T						EXO1_ENST00000348581.5_Silent_p.I338I|EXO1_ENST00000518483.1_Silent_p.I338I	p.I338I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		10	1607	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	338			Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.1014C>T	CCDS1620.1																																																																																				0.343	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		6	63	0	0	0	1	0	6	63				
FIGN	55137	broad.mit.edu	37	2	164468291	164468291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:164468291C>A	ENST00000333129.3	-	3	365	c.51G>T	c.(49-51)gaG>gaT	p.E17D	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	17					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGGGCATGCTCTGGCGTCC	0.478																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(49-51)gaG>gaT		fidgetin							65.0	66.0	66.0					2																	164468291		2067	4208	6275	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468291C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.51G>T	2.37:g.164468291C>A	ENSP00000333836:p.Glu17Asp					FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	p.E17D	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	365	-			17					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.51G>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033764	0.54896	.	.	ENSG00000182263	ENST00000333129	T	0.29142	1.58	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	T	0.57227	0.2039	M	0.70275	2.135	0.80722	D	1	D	0.58970	0.984	D	0.65443	0.935	T	0.50320	-0.8842	10	0.49607	T	0.09	-31.9305	20.8794	0.99867	0.0:1.0:0.0:0.0	.	17	Q5HY92	FIGN_HUMAN	D	17	ENSP00000333836:E17D	ENSP00000333836:E17D	E	-	3	2	FIGN	164176537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.994000	0.70623	2.941000	0.99782	0.655000	0.94253	GAG		0.478	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		19	34	1	0	1.00905e-13	1	1.28195e-13	19	34				
TRPC4AP	26133	broad.mit.edu	37	20	33637791	33637791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33637791C>A	ENST00000252015.2	-	6	624	c.535G>T	c.(535-537)Gga>Tga	p.G179*	TRPC4AP_ENST00000451813.2_Nonsense_Mutation_p.G179*|TRPC4AP_ENST00000432634.2_Nonsense_Mutation_p.G140*			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	179	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTTGTAACTCCCTCTGTCTGT	0.368																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(535-537)Gga>Tga		transient receptor potential cation channel, subfamily C, member 4 associated protein							98.0	92.0	94.0					20																	33637791		2203	4300	6503	SO:0001587	stop_gained	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33637791C>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.535G>T	20.37:g.33637791C>A	ENSP00000252015:p.Gly179*					TRPC4AP_ENST00000451813.1_Nonsense_Mutation_p.G179*|TRPC4AP_ENST00000432634.2_Nonsense_Mutation_p.G140*	p.G179*			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		6	624	-			179			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Nonsense_Mutation	SNP	ENST00000252015.2	37	c.535G>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647989	0.96714	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	179;179;140;164	.	ENSP00000252015:G179X	G	-	1	0	TRPC4AP	33101452	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GGA		0.368	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		5	56	1	0	0.0215528	1	0.0221649	5	56				
PHACTR1	221692	broad.mit.edu	37	6	13185034	13185034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185034C>A	ENST00000379345.2	+	5	474	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0					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)			CCCTCAGTGTCTGAAGAGAGT	0.572																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(232-234)tCt>tAt		phosphatase and actin regulator 1							155.0	147.0	149.0					6																	13185034		876	1991	2867	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185034C>A	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	ENST00000379345.2:c.233C>A	6.37:g.13185034C>A	ENSP00000368650:p.Ser78Tyr					PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron	p.S78Y			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	474	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	221					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379345.2	37	c.233C>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.484082	0.84854	.	.	ENSG00000112137	ENST00000432934;ENST00000379345;ENST00000434977	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.73187	0.3555	.	.	.	0.37885	D	0.930506	D	0.67145	0.996	P	0.59703	0.862	T	0.75007	-0.3469	7	0.59425	D	0.04	.	19.3207	0.94237	0.0:1.0:0.0:0.0	.	223	E7ESR5	.	Y	223;78;109	.	ENSP00000368650:S78Y	S	+	2	0	PHACTR1	13293013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.373000	0.73128	2.805000	0.96524	0.655000	0.94253	TCT		0.572	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		6	73	1	0	8.12818e-05	1	8.99451e-05	6	73				
PRMT6	55170	broad.mit.edu	37	1	107599821	107599821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:107599821C>A	ENST00000370078.1	+	1	521	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	PRMT6_ENST00000361318.5_Missense_Mutation_p.L103M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	162	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTACGGACTCCTGCACGAGTC	0.652																																						ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(307-309)Ctg>Atg		protein arginine methyltransferase 6							69.0	78.0	75.0					1																	107599821		2183	4290	6473	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107599821C>A	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.484C>A	1.37:g.107599821C>A	ENSP00000359095:p.Leu162Met					PRMT6_ENST00000370078.1_Missense_Mutation_p.L162M	p.L103M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	555	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	162					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.307C>A	CCDS41360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.86|12.86	2.063278|2.063278	0.36373|0.36373	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000361318;ENST00000370078|ENST00000540389	T;T|.	0.66815|.	-0.23;-0.23|.	5.75|5.75	3.88|3.88	0.44766|0.44766	.|.	0.085998|.	0.48767|.	D|.	0.000180|.	T|T	0.48857|0.48857	0.1523|0.1523	M|M	0.62154|0.62154	1.92|1.92	0.38824|0.38824	D|D	0.955707|0.955707	D|.	0.61080|.	0.989|.	D|.	0.68039|.	0.955|.	T|T	0.58470|0.58470	-0.7631|-0.7631	10|6	0.62326|0.87932	D|D	0.03|0	-2.6256|-2.6256	4.9712|4.9712	0.14117|0.14117	0.1687:0.6618:0.0:0.1695|0.1687:0.6618:0.0:0.1695	.|.	162|.	Q96LA8|.	ANM6_HUMAN|.	M|H	103;162|55	ENSP00000355145:L103M;ENSP00000359095:L162M|.	ENSP00000355145:L103M|ENSP00000440829:P55H	L|P	+|+	1|2	2|0	PRMT6|PRMT6	107401344|107401344	0.236000|0.236000	0.23804|0.23804	0.930000|0.930000	0.37139|0.37139	0.167000|0.167000	0.22549|0.22549	0.708000|0.708000	0.25719|0.25719	1.429000|1.429000	0.47314|0.47314	0.544000|0.544000	0.68410|0.68410	CTG|CCT		0.652	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		23	65	1	0	6.44725e-10	1	7.89499e-10	23	65				
MMP12	4321	broad.mit.edu	37	11	102736621	102736621	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736621T>C	ENST00000532855.1	-	0	1186							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GCTCTTGGGATAATTTGGCTC	0.318																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						68.0	68.0	68.0					11																	102736621		1798	4055	5853			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102736621T>C	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736621T>C										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1186	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.318	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		17	29	0	0	0	1	0	17	29				
ADAMTS7	11173	broad.mit.edu	37	15	79060602	79060602	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79060602C>A	ENST00000388820.4	-	17	2729		c.e17-1		ADAMTS7_ENST00000566303.1_Splice_Site	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCTGCACACCTAGGGGCCAC	0.647																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.e17-1		ADAM metallopeptidase with thrombospondin type 1 motif, 7							28.0	29.0	29.0					15																	79060602		2196	4291	6487	SO:0001630	splice_region_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79060602C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2519-1G>T	15.37:g.79060602C>A						ADAMTS7_ENST00000566303.1_Splice_Site		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			17	2729	-								Q14F51|Q6P7J9	Splice_Site	SNP	ENST00000388820.4	37		CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653320	0.47362	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1215	0.81361	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS7	76847657	1.000000	0.71417	0.590000	0.28732	0.293000	0.27360	5.719000	0.68462	2.137000	0.66172	0.471000	0.43371	.		0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	Intron	3	14	1	0	0.004672	1	0.0049138	3	14				
GAK	2580	broad.mit.edu	37	4	864679	864679	+	Missense_Mutation	SNP	C	C	T	rs140022645	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:864679C>T	ENST00000314167.4	-	19	2178	c.2068G>A	c.(2068-2070)Gcg>Acg	p.A690T	GAK_ENST00000511163.1_Missense_Mutation_p.A611T|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	690	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGTCACACGCGTCCAGGTCA	0.512													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17576	0.001		0.0	False		,,,				2504	0.0					ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(2068-2070)Gcg>Acg		cyclin G associated kinase							74.0	75.0	75.0					4																	864679		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:864679C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2068G>A	4.37:g.864679C>T	ENSP00000314499:p.Ala690Thr					GAK_ENST00000511163.1_Missense_Mutation_p.A611T|GAK_ENST00000509566.1_5'UTR	p.A690T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	19	2178	-			690			C2 tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2068G>A	CCDS3340.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.3	3.962617	0.74016	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.84730	-1.89;-1.89	5.6	5.6	0.85130	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	L	0.52759	1.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.992;0.996;0.996	D	0.90047	0.4146	10	0.51188	T	0.08	-30.6175	17.1142	0.86684	0.0:1.0:0.0:0.0	.	611;611;690;586	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	T	690;611	ENSP00000314499:A690T;ENSP00000421361:A611T	ENSP00000314499:A690T	A	-	1	0	GAK	854679	1.000000	0.71417	0.928000	0.36995	0.241000	0.25554	7.649000	0.83500	2.634000	0.89283	0.643000	0.83706	GCG		0.512	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		19	31	0	0	0	1	0	19	31				
ACTRT2	140625	broad.mit.edu	37	1	2938559	2938559	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938559C>T	ENST00000378404.2	+	1	514	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	103						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGAAACCCAGCGACCAGCCCC	0.597																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(307-309)agC>agT		actin-related protein T2							79.0	79.0	79.0					1																	2938559		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938559C>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.309C>T	1.37:g.2938559C>T							p.S103S	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	514	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	103					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.309C>T	CCDS45.1																																																																																				0.597	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		23	35	0	0	0	1	0	23	35				
RGS9	8787	broad.mit.edu	37	17	63156443	63156443	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63156443C>A	ENST00000262406.9	+	4	365	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	RGS9_ENST00000449996.3_Missense_Mutation_p.L100I|RGS9_ENST00000443584.3_Missense_Mutation_p.L100I|RGS9_ENST00000577186.1_3'UTR	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	100	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGATGGCAGCCTCTACAGATT	0.473																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(298-300)Ctc>Atc		regulator of G-protein signaling 9							80.0	74.0	76.0					17																	63156443		1868	4113	5981	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63156443C>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.298C>A	17.37:g.63156443C>A	ENSP00000262406:p.Leu100Ile					RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.L100I|RGS9_ENST00000262406.9_Missense_Mutation_p.L100I	p.L100I	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			4	370	+			100			DEP.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.298C>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308878	0.23821	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.24723	1.84;1.84;1.84	5.67	5.67	0.87782	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	M	0.76574	2.34	0.49582	D	0.999807	D;D;D	0.71674	0.985;0.998;0.997	D;D;D	0.87578	0.989;0.998;0.997	T	0.53535	-0.8425	10	0.62326	D	0.03	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	100;100;100	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	I	100	ENSP00000262406:L100I;ENSP00000396329:L100I;ENSP00000405814:L100I	ENSP00000262406:L100I	L	+	1	0	RGS9	60586905	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	5.870000	0.69620	2.661000	0.90470	0.655000	0.94253	CTC		0.473	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		4	73	1	0	0.000602214	1	0.000649039	4	73				
ZNF812	729648	broad.mit.edu	37	19	9801183	9801183	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9801183G>T	ENST00000457674.2	-	5	1514	c.996C>A	c.(994-996)caC>caA	p.H332Q	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						TACACTGATAGTGTTTCTCTC	0.418																																						ENST00000457674.2																			0				ovary(1)	1						c.(994-996)caC>caA		zinc finger protein 812																																				SO:0001583	missense	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9801183G>T		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.996C>A	19.37:g.9801183G>T	ENSP00000395629:p.His332Gln					ZNF812_ENST00000536819.1_5'UTR	p.H332Q	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			5	1514	-			332						Missense_Mutation	SNP	ENST00000457674.2	37	c.996C>A	CCDS54215.1	.	.	.	.	.	.	.	.	.	.	g	6.785	0.513777	0.12944	.	.	ENSG00000224689	ENST00000457674	T	0.17213	2.29	1.42	-1.22	0.09494	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	N	0.12663	0.25	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.35724	-0.9777	9	0.72032	D	0.01	.	0.0881	0.00037	0.3243:0.2452:0.1873:0.2431	.	332	P0C7V5	ZN812_HUMAN	Q	332	ENSP00000395629:H332Q	ENSP00000395629:H332Q	H	-	3	2	ZNF812	9662183	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	-5.065000	0.00155	-0.435000	0.07264	0.195000	0.17529	CAC		0.418	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1			12	63	1	0	2.80697e-09	1	3.39963e-09	12	63				
SV2C	22987	broad.mit.edu	37	5	75621360	75621360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75621360G>T	ENST00000502798.2	+	13	2614	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	724					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CACGAACCCAGGTTCTGATGT	0.517																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2170-2172)caG>caT		synaptic vesicle glycoprotein 2C							103.0	101.0	102.0					5																	75621360		2013	4186	6199	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75621360G>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.2172G>T	5.37:g.75621360G>T	ENSP00000423541:p.Gln724His					SV2C_ENST00000322285.7_Intron	p.Q724H	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	13	2614	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	724					Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.2172G>T	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871226	0.51695	.	.	ENSG00000122012	ENST00000502798	T	0.76316	-1.01	5.62	3.83	0.44106	Major facilitator superfamily domain, general substrate transporter (1);	0.108809	0.64402	D	0.000006	T	0.70185	0.3195	L	0.33485	1.01	0.80722	D	1	B	0.32467	0.372	B	0.39152	0.292	T	0.70498	-0.4855	10	0.52906	T	0.07	-17.4239	10.4643	0.44598	0.2083:0.0:0.7917:0.0	.	724	Q496J9	SV2C_HUMAN	H	724	ENSP00000423541:Q724H	ENSP00000423541:Q724H	Q	+	3	2	SV2C	75657116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.510000	0.35790	1.376000	0.46267	0.561000	0.74099	CAG		0.517	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			27	37	1	0	2.12542e-12	1	2.67336e-12	27	37				
IL34	146433	broad.mit.edu	37	16	70694006	70694006	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70694006G>A	ENST00000288098.2	+	6	1028	c.645G>A	c.(643-645)ccG>ccA	p.P215P	FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Silent_p.P190P|IL34_ENST00000429149.2_Silent_p.P215P	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	215					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGTACCCTCCGCCCCCGTGGT	0.662																																						ENST00000429149.2																			0				breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(643-645)ccG>ccA		interleukin 34							61.0	71.0	68.0					16																	70694006		2198	4300	6498	SO:0001819	synonymous_variant	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70694006G>A	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.645G>A	16.37:g.70694006G>A						IL34_ENST00000566361.1_Silent_p.P190P|IL34_ENST00000288098.2_Silent_p.P215P	p.P215P	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1200	+			215					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Silent	SNP	ENST00000288098.2	37	c.645G>A	CCDS10895.1																																																																																				0.662	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		49	63	0	0	0	1	0	49	63				
PPP2R2C	5522	broad.mit.edu	37	4	6473900	6473900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473900G>A	ENST00000382599.4	-	1	273	c.57C>T	c.(55-57)agC>agT	p.S19S	PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	19					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CAGTCACATAGCTGTGGTCCC	0.647																																						ENST00000382599.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(55-57)agC>agT		protein phosphatase 2, regulatory subunit B, gamma							172.0	153.0	160.0					4																	6473900		2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6473900G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.57C>T	4.37:g.6473900G>A						PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000314348.8_Intron	p.S19S			Q9Y2T4	2ABG_HUMAN			1	273	-			19					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.57C>T																																																																																					0.647	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		28	55	0	0	0	1	0	28	55				
PLXNA2	5362	broad.mit.edu	37	1	208201469	208201469	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208201469C>A	ENST00000367033.3	-	31	6231	c.5474G>T	c.(5473-5475)aGt>aTt	p.S1825I	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1825					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCTGGTCACTGATGGCTGG	0.567																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(5473-5475)aGt>aTt		plexin A2							150.0	143.0	146.0					1																	208201469		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208201469C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5474G>T	1.37:g.208201469C>A	ENSP00000356000:p.Ser1825Ile					PLXNA2_ENST00000483048.1_5'UTR	p.S1825I	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	31	6231	-			1825					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.5474G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924276	0.92319	.	.	ENSG00000076356	ENST00000367033	T	0.19532	2.14	5.32	5.32	0.75619	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.085246	0.85682	D	0.000000	T	0.58807	0.2148	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	T	0.70114	-0.4961	10	0.87932	D	0	.	19.0298	0.92952	0.0:1.0:0.0:0.0	.	1825;95	O75051;Q9HAE7	PLXA2_HUMAN;.	I	1825	ENSP00000356000:S1825I	ENSP00000356000:S1825I	S	-	2	0	PLXNA2	206268092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.741000	0.68638	2.486000	0.83907	0.650000	0.86243	AGT		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		7	155	1	0	0.0381472	1	0.0390147	7	155				
EPPK1	83481	broad.mit.edu	37	8	144943428	144943428	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943428A>C	ENST00000525985.1	-	2	4065	c.3994T>G	c.(3994-3996)Tct>Gct	p.S1332A				P58107	EPIPL_HUMAN	epiplakin 1	1332						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGCCCTAGAGTAGGGATCT	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3994-3996)Tct>Gct		epiplakin 1							34.0	40.0	38.0					8																	144943428		1912	4103	6015	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943428A>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3994T>G	8.37:g.144943428A>C	ENSP00000436337:p.Ser1332Ala						p.S1332A			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4065	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1332					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.3994T>G		.	.	.	.	.	.	.	.	.	.	A	10.36	1.328084	0.24080	.	.	ENSG00000227184	ENST00000525985	T	0.71222	-0.55	4.4	0.0731	0.14389	.	.	.	.	.	T	0.64114	0.2569	L	0.31926	0.97	0.20074	N	0.999937	P	0.52170	0.951	P	0.49799	0.622	T	0.55655	-0.8107	9	0.54805	T	0.06	.	8.4435	0.32828	0.3617:0.0:0.0:0.6382	.	1332	E9PPU0	.	A	1332	ENSP00000436337:S1332A	ENSP00000436337:S1332A	S	-	1	0	EPPK1	145015416	0.997000	0.39634	0.102000	0.21198	0.012000	0.07955	0.674000	0.25218	0.200000	0.20447	-0.695000	0.03696	TCT		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		27	34	0	0	0	1	0	27	34				
SECISBP2L	9728	broad.mit.edu	37	15	49327791	49327791	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49327791A>G	ENST00000559471.1	-	3	531	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	90							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGGCAAAGTATGGTCCAGTA	0.403																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(268-270)Tac>Cac		SECIS binding protein 2-like							112.0	114.0	113.0					15																	49327791		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49327791A>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.268T>C	15.37:g.49327791A>G	ENSP00000453854:p.Tyr90His					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			3	531	-			90					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.268T>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514707	0.85389	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.85861	-2.04	5.57	5.57	0.84162	.	0.058409	0.64402	D	0.000001	D	0.88610	0.6483	L	0.34521	1.04	0.52099	D	0.999945	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.90074	0.4165	10	0.87932	D	0	.	15.7316	0.77810	1.0:0.0:0.0:0.0	.	90;90	Q93073;Q93073-2	SBP2L_HUMAN;.	H	90	ENSP00000261847:Y90H	ENSP00000261847:Y90H	Y	-	1	0	SECISBP2L	47115083	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.667000	0.91153	2.114000	0.64651	0.533000	0.62120	TAC		0.403	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		40	57	0	0	0	1	0	40	57				
PODN	127435	broad.mit.edu	37	1	53544532	53544532	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53544532T>C	ENST00000312553.5	+	8	1501	c.1494T>C	c.(1492-1494)ccT>ccC	p.P498P	PODN_ENST00000371500.3_Silent_p.P479P|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.P356P	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	450					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGGCTGCCTCGAAATGTCC	0.672																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1435-1437)ccT>ccC		podocan							38.0	31.0	33.0					1																	53544532		2202	4298	6500	SO:0001819	synonymous_variant	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544532T>C	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1494T>C	1.37:g.53544532T>C						RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.P356P|PODN_ENST00000312553.5_Silent_p.P498P	p.P479P	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			10	1778	+			450					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	c.1437T>C	CCDS573.1																																																																																				0.672	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		4	19	0	0	0	1	0	4	19				
SPATA31A6	389730	broad.mit.edu	37	9	43629308	43629308	+	Missense_Mutation	SNP	G	G	A	rs539097305		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:43629308G>A	ENST00000332857.6	-	2	230	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	68	Poly-Arg.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCCGCCTCCGCCCTACTGGA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13679	0.0		0.0	False		,,,				2504	0.0					ENST00000332857.6																			0											c.(202-204)Cgg>Tgg		SPATA31 subfamily A, member 6																																				SO:0001583	missense	389730							g.chr9:43629308G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.202C>T	9.37:g.43629308G>A	ENSP00000329825:p.Arg68Trp						p.R68W	NM_001145196.1	NP_001138668.1					2	230	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.202C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	5.150	0.213355	0.09757	.	.	ENSG00000185775	ENST00000332857	T	0.04083	3.71	1.99	-3.55	0.04639	.	3.735610	0.02072	N	0.051632	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	10	0.51188	T	0.08	.	4.3957	0.11362	0.0:0.1615:0.5276:0.3109	.	68	Q5VVP1	F75A6_HUMAN	W	68	ENSP00000329825:R68W	ENSP00000329825:R68W	R	-	1	2	FAM75A6	43569304	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.302000	0.02746	-0.730000	0.04869	-0.784000	0.03344	CGG		0.542	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		39	120	0	0	0	1	0	39	120				
TGFB1I1	7041	broad.mit.edu	37	16	31487396	31487396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31487396G>A	ENST00000394863.3	+	8	908	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A243T|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A243T|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A243T	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	260	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CTGTTCCACCGCCCTGGGAGG	0.657																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(778-780)Gcc>Acc		transforming growth factor beta 1 induced transcript 1							62.0	56.0	58.0					16																	31487396		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31487396G>A	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.778G>A	16.37:g.31487396G>A	ENSP00000378332:p.Ala260Thr					TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A243T|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A243T|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A243T	p.A260T	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			8	908	+			260			LIM zinc-binding 1.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.778G>A	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519320	0.64634	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	D;D;D	0.87029	-2.2;-2.2;-2.2	5.4	0.808	0.18719	Zinc finger, LIM-type (5);	0.468196	0.24686	N	0.036421	T	0.65739	0.2720	N	0.04746	-0.17	0.24754	N	0.992966	B	0.10296	0.003	B	0.08055	0.003	T	0.51196	-0.8736	10	0.25106	T	0.35	.	1.9001	0.03266	0.2029:0.1531:0.4869:0.1571	.	260	O43294	TGFI1_HUMAN	T	260;243;243	ENSP00000378332:A260T;ENSP00000355117:A243T;ENSP00000378327:A243T	ENSP00000355117:A243T	A	+	1	0	TGFB1I1	31394897	0.994000	0.37717	0.107000	0.21349	0.905000	0.53344	3.293000	0.51779	-0.021000	0.14009	0.655000	0.94253	GCC		0.657	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			32	27	0	0	0	1	0	32	27				
IRF7	3665	broad.mit.edu	37	11	612999	612999	+	Splice_Site	SNP	C	C	A	rs200063173		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:612999C>A	ENST00000397574.2	-	10	1725	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	IRF7_ENST00000397562.3_Splice_Site_p.K159N|IRF7_ENST00000330243.5_Splice_Site_p.K465N|IRF7_ENST00000525445.1_Splice_Site_p.K346N|IRF7_ENST00000397570.1_Splice_Site_p.K423N|IRF7_ENST00000348655.6_Splice_Site_p.K423N|IRF7_ENST00000397566.1_Splice_Site_p.K465N	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	452					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTCTCACCTTCACCAGGA	0.652																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.e8+1		interferon regulatory factor 7							81.0	73.0	76.0					11																	612999		2203	4300	6503	SO:0001630	splice_region_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:612999C>A	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1356+1G>T	11.37:g.612999C>A						IRF7_ENST00000330243.5_Splice_Site_p.K465_splice|IRF7_ENST00000397570.1_Splice_Site_p.K423_splice|IRF7_ENST00000397574.2_Splice_Site_p.K452_splice|IRF7_ENST00000348655.6_Splice_Site_p.K423_splice|IRF7_ENST00000397562.3_Splice_Site_p.K159_splice|IRF7_ENST00000525445.1_Splice_Site_p.K346_splice	p.K465_splice	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1804	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	452					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Splice_Site	SNP	ENST00000397574.2	37	c.1395_splice	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534460	0.64972	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	4.0	4.0	0.46444	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.118716	0.56097	D	0.000037	D	0.96944	0.9002	M	0.79123	2.44	0.48395	D	0.999643	D;D;D;D	0.89917	1.0;0.979;1.0;1.0	D;D;D;D	0.97110	1.0;0.967;0.998;0.999	D	0.96297	0.9218	9	.	.	.	-34.9934	9.4614	0.38787	0.0:0.9013:0.0:0.0987	.	346;423;452;465	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	N	346;423;423;465;452;159;465	ENSP00000434009:K346N;ENSP00000331803:K423N;ENSP00000380700:K423N;ENSP00000380697:K465N;ENSP00000380704:K452N;ENSP00000380693:K159N;ENSP00000329411:K465N	.	K	-	3	2	IRF7	602999	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.160000	0.42348	2.234000	0.73211	0.561000	0.74099	AAG		0.652	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572	Missense_Mutation	11	80	1	0	0.000673444	1	0.000724755	11	80				
ANKRD13A	88455	broad.mit.edu	37	12	110461861	110461861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110461861G>A	ENST00000261739.4	+	7	911	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	249						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTAAATCCGGATTCTGGGG	0.348																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(745-747)Gga>Aga		ankyrin repeat domain 13A							195.0	220.0	211.0					12																	110461861		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110461861G>A	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.745G>A	12.37:g.110461861G>A	ENSP00000261739:p.Gly249Arg						p.G249R	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			7	911	+			249					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.745G>A	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177545	0.94846	.	.	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000546476	T	0.62364	0.03	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.83783	0.5329	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.85889	0.1427	10	0.87932	D	0	-15.4295	19.5894	0.95501	0.0:0.0:1.0:0.0	.	249;249	B4DYP5;Q8IZ07	.;AN13A_HUMAN	R	34;249;20	ENSP00000261739:G249R	ENSP00000261738:G34R	G	+	1	0	ANKRD13A	108946244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.804000	0.99143	2.878000	0.98634	0.650000	0.86243	GGA		0.348	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		20	216	0	0	0	1	0	20	216				
SUN3	256979	broad.mit.edu	37	7	48068486	48068486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48068486C>T	ENST00000297325.4	-	1	209	c.50G>A	c.(49-51)tGc>tAc	p.C17Y	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.C17Y|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	17						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTTCAGAGCAACGTCTAAA	0.483																																						ENST00000297325.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(49-51)tGc>tAc		Sad1 and UNC84 domain containing 3							166.0	151.0	156.0					7																	48068486		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48068486C>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.50G>A	7.37:g.48068486C>T	ENSP00000297325:p.Cys17Tyr					SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.C17Y	p.C17Y	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN			1	209	-			17					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.50G>A	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	6.525	0.465015	0.12402	.	.	ENSG00000164744	ENST00000297325;ENST00000395572	T;T	0.22743	1.94;1.94	3.87	-2.54	0.06307	.	3.829470	0.00725	N	0.000911	T	0.13243	0.0321	N	0.19112	0.55	0.09310	N	0.999998	B	0.06786	0.001	B	0.01281	0.0	T	0.20605	-1.0270	10	0.37606	T	0.19	-9.0376	4.8517	0.13540	0.0:0.3428:0.1608:0.4964	.	17	Q8TAQ9	SUN3_HUMAN	Y	17	ENSP00000297325:C17Y;ENSP00000378939:C17Y	ENSP00000297325:C17Y	C	-	2	0	SUN3	48035011	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.747000	0.04823	-0.546000	0.06216	-0.150000	0.13652	TGC		0.483	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		5	101	0	0	0	1	0	5	101				
POLE2	5427	broad.mit.edu	37	14	50122474	50122474	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50122474C>T	ENST00000216367.5	-	11	942	c.843G>A	c.(841-843)gaG>gaA	p.E281E	POLE2_ENST00000539565.2_Silent_p.E255E|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.E281E	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	281					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CATCTTTATTCTCCTCTTCTA	0.333																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(763-765)gaG>gaA		polymerase (DNA directed), epsilon 2, accessory subunit							205.0	213.0	211.0					14																	50122474		2203	4300	6503	SO:0001819	synonymous_variant	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50122474C>T	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.843G>A	14.37:g.50122474C>T						POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.E281E|POLE2_ENST00000216367.5_Silent_p.E281E	p.E255E	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			10	983	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		281					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	ENST00000216367.5	37	c.765G>A	CCDS32073.1																																																																																				0.333	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		81	137	0	0	0	1	0	81	137				
ACSL1	2180	broad.mit.edu	37	4	185684330	185684330	+	Silent	SNP	G	G	A	rs370223408		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185684330G>A	ENST00000515030.1	-	16	1837	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	ACSL1_ENST00000454703.2_Silent_p.G333G|ACSL1_ENST00000281455.2_Silent_p.G504G|ACSL1_ENST00000507295.1_Silent_p.G470G|ACSL1_ENST00000437665.3_Silent_p.G333G|ACSL1_ENST00000504342.1_Silent_p.G504G|ACSL1_ENST00000513317.1_Silent_p.G504G			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	504					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCGCCCTCGCCCTCGGCAG	0.478																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1510-1512)ggC>ggT		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	G		0,4406		0,0,2203	66.0	64.0	64.0		1512	-3.2	1.0	4		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACSL1	NM_001995.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		504/699	185684330	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185684330G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1512C>T	4.37:g.185684330G>A						ACSL1_ENST00000437665.3_Silent_p.G333G|ACSL1_ENST00000281455.2_Silent_p.G504G|ACSL1_ENST00000513317.1_Silent_p.G504G|ACSL1_ENST00000507295.1_Silent_p.G470G|ACSL1_ENST00000454703.2_Silent_p.G333G|ACSL1_ENST00000504342.1_Silent_p.G504G	p.G504G			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	16	1837	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	504					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	c.1512C>T	CCDS3839.1																																																																																				0.478	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		12	23	0	0	0	1	0	12	23				
ANKRD6	22881	broad.mit.edu	37	6	90340257	90340257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90340257G>A	ENST00000522441.1	+	16	2359	c.1718G>A	c.(1717-1719)aGa>aAa	p.R573K	ANKRD6_ENST00000520793.1_Missense_Mutation_p.R509K|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R538K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R568K|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R573K	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	573					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCTACCCAGAGACTCCAGCAG	0.567																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1612-1614)aGa>aAa		ankyrin repeat domain 6							37.0	38.0	38.0					6																	90340257		1953	4138	6091	SO:0001583	missense	22881						protein binding	g.chr6:90340257G>A	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1718G>A	6.37:g.90340257G>A	ENSP00000430985:p.Arg573Lys					ANKRD6_ENST00000522441.1_Missense_Mutation_p.R573K|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R573K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R568K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R509K|LYRM2_ENST00000520441.1_Intron	p.R538K	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	15	1962	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	573					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1613G>A	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	G	1.053	-0.675192	0.03378	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T;T;T;T;T	0.69561	1.08;1.06;1.06;1.06;-0.41	4.76	2.97	0.34412	.	0.448306	0.20761	N	0.086170	T	0.25195	0.0612	L	0.31294	0.92	0.21256	N	0.999744	B;B;B;B	0.26577	0.153;0.004;0.012;0.004	B;B;B;B	0.19148	0.024;0.007;0.017;0.003	T	0.15752	-1.0426	10	0.12103	T	0.63	-2.3023	8.4602	0.32923	0.2382:0.0:0.7618:0.0	.	509;573;538;568	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	K	538;573;568;573;509	ENSP00000358416:R538K;ENSP00000345767:R573K;ENSP00000396771:R568K;ENSP00000430985:R573K;ENSP00000429782:R509K	ENSP00000345767:R573K	R	+	2	0	ANKRD6	90396978	0.284000	0.24287	0.164000	0.22755	0.005000	0.04900	2.093000	0.41710	0.718000	0.32166	0.563000	0.77884	AGA		0.567	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			9	17	0	0	0	1	0	9	17				
ATG101	60673	broad.mit.edu	37	12	52470943	52470943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470943G>A	ENST00000336854.4	+	4	1104	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RP11-1100L3.7_ENST00000550301.1_RNA|OR7E47P_ENST00000546390.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		209					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACCACCATGCGCAGGCTCATC	0.567																																						ENST00000336854.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(625-627)cGc>cAc		chromosome 12 open reading frame 44							77.0	75.0	76.0					12																	52470943		2203	4300	6503	SO:0001583	missense	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470943G>A																												ENST00000336854.4:c.626G>A	12.37:g.52470943G>A	ENSP00000338990:p.Arg209His					RP11-1100L3.7_ENST00000550301.1_RNA	p.R209H	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	1104	+			209					Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	37	c.626G>A	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584404	0.65992	.	.	ENSG00000123395	ENST00000336854;ENST00000550984	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.42245	1.32	0.58432	D	0.999999	B	0.31413	0.322	B	0.21151	0.033	T	0.51942	-0.8641	9	0.48119	T	0.1	-23.3269	17.1444	0.86762	0.0:0.0:1.0:0.0	.	209	Q9BSB4	ATGA1_HUMAN	H	209	.	ENSP00000338990:R209H	R	+	2	0	C12orf44	50757210	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.059000	0.93902	2.652000	0.90054	0.655000	0.94253	CGC		0.567	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			19	27	0	0	0	1	0	19	27				
CFAP69	79846	broad.mit.edu	37	7	89936342	89936342	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89936342C>A	ENST00000389297.4	+	20	2644	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.S752Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.S780Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		798										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATGGTTGCTTCTCTGCAAAGT	0.338																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(2392-2394)tCt>tAt		chromosome 7 open reading frame 63							64.0	61.0	62.0					7																	89936342		1843	4086	5929	SO:0001583	missense	79846						binding	g.chr7:89936342C>A																												ENST00000389297.4:c.2393C>A	7.37:g.89936342C>A	ENSP00000373948:p.Ser798Tyr					C7orf63_ENST00000497910.1_Missense_Mutation_p.S780Y|C7orf63_ENST00000316089.8_Missense_Mutation_p.S752Y	p.S798Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			20	2644	+			798					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.2393C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637940	0.67130	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.24538	2.47;2.42;2.47;1.85	5.54	5.54	0.83059	.	0.292625	0.31145	N	0.008177	T	0.35740	0.0942	L	0.50919	1.6	0.30490	N	0.771428	B;D	0.54207	0.205;0.965	B;P	0.51135	0.083;0.66	T	0.33954	-0.9848	10	0.66056	D	0.02	-11.7713	15.0063	0.71516	0.0:0.8579:0.1421:0.0	.	780;798	A5D8W1-5;A5D8W1	.;CG063_HUMAN	Y	798;752;780;335	ENSP00000373948:S798Y;ENSP00000321753:S752Y;ENSP00000419549:S780Y;ENSP00000391571:S335Y	ENSP00000321753:S752Y	S	+	2	0	C7orf63	89774278	0.084000	0.21492	1.000000	0.80357	0.997000	0.91878	1.735000	0.38176	2.594000	0.87642	0.591000	0.81541	TCT		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			22	20	1	0	2.21704e-12	1	2.7869e-12	22	20				
HSPB11	51668	broad.mit.edu	37	1	54395798	54395798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54395798G>A	ENST00000194214.5	-	3	508	c.119C>T	c.(118-120)aCc>aTc	p.T40I	HSPB11_ENST00000371377.3_Missense_Mutation_p.T40I|HSPB11_ENST00000371378.2_Missense_Mutation_p.T40I|HSPB11_ENST00000489675.1_5'Flank|HSPB11_ENST00000371376.1_Missense_Mutation_p.T40I	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	40					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCCTGTGGTGGTCCAAAACGT	0.294																																						ENST00000194214.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						c.(118-120)aCc>aTc		heat shock protein family B (small), member 11							88.0	82.0	83.0					1																	54395798		1794	4059	5853	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54395798G>A	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.119C>T	1.37:g.54395798G>A	ENSP00000194214:p.Thr40Ile					HSPB11_ENST00000371376.1_Missense_Mutation_p.T40I|HSPB11_ENST00000371377.3_Missense_Mutation_p.T40I|HSPB11_ENST00000371378.2_Missense_Mutation_p.T40I	p.T40I	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN			3	508	-			40					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.119C>T	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900423	0.17686	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77	5.96	5.04	0.67666	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.150957	0.64402	D	0.000016	D	0.97393	0.9147	L	0.43757	1.38	0.38180	D	0.939587	P;B	0.34909	0.475;0.053	P;B	0.52217	0.693;0.066	D	0.94913	0.8066	10	0.18710	T	0.47	-6.3473	10.0913	0.42449	0.0885:0.0:0.9115:0.0	.	40;40	A6NIR2;Q9Y547	.;HSB11_HUMAN	I	40	ENSP00000194214:T40I;ENSP00000360429:T40I;ENSP00000360428:T40I;ENSP00000360427:T40I	ENSP00000194214:T40I	T	-	2	0	HSPB11	54168386	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	2.540000	0.45727	2.833000	0.97629	0.591000	0.81541	ACC		0.294	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		35	58	0	0	0	1	0	35	58				
CDX2	1045	broad.mit.edu	37	13	28537431	28537431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28537431G>A	ENST00000381020.7	-	3	2895	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	255	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGTGgctgctgctgctgttgc	0.552			T	ETV6	AML																																	ENST00000381020.7				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(763-765)Cag>Tag		caudal type homeobox 2							76.0	54.0	62.0					13																	28537431		2202	4300	6502	SO:0001587	stop_gained	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28537431G>A	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.763C>T	13.37:g.28537431G>A	ENSP00000370408:p.Gln255*					CDX2_ENST00000548877.1_5'UTR	p.Q255*	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	3	2895	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	255			Poly-Gln.		O00503|Q5VTU7|Q969L8|Q9UD92	Nonsense_Mutation	SNP	ENST00000381020.7	37	c.763C>T	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	G	53	20.422971	0.99930	.	.	ENSG00000165556	ENST00000381020	.	.	.	5.48	5.48	0.80851	.	0.165964	0.29587	N	0.011722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-10.3444	17.5307	0.87814	0.0:0.0:1.0:0.0	.	.	.	.	X	255	.	ENSP00000370408:Q255X	Q	-	1	0	CDX2	27435431	0.836000	0.29430	0.999000	0.59377	0.894000	0.52154	1.922000	0.40045	2.572000	0.86782	0.655000	0.94253	CAG		0.552	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			16	12	0	0	0	1	0	16	12				
HIVEP1	3096	broad.mit.edu	37	6	12120714	12120714	+	Missense_Mutation	SNP	C	C	A	rs576398470		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120714C>A	ENST00000379388.2	+	4	1018	c.686C>A	c.(685-687)aCt>aAt	p.T229N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	229					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAAATAAAACTGCACGTTCC	0.428																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(685-687)aCt>aAt		human immunodeficiency virus type I enhancer binding protein 1							111.0	101.0	104.0					6																	12120714		1896	4130	6026	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120714C>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.686C>A	6.37:g.12120714C>A	ENSP00000368698:p.Thr229Asn						p.T229N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1018	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	229					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.686C>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803375	0.50315	.	.	ENSG00000095951	ENST00000379388	T	0.09817	2.94	5.69	2.51	0.30379	.	0.209143	0.24180	N	0.040802	T	0.06096	0.0158	M	0.67953	2.075	0.35864	D	0.8277	P	0.45902	0.868	B	0.39876	0.312	T	0.22347	-1.0219	9	.	.	.	-25.3885	11.0191	0.47707	0.0:0.6793:0.2465:0.0741	.	229	P15822	ZEP1_HUMAN	N	229	ENSP00000368698:T229N	.	T	+	2	0	HIVEP1	12228700	1.000000	0.71417	0.821000	0.32701	0.708000	0.40852	1.538000	0.36094	1.366000	0.46076	0.655000	0.94253	ACT		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		10	104	1	0	0.00621372	1	0.00652201	10	104				
WDR88	126248	broad.mit.edu	37	19	33666397	33666397	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33666397C>T	ENST00000355868.3	+	11	1414	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	WDR88_ENST00000361680.2_3'UTR|AC008738.2_ENST00000577275.1_RNA|CTD-2540B15.10_ENST00000590117.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	446										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATACAAGGGGCTTGCCAGCAG	0.517																																						ENST00000355868.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1336-1338)ggC>ggT		WD repeat domain 88							151.0	140.0	144.0					19																	33666397		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33666397C>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1338C>T	19.37:g.33666397C>T						WDR88_ENST00000361680.2_3'UTR	p.G446G	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN			11	1414	+	Esophageal squamous(110;0.137)		446					Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.1338C>T	CCDS12429.1																																																																																				0.517	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		51	45	0	0	0	1	0	51	45				
CKAP5	9793	broad.mit.edu	37	11	46812059	46812059	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46812059T>A	ENST00000529230.1	-	14	1771	c.1725A>T	c.(1723-1725)aaA>aaT	p.K575N	CKAP5_ENST00000354558.3_Missense_Mutation_p.K575N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K575N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K575N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	575					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCCAGTCCTTTCTTGTTCT	0.443																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1723-1725)aaA>aaT		cytoskeleton associated protein 5							159.0	141.0	147.0					11																	46812059		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46812059T>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1725A>T	11.37:g.46812059T>A	ENSP00000432768:p.Lys575Asn					CKAP5_ENST00000354558.3_Missense_Mutation_p.K575N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K575N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K575N	p.K575N			Q14008	CKAP5_HUMAN			14	1771	-			575					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.1725A>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.017220	0.54576	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.48201	0.82;0.83;0.83;0.83	5.96	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.77103	2.36	0.48135	D	0.999599	D;D;B	0.76494	0.999;0.999;0.155	D;D;B	0.80764	0.994;0.994;0.06	T	0.62296	-0.6884	10	0.21014	T	0.42	-6.9064	8.4107	0.32642	0.0:0.1626:0.0:0.8374	.	575;575;575	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	N	575	ENSP00000432768:K575N;ENSP00000395302:K575N;ENSP00000310227:K575N;ENSP00000346566:K575N	ENSP00000310227:K575N	K	-	3	2	CKAP5	46768635	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	2.574000	0.46016	1.084000	0.41184	0.454000	0.30748	AAA		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		28	52	0	0	0	1	0	28	52				
ZBTB5	9925	broad.mit.edu	37	9	37442057	37442057	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37442057G>A	ENST00000307750.4	-	2	680	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GCTGCTCCTCGCCATTCTGGC	0.602																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(490-492)ggC>ggT		zinc finger and BTB domain containing 5							51.0	51.0	51.0					9																	37442057		2203	4298	6501	SO:0001819	synonymous_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37442057G>A	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.492C>T	9.37:g.37442057G>A							p.G164G	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	680	-			164						Silent	SNP	ENST00000307750.4	37	c.492C>T	CCDS6610.1																																																																																				0.602	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		22	45	0	0	0	1	0	22	45				
ICA1	3382	broad.mit.edu	37	7	8167563	8167563	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167563C>A	ENST00000402384.3	-	13	1536	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	ICA1_ENST00000401396.1_Missense_Mutation_p.G412C|ICA1_ENST00000265577.7_Missense_Mutation_p.G423C|ICA1_ENST00000422063.2_Missense_Mutation_p.G453C|ICA1_ENST00000396675.3_Missense_Mutation_p.G424C|ICA1_ENST00000406470.2_Missense_Mutation_p.G424C			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	424					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGAAGGAAACCTGAGCCTGTC	0.527																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(1270-1272)Ggt>Tgt		islet cell autoantigen 1, 69kDa							139.0	153.0	149.0					7																	8167563		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8167563C>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1270G>T	7.37:g.8167563C>A	ENSP00000385570:p.Gly424Cys					ICA1_ENST00000265577.7_Missense_Mutation_p.G423C|ICA1_ENST00000401396.1_Missense_Mutation_p.G412C|ICA1_ENST00000406470.2_Missense_Mutation_p.G424C|ICA1_ENST00000422063.2_Missense_Mutation_p.G453C|ICA1_ENST00000396675.3_Missense_Mutation_p.G424C	p.G424C			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	13	1536	-		Ovarian(82;0.0612)	424					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.1270G>T	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458001	0.26161	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.11	-0.00657	0.14012	Islet cell autoantigen Ica1, C-terminal (1);	0.667620	0.14614	N	0.308832	T	0.47911	0.1471	L	0.58101	1.795	0.09310	N	1	D;D;P;P	0.61080	0.989;0.973;0.942;0.95	D;P;P;P	0.62955	0.909;0.8;0.721;0.833	T	0.32455	-0.9906	9	0.52906	T	0.07	-1.4979	1.9468	0.03358	0.2325:0.4477:0.1135:0.2063	.	453;423;424;412	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	C	424;424;423;424;412;453	.	ENSP00000265577:G423C	G	-	1	0	ICA1	8134088	0.540000	0.26410	0.001000	0.08648	0.035000	0.12851	1.408000	0.34668	0.089000	0.17243	-0.229000	0.12294	GGT		0.527	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		59	154	1	0	5.73376e-24	1	7.59946e-24	59	154				
SLC2A11	66035	broad.mit.edu	37	22	24220040	24220040	+	Silent	SNP	C	C	T	rs145179201	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24220040C>T	ENST00000345044.6	+	6	937	c.669C>T	c.(667-669)acC>acT	p.T223T	AP000350.10_ENST00000433835.3_Intron|RN7SL268P_ENST00000491172.2_RNA|SLC2A11_ENST00000398356.2_Silent_p.T230T|SLC2A11_ENST00000316185.8_Silent_p.T226T|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	223					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTGGAGACACCGAGGCCTGCC	0.637																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(667-669)acC>acT		solute carrier family 2 (facilitated glucose transporter), member 11		C	,,	0,4406		0,0,2203	36.0	26.0	30.0		669,678,690	-7.0	0.0	22	dbSNP_134	30	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC2A11	NM_001024938.2,NM_001024939.2,NM_030807.3	,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,	223/497,226/500,230/504	24220040	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24220040C>T	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.669C>T	22.37:g.24220040C>T						SLC2A11_ENST00000316185.8_Silent_p.T226T|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000398356.2_Silent_p.T230T|SLC2A11_ENST00000467660.1_3'UTR	p.T223T			Q9BYW1	GTR11_HUMAN			6	937	+			223					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.669C>T	CCDS46673.1																																																																																				0.637	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		3	11	0	0	0	1	0	3	11				
NOTCH1	4851	broad.mit.edu	37	9	139391863	139391863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139391863C>T	ENST00000277541.6	-	34	6403	c.6328G>A	c.(6328-6330)Gtg>Atg	p.V2110M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2110					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCAGCCTCACGATGTCGTGA	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6328-6330)Gtg>Atg		notch 1							38.0	40.0	40.0					9																	139391863		2171	4266	6437	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391863C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6328G>A	9.37:g.139391863C>T	ENSP00000277541:p.Val2110Met	HNSCC(8;0.001)					p.V2110M	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6403	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2110					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6328G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187294	0.78789	.	.	ENSG00000148400	ENST00000277541	T	0.57436	0.4	5.42	5.42	0.78866	Ankyrin repeat-containing domain (3);	0.141231	0.47852	D	0.000214	T	0.76343	0.3974	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.79964	-0.1581	10	0.87932	D	0	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2110	P46531	NOTC1_HUMAN	M	2110	ENSP00000277541:V2110M	ENSP00000277541:V2110M	V	-	1	0	NOTCH1	138511684	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.613000	0.82986	2.703000	0.92315	0.561000	0.74099	GTG		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	40	0	0	0	1	0	8	40				
DCHS1	8642	broad.mit.edu	37	11	6644437	6644437	+	Missense_Mutation	SNP	C	C	T	rs568029252		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6644437C>T	ENST00000299441.3	-	21	8881	c.8470G>A	c.(8470-8472)Gaa>Aaa	p.E2824K	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2824	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCACCTTCGGGCACTTGG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18007	0.001		0.0	False		,,,				2504	0.0					ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(8470-8472)Gaa>Aaa		dachsous cadherin-related 1							27.0	26.0	26.0					11																	6644437		2201	4293	6494	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644437C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8470G>A	11.37:g.6644437C>T	ENSP00000299441:p.Glu2824Lys						p.E2824K	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8881	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2824			Cadherin 27.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8470G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193826	0.78902	.	.	ENSG00000166341	ENST00000299441	T	0.67698	-0.28	4.97	4.97	0.65823	Cadherin (2);Cadherin-like (1);	0.000000	0.40385	N	0.001119	D	0.84884	0.5571	H	0.95539	3.685	0.80722	D	1	D	0.76494	0.999	P	0.58130	0.833	D	0.89229	0.3576	10	0.59425	D	0.04	.	16.9706	0.86298	0.0:1.0:0.0:0.0	.	2824	Q96JQ0	PCD16_HUMAN	K	2824	ENSP00000299441:E2824K	ENSP00000299441:E2824K	E	-	1	0	DCHS1	6601013	1.000000	0.71417	0.988000	0.46212	0.872000	0.50106	5.891000	0.69782	2.587000	0.87381	0.655000	0.94253	GAA		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	7	0	0	0	1	0	4	7				
PHGDH	26227	broad.mit.edu	37	1	120263907	120263907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120263907C>A	ENST00000369409.4	+	2	389	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	PHGDH_ENST00000369407.3_Missense_Mutation_p.L51M	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	85					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CAATGTGGATCTGGAGGCCGC	0.582																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(151-153)Ctg>Atg		phosphoglycerate dehydrogenase	NADH(DB00157)						130.0	115.0	120.0					1																	120263907		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120263907C>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.253C>A	1.37:g.120263907C>A	ENSP00000358417:p.Leu85Met					PHGDH_ENST00000369409.4_Missense_Mutation_p.L85M	p.L51M			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	1	1658	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	85					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.151C>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746025	0.49151	.	.	ENSG00000092621	ENST00000369409;ENST00000369407	D;D	0.86627	-2.15;-2.15	5.92	2.63	0.31362	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.061485	0.64402	D	0.000007	T	0.77665	0.4164	M	0.72624	2.21	0.35039	D	0.759554	P;P	0.35575	0.51;0.51	B;B	0.37943	0.261;0.261	T	0.76255	-0.3026	10	0.62326	D	0.03	-8.3145	6.2726	0.20963	0.0:0.5459:0.2122:0.2419	.	51;85	Q5SZU1;O43175	.;SERA_HUMAN	M	85;51	ENSP00000358417:L85M;ENSP00000358415:L51M	ENSP00000358415:L51M	L	+	1	2	PHGDH	120065430	0.996000	0.38824	0.958000	0.39756	0.736000	0.42039	2.625000	0.46452	0.859000	0.35456	0.561000	0.74099	CTG		0.582	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		37	58	1	0	1.69901e-12	1	2.13862e-12	37	58				
ABCA2	20	broad.mit.edu	37	9	139911711	139911711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139911711C>T	ENST00000371605.3	-	17	2634	c.2487G>A	c.(2485-2487)atG>atA	p.M829I	ABCA2_ENST00000341511.6_Missense_Mutation_p.M830I|ABCA2_ENST00000265662.5_Missense_Mutation_p.M830I|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	829					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCGCCACGTACATGTAGGGCA	0.647																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2488-2490)atG>atA		ATP-binding cassette, sub-family A (ABC1), member 2							51.0	56.0	54.0					9																	139911711		2191	4269	6460	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139911711C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2487G>A	9.37:g.139911711C>T	ENSP00000360666:p.Met829Ile					ABCA2_ENST00000341511.6_Missense_Mutation_p.M830I|ABCA2_ENST00000371605.3_Missense_Mutation_p.M829I	p.M830I			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	18	2637	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	829					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2490G>A		.	.	.	.	.	.	.	.	.	.	C	9.745	1.166003	0.21538	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	T;T;T	0.80653	-1.4;-1.4;-1.4	4.61	4.61	0.57282	.	0.000000	0.85682	U	0.000000	T	0.65974	0.2743	N	0.05050	-0.12	0.80722	D	1	B;B	0.27416	0.145;0.178	B;B	0.36186	0.219;0.138	T	0.62407	-0.6861	10	0.07990	T	0.79	.	17.4162	0.87500	0.0:1.0:0.0:0.0	.	829;860	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	I	830;829;860;830	ENSP00000265662:M830I;ENSP00000360666:M829I;ENSP00000344155:M830I	ENSP00000265662:M830I	M	-	3	0	ABCA2	139031532	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	5.736000	0.68597	2.116000	0.64780	0.313000	0.20887	ATG		0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	56	0	0	0	1	0	5	56				
ATG4D	84971	broad.mit.edu	37	19	10662938	10662938	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10662938A>G	ENST00000309469.4	+	9	1353	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.T61A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	394					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAAGCTGTACCGTGGGCTT	0.612																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(1180-1182)Acc>Gcc		autophagy related 4D, cysteine peptidase							76.0	68.0	71.0					19																	10662938		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10662938A>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1180A>G	19.37:g.10662938A>G	ENSP00000311318:p.Thr394Ala					ATG4D_ENST00000540862.1_Missense_Mutation_p.T61A	p.T394A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		9	1353	+			394					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1180A>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706294	0.89018	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	T	0.38722	1.12	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	N	0.14661	0.345	0.80722	D	1	P;P	0.44946	0.756;0.846	P;P	0.47786	0.456;0.557	T	0.09796	-1.0658	10	0.02654	T	1	-13.0213	14.4601	0.67442	1.0:0.0:0.0:0.0	.	331;394	B4DGM8;Q86TL0	.;ATG4D_HUMAN	A	394;61	ENSP00000311318:T394A	ENSP00000311318:T394A	T	+	1	0	ATG4D	10523938	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	8.904000	0.92590	2.128000	0.65567	0.459000	0.35465	ACC		0.612	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		11	23	0	0	0	1	0	11	23				
MYLIP	29116	broad.mit.edu	37	6	16145386	16145386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145386C>T	ENST00000356840.3	+	6	1284	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	MYLIP_ENST00000349606.4_Silent_p.S181S	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	362					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACTGCAGCAGCTGCGAGGGCC	0.572																																						ENST00000349606.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(541-543)agC>agT		myosin regulatory light chain interacting protein							73.0	75.0	74.0					6																	16145386		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145386C>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1086C>T	6.37:g.16145386C>T						MYLIP_ENST00000356840.3_Silent_p.S362S	p.S181S			Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	1047	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	362			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.543C>T	CCDS4536.1																																																																																				0.572	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		7	103	0	0	0	1	0	7	103				
LRRC31	79782	broad.mit.edu	37	3	169574503	169574503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574503C>T	ENST00000316428.5	-	4	702	c.645G>A	c.(643-645)ggG>ggA	p.G215G	LRRC31_ENST00000264676.5_Silent_p.G159G|LRRC31_ENST00000523069.1_Silent_p.G215G|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	215										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCAGAAATGTCCCATCTTCTG	0.403																																						ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(643-645)ggG>ggA		leucine rich repeat containing 31							66.0	61.0	62.0					3																	169574503		1830	4080	5910	SO:0001819	synonymous_variant	79782							g.chr3:169574503C>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.645G>A	3.37:g.169574503C>T						LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.G159G|LRRC31_ENST00000523069.1_Silent_p.G215G	p.G215G	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		4	702	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		215					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Silent	SNP	ENST00000316428.5	37	c.645G>A	CCDS43167.1																																																																																				0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		16	35	0	0	0	1	0	16	35				
ZNF761	388561	broad.mit.edu	37	19	53959722	53959722	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959722G>T	ENST00000454407.1	+	0	2414							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACATAGGAGAATTCATACT	0.398																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							80.0	86.0	84.0					19																	53959722		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959722G>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959722G>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2414	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.398	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		6	74	1	0	1.12685e-05	1	1.27857e-05	6	74				
SLC25A40	55972	broad.mit.edu	37	7	87476301	87476301	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476301G>A	ENST00000341119.5	-	8	940	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	198					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TAGGAGCCCAGCCCCTCCAAA	0.388																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.(592-594)ggC>ggT		solute carrier family 25, member 40							107.0	115.0	112.0					7																	87476301		2203	4300	6503	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87476301G>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.594C>T	7.37:g.87476301G>A							p.G198G	NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN			8	940	-	Esophageal squamous(14;0.00202)		198					A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.594C>T	CCDS5610.1																																																																																				0.388	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		98	94	0	0	0	1	0	98	94				
ITPR2	3709	broad.mit.edu	37	12	26493197	26493197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26493197C>T	ENST00000381340.3	-	56	8338	c.7922G>A	c.(7921-7923)aGt>aAt	p.S2641N	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2641					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATTTTGCTCACTGTCGCCTTC	0.493																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7921-7923)aGt>aAt		inositol 1,4,5-trisphosphate receptor, type 2							69.0	68.0	68.0					12																	26493197		1981	4206	6187	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26493197C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7922G>A	12.37:g.26493197C>T	ENSP00000370744:p.Ser2641Asn					RP11-513G19.1_ENST00000535324.1_RNA	p.S2641N	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			56	8338	-	Colorectal(261;0.0847)		2641					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7922G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157328	0.57259	.	.	ENSG00000123104	ENST00000381340	T	0.42900	0.96	5.58	4.69	0.59074	.	0.108914	0.64402	N	0.000006	T	0.25158	0.0611	N	0.10916	0.065	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04900	-1.0919	10	0.49607	T	0.09	.	11.842	0.52359	0.0:0.8595:0.0:0.1405	.	2641	Q14571	ITPR2_HUMAN	N	2641	ENSP00000370744:S2641N	ENSP00000370744:S2641N	S	-	2	0	ITPR2	26384464	0.913000	0.31002	1.000000	0.80357	0.988000	0.76386	1.869000	0.39519	1.500000	0.48636	0.655000	0.94253	AGT		0.493	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	38	0	0	0	1	0	4	38				
CALCOCO1	57658	broad.mit.edu	37	12	54115881	54115881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54115881G>A	ENST00000550804.1	-	5	597	c.537C>T	c.(535-537)agC>agT	p.S179S	CALCOCO1_ENST00000548263.1_Silent_p.S179S|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Silent_p.S146S|CALCOCO1_ENST00000262059.4_Silent_p.S179S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	179	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGCACTCGGCTCCTCAGCT	0.602																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(535-537)agC>agT		calcium binding and coiled-coil domain 1							111.0	101.0	104.0					12																	54115881		2203	4300	6503	SO:0001819	synonymous_variant	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115881G>A	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.537C>T	12.37:g.54115881G>A						CALCOCO1_ENST00000262059.4_Silent_p.S179S|CALCOCO1_ENST00000430117.2_Silent_p.S146S|CALCOCO1_ENST00000550804.1_Silent_p.S179S	p.S179S			Q9P1Z2	CACO1_HUMAN			5	585	-			179			N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	c.537C>T	CCDS8864.1																																																																																				0.602	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		7	61	0	0	0	1	0	7	61				
CSF3R	1441	broad.mit.edu	37	1	36932899	36932899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36932899G>T	ENST00000373106.1	-	16	2519	c.1972C>A	c.(1972-1974)Ctc>Atc	p.L658I	CSF3R_ENST00000440588.2_Missense_Mutation_p.L658I|CSF3R_ENST00000418048.2_Missense_Mutation_p.L658I|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000373103.1_Missense_Mutation_p.L658I|CSF3R_ENST00000331941.5_Missense_Mutation_p.L658I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.L658I|CSF3R_ENST00000338937.5_Silent_p.P626P|CSF3R_ENST00000373104.1_Missense_Mutation_p.L658I	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	658					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTGGCCAGAGGGGATTCTTC	0.587																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1972-1974)Ctc>Atc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						95.0	104.0	101.0					1																	36932899		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36932899G>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1972C>A	1.37:g.36932899G>T	ENSP00000362198:p.Leu658Ile					CSF3R_ENST00000331941.5_Missense_Mutation_p.L658I|CSF3R_ENST00000361632.4_Missense_Mutation_p.L658I|CSF3R_ENST00000373104.1_Missense_Mutation_p.L658I|CSF3R_ENST00000338937.5_Silent_p.P626P|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.L658I|CSF3R_ENST00000373106.1_Missense_Mutation_p.L658I|CSF3R_ENST00000440588.2_Missense_Mutation_p.L658I	p.L658I	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			16	2519	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	658						Missense_Mutation	SNP	ENST00000373106.1	37	c.1972C>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164462	0.57476	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588	T;T;T;T;T;T;T	0.51574	0.81;0.7;0.71;0.81;0.7;0.81;0.71	5.41	1.99	0.26369	.	0.562492	0.19831	N	0.105097	T	0.38904	0.1058	L	0.50333	1.59	0.58432	D	0.999999	P;P;P;P	0.52316	0.799;0.952;0.799;0.818	B;B;B;B	0.43916	0.162;0.436;0.162;0.322	T	0.17349	-1.0372	10	0.15952	T	0.53	-20.4808	9.1802	0.37136	0.3526:0.0:0.6474:0.0	.	658;658;658;658	Q1ZYL6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	I	658	ENSP00000362198:L658I;ENSP00000362196:L658I;ENSP00000362195:L658I;ENSP00000355406:L658I;ENSP00000332180:L658I;ENSP00000401588:L658I;ENSP00000397568:L658I	ENSP00000332180:L658I	L	-	1	0	CSF3R	36705486	0.989000	0.36119	0.937000	0.37676	0.929000	0.56500	0.904000	0.28491	0.646000	0.30693	0.655000	0.94253	CTC		0.587	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		7	139	1	0	5.18039e-06	1	5.91835e-06	7	139				
KCTD3	51133	broad.mit.edu	37	1	215793456	215793456	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215793456G>A	ENST00000259154.4	+	18	2238	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	648					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTTCCATGAGGCCTTACAGAG	0.403																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1942-1944)agG>agA		potassium channel tetramerization domain containing 3							68.0	72.0	70.0					1																	215793456		2203	4299	6502	SO:0001819	synonymous_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793456G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1944G>A	1.37:g.215793456G>A						KCTD3_ENST00000495537.1_3'UTR	p.R648R	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2238	+			648					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	ENST00000259154.4	37	c.1944G>A	CCDS1515.1																																																																																				0.403	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		26	31	0	0	0	1	0	26	31				
HOXC9	3225	broad.mit.edu	37	12	54396215	54396215	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54396215C>T	ENST00000303450.4	+	2	610	c.540C>T	c.(538-540)agC>agT	p.S180S	HOXC9_ENST00000508190.1_Splice_Site_p.S180S|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA|HOXC9_ENST00000504557.1_3'UTR|HOXC-AS1_ENST00000505700.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	180					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GCCCTCCAGGCAACCCCGTGG	0.582																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.e2-1		homeobox C9							68.0	75.0	72.0					12																	54396215		2203	4300	6503	SO:0001630	splice_region_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396215C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.539-1C>T	12.37:g.54396215C>T						HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Splice_Site_p.S180_splice	p.S180_splice	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			2	610	+			180					B2RCN7|Q9H1I0	Splice_Site	SNP	ENST00000303450.4	37	c.538_splice	CCDS8869.1																																																																																				0.582	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1		Silent	27	58	0	0	0	1	0	27	58				
PARP3	10039	broad.mit.edu	37	3	51979069	51979069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51979069C>T	ENST00000417220.2	+	7	1178	c.690C>T	c.(688-690)ttC>ttT	p.F230F	PARP3_ENST00000398755.3_Silent_p.F237F|PARP3_ENST00000431474.1_Silent_p.F230F			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	230	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACGGGGTTTCGAGGCCTTGG	0.617																																						ENST00000417220.2																			0				ovary(1)	1						c.(688-690)ttC>ttT		poly (ADP-ribose) polymerase family, member 3							53.0	62.0	59.0					3																	51979069		2004	4171	6175	SO:0001819	synonymous_variant	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51979069C>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.690C>T	3.37:g.51979069C>T						PARP3_ENST00000431474.1_Silent_p.F230F|PARP3_ENST00000398755.3_Silent_p.F237F	p.F230F			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	1178	+			230			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Silent	SNP	ENST00000417220.2	37	c.690C>T	CCDS43097.1																																																																																				0.617	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		21	57	0	0	0	1	0	21	57				
CHD2	1106	broad.mit.edu	37	15	93540498	93540498	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93540498T>G	ENST00000394196.4	+	30	4818	c.3750T>G	c.(3748-3750)tgT>tgG	p.C1250W	CHD2_ENST00000557381.1_Missense_Mutation_p.C1250W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1250					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTTAACCTGTCGTGTCAAAG	0.403																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3748-3750)tgT>tgG		chromodomain helicase DNA binding protein 2							125.0	123.0	124.0					15																	93540498		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540498T>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3750T>G	15.37:g.93540498T>G	ENSP00000377747:p.Cys1250Trp					CHD2_ENST00000557381.1_Missense_Mutation_p.C1250W	p.C1250W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		30	4818	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1250					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3750T>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103457	0.56291	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.89810	-2.57;-2.57	5.1	-5.61	0.02489	.	0.000000	0.37304	U	0.002152	D	0.91405	0.7288	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.975	D;P	0.77557	0.99;0.887	D	0.89371	0.3675	10	0.38643	T	0.18	-19.5474	17.1682	0.86821	0.0:0.7378:0.0:0.2622	.	1250;1250	O14647;O14647-2	CHD2_HUMAN;.	W	1250	ENSP00000377747:C1250W;ENSP00000451366:C1250W	ENSP00000377747:C1250W	C	+	3	2	CHD2	91341502	0.751000	0.28327	0.459000	0.27081	0.992000	0.81027	-0.127000	0.10547	-0.918000	0.03808	0.528000	0.53228	TGT		0.403	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	84	0	0	0	1	0	4	84				
DUSP16	80824	broad.mit.edu	37	12	12630736	12630736	+	Missense_Mutation	SNP	G	G	T	rs144222400	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630736G>T	ENST00000228862.2	-	7	1660	c.1029C>A	c.(1027-1029)gaC>gaA	p.D343E	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	343					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		AGGTAGCAGAGTCGGCACAGG	0.632																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1027-1029)gaC>gaA		dual specificity phosphatase 16							41.0	40.0	40.0					12																	12630736		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630736G>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1029C>A	12.37:g.12630736G>T	ENSP00000228862:p.Asp343Glu					DUSP16_ENST00000298573.4_3'UTR	p.D343E	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1660	-		Prostate(47;0.0687)	343					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1029C>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	0.179	-1.063862	0.01934	.	.	ENSG00000111266	ENST00000228862	T	0.01838	4.61	5.58	3.76	0.43208	.	2.535450	0.00909	N	0.002459	T	0.01558	0.0050	N	0.08118	0	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46884	-0.9159	10	0.02654	T	1	.	6.1893	0.20516	0.1654:0.1525:0.6821:0.0	.	343;343	Q9BY84;Q96N49	DUS16_HUMAN;.	E	343	ENSP00000228862:D343E	ENSP00000228862:D343E	D	-	3	2	DUSP16	12522003	0.005000	0.15991	0.032000	0.17829	0.799000	0.45148	0.730000	0.26043	0.720000	0.32209	0.563000	0.77884	GAC		0.632	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		4	43	1	0	0.00024832	1	0.0002712	4	43				
PRR23C	389152	broad.mit.edu	37	3	138763115	138763115	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138763115G>A	ENST00000413199.1	-	1	619	c.348C>T	c.(346-348)ggC>ggT	p.G116G	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.G116G	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	116										breast(2)|lung(7)|skin(2)	11						CAGACCAGTCGCCCTGCGCTC	0.632																																						ENST00000413199.1																			0				breast(2)|lung(7)|skin(2)	11						c.(346-348)ggC>ggT		proline rich 23C							32.0	33.0	33.0					3																	138763115		692	1591	2283	SO:0001819	synonymous_variant	389152							g.chr3:138763115G>A		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.348C>T	3.37:g.138763115G>A						MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.G116G	p.G116G	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN			1	619	-			116						Silent	SNP	ENST00000413199.1	37	c.348C>T	CCDS46924.1																																																																																				0.632	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		4	5	0	0	0	1	0	4	5				
PPP1R7	5510	broad.mit.edu	37	2	242097264	242097264	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242097264A>T	ENST00000234038.6	+	3	698	c.224A>T	c.(223-225)gAc>gTc	p.D75V	PPP1R7_ENST00000406106.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.D16V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.D75V|PPP1R7_ENST00000401987.1_Missense_Mutation_p.D32V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.D32V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.D75V	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	75					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ATCAACCTGGACAGAGATGCA	0.473																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(223-225)gAc>gTc		protein phosphatase 1, regulatory subunit 7							87.0	76.0	80.0					2																	242097264		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242097264A>T	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.224A>T	2.37:g.242097264A>T	ENSP00000234038:p.Asp75Val					PPP1R7_ENST00000404405.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.D16V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.D75V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.D32V|PPP1R7_ENST00000401987.1_Missense_Mutation_p.D32V	p.D75V	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	3	698	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	75					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.224A>T	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.517091|4.517091	0.85495|0.85495	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987;ENST00000427172|ENST00000450367	T;T;T;T;T;T;T;T;T;T;T|.	0.51325|.	0.83;0.89;1.01;0.71;0.8;0.71;0.83;0.94;1.02;0.88;1.25|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78972|0.78972	0.4368|0.4368	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;0.98;0.998;1.0;1.0;0.999|.	D;P;D;D;D;D|.	0.71656|.	0.946;0.601;0.962;0.974;0.931;0.942|.	T|T	0.82147|0.82147	-0.0601|-0.0601	10|5	0.26408|.	T|.	0.33|.	-34.3345|-34.3345	13.8192|13.8192	0.63309|0.63309	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	59;16;32;75;75;75|.	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8|.	.;.;.;PP1R7_HUMAN;.;.|.	V|S	59;16;16;75;32;75;75;75;75;32;84|56	ENSP00000396376:D59V;ENSP00000385012:D16V;ENSP00000412092:D16V;ENSP00000385657:D75V;ENSP00000272983:D32V;ENSP00000234038:D75V;ENSP00000385498:D75V;ENSP00000409719:D75V;ENSP00000385022:D75V;ENSP00000385466:D32V;ENSP00000397985:D84V|.	ENSP00000234038:D75V|.	D|T	+|+	2|1	0|0	PPP1R7|PPP1R7	241745937|241745937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.841000|7.841000	0.86834|0.86834	2.015000|2.015000	0.59207|0.59207	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.473	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		9	13	0	0	0	1	0	9	13				
MPPED2	744	broad.mit.edu	37	11	30557550	30557550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30557550C>A	ENST00000358117.5	-	2	423	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	MPPED2_ENST00000448418.2_Missense_Mutation_p.D101Y	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	101					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CCTAACCAGTCATTAAACTTC	0.498																																						ENST00000448418.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						c.(301-303)Gac>Tac		metallophosphoesterase domain containing 2							88.0	75.0	79.0					11																	30557550		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30557550C>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.301G>T	11.37:g.30557550C>A	ENSP00000350833:p.Asp101Tyr					MPPED2_ENST00000358117.5_Missense_Mutation_p.D101Y	p.D101Y	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN			3	661	-			101					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.301G>T	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042139	0.75732	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.45276	0.9;0.9	5.76	5.76	0.90799	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	L	0.52206	1.635	0.80722	D	1	D;P	0.69078	0.997;0.956	P;P	0.57548	0.823;0.52	T	0.56347	-0.7994	10	0.72032	D	0.01	-17.4869	20.3242	0.98691	0.0:1.0:0.0:0.0	.	101;101	Q15777;E9PB10	MPPD2_HUMAN;.	Y	101	ENSP00000388258:D101Y;ENSP00000350833:D101Y	ENSP00000350833:D101Y	D	-	1	0	MPPED2	30514126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	GAC		0.498	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		7	27	1	0	0.000157383	1	0.00017284	7	27				
ATP7B	540	broad.mit.edu	37	13	52544631	52544631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52544631C>T	ENST00000242839.4	-	3	1696	c.1540G>A	c.(1540-1542)Gct>Act	p.A514T	ATP7B_ENST00000344297.5_Missense_Mutation_p.A514T|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.A514T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A403T|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Missense_Mutation_p.A482T|ATP7B_ENST00000418097.2_Missense_Mutation_p.A514T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	514	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTCTTACCAGCTTCTTTCTGC	0.463									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(1540-1542)Gct>Act		ATPase, Cu++ transporting, beta polypeptide							176.0	171.0	173.0					13																	52544631		1997	4169	6166	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52544631C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1540G>A	13.37:g.52544631C>T	ENSP00000242839:p.Ala514Thr					ATP7B_ENST00000344297.5_Missense_Mutation_p.A514T|ATP7B_ENST00000418097.2_Missense_Mutation_p.A514T|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Missense_Mutation_p.A482T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A403T|ATP7B_ENST00000448424.2_Missense_Mutation_p.A514T|ATP7B_ENST00000400370.3_Intron	p.A514T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	3	1696	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	514			HMA 5.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1540G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488786	0.26686	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097;ENST00000542656	D;D;D;D;D;D	0.85861	-2.02;-2.02;-2.02;-2.02;-2.02;-2.04	5.46	4.61	0.57282	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.822747	0.11590	N	0.548862	D	0.85366	0.5680	N	0.20881	0.62	0.20403	N	0.999908	D;B;B;B;B;P;B	0.56287	0.975;0.446;0.098;0.145;0.282;0.948;0.009	P;B;B;B;B;P;B	0.58266	0.836;0.114;0.01;0.026;0.047;0.567;0.006	T	0.76088	-0.3087	10	0.22109	T	0.4	.	16.264	0.82565	0.0:0.8671:0.1329:0.0	.	482;514;514;514;403;514;514	F6XIH0;E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	T	514;403;514;514;514;482	ENSP00000242839:A514T;ENSP00000383217:A403T;ENSP00000342559:A514T;ENSP00000416738:A514T;ENSP00000393343:A514T;ENSP00000443128:A482T	ENSP00000242839:A514T	A	-	1	0	ATP7B	51442632	0.944000	0.32072	0.926000	0.36857	0.679000	0.39708	1.316000	0.33620	1.286000	0.44565	0.650000	0.86243	GCT		0.463	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		11	116	0	0	0	1	0	11	116				
PCDHA11	56138	broad.mit.edu	37	5	140249195	140249195	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249195C>A	ENST00000398640.2	+	1	507	c.507C>A	c.(505-507)acC>acA	p.T169T	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTATTGACCTACAGGCTAA	0.388																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(505-507)acC>acA									104.0	118.0	113.0					5																	140249195		2160	4285	6445	SO:0001819	synonymous_variant	0							g.chr5:140249195C>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.507C>A	5.37:g.140249195C>A						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.T169T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	507	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.507C>A	CCDS47284.1																																																																																				0.388	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		14	134	1	0	6.31663e-08	1	7.49729e-08	14	134				
ACKR3	57007	broad.mit.edu	37	2	237489831	237489831	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237489831G>A	ENST00000272928.3	+	2	1033	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	241					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.A241A(1)									CCATCTCGGCGTCCAGTGACC	0.592																																						ENST00000272928.3																			1	Substitution - coding silent(1)	p.A241A(1)	large_intestine(1)								c.(721-723)gcG>gcA		atypical chemokine receptor 3							100.0	84.0	89.0					2																	237489831		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489831G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.723G>A	2.37:g.237489831G>A							p.A241A	NM_020311.2	NP_064707.1					2	1033	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.723G>A	CCDS2516.1																																																																																				0.592	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		29	40	0	0	0	1	0	29	40				
DDI2	84301	broad.mit.edu	37	1	15964861	15964861	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15964861G>T	ENST00000480945.1	+	5	863	c.692G>T	c.(691-693)gGc>gTc	p.G231V		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	231							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAAAGTTTTGGCCAAGTAGTG	0.418																																						ENST00000480945.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17						c.(691-693)gGc>gTc		DNA-damage inducible 1 homolog 2 (S. cerevisiae)							218.0	216.0	216.0					1																	15964861		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15964861G>T		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.692G>T	1.37:g.15964861G>T	ENSP00000417748:p.Gly231Val						p.G231V	NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	5	863	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	231					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.692G>T	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883339	0.91740	.	.	ENSG00000197312	ENST00000480945	T	0.38887	1.11	5.58	5.58	0.84498	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	U	0.000000	T	0.64549	0.2608	M	0.72118	2.19	0.80722	D	1	D	0.61080	0.989	D	0.65874	0.939	T	0.64888	-0.6301	10	0.54805	T	0.06	-25.9028	19.19	0.93663	0.0:0.0:1.0:0.0	.	231	Q5TDH0	DDI2_HUMAN	V	231	ENSP00000417748:G231V	ENSP00000417748:G231V	G	+	2	0	DDI2	15837448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.636000	0.89361	0.460000	0.39030	GGC		0.418	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		78	116	1	0	4.03997e-35	1	5.43481e-35	78	116				
ZC3H12B	340554	broad.mit.edu	37	X	64708943	64708943	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64708943C>T	ENST00000338957.4	+	1	329	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	88							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTAGATCGTCCAAGTTT	0.502													C|||	1	0.000264901	0.0	0.0	3775	,	,		17309	0.0		0.0	False		,,,				2504	0.001					ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(262-264)Cgt>Tgt		zinc finger CCCH-type containing 12B							84.0	89.0	87.0					X																	64708943		2017	4163	6180	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64708943C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.262C>T	X.37:g.64708943C>T	ENSP00000340839:p.Arg88Cys					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77C	p.R88C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			1	329	+			77					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.262C>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120259	0.37436	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26810	1.72;1.71	5.36	2.68	0.31781	.	0.546453	0.19957	N	0.102286	T	0.20292	0.0488	L	0.39898	1.24	0.58432	D	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.03706	-1.1011	10	0.54805	T	0.06	-12.8729	9.0274	0.36239	0.0:0.7523:0.0:0.2477	.	77	Q5HYM0	ZC12B_HUMAN	C	88;77;77	ENSP00000340839:R88C;ENSP00000408077:R77C	ENSP00000218172:R77C	R	+	1	0	ZC3H12B	64625668	1.000000	0.71417	0.369000	0.25952	0.909000	0.53808	4.286000	0.58995	0.255000	0.21593	0.506000	0.49869	CGT		0.502	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		30	57	0	0	0	1	0	30	57				
PHIP	55023	broad.mit.edu	37	6	79700587	79700587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79700587T>C	ENST00000275034.4	-	20	2484	c.2317A>G	c.(2317-2319)Aag>Gag	p.K773E		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	773					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATATGTACCTTTGAGACAGTG	0.303																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2317-2319)Aag>Gag		pleckstrin homology domain interacting protein							62.0	64.0	64.0					6																	79700587		2202	4295	6497	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79700587T>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2317A>G	6.37:g.79700587T>C	ENSP00000275034:p.Lys773Glu						p.K773E	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	20	2484	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	773					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2317A>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715559	0.48622	.	.	ENSG00000146247	ENST00000275034	T	0.30714	1.52	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	L	0.39633	1.23	0.39266	D	0.964295	D;D	0.53885	0.963;0.963	B;B	0.41088	0.347;0.347	T	0.04781	-1.0927	9	.	.	.	-14.9767	8.6312	0.33919	0.1706:0.0:0.0:0.8294	.	773;773	A7J992;Q8WWQ0	.;PHIP_HUMAN	E	773	ENSP00000275034:K773E	.	K	-	1	0	PHIP	79757306	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.191000	0.65110	1.996000	0.58369	0.482000	0.46254	AAG		0.303	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			4	41	0	0	0	1	0	4	41				
GPR179	440435	broad.mit.edu	37	17	36484507	36484507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36484507C>T	ENST00000342292.4	-	11	4965	c.4945G>A	c.(4945-4947)Ggc>Agc	p.G1649S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1649					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCAGGGGCCGACCGCTTCT	0.542																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4945-4947)Ggc>Agc		G protein-coupled receptor 179							100.0	104.0	103.0					17																	36484507		1937	4117	6054	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484507C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4945G>A	17.37:g.36484507C>T	ENSP00000345060:p.Gly1649Ser						p.G1649S	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	4965	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1649						Missense_Mutation	SNP	ENST00000342292.4	37	c.4945G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093660	0.20471	.	.	ENSG00000188888	ENST00000342292	T	0.49720	0.77	5.01	2.77	0.32553	.	0.149244	0.42964	N	0.000638	T	0.23806	0.0576	N	0.08118	0	0.23003	N	0.99845	B	0.02656	0.0	B	0.01281	0.0	T	0.13388	-1.0511	10	0.38643	T	0.18	-0.7881	6.6431	0.22921	0.6869:0.1612:0.0:0.1519	.	1649	Q6PRD1	GP179_HUMAN	S	1649	ENSP00000345060:G1649S	ENSP00000345060:G1649S	G	-	1	0	GPR179	33738033	0.638000	0.27225	0.992000	0.48379	0.100000	0.18952	1.195000	0.32186	0.388000	0.25054	-1.124000	0.02001	GGC		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	85	0	0	0	1	0	5	85				
CLDN2	9075	broad.mit.edu	37	X	106171575	106171575	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171575C>T	ENST00000541806.1	+	2	636	c.117C>T	c.(115-117)agC>agT	p.S39S	CLDN2_ENST00000336803.1_Silent_p.S39S|CLDN2_ENST00000540876.1_Silent_p.S39S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	39					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCGGTGCCAGCATTGTGACAG	0.552																																						ENST00000541806.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(115-117)agC>agT		claudin 2							103.0	86.0	92.0					X																	106171575		2203	4300	6503	SO:0001819	synonymous_variant	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171575C>T	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.117C>T	X.37:g.106171575C>T						CLDN2_ENST00000336803.1_Silent_p.S39S|CLDN2_ENST00000540876.1_Silent_p.S39S	p.S39S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN			2	636	+			39					B2R6B9	Silent	SNP	ENST00000541806.1	37	c.117C>T	CCDS14524.1																																																																																				0.552	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			38	60	0	0	0	1	0	38	60				
GEN1	348654	broad.mit.edu	37	2	17946267	17946267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946267G>A	ENST00000381254.2	+	4	666	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.C151Y	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	151	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTCGATGGCTGCCTCACCAAT	0.458								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(451-453)tGc>tAc	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							182.0	163.0	170.0					2																	17946267		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17946267G>A	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.452G>A	2.37:g.17946267G>A	ENSP00000370653:p.Cys151Tyr					SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.C151Y	p.C151Y	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			4	666	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		151			I-domain.		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.452G>A	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752367	0.89753	.	.	ENSG00000178295	ENST00000317402;ENST00000381254	T;T	0.49432	0.78;0.78	5.71	5.71	0.89125	XPG/RAD2 endonuclease (2);	0.000000	0.85682	D	0.000000	T	0.74261	0.3693	M	0.84511	2.7	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.77640	-0.2512	10	0.87932	D	0	-14.2969	19.8493	0.96733	0.0:0.0:1.0:0.0	.	151	Q17RS7	GEN_HUMAN	Y	151	ENSP00000318977:C151Y;ENSP00000370653:C151Y	ENSP00000318977:C151Y	C	+	2	0	GEN1	17809748	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.157000	0.94714	2.701000	0.92244	0.563000	0.77884	TGC		0.458	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		39	62	0	0	0	1	0	39	62				
TCF20	6942	broad.mit.edu	37	22	42608017	42608017	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42608017C>A	ENST00000359486.3	-	1	3431	c.3295G>T	c.(3295-3297)Gac>Tac	p.D1099Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D1099Y|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1099					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCAGTCTTTATACTCC	0.512																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(3295-3297)Gac>Tac		transcription factor 20 (AR1)							68.0	67.0	67.0					22																	42608017		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608017C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3295G>T	22.37:g.42608017C>A	ENSP00000352463:p.Asp1099Tyr					TCF20_ENST00000335626.4_Missense_Mutation_p.D1099Y	p.D1099Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	3431	-			1099					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3295G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444402	0.83993	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.62788	0.01;0.0	5.91	5.91	0.95273	.	0.074269	0.56097	D	0.000033	T	0.65302	0.2678	N	0.19112	0.55	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.56700	0.804;0.642	T	0.69060	-0.5245	10	0.87932	D	0	-23.3702	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1099;1099	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	1099	ENSP00000352463:D1099Y;ENSP00000335561:D1099Y	ENSP00000335561:D1099Y	D	-	1	0	TCF20	40937961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.311000	0.65786	2.802000	0.96397	0.655000	0.94253	GAC		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		11	55	1	0	3.07112e-06	1	3.52574e-06	11	55				
SERPINB10	5273	broad.mit.edu	37	18	61597398	61597398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61597398G>T	ENST00000238508.3	+	6	669	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	204					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAACACCACAGAAAAGCCTTT	0.373																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(610-612)Gaa>Taa		serpin peptidase inhibitor, clade B (ovalbumin), member 10							85.0	91.0	89.0					18																	61597398		2202	4299	6501	SO:0001587	stop_gained	5273							g.chr18:61597398G>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.610G>T	18.37:g.61597398G>T	ENSP00000238508:p.Glu204*						p.E204*	NM_005024.1	NP_005015.1					6	669	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Nonsense_Mutation	SNP	ENST00000238508.3	37	c.610G>T	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269978	0.95429	.	.	ENSG00000242550	ENST00000238508	.	.	.	5.71	4.84	0.62591	.	0.106301	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	10.9143	0.47126	0.0714:0.13:0.7986:0.0	.	.	.	.	X	204	.	ENSP00000238508:E204X	E	+	1	0	SERPINB10	59748378	0.965000	0.33210	0.965000	0.40720	0.930000	0.56654	1.830000	0.39131	1.439000	0.47511	0.655000	0.94253	GAA		0.373	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		12	102	1	0	5.50884e-06	1	6.28354e-06	12	102				
ZNF319	57567	broad.mit.edu	37	16	58030938	58030938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58030938G>A	ENST00000299237.2	-	2	1854	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGCTCGGCAGATTGGTCAAA	0.652																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1231-1233)tCt>tTt		zinc finger protein 319							48.0	49.0	49.0					16																	58030938		2198	4300	6498	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030938G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1232C>T	16.37:g.58030938G>A	ENSP00000299237:p.Ser411Phe						p.S411F	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1854	-			411					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1232C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394462	0.25205	.	.	ENSG00000166188	ENST00000299237	T	0.61392	0.11	5.21	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	M	0.63843	1.955	0.51767	D	0.999933	D	0.89917	1.0	D	0.75484	0.986	T	0.68815	-0.5309	10	0.29301	T	0.29	-12.2396	14.162	0.65452	0.0:0.0:0.8489:0.151	.	411	Q9P2F9	ZN319_HUMAN	F	411	ENSP00000299237:S411F	ENSP00000299237:S411F	S	-	2	0	ZNF319	56588439	1.000000	0.71417	0.999000	0.59377	0.001000	0.01503	7.853000	0.86934	1.168000	0.42723	-0.181000	0.13052	TCT		0.652	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			34	25	0	0	0	1	0	34	25				
OR5M8	219484	broad.mit.edu	37	11	56258291	56258291	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56258291G>A	ENST00000327216.2	-	1	580	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAACAAGCCAGCTTAATCAGT	0.453																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(556-558)Ctg>Ttg		olfactory receptor, family 5, subfamily M, member 8							91.0	91.0	91.0					11																	56258291		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258291G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.556C>T	11.37:g.56258291G>A							p.L186L	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	580	-	Esophageal squamous(21;0.00352)		186					B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.556C>T	CCDS31533.1																																																																																				0.453	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		9	74	0	0	0	1	0	9	74				
HSP90AA1	3320	broad.mit.edu	37	14	102552240	102552240	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552240G>T	ENST00000216281.8	-	3	589	c.384C>A	c.(382-384)atC>atA	p.I128I	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Silent_p.I250I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	128					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CAATCATAGAGATATCTGCAC	0.438																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(748-750)atC>atA		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						69.0	67.0	67.0					14																	102552240		2203	4300	6503	SO:0001819	synonymous_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552240G>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.384C>A	14.37:g.102552240G>T						HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Silent_p.I128I	p.I250I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			4	1031	-			128					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	ENST00000216281.8	37	c.750C>A	CCDS9967.1																																																																																				0.438	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		10	71	1	0	3.07112e-06	1	3.52574e-06	10	71				
PTPRZ1	5803	broad.mit.edu	37	7	121698887	121698887	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121698887T>C	ENST00000393386.2	+	28	6973	c.6562T>C	c.(6562-6564)Tgt>Cgt	p.C2188R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.C1321R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2188	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCACTTTCAGTGTCCTAAATG	0.368																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(6562-6564)Tgt>Cgt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							111.0	111.0	111.0					7																	121698887		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121698887T>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6562T>C	7.37:g.121698887T>C	ENSP00000377047:p.Cys2188Arg					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.C1321R	p.C2188R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			28	6973	+			2188			Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6562T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613864	0.66672	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11277	2.79;2.79	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	M	0.71581	2.175	0.80722	D	1	D;D;D	0.63880	0.985;0.966;0.993	P;P;D	0.67900	0.693;0.845;0.954	T	0.02064	-1.1220	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1327;1321;2188	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	R	2188;1321	ENSP00000377047:C2188R;ENSP00000410000:C1321R	ENSP00000377047:C2188R	C	+	1	0	PTPRZ1	121486123	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.272000	0.43373	2.326000	0.78906	0.533000	0.62120	TGT		0.368	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		9	85	0	0	0	1	0	9	85				
CMTR1	23070	broad.mit.edu	37	6	37429388	37429388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37429388C>T	ENST00000373451.4	+	11	1323	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	387	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GCTTCTGTGTCAGTTCCTCAT	0.552																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1159-1161)Cag>Tag									118.0	107.0	111.0					6																	37429388		2203	4300	6503	SO:0001587	stop_gained	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37429388C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1159C>T	6.37:g.37429388C>T	ENSP00000362550:p.Gln387*					FTSJD2_ENST00000493656.1_3'UTR	p.Q387*	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			11	1323	+			387					A8K949|Q14670|Q96FJ9	Nonsense_Mutation	SNP	ENST00000373451.4	37	c.1159C>T	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	39	7.752419	0.98471	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.73	18.9443	0.92616	0.0:1.0:0.0:0.0	.	.	.	.	X	387;331;331	.	ENSP00000362526:Q331X	Q	+	1	0	FTSJD2	37537366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.725000	0.93324	0.591000	0.81541	CAG		0.552	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		13	37	0	0	0	1	0	13	37				
FLRT2	23768	broad.mit.edu	37	14	86087934	86087934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86087934C>T	ENST00000330753.4	+	2	843	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	FLRT2_ENST00000554746.1_Missense_Mutation_p.L26F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	26					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCCTGGGGCTCTACTCACA	0.507																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(76-78)Ctc>Ttc		fibronectin leucine rich transmembrane protein 2							87.0	86.0	86.0					14																	86087934		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087934C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.76C>T	14.37:g.86087934C>T	ENSP00000332879:p.Leu26Phe					FLRT2_ENST00000554746.1_Missense_Mutation_p.L26F	p.L26F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	843	+			26					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.76C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812389	0.70912	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.61392	0.11;0.11	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	N	0.19112	0.55	0.50313	D	0.999862	D	0.64830	0.994	D	0.75484	0.986	T	0.69224	-0.5201	10	0.62326	D	0.03	-17.4099	19.9036	0.96999	0.0:1.0:0.0:0.0	.	26	O43155	FLRT2_HUMAN	F	26	ENSP00000332879:L26F;ENSP00000451050:L26F	ENSP00000332879:L26F	L	+	1	0	FLRT2	85157687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.437000	0.80417	2.706000	0.92434	0.655000	0.94253	CTC		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			35	41	0	0	0	1	0	35	41				
CLTC	1213	broad.mit.edu	37	17	57760372	57760372	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57760372T>C	ENST00000269122.3	+	24	4144	c.3870T>C	c.(3868-3870)taT>taC	p.Y1290Y	CLTC_ENST00000393043.1_Silent_p.Y1290Y|CLTC_ENST00000579456.1_Silent_p.Y227Y	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1290	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACTACTATCAGGTATTAA	0.368			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(3868-3870)taT>taC		clathrin, heavy chain (Hc)							126.0	118.0	121.0					17																	57760372		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57760372T>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3870T>C	17.37:g.57760372T>C						CLTC_ENST00000393043.1_Silent_p.Y1290Y|CLTC_ENST00000579456.1_Silent_p.Y227Y	p.Y1290Y	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			24	4144	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1290			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.3870T>C	CCDS32696.1																																																																																				0.368	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		6	85	0	0	0	1	0	6	85				
UPF1	5976	broad.mit.edu	37	19	18965817	18965817	+	Silent	SNP	G	G	A	rs576490273		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18965817G>A	ENST00000599848.1	+	10	1637	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	UPF1_ENST00000262803.5_Silent_p.A465A			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	476					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCTTCACGGCGCAGGGCCTCC	0.672																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1393-1395)gcG>gcA		UPF1 regulator of nonsense transcripts homolog (yeast)							69.0	66.0	67.0					19																	18965817		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18965817G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1428G>A	19.37:g.18965817G>A						UPF1_ENST00000599848.1_Silent_p.A476A	p.A465A	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			10	1667	+			476					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.1395G>A																																																																																					0.672	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		17	40	0	0	0	1	0	17	40				
OBFC1	79991	broad.mit.edu	37	10	105677256	105677256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105677256C>T	ENST00000224950.3	-	2	264	c.97G>A	c.(97-99)Gat>Aat	p.D33N	OBFC1_ENST00000369764.1_Missense_Mutation_p.D33N|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	33					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCCAGGATATCCCTGATGTAG	0.562																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(97-99)Gat>Aat		oligonucleotide/oligosaccharide-binding fold containing 1							70.0	68.0	69.0					10																	105677256		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105677256C>T	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.97G>A	10.37:g.105677256C>T	ENSP00000224950:p.Asp33Asn					OBFC1_ENST00000369764.1_Missense_Mutation_p.D33N|OBFC1_ENST00000466828.1_5'UTR	p.D33N	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	2	264	-		Colorectal(252;0.178)	33					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.97G>A	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420458	0.96111	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.58940	0.3;0.3	5.67	5.67	0.87782	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.77595	-0.2529	10	0.54805	T	0.06	-21.4711	16.6872	0.85311	0.0:1.0:0.0:0.0	.	33	Q9H668	STN1_HUMAN	N	33	ENSP00000224950:D33N;ENSP00000358779:D33N	ENSP00000224950:D33N	D	-	1	0	OBFC1	105667246	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.102000	0.71486	2.676000	0.91093	0.561000	0.74099	GAT		0.562	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		23	29	0	0	0	1	0	23	29				
OCRL	4952	broad.mit.edu	37	X	128723882	128723882	+	Nonsense_Mutation	SNP	C	C	T	rs387906484		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128723882C>T	ENST00000371113.4	+	23	2695	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R836*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	844	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGCATTCCTTCGAGAACTCTT	0.423																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48	GRCh37	CM930520	OCRL	M		c.(2530-2532)Cga>Tga		oculocerebrorenal syndrome of Lowe							135.0	120.0	125.0					X																	128723882		2203	4300	6503	SO:0001587	stop_gained	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128723882C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2530C>T	X.37:g.128723882C>T	ENSP00000360154:p.Arg844*					OCRL_ENST00000357121.5_Nonsense_Mutation_p.R836*	p.R844*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			23	2695	+			844			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Nonsense_Mutation	SNP	ENST00000371113.4	37	c.2530C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	42	9.714659	0.99245	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	.	.	.	5.65	5.65	0.86999	.	0.127377	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6726	0.56876	0.1644:0.8356:0.0:0.0	.	.	.	.	X	844;836	.	ENSP00000349635:R836X	R	+	1	2	OCRL	128551563	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.760000	0.55235	2.373000	0.80994	0.600000	0.82982	CGA		0.423	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		14	151	0	0	0	1	0	14	151				
PPP1R14D	54866	broad.mit.edu	37	15	41107959	41107959	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41107959C>T	ENST00000299174.5	-	4	440	c.373G>A	c.(373-375)Gct>Act	p.A125T	PPP1R14D_ENST00000427255.2_Splice_Site_p.R163R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	125					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAGATAAAAGCCTGAGGGAGA	0.562																																						ENST00000299174.5																			0				breast(1)|large_intestine(2)|lung(2)|skin(1)	6						c.e4-1		protein phosphatase 1, regulatory (inhibitor) subunit 14D							38.0	38.0	38.0					15																	41107959		2203	4300	6503	SO:0001630	splice_region_variant	54866				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr15:41107959C>T	AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14953	protein-coding gene	gene with protein product	"""gut and brain phosphatase inhibitor 1"", ""PKC-dependent PP1 inhibitory protein"""	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.373-1G>A	15.37:g.41107959C>T						PPP1R14D_ENST00000427255.2_Splice_Site_p.R163_splice	p.A125_splice	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	440	-		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	125					Q4V773	Splice_Site	SNP	ENST00000299174.5	37	c.372_splice	CCDS10066.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873696	0.33069	.	.	ENSG00000166143	ENST00000299174	.	.	.	5.1	-6.54	0.01860	.	1.749450	0.03101	N	0.161100	T	0.25901	0.0631	.	.	.	0.44036	D	0.996769	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	8	0.14656	T	0.56	.	0.9871	0.01448	0.2594:0.3487:0.1708:0.221	.	125	Q9NXH3	PP14D_HUMAN	T	125	.	ENSP00000299174:A125T	A	-	1	0	PPP1R14D	38895251	0.020000	0.18652	0.060000	0.19600	0.609000	0.37215	-1.541000	0.02198	-1.252000	0.02491	-0.841000	0.03054	GCT		0.562	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252355.2	NM_017726	Missense_Mutation	14	14	0	0	0	1	0	14	14				
FLT3	2322	broad.mit.edu	37	13	28592603	28592603	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28592603C>T	ENST00000241453.7	-	20	2623		c.e20+1		FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.V848M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCCTCACATTGCCCCTG	0.423			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2542-2544)Gtg>Atg		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						164.0	130.0	142.0					13																	28592603		2203	4300	6503	SO:0001630	splice_region_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592603C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2541+1G>A	13.37:g.28592603C>T						FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Intron	p.V848M			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	20	2623	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	847			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2542G>A	CCDS31953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.035222|5.035222	0.93630|0.93630	.|.	.|.	ENSG00000122025|ENSG00000122025	ENST00000241453|ENST00000380982	.|D	.|0.82619	.|-1.63	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|1.527580	.|0.04349	.|N	.|0.355353	.|D	.|0.91560	.|0.7334	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81876	.|-0.0731	.|7	.|0.72032	.|D	.|0.01	.|.	20.221|20.221	0.98325|0.98325	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|M	-1|848	.|ENSP00000370369:V848M	.|ENSP00000370369:V848M	.|V	-|-	.|1	.|0	FLT3|FLT3	27490603|27490603	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.953000|0.953000	0.61014|0.61014	7.815000|7.815000	0.86186|0.86186	2.792000|2.792000	0.96026|0.96026	0.556000|0.556000	0.70494|0.70494	.|GTG		0.423	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron	14	35	0	0	0	1	0	14	35				
FRYL	285527	broad.mit.edu	37	4	48563643	48563643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48563643G>A	ENST00000503238.1	-	30	3706	c.3707C>T	c.(3706-3708)cCg>cTg	p.P1236L	FRYL_ENST00000507711.1_Missense_Mutation_p.P1236L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.P1236L|FRYL_ENST00000358350.4_Missense_Mutation_p.P1236L			O94915	FRYL_HUMAN	FRY-like	1236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACATCTTCGGTTCCAGAAT	0.338																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3706-3708)cCg>cTg		FRY-like							93.0	91.0	91.0					4																	48563643		1869	4098	5967	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48563643G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3707C>T	4.37:g.48563643G>A	ENSP00000426064:p.Pro1236Leu					FRYL_ENST00000507711.1_Missense_Mutation_p.P1236L|FRYL_ENST00000503238.1_Missense_Mutation_p.P1236L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.P1236L	p.P1236L			O94915	FRYL_HUMAN			33	4311	-			1236					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3707C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778017	0.90195	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.41400	1.99;1.99;1.99;1.0	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	N	0.25647	0.755	0.80722	D	1	D;P;P	0.89917	1.0;0.629;0.826	D;P;B	0.81914	0.995;0.649;0.193	T	0.45833	-0.9234	10	0.32370	T	0.25	.	20.1013	0.97878	0.0:0.0:1.0:0.0	.	1236;67;1236	F2Z2S2;Q6ZR29;O94915	.;.;FRYL_HUMAN	L	1236	ENSP00000426064:P1236L;ENSP00000351113:P1236L;ENSP00000441114:P1236L;ENSP00000421584:P1236L	ENSP00000351113:P1236L	P	-	2	0	FRYL	48258400	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.476000	0.97823	2.748000	0.94277	0.655000	0.94253	CCG		0.338	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			28	37	0	0	0	1	0	28	37				
RNF214	257160	broad.mit.edu	37	11	117109762	117109762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117109762C>T	ENST00000531452.1	+	3	599	c.553C>T	c.(553-555)Cga>Tga	p.R185*	RNF214_ENST00000531287.1_Intron|RNF214_ENST00000530849.1_Intron|RNF214_ENST00000300650.4_Nonsense_Mutation_p.R185*	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	185							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGAAGGAGTCCGAGTGGATCA	0.443																																						ENST00000531452.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(553-555)Cga>Tga		ring finger protein 214							71.0	72.0	71.0					11																	117109762		1987	4166	6153	SO:0001587	stop_gained	257160						zinc ion binding	g.chr11:117109762C>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.553C>T	11.37:g.117109762C>T	ENSP00000431643:p.Arg185*					RNF214_ENST00000300650.4_Nonsense_Mutation_p.R185*|RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron	p.R185*	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	3	599	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	185					B2RUW0|B4DTD1	Nonsense_Mutation	SNP	ENST00000531452.1	37	c.553C>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195497	0.78902	.	.	ENSG00000167257	ENST00000531452;ENST00000300650	.	.	.	5.69	0.238	0.15480	.	0.207711	0.34460	N	0.003944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.986	8.954	0.35807	0.3233:0.5964:0.0803:0.0	.	.	.	.	X	185	.	.	R	+	1	2	RNF214	116614972	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	0.934000	0.28910	0.071000	0.16664	-0.467000	0.05162	CGA		0.443	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		39	46	0	0	0	1	0	39	46				
ENPP5	59084	broad.mit.edu	37	6	46129422	46129422	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46129422A>T	ENST00000371383.2	-	5	1335	c.1075T>A	c.(1075-1077)Ttc>Atc	p.F359I	ENPP5_ENST00000230565.3_Missense_Mutation_p.F359I					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTCTTTCTGAAGGCAGGACCA	0.418																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1075-1077)Ttc>Atc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							255.0	271.0	265.0					6																	46129422		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129422A>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1075T>A	6.37:g.46129422A>T	ENSP00000360436:p.Phe359Ile					ENPP5_ENST00000230565.3_Missense_Mutation_p.F359I	p.F359I			Q9UJA9	ENPP5_HUMAN			5	1335	-			359						Missense_Mutation	SNP	ENST00000371383.2	37	c.1075T>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091343	0.94149	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75477	-0.94;-0.94	5.63	5.63	0.86233	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.67569	2.06	0.50467	D	0.999876	D	0.65815	0.995	D	0.64410	0.925	T	0.82442	-0.0455	10	0.59425	D	0.04	-19.7029	14.408	0.67096	1.0:0.0:0.0:0.0	.	359	Q9UJA9	ENPP5_HUMAN	I	359	ENSP00000360436:F359I;ENSP00000230565:F359I	ENSP00000230565:F359I	F	-	1	0	ENPP5	46237381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.373000	0.90131	2.145000	0.66743	0.533000	0.62120	TTC		0.418	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			31	347	0	0	0	1	0	31	347				
EPPK1	83481	broad.mit.edu	37	8	144940270	144940270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940270C>A	ENST00000525985.1	-	2	7223	c.7152G>T	c.(7150-7152)aaG>aaT	p.K2384N				P58107	EPIPL_HUMAN	epiplakin 1	2384						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAAGAAGCCCTTGGTGTCGT	0.647																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7150-7152)aaG>aaT		epiplakin 1							275.0	258.0	264.0					8																	144940270		2192	4273	6465	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940270C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7152G>T	8.37:g.144940270C>A	ENSP00000436337:p.Lys2384Asn						p.K2384N			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7223	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2384					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7152G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.956807	0.73902	.	.	ENSG00000227184	ENST00000525985	T	0.71817	-0.6	4.43	4.43	0.53597	.	.	.	.	.	T	0.80116	0.4564	M	0.70842	2.15	0.39201	D	0.96313	D	0.89917	1.0	D	0.72982	0.979	T	0.81324	-0.0984	9	0.54805	T	0.06	.	8.5052	0.33184	0.0:0.8963:0.0:0.1037	.	2384	E9PPU0	.	N	2384	ENSP00000436337:K2384N	ENSP00000436337:K2384N	K	-	3	2	EPPK1	145012258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.125000	0.31332	2.455000	0.83008	0.591000	0.81541	AAG		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		19	220	1	0	1.96292e-10	1	2.41709e-10	19	220				
SH3TC1	54436	broad.mit.edu	37	4	8233806	8233806	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8233806C>T	ENST00000245105.3	+	13	3121	c.3054C>T	c.(3052-3054)tgC>tgT	p.C1018C	SH3TC1_ENST00000539824.1_Silent_p.C942C	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1018										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCTGGCCTGCAAGGTGGCCG	0.662																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2824-2826)tgC>tgT		SH3 domain and tetratricopeptide repeats 1							58.0	55.0	56.0					4																	8233806		2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8233806C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3054C>T	4.37:g.8233806C>T						SH3TC1_ENST00000245105.3_Silent_p.C1018C	p.C942C			Q8TE82	S3TC1_HUMAN			13	3200	+			1018					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2826C>T	CCDS3399.1																																																																																				0.662	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		20	26	0	0	0	1	0	20	26				
CEP250	11190	broad.mit.edu	37	20	34099322	34099322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34099322C>T	ENST00000397527.1	+	35	7916	c.7196C>T	c.(7195-7197)gCc>gTc	p.A2399V	CEP250_ENST00000342580.4_Missense_Mutation_p.A2343V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2399					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGCCGTGGCCCAGGCCCCT	0.632																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7195-7197)gCc>gTc		centrosomal protein 250kDa							56.0	53.0	54.0					20																	34099322		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34099322C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7196C>T	20.37:g.34099322C>T	ENSP00000380661:p.Ala2399Val					CEP250_ENST00000342580.4_Missense_Mutation_p.A2343V	p.A2399V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7916	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2399					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7196C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935364	0.52866	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.52295	2.65;2.64;0.67	4.45	4.45	0.53987	.	0.253385	0.28187	N	0.016275	T	0.64972	0.2647	M	0.75447	2.3	0.30318	N	0.78784	D	0.89917	1.0	D	0.85130	0.997	T	0.62196	-0.6905	10	0.27785	T	0.31	.	12.158	0.54087	0.0:0.9139:0.0:0.0861	.	2399	Q9BV73	CP250_HUMAN	V	2399;2343;834	ENSP00000380661:A2399V;ENSP00000341541:A2343V;ENSP00000395992:A834V	ENSP00000341541:A2343V	A	+	2	0	CEP250	33562736	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	1.973000	0.40550	2.478000	0.83669	0.561000	0.74099	GCC		0.632	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		18	39	0	0	0	1	0	18	39				
EPB41	2035	broad.mit.edu	37	1	29344862	29344862	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29344862C>A	ENST00000343067.4	+	7	1159	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	EPB41_ENST00000356093.2_Silent_p.L344L|EPB41_ENST00000349460.4_Silent_p.L135L|EPB41_ENST00000373798.1_Silent_p.L344L|EPB41_ENST00000373797.1_Silent_p.L344L|EPB41_ENST00000373800.3_Silent_p.L135L|EPB41_ENST00000398863.2_Silent_p.L344L|EPB41_ENST00000347529.3_Silent_p.L309L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	344	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACCCAGAACTCCATGGCGTGG	0.453																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1030-1032)ctC>ctA		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							151.0	136.0	141.0					1																	29344862		2203	4300	6503	SO:0001819	synonymous_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29344862C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1032C>A	1.37:g.29344862C>A						EPB41_ENST00000398863.2_Silent_p.L344L|EPB41_ENST00000373798.1_Silent_p.L344L|EPB41_ENST00000349460.4_Silent_p.L135L|EPB41_ENST00000373797.1_Silent_p.L344L|EPB41_ENST00000347529.3_Silent_p.L309L|EPB41_ENST00000373800.3_Silent_p.L135L|EPB41_ENST00000356093.2_Silent_p.L344L	p.L344L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	7	1159	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	344			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	c.1032C>A	CCDS53288.1																																																																																				0.453	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		10	107	1	0	0.000673444	1	0.000724755	10	107				
VPS13A	23230	broad.mit.edu	37	9	79952386	79952386	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79952386T>C	ENST00000360280.3	+	47	6571	c.6311T>C	c.(6310-6312)aTa>aCa	p.I2104T	VPS13A_ENST00000376636.3_Missense_Mutation_p.I2065T|VPS13A_ENST00000357409.5_Missense_Mutation_p.I2104T|VPS13A_ENST00000376634.4_Missense_Mutation_p.I2104T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2104					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACCATACATAATGCATTTG	0.348																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(6310-6312)aTa>aCa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							96.0	98.0	97.0					9																	79952386		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79952386T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6311T>C	9.37:g.79952386T>C	ENSP00000353422:p.Ile2104Thr					VPS13A_ENST00000376634.4_Missense_Mutation_p.I2104T|VPS13A_ENST00000357409.5_Missense_Mutation_p.I2104T|VPS13A_ENST00000376636.3_Missense_Mutation_p.I2065T	p.I2104T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			47	6571	+			2104					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6311T>C	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.05|16.05	3.012839|3.012839	0.54468|0.54468	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.40756|.	1.19;1.02;1.1;1.19|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.193721|.	0.44285|.	D|.	0.000473|.	T|.	0.71592|.	0.3358|.	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	P;B;B;B;B|.	0.37663|.	0.604;0.002;0.005;0.022;0.009|.	B;B;B;B;B|.	0.36244|.	0.22;0.025;0.013;0.029;0.029|.	T|.	0.70749|.	-0.4787|.	10|.	0.02654|.	T|.	1|.	.|.	15.6917|15.6917	0.77461|0.77461	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	356;2065;2104;2104;2104|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	T|Q	2104;2065;2104;2104|357	ENSP00000365821:I2104T;ENSP00000365823:I2065T;ENSP00000353422:I2104T;ENSP00000349985:I2104T|.	ENSP00000349985:I2104T|.	I|X	+|+	2|1	0|0	VPS13A|VPS13A	79142206|79142206	1.000000|1.000000	0.71417|0.71417	0.038000|0.038000	0.18304|0.18304	0.982000|0.982000	0.71751|0.71751	7.594000|7.594000	0.82698|0.82698	2.118000|2.118000	0.64928|0.64928	0.528000|0.528000	0.53228|0.53228	ATA|TAA		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		32	58	0	0	0	1	0	32	58				
EPHA7	2045	broad.mit.edu	37	6	94120851	94120851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120851G>A	ENST00000369303.4	-	3	384	c.200C>T	c.(199-201)cCg>cTg	p.P67L	EPHA7_ENST00000369297.1_Missense_Mutation_p.P67L	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	67	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTCGTATCGGGGTATAGTT	0.393																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(199-201)cCg>cTg		EPH receptor A7							95.0	100.0	98.0					6																	94120851		2176	4287	6463	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120851G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.200C>T	6.37:g.94120851G>A	ENSP00000358309:p.Pro67Leu					EPHA7_ENST00000369297.1_Missense_Mutation_p.P67L	p.P67L	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	384	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	67					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.200C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714643	0.89112	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.03580	3.88;3.88	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.051730	0.85682	D	0.000000	T	0.12561	0.0305	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;1.0;1.0	T	0.01078	-1.1459	10	0.56958	D	0.05	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	67;67;67;67	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	L	67	ENSP00000358309:P67L;ENSP00000358303:P67L	ENSP00000358303:P67L	P	-	2	0	EPHA7	94177572	1.000000	0.71417	0.860000	0.33809	0.983000	0.72400	9.813000	0.99286	2.750000	0.94351	0.655000	0.94253	CCG		0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			7	120	0	0	0	1	0	7	120				
ZFAND6	54469	broad.mit.edu	37	15	80423623	80423623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80423623G>A	ENST00000261749.6	+	6	888	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	ZFAND6_ENST00000558494.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559775.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558688.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000561060.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558087.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559157.1_Missense_Mutation_p.V144M|ZFAND6_ENST00000559835.1_Missense_Mutation_p.V156M	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	156					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAGGAAGAAAGTGGGACTTAC	0.348																																						ENST00000261749.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(466-468)Gtg>Atg		zinc finger, AN1-type domain 6							92.0	86.0	88.0					15																	80423623		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80423623G>A	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.466G>A	15.37:g.80423623G>A	ENSP00000261749:p.Val156Met					ZFAND6_ENST00000558087.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559835.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558494.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558688.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000561060.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559157.1_Missense_Mutation_p.V144M|ZFAND6_ENST00000559775.1_Missense_Mutation_p.V156M	p.V156M	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN			6	888	+			156					D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.466G>A	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630049	0.67015	.	.	ENSG00000086666	ENST00000261749	T	0.45668	0.89	5.28	4.35	0.52113	Zinc finger, AN1-type (4);	0.088167	0.45361	D	0.000363	T	0.57344	0.2047	M	0.84585	2.705	0.49389	D	0.999783	B;B	0.29508	0.243;0.246	P;B	0.44359	0.447;0.241	T	0.60905	-0.7170	10	0.66056	D	0.02	.	9.5748	0.39450	0.0747:0.1431:0.7822:0.0	.	144;156	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	M	156	ENSP00000261749:V156M	ENSP00000261749:V156M	V	+	1	0	ZFAND6	78210678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.230000	0.58632	1.192000	0.43071	0.591000	0.81541	GTG		0.348	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		23	40	0	0	0	1	0	23	40				
CUX1	1523	broad.mit.edu	37	7	101842124	101842124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101842124C>T	ENST00000292535.7	+	16	1975	c.1937C>T	c.(1936-1938)cCg>cTg	p.P646L	CUX1_ENST00000550008.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P544L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.P657L|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	646					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGAAGTACCGAAACGAAGA	0.458																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1969-1971)cCg>cTg		cut-like homeobox 1							135.0	119.0	124.0					7																	101842124		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101842124C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1937C>T	7.37:g.101842124C>T	ENSP00000292535:p.Pro646Leu					CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P544L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P646L|CUX1_ENST00000393824.3_Intron	p.P657L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			16	1990	+			646					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1970C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838321	0.91117	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000546411	T;T;T	0.61274	0.13;0.12;0.16	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76099	-0.3083	10	0.87932	D	0	-30.5783	19.1191	0.93355	0.0:1.0:0.0:0.0	.	646;657	P39880;P39880-3	CUX1_HUMAN;.	L	657;646;544	ENSP00000353401:P657L;ENSP00000292535:P646L;ENSP00000450125:P544L	ENSP00000292535:P646L	P	+	2	0	CUX1	101628844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.051000	0.76627	2.837000	0.97791	0.655000	0.94253	CCG		0.458	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		4	84	0	0	0	1	0	4	84				
DMBT1	1755	broad.mit.edu	37	10	124336138	124336138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124336138G>A	ENST00000338354.3	+	7	613	c.507G>A	c.(505-507)gtG>gtA	p.V169V	DMBT1_ENST00000368909.3_Silent_p.V169V|DMBT1_ENST00000330163.4_Silent_p.V169V|DMBT1_ENST00000344338.3_Silent_p.V169V|DMBT1_ENST00000359586.6_Silent_p.V169V|DMBT1_ENST00000368955.3_Silent_p.V169V|DMBT1_ENST00000368956.2_Silent_p.V169V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	169	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATGATGTGCGCTGCTCAG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(505-507)gtG>gtA		deleted in malignant brain tumors 1							148.0	145.0	146.0					10																	124336138		2068	4242	6310	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336138G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.507G>A	10.37:g.124336138G>A						DMBT1_ENST00000368956.2_Silent_p.V169V|DMBT1_ENST00000368909.3_Silent_p.V169V|DMBT1_ENST00000344338.3_Silent_p.V169V|DMBT1_ENST00000359586.6_Silent_p.V169V|DMBT1_ENST00000368955.3_Silent_p.V169V|DMBT1_ENST00000330163.4_Silent_p.V169V	p.V169V			Q9UGM3	DMBT1_HUMAN			7	613	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	169			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.507G>A																																																																																					0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		46	79	0	0	0	1	0	46	79				
VWA3B	200403	broad.mit.edu	37	2	98928714	98928714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98928714G>A	ENST00000477737.1	+	28	3991	c.3787G>A	c.(3787-3789)Gcc>Acc	p.A1263T	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1263										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGCAGCCACGCCATCATTGC	0.597																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3787-3789)Gcc>Acc		von Willebrand factor A domain containing 3B							57.0	67.0	64.0					2																	98928714		2122	4221	6343	SO:0001583	missense	200403							g.chr2:98928714G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3787G>A	2.37:g.98928714G>A	ENSP00000417955:p.Ala1263Thr					VWA3B_ENST00000490947.2_3'UTR	p.A1263T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			28	3991	+			1263					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3787G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295214	0.40594	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.06849	3.25	4.52	-6.97	0.01616	.	.	.	.	.	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.41413	-0.9510	9	0.45353	T	0.12	.	7.1069	0.25368	0.4032:0.0:0.4681:0.1287	.	1263	Q502W6	VWA3B_HUMAN	T	1263;385	ENSP00000417955:A1263T	ENSP00000351009:A385T	A	+	1	0	VWA3B	98295146	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.333000	0.07894	-1.584000	0.01636	-0.136000	0.14681	GCC		0.597	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		28	30	0	0	0	1	0	28	30				
SEZ6L	23544	broad.mit.edu	37	22	26706775	26706775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26706775G>A	ENST00000248933.6	+	7	1749	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	SEZ6L_ENST00000403121.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A552T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A552T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A552T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A552T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	552	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCCGGGCGGCCTCCACCTT	0.607																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1654-1656)Gcc>Acc		seizure related 6 homolog (mouse)-like							80.0	74.0	76.0					22																	26706775		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26706775G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1654G>A	22.37:g.26706775G>A	ENSP00000248933:p.Ala552Thr					SEZ6L_ENST00000360929.3_Missense_Mutation_p.A552T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A552T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A552T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A552T	p.A552T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			7	1850	+			552			CUB 2.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1654G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801234	0.31869	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.04	2.92	0.33932	CUB (5);	0.398451	0.20607	N	0.089042	T	0.26376	0.0644	M	0.70842	2.15	0.58432	D	0.999996	P;P;P;P;P;P;P	0.40398	0.623;0.488;0.698;0.51;0.716;0.488;0.488	B;B;B;B;B;B;B	0.43386	0.418;0.243;0.257;0.228;0.311;0.243;0.243	T	0.03852	-1.0998	10	0.52906	T	0.07	.	7.9723	0.30134	0.1513:0.0:0.7167:0.1321	.	552;552;325;552;552;552;552	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	T	552;552;552;552;552;325;325	ENSP00000384772:A552T;ENSP00000437037:A552T;ENSP00000354185:A552T;ENSP00000248933:A552T;ENSP00000342661:A552T;ENSP00000384838:A325T;ENSP00000384733:A325T	ENSP00000248933:A552T	A	+	1	0	SEZ6L	25036775	0.025000	0.19082	0.765000	0.31456	0.280000	0.26924	0.400000	0.20932	1.267000	0.44247	0.561000	0.74099	GCC		0.607	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			32	58	0	0	0	1	0	32	58				
GRK5	2869	broad.mit.edu	37	10	121212232	121212232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121212232C>T	ENST00000392870.2	+	14	1783	c.1454C>T	c.(1453-1455)aCt>aTt	p.T485I	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Missense_Mutation_p.T380I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	485	AGC-kinase C-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGTTCTCCACTGTGAAGGGC	0.602																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(1453-1455)aCt>aTt		G protein-coupled receptor kinase 5							141.0	109.0	120.0					10																	121212232		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121212232C>T	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1454C>T	10.37:g.121212232C>T	ENSP00000376609:p.Thr485Ile					GRK5_ENST00000369108.3_Missense_Mutation_p.T380I|GRK5_ENST00000473264.1_3'UTR	p.T485I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	14	1783	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	485			AGC-kinase C-terminal.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1454C>T	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	c	24.0	4.476736	0.84640	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.52295	0.67;0.67	5.14	4.23	0.50019	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000010	T	0.71710	0.3372	M	0.88105	2.93	0.80722	D	1	D;B	0.63880	0.993;0.281	D;B	0.71184	0.972;0.031	T	0.77707	-0.2487	10	0.72032	D	0.01	.	13.531	0.61621	0.0:0.9246:0.0:0.0754	.	485;485	B2R7K0;P34947	.;GRK5_HUMAN	I	485;228;380	ENSP00000376609:T485I;ENSP00000358104:T380I	ENSP00000358104:T380I	T	+	2	0	GRK5	121202222	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.781000	0.85668	1.157000	0.42530	0.556000	0.70494	ACT		0.602	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		11	30	0	0	0	1	0	11	30				
TRIM50	135892	broad.mit.edu	37	7	72732972	72732972	+	Missense_Mutation	SNP	C	C	T	rs147367299	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72732972C>T	ENST00000333149.2	-	4	775	c.575G>A	c.(574-576)cGc>cAc	p.R192H	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Missense_Mutation_p.R192H	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	192						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTCCAGGCAGCGGGCCTTCTC	0.677																																						ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(574-576)cGc>cAc		tripartite motif containing 50		C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	73.0	75.0	74.0		575	2.3	1.0	7	dbSNP_134	74	0,8600		0,0,4300	no	missense	TRIM50	NM_178125.2	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	192/488	72732972	5,13001	2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72732972C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.575G>A	7.37:g.72732972C>T	ENSP00000327994:p.Arg192His					TRIM50_ENST00000453152.1_Missense_Mutation_p.R192H	p.R192H	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			4	775	-			192					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.575G>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079082	0.36662	0.001135	0.0	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.65732	-0.17;-0.17	4.36	2.32	0.28847	.	0.512441	0.17450	N	0.173826	T	0.38665	0.1049	N	0.14661	0.345	0.23708	N	0.997051	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.18209	-1.0344	10	0.39692	T	0.17	.	4.4246	0.11497	0.0:0.5109:0.1782:0.3108	.	192;192	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	H	192	ENSP00000327994:R192H;ENSP00000413875:R192H	ENSP00000327994:R192H	R	-	2	0	TRIM50	72370908	0.997000	0.39634	0.999000	0.59377	0.956000	0.61745	0.452000	0.21795	0.364000	0.24374	0.461000	0.40582	CGC		0.677	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		68	122	0	0	0	1	0	68	122				
SEZ6	124925	broad.mit.edu	37	17	27284489	27284489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27284489C>T	ENST00000317338.12	-	12	2799	c.2371G>A	c.(2371-2373)Gtg>Atg	p.V791M	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.V791M|SEZ6_ENST00000360295.9_Missense_Mutation_p.V791M|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	791	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGCCCCCACGGGAAACTTG	0.597																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2371-2373)Gtg>Atg		seizure related 6 homolog (mouse)							54.0	62.0	59.0					17																	27284489		1954	4141	6095	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27284489C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2371G>A	17.37:g.27284489C>T	ENSP00000312942:p.Val791Met					SEZ6_ENST00000360295.9_Missense_Mutation_p.V791M|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.V791M	p.V791M			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		12	2799	-	Lung NSC(42;0.0137)		791			Sushi 4.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2371G>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137012	0.77775	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.67698	-0.28;-0.28	5.39	5.39	0.77823	Complement control module (2);Sushi/SCR/CCP (3);	0.068143	0.56097	D	0.000025	D	0.83788	0.5330	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	D	0.86109	0.1561	10	0.87932	D	0	.	16.9908	0.86353	0.0:1.0:0.0:0.0	.	791;791	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	M	791;791;666;791	ENSP00000403784:V791M;ENSP00000353440:V791M	ENSP00000312942:V666M	V	-	1	0	SEZ6	24308615	0.999000	0.42202	0.999000	0.59377	0.948000	0.59901	5.774000	0.68906	2.693000	0.91896	0.313000	0.20887	GTG		0.597	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			8	54	0	0	0	1	0	8	54				
ABCB5	340273	broad.mit.edu	37	7	20784923	20784923	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20784923T>A	ENST00000404938.2	+	26	3943	c.3291T>A	c.(3289-3291)ccT>ccA	p.P1097P	ABCB5_ENST00000258738.6_Silent_p.P652P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1097	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAATCGTTCCTCAAGAGCCTG	0.468																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3289-3291)ccT>ccA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							147.0	134.0	138.0					7																	20784923		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20784923T>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3291T>A	7.37:g.20784923T>A						ABCB5_ENST00000258738.6_Silent_p.P652P	p.P1097P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			26	3943	+			652					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.3291T>A	CCDS55090.1																																																																																				0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		5	125	0	0	0	1	0	5	125				
FRYL	285527	broad.mit.edu	37	4	48502119	48502119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48502119G>A	ENST00000503238.1	-	60	8710	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	FRYL_ENST00000264319.7_Missense_Mutation_p.A294V|FRYL_ENST00000537810.1_Missense_Mutation_p.A2904V|FRYL_ENST00000358350.4_Missense_Mutation_p.A2904V|FRYL_ENST00000507873.2_Missense_Mutation_p.A294V			O94915	FRYL_HUMAN	FRY-like	2904					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAATGAATGGCAGTTTCTAT	0.368																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8710-8712)gCc>gTc		FRY-like							93.0	90.0	91.0					4																	48502119		1828	4078	5906	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48502119G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8711C>T	4.37:g.48502119G>A	ENSP00000426064:p.Ala2904Val					FRYL_ENST00000503238.1_Missense_Mutation_p.A2904V|FRYL_ENST00000507873.2_Missense_Mutation_p.A294V|FRYL_ENST00000264319.7_Missense_Mutation_p.A294V|FRYL_ENST00000358350.4_Missense_Mutation_p.A2904V	p.A2904V			O94915	FRYL_HUMAN			63	9315	-			2904					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8711C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	36	5.607005	0.96626	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.27720	1.65;1.65;1.65	5.95	5.95	0.96441	.	0.000000	0.64402	U	0.000001	T	0.56615	0.1997	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.52358	-0.8586	10	0.56958	D	0.05	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	2904;2904;294	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	V	2904;2904;2904;294;294	ENSP00000426064:A2904V;ENSP00000351113:A2904V;ENSP00000441114:A2904V	ENSP00000264319:A294V	A	-	2	0	FRYL	48196876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.826000	0.97356	0.491000	0.48974	GCC		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			5	62	0	0	0	1	0	5	62				
ZNF574	64763	broad.mit.edu	37	19	42585217	42585217	+	Missense_Mutation	SNP	G	G	A	rs369839721		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42585217G>A	ENST00000600245.1	+	2	3114	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R910Q|ZNF574_ENST00000359044.4_Missense_Mutation_p.R820Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	820					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACAGGCGAACGACCCTACTCC	0.612																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2458-2460)cGa>cAa		zinc finger protein 574		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	61.0	60.0		2459	4.8	1.0	19		60	0,8600		0,0,4300	no	missense	ZNF574	NM_022752.5	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	820/897	42585217	1,13005	2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585217G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2459G>A	19.37:g.42585217G>A	ENSP00000469029:p.Arg820Gln					ZNF574_ENST00000359044.4_Missense_Mutation_p.R820Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.R910Q	p.R820Q			Q6ZN55	ZN574_HUMAN			2	3114	+		Prostate(69;0.059)	820					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.2459G>A	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.059257|4.059257	0.76074|0.76074	2.27E-4|2.27E-4	0.0|0.0	ENSG00000105732|ENSG00000105732	ENST00000535775|ENST00000222339;ENST00000359044	.|T;T	.|0.19806	.|2.12;2.12	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.37945|0.37945	0.1022|0.1022	L|L	0.36672|0.36672	1.1|1.1	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.16100|0.16100	-1.0414|-1.0414	6|10	0.62326|0.72032	D|D	0.03|0.01	-14.4837|-14.4837	16.87|16.87	0.86038|0.86038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|820;909	.|Q6ZN55;Q6ZN55-2	.|ZN574_HUMAN;.	N|Q	427|910;820	.|ENSP00000222339:R910Q;ENSP00000351939:R820Q	ENSP00000445515:D427N|ENSP00000222339:R910Q	D|R	+|+	1|2	0|0	ZNF574|ZNF574	47277057|47277057	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.744000|0.744000	0.42396|0.42396	3.849000|3.849000	0.55910|0.55910	2.510000|2.510000	0.84645|0.84645	0.557000|0.557000	0.71058|0.71058	GAC|CGA		0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		16	30	0	0	0	1	0	16	30				
TFAP4	7023	broad.mit.edu	37	16	4322672	4322672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4322672C>A	ENST00000204517.6	-	1	404	c.76G>T	c.(76-78)Gga>Tga	p.G26*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	26					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGAGCCCTCCTATCACTTCT	0.622																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(76-78)Gga>Tga		transcription factor AP-4 (activating enhancer binding protein 4)							103.0	93.0	97.0					16																	4322672		2197	4300	6497	SO:0001587	stop_gained	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4322672C>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.76G>T	16.37:g.4322672C>A	ENSP00000204517:p.Gly26*						p.G26*	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			1	404	-			26					O60409	Nonsense_Mutation	SNP	ENST00000204517.6	37	c.76G>T	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	C	38	6.787840	0.97837	.	.	ENSG00000090447	ENST00000204517	.	.	.	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9595	0.79918	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000204517:G26X	G	-	1	0	TFAP4	4262673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.553000	0.73918	2.048000	0.60808	0.462000	0.41574	GGA		0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		6	18	1	0	3.59834e-05	1	4.01776e-05	6	18				
MAP3K12	7786	broad.mit.edu	37	12	53878923	53878923	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53878923G>T	ENST00000267079.2	-	7	1182	c.957C>A	c.(955-957)atC>atA	p.I319I	MAP3K12_ENST00000547035.1_Silent_p.I352I|MAP3K12_ENST00000547488.1_Silent_p.I352I|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACACCCCAGATAATGGCTG	0.552																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(955-957)atC>atA		mitogen-activated protein kinase kinase kinase 12							121.0	101.0	108.0					12																	53878923		2203	4300	6503	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53878923G>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.957C>A	12.37:g.53878923G>T						MAP3K12_ENST00000547488.1_Silent_p.I352I|MAP3K12_ENST00000547035.1_Silent_p.I352I	p.I319I	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			7	1182	-			319			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.957C>A	CCDS8860.1																																																																																				0.552	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		9	44	1	0	0.00448238	1	0.00472561	9	44				
TTLL3	26140	broad.mit.edu	37	3	9876506	9876506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9876506G>T	ENST00000547186.1	+	12	2054	c.1838G>T	c.(1837-1839)aGg>aTg	p.R613M	TTLL3_ENST00000426895.4_Missense_Mutation_p.R756M|TTLL3_ENST00000397241.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.R401M|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000455274.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	613					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGGCCTTGAGGACTCTACCC	0.592																																						ENST00000547186.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1837-1839)aGg>aTg		tubulin tyrosine ligase-like family, member 3							127.0	114.0	119.0					3																	9876506		2203	4300	6503	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9876506G>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1838G>T	3.37:g.9876506G>T	ENSP00000446659:p.Arg613Met					TTLL3_ENST00000426895.4_Missense_Mutation_p.R756M|TTLL3_ENST00000430793.1_Missense_Mutation_p.R401M|TTLL3_ENST00000383827.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR	p.R613M	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			12	2054	+	Medulloblastoma(99;0.227)		613					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.1838G>T		.	.	.	.	.	.	.	.	.	.	G	1.160	-0.644070	0.03531	.	.	ENSG00000214021	ENST00000426895;ENST00000547186;ENST00000443148;ENST00000430793	T;T;T;T	0.04234	3.8;3.91;3.85;3.67	3.96	0.126	0.14722	.	47.758700	0.00751	N	0.001079	T	0.02267	0.0070	N	0.01576	-0.805	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.35574	-0.9783	10	0.36615	T	0.2	.	5.001	0.14264	0.0:0.1008:0.37:0.5292	.	587;401;613	B4DM47;Q9Y4R7-5;Q9Y4R7	.;.;TTLL3_HUMAN	M	756;613;586;401	ENSP00000392549:R756M;ENSP00000446659:R613M;ENSP00000398097:R586M;ENSP00000403874:R401M	ENSP00000392549:R756M	R	+	2	0	TTLL3	9851506	1.000000	0.71417	0.998000	0.56505	0.265000	0.26407	0.574000	0.23714	0.022000	0.15160	-1.527000	0.00925	AGG		0.592	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		28	50	1	0	2.4375e-19	1	3.18921e-19	28	50				
MED13L	23389	broad.mit.edu	37	12	116418589	116418589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116418589G>A	ENST00000281928.3	-	23	5536	c.5330C>T	c.(5329-5331)gCa>gTa	p.A1777V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1777						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATGCTGGCTGCAGGCCCAAA	0.443																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5329-5331)gCa>gTa		mediator complex subunit 13-like							102.0	105.0	104.0					12																	116418589		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116418589G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5330C>T	12.37:g.116418589G>A	ENSP00000281928:p.Ala1777Val						p.A1777V	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	23	5536	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1777					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5330C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634917	0.67130	.	.	ENSG00000123066	ENST00000281928;ENST00000552340	D;D	0.84070	-1.8;-1.8	5.47	5.47	0.80525	.	0.058150	0.64402	D	0.000001	D	0.85287	0.5662	M	0.64170	1.965	0.80722	D	1	B	0.28291	0.206	B	0.37480	0.251	D	0.84275	0.0491	10	0.72032	D	0.01	.	19.3125	0.94195	0.0:0.0:1.0:0.0	.	1777	Q71F56	MD13L_HUMAN	V	1777;121	ENSP00000281928:A1777V;ENSP00000449876:A121V	ENSP00000281928:A1777V	A	-	2	0	MED13L	114902972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.831000	0.48144	2.557000	0.86248	0.585000	0.79938	GCA		0.443	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			35	100	0	0	0	1	0	35	100				
COA4	51287	broad.mit.edu	37	11	73584383	73584383	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73584383C>T	ENST00000355693.4	-	2	288	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	COA4_ENST00000537289.1_Missense_Mutation_p.R14Q|COA4_ENST00000541455.1_Missense_Mutation_p.R23Q|COA4_ENST00000545127.1_Missense_Mutation_p.R14Q|COA4_ENST00000537581.1_5'Flank	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	14						mitochondrion (GO:0005739)											TTTCTTCACCCGTTGGGTCCA	0.547																																						ENST00000541455.1																			0											c.(67-69)cGg>cAg		cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)							66.0	74.0	71.0					11																	73584383		2200	4293	6493	SO:0001583	missense	51287							g.chr11:73584383C>T	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.41G>A	11.37:g.73584383C>T	ENSP00000347919:p.Arg14Gln					COA4_ENST00000355693.4_Missense_Mutation_p.R14Q|COA4_ENST00000537289.1_Missense_Mutation_p.R14Q|COA4_ENST00000545127.1_Missense_Mutation_p.R14Q	p.R23Q							2	461	-								B2RAA0|Q69YU4	Missense_Mutation	SNP	ENST00000355693.4	37	c.68G>A	CCDS8225.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160663	0.01686	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	.	.	.	6.17	-2.03	0.07365	.	0.455201	0.24927	N	0.034483	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	8	0.08599	T	0.76	-0.3931	5.6892	0.17821	0.0:0.2297:0.4126:0.3577	.	14	Q9NYJ1	CHCH8_HUMAN	Q	14;14;23;14	.	ENSP00000347919:R14Q	R	-	2	0	CHCHD8	73262031	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	-0.336000	0.07863	-0.257000	0.09459	-1.073000	0.02249	CGG		0.547	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		29	53	0	0	0	1	0	29	53				
HAX1	10456	broad.mit.edu	37	1	154247708	154247708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154247708C>T	ENST00000328703.7	+	5	848	c.635C>T	c.(634-636)tCt>tTt	p.S212F	HAX1_ENST00000483970.2_Missense_Mutation_p.S220F|HAX1_ENST00000457918.2_Missense_Mutation_p.S164F|HAX1_ENST00000532105.1_Missense_Mutation_p.S84F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	212	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGAGCATCTCTGTGACCAAG	0.488									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(634-636)tCt>tTt		HCLS1 associated protein X-1							71.0	72.0	72.0					1																	154247708		2203	4300	6503	SO:0001583	missense	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154247708C>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.635C>T	1.37:g.154247708C>T	ENSP00000329002:p.Ser212Phe					HAX1_ENST00000532105.1_Missense_Mutation_p.S84F|HAX1_ENST00000457918.2_Missense_Mutation_p.S164F|HAX1_ENST00000483970.2_Missense_Mutation_p.S220F	p.S212F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	848	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		212			Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.635C>T	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201604	0.79015	.	.	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000435087;ENST00000532105	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.6	5.6	0.85130	.	0.415528	0.25233	N	0.032160	T	0.75554	0.3865	M	0.80183	2.485	0.45415	D	0.998392	D;D;D;D	0.67145	0.984;0.996;0.996;0.992	P;D;D;D	0.66351	0.879;0.943;0.943;0.918	T	0.78889	-0.2026	10	0.87932	D	0	-19.8327	16.3349	0.83056	0.0:1.0:0.0:0.0	.	220;186;164;212	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	F	212;164;220;216;84	ENSP00000329002:S212F;ENSP00000411448:S164F;ENSP00000435088:S220F;ENSP00000394920:S216F;ENSP00000433951:S84F	ENSP00000329002:S212F	S	+	2	0	HAX1	152514332	0.997000	0.39634	1.000000	0.80357	0.955000	0.61496	2.374000	0.44274	2.627000	0.88993	0.563000	0.77884	TCT		0.488	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		34	42	0	0	0	1	0	34	42				
FZD6	8323	broad.mit.edu	37	8	104342067	104342067	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104342067A>G	ENST00000358755.4	+	6	2043	c.1726A>G	c.(1726-1728)Act>Gct	p.T576A	FZD6_ENST00000523739.1_Missense_Mutation_p.T544A|FZD6_ENST00000540287.1_Missense_Mutation_p.T271A|FZD6_ENST00000522566.1_Missense_Mutation_p.T576A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	576					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGTAGCAATTACTAGCCATGA	0.463																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1726-1728)Act>Gct		frizzled family receptor 6							67.0	61.0	63.0					8																	104342067		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104342067A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1726A>G	8.37:g.104342067A>G	ENSP00000351605:p.Thr576Ala					FZD6_ENST00000540287.1_Missense_Mutation_p.T271A|FZD6_ENST00000522566.1_Missense_Mutation_p.T576A|FZD6_ENST00000523739.1_Missense_Mutation_p.T544A	p.T576A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		6	2043	+			576					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1726A>G	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	A	7.991	0.753196	0.15778	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.75154	-0.88;-0.88;-0.91;-0.84	5.54	0.567	0.17325	.	0.349499	0.31909	N	0.006880	T	0.48786	0.1519	N	0.14661	0.345	0.24350	N	0.99493	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.34279	-0.9835	10	0.02654	T	1	.	10.2284	0.43241	0.6532:0.0:0.3468:0.0	.	521;271;576	B4E236;F5H831;O60353	.;.;FZD6_HUMAN	A	576;576;544;271;521	ENSP00000429055:T576A;ENSP00000351605:T576A;ENSP00000429528:T544A;ENSP00000443757:T271A	ENSP00000351605:T576A	T	+	1	0	FZD6	104411243	0.989000	0.36119	0.768000	0.31515	0.863000	0.49368	1.468000	0.35332	0.154000	0.19237	0.533000	0.62120	ACT		0.463	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		4	31	0	0	0	1	0	4	31				
SARDH	1757	broad.mit.edu	37	9	136531992	136531992	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136531992G>A	ENST00000371872.4	-	20	2753	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	SARDH_ENST00000422262.2_Splice_Site_p.D664D|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Splice_Site_p.D832D|SARDH_ENST00000371868.1_Silent_p.S282S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	832					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGTACTTTGCTGGAAGAAG	0.617																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.e20-1		sarcosine dehydrogenase							34.0	33.0	34.0					9																	136531992		2202	4298	6500	SO:0001630	splice_region_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136531992G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2496-1C>T	9.37:g.136531992G>A						SARDH_ENST00000422262.2_Splice_Site_p.D664_splice|SARDH_ENST00000371868.1_Silent_p.S282S|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Splice_Site_p.D832_splice	p.D832_splice	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	20	2753	-			832					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Splice_Site	SNP	ENST00000371872.4	37	c.2495_splice	CCDS6978.1																																																																																				0.617	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		Silent	4	4	0	0	0	1	0	4	4				
DBF4	10926	broad.mit.edu	37	7	87536982	87536982	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536982C>A	ENST00000265728.1	+	12	2033	c.1529C>A	c.(1528-1530)aCt>aAt	p.T510N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	510					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAGTCAGATACTGTGCTTTTT	0.363																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(1528-1530)aCt>aAt		DBF4 homolog (S. cerevisiae)							83.0	81.0	82.0					7																	87536982		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536982C>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1529C>A	7.37:g.87536982C>A	ENSP00000265728:p.Thr510Asn						p.T510N	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			12	2033	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	510					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1529C>A	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	C	3.240	-0.155660	0.06544	.	.	ENSG00000006634	ENST00000265728	T	0.30981	1.51	5.44	-2.23	0.06930	.	0.696409	0.13977	N	0.349785	T	0.14227	0.0344	L	0.29908	0.895	0.09310	N	1	B;P	0.34462	0.09;0.454	B;B	0.27380	0.063;0.079	T	0.12477	-1.0546	10	0.51188	T	0.08	-0.0813	1.9346	0.03334	0.1653:0.3672:0.0946:0.3729	.	286;510	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	N	510	ENSP00000265728:T510N	ENSP00000265728:T510N	T	+	2	0	DBF4	87374918	0.000000	0.05858	0.006000	0.13384	0.460000	0.32559	-0.559000	0.05971	-0.098000	0.12285	-0.797000	0.03246	ACT		0.363	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		29	92	1	0	2.12542e-12	1	2.67336e-12	29	92				
BMP10	27302	broad.mit.edu	37	2	69093135	69093135	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093135C>T	ENST00000295379.1	-	2	1061	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	301					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTGATCTCATCTGCAACAAAG	0.483																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(901-903)caG>caA		bone morphogenetic protein 10							111.0	103.0	105.0					2																	69093135		2203	4300	6503	SO:0001819	synonymous_variant	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093135C>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.903G>A	2.37:g.69093135C>T							p.Q301Q	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1061	-			301					Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	c.903G>A	CCDS1890.1																																																																																				0.483	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		16	19	0	0	0	1	0	16	19				
TAGLN3	29114	broad.mit.edu	37	3	111732374	111732374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111732374C>T	ENST00000393917.2	+	5	1128	c.576C>T	c.(574-576)taC>taT	p.Y192Y	TAGLN3_ENST00000273368.4_Silent_p.Y192Y|TAGLN3_ENST00000478951.1_Silent_p.Y192Y|TAGLN3_ENST00000455401.2_Silent_p.Y192Y|TAGLN3_ENST00000486460.1_Silent_p.Y108Y	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	192					central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TGACAGGGTACGGGATGCCCA	0.567											OREG0015708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(574-576)taC>taT		transgelin 3							65.0	64.0	64.0					3																	111732374		2203	4300	6503	SO:0001819	synonymous_variant	29114				central nervous system development|muscle organ development			g.chr3:111732374C>T	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.576C>T	3.37:g.111732374C>T			OREG0015708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	TAGLN3_ENST00000455401.2_Silent_p.Y192Y|TAGLN3_ENST00000273368.4_Silent_p.Y192Y|TAGLN3_ENST00000478951.1_Silent_p.Y192Y|TAGLN3_ENST00000486460.1_Silent_p.Y108Y	p.Y192Y	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN			5	1128	+			192					D3DN64|Q96A74	Silent	SNP	ENST00000393917.2	37	c.576C>T	CCDS33816.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480354	0.26598	.	.	ENSG00000144834	ENST00000494932	.	.	.	5.35	1.94	0.25998	.	.	.	.	.	T	0.61060	0.2317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59910	-0.7365	5	0.59425	D	0.04	0.4175	7.4915	0.27464	0.0:0.5332:0.0:0.4668	.	.	.	.	W	100	.	ENSP00000420675:R100W	R	+	1	2	TAGLN3	113215064	0.139000	0.22563	1.000000	0.80357	0.938000	0.57974	-0.514000	0.06298	0.563000	0.29222	-0.424000	0.05967	CGG		0.567	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		25	41	0	0	0	1	0	25	41				
SCAI	286205	broad.mit.edu	37	9	127765751	127765751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127765751C>T	ENST00000336505.6	-	10	1018	c.960G>A	c.(958-960)atG>atA	p.M320I	SCAI_ENST00000373549.4_Missense_Mutation_p.M343I|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	320					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AGATTACCTGCATTCCTGGTT	0.423																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(958-960)atG>atA		suppressor of cancer cell invasion							108.0	102.0	104.0					9																	127765751		1894	4130	6024	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765751C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.960G>A	9.37:g.127765751C>T	ENSP00000336756:p.Met320Ile					SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.M343I	p.M320I	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			10	1018	-			320					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.960G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221323	0.22457	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41065	1.01;1.01	4.76	3.85	0.44370	.	0.304858	0.39759	N	0.001261	T	0.23289	0.0563	N	0.12887	0.27	0.26988	N	0.965205	B;B	0.13145	0.005;0.007	B;B	0.09377	0.004;0.004	T	0.13255	-1.0516	10	0.20046	T	0.44	-5.9481	11.448	0.50136	0.0:0.9104:0.0:0.0896	.	320;343	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	I	320;343	ENSP00000336756:M320I;ENSP00000362650:M343I	ENSP00000336756:M320I	M	-	3	0	SCAI	126805572	0.999000	0.42202	1.000000	0.80357	0.930000	0.56654	0.647000	0.24812	1.094000	0.41399	0.462000	0.41574	ATG		0.423	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		4	46	0	0	0	1	0	4	46				
SGOL2	151246	broad.mit.edu	37	2	201434397	201434397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201434397C>A	ENST00000357799.4	+	6	583	c.485C>A	c.(484-486)aCt>aAt	p.T162N	SGOL2_ENST00000409203.3_Missense_Mutation_p.T162N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	162					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTTCCATTAACTTCAAATGAT	0.308																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(484-486)aCt>aAt		shugoshin-like 2 (S. pombe)							79.0	72.0	75.0					2																	201434397		1861	4080	5941	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201434397C>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.485C>A	2.37:g.201434397C>A	ENSP00000350447:p.Thr162Asn					SGOL2_ENST00000409203.3_Missense_Mutation_p.T162N	p.T162N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			6	583	+			162					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.485C>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868435	0.51588	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.25579	1.79;1.79	5.31	3.45	0.39498	.	0.740013	0.12789	N	0.438980	T	0.42787	0.1218	M	0.61703	1.905	0.23693	N	0.997092	P;P;P;D	0.69078	0.603;0.603;0.603;0.997	P;P;P;P	0.58266	0.497;0.497;0.497;0.836	T	0.22765	-1.0207	10	0.66056	D	0.02	-1.1141	11.8957	0.52656	0.0:0.6615:0.3385:0.0	.	162;162;162;162	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	N	162	ENSP00000350447:T162N;ENSP00000386249:T162N	ENSP00000350447:T162N	T	+	2	0	SGOL2	201142642	1.000000	0.71417	0.994000	0.49952	0.571000	0.35966	1.235000	0.32671	0.745000	0.32763	0.585000	0.79938	ACT		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		14	20	1	0	0.0202918	1	0.0209785	14	20				
C9orf156	51531	broad.mit.edu	37	9	100672556	100672556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100672556G>A	ENST00000375119.3	-	4	828	c.752C>T	c.(751-753)gCa>gTa	p.A251V	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	251					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAAATCCACTGCTATCTCCCT	0.443																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(751-753)gCa>gTa		chromosome 9 open reading frame 156							190.0	175.0	180.0					9																	100672556		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100672556G>A	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.752C>T	9.37:g.100672556G>A	ENSP00000364260:p.Ala251Val					C9orf156_ENST00000478126.1_5'UTR	p.A251V	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			4	828	-		Acute lymphoblastic leukemia(62;0.158)	251					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.752C>T	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	G	7.243	0.601750	0.13939	.	.	ENSG00000136932	ENST00000375119;ENST00000375118;ENST00000325350	T;T	0.35605	1.74;1.3	5.03	3.19	0.36642	Uncharacterised domain UPF0066, YaeB-like domain (1);	0.576301	0.18763	N	0.131830	T	0.24275	0.0588	L	0.38838	1.175	0.09310	N	1	B;B;B	0.20261	0.027;0.043;0.0	B;B;B	0.17979	0.02;0.017;0.001	T	0.24083	-1.0170	10	0.12430	T	0.62	-3.2276	8.4834	0.33057	0.1716:0.0:0.8284:0.0	.	148;105;251	Q6Y2L2;Q5T114;Q9BU70	.;.;NAP1_HUMAN	V	251;105;148	ENSP00000364260:A251V;ENSP00000364259:A105V	ENSP00000324426:A148V	A	-	2	0	C9orf156	99712377	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	0.489000	0.22387	0.644000	0.30656	0.563000	0.77884	GCA		0.443	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		11	113	0	0	0	1	0	11	113				
USP9X	8239	broad.mit.edu	37	X	41027339	41027339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41027339G>A	ENST00000324545.8	+	18	3137	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D	USP9X_ENST00000378308.2_Missense_Mutation_p.G835D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	835					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGGATGGTGACAAAGAC	0.373																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2503-2505)gGt>gAt		ubiquitin specific peptidase 9, X-linked							170.0	153.0	158.0					X																	41027339		2108	4263	6371	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41027339G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2504G>A	X.37:g.41027339G>A	ENSP00000316357:p.Gly835Asp					USP9X_ENST00000378308.2_Missense_Mutation_p.G835D	p.G835D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			18	3137	+			835					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2504G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053779	0.75960	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02916	4.11;4.11	5.39	5.39	0.77823	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.02119	0.0066	N	0.05199	-0.095	0.80722	D	1	B;B	0.22983	0.063;0.078	B;B	0.24701	0.055;0.035	T	0.57142	-0.7862	10	0.10636	T	0.68	.	18.2182	0.89893	0.0:0.0:1.0:0.0	.	835;835	Q93008-1;Q93008	.;USP9X_HUMAN	D	835	ENSP00000367558:G835D;ENSP00000316357:G835D	ENSP00000316357:G835D	G	+	2	0	USP9X	40912283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.756000	0.98918	2.240000	0.73641	0.506000	0.49869	GGT		0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		45	89	0	0	0	1	0	45	89				
ABI3BP	25890	broad.mit.edu	37	3	100489769	100489769	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489769G>T	ENST00000284322.5	-	29	2535	c.2426C>A	c.(2425-2427)cCt>cAt	p.P809H	ABI3BP_ENST00000471714.1_Missense_Mutation_p.P1511H|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P763H	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	809					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTGTTGTCAGGCTTTTGGAT	0.488																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4531-4533)cCt>cAt		ABI family, member 3 (NESH) binding protein							171.0	173.0	172.0					3																	100489769		1974	4176	6150	SO:0001583	missense	25890					extracellular space		g.chr3:100489769G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2426C>A	3.37:g.100489769G>T	ENSP00000284322:p.Pro809His					ABI3BP_ENST00000383691.4_Missense_Mutation_p.P763H|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P809H	p.P1511H			Q7Z7G0	TARSH_HUMAN			61	4641	-			809					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4532C>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.056990|4.056990	0.76074|0.76074	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.24723	.|2.17;1.84;1.84	5.98|5.98	5.08|5.08	0.68730|0.68730	.|.	.|0.347229	.|0.34110	.|N	.|0.004248	T|T	0.42832|0.42832	0.1220|0.1220	L|L	0.44542|0.44542	1.39|1.39	0.44104|0.44104	D|D	0.996872|0.996872	.|D;D;D;D	.|0.89917	.|1.0;0.997;0.997;1.0	.|D;D;D;D	.|0.72982	.|0.962;0.959;0.966;0.979	T|T	0.32561|0.32561	-0.9902|-0.9902	5|10	.|0.62326	.|D	.|0.03	-4.9446|-4.9446	14.2653|14.2653	0.66113|0.66113	0.0:0.0:0.6762:0.3238|0.0:0.0:0.6762:0.3238	.|.	.|763;809;1511;518	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	M|H	865|1511;809;518;220;763;221	.|ENSP00000420524:P1511H;ENSP00000284322:P809H;ENSP00000373189:P763H	.|ENSP00000284322:P809H	L|P	-|-	1|2	2|0	ABI3BP|ABI3BP	101972459|101972459	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.910000|0.910000	0.53928|0.53928	3.699000|3.699000	0.54778|0.54778	1.472000|1.472000	0.48140|0.48140	0.591000|0.591000	0.81541|0.81541	CTG|CCT		0.488	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			6	80	1	0	3.59834e-05	1	4.01776e-05	6	80				
RAI1	10743	broad.mit.edu	37	17	17700973	17700973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17700973G>A	ENST00000353383.1	+	3	5180	c.4711G>A	c.(4711-4713)Gca>Aca	p.A1571T	RAI1_ENST00000261641.6_Missense_Mutation_p.A1571T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1571					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGGATCCCGCAGAGCCTGA	0.642																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4711-4713)Gca>Aca		retinoic acid induced 1							52.0	61.0	58.0					17																	17700973		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700973G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4711G>A	17.37:g.17700973G>A	ENSP00000323074:p.Ala1571Thr					RAI1_ENST00000261641.6_Missense_Mutation_p.A1571T	p.A1571T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5180	+			1571					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4711G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554772	0.45487	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.67171	-0.25;0.3	4.73	4.73	0.59995	.	0.252187	0.34906	N	0.003594	T	0.62829	0.2460	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	P	0.53450	0.726	T	0.55335	-0.8157	10	0.33141	T	0.24	.	11.3679	0.49684	0.0849:0.0:0.9151:0.0	.	1571	Q7Z5J4	RAI1_HUMAN	T	1571;1571;1571;1459	ENSP00000323074:A1571T;ENSP00000261641:A1571T	ENSP00000261641:A1571T	A	+	1	0	RAI1	17641698	0.002000	0.14202	0.796000	0.32109	0.782000	0.44232	1.045000	0.30341	2.621000	0.88768	0.561000	0.74099	GCA		0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		33	49	0	0	0	1	0	33	49				
CD3D	915	broad.mit.edu	37	11	118211282	118211282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118211282C>T	ENST00000300692.4	-	2	218	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CD3D_ENST00000529594.1_Intron|CD3D_ENST00000392884.2_Missense_Mutation_p.E28K	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	28					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCCTCAAGTTCCTCTATAGGT	0.478																																						ENST00000300692.4																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9						c.(82-84)Gaa>Aaa		CD3d molecule, delta (CD3-TCR complex)							107.0	86.0	93.0					11																	118211282		2200	4296	6496	SO:0001583	missense	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118211282C>T	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.82G>A	11.37:g.118211282C>T	ENSP00000300692:p.Glu28Lys					CD3D_ENST00000392884.2_Missense_Mutation_p.E28K|CD3D_ENST00000529594.1_Intron	p.E28K	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	218	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	28					A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.82G>A	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.537215|4.537215	0.85812|0.85812	.|.	.|.	ENSG00000167286|ENSG00000167286	ENST00000300692;ENST00000392884|ENST00000534687	T;T|.	0.69926|.	-0.44;0.49|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Immunoglobulin-like fold (1);|.	0.238390|.	0.44483|.	D|.	0.000448|.	T|T	0.69296|0.69296	0.3095|0.3095	M|M	0.82323|0.82323	2.585|2.585	0.28188|0.28188	N|N	0.927884|0.927884	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.65899|0.65899	-0.6056|-0.6056	10|5	0.09590|.	T|.	0.72|.	-25.3663|-25.3663	14.4703|14.4703	0.67512|0.67512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28|.	A8MVP6;P04234|.	.;CD3D_HUMAN|.	K|E	28|32	ENSP00000300692:E28K;ENSP00000376622:E28K|.	ENSP00000300692:E28K|.	E|G	-|-	1|2	0|0	CD3D|CD3D	117716492|117716492	0.867000|0.867000	0.29959|0.29959	0.120000|0.120000	0.21714|0.21714	0.249000|0.249000	0.25844|0.25844	3.347000|3.347000	0.52200|0.52200	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.478	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		11	23	0	0	0	1	0	11	23				
OR6N1	128372	broad.mit.edu	37	1	158735969	158735969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158735969G>T	ENST00000335094.2	-	1	523	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGGGCCACAGAATGGGAGGC	0.478																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(502-504)ttC>ttA		olfactory receptor, family 6, subfamily N, member 1							81.0	84.0	83.0					1																	158735969		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735969G>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.504C>A	1.37:g.158735969G>T	ENSP00000335535:p.Phe168Leu						p.F168L	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	523	-	all_hematologic(112;0.0378)		168					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.504C>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050027	0.55218	.	.	ENSG00000197403	ENST00000335094	T	0.00039	8.85	4.78	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000187	T	0.00178	0.0005	M	0.76433	2.335	0.32988	D	0.52458	D	0.76494	0.999	D	0.85130	0.997	T	0.54497	-0.8285	10	0.52906	T	0.07	-30.0644	6.5382	0.22365	0.4822:0.0:0.5178:0.0	.	168	Q8NGY5	OR6N1_HUMAN	L	168	ENSP00000335535:F168L	ENSP00000335535:F168L	F	-	3	2	OR6N1	157002593	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	1.768000	0.38511	0.296000	0.22592	0.655000	0.94253	TTC		0.478	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		28	46	1	0	3.1745e-13	1	4.02314e-13	28	46				
CCDC57	284001	broad.mit.edu	37	17	80136450	80136450	+	Missense_Mutation	SNP	G	G	A	rs573980729		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80136450G>A	ENST00000389641.4	-	10	1442	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.A469V|CCDC57_ENST00000392343.3_Missense_Mutation_p.A469V			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	469										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTCCTGTAGCGCCTGCTCTGT	0.647													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18396	0.0		0.0	False		,,,				2504	0.0					ENST00000389641.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1405-1407)gCg>gTg		coiled-coil domain containing 57							44.0	51.0	49.0					17																	80136450		2162	4247	6409	SO:0001583	missense	284001							g.chr17:80136450G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1406C>T	17.37:g.80136450G>A	ENSP00000374292:p.Ala469Val					CCDC57_ENST00000392343.3_Missense_Mutation_p.A469V|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.A469V	p.A469V			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		10	1442	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		469					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1406C>T		.	.	.	.	.	.	.	.	.	.	g	10.59	1.392985	0.25118	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.23754	3.06;3.06;1.89	4.5	-8.42	0.00957	.	1.356760	0.04761	N	0.426221	T	0.13329	0.0323	L	0.36672	1.1	0.09310	N	1	B;B	0.24675	0.04;0.109	B;B	0.13407	0.005;0.009	T	0.20571	-1.0271	10	0.41790	T	0.15	-0.001	0.6112	0.00761	0.3791:0.245:0.1626:0.2134	.	469;469	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	V	469	ENSP00000374292:A469V;ENSP00000376158:A469V;ENSP00000376154:A469V	ENSP00000374292:A469V	A	-	2	0	CCDC57	77729739	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.980000	0.03770	-1.235000	0.02545	-0.119000	0.15052	GCG		0.647	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		9	17	0	0	0	1	0	9	17				
DPP4	1803	broad.mit.edu	37	2	162903928	162903928	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:162903928A>G	ENST00000360534.3	-	3	738	c.178T>C	c.(178-180)Tta>Cta	p.L60L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	60					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATCCATCTTAAGGAGTATAAC	0.368																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(178-180)Tta>Cta		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						75.0	79.0	77.0					2																	162903928		2203	4299	6502	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162903928A>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.178T>C	2.37:g.162903928A>G							p.L60L	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			3	738	-			60					Q53TN1	Silent	SNP	ENST00000360534.3	37	c.178T>C	CCDS2216.1																																																																																				0.368	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			16	35	0	0	0	1	0	16	35				
ATF6	22926	broad.mit.edu	37	1	161789436	161789436	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161789436G>T	ENST00000367942.3	+	8	990	c.923G>T	c.(922-924)aGg>aTg	p.R308M		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	308	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	GCTGTGCTAAGGAGACAGCAA	0.343																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(922-924)aGg>aTg		activating transcription factor 6							53.0	55.0	54.0					1																	161789436		2202	4300	6502	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161789436G>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.923G>T	1.37:g.161789436G>T	ENSP00000356919:p.Arg308Met						p.R308M	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	990	+	all_hematologic(112;0.156)		308					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.923G>T	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563325	0.65651	.	.	ENSG00000118217	ENST00000367942	D	0.92752	-3.1	5.19	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.105412	0.64402	D	0.000007	D	0.96037	0.8709	M	0.93898	3.47	0.51767	D	0.999930	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	D	0.96924	0.9676	9	0.87932	D	0	-13.2839	11.5175	0.50532	0.0877:0.0:0.9123:0.0	.	308;309	P18850;Q59H30	ATF6A_HUMAN;.	M	308	ENSP00000356919:R308M	ENSP00000356919:R308M	R	+	2	0	ATF6	160056060	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.367000	0.66127	1.182000	0.42928	0.650000	0.86243	AGG		0.343	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		15	63	1	0	1.02788e-11	1	1.28409e-11	15	63				
PPP2R2A	5520	broad.mit.edu	37	8	26221333	26221333	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26221333T>C	ENST00000380737.3	+	8	1228	c.899T>C	c.(898-900)aTg>aCg	p.M300T	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M310T	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	300					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGTCGATATATGATGACTAGA	0.363																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(898-900)aTg>aCg		protein phosphatase 2, regulatory subunit B, alpha							118.0	125.0	123.0					8																	26221333		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26221333T>C	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.899T>C	8.37:g.26221333T>C	ENSP00000370113:p.Met300Thr					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M310T	p.M300T	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	8	1228	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.899T>C	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645681	0.67358	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.70986	1.56;-0.53;1.56	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.75708	0.3886	M	0.80847	2.515	0.80722	D	1	B;P;P	0.35872	0.28;0.519;0.525	B;B;B	0.38156	0.266;0.135;0.22	T	0.78723	-0.2093	10	0.87932	D	0	-13.8931	16.5582	0.84512	0.0:0.0:0.0:1.0	.	310;300;301	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	T	300;79;310	ENSP00000370113:M300T;ENSP00000430320:M79T;ENSP00000325074:M310T	ENSP00000325074:M310T	M	+	2	0	PPP2R2A	26277250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	ATG		0.363	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		25	54	0	0	0	1	0	25	54				
DGKK	139189	broad.mit.edu	37	X	50119030	50119030	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50119030G>T	ENST00000376025.2	-	0	3465							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TACTTCAATGGGAATACAGGA	0.463																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							59.0	53.0	55.0					X																	50119030		1974	4138	6112			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119030G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119030G>T										Q5KSL6	DGKK_HUMAN			0	3465	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.463	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		15	29	1	0	7.81268e-19	1	1.02077e-18	15	29				
DHRS11	79154	broad.mit.edu	37	17	34954662	34954662	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34954662A>G	ENST00000251312.5	+	3	640	c.428A>G	c.(427-429)gAt>gGt	p.D143G	DHRS11_ENST00000590554.1_Missense_Mutation_p.D64G	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	143						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						AATGTGGACGATGGGCACATC	0.577																																						ENST00000251312.5																			0				endometrium(1)|lung(4)	5						c.(427-429)gAt>gGt		dehydrogenase/reductase (SDR family) member 11							182.0	132.0	149.0					17																	34954662		2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34954662A>G		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.428A>G	17.37:g.34954662A>G	ENSP00000251312:p.Asp143Gly					DHRS11_ENST00000590554.1_Missense_Mutation_p.D64G	p.D143G	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN			3	640	+			143					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.428A>G	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834106	0.91036	.	.	ENSG00000108272	ENST00000251312	D	0.86694	-2.16	5.26	5.26	0.73747	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	L	0.31371	0.925	0.80722	D	1	B	0.32620	0.378	B	0.40228	0.323	D	0.83861	0.0268	10	0.52906	T	0.07	-18.5696	14.3657	0.66805	1.0:0.0:0.0:0.0	.	143	Q6UWP2	DHR11_HUMAN	G	143	ENSP00000251312:D143G	ENSP00000251312:D143G	D	+	2	0	DHRS11	32028775	1.000000	0.71417	0.887000	0.34795	0.968000	0.65278	8.674000	0.91191	1.999000	0.58509	0.459000	0.35465	GAT		0.577	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		33	58	0	0	0	1	0	33	58				
LRP6	4040	broad.mit.edu	37	12	12397304	12397304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12397304G>T	ENST00000261349.4	-	2	417	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	LRP6_ENST00000543091.1_Missense_Mutation_p.S114Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	114	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTAGTTTCAGAATCTGTCCA	0.393																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(340-342)tCt>tAt		low density lipoprotein receptor-related protein 6							79.0	78.0	78.0					12																	12397304		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397304G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.341C>A	12.37:g.12397304G>T	ENSP00000261349:p.Ser114Tyr					LRP6_ENST00000543091.1_Missense_Mutation_p.S114Y	p.S114Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	417	-		Prostate(47;0.0865)	114			Beta-propeller 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.341C>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323882	0.81580	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.84370	-1.84;-1.84	5.05	5.05	0.67936	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	U	0.000091	D	0.92476	0.7611	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91403	0.5145	10	0.36615	T	0.2	.	18.6095	0.91279	0.0:0.0:1.0:0.0	.	114;114	F5H7J9;O75581	.;LRP6_HUMAN	Y	114	ENSP00000261349:S114Y;ENSP00000442472:S114Y	ENSP00000261349:S114Y	S	-	2	0	LRP6	12288571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.631000	0.89168	0.467000	0.42956	TCT		0.393	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			4	52	1	0	0.014758	1	0.0152625	4	52				
MIR506	574511	broad.mit.edu	37	X	146312538	146312538	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:146312538A>T	ENST00000384998.1	-	0	0				MIR507_ENST00000385234.1_RNA	NR_030233.1				microRNA 506																		AAAAGGTGCAAAACATATTTC	0.438																																						ENST00000385234.1																			0																				239.0	195.0	208.0					X																	146312538		1568	3582	5150			0							g.chrX:146312538A>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000207731	ENSG00000207731		"""ncRNAs / Micro RNAs"""	32143	non-coding RNA	RNA, micro		300877		MIRN506			Standard	NR_030233		Approved	hsa-mir-506	uc022cfu.1				X.37:g.146312538A>T								NR_030234.1						0	57	-									RNA	SNP	ENST00000384998.1	37																																																																																						0.438	MIR506-201	KNOWN	basic	miRNA	miRNA		NR_030233		17	191	0	0	0	1	0	17	191				
FASN	2194	broad.mit.edu	37	17	80045217	80045217	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045217C>T	ENST00000306749.2	-	20	3425	c.3207G>A	c.(3205-3207)ctG>ctA	p.L1069L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1069					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTTGTCCTGCAGTGTGTACA	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3205-3207)ctG>ctA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						105.0	77.0	86.0					17																	80045217		2199	4297	6496	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045217C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3207G>A	17.37:g.80045217C>T							p.L1069L	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		20	3425	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1069					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.3207G>A	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		10	21	0	0	0	1	0	10	21				
ABCC1	4363	broad.mit.edu	37	16	16146596	16146596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16146596G>A	ENST00000399410.3	+	11	1571	c.1396G>A	c.(1396-1398)Gtc>Atc	p.V466I	ABCC1_ENST00000399408.2_Missense_Mutation_p.V466I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V466I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V466I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V466I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V466I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	466	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGCCCTTCCGTCCTGGCTGG	0.557																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1396-1398)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						122.0	126.0	125.0					16																	16146596		2113	4220	6333	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16146596G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1396G>A	16.37:g.16146596G>A	ENSP00000382342:p.Val466Ile					ABCC1_ENST00000345148.5_Missense_Mutation_p.V466I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V466I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V466I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V466I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V466I	p.V466I			P33527	MRP1_HUMAN			11	1571	+			466			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1396G>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525095	0.27299	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.12	-0.27	0.12926	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.242826	0.40908	N	0.000989	D	0.85173	0.5636	L	0.47078	1.49	0.35754	D	0.819686	B;B;B;P;B;P;P	0.45672	0.141;0.025;0.31;0.862;0.025;0.864;0.835	B;B;B;B;B;P;B	0.44518	0.018;0.018;0.103;0.267;0.018;0.452;0.323	T	0.83168	-0.0095	10	0.45353	T	0.12	-21.6204	12.4126	0.55476	0.2352:0.0:0.7648:0.0	.	466;466;466;466;466;466;466	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	I	466;466;466;466;466;466;140	ENSP00000382342:V466I;ENSP00000382340:V466I;ENSP00000263019:V466I;ENSP00000263017:V466I;ENSP00000263014:V466I;ENSP00000263016:V466I	ENSP00000263014:V466I	V	+	1	0	ABCC1	16054097	1.000000	0.71417	0.006000	0.13384	0.018000	0.09664	4.626000	0.61269	-0.545000	0.06224	-1.564000	0.00881	GTC		0.557	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		29	29	0	0	0	1	0	29	29				
DAB2IP	153090	broad.mit.edu	37	9	124522547	124522547	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124522547C>T	ENST00000408936.3	+	6	1181	c.999C>T	c.(997-999)cgC>cgT	p.R333R	DAB2IP_ENST00000309989.1_Silent_p.R209R|DAB2IP_ENST00000259371.2_Silent_p.R305R			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	333					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCAAGGCGCGCTACCAAACCA	0.632																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(997-999)cgC>cgT		DAB2 interacting protein							94.0	69.0	77.0					9																	124522547		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522547C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.999C>T	9.37:g.124522547C>T						DAB2IP_ENST00000259371.2_Silent_p.R305R|DAB2IP_ENST00000309989.1_Silent_p.R209R	p.R333R			Q5VWQ8	DAB2P_HUMAN			6	1181	+			333					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.999C>T																																																																																					0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		9	18	0	0	0	1	0	9	18				
KIF13A	63971	broad.mit.edu	37	6	17788044	17788044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17788044G>A	ENST00000259711.6	-	27	3429	c.3324C>T	c.(3322-3324)taC>taT	p.Y1108Y	KIF13A_ENST00000378826.2_Silent_p.Y1108Y|KIF13A_ENST00000378816.5_Silent_p.Y1108Y|KIF13A_ENST00000378814.5_Silent_p.Y1095Y|KIF13A_ENST00000378843.2_Silent_p.Y1095Y	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1108					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTCATCCAGGTATTCTCGTC	0.398																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3283-3285)taC>taT		kinesin family member 13A							323.0	296.0	305.0					6																	17788044		1895	4123	6018	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17788044G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3324C>T	6.37:g.17788044G>A						KIF13A_ENST00000259711.6_Silent_p.Y1108Y|KIF13A_ENST00000378843.2_Silent_p.Y1095Y|KIF13A_ENST00000378816.5_Silent_p.Y1108Y|KIF13A_ENST00000378826.2_Silent_p.Y1108Y	p.Y1095Y	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		26	3284	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1108					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.3285C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	9.032	0.987552	0.18966	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.9	4.85	0.62838	.	.	.	.	.	T	0.65123	0.2661	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62305	-0.6882	4	.	.	.	.	15.9437	0.79776	0.0747:0.0:0.9253:0.0	.	.	.	.	I	502	.	.	T	-	2	0	KIF13A	17896023	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.572000	0.60886	2.793000	0.96121	0.563000	0.77884	ACC		0.398	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			50	66	0	0	0	1	0	50	66				
GPR143	4935	broad.mit.edu	37	X	9727379	9727379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9727379C>T	ENST00000467482.1	-	3	594	c.448G>A	c.(448-450)Gga>Aga	p.G150R	GPR143_ENST00000380929.2_Missense_Mutation_p.G170R			P51810	GP143_HUMAN	G protein-coupled receptor 143	150					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TACCTCAGTCCTGCCGATCTC	0.468																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(448-450)Gga>Aga		G protein-coupled receptor 143							67.0	45.0	52.0					X																	9727379		2203	4296	6499	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9727379C>T	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.448G>A	X.37:g.9727379C>T	ENSP00000417161:p.Gly150Arg					GPR143_ENST00000380929.2_Missense_Mutation_p.G170R	p.G150R			P51810	GP143_HUMAN			3	594	-		Hepatocellular(5;0.000888)	150					Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.448G>A	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.99|16.99	3.272951|3.272951	0.59649|0.59649	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99527|.	-6.09;-6.09;-6.09|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75649|0.75649	0.3878|0.3878	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.70935|.	0.971|.	T|T	0.77651|0.77651	-0.2508|-0.2508	10|5	0.18710|.	T|.	0.47|.	-15.2336|-15.2336	15.6253|15.6253	0.76851|0.76851	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150|.	P51810|.	GP143_HUMAN|.	R|K	150;170;66|85	ENSP00000417161:G150R;ENSP00000370316:G170R;ENSP00000406138:G66R|.	ENSP00000370316:G170R|.	G|R	-|-	1|2	0|0	GPR143|GPR143	9687379|9687379	1.000000|1.000000	0.71417|0.71417	0.644000|0.644000	0.29465|0.29465	0.174000|0.174000	0.22865|0.22865	6.515000|6.515000	0.73751|0.73751	1.930000|1.930000	0.55929|0.55929	0.429000|0.429000	0.28392|0.28392	GGA|AGG		0.468	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		4	1	0	0	0	1	0	4	1				
MMP19	4327	broad.mit.edu	37	12	56236156	56236156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56236156C>T	ENST00000322569.4	-	2	245	c.154G>A	c.(154-156)Gat>Aat	p.D52N	MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000548629.1_Missense_Mutation_p.D52N|MMP19_ENST00000409200.3_Missense_Mutation_p.D52N	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	52					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D52Y(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TCGGTGATATCTTCTGGCTTG	0.488																																						ENST00000322569.4																			1	Substitution - Missense(1)	p.D52Y(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(154-156)Gat>Aat		matrix metallopeptidase 19							167.0	132.0	144.0					12																	56236156		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56236156C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.154G>A	12.37:g.56236156C>T	ENSP00000313437:p.Asp52Asn					MMP19_ENST00000548629.1_Missense_Mutation_p.D52N|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000409200.3_Missense_Mutation_p.D52N	p.D52N	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN			2	245	-			52					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.154G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237515	0.95240	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.35421	1.31;1.31;1.31	6.08	6.08	0.98989	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.170909	0.49305	D	0.000146	T	0.49253	0.1546	L	0.39566	1.225	0.80722	D	1	D;P	0.61697	0.99;0.684	P;B	0.62491	0.903;0.425	T	0.10222	-1.0639	10	0.19590	T	0.45	.	19.4349	0.94788	0.0:1.0:0.0:0.0	.	52;52	B4E030;Q99542	.;MMP19_HUMAN	N	52	ENSP00000313437:D52N;ENSP00000446979:D52N;ENSP00000386625:D52N	ENSP00000313437:D52N	D	-	1	0	MMP19	54522423	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	4.839000	0.62810	2.894000	0.99253	0.655000	0.94253	GAT		0.488	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		36	53	0	0	0	1	0	36	53				
BRCA2	675	broad.mit.edu	37	13	32906451	32906451	+	Missense_Mutation	SNP	G	G	A	rs431825364		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32906451G>A	ENST00000380152.3	+	10	1069	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.C279Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	279					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAAATAGCTGCAAAGACCAC	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(835-837)tGc>tAc	Homologous recombination	breast cancer 2, early onset							52.0	54.0	53.0					13																	32906451		2202	4294	6496	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906451G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.836G>A	13.37:g.32906451G>A	ENSP00000369497:p.Cys279Tyr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.C279Y	p.C279Y	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1063	+		Lung SC(185;0.0262)	279					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.836G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	6.205	0.405915	0.11754	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00724	5.78;5.78	5.74	-2.75	0.05914	.	1.282200	0.04906	N	0.452329	T	0.01254	0.0041	L	0.43923	1.385	0.09310	N	1	B;D	0.62365	0.025;0.991	B;P	0.51999	0.012;0.687	T	0.39921	-0.9590	10	0.45353	T	0.12	.	1.6271	0.02725	0.2773:0.0985:0.3942:0.2299	.	279;279	P51587;A1YBP1	BRCA2_HUMAN;.	Y	279;279;277	ENSP00000369497:C279Y;ENSP00000439902:C279Y	ENSP00000369497:C279Y	C	+	2	0	BRCA2	31804451	0.000000	0.05858	0.000000	0.03702	0.690000	0.40134	-0.245000	0.08890	-0.406000	0.07588	0.655000	0.94253	TGC		0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		20	28	0	0	0	1	0	20	28				
HMX2	3167	broad.mit.edu	37	10	124909419	124909419	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124909419G>A	ENST00000339992.3	+	2	859	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	201					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGAACCGCCGCAACAAGTGG	0.652																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(601-603)cGc>cAc		H6 family homeobox 2							15.0	16.0	16.0					10																	124909419		2126	4174	6300	SO:0001583	missense	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909419G>A		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.602G>A	10.37:g.124909419G>A	ENSP00000341108:p.Arg201His						p.R201H	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	859	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	201					B2RNV5	Missense_Mutation	SNP	ENST00000339992.3	37	c.602G>A	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444132	0.96187	.	.	ENSG00000188816	ENST00000339992	D	0.99158	-5.5	5.3	5.3	0.74995	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97157	0.9835	10	0.87932	D	0	.	19.1459	0.93467	0.0:0.0:1.0:0.0	.	201	A2RU54	HMX2_HUMAN	H	201	ENSP00000341108:R201H	ENSP00000341108:R201H	R	+	2	0	HMX2	124899409	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.586000	0.98226	2.741000	0.93983	0.655000	0.94253	CGC		0.652	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		5	10	0	0	0	1	0	5	10				
CDH1	999	broad.mit.edu	37	16	68844204	68844204	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68844204G>T	ENST00000261769.5	+	6	983	c.792G>T	c.(790-792)caG>caT	p.Q264H	CDH1_ENST00000422392.2_Missense_Mutation_p.Q264H|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	264	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.T263fs*3(6)|p.?(4)|p.F262_E265>L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATTCACCCAGGAGGTCTTTA	0.463			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		11	Complex - frameshift(6)|Unknown(4)|Complex - deletion inframe(1)	p.T263fs*3(6)|p.?(4)|p.F262_E265>L(1)	breast(11)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(790-792)caG>caT		cadherin 1, type 1, E-cadherin (epithelial)							124.0	121.0	122.0					16																	68844204		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68844204G>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.792G>T	16.37:g.68844204G>T	ENSP00000261769:p.Gln264His					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.Q264H	p.Q264H	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	6	983	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	264			Cadherin 2.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.792G>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487728	0.44249	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.62105	0.05;0.05	5.22	5.22	0.72569	Cadherin (3);Cadherin-like (1);	0.293668	0.24481	N	0.038152	T	0.66538	0.2799	L	0.46885	1.475	0.51482	D	0.999928	D;D	0.69078	0.997;0.994	P;P	0.61592	0.891;0.709	T	0.59392	-0.7463	10	0.12103	T	0.63	.	12.1308	0.53942	0.0837:0.0:0.9163:0.0	.	264;264	Q9UII8;P12830	.;CADH1_HUMAN	H	264	ENSP00000261769:Q264H;ENSP00000414946:Q264H	ENSP00000261769:Q264H	Q	+	3	2	CDH1	67401705	1.000000	0.71417	0.764000	0.31436	0.865000	0.49528	4.681000	0.61663	2.592000	0.87571	0.557000	0.71058	CAG		0.463	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		37	93	1	0	2.54651e-27	1	3.39717e-27	37	93				
ANK3	288	broad.mit.edu	37	10	61831460	61831460	+	Missense_Mutation	SNP	G	G	T	rs376855070		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61831460G>T	ENST00000280772.2	-	37	9370	c.9179C>A	c.(9178-9180)tCt>tAt	p.S3060Y	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3060					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTAGAGGGAGATTCCTTTCC	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9178-9180)tCt>tAt		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,TYR/SER	1,4405	2.1+/-5.4	0,1,2202	97.0	104.0	102.0		,,,9179	5.2	1.0	10		102	0,8600		0,0,4300	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,144	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,,,benign	,,,3060/4378	61831460	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831460G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9179C>A	10.37:g.61831460G>T	ENSP00000280772:p.Ser3060Tyr					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.S3060Y	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9370	-			3060					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9179C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689982	0.48097	2.27E-4	0.0	ENSG00000151150	ENST00000280772	T	0.65732	-0.17	5.23	5.23	0.72850	.	0.000000	0.41605	D	0.000846	T	0.55689	0.1936	L	0.55990	1.75	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.57201	-0.7852	10	0.72032	D	0.01	.	9.7474	0.40455	0.0762:0.1406:0.7832:0.0	.	3060	Q12955	ANK3_HUMAN	Y	3060	ENSP00000280772:S3060Y	ENSP00000280772:S3060Y	S	-	2	0	ANK3	61501466	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.499000	0.45372	2.451000	0.82905	0.313000	0.20887	TCT		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		49	76	1	0	3.7052e-28	1	4.95075e-28	49	76				
KMT2D	8085	broad.mit.edu	37	12	49442974	49442974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49442974G>A	ENST00000301067.7	-	12	3933	c.3934C>T	c.(3934-3936)Cgc>Tgc	p.R1312C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1312	Arg-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGAGGCCGGCGTCTTCCTGGG	0.547																																						ENST00000301067.7																			0											c.(3934-3936)Cgc>Tgc		lysine (K)-specific methyltransferase 2D							39.0	41.0	40.0					12																	49442974		1983	4143	6126	SO:0001583	missense	8085							g.chr12:49442974G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3934C>T	12.37:g.49442974G>A	ENSP00000301067:p.Arg1312Cys						p.R1312C	NM_003482.3	NP_003473.3					12	3933	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3934C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052224	0.36181	.	.	ENSG00000167548	ENST00000301067	D	0.87256	-2.23	5.78	5.78	0.91487	.	0.000000	0.35739	N	0.003017	D	0.91486	0.7312	L	0.57536	1.79	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	D	0.91638	0.5324	10	0.87932	D	0	.	12.2814	0.54765	0.0:0.0:0.7291:0.2709	.	1312	O14686	MLL2_HUMAN	C	1312	ENSP00000301067:R1312C	ENSP00000301067:R1312C	R	-	1	0	MLL2	47729241	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.883000	0.48554	2.740000	0.93945	0.313000	0.20887	CGC		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	9	0	0	0	1	0	5	9				
MYO3A	53904	broad.mit.edu	37	10	26443734	26443734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26443734G>A	ENST00000265944.5	+	25	2941	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	925	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACACAAACGGTTGCATCAT	0.403																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2773-2775)acG>acA		myosin IIIA							122.0	122.0	122.0					10																	26443734		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26443734G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2775G>A	10.37:g.26443734G>A						MYO3A_ENST00000543632.1_Intron	p.T925T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			25	2941	+			925			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2775G>A	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		9	14	0	0	0	1	0	9	14				
CENPI	2491	broad.mit.edu	37	X	100356228	100356228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100356228G>A	ENST00000372927.1	+	2	446	c.169G>A	c.(169-171)Gct>Act	p.A57T	CENPI_ENST00000423383.1_Missense_Mutation_p.A57T|CENPI_ENST00000218507.5_Missense_Mutation_p.A57T|CENPI_ENST00000372926.1_Missense_Mutation_p.A57T	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	57					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTATGAACATGCTGATGATCA	0.398																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(169-171)Gct>Act		centromere protein I							182.0	159.0	167.0					X																	100356228		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100356228G>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.169G>A	X.37:g.100356228G>A	ENSP00000362018:p.Ala57Thr					CENPI_ENST00000423383.1_Missense_Mutation_p.A57T|CENPI_ENST00000218507.5_Missense_Mutation_p.A57T|CENPI_ENST00000372926.1_Missense_Mutation_p.A57T	p.A57T	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			2	446	+			57					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.169G>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938186	0.34189	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000403304;ENST00000372926;ENST00000372927	.	.	.	5.41	2.28	0.28536	.	0.558620	0.17732	N	0.163867	T	0.27559	0.0677	L	0.36672	1.1	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.17433	0.012;0.018	T	0.26780	-1.0093	9	0.13853	T	0.58	1.1922	6.9744	0.24666	0.3569:0.0:0.6431:0.0	.	57;57	B4DZL4;Q92674	.;CENPI_HUMAN	T	57	.	ENSP00000218507:A57T	A	+	1	0	CENPI	100242884	0.001000	0.12720	0.001000	0.08648	0.351000	0.29236	0.594000	0.24014	0.069000	0.16605	0.600000	0.82982	GCT		0.398	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		34	81	0	0	0	1	0	34	81				
DHX40	79665	broad.mit.edu	37	17	57644083	57644083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57644083T>C	ENST00000251241.4	+	2	355	c.208T>C	c.(208-210)Tca>Cca	p.S70P	DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_Intron	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	70	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGGGACAATTCATTCCTTAT	0.363																																						ENST00000251241.4																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(208-210)Tca>Cca		DEAH (Asp-Glu-Ala-His) box polypeptide 40							63.0	65.0	64.0					17																	57644083		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57644083T>C	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.208T>C	17.37:g.57644083T>C	ENSP00000251241:p.Ser70Pro					DHX40_ENST00000425628.3_Intron|DHX40_ENST00000451169.2_5'UTR	p.S70P	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN			2	355	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		70			Helicase ATP-binding.		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.208T>C	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594177	0.28445	.	.	ENSG00000108406	ENST00000251241;ENST00000425628	T	0.07688	3.17	5.47	3.15	0.36227	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.263840	0.37530	N	0.002048	T	0.02610	0.0079	N	0.01209	-0.955	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41070	-0.9529	10	0.59425	D	0.04	.	4.7333	0.12975	0.0:0.4164:0.0:0.5836	.	70	Q8IX18	DHX40_HUMAN	P	70	ENSP00000251241:S70P	ENSP00000251241:S70P	S	+	1	0	DHX40	54998865	0.777000	0.28628	1.000000	0.80357	0.998000	0.95712	0.600000	0.24104	0.908000	0.36671	0.459000	0.35465	TCA		0.363	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		8	48	0	0	0	1	0	8	48				
SLC19A1	6573	broad.mit.edu	37	21	46945844	46945844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46945844C>A	ENST00000311124.4	-	5	1332	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	SLC19A1_ENST00000567670.1_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000380010.4_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.E354*	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	394					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GCACAGAGCTCTTTAGACAGA	0.567																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1180-1182)Gag>Tag		solute carrier family 19 (folate transporter), member 1							118.0	112.0	114.0					21																	46945844		2203	4300	6503	SO:0001587	stop_gained	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46945844C>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1180G>T	21.37:g.46945844C>A	ENSP00000308895:p.Glu394*					SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.E354*|SLC19A1_ENST00000380010.4_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000567670.1_Nonsense_Mutation_p.E394*	p.E394*	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	5	1332	-			394					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Nonsense_Mutation	SNP	ENST00000311124.4	37	c.1180G>T	CCDS13725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.369853|4.369853	0.82573|0.82573	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649|ENST00000417954	.|D	.|0.86230	.|-2.09	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	0.231538|.	0.37304|.	N|.	0.002143|.	.|D	.|0.89949	.|0.6863	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.89795	.|0.3971	.|5	0.66056|0.33141	D|T	0.02|0.24	-35.7289|-35.7289	16.1753|16.1753	0.81845|0.81845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	141;394;394;354|128	.|ENSP00000393988:K128N	ENSP00000308895:E394X|ENSP00000393988:K128N	E|K	-|-	1|3	0|2	SLC19A1|SLC19A1	45770272|45770272	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.226000|0.226000	0.24999|0.24999	5.294000|5.294000	0.65687|0.65687	2.224000|2.224000	0.72417|0.72417	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.567	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			30	62	1	0	5.09552e-08	1	6.05645e-08	30	62				
NCKAP5L	57701	broad.mit.edu	37	12	50191178	50191178	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50191178C>T	ENST00000335999.6	-	8	667		c.e8-1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCAACATACCTTAGGGGAGA	0.647																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.e8-1		NCK-associated protein 5-like							7.0	8.0	8.0					12																	50191178		1914	4058	5972	SO:0001630	splice_region_variant	57701							g.chr12:50191178C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.466-1G>A	12.37:g.50191178C>T								NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	667	-								Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Splice_Site	SNP	ENST00000335999.6	37		CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968008	0.34754	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	4.26	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9395	0.13958	0.1669:0.6471:0.0:0.1859	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5L	48477445	1.000000	0.71417	0.762000	0.31397	0.809000	0.45718	3.671000	0.54576	0.163000	0.19507	0.462000	0.41574	.		0.647	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	Intron	4	10	0	0	0	1	0	4	10				
ZGRF1	55345	broad.mit.edu	37	4	113540640	113540640	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113540640C>T	ENST00000505019.1	-	6	683	c.558G>A	c.(556-558)gaG>gaA	p.E186E	C4orf21_ENST00000445203.2_Silent_p.E155E|C4orf21_ENST00000309071.5_Silent_p.E186E	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		186						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGGCATTTCTCTCCCTGTTCT	0.403																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(556-558)gaG>gaA		chromosome 4 open reading frame 21							52.0	56.0	54.0					4																	113540640		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113540640C>T																												ENST00000505019.1:c.558G>A	4.37:g.113540640C>T						C4orf21_ENST00000309071.5_Silent_p.E186E|C4orf21_ENST00000445203.2_Silent_p.E155E	p.E186E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	683	-		Ovarian(17;0.156)	186					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.558G>A																																																																																					0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			25	42	0	0	0	1	0	25	42				
KIAA1755	85449	broad.mit.edu	37	20	36869797	36869797	+	Missense_Mutation	SNP	G	G	A	rs577168630		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36869797G>A	ENST00000279024.4	-	3	1007	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	246								p.P246A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATGAGTCCTGGATACTTGCTC	0.592																																						ENST00000279024.4																			1	Substitution - Missense(1)	p.P246A(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(736-738)Cca>Tca		KIAA1755							143.0	124.0	131.0					20																	36869797		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869797G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.736C>T	20.37:g.36869797G>A	ENSP00000279024:p.Pro246Ser						p.P246S	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1007	-		Myeloproliferative disorder(115;0.00874)	246					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.736C>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777371	0.70107	.	.	ENSG00000149633	ENST00000279024	T	0.08370	3.1	5.46	5.46	0.80206	.	0.000000	0.49916	D	0.000131	T	0.27313	0.0670	M	0.71581	2.175	0.36356	D	0.860364	D	0.89917	1.0	D	0.81914	0.995	T	0.03641	-1.1017	10	0.25751	T	0.34	.	16.6317	0.85035	0.0:0.0:1.0:0.0	.	246	Q5JYT7	K1755_HUMAN	S	246	ENSP00000279024:P246S	ENSP00000279024:P246S	P	-	1	0	KIAA1755	36303211	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	5.408000	0.66368	2.840000	0.97914	0.655000	0.94253	CCA		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		26	36	0	0	0	1	0	26	36				
MYOF	26509	broad.mit.edu	37	10	95111211	95111211	+	Missense_Mutation	SNP	C	C	T	rs370780451		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95111211C>T	ENST00000359263.4	-	34	3780	c.3781G>A	c.(3781-3783)Ggg>Agg	p.G1261R	MYOF_ENST00000371502.4_Missense_Mutation_p.G1261R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1248R|MYOF_ENST00000371501.4_Missense_Mutation_p.G1261R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1261					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAACATCCCCGCAGGCTTTG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20851	0.001		0.0	False		,,,				2504	0.0					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3781-3783)Ggg>Agg		myoferlin							106.0	106.0	106.0					10																	95111211		1958	4154	6112	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111211C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3781G>A	10.37:g.95111211C>T	ENSP00000352208:p.Gly1261Arg					MYOF_ENST00000359263.4_Missense_Mutation_p.G1261R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1248R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1261R	p.G1261R			Q9NZM1	MYOF_HUMAN			34	3903	-			1261					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3781G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375972	0.61735	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.96	5.96	0.96718	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91764	0.7395	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.966	D	0.92862	0.6306	10	0.87932	D	0	-21.118	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1248;1261	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1248;1261;1261;1261	ENSP00000351094:G1248R;ENSP00000352208:G1261R;ENSP00000360556:G1261R;ENSP00000360557:G1261R	ENSP00000351094:G1248R	G	-	1	0	MYOF	95101201	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	7.625000	0.83145	2.831000	0.97527	0.650000	0.86243	GGG		0.453	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		7	72	0	0	0	1	0	7	72				
NIT2	56954	broad.mit.edu	37	3	100058042	100058042	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058042C>A	ENST00000394140.4	+	2	210	c.119C>A	c.(118-120)tCt>tAt	p.S40Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	40	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AAAATAGTTTCTTTGCCGGTC	0.512																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(118-120)tCt>tAt		nitrilase family, member 2							119.0	120.0	119.0					3																	100058042		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100058042C>A	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.119C>A	3.37:g.100058042C>A	ENSP00000377696:p.Ser40Tyr						p.S40Y	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			2	210	+			40			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.119C>A	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.90|17.90	3.502846|3.502846	0.64298|0.64298	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000497785|ENST00000394140	.|D	.|0.85411	.|-1.98	5.21|5.21	4.33|4.33	0.51752|0.51752	.|Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	.|0.318921	.|0.33253	.|N	.|0.005108	D|D	0.90174|0.90174	0.6929|0.6929	M|M	0.71036|0.71036	2.16|2.16	0.31227|0.31227	N|N	0.696766|0.696766	.|D;D	.|0.71674	.|0.998;0.966	.|D;P	.|0.68192	.|0.956;0.74	D|D	0.89397|0.89397	0.3693|0.3693	5|10	.|0.87932	.|D	.|0	0.0262|0.0262	10.4694|10.4694	0.44626|0.44626	0.0:0.7915:0.1356:0.0728|0.0:0.7915:0.1356:0.0728	.|.	.|40;40	.|B7Z3F9;Q9NQR4	.|.;NIT2_HUMAN	L|Y	133|40	.|ENSP00000377696:S40Y	.|ENSP00000377696:S40Y	F|S	+|+	3|2	2|0	NIT2|NIT2	101540732|101540732	0.989000|0.989000	0.36119|0.36119	0.887000|0.887000	0.34795|0.34795	0.955000|0.955000	0.61496|0.61496	1.757000|1.757000	0.38400|0.38400	1.319000|1.319000	0.45190|0.45190	0.484000|0.484000	0.47621|0.47621	TTC|TCT		0.512	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		43	77	1	0	1.8453e-21	1	2.42927e-21	43	77				
MGAT3	4248	broad.mit.edu	37	22	39884759	39884759	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39884759G>A	ENST00000341184.6	+	2	1622	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	469					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCACGCAGCAGGAGTACC	0.627																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1405-1407)caG>caA		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							47.0	51.0	50.0					22																	39884759		2203	4300	6503	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884759G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1407G>A	22.37:g.39884759G>A							p.Q469Q	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1622	+	Melanoma(58;0.04)		469					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1407G>A	CCDS13994.2																																																																																				0.627	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		8	9	0	0	0	1	0	8	9				
PTPN23	25930	broad.mit.edu	37	3	47450427	47450427	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47450427T>C	ENST00000265562.4	+	16	1569	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	PTPN23_ENST00000431726.1_Missense_Mutation_p.W372R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	498					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCGAGAATGGGCCAAGTA	0.612																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1492-1494)Tgg>Cgg		protein tyrosine phosphatase, non-receptor type 23							119.0	105.0	110.0					3																	47450427		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450427T>C	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1492T>C	3.37:g.47450427T>C	ENSP00000265562:p.Trp498Arg					PTPN23_ENST00000431726.1_Missense_Mutation_p.W372R	p.W498R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	16	1569	+			498					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.1492T>C	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695513	0.68386	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.29142	1.58	4.29	4.29	0.51040	.	0.263808	0.32852	N	0.005574	T	0.36441	0.0967	L	0.36672	1.1	0.43489	D	0.995729	B;D	0.67145	0.052;0.996	B;P	0.57057	0.047;0.812	T	0.04693	-1.0933	10	0.27785	T	0.31	-5.7897	12.551	0.56225	0.0:0.0:0.0:1.0	.	372;498	B4DST5;Q9H3S7	.;PTN23_HUMAN	R	463;498	ENSP00000265562:W498R	ENSP00000265562:W498R	W	+	1	0	PTPN23	47425431	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	5.209000	0.65208	1.802000	0.52723	0.455000	0.32223	TGG		0.612	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		43	77	0	0	0	1	0	43	77				
FRMPD4	9758	broad.mit.edu	37	X	12722503	12722503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12722503C>A	ENST00000380682.1	+	11	1602	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	366	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAGACTTTTCTTCCCTCTGC	0.373																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1096-1098)Ctt>Att		FERM and PDZ domain containing 4							111.0	102.0	105.0					X																	12722503		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12722503C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1096C>A	X.37:g.12722503C>A	ENSP00000370057:p.Leu366Ile						p.L366I	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			11	1602	+			366			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1096C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156994	0.78114	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.52983	0.64	5.72	5.72	0.89469	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.64402	D	0.000001	T	0.59797	0.2220	L	0.35644	1.08	0.41319	D	0.987166	D;B	0.89917	1.0;0.374	D;P	0.91635	0.999;0.627	T	0.52909	-0.8512	10	0.20519	T	0.43	-34.4774	18.919	0.92518	0.0:1.0:0.0:0.0	.	358;366	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	366;357;355	ENSP00000370057:L366I	ENSP00000304583:L355I	L	+	1	0	FRMPD4	12632424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.543000	0.60684	2.415000	0.81967	0.600000	0.82982	CTT		0.373	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		27	72	1	0	1.77063e-15	1	2.27219e-15	27	72				
PPM1F	9647	broad.mit.edu	37	22	22277493	22277493	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22277493G>T	ENST00000263212.5	-	8	1442	c.1337C>A	c.(1336-1338)cCt>cAt	p.P446H	PPM1F_ENST00000538191.1_Missense_Mutation_p.P342H|PPM1F_ENST00000407142.1_Missense_Mutation_p.P278H	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	446					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGTCTCAGGTTCTGGAAG	0.642																																						ENST00000407142.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(832-834)cCt>cAt		protein phosphatase, Mg2+/Mn2+ dependent, 1F							65.0	74.0	71.0					22																	22277493		2203	4300	6503	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22277493G>T	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1337C>A	22.37:g.22277493G>T	ENSP00000263212:p.Pro446His					PPM1F_ENST00000263212.5_Missense_Mutation_p.P446H|PPM1F_ENST00000538191.1_Missense_Mutation_p.P342H	p.P278H			P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	6	1893	-	Colorectal(54;0.105)		446					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.833C>A	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	G	9.170	1.021022	0.19433	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.17370	2.53;2.28;2.52	4.53	1.93	0.25924	.	1.378310	0.04285	N	0.344513	T	0.14657	0.0354	N	0.24115	0.695	0.09310	N	1	D;D	0.63046	0.97;0.992	B;P	0.49561	0.439;0.615	T	0.17501	-1.0367	10	0.13853	T	0.58	-17.0976	3.7557	0.08585	0.2788:0.1941:0.5271:0.0	.	342;446	B7Z2C3;P49593	.;PPM1F_HUMAN	H	446;278;278;342	ENSP00000263212:P446H;ENSP00000384930:P278H;ENSP00000439915:P342H	ENSP00000263212:P446H	P	-	2	0	PPM1F	20607493	0.920000	0.31207	0.159000	0.22649	0.030000	0.12068	1.427000	0.34881	0.301000	0.22738	0.655000	0.94253	CCT		0.642	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		5	116	1	0	1	1	1	5	116				
ZFR2	23217	broad.mit.edu	37	19	3825226	3825226	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3825226A>G	ENST00000262961.4	-	7	1224		c.e7+1			NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGACACACGTACCCTCGCATA	0.597																																						ENST00000262961.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.e7+1		zinc finger RNA binding protein 2							11.0	13.0	12.0					19																	3825226		1993	4132	6125	SO:0001630	splice_region_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3825226A>G	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1213+1T>C	19.37:g.3825226A>G								NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	7	1224	-									Splice_Site	SNP	ENST00000262961.4	37		CCDS45921.1	.	.	.	.	.	.	.	.	.	.	A	9.498	1.102451	0.20632	.	.	ENSG00000105278	ENST00000262961	.	.	.	2.83	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.26329	N	0.977553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4055	0.26987	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFR2	3776226	0.960000	0.32886	0.030000	0.17652	0.010000	0.07245	2.435000	0.44811	1.304000	0.44892	0.379000	0.24179	.		0.597	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174	Intron	3	2	0	0	0	1	0	3	2				
SETD5	55209	broad.mit.edu	37	3	9488989	9488989	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9488989G>T	ENST00000406341.1	+	13	1970	c.1780G>T	c.(1780-1782)Ggg>Tgg	p.G594W	SETD5_ENST00000402466.1_Missense_Mutation_p.G496W|SETD5_ENST00000402198.1_Missense_Mutation_p.G594W|SETD5_ENST00000302463.6_Missense_Mutation_p.G496W|SETD5_ENST00000407969.1_Missense_Mutation_p.G613W			Q9C0A6	SETD5_HUMAN	SET domain containing 5	594										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCCCAAGCAGGGGTAAGAGT	0.428																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1486-1488)Ggg>Tgg		SET domain containing 5							128.0	127.0	127.0					3																	9488989		1857	4089	5946	SO:0001583	missense	55209							g.chr3:9488989G>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1780G>T	3.37:g.9488989G>T	ENSP00000383939:p.Gly594Trp					SETD5_ENST00000302463.6_Missense_Mutation_p.G496W|SETD5_ENST00000406341.1_Missense_Mutation_p.G594W|SETD5_ENST00000407969.1_Missense_Mutation_p.G613W|SETD5_ENST00000402198.1_Missense_Mutation_p.G594W	p.G496W			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	15	2254	+	Medulloblastoma(99;0.227)		594					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1486G>T	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.354104|4.354104	0.82243|0.82243	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.91945|.	-2.62;-2.94;-2.62;-2.62;-2.94|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.123066|.	0.53938|.	D|.	0.000054|.	T|T	0.60599|0.60599	0.2281|0.2281	L|L	0.36672|0.36672	1.1|1.1	0.40747|0.40747	D|D	0.982889|0.982889	D;D;D;D|.	0.76494|.	0.999;0.999;0.996;0.996|.	D;D;P;P|.	0.72982|.	0.979;0.971;0.908;0.908|.	T|T	0.55976|0.55976	-0.8055|-0.8055	10|5	0.37606|.	T|.	0.19|.	-12.5485|-12.5485	17.9703|17.9703	0.89111|0.89111	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263;496;594;613|.	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;SETD5_HUMAN;.|.	W|M	594;496;594;613;496|261	ENSP00000385852:G594W;ENSP00000384429:G496W;ENSP00000383939:G594W;ENSP00000384114:G613W;ENSP00000302028:G496W|.	ENSP00000302028:G496W|.	G|R	+|+	1|2	0|0	SETD5|SETD5	9463989|9463989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	3.669000|3.669000	0.54561|0.54561	2.662000|2.662000	0.90505|0.90505	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.428	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		8	160	1	0	1.12685e-05	1	1.27857e-05	8	160				
TRAIP	10293	broad.mit.edu	37	3	49879910	49879910	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49879910C>A	ENST00000331456.2	-	6	592	c.479G>T	c.(478-480)aGg>aTg	p.R160M	TRAIP_ENST00000473863.1_5'Flank|TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	160					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCTTGCTCCTGAGCCGGCG	0.547																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(478-480)aGg>aTg		TRAF interacting protein							189.0	169.0	176.0					3																	49879910		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49879910C>A	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.479G>T	3.37:g.49879910C>A	ENSP00000328203:p.Arg160Met					TRAIP_ENST00000469027.1_Intron	p.R160M	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	6	592	-			160					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.479G>T	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417852	0.62622	.	.	ENSG00000183763	ENST00000331456;ENST00000482582	T;T	0.78126	-1.15;-1.15	5.67	4.57	0.56435	Prefoldin (1);	0.040381	0.85682	D	0.000000	D	0.85044	0.5607	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	D	0.85621	0.1264	10	0.62326	D	0.03	-2.5554	11.9619	0.53013	0.0:0.8938:0.0:0.1062	.	160	Q9BWF2	TRAIP_HUMAN	M	160;144	ENSP00000328203:R160M;ENSP00000418544:R144M	ENSP00000328203:R160M	R	-	2	0	TRAIP	49854914	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	3.584000	0.53936	1.065000	0.40693	0.561000	0.74099	AGG		0.547	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		5	70	1	0	3.59834e-05	1	4.01776e-05	5	70				
ATP2A3	489	broad.mit.edu	37	17	3844783	3844783	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844783G>A	ENST00000352011.3	-	13	1765	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	ATP2A3_ENST00000397043.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397035.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Missense_Mutation_p.P571S|ATP2A3_ENST00000359983.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397041.3_Missense_Mutation_p.P571S			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCCTTCCTTGGGGGCGCGTCC	0.647																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1711-1713)Cca>Tca		ATPase, Ca++ transporting, ubiquitous							89.0	87.0	88.0					17																	3844783		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844783G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1711C>T	17.37:g.3844783G>A	ENSP00000301387:p.Pro571Ser					ATP2A3_ENST00000397043.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000359983.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397035.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397041.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000352011.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397039.1_5'UTR	p.P571S	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1861	-			571					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1711C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	g	9.484	1.098958	0.20552	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	4.01	4.01	0.46588	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.132546	0.51477	D	0.000094	T	0.69646	0.3134	L	0.27053	0.805	0.41810	D	0.989962	P;B;B;B;B;B	0.47484	0.896;0.031;0.145;0.188;0.188;0.188	B;B;B;B;B;B	0.41666	0.363;0.009;0.06;0.036;0.036;0.024	T	0.68911	-0.5284	10	0.07030	T	0.85	.	12.668	0.56853	0.0:0.1812:0.8188:0.0	.	571;571;571;571;571;571	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	S	571	ENSP00000380236:P571S;ENSP00000301387:P571S;ENSP00000353072:P571S;ENSP00000380234:P571S;ENSP00000312577:P571S;ENSP00000380229:P571S	ENSP00000312577:P571S	P	-	1	0	ATP2A3	3791532	1.000000	0.71417	0.876000	0.34364	0.537000	0.34900	5.233000	0.65337	2.523000	0.85059	0.556000	0.70494	CCA		0.647	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		30	48	0	0	0	1	0	30	48				
ATG16L2	89849	broad.mit.edu	37	11	72537750	72537750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72537750G>T	ENST00000321297.5	+	13	1386	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	416					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGGTACAGGAGACACTGTCTG	0.592																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1246-1248)gaG>gaT		autophagy related 16-like 2 (S. cerevisiae)							87.0	97.0	93.0					11																	72537750		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72537750G>T	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1248G>T	11.37:g.72537750G>T	ENSP00000326340:p.Glu416Asp					ATG16L2_ENST00000534905.1_Intron	p.E416D	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		13	1386	+			416					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1248G>T	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.474521|2.474521	0.43942|0.43942	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000535830;ENST00000540222|ENST00000321297;ENST00000538973;ENST00000541367	.|T;T;T	.|0.60171	.|0.21;0.21;0.21	5.63|5.63	1.09|1.09	0.20402|0.20402	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|1.621710	.|0.03506	.|N	.|0.218833	T|T	0.55893|0.55893	0.1949|0.1949	N|N	0.16066|0.16066	0.365|0.365	0.80722|0.80722	D|D	1|1	.|D;P	.|0.67145	.|0.996;0.953	.|P;P	.|0.59115	.|0.851;0.852	T|T	0.52653|0.52653	-0.8547|-0.8547	5|10	.|0.34782	.|T	.|0.22	.|.	8.2808|8.2808	0.31900|0.31900	0.3985:0.0:0.6015:0.0|0.3985:0.0:0.6015:0.0	.|.	.|310;416	.|Q8NAA4-2;Q8NAA4	.|.;A16L2_HUMAN	Y|D	254;194|416;247;247	.|ENSP00000326340:E416D;ENSP00000441989:E247D;ENSP00000437412:E247D	.|ENSP00000326340:E416D	D|E	+|+	1|3	0|2	ATG16L2|ATG16L2	72215398|72215398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.236000|0.236000	0.25371|0.25371	0.468000|0.468000	0.22051|0.22051	0.406000|0.406000	0.25560|0.25560	-0.254000|-0.254000	0.11334|0.11334	GAC|GAG		0.592	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		41	74	1	0	3.61848e-18	1	4.7115e-18	41	74				
NCDN	23154	broad.mit.edu	37	1	36028226	36028226	+	Silent	SNP	C	C	T	rs146734510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028226C>T	ENST00000373243.2	+	4	1760	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	NCDN_ENST00000373253.3_Silent_p.D442D|NCDN_ENST00000356090.4_Silent_p.D459D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	459					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCCAGGAGACGCTCTCCGGT	0.597																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1375-1377)gaC>gaT		neurochondrin		C	,,	2,4404	4.2+/-10.8	0,2,2201	30.0	30.0	30.0		1377,1326,1377	-1.8	1.0	1	dbSNP_134	30	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCDN	NM_001014839.1,NM_001014841.1,NM_014284.2	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	459/730,442/713,459/730	36028226	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028226C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1377C>T	1.37:g.36028226C>T						NCDN_ENST00000356090.4_Silent_p.D459D|NCDN_ENST00000373253.3_Silent_p.D442D	p.D459D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			4	1760	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	459					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1377C>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	8.534	0.871597	0.17322	4.54E-4	0.0	ENSG00000020129	ENST00000423723	.	.	.	4.67	-1.83	0.07833	.	.	.	.	.	T	0.54398	0.1856	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48387	-0.9040	4	.	.	.	.	9.2586	0.37599	0.0:0.4843:0.0:0.5157	.	.	.	.	M	53	.	.	T	+	2	0	NCDN	35800813	0.788000	0.28762	0.989000	0.46669	0.976000	0.68499	-0.446000	0.06837	-0.535000	0.06307	-0.379000	0.06801	ACG		0.597	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		8	11	0	0	0	1	0	8	11				
HRC	3270	broad.mit.edu	37	19	49658411	49658411	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658411C>A	ENST00000252825.4	-	1	270	c.84G>T	c.(82-84)caG>caT	p.Q28H	HRC_ENST00000595625.1_Missense_Mutation_p.Q28H|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	28					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTGAGCTGCTGGGTCATGG	0.667																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(82-84)caG>caT		histidine rich calcium binding protein							54.0	57.0	56.0					19																	49658411		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658411C>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.84G>T	19.37:g.49658411C>A	ENSP00000252825:p.Gln28His					HRC_ENST00000595625.1_Missense_Mutation_p.Q28H	p.Q28H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	270	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	28					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.84G>T	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596838	0.66332	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.42513	0.97	3.48	3.48	0.39840	.	.	.	.	.	T	0.60287	0.2257	M	0.64997	1.995	0.31912	N	0.614537	D	0.76494	0.999	D	0.77557	0.99	T	0.66586	-0.5886	9	0.87932	D	0	-14.8349	13.2534	0.60064	0.0:1.0:0.0:0.0	.	28	P23327	SRCH_HUMAN	H	28	ENSP00000252825:Q28H	ENSP00000252825:Q28H	Q	-	3	2	HRC	54350223	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	2.041000	0.41213	2.223000	0.72356	0.561000	0.74099	CAG		0.667	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		6	59	1	0	0.0215528	1	0.0221649	6	59				
ST14	6768	broad.mit.edu	37	11	130079624	130079624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130079624G>A	ENST00000278742.5	+	19	2892	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	825	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGTGGTGAGCTGGGGAGAC	0.647																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(2473-2475)aGc>aAc		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						79.0	80.0	80.0					11																	130079624		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130079624G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2474G>A	11.37:g.130079624G>A	ENSP00000278742:p.Ser825Asn						p.S825N	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	19	2892	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	825			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.2474G>A	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261681	0.80358	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.96200	-3.94	5.0	5.0	0.66597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43579	D	0.000546	D	0.98052	0.9358	M	0.88775	2.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99201	1.0873	10	0.87932	D	0	.	17.889	0.88865	0.0:0.0:1.0:0.0	.	825	Q9Y5Y6	ST14_HUMAN	N	825;727	ENSP00000278742:S825N	ENSP00000278742:S825N	S	+	2	0	ST14	129584834	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	7.867000	0.87062	2.322000	0.78497	0.462000	0.41574	AGC		0.647	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			29	42	0	0	0	1	0	29	42				
SSPO	23145	broad.mit.edu	37	7	149485905	149485905	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149485905C>T	ENST00000378016.2	+	0	4124							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGTGCCTGCCTGTGCAGAG	0.612																																						ENST00000378016.2																			0													SCO-spondin							87.0	92.0	90.0					7																	149485905		2183	4283	6466			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485905C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485905C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4124	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				10	44	0	0	0	1	0	10	44				
AMDHD1	144193	broad.mit.edu	37	12	96350567	96350567	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96350567G>A	ENST00000266736.2	+	4	520	c.414G>A	c.(412-414)ttG>ttA	p.L138L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	138					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCGCTCCTTGCAGCAACGGC	0.617																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(412-414)ttG>ttA		amidohydrolase domain containing 1							83.0	71.0	75.0					12																	96350567		2203	4300	6503	SO:0001819	synonymous_variant	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96350567G>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.414G>A	12.37:g.96350567G>A							p.L138L	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			4	520	+			138					A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	c.414G>A	CCDS9057.1																																																																																				0.617	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		7	46	0	0	0	1	0	7	46				
FHOD3	80206	broad.mit.edu	37	18	34322791	34322791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34322791C>T	ENST00000359247.4	+	18	3275	c.3275C>T	c.(3274-3276)gCc>gTc	p.A1092V	FHOD3_ENST00000592128.1_Missense_Mutation_p.A88V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1284V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A305V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1071V|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1109V	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1092	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTCTCTTAGCCATTGGGAAC	0.458																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3325-3327)gCc>gTc		formin homology 2 domain containing 3							209.0	197.0	201.0					18																	34322791		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34322791C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3275C>T	18.37:g.34322791C>T	ENSP00000352186:p.Ala1092Val					FHOD3_ENST00000592128.1_Missense_Mutation_p.A88V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1092V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A305V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1284V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1071V	p.A1109V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			19	3448	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1092			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3326C>T		.	.	.	.	.	.	.	.	.	.	c	29.0	4.970350	0.92919	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20332	2.08;2.08;2.08	5.34	5.34	0.76211	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.83774	2.66	0.80722	D	1	P;D;D;D	0.71674	0.772;0.995;0.998;0.967	P;P;D;P	0.63597	0.657;0.864;0.916;0.885	T	0.55891	-0.8069	10	0.87932	D	0	.	17.6415	0.88138	0.0:1.0:0.0:0.0	.	313;1071;1092;1109	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	V	1109;1092;1071	ENSP00000257209:A1109V;ENSP00000352186:A1092V;ENSP00000411430:A1071V	ENSP00000257209:A1109V	A	+	2	0	FHOD3	32576789	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.815000	0.86186	2.500000	0.84329	0.651000	0.88453	GCC		0.458	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		61	111	0	0	0	1	0	61	111				
DDX55	57696	broad.mit.edu	37	12	124094552	124094552	+	Silent	SNP	G	G	A	rs376035037		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124094552G>A	ENST00000238146.4	+	7	668	c.618G>A	c.(616-618)acG>acA	p.T206T	DDX55_ENST00000538744.1_Silent_p.T206T	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	206	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCACTCAGACGCAGGAAGTGG	0.567																																						ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(616-618)acG>acA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							69.0	69.0	69.0					12																	124094552		2203	4300	6503	SO:0001819	synonymous_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124094552G>A	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.618G>A	12.37:g.124094552G>A						DDX55_ENST00000538744.1_Silent_p.T206T	p.T206T	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	7	668	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		206			Helicase ATP-binding.		Q658L6|Q8IYH0|Q9HCH7	Silent	SNP	ENST00000238146.4	37	c.618G>A	CCDS9251.1																																																																																				0.567	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			20	31	0	0	0	1	0	20	31				
AFF1	4299	broad.mit.edu	37	4	88036378	88036378	+	Missense_Mutation	SNP	C	C	T	rs142319329	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036378C>T	ENST00000307808.6	+	11	2792	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	AFF1_ENST00000544085.1_Missense_Mutation_p.P429L|AFF1_ENST00000395146.4_Missense_Mutation_p.P798L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	791					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATAAACAGCCGCCCGCAGGG	0.567													c|||	3	0.000599042	0.0008	0.0014	5008	,	,		18366	0.0		0.001	False		,,,				2504	0.0					ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2371-2373)cCg>cTg		AF4/FMR2 family, member 1		T	LEU/PRO,LEU/PRO	2,4404	2.1+/-5.4	0,2,2201	34.0	39.0	37.0		2372,2393	-1.0	0.0	4	dbSNP_134	37	6,8594	5.7+/-21.5	0,6,4294	yes	missense,missense	AFF1	NM_005935.2,NM_001166693.1	98,98	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	benign,benign	791/1211,798/1219	88036378	8,12998	2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036378C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2372C>T	4.37:g.88036378C>T	ENSP00000305689:p.Pro791Leu					AFF1_ENST00000544085.1_Missense_Mutation_p.P429L|AFF1_ENST00000395146.4_Missense_Mutation_p.P798L	p.P791L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2792	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	791					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2372C>T	CCDS3616.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	5.085	0.201295	0.09652	4.54E-4	6.98E-4	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.61980	0.06;0.06;0.06	5.93	-0.958	0.10347	.	0.952279	0.08791	N	0.893229	T	0.35537	0.0935	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.20240	-1.0281	10	0.14252	T	0.57	-2.2419	7.5725	0.27915	0.1137:0.2879:0.0:0.5984	.	798;791;791	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	L	798;450;791;429	ENSP00000378578:P798L;ENSP00000305689:P791L;ENSP00000440843:P429L	ENSP00000305689:P791L	P	+	2	0	AFF1	88255402	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.164000	0.09983	-0.100000	0.12241	-0.185000	0.12909	CCG		0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		11	8	0	0	0	1	0	11	8				
AHNAK	79026	broad.mit.edu	37	11	62290342	62290342	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62290342G>A	ENST00000378024.4	-	5	11821	c.11547C>T	c.(11545-11547)atC>atT	p.I3849I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3849					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGCCTTCGATATTCACAT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11545-11547)atC>atT		AHNAK nucleoprotein							156.0	165.0	162.0					11																	62290342		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62290342G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11547C>T	11.37:g.62290342G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.I3849I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11821	-		Melanoma(852;0.155)	3849					A1A586	Silent	SNP	ENST00000378024.4	37	c.11547C>T	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		109	142	0	0	0	1	0	109	142				
DBF4B	80174	broad.mit.edu	37	17	42807456	42807456	+	Missense_Mutation	SNP	G	G	A	rs376157751		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42807456G>A	ENST00000315005.3	+	4	547	c.409G>A	c.(409-411)Gtt>Att	p.V137I	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.V137I|DBF4B_ENST00000393547.2_Missense_Mutation_p.V137I	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	137					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGGAAACCCGTTGACTCGGT	0.507																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(409-411)Gtt>Att		DBF4 homolog B (S. cerevisiae)							68.0	56.0	60.0					17																	42807456		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42807456G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.409G>A	17.37:g.42807456G>A	ENSP00000323663:p.Val137Ile					DBF4B_ENST00000398338.3_Missense_Mutation_p.V137I|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.V137I	p.V137I	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			4	547	+		Prostate(33;0.0322)	137					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.409G>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841068	0.16891	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005	T;T;T	0.11063	2.81;2.81;2.81	4.62	-4.42	0.03579	.	2.826410	0.01020	N	0.003967	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20164	0.004;0.0;0.042;0.0	B;B;B;B	0.09377	0.001;0.001;0.004;0.001	T	0.36359	-0.9751	10	0.38643	T	0.18	-0.0244	10.7715	0.46325	0.6973:0.0:0.3027:0.0	.	137;121;137;137	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	I	137	ENSP00000377178:V137I;ENSP00000381381:V137I;ENSP00000323663:V137I	ENSP00000323663:V137I	V	+	1	0	DBF4B	40162982	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.709000	0.05030	-0.654000	0.05394	-1.421000	0.01109	GTT		0.507	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		19	30	0	0	0	1	0	19	30				
TMEM246	84302	broad.mit.edu	37	9	104238794	104238794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104238794C>T	ENST00000374851.1	-	4	1728	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.C194Y|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.C194Y|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	194						integral component of membrane (GO:0016021)											TGACTCCAGGCAATAGACATA	0.502																																						ENST00000374851.1																			0											c.(580-582)tGc>tAc		transmembrane protein 246							99.0	79.0	86.0					9																	104238794		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238794C>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.581G>A	9.37:g.104238794C>T	ENSP00000363984:p.Cys194Tyr					RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.C194Y|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.C194Y	p.C194Y			Q9BRR3	CI125_HUMAN			4	1728	-			194					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.581G>A	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251486	0.80135	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78001	-0.2375	9	0.72032	D	0.01	-26.8896	19.3614	0.94440	0.0:1.0:0.0:0.0	.	194	Q9BRR3	CI125_HUMAN	Y	194	.	ENSP00000363980:C194Y	C	-	2	0	C9orf125	103278615	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.541000	0.82084	2.809000	0.96659	0.650000	0.86243	TGC		0.502	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		5	26	0	0	0	1	0	5	26				
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28720060C>T	ENST00000257198.5	-	10	1726	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.E489K	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	489	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E489*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428																																						ENST00000257197.3																			2	Substitution - Nonsense(2)	p.E489*(2)	large_intestine(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1465-1467)Gaa>Aaa		desmocollin 1							83.0	86.0	85.0					18																	28720060		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28720060C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1465G>A	18.37:g.28720060C>T	ENSP00000257198:p.Glu489Lys					DSC1_ENST00000257198.5_Missense_Mutation_p.E489K|RP11-408H20.2_ENST00000581836.1_RNA	p.E489K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		10	1726	-			489			Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1465G>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	7.867	0.727247	0.15439	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.52983	0.64;0.64	5.83	0.794	0.18638	Cadherin (3);Cadherin-like (1);	0.571899	0.15546	N	0.256708	T	0.29158	0.0725	N	0.12831	0.26	0.09310	N	1	P;P	0.52692	0.885;0.955	P;P	0.52424	0.484;0.698	T	0.20638	-1.0269	10	0.06494	T	0.89	.	3.6439	0.08177	0.1258:0.4956:0.2434:0.1352	.	489;489	Q08554;Q9HB00	DSC1_HUMAN;.	K	489	ENSP00000257197:E489K;ENSP00000257198:E489K	ENSP00000257197:E489K	E	-	1	0	DSC1	26974058	0.000000	0.05858	0.000000	0.03702	0.602000	0.36980	0.051000	0.14141	-0.139000	0.11414	-0.172000	0.13284	GAA		0.428	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		38	58	0	0	0	1	0	38	58				
HAPLN2	60484	broad.mit.edu	37	1	156593868	156593868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156593868C>T	ENST00000255039.1	+	4	762	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	119	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCGGGCGTGCGCCTGGAGGA	0.701																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(355-357)Cgc>Tgc		hyaluronan and proteoglycan link protein 2							33.0	31.0	32.0					1																	156593868		2189	4255	6444	SO:0001583	missense	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593868C>T	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.355C>T	1.37:g.156593868C>T	ENSP00000255039:p.Arg119Cys					HAPLN2_ENST00000494218.1_3'UTR	p.R119C	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN			4	762	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		119			Ig-like V-type.		Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	37	c.355C>T	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030230	0.54790	.	.	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	T;T	0.68765	-0.35;-0.35	4.24	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261394	0.36555	N	0.002532	T	0.57902	0.2085	L	0.46819	1.47	0.41141	D	0.985954	P	0.42871	0.792	P	0.52386	0.697	T	0.63717	-0.6574	10	0.72032	D	0.01	-12.9368	7.0627	0.25135	0.1686:0.5781:0.2534:0.0	.	119	Q9GZV7	HPLN2_HUMAN	C	119;92;119	ENSP00000255039:R119C;ENSP00000388835:R119C	ENSP00000255039:R119C	R	+	1	0	HAPLN2	154860492	0.006000	0.16342	1.000000	0.80357	0.141000	0.21300	0.349000	0.20055	2.364000	0.80123	0.655000	0.94253	CGC		0.701	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		13	18	0	0	0	1	0	13	18				
FEZF1	389549	broad.mit.edu	37	7	121944301	121944301	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121944301G>T	ENST00000442488.2	-	1	258	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.S64Y|FEZF1_ENST00000331178.4_Missense_Mutation_p.S64Y|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	64					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.S64Y(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAGATGCAGAGAGTGCTTGGG	0.632																																						ENST00000442488.2																			1	Substitution - Missense(1)	p.S64Y(1)	large_intestine(1)	breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(190-192)tCt>tAt		FEZ family zinc finger 1							112.0	102.0	105.0					7																	121944301		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944301G>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.191C>A	7.37:g.121944301G>T	ENSP00000411145:p.Ser64Tyr					FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.S64Y|FEZF1_ENST00000427185.2_Missense_Mutation_p.S64Y	p.S64Y	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	258	-			64					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.191C>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	17.17	3.319979	0.60634	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07021	3.24;3.38;3.23	4.65	4.65	0.58169	.	0.345945	0.34628	N	0.003812	T	0.07234	0.0183	N	0.14661	0.345	0.38043	D	0.935517	P;P	0.49447	0.79;0.924	B;B	0.41813	0.143;0.367	T	0.37572	-0.9700	10	0.49607	T	0.09	-1.2616	18.0697	0.89402	0.0:0.0:1.0:0.0	.	64;64	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	Y	64	ENSP00000411145:S64Y;ENSP00000332777:S64Y;ENSP00000392727:S64Y	ENSP00000332777:S64Y	S	-	2	0	FEZF1	121731537	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.777000	0.55364	2.560000	0.86352	0.555000	0.69702	TCT		0.632	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		35	94	1	0	1.36161e-19	1	1.78291e-19	35	94				
METTL2B	55798	broad.mit.edu	37	7	128119556	128119556	+	Nonsense_Mutation	SNP	C	C	T	rs564898982		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119556C>T	ENST00000262432.8	+	3	584	c.547C>T	c.(547-549)Cga>Tga	p.R183*	METTL2B_ENST00000480046.1_Nonsense_Mutation_p.R118*|METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGCCACCTACCGAATACTGGA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		23259	0.001		0.0	False		,,,				2504	0.0					ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(352-354)Cga>Tga		methyltransferase like 2B							69.0	78.0	75.0					7																	128119556		2188	4278	6466	SO:0001587	stop_gained	55798						methyltransferase activity	g.chr7:128119556C>T	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.547C>T	7.37:g.128119556C>T	ENSP00000262432:p.Arg183*					METTL2B_ENST00000473488.1_3'UTR|METTL2B_ENST00000262432.8_Nonsense_Mutation_p.R183*	p.R118*			Q6P1Q9	MTL2B_HUMAN			2	467	+			183					B4DZ68|Q0IJ54|Q3B7J1	Nonsense_Mutation	SNP	ENST00000262432.8	37	c.352C>T	CCDS5803.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.794948|4.794948	0.90453|0.90453	.|.	.|.	ENSG00000165055|ENSG00000165055	ENST00000419443|ENST00000462662;ENST00000262432;ENST00000480046	.|.	.|.	.|.	2.52|2.52	1.59|1.59	0.23543|0.23543	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.20618|.	0.0496|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37957|.	-0.9683|.	3|.	.|0.02654	.|T	.|1	0.0705|0.0705	8.3212|8.3212	0.32130|0.32130	0.2373:0.7626:0.0:0.0|0.2373:0.7626:0.0:0.0	.|.	.|.	.|.	.|.	L|X	5|177;183;118	.|.	.|ENSP00000262432:R183X	P|R	+|+	2|1	0|2	METTL2B|METTL2B	127906792|127906792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.133000|0.133000	0.20885|0.20885	2.824000|2.824000	0.48088|0.48088	0.373000|0.373000	0.24621|0.24621	0.194000|0.194000	0.17425|0.17425	CCG|CGA		0.408	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		5	73	0	0	0	1	0	5	73				
YIPF1	54432	broad.mit.edu	37	1	54348857	54348857	+	Nonsense_Mutation	SNP	C	C	A	rs369587889		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54348857C>A	ENST00000072644.1	-	4	460	c.124G>T	c.(124-126)Gga>Tga	p.G42*	YIPF1_ENST00000539954.1_Nonsense_Mutation_p.G67*|YIPF1_ENST00000371399.1_De_novo_Start_OutOfFrame|YIPF1_ENST00000469457.1_Intron	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	42						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CTTGGGGATCCTGGCTGATGT	0.433																																						ENST00000072644.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						c.(124-126)Gga>Tga		Yip1 domain family, member 1							149.0	140.0	143.0					1																	54348857		2203	4300	6503	SO:0001587	stop_gained	54432					integral to membrane|transport vesicle		g.chr1:54348857C>A	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.124G>T	1.37:g.54348857C>A	ENSP00000072644:p.Gly42*					YIPF1_ENST00000371399.1_De_novo_Start_OutOfFrame|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.G67*|YIPF1_ENST00000469457.1_Intron	p.G42*	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN			4	460	-			42					B2RCM7|D3DQ40|Q9NWJ1	Nonsense_Mutation	SNP	ENST00000072644.1	37	c.124G>T	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363105	0.82353	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.75	3.83	0.44106	.	0.499688	0.20928	N	0.083150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.0	9.6661	0.39986	0.0:0.8239:0.0:0.1761	.	.	.	.	X	42;67;42	.	ENSP00000072644:G42X	G	-	1	0	YIPF1	54121445	0.450000	0.25697	0.033000	0.17914	0.069000	0.16628	1.447000	0.35101	1.193000	0.43086	0.467000	0.42956	GGA		0.433	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		8	106	1	0	1.26484e-09	1	1.54084e-09	8	106				
TAS2R3	50831	broad.mit.edu	37	7	141464473	141464473	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141464473G>T	ENST00000247879.2	+	1	577	c.515G>T	c.(514-516)aGa>aTa	p.R172I	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	172					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAACACTTCAGAAAGAAGAGG	0.458																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(514-516)aGa>aTa		taste receptor, type 2, member 3							149.0	134.0	139.0					7																	141464473		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464473G>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.515G>T	7.37:g.141464473G>T	ENSP00000247879:p.Arg172Ile					SSBP1_ENST00000465582.1_Intron	p.R172I	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	577	+	Melanoma(164;0.0171)		172					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.515G>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869011	0.72065	.	.	ENSG00000127362	ENST00000247879	T	0.38077	1.16	6.04	0.0738	0.14392	.	0.499082	0.19819	N	0.105347	T	0.39759	0.1090	L	0.38531	1.155	0.09310	N	0.999999	D	0.69078	0.997	D	0.67900	0.954	T	0.13791	-1.0496	10	0.62326	D	0.03	.	4.7243	0.12933	0.4359:0.0:0.4207:0.1433	.	172	Q9NYW6	TA2R3_HUMAN	I	172	ENSP00000247879:R172I	ENSP00000247879:R172I	R	+	2	0	TAS2R3	141110942	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-0.401000	0.07232	0.153000	0.19213	0.563000	0.77884	AGA		0.458	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			9	73	1	0	0.000274275	1	0.000298791	9	73				
MYOZ2	51778	broad.mit.edu	37	4	120072113	120072113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120072113G>A	ENST00000307128.5	+	3	376	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TAACCGTGGTGCCAGGCTATT	0.388																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(163-165)Gcc>Acc		myozenin 2							140.0	131.0	134.0					4																	120072113		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120072113G>A	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.163G>A	4.37:g.120072113G>A	ENSP00000306997:p.Ala55Thr						p.A55T	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			3	376	+			55						Missense_Mutation	SNP	ENST00000307128.5	37	c.163G>A	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609791	0.87258	.	.	ENSG00000172399	ENST00000307128	T	0.65178	-0.14	5.75	4.86	0.63082	.	0.099902	0.64402	D	0.000001	T	0.65228	0.2671	L	0.51422	1.61	0.51482	D	0.999921	P	0.49358	0.923	P	0.49799	0.622	T	0.68857	-0.5298	10	0.72032	D	0.01	-14.9667	14.5157	0.67818	0.0:0.0:0.8526:0.1474	.	55	Q9NPC6	MYOZ2_HUMAN	T	55	ENSP00000306997:A55T	ENSP00000306997:A55T	A	+	1	0	MYOZ2	120291561	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	4.854000	0.62918	2.715000	0.92844	0.650000	0.86243	GCC		0.388	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			44	61	0	0	0	1	0	44	61				
CLPX	10845	broad.mit.edu	37	15	65472527	65472527	+	Missense_Mutation	SNP	C	C	T	rs142954778	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472527C>T	ENST00000300107.3	-	2	283	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	32					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CATATGAATGCGACCACCAGA	0.388																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(94-96)cGc>cAc		caseinolytic mitochondrial matrix peptidase chaperone subunit							69.0	70.0	70.0					15																	65472527		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65472527C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.95G>A	15.37:g.65472527C>T	ENSP00000300107:p.Arg32His						p.R32H	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			2	283	-			32					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.95G>A	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418100	0.83449	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.19250	2.16	5.95	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	L	0.49778	1.585	0.50813	D	0.99989	B;B	0.15719	0.014;0.008	B;B	0.10450	0.005;0.003	T	0.02683	-1.1124	10	0.87932	D	0	.	15.0137	0.71567	0.0:0.9322:0.0:0.0678	.	32;32	Q9H072;O76031	.;CLPX_HUMAN	H	32	ENSP00000300107:R32H	ENSP00000300107:R32H	R	-	2	0	CLPX	63259580	1.000000	0.71417	0.910000	0.35882	0.759000	0.43091	5.462000	0.66707	1.527000	0.49086	0.655000	0.94253	CGC		0.388	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		26	44	0	0	0	1	0	26	44				
TPO	7173	broad.mit.edu	37	2	1418251	1418251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1418251C>T	ENST00000345913.4	+	2	162	c.71C>T	c.(70-72)tCg>tTg	p.S24L	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.S24L|TPO_ENST00000329066.4_Missense_Mutation_p.S24L|TPO_ENST00000337415.3_Missense_Mutation_p.S24L|TPO_ENST00000382269.3_Missense_Mutation_p.S24L|TPO_ENST00000349624.3_Missense_Mutation_p.S24L|TPO_ENST00000346956.3_Missense_Mutation_p.S24L|TPO_ENST00000539820.1_Missense_Mutation_p.S24L|TPO_ENST00000382201.3_Missense_Mutation_p.S24L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	24					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCTTCATCTCGAGAGGGAAA	0.453																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(70-72)tCg>tTg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						78.0	72.0	74.0					2																	1418251		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1418251C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.71C>T	2.37:g.1418251C>T	ENSP00000318820:p.Ser24Leu					TPO_ENST00000346956.3_Missense_Mutation_p.S24L|TPO_ENST00000382269.3_Missense_Mutation_p.S24L|TPO_ENST00000349624.3_Missense_Mutation_p.S24L|TPO_ENST00000329066.4_Missense_Mutation_p.S24L|TPO_ENST00000337415.3_Missense_Mutation_p.S24L|TPO_ENST00000539820.1_Missense_Mutation_p.S24L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.S24L|TPO_ENST00000382198.1_Missense_Mutation_p.S24L	p.S24L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	2	162	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	24					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.71C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	2.472	-0.321735	0.05386	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.65364	0.35;-0.15;-0.12;-0.11;0.13;0.35;-0.12;-0.06;0.38;0.13	5.39	-5.78	0.02362	.	3.027190	0.01316	N	0.010775	T	0.23532	0.0569	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B	0.12630	0.002;0.001;0.006;0.002;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.31998	-0.9923	10	0.07990	T	0.79	-5.0879	2.9037	0.05714	0.214:0.0788:0.4272:0.28	.	24;24;24;24;24	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	L	24	ENSP00000371704:S24L;ENSP00000337263:S24L;ENSP00000318820:S24L;ENSP00000263886:S24L;ENSP00000332044:S24L;ENSP00000444840:S24L;ENSP00000329869:S24L;ENSP00000371636:S24L;ENSP00000390994:S24L;ENSP00000371633:S24L	ENSP00000329869:S24L	S	+	2	0	TPO	1397258	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.829000	0.04415	-0.597000	0.05813	-1.261000	0.01458	TCG		0.453	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	11	0	0	0	1	0	13	11				
KMT2B	9757	broad.mit.edu	37	19	36213916	36213916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36213916G>T	ENST00000222270.7	+	6	2742	c.2742G>T	c.(2740-2742)gaG>gaT	p.E914D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E914D	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	914					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGGCGTCCGAGACTGAGAGTG	0.622																																						ENST00000420124.1																			0											c.(2740-2742)gaG>gaT									22.0	27.0	25.0					19																	36213916		2033	4163	6196	SO:0001583	missense	0							g.chr19:36213916G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2742G>T	19.37:g.36213916G>T	ENSP00000222270:p.Glu914Asp					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.E914D	p.E914D							6	2742	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2742G>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350630	0.24512	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83992	-1.79;-1.79	5.82	4.79	0.61399	.	0.000000	0.40908	D	0.000985	D	0.85890	0.5802	L	0.40543	1.245	0.38594	D	0.95049	D	0.64830	0.994	D	0.70716	0.97	D	0.86013	0.1502	10	0.38643	T	0.18	.	12.3176	0.54966	0.0796:0.0:0.9204:0.0	.	914	Q9UMN6	MLL4_HUMAN	D	914	ENSP00000222270:E914D;ENSP00000398837:E914D	ENSP00000222270:E914D	E	+	3	2	AD000671.1	40905756	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	1.274000	0.33132	1.470000	0.48102	-0.150000	0.13652	GAG		0.622	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	12	1	0	0.00198382	1	0.00210581	6	12				
BRWD1	54014	broad.mit.edu	37	21	40630542	40630542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40630542G>A	ENST00000333229.2	-	18	2269	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	BRWD1_ENST00000380800.3_Missense_Mutation_p.R648C|BRWD1_ENST00000342449.3_Missense_Mutation_p.R648C	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	648					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTGGGCTGCGTTCATCATTA	0.368																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(1942-1944)Cgc>Tgc		bromodomain and WD repeat domain containing 1							140.0	126.0	131.0					21																	40630542		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40630542G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1942C>T	21.37:g.40630542G>A	ENSP00000330753:p.Arg648Cys					BRWD1_ENST00000333229.2_Missense_Mutation_p.R648C|BRWD1_ENST00000380800.3_Missense_Mutation_p.R648C	p.R648C	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			18	2020	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	648					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1942C>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.170|6.170	0.399558|0.399558	0.11696|0.11696	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.55234|.	0.53;0.55;0.63|.	5.33|5.33	2.4|2.4	0.29515|0.29515	.|.	1.140370|.	0.06430|.	N|.	0.723861|.	T|T	0.27663|0.27663	0.0680|0.0680	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999972|0.999972	P;P;D;P|.	0.62365|.	0.698;0.937;0.991;0.909|.	B;B;B;B|.	0.43916|.	0.132;0.109;0.436;0.252|.	T|T	0.15983|0.15983	-1.0418|-1.0418	10|5	0.59425|.	D|.	0.04|.	1.3059|1.3059	16.6609|16.6609	0.85240|0.85240	0.0:0.4605:0.5395:0.0|0.0:0.4605:0.5395:0.0	.|.	359;359;648;648|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	C|M	648|359	ENSP00000330753:R648C;ENSP00000344333:R648C;ENSP00000370178:R648C|.	ENSP00000330753:R648C|.	R|T	-|-	1|2	0|0	BRWD1|BRWD1	39552412|39552412	0.065000|0.065000	0.20965|0.20965	0.036000|0.036000	0.18154|0.18154	0.138000|0.138000	0.21146|0.21146	1.867000|1.867000	0.39499|0.39499	0.180000|0.180000	0.19960|0.19960	-0.305000|-0.305000	0.09177|0.09177	CGC|ACG		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		52	78	0	0	0	1	0	52	78				
KIAA1033	23325	broad.mit.edu	37	12	105551100	105551100	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105551100G>T	ENST00000332180.5	+	28	2999	c.2912G>T	c.(2911-2913)aGg>aTg	p.R971M		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAGCAGCAAGGTAATCTAAA	0.274																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.e28+1		KIAA1033							54.0	49.0	51.0					12																	105551100		1789	4055	5844	SO:0001630	splice_region_variant	23325				endosome transport	WASH complex		g.chr12:105551100G>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2912+1G>T	12.37:g.105551100G>T							p.R971_splice	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			28	2999	+			971						Splice_Site	SNP	ENST00000332180.5	37	c.2912_splice	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275182	0.80580	.	.	ENSG00000136051	ENST00000332180;ENST00000551224	T;T	0.78126	-1.15;-1.15	5.26	5.26	0.73747	.	0.083484	0.85682	D	0.000000	T	0.80686	0.4670	M	0.62723	1.935	0.80722	D	1	P;P	0.42620	0.785;0.785	P;P	0.44946	0.465;0.465	T	0.82855	-0.0251	10	0.62326	D	0.03	.	18.8868	0.92381	0.0:0.0:1.0:0.0	.	972;971	B7ZKT9;Q2M389	.;WASH7_HUMAN	M	971;49	ENSP00000328062:R971M;ENSP00000447015:R49M	ENSP00000328062:R971M	R	+	2	0	KIAA1033	104075230	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.740000	0.84986	2.460000	0.83146	0.467000	0.42956	AGG		0.274	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	Missense_Mutation	4	32	1	0	0.150653	1	0.152692	4	32				
TEX264	51368	broad.mit.edu	37	3	51733425	51733425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51733425C>T	ENST00000415259.1	+	4	1565	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	TEX264_ENST00000395057.1_Missense_Mutation_p.R162W|TEX264_ENST00000416589.1_Missense_Mutation_p.R162W|TEX264_ENST00000341333.5_Missense_Mutation_p.R162W|TEX264_ENST00000457573.1_Missense_Mutation_p.R162W|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	162						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGACTAGGAGCGGAAGCTGTG	0.542																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(484-486)Cgg>Tgg		testis expressed 264							106.0	104.0	104.0					3																	51733425		2203	4300	6503	SO:0001583	missense	51368					extracellular region		g.chr3:51733425C>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.484C>T	3.37:g.51733425C>T	ENSP00000396628:p.Arg162Trp					TEX264_ENST00000457573.1_Missense_Mutation_p.R162W|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000416589.1_Missense_Mutation_p.R162W|TEX264_ENST00000395057.1_Missense_Mutation_p.R162W|TEX264_ENST00000341333.5_Missense_Mutation_p.R162W	p.R162W			Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	4	1565	+			162					B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	c.484C>T	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535647	0.45176	.	.	ENSG00000164081	ENST00000457573;ENST00000341333;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T	0.02890	4.12;4.12;4.12;4.12;4.12;4.12;4.12	4.92	4.92	0.64577	Regulatory factor, effector, bacterial (1);	0.120479	0.52532	D	0.000066	T	0.12774	0.0310	M	0.72894	2.215	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00079	-1.2112	10	0.87932	D	0	0.4933	11.1077	0.48212	0.2978:0.7022:0.0:0.0	.	162;162	Q53GI2;Q9Y6I9	.;TX264_HUMAN	W	162	ENSP00000408186:R162W;ENSP00000340969:R162W;ENSP00000396628:R162W;ENSP00000378497:R162W;ENSP00000398802:R162W;ENSP00000407151:R162W;ENSP00000415957:R162W	ENSP00000340969:R162W	R	+	1	2	TEX264	51708465	1.000000	0.71417	0.994000	0.49952	0.143000	0.21401	2.187000	0.42602	2.300000	0.77407	0.478000	0.44815	CGG		0.542	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		5	73	0	0	0	1	0	5	73				
HRC	3270	broad.mit.edu	37	19	49658016	49658016	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658016T>C	ENST00000252825.4	-	1	665	c.479A>G	c.(478-480)cAt>cGt	p.H160R	HRC_ENST00000595625.1_Missense_Mutation_p.H160R|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	160	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCGTCTTGATGGCTGTGGCT	0.582																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(478-480)cAt>cGt		histidine rich calcium binding protein							211.0	155.0	174.0					19																	49658016		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658016T>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.479A>G	19.37:g.49658016T>C	ENSP00000252825:p.His160Arg					HRC_ENST00000595625.1_Missense_Mutation_p.H160R	p.H160R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	665	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	160			4 X tandem repeats, acidic.|6 X approximate tandem repeats.		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.479A>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	8.390	0.839612	0.16891	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06371	3.31	2.35	0.0379	0.14198	.	.	.	.	.	T	0.08179	0.0204	M	0.71206	2.165	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29427	-1.0012	9	0.44086	T	0.13	4.7381	5.8411	0.18635	0.0:0.432:0.0:0.568	.	160	P23327	SRCH_HUMAN	R	160;130	ENSP00000252825:H160R	ENSP00000252825:H160R	H	-	2	0	HRC	54349828	0.001000	0.12720	0.002000	0.10522	0.172000	0.22775	-0.058000	0.11750	-0.081000	0.12662	0.379000	0.24179	CAT		0.582	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		13	41	0	0	0	1	0	13	41				
SLC5A9	200010	broad.mit.edu	37	1	48697656	48697656	+	Missense_Mutation	SNP	C	C	T	rs149962239	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:48697656C>T	ENST00000438567.2	+	7	782	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000236495.5_Missense_Mutation_p.R269W|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R265W	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	244					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCTGGAGCAGCGGTACAGGCA	0.612													C|||	5	0.000998403	0.0038	0.0	5008	,	,		19120	0.0		0.0	False		,,,				2504	0.0					ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(805-807)Cgg>Tgg		solute carrier family 5 (sodium/sugar cotransporter), member 9		C	TRP/ARG,TRP/ARG	10,4396	16.8+/-37.8	0,10,2193	119.0	112.0	114.0		730,805	3.8	1.0	1	dbSNP_134	114	0,8600		0,0,4300	yes	missense,missense	SLC5A9	NM_001011547.2,NM_001135181.1	101,101	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging,probably-damaging	244/682,269/707	48697656	10,12996	2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48697656C>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.730C>T	1.37:g.48697656C>T	ENSP00000401730:p.Arg244Trp					SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R244W|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R265W	p.R269W	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			8	855	+			244		I -> M (in dbSNP:rs212991).			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.805C>T	CCDS30709.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.0	4.083600	0.76642	0.00227	0.0	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.88741	-2.42;-2.42;-2.42	5.8	3.78	0.43462	.	0.539337	0.20629	N	0.088624	D	0.92172	0.7518	M	0.72118	2.19	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	P;P;P	0.60345	0.873;0.773;0.849	D	0.92573	0.6068	10	0.87932	D	0	.	11.9225	0.52799	0.534:0.466:0.0:0.0	.	265;244;269	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	W	265;244;269	ENSP00000431900:R265W;ENSP00000401730:R244W;ENSP00000236495:R269W	ENSP00000236495:R269W	R	+	1	2	SLC5A9	48470243	0.007000	0.16637	0.990000	0.47175	0.993000	0.82548	2.178000	0.42519	1.455000	0.47813	0.563000	0.77884	CGG		0.612	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		25	58	0	0	0	1	0	25	58				
OLFM3	118427	broad.mit.edu	37	1	102270305	102270305	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102270305C>A	ENST00000338858.5	-	6	925	c.926G>T	c.(925-927)aGt>aTt	p.S309I	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.S289I|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	309	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGATATTACTCTGATACTT	0.433																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(865-867)aGt>aTt		olfactomedin 3							96.0	93.0	94.0					1																	102270305		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270305C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.926G>T	1.37:g.102270305C>A	ENSP00000345192:p.Ser309Ile					OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.S309I	p.S289I	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1079	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	309			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.866G>T		.	.	.	.	.	.	.	.	.	.	C	20.5	3.997346	0.74818	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.90900	-2.75;-2.75	5.35	5.35	0.76521	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.995	D	0.97120	0.9810	10	0.87932	D	0	.	19.056	0.93066	0.0:1.0:0.0:0.0	.	289;309	Q5T3V6;Q96PB7	.;NOE3_HUMAN	I	160;289;309	ENSP00000359121:S289I;ENSP00000345192:S309I	ENSP00000345192:S309I	S	-	2	0	OLFM3	102042893	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.510000	0.84645	0.650000	0.86243	AGT		0.433	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			26	67	1	0	8.58068e-18	1	1.11523e-17	26	67				
CEP290	80184	broad.mit.edu	37	12	88500547	88500547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88500547G>A	ENST00000552810.1	-	25	3065	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.R910*|CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000547691.2_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	908					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTAAGTTGTCGCTCCAATTCT	0.308																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(2722-2724)Cga>Tga		centrosomal protein 290kDa							97.0	88.0	91.0					12																	88500547		1819	4071	5890	SO:0001587	stop_gained	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88500547G>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2722C>T	12.37:g.88500547G>A	ENSP00000448012:p.Arg908*					CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Nonsense_Mutation_p.R910*	p.R908*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			25	3065	-			908					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	c.2722C>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	43	10.486725	0.99414	.	.	ENSG00000198707	ENST00000552810;ENST00000309041	.	.	.	5.89	4.03	0.46877	.	0.137951	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	14.6318	0.68660	0.0:0.0:0.6031:0.3969	.	.	.	.	X	908;910	.	ENSP00000308021:R910X	R	-	1	2	CEP290	87024678	0.996000	0.38824	0.996000	0.52242	0.904000	0.53231	4.850000	0.62889	0.777000	0.33496	0.557000	0.71058	CGA		0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		10	20	0	0	0	1	0	10	20				
ARHGEF15	22899	broad.mit.edu	37	17	8216239	8216239	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8216239G>T	ENST00000361926.3	+	3	711		c.e3-1		ARHGEF15_ENST00000421050.1_Splice_Site	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15						negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTCTCCCACAGATGCTGGCCT	0.632																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.e3-1		Rho guanine nucleotide exchange factor (GEF) 15							82.0	98.0	92.0					17																	8216239		2198	4287	6485	SO:0001630	splice_region_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216239G>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.602-1G>T	17.37:g.8216239G>T						ARHGEF15_ENST00000421050.1_Splice_Site		NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	711	+								A8K6G1|Q8N449|Q9H8B4	Splice_Site	SNP	ENST00000361926.3	37		CCDS11139.1	.	.	.	.	.	.	.	.	.	.	G	8.605	0.887775	0.17540	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7502	0.57304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF15	8156964	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	1.946000	0.40283	2.371000	0.80710	0.555000	0.69702	.		0.632	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728	Intron	8	190	1	0	1.06961e-07	1	1.26574e-07	8	190				
HMGCS2	3158	broad.mit.edu	37	1	120301770	120301770	+	Missense_Mutation	SNP	C	C	T	rs370058829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120301770C>T	ENST00000369406.3	-	4	870	c.821G>A	c.(820-822)cGt>cAt	p.R274H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R232H|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	274					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.R274H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GATTTTTTTACGGTATGATGT	0.468																																						ENST00000369406.3																			1	Substitution - Missense(1)	p.R274H(1)	lung(1)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(820-822)cGt>cAt		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131.0	130.0	130.0		695,821	3.4	0.1	1		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HMGCS2	NM_001166107.1,NM_005518.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	232/467,274/509	120301770	1,13005	2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120301770C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.821G>A	1.37:g.120301770C>T	ENSP00000358414:p.Arg274His					HMGCS2_ENST00000544913.2_Missense_Mutation_p.R232H|HMGCS2_ENST00000476640.1_Intron	p.R274H	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	4	870	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	274					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.821G>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551547	0.45487	0.0	1.16E-4	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.77098	-1.07;-1.07	5.26	3.39	0.38822	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.095785	0.46442	D	0.000290	D	0.82582	0.5068	M	0.84683	2.71	0.46954	D	0.999265	D;D	0.76494	0.999;0.999	P;D	0.67103	0.901;0.949	T	0.82165	-0.0592	10	0.39692	T	0.17	1.9809	10.7418	0.46158	0.0:0.8429:0.0:0.1571	.	232;274	B7Z8R3;P54868	.;HMCS2_HUMAN	H	274;232	ENSP00000358414:R274H;ENSP00000439495:R232H	ENSP00000358414:R274H	R	-	2	0	HMGCS2	120103293	1.000000	0.71417	0.146000	0.22360	0.012000	0.07955	4.564000	0.60830	0.602000	0.29896	0.655000	0.94253	CGT		0.468	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		31	46	0	0	0	1	0	31	46				
NLRP8	126205	broad.mit.edu	37	19	56459555	56459555	+	Missense_Mutation	SNP	G	G	A	rs145352424	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56459555G>A	ENST00000291971.3	+	1	358	c.287G>A	c.(286-288)cGc>cAc	p.R96H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R96H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	96	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R96H(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTGGACGACGCGCTTGGGAT	0.512													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18327	0.0		0.0	False		,,,				2504	0.0					ENST00000291971.3																			1	Substitution - Missense(1)	p.R96H(1)	endometrium(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(286-288)cGc>cAc		NLR family, pyrin domain containing 8		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	105.0	108.0		287	-3.6	0.0	19	dbSNP_134	108	0,8600		0,0,4300	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	96/1049	56459555	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459555G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.287G>A	19.37:g.56459555G>A	ENSP00000291971:p.Arg96His					NLRP8_ENST00000590542.1_Missense_Mutation_p.R96H	p.R96H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	358	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	96			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.287G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169254	0.21621	2.27E-4	0.0	ENSG00000179709	ENST00000291971	T	0.50813	0.73	1.79	-3.59	0.04583	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.45034	0.1322	L	0.40543	1.245	0.09310	N	1	D;D	0.65815	0.99;0.995	P;P	0.60789	0.497;0.879	T	0.34129	-0.9841	9	0.44086	T	0.13	.	1.0884	0.01658	0.2384:0.1573:0.4028:0.2015	.	96;96	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	96	ENSP00000291971:R96H	ENSP00000291971:R96H	R	+	2	0	NLRP8	61151367	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.917000	0.01575	-2.135000	0.00811	-0.351000	0.07748	CGC		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		16	13	0	0	0	1	0	16	13				
RSPRY1	89970	broad.mit.edu	37	16	57272840	57272840	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57272840C>T	ENST00000537866.1	+	15	2557	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R562C|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	562						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCATTGTGTCGTAAAGAAAT	0.418																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(1684-1686)Cgt>Tgt		ring finger and SPRY domain containing 1							112.0	96.0	101.0					16																	57272840		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57272840C>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1684C>T	16.37:g.57272840C>T	ENSP00000443176:p.Arg562Cys					RSPRY1_ENST00000394420.4_Missense_Mutation_p.R562C|RSPRY1_ENST00000563073.1_3'UTR	p.R562C			Q96DX4	RSPRY_HUMAN			15	2557	+			562					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1684C>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237209	0.79800	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.76578	-1.03;-1.03	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91984	0.5597	10	0.87932	D	0	.	19.9133	0.97031	0.0:1.0:0.0:0.0	.	562	Q96DX4	RSPRY_HUMAN	C	562	ENSP00000377942:R562C;ENSP00000443176:R562C	ENSP00000377942:R562C	R	+	1	0	RSPRY1	55830341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.431000	0.80335	2.721000	0.93114	0.655000	0.94253	CGT		0.418	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		25	40	0	0	0	1	0	25	40				
GALNT6	11226	broad.mit.edu	37	12	51758007	51758007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51758007C>T	ENST00000543196.2	-	5	1152	c.947G>A	c.(946-948)aGa>aAa	p.R316K	GALNT6_ENST00000356317.3_Missense_Mutation_p.R316K			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	316					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTATGGACTCTGCCCCTCTG	0.557																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(946-948)aGa>aAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							107.0	98.0	101.0					12																	51758007		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51758007C>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.947G>A	12.37:g.51758007C>T	ENSP00000444171:p.Arg316Lys					GALNT6_ENST00000356317.3_Missense_Mutation_p.R316K	p.R316K			Q8NCL4	GALT6_HUMAN			5	1152	-			316					Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.947G>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	2.000	-0.429593	0.04701	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.59083	0.29;0.29	4.59	2.74	0.32292	Glycosyl transferase, family 2 (1);	0.167404	0.36665	N	0.002473	T	0.29524	0.0736	N	0.04880	-0.145	0.19575	N	0.999967	B	0.02656	0.0	B	0.06405	0.002	T	0.11203	-1.0597	10	0.25106	T	0.35	.	5.8415	0.18637	0.0:0.6004:0.0:0.3996	.	316	Q8NCL4	GALT6_HUMAN	K	316;316;297	ENSP00000444171:R316K;ENSP00000348668:R316K	ENSP00000348668:R316K	R	-	2	0	GALNT6	50044274	0.173000	0.23056	0.989000	0.46669	0.733000	0.41908	0.717000	0.25851	0.840000	0.34995	0.655000	0.94253	AGA		0.557	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		20	36	0	0	0	1	0	20	36				
SERPINB1	1992	broad.mit.edu	37	6	2836162	2836162	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2836162G>A	ENST00000380739.5	-	6	865	c.663C>T	c.(661-663)taC>taT	p.Y221Y	SERPINB1_ENST00000476896.1_5'Flank|SERPINB1_ENST00000537185.1_Silent_p.Y70Y	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	221					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CCTCGCCTTGGTAAGGCAGTT	0.488																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(661-663)taC>taT		serpin peptidase inhibitor, clade B (ovalbumin), member 1							97.0	88.0	91.0					6																	2836162		2203	4300	6503	SO:0001819	synonymous_variant	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2836162G>A	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.663C>T	6.37:g.2836162G>A						SERPINB1_ENST00000537185.1_Silent_p.Y70Y	p.Y221Y			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	6	865	-	Ovarian(93;0.0412)		221					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Silent	SNP	ENST00000380739.5	37	c.663C>T	CCDS4477.1																																																																																				0.488	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			7	30	0	0	0	1	0	7	30				
EVC	2121	broad.mit.edu	37	4	5811321	5811321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5811321C>T	ENST00000264956.6	+	19	2949	c.2765C>T	c.(2764-2766)gCt>gTt	p.A922V	EVC_ENST00000382674.2_Missense_Mutation_p.A922V	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	922					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGTTGCCTGCTAAGCGTGGG	0.542																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2764-2766)gCt>gTt		Ellis van Creveld syndrome							83.0	68.0	73.0					4																	5811321		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5811321C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2765C>T	4.37:g.5811321C>T	ENSP00000264956:p.Ala922Val					EVC_ENST00000264956.6_Missense_Mutation_p.A922V	p.A922V			P57679	EVC_HUMAN			19	2949	+		Myeloproliferative disorder(84;0.117)	922						Missense_Mutation	SNP	ENST00000264956.6	37	c.2765C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616080	0.28801	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.52526	0.66;0.66	4.26	-6.06	0.02165	.	0.766407	0.11880	N	0.520640	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.24721	0.11	B	0.22152	0.038	T	0.12528	-1.0544	10	0.37606	T	0.19	.	7.5701	0.27902	0.5751:0.2732:0.1517:0.0	.	922	P57679	EVC_HUMAN	V	922	ENSP00000264956:A922V;ENSP00000372120:A922V	ENSP00000264956:A922V	A	+	2	0	EVC	5862222	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.491000	0.02302	-1.408000	0.02040	-0.211000	0.12701	GCT		0.542	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			12	20	0	0	0	1	0	12	20				
SPAG17	200162	broad.mit.edu	37	1	118634246	118634246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634246G>A	ENST00000336338.5	-	10	1407	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	448						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCATACAATGCAGTATCAGG	0.383																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1342-1344)Cat>Tat		sperm associated antigen 17							73.0	70.0	71.0					1																	118634246		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118634246G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1342C>T	1.37:g.118634246G>A	ENSP00000337804:p.His448Tyr						p.H448Y	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	10	1407	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	448					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1342C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836047	0.50951	.	.	ENSG00000155761	ENST00000336338	T	0.24350	1.86	5.76	4.77	0.60923	.	0.096147	0.64402	D	0.000001	T	0.30103	0.0754	M	0.64404	1.975	0.25903	N	0.983322	D	0.65815	0.995	P	0.58266	0.836	T	0.03268	-1.1054	10	0.72032	D	0.01	.	12.4484	0.55664	0.0:0.1038:0.7333:0.1629	.	448	Q6Q759	SPG17_HUMAN	Y	448	ENSP00000337804:H448Y	ENSP00000337804:H448Y	H	-	1	0	SPAG17	118435769	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.548000	0.53670	2.724000	0.93272	0.650000	0.86243	CAT		0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	17	0	0	0	1	0	12	17				
TMPPE	643853	broad.mit.edu	37	3	33135232	33135232	+	Silent	SNP	G	G	A	rs148801297	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33135232G>A	ENST00000342462.4	-	2	646	c.456C>T	c.(454-456)gtC>gtT	p.V152V	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Silent_p.V15V	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	152						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGCTGCCCACGACCCTACCAC	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19837	0.0		0.0	False		,,,				2504	0.0					ENST00000342462.4																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(454-456)gtC>gtT		transmembrane protein with metallophosphoesterase domain		G	,,,,	0,4406		0,0,2203	30.0	30.0	30.0		,456,,,45	-4.2	0.0	3	dbSNP_134	30	1,8599	2.2+/-6.3	0,1,4299	no	intron,coding-synonymous,intron,intron,coding-synonymous	GLB1,TMPPE	NM_000404.2,NM_001039770.2,NM_001079811.1,NM_001135602.1,NM_001136238.1	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,152/454,,,15/317	33135232	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	643853					integral to membrane	metal ion binding	g.chr3:33135232G>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.456C>T	3.37:g.33135232G>A						GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Silent_p.V15V|GLB1_ENST00000307363.5_Intron	p.V152V	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN			2	646	-			152					B2RNG5|Q6ZRG1	Silent	SNP	ENST00000342462.4	37	c.456C>T	CCDS33732.1																																																																																				0.612	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		9	7	0	0	0	1	0	9	7				
TARBP1	6894	broad.mit.edu	37	1	234556471	234556471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234556471C>A	ENST00000040877.1	-	21	3531	c.3532G>T	c.(3532-3534)Gta>Tta	p.V1178L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1178					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGAAAAGTACCAGCAGAGTC	0.368																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3532-3534)Gta>Tta		TAR (HIV-1) RNA binding protein 1							111.0	118.0	116.0					1																	234556471		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556471C>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3532G>T	1.37:g.234556471C>A	ENSP00000040877:p.Val1178Leu						p.V1178L	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3531	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1178					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3532G>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622704	0.28889	.	.	ENSG00000059588	ENST00000040877	T	0.29655	1.56	5.74	3.88	0.44766	Armadillo-type fold (1);	0.361314	0.29403	N	0.012252	T	0.24586	0.0596	L	0.43152	1.355	0.09310	N	0.999995	B	0.24963	0.115	B	0.26416	0.069	T	0.16630	-1.0396	10	0.26408	T	0.33	-4.1553	9.2049	0.37282	0.0:0.7779:0.0:0.222	.	1178	Q13395	TARB1_HUMAN	L	1178	ENSP00000040877:V1178L	ENSP00000040877:V1178L	V	-	1	0	TARBP1	232623094	0.046000	0.20272	0.023000	0.16930	0.966000	0.64601	0.304000	0.19228	0.778000	0.33520	0.650000	0.86243	GTA		0.368	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		11	77	1	0	9.05144e-12	1	1.1316e-11	11	77				
ENPP6	133121	broad.mit.edu	37	4	185074733	185074733	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185074733C>A	ENST00000296741.2	-	2	536	c.395G>T	c.(394-396)aGg>aTg	p.R132M		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	132					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTAGACCTTCCTTTTGGCCTT	0.473																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(394-396)aGg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 6							134.0	113.0	120.0					4																	185074733		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185074733C>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.395G>T	4.37:g.185074733C>A	ENSP00000296741:p.Arg132Met						p.R132M	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	2	536	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	132					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.395G>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311521	0.60414	.	.	ENSG00000164303	ENST00000296741;ENST00000512353	T;T	0.75050	-0.9;-0.9	5.44	3.72	0.42706	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.084363	0.85682	D	0.000000	T	0.71143	0.3305	L	0.50333	1.59	0.36740	D	0.882171	P	0.40066	0.701	P	0.45276	0.475	T	0.73889	-0.3840	10	0.56958	D	0.05	-26.9967	8.3659	0.32387	0.0:0.6807:0.0:0.3193	.	132	Q6UWR7	ENPP6_HUMAN	M	132;44	ENSP00000296741:R132M;ENSP00000423497:R44M	ENSP00000296741:R132M	R	-	2	0	ENPP6	185311727	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.016000	0.40971	0.681000	0.31386	0.655000	0.94253	AGG		0.473	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		14	23	1	0	1.3612e-06	1	1.57881e-06	14	23				
TCOF1	6949	broad.mit.edu	37	5	149749101	149749101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149749101C>T	ENST00000504761.2	+	6	575	c.575C>T	c.(574-576)tCa>tTa	p.S192L	TCOF1_ENST00000323668.7_Missense_Mutation_p.S192L|TCOF1_ENST00000439160.2_Missense_Mutation_p.S192L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S192L|TCOF1_ENST00000394269.3_Missense_Mutation_p.S192L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S192L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S192L|TCOF1_ENST00000451292.1_Missense_Mutation_p.S192L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	192					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATGGTGTCAGCGGGCCAG	0.632																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(574-576)tCa>tTa		Treacher Collins-Franceschetti syndrome 1							87.0	76.0	80.0					5																	149749101		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149749101C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.575C>T	5.37:g.149749101C>T	ENSP00000421655:p.Ser192Leu					TCOF1_ENST00000439160.2_Missense_Mutation_p.S192L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S192L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S192L|TCOF1_ENST00000394269.3_Missense_Mutation_p.S192L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S192L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S192L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S192L	p.S192L			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	683	+		all_hematologic(541;0.224)	192					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.575C>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068000	0.76301	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.80653	-1.06;-1.13;-1.39;-1.4;-1.07;1.57;-1.07;-1.07;-1.07	3.36	3.36	0.38483	.	0.000000	0.30911	N	0.008637	D	0.83801	0.5333	L	0.57536	1.79	0.09310	N	1	D;D;D;D;D;D	0.67145	0.993;0.992;0.993;0.972;0.992;0.996	P;P;P;P;P;P	0.59889	0.848;0.774;0.848;0.615;0.774;0.865	T	0.74934	-0.3495	10	0.72032	D	0.01	-1.951	10.4936	0.44764	0.0:1.0:0.0:0.0	.	192;192;192;192;192;192	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	L	192	ENSP00000400939:S192L;ENSP00000367028:S192L;ENSP00000409944:S192L;ENSP00000325223:S192L;ENSP00000406888:S192L;ENSP00000377811:S192L;ENSP00000390717:S192L;ENSP00000421655:S192L;ENSP00000427484:S192L	ENSP00000325223:S192L	S	+	2	0	TCOF1	149729294	0.089000	0.21612	0.083000	0.20561	0.554000	0.35429	2.623000	0.46435	2.196000	0.70406	0.462000	0.41574	TCA		0.632	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		10	30	0	0	0	1	0	10	30				
BEND4	389206	broad.mit.edu	37	4	42119622	42119622	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42119622G>A	ENST00000502486.1	-	6	2097	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	506										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ATGAGCCACCGTTGTGCAGGA	0.532																																						ENST00000502486.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1516-1518)aaC>aaT		BEN domain containing 4							47.0	46.0	46.0					4																	42119622		1860	4092	5952	SO:0001819	synonymous_variant	389206							g.chr4:42119622G>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1518C>T	4.37:g.42119622G>A						BEND4_ENST00000504360.1_3'UTR	p.N506N	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN			6	2097	-			506					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	c.1518C>T	CCDS47048.1																																																																																				0.532	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		5	8	0	0	0	1	0	5	8				
SDK1	221935	broad.mit.edu	37	7	4260953	4260953	+	Silent	SNP	C	C	T	rs375937536		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4260953C>T	ENST00000404826.2	+	40	5923	c.5784C>T	c.(5782-5784)ggC>ggT	p.G1928G	SDK1_ENST00000389531.3_Silent_p.G1908G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1928	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACACTCTGGCGACACACCTA	0.622																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5782-5784)ggC>ggT		sidekick cell adhesion molecule 1		T		0,4406		0,0,2203	56.0	43.0	48.0		5784	-3.0	0.0	7		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1928/2214	4260953	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4260953C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5784C>T	7.37:g.4260953C>T						SDK1_ENST00000389531.3_Silent_p.G1908G	p.G1928G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	40	5923	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1928			Fibronectin type-III 13.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.5784C>T	CCDS34590.1																																																																																				0.622	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	6	0	0	0	1	0	4	6				
NAV3	89795	broad.mit.edu	37	12	78513689	78513689	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513689C>A	ENST00000397909.2	+	15	3886	c.3713C>A	c.(3712-3714)tCc>tAc	p.S1238Y	NAV3_ENST00000266692.7_Missense_Mutation_p.S1238Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S1238Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S1238Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1238	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCCAGGATCCAAGTATCCA	0.448										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3712-3714)tCc>tAc		neuron navigator 3							59.0	60.0	60.0					12																	78513689		1881	4118	5999	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513689C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3713C>A	12.37:g.78513689C>A	ENSP00000381007:p.Ser1238Tyr	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S1238Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S1238Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S1238Y	p.S1238Y			Q8IVL0	NAV3_HUMAN			15	3886	+			1238			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3713C>A		.	.	.	.	.	.	.	.	.	.	C	24.6	4.549873	0.86127	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.33654	1.54;1.54;1.53;1.4	5.31	5.31	0.75309	.	0.000000	0.40064	U	0.001197	T	0.60090	0.2242	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.999;0.995	D;D;D;D	0.91635	0.921;0.999;0.997;0.914	T	0.62464	-0.6849	10	0.72032	D	0.01	-11.8239	18.9828	0.92761	0.0:1.0:0.0:0.0	.	1238;1238;1238;1238	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	Y	1238	ENSP00000446132:S1238Y;ENSP00000381007:S1238Y;ENSP00000228327:S1238Y;ENSP00000266692:S1238Y	ENSP00000228327:S1238Y	S	+	2	0	NAV3	77037820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.552000	0.82192	2.484000	0.83849	0.655000	0.94253	TCC		0.448	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	36	1	0	3.86212e-05	1	4.30401e-05	11	36				
OPRM1	4988	broad.mit.edu	37	6	154439843	154439843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154439843C>A	ENST00000330432.7	+	4	1427	c.1190C>A	c.(1189-1191)gCt>gAt	p.A397D	OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000518759.1_Missense_Mutation_p.A316D|OPRM1_ENST00000522236.1_Missense_Mutation_p.A297D|OPRM1_ENST00000520708.1_Missense_Mutation_p.A297D|OPRM1_ENST00000522555.1_Missense_Mutation_p.A297D|OPRM1_ENST00000434900.2_Missense_Mutation_p.A490D	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	397					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCAGAAACTGCTCCGTTGCCC	0.463																																						ENST00000522236.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(889-891)gCt>gAt		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						211.0	202.0	205.0					6																	154439843		1906	4127	6033	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154439843C>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1190C>A	6.37:g.154439843C>A	ENSP00000328264:p.Ala397Asp					OPRM1_ENST00000522555.1_Missense_Mutation_p.A297D|OPRM1_ENST00000434900.2_Missense_Mutation_p.A490D|OPRM1_ENST00000330432.7_Missense_Mutation_p.A397D|OPRM1_ENST00000518759.1_Missense_Mutation_p.A316D|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000520708.1_Missense_Mutation_p.A297D	p.A297D	NM_001145287.1	NP_001138759.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	2198	+		Ovarian(120;0.196)	397					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.890C>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913327	0.52439	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000522555;ENST00000522236	T;T;T;T;T;T	0.73575	-0.57;-0.75;-0.76;-0.52;-0.75;-0.75	5.49	4.62	0.57501	.	12.730800	0.00166	N	0.000000	T	0.52885	0.1762	N	0.22421	0.69	0.80722	D	1	P;B;B	0.35908	0.527;0.054;0.002	B;B;B	0.36289	0.221;0.018;0.001	T	0.34875	-0.9811	10	0.66056	D	0.02	.	10.8014	0.46491	0.0:0.9112:0.0:0.0888	.	490;316;397	P35372-10;B8Q1L9;P35372	.;.;OPRM_HUMAN	D	490;297;316;397;297;297	ENSP00000394624:A490D;ENSP00000430876:A297D;ENSP00000430260:A316D;ENSP00000328264:A397D;ENSP00000429719:A297D;ENSP00000429373:A297D	ENSP00000328264:A397D	A	+	2	0	OPRM1	154481535	0.985000	0.35326	0.965000	0.40720	0.815000	0.46073	1.832000	0.39151	1.445000	0.47624	0.563000	0.77884	GCT		0.463	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		54	78	1	0	9.53978e-28	1	1.27394e-27	54	78				
SMG8	55181	broad.mit.edu	37	17	57289832	57289832	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57289832T>C	ENST00000543872.2	+	3	2154	c.1890T>C	c.(1888-1890)aaT>aaC	p.N630N	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.N630N|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	630					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAGCAGCCAATTATGACTTCT	0.378																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1888-1890)aaT>aaC		SMG8 nonsense mediated mRNA decay factor							85.0	92.0	89.0					17																	57289832		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57289832T>C	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1890T>C	17.37:g.57289832T>C						SMG8_ENST00000300917.5_Silent_p.N630N|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron	p.N630N			Q8ND04	SMG8_HUMAN			3	2154	+			630					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.1890T>C	CCDS11615.1																																																																																				0.378	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		9	79	0	0	0	1	0	9	79				
TCHHL1	126637	broad.mit.edu	37	1	152058011	152058011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152058011G>A	ENST00000368806.1	-	3	2211	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	716							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTATTCTGGGCCTCTGTTGC	0.443																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2146-2148)gCc>gTc		trichohyalin-like 1							170.0	175.0	173.0					1																	152058011		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058011G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2147C>T	1.37:g.152058011G>A	ENSP00000357796:p.Ala716Val						p.A716V	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2211	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		716					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2147C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	11.26	1.586489	0.28268	.	.	ENSG00000182898	ENST00000368806	T	0.27890	1.64	4.23	-0.747	0.11091	.	1.165010	0.06775	N	0.784154	T	0.06462	0.0166	L	0.34521	1.04	0.09310	N	1	B	0.26809	0.16	B	0.23275	0.045	T	0.36187	-0.9758	10	0.23302	T	0.38	9.2347	3.7543	0.08579	0.4339:0.2128:0.3533:0.0	.	716	Q5QJ38	TCHL1_HUMAN	V	716	ENSP00000357796:A716V	ENSP00000357796:A716V	A	-	2	0	TCHHL1	150324635	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.125000	0.10579	-0.011000	0.14247	-0.136000	0.14681	GCC		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		77	88	0	0	0	1	0	77	88				
DGCR14	8220	broad.mit.edu	37	22	19122584	19122584	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19122584C>T	ENST00000252137.6	-	9	1183	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	380					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGCCAGATTCTCCGTCACTC	0.682																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(1138-1140)gaG>gaA		DiGeorge syndrome critical region gene 14							117.0	96.0	103.0					22																	19122584		2203	4300	6503	SO:0001819	synonymous_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19122584C>T	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1140G>A	22.37:g.19122584C>T							p.E380E	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			9	1183	-	Colorectal(54;0.0993)		380					Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	c.1140G>A	CCDS13756.1																																																																																				0.682	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			7	70	0	0	0	1	0	7	70				
AHNAK	79026	broad.mit.edu	37	11	62287036	62287036	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62287036A>G	ENST00000378024.4	-	5	15127	c.14853T>C	c.(14851-14853)gcT>gcC	p.A4951A	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4951					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTAAGCTTGGAGCTTCAACTT	0.438																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14851-14853)gcT>gcC		AHNAK nucleoprotein							98.0	91.0	94.0					11																	62287036		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287036A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14853T>C	11.37:g.62287036A>G						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A4951A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15127	-		Melanoma(852;0.155)	4951					A1A586	Silent	SNP	ENST00000378024.4	37	c.14853T>C	CCDS31584.1																																																																																				0.438	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	93	0	0	0	1	0	46	93				
PVRL4	81607	broad.mit.edu	37	1	161044518	161044518	+	Missense_Mutation	SNP	C	C	A	rs373409475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161044518C>A	ENST00000368012.3	-	5	1185	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	PVRL4_ENST00000453926.2_Missense_Mutation_p.V29L|PVRL4_ENST00000486694.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	295	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCATCCACTCGTACCCCA	0.602																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(883-885)Gtg>Ttg		poliovirus receptor-related 4							75.0	72.0	73.0					1																	161044518		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044518C>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.883G>T	1.37:g.161044518C>A	ENSP00000356991:p.Val295Leu					PVRL4_ENST00000453926.2_Missense_Mutation_p.V29L	p.V295L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		5	1185	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		295			Ig-like C2-type 2.		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.883G>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381734	0.24944	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.74421	-0.84;1.9	4.84	4.84	0.62591	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.947292	0.08793	N	0.892879	T	0.48960	0.1529	L	0.41236	1.265	0.09310	N	1	B;B	0.15141	0.011;0.012	B;B	0.22152	0.038;0.021	T	0.34279	-0.9835	10	0.11794	T	0.64	.	13.3161	0.60407	0.0:1.0:0.0:0.0	.	29;295	B4DQW3;Q96NY8	.;PVRL4_HUMAN	L	295;29	ENSP00000356991:V295L;ENSP00000406015:V29L	ENSP00000356991:V295L	V	-	1	0	PVRL4	159311142	0.048000	0.20356	0.006000	0.13384	0.293000	0.27360	4.340000	0.59328	2.507000	0.84556	0.561000	0.74099	GTG		0.602	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		17	11	1	0	0.146539	1	0.149173	17	11				
FLCN	201163	broad.mit.edu	37	17	17120461	17120461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17120461C>T	ENST00000285071.4	-	10	1552	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.A74T	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	366					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAGAACGTGCCAGGCCAGCA	0.512									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1096-1098)tgG>tgA		folliculin							94.0	84.0	87.0					17																	17120461		2203	4300	6503	SO:0001587	stop_gained	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17120461C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1098G>A	17.37:g.17120461C>T	ENSP00000285071:p.Trp366*					RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.A74T	p.W366*	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			10	1552	-			366					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Nonsense_Mutation	SNP	ENST00000285071.4	37	c.1098G>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	42	9.441764	0.99172	.	.	ENSG00000154803	ENST00000285071	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-21.7304	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	X	366	.	ENSP00000285071:W366X	W	-	3	0	FLCN	17061186	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.154000	0.77437	2.871000	0.98454	0.655000	0.94253	TGG		0.512	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		3	32	0	0	0	1	0	3	32				
HSP90AA1	3320	broad.mit.edu	37	14	102552103	102552103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552103G>A	ENST00000216281.8	-	3	726	c.521C>T	c.(520-522)aCa>aTa	p.T174I	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T296I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	174					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ACCTGTGTCTGTCCTCACTGT	0.522																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(886-888)aCa>aTa		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						74.0	74.0	74.0					14																	102552103		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552103G>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.521C>T	14.37:g.102552103G>A	ENSP00000216281:p.Thr174Ile					HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T174I	p.T296I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			4	1168	-			174					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.887C>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403912	0.25291	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.76448	-1.02;-1.02	3.99	3.07	0.35406	ATPase-like, ATP-binding domain (4);	0.366932	0.24426	U	0.038625	T	0.75004	0.3791	M	0.87269	2.87	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.73116	-0.4084	10	0.38643	T	0.18	.	4.1603	0.10280	0.3851:0.0:0.6149:0.0	.	296;174	P07900-2;P07900	.;HS90A_HUMAN	I	174;296	ENSP00000216281:T174I;ENSP00000335153:T296I	ENSP00000216281:T174I	T	-	2	0	HSP90AA1	101621856	0.689000	0.27690	0.897000	0.35233	0.314000	0.28054	2.253000	0.43205	1.950000	0.56595	0.650000	0.86243	ACA		0.522	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		5	66	0	0	0	1	0	5	66				
KRT12	3859	broad.mit.edu	37	17	39019766	39019766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39019766C>T	ENST00000251643.4	-	5	1089	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	356	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	AGCTCGATCTCCAGGTTCTGA	0.547																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(1066-1068)Gag>Aag		keratin 12							79.0	66.0	71.0					17																	39019766		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019766C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1066G>A	17.37:g.39019766C>T	ENSP00000251643:p.Glu356Lys						p.E356K	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			5	1089	-		Breast(137;0.000301)	356			Coil 2.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.1066G>A	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135108	0.94517	.	.	ENSG00000187242	ENST00000251643	D	0.89343	-2.5	5.44	5.44	0.79542	Filament (1);	0.123452	0.36555	N	0.002527	D	0.94892	0.8349	M	0.89601	3.045	0.51482	D	0.999927	D	0.56968	0.978	P	0.58013	0.831	D	0.95633	0.8691	10	0.87932	D	0	.	19.2622	0.93973	0.0:1.0:0.0:0.0	.	356	Q99456	K1C12_HUMAN	K	356	ENSP00000251643:E356K	ENSP00000251643:E356K	E	-	1	0	KRT12	36273292	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.030000	0.70903	2.542000	0.85734	0.491000	0.48974	GAG		0.547	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		21	26	0	0	0	1	0	21	26				
ZCCHC11	23318	broad.mit.edu	37	1	52903911	52903911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52903911C>T	ENST00000371544.3	-	25	4181	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D1307N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1307					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTAGGGCAGTCTTTCATGTAG	0.368																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3919-3921)Gac>Aac		zinc finger, CCHC domain containing 11							182.0	168.0	173.0					1																	52903911		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52903911C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3919G>A	1.37:g.52903911C>T	ENSP00000360599:p.Asp1307Asn					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D1307N	p.D1307N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			25	4181	-			1307					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3919G>A	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.494783|5.494783	0.96339|0.96339	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722|ENST00000474453	T;T;T|.	0.79033|.	-1.23;-1.23;-1.23|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73628|0.73628	0.3611|0.3611	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.69124|0.69124	-0.5228|-0.5228	10|5	0.46703|.	T|.	0.11|.	.|.	20.088|20.088	0.97803|0.97803	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1307|.	Q5TAX3|.	TUT4_HUMAN|.	N|K	1307;1307;149|156	ENSP00000257177:D1307N;ENSP00000360599:D1307N;ENSP00000435700:D149N|.	ENSP00000257177:D1307N|.	D|R	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52676499|52676499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.487000|7.487000	0.81328|0.81328	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.368	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		59	84	0	0	0	1	0	59	84				
MTFR1	9650	broad.mit.edu	37	8	66605934	66605934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66605934C>T	ENST00000262146.4	+	4	347	c.221C>T	c.(220-222)gCg>gTg	p.A74V	MTFR1_ENST00000458689.2_Missense_Mutation_p.A41V|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	74					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGCAGTGGCGTCTTTTGCT	0.448																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(220-222)gCg>gTg		mitochondrial fission regulator 1							103.0	91.0	95.0					8																	66605934		2203	4300	6503	SO:0001583	missense	9650					mitochondrion|plasma membrane		g.chr8:66605934C>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.221C>T	8.37:g.66605934C>T	ENSP00000262146:p.Ala74Val					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.A41V	p.A74V	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		4	347	+			74					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	c.221C>T	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.052|6.052	0.377888|0.377888	0.11466|0.11466	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000262146;ENST00000458689|ENST00000518800	T;T|.	0.49432|.	0.78;0.78|.	5.83|5.83	0.802|0.802	0.18686|0.18686	.|.	0.370094|.	0.33057|.	N|.	0.005328|.	T|T	0.29158|0.29158	0.0725|0.0725	N|N	0.25286|0.25286	0.73|0.73	0.29035|0.29035	N|N	0.885456|0.885456	B;B;B|.	0.32829|.	0.115;0.386;0.014|.	B;B;B|.	0.28916|.	0.064;0.096;0.011|.	T|T	0.29243|0.29243	-1.0018|-1.0018	9|5	.|.	.|.	.|.	-8.7147|-8.7147	8.6786|8.6786	0.34194|0.34194	0.0:0.6051:0.0:0.3949|0.0:0.6051:0.0:0.3949	.|.	74;41;74|.	B4E3G8;E7EP84;Q15390|.	.;.;MTFR1_HUMAN|.	V|C	74;41|32	ENSP00000262146:A74V;ENSP00000391502:A41V|.	.|.	A|R	+|+	2|1	0|0	MTFR1|MTFR1	66768488|66768488	0.009000|0.009000	0.17119|0.17119	0.035000|0.035000	0.18076|0.18076	0.386000|0.386000	0.30323|0.30323	-0.154000|-0.154000	0.10130|0.10130	-0.140000|-0.140000	0.11394|0.11394	0.585000|0.585000	0.79938|0.79938	GCG|CGT		0.448	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		6	20	0	0	0	1	0	6	20				
REXO1	57455	broad.mit.edu	37	19	1827631	1827631	+	Missense_Mutation	SNP	G	G	A	rs188172131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1827631G>A	ENST00000170168.4	-	2	1251	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	386						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGGGGGCAGGTGGGGC	0.672													.|||	1	0.000199681	0.0008	0.0	5008	,	,		12160	0.0		0.0	False		,,,				2504	0.0					ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1156-1158)gCc>gTc		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							13.0	17.0	16.0					19																	1827631		2137	4230	6367	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827631G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1157C>T	19.37:g.1827631G>A	ENSP00000170168:p.Ala386Val						p.A386V	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1251	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	386					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1157C>T	CCDS32866.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.506	-0.550775	0.03996	.	.	ENSG00000079313	ENST00000170168	T	0.11712	2.75	3.82	-2.31	0.06765	.	0.994106	0.08164	N	0.988066	T	0.05731	0.0150	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43426	-0.9392	10	0.27785	T	0.31	-4.0249	5.642	0.17569	0.3558:0.2796:0.3646:0.0	.	386	Q8N1G1	REXO1_HUMAN	V	386	ENSP00000170168:A386V	ENSP00000170168:A386V	A	-	2	0	REXO1	1778631	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.038000	0.12144	-0.178000	0.10672	0.555000	0.69702	GCC		0.672	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		8	20	0	0	0	1	0	8	20				
GOT1	2805	broad.mit.edu	37	10	101180553	101180553	+	Missense_Mutation	SNP	G	G	A	rs377247241		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101180553G>A	ENST00000370508.5	-	2	155	c.128C>T	c.(127-129)aCg>aTg	p.T43M	GOT1_ENST00000543866.1_Missense_Mutation_p.T22M|GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	43					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GCAGTCATCCGTGCGATATGC	0.468																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(127-129)aCg>aTg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	G	MET/THR	0,4406		0,0,2203	150.0	144.0	146.0		128	5.8	1.0	10		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	GOT1	NM_002079.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	43/414	101180553	1,13005	2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101180553G>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.128C>T	10.37:g.101180553G>A	ENSP00000359539:p.Thr43Met					GOT1_ENST00000543866.1_Missense_Mutation_p.T22M|GOT1_ENST00000471741.1_5'UTR	p.T43M	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	2	155	-		Ovarian(717;0.028)|Colorectal(252;0.234)	43					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.128C>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431226	0.62844	0.0	1.16E-4	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.24350	1.86;1.86	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.65907	-0.6054	10	0.87932	D	0	-15.6418	19.133	0.93415	0.0:0.0:1.0:0.0	.	43;43	Q2TU84;P17174	.;AATC_HUMAN	M	43;43;22	ENSP00000359539:T43M;ENSP00000445578:T22M	ENSP00000359539:T43M	T	-	2	0	GOT1	101170543	1.000000	0.71417	0.975000	0.42487	0.094000	0.18550	9.249000	0.95470	2.885000	0.99019	0.655000	0.94253	ACG		0.468	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		39	66	0	0	0	1	0	39	66				
ZBTB7C	201501	broad.mit.edu	37	18	45566687	45566687	+	Silent	SNP	G	G	A	rs201022618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566687G>A	ENST00000588982.1	-	3	1293	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZBTB7C_ENST00000332053.2_Silent_p.F264F|ZBTB7C_ENST00000586438.1_Silent_p.F264F|ZBTB7C_ENST00000535628.2_Silent_p.F264F|ZBTB7C_ENST00000590800.1_Silent_p.F264F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	264							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAAAGGCACCGAAGTCCCCTG	0.592													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17032	0.0		0.0	False		,,,				2504	0.0					ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(790-792)ttC>ttT		zinc finger and BTB domain containing 7C																																				SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566687G>A	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.792C>T	18.37:g.45566687G>A						ZBTB7C_ENST00000586438.1_Silent_p.F264F|ZBTB7C_ENST00000535628.2_Silent_p.F264F|ZBTB7C_ENST00000590800.1_Silent_p.F264F|ZBTB7C_ENST00000332053.2_Silent_p.F264F	p.F264F			A1YPR0	ZBT7C_HUMAN			3	1293	-			264					O73453	Silent	SNP	ENST00000588982.1	37	c.792C>T	CCDS32830.1																																																																																				0.592	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		11	31	0	0	0	1	0	11	31				
PHLDB1	23187	broad.mit.edu	37	11	118529667	118529667	+	IGR	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118529667A>G	ENST00000361417.2	+	0	5753				TREH_ENST00000529101.1_Missense_Mutation_p.W498R|TREH_ENST00000530256.1_Missense_Mutation_p.W375R|TREH_ENST00000264029.4_Missense_Mutation_p.W498R|TREH_ENST00000397925.1_Missense_Mutation_p.W467R|TREH_ENST00000525958.1_Missense_Mutation_p.W467R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTTCGGATCCAATTCTGAGCC	0.592											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1492-1494)Tgg>Cgg		trehalase (brush-border membrane glycoprotein)							109.0	116.0	114.0					11																	118529667		2036	4175	6211	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118529667A>G		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118529667A>G			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_ENST00000525958.1_Missense_Mutation_p.W467R|TREH_ENST00000397925.1_Missense_Mutation_p.W467R|TREH_ENST00000530256.1_Missense_Mutation_p.W375R|TREH_ENST00000264029.4_Missense_Mutation_p.W498R	p.W498R			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	13	1537	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	498					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1492T>C	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174415	0.78452	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.3	4.16	0.48862	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	.	.	.	0.80722	D	1	P;D;D	0.57257	0.915;0.979;0.979	P;P;P	0.62885	0.603;0.908;0.908	T	0.58098	-0.7696	9	0.72032	D	0.01	-8.2516	10.7225	0.46048	0.857:0.0:0.0:0.143	.	467;375;498	E9PNA2;E9PPK1;O43280	.;.;TREA_HUMAN	R	498;375;498;375;467;467	ENSP00000435095:W498R;ENSP00000432640:W375R;ENSP00000264029:W498R;ENSP00000432853:W467R;ENSP00000381020:W467R	ENSP00000264029:W498R	W	-	1	0	TREH	118034877	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.716000	0.84723	1.001000	0.39076	0.533000	0.62120	TGG		0.592	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		67	102	0	0	0	1	0	67	102				
ZNF721	170960	broad.mit.edu	37	4	437871	437871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:437871C>A	ENST00000338977.5	-	2	397	c.349G>T	c.(349-351)Gga>Tga	p.G117*	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Nonsense_Mutation_p.G129*			Q8TF20	ZN721_HUMAN	zinc finger protein 721	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCATGAATTCCTTTATGTTGA	0.383																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(349-351)Gga>Tga		zinc finger protein 721							123.0	134.0	131.0					4																	437871		2154	4282	6436	SO:0001587	stop_gained	170960							g.chr4:437871C>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.349G>T	4.37:g.437871C>A	ENSP00000340524:p.Gly117*					ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Nonsense_Mutation_p.G129*|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron	p.G117*							2	397	-								Q69YG7	Nonsense_Mutation	SNP	ENST00000338977.5	37	c.349G>T		.	.	.	.	.	.	.	.	.	.	C	5.175	0.217840	0.09810	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	.	.	.	0.723	-1.02	0.10135	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5382	0.12043	0.0:0.5729:0.0:0.4271	.	.	.	.	X	117;129	.	ENSP00000340524:G117X	G	-	1	0	ZNF721	427871	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-4.142000	0.00286	-0.388000	0.07797	0.205000	0.17691	GGA		0.383	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		4	106	1	0	0.014758	1	0.0152625	4	106				
AGFG1	3267	broad.mit.edu	37	2	228418504	228418504	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228418504C>A	ENST00000310078.8	+	12	1882	c.1622C>A	c.(1621-1623)cCt>cAt	p.P541H	AGFG1_ENST00000409171.1_Missense_Mutation_p.P539H|AGFG1_ENST00000373671.3_Missense_Mutation_p.P501H|AGFG1_ENST00000409979.2_Missense_Mutation_p.P563H|AGFG1_ENST00000409315.1_Missense_Mutation_p.P520H	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	541					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTAGTAATCCTTTTATGGTA	0.313																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1621-1623)cCt>cAt		ArfGAP with FG repeats 1							78.0	81.0	80.0					2																	228418504		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228418504C>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1622C>A	2.37:g.228418504C>A	ENSP00000312059:p.Pro541His					AGFG1_ENST00000373671.3_Missense_Mutation_p.P501H|AGFG1_ENST00000409979.2_Missense_Mutation_p.P563H|AGFG1_ENST00000409171.1_Missense_Mutation_p.P539H|AGFG1_ENST00000409315.1_Missense_Mutation_p.P520H	p.P541H	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			12	1882	+			541					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1622C>A	CCDS2467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.996884|3.996884	0.74818|0.74818	.|.	.|.	ENSG00000173744|ENSG00000173744	ENST00000458212|ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	.|T;T;T;T;T	.|0.77229	.|0.77;-0.93;-1.08;-0.67;0.65	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87517|0.87517	0.6197|0.6197	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.998;0.998	D|D	0.87620|0.87620	0.2509|0.2509	5|10	.|0.72032	.|D	.|0.01	.|.	19.9466|19.9466	0.97184|0.97184	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|501;539;563;541	.|P52594-2;P52594-3;E9PHX7;P52594	.|.;.;.;AGFG1_HUMAN	I|H	111|563;548;541;520;501;539	.|ENSP00000387282:P563H;ENSP00000312059:P541H;ENSP00000387154:P520H;ENSP00000362775:P501H;ENSP00000387218:P539H	.|ENSP00000312059:P541H	L|P	+|+	1|2	0|0	AGFG1|AGFG1	228126748|228126748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	5.211000|5.211000	0.65219|0.65219	2.721000|2.721000	0.93114|0.93114	0.591000|0.591000	0.81541|0.81541	CTT|CCT		0.313	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		4	58	1	0	0.00909568	1	0.00947522	4	58				
DMTN	2039	broad.mit.edu	37	8	21938863	21938863	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21938863G>A	ENST00000523266.1	+	16	1569	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	DMTN_ENST00000443491.2_Silent_p.R322R|DMTN_ENST00000523782.2_Silent_p.R322R|DMTN_ENST00000519907.1_Silent_p.R347R|DMTN_ENST00000358242.3_Silent_p.R369R|DMTN_ENST00000432128.1_Silent_p.R369R|DMTN_ENST00000265800.5_Silent_p.R369R|DMTN_ENST00000415253.1_Silent_p.R347R|DMTN_ENST00000381470.3_Silent_p.R347R|DMTN_ENST00000517600.1_Silent_p.R329R	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	369	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CCATGTAGAGGCATCTGTCTG	0.587																																						ENST00000358242.3																			0											c.(1105-1107)agG>agA		dematin actin binding protein							94.0	95.0	95.0					8																	21938863		2203	4300	6503	SO:0001819	synonymous_variant	2039							g.chr8:21938863G>A	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.1107G>A	8.37:g.21938863G>A						DMTN_ENST00000517600.1_Silent_p.R329R|DMTN_ENST00000265800.5_Silent_p.R369R|DMTN_ENST00000523782.2_Silent_p.R322R|DMTN_ENST00000523266.1_Silent_p.R369R|DMTN_ENST00000415253.1_Silent_p.R347R|DMTN_ENST00000443491.2_Silent_p.R322R|DMTN_ENST00000381470.3_Silent_p.R347R|DMTN_ENST00000432128.1_Silent_p.R369R|DMTN_ENST00000519907.1_Silent_p.R347R	p.R369R							16	1600	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	c.1107G>A	CCDS6020.1																																																																																				0.587	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		13	27	0	0	0	1	0	13	27				
ST5	6764	broad.mit.edu	37	11	8718054	8718054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8718054C>T	ENST00000534127.1	-	21	3597	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ST5_ENST00000357665.1_Missense_Mutation_p.R1071H|ST5_ENST00000526757.1_Missense_Mutation_p.R651H|ST5_ENST00000313726.6_Missense_Mutation_p.R1071H|ST5_ENST00000530438.1_Missense_Mutation_p.R651H|ST5_ENST00000534278.1_Missense_Mutation_p.R262H|ST5_ENST00000530991.1_Missense_Mutation_p.R543H|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.R584H|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1071	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCAAGAAAGCGGCGGATGCT	0.512																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(3211-3213)cGc>cAc		suppression of tumorigenicity 5							174.0	188.0	183.0					11																	8718054		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8718054C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3212G>A	11.37:g.8718054C>T	ENSP00000433528:p.Arg1071His					ST5_ENST00000530991.1_Missense_Mutation_p.R543H|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.R584H|ST5_ENST00000526757.1_Missense_Mutation_p.R651H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.R262H|ST5_ENST00000530438.1_Missense_Mutation_p.R651H|ST5_ENST00000357665.1_Missense_Mutation_p.R1071H|ST5_ENST00000313726.6_Missense_Mutation_p.R1071H	p.R1071H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	21	3597	-			1071			dDENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.3212G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036680	0.54896	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.87	4.95	0.65309	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.54323	1.7	0.80722	D	1	P;B;B	0.34997	0.479;0.11;0.374	B;B;B	0.37989	0.262;0.052;0.183	T	0.11941	-1.0567	10	0.16420	T	0.52	-6.8275	15.4048	0.74868	0.0:0.9324:0.0:0.0676	.	584;651;1071	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	H	651;1071;1071;543;1071;584;262;651	ENSP00000435097:R651H;ENSP00000433528:R1071H;ENSP00000319678:R1071H;ENSP00000432887:R543H;ENSP00000350294:R1071H;ENSP00000436808:R584H;ENSP00000433349:R262H;ENSP00000436802:R651H	ENSP00000319678:R1071H	R	-	2	0	ST5	8674630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.644000	0.61397	2.791000	0.96007	0.655000	0.94253	CGC		0.512	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		83	176	0	0	0	1	0	83	176				
CCDC116	164592	broad.mit.edu	37	22	21988347	21988347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988347C>T	ENST00000292779.3	+	3	270	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	CCDC116_ENST00000607942.1_Missense_Mutation_p.R37W	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	37										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCAGAAATGCGGCCAGCCTG	0.632																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(109-111)Cgg>Tgg		coiled-coil domain containing 116							64.0	64.0	64.0					22																	21988347		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21988347C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.109C>T	22.37:g.21988347C>T	ENSP00000292779:p.Arg37Trp						p.R37W	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			3	270	+	Colorectal(54;0.105)		37					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.109C>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	7.961	0.746933	0.15710	.	.	ENSG00000161180	ENST00000425975;ENST00000292779	T;T	0.23950	1.88;1.88	4.55	-3.26	0.05064	.	1.546980	0.03774	N	0.260234	T	0.15176	0.0366	N	0.19112	0.55	0.09310	N	1	D;D	0.54772	0.968;0.968	B;B	0.43783	0.431;0.406	T	0.16867	-1.0388	10	0.66056	D	0.02	-27.4928	0.934	0.01340	0.4113:0.1574:0.2732:0.1582	.	37;37	B7Z7H5;Q8IYX3-2	.;.	W	103;37	ENSP00000401637:R103W;ENSP00000292779:R37W	ENSP00000292779:R37W	R	+	1	2	CCDC116	20318347	0.004000	0.15560	0.002000	0.10522	0.016000	0.09150	-0.264000	0.08658	-0.183000	0.10585	-0.204000	0.12730	CGG		0.632	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		18	35	0	0	0	1	0	18	35				
BLOC1S1	2647	broad.mit.edu	37	12	56113373	56113373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56113373C>T	ENST00000548925.1	+	4	457	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	RDH5_ENST00000257895.5_5'Flank|BLOC1S1_ENST00000547076.1_Silent_p.L70L|RDH5_ENST00000547072.1_5'Flank|RDH5_ENST00000548082.1_5'Flank|BLOC1S1_ENST00000549147.1_3'UTR|BLOC1S1_ENST00000257899.2_Silent_p.L120L|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548556.1_Silent_p.L70L|RP11-644F5.10_ENST00000549424.1_Intron			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	148					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAAAGGGCAGCTGCAGTCTGC	0.582																																					Colon(112;1254 2715 13015)	ENST00000547076.1																			0				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						c.(208-210)Ctg>Ttg		biogenesis of lysosomal organelles complex-1, subunit 1							63.0	56.0	59.0					12																	56113373		2203	4300	6503	SO:0001819	synonymous_variant	2647				cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding	g.chr12:56113373C>T	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.442C>T	12.37:g.56113373C>T						BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000549424.1_Intron|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548925.1_Silent_p.L148L|BLOC1S1_ENST00000548556.1_Silent_p.L70L|BLOC1S1_ENST00000257899.2_Silent_p.L120L	p.L70L			P78537	BL1S1_HUMAN			4	723	+			148					A1L4Q9|Q6NZ45	Silent	SNP	ENST00000548925.1	37	c.208C>T	CCDS8889.2																																																																																				0.582	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487		4	39	0	0	0	1	0	4	39				
TBK1	29110	broad.mit.edu	37	12	64853996	64853996	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64853996G>T	ENST00000331710.5	+	3	454	c.115G>T	c.(115-117)Gta>Tta	p.V39L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGCTATCAAAGTATTTAATAA	0.264																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(115-117)Gta>Tta		TANK-binding kinase 1							33.0	37.0	35.0					12																	64853996		2194	4278	6472	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64853996G>T	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.115G>T	12.37:g.64853996G>T	ENSP00000329967:p.Val39Leu						p.V39L	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	3	454	+			39			Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.115G>T	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654993	0.88056	.	.	ENSG00000183735	ENST00000331710;ENST00000538890;ENST00000540417	T;T;T	0.41065	1.01;3.22;3.22	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.77820	2.39	0.58432	D	0.999999	D	0.63046	0.992	D	0.77004	0.989	T	0.67333	-0.5697	9	.	.	.	-12.7086	19.3221	0.94246	0.0:0.0:1.0:0.0	.	39	Q9UHD2	TBK1_HUMAN	L	39	ENSP00000329967:V39L;ENSP00000445834:V39L;ENSP00000445628:V39L	.	V	+	1	0	TBK1	63140263	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.870000	0.87175	2.647000	0.89833	0.467000	0.42956	GTA		0.264	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		4	26	1	0	0.184627	1	0.186383	4	26				
ZDHHC19	131540	broad.mit.edu	37	3	195925736	195925736	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195925736G>T	ENST00000296326.3	-	6	776	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	233						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TATCCCTGAAGGTGTCTGCAC	0.587																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(697-699)Ctt>Att		zinc finger, DHHC-type containing 19							94.0	101.0	99.0					3																	195925736		1977	4147	6124	SO:0001583	missense	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195925736G>T	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.697C>A	3.37:g.195925736G>T	ENSP00000296326:p.Leu233Ile						p.L233I	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	6	776	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		233					A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	c.697C>A	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	G	6.180	0.401378	0.11696	.	.	ENSG00000163958	ENST00000296326	T	0.32272	1.46	4.27	3.35	0.38373	.	0.601939	0.12803	N	0.437815	T	0.27313	0.0670	L	0.43152	1.355	0.09310	N	1	P	0.41420	0.749	B	0.41691	0.364	T	0.06972	-1.0797	10	0.31617	T	0.26	-5.4601	9.0027	0.36092	0.0:0.0:0.7796:0.2204	.	233	Q8WVZ1	ZDH19_HUMAN	I	233	ENSP00000296326:L233I	ENSP00000296326:L233I	L	-	1	0	ZDHHC19	197410133	0.184000	0.23200	0.014000	0.15608	0.044000	0.14063	0.732000	0.26072	0.952000	0.37798	0.467000	0.42956	CTT		0.587	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		25	31	1	0	4.7796e-09	1	5.77107e-09	25	31				
MED13L	23389	broad.mit.edu	37	12	116413074	116413074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413074T>C	ENST00000281928.3	-	25	5839	c.5633A>G	c.(5632-5634)aAg>aGg	p.K1878R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1878						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCCCATAACTTCTGTAGTCC	0.463																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5632-5634)aAg>aGg		mediator complex subunit 13-like							94.0	87.0	89.0					12																	116413074		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413074T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5633A>G	12.37:g.116413074T>C	ENSP00000281928:p.Lys1878Arg						p.K1878R	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	25	5839	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1878					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5633A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.033901	0.93575	.	.	ENSG00000123066	ENST00000281928	D	0.84070	-1.8	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.90423	0.4418	10	0.87932	D	0	.	16.2237	0.82280	0.0:0.0:0.0:1.0	.	1878	Q71F56	MD13L_HUMAN	R	1878	ENSP00000281928:K1878R	ENSP00000281928:K1878R	K	-	2	0	MED13L	114897457	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.648000	0.83479	2.289000	0.77006	0.482000	0.46254	AAG		0.463	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			8	52	0	0	0	1	0	8	52				
GSDMA	284110	broad.mit.edu	37	17	38133109	38133109	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133109A>G	ENST00000301659.4	+	12	1254	c.1136A>G	c.(1135-1137)gAg>gGg	p.E379G		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	379					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTGGATAAAGAGGGTGTTTTC	0.547																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1135-1137)gAg>gGg		gasdermin A							151.0	153.0	152.0					17																	38133109		1931	4138	6069	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133109A>G	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1136A>G	17.37:g.38133109A>G	ENSP00000301659:p.Glu379Gly						p.E379G	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1254	+			379					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.1136A>G	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	A	9.501	1.103227	0.20632	.	.	ENSG00000167914	ENST00000301659	T	0.24350	1.86	5.61	4.54	0.55810	.	0.213740	0.33092	N	0.005293	T	0.19644	0.0472	L	0.46885	1.475	0.32229	N	0.57418	B	0.15930	0.015	B	0.17433	0.018	T	0.11842	-1.0571	10	0.23891	T	0.37	-31.0883	6.2836	0.21021	0.8411:0.0:0.1589:0.0	.	379	Q96QA5	GSDMA_HUMAN	G	379	ENSP00000301659:E379G	ENSP00000301659:E379G	E	+	2	0	GSDMA	35386635	0.873000	0.30073	0.995000	0.50966	0.155000	0.21991	1.376000	0.34306	2.136000	0.66102	0.459000	0.35465	GAG		0.547	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		5	103	0	0	0	1	0	5	103				
ASPM	259266	broad.mit.edu	37	1	197094253	197094253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197094253C>T	ENST00000367409.4	-	11	3261	c.3005G>A	c.(3004-3006)cGt>cAt	p.R1002H	ASPM_ENST00000294732.7_Missense_Mutation_p.R1002H|ASPM_ENST00000367408.1_Missense_Mutation_p.R252H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1002	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTGAAGACGACTTATTGC	0.378																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3004-3006)cGt>cAt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							131.0	125.0	127.0					1																	197094253		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197094253C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3005G>A	1.37:g.197094253C>T	ENSP00000356379:p.Arg1002His					ASPM_ENST00000367408.1_Missense_Mutation_p.R252H|ASPM_ENST00000294732.7_Missense_Mutation_p.R1002H	p.R1002H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			11	3261	-			1002			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3005G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970257	0.92855	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.63913	-0.07;-0.07;-0.07	5.59	4.68	0.58851	Calponin homology domain (4);	0.073087	0.64402	N	0.000019	D	0.83175	0.5197	M	0.92738	3.34	0.80722	D	1	P;D	0.89917	0.647;1.0	B;D	0.85130	0.093;0.997	D	0.87222	0.2254	10	0.62326	D	0.03	.	14.5317	0.67931	0.0:0.9295:0.0:0.0704	.	1002;1002	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	1002;1002;252	ENSP00000356379:R1002H;ENSP00000294732:R1002H;ENSP00000356378:R252H	ENSP00000294732:R1002H	R	-	2	0	ASPM	195360876	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.605000	0.67634	1.496000	0.48567	0.563000	0.77884	CGT		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		14	73	0	0	0	1	0	14	73				
LILRB1	10859	broad.mit.edu	37	19	55146618	55146618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55146618G>A	ENST00000396331.1	+	12	1904	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	LILRB1_ENST00000396317.1_Missense_Mutation_p.G500D|LILRB1_ENST00000396327.3_Missense_Mutation_p.G517D|LILRB1_ENST00000396315.1_Missense_Mutation_p.G517D|LILRB1_ENST00000324602.7_Missense_Mutation_p.G517D|LILRB1_ENST00000396332.4_Missense_Mutation_p.G516D|LILRB1_ENST00000434867.2_Missense_Mutation_p.G516D|LILRB1_ENST00000427581.2_Missense_Mutation_p.G566D|LILRB1_ENST00000418536.2_Missense_Mutation_p.G500D|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.G516D|LILRB1_ENST00000448689.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	516					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGACAGAGGCCTGCAGTGG	0.617										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1546-1548)gGc>gAc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							16.0	20.0	19.0					19																	55146618		2052	4155	6207	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146618G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1547G>A	19.37:g.55146618G>A	ENSP00000379622:p.Gly516Asp	HNSCC(37;0.09)				LILRB1_ENST00000396315.1_Missense_Mutation_p.G517D|LILRB1_ENST00000324602.7_Missense_Mutation_p.G517D|LILRB1_ENST00000396321.2_Missense_Mutation_p.G516D|LILRB1_ENST00000418536.2_Missense_Mutation_p.G500D|LILRB1_ENST00000434867.2_Missense_Mutation_p.G516D|LILRB1_ENST00000396317.1_Missense_Mutation_p.G500D|LILRB1_ENST00000396332.4_Missense_Mutation_p.G516D|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.G517D|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.G566D	p.G516D	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	12	1904	+			516					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1547G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873576	0.17322	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00490	7.1;7.08;7.1;7.09;7.09;7.1;7.1;7.03;7.08;7.09	1.35	0.247	0.15521	.	.	.	.	.	T	0.00815	0.0027	M	0.64170	1.965	0.09310	N	1	P;B;D;D;D;D	0.69078	0.57;0.105;0.997;0.985;0.997;0.995	B;B;D;P;D;D	0.66084	0.196;0.037;0.928;0.689;0.923;0.941	T	0.52653	-0.8547	9	0.56958	D	0.05	.	3.4637	0.07543	0.2804:0.0:0.7196:0.0	.	500;516;517;516;517;516	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	D	516;500;516;517;517;516;516;566;500;517	ENSP00000379614:G516D;ENSP00000391514:G500D;ENSP00000379622:G516D;ENSP00000379618:G517D;ENSP00000315997:G517D;ENSP00000405243:G516D;ENSP00000379623:G516D;ENSP00000395004:G566D;ENSP00000379610:G500D;ENSP00000379608:G517D	ENSP00000315997:G517D	G	+	2	0	LILRB1	59838430	0.002000	0.14202	0.003000	0.11579	0.036000	0.12997	0.361000	0.20267	0.120000	0.18254	0.205000	0.17691	GGC		0.617	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			12	27	0	0	0	1	0	12	27				
RBBP7	5931	broad.mit.edu	37	X	16870701	16870701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16870701G>A	ENST00000380087.2	-	8	1296	c.936C>T	c.(934-936)ttC>ttT	p.F312F	RBBP7_ENST00000404022.1_Silent_p.F303F|RBBP7_ENST00000380084.4_Silent_p.F356F			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	312					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.F312F(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TATGAGATTCGAAGGTATGGA	0.338																																						ENST00000380087.2																			1	Substitution - coding silent(1)	p.F312F(1)	ovary(1)	biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(934-936)ttC>ttT		retinoblastoma binding protein 7							63.0	58.0	60.0					X																	16870701		2203	4300	6503	SO:0001819	synonymous_variant	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16870701G>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.936C>T	X.37:g.16870701G>A						RBBP7_ENST00000380084.4_Silent_p.F356F|RBBP7_ENST00000404022.1_Silent_p.F303F	p.F312F			Q16576	RBBP7_HUMAN			8	1296	-	Hepatocellular(33;0.0997)		312					Q5JP00	Silent	SNP	ENST00000380087.2	37	c.936C>T	CCDS14179.1																																																																																				0.338	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		35	53	0	0	0	1	0	35	53				
TP73-AS1	57212	broad.mit.edu	37	1	3662291	3662291	+	RNA	SNP	G	G	T	rs375339516		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3662291G>T	ENST00000452079.1	-	0	1595				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											CGTACAGCAAGCAGCAGCTGT	0.612																																						ENST00000452079.1																			0																				102.0	102.0	102.0					1																	3662291		2177	4273	6450			0							g.chr1:3662291G>T			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662291G>T						TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA		NR_033711.1						0	1595	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.612	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		7	6	1	0	0.0381472	1	0.0390147	7	6				
PHAX	51808	broad.mit.edu	37	5	125939431	125939431	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939431A>G	ENST00000297540.4	+	2	961	c.266A>G	c.(265-267)aAc>aGc	p.N89S	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	89	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAATGTTTTAACCCTCCTCCC	0.433																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(265-267)aAc>aGc		phosphorylated adaptor for RNA export							110.0	111.0	111.0					5																	125939431		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125939431A>G	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.266A>G	5.37:g.125939431A>G	ENSP00000297540:p.Asn89Ser					PHAX_ENST00000514725.1_3'UTR	p.N89S	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			2	961	+			89			Necessary for interaction with CBP80 (By similarity).		Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.266A>G	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.615596	0.28801	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.22539	1.95	5.74	3.22	0.36961	.	0.348412	0.36268	N	0.002697	T	0.15003	0.0362	L	0.35723	1.085	0.09310	N	0.999997	B	0.06786	0.001	B	0.11329	0.006	T	0.30707	-0.9969	10	0.14252	T	0.57	-34.3908	10.5656	0.45171	0.8664:0.0:0.1336:0.0	.	89	Q9H814	PHAX_HUMAN	S	89	ENSP00000297540:N89S	ENSP00000297540:N89S	N	+	2	0	PHAX	125967330	0.988000	0.35896	0.290000	0.24890	0.978000	0.69477	3.026000	0.49689	0.389000	0.25086	0.533000	0.62120	AAC		0.433	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		8	120	0	0	0	1	0	8	120				
ZNF418	147686	broad.mit.edu	37	19	58438335	58438335	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58438335T>G	ENST00000396147.1	-	4	1505	c.1214A>C	c.(1213-1215)aAa>aCa	p.K405T	ZNF418_ENST00000425570.3_Missense_Mutation_p.K426T|ZNF418_ENST00000599852.1_Missense_Mutation_p.K320T|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.K405T	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTAAAAGATTTCCCACATTC	0.433																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1213-1215)aAa>aCa		zinc finger protein 418							155.0	159.0	158.0					19																	58438335		2200	4300	6500	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438335T>G	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1214A>C	19.37:g.58438335T>G	ENSP00000379451:p.Lys405Thr					ZNF418_ENST00000595830.1_Missense_Mutation_p.K405T|ZNF418_ENST00000599852.1_Missense_Mutation_p.K320T|ZNF418_ENST00000425570.3_Missense_Mutation_p.K426T|ZNF418_ENST00000600989.1_Intron	p.K405T	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1505	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	405					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1214A>C	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.834679	0.91036	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07908	3.15;3.15	2.28	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32882	0.0844	M	0.91920	3.255	0.27986	N	0.935841	D	0.57899	0.981	D	0.74674	0.984	T	0.07693	-1.0759	9	0.87932	D	0	.	9.2606	0.37610	0.0:0.0:0.0:1.0	.	405	Q8TF45	ZN418_HUMAN	T	405;426;371	ENSP00000379451:K405T;ENSP00000407039:K426T	ENSP00000379451:K405T	K	-	2	0	ZNF418	63130147	0.997000	0.39634	0.833000	0.33012	0.939000	0.58152	3.996000	0.57009	1.060000	0.40578	0.248000	0.18094	AAA		0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		51	88	0	0	0	1	0	51	88				
FBXL18	80028	broad.mit.edu	37	7	5540990	5540990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5540990C>T	ENST00000382368.3	-	3	1033	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FBXL18_ENST00000453700.3_Missense_Mutation_p.G304S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	304									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGGGAAGAGCCGTTCAGCCAG	0.592																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(910-912)Ggc>Agc		F-box and leucine-rich repeat protein 18							46.0	52.0	50.0					7																	5540990		2129	4233	6362	SO:0001583	missense	80028							g.chr7:5540990C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.910G>A	7.37:g.5540990C>T	ENSP00000371805:p.Gly304Ser					FBXL18_ENST00000453700.3_Missense_Mutation_p.G304S	p.G304S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1033	-		Ovarian(82;0.0607)	304					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.910G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818719	0.50633	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.46451	0.9;0.87	5.43	5.43	0.79202	.	0.353536	0.32416	N	0.006124	T	0.37785	0.1016	L	0.29908	0.895	0.44366	D	0.997262	P;P	0.52463	0.953;0.953	B;B	0.43916	0.436;0.314	T	0.14117	-1.0484	10	0.40728	T	0.16	.	18.2207	0.89901	0.0:1.0:0.0:0.0	.	304;304	F5H4Z4;Q96ME1-4	.;.	S	304	ENSP00000371805:G304S;ENSP00000444797:G304S	ENSP00000311990:G304S	G	-	1	0	FBXL18	5507516	0.990000	0.36364	1.000000	0.80357	0.986000	0.74619	2.884000	0.48562	2.553000	0.86117	0.650000	0.86243	GGC		0.592	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		14	22	0	0	0	1	0	14	22				
ATRNL1	26033	broad.mit.edu	37	10	117226752	117226752	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117226752C>T	ENST00000355044.3	+	23	3612	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V	ATRNL1_ENST00000423111.2_Silent_p.V213V|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1162					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGTGGTCTGTCGGTTCAACAG	0.294																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3484-3486)gtC>gtT		attractin-like 1							126.0	121.0	122.0					10																	117226752		2202	4295	6497	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117226752C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3486C>T	10.37:g.117226752C>T						ATRNL1_ENST00000423111.2_Silent_p.V213V|ATRNL1_ENST00000303745.7_Intron	p.V1162V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3612	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1162					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3486C>T	CCDS7592.1																																																																																				0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		17	28	0	0	0	1	0	17	28				
BAIAP2	10458	broad.mit.edu	37	17	79077707	79077707	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79077707C>T	ENST00000321300.6	+	9	958	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	BAIAP2_ENST00000321280.7_Splice_Site_p.R289W|BAIAP2_ENST00000416299.2_Splice_Site_p.R152W|BAIAP2_ENST00000575712.1_Splice_Site_p.R289W|BAIAP2_ENST00000575245.1_Splice_Site_p.R322W|BAIAP2_ENST00000392411.3_Splice_Site_p.R211W|BAIAP2_ENST00000435091.3_Splice_Site_p.R289W|BAIAP2_ENST00000428708.2_Splice_Site_p.R289W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	289					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCCCTGCAGCGGATGTCTGC	0.677																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.e9-1		BAI1-associated protein 2							64.0	65.0	65.0					17																	79077707		2203	4300	6503	SO:0001630	splice_region_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79077707C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.865-1C>T	17.37:g.79077707C>T						BAIAP2_ENST00000416299.2_Splice_Site_p.R152_splice|BAIAP2_ENST00000435091.3_Splice_Site_p.R289_splice|BAIAP2_ENST00000321280.7_Splice_Site_p.R289_splice|BAIAP2_ENST00000392411.3_Splice_Site_p.R211_splice|BAIAP2_ENST00000575712.1_Splice_Site_p.R289_splice|BAIAP2_ENST00000428708.2_Splice_Site_p.R289_splice|BAIAP2_ENST00000575245.1_Splice_Site_p.R322_splice	p.R289_splice	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		9	958	+	all_neural(118;0.101)		289					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Splice_Site	SNP	ENST00000321300.6	37	c.864_splice	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916874	0.52546	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.0	4.0	0.46444	.	0.000000	0.64402	D	0.000003	T	0.68467	0.3004	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;0.999;1.0;0.999;1.0	T	0.68511	-0.5389	9	.	.	.	-24.6937	12.8735	0.57978	0.1632:0.8368:0.0:0.0	.	152;211;290;289;289;289;289;289;289	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	W	289;289;289;289;211;152	ENSP00000316338:R289W;ENSP00000401022:R289W;ENSP00000413069:R289W;ENSP00000315685:R289W;ENSP00000376211:R211W;ENSP00000391837:R152W	.	R	+	1	2	BAIAP2	76692302	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	2.562000	0.45914	1.058000	0.40530	0.462000	0.41574	CGG		0.677	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1		Missense_Mutation	23	42	0	0	0	1	0	23	42				
KIAA0226L	80183	broad.mit.edu	37	13	46937274	46937274	+	Missense_Mutation	SNP	C	C	T	rs190839538	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46937274C>T	ENST00000429979.1	-	6	1505	c.901G>A	c.(901-903)Gat>Aat	p.D301N	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D301N|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.D301N|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.D301N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D144N|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D144N|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.D301N|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D166N|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D234N	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	301										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCATCAACATCGCATTTGCAA	0.423													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13273	0.001		0.0	False		,,,				2504	0.0					ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(901-903)Gat>Aat		KIAA0226-like		C	ASN/ASP	0,4406		0,0,2203	164.0	138.0	147.0		901	5.5	0.3	13		147	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA0226L	NM_025113.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	301/663	46937274	1,13005	2203	4300	6503	SO:0001583	missense	80183							g.chr13:46937274C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.901G>A	13.37:g.46937274C>T	ENSP00000396935:p.Asp301Asn					KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D234N|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D144N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D144N|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.D301N|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D166N|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.D301N|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.D301N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D301N	p.D301N	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			6	1505	-			301					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.901G>A	CCDS31970.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	16.62	3.172627	0.57584	0.0	1.16E-4	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T;T	0.60548	0.18;0.36;0.27;0.43;0.36;0.27;0.52	5.54	5.54	0.83059	.	0.074467	0.56097	D	0.000024	T	0.72755	0.3500	M	0.65498	2.005	0.38797	D	0.955109	D;D;D;D;D;D;D	0.76494	0.995;0.999;0.987;0.992;0.992;0.997;0.999	P;D;P;P;P;P;P	0.63703	0.578;0.917;0.46;0.652;0.578;0.855;0.897	T	0.75303	-0.3365	10	0.56958	D	0.05	-8.3172	16.5893	0.84761	0.0:1.0:0.0:0.0	.	144;301;144;301;166;234;301	B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;.;K226L_HUMAN;.;.;.	N	301;301;301;234;301;301;144;144;166	ENSP00000368057:D301N;ENSP00000396935:D301N;ENSP00000368074:D301N;ENSP00000368061:D234N;ENSP00000374558:D301N;ENSP00000368064:D301N;ENSP00000437501:D166N	ENSP00000315633:D144N	D	-	1	0	KIAA0226L	45835275	0.003000	0.15002	0.296000	0.24974	0.002000	0.02628	1.282000	0.33226	2.760000	0.94817	0.655000	0.94253	GAT		0.423	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		7	17	0	0	0	1	0	7	17				
RGL2	5863	broad.mit.edu	37	6	33259951	33259951	+	Silent	SNP	C	C	T	rs200051934		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33259951C>T	ENST00000497454.1	-	18	2757	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	754					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCCCTCACTCGGAGGAGTTC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		20320	0.0		0.001	False		,,,				2504	0.0					ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(2260-2262)ccG>ccA		ral guanine nucleotide dissociation stimulator-like 2							64.0	62.0	63.0					6																	33259951		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33259951C>T		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2262G>A	6.37:g.33259951C>T						RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	p.P754P	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			18	2757	-			754					B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.2262G>A	CCDS4774.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.105	0.574855	0.13623	.	.	ENSG00000237441	ENST00000421215	.	.	.	5.11	-10.2	0.00374	.	.	.	.	.	T	0.38161	0.1030	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.62680	-0.6803	5	0.62326	D	0.03	.	6.9312	0.24442	0.0814:0.0936:0.1628:0.6622	.	.	.	.	Q	617	.	ENSP00000400083:R617Q	R	-	2	0	RGL2	33367929	0.000000	0.05858	0.448000	0.26945	0.940000	0.58332	-3.709000	0.00387	-2.229000	0.00720	-1.732000	0.00693	CGA		0.607	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			33	22	0	0	0	1	0	33	22				
WNT11	7481	broad.mit.edu	37	11	75907592	75907592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75907592G>A	ENST00000322563.3	-	2	378	c.254C>T	c.(253-255)gCc>gTc	p.A85V	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	85					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCGCATGTCGGCAAAGGCCCG	0.627																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(253-255)gCc>gTc		wingless-type MMTV integration site family, member 11							78.0	86.0	83.0					11																	75907592		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907592G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.254C>T	11.37:g.75907592G>A	ENSP00000325526:p.Ala85Val						p.A85V	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			2	378	-			85					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.254C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722359	0.48728	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76186	-1.0	5.06	5.06	0.68205	.	0.406919	0.28146	N	0.016434	T	0.76364	0.3977	M	0.64080	1.96	0.09310	N	1	B	0.32653	0.379	B	0.38378	0.272	T	0.72693	-0.4216	10	0.72032	D	0.01	.	17.4311	0.87539	0.0:0.0:1.0:0.0	.	85	O96014	WNT11_HUMAN	V	85	ENSP00000325526:A85V	ENSP00000325526:A85V	A	-	2	0	WNT11	75585240	0.928000	0.31464	0.066000	0.19879	0.831000	0.47069	4.532000	0.60608	2.334000	0.79466	0.655000	0.94253	GCC		0.627	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		36	98	0	0	0	1	0	36	98				
ZNF770	54989	broad.mit.edu	37	15	35274890	35274890	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35274890A>G	ENST00000356321.4	-	3	1090	c.746T>C	c.(745-747)tTa>tCa	p.L249S		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	249					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCTCTTCTTTAATAAAAGAGC	0.358																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(745-747)tTa>tCa		zinc finger protein 770							41.0	43.0	42.0					15																	35274890		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274890A>G	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.746T>C	15.37:g.35274890A>G	ENSP00000348673:p.Leu249Ser						p.L249S	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1090	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	249					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.746T>C	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	A	4.493	0.091369	0.08632	.	.	ENSG00000198146	ENST00000356321	T	0.09817	2.94	5.17	4.05	0.47172	.	0.760337	0.11224	N	0.586386	T	0.06962	0.0177	L	0.27053	0.805	0.25288	N	0.98938	P	0.38335	0.627	B	0.35114	0.196	T	0.35674	-0.9779	10	0.87932	D	0	-7.3145	1.6603	0.02790	0.5103:0.1458:0.0827:0.2613	.	249	Q6IQ21	ZN770_HUMAN	S	249	ENSP00000348673:L249S	ENSP00000348673:L249S	L	-	2	0	ZNF770	33062182	0.995000	0.38212	1.000000	0.80357	0.228000	0.25075	1.386000	0.34419	0.988000	0.38734	0.533000	0.62120	TTA		0.358	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		6	28	0	0	0	1	0	6	28				
PTPN18	26469	broad.mit.edu	37	2	131116870	131116870	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131116870C>T	ENST00000175756.5	+	3	368	c.267C>T	c.(265-267)ggC>ggT	p.G89G	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	89	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					ACATTAATGGCAACTTCATCC	0.567																																						ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(265-267)ggC>ggT		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							95.0	97.0	96.0					2																	131116870		2203	4300	6503	SO:0001819	synonymous_variant	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116870C>T	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.267C>T	2.37:g.131116870C>T						PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	p.G89G	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			3	368	+	Colorectal(110;0.1)		89			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Silent	SNP	ENST00000175756.5	37	c.267C>T	CCDS2161.1																																																																																				0.567	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			26	34	0	0	0	1	0	26	34				
TSPAN6	7105	broad.mit.edu	37	X	99887565	99887565	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99887565C>A	ENST00000373020.4	-	6	697	c.586G>T	c.(586-588)Ggt>Tgt	p.G196C	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	196					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ATAAAACAACCCTAATGGGAG	0.353																																						ENST00000373020.4																			0				endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						c.e6-1		tetraspanin 6							48.0	44.0	45.0					X																	99887565		2203	4299	6502	SO:0001630	splice_region_variant	7105				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chrX:99887565C>A	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.586-1G>T	X.37:g.99887565C>A						TSPAN6_ENST00000496771.1_5'UTR	p.G196_splice	NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN			6	697	-			196					Q54A42|Q6IAN9	Splice_Site	SNP	ENST00000373020.4	37	c.585_splice	CCDS14470.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721624	0.68959	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	D	0.84589	-1.87	5.18	5.18	0.71444	Tetraspanin, EC2 domain (1);	0.135020	0.64402	D	0.000002	D	0.94765	0.8310	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96304	0.9223	9	.	.	.	.	16.7765	0.85552	0.0:1.0:0.0:0.0	.	196	O43657	TSN6_HUMAN	C	196;178	ENSP00000362111:G196C	.	G	-	1	0	TSPAN6	99774221	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	5.086000	0.64474	2.309000	0.77851	0.529000	0.55759	GGT		0.353	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1		Missense_Mutation	12	14	1	0	4.3838e-07	1	5.12524e-07	12	14				
EXT2	2132	broad.mit.edu	37	11	44255770	44255770	+	Missense_Mutation	SNP	G	G	A	rs145024832	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44255770G>A	ENST00000343631.3	+	12	2041	c.1912G>A	c.(1912-1914)Gtc>Atc	p.V638I	EXT2_ENST00000533608.1_Missense_Mutation_p.V638I|EXT2_ENST00000395673.3_Missense_Mutation_p.V671I|EXT2_ENST00000358681.4_Missense_Mutation_p.V648I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	638					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGGCCAACGTCACGGGAAA	0.433			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				G|||	2	0.000399361	0.0008	0.0	5008	,	,		17751	0.0		0.0	False		,,,				2504	0.001					ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(2011-2013)Gtc>Atc		exostosin glycosyltransferase 2		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	94.0	89.0	91.0		2011,1942,1912	4.7	1.0	11	dbSNP_134	91	0,8598		0,0,4299	no	missense,missense,missense	EXT2	NM_000401.3,NM_001178083.1,NM_207122.1	29,29,29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	671/752,648/729,638/719	44255770	1,13003	2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44255770G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1912G>A	11.37:g.44255770G>A	ENSP00000342656:p.Val638Ile					EXT2_ENST00000343631.3_Missense_Mutation_p.V638I|EXT2_ENST00000533608.1_Missense_Mutation_p.V638I|EXT2_ENST00000358681.4_Missense_Mutation_p.V648I	p.V671I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			12	2067	+			638					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.2011G>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041152	0.35989	2.27E-4	0.0	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.64	4.73	0.59995	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.121633	0.56097	N	0.000038	T	0.71953	0.3401	N	0.12502	0.225	0.48901	D	0.999721	B;B;B;B;B	0.14012	0.009;0.002;0.002;0.002;0.002	B;B;B;B;B	0.15052	0.012;0.007;0.004;0.007;0.007	T	0.65232	-0.6218	10	0.15066	T	0.55	-17.2974	14.2254	0.65855	0.0711:0.0:0.9289:0.0	.	638;648;648;638;651	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	638;648;671;638	ENSP00000431173:V638I;ENSP00000351509:V648I;ENSP00000379032:V671I;ENSP00000342656:V638I	ENSP00000342656:V638I	V	+	1	0	EXT2	44212346	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	6.127000	0.71642	1.383000	0.46405	0.655000	0.94253	GTC		0.433	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		17	12	0	0	0	1	0	17	12				
PTPRH	5794	broad.mit.edu	37	19	55702874	55702874	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55702874G>T	ENST00000376350.3	-	12	2401	c.2379C>A	c.(2377-2379)gtC>gtA	p.V793V	PTPRH_ENST00000588559.1_5'Flank|PTPRH_ENST00000263434.5_Silent_p.V615V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	793					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCACCTAAAGACCAGATCCC	0.532																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2377-2379)gtC>gtA		protein tyrosine phosphatase, receptor type, H							255.0	253.0	254.0					19																	55702874		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55702874G>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2379C>A	19.37:g.55702874G>T						PTPRH_ENST00000263434.5_Silent_p.V615V	p.V793V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	12	2401	-		Renal(1328;0.245)	793					C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.2379C>A	CCDS33110.1																																																																																				0.532	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			19	234	1	0	3.73194e-20	1	4.89492e-20	19	234				
ADCK1	57143	broad.mit.edu	37	14	78392212	78392212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78392212G>A	ENST00000238561.5	+	9	1213	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.D304N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	379	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGAGCCGGGGATCTCTACCC	0.587																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(1114-1116)Gat>Aat		aarF domain containing kinase 1							154.0	156.0	155.0					14																	78392212		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78392212G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1114G>A	14.37:g.78392212G>A	ENSP00000238561:p.Asp372Asn					ADCK1_ENST00000341211.5_Missense_Mutation_p.D304N|ADCK1_ENST00000556560.1_3'UTR	p.D372N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	9	1213	+			379			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1114G>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475756	0.84640	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.70631	-0.5;0.9	5.26	3.44	0.39384	.	0.189606	0.56097	N	0.000040	T	0.77184	0.4093	M	0.65677	2.01	0.80722	D	1	B;P;P	0.47191	0.275;0.628;0.891	B;B;P	0.54759	0.156;0.347;0.76	T	0.77081	-0.2720	10	0.59425	D	0.04	-12.9162	11.6162	0.51092	0.1451:0.0:0.8549:0.0	.	379;304;372	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	N	372;304	ENSP00000238561:D372N;ENSP00000339663:D304N	ENSP00000238561:D372N	D	+	1	0	ADCK1	77461965	1.000000	0.71417	0.083000	0.20561	0.827000	0.46813	6.726000	0.74758	0.611000	0.30052	-0.163000	0.13421	GAT		0.587	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		60	97	0	0	0	1	0	60	97				
RAI2	10742	broad.mit.edu	37	X	17818660	17818660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818660C>T	ENST00000545871.1	-	3	1931	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	RAI2_ENST00000360011.1_Missense_Mutation_p.A491T|RAI2_ENST00000331511.1_Missense_Mutation_p.A491T|RAI2_ENST00000451717.1_Missense_Mutation_p.A491T|RAI2_ENST00000415486.3_Missense_Mutation_p.A441T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	491					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCTCTGCATTTCCCATG	0.478																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1471-1473)Gca>Aca		retinoic acid induced 2							267.0	279.0	275.0					X																	17818660		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818660C>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1471G>A	X.37:g.17818660C>T	ENSP00000444210:p.Ala491Thr					RAI2_ENST00000331511.1_Missense_Mutation_p.A491T|RAI2_ENST00000360011.1_Missense_Mutation_p.A491T|RAI2_ENST00000451717.1_Missense_Mutation_p.A491T|RAI2_ENST00000415486.3_Missense_Mutation_p.A441T	p.A491T	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	1931	-	Hepatocellular(33;0.183)		491					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1471G>A	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	C	7.953	0.745293	0.15710	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.12	-2.51	0.06365	.	0.976505	0.08376	N	0.955339	T	0.23886	0.0578	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.21930	-1.0231	10	0.44086	T	0.13	3.0628	7.4939	0.27477	0.0989:0.7269:0.0:0.1742	.	441;491	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	T	491;491;491;491;441	ENSP00000333456:A491T;ENSP00000353106:A491T;ENSP00000444210:A491T;ENSP00000401323:A491T;ENSP00000392578:A441T	ENSP00000333456:A491T	A	-	1	0	RAI2	17728581	0.001000	0.12720	0.000000	0.03702	0.975000	0.68041	0.273000	0.18662	-1.004000	0.03421	0.600000	0.82982	GCA		0.478	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		47	523	0	0	0	1	0	47	523				
ZCCHC18	644353	broad.mit.edu	37	X	103358835	103358835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103358835C>T	ENST00000537356.3	+	2	1447	c.33C>T	c.(31-33)agC>agT	p.S11S	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	11							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										TGGGTAACAGCAGGCAGCAGA	0.507																																						ENST00000537356.2																			0											c.(31-33)agC>agT		zinc finger, CCHC domain containing 18							76.0	68.0	71.0					X																	103358835		692	1591	2283	SO:0001819	synonymous_variant	644353						nucleic acid binding|zinc ion binding	g.chrX:103358835C>T	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.33C>T	X.37:g.103358835C>T						ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	p.S11S	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN			1	33	+			11						Silent	SNP	ENST00000537356.3	37	c.33C>T																																																																																					0.507	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		5	15	0	0	0	1	0	5	15				
TUBB	203068	broad.mit.edu	37	6	30690417	30690417	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30690417C>T	ENST00000327892.8	+	2	467	c.161C>T	c.(160-162)gCc>gTc	p.A54V	TUBB_ENST00000396389.1_Missense_Mutation_p.A36V|TUBB_ENST00000435534.1_Missense_Mutation_p.A54V|TUBB_ENST00000396384.1_5'UTR|TUBB_ENST00000330914.3_5'UTR|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	54					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TACAATGAAGCCACAGGTAAG	0.582																																						ENST00000396389.1																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(106-108)gCc>gTc		tubulin, beta class I	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						41.0	38.0	39.0					6																	30690417		1511	2709	4220	SO:0001583	missense	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30690417C>T	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.161C>T	6.37:g.30690417C>T	ENSP00000339001:p.Ala54Val					TUBB_ENST00000435534.1_Missense_Mutation_p.A54V|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000396384.1_5'UTR|TUBB_ENST00000327892.8_Missense_Mutation_p.A54V	p.A36V			P07437	TBB5_HUMAN			2	700	+			54					P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	ENST00000327892.8	37	c.107C>T	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715426	0.68844	.	.	ENSG00000196230	ENST00000327892;ENST00000435534;ENST00000396389	T;T;T	0.70749	-0.51;-0.51;-0.51	4.58	4.58	0.56647	Tubulin/FtsZ, GTPase domain (4);	0.062471	0.64402	D	0.000005	T	0.60779	0.2295	M	0.63428	1.95	0.80722	D	1	B;B	0.14805	0.011;0.007	B;B	0.27500	0.08;0.008	T	0.66893	-0.5808	10	0.87932	D	0	.	15.2018	0.73142	0.0:1.0:0.0:0.0	.	54;54	P07437;F8VW92	TBB5_HUMAN;.	V	54;54;36	ENSP00000339001:A54V;ENSP00000391672:A54V;ENSP00000379672:A36V	ENSP00000339001:A54V	A	+	2	0	TUBB	30798396	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.687000	0.84139	2.245000	0.73994	0.313000	0.20887	GCC		0.582	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		10	7	0	0	0	1	0	10	7				
UNC5CL	222643	broad.mit.edu	37	6	40999435	40999435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40999435C>T	ENST00000373164.1	-	5	1164	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	UNC5CL_ENST00000470102.1_Intron|UNC5CL_ENST00000244565.3_Missense_Mutation_p.M368I			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	368	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAAGGTGTGCATGGTGACAA	0.552																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1102-1104)atG>atA		unc-5 homolog C (C. elegans)-like							186.0	165.0	172.0					6																	40999435		2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40999435C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1104G>A	6.37:g.40999435C>T	ENSP00000362258:p.Met368Ile					UNC5CL_ENST00000470102.1_Intron|UNC5CL_ENST00000373164.1_Missense_Mutation_p.M368I	p.M368I	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			6	1192	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		368			Interaction with RELA and NFKB1.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1104G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562262	0.27915	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13901	2.55;2.55	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000016	T	0.03477	0.0100	N	0.24115	0.695	0.32896	D	0.51256	B	0.31705	0.336	B	0.28784	0.094	T	0.39292	-0.9621	10	0.22109	T	0.4	-28.9297	12.5912	0.56443	0.0:1.0:0.0:0.0	.	368	Q8IV45	UN5CL_HUMAN	I	368	ENSP00000244565:M368I;ENSP00000362258:M368I	ENSP00000244565:M368I	M	-	3	0	UNC5CL	41107413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.953000	0.56699	2.357000	0.79964	0.467000	0.42956	ATG		0.552	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		7	87	0	0	0	1	0	7	87				
HEATR2	54919	broad.mit.edu	37	7	794228	794228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794228C>T	ENST00000297440.6	+	5	1047	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R343C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	343						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGTTCCAGAGCGCCGCCCTGT	0.547																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1027-1029)Cgc>Tgc		HEAT repeat containing 2							123.0	136.0	131.0					7																	794228		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:794228C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1027C>T	7.37:g.794228C>T	ENSP00000297440:p.Arg343Cys					HEATR2_ENST00000313147.5_Missense_Mutation_p.R343C	p.R343C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	5	1047	+		Ovarian(82;0.0112)	343					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1027C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.167372|3.167372	0.57476|0.57476	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000437419;ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.46819	.|0.87;0.86	5.49|5.49	4.34|4.34	0.51931|0.51931	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.965366	.|0.08656	.|N	.|0.913123	T|T	0.42268|0.42268	0.1195|0.1195	L|L	0.40543|0.40543	1.245|1.245	0.23304|0.23304	N|N	0.997947|0.997947	.|D;P	.|0.54207	.|0.965;0.61	.|B;B	.|0.41299	.|0.353;0.235	T|T	0.23404|0.23404	-1.0189|-1.0189	5|10	.|0.56958	.|D	.|0.05	-3.8011|-3.8011	11.4572|11.4572	0.50189|0.50189	0.706:0.2939:0.0:0.0|0.706:0.2939:0.0:0.0	.|.	.|343;89	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	V|C	115;144|343;343;89	.|ENSP00000297440:R343C;ENSP00000321451:R343C	.|ENSP00000297440:R343C	A|R	+|+	2|1	0|0	HEATR2|HEATR2	760754|760754	0.908000|0.908000	0.30866|0.30866	0.056000|0.056000	0.19401|0.19401	0.002000|0.002000	0.02628|0.02628	1.560000|1.560000	0.36331|0.36331	0.903000|0.903000	0.36546|0.36546	-0.535000|-0.535000	0.04281|0.04281	GCG|CGC		0.547	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		147	100	0	0	0	1	0	147	100				
BPIFB4	149954	broad.mit.edu	37	20	31671602	31671602	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31671602G>T	ENST00000375483.3	+	3	599	c.599G>T	c.(598-600)gGa>gTa	p.G200V		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	200	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTTGGTGATGGAGGACTTCTT	0.657																																						ENST00000375483.3																			0											c.(598-600)gGa>gTa		BPI fold containing family B, member 4							35.0	41.0	39.0					20																	31671602		2200	4297	6497	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671602G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.599G>T	20.37:g.31671602G>T	ENSP00000364632:p.Gly200Val						p.G200V	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	599	+			200			Gly-rich.		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.599G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742511	0.30865	.	.	ENSG00000186191	ENST00000375483	T	0.01192	5.2	3.33	2.37	0.29283	.	0.000000	0.46442	D	0.000293	T	0.01454	0.0047	L	0.29908	0.895	0.47308	D	0.999387	D	0.54964	0.969	P	0.54664	0.758	T	0.63225	-0.6685	10	0.06365	T	0.9	-1.6401	6.3782	0.21519	0.1405:0.0:0.8595:0.0	.	200	P59827	BPIB4_HUMAN	V	200	ENSP00000364632:G200V	ENSP00000364632:G200V	G	+	2	0	BPIFB4	31135263	1.000000	0.71417	0.865000	0.33974	0.455000	0.32408	2.404000	0.44539	0.731000	0.32448	0.407000	0.27541	GGA		0.657	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		15	28	1	0	5.03518e-11	1	6.25324e-11	15	28				
TPR	7175	broad.mit.edu	37	1	186330775	186330775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186330775G>T	ENST00000367478.4	-	9	1233	c.937C>A	c.(937-939)Ctt>Att	p.L313I	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	313					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTTCAAAAGTTTGTGTAGT	0.348			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(937-939)Ctt>Att		translocated promoter region, nuclear basket protein							132.0	123.0	126.0					1																	186330775		1837	4088	5925	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186330775G>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.937C>A	1.37:g.186330775G>T	ENSP00000356448:p.Leu313Ile					TPR_ENST00000474852.1_5'UTR	p.L313I	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	9	1233	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	313					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.937C>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858948	0.91433	.	.	ENSG00000047410	ENST00000367478	T	0.28255	1.62	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.46132	0.1377	L	0.61387	1.9	0.47778	D	0.999517	P;D	0.62365	0.947;0.991	P;P	0.55713	0.58;0.782	T	0.19451	-1.0305	10	0.18710	T	0.47	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	313;313	Q15624;P12270	.;TPR_HUMAN	I	313	ENSP00000356448:L313I	ENSP00000356448:L313I	L	-	1	0	TPR	184597398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.307000	0.72815	2.567000	0.86603	0.655000	0.94253	CTT		0.348	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		49	55	1	0	6.3237e-29	1	8.45558e-29	49	55				
TG	7038	broad.mit.edu	37	8	133945841	133945841	+	Missense_Mutation	SNP	G	G	A	rs114101452		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133945841G>A	ENST00000220616.4	+	24	4892	c.4852G>A	c.(4852-4854)Gtg>Atg	p.V1618M	TG_ENST00000377869.1_Missense_Mutation_p.V1561M|TG_ENST00000542445.1_Missense_Mutation_p.V52M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1618					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTTCACCGTGTCCACGAC	0.572																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4852-4854)Gtg>Atg		thyroglobulin		G	MET/VAL	0,4406		0,0,2203	290.0	215.0	241.0		4852	0.1	0.0	8	dbSNP_132	241	1,8599	1.2+/-3.3	0,1,4299	no	missense	TG	NM_003235.4	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1618/2769	133945841	1,13005	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133945841G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4852G>A	8.37:g.133945841G>A	ENSP00000220616:p.Val1618Met					TG_ENST00000542445.1_Missense_Mutation_p.V52M|TG_ENST00000377869.1_Missense_Mutation_p.V1561M	p.V1618M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	24	4892	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1618					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4852G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.007|4.007	-0.001376|-0.001376	0.07819|0.07819	0.0|0.0	1.16E-4|1.16E-4	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445	.|T;T;T	.|0.68025	.|-0.3;-0.3;-0.3	5.3|5.3	0.124|0.124	0.14714|0.14714	.|.	.|0.723471	.|0.12739	.|N	.|0.443220	T|T	0.53948|0.53948	0.1828|0.1828	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;P	.|0.36199	.|0.053;0.543	.|B;B	.|0.30855	.|0.02;0.121	T|T	0.42916|0.42916	-0.9423|-0.9423	5|10	.|0.62326	.|D	.|0.03	.|.	7.7993|7.7993	0.29166|0.29166	0.5058:0.0:0.4942:0.0|0.5058:0.0:0.4942:0.0	.|.	.|52;1618	.|F5GWW5;P01266	.|.;THYG_HUMAN	H|M	137|1561;424;1618;52	.|ENSP00000367100:V1561M;ENSP00000220616:V1618M;ENSP00000441693:V52M	.|ENSP00000220616:V1618M	R|V	+|+	2|1	0|0	TG|TG	134015023|134015023	0.094000|0.094000	0.21725|0.21725	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	0.590000|0.590000	0.23954|0.23954	-0.164000|-0.164000	0.10927|0.10927	-1.040000|-1.040000	0.02373|0.02373	CGT|GTG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	72	0	0	0	1	0	4	72				
UBP1	7342	broad.mit.edu	37	3	33441687	33441687	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33441687A>C	ENST00000283629.3	-	11	1703	c.1174T>G	c.(1174-1176)Ttt>Gtt	p.F392V	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.F392V|UBP1_ENST00000447368.2_Missense_Mutation_p.F356V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	392					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATACCTGAAAAATTAGAGAAC	0.328																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(1174-1176)Ttt>Gtt		upstream binding protein 1 (LBP-1a)							130.0	115.0	120.0					3																	33441687		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33441687A>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1174T>G	3.37:g.33441687A>C	ENSP00000283629:p.Phe392Val					UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.F392V|UBP1_ENST00000447368.2_Missense_Mutation_p.F356V	p.F392V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			11	1703	-			392					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.1174T>G	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.013447	0.93346	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.37584	1.19;1.33;1.19	6.16	6.16	0.99307	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.978	T	0.69803	-0.5046	10	0.87932	D	0	-20.5802	16.8061	0.85666	1.0:0.0:0.0:0.0	.	356;392	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	V	392;356;392	ENSP00000283629:F392V;ENSP00000395558:F356V;ENSP00000283628:F392V	ENSP00000283628:F392V	F	-	1	0	UBP1	33416691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.109000	0.94291	2.367000	0.80283	0.528000	0.53228	TTT		0.328	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		7	48	0	0	0	1	0	7	48				
TBC1D9B	23061	broad.mit.edu	37	5	179292287	179292287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179292287C>A	ENST00000356834.3	-	21	3076	c.3039G>T	c.(3037-3039)aaG>aaT	p.K1013N	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.K996N|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.K172N|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.K154N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1013						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAATCGTCTCCTTCTGAGCCT	0.517																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(3037-3039)aaG>aaT		TBC1 domain family, member 9B (with GRAM domain)							147.0	143.0	144.0					5																	179292287		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179292287C>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3039G>T	5.37:g.179292287C>A	ENSP00000349291:p.Lys1013Asn					TBC1D9B_ENST00000444477.2_Missense_Mutation_p.K154N|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.K996N|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.K172N	p.K1013N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		21	3076	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1013					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.3039G>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913818	0.33815	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.38077	2.91;3.02;1.16;1.44	5.08	4.09	0.47781	.	0.394035	0.25156	N	0.032716	T	0.52549	0.1741	M	0.66506	2.035	0.49130	D	0.999753	B;B;B;D;D	0.89917	0.029;0.05;0.049;0.995;1.0	B;B;B;D;D	0.87578	0.01;0.022;0.017;0.911;0.998	T	0.46527	-0.9185	10	0.32370	T	0.25	-37.6339	8.8943	0.35453	0.0:0.7934:0.0:0.2066	.	995;996;1013;212;87	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	N	1013;996;172;154;87	ENSP00000349291:K1013N;ENSP00000347375:K996N;ENSP00000430293:K172N;ENSP00000401585:K154N	ENSP00000347375:K996N	K	-	3	2	TBC1D9B	179224893	0.995000	0.38212	1.000000	0.80357	0.977000	0.68977	0.355000	0.20163	2.364000	0.80123	0.462000	0.41574	AAG		0.517	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		8	87	1	0	5.4927e-09	1	6.6252e-09	8	87				
CCDC68	80323	broad.mit.edu	37	18	52586565	52586565	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52586565C>A	ENST00000591504.1	-	9	1000	c.726G>T	c.(724-726)caG>caT	p.Q242H	CCDC68_ENST00000432185.1_Missense_Mutation_p.Q242H|CCDC68_ENST00000337363.4_Missense_Mutation_p.Q242H	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	242										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GATGAGAGATCTGCTCCTGGA	0.453																																						ENST00000591504.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14						c.(724-726)caG>caT		coiled-coil domain containing 68							123.0	118.0	120.0					18																	52586565		2203	4300	6503	SO:0001583	missense	80323							g.chr18:52586565C>A		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.726G>T	18.37:g.52586565C>A	ENSP00000466690:p.Gln242His					CCDC68_ENST00000432185.1_Missense_Mutation_p.Q242H|CCDC68_ENST00000337363.4_Missense_Mutation_p.Q242H	p.Q242H	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	9	1000	-			242					B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	c.726G>T	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512876	0.44660	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.17528	2.27;2.27	5.65	2.87	0.33458	.	0.000000	0.50627	D	0.000114	T	0.36276	0.0961	M	0.70595	2.14	0.33316	D	0.566737	D	0.89917	1.0	D	0.91635	0.999	T	0.50101	-0.8867	10	0.72032	D	0.01	-12.9812	8.3491	0.32292	0.0:0.7456:0.0:0.2544	.	242	Q9H2F9	CCD68_HUMAN	H	242	ENSP00000337209:Q242H;ENSP00000413406:Q242H	ENSP00000337209:Q242H	Q	-	3	2	CCDC68	50737563	0.999000	0.42202	1.000000	0.80357	0.337000	0.28794	0.286000	0.18902	0.730000	0.32425	-0.150000	0.13652	CAG		0.453	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		9	62	1	0	0.00621372	1	0.00652201	9	62				
AKAP13	11214	broad.mit.edu	37	15	86124819	86124819	+	Missense_Mutation	SNP	G	G	A	rs147919379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86124819G>A	ENST00000394518.2	+	7	3615	c.3520G>A	c.(3520-3522)Gct>Act	p.A1174T	AKAP13_ENST00000361243.2_Missense_Mutation_p.A1174T|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1174					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CATGGGTGACGCTGAGGAAGC	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20860	0.0		0.0	False		,,,				2504	0.0				Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3520-3522)Gct>Act		A kinase (PRKA) anchor protein 13		G	THR/ALA,THR/ALA	0,4404		0,0,2202	88.0	88.0	88.0		3520,3520	-4.1	0.0	15	dbSNP_134	88	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	AKAP13	NM_006738.4,NM_007200.3	58,58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1174/2818,1174/2814	86124819	1,13001	2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124819G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3520G>A	15.37:g.86124819G>A	ENSP00000378026:p.Ala1174Thr					AKAP13_ENST00000361243.2_Missense_Mutation_p.A1174T	p.A1174T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3615	+			1174					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3520G>A	CCDS32319.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.66	1.706205	0.30232	0.0	1.16E-4	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12039	2.72;2.72	5.05	-4.1	0.03940	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42783	-0.9431	9	0.18710	T	0.47	.	1.1856	0.01854	0.1328:0.2586:0.2815:0.3271	.	1174;1174	Q12802;Q12802-2	AKP13_HUMAN;.	T	1174;1174;1173;1173	ENSP00000354718:A1174T;ENSP00000378026:A1174T	ENSP00000354718:A1174T	A	+	1	0	AKAP13	83925823	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.604000	0.05667	-0.315000	0.08703	-0.276000	0.10085	GCT		0.552	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		26	41	0	0	0	1	0	26	41				
CBX4	8535	broad.mit.edu	37	17	77808427	77808427	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808427C>T	ENST00000269397.4	-	5	1191	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGGGCTGCGGATCGCTAA	0.667											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1012-1014)ccG>ccA		chromobox homolog 4							22.0	22.0	22.0					17																	77808427		2203	4299	6502	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808427C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1014G>A	17.37:g.77808427C>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.P338P	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1191	-			338			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.1014G>A	CCDS32758.1																																																																																				0.667	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		12	16	0	0	0	1	0	12	16				
EAF1	85403	broad.mit.edu	37	3	15478058	15478058	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15478058A>C	ENST00000396842.2	+	5	1161	c.736A>C	c.(736-738)Agc>Cgc	p.S246R	EAF1-AS1_ENST00000608780.1_RNA|EAF1-AS1_ENST00000594820.1_RNA|EAF1-AS1_ENST00000595975.1_RNA|EAF1-AS1_ENST00000596371.1_RNA|EAF1-AS1_ENST00000595627.1_RNA|EAF1_ENST00000432764.2_Missense_Mutation_p.S145R|EAF1-AS1_ENST00000609310.1_RNA|EAF1-AS1_ENST00000597949.1_RNA|EAF1-AS1_ENST00000494875.3_RNA|EAF1-AS1_ENST00000593876.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	246	Necessary for transactivation activity.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GCCACAAGGAAGCAACCAGCT	0.547																																						ENST00000396842.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						c.(736-738)Agc>Cgc		ELL associated factor 1							65.0	55.0	59.0					3																	15478058		2203	4299	6502	SO:0001583	missense	85403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding	g.chr3:15478058A>C	AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.736A>C	3.37:g.15478058A>C	ENSP00000380054:p.Ser246Arg					EAF1-AS1_ENST00000597949.1_RNA|EAF1_ENST00000432764.2_Missense_Mutation_p.S145R	p.S246R	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN			5	1161	+			246			Necessary for transactivation activity.		B4E3F5|Q8IW10	Missense_Mutation	SNP	ENST00000396842.2	37	c.736A>C	CCDS2626.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.875992	0.72180	.	.	ENSG00000144597	ENST00000396842;ENST00000432764	.	.	.	5.71	4.56	0.56223	.	0.308676	0.43416	D	0.000573	T	0.48537	0.1505	L	0.43923	1.385	0.34547	D	0.710919	B;B	0.23650	0.062;0.089	B;B	0.18871	0.021;0.023	T	0.57854	-0.7739	9	0.66056	D	0.02	-11.4754	10.7436	0.46168	0.9244:0.0:0.0756:0.0	.	145;246	B4E3F5;Q96JC9	.;EAF1_HUMAN	R	246;145	.	ENSP00000380054:S246R	S	+	1	0	EAF1	15453062	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.147000	0.77382	1.002000	0.39104	0.454000	0.30748	AGC		0.547	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252100.4	NM_033083		14	20	0	0	0	1	0	14	20				
RAB37	326624	broad.mit.edu	37	17	72725432	72725432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72725432C>A	ENST00000340415.3	+	2	1119	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	RAB37_ENST00000402449.4_Missense_Mutation_p.S37Y	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	44					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAAAGACGTCTCTGCTGGTT	0.587																																						ENST00000340415.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(109-111)tCt>tAt		RAB37, member RAS oncogene family							257.0	206.0	224.0					17																	72725432		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72725432C>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.110C>A	17.37:g.72725432C>A	ENSP00000341354:p.Ser37Tyr					RAB37_ENST00000402449.4_Missense_Mutation_p.S37Y	p.S37Y	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN			2	1119	+			44					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000340415.3	37	c.110C>A		.	.	.	.	.	.	.	.	.	.	c	23.2	4.391910	0.83011	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617	D;D	0.83591	-1.74;-1.74	5.09	5.09	0.68999	.	.	.	.	.	D	0.91290	0.7254	M	0.85630	2.765	0.80722	D	1	P;P;D	0.58970	0.855;0.88;0.984	P;P;D	0.65323	0.69;0.853;0.934	D	0.92722	0.6192	9	0.87932	D	0	.	16.3503	0.83202	0.0:1.0:0.0:0.0	.	37;37;37	Q96AX2-2;A8MSP2;A8MUU7	.;.;.	Y	37	ENSP00000341354:S37Y;ENSP00000383934:S37Y	ENSP00000341354:S37Y	S	+	2	0	RAB37	70237027	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.372000	0.66156	2.400000	0.81607	0.639000	0.83563	TCT		0.587	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738		35	59	1	0	4.32679e-17	1	5.60236e-17	35	59				
CHMP3	51652	broad.mit.edu	37	2	86737498	86737498	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86737498A>G	ENST00000263856.4	-	4	519	c.391T>C	c.(391-393)Tcc>Ccc	p.S131P	CHMP3_ENST00000409225.2_Missense_Mutation_p.S65P|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.S160P|CHMP3_ENST00000439940.2_Missense_Mutation_p.S160P|CHMP3_ENST00000494623.1_5'UTR|CHMP3_ENST00000409727.1_Missense_Mutation_p.S91P	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	131					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											ATTTCTTTGGACAACTCCCTC	0.517																																						ENST00000263856.4																			0											c.(391-393)Tcc>Ccc		charged multivesicular body protein 3							125.0	108.0	114.0					2																	86737498		2203	4300	6503	SO:0001583	missense	51652							g.chr2:86737498A>G	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.391T>C	2.37:g.86737498A>G	ENSP00000263856:p.Ser131Pro					CHMP3_ENST00000409727.1_Missense_Mutation_p.S91P|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.S160P|CHMP3_ENST00000409225.2_Missense_Mutation_p.S65P|CHMP3_ENST00000439940.2_Missense_Mutation_p.S160P|CHMP3_ENST00000494623.1_5'UTR	p.S131P	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					4	519	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	c.391T>C	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630106	0.87660	.	.	ENSG00000115561	ENST00000263856;ENST00000409727;ENST00000409225;ENST00000439940	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.995;0.996;1.0	D	0.91013	0.4851	10	0.87932	D	0	-9.5927	14.7032	0.69168	1.0:0.0:0.0:0.0	.	160;91;131	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	P	131;91;65;160	ENSP00000263856:S131P;ENSP00000387045:S91P;ENSP00000386590:S65P;ENSP00000405575:S160P	ENSP00000263856:S131P	S	-	1	0	VPS24	86591009	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.898000	0.92538	2.014000	0.59158	0.533000	0.62120	TCC		0.517	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		3	48	0	0	0	1	0	3	48				
MRPS9	64965	broad.mit.edu	37	2	105713700	105713700	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105713700G>A	ENST00000258455.3	+	10	1127	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	AC104655.2_ENST00000432211.1_RNA|AC104655.2_ENST00000449177.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	339					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAGGTCAGCGCAGGCTGGAG	0.557																																						ENST00000258455.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1015-1017)gcG>gcA		mitochondrial ribosomal protein S9							104.0	90.0	95.0					2																	105713700		2203	4300	6503	SO:0001819	synonymous_variant	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105713700G>A		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.1017G>A	2.37:g.105713700G>A						AC104655.2_ENST00000432211.1_RNA|AC104655.2_ENST00000449177.1_RNA	p.A339A	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			10	1127	+			339					Q6PG40	Silent	SNP	ENST00000258455.3	37	c.1017G>A	CCDS2065.1																																																																																				0.557	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		25	36	0	0	0	1	0	25	36				
PLXNA4	91584	broad.mit.edu	37	7	131887409	131887409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131887409G>A	ENST00000359827.3	-	12	3544	c.2582C>T	c.(2581-2583)aCa>aTa	p.T861I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T861I			Q9HCM2	PLXA4_HUMAN	plexin A4	861	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTACCTCTGTGATGCGGGG	0.662																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2581-2583)aCa>aTa		plexin A4							38.0	41.0	40.0					7																	131887409		1962	4149	6111	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131887409G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2582C>T	7.37:g.131887409G>A	ENSP00000352882:p.Thr861Ile					PLXNA4_ENST00000321063.4_Missense_Mutation_p.T861I	p.T861I			Q9HCM2	PLXA4_HUMAN			12	3544	-			861			IPT/TIG 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2582C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402486	0.25291	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.79247	-1.25;-1.25	4.54	1.44	0.22558	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	0.056716	0.64402	D	0.000001	T	0.74061	0.3667	M	0.78456	2.415	0.50632	D	0.999883	B	0.21147	0.052	B	0.26969	0.075	T	0.66917	-0.5802	10	0.33940	T	0.23	.	7.9617	0.30074	0.1587:0.0:0.7018:0.1395	.	861	Q9HCM2	PLXA4_HUMAN	I	861	ENSP00000323194:T861I;ENSP00000352882:T861I	ENSP00000323194:T861I	T	-	2	0	PLXNA4	131537949	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	6.465000	0.73538	0.542000	0.28846	0.561000	0.74099	ACA		0.662	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		35	27	0	0	0	1	0	35	27				
UBQLNL	143630	broad.mit.edu	37	11	5537069	5537069	+	Silent	SNP	C	C	T	rs199511572	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5537069C>T	ENST00000380184.1	-	1	866	c.603G>A	c.(601-603)acG>acA	p.T201T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	201								p.T201T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCAATTGTTGCGTGTCTAGAT	0.483													C|||	6	0.00119808	0.0	0.0	5008	,	,		21068	0.001		0.0	False		,,,				2504	0.0051					ENST00000380184.1																			1	Substitution - coding silent(1)	p.T201T(1)	large_intestine(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(601-603)acG>acA		ubiquilin-like							133.0	132.0	132.0					11																	5537069		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5537069C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.603G>A	11.37:g.5537069C>T						HBG2_ENST00000380259.2_Intron	p.T201T	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	866	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	201					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.603G>A	CCDS31385.1																																																																																				0.483	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		50	78	0	0	0	1	0	50	78				
ABCC8	6833	broad.mit.edu	37	11	17470208	17470208	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17470208T>C	ENST00000389817.3	-	8	1255	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	ABCC8_ENST00000302539.4_Missense_Mutation_p.Y396C			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	396	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AATTTTATTGTAAATCTTGGT	0.458																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1186-1188)tAc>tGc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						175.0	168.0	170.0					11																	17470208		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17470208T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1187A>G	11.37:g.17470208T>C	ENSP00000374467:p.Tyr396Cys					ABCC8_ENST00000389817.3_Missense_Mutation_p.Y396C	p.Y396C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	8	1312	-			396			ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1187A>G	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.115355	0.56505	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.95001	-3.58;-3.58	4.79	3.66	0.41972	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.138824	0.50627	D	0.000118	D	0.97751	0.9262	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.98016	1.0368	10	0.87932	D	0	.	12.1237	0.53905	0.0:0.0:0.1436:0.8563	.	395;396	B7Z4N0;Q09428	.;ABCC8_HUMAN	C	396;396;410	ENSP00000374467:Y396C;ENSP00000303960:Y396C	ENSP00000303960:Y396C	Y	-	2	0	ABCC8	17426784	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.869000	0.63028	0.963000	0.38082	-0.375000	0.07067	TAC		0.458	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		56	71	0	0	0	1	0	56	71				
GLI2	2736	broad.mit.edu	37	2	121746916	121746916	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121746916G>A	ENST00000452319.1	+	14	3486	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	GLI2_ENST00000361492.4_Missense_Mutation_p.M1142I|GLI2_ENST00000314490.11_Missense_Mutation_p.M814I					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAAATAACATGCCTGTGCAGT	0.637																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3424-3426)atG>atA		GLI family zinc finger 2							28.0	27.0	28.0					2																	121746916		2193	4272	6465	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746916G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3426G>A	2.37:g.121746916G>A	ENSP00000390436:p.Met1142Ile					GLI2_ENST00000361492.4_Missense_Mutation_p.M1142I|GLI2_ENST00000314490.11_Missense_Mutation_p.M814I	p.M1142I			P10070	GLI2_HUMAN			14	3486	+	Renal(3;0.0496)	Prostate(154;0.0623)	1142						Missense_Mutation	SNP	ENST00000452319.1	37	c.3426G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999843	0.54147	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.15372	2.43;2.43;2.44	4.87	3.98	0.46160	.	0.125728	0.64402	N	0.000001	T	0.27384	0.0672	M	0.68952	2.095	0.46185	D	0.998913	B;B;P;B	0.41978	0.067;0.2;0.767;0.264	B;B;P;B	0.45712	0.012;0.09;0.491;0.05	T	0.08146	-1.0736	10	0.66056	D	0.02	.	14.7373	0.69424	0.0:0.0:0.8543:0.1457	.	1142;797;797;814	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	I	1142;1142;814	ENSP00000390436:M1142I;ENSP00000354586:M1142I;ENSP00000312694:M814I	ENSP00000312694:M814I	M	+	3	0	GLI2	121463386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.352000	0.73027	1.269000	0.44280	0.449000	0.29647	ATG		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	17	0	0	0	1	0	7	17				
SCN11A	11280	broad.mit.edu	37	3	38908884	38908884	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38908884G>T	ENST00000302328.3	-	23	4077	c.3879C>A	c.(3877-3879)atC>atA	p.I1293I	SCN11A_ENST00000450244.1_Silent_p.I1293I|SCN11A_ENST00000444237.2_Silent_p.I1293I|SCN11A_ENST00000456224.3_Silent_p.I1255I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1293					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGAGCCAAAGATGATAAAGA	0.343																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3877-3879)atC>atA		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						140.0	135.0	137.0					3																	38908884		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38908884G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3879C>A	3.37:g.38908884G>T						SCN11A_ENST00000456224.3_Silent_p.I1255I|SCN11A_ENST00000444237.2_Silent_p.I1293I|SCN11A_ENST00000302328.3_Silent_p.I1293I	p.I1293I			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	23	4077	-			1293					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.3879C>A	CCDS33737.1																																																																																				0.343	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		7	87	1	0	0.000157383	1	0.00017284	7	87				
HTR7	3363	broad.mit.edu	37	10	92508915	92508915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:92508915C>T	ENST00000336152.3	-	2	1002	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	HTR7_ENST00000277874.6_Missense_Mutation_p.A326T|HTR7_ENST00000371719.2_Missense_Mutation_p.A326T|HTR7_ENST00000371721.3_Missense_Mutation_p.A326T	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	326					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGGGTGGTGGCTGCTTTCTGT	0.527																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(976-978)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						90.0	79.0	82.0					10																	92508915		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508915C>T	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.976G>A	10.37:g.92508915C>T	ENSP00000337949:p.Ala326Thr					HTR7_ENST00000336152.3_Missense_Mutation_p.A326T|HTR7_ENST00000277874.6_Missense_Mutation_p.A326T|HTR7_ENST00000371719.2_Missense_Mutation_p.A326T	p.A326T			P34969	5HT7R_HUMAN			2	1218	-			326					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.976G>A	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163258	0.57476	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	N	0.25890	0.77	0.51233	D	0.999918	D;P	0.62365	0.991;0.942	D;P	0.64321	0.924;0.827	T	0.77574	-0.2537	10	0.37606	T	0.19	.	19.0553	0.93062	0.0:1.0:0.0:0.0	.	326;326	P34969;P34969-2	5HT7R_HUMAN;.	T	326	ENSP00000337949:A326T;ENSP00000277874:A326T;ENSP00000360784:A326T;ENSP00000360786:A326T	ENSP00000277874:A326T	A	-	1	0	HTR7	92498895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.995000	0.70631	2.499000	0.84300	0.650000	0.86243	GCC		0.527	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		15	24	0	0	0	1	0	15	24				
MUC16	94025	broad.mit.edu	37	19	9086021	9086021	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086021T>C	ENST00000397910.4	-	1	5997	c.5794A>G	c.(5794-5796)Ata>Gta	p.I1932V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1932	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTAAGCTTATGGCCCTGTTT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5794-5796)Ata>Gta		mucin 16, cell surface associated							155.0	149.0	151.0					19																	9086021		2017	4172	6189	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086021T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5794A>G	19.37:g.9086021T>C	ENSP00000381008:p.Ile1932Val						p.I1932V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5997	-			1932			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5794A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.845	-0.740505	0.03088	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	0.502	0.502	0.16932	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.32771	-0.9894	7	0.87932	D	0	.	.	.	.	.	1932	B5ME49	.	V	1932	ENSP00000381008:I1932V	ENSP00000381008:I1932V	I	-	1	0	MUC16	8947021	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.075000	0.11431	0.437000	0.26423	0.260000	0.18958	ATA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	43	0	0	0	1	0	4	43				
GOLGA5	9950	broad.mit.edu	37	14	93276605	93276605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93276605G>A	ENST00000163416.2	+	5	1255	c.999G>A	c.(997-999)atG>atA	p.M333I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.M333I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	333					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTAGAATAATGCAGGATCAAA	0.423			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(997-999)atG>atA		golgin A5							49.0	52.0	51.0					14																	93276605		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93276605G>A	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.999G>A	14.37:g.93276605G>A	ENSP00000163416:p.Met333Ile					GOLGA5_ENST00000355976.2_Missense_Mutation_p.M333I	p.M333I	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	5	1255	+		all_cancers(154;0.0934)	333					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.999G>A	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	g	9.966	1.224116	0.22457	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.41065	1.01;1.01	5.63	1.49	0.22878	.	0.567407	0.16828	N	0.197871	T	0.21841	0.0526	N	0.14661	0.345	0.35842	D	0.826148	B	0.02656	0.0	B	0.04013	0.001	T	0.13548	-1.0505	10	0.22706	T	0.39	-0.5983	7.3581	0.26731	0.2879:0.1229:0.5892:0.0	.	333	Q8TBA6	GOGA5_HUMAN	I	333;333;242	ENSP00000163416:M333I;ENSP00000348252:M333I	ENSP00000163416:M333I	M	+	3	0	GOLGA5	92346358	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	1.650000	0.37292	0.049000	0.15920	-0.374000	0.07098	ATG		0.423	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			12	16	0	0	0	1	0	12	16				
DDX19A	55308	broad.mit.edu	37	16	70390074	70390074	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70390074A>G	ENST00000302243.7	+	4	380	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DDX19A_ENST00000562509.1_3'UTR|DDX19A_ENST00000417604.2_Missense_Mutation_p.T73A|DDX19A_ENST00000443119.2_5'Flank|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	73	N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGTTGATAACACAAACCAAGT	0.483																																						ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(217-219)Aca>Gca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A							245.0	224.0	231.0					16																	70390074		2198	4300	6498	SO:0001583	missense	55308							g.chr16:70390074A>G	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.217A>G	16.37:g.70390074A>G	ENSP00000306117:p.Thr73Ala					DDX19A_ENST00000562509.1_3'UTR|DDX19A_ENST00000417604.2_Missense_Mutation_p.T73A|RP11-529K1.3_ENST00000567706.1_Intron	p.T73A	NM_018332.3	NP_060802.1					4	380	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	ENST00000302243.7	37	c.217A>G	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440113	0.63067	.	.	ENSG00000168872	ENST00000302243;ENST00000417604	T;T	0.03468	4.07;3.92	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.05640	0.0148	L	0.52266	1.64	0.80722	D	1	B;B	0.21309	0.054;0.02	B;B	0.22386	0.039;0.018	T	0.35400	-0.9790	10	0.32370	T	0.25	0.0039	13.8624	0.63569	1.0:0.0:0.0:0.0	.	73;73	B4DS24;Q9NUU7	.;DD19A_HUMAN	A	73	ENSP00000306117:T73A;ENSP00000410243:T73A	ENSP00000306117:T73A	T	+	1	0	DDX19A	68947575	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.902000	0.75699	2.224000	0.72417	0.533000	0.62120	ACA		0.483	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		17	228	0	0	0	1	0	17	228				
TMC2	117532	broad.mit.edu	37	20	2592911	2592911	+	Silent	SNP	C	C	T	rs144876435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592911C>T	ENST00000358864.1	+	13	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	556					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16762	0.001		0.0	False		,,,				2504	0.0					ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1666-1668)aaC>aaT		transmembrane channel-like 2		C		4,4402	8.1+/-20.4	0,4,2199	128.0	115.0	119.0		1668	-8.0	0.3	20	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	TMC2	NM_080751.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		556/907	2592911	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2592911C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1668C>T	20.37:g.2592911C>T						TMC2_ENST00000496948.1_3'UTR	p.N556N	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			13	1683	+			556					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1668C>T	CCDS13029.2																																																																																				0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			10	98	0	0	0	1	0	10	98				
KDR	3791	broad.mit.edu	37	4	55976632	55976632	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55976632A>G	ENST00000263923.4	-	9	1488	c.1193T>C	c.(1192-1194)gTc>gCc	p.V398A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	398	Ig-like C2-type 4.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V398A(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAAGGATGACAGTGTAATT	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		1	Substitution - Missense(1)	p.V398A(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(1192-1194)gTc>gCc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						161.0	136.0	144.0					4																	55976632		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55976632A>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1193T>C	4.37:g.55976632A>G	ENSP00000263923:p.Val398Ala	TSP Lung(20;0.16)					p.V398A	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		9	1488	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		398			Ig-like C2-type 4.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1193T>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.212601	0.39102	.	.	ENSG00000128052	ENST00000263923	T	0.80214	-1.35	5.81	4.61	0.57282	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.252926	0.39083	N	0.001480	T	0.80607	0.4655	L	0.60845	1.875	0.37749	D	0.925896	P;P	0.49559	0.925;0.879	B;P	0.47864	0.343;0.559	T	0.83140	-0.0109	10	0.72032	D	0.01	.	11.021	0.47718	0.8611:0.0:0.0:0.1389	.	398;398	P35968-2;P35968	.;VGFR2_HUMAN	A	398	ENSP00000263923:V398A	ENSP00000263923:V398A	V	-	2	0	KDR	55671389	1.000000	0.71417	0.115000	0.21578	0.006000	0.05464	8.426000	0.90273	0.999000	0.39023	-0.490000	0.04691	GTC		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			30	53	0	0	0	1	0	30	53				
KCNT2	343450	broad.mit.edu	37	1	196274387	196274387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196274387G>A	ENST00000294725.9	-	22	3487	c.2572C>T	c.(2572-2574)Ctt>Ttt	p.L858F	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367433.5_Missense_Mutation_p.L834F|KCNT2_ENST00000609185.1_Missense_Mutation_p.L784F|KCNT2_ENST00000367431.4_Missense_Mutation_p.L784F|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	858					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAAGAGCAAGAGAGTAACAG	0.338																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2500-2502)Ctt>Ttt		potassium channel, subfamily T, member 2							132.0	122.0	126.0					1																	196274387		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196274387G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2572C>T	1.37:g.196274387G>A	ENSP00000294725:p.Leu858Phe					KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.L858F|KCNT2_ENST00000367431.4_Missense_Mutation_p.L784F|KCNT2_ENST00000498426.1_5'UTR	p.L834F			Q6UVM3	KCNT2_HUMAN			21	2601	-			858					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2500C>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159557	0.57368	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.81163	-1.46;-1.46;-1.46	4.56	4.56	0.56223	.	0.122857	0.37053	N	0.002280	D	0.88153	0.6360	M	0.81942	2.565	0.80722	D	1	D;D;D;B;D	0.69078	0.978;0.997;0.997;0.439;0.978	P;D;D;B;P	0.69142	0.822;0.962;0.962;0.249;0.822	D	0.88202	0.2884	10	0.51188	T	0.08	-6.8714	11.3931	0.49825	0.0835:0.0:0.9165:0.0	.	858;816;834;784;858	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	F	834;784;858	ENSP00000356403:L834F;ENSP00000356401:L784F;ENSP00000294725:L858F	ENSP00000294725:L858F	L	-	1	0	KCNT2	194541010	0.994000	0.37717	0.994000	0.49952	0.996000	0.88848	2.230000	0.42999	2.525000	0.85131	0.650000	0.86243	CTT		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		30	34	0	0	0	1	0	30	34				
ATF4	468	broad.mit.edu	37	22	39917987	39917987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39917987G>T	ENST00000337304.2	+	2	1318	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	ATF4_ENST00000396680.1_Nonsense_Mutation_p.E146*|ATF4_ENST00000404241.2_Nonsense_Mutation_p.E146*	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	146					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CCATCTCCCAGAAAGTTTAAC	0.532																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(436-438)Gaa>Taa		activating transcription factor 4							119.0	134.0	129.0					22																	39917987		2203	4300	6503	SO:0001587	stop_gained	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917987G>T	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.436G>T	22.37:g.39917987G>T	ENSP00000336790:p.Glu146*					ATF4_ENST00000404241.2_Nonsense_Mutation_p.E146*|ATF4_ENST00000396680.1_Nonsense_Mutation_p.E146*	p.E146*	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1318	+	Melanoma(58;0.04)		146					Q9UH31	Nonsense_Mutation	SNP	ENST00000337304.2	37	c.436G>T	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	G	37	6.257717	0.97417	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	.	.	.	4.74	4.74	0.60224	.	0.361758	0.31335	N	0.007823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.4421	12.2374	0.54524	0.0822:0.0:0.9178:0.0	.	.	.	.	X	146	.	ENSP00000336790:E146X	E	+	1	0	ATF4	38247933	1.000000	0.71417	0.969000	0.41365	0.989000	0.77384	4.422000	0.59854	2.179000	0.69175	0.561000	0.74099	GAA		0.532	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		8	148	1	0	0.00448238	1	0.00472561	8	148				
CCDC47	57003	broad.mit.edu	37	17	61833660	61833660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61833660C>T	ENST00000225726.5	-	8	1270	c.888G>A	c.(886-888)ccG>ccA	p.P296P	CCDC47_ENST00000403162.3_Silent_p.P296P|CCDC47_ENST00000582252.1_Silent_p.P296P	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	296					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CCAAAGAGTCCGGCAGTCCAT	0.423																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(886-888)ccG>ccA		coiled-coil domain containing 47							113.0	107.0	109.0					17																	61833660		2203	4300	6503	SO:0001819	synonymous_variant	57003					integral to membrane	protein binding	g.chr17:61833660C>T	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.888G>A	17.37:g.61833660C>T						CCDC47_ENST00000403162.3_Silent_p.P296P|CCDC47_ENST00000582252.1_Silent_p.P296P	p.P296P	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			8	1270	-			296					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Silent	SNP	ENST00000225726.5	37	c.888G>A	CCDS11643.1																																																																																				0.423	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		4	60	0	0	0	1	0	4	60				
PTPN3	5774	broad.mit.edu	37	9	112143976	112143976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112143976C>T	ENST00000374541.2	-	25	2724	c.2620G>A	c.(2620-2622)Gtc>Atc	p.V874I	PTPN3_ENST00000446349.1_Missense_Mutation_p.V698I|PTPN3_ENST00000394827.3_Missense_Mutation_p.V342I|PTPN3_ENST00000412145.1_Missense_Mutation_p.V743I|PTPN3_ENST00000262539.3_Missense_Mutation_p.V720I	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	874	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATTTTTCGGACAATATCCAGT	0.512																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(2227-2229)Gtc>Atc		protein tyrosine phosphatase, non-receptor type 3							207.0	166.0	180.0					9																	112143976		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112143976C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2620G>A	9.37:g.112143976C>T	ENSP00000363667:p.Val874Ile					PTPN3_ENST00000374541.2_Missense_Mutation_p.V874I|PTPN3_ENST00000262539.3_Missense_Mutation_p.V720I|PTPN3_ENST00000394827.3_Missense_Mutation_p.V342I|PTPN3_ENST00000446349.1_Missense_Mutation_p.V698I	p.V743I	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			20	4780	-			874			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.2227G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285002	0.59867	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.63	2.33	0.28932	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.183684	0.47093	N	0.000260	D	0.83737	0.5319	L	0.53561	1.675	0.40754	D	0.982947	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.22753	0.008;0.01;0.041	T	0.80832	-0.1206	10	0.62326	D	0.03	.	12.2144	0.54398	0.0:0.7819:0.0:0.2181	.	720;829;874	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	I	874;743;698;874;342;720	ENSP00000416654:V743I;ENSP00000395384:V698I;ENSP00000363667:V874I;ENSP00000378304:V342I;ENSP00000262539:V720I	ENSP00000262539:V720I	V	-	1	0	PTPN3	111183797	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.603000	0.46266	0.725000	0.32318	0.555000	0.69702	GTC		0.512	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	92	0	0	0	1	0	4	92				
PBK	55872	broad.mit.edu	37	8	27668569	27668569	+	Silent	SNP	G	G	A	rs369509839		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27668569G>A	ENST00000301905.4	-	7	1141	c.678C>T	c.(676-678)gaC>gaT	p.D226D	PBK_ENST00000522944.1_Silent_p.D237D|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TGTCTGCCTTGTCAGTAATAA	0.418																																						ENST00000301905.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(676-678)gaC>gaT		PDZ binding kinase		G		0,4406		0,0,2203	133.0	112.0	119.0		678	0.6	1.0	8		119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PBK	NM_018492.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		226/323	27668569	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27668569G>A	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.678C>T	8.37:g.27668569G>A						ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Silent_p.D237D	p.D226D	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	7	1141	-		Ovarian(32;0.000953)	226			Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	c.678C>T	CCDS6063.1																																																																																				0.418	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		7	49	0	0	0	1	0	7	49				
COL20A1	57642	broad.mit.edu	37	20	61937231	61937231	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61937231A>G	ENST00000358894.6	+	5	437		c.e5-1		COL20A1_ENST00000422202.1_Splice_Site|COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTCTCCCTGCAGTTGAGGATC	0.657																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.e4-1		collagen, type XX, alpha 1							40.0	43.0	42.0					20																	61937231		1992	4168	6160	SO:0001630	splice_region_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61937231A>G	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.338-1A>G	20.37:g.61937231A>G						COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000358894.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site				Q9P218	COKA1_HUMAN			4	405	+	all_cancers(38;1.39e-10)							Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Splice_Site	SNP	ENST00000358894.6	37		CCDS46628.1	.	.	.	.	.	.	.	.	.	.	A	8.209	0.799801	0.16397	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6615	0.45704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL20A1	61407676	0.985000	0.35326	0.473000	0.27253	0.091000	0.18340	2.863000	0.48396	1.573000	0.49748	0.383000	0.25322	.		0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	Intron	11	16	0	0	0	1	0	11	16				
CACNG7	59284	broad.mit.edu	37	19	54445390	54445390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54445390G>A	ENST00000391767.1	+	6	883	c.671G>A	c.(670-672)tGc>tAc	p.C224Y	CACNG7_ENST00000222212.2_Missense_Mutation_p.C224Y			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	224				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTCAGCGACTGCTCCGACTAC	0.672																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(670-672)tGc>tAc		calcium channel, voltage-dependent, gamma subunit 7							70.0	65.0	67.0					19																	54445390		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54445390G>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.671G>A	19.37:g.54445390G>A	ENSP00000375647:p.Cys224Tyr					CACNG7_ENST00000222212.2_Missense_Mutation_p.C224Y	p.C224Y			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	6	883	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		224	GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).				Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.671G>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664648	0.67700	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.63744	-0.06;-0.06	4.18	4.18	0.49190	.	0.233911	0.43919	D	0.000502	T	0.54159	0.1841	N	0.24115	0.695	0.80722	D	1	D	0.58970	0.984	P	0.53861	0.736	T	0.52253	-0.8600	10	0.02654	T	1	-34.9255	14.3911	0.66978	0.0:0.0:1.0:0.0	.	224	P62955	CCG7_HUMAN	Y	224	ENSP00000375647:C224Y;ENSP00000222212:C224Y	ENSP00000222212:C224Y	C	+	2	0	CACNG7	59137202	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.011000	0.93618	2.072000	0.62099	0.491000	0.48974	TGC		0.672	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			6	35	0	0	0	1	0	6	35				
RIOK3	8780	broad.mit.edu	37	18	21053408	21053408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21053408G>T	ENST00000339486.3	+	8	1448	c.831G>T	c.(829-831)aaG>aaT	p.K277N	RIOK3_ENST00000577501.1_Missense_Mutation_p.K277N|RIOK3_ENST00000581585.1_Missense_Mutation_p.K261N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	277	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGATGAAAAGGAAGATAGTA	0.308																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(829-831)aaG>aaT		RIO kinase 3							41.0	40.0	40.0					18																	21053408		2203	4298	6501	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21053408G>T	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.831G>T	18.37:g.21053408G>T	ENSP00000341874:p.Lys277Asn					RIOK3_ENST00000581585.1_Missense_Mutation_p.K261N|RIOK3_ENST00000577501.1_Missense_Mutation_p.K277N	p.K277N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			8	1448	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		277			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.831G>T	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348644	0.24426	.	.	ENSG00000101782	ENST00000339486	T	0.06933	3.24	5.38	3.58	0.41010	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.297178	0.37577	N	0.002038	T	0.04497	0.0123	N	0.14661	0.345	0.33548	D	0.595816	B;B;B	0.32010	0.351;0.144;0.351	B;B;B	0.34652	0.187;0.12;0.085	T	0.34153	-0.9840	10	0.19147	T	0.46	-2.1098	5.007	0.14293	0.2354:0.0:0.5824:0.1822	.	261;277;277	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	N	277	ENSP00000341874:K277N	ENSP00000341874:K277N	K	+	3	2	RIOK3	19307406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.087000	0.41653	1.293000	0.44690	0.585000	0.79938	AAG		0.308	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		4	29	1	0	4.096e-09	1	4.95403e-09	4	29				
GPR83	10888	broad.mit.edu	37	11	94113341	94113341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94113341C>T	ENST00000243673.2	-	4	1417	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	GPR83_ENST00000539203.2_Missense_Mutation_p.V374M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	416					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.V416L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGGTTCCACAGATGACAGG	0.557																																						ENST00000243673.2																			1	Substitution - Missense(1)	p.V416L(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(1246-1248)Gtg>Atg		G protein-coupled receptor 83							56.0	59.0	58.0					11																	94113341		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113341C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1246G>A	11.37:g.94113341C>T	ENSP00000243673:p.Val416Met					GPR83_ENST00000539203.2_Missense_Mutation_p.V374M	p.V416M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1417	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	416					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.1246G>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308330	0.40895	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.65916	-0.18;-0.07	5.95	3.09	0.35607	.	0.064310	0.64402	N	0.000010	T	0.67002	0.2847	L	0.43923	1.385	0.47698	D	0.999497	D	0.69078	0.997	P	0.61533	0.89	T	0.65380	-0.6182	10	0.54805	T	0.06	.	10.69	0.45864	0.0:0.7907:0.0:0.2093	.	416	Q9NYM4	GPR83_HUMAN	M	416;374	ENSP00000243673:V416M;ENSP00000441550:V374M	ENSP00000243673:V416M	V	-	1	0	GPR83	93752989	0.991000	0.36638	0.620000	0.29132	0.124000	0.20399	2.939000	0.48995	0.423000	0.26033	0.655000	0.94253	GTG		0.557	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		7	38	0	0	0	1	0	7	38				
APOL5	80831	broad.mit.edu	37	22	36122838	36122838	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122838G>T	ENST00000249044.2	+	3	723	c.723G>T	c.(721-723)aaG>aaT	p.K241N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	241					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGGCATCAAGGATCTTCATG	0.458																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(721-723)aaG>aaT		apolipoprotein L, 5							149.0	157.0	155.0					22																	36122838		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122838G>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.723G>T	22.37:g.36122838G>T	ENSP00000249044:p.Lys241Asn						p.K241N	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	723	+			241					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.723G>T	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743642	0.30865	.	.	ENSG00000128313	ENST00000249044	T	0.03607	3.87	3.06	-1.28	0.09318	.	1.215180	0.06392	U	0.717201	T	0.04770	0.0129	L	0.47190	1.495	0.09310	N	1	B	0.31413	0.322	B	0.37422	0.249	T	0.46414	-0.9193	10	0.66056	D	0.02	.	2.118	0.03719	0.4764:0.0:0.2705:0.2531	.	241	Q9BWW9	APOL5_HUMAN	N	241	ENSP00000249044:K241N	ENSP00000249044:K241N	K	+	3	2	APOL5	34452784	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.649000	0.24843	-0.006000	0.14370	0.411000	0.27672	AAG		0.458	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		19	154	1	0	1.67942e-08	1	2.01326e-08	19	154				
MXRA8	54587	broad.mit.edu	37	1	1290239	1290239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1290239G>A	ENST00000309212.6	-	5	802	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	MXRA8_ENST00000477278.2_Missense_Mutation_p.R249C|MXRA8_ENST00000445648.2_Missense_Mutation_p.R258C|MXRA8_ENST00000342753.4_Missense_Mutation_p.R157C	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	258	Ig-like V-type 2.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTCGATACGCAGTGAGAAG	0.677																																						ENST00000309212.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7						c.(772-774)Cgt>Tgt		matrix-remodelling associated 8							21.0	24.0	23.0					1																	1290239		2193	4291	6484	SO:0001583	missense	54587					integral to membrane		g.chr1:1290239G>A	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.772C>T	1.37:g.1290239G>A	ENSP00000307887:p.Arg258Cys					MXRA8_ENST00000445648.2_Missense_Mutation_p.R258C|MXRA8_ENST00000342753.4_Missense_Mutation_p.R157C	p.R258C	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	802	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	258			Ig-like V-type 2.		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.772C>T	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.852845	0.32699	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.67171	-0.25;-0.25;-0.25	4.24	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.147120	0.06240	U	0.690227	T	0.74966	0.3786	L	0.55481	1.735	0.39452	D	0.967418	D;D;D;D;D	0.71674	0.994;0.998;0.995;0.993;0.99	P;P;P;P;P	0.57846	0.683;0.828;0.684;0.555;0.683	T	0.67082	-0.5760	10	0.37606	T	0.19	-0.53	12.5176	0.56040	0.0:0.0:0.6525:0.3475	.	249;157;236;258;258	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	C	258;249;157;258	ENSP00000307887:R258C;ENSP00000344998:R157C;ENSP00000399229:R258C	ENSP00000307887:R258C	R	-	1	0	MXRA8	1280102	0.014000	0.17966	0.979000	0.43373	0.414000	0.31173	0.357000	0.20199	0.732000	0.32470	0.298000	0.19748	CGT		0.677	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		11	8	0	0	0	1	0	11	8				
KRTAP5-1	387264	broad.mit.edu	37	11	1605655	1605655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1605655C>T	ENST00000382171.2	-	1	858	c.825G>A	c.(823-825)caG>caA	p.Q275Q	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	275						keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGATCTTGCACTGGCAGCACA	0.582																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(823-825)caG>caA		keratin associated protein 5-1							118.0	117.0	118.0					11																	1605655		2202	4299	6501	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1605655C>T	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.825G>A	11.37:g.1605655C>T						KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.Q275Q	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	858	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	275						Silent	SNP	ENST00000382171.2	37	c.825G>A	CCDS31330.1																																																																																				0.582	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		6	106	0	0	0	1	0	6	106				
VSIG2	23584	broad.mit.edu	37	11	124621457	124621457	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124621457C>A	ENST00000326621.5	-	2	181	c.81G>T	c.(79-81)aaG>aaT	p.K27N	VSIG2_ENST00000403470.1_Missense_Mutation_p.K27N	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	27	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CTGTGGGTACCTTCACCTCCA	0.657																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(79-81)aaG>aaT		V-set and immunoglobulin domain containing 2							49.0	41.0	44.0					11																	124621457		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124621457C>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.81G>T	11.37:g.124621457C>A	ENSP00000318684:p.Lys27Asn					VSIG2_ENST00000326621.5_Missense_Mutation_p.K27N	p.K27N			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	2	136	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	27			Ig-like V-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.81G>T	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666096	0.29604	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.65549	-0.16;-0.16	4.62	-1.36	0.09085	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.861395	0.09901	N	0.741105	T	0.37265	0.0997	N	0.20685	0.6	0.25492	N	0.987637	B	0.31413	0.322	B	0.28553	0.091	T	0.21143	-1.0254	10	0.38643	T	0.18	.	1.4651	0.02404	0.3066:0.3822:0.1259:0.1852	.	27	Q96IQ7	VSIG2_HUMAN	N	27	ENSP00000318684:K27N;ENSP00000385013:K27N	ENSP00000318684:K27N	K	-	3	2	VSIG2	124126667	0.994000	0.37717	0.889000	0.34880	0.034000	0.12701	0.216000	0.17585	-0.112000	0.11979	-0.122000	0.15005	AAG		0.657	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		18	31	1	0	2.94398e-08	1	3.51695e-08	18	31				
PPARGC1A	10891	broad.mit.edu	37	4	23814673	23814673	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23814673A>G	ENST00000264867.2	-	9	1988	c.1869T>C	c.(1867-1869)cgT>cgC	p.R623R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	623	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCGATCTTGAACGTGATCTCA	0.483																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1867-1869)cgT>cgC		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							206.0	182.0	191.0					4																	23814673		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23814673A>G	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1869T>C	4.37:g.23814673A>G						PPARGC1A_ENST00000509702.1_5'UTR	p.R623R	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			9	1988	-		Breast(46;0.0503)	623			Arg/Ser-rich.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1869T>C	CCDS3429.1																																																																																				0.483	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		34	68	0	0	0	1	0	34	68				
EXOC1	55763	broad.mit.edu	37	4	56759926	56759926	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56759926A>T	ENST00000381295.2	+	15	2281	c.1933A>T	c.(1933-1935)Agg>Tgg	p.R645W	EXOC1_ENST00000346134.7_Missense_Mutation_p.R645W|EXOC1_ENST00000349598.6_Missense_Mutation_p.R630W	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	645					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GACTGTCAAAAGGAACTTTGA	0.333																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1933-1935)Agg>Tgg		exocyst complex component 1							69.0	65.0	66.0					4																	56759926		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56759926A>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1933A>T	4.37:g.56759926A>T	ENSP00000370695:p.Arg645Trp					EXOC1_ENST00000346134.7_Missense_Mutation_p.R645W|EXOC1_ENST00000349598.6_Missense_Mutation_p.R630W	p.R645W	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			15	2281	+	Glioma(25;0.08)|all_neural(26;0.101)		645					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1933A>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617854	0.87359	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82214	-0.0568	9	0.62326	D	0.03	.	12.485	0.55868	0.8608:0.1392:0.0:0.0	.	630;645	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	W	645;645;630	.	ENSP00000326514:R645W	R	+	1	2	EXOC1	56454683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.963000	0.76055	2.333000	0.79357	0.533000	0.62120	AGG		0.333	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		8	51	0	0	0	1	0	8	51				
AHNAK	79026	broad.mit.edu	37	11	62285453	62285453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62285453C>T	ENST00000378024.4	-	5	16710	c.16436G>A	c.(16435-16437)gGt>gAt	p.G5479D	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5479	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTGGAAGACCTCCTCCGAC	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16435-16437)gGt>gAt		AHNAK nucleoprotein							66.0	71.0	69.0					11																	62285453		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285453C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16436G>A	11.37:g.62285453C>T	ENSP00000367263:p.Gly5479Asp					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G5479D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16710	-		Melanoma(852;0.155)	5479			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16436G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	2.017	-0.425631	0.04701	.	.	ENSG00000124942	ENST00000378024	T	0.00646	6.0	4.47	-1.67	0.08238	.	0.956174	0.08526	U	0.932772	T	0.00496	0.0016	N	0.04335	-0.225	0.09310	N	1	D	0.62365	0.991	P	0.52554	0.702	T	0.46884	-0.9159	10	0.12103	T	0.63	0.0847	3.4665	0.07552	0.1314:0.3599:0.3774:0.1314	.	5479	Q09666	AHNK_HUMAN	D	5479	ENSP00000367263:G5479D	ENSP00000367263:G5479D	G	-	2	0	AHNAK	62042029	0.000000	0.05858	0.009000	0.14445	0.042000	0.13812	0.030000	0.13688	-0.020000	0.14032	0.551000	0.68910	GGT		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		32	61	0	0	0	1	0	32	61				
COX15	1355	broad.mit.edu	37	10	101489459	101489459	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101489459C>T	ENST00000016171.5	-	2	173	c.123G>A	c.(121-123)ggG>ggA	p.G41G	COX15_ENST00000370483.5_Silent_p.G41G|CUTC_ENST00000493385.1_Intron|CUTC_ENST00000370476.5_5'Flank			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	41					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGCTGTATTGCCCTGGCCTCA	0.532																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(121-123)ggG>ggA		cytochrome c oxidase assembly homolog 15 (yeast)							84.0	81.0	82.0					10																	101489459		2203	4300	6503	SO:0001819	synonymous_variant	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101489459C>T	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.123G>A	10.37:g.101489459C>T						COX15_ENST00000016171.5_Silent_p.G41G|CUTC_ENST00000493385.1_Intron	p.G41G	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	2	173	-		Colorectal(252;0.234)	41					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Silent	SNP	ENST00000016171.5	37	c.123G>A	CCDS7482.1																																																																																				0.532	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		21	23	0	0	0	1	0	21	23				
TRAF6	7189	broad.mit.edu	37	11	36511763	36511763	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36511763C>T	ENST00000526995.1	-	7	1440	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	TRAF6_ENST00000348124.5_Silent_p.P398P|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	398	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGAGCAGTCGGTAACTGAA	0.493																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1192-1194)ccG>ccA		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							115.0	111.0	113.0					11																	36511763		2202	4298	6500	SO:0001819	synonymous_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511763C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1194G>A	11.37:g.36511763C>T						TRAF6_ENST00000348124.5_Silent_p.P398P	p.P398P	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1440	-	all_lung(20;0.211)	all_hematologic(20;0.107)	398			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	c.1194G>A	CCDS7901.1																																																																																				0.493	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		19	74	0	0	0	1	0	19	74				
ZNF44	51710	broad.mit.edu	37	19	12383872	12383872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383872T>C	ENST00000356109.5	-	5	1460	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	ZNF44_ENST00000355684.5_Missense_Mutation_p.K400E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCAAAGGCTTTCCCACATACT	0.438																																						ENST00000356109.5																			0				ovary(1)	1						c.(1342-1344)Aaa>Gaa		zinc finger protein 44							70.0	71.0	71.0					19																	12383872		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383872T>C	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1342A>G	19.37:g.12383872T>C	ENSP00000348419:p.Lys448Glu					ZNF44_ENST00000355684.5_Missense_Mutation_p.K400E	p.K448E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1460	-		Renal(1328;0.157)	448					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1342A>G	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787179	0.70337	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07567	3.18;3.18;3.18	0.997	0.997	0.19851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23492	0.0568	M	0.76170	2.325	.	.	.	D;D	0.76494	0.993;0.999	P;D	0.81914	0.901;0.995	T	0.26326	-1.0106	8	0.87932	D	0	.	7.4917	0.27466	0.0:0.0:0.0:1.0	.	448;400	P15621;F8W7T7	ZNF44_HUMAN;.	E	448;448;400;400	ENSP00000377008:K448E;ENSP00000348419:K448E;ENSP00000347910:K400E	ENSP00000347910:K400E	K	-	1	0	ZNF44	12244872	0.967000	0.33354	0.018000	0.16275	0.613000	0.37349	2.612000	0.46343	0.718000	0.32166	0.254000	0.18369	AAA		0.438	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		5	44	0	0	0	1	0	5	44				
CNNM1	26507	broad.mit.edu	37	10	101124720	101124720	+	Missense_Mutation	SNP	G	G	A	rs368836717		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101124720G>A	ENST00000356713.4	+	6	2426	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	CNNM1_ENST00000370528.3_Missense_Mutation_p.V642M|CNNM1_ENST00000370534.4_Missense_Mutation_p.V348M|CNNM1_ENST00000446890.1_Missense_Mutation_p.V642M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	713					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGATAATGACGTGCGGAAGGT	0.512																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2137-2139)Gtg>Atg		cyclin M1		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	181.0	144.0	157.0		2137	5.0	1.0	10		157	0,8600		0,0,4300	no	missense	CNNM1	NM_020348.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	713/952	101124720	1,13005	2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101124720G>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2137G>A	10.37:g.101124720G>A	ENSP00000349147:p.Val713Met					CNNM1_ENST00000370528.3_Missense_Mutation_p.V642M|CNNM1_ENST00000446890.1_Missense_Mutation_p.V642M|CNNM1_ENST00000370534.4_Missense_Mutation_p.V348M	p.V713M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	6	2426	+		Colorectal(252;0.234)	713					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2137G>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990469	0.74589	2.27E-4	0.0	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.94	5.04	0.67666	.	0.168676	0.38111	N	0.001814	T	0.48786	0.1519	M	0.61703	1.905	0.46061	D	0.99884	D;D;D;P	0.60575	0.983;0.988;0.965;0.549	P;P;P;B	0.53912	0.674;0.737;0.466;0.129	T	0.45659	-0.9246	10	0.35671	T	0.21	-18.3631	14.8964	0.70646	0.0693:0.0:0.9307:0.0	.	348;713;348;713	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	M	713;642;642;348;166	ENSP00000349147:V713M;ENSP00000406492:V642M;ENSP00000359559:V642M;ENSP00000359565:V348M	ENSP00000349147:V713M	V	+	1	0	CNNM1	101114710	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	4.249000	0.58766	1.517000	0.48917	0.563000	0.77884	GTG		0.512	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		19	19	0	0	0	1	0	19	19				
RSBN1	54665	broad.mit.edu	37	1	114308942	114308942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114308942G>A	ENST00000261441.5	-	7	2132	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	690						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCGCCGAAACTGTTTT	0.438																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(2068-2070)tCg>tTg		round spermatid basic protein 1							119.0	111.0	114.0					1																	114308942		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114308942G>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2069C>T	1.37:g.114308942G>A	ENSP00000261441:p.Ser690Leu					RSBN1_ENST00000369581.2_5'UTR	p.S690L	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2132	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	690					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.2069C>T	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419705	0.83559	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	M	0.74467	2.265	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.81300	-0.0995	9	0.87932	D	0	-7.1177	19.8965	0.96963	0.0:0.0:1.0:0.0	.	690	Q5VWQ0	RSBN1_HUMAN	L	690	.	ENSP00000261441:S690L	S	-	2	0	RSBN1	114110465	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	9.813000	0.99286	2.771000	0.95319	0.563000	0.77884	TCG		0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		45	78	0	0	0	1	0	45	78				
CNNM3	26505	broad.mit.edu	37	2	97494867	97494867	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494867G>A	ENST00000305510.3	+	7	2083	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CNNM3_ENST00000480035.1_3'UTR|ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Silent_p.A637A	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	685					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCACCACAGCGGCAGGTGAGT	0.622																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(2053-2055)gcG>gcA		cyclin M3							59.0	62.0	61.0					2																	97494867		2203	4300	6503	SO:0001819	synonymous_variant	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97494867G>A	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.2055G>A	2.37:g.97494867G>A						CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Silent_p.A637A|ANKRD23_ENST00000476975.1_Intron	p.A685A	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			7	2083	+			685					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	c.2055G>A	CCDS2025.1																																																																																				0.622	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		4	30	0	0	0	1	0	4	30				
ATM	472	broad.mit.edu	37	11	108121490	108121490	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108121490C>A	ENST00000452508.2	+	11	1487	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	ATM_ENST00000278616.4_Missense_Mutation_p.S433Y			Q13315	ATM_HUMAN	ATM serine/threonine kinase	433					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTGAGCTGTCTCCATTACTG	0.383			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1297-1299)tCt>tAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							102.0	90.0	94.0					11																	108121490		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108121490C>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1298C>A	11.37:g.108121490C>A	ENSP00000388058:p.Ser433Tyr	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.S433Y	p.S433Y	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	10	1683	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	433					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1298C>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875148	0.33162	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.01854	4.6;4.88;4.88	5.88	2.9	0.33743	Armadillo-type fold (1);	0.710985	0.13909	N	0.354351	T	0.02193	0.0068	L	0.51422	1.61	0.09310	N	1	P	0.41748	0.761	B	0.27262	0.078	T	0.47774	-0.9091	10	0.46703	T	0.11	.	8.1378	0.31064	0.0:0.6217:0.2454:0.1329	.	433	Q13315	ATM_HUMAN	Y	433	ENSP00000435747:S433Y;ENSP00000278616:S433Y;ENSP00000388058:S433Y	ENSP00000278616:S433Y	S	+	2	0	ATM	107626700	0.988000	0.35896	0.747000	0.31113	0.895000	0.52256	1.927000	0.40094	0.346000	0.23899	-0.218000	0.12543	TCT		0.383	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		14	96	1	0	0.00244969	1	0.00259885	14	96				
NCF2	4688	broad.mit.edu	37	1	183538285	183538285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183538285C>A	ENST00000367535.3	-	7	956	c.705G>T	c.(703-705)gaG>gaT	p.E235D	NCF2_ENST00000413720.1_Missense_Mutation_p.E190D|NCF2_ENST00000367536.1_Missense_Mutation_p.E235D|NCF2_ENST00000418089.1_Missense_Mutation_p.E154D	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	235					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACCTGAAGATCTCTGGGGTTT	0.478																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(568-570)gaG>gaT		neutrophil cytosolic factor 2							179.0	180.0	180.0					1																	183538285		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183538285C>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.705G>T	1.37:g.183538285C>A	ENSP00000356505:p.Glu235Asp					NCF2_ENST00000367535.3_Missense_Mutation_p.E235D|NCF2_ENST00000367536.1_Missense_Mutation_p.E235D|NCF2_ENST00000418089.1_Missense_Mutation_p.E154D	p.E190D	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			6	844	-			235					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.570G>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636114	0.47049	.	.	ENSG00000116701	ENST00000367536;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.92	2.57	0.30868	Src homology-3 domain (1);	.	.	.	.	T	0.42314	0.1197	L	0.59436	1.845	0.46823	D	0.999211	D;P;B	0.63880	0.993;0.605;0.1	D;B;B	0.70016	0.967;0.099;0.085	T	0.27806	-1.0063	9	0.33141	T	0.24	.	4.5159	0.11935	0.0:0.6028:0.0:0.3972	.	154;190;235	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	D	235;190;154;235	ENSP00000356506:E235D;ENSP00000399294:E190D;ENSP00000407217:E154D;ENSP00000356505:E235D	ENSP00000356505:E235D	E	-	3	2	NCF2	181804908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.084000	0.30828	1.167000	0.42706	0.655000	0.94253	GAG		0.478	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		9	152	1	0	1.58986e-06	1	1.84011e-06	9	152				
SPEG	10290	broad.mit.edu	37	2	220309641	220309641	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220309641G>A	ENST00000312358.7	+	3	705	c.573G>A	c.(571-573)ggG>ggA	p.G191G	SPEG_ENST00000396698.1_Silent_p.G87G|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	191					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCAGCGGGCAGACGGTCC	0.716																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(571-573)ggG>ggA		SPEG complex locus							32.0	38.0	36.0					2																	220309641		2020	4160	6180	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309641G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.573G>A	2.37:g.220309641G>A						SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.G87G	p.G191G	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	705	+		Renal(207;0.0183)	191					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.573G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	9.395	1.076488	0.20227	.	.	ENSG00000072195	ENST00000451076	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	T	0.63070	0.2480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61926	-0.6962	4	.	.	.	.	11.4961	0.50408	0.0833:0.0:0.9167:0.0	.	.	.	.	T	42	.	.	A	+	1	0	SPEG	220017885	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.235000	0.51328	2.227000	0.72691	0.442000	0.29010	GCA		0.716	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		18	28	0	0	0	1	0	18	28				
SLC25A13	10165	broad.mit.edu	37	7	95822374	95822374	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95822374G>T	ENST00000265631.5	-	6	726	c.590C>A	c.(589-591)cCt>cAt	p.P197H	SLC25A13_ENST00000542654.1_Missense_Mutation_p.P89H|SLC25A13_ENST00000416240.2_Missense_Mutation_p.P197H			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	197					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTACAAAAGGAGTCAAGAC	0.418																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(589-591)cCt>cAt		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						133.0	122.0	126.0					7																	95822374		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95822374G>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.590C>A	7.37:g.95822374G>T	ENSP00000265631:p.Pro197His					SLC25A13_ENST00000265631.5_Missense_Mutation_p.P197H|SLC25A13_ENST00000542654.1_Missense_Mutation_p.P89H	p.P197H	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		6	780	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		197					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.590C>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311310	0.95655	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79940	-1.32;-1.32;-1.32	4.99	4.99	0.66335	EF-hand-like domain (1);	0.201978	0.42294	D	0.000722	D	0.88555	0.6468	M	0.81239	2.535	0.80722	D	1	D;D;D	0.63880	0.993;0.988;0.988	P;P;P	0.58172	0.834;0.764;0.764	D	0.89040	0.3448	10	0.52906	T	0.07	-8.1705	18.8386	0.92172	0.0:0.0:1.0:0.0	.	89;197;197	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	H	197;197;89	ENSP00000265631:P197H;ENSP00000400101:P197H;ENSP00000440484:P89H	ENSP00000265631:P197H	P	-	2	0	SLC25A13	95660310	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	7.681000	0.84073	2.759000	0.94783	0.563000	0.77884	CCT		0.418	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		5	78	1	0	0.000602214	1	0.000649039	5	78				
TIE1	7075	broad.mit.edu	37	1	43784988	43784988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43784988G>A	ENST00000372476.3	+	18	3084	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R647Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1002	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTTTCTCGGGGAGAGGAG	0.572																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(3004-3006)cGg>cAg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							101.0	97.0	98.0					1																	43784988		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43784988G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3005G>A	1.37:g.43784988G>A	ENSP00000361554:p.Arg1002Gln					TIE1_ENST00000433781.2_Missense_Mutation_p.R647Q|TIE1_ENST00000473014.1_3'UTR	p.R1002Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			18	3084	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1002			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.3005G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	36	5.840494	0.97009	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.84873	-1.91;-1.91	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35349	N	0.003272	D	0.93867	0.8038	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.93912	0.7198	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	957;647;1002	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	Q	1002;405;285;647	ENSP00000361554:R1002Q;ENSP00000411728:R647Q	ENSP00000361553:R405Q	R	+	2	0	TIE1	43557575	1.000000	0.71417	0.977000	0.42913	0.855000	0.48748	9.807000	0.99171	2.837000	0.97791	0.655000	0.94253	CGG		0.572	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		35	48	0	0	0	1	0	35	48				
UTRN	7402	broad.mit.edu	37	6	144803408	144803408	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144803408T>C	ENST00000367545.3	+	26	3571	c.3571T>C	c.(3571-3573)Tta>Cta	p.L1191L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1191					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAACATCAAGTTATTAGCTGC	0.448																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(3571-3573)Tta>Cta		utrophin							133.0	131.0	132.0					6																	144803408		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144803408T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3571T>C	6.37:g.144803408T>C							p.L1191L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	26	3571	+		Ovarian(120;0.218)	1191					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.3571T>C	CCDS34547.1																																																																																				0.448	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			20	32	0	0	0	1	0	20	32				
LPAR4	2846	broad.mit.edu	37	X	78010459	78010459	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78010459C>T	ENST00000435339.3	+	2	479	c.93C>T	c.(91-93)tgC>tgT	p.C31C		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	31					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATAATACTTGCATTGTTGATG	0.403																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(91-93)tgC>tgT		lysophosphatidic acid receptor 4							283.0	234.0	251.0					X																	78010459		2203	4300	6503	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010459C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.93C>T	X.37:g.78010459C>T						RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Silent_p.C31C	p.C31C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	498	+			31					B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.93C>T	CCDS14441.1																																																																																				0.403	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		82	122	0	0	0	1	0	82	122				
PEAK1	79834	broad.mit.edu	37	15	77472047	77472047	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77472047G>T	ENST00000560626.2	-	4	2697	c.2222C>A	c.(2221-2223)cCt>cAt	p.P741H	PEAK1_ENST00000558305.1_Missense_Mutation_p.P741H|PEAK1_ENST00000312493.4_Missense_Mutation_p.P741H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	741					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTTGGCCACAGGCTCTTGAGT	0.507																																						ENST00000560626.2																			0											c.(2221-2223)cCt>cAt		pseudopodium-enriched atypical kinase 1							93.0	89.0	90.0					15																	77472047		1960	4168	6128	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472047G>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2222C>A	15.37:g.77472047G>T	ENSP00000452796:p.Pro741His					PEAK1_ENST00000558305.1_Missense_Mutation_p.P741H|PEAK1_ENST00000312493.4_Missense_Mutation_p.P741H	p.P741H			Q9H792	PEAK1_HUMAN			4	2697	-			741					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.2222C>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032036	0.75504	.	.	ENSG00000173517	ENST00000312493	T	0.68479	-0.33	5.89	4.98	0.66077	.	0.509267	0.13676	U	0.370544	T	0.59959	0.2232	N	0.19112	0.55	0.37561	D	0.919067	D	0.57257	0.979	P	0.46975	0.533	T	0.67352	-0.5692	10	0.87932	D	0	-3.6971	14.9005	0.70675	0.0684:0.0:0.9316:0.0	.	741	Q9H792	PEAK1_HUMAN	H	741	ENSP00000309230:P741H	ENSP00000309230:P741H	P	-	2	0	AC087465.1	75259102	0.992000	0.36948	0.659000	0.29680	0.799000	0.45148	5.117000	0.64667	1.500000	0.48636	0.655000	0.94253	CCT		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			40	56	1	0	1.07121e-22	1	1.41502e-22	40	56				
UGGT1	56886	broad.mit.edu	37	2	128922353	128922353	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128922353A>G	ENST00000259253.6	+	26	2922	c.2875A>G	c.(2875-2877)Aaa>Gaa	p.K959E	UGGT1_ENST00000375990.3_Missense_Mutation_p.K935E	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	959					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCGCAACCAAAAGGAGATCC	0.363																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2803-2805)Aaa>Gaa		UDP-glucose glycoprotein glucosyltransferase 1							104.0	102.0	103.0					2																	128922353		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128922353A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2875A>G	2.37:g.128922353A>G	ENSP00000259253:p.Lys959Glu					UGGT1_ENST00000259253.6_Missense_Mutation_p.K959E	p.K935E			Q9NYU2	UGGG1_HUMAN			26	3206	+			959					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2803A>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951913	0.73787	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.30448	1.53;1.53	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.74881	2.28	0.80722	D	1	P;B	0.38048	0.616;0.444	B;P	0.46144	0.343;0.505	T	0.37979	-0.9682	9	.	.	.	.	15.6269	0.76867	1.0:0.0:0.0:0.0	.	935;959	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	E	935;959	ENSP00000365158:K935E;ENSP00000259253:K959E	.	K	+	1	0	UGGT1	128638823	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	8.538000	0.90634	2.128000	0.65567	0.455000	0.32223	AAA		0.363	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		12	17	0	0	0	1	0	12	17				
G6PD	2539	broad.mit.edu	37	X	153762600	153762600	+	Silent	SNP	G	G	A	rs369516039		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153762600G>A	ENST00000393564.2	-	6	709	c.597C>T	c.(595-597)atC>atT	p.I199I	G6PD_ENST00000393562.2_Silent_p.I229I|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Silent_p.I199I	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	199					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTAGTGGTCGATGCGGTAGA	0.632																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(685-687)atC>atT		glucose-6-phosphate dehydrogenase		A	,	0,3835		0,0,0,1632,571	92.0	77.0	82.0		687,597	-3.2	0.7	X		82	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	G6PD	NM_000402.3,NM_001042351.1	,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,	229/546,199/516	153762600	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153762600G>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.597C>T	X.37:g.153762600G>A						G6PD_ENST00000369620.2_Silent_p.I199I|G6PD_ENST00000393564.2_Silent_p.I199I	p.I229I	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			6	1070	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		199					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.687C>T	CCDS44023.1																																																																																				0.632	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		22	32	0	0	0	1	0	22	32				
RMND5A	64795	broad.mit.edu	37	2	86997171	86997171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86997171C>T	ENST00000283632.4	+	7	1375	c.880C>T	c.(880-882)Cca>Tca	p.P294S	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	294										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGTGGCGCTGCCAGCTTTAAT	0.488																																						ENST00000283632.4																			0				kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						c.(880-882)Cca>Tca		required for meiotic nuclear division 5 homolog A (S. cerevisiae)							188.0	188.0	188.0					2																	86997171		2203	4300	6503	SO:0001583	missense	64795							g.chr2:86997171C>T	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.880C>T	2.37:g.86997171C>T	ENSP00000283632:p.Pro294Ser					RMND5A_ENST00000472843.1_3'UTR	p.P294S	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN			7	1375	+			294					D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.880C>T	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604278	0.96626	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.29	5.29	0.74685	Ran binding protein-like, CRA domain (1);	0.148376	0.47455	D	0.000236	T	0.82116	0.4967	M	0.83012	2.62	0.80722	D	1	D	0.54397	0.966	P	0.61132	0.884	T	0.83058	-0.0149	9	0.49607	T	0.09	-26.5806	19.3194	0.94231	0.0:1.0:0.0:0.0	.	294	Q9H871	RMD5A_HUMAN	S	294	.	ENSP00000283632:P294S	P	+	1	0	RMND5A	86850682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.662000	0.90505	0.655000	0.94253	CCA		0.488	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		14	218	0	0	0	1	0	14	218				
AMOTL2	51421	broad.mit.edu	37	3	134085261	134085261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134085261G>A	ENST00000422605.2	-	4	1216	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	AMOTL2_ENST00000513145.1_Silent_p.S350S|AMOTL2_ENST00000249883.5_Silent_p.S350S|AMOTL2_ENST00000514516.1_Silent_p.S408S|AMOTL2_ENST00000511759.1_5'Flank			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	350					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGGATTTCGCTTTCCAGCT	0.562																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1222-1224)agC>agT		angiomotin like 2							53.0	56.0	55.0					3																	134085261		2203	4300	6503	SO:0001819	synonymous_variant	51421							g.chr3:134085261G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1050C>T	3.37:g.134085261G>A						AMOTL2_ENST00000513145.1_Silent_p.S350S|AMOTL2_ENST00000249883.5_Silent_p.S350S|AMOTL2_ENST00000422605.2_Silent_p.S350S	p.S408S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			4	1402	-			350					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.1224C>T																																																																																					0.562	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		6	64	0	0	0	1	0	6	64				
LRIT1	26103	broad.mit.edu	37	10	85997350	85997350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85997350C>T	ENST00000372105.3	-	2	236	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	72						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGAACCCTGCGTATGGCCGT	0.697																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(214-216)cGc>cAc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							23.0	27.0	26.0					10																	85997350		2155	4242	6397	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85997350C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.215G>A	10.37:g.85997350C>T	ENSP00000361177:p.Arg72His						p.R72H	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			2	236	-			72					Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.215G>A	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688901	0.88735	.	.	ENSG00000148602	ENST00000372105	T	0.52754	0.65	5.46	5.46	0.80206	.	0.469429	0.21782	N	0.069190	T	0.40372	0.1114	L	0.55481	1.735	0.47037	D	0.999295	D	0.53462	0.96	B	0.33121	0.158	T	0.50457	-0.8826	10	0.54805	T	0.06	.	16.2102	0.82150	0.0:1.0:0.0:0.0	.	72	Q9P2V4	LRIT1_HUMAN	H	72	ENSP00000361177:R72H	ENSP00000361177:R72H	R	-	2	0	LRIT1	85987330	0.962000	0.33011	0.988000	0.46212	0.887000	0.51463	1.979000	0.40608	2.557000	0.86248	0.655000	0.94253	CGC		0.697	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		23	27	0	0	0	1	0	23	27				
SLC39A7	7922	broad.mit.edu	37	6	33169641	33169641	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33169641C>A	ENST00000374677.3	+	2	904	c.531C>A	c.(529-531)tcC>tcA	p.S177S	RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.S177S|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	177					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTTTTGCTTCCGGTGGGCTCC	0.488																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(529-531)tcC>tcA		solute carrier family 39 (zinc transporter), member 7							156.0	172.0	166.0					6																	33169641		1293	2554	3847	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169641C>A	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.531C>A	6.37:g.33169641C>A						SLC39A7_ENST00000374675.3_Silent_p.S177S	p.S177S	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			2	904	+			177					B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.531C>A	CCDS43453.1																																																																																				0.488	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		9	123	1	0	0.000442599	1	0.00048047	9	123				
CWC22	57703	broad.mit.edu	37	2	180851516	180851516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180851516G>A	ENST00000410053.3	-	4	411	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CWC22_ENST00000295749.6_Nonsense_Mutation_p.R38*	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	38	Arg-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CGGGGGGATCGTTCTTGTTCT	0.338																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(112-114)Cga>Tga		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							60.0	54.0	56.0					2																	180851516		1808	4082	5890	SO:0001587	stop_gained	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180851516G>A		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.112C>T	2.37:g.180851516G>A	ENSP00000387006:p.Arg38*					CWC22_ENST00000295749.6_Nonsense_Mutation_p.R38*	p.R38*	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			4	411	-			38			Arg-rich.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Nonsense_Mutation	SNP	ENST00000410053.3	37	c.112C>T	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.236388	0.58886	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	.	.	.	6.06	-1.55	0.08558	.	0.478290	0.23714	N	0.045289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2718	16.6526	0.85220	0.0:0.0:0.5757:0.4243	.	.	.	.	X	38	.	ENSP00000295749:R38X	R	-	1	2	CWC22	180559761	0.986000	0.35501	0.906000	0.35671	0.083000	0.17756	0.374000	0.20501	-0.084000	0.12595	-1.124000	0.02001	CGA		0.338	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		5	16	0	0	0	1	0	5	16				
TBL3	10607	broad.mit.edu	37	16	2026095	2026095	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2026095C>T	ENST00000568546.1	+	12	1296	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	390					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGGGGTGGCTCTTTGCCAG	0.627																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(1168-1170)Ctc>Ttc		transducin (beta)-like 3							126.0	119.0	121.0					16																	2026095		2198	4300	6498	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2026095C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1168C>T	16.37:g.2026095C>T	ENSP00000454836:p.Leu390Phe						p.L390F	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			12	1296	+			390					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.1168C>T	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392314	0.62066	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.78	3.82	0.43975	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	3.318660	0.00559	N	0.000278	T	0.68247	0.2980	L	0.39326	1.205	0.47584	D	0.999466	P;D	0.76494	0.831;0.999	P;D	0.74348	0.596;0.983	T	0.57266	-0.7841	9	0.21540	T	0.41	-16.4188	7.9492	0.30003	0.1687:0.7435:0.0:0.0878	.	152;390	A0JLS5;Q12788	.;TBL3_HUMAN	F	390	.	ENSP00000331815:L390F	L	+	1	0	TBL3	1966096	0.965000	0.33210	1.000000	0.80357	0.980000	0.70556	1.495000	0.35627	1.007000	0.39238	-0.258000	0.10820	CTC		0.627	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		36	70	0	0	0	1	0	36	70				
NUTM1	256646	broad.mit.edu	37	15	34647979	34647979	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34647979C>A	ENST00000333756.4	+	7	1841	c.1686C>A	c.(1684-1686)agC>agA	p.S562R	NUTM1_ENST00000438749.3_Missense_Mutation_p.S580R|NUTM1_ENST00000537011.1_Missense_Mutation_p.S590R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	562						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCCCAGCAGCTGGGACCTGC	0.587																																						ENST00000537011.1																			0											c.(1768-1770)agC>agA		NUT midline carcinoma, family member 1							43.0	45.0	44.0					15																	34647979		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34647979C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1686C>A	15.37:g.34647979C>A	ENSP00000329448:p.Ser562Arg					NUTM1_ENST00000438749.3_Missense_Mutation_p.S580R|NUTM1_ENST00000333756.4_Missense_Mutation_p.S562R	p.S590R							8	2152	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1770C>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806591	0.16467	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.13420	2.61;2.59;2.61	5.26	1.18	0.20946	.	0.315588	0.28176	N	0.016320	T	0.15089	0.0364	L	0.55481	1.735	0.27363	N	0.955914	B;B;P	0.52316	0.02;0.033;0.952	B;B;P	0.49752	0.018;0.04;0.621	T	0.14448	-1.0472	10	0.21014	T	0.42	.	5.6874	0.17811	0.0:0.5251:0.3038:0.1711	.	580;590;562	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	R	590;580;431;562	ENSP00000444896:S590R;ENSP00000407031:S580R;ENSP00000329448:S562R	ENSP00000329448:S562R	S	+	3	2	C15orf55	32435271	0.677000	0.27577	0.401000	0.26359	0.172000	0.22775	0.226000	0.17776	-0.033000	0.13736	-0.753000	0.03488	AGC		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		8	59	1	0	3.09899e-07	1	3.63227e-07	8	59				
HEPHL1	341208	broad.mit.edu	37	11	93826743	93826743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93826743A>G	ENST00000315765.9	+	13	2379	c.2371A>G	c.(2371-2373)Acg>Gcg	p.T791A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	791	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGGGAATATACGGATGGAGA	0.463																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2371-2373)Acg>Gcg		hephaestin-like 1							162.0	157.0	158.0					11																	93826743		1898	4134	6032	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93826743A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2371A>G	11.37:g.93826743A>G	ENSP00000313699:p.Thr791Ala						p.T791A	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			13	2379	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	791			Plastocyanin-like 5.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2371A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.022742	0.93462	.	.	ENSG00000181333	ENST00000315765	D	0.99150	-5.49	5.67	5.67	0.87782	Cupredoxin (2);	0.045313	0.85682	D	0.000000	D	0.99133	0.9701	M	0.86343	2.81	0.44432	D	0.997353	D	0.56968	0.978	P	0.56612	0.802	D	0.99243	1.0885	10	0.56958	D	0.05	-2.2046	15.915	0.79508	1.0:0.0:0.0:0.0	.	791	Q6MZM0	HPHL1_HUMAN	A	791	ENSP00000313699:T791A	ENSP00000313699:T791A	T	+	1	0	HEPHL1	93466391	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	6.580000	0.74040	2.167000	0.68274	0.443000	0.29094	ACG		0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		60	61	0	0	0	1	0	60	61				
MED13	9969	broad.mit.edu	37	17	60072628	60072628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60072628G>A	ENST00000397786.2	-	10	2142	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	689					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCTTGTTCTGCATCAGATGC	0.333																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2065-2067)gCa>gTa		mediator complex subunit 13							188.0	163.0	171.0					17																	60072628		1840	4088	5928	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60072628G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2066C>T	17.37:g.60072628G>A	ENSP00000380888:p.Ala689Val						p.A689V	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			10	2142	-			689					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2066C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116169	0.37339	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73897	-0.79	5.32	4.33	0.51752	.	0.472448	0.25400	N	0.030959	T	0.65228	0.2671	L	0.40543	1.245	0.26860	N	0.967984	B	0.12630	0.006	B	0.14023	0.01	T	0.51332	-0.8719	10	0.22706	T	0.39	-22.0891	14.8803	0.70528	0.073:0.0:0.927:0.0	.	689	Q9UHV7	MED13_HUMAN	V	689;688	ENSP00000380888:A689V	ENSP00000262436:A688V	A	-	2	0	MED13	57427410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.654000	0.46699	2.648000	0.89879	0.557000	0.71058	GCA		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		18	102	0	0	0	1	0	18	102				
SRGAP2	23380	broad.mit.edu	37	1	206632041	206632041	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632041C>T	ENST00000414007.1	+	18	2160	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	SRGAP2_ENST00000419187.2_Silent_p.S178S			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	860					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAGCAGTTCCCTGACTGACT	0.572																																						ENST00000419187.2																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(532-534)tcC>tcT		SLIT-ROBO Rho GTPase activating protein 2							26.0	29.0	28.0					1																	206632041		1992	4164	6156	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206632041C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2160C>T	1.37:g.206632041C>T						SRGAP2_ENST00000414007.1_Silent_p.S720S	p.178_178insS			O75044	FNBP2_HUMAN			19	2197	+	Breast(84;0.137)		0						Missense_Mutation	SNP	ENST00000414007.1	37	c.534C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.416610|1.416610	0.25552|0.25552	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000426388|ENST00000295713	.|.	.|.	.|.	5.82|5.82	3.94|3.94	0.45596|0.45596	.|.	.|.	.|.	.|.	.|.	T|T	0.42539|0.42539	0.1207|0.1207	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51293|0.51293	-0.8724|-0.8724	3|3	.|.	.|.	.|.	.|.	6.172|6.172	0.20422|0.20422	0.1493:0.6909:0.0:0.1598|0.1493:0.6909:0.0:0.1598	.|.	.|.	.|.	.|.	L|S	156|774	.|.	.|.	P|P	+|+	2|1	0|0	SRGAP2|SRGAP2	204698664|204698664	0.932000|0.932000	0.31603|0.31603	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.262000|0.262000	0.18460|0.18460	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.572	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		4	10	0	0	0	1	0	4	10				
FAM173B	134145	broad.mit.edu	37	5	10227731	10227731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10227731C>T	ENST00000511437.1	-	5	536	c.524G>A	c.(523-525)cGt>cAt	p.R175H	FAM173B_ENST00000510047.1_Missense_Mutation_p.R158H|FAM173B_ENST00000280330.8_Missense_Mutation_p.R11H|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	175						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CTCAAGTTCACGTTCAAGTTT	0.473																																						ENST00000280330.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(31-33)cGt>cAt		family with sequence similarity 173, member B							106.0	99.0	101.0					5																	10227731		1959	4154	6113	SO:0001583	missense	134145					integral to membrane		g.chr5:10227731C>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.524G>A	5.37:g.10227731C>T	ENSP00000422338:p.Arg175His					FAM173B_ENST00000511437.1_Missense_Mutation_p.R175H|FAM173B_ENST00000510047.1_Missense_Mutation_p.R158H|FAM173B_ENST00000510052.1_5'UTR	p.R11H			Q6P4H8	F173B_HUMAN			6	638	-			175					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.32G>A	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778010	0.49786	.	.	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.29655	2.23;1.56;1.56	4.93	3.76	0.43208	.	0.851521	0.10746	N	0.638887	T	0.36303	0.0962	L	0.55017	1.72	0.09310	N	1	P;P	0.44429	0.817;0.835	B;P	0.48368	0.198;0.575	T	0.14924	-1.0455	10	0.45353	T	0.12	-19.0953	7.2457	0.26121	0.7064:0.1502:0.0:0.1434	.	158;175	E9PBZ4;Q6P4H8	.;F173B_HUMAN	H	11;175;158	ENSP00000280330:R11H;ENSP00000422338:R175H;ENSP00000420876:R158H	ENSP00000280330:R11H	R	-	2	0	FAM173B	10280731	0.000000	0.05858	0.314000	0.25224	0.916000	0.54674	0.125000	0.15749	0.841000	0.35020	-0.272000	0.10252	CGT		0.473	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		12	23	0	0	0	1	0	12	23				
RHOJ	57381	broad.mit.edu	37	14	63747715	63747715	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63747715C>A	ENST00000316754.3	+	3	726	c.264C>A	c.(262-264)ctC>ctA	p.L88L	RHOJ_ENST00000555125.1_Silent_p.L88L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	88					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGAGGCCACTCTCCTACCCCA	0.517																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(262-264)ctC>ctA		ras homolog family member J							220.0	153.0	176.0					14																	63747715		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63747715C>A	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.264C>A	14.37:g.63747715C>A						RHOJ_ENST00000555125.1_Silent_p.L88L	p.L88L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	3	726	+			88					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.264C>A	CCDS9757.1																																																																																				0.517	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			31	40	1	0	5.60225e-13	1	7.08299e-13	31	40				
CGREF1	10669	broad.mit.edu	37	2	27327221	27327221	+	Missense_Mutation	SNP	G	G	A	rs112618911		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27327221G>A	ENST00000260595.5	-	2	306	c.14C>T	c.(13-15)aCg>aTg	p.T5M	CGREF1_ENST00000405600.1_Missense_Mutation_p.T5M|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.T127M|CGREF1_ENST00000402550.1_Missense_Mutation_p.T5M|CGREF1_ENST00000402394.1_Missense_Mutation_p.T5M|CGREF1_ENST00000312734.4_Missense_Mutation_p.T5M			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	5					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		19945	0.0		0.001	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(13-15)aCg>aTg		cell growth regulator with EF-hand domain 1		A	,MET/THR,MET/THR,MET/THR	8,4398	824.3+/-416.5	0,8,2195	67.0	59.0	62.0		,14,14,14	-7.7	0.0	2	dbSNP_132	62	19,8581	818.2+/-406.9	0,19,4281	yes	intron,missense,missense,missense	CGREF1	NM_001166241.1,NM_006569.5,NM_001166240.1,NM_001166239.1	,81,81,81	0,27,6476	AA,AG,GG		0.2209,0.1816,0.2076	,benign,benign,benign	,5/319,5/133,5/319	27327221	27,12979	2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27327221G>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.14C>T	2.37:g.27327221G>A	ENSP00000260595:p.Thr5Met					CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.T5M|CGREF1_ENST00000404694.3_Missense_Mutation_p.T127M|CGREF1_ENST00000312734.4_Missense_Mutation_p.T5M|CGREF1_ENST00000402550.1_Missense_Mutation_p.T5M|CGREF1_ENST00000405600.1_Missense_Mutation_p.T5M	p.T5M	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			2	282	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		5					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.14C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	13.42	2.230661	0.39399	0.001816	0.002209	ENSG00000138028	ENST00000402550;ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	4.73	-7.65	0.01281	.	1.833840	0.02770	N	0.119586	T	0.15652	0.0377	N	0.12182	0.205	0.09310	N	1	B;B;B	0.13145	0.002;0.002;0.007	B;B;B	0.06405	0.002;0.002;0.002	T	0.15292	-1.0442	10	0.30854	T	0.27	-10.5345	8.4971	0.33134	0.1308:0.0:0.5748:0.2945	.	127;5;5	B5MCC9;B5MCP5;Q99674	.;.;CGRE1_HUMAN	M	5;5;5;5;5;127;5	ENSP00000385452:T5M;ENSP00000386113:T5M;ENSP00000324025:T5M;ENSP00000385574:T127M;ENSP00000260595:T5M	ENSP00000260595:T5M	T	-	2	0	CGREF1	27180725	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.719000	0.04974	-2.518000	0.00499	-1.007000	0.02485	ACG		0.567	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		10	9	0	0	0	1	0	10	9				
PAQR6	79957	broad.mit.edu	37	1	156214110	156214110	+	Missense_Mutation	SNP	C	C	T	rs531768547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156214110C>T	ENST00000292291.5	-	8	1003	c.845G>A	c.(844-846)cGc>cAc	p.R282H	PAQR6_ENST00000356983.2_Missense_Mutation_p.A200T|PAQR6_ENST00000540423.1_Missense_Mutation_p.R279H|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.A200T|PAQR6_ENST00000368270.1_Missense_Mutation_p.R258H	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	282						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCAGGCTCTGCGTGATCCCAT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		20373	0.001		0.0	False		,,,				2504	0.0				GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(598-600)Gca>Aca		progestin and adipoQ receptor family member VI							20.0	20.0	20.0					1																	156214110		2203	4300	6503	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156214110C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.845G>A	1.37:g.156214110C>T	ENSP00000292291:p.Arg282His					PAQR6_ENST00000360733.2_Missense_Mutation_p.A200T|PAQR6_ENST00000292291.5_Missense_Mutation_p.R282H|PAQR6_ENST00000356983.2_Missense_Mutation_p.A200T|PAQR6_ENST00000368270.1_Missense_Mutation_p.R258H|PAQR6_ENST00000540423.1_Missense_Mutation_p.R279H|PAQR6_ENST00000492619.1_5'UTR	p.A200T	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			7	1213	-	Hepatocellular(266;0.158)		56					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.598G>A	CCDS1136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.735586|4.735586	0.89482|0.89482	.|.	.|.	ENSG00000160781|ENSG00000160781	ENST00000360733;ENST00000335852;ENST00000356983|ENST00000292291;ENST00000368271;ENST00000340183;ENST00000368270;ENST00000540423	T;T;T|T;T;T;T	0.38560|0.56611	1.13;1.13;1.13|1.61;0.45;1.21;1.6	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.057396	.|0.64402	.|N	.|0.000002	T|T	0.65417|0.65417	0.2689|0.2689	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D|D;D	0.76494|0.89917	0.999;0.999;0.996|1.0;1.0	P;P;P|D;D	0.61592|0.91635	0.834;0.891;0.742|0.999;0.999	T|T	0.68265|0.68265	-0.5454|-0.5454	9|10	0.62326|0.59425	D|D	0.03|0.04	-28.5862|-28.5862	15.1962|15.1962	0.73092|0.73092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;60;200|279;282	B4DJ42;Q7Z4Q8;Q6TCH4-2|B7Z9R9;Q6TCH4	.;.;.|.;PAQR6_HUMAN	T|H	200|282;64;301;258;279	ENSP00000353961:A200T;ENSP00000338330:A200T;ENSP00000349474:A200T|ENSP00000292291:R282H;ENSP00000341926:R301H;ENSP00000357253:R258H;ENSP00000443167:R279H	ENSP00000338330:A200T|ENSP00000292291:R282H	A|R	-|-	1|2	0|0	PAQR6|PAQR6	154480734|154480734	1.000000|1.000000	0.71417|0.71417	0.084000|0.084000	0.20598|0.20598	0.939000|0.939000	0.58152|0.58152	5.364000|5.364000	0.66110|0.66110	2.457000|2.457000	0.83068|0.83068	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.607	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		8	7	0	0	0	1	0	8	7				
NUP153	9972	broad.mit.edu	37	6	17688630	17688630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17688630C>T	ENST00000262077.2	-	2	330	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	NUP153_ENST00000537253.1_Missense_Mutation_p.E111K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	111				E -> G (in Ref. 2; BAG58514). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTTACCTTCTGTATTACTG	0.393																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(331-333)Gaa>Aaa		nucleoporin 153kDa							79.0	73.0	75.0					6																	17688630		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688630C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.331G>A	6.37:g.17688630C>T	ENSP00000262077:p.Glu111Lys					NUP153_ENST00000537253.1_Missense_Mutation_p.E111K	p.E111K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	330	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	111					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.331G>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689655	0.88735	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07688	3.19;3.17	4.95	4.95	0.65309	.	0.000000	0.47455	D	0.000229	T	0.09862	0.0242	L	0.50333	1.59	0.53688	D	0.999978	P;P;B	0.51791	0.948;0.736;0.361	P;B;B	0.50490	0.642;0.223;0.118	T	0.01626	-1.1309	10	0.72032	D	0.01	.	16.3407	0.83081	0.0:1.0:0.0:0.0	.	111;133;111	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	K	111;133;111	ENSP00000262077:E111K;ENSP00000444029:E111K	ENSP00000262077:E111K	E	-	1	0	NUP153	17796609	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.130000	0.64745	2.446000	0.82766	0.650000	0.86243	GAA		0.393	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			24	35	0	0	0	1	0	24	35				
COL27A1	85301	broad.mit.edu	37	9	116999977	116999977	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116999977C>T	ENST00000356083.3	+	19	3100	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	903	Collagen-like 5.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P903P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGGTTTCCCGGGCCCCCTG	0.617																																						ENST00000356083.3																			1	Substitution - coding silent(1)	p.P903P(1)	lung(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2707-2709)ccC>ccT		collagen, type XXVII, alpha 1							66.0	64.0	64.0					9																	116999977		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116999977C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2709C>T	9.37:g.116999977C>T							p.P903P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			19	3100	+			903			Collagen-like 5.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2709C>T	CCDS6802.1																																																																																				0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		24	23	0	0	0	1	0	24	23				
CLSTN2	64084	broad.mit.edu	37	3	140185494	140185494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140185494G>A	ENST00000458420.3	+	8	1455	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	422					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAACTGCCGCCTCGTCTTT	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1264-1266)cGc>cAc		calsyntenin 2							88.0	81.0	83.0					3																	140185494		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140185494G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1265G>A	3.37:g.140185494G>A	ENSP00000402460:p.Arg422His	HNSCC(16;0.037)					p.R422H	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			8	1455	+			422					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1265G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057120	0.76074	.	.	ENSG00000158258	ENST00000458420	T	0.02323	4.34	5.2	4.31	0.51392	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.052800	0.85682	D	0.000000	T	0.05364	0.0142	M	0.72353	2.195	0.80722	D	1	B	0.32800	0.385	B	0.29353	0.101	T	0.16012	-1.0417	10	0.72032	D	0.01	-4.9903	13.4268	0.61030	0.0:0.1585:0.8415:0.0	.	422	Q9H4D0	CSTN2_HUMAN	H	422	ENSP00000402460:R422H	ENSP00000402460:R422H	R	+	2	0	CLSTN2	141668184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	1.377000	0.46286	0.655000	0.94253	CGC		0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		28	30	0	0	0	1	0	28	30				
RCOR1	23186	broad.mit.edu	37	14	103174910	103174910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103174910C>T	ENST00000570597.1	+	6	760	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	RCOR1_ENST00000262241.6_Missense_Mutation_p.R257W			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(769-771)Cgg>Tgg		REST corepressor 1							102.0	109.0	106.0					14																	103174910		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174910C>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.760C>T	14.37:g.103174910C>T	ENSP00000459789:p.Arg254Trp					RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W	p.R257W	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	995	+			254					Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.769C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.247023	0.80024	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	4.99	0.66335	.	0.127305	0.56097	D	0.000037	T	0.56426	0.1984	L	0.59436	1.845	0.58432	D	0.999998	B	0.26809	0.16	B	0.18871	0.023	T	0.58340	-0.7653	9	0.72032	D	0.01	-18.6863	10.7992	0.46478	0.1306:0.8017:0.0:0.0677	.	254	Q9UKL0	RCOR1_HUMAN	W	254	.	ENSP00000262241:R254W	R	+	1	2	RCOR1	102244663	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.521000	0.35910	1.487000	0.48415	0.655000	0.94253	CGG		0.468	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		59	87	0	0	0	1	0	59	87				
FN1	2335	broad.mit.edu	37	2	216285518	216285518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216285518C>T	ENST00000359671.1	-	11	1818	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	FN1_ENST00000421182.1_Missense_Mutation_p.C518Y|FN1_ENST00000426059.1_Missense_Mutation_p.C518Y|FN1_ENST00000346544.3_Missense_Mutation_p.C518Y|FN1_ENST00000357009.2_Missense_Mutation_p.C518Y|FN1_ENST00000443816.1_Missense_Mutation_p.C518Y|FN1_ENST00000345488.5_Missense_Mutation_p.C518Y|FN1_ENST00000357867.4_Missense_Mutation_p.C518Y|FN1_ENST00000336916.4_Missense_Mutation_p.C518Y|FN1_ENST00000356005.4_Missense_Mutation_p.C518Y|FN1_ENST00000446046.1_Missense_Mutation_p.C518Y|FN1_ENST00000432072.2_Missense_Mutation_p.C518Y|FN1_ENST00000354785.4_Missense_Mutation_p.C518Y|FN1_ENST00000323926.6_Missense_Mutation_p.C518Y			P02751	FINC_HUMAN	fibronectin 1	518	Collagen-binding.|Fibronectin type-I 8. {ECO:0000255|PROSITE-ProRule:PRU00478}.			C -> R (in Ref. 5; CAD97791). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATCAACAATGCACTGATCTGT	0.433																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1552-1554)tGc>tAc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						152.0	122.0	132.0					2																	216285518		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216285518C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1553G>A	2.37:g.216285518C>T	ENSP00000352696:p.Cys518Tyr					FN1_ENST00000359671.1_Missense_Mutation_p.C518Y|FN1_ENST00000443816.1_Missense_Mutation_p.C518Y|FN1_ENST00000432072.2_Missense_Mutation_p.C518Y|FN1_ENST00000421182.1_Missense_Mutation_p.C518Y|FN1_ENST00000356005.4_Missense_Mutation_p.C518Y|FN1_ENST00000336916.4_Missense_Mutation_p.C518Y|FN1_ENST00000446046.1_Missense_Mutation_p.C518Y|FN1_ENST00000426059.1_Missense_Mutation_p.C518Y|FN1_ENST00000323926.6_Missense_Mutation_p.C518Y|FN1_ENST00000345488.5_Missense_Mutation_p.C518Y|FN1_ENST00000357009.2_Missense_Mutation_p.C518Y|FN1_ENST00000346544.3_Missense_Mutation_p.C518Y|FN1_ENST00000357867.4_Missense_Mutation_p.C518Y	p.C518Y			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1922	-		Renal(323;0.127)	518	C -> R (in Ref. 4; CAD97791).		Collagen-binding.|Fibronectin type-I 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1553G>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.621947	0.87460	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.84846	2.72	0.80722	D	1	D;D;D;B;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.148;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;B;D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;0.074;0.999;0.999;1.0;0.999;0.999;0.999;0.998	D	0.97903	1.0304	10	0.87932	D	0	.	19.9225	0.97093	0.0:1.0:0.0:0.0	.	518;518;518;518;518;518;518;518;518;518;518	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Y	518	ENSP00000394423:C518Y;ENSP00000323534:C518Y;ENSP00000338200:C518Y;ENSP00000350534:C518Y;ENSP00000346839:C518Y;ENSP00000352696:C518Y;ENSP00000265312:C518Y;ENSP00000273049:C518Y;ENSP00000349509:C518Y;ENSP00000410422:C518Y;ENSP00000415018:C518Y;ENSP00000399538:C518Y;ENSP00000348285:C518Y;ENSP00000398907:C518Y	ENSP00000265313:C518Y	C	-	2	0	FN1	215993763	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	TGC		0.433	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		19	32	0	0	0	1	0	19	32				
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(511-513)cGc>cAc		stomatin (EPB72)-like 2							141.0	142.0	141.0					9																	35101490		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35101490C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.512G>A	9.37:g.35101490C>T	ENSP00000348886:p.Arg171His					STOML2_ENST00000452248.2_Intron	p.R171H	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	574	-			171					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.512G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211436	0.79240	.	.	ENSG00000165283	ENST00000356493	D	0.94723	-3.5	5.26	4.34	0.51931	.	0.176889	0.46145	D	0.000309	D	0.94066	0.8098	L	0.47016	1.485	0.80722	D	1	D	0.58970	0.984	P	0.56788	0.806	D	0.93413	0.6770	10	0.62326	D	0.03	-0.8274	8.4582	0.32912	0.1551:0.7677:0.0:0.0772	.	171	Q9UJZ1	STML2_HUMAN	H	171	ENSP00000348886:R171H	ENSP00000348886:R171H	R	-	2	0	STOML2	35091490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.740000	0.55082	1.411000	0.46957	0.563000	0.77884	CGC		0.567	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		51	88	0	0	0	1	0	51	88				
SUGT1	10910	broad.mit.edu	37	13	53254206	53254206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53254206G>T	ENST00000343788.6	+	13	994	c.912G>T	c.(910-912)gaG>gaT	p.E304D	SUGT1_ENST00000535397.1_Missense_Mutation_p.E216D|SUGT1_ENST00000310528.8_Missense_Mutation_p.E272D	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	304	SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AAAAGTTGGAGGGAGATGCAG	0.338																																						ENST00000535397.1																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(646-648)gaG>gaT		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							100.0	105.0	103.0					13																	53254206		2203	4299	6502	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53254206G>T	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.912G>T	13.37:g.53254206G>T	ENSP00000367208:p.Glu304Asp					SUGT1_ENST00000310528.7_Missense_Mutation_p.E272D|SUGT1_ENST00000343788.6_Missense_Mutation_p.E304D	p.E216D			Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	13	1021	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	304			CS.		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.648G>T	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738139	0.49045	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.25579	1.82;1.79	5.39	-2.75	0.05914	SGS (2);HSP20-like chaperone (1);	0.094672	0.64402	D	0.000001	T	0.27489	0.0675	L	0.45228	1.405	0.80722	D	1	P;P;P;P	0.45827	0.819;0.867;0.867;0.839	P;P;P;P	0.58266	0.52;0.734;0.836;0.548	T	0.21895	-1.0232	10	0.15499	T	0.54	-17.648	7.3417	0.26640	0.5739:0.0:0.3117:0.1144	.	216;216;304;272	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	D	304;216;272	ENSP00000367208:E304D;ENSP00000308067:E272D	ENSP00000308067:E272D	E	+	3	2	SUGT1	52152207	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	2.677000	0.46892	-0.431000	0.07307	0.591000	0.81541	GAG		0.338	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			4	91	1	0	0.00909568	1	0.00947522	4	91				
GCM2	9247	broad.mit.edu	37	6	10874354	10874354	+	Silent	SNP	G	G	A	rs139538731	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10874354G>A	ENST00000379491.4	-	5	1542	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	465					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAACTGGCTCGTGGGGAATAG	0.572																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(1393-1395)caC>caT		glial cells missing homolog 2 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		1395	-5.8	0.0	6	dbSNP_134	55	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	GCM2	NM_004752.3		0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615		465/507	10874354	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874354G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1395C>T	6.37:g.10874354G>A						SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.H465H	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			5	1542	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	465					D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.1395C>T	CCDS4517.1																																																																																				0.572	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			9	18	0	0	0	1	0	9	18				
CDC45	8318	broad.mit.edu	37	22	19483525	19483525	+	Silent	SNP	C	C	T	rs367976893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19483525C>T	ENST00000407835.1	+	8	820	c.564C>T	c.(562-564)taC>taT	p.Y188Y	CDC45_ENST00000404724.3_Silent_p.Y142Y|CDC45_ENST00000263201.1_Silent_p.Y188Y|CDC45_ENST00000437685.2_Silent_p.Y220Y			O75419	CDC45_HUMAN	cell division cycle 45	188					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Y188Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTTTGACTACGAGCAGTATG	0.393																																						ENST00000407835.1																			1	Substitution - coding silent(1)	p.Y188Y(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(562-564)taC>taT		cell division cycle 45		C	,,	0,4406		0,0,2203	212.0	205.0	207.0		660,426,564	-3.4	1.0	22		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC45	NM_001178010.1,NM_001178011.1,NM_003504.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	220/599,142/521,188/567	19483525	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19483525C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.564C>T	22.37:g.19483525C>T						CDC45_ENST00000404724.3_Silent_p.Y142Y|CDC45_ENST00000437685.2_Silent_p.Y220Y|CDC45_ENST00000263201.1_Silent_p.Y188Y	p.Y188Y			O75419	CDC45_HUMAN			8	820	+			188					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.564C>T	CCDS13762.1																																																																																				0.393	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		15	147	0	0	0	1	0	15	147				
NDST1	3340	broad.mit.edu	37	5	149927815	149927815	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149927815G>A	ENST00000261797.6	+	12	2683	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	727	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCCTAAAGTACACCTTCC	0.612																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2179-2181)aaG>aaA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							87.0	61.0	70.0					5																	149927815		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149927815G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2181G>A	5.37:g.149927815G>A						NDST1_ENST00000523767.1_Intron	p.K727K	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	2683	+		all_hematologic(541;0.224)	727			Heparan sulfate N-sulfotransferase 1.		Q96E57	Silent	SNP	ENST00000261797.6	37	c.2181G>A	CCDS34277.1																																																																																				0.612	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		14	23	0	0	0	1	0	14	23				
KIAA1211	57482	broad.mit.edu	37	4	57181557	57181557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181557C>T	ENST00000504228.1	+	6	1994	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A623V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A630V			Q6ZU35	K1211_HUMAN	KIAA1211	630										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGAAGCACGCGGAAGCCCCA	0.706																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1888-1890)gCg>gTg		KIAA1211							11.0	15.0	14.0					4																	57181557		1882	4092	5974	SO:0001583	missense	57482							g.chr4:57181557C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1889C>T	4.37:g.57181557C>T	ENSP00000423366:p.Ala630Val					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A630V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A623V	p.A630V			Q6ZU35	K1211_HUMAN			6	1994	+	Glioma(25;0.08)|all_neural(26;0.101)		630					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1889C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	7.263	0.605628	0.14002	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02177	4.41;4.41;4.41	4.48	-8.97	0.00758	.	.	.	.	.	T	0.00754	0.0025	N	0.02916	-0.46	0.09310	N	0.999998	B;B;B	0.28178	0.08;0.202;0.004	B;B;B	0.17979	0.02;0.02;0.003	T	0.38908	-0.9639	9	0.02654	T	1	-0.3253	8.529	0.33321	0.0:0.3033:0.3482:0.3485	.	623;623;630	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	V	630;630;623;540	ENSP00000264229:A630V;ENSP00000423366:A630V;ENSP00000444006:A623V	ENSP00000264229:A630V	A	+	2	0	KIAA1211	56876314	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.160000	0.10041	-3.202000	0.00217	-2.118000	0.00350	GCG		0.706	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		6	15	0	0	0	1	0	6	15				
ABLIM1	3983	broad.mit.edu	37	10	116247761	116247761	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116247761G>A	ENST00000277895.5	-	8	1094	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	ABLIM1_ENST00000369253.2_Missense_Mutation_p.H17Y|ABLIM1_ENST00000533213.2_Missense_Mutation_p.H273Y|ABLIM1_ENST00000369252.4_Missense_Mutation_p.H273Y|ABLIM1_ENST00000369266.3_Missense_Mutation_p.H17Y|ABLIM1_ENST00000392952.3_Missense_Mutation_p.H17Y	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	333	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGTCGGGATGCCAAACGGTG	0.483																																						ENST00000533213.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(817-819)Cat>Tat		actin binding LIM protein 1							225.0	204.0	211.0					10																	116247761		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116247761G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.997C>T	10.37:g.116247761G>A	ENSP00000277895:p.His333Tyr					ABLIM1_ENST00000369266.3_Missense_Mutation_p.H17Y|ABLIM1_ENST00000392952.3_Missense_Mutation_p.H17Y|ABLIM1_ENST00000277895.5_Missense_Mutation_p.H333Y|ABLIM1_ENST00000369252.4_Missense_Mutation_p.H273Y|ABLIM1_ENST00000369253.2_Missense_Mutation_p.H17Y	p.H273Y			O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	8	1118	-		Colorectal(252;0.0373)|Breast(234;0.231)	333			LIM zinc-binding 3.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.817C>T	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000791	0.93227	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000428430	T;T;T;T;T;T;T	0.67523	1.51;-0.27;1.51;-0.22;1.47;0.05;0.54	5.81	5.81	0.92471	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.83936	0.5362	M	0.84511	2.7	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;1.0;0.988;0.999;0.999;0.995;0.994	D;D;D;D;P;D;D;D;D	0.87578	0.996;0.987;0.958;0.995;0.838;0.998;0.988;0.927;0.991	D	0.85900	0.1434	10	0.87932	D	0	.	16.9993	0.86377	0.0:0.0:1.0:0.0	.	257;17;273;273;333;17;273;257;17	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.;.;.;.;ABLM1_HUMAN;.;.;.;.	Y	333;273;17;17;273;273;333;257;17;257;257;333;17;17	ENSP00000358256:H273Y;ENSP00000376679:H17Y;ENSP00000433629:H273Y;ENSP00000358270:H17Y;ENSP00000277895:H333Y;ENSP00000358257:H17Y;ENSP00000400934:H17Y	ENSP00000277895:H333Y	H	-	1	0	ABLIM1	116237751	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.145000	0.94634	2.746000	0.94184	0.655000	0.94253	CAT		0.483	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			6	176	0	0	0	1	0	6	176				
ADAMTS8	11095	broad.mit.edu	37	11	130284492	130284492	+	Silent	SNP	C	C	T	rs375888176	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130284492C>T	ENST00000257359.6	-	5	2206	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	500	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGGCCCGCACGGCGTGCCGT	0.667													C|||	2	0.000399361	0.0	0.0	5008	,	,		17807	0.001		0.0	False		,,,				2504	0.001					ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1498-1500)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 8		C		0,4026		0,0,2013	47.0	53.0	51.0		1500	0.6	0.6	11		51	1,8339		0,1,4169	no	coding-synonymous	ADAMTS8	NM_007037.4		0,1,6182	TT,TC,CC		0.012,0.0,0.0081		500/890	130284492	1,12365	2013	4170	6183	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130284492C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1500G>A	11.37:g.130284492C>T							p.P500P	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	2206	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	500			Disintegrin.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.1500G>A	CCDS41732.1																																																																																				0.667	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		21	67	0	0	0	1	0	21	67				
RHOA	387	broad.mit.edu	37	3	49399938	49399938	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49399938C>T	ENST00000418115.1	-	4	783	c.399G>A	c.(397-399)aaG>aaA	p.K133K	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_Silent_p.K133K|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	133					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTGCTTCATCTTGGCTAGCT	0.532																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(397-399)aaG>aaA		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						151.0	137.0	142.0					3																	49399938		2203	4300	6503	SO:0001819	synonymous_variant	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49399938C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.399G>A	3.37:g.49399938C>T						RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_Silent_p.K133K	p.K133K	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	783	-			133					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	c.399G>A	CCDS2795.1																																																																																				0.532	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		31	60	0	0	0	1	0	31	60				
PCDH1	5097	broad.mit.edu	37	5	141244899	141244899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141244899C>T	ENST00000394536.3	-	3	1136	c.997G>A	c.(997-999)Gac>Aac	p.D333N	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.D311N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.D321N|PCDH1_ENST00000287008.3_Missense_Mutation_p.D333N	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCTGTCCAGTCGAAGA	0.557																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(997-999)Gac>Aac		protocadherin 1							96.0	97.0	97.0					5																	141244899		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244899C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.997G>A	5.37:g.141244899C>T	ENSP00000378043:p.Asp333Asn					PCDH1_ENST00000536585.1_Missense_Mutation_p.D311N|PCDH1_ENST00000394536.3_Missense_Mutation_p.D333N|PCDH1_ENST00000456271.1_Missense_Mutation_p.D321N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	p.D333N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1144	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	333			Cadherin 3.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.997G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	18.31	3.595542	0.66219	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	4.94	4.07	0.47477	Cadherin (5);Cadherin-like (1);	0.000000	0.49305	D	0.000156	T	0.67458	0.2895	L	0.42581	1.335	0.80722	D	1	D;P	0.65815	0.995;0.773	D;P	0.77557	0.99;0.842	T	0.62220	-0.6900	10	0.13108	T	0.6	.	11.0845	0.48078	0.0:0.9099:0.0:0.0901	.	333;333	Q08174;Q08174-2	PCDH1_HUMAN;.	N	333;333;321;344;311	ENSP00000287008:D333N;ENSP00000378043:D333N;ENSP00000403497:D321N;ENSP00000350122:D344N;ENSP00000438825:D311N	ENSP00000287008:D333N	D	-	1	0	PCDH1	141225083	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.643000	0.83403	1.320000	0.45209	0.645000	0.84053	GAC		0.557	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		21	48	0	0	0	1	0	21	48				
PPP2R3A	5523	broad.mit.edu	37	3	135806764	135806764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135806764C>T	ENST00000264977.3	+	9	3445	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A322V|RP11-305O4.3_ENST00000608883.1_RNA|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A207V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	943					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCTGGTGCAGTAACAAGG	0.318																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2827-2829)gCa>gTa		protein phosphatase 2, regulatory subunit B'', alpha							147.0	148.0	148.0					3																	135806764		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135806764C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2828C>T	3.37:g.135806764C>T	ENSP00000264977:p.Ala943Val					PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A207V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A322V	p.A943V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			9	3445	+			943					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2828C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443793	0.96187	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.48522	0.81;0.81;0.81	5.98	5.98	0.97165	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	M	0.89414	3.03	0.80722	D	1	P;P	0.51147	0.92;0.942	P;P	0.52957	0.615;0.714	T	0.74651	-0.3594	10	0.72032	D	0.01	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	322;943	Q06190-2;Q06190	.;P2R3A_HUMAN	V	943;207;322	ENSP00000264977:A943V;ENSP00000419344:A207V;ENSP00000334748:A322V	ENSP00000264977:A943V	A	+	2	0	PPP2R3A	137289454	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.565000	0.82337	2.838000	0.97847	0.591000	0.81541	GCA		0.318	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		20	52	0	0	0	1	0	20	52				
ATG4A	115201	broad.mit.edu	37	X	107381354	107381354	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107381354G>T	ENST00000372232.3	+	9	906	c.747G>T	c.(745-747)aaG>aaT	p.K249N	ATG4A_ENST00000372254.3_Missense_Mutation_p.K225N|ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000545696.1_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	249					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AGTGTTTTAAGATGCCACAGT	0.448																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(745-747)aaG>aaT		autophagy related 4A, cysteine peptidase							212.0	182.0	192.0					X																	107381354		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107381354G>T	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.747G>T	X.37:g.107381354G>T	ENSP00000361306:p.Lys249Asn					ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.K225N	p.K249N	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			9	906	+			249					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.747G>T	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.461413|2.461413	0.43736|0.43736	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000372232;ENST00000372254;ENST00000457035|ENST00000394892	T;T|.	0.45276|.	0.9;0.91|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73528|0.73528	0.3598|0.3598	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	B|.	0.16802|.	0.019|.	B|.	0.25759|.	0.063|.	T|T	0.74836|0.74836	-0.3529|-0.3529	10|5	0.29301|.	T|.	0.29|.	-11.9293|-11.9293	11.7492|11.7492	0.51839|0.51839	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	249|.	Q8WYN0|.	ATG4A_HUMAN|.	N|I	249;225;172|222	ENSP00000361306:K249N;ENSP00000361328:K225N|.	ENSP00000361306:K249N|.	K|R	+|+	3|2	2|0	ATG4A|ATG4A	107268010|107268010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.692000|6.692000	0.74578|0.74578	2.244000|2.244000	0.73946|0.73946	0.556000|0.556000	0.70494|0.70494	AAG|AGA		0.448	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		71	130	1	0	8.79861e-51	1	1.18993e-50	71	130				
DKK4	27121	broad.mit.edu	37	8	42234530	42234530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234530G>A	ENST00000220812.2	-	1	220	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	12					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAGAGCAGAGCCAGCTCAGC	0.657																																						ENST00000220812.2																			0				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(34-36)Ctc>Ttc		dickkopf WNT signaling pathway inhibitor 4							49.0	45.0	46.0					8																	42234530		2203	4300	6503	SO:0001583	missense	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42234530G>A	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.34C>T	8.37:g.42234530G>A	ENSP00000220812:p.Leu12Phe						p.L12F	NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		1	220	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	12					Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	c.34C>T	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	G	3.810	-0.039932	0.07497	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.32272	1.46	5.4	-2.79	0.05841	.	0.756066	0.11720	N	0.536040	T	0.15262	0.0368	N	0.11201	0.11	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-10.9859	12.3755	0.55277	0.2606:0.0:0.7394:0.0	.	12	Q9UBT3	DKK4_HUMAN	F	12	ENSP00000220812:L12F	ENSP00000220812:L12F	L	-	1	0	DKK4	42353687	0.058000	0.20735	0.195000	0.23364	0.233000	0.25261	-0.798000	0.04565	-0.537000	0.06290	0.563000	0.77884	CTC		0.657	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			16	22	0	0	0	1	0	16	22				
CUL7	9820	broad.mit.edu	37	6	43006088	43006088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43006088G>A	ENST00000265348.3	-	25	4775	c.4690C>T	c.(4690-4692)Cgg>Tgg	p.R1564W	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.R1648W			Q14999	CUL7_HUMAN	cullin 7	1564					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGATTCCGTCTCTTCTCC	0.572																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4942-4944)Cgg>Tgg		cullin 7							135.0	113.0	120.0					6																	43006088		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006088G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4690C>T	6.37:g.43006088G>A	ENSP00000265348:p.Arg1564Trp					CUL7_ENST00000265348.3_Missense_Mutation_p.R1564W	p.R1648W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		25	5028	-			1564					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4942C>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489818	0.84962	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.84730	-1.87;-1.89	5.62	3.6	0.41247	.	0.224729	0.44483	D	0.000460	D	0.87732	0.6251	M	0.62723	1.935	0.47621	D	0.999475	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.997;0.998	D	0.89012	0.3429	10	0.87932	D	0	-12.4289	11.498	0.50419	0.0:0.0:0.4166:0.5834	.	1648;1564;1648;1564	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1564;1648	ENSP00000265348:R1564W;ENSP00000438788:R1648W	ENSP00000265348:R1564W	R	-	1	2	CUL7	43114066	0.985000	0.35326	1.000000	0.80357	0.995000	0.86356	0.760000	0.26475	1.312000	0.45043	0.655000	0.94253	CGG		0.572	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		13	31	0	0	0	1	0	13	31				
PTPRA	5786	broad.mit.edu	37	20	3002825	3002825	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002825C>A	ENST00000216877.6	+	14	1660	c.1260C>A	c.(1258-1260)gcC>gcA	p.A420A	PTPRA_ENST00000358719.4_Silent_p.A285A|PTPRA_ENST00000380393.3_Silent_p.A429A|PTPRA_ENST00000399903.2_Silent_p.A429A|PTPRA_ENST00000425918.2_Silent_p.A440A|PTPRA_ENST00000318266.5_Silent_p.A420A|PTPRA_ENST00000356147.3_Silent_p.A420A	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	429	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTGAAGGCCTGTAACCCTC	0.587																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1258-1260)gcC>gcA		protein tyrosine phosphatase, receptor type, A							160.0	137.0	145.0					20																	3002825		2203	4300	6503	SO:0001819	synonymous_variant	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3002825C>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1260C>A	20.37:g.3002825C>A						PTPRA_ENST00000358719.4_Silent_p.A285A|PTPRA_ENST00000356147.3_Silent_p.A420A|PTPRA_ENST00000380393.3_Silent_p.A429A|PTPRA_ENST00000425918.2_Silent_p.A440A|PTPRA_ENST00000399903.2_Silent_p.A429A|PTPRA_ENST00000318266.5_Silent_p.A420A	p.A420A	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			14	1660	+			429			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	c.1260C>A	CCDS13039.1																																																																																				0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			23	49	1	0	1.85244e-09	1	2.25385e-09	23	49				
COL9A1	1297	broad.mit.edu	37	6	70944298	70944298	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70944298T>C	ENST00000357250.6	-	35	2418		c.e35-2		COL9A1_ENST00000320755.7_Splice_Site|COL9A1_ENST00000370499.4_Splice_Site|COL9A1_ENST00000489611.1_Splice_Site|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGCTCTACCCTGGGACAGAAA	0.408																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.e35-2		collagen, type IX, alpha 1							130.0	126.0	128.0					6																	70944298		2203	4300	6503	SO:0001630	splice_region_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70944298T>C		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2260-2A>G	6.37:g.70944298T>C						COL9A1_ENST00000489611.1_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site|COL9A1_ENST00000370499.4_Splice_Site|RP1-149L1.1_ENST00000522264.1_RNA		NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			35	2418	-								Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Splice_Site	SNP	ENST00000357250.6	37		CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159002	0.57368	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL9A1	71001019	1.000000	0.71417	0.999000	0.59377	0.453000	0.32348	7.859000	0.86982	2.251000	0.74343	0.528000	0.53228	.		0.408	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		Intron	7	48	0	0	0	1	0	7	48				
SLC12A2	6558	broad.mit.edu	37	5	127466827	127466827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466827G>A	ENST00000262461.2	+	5	1306	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A373T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	373					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TCTAATCTTCGCCTTTGCCAA	0.398																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1117-1119)Gcc>Acc		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						268.0	253.0	258.0					5																	127466827		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127466827G>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1117G>A	5.37:g.127466827G>A	ENSP00000262461:p.Ala373Thr					SLC12A2_ENST00000343225.4_Missense_Mutation_p.A373T	p.A373T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	5	1306	+		all_cancers(142;0.0972)|Prostate(80;0.151)	373					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1117G>A	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186906	0.78789	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98617	-5.03;-5.03	4.93	4.93	0.64822	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.99568	1.0970	10	0.52906	T	0.07	.	18.3301	0.90265	0.0:0.0:1.0:0.0	.	373;373	P55011-3;P55011	.;S12A2_HUMAN	T	373	ENSP00000262461:A373T;ENSP00000340878:A373T	ENSP00000262461:A373T	A	+	1	0	SLC12A2	127494726	1.000000	0.71417	0.988000	0.46212	0.487000	0.33371	9.263000	0.95617	2.573000	0.86826	0.563000	0.77884	GCC		0.398	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		60	98	0	0	0	1	0	60	98				
ALK	238	broad.mit.edu	37	2	29519866	29519866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29519866C>T	ENST00000389048.3	-	9	2611	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	569	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTGTTCTCCACTAGCACCAAG	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1705-1707)Gtg>Atg		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						165.0	129.0	141.0					2																	29519866		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29519866C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1705G>A	2.37:g.29519866C>T	ENSP00000373700:p.Val569Met					ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	p.V569M	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			9	2611	-	Acute lymphoblastic leukemia(172;0.155)		569			MAM 2.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1705G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759616	0.69763	.	.	ENSG00000171094	ENST00000389048	T	0.02236	4.38	5.2	4.12	0.48240	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.167110	0.27340	U	0.019811	T	0.06005	0.0156	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.51980	-0.8636	9	.	.	.	.	11.4985	0.50424	0.0:0.899:0.0:0.101	.	569	Q9UM73	ALK_HUMAN	M	569	ENSP00000373700:V569M	.	V	-	1	0	ALK	29373370	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.299000	0.43611	2.421000	0.82119	0.563000	0.77884	GTG		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	38	0	0	0	1	0	11	38				
VWA8	23078	broad.mit.edu	37	13	42293748	42293748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42293748G>A	ENST00000379310.3	-	26	3163	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I	VWA8_ENST00000281496.6_Missense_Mutation_p.T1032I	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1032						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTGCACACTGGTAGGCTTTGC	0.378																																						ENST00000379310.3																			0											c.(3094-3096)aCc>aTc		von Willebrand factor A domain containing 8							181.0	155.0	164.0					13																	42293748		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42293748G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3095C>T	13.37:g.42293748G>A	ENSP00000368612:p.Thr1032Ile					VWA8_ENST00000281496.6_Missense_Mutation_p.T1032I	p.T1032I	NM_015058.1	NP_055873.1					26	3163	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3095C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993724	0.54041	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.12465	2.87;2.68	5.5	4.63	0.57726	.	0.235974	0.42420	D	0.000706	T	0.16342	0.0393	L	0.47190	1.495	0.58432	D	0.999999	P	0.41597	0.756	B	0.41374	0.355	T	0.01739	-1.1284	10	0.39692	T	0.17	.	15.7412	0.77899	0.0:0.0:0.8623:0.1377	.	1032	A3KMH1	K0564_HUMAN	I	936;1032;1032	ENSP00000368612:T1032I;ENSP00000281496:T1032I	ENSP00000251030:T936I	T	-	2	0	KIAA0564	41191748	1.000000	0.71417	0.725000	0.30721	0.842000	0.47809	5.443000	0.66581	1.390000	0.46547	0.650000	0.86243	ACC		0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		26	46	0	0	0	1	0	26	46				
WDR35	57539	broad.mit.edu	37	2	20137546	20137546	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20137546C>A	ENST00000345530.3	-	20	2373	c.2258G>T	c.(2257-2259)aGg>aTg	p.R753M	WDR35_ENST00000416055.2_Missense_Mutation_p.R318M|WDR35_ENST00000281405.4_Missense_Mutation_p.R742M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	753					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCAAACCTGCCGAAGTA	0.448																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2257-2259)aGg>aTg		WD repeat domain 35							172.0	172.0	172.0					2																	20137546		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20137546C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2258G>T	2.37:g.20137546C>A	ENSP00000314444:p.Arg753Met					WDR35_ENST00000416055.2_Missense_Mutation_p.R318M|WDR35_ENST00000281405.4_Missense_Mutation_p.R742M	p.R753M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			20	2373	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		753					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2258G>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072581	0.76415	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.86956	-0.19;-0.18;-0.75;-2.19	5.29	3.48	0.39840	.	0.256270	0.43919	D	0.000517	D	0.91862	0.7424	M	0.82823	2.61	0.48135	D	0.999599	D;D;D;D	0.67145	0.964;0.991;0.996;0.98	P;P;P;P	0.61722	0.831;0.893;0.827;0.805	D	0.91442	0.5174	10	0.72032	D	0.01	-13.4643	10.2851	0.43562	0.0:0.7898:0.1362:0.074	.	753;742;753;318	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	M	753;742;318;288	ENSP00000314444:R753M;ENSP00000281405:R742M;ENSP00000399159:R318M;ENSP00000404409:R288M	ENSP00000281405:R742M	R	-	2	0	WDR35	20001027	1.000000	0.71417	0.988000	0.46212	0.911000	0.54048	6.052000	0.71080	0.720000	0.32209	0.591000	0.81541	AGG		0.448	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		29	99	1	0	1.7881e-09	1	2.17656e-09	29	99				
PUS10	150962	broad.mit.edu	37	2	61198657	61198657	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61198657C>T	ENST00000316752.6	-	5	765		c.e5+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AAATTACTTACCCCATTTCCT	0.368																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.e5+1		pseudouridylate synthase 10							160.0	167.0	165.0					2																	61198657		2203	4300	6503	SO:0001630	splice_region_variant	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61198657C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.503+1G>A	2.37:g.61198657C>T						PUS10_ENST00000407787.1_Splice_Site		NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		5	765	-								Q5JPJ5|Q96MI8	Splice_Site	SNP	ENST00000316752.6	37		CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510804	0.85389	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7942	0.96472	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PUS10	61052161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.326000	0.65875	2.775000	0.95449	0.650000	0.86243	.		0.368	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	Intron	55	121	0	0	0	1	0	55	121				
RETSAT	54884	broad.mit.edu	37	2	85573180	85573180	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573180G>T	ENST00000295802.4	-	6	1147	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	RETSAT_ENST00000457495.2_Silent_p.I284I|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.I345I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	345					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGGGCAATAGATGTTCACCA	0.582																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1033-1035)atC>atA		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						168.0	148.0	155.0					2																	85573180		2203	4300	6503	SO:0001819	synonymous_variant	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85573180G>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1035C>A	2.37:g.85573180G>T						RETSAT_ENST00000457495.2_Silent_p.I284I|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.I345I	p.I345I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			6	1147	-			345					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	c.1035C>A	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	G	8.467	0.856671	0.17106	.	.	ENSG00000042445	ENST00000449375	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.61862	0.2381	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59825	-0.7381	4	.	.	.	-20.7491	10.4387	0.44452	0.0885:0.0:0.9115:0.0	.	.	.	.	Y	134	.	.	S	-	2	0	RETSAT	85426691	0.997000	0.39634	0.979000	0.43373	0.733000	0.41908	1.772000	0.38552	2.612000	0.88384	0.467000	0.42956	TCT		0.582	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		50	68	1	0	3.07002e-29	1	4.10795e-29	50	68				
MED1	5469	broad.mit.edu	37	17	37563934	37563934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37563934G>A	ENST00000300651.6	-	17	4763	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		tcccggtctcggtccctatct	0.443										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4540-4542)Cga>Tga		mediator complex subunit 1							170.0	150.0	157.0					17																	37563934		2203	4300	6503	SO:0001587	stop_gained	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563934G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4540C>T	17.37:g.37563934G>A	ENSP00000300651:p.Arg1514*	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.R1514*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4763	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1514			Lys-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	ENST00000300651.6	37	c.4540C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	39	7.712872	0.98447	.	.	ENSG00000125686	ENST00000300651	.	.	.	4.42	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4438	8.6992	0.34316	0.0:0.0:0.5971:0.4029	.	.	.	.	X	1514	.	ENSP00000300651:R1514X	R	-	1	2	MED1	34817460	0.865000	0.29922	0.996000	0.52242	0.880000	0.50808	0.361000	0.20267	2.012000	0.59069	0.561000	0.74099	CGA		0.443	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		18	34	0	0	0	1	0	18	34				
GKAP1	80318	broad.mit.edu	37	9	86399660	86399660	+	Missense_Mutation	SNP	T	T	C	rs558358060		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86399660T>C	ENST00000376371.2	-	6	932	c.532A>G	c.(532-534)Aca>Gca	p.T178A	GKAP1_ENST00000376365.3_Missense_Mutation_p.T178A	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	178					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AGTGATACTGTGAGAGGTCTG	0.299																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						c.(532-534)Aca>Gca		G kinase anchoring protein 1							220.0	213.0	216.0					9																	86399660		2202	4299	6501	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86399660T>C	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.532A>G	9.37:g.86399660T>C	ENSP00000365550:p.Thr178Ala					GKAP1_ENST00000376365.3_Missense_Mutation_p.T178A	p.T178A	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN			6	932	-			178					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.532A>G	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241052	0.58995	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.15	4.0	0.46444	.	0.091297	0.85682	D	0.000000	T	0.67097	0.2857	M	0.78637	2.42	0.49051	D	0.999742	D;D	0.61697	0.971;0.99	P;P	0.54100	0.467;0.742	T	0.66264	-0.5967	9	0.34782	T	0.22	-22.7624	11.3534	0.49602	0.0:0.0:0.1524:0.8476	.	178;178	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	A	178	.	ENSP00000365544:T178A	T	-	1	0	GKAP1	85589480	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.482000	0.53186	0.781000	0.33589	0.477000	0.44152	ACA		0.299	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		13	139	0	0	0	1	0	13	139				
GRASP	160622	broad.mit.edu	37	12	52407473	52407473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52407473G>A	ENST00000293662.4	+	5	537	c.457G>A	c.(457-459)Gac>Aac	p.D153N	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Missense_Mutation_p.D10N|GRASP_ENST00000380039.2_Missense_Mutation_p.D10N	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	153	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGGCAGGGGACACCATCGC	0.537																																						ENST00000293662.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(457-459)Gac>Aac		GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein							71.0	66.0	67.0					12																	52407473		2203	4300	6503	SO:0001583	missense	160622					cell junction|perinuclear region of cytoplasm|postsynaptic membrane		g.chr12:52407473G>A	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.457G>A	12.37:g.52407473G>A	ENSP00000293662:p.Asp153Asn					GRASP_ENST00000552049.1_Missense_Mutation_p.D10N|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Missense_Mutation_p.D10N	p.D153N	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	537	+			153			PDZ.		Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	c.457G>A	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161413	0.94727	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.09	5.09	0.68999	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.89750	0.6805	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92229	0.5791	10	0.87932	D	0	-6.3135	15.529	0.75936	0.0:0.0:1.0:0.0	.	10;153	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	N	153;10;23;10	ENSP00000293662:D153N;ENSP00000449492:D10N;ENSP00000448476:D23N;ENSP00000369378:D10N	ENSP00000293662:D153N	D	+	1	0	GRASP	50693740	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.454000	0.90352	2.645000	0.89757	0.462000	0.41574	GAC		0.537	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			18	18	0	0	0	1	0	18	18				
BDP1	55814	broad.mit.edu	37	5	70798476	70798476	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70798476G>T	ENST00000358731.4	+	15	2362	c.2099G>T	c.(2098-2100)aGa>aTa	p.R700I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	700					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGCTTTAAGACCTGTACAA	0.383																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2098-2100)aGa>aTa		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							80.0	76.0	77.0					5																	70798476		1832	4086	5918	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70798476G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2099G>T	5.37:g.70798476G>T	ENSP00000351575:p.Arg700Ile					BDP1_ENST00000380675.2_5'UTR	p.R700I	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	15	2362	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	700					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.2099G>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	3.993	-0.004027	0.07773	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.09817	2.94	4.86	0.878	0.19150	.	0.468291	0.21847	N	0.068239	T	0.12774	0.0310	L	0.59436	1.845	0.22171	N	0.99931	B;B;B	0.33212	0.358;0.402;0.402	B;B;B	0.39904	0.241;0.213;0.313	T	0.16335	-1.0406	10	0.66056	D	0.02	.	6.0447	0.19753	0.2741:0.1411:0.5848:0.0	.	700;700;700	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	I	700;700;280;700	ENSP00000351575:R700I	ENSP00000351575:R700I	R	+	2	0	BDP1	70834232	0.020000	0.18652	0.012000	0.15200	0.002000	0.02628	0.595000	0.24029	-0.168000	0.10853	-1.961000	0.00478	AGA		0.383	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		11	20	1	0	9.05144e-12	1	1.1316e-11	11	20				
VRK1	7443	broad.mit.edu	37	14	97342375	97342375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97342375G>T	ENST00000216639.3	+	12	1226	c.1077G>T	c.(1075-1077)aaG>aaT	p.K359N	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	359					Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGAAGCGAAAGAAAGAAATTG	0.373																																						ENST00000216639.3																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12						c.(1075-1077)aaG>aaT		vaccinia related kinase 1							124.0	132.0	129.0					14																	97342375		2203	4300	6503	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97342375G>T	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.1077G>T	14.37:g.97342375G>T	ENSP00000216639:p.Lys359Asn					VRK1_ENST00000555067.1_3'UTR	p.K359N	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	12	1226	+		Melanoma(154;0.155)	359					Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.1077G>T	CCDS9947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719328|2.719328	0.48728|0.48728	.|.	.|.	ENSG00000100749|ENSG00000100749	ENST00000553683|ENST00000216639	.|T	.|0.22134	.|1.97	5.5|5.5	4.61|4.61	0.57282|0.57282	.|.	.|0.307026	.|0.39274	.|N	.|0.001418	.|T	.|0.17195	.|0.0413	L|L	0.32530|0.32530	0.975|0.975	0.41678|0.41678	D|D	0.989273|0.989273	.|D	.|0.56746	.|0.977	.|P	.|0.45428	.|0.48	.|T	.|0.04885	.|-1.0920	.|10	.|0.19590	.|T	.|0.45	-18.8563|-18.8563	10.2033|10.2033	0.43099|0.43099	0.0913:0.0:0.9087:0.0|0.0913:0.0:0.9087:0.0	.|.	.|359	.|Q99986	.|VRK1_HUMAN	X|N	4|359	.|ENSP00000216639:K359N	.|ENSP00000216639:K359N	E|K	+|+	1|3	0|2	VRK1|VRK1	96412128|96412128	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.845000|0.845000	0.48019|0.48019	1.326000|1.326000	0.33735|0.33735	1.327000|1.327000	0.45338|0.45338	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.373	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		13	123	1	0	0.00185496	1	0.00197886	13	123				
MAGEE1	57692	broad.mit.edu	37	X	75648782	75648782	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75648782G>A	ENST00000361470.2	+	1	737	c.459G>A	c.(457-459)ccG>ccA	p.P153P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	153	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCCGCCCACCGCCT	0.672																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(457-459)ccG>ccA		melanoma antigen family E, 1							27.0	28.0	28.0					X																	75648782		2202	4295	6497	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648782G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.459G>A	X.37:g.75648782G>A							p.P153P	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	737	+			153			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.459G>A	CCDS14433.1																																																																																				0.672	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		20	18	0	0	0	1	0	20	18				
CDH23	64072	broad.mit.edu	37	10	73544138	73544138	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73544138C>A	ENST00000224721.6	+	41	5483	c.5478C>A	c.(5476-5478)atC>atA	p.I1826I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1821	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGACCATCTGTGCCCGTG	0.637																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5476-5478)atC>atA		cadherin-related 23							62.0	68.0	66.0					10																	73544138		1979	4143	6122	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544138C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5478C>A	10.37:g.73544138C>A							p.I1826I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			41	5483	+			1821			Cadherin 17.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5478C>A																																																																																					0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		23	38	1	0	3.08376e-08	1	3.68275e-08	23	38				
RAB40A	142684	broad.mit.edu	37	X	102754930	102754930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102754930C>T	ENST00000372633.1	-	1	2873	c.755G>A	c.(754-756)aGc>aAc	p.S252N	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.S252N			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	252					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTGCAGAGGCTGCTCTTGTG	0.537																																						ENST00000372633.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(754-756)aGc>aAc		RAB40A, member RAS oncogene family							116.0	106.0	109.0					X																	102754930		2203	4300	6503	SO:0001583	missense	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102754930C>T	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.755G>A	X.37:g.102754930C>T	ENSP00000361716:p.Ser252Asn					LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.S252N	p.S252N			Q8WXH6	RB40A_HUMAN			1	2873	-			252					O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	c.755G>A	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	8.984	0.975997	0.18736	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	T;T	0.72942	-0.7;-0.7	0.225	0.225	0.15325	.	0.117120	0.33610	U	0.004733	T	0.53610	0.1807	L	0.49126	1.545	0.43761	D	0.996273	P	0.38922	0.651	B	0.32980	0.156	T	0.39800	-0.9596	10	0.23891	T	0.37	.	6.1796	0.20463	0.0:0.9996:0.0:4.0E-4	.	252	Q8WXH6	RB40A_HUMAN	N	252	ENSP00000361716:S252N;ENSP00000305648:S252N	ENSP00000305648:S252N	S	-	2	0	RAB40A	102641586	1.000000	0.71417	0.083000	0.20561	0.083000	0.17756	3.202000	0.51067	0.280000	0.22209	0.284000	0.19432	AGC		0.537	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			10	108	0	0	0	1	0	10	108				
FAM114A2	10827	broad.mit.edu	37	5	153406011	153406011	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153406011T>A	ENST00000351797.4	-	8	937	c.861A>T	c.(859-861)aaA>aaT	p.K287N	FAM114A2_ENST00000522858.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000520667.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000520313.1_Missense_Mutation_p.K217N	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	287							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AAAATGTTTCTTTGAGTTGCT	0.333																																						ENST00000351797.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(859-861)aaA>aaT		family with sequence similarity 114, member A2							48.0	48.0	48.0					5																	153406011		2202	4299	6501	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153406011T>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.861A>T	5.37:g.153406011T>A	ENSP00000341597:p.Lys287Asn					FAM114A2_ENST00000522858.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000520667.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000520313.1_Missense_Mutation_p.K217N	p.K287N	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN			8	937	-			287					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.861A>T	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700992	0.48307	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.24908	2.05;2.05;2.05;1.83	5.37	4.19	0.49359	.	0.107611	0.64402	D	0.000007	T	0.21550	0.0519	L	0.56769	1.78	0.50171	D	0.999856	B;B	0.29531	0.074;0.247	B;B	0.25405	0.03;0.06	T	0.07654	-1.0761	10	0.48119	T	0.1	-22.1894	4.7539	0.13073	0.1376:0.1553:0.0:0.7071	.	217;287	E7ESJ7;Q9NRY5	.;F1142_HUMAN	N	287;287;287;217	ENSP00000341597:K287N;ENSP00000430489:K287N;ENSP00000430384:K287N;ENSP00000429088:K217N	ENSP00000341597:K287N	K	-	3	2	FAM114A2	153386204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.702000	0.37836	0.966000	0.38159	0.533000	0.62120	AAA		0.333	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		9	14	0	0	0	1	0	9	14				
VWA1	64856	broad.mit.edu	37	1	1372468	1372468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1372468G>A	ENST00000476993.1	+	2	313	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	79	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTGCACGTGGGCAGTCGGCC	0.677																																						ENST00000476993.1																			0				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(235-237)Ggc>Agc		von Willebrand factor A domain containing 1							37.0	32.0	34.0					1																	1372468		2195	4290	6485	SO:0001583	missense	64856					basement membrane		g.chr1:1372468G>A	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.235G>A	1.37:g.1372468G>A	ENSP00000417185:p.Gly79Ser					VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	p.G79S	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	313	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	79			VWFA.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Missense_Mutation	SNP	ENST00000476993.1	37	c.235G>A	CCDS27.1	.	.	.	.	.	.	.	.	.	.	.	7.275	0.607917	0.14002	.	.	ENSG00000179403	ENST00000476993	D	0.96992	-4.2	4.14	1.2	0.21068	von Willebrand factor, type A (3);	0.128578	0.52532	U	0.000068	D	0.85622	0.5739	N	0.02674	-0.535	0.80722	D	1	P	0.36599	0.56	B	0.40659	0.336	T	0.81618	-0.0851	10	0.02654	T	1	-12.8645	6.7933	0.23711	0.5172:0.0:0.4828:0.0	.	79	Q6PCB0	VWA1_HUMAN	S	79	ENSP00000417185:G79S	ENSP00000417185:G79S	G	+	1	0	VWA1	1362331	1.000000	0.71417	0.995000	0.50966	0.564000	0.35744	2.510000	0.45468	0.159000	0.19401	-0.231000	0.12243	GGC		0.677	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		7	12	0	0	0	1	0	7	12				
GSG1	83445	broad.mit.edu	37	12	13241674	13241674	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13241674G>A	ENST00000396302.3	-	3	693	c.495C>T	c.(493-495)ggC>ggT	p.G165G	GSG1_ENST00000457134.2_Intron|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000324458.8_Intron|GSG1_ENST00000337630.6_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000351606.6_Silent_p.G201G|GSG1_ENST00000537302.1_Intron	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACACATACTTGCCACAAAGCC	0.532																																						ENST00000396302.3																			0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(493-495)ggC>ggT		germ cell associated 1							66.0	55.0	58.0					12																	13241674		2203	4300	6503	SO:0001819	synonymous_variant	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13241674G>A	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000396302.3:c.495C>T	12.37:g.13241674G>A						GSG1_ENST00000337630.6_Intron|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000324458.8_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000351606.6_Silent_p.G201G	p.G165G	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	3	693	-		Prostate(47;0.183)	0					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Silent	SNP	ENST00000396302.3	37	c.495C>T	CCDS8659.2																																																																																				0.532	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1	NM_031289		12	20	0	0	0	1	0	12	20				
ATAD5	79915	broad.mit.edu	37	17	29221637	29221637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29221637C>T	ENST00000321990.4	+	22	5731	c.5353C>T	c.(5353-5355)Ctc>Ttc	p.L1785F	TEFM_ENST00000579183.1_5'Flank	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1785					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCGATCTCTTCTCTATGTGGG	0.338																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(5353-5355)Ctc>Ttc		ATPase family, AAA domain containing 5							92.0	89.0	90.0					17																	29221637		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29221637C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5353C>T	17.37:g.29221637C>T	ENSP00000313171:p.Leu1785Phe						p.L1785F	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			22	5731	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1785					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.5353C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	9.927	1.213762	0.22289	.	.	ENSG00000176208	ENST00000321990	T	0.10288	2.89	5.59	1.3	0.21679	.	0.796636	0.11709	N	0.537123	T	0.16085	0.0387	L	0.54323	1.7	0.29820	N	0.830937	D	0.59767	0.986	P	0.55785	0.784	T	0.20706	-1.0267	10	0.59425	D	0.04	.	1.1881	0.01859	0.1485:0.3204:0.2914:0.2396	.	1785	Q96QE3	ATAD5_HUMAN	F	1785	ENSP00000313171:L1785F	ENSP00000313171:L1785F	L	+	1	0	ATAD5	26245763	0.184000	0.23200	0.982000	0.44146	0.560000	0.35617	-0.029000	0.12329	0.036000	0.15547	-0.291000	0.09656	CTC		0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		23	35	0	0	0	1	0	23	35				
PMEL	6490	broad.mit.edu	37	12	56351340	56351340	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351340G>T	ENST00000548747.1	-	6	1409	c.747C>A	c.(745-747)ggC>ggA	p.G249G	PMEL_ENST00000550447.1_Intron|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000552882.1_Silent_p.G249G|PMEL_ENST00000360714.4_Silent_p.G249G|PMEL_ENST00000548493.1_Silent_p.G249G|PMEL_ENST00000539511.1_Silent_p.G163G|PMEL_ENST00000550464.1_Silent_p.G163G|PMEL_ENST00000449260.2_Silent_p.G249G|PMEL_ENST00000536427.1_Silent_p.G249G			P40967	PMEL_HUMAN	premelanosome protein	249					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCCAGATAGCCACTGGGGT	0.567																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(745-747)ggC>ggA		premelanosome protein							115.0	117.0	116.0					12																	56351340		2203	4300	6503	SO:0001819	synonymous_variant	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351340G>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.747C>A	12.37:g.56351340G>T						PMEL_ENST00000548493.1_Silent_p.G249G|PMEL_ENST00000449260.2_Silent_p.G249G|PMEL_ENST00000360714.4_Silent_p.G249G|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Silent_p.G163G|PMEL_ENST00000552882.1_Silent_p.G249G|PMEL_ENST00000536427.1_Silent_p.G249G|PMEL_ENST00000539511.1_Silent_p.G163G	p.G249G			P40967	PMEL_HUMAN			6	1409	-			249					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	c.747C>A	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	8.708	0.911260	0.17833	.	.	ENSG00000185664	ENST00000549404	.	.	.	5.6	2.76	0.32466	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45483	-0.9258	4	.	.	.	-11.8478	6.6463	0.22936	0.2053:0.0:0.6667:0.128	.	.	.	.	I	137	.	.	L	-	1	2	PMEL	54637607	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.494000	0.35616	0.391000	0.25143	-0.150000	0.13652	CTA		0.567	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		52	86	1	0	6.3008e-33	1	8.45967e-33	52	86				
ZNF207	7756	broad.mit.edu	37	17	30694947	30694947	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30694947G>T	ENST00000321233.6	+	9	1184	c.1030G>T	c.(1030-1032)Gcg>Tcg	p.A344S	ZNF207_ENST00000342555.6_Missense_Mutation_p.A363S|ZNF207_ENST00000341711.6_Missense_Mutation_p.A261S|ZNF207_ENST00000394670.4_Missense_Mutation_p.A360S|ZNF207_ENST00000577908.1_Missense_Mutation_p.A360S|ZNF207_ENST00000394673.2_Missense_Mutation_p.A329S	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	344					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCTAAACCAGCGGCTTCAAT	0.428																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1078-1080)Gcg>Tcg		zinc finger protein 207							129.0	117.0	121.0					17																	30694947		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30694947G>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1030G>T	17.37:g.30694947G>T	ENSP00000322777:p.Ala344Ser					ZNF207_ENST00000577908.1_Missense_Mutation_p.A360S|ZNF207_ENST00000342555.6_Missense_Mutation_p.A363S|ZNF207_ENST00000321233.6_Missense_Mutation_p.A344S|ZNF207_ENST00000341711.6_Missense_Mutation_p.A261S|ZNF207_ENST00000394673.2_Missense_Mutation_p.A329S	p.A360S	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1247	+		Breast(31;0.116)|Ovarian(249;0.182)	344					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1078G>T	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983577	0.53827	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.46819	0.86;0.87	6.03	6.03	0.97812	.	0.286767	0.39341	N	0.001392	T	0.24851	0.0603	N	0.02202	-0.64	0.52099	D	0.999941	B;B;B;B;B	0.29136	0.017;0.003;0.003;0.003;0.234	B;B;B;B;B	0.32090	0.005;0.003;0.003;0.003;0.14	T	0.24404	-1.0161	10	0.13108	T	0.6	.	15.3096	0.74019	0.0:0.0:0.8601:0.1398	.	313;363;360;329;344	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	S	360;313;363;329;261;344	ENSP00000378165:A360S;ENSP00000344913:A261S	ENSP00000322777:A329S	A	+	1	0	ZNF207	27719060	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.675000	0.68123	2.868000	0.98415	0.557000	0.71058	GCG		0.428	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			6	61	1	0	0.00116845	1	0.00124821	6	61				
TNS4	84951	broad.mit.edu	37	17	38645061	38645061	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38645061G>A	ENST00000254051.6	-	3	758	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	200	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGAAGATGAGGCTCTCACTGC	0.657																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(598-600)agC>agT		tensin 4							38.0	47.0	44.0					17																	38645061		2196	4290	6486	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645061G>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.600C>T	17.37:g.38645061G>A							p.S200S	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	758	-		Breast(137;0.000496)	200			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.600C>T	CCDS11368.1																																																																																				0.657	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		26	44	0	0	0	1	0	26	44				
ZNF626	199777	broad.mit.edu	37	19	20808276	20808276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808276C>T	ENST00000601440.1	-	4	553	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTTGTCAAACATTGGTTAAG	0.328																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(406-408)tGt>tAt		zinc finger protein 626							105.0	109.0	108.0					19																	20808276		2160	4283	6443	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808276C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.407G>A	19.37:g.20808276C>T	ENSP00000469958:p.Cys136Tyr					CTC-513N18.7_ENST00000595094.1_lincRNA	p.C136Y	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	553	-			136					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.407G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	2.286	-0.363561	0.05103	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-0.35	0.12606	.	.	.	.	.	T	0.46889	0.1416	M	0.83692	2.655	0.09310	N	1	B	0.28082	0.2	B	0.33620	0.167	T	0.44345	-0.9334	8	0.26408	T	0.33	.	4.5913	0.12307	0.0:0.6963:0.0:0.3037	.	136	Q68DY1	ZN626_HUMAN	Y	136;60;136	.	ENSP00000445201:C136Y	C	-	2	0	ZNF626	20600116	0.000000	0.05858	0.018000	0.16275	0.018000	0.09664	-0.540000	0.06106	0.284000	0.22305	0.289000	0.19496	TGT		0.328	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		24	37	0	0	0	1	0	24	37				
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	327					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10						c.(979-981)cGc>cAc		alkB, alkylation repair homolog 5 (E. coli)							143.0	148.0	146.0					17																	18110257		1940	4129	6069	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18110257G>A	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.980G>A	17.37:g.18110257G>A	ENSP00000382091:p.Arg327His					ALKBH5_ENST00000541285.1_5'UTR	p.R327H	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN			3	985	+	all_neural(463;0.228)		327					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.980G>A	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320389	0.95682	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68265	-0.5454	9	0.72032	D	0.01	-20.6427	19.5182	0.95174	0.0:0.0:1.0:0.0	.	327	Q6P6C2-2	.	H	327;316;327	.	ENSP00000261650:R327H	R	+	2	0	ALKBH5	18050982	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.172000	0.89677	2.618000	0.88619	0.655000	0.94253	CGC		0.587	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		64	124	0	0	0	1	0	64	124				
SGK223	157285	broad.mit.edu	37	8	8176527	8176527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8176527C>T	ENST00000520004.1	-	6	3622	c.3358G>A	c.(3358-3360)Gtg>Atg	p.V1120M	SGK223_ENST00000330777.4_Missense_Mutation_p.V1120M			Q86YV5	SG223_HUMAN		1122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGGAAGCACACGCGCCGCTCG	0.667																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3358-3360)Gtg>Atg									86.0	95.0	92.0					8																	8176527		2106	4219	6325	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176527C>T																												ENST00000520004.1:c.3358G>A	8.37:g.8176527C>T	ENSP00000428054:p.Val1120Met					SGK223_ENST00000330777.4_Missense_Mutation_p.V1120M	p.V1120M			Q86YV5	SG223_HUMAN			6	3622	-			1120			Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3358G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124660	0.94429	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.67523	-0.27;-0.27	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81408	0.4816	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82518	-0.0417	10	0.87932	D	0	.	18.7121	0.91661	0.0:1.0:0.0:0.0	.	1120	Q86YV5	SG223_HUMAN	M	1120	ENSP00000330930:V1120M;ENSP00000428054:V1120M	ENSP00000330930:V1120M	V	-	1	0	AC068353.1	8213937	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.808000	0.62583	2.750000	0.94351	0.467000	0.42956	GTG		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			43	72	0	0	0	1	0	43	72				
FLG	2312	broad.mit.edu	37	1	152282658	152282658	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152282658G>A	ENST00000368799.1	-	3	4739	c.4704C>T	c.(4702-4704)gcC>gcT	p.A1568A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1568	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGCCGGCCCGAGTGG	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4702-4704)gcC>gcT		filaggrin							184.0	195.0	191.0					1																	152282658		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282658G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4704C>T	1.37:g.152282658G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1568A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4739	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1568			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4704C>T	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		92	143	0	0	0	1	0	92	143				
MBD5	55777	broad.mit.edu	37	2	149240918	149240918	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149240918A>G	ENST00000407073.1	+	10	3755	c.2758A>G	c.(2758-2760)Agt>Ggt	p.S920G	MBD5_ENST00000404807.1_Missense_Mutation_p.S920G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	920					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGCCTCCTCAGTTCTCTACC	0.463																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2758-2760)Agt>Ggt		methyl-CpG binding domain protein 5							231.0	227.0	229.0					2																	149240918		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149240918A>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2758A>G	2.37:g.149240918A>G	ENSP00000386049:p.Ser920Gly					MBD5_ENST00000404807.1_Missense_Mutation_p.S920G	p.S920G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	10	3755	+			920					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2758A>G	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686405	0.29962	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.47528	0.84;0.89	5.66	4.52	0.55395	.	0.159948	0.44902	D	0.000405	T	0.29817	0.0745	N	0.14661	0.345	0.39139	D	0.962007	B	0.25272	0.122	B	0.19391	0.025	T	0.19614	-1.0300	10	0.48119	T	0.1	-1.7865	11.0468	0.47863	0.9276:0.0:0.0724:0.0	.	920	Q9P267	MBD5_HUMAN	G	920	ENSP00000386049:S920G;ENSP00000384672:S920G	ENSP00000384672:S920G	S	+	1	0	MBD5	148957388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.093000	0.57714	2.158000	0.67659	0.379000	0.24179	AGT		0.463	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			13	151	0	0	0	1	0	13	151				
ADAM30	11085	broad.mit.edu	37	1	120438761	120438761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438761G>A	ENST00000369400.1	-	1	357	c.199C>T	c.(199-201)Cag>Tag	p.Q67*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTTTAACTGCAGTAGGTAG	0.542																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(199-201)Cag>Tag		ADAM metallopeptidase domain 30							86.0	79.0	81.0					1																	120438761		2203	4300	6503	SO:0001587	stop_gained	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438761G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.199C>T	1.37:g.120438761G>A	ENSP00000358407:p.Gln67*						p.Q67*	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	357	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	67					A8K8W8|Q5T3X6|Q9UKF1	Nonsense_Mutation	SNP	ENST00000369400.1	37	c.199C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245449	0.39697	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	.	.	.	4.75	0.53	0.17102	.	1.252050	0.05968	N	0.641867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	7.8727	0.29576	0.0:0.1469:0.428:0.4251	.	.	.	.	X	67	.	ENSP00000358407:Q67X	Q	-	1	0	ADAM30	120240284	0.000000	0.05858	0.019000	0.16419	0.006000	0.05464	-0.277000	0.08502	-0.048000	0.13401	-0.519000	0.04390	CAG		0.542	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		27	53	0	0	0	1	0	27	53				
PTP4A3	11156	broad.mit.edu	37	8	142435204	142435204	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142435204C>T	ENST00000521578.1	+	3	1107	c.162C>T	c.(160-162)gaC>gaT	p.D54D	PTP4A3_ENST00000349124.1_Silent_p.D54D|PTP4A3_ENST00000520105.1_Silent_p.D54D|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000329397.1_Silent_p.D54D			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	54					peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGACCTATGACAAAACGCCGC	0.672																																						ENST00000520105.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(160-162)gaC>gaT		protein tyrosine phosphatase type IVA, member 3							138.0	104.0	116.0					8																	142435204		2202	4300	6502	SO:0001819	synonymous_variant	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142435204C>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.162C>T	8.37:g.142435204C>T						PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Silent_p.D54D|PTP4A3_ENST00000329397.1_Silent_p.D54D|PTP4A3_ENST00000349124.1_Silent_p.D54D	p.D54D			O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		3	1105	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		54					Q8IVN5|Q99849|Q9BTW5	Silent	SNP	ENST00000521578.1	37	c.162C>T	CCDS6383.1																																																																																				0.672	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		4	17	0	0	0	1	0	4	17				
ZNF791	163049	broad.mit.edu	37	19	12739032	12739032	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12739032C>A	ENST00000343325.4	+	4	851	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.S198Y|ZNF791_ENST00000540038.1_Missense_Mutation_p.S121Y|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTTCCAGTTCTATTCGAGTA	0.428																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(688-690)tCt>tAt		zinc finger protein 791							61.0	59.0	59.0					19																	12739032		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739032C>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.689C>A	19.37:g.12739032C>A	ENSP00000342974:p.Ser230Tyr					ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S198Y|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.S121Y	p.S230Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	851	+			230					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.689C>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	7.371	0.626827	0.14257	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07567	3.18;3.18;3.18	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	L	0.35644	1.08	0.09310	N	1	B	0.31790	0.34	B	0.35278	0.199	T	0.37150	-0.9718	9	0.24483	T	0.36	.	9.2247	0.37398	0.0:1.0:0.0:0.0	.	230	Q3KP31	ZN791_HUMAN	Y	230;212;198;121	ENSP00000342974:S230Y;ENSP00000441761:S198Y;ENSP00000441038:S121Y	ENSP00000342974:S230Y	S	+	2	0	ZNF791	12600032	0.001000	0.12720	0.883000	0.34634	0.794000	0.44872	0.561000	0.23515	1.007000	0.39238	0.491000	0.48974	TCT		0.428	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		15	25	1	0	0.000422831	1	0.000460248	15	25				
MYCBP2	23077	broad.mit.edu	37	13	77670496	77670496	+	Missense_Mutation	SNP	C	C	T	rs539089031	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77670496C>T	ENST00000544440.2	-	57	9808	c.9791G>A	c.(9790-9792)cGc>cAc	p.R3264H	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3264H|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3302H					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTCTACAGCGATCACATAC	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		16329	0.0		0.0	False		,,,				2504	0.002					ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(9904-9906)cGc>cAc		MYC binding protein 2, E3 ubiquitin protein ligase							170.0	148.0	155.0					13																	77670496		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77670496C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9791G>A	13.37:g.77670496C>T	ENSP00000444596:p.Arg3264His					MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3264H|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3264H	p.R3302H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	10171	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3264						Missense_Mutation	SNP	ENST00000544440.2	37	c.9905G>A		.	.	.	.	.	.	.	.	.	.	C	28.9	4.959777	0.92791	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29655	1.57;1.56;1.57	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.36841	-0.9731	10	0.48119	T	0.1	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	3264	O75592	MYCB2_HUMAN	H	3264;3302;3264	ENSP00000349892:R3264H;ENSP00000384288:R3302H;ENSP00000444596:R3264H	ENSP00000349892:R3264H	R	-	2	0	MYCBP2	76568497	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.818000	0.86416	2.524000	0.85096	0.655000	0.94253	CGC		0.433	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		32	83	0	0	0	1	0	32	83				
DPY19L4	286148	broad.mit.edu	37	8	95750652	95750652	+	Missense_Mutation	SNP	A	A	G	rs375207219		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95750652A>G	ENST00000414645.2	+	4	407	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	103						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TACTCCTATTATAAAGATATG	0.249																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(307-309)tAt>tGt		dpy-19-like 4 (C. elegans)							39.0	44.0	42.0					8																	95750652		2202	4292	6494	SO:0001583	missense	286148					integral to membrane		g.chr8:95750652A>G		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.308A>G	8.37:g.95750652A>G	ENSP00000389630:p.Tyr103Cys						p.Y103C	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			4	407	+	Breast(36;3.85e-06)		103					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.308A>G	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	a	18.02	3.529026	0.64860	.	.	ENSG00000156162	ENST00000414645;ENST00000519176	T;T	0.70045	-0.45;-0.45	5.58	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.69823	2.125	0.51482	D	0.999926	D	0.89917	1.0	D	0.91635	0.999	T	0.81129	-0.1073	10	0.87932	D	0	-8.4386	12.2645	0.54670	0.8726:0.0:0.0:0.1274	.	103	Q7Z388	D19L4_HUMAN	C	103;74	ENSP00000389630:Y103C;ENSP00000430417:Y74C	ENSP00000389630:Y103C	Y	+	2	0	DPY19L4	95819828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.168000	0.58216	1.033000	0.39918	0.524000	0.50904	TAT		0.249	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		4	70	0	0	0	1	0	4	70				
HMGN1	3150	broad.mit.edu	37	21	40714987	40714987	+	3'UTR	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40714987A>G	ENST00000380749.5	-	0	636				HMGN1_ENST00000380747.1_3'UTR|snoU13_ENST00000459446.1_RNA|Y_RNA_ENST00000517106.1_RNA|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000361263.4_Missense_Mutation_p.I82T	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1						chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				ATTCCTCTGGATTGTACAAGA	0.378																																						ENST00000361263.4																			0				breast(2)|lung(1)	3						c.(244-246)aTc>aCc		high mobility group nucleosome binding domain 1							35.0	37.0	36.0					21																	40714987		2188	4275	6463	SO:0001624	3_prime_UTR_variant	3150				positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding	g.chr21:40714987A>G		CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.*51T>C	21.37:g.40714987A>G						HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380749.5_3'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000380747.1_3'UTR	p.I82T			P05114	HMGN1_HUMAN			3	926	-		Prostate(19;8.69e-07)	0					Q3KQR8	Missense_Mutation	SNP	ENST00000380749.5	37	c.245T>C	CCDS33559.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285555	0.40394	.	.	ENSG00000205581	ENST00000361263	.	.	.	4.81	4.81	0.61882	.	0.000000	0.32593	U	0.005898	T	0.75774	0.3895	.	.	.	0.32909	D	0.514224	D	0.76494	0.999	D	0.87578	0.998	D	0.83794	0.0232	8	0.66056	D	0.02	.	14.4304	0.67246	1.0:0.0:0.0:0.0	.	82	A6NGZ2	.	T	82	.	ENSP00000355293:I82T	I	-	2	0	HMGN1	39636857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.386000	0.79775	1.812000	0.52913	0.524000	0.50904	ATC		0.378	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141645.2	NM_004965		30	25	0	0	0	1	0	30	25				
CPXM1	56265	broad.mit.edu	37	20	2775939	2775939	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2775939A>C	ENST00000380605.2	-	12	1908	c.1844T>G	c.(1843-1845)cTc>cGc	p.L615R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	615					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGTAGGTGAGGAGGGCGTC	0.567																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1843-1845)cTc>cGc		carboxypeptidase X (M14 family), member 1							109.0	97.0	101.0					20																	2775939		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775939A>C	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1844T>G	20.37:g.2775939A>C	ENSP00000369979:p.Leu615Arg						p.L615R	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			12	1908	-			615					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1844T>G	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.800756	0.70567	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03831	3.79	5.4	5.4	0.78164	Peptidase M14, carboxypeptidase A (1);	0.064536	0.64402	D	0.000005	T	0.27489	0.0675	M	0.93898	3.47	0.58432	D	0.999994	D	0.71674	0.998	D	0.63488	0.915	T	0.20207	-1.0282	10	0.87932	D	0	-28.4497	13.4271	0.61032	1.0:0.0:0.0:0.0	.	615	Q96SM3	CPXM1_HUMAN	R	615;311	ENSP00000369979:L615R	ENSP00000369979:L615R	L	-	2	0	CPXM1	2723939	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.139000	0.94554	2.270000	0.75569	0.460000	0.39030	CTC		0.567	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		28	32	0	0	0	1	0	28	32				
URGCP	55665	broad.mit.edu	37	7	43916585	43916585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43916585G>T	ENST00000453200.1	-	6	2970	c.2477C>A	c.(2476-2478)tCt>tAt	p.S826Y	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.S817Y|URGCP_ENST00000223341.7_Missense_Mutation_p.S783Y|URGCP_ENST00000336086.6_Missense_Mutation_p.S783Y|URGCP_ENST00000443736.1_Missense_Mutation_p.S783Y|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.S783Y			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	826	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCGGGAACAGATACATCATG	0.532																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2347-2349)tCt>tAt		upregulator of cell proliferation							68.0	65.0	66.0					7																	43916585		1931	4139	6070	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916585G>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2477C>A	7.37:g.43916585G>T	ENSP00000396918:p.Ser826Tyr					URGCP_ENST00000447717.3_Missense_Mutation_p.S783Y|URGCP_ENST00000443736.1_Missense_Mutation_p.S783Y|URGCP_ENST00000402306.3_Missense_Mutation_p.S817Y|URGCP_ENST00000223341.7_Missense_Mutation_p.S783Y|URGCP_ENST00000453200.1_Missense_Mutation_p.S826Y|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron	p.S783Y			Q8TCY9	URGCP_HUMAN			4	4584	-			826					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.2348C>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260251	0.23051	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	5.06	4.17	0.49024	.	0.768900	0.12060	N	0.503283	T	0.20088	0.0483	M	0.62723	1.935	0.09310	N	0.999998	P;P	0.47191	0.891;0.891	P;P	0.47528	0.549;0.549	T	0.06607	-1.0817	10	0.87932	D	0	-6.5231	13.1175	0.59307	0.0:0.1738:0.8262:0.0	.	817;826	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	Y	783;783;817;783;826;783	ENSP00000223341:S783Y;ENSP00000336872:S783Y;ENSP00000384955:S817Y;ENSP00000392136:S783Y;ENSP00000396918:S826Y;ENSP00000402803:S783Y	ENSP00000223341:S783Y	S	-	2	0	URGCP	43883110	1.000000	0.71417	0.008000	0.14137	0.015000	0.08874	7.532000	0.81985	1.126000	0.42016	0.591000	0.81541	TCT		0.532	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		42	30	1	0	3.61848e-18	1	4.7115e-18	42	30				
FAM83G	644815	broad.mit.edu	37	17	18881653	18881653	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18881653G>A	ENST00000388995.6	-	5	1549	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.S442S|FAM83G_ENST00000345041.4_Silent_p.S442S			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	442					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTTCATCTGGCTGGGCTGGG	0.637																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1324-1326)agC>agT		family with sequence similarity 83, member G							20.0	25.0	23.0					17																	18881653		2111	4233	6344	SO:0001819	synonymous_variant	644815							g.chr17:18881653G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1326C>T	17.37:g.18881653G>A						FAM83G_ENST00000345041.4_Silent_p.S442S|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.S442S|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron	p.S442S			A6ND36	FA83G_HUMAN			5	1549	-			442					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.1326C>T	CCDS42276.1																																																																																				0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			3	14	0	0	0	1	0	3	14				
IL22RA1	58985	broad.mit.edu	37	1	24454689	24454689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24454689G>A	ENST00000270800.1	-	5	650	c.612C>T	c.(610-612)tgC>tgT	p.C204C		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	204	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGTGGGAACGCAAATCATGA	0.557																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(610-612)tgC>tgT		interleukin 22 receptor, alpha 1							118.0	105.0	109.0					1																	24454689		2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24454689G>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.612C>T	1.37:g.24454689G>A							p.C204C	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	5	650	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	204			Fibronectin type-III 2.		A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.612C>T	CCDS247.1																																																																																				0.557	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			26	28	0	0	0	1	0	26	28				
SCAF11	9169	broad.mit.edu	37	12	46321294	46321294	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46321294T>G	ENST00000369367.3	-	11	2423	c.2190A>C	c.(2188-2190)gaA>gaC	p.E730D	SCAF11_ENST00000549162.1_Missense_Mutation_p.E538D|SCAF11_ENST00000465950.1_Missense_Mutation_p.E415D|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.E730D	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	730					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CAACTTCAGATTCATTTTGGT	0.358																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1243-1245)gaA>gaC		SR-related CTD-associated factor 11							141.0	137.0	138.0					12																	46321294		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321294T>G	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2190A>C	12.37:g.46321294T>G	ENSP00000358374:p.Glu730Asp					SCAF11_ENST00000549162.1_Missense_Mutation_p.E538D|SCAF11_ENST00000419565.2_Missense_Mutation_p.E730D|SCAF11_ENST00000369367.3_Missense_Mutation_p.E730D	p.E415D			Q99590	SCAFB_HUMAN			1	2454	-			730					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1245A>C	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667378	0.47677	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.57107	1.22;1.96;1.22;1.96;0.42	5.93	2.33	0.28932	.	0.000000	0.64402	D	0.000002	T	0.44435	0.1293	L	0.57536	1.79	0.25571	N	0.986899	P;P	0.45474	0.859;0.779	B;B	0.41571	0.36;0.132	T	0.34625	-0.9821	10	0.42905	T	0.14	-24.5915	5.9747	0.19371	0.0:0.2057:0.127:0.6673	.	538;730	F8VXG7;Q99590	.;SCAFB_HUMAN	D	415;730;538;730;670	ENSP00000449812:E415D;ENSP00000358374:E730D;ENSP00000448864:E538D;ENSP00000413036:E730D;ENSP00000446746:E670D	ENSP00000358374:E730D	E	-	3	2	SCAF11	44607561	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	0.620000	0.24403	0.165000	0.19558	0.533000	0.62120	GAA		0.358	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		50	76	0	0	0	1	0	50	76				
TIMELESS	8914	broad.mit.edu	37	12	56826252	56826252	+	Silent	SNP	G	G	A	rs369045891		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56826252G>A	ENST00000553532.1	-	7	738	c.588C>T	c.(586-588)agC>agT	p.S196S	TIMELESS_ENST00000554616.1_Silent_p.S196S|TIMELESS_ENST00000229201.4_Silent_p.S195S					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CATCCAGGCCGCTGAGGTGAA	0.542																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(583-585)agC>agT		timeless circadian clock		G		1,4405	2.1+/-5.4	0,1,2202	110.0	103.0	106.0		588	0.3	1.0	12		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TIMELESS	NM_003920.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		196/1209	56826252	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56826252G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.588C>T	12.37:g.56826252G>A						TIMELESS_ENST00000553532.1_Silent_p.S196S|TIMELESS_ENST00000554616.1_Silent_p.S196S	p.S195S	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			7	739	-			196						Silent	SNP	ENST00000553532.1	37	c.585C>T	CCDS8918.1																																																																																				0.542	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		4	75	0	0	0	1	0	4	75				
UBR5	51366	broad.mit.edu	37	8	103288036	103288036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103288036C>T	ENST00000520539.1	-	46	7136	c.6530G>A	c.(6529-6531)gGa>gAa	p.G2177E	UBR5_ENST00000521922.1_Missense_Mutation_p.G2171E|UBR5_ENST00000518205.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.G2177E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2177					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATAACCATTCCCATAAAGCT	0.443																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6529-6531)gGa>gAa		ubiquitin protein ligase E3 component n-recognin 5							68.0	59.0	62.0					8																	103288036		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103288036C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6530G>A	8.37:g.103288036C>T	ENSP00000429084:p.Gly2177Glu					UBR5_ENST00000220959.4_Missense_Mutation_p.G2177E|UBR5_ENST00000521922.1_Missense_Mutation_p.G2171E	p.G2177E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		46	7136	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2177					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.6530G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224722	0.95173	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922;ENST00000521566	T;T;T	0.43294	0.95;0.95;0.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.43923	1.385	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.53912	0.737;0.737	T	0.52968	-0.8504	10	0.66056	D	0.02	.	19.4363	0.94796	0.0:1.0:0.0:0.0	.	2171;2177	E7EMW7;O95071	.;UBR5_HUMAN	E	2177;2177;2171;2	ENSP00000429084:G2177E;ENSP00000220959:G2177E;ENSP00000427819:G2171E	ENSP00000220959:G2177E	G	-	2	0	UBR5	103357212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.606000	0.88127	0.650000	0.86243	GGA		0.443	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		12	32	0	0	0	1	0	12	32				
OR2W3	343171	broad.mit.edu	37	1	248059544	248059544	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059544G>T	ENST00000360358.3	+	1	656	c.656G>T	c.(655-657)aGc>aTc	p.S219I	OR2W3_ENST00000537741.1_Missense_Mutation_p.S219I	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTCTTACAGCTACATTGTG	0.562																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(655-657)aGc>aTc		olfactory receptor, family 2, subfamily W, member 3							201.0	182.0	189.0					1																	248059544		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059544G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.656G>T	1.37:g.248059544G>T	ENSP00000353516:p.Ser219Ile					OR2W3_ENST00000360358.3_Missense_Mutation_p.S219I	p.S219I			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	913	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		219					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.656G>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088202	0.20390	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00058	8.79;8.79	5.29	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.406771	0.23742	N	0.045017	T	0.00109	0.0003	N	0.05351	-0.065	0.09310	N	1	B	0.14805	0.011	B	0.22152	0.038	T	0.37033	-0.9723	10	0.66056	D	0.02	.	12.846	0.57829	0.0:0.0:0.4951:0.5049	.	219	Q7Z3T1	OR2W3_HUMAN	I	219	ENSP00000445853:S219I;ENSP00000353516:S219I	ENSP00000353516:S219I	S	+	2	0	OR2W3	246126167	0.000000	0.05858	0.148000	0.22405	0.493000	0.33554	-0.181000	0.09740	1.419000	0.47118	0.609000	0.83330	AGC		0.562	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		64	82	1	0	1.11378e-47	1	1.50574e-47	64	82				
ADD2	119	broad.mit.edu	37	2	70919548	70919548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70919548G>A	ENST00000264436.4	-	7	1136	c.692C>T	c.(691-693)cCg>cTg	p.P231L	ADD2_ENST00000430656.1_Missense_Mutation_p.P247L|ADD2_ENST00000355733.3_Missense_Mutation_p.P231L|ADD2_ENST00000407644.2_Missense_Mutation_p.P231L|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.P231L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	231					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGTGGCCGGTGTGTGCAG	0.587																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(691-693)cCg>cTg		adducin 2 (beta)							57.0	52.0	54.0					2																	70919548		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70919548G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.692C>T	2.37:g.70919548G>A	ENSP00000264436:p.Pro231Leu					ADD2_ENST00000355733.3_Missense_Mutation_p.P231L|ADD2_ENST00000407644.2_Missense_Mutation_p.P231L|ADD2_ENST00000430656.1_Missense_Mutation_p.P247L|ADD2_ENST00000413157.2_Missense_Mutation_p.P231L	p.P231L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			7	1136	-			231					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.692C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692721	0.68271	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.1	5.1	0.69264	Class II aldolase/adducin, N-terminal (3);	0.057177	0.64402	D	0.000001	T	0.32971	0.0847	L	0.42581	1.335	0.80722	D	1	P;B;P;D	0.67145	0.5;0.321;0.717;0.996	B;B;B;P	0.51453	0.177;0.105;0.327;0.67	T	0.01360	-1.1375	10	0.38643	T	0.18	-18.7143	16.0541	0.80782	0.0:0.0:1.0:0.0	.	247;231;231;231	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	L	231;231;231;231;231;231;247	ENSP00000264436:P231L;ENSP00000384677:P231L;ENSP00000347972:P231L;ENSP00000388072:P231L;ENSP00000398112:P247L	ENSP00000264436:P231L	P	-	2	0	ADD2	70773056	1.000000	0.71417	0.888000	0.34837	0.891000	0.51852	9.302000	0.96175	2.636000	0.89361	0.655000	0.94253	CCG		0.587	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		3	10	0	0	0	1	0	3	10				
NBPF20	100288142	broad.mit.edu	37	1	148346581	148346581	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148346581C>A	ENST00000369202.1	-	2	373		c.e2+1		NBPF20_ENST00000414710.2_Splice_Site			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20							cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						ATAGATCTTACTGTATTTCTT	0.428																																						ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.e2+1		neuroblastoma breakpoint family, member 20							48.0	51.0	50.0					1																	148346581		1983	4158	6141	SO:0001630	splice_region_variant	100288142							g.chr1:148346581C>A		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.175+1G>T	1.37:g.148346581C>A						NBPF20_ENST00000414710.2_Splice_Site								2	373	-									Splice_Site	SNP	ENST00000369202.1	37			.	.	.	.	.	.	.	.	.	.	.	0.125	-1.120866	0.01785	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000369189;ENST00000414710	.	.	.	0.587	-0.778	0.10977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	NBPF20	146713205	0.018000	0.18449	0.003000	0.11579	0.001000	0.01503	0.117000	0.15583	-0.249000	0.09569	-0.736000	0.03550	.		0.428	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2		Intron	5	124	1	0	1.12685e-05	1	1.27857e-05	5	124				
IGLON5	402665	broad.mit.edu	37	19	51828610	51828610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51828610C>T	ENST00000270642.8	+	4	402	c.402C>T	c.(400-402)cgC>cgT	p.R134R		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	134	Ig-like C2-type 2.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						TCCCTGCCCGCATTGTGAACA	0.647																																						ENST00000270642.8																			0				large_intestine(5)|lung(6)|prostate(1)	12						c.(400-402)cgC>cgT		IgLON family member 5							30.0	34.0	33.0					19																	51828610		2104	4220	6324	SO:0001819	synonymous_variant	402665					extracellular region		g.chr19:51828610C>T		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.402C>T	19.37:g.51828610C>T							p.R134R	NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN			4	402	+			134			Ig-like C2-type 2.			Silent	SNP	ENST00000270642.8	37	c.402C>T	CCDS46158.1																																																																																				0.647	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		9	19	0	0	0	1	0	9	19				
USP28	57646	broad.mit.edu	37	11	113673879	113673879	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673879C>A	ENST00000003302.4	-	23	2931		c.e23+1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAGTACAAACCAGAAGGCAT	0.458																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e23+1		ubiquitin specific peptidase 28							71.0	78.0	76.0					11																	113673879		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113673879C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2862+1G>T	11.37:g.113673879C>A						USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site		NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	23	2931	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)						B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37		CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735017	0.89482	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1041	0.93285	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113179089	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.929000	0.75852	2.758000	0.94735	0.563000	0.77884	.		0.458	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Intron	25	87	1	0	6.32553e-13	1	7.99037e-13	25	87				
CACNA1D	776	broad.mit.edu	37	3	53844311	53844311	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53844311A>G	ENST00000350061.5	+	47	6689	c.6178A>G	c.(6178-6180)Agc>Ggc	p.S2060G	CACNA1D_ENST00000288139.4_Missense_Mutation_p.S2080G|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S2036G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2060					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGTGCGGACAGCTTGGTGGA	0.597																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(6238-6240)Agc>Ggc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						59.0	65.0	63.0					3																	53844311		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53844311A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6178A>G	3.37:g.53844311A>G	ENSP00000288133:p.Ser2060Gly					CACNA1D_ENST00000350061.5_Missense_Mutation_p.S2060G|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S2036G	p.S2080G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	48	6356	+			2060					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.6238A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538698	0.65085	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.75264	2.295	0.80722	D	1	D;P;D;D	0.76494	0.999;0.948;0.998;0.999	D;P;D;D	0.75484	0.986;0.49;0.952;0.972	D	0.83441	0.0043	10	0.87932	D	0	.	14.4622	0.67459	1.0:0.0:0.0:0.0	.	2036;1753;2060;2080	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	G	2060;2080;2036;1753	ENSP00000288133:S2060G;ENSP00000288139:S2080G;ENSP00000409174:S2036G;ENSP00000418014:S1753G	ENSP00000288139:S2080G	S	+	1	0	CACNA1D	53819351	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.887000	0.92456	2.221000	0.72209	0.455000	0.32223	AGC		0.597	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		4	54	0	0	0	1	0	4	54				
KIAA0226	9711	broad.mit.edu	37	3	197402330	197402330	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197402330G>T	ENST00000296343.5	-	19	2702	c.2703C>A	c.(2701-2703)atC>atA	p.I901I	MIR922_ENST00000401223.1_RNA|KIAA0226_ENST00000273582.5_Silent_p.I856I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	901	Cys-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CAAAGGGAAAGATGATGTCAT	0.537																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2566-2568)atC>atA		KIAA0226							175.0	172.0	173.0					3																	197402330		2046	4202	6248	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197402330G>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2703C>A	3.37:g.197402330G>T						KIAA0226_ENST00000296343.5_Silent_p.I901I	p.I856I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	20	3113	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		901					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.2568C>A	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270145	0.23221	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.51	4.44	0.53790	.	.	.	.	.	T	0.70824	0.3268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69632	-0.5093	4	.	.	.	.	15.1983	0.73112	0.0791:0.0:0.9209:0.0	.	.	.	.	I	863	.	.	L	-	1	0	KIAA0226	198886727	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.585000	0.67497	2.591000	0.87537	0.591000	0.81541	CTT		0.537	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		15	163	1	0	0.000566183	1	0.000614449	15	163				
DST	667	broad.mit.edu	37	6	56382357	56382357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56382357G>T	ENST00000361203.3	-	65	17238	c.17231C>A	c.(17230-17232)tCt>tAt	p.S5744Y	DST_ENST00000244364.6_Missense_Mutation_p.S3441Y|DST_ENST00000370769.4_Missense_Mutation_p.S5855Y|DST_ENST00000446842.2_Missense_Mutation_p.S5529Y|DST_ENST00000421834.2_Missense_Mutation_p.S3767Y|DST_ENST00000370788.2_Missense_Mutation_p.S3658Y|DST_ENST00000370754.5_Missense_Mutation_p.S6033Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5744					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCACCCAGAGACATCAATTT	0.388																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18097-18099)tCt>tAt		dystonin							74.0	67.0	69.0					6																	56382357		1867	4089	5956	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56382357G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17231C>A	6.37:g.56382357G>T	ENSP00000354508:p.Ser5744Tyr					DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.S5855Y|DST_ENST00000421834.2_Missense_Mutation_p.S3767Y|DST_ENST00000370788.2_Missense_Mutation_p.S3658Y|DST_ENST00000244364.6_Missense_Mutation_p.S3441Y|DST_ENST00000361203.3_Missense_Mutation_p.S5744Y|DST_ENST00000446842.2_Missense_Mutation_p.S5529Y|DST_ENST00000340834.4_5'UTR	p.S6033Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		70	18097	-	Lung NSC(77;0.103)		5853					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.18098C>A		.	.	.	.	.	.	.	.	.	.	G	19.19	3.779969	0.70222	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000079	T	0.59702	0.2213	M	0.66939	2.045	0.34645	D	0.721075	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998	D;D;D;D;D	0.91635	0.999;0.997;0.995;0.983;0.964	T	0.61564	-0.7037	9	0.72032	D	0.01	.	19.6214	0.95658	0.0:0.0:1.0:0.0	.	3767;5855;6033;5853;3441	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Y	3441;6033;5855;3767;5529;3658;5744	ENSP00000244364:S3441Y;ENSP00000359790:S6033Y;ENSP00000359805:S5855Y;ENSP00000400883:S3767Y;ENSP00000393645:S5529Y;ENSP00000359824:S3658Y;ENSP00000354508:S5744Y	ENSP00000244364:S3441Y	S	-	2	0	DST	56490316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.593000	0.82686	2.706000	0.92434	0.650000	0.86243	TCT		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		9	17	1	0	1.76689e-08	1	2.11513e-08	9	17				
RALBP1	10928	broad.mit.edu	37	18	9533376	9533376	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9533376A>T	ENST00000019317.4	+	8	1722	c.1499A>T	c.(1498-1500)gAg>gTg	p.E500V	RALBP1_ENST00000383432.3_Missense_Mutation_p.E500V			Q15311	RBP1_HUMAN	ralA binding protein 1	500					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	CTGGCCATGGAGCAGTTTCTG	0.473																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(1498-1500)gAg>gTg		ralA binding protein 1							57.0	61.0	60.0					18																	9533376		2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9533376A>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1499A>T	18.37:g.9533376A>T	ENSP00000019317:p.Glu500Val					RALBP1_ENST00000383432.3_Missense_Mutation_p.E500V	p.E500V			Q15311	RBP1_HUMAN			8	1722	+			500					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.1499A>T	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474069	0.84640	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.11712	2.75;2.75	4.21	4.21	0.49690	.	0.101702	0.64402	D	0.000003	T	0.13798	0.0334	L	0.36672	1.1	0.80722	D	1	P	0.48834	0.916	P	0.47603	0.551	T	0.01920	-1.1247	10	0.72032	D	0.01	-0.4639	13.7601	0.62961	1.0:0.0:0.0:0.0	.	500	Q15311	RBP1_HUMAN	V	500	ENSP00000019317:E500V;ENSP00000372924:E500V	ENSP00000019317:E500V	E	+	2	0	RALBP1	9523376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.947000	0.93000	1.893000	0.54813	0.459000	0.35465	GAG		0.473	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		4	46	0	0	0	1	0	4	46				
SERPINE1	5054	broad.mit.edu	37	7	100779016	100779016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100779016G>A	ENST00000223095.4	+	7	1178	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A326T	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	341					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCTCCACGTCGCGCAGGCGCT	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1021-1023)Gcg>Acg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						88.0	81.0	83.0					7																	100779016		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779016G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1021G>A	7.37:g.100779016G>A	ENSP00000223095:p.Ala341Thr					SERPINE1_ENST00000445463.2_Missense_Mutation_p.A326T	p.A341T	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1178	+	Lung NSC(181;0.136)|all_lung(186;0.182)		341					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.1021G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239239	0.39598	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.21361	2.01;2.01	5.53	3.14	0.36123	Serpin domain (3);	0.145761	0.47852	D	0.000215	T	0.09291	0.0229	N	0.05383	-0.06	0.42217	D	0.991832	P;P	0.45768	0.838;0.866	B;B	0.35039	0.113;0.194	T	0.14531	-1.0469	10	0.59425	D	0.04	.	10.8487	0.46757	0.0:0.0:0.3321:0.6679	.	326;341	F8WD53;P05121	.;PAI1_HUMAN	T	341;326;118	ENSP00000223095:A341T;ENSP00000396766:A326T	ENSP00000223095:A341T	A	+	1	0	SERPINE1	100565736	0.996000	0.38824	0.023000	0.16930	0.142000	0.21351	2.987000	0.49378	0.378000	0.24764	-0.397000	0.06425	GCG		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		7	82	0	0	0	1	0	7	82				
PPL	5493	broad.mit.edu	37	16	4934269	4934269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4934269G>A	ENST00000345988.2	-	22	4476	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R1461*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1463					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGAGTCGGAGCAGGGCA	0.647																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4387-4389)Cga>Tga		periplakin							55.0	54.0	54.0					16																	4934269		2193	4297	6490	SO:0001587	stop_gained	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934269G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4387C>T	16.37:g.4934269G>A	ENSP00000340510:p.Arg1463*					PPL_ENST00000590782.2_Nonsense_Mutation_p.R1461*	p.R1463*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4476	-			1463					O60314|O60454|Q14C98	Nonsense_Mutation	SNP	ENST00000345988.2	37	c.4387C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	39	7.678426	0.98428	.	.	ENSG00000118898	ENST00000345988	.	.	.	5.74	-2.54	0.06307	.	1.123880	0.06797	N	0.787955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7386	0.57239	0.0:0.0668:0.6411:0.2921	.	.	.	.	X	1463	.	ENSP00000340510:R1463X	R	-	1	2	PPL	4874270	0.003000	0.15002	0.021000	0.16686	0.743000	0.42351	0.143000	0.16115	-0.347000	0.08299	-0.467000	0.05162	CGA		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		8	81	0	0	0	1	0	8	81				
CBS	875	broad.mit.edu	37	21	44484021	44484021	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44484021G>A	ENST00000398165.3	-	9	1076	c.817C>T	c.(817-819)Cct>Tct	p.P273S	CBS_ENST00000352178.5_Missense_Mutation_p.P273S|CBS_ENST00000398158.1_Missense_Mutation_p.P273S|CBS_ENST00000359624.3_Missense_Mutation_p.P273S|CBS_ENST00000544202.1_Missense_Mutation_p.P185S|CBS_ENST00000398168.1_Missense_Mutation_p.P273S|CBS_ENST00000470912.1_5'Flank	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	273					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CTGCATCCAGGACACTTCTCC	0.627																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(817-819)Cct>Tct		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						72.0	50.0	57.0					21																	44484021		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44484021G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.817C>T	21.37:g.44484021G>A	ENSP00000381231:p.Pro273Ser					CBS_ENST00000352178.5_Missense_Mutation_p.P273S|CBS_ENST00000359624.3_Missense_Mutation_p.P273S|CBS_ENST00000398158.1_Missense_Mutation_p.P273S|CBS_ENST00000398168.1_Missense_Mutation_p.P273S|CBS_ENST00000544202.1_Missense_Mutation_p.P185S	p.P273S	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			9	1076	-			273					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.817C>T	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322093	0.81580	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	4.95	4.95	0.65309	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.67517	2.055	0.80722	D	1	D;D	0.61697	0.99;0.98	D;P	0.65874	0.939;0.893	D	0.98158	1.0445	10	0.51188	T	0.08	-15.9159	15.9967	0.80256	0.0:0.0:1.0:0.0	.	273;230	P35520;B7Z2D6	CBS_HUMAN;.	S	273;273;273;273;273;230;185	ENSP00000381225:P273S;ENSP00000381231:P273S;ENSP00000352643:P273S;ENSP00000344460:P273S;ENSP00000381234:P273S;ENSP00000439332:P185S	ENSP00000344460:P273S	P	-	1	0	CBS	43357090	1.000000	0.71417	0.893000	0.35052	0.740000	0.42216	8.383000	0.90157	2.290000	0.77057	0.591000	0.81541	CCT		0.627	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		7	5	0	0	0	1	0	7	5				
PLEKHG3	26030	broad.mit.edu	37	14	65207966	65207966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65207966C>T	ENST00000394691.1	+	16	1878	c.1731C>T	c.(1729-1731)agC>agT	p.S577S	PLEKHG3_ENST00000247226.7_Silent_p.S521S|PLEKHG3_ENST00000471182.2_Silent_p.S110S|PLEKHG3_ENST00000484731.2_Silent_p.S82S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	577							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCCTGAGCAGCGAGGAGGAAG	0.617																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(1561-1563)agC>agT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							96.0	90.0	92.0					14																	65207966		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65207966C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1731C>T	14.37:g.65207966C>T						PLEKHG3_ENST00000484731.2_Silent_p.S82S|PLEKHG3_ENST00000471182.2_Silent_p.S110S|PLEKHG3_ENST00000394691.1_Silent_p.S577S	p.S521S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	1871	+			577					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.1563C>T																																																																																					0.617	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		8	78	0	0	0	1	0	8	78				
ATP7A	538	broad.mit.edu	37	X	77294367	77294367	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77294367T>G	ENST00000341514.6	+	18	3700	c.3545T>G	c.(3544-3546)aTt>aGt	p.I1182S	ATP7A_ENST00000350425.4_Missense_Mutation_p.I185S|ATP7A_ENST00000343533.5_Missense_Mutation_p.I1104S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1182					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAAGTCCTCATTGGTAACCGG	0.358																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3544-3546)aTt>aGt		ATPase, Cu++ transporting, alpha polypeptide							202.0	192.0	196.0					X																	77294367		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77294367T>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3545T>G	X.37:g.77294367T>G	ENSP00000345728:p.Ile1182Ser					ATP7A_ENST00000350425.4_Missense_Mutation_p.I185S|ATP7A_ENST00000343533.5_Missense_Mutation_p.I1104S	p.I1182S	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			18	3700	+			1182					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3545T>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415527	0.83449	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.87103	-2.21;-2.21;-2.21	4.43	4.43	0.53597	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93970	0.7248	10	0.87932	D	0	-12.1813	13.0303	0.58839	0.0:0.0:0.0:1.0	.	1182	Q04656	ATP7A_HUMAN	S	1104;185;1182	ENSP00000343026:I1104S;ENSP00000343678:I185S;ENSP00000345728:I1182S	ENSP00000345728:I1182S	I	+	2	0	ATP7A	77181023	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.904000	0.87408	1.443000	0.47586	0.381000	0.24937	ATT		0.358	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		10	246	0	0	0	1	0	10	246				
ZNF883	169834	broad.mit.edu	37	9	115760310	115760310	+	lincRNA	SNP	G	G	A	rs548839525		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115760310G>A	ENST00000427548.1	-	0	1503							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTGACTAAAAGCTTTCCCACA	0.358																																						ENST00000427548.1																			0													zinc finger protein 883							74.0	82.0	79.0					9																	115760310		2198	4296	6494			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760310G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760310G>A										P0CG24	ZN883_HUMAN			0	1503	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.358	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		13	27	0	0	0	1	0	13	27				
ADAM9	8754	broad.mit.edu	37	8	38940565	38940565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38940565A>G	ENST00000487273.2	+	18	2119	c.2041A>G	c.(2041-2043)Agt>Ggt	p.S681G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	681	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATACGGAGGAAGTGTGGACAG	0.418																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2041-2043)Agt>Ggt		ADAM metallopeptidase domain 9							96.0	85.0	89.0					8																	38940565		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38940565A>G	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2041A>G	8.37:g.38940565A>G	ENSP00000419446:p.Ser681Gly						p.S681G	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		18	2119	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	681			EGF-like.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.2041A>G	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.971038	0.92919	.	.	ENSG00000168615	ENST00000487273	D	0.96856	-4.15	5.91	5.91	0.95273	.	0.076448	0.85682	D	0.000000	D	0.98150	0.9389	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99116	1.0848	10	0.87932	D	0	.	16.3351	0.83056	1.0:0.0:0.0:0.0	.	681	Q13443	ADAM9_HUMAN	G	681	ENSP00000419446:S681G	ENSP00000418437:S681G	S	+	1	0	ADAM9	39059722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.788000	0.91834	2.262000	0.75019	0.528000	0.53228	AGT		0.418	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			4	43	0	0	0	1	0	4	43				
CLTC	1213	broad.mit.edu	37	17	57762508	57762508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57762508G>A	ENST00000269122.3	+	29	4800	c.4526G>A	c.(4525-4527)aGa>aAa	p.R1509K	CLTC_ENST00000393043.1_Missense_Mutation_p.R1509K|CLTC_ENST00000579456.1_Missense_Mutation_p.R446K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1509	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGTTCAGGAGAATTGCTGCT	0.418			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(4525-4527)aGa>aAa		clathrin, heavy chain (Hc)							125.0	126.0	126.0					17																	57762508		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57762508G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4526G>A	17.37:g.57762508G>A	ENSP00000269122:p.Arg1509Lys					CLTC_ENST00000393043.1_Missense_Mutation_p.R1509K|CLTC_ENST00000579456.1_Missense_Mutation_p.R446K	p.R1509K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			29	4800	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1509			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.4526G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711191	0.89112	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.19532	2.14;2.14	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	M	0.61703	1.905	0.80722	D	1	B;B	0.26672	0.156;0.068	B;B	0.40477	0.291;0.33	T	0.07947	-1.0746	10	0.25106	T	0.35	-8.8668	19.268	0.93997	0.0:0.0:1.0:0.0	.	1509;1509	Q00610;Q00610-2	CLH1_HUMAN;.	K	1509	ENSP00000269122:R1509K;ENSP00000376763:R1509K	ENSP00000269122:R1509K	R	+	2	0	CLTC	55117290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.622000	0.88805	0.650000	0.86243	AGA		0.418	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		43	72	0	0	0	1	0	43	72				
MKI67	4288	broad.mit.edu	37	10	129906896	129906896	+	Missense_Mutation	SNP	C	C	T	rs143061680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906896C>T	ENST00000368654.3	-	13	3583	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.E710K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1070	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGGAGACTCCTTAAACGTT	0.562																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3208-3210)Gag>Aag		marker of proliferation Ki-67		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	221.0	199.0	207.0		2128,3208	-1.0	0.0	10	dbSNP_134	207	1,8599		0,1,4299	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	710/2897,1070/3257	129906896	1,13005	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906896C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3208G>A	10.37:g.129906896C>T	ENSP00000357643:p.Glu1070Lys					MKI67_ENST00000368653.3_Missense_Mutation_p.E710K	p.E1070K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3583	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1070			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3208G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974712	0.53720	0.0	1.16E-4	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02421	4.3;4.3	3.76	-1.05	0.10036	.	.	.	.	.	T	0.06188	0.0160	L	0.49126	1.545	0.09310	N	1	B;D;D	0.69078	0.395;0.997;0.989	B;D;P	0.64042	0.076;0.921;0.869	T	0.35624	-0.9781	9	0.15499	T	0.54	.	4.9523	0.14021	0.0:0.2934:0.403:0.3036	.	1069;710;1070	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1070;710;1069	ENSP00000357643:E1070K;ENSP00000357642:E710K	ENSP00000357642:E710K	E	-	1	0	MKI67	129796886	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.066000	0.11598	-0.306000	0.08818	0.561000	0.74099	GAG		0.562	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		81	118	0	0	0	1	0	81	118				
HCFC2	29915	broad.mit.edu	37	12	104490205	104490205	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104490205G>A	ENST00000229330.4	+	12	1838	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	578					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAGCAACGCCGTTTTCTGTAA	0.343																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1732-1734)ccG>ccA		host cell factor C2							120.0	119.0	119.0					12																	104490205		2203	4300	6503	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104490205G>A	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1734G>A	12.37:g.104490205G>A						HCFC2_ENST00000550335.1_3'UTR	p.P578P	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			12	1838	+			578					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.1734G>A	CCDS9097.1																																																																																				0.343	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		31	43	0	0	0	1	0	31	43				
FAM217A	222826	broad.mit.edu	37	6	4070035	4070035	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4070035G>T	ENST00000274673.3	-	7	825	c.422C>A	c.(421-423)cCt>cAt	p.P141H	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	141																	TGGCAGTCCAGGGTAAGGACC	0.403																																						ENST00000274673.3																			0											c.(421-423)cCt>cAt		family with sequence similarity 217, member A							87.0	80.0	82.0					6																	4070035		2203	4300	6503	SO:0001583	missense	222826							g.chr6:4070035G>T	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.422C>A	6.37:g.4070035G>T	ENSP00000274673:p.Pro141His					FAM217A_ENST00000380188.2_5'UTR	p.P141H	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	825	-			141					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.422C>A	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	9.334	1.061167	0.19987	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.14640	2.49	5.43	2.66	0.31614	.	0.637797	0.15402	N	0.264269	T	0.03095	0.0091	L	0.32530	0.975	0.09310	N	1	B	0.28605	0.217	B	0.24155	0.051	T	0.38457	-0.9660	10	0.87932	D	0	-1.3326	4.8335	0.13453	0.1746:0.0:0.6561:0.1693	.	141	Q8IXS0	CF146_HUMAN	H	141;269	ENSP00000274673:P141H	ENSP00000274673:P141H	P	-	2	0	C6orf146	4015034	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	0.266000	0.18534	0.401000	0.25424	-0.145000	0.13849	CCT		0.403	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		26	44	1	0	3.6726e-16	1	4.7309e-16	26	44				
CRIPAK	285464	broad.mit.edu	37	4	1389271	1389271	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1389271G>A	ENST00000324803.4	+	1	3932	c.972G>A	c.(970-972)acG>acA	p.T324T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	324					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACGTGCCATTGTG	0.667																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(970-972)acG>acA		cysteine-rich PAK1 inhibitor							184.0	187.0	186.0					4																	1389271		2202	4300	6502	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389271G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.972G>A	4.37:g.1389271G>A							p.T324T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3932	+			324					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.972G>A	CCDS3349.1																																																																																				0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		23	156	0	0	0	1	0	23	156				
KIF13B	23303	broad.mit.edu	37	8	29048567	29048567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29048567G>A	ENST00000524189.1	-	4	208	c.170C>T	c.(169-171)gCt>gTt	p.A57V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A57V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	57	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGATCATAAGCAAACACCTG	0.343																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(169-171)gCt>gTt		kinesin family member 13B							180.0	168.0	172.0					8																	29048567		1849	4103	5952	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29048567G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.170C>T	8.37:g.29048567G>A	ENSP00000427900:p.Ala57Val					KIF13B_ENST00000521515.1_Missense_Mutation_p.A57V	p.A57V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	4	208	-		Ovarian(32;0.000536)	57			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.170C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857826	0.91433	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.75260	-0.92;-0.92	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	L	0.48362	1.52	0.80722	D	1	P	0.36027	0.533	B	0.44044	0.439	T	0.77945	-0.2397	10	0.66056	D	0.02	.	19.0052	0.92848	0.0:0.0:1.0:0.0	.	57	F8VPJ2	.	V	57	ENSP00000427900:A57V;ENSP00000429201:A57V	ENSP00000429201:A57V	A	-	2	0	KIF13B	29104486	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	9.120000	0.94369	2.793000	0.96121	0.591000	0.81541	GCT		0.343	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			34	73	0	0	0	1	0	34	73				
ARID2	196528	broad.mit.edu	37	12	46244611	46244611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244611C>A	ENST00000334344.6	+	15	2877	c.2705C>A	c.(2704-2706)cCt>cAt	p.P902H	ARID2_ENST00000422737.1_Missense_Mutation_p.P753H|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.P512H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	902	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACCTCTCCCTTCTCAGCAA	0.468			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2704-2706)cCt>cAt		AT rich interactive domain 2 (ARID, RFX-like)							128.0	115.0	119.0					12																	46244611		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244611C>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2705C>A	12.37:g.46244611C>A	ENSP00000335044:p.Pro902His					ARID2_ENST00000444670.1_Missense_Mutation_p.P512H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P753H	p.P902H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2877	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	902			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.2705C>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147935	0.78001	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.47528	0.84	5.54	5.54	0.83059	.	0.151225	0.64402	D	0.000009	T	0.51092	0.1654	N	0.24115	0.695	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;P	0.63192	0.912;0.912;0.87	T	0.42172	-0.9467	10	0.27785	T	0.31	-10.645	15.0061	0.71513	0.0:0.858:0.142:0.0	.	902;512;902	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	H	902;753;512	ENSP00000335044:P902H	ENSP00000335044:P902H	P	+	2	0	ARID2	44530878	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.253000	0.58791	2.612000	0.88384	0.561000	0.74099	CCT		0.468	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		12	99	1	0	2.80697e-09	1	3.39963e-09	12	99				
IL31	386653	broad.mit.edu	37	12	122656969	122656969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122656969G>A	ENST00000377035.1	-	3	511	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	162					immune system process (GO:0002376)	extracellular space (GO:0005615)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTAAGTGGTGGCCTGTTGGGC	0.473																																						ENST00000377035.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(484-486)gCc>gTc		interleukin 31							100.0	95.0	97.0					12																	122656969		2203	4300	6503	SO:0001583	missense	386653					extracellular space	cytokine activity	g.chr12:122656969G>A	AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.485C>T	12.37:g.122656969G>A	ENSP00000366234:p.Ala162Val						p.A162V	NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	511	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)	162					A2RUQ1	Missense_Mutation	SNP	ENST00000377035.1	37	c.485C>T	CCDS31919.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172179	0.38315	.	.	ENSG00000204671	ENST00000377035	.	.	.	2.57	-2.42	0.06542	.	.	.	.	.	T	0.17408	0.0418	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.20955	0.032	T	0.14504	-1.0470	8	0.87932	D	0	0.0743	5.6746	0.17741	0.172:0.1919:0.6361:0.0	.	162	Q6EBC2	IL31_HUMAN	V	162	.	ENSP00000366234:A162V	A	-	2	0	IL31	121222922	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.006000	0.12833	-0.627000	0.05589	-0.302000	0.09304	GCC		0.473	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336		32	52	0	0	0	1	0	32	52				
SHROOM1	134549	broad.mit.edu	37	5	132159124	132159124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132159124G>A	ENST00000378679.3	-	9	2848	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R613C|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R682C|SHROOM1_ENST00000488072.1_5'UTR	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	682	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCGCTTGGCGCCTGGCCCAC	0.677																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2044-2046)Cgc>Tgc		shroom family member 1							15.0	18.0	17.0					5																	132159124		2190	4281	6471	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132159124G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2044C>T	5.37:g.132159124G>A	ENSP00000367950:p.Arg682Cys					SHROOM1_ENST00000378676.1_Missense_Mutation_p.R613C|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R682C|SHROOM1_ENST00000488072.1_5'UTR	p.R682C	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	2848	-			682			ASD2.		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.2044C>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	7.737	0.700368	0.15106	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.32272	1.46;1.46;1.46	4.91	-1.6	0.08426	Apx/shroom, ASD2 (2);	0.628215	0.16744	N	0.201318	T	0.30355	0.0762	L	0.40543	1.245	0.19575	N	0.999965	D;B	0.89917	1.0;0.068	P;B	0.60682	0.878;0.019	T	0.13656	-1.0501	10	0.44086	T	0.13	-0.0491	0.877	0.01226	0.2218:0.1307:0.2101:0.4374	.	682;682	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	C	682;682;613	ENSP00000367950:R682C;ENSP00000324245:R682C;ENSP00000367947:R613C	ENSP00000324245:R682C	R	-	1	0	SHROOM1	132187023	0.006000	0.16342	0.000000	0.03702	0.214000	0.24535	1.017000	0.29989	-0.201000	0.10284	-0.410000	0.06199	CGC		0.677	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		15	6	0	0	0	1	0	15	6				
ENPP2	5168	broad.mit.edu	37	8	120628563	120628563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120628563G>A	ENST00000075322.6	-	8	777	c.719C>T	c.(718-720)gCc>gTc	p.A240V	ENPP2_ENST00000259486.6_Missense_Mutation_p.A240V|ENPP2_ENST00000522826.1_Missense_Mutation_p.A240V|ENPP2_ENST00000427067.2_Missense_Mutation_p.A236V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	240					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGAAAAGTGGCATCAAATAC	0.363																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(706-708)gCc>gTc		ectonucleotide pyrophosphatase/phosphodiesterase 2							121.0	108.0	113.0					8																	120628563		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120628563G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.719C>T	8.37:g.120628563G>A	ENSP00000075322:p.Ala240Val					ENPP2_ENST00000259486.6_Missense_Mutation_p.A240V|ENPP2_ENST00000075322.6_Missense_Mutation_p.A240V|ENPP2_ENST00000522826.1_Missense_Mutation_p.A240V	p.A236V			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	887	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		240					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.707C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053830	0.93793	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.74665	0.3746	L	0.33293	1	0.80722	D	1	P;D;P	0.67145	0.845;0.996;0.554	P;P;P	0.56127	0.715;0.792;0.464	T	0.77027	-0.2740	10	0.66056	D	0.02	.	19.5156	0.95162	0.0:0.0:1.0:0.0	.	240;240;240	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	V	240;236;240;240;222	ENSP00000259486:A240V;ENSP00000403315:A236V;ENSP00000428291:A240V;ENSP00000075322:A240V;ENSP00000428304:A222V	ENSP00000075322:A240V	A	-	2	0	ENPP2	120697744	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.869000	0.99810	2.605000	0.88082	0.563000	0.77884	GCC		0.363	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			4	56	0	0	0	1	0	4	56				
FER1L6	654463	broad.mit.edu	37	8	124987529	124987529	+	Silent	SNP	C	C	T	rs371282343		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124987529C>T	ENST00000522917.1	+	8	872	c.666C>T	c.(664-666)acC>acT	p.T222T	FER1L6_ENST00000399018.1_Silent_p.T222T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	222						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCTGACACCGAGGAGCCAA	0.453																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(664-666)acC>acT		fer-1-like 6 (C. elegans)		C		1,3883		0,1,1941	108.0	106.0	106.0		666	-11.0	0.0	8		106	0,8286		0,0,4143	no	coding-synonymous	FER1L6	NM_001039112.2		0,1,6084	TT,TC,CC		0.0,0.0257,0.0082		222/1858	124987529	1,12169	1942	4143	6085	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:124987529C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.666C>T	8.37:g.124987529C>T						FER1L6_ENST00000399018.1_Silent_p.T222T	p.T222T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		8	872	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		222						Silent	SNP	ENST00000522917.1	37	c.666C>T	CCDS43767.1																																																																																				0.453	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		39	52	0	0	0	1	0	39	52				
MTHFR	4524	broad.mit.edu	37	1	11863020	11863020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11863020G>A	ENST00000376592.1	-	1	282	c.154C>T	c.(154-156)Cga>Tga	p.R52*	MTHFR_ENST00000376590.3_Nonsense_Mutation_p.R52*|MTHFR_ENST00000376583.3_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376585.1_Nonsense_Mutation_p.R93*			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	52			R -> Q (in MTHFRD). {ECO:0000269|PubMed:7726158}.		blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GATTCCAATCGCCGCCTCATC	0.552																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(154-156)Cga>Tga		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						62.0	62.0	62.0					1																	11863020		2203	4300	6503	SO:0001587	stop_gained	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11863020G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.154C>T	1.37:g.11863020G>A	ENSP00000365777:p.Arg52*					MTHFR_ENST00000376583.3_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376585.1_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376590.3_Nonsense_Mutation_p.R52*	p.R52*			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	1	282	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	52		R -> Q (in MTHFRD).			B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Nonsense_Mutation	SNP	ENST00000376592.1	37	c.154C>T	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740318	0.89573	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034	.	.	.	5.66	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.0361	0.58873	0.0:0.0:0.4762:0.5238	.	.	.	.	X	52;93;52;93;52	.	ENSP00000365767:R93X	R	-	1	2	MTHFR	11785607	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.964000	0.40462	0.984000	0.38629	-0.425000	0.05940	CGA		0.552	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		9	21	0	0	0	1	0	9	21				
PMVK	10654	broad.mit.edu	37	1	154898882	154898882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627																																						ENST00000368467.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(388-390)cgC>cgT		phosphomevalonate kinase							81.0	61.0	68.0					1																	154898882		2203	4300	6503	SO:0001819	synonymous_variant	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154898882G>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.390C>T	1.37:g.154898882G>A							p.R130R	NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	695	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		130					Q5TZW9	Silent	SNP	ENST00000368467.3	37	c.390C>T	CCDS1073.1																																																																																				0.627	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		4	34	0	0	0	1	0	4	34				
CKAP2L	150468	broad.mit.edu	37	2	113514748	113514748	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113514748G>T	ENST00000302450.6	-	4	278	c.200C>A	c.(199-201)cCt>cAt	p.P67H	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_De_novo_Start_OutOfFrame	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	67						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGGTTTGACAGGCAAAACAAC	0.383																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28								cytoskeleton associated protein 2-like							126.0	135.0	132.0					2																	113514748		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514748G>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.200C>A	2.37:g.113514748G>T	ENSP00000305204:p.Pro67His					CKAP2L_ENST00000302450.6_Missense_Mutation_p.P67H|CKAP2L_ENST00000481732.1_Intron				Q8IYA6	CKP2L_HUMAN			0	228	-								A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Translation_Start_Site	SNP	ENST00000302450.6	37		CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661626	0.67700	.	.	ENSG00000169607	ENST00000302450	T	0.12465	2.68	5.16	5.16	0.70880	.	0.191595	0.35805	N	0.002972	T	0.37919	0.1021	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07539	-1.0767	10	0.72032	D	0.01	-15.7261	14.8673	0.70427	0.0:0.0:1.0:0.0	.	67	Q8IYA6	CKP2L_HUMAN	H	67	ENSP00000305204:P67H	ENSP00000305204:P67H	P	-	2	0	CKAP2L	113231219	1.000000	0.71417	0.997000	0.53966	0.661000	0.39034	2.914000	0.48797	2.791000	0.96007	0.591000	0.81541	CCT		0.383	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		12	171	1	0	9.05144e-12	1	1.1316e-11	12	171				
DMBT1	1755	broad.mit.edu	37	10	124337336	124337336	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124337336C>A	ENST00000338354.3	+	8	723	c.617C>A	c.(616-618)cCt>cAt	p.P206H	DMBT1_ENST00000368909.3_Missense_Mutation_p.P206H|DMBT1_ENST00000330163.4_Missense_Mutation_p.P206H|DMBT1_ENST00000344338.3_Missense_Mutation_p.P206H|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.P206H|DMBT1_ENST00000368956.2_Missense_Mutation_p.P206H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	206					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCCCAGCCTCAGTCAACA	0.512																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(616-618)cCt>cAt		deleted in malignant brain tumors 1							142.0	149.0	147.0					10																	124337336		1970	4152	6122	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124337336C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.617C>A	10.37:g.124337336C>A	ENSP00000342210:p.Pro206His					DMBT1_ENST00000368956.2_Missense_Mutation_p.P206H|DMBT1_ENST00000368909.3_Missense_Mutation_p.P206H|DMBT1_ENST00000344338.3_Missense_Mutation_p.P206H|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.P206H|DMBT1_ENST00000330163.4_Missense_Mutation_p.P206H	p.P206H			Q9UGM3	DMBT1_HUMAN			8	723	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	206					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.617C>A		.	.	.	.	.	.	.	.	.	.	c	11.34	1.609073	0.28623	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	2.79	1.87	0.25490	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.28466	0.0704	N	0.08118	0	0.09310	N	0.999999	P;B;D;D;P	0.61697	0.663;0.006;0.99;0.974;0.847	B;B;P;P;B	0.54664	0.413;0.012;0.634;0.758;0.401	T	0.10132	-1.0643	9	0.14656	T	0.56	.	5.3877	0.16227	0.0:0.8403:0.0:0.1597	.	206;206;206;206;206	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	H	206	ENSP00000342210:P206H;ENSP00000343175:P206H;ENSP00000327747:P206H;ENSP00000357905:P206H;ENSP00000357951:P206H;ENSP00000357952:P206H	ENSP00000331522:P206H	P	+	2	0	DMBT1	124327326	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-0.136000	0.10405	0.734000	0.32515	0.514000	0.50259	CCT		0.512	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		8	53	1	0	0.00448238	1	0.00472561	8	53				
KIAA0196	9897	broad.mit.edu	37	8	126044599	126044599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126044599C>T	ENST00000318410.7	-	27	3568	c.3219G>A	c.(3217-3219)tgG>tgA	p.W1073*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.W925*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1073					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAGTGGTGGCCAATCAACCG	0.522																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(3217-3219)tgG>tgA		KIAA0196							113.0	104.0	107.0					8																	126044599		2203	4300	6503	SO:0001587	stop_gained	9897				cell death	WASH complex		g.chr8:126044599C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3219G>A	8.37:g.126044599C>T	ENSP00000318016:p.Trp1073*					KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.W925*	p.W1073*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		27	3568	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1073					A8K4R7|Q3KQX5|Q8TBQ2	Nonsense_Mutation	SNP	ENST00000318410.7	37	c.3219G>A	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	42	9.590616	0.99213	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	.	.	.	5.43	5.43	0.79202	.	0.057366	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-6.9798	18.2427	0.89973	0.0:1.0:0.0:0.0	.	.	.	.	X	1073;925	.	ENSP00000318016:W1073X	W	-	3	0	KIAA0196	126113781	1.000000	0.71417	0.999000	0.59377	0.373000	0.29922	7.798000	0.85924	2.537000	0.85549	0.555000	0.69702	TGG		0.522	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		9	69	0	0	0	1	0	9	69				
NIF3L1	60491	broad.mit.edu	37	2	201756936	201756936	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201756936C>A	ENST00000409020.1	+	2	564	c.270C>A	c.(268-270)ctC>ctA	p.L90L	NIF3L1_ENST00000416651.1_Silent_p.L90L|NIF3L1_ENST00000409588.1_Silent_p.L90L|PPIL3_ENST00000409449.1_5'Flank|PPIL3_ENST00000465823.1_5'Flank|PPIL3_ENST00000286175.8_5'Flank|NIF3L1_ENST00000359683.4_Silent_p.L63L|NIF3L1_ENST00000409357.1_Silent_p.L90L			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	90					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						ACCTCATTCTCTCCTACCATC	0.522																																						ENST00000409020.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(268-270)ctC>ctA		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							164.0	155.0	158.0					2																	201756936		1992	4165	6157	SO:0001819	synonymous_variant	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201756936C>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.270C>A	2.37:g.201756936C>A						NIF3L1_ENST00000409588.1_Silent_p.L90L|NIF3L1_ENST00000409357.1_Silent_p.L90L|NIF3L1_ENST00000416651.1_Silent_p.L90L|NIF3L1_ENST00000359683.4_Silent_p.L63L	p.L90L			Q9GZT8	NIF3L_HUMAN			2	564	+			90					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	37	c.270C>A	CCDS46485.1																																																																																				0.522	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		7	111	1	0	1	1	1	7	111				
C10orf55	414236	broad.mit.edu	37	10	75672800	75672800	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75672800C>A	ENST00000409178.1	-	3	301		c.e3+1		C10orf55_ENST00000412307.2_Splice_Site|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Nonsense_Mutation_p.Y87*|PLAU_ENST00000372764.3_Nonsense_Mutation_p.Y104*|PLAU_ENST00000372762.4_Nonsense_Mutation_p.Y68*	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					AGCAAACGTACCATGCCCACA	0.567																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(259-261)taC>taA		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						75.0	68.0	70.0					10																	75672800		2203	4300	6503	SO:0001630	splice_region_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75672800C>A		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+1G>T	10.37:g.75672800C>A						PLAU_ENST00000372762.4_Nonsense_Mutation_p.Y68*|PLAU_ENST00000372764.3_Nonsense_Mutation_p.Y104*|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Splice_Site|C10orf55_ENST00000409178.1_Splice_Site	p.Y87*	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			4	743	+	Prostate(51;0.0112)		104			Kringle.		Q3KRG4|Q8NAK4	Nonsense_Mutation	SNP	ENST00000409178.1	37	c.261C>A	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945068	0.73672	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	.	.	.	5.78	2.85	0.33270	.	0.210881	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7676	0.18235	0.1537:0.6802:0.0:0.166	.	.	.	.	X	87;104;68;68	.	ENSP00000361847:Y68X	Y	+	3	2	PLAU	75342806	0.996000	0.38824	0.910000	0.35882	0.858000	0.48976	2.045000	0.41250	0.758000	0.33059	0.650000	0.86243	TAC		0.567	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791	Intron	21	25	1	0	3.5997e-14	1	4.58862e-14	21	25				
FAM41C	284593	broad.mit.edu	37	1	809594	809594	+	lincRNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:809594C>T	ENST00000446136.1	-	0	1099					NR_027055.1				family with sequence similarity 41, member C																		GGTACACGGGCGAGGGCATGG	0.527																																						ENST00000446136.1																			0																																																			0							g.chr1:809594C>T	BC047940		1p36.33	2013-01-16	2011-08-31	2011-08-31	ENSG00000230368	ENSG00000230368		"""Long non-coding RNAs"""	27635	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_027055		Approved		uc001abt.4		OTTHUMG00000002469		1.37:g.809594C>T								NR_027055.1						0	1099	-									RNA	SNP	ENST00000446136.1	37																																																																																						0.527	FAM41C-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007021.1	NR_027055		39	47	0	0	0	1	0	39	47				
C8B	732	broad.mit.edu	37	1	57422504	57422504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57422504C>T	ENST00000371237.4	-	3	395	c.329G>A	c.(328-330)tGt>tAt	p.C110Y	C8B_ENST00000543257.1_Missense_Mutation_p.C58Y|C8B_ENST00000535057.1_Missense_Mutation_p.C48Y	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTTGGTAACACAGTCTTCGAC	0.502																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(172-174)tGt>tAt		complement component 8, beta polypeptide							287.0	265.0	273.0					1																	57422504		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422504C>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.329G>A	1.37:g.57422504C>T	ENSP00000360281:p.Cys110Tyr					C8B_ENST00000535057.1_Missense_Mutation_p.C48Y|C8B_ENST00000371237.4_Missense_Mutation_p.C110Y	p.C58Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			4	739	-			110					A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.173G>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258455	0.80246	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;T	0.93426	-3.22;-3.22;1.11	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.98894	1.0774	10	0.87932	D	0	-17.9798	19.1752	0.93601	0.0:1.0:0.0:0.0	.	58;48;110	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Y	110;58;48	ENSP00000360281:C110Y;ENSP00000442548:C58Y;ENSP00000440113:C48Y	ENSP00000360281:C110Y	C	-	2	0	C8B	57195092	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	5.590000	0.67530	2.712000	0.92718	0.650000	0.86243	TGT		0.502	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			32	252	0	0	0	1	0	32	252				
ZNF441	126068	broad.mit.edu	37	19	11890911	11890911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11890911G>A	ENST00000357901.4	+	4	374	c.272G>A	c.(271-273)aGt>aAt	p.S91N	ZNF441_ENST00000454339.2_Missense_Mutation_p.S24N	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCAAGACAGTATTGTGAAC	0.398																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(271-273)aGt>aAt		zinc finger protein 441							85.0	84.0	84.0					19																	11890911		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11890911G>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.272G>A	19.37:g.11890911G>A	ENSP00000350576:p.Ser91Asn					ZNF441_ENST00000454339.2_Missense_Mutation_p.S24N	p.S91N	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	374	+			91						Missense_Mutation	SNP	ENST00000357901.4	37	c.272G>A	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	g	0.586	-0.835235	0.02713	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.06933	3.4;3.24	1.04	-2.09	0.07232	.	.	.	.	.	T	0.07818	0.0196	M	0.64997	1.995	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40040	-0.9584	9	0.54805	T	0.06	.	0.4485	0.00497	0.2521:0.3271:0.175:0.2458	.	91	Q8N8Z8	ZN441_HUMAN	N	47;91;24	ENSP00000350576:S91N;ENSP00000403738:S24N	ENSP00000350576:S91N	S	+	2	0	ZNF441	11751911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.748000	0.04818	-3.444000	0.00162	-1.806000	0.00616	AGT		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		26	46	0	0	0	1	0	26	46				
DGKD	8527	broad.mit.edu	37	2	234368407	234368407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234368407G>A	ENST00000264057.2	+	23	2711	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	DGKD_ENST00000409813.3_Missense_Mutation_p.R856H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	900					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTCAGTGTCGCACGGTGAAG	0.567																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2698-2700)cGc>cAc		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						85.0	72.0	77.0					2																	234368407		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234368407G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2699G>A	2.37:g.234368407G>A	ENSP00000264057:p.Arg900His					DGKD_ENST00000409813.3_Missense_Mutation_p.R856H	p.R900H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	23	2711	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	900					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2699G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310985	0.81358	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.47528	0.84;0.84	4.35	4.35	0.52113	Diacylglycerol kinase, accessory domain (2);	0.000000	0.64402	D	0.000001	T	0.57755	0.2075	L	0.35487	1.065	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;D	0.77004	0.989;0.955	T	0.55798	-0.8084	10	0.34782	T	0.22	.	17.4273	0.87529	0.0:0.0:1.0:0.0	.	856;900	Q16760-2;Q16760	.;DGKD_HUMAN	H	900;856	ENSP00000264057:R900H;ENSP00000386455:R856H	ENSP00000264057:R900H	R	+	2	0	DGKD	234033146	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.540000	0.98080	2.442000	0.82660	0.462000	0.41574	CGC		0.567	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		15	24	0	0	0	1	0	15	24				
FZD10	11211	broad.mit.edu	37	12	130649218	130649218	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130649218G>A	ENST00000229030.4	+	1	2215	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	577					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGCCCAGTCGCCCACCTGCG	0.542																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1729-1731)tcG>tcA		frizzled family receptor 10							16.0	19.0	18.0					12																	130649218		2171	4281	6452	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130649218G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1731G>A	12.37:g.130649218G>A						FZD10_ENST00000539839.1_3'UTR	p.S577S			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	2215	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		577						Silent	SNP	ENST00000229030.4	37	c.1731G>A	CCDS9267.1																																																																																				0.542	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	11	0	0	0	1	0	8	11				
ARL15	54622	broad.mit.edu	37	5	53409155	53409155	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:53409155C>A	ENST00000504924.1	-	4	432	c.339G>T	c.(337-339)gaG>gaT	p.E113D	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000507646.2_Missense_Mutation_p.E113D|ARL15_ENST00000502271.1_De_novo_Start_OutOfFrame	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	113					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				CTAAATCATCCTCTGAAGAGG	0.423																																						ENST00000502271.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6								ADP-ribosylation factor-like 15							84.0	82.0	83.0					5																	53409155		1886	4108	5994	SO:0001583	missense	54622						GTP binding	g.chr5:53409155C>A	BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.339G>T	5.37:g.53409155C>A	ENSP00000433427:p.Glu113Asp					ARL15_ENST00000507646.2_Missense_Mutation_p.E113D|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000504924.1_Missense_Mutation_p.E113D				Q9NXU5	ARL15_HUMAN			0	355	-		Lung NSC(810;0.000779)						Q6IAD0	Translation_Start_Site	SNP	ENST00000504924.1	37		CCDS54850.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286106	0.40394	.	.	ENSG00000185305	ENST00000504924;ENST00000507646	T;T	0.63913	-0.07;-0.07	5.9	1.33	0.21861	.	0.092308	0.64402	D	0.000001	T	0.45357	0.1338	N	0.21097	0.63	0.45307	D	0.998302	B	0.18166	0.026	B	0.19946	0.027	T	0.31336	-0.9947	10	0.87932	D	0	-22.0292	9.5269	0.39169	0.0:0.2152:0.0:0.7848	.	113	Q9NXU5	ARL15_HUMAN	D	113	ENSP00000433427:E113D;ENSP00000432680:E113D	ENSP00000433427:E113D	E	-	3	2	ARL15	53444912	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.589000	0.23939	0.003000	0.14656	-0.253000	0.11424	GAG		0.423	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2	NM_019087		12	23	1	0	9.31168e-06	1	1.06029e-05	12	23				
TPTE	7179	broad.mit.edu	37	21	10996140	10996140	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10996140C>A	ENST00000415664.2	-	11	1346		c.e11-1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCACCAATACCTATCCAAAAA	0.378																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e11-1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10996140C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.1991-1G>T	21.37:g.10996140C>A										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	1346	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.378	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	5	94	1	0	0.000602214	1	0.000649039	5	94				
MYO9B	4650	broad.mit.edu	37	19	17298836	17298836	+	Silent	SNP	C	C	T	rs368693824		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17298836C>T	ENST00000594824.1	+	19	2817	c.2670C>T	c.(2668-2670)agC>agT	p.S890S	MYO9B_ENST00000595618.1_Silent_p.S890S|MYO9B_ENST00000397274.2_Silent_p.S890S			Q13459	MYO9B_HUMAN	myosin IXB	890	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGGTACAGCGCCAAGTACA	0.572																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(2668-2670)agC>agT		myosin IXB		C	,	1,4395		0,1,2197	50.0	48.0	49.0		2670,2670	-6.9	0.7	19		49	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	MYO9B	NM_001130065.1,NM_004145.3	,	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	,	890/2023,890/2158	17298836	1,12985	2198	4295	6493	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17298836C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2670C>T	19.37:g.17298836C>T						MYO9B_ENST00000397274.2_Silent_p.S890S|MYO9B_ENST00000594824.1_Silent_p.S890S	p.S890S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			19	2822	+			890			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.2670C>T																																																																																					0.572	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			7	5	0	0	0	1	0	7	5				
CHRNE	1145	broad.mit.edu	37	17	4799092	4799092	+	IGR	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799092T>C	ENST00000293780.4	-	0	2455				MINK1_ENST00000355280.6_Missense_Mutation_p.V1110A|MINK1_ENST00000453408.3_Missense_Mutation_p.V1090A|MINK1_ENST00000347992.7_Missense_Mutation_p.V1081A	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TGGACCACCGTGGGGGACATG	0.552																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3328-3330)gTg>gCg		misshapen-like kinase 1							41.0	48.0	45.0					17																	4799092		1990	4148	6138	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4799092T>C	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799092T>C						MINK1_ENST00000453408.3_Missense_Mutation_p.V1090A|MINK1_ENST00000347992.7_Missense_Mutation_p.V1081A	p.V1110A	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			27	3525	+			1110			CNH.|Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3329T>C	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021645	0.54576	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.05717	3.4;3.4;3.4	4.87	4.87	0.63330	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.85197	2.74	0.58432	D	0.999999	P;P;D;P	0.53312	0.873;0.954;0.959;0.954	P;D;D;D	0.67900	0.784;0.954;0.954;0.954	T	0.01914	-1.1248	10	0.87932	D	0	.	12.4613	0.55733	0.0:0.0:0.0:1.0	.	1073;1090;1110;1081	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	A	1110;1090;1081;70	ENSP00000347427:V1110A;ENSP00000406487:V1090A;ENSP00000269296:V1081A	ENSP00000269296:V1081A	V	+	2	0	MINK1	4739868	1.000000	0.71417	0.996000	0.52242	0.428000	0.31595	7.868000	0.87116	2.047000	0.60756	0.482000	0.46254	GTG		0.552	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			7	18	0	0	0	1	0	7	18				
ZNF445	353274	broad.mit.edu	37	3	44489264	44489264	+	Silent	SNP	G	G	T	rs193072142	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44489264G>T	ENST00000396077.2	-	8	2246	c.1899C>A	c.(1897-1899)acC>acA	p.T633T	ZNF445_ENST00000425708.2_Silent_p.T633T	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	633					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCATCTAAAGGTTTTCCTAC	0.413																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(1897-1899)acC>acA		zinc finger protein 445							101.0	103.0	102.0					3																	44489264		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44489264G>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1899C>A	3.37:g.44489264G>T						ZNF445_ENST00000396077.2_Silent_p.T633T	p.T633T			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2240	-			633					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.1899C>A	CCDS2713.1																																																																																				0.413	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		10	133	1	0	2.74318e-10	1	3.37541e-10	10	133				
TLE2	7089	broad.mit.edu	37	19	3013775	3013775	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3013775G>A	ENST00000262953.6	-	11	1027	c.765C>T	c.(763-765)tgC>tgT	p.C255C	TLE2_ENST00000455444.2_Silent_p.C133C|TLE2_ENST00000591529.1_Silent_p.C269C|TLE2_ENST00000590536.1_Silent_p.C256C|TLE2_ENST00000443826.3_Silent_p.C133C|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000426948.2_Silent_p.C269C	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	255	CCN domain.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACCTTTCCGCAGGGGGTGG	0.612																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(763-765)tgC>tgT		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							43.0	47.0	46.0					19																	3013775		1910	4114	6024	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3013775G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.765C>T	19.37:g.3013775G>A						TLE2_ENST00000591529.1_Silent_p.C269C|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000426948.2_Silent_p.C269C|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Silent_p.C133C|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Silent_p.C133C|TLE2_ENST00000590536.1_Silent_p.C256C	p.C255C	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1027	-			255			CCN domain.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.765C>T	CCDS45911.1																																																																																				0.612	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		25	52	0	0	0	1	0	25	52				
TINAG	27283	broad.mit.edu	37	6	54214695	54214695	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54214695G>A	ENST00000259782.4	+	7	1176		c.e7+1			NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTCTTCCAACGTAAGTATAAA	0.353																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.e7+1		tubulointerstitial nephritis antigen							87.0	86.0	86.0					6																	54214695		2203	4300	6503	SO:0001630	splice_region_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54214695G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1080+1G>A	6.37:g.54214695G>A								NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		7	1176	+	Lung NSC(77;0.0518)							Q5T467|Q9UJW1|Q9ULZ4	Splice_Site	SNP	ENST00000259782.4	37		CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393474	0.42410	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7085	0.88315	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TINAG	54322654	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	8.071000	0.89494	2.785000	0.95823	0.591000	0.81541	.		0.353	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	Intron	14	23	0	0	0	1	0	14	23				
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097296C>T	ENST00000602269.1	-	2	939	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000422989.1_Missense_Mutation_p.A252T|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(754-756)Gct>Act		immunity-related GTPase family, Q							28.0	33.0	31.0					19																	44097296		2201	4298	6499	SO:0001583	missense	126298						protein binding	g.chr19:44097296C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.754G>A	19.37:g.44097296C>T	ENSP00000472250:p.Ala252Thr					IRGQ_ENST00000602269.1_Missense_Mutation_p.A252T	p.A252T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	909	-		Prostate(69;0.0199)	252					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.754G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849297	0.51270	.	.	ENSG00000167378	ENST00000422989	T	0.66460	-0.21	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.76842	0.4044	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.67360	-0.5690	10	0.66056	D	0.02	-20.4241	10.9344	0.47237	0.0:0.8108:0.1892:0.0	.	252	Q8WZA9	IRGQ_HUMAN	T	252	ENSP00000387535:A252T	ENSP00000387535:A252T	A	-	1	0	IRGQ	48789136	0.626000	0.27120	0.182000	0.23118	0.348000	0.29142	3.325000	0.52030	2.782000	0.95742	0.655000	0.94253	GCT		0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		12	14	0	0	0	1	0	12	14				
TTC7A	57217	broad.mit.edu	37	2	47184094	47184094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47184094G>A	ENST00000319190.5	+	3	833	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TTC7A_ENST00000394850.2_Silent_p.E155E|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR|RP11-15I20.1_ENST00000607950.1_RNA|TTC7A_ENST00000409245.1_Silent_p.E121E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	155					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTCCATGGAGAACAAGCCCC	0.577																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(463-465)gaG>gaA		tetratricopeptide repeat domain 7A							141.0	132.0	135.0					2																	47184094		2203	4300	6503	SO:0001819	synonymous_variant	57217						binding	g.chr2:47184094G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.465G>A	2.37:g.47184094G>A						TTC7A_ENST00000409245.1_Silent_p.E121E|TTC7A_ENST00000394850.2_Silent_p.E155E|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR	p.E155E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	833	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	155					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.465G>A	CCDS33193.1																																																																																				0.577	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		23	33	0	0	0	1	0	23	33				
ARAP3	64411	broad.mit.edu	37	5	141051471	141051471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141051471C>A	ENST00000239440.4	-	11	1727	c.1662G>T	c.(1660-1662)gaG>gaT	p.E554D	ARAP3_ENST00000513878.1_Missense_Mutation_p.E216D|ARAP3_ENST00000508305.1_Missense_Mutation_p.E476D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	554	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGTACTATCTCATTACTCC	0.602																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1660-1662)gaG>gaT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							128.0	119.0	122.0					5																	141051471		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051471C>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1662G>T	5.37:g.141051471C>A	ENSP00000239440:p.Glu554Asp					ARAP3_ENST00000508305.1_Missense_Mutation_p.E476D|ARAP3_ENST00000513878.1_Missense_Mutation_p.E216D	p.E554D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			11	1727	-			554			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1662G>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581199	0.46006	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.46063	0.88;0.88;0.88	3.47	0.452	0.16634	.	0.000000	0.64402	U	0.000001	T	0.42426	0.1202	L	0.47016	1.485	0.33299	D	0.564602	B;D;P	0.76494	0.4;0.999;0.928	B;P;P	0.57720	0.21;0.826;0.648	T	0.51172	-0.8739	10	0.44086	T	0.13	.	3.8169	0.08819	0.0:0.3696:0.1889:0.4416	.	216;476;554	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	D	476;554;216	ENSP00000421826:E476D;ENSP00000239440:E554D;ENSP00000421468:E216D	ENSP00000239440:E554D	E	-	3	2	ARAP3	141031655	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	0.796000	0.26986	0.165000	0.19558	0.563000	0.77884	GAG		0.602	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	65	1	0	0.27861	1	0.279982	7	65				
ODC1	4953	broad.mit.edu	37	2	10582301	10582301	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10582301C>A	ENST00000234111.4	-	9	1261		c.e9-1		ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Splice_Site	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1						cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CGCCGGTGATCTAAGAGAGTG	0.473																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.e9-1		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						49.0	53.0	51.0					2																	10582301		2203	4300	6503	SO:0001630	splice_region_variant	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582301C>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.751-1G>T	2.37:g.10582301C>A						ODC1_ENST00000405333.1_Splice_Site		NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	9	1261	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							Q53TU3|Q6LDS9	Splice_Site	SNP	ENST00000234111.4	37		CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093194	0.36952	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.006	0.71513	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODC1	10499752	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.501000	0.81600	2.817000	0.96982	0.563000	0.77884	.		0.473	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		Intron	7	42	1	0	0.0477658	1	0.0488009	7	42				
ZNF417	147687	broad.mit.edu	37	19	58420585	58420585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420585C>T	ENST00000312026.5	-	3	1225	c.1061G>A	c.(1060-1062)tGt>tAt	p.C354Y	ZNF417_ENST00000536263.1_Missense_Mutation_p.C155Y|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.C353Y	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACATTCCCCACAGTGATAAGC	0.428																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1060-1062)tGt>tAt		zinc finger protein 417							101.0	91.0	95.0					19																	58420585		2203	4292	6495	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420585C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1061G>A	19.37:g.58420585C>T	ENSP00000311319:p.Cys354Tyr					CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.C353Y|ZNF417_ENST00000536263.1_Missense_Mutation_p.C155Y	p.C354Y	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1225	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	354					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1061G>A	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.771346	0.49680	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	D;D	0.85088	-1.94;-1.94	2.21	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93400	0.7895	H	0.95611	3.695	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82770	-0.0293	9	0.87932	D	0	.	8.2097	0.31476	0.0:0.854:0.0:0.146	.	354;354	F5H0M9;Q8TAU3	.;ZN417_HUMAN	Y	354;155	ENSP00000311319:C354Y;ENSP00000442760:C155Y	ENSP00000311319:C354Y	C	-	2	0	ZNF417	63112397	0.992000	0.36948	0.018000	0.16275	0.333000	0.28666	4.695000	0.61767	1.243000	0.43853	0.306000	0.20318	TGT		0.428	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		13	148	0	0	0	1	0	13	148				
ILF2	3608	broad.mit.edu	37	1	153635710	153635710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153635710C>T	ENST00000361891.4	-	11	912	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	263	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGTTTAGGGCCAAAGGCTGT	0.423																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(787-789)Gcc>Acc		interleukin enhancer binding factor 2							193.0	189.0	190.0					1																	153635710		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153635710C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.787G>A	1.37:g.153635710C>T	ENSP00000355011:p.Ala263Thr					ILF2_ENST00000480213.1_5'UTR	p.A263T	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		11	912	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		263			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.787G>A	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547524	0.27652	.	.	ENSG00000143621	ENST00000361891	T	0.43688	0.94	5.13	5.13	0.70059	DZF (2);	0.118903	0.64402	D	0.000009	T	0.20088	0.0483	N	0.24115	0.695	0.80722	D	1	B;B	0.17852	0.02;0.024	B;B	0.23419	0.027;0.046	T	0.03287	-1.1052	10	0.42905	T	0.14	-8.4581	16.1271	0.81402	0.0:1.0:0.0:0.0	.	263;263	F4ZW62;Q12905	.;ILF2_HUMAN	T	263	ENSP00000355011:A263T	ENSP00000355011:A263T	A	-	1	0	ILF2	151902334	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.157000	0.50716	2.669000	0.90835	0.655000	0.94253	GCC		0.423	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		6	244	0	0	0	1	0	6	244				
SYT8	90019	broad.mit.edu	37	11	1857227	1857227	+	Intron	SNP	G	G	A	rs527698218	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1857227G>A	ENST00000381968.3	+	4	527				SYT8_ENST00000535046.1_Missense_Mutation_p.A276T|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000436964.2_Missense_Mutation_p.A124T|SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000341958.3_Intron	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII						acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGGGCCCCGCTGCGCAGGA	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		15713	0.0		0.0	False		,,,				2504	0.002					ENST00000535046.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(826-828)Gct>Act		synaptotagmin VIII							33.0	38.0	36.0					11																	1857227		2202	4299	6501	SO:0001627	intron_variant	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1857227G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.399+13G>A	11.37:g.1857227G>A						SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000381968.3_Intron|SYT8_ENST00000436964.2_Missense_Mutation_p.A124T|SYT8_ENST00000341958.3_Intron	p.A276T			Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	826	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	0			C2 2.		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.826G>A	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	13.61	2.288172	0.40494	.	.	ENSG00000149043	ENST00000436964;ENST00000535046	T;T	0.21191	2.14;2.02	2.59	-5.19	0.02832	.	.	.	.	.	T	0.13670	0.0331	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17410	-1.0370	8	0.62326	D	0.03	.	6.0717	0.19893	0.3904:0.2331:0.3765:0.0	.	124	C9JSK3	.	T	124;276	ENSP00000414626:A124T;ENSP00000443325:A276T	ENSP00000414626:A124T	A	+	1	0	SYT8	1813803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.894000	0.01607	-2.868000	0.00324	-1.026000	0.02426	GCT		0.672	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			12	28	0	0	0	1	0	12	28				
TPM1	7168	broad.mit.edu	37	15	63363318	63363318	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63363318C>A	ENST00000357980.4	+	10	1007	c.928C>A	c.(928-930)Ctt>Att	p.L310I	TPM1_ENST00000559556.1_Missense_Mutation_p.L268I|TPM1_ENST00000358278.3_Missense_Mutation_p.L268I|RP11-244F12.2_ENST00000558905.1_RNA|TPM1_ENST00000559397.1_Missense_Mutation_p.L268I|TPM1_ENST00000267996.7_Missense_Mutation_p.L268I|TPM1_ENST00000404484.4_Missense_Mutation_p.L232I			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	268					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						AGAAGAAAACCTTAGTATGCA	0.388																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(928-930)Ctt>Att		tropomyosin 1 (alpha)							143.0	132.0	136.0					15																	63363318		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63363318C>A	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000357980.4:c.928C>A	15.37:g.63363318C>A	ENSP00000350667:p.Leu310Ile					TPM1_ENST00000559397.1_Missense_Mutation_p.L268I|RP11-244F12.2_ENST00000558905.1_RNA|TPM1_ENST00000559556.1_Missense_Mutation_p.L268I|TPM1_ENST00000267996.7_Missense_Mutation_p.L268I|TPM1_ENST00000358278.3_Missense_Mutation_p.L268I|TPM1_ENST00000404484.4_Missense_Mutation_p.L232I	p.L310I			P09493	TPM1_HUMAN			10	1007	+			268					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000357980.4	37	c.928C>A		.	.	.	.	.	.	.	.	.	.	C	10.77	1.443581	0.25987	.	.	ENSG00000140416	ENST00000267996;ENST00000358278;ENST00000357980	D;D;D	0.97256	-4.31;-4.31;-4.31	6.02	6.02	0.97574	.	0.000000	0.47093	D	0.000260	D	0.95856	0.8651	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B	0.29341	0.006;0.242;0.079;0.001;0.075;0.01	B;B;B;B;B;B	0.36766	0.046;0.232;0.098;0.005;0.099;0.021	D	0.93788	0.7090	10	0.59425	D	0.04	0.0	12.7863	0.57507	0.0:0.9261:0.0:0.0739	.	232;310;268;268;268;268	B7Z722;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3	.;.;.;.;.;.	I	268;268;310	ENSP00000267996:L268I;ENSP00000351022:L268I;ENSP00000350667:L310I	ENSP00000267996:L268I	L	+	1	0	TPM1	61150371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.801000	0.55545	2.865000	0.98341	0.655000	0.94253	CTT		0.388	TPM1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000417087.2	NM_001018004		10	84	1	0	0.000978159	1	0.00105116	10	84				
AKNAD1	254268	broad.mit.edu	37	1	109392171	109392171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109392171C>T	ENST00000370001.3	-	3	1289	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	AKNAD1_ENST00000369994.1_Missense_Mutation_p.E341K|AKNAD1_ENST00000357393.4_Missense_Mutation_p.E48K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E341K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	341						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTGAGAAGTTCTTGGTGGATA	0.383																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1021-1023)Gaa>Aaa		AKNA domain containing 1							162.0	156.0	158.0					1																	109392171		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109392171C>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1021G>A	1.37:g.109392171C>T	ENSP00000359018:p.Glu341Lys					AKNAD1_ENST00000369994.1_Missense_Mutation_p.E341K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E341K|AKNAD1_ENST00000357393.4_Missense_Mutation_p.E48K	p.E341K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			3	1289	-			341					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1021G>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324424	0.60634	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.7	4.7	0.59300	.	0.334345	0.28371	N	0.015591	T	0.32526	0.0832	L	0.32530	0.975	0.29837	N	0.829555	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.07121	-1.0789	10	0.66056	D	0.02	-16.518	13.8587	0.63545	0.0:1.0:0.0:0.0	.	48;341	B4DET8;Q5T1N1	.;AKND1_HUMAN	K	341;48;341;341	ENSP00000359018:E341K;ENSP00000349968:E48K;ENSP00000359011:E341K;ENSP00000359012:E341K	ENSP00000349968:E48K	E	-	1	0	AKNAD1	109193694	0.998000	0.40836	0.958000	0.39756	0.440000	0.31957	3.290000	0.51755	2.536000	0.85505	0.561000	0.74099	GAA		0.383	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		75	66	0	0	0	1	0	75	66				
FAM214A	56204	broad.mit.edu	37	15	52900776	52900776	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52900776T>C	ENST00000261844.7	-	6	2487	c.2335A>G	c.(2335-2337)Aca>Gca	p.T779A	FAM214A_ENST00000546305.2_Missense_Mutation_p.T786A	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	779																	AATACCTCTGTATTTTTTGGT	0.318																																						ENST00000261844.7																			0											c.(2335-2337)Aca>Gca		family with sequence similarity 214, member A							126.0	121.0	122.0					15																	52900776		1805	4062	5867	SO:0001583	missense	56204							g.chr15:52900776T>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2335A>G	15.37:g.52900776T>C	ENSP00000261844:p.Thr779Ala					FAM214A_ENST00000546305.2_Missense_Mutation_p.T786A	p.T779A	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2487	-			779					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2335A>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	3.396	-0.123270	0.06795	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.30448	1.54;1.53	5.71	3.4	0.38934	.	0.392954	0.27202	N	0.020450	T	0.19087	0.0458	L	0.40543	1.245	0.26165	N	0.97994	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.004	T	0.32798	-0.9893	10	0.08179	T	0.78	.	5.6835	0.17790	0.0:0.2257:0.1439:0.6304	.	786;779	F5H8G0;Q32MH5	.;K1370_HUMAN	A	779;779;778;786	ENSP00000261844:T779A;ENSP00000443598:T786A	ENSP00000261844:T779A	T	-	1	0	KIAA1370	50688068	0.971000	0.33674	0.765000	0.31456	0.647000	0.38526	0.418000	0.21230	0.443000	0.26582	0.377000	0.23210	ACA		0.318	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		40	54	0	0	0	1	0	40	54				
ZSCAN22	342945	broad.mit.edu	37	19	58846361	58846361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58846361G>A	ENST00000329665.4	+	2	340	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	65	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGGTCCACACGAGGCCCTGGC	0.642																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(193-195)Gag>Aag		zinc finger and SCAN domain containing 22							64.0	61.0	62.0					19																	58846361		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58846361G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.193G>A	19.37:g.58846361G>A	ENSP00000332433:p.Glu65Lys						p.E65K	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	340	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	65			SCAN box.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.193G>A	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	8.796	0.931831	0.18131	.	.	ENSG00000182318	ENST00000329665	T	0.08634	3.07	4.01	-0.808	0.10868	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.09949	0.0244	M	0.71296	2.17	0.09310	N	1	B	0.25743	0.133	B	0.17433	0.018	T	0.24404	-1.0161	9	0.52906	T	0.07	.	7.4201	0.27067	0.1047:0.5373:0.358:0.0	.	65	P10073	ZSC22_HUMAN	K	65	ENSP00000332433:E65K	ENSP00000332433:E65K	E	+	1	0	ZSCAN22	63538173	0.844000	0.29557	0.011000	0.14972	0.093000	0.18481	1.137000	0.31479	0.101000	0.17610	-0.195000	0.12781	GAG		0.642	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		19	35	0	0	0	1	0	19	35				
DGKK	139189	broad.mit.edu	37	X	50144082	50144082	+	RNA	SNP	C	C	T	rs200145224		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144082C>T	ENST00000376025.2	-	0	1423							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R251H(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GACTGATGAGCGATGGCTTCT	0.488																																						ENST00000376025.2																			1	Substitution - Missense(1)	p.R251H(1)	endometrium(1)	central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							79.0	69.0	72.0					X																	50144082		1950	4134	6084			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50144082C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50144082C>T										Q5KSL6	DGKK_HUMAN			0	1423	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.488	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		10	4	0	0	0	1	0	10	4				
SRBD1	55133	broad.mit.edu	37	2	45800362	45800362	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45800362T>G	ENST00000263736.4	-	9	1351	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	430					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATGGTGAATGTTTCTTATGTT	0.333																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1288-1290)aAc>aCc		S1 RNA binding domain 1							115.0	113.0	114.0					2																	45800362		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45800362T>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1289A>C	2.37:g.45800362T>G	ENSP00000263736:p.Asn430Thr						p.N430T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		9	1351	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	430					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1289A>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	1.115	-0.656931	0.03480	.	.	ENSG00000068784	ENST00000263736	T	0.41758	0.99	5.34	1.46	0.22682	Tex-like domain (1);	0.158097	0.56097	N	0.000022	T	0.22322	0.0538	N	0.17631	0.505	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08554	-1.0716	10	0.17832	T	0.49	.	7.1221	0.25450	0.0:0.1292:0.2301:0.6406	.	430	Q8N5C6	SRBD1_HUMAN	T	430	ENSP00000263736:N430T	ENSP00000263736:N430T	N	-	2	0	SRBD1	45653866	1.000000	0.71417	0.989000	0.46669	0.467000	0.32768	1.005000	0.29834	-0.213000	0.10094	-2.436000	0.00213	AAC		0.333	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		17	23	0	0	0	1	0	17	23				
SPTBN1	6711	broad.mit.edu	37	2	54885015	54885015	+	Silent	SNP	C	C	T	rs144327595	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54885015C>T	ENST00000356805.4	+	30	6356	c.6075C>T	c.(6073-6075)gaC>gaT	p.D2025D	SPTBN1_ENST00000333896.5_Silent_p.D2012D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2025	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCTCAAGAGACGCCAGTGTGG	0.587											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6034-6036)gaC>gaT		spectrin, beta, non-erythrocytic 1		C	,	1,4405	2.1+/-5.4	0,1,2202	69.0	63.0	65.0		6075,6036	-2.5	1.0	2	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2025/2365,2012/2156	54885015	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54885015C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6075C>T	2.37:g.54885015C>T			OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1003	SPTBN1_ENST00000356805.4_Silent_p.D2025D	p.D2012D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		29	6421	+			2025			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.6036C>T	CCDS33198.1																																																																																				0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			14	32	0	0	0	1	0	14	32				
SOX13	9580	broad.mit.edu	37	1	204082138	204082138	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082138C>A	ENST00000367204.1	+	2	204	c.95C>A	c.(94-96)cCt>cAt	p.P32H	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	32					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAAAGAGCCTTGCCACGAG	0.647																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(94-96)cCt>cAt		SRY (sex determining region Y)-box 13							25.0	30.0	28.0					1																	204082138		1985	4163	6148	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204082138C>A		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.95C>A	1.37:g.204082138C>A	ENSP00000356172:p.Pro32His					SOX13_ENST00000367203.4_3'UTR	p.P32H	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	204	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		32					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.95C>A	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631201	0.46944	.	.	ENSG00000143842	ENST00000367204;ENST00000525442;ENST00000528591	D	0.97731	-4.51	5.67	2.42	0.29668	.	0.736431	0.12891	N	0.430614	D	0.95033	0.8392	L	0.43152	1.355	0.09310	N	1	B;P	0.41569	0.412;0.755	B;P	0.44946	0.09;0.465	D	0.90355	0.4369	10	0.87932	D	0	.	0.713	0.00927	0.1673:0.3553:0.1624:0.315	.	32;14	Q9UN79;Q5SXX2	SOX13_HUMAN;.	H	32	ENSP00000356172:P32H	ENSP00000356172:P32H	P	+	2	0	SOX13	202348761	0.000000	0.05858	0.003000	0.11579	0.642000	0.38348	0.727000	0.25999	0.745000	0.32763	0.585000	0.79938	CCT		0.647	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		12	15	1	0	2.27111e-07	1	2.66951e-07	12	15				
CDK14	5218	broad.mit.edu	37	7	90613515	90613515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90613515G>T	ENST00000380050.3	+	10	1131	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	CDK14_ENST00000436577.2_Nonsense_Mutation_p.G205*|CDK14_ENST00000265741.3_Nonsense_Mutation_p.G316*|CDK14_ENST00000406263.1_Nonsense_Mutation_p.G288*			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGCTTTTCCAGGAATGAAAGA	0.353																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(862-864)Gga>Tga		cyclin-dependent kinase 14							163.0	160.0	161.0					7																	90613515		2203	4300	6503	SO:0001587	stop_gained	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90613515G>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1000G>T	7.37:g.90613515G>T	ENSP00000369390:p.Gly334*					CDK14_ENST00000380050.3_Nonsense_Mutation_p.G334*|CDK14_ENST00000265741.3_Nonsense_Mutation_p.G316*|CDK14_ENST00000436577.2_Nonsense_Mutation_p.G205*	p.G288*			O94921	CDK14_HUMAN			9	1304	+			334			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Nonsense_Mutation	SNP	ENST00000380050.3	37	c.862G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.834593	0.98516	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.7955	19.1783	0.93612	0.0:0.0:1.0:0.0	.	.	.	.	X	334;316;288;205	.	ENSP00000265741:G316X	G	+	1	0	CDK14	90451451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.028000	0.93712	2.703000	0.92315	0.655000	0.94253	GGA		0.353	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		32	99	1	0	2.20262e-25	1	2.92873e-25	32	99				
STAM2	10254	broad.mit.edu	37	2	152988660	152988660	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152988660T>C	ENST00000263904.4	-	11	1342	c.993A>G	c.(991-993)ccA>ccG	p.P331P		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	331					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CATCTATCATTGGACCCATCT	0.313																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(991-993)ccA>ccG		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							77.0	80.0	79.0					2																	152988660		2202	4297	6499	SO:0001819	synonymous_variant	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152988660T>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.993A>G	2.37:g.152988660T>C							p.P331P	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	11	1342	-			331					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	ENST00000263904.4	37	c.993A>G	CCDS2196.1																																																																																				0.313	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		23	28	0	0	0	1	0	23	28				
ZKSCAN2	342357	broad.mit.edu	37	16	25263243	25263243	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25263243G>A	ENST00000328086.7	-	4	1595	c.792C>T	c.(790-792)aaC>aaT	p.N264N		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	264	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGGAGACCACGTTCCCAACAT	0.448																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(790-792)aaC>aaT		zinc finger with KRAB and SCAN domains 2							105.0	103.0	104.0					16																	25263243		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25263243G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.792C>T	16.37:g.25263243G>A							p.N264N	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	4	1595	-			264			KRAB.		A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.792C>T	CCDS32410.1																																																																																				0.448	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		33	47	0	0	0	1	0	33	47				
MKLN1	4289	broad.mit.edu	37	7	131073706	131073706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131073706G>A	ENST00000352689.6	+	4	415	c.375G>A	c.(373-375)atG>atA	p.M125I	MKLN1_ENST00000421797.2_Missense_Mutation_p.M33I|MKLN1_ENST00000429546.1_Missense_Mutation_p.M33I	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	125					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATGAACAGATGTTCCCTTGTC	0.313																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(373-375)atG>atA		muskelin 1, intracellular mediator containing kelch motifs							62.0	62.0	62.0					7																	131073706		2202	4295	6497	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131073706G>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.375G>A	7.37:g.131073706G>A	ENSP00000323527:p.Met125Ile					MKLN1_ENST00000421797.2_Missense_Mutation_p.M33I|MKLN1_ENST00000429546.1_Missense_Mutation_p.M33I	p.M125I	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			4	415	+	Melanoma(18;0.162)		125					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.375G>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456943	0.43634	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	T;D;D;D	0.97161	2.04;-4.27;-4.27;-4.27	5.73	5.73	0.89815	Muskelin, N-terminal (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	D	0.88677	0.3199	10	0.22109	T	0.4	-12.7669	18.8866	0.92381	0.0:0.0:1.0:0.0	.	125;102;33	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	I	33;33;33;33;125	ENSP00000398094:M33I;ENSP00000399954:M33I;ENSP00000412815:M33I;ENSP00000323527:M125I	ENSP00000323527:M125I	M	+	3	0	MKLN1	130724246	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.788000	0.99064	2.708000	0.92522	0.650000	0.86243	ATG		0.313	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		4	45	0	0	0	1	0	4	45				
TLN2	83660	broad.mit.edu	37	15	63055879	63055879	+	Silent	SNP	C	C	T	rs370731939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63055879C>T	ENST00000561311.1	+	39	5309	c.5079C>T	c.(5077-5079)gaC>gaT	p.D1693D	TLN2_ENST00000306829.6_Silent_p.D1693D|TLN2_ENST00000472902.1_Silent_p.D86D			Q9Y4G6	TLN2_HUMAN	talin 2	1693					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCACGAGGGACGACATCTCTG	0.572																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5077-5079)gaC>gaT		talin 2							28.0	26.0	27.0					15																	63055879		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63055879C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5079C>T	15.37:g.63055879C>T						TLN2_ENST00000472902.1_Silent_p.D86D|TLN2_ENST00000306829.6_Silent_p.D1693D	p.D1693D			Q9Y4G6	TLN2_HUMAN			39	5309	+			1693					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5079C>T	CCDS32261.1																																																																																				0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			9	9	0	0	0	1	0	9	9				
EBAG9	9166	broad.mit.edu	37	8	110569236	110569236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110569236G>T	ENST00000337573.5	+	5	694	c.394G>T	c.(394-396)Gca>Tca	p.A132S	EBAG9_ENST00000531677.1_Missense_Mutation_p.A132S|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.A132S	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	132					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TAGTAGATTAGCAGCTACACA	0.343																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(394-396)Gca>Tca		estrogen receptor binding site associated, antigen, 9							112.0	104.0	107.0					8																	110569236		2203	4298	6501	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110569236G>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.394G>T	8.37:g.110569236G>T	ENSP00000337675:p.Ala132Ser					EBAG9_ENST00000395785.2_Missense_Mutation_p.A132S|EBAG9_ENST00000531677.1_Missense_Mutation_p.A132S|EBAG9_ENST00000529502.1_3'UTR	p.A132S	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		5	694	+			132					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.394G>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553661	0.45487	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.86	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	N	0.16656	0.425	0.80722	D	1	B	0.31193	0.312	B	0.25884	0.064	T	0.13926	-1.0491	9	0.18276	T	0.48	-15.2541	14.3956	0.67007	0.0706:0.0:0.9294:0.0	.	132	O00559	RCAS1_HUMAN	S	132;35;132;132;132	.	ENSP00000337675:A132S	A	+	1	0	EBAG9	110638412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.110000	0.94302	1.628000	0.50416	0.650000	0.86243	GCA		0.343	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		6	30	1	0	0.0293803	1	0.0301098	6	30				
AKAP9	10142	broad.mit.edu	37	7	91690677	91690677	+	Missense_Mutation	SNP	G	G	A	rs369082700		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91690677G>A	ENST00000359028.2	+	24	5966	c.5741G>A	c.(5740-5742)cGc>cAc	p.R1914H	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1914H|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1902H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1914	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCGAGAGCGCCTTCATGAG	0.483			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5740-5742)cGc>cAc		A kinase (PRKA) anchor protein 9		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	80.0	75.0	77.0		5705,5705	5.7	1.0	7		77	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	AKAP9	NM_005751.4,NM_147185.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1902/3908,1902/3900	91690677	2,13004	2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91690677G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5741G>A	7.37:g.91690677G>A	ENSP00000351922:p.Arg1914His					AKAP9_ENST00000358100.2_Missense_Mutation_p.R1914H|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1902H	p.R1914H			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		24	5966	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1914			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5741G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.213555	0.79352	0.0	2.33E-4	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.04970	3.53;3.54;3.52	5.69	5.69	0.88448	.	0.000000	0.40144	N	0.001171	T	0.29223	0.0727	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.00325	-1.1816	10	0.62326	D	0.03	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	1914;1902;1902	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	H	1902;1914;1914;1914;117	ENSP00000348573:R1902H;ENSP00000351922:R1914H;ENSP00000350813:R1914H	ENSP00000265737:R117H	R	+	2	0	AKAP9	91528613	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.034000	0.70933	2.840000	0.97914	0.655000	0.94253	CGC		0.483	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		28	47	0	0	0	1	0	28	47				
WBP1L	54838	broad.mit.edu	37	10	104573026	104573026	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104573026C>T	ENST00000369889.4	+	4	1109	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	WBP1L_ENST00000448841.1_Silent_p.L344L	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	323						integral component of membrane (GO:0016021)											CGCATGCCTGCTGCTGAACAC	0.652																																						ENST00000369889.4																			0											c.(967-969)Ctg>Ttg		WW domain binding protein 1-like							21.0	25.0	23.0					10																	104573026		2202	4293	6495	SO:0001819	synonymous_variant	54838					integral to membrane		g.chr10:104573026C>T	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"""outcome predictor in acute leukemia 1"""	611129	"""chromosome 10 open reading frame 26"""	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.967C>T	10.37:g.104573026C>T						WBP1L_ENST00000448841.1_Silent_p.L344L	p.L323L	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN			4	1109	+			323					B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Silent	SNP	ENST00000369889.4	37	c.967C>T	CCDS7540.1																																																																																				0.652	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		3	22	0	0	0	1	0	3	22				
PIK3C2A	5286	broad.mit.edu	37	11	17190992	17190992	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190992T>C	ENST00000265970.7	-	1	296	c.297A>G	c.(295-297)gaA>gaG	p.E99E	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	99	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GTTTCTCAAGTTCAGCTTGGG	0.383																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(295-297)gaA>gaG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						169.0	166.0	167.0					11																	17190992		2200	4293	6493	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190992T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.297A>G	11.37:g.17190992T>C						PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.E99E	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	296	-			99			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.297A>G	CCDS7824.1																																																																																				0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		11	170	0	0	0	1	0	11	170				
OGDH	4967	broad.mit.edu	37	7	44747186	44747186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44747186G>A	ENST00000222673.5	+	22	2844	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OGDH_ENST00000543843.1_Silent_p.S885S|OGDH_ENST00000449767.1_Silent_p.S930S|OGDH_ENST00000444676.1_Silent_p.S949S|OGDH_ENST00000439616.2_Silent_p.S784S|OGDH_ENST00000447398.1_Silent_p.S945S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	934					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCTAGCTGTCGCCATTCCCCT	0.552																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2800-2802)tcG>tcA		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						125.0	114.0	117.0					7																	44747186		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747186G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2802G>A	7.37:g.44747186G>A						OGDH_ENST00000449767.1_Silent_p.S930S|OGDH_ENST00000439616.2_Silent_p.S784S|OGDH_ENST00000444676.1_Silent_p.S949S|OGDH_ENST00000447398.1_Silent_p.S945S|OGDH_ENST00000543843.1_Silent_p.S885S	p.S934S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			22	2844	+			934					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2802G>A	CCDS34627.1																																																																																				0.552	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			76	64	0	0	0	1	0	76	64				
GPRASP2	114928	broad.mit.edu	37	X	101971332	101971332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971332G>A	ENST00000535209.1	+	4	2366	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	GPRASP2_ENST00000543253.1_Missense_Mutation_p.S512N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S512N			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	512						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CGATCCACAAGCCCCTTTGGA	0.512																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1534-1536)aGc>aAc		G protein-coupled receptor associated sorting protein 2							67.0	65.0	65.0					X																	101971332		2203	4299	6502	SO:0001583	missense	114928							g.chrX:101971332G>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1535G>A	X.37:g.101971332G>A	ENSP00000437394:p.Ser512Asn					GPRASP2_ENST00000535209.1_Missense_Mutation_p.S512N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S512N	p.S512N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2454	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1535G>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.555858	0.00918	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07327	3.2;3.2;3.2	4.44	-1.75	0.08031	.	0.623042	0.15282	N	0.270642	T	0.04092	0.0114	N	0.25201	0.72	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.42999	-0.9418	10	0.18710	T	0.47	.	4.4141	0.11447	0.3971:0.308:0.2949:0.0	.	512	Q96D09	GASP2_HUMAN	N	512	ENSP00000437872:S512N;ENSP00000437394:S512N;ENSP00000339057:S512N	ENSP00000339057:S512N	S	+	2	0	GPRASP2	101857988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.788000	0.04614	-0.556000	0.06134	-0.881000	0.02953	AGC		0.512	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		12	100	0	0	0	1	0	12	100				
TSC2	7249	broad.mit.edu	37	16	2125816	2125816	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2125816G>A	ENST00000219476.3	+	23	3192	c.2562G>A	c.(2560-2562)ccG>ccA	p.P854P	TSC2_ENST00000382538.6_Silent_p.P805P|TSC2_ENST00000439673.2_Silent_p.P817P|TSC2_ENST00000568454.1_Silent_p.P865P|TSC2_ENST00000353929.4_Silent_p.P854P|TSC2_ENST00000350773.4_Silent_p.P854P|TSC2_ENST00000401874.2_Silent_p.P854P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	854					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGGCTGCCGCACCTCTACA	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2560-2562)ccG>ccA		tuberous sclerosis 2							70.0	53.0	59.0					16																	2125816		2198	4299	6497	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2125816G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2562G>A	16.37:g.2125816G>A						TSC2_ENST00000401874.2_Silent_p.P854P|TSC2_ENST00000568454.1_Silent_p.P865P|TSC2_ENST00000350773.4_Silent_p.P854P|TSC2_ENST00000382538.6_Silent_p.P805P|TSC2_ENST00000439673.2_Silent_p.P817P|TSC2_ENST00000353929.4_Silent_p.P854P	p.P854P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			23	3192	+		Hepatocellular(780;0.0202)	854					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.2562G>A	CCDS10458.1																																																																																				0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		20	23	0	0	0	1	0	20	23				
TEX14	56155	broad.mit.edu	37	17	56688591	56688591	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56688591C>T	ENST00000240361.8	-	10	1218	c.1133G>A	c.(1132-1134)aGc>aAc	p.S378N	TEX14_ENST00000389934.3_Missense_Mutation_p.S372N|TEX14_ENST00000349033.5_Missense_Mutation_p.S372N			Q8IWB6	TEX14_HUMAN	testis expressed 14	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCATAGGAGCTGAGGGAGCG	0.532																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1114-1116)aGc>aAc		testis expressed 14							160.0	138.0	145.0					17																	56688591		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56688591C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1133G>A	17.37:g.56688591C>T	ENSP00000240361:p.Ser378Asn					TEX14_ENST00000349033.5_Missense_Mutation_p.S372N|TEX14_ENST00000240361.8_Missense_Mutation_p.S378N	p.S372N	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			10	1232	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		378			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.1115G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099690	0.76983	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.42131	0.98;0.98;0.98	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.069551	0.64402	D	0.000009	T	0.49695	0.1572	L	0.33189	0.99	0.34224	D	0.675755	D;P;P	0.54964	0.969;0.93;0.93	P;P;P	0.62298	0.9;0.839;0.839	T	0.61544	-0.7041	10	0.54805	T	0.06	-14.5726	12.8203	0.57690	0.0:0.7295:0.2705:0.0	.	378;372;372	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	N	378;372;372	ENSP00000240361:S378N;ENSP00000374584:S372N;ENSP00000268910:S372N	ENSP00000240361:S378N	S	-	2	0	TEX14	54043590	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.477000	0.45180	2.514000	0.84764	0.462000	0.41574	AGC		0.532	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			57	96	0	0	0	1	0	57	96				
RBP3	5949	broad.mit.edu	37	10	48389680	48389680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48389680C>T	ENST00000224600.4	-	1	1311	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	400	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCGTCGGGCGCGGGCCAAGAA	0.642																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1198-1200)Gcg>Acg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						31.0	34.0	33.0					10																	48389680		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389680C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1198G>A	10.37:g.48389680C>T	ENSP00000224600:p.Ala400Thr						p.A400T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1311	-			400			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1198G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.398430	0.01175	.	.	ENSG00000107618	ENST00000224600	T	0.63255	-0.03	0.96	-1.57	0.08506	.	.	.	.	.	T	0.29256	0.0728	N	0.08118	0	0.09310	N	1	P	0.43857	0.819	B	0.32393	0.145	T	0.20638	-1.0269	9	0.40728	T	0.16	.	3.7331	0.08500	0.0:0.5131:0.4869:0.0	.	400	P10745	RET3_HUMAN	T	400	ENSP00000224600:A400T	ENSP00000224600:A400T	A	-	1	0	RBP3	48009686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.212000	0.17497	0.202000	0.20498	0.205000	0.17691	GCG		0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		12	26	0	0	0	1	0	12	26				
KIF15	56992	broad.mit.edu	37	3	44893799	44893799	+	Nonsense_Mutation	SNP	C	C	T	rs371580083		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44893799C>T	ENST00000326047.4	+	34	4221	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.R993*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1358					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTACGTAGTGCGACTAAAGAA	0.358																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(4072-4074)Cga>Tga		kinesin family member 15		C	stop/ARG	0,4406		0,0,2203	103.0	101.0	102.0		4072	4.9	1.0	3		102	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KIF15	NM_020242.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1358/1389	44893799	1,13005	2203	4300	6503	SO:0001587	stop_gained	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44893799C>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.4072C>T	3.37:g.44893799C>T	ENSP00000324020:p.Arg1358*					KIF15_ENST00000425755.1_Nonsense_Mutation_p.R993*	p.R1358*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	34	4221	+			1358					Q17RV9|Q69YL6|Q96JX7|Q9H280	Nonsense_Mutation	SNP	ENST00000326047.4	37	c.4072C>T	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148802	0.78001	0.0	1.16E-4	ENSG00000163808	ENST00000326047;ENST00000425755	.	.	.	5.86	4.91	0.64330	.	0.182929	0.26851	N	0.022163	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	11.5623	0.50785	0.3845:0.6155:0.0:0.0	.	.	.	.	X	1358;993	.	ENSP00000324020:R1358X	R	+	1	2	KIF15	44868803	1.000000	0.71417	0.979000	0.43373	0.967000	0.64934	3.168000	0.50801	2.775000	0.95449	0.655000	0.94253	CGA		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			15	37	0	0	0	1	0	15	37				
PRDM15	63977	broad.mit.edu	37	21	43221566	43221566	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43221566G>T	ENST00000269844.3	-	31	4468	c.4358C>A	c.(4357-4359)tCc>tAc	p.S1453Y	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.S1144Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.S1107Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.S1124Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.S1087Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGCGTGATGGAGTTGACCAG	0.637																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3430-3432)tCc>tAc		PR domain containing 15							97.0	82.0	87.0					21																	43221566		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221566G>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4358C>A	21.37:g.43221566G>T	ENSP00000269844:p.Ser1453Tyr					PRDM15_ENST00000447207.2_Missense_Mutation_p.S1087Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.S1107Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.S1453Y|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.S1124Y	p.S1144Y			P57071	PRD15_HUMAN			25	3532	-			1453					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.3431C>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.240019	0.79912	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.12255	2.85;2.84;2.87;2.85;2.7	4.39	4.39	0.52855	.	.	.	.	.	T	0.22205	0.0535	N	0.24115	0.695	0.53005	D	0.999969	D;D;D	0.71674	0.998;0.99;0.989	P;P;P	0.61940	0.896;0.758;0.768	T	0.05257	-1.0896	9	0.87932	D	0	-30.2088	15.9821	0.80116	0.0:0.0:1.0:0.0	.	1453;1144;1124	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	1144;1124;1107;1087;1453	ENSP00000408592:S1144Y;ENSP00000381556:S1124Y;ENSP00000444044:S1107Y;ENSP00000390245:S1087Y;ENSP00000269844:S1453Y	ENSP00000269844:S1453Y	S	-	2	0	PRDM15	42094635	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.859000	0.92264	1.982000	0.57802	0.457000	0.33378	TCC		0.637	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		35	44	1	0	6.50621e-10	1	7.96667e-10	35	44				
IGSF3	3321	broad.mit.edu	37	1	117156618	117156618	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117156618C>A	ENST00000369486.3	-	4	1366	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	IGSF3_ENST00000318837.6_Missense_Mutation_p.D201Y|IGSF3_ENST00000369483.1_Missense_Mutation_p.D201Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	201	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCATGAAATCTCGGCTCAGG	0.612																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(601-603)Gat>Tat		immunoglobulin superfamily, member 3							55.0	57.0	56.0					1																	117156618		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117156618C>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.601G>T	1.37:g.117156618C>A	ENSP00000358498:p.Asp201Tyr					IGSF3_ENST00000369483.1_Missense_Mutation_p.D201Y|IGSF3_ENST00000318837.6_Missense_Mutation_p.D201Y	p.D201Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	4	1366	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	201			Ig-like C2-type 2.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.601G>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550062	0.65311	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.65732	-0.17;-0.17;-0.17	5.02	4.11	0.48088	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.052394	0.85682	D	0.000000	T	0.66742	0.2820	M	0.71036	2.16	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.73380	0.969;0.98	T	0.71543	-0.4561	10	0.87932	D	0	-39.3907	7.5989	0.28065	0.0:0.8128:0.0:0.1872	.	201;201	O75054;A6NJZ6	IGSF3_HUMAN;.	Y	201	ENSP00000358498:D201Y;ENSP00000358495:D201Y;ENSP00000321184:D201Y	ENSP00000321184:D201Y	D	-	1	0	IGSF3	116958141	1.000000	0.71417	0.755000	0.31263	0.882000	0.50991	5.627000	0.67784	1.338000	0.45544	0.650000	0.86243	GAT		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		5	53	1	0	0.000602214	1	0.000649039	5	53				
ADCY10	55811	broad.mit.edu	37	1	167825527	167825527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167825527C>T	ENST00000367851.4	-	17	2231	c.2047G>A	c.(2047-2049)Gcc>Acc	p.A683T	ADCY10_ENST00000545172.1_Missense_Mutation_p.A530T|ADCY10_ENST00000367848.1_Missense_Mutation_p.A591T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	683					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACGGCCCTGGCAGCTGCACAG	0.473																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1771-1773)Gcc>Acc		adenylate cyclase 10 (soluble)							225.0	198.0	207.0					1																	167825527		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167825527C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2047G>A	1.37:g.167825527C>T	ENSP00000356825:p.Ala683Thr					ADCY10_ENST00000367851.4_Missense_Mutation_p.A683T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A530T	p.A591T			Q96PN6	ADCYA_HUMAN			17	2268	-			683					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1771G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228942	0.58777	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.34859	1.34;1.35;1.34	5.55	5.55	0.83447	.	0.298816	0.29015	N	0.013405	T	0.50956	0.1646	M	0.74881	2.28	0.31393	N	0.677609	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.47861	-0.9084	9	0.33940	T	0.23	-13.153	15.0199	0.71621	0.0:1.0:0.0:0.0	.	530;591;683	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	T	530;683;591	ENSP00000441992:A530T;ENSP00000356825:A683T;ENSP00000356822:A591T	ENSP00000356822:A591T	A	-	1	0	ADCY10	166092151	0.987000	0.35691	0.669000	0.29828	0.224000	0.24922	3.958000	0.56737	2.614000	0.88457	0.563000	0.77884	GCC		0.473	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		79	100	0	0	0	1	0	79	100				
LRIT3	345193	broad.mit.edu	37	4	110791385	110791385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791385A>G	ENST00000594814.1	+	4	1480	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G	LRIT3_ENST00000379920.3_Missense_Mutation_p.S449G|LRIT3_ENST00000409621.2_Missense_Mutation_p.S311G|LRIT3_ENST00000327908.3_Missense_Mutation_p.S311G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	494	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.		S -> T (in one non-syndromic craniosynostosis patient; unknown pathological significance). {ECO:0000269|PubMed:22673519}.		regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGGGTGGTCAGTGAGACTAA	0.458																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(931-933)Agt>Ggt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							130.0	120.0	124.0					4																	110791385		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791385A>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1480A>G	4.37:g.110791385A>G	ENSP00000469759:p.Ser494Gly					LRIT3_ENST00000409621.2_Missense_Mutation_p.S311G|LRIT3_ENST00000594814.1_Missense_Mutation_p.S494G|LRIT3_ENST00000379920.3_Missense_Mutation_p.S449G	p.S311G			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1695	+			449					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.931A>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.171194	0.01660	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.30714	1.52;1.52;1.52	5.06	2.59	0.31030	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.467007	0.26935	N	0.021742	T	0.10465	0.0256	N	0.03608	-0.345	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.11329	0.002;0.006	T	0.36089	-0.9762	10	0.06891	T	0.86	.	7.0826	0.25239	0.6335:0.2909:0.0755:0.0	.	449;311	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	311;449;311	ENSP00000328222:S311G;ENSP00000369252:S449G;ENSP00000386734:S311G	ENSP00000328222:S311G	S	+	1	0	LRIT3	111010834	0.562000	0.26586	0.017000	0.16124	0.876000	0.50452	2.175000	0.42491	0.262000	0.21774	0.533000	0.62120	AGT		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		9	80	0	0	0	1	0	9	80				
CRY1	1407	broad.mit.edu	37	12	107395143	107395143	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395143A>C	ENST00000008527.5	-	5	1466	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	200					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATCTGTATCAAAACCTACAAG	0.348																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(598-600)tTt>tGt		cryptochrome 1 (photolyase-like)							83.0	85.0	85.0					12																	107395143		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107395143A>C	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.599T>G	12.37:g.107395143A>C	ENSP00000008527:p.Phe200Cys						p.F200C	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			5	1466	-			200						Missense_Mutation	SNP	ENST00000008527.5	37	c.599T>G	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800591	0.50315	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.72	5.72	0.89469	DNA photolyase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.88377	2.95	0.80722	D	1	P	0.36683	0.565	B	0.35931	0.214	T	0.73820	-0.3862	9	0.72032	D	0.01	-18.8542	11.8522	0.52417	0.9301:0.0:0.0699:0.0	.	200	Q16526	CRY1_HUMAN	C	200	.	ENSP00000008527:F200C	F	-	2	0	CRY1	105919273	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	7.256000	0.78350	2.176000	0.68965	0.455000	0.32223	TTT		0.348	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		19	37	0	0	0	1	0	19	37				
ITGAV	3685	broad.mit.edu	37	2	187495528	187495528	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187495528T>A	ENST00000261023.3	+	5	802	c.528T>A	c.(526-528)gaT>gaA	p.D176E	ITGAV_ENST00000433736.2_Missense_Mutation_p.D130E|ITGAV_ENST00000374907.3_Intron	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	176					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTTAGAAGATATTGATGCTG	0.294																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(526-528)gaT>gaA		integrin, alpha V							212.0	221.0	218.0					2																	187495528		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187495528T>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.528T>A	2.37:g.187495528T>A	ENSP00000261023:p.Asp176Glu					ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.D130E	p.D176E	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	5	802	+			176					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.528T>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156356	0.38119	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000433736	T;D	0.91631	0.4;-2.88	5.97	4.83	0.62350	.	.	.	.	.	D	0.83792	0.5331	N	0.16743	0.435	0.23984	N	0.996265	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.70773	-0.4781	9	0.30854	T	0.27	.	8.2091	0.31473	0.0:0.139:0.0:0.861	.	130;176	E7EWZ6;P06756	.;ITAV_HUMAN	E	176;176;130	ENSP00000261023:D176E;ENSP00000404291:D130E	ENSP00000261023:D176E	D	+	3	2	ITGAV	187203773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.041000	0.41213	2.288000	0.76882	0.533000	0.62120	GAT		0.294	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		18	185	0	0	0	1	0	18	185				
AHI1	54806	broad.mit.edu	37	6	135732581	135732581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135732581G>A	ENST00000367800.4	-	19	3082	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	AHI1_ENST00000457866.2_Missense_Mutation_p.P956S|AHI1_ENST00000417892.2_Missense_Mutation_p.P310S|AHI1_ENST00000327035.6_Missense_Mutation_p.P956S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	956					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGATGGGGTAGTTTTGGA	0.428																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(2866-2868)Ccc>Tcc		Abelson helper integration site 1							147.0	140.0	142.0					6																	135732581		1863	4105	5968	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135732581G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2866C>T	6.37:g.135732581G>A	ENSP00000356774:p.Pro956Ser					AHI1_ENST00000457866.2_Missense_Mutation_p.P956S|AHI1_ENST00000327035.6_Missense_Mutation_p.P956S|AHI1_ENST00000417892.2_Missense_Mutation_p.P310S	p.P956S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	19	3082	-	Breast(56;0.239)|Colorectal(23;0.24)		956					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.2866C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797745	0.70567	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.69	5.69	0.88448	.	0.392722	0.29396	N	0.012274	T	0.41373	0.1156	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.985	D;D;P	0.87578	0.998;0.996;0.728	T	0.43475	-0.9389	10	0.22109	T	0.4	-11.2838	15.3115	0.74035	0.0:0.0:1.0:0.0	.	956;956;956	Q8N157-2;Q8N157;Q4FD35	.;AHI1_HUMAN;.	S	956;956;310;956;956;956	ENSP00000356774:P956S;ENSP00000388650:P956S;ENSP00000416867:P310S;ENSP00000265602:P956S;ENSP00000322478:P956S	ENSP00000265602:P956S	P	-	1	0	AHI1	135774274	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.207000	0.51106	2.660000	0.90430	0.655000	0.94253	CCC		0.428	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		29	57	0	0	0	1	0	29	57				
SMURF2	64750	broad.mit.edu	37	17	62557707	62557707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62557707C>A	ENST00000262435.9	-	12	1414	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	SMURF2_ENST00000578200.1_5'UTR	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	409					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTTCATGACCTGTCGATATG	0.373																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(1225-1227)caG>caT		SMAD specific E3 ubiquitin protein ligase 2							106.0	94.0	98.0					17																	62557707		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62557707C>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1227G>T	17.37:g.62557707C>A	ENSP00000262435:p.Gln409His					SMURF2_ENST00000578200.1_5'UTR	p.Q409H	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		12	1414	-	Breast(5;1.32e-14)		409					Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.1227G>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346864	0.24426	.	.	ENSG00000108854	ENST00000262435	T	0.76578	-1.03	4.82	-0.0109	0.13994	HECT (1);	0.000000	0.85682	D	0.000000	D	0.84732	0.5537	M	0.81497	2.545	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.82186	-0.0582	10	0.62326	D	0.03	.	7.3096	0.26467	0.0:0.3499:0.0:0.6501	.	409	Q9HAU4	SMUF2_HUMAN	H	409	ENSP00000262435:Q409H	ENSP00000262435:Q409H	Q	-	3	2	SMURF2	59988169	0.978000	0.34361	1.000000	0.80357	0.989000	0.77384	0.165000	0.16564	0.176000	0.19873	0.563000	0.77884	CAG		0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		16	29	1	0	0.0242445	1	0.0249276	16	29				
FAT2	2196	broad.mit.edu	37	5	150945768	150945768	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945768T>C	ENST00000261800.5	-	1	2737	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	909	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGGTCAGTGACAGAGAAG	0.562																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(2725-2727)Act>Gct		FAT atypical cadherin 2							78.0	68.0	71.0					5																	150945768		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945768T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2725A>G	5.37:g.150945768T>C	ENSP00000261800:p.Thr909Ala						p.T909A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2737	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	909			Cadherin 7.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.2725A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355525	0.41700	.	.	ENSG00000086570	ENST00000261800	T	0.51817	0.69	5.67	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.46444	0.1393	N	0.21282	0.65	0.40365	D	0.979282	D	0.58620	0.983	D	0.64595	0.927	T	0.36553	-0.9743	10	0.13853	T	0.58	.	8.8377	0.35121	0.0:0.1439:0.0:0.8561	.	909	Q9NYQ8	FAT2_HUMAN	A	909	ENSP00000261800:T909A	ENSP00000261800:T909A	T	-	1	0	FAT2	150925961	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	1.134000	0.31442	0.988000	0.38734	0.459000	0.35465	ACT		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		13	31	0	0	0	1	0	13	31				
CRYGN	155051	broad.mit.edu	37	7	151133382	151133382	+	Silent	SNP	G	G	A	rs113942095	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151133382G>A	ENST00000337323.2	-	3	426	c.300C>T	c.(298-300)ttC>ttT	p.F100F	MIR3907_ENST00000579424.1_RNA|RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Intron	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	100	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		17850	0.0		0.0	False		,,,				2504	0.0					ENST00000337323.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8						c.(298-300)ttC>ttT		crystallin, gamma N		G		8,4398	14.3+/-33.2	0,8,2195	69.0	66.0	67.0		300	2.0	1.0	7	dbSNP_132	67	0,8600		0,0,4300	no	coding-synonymous	CRYGN	NM_144727.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		100/183	151133382	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	155051							g.chr7:151133382G>A	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.300C>T	7.37:g.151133382G>A						RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	p.F100F	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	426	-			100			Beta/gamma crystallin 'Greek key' 3.		Q496G6	Silent	SNP	ENST00000337323.2	37	c.300C>T	CCDS5926.1																																																																																				0.537	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			19	47	0	0	0	1	0	19	47				
ATG9A	79065	broad.mit.edu	37	2	220089566	220089566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220089566G>A	ENST00000409618.1	-	8	966	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ATG9A_ENST00000361242.4_Missense_Mutation_p.P176L|ATG9A_ENST00000488833.1_5'Flank|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Missense_Mutation_p.P115L|ATG9A_ENST00000396761.2_Missense_Mutation_p.P176L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	176					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGCAATACGGAAGGGCAGA	0.567																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(526-528)cCg>cTg		autophagy related 9A							55.0	53.0	54.0					2																	220089566		1982	4132	6114	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089566G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.527C>T	2.37:g.220089566G>A	ENSP00000386710:p.Pro176Leu					ATG9A_ENST00000396761.2_Missense_Mutation_p.P176L|ATG9A_ENST00000409422.1_Missense_Mutation_p.P115L|ATG9A_ENST00000361242.4_Missense_Mutation_p.P176L	p.P176L			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	966	-		Renal(207;0.0474)	176					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.527C>T	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415976	0.42817	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715;ENST00000436856	T;T;T;T;T	0.42900	1.93;1.93;1.93;1.53;0.96	5.28	5.28	0.74379	.	0.104038	0.64402	D	0.000002	T	0.45756	0.1358	L	0.52364	1.645	0.80722	D	1	P	0.52061	0.95	P	0.45913	0.497	T	0.38436	-0.9661	10	0.38643	T	0.18	.	18.5131	0.90925	0.0:0.0:1.0:0.0	.	176	Q7Z3C6	ATG9A_HUMAN	L	176;176;176;115;80;176	ENSP00000379983:P176L;ENSP00000386710:P176L;ENSP00000355173:P176L;ENSP00000386535:P115L;ENSP00000401530:P176L	ENSP00000355173:P176L	P	-	2	0	ATG9A	219797810	1.000000	0.71417	0.948000	0.38648	0.967000	0.64934	7.815000	0.86186	2.449000	0.82847	0.655000	0.94253	CCG		0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		18	25	0	0	0	1	0	18	25				
SLC22A20	440044	broad.mit.edu	37	11	65000723	65000723	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65000723G>A	ENST00000525437.1	+	0	1184							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TCAACACCCCGGCCATGCTGG	0.602																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															42.0	45.0	44.0					11																	65000723		1928	4124	6052			0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65000723G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65000723G>A										A6NK97	S22AK_HUMAN			0	1184	+								B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.602	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		3	38	0	0	0	1	0	3	38				
FAT4	79633	broad.mit.edu	37	4	126239717	126239717	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126239717C>T	ENST00000394329.3	+	1	2164	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	717	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGACCCAGACTTGGGTACCA	0.488																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2149-2151)gaC>gaT		FAT atypical cadherin 4							73.0	75.0	75.0					4																	126239717		2009	4186	6195	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239717C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2151C>T	4.37:g.126239717C>T							p.D717D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2164	+			717			Cadherin 7.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.2151C>T	CCDS3732.3																																																																																				0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	43	0	0	0	1	0	18	43				
EXPH5	23086	broad.mit.edu	37	11	108381794	108381794	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108381794C>T	ENST00000265843.4	-	6	4550	c.4440G>A	c.(4438-4440)caG>caA	p.Q1480Q	EXPH5_ENST00000525344.1_Silent_p.Q1473Q|EXPH5_ENST00000443411.1_Silent_p.Q1292Q|EXPH5_ENST00000428840.1_Silent_p.Q1404Q|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1480					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCCCTAGGCTGTGATCCAC	0.483																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4438-4440)caG>caA		exophilin 5							67.0	55.0	59.0					11																	108381794		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381794C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4440G>A	11.37:g.108381794C>T						EXPH5_ENST00000428840.1_Silent_p.Q1404Q|EXPH5_ENST00000525344.1_Silent_p.Q1473Q|EXPH5_ENST00000443411.1_Silent_p.Q1292Q	p.Q1480Q	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4550	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1480					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4440G>A	CCDS8341.1																																																																																				0.483	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	17	0	0	0	1	0	12	17				
MERTK	10461	broad.mit.edu	37	2	112686866	112686866	+	Silent	SNP	C	C	T	rs137909193	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112686866C>T	ENST00000295408.4	+	2	488	c.231C>T	c.(229-231)aaC>aaT	p.N77N	MERTK_ENST00000421804.2_Silent_p.N77N|MERTK_ENST00000409780.1_Intron|RN7SL297P_ENST00000483161.2_RNA			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	77					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATACAGGAAACGTAGCCATTC	0.507													c|||	10	0.00199681	0.0076	0.0	5008	,	,		15698	0.0		0.0	False		,,,				2504	0.0					ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(229-231)aaC>aaT		c-mer proto-oncogene tyrosine kinase		C		15,4391	21.2+/-45.6	0,15,2188	110.0	89.0	96.0		231	-6.9	0.0	2	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	MERTK	NM_006343.2		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		77/1000	112686866	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112686866C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.231C>T	2.37:g.112686866C>T						MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Silent_p.N77N	p.N77N			Q12866	MERTK_HUMAN			2	488	+			77					Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.231C>T	CCDS2094.1																																																																																				0.507	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			7	23	0	0	0	1	0	7	23				
URAD	646625	broad.mit.edu	37	13	28562669	28562669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28562669G>A	ENST00000332715.5	-	1	122	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	36					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										GAGAATGGCCGCTGGGACCAA	0.468																																						ENST00000332715.4																			0											c.(106-108)Cgg>Tgg		ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase							90.0	91.0	91.0					13																	28562669		1999	4174	6173	SO:0001583	missense	646625							g.chr13:28562669G>A		CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	615804	"""parahox cluster neighbor"""	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.106C>T	13.37:g.28562669G>A	ENSP00000333490:p.Arg36Trp						p.R36W	NM_001105577.1	NP_001099047.1					1	105	-									Missense_Mutation	SNP	ENST00000332715.5	37	c.106C>T	CCDS45020.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199436	0.58126	.	.	ENSG00000183463	ENST00000332715	T	0.53206	0.63	5.29	4.44	0.53790	2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 (1);Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (2);	0.123944	0.56097	D	0.000031	T	0.72228	0.3434	M	0.92367	3.3	0.37820	D	0.928334	D	0.89917	1.0	D	0.68943	0.961	T	0.79976	-0.1576	10	0.87932	D	0	-1.9277	10.1251	0.42646	0.0927:0.0:0.9073:0.0	.	36	A6NGE7	URAD_HUMAN	W	36	ENSP00000333490:R36W	ENSP00000333490:R36W	R	-	1	2	PRHOXNB	27460669	1.000000	0.71417	0.893000	0.35052	0.565000	0.35776	3.309000	0.51903	1.222000	0.43521	0.655000	0.94253	CGG		0.468	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472432.1			19	18	0	0	0	1	0	19	18				
HUS1B	135458	broad.mit.edu	37	6	656183	656183	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656183A>G	ENST00000380907.2	-	1	780	c.762T>C	c.(760-762)atT>atC	p.I254I	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	254					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TATTGTCCCAAATATTGCACA	0.443																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(760-762)atT>atC		HUS1 checkpoint homolog b (S. pombe)							128.0	136.0	133.0					6																	656183		2203	4300	6503	SO:0001819	synonymous_variant	135458							g.chr6:656183A>G	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.762T>C	6.37:g.656183A>G						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.I254I	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	780	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	254					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.762T>C	CCDS4470.1																																																																																				0.443	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		15	140	0	0	0	1	0	15	140				
SEL1L2	80343	broad.mit.edu	37	20	13868588	13868588	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13868588C>A	ENST00000284951.5	-	7	737	c.663G>T	c.(661-663)ttG>ttT	p.L221F	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Splice_Site_p.L221F			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	221						integral component of membrane (GO:0016021)		p.L221L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTACAAACCAAAATCATCT	0.358																																						ENST00000284951.5																			1	Substitution - coding silent(1)	p.L221L(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.e7+1		sel-1 suppressor of lin-12-like 2 (C. elegans)							82.0	77.0	78.0					20																	13868588		1818	4086	5904	SO:0001630	splice_region_variant	80343					integral to membrane	binding	g.chr20:13868588C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.663+1G>T	20.37:g.13868588C>A						SEL1L2_ENST00000378072.5_Splice_Site_p.L221_splice|SEL1L2_ENST00000486903.1_5'UTR	p.L221_splice			Q5TEA6	SE1L2_HUMAN			7	737	-			221					B4DXX5	Splice_Site	SNP	ENST00000284951.5	37	c.663_splice		.	.	.	.	.	.	.	.	.	.	C	20.6	4.019906	0.75275	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.66460	-0.21;-0.21	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.000000	0.45606	D	0.000344	D	0.86502	0.5948	H	0.94264	3.515	0.43708	D	0.996177	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.89813	0.3983	9	.	.	.	-6.5538	15.065	0.71986	0.0:1.0:0.0:0.0	.	221;221	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	F	221	ENSP00000367312:L221F;ENSP00000284951:L221F	.	L	-	3	2	SEL1L2	13816588	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.317000	0.59184	2.615000	0.88500	0.650000	0.86243	TTG		0.358	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	Missense_Mutation	7	52	1	0	0.00307968	1	0.00325696	7	52				
NXPE1	120400	broad.mit.edu	37	11	114401047	114401047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114401047G>A	ENST00000424269.1	-	2	682	c.683C>T	c.(682-684)gCt>gTt	p.A228V	NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Missense_Mutation_p.A86V|NXPE1_ENST00000536312.1_Missense_Mutation_p.A228V			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	228						extracellular region (GO:0005576)											ACAGAGTTCAGCATTTGAGTT	0.443																																						ENST00000536312.1																			0											c.(682-684)gCt>gTt		neurexophilin and PC-esterase domain family, member 1							114.0	111.0	112.0					11																	114401047		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114401047G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.683C>T	11.37:g.114401047G>A	ENSP00000411690:p.Ala228Val					NXPE1_ENST00000424269.1_Missense_Mutation_p.A228V|NXPE1_ENST00000251921.2_Missense_Mutation_p.A86V	p.A228V							6	1575	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	G	10.96	1.497399	0.26861	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.46451	2.5;2.71;0.87	4.42	3.48	0.39840	.	0.758111	0.11529	N	0.554902	T	0.37404	0.1002	L	0.60455	1.87	0.09310	N	1	B	0.30104	0.268	B	0.30105	0.111	T	0.23404	-1.0189	10	0.29301	T	0.29	.	7.7109	0.28677	0.0:0.1883:0.6326:0.1791	.	228	F5H6W7	.	V	86;228;228	ENSP00000251921:A86V;ENSP00000411690:A228V;ENSP00000442984:A228V	ENSP00000251921:A86V	A	-	2	0	FAM55A	113906257	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.306000	0.19279	1.106000	0.41623	0.655000	0.94253	GCT		0.443	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		27	49	0	0	0	1	0	27	49				
SCARB1	949	broad.mit.edu	37	12	125302182	125302182	+	Silent	SNP	G	G	A	rs138402577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125302182G>A	ENST00000415380.2	-	2	323	c.198C>T	c.(196-198)tcC>tcT	p.S66S	SCARB1_ENST00000339570.5_Silent_p.S66S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.S66S|SCARB1_ENST00000541205.1_Silent_p.S25S|SCARB1_ENST00000546215.1_Silent_p.S66S|SCARB1_ENST00000544327.1_Silent_p.S12S|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000540495.1_Silent_p.S29S			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	66					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGAAGTAGACGGAGAGATAGA	0.587																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(196-198)tcC>tcT		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)	G	,	0,4406		0,0,2203	109.0	109.0	109.0		198,198	-5.0	0.7	12	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SCARB1	NM_001082959.1,NM_005505.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	66/507,66/510	125302182	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125302182G>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.198C>T	12.37:g.125302182G>A						SCARB1_ENST00000544327.1_Silent_p.S12S|SCARB1_ENST00000541205.1_Silent_p.S25S|SCARB1_ENST00000540495.1_Silent_p.S29S|SCARB1_ENST00000546215.1_Silent_p.S66S|SCARB1_ENST00000415380.2_Silent_p.S66S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000261693.6_Silent_p.S66S	p.S66S	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	2	394	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		66					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.198C>T																																																																																					0.587	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		12	63	0	0	0	1	0	12	63				
ADAMDEC1	27299	broad.mit.edu	37	8	24256926	24256926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256926G>A	ENST00000256412.4	+	10	1170	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.R238Q|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.R238Q	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	317	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCAACAATCGACGTGTGGGA	0.388																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(712-714)cGa>cAa		ADAM-like, decysin 1							236.0	213.0	221.0					8																	24256926		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24256926G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.950G>A	8.37:g.24256926G>A	ENSP00000256412:p.Arg317Gln					ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.R238Q|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.R317Q|RP11-624C23.1_ENST00000523578.1_RNA	p.R238Q	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	11	1260	+		Prostate(55;0.0181)	317			Peptidase M12B.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.713G>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	G	3.146	-0.175174	0.06421	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.62639	0.01;0.01;0.01	6.17	4.17	0.49024	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.567499	0.16262	N	0.222202	T	0.36026	0.0952	N	0.11313	0.125	0.09310	N	1	B	0.26975	0.165	B	0.25759	0.063	T	0.17837	-1.0356	10	0.13108	T	0.6	-2.5178	6.1126	0.20110	0.2442:0.0:0.7558:0.0	.	317	O15204	ADEC1_HUMAN	Q	317;238;238	ENSP00000256412:R317Q;ENSP00000442592:R238Q;ENSP00000428993:R238Q	ENSP00000256412:R317Q	R	+	2	0	ADAMDEC1	24312871	0.006000	0.16342	0.005000	0.12908	0.031000	0.12232	1.675000	0.37555	1.616000	0.50265	0.655000	0.94253	CGA		0.388	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		47	70	0	0	0	1	0	47	70				
ACE2	59272	broad.mit.edu	37	X	15609980	15609980	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15609980C>A	ENST00000252519.3	-	4	542		c.e4-1		ACE2_ENST00000427411.1_Splice_Site			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCATTCAAACCTGTTATCCCA	0.378																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.e5-1		angiotensin I converting enzyme 2	Moexipril(DB00691)						141.0	142.0	142.0					X																	15609980		2203	4299	6502	SO:0001630	splice_region_variant	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15609980C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.440-1G>T	X.37:g.15609980C>A						ACE2_ENST00000252519.3_Splice_Site		NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			5	656	-	Hepatocellular(33;0.183)							C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Splice_Site	SNP	ENST00000252519.3	37		CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262678	0.23051	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	.	.	.	6.14	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9695	0.80001	0.1349:0.8651:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACE2	15519901	1.000000	0.71417	0.936000	0.37596	0.012000	0.07955	5.222000	0.65277	2.615000	0.88500	0.596000	0.82720	.		0.378	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		Intron	9	232	1	0	3.86212e-05	1	4.30401e-05	9	232				
NCOR2	9612	broad.mit.edu	37	12	124950731	124950731	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124950731G>A	ENST00000404121.2	-	0	848				NCOR2_ENST00000404621.1_Silent_p.Y231Y|NCOR2_ENST00000405201.1_Silent_p.Y231Y|NCOR2_ENST00000429285.2_Silent_p.Y231Y|NCOR2_ENST00000356219.3_Silent_p.Y231Y|NCOR2_ENST00000397355.1_Silent_p.Y231Y	NM_001206654.1	NP_001193583.1	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTTCTCGTCGTAGATGATCT	0.657																																						ENST00000404121.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69								nuclear receptor corepressor 2							67.0	77.0	74.0					12																	124950731		1977	4156	6133			9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124950731G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000404121.2:c.-598C>T	12.37:g.124950731G>A						NCOR2_ENST00000404621.1_Silent_p.Y231Y|NCOR2_ENST00000397355.1_Silent_p.Y231Y|NCOR2_ENST00000429285.2_Silent_p.Y231Y|NCOR2_ENST00000405201.1_Silent_p.Y231Y|NCOR2_ENST00000356219.3_Silent_p.Y231Y		NM_001206654.1	NP_001193583.1	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	0	848	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)							O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Translation_Start_Site	SNP	ENST00000404121.2	37			.	.	.	.	.	.	.	.	.	.	G	10.11	1.259860	0.23051	.	.	ENSG00000196498	ENST00000542927	.	.	.	4.8	1.89	0.25635	.	.	.	.	.	T	0.55226	0.1907	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	4	.	.	.	-4.8284	7.3835	0.26870	0.1796:0.1374:0.6829:0.0	.	.	.	.	M	154	.	.	T	-	2	0	NCOR2	123516684	0.994000	0.37717	1.000000	0.80357	0.884000	0.51177	0.303000	0.19210	1.022000	0.39626	0.306000	0.20318	ACG		0.657	NCOR2-203	KNOWN	basic	protein_coding	protein_coding		NM_006312		30	50	0	0	0	1	0	30	50				
RECQL4	9401	broad.mit.edu	37	8	145739847	145739847	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145739847T>C	ENST00000428558.2	-	10	1724	c.1683A>G	c.(1681-1683)caA>caG	p.Q561Q	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	561	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATTCCCGTTGCTTCCTGG	0.647			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																													ENST00000428558.2			yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	"""N, F, S"""	RecQ protein-like 4			M		"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1681-1683)caA>caG	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							47.0	51.0	49.0					8																	145739847		2079	4198	6277	SO:0001819	synonymous_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145739847T>C	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1683A>G	8.37:g.145739847T>C						RECQL4_ENST00000532237.1_5'UTR	p.Q561Q	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	1724	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		561			Helicase ATP-binding.		Q3Y424|Q96DW2|Q96F55	Silent	SNP	ENST00000428558.2	37	c.1683A>G																																																																																					0.647	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004260		3	21	0	0	0	1	0	3	21				
CCDC88B	283234	broad.mit.edu	37	11	64120274	64120274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64120274G>A	ENST00000356786.5	+	20	3459	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.A291T|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1139						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCCTGCTGGCAGAGCGTGA	0.677																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3415-3417)Gca>Aca		coiled-coil domain containing 88B							26.0	29.0	28.0					11																	64120274		2199	4295	6494	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120274G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3415G>A	11.37:g.64120274G>A	ENSP00000349238:p.Ala1139Thr					CCDC88B_ENST00000359902.2_Missense_Mutation_p.A291T|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.A1139T	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			20	3459	+			1139					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3415G>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	10.82	1.458177	0.26161	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.46451	1.91;0.87	3.95	3.95	0.45737	.	.	.	.	.	T	0.21761	0.0524	N	0.21240	0.645	0.80722	D	1	P;B;P	0.39282	0.666;0.138;0.666	B;B;B	0.33339	0.162;0.055;0.162	T	0.10451	-1.0629	9	0.05436	T	0.98	.	11.6616	0.51349	0.0:0.0:1.0:0.0	.	1139;275;1139	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	T	1021;1139;291	ENSP00000349238:A1139T;ENSP00000352974:A291T	ENSP00000349238:A1139T	A	+	1	0	CCDC88B	63876850	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	2.851000	0.48302	2.196000	0.70406	0.462000	0.41574	GCA		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		12	27	0	0	0	1	0	12	27				
GRIP2	80852	broad.mit.edu	37	3	14555201	14555201	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14555201G>A	ENST00000273083.3	-	0	1675							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTCCAGCACGACCTTGTGGG	0.622																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							31.0	38.0	35.0					3																	14555201		2170	4252	6422			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555201G>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555201G>A										Q9C0E4	GRIP2_HUMAN			0	1675	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.622	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		6	12	0	0	0	1	0	6	12				
CEMP1	752014	broad.mit.edu	37	16	2580303	2580303	+	3'UTR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2580303C>T	ENST00000567119.1	-	0	1106				AMDHD2_ENST00000413459.3_Missense_Mutation_p.A443V|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1							cytoplasm (GO:0005737)				lung(1)|skin(1)	2						TGCTGGAGGGCAGTATGGGAG	0.582																																						ENST00000413459.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(1327-1329)gCa>gTa		amidohydrolase domain containing 2							51.0	56.0	54.0					16																	2580303		2149	4249	6398	SO:0001624	3_prime_UTR_variant	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2580303C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.*28G>A	16.37:g.2580303C>T						AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000382350.1_3'UTR|CEMP1_ENST00000567119.1_3'UTR	p.A443V	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN			11	1397	+			222					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.1328C>T	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658771	0.29515	.	.	ENSG00000162066	ENST00000413459	.	.	.	2.21	0.112	0.14623	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	P	0.38800	0.648	B	0.28784	0.094	T	0.15321	-1.0441	8	0.54805	T	0.06	.	2.7367	0.05242	0.2769:0.5567:0.0:0.1664	.	443	Q9Y303-3	.	V	443	.	ENSP00000391596:A443V	A	+	2	0	AMDHD2	2520304	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	0.096000	0.15147	0.065000	0.16485	-0.258000	0.10820	GCA		0.582	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		18	23	0	0	0	1	0	18	23				
CPEB3	22849	broad.mit.edu	37	10	93940768	93940768	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93940768C>T	ENST00000265997.4	-	4	1346	c.1174G>A	c.(1174-1176)Ggg>Agg	p.G392R	CPEB3_ENST00000412050.4_Missense_Mutation_p.G369R	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	392					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAATTTATCCCCATGCGTCCt	0.259																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1105-1107)Ggg>Agg		cytoplasmic polyadenylation element binding protein 3							75.0	79.0	77.0					10																	93940768		2201	4300	6501	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93940768C>T	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1174G>A	10.37:g.93940768C>T	ENSP00000265997:p.Gly392Arg					CPEB3_ENST00000265997.4_Missense_Mutation_p.G392R	p.G369R	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			4	1193	-		Colorectal(252;0.0869)	392					Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1105G>A	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110930	0.56398	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.53423	0.93;0.62	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	N	0.08118	0	0.80722	D	1	B;D;D	0.89917	0.041;1.0;1.0	B;D;D	0.87578	0.021;0.996;0.998	T	0.38001	-0.9681	10	0.08179	T	0.78	-5.5781	19.0663	0.93113	0.0:1.0:0.0:0.0	.	392;369;369	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	R	369;369;392	ENSP00000398310:G369R;ENSP00000265997:G392R	ENSP00000265997:G392R	G	-	1	0	CPEB3	93930748	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.210000	0.65214	2.584000	0.87258	0.563000	0.77884	GGG		0.259	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		10	55	0	0	0	1	0	10	55				
SHANK3	85358	broad.mit.edu	37	22	51160848	51160848	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160848G>A	ENST00000414786.2	+	21	4772	c.4545G>A	c.(4543-4545)tcG>tcA	p.S1515S	SHANK3_ENST00000262795.3_Silent_p.S1545S|SHANK3_ENST00000445220.2_Silent_p.S1531S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1529					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAAGAAGTCGCCCATCGCAG	0.652																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(4543-4545)tcG>tcA		SH3 and multiple ankyrin repeat domains 3							22.0	25.0	24.0					22																	51160848		1921	3781	5702	SO:0001819	synonymous_variant	85358							g.chr22:51160848G>A	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4545G>A	22.37:g.51160848G>A						SHANK3_ENST00000445220.2_Silent_p.S1531S|SHANK3_ENST00000262795.3_Silent_p.S1545S	p.S1515S			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	4772	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1545					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.4545G>A																																																																																					0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		11	16	0	0	0	1	0	11	16				
CDK17	5128	broad.mit.edu	37	12	96691079	96691079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96691079C>T	ENST00000261211.3	-	9	1445	c.842G>A	c.(841-843)tGt>tAt	p.C281Y	CDK17_ENST00000543119.2_Missense_Mutation_p.C281Y|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.C228Y	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GATGTTTCCACAGTCATCCAT	0.343																																						ENST00000261211.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.(841-843)tGt>tAt		cyclin-dependent kinase 17							181.0	147.0	159.0					12																	96691079		2203	4300	6503	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96691079C>T		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.842G>A	12.37:g.96691079C>T	ENSP00000261211:p.Cys281Tyr					CDK17_ENST00000543119.2_Missense_Mutation_p.C281Y|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.C228Y	p.C281Y	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN			9	1445	-			281			Protein kinase.		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.842G>A	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576578	0.65878	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64618	-0.11;-0.11;-0.11	5.37	5.37	0.77165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	N	0.01109	-1.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72225	-0.4355	10	0.38643	T	0.18	-11.9042	19.0867	0.93206	0.0:1.0:0.0:0.0	.	281;281	A8K1U6;Q00537	.;CDK17_HUMAN	Y	281;281;228	ENSP00000261211:C281Y;ENSP00000444459:C281Y;ENSP00000442926:C228Y	ENSP00000261211:C281Y	C	-	2	0	CDK17	95215210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.677000	0.91161	0.655000	0.94253	TGT		0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		4	34	0	0	0	1	0	4	34				
UGT2B4	7363	broad.mit.edu	37	4	70361049	70361049	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361049G>A	ENST00000305107.6	-	1	577	c.531C>T	c.(529-531)ggC>ggT	p.G177G	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.G41G|UGT2B4_ENST00000512583.1_Silent_p.G177G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	177					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAATTGCGTAGCCAGGAGAGA	0.458																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(529-531)ggC>ggT		UDP glucuronosyltransferase 2 family, polypeptide B4							63.0	64.0	64.0					4																	70361049		2181	4294	6475	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361049G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.531C>T	4.37:g.70361049G>A						UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.G41G|UGT2B4_ENST00000512583.1_Silent_p.G177G	p.G177G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	577	-			177					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.531C>T	CCDS43234.1																																																																																				0.458	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		16	27	0	0	0	1	0	16	27				
SRP68	6730	broad.mit.edu	37	17	74060232	74060232	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74060232A>C	ENST00000307877.2	-	4	547	c.386T>G	c.(385-387)aTg>aGg	p.M129R	SRP68_ENST00000539137.1_Missense_Mutation_p.M91R|SRP68_ENST00000355113.5_Missense_Mutation_p.M28R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	129					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCAGCATCCATCAGAACCAG	0.493																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(385-387)aTg>aGg		signal recognition particle 68kDa							140.0	120.0	127.0					17																	74060232		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74060232A>C	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.386T>G	17.37:g.74060232A>C	ENSP00000312066:p.Met129Arg					SRP68_ENST00000539137.1_Missense_Mutation_p.M91R|SRP68_ENST00000355113.5_Missense_Mutation_p.M28R	p.M129R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			4	547	-			129					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.386T>G	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605934	0.87157	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T	0.29142	1.58	5.24	5.24	0.73138	.	0.035330	0.85682	D	0.000000	T	0.41236	0.1150	M	0.72353	2.195	0.80722	D	1	P;P	0.47677	0.899;0.899	P;P	0.45681	0.49;0.466	T	0.46527	-0.9185	10	0.87932	D	0	-39.4872	15.287	0.73835	1.0:0.0:0.0:0.0	.	91;129	G3V1U4;Q9UHB9	.;SRP68_HUMAN	R	91;129;129;129;28	ENSP00000446136:M91R	ENSP00000307756:M129R	M	-	2	0	SRP68	71571827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.033000	0.93741	2.194000	0.70268	0.477000	0.44152	ATG		0.493	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		40	55	0	0	0	1	0	40	55				
TMCO3	55002	broad.mit.edu	37	13	114193804	114193804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114193804G>A	ENST00000434316.2	+	10	2031	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	558						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTGGCCATCGTTTTCTTCGC	0.502																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1672-1674)Gtt>Att		transmembrane and coiled-coil domains 3							73.0	72.0	72.0					13																	114193804		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114193804G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1672G>A	13.37:g.114193804G>A	ENSP00000389399:p.Val558Ile					TMCO3_ENST00000375391.1_Intron	p.V558I	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		10	2031	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	558					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1672G>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	0.129	-1.115731	0.01799	.	.	ENSG00000150403	ENST00000434316	T	0.14766	2.48	4.83	-2.65	0.06095	Cation/H+ exchanger (1);	0.192412	0.44483	N	0.000441	T	0.03651	0.0104	N	0.02685	-0.53	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48779	-0.9005	10	0.02654	T	1	-19.1883	10.2629	0.43438	0.6578:0.0:0.3422:0.0	.	558	Q6UWJ1	TMCO3_HUMAN	I	558	ENSP00000389399:V558I	ENSP00000389399:V558I	V	+	1	0	TMCO3	113241805	0.998000	0.40836	0.617000	0.29091	0.137000	0.21094	1.578000	0.36525	-0.340000	0.08388	-0.464000	0.05259	GTT		0.502	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		10	24	0	0	0	1	0	10	24				
CACNG1	786	broad.mit.edu	37	17	65052275	65052275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65052275G>A	ENST00000226021.3	+	4	628	c.557G>A	c.(556-558)tGt>tAt	p.C186Y		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	186					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCCTGCGCCTGTGCCGCCTTC	0.602																																						ENST00000226021.3																			0				breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(556-558)tGt>tAt		calcium channel, voltage-dependent, gamma subunit 1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						212.0	153.0	173.0					17																	65052275		2203	4300	6503	SO:0001583	missense	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65052275G>A	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.557G>A	17.37:g.65052275G>A	ENSP00000226021:p.Cys186Tyr						p.C186Y	NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN			4	628	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		186					B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	c.557G>A	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273858	0.59649	.	.	ENSG00000108878	ENST00000226021	T	0.68903	-0.36	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.82513	0.5053	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.83923	0.0302	10	0.48119	T	0.1	.	17.6439	0.88144	0.0:0.0:1.0:0.0	.	186	Q06432	CCG1_HUMAN	Y	186	ENSP00000226021:C186Y	ENSP00000226021:C186Y	C	+	2	0	CACNG1	62482737	1.000000	0.71417	0.903000	0.35520	0.233000	0.25261	7.444000	0.80532	2.482000	0.83794	0.462000	0.41574	TGT		0.602	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			18	41	0	0	0	1	0	18	41				
SLC25A22	79751	broad.mit.edu	37	11	792355	792355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:792355C>A	ENST00000320230.5	-	8	1172	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	CEND1_ENST00000524587.1_5'Flank|CEND1_ENST00000330106.4_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.A231S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	231					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACACAGCCGGCCAGGAAGGAC	0.667																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(691-693)Gcc>Tcc		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						61.0	71.0	67.0					11																	792355		2203	4298	6501	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792355C>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.691G>T	11.37:g.792355C>A	ENSP00000322020:p.Ala231Ser					SLC25A22_ENST00000531214.1_Missense_Mutation_p.A231S	p.A231S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1172	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	231					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.691G>T	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	0.648	-0.810517	0.02798	.	.	ENSG00000177542	ENST00000320230;ENST00000531214;ENST00000481290	D;D;T	0.81579	-1.51;-1.51;-1.3	3.91	1.93	0.25924	Mitochondrial carrier domain (2);	0.071164	0.64402	D	0.000017	T	0.63745	0.2537	N	0.21324	0.655	0.45648	D	0.998577	B	0.11235	0.004	B	0.20955	0.032	T	0.48068	-0.9067	10	0.21014	T	0.42	-17.2474	6.7502	0.23483	0.4328:0.4778:0.0:0.0895	.	231	Q9H936	GHC1_HUMAN	S	231;231;256	ENSP00000322020:A231S;ENSP00000437236:A231S;ENSP00000431829:A256S	ENSP00000322020:A231S	A	-	1	0	SLC25A22	782355	0.990000	0.36364	0.913000	0.36048	0.057000	0.15508	2.157000	0.42320	0.391000	0.25143	-0.357000	0.07601	GCC		0.667	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			9	96	1	0	2.17888e-05	1	2.45068e-05	9	96				
QTRT1	81890	broad.mit.edu	37	19	10823678	10823678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10823678G>A	ENST00000250237.5	+	9	1031	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	341					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAACACGGCCGCGCTGCACCA	0.682																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1021-1023)Gcg>Acg		queuine tRNA-ribosyltransferase 1							43.0	36.0	38.0					19																	10823678		2203	4299	6502	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823678G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.1021G>A	19.37:g.10823678G>A	ENSP00000250237:p.Ala341Thr						p.A341T	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		9	1031	+			341					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.1021G>A	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125339	0.77436	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	U	0.000001	D	0.83732	0.5318	H	0.95504	3.68	0.80722	D	1	P	0.52316	0.952	P	0.54590	0.756	D	0.89509	0.3770	9	0.87932	D	0	-15.6001	15.5854	0.76479	0.0:0.0:1.0:0.0	.	341	Q9BXR0	TGT_HUMAN	T	341	.	ENSP00000250237:A341T	A	+	1	0	QTRT1	10684678	1.000000	0.71417	0.426000	0.26672	0.322000	0.28314	8.423000	0.90264	1.967000	0.57214	0.491000	0.48974	GCG		0.682	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		11	17	0	0	0	1	0	11	17				
ARID1B	57492	broad.mit.edu	37	6	157505375	157505375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157505375A>G	ENST00000350026.5	+	12	3318	c.3317A>G	c.(3316-3318)aAc>aGc	p.N1106S	ARID1B_ENST00000275248.4_Missense_Mutation_p.N1101S|ARID1B_ENST00000367148.1_Missense_Mutation_p.N1159S|ARID1B_ENST00000346085.5_Missense_Mutation_p.N1119S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1106	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTAATAAAAACAAGAAGTGG	0.433																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3355-3357)aAc>aGc		AT rich interactive domain 1B (SWI1-like)							69.0	68.0	68.0					6																	157505375		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157505375A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3317A>G	6.37:g.157505375A>G	ENSP00000055163:p.Asn1106Ser					ARID1B_ENST00000350026.5_Missense_Mutation_p.N1106S|ARID1B_ENST00000275248.4_Missense_Mutation_p.N1101S|ARID1B_ENST00000367148.1_Missense_Mutation_p.N1159S	p.N1119S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	13	3357	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1106			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3356A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250378	0.59212	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.91	5.91	0.95273	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.38953	1.18	0.80722	D	1	D;D;D;D	0.67145	0.995;0.996;0.995;0.995	P;P;P;P	0.53146	0.501;0.719;0.597;0.597	T	0.20371	-1.0277	10	0.52906	T	0.07	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	356;1106;1119;1101	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	S	1119;1106;1159;1101;576;628;581;173	ENSP00000344546:N1119S;ENSP00000055163:N1106S;ENSP00000356116:N1159S;ENSP00000275248:N1101S;ENSP00000412835:N628S;ENSP00000313006:N581S;ENSP00000383596:N173S	ENSP00000275248:N1101S	N	+	2	0	ARID1B	157547067	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.329000	0.96413	2.254000	0.74563	0.533000	0.62120	AAC		0.433	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		18	19	0	0	0	1	0	18	19				
PI4KA	5297	broad.mit.edu	37	22	21075617	21075617	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21075617A>C	ENST00000572273.1	-	43	5141	c.4911T>G	c.(4909-4911)atT>atG	p.I1637M	PI4KA_ENST00000414196.3_Missense_Mutation_p.I447M|PI4KA_ENST00000255882.6_Missense_Mutation_p.I1695M|AC007308.6_ENST00000430719.1_RNA			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1637	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCTAGATAAATGTTAGTCT	0.502																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(5083-5085)atT>atG		phosphatidylinositol 4-kinase, catalytic, alpha							147.0	129.0	135.0					22																	21075617		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21075617A>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4911T>G	22.37:g.21075617A>C	ENSP00000458238:p.Ile1637Met					PI4KA_ENST00000572273.1_Missense_Mutation_p.I1637M|PI4KA_ENST00000414196.3_Missense_Mutation_p.I447M	p.I1695M	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		43	5171	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1637			Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.5085T>G		.	.	.	.	.	.	.	.	.	.	A	3.082	-0.188835	0.06299	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.64991	-0.13;-0.13	5.12	2.64	0.31445	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	N	0.01656	-0.775	0.58432	D	0.999997	B;B	0.20550	0.024;0.046	B;B	0.31869	0.088;0.137	T	0.27088	-1.0084	10	0.02654	T	1	-23.9529	8.9315	0.35672	0.2516:0.0:0.7484:0.0	.	30;1637	A8MTF1;P42356	.;PI4KA_HUMAN	M	1637;447;30	ENSP00000402981:I447M;ENSP00000382162:I30M	ENSP00000255882:I1637M	I	-	3	3	PI4KA	19405617	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.821000	0.39041	0.416000	0.25844	-0.285000	0.09966	ATT		0.502	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		36	57	0	0	0	1	0	36	57				
PSMD11	5717	broad.mit.edu	37	17	30791130	30791130	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30791130G>A	ENST00000261712.3	+	4	645	c.382G>A	c.(382-384)Gct>Act	p.A128T	PSMD11_ENST00000457654.2_Missense_Mutation_p.A128T|Y_RNA_ENST00000365230.1_RNA	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CTTACGCCAAGCTTTGGAGGT	0.423																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(382-384)Gct>Act		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							212.0	192.0	198.0					17																	30791130		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30791130G>A	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.382G>A	17.37:g.30791130G>A	ENSP00000261712:p.Ala128Thr					PSMD11_ENST00000457654.2_Missense_Mutation_p.A128T	p.A128T	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		4	645	+		Breast(31;0.159)|Ovarian(249;0.182)	128					A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.382G>A	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899930	0.72754	.	.	ENSG00000108671	ENST00000261712	T	0.42131	0.98	5.65	5.65	0.86999	.	0.108239	0.64402	D	0.000007	T	0.41305	0.1153	L	0.45352	1.415	0.80722	D	1	B;B	0.22683	0.073;0.008	B;B	0.31390	0.129;0.016	T	0.11518	-1.0584	10	0.29301	T	0.29	0.789	17.2626	0.87075	0.0:0.0:1.0:0.0	.	128;128	B4DTS5;O00231	.;PSD11_HUMAN	T	128	ENSP00000261712:A128T	ENSP00000261712:A128T	A	+	1	0	PSMD11	27815243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.941000	0.99782	0.655000	0.94253	GCT		0.423	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		45	92	0	0	0	1	0	45	92				
MCC	4163	broad.mit.edu	37	5	112406897	112406897	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406897G>T	ENST00000302475.4	-	10	1812	c.1249C>A	c.(1249-1251)Ctg>Atg	p.L417M	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.L354M|MCC_ENST00000408903.3_Missense_Mutation_p.L607M	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	417					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTATGGTCAGGAGGTCATTT	0.453																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1249-1251)Ctg>Atg		mutated in colorectal cancers							230.0	205.0	214.0					5																	112406897		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112406897G>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1249C>A	5.37:g.112406897G>T	ENSP00000305617:p.Leu417Met					MCC_ENST00000515367.2_Missense_Mutation_p.L354M|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.L607M	p.L417M	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	10	1812	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	417					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1249C>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262753	0.59431	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.80393	-1.37;-1.37;-1.37	4.93	4.93	0.64822	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.64402	D	0.000010	D	0.86451	0.5936	M	0.67397	2.05	0.51482	D	0.99992	D;P;D;D	0.71674	0.997;0.91;0.997;0.998	D;P;D;D	0.79108	0.992;0.887;0.991;0.973	D	0.86195	0.1615	10	0.52906	T	0.07	-12.4408	8.9163	0.35583	0.212:0.0:0.788:0.0	.	417;379;607;417	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	M	417;354;607	ENSP00000305617:L417M;ENSP00000421615:L354M;ENSP00000386227:L607M	ENSP00000305617:L417M	L	-	1	2	MCC	112434796	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.076000	0.50081	2.449000	0.82847	0.591000	0.81541	CTG		0.453	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		41	103	1	0	3.38236e-24	1	4.48518e-24	41	103				
EPHA8	2046	broad.mit.edu	37	1	22927938	22927938	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22927938C>A	ENST00000166244.3	+	16	2947	c.2875C>A	c.(2875-2877)Ctg>Atg	p.L959M		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	959	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATACTCCTCTCTGGGCATGGT	0.711																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2875-2877)Ctg>Atg		EPH receptor A8							36.0	41.0	39.0					1																	22927938		2203	4295	6498	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927938C>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2875C>A	1.37:g.22927938C>A	ENSP00000166244:p.Leu959Met						p.L959M	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	2947	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	959			SAM.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2875C>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177049	0.57692	.	.	ENSG00000070886	ENST00000166244	T	0.49720	0.77	5.23	3.31	0.37934	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000008	T	0.49762	0.1576	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43605	-0.9381	10	0.27082	T	0.32	.	5.7547	0.18166	0.0:0.663:0.1608:0.1762	.	959	P29322	EPHA8_HUMAN	M	959	ENSP00000166244:L959M	ENSP00000166244:L959M	L	+	1	2	EPHA8	22800525	0.542000	0.26426	0.958000	0.39756	0.968000	0.65278	1.213000	0.32407	1.432000	0.47375	0.491000	0.48974	CTG		0.711	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		17	39	1	0	6.49762e-13	1	8.19883e-13	17	39				
RFX4	5992	broad.mit.edu	37	12	107033141	107033141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107033141G>A	ENST00000392842.1	+	3	576	c.162G>A	c.(160-162)aaG>aaA	p.K54K	RFX4_ENST00000357881.4_Silent_p.K63K|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	54					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGCATCCAAGCCCCACTCCA	0.383																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(160-162)aaG>aaA		regulatory factor X, 4 (influences HLA class II expression)							175.0	158.0	164.0					12																	107033141		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107033141G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.162G>A	12.37:g.107033141G>A						RFX4_ENST00000357881.4_Silent_p.K63K|RP11-144F15.1_ENST00000551505.1_Intron	p.K54K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			3	576	+			54					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.162G>A	CCDS9106.1																																																																																				0.383	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		25	27	0	0	0	1	0	25	27				
BLCAP	10904	broad.mit.edu	37	20	36147459	36147459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36147459G>A	ENST00000373537.2	-	2	432	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	NNAT_ENST00000346199.2_5'Flank|BLCAP_ENST00000397135.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397131.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397137.1_Missense_Mutation_p.R40W|NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000397134.1_Missense_Mutation_p.R40W|BLCAP_ENST00000414542.2_Missense_Mutation_p.R40W	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	40					apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)		p.R40W(1)		breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CAAGGCTTCCGTTCCAGGAGG	0.567																																						ENST00000414542.2																			1	Substitution - Missense(1)	p.R40W(1)	large_intestine(1)	breast(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(118-120)Cgg>Tgg		bladder cancer associated protein							59.0	58.0	58.0					20																	36147459		2203	4300	6503	SO:0001583	missense	10904				apoptosis|cell cycle	integral to membrane		g.chr20:36147459G>A	AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.118C>T	20.37:g.36147459G>A	ENSP00000362637:p.Arg40Trp					BLCAP_ENST00000397135.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397137.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397131.1_Missense_Mutation_p.R40W|BLCAP_ENST00000373537.2_Missense_Mutation_p.R40W|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397134.1_Missense_Mutation_p.R40W	p.R40W	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN			3	565	-		Myeloproliferative disorder(115;0.00878)	40					A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	c.118C>T	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131962	0.56828	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507;ENST00000445723;ENST00000414080	.	.	.	5.16	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79227	-0.1890	8	0.87932	D	0	-11.6846	10.4953	0.44775	0.0:0.0:0.6465:0.3535	.	40	P62952	BLCAP_HUMAN	W	40	.	ENSP00000362637:R40W	R	-	1	2	BLCAP	35580873	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.852000	0.55934	1.361000	0.45981	0.585000	0.79938	CGG		0.567	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	NM_006698		14	16	0	0	0	1	0	14	16				
DNM2	1785	broad.mit.edu	37	19	10886449	10886449	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10886449C>T	ENST00000355667.6	+	4	536	c.456C>T	c.(454-456)atC>atT	p.I152I	DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Silent_p.I152I|DNM2_ENST00000389253.4_Silent_p.I152I|DNM2_ENST00000585892.1_Silent_p.I152I|DNM2_ENST00000314646.5_Silent_p.I152I|DNM2_ENST00000359692.6_Silent_p.I152I	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	152	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCCAGACATCGAGTACCAGA	0.582			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(454-456)atC>atT		dynamin 2							180.0	170.0	173.0					19																	10886449		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10886449C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.456C>T	19.37:g.10886449C>T						DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Silent_p.I152I|DNM2_ENST00000359692.6_Silent_p.I152I|DNM2_ENST00000389253.4_Silent_p.I152I|DNM2_ENST00000585892.1_Silent_p.I152I|DNM2_ENST00000355667.6_Silent_p.I152I	p.I152I			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		4	620	+			152					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.456C>T	CCDS45968.1																																																																																				0.582	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		9	154	0	0	0	1	0	9	154				
PLA2G15	23659	broad.mit.edu	37	16	68293208	68293208	+	Missense_Mutation	SNP	G	G	A	rs138261353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68293208G>A	ENST00000219345.5	+	6	970	c.887G>A	c.(886-888)cGc>cAc	p.R296H	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.R96H|PLA2G15_ENST00000413021.2_Missense_Mutation_p.R202H|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	296					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGGACTACCGCAAGTTCTTC	0.582																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(886-888)cGc>cAc		phospholipase A2, group XV		G	HIS/ARG	0,4396		0,0,2198	83.0	74.0	77.0		887	-9.9	0.0	16	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLA2G15	NM_012320.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	296/413	68293208	1,12995	2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293208G>A	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.887G>A	16.37:g.68293208G>A	ENSP00000219345:p.Arg296His					PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.R96H|PLA2G15_ENST00000413021.2_Missense_Mutation_p.R202H	p.R296H	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			6	970	+			296					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.887G>A	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518511	0.13005	0.0	1.16E-4	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.95518	-3.73;-3.73;-3.73	5.22	-9.85	0.00476	.	1.307360	0.04612	N	0.400532	D	0.90410	0.6998	L	0.27053	0.805	0.09310	N	1	B;B;B	0.15473	0.013;0.009;0.001	B;B;B	0.11329	0.005;0.006;0.001	T	0.76825	-0.2816	10	0.38643	T	0.18	-29.7636	16.0729	0.80948	0.2048:0.0992:0.696:0.0	.	96;202;296	B4DPU0;B4DUD1;Q8NCC3	.;.;PAG15_HUMAN	H	202;296;96	ENSP00000394197:R202H;ENSP00000219345:R296H;ENSP00000393610:R96H	ENSP00000219345:R296H	R	+	2	0	PLA2G15	66850709	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.100000	0.03339	-2.170000	0.00776	-0.793000	0.03317	CGC		0.582	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		30	29	0	0	0	1	0	30	29				
XG	7499	broad.mit.edu	37	X	2729409	2729409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729409G>A	ENST00000381174.5	+	9	667	c.442G>A	c.(442-444)Gta>Ata	p.V148I	snoU13_ENST00000516039.1_RNA|XG_ENST00000419513.2_Missense_Mutation_p.V163I|XG_ENST00000426774.1_Missense_Mutation_p.V149I			P55808	XG_HUMAN	Xg blood group	148						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCTCCCATCGTATCCGTGGT	0.443																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(445-447)Gta>Ata		Xg blood group							64.0	57.0	60.0					X																	2729409		2203	4298	6501	SO:0001583	missense	7499					integral to membrane|plasma membrane		g.chrX:2729409G>A	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.442G>A	X.37:g.2729409G>A	ENSP00000370566:p.Val148Ile					XG_ENST00000381174.5_Missense_Mutation_p.V148I|XG_ENST00000419513.2_Missense_Mutation_p.V163I	p.V149I	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			9	668	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	148					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	c.445G>A	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360322	0.24598	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	3.6	2.71	0.32032	.	0.440709	0.19796	U	0.105853	T	0.25232	0.0613	L	0.42008	1.315	0.09310	N	1	P;P	0.52316	0.952;0.941	B;B	0.44085	0.44;0.313	T	0.08680	-1.0710	10	0.25106	T	0.35	.	8.6942	0.34284	0.0:0.23:0.77:0.0	.	148;163	P55808;P55808-3	XG_HUMAN;.	I	148;163;149;126;10	ENSP00000370566:V148I;ENSP00000411004:V163I;ENSP00000398503:V149I;ENSP00000430005:V126I	ENSP00000370566:V148I	V	+	1	0	XG	2739409	0.030000	0.19436	0.002000	0.10522	0.277000	0.26821	1.238000	0.32707	0.517000	0.28361	0.384000	0.25694	GTA		0.443	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		3	22	0	0	0	1	0	3	22				
GBA3	57733	broad.mit.edu	37	4	22729544	22729544	+	RNA	SNP	G	G	A	rs375620844		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729544G>A	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGCACCATCGCCCACAACAA	0.403																																						ENST00000508166.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)		G	,	0,4406		0,0,2203	102.0	92.0	95.0		,	-2.0	0.4	4		95	1,8599		0,1,4299	no	intron,intron	GBA3	NM_001128432.1,NM_020973.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	22729544	1,13005	2203	4300	6503			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729544G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729544G>A						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA		NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN			0	160	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.403	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			32	41	0	0	0	1	0	32	41				
NFKBIE	4794	broad.mit.edu	37	6	44227997	44227997	+	Missense_Mutation	SNP	G	G	A	rs145497659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44227997G>A	ENST00000275015.5	-	5	1219	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V	SLC35B2_ENST00000537814.1_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank|SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000393810.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	407					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTGCAGCGCTGTCTTACC	0.617																																						ENST00000275015.5																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(1219-1221)gCg>gTg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	56.0	57.0	57.0		1220	5.1	0.8	6	dbSNP_134	57	0,8600		0,0,4300	no	missense	NFKBIE	NM_004556.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	407/501	44227997	1,13005	2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44227997G>A	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1220C>T	6.37:g.44227997G>A	ENSP00000275015:p.Ala407Val						p.A407V	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1219	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		407					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.1220C>T	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657569	0.88154	2.27E-4	0.0	ENSG00000146232	ENST00000275015;ENST00000443607	T	0.69175	-0.38	5.05	5.05	0.67936	Ankyrin repeat-containing domain (3);	0.214155	0.39020	N	0.001491	T	0.73705	0.3621	M	0.64404	1.975	0.47441	D	0.999429	D	0.71674	0.998	P	0.61328	0.887	T	0.75780	-0.3197	10	0.54805	T	0.06	-20.4201	18.4231	0.90598	0.0:0.0:1.0:0.0	.	407	O00221	IKBE_HUMAN	V	407;8	ENSP00000275015:A407V	ENSP00000275015:A407V	A	-	2	0	NFKBIE	44335975	1.000000	0.71417	0.834000	0.33040	0.991000	0.79684	8.019000	0.88732	2.336000	0.79503	0.655000	0.94253	GCG		0.617	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			23	33	0	0	0	1	0	23	33				
CD93	22918	broad.mit.edu	37	20	23065232	23065232	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065232T>C	ENST00000246006.4	-	1	1745	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	533					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCAGCATCTTGAGTGGGGC	0.672																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1597-1599)aAg>aGg		CD93 molecule							44.0	51.0	49.0					20																	23065232		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065232T>C	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1598A>G	20.37:g.23065232T>C	ENSP00000246006:p.Lys533Arg						p.K533R	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1745	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		533					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1598A>G	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486489	0.26686	.	.	ENSG00000125810	ENST00000246006	T	0.80304	-1.36	5.59	3.14	0.36123	.	1.448960	0.04388	N	0.361964	T	0.65133	0.2662	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53479	-0.8433	10	0.17369	T	0.5	-3.0949	5.8046	0.18432	0.0:0.0961:0.1726:0.7313	.	533	Q9NPY3	C1QR1_HUMAN	R	533	ENSP00000246006:K533R	ENSP00000246006:K533R	K	-	2	0	CD93	23013232	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.724000	0.25954	2.125000	0.65367	0.533000	0.62120	AAG		0.672	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		31	47	0	0	0	1	0	31	47				
RBM25	58517	broad.mit.edu	37	14	73577639	73577639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73577639A>G	ENST00000261973.7	+	15	2078	c.1793A>G	c.(1792-1794)gAa>gGa	p.E598G	RBM25_ENST00000527432.1_Missense_Mutation_p.E598G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	598	Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaaaaacgagaagaaCCCATG	0.493																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1792-1794)gAa>gGa		RNA binding motif protein 25							54.0	53.0	53.0					14																	73577639		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73577639A>G	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1793A>G	14.37:g.73577639A>G	ENSP00000261973:p.Glu598Gly					RBM25_ENST00000527432.1_Missense_Mutation_p.E598G|RBM25_ENST00000532483.1_3'UTR	p.E598G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	15	2078	+			598			Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1793A>G	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.730896	0.69074	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.13307	2.6;2.6	5.44	5.44	0.79542	.	0.103748	0.64402	D	0.000004	T	0.26159	0.0638	L	0.36672	1.1	0.80722	D	1	P	0.51653	0.947	D	0.65140	0.932	T	0.00995	-1.1487	10	0.34782	T	0.22	.	15.1649	0.72814	1.0:0.0:0.0:0.0	.	598	P49756	RBM25_HUMAN	G	598	ENSP00000261973:E598G;ENSP00000431150:E598G	ENSP00000261973:E598G	E	+	2	0	RBM25	72647392	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.799000	0.62517	2.065000	0.61736	0.383000	0.25322	GAA		0.493	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		13	6	0	0	0	1	0	13	6				
LTN1	26046	broad.mit.edu	37	21	30343762	30343762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30343762C>T	ENST00000361371.5	-	7	894	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LTN1_ENST00000389194.2_Missense_Mutation_p.R318H|LTN1_ENST00000389195.2_Missense_Mutation_p.R318H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	272					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATAAGCTGAGCGAATCTAAAA	0.358																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(814-816)cGc>cAc		listerin E3 ubiquitin protein ligase 1							140.0	136.0	137.0					21																	30343762		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30343762C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.815G>A	21.37:g.30343762C>T	ENSP00000354977:p.Arg272His					LTN1_ENST00000389195.2_Missense_Mutation_p.R318H|LTN1_ENST00000389194.2_Missense_Mutation_p.R318H	p.R272H	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			7	965	-			272					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.815G>A		.	.	.	.	.	.	.	.	.	.	C	28.6	4.931217	0.92389	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.74106	3.14;3.14;-0.81	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88508	0.3087	10	0.66056	D	0.02	.	18.1081	0.89526	0.0:1.0:0.0:0.0	.	272	O94822	LTN1_HUMAN	H	318;272;274;318	ENSP00000373846:R318H;ENSP00000354977:R272H;ENSP00000373847:R318H	ENSP00000354977:R272H	R	-	2	0	LTN1	29265633	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.914000	0.75764	2.579000	0.87056	0.650000	0.86243	CGC		0.358	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		62	74	0	0	0	1	0	62	74				
RXFP1	59350	broad.mit.edu	37	4	159569700	159569700	+	Missense_Mutation	SNP	G	G	A	rs375810517		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159569700G>A	ENST00000307765.5	+	17	2057	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	RXFP1_ENST00000448688.2_Missense_Mutation_p.M497I|RXFP1_ENST00000470033.1_Missense_Mutation_p.M569I|RXFP1_ENST00000460056.2_Missense_Mutation_p.M521I|RXFP1_ENST00000343542.5_Missense_Mutation_p.M554I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	602					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGGAAGCATGTTTTATAGTG	0.289																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1804-1806)atG>atA		relaxin/insulin-like family peptide receptor 1		G	ILE/MET	0,3644		0,0,1822	102.0	95.0	97.0		1806	5.8	1.0	4		97	1,8143		0,1,4071	no	missense	RXFP1	NM_021634.2	10	0,1,5893	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	602/758	159569700	1,11787	1822	4072	5894	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159569700G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1806G>A	4.37:g.159569700G>A	ENSP00000303248:p.Met602Ile					RXFP1_ENST00000448688.2_Missense_Mutation_p.M497I|RXFP1_ENST00000460056.2_Missense_Mutation_p.M521I|RXFP1_ENST00000343542.5_Missense_Mutation_p.M554I|RXFP1_ENST00000470033.1_Missense_Mutation_p.M569I	p.M602I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	17	2057	+	all_hematologic(180;0.24)	Renal(120;0.0854)	602					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1806G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277884	0.95459	0.0	1.23E-4	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.50847	1.595	0.80722	D	1	D;D;D;D;D;P;D;D	0.89917	0.999;1.0;0.962;0.984;0.992;0.694;0.999;1.0	D;D;D;D;D;P;D;D	0.91635	0.993;0.999;0.918;0.945;0.945;0.759;0.993;0.998	T	0.04976	-1.0914	10	0.08837	T	0.75	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	613;629;497;554;569;521;472;602	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	I	521;602;497;554;569;472	ENSP00000423306:M521I;ENSP00000303248:M602I;ENSP00000414885:M497I;ENSP00000345889:M554I;ENSP00000420712:M569I	ENSP00000303248:M602I	M	+	3	0	RXFP1	159789150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.726000	0.93360	0.655000	0.94253	ATG		0.289	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		20	46	0	0	0	1	0	20	46				
NSMF	26012	broad.mit.edu	37	9	140347587	140347587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140347587T>C	ENST00000371475.3	-	9	1199	c.968A>G	c.(967-969)gAg>gGg	p.E323G	NSMF_ENST00000437259.1_Missense_Mutation_p.E300G|NSMF_ENST00000371474.3_Missense_Mutation_p.E298G|NSMF_ENST00000339554.3_Missense_Mutation_p.E120G|NSMF_ENST00000371472.2_Missense_Mutation_p.E321G|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000541195.1_Missense_Mutation_p.E120G|NSMF_ENST00000265663.7_Missense_Mutation_p.E321G|NSMF_ENST00000392812.4_Missense_Mutation_p.E300G|NSMF_ENST00000371482.1_5'UTR|NSMF_ENST00000371473.3_Missense_Mutation_p.E293G|NSMF_ENST00000371468.1_Missense_Mutation_p.E56G	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	323					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										GTCCAGGTCCTCGAAGGCCTC	0.657																																						ENST00000371475.3																			0											c.(967-969)gAg>gGg		NMDA receptor synaptonuclear signaling and neuronal migration factor							66.0	60.0	62.0					9																	140347587		2200	4295	6495	SO:0001583	missense	26012							g.chr9:140347587T>C		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.968A>G	9.37:g.140347587T>C	ENSP00000360530:p.Glu323Gly					NSMF_ENST00000371473.3_Missense_Mutation_p.E293G|NSMF_ENST00000371468.1_Missense_Mutation_p.E56G|NSMF_ENST00000392812.4_Missense_Mutation_p.E300G|NSMF_ENST00000371482.1_5'UTR|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000437259.1_Missense_Mutation_p.E300G|NSMF_ENST00000265663.7_Missense_Mutation_p.E321G|NSMF_ENST00000541195.1_Missense_Mutation_p.E120G|NSMF_ENST00000371474.3_Missense_Mutation_p.E298G|NSMF_ENST00000371472.2_Missense_Mutation_p.E321G|NSMF_ENST00000339554.3_Missense_Mutation_p.E120G	p.E323G	NM_001130969.1	NP_001124441.1					9	1199	-								Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.968A>G	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086072	0.76642	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472;ENST00000541195;ENST00000371468	T;T;T;T;T;T;T;T;T	0.47869	0.86;0.85;0.85;0.86;0.86;0.86;0.85;0.85;0.83	5.3	5.3	0.74995	.	0.116679	0.56097	D	0.000026	T	0.55273	0.1910	L	0.29908	0.895	0.36099	D	0.843988	D;P;P;D;P;D;P	0.71674	0.998;0.792;0.716;0.997;0.897;0.996;0.873	D;B;B;D;P;D;P	0.79784	0.993;0.269;0.407;0.991;0.566;0.986;0.461	T	0.66118	-0.6003	10	0.72032	D	0.01	-10.3937	11.6293	0.51164	0.0:0.0:0.0:1.0	.	300;120;74;298;293;323;321	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	G	120;323;321;300;300;298;293;321;120;56	ENSP00000342966:E120G;ENSP00000360530:E323G;ENSP00000265663:E321G;ENSP00000412007:E300G;ENSP00000376559:E300G;ENSP00000360529:E298G;ENSP00000360528:E293G;ENSP00000360527:E321G;ENSP00000444177:E120G	ENSP00000265663:E321G	E	-	2	0	NELF	139467408	0.999000	0.42202	0.999000	0.59377	0.871000	0.50021	5.839000	0.69395	2.014000	0.59158	0.374000	0.22700	GAG		0.657	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		4	45	0	0	0	1	0	4	45				
ITPKC	80271	broad.mit.edu	37	19	41235124	41235124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41235124G>T	ENST00000263370.2	+	3	1306	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	425					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAGGCAGGAGAGGATGGTCG	0.532																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(1273-1275)Gag>Tag		inositol-trisphosphate 3-kinase C							56.0	52.0	53.0					19																	41235124		2203	4300	6503	SO:0001587	stop_gained	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41235124G>T	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1273G>T	19.37:g.41235124G>T	ENSP00000263370:p.Glu425*						p.E425*	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1306	+			425					Q9UE25|Q9Y475	Nonsense_Mutation	SNP	ENST00000263370.2	37	c.1273G>T	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	38	7.223404	0.98146	.	.	ENSG00000086544	ENST00000263370	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-25.837	18.5144	0.90930	0.0:0.0:1.0:0.0	.	.	.	.	X	425	.	ENSP00000263370:E425X	E	+	1	0	ITPKC	45926964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.776000	0.99001	2.746000	0.94184	0.561000	0.74099	GAG		0.532	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		4	30	1	0	0.0215528	1	0.0221649	4	30				
PSMB4	5692	broad.mit.edu	37	1	151372573	151372573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151372573G>A	ENST00000290541.6	+	2	311	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	86					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			AACATCTCTCGCATTATGCGA	0.547																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(256-258)cGc>cAc		proteasome (prosome, macropain) subunit, beta type, 4							157.0	159.0	159.0					1																	151372573		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372573G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.257G>A	1.37:g.151372573G>A	ENSP00000290541:p.Arg86His						p.R86H	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	311	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		86					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.257G>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456918	0.96223	.	.	ENSG00000159377	ENST00000290541	T	0.36878	1.23	5.34	5.34	0.76211	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.73427	-0.3986	10	0.87932	D	0	-10.8341	17.6208	0.88080	0.0:0.0:1.0:0.0	.	86;86	B4DFL3;P28070	.;PSB4_HUMAN	H	86	ENSP00000290541:R86H	ENSP00000290541:R86H	R	+	2	0	PSMB4	149639197	1.000000	0.71417	0.964000	0.40570	0.710000	0.40934	9.493000	0.97960	2.502000	0.84385	0.561000	0.74099	CGC		0.547	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		101	138	0	0	0	1	0	101	138				
OPA1	4976	broad.mit.edu	37	3	193361390	193361390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193361390C>A	ENST00000392438.3	+	13	1520	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	OPA1_ENST00000361510.2_Missense_Mutation_p.P484H|OPA1_ENST00000361908.3_Missense_Mutation_p.P466H|OPA1_ENST00000361715.2_Missense_Mutation_p.P448H|OPA1_ENST00000361150.2_Missense_Mutation_p.P430H|OPA1_ENST00000361828.2_Missense_Mutation_p.P447H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	429	Dynamin-type G.		Missing (in OPA1). {ECO:0000269|PubMed:19319978}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ATGCAGAATCCTAATGCCATC	0.328																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1450-1452)cCt>cAt		optic atrophy 1 (autosomal dominant)							82.0	79.0	80.0					3																	193361390		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193361390C>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1286C>A	3.37:g.193361390C>A	ENSP00000376233:p.Pro429His					OPA1_ENST00000392438.3_Missense_Mutation_p.P429H|OPA1_ENST00000361908.3_Missense_Mutation_p.P466H|OPA1_ENST00000361828.2_Missense_Mutation_p.P447H|OPA1_ENST00000361150.2_Missense_Mutation_p.P430H|OPA1_ENST00000361715.2_Missense_Mutation_p.P448H	p.P484H	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	15	1685	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		429					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1451C>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975746	0.92982	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	5.79	5.79	0.91817	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99445	1.0939	10	0.87932	D	0	-18.5243	19.0145	0.92888	0.0:1.0:0.0:0.0	.	393;429;411;430;447;466;448;484	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	466;429;484;448;447;430	ENSP00000354681:P466H;ENSP00000376233:P429H;ENSP00000355324:P484H;ENSP00000355311:P448H;ENSP00000354429:P447H;ENSP00000354781:P430H	ENSP00000354781:P430H	P	+	2	0	OPA1	194844084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.735000	0.93741	0.655000	0.94253	CCT		0.328	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		5	49	1	0	5.9392e-07	1	6.91975e-07	5	49				
SPHKAP	80309	broad.mit.edu	37	2	228884074	228884074	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228884074G>A	ENST00000392056.3	-	7	1542	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	499						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1495-1497)gCg>gTg		SPHK1 interactor, AKAP domain containing							42.0	41.0	41.0					2																	228884074		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884074G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1496C>T	2.37:g.228884074G>A	ENSP00000375909:p.Ala499Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499V	p.A499V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1542	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	499					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1496C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178058	0.78564	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.50001	0.76;0.76	6.03	5.12	0.69794	.	0.048891	0.85682	N	0.000000	T	0.53222	0.1783	M	0.78637	2.42	0.58432	D	0.999999	P;D	0.56968	0.799;0.978	B;P	0.44946	0.097;0.465	T	0.61633	-0.7023	10	0.72032	D	0.01	.	12.3581	0.55186	0.0847:0.0:0.9153:0.0	.	499;499	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	499	ENSP00000375909:A499V;ENSP00000339886:A499V	ENSP00000339886:A499V	A	-	2	0	SPHKAP	228592318	1.000000	0.71417	0.413000	0.26509	0.957000	0.61999	7.198000	0.77823	1.469000	0.48083	0.655000	0.94253	GCG		0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		15	24	0	0	0	1	0	15	24				
NKTR	4820	broad.mit.edu	37	3	42678608	42678608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678608C>T	ENST00000232978.8	+	13	1600	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	471	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAATCTTCCACTCGAAGA	0.378																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1411-1413)tCc>tTc		natural killer-tumor recognition sequence							52.0	49.0	50.0					3																	42678608		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678608C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1412C>T	3.37:g.42678608C>T	ENSP00000232978:p.Ser471Phe					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.S471F	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	1600	+			471			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.1412C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385883	0.42308	.	.	ENSG00000114857	ENST00000232978	T	0.14022	2.54	5.72	5.72	0.89469	.	0.254805	0.40728	N	0.001028	T	0.10723	0.0262	N	0.24115	0.695	0.80722	D	1	B;B	0.17667	0.023;0.013	B;B	0.16289	0.015;0.005	T	0.05566	-1.0877	10	0.72032	D	0.01	-2.2695	11.7842	0.52032	0.0:0.9128:0.0:0.0872	.	171;471	Q6M1B8;P30414	.;NKTR_HUMAN	F	471	ENSP00000232978:S471F	ENSP00000232978:S471F	S	+	2	0	NKTR	42653612	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.959000	0.63666	2.704000	0.92352	0.655000	0.94253	TCC		0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		21	38	0	0	0	1	0	21	38				
STAG2	10735	broad.mit.edu	37	X	123185184	123185184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185184C>T	ENST00000371160.1	+	13	1426	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.T379I|STAG2_ENST00000354548.5_Missense_Mutation_p.T310I|STAG2_ENST00000371157.3_Missense_Mutation_p.T379I|STAG2_ENST00000218089.9_Missense_Mutation_p.T379I|STAG2_ENST00000371144.3_Missense_Mutation_p.T379I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	379					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTGTCTATGACCCTTGACAAA	0.284																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(1135-1137)aCc>aTc		stromal antigen 2							85.0	73.0	77.0					X																	123185184		2201	4293	6494	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123185184C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1136C>T	X.37:g.123185184C>T	ENSP00000360202:p.Thr379Ile					STAG2_ENST00000354548.5_Missense_Mutation_p.T310I|STAG2_ENST00000218089.9_Missense_Mutation_p.T379I|STAG2_ENST00000371145.3_Missense_Mutation_p.T379I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.T379I|STAG2_ENST00000371157.3_Missense_Mutation_p.T379I	p.T379I			Q8N3U4	STAG2_HUMAN			13	1426	+			379					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.1136C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124056	0.77436	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	M	0.72624	2.21	0.80722	D	1	D;B	0.62365	0.991;0.402	D;B	0.64144	0.922;0.186	T	0.54649	-0.8262	10	0.46703	T	0.11	-8.0452	18.3072	0.90187	0.0:1.0:0.0:0.0	.	379;379	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	379;379;310;379;379;379;379	ENSP00000218089:T379I;ENSP00000397265:T379I;ENSP00000346555:T310I;ENSP00000360202:T379I;ENSP00000360199:T379I;ENSP00000360187:T379I;ENSP00000360186:T379I	ENSP00000218089:T379I	T	+	2	0	STAG2	123012865	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.786000	0.85741	2.262000	0.75019	0.544000	0.68410	ACC		0.284	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		30	58	0	0	0	1	0	30	58				
PLEKHG4B	153478	broad.mit.edu	37	5	169510	169510	+	Missense_Mutation	SNP	C	C	T	rs149174138	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169510C>T	ENST00000283426.6	+	12	2514	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	822	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R822R(1)|p.R13R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGTACATTCGGTGCTTAGG	0.552																																						ENST00000283426.6																			2	Substitution - coding silent(2)	p.R822R(1)|p.R13R(1)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2464-2466)Cgg>Tgg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B		C	TRP/ARG	0,4406		0,0,2203	133.0	136.0	135.0		2464	0.6	0.0	5	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	PLEKHG4B	NM_052909.3	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	822/1272	169510	2,13004	2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:169510C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2464C>T	5.37:g.169510C>T	ENSP00000283426:p.Arg822Trp						p.R822W	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	12	2514	+			822			DH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.2464C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490816	0.26774	0.0	2.33E-4	ENSG00000153404	ENST00000283426	T	0.66815	-0.23	3.24	0.564	0.17302	Dbl homology (DH) domain (5);	.	.	.	.	D	0.84243	0.5429	H	0.94808	3.585	0.33551	D	0.59608	D	0.89917	1.0	D	0.91635	0.999	D	0.85797	0.1371	9	0.87932	D	0	.	10.1237	0.42637	0.3342:0.6658:0.0:0.0	.	822	Q96PX9	PKH4B_HUMAN	W	822	ENSP00000283426:R822W	ENSP00000283426:R822W	R	+	1	2	PLEKHG4B	222510	0.747000	0.28283	0.011000	0.14972	0.016000	0.09150	1.465000	0.35299	-0.263000	0.09378	0.313000	0.20887	CGG		0.552	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		43	79	0	0	0	1	0	43	79				
RNASE4	6038	broad.mit.edu	37	14	21167681	21167681	+	Missense_Mutation	SNP	C	C	T	rs142040605	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21167681C>T	ENST00000555835.1	+	2	827	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	RNASE4_ENST00000397995.2_Missense_Mutation_p.R51C|RNASE4_ENST00000304704.4_Missense_Mutation_p.R51C|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000555597.1_Missense_Mutation_p.R51C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	51					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TGGCAGTGATCGCTACTGCAA	0.532																																					Esophageal Squamous(59;1059 1362 26290 51151)	ENST00000555835.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(151-153)Cgc>Tgc		ribonuclease, RNase A family, 4		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	139.0	115.0	123.0		151,151	-11.7	0.0	14	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RNASE4	NM_002937.3,NM_194431.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	51/148,51/148	21167681	1,13005	2203	4300	6503	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167681C>T	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.151C>T	14.37:g.21167681C>T	ENSP00000452245:p.Arg51Cys					RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.R51C|RNASE4_ENST00000397995.2_Missense_Mutation_p.R51C|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.R51C	p.R51C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	827	+	all_cancers(95;0.00304)		51						Missense_Mutation	SNP	ENST00000555835.1	37	c.151C>T	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	C	6.103	0.387292	0.11581	0.0	1.16E-4	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.87	-11.7	0.00046	Ribonuclease A, domain (4);	2.421730	0.01069	N	0.004784	T	0.61400	0.2344	M	0.65677	2.01	0.09310	N	1	P	0.37636	0.603	B	0.28849	0.095	T	0.58216	-0.7675	10	0.72032	D	0.01	1.7238	3.9262	0.09265	0.5591:0.1469:0.149:0.1451	.	51	P34096	RNAS4_HUMAN	C	51	ENSP00000452245:R51C;ENSP00000381081:R51C;ENSP00000451624:R51C;ENSP00000381087:R51C;ENSP00000307096:R51C;ENSP00000381085:R51C	ENSP00000307096:R51C	R	+	1	0	AL163636.2;RNASE4	20237521	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.072000	0.01377	-3.344000	0.00182	-2.062000	0.00397	CGC		0.532	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			8	73	0	0	0	1	0	8	73				
FAM20B	9917	broad.mit.edu	37	1	179013184	179013184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179013184G>A	ENST00000263733.4	+	2	538	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	68						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGAGATTGCAGCCCAGTGGGT	0.582																																						ENST00000263733.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(202-204)Gcc>Acc		family with sequence similarity 20, member B							60.0	58.0	59.0					1																	179013184		2203	4300	6503	SO:0001583	missense	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179013184G>A	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.202G>A	1.37:g.179013184G>A	ENSP00000263733:p.Ala68Thr						p.A68T	NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN			2	538	+			68					Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	c.202G>A	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219623	0.58560	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	D	0.87256	-2.23	6.03	6.03	0.97812	.	0.146945	0.64402	D	0.000007	T	0.79149	0.4397	L	0.34521	1.04	0.51012	D	0.999901	B	0.34103	0.437	B	0.26094	0.066	T	0.75850	-0.3172	10	0.19147	T	0.46	-46.074	15.3096	0.74019	0.0:0.0:0.8601:0.1398	.	68	O75063	XYLK_HUMAN	T	68	ENSP00000263733:A68T	ENSP00000263733:A68T	A	+	1	0	FAM20B	177279807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.934000	0.70138	2.868000	0.98415	0.557000	0.71058	GCC		0.582	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		14	43	0	0	0	1	0	14	43				
FRYL	285527	broad.mit.edu	37	4	48621374	48621374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48621374G>A	ENST00000503238.1	-	4	327	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	FRYL_ENST00000507711.1_Missense_Mutation_p.R110C|FRYL_ENST00000264319.7_De_novo_Start_OutOfFrame|FRYL_ENST00000537810.1_Missense_Mutation_p.R110C|FRYL_ENST00000358350.4_Missense_Mutation_p.R110C			O94915	FRYL_HUMAN	FRY-like	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCTTTCACGTTGCTGTTCA	0.333																																						ENST00000264319.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91								FRY-like							137.0	124.0	128.0					4																	48621374		1836	4089	5925	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48621374G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.328C>T	4.37:g.48621374G>A	ENSP00000426064:p.Arg110Cys					FRYL_ENST00000507711.1_Missense_Mutation_p.R110C|FRYL_ENST00000537810.1_Missense_Mutation_p.R110C|FRYL_ENST00000503238.1_Missense_Mutation_p.R110C|FRYL_ENST00000358350.4_Missense_Mutation_p.R110C				O94915	FRYL_HUMAN			0	932	-								O95640|Q8WTZ5|Q9NT40	Translation_Start_Site	SNP	ENST00000503238.1	37		CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233109	0.95207	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.66995	-0.24;-0.24;-0.24;0.78	5.87	5.87	0.94306	.	0.000000	0.64402	U	0.000003	T	0.72153	0.3425	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.87578	0.998;0.973;0.786	T	0.75733	-0.3214	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	161;110;110	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	C	110	ENSP00000426064:R110C;ENSP00000351113:R110C;ENSP00000441114:R110C;ENSP00000421584:R110C	ENSP00000351113:R110C	R	-	1	0	FRYL	48316131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.200000	0.95010	2.941000	0.99782	0.655000	0.94253	CGT		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			21	22	0	0	0	1	0	21	22				
PTGFRN	5738	broad.mit.edu	37	1	117492100	117492100	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492100C>T	ENST00000393203.2	+	4	1266	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	373	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTATTACTGCCACGTGTCCC	0.552																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1117-1119)tgC>tgT		prostaglandin F2 receptor inhibitor							90.0	86.0	87.0					1																	117492100		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117492100C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1119C>T	1.37:g.117492100C>T							p.C373C	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	4	1266	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	373			Ig-like C2-type 3.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.1119C>T	CCDS890.1																																																																																				0.552	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		36	42	0	0	0	1	0	36	42				
TAS2R9	50835	broad.mit.edu	37	12	10961845	10961845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10961845C>T	ENST00000240691.2	-	1	922	c.830G>A	c.(829-831)aGc>aAc	p.S277N	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	277					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATGAATGGCTTGATGGGAA	0.373																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(829-831)aGc>aAc		taste receptor, type 2, member 9							107.0	104.0	105.0					12																	10961845		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10961845C>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.830G>A	12.37:g.10961845C>T	ENSP00000240691:p.Ser277Asn						p.S277N	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	922	-			277					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.830G>A	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272650	0.59649	.	.	ENSG00000121381	ENST00000240691	T	0.38077	1.16	4.31	0.62	0.17637	GPCR, rhodopsin-like superfamily (1);	0.520230	0.15271	U	0.271209	T	0.54303	0.1850	M	0.86740	2.835	0.09310	N	1	D	0.63046	0.992	D	0.67725	0.953	T	0.45220	-0.9276	10	0.66056	D	0.02	.	2.0029	0.03471	0.172:0.3527:0.3366:0.1387	.	277	Q9NYW1	TA2R9_HUMAN	N	277	ENSP00000240691:S277N	ENSP00000240691:S277N	S	-	2	0	TAS2R9	10853112	0.000000	0.05858	0.004000	0.12327	0.601000	0.36947	-1.805000	0.01737	0.006000	0.14734	0.650000	0.86243	AGC		0.373	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			8	76	0	0	0	1	0	8	76				
CEP78	84131	broad.mit.edu	37	9	80866931	80866931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80866931C>T	ENST00000424347.2	+	9	1466	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	CEP78_ENST00000277082.5_Missense_Mutation_p.R393C|CEP78_ENST00000376598.2_Missense_Mutation_p.R393C|CEP78_ENST00000376597.4_Missense_Mutation_p.R394C|CEP78_ENST00000415759.2_Missense_Mutation_p.R394C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	393					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTTGCCGTGGCGTACTGCAGA	0.403																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1177-1179)Cgt>Tgt		centrosomal protein 78kDa							38.0	38.0	38.0					9																	80866931		1881	4108	5989	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80866931C>T	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1177C>T	9.37:g.80866931C>T	ENSP00000411284:p.Arg393Cys					CEP78_ENST00000415759.2_Missense_Mutation_p.R394C|CEP78_ENST00000376597.4_Missense_Mutation_p.R394C|CEP78_ENST00000277082.5_Missense_Mutation_p.R393C|CEP78_ENST00000376598.2_Missense_Mutation_p.R393C	p.R393C			Q5JTW2	CEP78_HUMAN			9	1466	+			393					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.1177C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.108470	0.77096	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.66995	-0.17;-0.01;-0.24;-0.19;-0.21	5.51	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.74258	2.255	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.83615	0.0136	10	0.87932	D	0	-8.3252	14.6217	0.68592	0.1467:0.8533:0.0:0.0	.	394;394;393	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	C	393;393;394;394;393;393	ENSP00000411284:R393C;ENSP00000399286:R394C;ENSP00000365782:R394C;ENSP00000277082:R393C;ENSP00000365783:R393C	ENSP00000277082:R393C	R	+	1	0	CEP78	80056751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.301000	0.65727	1.297000	0.44761	0.655000	0.94253	CGT		0.403	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		4	17	0	0	0	1	0	4	17				
TDRD3	81550	broad.mit.edu	37	13	61083899	61083899	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61083899T>C	ENST00000196169.3	+	9	1370	c.582T>C	c.(580-582)gtT>gtC	p.V194V	TDRD3_ENST00000377894.2_Silent_p.V194V|TDRD3_ENST00000377881.2_Silent_p.V194V|TDRD3_ENST00000535286.1_Silent_p.V287V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	194	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCTTCCAGGTTGATGAGAAAG	0.408																																					Colon(36;164 906 35820 50723)	ENST00000196169.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(580-582)gtT>gtC		tudor domain containing 3							141.0	146.0	144.0					13																	61083899		2202	4300	6502	SO:0001819	synonymous_variant	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61083899T>C	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.582T>C	13.37:g.61083899T>C						TDRD3_ENST00000377894.2_Silent_p.V194V|TDRD3_ENST00000535286.1_Silent_p.V287V|TDRD3_ENST00000377881.2_Silent_p.V194V	p.V194V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	9	1370	+		Prostate(109;0.173)|Breast(118;0.174)	194			UBA.		B2MWP9|Q53XA6|Q6P992	Silent	SNP	ENST00000196169.3	37	c.582T>C	CCDS9441.1																																																																																				0.408	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		18	176	0	0	0	1	0	18	176				
ADA	100	broad.mit.edu	37	20	43249743	43249743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43249743C>T	ENST00000372874.4	-	10	1025	c.891G>A	c.(889-891)ccG>ccA	p.P297P	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|Z97053.1_ENST00000597250.1_5'Flank|ADA_ENST00000537820.1_Silent_p.P273P|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	297			P -> Q (in ADASCID; dbSNP:rs121908718). {ECO:0000269|PubMed:2783588}.		adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGAAGATGAGCGGGTCATCTG	0.483									Adenosine Deaminase Deficiency																													ENST00000372874.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(889-891)ccG>ccA		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						217.0	182.0	194.0					20																	43249743		2203	4300	6503	SO:0001819	synonymous_variant	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43249743C>T	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.891G>A	20.37:g.43249743C>T						PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Silent_p.P273P	p.P297P	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		10	1025	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	297		P -> Q (in ADASCID; dbSNP:rs121908718).			Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	c.891G>A	CCDS13335.1																																																																																				0.483	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		33	39	0	0	0	1	0	33	39				
PFDN6	10471	broad.mit.edu	37	6	33257675	33257675	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33257675G>T	ENST00000395131.1	+	2	448	c.42G>T	c.(40-42)gaG>gaT	p.E14D	PFDN6_ENST00000374606.5_Missense_Mutation_p.E14D|PFDN6_ENST00000374610.2_Missense_Mutation_p.E14D|WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000463584.1_Missense_Mutation_p.E14D|PFDN6_ENST00000374607.1_Missense_Mutation_p.E14D|WDR46_ENST00000477718.1_5'Flank			O15212	PFD6_HUMAN	prefoldin subunit 6	14					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						GAGAAGTGGAGAAATATCAAC	0.537																																						ENST00000463584.1																			0				kidney(1)|large_intestine(1)	2						c.(40-42)gaG>gaT		prefoldin subunit 6							112.0	106.0	108.0					6																	33257675		2203	4300	6503	SO:0001583	missense	10471				'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding	g.chr6:33257675G>T	BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.42G>T	6.37:g.33257675G>T	ENSP00000378563:p.Glu14Asp					PFDN6_ENST00000374610.2_Missense_Mutation_p.E14D|PFDN6_ENST00000374606.5_Missense_Mutation_p.E14D|PFDN6_ENST00000395131.1_Missense_Mutation_p.E14D|PFDN6_ENST00000374607.1_Missense_Mutation_p.E14D	p.E14D			O15212	PFD6_HUMAN			1	124	+			14						Missense_Mutation	SNP	ENST00000395131.1	37	c.42G>T	CCDS4773.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506544	0.44558	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607;ENST00000463584	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.62	2.93	0.34026	Prefoldin beta-like (1);Prefoldin (1);	0.169147	0.51477	D	0.000094	T	0.09335	0.0230	N	0.24115	0.695	0.45005	D	0.998027	B	0.14805	0.011	B	0.16289	0.015	T	0.14924	-1.0455	10	0.09338	T	0.73	.	7.6282	0.28224	0.2551:0.0:0.7449:0.0	.	14	O15212	PFD6_HUMAN	D	14	ENSP00000378563:E14D;ENSP00000363734:E14D;ENSP00000363738:E14D;ENSP00000363735:E14D;ENSP00000420135:E14D	ENSP00000363734:E14D	E	+	3	2	PFDN6	33365653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.111000	0.31159	0.489000	0.27749	0.637000	0.83480	GAG		0.537	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276361.1	NM_014260		22	30	1	0	3.7963e-18	1	4.94062e-18	22	30				
C3	718	broad.mit.edu	37	19	6714041	6714041	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6714041G>T	ENST00000245907.6	-	7	827	c.735C>A	c.(733-735)atC>atA	p.I245I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	245					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCTCGTTATAGATGTAGTAGA	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(733-735)atC>atA		complement component 3							75.0	82.0	80.0					19																	6714041		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6714041G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.735C>A	19.37:g.6714041G>T							p.I245I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	7	827	-			245					A7E236	Silent	SNP	ENST00000245907.6	37	c.735C>A	CCDS32883.1																																																																																				0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		4	80	1	0	0.00909568	1	0.00947522	4	80				
FRMPD1	22844	broad.mit.edu	37	9	37740152	37740152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37740152C>T	ENST00000539465.1	+	15	2220	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	FRMPD1_ENST00000377765.3_Missense_Mutation_p.R543C|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R412C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R365C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	543						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGACAGGCGCCTGGTGAA	0.597																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1627-1629)Cgc>Tgc		FERM and PDZ domain containing 1							63.0	69.0	67.0					9																	37740152		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740152C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1627C>T	9.37:g.37740152C>T	ENSP00000444411:p.Arg543Cys					FRMPD1_ENST00000541302.1_Missense_Mutation_p.R412C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R365C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R543C	p.R543C			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2220	+			543					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1627C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	6.116	0.389730	0.11581	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.18016	3.24;3.24;2.24;2.24	5.76	-0.554	0.11811	.	1.046220	0.07373	N	0.886088	T	0.11067	0.0270	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.37820	-0.9689	10	0.34782	T	0.22	0.2714	10.2033	0.43099	0.0:0.576:0.0:0.424	.	412;543	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	C	543;543;365;412	ENSP00000366995:R543C;ENSP00000444411:R543C;ENSP00000437762:R365C;ENSP00000444804:R412C	ENSP00000366995:R543C	R	+	1	0	FRMPD1	37730152	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-0.015000	0.12634	-0.393000	0.07739	0.655000	0.94253	CGC		0.597	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		35	58	0	0	0	1	0	35	58				
UBE2O	63893	broad.mit.edu	37	17	74394562	74394562	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74394562G>A	ENST00000319380.7	-	11	1951	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	629					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTCCACGTCGTCCCCACTCG	0.607											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1885-1887)gaC>gaT		ubiquitin-conjugating enzyme E2O							168.0	155.0	159.0					17																	74394562		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74394562G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1887C>T	17.37:g.74394562G>A			OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	UBE2O_ENST00000587581.1_5'UTR	p.D629D	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			11	1951	-			629					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.1887C>T	CCDS32742.1																																																																																				0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		39	67	0	0	0	1	0	39	67				
SEMA3A	10371	broad.mit.edu	37	7	83610649	83610649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83610649G>T	ENST00000265362.4	-	14	1954	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P547H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	547					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGCAGTGGGAAAATAGCG	0.408																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1639-1641)cCc>cAc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							58.0	54.0	55.0					7																	83610649		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83610649G>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1640C>A	7.37:g.83610649G>T	ENSP00000265362:p.Pro547His					SEMA3A_ENST00000436949.1_Missense_Mutation_p.P547H	p.P547H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			14	1954	-			547						Missense_Mutation	SNP	ENST00000265362.4	37	c.1640C>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001114	0.93227	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.22134	1.97;1.97	5.97	5.97	0.96955	.	0.047111	0.85682	D	0.000000	T	0.49047	0.1534	M	0.85859	2.78	0.80722	D	1	D	0.55800	0.973	P	0.56648	0.803	T	0.49872	-0.8893	10	0.56958	D	0.05	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	547	Q14563	SEM3A_HUMAN	H	547	ENSP00000265362:P547H;ENSP00000415260:P547H	ENSP00000265362:P547H	P	-	2	0	SEMA3A	83448585	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CCC		0.408	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		11	28	1	0	2.80697e-09	1	3.39963e-09	11	28				
MEIS3	56917	broad.mit.edu	37	19	47920151	47920151	+	Silent	SNP	G	G	A	rs368317403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47920151G>A	ENST00000558555.1	-	3	442	c.255C>T	c.(253-255)gaC>gaT	p.D85D	MEIS3_ENST00000561293.1_Silent_p.D85D|MEIS3_ENST00000441740.2_Silent_p.D85D|MEIS3_ENST00000559524.1_Silent_p.D85D|MEIS3_ENST00000561096.1_Silent_p.D173D|MEIS3_ENST00000331559.5_Silent_p.D85D			Q99687	MEIS3_HUMAN	Meis homeobox 3	85					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCCGGCCCCGTCACGGGGAG	0.617																																						ENST00000331559.5																			0				breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(253-255)gaC>gaT		Meis homeobox 3		G	,	0,4406		0,0,2203	24.0	25.0	25.0		255,255	-6.3	0.2	19		25	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MEIS3	NM_001009813.1,NM_020160.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	85/359,85/422	47920151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47920151G>A	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.255C>T	19.37:g.47920151G>A						MEIS3_ENST00000441740.2_Silent_p.D85D|MEIS3_ENST00000559524.1_Silent_p.D85D|MEIS3_ENST00000558555.1_Silent_p.D85D|MEIS3_ENST00000561096.1_Silent_p.D173D|MEIS3_ENST00000561293.1_Silent_p.D85D	p.D85D	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	3	696	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	85					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	ENST00000558555.1	37	c.255C>T																																																																																					0.617	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		8	8	0	0	0	1	0	8	8				
HERC4	26091	broad.mit.edu	37	10	69750132	69750132	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69750132A>C	ENST00000395198.3	-	14	1716	c.1469T>G	c.(1468-1470)cTt>cGt	p.L490R	HERC4_ENST00000412272.2_Missense_Mutation_p.L490R|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.L490R|HERC4_ENST00000277817.6_Missense_Mutation_p.L380R	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	490					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTTAGGAATAAGATTCTTTTC	0.328																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(1468-1470)cTt>cGt		HECT and RLD domain containing E3 ubiquitin protein ligase 4							65.0	63.0	64.0					10																	69750132		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69750132A>C	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1469T>G	10.37:g.69750132A>C	ENSP00000378624:p.Leu490Arg					HERC4_ENST00000277817.6_Missense_Mutation_p.L380R|HERC4_ENST00000373700.4_Missense_Mutation_p.L490R|HERC4_ENST00000412272.2_Missense_Mutation_p.L490R|HERC4_ENST00000395187.2_3'UTR	p.L490R	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			14	1716	-			490					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.1469T>G	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398869	0.83120	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.57595	0.65;0.39;0.42;0.41	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	M	0.87617	2.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.978;1.0;1.0;1.0	D;D;P;D;D;D	0.87578	0.998;0.998;0.762;0.996;0.998;0.996	T	0.81328	-0.0982	10	0.87932	D	0	.	16.2898	0.82742	1.0:0.0:0.0:0.0	.	490;380;490;340;490;490	Q5GLZ8-3;Q5GLZ8-6;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;.;HERC4_HUMAN	R	380;490;490;490	ENSP00000277817:L380R;ENSP00000416504:L490R;ENSP00000378624:L490R;ENSP00000362804:L490R	ENSP00000277817:L380R	L	-	2	0	HERC4	69420138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.450000	0.90340	2.250000	0.74265	0.482000	0.46254	CTT		0.328	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		9	39	0	0	0	1	0	9	39				
TM4SF19	116211	broad.mit.edu	37	3	196053893	196053893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196053893G>A	ENST00000273695.3	-	3	337	c.212C>T	c.(211-213)gCa>gTa	p.A71V	TM4SF19_ENST00000446879.1_Missense_Mutation_p.A71V|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.A71V|TM4SF19_ENST00000454715.1_Intron|TM4SF19-AS1_ENST00000452051.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	71						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGGATAGCTGCAGTGAGTAC	0.532																																						ENST00000446879.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(211-213)gCa>gTa		transmembrane 4 L six family member 19							88.0	83.0	85.0					3																	196053893		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196053893G>A	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.212C>T	3.37:g.196053893G>A	ENSP00000273695:p.Ala71Val					TM4SF19_ENST00000454715.1_Intron|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A71V	p.A71V			Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	3	337	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		71					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.212C>T	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034325	0.54896	.	.	ENSG00000145107	ENST00000446879;ENST00000273695	T;T	0.33865	1.39;1.39	5.37	4.49	0.54785	.	0.159153	0.42964	D	0.000640	T	0.33962	0.0881	M	0.70595	2.14	0.09310	N	0.999997	P;B	0.41624	0.757;0.346	B;B	0.40602	0.334;0.128	T	0.22208	-1.0223	10	0.13470	T	0.59	-6.802	9.0204	0.36195	0.0983:0.0:0.9017:0.0	.	71;71	C9JCD5;Q96DZ7	.;T4S19_HUMAN	V	71	ENSP00000395280:A71V;ENSP00000273695:A71V	ENSP00000273695:A71V	A	-	2	0	TM4SF19	197538290	0.481000	0.25941	0.491000	0.27477	0.354000	0.29330	2.383000	0.44354	2.528000	0.85240	0.655000	0.94253	GCA		0.532	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		7	17	0	0	0	1	0	7	17				
QSER1	79832	broad.mit.edu	37	11	32955686	32955686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32955686C>T	ENST00000399302.2	+	4	2830	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	QSER1_ENST00000527788.1_Missense_Mutation_p.S593L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	832										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTCTTGGATCGATGTGTTTC	0.363																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(2494-2496)tCg>tTg		glutamine and serine rich 1							90.0	87.0	88.0					11																	32955686		1881	4096	5977	SO:0001583	missense	79832							g.chr11:32955686C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2495C>T	11.37:g.32955686C>T	ENSP00000382241:p.Ser832Leu					QSER1_ENST00000527788.1_Missense_Mutation_p.S593L	p.S832L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	2830	+	Breast(20;0.158)		832					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.2495C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442878	0.83993	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.46819	1.17;0.86	5.6	5.6	0.85130	.	0.102621	0.43416	D	0.000562	T	0.69468	0.3114	M	0.69823	2.125	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.71870	0.975;0.939;0.87	T	0.71748	-0.4499	10	0.87932	D	0	.	19.6131	0.95618	0.0:1.0:0.0:0.0	.	593;593;832	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	L	832;593;593	ENSP00000382241:S832L;ENSP00000432766:S593L	ENSP00000078652:S593L	S	+	2	0	QSER1	32912262	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.652000	0.90054	0.561000	0.74099	TCG		0.363	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		34	61	0	0	0	1	0	34	61				
SYNE2	23224	broad.mit.edu	37	14	64473928	64473928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64473928T>C	ENST00000344113.4	+	31	4777	c.4565T>C	c.(4564-4566)tTg>tCg	p.L1522S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.L1522S|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1522S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1522					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAAGCCTTGGTCACCGAA	0.378																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4564-4566)tTg>tCg		spectrin repeat containing, nuclear envelope 2							151.0	140.0	143.0					14																	64473928		1833	4074	5907	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64473928T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4565T>C	14.37:g.64473928T>C	ENSP00000341781:p.Leu1522Ser					SYNE2_ENST00000344113.4_Missense_Mutation_p.L1522S|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1522S|SYNE2_ENST00000357395.3_5'UTR	p.L1522S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	31	4795	+			1522					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4565T>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	5.771	0.326702	0.10900	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.37752	1.18;1.18;1.18	5.72	2.83	0.33086	.	0.608833	0.14621	N	0.308394	T	0.09468	0.0233	N	0.00707	-1.245	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34453	-0.9828	10	0.06099	T	0.92	.	7.8642	0.29528	0.0:0.618:0.0:0.382	.	1522;1522	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	1522	ENSP00000350719:L1522S;ENSP00000341781:L1522S;ENSP00000452570:L1522S	ENSP00000261678:L1522S	L	+	2	0	SYNE2	63543681	0.008000	0.16893	0.000000	0.03702	0.029000	0.11900	1.129000	0.31381	0.297000	0.22615	0.533000	0.62120	TTG		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		79	106	0	0	0	1	0	79	106				
TRIM51HP	440041	broad.mit.edu	37	11	55064983	55064983	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55064983A>G	ENST00000526016.1	-	0	442					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GGTGGTTTCCATGTTCAGGTT	0.408																																						ENST00000526016.1																			0																																																			0							g.chr11:55064983A>G			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55064983A>G								NR_038174.2						0	442	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.408	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			6	57	0	0	0	1	0	6	57				
FAM171B	165215	broad.mit.edu	37	2	187627518	187627518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187627518C>T	ENST00000304698.5	+	8	2652	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	817						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGGAAGAAGCGAGAGGAACG	0.433																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2449-2451)Cga>Tga		family with sequence similarity 171, member B							80.0	79.0	80.0					2																	187627518		2203	4299	6502	SO:0001587	stop_gained	165215					integral to membrane	DNA binding	g.chr2:187627518C>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2449C>T	2.37:g.187627518C>T	ENSP00000304108:p.Arg817*						p.R817*	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	2652	+			817					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Nonsense_Mutation	SNP	ENST00000304698.5	37	c.2449C>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	39	7.487471	0.98316	.	.	ENSG00000144369	ENST00000304698	.	.	.	6.02	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1622	13.9762	0.64275	0.2538:0.7462:0.0:0.0	.	.	.	.	X	817	.	ENSP00000304108:R817X	R	+	1	2	FAM171B	187335763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.452000	0.35156	2.850000	0.98022	0.650000	0.86243	CGA		0.433	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		16	26	0	0	0	1	0	16	26				
EYA2	2139	broad.mit.edu	37	20	45809567	45809567	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45809567A>G	ENST00000327619.5	+	14	1792	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	EYA2_ENST00000357410.3_Intron|EYA2_ENST00000317304.6_Missense_Mutation_p.Y443C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	473					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGAACATCTACAGTGCAACC	0.527																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1417-1419)tAc>tGc		eyes absent homolog 2 (Drosophila)							95.0	86.0	89.0					20																	45809567		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45809567A>G		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1418A>G	20.37:g.45809567A>G	ENSP00000333640:p.Tyr473Cys					EYA2_ENST00000317304.6_Missense_Mutation_p.Y443C|EYA2_ENST00000357410.3_Intron	p.Y473C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			14	1792	+		Myeloproliferative disorder(115;0.0241)	473					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1418A>G	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128398	0.77549	.	.	ENSG00000064655	ENST00000327619;ENST00000484200;ENST00000317304	D;D	0.97772	-4.53;-4.15	5.51	5.51	0.81932	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99808	1.1039	10	0.87932	D	0	-11.5549	15.6238	0.76833	1.0:0.0:0.0:0.0	.	443;473;473	E7ETN2;A8KAG7;O00167	.;.;EYA2_HUMAN	C	473;443;443	ENSP00000333640:Y473C;ENSP00000321590:Y443C	ENSP00000321590:Y443C	Y	+	2	0	EYA2	45242974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.098000	0.63641	0.459000	0.35465	TAC		0.527	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		20	11	0	0	0	1	0	20	11				
PAK3	5063	broad.mit.edu	37	X	110388120	110388120	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110388120G>A	ENST00000372010.1	+	7	718				PAK3_ENST00000372007.5_Intron|PAK3_ENST00000519681.1_Silent_p.T103T|PAK3_ENST00000518291.1_Silent_p.T103T|PAK3_ENST00000262836.4_Intron|PAK3_ENST00000446737.1_Intron|PAK3_ENST00000417227.1_Silent_p.T103T|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000360648.4_Silent_p.T103T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3						activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GACCTGTGACGGTCGCTTCAA	0.368										TSP Lung(19;0.15)			G|||	5	0.0013245	0.0	0.0	3775	,	,		14933	0.0		0.0	False		,,,				2504	0.0051					ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(307-309)acG>acA		p21 protein (Cdc42/Rac)-activated kinase 3							72.0	51.0	58.0					X																	110388120		1568	3577	5145	SO:0001627	intron_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110388120G>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.277-1629G>A	X.37:g.110388120G>A		TSP Lung(19;0.15)				PAK3_ENST00000372010.1_Intron|PAK3_ENST00000417227.1_Silent_p.T103T|PAK3_ENST00000360648.4_Silent_p.T103T|PAK3_ENST00000372007.4_Intron|PAK3_ENST00000518291.1_Silent_p.T103T|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000446737.1_Intron|PAK3_ENST00000262836.4_Intron	p.T103T			O75914	PAK3_HUMAN			7	751	+			95			Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.309G>A	CCDS48153.1																																																																																				0.368	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		3	6	0	0	0	1	0	3	6				
LMBR1	64327	broad.mit.edu	37	7	156555833	156555833	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156555833A>G	ENST00000353442.5	-	7	824	c.588T>C	c.(586-588)tgT>tgC	p.C196C	LMBR1_ENST00000359422.4_Silent_p.C44C|LMBR1_ENST00000354505.4_Silent_p.C196C|LMBR1_ENST00000540390.1_Silent_p.C175C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	196					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TCAATGATATACAGGAATATA	0.294																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(586-588)tgT>tgC		limb development membrane protein 1							30.0	34.0	33.0					7																	156555833		2196	4273	6469	SO:0001819	synonymous_variant	64327					integral to membrane	receptor activity	g.chr7:156555833A>G	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.588T>C	7.37:g.156555833A>G						LMBR1_ENST00000354505.4_Silent_p.C196C|LMBR1_ENST00000540390.1_Silent_p.C175C|LMBR1_ENST00000359422.4_Silent_p.C44C	p.C196C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	7	824	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	196					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Silent	SNP	ENST00000353442.5	37	c.588T>C	CCDS5945.1																																																																																				0.294	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		4	40	0	0	0	1	0	4	40				
MYO7A	4647	broad.mit.edu	37	11	76893070	76893070	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76893070A>T	ENST00000409709.3	+	24	3250	c.2978A>T	c.(2977-2979)gAg>gTg	p.E993V	MYO7A_ENST00000409619.2_Missense_Mutation_p.E982V|MYO7A_ENST00000458637.2_Missense_Mutation_p.E993V|MYO7A_ENST00000409893.1_Missense_Mutation_p.E993V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	993					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACGAGGATGAGGAGGACCTC	0.612																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2977-2979)gAg>gTg		myosin VIIA							61.0	77.0	72.0					11																	76893070		2141	4215	6356	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76893070A>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2978A>T	11.37:g.76893070A>T	ENSP00000386331:p.Glu993Val					MYO7A_ENST00000409893.1_Missense_Mutation_p.E993V|MYO7A_ENST00000409619.2_Missense_Mutation_p.E982V|MYO7A_ENST00000458637.2_Missense_Mutation_p.E993V	p.E993V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			24	3250	+			993					B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.2978A>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	17.92	3.507638	0.64410	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.88896	-2.37;-2.44;-2.38;-2.4;-2.22	5.15	5.15	0.70609	.	0.132036	0.50627	D	0.000112	D	0.85873	0.5798	L	0.47190	1.495	0.80722	D	1	B;B;B;B	0.19935	0.04;0.021;0.0;0.026	B;B;B;B	0.23419	0.046;0.031;0.006;0.046	T	0.82139	-0.0605	10	0.34782	T	0.22	.	14.9844	0.71336	1.0:0.0:0.0:0.0	.	993;982;993;993	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	V	993;993;993;982;204;992;992;869;992;174	ENSP00000386331:E993V;ENSP00000386689:E993V;ENSP00000392185:E993V;ENSP00000386635:E982V;ENSP00000417017:E174V	ENSP00000345075:E869V	E	+	2	0	MYO7A	76570718	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.147000	0.77382	1.940000	0.56252	0.448000	0.29417	GAG		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	53	0	0	0	1	0	7	53				
PIK3R2	5296	broad.mit.edu	37	19	18273240	18273240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18273240C>T	ENST00000593731.1	+	9	1593	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	PIK3R2_ENST00000222254.8_Missense_Mutation_p.R345W			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	345	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CGAGAAACTCCGGGACACTCC	0.612																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1033-1035)Cgg>Tgg		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							51.0	43.0	46.0					19																	18273240		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18273240C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1033C>T	19.37:g.18273240C>T	ENSP00000471914:p.Arg345Trp					PIK3R2_ENST00000222254.7_Missense_Mutation_p.R345W	p.R345W			O00459	P85B_HUMAN			9	1593	+			345			SH2 1.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1033C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005656	0.74932	.	.	ENSG00000105647	ENST00000222254	D	0.89343	-2.5	4.32	4.32	0.51571	SH2 motif (4);	0.212508	0.40469	N	0.001090	D	0.95297	0.8474	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96317	0.9233	10	0.72032	D	0.01	-14.4588	16.178	0.81874	0.0:1.0:0.0:0.0	.	345	O00459	P85B_HUMAN	W	345	ENSP00000222254:R345W	ENSP00000222254:R345W	R	+	1	2	PIK3R2	18134240	0.998000	0.40836	0.999000	0.59377	0.900000	0.52787	2.693000	0.47027	2.143000	0.66587	0.491000	0.48974	CGG		0.612	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		8	21	0	0	0	1	0	8	21				
CFAP43	80217	broad.mit.edu	37	10	105891158	105891158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105891158C>T	ENST00000357060.3	-	37	4877	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T	WDR96_ENST00000428666.1_Missense_Mutation_p.A1560T|WDR96_ENST00000479392.1_5'Flank	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCTTAGGGCATAATTTGCT	0.358																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4762-4764)Gcc>Acc		WD repeat domain 96							151.0	135.0	141.0					10																	105891158		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105891158C>T																												ENST00000357060.3:c.4762G>A	10.37:g.105891158C>T	ENSP00000349568:p.Ala1588Thr					WDR96_ENST00000428666.1_Missense_Mutation_p.A1560T	p.A1588T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			37	4877	-			1588						Missense_Mutation	SNP	ENST00000357060.3	37	c.4762G>A	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.006|0.006	-2.040036|-2.040036	0.00402|0.00402	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.13657|.	2.59;2.57|.	5.73|5.73	-1.2|-1.2	0.09554|0.09554	.|.	1.844600|.	0.02172|.	N|.	0.059792|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.36383|0.36383	-0.9750|-0.9750	10|5	0.14252|.	T|.	0.57|.	.|.	5.9463|5.9463	0.19221|0.19221	0.0:0.2953:0.2907:0.4141|0.0:0.2953:0.2907:0.4141	.|.	1560;1588|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	T|I	1588;1560|436;919	ENSP00000349568:A1588T;ENSP00000400289:A1560T|.	ENSP00000349568:A1588T|.	A|M	-|-	1|3	0|0	WDR96|WDR96	105881148|105881148	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	0.082000|0.082000	0.14847|0.14847	-0.485000|-0.485000	0.06754|0.06754	-1.152000|-1.152000	0.01820|0.01820	GCC|ATG		0.358	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	69	0	0	0	1	0	8	69				
KCNQ3	3786	broad.mit.edu	37	8	133192544	133192544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133192544C>T	ENST00000388996.4	-	4	1057	c.637G>A	c.(637-639)Gtt>Att	p.V213I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.V213I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V93I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	213					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCCACAGCAACCACTGGCACA	0.582																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(637-639)Gtt>Att		potassium voltage-gated channel, KQT-like subfamily, member 3							102.0	89.0	94.0					8																	133192544		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133192544C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.637G>A	8.37:g.133192544C>T	ENSP00000373648:p.Val213Ile					KCNQ3_ENST00000519445.1_Missense_Mutation_p.V213I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V93I	p.V213I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		4	1057	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		213					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.637G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471699	0.43942	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98400	-4.91;-4.91;-4.91	5.52	5.52	0.82312	Ion transport (1);	0.272968	0.34628	N	0.003804	D	0.94899	0.8351	N	0.10945	0.07	0.37992	D	0.933943	P;P	0.38617	0.64;0.64	B;B	0.42386	0.386;0.386	D	0.95304	0.8406	10	0.32370	T	0.25	-19.7059	14.0714	0.64863	0.0:0.8494:0.1506:0.0	.	213;213	E7ET42;O43525	.;KCNQ3_HUMAN	I	213;93;213;202;92	ENSP00000373648:V213I;ENSP00000429799:V93I;ENSP00000428790:V213I	ENSP00000373648:V213I	V	-	1	0	KCNQ3	133261726	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.044000	0.41241	2.610000	0.88304	0.561000	0.74099	GTT		0.582	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		16	53	0	0	0	1	0	16	53				
RNF216	54476	broad.mit.edu	37	7	5692115	5692115	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5692115G>A	ENST00000425013.2	-	14	2141	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	RNF216_ENST00000469375.1_5'Flank|RNF216_ENST00000389902.3_Silent_p.L696L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	639					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTTCTTTCCAGAGTCCCTGAC	0.478																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1915-1917)ctC>ctT		ring finger protein 216							218.0	211.0	214.0					7																	5692115		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5692115G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1917C>T	7.37:g.5692115G>A						RNF216_ENST00000389902.3_Silent_p.L696L	p.L639L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	14	2141	-		Ovarian(82;0.07)	639					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.1917C>T	CCDS34595.1																																																																																				0.478	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		6	174	0	0	0	1	0	6	174				
C2orf16	84226	broad.mit.edu	37	2	27802252	27802252	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27802252C>A	ENST00000408964.2	+	1	2864	c.2813C>A	c.(2812-2814)cCt>cAt	p.P938H	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	938						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGATGGAACCTTCCCAGAGC	0.403																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2812-2814)cCt>cAt		chromosome 2 open reading frame 16							73.0	74.0	74.0					2																	27802252		1834	4097	5931	SO:0001583	missense	84226							g.chr2:27802252C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2813C>A	2.37:g.27802252C>A	ENSP00000386190:p.Pro938His						p.P938H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2864	+	Acute lymphoblastic leukemia(172;0.155)		938					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2813C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459607	0.26248	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	5.65	-2.96	0.05547	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B	0.27765	0.188	B	0.28638	0.092	T	0.43065	-0.9414	9	0.62326	D	0.03	.	5.271	0.15624	0.0:0.344:0.2956:0.3604	.	938	Q68DN1	CB016_HUMAN	H	938	ENSP00000386190:P938H	ENSP00000386190:P938H	P	+	2	0	C2orf16	27655756	0.978000	0.34361	0.557000	0.28306	0.179000	0.23085	0.155000	0.16362	-0.394000	0.07727	-0.469000	0.05056	CCT		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		5	39	1	0	1.23904e-05	1	1.39987e-05	5	39				
ZNF462	58499	broad.mit.edu	37	9	109687614	109687614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109687614A>G	ENST00000277225.5	+	3	1710	c.1421A>G	c.(1420-1422)gAa>gGa	p.E474G	ZNF462_ENST00000457913.1_Missense_Mutation_p.E474G|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	474					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATGTGACGAATGTCCGTTT	0.468																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1420-1422)gAa>gGa		zinc finger protein 462							108.0	99.0	102.0					9																	109687614		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687614A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1421A>G	9.37:g.109687614A>G	ENSP00000277225:p.Glu474Gly					ZNF462_ENST00000457913.1_Missense_Mutation_p.E474G	p.E474G			Q96JM2	ZN462_HUMAN			3	1710	+			474					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1421A>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709764	0.48517	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.06687	3.27;3.71	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.099999	0.64402	D	0.000002	T	0.19287	0.0463	M	0.64170	1.965	0.80722	D	1	D;P	0.54207	0.965;0.941	P;P	0.53266	0.722;0.531	T	0.00351	-1.1796	9	.	.	.	.	14.6973	0.69132	1.0:0.0:0.0:0.0	.	474;474	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	G	474	ENSP00000277225:E474G;ENSP00000414570:E474G	.	E	+	2	0	ZNF462	108727435	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.891000	0.75639	2.203000	0.70933	0.459000	0.35465	GAA		0.468	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		17	44	0	0	0	1	0	17	44				
CDC42BPB	9578	broad.mit.edu	37	14	103410669	103410669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410669G>A	ENST00000361246.2	-	30	4255	c.3967C>T	c.(3967-3969)Ccg>Tcg	p.P1323S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGTTTCCGGAAGCTTGATG	0.562																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3967-3969)Ccg>Tcg		CDC42 binding protein kinase beta (DMPK-like)							61.0	57.0	59.0					14																	103410669		2203	4299	6502	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103410669G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3967C>T	14.37:g.103410669G>A	ENSP00000355237:p.Pro1323Ser						p.P1323S	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4255	-		Melanoma(154;0.155)	1323			CNH.			Missense_Mutation	SNP	ENST00000361246.2	37	c.3967C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813671	0.32053	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.04654	3.58	5.24	5.24	0.73138	Citron-like (3);	0.153534	0.64402	D	0.000014	T	0.09686	0.0238	M	0.71581	2.175	0.46901	D	0.999249	B;B	0.16166	0.004;0.016	B;B	0.26310	0.026;0.068	T	0.06716	-1.0811	10	0.32370	T	0.25	.	15.7697	0.78157	0.0:0.1457:0.8543:0.0	.	1323;1323	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	S	1323;434	ENSP00000355237:P1323S	ENSP00000355237:P1323S	P	-	1	0	CDC42BPB	102480422	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	3.286000	0.51724	2.603000	0.88011	0.655000	0.94253	CCG		0.562	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		17	14	0	0	0	1	0	17	14				
RNF2	6045	broad.mit.edu	37	1	185067296	185067296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067296G>T	ENST00000367510.3	+	5	845	c.557G>T	c.(556-558)aGc>aTc	p.S186I	RNF2_ENST00000367509.4_Missense_Mutation_p.S114I	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	186					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCCACACATAGCAATCAGGAA	0.433																																						ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(556-558)aGc>aTc		ring finger protein 2							152.0	125.0	134.0					1																	185067296		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185067296G>T	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.557G>T	1.37:g.185067296G>T	ENSP00000356480:p.Ser186Ile					RNF2_ENST00000367509.4_Missense_Mutation_p.S114I	p.S186I	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	5	845	+		Breast(1374;0.000496)	186					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.557G>T	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520480	0.64747	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T	0.23348	1.91;1.91	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.40543	1.245	0.25675	N	0.985852	D;B	0.61697	0.99;0.251	D;B	0.66497	0.944;0.058	T	0.31251	-0.9950	10	0.16896	T	0.51	-20.1597	18.8139	0.92070	0.0:0.0:1.0:0.0	.	114;186	B3KRH1;Q99496	.;RING2_HUMAN	I	186;114;186	ENSP00000356480:S186I;ENSP00000400722:S186I	ENSP00000356479:S114I	S	+	2	0	RNF2	183333919	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.154000	0.94694	2.423000	0.82170	0.591000	0.81541	AGC		0.433	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		8	66	1	0	0.00307968	1	0.00325696	8	66				
ZFC3H1	196441	broad.mit.edu	37	12	72024615	72024615	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72024615T>C	ENST00000378743.3	-	17	3948	c.3590A>G	c.(3589-3591)gAt>gGt	p.D1197G		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1197					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGACAATCATCATCATTACA	0.333																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3589-3591)gAt>gGt		zinc finger, C3H1-type containing							111.0	102.0	105.0					12																	72024615		1954	4156	6110	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72024615T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3590A>G	12.37:g.72024615T>C	ENSP00000368017:p.Asp1197Gly						p.D1197G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			17	3948	-			1197					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.3590A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243505	0.79912	.	.	ENSG00000133858	ENST00000378743	T	0.35236	1.32	4.81	4.81	0.61882	Putative zinc-finger domain (1);	0.123611	0.52532	D	0.000063	T	0.44953	0.1318	L	0.33485	1.01	0.80722	D	1	D	0.53462	0.96	P	0.59221	0.854	T	0.41645	-0.9497	10	0.54805	T	0.06	.	14.6461	0.68762	0.0:0.0:0.0:1.0	.	1197	O60293	ZC3H1_HUMAN	G	1197	ENSP00000368017:D1197G	ENSP00000368017:D1197G	D	-	2	0	ZFC3H1	70310882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.532000	0.67154	1.936000	0.56123	0.455000	0.32223	GAT		0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		3	58	0	0	0	1	0	3	58				
XPNPEP1	7511	broad.mit.edu	37	10	111642355	111642355	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111642355C>T	ENST00000502935.1	-	10	995	c.876G>A	c.(874-876)gaG>gaA	p.E292E	XPNPEP1_ENST00000322238.8_Silent_p.E292E|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Silent_p.E178E|XPNPEP1_ENST00000369680.4_Silent_p.E249E					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GAAGCAGGTGCTCCTTCACAC	0.557																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(874-876)gaG>gaA		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							111.0	103.0	106.0					10																	111642355		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111642355C>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.876G>A	10.37:g.111642355C>T						XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Silent_p.E292E|XPNPEP1_ENST00000369680.4_Silent_p.E249E|XPNPEP1_ENST00000369683.1_Silent_p.E178E	p.E292E			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	10	995	-		Breast(234;0.174)	249						Silent	SNP	ENST00000502935.1	37	c.876G>A	CCDS7560.2																																																																																				0.557	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			29	48	0	0	0	1	0	29	48				
NDUFS7	374291	broad.mit.edu	37	19	1390944	1390944	+	Silent	SNP	C	C	T	rs539347670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1390944C>T	ENST00000233627.9	+	5	599	c.303C>T	c.(301-303)taC>taT	p.Y101Y	NDUFS7_ENST00000546283.1_Silent_p.Y101Y|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000539480.1_Silent_p.Y101Y|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000414651.2_Silent_p.Y131Y|NDUFS7_ENST00000313408.7_Silent_p.Y101Y|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	101					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	CACCCCGCTACGACATGGACC	0.667																																						ENST00000313408.7																			0				ovary(1)	1						c.(301-303)taC>taT		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						56.0	54.0	55.0					19																	1390944		2203	4298	6501	SO:0001819	synonymous_variant	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1390944C>T	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.303C>T	19.37:g.1390944C>T						NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000539480.1_Silent_p.Y101Y|NDUFS7_ENST00000546283.1_Silent_p.Y101Y|NDUFS7_ENST00000233627.9_Silent_p.Y101Y|NDUFS7_ENST00000414651.2_Silent_p.Y131Y	p.Y101Y			O75251	NDUS7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	326	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	101					B3KRI2|Q2T9H7|Q9BV17	Silent	SNP	ENST00000233627.9	37	c.303C>T	CCDS12063.1																																																																																				0.667	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		4	37	0	0	0	1	0	4	37				
ZCCHC8	55596	broad.mit.edu	37	12	122958464	122958464	+	Silent	SNP	C	C	T	rs568770129		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122958464C>T	ENST00000336229.4	-	14	1834	c.1704G>A	c.(1702-1704)ccG>ccA	p.P568P	ZCCHC8_ENST00000536306.1_Silent_p.P330P|ZCCHC8_ENST00000538116.1_Silent_p.P179P|ZCCHC8_ENST00000543897.1_Silent_p.P330P	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	568					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTTTCCCTCCGGGACAGGGA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21981	0.0		0.0	False		,,,				2504	0.0					ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(988-990)ccG>ccA		zinc finger, CCHC domain containing 8							209.0	202.0	204.0					12																	122958464		1978	4178	6156	SO:0001819	synonymous_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958464C>T	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1704G>A	12.37:g.122958464C>T						ZCCHC8_ENST00000538116.1_Silent_p.P179P|ZCCHC8_ENST00000536306.1_Silent_p.P330P|ZCCHC8_ENST00000336229.4_Silent_p.P568P	p.P330P			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3345	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		568					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.990G>A																																																																																					0.502	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		103	172	0	0	0	1	0	103	172				
IGLV2-23	28813	broad.mit.edu	37	22	23040692	23040692	+	RNA	SNP	A	A	C	rs539549138		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23040692A>C	ENST00000390306.2	+	0	302				D86994.1_ENST00000385095.1_RNA					immunoglobulin lambda variable 2-23																		ACCAGCAGTGATGTTGGGAGT	0.567													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15837	0.0		0.0	False		,,,				2504	0.0					ENST00000390306.2																			0																				182.0	216.0	205.0					22																	23040692		2027	4230	6257			0							g.chr22:23040692A>C	X14616		22q11.2	2012-02-08			ENSG00000211660	ENSG00000211660		"""Immunoglobulins / IGL locus"""	5890	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151234		22.37:g.23040692A>C														0	302	+									RNA	SNP	ENST00000390306.2	37																																																																																						0.567	IGLV2-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321839.2	NG_000002		80	154	0	0	0	1	0	80	154				
RYR2	6262	broad.mit.edu	37	1	237777567	237777567	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237777567C>A	ENST00000366574.2	+	37	5456	c.5139C>A	c.(5137-5139)tcC>tcA	p.S1713S	RYR2_ENST00000360064.6_Silent_p.S1711S|RYR2_ENST00000542537.1_Silent_p.S1697S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1713	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTGAGCTCCTATGCCACTG	0.507																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5137-5139)tcC>tcA		ryanodine receptor 2 (cardiac)							61.0	61.0	61.0					1																	237777567		2164	4264	6428	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777567C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5139C>A	1.37:g.237777567C>A						RYR2_ENST00000542537.1_Silent_p.S1697S|RYR2_ENST00000360064.6_Silent_p.S1711S	p.S1713S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5456	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1713			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5139C>A	CCDS55691.1																																																																																				0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	34	1	0	0.150653	1	0.152692	4	34				
TCF19	6941	broad.mit.edu	37	6	31129330	31129330	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31129330G>A	ENST00000376257.3	+	3	1099	c.345G>A	c.(343-345)tcG>tcA	p.S115S	TCF19_ENST00000376255.4_Silent_p.S115S|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	115					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCAGCCCCTCGGAGTTCTACT	0.562																																						ENST00000376257.3																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(343-345)tcG>tcA		transcription factor 19							92.0	99.0	97.0					6																	31129330		1166	2505	3671	SO:0001819	synonymous_variant	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31129330G>A	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.345G>A	6.37:g.31129330G>A						TCF19_ENST00000376255.4_Silent_p.S115S|TCF19_ENST00000496421.1_3'UTR	p.S115S	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			3	1099	+			115					A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Silent	SNP	ENST00000376257.3	37	c.345G>A	CCDS43446.1																																																																																				0.562	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		9	77	0	0	0	1	0	9	77				
TAS2R41	259287	broad.mit.edu	37	7	143175323	143175323	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175323C>A	ENST00000408916.1	+	1	358	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	120					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCCACCTTCCTGTGGCTGAA	0.522																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(358-360)Ctg>Atg		taste receptor, type 2, member 41							68.0	67.0	68.0					7																	143175323		1978	4166	6144	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175323C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.358C>A	7.37:g.143175323C>A	ENSP00000386201:p.Leu120Met					EPHA1-AS1_ENST00000429289.1_RNA	p.L120M	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	358	+	Melanoma(164;0.15)		120					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.358C>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609360	0.66558	.	.	ENSG00000221855	ENST00000408916	T	0.02015	4.5	5.7	5.7	0.88788	.	0.310854	0.26176	U	0.025896	T	0.14743	0.0356	M	0.88105	2.93	0.32264	N	0.569799	D	0.89917	1.0	D	0.81914	0.995	T	0.05053	-1.0909	10	0.72032	D	0.01	.	12.2844	0.54783	0.1694:0.8306:0.0:0.0	.	120	P59536	T2R41_HUMAN	M	120	ENSP00000386201:L120M	ENSP00000386201:L120M	L	+	1	2	TAS2R41	142885445	0.976000	0.34144	1.000000	0.80357	0.958000	0.62258	0.391000	0.20784	2.682000	0.91365	0.655000	0.94253	CTG		0.522	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			13	60	1	0	4.3838e-07	1	5.12524e-07	13	60				
PNCK	139728	broad.mit.edu	37	X	152938140	152938140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152938140G>A	ENST00000370150.1	-	3	259	c.81C>T	c.(79-81)tcC>tcT	p.S27S	PNCK_ENST00000340888.3_Silent_p.S27S|PNCK_ENST00000370145.4_Silent_p.S44S|PNCK_ENST00000370142.1_Silent_p.S27S|PNCK_ENST00000393831.2_Silent_p.S27S|PNCK_ENST00000447676.2_Silent_p.S110S|PNCK_ENST00000475172.1_5'UTR			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACCACCTCGGAGAAGGCAC	0.701																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(79-81)tcC>tcT		pregnancy up-regulated nonubiquitous CaM kinase							16.0	17.0	17.0					X																	152938140		2186	4272	6458	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938140G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.81C>T	X.37:g.152938140G>A						PNCK_ENST00000340888.3_Silent_p.S27S|PNCK_ENST00000370142.1_Silent_p.S27S|PNCK_ENST00000370150.1_Silent_p.S27S|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.S110S|PNCK_ENST00000370145.4_Silent_p.S44S	p.S27S	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			3	515	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		27			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.81C>T																																																																																					0.701	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		16	24	0	0	0	1	0	16	24				
CD163L1	283316	broad.mit.edu	37	12	7519886	7519886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7519886G>T	ENST00000313599.3	-	18	4282	c.4225C>A	c.(4225-4227)Cat>Aat	p.H1409N	CD163L1_ENST00000416109.2_Missense_Mutation_p.H1419N|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1409						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCATCTCATGGAATAAATTC	0.488																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4225-4227)Cat>Aat		CD163 molecule-like 1							75.0	67.0	70.0					12																	7519886		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7519886G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4225C>A	12.37:g.7519886G>T	ENSP00000315945:p.His1409Asn					CD163L1_ENST00000416109.2_Missense_Mutation_p.H1419N|CD163L1_ENST00000396630.1_Intron	p.H1409N			Q9NR16	C163B_HUMAN			18	4282	-			1409					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.4225C>A	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.011|2.011	-0.427093|-0.427093	0.04701|0.04701	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109|ENST00000539726	T;T|.	0.01304|.	5.03;5.03|.	1.93|1.93	1.93|1.93	0.25924|0.25924	.|.	.|.	.|.	.|.	.|.	T|T	0.17959|0.17959	0.0431|0.0431	N|N	0.08118|0.08118	0|0	0.21675|0.21675	N|N	0.999595|0.999595	B;B|.	0.19817|.	0.039;0.003|.	B;B|.	0.15870|.	0.014;0.004|.	T|T	0.24548|0.24548	-1.0157|-1.0157	9|5	0.17832|.	T|.	0.49|.	.|.	7.7937|7.7937	0.29135|0.29135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1419;1409|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	N|Q	1409;1419|64	ENSP00000315945:H1409N;ENSP00000393474:H1419N|.	ENSP00000315945:H1409N|.	H|P	-|-	1|2	0|0	CD163L1|CD163L1	7411153|7411153	0.028000|0.028000	0.19301|0.19301	0.003000|0.003000	0.11579|0.11579	0.008000|0.008000	0.06430|0.06430	1.197000|1.197000	0.32211|0.32211	0.996000|0.996000	0.38943|0.38943	0.555000|0.555000	0.69702|0.69702	CAT|CCA		0.488	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		15	26	1	0	6.49762e-13	1	8.19883e-13	15	26				
VPS13D	55187	broad.mit.edu	37	1	12343686	12343686	+	Missense_Mutation	SNP	G	G	A	rs149109225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12343686G>A	ENST00000358136.3	+	21	5657	c.5527G>A	c.(5527-5529)Gca>Aca	p.A1843T	VPS13D_ENST00000356315.4_Missense_Mutation_p.A1843T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGACAACCACGCAATGAGGCT	0.483																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(5527-5529)Gca>Aca		vacuolar protein sorting 13 homolog D (S. cerevisiae)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	131.0	128.0	129.0		5527,5527	5.9	1.0	1	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	VPS13D	NM_015378.2,NM_018156.2	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1843/4389,1843/4364	12343686	2,13004	2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12343686G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5527G>A	1.37:g.12343686G>A	ENSP00000350854:p.Ala1843Thr					VPS13D_ENST00000356315.4_Missense_Mutation_p.A1843T	p.A1843T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	21	5657	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1843						Missense_Mutation	SNP	ENST00000358136.3	37	c.5527G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144404	0.57044	0.0	2.33E-4	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.54866	0.55;0.56	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	L	0.60455	1.87	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.55965	0.788;0.543	T	0.60469	-0.7257	9	.	.	.	.	14.4696	0.67506	0.0698:0.0:0.9302:0.0	.	1843;1843	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	T	1843	ENSP00000348666:A1843T;ENSP00000350854:A1843T	.	A	+	1	0	VPS13D	12266273	1.000000	0.71417	0.996000	0.52242	0.149000	0.21700	7.658000	0.83755	2.813000	0.96785	0.561000	0.74099	GCA		0.483	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		45	77	0	0	0	1	0	45	77				
FMO4	2329	broad.mit.edu	37	1	171310771	171310771	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171310771G>T	ENST00000367749.3	+	10	1800	c.1470G>T	c.(1468-1470)tgG>tgT	p.W490C		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	490					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACCCAGTGGGACAGAACAT	0.488																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1468-1470)tgG>tgT		flavin containing monooxygenase 4							84.0	78.0	80.0					1																	171310771		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171310771G>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1470G>T	1.37:g.171310771G>T	ENSP00000356723:p.Trp490Cys						p.W490C	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			10	1800	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		490					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.1470G>T	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918850	0.73098	.	.	ENSG00000076258	ENST00000367749	T	0.55234	0.53	5.76	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.74262	-0.3722	10	0.37606	T	0.19	-9.0567	14.3129	0.66429	0.0715:0.0:0.9285:0.0	.	490	P31512	FMO4_HUMAN	C	490	ENSP00000356723:W490C	ENSP00000356723:W490C	W	+	3	0	FMO4	169577395	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.601000	0.98297	1.432000	0.47375	0.655000	0.94253	TGG		0.488	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		11	49	1	0	3.86212e-05	1	4.30401e-05	11	49				
LARP4	113251	broad.mit.edu	37	12	50829388	50829388	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829388A>G	ENST00000398473.2	+	5	628	c.516A>G	c.(514-516)ctA>ctG	p.L172L	LARP4_ENST00000522085.1_Silent_p.L172L|LARP4_ENST00000293618.8_Silent_p.L172L|LARP4_ENST00000518561.1_Silent_p.L102L|LARP4_ENST00000429001.3_Silent_p.L178L|LARP4_ENST00000518444.1_Silent_p.L171L|LARP4_ENST00000347328.5_Silent_p.L172L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	172	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCCTGATCTAATTCTTGAAG	0.294																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(514-516)ctA>ctG		La ribonucleoprotein domain family, member 4							92.0	88.0	90.0					12																	50829388		1804	4065	5869	SO:0001819	synonymous_variant	113251						nucleotide binding|RNA binding	g.chr12:50829388A>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.516A>G	12.37:g.50829388A>G						LARP4_ENST00000293618.8_Silent_p.L172L|LARP4_ENST00000518444.1_Silent_p.L171L|LARP4_ENST00000518561.1_Silent_p.L102L|LARP4_ENST00000522085.1_Silent_p.L172L|LARP4_ENST00000429001.3_Silent_p.L178L|LARP4_ENST00000347328.5_Silent_p.L172L	p.L172L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			5	628	+			172			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	37	c.516A>G	CCDS41782.1																																																																																				0.294	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		4	57	0	0	0	1	0	4	57				
SNAPC4	6621	broad.mit.edu	37	9	139278098	139278098	+	Missense_Mutation	SNP	C	C	T	rs145651274		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139278098C>T	ENST00000298532.2	-	15	1891	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTCCGCCGCCGCCTCCGGAG	0.657																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1522-1524)cGg>cAg		small nuclear RNA activating complex, polypeptide 4, 190kDa		C	GLN/ARG	0,4302		0,0,2151	18.0	22.0	21.0		1523	3.8	0.0	9	dbSNP_134	21	1,8443		0,1,4221	no	missense	SNAPC4	NM_003086.2	43	0,1,6372	TT,TC,CC		0.0118,0.0,0.0078	benign	508/1470	139278098	1,12745	2151	4222	6373	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139278098C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1523G>A	9.37:g.139278098C>T	ENSP00000298532:p.Arg508Gln						p.R508Q	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1891	-		Myeloproliferative disorder(178;0.0511)	508						Missense_Mutation	SNP	ENST00000298532.2	37	c.1523G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813475	0.50527	0.0	1.18E-4	ENSG00000165684	ENST00000298532	T	0.25250	1.81	3.85	3.85	0.44370	Homeodomain-like (1);	0.706306	0.10480	N	0.669648	T	0.19087	0.0458	L	0.42245	1.32	0.09310	N	1	P	0.39624	0.681	B	0.24701	0.055	T	0.08432	-1.0722	10	0.39692	T	0.17	-18.3271	11.9746	0.53083	0.0:1.0:0.0:0.0	.	508	Q5SXM2	SNPC4_HUMAN	Q	508	ENSP00000298532:R508Q	ENSP00000298532:R508Q	R	-	2	0	SNAPC4	138397919	0.001000	0.12720	0.007000	0.13788	0.426000	0.31534	0.769000	0.26604	2.081000	0.62600	0.561000	0.74099	CGG		0.657	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		15	14	0	0	0	1	0	15	14				
VAC14	55697	broad.mit.edu	37	16	70796894	70796894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70796894C>T	ENST00000261776.5	-	11	1455	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	399					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.G399W(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCACGATCCCGTCGAGGTGA	0.557																																						ENST00000261776.5																			1	Substitution - Missense(1)	p.G399W(1)	pancreas(1)	breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1195-1197)Ggg>Agg		Vac14 homolog (S. cerevisiae)							119.0	91.0	101.0					16																	70796894		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70796894C>T	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1195G>A	16.37:g.70796894C>T	ENSP00000261776:p.Gly399Arg					VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	p.G399R	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			11	1455	-		Ovarian(137;0.0699)	399					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.1195G>A	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846730	0.71603	.	.	ENSG00000103043	ENST00000261776	T	0.66638	-0.22	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.044027	0.85682	D	0.000000	T	0.56601	0.1996	L	0.50333	1.59	0.80722	D	1	P	0.46912	0.886	B	0.30495	0.116	T	0.58393	-0.7644	10	0.18276	T	0.48	-26.6302	20.0826	0.97783	0.0:1.0:0.0:0.0	.	399	Q08AM6	VAC14_HUMAN	R	399	ENSP00000261776:G399R	ENSP00000261776:G399R	G	-	1	0	VAC14	69354395	1.000000	0.71417	0.961000	0.40146	0.874000	0.50279	7.487000	0.81328	2.746000	0.94184	0.655000	0.94253	GGG		0.557	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		5	43	0	0	0	1	0	5	43				
LMLN	89782	broad.mit.edu	37	3	197762722	197762722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197762722G>T	ENST00000330198.4	+	15	1697	c.1675G>T	c.(1675-1677)Ggt>Tgt	p.G559C	LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000482695.1_Missense_Mutation_p.G544C|LMLN_ENST00000420910.2_Missense_Mutation_p.G596C|LMLN_ENST00000332636.5_Missense_Mutation_p.G507C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	559					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCCTCAAGGTCTGAAAGT	0.383																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1675-1677)Ggt>Tgt		leishmanolysin-like (metallopeptidase M8 family)							104.0	103.0	103.0					3																	197762722		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197762722G>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1675G>T	3.37:g.197762722G>T	ENSP00000328829:p.Gly559Cys					LMLN_ENST00000482695.1_Missense_Mutation_p.G544C|LMLN_ENST00000420910.2_Missense_Mutation_p.G596C|LMLN_ENST00000332636.5_Missense_Mutation_p.G507C	p.G559C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	15	1697	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	559					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1675G>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874750	0.72180	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.28	5.28	0.74379	.	0.054494	0.64402	D	0.000001	T	0.61198	0.2328	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.986;1.0;0.992;0.987	T	0.59762	-0.7393	10	0.44086	T	0.13	-16.3567	16.4673	0.84083	0.0:0.0:1.0:0.0	.	559;507;596;588;544	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	C	544;559;596;507	ENSP00000418324:G544C;ENSP00000328829:G559C;ENSP00000410926:G596C;ENSP00000328611:G507C	ENSP00000328829:G559C	G	+	1	0	LMLN	199247119	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.103000	0.89550	2.452000	0.82932	0.650000	0.86243	GGT		0.383	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		7	86	1	0	1	1	1	7	86				
BUB3	9184	broad.mit.edu	37	10	124921758	124921758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124921758G>A	ENST00000368865.4	+	6	792	c.583G>A	c.(583-585)Gta>Ata	p.V195I	BUB3_ENST00000538238.1_Missense_Mutation_p.V115I|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.V195I	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	195					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GCAGGGTTATGTATTAAGCTC	0.413																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(583-585)Gta>Ata		BUB3 mitotic checkpoint protein							205.0	224.0	218.0					10																	124921758		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124921758G>A	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.583G>A	10.37:g.124921758G>A	ENSP00000357858:p.Val195Ile					BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.V195I|BUB3_ENST00000538238.1_Missense_Mutation_p.V115I	p.V195I	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN			6	792	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	195					A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.583G>A	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776058	0.90195	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.71341	-0.56;1.51;-0.56;-0.56	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83510	0.5270	M	0.87682	2.9	0.80722	D	1	P;D	0.61697	0.944;0.99	P;P	0.54312	0.52;0.748	D	0.85465	0.1169	10	0.54805	T	0.06	-7.3891	19.762	0.96323	0.0:0.0:1.0:0.0	.	195;195	O43684;O43684-2	BUB3_HUMAN;.	I	195;115;195;195	ENSP00000357858:V195I;ENSP00000444354:V115I;ENSP00000357851:V195I;ENSP00000383941:V195I	ENSP00000357851:V195I	V	+	1	0	BUB3	124911748	1.000000	0.71417	0.950000	0.38849	0.956000	0.61745	9.767000	0.98960	2.741000	0.93983	0.650000	0.86243	GTA		0.413	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			8	310	0	0	0	1	0	8	310				
NTNG2	84628	broad.mit.edu	37	9	135073845	135073845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135073845C>T	ENST00000393229.3	+	3	1482	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	NTNG2_ENST00000372179.3_Missense_Mutation_p.R236W|NTNG2_ENST00000393228.4_Missense_Mutation_p.R236W|NTNG2_ENST00000360670.3_Missense_Mutation_p.R236W	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	236	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCTACACGCGGCTGGAGAG	0.672																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(706-708)Cgg>Tgg		netrin G2							55.0	57.0	56.0					9																	135073845		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073845C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.706C>T	9.37:g.135073845C>T	ENSP00000376921:p.Arg236Trp					NTNG2_ENST00000360670.3_Missense_Mutation_p.R236W|NTNG2_ENST00000393228.4_Missense_Mutation_p.R236W|NTNG2_ENST00000372179.3_Missense_Mutation_p.R236W	p.R236W	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1482	+			236			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.706C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218422	0.79464	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.70869	0.73;0.97;0.9;-0.52	5.22	3.09	0.35607	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	L	0.56769	1.78	0.52099	D	0.999948	D	0.89917	1.0	D	0.85130	0.997	T	0.82983	-0.0186	10	0.87932	D	0	.	14.3736	0.66857	0.2879:0.7121:0.0:0.0	.	236	Q96CW9	NTNG2_HUMAN	W	236	ENSP00000376921:R236W;ENSP00000376920:R236W;ENSP00000353888:R236W;ENSP00000361252:R236W	ENSP00000353888:R236W	R	+	1	2	NTNG2	134063666	0.833000	0.29383	1.000000	0.80357	0.966000	0.64601	1.497000	0.35649	1.119000	0.41883	0.561000	0.74099	CGG		0.672	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		23	51	0	0	0	1	0	23	51				
ABCA13	154664	broad.mit.edu	37	7	48319206	48319206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48319206G>T	ENST00000435803.1	+	18	8439	c.8415G>T	c.(8413-8415)caG>caT	p.Q2805H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2805					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTTGAGTCAGAATATAACTC	0.328																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8413-8415)caG>caT		ATP-binding cassette, sub-family A (ABC1), member 13							56.0	57.0	57.0					7																	48319206		1802	4072	5874	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319206G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8415G>T	7.37:g.48319206G>T	ENSP00000411096:p.Gln2805His						p.Q2805H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	8439	+			2805					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8415G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295149	0.23564	.	.	ENSG00000179869	ENST00000435803	T	0.59906	0.23	5.4	2.45	0.29901	.	0.826477	0.10396	N	0.679845	T	0.38188	0.1031	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30001	-0.9993	10	0.87932	D	0	.	3.2823	0.06920	0.0973:0.1801:0.5584:0.1642	.	2805	Q86UQ4	ABCAD_HUMAN	H	2805	ENSP00000411096:Q2805H	ENSP00000411096:Q2805H	Q	+	3	2	ABCA13	48289752	0.000000	0.05858	0.002000	0.10522	0.207000	0.24258	0.224000	0.17738	1.256000	0.44068	0.650000	0.86243	CAG		0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	104	1	0	0.217242	1	0.218821	5	104				
SCO1	6341	broad.mit.edu	37	17	10590075	10590075	+	Missense_Mutation	SNP	G	G	T	rs199666193		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10590075G>T	ENST00000255390.5	-	5	800	c.740C>A	c.(739-741)cCt>cAt	p.P247H	CTC-297N7.10_ENST00000584139.1_RNA|SCO1_ENST00000577427.1_Missense_Mutation_p.P216H	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	247					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CTTGGGGCCAGGGCTGTAATA	0.443																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(739-741)cCt>cAt		SCO1 cytochrome c oxidase assembly protein							167.0	161.0	163.0					17																	10590075		2203	4300	6503	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10590075G>T	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.740C>A	17.37:g.10590075G>T	ENSP00000255390:p.Pro247His					SCO1_ENST00000577427.1_Missense_Mutation_p.P216H	p.P247H	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			5	800	-			247					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.740C>A	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746498	0.69418	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.93906	-3.31	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.211734	0.50627	D	0.000105	D	0.94499	0.8229	L	0.39085	1.19	0.41782	D	0.98982	D;D	0.69078	0.997;0.992	D;D	0.70227	0.968;0.961	D	0.94269	0.7509	10	0.49607	T	0.09	-10.8003	15.8828	0.79216	0.0:0.0:0.8565:0.1434	.	216;247	A8MY34;O75880	.;SCO1_HUMAN	H	247;216	ENSP00000255390:P247H	ENSP00000255390:P247H	P	-	2	0	SCO1	10530800	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.319000	0.65835	2.788000	0.95919	0.555000	0.69702	CCT		0.443	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		11	108	1	0	5.50884e-06	1	6.28354e-06	11	108				
ADSL	158	broad.mit.edu	37	22	40745930	40745930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745930G>A	ENST00000216194.7	+	2	304	c.248G>A	c.(247-249)cGt>cAt	p.R83H	ADSL_ENST00000454266.2_Missense_Mutation_p.R83H|ADSL_ENST00000342312.6_Missense_Mutation_p.R83H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	83					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAGAGAAACGTTTACGACAT	0.463																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(247-249)cGt>cAt		adenylosuccinate lyase							161.0	121.0	135.0					22																	40745930		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40745930G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.248G>A	22.37:g.40745930G>A	ENSP00000216194:p.Arg83His					ADSL_ENST00000342312.6_Missense_Mutation_p.R83H|ADSL_ENST00000454266.2_Missense_Mutation_p.R83H	p.R83H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			2	304	+			83					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.248G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433972	0.25813	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.95238	-3.65;-3.65;-3.58	5.59	-2.87	0.05700	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.542440	0.19056	N	0.123894	D	0.89476	0.6726	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.77178	-0.2683	10	0.52906	T	0.07	-0.0423	12.6194	0.56595	0.5066:0.0:0.4934:0.0	.	83;83;83;83	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	H	83	ENSP00000216194:R83H;ENSP00000390107:R83H;ENSP00000341429:R83H	ENSP00000216194:R83H	R	+	2	0	ADSL	39075876	0.002000	0.14202	0.000000	0.03702	0.460000	0.32559	0.496000	0.22499	-0.770000	0.04614	-1.652000	0.00757	CGT		0.463	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		23	32	0	0	0	1	0	23	32				
CDK12	51755	broad.mit.edu	37	17	37627716	37627716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37627716C>A	ENST00000447079.4	+	2	1664	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	CDK12_ENST00000430627.2_Missense_Mutation_p.P544H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	544					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTACTACCCCTCCACCTCAG	0.532			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1630-1632)cCt>cAt		cyclin-dependent kinase 12							185.0	182.0	183.0					17																	37627716		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627716C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1631C>A	17.37:g.37627716C>A	ENSP00000398880:p.Pro544His	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.P544H	p.P544H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1664	+			544					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1631C>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164562	0.57476	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70986	-0.53;-0.52	5.89	5.89	0.94794	.	0.000000	0.48767	D	0.000165	T	0.76378	0.3979	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.78635	-0.2127	10	0.62326	D	0.03	-10.7187	19.2499	0.93919	0.0:1.0:0.0:0.0	.	543;544;544	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	544	ENSP00000407720:P544H;ENSP00000398880:P544H	ENSP00000407720:P544H	P	+	2	0	CDK12	34881242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.871000	0.69628	2.793000	0.96121	0.655000	0.94253	CCT		0.532	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		17	154	1	0	1.15919e-05	1	1.31461e-05	17	154				
CNTNAP4	85445	broad.mit.edu	37	16	76350360	76350360	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350360A>C	ENST00000476707.1	+	1	284	c.145A>C	c.(145-147)Agt>Cgt	p.S49R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S45R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S45R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S21R			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	46	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATCCTTCAGCAGTTCTTCCGA	0.498																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(133-135)Agt>Cgt		contactin associated protein-like 4							117.0	88.0	97.0					16																	76350360		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76350360A>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.145A>C	16.37:g.76350360A>C	ENSP00000417628:p.Ser49Arg					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S45R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S49R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S21R	p.S45R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			3	518	+			46			F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.133A>C		.	.	.	.	.	.	.	.	.	.	A	15.19	2.759541	0.49468	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	4.39	3.21	0.36854	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.163970	0.29100	N	0.013142	D	0.98520	0.9506	.	.	.	0.44061	D	0.996804	D;D;D;D	0.89917	0.998;0.998;1.0;0.999	D;D;D;D	0.81914	0.991;0.984;0.995;0.986	D	0.98442	1.0587	9	0.87932	D	0	.	8.5798	0.33621	0.8277:0.0:0.0:0.1723	.	21;49;21;46	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	R	45;45;21;49	ENSP00000306893:S45R;ENSP00000439733:S45R;ENSP00000418741:S21R;ENSP00000417628:S49R	ENSP00000306893:S45R	S	+	1	0	CNTNAP4	74907861	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	4.193000	0.58385	1.974000	0.57490	0.533000	0.62120	AGT		0.498	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		9	28	0	0	0	1	0	9	28				
SDK2	54549	broad.mit.edu	37	17	71381994	71381994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71381994G>A	ENST00000392650.3	-	32	4561	c.4561C>T	c.(4561-4563)Cga>Tga	p.R1521*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.R1521*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1521	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTGCCATCGGATTAGCACG	0.652																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4561-4563)Cga>Tga		sidekick cell adhesion molecule 2							73.0	62.0	66.0					17																	71381994		2203	4299	6502	SO:0001587	stop_gained	54549				cell adhesion	integral to membrane		g.chr17:71381994G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4561C>T	17.37:g.71381994G>A	ENSP00000376421:p.Arg1521*					SDK2_ENST00000388726.3_Nonsense_Mutation_p.R1521*	p.R1521*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			32	4561	-			1521			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Nonsense_Mutation	SNP	ENST00000392650.3	37	c.4561C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694368	0.98438	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	.	.	.	4.57	3.57	0.40892	.	0.276491	0.36409	N	0.002602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	13.1511	0.59490	0.0841:0.0:0.9159:0.0	.	.	.	.	X	1145;1521;1521;697;1521	.	ENSP00000324967:R1521X	R	-	1	2	SDK2	68893589	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.866000	0.63005	2.248000	0.74166	0.655000	0.94253	CGA		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		6	9	0	0	0	1	0	6	9				
CEP164	22897	broad.mit.edu	37	11	117261583	117261583	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117261583T>G	ENST00000278935.3	+	16	2172	c.2025T>G	c.(2023-2025)gcT>gcG	p.A675A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	675	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGCTCCGAGCTCAGGTCCAGT	0.597																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(2023-2025)gcT>gcG		centrosomal protein 164kDa							64.0	66.0	65.0					11																	117261583		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117261583T>G	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2025T>G	11.37:g.117261583T>G						CEP164_ENST00000533706.1_3'UTR	p.A675A	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	16	2172	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	675			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.2025T>G	CCDS31683.1																																																																																				0.597	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		19	42	0	0	0	1	0	19	42				
TRPV4	59341	broad.mit.edu	37	12	110224598	110224598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110224598G>A	ENST00000418703.2	-	13	2347	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	TRPV4_ENST00000536838.1_Silent_p.F717F|TRPV4_ENST00000346520.2_Silent_p.F691F|TRPV4_ENST00000537083.1_Silent_p.F691F|TRPV4_ENST00000544971.1_Silent_p.F644F|TRPV4_ENST00000541794.1_Silent_p.F704F|TRPV4_ENST00000392719.2_Silent_p.F704F|TRPV4_ENST00000261740.2_Silent_p.F751F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	751					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTTCCTCAGGAATACGGGGA	0.662																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2251-2253)ttC>ttT		transient receptor potential cation channel, subfamily V, member 4							90.0	64.0	73.0					12																	110224598		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110224598G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2253C>T	12.37:g.110224598G>A						TRPV4_ENST00000541794.1_Silent_p.F704F|TRPV4_ENST00000537083.1_Silent_p.F691F|TRPV4_ENST00000536838.1_Silent_p.F717F|TRPV4_ENST00000392719.2_Silent_p.F704F|TRPV4_ENST00000346520.2_Silent_p.F691F|TRPV4_ENST00000261740.2_Silent_p.F751F|TRPV4_ENST00000544971.1_Silent_p.F644F	p.F751F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			13	2347	-			751					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.2253C>T	CCDS9134.1																																																																																				0.662	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		3	29	0	0	0	1	0	3	29				
ZNF449	203523	broad.mit.edu	37	X	134494386	134494386	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134494386G>T	ENST00000339249.4	+	5	1082	c.942G>T	c.(940-942)aaG>aaT	p.K314N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	314					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCCACAAGAAAAAGAGTC	0.468																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(940-942)aaG>aaT		zinc finger protein 449							56.0	56.0	56.0					X																	134494386		2202	4297	6499	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494386G>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.942G>T	X.37:g.134494386G>T	ENSP00000339585:p.Lys314Asn						p.K314N	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	1082	+	Acute lymphoblastic leukemia(192;6.56e-05)		314					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.942G>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	G	6.579	0.475197	0.12521	.	.	ENSG00000173275	ENST00000339249	T	0.06687	3.27	5.04	2.25	0.28309	.	0.139018	0.33327	N	0.005032	T	0.05777	0.0151	L	0.38531	1.155	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37174	-0.9717	10	0.59425	D	0.04	.	1.5167	0.02507	0.1884:0.166:0.4702:0.1754	.	314	Q6P9G9	ZN449_HUMAN	N	314	ENSP00000339585:K314N	ENSP00000339585:K314N	K	+	3	2	ZNF449	134322052	0.117000	0.22190	0.993000	0.49108	0.068000	0.16541	0.713000	0.25794	0.230000	0.21059	-0.956000	0.02647	AAG		0.468	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		30	34	1	0	7.01153e-11	1	8.6781e-11	30	34				
CALD1	800	broad.mit.edu	37	7	134635185	134635185	+	Missense_Mutation	SNP	C	C	T	rs370580506		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134635185C>T	ENST00000361675.2	+	9	2084	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	CALD1_ENST00000495522.1_Missense_Mutation_p.R384C|CALD1_ENST00000361388.2_Missense_Mutation_p.R390C|CALD1_ENST00000424922.1_Missense_Mutation_p.R358C|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361901.2_Missense_Mutation_p.R364C|CALD1_ENST00000393118.2_Missense_Mutation_p.R384C|CALD1_ENST00000543443.1_Missense_Mutation_p.R369C|CALD1_ENST00000422748.1_Missense_Mutation_p.R390C|CALD1_ENST00000417172.1_Missense_Mutation_p.R364C			Q05682	CALD1_HUMAN	caldesmon 1	619	Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAGAAACGCCAGAAGAT	0.433																																						ENST00000361388.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1168-1170)Cgc>Tgc		caldesmon 1							96.0	96.0	96.0					7																	134635185		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134635185C>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1855C>T	7.37:g.134635185C>T	ENSP00000354826:p.Arg619Cys					CALD1_ENST00000361675.2_Missense_Mutation_p.R619C|CALD1_ENST00000393118.2_Missense_Mutation_p.R384C|CALD1_ENST00000422748.1_Missense_Mutation_p.R390C|CALD1_ENST00000543443.1_Missense_Mutation_p.R369C|CALD1_ENST00000495522.1_Missense_Mutation_p.R384C|CALD1_ENST00000417172.1_Missense_Mutation_p.R364C|CALD1_ENST00000361901.2_Missense_Mutation_p.R364C|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.R358C	p.R390C	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN			9	1634	+			619					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1168C>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976521	0.53720	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.43	4.49	0.54785	.	0.000000	0.45361	D	0.000371	T	0.74658	0.3745	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.87578	0.997;0.994;0.997;0.998;0.994;0.994;0.994;0.994;0.998;0.997	T	0.79443	-0.1801	10	0.87932	D	0	-6.3293	14.9558	0.71113	0.1434:0.8566:0.0:0.0	.	313;369;390;384;358;384;364;390;619;364	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	C	364;364;390;390;619;364;384;358;384;369	ENSP00000398826:R364C;ENSP00000411476:R364C;ENSP00000355000:R390C;ENSP00000395710:R390C;ENSP00000354826:R619C;ENSP00000354513:R364C;ENSP00000376826:R384C;ENSP00000393621:R358C;ENSP00000419673:R384C;ENSP00000445641:R369C	ENSP00000355000:R390C	R	+	1	0	CALD1	134285725	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.087000	0.57671	2.550000	0.86006	0.591000	0.81541	CGC		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		39	39	0	0	0	1	0	39	39				
TTLL7	79739	broad.mit.edu	37	1	84417649	84417649	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84417649T>C	ENST00000260505.8	-	3	413	c.36A>G	c.(34-36)ggA>ggG	p.G12G	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	12					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGGGAGAGGGTCCCTGAATAA	0.363																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(34-36)ggA>ggG		tubulin tyrosine ligase-like family, member 7							34.0	37.0	36.0					1																	84417649		2200	4299	6499	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84417649T>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.36A>G	1.37:g.84417649T>C						TTLL7_ENST00000477524.1_5'UTR	p.G12G	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	3	413	-			12					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.36A>G	CCDS690.2																																																																																				0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		5	70	0	0	0	1	0	5	70				
TEF	7008	broad.mit.edu	37	22	41783660	41783660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41783660G>A	ENST00000266304.4	+	2	579	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	TEF_ENST00000406644.3_Missense_Mutation_p.V125M	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	155					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTCTGAAACCGTGTCCAGCAC	0.582																																						ENST00000266304.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(463-465)Gtg>Atg		thyrotrophic embryonic factor							56.0	37.0	44.0					22																	41783660		2203	4300	6503	SO:0001583	missense	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41783660G>A		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.463G>A	22.37:g.41783660G>A	ENSP00000266304:p.Val155Met					TEF_ENST00000406644.3_Missense_Mutation_p.V125M	p.V155M	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN			2	579	+			155					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	c.463G>A	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333544	0.41297	.	.	ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304	.	.	.	5.34	4.32	0.51571	.	0.727674	0.13885	N	0.356045	T	0.17408	0.0418	N	0.19112	0.55	0.23862	N	0.996634	B;P;P	0.50272	0.175;0.838;0.933	B;B;B	0.38106	0.03;0.107;0.265	T	0.04737	-1.0930	9	0.31617	T	0.26	-13.9955	9.1852	0.37165	0.1575:0.0:0.8425:0.0	.	160;155;125	B4DIH3;Q10587;Q10587-2	.;TEF_HUMAN;.	M	125;125;155	.	ENSP00000266304:V155M	V	+	1	0	TEF	40113606	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.344000	0.52174	2.502000	0.84385	0.563000	0.77884	GTG		0.582	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		13	8	0	0	0	1	0	13	8				
AMPD1	270	broad.mit.edu	37	1	115218604	115218604	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115218604T>G	ENST00000520113.2	-	11	1523	c.1508A>C	c.(1507-1509)aAt>aCt	p.N503T	AMPD1_ENST00000353928.6_Missense_Mutation_p.N470T|AMPD1_ENST00000369538.3_Missense_Mutation_p.N499T			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	503					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGAAGGAAATTCTTGGAACG	0.433																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(1495-1497)aAt>aCt		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						99.0	105.0	103.0					1																	115218604		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115218604T>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1508A>C	1.37:g.115218604T>G	ENSP00000430075:p.Asn503Thr					AMPD1_ENST00000520113.2_Missense_Mutation_p.N503T|AMPD1_ENST00000353928.6_Missense_Mutation_p.N470T	p.N499T	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1543	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	470					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1496A>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428403	0.83667	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82526	-1.62;-1.62;-1.62	5.58	5.58	0.84498	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.88735	0.6517	M	0.78456	2.415	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.66497	0.935;0.944	D	0.90226	0.4275	10	0.66056	D	0.02	-28.756	15.7564	0.78030	0.0:0.0:0.0:1.0	.	499;470	Q5TF02;P23109	.;AMPD1_HUMAN	T	503;499;470	ENSP00000430075:N503T;ENSP00000358551:N499T;ENSP00000316520:N470T	ENSP00000316520:N470T	N	-	2	0	AMPD1	115020127	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.122000	0.65172	0.459000	0.35465	AAT		0.433	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			7	117	0	0	0	1	0	7	117				
TBCCD1	55171	broad.mit.edu	37	3	186276249	186276249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186276249G>T	ENST00000424280.1	-	3	928	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	TBCCD1_ENST00000338733.5_Missense_Mutation_p.S150Y|TBCCD1_ENST00000446782.1_Missense_Mutation_p.S54Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	150					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGGAGACTGAGATTTGTTTCT	0.408																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(448-450)tCt>tAt		TBCC domain containing 1							144.0	143.0	143.0					3																	186276249		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186276249G>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.449C>A	3.37:g.186276249G>T	ENSP00000411253:p.Ser150Tyr					TBCCD1_ENST00000446782.1_Missense_Mutation_p.S54Y|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S150Y	p.S150Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	3	928	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		150					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.449C>A	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364651	0.61513	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;0.52	5.24	4.35	0.52113	.	0.533866	0.21049	N	0.081030	T	0.74427	0.3715	L	0.59436	1.845	0.34037	D	0.654579	P;P	0.47253	0.892;0.481	P;B	0.47528	0.549;0.371	T	0.83025	-0.0165	10	0.72032	D	0.01	-1.6387	11.1955	0.48711	0.0896:0.0:0.9104:0.0	.	54;150	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	Y	150;150;54;150;134	ENSP00000411253:S150Y;ENSP00000341652:S150Y;ENSP00000397091:S54Y;ENSP00000391109:S150Y;ENSP00000407506:S134Y	ENSP00000341652:S150Y	S	-	2	0	TBCCD1	187758943	1.000000	0.71417	0.890000	0.34922	0.868000	0.49771	3.191000	0.50981	2.607000	0.88179	0.655000	0.94253	TCT		0.408	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		8	151	1	0	0.00621372	1	0.00652201	8	151				
WDR19	57728	broad.mit.edu	37	4	39245970	39245970	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39245970C>A	ENST00000399820.3	+	22	2678	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	WDR19_ENST00000288634.7_Missense_Mutation_p.L682I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	842					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CAGCAGGGTCCTTAAAAGAGA	0.428																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(2524-2526)Ctt>Att		WD repeat domain 19							100.0	97.0	98.0					4																	39245970		1885	4114	5999	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39245970C>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2524C>A	4.37:g.39245970C>A	ENSP00000382717:p.Leu842Ile					WDR19_ENST00000288634.7_Missense_Mutation_p.L682I	p.L842I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			22	2678	+			842					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.2524C>A	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674284	0.88445	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.71222	-0.55;-0.48	5.51	5.51	0.81932	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	M	0.80028	2.48	0.58432	D	0.999999	D	0.59357	0.985	D	0.63793	0.918	T	0.82422	-0.0465	10	0.40728	T	0.16	-15.8588	13.6873	0.62524	0.0:0.926:0.0:0.074	.	842	Q8NEZ3	WDR19_HUMAN	I	842;682	ENSP00000382717:L842I;ENSP00000288634:L682I	ENSP00000288634:L682I	L	+	1	0	WDR19	38922365	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.854000	0.69503	2.578000	0.87016	0.591000	0.81541	CTT		0.428	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			4	64	1	0	0.000602214	1	0.000649039	4	64				
FRMD3	257019	broad.mit.edu	37	9	85905597	85905597	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85905597C>A	ENST00000304195.3	-	13	1322	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	FRMD3_ENST00000376438.1_Missense_Mutation_p.Q372H|FRMD3_ENST00000376434.1_Missense_Mutation_p.Q178H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	372						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TAATGATGAGCTGTTTGTTCA	0.517																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1114-1116)caG>caT		FERM domain containing 3							124.0	127.0	126.0					9																	85905597		1962	4162	6124	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85905597C>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1116G>T	9.37:g.85905597C>A	ENSP00000303508:p.Gln372His					FRMD3_ENST00000376438.1_Missense_Mutation_p.Q372H|FRMD3_ENST00000376434.1_Missense_Mutation_p.Q178H	p.Q372H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			13	1322	-			372					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1116G>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421469	0.42918	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195	D;D;D	0.86769	-1.74;-2.17;-1.75	5.9	3.11	0.35812	.	0.109106	0.64402	D	0.000005	T	0.74298	0.3698	N	0.08118	0	0.50632	D	0.999884	B;B	0.20368	0.044;0.027	B;B	0.25884	0.029;0.064	T	0.65450	-0.6165	10	0.45353	T	0.12	.	10.5872	0.45290	0.0:0.7883:0.0:0.2117	.	372;372	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	H	372;178;372	ENSP00000365621:Q372H;ENSP00000365617:Q178H;ENSP00000303508:Q372H	ENSP00000303508:Q372H	Q	-	3	2	FRMD3	85095417	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	0.238000	0.18004	0.423000	0.26033	-0.136000	0.14681	CAG		0.517	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		4	99	1	0	0.217242	1	0.218821	4	99				
LRRC74A	145497	broad.mit.edu	37	14	77318754	77318754	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77318754C>T	ENST00000393774.3	+	8	898	c.774C>T	c.(772-774)ttC>ttT	p.F258F	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAATAACTTCCACACAAGGG	0.572																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(772-774)ttC>ttT		chromosome 14 open reading frame 166B							117.0	86.0	97.0					14																	77318754		2203	4300	6503	SO:0001819	synonymous_variant	145497							g.chr14:77318754C>T																												ENST00000393774.3:c.774C>T	14.37:g.77318754C>T						C14orf166B_ENST00000450042.2_3'UTR	p.F258F	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	8	898	+			258						Silent	SNP	ENST00000393774.3	37	c.774C>T	CCDS9853.2																																																																																				0.572	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			9	11	0	0	0	1	0	9	11				
TRIT1	54802	broad.mit.edu	37	1	40309783	40309783	+	Silent	SNP	G	G	A	rs142932194		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40309783G>A	ENST00000316891.5	-	10	1238	c.1224C>T	c.(1222-1224)cgC>cgT	p.R408R	TRIT1_ENST00000537440.1_Silent_p.R104R|TRIT1_ENST00000537223.1_Silent_p.R104R|TRIT1_ENST00000545233.1_Silent_p.R162R|TRIT1_ENST00000441669.2_Silent_p.R326R|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Silent_p.R26R|TRIT1_ENST00000372818.1_Silent_p.R382R	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	408					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCCCATTCGCGATCCCCAA	0.453																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(1222-1224)cgC>cgT		tRNA isopentenyltransferase 1		G		2,4404	4.2+/-10.8	0,2,2201	114.0	102.0	106.0		1224	-12.1	0.0	1	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	TRIT1	NM_017646.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		408/468	40309783	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40309783G>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1224C>T	1.37:g.40309783G>A						TRIT1_ENST00000441669.2_Silent_p.R326R|TRIT1_ENST00000537223.1_Silent_p.R104R|TRIT1_ENST00000537440.1_Silent_p.R104R|TRIT1_ENST00000545233.1_Silent_p.R162R|TRIT1_ENST00000372818.1_Silent_p.R382R|TRIT1_ENST00000541099.1_Silent_p.R26R|TRIT1_ENST00000491865.1_5'UTR	p.R408R	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		10	1238	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	408					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	37	c.1224C>T	CCDS30681.1																																																																																				0.453	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		11	30	0	0	0	1	0	11	30				
PPFIBP1	8496	broad.mit.edu	37	12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A	rs376329180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27841240G>A	ENST00000318304.8	+	25	2681	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A647T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A794T|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A769T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	800					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16274	0.0		0.0	False		,,,				2504	0.0					ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2398-2400)Gcc>Acc		PTPRF interacting protein, binding protein 1 (liprin beta 1)		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	221.0	221.0	221.0		1939,2305,2380,2398	0.4	0.9	12		221	0,8600		0,0,4300	no	missense,missense,missense,missense	PPFIBP1	NM_001198915.1,NM_001198916.1,NM_003622.3,NM_177444.2	58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	647/859,769/981,794/1006,800/1012	27841240	1,13005	2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841240G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2398G>A	12.37:g.27841240G>A	ENSP00000314724:p.Ala800Thr					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A769T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A794T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A647T	p.A800T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			25	2681	+	Lung SC(9;0.0873)		800					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2398G>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	4.592	0.109921	0.08780	2.27E-4	0.0	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.59	0.36	0.16097	Sterile alpha motif/pointed domain (2);	0.227351	0.22158	N	0.063827	T	0.08980	0.0222	N	0.00219	-1.825	0.23449	N	0.997654	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.002	T	0.39542	-0.9609	10	0.07644	T	0.81	-0.6916	10.0412	0.42160	0.7779:0.0:0.2221:0.0	.	647;631;800;794;769	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	T	631;647;800;769;794	ENSP00000444304:A631T;ENSP00000445425:A647T;ENSP00000314724:A800T;ENSP00000443442:A769T;ENSP00000228425:A794T	ENSP00000228425:A794T	A	+	1	0	PPFIBP1	27732507	0.994000	0.37717	0.924000	0.36721	0.126000	0.20510	1.896000	0.39789	-0.166000	0.10890	-0.812000	0.03155	GCC		0.468	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		25	207	0	0	0	1	0	25	207				
VWA9	81556	broad.mit.edu	37	15	65871831	65871831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65871831G>A	ENST00000395644.4	-	12	1807	c.1472C>T	c.(1471-1473)aCc>aTc	p.T491I	VWA9_ENST00000567744.1_Missense_Mutation_p.T527I|VWA9_ENST00000313182.2_Missense_Mutation_p.T491I|VWA9_ENST00000420799.2_Missense_Mutation_p.T434I|VWA9_ENST00000569491.1_Missense_Mutation_p.T441I|VWA9_ENST00000431261.2_Missense_Mutation_p.T412I|VWA9_ENST00000442903.3_Missense_Mutation_p.T455I			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	491																	AGAGGTGCCGGTACTGGCCAG	0.542																																						ENST00000395644.4																			0											c.(1471-1473)aCc>aTc		von Willebrand factor A domain containing 9							97.0	89.0	92.0					15																	65871831		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65871831G>A	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1472C>T	15.37:g.65871831G>A	ENSP00000379006:p.Thr491Ile					VWA9_ENST00000420799.2_Missense_Mutation_p.T434I|VWA9_ENST00000431261.2_Missense_Mutation_p.T412I|VWA9_ENST00000313182.2_Missense_Mutation_p.T491I|VWA9_ENST00000567744.1_Missense_Mutation_p.T527I|VWA9_ENST00000442903.3_Missense_Mutation_p.T455I|VWA9_ENST00000569491.1_Missense_Mutation_p.T441I	p.T491I							12	1807	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.1472C>T		.	.	.	.	.	.	.	.	.	.	G	16.08	3.022881	0.54683	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.81	4.87	0.63330	.	0.142469	0.64402	D	0.000006	T	0.46698	0.1406	N	0.22421	0.69	0.49213	D	0.999768	B;B;B;B	0.33238	0.403;0.275;0.396;0.261	B;B;B;B	0.32533	0.112;0.147;0.099;0.051	T	0.49790	-0.8902	9	0.62326	D	0.03	-13.8871	16.6833	0.85298	0.0:0.1297:0.8703:0.0	.	441;455;527;491	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	I	491;491;412;434;455	.	ENSP00000326379:T491I	T	-	2	0	C15orf44	63658884	1.000000	0.71417	0.731000	0.30826	0.644000	0.38419	5.521000	0.67086	1.409000	0.46915	0.591000	0.81541	ACC		0.542	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		33	49	0	0	0	1	0	33	49				
B3GNT4	79369	broad.mit.edu	37	12	122691477	122691477	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122691477A>G	ENST00000324189.4	+	3	1035	c.679A>G	c.(679-681)Aac>Gac	p.N227D	B3GNT4_ENST00000546192.1_Missense_Mutation_p.N202D|B3GNT4_ENST00000535274.1_Missense_Mutation_p.N202D|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	227					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCACGTCCCCAACGTGTTAGA	0.592																																						ENST00000535274.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(604-606)Aac>Gac		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							61.0	59.0	59.0					12																	122691477		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691477A>G	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.679A>G	12.37:g.122691477A>G	ENSP00000319636:p.Asn227Asp					B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.N202D|B3GNT4_ENST00000324189.4_Missense_Mutation_p.N227D	p.N202D			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2331	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		227					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.604A>G	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149575	0.57151	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.43294	0.95;0.95;0.95	5.5	4.34	0.51931	.	0.000000	0.64402	D	0.000012	T	0.64271	0.2583	M	0.80183	2.485	0.35231	D	0.776897	D	0.89917	1.0	D	0.75484	0.986	T	0.74976	-0.3480	10	0.59425	D	0.04	.	11.8995	0.52675	0.8201:0.1799:0.0:0.0	.	227	Q9C0J1	B3GN4_HUMAN	D	227;202;202	ENSP00000319636:N227D;ENSP00000438840:N202D;ENSP00000444534:N202D	ENSP00000319636:N227D	N	+	1	0	B3GNT4	121257430	1.000000	0.71417	0.271000	0.24616	0.256000	0.26092	4.735000	0.62051	0.859000	0.35456	0.533000	0.62120	AAC		0.592	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		28	24	0	0	0	1	0	28	24				
BDNF	627	broad.mit.edu	37	11	27679427	27679427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27679427G>A	ENST00000525528.1	-	1	1778	c.685C>T	c.(685-687)Cga>Tga	p.R229*	BDNF_ENST00000395983.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000395978.3_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000532997.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395981.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000533131.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395980.2_Nonsense_Mutation_p.R229*|BDNF_ENST00000438929.1_Nonsense_Mutation_p.R311*|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000314915.6_Nonsense_Mutation_p.R237*|BDNF_ENST00000439476.2_Nonsense_Mutation_p.R229*|BDNF_ENST00000420794.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Nonsense_Mutation_p.R244*|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000418212.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000356660.4_Nonsense_Mutation_p.R229*|BDNF_ENST00000533246.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000530861.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000525950.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000499568.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	229					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CTTATGAATCGCCAGCCAATT	0.423																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(685-687)Cga>Tga		brain-derived neurotrophic factor							103.0	106.0	105.0					11																	27679427		2202	4299	6501	SO:0001587	stop_gained	627					extracellular region	growth factor activity	g.chr11:27679427G>A	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.685C>T	11.37:g.27679427G>A	ENSP00000437138:p.Arg229*					BDNF_ENST00000420794.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000314915.6_Nonsense_Mutation_p.R237*|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000525950.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395981.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000438929.1_Nonsense_Mutation_p.R311*|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000532997.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395986.2_Nonsense_Mutation_p.R244*|BDNF_ENST00000395980.2_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000439476.2_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000356660.4_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395978.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000530861.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000533131.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000533246.1_Nonsense_Mutation_p.R229*	p.R229*	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1778	-			229					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Nonsense_Mutation	SNP	ENST00000525528.1	37	c.685C>T	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	G	43	9.872961	0.99284	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	.	.	.	6.08	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.7692	18.1513	0.89675	0.0:0.0:0.872:0.128	.	.	.	.	X	229;229;244;229;229;229;229;229;229;311;229;229;229;229;229;237;229;181	.	ENSP00000320002:R237X	R	-	1	2	BDNF	27636003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.859000	0.55987	2.894000	0.99253	0.591000	0.81541	CGA		0.423	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		7	128	0	0	0	1	0	7	128				
HSPG2	3339	broad.mit.edu	37	1	22200957	22200957	+	Missense_Mutation	SNP	G	G	A	rs576934263	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22200957G>A	ENST00000374695.3	-	28	3677	c.3598C>T	c.(3598-3600)Cgg>Tgg	p.R1200W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1200	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTGTCCCCCGCTGGGCGTCC	0.667													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16607	0.0		0.0	False		,,,				2504	0.0					ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(3598-3600)Cgg>Tgg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						32.0	32.0	32.0					1																	22200957		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22200957G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3598C>T	1.37:g.22200957G>A	ENSP00000363827:p.Arg1200Trp						p.R1200W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	28	3677	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1200			Laminin EGF-like 6.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.3598C>T	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.475399|4.475399	0.84640|0.84640	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000427897|ENST00000374695	.|T	.|0.78816	.|-1.21	4.93|4.93	3.93|3.93	0.45458|0.45458	.|EGF-like, laminin (4);	.|0.227351	.|0.21782	.|N	.|0.069199	D|D	0.84786|0.84786	0.5549|0.5549	M|M	0.85197|0.85197	2.74|2.74	0.31501|0.31501	N|N	0.66473|0.66473	.|D	.|0.65815	.|0.995	.|P	.|0.57283	.|0.817	D|D	0.85506|0.85506	0.1194|0.1194	5|10	.|0.54805	.|T	.|0.06	.|.	9.2866|9.2866	0.37760|0.37760	0.0:0.0:0.6323:0.3677|0.0:0.0:0.6323:0.3677	.|.	.|1200	.|P98160	.|PGBM_HUMAN	V|W	54|1200	.|ENSP00000363827:R1200W	.|ENSP00000363827:R1200W	A|R	-|-	2|1	0|2	HSPG2|HSPG2	22073544|22073544	0.863000|0.863000	0.29885|0.29885	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.636000|2.636000	0.46545|0.46545	2.277000|2.277000	0.76020|0.76020	0.407000|0.407000	0.27541|0.27541	GCG|CGG		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	18	0	0	0	1	0	16	18				
LRP1	4035	broad.mit.edu	37	12	57599408	57599408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599408C>A	ENST00000243077.3	+	75	12004	c.11538C>A	c.(11536-11538)ctC>ctA	p.L3846L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3846	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGGCCACCTCTGCAGCTGCG	0.627																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11536-11538)ctC>ctA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						77.0	74.0	75.0					12																	57599408		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57599408C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11538C>A	12.37:g.57599408C>A							p.L3846L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	75	12004	+			3846			EGF-like 15.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.11538C>A	CCDS8932.1																																																																																				0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	40	1	0	0.000175454	1	0.000192663	19	40				
SYN3	8224	broad.mit.edu	37	22	33402448	33402448	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33402448A>G	ENST00000358763.2	-	2	442	c.200T>C	c.(199-201)aTg>aCg	p.M67T	SYN3_ENST00000332840.5_Missense_Mutation_p.M67T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	67	B; linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCTGCTTCATGGCACTGGA	0.617																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(199-201)aTg>aCg		synapsin III							73.0	75.0	74.0					22																	33402448		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402448A>G	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.200T>C	22.37:g.33402448A>G	ENSP00000351614:p.Met67Thr					SYN3_ENST00000332840.5_Missense_Mutation_p.M67T	p.M67T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			2	442	-			67			B; linker.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.200T>C	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720459	0.48728	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.29142	1.58;1.58	5.21	5.21	0.72293	.	0.186956	0.46442	D	0.000284	T	0.31765	0.0807	L	0.54323	1.7	0.42689	D	0.993573	B;B;B	0.15141	0.012;0.002;0.012	B;B;B	0.15870	0.014;0.007;0.014	T	0.06991	-1.0796	10	0.38643	T	0.18	-6.3775	15.3817	0.74661	1.0:0.0:0.0:0.0	.	67;67;67	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	T	67	ENSP00000351614:M67T;ENSP00000330219:M67T	ENSP00000330219:M67T	M	-	2	0	SYN3	31732448	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.111000	0.94308	2.077000	0.62373	0.455000	0.32223	ATG		0.617	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			12	83	0	0	0	1	0	12	83				
NAALAD2	10003	broad.mit.edu	37	11	89911126	89911126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89911126G>A	ENST00000534061.1	+	16	1929	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	NAALAD2_ENST00000321955.4_Missense_Mutation_p.A534T|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	567	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTTTCTGTGGCTCAATTACG	0.358																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1699-1701)Gct>Act		N-acetylated alpha-linked acidic dipeptidase 2							68.0	73.0	71.0					11																	89911126		2201	4297	6498	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89911126G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1699G>A	11.37:g.89911126G>A	ENSP00000432481:p.Ala567Thr					NAALAD2_ENST00000321955.4_Missense_Mutation_p.A534T|NAALAD2_ENST00000375944.3_Intron	p.A567T	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			16	1929	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	567			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1699G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807457	0.90623	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.44482	0.92;0.92	5.63	4.66	0.58398	.	0.071802	0.64402	D	0.000020	T	0.39384	0.1076	M	0.71206	2.165	0.80722	D	1	P	0.45212	0.853	B	0.33890	0.172	T	0.46414	-0.9193	9	.	.	.	-15.0885	15.4187	0.74995	0.0:0.0:0.8604:0.1396	.	567	Q9Y3Q0	NALD2_HUMAN	T	567;534	ENSP00000432481:A567T;ENSP00000320083:A534T	.	A	+	1	0	NAALAD2	89550774	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.295000	0.78780	2.665000	0.90641	0.644000	0.83932	GCT		0.358	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		11	102	0	0	0	1	0	11	102				
POC1B	282809	broad.mit.edu	37	12	89818984	89818984	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89818984G>T	ENST00000313546.3	-	11	1414	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N	POC1B_ENST00000393179.4_Missense_Mutation_p.T299N|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.T387N|POC1B_ENST00000541909.1_3'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	429					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAAAGCATCAGTCACAGCGAG	0.428																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(895-897)aCt>aAt		POC1 centriolar protein B							251.0	195.0	214.0					12																	89818984		2203	4300	6503	SO:0001583	missense	282809							g.chr12:89818984G>T	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1286C>A	12.37:g.89818984G>T	ENSP00000323302:p.Thr429Asn					POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.T429N|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.T387N|POC1B_ENST00000541909.1_3'UTR	p.T299N							9	1509	-								G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.896C>A	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	6.447	0.450587	0.12223	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.50277	0.75;0.75;0.75	5.8	3.87	0.44632	.	0.649101	0.15757	N	0.246139	T	0.30696	0.0773	L	0.27053	0.805	0.18873	N	0.999981	B	0.06786	0.001	B	0.06405	0.002	T	0.11991	-1.0565	10	0.26408	T	0.33	.	6.6458	0.22934	0.089:0.0:0.7345:0.1765	.	429	Q8TC44	POC1B_HUMAN	N	299;429;387	ENSP00000376877:T299N;ENSP00000323302:T429N;ENSP00000447916:T387N	ENSP00000323302:T429N	T	-	2	0	POC1B	88343115	0.525000	0.26290	0.178000	0.23040	0.123000	0.20343	1.286000	0.33273	1.438000	0.47492	0.563000	0.77884	ACT		0.428	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		39	60	1	0	3.21399e-22	1	4.24043e-22	39	60				
OR6T1	219874	broad.mit.edu	37	11	123814133	123814133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123814133C>T	ENST00000321252.2	-	1	447	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACAGACATGGCCATTCATCAG	0.567																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(412-414)gGc>gAc		olfactory receptor, family 6, subfamily T, member 1							68.0	62.0	64.0					11																	123814133		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814133C>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.413G>A	11.37:g.123814133C>T	ENSP00000325203:p.Gly138Asp						p.G138D	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	447	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	138					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.413G>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	0.259	-1.000947	0.02128	.	.	ENSG00000181499	ENST00000321252	T	0.37915	1.17	3.85	0.873	0.19118	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.21387	0.0515	L	0.31804	0.96	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.26052	-1.0114	9	0.48119	T	0.1	-1.1106	1.1384	0.01760	0.1792:0.4386:0.1748:0.2075	.	138	Q8NGN1	OR6T1_HUMAN	D	138	ENSP00000325203:G138D	ENSP00000325203:G138D	G	-	2	0	OR6T1	123319343	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.726000	0.01861	-0.002000	0.14469	-0.261000	0.10672	GGC		0.567	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		16	27	0	0	0	1	0	16	27				
PCDHGB6	56100	broad.mit.edu	37	5	140787945	140787945	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140787945T>G	ENST00000520790.1	+	1	176	c.176T>G	c.(175-177)cTg>cGg	p.L59R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	59	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTGTCCTGGATGTGTCG	0.607																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(175-177)cTg>cGg									70.0	75.0	73.0					5																	140787945		1978	4165	6143	SO:0001583	missense	0							g.chr5:140787945T>G	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.176T>G	5.37:g.140787945T>G	ENSP00000428603:p.Leu59Arg					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.L59R	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	176	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.176T>G	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	2.737	-0.263061	0.05754	.	.	ENSG00000253305	ENST00000520790	T	0.37058	1.22	5.38	-10.8	0.00216	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.03783	0.0107	N	0.00064	-2.31	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.17561	-1.0365	9	0.02654	T	1	.	2.8452	0.05541	0.5114:0.131:0.2262:0.1314	.	59;59	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	R	59	ENSP00000428603:L59R	ENSP00000428603:L59R	L	+	2	0	PCDHGB6	140768129	0.000000	0.05858	0.737000	0.30932	0.961000	0.63080	-6.421000	0.00066	-1.782000	0.01275	0.383000	0.25322	CTG		0.607	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		7	51	0	0	0	1	0	7	51				
SRBD1	55133	broad.mit.edu	37	2	45780832	45780832	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45780832T>G	ENST00000263736.4	-	11	1509	c.1447A>C	c.(1447-1449)Aag>Cag	p.K483Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.K2Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	483					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TATAAGATCTTCATTAACTCT	0.358																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1447-1449)Aag>Cag		S1 RNA binding domain 1							71.0	78.0	75.0					2																	45780832		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45780832T>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1447A>C	2.37:g.45780832T>G	ENSP00000263736:p.Lys483Gln					SRBD1_ENST00000535761.1_Missense_Mutation_p.K2Q	p.K483Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		11	1509	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	483					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1447A>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424337	0.25639	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.44881	0.91;1.42	5.56	4.39	0.52855	Tex-like domain (1);	0.381500	0.30068	N	0.010498	T	0.34600	0.0903	L	0.42487	1.325	0.29227	N	0.873559	B	0.11235	0.004	B	0.08055	0.003	T	0.20638	-1.0269	10	0.30854	T	0.27	.	12.0207	0.53342	0.0:0.0:0.2734:0.7266	.	483	Q8N5C6	SRBD1_HUMAN	Q	483;2	ENSP00000263736:K483Q;ENSP00000441272:K2Q	ENSP00000263736:K483Q	K	-	1	0	SRBD1	45634336	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	1.635000	0.37134	0.921000	0.36994	-0.446000	0.05623	AAG		0.358	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		4	54	0	0	0	1	0	4	54				
CSGALNACT2	55454	broad.mit.edu	37	10	43655966	43655966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43655966G>A	ENST00000374466.3	+	4	1238	c.903G>A	c.(901-903)aaG>aaA	p.K301K	CSGALNACT2_ENST00000374464.1_Silent_p.K301K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	301					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCAAGACAAGAAGATTCATC	0.373																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(901-903)aaG>aaA		chondroitin sulfate N-acetylgalactosaminyltransferase 2							130.0	120.0	123.0					10																	43655966		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43655966G>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.903G>A	10.37:g.43655966G>A						CSGALNACT2_ENST00000374464.1_Silent_p.K301K	p.K301K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			4	1238	+			301					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.903G>A	CCDS7201.1																																																																																				0.373	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		23	31	0	0	0	1	0	23	31				
MTHFR	4524	broad.mit.edu	37	1	11850928	11850928	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11850928G>A	ENST00000376592.1	-	11	1908	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	MTHFR_ENST00000376590.3_Missense_Mutation_p.R594W|MTHFR_ENST00000376583.3_Missense_Mutation_p.R635W|MTHFR_ENST00000376585.1_Missense_Mutation_p.R635W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	594			R -> Q (in dbSNP:rs2274976). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TTTCCCCACCGCTCAATCCAC	0.557																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1780-1782)Cgg>Tgg		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						176.0	159.0	165.0					1																	11850928		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11850928G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1780C>T	1.37:g.11850928G>A	ENSP00000365777:p.Arg594Trp					MTHFR_ENST00000376583.3_Missense_Mutation_p.R635W|MTHFR_ENST00000376585.1_Missense_Mutation_p.R635W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R594W	p.R594W			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	11	1908	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	594		R -> Q (in dbSNP:rs2274976).			B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.1780C>T	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975157	0.74360	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.31	4.39	0.52855	.	0.104915	0.64402	D	0.000002	T	0.76300	0.3968	L	0.36672	1.1	0.29593	N	0.848254	P;P	0.47841	0.629;0.901	B;B	0.40329	0.053;0.326	T	0.74808	-0.3539	10	0.56958	D	0.05	.	14.3499	0.66694	0.0:0.0:0.8508:0.1492	.	594;635	P42898;Q5SNW6	MTHR_HUMAN;.	W	594;635;594;635	ENSP00000365777:R594W;ENSP00000365767:R635W;ENSP00000365775:R594W;ENSP00000365770:R635W	ENSP00000365767:R635W	R	-	1	2	MTHFR	11773515	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.271000	0.72569	1.218000	0.43458	0.561000	0.74099	CGG		0.557	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		22	30	0	0	0	1	0	22	30				
PLEKHG4	25894	broad.mit.edu	37	16	67322137	67322137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67322137G>A	ENST00000360461.5	+	19	5823	c.3288G>A	c.(3286-3288)tcG>tcA	p.S1096S	PLEKHG4_ENST00000427155.2_Silent_p.S1096S|PLEKHG4_ENST00000450733.1_Silent_p.S1015S|PLEKHG4_ENST00000379344.3_Silent_p.S1096S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1096							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGGGCCTCGAACTCCCTTC	0.607																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3286-3288)tcG>tcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							113.0	114.0	114.0					16																	67322137		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67322137G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.3288G>A	16.37:g.67322137G>A						PLEKHG4_ENST00000427155.2_Silent_p.S1096S|PLEKHG4_ENST00000379344.3_Silent_p.S1096S|PLEKHG4_ENST00000450733.1_Silent_p.S1015S	p.S1096S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	19	5823	+			1096					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.3288G>A	CCDS32466.1																																																																																				0.607	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		15	112	0	0	0	1	0	15	112				
CSNK1G3	1456	broad.mit.edu	37	5	122950078	122950078	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122950078G>A	ENST00000361991.2	+	12	1362	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	CSNK1G3_ENST00000395411.1_Silent_p.Q444Q|CSNK1G3_ENST00000511130.2_Silent_p.Q308Q|CSNK1G3_ENST00000360683.2_Silent_p.Q452Q|CSNK1G3_ENST00000521364.1_Silent_p.Q420Q|CSNK1G3_ENST00000510842.2_Silent_p.Q421Q|CSNK1G3_ENST00000512718.3_Silent_p.Q345Q|CSNK1G3_ENST00000345990.4_Silent_p.Q420Q|CSNK1G3_ENST00000395412.1_Silent_p.Q452Q			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	444					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAACCATACAGCGCCACAAAT	0.388																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(1354-1356)caG>caA		casein kinase 1, gamma 3							87.0	87.0	87.0					5																	122950078		2203	4300	6503	SO:0001819	synonymous_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122950078G>A	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.1332G>A	5.37:g.122950078G>A						CSNK1G3_ENST00000510842.2_Silent_p.Q421Q|CSNK1G3_ENST00000521364.1_Silent_p.Q420Q|CSNK1G3_ENST00000360683.2_Silent_p.Q452Q|CSNK1G3_ENST00000395411.1_Silent_p.Q444Q|CSNK1G3_ENST00000361991.2_Silent_p.Q444Q|CSNK1G3_ENST00000512718.3_Silent_p.Q345Q|CSNK1G3_ENST00000345990.4_Silent_p.Q420Q|CSNK1G3_ENST00000511130.2_Silent_p.Q308Q	p.Q452Q	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	14	2075	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	444					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Silent	SNP	ENST00000361991.2	37	c.1356G>A	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	8.389	0.839281	0.16891	.	.	ENSG00000151292	ENST00000515322	.	.	.	4.95	1.93	0.25924	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47623	-0.9103	4	.	.	.	.	7.1506	0.25608	0.4392:0.0:0.5608:0.0	.	.	.	.	N	161	.	.	S	+	2	0	CSNK1G3	122977977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.850000	0.27737	0.627000	0.30340	0.655000	0.94253	AGC		0.388	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		9	47	0	0	0	1	0	9	47				
SLC25A40	55972	broad.mit.edu	37	7	87476283	87476283	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476283A>G	ENST00000341119.5	-	8	958	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	204					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GTACATCTCTAAGAACAGTAG	0.378																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.(610-612)ctT>ctC		solute carrier family 25, member 40							90.0	96.0	94.0					7																	87476283		2203	4300	6503	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87476283A>G	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.612T>C	7.37:g.87476283A>G							p.L204L	NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN			8	958	-	Esophageal squamous(14;0.00202)		204					A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.612T>C	CCDS5610.1																																																																																				0.378	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		7	154	0	0	0	1	0	7	154				
MSI2	124540	broad.mit.edu	37	17	55752348	55752348	+	Missense_Mutation	SNP	G	G	A	rs200547992		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55752348G>A	ENST00000284073.2	+	12	1015	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Missense_Mutation_p.R265Q|MSI2_ENST00000442934.2_Missense_Mutation_p.R208Q	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	269						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AACCCGGCGCGGCCCGGAGGC	0.642			T	HOXA9	CML								G|||	1	0.000199681	0.0	0.0	5008	,	,		14245	0.0		0.001	False		,,,				2504	0.0					ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(805-807)cGg>cAg		musashi RNA-binding protein 2							47.0	62.0	57.0					17																	55752348		2198	4284	6482	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55752348G>A	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.806G>A	17.37:g.55752348G>A	ENSP00000284073:p.Arg269Gln					MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Missense_Mutation_p.R265Q|MSI2_ENST00000442934.2_Missense_Mutation_p.R208Q	p.R269Q	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	12	1015	+	Breast(9;1.78e-08)		269					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.806G>A	CCDS11596.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.49	3.635280	0.67130	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;T;T	0.83419	-1.72;1.99;2.84	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.88481	0.6448	M	0.65975	2.015	0.80722	D	1	D;P	0.64830	0.994;0.948	D;B	0.64042	0.921;0.187	D	0.86195	0.1615	10	0.20046	T	0.44	.	17.1487	0.86773	0.0:0.0:1.0:0.0	.	265;269	B4DHE8;Q96DH6	.;MSI2H_HUMAN	Q	265;269;208	ENSP00000414671:R265Q;ENSP00000284073:R269Q;ENSP00000392607:R208Q	ENSP00000284073:R269Q	R	+	2	0	MSI2	53107347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.038000	0.60285	0.491000	0.48974	CGG		0.642	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			53	76	0	0	0	1	0	53	76				
SORCS3	22986	broad.mit.edu	37	10	107023071	107023071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107023071G>A	ENST00000369701.3	+	27	3835	c.3608G>A	c.(3607-3609)gGc>gAc	p.G1203D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1203					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGCAGGAGGCATTGCCACT	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3607-3609)gGc>gAc		sortilin-related VPS10 domain containing receptor 3							116.0	98.0	104.0					10																	107023071		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107023071G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3608G>A	10.37:g.107023071G>A	ENSP00000358715:p.Gly1203Asp						p.G1203D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	27	3835	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1203					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3608G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659128	0.29515	.	.	ENSG00000156395	ENST00000369701	T	0.14144	2.53	5.69	3.82	0.43975	.	0.307851	0.35903	N	0.002908	T	0.08626	0.0214	N	0.14661	0.345	0.30189	N	0.79968	B	0.29188	0.236	B	0.23419	0.046	T	0.07443	-1.0772	9	.	.	.	.	16.115	0.81301	0.0:0.3802:0.6198:0.0	.	1203	Q9UPU3	SORC3_HUMAN	D	1203	ENSP00000358715:G1203D	.	G	+	2	0	SORCS3	107013061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.073000	0.71245	0.852000	0.35287	0.655000	0.94253	GGC		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	14	0	0	0	1	0	9	14				
CORO2A	7464	broad.mit.edu	37	9	100897184	100897184	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100897184G>A	ENST00000343933.5	-	4	629	c.372C>T	c.(370-372)taC>taT	p.Y124Y	CORO2A_ENST00000375077.4_Silent_p.Y124Y	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	124					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTCCTTCCTGTAGGCCGTGA	0.612																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(370-372)taC>taT		coronin, actin binding protein, 2A							84.0	72.0	76.0					9																	100897184		2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897184G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.372C>T	9.37:g.100897184G>A						CORO2A_ENST00000375077.4_Silent_p.Y124Y	p.Y124Y	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			4	629	-		Acute lymphoblastic leukemia(62;0.0559)	124					Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.372C>T	CCDS6735.1																																																																																				0.612	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		5	48	0	0	0	1	0	5	48				
MYZAP	100820829	broad.mit.edu	37	15	57925929	57925929	+	Missense_Mutation	SNP	G	G	A	rs144667495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57925929G>A	ENST00000267853.5	+	8	1017	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MYZAP_ENST00000380565.4_Missense_Mutation_p.R308H|GCOM1_ENST00000587652.1_Missense_Mutation_p.R308H|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.R308H|GCOM1_ENST00000380569.2_Missense_Mutation_p.R308H|GCOM1_ENST00000574161.1_Missense_Mutation_p.R308H|GCOM1_ENST00000380560.2_Missense_Mutation_p.R239H|GCOM1_ENST00000380568.3_Missense_Mutation_p.R308H|GCOM1_ENST00000396180.1_Missense_Mutation_p.R277H|GCOM1_ENST00000380561.2_Missense_Mutation_p.R277H			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	308					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											CTGATTGAGCGCATGGAAAAG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		15528	0.001		0.0	False		,,,				2504	0.0					ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(922-924)cGc>cAc				G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4383	2.1+/-5.4	0,1,2191	115.0	105.0	108.0		923,923,923,923	5.7	1.0	15	dbSNP_134	108	0,8584		0,0,4292	no	missense,missense,missense,missense	GCOM1	NM_001018090.3,NM_001018091.3,NM_001018100.3,NM_152451.6	29,29,29,29	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	308/551,308/446,308/467,308/439	57925929	1,12967	2192	4292	6484	SO:0001583	missense	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57925929G>A	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.923G>A	15.37:g.57925929G>A	ENSP00000267853:p.Arg308His					GCOM1_ENST00000380568.3_Missense_Mutation_p.R308H|MYZAP_ENST00000380565.4_Missense_Mutation_p.R308H|GCOM1_ENST00000587652.1_Missense_Mutation_p.R308H|GCOM1_ENST00000380560.2_Missense_Mutation_p.R239H|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.R308H|GCOM1_ENST00000380561.2_Missense_Mutation_p.R277H|MYZAP_ENST00000267853.5_Missense_Mutation_p.R308H|GCOM1_ENST00000572390.1_Missense_Mutation_p.R308H|GCOM1_ENST00000396180.1_Missense_Mutation_p.R277H	p.R308H	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			8	1042	+			308					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.923G>A	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402796	0.83230	2.28E-4	0.0	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.68	5.68	0.88126	.	0.213542	0.49916	D	0.000137	T	0.59101	0.2169	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.996	D;P;D;P	0.65443	0.935;0.852;0.935;0.768	T	0.59547	-0.7434	10	0.62326	D	0.03	-0.8683	18.5497	0.91058	0.0:0.0:1.0:0.0	.	308;308;308;308	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	H	308;277;277;239;308;308;308;23	ENSP00000369943:R308H;ENSP00000369935:R277H;ENSP00000379483:R277H;ENSP00000369933:R239H;ENSP00000267853:R308H;ENSP00000369939:R308H;ENSP00000369942:R308H;ENSP00000431396:R23H	ENSP00000267853:R308H	R	+	2	0	GCOM1	55713221	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.028000	0.70889	2.676000	0.91093	0.563000	0.77884	CGC		0.512	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		17	50	0	0	0	1	0	17	50				
OR5H2	79310	broad.mit.edu	37	3	98002546	98002546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98002546C>T	ENST00000355273.2	+	1	815	c.815C>T	c.(814-816)gCa>gTa	p.A272V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A272V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTCCACAAGCAGATGACCAA	0.378																																						ENST00000355273.2																			1	Substitution - Missense(1)	p.A272V(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(814-816)gCa>gTa		olfactory receptor, family 5, subfamily H, member 2							79.0	75.0	77.0					3																	98002546		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002546C>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.815C>T	3.37:g.98002546C>T	ENSP00000347418:p.Ala272Val					RP11-325B23.2_ENST00000508616.1_lincRNA	p.A272V	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	815	+			272					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.815C>T	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	3.767	-0.048366	0.07407	.	.	ENSG00000197938	ENST00000355273	T	0.00169	8.63	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	1.386070	0.05391	U	0.539061	T	0.00210	0.0006	L	0.42529	1.33	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.44742	-0.9308	10	0.62326	D	0.03	.	6.106	0.20073	0.0:0.855:0.0:0.145	.	272	Q8NGV7	OR5H2_HUMAN	V	272	ENSP00000347418:A272V	ENSP00000347418:A272V	A	+	2	0	OR5H2	99485236	0.000000	0.05858	0.188000	0.23233	0.046000	0.14306	-0.227000	0.09126	1.698000	0.51180	0.411000	0.27672	GCA		0.378	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			5	43	0	0	0	1	0	5	43				
CD1A	909	broad.mit.edu	37	1	158227281	158227281	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158227281G>A	ENST00000289429.5	+	5	1487	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.A318A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGGTCTTGCGCTTTGGTTCA	0.458																																						ENST00000289429.5																			1	Substitution - coding silent(1)	p.A318A(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(952-954)gcG>gcA		CD1a molecule	Antithymocyte globulin(DB00098)						392.0	362.0	372.0					1																	158227281		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158227281G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.954G>A	1.37:g.158227281G>A							p.A318A	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			5	1487	+	all_hematologic(112;0.0378)		318					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.954G>A	CCDS1174.1																																																																																				0.458	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		96	169	0	0	0	1	0	96	169				
FOXK2	3607	broad.mit.edu	37	17	80559225	80559225	+	Silent	SNP	G	G	A	rs151062508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80559225G>A	ENST00000335255.5	+	9	2007	c.1833G>A	c.(1831-1833)tcG>tcA	p.S611S	RP13-638C3.4_ENST00000576912.1_RNA|FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	611					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CATCCGCATCGGCCTCCCTGC	0.622																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1831-1833)tcG>tcA		forkhead box K2		G		0,4406		0,0,2203	90.0	75.0	80.0		1833	-10.2	0.0	17	dbSNP_134	80	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FOXK2	NM_004514.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		611/661	80559225	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80559225G>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1833G>A	17.37:g.80559225G>A						FOXK2_ENST00000529652.1_3'UTR	p.S611S	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		9	2007	+	Breast(20;0.00106)|all_neural(118;0.0952)		611					A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.1833G>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	G	0.468	-0.886020	0.02511	0.0	3.49E-4	ENSG00000141568	ENST00000335241	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	T	0.50616	0.1626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64786	-0.6325	5	0.87932	D	0	.	3.6069	0.08046	0.3493:0.374:0.1413:0.1354	.	.	.	.	S	319	.	ENSP00000334321:G319S	G	+	1	0	FOXK2	78152514	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-2.666000	0.00847	-2.718000	0.00390	-1.779000	0.00650	GGC		0.622	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		12	29	0	0	0	1	0	12	29				
MORC2	22880	broad.mit.edu	37	22	31324094	31324094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31324094C>T	ENST00000397641.3	-	25	3350	c.2942G>A	c.(2941-2943)cGc>cAc	p.R981H	MORC2-AS1_ENST00000422995.2_RNA|MORC2-AS1_ENST00000609557.1_RNA|MORC2-AS1_ENST00000441558.1_RNA|MORC2-AS1_ENST00000432624.2_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.R919H			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	981						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCGGAGGTGCGCAGGCTTTC	0.587																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2755-2757)cGc>cAc		MORC family CW-type zinc finger 2							69.0	62.0	64.0					22																	31324094		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31324094C>T	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2942G>A	22.37:g.31324094C>T	ENSP00000380763:p.Arg981His					MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000397641.2_Missense_Mutation_p.R981H	p.R919H	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			26	4119	-			981					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.2756G>A		.	.	.	.	.	.	.	.	.	.	C	14.37	2.514854	0.44763	.	.	ENSG00000133422	ENST00000397641;ENST00000429468;ENST00000215862	T;T	0.12255	2.7;2.7	5.45	4.43	0.53597	.	0.207551	0.50627	D	0.000109	T	0.08447	0.0210	N	0.12182	0.205	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16748	-1.0392	10	0.38643	T	0.18	.	12.1279	0.53926	0.0:0.8567:0.0:0.1433	.	981	Q9Y6X9	MORC2_HUMAN	H	981;41;919	ENSP00000380763:R981H;ENSP00000215862:R919H	ENSP00000215862:R919H	R	-	2	0	MORC2	29654094	1.000000	0.71417	0.855000	0.33649	0.642000	0.38348	1.863000	0.39459	1.289000	0.44618	0.561000	0.74099	CGC		0.587	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		15	20	0	0	0	1	0	15	20				
VN1R1	57191	broad.mit.edu	37	19	57967778	57967778	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57967778G>T	ENST00000321039.3	-	1	76	c.77C>A	c.(76-78)tCt>tAt	p.S26Y	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	26					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAGGTCTGAAGAATCAGTAGA	0.353																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(76-78)tCt>tAt		vomeronasal 1 receptor 1							60.0	62.0	61.0					19																	57967778		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967778G>T	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.77C>A	19.37:g.57967778G>T	ENSP00000322339:p.Ser26Tyr					AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	p.S26Y	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	76	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	26					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.77C>A	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790327	0.16258	.	.	ENSG00000178201	ENST00000321039	T	0.10288	2.89	3.71	-1.66	0.08265	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	P	0.46912	0.886	B	0.38428	0.273	T	0.34477	-0.9827	9	0.72032	D	0.01	.	4.5545	0.12130	0.4376:0.1605:0.4018:0.0	.	26	Q9GZP7	VN1R1_HUMAN	Y	26	ENSP00000322339:S26Y	ENSP00000322339:S26Y	S	-	2	0	VN1R1	62659590	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.066000	0.11598	-0.256000	0.09473	-0.540000	0.04249	TCT		0.353	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		4	66	1	0	2.56e-06	1	2.9446e-06	4	66				
ADCK2	90956	broad.mit.edu	37	7	140373929	140373929	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140373929C>A	ENST00000072869.4	+	1	977	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	ADCK2_ENST00000476491.1_Missense_Mutation_p.L267I	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCCAGAAAATCTCGCAGACCA	0.577																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(799-801)Ctc>Atc		aarF domain containing kinase 2							52.0	60.0	57.0					7																	140373929		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373929C>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.799C>A	7.37:g.140373929C>A	ENSP00000072869:p.Leu267Ile					ADCK2_ENST00000476491.1_Missense_Mutation_p.L267I	p.L267I	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	977	+	Melanoma(164;0.00956)		267			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.799C>A	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.587245|1.587245	0.28268|0.28268	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491|ENST00000483369	T;T|.	0.12147|.	3.08;2.71|.	4.21|4.21	3.23|3.23	0.37069|0.37069	.|.	0.673398|.	0.14399|.	N|.	0.321989|.	T|T	0.42063|0.42063	0.1186|0.1186	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	B;B|.	0.32507|.	0.373;0.105|.	B;B|.	0.24155|.	0.051;0.021|.	T|T	0.33879|0.33879	-0.9851|-0.9851	10|5	0.29301|.	T|.	0.29|.	-13.0369|-13.0369	4.1734|4.1734	0.10341|0.10341	0.0:0.7466:0.0:0.2534|0.0:0.7466:0.0:0.2534	.|.	267;267|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	I|Y	267|104	ENSP00000072869:L267I;ENSP00000420512:L267I|.	ENSP00000072869:L267I|.	L|S	+|+	1|2	0|0	ADCK2|ADCK2	140020398|140020398	0.001000|0.001000	0.12720|0.12720	0.680000|0.680000	0.29994|0.29994	0.465000|0.465000	0.32709|0.32709	0.345000|0.345000	0.19979|0.19979	2.189000|2.189000	0.69895|0.69895	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.577	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		5	72	1	0	1	1	1	5	72				
MAML3	55534	broad.mit.edu	37	4	140811295	140811295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811295G>T	ENST00000509479.2	-	2	2151	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.P276H	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCCAGGCCGAGGTGGAGCTTG	0.597																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1294-1296)cCt>cAt		mastermind-like 3 (Drosophila)							88.0	86.0	87.0					4																	140811295		2094	4224	6318	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811295G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1295C>A	4.37:g.140811295G>T	ENSP00000421180:p.Pro432His					MAML3_ENST00000327122.5_Missense_Mutation_p.P276H	p.P432H	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2151	-	all_hematologic(180;0.162)		432						Missense_Mutation	SNP	ENST00000509479.2	37	c.1295C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084327	0.55861	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.24538	1.85	5.83	5.83	0.93111	.	0.338457	0.30556	N	0.009367	T	0.23926	0.0579	L	0.34521	1.04	0.80722	D	1	B	0.33448	0.412	B	0.34722	0.188	T	0.02942	-1.1091	10	0.72032	D	0.01	.	15.2296	0.73378	0.0688:0.0:0.9312:0.0	.	432	Q96JK9	MAML3_HUMAN	H	432;276	ENSP00000421180:P432H	ENSP00000313316:P276H	P	-	2	0	MAML3	141030745	0.996000	0.38824	0.744000	0.31058	0.932000	0.56968	5.138000	0.64795	2.749000	0.94314	0.650000	0.86243	CCT		0.597	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	54	1	0	0.184627	1	0.186383	5	54				
OBSCN	84033	broad.mit.edu	37	1	228491436	228491436	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228491436C>T	ENST00000422127.1	+	44	11703				OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.A4600V|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1290V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCACAGCTGTGCTGCAG	0.587																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13798-13800)gCt>gTt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							136.0	122.0	126.0					1																	228491436		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228491436C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11660-2637C>T	1.37:g.228491436C>T						OBSCN_ENST00000366707.4_Missense_Mutation_p.A1290V|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron	p.A4600V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			52	13873	+		Prostate(94;0.0405)	3643			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13799C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581060	0.46006	.	.	ENSG00000154358	ENST00000366707	T	0.04454	3.62	4.34	1.0	0.19881	.	.	.	.	.	T	0.01627	0.0052	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	T	0.47209	-0.9135	6	0.02654	T	1	.	4.9375	0.13948	0.0:0.4868:0.161:0.3522	.	.	.	.	V	1290	ENSP00000355668:A1290V	ENSP00000355668:A1290V	A	+	2	0	OBSCN	226558059	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.908000	0.04063	0.404000	0.25506	-0.474000	0.04947	GCT		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		22	62	0	0	0	1	0	22	62				
ARHGEF17	9828	broad.mit.edu	37	11	73071440	73071440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73071440G>A	ENST00000263674.3	+	11	4632	c.4282G>A	c.(4282-4284)Gcg>Acg	p.A1428T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1428					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTGTGCTACGCGCTTTCCTT	0.657																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4282-4284)Gcg>Acg		Rho guanine nucleotide exchange factor (GEF) 17							109.0	120.0	117.0					11																	73071440		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071440G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4282G>A	11.37:g.73071440G>A	ENSP00000263674:p.Ala1428Thr						p.A1428T	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			11	4632	+			1428					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.4282G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398235	0.42512	.	.	ENSG00000110237	ENST00000263674	T	0.34072	1.38	5.81	0.658	0.17855	.	0.469877	0.25625	N	0.029386	T	0.11836	0.0288	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23976	-1.0173	10	0.10636	T	0.68	-5.1556	3.8258	0.08853	0.4206:0.0:0.3676:0.2118	.	1428	Q96PE2	ARHGH_HUMAN	T	1428	ENSP00000263674:A1428T	ENSP00000263674:A1428T	A	+	1	0	ARHGEF17	72749088	0.711000	0.27906	0.037000	0.18230	0.924000	0.55760	2.468000	0.45102	0.196000	0.20367	0.655000	0.94253	GCG		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		51	94	0	0	0	1	0	51	94				
CNDP2	55748	broad.mit.edu	37	18	72173218	72173218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72173218C>T	ENST00000324262.4	+	4	655	c.339C>T	c.(337-339)agC>agT	p.S113S	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Silent_p.S113S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	113					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GCTGGGACAGCGAGCCCTTCA	0.617																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(337-339)agC>agT		CNDP dipeptidase 2 (metallopeptidase M20 family)							51.0	52.0	51.0					18																	72173218		2203	4300	6503	SO:0001819	synonymous_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72173218C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.339C>T	18.37:g.72173218C>T						CNDP2_ENST00000579847.1_Silent_p.S113S|CNDP2_ENST00000324301.8_Intron	p.S113S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	4	655	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	113					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	c.339C>T	CCDS12006.1																																																																																				0.617	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		15	35	0	0	0	1	0	15	35				
CDX4	1046	broad.mit.edu	37	X	72673430	72673430	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72673430T>C	ENST00000373514.2	+	2	580	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	194					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGAATTCCATTGCAATAGATA	0.423																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(580-582)Tgc>Cgc		caudal type homeobox 4							85.0	71.0	76.0					X																	72673430		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72673430T>C	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.580T>C	X.37:g.72673430T>C	ENSP00000362613:p.Cys194Arg						p.C194R	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			2	580	+	Renal(35;0.156)		194					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.580T>C	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	12.82	2.053306	0.36181	.	.	ENSG00000131264	ENST00000373514	D	0.95756	-3.8	3.63	3.63	0.41609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.128888	0.53938	D	0.000051	D	0.91095	0.7197	N	0.02158	-0.66	0.58432	D	0.999999	D	0.61080	0.989	P	0.60789	0.879	D	0.91932	0.5556	10	0.87932	D	0	-13.6024	9.8087	0.40808	0.0:0.0:0.0:1.0	.	194	O14627	CDX4_HUMAN	R	194	ENSP00000362613:C194R	ENSP00000362613:C194R	C	+	1	0	CDX4	72590155	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.013000	0.76373	1.263000	0.44181	0.356000	0.21956	TGC		0.423	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		3	37	0	0	0	1	0	3	37				
MEF2A	4205	broad.mit.edu	37	15	100173378	100173378	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100173378G>T	ENST00000557785.1	+	3	403	c.54G>T	c.(52-54)caG>caT	p.Q18H	MEF2A_ENST00000558856.1_3'UTR|MEF2A_ENST00000338042.6_Splice_Site_p.Q18H|MEF2A_ENST00000453228.2_Splice_Site_p.Q18H|MEF2A_ENST00000557942.1_Splice_Site_p.Q18H|MEF2A_ENST00000558812.1_Splice_Site_p.Q18H|MEF2A_ENST00000449277.2_Splice_Site_p.Q18H|MEF2A_ENST00000354410.5_Splice_Site_p.Q18H	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	18	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAACCGACAGGTAAATGaaa	0.274																																						ENST00000354410.5																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.e3+1		myocyte enhancer factor 2A							32.0	30.0	31.0					15																	100173378		1782	4051	5833	SO:0001630	splice_region_variant	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100173378G>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.54+1G>T	15.37:g.100173378G>T						MEF2A_ENST00000557785.1_Splice_Site_p.Q18_splice|MEF2A_ENST00000557942.1_Splice_Site_p.Q18_splice|MEF2A_ENST00000449277.2_Splice_Site_p.Q18_splice|MEF2A_ENST00000338042.6_Splice_Site_p.Q18_splice|MEF2A_ENST00000558856.1_3'UTR|MEF2A_ENST00000453228.2_Splice_Site_p.Q18_splice|MEF2A_ENST00000558812.1_Splice_Site_p.Q18_splice	p.Q18_splice	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		3	683	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		18			Lys-rich (basic).|MADS-box.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Splice_Site	SNP	ENST00000557785.1	37	c.54_splice	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001640	0.74818	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	D;D;D;T	0.83837	-1.77;-1.77;-1.77;1.09	5.25	5.25	0.73442	Transcription factor, MADS-box (6);	0.054246	0.85682	D	0.000000	D	0.89849	0.6834	M	0.72894	2.215	0.80722	D	1	P;B;P;D;P;D	0.76494	0.881;0.375;0.661;0.999;0.855;0.998	P;B;B;D;P;D	0.81914	0.748;0.332;0.248;0.995;0.632;0.995	D	0.90358	0.4371	10	0.59425	D	0.04	-2.6637	14.3396	0.66617	0.0:0.0:1.0:0.0	.	18;18;7;18;18;18	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	H	18	ENSP00000404110:Q18H;ENSP00000346389:Q18H;ENSP00000337202:Q18H;ENSP00000399460:Q18H	ENSP00000337202:Q18H	Q	+	3	2	MEF2A	97990901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.254000	0.78329	2.447000	0.82792	0.557000	0.71058	CAG		0.274	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		Missense_Mutation	7	5	1	0	8.12818e-05	1	8.99451e-05	7	5				
TSGA13	114960	broad.mit.edu	37	7	130364093	130364093	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130364093A>G	ENST00000456951.1	-	6	1138	c.287T>C	c.(286-288)tTa>tCa	p.L96S	TSGA13_ENST00000356588.3_Missense_Mutation_p.L96S			Q96PP4	TSG13_HUMAN	testis specific, 13	96										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CATAATCAGTAACGTCTTATC	0.443																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(286-288)tTa>tCa		testis specific, 13							310.0	263.0	279.0					7																	130364093		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130364093A>G	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.287T>C	7.37:g.130364093A>G	ENSP00000406047:p.Leu96Ser					TSGA13_ENST00000356588.3_Missense_Mutation_p.L96S	p.L96S			Q96PP4	TSG13_HUMAN			6	1138	-	Melanoma(18;0.0435)		96					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.287T>C	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270324	0.40194	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.11	1.52	0.23074	.	0.592670	0.14143	N	0.338541	T	0.32971	0.0847	L	0.34521	1.04	0.27563	N	0.950116	P	0.36144	0.539	B	0.40782	0.34	T	0.22556	-1.0213	9	0.59425	D	0.04	-0.4927	6.4815	0.22065	0.7183:0.0:0.2817:0.0	.	96	Q96PP4	TSG13_HUMAN	S	96	.	ENSP00000348996:L96S	L	-	2	0	TSGA13	130014633	0.430000	0.25538	0.916000	0.36221	0.219000	0.24729	0.547000	0.23299	0.115000	0.18071	-0.376000	0.06991	TTA		0.443	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		23	84	0	0	0	1	0	23	84				
TBC1D22A	25771	broad.mit.edu	37	22	47290733	47290733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290733G>T	ENST00000337137.4	+	7	1057	c.891G>T	c.(889-891)aaG>aaT	p.K297N	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.K238N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.K219N	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	297	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGCAGCCCAAGGTGACGGAGG	0.557																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(889-891)aaG>aaT		TBC1 domain family, member 22A							195.0	148.0	164.0					22																	47290733		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47290733G>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.891G>T	22.37:g.47290733G>T	ENSP00000336724:p.Lys297Asn					TBC1D22A_ENST00000406733.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.K238N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.K219N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.K250N	p.K297N	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	7	1057	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	297			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.891G>T	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544615	0.45280	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.06	-0.921	0.10472	Rab-GAP/TBC domain (4);	0.313642	0.35838	N	0.002941	T	0.11196	0.0273	L	0.43757	1.38	0.47009	D	0.999281	B;P;P;B	0.43542	0.376;0.773;0.81;0.376	B;B;P;B	0.44447	0.137;0.321;0.45;0.137	T	0.13764	-1.0497	10	0.37606	T	0.19	.	5.1823	0.15167	0.4369:0.157:0.4061:0.0	.	297;219;238;297	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	N	297;250;238;219;250	ENSP00000336724:K297N;ENSP00000370383:K250N;ENSP00000384036:K238N;ENSP00000347932:K219N;ENSP00000385634:K250N	ENSP00000336724:K297N	K	+	3	2	TBC1D22A	45669397	0.999000	0.42202	0.990000	0.47175	0.474000	0.32979	0.573000	0.23699	-0.175000	0.10725	0.655000	0.94253	AAG		0.557	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		21	40	1	0	7.87624e-14	1	1.00187e-13	21	40				
DNAH8	1769	broad.mit.edu	37	6	38705719	38705719	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38705719C>T	ENST00000359357.3	+	5	690	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	DNAH8_ENST00000449981.2_Silent_p.L363L|DNAH8_ENST00000441566.1_Silent_p.L146L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	146					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGAAGTGCTGATGGTATG	0.403																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(436-438)Ctg>Ttg		dynein, axonemal, heavy chain 8							136.0	131.0	133.0					6																	38705719		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38705719C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.436C>T	6.37:g.38705719C>T						DNAH8_ENST00000441566.1_Silent_p.L146L|DNAH8_ENST00000449981.2_Silent_p.L363L	p.L146L							5	690	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.436C>T																																																																																					0.403	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	116	0	0	0	1	0	7	116				
PDE4B	5142	broad.mit.edu	37	1	66831427	66831427	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66831427C>T	ENST00000329654.4	+	13	1549	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	PDE4B_ENST00000371049.3_Silent_p.S454S|PDE4B_ENST00000480109.2_Silent_p.S221S|PDE4B_ENST00000423207.2_Silent_p.S439S|PDE4B_ENST00000371045.5_Silent_p.S282S	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	454					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CTGGAGTCTCCAATCAGTTTC	0.413																																						ENST00000423207.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(1315-1317)tcC>tcT		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						106.0	99.0	102.0					1																	66831427		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66831427C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1362C>T	1.37:g.66831427C>T						PDE4B_ENST00000371049.3_Silent_p.S454S|PDE4B_ENST00000480109.2_Silent_p.S221S|PDE4B_ENST00000371045.5_Silent_p.S282S|PDE4B_ENST00000329654.4_Silent_p.S454S	p.S439S	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN			11	1802	+			454					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.1317C>T	CCDS632.1																																																																																				0.413	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		5	33	0	0	0	1	0	5	33				
DDX47	51202	broad.mit.edu	37	12	12976874	12976874	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12976874A>C	ENST00000358007.3	+	8	843	c.821A>C	c.(820-822)aAt>aCt	p.N274T	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	274	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGCACCTGTAATAATACCCAG	0.403																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(820-822)aAt>aCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							170.0	168.0	168.0					12																	12976874		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12976874A>C	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.821A>C	12.37:g.12976874A>C	ENSP00000350698:p.Asn274Thr					DDX47_ENST00000352940.4_Intron|RP11-59H1.3_ENST00000534843.1_3'UTR	p.N274T	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	8	843	+		Prostate(47;0.0526)	274			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.821A>C	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018787	0.35606	.	.	ENSG00000213782	ENST00000358007	T	0.04758	3.56	5.53	4.37	0.52481	Helicase, C-terminal (1);	0.048122	0.85682	D	0.000000	T	0.02888	0.0086	N	0.11560	0.145	0.58432	D	0.999999	B;B	0.25955	0.015;0.138	B;B	0.25987	0.028;0.065	T	0.47849	-0.9085	10	0.10111	T	0.7	-12.3337	11.8483	0.52397	0.8688:0.0:0.0:0.1312	.	274;274	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	T	274	ENSP00000350698:N274T	ENSP00000350698:N274T	N	+	2	0	DDX47	12868141	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.049000	0.93837	0.905000	0.36596	0.459000	0.35465	AAT		0.403	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		49	68	0	0	0	1	0	49	68				
M1AP	130951	broad.mit.edu	37	2	74787407	74787407	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74787407G>A	ENST00000290536.5	-	9	1409	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	M1AP_ENST00000409585.1_Silent_p.D431D|M1AP_ENST00000536235.1_Silent_p.D431D|M1AP_ENST00000358434.2_Silent_p.D80D|M1AP_ENST00000464686.1_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	431					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D431E(1)									GCTCCAGGCTGTCCAGCATGC	0.567																																						ENST00000290536.5																			1	Substitution - Missense(1)	p.D431E(1)	lung(1)								c.(1291-1293)gaC>gaT		meiosis 1 associated protein							82.0	80.0	81.0					2																	74787407		2203	4300	6503	SO:0001819	synonymous_variant	130951							g.chr2:74787407G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1293C>T	2.37:g.74787407G>A						M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Silent_p.D80D|M1AP_ENST00000409585.1_Silent_p.D431D|M1AP_ENST00000536235.1_Silent_p.D431D	p.D431D	NM_138804.3	NP_620159.2					9	1409	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	c.1293C>T	CCDS33229.1																																																																																				0.567	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		19	34	0	0	0	1	0	19	34				
RAB34	83871	broad.mit.edu	37	17	27043037	27043037	+	Silent	SNP	C	C	T	rs142412914	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27043037C>T	ENST00000395245.3	-	3	812	c.186G>A	c.(184-186)tcG>tcA	p.S62S	RAB34_ENST00000395243.3_Silent_p.S62S|RAB34_ENST00000395242.2_Silent_p.S63S|RAB34_ENST00000415040.2_Intron|RAB34_ENST00000450529.1_Silent_p.S62S|RAB34_ENST00000436730.3_Silent_p.S62S|RAB34_ENST00000301043.6_Silent_p.S62S|RAB34_ENST00000453384.3_Silent_p.S120S|RAB34_ENST00000447716.1_Silent_p.S119S	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	62					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCTTCCCCACCGACAGGTCCC	0.592																																					Pancreas(175;216 2049 29940 32498 41589)	ENST00000395245.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14						c.(184-186)tcG>tcA		RAB34, member RAS oncogene family		C	,,,,	2,4404	4.2+/-10.8	0,2,2201	79.0	79.0	79.0		357,360,186,357,186	-11.8	0.0	17	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAB34	NM_001142624.2,NM_001142625.2,NM_001144942.1,NM_001144943.1,NM_031934.5	,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,	119/309,120/269,62/252,119/317,62/260	27043037	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27043037C>T	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.186G>A	17.37:g.27043037C>T						RAB34_ENST00000395242.2_Silent_p.S63S|RAB34_ENST00000453384.3_Silent_p.S120S|RAB34_ENST00000447716.1_Silent_p.S119S|RAB34_ENST00000436730.3_Silent_p.S62S|RAB34_ENST00000415040.2_Intron|RAB34_ENST00000395243.3_Silent_p.S62S|RAB34_ENST00000450529.1_Silent_p.S62S|RAB34_ENST00000301043.6_Silent_p.S62S	p.S62S	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN			3	812	-	Lung NSC(42;0.00431)		62					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Silent	SNP	ENST00000395245.3	37	c.186G>A	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250690	0.10130	4.54E-4	0.0	ENSG00000109113	ENST00000419712	.	.	.	5.92	-11.8	0.00035	.	.	.	.	.	T	0.13884	0.0336	.	.	.	.	.	.	.	.	.	.	.	.	T	0.09796	-1.0658	3	.	.	.	-6.8482	2.8548	0.05569	0.2236:0.447:0.1675:0.1619	.	.	.	.	Q	83	.	.	R	-	2	0	RAB34	24067164	0.000000	0.05858	0.016000	0.15963	0.951000	0.60555	-5.545000	0.00114	-4.876000	0.00028	-1.259000	0.01468	CGG		0.592	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		10	32	0	0	0	1	0	10	32				
DIP2C	22982	broad.mit.edu	37	10	465045	465045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:465045C>T	ENST00000280886.6	-	6	786	c.699G>A	c.(697-699)gcG>gcA	p.A233A	DIP2C_ENST00000381496.3_Silent_p.A126A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	233						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTACTTGGGCGCTGTCCGGG	0.557																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(697-699)gcG>gcA		DIP2 disco-interacting protein 2 homolog C (Drosophila)							124.0	115.0	118.0					10																	465045		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:465045C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.699G>A	10.37:g.465045C>T						DIP2C_ENST00000381496.3_Silent_p.A126A	p.A233A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	6	786	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	233					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.699G>A	CCDS7054.1																																																																																				0.557	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		15	40	0	0	0	1	0	15	40				
KATNA1	11104	broad.mit.edu	37	6	149922851	149922851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149922851G>A	ENST00000335647.5	-	6	811	c.767C>T	c.(766-768)aCg>aTg	p.T256M	KATNA1_ENST00000367411.2_Missense_Mutation_p.T256M|KATNA1_ENST00000335643.8_Missense_Mutation_p.T180M|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCAAGGAGCGTCTTCCCCGT	0.438																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(766-768)aCg>aTg		katanin p60 (ATPase containing) subunit A 1							103.0	94.0	97.0					6																	149922851		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149922851G>A	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.767C>T	6.37:g.149922851G>A	ENSP00000335106:p.Thr256Met					KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335647.5_Missense_Mutation_p.T256M|KATNA1_ENST00000335643.8_Missense_Mutation_p.T180M	p.T256M	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	7	1025	-		Ovarian(120;0.0164)	256						Missense_Mutation	SNP	ENST00000335647.5	37	c.767C>T	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116518	0.77323	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282	D;D;D;D	0.98602	-5.02;-4.81;-5.02;-4.81	5.85	5.85	0.93711	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.99634	4.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97583	1.0112	9	.	.	.	.	20.1663	0.98152	0.0:0.0:1.0:0.0	.	256;180;256	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	M	256;180;256;256	ENSP00000335106:T256M;ENSP00000335180:T180M;ENSP00000356381:T256M;ENSP00000390322:T256M	.	T	-	2	0	KATNA1	149964544	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	9.835000	0.99442	2.773000	0.95371	0.585000	0.79938	ACG		0.438	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		18	34	0	0	0	1	0	18	34				
KIAA0513	9764	broad.mit.edu	37	16	85121920	85121920	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85121920G>A	ENST00000566428.1	+	13	1856	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	KIAA0513_ENST00000258180.3_Missense_Mutation_p.A409T|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A399T			O60268	K0513_HUMAN	KIAA0513	409						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAGCAAATGGCCACTGAGTA	0.562																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(1225-1227)Gcc>Acc		KIAA0513							101.0	94.0	97.0					16																	85121920		2198	4300	6498	SO:0001583	missense	9764					cytoplasm		g.chr16:85121920G>A	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.1225G>A	16.37:g.85121920G>A	ENSP00000457408:p.Ala409Thr					KIAA0513_ENST00000258180.3_Missense_Mutation_p.A409T|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A399T	p.A409T			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	13	1856	+			409					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.1225G>A	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159153	0.57368	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.50813	0.73;0.77	5.18	3.19	0.36642	.	0.105806	0.64402	N	0.000005	T	0.39627	0.1085	L	0.44542	1.39	0.47407	D	0.999417	B;B	0.20052	0.026;0.041	B;B	0.19946	0.027;0.019	T	0.25710	-1.0124	10	0.62326	D	0.03	-12.3094	10.83	0.46654	0.1583:0.0:0.8417:0.0	.	399;409	B4DSS5;O60268	.;K0513_HUMAN	T	399;409	ENSP00000446439:A399T;ENSP00000258180:A409T	ENSP00000258180:A409T	A	+	1	0	KIAA0513	83679421	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	4.787000	0.62432	0.559000	0.29153	0.655000	0.94253	GCC		0.562	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		26	42	0	0	0	1	0	26	42				
KIAA1683	80726	broad.mit.edu	37	19	18376492	18376492	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376492A>C	ENST00000600328.3	-	3	2051	c.1858T>G	c.(1858-1860)Ttt>Gtt	p.F620V	KIAA1683_ENST00000600359.3_Missense_Mutation_p.F574V|KIAA1683_ENST00000392413.4_Missense_Mutation_p.F620V			Q9H0B3	K1683_HUMAN	KIAA1683	620						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGTCTTAAATGCCATGTCT	0.542																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1858-1860)Ttt>Gtt		KIAA1683							67.0	69.0	68.0					19																	18376492		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18376492A>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1858T>G	19.37:g.18376492A>C	ENSP00000470780:p.Phe620Val					KIAA1683_ENST00000600359.2_Missense_Mutation_p.F574V|KIAA1683_ENST00000600328.2_Missense_Mutation_p.F620V	p.F620V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	2073	-			620					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.1858T>G	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	A	2.596	-0.294102	0.05568	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.03212	4.09;4.09;4.01	3.94	-4.06	0.03986	.	2.428330	0.01954	N	0.042857	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.43925	-0.9361	10	0.24483	T	0.36	0.5922	6.2822	0.21013	0.3534:0.0:0.4993:0.1473	.	620;620	E9PDE0;Q9H0B3	.;K1683_HUMAN	V	620;620;574	ENSP00000376213:F620V;ENSP00000352774:F620V;ENSP00000404501:F574V	ENSP00000352774:F620V	F	-	1	0	KIAA1683	18237492	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.072000	0.14617	-1.244000	0.02516	-1.151000	0.01829	TTT		0.542	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			4	64	0	0	0	1	0	4	64				
CGNL1	84952	broad.mit.edu	37	15	57745976	57745976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57745976C>T	ENST00000281282.5	+	7	2228	c.2150C>T	c.(2149-2151)gCa>gTa	p.A717V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	717						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTGGACAGTGCAAAGCGATCG	0.557																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(2149-2151)gCa>gTa		cingulin-like 1							133.0	114.0	120.0					15																	57745976		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57745976C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2150C>T	15.37:g.57745976C>T	ENSP00000281282:p.Ala717Val						p.A717V	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	7	2228	+			717					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.2150C>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706213	0.89018	.	.	ENSG00000128849	ENST00000281282	T	0.37915	1.17	5.23	5.23	0.72850	.	0.402618	0.20965	N	0.082494	T	0.40196	0.1107	L	0.54323	1.7	0.45076	D	0.99809	B	0.33494	0.414	B	0.36845	0.234	T	0.17961	-1.0352	10	0.30854	T	0.27	-14.7224	18.8045	0.92030	0.0:1.0:0.0:0.0	.	717	Q0VF96	CGNL1_HUMAN	V	717	ENSP00000281282:A717V	ENSP00000281282:A717V	A	+	2	0	CGNL1	55533268	1.000000	0.71417	0.610000	0.28997	0.729000	0.41735	7.450000	0.80656	2.441000	0.82636	0.549000	0.68633	GCA		0.557	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		13	14	0	0	0	1	0	13	14				
POLL	27343	broad.mit.edu	37	10	103345153	103345153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103345153C>T	ENST00000370162.3	-	4	987	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000370158.3_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.A165T|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370172.1_Missense_Mutation_p.A77T|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.A165T|POLL_ENST00000436284.2_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000370151.4_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	165					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGAAAGGGCTGTCTGAAGC	0.597								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(493-495)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							225.0	186.0	199.0					10																	103345153		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345153C>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.493G>A	10.37:g.103345153C>T	ENSP00000359181:p.Ala165Thr					DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.A165T|POLL_ENST00000370172.1_Missense_Mutation_p.A77T|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.A165T|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron	p.A165T	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	987	-		Colorectal(252;0.234)	165					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.493G>A	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	7.135	0.580601	0.13686	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;T	0.45276	2.73;2.73;2.75;2.73;2.24;1.48;0.9	4.89	1.71	0.24356	.	0.915318	0.09655	N	0.773127	T	0.28333	0.0700	L	0.33485	1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24190	-1.0167	10	0.30854	T	0.27	-33.3885	4.5194	0.11952	0.0:0.551:0.2415:0.2075	.	165;165	Q9UGP5;A8K860	DPOLL_HUMAN;.	T	165;165;165;77;165;165;165;176;165;165	ENSP00000299206:A165T;ENSP00000359188:A165T;ENSP00000359191:A77T;ENSP00000359181:A165T;ENSP00000400676:A165T;ENSP00000411678:A176T;ENSP00000400517:A165T	ENSP00000299206:A165T	A	-	1	0	POLL	103335143	0.097000	0.21791	0.006000	0.13384	0.023000	0.10783	0.323000	0.19593	0.248000	0.21435	0.561000	0.74099	GCC		0.597	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		24	42	0	0	0	1	0	24	42				
KNDC1	85442	broad.mit.edu	37	10	135015155	135015155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135015155A>G	ENST00000304613.3	+	17	3161	c.3140A>G	c.(3139-3141)cAg>cGg	p.Q1047R	KNDC1_ENST00000368571.2_Missense_Mutation_p.Q982R|KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1049R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1047					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGAGCGCAGCAGCCTGAGGCT	0.667																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3139-3141)cAg>cGg		kinase non-catalytic C-lobe domain (KIND) containing 1							38.0	45.0	43.0					10																	135015155		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015155A>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3140A>G	10.37:g.135015155A>G	ENSP00000304437:p.Gln1047Arg					KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1049R|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q982R	p.Q1047R			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3161	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1047					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3140A>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600966	0.28534	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.10477	2.87;2.87;2.87	4.59	-7.22	0.01485	.	0.714911	0.12539	N	0.460105	T	0.06096	0.0158	L	0.27053	0.805	0.09310	N	1	B;B;B	0.18166	0.026;0.021;0.003	B;B;B	0.20384	0.029;0.015;0.002	T	0.37220	-0.9715	10	0.31617	T	0.26	-1.4278	10.5856	0.45280	0.6817:0.2356:0.0827:0.0	.	1047;982;1047	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	R	1047;1049;982	ENSP00000304437:Q1047R;ENSP00000357561:Q1049R;ENSP00000357560:Q982R	ENSP00000304437:Q1047R	Q	+	2	0	KNDC1	134865145	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-0.964000	0.03833	-0.701000	0.05063	0.260000	0.18958	CAG		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		13	24	0	0	0	1	0	13	24				
ZNF528	84436	broad.mit.edu	37	19	52918740	52918740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52918740C>A	ENST00000360465.3	+	7	1061	c.635C>A	c.(634-636)cCt>cAt	p.P212H	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAGATAATCCTTACAAATGC	0.398																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(634-636)cCt>cAt		zinc finger protein 528							100.0	98.0	99.0					19																	52918740		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918740C>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.635C>A	19.37:g.52918740C>A	ENSP00000353652:p.Pro212His					ZNF528_ENST00000391788.2_3'UTR	p.P212H	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1061	+			212					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.635C>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153513	0.38021	.	.	ENSG00000167555	ENST00000360465	T	0.20881	2.04	1.85	0.749	0.18381	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48241	0.1489	M	0.91510	3.215	0.23563	N	0.997403	D	0.89917	1.0	D	0.71184	0.972	T	0.28004	-1.0057	9	0.72032	D	0.01	.	6.9088	0.24323	0.0:0.8391:0.0:0.1609	.	212	Q3MIS6	ZN528_HUMAN	H	212	ENSP00000353652:P212H	ENSP00000353652:P212H	P	+	2	0	ZNF528	57610552	0.000000	0.05858	0.031000	0.17742	0.033000	0.12548	0.529000	0.23019	0.101000	0.17610	0.491000	0.48974	CCT		0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		6	76	1	0	0.217242	1	0.218821	6	76				
RARRES1	5918	broad.mit.edu	37	3	158415601	158415601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158415601G>A	ENST00000237696.5	-	6	1031	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	RP11-379F4.6_ENST00000606185.1_lincRNA	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	251					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAGTGAATGCGACAGGGAATT	0.378																																						ENST00000237696.5																			0				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(751-753)Cgc>Tgc		retinoic acid receptor responder (tazarotene induced) 1	Tretinoin(DB00755)						83.0	85.0	84.0					3																	158415601		2203	4300	6503	SO:0001583	missense	0				negative regulation of cell proliferation	integral to membrane		g.chr3:158415601G>A	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.751C>T	3.37:g.158415601G>A	ENSP00000237696:p.Arg251Cys						p.R251C	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		6	1031	-			251					Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	37	c.751C>T	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834882	0.50951	.	.	ENSG00000118849	ENST00000237696	T	0.26518	1.73	5.73	4.86	0.63082	.	0.653776	0.17141	N	0.185445	T	0.44787	0.1310	M	0.62723	1.935	0.21897	N	0.99949	D	0.89917	1.0	D	0.64506	0.926	T	0.31779	-0.9931	10	0.72032	D	0.01	-31.8035	10.8564	0.46802	0.0:0.1414:0.7119:0.1467	.	251	P49788	TIG1_HUMAN	C	251	ENSP00000237696:R251C	ENSP00000237696:R251C	R	-	1	0	RARRES1	159898295	0.170000	0.23016	0.019000	0.16419	0.753000	0.42808	2.111000	0.41883	1.410000	0.46936	0.650000	0.86243	CGC		0.378	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1			28	54	0	0	0	1	0	28	54				
OR10V1	390201	broad.mit.edu	37	11	59480455	59480455	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59480455G>T	ENST00000307552.2	-	1	882	c.864C>A	c.(862-864)ccC>ccA	p.P288P	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TATAGATCAAGGGGTTTAAAA	0.433																																						ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(862-864)ccC>ccA		olfactory receptor, family 10, subfamily V, member 1							126.0	135.0	132.0					11																	59480455		2201	4295	6496	SO:0001819	synonymous_variant	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480455G>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.864C>A	11.37:g.59480455G>T							p.P288P	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN			1	882	-			288					Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	c.864C>A	CCDS31565.1																																																																																				0.433	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		53	83	1	0	4.25531e-23	1	5.6291e-23	53	83				
MRPS5	64969	broad.mit.edu	37	2	95753150	95753150	+	Missense_Mutation	SNP	C	C	A	rs371291468		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95753150C>A	ENST00000272418.2	-	12	1453	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	415					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTCATTCCCTGTGCAGTCT	0.567																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1243-1245)caG>caT		mitochondrial ribosomal protein S5							102.0	96.0	98.0					2																	95753150		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95753150C>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1245G>T	2.37:g.95753150C>A	ENSP00000272418:p.Gln415His						p.Q415H	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			12	1453	-			415					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.1245G>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017032	0.35606	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.98	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	M	0.61703	1.905	0.54753	D	0.999985	P	0.44090	0.826	B	0.33121	0.158	T	0.51919	-0.8644	9	0.87932	D	0	-21.509	8.2157	0.31509	0.0:0.8364:0.0:0.1636	.	415	P82675	RT05_HUMAN	H	415	.	ENSP00000272418:Q415H	Q	-	3	2	MRPS5	95116877	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	1.526000	0.35964	2.855000	0.98099	0.650000	0.86243	CAG		0.567	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		7	48	1	0	0.00198382	1	0.00210581	7	48				
TECPR2	9895	broad.mit.edu	37	14	102894699	102894699	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102894699C>A	ENST00000359520.7	+	7	1290	c.1064C>A	c.(1063-1065)cCt>cAt	p.P355H	TECPR2_ENST00000558678.1_Missense_Mutation_p.P355H	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	355					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCAAGCAGGCCTGAAGGATTA	0.328																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1063-1065)cCt>cAt		tectonin beta-propeller repeat containing 2							70.0	76.0	74.0					14																	102894699		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102894699C>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1064C>A	14.37:g.102894699C>A	ENSP00000352510:p.Pro355His					TECPR2_ENST00000558678.1_Missense_Mutation_p.P355H	p.P355H	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			7	1290	+			355					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1064C>A	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.682069	0.88542	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.37584	1.19	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69587	-0.5105	10	0.87932	D	0	.	19.0339	0.92970	0.0:1.0:0.0:0.0	.	355;355	A5PKY3;O15040	.;TCPR2_HUMAN	H	355	ENSP00000352510:P355H	ENSP00000352510:P355H	P	+	2	0	TECPR2	101964452	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.164000	0.77533	2.508000	0.84585	0.579000	0.79373	CCT		0.328	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		7	66	1	0	2.0095e-06	1	2.31757e-06	7	66				
SCUBE2	57758	broad.mit.edu	37	11	9068913	9068913	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9068913T>C	ENST00000309263.3	-	15	1977	c.1905A>G	c.(1903-1905)gaA>gaG	p.E635E	SCUBE2_ENST00000520467.1_Silent_p.E664E|SCUBE2_ENST00000457346.2_Silent_p.E664E|SCUBE2_ENST00000450649.2_Silent_p.E509E|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	635						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACATTGGTTTTCTGCATGAC	0.557																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1990-1992)gaA>gaG		signal peptide, CUB domain, EGF-like 2							69.0	67.0	68.0					11																	9068913		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9068913T>C	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1905A>G	11.37:g.9068913T>C						SCUBE2_ENST00000520467.1_Silent_p.E664E|SCUBE2_ENST00000450649.2_Silent_p.E509E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.E635E	p.E664E			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	16	2066	-			635					Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.1992A>G																																																																																					0.557	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		4	44	0	0	0	1	0	4	44				
SYNE2	23224	broad.mit.edu	37	14	64465654	64465654	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64465654C>A	ENST00000344113.4	+	27	3588	c.3376C>A	c.(3376-3378)Ctt>Att	p.L1126I	SYNE2_ENST00000357395.3_De_novo_Start_OutOfFrame|SYNE2_ENST00000358025.3_Missense_Mutation_p.L1126I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1126I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1126					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGATATTCTTGAACACCA	0.393																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224								spectrin repeat containing, nuclear envelope 2							129.0	119.0	122.0					14																	64465654		1863	4130	5993	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64465654C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3376C>A	14.37:g.64465654C>A	ENSP00000341781:p.Leu1126Ile					SYNE2_ENST00000344113.4_Missense_Mutation_p.L1126I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1126I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L1126I				Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	0	3606	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Translation_Start_Site	SNP	ENST00000344113.4	37		CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629433	0.28978	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.75589	-0.7;-0.68;-0.95	5.32	5.32	0.75619	.	0.143817	0.32002	N	0.006728	T	0.81697	0.4877	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	T	0.80432	-0.1385	10	0.42905	T	0.14	.	11.6106	0.51057	0.0:0.9167:0.0:0.0833	.	1126;1126	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	1126	ENSP00000350719:L1126I;ENSP00000341781:L1126I;ENSP00000452570:L1126I	ENSP00000261678:L1126I	L	+	1	0	SYNE2	63535407	0.883000	0.30277	0.894000	0.35097	0.232000	0.25224	1.468000	0.35332	2.662000	0.90505	0.655000	0.94253	CTT		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		40	62	1	0	5.75399e-11	1	7.13211e-11	40	62				
STARD13	90627	broad.mit.edu	37	13	33684069	33684069	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33684069G>T	ENST00000336934.5	-	12	3104	c.2988C>A	c.(2986-2988)atC>atA	p.I996I	STARD13_ENST00000399365.3_Silent_p.I878I|STARD13_ENST00000255486.4_Silent_p.I988I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	996	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CATACTGGTAGATCTCTGTTT	0.527											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2986-2988)atC>atA		StAR-related lipid transfer (START) domain containing 13							233.0	187.0	203.0					13																	33684069		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684069G>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2988C>A	13.37:g.33684069G>T			OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	STARD13_ENST00000399365.3_Silent_p.I878I|STARD13_ENST00000255486.4_Silent_p.I988I	p.I996I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	12	3104	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	996			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.2988C>A	CCDS9348.1																																																																																				0.527	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		6	70	1	0	3.59834e-05	1	4.01776e-05	6	70				
CA9	768	broad.mit.edu	37	9	35675906	35675906	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35675906C>T	ENST00000378357.4	+	3	686	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	194	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CAGAACTGCGCCTGCGCAACA	0.726																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(580-582)cgC>cgT		carbonic anhydrase IX							19.0	22.0	21.0					9																	35675906		1754	3609	5363	SO:0001819	synonymous_variant	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35675906C>T	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.582C>T	9.37:g.35675906C>T							p.R194R	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	686	+	all_epithelial(49;0.217)		194			Catalytic.		Q5T4R1	Silent	SNP	ENST00000378357.4	37	c.582C>T	CCDS6585.1																																																																																				0.726	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		7	10	0	0	0	1	0	7	10				
ENPEP	2028	broad.mit.edu	37	4	111434572	111434572	+	Splice_Site	SNP	G	G	A	rs34949711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111434572G>A	ENST00000265162.5	+	7	1652	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	437			R -> H (in dbSNP:rs34949711).		angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCATTTCAGCGTGACCAAATG	0.308													G|||	8	0.00159744	0.0008	0.0029	5008	,	,		18673	0.002		0.003	False		,,,				2504	0.0					ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e7-1		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)	G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	127.0	119.0	122.0		1310	1.2	0.7	4	dbSNP_126	122	35,8565	24.6+/-71.5	0,35,4265	yes	missense-near-splice	ENPEP	NM_001977.3	29	0,38,6465	AA,AG,GG		0.407,0.0681,0.2922	probably-damaging	437/958	111434572	38,12968	2203	4300	6503	SO:0001630	splice_region_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111434572G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1309-1G>A	4.37:g.111434572G>A						RP11-380D23.1_ENST00000503998.1_RNA	p.R437_splice	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	7	1652	+		Hepatocellular(203;0.217)	437		R -> H (in dbSNP:rs34949711).			Q504U2	Splice_Site	SNP	ENST00000265162.5	37	c.1308_splice	CCDS3691.1	5	0.0022893772893772895	0	0.0	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	G	10.77	1.444501	0.25987	6.81E-4	0.00407	ENSG00000138792	ENST00000265162	T	0.02682	4.2	5.39	1.22	0.21188	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.251978	0.40302	N	0.001124	T	0.05686	0.0149	L	0.52905	1.665	0.32701	N	0.512933	D	0.76494	0.999	D	0.63192	0.912	T	0.11842	-1.0571	10	0.15952	T	0.53	.	14.895	0.70636	0.0:0.0:0.2806:0.7193	rs34949711	437	Q07075	AMPE_HUMAN	H	437	ENSP00000265162:R437H	ENSP00000265162:R437H	R	+	2	0	ENPEP	111654021	0.987000	0.35691	0.727000	0.30756	0.966000	0.64601	1.241000	0.32743	0.280000	0.22209	0.655000	0.94253	CGT		0.308	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		Missense_Mutation	8	68	0	0	0	1	0	8	68				
C18orf32	497661	broad.mit.edu	37	18	47010026	47010026	+	Silent	SNP	G	G	A	rs572227147		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47010026G>A	ENST00000318240.3	-	2	304	c.93C>T	c.(91-93)ttC>ttT	p.F31F	C18orf32_ENST00000582392.1_Silent_p.F31F|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.S170L|C18orf32_ENST00000579820.1_Silent_p.F31F|RPL17-C18orf32_ENST00000584895.1_Missense_Mutation_p.S208L|RP11-110H1.4_ENST00000580150.1_RNA	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	31					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)		signal transducer activity (GO:0004871)			large_intestine(2)|lung(1)	3						TACGACTAACGAAGGGGGAAA	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18822	0.0		0.0	False		,,,				2504	0.0					ENST00000584895.1																			0											c.(622-624)tCg>tTg									173.0	164.0	167.0					18																	47010026		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr18:47010026G>A	AK027111	CCDS32831.1	18q21.1	2012-10-24			ENSG00000177576	ENSG00000177576			31690	protein-coding gene	gene with protein product							Standard	NM_001035005		Approved	FLJ23458	uc002ldl.3	Q8TCD1	OTTHUMG00000179688	ENST00000318240.3:c.93C>T	18.37:g.47010026G>A						C18orf32_ENST00000582392.1_Silent_p.F31F|C18orf32_ENST00000579820.1_Silent_p.F31F|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.S170L|C18orf32_ENST00000318240.3_Silent_p.F31F	p.S208L	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1					6	637	-									Missense_Mutation	SNP	ENST00000318240.3	37	c.623C>T	CCDS32831.1																																																																																				0.388	C18orf32-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447656.1	NM_001035005		54	91	0	0	0	1	0	54	91				
IFIT1	3434	broad.mit.edu	37	10	91163009	91163009	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91163009T>C	ENST00000371804.3	+	2	1144	c.977T>C	c.(976-978)aTa>aCa	p.I326T	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.I295T	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	326					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AGATCAGCCATATTTCATTTT	0.418																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(883-885)aTa>aCa		interferon-induced protein with tetratricopeptide repeats 1							44.0	44.0	44.0					10																	91163009		2203	4299	6502	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91163009T>C	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.977T>C	10.37:g.91163009T>C	ENSP00000360869:p.Ile326Thr					IFIT1_ENST00000371804.3_Missense_Mutation_p.I326T|LIPA_ENST00000371837.1_Intron	p.I295T	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	2171	+			326					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.884T>C	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132971	0.56828	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.76186	-1.0;-1.0	5.62	4.47	0.54385	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.051327	0.64402	D	0.000001	T	0.67373	0.2886	L	0.52759	1.655	0.31255	N	0.693568	B;B	0.27498	0.18;0.18	B;B	0.23150	0.044;0.044	T	0.69450	-0.5142	10	0.56958	D	0.05	.	11.5863	0.50920	0.1337:0.0:0.0:0.8663	.	326;326	Q5T7J1;P09914	.;IFIT1_HUMAN	T	326;295	ENSP00000360869:I326T;ENSP00000441968:I295T	ENSP00000360869:I326T	I	+	2	0	IFIT1	91152989	0.264000	0.24093	0.016000	0.15963	0.606000	0.37113	2.071000	0.41500	1.036000	0.39998	0.528000	0.53228	ATA		0.418	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		8	39	0	0	0	1	0	8	39				
MICAL1	64780	broad.mit.edu	37	6	109775385	109775385	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109775385G>T	ENST00000358807.3	-	2	326	c.15C>A	c.(13-15)acC>acA	p.T5T	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Silent_p.T24T|MICAL1_ENST00000358577.3_Silent_p.T5T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	5	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGTTGGTGGAGGTAGGTGAAG	0.627																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(70-72)acC>acA		microtubule associated monooxygenase, calponin and LIM domain containing 1							18.0	15.0	16.0					6																	109775385		2195	4296	6491	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109775385G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.15C>A	6.37:g.109775385G>T						MICAL1_ENST00000358807.3_Silent_p.T5T|MICAL1_ENST00000358577.3_Silent_p.T5T	p.T24T			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	2	362	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	5					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.72C>A	CCDS5076.1																																																																																				0.627	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		4	6	1	0	2.56e-06	1	2.9446e-06	4	6				
CLDN4	1364	broad.mit.edu	37	7	73245993	73245993	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73245993C>T	ENST00000435050.1	+	2	3142	c.462C>T	c.(460-462)tcC>tcT	p.S154S	CLDN4_ENST00000340958.2_Silent_p.S154S|CLDN4_ENST00000431918.1_Silent_p.S154S			O14493	CLD4_HUMAN	claudin 4	154					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGGTGGCCTCCGGGCAGAAGC	0.657																																						ENST00000435050.1																			0				kidney(2)|lung(4)|urinary_tract(1)	7						c.(460-462)tcC>tcT		claudin 4							61.0	62.0	61.0					7																	73245993		2203	4300	6503	SO:0001819	synonymous_variant	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73245993C>T	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.462C>T	7.37:g.73245993C>T						CLDN4_ENST00000431918.1_Silent_p.S154S|CLDN4_ENST00000340958.2_Silent_p.S154S	p.S154S			O14493	CLD4_HUMAN			2	3142	+		Lung NSC(55;0.159)	154						Silent	SNP	ENST00000435050.1	37	c.462C>T	CCDS5560.1																																																																																				0.657	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		32	21	0	0	0	1	0	32	21				
CST7	8530	broad.mit.edu	37	20	24939633	24939633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24939633C>A	ENST00000480798.1	+	3	589	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	CST7_ENST00000376835.2_Missense_Mutation_p.L127M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	105					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						AAACCAGCACCTGCGTCTGGA	0.527																																						ENST00000480798.1																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(313-315)Ctg>Atg		cystatin F (leukocystatin)							142.0	134.0	137.0					20																	24939633		2203	4300	6503	SO:0001583	missense	8530				immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:24939633C>A	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.313C>A	20.37:g.24939633C>A	ENSP00000420384:p.Leu105Met					CST7_ENST00000376835.2_Missense_Mutation_p.L127M	p.L105M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN			3	589	+			105					Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	c.313C>A	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	C	3.331	-0.136627	0.06711	.	.	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.26223	1.75;1.75	5.71	-3.16	0.05217	Proteinase inhibitor I25, cystatin (2);	1.037410	0.07518	N	0.910090	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B	0.27380	0.177	B	0.17098	0.017	T	0.26360	-1.0105	10	0.44086	T	0.13	-24.1278	1.4801	0.02435	0.1273:0.1984:0.2802:0.3941	.	105	O76096	CYTF_HUMAN	M	105;127	ENSP00000420384:L105M;ENSP00000366031:L127M	ENSP00000366031:L127M	L	+	1	2	CST7	24887633	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.378000	0.07446	-0.131000	0.11578	0.462000	0.41574	CTG		0.527	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		28	44	1	0	7.26314e-15	1	9.28782e-15	28	44				
PLRG1	5356	broad.mit.edu	37	4	155468979	155468979	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155468979A>C	ENST00000499023.2	-	3	269	c.143T>G	c.(142-144)cTt>cGt	p.L48R	PLRG1_ENST00000393905.2_Missense_Mutation_p.L48R|PLRG1_ENST00000302078.5_Missense_Mutation_p.L48R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	48					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTCATTACGAAGCTTGATTGC	0.333																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(142-144)cTt>cGt		pleiotropic regulator 1							91.0	86.0	88.0					4																	155468979		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155468979A>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.143T>G	4.37:g.155468979A>C	ENSP00000424417:p.Leu48Arg					PLRG1_ENST00000393905.2_Missense_Mutation_p.L48R|PLRG1_ENST00000302078.5_Missense_Mutation_p.L48R	p.L48R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			3	269	-	all_hematologic(180;0.215)	Renal(120;0.0854)	48					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.143T>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551674	0.65311	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.62498	0.03;0.02;0.04	5.96	4.76	0.60689	.	0.198580	0.45126	N	0.000388	T	0.49745	0.1575	L	0.33485	1.01	0.53688	D	0.999971	P;B	0.48503	0.911;0.04	B;B	0.42282	0.382;0.022	T	0.39941	-0.9589	10	0.13470	T	0.59	-9.1739	13.2978	0.60307	0.8679:0.1321:0.0:0.0	.	48;48	O43660-2;O43660	.;PLRG1_HUMAN	R	48;48;48;46	ENSP00000424417:L48R;ENSP00000377483:L48R;ENSP00000303191:L48R	ENSP00000303191:L48R	L	-	2	0	PLRG1	155688429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.434000	0.73408	1.045000	0.40225	0.533000	0.62120	CTT		0.333	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		7	53	0	0	0	1	0	7	53				
SLC6A3	6531	broad.mit.edu	37	5	1403055	1403055	+	Silent	SNP	C	C	T	rs368756352		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1403055C>T	ENST00000270349.9	-	13	1876	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	SLC6A3_ENST00000453492.2_Silent_p.L583L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	583	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGGACCCAGGCAGGCTGCAGA	0.632																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1747-1749)ctG>ctA		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						61.0	56.0	58.0					5																	1403055		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403055C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1749G>A	5.37:g.1403055C>T						SLC6A3_ENST00000453492.2_Silent_p.L583L	p.L583L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1876	-			583			Interaction with TGFB1I1.		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.1749G>A	CCDS3863.1																																																																																				0.632	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		7	20	0	0	0	1	0	7	20				
CLDN8	9073	broad.mit.edu	37	21	31588194	31588194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31588194C>T	ENST00000399899.1	-	1	197	c.50G>A	c.(49-51)gGa>gAa	p.G17E	CLDN8_ENST00000286809.1_Missense_Mutation_p.G17E	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	17					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCCCACCATTCCAACACCACC	0.502																																						ENST00000399899.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						c.(49-51)gGa>gAa		claudin 8							85.0	78.0	80.0					21																	31588194		2203	4300	6503	SO:0001583	missense	9073				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31588194C>T	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.50G>A	21.37:g.31588194C>T	ENSP00000382783:p.Gly17Glu					CLDN8_ENST00000286809.1_Missense_Mutation_p.G17E	p.G17E	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN			1	197	-			17					D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	c.50G>A	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725495	0.89298	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.89617	-2.54;-2.54	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.96778	0.8948	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97762	1.0221	10	0.87932	D	0	.	18.8386	0.92172	0.0:1.0:0.0:0.0	.	17	P56748	CLD8_HUMAN	E	17	ENSP00000382783:G17E;ENSP00000286809:G17E	ENSP00000286809:G17E	G	-	2	0	CLDN8	30510065	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.490000	0.81461	2.850000	0.98022	0.650000	0.86243	GGA		0.502	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		13	42	0	0	0	1	0	13	42				
VWA8	23078	broad.mit.edu	37	13	42393508	42393508	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42393508A>T	ENST00000379310.3	-	15	1783	c.1715T>A	c.(1714-1716)aTc>aAc	p.I572N	VWA8_ENST00000281496.6_Missense_Mutation_p.I572N	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	572						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GGAGGGATGGATAGGAAAAAT	0.378																																						ENST00000379310.3																			0											c.(1714-1716)aTc>aAc		von Willebrand factor A domain containing 8							55.0	59.0	57.0					13																	42393508		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42393508A>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1715T>A	13.37:g.42393508A>T	ENSP00000368612:p.Ile572Asn					VWA8_ENST00000281496.6_Missense_Mutation_p.I572N	p.I572N	NM_015058.1	NP_055873.1					15	1783	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1715T>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508690	0.64410	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.39997	1.05;1.05	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.052130	0.85682	D	0.000000	T	0.69851	0.3157	M	0.88704	2.975	0.80722	D	1	D	0.55385	0.971	D	0.70487	0.969	T	0.76487	-0.2941	10	0.87932	D	0	.	15.5863	0.76485	1.0:0.0:0.0:0.0	.	572	A3KMH1	K0564_HUMAN	N	476;572;572	ENSP00000368612:I572N;ENSP00000281496:I572N	ENSP00000251030:I476N	I	-	2	0	KIAA0564	41291508	1.000000	0.71417	0.997000	0.53966	0.517000	0.34286	7.839000	0.86812	2.225000	0.72522	0.533000	0.62120	ATC		0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		6	39	0	0	0	1	0	6	39				
NAA25	80018	broad.mit.edu	37	12	112506731	112506731	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112506731C>A	ENST00000261745.4	-	11	1350	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	368						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCTTAAGGTCTGTAAAACAA	0.373																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1102-1104)Gac>Tac		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							115.0	116.0	116.0					12																	112506731		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112506731C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1102G>T	12.37:g.112506731C>A	ENSP00000261745:p.Asp368Tyr						p.D368Y	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			11	1350	-			368					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.1102G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869058	0.91587	.	.	ENSG00000111300	ENST00000261745	T	0.77098	-1.07	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90987	0.4832	10	0.87932	D	0	-14.4463	19.4226	0.94727	0.0:1.0:0.0:0.0	.	368;368	A8K8X0;Q14CX7	.;NAA25_HUMAN	Y	368	ENSP00000261745:D368Y	ENSP00000261745:D368Y	D	-	1	0	NAA25	110991114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.174000	0.77620	2.593000	0.87608	0.655000	0.94253	GAC		0.373	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		6	66	1	0	0.00198382	1	0.00210581	6	66				
C15orf39	56905	broad.mit.edu	37	15	75498424	75498424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498424C>A	ENST00000360639.2	+	2	355	c.35C>A	c.(34-36)cCt>cAt	p.P12H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P12H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P12H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	12						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCCTGGGGCCTGTGATGTAT	0.602																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(34-36)cCt>cAt		chromosome 15 open reading frame 39							47.0	36.0	40.0					15																	75498424		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75498424C>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.35C>A	15.37:g.75498424C>A	ENSP00000353854:p.Pro12His					C15orf39_ENST00000394987.4_Missense_Mutation_p.P12H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P12H	p.P12H			Q6ZRI6	CO039_HUMAN			2	355	+			12					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.35C>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669746	0.29693	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.70045	-0.45;-0.45	4.73	4.73	0.59995	.	0.000000	0.48286	D	0.000192	T	0.78502	0.4293	L	0.60455	1.87	0.41136	D	0.985922	D	0.89917	1.0	D	0.91635	0.999	T	0.81313	-0.0989	10	0.87932	D	0	-10.1292	14.4646	0.67475	0.0:1.0:0.0:0.0	.	12	Q6ZRI6	CO039_HUMAN	H	12	ENSP00000353854:P12H;ENSP00000378438:P12H	ENSP00000353854:P12H	P	+	2	0	C15orf39	73285477	0.997000	0.39634	0.996000	0.52242	0.961000	0.63080	4.700000	0.61803	2.180000	0.69256	0.561000	0.74099	CCT		0.602	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		3	11	1	0	0.115264	1	0.117355	3	11				
NUPL2	11097	broad.mit.edu	37	7	23240207	23240207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23240207C>A	ENST00000258742.5	+	7	1374	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	372	Interaction with GLE1.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATCCACTTCTCTGTCAGCC	0.428																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1114-1116)tCt>tAt		nucleoporin like 2							146.0	140.0	142.0					7																	23240207		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23240207C>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1115C>A	7.37:g.23240207C>A	ENSP00000258742:p.Ser372Tyr						p.S372Y	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			7	1374	+			372			Interaction with GLE1.|Ser-rich.		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.1115C>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616459	0.46736	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.37058	1.28;1.22	5.82	5.82	0.92795	.	0.371433	0.30901	N	0.008655	T	0.55273	0.1910	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	P	0.61592	0.891	T	0.51403	-0.8710	10	0.54805	T	0.06	-14.6333	19.6978	0.96034	0.0:1.0:0.0:0.0	.	372	O15504	NUPL2_HUMAN	Y	372;397	ENSP00000258742:S372Y;ENSP00000401475:S397Y	ENSP00000258742:S372Y	S	+	2	0	NUPL2	23206732	0.262000	0.24073	0.254000	0.24359	0.074000	0.17049	5.632000	0.67819	2.756000	0.94617	0.655000	0.94253	TCT		0.428	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		12	242	1	0	9.31168e-06	1	1.06029e-05	12	242				
ZNF275	10838	broad.mit.edu	37	X	152610162	152610162	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152610162C>A	ENST00000421401.3	+	3	208				ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000440091.1_Missense_Mutation_p.L15I|ZNF275_ENST00000370251.3_Intron			Q9NSD4	ZN275_HUMAN	zinc finger protein 275						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGGTACCTCACCACAAG	0.502																																						ENST00000440091.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(43-45)Ctc>Atc		zinc finger protein 275							168.0	166.0	167.0					X																	152610162		1984	4157	6141	SO:0001627	intron_variant	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152610162C>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.32-816C>A	X.37:g.152610162C>A						ZNF275_ENST00000421401.3_Intron|ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000370249.2_5'UTR	p.L15I			A6NFS0	A6NFS0_HUMAN			2	43	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.43C>A		.	.	.	.	.	.	.	.	.	.	C	14.15	2.449997	0.43531	.	.	ENSG00000063587	ENST00000440091	T	0.01933	4.55	5.21	3.41	0.39046	.	0.256396	0.21490	N	0.073691	T	0.03178	0.0093	.	.	.	0.21445	N	0.999687	.	.	.	.	.	.	T	0.38045	-0.9679	7	0.72032	D	0.01	-32.37	4.0003	0.09577	0.1901:0.6142:0.0:0.1957	.	.	.	.	I	15	ENSP00000411097:L15I	ENSP00000411097:L15I	L	+	1	0	ZNF275	152263356	0.002000	0.14202	0.237000	0.24090	0.568000	0.35870	0.025000	0.13577	0.656000	0.30886	0.600000	0.82982	CTC		0.502	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		7	137	1	0	0.0381472	1	0.0390147	7	137				
UGT2A1	10941	broad.mit.edu	37	4	70512749	70512749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512749G>T	ENST00000503640.1	-	1	669	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	UGT2A1_ENST00000514019.1_Missense_Mutation_p.S205Y|UGT2A1_ENST00000286604.4_Missense_Mutation_p.S205Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S205Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	205					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTCAGTGAAAGACATTTGGTC	0.408																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(613-615)tCt>tAt		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							87.0	78.0	81.0					4																	70512749		2203	4299	6502	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70512749G>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.614C>A	4.37:g.70512749G>T	ENSP00000424478:p.Ser205Tyr					UGT2A1_ENST00000286604.4_Missense_Mutation_p.S205Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S205Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S205Y	p.S205Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			1	669	-			205					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.614C>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074798	0.55646	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T	0.64803	0.24;-0.12;0.24;0.24	5.78	4.93	0.64822	.	0.400652	0.28431	N	0.015367	T	0.74688	0.3749	L	0.59436	1.845	.	.	.	D;P;P;P	0.69078	0.997;0.939;0.773;0.896	D;P;P;P	0.67103	0.949;0.694;0.58;0.678	T	0.80935	-0.1160	9	0.87932	D	0	.	14.6094	0.68504	0.0:0.1468:0.8532:0.0	.	205;205;205;205	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	Y	205	ENSP00000424478:S205Y;ENSP00000421432:S205Y;ENSP00000425497:S205Y;ENSP00000286604:S205Y	ENSP00000286604:S205Y	S	-	2	0	UGT2A1	70547338	1.000000	0.71417	0.989000	0.46669	0.782000	0.44232	2.904000	0.48719	1.428000	0.47296	0.591000	0.81541	TCT		0.408	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		7	64	1	0	5.18039e-06	1	5.91835e-06	7	64				
NACA	4666	broad.mit.edu	37	12	57112225	57112225	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57112225T>C	ENST00000454682.1	-	3	3370	c.3089A>G	c.(3088-3090)aAa>aGa	p.K1030R	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1030	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGATGCCCCTTTGGGGAATGG	0.637			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3088-3090)aAa>aGa		nascent polypeptide-associated complex alpha subunit							32.0	38.0	37.0					12																	57112225		1559	3563	5122	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112225T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3089A>G	12.37:g.57112225T>C	ENSP00000403817:p.Lys1030Arg					NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	p.K1030R	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3370	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3089A>G		.	.	.	.	.	.	.	.	.	.	t	6.341	0.430954	0.12045	.	.	ENSG00000196531	ENST00000454682	T	0.51574	0.7	2.98	0.429	0.16506	.	.	.	.	.	T	0.22551	0.0544	.	.	.	0.09310	N	1	B	0.30281	0.275	B	0.20767	0.031	T	0.12863	-1.0531	7	.	.	.	.	0.5256	0.00620	0.3512:0.1152:0.1794:0.3542	.	1030	E9PAV3	.	R	1030	ENSP00000403817:K1030R	.	K	-	2	0	NACA	55398492	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.271000	0.18626	-0.089000	0.12484	0.102000	0.15555	AAA		0.637	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	45	0	0	0	1	0	4	45				
EP300	2033	broad.mit.edu	37	22	41574836	41574836	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574836C>A	ENST00000263253.7	+	31	8340	c.7121C>A	c.(7120-7122)tCt>tAt	p.S2374Y	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2374					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.S2374Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAATGCTTTCTCAGCTTGCT	0.547			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		1	Substitution - Missense(1)	p.S2374Y(1)	large_intestine(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(7120-7122)tCt>tAt		E1A binding protein p300							50.0	52.0	51.0					22																	41574836		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574836C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.7121C>A	22.37:g.41574836C>A	ENSP00000263253:p.Ser2374Tyr					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.S2374Y	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8340	+			2374					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.7121C>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900466	0.52227	.	.	ENSG00000100393	ENST00000263253	D	0.86366	-2.11	5.65	5.65	0.86999	.	0.000000	0.45867	D	0.000322	D	0.89815	0.6824	L	0.46157	1.445	0.52099	D	0.999947	D	0.61697	0.99	P	0.54664	0.758	D	0.90516	0.4485	10	0.87932	D	0	-10.4503	19.717	0.96124	0.0:1.0:0.0:0.0	.	2374	Q09472	EP300_HUMAN	Y	2374	ENSP00000263253:S2374Y	ENSP00000263253:S2374Y	S	+	2	0	EP300	39904782	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.944000	0.70219	2.661000	0.90470	0.655000	0.94253	TCT		0.547	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		19	17	1	0	2.35188e-11	1	2.93101e-11	19	17				
PDZD7	79955	broad.mit.edu	37	10	102783729	102783729	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102783729C>A	ENST00000370215.3	-	3	548	c.323G>T	c.(322-324)gGc>gTc	p.G108V	PDZD7_ENST00000470414.1_Missense_Mutation_p.G108V	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	108	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GATGCCCAGGCCATGCTCTGA	0.577																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(322-324)gGc>gTc		PDZ domain containing 7							108.0	103.0	104.0					10																	102783729		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102783729C>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.323G>T	10.37:g.102783729C>A	ENSP00000359234:p.Gly108Val					PDZD7_ENST00000470414.1_Missense_Mutation_p.G108V	p.G108V	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	3	548	-			108			PDZ 1.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.323G>T	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940036	0.92526	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.18960	2.18	4.96	4.96	0.65561	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	L	0.46614	1.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.33033	-0.9884	10	0.87932	D	0	.	18.5634	0.91108	0.0:1.0:0.0:0.0	.	108;108	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	V	108	ENSP00000359234:G108V	ENSP00000359234:G108V	G	-	2	0	PDZD7	102773719	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.644000	0.83416	2.442000	0.82660	0.491000	0.48974	GGC		0.577	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		30	36	1	0	1.21669e-08	1	1.46242e-08	30	36				
CTGF	1490	broad.mit.edu	37	6	132270531	132270531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132270531G>T	ENST00000367976.3	-	5	1123	c.923C>A	c.(922-924)cCt>cAt	p.P308H	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	308	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCGCCGTCAGGGCACTTGAA	0.522																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(922-924)cCt>cAt		connective tissue growth factor							150.0	141.0	144.0					6																	132270531		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270531G>T	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.923C>A	6.37:g.132270531G>T	ENSP00000356954:p.Pro308His						p.P308H	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1123	-	Breast(56;0.0602)		308			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.923C>A	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816670	0.70912	.	.	ENSG00000118523	ENST00000367976	T	0.16597	2.33	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41980	-0.9478	10	0.87932	D	0	.	19.8696	0.96845	0.0:0.0:1.0:0.0	.	308	P29279	CTGF_HUMAN	H	308	ENSP00000356954:P308H	ENSP00000356954:P308H	P	-	2	0	CTGF	132312224	1.000000	0.71417	0.956000	0.39512	0.980000	0.70556	9.813000	0.99286	2.773000	0.95371	0.585000	0.79938	CCT		0.522	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		14	117	1	0	4.36969e-10	1	5.35656e-10	14	117				
IFT74	80173	broad.mit.edu	37	9	26984505	26984505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26984505C>T	ENST00000443698.1	+	6	584	c.413C>T	c.(412-414)aCt>aTt	p.T138I	IFT74_ENST00000429045.2_Missense_Mutation_p.T138I|IFT74_ENST00000433700.1_Missense_Mutation_p.T138I|IFT74_ENST00000380062.5_Missense_Mutation_p.T138I	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	138					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGGGCTGAGACTTTAGCTGTT	0.274																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(412-414)aCt>aTt		intraflagellar transport 74 homolog (Chlamydomonas)							107.0	105.0	106.0					9																	26984505		1794	4070	5864	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26984505C>T	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.413C>T	9.37:g.26984505C>T	ENSP00000404122:p.Thr138Ile					IFT74_ENST00000429045.2_Missense_Mutation_p.T138I|IFT74_ENST00000380062.5_Missense_Mutation_p.T138I|IFT74_ENST00000433700.1_Missense_Mutation_p.T138I	p.T138I	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	6	584	+		all_neural(11;2.36e-10)	138					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.413C>T	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948379	0.34377	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	T;T;T;T;T;T	0.44083	1.49;1.49;1.49;1.49;1.49;0.93	5.81	4.91	0.64330	.	0.365001	0.34879	N	0.003610	T	0.23451	0.0567	N	0.04959	-0.14	0.34361	D	0.690986	B;B	0.25719	0.051;0.132	B;B	0.19391	0.025;0.016	T	0.26292	-1.0107	10	0.39692	T	0.17	-14.597	14.3063	0.66386	0.0:0.9291:0.0:0.0709	.	138;138	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	I	138;138;138;138;138;138;100	ENSP00000430004:T138I;ENSP00000389224:T138I;ENSP00000404122:T138I;ENSP00000369402:T138I;ENSP00000393907:T138I;ENSP00000430742:T100I	ENSP00000369402:T138I	T	+	2	0	IFT74	26974505	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.772000	0.38552	2.761000	0.94854	0.585000	0.79938	ACT		0.274	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		9	104	0	0	0	1	0	9	104				
ANKRD11	29123	broad.mit.edu	37	16	89354940	89354940	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89354940T>C	ENST00000301030.4	-	7	1200	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y247C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	247					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAACCTTGTAGTGCCCGTT	0.592																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(739-741)tAc>tGc		ankyrin repeat domain 11							171.0	103.0	126.0					16																	89354940		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89354940T>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.740A>G	16.37:g.89354940T>C	ENSP00000301030:p.Tyr247Cys					ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y247C	p.Y247C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	7	1200	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	247					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.740A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887931	0.72410	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.65178	-0.14;-0.14	5.38	5.38	0.77491	Ankyrin repeat-containing domain (3);	0.063724	0.64402	D	0.000008	T	0.65883	0.2734	L	0.28504	0.86	0.80722	D	1	D;P;D	0.76494	0.998;0.954;0.999	D;P;D	0.75020	0.915;0.579;0.985	T	0.65467	-0.6161	10	0.39692	T	0.17	.	9.8002	0.40759	0.257:0.0:0.0:0.743	.	247;261;247	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	C	247;247;261	ENSP00000301030:Y247C;ENSP00000367581:Y247C	ENSP00000301030:Y247C	Y	-	2	0	ANKRD11	87882441	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.114000	0.50383	2.036000	0.60181	0.460000	0.39030	TAC		0.592	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		17	26	0	0	0	1	0	17	26				
TNRC6B	23112	broad.mit.edu	37	22	40661037	40661037	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40661037T>C	ENST00000454349.2	+	5	1014	c.803T>C	c.(802-804)gTt>gCt	p.V268A	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.V268A|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	268	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GCTAAATCTGTTCAATCTTCC	0.458																																						ENST00000454349.2																			0				breast(1)	1						c.(802-804)gTt>gCt		trinucleotide repeat containing 6B							109.0	105.0	106.0					22																	40661037		1897	4126	6023	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661037T>C	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.803T>C	22.37:g.40661037T>C	ENSP00000401946:p.Val268Ala					TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.V268A	p.V268A	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1014	+			268					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.803T>C	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.370|0.370	-0.934782|-0.934782	0.02340|0.02340	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.53423	.|0.62;0.62	4.93|4.93	3.9|3.9	0.45041|0.45041	.|.	.|0.466924	.|0.22559	.|N	.|0.058481	T|T	0.34483|0.34483	0.0899|0.0899	L|L	0.49778|0.49778	1.585|1.585	0.27900|0.27900	N|N	0.939002|0.939002	.|B;B;B	.|0.27732	.|0.001;0.118;0.187	.|B;B;B	.|0.21360	.|0.001;0.01;0.034	T|T	0.26985|0.26985	-1.0087|-1.0087	5|10	.|0.06757	.|T	.|0.87	-0.099|-0.099	9.5708|9.5708	0.39427|0.39427	0.0:0.083:0.0:0.917|0.0:0.083:0.0:0.917	.|.	.|268;268;268	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	L|A	11|268	.|ENSP00000401946:V268A;ENSP00000338371:V268A	.|ENSP00000338371:V268A	F|V	+|+	1|2	0|0	TNRC6B|TNRC6B	38990983|38990983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.944000|0.944000	0.29043|0.29043	0.744000|0.744000	0.32741|0.32741	0.528000|0.528000	0.53228|0.53228	TTC|GTT		0.458	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	55	0	0	0	1	0	9	55				
AHNAK	79026	broad.mit.edu	37	11	62292718	62292718	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292718C>A	ENST00000378024.4	-	5	9445	c.9171G>T	c.(9169-9171)aaG>aaT	p.K3057N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3057					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAATGTCCACCTTGGGTCCTG	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9169-9171)aaG>aaT		AHNAK nucleoprotein							136.0	146.0	142.0					11																	62292718		2202	4294	6496	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292718C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9171G>T	11.37:g.62292718C>A	ENSP00000367263:p.Lys3057Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K3057N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9445	-		Melanoma(852;0.155)	3057					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9171G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	9.072	0.997093	0.19043	.	.	ENSG00000124942	ENST00000378024	T	0.01745	4.66	4.46	-7.29	0.01451	.	.	.	.	.	T	0.06554	0.0168	M	0.81341	2.54	0.20196	N	0.999927	D	0.64830	0.994	D	0.63957	0.92	T	0.00005	-1.2528	9	0.39692	T	0.17	.	9.8675	0.41152	0.1514:0.6963:0.0:0.1523	.	3057	Q09666	AHNK_HUMAN	N	3057	ENSP00000367263:K3057N	ENSP00000367263:K3057N	K	-	3	2	AHNAK	62049294	0.000000	0.05858	0.351000	0.25721	0.226000	0.24999	-5.188000	0.00143	-2.019000	0.00942	-1.902000	0.00527	AAG		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	197	1	0	6.72482e-11	1	8.32712e-11	14	197				
DYNC1H1	1778	broad.mit.edu	37	14	102478325	102478325	+	Silent	SNP	C	C	T	rs572885000		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102478325C>T	ENST00000360184.4	+	33	6896	c.6732C>T	c.(6730-6732)ctC>ctT	p.L2244L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2244	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGAGAGACTCGAGGGTGTGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18229	0.0		0.0	False		,,,				2504	0.001					ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(6730-6732)ctC>ctT		dynein, cytoplasmic 1, heavy chain 1							130.0	97.0	108.0					14																	102478325		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102478325C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6732C>T	14.37:g.102478325C>T							p.L2244L	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			33	6896	+			2244			AAA 2 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.6732C>T	CCDS9966.1																																																																																				0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		13	19	0	0	0	1	0	13	19				
MCHR1	2847	broad.mit.edu	37	22	41077581	41077581	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077581C>A	ENST00000249016.4	+	2	1614	c.918C>A	c.(916-918)tcC>tcA	p.S306S	MCHR1_ENST00000381433.2_Silent_p.S180S|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	306					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCATGACGTCCTCAGTGGCCC	0.602																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(916-918)tcC>tcA		melanin-concentrating hormone receptor 1							104.0	78.0	87.0					22																	41077581		2203	4300	6503	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077581C>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.918C>A	22.37:g.41077581C>A						MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.S180S	p.S306S	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1614	+			306					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.918C>A	CCDS14004.1																																																																																				0.602	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		20	33	1	0	5.26018e-13	1	6.65277e-13	20	33				
DNAH11	8701	broad.mit.edu	37	7	21599273	21599273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21599273G>A	ENST00000409508.3	+	4	776	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E249K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	249	Stem. {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						TGTGGTTATTGAATGGTCACA	0.338									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.(745-747)Gaa>Aaa		dynein, axonemal, heavy chain 11							82.0	80.0	81.0					7																	21599273		1852	4079	5931	SO:0001583	missense	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.chr7:21599273G>A	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.745G>A	7.37:g.21599273G>A	ENSP00000475939:p.Glu249Lys					DNAH11_ENST00000409508.3_Missense_Mutation_p.E249K	p.E249K			Q96DT5	DYH11_HUMAN			4	776	+			249			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.745G>A		.	.	.	.	.	.	.	.	.	.	G	3.284	-0.146467	0.06627	.	.	ENSG00000105877	ENST00000328843	T	0.53857	0.6	5.84	3.27	0.37495	Dynein heavy chain, domain-1 (1);	0.525116	0.21341	N	0.076135	T	0.19604	0.0471	N	0.01742	-0.745	0.24546	N	0.994043	B	0.02656	0.0	B	0.04013	0.001	T	0.30621	-0.9972	10	0.02654	T	1	.	7.7912	0.29121	0.7869:0.1391:0.074:0.0	.	249	Q96DT5	DYH11_HUMAN	K	249	ENSP00000330671:E249K	ENSP00000330671:E249K	E	+	1	0	DNAH11	21565798	0.792000	0.28813	0.996000	0.52242	0.722000	0.41435	1.862000	0.39448	0.436000	0.26393	-0.440000	0.05779	GAA		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	24	0	0	0	1	0	3	24				
XPO6	23214	broad.mit.edu	37	16	28117818	28117818	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28117818T>A	ENST00000304658.5	-	19	2998	c.2498A>T	c.(2497-2499)gAt>gTt	p.D833V	XPO6_ENST00000565698.1_Splice_Site_p.D819V	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	833					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ATCAGTCACATCTGAGGAAAG	0.483																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.e19-1		exportin 6							104.0	102.0	103.0					16																	28117818		2027	4186	6213	SO:0001630	splice_region_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28117818T>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2498-1A>T	16.37:g.28117818T>A						XPO6_ENST00000565698.1_Splice_Site_p.D819_splice	p.D833_splice	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			19	2998	-			833					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Splice_Site	SNP	ENST00000304658.5	37	c.2497_splice	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336590	0.81801	.	.	ENSG00000169180	ENST00000304658	T	0.47528	0.84	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.146624	0.64402	D	0.000010	T	0.58764	0.2145	L	0.46157	1.445	0.80722	D	1	P;D	0.76494	0.518;0.999	B;P	0.62435	0.164;0.902	T	0.56631	-0.7947	10	0.39692	T	0.17	.	14.389	0.66965	0.0:0.0:0.0:1.0	.	833;833	B7ZM10;Q96QU8	.;XPO6_HUMAN	V	833	ENSP00000302790:D833V	ENSP00000302790:D833V	D	-	2	0	XPO6	28025319	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.036000	0.88901	2.278000	0.76064	0.533000	0.62120	GAT		0.483	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	Missense_Mutation	8	61	0	0	0	1	0	8	61				
GIT1	28964	broad.mit.edu	37	17	27903334	27903334	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27903334C>A	ENST00000225394.3	-	14	1763	c.1515G>T	c.(1513-1515)caG>caT	p.Q505H	GIT1_ENST00000581348.1_Missense_Mutation_p.Q514H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.Q505H|GIT1_ENST00000394869.3_Missense_Mutation_p.Q514H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	505					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGAAAAGGCCTGGCGATCCC	0.667																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1513-1515)caG>caT		G protein-coupled receptor kinase interacting ArfGAP 1							63.0	72.0	69.0					17																	27903334		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903334C>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1515G>T	17.37:g.27903334C>A	ENSP00000225394:p.Gln505His					GIT1_ENST00000579937.1_Missense_Mutation_p.Q505H|GIT1_ENST00000394869.3_Missense_Mutation_p.Q514H|GIT1_ENST00000581348.1_Missense_Mutation_p.Q514H|RP11-68I3.2_ENST00000581474.1_RNA	p.Q505H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1763	-			505					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.1515G>T	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726362	0.48833	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.71341	-0.5;-0.56	4.67	4.67	0.58626	.	0.132861	0.53938	D	0.000046	T	0.63896	0.2550	L	0.44542	1.39	0.58432	D	0.999991	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.11329	0.006;0.005;0.002;0.006	T	0.61955	-0.6956	10	0.49607	T	0.09	.	14.6277	0.68635	0.0:0.8539:0.1461:0.0	.	518;514;514;505	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	505;514	ENSP00000225394:Q505H;ENSP00000378338:Q514H	ENSP00000225394:Q505H	Q	-	3	2	GIT1	24927460	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.789000	0.47813	2.588000	0.87417	0.448000	0.29417	CAG		0.667	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		8	118	1	0	0.0381472	1	0.0390147	8	118				
OR10A6	390093	broad.mit.edu	37	11	7949989	7949989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7949989C>A	ENST00000309838.2	-	1	220	c.221G>T	c.(220-222)aGt>aTt	p.S74I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATAACTGCACTGAAACTCAG	0.428																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(220-222)aGt>aTt		olfactory receptor, family 10, subfamily A, member 6							115.0	111.0	113.0					11																	7949989		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949989C>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.221G>T	11.37:g.7949989C>A	ENSP00000312470:p.Ser74Ile						p.S74I	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	220	-			74					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.221G>T	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	9.604	1.129450	0.21041	.	.	ENSG00000175393	ENST00000309838	T	0.00840	5.63	4.14	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.125545	0.35466	N	0.003190	T	0.02767	0.0083	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.36625	-0.9740	10	0.56958	D	0.05	.	9.9657	0.41723	0.0:0.6737:0.3263:0.0	.	74	Q8NH74	O10A6_HUMAN	I	74	ENSP00000312470:S74I	ENSP00000312470:S74I	S	-	2	0	OR10A6	7906565	0.000000	0.05858	0.995000	0.50966	0.372000	0.29890	-0.072000	0.11486	2.299000	0.77371	0.655000	0.94253	AGT		0.428	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		63	69	1	0	5.82218e-30	1	7.79564e-30	63	69				
P4HA1	5033	broad.mit.edu	37	10	74806697	74806697	+	Missense_Mutation	SNP	G	G	T	rs201204338		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74806697G>T	ENST00000307116.2	-	8	1179	c.1063C>A	c.(1063-1065)Cta>Ata	p.L355I	P4HA1_ENST00000412021.2_Missense_Mutation_p.L355I|P4HA1_ENST00000440381.1_Missense_Mutation_p.L355I|P4HA1_ENST00000263556.3_Missense_Mutation_p.L355I|P4HA1_ENST00000373008.2_Missense_Mutation_p.L355I|P4HA1_ENST00000394890.2_Missense_Mutation_p.L355I			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	355					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTTTGCTAGGTCTTTGACG	0.333																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1063-1065)Cta>Ata		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						105.0	105.0	105.0					10																	74806697		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74806697G>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1063C>A	10.37:g.74806697G>T	ENSP00000307318:p.Leu355Ile					P4HA1_ENST00000263556.3_Missense_Mutation_p.L355I|P4HA1_ENST00000440381.1_Missense_Mutation_p.L355I|P4HA1_ENST00000394890.2_Missense_Mutation_p.L355I|P4HA1_ENST00000373008.2_Missense_Mutation_p.L355I|P4HA1_ENST00000307116.2_Missense_Mutation_p.L355I	p.L355I	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			9	1396	-	Prostate(51;0.0198)		355					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1063C>A		.	.	.	.	.	.	.	.	.	.	G	12.65	2.001561	0.35320	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.54279	0.68;0.68;0.68;0.68;0.68;0.58	5.94	3.09	0.35607	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	L	0.46819	1.47	0.58432	D	0.999993	P;P;P	0.44195	0.517;0.828;0.494	B;B;B	0.40565	0.259;0.333;0.226	T	0.12863	-1.0531	10	0.28530	T	0.3	-9.0283	8.8851	0.35398	0.281:0.0:0.719:0.0	.	355;355;355	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	I	355	ENSP00000307318:L355I;ENSP00000362099:L355I;ENSP00000411688:L355I;ENSP00000378353:L355I;ENSP00000263556:L355I;ENSP00000414464:L355I	ENSP00000263556:L355I	L	-	1	2	P4HA1	74476703	0.995000	0.38212	0.999000	0.59377	0.998000	0.95712	2.153000	0.42282	0.407000	0.25591	0.650000	0.86243	CTA		0.333	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		22	63	1	0	1.55795e-14	1	1.98882e-14	22	63				
SSPO	23145	broad.mit.edu	37	7	149500075	149500075	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149500075C>T	ENST00000378016.2	+	0	7701							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGACCCTGCAGCGTCTCCT	0.672																																						ENST00000378016.2																			0													SCO-spondin							11.0	14.0	13.0					7																	149500075		2148	4256	6404			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500075C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500075C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7701	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	7	0	0	0	1	0	3	7				
CASQ1	844	broad.mit.edu	37	1	160162604	160162604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160162604G>A	ENST00000368078.3	+	2	488	c.292G>A	c.(292-294)Gtc>Atc	p.V98I	CASQ1_ENST00000368079.3_Missense_Mutation_p.V92I			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	98					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAGCCCAAGTCCTAGAAGA	0.498											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(274-276)Gtc>Atc		calsequestrin 1 (fast-twitch, skeletal muscle)							122.0	129.0	126.0					1																	160162604		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160162604G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.292G>A	1.37:g.160162604G>A	ENSP00000357057:p.Val98Ile		OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1806	CASQ1_ENST00000368078.3_Missense_Mutation_p.V98I	p.V92I	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	549	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		98					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.274G>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606300	0.46527	.	.	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.78003	-1.14;-1.14	4.68	4.68	0.58851	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.61703	1.905	0.58432	D	0.999998	B	0.31125	0.309	B	0.33690	0.168	T	0.65676	-0.6110	10	0.18276	T	0.48	.	16.5964	0.84797	0.0:0.0:1.0:0.0	.	98	P31415	CASQ1_HUMAN	I	92;98	ENSP00000357058:V92I;ENSP00000357057:V98I	ENSP00000357057:V98I	V	+	1	0	CASQ1	158429228	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.990000	0.93510	2.439000	0.82584	0.449000	0.29647	GTC		0.498	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		54	151	0	0	0	1	0	54	151				
MN1	4330	broad.mit.edu	37	22	28193974	28193974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193974G>A	ENST00000302326.4	-	1	3512	c.2558C>T	c.(2557-2559)cCg>cTg	p.P853L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCCTCTGGCGGGTTCTTCTT	0.647			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2557-2559)cCg>cTg		meningioma (disrupted in balanced translocation) 1							74.0	81.0	79.0					22																	28193974		1890	4096	5986	SO:0001583	missense	4330						binding	g.chr22:28193974G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2558C>T	22.37:g.28193974G>A	ENSP00000304956:p.Pro853Leu						p.P853L	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3512	-			853					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.2558C>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797968	0.31777	.	.	ENSG00000169184	ENST00000302326	T	0.45276	0.9	3.74	2.64	0.31445	.	0.078952	0.51477	D	0.000100	T	0.19967	0.0480	N	0.08118	0	0.43317	D	0.995336	P	0.46327	0.876	B	0.37304	0.246	T	0.09684	-1.0663	10	0.59425	D	0.04	-4.1604	10.1844	0.42988	0.0:0.0:0.7027:0.2973	.	853	Q10571	MN1_HUMAN	L	853	ENSP00000304956:P853L	ENSP00000304956:P853L	P	-	2	0	MN1	26523974	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.628000	0.54259	1.922000	0.55676	0.462000	0.41574	CCG		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		46	75	0	0	0	1	0	46	75				
ZNF532	55205	broad.mit.edu	37	18	56646333	56646333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56646333C>T	ENST00000336078.4	+	9	3973	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	ZNF532_ENST00000591808.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591083.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.S1066L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1066					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCTTTCAGCTCGTCCCACAGC	0.507																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(3196-3198)tCg>tTg		zinc finger protein 532							118.0	119.0	118.0					18																	56646333		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56646333C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3197C>T	18.37:g.56646333C>T	ENSP00000338217:p.Ser1066Leu					ZNF532_ENST00000591230.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591083.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000588956.1_3'UTR	p.S1066L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			9	3973	+			1066					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.3197C>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579878	0.96565	.	.	ENSG00000074657	ENST00000336078	T	0.15017	2.46	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.35487	1.065	0.80722	D	1	D;P	0.89917	1.0;0.953	D;P	0.76575	0.988;0.568	T	0.02617	-1.1133	10	0.19590	T	0.45	-0.0867	18.1872	0.89796	0.0:1.0:0.0:0.0	.	1066;1066	B3KXW2;Q9HCE3	.;ZN532_HUMAN	L	1066	ENSP00000338217:S1066L	ENSP00000338217:S1066L	S	+	2	0	ZNF532	54797313	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.786000	0.85741	2.393000	0.81446	0.557000	0.71058	TCG		0.507	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		37	83	0	0	0	1	0	37	83				
IPO7	10527	broad.mit.edu	37	11	9455173	9455173	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9455173G>A	ENST00000379719.3	+	17	2080	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	646					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTACAACAGCATGTCTTAG	0.343																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1936-1938)caG>caA		importin 7							117.0	107.0	111.0					11																	9455173		2201	4295	6496	SO:0001819	synonymous_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9455173G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1938G>A	11.37:g.9455173G>A							p.Q646Q	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	17	2080	+			646					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	c.1938G>A	CCDS31425.1																																																																																				0.343	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		3	54	0	0	0	1	0	3	54				
GOLGA3	2802	broad.mit.edu	37	12	133358902	133358902	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133358902G>T	ENST00000450791.2	-	16	3628	c.3445C>A	c.(3445-3447)Cta>Ata	p.L1149I	GOLGA3_ENST00000456883.2_Missense_Mutation_p.L1149I|GOLGA3_ENST00000204726.3_Missense_Mutation_p.L1149I			Q08378	GOGA3_HUMAN	golgin A3	1149					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AACTGGACTAGGTCTGCCTCC	0.552																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3445-3447)Cta>Ata		golgin A3							267.0	221.0	236.0					12																	133358902		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133358902G>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3445C>A	12.37:g.133358902G>T	ENSP00000410378:p.Leu1149Ile					GOLGA3_ENST00000450791.2_Missense_Mutation_p.L1149I|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L1149I	p.L1149I	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	17	4003	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1149					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3445C>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889748	0.72524	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.36157	1.27;1.27;1.28	6.0	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.24297	-1.0164	10	0.44086	T	0.13	.	6.7583	0.23526	0.3387:0.0:0.6613:0.0	.	1149;1149	Q08378-2;Q08378	.;GOGA3_HUMAN	I	1149	ENSP00000204726:L1149I;ENSP00000410378:L1149I;ENSP00000409303:L1149I	ENSP00000204726:L1149I	L	-	1	2	GOLGA3	131868975	1.000000	0.71417	0.985000	0.45067	0.890000	0.51754	3.952000	0.56691	1.554000	0.49487	0.655000	0.94253	CTA		0.552	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		5	131	1	0	0.0293803	1	0.0301098	5	131				
SLC35F4	341880	broad.mit.edu	37	14	58056155	58056155	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056155C>T	ENST00000339762.6	-	3	473	c.474G>A	c.(472-474)acG>acA	p.T158T	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Silent_p.T122T			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	158					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACCATGGACGTGCAGGACA	0.443																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(364-366)acG>acA		solute carrier family 35, member F4							62.0	65.0	64.0					14																	58056155		2021	4193	6214	SO:0001819	synonymous_variant	341880							g.chr14:58056155C>T			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.474G>A	14.37:g.58056155C>T						SLC35F4_ENST00000339762.6_Silent_p.T158T|SLC35F4_ENST00000554729.1_5'UTR	p.T122T	NM_001206920.1	NP_001193849.1					3	602	-								A6NDQ3	Silent	SNP	ENST00000339762.6	37	c.366G>A																																																																																					0.443	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		4	23	0	0	0	1	0	4	23				
SGCE	8910	broad.mit.edu	37	7	94229023	94229023	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94229023G>A	ENST00000265735.7	-	8	1160	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	SGCE_ENST00000445866.2_Silent_p.N350N|SGCE_ENST00000447873.1_Intron|SGCE_ENST00000437425.2_Silent_p.N309N|SGCE_ENST00000415788.2_Silent_p.N386N|SGCE_ENST00000428696.2_Intron	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	350					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTTTGCATGTTTCTCTTTT	0.348																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(1156-1158)aaC>aaT		sarcoglycan, epsilon							143.0	135.0	138.0					7																	94229023		2203	4300	6503	SO:0001819	synonymous_variant	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94229023G>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1050C>T	7.37:g.94229023G>A						SGCE_ENST00000445866.2_Silent_p.N350N|SGCE_ENST00000428696.2_Intron|SGCE_ENST00000265735.7_Silent_p.N350N|SGCE_ENST00000447873.1_Intron|SGCE_ENST00000437425.2_Silent_p.N309N	p.N386N			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		9	1245	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		350					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	ENST00000265735.7	37	c.1158C>T	CCDS5637.1																																																																																				0.348	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			4	76	0	0	0	1	0	4	76				
GAB3	139716	broad.mit.edu	37	X	153940894	153940894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940894G>T	ENST00000369575.3	-	4	707	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	GAB3_ENST00000424127.2_Missense_Mutation_p.L227M|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	226					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCGGCTGCAGGCAGTCAACA	0.547																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(676-678)Ctg>Atg		GRB2-associated binding protein 3							81.0	78.0	79.0					X																	153940894		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153940894G>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.676C>A	X.37:g.153940894G>T	ENSP00000358588:p.Leu226Met					GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.L227M	p.L226M	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			4	707	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		226					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.676C>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	8.530	0.870795	0.17322	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.21361	2.01;2.01;2.01	5.53	4.66	0.58398	.	0.977614	0.08348	N	0.959663	T	0.24198	0.0586	M	0.75447	2.3	0.09310	N	0.999991	B;B;B	0.30406	0.278;0.278;0.278	B;B;B	0.23716	0.048;0.048;0.048	T	0.28933	-1.0028	10	0.30854	T	0.27	-6.6574	6.7768	0.23624	0.0975:0.1751:0.7274:0.0	.	227;227;226	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	M	226;227;227	ENSP00000358588:L226M;ENSP00000358581:L227M;ENSP00000399588:L227M	ENSP00000358581:L227M	L	-	1	2	GAB3	153594088	0.001000	0.12720	0.081000	0.20488	0.427000	0.31564	0.070000	0.14573	1.078000	0.41014	0.506000	0.49869	CTG		0.547	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		6	52	1	0	8.12818e-05	1	8.99451e-05	6	52				
GDF5	8200	broad.mit.edu	37	20	34021926	34021926	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34021926G>A	ENST00000374372.1	-	4	1790	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	GDF5_ENST00000374369.3_Silent_p.C429C|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	429					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACAGCCCCTCGCAGTGGAAAG	0.587																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(1285-1287)tgC>tgT		growth differentiation factor 5							128.0	110.0	116.0					20																	34021926		2203	4300	6503	SO:0001819	synonymous_variant	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34021926G>A	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1287C>T	20.37:g.34021926G>A						GDF5_ENST00000374369.3_Silent_p.C429C|GDF5OS_ENST00000374375.1_5'UTR	p.C429C			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		4	1790	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		429					E1P5Q2|Q96SB1	Silent	SNP	ENST00000374372.1	37	c.1287C>T	CCDS13254.1																																																																																				0.587	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			22	38	0	0	0	1	0	22	38				
C20orf166-AS1	253868	broad.mit.edu	37	20	61143823	61143823	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61143823G>T	ENST00000475015.1	-	0	515				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1																		TCGTGCGCGAGGTGCCCTGTG	0.672																																						ENST00000475015.1																			0																				106.0	96.0	99.0					20																	61143823		2203	4300	6503			0							g.chr20:61143823G>T	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143823G>T						C20orf166-AS1_ENST00000412495.1_RNA								0	515	-								Q52LN1	RNA	SNP	ENST00000475015.1	37																																																																																						0.672	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		9	96	1	0	1.36491e-13	1	1.73287e-13	9	96				
SRSF7	6432	broad.mit.edu	37	2	38972324	38972324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38972324G>A	ENST00000313117.6	-	8	905	c.668C>T	c.(667-669)tCc>tTc	p.S223F	SRSF7_ENST00000446327.2_Missense_Mutation_p.S211F|SRSF7_ENST00000409276.1_Missense_Mutation_p.S220F	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	223	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTGATGGGGAACGACTAAA	0.368																																						ENST00000313117.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(667-669)tCc>tTc		serine/arginine-rich splicing factor 7							106.0	120.0	116.0					2																	38972324		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38972324G>A	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.668C>T	2.37:g.38972324G>A	ENSP00000325905:p.Ser223Phe					SRSF7_ENST00000409276.1_Missense_Mutation_p.S220F|SRSF7_ENST00000446327.2_Missense_Mutation_p.S211F	p.S223F	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN			8	905	-			223			6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.668C>T	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636997	0.47049	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.46451	1.69;1.38;0.87	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.65396	0.2687	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.64830	0.994;0.99	D;D	0.74348	0.983;0.962	T	0.63730	-0.6571	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	211;223	G5E9M3;Q16629	.;SRSF7_HUMAN	F	223;211;220	ENSP00000325905:S223F;ENSP00000402264:S211F;ENSP00000386806:S220F	ENSP00000325905:S223F	S	-	2	0	SRSF7	38825828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	TCC		0.368	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		37	58	0	0	0	1	0	37	58				
COL4A2	1284	broad.mit.edu	37	13	111109744	111109744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111109744C>T	ENST00000360467.5	+	21	1700	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	465	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGGCTTCCCGGCTCCCCT	0.602																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1393-1395)cCc>cTc		collagen, type IV, alpha 2							59.0	64.0	62.0					13																	111109744		1903	4109	6012	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111109744C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1394C>T	13.37:g.111109744C>T	ENSP00000353654:p.Pro465Leu					COL4A2-AS2_ENST00000458403.2_RNA	p.P465L	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		21	1700	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	465			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1394C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717339	0.30413	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96685	-4.09	4.52	3.6	0.41247	.	0.686206	0.12260	N	0.484782	D	0.95020	0.8388	M	0.78344	2.41	0.09310	N	0.999999	B	0.14438	0.01	B	0.19666	0.026	D	0.88282	0.2937	10	0.30854	T	0.27	.	9.8455	0.41024	0.3182:0.6818:0.0:0.0	.	465	P08572	CO4A2_HUMAN	L	465	ENSP00000353654:P465L	ENSP00000257309:P465L	P	+	2	0	COL4A2	109907745	0.000000	0.05858	0.053000	0.19242	0.143000	0.21401	0.200000	0.17257	2.232000	0.73038	0.462000	0.41574	CCC		0.602	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		7	16	0	0	0	1	0	7	16				
ALG13	79868	broad.mit.edu	37	X	110970862	110970862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110970862G>A	ENST00000394780.3	+	18	2123	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.R600H	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	704					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CGTAGTCACCGCCAGATGAGT	0.348																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(2110-2112)cGc>cAc		ALG13, UDP-N-acetylglucosaminyltransferase subunit							55.0	46.0	49.0					X																	110970862		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110970862G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2111G>A	X.37:g.110970862G>A	ENSP00000378260:p.Arg704His					ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.R600H	p.R704H	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			18	2123	+			704					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2111G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141968	0.77775	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.74842	0.32;-0.88	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	L	0.61218	1.895	0.45295	D	0.998297	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86422	0.1755	10	0.72032	D	0.01	-6.6056	18.4041	0.90528	0.0:0.0:1.0:0.0	.	626;704;600	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	H	600;704;337	ENSP00000251943:R600H;ENSP00000378260:R704H	ENSP00000251943:R600H	R	+	2	0	ALG13	110857518	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.414000	0.59802	2.373000	0.80994	0.594000	0.82650	CGC		0.348	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		13	17	0	0	0	1	0	13	17				
AKNAD1	254268	broad.mit.edu	37	1	109359770	109359770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109359770C>A	ENST00000370001.3	-	15	2547	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	760						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGGGTCTGAGCTGTAGGTCAT	0.453																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(2278-2280)aGc>aTc		AKNA domain containing 1							150.0	152.0	151.0					1																	109359770		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109359770C>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2279G>T	1.37:g.109359770C>A	ENSP00000359018:p.Ser760Ile					AKNAD1_ENST00000477908.1_5'UTR	p.S760I	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			15	2547	-			760					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.2279G>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276753	0.40294	.	.	ENSG00000162641	ENST00000370001	T	0.19669	2.13	5.62	0.0334	0.14179	.	0.413845	0.20881	N	0.083994	T	0.03095	0.0091	N	0.19112	0.55	0.09310	N	0.999994	P	0.40083	0.702	B	0.34418	0.182	T	0.33137	-0.9880	10	0.66056	D	0.02	-0.7822	2.8206	0.05470	0.1298:0.443:0.2681:0.1592	.	760	Q5T1N1	AKND1_HUMAN	I	760	ENSP00000359018:S760I	ENSP00000359018:S760I	S	-	2	0	AKNAD1	109161293	0.000000	0.05858	0.011000	0.14972	0.022000	0.10575	-0.046000	0.11983	0.095000	0.17434	-0.140000	0.14226	AGC		0.453	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		5	52	1	0	0.217242	1	0.218821	5	52				
MYO15A	51168	broad.mit.edu	37	17	18023071	18023071	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023071G>A	ENST00000205890.5	+	2	1295	c.957G>A	c.(955-957)ccG>ccA	p.P319P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	319					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGCGCCCCCGTCGGGGTACT	0.607																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(955-957)ccG>ccA		myosin XVA							53.0	59.0	57.0					17																	18023071		1919	4116	6035	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023071G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.957G>A	17.37:g.18023071G>A							p.P319P	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1295	+	all_neural(463;0.228)		319			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.957G>A	CCDS42271.1																																																																																				0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	61	0	0	0	1	0	5	61				
POLR2C	5432	broad.mit.edu	37	16	57504908	57504908	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57504908C>A	ENST00000219252.5	+	9	1043	c.705C>A	c.(703-705)tcC>tcA	p.S235S		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	235					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ATGTGGAGTCCTGTGGCTCTC	0.527																																						ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(703-705)tcC>tcA		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							125.0	113.0	117.0					16																	57504908		2198	4300	6498	SO:0001819	synonymous_variant	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57504908C>A		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.705C>A	16.37:g.57504908C>A							p.S235S	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			9	1043	+			235					O15161	Silent	SNP	ENST00000219252.5	37	c.705C>A	CCDS10782.1																																																																																				0.527	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		24	51	1	0	7.4402e-23	1	9.83099e-23	24	51				
CDK13	8621	broad.mit.edu	37	7	40027399	40027399	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40027399G>A	ENST00000181839.4	+	2	2018	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	CDK13_ENST00000340829.5_Silent_p.A471A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	471					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						cagaagcagcgaaagctgcag	0.502																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1411-1413)gcG>gcA		cyclin-dependent kinase 13							35.0	36.0	35.0					7																	40027399		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027399G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1413G>A	7.37:g.40027399G>A						CDK13_ENST00000340829.5_Silent_p.A471A	p.A471A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			2	2018	+			471					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.1413G>A	CCDS5461.1																																																																																				0.502	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		23	12	0	0	0	1	0	23	12				
ADD2	119	broad.mit.edu	37	2	70931553	70931553	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70931553C>A	ENST00000264436.4	-	4	666	c.222G>T	c.(220-222)caG>caT	p.Q74H	ADD2_ENST00000430656.1_Missense_Mutation_p.Q90H|ADD2_ENST00000355733.3_Missense_Mutation_p.Q74H|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000407644.2_Missense_Mutation_p.Q74H|ADD2_ENST00000413157.2_Missense_Mutation_p.Q74H	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	74					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTCTTCATCTGCTCCTGGA	0.592																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(220-222)caG>caT		adducin 2 (beta)							139.0	120.0	126.0					2																	70931553		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70931553C>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.222G>T	2.37:g.70931553C>A	ENSP00000264436:p.Gln74His					ADD2_ENST00000355733.3_Missense_Mutation_p.Q74H|ADD2_ENST00000407644.2_Missense_Mutation_p.Q74H|ADD2_ENST00000430656.1_Missense_Mutation_p.Q90H|ADD2_ENST00000413157.2_Missense_Mutation_p.Q74H	p.Q74H	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			4	666	-			74					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.222G>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029970	0.75504	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.32988	3.04;3.04;1.43;1.43;1.43;1.43;1.43;1.43	5.13	2.3	0.28687	.	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.79805	2.47	0.47819	D	0.999522	D;D;D;D;P;D	0.89917	1.0;0.982;0.997;1.0;0.948;0.998	D;D;D;D;P;D	0.91635	0.999;0.915;0.99;0.999;0.823;0.996	T	0.53143	-0.8480	10	0.87932	D	0	-26.4276	9.3909	0.38372	0.0:0.7682:0.0:0.2318	.	90;74;74;74;74;74	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	H	74;74;74;74;74;74;74;74;74;90;74;74	ENSP00000264436:Q74H;ENSP00000384677:Q74H;ENSP00000347972:Q74H;ENSP00000430243:Q74H;ENSP00000388072:Q74H;ENSP00000398112:Q90H;ENSP00000412357:Q74H;ENSP00000412681:Q74H	ENSP00000264436:Q74H	Q	-	3	2	ADD2	70785061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.874000	0.56101	0.300000	0.22699	0.650000	0.86243	CAG		0.592	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		19	38	1	0	4.35082e-09	1	5.25983e-09	19	38				
APOBEC3D	140564	broad.mit.edu	37	22	39421198	39421198	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421198T>C	ENST00000216099.8	+	3	741	c.334T>C	c.(334-336)Tgt>Cgt	p.C112R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C112R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	112	CMP/dCMP deaminase zinc-binding 1.				defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTGCCTGCCCTGTGTGGTGAA	0.552																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(334-336)Tgt>Cgt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							117.0	116.0	116.0					22																	39421198		2203	4300	6503	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39421198T>C	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.334T>C	22.37:g.39421198T>C	ENSP00000216099:p.Cys112Arg					APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C112R	p.C112R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			3	741	+	Melanoma(58;0.04)		112					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.334T>C	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.947439	0.34377	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	D;D	0.99070	-5.39;-5.39	2.27	2.27	0.28462	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	D	0.99318	0.9761	H	0.94385	3.53	0.44754	D	0.997754	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.991	D	0.99211	1.0876	9	0.87932	D	0	.	8.3938	0.32544	0.0:0.0:0.0:1.0	.	112;112	B2CML4;Q96AK3	.;ABC3D_HUMAN	R	112	ENSP00000370980:C112R;ENSP00000216099:C112R	ENSP00000216099:C112R	C	+	1	0	APOBEC3D	37751144	0.997000	0.39634	0.023000	0.16930	0.004000	0.04260	4.441000	0.59981	1.277000	0.44412	0.332000	0.21555	TGT		0.552	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		14	96	0	0	0	1	0	14	96				
SLITRK6	84189	broad.mit.edu	37	13	86370399	86370399	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86370399T>C	ENST00000400286.2	-	2	843	c.245A>G	c.(244-246)aAt>aGt	p.N82S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	82					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAAAAGTCATTTGTGTGAAG	0.388																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(244-246)aAt>aGt		SLIT and NTRK-like family, member 6							181.0	170.0	173.0					13																	86370399		1907	4122	6029	SO:0001583	missense	84189					integral to membrane		g.chr13:86370399T>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.245A>G	13.37:g.86370399T>C	ENSP00000383143:p.Asn82Ser						p.N82S	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	843	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		82					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.245A>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297682	0.60086	.	.	ENSG00000184564	ENST00000400286	T	0.60424	0.19	6.17	6.17	0.99709	.	0.102918	0.64402	D	0.000002	T	0.56262	0.1973	L	0.49256	1.55	0.58432	D	0.999992	P	0.48089	0.905	B	0.44224	0.444	T	0.55237	-0.8172	10	0.33141	T	0.24	-23.8868	15.6463	0.77055	0.0:0.0:0.0:1.0	.	82	Q9H5Y7	SLIK6_HUMAN	S	82	ENSP00000383143:N82S	ENSP00000383143:N82S	N	-	2	0	SLITRK6	85268400	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAT		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		12	129	0	0	0	1	0	12	129				
ZBED1	9189	broad.mit.edu	37	X	2407352	2407352	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2407352T>C	ENST00000381223.4	-	2	1612	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.N470S|ZBED1_ENST00000381218.3_Missense_Mutation_p.N470S|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	470					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGCCACGTTGAGAAACAT	0.612																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1408-1410)aAc>aGc		zinc finger, BED-type containing 1							156.0	153.0	154.0					X																	2407352		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407352T>C	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1409A>G	X.37:g.2407352T>C	ENSP00000370621:p.Asn470Ser					ZBED1_ENST00000381222.2_Missense_Mutation_p.N470S|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.N470S	p.N470S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1612	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	470					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1409A>G	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.021999	0.35701	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.20332	2.08;2.08;2.08	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.078427	0.46758	D	0.000267	T	0.16981	0.0408	.	.	.	0.09310	N	1	D	0.56968	0.978	P	0.46172	0.506	T	0.11641	-1.0579	9	0.16420	T	0.52	-57.183	10.7645	0.46286	0.0:0.0:0.0:1.0	.	470	O96006	ZBED1_HUMAN	S	470	ENSP00000370621:N470S;ENSP00000370620:N470S;ENSP00000370616:N470S	ENSP00000370616:N470S	N	-	2	0	ZBED1	2417352	1.000000	0.71417	0.790000	0.31976	0.258000	0.26162	5.263000	0.65507	0.943000	0.37553	0.422000	0.28245	AAC		0.612	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		55	77	0	0	0	1	0	55	77				
ST6GALNAC6	30815	broad.mit.edu	37	9	130653134	130653134	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130653134G>A	ENST00000373146.1	-	5	665	c.486C>T	c.(484-486)ttC>ttT	p.F162F	ST6GALNAC6_ENST00000373141.1_Silent_p.F128F|ST6GALNAC6_ENST00000373142.1_Silent_p.F162F|ST6GALNAC6_ENST00000291839.5_Silent_p.F162F|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Silent_p.F128F			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	162					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCACGCGGAACACACTGG	0.602																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(484-486)ttC>ttT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							82.0	76.0	78.0					9																	130653134		2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653134G>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.486C>T	9.37:g.130653134G>A						ST6GALNAC6_ENST00000291839.5_Silent_p.F162F|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Silent_p.F128F|ST6GALNAC6_ENST00000373142.1_Silent_p.F162F|ST6GALNAC6_ENST00000373141.1_Silent_p.F128F	p.F162F			Q969X2	SIA7F_HUMAN			5	665	-			162					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.486C>T	CCDS6882.1																																																																																				0.602	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		10	17	0	0	0	1	0	10	17				
CCDC186	55088	broad.mit.edu	37	10	115894781	115894781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115894781C>A	ENST00000369287.3	-	10	1812	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.E114*	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		516										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTCATCTTCTGTTCTTAAT	0.308																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(1546-1548)Gaa>Taa		chromosome 10 open reading frame 118							94.0	93.0	93.0					10																	115894781		2203	4298	6501	SO:0001587	stop_gained	55088							g.chr10:115894781C>A																												ENST00000369287.3:c.1546G>T	10.37:g.115894781C>A	ENSP00000358293:p.Glu516*					C10orf118_ENST00000543782.1_Nonsense_Mutation_p.E114*	p.E516*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	10	1812	-		Colorectal(252;0.172)|Breast(234;0.188)	516					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Nonsense_Mutation	SNP	ENST00000369287.3	37	c.1546G>T	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.195422|9.195422	0.99096|0.99096	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353|ENST00000428953	.|.	.|.	.|.	6.14|6.14	6.14|6.14	0.99180|0.99180	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81346	.|0.4803	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78316	.|-0.2251	.|3	0.33940|.	T|.	0.23|.	.|.	20.8597|20.8597	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	516;114;622|144	.|.	ENSP00000358293:E516X|.	E|R	-|-	1|2	0|0	C10orf118|C10orf118	115884771|115884771	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.376000|7.376000	0.79658|0.79658	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.308	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			5	32	1	0	0.000602214	1	0.000649039	5	32				
CABP2	51475	broad.mit.edu	37	11	67287408	67287408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67287408C>T	ENST00000294288.4	-	6	562	c.493G>A	c.(493-495)Gac>Aac	p.D165N	CABP2_ENST00000353903.5_Missense_Mutation_p.D108N	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	165	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CCATTGGTGTCGAACTGTGGC	0.692																																						ENST00000294288.4																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						c.(493-495)Gac>Aac		calcium binding protein 2							29.0	28.0	28.0					11																	67287408		2198	4294	6492	SO:0001583	missense	51475				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr11:67287408C>T	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.493G>A	11.37:g.67287408C>T	ENSP00000294288:p.Asp165Asn					CABP2_ENST00000353903.5_Missense_Mutation_p.D108N	p.D165N	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN			6	562	-			165			EF-hand 3.			Missense_Mutation	SNP	ENST00000294288.4	37	c.493G>A	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986902	0.93106	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	D;D	0.95821	-3.82;-3.82	4.18	4.18	0.49190	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.999;1.0	D	0.99564	1.0969	10	0.87932	D	0	-33.6886	15.2856	0.73826	0.0:1.0:0.0:0.0	.	171;108;165	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	N	108;165	ENSP00000312037:D108N;ENSP00000294288:D165N	ENSP00000294288:D165N	D	-	1	0	CABP2	67043984	1.000000	0.71417	0.967000	0.41034	0.783000	0.44284	6.928000	0.75846	2.180000	0.69256	0.462000	0.41574	GAC		0.692	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1			9	5	0	0	0	1	0	9	5				
SEMA3E	9723	broad.mit.edu	37	7	83014660	83014660	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83014660C>A	ENST00000307792.3	-	16	2292	c.1825G>T	c.(1825-1827)Gcg>Tcg	p.A609S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAACTTTCGCTTGTAAAGAT	0.398																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1825-1827)Gcg>Tcg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							197.0	180.0	186.0					7																	83014660		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014660C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1825G>T	7.37:g.83014660C>A	ENSP00000303212:p.Ala609Ser					SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549S	p.A609S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			16	2292	-		Medulloblastoma(109;0.109)	609			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1825G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155809	0.78114	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22945	1.93;1.93	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	M	0.65498	2.005	0.58432	D	0.999999	P	0.40534	0.72	P	0.45506	0.483	T	0.16453	-1.0402	10	0.72032	D	0.01	.	14.3418	0.66633	0.1482:0.8517:0.0:0.0	.	609	O15041	SEM3E_HUMAN	S	609;549;609	ENSP00000303212:A609S;ENSP00000405052:A549S	ENSP00000303212:A609S	A	-	1	0	SEMA3E	82852596	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.484000	0.66844	2.597000	0.87782	0.650000	0.86243	GCG		0.398	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		13	193	1	0	2.32078e-09	1	2.82054e-09	13	193				
SYNE1	23345	broad.mit.edu	37	6	152560749	152560749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152560749G>T	ENST00000367255.5	-	108	20587	c.19986C>A	c.(19984-19986)ttC>ttA	p.F6662L	SYNE1_ENST00000356820.4_Missense_Mutation_p.F1186L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F6662L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F6274L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F6591L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F6591L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6662					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTGTATGGAACTGGGTTT	0.458										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(19984-19986)ttC>ttA		spectrin repeat containing, nuclear envelope 1							126.0	107.0	114.0					6																	152560749		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152560749G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19986C>A	6.37:g.152560749G>T	ENSP00000356224:p.Phe6662Leu	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.F6274L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F6662L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F6591L|SYNE1_ENST00000356820.4_Missense_Mutation_p.F1186L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F6591L	p.F6662L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	108	20587	-		Ovarian(120;0.0955)	6662					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19986C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623395	0.28889	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.7	1.8	0.24995	.	0.423635	0.22787	N	0.055658	T	0.03783	0.0107	N	0.14661	0.345	0.23620	N	0.997276	B;B;B	0.17268	0.012;0.012;0.021	B;B;B	0.17098	0.008;0.008;0.017	T	0.44590	-0.9318	10	0.08599	T	0.76	.	5.3796	0.16183	0.1272:0.4359:0.3251:0.1119	.	6662;6662;6591	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	L	6662;6591;6662;6591;6274;1186	ENSP00000356224:F6662L;ENSP00000396024:F6591L;ENSP00000265368:F6662L;ENSP00000390975:F6591L;ENSP00000341887:F6274L;ENSP00000349276:F1186L	ENSP00000265368:F6662L	F	-	3	2	SYNE1	152602442	0.003000	0.15002	0.208000	0.23602	0.969000	0.65631	-0.172000	0.09868	0.034000	0.15491	0.655000	0.94253	TTC		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	35	1	0	4.22769e-11	1	5.25533e-11	28	35				
PDE11A	50940	broad.mit.edu	37	2	178969154	178969154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178969154C>T	ENST00000358450.4	-	2	135	c.37G>A	c.(37-39)Gtg>Atg	p.V13M		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCACTGAGCACATTTCTGAAT	0.398									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000358450.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(37-39)Gtg>Atg		phosphodiesterase 11A							133.0	120.0	124.0					2																	178969154		1843	4096	5939	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178969154C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000358450.4:c.37G>A	2.37:g.178969154C>T	ENSP00000351232:p.Val13Met						p.V13M	NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		2	135	-			0					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000358450.4	37	c.37G>A	CCDS42785.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660017	0.29515	.	.	ENSG00000128655	ENST00000358450	T	0.65916	-0.18	4.98	4.1	0.47936	.	.	.	.	.	T	0.60843	0.2300	.	.	.	0.80722	D	1	P	0.36837	0.571	B	0.42030	0.373	T	0.64097	-0.6487	8	0.66056	D	0.02	.	10.9662	0.47414	0.0:0.8436:0.0:0.1564	.	13	Q9HCR9-2	.	M	13	ENSP00000351232:V13M	ENSP00000351232:V13M	V	-	1	0	PDE11A	178677400	1.000000	0.71417	0.983000	0.44433	0.185000	0.23345	3.725000	0.54970	1.334000	0.45468	0.561000	0.74099	GTG		0.398	PDE11A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334314.2			10	100	0	0	0	1	0	10	100				
ZFP69	339559	broad.mit.edu	37	1	40954849	40954849	+	Missense_Mutation	SNP	G	G	T	rs116054135		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40954849G>T	ENST00000372706.1	+	4	1315	c.309G>T	c.(307-309)gaG>gaT	p.E103D	ZFP69_ENST00000372705.3_Missense_Mutation_p.E103D|ZFP69_ENST00000482712.1_3'UTR			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	103	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TATACCGAGAGGTGATGCTGG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18344	0.0		0.001	False		,,,				2504	0.0					ENST00000372706.1																			0											c.(307-309)gaG>gaT		ZFP69 zinc finger protein							79.0	76.0	77.0					1																	40954849		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40954849G>T	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.309G>T	1.37:g.40954849G>T	ENSP00000361791:p.Glu103Asp					ZFP69_ENST00000482712.1_3'UTR|ZFP69_ENST00000372705.3_Missense_Mutation_p.E103D	p.E103D							4	1315	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.309G>T	CCDS30686.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	2.631	-0.286364	0.05605	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.01304	5.03;5.03	3.62	0.655	0.17839	Krueppel-associated box (4);	0.230458	0.22216	N	0.063025	T	0.00695	0.0023	N	0.11927	0.2	0.27119	N	0.962178	B	0.12630	0.006	B	0.15484	0.013	T	0.47711	-0.9096	10	0.02654	T	1	-5.8802	3.2736	0.06891	0.2253:0.0:0.5707:0.2041	.	103	Q49AA0	ZN642_HUMAN	D	103	ENSP00000361791:E103D;ENSP00000361790:E103D	ENSP00000361790:E103D	E	+	3	2	ZNF642	40727436	0.989000	0.36119	0.999000	0.59377	0.986000	0.74619	-0.048000	0.11944	0.157000	0.19338	0.655000	0.94253	GAG		0.458	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		8	53	1	0	5.4927e-09	1	6.6252e-09	8	53				
LINGO1	84894	broad.mit.edu	37	15	77906437	77906437	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906437T>C	ENST00000355300.6	-	2	1986	c.1812A>G	c.(1810-1812)gcA>gcG	p.A604A	LINGO1_ENST00000561030.1_Silent_p.A598A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	604					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGCTGATGCCTGCGTCCGACT	0.652																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1810-1812)gcA>gcG		leucine rich repeat and Ig domain containing 1							52.0	54.0	54.0					15																	77906437		2043	4161	6204	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906437T>C	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1812A>G	15.37:g.77906437T>C						LINGO1_ENST00000561030.1_Silent_p.A598A	p.A604A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1986	-			604					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.1812A>G	CCDS45313.1																																																																																				0.652	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		6	10	0	0	0	1	0	6	10				
ERCC6L	54821	broad.mit.edu	37	X	71427039	71427039	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71427039A>G	ENST00000334463.3	-	2	1713	c.1578T>C	c.(1576-1578)aaT>aaC	p.N526N	ERCC6L_ENST00000373657.1_Silent_p.N403N|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGTAATCTTTATTTTGCTGGA	0.383																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(1207-1209)aaT>aaC		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							90.0	81.0	84.0					X																	71427039		2203	4300	6503	SO:0001819	synonymous_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427039A>G	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1578T>C	X.37:g.71427039A>G						ERCC6L_ENST00000334463.3_Silent_p.N526N|PIN4_ENST00000423432.2_Intron	p.N403N			Q2NKX8	ERC6L_HUMAN			3	1811	-	Renal(35;0.156)		526					Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.1209T>C	CCDS35329.1																																																																																				0.383	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		39	70	0	0	0	1	0	39	70				
SPAG17	200162	broad.mit.edu	37	1	118558601	118558601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118558601G>T	ENST00000336338.5	-	29	4339	c.4274C>A	c.(4273-4275)cCt>cAt	p.P1425H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1425						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCATTGACAGGATCTGTGGC	0.393																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4273-4275)cCt>cAt		sperm associated antigen 17							131.0	139.0	136.0					1																	118558601		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118558601G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4274C>A	1.37:g.118558601G>T	ENSP00000337804:p.Pro1425His						p.P1425H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	29	4339	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1425					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4274C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690009	0.68271	.	.	ENSG00000155761	ENST00000336338	T	0.63913	-0.07	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	M	0.72894	2.215	0.40829	D	0.983572	D	0.89917	1.0	D	0.87578	0.998	T	0.77552	-0.2545	10	0.87932	D	0	.	15.1658	0.72825	0.0:0.0:1.0:0.0	.	1425	Q6Q759	SPG17_HUMAN	H	1425	ENSP00000337804:P1425H	ENSP00000337804:P1425H	P	-	2	0	SPAG17	118360124	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	5.924000	0.70054	2.307000	0.77673	0.460000	0.39030	CCT		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		14	33	1	0	2.31682e-05	1	2.60394e-05	14	33				
TPCN1	53373	broad.mit.edu	37	12	113726600	113726600	+	Missense_Mutation	SNP	G	G	A	rs147435178		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113726600G>A	ENST00000335509.6	+	21	2058	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	TPCN1_ENST00000392569.4_Missense_Mutation_p.A514T|TPCN1_ENST00000550785.1_Missense_Mutation_p.A654T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A654T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	582					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTACTCCTTCGCCATCGTGGG	0.657																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1960-1962)Gcc>Acc		two pore segment channel 1		G	THR/ALA,THR/ALA	0,4406		0,0,2203	187.0	139.0	155.0		1960,1744	5.4	1.0	12	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TPCN1	NM_001143819.1,NM_017901.4	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	654/889,582/817	113726600	1,13005	2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113726600G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1744G>A	12.37:g.113726600G>A	ENSP00000335300:p.Ala582Thr					TPCN1_ENST00000541517.1_Missense_Mutation_p.A654T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A514T|TPCN1_ENST00000335509.6_Missense_Mutation_p.A582T	p.A654T	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			22	2129	+			582					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1960G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117975	0.94385	0.0	1.16E-4	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.39	5.39	0.77823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.88181	2.935	0.53688	D	0.999973	D;D	0.89917	1.0;0.998	D;D	0.64410	0.925;0.924	D	0.99399	1.0927	10	0.87932	D	0	-34.2856	13.7228	0.62737	0.0:0.0:0.846:0.154	.	654;582	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	582;654;654;514	ENSP00000335300:A582T;ENSP00000448083:A654T;ENSP00000438125:A654T;ENSP00000376350:A514T	ENSP00000335300:A582T	A	+	1	0	TPCN1	112210983	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.048000	0.76606	2.526000	0.85167	0.561000	0.74099	GCC		0.657	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		7	118	0	0	0	1	0	7	118				
CALCA	796	broad.mit.edu	37	11	14990358	14990358	+	Intron	SNP	T	T	C	rs13306224	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14990358T>C	ENST00000486207.1	-	3	236				CALCA_ENST00000361010.3_Intron|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.Q138R|CALCA_ENST00000359642.3_Intron|CALCA_ENST00000331587.4_Missense_Mutation_p.Q138R			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha						activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						GTTGGCATTCTGGGGCATGCT	0.493																																						ENST00000331587.4																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(412-414)cAg>cGg		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						226.0	190.0	202.0					11																	14990358		2200	4294	6494	SO:0001627	intron_variant	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14990358T>C	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.228-958A>G	11.37:g.14990358T>C						CALCA_ENST00000359642.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.Q138R|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000486207.1_Intron	p.Q138R	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN			4	531	-			0					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.413A>G	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	T	8.277	0.814676	0.16607	.	.	ENSG00000110680	ENST00000331587;ENST00000396372	T;T	0.10960	2.82;2.82	4.59	0.985	0.19779	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.43147	-0.9409	9	0.25106	T	0.35	.	2.2331	0.04002	0.1284:0.1521:0.1327:0.5868	.	138	P01258	CALC_HUMAN	R	138	ENSP00000331746:Q138R;ENSP00000379657:Q138R	ENSP00000331746:Q138R	Q	-	2	0	CALCA	14946934	0.000000	0.05858	0.024000	0.17045	0.497000	0.33675	-1.078000	0.03413	0.344000	0.23847	0.533000	0.62120	CAG		0.493	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		8	164	0	0	0	1	0	8	164				
STEAP3	55240	broad.mit.edu	37	2	120005430	120005430	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120005430T>A	ENST00000354888.5	+	4	1172	c.668T>A	c.(667-669)tTc>tAc	p.F223Y	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.F233Y|STEAP3_ENST00000409811.1_Missense_Mutation_p.F223Y|STEAP3_ENST00000425223.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393107.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393106.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000450943.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393108.2_Missense_Mutation_p.F223Y	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	223					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTGGGGCTCTTCGTCTGCTTC	0.632																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(667-669)tTc>tAc		STEAP family member 3, metalloreductase							98.0	91.0	93.0					2																	120005430		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005430T>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.668T>A	2.37:g.120005430T>A	ENSP00000346961:p.Phe223Tyr					STEAP3_ENST00000393107.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393110.2_Missense_Mutation_p.F233Y|STEAP3_ENST00000425223.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393108.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000450943.2_Missense_Mutation_p.F223Y|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000409811.1_Missense_Mutation_p.F223Y	p.F223Y	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1172	+			223					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.668T>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843432	0.51057	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.09538	3.16;3.16;2.97;3.15;3.16;2.97;3.16;3.16	4.68	3.52	0.40303	NAD(P)-binding domain (1);	0.060706	0.64402	D	0.000003	T	0.19366	0.0465	M	0.76002	2.32	0.42008	D	0.990923	P;P;P	0.48911	0.729;0.917;0.771	B;P;B	0.49192	0.391;0.602;0.38	T	0.01301	-1.1391	9	.	.	.	-14.4186	9.6734	0.40026	0.0:0.0822:0.0:0.9178	.	223;233;223	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	Y	223;223;223;233;223;223;223;223	ENSP00000376820:F223Y;ENSP00000346961:F223Y;ENSP00000396873:F223Y;ENSP00000376822:F233Y;ENSP00000376818:F223Y;ENSP00000386510:F223Y;ENSP00000376819:F223Y;ENSP00000396214:F223Y	.	F	+	2	0	STEAP3	119721900	1.000000	0.71417	0.021000	0.16686	0.970000	0.65996	4.931000	0.63469	0.825000	0.34637	0.456000	0.33151	TTC		0.632	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		25	22	0	0	0	1	0	25	22				
PROC	5624	broad.mit.edu	37	2	128183683	128183683	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128183683C>A	ENST00000234071.3	+	7	645	c.558C>A	c.(556-558)ccC>ccA	p.P186P	PROC_ENST00000409048.1_Silent_p.P220P|PROC_ENST00000453608.2_Silent_p.P241P|MIR4783_ENST00000580343.1_RNA|PROC_ENST00000422777.3_Silent_p.P186P	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	186					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGGGAGGCCCTGGAAGCGGA	0.592																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(721-723)ccC>ccA		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						103.0	87.0	92.0					2																	128183683		2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128183683C>A	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.558C>A	2.37:g.128183683C>A						PROC_ENST00000409048.1_Silent_p.P220P|PROC_ENST00000422777.3_Silent_p.P186P|PROC_ENST00000234071.3_Silent_p.P186P	p.P241P			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	6	731	+	Colorectal(110;0.1)		186			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.723C>A	CCDS2145.1																																																																																				0.592	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		11	35	1	0	0.105934	1	0.108051	11	35				
NOXRED1	122945	broad.mit.edu	37	14	77872299	77872299	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77872299C>A	ENST00000380835.2	-	5	1028	c.862G>T	c.(862-864)Gat>Tat	p.D288Y		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	288					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGACAAAATCTGTTAATTGC	0.458																																						ENST00000380835.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(862-864)Gat>Tat		NADP-dependent oxidoreductase domain containing 1							99.0	90.0	92.0					14																	77872299		1568	3582	5150	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77872299C>A	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.862G>T	14.37:g.77872299C>A	ENSP00000370215:p.Asp288Tyr						p.D288Y	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN			5	1028	-			288					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.862G>T	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053689	0.55218	.	.	ENSG00000165555	ENST00000380835	T	0.58060	0.36	5.66	1.33	0.21861	.	0.389223	0.26446	N	0.024337	T	0.58779	0.2146	L	0.56769	1.78	0.30911	N	0.729061	D	0.61697	0.99	P	0.57009	0.811	T	0.62728	-0.6793	10	0.72032	D	0.01	-7.4072	9.5769	0.39463	0.1517:0.4074:0.4409:0.0	.	288	Q6NXP6	NXRD1_HUMAN	Y	288	ENSP00000370215:D288Y	ENSP00000370215:D288Y	D	-	1	0	C14orf148	76942052	0.233000	0.23772	0.081000	0.20488	0.896000	0.52359	0.741000	0.26202	0.267000	0.21916	0.460000	0.39030	GAT		0.458	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		15	33	1	0	0.000308642	1	0.000336111	15	33				
FAT3	120114	broad.mit.edu	37	11	92577645	92577645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92577645G>A	ENST00000298047.6	+	18	11129	c.11112G>A	c.(11110-11112)gcG>gcA	p.A3704A	FAT3_ENST00000533797.1_Silent_p.A39A|FAT3_ENST00000525166.1_Silent_p.A3554A|FAT3_ENST00000409404.2_Silent_p.A3704A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3704					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTGTTTGCGGTGGAGATGC	0.567										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11110-11112)gcG>gcA		FAT atypical cadherin 3							49.0	50.0	50.0					11																	92577645		2158	4250	6408	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577645G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11112G>A	11.37:g.92577645G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.A3554A|FAT3_ENST00000409404.2_Silent_p.A3704A|FAT3_ENST00000533797.1_Silent_p.A39A	p.A3704A			Q8TDW7	FAT3_HUMAN			18	11129	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3704					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11112G>A																																																																																					0.567	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	15	0	0	0	1	0	9	15				
CLMP	79827	broad.mit.edu	37	11	122955285	122955285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122955285C>T	ENST00000448775.2	-	3	663	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	CLMP_ENST00000530371.1_5'Flank	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	108	Ig-like C2-type 1.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ACAGGTGTACCGGCCCTCATC	0.493																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(322-324)cGg>cAg		CXADR-like membrane protein							90.0	78.0	82.0					11																	122955285		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122955285C>T	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.323G>A	11.37:g.122955285C>T	ENSP00000405577:p.Arg108Gln						p.R108Q	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			3	663	-			108			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000448775.2	37	c.323G>A	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914769	0.33815	.	.	ENSG00000166250	ENST00000448775	T	0.65732	-0.17	5.69	3.57	0.40892	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.344679	0.33938	N	0.004404	T	0.28699	0.0711	N	0.03000	-0.44	0.30582	N	0.762407	B	0.15141	0.012	B	0.08055	0.003	T	0.07616	-1.0763	10	0.22706	T	0.39	.	1.8752	0.03217	0.3082:0.4311:0.0:0.2607	.	108	Q9H6B4	CLMP_HUMAN	Q	108	ENSP00000405577:R108Q	ENSP00000405577:R108Q	R	-	2	0	CLMP	122460495	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.193000	0.42658	1.378000	0.46305	0.650000	0.86243	CGG		0.493	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		26	29	0	0	0	1	0	26	29				
KLHL21	9903	broad.mit.edu	37	1	6653596	6653596	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6653596G>A	ENST00000377658.4	-	4	1674	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	KLHL21_ENST00000377663.3_3'UTR|KLHL21_ENST00000467612.1_Silent_p.S174S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	541					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCCCCACCACGCTCCACGCGC	0.612																																						ENST00000377658.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8						c.(1621-1623)agC>agT		kelch-like family member 21							77.0	61.0	66.0					1																	6653596		2203	4300	6503	SO:0001819	synonymous_variant	9903				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		g.chr1:6653596G>A	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"""Kelch-like"", ""BTB/POZ domain containing"""	29041	protein-coding gene	gene with protein product			"""kelch-like 21 (Drosophila)"""				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1623C>T	1.37:g.6653596G>A						KLHL21_ENST00000377663.3_3'UTR|KLHL21_ENST00000467612.1_Silent_p.S174S	p.S541S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)	4	1674	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	541					B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Silent	SNP	ENST00000377658.4	37	c.1623C>T	CCDS30575.1																																																																																				0.612	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		12	21	0	0	0	1	0	12	21				
ZSCAN5A	79149	broad.mit.edu	37	19	56734042	56734042	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56734042C>T	ENST00000587340.1	-	6	1352	c.657G>A	c.(655-657)caG>caA	p.Q219Q	ZSCAN5A_ENST00000254165.3_Silent_p.Q102Q|ZSCAN5A_ENST00000587492.1_Silent_p.Q73Q|ZSCAN5A_ENST00000592355.1_Silent_p.Q219Q|ZSCAN5A_ENST00000391713.1_Silent_p.Q219Q			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	219					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCAAGGTCTGCTTGGGTC	0.488																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(655-657)caG>caA		zinc finger and SCAN domain containing 5A							205.0	173.0	184.0					19																	56734042		2203	4300	6503	SO:0001819	synonymous_variant	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56734042C>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.657G>A	19.37:g.56734042C>T						ZSCAN5A_ENST00000254165.3_Silent_p.Q102Q|ZSCAN5A_ENST00000587492.1_Silent_p.Q73Q|ZSCAN5A_ENST00000391713.1_Silent_p.Q219Q|ZSCAN5A_ENST00000592355.1_Silent_p.Q219Q	p.Q219Q			Q9BUG6	ZSA5A_HUMAN			6	1352	-			219					B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	c.657G>A	CCDS12941.1																																																																																				0.488	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		42	50	0	0	0	1	0	42	50				
DYSF	8291	broad.mit.edu	37	2	71838445	71838445	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71838445T>A	ENST00000258104.3	+	37	4251	c.3974T>A	c.(3973-3975)aTc>aAc	p.I1325N	DYSF_ENST00000409366.1_Missense_Mutation_p.I1326N|DYSF_ENST00000394120.2_Missense_Mutation_p.I1326N|DYSF_ENST00000409651.1_Missense_Mutation_p.I1357N|DYSF_ENST00000429174.2_Missense_Mutation_p.I1325N|DYSF_ENST00000410041.1_Missense_Mutation_p.I1343N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.I1312N|DYSF_ENST00000413539.2_Missense_Mutation_p.I1356N|DYSF_ENST00000409582.3_Missense_Mutation_p.I1342N|DYSF_ENST00000409762.1_Missense_Mutation_p.I1342N|DYSF_ENST00000410020.3_Missense_Mutation_p.I1343N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1325			I -> M (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|I -> V (in dbSNP:rs145401010). {ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCAGAACATCAAGCCAGCG	0.637																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3973-3975)aTc>aAc		dysferlin							70.0	62.0	65.0					2																	71838445		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71838445T>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3974T>A	2.37:g.71838445T>A	ENSP00000258104:p.Ile1325Asn					DYSF_ENST00000413539.2_Missense_Mutation_p.I1356N|DYSF_ENST00000409744.1_Missense_Mutation_p.I1312N|DYSF_ENST00000410020.3_Missense_Mutation_p.I1343N|DYSF_ENST00000409582.3_Missense_Mutation_p.I1342N|DYSF_ENST00000410041.1_Missense_Mutation_p.I1343N|DYSF_ENST00000394120.2_Missense_Mutation_p.I1326N|DYSF_ENST00000409762.1_Missense_Mutation_p.I1342N|DYSF_ENST00000409651.1_Missense_Mutation_p.I1357N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.I1326N|DYSF_ENST00000429174.2_Missense_Mutation_p.I1325N	p.I1325N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			37	4251	+			1325		I -> M (in a breast cancer sample; somatic mutation).|I -> V.			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3974T>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280815	0.80692	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	4.81	4.81	0.61882	C2 calcium/lipid-binding domain, CaLB (1);	0.102804	0.64402	D	0.000004	D	0.89825	0.6827	M	0.90542	3.125	0.58432	D	0.999999	B;B;B;B;B;B;B;B;P;B;P;B;B;B;B	0.35600	0.377;0.016;0.036;0.036;0.036;0.301;0.301;0.301;0.511;0.036;0.511;0.152;0.036;0.016;0.021	B;B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.48304	0.234;0.059;0.043;0.043;0.043;0.222;0.222;0.222;0.573;0.043;0.412;0.132;0.043;0.059;0.019	D	0.91295	0.5062	10	0.87932	D	0	-23.6494	12.6103	0.56547	0.0:0.0:0.0:1.0	.	68;1357;1343;1326;1312;1343;1312;1342;1311;1356;1342;1325;1311;1326;1325	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1356;1342;1342;1325;1325;1357;1326;1312;1326;1343;1343	ENSP00000407046:I1356N;ENSP00000387137:I1342N;ENSP00000386547:I1342N;ENSP00000398305:I1325N;ENSP00000258104:I1325N;ENSP00000386683:I1357N;ENSP00000377678:I1326N;ENSP00000386285:I1312N;ENSP00000386512:I1326N;ENSP00000386881:I1343N;ENSP00000386617:I1343N	ENSP00000258104:I1325N	I	+	2	0	DYSF	71691953	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.019000	0.88732	1.947000	0.56498	0.459000	0.35465	ATC		0.637	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		4	16	0	0	0	1	0	4	16				
PHIP	55023	broad.mit.edu	37	6	79655810	79655810	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79655810A>G	ENST00000275034.4	-	38	4705	c.4538T>C	c.(4537-4539)gTa>gCa	p.V1513A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1513					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AACTGGATCTACAACCACTCG	0.423																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4537-4539)gTa>gCa		pleckstrin homology domain interacting protein							164.0	141.0	149.0					6																	79655810		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655810A>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4538T>C	6.37:g.79655810A>G	ENSP00000275034:p.Val1513Ala					PHIP_ENST00000479165.1_5'UTR	p.V1513A	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4705	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1513					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4538T>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	3.463	-0.109581	0.06924	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.37915	1.17	5.96	0.702	0.18110	.	0.719300	0.13556	N	0.379111	T	0.06416	0.0165	N	0.19112	0.55	0.25348	N	0.988896	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39542	-0.9609	9	.	.	.	-1.3847	4.9255	0.13891	0.4984:0.1739:0.3277:0.0	.	1513;1513	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	1513;239	ENSP00000275034:V1513A	.	V	-	2	0	PHIP	79712529	0.080000	0.21391	0.689000	0.30133	0.272000	0.26649	0.413000	0.21148	0.127000	0.18452	0.533000	0.62120	GTA		0.423	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			16	60	0	0	0	1	0	16	60				
VPS13D	55187	broad.mit.edu	37	1	12353762	12353762	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12353762G>A	ENST00000358136.3	+	24	6163		c.e24+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCAGACGGTAGGTAGCCT	0.512																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.e24+1		vacuolar protein sorting 13 homolog D (S. cerevisiae)							46.0	43.0	44.0					1																	12353762		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12353762G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6033+1G>A	1.37:g.12353762G>A						VPS13D_ENST00000356315.4_Splice_Site		NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	24	6163	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)							Splice_Site	SNP	ENST00000358136.3	37		CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945958	0.92593	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12276349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.660000	0.90430	0.655000	0.94253	.		0.512	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	6	18	0	0	0	1	0	6	18				
LIPA	3988	broad.mit.edu	37	10	90984986	90984986	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984986C>A	ENST00000336233.5	-	6	861		c.e6-1		LIPA_ENST00000371837.1_Splice_Site|LIPA_ENST00000456827.1_Splice_Site			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GCTATAAAACCTGTGAGAACA	0.488																																						ENST00000336233.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.e6-1		lipase A, lysosomal acid, cholesterol esterase							110.0	123.0	119.0					10																	90984986		2203	4300	6503	SO:0001630	splice_region_variant	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:90984986C>A	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.539-1G>T	10.37:g.90984986C>A						LIPA_ENST00000456827.1_Splice_Site|LIPA_ENST00000371837.1_Splice_Site				P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	6	861	-		Colorectal(252;0.0162)						B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Splice_Site	SNP	ENST00000336233.5	37		CCDS7401.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043640	0.75732	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000428800;ENST00000282673	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7374	0.88397	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIPA	90974966	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.593000	0.74100	2.735000	0.93741	0.655000	0.94253	.		0.488	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235	Intron	11	194	1	0	3.86212e-05	1	4.30401e-05	11	194				
PXDN	7837	broad.mit.edu	37	2	1677432	1677432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1677432C>A	ENST00000252804.4	-	9	1051	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	334					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGAAGTACCTGAGGGTCAC	0.552																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1000-1002)aGg>aTg		peroxidasin homolog (Drosophila)							156.0	161.0	160.0					2																	1677432		2065	4196	6261	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677432C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1001G>T	2.37:g.1677432C>A	ENSP00000252804:p.Arg334Met					PXDN_ENST00000483018.1_5'UTR	p.R334M	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	1051	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	334					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1001G>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.738230|4.738230	0.89573|0.89573	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.39997	.|1.05	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66076|0.66076	0.2753|0.2753	M|M	0.79475|0.79475	2.455|2.455	0.50467|0.50467	D|D	0.999871|0.999871	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.74348	.|0.967;0.983	T|T	0.66221|0.66221	-0.5978|-0.5978	5|10	.|0.46703	.|T	.|0.11	-27.4033|-27.4033	17.7383|17.7383	0.88400|0.88400	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|334;334	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	C|M	330|334	.|ENSP00000252804:R334M	.|ENSP00000252804:R334M	G|R	-|-	1|2	0|0	PXDN|PXDN	1656439|1656439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.683000|7.683000	0.84093|0.84093	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	GGT|AGG		0.552	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		48	83	1	0	1.00953e-15	1	1.29747e-15	48	83				
NRM	11270	broad.mit.edu	37	6	30656463	30656463	+	Missense_Mutation	SNP	C	C	T	rs139617550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30656463C>T	ENST00000259953.4	-	5	1115	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	PPP1R18_ENST00000488324.1_5'Flank|NRM_ENST00000470733.1_5'UTR|PPP1R18_ENST00000274853.3_5'Flank|NRM_ENST00000376421.5_Missense_Mutation_p.R255Q|PPP1R18_ENST00000399199.3_5'Flank|NRM_ENST00000376420.5_Missense_Mutation_p.R196Q	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	255						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)				large_intestine(1)|lung(2)	3						ATCCTGGGGCCGAGAGAGCAG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18654	0.0		0.001	False		,,,				2504	0.0					ENST00000259953.4																			0				large_intestine(1)|lung(2)	3						c.(763-765)cGg>cAg		nurim (nuclear envelope membrane protein)							53.0	59.0	57.0					6																	30656463		2203	4300	6503	SO:0001583	missense	11270					integral to membrane|nuclear inner membrane		g.chr6:30656463C>T	AF143676	CCDS4686.1, CCDS59498.1	6p21.3	2010-02-17			ENSG00000137404	ENSG00000137404			8003	protein-coding gene	gene with protein product						10402458, 17517639	Standard	NM_007243		Approved	NRM29	uc031sng.1	Q8IXM6	OTTHUMG00000031223	ENST00000259953.4:c.764G>A	6.37:g.30656463C>T	ENSP00000259953:p.Arg255Gln					NRM_ENST00000376420.5_Missense_Mutation_p.R196Q|NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Missense_Mutation_p.R255Q	p.R255Q	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN			5	1115	-			255					B0S7R0|B0S7R1|I3XIE2|I3XIE3|Q5JP57|Q5JP58|Q5JP59|Q5JP60|Q8WU45|Q9BSX3|Q9UN92	Missense_Mutation	SNP	ENST00000259953.4	37	c.764G>A	CCDS4686.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164541	0.57476	.	.	ENSG00000137404	ENST00000259953;ENST00000376420;ENST00000376421	.	.	.	5.26	3.37	0.38596	.	0.617358	0.16050	N	0.232004	T	0.12305	0.0299	L	0.27053	0.805	0.09310	N	1	B	0.26081	0.141	B	0.14023	0.01	T	0.12785	-1.0534	9	0.59425	D	0.04	-21.3642	7.8368	0.29374	0.1602:0.7534:0.0:0.0864	.	255	Q8IXM6	NRM_HUMAN	Q	255;196;255	.	ENSP00000259953:R255Q	R	-	2	0	NRM	30764442	0.992000	0.36948	0.988000	0.46212	0.800000	0.45204	1.323000	0.33701	1.225000	0.43566	-0.150000	0.13652	CGG		0.572	NRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076466.2			18	31	0	0	0	1	0	18	31				
UBR4	23352	broad.mit.edu	37	1	19441364	19441364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19441364G>T	ENST00000375254.3	-	75	11170	c.11143C>A	c.(11143-11145)Ctc>Atc	p.L3715I	UBR4_ENST00000375218.3_Missense_Mutation_p.L130I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3691I|UBR4_ENST00000375267.2_Missense_Mutation_p.L3715I|UBR4_ENST00000375217.2_Missense_Mutation_p.L3708I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3715					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGGCATAGAGCATGAAGTCG	0.507																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(11143-11145)Ctc>Atc		ubiquitin protein ligase E3 component n-recognin 4							182.0	176.0	178.0					1																	19441364		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19441364G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11143C>A	1.37:g.19441364G>T	ENSP00000364403:p.Leu3715Ile					UBR4_ENST00000375254.3_Missense_Mutation_p.L3715I|UBR4_ENST00000375217.2_Missense_Mutation_p.L3708I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3691I|UBR4_ENST00000375218.3_Missense_Mutation_p.L130I	p.L3715I			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	75	11146	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3715					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.11143C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079596	0.55753	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T;T	0.30448	1.66;1.66;1.68;1.69;1.53	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.44542	1.39	0.80722	D	1	B;P	0.52842	0.136;0.956	B;D	0.65010	0.052;0.931	T	0.08432	-1.0722	10	0.33940	T	0.23	.	13.0338	0.58859	0.0774:0.0:0.9226:0.0	.	130;3715	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	I	3715;3715;3708;3691;130	ENSP00000364403:L3715I;ENSP00000364416:L3715I;ENSP00000364365:L3708I;ENSP00000364374:L3691I;ENSP00000364366:L130I	ENSP00000364365:L3708I	L	-	1	0	UBR4	19313951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.406000	0.59748	2.767000	0.95098	0.655000	0.94253	CTC		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	142	1	0	3.59834e-05	1	4.01776e-05	6	142				
CCDC138	165055	broad.mit.edu	37	2	109405347	109405347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109405347C>T	ENST00000295124.4	+	3	251	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.S64L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	64										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTTGGTTCATCGTTAAAATAT	0.358																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(190-192)tCg>tTg		coiled-coil domain containing 138							169.0	163.0	165.0					2																	109405347		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109405347C>T	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.191C>T	2.37:g.109405347C>T	ENSP00000295124:p.Ser64Leu					CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.S64L	p.S64L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			3	251	+			64					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.191C>T	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	C	3.809	-0.040067	0.07497	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.89939	-2.59;-2.59	4.03	2.23	0.28157	.	0.352458	0.20938	N	0.082970	D	0.82903	0.5138	L	0.57536	1.79	0.09310	N	1	B;P	0.52463	0.045;0.953	B;B	0.38985	0.006;0.287	T	0.74954	-0.3488	10	0.49607	T	0.09	-5.5115	6.3944	0.21605	0.0:0.7792:0.0:0.2208	.	64;64	Q96M89-2;Q96M89	.;CC138_HUMAN	L	64	ENSP00000411800:S64L;ENSP00000295124:S64L	ENSP00000295124:S64L	S	+	2	0	CCDC138	108771779	0.002000	0.14202	0.008000	0.14137	0.385000	0.30292	0.700000	0.25601	0.662000	0.31006	0.650000	0.86243	TCG		0.358	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		40	68	0	0	0	1	0	40	68				
OR51D1	390038	broad.mit.edu	37	11	4661550	4661550	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4661550A>G	ENST00000357605.2	+	1	606	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATCCTCAAGTGGTTGTCC	0.502																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(529-531)aAg>aGg		olfactory receptor, family 51, subfamily D, member 1							270.0	231.0	244.0					11																	4661550		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661550A>G	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.530A>G	11.37:g.4661550A>G	ENSP00000350222:p.Lys177Arg						p.K177R	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	606	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	177					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.530A>G	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	A	5.308	0.242155	0.10077	.	.	ENSG00000197428	ENST00000357605	T	0.00084	8.75	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000240	T	0.00178	0.0005	L	0.37850	1.14	0.09310	N	1	P	0.36753	0.568	P	0.45343	0.477	T	0.42682	-0.9437	10	0.32370	T	0.25	.	7.7788	0.29054	0.9045:0.0:0.0955:0.0	.	177	Q8NGF3	O51D1_HUMAN	R	177	ENSP00000350222:K177R	ENSP00000350222:K177R	K	+	2	0	OR51D1	4618126	0.000000	0.05858	0.993000	0.49108	0.006000	0.05464	0.451000	0.21779	1.970000	0.57323	0.460000	0.39030	AAG		0.502	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		6	144	0	0	0	1	0	6	144				
GRK5	2869	broad.mit.edu	37	10	121189892	121189892	+	Missense_Mutation	SNP	C	C	T	rs369944660		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121189892C>T	ENST00000392870.2	+	7	868	c.539C>T	c.(538-540)cCg>cTg	p.P180L	GRK5_ENST00000369108.3_Missense_Mutation_p.P75L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	180	N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCAGGCAACCGGTGACCAAA	0.483																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(538-540)cCg>cTg		G protein-coupled receptor kinase 5		C	LEU/PRO	0,4406		0,0,2203	142.0	139.0	140.0		539	5.2	1.0	10		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRK5	NM_005308.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	180/591	121189892	1,13005	2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121189892C>T	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.539C>T	10.37:g.121189892C>T	ENSP00000376609:p.Pro180Leu					GRK5_ENST00000369108.3_Missense_Mutation_p.P75L	p.P180L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	7	868	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	180			N-terminal.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.539C>T	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761689	0.69763	0.0	1.16E-4	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.02656	4.21;4.21	5.24	5.24	0.73138	Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000015	T	0.11707	0.0285	L	0.41961	1.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.01600	-1.1315	10	0.66056	D	0.02	-28.98	18.8439	0.92196	0.0:1.0:0.0:0.0	.	180;180	B2R7K0;P34947	.;GRK5_HUMAN	L	180;75;75	ENSP00000376609:P180L;ENSP00000358104:P75L	ENSP00000358104:P75L	P	+	2	0	GRK5	121179882	1.000000	0.71417	0.988000	0.46212	0.874000	0.50279	7.792000	0.85828	2.443000	0.82685	0.563000	0.77884	CCG		0.483	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		5	73	0	0	0	1	0	5	73				
TTN	7273	broad.mit.edu	37	2	179419595	179419595	+	Missense_Mutation	SNP	G	G	T	rs371483198		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179419595G>T	ENST00000591111.1	-	281	83892	c.83668C>A	c.(83668-83670)Ctt>Att	p.L27890I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20466I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20591I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26963I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L29531I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20658I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27890					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCTACCAAGGATCTGTACT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(88591-88593)Ctt>Att		titin							91.0	89.0	90.0					2																	179419595		1942	4155	6097	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419595G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83668C>A	2.37:g.179419595G>T	ENSP00000465570:p.Leu27890Ile					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20466I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26963I|TTN_ENST00000359218.5_Missense_Mutation_p.L20591I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20658I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L27890I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.L29531I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		331	88815	-			27890			Fibronectin type-III 115.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.88591C>A		.	.	.	.	.	.	.	.	.	.	G	17.79	3.476065	0.63737	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.96	5.96	0.96718	Immunoglobulin subtype (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.41858	0.1177	N	0.16862	0.45	0.80722	D	1	D;D;D;D	0.59767	0.958;0.958;0.958;0.986	P;P;P;P	0.49922	0.531;0.531;0.531;0.626	T	0.41270	-0.9518	9	0.87932	D	0	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	20466;20591;20658;27890	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26963;20466;20658;20591;20463	ENSP00000343764:L26963I;ENSP00000434586:L20466I;ENSP00000340554:L20658I;ENSP00000352154:L20591I	ENSP00000340554:L20658I	L	-	1	0	TTN	179127841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.669000	0.74462	2.826000	0.97356	0.655000	0.94253	CTT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	33	1	0	2.27111e-07	1	2.66951e-07	13	33				
ZNF106	64397	broad.mit.edu	37	15	42744114	42744114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42744114G>T	ENST00000263805.4	-	2	613	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	96					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTGTCATCAGAGTTTATTTC	0.438																																						ENST00000263805.4																			0											c.(286-288)tCt>tAt		zinc finger protein 106							219.0	202.0	208.0					15																	42744114		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42744114G>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.287C>A	15.37:g.42744114G>T	ENSP00000263805:p.Ser96Tyr					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.S96Y	NM_022473.1	NP_071918.1					2	613	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.287C>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880368	0.72294	.	.	ENSG00000103994	ENST00000263805	T	0.19105	2.17	5.92	5.92	0.95590	.	0.496344	0.19849	N	0.104700	T	0.30103	0.0754	L	0.50333	1.59	0.80722	D	1	P	0.49447	0.924	P	0.48030	0.564	T	0.00804	-1.1559	10	0.62326	D	0.03	-0.148	16.0979	0.81139	0.0:0.1699:0.8301:0.0	.	96	Q9H2Y7	ZF106_HUMAN	Y	96	ENSP00000263805:S96Y	ENSP00000263805:S96Y	S	-	2	0	ZFP106	40531406	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.757000	0.55212	2.816000	0.96949	0.632000	0.83419	TCT		0.438	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		18	210	1	0	1.64113e-05	1	1.85146e-05	18	210				
TNS3	64759	broad.mit.edu	37	7	47384355	47384355	+	Missense_Mutation	SNP	C	C	T	rs200980382	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47384355C>T	ENST00000398879.1	-	20	3014	c.2648G>A	c.(2647-2649)cGt>cAt	p.R883H	TNS3_ENST00000355730.3_Missense_Mutation_p.R643H|TNS3_ENST00000311160.9_Missense_Mutation_p.R883H			Q68CZ2	TENS3_HUMAN	tensin 3	883					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTTCTTACCACGTCCTCCTTT	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		17105	0.0		0.001	False		,,,				2504	0.001					ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2647-2649)cGt>cAt		tensin 3		C	HIS/ARG	1,3859		0,1,1929	45.0	51.0	49.0		2648	-5.5	0.0	7		49	2,8276		0,2,4137	yes	missense	TNS3	NM_022748.11	29	0,3,6066	TT,TC,CC		0.0242,0.0259,0.0247	benign	883/1446	47384355	3,12135	1930	4139	6069	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384355C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2648G>A	7.37:g.47384355C>T	ENSP00000381854:p.Arg883His					TNS3_ENST00000355730.3_Missense_Mutation_p.R643H|TNS3_ENST00000311160.9_Missense_Mutation_p.R883H	p.R883H			Q68CZ2	TENS3_HUMAN			20	3014	-			883					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2648G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496265	0.12762	2.59E-4	2.42E-4	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94046	-2.92;-2.92;-3.34;-3.0	5.55	-5.53	0.02552	.	1.215580	0.06187	N	0.680532	T	0.77103	0.4081	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69183	-0.5212	10	0.13108	T	0.6	-7.2871	1.6302	0.02731	0.2359:0.1073:0.3856:0.2713	.	883	Q68CZ2	TENS3_HUMAN	H	883;993;883;643;339;986	ENSP00000312143:R883H;ENSP00000381854:R883H;ENSP00000347968:R643H;ENSP00000414358:R986H	ENSP00000312143:R883H	R	-	2	0	TNS3	47350880	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-0.421000	0.07053	-0.819000	0.04323	0.462000	0.41574	CGT		0.582	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		36	36	0	0	0	1	0	36	36				
PREX1	57580	broad.mit.edu	37	20	47269912	47269912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47269912C>T	ENST00000371941.3	-	20	2355	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	PREX1_ENST00000396220.1_Missense_Mutation_p.R778H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	778					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCTCTTCGCGCCGACTCCG	0.577																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2332-2334)cGc>cAc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							79.0	82.0	81.0					20																	47269912		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47269912C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2333G>A	20.37:g.47269912C>T	ENSP00000361009:p.Arg778His					PREX1_ENST00000371941.3_Missense_Mutation_p.R778H	p.R778H			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2355	-			778					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2333G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196922	0.38806	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37411	1.2;1.2	5.12	-4.14	0.03892	PDZ/DHR/GLGF (1);	0.741326	0.11368	U	0.571207	T	0.23210	0.0561	L	0.29908	0.895	0.09310	N	1	P;P	0.44659	0.757;0.84	B;P	0.45037	0.433;0.467	T	0.17592	-1.0364	10	0.72032	D	0.01	.	2.6645	0.05037	0.1178:0.3042:0.1165:0.4615	.	778;75	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	H	778	ENSP00000361009:R778H;ENSP00000379522:R778H	ENSP00000361009:R778H	R	-	2	0	PREX1	46703319	0.005000	0.15991	0.000000	0.03702	0.080000	0.17528	0.409000	0.21082	-0.267000	0.09325	-0.368000	0.07277	CGC		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		52	80	0	0	0	1	0	52	80				
GPR32	2854	broad.mit.edu	37	19	51274782	51274782	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274782A>G	ENST00000270590.4	+	1	1062	c.925A>G	c.(925-927)Agc>Ggc	p.S309G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	309					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGTGTCAACAGCAGCCTCAA	0.547																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(925-927)Agc>Ggc		G protein-coupled receptor 32							86.0	82.0	83.0					19																	51274782		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274782A>G	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.925A>G	19.37:g.51274782A>G	ENSP00000270590:p.Ser309Gly						p.S309G	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1062	+		all_neural(266;0.131)	309					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.925A>G	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788580	0.31685	.	.	ENSG00000142511	ENST00000270590	T	0.79653	-1.29	2.48	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.88202	0.6373	M	0.89030	3	0.34637	D	0.720204	D	0.76494	0.999	D	0.71414	0.973	D	0.87135	0.2199	9	0.59425	D	0.04	.	5.6879	0.17813	0.8429:0.0:0.1571:0.0	.	309	O75388	GPR32_HUMAN	G	309	ENSP00000270590:S309G	ENSP00000270590:S309G	S	+	1	0	GPR32	55966594	1.000000	0.71417	0.986000	0.45419	0.093000	0.18481	5.062000	0.64326	0.165000	0.19558	0.260000	0.18958	AGC		0.547	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			4	81	0	0	0	1	0	4	81				
NFS1	9054	broad.mit.edu	37	20	34263069	34263069	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34263069C>A	ENST00000374092.4	-	8	916	c.846G>T	c.(844-846)caG>caT	p.Q282H	NFS1_ENST00000540053.1_Missense_Mutation_p.Q80H|RP1-309K20.6_ENST00000541176.2_5'Flank|NFS1_ENST00000541387.1_Missense_Mutation_p.Q231H|NFS1_ENST00000397425.1_Missense_Mutation_p.Q222H|NFS1_ENST00000374085.1_Missense_Mutation_p.Q222H|NFS1_ENST00000498084.1_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	282					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CCCCTCCACTCTGCAGGGCCT	0.592																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(844-846)caG>caT		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						26.0	27.0	27.0					20																	34263069		2203	4298	6501	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34263069C>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.846G>T	20.37:g.34263069C>A	ENSP00000363205:p.Gln282His					NFS1_ENST00000541387.1_Missense_Mutation_p.Q231H|NFS1_ENST00000374085.1_Missense_Mutation_p.Q222H|NFS1_ENST00000540053.1_Missense_Mutation_p.Q80H|NFS1_ENST00000397425.1_Missense_Mutation_p.Q222H	p.Q282H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		8	916	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		282					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.846G>T	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938386	0.73557	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	5.03	3.06	0.35304	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.265673	0.41500	D	0.000867	D	0.90045	0.6891	M	0.64630	1.985	0.58432	D	0.999998	D;D	0.67145	0.98;0.996	D;D	0.67231	0.917;0.95	D	0.88622	0.3163	10	0.87932	D	0	-3.9953	7.3993	0.26954	0.0:0.7139:0.1371:0.149	.	231;282	F5GYK5;Q9Y697	.;NFS1_HUMAN	H	282;222;222;80;231	ENSP00000363205:Q282H;ENSP00000363198:Q222H;ENSP00000380570:Q222H;ENSP00000438594:Q80H;ENSP00000440897:Q231H	ENSP00000363198:Q222H	Q	-	3	2	NFS1	33726483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.505000	0.45424	0.682000	0.31407	0.462000	0.41574	CAG		0.592	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		7	14	1	0	0.00198382	1	0.00210581	7	14				
CDC23	8697	broad.mit.edu	37	5	137527974	137527974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137527974G>A	ENST00000394886.2	-	11	1300	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	424					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTGGGCCCGTCTATAATAA	0.438																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1270-1272)Cgg>Tgg		cell division cycle 23							71.0	72.0	72.0					5																	137527974		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137527974G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1270C>T	5.37:g.137527974G>A	ENSP00000378350:p.Arg424Trp						p.R424W	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1300	-			424					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1270C>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444568	0.83993	.	.	ENSG00000094880	ENST00000394886	T	0.61158	0.13	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.054825	0.64402	D	0.000001	T	0.77785	0.4182	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.78871	-0.2033	10	0.87932	D	0	-14.7431	20.3736	0.98901	0.0:0.0:1.0:0.0	.	424	Q9UJX2	CDC23_HUMAN	W	424	ENSP00000378350:R424W	ENSP00000378350:R424W	R	-	1	2	CDC23	137555873	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.986000	0.63851	2.820000	0.97059	0.650000	0.86243	CGG		0.438	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			26	37	0	0	0	1	0	26	37				
SH3GLB1	51100	broad.mit.edu	37	1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87188228G>A	ENST00000370558.4	+	4	673	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	117	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(349-351)Gcc>Acc		SH3-domain GRB2-like endophilin B1							83.0	99.0	94.0					1																	87188228		2202	4299	6501	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87188228G>A	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.349G>A	1.37:g.87188228G>A	ENSP00000473267:p.Ala117Thr					SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T	p.A117T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	4	673	+		Lung NSC(277;0.209)	117			BAR.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.349G>A	CCDS710.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762167	0.69763	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.35789	1.29;1.29	5.73	5.73	0.89815	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	N	0.10916	0.065	0.80722	D	1	D;D;B	0.54964	0.969;0.969;0.136	P;P;B	0.56278	0.795;0.757;0.173	T	0.09997	-1.0649	10	0.33141	T	0.24	0.0912	19.8983	0.96975	0.0:0.0:1.0:0.0	.	17;117;117	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	T	117;17;117	ENSP00000441355:A17T;ENSP00000418744:A117T	ENSP00000212369:A117T	A	+	1	0	SH3GLB1	86960816	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.706000	0.98722	2.718000	0.92993	0.650000	0.86243	GCC		0.308	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		35	131	0	0	0	1	0	35	131				
ITPR3	3710	broad.mit.edu	37	6	33632961	33632961	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33632961C>T	ENST00000374316.5	+	14	2440	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	ITPR3_ENST00000605930.1_Silent_p.N460N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	460					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGAAACTCAACGAGGGCTTCA	0.577																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1378-1380)aaC>aaT		inositol 1,4,5-trisphosphate receptor, type 3							88.0	89.0	88.0					6																	33632961		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33632961C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1380C>T	6.37:g.33632961C>T						ITPR3_ENST00000605930.1_Silent_p.N460N	p.N460N			Q14573	ITPR3_HUMAN			14	2440	+			460					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.1380C>T	CCDS4783.1																																																																																				0.577	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		28	55	0	0	0	1	0	28	55				
ARF1	375	broad.mit.edu	37	1	228285651	228285651	+	Silent	SNP	C	C	G	rs199599231		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228285651C>G	ENST00000541182.1	+	5	745	c.483C>G	c.(481-483)acC>acG	p.T161T	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.T161T|ARF1_ENST00000272102.5_Silent_p.T161T|MIR3620_ENST00000584469.1_RNA|C1orf35_ENST00000472617.1_5'Flank	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	161					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTGCGCCACCAGCGGCGACG	0.617																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(481-483)acC>acG		ADP-ribosylation factor 1							71.0	64.0	67.0					1																	228285651		2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285651C>G	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.483C>G	1.37:g.228285651C>G						ARF1_ENST00000540651.1_Silent_p.T161T|ARF1_ENST00000272102.5_Silent_p.T161T|ARF1_ENST00000478424.1_3'UTR	p.T161T	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			5	745	+		Prostate(94;0.0405)	161					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.483C>G	CCDS1565.1																																																																																				0.617	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		13	22	0	0	0	1	0	13	22				
ACACB	32	broad.mit.edu	37	12	109577714	109577714	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109577714C>A	ENST00000338432.7	+	2	623	c.504C>A	c.(502-504)ggC>ggA	p.G168G	ACACB_ENST00000377854.5_Silent_p.G168G|ACACB_ENST00000377848.3_Silent_p.G168G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	168					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCATCCTGGGCTCTTTTGATG	0.607																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(502-504)ggC>ggA		acetyl-CoA carboxylase beta	Biotin(DB00121)						94.0	96.0	95.0					12																	109577714		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577714C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.504C>A	12.37:g.109577714C>A						ACACB_ENST00000377848.3_Silent_p.G168G|ACACB_ENST00000377854.5_Silent_p.G168G	p.G168G			O00763	ACACB_HUMAN			2	623	+			168					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.504C>A	CCDS31898.1																																																																																				0.607	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		29	61	1	0	1.80694e-10	1	2.22694e-10	29	61				
OGDH	4967	broad.mit.edu	37	7	44737297	44737297	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737297C>T	ENST00000222673.5	+	17	2316	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	OGDH_ENST00000543843.1_Silent_p.I709I|OGDH_ENST00000449767.1_Silent_p.I754I|OGDH_ENST00000444676.1_Silent_p.I773I|OGDH_ENST00000439616.2_Silent_p.I608I|OGDH_ENST00000447398.1_Silent_p.I769I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	758					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGTGTATCATCGACCAGTTCA	0.592																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2272-2274)atC>atT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						134.0	118.0	123.0					7																	44737297		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737297C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2274C>T	7.37:g.44737297C>T						OGDH_ENST00000449767.1_Silent_p.I754I|OGDH_ENST00000439616.2_Silent_p.I608I|OGDH_ENST00000444676.1_Silent_p.I773I|OGDH_ENST00000447398.1_Silent_p.I769I|OGDH_ENST00000543843.1_Silent_p.I709I	p.I758I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			17	2316	+			758					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2274C>T	CCDS34627.1																																																																																				0.592	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			29	69	0	0	0	1	0	29	69				
STK3	6788	broad.mit.edu	37	8	99718840	99718840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99718840G>A	ENST00000419617.2	-	6	679	c.539C>T	c.(538-540)aCt>aTt	p.T180I	STK3_ENST00000523601.1_Missense_Mutation_p.T208I	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCTATTACAGTATTGCGTTT	0.378																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(622-624)aCt>aTt		serine/threonine kinase 3							145.0	141.0	142.0					8																	99718840		1965	4195	6160	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99718840G>A	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.539C>T	8.37:g.99718840G>A	ENSP00000390500:p.Thr180Ile					STK3_ENST00000419617.2_Missense_Mutation_p.T180I	p.T208I	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	8	1022	-	Breast(36;2.4e-06)	Breast(495;0.106)	180			Protein kinase.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.623C>T	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577353	0.86645	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.16597	2.33;2.33	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.87578	0.96;0.998	T	0.41215	-0.9521	10	0.87932	D	0	.	17.7913	0.88553	0.0:0.0:1.0:0.0	.	180;208	Q13188;B3KYA7	STK3_HUMAN;.	I	180;208	ENSP00000390500:T180I;ENSP00000429744:T208I	ENSP00000390500:T180I	T	-	2	0	STK3	99788016	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.196000	0.70406	0.467000	0.42956	ACT		0.378	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		7	98	0	0	0	1	0	7	98				
CKAP2L	150468	broad.mit.edu	37	2	113496489	113496489	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113496489G>T	ENST00000302450.6	-	9	2227	c.2149C>A	c.(2149-2151)Ctg>Atg	p.L717M	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000541405.1_Missense_Mutation_p.L552M	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	717						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ACTTCTAACAGTTCATCAAGA	0.448																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1654-1656)Ctg>Atg		cytoskeleton associated protein 2-like							133.0	137.0	136.0					2																	113496489		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113496489G>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.2149C>A	2.37:g.113496489G>T	ENSP00000305204:p.Leu717Met					CKAP2L_ENST00000302450.6_Missense_Mutation_p.L717M|NT5DC4_ENST00000327581.4_Intron	p.L552M			Q8IYA6	CKP2L_HUMAN			9	2177	-			717					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.1654C>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986110	0.74589	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.43294	0.95;0.95	5.45	5.45	0.79879	.	0.065345	0.64402	D	0.000007	T	0.66056	0.2751	M	0.75615	2.305	0.39283	D	0.964592	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68853	-0.5299	10	0.66056	D	0.02	-11.4811	17.5912	0.87997	0.0:0.0:1.0:0.0	.	306;717	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	M	552;717	ENSP00000438763:L552M;ENSP00000305204:L717M	ENSP00000305204:L717M	L	-	1	2	CKAP2L	113212960	0.998000	0.40836	0.160000	0.22671	0.886000	0.51366	2.997000	0.49457	2.941000	0.99782	0.655000	0.94253	CTG		0.448	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		53	89	1	0	2.0833e-19	1	2.72694e-19	53	89				
ITGB3	3690	broad.mit.edu	37	17	45367564	45367564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45367564T>C	ENST00000559488.1	+	8	1065	c.1049T>C	c.(1048-1050)cTc>cCc	p.L350P	ITGB3_ENST00000435993.2_Missense_Mutation_p.L303P|ITGB3_ENST00000571680.1_Missense_Mutation_p.L350P|ITGB3_ENST00000560629.1_Silent_p.A338A	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	350	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TATAGTGAGCTCATCCCAGGG	0.493																																						ENST00000559488.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1048-1050)cTc>cCc		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						204.0	194.0	197.0					17																	45367564		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45367564T>C		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1049T>C	17.37:g.45367564T>C	ENSP00000452786:p.Leu350Pro					ITGB3_ENST00000571680.1_Missense_Mutation_p.L350P|ITGB3_ENST00000560629.1_Silent_p.A338A|ITGB3_ENST00000435993.2_Missense_Mutation_p.L303P	p.L350P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN			8	1065	+			350			VWFA.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1049T>C	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453599	0.84209	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.98012	-4.66	5.57	5.57	0.84162	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.059383	0.64402	D	0.000002	D	0.98963	0.9647	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99655	1.0992	10	0.87932	D	0	.	14.6884	0.69065	0.0:0.0:0.0:1.0	.	350;350	P05106;Q2YFE1	ITB3_HUMAN;.	P	350;303	ENSP00000407801:L303P	ENSP00000262017:L350P	L	+	2	0	C17orf57	42722563	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.112000	0.64535	0.379000	0.24179	CTC		0.493	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		36	72	0	0	0	1	0	36	72				
NOTCH4	4855	broad.mit.edu	37	6	32163319	32163319	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32163319A>T	ENST00000375023.3	-	30	6045	c.5907T>A	c.(5905-5907)ccT>ccA	p.P1969P	GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1969					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAAGGCAAGGAGGCGGGATCG	0.617																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5905-5907)ccT>ccA		notch 4							93.0	102.0	99.0					6																	32163319		1509	2708	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163319A>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5907T>A	6.37:g.32163319A>T							p.P1969P	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	6045	-			1969					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5907T>A	CCDS34420.1																																																																																				0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			9	66	0	0	0	1	0	9	66				
MCM2	4171	broad.mit.edu	37	3	127334738	127334738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127334738C>T	ENST00000265056.7	+	9	1706	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	488	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CATCTATGGTCATGAAGACAT	0.542																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1462-1464)Cat>Tat		minichromosome maintenance complex component 2							184.0	154.0	164.0					3																	127334738		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127334738C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1462C>T	3.37:g.127334738C>T	ENSP00000265056:p.His488Tyr						p.H488Y	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			9	1706	+			488			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1462C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100940	0.37048	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.11604	2.76	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	M	0.71296	2.17	0.80722	D	1	P;B;B	0.39181	0.663;0.208;0.208	B;B;B	0.42851	0.172;0.4;0.4	T	0.01639	-1.1306	10	0.62326	D	0.03	-28.9742	16.5262	0.84331	0.0:0.8692:0.1308:0.0	.	538;358;488	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	Y	488;392;538	ENSP00000265056:H488Y	ENSP00000265056:H488Y	H	+	1	0	MCM2	128817428	1.000000	0.71417	0.750000	0.31169	0.007000	0.05969	7.152000	0.77419	1.324000	0.45282	-0.165000	0.13383	CAT		0.542	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			4	81	0	0	0	1	0	4	81				
GPATCH11	253635	broad.mit.edu	37	2	37319369	37319369	+	Nonsense_Mutation	SNP	C	C	T	rs200868969		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37319369C>T	ENST00000608836.1	+	6	644	c.499C>T	c.(499-501)Cga>Tga	p.R167*	GPATCH11_ENST00000281932.5_Nonsense_Mutation_p.R64*|GPATCH11_ENST00000409774.1_Nonsense_Mutation_p.R193*	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	167							nucleic acid binding (GO:0003676)										AAGAAGCCAGCGAGCCTGTCA	0.373																																						ENST00000409774.1																			0											c.(499-501)Cga>Tga		G patch domain containing 11		C	stop/ARG	0,4406		0,0,2203	37.0	39.0	38.0		499	2.3	1.0	2		38	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	CCDC75	NM_174931.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		167/260	37319369	1,13005	2203	4300	6503	SO:0001587	stop_gained	253635							g.chr2:37319369C>T	AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"""G patch domain containing"""	26768	protein-coding gene	gene with protein product	"""centromere protein Y"""		"""coiled-coil domain containing 75"""	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.499C>T	2.37:g.37319369C>T	ENSP00000476383:p.Arg167*					GPATCH11_ENST00000281932.5_Nonsense_Mutation_p.R64*	p.R167*	NM_174931.2	NP_777591.2					6	644	+								A8K0D9|B7Z2G4|B8ZZ44	Nonsense_Mutation	SNP	ENST00000608836.1	37	c.499C>T	CCDS1785.2	.	.	.	.	.	.	.	.	.	.	C	35	5.592658	0.96602	0.0	1.16E-4	ENSG00000152133	ENST00000409774;ENST00000281932	.	.	.	5.52	2.32	0.28847	.	0.088470	0.44902	D	0.000404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4417	12.971	0.58513	0.5189:0.481:0.0:0.0	.	.	.	.	X	167;64	.	ENSP00000281932:R64X	R	+	1	2	CCDC75	37172873	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.501000	0.22578	0.653000	0.30826	0.650000	0.86243	CGA		0.373	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_174931		4	7	0	0	0	1	0	4	7				
PCDHB2	56133	broad.mit.edu	37	5	140476357	140476357	+	Silent	SNP	C	C	T	rs371660491		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476357C>T	ENST00000194155.4	+	1	2131	c.1983C>T	c.(1981-1983)caC>caT	p.H661H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCACGTGCTCCTGG	0.711																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1981-1983)caC>caT									40.0	40.0	40.0					5																	140476357		2105	4139	6244	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476357C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1983C>T	5.37:g.140476357C>T							p.H661H	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2131	+			661			Cadherin 6.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1983C>T	CCDS4244.1																																																																																				0.711	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		7	75	0	0	0	1	0	7	75				
RASA2	5922	broad.mit.edu	37	3	141292883	141292883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141292883G>A	ENST00000452898.1	+	14	1492	c.1457G>A	c.(1456-1458)aGg>aAg	p.R486K	RASA2_ENST00000286364.3_Missense_Mutation_p.R486K	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	486	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TATTCTCTAAGGCAGATGGCT	0.328																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1456-1458)aGg>aAg		RAS p21 protein activator 2							84.0	84.0	84.0					3																	141292883		2202	4299	6501	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141292883G>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1457G>A	3.37:g.141292883G>A	ENSP00000391677:p.Arg486Lys					RASA2_ENST00000452898.1_Missense_Mutation_p.R486K	p.R486K			Q15283	RASA2_HUMAN			14	1492	+			486			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1457G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.329508	0.95733	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.80304	-1.36;-1.36	5.66	5.66	0.87406	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.88749	0.6521	M	0.64997	1.995	0.80722	D	1	D;P;P;P	0.76494	0.999;0.95;0.938;0.95	D;D;P;D	0.87578	0.998;0.921;0.872;0.921	D	0.86954	0.2087	10	0.39692	T	0.17	.	19.7398	0.96223	0.0:0.0:1.0:0.0	.	78;486;486;486	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	K	486;486;78	ENSP00000286364:R486K;ENSP00000391677:R486K	ENSP00000286364:R486K	R	+	2	0	RASA2	142775573	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.476000	0.97823	2.665000	0.90641	0.561000	0.74099	AGG		0.328	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		14	23	0	0	0	1	0	14	23				
TEP1	7011	broad.mit.edu	37	14	20852291	20852291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20852291C>T	ENST00000262715.5	-	24	3480	c.3440G>A	c.(3439-3441)cGc>cAc	p.R1147H	TEP1_ENST00000556935.1_Missense_Mutation_p.R1039H|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1147					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGAAGAAGGCGTGGCCGGGC	0.647																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3439-3441)cGc>cAc		telomerase-associated protein 1							61.0	62.0	62.0					14																	20852291		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852291C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3440G>A	14.37:g.20852291C>T	ENSP00000262715:p.Arg1147His					TEP1_ENST00000556935.1_Missense_Mutation_p.R1039H	p.R1147H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	24	3480	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1147					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.3440G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234627	0.39498	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.81078	-1.45;-1.45	5.62	3.81	0.43845	.	0.442058	0.24828	N	0.035277	T	0.69762	0.3147	L	0.36672	1.1	0.80722	D	1	B;B;B	0.20887	0.049;0.049;0.029	B;B;B	0.14578	0.011;0.011;0.005	T	0.62959	-0.6743	10	0.42905	T	0.14	-1.9775	8.6036	0.33760	0.0:0.824:0.0:0.176	.	1039;497;1147	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	H	1147;1147;1039	ENSP00000262715:R1147H;ENSP00000452574:R1039H	ENSP00000262715:R1147H	R	-	2	0	TEP1	19922131	0.974000	0.33945	0.938000	0.37757	0.861000	0.49209	0.824000	0.27379	0.735000	0.32537	0.655000	0.94253	CGC		0.647	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		24	31	0	0	0	1	0	24	31				
UBE2Q2	92912	broad.mit.edu	37	15	76165893	76165893	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76165893G>T	ENST00000267938.4	+	5	954	c.572G>T	c.(571-573)aGg>aTg	p.R191M	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.R191M|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.R156M|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.R175M	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	191					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AAGACTCAAAGGCAAGACCAT	0.343																																						ENST00000267938.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						c.(571-573)aGg>aTg		ubiquitin-conjugating enzyme E2Q family member 2							87.0	88.0	87.0					15																	76165893		2197	4294	6491	SO:0001583	missense	92912				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr15:76165893G>T	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.572G>T	15.37:g.76165893G>T	ENSP00000267938:p.Arg191Met					UBE2Q2_ENST00000569423.1_Missense_Mutation_p.R156M|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.R175M|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.R191M	p.R191M	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN			5	954	+			191					B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	ENST00000267938.4	37	c.572G>T	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360114	0.82353	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.79011	2.435	0.80722	D	1	P;P;P;P	0.47841	0.901;0.882;0.83;0.761	P;B;B;B	0.45681	0.49;0.265;0.323;0.354	T	0.76435	-0.2960	9	0.66056	D	0.02	.	16.8832	0.86069	0.0:0.0:1.0:0.0	.	175;191;175;191	E9PHD0;C9JX13;B7Z3Q2;Q8WVN8	.;.;.;UB2Q2_HUMAN	M	191;191;175	.	ENSP00000267938:R191M	R	+	2	0	UBE2Q2	73952948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.751000	0.98889	2.387000	0.81309	0.637000	0.83480	AGG		0.343	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		22	36	1	0	7.87624e-14	1	1.00187e-13	22	36				
TTN	7273	broad.mit.edu	37	2	179494085	179494085	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494085G>A	ENST00000591111.1	-	190	39668	c.39444C>T	c.(39442-39444)taC>taT	p.Y13148Y	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.Y5724Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.Y5849Y|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.Y12221Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.Y14789Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.Y5916Y			Q8WZ42	TITIN_HUMAN	titin	13148	Ig-like 87.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATATCTTCGTAGGAGAGCT	0.488																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44365-44367)taC>taT		titin							126.0	128.0	128.0					2																	179494085		1965	4168	6133	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179494085G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39444C>T	2.37:g.179494085G>A						TTN_ENST00000460472.2_Silent_p.Y5724Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.Y12221Y|TTN_ENST00000359218.5_Silent_p.Y5849Y|TTN_ENST00000342175.6_Silent_p.Y5916Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.Y13148Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.Y14789Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	44591	-			13148			Fibronectin type-III 6.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.44367C>T																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	49	0	0	0	1	0	4	49				
SPAG7	9552	broad.mit.edu	37	17	4863040	4863040	+	Intron	SNP	G	G	A	rs376034939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4863040G>A	ENST00000206020.3	-	6	642				SPAG7_ENST00000573366.1_Intron|SPAG7_ENST00000575142.1_Missense_Mutation_p.R186W	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ACCCCCAGCCGCACTGTGGCC	0.622																																						ENST00000575142.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(556-558)Cgg>Tgg		sperm associated antigen 7		G		0,4256		0,0,2128	114.0	125.0	121.0			-7.7	0.0	17		121	1,8461		0,1,4230	no	intron	SPAG7	NM_004890.2		0,1,6358	AA,AG,GG		0.0118,0.0,0.0079			4863040	1,12717	2128	4231	6359	SO:0001627	intron_variant	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863040G>A	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.574+14C>T	17.37:g.4863040G>A						SPAG7_ENST00000206020.3_Intron|SPAG7_ENST00000573366.1_Intron	p.R186W			O75391	SPAG7_HUMAN			6	574	-			0					Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	c.556C>T	CCDS42240.1																																																																																				0.622	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		9	119	0	0	0	1	0	9	119				
IRF1	3659	broad.mit.edu	37	5	131823680	131823680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131823680G>A	ENST00000245414.4	-	3	383	c.125C>T	c.(124-126)gCc>gTc	p.A42V	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.A42V	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	42					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCATGCTTGGCAGCATGCTT	0.537																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(124-126)gCc>gTc		interferon regulatory factor 1							111.0	87.0	95.0					5																	131823680		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131823680G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.125C>T	5.37:g.131823680G>A	ENSP00000245414:p.Ala42Val					IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.A42V	p.A42V	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	3	383	-		all_cancers(142;0.026)|Breast(839;0.198)	42					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.125C>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	36	5.732084	0.96856	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	5.35	5.35	0.76521	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.90082	3.085	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72075	0.976;0.976	D	0.99716	1.1008	10	0.87932	D	0	-21.7872	19.0601	0.93090	0.0:0.0:1.0:0.0	.	42;42	Q5FBX3;P10914	.;IRF1_HUMAN	V	42	ENSP00000245414:A42V;ENSP00000384406:A42V;ENSP00000405655:A42V;ENSP00000396318:A42V	ENSP00000245414:A42V	A	-	2	0	IRF1	131851579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.514000	0.84764	0.655000	0.94253	GCC		0.537	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		4	27	0	0	0	1	0	4	27				
SMO	6608	broad.mit.edu	37	7	128846053	128846053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128846053G>A	ENST00000249373.3	+	5	1263	c.983G>A	c.(982-984)gGt>gAt	p.G328D		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	328					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGATGGCTGGTGTGGTTTGG	0.557			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(982-984)gGt>gAt		smoothened, frizzled family receptor							345.0	286.0	306.0					7																	128846053		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128846053G>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.983G>A	7.37:g.128846053G>A	ENSP00000249373:p.Gly328Asp						p.G328D	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			5	1263	+			328					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.983G>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899400	0.52227	.	.	ENSG00000128602	ENST00000249373	D	0.83755	-1.76	5.54	5.54	0.83059	GPCR, family 2-like (1);	0.148108	0.64402	D	0.000009	D	0.90861	0.7129	M	0.82056	2.57	0.80722	D	1	B;D	0.71674	0.331;0.998	B;D	0.65684	0.247;0.937	D	0.91875	0.5511	10	0.87932	D	0	.	16.6424	0.85129	0.0:0.0:1.0:0.0	.	328;328	A4D1K5;Q99835	.;SMO_HUMAN	D	328	ENSP00000249373:G328D	ENSP00000249373:G328D	G	+	2	0	SMO	128633289	1.000000	0.71417	0.953000	0.39169	0.076000	0.17211	7.876000	0.87215	2.605000	0.88082	0.555000	0.69702	GGT		0.557	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		133	92	0	0	0	1	0	133	92				
FAM84B	157638	broad.mit.edu	37	8	127569239	127569239	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:127569239G>T	ENST00000304916.3	-	2	851	c.396C>A	c.(394-396)caC>caA	p.H132Q	FAM84B_ENST00000517458.1_5'Flank|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	132						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			ATACGGCCCAGTGCGGGTACT	0.647																																						ENST00000304916.3																			0				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(394-396)caC>caA		family with sequence similarity 84, member B							27.0	29.0	29.0					8																	127569239		2203	4295	6498	SO:0001583	missense	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569239G>T	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.396C>A	8.37:g.127569239G>T	ENSP00000302578:p.His132Gln					RP11-103H7.5_ENST00000524320.1_RNA	p.H132Q	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	851	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		132						Missense_Mutation	SNP	ENST00000304916.3	37	c.396C>A	CCDS6358.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677877	0.47886	.	.	ENSG00000168672	ENST00000304916	T	0.68025	-0.3	4.81	3.91	0.45181	.	0.098805	0.64402	D	0.000001	D	0.83585	0.5286	H	0.95712	3.71	0.50467	D	0.999875	D	0.61080	0.989	P	0.57152	0.814	D	0.87951	0.2723	10	0.87932	D	0	-34.831	13.2854	0.60241	0.0:0.0:0.8401:0.1599	.	132	Q96KN1	FA84B_HUMAN	Q	132	ENSP00000302578:H132Q	ENSP00000302578:H132Q	H	-	3	2	FAM84B	127638421	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	7.962000	0.87912	0.951000	0.37770	0.467000	0.42956	CAC		0.647	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		10	13	1	0	4.68919e-08	1	5.58064e-08	10	13				
DNMT1	1786	broad.mit.edu	37	19	10251517	10251517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10251517G>T	ENST00000340748.4	-	31	3650	c.3415C>A	c.(3415-3417)Ctg>Atg	p.L1139M	DNMT1_ENST00000359526.4_Missense_Mutation_p.L1155M|DNMT1_ENST00000540357.1_Missense_Mutation_p.L1139M|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1139	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGGGTCCGCAGCTTGGGCAGC	0.612																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(3415-3417)Ctg>Atg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						96.0	86.0	90.0					19																	10251517		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10251517G>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3415C>A	19.37:g.10251517G>T	ENSP00000345739:p.Leu1139Met					DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.L1139M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1155M	p.L1139M			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		31	3650	-			1139			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3415C>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435524	0.62955	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.47869	0.83;0.83;0.83	5.6	4.56	0.56223	.	0.238551	0.35096	N	0.003460	T	0.63224	0.2493	M	0.61703	1.905	0.40580	D	0.981387	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.65821	-0.6075	10	0.56958	D	0.05	.	10.5908	0.45308	0.1566:0.0:0.8434:0.0	.	1139;1155;1139	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	1155;1139;1139;1007	ENSP00000352516:L1155M;ENSP00000440457:L1139M;ENSP00000345739:L1139M	ENSP00000345739:L1139M	L	-	1	2	DNMT1	10112517	1.000000	0.71417	0.924000	0.36721	0.597000	0.36814	4.310000	0.59141	1.379000	0.46325	-0.137000	0.14449	CTG		0.612	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		33	60	1	0	2.19358e-23	1	2.90382e-23	33	60				
FAM69B	138311	broad.mit.edu	37	9	139617871	139617871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139617871C>T	ENST00000371692.4	+	5	1037	c.941C>T	c.(940-942)gCc>gTc	p.A314V	SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.A227V	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	314						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TTCAAGATGGCCGACCTGCAG	0.647																																						ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(679-681)gCc>gTc		family with sequence similarity 69, member B							36.0	35.0	35.0					9																	139617871		2203	4299	6502	SO:0001583	missense	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617871C>T		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.941C>T	9.37:g.139617871C>T	ENSP00000360757:p.Ala314Val					FAM69B_ENST00000371692.4_Missense_Mutation_p.A314V|SNHG7_ENST00000414282.1_RNA	p.A227V			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1779	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	314					Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	ENST00000371692.4	37	c.680C>T	CCDS7004.1	.	.	.	.	.	.	.	.	.	.	C	7.943	0.743200	0.15642	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.39592	1.07;1.08	5.29	3.44	0.39384	.	0.118165	0.64402	D	0.000007	T	0.21590	0.0520	L	0.27053	0.805	0.44660	D	0.997649	B	0.27166	0.17	B	0.26310	0.068	T	0.09207	-1.0685	10	0.02654	T	1	-32.2371	5.6227	0.17465	0.0:0.641:0.0:0.359	.	314	Q5VUD6	FA69B_HUMAN	V	314;227	ENSP00000360757:A314V;ENSP00000360756:A227V	ENSP00000360756:A227V	A	+	2	0	FAM69B	138737692	0.995000	0.38212	0.989000	0.46669	0.976000	0.68499	3.183000	0.50918	1.226000	0.43582	0.561000	0.74099	GCC		0.647	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		10	9	0	0	0	1	0	10	9				
C2CD3	26005	broad.mit.edu	37	11	73809210	73809210	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73809210G>A	ENST00000334126.7	-	16	3049	c.2823C>T	c.(2821-2823)ggC>ggT	p.G941G	C2CD3_ENST00000313663.7_Silent_p.G941G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	941					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CATTTTGGTGGCCTGAAAACA	0.458																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2821-2823)ggC>ggT		C2 calcium-dependent domain containing 3							94.0	96.0	95.0					11																	73809210		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73809210G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2823C>T	11.37:g.73809210G>A						C2CD3_ENST00000313663.7_Silent_p.G941G	p.G941G			Q4AC94	C2CD3_HUMAN			16	3049	-	Breast(11;4.16e-06)		941					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.2823C>T																																																																																					0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		39	41	0	0	0	1	0	39	41				
TAF1L	138474	broad.mit.edu	37	9	32630510	32630510	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32630510A>G	ENST00000242310.4	-	1	5157	c.5068T>C	c.(5068-5070)Ttg>Ctg	p.L1690L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1690					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGACAGACAAATTGCTCTCA	0.493																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(5068-5070)Ttg>Ctg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							193.0	173.0	180.0					9																	32630510		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630510A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5068T>C	9.37:g.32630510A>G							p.L1690L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5157	-			1690					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.5068T>C	CCDS35003.1																																																																																				0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			6	150	0	0	0	1	0	6	150				
NCAPD2	9918	broad.mit.edu	37	12	6639008	6639008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6639008C>T	ENST00000315579.5	+	29	4520	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	RP5-940J5.3_ENST00000537921.1_RNA|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1196C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCGAGGCCTCCGTAAGATGCT	0.532																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(3721-3723)Cgt>Tgt		non-SMC condensin I complex, subunit D2							97.0	94.0	95.0					12																	6639008		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6639008C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3721C>T	12.37:g.6639008C>T	ENSP00000325017:p.Arg1241Cys					NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1196C	p.R1241C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			29	4520	+			1241					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3721C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392558	0.83011	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.21734	2.27;1.99	5.56	5.56	0.83823	.	0.330842	0.34531	N	0.003897	T	0.38983	0.1061	L	0.47190	1.495	0.43029	D	0.994598	D;D	0.76494	0.999;0.998	P;P	0.59424	0.857;0.708	T	0.12142	-1.0559	10	0.87932	D	0	-5.7007	19.5263	0.95208	0.0:1.0:0.0:0.0	.	1196;1241	F5GZJ1;Q15021	.;CND1_HUMAN	C	1241;1196	ENSP00000325017:R1241C;ENSP00000444417:R1196C	ENSP00000325017:R1241C	R	+	1	0	NCAPD2	6509269	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	4.456000	0.60081	2.603000	0.88011	0.462000	0.41574	CGT		0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		32	56	0	0	0	1	0	32	56				
SLC12A5	57468	broad.mit.edu	37	20	44683580	44683580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44683580C>T	ENST00000454036.2	+	21	2823	c.2774C>T	c.(2773-2775)aCc>aTc	p.T925I	SLC12A5_ENST00000243964.3_Missense_Mutation_p.T902I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	925					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGCTTACACCTATGAGAAG	0.567																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2773-2775)aCc>aTc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						139.0	112.0	121.0					20																	44683580		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44683580C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2774C>T	20.37:g.44683580C>T	ENSP00000387694:p.Thr925Ile					SLC12A5_ENST00000243964.3_Missense_Mutation_p.T902I	p.T925I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			21	2850	+		Myeloproliferative disorder(115;0.0122)	925					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2774C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370651	0.82573	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.59502	0.26;0.26	4.08	4.08	0.47627	.	0.061947	0.64402	D	0.000004	T	0.76212	0.3956	M	0.84219	2.685	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.67382	0.951;0.929	T	0.81602	-0.0858	10	0.87932	D	0	.	15.4483	0.75253	0.0:1.0:0.0:0.0	.	925;902	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	I	925;902	ENSP00000387694:T925I;ENSP00000243964:T902I	ENSP00000243964:T902I	T	+	2	0	SLC12A5	44116987	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.615000	0.83006	2.098000	0.63641	0.455000	0.32223	ACC		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			7	14	0	0	0	1	0	7	14				
AGL	178	broad.mit.edu	37	1	100353658	100353658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100353658C>A	ENST00000294724.4	+	21	3284	c.2806C>A	c.(2806-2808)Ctt>Att	p.L936I	AGL_ENST00000361915.3_Missense_Mutation_p.L936I|AGL_ENST00000361522.4_Missense_Mutation_p.L919I|AGL_ENST00000370163.3_Missense_Mutation_p.L936I|AGL_ENST00000370165.3_Missense_Mutation_p.L936I|AGL_ENST00000370161.2_Missense_Mutation_p.L920I|AGL_ENST00000361302.3_Missense_Mutation_p.L920I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	936					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATGCAGGTCTTCAAGGTAA	0.418																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2806-2808)Ctt>Att		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							117.0	111.0	113.0					1																	100353658		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100353658C>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2806C>A	1.37:g.100353658C>A	ENSP00000294724:p.Leu936Ile					AGL_ENST00000370165.3_Missense_Mutation_p.L936I|AGL_ENST00000361915.3_Missense_Mutation_p.L936I|AGL_ENST00000361522.4_Missense_Mutation_p.L919I|AGL_ENST00000361302.3_Missense_Mutation_p.L920I|AGL_ENST00000370163.3_Missense_Mutation_p.L936I|AGL_ENST00000370161.2_Missense_Mutation_p.L920I	p.L936I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	21	3284	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	936					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2806C>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391818	0.83011	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.70842	2.15	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.99	D;D;P	0.63877	0.919;0.919;0.831	T	0.61865	-0.6975	10	0.51188	T	0.08	.	19.3984	0.94617	0.0:1.0:0.0:0.0	.	919;920;936	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	936;936;936;936;920;920;919	ENSP00000355106:L936I;ENSP00000359184:L936I;ENSP00000359182:L936I;ENSP00000294724:L936I;ENSP00000354971:L920I;ENSP00000359180:L920I;ENSP00000354635:L919I	ENSP00000294724:L936I	L	+	1	0	AGL	100126246	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.229000	0.58625	2.651000	0.90000	0.544000	0.68410	CTT		0.418	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		5	76	1	0	0.184627	1	0.186383	5	76				
ZNF791	163049	broad.mit.edu	37	19	12738655	12738655	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738655C>A	ENST00000343325.4	+	4	474	c.312C>A	c.(310-312)atC>atA	p.I104I	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Silent_p.I72I|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGTGTACTATCTGTGGAAAAG	0.433																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(310-312)atC>atA		zinc finger protein 791							158.0	151.0	153.0					19																	12738655		2203	4300	6503	SO:0001819	synonymous_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738655C>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.312C>A	19.37:g.12738655C>A						ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.I72I|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR	p.I104I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	474	+			104					B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	c.312C>A	CCDS12273.1																																																																																				0.433	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		16	111	1	0	0.000566183	1	0.000614449	16	111				
PHF8	23133	broad.mit.edu	37	X	54011402	54011402	+	Silent	SNP	G	G	A	rs377571096		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54011402G>A	ENST00000357988.5	-	18	2854	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	PHF8_ENST00000338154.6_Silent_p.N796N|PHF8_ENST00000322659.8_Silent_p.N779N|PHF8_ENST00000338946.6_Silent_p.N695N	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	832					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAGACTGGCGTTCTCCTCCT	0.587																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2386-2388)aaC>aaT		PHD finger protein 8							165.0	128.0	141.0					X																	54011402		2203	4300	6503	SO:0001819	synonymous_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011402G>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2496C>T	X.37:g.54011402G>A						PHF8_ENST00000322659.8_Silent_p.N779N|PHF8_ENST00000357988.5_Silent_p.N832N|PHF8_ENST00000338946.6_Silent_p.N695N	p.N796N	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2892	-			832			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	c.2388C>T	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.753|8.753	0.921686|0.921686	0.17982|0.17982	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000396282;ENST00000375189	.|.	.|.	.|.	5.61|5.61	-5.74|-5.74	0.02391|0.02391	.|.	.|.	.|.	.|.	.|.	T|T	0.58524|0.58524	0.2128|0.2128	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66224|0.66224	-0.5977|-0.5977	4|5	.|0.87932	.|D	.|0	-23.0844|-23.0844	8.3841|8.3841	0.32491|0.32491	0.4715:0.1528:0.3757:0.0|0.4715:0.1528:0.3757:0.0	.|.	.|.	.|.	.|.	C|M	560|700;272	.|.	.|ENSP00000364335:T272M	R|T	-|-	1|2	0|0	PHF8|PHF8	54028127|54028127	0.158000|0.158000	0.22850|0.22850	0.962000|0.962000	0.40283|0.40283	0.978000|0.978000	0.69477|0.69477	-1.406000|-1.406000	0.02490|0.02490	-0.788000|-0.788000	0.04504|0.04504	-0.395000|-0.395000	0.06472|0.06472	CGC|ACG		0.587	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		36	65	0	0	0	1	0	36	65				
MAP1S	55201	broad.mit.edu	37	19	17838652	17838652	+	Missense_Mutation	SNP	G	G	A	rs200408004		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17838652G>A	ENST00000324096.4	+	5	2610	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.R794H	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	820	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTCCCTCGCCACGACCCT	0.662																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2458-2460)cGc>cAc		microtubule-associated protein 1S							41.0	38.0	39.0					19																	17838652		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838652G>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2459G>A	19.37:g.17838652G>A	ENSP00000325313:p.Arg820His					MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.R794H	p.R820H	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	2610	+			820			Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2459G>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550433	0.27739	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18960	2.18;2.18	3.3	-0.544	0.11847	.	0.917767	0.09019	N	0.860412	T	0.09202	0.0227	N	0.17474	0.49	0.09310	N	0.999997	B;B	0.29862	0.04;0.259	B;B	0.14023	0.01;0.01	T	0.33292	-0.9874	10	0.23302	T	0.38	-9.5985	4.1091	0.10050	0.2648:0.3231:0.4121:0.0	.	794;820	B4DH53;Q66K74	.;MAP1S_HUMAN	H	820;794	ENSP00000325313:R820H;ENSP00000439243:R794H	ENSP00000325313:R820H	R	+	2	0	MAP1S	17699652	0.000000	0.05858	0.021000	0.16686	0.016000	0.09150	-0.089000	0.11180	0.148000	0.19059	-0.793000	0.03317	CGC		0.662	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		6	7	0	0	0	1	0	6	7				
ZNF767P	79970	broad.mit.edu	37	7	149317059	149317059	+	RNA	SNP	C	C	T	rs375058233		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149317059C>T	ENST00000463567.1	-	0	555					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			GGGGTCAGGGCGGCGCCAGTT	0.547																																						ENST00000463567.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5								zinc finger family member 767		C		0,4406		0,0,2203	79.0	77.0	78.0			1.9	0.2	7		78	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			149317059	1,13005	2203	4300	6503			79970							g.chr7:149317059C>T																													7.37:g.149317059C>T								NR_027788.1				OV - Ovarian serous cystadenocarcinoma(82;0.00434)		0	555	-	Melanoma(164;0.165)|Ovarian(565;0.177)							D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	ENST00000463567.1	37																																																																																						0.547	ZNF767-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352753.2			7	34	0	0	0	1	0	7	34				
TRIM62	55223	broad.mit.edu	37	1	33612935	33612935	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33612935T>C	ENST00000291416.5	-	5	1504	c.1271A>G	c.(1270-1272)cAa>cGa	p.Q424R	TRIM62_ENST00000543586.1_Missense_Mutation_p.Q303R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	424	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GAGCAAGCCTTGGTCATAGTC	0.567																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1270-1272)cAa>cGa		tripartite motif containing 62							123.0	111.0	115.0					1																	33612935		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612935T>C	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1271A>G	1.37:g.33612935T>C	ENSP00000291416:p.Gln424Arg					TRIM62_ENST00000543586.1_Missense_Mutation_p.Q303R	p.Q424R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1504	-		Myeloproliferative disorder(586;0.0393)	424			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1271A>G	CCDS376.1	.	.	.	.	.	.	.	.	.	.	T	5.344	0.248826	0.10130	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.68624	-0.34;-0.34	5.6	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.052820	0.64402	D	0.000001	T	0.40119	0.1104	N	0.02286	-0.61	0.33524	D	0.592802	B	0.20671	0.047	B	0.22880	0.042	T	0.46965	-0.9153	10	0.44086	T	0.13	.	9.5801	0.39481	0.0:0.0836:0.0:0.9164	.	424	Q9BVG3	TRI62_HUMAN	R	424;303	ENSP00000291416:Q424R;ENSP00000441173:Q303R	ENSP00000291416:Q424R	Q	-	2	0	TRIM62	33385522	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	3.447000	0.52936	0.952000	0.37798	0.402000	0.26972	CAA		0.567	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		34	44	0	0	0	1	0	34	44				
INADL	10207	broad.mit.edu	37	1	62262978	62262978	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62262978A>G	ENST00000371158.2	+	11	1394	c.1280A>G	c.(1279-1281)cAg>cGg	p.Q427R	INADL_ENST00000316485.6_Missense_Mutation_p.Q427R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	427	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGAACATTCAGGGTTTTGCC	0.408																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1279-1281)cAg>cGg		InaD-like (Drosophila)							217.0	194.0	202.0					1																	62262978		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62262978A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1280A>G	1.37:g.62262978A>G	ENSP00000360200:p.Gln427Arg					INADL_ENST00000316485.6_Missense_Mutation_p.Q427R	p.Q427R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			11	1394	+			427			PDZ 3.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1280A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479590	0.44044	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.24908	1.83;1.83	5.1	5.1	0.69264	PDZ/DHR/GLGF (4);	0.249526	0.32769	N	0.005678	T	0.38295	0.1035	L	0.28740	0.885	0.80722	D	1	D;D;D	0.71674	0.994;0.987;0.998	D;D;D	0.83275	0.996;0.995;0.985	T	0.11131	-1.0600	10	0.41790	T	0.15	.	14.2373	0.65934	1.0:0.0:0.0:0.0	.	427;427;427	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	R	427	ENSP00000360200:Q427R;ENSP00000326199:Q427R	ENSP00000255202:Q427R	Q	+	2	0	INADL	62035566	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	5.094000	0.64523	2.157000	0.67596	0.482000	0.46254	CAG		0.408	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	163	0	0	0	1	0	8	163				
UNC13C	440279	broad.mit.edu	37	15	54799345	54799345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54799345G>A	ENST00000260323.11	+	22	5332	c.5332G>A	c.(5332-5334)Gca>Aca	p.A1778T	UNC13C_ENST00000537900.1_Missense_Mutation_p.A1776T|UNC13C_ENST00000545554.1_Missense_Mutation_p.A1778T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1778	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCAGTATGCTGCAATTGTATC	0.313																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5332-5334)Gca>Aca		unc-13 homolog C (C. elegans)							90.0	84.0	86.0					15																	54799345		1839	4095	5934	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54799345G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5332G>A	15.37:g.54799345G>A	ENSP00000260323:p.Ala1778Thr					UNC13C_ENST00000260323.11_Missense_Mutation_p.A1778T|UNC13C_ENST00000537900.1_Missense_Mutation_p.A1776T	p.A1778T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	22	5332	+			1778			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5332G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446724	0.84101	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81821	-1.54;-1.54;-1.54	5.74	5.74	0.90152	Munc13 homology 1 (1);	0.222855	0.45361	D	0.000377	T	0.74359	0.3706	L	0.44542	1.39	0.49389	D	0.999786	P	0.43094	0.799	B	0.35039	0.194	T	0.76214	-0.3041	10	0.44086	T	0.13	.	18.9661	0.92697	0.0:0.0:1.0:0.0	.	1778	Q8NB66	UN13C_HUMAN	T	1778;1778;1776	ENSP00000260323:A1778T;ENSP00000438156:A1778T;ENSP00000442569:A1776T	ENSP00000260323:A1778T	A	+	1	0	UNC13C	52586637	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	7.780000	0.85658	2.733000	0.93635	0.558000	0.71614	GCA		0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		3	4	0	0	0	1	0	3	4				
DDX11	1663	broad.mit.edu	37	12	31236770	31236770	+	Silent	SNP	T	T	C	rs143234228		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31236770T>C	ENST00000407793.2	+	3	419	c.168T>C	c.(166-168)tgT>tgC	p.C56C	DDX11_ENST00000542838.1_Silent_p.C56C|DDX11_ENST00000545668.1_Silent_p.C56C|DDX11_ENST00000228264.6_Silent_p.C30C|DDX11_ENST00000350437.4_Silent_p.C56C|DDX11_ENST00000251758.5_Silent_p.C56C	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	56	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTCTTATTTGTGGGGCCCTCT	0.438										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(166-168)tgT>tgC		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11		T	,,	1,4403	2.1+/-5.4	0,1,2201	67.0	74.0	72.0		168,168,168	2.1	1.0	12	dbSNP_134	72	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DDX11	NM_004399.2,NM_030653.3,NM_152438.1	,,	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	,,	56/857,56/907,56/971	31236770	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31236770T>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.168T>C	12.37:g.31236770T>C		Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Silent_p.C56C|DDX11_ENST00000542838.1_Silent_p.C56C|DDX11_ENST00000407793.2_Silent_p.C56C|DDX11_ENST00000228264.6_Silent_p.C30C|DDX11_ENST00000350437.4_Silent_p.C56C	p.C56C			Q96FC9	DDX11_HUMAN			3	419	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		56			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.168T>C	CCDS44856.1																																																																																				0.438	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		6	58	0	0	0	1	0	6	58				
LTB4R2	56413	broad.mit.edu	37	14	24780618	24780618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24780618G>A	ENST00000528054.1	+	1	2458	c.841G>A	c.(841-843)Gca>Aca	p.A281T	LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR|LTB4R_ENST00000396789.4_5'Flank|LTB4R_ENST00000345363.3_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000336557.5_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	281					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711																																						ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(841-843)Gca>Aca		leukotriene B4 receptor 2							19.0	23.0	22.0					14																	24780618		2202	4293	6495	SO:0001583	missense	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780618G>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.841G>A	14.37:g.24780618G>A	ENSP00000432146:p.Ala281Thr					CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T	p.A281T			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2458	+			281					Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37	c.841G>A		.	.	.	.	.	.	.	.	.	.	G	11.72	1.723273	0.30503	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.317641	0.21265	U	0.077403	T	0.72835	0.3510	L	0.43152	1.355	0.24632	N	0.993617	D	0.71674	0.998	P	0.60473	0.875	T	0.62369	-0.6869	10	0.22706	T	0.39	.	10.4248	0.44371	0.0:0.0:0.805:0.195	.	281	Q9NPC1	LT4R2_HUMAN	T	281;250;250;250	ENSP00000432146:A281T;ENSP00000433290:A250T;ENSP00000445772:A250T;ENSP00000434760:A250T	ENSP00000337731:A281T	A	+	1	0	LTB4R2	23850458	0.002000	0.14202	0.217000	0.23759	0.054000	0.15201	0.923000	0.28757	2.162000	0.67917	0.491000	0.48974	GCA		0.711	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			10	15	0	0	0	1	0	10	15				
KIAA1462	57608	broad.mit.edu	37	10	30317929	30317929	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30317929C>A	ENST00000375377.1	-	3	1249	c.1148G>T	c.(1147-1149)aGc>aTc	p.S383I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	383	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGCTGACCGCTGGCCCCAGC	0.627																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1147-1149)aGc>aTc		KIAA1462							68.0	73.0	71.0					10																	30317929		2033	4180	6213	SO:0001583	missense	57608							g.chr10:30317929C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1148G>T	10.37:g.30317929C>A	ENSP00000364526:p.Ser383Ile						p.S383I	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1249	-			383			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1148G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998067	0.74818	.	.	ENSG00000165757	ENST00000375377	T	0.13901	2.55	4.93	1.95	0.26073	.	0.935399	0.09154	N	0.841069	T	0.11452	0.0279	L	0.47716	1.5	0.09310	N	1	P	0.41080	0.737	B	0.38458	0.274	T	0.27331	-1.0077	10	0.52906	T	0.07	-0.1489	2.2406	0.04018	0.1368:0.5148:0.133:0.2154	.	383	Q9P266	K1462_HUMAN	I	383	ENSP00000364526:S383I	ENSP00000364526:S383I	S	-	2	0	KIAA1462	30357935	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	0.811000	0.27198	0.113000	0.18004	0.561000	0.74099	AGC		0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		6	110	1	0	0.00116845	1	0.00124821	6	110				
TMF1	7110	broad.mit.edu	37	3	69079032	69079032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69079032C>T	ENST00000398559.2	-	11	2744	c.2528G>A	c.(2527-2529)aGt>aAt	p.S843N	CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.S846N|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	843					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGAAATCTACTGTTTTCCTG	0.403																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2536-2538)aGt>aAt		TATA element modulatory factor 1							194.0	189.0	190.0					3																	69079032		1880	4113	5993	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69079032C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2528G>A	3.37:g.69079032C>T	ENSP00000381567:p.Ser843Asn					CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.S843N|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	p.S846N	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	11	2783	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	843					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2537G>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876222	0.51801	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.50548	0.74;0.74	5.36	5.36	0.76844	.	0.222851	0.53938	D	0.000051	T	0.33876	0.0878	L	0.27053	0.805	0.31300	N	0.688422	P;P	0.41848	0.763;0.704	B;B	0.39185	0.293;0.201	T	0.38650	-0.9651	10	0.32370	T	0.25	-12.1289	11.4452	0.50118	0.1396:0.7257:0.1347:0.0	.	846;843	P82094-2;P82094	.;TMF1_HUMAN	N	843;846;759	ENSP00000381567:S843N;ENSP00000438706:S846N	ENSP00000348582:S759N	S	-	2	0	TMF1	69161722	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.572000	0.45999	2.657000	0.90304	0.585000	0.79938	AGT		0.403	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		41	63	0	0	0	1	0	41	63				
TECTA	7007	broad.mit.edu	37	11	120980054	120980054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120980054C>T	ENST00000392793.1	+	4	604	c.333C>T	c.(331-333)atC>atT	p.I111I	TECTA_ENST00000264037.2_Silent_p.I111I			O75443	TECTA_HUMAN	tectorin alpha	111	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGCGAGATCTATTACAGAG	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(331-333)atC>atT		tectorin alpha							106.0	101.0	102.0					11																	120980054		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980054C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.333C>T	11.37:g.120980054C>T						TECTA_ENST00000264037.2_Silent_p.I111I	p.I111I			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	604	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	111			NIDO.			Silent	SNP	ENST00000392793.1	37	c.333C>T	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		18	32	0	0	0	1	0	18	32				
C17orf64	124773	broad.mit.edu	37	17	58511092	58511092	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58511092C>T	ENST00000269127.4	+	0	950				RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64											breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GCTTAACTAGCTGGGCATTCC	0.403																																						ENST00000588627.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58511092C>T	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171		17.37:g.58511092C>T														0	2265	-								Q8IY87	RNA	SNP	ENST00000269127.4	37		CCDS32698.2																																																																																				0.403	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		11	14	0	0	0	1	0	11	14				
ENPP1	5167	broad.mit.edu	37	6	132211485	132211485	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132211485G>T	ENST00000360971.2	+	25	2632	c.2612G>T	c.(2611-2613)gGg>gTg	p.G871V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	871	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCCTAGCATGGGAAGCATGAC	0.398																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2611-2613)gGg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						112.0	106.0	108.0					6																	132211485		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132211485G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2612G>T	6.37:g.132211485G>T	ENSP00000354238:p.Gly871Val						p.G871V	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	25	2632	+	Breast(56;0.0505)		871			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2612G>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889152	0.52014	.	.	ENSG00000197594	ENST00000360971	T	0.72942	-0.7	5.73	3.01	0.34805	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.062815	0.64402	D	0.000005	T	0.70745	0.3259	M	0.80847	2.515	0.80722	D	1	P	0.42248	0.774	P	0.52823	0.71	T	0.70565	-0.4837	10	0.42905	T	0.14	-1.0512	10.7238	0.46055	0.205:0.0:0.795:0.0	.	871	P22413	ENPP1_HUMAN	V	871	ENSP00000354238:G871V	ENSP00000354238:G871V	G	+	2	0	ENPP1	132253178	0.883000	0.30277	0.678000	0.29963	0.579000	0.36224	2.320000	0.43797	0.363000	0.24346	0.585000	0.79938	GGG		0.398	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			9	76	1	0	3.86212e-05	1	4.30401e-05	9	76				
DNAH9	1770	broad.mit.edu	37	17	11872633	11872633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11872633A>G	ENST00000262442.4	+	69	13318	c.13250A>G	c.(13249-13251)gAg>gGg	p.E4417G	DNAH9_ENST00000454412.2_Missense_Mutation_p.E4341G|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Missense_Mutation_p.E729G|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4417					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCATTACAGAGGCAAAGCTG	0.522																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13249-13251)gAg>gGg		dynein, axonemal, heavy chain 9							121.0	111.0	115.0					17																	11872633		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872633A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13250A>G	17.37:g.11872633A>G	ENSP00000262442:p.Glu4417Gly					DNAH9_ENST00000454412.2_Missense_Mutation_p.E4341G|DNAH9_ENST00000396001.2_Missense_Mutation_p.E729G|RP11-1096G20.5_ENST00000580270.1_RNA	p.E4417G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	69	13318	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4417					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13250A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739973	0.69304	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10005	2.92;2.92;2.92	4.75	4.75	0.60458	Dynein heavy chain (1);	0.382752	0.28589	N	0.014815	T	0.48447	0.1500	H	0.99143	4.445	0.47245	D	0.999368	D	0.55605	0.972	P	0.59643	0.861	T	0.71255	-0.4647	10	0.72032	D	0.01	.	14.4208	0.67183	1.0:0.0:0.0:0.0	.	4417	Q9NYC9	DYH9_HUMAN	G	4417;4341;2923;729	ENSP00000262442:E4417G;ENSP00000414874:E4341G;ENSP00000379323:E729G	ENSP00000262442:E4417G	E	+	2	0	DNAH9	11813358	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	7.156000	0.77453	1.993000	0.58246	0.383000	0.25322	GAG		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	82	0	0	0	1	0	6	82				
MPZL1	9019	broad.mit.edu	37	1	167757092	167757092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757092C>T	ENST00000359523.2	+	6	946	c.744C>T	c.(742-744)ggC>ggT	p.G248G	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Silent_p.G98G	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	248					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.G248G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ACCACTCCGGCGGACATCACA	0.463																																						ENST00000359523.2																			1	Substitution - coding silent(1)	p.G248G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(742-744)ggC>ggT		myelin protein zero-like 1							105.0	97.0	100.0					1																	167757092		2203	4300	6503	SO:0001819	synonymous_variant	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167757092C>T	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.744C>T	1.37:g.167757092C>T						MPZL1_ENST00000392121.3_Silent_p.G98G|MPZL1_ENST00000403379.3_3'UTR	p.G248G	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN			6	946	+	all_hematologic(923;0.215)		248					B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Silent	SNP	ENST00000359523.2	37	c.744C>T	CCDS1264.1																																																																																				0.463	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		14	23	0	0	0	1	0	14	23				
MECOM	2122	broad.mit.edu	37	3	168834464	168834464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834464G>A	ENST00000464456.1	-	7	1832	c.632C>T	c.(631-633)gCt>gTt	p.A211V	MECOM_ENST00000468789.1_Missense_Mutation_p.A211V|MECOM_ENST00000433243.2_Missense_Mutation_p.A212V|MECOM_ENST00000264674.3_Missense_Mutation_p.A276V|MECOM_ENST00000460814.1_Missense_Mutation_p.A211V|MECOM_ENST00000392736.3_Missense_Mutation_p.A211V|MECOM_ENST00000494292.1_Missense_Mutation_p.A399V|MECOM_ENST00000472280.1_Missense_Mutation_p.A212V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAATCAGCATGCATGCG	0.418																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(631-633)gCt>gTt		MDS1 and EVI1 complex locus							434.0	355.0	382.0					3																	168834464		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834464G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.632C>T	3.37:g.168834464G>A	ENSP00000419770:p.Ala211Val					MECOM_ENST00000472280.1_Missense_Mutation_p.A212V|MECOM_ENST00000468789.1_Missense_Mutation_p.A211V|MECOM_ENST00000460814.1_Missense_Mutation_p.A211V|MECOM_ENST00000433243.2_Missense_Mutation_p.A212V|MECOM_ENST00000392736.3_Missense_Mutation_p.A211V|MECOM_ENST00000264674.3_Missense_Mutation_p.A276V|MECOM_ENST00000494292.1_Missense_Mutation_p.A399V	p.A211V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	1832	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.632C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090376	0.76756	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.60424	0.19;3.28;3.25;0.19;3.25;3.28;3.25;0.19	6.03	6.03	0.97812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.68201	0.2975	N	0.26042	0.785	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.987;0.999;0.999;0.999	D;P;D;D;D	0.85130	0.997;0.895;0.994;0.981;0.994	T	0.68838	-0.5303	10	0.59425	D	0.04	-9.7654	20.5568	0.99304	0.0:0.0:1.0:0.0	.	399;212;399;276;211	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	V	276;211;211;212;399;211;211;212	ENSP00000264674:A276V;ENSP00000376493:A211V;ENSP00000419770:A211V;ENSP00000420048:A212V;ENSP00000417899:A399V;ENSP00000419995:A211V;ENSP00000420466:A211V;ENSP00000394302:A212V	ENSP00000264674:A276V	A	-	2	0	MECOM	170317158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GCT		0.418	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		56	84	0	0	0	1	0	56	84				
HUNK	30811	broad.mit.edu	37	21	33371473	33371473	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33371473C>T	ENST00000270112.2	+	11	2481	c.2121C>T	c.(2119-2121)gcC>gcT	p.A707A		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	707					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACATGGCCGATGGGGTCA	0.592																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(2119-2121)gcC>gcT		hormonally up-regulated Neu-associated kinase							65.0	71.0	69.0					21																	33371473		2203	4299	6502	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371473C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2121C>T	21.37:g.33371473C>T							p.A707A	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			11	2481	+			707						Silent	SNP	ENST00000270112.2	37	c.2121C>T	CCDS13610.1																																																																																				0.592	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		20	52	0	0	0	1	0	20	52				
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T	rs370756412	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445199C>T	ENST00000528231.1	-	6	1447	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000316356.4_Silent_p.S391S|SYTL2_ENST00000527523.1_Silent_p.S342S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													C|||	5	0.000998403	0.0	0.0	5008	,	,		19078	0.0		0.0	False		,,,				2504	0.0051					ENST00000316356.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1171-1173)tcG>tcA		synaptotagmin-like 2							145.0	140.0	142.0					11																	85445199		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445199C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1170G>A	11.37:g.85445199C>T						SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000528231.1_Silent_p.S390S	p.S391S			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1737	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	390					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.1173G>A	CCDS53688.1																																																																																				0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		9	125	0	0	0	1	0	9	125				
BEGAIN	57596	broad.mit.edu	37	14	101005175	101005175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101005175C>T	ENST00000355173.2	-	7	984	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	BEGAIN_ENST00000443071.2_Missense_Mutation_p.A305T|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.A241T	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	305						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCGACGTGGCGCTGAAGCTG	0.692																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(721-723)Gcc>Acc		brain-enriched guanylate kinase-associated							31.0	30.0	31.0					14																	101005175		2198	4298	6496	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101005175C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.913G>A	14.37:g.101005175C>T	ENSP00000347301:p.Ala305Thr					BEGAIN_ENST00000443071.2_Missense_Mutation_p.A305T|BEGAIN_ENST00000355173.2_Missense_Mutation_p.A305T	p.A241T			Q9BUH8	BEGIN_HUMAN			5	4125	-		Melanoma(154;0.212)	305					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.721G>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127348	0.77549	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.47	4.47	0.54385	.	0.218004	0.38436	N	0.001683	T	0.57770	0.2076	L	0.44542	1.39	0.39899	D	0.973878	D	0.59767	0.986	P	0.47705	0.555	T	0.65187	-0.6229	9	0.54805	T	0.06	.	17.1046	0.86659	0.0:1.0:0.0:0.0	.	305	Q9BUH8	BEGIN_HUMAN	T	305;241;305	.	ENSP00000347301:A305T	A	-	1	0	BEGAIN	100074928	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.924000	0.70054	2.036000	0.60181	0.462000	0.41574	GCC		0.692	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		4	5	0	0	0	1	0	4	5				
SART1	9092	broad.mit.edu	37	11	65745328	65745328	+	Silent	SNP	C	C	T	rs149311843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65745328C>T	ENST00000312397.5	+	17	2222	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	710					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACGTTAAGATCGAATACGTGG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18318	0.0		0.0	False		,,,				2504	0.0					ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(2128-2130)atC>atT		squamous cell carcinoma antigen recognized by T cells		C		5,4397	9.9+/-24.2	0,5,2196	79.0	68.0	72.0		2130	-10.2	0.0	11	dbSNP_134	72	0,8592		0,0,4296	no	coding-synonymous	SART1	NM_005146.4		0,5,6492	TT,TC,CC		0.0,0.1136,0.0385		710/801	65745328	5,12989	2201	4296	6497	SO:0001819	synonymous_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65745328C>T	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2130C>T	11.37:g.65745328C>T							p.I710I	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN			17	2222	+			710					A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	c.2130C>T	CCDS31611.1																																																																																				0.612	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			6	17	0	0	0	1	0	6	17				
VRTN	55237	broad.mit.edu	37	14	74824284	74824284	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74824284G>A	ENST00000256362.4	+	2	1039	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	266					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACTCTCATCGCCGGCCAAGA	0.642																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(796-798)tcG>tcA		vertebrae development associated							39.0	39.0	39.0					14																	74824284		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824284G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.798G>A	14.37:g.74824284G>A							p.S266S	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1039	+			266					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.798G>A	CCDS9830.1																																																																																				0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		16	29	0	0	0	1	0	16	29				
ANAPC2	29882	broad.mit.edu	37	9	140074825	140074825	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140074825G>A	ENST00000323927.2	-	10	1702	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCGGCGGGAGTCCGCCATGT	0.667																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1696-1698)gaC>gaT		anaphase promoting complex subunit 2							32.0	33.0	33.0					9																	140074825		2203	4299	6502	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074825G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1698C>T	9.37:g.140074825G>A							p.D566D	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1702	-	all_cancers(76;0.0926)		566					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.1698C>T	CCDS7033.1																																																																																				0.667	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		13	26	0	0	0	1	0	13	26				
DNAH5	1767	broad.mit.edu	37	5	13758996	13758996	+	Missense_Mutation	SNP	C	C	T	rs200012281		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13758996C>T	ENST00000265104.4	-	61	10482	c.10378G>A	c.(10378-10380)Gtg>Atg	p.V3460M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3460	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTGCACCACGTCAAGTTCC	0.547									Kartagener syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		20799	0.0		0.0	False		,,,				2504	0.0					ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10378-10380)Gtg>Atg		dynein, axonemal, heavy chain 5		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	196.0	176.0	183.0		10378	4.0	0.9	5		183	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	3460/4625	13758996	1,13005	2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13758996C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10378G>A	5.37:g.13758996C>T	ENSP00000265104:p.Val3460Met						p.V3460M	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			61	10482	-	Lung NSC(4;0.00476)		3460			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10378G>A	CCDS3882.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.72	2.620578	0.46736	2.27E-4	0.0	ENSG00000039139	ENST00000265104	T	0.74315	-0.83	5.78	4.0	0.46444	Dynein heavy chain, coiled coil stalk (1);	0.265452	0.37348	N	0.002132	T	0.68641	0.3023	L	0.38175	1.15	0.31353	N	0.682292	P	0.47409	0.895	P	0.49047	0.599	T	0.71241	-0.4651	10	0.45353	T	0.12	.	8.0768	0.30720	0.0:0.7379:0.0:0.2621	.	3460	Q8TE73	DYH5_HUMAN	M	3460	ENSP00000265104:V3460M	ENSP00000265104:V3460M	V	-	1	0	DNAH5	13811996	0.813000	0.29090	0.890000	0.34922	0.514000	0.34195	0.916000	0.28651	1.454000	0.47793	0.650000	0.86243	GTG		0.547	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		43	82	0	0	0	1	0	43	82				
ACAP3	116983	broad.mit.edu	37	1	1231407	1231407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1231407G>A	ENST00000354700.5	-	17	1692	c.1490C>T	c.(1489-1491)gCc>gTc	p.A497V	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.A455V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	497	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGCTGCTGGCTGTGGGTTT	0.622																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1489-1491)gCc>gTc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							66.0	63.0	64.0					1																	1231407		2199	4298	6497	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1231407G>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1490C>T	1.37:g.1231407G>A	ENSP00000346733:p.Ala497Val					ACAP3_ENST00000353662.3_Missense_Mutation_p.A455V	p.A497V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			17	1692	-			497			Arf-GAP.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.1490C>T	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533228	0.64972	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.44881	0.91;0.91	4.18	4.18	0.49190	.	0.184854	0.48286	D	0.000194	T	0.44180	0.1281	M	0.64260	1.97	0.46458	D	0.999056	P;B	0.37141	0.584;0.4	B;B	0.37550	0.253;0.121	T	0.51244	-0.8730	10	0.48119	T	0.1	.	16.9597	0.86269	0.0:0.0:1.0:0.0	.	497;455	Q96P50;Q96P50-1	ACAP3_HUMAN;.	V	497;455	ENSP00000346733:A497V;ENSP00000321139:A455V	ENSP00000321139:A455V	A	-	2	0	ACAP3	1221270	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	9.656000	0.98514	2.278000	0.76064	0.305000	0.20034	GCC		0.622	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		9	32	0	0	0	1	0	9	32				
BMX	660	broad.mit.edu	37	X	15527469	15527469	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15527469A>T	ENST00000357607.2	+	3	344	c.156A>T	c.(154-156)aaA>aaT	p.K52N	BMX_ENST00000348343.6_Missense_Mutation_p.K52N|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000342014.6_Missense_Mutation_p.K52N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	52	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCAGCAGAAAAGGATCCATTG	0.403																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(154-156)aaA>aaT		BMX non-receptor tyrosine kinase							77.0	70.0	72.0					X																	15527469		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15527469A>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.156A>T	X.37:g.15527469A>T	ENSP00000350224:p.Lys52Asn					BMX_ENST00000348343.6_Missense_Mutation_p.K52N|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000342014.6_Missense_Mutation_p.K52N	p.K52N			P51813	BMX_HUMAN			3	344	+	Hepatocellular(33;0.183)		52			PH.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.156A>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	a	16.84	3.234325	0.58886	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.78126	-1.15;-1.15;-1.15	5.69	3.32	0.38043	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	D	0.87285	0.6139	M	0.90705	3.14	0.28329	N	0.921863	D	0.76494	0.999	D	0.72982	0.979	T	0.80216	-0.1474	10	0.87932	D	0	.	5.7826	0.18314	0.7923:0.0:0.2077:0.0	.	52	P51813	BMX_HUMAN	N	52	ENSP00000350224:K52N;ENSP00000308774:K52N;ENSP00000340082:K52N	ENSP00000340082:K52N	K	+	3	2	BMX	15437390	1.000000	0.71417	0.992000	0.48379	0.572000	0.35998	2.353000	0.44089	0.779000	0.33543	0.483000	0.47432	AAA		0.403	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		6	22	0	0	0	1	0	6	22				
UNC13C	440279	broad.mit.edu	37	15	54305610	54305610	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54305610G>T	ENST00000260323.11	+	1	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D|UNC13C_ENST00000545554.1_Missense_Mutation_p.E170D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	170					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGACGGGGAGCGTACTCTAC	0.473																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(508-510)gaG>gaT		unc-13 homolog C (C. elegans)							109.0	108.0	109.0					15																	54305610		1968	4140	6108	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305610G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.510G>T	15.37:g.54305610G>T	ENSP00000260323:p.Glu170Asp					UNC13C_ENST00000260323.11_Missense_Mutation_p.E170D|UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D	p.E170D			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	510	+			170					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.510G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380406	0.61845	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84730	-1.89;-1.89;-1.89	5.16	0.887	0.19200	.	.	.	.	.	D	0.82834	0.5123	L	0.32530	0.975	0.34435	D	0.698986	D	0.67145	0.996	P	0.55161	0.77	T	0.82665	-0.0345	9	0.52906	T	0.07	.	9.1843	0.37160	0.5977:0.0:0.4023:0.0	.	170	Q8NB66	UN13C_HUMAN	D	170	ENSP00000260323:E170D;ENSP00000438156:E170D;ENSP00000442569:E170D	ENSP00000260323:E170D	E	+	3	2	UNC13C	52092902	0.991000	0.36638	0.997000	0.53966	0.971000	0.66376	0.368000	0.20399	-0.119000	0.11830	0.655000	0.94253	GAG		0.473	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		16	81	1	0	1.45105e-14	1	1.85325e-14	16	81				
TTBK1	84630	broad.mit.edu	37	6	43251565	43251565	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43251565G>A	ENST00000259750.4	+	14	3170	c.3087G>A	c.(3085-3087)ccG>ccA	p.P1029P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1029					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGGTGTCCCCGCTGGAGCCAA	0.677																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(3085-3087)ccG>ccA		tau tubulin kinase 1							26.0	27.0	27.0					6																	43251565		2172	4212	6384	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251565G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3087G>A	6.37:g.43251565G>A							p.P1029P	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3170	+			1029					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.3087G>A	CCDS34455.1																																																																																				0.677	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			19	30	0	0	0	1	0	19	30				
RNH1	6050	broad.mit.edu	37	11	498076	498076	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:498076C>A	ENST00000534797.1	-	7	2429	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M	RNH1_ENST00000397604.3_Missense_Mutation_p.R341M|RNH1_ENST00000354420.2_Missense_Mutation_p.R341M|RNH1_ENST00000438658.2_Missense_Mutation_p.R341M|RNH1_ENST00000397615.2_Missense_Mutation_p.R341M|RNH1_ENST00000533410.1_Missense_Mutation_p.R341M|RNH1_ENST00000356187.5_Missense_Mutation_p.R341M|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000397614.1_Missense_Mutation_p.R341M			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGAGAAACCTGTTCTGGGC	0.642																																						ENST00000534797.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1021-1023)aGg>aTg		ribonuclease/angiogenin inhibitor 1							74.0	73.0	73.0					11																	498076		2203	4300	6503	SO:0001583	missense	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:498076C>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1022G>T	11.37:g.498076C>A	ENSP00000433999:p.Arg341Met					RNH1_ENST00000438658.2_Missense_Mutation_p.R341M|RNH1_ENST00000397615.2_Missense_Mutation_p.R341M|RNH1_ENST00000533410.1_Missense_Mutation_p.R341M|RNH1_ENST00000397604.3_Missense_Mutation_p.R341M|RNH1_ENST00000356187.5_Missense_Mutation_p.R341M|RNH1_ENST00000397614.1_Missense_Mutation_p.R341M|RNH1_ENST00000354420.2_Missense_Mutation_p.R341M	p.R341M			P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	2429	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	341					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	c.1022G>T	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	T	2.800	-0.249289	0.05867	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.96;0.61;0.61;0.61;0.61	3.73	-2.83	0.05769	.	0.949648	0.08537	N	0.931207	T	0.36110	0.0955	L	0.56769	1.78	0.09310	N	1	P	0.39311	0.667	B	0.31245	0.126	T	0.19063	-1.0317	10	0.48119	T	0.1	.	7.4188	0.27061	0.0:0.4932:0.2893:0.2175	.	341	P13489	RINI_HUMAN	M	341;341;341;341;135;341;341;341;341	ENSP00000433999:R341M;ENSP00000380738:R341M;ENSP00000380739:R341M;ENSP00000380729:R341M;ENSP00000432170:R135M;ENSP00000435594:R341M;ENSP00000416589:R341M;ENSP00000346402:R341M;ENSP00000348515:R341M	ENSP00000346402:R341M	R	-	2	0	RNH1	488076	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.725000	0.00382	-0.810000	0.04375	-0.361000	0.07541	AGG		0.642	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		5	55	1	0	0.184627	1	0.186383	5	55				
SLC12A5	57468	broad.mit.edu	37	20	44666019	44666019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44666019C>A	ENST00000454036.2	+	6	725	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L203M|SLC12A5_ENST00000372315.1_Missense_Mutation_p.L203M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	226					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCGAAATCCTGCTGGTAAG	0.577																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(676-678)Ctg>Atg		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						65.0	56.0	59.0					20																	44666019		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44666019C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.676C>A	20.37:g.44666019C>A	ENSP00000387694:p.Leu226Met					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L203M|SLC12A5_ENST00000372315.1_Missense_Mutation_p.L203M	p.L226M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			6	752	+		Myeloproliferative disorder(115;0.0122)	226					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.676C>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745431	0.89663	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.99070	-5.39;-5.39;-5.39	4.79	4.79	0.61399	Amino acid permease domain (1);	0.000000	0.64402	D	0.000003	D	0.99096	0.9689	M	0.75150	2.29	0.80722	D	1	D;P;P	0.63880	0.993;0.956;0.923	D;P;P	0.65773	0.938;0.771;0.85	D	0.99399	1.0927	10	0.56958	D	0.05	.	17.0107	0.86405	0.0:1.0:0.0:0.0	.	226;203;203	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	M	226;203;203	ENSP00000387694:L226M;ENSP00000361389:L203M;ENSP00000243964:L203M	ENSP00000243964:L203M	L	+	1	2	SLC12A5	44099426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.238000	0.51352	2.492000	0.84095	0.655000	0.94253	CTG		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			11	24	1	0	0.000978159	1	0.00105116	11	24				
OR5F1	338674	broad.mit.edu	37	11	55761668	55761668	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761668G>T	ENST00000278409.1	-	1	433	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	145					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCCCGGCTGCCATTTTTAG	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(433-435)gCa>gAa		olfactory receptor, family 5, subfamily F, member 1							42.0	44.0	44.0					11																	55761668		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761668G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.434C>A	11.37:g.55761668G>T	ENSP00000278409:p.Ala145Glu						p.A145E	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	433	-	Esophageal squamous(21;0.00448)		145					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.434C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422800	0.25639	.	.	ENSG00000149133	ENST00000278409	T	0.38401	1.14	3.03	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61223	0.2330	M	0.91510	3.215	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.46938	-0.9155	9	0.87932	D	0	.	5.8523	0.18699	0.248:0.0:0.752:0.0	.	145	O95221	OR5F1_HUMAN	E	145	ENSP00000278409:A145E	ENSP00000278409:A145E	A	-	2	0	OR5F1	55518244	0.000000	0.05858	0.933000	0.37362	0.102000	0.19082	0.082000	0.14847	1.422000	0.47177	0.297000	0.19635	GCA		0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		26	25	1	0	3.08376e-08	1	3.68275e-08	26	25				
MAP3K7CL	56911	broad.mit.edu	37	21	30532336	30532336	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30532336C>T	ENST00000399947.2	+	8	784	c.507C>T	c.(505-507)taC>taT	p.Y169Y	MAP3K7CL_ENST00000341618.4_Silent_p.Y169Y|MAP3K7CL_ENST00000399935.2_Silent_p.Y69Y|MAP3K7CL_ENST00000399934.1_Silent_p.Y69Y|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399925.1_Silent_p.Y69Y|MAP3K7CL_ENST00000399926.1_Silent_p.Y69Y|MAP3K7CL_ENST00000545939.1_Silent_p.Y63Y|MAP3K7CL_ENST00000399928.1_Silent_p.Y69Y|MAP3K7CL_ENST00000339024.4_Silent_p.Y69Y	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	169						cytosol (GO:0005829)|nucleus (GO:0005634)											CAGAAGAATACCATGAGGTCA	0.493																																						ENST00000399935.2																			0											c.(205-207)taC>taT		MAP3K7 C-terminal like							168.0	146.0	154.0					21																	30532336		2203	4300	6503	SO:0001819	synonymous_variant	56911							g.chr21:30532336C>T	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.507C>T	21.37:g.30532336C>T						MAP3K7CL_ENST00000341618.4_Silent_p.Y169Y|MAP3K7CL_ENST00000339024.4_Silent_p.Y69Y|MAP3K7CL_ENST00000399947.2_Silent_p.Y169Y|MAP3K7CL_ENST00000399928.1_Silent_p.Y69Y|MAP3K7CL_ENST00000399934.1_Silent_p.Y69Y|MAP3K7CL_ENST00000399926.1_Silent_p.Y69Y|MAP3K7CL_ENST00000399925.1_Silent_p.Y69Y|MAP3K7CL_ENST00000545939.1_Silent_p.Y63Y|MAP3K7CL_ENST00000286791.5_3'UTR	p.Y69Y							9	874	+								D3DSE0|Q8TCL9	Silent	SNP	ENST00000399947.2	37	c.207C>T	CCDS13584.1																																																																																				0.493	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		28	46	0	0	0	1	0	28	46				
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58723154G>A	ENST00000317391.4	+	8	903	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.R219Q	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	188						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.R219Q(1)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498																																						ENST00000300079.5																			2	Substitution - Missense(2)	p.R219Q(1)|p.R188Q(1)	lung(2)	NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(655-657)cGa>cAa		glycine-N-acyltransferase-like 1	Glycine(DB00145)						67.0	66.0	67.0					11																	58723154		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723154G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.563G>A	11.37:g.58723154G>A	ENSP00000322223:p.Arg188Gln					GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q|RP11-142C4.6_ENST00000533954.1_RNA	p.R219Q	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			7	706	+			188					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.656G>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.633211	0.29068	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.17854	2.25;2.25	2.77	-5.54	0.02544	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.417630	0.18365	U	0.143453	T	0.11281	0.0275	M	0.66297	2.02	0.09310	N	1	P;P	0.43578	0.811;0.638	B;B	0.39068	0.258;0.289	T	0.06481	-1.0824	10	0.42905	T	0.14	.	0.5839	0.00716	0.1829:0.3112:0.1945:0.3114	.	219;188	Q969I3-2;Q969I3	.;GLYL1_HUMAN	Q	165;188;219	ENSP00000322223:R188Q;ENSP00000300079:R219Q	ENSP00000300079:R219Q	R	+	2	0	GLYATL1	58479730	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.036000	0.01421	-0.775000	0.04584	-0.718000	0.03613	CGA		0.498	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		11	56	0	0	0	1	0	11	56				
CEBPB	1051	broad.mit.edu	37	20	48808604	48808604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48808604G>A	ENST00000303004.3	+	1	1229	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	345					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			TCCGGCCACTGCTAgcgcggc	0.776																																						ENST00000303004.3																			0				NS(1)|lung(1)	2						c.(1033-1035)tGc>tAc		CCAAT/enhancer binding protein (C/EBP), beta							5.0	6.0	6.0					20																	48808604		2075	4081	6156	SO:0001583	missense	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48808604G>A	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.1034G>A	20.37:g.48808604G>A	ENSP00000305422:p.Cys345Tyr						p.C345Y	NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	1229	+			345					A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	c.1034G>A	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365690	0.82463	.	.	ENSG00000172216	ENST00000303004	T	0.66099	-0.19	3.55	3.55	0.40652	.	0.000000	0.85682	U	0.000000	T	0.71333	0.3327	L	0.57536	1.79	0.58432	D	0.999998	D	0.65815	0.995	P	0.57911	0.829	T	0.76884	-0.2794	10	0.87932	D	0	-46.5402	15.2984	0.73928	0.0:0.0:1.0:0.0	.	345	P17676	CEBPB_HUMAN	Y	345	ENSP00000305422:C345Y	ENSP00000305422:C345Y	C	+	2	0	CEBPB	48242011	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.861000	0.62969	1.813000	0.52934	0.561000	0.74099	TGC		0.776	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		3	4	0	0	0	1	0	3	4				
EPHA8	2046	broad.mit.edu	37	1	22903303	22903303	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22903303C>T	ENST00000166244.3	+	3	825	c.753C>T	c.(751-753)ggC>ggT	p.G251G	EPHA8_ENST00000538803.1_Silent_p.G251G|EPHA8_ENST00000374644.4_Silent_p.G251G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	251	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCGGAGGGCGAGTGGCTCG	0.682																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(751-753)ggC>ggT		EPH receptor A8							42.0	42.0	42.0					1																	22903303		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903303C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.753C>T	1.37:g.22903303C>T						EPHA8_ENST00000374644.4_Silent_p.G251G|EPHA8_ENST00000538803.1_Silent_p.G251G	p.G251G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	825	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	251			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.753C>T	CCDS225.1																																																																																				0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		14	13	0	0	0	1	0	14	13				
AOAH	313	broad.mit.edu	37	7	36571896	36571896	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36571896A>T	ENST00000258749.5	-	17	1760	c.1361T>A	c.(1360-1362)cTc>cAc	p.L454H	AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000431169.1_Missense_Mutation_p.L454H|AOAH_ENST00000538464.1_Missense_Mutation_p.L176H|AOAH_ENST00000535891.1_Missense_Mutation_p.L422H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	454					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCTCACCTGGAGGCAGTTCAG	0.527																																						ENST00000431169.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1360-1362)cTc>cAc		acyloxyacyl hydrolase (neutrophil)							157.0	144.0	148.0					7																	36571896		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571896A>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1361T>A	7.37:g.36571896A>T	ENSP00000258749:p.Leu454His					AOAH_ENST00000535891.1_Missense_Mutation_p.L422H|AOAH_ENST00000538464.1_Missense_Mutation_p.L176H|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000258749.5_Missense_Mutation_p.L454H	p.L454H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN			17	1661	-			454					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.1361T>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406621	0.83230	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.75	5.75	0.90469	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.212080	0.32386	N	0.006165	T	0.43634	0.1256	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.41106	-0.9527	9	0.87932	D	0	.	13.8894	0.63729	1.0:0.0:0.0:0.0	.	422;454;454	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	H	176;422;454;454;454	ENSP00000439283:L176H;ENSP00000441101:L422H;ENSP00000258749:L454H;ENSP00000405683:L454H	ENSP00000258749:L454H	L	-	2	0	AOAH	36538421	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.025000	0.64097	2.333000	0.79357	0.533000	0.62120	CTC		0.527	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		6	127	0	0	0	1	0	6	127				
PDZRN4	29951	broad.mit.edu	37	12	41966991	41966991	+	Missense_Mutation	SNP	G	G	A	rs375067300		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966991G>A	ENST00000402685.2	+	10	2418	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T	PDZRN4_ENST00000298919.7_Missense_Mutation_p.A544T|PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	804							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1630-1632)Gct>Act		PDZ domain containing ring finger 4		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	150.0	151.0	151.0		2410,1636	-5.8	0.0	12		151	0,8600		0,0,4300	no	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	804/1037,546/779	41966991	1,13005	2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966991G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2410G>A	12.37:g.41966991G>A	ENSP00000384197:p.Ala804Thr					PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T	p.A544T			Q6ZMN7	PZRN4_HUMAN			10	2018	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	804					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1630G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.387111	0.01194	2.27E-4	0.0	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.42131	0.98;0.98;0.98	5.34	-5.84	0.02318	.	6.813580	0.00166	N	0.000001	T	0.18923	0.0454	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.15930	0.015;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.20438	-1.0275	10	0.14252	T	0.57	1.4058	10.3082	0.43693	0.2681:0.2005:0.5315:0.0	.	804;544;546	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	T	804;546;544	ENSP00000384197:A804T;ENSP00000439990:A546T;ENSP00000298919:A544T	ENSP00000298919:A544T	A	+	1	0	PDZRN4	40253258	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.168000	0.09925	-1.175000	0.02751	-1.078000	0.02229	GCT		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		63	103	0	0	0	1	0	63	103				
DPP9	91039	broad.mit.edu	37	19	4714097	4714097	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4714097G>A	ENST00000598800.1	-	5	727	c.222C>T	c.(220-222)taC>taT	p.Y74Y	DPP9_ENST00000594671.1_Silent_p.Y74Y|DPP9_ENST00000597849.1_Silent_p.Y103Y|DPP9_ENST00000262960.9_Silent_p.Y103Y			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	74						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTTACCCAGGTAGTAGAGGC	0.622																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(307-309)taC>taT		dipeptidyl-peptidase 9							22.0	26.0	24.0					19																	4714097		1928	4138	6066	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4714097G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.222C>T	19.37:g.4714097G>A						DPP9_ENST00000597849.1_Silent_p.Y103Y|DPP9_ENST00000598800.1_Silent_p.Y74Y|DPP9_ENST00000594671.1_Silent_p.Y74Y	p.Y103Y	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	4	586	-		Hepatocellular(1079;0.137)	74					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.309C>T																																																																																					0.622	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			4	2	0	0	0	1	0	4	2				
KRT18	3875	broad.mit.edu	37	12	53344642	53344642	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53344642C>T	ENST00000388835.3	+	3	819	c.609C>T	c.(607-609)atC>atT	p.I203I	KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Silent_p.I203I|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000550600.1_Silent_p.I203I	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AGACAGAGATCGAGGCTCTCA	0.572																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(607-609)atC>atT		keratin 18							23.0	18.0	20.0					12																	53344642		2203	4300	6503	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344642C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.609C>T	12.37:g.53344642C>T						KRT18_ENST00000388837.2_Silent_p.I203I|KRT18_ENST00000388835.3_Silent_p.I203I	p.I203I			P05783	K1C18_HUMAN			4	663	+			203			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.609C>T	CCDS31809.1																																																																																				0.572	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		5	5	0	0	0	1	0	5	5				
IGHMBP2	3508	broad.mit.edu	37	11	68705683	68705683	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68705683A>G	ENST00000255078.3	+	14	2756	c.2645A>G	c.(2644-2646)gAc>gGc	p.D882G		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	882					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGAGGAGGACTTTGAGGCC	0.582																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2644-2646)gAc>gGc		immunoglobulin mu binding protein 2							66.0	70.0	69.0					11																	68705683		2199	4294	6493	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68705683A>G	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2645A>G	11.37:g.68705683A>G	ENSP00000255078:p.Asp882Gly						p.D882G	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		14	2756	+			882					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2645A>G	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520616	0.44866	.	.	ENSG00000132740	ENST00000255078	T	0.42131	0.98	5.0	5.0	0.66597	Zinc finger, AN1-type (1);	0.262052	0.35805	N	0.002973	T	0.58177	0.2104	M	0.82056	2.57	0.80722	D	1	D	0.58268	0.982	P	0.53760	0.734	T	0.65245	-0.6215	10	0.62326	D	0.03	-31.9069	13.6795	0.62474	1.0:0.0:0.0:0.0	.	882	P38935	SMBP2_HUMAN	G	882	ENSP00000255078:D882G	ENSP00000255078:D882G	D	+	2	0	IGHMBP2	68462259	1.000000	0.71417	0.993000	0.49108	0.153000	0.21895	8.639000	0.91023	1.883000	0.54544	0.379000	0.24179	GAC		0.582	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		21	60	0	0	0	1	0	21	60				
ACTL7B	10880	broad.mit.edu	37	9	111617633	111617633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617633G>A	ENST00000374667.3	-	1	1606	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	193						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCAGCCCCGAGGTCTTGCC	0.662																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(577-579)tCg>tTg		actin-like 7B							39.0	38.0	39.0					9																	111617633		2202	4297	6499	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617633G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.578C>T	9.37:g.111617633G>A	ENSP00000363799:p.Ser193Leu						p.S193L	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1606	-			193					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.578C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792391	0.70452	.	.	ENSG00000148156	ENST00000374667	T	0.09630	2.96	4.75	4.75	0.60458	.	0.762753	0.10756	N	0.637779	T	0.21881	0.0527	M	0.81682	2.555	0.41223	D	0.986525	P	0.49862	0.929	B	0.43103	0.408	T	0.18555	-1.0333	10	0.87932	D	0	.	15.2985	0.73928	0.0:0.0:1.0:0.0	.	193	Q9Y614	ACL7B_HUMAN	L	193	ENSP00000363799:S193L	ENSP00000363799:S193L	S	-	2	0	ACTL7B	110657454	1.000000	0.71417	0.880000	0.34516	0.921000	0.55340	9.657000	0.98554	2.461000	0.83175	0.655000	0.94253	TCG		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		5	32	0	0	0	1	0	5	32				
IQSEC3	440073	broad.mit.edu	37	12	247931	247931	+	Missense_Mutation	SNP	G	G	A	rs181407967		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:247931G>A	ENST00000538872.1	+	4	1520	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	IQSEC3_ENST00000326261.4_Missense_Mutation_p.A468T|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A165T|RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	468					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ggATGACGCCGCGGAGACCCC	0.761													G|||	1	0.000199681	0.0	0.0	5008	,	,		8522	0.0		0.001	False		,,,				2504	0.0					ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1402-1404)Gcg>Acg		IQ motif and Sec7 domain 3							14.0	15.0	14.0					12																	247931		2185	4274	6459	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247931G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1402G>A	12.37:g.247931G>A	ENSP00000437554:p.Ala468Thr					IQSEC3_ENST00000326261.4_Missense_Mutation_p.A468T|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A165T|RP11-598F7.4_ENST00000505893.2_RNA	p.A468T			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1520	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		468					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1402G>A	CCDS53728.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.865	-0.235358	0.05983	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.10099	2.91;2.91;2.91	4.56	-6.48	0.01896	.	2.211840	0.01225	N	0.008208	T	0.04452	0.0122	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.08055	0.001;0.003	T	0.32428	-0.9907	10	0.14252	T	0.57	.	0.6019	0.00746	0.3896:0.2089:0.1284:0.2731	.	468;165	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	T	468;468;165	ENSP00000437554:A468T;ENSP00000315662:A468T;ENSP00000372292:A165T	ENSP00000315662:A468T	A	+	1	0	IQSEC3	118192	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.236000	0.02925	-0.851000	0.04147	-0.264000	0.10439	GCG		0.761	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	6	0	0	0	1	0	3	6				
TMF1	7110	broad.mit.edu	37	3	69088055	69088055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69088055C>A	ENST00000398559.2	-	7	2149	c.1933G>T	c.(1933-1935)Gac>Tac	p.D645Y	CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D648Y|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	645					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCCATGTCTACCTGAAGA	0.373																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1942-1944)Gac>Tac		TATA element modulatory factor 1							158.0	144.0	148.0					3																	69088055		1856	4089	5945	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69088055C>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1933G>T	3.37:g.69088055C>A	ENSP00000381567:p.Asp645Tyr					CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D645Y|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	p.D648Y	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	7	2188	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	645					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.1942G>T	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983946	0.74474	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.19669	2.13;2.13	5.54	4.66	0.58398	.	0.233723	0.49916	D	0.000132	T	0.38453	0.1041	L	0.54323	1.7	0.50632	D	0.999882	D;D	0.67145	0.996;0.992	D;P	0.64144	0.922;0.838	T	0.10590	-1.0623	10	0.72032	D	0.01	-17.237	13.8026	0.63212	0.0:0.9263:0.0:0.0737	.	648;645	P82094-2;P82094	.;TMF1_HUMAN	Y	645;648;561	ENSP00000381567:D645Y;ENSP00000438706:D648Y	ENSP00000348582:D561Y	D	-	1	0	TMF1	69170745	0.978000	0.34361	0.996000	0.52242	0.894000	0.52154	2.593000	0.46180	2.615000	0.88500	0.573000	0.79308	GAC		0.373	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		34	45	1	0	5.8336e-16	1	7.50681e-16	34	45				
MDN1	23195	broad.mit.edu	37	6	90460196	90460196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90460196G>T	ENST00000369393.3	-	24	3398	c.3283C>A	c.(3283-3285)Cag>Aag	p.Q1095K	MDN1_ENST00000428876.1_Missense_Mutation_p.Q1095K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1095					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGCCACTGGATCAGGCTT	0.423																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(3283-3285)Cag>Aag		MDN1, midasin homolog (yeast)							242.0	230.0	234.0					6																	90460196		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90460196G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3283C>A	6.37:g.90460196G>T	ENSP00000358400:p.Gln1095Lys					MDN1_ENST00000428876.1_Missense_Mutation_p.Q1095K	p.Q1095K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	24	3398	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1095					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.3283C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914650	0.33815	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.35789	1.29;1.29;1.29	5.64	3.82	0.43975	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.126787	0.51477	D	0.000082	T	0.03827	0.0108	N	0.00788	-1.185	0.23464	N	0.997627	B	0.11235	0.004	B	0.06405	0.002	T	0.42832	-0.9428	10	0.15066	T	0.55	.	13.919	0.63919	0.0:0.0:0.6078:0.3922	.	1095	Q9NU22	MDN1_HUMAN	K	1095;1095;1022	ENSP00000358400:Q1095K;ENSP00000413970:Q1095K;ENSP00000409664:Q1022K	ENSP00000358400:Q1095K	Q	-	1	0	MDN1	90516917	1.000000	0.71417	0.984000	0.44739	0.951000	0.60555	1.754000	0.38369	0.703000	0.31848	0.491000	0.48974	CAG		0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			32	260	1	0	2.87052e-16	1	3.7018e-16	32	260				
ALDH1L2	160428	broad.mit.edu	37	12	105420437	105420437	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105420437T>C	ENST00000258494.9	-	22	2742	c.2602A>G	c.(2602-2604)Atg>Gtg	p.M868V	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	868	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCACATACATAGCTTTGTTT	0.423																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(2602-2604)Atg>Gtg		aldehyde dehydrogenase 1 family, member L2							181.0	175.0	177.0					12																	105420437		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105420437T>C	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2602A>G	12.37:g.105420437T>C	ENSP00000258494:p.Met868Val					C12orf45_ENST00000548583.1_Intron	p.M868V	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			22	2742	-			868			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2602A>G	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033617	0.35893	.	.	ENSG00000136010	ENST00000258494	T	0.75704	-0.96	5.17	2.66	0.31614	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.081284	0.85682	D	0.000000	T	0.64382	0.2593	L	0.38838	1.175	0.50813	D	0.999891	B	0.19073	0.033	B	0.30029	0.11	T	0.57329	-0.7830	10	0.59425	D	0.04	.	7.7632	0.28965	0.1181:0.0:0.3398:0.5422	.	868	Q3SY69	AL1L2_HUMAN	V	868	ENSP00000258494:M868V	ENSP00000258494:M868V	M	-	1	0	ALDH1L2	103944567	0.971000	0.33674	0.809000	0.32408	0.994000	0.84299	1.738000	0.38207	0.234000	0.21139	0.455000	0.32223	ATG		0.423	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		34	195	0	0	0	1	0	34	195				
BUD13	84811	broad.mit.edu	37	11	116628595	116628595	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116628595C>T	ENST00000260210.4	-	8	1594	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	BUD13_ENST00000375445.3_Missense_Mutation_p.R390H	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	524					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCAATATAGCGGGCCAGAGG	0.488																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1570-1572)cGc>cAc		BUD13 homolog (S. cerevisiae)							121.0	122.0	122.0					11																	116628595		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116628595C>T	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1571G>A	11.37:g.116628595C>T	ENSP00000260210:p.Arg524His					BUD13_ENST00000375445.3_Missense_Mutation_p.R390H	p.R524H	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	8	1594	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	524					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1571G>A	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537035	0.96460	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.30182	1.59;1.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72507	-0.4272	10	0.87932	D	0	-9.0571	20.8794	0.99867	0.0:1.0:0.0:0.0	.	390;524	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	H	390;524	ENSP00000364594:R390H;ENSP00000260210:R524H	ENSP00000260210:R524H	R	-	2	0	BUD13	116133805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.300000	0.78841	2.941000	0.99782	0.655000	0.94253	CGC		0.488	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		13	131	0	0	0	1	0	13	131				
SNHG14	104472715	broad.mit.edu	37	15	25465722	25465722	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25465722G>A	ENST00000424208.1	+	0	3039				SNORD115-29_ENST00000362834.1_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTACATTGAAGCCCAGGATAG	0.468																																						ENST00000424208.1																			0																																																			0							g.chr15:25465722G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25465722G>A						SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	3039	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.468	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			29	66	0	0	0	1	0	29	66				
C12orf40	283461	broad.mit.edu	37	12	40078672	40078672	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40078672A>G	ENST00000324616.5	+	10	1444	c.1290A>G	c.(1288-1290)ggA>ggG	p.G430G	C12orf40_ENST00000405531.3_Silent_p.G430G	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	430										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCCTTAGGGGAAATATACCTT	0.373																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1288-1290)ggA>ggG		chromosome 12 open reading frame 40							116.0	110.0	112.0					12																	40078672		1836	4074	5910	SO:0001819	synonymous_variant	283461							g.chr12:40078672A>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1290A>G	12.37:g.40078672A>G						C12orf40_ENST00000405531.3_Silent_p.G430G	p.G430G	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			10	1444	+			430					B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	c.1290A>G	CCDS41770.1																																																																																				0.373	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		8	65	0	0	0	1	0	8	65				
DTNA	1837	broad.mit.edu	37	18	32345949	32345949	+	Missense_Mutation	SNP	G	G	A	rs202046233		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32345949G>A	ENST00000399113.3	+	2	92	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DTNA_ENST00000598142.1_Missense_Mutation_p.R31Q|DTNA_ENST00000598334.1_Missense_Mutation_p.R31Q|DTNA_ENST00000315456.6_Missense_Mutation_p.R31Q|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000348997.5_Missense_Mutation_p.R31Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R31Q|DTNA_ENST00000283365.9_Missense_Mutation_p.R31Q|DTNA_ENST00000554864.3_Missense_Mutation_p.R31Q|DTNA_ENST00000596745.1_Missense_Mutation_p.R31Q|DTNA_ENST00000269190.7_Missense_Mutation_p.R31Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R31Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R31Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R31Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R31Q|DTNA_ENST00000399121.5_Missense_Mutation_p.R31Q|DTNA_ENST00000399097.3_5'UTR			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	31	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCGCATCCGACTCTCCACC	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		17203	0.0		0.001	False		,,,				2504	0.0					ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(91-93)cGa>cAa		dystrobrevin, alpha							110.0	90.0	96.0					18																	32345949		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32345949G>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.92G>A	18.37:g.32345949G>A	ENSP00000382064:p.Arg31Gln					DTNA_ENST00000269190.7_Missense_Mutation_p.R31Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R31Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R31Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R31Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R31Q|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000598334.1_Missense_Mutation_p.R31Q|DTNA_ENST00000554864.3_Missense_Mutation_p.R31Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R31Q|DTNA_ENST00000399121.5_Missense_Mutation_p.R31Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R31Q|DTNA_ENST00000315456.6_Missense_Mutation_p.R31Q|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.R31Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R31Q|DTNA_ENST00000596745.1_Missense_Mutation_p.R31Q	p.R31Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			4	443	+			31			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.92G>A	CCDS59311.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.308163	0.95629	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.98	4.98	0.66077	EF-hand domain, type 1 (1);	0.000000	0.64402	D	0.000001	D	0.87466	0.6184	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.992;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.99;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.968;0.997;0.996;0.994;0.995;0.982;0.999;0.992;0.999;0.995;0.947;0.999	D	0.90423	0.4418	10	0.87932	D	0	-7.0224	15.5248	0.75894	0.0:0.0:1.0:0.0	.	31;31;31;31;31;31;31;42;31;31;31;31	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	Q	31	ENSP00000283365:R31Q;ENSP00000322519:R31Q;ENSP00000269190:R31Q;ENSP00000336682:R31Q;ENSP00000382072:R31Q;ENSP00000405819:R31Q;ENSP00000269191:R31Q;ENSP00000382064:R31Q	ENSP00000269190:R31Q	R	+	2	0	DTNA	30599947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.555000	0.90693	2.470000	0.83445	0.557000	0.71058	CGA		0.403	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		12	21	0	0	0	1	0	12	21				
PSME3	10197	broad.mit.edu	37	17	40991321	40991321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40991321G>A	ENST00000590720.1	+	10	841	c.608G>A	c.(607-609)cGc>cAc	p.R203H	PSME3_ENST00000293362.3_Missense_Mutation_p.R216H|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Missense_Mutation_p.R147H|PSME3_ENST00000545225.1_Missense_Mutation_p.R142H|PSME3_ENST00000441946.2_Missense_Mutation_p.R214H			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGGACTATCGCCGCACCGTG	0.468																																						ENST00000293362.3																			0				NS(1)|cervix(1)|large_intestine(3)|lung(1)	6						c.(646-648)cGc>cAc		proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)							86.0	82.0	83.0					17																	40991321		2203	4300	6503	SO:0001583	missense	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40991321G>A	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.608G>A	17.37:g.40991321G>A	ENSP00000466794:p.Arg203His					PSME3_ENST00000590720.1_Missense_Mutation_p.R203H|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_Missense_Mutation_p.R214H|PSME3_ENST00000545225.1_Missense_Mutation_p.R142H|PSME3_ENST00000592169.1_Missense_Mutation_p.R147H	p.R216H	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	10	808	+		Breast(137;0.000143)	203					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.647G>A	CCDS45689.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101147	0.94245	.	.	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946	T;T	0.51071	0.72;0.72	5.67	4.7	0.59300	Proteasome activator pa28, REG beta subunit (2);	0.109140	0.64402	D	0.000005	T	0.69984	0.3172	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.971;0.98;0.98;0.982	T	0.74191	-0.3745	10	0.51188	T	0.08	-8.9767	14.818	0.70050	0.0695:0.0:0.9305:0.0	.	142;203;203;216	B3KQ25;Q6FHK7;P61289;P61289-2	.;.;PSME3_HUMAN;.	H	142;216;203	ENSP00000441682:R142H;ENSP00000293362:R216H	ENSP00000293362:R216H	R	+	2	0	PSME3	38244847	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.785000	0.99042	1.390000	0.46547	0.561000	0.74099	CGC		0.468	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		24	25	0	0	0	1	0	24	25				
ARHGAP32	9743	broad.mit.edu	37	11	128839787	128839787	+	Missense_Mutation	SNP	C	C	T	rs550791905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128839787C>T	ENST00000310343.9	-	22	5278	c.5279G>A	c.(5278-5280)cGt>cAt	p.R1760H	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1760	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCCGAGCACGGCTCTCTCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20943	0.0		0.001	False		,,,				2504	0.0					ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5278-5280)cGt>cAt		Rho GTPase activating protein 32							101.0	93.0	96.0					11																	128839787		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839787C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5279G>A	11.37:g.128839787C>T	ENSP00000310561:p.Arg1760His					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000524655.1_3'UTR	p.R1760H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5278	-			1760			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5279G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773078	0.90108	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.16897	2.36;2.31;2.31	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.68952	2.095	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	T	0.22243	-1.0222	10	0.87932	D	0	.	20.2033	0.98269	0.0:1.0:0.0:0.0	.	1760	A7KAX9	RHG32_HUMAN	H	1760;1411;1411	ENSP00000310561:R1760H;ENSP00000376425:R1411H;ENSP00000432862:R1411H	ENSP00000310561:R1760H	R	-	2	0	ARHGAP32	128344997	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	7.482000	0.81143	2.779000	0.95612	0.655000	0.94253	CGT		0.552	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		35	35	0	0	0	1	0	35	35				
MTHFS	10588	broad.mit.edu	37	15	80181638	80181638	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80181638T>C	ENST00000258874.3	-	2	236	c.176A>G	c.(175-177)cAa>cGa	p.Q59R	MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.Q35R|ST20-MTHFS_ENST00000494999.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	59					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTTCATCTTGCATGCTCAG	0.393																																						ENST00000258874.3																			0				endometrium(3)|large_intestine(1)|liver(1)	5						c.(175-177)cAa>cGa		5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)							158.0	138.0	145.0					15																	80181638		2203	4300	6503	SO:0001583	missense	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80181638T>C	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.176A>G	15.37:g.80181638T>C	ENSP00000258874:p.Gln59Arg					ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.Q35R	p.Q59R	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	2	236	-			59					H3BQ75	Missense_Mutation	SNP	ENST00000258874.3	37	c.176A>G	CCDS10311.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562527	0.27915	.	.	ENSG00000136371	ENST00000258874	T	0.39406	1.08	5.32	-4.47	0.03525	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.948403	0.08901	N	0.877234	T	0.33089	0.0851	N	0.25647	0.755	0.20307	N	0.999919	B	0.16802	0.019	B	0.22152	0.038	T	0.24548	-1.0157	10	0.21014	T	0.42	-0.3051	22.1957	0.99968	0.0:0.0:0.8416:0.1584	.	59	P49914	MTHFS_HUMAN	R	59	ENSP00000258874:Q59R	ENSP00000258874:Q59R	Q	-	2	0	MTHFS	77968693	0.082000	0.21442	0.722000	0.30670	0.990000	0.78478	0.170000	0.16663	-0.643000	0.05473	0.528000	0.53228	CAA		0.393	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		39	61	0	0	0	1	0	39	61				
FZD8	8325	broad.mit.edu	37	10	35929971	35929971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35929971C>T	ENST00000374694.1	-	1	391	c.387G>A	c.(385-387)tgG>tgA	p.W129*	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	129	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGGTCGGGCCAGGCGAAGC	0.711																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(385-387)tgG>tgA		frizzled family receptor 8							16.0	18.0	17.0					10																	35929971		2191	4277	6468	SO:0001587	stop_gained	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929971C>T	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.387G>A	10.37:g.35929971C>T	ENSP00000363826:p.Trp129*						p.W129*	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	391	-			129			FZ.			Nonsense_Mutation	SNP	ENST00000374694.1	37	c.387G>A	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679948	0.88542	.	.	ENSG00000177283	ENST00000374694	.	.	.	3.18	2.24	0.28232	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9828	0.53129	0.0:0.8231:0.1769:0.0	.	.	.	.	X	129	.	ENSP00000363826:W129X	W	-	3	0	FZD8	35969977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.327000	0.79147	0.653000	0.30826	0.442000	0.29010	TGG		0.711	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		8	7	0	0	0	1	0	8	7				
PITPNC1	26207	broad.mit.edu	37	17	65628259	65628259	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65628259A>C	ENST00000581322.1	+	6	367	c.367A>C	c.(367-369)Att>Ctt	p.I123L	PITPNC1_ENST00000580974.1_Splice_Site_p.I123L|PITPNC1_ENST00000335257.6_Splice_Site_p.I123L|PITPNC1_ENST00000299954.9_Splice_Site_p.I123L			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	123					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCTTTTTCAGATTTTCGACAA	0.443																																						ENST00000580974.1																			0				breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.e6-1		phosphatidylinositol transfer protein, cytoplasmic 1							94.0	89.0	91.0					17																	65628259		1915	4131	6046	SO:0001630	splice_region_variant	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65628259A>C	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.367-1A>C	17.37:g.65628259A>C						PITPNC1_ENST00000335257.6_Splice_Site_p.I123_splice|PITPNC1_ENST00000581322.1_Splice_Site_p.I123_splice|PITPNC1_ENST00000299954.9_Splice_Site_p.I123_splice	p.I123_splice	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		6	1063	+	all_cancers(12;3.03e-10)		123					A8K473|J3QR20|Q96I07	Splice_Site	SNP	ENST00000581322.1	37	c.366_splice	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657660	0.47467	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.42900	0.96;0.96	5.85	4.77	0.60923	START-like domain (1);	0.088607	0.85682	D	0.000000	T	0.54078	0.1836	M	0.79258	2.445	0.58432	D	0.999992	P;B	0.34909	0.475;0.321	P;B	0.47251	0.542;0.205	T	0.52305	-0.8593	9	.	.	.	-2.6041	9.8475	0.41037	0.9193:0.0:0.0807:0.0	.	123;123	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	L	123	ENSP00000335618:I123L;ENSP00000299954:I123L	.	I	+	1	0	PITPNC1	63058721	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.527000	0.73803	1.053000	0.40415	0.402000	0.26972	ATT		0.443	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417	Missense_Mutation	3	35	0	0	0	1	0	3	35				
CACNA1F	778	broad.mit.edu	37	X	49062226	49062226	+	Silent	SNP	C	C	T	rs202177019		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49062226C>T	ENST00000376265.2	-	47	5614	c.5553G>A	c.(5551-5553)ccG>ccA	p.P1851P	CACNA1F_ENST00000323022.5_Silent_p.P1840P|AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000376251.1_Silent_p.P1786P	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1851					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAACAACAGCGGGGCATACA	0.627													C|||	1	0.000264901	0.0	0.0	3775	,	,		14157	0.001		0.0	False		,,,				2504	0.0					ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5551-5553)ccG>ccA		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						26.0	21.0	23.0					X																	49062226		2201	4299	6500	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49062226C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5553G>A	X.37:g.49062226C>T						CACNA1F_ENST00000376251.1_Silent_p.P1786P|CACNA1F_ENST00000323022.5_Silent_p.P1840P	p.P1851P	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			47	5614	-			1851					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.5553G>A	CCDS35253.1																																																																																				0.627	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		6	6	0	0	0	1	0	6	6				
MON2	23041	broad.mit.edu	37	12	62949858	62949858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62949858C>T	ENST00000393632.2	+	25	3686	c.3295C>T	c.(3295-3297)Ctc>Ttc	p.L1099F	MON2_ENST00000546600.1_Missense_Mutation_p.L1099F|MON2_ENST00000280379.6_Missense_Mutation_p.L1100F|MON2_ENST00000552738.1_Missense_Mutation_p.L1076F|MON2_ENST00000393629.2_Missense_Mutation_p.L1099F|MON2_ENST00000393630.3_Missense_Mutation_p.L1100F	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1099					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGGCAATATTCTCATTCATCA	0.418																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(3298-3300)Ctc>Ttc		MON2 homolog (S. cerevisiae)							89.0	82.0	84.0					12																	62949858		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62949858C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3295C>T	12.37:g.62949858C>T	ENSP00000377252:p.Leu1099Phe					MON2_ENST00000280379.6_Missense_Mutation_p.L1100F|MON2_ENST00000393629.2_Missense_Mutation_p.L1099F|MON2_ENST00000393632.2_Missense_Mutation_p.L1099F|MON2_ENST00000546600.1_Missense_Mutation_p.L1099F|MON2_ENST00000552738.1_Missense_Mutation_p.L1076F	p.L1100F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	26	3689	+			1100					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3298C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382113	0.82792	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.61627	0.1;0.1;0.09;0.1;0.12;0.1	4.62	3.71	0.42584	.	0.069778	0.56097	D	0.000029	T	0.77150	0.4088	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.995;1.0	T	0.79997	-0.1567	9	.	.	.	-1.0647	12.0764	0.53647	0.0:0.9138:0.0:0.0862	.	1099;1076;1099;1099	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	F	1099;1100;1100;1099;1076;1099	ENSP00000377252:L1099F;ENSP00000377250:L1100F;ENSP00000280379:L1100F;ENSP00000447407:L1099F;ENSP00000449215:L1076F;ENSP00000377249:L1099F	.	L	+	1	0	MON2	61236125	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.016000	0.70798	1.055000	0.40461	0.456000	0.33151	CTC		0.418	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		14	22	0	0	0	1	0	14	22				
CELSR3	1951	broad.mit.edu	37	3	48689349	48689349	+	Missense_Mutation	SNP	G	G	A	rs371994495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689349G>A	ENST00000164024.4	-	12	6164	c.5884C>T	c.(5884-5886)Cgg>Tgg	p.R1962W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1962W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1962	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGAGGTCCCGGCAGTCTGCG	0.657																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(5884-5886)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3		G	TRP/ARG	0,4406		0,0,2203	62.0	68.0	66.0		5884	1.6	0.4	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1962/3313	48689349	1,13005	2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48689349G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5884C>T	3.37:g.48689349G>A	ENSP00000164024:p.Arg1962Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1962W	p.R1962W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	12	6164	-			1962			EGF-like 5; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5884C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879709	0.33162	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.92048	-2.96;-2.96	5.72	1.6	0.23607	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88959	0.6579	M	0.73319	2.225	0.19945	N	0.999941	P;D	0.54047	0.952;0.964	B;B	0.40741	0.339;0.153	T	0.80334	-0.1426	9	0.54805	T	0.06	.	5.6577	0.17652	0.0678:0.1057:0.3356:0.4909	.	1962;2032	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	W	1962	ENSP00000164024:R1962W;ENSP00000445694:R1962W	ENSP00000164024:R1962W	R	-	1	2	CELSR3	48664353	0.979000	0.34478	0.434000	0.26772	0.293000	0.27360	0.920000	0.28705	0.238000	0.21222	0.655000	0.94253	CGG		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		37	67	0	0	0	1	0	37	67				
POLR1B	84172	broad.mit.edu	37	2	113326460	113326460	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326460C>T	ENST00000263331.5	+	12	2635	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	POLR1B_ENST00000409894.3_Silent_p.N502N|POLR1B_ENST00000541869.1_Silent_p.N723N|POLR1B_ENST00000417433.2_Silent_p.N629N|POLR1B_ENST00000537335.1_Silent_p.N474N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	685					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTCCACGGAACATGTACCAAT	0.443																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2053-2055)aaC>aaT		polymerase (RNA) I polypeptide B, 128kDa							144.0	108.0	120.0					2																	113326460		2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113326460C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2055C>T	2.37:g.113326460C>T						POLR1B_ENST00000537335.1_Silent_p.N474N|POLR1B_ENST00000409894.3_Silent_p.N502N|POLR1B_ENST00000541869.1_Silent_p.N723N|POLR1B_ENST00000417433.2_Silent_p.N629N	p.N685N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			12	2635	+			685					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.2055C>T	CCDS2097.1																																																																																				0.443	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		5	27	0	0	0	1	0	5	27				
TRPV1	7442	broad.mit.edu	37	17	3493176	3493176	+	Silent	SNP	C	C	T	rs199981364		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3493176C>T	ENST00000571088.1	-	6	1182	c.969G>A	c.(967-969)acG>acA	p.T323T	SHPK_ENST00000572705.1_Silent_p.T323T|TRPV1_ENST00000425167.2_Silent_p.T323T|TRPV1_ENST00000576351.1_Silent_p.T323T|TRPV1_ENST00000174621.6_Silent_p.T321T|TRPV1_ENST00000399756.4_Silent_p.T323T|TRPV1_ENST00000399759.3_Silent_p.T323T|TRPV1_ENST00000310522.5_Silent_p.T323T	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	323					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCAGCTTCAGCGTCGGGTGCA	0.607																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(961-963)acG>acA		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						42.0	50.0	48.0					17																	3493176		2111	4247	6358	SO:0001819	synonymous_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493176C>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.969G>A	17.37:g.3493176C>T						TRPV1_ENST00000399759.3_Silent_p.T323T|TRPV1_ENST00000310522.5_Silent_p.T323T|TRPV1_ENST00000399756.4_Silent_p.T323T|SHPK_ENST00000572705.1_Silent_p.T323T|TRPV1_ENST00000571088.1_Silent_p.T323T|TRPV1_ENST00000576351.1_Silent_p.T323T|TRPV1_ENST00000425167.2_Silent_p.T323T	p.T321T			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	5	1252	-			323					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	c.963G>A	CCDS45576.1																																																																																				0.607	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		7	8	0	0	0	1	0	7	8				
FHOD3	80206	broad.mit.edu	37	18	34326954	34326954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34326954G>T	ENST00000359247.4	+	20	3512	c.3512G>T	c.(3511-3513)aGa>aTa	p.R1171I	FHOD3_ENST00000592128.1_Missense_Mutation_p.R167I|FHOD3_ENST00000590592.1_Missense_Mutation_p.R1363I|FHOD3_ENST00000591635.1_Missense_Mutation_p.R384I|FHOD3_ENST00000445677.1_Missense_Mutation_p.R1150I|FHOD3_ENST00000257209.4_Missense_Mutation_p.R1188I	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1171	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATGGAGAGAAGATGCAAAGCT	0.433																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3562-3564)aGa>aTa		formin homology 2 domain containing 3							90.0	85.0	87.0					18																	34326954		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34326954G>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3512G>T	18.37:g.34326954G>T	ENSP00000352186:p.Arg1171Ile					FHOD3_ENST00000592128.1_Missense_Mutation_p.R167I|FHOD3_ENST00000359247.4_Missense_Mutation_p.R1171I|FHOD3_ENST00000591635.1_Missense_Mutation_p.R384I|FHOD3_ENST00000590592.1_Missense_Mutation_p.R1363I|FHOD3_ENST00000445677.1_Missense_Mutation_p.R1150I	p.R1188I	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			21	3685	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1171			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3563G>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.472636	0.84640	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.65178	-0.14;-0.14;-0.14	5.44	4.57	0.56435	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.74881	2.28	0.80722	D	1	D;D;D;P	0.62365	0.965;0.989;0.991;0.883	P;P;D;P	0.64877	0.879;0.885;0.93;0.76	T	0.78494	-0.2182	10	0.62326	D	0.03	.	12.6996	0.57024	0.0802:0.0:0.9198:0.0	.	392;1150;1171;1188	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	I	1188;1171;1150	ENSP00000257209:R1188I;ENSP00000352186:R1171I;ENSP00000411430:R1150I	ENSP00000257209:R1188I	R	+	2	0	FHOD3	32580952	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.869000	0.99810	1.304000	0.44892	0.462000	0.41574	AGA		0.433	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		21	32	1	0	3.62473e-10	1	4.44982e-10	21	32				
CBX4	8535	broad.mit.edu	37	17	77808500	77808500	+	Missense_Mutation	SNP	G	G	A	rs140935310	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808500G>A	ENST00000269397.4	-	5	1118	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	314	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCTGCGCCCGCCGCCTTTTT	0.692											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	7	0.00139776	0.0	0.0014	5008	,	,		10726	0.0		0.006	False		,,,				2504	0.0					ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(940-942)gCg>gTg		chromobox homolog 4		G	VAL/ALA	1,4405		0,1,2202	30.0	34.0	33.0		941	2.9	0.0	17	dbSNP_134	33	24,8574		0,24,4275	yes	missense	CBX4	NM_003655.2	64	0,25,6477	AA,AG,GG		0.2791,0.0227,0.1922	benign	314/561	77808500	25,12979	2203	4299	6502	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808500G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.941C>T	17.37:g.77808500G>A	ENSP00000269397:p.Ala314Val		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.A314V	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1118	-			314			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.941C>T	CCDS32758.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	g	7.198	0.592889	0.13875	2.27E-4	0.002791	ENSG00000141582	ENST00000269397	.	.	.	3.87	2.89	0.33648	.	9.116280	0.00775	N	0.001229	T	0.35970	0.0950	L	0.44542	1.39	0.25108	N	0.990733	B	0.11235	0.004	B	0.04013	0.001	T	0.19778	-1.0295	9	0.33940	T	0.23	-7.4993	9.0904	0.36607	0.1125:0.0:0.8875:0.0	.	314	O00257	CBX4_HUMAN	V	314	.	ENSP00000269397:A314V	A	-	2	0	CBX4	75423095	0.024000	0.19004	0.002000	0.10522	0.152000	0.21847	1.323000	0.33701	0.615000	0.30124	0.306000	0.20318	GCG		0.692	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		22	19	0	0	0	1	0	22	19				
RPP40	10799	broad.mit.edu	37	6	4996525	4996525	+	Missense_Mutation	SNP	G	G	A	rs558469947		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996525G>A	ENST00000380051.2	-	6	733	c.689C>T	c.(688-690)aCg>aTg	p.T230M	RPP40_ENST00000319533.5_Missense_Mutation_p.T207M|RPP40_ENST00000464646.1_Missense_Mutation_p.T170M	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	230					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CACCTCTGGCGTTCCCTCCAG	0.567																																						ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(688-690)aCg>aTg		ribonuclease P/MRP 40kDa subunit							68.0	69.0	69.0					6																	4996525		2203	4300	6503	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:4996525G>A	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.689C>T	6.37:g.4996525G>A	ENSP00000369391:p.Thr230Met					RPP40_ENST00000464646.1_Missense_Mutation_p.T170M|RPP40_ENST00000319533.5_Missense_Mutation_p.T207M	p.T230M	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			6	733	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	230					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.689C>T	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837688	0.32513	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.44083	0.93;0.93;0.93	5.33	-6.99	0.01605	.	0.951220	0.08723	N	0.903229	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B;P	0.36065	0.045;0.535	B;B	0.34093	0.005;0.175	T	0.18650	-1.0330	10	0.51188	T	0.08	-9.2796	1.6389	0.02748	0.1969:0.128:0.3528:0.3223	.	207;230	O75818-2;O75818	.;RPP40_HUMAN	M	230;207;170	ENSP00000369391:T230M;ENSP00000317998:T207M;ENSP00000419431:T170M	ENSP00000317998:T207M	T	-	2	0	RPP40	4941524	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.014000	0.13333	-1.620000	0.01564	-0.898000	0.02899	ACG		0.567	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		31	47	0	0	0	1	0	31	47				
VEZF1	7716	broad.mit.edu	37	17	56051876	56051876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56051876C>T	ENST00000581208.1	-	6	1564	c.1524G>A	c.(1522-1524)atG>atA	p.M508I	VEZF1_ENST00000584396.1_Missense_Mutation_p.M499I	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	508					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAAGAAAGGCATGCTCTCTA	0.408																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1495-1497)atG>atA		vascular endothelial zinc finger 1							128.0	112.0	117.0					17																	56051876		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56051876C>T	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1524G>A	17.37:g.56051876C>T	ENSP00000462337:p.Met508Ile					VEZF1_ENST00000581208.1_Missense_Mutation_p.M508I	p.M499I			Q14119	VEZF1_HUMAN			6	1585	-			508						Missense_Mutation	SNP	ENST00000581208.1	37	c.1497G>A	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324859	0.60634	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.86	5.86	0.93980	.	0.035256	0.85682	D	0.000000	T	0.55673	0.1935	L	0.27053	0.805	0.80722	D	1	P	0.35872	0.525	B	0.42214	0.38	T	0.58538	-0.7619	9	0.87932	D	0	-12.7468	20.1859	0.98214	0.0:1.0:0.0:0.0	.	508	Q14119	VEZF1_HUMAN	I	508	.	ENSP00000258963:M508I	M	-	3	0	VEZF1	53406875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.777000	0.95525	0.591000	0.81541	ATG		0.408	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			31	45	0	0	0	1	0	31	45				
GPR83	10888	broad.mit.edu	37	11	94126758	94126758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94126758C>T	ENST00000243673.2	-	3	711	c.540G>A	c.(538-540)cgG>cgA	p.R180R	GPR83_ENST00000539203.2_Silent_p.R138R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	180					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATTGAGATCCGGGGTTTCA	0.463																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(538-540)cgG>cgA		G protein-coupled receptor 83							148.0	133.0	138.0					11																	94126758		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94126758C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.540G>A	11.37:g.94126758C>T						GPR83_ENST00000539203.2_Silent_p.R138R	p.R180R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			3	711	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	180					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.540G>A	CCDS8297.1																																																																																				0.463	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		18	30	0	0	0	1	0	18	30				
MUC17	140453	broad.mit.edu	37	7	100684837	100684837	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684837T>A	ENST00000306151.4	+	3	10204	c.10140T>A	c.(10138-10140)tcT>tcA	p.S3380S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3380	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTTTATCTCCTACAACTG	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10138-10140)tcT>tcA		mucin 17, cell surface associated							285.0	298.0	294.0					7																	100684837		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684837T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10140T>A	7.37:g.100684837T>A							p.S3380S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10204	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3380			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.10140T>A	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		26	371	0	0	0	1	0	26	371				
CAPN5	726	broad.mit.edu	37	11	76826516	76826516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76826516G>A	ENST00000278559.3	+	6	964	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	CAPN5_ENST00000456580.2_Missense_Mutation_p.V299M|CAPN5_ENST00000529629.1_Missense_Mutation_p.V259M|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	259	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGTCACTGATGTGCGCAAGGT	0.637																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(775-777)Gtg>Atg		calpain 5							45.0	41.0	42.0					11																	76826516		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76826516G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.775G>A	11.37:g.76826516G>A	ENSP00000278559:p.Val259Met					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.V259M|CAPN5_ENST00000456580.2_Missense_Mutation_p.V299M	p.V259M	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			6	964	+			259			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.775G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070633	0.93950	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.89485	-2.52;-2.52;-2.52	5.11	5.11	0.69529	Peptidase C2, calpain, catalytic domain (3);	0.062185	0.64402	D	0.000004	D	0.94430	0.8208	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.996;1.0	D	0.95080	0.8212	10	0.87932	D	0	.	17.5326	0.87819	0.0:0.0:1.0:0.0	.	297;299;299;259	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	M	259;299;259;299;299	ENSP00000278559:V259M;ENSP00000432332:V259M;ENSP00000409996:V299M	ENSP00000278559:V259M	V	+	1	0	CAPN5	76504164	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.973000	0.88032	2.368000	0.80403	0.561000	0.74099	GTG		0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		15	23	0	0	0	1	0	15	23				
RIMKLB	57494	broad.mit.edu	37	12	8902618	8902618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8902618C>T	ENST00000538135.1	+	3	1161	c.336C>T	c.(334-336)tgC>tgT	p.C112C	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Silent_p.C112C|RIMKLB_ENST00000357529.3_Silent_p.C112C			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	112					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.C112C(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTGAACTGCGTTAATAAGT	0.473																																						ENST00000357529.3																			1	Substitution - coding silent(1)	p.C112C(1)	large_intestine(1)	central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(334-336)tgC>tgT		ribosomal modification protein rimK-like family member B							99.0	93.0	95.0					12																	8902618		1924	4115	6039	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8902618C>T	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.336C>T	12.37:g.8902618C>T						RIMKLB_ENST00000535829.1_Silent_p.C112C|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.C112C	p.C112C	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			4	1598	+			112					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.336C>T	CCDS41748.1																																																																																				0.473	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		27	50	0	0	0	1	0	27	50				
OR56A4	120793	broad.mit.edu	37	11	6023843	6023843	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023843A>G	ENST00000330728.4	-	1	581	c.536T>C	c.(535-537)gTg>gCg	p.V179A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGATGGCCACATAACGGTC	0.493																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(535-537)gTg>gCg		olfactory receptor, family 56, subfamily A, member 4							76.0	66.0	69.0					11																	6023843		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023843A>G	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.536T>C	11.37:g.6023843A>G	ENSP00000328215:p.Val179Ala						p.V179A	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	581	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	127					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.536T>C	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001665	0.74932	.	.	ENSG00000183389	ENST00000330728	T	0.20738	2.05	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32852	U	0.005575	T	0.33147	0.0853	M	0.79475	2.455	0.37048	D	0.89746	P	0.34837	0.472	B	0.43018	0.405	T	0.46978	-0.9152	10	0.87932	D	0	.	11.4218	0.49987	1.0:0.0:0.0:0.0	.	127	Q8NGH8	O56A4_HUMAN	A	179	ENSP00000328215:V179A	ENSP00000328215:V179A	V	-	2	0	OR56A4	5980419	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.899000	0.92544	1.613000	0.50231	0.459000	0.35465	GTG		0.493	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		10	15	0	0	0	1	0	10	15				
CDH20	28316	broad.mit.edu	37	18	59170288	59170288	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59170288C>T	ENST00000262717.4	+	5	1162	c.764C>T	c.(763-765)gCt>gTt	p.A255V	CDH20_ENST00000536675.2_Missense_Mutation_p.A255V|CDH20_ENST00000538374.1_Missense_Mutation_p.A255V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	255	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGATTAGCTGGGACCACA	0.507											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(763-765)gCt>gTt		cadherin 20, type 2							200.0	180.0	187.0					18																	59170288		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59170288C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.764C>T	18.37:g.59170288C>T	ENSP00000262717:p.Ala255Val		OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1036	CDH20_ENST00000536675.2_Missense_Mutation_p.A255V|CDH20_ENST00000538374.1_Missense_Mutation_p.A255V	p.A255V			Q9HBT6	CAD20_HUMAN			5	1162	+		Colorectal(73;0.186)	255			Cadherin 2.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.764C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110880	0.94292	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.51817	0.69;0.69;0.69	5.72	5.72	0.89469	Cadherin (5);Cadherin-like (1);	0.049304	0.85682	D	0.000000	T	0.48295	0.1492	N	0.11064	0.09	0.58432	D	0.999998	P	0.52692	0.955	P	0.56127	0.792	T	0.56583	-0.7955	10	0.87932	D	0	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	255	Q9HBT6	CAD20_HUMAN	V	255	ENSP00000444767:A255V;ENSP00000442226:A255V;ENSP00000262717:A255V	ENSP00000262717:A255V	A	+	2	0	CDH20	57321268	1.000000	0.71417	0.930000	0.37139	0.984000	0.73092	5.959000	0.70339	2.857000	0.98124	0.650000	0.86243	GCT		0.507	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		27	75	0	0	0	1	0	27	75				
PLXNB3	5365	broad.mit.edu	37	X	153040344	153040344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153040344C>T	ENST00000361971.5	+	24	4055	c.3941C>T	c.(3940-3942)aCg>aTg	p.T1314M	PLXNB3_ENST00000538282.1_Silent_p.D948D|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.T1337M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.T967M	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1314					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCATGACGGAGATGACC	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(4009-4011)aCg>aTg		plexin B3							58.0	60.0	59.0					X																	153040344		2200	4295	6495	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153040344C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3941C>T	X.37:g.153040344C>T	ENSP00000355378:p.Thr1314Met					PLXNB3_ENST00000361971.5_Missense_Mutation_p.T1314M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.T967M|PLXNB3_ENST00000538282.1_Silent_p.D948D	p.T1337M	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			25	4281	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1314					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.4010C>T	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.28|19.28	3.796762|3.796762	0.70567|0.70567	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000411613|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.02682	.|4.82;4.79;4.2	5.21|5.21	4.34|4.34	0.51931|0.51931	.|.	.|0.050946	.|0.85682	.|D	.|0.000000	T|T	0.10380|0.10380	0.0254|0.0254	M|M	0.67397|0.67397	2.05|2.05	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D	.|0.76494	.|0.999;0.998;0.999	.|P;P;P	.|0.62813	.|0.811;0.907;0.811	T|T	0.01688|0.01688	-1.1295|-1.1295	5|10	.|0.44086	.|T	.|0.13	.|.	11.2081|11.2081	0.48782|0.48782	0.0:0.9066:0.0:0.0934|0.0:0.9066:0.0:0.0934	.|.	.|967;1337;1314	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	W|M	20|1337;1314;967	.|ENSP00000442736:T1337M;ENSP00000355378:T1314M;ENSP00000445569:T967M	.|ENSP00000355378:T1314M	R|T	+|+	1|2	2|0	PLXNB3|PLXNB3	152693538|152693538	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.760000|0.760000	0.43138|0.43138	6.008000|6.008000	0.70739|0.70739	2.150000|2.150000	0.67090|0.67090	0.529000|0.529000	0.55759|0.55759	CGG|ACG		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			32	46	0	0	0	1	0	32	46				
CYBRD1	79901	broad.mit.edu	37	2	172398116	172398116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398116C>T	ENST00000321348.4	+	2	413	c.215C>T	c.(214-216)cCg>cTg	p.P72L	CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14L|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000375252.3_Intron	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TACAGACTGCCGTGGACCTGG	0.438																																						ENST00000321348.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						c.(214-216)cCg>cTg		cytochrome b reductase 1							148.0	137.0	141.0					2																	172398116		2203	4300	6503	SO:0001583	missense	79901				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr2:172398116C>T	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.215C>T	2.37:g.172398116C>T	ENSP00000319141:p.Pro72Leu					CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14L	p.P72L	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN			2	413	+			72			Cytochrome b561.		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	c.215C>T	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938407	0.92526	.	.	ENSG00000071967	ENST00000409484;ENST00000321348;ENST00000445146	T;T;T	0.39229	1.09;1.09;1.09	5.38	5.38	0.77491	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68330	-0.5437	10	0.48119	T	0.1	-10.853	19.1378	0.93435	0.0:1.0:0.0:0.0	.	72	Q53TN4	CYBR1_HUMAN	L	14;72;33	ENSP00000386739:P14L;ENSP00000319141:P72L;ENSP00000402242:P33L	ENSP00000319141:P72L	P	+	2	0	CYBRD1	172106362	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.757000	0.85209	2.521000	0.84997	0.650000	0.86243	CCG		0.438	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		19	48	0	0	0	1	0	19	48				
DNAH2	146754	broad.mit.edu	37	17	7637893	7637893	+	Missense_Mutation	SNP	G	G	A	rs369805347		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7637893G>A	ENST00000572933.1	+	7	2305	c.845G>A	c.(844-846)cGc>cAc	p.R282H	DNAH2_ENST00000082259.3_Missense_Mutation_p.R282H|DNAH2_ENST00000570791.1_Missense_Mutation_p.R282H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R282H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	282	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGTTCTGGCGCAACCGATGC	0.527																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(844-846)cGc>cAc		dynein, axonemal, heavy chain 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	95.0	99.0		845	-2.5	1.0	17		99	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	282/4428	7637893	1,13005	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7637893G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.845G>A	17.37:g.7637893G>A	ENSP00000458355:p.Arg282His					DNAH2_ENST00000570791.1_Missense_Mutation_p.R282H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R282H|DNAH2_ENST00000082259.3_Missense_Mutation_p.R282H	p.R282H			Q9P225	DYH2_HUMAN			7	2305	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	282			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.845G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772196	0.49680	2.27E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56941	0.43;0.43	5.63	-2.49	0.06403	Dynein heavy chain, domain-1 (1);	1.562770	0.03411	N	0.204799	T	0.54902	0.1887	M	0.81682	2.555	0.25265	N	0.989565	B;D	0.56968	0.043;0.978	B;B	0.44278	0.019;0.445	T	0.55341	-0.8156	10	0.51188	T	0.08	.	5.3017	0.15781	0.3043:0.0:0.463:0.2327	.	282;282	Q9P225;Q9P225-3	DYH2_HUMAN;.	H	282	ENSP00000373825:R282H;ENSP00000082259:R282H	ENSP00000082259:R282H	R	+	2	0	DNAH2	7578618	0.986000	0.35501	0.996000	0.52242	0.987000	0.75469	0.142000	0.16096	-0.173000	0.10761	0.455000	0.32223	CGC		0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		19	29	0	0	0	1	0	19	29				
SMARCA4	6597	broad.mit.edu	37	19	11118620	11118620	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11118620C>A	ENST00000429416.3	+	15	2325	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	SMARCA4_ENST00000413806.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L682M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000358026.2_Missense_Mutation_p.L682M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L682M|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L682M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	682					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTCCCACCCTGCCCGTGGA	0.607			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2044-2046)Ctg>Atg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							96.0	75.0	82.0					19																	11118620		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11118620C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2044C>A	19.37:g.11118620C>A	ENSP00000395654:p.Leu682Met					SMARCA4_ENST00000590574.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L682M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L682M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L682M	p.L682M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			14	2328	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	682					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2044C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807488	0.31961	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.62	3.42	0.39159	.	0.267739	0.25217	N	0.032271	T	0.79028	0.4377	N	0.22421	0.69	0.09310	N	1	B;B;B;P;B;B;B	0.51351	0.438;0.438;0.438;0.944;0.41;0.008;0.008	B;B;B;P;B;B;B	0.45753	0.308;0.308;0.308;0.492;0.146;0.011;0.011	T	0.69833	-0.5038	10	0.46703	T	0.11	-23.6552	7.021	0.24914	0.1423:0.7061:0.0:0.1516	.	682;682;682;682;682;682;682	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	M	682;682;746;682;682;682;682;682	ENSP00000395654:L682M;ENSP00000350720:L682M;ENSP00000343896:L682M;ENSP00000445036:L682M;ENSP00000392837:L682M;ENSP00000397783:L682M;ENSP00000414727:L682M	ENSP00000343896:L682M	L	+	1	2	SMARCA4	10979620	0.968000	0.33430	0.826000	0.32828	0.990000	0.78478	2.305000	0.43664	0.689000	0.31550	0.561000	0.74099	CTG		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	24	1	0	1	1	1	3	24				
ZNF254	9534	broad.mit.edu	37	19	24310260	24310260	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:24310260A>T	ENST00000357002.4	+	4	1573	c.1458A>T	c.(1456-1458)ggA>ggT	p.G486G	ZNF254_ENST00000342944.6_Silent_p.G401G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	486					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGCACACTGGAGAGAAACCCT	0.388																																						ENST00000357002.4																			0											c.(1456-1458)ggA>ggT		zinc finger protein 254							62.0	63.0	63.0					19																	24310260		2203	4299	6502	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310260A>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1458A>T	19.37:g.24310260A>T						ZNF254_ENST00000342944.6_Silent_p.G401G	p.G486G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1573	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	486					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1458A>T	CCDS32983.1																																																																																				0.388	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	48	0	0	0	1	0	4	48				
RAP1GAP2	23108	broad.mit.edu	37	17	2908723	2908723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2908723G>A	ENST00000254695.8	+	15	1351	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V406I|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V421I|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V402I	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	421	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTCCCCCCGTTTTCCAGAA	0.562																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1261-1263)Gtt>Att		RAP1 GTPase activating protein 2							175.0	176.0	176.0					17																	2908723		1989	4187	6176	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2908723G>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1261G>A	17.37:g.2908723G>A	ENSP00000254695:p.Val421Ile					RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V402I|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V421I|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V406I	p.V421I	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			15	1351	+			421			Rap-GAP.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.1261G>A	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991921	0.54041	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	4.98	4.98	0.66077	Rap/ran-GAP (2);	0.054442	0.64402	D	0.000001	D	0.88540	0.6464	N	0.12611	0.24	0.58432	D	0.999999	B;B	0.13594	0.003;0.008	B;B	0.06405	0.001;0.002	D	0.83952	0.0317	10	0.36615	T	0.2	-0.8747	16.9918	0.86356	0.0:0.0:1.0:0.0	.	406;421	Q684P5-2;Q684P5	.;RPGP2_HUMAN	I	421;406;402;421	ENSP00000254695:V421I;ENSP00000389824:V406I;ENSP00000439688:V402I;ENSP00000444890:V421I	ENSP00000254695:V421I	V	+	1	0	RAP1GAP2	2855473	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.144000	0.50616	2.589000	0.87451	0.561000	0.74099	GTT		0.562	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			71	87	0	0	0	1	0	71	87				
ZEB1	6935	broad.mit.edu	37	10	31791292	31791292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31791292C>T	ENST00000320985.10	+	4	446	c.336C>T	c.(334-336)tgC>tgT	p.C112C	ZEB1_ENST00000446923.2_Silent_p.C96C|ZEB1_ENST00000560721.2_Silent_p.C92C|ZEB1_ENST00000361642.5_Silent_p.C113C|ZEB1_ENST00000542815.3_Silent_p.C45C|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	112					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C112C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGATGAATGCGAGTCAGATG	0.338																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			1	Substitution - coding silent(1)	p.C112C(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(286-288)tgC>tgT		zinc finger E-box binding homeobox 1							95.0	87.0	90.0					10																	31791292		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31791292C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.336C>T	10.37:g.31791292C>T						ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.C113C|ZEB1_ENST00000320985.10_Silent_p.C112C|ZEB1_ENST00000560721.2_Silent_p.C92C|ZEB1_ENST00000542815.3_Silent_p.C45C	p.C96C	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			4	679	+		Prostate(175;0.0156)	112					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.288C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191691	0.21954	.	.	ENSG00000148516	ENST00000543514	.	.	.	5.92	-4.35	0.03656	.	.	.	.	.	T	0.69566	0.3125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74830	-0.3531	5	0.87932	D	0	-10.5085	13.9391	0.64043	0.0:0.2781:0.0:0.7219	.	.	.	.	V	4	.	ENSP00000443742:A4V	A	+	2	0	ZEB1	31831298	0.691000	0.27709	0.986000	0.45419	0.998000	0.95712	-0.181000	0.09740	-0.731000	0.04862	0.650000	0.86243	GCG		0.338	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		17	37	0	0	0	1	0	17	37				
KLHL15	80311	broad.mit.edu	37	X	24007070	24007070	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24007070A>G	ENST00000328046.8	-	4	1038	c.783T>C	c.(781-783)aaT>aaC	p.N261N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	261					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GCTGGTGAACATTCTGAAAGT	0.398																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(781-783)aaT>aaC		kelch-like family member 15							77.0	75.0	76.0					X																	24007070		2203	4298	6501	SO:0001819	synonymous_variant	80311							g.chrX:24007070A>G	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.783T>C	X.37:g.24007070A>G							p.N261N	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1038	-			261					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	c.783T>C	CCDS35217.1																																																																																				0.398	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		57	87	0	0	0	1	0	57	87				
HCN2	610	broad.mit.edu	37	19	605215	605215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:605215G>A	ENST00000251287.2	+	3	1264	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	404					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCAATGGCATGGTGGTG	0.642																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(1210-1212)gGc>gAc		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							73.0	59.0	64.0					19																	605215		2202	4298	6500	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:605215G>A	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1211G>A	19.37:g.605215G>A	ENSP00000251287:p.Gly404Asp						p.G404D	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1264	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	404					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1211G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702712	0.30232	.	.	ENSG00000099822	ENST00000251287	D	0.98512	-4.97	3.65	1.24	0.21308	Ion transport (1);	.	.	.	.	D	0.94640	0.8272	L	0.28504	0.86	0.25962	N	0.982615	B	0.21753	0.06	B	0.30782	0.12	D	0.87550	0.2464	9	0.19147	T	0.46	.	5.8637	0.18762	0.5145:0.0:0.4855:0.0	.	404	Q9UL51	HCN2_HUMAN	D	404	ENSP00000251287:G404D	ENSP00000251287:G404D	G	+	2	0	HCN2	556215	0.989000	0.36119	0.948000	0.38648	0.906000	0.53458	2.838000	0.48199	0.005000	0.14708	0.394000	0.25966	GGC		0.642	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		15	31	0	0	0	1	0	15	31				
ZNF827	152485	broad.mit.edu	37	4	146824126	146824126	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146824126C>A	ENST00000508784.1	-	2	512	c.285G>T	c.(283-285)ctG>ctT	p.L95L	ZNF827_ENST00000379448.4_Silent_p.L95L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTGACACTGCAGTGAGTCTC	0.602																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(283-285)ctG>ctT		zinc finger protein 827							76.0	68.0	70.0					4																	146824126		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824126C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.285G>T	4.37:g.146824126C>A						ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.L95L	p.L95L			Q17R98	ZN827_HUMAN			2	512	-	all_hematologic(180;0.151)		95					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.285G>T																																																																																					0.602	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		18	24	1	0	0.006122	1	0.00643812	18	24				
C14orf28	122525	broad.mit.edu	37	14	45370061	45370061	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370061A>C	ENST00000325192.3	+	2	698	c.423A>C	c.(421-423)aaA>aaC	p.K141N	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.K141N	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	141										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATTTTACAAAAAATCTTGAAA	0.368																																						ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(421-423)aaA>aaC		chromosome 14 open reading frame 28							47.0	50.0	49.0					14																	45370061		2203	4300	6503	SO:0001583	missense	122525							g.chr14:45370061A>C	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.423A>C	14.37:g.45370061A>C	ENSP00000326846:p.Lys141Asn					RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.K141N|C14orf28_ENST00000553841.1_3'UTR	p.K141N	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN			2	698	+			141						Missense_Mutation	SNP	ENST00000325192.3	37	c.423A>C	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573546	0.28092	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.32753	1.44;1.44	5.86	4.57	0.56435	.	0.216267	0.44483	D	0.000459	T	0.14960	0.0361	N	0.14661	0.345	0.47123	D	0.999323	B	0.33238	0.403	B	0.30855	0.121	T	0.07578	-1.0765	10	0.72032	D	0.01	.	3.3618	0.07189	0.684:0.0:0.1228:0.1931	.	141	Q4W4Y0	CN028_HUMAN	N	141	ENSP00000326846:K141N;ENSP00000451791:K141N	ENSP00000326846:K141N	K	+	3	2	C14orf28	44439811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.209000	0.32357	2.367000	0.80283	0.528000	0.53228	AAA		0.368	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		12	27	0	0	0	1	0	12	27				
VPS13C	54832	broad.mit.edu	37	15	62165444	62165444	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62165444C>A	ENST00000261517.5	-	78	10652		c.e78+1		VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGAACTTACTCGCAGAAAG	0.418																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.e78+1		vacuolar protein sorting 13 homolog C (S. cerevisiae)							153.0	152.0	152.0					15																	62165444		2203	4300	6503	SO:0001630	splice_region_variant	54832				protein localization			g.chr15:62165444C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10578+1G>T	15.37:g.62165444C>A						VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site		NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			78	10652	-									Splice_Site	SNP	ENST00000261517.5	37		CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688885	0.48097	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	59952736	1.000000	0.71417	0.956000	0.39512	0.051000	0.14879	7.759000	0.85235	2.865000	0.98341	0.655000	0.94253	.		0.418	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Intron	64	111	1	0	9.61844e-40	1	1.29731e-39	64	111				
ZNF292	23036	broad.mit.edu	37	6	87966302	87966302	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87966302T>G	ENST00000369577.3	+	8	2998	c.2955T>G	c.(2953-2955)ggT>ggG	p.G985G	ZNF292_ENST00000339907.4_Silent_p.G980G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	985						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCATCCAGGTTTCCAGGAGA	0.403																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(2953-2955)ggT>ggG		zinc finger protein 292							89.0	86.0	87.0					6																	87966302		1882	4105	5987	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966302T>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2955T>G	6.37:g.87966302T>G						ZNF292_ENST00000339907.4_Silent_p.G980G	p.G985G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	2998	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	985					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.2955T>G	CCDS47457.1																																																																																				0.403	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		37	49	0	0	0	1	0	37	49				
IGHV3-72	28410	broad.mit.edu	37	14	107199127	107199127	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107199127G>T	ENST00000433072.2	-	0	241									immunoglobulin heavy variable 3-72																		GGCGGACCCAGTCCATGTAGT	0.587																																						ENST00000433072.2																			0																				118.0	112.0	114.0					14																	107199127		1905	4108	6013			0							g.chr14:107199127G>T	X92206		14q32.33	2012-02-08			ENSG00000225698	ENSG00000225698		"""Immunoglobulins / IGH locus"""	5622	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151865		14.37:g.107199127G>T														0	241	-									RNA	SNP	ENST00000433072.2	37																																																																																						0.587	IGHV3-72-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324210.1	NG_001019		33	43	1	0	1.26612e-14	1	1.61806e-14	33	43				
PEX6	5190	broad.mit.edu	37	6	42936095	42936095	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42936095G>A	ENST00000304611.8	-	7	1690	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	PEX6_ENST00000244546.4_Silent_p.L541L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	541					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCCTCACCCAGCCCATCACGG	0.622																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(1621-1623)Ctg>Ttg		peroxisomal biogenesis factor 6							44.0	46.0	45.0					6																	42936095		2203	4300	6503	SO:0001819	synonymous_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42936095G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1621C>T	6.37:g.42936095G>A						PEX6_ENST00000244546.4_Silent_p.L541L	p.L541L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		7	1690	-			541					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	c.1621C>T	CCDS4877.1																																																																																				0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		18	27	0	0	0	1	0	18	27				
ANKRD17	26057	broad.mit.edu	37	4	73964217	73964217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73964217C>A	ENST00000358602.4	-	26	4710	c.4594G>T	c.(4594-4596)Gaa>Taa	p.E1532*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E1419*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E1281*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1532					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGGAGGTTCTGTCAAGACT	0.383																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4594-4596)Gaa>Taa		ankyrin repeat domain 17							56.0	52.0	54.0					4																	73964217		2203	4300	6503	SO:0001587	stop_gained	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73964217C>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4594G>T	4.37:g.73964217C>A	ENSP00000351416:p.Glu1532*					ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E1419*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E1281*	p.E1532*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	4710	-	Breast(15;0.000295)		1532					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	ENST00000358602.4	37	c.4594G>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	45	11.670644	0.99589	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7158	0.96119	0.0:1.0:0.0:0.0	.	.	.	.	X	1532;1281;1419	.	ENSP00000332265:E1281X	E	-	1	0	ANKRD17	74183081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.253000	0.72453	2.669000	0.90835	0.591000	0.81541	GAA		0.383	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		8	60	1	0	0.00448238	1	0.00472561	8	60				
IFIT2	3433	broad.mit.edu	37	10	91066350	91066350	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066350G>A	ENST00000371826.3	+	2	806	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	213					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTACCTTAAAGTCCTCCTGGC	0.502																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(637-639)Gtc>Atc		interferon-induced protein with tetratricopeptide repeats 2							61.0	62.0	62.0					10																	91066350		1983	4171	6154	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066350G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.637G>A	10.37:g.91066350G>A	ENSP00000360891:p.Val213Ile					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.V213I	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	806	+		Colorectal(252;0.0161)	213					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.637G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368047	0.61513	.	.	ENSG00000119922	ENST00000371826	T	0.37411	1.2	4.45	1.61	0.23674	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.149661	0.43260	U	0.000585	T	0.42653	0.1212	M	0.89414	3.03	0.32448	N	0.545777	B	0.21225	0.053	B	0.21151	0.033	T	0.53464	-0.8435	10	0.72032	D	0.01	-6.1268	9.3853	0.38338	0.2377:0.0:0.7623:0.0	.	213	P09913	IFIT2_HUMAN	I	213	ENSP00000360891:V213I	ENSP00000360891:V213I	V	+	1	0	IFIT2	91056330	1.000000	0.71417	0.971000	0.41717	0.698000	0.40448	2.162000	0.42367	0.393000	0.25203	0.563000	0.77884	GTC		0.502	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		17	32	0	0	0	1	0	17	32				
CSPP1	79848	broad.mit.edu	37	8	67998332	67998332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67998332G>A	ENST00000262210.5	+	4	429	c.398G>A	c.(397-399)cGt>cAt	p.R133H	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_5'Flank	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	133					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATTACAGACGTTATCTTACT	0.308																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(397-399)cGt>cAt		centrosome and spindle pole associated protein 1							112.0	108.0	109.0					8																	67998332		1818	4066	5884	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67998332G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.398G>A	8.37:g.67998332G>A	ENSP00000262210:p.Arg133His					CSPP1_ENST00000412460.1_5'UTR	p.R133H	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		4	429	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	133					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.398G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745477	0.49151	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.63255	-0.03;0.85	5.6	2.83	0.33086	.	0.000000	0.32459	U	0.006065	T	0.54398	0.1856	L	0.60455	1.87	0.80722	D	1	B;B;B	0.16802	0.019;0.007;0.007	B;B;B	0.13407	0.009;0.003;0.003	T	0.53479	-0.8433	10	0.59425	D	0.04	-0.6999	8.0742	0.30708	0.1362:0.0:0.7335:0.1303	.	133;133;133	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	H	97;133;133	ENSP00000429546:R97H;ENSP00000262210:R133H	ENSP00000262210:R133H	R	+	2	0	CSPP1	68160886	0.999000	0.42202	0.997000	0.53966	0.965000	0.64279	3.019000	0.49635	0.717000	0.32145	-0.224000	0.12420	CGT		0.308	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		34	35	0	0	0	1	0	34	35				
RALBP1	10928	broad.mit.edu	37	18	9522280	9522280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9522280G>T	ENST00000019317.4	+	4	1049	c.826G>T	c.(826-828)Gag>Tag	p.E276*	RALBP1_ENST00000383432.3_Nonsense_Mutation_p.E276*|RP11-61L19.3_ENST00000609094.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	276	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	AGACCTTCCAGAGAATTTGCT	0.473																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(826-828)Gag>Tag		ralA binding protein 1							85.0	81.0	83.0					18																	9522280		2203	4300	6503	SO:0001587	stop_gained	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9522280G>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.826G>T	18.37:g.9522280G>T	ENSP00000019317:p.Glu276*					RALBP1_ENST00000383432.3_Nonsense_Mutation_p.E276*	p.E276*			Q15311	RBP1_HUMAN			4	1049	+			276			Rho-GAP.		D3DUI0	Nonsense_Mutation	SNP	ENST00000019317.4	37	c.826G>T	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	37	6.480652	0.97603	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	.	.	.	5.08	5.08	0.68730	.	0.094459	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.3747	18.8274	0.92124	0.0:0.0:1.0:0.0	.	.	.	.	X	276	.	ENSP00000019317:E276X	E	+	1	0	RALBP1	9512280	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	9.755000	0.98912	2.521000	0.84997	0.460000	0.39030	GAG		0.473	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		7	53	1	0	0.000274275	1	0.000298791	7	53				
PCDHA6	56142	broad.mit.edu	37	5	140209489	140209489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209489G>A	ENST00000529310.1	+	1	1927	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	605	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTACAACGCGTGGCTTTC	0.652																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1813-1815)Gcg>Acg									83.0	84.0	84.0					5																	140209489		2203	4300	6503	SO:0001583	missense	0							g.chr5:140209489G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1813G>A	5.37:g.140209489G>A	ENSP00000433378:p.Ala605Thr					PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A605T	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1927	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1813G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073736	0.55646	.	.	ENSG00000081842	ENST00000529310	T	0.40225	1.04	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.72843	0.3511	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.81590	-0.0863	10	0.87932	D	0	.	13.1052	0.59244	0.0:0.0:0.8393:0.1607	.	605;605	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	605	ENSP00000433378:A605T	ENSP00000433378:A605T	A	+	1	0	PCDHA6	140189673	0.999000	0.42202	1.000000	0.80357	0.194000	0.23727	5.654000	0.67974	2.158000	0.67659	0.306000	0.20318	GCG		0.652	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		16	31	0	0	0	1	0	16	31				
SERPINB12	89777	broad.mit.edu	37	18	61225673	61225673	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61225673G>T	ENST00000269491.1	+	2	243				SERPINB12_ENST00000382768.1_Missense_Mutation_p.S86I	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12						hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGCTGACAGCTCTCTGGAG	0.443																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(256-258)aGc>aTc		serpin peptidase inhibitor, clade B (ovalbumin), member 12							53.0	54.0	53.0					18																	61225673		2203	4300	6503	SO:0001627	intron_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61225673G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.243+14G>T	18.37:g.61225673G>T						SERPINB12_ENST00000269491.1_Intron	p.S86I			Q96P63	SPB12_HUMAN			2	257	+			81					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.257G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712033	0.48517	.	.	ENSG00000166634	ENST00000382768	D	0.83992	-1.79	4.67	2.71	0.32032	.	2.117450	0.01734	N	0.029033	D	0.85639	0.5743	.	.	.	0.09310	N	1	D	0.53462	0.96	P	0.54815	0.761	T	0.68383	-0.5423	8	.	.	.	.	5.6273	0.17490	0.2502:0.0:0.7498:0.0	.	86	Q3SYB4	.	I	86	ENSP00000372218:S86I	.	S	+	2	0	SERPINB12	59376653	0.031000	0.19500	0.019000	0.16419	0.494000	0.33585	1.020000	0.30027	1.188000	0.43014	0.563000	0.77884	AGC		0.443	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		23	33	1	0	1.9806e-07	1	2.3338e-07	23	33				
CXCR6	10663	broad.mit.edu	37	3	45988627	45988627	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45988627G>A	ENST00000458629.1	+	1	2117	c.654G>A	c.(652-654)ctG>ctA	p.L218L	FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000438735.1_Silent_p.L218L|CXCR6_ENST00000304552.4_Silent_p.L218L|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Silent_p.L218L			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	218					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCAAAACACTGCTTCATGCTG	0.483																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)	ENST00000458629.1																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8						c.(652-654)ctG>ctA		chemokine (C-X-C motif) receptor 6							130.0	125.0	127.0					3																	45988627		2203	4300	6503	SO:0001819	synonymous_variant	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988627G>A	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.654G>A	3.37:g.45988627G>A						FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Silent_p.L218L|CXCR6_ENST00000438735.1_Silent_p.L218L|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Silent_p.L218L|FYCO1_ENST00000438446.1_Intron	p.L218L			O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	2117	+			218					O00575|Q9HCA5	Silent	SNP	ENST00000458629.1	37	c.654G>A	CCDS2735.1																																																																																				0.483	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			4	72	0	0	0	1	0	4	72				
SHANK3	85358	broad.mit.edu	37	22	51159495	51159495	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51159495G>T	ENST00000414786.2	+	21	3419	c.3192G>T	c.(3190-3192)aaG>aaT	p.K1064N	SHANK3_ENST00000262795.3_Missense_Mutation_p.K1094N|SHANK3_ENST00000445220.2_Missense_Mutation_p.K1080N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1078					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCCCTGAAGCCGTTGGTCA	0.726																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3190-3192)aaG>aaT		SH3 and multiple ankyrin repeat domains 3							8.0	11.0	10.0					22																	51159495		1982	4086	6068	SO:0001583	missense	85358							g.chr22:51159495G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3192G>T	22.37:g.51159495G>T	ENSP00000464552:p.Lys1064Asn					SHANK3_ENST00000445220.2_Missense_Mutation_p.K1080N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1094N	p.K1064N			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3419	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1094					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.3192G>T		.	.	.	.	.	.	.	.	.	.	G	12.45	1.940591	0.34283	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.38401	1.15;1.14	4.24	3.22	0.36961	.	0.286546	0.35585	N	0.003107	T	0.23094	0.0558	L	0.35723	1.085	0.24015	N	0.996161	P;P;P	0.43477	0.808;0.808;0.675	B;B;B	0.36464	0.173;0.225;0.133	T	0.10941	-1.0608	10	0.44086	T	0.13	.	6.5576	0.22469	0.2235:0.0:0.7765:0.0	.	1078;1079;1094	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	N	1094;1080	ENSP00000442518:K1094N;ENSP00000446078:K1080N	ENSP00000442518:K1094N	K	+	3	2	SHANK3	49506361	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.085000	0.50151	0.770000	0.33336	0.313000	0.20887	AAG		0.726	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		6	8	1	0	0.0477658	1	0.0488009	6	8				
TTC16	158248	broad.mit.edu	37	9	130493461	130493461	+	Missense_Mutation	SNP	G	G	A	rs539190621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493461G>A	ENST00000373289.3	+	14	2479	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	800										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGACTGCTCCGAAGTTCCACC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		21074	0.0		0.0	False		,,,				2504	0.001					ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(2398-2400)cGa>cAa		tetratricopeptide repeat domain 16							32.0	33.0	33.0					9																	130493461		2202	4300	6502	SO:0001583	missense	158248						binding	g.chr9:130493461G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2399G>A	9.37:g.130493461G>A	ENSP00000362386:p.Arg800Gln					TTC16_ENST00000489226.1_3'UTR	p.R800Q	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2479	+			800					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.2399G>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793586	0.31685	.	.	ENSG00000167094	ENST00000373289	T	0.32023	1.47	4.23	-2.83	0.05769	.	0.825961	0.10029	N	0.724945	T	0.19805	0.0476	L	0.43152	1.355	0.09310	N	1	B;B	0.25850	0.136;0.136	B;B	0.13407	0.009;0.009	T	0.18808	-1.0325	10	0.34782	T	0.22	0.2574	5.5857	0.17274	0.3043:0.4553:0.2404:0.0	.	787;800	B4DZ42;Q8NEE8	.;TTC16_HUMAN	Q	800	ENSP00000362386:R800Q	ENSP00000362386:R800Q	R	+	2	0	TTC16	129533282	0.001000	0.12720	0.000000	0.03702	0.237000	0.25408	-0.191000	0.09601	-0.539000	0.06273	0.462000	0.41574	CGA		0.602	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		4	25	0	0	0	1	0	4	25				
SMAD3	4088	broad.mit.edu	37	15	67477152	67477152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67477152G>A	ENST00000327367.4	+	7	1269	c.959G>A	c.(958-960)tGt>tAt	p.C320Y	SMAD3_ENST00000537194.2_Missense_Mutation_p.C125Y|SMAD3_ENST00000540846.2_Missense_Mutation_p.C215Y|SMAD3_ENST00000439724.3_Missense_Mutation_p.C276Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	320	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Sufficient for interaction with XPO4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCTCCCAACTGTAACCAGCGC	0.592																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(958-960)tGt>tAt		SMAD family member 3							126.0	108.0	114.0					15																	67477152		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67477152G>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.959G>A	15.37:g.67477152G>A	ENSP00000332973:p.Cys320Tyr					SMAD3_ENST00000439724.3_Missense_Mutation_p.C276Y|SMAD3_ENST00000540846.2_Missense_Mutation_p.C215Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.C125Y	p.C320Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	7	1269	+			320			MH2.|Sufficient for interaction with XPO4.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.959G>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118934	0.94385	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.28	5.28	0.74379	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.99461	1.0943	10	0.87932	D	0	.	18.9496	0.92637	0.0:0.0:1.0:0.0	.	276;320	B7Z4Z5;P84022	.;SMAD3_HUMAN	Y	320;320;215;276;125	ENSP00000332973:C320Y;ENSP00000437757:C215Y;ENSP00000401133:C276Y;ENSP00000445348:C125Y	ENSP00000332973:C320Y	C	+	2	0	SMAD3	65264206	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.633000	0.98432	2.469000	0.83416	0.650000	0.86243	TGT		0.592	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		11	59	0	0	0	1	0	11	59				
CCDC83	220047	broad.mit.edu	37	11	85622381	85622381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85622381G>T	ENST00000342404.3	+	8	946	c.730G>T	c.(730-732)Gca>Tca	p.A244S	CCDC83_ENST00000376067.1_Missense_Mutation_p.A145S|CCDC83_ENST00000280245.4_Missense_Mutation_p.A244S|CCDC83_ENST00000529676.2_3'UTR			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	244										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAACTGGAAGCAGAAAATTT	0.333																																						ENST00000280245.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(730-732)Gca>Tca		coiled-coil domain containing 83							111.0	122.0	118.0					11																	85622381		2203	4298	6501	SO:0001583	missense	220047							g.chr11:85622381G>T	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.730G>T	11.37:g.85622381G>T	ENSP00000344512:p.Ala244Ser					CCDC83_ENST00000342404.3_Missense_Mutation_p.A244S|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000376067.1_Missense_Mutation_p.A145S	p.A244S	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN			8	1242	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	244					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.730G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.82|12.82	2.052262|2.052262	0.36181|0.36181	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404|ENST00000526729	T;T;T|.	0.42131|.	0.98;0.98;0.98|.	5.19|5.19	4.27|4.27	0.50696|0.50696	.|.	0.360617|.	0.26723|.	N|.	0.022840|.	T|T	0.14874|0.14874	0.0359|0.0359	N|N	0.02539|0.02539	-0.55|-0.55	0.20196|0.20196	N|N	0.999921|0.999921	B;B;B|.	0.15930|.	0.0;0.015;0.015|.	B;B;B|.	0.15870|.	0.0;0.014;0.014|.	T|T	0.21211|0.21211	-1.0252|-1.0252	9|5	.|.	.|.	.|.	-6.1451|-6.1451	9.5853|9.5853	0.39512|0.39512	0.0975:0.0:0.9025:0.0|0.0975:0.0:0.9025:0.0	.|.	145;244;244|.	Q8IWF9-3;Q8IWF9;Q8IWF9-2|.	.;CCD83_HUMAN;.|.	S|N	244;145;244|149	ENSP00000280245:A244S;ENSP00000365235:A145S;ENSP00000344512:A244S|.	.|.	A|K	+|+	1|3	0|2	CCDC83|CCDC83	85300029|85300029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.752000|0.752000	0.42762|0.42762	0.995000|0.995000	0.29706|0.29706	1.173000|1.173000	0.42796|0.42796	0.467000|0.467000	0.42956|0.42956	GCA|AAG		0.333	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		26	72	1	0	7.01153e-11	1	8.6781e-11	26	72				
CP	1356	broad.mit.edu	37	3	148925399	148925399	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148925399T>C	ENST00000264613.6	-	5	1049	c.787A>G	c.(787-789)Aat>Gat	p.N263D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTGTATCCATTCACAGCTGTA	0.398																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(787-789)Aat>Gat		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						63.0	62.0	62.0					3																	148925399		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148925399T>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.787A>G	3.37:g.148925399T>C	ENSP00000264613:p.Asn263Asp						p.N263D	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1049	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	263			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.787A>G	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967192	0.92855	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.88664	-2.41;-2.41	6.05	6.05	0.98169	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96321	0.8800	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97404	0.9998	10	0.87932	D	0	-45.2388	16.5993	0.84807	0.0:0.0:0.0:1.0	.	263;263;263	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	D	263;46	ENSP00000264613:N263D;ENSP00000420545:N46D	ENSP00000264613:N263D	N	-	1	0	CP	150408089	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.574000	0.82434	2.311000	0.77944	0.528000	0.53228	AAT		0.398	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		5	61	0	0	0	1	0	5	61				
CCDC125	202243	broad.mit.edu	37	5	68616261	68616261	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68616261G>T	ENST00000396496.2	-	2	214	c.107C>A	c.(106-108)cCt>cAt	p.P36H	CCDC125_ENST00000511257.1_Intron|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Missense_Mutation_p.P36H|CCDC125_ENST00000396499.1_Missense_Mutation_p.P36H			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	36						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AATCCCACCAGGTTTCCTTCC	0.438																																						ENST00000396496.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19						c.(106-108)cCt>cAt		coiled-coil domain containing 125							128.0	126.0	127.0					5																	68616261		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68616261G>T	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.107C>A	5.37:g.68616261G>T	ENSP00000379754:p.Pro36His					CCDC125_ENST00000511257.1_Intron|CCDC125_ENST00000396499.1_Missense_Mutation_p.P36H|CCDC125_ENST00000383374.2_Missense_Mutation_p.P36H|CCDC125_ENST00000460090.1_Intron	p.P36H			Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	2	214	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	36					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.107C>A	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.001909	0.35320	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.58797	0.36;0.36;0.31	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.74688	0.3749	M	0.73598	2.24	0.36886	D	0.88964	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79818	-0.1643	10	0.52906	T	0.07	-4.2644	14.2659	0.66118	0.0:0.0:1.0:0.0	.	36;36	F8W912;Q86Z20	.;CC125_HUMAN	H	36	ENSP00000379754:P36H;ENSP00000379756:P36H;ENSP00000372865:P36H	ENSP00000372865:P36H	P	-	2	0	CCDC125	68652017	1.000000	0.71417	0.509000	0.27700	0.029000	0.11900	5.547000	0.67249	2.521000	0.84997	0.556000	0.70494	CCT		0.438	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		9	105	1	0	3.86212e-05	1	4.30401e-05	9	105				
UTP20	27340	broad.mit.edu	37	12	101720944	101720944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101720944C>T	ENST00000261637.4	+	26	3301	c.3127C>T	c.(3127-3129)Cgg>Tgg	p.R1043W		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1043					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATTGTCCTGCGGTTCCTGGC	0.478																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3127-3129)Cgg>Tgg		UTP20, small subunit (SSU) processome component, homolog (yeast)							119.0	115.0	116.0					12																	101720944		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101720944C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3127C>T	12.37:g.101720944C>T	ENSP00000261637:p.Arg1043Trp						p.R1043W	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			26	3301	+			1043					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3127C>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926283	0.52759	.	.	ENSG00000120800	ENST00000261637	T	0.23147	1.92	5.17	0.245	0.15512	Down-regulated-in-metastasis protein (1);Armadillo-type fold (1);	0.152564	0.64402	D	0.000015	T	0.50394	0.1613	M	0.87971	2.92	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.52396	-0.8581	10	0.46703	T	0.11	-17.043	10.7899	0.46426	0.5608:0.3626:0.0766:0.0	.	1043	O75691	UTP20_HUMAN	W	1043	ENSP00000261637:R1043W	ENSP00000261637:R1043W	R	+	1	2	UTP20	100245075	1.000000	0.71417	0.983000	0.44433	0.425000	0.31504	1.395000	0.34520	0.153000	0.19213	-0.856000	0.03024	CGG		0.478	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		40	53	0	0	0	1	0	40	53				
STK31	56164	broad.mit.edu	37	7	23809314	23809314	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23809314T>C	ENST00000355870.3	+	13	1771	c.1652T>C	c.(1651-1653)aTt>aCt	p.I551T	STK31_ENST00000354639.3_Missense_Mutation_p.I528T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.I551T|STK31_ENST00000428484.1_Missense_Mutation_p.I528T	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	551						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGGATAATATTGATGAAATC	0.358																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1582-1584)aTt>aCt		serine/threonine kinase 31							188.0	185.0	186.0					7																	23809314		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23809314T>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1652T>C	7.37:g.23809314T>C	ENSP00000348132:p.Ile551Thr					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.I528T|STK31_ENST00000355870.3_Missense_Mutation_p.I551T|STK31_ENST00000433467.2_Missense_Mutation_p.I551T	p.I528T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			13	2047	+			551					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1583T>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655724	0.47467	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.74315	-0.83;0.9;-0.83;-0.83	5.27	5.27	0.74061	.	0.281562	0.33382	N	0.004969	T	0.67970	0.2950	L	0.50333	1.59	0.34612	D	0.717648	B;B	0.32245	0.361;0.361	B;B	0.25140	0.058;0.058	T	0.78114	-0.2330	10	0.87932	D	0	-6.9455	14.1796	0.65564	0.0:0.0:0.0:1.0	.	551;551	B4DZ06;Q9BXU1	.;STK31_HUMAN	T	551;551;528;528	ENSP00000348132:I551T;ENSP00000411852:I551T;ENSP00000346660:I528T;ENSP00000406146:I528T	ENSP00000346660:I528T	I	+	2	0	STK31	23775839	1.000000	0.71417	0.999000	0.59377	0.805000	0.45488	4.997000	0.63921	2.004000	0.58718	0.533000	0.62120	ATT		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		13	219	0	0	0	1	0	13	219				
KCNJ16	3773	broad.mit.edu	37	17	68129385	68129385	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129385C>A	ENST00000589377.1	+	2	1320	c.1157C>A	c.(1156-1158)cCt>cAt	p.P386H	KCNJ16_ENST00000586462.1_Missense_Mutation_p.P425H|KCNJ16_ENST00000585558.1_Missense_Mutation_p.P421H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P386H	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	386					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGTGAAAACCCTGAGGAGACC	0.468																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(1261-1263)cCt>cAt		potassium inwardly-rectifying channel, subfamily J, member 16							97.0	83.0	88.0					17																	68129385		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129385C>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.1157C>A	17.37:g.68129385C>A	ENSP00000465967:p.Pro386His					KCNJ16_ENST00000392671.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P425H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P386H	p.P421H			Q9NPI9	IRK16_HUMAN			4	1650	+	Breast(10;2.96e-09)		386						Missense_Mutation	SNP	ENST00000589377.1	37	c.1262C>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260165	0.39995	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.89617	-2.54;-2.54;-2.54	5.8	4.82	0.62117	.	0.753337	0.11927	N	0.516068	D	0.88239	0.6383	L	0.27053	0.805	0.37936	D	0.932158	D;P	0.62365	0.991;0.951	P;P	0.52710	0.707;0.541	D	0.86063	0.1533	9	.	.	.	.	16.595	0.84794	0.0:0.8695:0.1305:0.0	.	386;386	A8K434;Q9NPI9	.;IRK16_HUMAN	H	386	ENSP00000283936:P386H;ENSP00000376439:P386H;ENSP00000376438:P386H	.	P	+	2	0	KCNJ16	65640980	0.502000	0.26107	0.812000	0.32479	0.065000	0.16274	2.058000	0.41374	1.428000	0.47296	0.591000	0.81541	CCT		0.468	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		7	54	1	0	0.248553	1	0.25002	7	54				
SLC16A5	9121	broad.mit.edu	37	17	73096509	73096509	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73096509G>A	ENST00000450736.2	+	4	1166	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SLC16A5_ENST00000329783.4_Missense_Mutation_p.G251S|SLC16A5_ENST00000538213.2_Missense_Mutation_p.G291S|SLC16A5_ENST00000580123.1_Missense_Mutation_p.G251S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	251					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTCCGTCCTGGGCTTCCCACT	0.607																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(751-753)Ggc>Agc		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						290.0	234.0	253.0					17																	73096509		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096509G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.751G>A	17.37:g.73096509G>A	ENSP00000390564:p.Gly251Ser					SLC16A5_ENST00000580123.1_Missense_Mutation_p.G251S|SLC16A5_ENST00000329783.4_Missense_Mutation_p.G251S|SLC16A5_ENST00000538213.2_Missense_Mutation_p.G291S	p.G251S			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1166	+	all_lung(278;0.226)		251					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.751G>A	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715428	0.68844	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	D;D;D	0.81659	-1.52;-1.52;-1.52	4.64	4.64	0.57946	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91252	0.5030	10	0.59425	D	0.04	.	17.8925	0.88877	0.0:0.0:1.0:0.0	.	291;251	B4E288;O15375	.;MOT6_HUMAN	S	251;251;291	ENSP00000330141:G251S;ENSP00000390564:G251S;ENSP00000440212:G291S	ENSP00000330141:G251S	G	+	1	0	SLC16A5	70608104	1.000000	0.71417	0.181000	0.23098	0.073000	0.16967	9.700000	0.98707	2.292000	0.77174	0.561000	0.74099	GGC		0.607	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		108	153	0	0	0	1	0	108	153				
AFF2	2334	broad.mit.edu	37	X	148037907	148037907	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037907T>G	ENST00000370460.2	+	11	2811	c.2332T>G	c.(2332-2334)Ttt>Gtt	p.F778V	AFF2_ENST00000286437.5_Missense_Mutation_p.F419V|AFF2_ENST00000342251.3_Missense_Mutation_p.F745V|AFF2_ENST00000370457.5_Missense_Mutation_p.F745V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	778					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACATTTTCACCTAT	0.458																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2332-2334)Ttt>Gtt		AF4/FMR2 family, member 2							123.0	108.0	113.0					X																	148037907		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037907T>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2332T>G	X.37:g.148037907T>G	ENSP00000359489:p.Phe778Val					AFF2_ENST00000342251.3_Missense_Mutation_p.F745V|AFF2_ENST00000286437.5_Missense_Mutation_p.F419V|AFF2_ENST00000370457.5_Missense_Mutation_p.F745V	p.F778V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2811	+	Acute lymphoblastic leukemia(192;6.56e-05)		778					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2332T>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.814042	0.32053	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.73469	-0.13;-0.4;-0.4;-0.75	5.6	4.44	0.53790	.	0.685747	0.14817	N	0.296708	T	0.66973	0.2844	L	0.52126	1.63	0.43160	D	0.994949	B;P;P;P;P;P	0.36683	0.379;0.51;0.51;0.51;0.51;0.565	B;B;B;B;B;B	0.37015	0.239;0.154;0.154;0.154;0.154;0.239	T	0.56811	-0.7917	10	0.15952	T	0.53	.	10.6182	0.45462	0.0:0.0761:0.0:0.9239	.	419;743;745;739;768;778	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	778;745;745;419	ENSP00000359489:F778V;ENSP00000359486:F745V;ENSP00000345459:F745V;ENSP00000286437:F419V	ENSP00000286437:F419V	F	+	1	0	AFF2	147845607	0.997000	0.39634	0.006000	0.13384	0.025000	0.11179	3.110000	0.50352	0.754000	0.32968	0.486000	0.48141	TTT		0.458	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		5	75	0	0	0	1	0	5	75				
CELSR2	1952	broad.mit.edu	37	1	109793483	109793483	+	Missense_Mutation	SNP	C	C	T	rs41279702		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109793483C>T	ENST00000271332.3	+	1	843	c.782C>T	c.(781-783)gCg>gTg	p.A261V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	261	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGGTCACGGCGCAGGACCAC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18485	0.0		0.001	False		,,,				2504	0.0				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(781-783)gCg>gTg		cadherin, EGF LAG seven-pass G-type receptor 2							115.0	94.0	101.0					1																	109793483		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793483C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.782C>T	1.37:g.109793483C>T	ENSP00000271332:p.Ala261Val						p.A261V	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	843	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	261			Cadherin 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.782C>T	CCDS796.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	N	15.04	2.714133	0.48622	.	.	ENSG00000143126	ENST00000271332	T	0.60797	0.16	4.85	0.919	0.19392	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48840	0.1522	M	0.74258	2.255	0.48571	D	0.999678	D	0.54601	0.967	P	0.49047	0.599	T	0.52320	-0.8591	9	0.49607	T	0.09	.	10.34	0.43873	0.0:0.7272:0.0:0.2728	rs41279702	261	Q9HCU4	CELR2_HUMAN	V	261	ENSP00000271332:A261V	ENSP00000271332:A261V	A	+	2	0	CELSR2	109595006	0.982000	0.34865	0.002000	0.10522	0.693000	0.40251	2.623000	0.46435	0.007000	0.14760	-1.423000	0.01107	GCG		0.587	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		33	22	0	0	0	1	0	33	22				
METTL22	79091	broad.mit.edu	37	16	8729111	8729111	+	Silent	SNP	C	C	T	rs377634718		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8729111C>T	ENST00000381920.3	+	5	900	c.642C>T	c.(640-642)gcC>gcT	p.A214A	METTL22_ENST00000561758.1_Silent_p.A158A|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	214						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						AGCTCGGGGCCGGCACGGGGC	0.612																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(640-642)gcC>gcT		methyltransferase like 22							47.0	53.0	51.0					16																	8729111		2023	4185	6208	SO:0001819	synonymous_variant	79091						methyltransferase activity	g.chr16:8729111C>T	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.642C>T	16.37:g.8729111C>T						METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Silent_p.A158A	p.A214A	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			5	900	+			214					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Silent	SNP	ENST00000381920.3	37	c.642C>T	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588081	0.28268	.	.	ENSG00000067365	ENST00000163678	T	0.53206	0.63	4.69	-9.38	0.00623	.	.	.	.	.	T	0.41190	0.1148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59663	-0.7412	6	0.87932	D	0	-26.1488	3.6433	0.08176	0.5781:0.082:0.1261:0.2138	.	.	.	.	W	201	ENSP00000163678:R201W	ENSP00000163678:R201W	R	+	1	2	METTL22	8636612	0.000000	0.05858	0.464000	0.27143	0.399000	0.30720	-3.198000	0.00561	-1.958000	0.01019	-1.175000	0.01729	CGG		0.612	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		35	41	0	0	0	1	0	35	41				
LRAT	9227	broad.mit.edu	37	4	155665697	155665697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665697G>A	ENST00000336356.3	+	2	472	c.219G>A	c.(217-219)atG>atA	p.M73I	LRAT_ENST00000507827.1_Missense_Mutation_p.M73I	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	73					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TTGCCCACATGATGCCCGACA	0.587																																						ENST00000336356.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16						c.(217-219)atG>atA		lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	Vitamin A(DB00162)						90.0	86.0	87.0					4																	155665697		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665697G>A	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.219G>A	4.37:g.155665697G>A	ENSP00000337224:p.Met73Ile					LRAT_ENST00000507827.1_Missense_Mutation_p.M73I	p.M73I	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN			2	472	+	all_hematologic(180;0.215)	Renal(120;0.0458)	73					A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.219G>A	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809887	0.50421	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.20738	2.05;2.05	5.4	1.86	0.25419	.	0.201968	0.43260	D	0.000586	T	0.13500	0.0327	L	0.28556	0.865	0.27980	N	0.93608	B	0.19073	0.033	B	0.15052	0.012	T	0.14254	-1.0479	10	0.54805	T	0.06	-20.1945	7.0999	0.25332	0.1087:0.3072:0.5841:0.0	.	73	O95237	LRAT_HUMAN	I	73	ENSP00000426761:M73I;ENSP00000337224:M73I	ENSP00000337224:M73I	M	+	3	0	LRAT	155885147	0.996000	0.38824	0.997000	0.53966	0.979000	0.70002	0.354000	0.20146	0.327000	0.23409	0.655000	0.94253	ATG		0.587	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		4	42	0	0	0	1	0	4	42				
SEL1L	6400	broad.mit.edu	37	14	81945967	81945967	+	Missense_Mutation	SNP	G	G	A	rs529831221		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81945967G>A	ENST00000336735.4	-	20	2280	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	722	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTGTTTCCCGTATGTACTGC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17749	0.0		0.0	False		,,,				2504	0.0					ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(2164-2166)Cgg>Tgg		sel-1 suppressor of lin-12-like (C. elegans)							92.0	90.0	91.0					14																	81945967		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81945967G>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2164C>T	14.37:g.81945967G>A	ENSP00000337053:p.Arg722Trp						p.R722W	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	20	2280	-			722			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.2164C>T	CCDS9876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257421|4.257421	0.80246|0.80246	.|.	.|.	ENSG00000071537|ENSG00000071537	ENST00000336735|ENST00000261258	T|.	0.29397|.	1.57|.	6.04|6.04	0.515|0.515	0.17013|0.17013	.|.	0.176403|.	0.51477|.	D|.	0.000086|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.46452|.	0.517|.	T|T	0.58912|0.58912	-0.7552|-0.7552	10|6	0.38643|0.59425	T|D	0.18|0.04	.|.	10.6744|10.6744	0.45776|0.45776	0.0626:0.0:0.337:0.6004|0.0626:0.0:0.337:0.6004	.|.	722|.	Q9UBV2|.	SE1L1_HUMAN|.	W|M	722|82	ENSP00000337053:R722W|.	ENSP00000337053:R722W|ENSP00000261258:T82M	R|T	-|-	1|2	2|0	SEL1L|SEL1L	81015720|81015720	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.962000|0.962000	0.63368|0.63368	2.536000|2.536000	0.45693|0.45693	0.091000|0.091000	0.17302|0.17302	0.563000|0.563000	0.77884|0.77884	CGG|ACG		0.443	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		29	44	0	0	0	1	0	29	44				
UGT2A1	10941	broad.mit.edu	37	4	70512793	70512793	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512793A>C	ENST00000503640.1	-	1	625	c.570T>G	c.(568-570)ccT>ccG	p.P190P	UGT2A1_ENST00000514019.1_Silent_p.P190P|UGT2A1_ENST00000286604.4_Silent_p.P190P|UGT2A1_ENST00000512704.1_Silent_p.P190P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	190					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAACATAGGAAGGAGGGTATG	0.408																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(568-570)ccT>ccG		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							95.0	81.0	86.0					4																	70512793		2203	4299	6502	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70512793A>C	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.570T>G	4.37:g.70512793A>C						UGT2A1_ENST00000286604.4_Silent_p.P190P|UGT2A1_ENST00000514019.1_Silent_p.P190P|UGT2A1_ENST00000512704.1_Silent_p.P190P	p.P190P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			1	625	-			190					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.570T>G	CCDS3529.1																																																																																				0.408	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		8	62	0	0	0	1	0	8	62				
PPP1R9A	55607	broad.mit.edu	37	7	94539849	94539849	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94539849A>C	ENST00000433881.1	+	2	956	c.424A>C	c.(424-426)Act>Cct	p.T142P	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T142P|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T142P|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T142P|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T142P|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T142P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	142	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTCACTGAGACTCGAAAGAT	0.428										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(424-426)Act>Cct		protein phosphatase 1, regulatory subunit 9A							139.0	133.0	135.0					7																	94539849		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539849A>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.424A>C	7.37:g.94539849A>C	ENSP00000398870:p.Thr142Pro	HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T142P|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T142P|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T142P|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T142P|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T142P	p.T142P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	640	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		142			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.424A>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509625	0.44660	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96769	0.8945	M	0.83603	2.65	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.941;0.996;0.996;0.997;0.997	D	0.96888	0.9651	9	.	.	.	.	16.1952	0.82023	1.0:0.0:0.0:0.0	.	142;142;142;142;142	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	P	142	ENSP00000405514:T142P;ENSP00000344524:T142P;ENSP00000411342:T142P;ENSP00000398870:T142P;ENSP00000289495:T142P;ENSP00000402893:T142P	.	T	+	1	0	PPP1R9A	94377785	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	8.962000	0.93254	2.289000	0.77006	0.482000	0.46254	ACT		0.428	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		4	160	0	0	0	1	0	4	160				
PDZD4	57595	broad.mit.edu	37	X	153069203	153069203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069203G>A	ENST00000164640.4	-	8	2106	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W	PDZD4_ENST00000393758.2_Missense_Mutation_p.R564W|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.R530W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	639						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCACGGGCCGCTTGGCCACG	0.682																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1915-1917)Cgg>Tgg		PDZ domain containing 4							39.0	39.0	39.0					X																	153069203		2199	4282	6481	SO:0001583	missense	57595					cell cortex		g.chrX:153069203G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1915C>T	X.37:g.153069203G>A	ENSP00000164640:p.Arg639Trp					PDZD4_ENST00000544474.1_Missense_Mutation_p.R530W|PDZD4_ENST00000393758.2_Missense_Mutation_p.R564W	p.R639W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	2106	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		639					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1915C>T	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125395	0.56721	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.54675	0.56;0.56;0.56	5.67	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.77122	-0.2704	10	0.87932	D	0	-31.6838	12.367	0.55234	0.0:0.0:0.5629:0.4371	.	530;645;639;564;543	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	W	639;564;543;530	ENSP00000164640:R639W;ENSP00000377355:R564W;ENSP00000442033:R530W	ENSP00000164640:R639W	R	-	1	2	PDZD4	152722397	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	0.664000	0.25068	0.500000	0.27991	0.529000	0.55759	CGG		0.682	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		26	41	0	0	0	1	0	26	41				
TPO	7173	broad.mit.edu	37	2	1491744	1491744	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1491744C>T	ENST00000345913.4	+	10	1840	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	TPO_ENST00000346956.3_Silent_p.G583G|TPO_ENST00000329066.4_Silent_p.G583G|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.G410G|TPO_ENST00000337415.3_Silent_p.G583G|TPO_ENST00000349624.3_Silent_p.G410G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	583					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCAGAGGGGCCGGGACCACG	0.592																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1747-1749)ggC>ggT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						91.0	86.0	88.0					2																	1491744		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1491744C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1749C>T	2.37:g.1491744C>T						TPO_ENST00000329066.4_Silent_p.G583G|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.G583G|TPO_ENST00000349624.3_Silent_p.G410G|TPO_ENST00000382201.3_Intron|TPO_ENST00000337415.3_Silent_p.G583G|TPO_ENST00000382198.1_Silent_p.G410G	p.G583G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	10	1840	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	583					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1749C>T	CCDS1643.1																																																																																				0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		12	41	0	0	0	1	0	12	41				
FGF5	2250	broad.mit.edu	37	4	81188215	81188215	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81188215C>A	ENST00000312465.7	+	1	463	c.237C>A	c.(235-237)ttC>ttA	p.F79L	FGF5_ENST00000456523.3_Missense_Mutation_p.F79L	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	79					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAGCAGTTTCCAGTGGAGCC	0.612																																						ENST00000456523.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(235-237)ttC>ttA		fibroblast growth factor 5							51.0	58.0	56.0					4																	81188215		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188215C>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.237C>A	4.37:g.81188215C>A	ENSP00000311697:p.Phe79Leu					FGF5_ENST00000312465.7_Missense_Mutation_p.F79L	p.F79L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN			1	423	+			79					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.237C>A	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894692	0.33442	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.06768	3.26;3.26	5.41	2.52	0.30459	.	1.463380	0.04253	N	0.338987	T	0.06962	0.0177	L	0.34521	1.04	0.27805	N	0.94235	P;B	0.51537	0.946;0.016	B;B	0.39503	0.301;0.017	T	0.21793	-1.0235	10	0.07813	T	0.8	.	9.4018	0.38437	0.0:0.6835:0.0:0.3165	.	79;79	P12034-2;P12034	.;FGF5_HUMAN	L	79	ENSP00000311697:F79L;ENSP00000398353:F79L	ENSP00000311697:F79L	F	+	3	2	FGF5	81407239	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.010000	0.29898	0.828000	0.34709	0.561000	0.74099	TTC		0.612	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			32	62	1	0	1.47244e-24	1	1.95393e-24	32	62				
IFIT3	3437	broad.mit.edu	37	10	91098617	91098617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91098617G>A	ENST00000371818.4	+	2	385	c.205G>A	c.(205-207)Gca>Aca	p.A69T	IFIT3_ENST00000371811.4_Missense_Mutation_p.A69T|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	69					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TAACAACGAGGCAGCCCTGGA	0.428																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(205-207)Gca>Aca		interferon-induced protein with tetratricopeptide repeats 3							101.0	99.0	100.0					10																	91098617		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91098617G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.205G>A	10.37:g.91098617G>A	ENSP00000360883:p.Ala69Thr					LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A69T|LIPA_ENST00000487618.1_Intron	p.A69T	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	385	+			69					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.205G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046695	0.36085	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	D;D	0.94232	-3.38;-3.38	4.44	4.44	0.53790	Tetratricopeptide-like helical (1);	0.275755	0.35378	N	0.003258	D	0.94188	0.8135	M	0.70275	2.135	0.09310	N	1	P	0.45768	0.866	P	0.51453	0.67	D	0.88953	0.3388	10	0.56958	D	0.05	-5.081	12.733	0.57208	0.0839:0.0:0.9161:0.0	.	69	O14879	IFIT3_HUMAN	T	69	ENSP00000360883:A69T;ENSP00000360876:A69T	ENSP00000360876:A69T	A	+	1	0	IFIT3	91088597	1.000000	0.71417	0.072000	0.20136	0.068000	0.16541	3.319000	0.51983	2.746000	0.94184	0.555000	0.69702	GCA		0.428	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		38	47	0	0	0	1	0	38	47				
GAA	2548	broad.mit.edu	37	17	78079616	78079616	+	Silent	SNP	G	G	A	rs141427808		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78079616G>A	ENST00000302262.3	+	3	834	c.615G>A	c.(613-615)ccG>ccA	p.P205P	GAA_ENST00000390015.3_Silent_p.P205P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	205					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GCCGGGCACCGTCCCCACTCT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17381	0.0		0.0	False		,,,				2504	0.001					ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(613-615)ccG>ccA		glucosidase, alpha; acid	Acarbose(DB00284)	G	,,	0,4406		0,0,2203	55.0	53.0	54.0		615,615,615	-4.7	0.0	17	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	205/953,205/953,205/953	78079616	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78079616G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.615G>A	17.37:g.78079616G>A						GAA_ENST00000390015.3_Silent_p.P205P	p.P205P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		3	834	+	all_neural(118;0.117)		205					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.615G>A	CCDS32760.1																																																																																				0.622	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			6	49	0	0	0	1	0	6	49				
PRRC2B	84726	broad.mit.edu	37	9	134371213	134371213	+	Silent	SNP	C	C	T	rs200620118		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134371213C>T	ENST00000357304.4	+	31	6697	c.6642C>T	c.(6640-6642)acC>acT	p.T2214T	PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000405995.1_Silent_p.T1520T|PRRC2B_ENST00000458550.1_Silent_p.T1520T|PRRC2B_ENST00000372249.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2214							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGAAGCGAACCGGAGCGATCA	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17134	0.0		0.0	False		,,,				2504	0.0					ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(6640-6642)acC>acT		proline-rich coiled-coil 2B							48.0	55.0	53.0					9																	134371213		1990	4166	6156	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134371213C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6642C>T	9.37:g.134371213C>T						PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000405995.1_Silent_p.T1520T|PRRC2B_ENST00000458550.1_Silent_p.T1520T	p.T2214T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			31	6697	+			2214					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.6642C>T	CCDS48044.1																																																																																				0.617	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	31	0	0	0	1	0	4	31				
WDR70	55100	broad.mit.edu	37	5	37721297	37721297	+	Silent	SNP	C	C	T	rs112595440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37721297C>T	ENST00000265107.4	+	14	1653	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	499							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTCTATTACGACCCCAACA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19296	0.001		0.0	False		,,,				2504	0.0					ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1495-1497)taC>taT		WD repeat domain 70		C		4,4402	8.1+/-20.4	0,4,2199	133.0	126.0	129.0		1497	-2.8	1.0	5	dbSNP_132	129	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WDR70	NM_018034.2		0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461		499/655	37721297	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37721297C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1497C>T	5.37:g.37721297C>T							p.Y499Y	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		14	1653	+	all_lung(31;0.000285)		499					Q9H053	Silent	SNP	ENST00000265107.4	37	c.1497C>T	CCDS34147.1																																																																																				0.468	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		33	47	0	0	0	1	0	33	47				
AKR1C2	1646	broad.mit.edu	37	10	5043827	5043827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5043827G>A	ENST00000380753.4	-	2	318	c.131C>T	c.(130-132)gCc>gTc	p.A44V	AKR1C2_ENST00000407674.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000421196.3_Missense_Mutation_p.A44V|AKR1C2_ENST00000455190.1_Missense_Mutation_p.A44V	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	44					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	GTGGAACCCGGCTTCTATTGC	0.448																																						ENST00000380753.4																			0				breast(1)|large_intestine(5)|lung(3)|skin(1)	10						c.(130-132)gCc>gTc		aldo-keto reductase family 1, member C2	NADH(DB00157)|Ursodeoxycholic acid(DB01586)						124.0	116.0	119.0					10																	5043827		2203	4300	6503	SO:0001583	missense	1646				digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5043827G>A	L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.131C>T	10.37:g.5043827G>A	ENSP00000370129:p.Ala44Val					AKR1C2_ENST00000407674.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000455190.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000421196.3_Missense_Mutation_p.A44V	p.A44V	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN			2	318	-			44					A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	ENST00000380753.4	37	c.131C>T	CCDS7062.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.042155	0.00402	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674;ENST00000455190	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	2.31	-4.62	0.03370	NADP-dependent oxidoreductase domain (3);	0.849137	0.09698	N	0.767387	T	0.09113	0.0225	N	0.04705	-0.18	0.09310	N	1	B;B;B	0.19583	0.037;0.001;0.001	B;B;B	0.24394	0.053;0.003;0.006	T	0.25152	-1.0140	10	0.02654	T	1	.	1.6887	0.02847	0.4202:0.1329:0.3137:0.1333	.	44;44;44	B4DKR9;B4DK69;P52895	.;.;AK1C2_HUMAN	V	44	ENSP00000370129:A44V;ENSP00000392694:A44V;ENSP00000385221:A44V;ENSP00000408440:A44V	ENSP00000370129:A44V	A	-	2	0	AKR1C2	5033827	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.594000	0.05733	-2.135000	0.00811	-1.050000	0.02344	GCC		0.448	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354		36	58	0	0	0	1	0	36	58				
PPP2R3C	55012	broad.mit.edu	37	14	35576557	35576557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35576557C>A	ENST00000261475.5	-	6	879	c.526G>T	c.(526-528)Gga>Tga	p.G176*		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	176					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AAACTGAGTCCTATTCTTGTT	0.333																																						ENST00000261475.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(526-528)Gga>Tga		protein phosphatase 2, regulatory subunit B'', gamma							98.0	99.0	99.0					14																	35576557		2203	4299	6502	SO:0001587	stop_gained	55012					centrosome|nucleus	calcium ion binding	g.chr14:35576557C>A	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.526G>T	14.37:g.35576557C>A	ENSP00000261475:p.Gly176*						p.G176*	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	6	879	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		176					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Nonsense_Mutation	SNP	ENST00000261475.5	37	c.526G>T	CCDS9654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.356588|4.356588	0.82243|0.82243	.|.	.|.	ENSG00000092020|ENSG00000092020	ENST00000261475;ENST00000554361|ENST00000555614	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76234	.|0.3959	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74402	.|-0.3677	.|4	0.10636|.	T|.	0.68|.	-8.8462|-8.8462	19.5549|19.5549	0.95342|0.95342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	176;148|104	.|.	ENSP00000261475:G176X|.	G|R	-|-	1|2	0|0	PPP2R3C|PPP2R3C	34646308|34646308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.056000|7.056000	0.76662|0.76662	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.333	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		33	52	1	0	6.29468e-14	1	8.01189e-14	33	52				
RASGRF1	5923	broad.mit.edu	37	15	79382709	79382709	+	Silent	SNP	G	G	A	rs548525610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79382709G>A	ENST00000419573.3	-	1	406	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RASGRF1_ENST00000558480.2_Silent_p.F44F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	44	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCAGCGCGAACCACTTGG	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15913	0.0		0.0	False		,,,				2504	0.0					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(130-132)ttC>ttT		Ras protein-specific guanine nucleotide-releasing factor 1							161.0	121.0	134.0					15																	79382709		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79382709G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.132C>T	15.37:g.79382709G>A						RASGRF1_ENST00000558480.2_Silent_p.F44F	p.F44F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			1	406	-			44			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.132C>T	CCDS10309.1																																																																																				0.642	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		37	58	0	0	0	1	0	37	58				
JAG2	3714	broad.mit.edu	37	14	105609257	105609257	+	Silent	SNP	C	C	T	rs375025132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105609257C>T	ENST00000331782.3	-	26	3895	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_ENST00000347004.2_Silent_p.A1126A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1164					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3490-3492)gcG>gcA		jagged 2		C	,	0,4362		0,0,2181	13.0	14.0	14.0		3492,3378	-0.1	0.8	14		14	1,8519		0,1,4259	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	,	1164/1239,1126/1201	105609257	1,12881	2181	4260	6441	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609257C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3492G>A	14.37:g.105609257C>T						JAG2_ENST00000347004.2_Silent_p.A1126A	p.A1164A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3895	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1164					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.3492G>A	CCDS9998.1																																																																																				0.706	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			10	4	0	0	0	1	0	10	4				
PRKDC	5591	broad.mit.edu	37	8	48749833	48749833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48749833G>A	ENST00000314191.2	-	58	7754	c.7698C>T	c.(7696-7698)agC>agT	p.S2566S	PRKDC_ENST00000338368.3_Silent_p.S2566S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2567	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTGGGCTCATGCTGGTCATTT	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7696-7698)agC>agT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							86.0	84.0	84.0					8																	48749833		1845	4097	5942	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48749833G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7698C>T	8.37:g.48749833G>A						PRKDC_ENST00000338368.3_Silent_p.S2566S|PRKDC_ENST00000523565.1_5'UTR	p.S2566S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			58	7754	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2567			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.7698C>T																																																																																					0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		11	18	0	0	0	1	0	11	18				
TACC2	10579	broad.mit.edu	37	10	123846534	123846534	+	Missense_Mutation	SNP	C	C	T	rs201773248		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846534C>T	ENST00000369005.1	+	4	4859	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.R1507W|TACC2_ENST00000334433.3_Missense_Mutation_p.R1507W|TACC2_ENST00000515603.1_Missense_Mutation_p.R1507W|TACC2_ENST00000515273.1_Missense_Mutation_p.R1507W|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1507					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACCTGGGAGCGGAACTTGCC	0.622																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4519-4521)Cgg>Tgg		transforming, acidic coiled-coil containing protein 2							46.0	47.0	47.0					10																	123846534		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846534C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4519C>T	10.37:g.123846534C>T	ENSP00000358001:p.Arg1507Trp					TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R1507W|TACC2_ENST00000515273.1_Missense_Mutation_p.R1507W|TACC2_ENST00000453444.2_Missense_Mutation_p.R1507W|TACC2_ENST00000515603.1_Missense_Mutation_p.R1507W	p.R1507W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	4859	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1507					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.4519C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606268	0.28623	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03212	4.05;4.01;4.04;4.05;4.01	5.09	1.86	0.25419	.	0.293852	0.18623	N	0.135817	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44034	-0.9354	10	0.56958	D	0.05	-0.0053	3.3668	0.07206	0.1642:0.4:0.3423:0.0936	.	1507;1507;1507	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	W	1507;1507;1507;1507;1507;1497	ENSP00000358001:R1507W;ENSP00000424467:R1507W;ENSP00000427618:R1507W;ENSP00000334280:R1507W;ENSP00000395048:R1507W	ENSP00000334280:R1507W	R	+	1	2	TACC2	123836524	0.004000	0.15560	0.004000	0.12327	0.010000	0.07245	1.066000	0.30604	0.471000	0.27319	0.448000	0.29417	CGG		0.622	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			9	37	0	0	0	1	0	9	37				
WWP1	11059	broad.mit.edu	37	8	87447713	87447713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87447713G>A	ENST00000517970.1	+	15	1941	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	WWP1_ENST00000349423.2_Missense_Mutation_p.R327H|WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000265428.4_Missense_Mutation_p.R545H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	545					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTATGAACGCGGCTTTAGG	0.299																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(1633-1635)cGc>cAc		WW domain containing E3 ubiquitin protein ligase 1							88.0	89.0	89.0					8																	87447713		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87447713G>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1634G>A	8.37:g.87447713G>A	ENSP00000427793:p.Arg545His					WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000265428.4_Missense_Mutation_p.R545H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H	p.R545H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			15	1941	+			545					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.1634G>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069886	0.76301	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.55052	0.54;0.54;0.61;0.62	5.58	5.58	0.84498	HECT (1);	0.057189	0.64402	D	0.000001	T	0.66096	0.2755	M	0.93678	3.445	0.80722	D	1	B;B	0.27286	0.021;0.174	B;B	0.15484	0.004;0.013	T	0.71224	-0.4656	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	327;545	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	H	545;545;415;327	ENSP00000427793:R545H;ENSP00000265428:R545H;ENSP00000340564:R415H;ENSP00000342665:R327H	ENSP00000265428:R545H	R	+	2	0	WWP1	87516829	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.412000	0.97347	2.615000	0.88500	0.555000	0.69702	CGC		0.299	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		23	34	0	0	0	1	0	23	34				
ZNF776	284309	broad.mit.edu	37	19	58262160	58262160	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58262160T>C	ENST00000317178.5	+	2	304	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ZNF776_ENST00000431353.1_Missense_Mutation_p.V14A|AC003006.7_ENST00000594684.1_Missense_Mutation_p.V14A	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CAGGGCACTGTGACCTTTGAA	0.498																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(40-42)gTg>gCg		zinc finger protein 776							224.0	171.0	187.0					19																	58262160		692	1591	2283	SO:0001583	missense	284309							g.chr19:58262160T>C	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.41T>C	19.37:g.58262160T>C	ENSP00000321812:p.Val14Ala					ZNF776_ENST00000431353.1_Missense_Mutation_p.V14A	p.V14A	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	2	304	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.41T>C	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282796	0.40394	.	.	ENSG00000152443	ENST00000317178;ENST00000431353	T;T	0.05717	3.4;3.4	1.5	1.5	0.22942	Krueppel-associated box (4);	.	.	.	.	T	0.35799	0.0944	H	0.98883	4.36	0.09310	N	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.965;0.998	T	0.16247	-1.0409	9	0.72032	D	0.01	.	5.0912	0.14710	0.0:0.0:0.0:1.0	.	14;14	Q68DI1;B4DSC6	ZN776_HUMAN;.	A	14	ENSP00000321812:V14A;ENSP00000405772:V14A	ENSP00000321812:V14A	V	+	2	0	ZNF776	62953972	0.885000	0.30320	0.199000	0.23439	0.879000	0.50718	3.442000	0.52900	0.950000	0.37743	0.260000	0.18958	GTG		0.498	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		7	54	0	0	0	1	0	7	54				
YTHDC2	64848	broad.mit.edu	37	5	112927863	112927863	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112927863C>T	ENST00000161863.4	+	28	4413	c.4200C>T	c.(4198-4200)agC>agT	p.S1400S		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1400	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGCAGATAAGCAGGGATGGGC	0.358																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(4198-4200)agC>agT		YTH domain containing 2							78.0	76.0	77.0					5																	112927863		2202	4300	6502	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112927863C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.4200C>T	5.37:g.112927863C>T							p.S1400S	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	28	4413	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1400			YTH.		B2RP66	Silent	SNP	ENST00000161863.4	37	c.4200C>T	CCDS4113.1																																																																																				0.358	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		8	13	0	0	0	1	0	8	13				
DFNA5	1687	broad.mit.edu	37	7	24749948	24749948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24749948C>T	ENST00000342947.3	-	6	1182	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000545231.1_Missense_Mutation_p.V89I|DFNA5_ENST00000409775.3_Missense_Mutation_p.V253I|DFNA5_ENST00000419307.1_Missense_Mutation_p.V89I|DFNA5_ENST00000409970.1_Missense_Mutation_p.V89I	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	253					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCCAGGTAGACAGAGTCAATT	0.468																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(265-267)Gtc>Atc		deafness, autosomal dominant 5							117.0	113.0	114.0					7																	24749948		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24749948C>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.757G>A	7.37:g.24749948C>T	ENSP00000339587:p.Val253Ile					DFNA5_ENST00000409970.1_Missense_Mutation_p.V89I|DFNA5_ENST00000342947.3_Missense_Mutation_p.V253I|DFNA5_ENST00000419307.1_Missense_Mutation_p.V89I|DFNA5_ENST00000409775.3_Missense_Mutation_p.V253I|DFNA5_ENST00000559637.1_5'UTR	p.V89I			O60443	DFNA5_HUMAN			8	1415	-			253					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.265G>A	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.261925	0.23051	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.47	-0.00536	0.14018	.	0.481369	0.19724	N	0.107503	T	0.14141	0.0342	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.14282	-1.0478	10	0.36615	T	0.2	-6.1984	0.9142	0.01300	0.2193:0.4018:0.1284:0.2504	.	253	O60443	DFNA5_HUMAN	I	253;89;89;89;253	ENSP00000339587:V253I;ENSP00000401332:V89I;ENSP00000442661:V89I;ENSP00000387119:V89I;ENSP00000386670:V253I	ENSP00000339587:V253I	V	-	1	0	DFNA5	24716473	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-0.459000	0.06728	0.237000	0.21200	0.563000	0.77884	GTC		0.468	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		65	38	0	0	0	1	0	65	38				
OR5A2	219981	broad.mit.edu	37	11	59190336	59190336	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59190336A>C	ENST00000302040.4	-	1	113	c.91T>G	c.(91-93)Tta>Gta	p.L31V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCCAGAAATAACATGAAAAGG	0.453																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(91-93)Tta>Gta		olfactory receptor, family 5, subfamily A, member 2							111.0	100.0	104.0					11																	59190336		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190336A>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.91T>G	11.37:g.59190336A>C	ENSP00000303834:p.Leu31Val						p.L31V	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	113	-			31					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.91T>G	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	A	5.104	0.204751	0.09704	.	.	ENSG00000172324	ENST00000302040	T	0.16743	2.32	5.3	-7.36	0.01417	.	0.809644	0.09615	U	0.778414	T	0.03305	0.0096	N	0.01874	-0.695	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.38200	-0.9672	10	0.11485	T	0.65	.	0.6497	0.00824	0.2924:0.2838:0.1351:0.2888	.	31	Q8NGI9	OR5A2_HUMAN	V	31	ENSP00000303834:L31V	ENSP00000303834:L31V	L	-	1	2	OR5A2	58946912	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-10.814000	0.00005	-0.975000	0.03546	0.377000	0.23210	TTA		0.453	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		39	59	0	0	0	1	0	39	59				
NARS	4677	broad.mit.edu	37	18	55269715	55269715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55269715C>T	ENST00000256854.5	-	13	1842	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	NARS_ENST00000423481.2_Missense_Mutation_p.D214N	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	463					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	ATCAACACGTCGACCTTTAAA	0.398																																						ENST00000256854.5																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20						c.(1387-1389)Gac>Aac		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						87.0	77.0	81.0					18																	55269715		2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55269715C>T	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1387G>A	18.37:g.55269715C>T	ENSP00000256854:p.Asp463Asn					NARS_ENST00000423481.2_Missense_Mutation_p.D214N	p.D463N	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN			13	1842	-		Colorectal(73;0.227)	463					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.1387G>A	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295665	0.95574	.	.	ENSG00000134440	ENST00000256854;ENST00000423481	D;D	0.91011	-2.77;-2.77	6.16	6.16	0.99307	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.100251	0.64402	D	0.000003	D	0.97464	0.9170	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.97857	1.0278	10	0.87932	D	0	-9.4255	20.4549	0.99139	0.0:1.0:0.0:0.0	.	214;463	B4DN60;O43776	.;SYNC_HUMAN	N	463;214	ENSP00000256854:D463N;ENSP00000407919:D214N	ENSP00000256854:D463N	D	-	1	0	NARS	53420713	1.000000	0.71417	0.915000	0.36163	0.635000	0.38103	7.419000	0.80179	2.937000	0.99478	0.650000	0.86243	GAC		0.398	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		4	65	0	0	0	1	0	4	65				
PNISR	25957	broad.mit.edu	37	6	99850491	99850491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99850491G>A	ENST00000369239.5	-	11	1456	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.R418*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	418						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGCCGGATTCGATGCCGTAAT	0.418																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1252-1254)Cga>Tga		PNN-interacting serine/arginine-rich protein							186.0	184.0	184.0					6																	99850491		2203	4300	6503	SO:0001587	stop_gained	25957					nuclear speck		g.chr6:99850491G>A	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1252C>T	6.37:g.99850491G>A	ENSP00000358242:p.Arg418*					PNISR_ENST00000438806.1_Nonsense_Mutation_p.R418*	p.R418*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			11	1456	-			418					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Nonsense_Mutation	SNP	ENST00000369239.5	37	c.1252C>T	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	39	7.601286	0.98384	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4353	0.61079	0.0:0.0:0.7435:0.2565	.	.	.	.	X	418	.	ENSP00000358242:R418X	R	-	1	2	PNISR	99957212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.245000	0.58734	2.854000	0.98071	0.655000	0.94253	CGA		0.418	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		48	108	0	0	0	1	0	48	108				
PDE4DIP	9659	broad.mit.edu	37	1	144931569	144931569	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144931569G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.A47V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.A47V|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCGAACTCGGCTTTGCCATC	0.537			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(139-141)gCc>gTc		phosphodiesterase 4D interacting protein							86.0	88.0	87.0					1																	144931569		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144931569G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7748C>T	1.37:g.144931569G>A						PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.A47V|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron	p.A47V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	579	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.140C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147571	0.57151	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.12672	2.67;2.66	5.3	3.25	0.37280	.	.	.	.	.	T	0.13586	0.0329	L	0.40543	1.245	0.80722	D	1	D	0.57257	0.979	P	0.55455	0.776	T	0.02457	-1.1156	9	0.72032	D	0.01	.	15.0051	0.71504	0.0:0.2875:0.7125:0.0	.	47	Q5VU43-2	.	V	47	ENSP00000316434:A47V;ENSP00000433392:A47V	ENSP00000316434:A47V	A	-	2	0	PDE4DIP	143642926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.708000	0.37899	1.201000	0.43203	0.462000	0.41574	GCC		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		11	81	0	0	0	1	0	11	81				
ADD3	120	broad.mit.edu	37	10	111872641	111872641	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111872641A>G	ENST00000356080.4	+	3	669	c.302A>G	c.(301-303)aAt>aGt	p.N101S	ADD3_ENST00000277900.8_Missense_Mutation_p.N101S|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N101S	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	101						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATCATGGCCAATTCTTTCTCG	0.393																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(301-303)aAt>aGt		adducin 3 (gamma)							225.0	206.0	212.0					10																	111872641		2203	4300	6503	SO:0001583	missense	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111872641A>G	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.302A>G	10.37:g.111872641A>G	ENSP00000348381:p.Asn101Ser					ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.N101S|ADD3_ENST00000360162.3_Missense_Mutation_p.N101S	p.N101S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	3	667	+		Breast(234;0.052)|Lung NSC(174;0.223)	101					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	c.302A>G	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	A	4.698	0.129742	0.08981	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.04406	3.63;3.65;3.63	5.79	-3.24	0.05094	.	0.280748	0.49305	N	0.000148	T	0.01320	0.0043	N	0.01817	-0.705	0.25621	N	0.986393	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44221	-0.9342	10	0.02654	T	1	-7.7793	8.7348	0.34521	0.1857:0.2715:0.5428:0.0	.	101;101	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	S	101	ENSP00000353286:N101S;ENSP00000348381:N101S;ENSP00000277900:N101S	ENSP00000277900:N101S	N	+	2	0	ADD3	111862631	1.000000	0.71417	0.953000	0.39169	0.916000	0.54674	1.900000	0.39828	-0.457000	0.07033	-0.250000	0.11733	AAT		0.393	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		12	168	0	0	0	1	0	12	168				
MRC2	9902	broad.mit.edu	37	17	60765893	60765893	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60765893C>A	ENST00000303375.5	+	22	3495	c.3093C>A	c.(3091-3093)acC>acA	p.T1031T	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1031	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAATGTGACCTTTGACCTTT	0.552																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(3091-3093)acC>acA		mannose receptor, C type 2							176.0	175.0	175.0					17																	60765893		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60765893C>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3093C>A	17.37:g.60765893C>A						MRC2_ENST00000446119.2_5'UTR	p.T1031T	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			22	3495	+			1031			C-type lectin 6.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.3093C>A	CCDS11634.1																																																																																				0.552	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			6	150	1	0	0.00116845	1	0.00124821	6	150				
CDH11	1009	broad.mit.edu	37	16	65032517	65032517	+	Silent	SNP	C	C	T	rs138088413		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65032517C>T	ENST00000268603.4	-	4	1086	c.471G>A	c.(469-471)ccG>ccA	p.P157P	CDH11_ENST00000394156.3_Silent_p.P157P|CDH11_ENST00000566827.1_Silent_p.P31P	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	157	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P157P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCAGGAACTCCGGAGGGTTGT	0.582			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18175	0.0		0.0	False		,,,				2504	0.0					ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - coding silent(1)	p.P157P(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(469-471)ccG>ccA		cadherin 11, type 2, OB-cadherin (osteoblast)		C		2,4404	4.2+/-10.8	0,2,2201	137.0	119.0	125.0		471	-10.5	0.0	16	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH11	NM_001797.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		157/797	65032517	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032517C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.471G>A	16.37:g.65032517C>T		TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Silent_p.P157P|CDH11_ENST00000566827.1_Silent_p.P31P	p.P157P			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	924	-		Ovarian(137;0.0973)	157			Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.471G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	8.326	0.825501	0.16749	4.54E-4	1.16E-4	ENSG00000140937	ENST00000536902	.	.	.	5.24	-10.5	0.00291	.	.	.	.	.	T	0.48768	0.1518	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64778	-0.6327	5	0.87932	D	0	.	2.1051	0.03689	0.2354:0.0874:0.3263:0.3509	.	.	.	.	Q	151	.	ENSP00000442264:R151Q	R	-	2	0	CDH11	63590018	0.000000	0.05858	0.032000	0.17829	0.994000	0.84299	-3.425000	0.00475	-3.649000	0.00126	-0.140000	0.14226	CGG		0.582	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		36	63	0	0	0	1	0	36	63				
LRFN5	145581	broad.mit.edu	37	14	42360514	42360514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360514G>T	ENST00000298119.4	+	4	2636	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	483	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTATGTATGACTTGTGTGT	0.418										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1447-1449)Gac>Tac		leucine rich repeat and fibronectin type III domain containing 5							183.0	148.0	160.0					14																	42360514		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360514G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1447G>T	14.37:g.42360514G>T	ENSP00000298119:p.Asp483Tyr	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.D483Y	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2636	+			483			Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1447G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095771	0.76870	.	.	ENSG00000165379	ENST00000298119	T	0.68025	-0.3	5.88	5.88	0.94601	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	T	0.82093	0.4962	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.83273	-0.0042	10	0.87932	D	0	.	17.7319	0.88380	0.0:0.0:1.0:0.0	.	483	Q96NI6	LRFN5_HUMAN	Y	483	ENSP00000298119:D483Y	ENSP00000298119:D483Y	D	+	1	0	LRFN5	41430264	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.779000	0.95612	0.650000	0.86243	GAC		0.418	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		53	82	1	0	7.34454e-26	1	9.77834e-26	53	82				
WNK4	65266	broad.mit.edu	37	17	40947503	40947503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40947503C>A	ENST00000246914.5	+	15	3007	c.2986C>A	c.(2986-2988)Ctc>Atc	p.L996I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	996					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCTCGGCCCCTCCCAGGGGA	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2986-2988)Ctc>Atc		WNK lysine deficient protein kinase 4							97.0	99.0	99.0					17																	40947503		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947503C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2986C>A	17.37:g.40947503C>A	ENSP00000246914:p.Leu996Ile						p.L996I	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	15	3007	+		Breast(137;0.000143)	996					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2986C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	9.552	1.116220	0.20795	.	.	ENSG00000126562	ENST00000246914	T	0.70516	-0.49	5.74	4.65	0.58169	.	0.364006	0.20019	N	0.100952	T	0.58850	0.2151	L	0.29908	0.895	0.80722	D	1	P;B	0.35575	0.51;0.376	B;B	0.37091	0.241;0.073	T	0.57033	-0.7880	10	0.37606	T	0.19	-11.0371	10.3884	0.44154	0.0:0.8892:0.0:0.1108	.	996;996	Q96J92-3;Q96J92	.;WNK4_HUMAN	I	996	ENSP00000246914:L996I	ENSP00000246914:L996I	L	+	1	0	WNK4	38201029	0.024000	0.19004	0.998000	0.56505	0.063000	0.16089	0.316000	0.19469	1.330000	0.45394	0.591000	0.81541	CTC		0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			8	100	1	0	5.18039e-06	1	5.91835e-06	8	100				
GAREM	64762	broad.mit.edu	37	18	29848396	29848396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29848396C>T	ENST00000269209.6	-	6	2072	c.2069G>A	c.(2068-2070)aGc>aAc	p.S690N	GAREM_ENST00000399218.4_Missense_Mutation_p.S689N			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	690					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AGAGACGCTGCTACTGAATTC	0.537																																						ENST00000399218.4																			0											c.(2065-2067)aGc>aAc		GRB2 associated, regulator of MAPK1							76.0	77.0	77.0					18																	29848396		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29848396C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2069G>A	18.37:g.29848396C>T	ENSP00000269209:p.Ser690Asn					GAREM_ENST00000269209.6_Missense_Mutation_p.S690N	p.S689N	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	2121	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.2066G>A	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	3.224	-0.158887	0.06544	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15017	2.46;2.46	5.32	4.46	0.54185	.	0.713210	0.14354	N	0.324870	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34601	-0.9822	10	0.18276	T	0.48	-7.5087	9.9579	0.41678	0.0:0.8425:0.0:0.1575	.	690;689	Q9H706;Q9H706-3	FA59A_HUMAN;.	N	689;690	ENSP00000382165:S689N;ENSP00000269209:S690N	ENSP00000269209:S690N	S	-	2	0	FAM59A	28102394	0.000000	0.05858	0.011000	0.14972	0.336000	0.28762	0.348000	0.20031	1.242000	0.43836	-0.142000	0.14014	AGC		0.537	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		13	64	0	0	0	1	0	13	64				
AICDA	57379	broad.mit.edu	37	12	8757829	8757829	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8757829C>T	ENST00000229335.6	-	3	512	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	AICDA_ENST00000537228.1_Missense_Mutation_p.A137T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	137					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCATGATGGCTATTTGCACC	0.627																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(409-411)Gcc>Acc		activation-induced cytidine deaminase							20.0	22.0	21.0					12																	8757829		1927	4119	6046	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757829C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.409G>A	12.37:g.8757829C>T	ENSP00000229335:p.Ala137Thr					AICDA_ENST00000537228.1_Missense_Mutation_p.A137T	p.A137T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN			3	512	-	Lung SC(5;0.184)		137					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.409G>A	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	8.931	0.963370	0.18583	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.65364	-0.15;-0.15	5.56	3.73	0.42828	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	0.250416	0.42548	D	0.000685	T	0.40522	0.1120	N	0.10760	0.04	0.30705	N	0.749917	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.002;0.009;0.001	T	0.41787	-0.9489	10	0.41790	T	0.15	-10.6452	11.2824	0.49203	0.0:0.8484:0.0:0.1516	.	137;137;137	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	T	137	ENSP00000229335:A137T;ENSP00000445691:A137T	ENSP00000229335:A137T	A	-	1	0	AICDA	8649096	0.979000	0.34478	0.215000	0.23724	0.411000	0.31082	2.361000	0.44160	1.354000	0.45846	0.561000	0.74099	GCC		0.627	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		9	21	0	0	0	1	0	9	21				
ANAPC5	51433	broad.mit.edu	37	12	121783770	121783770	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121783770C>T	ENST00000261819.3	-	4	583	c.462G>A	c.(460-462)ctG>ctA	p.L154L	ANAPC5_ENST00000344395.4_Silent_p.L55L|ANAPC5_ENST00000541887.1_Silent_p.L154L|ANAPC5_ENST00000536366.1_Silent_p.L33L|ANAPC5_ENST00000441917.2_Silent_p.L55L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCAGTGTACAGTTTAAACA	0.428																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(460-462)ctG>ctA		anaphase promoting complex subunit 5							183.0	165.0	171.0					12																	121783770		2203	4300	6503	SO:0001819	synonymous_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121783770C>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.462G>A	12.37:g.121783770C>T						ANAPC5_ENST00000541887.1_Silent_p.L154L|ANAPC5_ENST00000536366.1_Silent_p.L33L|ANAPC5_ENST00000441917.2_Silent_p.L55L|ANAPC5_ENST00000344395.4_Silent_p.L55L	p.L154L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			4	583	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		154					E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	c.462G>A	CCDS9220.1																																																																																				0.428	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			18	144	0	0	0	1	0	18	144				
DMXL2	23312	broad.mit.edu	37	15	51828821	51828821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51828821C>T	ENST00000251076.5	-	12	2143	c.1856G>A	c.(1855-1857)gGt>gAt	p.G619D	DMXL2_ENST00000543779.2_Missense_Mutation_p.G619D|DMXL2_ENST00000449909.3_Missense_Mutation_p.G619D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	619						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTAAAGAACCATCTATGTG	0.418																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(1855-1857)gGt>gAt		Dmx-like 2							137.0	124.0	128.0					15																	51828821		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51828821C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1856G>A	15.37:g.51828821C>T	ENSP00000251076:p.Gly619Asp					DMXL2_ENST00000449909.3_Missense_Mutation_p.G619D|DMXL2_ENST00000543779.2_Missense_Mutation_p.G619D	p.G619D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	12	2143	-			619					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.1856G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119171	0.77323	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.55760	0.63;0.63;0.5	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.83483	2.645	0.34091	D	0.660683	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.97110	1.0;0.759;0.999	D	0.84516	0.0625	10	0.87932	D	0	.	18.9273	0.92550	0.0:1.0:0.0:0.0	.	619;619;619	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	D	619	ENSP00000251076:G619D;ENSP00000441858:G619D;ENSP00000400855:G619D	ENSP00000251076:G619D	G	-	2	0	DMXL2	49616113	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	5.734000	0.68580	2.462000	0.83206	0.561000	0.74099	GGT		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		6	80	0	0	0	1	0	6	80				
PTGFR	5737	broad.mit.edu	37	1	78958573	78958573	+	Missense_Mutation	SNP	G	G	A	rs374752240		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958573G>A	ENST00000370757.3	+	2	382	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGFR_ENST00000370758.1_Missense_Mutation_p.A49T|PTGFR_ENST00000370756.3_Missense_Mutation_p.A49T	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	49					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(145-147)Gcc>Acc		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						112.0	109.0	110.0					1																	78958573		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958573G>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.145G>A	1.37:g.78958573G>A	ENSP00000359793:p.Ala49Thr					PTGFR_ENST00000370758.1_Missense_Mutation_p.A49T|PTGFR_ENST00000370757.3_Missense_Mutation_p.A49T	p.A49T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	382	+			49					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.145G>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474678	0.63737	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.37584	1.19;1.19;1.19	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.321516	0.32952	N	0.005447	T	0.24044	0.0582	L	0.42245	1.32	0.44092	D	0.996858	P;D	0.62365	0.897;0.991	B;B	0.43082	0.251;0.407	T	0.01436	-1.1355	10	0.23891	T	0.37	-6.778	19.8864	0.96915	0.0:0.0:1.0:0.0	.	49;49	P43088;P43088-2	PF2R_HUMAN;.	T	49	ENSP00000359794:A49T;ENSP00000359793:A49T;ENSP00000359792:A49T	ENSP00000359792:A49T	A	+	1	0	PTGFR	78731161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.813000	0.69201	2.780000	0.95670	0.655000	0.94253	GCC		0.448	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		36	104	0	0	0	1	0	36	104				
DDHD2	23259	broad.mit.edu	37	8	38099827	38099827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099827G>T	ENST00000397166.2	+	7	1297	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	DDHD2_ENST00000520272.2_Nonsense_Mutation_p.E258*|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	258					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAAAGCCCAAGAAAATCAGCA	0.378																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(772-774)Gaa>Taa		DDHD domain containing 2							107.0	103.0	104.0					8																	38099827		2203	4300	6503	SO:0001587	stop_gained	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38099827G>T	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.772G>T	8.37:g.38099827G>T	ENSP00000380352:p.Glu258*					DDHD2_ENST00000520272.2_Nonsense_Mutation_p.E258*|DDHD2_ENST00000528888.1_3'UTR	p.E258*	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		7	1297	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	258					B3KWV2|B3KXB5|Q9H8X7	Nonsense_Mutation	SNP	ENST00000397166.2	37	c.772G>T	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.988788|3.988788	0.74589|0.74589	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212|ENST00000532106	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.055634|.	0.64402|.	D|.	0.000001|.	.|T	.|0.74168	.|0.3681	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73097	.|-0.4090	.|4	0.07990|.	T|.	0.79|.	-21.2322|-21.2322	18.0332|18.0332	0.89291|0.89291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	258;258;70|50	.|.	ENSP00000380352:E258X|.	E|K	+|+	1|3	0|2	DDHD2|DDHD2	38218984|38218984	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	7.546000|7.546000	0.82137|0.82137	2.561000|2.561000	0.86390|0.86390	0.467000|0.467000	0.42956|0.42956	GAA|AAG		0.378	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		5	44	1	0	3.59834e-05	1	4.01776e-05	5	44				
GRB7	2886	broad.mit.edu	37	17	37902408	37902408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37902408C>T	ENST00000309156.4	+	14	1662	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	GRB7_ENST00000394209.2_Missense_Mutation_p.L469F|GRB7_ENST00000309185.3_Silent_p.S439S|GRB7_ENST00000394204.1_Silent_p.S439S|GRB7_ENST00000445327.2_Missense_Mutation_p.L492F|GRB7_ENST00000394211.3_Missense_Mutation_p.L469F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	469	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGCTTTGTCCTCTCTTTGTG	0.587																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1405-1407)Ctc>Ttc		growth factor receptor-bound protein 7							155.0	143.0	147.0					17																	37902408		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902408C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1405C>T	17.37:g.37902408C>T	ENSP00000310771:p.Leu469Phe					GRB7_ENST00000309185.3_Silent_p.S439S|GRB7_ENST00000445327.2_Missense_Mutation_p.L492F|GRB7_ENST00000394211.3_Missense_Mutation_p.L469F|GRB7_ENST00000394204.1_Silent_p.S439S|GRB7_ENST00000394209.2_Missense_Mutation_p.L469F	p.L469F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		14	1662	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		469			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1405C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311206	0.81358	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.18	5.18	0.71444	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89729	0.3925	10	0.87932	D	0	-28.6981	8.0202	0.30404	0.0:0.8259:0.0:0.1741	.	469	Q14451	GRB7_HUMAN	F	469;469;469;492	ENSP00000310771:L469F;ENSP00000377761:L469F;ENSP00000377759:L469F;ENSP00000403459:L492F	ENSP00000310771:L469F	L	+	1	0	GRB7	35155934	0.977000	0.34250	1.000000	0.80357	0.990000	0.78478	2.482000	0.45224	2.426000	0.82243	0.561000	0.74099	CTC		0.587	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		62	89	0	0	0	1	0	62	89				
ATP10D	57205	broad.mit.edu	37	4	47548731	47548731	+	Missense_Mutation	SNP	C	C	T	rs201342683		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548731C>T	ENST00000273859.3	+	10	1756	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	ATP10D_ENST00000504445.1_Missense_Mutation_p.P481L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	496					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGCAAAACCGAGAGCCCCC	0.483																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1486-1488)cCg>cTg		ATPase, class V, type 10D							111.0	115.0	114.0					4																	47548731		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47548731C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1487C>T	4.37:g.47548731C>T	ENSP00000273859:p.Pro496Leu					ATP10D_ENST00000504445.1_Missense_Mutation_p.P481L	p.P496L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			10	1756	+			496					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1487C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	6.328	0.428539	0.11987	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.62639	0.01;4.12	4.78	-2.4	0.06583	HAD-like domain (1);	1.182100	0.06043	N	0.655161	T	0.37156	0.0993	N	0.16368	0.405	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.001	T	0.13176	-1.0519	10	0.10377	T	0.69	5.4678	2.8856	0.05660	0.1072:0.3455:0.1156:0.4317	.	496;481	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	496;481	ENSP00000273859:P496L;ENSP00000420909:P481L	ENSP00000273859:P496L	P	+	2	0	ATP10D	47243488	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-2.172000	0.01266	-0.887000	0.03961	0.491000	0.48974	CCG		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		37	64	0	0	0	1	0	37	64				
TACC2	10579	broad.mit.edu	37	10	123970727	123970727	+	Missense_Mutation	SNP	G	G	A	rs187285591		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123970727G>A	ENST00000369005.1	+	9	7127	c.6787G>A	c.(6787-6789)Gta>Ata	p.V2263I	TACC2_ENST00000513429.1_Missense_Mutation_p.V409I|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.V341I|TACC2_ENST00000368999.1_Missense_Mutation_p.V341I|TACC2_ENST00000453444.2_Missense_Mutation_p.V2267I|TACC2_ENST00000260733.3_Missense_Mutation_p.V341I|TACC2_ENST00000334433.3_Missense_Mutation_p.V2263I|TACC2_ENST00000515603.1_Missense_Mutation_p.V2218I|TACC2_ENST00000360561.3_Missense_Mutation_p.V341I|TACC2_ENST00000515273.1_Missense_Mutation_p.V2267I|TACC2_ENST00000358010.1_Missense_Mutation_p.V409I|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2263					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCTCTCCGTAAGGCTGGA	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16089	0.0		0.0	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6787-6789)Gta>Ata		transforming, acidic coiled-coil containing protein 2		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	40.0	47.0	44.0		1021,1021,1225,6787	5.0	1.0	10		44	0,8600		0,0,4300	yes	missense,missense,missense,missense	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	29,29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	341/1027,341/997,409/1095,2263/2949	123970727	2,13004	2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970727G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6787G>A	10.37:g.123970727G>A	ENSP00000358001:p.Val2263Ile					TACC2_ENST00000260733.3_Missense_Mutation_p.V341I|TACC2_ENST00000369004.3_Missense_Mutation_p.V341I|TACC2_ENST00000358010.1_Missense_Mutation_p.V409I|TACC2_ENST00000513429.1_Missense_Mutation_p.V409I|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.V2263I|TACC2_ENST00000515273.1_Missense_Mutation_p.V2267I|TACC2_ENST00000360561.3_Missense_Mutation_p.V341I|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.V2267I|TACC2_ENST00000368999.1_Missense_Mutation_p.V341I|TACC2_ENST00000515603.1_Missense_Mutation_p.V2218I	p.V2263I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7127	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2263					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6787G>A	CCDS7626.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	22.3	4.268641	0.80469	4.54E-4	0.0	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T	0.20881	3.53;3.15;3.63;3.61;3.53;3.15;3.63;3.01;2.99;2.98;3.0;2.61;2.04	5.0	5.0	0.66597	.	0.000000	0.32473	N	0.006048	T	0.46580	0.1400	M	0.69248	2.105	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;P;P;P;D	0.80764	0.95;0.99;0.987;0.994;0.99;0.803;0.803;0.803;0.958	T	0.38887	-0.9640	10	0.49607	T	0.09	-15.9515	18.673	0.91518	0.0:0.0:1.0:0.0	.	358;2267;341;2218;2267;341;341;409;2263	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	I	2263;409;2267;2218;2263;409;2267;2253;341;341;341;341;358;2	ENSP00000358001:V2263I;ENSP00000425062:V409I;ENSP00000424467:V2267I;ENSP00000427618:V2218I;ENSP00000334280:V2263I;ENSP00000350701:V409I;ENSP00000395048:V2267I;ENSP00000353763:V341I;ENSP00000357995:V341I;ENSP00000422815:V341I;ENSP00000260733:V341I;ENSP00000420967:V358I;ENSP00000422725:V2I	ENSP00000260733:V341I	V	+	1	0	TACC2	123960717	1.000000	0.71417	0.991000	0.47740	0.635000	0.38103	4.629000	0.61290	2.491000	0.84063	0.655000	0.94253	GTA		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			15	18	0	0	0	1	0	15	18				
CAMTA1	23261	broad.mit.edu	37	1	7725163	7725163	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7725163C>A	ENST00000303635.7	+	9	2763	c.2556C>A	c.(2554-2556)gtC>gtA	p.V852V	CAMTA1_ENST00000439411.2_Silent_p.V852V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	852					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGAGGTGGTCTCGGCCGCCT	0.667			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2554-2556)gtC>gtA		calmodulin binding transcription activator 1							39.0	37.0	38.0					1																	7725163		2198	4279	6477	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725163C>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2556C>A	1.37:g.7725163C>A						CAMTA1_ENST00000439411.2_Silent_p.V852V	p.V852V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2763	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	852					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2556C>A	CCDS30576.1																																																																																				0.667	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		19	33	1	0	1.96292e-10	1	2.41709e-10	19	33				
ZNF318	24149	broad.mit.edu	37	6	43323412	43323412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43323412G>A	ENST00000361428.2	-	4	1737	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P554S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	554					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCCAAGGGGCTTTGGTACG	0.478																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1660-1662)Ccc>Tcc		zinc finger protein 318							137.0	145.0	143.0					6																	43323412		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323412G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1660C>T	6.37:g.43323412G>A	ENSP00000354964:p.Pro554Ser					ZNF318_ENST00000318149.3_Missense_Mutation_p.P554S	p.P554S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1737	-			554					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1660C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	1.769	-0.484774	0.04352	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.02525	4.26;4.26	6.17	1.16	0.20824	.	0.421518	0.25509	N	0.030192	T	0.00356	0.0011	N	0.02916	-0.46	0.24539	N	0.994075	B	0.11235	0.004	B	0.10450	0.005	T	0.43669	-0.9377	10	0.22706	T	0.39	-1.0E-4	2.5506	0.04748	0.2933:0.1206:0.4631:0.123	.	554	Q5VUA4	ZN318_HUMAN	S	554	ENSP00000323032:P554S;ENSP00000354964:P554S	ENSP00000323032:P554S	P	-	1	0	ZNF318	43431390	1.000000	0.71417	0.956000	0.39512	0.701000	0.40568	0.667000	0.25112	0.279000	0.22186	-0.140000	0.14226	CCC		0.478	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		105	144	0	0	0	1	0	105	144				
CHRNA7	1139	broad.mit.edu	37	15	32460237	32460237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32460237C>T	ENST00000306901.3	+	10	1184	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CHRNA7_ENST00000454250.3_Missense_Mutation_p.R392C|CHRNA7_ENST00000455693.2_Missense_Mutation_p.R182C	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	363					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CAAGCAGCGGCGCTGCAGCCT	0.687																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12						c.(1087-1089)Cgc>Tgc		cholinergic receptor, nicotinic, alpha 7 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)																																			SO:0001583	missense	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460237C>T	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1087C>T	15.37:g.32460237C>T	ENSP00000303727:p.Arg363Cys					CHRNA7_ENST00000455693.2_Missense_Mutation_p.R182C|CHRNA7_ENST00000454250.3_Missense_Mutation_p.R392C	p.R363C	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1184	+		all_lung(180;6.35e-11)	363					A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	c.1087C>T	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.427479	0.43122	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	D;D;D	0.84589	-1.87;-1.87;-1.87	3.84	3.84	0.44239	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.373152	0.32015	N	0.006704	T	0.82176	0.4980	M	0.70787	2.145	0.58432	D	0.999999	B;B	0.20780	0.048;0.026	B;B	0.18263	0.021;0.021	T	0.80872	-0.1188	10	0.56958	D	0.05	.	9.0478	0.36358	0.2191:0.7809:0.0:0.0	.	392;363	B4DFS0;P36544	.;ACHA7_HUMAN	C	273;392;363;182	ENSP00000407546:R392C;ENSP00000303727:R363C;ENSP00000405989:R182C	ENSP00000303727:R363C	R	+	1	0	CHRNA7	30247529	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.265000	0.58865	2.434000	0.82447	0.650000	0.86243	CGC		0.687	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			8	37	0	0	0	1	0	8	37				
PRR12	57479	broad.mit.edu	37	19	50099342	50099342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50099342G>T	ENST00000418929.2	+	4	1762	c.1750G>T	c.(1750-1752)Gga>Tga	p.G584*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.G584*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGCTCTCCAGGAGCCCCTGG	0.667																																						ENST00000418929.2																			1	Substitution - Nonsense(1)	p.G584*(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1750-1752)Gga>Tga		proline rich 12							40.0	47.0	45.0					19																	50099342		2016	4159	6175	SO:0001587	stop_gained	57479						DNA binding	g.chr19:50099342G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1750G>T	19.37:g.50099342G>T	ENSP00000394510:p.Gly584*						p.G584*	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1762	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	348			Pro-rich.		E9PB06|Q8N4J6	Nonsense_Mutation	SNP	ENST00000418929.2	37	c.1750G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	36	5.801442	0.96960	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.5011	0.75700	0.0:0.0:1.0:0.0	.	.	.	.	X	584	.	ENSP00000394510:G584X	G	+	1	0	PRR12	54791154	1.000000	0.71417	0.999000	0.59377	0.559000	0.35586	4.545000	0.60698	2.274000	0.75844	0.455000	0.32223	GGA		0.667	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	83	1	0	1.23904e-05	1	1.39987e-05	4	83				
ITPR2	3709	broad.mit.edu	37	12	26628240	26628240	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26628240G>T	ENST00000381340.3	-	45	6747	c.6331C>A	c.(6331-6333)Ctg>Atg	p.L2111M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2111					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGATGGGCCAGAATATAGATA	0.393																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6331-6333)Ctg>Atg		inositol 1,4,5-trisphosphate receptor, type 2							107.0	111.0	110.0					12																	26628240		1948	4131	6079	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26628240G>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6331C>A	12.37:g.26628240G>T	ENSP00000370744:p.Leu2111Met						p.L2111M	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			45	6747	-	Colorectal(261;0.0847)		2111					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6331C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598008	0.66332	.	.	ENSG00000123104	ENST00000381340	D	0.95482	-3.72	5.07	4.16	0.48862	.	0.000000	0.64402	D	0.000001	D	0.97511	0.9185	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96990	0.9721	10	0.87932	D	0	.	6.0717	0.19893	0.2825:0.0:0.7175:0.0	.	2111	Q14571	ITPR2_HUMAN	M	2111	ENSP00000370744:L2111M	ENSP00000370744:L2111M	L	-	1	2	ITPR2	26519507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.908000	0.48750	2.621000	0.88768	0.655000	0.94253	CTG		0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		17	34	1	0	5.35267e-07	1	6.25286e-07	17	34				
NCOR2	9612	broad.mit.edu	37	12	124870300	124870300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124870300C>T	ENST00000405201.1	-	17	2010	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	NCOR2_ENST00000404621.1_Silent_p.K669K|NCOR2_ENST00000429285.2_Silent_p.K669K|NCOR2_ENST00000356219.3_Silent_p.K670K|NCOR2_ENST00000404121.2_Silent_p.K240K|NCOR2_ENST00000397355.1_Silent_p.K670K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	670					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCATCTTCAGCTTGTGCTGCT	0.582																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2008-2010)aaG>aaA		nuclear receptor corepressor 2							130.0	142.0	138.0					12																	124870300		2168	4257	6425	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124870300C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2010G>A	12.37:g.124870300C>T						NCOR2_ENST00000404621.1_Silent_p.K669K|NCOR2_ENST00000397355.1_Silent_p.K670K|NCOR2_ENST00000429285.2_Silent_p.K669K|NCOR2_ENST00000405201.1_Silent_p.K670K|NCOR2_ENST00000404121.2_Silent_p.K240K	p.K670K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	18	2165	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		670					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.2010G>A	CCDS41858.2																																																																																				0.582	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		56	79	0	0	0	1	0	56	79				
C5orf45	51149	broad.mit.edu	37	5	179264753	179264753	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179264753C>A	ENST00000292586.6	-	7	760	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.A90S|C5orf45_ENST00000521333.1_Missense_Mutation_p.S110I|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.A169S	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	224										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAGGATGTGGCTGTAACCTGC	0.587																																						ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(670-672)Gcc>Tcc		chromosome 5 open reading frame 45							78.0	82.0	81.0					5																	179264753		2203	4300	6503	SO:0001583	missense	51149							g.chr5:179264753C>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.670G>T	5.37:g.179264753C>A	ENSP00000292586:p.Ala224Ser					C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000521333.1_Missense_Mutation_p.S110I|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.A90S|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Missense_Mutation_p.A169S|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR	p.A224S	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	760	-			224					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	c.670G>T	CCDS34319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.962890|2.962890	0.53507|0.53507	.|.	.|.	ENSG00000161010|ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586|ENST00000521333	T;T;T|T	0.08008|0.52057	3.14;3.14;3.14|0.68	4.67|4.67	-0.959|-0.959	0.10343|0.10343	.|.	1.110580|.	0.06879|.	N|.	0.802153|.	T|T	0.42517|0.42517	0.1206|0.1206	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	0.999993|0.999993	P;P|.	0.41102|.	0.738;0.551|.	B;B|.	0.38562|.	0.276;0.189|.	T|T	0.45366|0.45366	-0.9266|-0.9266	10|7	0.62326|0.62326	D|D	0.03|0.03	-0.4189|-0.4189	1.2426|1.2426	0.01966|0.01966	0.2859:0.3918:0.1396:0.1826|0.2859:0.3918:0.1396:0.1826	.|.	169;224|.	E9PAK6;Q6NTE8|.	.;CE045_HUMAN|.	S|I	169;90;224|110	ENSP00000366130:A169S;ENSP00000429107:A90S;ENSP00000292586:A224S|ENSP00000429651:S110I	ENSP00000292586:A224S|ENSP00000429651:S110I	A|S	-|-	1|2	0|0	C5orf45|C5orf45	179197359|179197359	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.365000|-0.365000	0.07573|0.07573	-0.313000|-0.313000	0.08728|0.08728	-0.500000|-0.500000	0.04577|0.04577	GCC|AGC		0.587	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		7	45	1	0	8.12818e-05	1	8.99451e-05	7	45				
ATP6V0D2	245972	broad.mit.edu	37	8	87111268	87111268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87111268C>T	ENST00000285393.3	+	1	203	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	21					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGGCCTGGTTCGAGGATGCAA	0.532																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(61-63)Cga>Tga		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							117.0	88.0	98.0					8																	87111268		2203	4300	6503	SO:0001587	stop_gained	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87111268C>T	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.61C>T	8.37:g.87111268C>T	ENSP00000285393:p.Arg21*					CTD-3118D11.2_ENST00000522679.1_RNA	p.R21*	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			1	203	+			21						Nonsense_Mutation	SNP	ENST00000285393.3	37	c.61C>T	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	36	5.901834	0.97087	.	.	ENSG00000147614	ENST00000521564;ENST00000523635;ENST00000285393	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3389	17.0109	0.86406	0.0:1.0:0.0:0.0	.	.	.	.	X	21	.	ENSP00000285393:R21X	R	+	1	2	ATP6V0D2	87180384	0.942000	0.31987	0.980000	0.43619	0.964000	0.63967	2.015000	0.40961	2.612000	0.88384	0.591000	0.81541	CGA		0.532	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		16	29	0	0	0	1	0	16	29				
USP22	23326	broad.mit.edu	37	17	20922431	20922431	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20922431C>T	ENST00000261497.4	-	4	689	c.486G>A	c.(484-486)ccG>ccA	p.P162P	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.P150P	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	162					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TTCTCCTTTTCGGGTTGTGCT	0.473																																						ENST00000261497.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(484-486)ccG>ccA		ubiquitin specific peptidase 22							262.0	259.0	260.0					17																	20922431		1947	4144	6091	SO:0001819	synonymous_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20922431C>T	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.486G>A	17.37:g.20922431C>T						USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.P150P	p.P162P	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			4	689	-			162					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	c.486G>A	CCDS42285.1																																																																																				0.473	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			42	67	0	0	0	1	0	42	67				
CDH1	999	broad.mit.edu	37	16	68847374	68847374	+	Silent	SNP	C	C	T	rs187862045		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847374C>T	ENST00000261769.5	+	9	1487	c.1296C>T	c.(1294-1296)aaC>aaT	p.N432N	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Intron|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	432	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGTGAACAACGATGGCATTT	0.473			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				C|||	1	0.000199681	0.0	0.0	5008	,	,		22954	0.0		0.001	False		,,,				2504	0.0					ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		3	Deletion - In frame(2)|Unknown(1)	p.Y380_K440del(2)|p.?(1)	breast(2)|stomach(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1294-1296)aaC>aaT		cadherin 1, type 1, E-cadherin (epithelial)							253.0	228.0	236.0					16																	68847374		2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68847374C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1296C>T	16.37:g.68847374C>T						CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	p.N432N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	9	1487	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	432			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1296C>T	CCDS10869.1																																																																																				0.473	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		9	251	0	0	0	1	0	9	251				
PTPRM	5797	broad.mit.edu	37	18	7888151	7888151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7888151G>A	ENST00000332175.8	+	3	1281	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A20T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A82T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A82T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	82	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGGCAGAGAGCCCACCTGCT	0.458																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(244-246)Gcc>Acc		protein tyrosine phosphatase, receptor type, M							169.0	175.0	173.0					18																	7888151		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888151G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.244G>A	18.37:g.7888151G>A	ENSP00000331418:p.Ala82Thr					PTPRM_ENST00000580170.1_Missense_Mutation_p.A82T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A82T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A20T	p.A82T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			3	1281	+		Colorectal(10;0.234)	82			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.244G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146963	0.57151	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.03580	3.88;3.88;3.88	5.73	1.41	0.22369	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.236523	0.42821	N	0.000652	T	0.06962	0.0177	M	0.87617	2.895	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.11329	0.006;0.006	T	0.05767	-1.0865	10	0.66056	D	0.02	.	5.7018	0.17887	0.3389:0.0:0.5316:0.1295	.	82;82	A7MBN1;P28827	.;PTPRM_HUMAN	T	82;82;20	ENSP00000331418:A82T;ENSP00000382933:A82T;ENSP00000382927:A20T	ENSP00000331418:A82T	A	+	1	0	PTPRM	7878151	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.073000	0.57570	0.359000	0.24239	0.655000	0.94253	GCC		0.458	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			59	128	0	0	0	1	0	59	128				
SETBP1	26040	broad.mit.edu	37	18	42643159	42643159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42643159C>T	ENST00000282030.5	+	6	4583	c.4287C>T	c.(4285-4287)caC>caT	p.H1429H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1429						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCTGGACCACGTGAACAAGA	0.557									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(4285-4287)caC>caT		SET binding protein 1							51.0	47.0	48.0					18																	42643159		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643159C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4287C>T	18.37:g.42643159C>T							p.H1429H	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4583	+			1429					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.4287C>T	CCDS11923.2																																																																																				0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		10	12	0	0	0	1	0	10	12				
MYO5B	4645	broad.mit.edu	37	18	47431075	47431075	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47431075G>T	ENST00000285039.7	-	20	2837	c.2538C>A	c.(2536-2538)acC>acA	p.T846T	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	846	Arg-rich.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACATGGCCCGGGTGAAGGCCT	0.582																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2536-2538)acC>acA		myosin VB							50.0	56.0	54.0					18																	47431075		1955	4139	6094	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47431075G>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2538C>A	18.37:g.47431075G>T							p.T846T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	20	2837	-			846			Arg-rich.|IQ 3.|IQ 4.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.2538C>A	CCDS42436.1																																																																																				0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			6	41	1	0	0.00116845	1	0.00124821	6	41				
OR5H15	403274	broad.mit.edu	37	3	97888283	97888283	+	Missense_Mutation	SNP	C	C	A	rs375363513		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888283C>A	ENST00000356526.2	+	1	740	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATCTCTTCTCTGTCTGTTTA	0.428																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(739-741)tCt>tAt		olfactory receptor, family 5, subfamily H, member 15							102.0	104.0	103.0					3																	97888283		2203	4300	6503	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888283C>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.740C>A	3.37:g.97888283C>A	ENSP00000373195:p.Ser247Tyr						p.S247Y	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	740	+			247						Missense_Mutation	SNP	ENST00000356526.2	37	c.740C>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	11.27	1.589382	0.28357	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00123	8.7	2.48	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.149595	0.31519	N	0.007519	T	0.00328	0.0010	M	0.74881	2.28	0.09310	N	1	D	0.63046	0.992	D	0.67900	0.954	T	0.46762	-0.9168	10	0.87932	D	0	.	4.1321	0.10154	0.0:0.6097:0.24:0.1503	.	247	A6NDH6	O5H15_HUMAN	Y	247	ENSP00000373195:S247Y	ENSP00000373195:S247Y	S	+	2	0	OR5H15	99370973	0.000000	0.05858	0.111000	0.21465	0.016000	0.09150	-0.072000	0.11486	0.338000	0.23692	0.184000	0.17185	TCT		0.428	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			5	52	1	0	0.014758	1	0.0152625	5	52				
RECK	8434	broad.mit.edu	37	9	36121545	36121545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36121545C>T	ENST00000377966.3	+	20	3120	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	852					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAATAAAAAGCCAATAACAGT	0.403																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2554-2556)Cca>Tca		reversion-inducing-cysteine-rich protein with kazal motifs							95.0	91.0	92.0					9																	36121545		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36121545C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2554C>T	9.37:g.36121545C>T	ENSP00000367202:p.Pro852Ser						p.P852S	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		20	3120	+			852					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2554C>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114893	0.77210	.	.	ENSG00000122707	ENST00000377966	T	0.42900	0.96	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	L	0.31065	0.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.33214	-0.9877	10	0.15952	T	0.53	-11.4321	17.2407	0.87013	0.0:1.0:0.0:0.0	.	852;852	A8K9D8;O95980	.;RECK_HUMAN	S	852	ENSP00000367202:P852S	ENSP00000367202:P852S	P	+	1	0	RECK	36111545	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.598000	0.82745	2.658000	0.90341	0.655000	0.94253	CCA		0.403	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			24	54	0	0	0	1	0	24	54				
FHDC1	85462	broad.mit.edu	37	4	153886116	153886116	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153886116G>A	ENST00000511601.1	+	9	1277	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	FHDC1_ENST00000260008.3_Silent_p.Q363Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	363	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATCATGTTCAGAAGACTGCTA	0.303																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1087-1089)caG>caA		FH2 domain containing 1							71.0	76.0	75.0					4																	153886116		2203	4298	6501	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153886116G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1089G>A	4.37:g.153886116G>A						FHDC1_ENST00000260008.3_Silent_p.Q363Q	p.Q363Q			Q9C0D6	FHDC1_HUMAN			9	1277	+	all_hematologic(180;0.093)		363			FH2.			Silent	SNP	ENST00000511601.1	37	c.1089G>A	CCDS34081.1																																																																																				0.303	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		37	64	0	0	0	1	0	37	64				
CCDC183	84960	broad.mit.edu	37	9	139701208	139701208	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139701208G>T	ENST00000338005.6	+	12	1313		c.e12-1		RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000357466.2_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGGCCTACAGAGAGAAGTGG	0.617																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e12-1		KIAA1984							36.0	41.0	39.0					9																	139701208		2106	4222	6328	SO:0001630	splice_region_variant	84960							g.chr9:139701208G>T																												ENST00000338005.6:c.1279-1G>T	9.37:g.139701208G>T						KIAA1984-AS1_ENST00000414656.1_RNA		NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	12	1313	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)						B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Splice_Site	SNP	ENST00000338005.6	37		CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	6.168	0.399260	0.11696	.	.	ENSG00000213213	ENST00000338005	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3304	0.55035	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1984	138821029	0.695000	0.27747	0.724000	0.30704	0.018000	0.09664	1.943000	0.40253	2.339000	0.79563	0.561000	0.74099	.		0.617	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		Intron	4	30	1	0	0.00024832	1	0.0002712	4	30				
WBP11	51729	broad.mit.edu	37	12	14952649	14952649	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14952649C>T	ENST00000261167.2	-	4	343	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	37	Required for nuclear import. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCATCATGCGCTGTTTTTT	0.368																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(109-111)cGc>cAc		WW domain binding protein 11							103.0	85.0	91.0					12																	14952649		2201	4298	6499	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14952649C>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.110G>A	12.37:g.14952649C>T	ENSP00000261167:p.Arg37His					WBP11_ENST00000537574.1_Missense_Mutation_p.R37H	p.R37H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			4	343	-			37			Required for nuclear import (By similarity).		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.110G>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985656	0.74589	.	.	ENSG00000084463	ENST00000261167;ENST00000537574;ENST00000535328	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78807	-0.2059	9	0.66056	D	0.02	-1.017	16.3982	0.83630	0.0:1.0:0.0:0.0	.	37	Q9Y2W2	WBP11_HUMAN	H	37	.	ENSP00000261167:R37H	R	-	2	0	WBP11	14843916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.152000	0.77419	2.738000	0.93877	0.609000	0.83330	CGC		0.368	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		12	16	0	0	0	1	0	12	16				
C14orf93	60686	broad.mit.edu	37	14	23468166	23468166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23468166C>T	ENST00000299088.6	-	2	496	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	C14orf93_ENST00000397382.4_Missense_Mutation_p.A23T|C14orf93_ENST00000397377.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000341470.4_Missense_Mutation_p.A23T|C14orf93_ENST00000397379.3_Missense_Mutation_p.A23T|C14orf93_ENST00000406429.2_Missense_Mutation_p.A23T|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	23	Poly-Cys.					extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTCTTACAGGCGCAGCAGCAG	0.587																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(67-69)Gcc>Acc		chromosome 14 open reading frame 93							59.0	60.0	59.0					14																	23468166		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23468166C>T	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.67G>A	14.37:g.23468166C>T	ENSP00000299088:p.Ala23Thr					C14orf93_ENST00000397379.3_Missense_Mutation_p.A23T|C14orf93_ENST00000397382.4_Missense_Mutation_p.A23T|C14orf93_ENST00000406429.2_Missense_Mutation_p.A23T|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000341470.4_Missense_Mutation_p.A23T	p.A23T	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	496	-	all_cancers(95;3.3e-05)		23			Poly-Cys.		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.67G>A	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672396	0.47781	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098;ENST00000555998	T;T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.93	5.05	0.67936	.	0.170089	0.40469	N	0.001088	T	0.28699	0.0711	L	0.27053	0.805	0.28128	N	0.930312	B;B	0.13145	0.007;0.007	B;B	0.13407	0.009;0.009	T	0.14448	-1.0472	10	0.32370	T	0.25	-41.9249	9.3752	0.38278	0.0:0.8394:0.0:0.1606	.	23;23	Q9H972;Q9H972-2	CN093_HUMAN;.	T	23	ENSP00000299088:A23T;ENSP00000341353:A23T;ENSP00000380535:A23T;ENSP00000380538:A23T;ENSP00000384768:A23T;ENSP00000380536:A23T;ENSP00000450771:A23T;ENSP00000452036:A23T;ENSP00000451111:A23T;ENSP00000451456:A23T;ENSP00000450866:A23T;ENSP00000451879:A23T	ENSP00000299088:A23T	A	-	1	0	C14orf93	22538006	0.691000	0.27709	0.996000	0.52242	0.780000	0.44128	0.129000	0.15830	1.535000	0.49220	-0.137000	0.14449	GCC		0.587	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		30	53	0	0	0	1	0	30	53				
EDIL3	10085	broad.mit.edu	37	5	83259100	83259100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83259100C>T	ENST00000296591.5	-	10	1635	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	EDIL3_ENST00000380138.3_Missense_Mutation_p.G396D	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	406	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTGTAGGAGCCAACAAACTG	0.378																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(1216-1218)gGc>gAc		EGF-like repeats and discoidin I-like domains 3							165.0	157.0	160.0					5																	83259100		2203	4299	6502	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83259100C>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1217G>A	5.37:g.83259100C>T	ENSP00000296591:p.Gly406Asp					EDIL3_ENST00000380138.3_Missense_Mutation_p.G396D	p.G406D	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	10	1635	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	406			F5/8 type C 2.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.1217G>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201356	0.58234	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98249	-4.82;-4.82	5.72	5.72	0.89469	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	L	0.38838	1.175	0.80722	D	1	D;B	0.57257	0.979;0.182	P;B	0.54270	0.747;0.102	D	0.96149	0.9106	10	0.17369	T	0.5	-19.3067	19.8937	0.96942	0.0:1.0:0.0:0.0	.	396;406	O43854-2;O43854	.;EDIL3_HUMAN	D	406;396	ENSP00000296591:G406D;ENSP00000369483:G396D	ENSP00000296591:G406D	G	-	2	0	EDIL3	83294856	1.000000	0.71417	0.980000	0.43619	0.983000	0.72400	5.594000	0.67557	2.716000	0.92895	0.650000	0.86243	GGC		0.378	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		6	102	0	0	0	1	0	6	102				
C6orf89	221477	broad.mit.edu	37	6	36870003	36870003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36870003G>A	ENST00000480824.2	+	4	490	c.196G>A	c.(196-198)Gca>Aca	p.A66T	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.A73T|C6orf89_ENST00000510325.2_Intron|C6orf89_ENST00000373685.1_Missense_Mutation_p.A66T			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	66					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTAGGTTCTCGCAACCTTGGG	0.428																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(196-198)Gca>Aca		chromosome 6 open reading frame 89							143.0	131.0	135.0					6																	36870003		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36870003G>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.196G>A	6.37:g.36870003G>A	ENSP00000475947:p.Ala66Thr					C6orf89_ENST00000373685.1_Missense_Mutation_p.A66T|C6orf89_ENST00000355190.3_Missense_Mutation_p.A73T|C6orf89_ENST00000510325.2_Intron|C6orf89_ENST00000359359.2_5'UTR	p.A66T			Q6UWU4	CF089_HUMAN			4	490	+			66					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.196G>A		.	.	.	.	.	.	.	.	.	.	G	9.001	0.980082	0.18812	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	T;T	0.29397	1.57;1.57	5.72	-4.19	0.03835	.	1.234540	0.05396	N	0.539814	T	0.06371	0.0164	N	0.22421	0.69	0.22001	N	0.999421	B;B	0.30526	0.283;0.283	B;B	0.19148	0.024;0.024	T	0.36432	-0.9748	10	0.66056	D	0.02	-2.7151	7.7638	0.28968	0.4443:0.304:0.2517:0.0	.	66;73	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	T	73;66;73;72	ENSP00000347322:A73T;ENSP00000362789:A66T	ENSP00000347322:A73T	A	+	1	0	C6orf89	36977981	0.040000	0.19996	0.003000	0.11579	0.159000	0.22180	-0.698000	0.05092	-0.706000	0.05028	-0.218000	0.12543	GCA		0.428	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		19	42	0	0	0	1	0	19	42				
DTL	51514	broad.mit.edu	37	1	212254006	212254006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212254006G>T	ENST00000366991.4	+	13	1489	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I	MIR3122_ENST00000577243.1_RNA|DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.R350I	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	392					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CGCTTGAATAGAGGCTTAGAG	0.413																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1174-1176)aGa>aTa		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							155.0	169.0	164.0					1																	212254006		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212254006G>T	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1175G>T	1.37:g.212254006G>T	ENSP00000355958:p.Arg392Ile					DTL_ENST00000542077.1_Missense_Mutation_p.R350I|DTL_ENST00000475419.1_3'UTR	p.R392I	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	13	1489	+			392					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.1175G>T	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096932	0.94197	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.19105	2.17;2.17	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054806	0.64402	D	0.000002	T	0.35682	0.0940	L	0.58101	1.795	0.80722	D	1	P;D;P	0.58268	0.954;0.982;0.923	P;P;P	0.53035	0.642;0.716;0.461	T	0.02031	-1.1226	10	0.39692	T	0.17	-20.6974	18.0203	0.89253	0.0:0.0:1.0:0.0	.	350;392;350	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	I	392;350;71	ENSP00000355958:R392I;ENSP00000443870:R350I	ENSP00000355958:R392I	R	+	2	0	DTL	210320629	1.000000	0.71417	0.992000	0.48379	0.867000	0.49689	4.800000	0.62524	2.629000	0.89072	0.651000	0.88453	AGA		0.413	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		42	203	1	0	1.62957e-23	1	2.15828e-23	42	203				
URGCP	55665	broad.mit.edu	37	7	43917189	43917189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917189C>A	ENST00000453200.1	-	6	2366	c.1873G>T	c.(1873-1875)Gag>Tag	p.E625*	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Nonsense_Mutation_p.E616*|URGCP_ENST00000223341.7_Nonsense_Mutation_p.E582*|URGCP_ENST00000336086.6_Nonsense_Mutation_p.E582*|URGCP_ENST00000443736.1_Nonsense_Mutation_p.E582*|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Nonsense_Mutation_p.E582*			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	625					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTCAGCCTCATAAAACTGT	0.637																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1744-1746)Gag>Tag		upregulator of cell proliferation							49.0	56.0	54.0					7																	43917189		2077	4205	6282	SO:0001587	stop_gained	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917189C>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1873G>T	7.37:g.43917189C>A	ENSP00000396918:p.Glu625*					URGCP_ENST00000447717.3_Nonsense_Mutation_p.E582*|URGCP_ENST00000443736.1_Nonsense_Mutation_p.E582*|URGCP_ENST00000402306.3_Nonsense_Mutation_p.E616*|URGCP_ENST00000223341.7_Nonsense_Mutation_p.E582*|URGCP_ENST00000453200.1_Nonsense_Mutation_p.E625*|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron	p.E582*			Q8TCY9	URGCP_HUMAN			4	3980	-			625					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Nonsense_Mutation	SNP	ENST00000453200.1	37	c.1744G>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	43	9.909935	0.99293	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	.	.	.	5.79	5.79	0.91817	.	0.100757	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-41.7064	17.5201	0.87784	0.0:1.0:0.0:0.0	.	.	.	.	X	582;582;616;582;625;582	.	ENSP00000223341:E582X	E	-	1	0	URGCP	43883714	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	7.353000	0.79414	2.735000	0.93741	0.655000	0.94253	GAG		0.637	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		4	73	1	0	3.59834e-05	1	4.01776e-05	4	73				
WDFY1	57590	broad.mit.edu	37	2	224759041	224759041	+	Silent	SNP	C	C	T	rs367982741		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224759041C>T	ENST00000233055.4	-	8	843	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	247						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGTAGCACAGCGACTGCACCT	0.507																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(739-741)tcG>tcA		WD repeat and FYVE domain containing 1							164.0	121.0	136.0					2																	224759041		2203	4300	6503	SO:0001819	synonymous_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224759041C>T	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.741G>A	2.37:g.224759041C>T							p.S247S	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	8	843	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	247					Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	c.741G>A	CCDS33387.1																																																																																				0.507	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		9	27	0	0	0	1	0	9	27				
ASNS	440	broad.mit.edu	37	7	97493735	97493735	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97493735C>A	ENST00000394309.3	-	4	794	c.323G>T	c.(322-324)gGa>gTa	p.G108V	ASNS_ENST00000175506.4_Missense_Mutation_p.G108V|ASNS_ENST00000422745.1_Missense_Mutation_p.G87V|ASNS_ENST00000444334.1_Missense_Mutation_p.G87V|ASNS_ENST00000437628.1_Missense_Mutation_p.G25V|ASNS_ENST00000455086.1_Missense_Mutation_p.G25V|ASNS_ENST00000394308.3_Missense_Mutation_p.G108V	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	108	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCAATTCCTCCTTTGTCATA	0.368																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(322-324)gGa>gTa		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						52.0	46.0	48.0					7																	97493735		2203	4295	6498	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97493735C>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.323G>T	7.37:g.97493735C>A	ENSP00000377846:p.Gly108Val					ASNS_ENST00000422745.1_Missense_Mutation_p.G87V|ASNS_ENST00000394309.3_Missense_Mutation_p.G108V|ASNS_ENST00000444334.1_Missense_Mutation_p.G87V|ASNS_ENST00000437628.1_Missense_Mutation_p.G25V|ASNS_ENST00000394308.3_Missense_Mutation_p.G108V|ASNS_ENST00000455086.1_Missense_Mutation_p.G25V	p.G108V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			5	851	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		108			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.323G>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	6.716	0.500778	0.12822	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127	T;T;T;T;T;T;T;T	0.43294	0.97;0.97;0.98;0.97;0.96;0.98;0.96;0.95	4.2	3.29	0.37713	Glutamine amidotransferase, type II (1);	0.320980	0.33161	N	0.005220	T	0.25975	0.0633	L	0.34521	1.04	0.58432	D	0.999992	B	0.09022	0.002	B	0.14023	0.01	T	0.06356	-1.0831	10	0.18710	T	0.47	-8.3272	5.1089	0.14798	0.2086:0.6855:0.0:0.1059	.	108	P08243	ASNS_HUMAN	V	108;108;25;108;87;25;87;108;108;108	ENSP00000175506:G108V;ENSP00000377846:G108V;ENSP00000414379:G25V;ENSP00000377845:G108V;ENSP00000414901:G87V;ENSP00000408472:G25V;ENSP00000406994:G87V;ENSP00000400422:G108V	ENSP00000175506:G108V	G	-	2	0	ASNS	97331671	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.870000	0.48451	1.086000	0.41228	0.561000	0.74099	GGA		0.368	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		4	76	1	0	0.000602214	1	0.000649039	4	76				
SIPA1L2	57568	broad.mit.edu	37	1	232650749	232650749	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232650749C>T	ENST00000366630.1	-	2	695	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V113I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	113					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTGCAGGACAGAAGTGATG	0.502																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(337-339)Gtc>Atc		signal-induced proliferation-associated 1 like 2							147.0	144.0	145.0					1																	232650749		2042	4207	6249	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650749C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.337G>A	1.37:g.232650749C>T	ENSP00000355589:p.Val113Ile					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V113I	p.V113I			Q9P2F8	SI1L2_HUMAN			2	695	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	113					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.337G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.120639	0.01785	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.78707	-1.2;-1.2	5.19	-2.28	0.06826	.	0.485095	0.20755	N	0.086266	T	0.55401	0.1918	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37911	-0.9685	10	0.34782	T	0.22	-11.0181	5.8716	0.18807	0.0:0.4203:0.2736:0.3062	.	113	Q9P2F8	SI1L2_HUMAN	I	113	ENSP00000355589:V113I;ENSP00000262861:V113I	ENSP00000262861:V113I	V	-	1	0	SIPA1L2	230717372	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	0.291000	0.18994	-0.213000	0.10094	-0.181000	0.13052	GTC		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		39	101	0	0	0	1	0	39	101				
SEMA3F	6405	broad.mit.edu	37	3	50220121	50220121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50220121C>T	ENST00000002829.3	+	9	1292	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	SEMA3F_ENST00000413852.1_Missense_Mutation_p.R171C|SEMA3F_ENST00000434342.1_Missense_Mutation_p.R239C	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	270	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			Missing (in Ref. 2; AAB18276). {ECO:0000305}.	axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGTGCGGAGCGCAATGATGA	0.612																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(808-810)Cgc>Tgc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							70.0	78.0	75.0					3																	50220121		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50220121C>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.808C>T	3.37:g.50220121C>T	ENSP00000002829:p.Arg270Cys					SEMA3F_ENST00000434342.1_Missense_Mutation_p.R239C|SEMA3F_ENST00000413852.1_Missense_Mutation_p.R171C	p.R270C	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	9	1292	+			270	Missing (in Ref. 2; AAB18276).		Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.808C>T	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087765	0.76642	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.32	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.148332	0.64402	D	0.000020	T	0.41673	0.1169	L	0.45051	1.395	0.51012	D	0.999909	D;D	0.89917	1.0;1.0	D;D	0.68621	0.953;0.959	T	0.27123	-1.0083	10	0.87932	D	0	.	14.7349	0.69409	0.1454:0.8546:0.0:0.0	.	239;270	C9JQ85;Q13275	.;SEM3F_HUMAN	C	239;239;171;270;239	ENSP00000392588:R239C;ENSP00000398399:R239C;ENSP00000388931:R171C;ENSP00000002829:R270C;ENSP00000409859:R239C	ENSP00000002829:R270C	R	+	1	0	SEMA3F	50195125	0.989000	0.36119	1.000000	0.80357	0.607000	0.37147	0.949000	0.29109	2.645000	0.89757	0.462000	0.41574	CGC		0.612	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		28	38	0	0	0	1	0	28	38				
PIK3CB	5291	broad.mit.edu	37	3	138461598	138461598	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138461598C>A	ENST00000477593.1	-	4	496	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K141N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	141					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTTCAGGATCCTTCAAGGAAT	0.323																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(421-423)aaG>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							71.0	70.0	70.0					3																	138461598		2202	4300	6502	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138461598C>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.423G>T	3.37:g.138461598C>A	ENSP00000418143:p.Lys141Asn					PIK3CB_ENST00000289153.2_Missense_Mutation_p.K141N	p.K141N			P42338	PK3CB_HUMAN			4	496	-			141					D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.423G>T	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.064198|3.064198	0.55432|0.55432	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000289153|ENST00000462294	T;T|.	0.44482|.	0.92;0.92|.	6.02|6.02	4.02|4.02	0.46733|0.46733	.|.	0.257566|.	0.44483|.	D|.	0.000457|.	T|T	0.39332|0.39332	0.1074|0.1074	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.20605|0.20605	-1.0270|-1.0270	10|5	0.20519|.	T|.	0.43|.	-10.1734|-10.1734	4.3377|4.3377	0.11094|0.11094	0.0:0.5717:0.0:0.4283|0.0:0.5717:0.0:0.4283	.|.	141|.	P42338|.	PK3CB_HUMAN|.	N|M	141|9	ENSP00000418143:K141N;ENSP00000289153:K141N|.	ENSP00000289153:K141N|.	K|R	-|-	3|2	2|0	PIK3CB|PIK3CB	139944288|139944288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.523000|0.523000	0.22925|0.22925	1.564000|1.564000	0.49628|0.49628	0.591000|0.591000	0.81541|0.81541	AAG|AGG		0.323	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	48	1	0	0.000602214	1	0.000649039	4	48				
CFAP46	54777	broad.mit.edu	37	10	134743224	134743224	+	Silent	SNP	C	C	T	rs144339867		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134743224C>T	ENST00000368586.5	-	9	1051	c.951G>A	c.(949-951)aaG>aaA	p.K317K	TTC40_ENST00000368582.2_Silent_p.K317K|TTC40_ENST00000368585.3_Silent_p.K317K	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTTCCATCTTCTTCAGGTCTG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19520	0.0		0.001	False		,,,				2504	0.0					ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(949-951)aaG>aaA		tetratricopeptide repeat domain 40							107.0	103.0	104.0					10																	134743224		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134743224C>T																												ENST00000368586.5:c.951G>A	10.37:g.134743224C>T						TTC40_ENST00000368582.2_Silent_p.K317K|TTC40_ENST00000368585.3_Silent_p.K317K	p.K317K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			9	1051	-			0						Silent	SNP	ENST00000368586.5	37	c.951G>A	CCDS58101.1																																																																																				0.478	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			4	62	0	0	0	1	0	4	62				
CDH12	1010	broad.mit.edu	37	5	21751923	21751923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21751923C>A	ENST00000382254.1	-	15	3394	c.2308G>T	c.(2308-2310)Gac>Tac	p.D770Y	CDH12_ENST00000504376.2_Missense_Mutation_p.D770Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D730Y|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	770					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTCCCCAGTCTGTCAGATAG	0.507										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2308-2310)Gac>Tac		cadherin 12, type 2 (N-cadherin 2)							106.0	102.0	103.0					5																	21751923		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21751923C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2308G>T	5.37:g.21751923C>A	ENSP00000371689:p.Asp770Tyr	HNSCC(59;0.17)				RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D730Y|CDH12_ENST00000504376.2_Missense_Mutation_p.D770Y	p.D770Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3394	-			770					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2308G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685943	0.68157	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.79749	-1.3;-1.3;-1.3	5.18	5.18	0.71444	Cadherin, cytoplasmic domain (1);	0.247468	0.46758	D	0.000271	D	0.91962	0.7454	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.67231	0.947;0.95	D	0.93870	0.7161	10	0.87932	D	0	.	18.6788	0.91539	0.0:1.0:0.0:0.0	.	730;770	B7Z2U6;P55289	.;CAD12_HUMAN	Y	770;770;730	ENSP00000423577:D770Y;ENSP00000371689:D770Y;ENSP00000428786:D730Y	ENSP00000371689:D770Y	D	-	1	0	CDH12	21787680	1.000000	0.71417	0.923000	0.36655	0.766000	0.43426	7.818000	0.86416	2.413000	0.81919	0.467000	0.42956	GAC		0.507	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		41	49	1	0	1.48646e-12	1	1.87272e-12	41	49				
CPT1C	126129	broad.mit.edu	37	19	50209622	50209622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209622C>T	ENST00000392518.4	+	12	1667	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	CPT1C_ENST00000405931.2_Missense_Mutation_p.S421L|CPT1C_ENST00000323446.5_Missense_Mutation_p.S432L|CPT1C_ENST00000354199.5_Missense_Mutation_p.S432L|CPT1C_ENST00000598293.1_Missense_Mutation_p.S432L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	432					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCGGCAGCGTCGTTGGATGCC	0.672																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1294-1296)tCg>tTg		carnitine palmitoyltransferase 1C							18.0	22.0	21.0					19																	50209622		2189	4282	6471	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50209622C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1295C>T	19.37:g.50209622C>T	ENSP00000376303:p.Ser432Leu					CPT1C_ENST00000323446.5_Missense_Mutation_p.S432L|CPT1C_ENST00000598293.1_Missense_Mutation_p.S432L|CPT1C_ENST00000405931.2_Missense_Mutation_p.S421L|CPT1C_ENST00000354199.5_Missense_Mutation_p.S432L	p.S432L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	12	1667	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	432					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1295C>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936339	0.18206	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.23	3.12	0.35913	.	0.486044	0.17246	N	0.181351	D	0.82806	0.5117	L	0.45581	1.43	0.09310	N	1	P;B;B;B	0.36392	0.551;0.196;0.145;0.018	B;B;B;B	0.29862	0.108;0.017;0.014;0.06	T	0.77448	-0.2584	10	0.56958	D	0.05	-18.5539	11.0879	0.48097	0.0:0.8895:0.0:0.1105	.	303;432;421;432	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	L	432;432;421;432;303	ENSP00000376303:S432L;ENSP00000346138:S432L;ENSP00000384465:S421L;ENSP00000319343:S432L	ENSP00000295404:S303L	S	+	2	0	CPT1C	54901434	0.100000	0.21855	0.053000	0.19242	0.094000	0.18550	1.540000	0.36115	2.197000	0.70478	0.555000	0.69702	TCG		0.672	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		6	5	0	0	0	1	0	6	5				
GTF3C1	2975	broad.mit.edu	37	16	27544702	27544702	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544702G>C	ENST00000356183.4	-	5	774	c.759C>G	c.(757-759)agC>agG	p.S253R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S253R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	253					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTCGTATTTGCTCCTCCTGC	0.468																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(757-759)agC>agG		general transcription factor IIIC, polypeptide 1, alpha 220kDa							124.0	102.0	110.0					16																	27544702		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27544702G>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.759C>G	16.37:g.27544702G>C	ENSP00000348510:p.Ser253Arg					GTF3C1_ENST00000561623.1_Missense_Mutation_p.S253R	p.S253R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			5	774	-			253					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.759C>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452967	0.63290	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	5.96	3.57	0.40892	.	0.224065	0.48767	D	0.000171	T	0.33527	0.0866	L	0.29908	0.895	0.39181	D	0.962786	D;D	0.76494	0.999;0.997	D;D	0.68621	0.959;0.939	T	0.13764	-1.0497	10	0.52906	T	0.07	-4.2526	9.3473	0.38115	0.2831:0.0:0.7169:0.0	.	253;253	Q12789;Q12789-3	TF3C1_HUMAN;.	R	253;251	ENSP00000348510:S253R	ENSP00000348510:S253R	S	-	3	2	GTF3C1	27452203	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.719000	0.25881	1.369000	0.46134	0.650000	0.86243	AGC		0.468	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		3	53	0	0	0	1	0	3	53				
SNW1	22938	broad.mit.edu	37	14	78184425	78184425	+	3'UTR	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78184425C>A	ENST00000261531.7	-	0	1679				SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_3'UTR|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.R566M	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1						cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTGGAGAGACCTGTGCCTATT	0.468																																						ENST00000555761.1																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1696-1698)aGg>aTg		SNW domain containing 1							163.0	161.0	161.0					14																	78184425		2203	4300	6503	SO:0001624	3_prime_UTR_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184425C>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.*6G>T	14.37:g.78184425C>A						SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_3'UTR|SNW1_ENST00000261531.7_3'UTR	p.R566M			Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	13	1725	-			0					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1697G>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	4.158	0.027858	0.08054	.	.	ENSG00000100603	ENST00000555761	.	.	.	5.56	1.57	0.23409	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.22556	-1.0213	6	.	.	.	.	5.4501	0.16560	0.2606:0.3012:0.4382:0.0	.	566	G3V3A4	.	M	566	.	.	R	-	2	0	SNW1	77254178	0.002000	0.14202	0.000000	0.03702	0.021000	0.10359	1.101000	0.31037	0.289000	0.22422	-0.499000	0.04595	AGG		0.468	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		11	127	1	0	9.31168e-06	1	1.06029e-05	11	127				
SLC39A14	23516	broad.mit.edu	37	8	22273680	22273680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22273680G>A	ENST00000381237.1	+	7	1153	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	SLC39A14_ENST00000289952.5_Missense_Mutation_p.G345D|SLC39A14_ENST00000359741.5_Missense_Mutation_p.G345D|SLC39A14_ENST00000240095.6_Missense_Mutation_p.G345D	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	345					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTGAGCGACGGCCTCCATAAT	0.557																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(1033-1035)gGc>gAc		solute carrier family 39 (zinc transporter), member 14							104.0	96.0	99.0					8																	22273680		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22273680G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1034G>A	8.37:g.22273680G>A	ENSP00000370635:p.Gly345Asp					SLC39A14_ENST00000381237.1_Missense_Mutation_p.G345D|SLC39A14_ENST00000289952.5_Missense_Mutation_p.G345D|SLC39A14_ENST00000240095.6_Missense_Mutation_p.G345D	p.G345D	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	7	1209	+			345					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.1034G>A	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460386	0.96240	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000517370	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.99	5.99	0.97316	.	0.096016	0.64402	D	0.000001	T	0.78666	0.4319	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.988;0.995;0.997	T	0.81236	-0.1024	10	0.72032	D	0.01	-31.6043	19.2492	0.93917	0.0:0.0:1.0:0.0	.	345;345;345	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	D	345;345;345;345;168	ENSP00000352779:G345D;ENSP00000240095:G345D;ENSP00000370635:G345D;ENSP00000289952:G345D;ENSP00000427981:G168D	ENSP00000240095:G345D	G	+	2	0	SLC39A14	22329625	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.856000	0.86956	2.840000	0.97914	0.655000	0.94253	GGC		0.557	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		29	52	0	0	0	1	0	29	52				
THOP1	7064	broad.mit.edu	37	19	2794832	2794832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794832G>T	ENST00000307741.6	+	3	503	c.300G>T	c.(298-300)gaG>gaT	p.E100D	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	100					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCACAGAGGCCGACAAGA	0.587																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(298-300)gaG>gaT		thimet oligopeptidase 1							144.0	132.0	136.0					19																	2794832		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2794832G>T		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.300G>T	19.37:g.2794832G>T	ENSP00000304467:p.Glu100Asp						p.E100D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	503	+			100					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.300G>T	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059463	0.36373	.	.	ENSG00000172009	ENST00000307741	T	0.09255	3.0	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.107611	0.64402	D	0.000006	T	0.13329	0.0323	L	0.47078	1.49	0.80722	D	1	B	0.15473	0.013	B	0.14023	0.01	T	0.03060	-1.1077	10	0.42905	T	0.14	-50.016	17.405	0.87471	0.0:0.0:1.0:0.0	.	100	P52888	THOP1_HUMAN	D	100	ENSP00000304467:E100D	ENSP00000304467:E100D	E	+	3	2	THOP1	2745832	1.000000	0.71417	0.997000	0.53966	0.318000	0.28184	2.163000	0.42377	2.451000	0.82905	0.561000	0.74099	GAG		0.587	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			41	88	1	0	5.04308e-16	1	6.4936e-16	41	88				
PLEK	5341	broad.mit.edu	37	2	68609737	68609737	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68609737C>T	ENST00000234313.7	+	4	623	c.444C>T	c.(442-444)gaC>gaT	p.D148D		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	148	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGAGAAGGACAAGAAGATTT	0.413																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(442-444)gaC>gaT		pleckstrin							143.0	149.0	147.0					2																	68609737		2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68609737C>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.444C>T	2.37:g.68609737C>T							p.D148D	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	4	623	+		Ovarian(717;0.0129)	148			DEP.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.444C>T	CCDS1887.1																																																																																				0.413	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		36	82	0	0	0	1	0	36	82				
PLEKHS1	79949	broad.mit.edu	37	10	115531819	115531819	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115531819T>C	ENST00000369310.3	+	7	1187	c.625T>C	c.(625-627)Tat>Cat	p.Y209H	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.Y127H|PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.Y215H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.Y29H	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	209																	AGAGAATCATTATCTTACTCC	0.363																																						ENST00000361048.1																			0											c.(643-645)Tat>Cat		pleckstrin homology domain containing, family S member 1							160.0	146.0	151.0					10																	115531819		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115531819T>C	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.625T>C	10.37:g.115531819T>C	ENSP00000358316:p.Tyr209His					PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.Y209H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.Y127H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.Y29H	p.Y215H	NM_024889.4	NP_079165.3					8	970	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.643T>C	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667123	0.47677	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.63	5.63	0.86233	.	0.145122	0.47093	D	0.000245	T	0.53238	0.1784	M	0.70275	2.135	0.38101	D	0.937255	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.59021	-0.7532	10	0.49607	T	0.09	-21.6319	12.2323	0.54495	0.0:0.0:0.0:1.0	.	209;209;209;215	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	CJ081_HUMAN;.;.;.	H	215;127;209;29	ENSP00000354332:Y215H;ENSP00000358318:Y127H;ENSP00000358316:Y209H;ENSP00000358315:Y29H	ENSP00000354332:Y215H	Y	+	1	0	C10orf81	115521809	0.997000	0.39634	0.558000	0.28319	0.192000	0.23643	3.612000	0.54142	2.145000	0.66743	0.528000	0.53228	TAT		0.363	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		5	103	0	0	0	1	0	5	103				
ST3GAL6	10402	broad.mit.edu	37	3	98506939	98506939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98506939G>A	ENST00000483910.1	+	7	780	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	ST3GAL6_ENST00000265261.6_Missense_Mutation_p.R46Q|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.R164Q|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	164					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACAACCTTCCGACTTTTTTAT	0.383																																						ENST00000265261.6																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(136-138)cGa>cAa		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							96.0	95.0	95.0					3																	98506939		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98506939G>A	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.491G>A	3.37:g.98506939G>A	ENSP00000417376:p.Arg164Gln					ST3GAL6_ENST00000483910.1_Missense_Mutation_p.R164Q|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.R164Q	p.R46Q	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN			7	559	+			164					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.137G>A	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939769	0.92526	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000016	T	0.69913	0.3164	M	0.92833	3.35	0.49213	D	0.999765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.77429	-0.2591	10	0.87932	D	0	-22.8962	17.2504	0.87041	0.0:0.0:1.0:0.0	.	187;46;164	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	Q	164;46;132;164;164;132;187;78	ENSP00000417376:R164Q;ENSP00000265261:R46Q;ENSP00000417584:R132Q;ENSP00000418896:R164Q;ENSP00000377717:R164Q;ENSP00000418650:R132Q;ENSP00000417201:R187Q;ENSP00000419202:R78Q	ENSP00000265261:R46Q	R	+	2	0	ST3GAL6	99989629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.744000	0.74854	2.671000	0.90904	0.563000	0.77884	CGA		0.383	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		15	32	0	0	0	1	0	15	32				
C19orf44	84167	broad.mit.edu	37	19	16614097	16614097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16614097G>T	ENST00000221671.3	+	3	1137	c.981G>T	c.(979-981)aaG>aaT	p.K327N	C19orf44_ENST00000594035.1_Missense_Mutation_p.K327N|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	327										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGTCTTTAAAGATGGGGCATG	0.552																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(979-981)aaG>aaT		chromosome 19 open reading frame 44							88.0	88.0	88.0					19																	16614097		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16614097G>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.981G>T	19.37:g.16614097G>T	ENSP00000221671:p.Lys327Asn					C19orf44_ENST00000594035.1_Missense_Mutation_p.K327N|CTD-3222D19.2_ENST00000409035.1_Intron	p.K327N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			3	1137	+			327					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.981G>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073821	0.20147	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.34	-4.42	0.03579	.	1.334370	0.05271	N	0.517604	T	0.31949	0.0813	L	0.39898	1.24	0.09310	N	1	B;B	0.32160	0.358;0.358	B;B	0.32805	0.107;0.153	T	0.37033	-0.9723	9	0.52906	T	0.07	-0.0282	7.4215	0.27075	0.4438:0.1164:0.4398:0.0	.	327;327	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	N	327	.	ENSP00000221671:K327N	K	+	3	2	C19orf44	16475097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.887000	0.04152	-0.994000	0.03463	-0.797000	0.03246	AAG		0.552	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		11	67	1	0	4.68919e-08	1	5.58064e-08	11	67				
MAML1	9794	broad.mit.edu	37	5	179192400	179192400	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179192400A>G	ENST00000292599.3	+	2	652	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAATGGCTACGGGGACCTC	0.522																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(388-390)tAc>tGc		mastermind-like 1 (Drosophila)							70.0	75.0	73.0					5																	179192400		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192400A>G	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.389A>G	5.37:g.179192400A>G	ENSP00000292599:p.Tyr130Cys					MAML1_ENST00000503050.1_3'UTR	p.Y130C	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	652	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	130						Missense_Mutation	SNP	ENST00000292599.3	37	c.389A>G	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.883063	0.33255	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.44881	0.91	4.97	4.97	0.65823	.	0.201587	0.34386	N	0.004005	T	0.55705	0.1937	L	0.57536	1.79	0.44711	D	0.9977	D;D	0.62365	0.99;0.991	D;P	0.63703	0.917;0.711	T	0.56056	-0.8042	10	0.46703	T	0.11	-4.6618	11.0907	0.48115	0.8616:0.0:0.0:0.1384	.	167;130	Q59GH4;Q92585	.;MAML1_HUMAN	C	130;167	ENSP00000292599:Y130C	ENSP00000292599:Y130C	Y	+	2	0	MAML1	179125006	0.987000	0.35691	0.984000	0.44739	0.592000	0.36648	2.674000	0.46867	1.853000	0.53794	0.379000	0.24179	TAC		0.522	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		3	55	0	0	0	1	0	3	55				
ZNF112	7771	broad.mit.edu	37	19	44840821	44840821	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44840821T>A	ENST00000337401.4	-	4	281	c.193A>T	c.(193-195)Aag>Tag	p.K65*	CTC-512J12.6_ENST00000588212.1_Nonsense_Mutation_p.K64*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.K82*|ZNF112_ENST00000354340.4_Nonsense_Mutation_p.K59*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATCAAAAGCTTTTCTTCTCTC	0.463																																						ENST00000354340.4																			0											c.(175-177)Aag>Tag		zinc finger protein 112							149.0	134.0	139.0					19																	44840821		2203	4300	6503	SO:0001587	stop_gained	7665							g.chr19:44840821T>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.193A>T	19.37:g.44840821T>A	ENSP00000337081:p.Lys65*					CTC-512J12.6_ENST00000588212.1_Nonsense_Mutation_p.K64*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.K82*|ZNF112_ENST00000337401.4_Nonsense_Mutation_p.K65*	p.K59*	NM_013380.3	NP_037512.3					3	226	-								A4FU53|Q9HCA7	Nonsense_Mutation	SNP	ENST00000337401.4	37	c.175A>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187879	0.78789	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	4.25	-1.8	0.07907	.	0.000000	0.33327	N	0.005025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-2.457	5.329	0.15922	0.0:0.4567:0.184:0.3593	.	.	.	.	X	65;65;59;82;64	.	ENSP00000253426:K64X	K	-	1	0	ZNF285	49532661	0.087000	0.21565	0.386000	0.26170	0.899000	0.52679	0.035000	0.13797	-0.290000	0.09025	0.379000	0.24179	AAG		0.463	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		34	50	0	0	0	1	0	34	50				
SYTL2	54843	broad.mit.edu	37	11	85445108	85445108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445108G>A	ENST00000528231.1	-	6	1538	c.1261C>T	c.(1261-1263)Cat>Tat	p.H421Y	SYTL2_ENST00000389960.4_Missense_Mutation_p.H421Y|SYTL2_ENST00000524452.1_Missense_Mutation_p.H421Y|SYTL2_ENST00000316356.4_Missense_Mutation_p.H422Y|SYTL2_ENST00000527523.1_Missense_Mutation_p.H373Y	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	421					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAATGAGAATGCAGCCCATTA	0.378																																						ENST00000316356.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1264-1266)Cat>Tat		synaptotagmin-like 2							150.0	144.0	146.0					11																	85445108		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445108G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1261C>T	11.37:g.85445108G>A	ENSP00000431701:p.His421Tyr					SYTL2_ENST00000527523.1_Missense_Mutation_p.H373Y|SYTL2_ENST00000389960.4_Missense_Mutation_p.H421Y|SYTL2_ENST00000524452.1_Missense_Mutation_p.H421Y|SYTL2_ENST00000528231.1_Missense_Mutation_p.H421Y	p.H422Y			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1828	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	421					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1264C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934441	0.18206	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.25414	1.9;1.9;1.9;1.8;1.9	6.08	-3.44	0.04796	.	.	.	.	.	T	0.12050	0.0293	L	0.36672	1.1	0.09310	N	1	B;P;B;B;P	0.40250	0.36;0.588;0.246;0.36;0.709	B;B;B;B;B	0.33750	0.074;0.169;0.081;0.169;0.169	T	0.15867	-1.0422	8	.	.	.	.	0.0533	0.00012	0.27:0.2119:0.231:0.2871	.	373;421;421;422;279	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	Y	421;422;421;373;421	ENSP00000374610:H421Y;ENSP00000318803:H422Y;ENSP00000431701:H421Y;ENSP00000434010:H373Y;ENSP00000435238:H421Y	.	H	-	1	0	SYTL2	85122756	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-0.394000	0.07296	-0.529000	0.06358	0.655000	0.94253	CAT		0.378	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		59	76	0	0	0	1	0	59	76				
SLC25A14	9016	broad.mit.edu	37	X	129480618	129480618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129480618G>A	ENST00000218197.5	+	3	497	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000543953.1_Silent_p.A55A	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													G|||	1	0.000264901	0.0	0.0	3775	,	,		14623	0.0		0.0	False		,,,				2504	0.001					ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(163-165)gcG>gcA		solute carrier family 25 (mitochondrial carrier, brain), member 14							154.0	140.0	145.0					X																	129480618		2203	4299	6502	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129480618G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.270G>A	X.37:g.129480618G>A						SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000545805.1_Silent_p.A90A	p.A55A			O95258	UCP5_HUMAN			3	214	+			90		E -> A (in dbSNP:rs2143598).			D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.165G>A	CCDS14623.1																																																																																				0.423	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		49	85	0	0	0	1	0	49	85				
ECT2	1894	broad.mit.edu	37	3	172482141	172482141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482141G>A	ENST00000392692.3	+	12	1318	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	ECT2_ENST00000417960.1_Missense_Mutation_p.R349H|ECT2_ENST00000441497.2_Missense_Mutation_p.R350H|ECT2_ENST00000232458.5_Missense_Mutation_p.R350H|ECT2_ENST00000427830.1_Missense_Mutation_p.R350H|ECT2_ENST00000540509.1_Missense_Mutation_p.R381H	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	381					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CGCAAACGACGTCGTTTAAAA	0.453																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1045-1047)cGt>cAt		epithelial cell transforming sequence 2 oncogene							124.0	111.0	116.0					3																	172482141		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172482141G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1142G>A	3.37:g.172482141G>A	ENSP00000376457:p.Arg381His					ECT2_ENST00000441497.2_Missense_Mutation_p.R350H|ECT2_ENST00000392692.3_Missense_Mutation_p.R381H|ECT2_ENST00000232458.5_Missense_Mutation_p.R350H|ECT2_ENST00000540509.1_Missense_Mutation_p.R381H|ECT2_ENST00000427830.1_Missense_Mutation_p.R350H	p.R349H	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		12	1523	+	Ovarian(172;0.00197)|Breast(254;0.158)		350					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1046G>A	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.719187|4.719187	0.89205|0.89205	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000444250	T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71417|0.71417	0.3337|0.3337	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.89917|.	0.886;0.999;1.0;0.87|.	B;D;D;B|.	0.71870|.	0.237;0.966;0.975;0.186|.	T|T	0.68364|0.68364	-0.5428|-0.5428	10|5	0.66056|.	D|.	0.02|.	-12.8925|-12.8925	19.0291|19.0291	0.92948|0.92948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	381;381;350;349|.	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.|.	H|I	350;381;350;349;350;381|53	ENSP00000232458:R350H;ENSP00000376457:R381H;ENSP00000401910:R350H;ENSP00000415876:R349H;ENSP00000412259:R350H;ENSP00000443160:R381H|.	ENSP00000232458:R350H|.	R|V	+|+	2|1	0|0	ECT2|ECT2	173964835|173964835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.414000|9.414000	0.97362|0.97362	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.453	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		28	36	0	0	0	1	0	28	36				
FBXO25	26260	broad.mit.edu	37	8	418714	418714	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:418714G>T	ENST00000276326.5	+	11	1133		c.e11-1		FBXO25_ENST00000382824.1_Splice_Site|FBXO25_ENST00000350302.3_Splice_Site|FBXO25_ENST00000352684.2_Splice_Site	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25						protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CCTCCCCACAGGACTCAGGAC	0.617																																						ENST00000352684.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.e9-1		F-box protein 25							45.0	45.0	45.0					8																	418714		2203	4300	6503	SO:0001630	splice_region_variant	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:418714G>T	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.1015-1G>T	8.37:g.418714G>T						FBXO25_ENST00000350302.3_Splice_Site|FBXO25_ENST00000382824.1_Splice_Site|FBXO25_ENST00000276326.5_Splice_Site		NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	9	1203	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)						Q6PJ83|Q7Z4V4|Q9UKB8	Splice_Site	SNP	ENST00000276326.5	37		CCDS5953.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961974	0.74016	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3742	0.87387	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO25	408714	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.133000	0.94460	2.702000	0.92279	0.467000	0.42956	.		0.617	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173	Intron	4	12	1	0	0.014758	1	0.0152625	4	12				
GRM5	2915	broad.mit.edu	37	11	88242605	88242605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242605G>A	ENST00000305447.4	-	9	2943	c.2794C>T	c.(2794-2796)Cgc>Tgc	p.R932C	GRM5_ENST00000305432.5_Missense_Mutation_p.R900C|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Missense_Mutation_p.R900C|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Missense_Mutation_p.R932C|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	932					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATGGACAGGCGCTGCCACAGG	0.597																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2794-2796)Cgc>Tgc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						26.0	28.0	27.0					11																	88242605		2042	4134	6176	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242605G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2794C>T	11.37:g.88242605G>A	ENSP00000306138:p.Arg932Cys					GRM5_ENST00000305447.4_Missense_Mutation_p.R932C|GRM5_ENST00000305432.5_Missense_Mutation_p.R900C|GRM5_ENST00000455756.2_Missense_Mutation_p.R900C|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron	p.R932C			P41594	GRM5_HUMAN			10	3161	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	932					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2794C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730020	0.69074	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.29	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.68317	2.08	0.47698	D	0.999493	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.72456	-0.4288	9	.	.	.	.	14.5311	0.67926	0.0:0.0:0.5031:0.4969	.	900;932	P41594-2;P41594	.;GRM5_HUMAN	C	932;900;900;932	ENSP00000402912:R932C;ENSP00000405690:R900C;ENSP00000305905:R900C;ENSP00000306138:R932C	.	R	-	1	0	GRM5	87882253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.546000	0.23284	0.566000	0.29273	0.655000	0.94253	CGC		0.597	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		19	22	0	0	0	1	0	19	22				
ZNF624	57547	broad.mit.edu	37	17	16526599	16526599	+	Missense_Mutation	SNP	C	C	T	rs200875617		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16526599C>T	ENST00000311331.7	-	6	1692	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAATGCTTTCCCACATTCATT	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(1600-1602)gGg>gAg		zinc finger protein 624							98.0	104.0	102.0					17																	16526599		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526599C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1601G>A	17.37:g.16526599C>T	ENSP00000310472:p.Gly534Glu						p.G534E	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1692	-			534					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1601G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507127	0.44558	.	.	ENSG00000197566	ENST00000311331	T	0.07114	3.22	2.88	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18676	0.0448	M	0.61703	1.905	0.34043	D	0.655278	D	0.60575	0.988	P	0.55667	0.781	T	0.28776	-1.0033	9	0.66056	D	0.02	.	11.985	0.53142	0.0:1.0:0.0:0.0	.	534	Q9P2J8	ZN624_HUMAN	E	534	ENSP00000310472:G534E	ENSP00000310472:G534E	G	-	2	0	ZNF624	16467324	0.537000	0.26386	1.000000	0.80357	0.995000	0.86356	0.939000	0.28978	1.907000	0.55213	0.561000	0.74099	GGG		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		6	105	0	0	0	1	0	6	105				
LRP1	4035	broad.mit.edu	37	12	57532252	57532252	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57532252T>G	ENST00000243077.3	+	2	544	c.78T>G	c.(76-78)acT>acG	p.T26T	LRP1_ENST00000554174.1_Silent_p.T26T|LRP1_ENST00000553277.1_Silent_p.T26T|LRP1_ENST00000338962.4_Silent_p.T26T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	26	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCTAAGACTTGCAGCCCCA	0.532																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(76-78)acT>acG		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						148.0	149.0	149.0					12																	57532252		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57532252T>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.78T>G	12.37:g.57532252T>G						LRP1_ENST00000553277.1_Silent_p.T26T|LRP1_ENST00000554174.1_Silent_p.T26T|LRP1_ENST00000338962.4_Silent_p.T26T	p.T26T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	2	544	+			26			LDL-receptor class A 1.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.78T>G	CCDS8932.1																																																																																				0.532	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	109	0	0	0	1	0	8	109				
SCNN1B	6338	broad.mit.edu	37	16	23379247	23379247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23379247G>A	ENST00000343070.2	+	5	1023	c.847G>A	c.(847-849)Gca>Aca	p.A283T	SCNN1B_ENST00000568923.1_Missense_Mutation_p.A256T|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A328T|SCNN1B_ENST00000568085.1_Missense_Mutation_p.A283T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	283					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GACAGAGAAGGCACTTCCTTC	0.507																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(847-849)Gca>Aca		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						248.0	190.0	210.0					16																	23379247		2197	4300	6497	SO:0001583	missense	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23379247G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.847G>A	16.37:g.23379247G>A	ENSP00000345751:p.Ala283Thr					SCNN1B_ENST00000568085.1_Missense_Mutation_p.A283T|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A256T|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A328T	p.A283T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	5	1023	+			283					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.847G>A	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684024	0.29872	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62941	-0.01;-0.01	5.44	1.09	0.20402	.	0.380251	0.22352	N	0.061183	T	0.40791	0.1131	N	0.20986	0.625	0.25495	N	0.987606	B	0.06786	0.001	B	0.14023	0.01	T	0.16748	-1.0392	10	0.25751	T	0.34	-10.3882	5.9939	0.19483	0.2678:0.1299:0.6023:0.0	.	283	P51168	SCNNB_HUMAN	T	283;328	ENSP00000345751:A283T;ENSP00000302874:A328T	ENSP00000302874:A328T	A	+	1	0	SCNN1B	23286748	0.887000	0.30362	0.452000	0.26994	0.847000	0.48162	2.072000	0.41510	-0.016000	0.14127	0.643000	0.83706	GCA		0.507	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			46	84	0	0	0	1	0	46	84				
TCTEX1D1	200132	broad.mit.edu	37	1	67243109	67243109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67243109C>T	ENST00000282670.2	+	5	640	c.512C>T	c.(511-513)gCa>gTa	p.A171V		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	171										large_intestine(2)|lung(10)|skin(1)	13						TTCGCTCTTGCAAATGTCTAT	0.368																																						ENST00000282670.2																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(511-513)gCa>gTa		Tctex1 domain containing 1							120.0	125.0	123.0					1																	67243109		2203	4300	6503	SO:0001583	missense	200132							g.chr1:67243109C>T	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.512C>T	1.37:g.67243109C>T	ENSP00000282670:p.Ala171Val						p.A171V	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN			5	640	+			171					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.512C>T	CCDS633.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009478	0.93346	.	.	ENSG00000152760	ENST00000282670	T	0.25414	1.8	5.93	5.93	0.95920	.	0.048261	0.85682	D	0.000000	T	0.37128	0.0992	M	0.70903	2.155	0.80722	D	1	P	0.50272	0.933	P	0.57057	0.812	T	0.01356	-1.1376	10	0.23302	T	0.38	-13.7094	19.949	0.97192	0.0:1.0:0.0:0.0	.	171	Q8N7M0	TC1D1_HUMAN	V	171	ENSP00000282670:A171V	ENSP00000282670:A171V	A	+	2	0	TCTEX1D1	67015697	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.036000	0.76524	2.826000	0.97356	0.655000	0.94253	GCA		0.368	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		11	96	0	0	0	1	0	11	96				
FRY	10129	broad.mit.edu	37	13	32826033	32826033	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32826033T>C	ENST00000380250.3	+	50	7685	c.7189T>C	c.(7189-7191)Ttg>Ctg	p.L2397L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2397						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAAGAGAAGTTGGTACATGT	0.403																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7189-7191)Ttg>Ctg		furry homolog (Drosophila)							208.0	196.0	200.0					13																	32826033		1857	4106	5963	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32826033T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7189T>C	13.37:g.32826033T>C							p.L2397L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	50	7685	+		Lung SC(185;0.0271)	2397					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.7189T>C	CCDS41875.1																																																																																				0.403	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		10	97	0	0	0	1	0	10	97				
ZNF792	126375	broad.mit.edu	37	19	35450383	35450383	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35450383G>T	ENST00000404801.1	-	4	762	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	ZNF792_ENST00000605484.1_Missense_Mutation_p.L59M	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGGGGGCACAGAGTTGCCTCG	0.507																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(376-378)Ctg>Atg		zinc finger protein 792							110.0	107.0	108.0					19																	35450383		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35450383G>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.376C>A	19.37:g.35450383G>T	ENSP00000385099:p.Leu126Met					ZNF792_ENST00000605484.1_Missense_Mutation_p.L59M	p.L126M	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	762	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		126					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.376C>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	11.34	1.609856	0.28712	.	.	ENSG00000180884	ENST00000404801	T	0.07800	3.16	3.16	-5.94	0.02247	.	.	.	.	.	T	0.08179	0.0204	L	0.43152	1.355	0.09310	N	1	D	0.55385	0.971	P	0.47299	0.543	T	0.08310	-1.0728	9	0.39692	T	0.17	.	7.1972	0.25860	0.2038:0.5528:0.2434:0.0	.	126	Q3KQV3	ZN792_HUMAN	M	126	ENSP00000385099:L126M	ENSP00000385099:L126M	L	-	1	2	ZNF792	40142223	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.216000	0.09266	-1.039000	0.03275	-0.499000	0.04595	CTG		0.507	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		9	86	1	0	0.000442599	1	0.00048047	9	86				
SYTL1	84958	broad.mit.edu	37	1	27674031	27674031	+	Missense_Mutation	SNP	C	C	T	rs150662670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27674031C>T	ENST00000543823.1	+	2	773	c.311C>T	c.(310-312)gCg>gTg	p.A104V	SYTL1_ENST00000318074.5_Missense_Mutation_p.A104V			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	104					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGTCCGAGCGTCTATGCGC	0.632																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(310-312)gCg>gTg		synaptotagmin-like 1		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	60.0	57.0	58.0		311,311	4.5	1.0	1	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYTL1	NM_001193308.1,NM_032872.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	104/563,104/551	27674031	1,13005	2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27674031C>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.311C>T	1.37:g.27674031C>T	ENSP00000440704:p.Ala104Val					SYTL1_ENST00000318074.5_Missense_Mutation_p.A104V	p.A104V			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	773	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	104					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.311C>T	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324203	0.95708	0.0	1.16E-4	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.29917	1.56;1.55	4.54	4.54	0.55810	.	0.396881	0.27424	N	0.019433	T	0.53222	0.1783	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.972;1.0	D;D;B;D	0.79108	0.929;0.992;0.373;0.968	T	0.52343	-0.8588	10	0.41790	T	0.15	-18.1108	16.2289	0.82318	0.0:1.0:0.0:0.0	.	104;104;104;104	A8KAH3;G3V181;Q8IYJ3;Q8IYJ3-2	.;.;SYTL1_HUMAN;.	V	104	ENSP00000316464:A104V;ENSP00000440704:A104V	ENSP00000316464:A104V	A	+	2	0	SYTL1	27546618	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	6.509000	0.73725	2.340000	0.79590	0.561000	0.74099	GCG		0.632	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		23	30	0	0	0	1	0	23	30				
CCDC85A	114800	broad.mit.edu	37	2	56420564	56420564	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56420564G>T	ENST00000407595.2	+	2	1731	c.1229G>T	c.(1228-1230)aGt>aTt	p.S410I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	410										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGTCTACAGTGGCATGAAC	0.592																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1228-1230)aGt>aTt		coiled-coil domain containing 85A							41.0	51.0	48.0					2																	56420564		2191	4280	6471	SO:0001583	missense	114800							g.chr2:56420564G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1229G>T	2.37:g.56420564G>T	ENSP00000384040:p.Ser410Ile					RP11-482H16.1_ENST00000607540.1_RNA	p.S410I	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1731	+			410						Missense_Mutation	SNP	ENST00000407595.2	37	c.1229G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524183	0.64747	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.11	5.11	0.69529	.	0.135335	0.64402	D	0.000001	T	0.36082	0.0954	L	0.29908	0.895	0.80722	D	1	P	0.51653	0.947	P	0.44597	0.454	T	0.28586	-1.0039	9	0.87932	D	0	-44.5486	6.6668	0.23044	0.2246:0.0:0.7754:0.0	.	410	Q96PX6	CC85A_HUMAN	I	410	.	ENSP00000384040:S410I	S	+	2	0	CCDC85A	56274068	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.514000	0.67043	2.376000	0.81061	0.484000	0.47621	AGT		0.592	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			4	8	1	0	0.184627	1	0.186383	4	8				
OVCH1	341350	broad.mit.edu	37	12	29607774	29607774	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29607774C>T	ENST00000318184.5	-	21	2529	c.2530G>A	c.(2530-2532)Ggt>Agt	p.G844S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	844						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATTTATTACCTGGCCAAGAT	0.373																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.e21+1		ovochymase 1							127.0	124.0	125.0					12																	29607774		1888	4109	5997	SO:0001630	splice_region_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29607774C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2530+1G>A	12.37:g.29607774C>T						OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.G844_splice	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			21	2529	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		844						Splice_Site	SNP	ENST00000318184.5	37	c.2530_splice		.	.	.	.	.	.	.	.	.	.	C	17.92	3.505762	0.64410	.	.	ENSG00000187950	ENST00000318184	D	0.85861	-2.04	3.06	3.06	0.35304	CUB (1);	.	.	.	.	T	0.77260	0.4104	N	0.19112	0.55	0.09310	N	0.999999	D	0.64830	0.994	P	0.47346	0.544	T	0.66212	-0.5980	8	.	.	.	.	9.8617	0.41118	0.0:1.0:0.0:0.0	.	844	Q7RTY7	OVCH1_HUMAN	S	844	ENSP00000326708:G844S	.	G	-	1	0	OVCH1	29499041	0.818000	0.29161	0.402000	0.26371	0.368000	0.29767	2.359000	0.44142	2.019000	0.59389	0.655000	0.94253	GGT		0.373	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Missense_Mutation	7	14	0	0	0	1	0	7	14				
PITPNM3	83394	broad.mit.edu	37	17	6364870	6364870	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6364870C>A	ENST00000262483.8	-	18	2400	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.W735C	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	771					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCAAGTCCTGCCAGTGCCTGG	0.632																																						ENST00000262483.8																			0											c.(2311-2313)tgG>tgT									133.0	123.0	126.0					17																	6364870		2203	4300	6503	SO:0001583	missense	0							g.chr17:6364870C>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2313G>T	17.37:g.6364870C>A	ENSP00000262483:p.Trp771Cys					ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.W735C	p.W771C	NM_031220.3	NP_112497.2					18	2400	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2313G>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924204	0.73213	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76060	-0.99;-0.99	4.35	4.35	0.52113	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.87605	0.6219	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.853	D	0.90074	0.4165	10	0.87932	D	0	.	14.3788	0.66897	0.0:1.0:0.0:0.0	.	735;771	F8WEW5;Q9BZ71	.;PITM3_HUMAN	C	771;735	ENSP00000262483:W771C;ENSP00000407882:W735C	ENSP00000262483:W771C	W	-	3	0	PITPNM3	6305594	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.485000	0.81204	2.258000	0.74832	0.407000	0.27541	TGG		0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		41	61	1	0	6.1244e-12	1	7.67368e-12	41	61				
ALOX5	240	broad.mit.edu	37	10	45878107	45878107	+	Silent	SNP	G	G	A	rs553979205		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45878107G>A	ENST00000374391.2	+	2	380	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ALOX5_ENST00000542434.1_Silent_p.E109E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	109	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GCGATGTCGAGGTTGTCCTGA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20554	0.0		0.0	False		,,,				2504	0.001					ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(325-327)gaG>gaA		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						54.0	46.0	48.0					10																	45878107		2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45878107G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.327G>A	10.37:g.45878107G>A						ALOX5_ENST00000542434.1_Silent_p.E109E	p.E109E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			2	380	+		Lung SC(717;0.0257)	109			PLAT.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.327G>A	CCDS7212.1																																																																																				0.587	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			4	9	0	0	0	1	0	4	9				
SUGP1	57794	broad.mit.edu	37	19	19416805	19416805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19416805G>A	ENST00000247001.5	-	4	738	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUGP1_ENST00000334782.5_Missense_Mutation_p.R131W|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	131					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGGCCTGTCCGCCTGCTGATG	0.692																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(391-393)Cgg>Tgg		SURP and G patch domain containing 1							13.0	14.0	14.0					19																	19416805		2123	4170	6293	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19416805G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.391C>T	19.37:g.19416805G>A	ENSP00000247001:p.Arg131Trp					SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.R131W	p.R131W	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			4	738	-			131					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.391C>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209362	0.39003	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.26373	1.74	3.63	2.43	0.29744	.	0.000000	0.64402	D	0.000001	T	0.35885	0.0947	L	0.35341	1.055	0.46927	D	0.999256	D	0.89917	1.0	D	0.87578	0.998	T	0.16305	-1.0407	10	0.66056	D	0.02	.	10.5702	0.45196	0.0:0.0:0.7925:0.2075	.	131	Q8IWZ8	SUGP1_HUMAN	W	131	ENSP00000247001:R131W	ENSP00000247001:R131W	R	-	1	2	SUGP1	19277805	1.000000	0.71417	0.948000	0.38648	0.801000	0.45260	3.323000	0.52014	1.551000	0.49450	0.655000	0.94253	CGG		0.692	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		11	14	0	0	0	1	0	11	14				
PICALM	8301	broad.mit.edu	37	11	85693047	85693047	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85693047C>A	ENST00000393346.3	-	15	1665		c.e15-1		PICALM_ENST00000526033.1_Splice_Site|PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000528398.1_Splice_Site|PICALM_ENST00000532317.1_Splice_Site			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCATCAAAGCCTTAAAGTTAC	0.408			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.e15-1		phosphatidylinositol binding clathrin assembly protein							98.0	95.0	96.0					11																	85693047		2203	4299	6502	SO:0001630	splice_region_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85693047C>A	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1517-1G>T	11.37:g.85693047C>A						PICALM_ENST00000528398.1_Splice_Site|PICALM_ENST00000393346.3_Splice_Site|PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000532317.1_Splice_Site		NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			15	1812	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)						B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Splice_Site	SNP	ENST00000393346.3	37		CCDS8272.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249521	0.80024	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000529016	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5914	0.95514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PICALM	85370695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.896000	0.75665	2.720000	0.93068	0.591000	0.81541	.		0.408	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	Intron	9	74	1	0	1.76689e-08	1	2.11513e-08	9	74				
ADAMTS12	81792	broad.mit.edu	37	5	33577233	33577233	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33577233A>G	ENST00000504830.1	-	19	3233	c.2898T>C	c.(2896-2898)atT>atC	p.I966I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.I881I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	966	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGACACTGCGAATCCGCACTC	0.498										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2896-2898)atT>atC		ADAM metallopeptidase with thrombospondin type 1 motif, 12							97.0	93.0	94.0					5																	33577233		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577233A>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2898T>C	5.37:g.33577233A>G		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.I881I	p.I966I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3233	-			966			TSP type-1 4.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2898T>C	CCDS34140.1																																																																																				0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		31	50	0	0	0	1	0	31	50				
NCOR2	9612	broad.mit.edu	37	12	124817694	124817694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124817694C>A	ENST00000405201.1	-	42	6737	c.6737G>T	c.(6736-6738)gGg>gTg	p.G2246V	NCOR2_ENST00000404621.1_Missense_Mutation_p.G2236V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G2236V|NCOR2_ENST00000356219.3_Missense_Mutation_p.G2253V|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1807V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G2237V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2257					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTCTGTTCCCCATCCCGGTA	0.652																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(6757-6759)gGg>gTg		nuclear receptor corepressor 2							57.0	67.0	64.0					12																	124817694		2095	4218	6313	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124817694C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6737G>T	12.37:g.124817694C>A	ENSP00000384018:p.Gly2246Val					NCOR2_ENST00000404621.1_Missense_Mutation_p.G2236V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G2237V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G2236V|NCOR2_ENST00000405201.1_Missense_Mutation_p.G2246V|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1807V	p.G2253V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	43	6913	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2257					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6758G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.26|15.26	2.781731|2.781731	0.49891|0.49891	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000443451;ENST00000440337	T;T;T;T;T;T|.	0.20332|.	2.08;2.35;2.08;2.35;2.09;2.35|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.197566|0.197566	0.43919|0.43919	D|D	0.000504|0.000504	T|T	0.74152|0.74152	0.3679|0.3679	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.676;0.95|.	D;P;P|.	0.91635|.	0.999;0.733;0.73|.	T|T	0.77963|0.77963	-0.2390|-0.2390	10|7	0.72032|0.87932	D|D	0.01|0	-42.6045|-42.6045	17.879|17.879	0.88834|0.88834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2237;2246;2257|.	C9J239;C9JFD3;Q9Y618|.	.;.;NCOR2_HUMAN|.	V|W	2246;2236;2253;2237;2245;1807;338;2236|119;37	ENSP00000384018:G2246V;ENSP00000384202:G2236V;ENSP00000348551:G2253V;ENSP00000380513:G2237V;ENSP00000385618:G1807V;ENSP00000400281:G2236V|.	ENSP00000348551:G2253V|ENSP00000398963:G37W	G|G	-|-	2|1	0|0	NCOR2|NCOR2	123383647|123383647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.545000|0.545000	0.35147|0.35147	5.365000|5.365000	0.66116|0.66116	2.196000|2.196000	0.70406|0.70406	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		7	40	1	0	5.18039e-06	1	5.91835e-06	7	40				
FNIP1	96459	broad.mit.edu	37	5	131039847	131039847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131039847C>A	ENST00000510461.1	-	10	1122	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	FNIP1_ENST00000511848.1_Missense_Mutation_p.D343Y|FNIP1_ENST00000307968.7_Missense_Mutation_p.D315Y|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.D298Y	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	343					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTATTTTCATCTTCATCTTTG	0.343																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(943-945)Gat>Tat		folliculin interacting protein 1							62.0	65.0	64.0					5																	131039847		2202	4295	6497	SO:0001583	missense	96459							g.chr5:131039847C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1027G>T	5.37:g.131039847C>A	ENSP00000421985:p.Asp343Tyr					FNIP1_ENST00000307954.8_Missense_Mutation_p.D298Y|FNIP1_ENST00000511848.1_Missense_Mutation_p.D343Y|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.D343Y	p.D315Y	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	9	942	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.943G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427940	0.83667	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.75	5.75	0.90469	.	.	.	.	.	T	0.46833	0.1413	L	0.43152	1.355	0.58432	D	0.999991	D;P;D;D	0.59767	0.986;0.904;0.986;0.98	P;P;P;P	0.58721	0.742;0.564;0.742;0.844	T	0.36089	-0.9762	9	0.72032	D	0.01	-9.9732	19.9522	0.97203	0.0:1.0:0.0:0.0	.	343;343;315;343	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	Y	315;298;103;343;343	ENSP00000309266:D315Y;ENSP00000310453:D298Y;ENSP00000421985:D343Y;ENSP00000425619:D343Y	ENSP00000310453:D298Y	D	-	1	0	FNIP1	131067746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.009000	0.70745	2.725000	0.93324	0.655000	0.94253	GAT		0.343	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		21	47	1	0	5.35356e-11	1	6.64197e-11	21	47				
SLC44A1	23446	broad.mit.edu	37	9	108110667	108110667	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108110667G>T	ENST00000374720.3	+	5	682	c.435G>T	c.(433-435)aaG>aaT	p.K145N	SLC44A1_ENST00000374724.1_Missense_Mutation_p.K145N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.K145N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	145					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ACAACCTAAAGCCTTCTGAAT	0.363																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(433-435)aaG>aaT		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						120.0	119.0	120.0					9																	108110667		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108110667G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.435G>T	9.37:g.108110667G>T	ENSP00000363852:p.Lys145Asn					SLC44A1_ENST00000374723.1_Missense_Mutation_p.K145N|SLC44A1_ENST00000374724.1_Missense_Mutation_p.K145N	p.K145N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			5	682	+			145					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.435G>T	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	4.521	0.096600	0.08681	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.78924	-1.22;-1.22;-1.22	5.46	3.51	0.40186	.	0.484707	0.24056	N	0.041960	T	0.49525	0.1562	N	0.04260	-0.245	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.42515	-0.9447	10	0.06625	T	0.88	-7.3042	7.8699	0.29561	0.0743:0.0:0.6483:0.2774	.	145;145	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	N	145	ENSP00000363855:K145N;ENSP00000363852:K145N;ENSP00000363856:K145N	ENSP00000363852:K145N	K	+	3	2	SLC44A1	107150488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.496000	0.35638	1.303000	0.44873	0.655000	0.94253	AAG		0.363	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		34	51	1	0	3.66082e-28	1	4.8918e-28	34	51				
ASPH	444	broad.mit.edu	37	8	62563619	62563619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62563619G>A	ENST00000379454.4	-	5	667	c.480C>T	c.(478-480)caC>caT	p.H160H	ASPH_ENST00000517903.1_Silent_p.H146H|ASPH_ENST00000445642.3_Silent_p.H146H|ASPH_ENST00000517847.2_Silent_p.H146H|ASPH_ENST00000541428.1_Silent_p.H131H|ASPH_ENST00000522835.1_Silent_p.H146H|ASPH_ENST00000518068.1_Silent_p.H160H|ASPH_ENST00000356457.5_Silent_p.H160H	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	160	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATGTTCTGCGTGTACCATTT	0.313																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(391-393)caC>caT		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						167.0	158.0	161.0					8																	62563619		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62563619G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.480C>T	8.37:g.62563619G>A						ASPH_ENST00000517903.1_Silent_p.H146H|ASPH_ENST00000379454.4_Silent_p.H160H|ASPH_ENST00000445642.3_Silent_p.H146H|ASPH_ENST00000518068.1_Silent_p.H160H|ASPH_ENST00000522835.1_Silent_p.H146H|ASPH_ENST00000356457.5_Silent_p.H160H|ASPH_ENST00000517847.2_Silent_p.H146H	p.H131H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			5	553	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	160			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.393C>T	CCDS34898.1																																																																																				0.313	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		30	56	0	0	0	1	0	30	56				
HMCN1	83872	broad.mit.edu	37	1	186072761	186072761	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186072761T>G	ENST00000271588.4	+	69	10960	c.10731T>G	c.(10729-10731)acT>acG	p.T3577T	HMCN1_ENST00000367492.2_Silent_p.T3577T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3577	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGTGCAAACTCTAGGAGGAG	0.443																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10729-10731)acT>acG		hemicentin 1							62.0	64.0	64.0					1																	186072761		2203	4299	6502	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186072761T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10731T>G	1.37:g.186072761T>G						HMCN1_ENST00000367492.2_Silent_p.T3577T	p.T3577T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			69	10960	+			3577			Ig-like C2-type 34.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.10731T>G	CCDS30956.1																																																																																				0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	49	0	0	0	1	0	7	49				
PDE4D	5144	broad.mit.edu	37	5	59064151	59064151	+	Intron	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064151T>G	ENST00000340635.6	-	1	631				PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.N62T|PDE4D_ENST00000507116.1_Missense_Mutation_p.N62T|PDE4D_ENST00000502484.2_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCTGGGGGAATTTCTCGGAGA	0.527																																						ENST00000507116.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(184-186)aAt>aCt		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						184.0	173.0	176.0					5																	59064151		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59064151T>G		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+124843A>C	5.37:g.59064151T>G						PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.N62T	p.N62T	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	320	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0			Pro-rich.		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.185A>C	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344454	0.82022	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;T	0.80909	-0.2;-1.43	5.36	5.36	0.76844	.	.	.	.	.	D	0.86756	0.6009	.	.	.	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.72982	0.969;0.979	D	0.83766	0.0217	8	0.18710	T	0.47	.	15.2009	0.73136	0.0:0.0:0.0:1.0	.	62;62	Q08499-12;Q08499-6	.;.	T	62	ENSP00000424852:N62T;ENSP00000425917:N62T	ENSP00000308485:N62T	N	-	2	0	PDE4D	59099908	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.493000	0.81493	2.246000	0.74042	0.533000	0.62120	AAT		0.527	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			52	66	0	0	0	1	0	52	66				
FXR1	8087	broad.mit.edu	37	3	180685891	180685891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180685891C>T	ENST00000357559.4	+	14	1635	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	FXR1_ENST00000480918.1_Silent_p.D404D|FXR1_ENST00000491062.1_Silent_p.D368D|FXR1_ENST00000305586.7_Silent_p.D332D|FXR1_ENST00000445140.2_Silent_p.D417D|FXR1_ENST00000468861.1_Silent_p.D332D	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	417					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGCGTAAAGACGAGCTGAGTG	0.463																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1249-1251)gaC>gaT		fragile X mental retardation, autosomal homolog 1							108.0	106.0	107.0					3																	180685891		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180685891C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1251C>T	3.37:g.180685891C>T						FXR1_ENST00000480918.1_Silent_p.D404D|FXR1_ENST00000305586.7_Silent_p.D332D|FXR1_ENST00000468861.1_Silent_p.D332D|FXR1_ENST00000491062.1_Silent_p.D368D|FXR1_ENST00000445140.2_Silent_p.D417D	p.D417D	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		14	1635	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		417					A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.1251C>T	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956404	0.18507	.	.	ENSG00000114416	ENST00000482125	.	.	.	5.51	-7.61	0.01299	.	.	.	.	.	T	0.60064	0.2240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65195	-0.6227	4	.	.	.	-29.1183	14.2796	0.66202	0.0:0.1702:0.0807:0.7492	.	.	.	.	M	18	.	.	T	+	2	0	FXR1	182168585	0.000000	0.05858	0.694000	0.30210	0.994000	0.84299	-1.940000	0.01543	-1.575000	0.01655	-0.423000	0.05987	ACG		0.463	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			31	40	0	0	0	1	0	31	40				
XRN2	22803	broad.mit.edu	37	20	21367594	21367594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21367594G>A	ENST00000377191.3	+	29	2832	c.2737G>A	c.(2737-2739)Gct>Act	p.A913T	XRN2_ENST00000430571.2_Missense_Mutation_p.A837T|XRN2_ENST00000539513.1_Missense_Mutation_p.A859T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	913					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAGATGCTAGCTGGGCCTGG	0.512																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2737-2739)Gct>Act		5'-3' exoribonuclease 2							95.0	88.0	91.0					20																	21367594		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21367594G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2737G>A	20.37:g.21367594G>A	ENSP00000366396:p.Ala913Thr					XRN2_ENST00000539513.1_Missense_Mutation_p.A859T|XRN2_ENST00000430571.2_Missense_Mutation_p.A837T	p.A913T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			29	2832	+			913					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2737G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	8.623	0.891942	0.17613	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.30182	1.54;1.54;1.54	5.95	4.95	0.65309	.	0.265115	0.35349	N	0.003267	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.14578	0.011	T	0.11891	-1.0569	10	0.12766	T	0.61	-3.6041	13.9948	0.64390	0.0:0.0:0.849:0.151	.	913	Q9H0D6	XRN2_HUMAN	T	913;837;859	ENSP00000366396:A913T;ENSP00000413548:A837T;ENSP00000441113:A859T	ENSP00000366396:A913T	A	+	1	0	XRN2	21315594	0.778000	0.28640	0.173000	0.22940	0.189000	0.23516	3.460000	0.53028	2.824000	0.97209	0.655000	0.94253	GCT		0.512	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		4	67	0	0	0	1	0	4	67				
VPS37C	55048	broad.mit.edu	37	11	60906281	60906281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60906281C>A	ENST00000301765.5	-	2	253	c.21G>T	c.(19-21)aaG>aaT	p.K7N		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	7					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCTGCAGGGTCTTATCCTTCA	0.572																																						ENST00000301765.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(19-21)aaG>aaT		vacuolar protein sorting 37 homolog C (S. cerevisiae)							117.0	103.0	108.0					11																	60906281		2203	4299	6502	SO:0001583	missense	55048				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr11:60906281C>A	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.21G>T	11.37:g.60906281C>A	ENSP00000301765:p.Lys7Asn						p.K7N	NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN			2	253	-			7					Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	c.21G>T	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310099	0.60414	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.78246	-1.16;-1.16	5.8	3.94	0.45596	Modifier of rudimentary, Modr (1);	0.131821	0.52532	D	0.000066	T	0.74951	0.3784	L	0.34521	1.04	0.30865	N	0.733083	D;P	0.60575	0.988;0.954	P;P	0.57057	0.711;0.812	T	0.74346	-0.3695	10	0.56958	D	0.05	-41.6481	6.3229	0.21227	0.1499:0.6946:0.0:0.1555	.	7;7	B4DYD9;A5D8V6	.;VP37C_HUMAN	N	7	ENSP00000301765:K7N;ENSP00000446013:K7N	ENSP00000301765:K7N	K	-	3	2	VPS37C	60662857	0.997000	0.39634	1.000000	0.80357	0.591000	0.36615	0.719000	0.25881	1.451000	0.47736	0.655000	0.94253	AAG		0.572	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		4	83	1	0	0.000602214	1	0.000649039	4	83				
PCDHGA1	56114	broad.mit.edu	37	5	140712311	140712311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140712311C>T	ENST00000517417.1	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S687L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	687					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.687																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2059-2061)tCg>tTg									71.0	84.0	80.0					5																	140712311		2203	4296	6499	SO:0001583	missense	0							g.chr5:140712311C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2060C>T	5.37:g.140712311C>T	ENSP00000431083:p.Ser687Leu					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S687L	p.S687L	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2060	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2060C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730258	0.48939	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51817	0.7;0.69	3.87	3.87	0.44632	.	0.000000	0.43110	D	0.000615	T	0.49389	0.1554	M	0.81942	2.565	0.09310	N	1	P;P	0.35575	0.502;0.51	B;B	0.32022	0.139;0.117	T	0.55860	-0.8074	10	0.62326	D	0.03	.	14.1628	0.65457	0.0:1.0:0.0:0.0	.	687;687	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	L	687	ENSP00000431083:S687L;ENSP00000367345:S687L	ENSP00000367345:S687L	S	+	2	0	PCDHGA1	140692495	0.002000	0.14202	0.009000	0.14445	0.006000	0.05464	0.927000	0.28818	2.162000	0.67917	0.585000	0.79938	TCG		0.687	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		16	37	0	0	0	1	0	16	37				
POU3F4	5456	broad.mit.edu	37	X	82763427	82763427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	32					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						AGTCCTTTCCGCAACCCTCAG	0.597																																						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.(94-96)cGc>cAc		POU class 3 homeobox 4							53.0	40.0	44.0					X																	82763427		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763427G>A	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.95G>A	X.37:g.82763427G>A	ENSP00000362296:p.Arg32His					RP3-326L13.2_ENST00000607095.1_RNA	p.R32H	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	159	+			32					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.95G>A	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872459	0.51695	.	.	ENSG00000196767	ENST00000373200	D	0.89050	-2.46	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	M	0.72353	2.195	0.54753	D	0.999989	P	0.48230	0.907	B	0.34242	0.178	D	0.89209	0.3563	10	0.87932	D	0	.	15.2276	0.73361	0.0:0.0:1.0:0.0	.	32	P49335	PO3F4_HUMAN	H	32	ENSP00000362296:R32H	ENSP00000362296:R32H	R	+	2	0	POU3F4	82650083	1.000000	0.71417	0.982000	0.44146	0.177000	0.22998	6.523000	0.73787	2.187000	0.69744	0.597000	0.82753	CGC		0.597	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		6	15	0	0	0	1	0	6	15				
ADAMTS3	9508	broad.mit.edu	37	4	73149302	73149302	+	Silent	SNP	G	G	A	rs113342288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73149302G>A	ENST00000286657.4	-	22	3205	c.3169C>T	c.(3169-3171)Ctg>Ttg	p.L1057L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1057					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGGTGGCAGGGTGCTACTG	0.463																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3169-3171)Ctg>Ttg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							135.0	131.0	132.0					4																	73149302		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73149302G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3169C>T	4.37:g.73149302G>A							p.L1057L	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3205	-			1057					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.3169C>T	CCDS3553.1																																																																																				0.463	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			7	116	0	0	0	1	0	7	116				
ING1	3621	broad.mit.edu	37	13	111366570	111366570	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111366570C>T	ENST00000375774.3	+	0	0				ING1_ENST00000333219.7_Missense_Mutation_p.S25F|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCATCGAGTCCCTGCCTTTC	0.622																																						ENST00000333219.7																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(73-75)tCc>tTc		inhibitor of growth family, member 1							81.0	64.0	70.0					13																	111366570		2203	4300	6503	SO:0001631	upstream_gene_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111366570C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346		13.37:g.111366570C>T	Exception_encountered					ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	p.S25F	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	946	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		0					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.74C>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249304	0.39797	.	.	ENSG00000153487	ENST00000333219	.	.	.	3.29	2.41	0.29592	.	.	.	.	.	T	0.74943	0.3783	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.75178	-0.3409	8	0.72032	D	0.01	.	12.0521	0.53513	0.0:0.8238:0.1762:0.0	.	25	Q5T9H0	.	F	25	.	ENSP00000328436:S25F	S	+	2	0	ING1	110164571	1.000000	0.71417	0.975000	0.42487	0.179000	0.23085	4.911000	0.63328	0.339000	0.23719	-0.305000	0.09177	TCC		0.622	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		4	10	0	0	0	1	0	4	10				
DCUN1D4	23142	broad.mit.edu	37	4	52729856	52729856	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52729856C>T	ENST00000334635.5	+	3	297	c.117C>T	c.(115-117)ggC>ggT	p.G39G	DCUN1D4_ENST00000381441.3_Silent_p.G39G|DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Silent_p.G83G	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	39						nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AAGACATTGGCCAAGACGATC	0.323																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(115-117)ggC>ggT		DCN1, defective in cullin neddylation 1, domain containing 4							106.0	101.0	103.0					4																	52729856		2203	4299	6502	SO:0001819	synonymous_variant	23142							g.chr4:52729856C>T	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.117C>T	4.37:g.52729856C>T						DCUN1D4_ENST00000381441.3_Silent_p.G39G|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000451288.2_Silent_p.G83G	p.G39G	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		3	297	+			39					B4DH25|Q7Z3F3|Q7Z6B8	Silent	SNP	ENST00000334635.5	37	c.117C>T	CCDS33982.1																																																																																				0.323	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		19	35	0	0	0	1	0	19	35				
IGSF10	285313	broad.mit.edu	37	3	151165712	151165712	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165712G>T	ENST00000282466.3	-	4	2056	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	686					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.P686L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGCAATAGGATTGGACTC	0.463																																						ENST00000282466.3																			1	Substitution - Missense(1)	p.P686L(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2056-2058)cCt>cAt		immunoglobulin superfamily, member 10							83.0	83.0	83.0					3																	151165712		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165712G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2057C>A	3.37:g.151165712G>T	ENSP00000282466:p.Pro686His						p.P686H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2056	-			686					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2057C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605955	0.46527	.	.	ENSG00000152580	ENST00000282466	T	0.70045	-0.45	5.26	3.45	0.39498	.	0.698032	0.12300	N	0.481240	T	0.58793	0.2147	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.48019	-0.9071	10	0.52906	T	0.07	.	7.0248	0.24934	0.2006:0.0:0.7994:0.0	.	686	Q6WRI0	IGS10_HUMAN	H	686	ENSP00000282466:P686H	ENSP00000282466:P686H	P	-	2	0	IGSF10	152648402	0.157000	0.22836	0.003000	0.11579	0.036000	0.12997	2.802000	0.47916	1.216000	0.43427	0.591000	0.81541	CCT		0.463	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		22	32	1	0	1.96292e-10	1	2.41709e-10	22	32				
LHX4	89884	broad.mit.edu	37	1	180217458	180217458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180217458G>A	ENST00000263726.2	+	2	359	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	39	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCACATCCTGGACAAGTTCAT	0.597																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(115-117)Gac>Aac		LIM homeobox 4							68.0	58.0	61.0					1																	180217458		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180217458G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.115G>A	1.37:g.180217458G>A	ENSP00000263726:p.Asp39Asn						p.D39N	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			2	359	+			39			LIM zinc-binding 1.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.115G>A	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990946	0.54041	.	.	ENSG00000121454	ENST00000263726	D	0.87966	-2.32	5.01	5.01	0.66863	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94253	0.7495	10	0.87932	D	0	.	17.1084	0.86669	0.0:0.0:1.0:0.0	.	39	Q969G2	LHX4_HUMAN	N	39	ENSP00000263726:D39N	ENSP00000263726:D39N	D	+	1	0	LHX4	178484081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.665000	0.98609	2.329000	0.79093	0.655000	0.94253	GAC		0.597	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		16	19	0	0	0	1	0	16	19				
ARID2	196528	broad.mit.edu	37	12	46246095	46246095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246095G>T	ENST00000334344.6	+	15	4361	c.4189G>T	c.(4189-4191)Ggg>Tgg	p.G1397W	ARID2_ENST00000422737.1_Missense_Mutation_p.G1248W|ARID2_ENST00000457135.1_Missense_Mutation_p.G5W|ARID2_ENST00000444670.1_Missense_Mutation_p.G1007W|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1397					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAACCACAAGGGACTTTAGA	0.368			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4189-4191)Ggg>Tgg		AT rich interactive domain 2 (ARID, RFX-like)							70.0	68.0	69.0					12																	46246095		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246095G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4189G>T	12.37:g.46246095G>T	ENSP00000335044:p.Gly1397Trp					ARID2_ENST00000444670.1_Missense_Mutation_p.G1007W|ARID2_ENST00000457135.1_Missense_Mutation_p.G5W|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1248W	p.G1397W	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4361	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1397					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4189G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844894	0.51164	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.33865	1.39	6.07	6.07	0.98685	.	0.091153	0.85682	D	0.000000	T	0.51143	0.1657	L	0.27053	0.805	0.48395	D	0.999645	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.79784	0.971;0.993;0.936	T	0.50048	-0.8873	10	0.66056	D	0.02	-6.5903	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1397;1007;1397	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	W	1397;514;514;1248;1007;5	ENSP00000335044:G1397W	ENSP00000335044:G1397W	G	+	1	0	ARID2	44532362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.380000	0.66202	2.884000	0.98904	0.655000	0.94253	GGG		0.368	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		25	45	1	0	3.28513e-13	1	4.1605e-13	25	45				
IL10RB	3588	broad.mit.edu	37	21	34660531	34660531	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34660531T>G	ENST00000290200.2	+	6	877	c.769T>G	c.(769-771)Tcc>Gcc	p.S257A		NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	257					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTACGCCTTCTCCCCTAGGAA	0.512																																					Melanoma(67;315 1275 21667 21943 44564)	ENST00000290200.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(769-771)Tcc>Gcc		interleukin 10 receptor, beta							145.0	111.0	122.0					21																	34660531		2203	4300	6503	SO:0001583	missense	3588							g.chr21:34660531T>G	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.769T>G	21.37:g.34660531T>G	ENSP00000290200:p.Ser257Ala						p.S257A	NM_000628.4	NP_000619.3					6	877	+								Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.769T>G	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	T	1.596	-0.527711	0.04112	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.38560	1.13	5.81	-2.87	0.05700	.	0.928991	0.09177	N	0.837992	T	0.31857	0.0810	L	0.57536	1.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32561	-0.9902	10	0.16896	T	0.51	-2.9385	6.2827	0.21017	0.0:0.2533:0.4068:0.3399	.	259;257	Q6ZVU9;Q08334	.;I10R2_HUMAN	A	257	ENSP00000290200:S257A	ENSP00000290200:S257A	S	+	1	0	IL10RB	33582401	0.258000	0.24033	0.003000	0.11579	0.007000	0.05969	0.758000	0.26447	-0.762000	0.04664	-0.290000	0.09829	TCC		0.512	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			32	48	0	0	0	1	0	32	48				
ZNF638	27332	broad.mit.edu	37	2	71660295	71660295	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71660295A>C	ENST00000409544.1	+	27	6383	c.5753A>C	c.(5752-5754)gAa>gCa	p.E1918A	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Splice_Site_p.E1918A|ZNF638_ENST00000409407.1_Splice_Site_p.E858A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1918					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATCCTCTAGAATTAGACTTT	0.363																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.e27-1		zinc finger protein 638							173.0	181.0	178.0					2																	71660295		2202	4300	6502	SO:0001630	splice_region_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71660295A>C	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5753-1A>C	2.37:g.71660295A>C						ZNF638_ENST00000409407.1_Splice_Site_p.E858_splice|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Splice_Site_p.E1918_splice	p.E1918_splice	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			27	6383	+			1918					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Splice_Site	SNP	ENST00000409544.1	37	c.5752_splice	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952370	0.53293	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.31247	1.5;1.5;1.9	6.16	5.02	0.67125	.	0.459125	0.21918	N	0.067202	T	0.13030	0.0316	N	0.08118	0	0.80722	D	1	B	0.27791	0.189	B	0.21360	0.034	T	0.16129	-1.0413	9	.	.	.	.	6.9156	0.24357	0.8412:0.0:0.1588:0.0	.	1918	Q14966	ZN638_HUMAN	A	1918;1918;858	ENSP00000264447:E1918A;ENSP00000386433:E1918A;ENSP00000386813:E858A	.	E	+	2	0	ZNF638	71513803	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.327000	0.33746	2.367000	0.80283	0.528000	0.53228	GAA		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	Missense_Mutation	5	172	0	0	0	1	0	5	172				
ALX3	257	broad.mit.edu	37	1	110607237	110607237	+	Missense_Mutation	SNP	C	C	T	rs199983753	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110607237C>T	ENST00000369792.4	-	2	653	c.566G>A	c.(565-567)cGc>cAc	p.R189H	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	189					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGTCTGTGCGCAGGGCCAG	0.592													C|||	5	0.000998403	0.0	0.0	5008	,	,		19447	0.0		0.001	False		,,,				2504	0.0041					ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(565-567)cGc>cAc		ALX homeobox 3		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	52.0	53.0		566	4.3	1.0	1		53	0,8600		0,0,4300	no	missense	ALX3	NM_006492.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	189/344	110607237	1,13005	2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607237C>T	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.566G>A	1.37:g.110607237C>T	ENSP00000358807:p.Arg189His						p.R189H	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	653	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	189					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.566G>A	CCDS819.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.7	4.563375	0.86335	2.27E-4	0.0	ENSG00000156150	ENST00000369792	D	0.96334	-3.98	4.32	4.32	0.51571	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.071560	0.49305	D	0.000146	D	0.97776	0.9270	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98455	1.0593	10	0.66056	D	0.02	.	14.6622	0.68879	0.0:1.0:0.0:0.0	.	189	O95076	ALX3_HUMAN	H	189	ENSP00000358807:R189H	ENSP00000358807:R189H	R	-	2	0	ALX3	110408760	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.048000	0.71046	2.112000	0.64535	0.462000	0.41574	CGC		0.592	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		8	33	0	0	0	1	0	8	33				
PIGS	94005	broad.mit.edu	37	17	26887149	26887149	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26887149T>C	ENST00000308360.7	-	7	1112	c.737A>G	c.(736-738)gAc>gGc	p.D246G	PIGS_ENST00000395346.2_Missense_Mutation_p.D238G|PIGS_ENST00000543734.1_Missense_Mutation_p.D185G|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	246					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCCTCAATGTCCCAGTAGAC	0.552																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(736-738)gAc>gGc		phosphatidylinositol glycan anchor biosynthesis, class S							85.0	76.0	79.0					17																	26887149		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26887149T>C		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.737A>G	17.37:g.26887149T>C	ENSP00000309430:p.Asp246Gly					PIGS_ENST00000543734.1_Missense_Mutation_p.D185G|PIGS_ENST00000395346.2_Missense_Mutation_p.D238G|PIGS_ENST00000465444.1_5'UTR	p.D246G	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			7	1112	-	Lung NSC(42;0.00431)		246					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.737A>G	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215015	0.79352	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.61980	0.06;0.06;0.06	5.84	4.7	0.59300	.	0.084898	0.85682	D	0.000000	T	0.77705	0.4170	M	0.83118	2.625	0.58432	D	0.999998	D;D	0.58620	0.983;0.979	P;P	0.62649	0.905;0.846	T	0.81113	-0.1080	10	0.66056	D	0.02	-25.426	12.7366	0.57228	0.0:0.0:0.1369:0.8631	.	246;238	Q96S52;Q96S52-2	PIGS_HUMAN;.	G	238;246;185	ENSP00000378755:D238G;ENSP00000309430:D246G;ENSP00000438447:D185G	ENSP00000309430:D246G	D	-	2	0	PIGS	23911276	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.599000	0.61076	2.234000	0.73211	0.528000	0.53228	GAC		0.552	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		17	28	0	0	0	1	0	17	28				
SPICE1	152185	broad.mit.edu	37	3	113184616	113184616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113184616G>A	ENST00000295872.4	-	11	1430	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	391					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ACTTCTTTACGTAGCTGGATC	0.378																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1171-1173)Cgt>Tgt		spindle and centriole associated protein 1							139.0	127.0	132.0					3																	113184616		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113184616G>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1171C>T	3.37:g.113184616G>A	ENSP00000295872:p.Arg391Cys						p.R391C	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			11	1430	-			391					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1171C>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420490	0.83559	.	.	ENSG00000163611	ENST00000295872	T	0.36340	1.26	5.1	5.1	0.69264	.	0.304910	0.36338	N	0.002642	T	0.57272	0.2042	M	0.62723	1.935	0.45046	D	0.998062	D;D	0.89917	1.0;1.0	D;D	0.63703	0.917;0.917	T	0.59836	-0.7379	10	0.72032	D	0.01	-11.1069	18.7227	0.91702	0.0:0.0:1.0:0.0	.	287;391	B3KX77;Q8N0Z3	.;SPICE_HUMAN	C	391	ENSP00000295872:R391C	ENSP00000295872:R391C	R	-	1	0	SPICE1	114667306	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.518000	0.73764	2.639000	0.89480	0.650000	0.86243	CGT		0.378	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		20	40	0	0	0	1	0	20	40				
ALDH7A1	501	broad.mit.edu	37	5	125894979	125894979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125894979C>T	ENST00000409134.3	-	11	1180	c.961G>A	c.(961-963)Gct>Act	p.A321T	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.A321T|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.A348T	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	321					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCCACAGCAGCGAAGAGAGCT	0.478																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(961-963)Gct>Act		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						88.0	76.0	80.0					5																	125894979		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125894979C>T	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.961G>A	5.37:g.125894979C>T	ENSP00000387123:p.Ala321Thr					ALDH7A1_ENST00000447989.2_Missense_Mutation_p.A348T|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.A321T	p.A321T	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	11	1180	-		all_cancers(142;0.24)|Prostate(80;0.081)	321					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.961G>A	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843194	0.91197	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	D;D;D	0.91740	-2.9;-2.9;-2.9	5.55	5.55	0.83447	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68943	0.961;0.944	D	0.96124	0.9087	10	0.87932	D	0	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	348;321	E7EPT3;P49419	.;AL7A1_HUMAN	T	321;321;348;129	ENSP00000387123:A321T;ENSP00000448593:A321T;ENSP00000414132:A348T	ENSP00000387123:A321T	A	-	1	0	ALDH7A1	125922878	1.000000	0.71417	0.993000	0.49108	0.559000	0.35586	7.593000	0.82686	2.885000	0.99019	0.655000	0.94253	GCT		0.478	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		14	19	0	0	0	1	0	14	19				
UBLCP1	134510	broad.mit.edu	37	5	158696048	158696048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158696048G>A	ENST00000296786.6	+	2	451	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	42	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGAACGCCAAAAGTTA	0.363																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(124-126)cGc>cAc		ubiquitin-like domain containing CTD phosphatase 1							94.0	89.0	91.0					5																	158696048		2203	4300	6503	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696048G>A	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.125G>A	5.37:g.158696048G>A	ENSP00000296786:p.Arg42His						p.R42H	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	451	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	42			Ubiquitin-like.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.125G>A	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765232	0.90020	.	.	ENSG00000164332	ENST00000296786	T	0.74421	-0.84	6.02	6.02	0.97574	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.92604	3.325	0.80722	D	1	D	0.64830	0.994	P	0.45474	0.482	D	0.87335	0.2327	10	0.56958	D	0.05	-5.999	20.547	0.99278	0.0:0.0:1.0:0.0	.	42	Q8WVY7	UBCP1_HUMAN	H	42	ENSP00000296786:R42H	ENSP00000296786:R42H	R	+	2	0	UBLCP1	158628626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.850000	0.98022	0.650000	0.86243	CGC		0.363	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		29	55	0	0	0	1	0	29	55				
ERI3	79033	broad.mit.edu	37	1	44804807	44804807	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44804807C>T	ENST00000372257.2	-	3	580	c.399G>A	c.(397-399)gcG>gcA	p.A133A	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	133							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACACCATTGCCGCCATGGATG	0.547																																						ENST00000372257.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(397-399)gcG>gcA		ERI1 exoribonuclease family member 3							133.0	142.0	139.0					1																	44804807		2203	4300	6503	SO:0001819	synonymous_variant	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44804807C>T	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.399G>A	1.37:g.44804807C>T						ERI3_ENST00000537474.1_Intron|ERI3_ENST00000495828.1_5'UTR	p.A133A	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN			3	580	-			133					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	ENST00000372257.2	37	c.399G>A	CCDS30696.1																																																																																				0.547	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		17	191	0	0	0	1	0	17	191				
GPR61	83873	broad.mit.edu	37	1	110086836	110086836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086836C>T	ENST00000527748.1	+	2	1875	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	398						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGGTTTCCCGACCCCTACC	0.597																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(1192-1194)Cga>Tga		G protein-coupled receptor 61							35.0	39.0	37.0					1																	110086836		2203	4299	6502	SO:0001587	stop_gained	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086836C>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1192C>T	1.37:g.110086836C>T	ENSP00000432456:p.Arg398*						p.R398*	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1875	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	398					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Nonsense_Mutation	SNP	ENST00000527748.1	37	c.1192C>T	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	43	10.283205	0.99375	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	.	.	.	5.72	4.8	0.61643	.	0.249763	0.35124	N	0.003439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4317	14.8194	0.70059	0.1454:0.8545:0.0:0.0	.	.	.	.	X	398;526	.	ENSP00000286603:R526X	R	+	1	2	GPR61	109888359	0.499000	0.26083	1.000000	0.80357	0.948000	0.59901	2.469000	0.45110	1.387000	0.46486	0.655000	0.94253	CGA		0.597	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			13	30	0	0	0	1	0	13	30				
COL4A4	1286	broad.mit.edu	37	2	227954604	227954604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227954604C>T	ENST00000396625.3	-	21	1646	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	COL4A4_ENST00000329662.7_Missense_Mutation_p.R480K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	480	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTGGGCCTCTTCCTCCTGG	0.488																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1438-1440)aGa>aAa		collagen, type IV, alpha 4							118.0	108.0	111.0					2																	227954604		1866	4101	5967	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227954604C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1439G>A	2.37:g.227954604C>T	ENSP00000379866:p.Arg480Lys					COL4A4_ENST00000329662.7_Missense_Mutation_p.R480K	p.R480K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	21	1646	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	480			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1439G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153312	0.38021	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.89875	-2.58;-2.52	5.74	4.86	0.63082	.	.	.	.	.	T	0.77638	0.4160	N	0.20610	0.595	0.25853	N	0.983915	P	0.41929	0.765	B	0.38921	0.285	T	0.67719	-0.5598	9	0.05351	T	0.99	.	10.7072	0.45962	0.0:0.9126:0.0:0.0874	.	480	P53420	CO4A4_HUMAN	K	480	ENSP00000379866:R480K;ENSP00000328553:R480K	ENSP00000328553:R480K	R	-	2	0	COL4A4	227662848	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	1.499000	0.35671	1.436000	0.47453	-0.253000	0.11424	AGA		0.488	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		18	32	0	0	0	1	0	18	32				
MPO	4353	broad.mit.edu	37	17	56355248	56355248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56355248G>A	ENST00000225275.3	-	7	1320	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Silent_p.L414L	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	382					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TCATCGTGCAGGTTGTCAAAG	0.642																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1240-1242)Ctg>Ttg		myeloperoxidase	Cefdinir(DB00535)						70.0	69.0	69.0					17																	56355248		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355248G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1144C>T	17.37:g.56355248G>A						MPO_ENST00000225275.3_Silent_p.L382L|MPO_ENST00000578493.1_5'UTR	p.L414L			P05164	PERM_HUMAN			6	1416	-			382					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1240C>T	CCDS11604.1																																																																																				0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			16	35	0	0	0	1	0	16	35				
SLC34A2	10568	broad.mit.edu	37	4	25676131	25676131	+	Silent	SNP	C	C	T	rs200795814	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25676131C>T	ENST00000382051.3	+	12	1388	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	SLC34A2_ENST00000503434.1_Silent_p.I445I|SLC34A2_ENST00000504570.1_Silent_p.I445I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	446					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCCCAGGAATCGGCGTGATAA	0.567			T	ROS1	NSCLC								C|||	2	0.000399361	0.0	0.0014	5008	,	,		19118	0.0		0.0	False		,,,				2504	0.001					ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1336-1338)atC>atT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							134.0	115.0	122.0					4																	25676131		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25676131C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1338C>T	4.37:g.25676131C>T						SLC34A2_ENST00000503434.1_Silent_p.I445I|SLC34A2_ENST00000504570.1_Silent_p.I445I	p.I446I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			12	1388	+		Breast(46;0.0503)	446					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1338C>T	CCDS3435.1																																																																																				0.567	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		39	61	0	0	0	1	0	39	61				
NAA35	60560	broad.mit.edu	37	9	88576971	88576971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88576971C>T	ENST00000361671.5	+	6	525	c.392C>T	c.(391-393)aCg>aTg	p.T131M	NAA35_ENST00000376040.1_Missense_Mutation_p.T131M	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	131					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)		p.T131M(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAGTATTTACGTGCCTTTAC	0.363																																						ENST00000361671.5																			1	Substitution - Missense(1)	p.T131M(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(391-393)aCg>aTg		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							98.0	90.0	93.0					9																	88576971		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88576971C>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.392C>T	9.37:g.88576971C>T	ENSP00000354972:p.Thr131Met					NAA35_ENST00000376040.1_Missense_Mutation_p.T131M	p.T131M	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			6	525	+			131					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.392C>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219392	0.79464	.	.	ENSG00000135040	ENST00000361671;ENST00000416045;ENST00000376040	.	.	.	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.87145	0.2205	9	0.87932	D	0	-6.9057	17.11	0.86673	0.0:0.8732:0.1268:0.0	.	131;131	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	M	131	.	ENSP00000354972:T131M	T	+	2	0	NAA35	87766791	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.347000	0.79356	1.499000	0.48617	-0.283000	0.09986	ACG		0.363	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		16	44	0	0	0	1	0	16	44				
THBS2	7058	broad.mit.edu	37	6	169641932	169641932	+	Silent	SNP	C	C	T	rs145867791		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169641932C>T	ENST00000366787.3	-	6	1065	c.816G>A	c.(814-816)gaG>gaA	p.E272E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	272					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTTCCCAGCTCCTCGCACG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17834	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(814-816)gaG>gaA		thrombospondin 2		C		2,4404	4.2+/-10.8	0,2,2201	74.0	68.0	70.0		816	4.8	1.0	6	dbSNP_134	70	0,8598		0,0,4299	no	coding-synonymous	THBS2	NM_003247.2		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		272/1173	169641932	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169641932C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.816G>A	6.37:g.169641932C>T							p.E272E	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	6	1065	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	272					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.816G>A	CCDS34574.1																																																																																				0.657	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		34	34	0	0	0	1	0	34	34				
CNTROB	116840	broad.mit.edu	37	17	7842843	7842843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7842843C>T	ENST00000563694.1	+	8	1865	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	CNTROB_ENST00000380255.3_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000380262.3_Nonsense_Mutation_p.Q314*	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	314					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGGAAAGGCAAGCTCTGAC	0.577																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(940-942)Caa>Taa		centrobin, centrosomal BRCA2 interacting protein							103.0	99.0	100.0					17																	7842843		2203	4300	6503	SO:0001587	stop_gained	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842843C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.940C>T	17.37:g.7842843C>T	ENSP00000456335:p.Gln314*					CNTROB_ENST00000563694.1_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q314*	p.Q314*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1865	+		Prostate(122;0.173)	314					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	ENST00000563694.1	37	c.940C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	41	8.839295	0.98972	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	5.36	4.33	0.51752	.	0.000000	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-12.2245	8.5476	0.33430	0.1523:0.5756:0.2721:0.0	.	.	.	.	X	314	.	ENSP00000369605:Q314X	Q	+	1	0	CNTROB	7783568	0.989000	0.36119	1.000000	0.80357	0.107000	0.19398	1.586000	0.36611	2.522000	0.85027	0.313000	0.20887	CAA		0.577	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		41	116	0	0	0	1	0	41	116				
NDUFA7	4701	broad.mit.edu	37	19	8376449	8376449	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8376449C>T	ENST00000301457.2	-	4	319	c.282G>A	c.(280-282)gcG>gcA	p.A94A	NDUFA7_ENST00000598884.1_Silent_p.A94A	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	94					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.A94A(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						CTGGAGTCACCGCCTTCTTCT	0.572																																						ENST00000301457.2																			1	Substitution - coding silent(1)	p.A94A(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(280-282)gcG>gcA		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						76.0	82.0	80.0					19																	8376449		2031	4184	6215	SO:0001819	synonymous_variant	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8376449C>T	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.282G>A	19.37:g.8376449C>T						NDUFA7_ENST00000598884.1_Silent_p.A94A	p.A94A	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			4	319	-			94						Silent	SNP	ENST00000301457.2	37	c.282G>A	CCDS42492.1																																																																																				0.572	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		5	94	0	0	0	1	0	5	94				
SPEN	23013	broad.mit.edu	37	1	16245447	16245447	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16245447A>T	ENST00000375759.3	+	7	1626	c.1422A>T	c.(1420-1422)ggA>ggT	p.G474G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	474	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGTAAATGGAGTTCCTCAGT	0.353																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(1420-1422)ggA>ggT		spen family transcriptional repressor							119.0	118.0	118.0					1																	16245447		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16245447A>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1422A>T	1.37:g.16245447A>T							p.G474G	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	7	1626	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	474			RRM 3.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.1422A>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262355	0.23051	.	.	ENSG00000065526	ENST00000442985	.	.	.	5.85	2.13	0.27403	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	-7.7235	0.4943	0.00569	0.4095:0.1207:0.2122:0.2576	.	.	.	.	V	214	.	.	E	+	2	0	SPEN	16118034	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	0.819000	0.27308	0.104000	0.17725	0.451000	0.29950	GAG		0.353	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		5	42	0	0	0	1	0	5	42				
PRICKLE1	144165	broad.mit.edu	37	12	42854319	42854319	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42854319C>A	ENST00000455697.1	-	8	2073	c.1788G>T	c.(1786-1788)aaG>aaT	p.K596N	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K596N|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K596N|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K596N|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K596N	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	596					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AACTTAGACTCTTTAAGGACT	0.458																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1786-1788)aaG>aaT		prickle homolog 1 (Drosophila)							135.0	128.0	130.0					12																	42854319		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854319C>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1788G>T	12.37:g.42854319C>A	ENSP00000401060:p.Lys596Asn					PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K596N|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K596N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K596N|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K596N|RP11-328C8.4_ENST00000547824.1_RNA	p.K596N	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2073	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		596					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1788G>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002110	0.35320	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.56	4.62	0.57501	.	0.201877	0.50627	D	0.000110	T	0.47838	0.1467	L	0.46157	1.445	0.45227	D	0.998232	B	0.02656	0.0	B	0.06405	0.002	T	0.48410	-0.9038	10	0.72032	D	0.01	4.353	7.2709	0.26256	0.0:0.7007:0.0:0.2993	.	596	Q96MT3	PRIC1_HUMAN	N	596	ENSP00000401060:K596N;ENSP00000398947:K596N;ENSP00000448359:K596N;ENSP00000345064:K596N;ENSP00000449819:K596N	ENSP00000345064:K596N	K	-	3	2	PRICKLE1	41140586	0.997000	0.39634	0.985000	0.45067	0.990000	0.78478	0.403000	0.20982	1.319000	0.45190	0.650000	0.86243	AAG		0.458	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			64	92	1	0	3.19559e-11	1	3.97421e-11	64	92				
GCAT	23464	broad.mit.edu	37	22	38211691	38211691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38211691G>A	ENST00000248924.6	+	7	892	c.836G>A	c.(835-837)gGg>gAg	p.G279E	GCAT_ENST00000323205.6_Missense_Mutation_p.G305E	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	279					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	ACAGGGCCTGGGCCCCTGGTG	0.657																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(913-915)gGg>gAg		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						55.0	65.0	62.0					22																	38211691		2203	4299	6502	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211691G>A	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.836G>A	22.37:g.38211691G>A	ENSP00000248924:p.Gly279Glu					GCAT_ENST00000248924.6_Missense_Mutation_p.G279E	p.G305E	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			7	977	+	Melanoma(58;0.045)		279					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.914G>A	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474177	0.26423	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.94497	-3.44;-3.44	4.72	-5.83	0.02325	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.701022	0.13944	N	0.352005	T	0.78375	0.4273	N	0.01076	-1.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.68542	-0.5381	10	0.56958	D	0.05	-0.8831	7.8825	0.29631	0.4819:0.38:0.1381:0.0	.	305;279	E2QC23;O75600	.;KBL_HUMAN	E	305;279	ENSP00000371110:G305E;ENSP00000248924:G279E	ENSP00000248924:G279E	G	+	2	0	GCAT	36541637	0.003000	0.15002	0.053000	0.19242	0.629000	0.37895	0.116000	0.15561	-1.224000	0.02581	-0.219000	0.12488	GGG		0.657	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		33	76	0	0	0	1	0	33	76				
BCAS3	54828	broad.mit.edu	37	17	59115389	59115389	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59115389G>A	ENST00000390652.5	+	19	1978	c.1947G>A	c.(1945-1947)tcG>tcA	p.S649S	RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000589222.1_Silent_p.S634S|BCAS3_ENST00000408905.3_Silent_p.S634S|BCAS3_ENST00000588462.1_Silent_p.S649S|BCAS3_ENST00000585744.1_Silent_p.S420S|BCAS3_ENST00000588874.1_Silent_p.S405S|BCAS3_ENST00000407086.3_Silent_p.S634S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGATGACATCGCCTCGAGCCA	0.438																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1900-1902)tcG>tcA		breast carcinoma amplified sequence 3							108.0	113.0	111.0					17																	59115389		2127	4227	6354	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59115389G>A	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1947G>A	17.37:g.59115389G>A						BCAS3_ENST00000588462.1_Silent_p.S649S|BCAS3_ENST00000588874.1_Silent_p.S405S|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Silent_p.S649S|BCAS3_ENST00000407086.3_Silent_p.S634S|BCAS3_ENST00000585744.1_Silent_p.S420S|BCAS3_ENST00000408905.3_Silent_p.S634S	p.S634S			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		18	1970	+			649						Silent	SNP	ENST00000390652.5	37	c.1902G>A	CCDS45749.1																																																																																				0.438	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		26	41	0	0	0	1	0	26	41				
NUDT12	83594	broad.mit.edu	37	5	102894605	102894605	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102894605A>G	ENST00000230792.2	-	3	867	c.771T>C	c.(769-771)ctT>ctC	p.L257L	NUDT12_ENST00000507423.1_Silent_p.L239L|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	257					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TCAATTGCAGAAGGGCTGGCA	0.378																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(769-771)ctT>ctC		nudix (nucleoside diphosphate linked moiety X)-type motif 12							49.0	47.0	47.0					5																	102894605		2202	4299	6501	SO:0001819	synonymous_variant	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102894605A>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.771T>C	5.37:g.102894605A>G						NUDT12_ENST00000507423.1_Silent_p.L239L	p.L257L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	3	867	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	257					B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	c.771T>C	CCDS4096.1																																																																																				0.378	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		8	29	0	0	0	1	0	8	29				
HMCN1	83872	broad.mit.edu	37	1	186045576	186045576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186045576G>T	ENST00000271588.4	+	54	8536	c.8307G>T	c.(8305-8307)caG>caT	p.Q2769H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2769H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2769	Ig-like C2-type 26.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGTTTTCAGAAACTCTGGG	0.383																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8305-8307)caG>caT		hemicentin 1							97.0	80.0	86.0					1																	186045576		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186045576G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8307G>T	1.37:g.186045576G>T	ENSP00000271588:p.Gln2769His					HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2769H	p.Q2769H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			54	8536	+			2769			Ig-like C2-type 26.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8307G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849155	0.51270	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65549	-0.14;-0.16	5.2	2.19	0.27852	Immunoglobulin-like (1);	0.385522	0.29783	N	0.011201	T	0.47838	0.1467	N	0.03115	-0.41	0.31522	N	0.66231	D	0.69078	0.997	D	0.77004	0.989	T	0.50684	-0.8799	10	0.12103	T	0.63	.	4.3994	0.11379	0.3246:0.306:0.3693:0.0	.	2769	Q96RW7	HMCN1_HUMAN	H	2769	ENSP00000271588:Q2769H;ENSP00000356462:Q2769H	ENSP00000271588:Q2769H	Q	+	3	2	HMCN1	184312199	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.541000	0.36126	0.231000	0.21079	-0.136000	0.14681	CAG		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	28	1	0	2.80697e-09	1	3.39963e-09	11	28				
APOBR	55911	broad.mit.edu	37	16	28507307	28507307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28507307C>T	ENST00000431282.1	+	2	955	c.945C>T	c.(943-945)ggC>ggT	p.G315G	CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Silent_p.G315G|APOBR_ENST00000564831.1_Silent_p.G315G			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	315	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGCCTCAGGCGGGGAGGAGG	0.672																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(943-945)ggC>ggT		apolipoprotein B receptor							18.0	19.0	19.0					16																	28507307		1875	4079	5954	SO:0001819	synonymous_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507307C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.945C>T	16.37:g.28507307C>T						APOBR_ENST00000328423.5_Silent_p.G315G|APOBR_ENST00000431282.1_Silent_p.G315G	p.G315G	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	978	+			315			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37	c.945C>T																																																																																					0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		16	10	0	0	0	1	0	16	10				
VCAN	1462	broad.mit.edu	37	5	82815201	82815201	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82815201T>C	ENST00000265077.3	+	7	1641	c.1076T>C	c.(1075-1077)cTc>cCc	p.L359P	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.L359P|VCAN_ENST00000512590.2_Missense_Mutation_p.L311P|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	359	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTGAGTATCCTCGCAGAAACT	0.368																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1075-1077)cTc>cCc		versican							108.0	110.0	109.0					5																	82815201		2202	4300	6502	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815201T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1076T>C	5.37:g.82815201T>C	ENSP00000265077:p.Leu359Pro					VCAN_ENST00000512590.2_Missense_Mutation_p.L311P|VCAN_ENST00000342785.4_Missense_Mutation_p.L359P|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	p.L359P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1641	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	359			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1076T>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	9.337	1.062013	0.19987	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86097	-1.96;-2.05;-2.07	5.61	4.48	0.54585	.	0.248776	0.28700	N	0.014429	T	0.77226	0.4099	L	0.43923	1.385	0.51767	D	0.999939	B;B	0.19817	0.039;0.023	B;B	0.22880	0.042;0.012	T	0.70687	-0.4803	10	0.27082	T	0.32	.	7.0555	0.25097	0.0:0.1335:0.0:0.8665	.	359;359	P13611-3;P13611	.;CSPG2_HUMAN	P	359;359;311	ENSP00000265077:L359P;ENSP00000342768:L359P;ENSP00000425959:L311P	ENSP00000265077:L359P	L	+	2	0	VCAN	82850957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.652000	0.37313	2.125000	0.65367	0.533000	0.62120	CTC		0.368	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	146	0	0	0	1	0	4	146				
ZDHHC22	283576	broad.mit.edu	37	14	77605800	77605800	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77605800G>A	ENST00000319374.4	-	2	484	c.282C>T	c.(280-282)acC>acT	p.T94T	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	94					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GGCAGAAGTGGGTGCTAGGTG	0.622																																						ENST00000319374.4																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(280-282)acC>acT		zinc finger, DHHC-type containing 22							29.0	33.0	31.0					14																	77605800		2140	4226	6366	SO:0001819	synonymous_variant	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77605800G>A	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.282C>T	14.37:g.77605800G>A						RP11-463C8.4_ENST00000557752.1_Intron	p.T94T	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	484	-			94					A6NH02|B7Z2L5|Q149P4	Silent	SNP	ENST00000319374.4	37	c.282C>T	CCDS45140.1																																																																																				0.622	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		4	4	0	0	0	1	0	4	4				
TF	7018	broad.mit.edu	37	3	133467331	133467331	+	Missense_Mutation	SNP	G	G	A	rs146477698		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133467331G>A	ENST00000402696.3	+	2	604	c.119G>A	c.(118-120)aGt>aAt	p.S40N	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	40	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AAGTGCCAGAGTTTCCGCGAC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21044	0.0		0.0	False		,,,				2504	0.0					ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(118-120)aGt>aAt		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	G	ASN/SER	0,4406		0,0,2203	221.0	180.0	194.0		119	-1.2	0.0	3	dbSNP_134	194	2,8598	2.2+/-6.3	0,2,4298	no	missense	TF	NM_001063.3	46	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	40/699	133467331	2,13004	2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133467331G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.119G>A	3.37:g.133467331G>A	ENSP00000385834:p.Ser40Asn					TF_ENST00000264998.3_Intron|TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR	p.S40N	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			2	604	+			40			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.119G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	8.370	0.835080	0.16820	0.0	2.33E-4	ENSG00000091513	ENST00000402696	T	0.32515	1.45	4.56	-1.23	0.09465	.	1.021480	0.07740	N	0.946762	T	0.20170	0.0485	L	0.35414	1.06	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.31251	-0.9950	10	0.22706	T	0.39	-1.9107	6.872	0.24125	0.1812:0.4001:0.4188:0.0	.	40	P02787	TRFE_HUMAN	N	40	ENSP00000385834:S40N	ENSP00000385834:S40N	S	+	2	0	TF	134950021	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.102000	0.15272	-0.102000	0.12197	0.563000	0.77884	AGT		0.542	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		14	28	0	0	0	1	0	14	28				
HK1	3098	broad.mit.edu	37	10	71129352	71129352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71129352C>T	ENST00000359426.6	+	7	951	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	HK1_ENST00000448642.2_Missense_Mutation_p.R318W|HK1_ENST00000360289.2_Missense_Mutation_p.R271W|HK1_ENST00000404387.2_Missense_Mutation_p.R287W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R282W	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	283	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAGATAGACCGGGGATCCCT	0.478																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(952-954)Cgg>Tgg		hexokinase 1							95.0	93.0	93.0					10																	71129352		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71129352C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.847C>T	10.37:g.71129352C>T	ENSP00000352398:p.Arg283Trp					HK1_ENST00000359426.6_Missense_Mutation_p.R283W|HK1_ENST00000404387.2_Missense_Mutation_p.R287W|HK1_ENST00000298649.3_Missense_Mutation_p.R282W|HK1_ENST00000360289.2_Missense_Mutation_p.R271W|HK1_ENST00000494253.1_3'UTR	p.R318W			P19367	HXK1_HUMAN			12	1341	+			283			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.952C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.442079	0.43326	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.34	3.42	0.39159	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97158	0.9071	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;P;P	0.66716	0.916;0.946;0.939;0.916;0.863;0.842	D	0.96814	0.9599	10	0.87932	D	0	-2.7779	13.1768	0.59633	0.411:0.589:0.0:0.0	.	283;283;282;318;287;271	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	W	271;318;287;282;282;283;283	ENSP00000353433:R271W;ENSP00000402103:R318W;ENSP00000384774:R287W;ENSP00000415949:R282W;ENSP00000298649:R282W;ENSP00000352398:R283W	ENSP00000298649:R282W	R	+	1	2	HK1	70799358	1.000000	0.71417	0.879000	0.34478	0.129000	0.20672	1.166000	0.31834	0.579000	0.29504	0.563000	0.77884	CGG		0.478	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		8	23	0	0	0	1	0	8	23				
USH2A	7399	broad.mit.edu	37	1	216166438	216166438	+	Silent	SNP	G	G	A	rs369511538		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216166438G>A	ENST00000307340.3	-	35	7115	c.6729C>T	c.(6727-6729)ggC>ggT	p.G2243G	USH2A_ENST00000366943.2_Silent_p.G2243G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2243	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G2243G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGGCACGCCTTCGGGTA	0.507										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366943.2																			1	Substitution - coding silent(1)	p.G2243G(1)	lung(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6727-6729)ggC>ggT		Usher syndrome 2A (autosomal recessive, mild)		G		1,4405	2.1+/-5.4	0,1,2202	201.0	187.0	192.0		6729	-11.8	0.0	1		192	0,8600		0,0,4300	no	coding-synonymous	USH2A	NM_206933.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2243/5203	216166438	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216166438G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6729C>T	1.37:g.216166438G>A		HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234	USH2A_ENST00000307340.3_Silent_p.G2243G	p.G2243G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7115	-			2243			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6729C>T	CCDS31025.1																																																																																				0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		41	162	0	0	0	1	0	41	162				
KRT5	3852	broad.mit.edu	37	12	52913879	52913879	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52913879G>T	ENST00000252242.4	-	1	592	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	68	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCCCCCCAGGTTGTAGAGG	0.647																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(202-204)Ctg>Atg		keratin 5							57.0	71.0	67.0					12																	52913879		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913879G>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.202C>A	12.37:g.52913879G>T	ENSP00000252242:p.Leu68Met						p.L68M	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	592	-			68			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.202C>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610882	0.46527	.	.	ENSG00000186081	ENST00000252242;ENST00000546577	D;T	0.85702	-2.02;1.41	5.93	-11.9	0.00025	.	0.885850	0.09448	N	0.800793	T	0.72724	0.3496	L	0.48362	1.52	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.58047	-0.7705	10	0.87932	D	0	.	7.2703	0.26252	0.2034:0.4915:0.229:0.0761	.	68	P13647	K2C5_HUMAN	M	68	ENSP00000252242:L68M;ENSP00000449651:L68M	ENSP00000252242:L68M	L	-	1	2	KRT5	51200146	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-0.770000	0.04705	-1.856000	0.01161	-0.181000	0.13052	CTG		0.647	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			18	38	1	0	1.45105e-14	1	1.85325e-14	18	38				
PIK3CG	5294	broad.mit.edu	37	7	106509841	106509841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106509841C>T	ENST00000359195.3	+	2	2145	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A612V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A612V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	612	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAATTGTTGGCCAGAAGGGAA	0.428																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1834-1836)gCc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							112.0	110.0	111.0					7																	106509841		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509841C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1835C>T	7.37:g.106509841C>T	ENSP00000352121:p.Ala612Val					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A612V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A612V	p.A612V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	2145	+			612					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1835C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935927	0.34189	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.64085	-0.08;-0.08;-0.08	5.54	5.54	0.83059	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.248859	0.27691	N	0.018255	T	0.57475	0.2056	L	0.41492	1.28	0.46774	D	0.999193	B	0.30179	0.271	B	0.35770	0.21	T	0.55186	-0.8180	10	0.36615	T	0.2	-16.3445	15.0354	0.71741	0.0:0.8584:0.1416:0.0	.	612	P48736	PK3CG_HUMAN	V	612	ENSP00000392258:A612V;ENSP00000419260:A612V;ENSP00000352121:A612V	ENSP00000352121:A612V	A	+	2	0	PIK3CG	106297077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.700000	0.54786	2.607000	0.88179	0.655000	0.94253	GCC		0.428	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			54	110	0	0	0	1	0	54	110				
TRAPPC11	60684	broad.mit.edu	37	4	184614139	184614139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184614139C>T	ENST00000334690.6	+	20	2278	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	TRAPPC11_ENST00000357207.4_Silent_p.G692G|TRAPPC11_ENST00000512476.1_Silent_p.G298G	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	692					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TTGCTCTGGGCAATGAGACGG	0.448																																						ENST00000334690.6																			0											c.(2074-2076)ggC>ggT		trafficking protein particle complex 11							112.0	108.0	109.0					4																	184614139		2203	4300	6503	SO:0001819	synonymous_variant	60684							g.chr4:184614139C>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2076C>T	4.37:g.184614139C>T						TRAPPC11_ENST00000357207.4_Silent_p.G692G|TRAPPC11_ENST00000512476.1_Silent_p.G298G	p.G692G	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			20	2278	+			692					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.2076C>T	CCDS34112.1																																																																																				0.448	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		29	60	0	0	0	1	0	29	60				
SLC43A1	8501	broad.mit.edu	37	11	57258700	57258700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57258700G>A	ENST00000278426.3	-	11	1545	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A397V|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGTCACCTGGCATCTCCGAG	0.552																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1189-1191)gCc>gTc		solute carrier family 43 (amino acid system L transporter), member 1							47.0	42.0	44.0					11																	57258700		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57258700G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1190C>T	11.37:g.57258700G>A	ENSP00000278426:p.Ala397Val					SLC43A1_ENST00000528450.1_Missense_Mutation_p.A397V	p.A397V	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			11	1545	-			397						Missense_Mutation	SNP	ENST00000278426.3	37	c.1190C>T	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669332	0.47677	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.23950	1.88;1.88	5.44	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);	0.742329	0.12873	N	0.432062	T	0.26955	0.0660	L	0.54323	1.7	0.30720	N	0.748328	B	0.32653	0.379	B	0.35182	0.197	T	0.09400	-1.0676	10	0.30854	T	0.27	.	11.3409	0.49533	0.0:0.1831:0.8169:0.0	.	397	O75387	LAT3_HUMAN	V	397	ENSP00000278426:A397V;ENSP00000435673:A397V	ENSP00000278426:A397V	A	-	2	0	SLC43A1	57015276	0.995000	0.38212	0.984000	0.44739	0.781000	0.44180	2.728000	0.47319	2.568000	0.86640	0.555000	0.69702	GCC		0.552	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		10	23	0	0	0	1	0	10	23				
TRIM16	10626	broad.mit.edu	37	17	15532344	15532344	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532344T>C	ENST00000578237.1	-	11	2135	c.1280A>G	c.(1279-1281)cAc>cGc	p.H427R	TRIM16_ENST00000579219.1_Missense_Mutation_p.T124A|TRIM16_ENST00000336708.7_Missense_Mutation_p.H427R|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.H427R|TRIM16_ENST00000416464.2_Missense_Mutation_p.H297R|TRIM16_ENST00000577886.1_Missense_Mutation_p.H211R			O95361	TRI16_HUMAN	tripartite motif containing 16	427	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ATAGTACCTGTGCAGGTACAG	0.597																																						ENST00000455584.2																			0											c.(1279-1281)cAc>cGc									35.0	32.0	33.0					17																	15532344		2203	4295	6498	SO:0001583	missense	0							g.chr17:15532344T>C	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1280A>G	17.37:g.15532344T>C	ENSP00000463188:p.His427Arg					TRIM16_ENST00000579219.1_Missense_Mutation_p.T124A|TRIM16_ENST00000416464.2_Missense_Mutation_p.H297R|TRIM16_ENST00000336708.7_Missense_Mutation_p.H427R|TRIM16_ENST00000578237.1_Missense_Mutation_p.H427R|TRIM16_ENST00000577886.1_Missense_Mutation_p.H211R	p.H427R							6	1323	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1280A>G	CCDS11171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.865|9.865	1.197386|1.197386	0.22037|0.22037	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708;ENST00000416464|ENST00000455584	T;T|.	0.60672|.	0.17;0.17|.	4.53|4.53	2.23|2.23	0.28157|0.28157	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);|.	0.467346|.	0.21591|.	N|.	0.072096|.	T|T	0.17023|0.17023	0.0409|0.0409	N|N	0.08118|0.08118	0|0	0.24893|0.24893	N|N	0.992155|0.992155	B;B;B|.	0.13145|.	0.007;0.007;0.002|.	B;B;B|.	0.14578|.	0.011;0.007;0.003|.	T|T	0.27331|0.27331	-1.0077|-1.0077	10|5	0.45353|.	T|.	0.12|.	.|.	6.7548|6.7548	0.23507|0.23507	0.0:0.2895:0.0:0.7105|0.0:0.2895:0.0:0.7105	.|.	297;427;441|.	B3KP96;O95361;Q59EB2|.	.;TRI16_HUMAN;.|.	R|A	427;297|442	ENSP00000338989:H427R;ENSP00000399918:H297R|.	ENSP00000338989:H427R|.	H|T	-|-	2|1	0|0	TRIM16|RP11-385D13.1	15473069|15473069	0.992000|0.992000	0.36948|0.36948	0.998000|0.998000	0.56505|0.56505	0.808000|0.808000	0.45660|0.45660	1.671000|1.671000	0.37513|0.37513	0.195000|0.195000	0.20347|0.20347	0.528000|0.528000	0.53228|0.53228	CAC|ACA		0.597	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		12	13	0	0	0	1	0	12	13				
NUP188	23511	broad.mit.edu	37	9	131760483	131760483	+	Silent	SNP	C	C	T	rs371952739		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131760483C>T	ENST00000372577.2	+	31	3426	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1135					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTTCTTGACGTGCTTGATG	0.443																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3403-3405)gaC>gaT		nucleoporin 188kDa		C		0,4406		0,0,2203	192.0	192.0	192.0		3405	-11.0	0.6	9		192	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUP188	NM_015354.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1135/1750	131760483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760483C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3405C>T	9.37:g.131760483C>T							p.D1135D	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			31	3426	+			1135					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.3405C>T	CCDS35156.1																																																																																				0.443	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			80	144	0	0	0	1	0	80	144				
CCKAR	886	broad.mit.edu	37	4	26483461	26483461	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26483461G>T	ENST00000295589.3	-	5	1280	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	362					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGACGCAGGAGGAGGTGTAGG	0.632																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1084-1086)tcC>tcA		cholecystokinin A receptor	Ceruletide(DB00403)						131.0	123.0	126.0					4																	26483461		2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483461G>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1086C>A	4.37:g.26483461G>T							p.S362S	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1280	-		Breast(46;0.0503)	362					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.1086C>A	CCDS3438.1																																																																																				0.632	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			35	67	1	0	2.42023e-17	1	3.13592e-17	35	67				
GRIK4	2900	broad.mit.edu	37	11	120776145	120776145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776145C>T	ENST00000527524.2	+	13	1706	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIK4_ENST00000438375.2_Silent_p.Y473Y	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	473					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ATGGCGTGTACGGCGTTCCCG	0.607																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1417-1419)taC>taT		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						137.0	134.0	135.0					11																	120776145		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776145C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1419C>T	11.37:g.120776145C>T						GRIK4_ENST00000438375.2_Silent_p.Y473Y	p.Y473Y			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1706	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	473					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1419C>T	CCDS8433.1																																																																																				0.607	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		40	113	0	0	0	1	0	40	113				
YY1AP1	55249	broad.mit.edu	37	1	155642405	155642405	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155642405A>C	ENST00000295566.4	-	7	750	c.727T>G	c.(727-729)Ttc>Gtc	p.F243V	YY1AP1_ENST00000535662.1_Missense_Mutation_p.F43V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.F315V|YY1AP1_ENST00000368340.5_Missense_Mutation_p.F315V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F166V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F177V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F177V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F166V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F315V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F177V|YY1AP1_ENST00000438245.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F166V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F166V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	243					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGTGTGCTGAAGTCTTCAATC	0.473																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(943-945)Ttc>Gtc		YY1 associated protein 1							57.0	56.0	56.0					1																	155642405		2202	4280	6482	SO:0001583	missense	55249							g.chr1:155642405A>C	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.727T>G	1.37:g.155642405A>C	ENSP00000295566:p.Phe243Val					YY1AP1_ENST00000368330.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000295566.4_Missense_Mutation_p.F243V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F177V|YY1AP1_ENST00000438245.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.F315V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F166V|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F315V|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F43V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F177V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F166V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F166V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F166V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F177V	p.F315V	NM_001198904.1	NP_001185833.1					6	1051	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.943T>G	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067159	0.55539	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.8;1.8;1.99;1.8;1.8;1.94;1.95;1.8;1.99;1.95;1.79;2.01	3.44	3.44	0.39384	.	0.127868	0.53938	D	0.000041	T	0.29355	0.0731	L	0.49126	1.545	0.36619	D	0.875637	D;B;D;D;P;D;P;P	0.89917	1.0;0.383;0.999;0.996;0.532;0.999;0.885;0.875	D;B;D;D;B;D;P;P	0.87578	0.998;0.219;0.991;0.986;0.264;0.991;0.699;0.749	T	0.03887	-1.0995	10	0.38643	T	0.18	.	10.5675	0.45181	1.0:0.0:0.0:0.0	.	177;243;315;177;315;243;177;315	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	V	166;177;166;177;166;315;243;177;166;177;315;43;315;177;166;177	ENSP00000352134:F166V;ENSP00000347686:F177V;ENSP00000311138:F166V;ENSP00000316079:F177V;ENSP00000355298:F166V;ENSP00000357324:F315V;ENSP00000295566:F243V;ENSP00000357314:F177V;ENSP00000385791:F166V;ENSP00000385390:F177V;ENSP00000357323:F315V;ENSP00000437926:F43V	ENSP00000295566:F243V	F	-	1	0	YY1AP1	153909029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.258000	0.58822	1.549000	0.49425	0.460000	0.39030	TTC		0.473	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		20	23	0	0	0	1	0	20	23				
TMEM60	85025	broad.mit.edu	37	7	77423538	77423538	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77423538G>A	ENST00000257663.3	-	2	529	c.153C>T	c.(151-153)gtC>gtT	p.V51V		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	51						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						CAATCAGCAGGACAAGAAGGA	0.418																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(151-153)gtC>gtT		transmembrane protein 60							85.0	85.0	85.0					7																	77423538		2203	4300	6503	SO:0001819	synonymous_variant	85025					integral to membrane		g.chr7:77423538G>A	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.153C>T	7.37:g.77423538G>A							p.V51V	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	529	-			51					A4D1C3|Q86UM0	Silent	SNP	ENST00000257663.3	37	c.153C>T	CCDS5593.1																																																																																				0.418	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		22	57	0	0	0	1	0	22	57				
ZNF701	55762	broad.mit.edu	37	19	53085781	53085781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53085781G>A	ENST00000540331.1	+	5	892	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	ZNF701_ENST00000391785.3_Missense_Mutation_p.E157K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E223K|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E157K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTTCACCCCGAAGGGAAAAT	0.413																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			1	Substitution - Missense(1)	p.E157K(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(667-669)Gaa>Aaa		zinc finger protein 701							83.0	83.0	83.0					19																	53085781		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085781G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.667G>A	19.37:g.53085781G>A	ENSP00000444339:p.Glu223Lys					CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.E157K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E223K	p.E223K	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	892	+			157					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.667G>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	5.326	0.245488	0.10077	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05319	3.46;3.51;3.51	1.81	0.708	0.18144	.	.	.	.	.	T	0.04048	0.0113	L	0.38953	1.18	0.09310	N	1	B;B	0.28082	0.2;0.052	B;B	0.27500	0.08;0.005	T	0.45234	-0.9275	9	0.08599	T	0.76	.	3.0424	0.06142	0.1935:0.2909:0.5156:0.0	.	223;157	F5GZM6;Q9NV72	.;ZN701_HUMAN	K	157;223;223	ENSP00000375662:E157K;ENSP00000301093:E223K;ENSP00000444339:E223K	ENSP00000301093:E223K	E	+	1	0	ZNF701	57777593	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.041000	0.13927	0.100000	0.17581	0.306000	0.20318	GAA		0.413	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		46	57	0	0	0	1	0	46	57				
NPTX2	4885	broad.mit.edu	37	7	98256624	98256624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98256624C>T	ENST00000265634.3	+	4	1201	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	346	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCATCAAGCCCGGGGGCGT	0.677																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1036-1038)Ccc>Tcc		neuronal pentraxin II							60.0	50.0	53.0					7																	98256624		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256624C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1036C>T	7.37:g.98256624C>T	ENSP00000265634:p.Pro346Ser						p.P346S	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1201	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		346			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.1036C>T	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501310	0.64298	.	.	ENSG00000106236	ENST00000265634	T	0.57436	0.4	5.39	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.047040	0.85682	N	0.000000	T	0.43433	0.1247	L	0.41632	1.29	0.80722	D	1	B	0.25441	0.126	B	0.23716	0.048	T	0.29366	-1.0014	10	0.30078	T	0.28	-12.5262	13.2827	0.60224	0.0:0.9239:0.0:0.0761	.	346	P47972	NPTX2_HUMAN	S	346	ENSP00000265634:P346S	ENSP00000265634:P346S	P	+	1	0	NPTX2	98094560	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	6.048000	0.71046	1.410000	0.46936	0.655000	0.94253	CCC		0.677	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		28	18	0	0	0	1	0	28	18				
KRTAP19-2	337969	broad.mit.edu	37	21	31859657	31859657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31859657C>T	ENST00000334055.3	-	1	98	c.11G>A	c.(10-12)gGc>gAc	p.G4D		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	4						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACAGCCGTAGCCATAGCACAT	0.567																																						ENST00000334055.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(10-12)gGc>gAc		keratin associated protein 19-2							154.0	149.0	151.0					21																	31859657		2203	4300	6503	SO:0001583	missense	337969					intermediate filament		g.chr21:31859657C>T	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.11G>A	21.37:g.31859657C>T	ENSP00000335660:p.Gly4Asp						p.G4D	NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN			1	98	-			4						Missense_Mutation	SNP	ENST00000334055.3	37	c.11G>A	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	7.023	0.559106	0.13436	.	.	ENSG00000186965	ENST00000334055	T	0.18502	2.21	4.52	4.52	0.55395	.	0.000000	0.45867	D	0.000331	T	0.39860	0.1094	.	.	.	0.21020	N	0.99981	D	0.89917	1.0	D	0.83275	0.996	T	0.12502	-1.0545	9	0.87932	D	0	.	12.9257	0.58258	0.0:1.0:0.0:0.0	.	4	Q3LHN2	KR192_HUMAN	D	4	ENSP00000335660:G4D	ENSP00000335660:G4D	G	-	2	0	KRTAP19-2	30781528	0.007000	0.16637	0.599000	0.28851	0.095000	0.18619	1.541000	0.36126	2.520000	0.84964	0.655000	0.94253	GGC		0.567	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			9	137	0	0	0	1	0	9	137				
GOLPH3	64083	broad.mit.edu	37	5	32126330	32126330	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32126330C>T	ENST00000265070.6	-	4	1200	c.885G>A	c.(883-885)gcG>gcA	p.A295A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	295					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.A295A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACTTGGTGAACGCCGCCACCA	0.478																																						ENST00000265070.6																			1	Substitution - coding silent(1)	p.A295A(1)	ovary(1)	kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(883-885)gcG>gcA		golgi phosphoprotein 3 (coat-protein)							106.0	106.0	106.0					5																	32126330		2203	4300	6503	SO:0001819	synonymous_variant	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126330C>T	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.885G>A	5.37:g.32126330C>T							p.A295A	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1200	-			295					Q9UIW5	Silent	SNP	ENST00000265070.6	37	c.885G>A	CCDS3896.1																																																																																				0.478	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		52	67	0	0	0	1	0	52	67				
BRWD1	54014	broad.mit.edu	37	21	40610438	40610438	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40610438T>C	ENST00000333229.2	-	22	2870	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	BRWD1_ENST00000380800.3_Missense_Mutation_p.D848G|BRWD1_ENST00000342449.3_Missense_Mutation_p.D848G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	848					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTTTTTCTGTCACTTCTCCA	0.383																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2542-2544)gAc>gGc		bromodomain and WD repeat domain containing 1							178.0	157.0	164.0					21																	40610438		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40610438T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2543A>G	21.37:g.40610438T>C	ENSP00000330753:p.Asp848Gly					BRWD1_ENST00000333229.2_Missense_Mutation_p.D848G|BRWD1_ENST00000380800.3_Missense_Mutation_p.D848G	p.D848G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			22	2621	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	848					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2543A>G	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.324354|4.324354	0.81580|0.81580	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.60548|.	0.18;0.23;0.3|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.319644|.	0.29515|.	N|.	0.011936|.	T|.	0.74191|.	0.3684|.	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	P;D;P|.	0.56287|.	0.455;0.975;0.939|.	B;P;P|.	0.57846|.	0.114;0.828;0.516|.	T|.	0.75703|.	-0.3225|.	10|.	0.51188|.	T|.	0.08|.	-13.7441|-13.7441	13.0581|13.0581	0.58992|0.58992	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	515;848;848|.	Q5R2U6;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	G|W	848|515	ENSP00000330753:D848G;ENSP00000344333:D848G;ENSP00000370178:D848G|.	ENSP00000330753:D848G|.	D|X	-|-	2|3	0|0	BRWD1|BRWD1	39532308|39532308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	4.250000|4.250000	0.58772|0.58772	2.079000|2.079000	0.62486|0.62486	0.482000|0.482000	0.46254|0.46254	GAC|TGA		0.383	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		29	39	0	0	0	1	0	29	39				
SLIT2	9353	broad.mit.edu	37	4	20619166	20619166	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20619166A>G	ENST00000504154.1	+	36	4493	c.4241A>G	c.(4240-4242)aAc>aGc	p.N1414S	SLIT2_ENST00000503837.1_Missense_Mutation_p.N1410S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1406S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1427S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1414					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATCTGTTTAACCCATGCCAG	0.552																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(4240-4242)aAc>aGc		slit homolog 2 (Drosophila)							113.0	95.0	101.0					4																	20619166		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619166A>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4241A>G	4.37:g.20619166A>G	ENSP00000422591:p.Asn1414Ser					SLIT2_ENST00000273739.5_Missense_Mutation_p.N1427S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1410S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1406S	p.N1414S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			36	4493	+			1414					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4241A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434523	0.25813	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80566	-1.38;-1.39;-1.31;-1.36	5.61	5.61	0.85477	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	L	0.35644	1.08	0.58432	D	0.999998	B;B	0.13145	0.007;0.007	B;B	0.17979	0.02;0.007	T	0.68164	-0.5481	10	0.30078	T	0.28	.	15.8209	0.78644	1.0:0.0:0.0:0.0	.	1406;1414	O94813-3;O94813	.;SLIT2_HUMAN	S	1406;1414;1427;1410;1410	ENSP00000427548:N1406S;ENSP00000422591:N1414S;ENSP00000273739:N1427S;ENSP00000422261:N1410S	ENSP00000273739:N1427S	N	+	2	0	SLIT2	20228264	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	5.090000	0.64498	2.136000	0.66102	0.455000	0.32223	AAC		0.552	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			16	12	0	0	0	1	0	16	12				
PTCD1	26024	broad.mit.edu	37	7	99032629	99032629	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99032629C>A	ENST00000292478.4	-	2	487	c.237G>T	c.(235-237)caG>caT	p.Q79H	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q128H|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000555673.1_Missense_Mutation_p.Q128H|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	79					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CGTCTTCTTCCTGCGTGGCCG	0.607																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(235-237)caG>caT		pentatricopeptide repeat domain 1							55.0	59.0	58.0					7																	99032629		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99032629C>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.237G>T	7.37:g.99032629C>A	ENSP00000292478:p.Gln79His					ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q128H|PTCD1_ENST00000555673.1_Missense_Mutation_p.Q128H|PTCD1_ENST00000485746.1_5'UTR	p.Q79H	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	487	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.237G>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130450	0.37630	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000413834	T;T;D;D;D;T	0.84730	-0.16;-0.15;-1.76;-1.76;-1.89;-0.15	5.84	4.06	0.47325	.	0.739881	0.12690	N	0.447298	D	0.85017	0.5601	M	0.72479	2.2	0.26949	N	0.966064	P;P	0.48503	0.911;0.855	B;B	0.44163	0.443;0.258	T	0.75227	-0.3392	10	0.44086	T	0.13	-5.1511	10.9328	0.47228	0.0:0.8554:0.0:0.1446	.	128;79	G3V325;O75127	.;PTCD1_HUMAN	H	79;128;79;79;79;128	ENSP00000292478:Q79H;ENSP00000450995:Q128H;ENSP00000390530:Q79H;ENSP00000408059:Q79H;ENSP00000401600:Q79H;ENSP00000400168:Q128H	ENSP00000400168:Q128H	Q	-	3	2	ATP5J2-PTCD1;PTCD1	98870565	0.101000	0.21875	0.130000	0.21974	0.085000	0.17905	0.454000	0.21827	0.831000	0.34780	0.563000	0.77884	CAG		0.607	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		8	82	1	0	1.12685e-05	1	1.27857e-05	8	82				
KIF13A	63971	broad.mit.edu	37	6	17771432	17771432	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17771432C>T	ENST00000259711.6	-	38	4599	c.4494G>A	c.(4492-4494)caG>caA	p.Q1498Q	KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1498					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTTATGTGCCTGAGGTGGAG	0.453																																						ENST00000259711.6																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4492-4494)caG>caA		kinesin family member 13A							119.0	117.0	118.0					6																	17771432		2078	4217	6295	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17771432C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4494G>A	6.37:g.17771432C>T						KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378826.2_Intron	p.Q1498Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		38	4599	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1498					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4494G>A	CCDS47381.1																																																																																				0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			5	10	0	0	0	1	0	5	10				
GPR98	84059	broad.mit.edu	37	5	90074889	90074889	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90074889A>C	ENST00000405460.2	+	64	13153	c.13057A>C	c.(13057-13059)Att>Ctt	p.I4353L	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4353	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTCTAACAATTACAAAGGT	0.423																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13057-13059)Att>Ctt		G protein-coupled receptor 98							31.0	30.0	30.0					5																	90074889		1831	4093	5924	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074889A>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13057A>C	5.37:g.90074889A>C	ENSP00000384582:p.Ile4353Leu						p.I4353L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	13153	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4353			Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13057A>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	9.743	1.165492	0.21538	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.12569	2.67	5.8	1.83	0.25207	Na-Ca exchanger/integrin-beta4 (2);	0.187549	0.56097	N	0.000038	T	0.04452	0.0122	N	0.04320	-0.23	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39251	-0.9623	10	0.02654	T	1	.	8.1529	0.31152	0.5472:0.3822:0.0706:0.0	.	4353	Q8WXG9	GPR98_HUMAN	L	4353	ENSP00000384582:I4353L	ENSP00000296619:I4353L	I	+	1	0	GPR98	90110645	0.967000	0.33354	0.130000	0.21974	0.679000	0.39708	2.391000	0.44424	0.429000	0.26202	0.528000	0.53228	ATT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	18	0	0	0	1	0	15	18				
BAIAP3	8938	broad.mit.edu	37	16	1397954	1397954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1397954C>T	ENST00000324385.5	+	32	3348	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCACTGGTCCGCAGCCAGAG	0.627																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(3190-3192)Cgc>Tgc		BAI1-associated protein 3							60.0	66.0	64.0					16																	1397954		2198	4300	6498	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1397954C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3190C>T	16.37:g.1397954C>T	ENSP00000324510:p.Arg1064Cys					BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046C	p.R1064C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			32	3348	+		Hepatocellular(780;0.0893)	1064			C2 2.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.3190C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739664	0.69304	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	4.75	4.75	0.60458	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.157023	0.42548	D	0.000693	T	0.64994	0.2649	N	0.17800	0.525	0.50313	D	0.999865	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.60173	0.614;0.803;0.87;0.803	T	0.68907	-0.5285	10	0.72032	D	0.01	-24.6693	10.4889	0.44739	0.1942:0.8058:0.0:0.0	.	993;1006;1064;1046	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	C	1029;1046;1064;1046;993	ENSP00000407242:R1029C;ENSP00000380625:R1046C;ENSP00000324510:R1064C;ENSP00000380626:R1046C;ENSP00000409533:R993C	ENSP00000324510:R1064C	R	+	1	0	BAIAP3	1337955	0.989000	0.36119	1.000000	0.80357	0.900000	0.52787	1.375000	0.34295	2.175000	0.68902	0.561000	0.74099	CGC		0.627	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			9	117	0	0	0	1	0	9	117				
TTN	7273	broad.mit.edu	37	2	179574469	179574469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179574469G>A	ENST00000591111.1	-	97	27850	c.27626C>T	c.(27625-27627)gCc>gTc	p.A9209V	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8282V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A9526V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13332	Ig-like 75.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTACCAGGCAACAGTTAT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(28576-28578)gCc>gTc		titin							135.0	138.0	137.0					2																	179574469		1868	4094	5962	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179574469G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27626C>T	2.37:g.179574469G>A	ENSP00000465570:p.Ala9209Val					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8282V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9209V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.A9526V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		99	28801	-			9209					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28577C>T		.	.	.	.	.	.	.	.	.	.	G	14.37	2.514280	0.44763	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.91	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52175	0.1718	N	0.13098	0.295	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.50898	-0.8773	9	0.87932	D	0	.	15.049	0.71850	0.0676:0.0:0.9324:0.0	.	9209	Q8WZ42	TITIN_HUMAN	V	8282	ENSP00000343764:A8282V	ENSP00000343764:A8282V	A	-	2	0	TTN	179282714	0.612000	0.27000	1.000000	0.80357	0.987000	0.75469	1.657000	0.37366	1.509000	0.48786	-0.136000	0.14681	GCC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	57	0	0	0	1	0	28	57				
TPCN2	219931	broad.mit.edu	37	11	68837924	68837924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68837924C>T	ENST00000294309.3	+	9	957	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R286W	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	286					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAAGAACCGGGCCTATGC	0.468																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(856-858)Cgg>Tgg		two pore segment channel 2							165.0	152.0	156.0					11																	68837924		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68837924C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.856C>T	11.37:g.68837924C>T	ENSP00000294309:p.Arg286Trp					TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R286W	p.R286W	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		9	957	+			286					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.856C>T	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	c	17.37	3.371546	0.61624	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.97480	-4.4;-4.4	4.33	4.33	0.51752	Ion transport (1);	0.149534	0.45606	D	0.000357	D	0.98302	0.9437	M	0.85197	2.74	0.49299	D	0.999771	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98971	1.0801	10	0.87932	D	0	-38.5141	12.7915	0.57537	0.1645:0.8355:0.0:0.0	.	286;286;201	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	W	216;286;201;286	ENSP00000294309:R286W;ENSP00000445551:R286W	ENSP00000294309:R286W	R	+	1	2	TPCN2	68594500	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.378000	0.44309	2.133000	0.65898	0.457000	0.33378	CGG		0.468	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		25	57	0	0	0	1	0	25	57				
USP44	84101	broad.mit.edu	37	12	95907642	95907642	+	IGR	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95907642A>G	ENST00000258499.3	-	0	4022				METAP2_ENST00000551840.1_Missense_Mutation_p.T466A|METAP2_ENST00000546753.1_Missense_Mutation_p.T444A|METAP2_ENST00000550777.1_Missense_Mutation_p.T431A|METAP2_ENST00000261220.9_Missense_Mutation_p.T444A|METAP2_ENST00000323666.5_Missense_Mutation_p.T467A	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTTGCGTCCAACATGTAAAGA	0.393																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1399-1401)Aca>Gca		methionyl aminopeptidase 2	L-Methionine(DB00134)						139.0	120.0	127.0					12																	95907642		2203	4300	6503	SO:0001628	intergenic_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95907642A>G	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907642A>G						METAP2_ENST00000546753.1_Missense_Mutation_p.T444A|METAP2_ENST00000261220.9_Missense_Mutation_p.T444A|METAP2_ENST00000551840.1_Missense_Mutation_p.T466A|METAP2_ENST00000550777.1_Missense_Mutation_p.T431A	p.T467A	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			11	1628	+			467					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1399A>G	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010859	0.54361	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.48	5.48	0.80851	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	H	0.96833	3.89	0.80722	D	1	B;B;B;B;B	0.31383	0.064;0.321;0.185;0.08;0.048	B;B;B;B;B	0.34180	0.097;0.124;0.177;0.124;0.058	D	0.83573	0.0113	9	0.72032	D	0.01	-8.7164	15.5659	0.76290	1.0:0.0:0.0:0.0	.	444;431;444;466;467	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	A	467;444;444;431;466	.	ENSP00000261220:T444A	T	+	1	0	METAP2	94431773	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.962000	0.93254	2.079000	0.62486	0.460000	0.39030	ACA		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		8	80	0	0	0	1	0	8	80				
BCL9	607	broad.mit.edu	37	1	147090775	147090775	+	Missense_Mutation	SNP	C	C	T	rs143556015	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147090775C>T	ENST00000234739.3	+	8	1554	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	272	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGCACCCCCACGTCCCCTGGA	0.612			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(814-816)Cgt>Tgt		B-cell CLL/lymphoma 9		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	57.0	56.0		814	4.7	0.8	1	dbSNP_134	56	4,8596	4.3+/-15.6	0,4,4296	yes	missense	BCL9	NM_004326.2	180	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	272/1427	147090775	5,13001	2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090775C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.814C>T	1.37:g.147090775C>T	ENSP00000234739:p.Arg272Cys						p.R272C	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1554	+	all_hematologic(923;0.115)		272			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.814C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787320	0.49997	2.27E-4	4.65E-4	ENSG00000116128	ENST00000234739	T	0.64991	-0.13	5.65	4.67	0.58626	.	0.286819	0.41294	D	0.000905	T	0.14399	0.0348	N	0.00926	-1.1	0.48236	D	0.999613	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.16364	-1.0405	10	0.46703	T	0.11	-5.1455	4.7267	0.12945	0.0:0.7434:0.0:0.2566	.	272;272	Q1JQ81;O00512	.;BCL9_HUMAN	C	272	ENSP00000234739:R272C	ENSP00000234739:R272C	R	+	1	0	BCL9	145557399	0.992000	0.36948	0.810000	0.32431	0.984000	0.73092	2.098000	0.41757	2.941000	0.99782	0.655000	0.94253	CGT		0.612	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		11	34	0	0	0	1	0	11	34				
ADI1	55256	broad.mit.edu	37	2	3504690	3504690	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3504690G>A	ENST00000327435.6	-	3	563	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ADI1_ENST00000382093.5_Silent_p.F99F	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCCTCACATCGAAGTACCCAC	0.537																																						ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(295-297)ttC>ttT		acireductone dioxygenase 1							220.0	163.0	182.0					2																	3504690		2203	4300	6503	SO:0001819	synonymous_variant	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3504690G>A		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.315C>T	2.37:g.3504690G>A						ADI1_ENST00000327435.6_Silent_p.F105F	p.F99F			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	3	3134	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		105						Silent	SNP	ENST00000327435.6	37	c.297C>T	CCDS1653.1																																																																																				0.537	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		15	25	0	0	0	1	0	15	25				
LRIT3	345193	broad.mit.edu	37	4	110790846	110790846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110790846G>T	ENST00000594814.1	+	4	941	c.941G>T	c.(940-942)aGc>aTc	p.S314I	LRIT3_ENST00000379920.3_Missense_Mutation_p.S269I|LRIT3_ENST00000409621.2_Missense_Mutation_p.S131I|LRIT3_ENST00000327908.3_Missense_Mutation_p.S131I	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	314	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCCATAATGAGCTTGACAGGC	0.433																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(391-393)aGc>aTc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							112.0	118.0	116.0					4																	110790846		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110790846G>T	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.941G>T	4.37:g.110790846G>T	ENSP00000469759:p.Ser314Ile					LRIT3_ENST00000409621.2_Missense_Mutation_p.S131I|LRIT3_ENST00000594814.1_Missense_Mutation_p.S314I|LRIT3_ENST00000379920.3_Missense_Mutation_p.S269I	p.S131I			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1156	+			269					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.392G>T	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073403	0.76415	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.33654	1.4;1.4;1.4	5.53	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	N	0.25201	0.72	0.58432	D	0.999999	P;P	0.52316	0.91;0.952	P;P	0.55923	0.74;0.787	T	0.36114	-0.9761	10	0.54805	T	0.06	.	15.612	0.76733	0.0:0.0:0.8614:0.1386	.	269;131	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	I	131;269;131	ENSP00000328222:S131I;ENSP00000369252:S269I;ENSP00000386734:S131I	ENSP00000328222:S131I	S	+	2	0	LRIT3	111010295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	1.290000	0.44636	0.655000	0.94253	AGC		0.433	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		31	77	1	0	2.46105e-21	1	3.23713e-21	31	77				
POTEF	728378	broad.mit.edu	37	2	130832316	130832316	+	Missense_Mutation	SNP	C	C	T	rs550374458	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130832316C>T	ENST00000409914.2	-	17	3128	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	POTEF_ENST00000357462.5_Missense_Mutation_p.R910H	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	910	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTGATGTCACGCACGATTTC	0.592													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15410	0.0		0.0	False		,,,				2504	0.0					ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(2728-2730)cGt>cAt		POTE ankyrin domain family, member F							21.0	24.0	23.0					2																	130832316		1846	3862	5708	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832316C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2729G>A	2.37:g.130832316C>T	ENSP00000386786:p.Arg910His					POTEF_ENST00000409914.2_Missense_Mutation_p.R910H	p.R910H			A5A3E0	POTEF_HUMAN			15	2822	-			910			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2729G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	15.49	2.850251	0.51270	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.09163	3.01;3.01	.	.	.	.	.	.	.	.	T	0.37732	0.1014	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.16364	-1.0405	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	910	A5A3E0	POTEF_HUMAN	H	910	ENSP00000350052:R910H;ENSP00000386786:R910H	ENSP00000350052:R910H	R	-	2	0	POTEF	130548786	1.000000	0.71417	0.102000	0.21198	0.103000	0.19146	2.740000	0.47418	0.119000	0.18210	0.121000	0.15741	CGT		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		20	28	0	0	0	1	0	20	28				
ERGIC1	57222	broad.mit.edu	37	5	172324045	172324045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172324045C>T	ENST00000393784.3	+	3	262	c.123C>T	c.(121-123)ctC>ctT	p.L41L	ERGIC1_ENST00000523291.1_Silent_p.L41L|ERGIC1_ENST00000519860.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	41					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTCTTCCTCTCGGAGCTCA	0.517																																						ENST00000393784.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9						c.(121-123)ctC>ctT		endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1							270.0	204.0	227.0					5																	172324045		2203	4300	6503	SO:0001819	synonymous_variant	57222				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr5:172324045C>T	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.123C>T	5.37:g.172324045C>T						ERGIC1_ENST00000523291.1_Silent_p.L41L|ERGIC1_ENST00000519860.1_3'UTR	p.L41L	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	262	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	41					Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	ENST00000393784.3	37	c.123C>T	CCDS34292.1																																																																																				0.517	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		9	57	0	0	0	1	0	9	57				
MINA	84864	broad.mit.edu	37	3	97668832	97668832	+	Silent	SNP	T	T	G	rs377477938		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97668832T>G	ENST00000333396.7	-	7	1498	c.916A>C	c.(916-918)Aga>Cga	p.R306R	MINA_ENST00000360258.4_Silent_p.R305R|MINA_ENST00000394198.2_Silent_p.R306R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTTAATCGTCTTGTAGCAACA	0.502																																						ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(916-918)Aga>Cga		MYC induced nuclear antigen							99.0	89.0	93.0					3																	97668832		2203	4300	6503	SO:0001819	synonymous_variant	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97668832T>G	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.916A>C	3.37:g.97668832T>G						MINA_ENST00000360258.4_Silent_p.R305R|MINA_ENST00000394198.2_Silent_p.R306R	p.R306R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			7	1498	-			306						Silent	SNP	ENST00000333396.7	37	c.916A>C	CCDS43114.1																																																																																				0.502	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		5	64	0	0	0	1	0	5	64				
BRSK1	84446	broad.mit.edu	37	19	55814691	55814691	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55814691A>G	ENST00000309383.1	+	11	1318	c.1041A>G	c.(1039-1041)gaA>gaG	p.E347E	BRSK1_ENST00000590333.1_Silent_p.E363E|BRSK1_ENST00000326848.7_Silent_p.E42E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	347	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGAACCAAGAAAAGATGATAT	0.552																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1039-1041)gaA>gaG		BR serine/threonine kinase 1							73.0	71.0	72.0					19																	55814691		2203	4300	6503	SO:0001819	synonymous_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814691A>G	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1041A>G	19.37:g.55814691A>G						BRSK1_ENST00000590333.1_Silent_p.E363E|BRSK1_ENST00000326848.7_Silent_p.E42E	p.E347E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	11	1318	+		Renal(1328;0.245)	347			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.1041A>G	CCDS12921.1																																																																																				0.552	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		5	59	0	0	0	1	0	5	59				
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562																																						ENST00000264433.6																			2	Substitution - coding silent(2)	p.T964T(1)|p.T290T(1)	lung(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2890-2892)acC>acT		folliculin interacting protein 2							70.0	71.0	71.0					4																	159791564		2116	4241	6357	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159791564C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2892C>T	4.37:g.159791564C>T						FNIP2_ENST00000379346.3_Silent_p.T987T	p.T964T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	14	2967	+	all_hematologic(180;0.24)		964					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.2892C>T	CCDS47155.1																																																																																				0.562	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		10	21	0	0	0	1	0	10	21				
DLX2	1746	broad.mit.edu	37	2	172965582	172965582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172965582C>T	ENST00000234198.4	-	3	1037	c.676G>A	c.(676-678)Gct>Act	p.A226T	DLX2_ENST00000466293.2_3'UTR|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	226					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGAGAAGCGCTGGCCCCA	0.637																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(676-678)Gct>Act		distal-less homeobox 2							21.0	21.0	21.0					2																	172965582		2170	4219	6389	SO:0001583	missense	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172965582C>T	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.676G>A	2.37:g.172965582C>T	ENSP00000234198:p.Ala226Thr					DLX2_ENST00000466293.2_3'UTR	p.A226T	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	1037	-			226					B4DMK4|B7ZA14	Missense_Mutation	SNP	ENST00000234198.4	37	c.676G>A	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	c	14.46	2.541767	0.45280	.	.	ENSG00000115844	ENST00000234198	D	0.90900	-2.75	4.8	3.91	0.45181	.	0.060767	0.64402	D	0.000007	T	0.80297	0.4597	L	0.36672	1.1	0.80722	D	1	P	0.46277	0.875	B	0.28709	0.093	T	0.77138	-0.2698	10	0.13470	T	0.59	-8.7079	12.316	0.54958	0.3689:0.6311:0.0:0.0	.	226	Q07687	DLX2_HUMAN	T	226	ENSP00000234198:A226T	ENSP00000234198:A226T	A	-	1	0	DLX2	172673828	0.764000	0.28473	1.000000	0.80357	0.685000	0.39939	0.194000	0.17135	0.972000	0.38314	0.457000	0.33378	GCT		0.637	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			9	12	0	0	0	1	0	9	12				
HGD	3081	broad.mit.edu	37	3	120352051	120352051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120352051G>T	ENST00000283871.5	-	13	1590	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	377					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCTTCTCAAAGCAGTCAGCAT	0.562																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(1129-1131)tgC>tgA		homogentisate 1,2-dioxygenase							116.0	92.0	100.0					3																	120352051		2203	4296	6499	SO:0001587	stop_gained	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120352051G>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1131C>A	3.37:g.120352051G>T	ENSP00000283871:p.Cys377*						p.C377*	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	13	1590	-			377					A8K417|B2R8Z0	Nonsense_Mutation	SNP	ENST00000283871.5	37	c.1131C>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	39	7.880100	0.98539	.	.	ENSG00000113924	ENST00000283871	.	.	.	5.2	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-0.3939	11.5456	0.50693	0.1351:0.0:0.8649:0.0	.	.	.	.	X	377	.	ENSP00000283871:C377X	C	-	3	2	HGD	121834741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.848000	0.62874	2.703000	0.92315	0.460000	0.39030	TGC		0.562	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			20	29	1	0	8.28177e-16	1	1.06505e-15	20	29				
HEATR6	63897	broad.mit.edu	37	17	58121016	58121016	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121016T>G	ENST00000184956.6	-	20	3470	c.3454A>C	c.(3454-3456)Agg>Cgg	p.R1152R	AC005702.3_ENST00000582298.1_RNA|HEATR6_ENST00000585976.1_Silent_p.R1040R|AC005702.1_ENST00000581326.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.2_ENST00000577558.1_RNA|AC005702.4_ENST00000583144.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1152							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATGATGGCCCTTCTGGCTGTG	0.527																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3454-3456)Agg>Cgg		HEAT repeat containing 6							121.0	114.0	117.0					17																	58121016		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58121016T>G	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3454A>C	17.37:g.58121016T>G						HEATR6_ENST00000585976.1_Silent_p.R1040R	p.R1152R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3470	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1152					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.3454A>C	CCDS11623.1																																																																																				0.527	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		17	57	0	0	0	1	0	17	57				
PCDHB14	56122	broad.mit.edu	37	5	140603415	140603415	+	Missense_Mutation	SNP	C	C	A	rs373782343		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140603415C>A	ENST00000239449.4	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAAAACCCTTTACAGTTT	0.428																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(337-339)cCt>cAt									98.0	110.0	106.0					5																	140603415		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603415C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.338C>A	5.37:g.140603415C>A	ENSP00000239449:p.Pro113His					PCDHB14_ENST00000515856.2_Intron	p.P113H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	338	+			113			Cadherin 1.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.338C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	19.75	3.885614	0.72410	.	.	ENSG00000120327	ENST00000239449	T	0.56941	0.43	4.92	4.92	0.64577	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.81866	0.4913	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88191	0.2877	9	0.87932	D	0	.	18.0965	0.89492	0.0:1.0:0.0:0.0	.	113	Q9Y5E9	PCDBE_HUMAN	H	113	ENSP00000239449:P113H	ENSP00000239449:P113H	P	+	2	0	PCDHB14	140583599	0.706000	0.27856	1.000000	0.80357	0.992000	0.81027	3.276000	0.51646	2.434000	0.82447	0.650000	0.86243	CCT		0.428	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		11	139	1	0	7.03913e-09	1	8.47891e-09	11	139				
PACRG	135138	broad.mit.edu	37	6	163510401	163510401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:163510401C>T	ENST00000337019.3	+	5	798	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	PACRG_ENST00000366889.2_Nonsense_Mutation_p.Q192*|PACRG_ENST00000366888.2_Nonsense_Mutation_p.Q192*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	192					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TTATTACCGTCAAATCCTCCC	0.478																																						ENST00000337019.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(574-576)Caa>Taa		PARK2 co-regulated							137.0	116.0	123.0					6																	163510401		2203	4300	6503	SO:0001587	stop_gained	135138							g.chr6:163510401C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.574C>T	6.37:g.163510401C>T	ENSP00000337946:p.Gln192*					PACRG_ENST00000366888.2_Nonsense_Mutation_p.Q192*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.Q192*	p.Q192*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	798	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	192					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	37	c.574C>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.872566|4.872566	0.91587|0.91587	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.052637|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69824	.|0.3154	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67550	.|-0.5642	.|4	0.49607|.	T|.	0.09|.	-25.7418|-25.7418	19.4531|19.4531	0.94876|0.94876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	192|107	.|.	ENSP00000337946:Q192X|.	Q|S	+|+	1|2	0|0	PACRG|PACRG	163430391|163430391	1.000000|1.000000	0.71417|0.71417	0.851000|0.851000	0.33527|0.33527	0.998000|0.998000	0.95712|0.95712	5.059000|5.059000	0.64306|0.64306	2.600000|2.600000	0.87896|0.87896	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.478	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		26	32	0	0	0	1	0	26	32				
TPP2	7174	broad.mit.edu	37	13	103268766	103268766	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103268766C>A	ENST00000376065.4	+	4	447	c.411C>A	c.(409-411)atC>atA	p.I137I	TPP2_ENST00000376052.3_Silent_p.I137I	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	137	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGAAAAAATCTGGGACCCTG	0.423																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(409-411)atC>atA		tripeptidyl peptidase II							91.0	100.0	97.0					13																	103268766		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103268766C>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.411C>A	13.37:g.103268766C>A						TPP2_ENST00000376065.4_Silent_p.I137I	p.I137I			P29144	TPP2_HUMAN			4	427	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		137					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.411C>A	CCDS9502.1																																																																																				0.423	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			12	52	1	0	1.3612e-06	1	1.57881e-06	12	52				
FGFR4	2264	broad.mit.edu	37	5	176517466	176517466	+	Missense_Mutation	SNP	G	G	A	rs150191035		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176517466G>A	ENST00000292408.4	+	3	412	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	FGFR4_ENST00000393648.2_Missense_Mutation_p.C56Y|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000292410.3_Missense_Mutation_p.C56Y|FGFR4_ENST00000502906.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000393637.1_Missense_Mutation_p.C56Y	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	56	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GTGCGTCTGTGCTGTGGGCGG	0.682										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(166-168)tGc>tAc		fibroblast growth factor receptor 4	Palifermin(DB00039)						33.0	35.0	34.0					5																	176517466		2203	4299	6502	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176517466G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.167G>A	5.37:g.176517466G>A	ENSP00000292408:p.Cys56Tyr	TSP Lung(9;0.080)				FGFR4_ENST00000393648.2_Missense_Mutation_p.C56Y|FGFR4_ENST00000502906.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000393637.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000292410.3_Missense_Mutation_p.C56Y|FGFR4_ENST00000507708.1_3'UTR	p.C56Y	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	412	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	56			Ig-like C2-type 1.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.167G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470749	0.43942	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000514472;ENST00000502906;ENST00000292410;ENST00000510911;ENST00000513166;ENST00000393637;ENST00000377207	T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;0.94;-1.49;-1.49	4.87	4.87	0.63330	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	0.272597	0.42420	D	0.000701	T	0.72162	0.3426	L	0.43152	1.355	0.31676	N	0.643783	B;B;B;B;B	0.24882	0.042;0.113;0.074;0.034;0.003	B;B;B;B;B	0.30401	0.017;0.036;0.062;0.115;0.002	T	0.68146	-0.5486	10	0.17832	T	0.49	.	9.2983	0.37829	0.0998:0.0:0.9002:0.0	.	56;56;56;56;56	B5A965;B4DVP5;P22455-2;E7EWF4;P22455	.;.;.;.;FGFR4_HUMAN	Y	56;56;56;56;56;56;56;56;56;132	ENSP00000292408:C56Y;ENSP00000424905:C56Y;ENSP00000377259:C56Y;ENSP00000426492:C56Y;ENSP00000424960:C56Y;ENSP00000292410:C56Y;ENSP00000427222:C56Y;ENSP00000422889:C56Y;ENSP00000377254:C56Y	ENSP00000292408:C56Y	C	+	2	0	FGFR4	176450072	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	3.455000	0.52993	2.247000	0.74100	0.313000	0.20887	TGC		0.682	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			20	41	0	0	0	1	0	20	41				
TMC7	79905	broad.mit.edu	37	16	19056286	19056286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19056286C>T	ENST00000304381.5	+	10	1548	c.1418C>T	c.(1417-1419)aCa>aTa	p.T473I	TMC7_ENST00000569532.1_Missense_Mutation_p.T473I|TMC7_ENST00000421369.3_Missense_Mutation_p.T363I	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	473					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATGATGACACATGTGACCTT	0.562																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1087-1089)aCa>aTa		transmembrane channel-like 7							123.0	114.0	117.0					16																	19056286		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19056286C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1418C>T	16.37:g.19056286C>T	ENSP00000304710:p.Thr473Ile					TMC7_ENST00000304381.5_Missense_Mutation_p.T473I|TMC7_ENST00000569532.1_Missense_Mutation_p.T473I	p.T363I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			10	1646	+			473					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1088C>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	4.857	0.159273	0.09236	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.72835	-0.58;-0.69	5.41	2.17	0.27698	.	1.831670	0.02567	N	0.097370	T	0.55609	0.1931	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.12156	0.004;0.007	T	0.44283	-0.9338	10	0.40728	T	0.16	.	6.3717	0.21485	0.2207:0.6015:0.0:0.1778	.	473;473	Q7Z402;B3KSZ3	TMC7_HUMAN;.	I	473;363	ENSP00000304710:T473I;ENSP00000397081:T363I	ENSP00000304710:T473I	T	+	2	0	TMC7	18963787	0.001000	0.12720	0.002000	0.10522	0.052000	0.14988	1.142000	0.31540	0.659000	0.30945	0.555000	0.69702	ACA		0.562	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		55	66	0	0	0	1	0	55	66				
KATNB1	10300	broad.mit.edu	37	16	57787351	57787351	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57787351A>G	ENST00000379661.3	+	12	1489	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGCGAGGATGACCGGGACGAG	0.667																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1096-1098)gAc>gGc		katanin p80 (WD repeat containing) subunit B 1							38.0	45.0	43.0					16																	57787351		2196	4299	6495	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57787351A>G	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1097A>G	16.37:g.57787351A>G	ENSP00000368982:p.Asp366Gly						p.D366G	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			12	1489	+		all_neural(199;0.223)	366			Interaction with PAFAH1B1 (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.1097A>G	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564988	0.65651	.	.	ENSG00000140854	ENST00000379661	T	0.56103	0.48	5.19	5.19	0.71726	.	0.052947	0.85682	D	0.000000	T	0.44477	0.1295	L	0.47716	1.5	0.58432	D	0.999998	P	0.47762	0.9	B	0.39068	0.289	T	0.38628	-0.9652	10	0.26408	T	0.33	0.0495	14.2442	0.65978	1.0:0.0:0.0:0.0	.	366	Q9BVA0	KTNB1_HUMAN	G	366	ENSP00000368982:D366G	ENSP00000368982:D366G	D	+	2	0	KATNB1	56344852	1.000000	0.71417	0.964000	0.40570	0.736000	0.42039	8.982000	0.93471	1.960000	0.56953	0.482000	0.46254	GAC		0.667	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			4	51	0	0	0	1	0	4	51				
AGAP11	119385	broad.mit.edu	37	10	88768928	88768928	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88768928C>A	ENST00000444431.1	+	0	3528				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GAGCCAGATCCTGGCCAGCCT	0.557																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							93.0	101.0	98.0					10																	88768928		2203	4294	6497			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768928C>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768928C>A						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	3528	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.557	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		9	136	1	0	1.12685e-05	1	1.27857e-05	9	136				
SERINC3	10955	broad.mit.edu	37	20	43141617	43141617	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43141617C>A	ENST00000342374.4	-	3	377	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	SERINC3_ENST00000468234.1_5'Flank|SERINC3_ENST00000541235.1_Missense_Mutation_p.G19W|SERINC3_ENST00000255175.1_Missense_Mutation_p.G74W	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	74					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTAAATCCCCCTTCACAAAAT	0.393																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(220-222)Ggg>Tgg		serine incorporator 3							105.0	106.0	105.0					20																	43141617		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43141617C>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.220G>T	20.37:g.43141617C>A	ENSP00000340243:p.Gly74Trp					SERINC3_ENST00000541235.1_Missense_Mutation_p.G19W|SERINC3_ENST00000255175.1_Missense_Mutation_p.G74W	p.G74W	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		3	377	-		Myeloproliferative disorder(115;0.0122)	74					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.220G>T	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883228	0.72410	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.14640	2.49;2.49;2.5	5.08	5.08	0.68730	.	0.272302	0.43416	D	0.000572	T	0.41558	0.1164	M	0.87971	2.92	0.42964	D	0.994412	D;D	0.63880	0.984;0.993	D;D	0.74348	0.949;0.983	T	0.40136	-0.9579	10	0.72032	D	0.01	.	13.3384	0.60530	0.0:0.9242:0.0:0.0758	.	74;74	Q53GK8;Q13530	.;SERC3_HUMAN	W	74;74;41;19	ENSP00000255175:G74W;ENSP00000340243:G74W;ENSP00000440966:G19W	ENSP00000255175:G74W	G	-	1	0	SERINC3	42575031	0.945000	0.32115	0.479000	0.27329	0.970000	0.65996	4.716000	0.61916	2.786000	0.95864	0.563000	0.77884	GGG		0.393	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		21	49	1	0	1.96292e-10	1	2.41709e-10	21	49				
OBSCN	84033	broad.mit.edu	37	1	228524811	228524811	+	Silent	SNP	G	G	A	rs377605206		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228524811G>A	ENST00000422127.1	+	65	16688	c.16644G>A	c.(16642-16644)tcG>tcA	p.S5548S	OBSCN_ENST00000284548.11_Silent_p.S5548S|OBSCN_ENST00000366709.4_Silent_p.S2667S|OBSCN_ENST00000570156.2_Silent_p.S6505S|OBSCN_ENST00000366707.4_Silent_p.S3182S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5548					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGGTATCGGCCAAGATCA	0.642																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19513-19515)tcG>tcA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	,	1,4141		0,1,2070	63.0	70.0	68.0		16644,16644	-9.8	0.2	1		68	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6281	AA,AG,GG		0.0,0.0241,0.0080	,	5548/7969,5548/6621	228524811	1,12563	2071	4211	6282	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228524811G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16644G>A	1.37:g.228524811G>A						OBSCN_ENST00000366707.4_Silent_p.S3182S|OBSCN_ENST00000366709.4_Silent_p.S2667S|OBSCN_ENST00000422127.1_Silent_p.S5548S|OBSCN_ENST00000284548.11_Silent_p.S5548S	p.S6505S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			76	19589	+		Prostate(94;0.0405)	5548			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.19515G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257129	0.39896	2.41E-4	0.0	ENSG00000154358	ENST00000441106	.	.	.	4.88	-9.75	0.00506	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41980	-0.9478	4	.	.	.	.	3.4405	0.07461	0.4659:0.0706:0.1178:0.3458	.	.	.	.	S	164	.	.	G	+	1	0	OBSCN	226591434	0.004000	0.15560	0.231000	0.23993	0.966000	0.64601	-1.442000	0.02407	-2.463000	0.00535	-0.768000	0.03414	GGC		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	31	0	0	0	1	0	17	31				
ZNF365	22891	broad.mit.edu	37	10	64136617	64136617	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64136617T>C	ENST00000395254.3	+	2	945	c.665T>C	c.(664-666)gTg>gCg	p.V222A	ZNF365_ENST00000395255.3_Missense_Mutation_p.V222A|ZNF365_ENST00000410046.3_Missense_Mutation_p.V222A|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACAGACAGGTGGACGTGGCC	0.512																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(664-666)gTg>gCg		zinc finger protein 365							88.0	97.0	94.0					10																	64136617		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136617T>C	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.665T>C	10.37:g.64136617T>C	ENSP00000378674:p.Val222Ala					ZNF365_ENST00000395255.3_Missense_Mutation_p.V222A|ZNF365_ENST00000410046.3_Missense_Mutation_p.V222A|ZNF365_ENST00000466727.1_Intron	p.V222A	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	945	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.665T>C	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168179	0.78339	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.37752	1.18;1.18;1.18	5.73	4.57	0.56435	.	0.000000	0.64402	D	0.000006	T	0.59865	0.2225	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.996;0.996;0.996	T	0.63510	-0.6621	10	0.87932	D	0	.	12.0695	0.53607	0.1292:0.0:0.0:0.8708	.	222;222;222;237	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	A	222	ENSP00000378674:V222A;ENSP00000378675:V222A;ENSP00000387091:V222A	ENSP00000378674:V222A	V	+	2	0	ZNF365	63806623	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.870000	0.75526	0.960000	0.38005	0.454000	0.30748	GTG		0.512	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		40	63	0	0	0	1	0	40	63				
PKHD1L1	93035	broad.mit.edu	37	8	110448591	110448591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110448591G>A	ENST00000378402.5	+	30	3634	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1177	IPT/TIG 5.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTTATCTGGATTTGGCTTT	0.318										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3529-3531)gGa>gAa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							100.0	101.0	100.0					8																	110448591		1833	4100	5933	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110448591G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3530G>A	8.37:g.110448591G>A	ENSP00000367655:p.Gly1177Glu	HNSCC(38;0.096)					p.G1177E	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		30	3634	+			1177			IPT/TIG 5.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3530G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367978	0.82463	.	.	ENSG00000205038	ENST00000378402	D	0.98164	-4.76	5.44	5.44	0.79542	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99239	0.9735	H	0.95780	3.72	0.38336	D	0.943933	D	0.76494	0.999	D	0.75484	0.986	D	0.99912	1.1204	10	0.87932	D	0	.	14.7764	0.69734	0.0:0.0:1.0:0.0	.	1177	Q86WI1	PKHL1_HUMAN	E	1177	ENSP00000367655:G1177E	ENSP00000367655:G1177E	G	+	2	0	PKHD1L1	110517767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.312000	0.65792	2.545000	0.85829	0.655000	0.94253	GGA		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	36	0	0	0	1	0	18	36				
MYT1L	23040	broad.mit.edu	37	2	1855461	1855461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1855461C>T	ENST00000399161.2	-	19	3473	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D	MYT1L_ENST00000428368.2_Missense_Mutation_p.G907D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	909					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCATCACAGCCAGGCGTGGG	0.383																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2725-2727)gGc>gAc		myelin transcription factor 1-like							107.0	108.0	108.0					2																	1855461		1931	4163	6094	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1855461C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2726G>A	2.37:g.1855461C>T	ENSP00000382114:p.Gly909Asp					MYT1L_ENST00000428368.2_Missense_Mutation_p.G907D	p.G909D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	19	3473	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	909					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2726G>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.035637	0.75617	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.70045	-0.45;-0.45	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.82825	0.5121	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.83912	0.0296	10	0.59425	D	0.04	-43.1344	16.934	0.86198	0.0:1.0:0.0:0.0	.	909;907	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	D	909;855;907	ENSP00000382114:G909D;ENSP00000396103:G907D	ENSP00000295067:G855D	G	-	2	0	MYT1L	1834468	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.513000	0.67037	2.731000	0.93534	0.557000	0.71058	GGC		0.383	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		8	82	0	0	0	1	0	8	82				
WASL	8976	broad.mit.edu	37	7	123332912	123332912	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332912G>T	ENST00000223023.4	-	9	1168	c.836C>A	c.(835-837)cCt>cAt	p.P279H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	279	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGGTGGAGGTGGTGGTGC	0.473																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(835-837)cCt>cAt		Wiskott-Aldrich syndrome-like							50.0	57.0	55.0					7																	123332912		2193	4279	6472	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332912G>T	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.836C>A	7.37:g.123332912G>T	ENSP00000223023:p.Pro279His						p.P279H	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1168	-			279			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.836C>A	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596599	0.46318	.	.	ENSG00000106299	ENST00000223023	D	0.90385	-2.66	5.58	4.7	0.59300	Wiscott-Aldrich syndrome, C-terminal (1);	0.102199	0.64402	D	0.000002	D	0.90249	0.6951	L	0.60904	1.88	0.58432	D	0.999999	D	0.55172	0.97	P	0.47206	0.541	D	0.90030	0.4134	10	0.49607	T	0.09	-9.1526	14.4182	0.67165	0.0713:0.0:0.9287:0.0	.	279	O00401	WASL_HUMAN	H	279	ENSP00000223023:P279H	ENSP00000223023:P279H	P	-	2	0	WASL	123120148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.924000	0.75823	1.369000	0.46134	0.549000	0.68633	CCT		0.473	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		8	133	1	0	0.00448238	1	0.00472561	8	133				
LRRFIP2	9209	broad.mit.edu	37	3	37107390	37107390	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37107390T>G	ENST00000336686.4	-	23	1690	c.1610A>C	c.(1609-1611)gAt>gCt	p.D537A	LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D240A|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.D537A|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D319A|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D216A|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D240A			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	537					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGACTGACATCACCATTGGG	0.512																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1609-1611)gAt>gCt		leucine rich repeat (in FLII) interacting protein 2							102.0	99.0	100.0					3																	37107390		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37107390T>G	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1610A>C	3.37:g.37107390T>G	ENSP00000338727:p.Asp537Ala					LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D240A|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.D537A|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D240A|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D319A|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D216A	p.D537A	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			24	2032	-			537					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.1610A>C	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	30|30	5.053493|5.053493	0.93793|0.93793	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230|ENST00000440742	T;T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.7;0.7|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.042046|.	0.85682|.	D|.	0.000000|.	T|.	0.75133|.	0.3808|.	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.997;1.0;0.999;0.986|.	D;D;D;D|.	0.74023|.	0.966;0.977;0.982;0.96|.	T|.	0.74466|.	-0.3656|.	10|.	0.39692|.	T|.	0.17|.	-13.1432|-13.1432	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	319;216;240;537|.	A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608|.	.;.;.;LRRF2_HUMAN|.	A|C	537;216;537;240;319;240|118	ENSP00000392217:D537A;ENSP00000346349:D216A;ENSP00000338727:D537A;ENSP00000416364:D240A;ENSP00000379705:D319A;ENSP00000405480:D240A|.	ENSP00000338727:D537A|.	D|X	-|-	2|3	0|0	LRRFIP2|LRRFIP2	37082394|37082394	1.000000|1.000000	0.71417|0.71417	0.651000|0.651000	0.29564|0.29564	0.997000|0.997000	0.91878|0.91878	7.509000|7.509000	0.81698|0.81698	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.512	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		27	53	0	0	0	1	0	27	53				
AGO1	26523	broad.mit.edu	37	1	36367872	36367872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36367872T>C	ENST00000373204.4	+	11	1544	c.1331T>C	c.(1330-1332)aTt>aCt	p.I444T	AGO1_ENST00000373206.1_Missense_Mutation_p.I369T	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	444					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TACAATGGGATTGAGATCAAA	0.577																																						ENST00000373204.4																			0											c.(1330-1332)aTt>aCt		argonaute RISC catalytic component 1							108.0	107.0	107.0					1																	36367872		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36367872T>C	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1331T>C	1.37:g.36367872T>C	ENSP00000362300:p.Ile444Thr					AGO1_ENST00000373206.1_Missense_Mutation_p.I369T	p.I444T	NM_012199.2	NP_036331.1					11	1544	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1331T>C	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.918648	0.52546	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.05081	3.5;3.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.76574	2.34	0.80722	D	1	B	0.02656	0.0	B	0.23275	0.045	T	0.02398	-1.1165	10	0.35671	T	0.21	-22.8115	15.9154	0.79512	0.0:0.0:0.0:1.0	.	444	Q9UL18	AGO1_HUMAN	T	369;444	ENSP00000362302:I369T;ENSP00000362300:I444T	ENSP00000362300:I444T	I	+	2	0	EIF2C1	36140459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.178000	0.69098	0.533000	0.62120	ATT		0.577	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			32	50	0	0	0	1	0	32	50				
ASPM	259266	broad.mit.edu	37	1	197072572	197072572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197072572C>A	ENST00000367409.4	-	18	6065	c.5809G>T	c.(5809-5811)Gga>Tga	p.G1937*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1937					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTTCCTTCCTGCAGTCCAT	0.428																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5809-5811)Gga>Tga		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							200.0	197.0	198.0					1																	197072572		2203	4300	6503	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072572C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5809G>T	1.37:g.197072572C>A	ENSP00000356379:p.Gly1937*					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.G1937*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6065	-			1937					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.5809G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	46	12.625434	0.99683	.	.	ENSG00000066279	ENST00000367409	.	.	.	5.51	5.51	0.81932	.	0.154834	0.44483	D	0.000442	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	12.3381	0.55079	0.0:0.8782:0.0:0.1218	.	.	.	.	X	1937	.	ENSP00000356379:G1937X	G	-	1	0	ASPM	195339195	0.252000	0.23972	0.131000	0.22000	0.062000	0.15995	3.252000	0.51461	2.577000	0.86979	0.650000	0.86243	GGA		0.428	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		15	219	1	0	1.67942e-08	1	2.01326e-08	15	219				
MAML3	55534	broad.mit.edu	37	4	140811770	140811770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811770G>T	ENST00000509479.2	-	2	1676	c.820C>A	c.(820-822)Ctc>Atc	p.L274I	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.L118I	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCTTGTTTGAGGTCTTTGCTC	0.423																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(820-822)Ctc>Atc		mastermind-like 3 (Drosophila)							171.0	161.0	164.0					4																	140811770		1952	4151	6103	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811770G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.820C>A	4.37:g.140811770G>T	ENSP00000421180:p.Leu274Ile					MAML3_ENST00000327122.5_Missense_Mutation_p.L118I	p.L274I	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	1676	-	all_hematologic(180;0.162)		274						Missense_Mutation	SNP	ENST00000509479.2	37	c.820C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307980	0.60305	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.25912	1.77	5.24	5.24	0.73138	.	0.073354	0.56097	D	0.000036	T	0.15435	0.0372	L	0.38531	1.155	0.80722	D	1	P	0.38535	0.635	B	0.27608	0.081	T	0.04427	-1.0952	10	0.33141	T	0.24	.	8.2866	0.31932	0.0781:0.0:0.7659:0.156	.	274	Q96JK9	MAML3_HUMAN	I	274;118	ENSP00000421180:L274I	ENSP00000313316:L118I	L	-	1	0	MAML3	141031220	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	2.277000	0.43417	2.421000	0.82119	0.585000	0.79938	CTC		0.423	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			48	96	1	0	1.67753e-36	1	2.25802e-36	48	96				
RBM44	375316	broad.mit.edu	37	2	238725905	238725905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238725905C>T	ENST00000409864.1	+	3	600	c.346C>T	c.(346-348)Cct>Tct	p.P116S	RBM44_ENST00000316997.4_Missense_Mutation_p.P116S|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	115						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATATTCTATACCTTATTCAGA	0.323																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(346-348)Cct>Tct		RNA binding motif protein 44							31.0	29.0	30.0					2																	238725905		1816	4061	5877	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238725905C>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.346C>T	2.37:g.238725905C>T	ENSP00000386727:p.Pro116Ser					RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.P116S	p.P116S	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	478	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	115					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.346C>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	2.806	-0.248072	0.05867	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.28069	1.63;1.63	5.29	0.983	0.19767	.	0.491901	0.18763	N	0.131822	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.20806	-1.0264	10	0.17832	T	0.49	-0.4877	2.8043	0.05423	0.1442:0.5502:0.1404:0.1653	.	115	Q6ZP01	RBM44_HUMAN	S	116	ENSP00000321179:P116S;ENSP00000386727:P116S	ENSP00000321179:P116S	P	+	1	0	RBM44	238390644	0.073000	0.21202	0.149000	0.22428	0.004000	0.04260	0.871000	0.28023	0.631000	0.30412	-0.251000	0.11542	CCT		0.323	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		11	22	0	0	0	1	0	11	22				
P2RX1	5023	broad.mit.edu	37	17	3808550	3808550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3808550C>A	ENST00000225538.3	-	2	523	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	83					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CATCCCAGACCTGGGGGCCGA	0.622																																						ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(247-249)caG>caT		purinergic receptor P2X, ligand-gated ion channel, 1							37.0	42.0	41.0					17																	3808550		2203	4299	6502	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3808550C>A	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.249G>T	17.37:g.3808550C>A	ENSP00000225538:p.Gln83His						p.Q83H	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	2	523	-			83					Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.249G>T	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412023	0.42817	.	.	ENSG00000108405	ENST00000225538	T	0.04502	3.61	5.84	1.44	0.22558	.	0.140458	0.56097	D	0.000039	T	0.02727	0.0082	N	0.11064	0.09	0.33608	D	0.603157	B	0.14012	0.009	B	0.20184	0.028	T	0.24476	-1.0159	10	0.52906	T	0.07	-15.2283	7.016	0.24889	0.0:0.5907:0.1836:0.2257	.	83	P51575	P2RX1_HUMAN	H	83	ENSP00000225538:Q83H	ENSP00000225538:Q83H	Q	-	3	2	P2RX1	3755299	0.997000	0.39634	1.000000	0.80357	0.957000	0.61999	0.565000	0.23578	0.391000	0.25143	0.561000	0.74099	CAG		0.622	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		20	26	1	0	2.37509e-13	1	3.01126e-13	20	26				
EIF3A	8661	broad.mit.edu	37	10	120801913	120801913	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120801913C>T	ENST00000369144.3	-	19	3246	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1006H	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCATCCCACGTCTTGGTCC	0.597																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3118-3120)cGt>cAt		eukaryotic translation initiation factor 3, subunit A							317.0	239.0	265.0					10																	120801913		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801913C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3119G>A	10.37:g.120801913C>T	ENSP00000358140:p.Arg1040His					EIF3A_ENST00000541549.1_Missense_Mutation_p.R1006H|EIF3A_ENST00000478852.1_Intron	p.R1040H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3246	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1040			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3119G>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363761	0.82353	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.27720	1.65;1.67	5.41	5.41	0.78517	.	0.000000	0.40064	N	0.001199	T	0.61949	0.2388	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.62196	-0.6905	10	0.42905	T	0.14	-13.4471	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1006;1040	F5H335;Q14152	.;EIF3A_HUMAN	H	1040;1006	ENSP00000358140:R1040H;ENSP00000438178:R1006H	ENSP00000358140:R1040H	R	-	2	0	EIF3A	120791903	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	7.158000	0.77470	2.826000	0.97356	0.655000	0.94253	CGT		0.597	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		62	118	0	0	0	1	0	62	118				
PCNX	22990	broad.mit.edu	37	14	71524435	71524435	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71524435T>C	ENST00000304743.2	+	26	5292	c.4846T>C	c.(4846-4848)Ttc>Ctc	p.F1616L	PCNX_ENST00000238570.5_Intron|PCNX_ENST00000439984.3_Missense_Mutation_p.F1505L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1616						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGACTTGAATTCAGAGGTAA	0.408																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4846-4848)Ttc>Ctc		pecanex homolog (Drosophila)							181.0	178.0	179.0					14																	71524435		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71524435T>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4846T>C	14.37:g.71524435T>C	ENSP00000304192:p.Phe1616Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.F1505L|PCNX_ENST00000238570.5_Intron	p.F1616L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	26	5292	+			1616					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4846T>C	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	T	31	5.065884	0.93898	.	.	ENSG00000100731	ENST00000304743;ENST00000439984	T;T	0.15139	2.75;2.45	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.87180	2.865	0.80722	D	1	P;D	0.58268	0.589;0.982	B;D	0.67548	0.145;0.952	T	0.46748	-0.9169	10	0.30854	T	0.27	.	15.7431	0.77918	0.0:0.0:0.0:1.0	.	1505;1616	B2RTR6;Q96RV3	.;PCX1_HUMAN	L	1616;1505	ENSP00000304192:F1616L;ENSP00000396617:F1505L	ENSP00000304192:F1616L	F	+	1	0	PCNX	70594188	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.619000	0.83057	2.116000	0.64780	0.482000	0.46254	TTC		0.408	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		87	151	0	0	0	1	0	87	151				
SBSPON	157869	broad.mit.edu	37	8	73993338	73993338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73993338C>T	ENST00000297354.6	-	2	529	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	SBSPON_ENST00000519697.1_5'UTR|RP11-956J14.1_ENST00000442274.1_RNA	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	109	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G104W(1)									CAGGGCGCCCCGCCGTTCTGA	0.647																																						ENST00000297354.6																			1	Substitution - Missense(1)	p.G104W(1)	lung(1)								c.(325-327)Ggg>Agg		somatomedin B and thrombospondin, type 1 domain containing							65.0	76.0	73.0					8																	73993338		1995	4154	6149	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73993338C>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.325G>A	8.37:g.73993338C>T	ENSP00000297354:p.Gly109Arg					SBSPON_ENST00000519697.1_5'UTR	p.G109R	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			2	529	-			109			TSP type-1.		A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.325G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	33	5.250488	0.95305	.	.	ENSG00000164764	ENST00000297354	T	0.23950	1.88	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77480	-0.2572	10	0.87932	D	0	-18.7095	19.0932	0.93238	0.0:1.0:0.0:0.0	.	109	Q8IVN8	RPESP_HUMAN	R	109	ENSP00000297354:G109R	ENSP00000297354:G109R	G	-	1	0	C8orf84	74155892	1.000000	0.71417	0.910000	0.35882	0.991000	0.79684	7.070000	0.76763	2.510000	0.84645	0.650000	0.86243	GGG		0.647	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		35	51	0	0	0	1	0	35	51				
ATPAF1	64756	broad.mit.edu	37	1	47101574	47101574	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47101574G>T	ENST00000371937.4	-	9	965	c.861C>A	c.(859-861)acC>acA	p.T287T	ATPAF1_ENST00000329231.4_Silent_p.T242T|ATPAF1_ENST00000574428.1_Silent_p.T219T|ATPAF1_ENST00000576409.1_Silent_p.T310T|ATPAF1_ENST00000542495.1_Silent_p.T136T|ATPAF1_ENST00000532925.1_Silent_p.T199T	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	287					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					CTAACCCGTAGGTCTCTTTCC	0.443																																					Melanoma(138;107 1777 21672 30337 52312)	ENST00000576409.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(928-930)acC>acA		ATP synthase mitochondrial F1 complex assembly factor 1							225.0	225.0	225.0					1																	47101574		2203	4300	6503	SO:0001819	synonymous_variant	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47101574G>T	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.861C>A	1.37:g.47101574G>T						ATPAF1_ENST00000532925.1_Silent_p.T199T|ATPAF1_ENST00000574428.1_Silent_p.T219T|ATPAF1_ENST00000329231.4_Silent_p.T242T|ATPAF1_ENST00000542495.1_Silent_p.T136T|ATPAF1_ENST00000371937.4_Silent_p.T287T	p.T310T			Q5TC12	ATPF1_HUMAN			9	992	-	Acute lymphoblastic leukemia(166;0.155)		287					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Silent	SNP	ENST00000371937.4	37	c.930C>A		.	.	.	.	.	.	.	.	.	.	G	9.117	1.008078	0.19199	.	.	ENSG00000123472	ENST00000534216	.	.	.	6.02	4.12	0.48240	.	.	.	.	.	T	0.62356	0.2421	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58836	-0.7566	4	.	.	.	-3.0063	11.1531	0.48471	0.0:0.1249:0.6156:0.2595	.	.	.	.	H	142	.	.	P	-	2	0	ATPAF1	46874161	1.000000	0.71417	0.980000	0.43619	0.960000	0.62799	1.570000	0.36439	0.833000	0.34828	-0.156000	0.13503	CCT		0.443	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		18	216	1	0	5.03518e-11	1	6.25324e-11	18	216				
IGHV7-81	28378	broad.mit.edu	37	14	107283020	107283020	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107283020G>A	ENST00000390639.2	-	0	176									immunoglobulin heavy variable 7-81 (non-functional)																		CAGAAGCCTTGCAGGAGACCT	0.577																																						ENST00000390639.2																			0																				143.0	146.0	145.0					14																	107283020		1943	4139	6082			0							g.chr14:107283020G>A	Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107283020G>A														0	176	-									RNA	SNP	ENST00000390639.2	37																																																																																						0.577	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323700.2	NG_001019		14	106	0	0	0	1	0	14	106				
ZNF626	199777	broad.mit.edu	37	19	20808170	20808170	+	Silent	SNP	T	T	C	rs189613514		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808170T>C	ENST00000601440.1	-	4	659	c.513A>G	c.(511-513)aaA>aaG	p.K171K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATTTGAAAGGTTTTTTCCCAG	0.343																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(511-513)aaA>aaG		zinc finger protein 626							75.0	73.0	74.0					19																	20808170		2042	4227	6269	SO:0001819	synonymous_variant	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808170T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.513A>G	19.37:g.20808170T>C						CTC-513N18.7_ENST00000595094.1_lincRNA	p.K171K	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	659	-			171					Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	c.513A>G	CCDS42535.1																																																																																				0.343	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		19	28	0	0	0	1	0	19	28				
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468																																						ENST00000320816.6																			1	Substitution - Nonsense(1)	p.S324*(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(970-972)tCg>tTg		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							102.0	106.0	105.0					5																	39383090		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383090G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.971C>T	5.37:g.39383090G>A	ENSP00000313391:p.Ser324Leu					DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L	p.S324L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1438	-	all_lung(31;0.000197)		324					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.971C>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454341	0.12283	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.34275	1.41;1.37;1.37	5.73	-0.829	0.10796	.	0.998658	0.08105	N	0.997037	T	0.12092	0.0294	N	0.00677	-1.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.26408	T	0.33	-0.1136	11.3431	0.49543	0.6031:0.0:0.3969:0.0	.	324;303	P98082;P98082-3	DAB2_HUMAN;.	L	324;303;303	ENSP00000313391:S324L;ENSP00000439919:S303L;ENSP00000426245:S303L	ENSP00000313391:S324L	S	-	2	0	DAB2	39418847	0.972000	0.33761	0.997000	0.53966	0.662000	0.39071	0.570000	0.23653	-0.060000	0.13132	-1.004000	0.02495	TCG		0.468	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		30	64	0	0	0	1	0	30	64				
ARAP3	64411	broad.mit.edu	37	5	141041299	141041299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141041299G>A	ENST00000239440.4	-	21	3136	c.3071C>T	c.(3070-3072)cCg>cTg	p.P1024L	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.P686L|ARAP3_ENST00000508305.1_Missense_Mutation_p.P855L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1024	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTGACCCGCGGCAGGCAGCC	0.572																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3070-3072)cCg>cTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							82.0	89.0	87.0					5																	141041299		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041299G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3071C>T	5.37:g.141041299G>A	ENSP00000239440:p.Pro1024Leu					ARAP3_ENST00000508305.1_Missense_Mutation_p.P855L|ARAP3_ENST00000513878.1_Missense_Mutation_p.P686L|ARAP3_ENST00000512390.1_5'UTR	p.P1024L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			21	3136	-			1024			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3071C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508091	0.85282	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.28895	1.59;1.59;1.59	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.999	T	0.82289	-0.0531	10	0.87932	D	0	.	18.8077	0.92045	0.0:0.0:1.0:0.0	.	686;855;1024	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	L	855;1024;686	ENSP00000421826:P855L;ENSP00000239440:P1024L;ENSP00000421468:P686L	ENSP00000239440:P1024L	P	-	2	0	ARAP3	141021483	1.000000	0.71417	0.966000	0.40874	0.615000	0.37417	9.043000	0.93799	2.777000	0.95525	0.655000	0.94253	CCG		0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		6	90	0	0	0	1	0	6	90				
EPG5	57724	broad.mit.edu	37	18	43481096	43481096	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43481096T>G	ENST00000282041.5	-	26	4545	c.4511A>C	c.(4510-4512)gAg>gCg	p.E1504A	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1504					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGGGAGCCTCATGCTTCCG	0.488																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4510-4512)gAg>gCg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							62.0	68.0	66.0					18																	43481096		1974	4151	6125	SO:0001583	missense	57724				autophagy			g.chr18:43481096T>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4511A>C	18.37:g.43481096T>G	ENSP00000282041:p.Glu1504Ala					EPG5_ENST00000585906.1_5'UTR	p.E1504A	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			26	4545	-			1504					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4511A>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053439	0.36181	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11604	2.76	5.59	3.17	0.36434	.	.	.	.	.	T	0.11707	0.0285	L	0.50333	1.59	0.09310	N	1	B	0.15930	0.015	B	0.18561	0.022	T	0.22765	-1.0207	9	0.66056	D	0.02	-8.4389	8.2557	0.31756	0.0:0.2172:0.0:0.7828	.	1504	Q9HCE0	EPG5_HUMAN	A	1504;379	ENSP00000282041:E1504A	ENSP00000282041:E1504A	E	-	2	0	EPG5	41735094	0.930000	0.31532	0.005000	0.12908	0.971000	0.66376	2.930000	0.48924	0.394000	0.25230	0.460000	0.39030	GAG		0.488	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		12	42	0	0	0	1	0	12	42				
NCOA7	135112	broad.mit.edu	37	6	126210549	126210549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126210549C>A	ENST00000368357.3	+	10	1701	c.1349C>A	c.(1348-1350)gCt>gAt	p.A450D	NCOA7_ENST00000229634.9_Missense_Mutation_p.A335D|NCOA7_ENST00000392477.2_Missense_Mutation_p.A450D	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	450					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CGAAAGAAAGCTGAGTCACAA	0.458																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(1348-1350)gCt>gAt		nuclear receptor coactivator 7							59.0	64.0	62.0					6																	126210549		2203	4299	6502	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210549C>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1349C>A	6.37:g.126210549C>A	ENSP00000357341:p.Ala450Asp					NCOA7_ENST00000229634.9_Missense_Mutation_p.A335D|NCOA7_ENST00000392477.2_Missense_Mutation_p.A450D	p.A450D	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	10	1701	+			450					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.1349C>A	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.612379	0.00835	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.30448	2.75;2.75;2.75;1.53	5.28	1.34	0.21922	.	0.804534	0.11821	N	0.526187	T	0.03564	0.0102	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.45760	-0.9239	10	0.09843	T	0.71	-2.6271	4.0643	0.09852	0.2298:0.5302:0.1068:0.1331	.	439;439;450	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	D	450;450;335;248	ENSP00000357341:A450D;ENSP00000376269:A450D;ENSP00000229634:A335D;ENSP00000389186:A248D	ENSP00000229634:A335D	A	+	2	0	NCOA7	126252242	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.337000	0.19841	-0.142000	0.11354	-0.797000	0.03246	GCT		0.458	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		26	31	1	0	4.59853e-10	1	5.63411e-10	26	31				
SBF1	6305	broad.mit.edu	37	22	50900823	50900823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50900823G>A	ENST00000390679.3	-	19	2391	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	SBF1_ENST00000380817.3_Missense_Mutation_p.T736I|SBF1_ENST00000348911.6_Missense_Mutation_p.T737I			O95248	MTMR5_HUMAN	SET binding factor 1	736					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACTCAGAGTTGGCCACAA	0.627																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2206-2208)aCt>aTt		SET binding factor 1							68.0	77.0	74.0					22																	50900823		2159	4269	6428	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900823G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2207C>T	22.37:g.50900823G>A	ENSP00000375097:p.Thr736Ile					SBF1_ENST00000390679.3_Missense_Mutation_p.T736I|SBF1_ENST00000348911.6_Missense_Mutation_p.T737I	p.T736I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	19	2390	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	736					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2207C>T		.	.	.	.	.	.	.	.	.	.	G	14.70	2.614637	0.46631	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.50813	0.73;0.73;0.73	4.39	2.26	0.28386	.	0.847691	0.10794	N	0.633459	T	0.57330	0.2046	M	0.66939	2.045	0.50632	D	0.999889	P;P;P	0.47962	0.633;0.617;0.903	P;B;B	0.51974	0.686;0.173;0.406	T	0.56245	-0.8011	10	0.72032	D	0.01	.	10.4199	0.44344	0.1644:0.0:0.8356:0.0	.	736;737;736	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	I	736;737;747;746;736	ENSP00000370196:T736I;ENSP00000252027:T737I;ENSP00000375097:T736I	ENSP00000336522:T746I	T	-	2	0	SBF1	49247689	0.998000	0.40836	0.071000	0.20095	0.940000	0.58332	2.961000	0.49168	0.483000	0.27608	0.561000	0.74099	ACT		0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				14	77	0	0	0	1	0	14	77				
ZNF808	388558	broad.mit.edu	37	19	53050821	53050821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53050821C>A	ENST00000359798.4	+	4	300	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGGAAATTCCTGAACCCTG	0.453																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(118-120)ttC>ttA		zinc finger protein 808							127.0	133.0	131.0					19																	53050821		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53050821C>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.120C>A	19.37:g.53050821C>A	ENSP00000352846:p.Phe40Leu						p.F40L	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	4	300	+			40			KRAB.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.120C>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	9.422	1.083351	0.20309	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000461779;ENST00000461321	T;T;T;T	0.01347	4.99;4.99;4.99;4.99	2.29	1.23	0.21249	Krueppel-associated box (4);	.	.	.	.	T	0.00608	0.0020	N	0.01686	-0.76	0.09310	N	1	B	0.17852	0.024	B	0.21360	0.034	T	0.46373	-0.9196	9	0.06494	T	0.89	.	5.2829	0.15686	0.0:0.695:0.0:0.305	.	40	Q8N4W9	ZN808_HUMAN	L	40	ENSP00000352846:F40L;ENSP00000419291:F40L;ENSP00000417727:F40L;ENSP00000418696:F40L	ENSP00000352846:F40L	F	+	3	2	ZNF808	57742633	0.302000	0.24454	0.015000	0.15790	0.051000	0.14879	0.361000	0.20267	0.161000	0.19458	0.174000	0.16983	TTC		0.453	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		54	107	1	0	1.38909e-20	1	1.82417e-20	54	107				
GALNT14	79623	broad.mit.edu	37	2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T	rs200913085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	181	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(541-543)cGg>cAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							59.0	59.0	59.0					2																	31178596		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31178596C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.542G>A	2.37:g.31178596C>T	ENSP00000288988:p.Arg181Gln					GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q	p.R181Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			6	1181	-	Acute lymphoblastic leukemia(172;0.155)		181			Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.542G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	36	5.935953	0.97122	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.61	5.61	0.85477	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.86953	2.85	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	1.0;1.0;0.996;0.998;1.0;0.998	D	0.85433	0.1150	10	0.87932	D	0	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	146;146;148;186;181;161	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	Q	181;186;161;148;146;148	ENSP00000288988:R181Q;ENSP00000314500:R186Q;ENSP00000385435:R161Q;ENSP00000348497:R148Q;ENSP00000415514:R146Q;ENSP00000406399:R148Q	ENSP00000314500:R186Q	R	-	2	0	GALNT14	31032100	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.428000	0.80296	2.656000	0.90262	0.561000	0.74099	CGG		0.602	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		21	36	0	0	0	1	0	21	36				
SLIT1	6585	broad.mit.edu	37	10	98824567	98824567	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824567C>A	ENST00000266058.4	-	6	797	c.552G>T	c.(550-552)gaG>gaT	p.E184D	SLIT1_ENST00000371041.3_Missense_Mutation_p.E184D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E184D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	184					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTTACAGCACCTCCAGCCCCC	0.592																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(550-552)gaG>gaT		slit homolog 1 (Drosophila)							160.0	148.0	152.0					10																	98824567		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98824567C>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.552G>T	10.37:g.98824567C>A	ENSP00000266058:p.Glu184Asp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.E184D|SLIT1_ENST00000371070.4_Missense_Mutation_p.E184D	p.E184D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	6	797	-		Colorectal(252;0.162)	184					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.552G>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919647	0.73098	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.57	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.76913	-0.2783	10	0.87932	D	0	.	10.2284	0.43241	0.0:0.7846:0.0:0.2154	.	184;184	E7EWQ8;O75093	.;SLIT1_HUMAN	D	184;184;160;184;167;160;184	ENSP00000266058:E184D;ENSP00000360109:E184D;ENSP00000315005:E167D;ENSP00000360080:E184D	ENSP00000266058:E184D	E	-	3	2	SLIT1	98814557	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.826000	0.27407	1.273000	0.44346	0.491000	0.48974	GAG		0.592	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		6	112	1	0	5.18039e-06	1	5.91835e-06	6	112				
TTN	7273	broad.mit.edu	37	2	179409203	179409203	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179409203A>G	ENST00000591111.1	-	295	91054	c.90830T>C	c.(90829-90831)gTt>gCt	p.V30277A	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22853A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22978A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29350A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V31918A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23045A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30277	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATCCACAACTCTTGGAGC	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95752-95754)gTt>gCt		titin							120.0	108.0	112.0					2																	179409203		1904	4120	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179409203A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90830T>C	2.37:g.179409203A>G	ENSP00000465570:p.Val30277Ala					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22853A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29350A|TTN_ENST00000359218.5_Missense_Mutation_p.V22978A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23045A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30277A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.V31918A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		345	95977	-			30277			Ig-like 141.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95753T>C		.	.	.	.	.	.	.	.	.	.	A	17.58	3.424937	0.62733	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52948	0.1766	L	0.45051	1.395	0.51767	D	0.999933	P;P;P;P	0.39044	0.656;0.656;0.656;0.656	B;B;B;B	0.42112	0.376;0.376;0.376;0.298	T	0.56378	-0.7989	9	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	22853;22978;23045;30277	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	29350;22853;23045;22978;22850	ENSP00000343764:V29350A;ENSP00000434586:V22853A;ENSP00000340554:V23045A;ENSP00000352154:V22978A	ENSP00000340554:V23045A	V	-	2	0	TTN	179117449	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	92	0	0	0	1	0	10	92				
SEMG1	6406	broad.mit.edu	37	20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43836470G>A	ENST00000372781.3	+	2	589	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	178	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(532-534)Gtc>Atc		semenogelin I							81.0	76.0	78.0					20																	43836470		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836470G>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.532G>A	20.37:g.43836470G>A	ENSP00000361867:p.Val178Ile					SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	p.V178I	NM_003007.3	NP_002998.1					2	589	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.532G>A	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146628	0.09134	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08102	3.13;3.13	1.02	-2.04	0.07343	.	.	.	.	.	T	0.10895	0.0266	L	0.57536	1.79	0.09310	N	1	P;B;D	0.53745	0.941;0.14;0.962	B;B;P	0.48770	0.304;0.062;0.589	T	0.19257	-1.0311	9	0.28530	T	0.3	.	6.5467	0.22410	0.0:0.3717:0.6283:0.0	.	178;178;178	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	I	178	ENSP00000244069:V178I;ENSP00000361867:V178I	ENSP00000244069:V178I	V	+	1	0	SEMG1	43269884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.602000	0.05680	-0.657000	0.05373	-0.357000	0.07601	GTC		0.423	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		8	80	0	0	0	1	0	8	80				
ZNF791	163049	broad.mit.edu	37	19	12740023	12740023	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12740023C>A	ENST00000343325.4	+	4	1842	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Silent_p.A528A|ZNF791_ENST00000540038.1_Silent_p.A451A|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTGGAAAAGCCTTCAGTGTGT	0.343																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(1678-1680)gcC>gcA		zinc finger protein 791							70.0	74.0	72.0					19																	12740023		2203	4300	6503	SO:0001819	synonymous_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12740023C>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1680C>A	19.37:g.12740023C>A						ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.A528A|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Silent_p.A451A	p.A560A	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	1842	+			560					B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	c.1680C>A	CCDS12273.1																																																																																				0.343	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		5	70	1	0	3.59834e-05	1	4.01776e-05	5	70				
BEND2	139105	broad.mit.edu	37	X	18195787	18195787	+	Missense_Mutation	SNP	C	C	T	rs146293624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18195787C>T	ENST00000380033.4	-	10	1664	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	BEND2_ENST00000380030.3_Missense_Mutation_p.R420H	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	511	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAACAAAATACGAACCAAGTA	0.428																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1531-1533)cGt>cAt		BEN domain containing 2		C	HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	268.0	253.0	258.0		1259,1532	-1.4	0.0	X	dbSNP_134	258	0,6728		0,0,2428,1872	no	missense,missense	BEND2	NM_001184767.1,NM_153346.4	29,29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging,probably-damaging	420/646,511/800	18195787	1,10562	2203	4300	6503	SO:0001583	missense	139105							g.chrX:18195787C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1532G>A	X.37:g.18195787C>T	ENSP00000369372:p.Arg511His					BEND2_ENST00000380030.3_Missense_Mutation_p.R420H	p.R511H	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			10	1664	-			511			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1532G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	3.390	-0.124528	0.06795	2.61E-4	0.0	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.46451	0.87;0.87	5.39	-1.37	0.09056	BEN domain (2);	0.479924	0.19579	N	0.110917	T	0.22475	0.0542	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.007	T	0.08932	-1.0698	10	0.34782	T	0.22	0.0268	5.3718	0.16144	0.0:0.3379:0.2449:0.4171	.	420;511	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	H	511;420	ENSP00000369372:R511H;ENSP00000369369:R420H	ENSP00000369369:R420H	R	-	2	0	BEND2	18105708	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	-0.077000	0.11394	-0.878000	0.04007	-0.853000	0.03031	CGT		0.428	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		159	228	0	0	0	1	0	159	228				
GPR139	124274	broad.mit.edu	37	16	20043451	20043451	+	Missense_Mutation	SNP	G	G	A	rs144787739	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043451G>A	ENST00000570682.1	-	2	968	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	223					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGTCTTCCCCGTGGAGTAGCC	0.527																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(667-669)aCg>aTg		G protein-coupled receptor 139							79.0	82.0	81.0					16																	20043451		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043451G>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.668C>T	16.37:g.20043451G>A	ENSP00000458791:p.Thr223Met						p.T223M	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	968	-			223					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.668C>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996335	0.54147	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.049812	0.85682	D	0.000000	T	0.36635	0.0974	N	0.19112	0.55	0.80722	D	1	P	0.43314	0.803	B	0.30782	0.12	T	0.35847	-0.9772	9	0.48119	T	0.1	-18.7989	18.8873	0.92383	0.0:0.0:1.0:0.0	.	223	Q6DWJ6	GP139_HUMAN	M	223	.	ENSP00000370779:T223M	T	-	2	0	GPR139	19950952	1.000000	0.71417	0.956000	0.39512	0.988000	0.76386	9.230000	0.95299	2.708000	0.92522	0.655000	0.94253	ACG		0.527	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		25	34	0	0	0	1	0	25	34				
EFNA1	1942	broad.mit.edu	37	1	155105979	155105979	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155105979C>T	ENST00000368407.3	+	3	907	c.389C>T	c.(388-390)tCc>tTc	p.S130F	SLC50A1_ENST00000303343.8_5'Flank|EFNA1_ENST00000469878.1_3'UTR|SLC50A1_ENST00000484157.1_5'Flank|EFNA1_ENST00000368406.2_Intron|SLC50A1_ENST00000368404.4_5'Flank|SLC50A1_ENST00000368401.5_5'Flank	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	130	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATCTTGCAGCCAAACCCATC	0.507																																						ENST00000368407.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5						c.e3-1		ephrin-A1							100.0	96.0	97.0					1																	155105979		2203	4300	6503	SO:0001630	splice_region_variant	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155105979C>T		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.389-1C>T	1.37:g.155105979C>T						EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Intron	p.S130_splice	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	907	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		130					D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Splice_Site	SNP	ENST00000368407.3	37	c.388_splice	CCDS1091.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406501	0.83230	.	.	ENSG00000169242	ENST00000368407	D	0.95447	-3.71	5.11	5.11	0.69529	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97869	1.0285	9	.	.	.	.	16.4251	0.83812	0.0:1.0:0.0:0.0	.	130	P20827	EFNA1_HUMAN	F	130	ENSP00000357392:S130F	.	S	+	2	0	EFNA1	153372603	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.167000	0.71902	2.826000	0.97356	0.561000	0.74099	TCC		0.507	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428	Missense_Mutation	22	42	0	0	0	1	0	22	42				
NIPA2	81614	broad.mit.edu	37	15	23006491	23006491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23006491C>T	ENST00000337451.3	-	8	1425	c.813G>A	c.(811-813)tgG>tgA	p.W271*	NIPA2_ENST00000539711.2_Nonsense_Mutation_p.W252*|NIPA2_ENST00000398013.3_Nonsense_Mutation_p.W271*|NIPA2_ENST00000398014.2_Nonsense_Mutation_p.W271*|NIPA2_ENST00000359727.4_Nonsense_Mutation_p.W252*	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	271						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCATATCTTGCCACTCCTTAA	0.373																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(811-813)tgG>tgA		non imprinted in Prader-Willi/Angelman syndrome 2							91.0	97.0	95.0					15																	23006491		2203	4300	6503	SO:0001587	stop_gained	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006491C>T	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.813G>A	15.37:g.23006491C>T	ENSP00000337618:p.Trp271*					NIPA2_ENST00000398014.2_Nonsense_Mutation_p.W271*|NIPA2_ENST00000539711.2_Nonsense_Mutation_p.W252*|NIPA2_ENST00000398013.3_Nonsense_Mutation_p.W271*|NIPA2_ENST00000359727.4_Nonsense_Mutation_p.W252*	p.W271*	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1425	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	271					F8W7Y8|Q96F03|Q9BVS2	Nonsense_Mutation	SNP	ENST00000337451.3	37	c.813G>A	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	37	6.631726	0.97722	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.701	19.8379	0.96666	0.0:1.0:0.0:0.0	.	.	.	.	X	271;271;252;271;252	.	ENSP00000337618:W271X	W	-	3	0	NIPA2	20557932	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.990000	0.70595	2.765000	0.95021	0.655000	0.94253	TGG		0.373	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		39	69	0	0	0	1	0	39	69				
MSH6	2956	broad.mit.edu	37	2	48010413	48010413	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48010413C>A	ENST00000234420.5	+	1	193	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	MSH6_ENST00000540021.1_Missense_Mutation_p.S14Y|MSH6_ENST00000538136.1_5'Flank|RNU6-688P_ENST00000516063.1_RNA	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	14					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCCAAGTCTCCGGCGCTG	0.672			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(40-42)tCt>tAt	Mismatch excision repair (MMR)	mutS homolog 6							33.0	30.0	31.0					2																	48010413		2194	4285	6479	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48010413C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.41C>A	2.37:g.48010413C>A	ENSP00000234420:p.Ser14Tyr					MSH6_ENST00000540021.1_Missense_Mutation_p.S14Y	p.S14Y	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	193	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	14					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.41C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361265	0.61403	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000540021	D;D	0.87179	-2.05;-2.22	4.64	3.7	0.42460	.	0.280963	0.34676	N	0.003776	D	0.83427	0.5252	L	0.29908	0.895	0.80722	D	1	P;B;P	0.39883	0.567;0.38;0.693	B;B;B	0.43783	0.248;0.135;0.431	D	0.86428	0.1759	10	0.87932	D	0	-10.0552	15.0686	0.72017	0.0:0.8437:0.1563:0.0	.	14;14;14	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	Y	14	ENSP00000234420:S14Y;ENSP00000446475:S14Y	ENSP00000234420:S14Y	S	+	2	0	MSH6	47863917	0.953000	0.32496	0.998000	0.56505	0.881000	0.50899	2.295000	0.43576	2.095000	0.63458	0.313000	0.20887	TCT		0.672	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		9	31	1	0	0.000442599	1	0.00048047	9	31				
FUBP1	8880	broad.mit.edu	37	1	78433850	78433850	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78433850G>A	ENST00000370768.2	-	3	330	c.249C>T	c.(247-249)gaC>gaT	p.D83D	FUBP1_ENST00000370767.1_Splice_Site_p.D83D|FUBP1_ENST00000436586.2_Splice_Site_p.D104D	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATACTTACAGTCATTTTGAG	0.318			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		1	Unknown(1)	p.?(1)	central_nervous_system(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e3+1		far upstream element (FUSE) binding protein 1							91.0	90.0	90.0					1																	78433850		2202	4293	6495	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78433850G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.250+1C>T	1.37:g.78433850G>A						FUBP1_ENST00000370768.2_Splice_Site_p.D83_splice|FUBP1_ENST00000436586.2_Splice_Site_p.D104_splice	p.D83_splice			Q96AE4	FUBP1_HUMAN			3	336	-			83					Q12828	Splice_Site	SNP	ENST00000370768.2	37	c.250_splice	CCDS683.1																																																																																				0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Silent	30	27	0	0	0	1	0	30	27				
CYP26B1	56603	broad.mit.edu	37	2	72360435	72360435	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360435T>C	ENST00000001146.2	-	5	1066	c.863A>G	c.(862-864)gAc>gGc	p.D288G	CYP26B1_ENST00000546307.1_Splice_Site_p.D213G|CYP26B1_ENST00000412253.1_Splice_Site_p.D97G	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	288					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGGGTCCCGTCCTGCAGGGC	0.637																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.e5-1		cytochrome P450, family 26, subfamily B, polypeptide 1							22.0	25.0	24.0					2																	72360435		2170	4243	6413	SO:0001630	splice_region_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360435T>C		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.862-1A>G	2.37:g.72360435T>C						CYP26B1_ENST00000412253.1_Splice_Site_p.D97_splice|CYP26B1_ENST00000546307.1_Splice_Site_p.D213_splice	p.D288_splice	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			5	1066	-			288					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Splice_Site	SNP	ENST00000001146.2	37	c.861_splice	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.972249	0.92919	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.68025	-0.3;-0.3;-0.3	5.35	5.35	0.76521	.	0.046963	0.85682	D	0.000000	T	0.66761	0.2822	L	0.45285	1.41	0.58432	D	0.999999	B;P;P	0.37731	0.447;0.607;0.576	B;B;P	0.44673	0.411;0.378;0.457	T	0.70745	-0.4788	10	0.87932	D	0	-0.4987	14.465	0.67477	0.0:0.0:0.0:1.0	.	213;271;288	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	G	288;97;213	ENSP00000001146:D288G;ENSP00000401465:D97G;ENSP00000443304:D213G	ENSP00000001146:D288G	D	-	2	0	CYP26B1	72213943	1.000000	0.71417	0.966000	0.40874	0.901000	0.52897	8.040000	0.89188	2.169000	0.68431	0.460000	0.39030	GAC		0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885	Missense_Mutation	6	7	0	0	0	1	0	6	7				
HORMAD1	84072	broad.mit.edu	37	1	150679047	150679047	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150679047T>C	ENST00000361824.2	-	10	891	c.786A>G	c.(784-786)gaA>gaG	p.E262E	HORMAD1_ENST00000368993.2_Silent_p.E262E|HORMAD1_ENST00000368995.4_Silent_p.E182E|HORMAD1_ENST00000322343.7_Silent_p.E255E	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	262					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCTCCTGTTCATCTTCTA	0.303																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(784-786)gaA>gaG		HORMA domain containing 1							152.0	145.0	147.0					1																	150679047		2203	4299	6502	SO:0001819	synonymous_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679047T>C	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.786A>G	1.37:g.150679047T>C						HORMAD1_ENST00000322343.7_Silent_p.E255E|HORMAD1_ENST00000368995.4_Silent_p.E182E|HORMAD1_ENST00000361824.2_Silent_p.E262E	p.E262E			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	891	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		262					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	c.786A>G	CCDS967.1																																																																																				0.303	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		4	80	0	0	0	1	0	4	80				
TMEM176B	28959	broad.mit.edu	37	7	150490279	150490279	+	Missense_Mutation	SNP	C	C	T	rs144557912		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490279C>T	ENST00000447204.2	-	5	869	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCTGAGCGATCACACAC	0.507																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(496-498)cGc>cAc		transmembrane protein 176B		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	161.0	133.0	142.0		497,497,386,497	-7.0	0.0	7	dbSNP_134	142	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	TMEM176B	NM_001101311.1,NM_001101312.1,NM_001101314.1,NM_014020.3	29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	166/271,166/271,129/234,166/271	150490279	2,13004	2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490279C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.497G>A	7.37:g.150490279C>T	ENSP00000410269:p.Arg166His					TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H	p.R166H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	869	-			166					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.497G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	1.179	-0.638743	0.03557	0.0	2.33E-4	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.09163	3.17;3.17;3.17;3.17;3.17;3.01	3.49	-6.97	0.01616	.	4.208090	0.00597	N	0.000369	T	0.05777	0.0151	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.31223	-0.9951	10	0.15066	T	0.55	9.0868	4.4073	0.11416	0.0954:0.3083:0.4169:0.1794	.	129;166	E9PAV4;Q3YBM2	.;T176B_HUMAN	H	166;166;166;166;166;129;166	ENSP00000419258:R166H;ENSP00000318409:R166H;ENSP00000410269:R166H;ENSP00000413531:R166H;ENSP00000397810:R166H;ENSP00000404831:R129H	ENSP00000318409:R166H	R	-	2	0	TMEM176B	150121212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.707000	0.01893	-2.853000	0.00330	-1.694000	0.00725	CGC		0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		46	41	0	0	0	1	0	46	41				
GABBR1	2550	broad.mit.edu	37	6	29577076	29577076	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29577076C>T	ENST00000377034.4	-	15	2124	c.1789G>A	c.(1789-1791)Gtt>Att	p.V597I	GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Missense_Mutation_p.V480I|GABBR1_ENST00000355973.3_Missense_Mutation_p.V480I|GABBR1_ENST00000377016.4_Missense_Mutation_p.V535I	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	597					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CTGGAGAGAACTGAGACGGAG	0.517																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1789-1791)Gtt>Att		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						121.0	96.0	105.0					6																	29577076		1511	2709	4220	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577076C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1789G>A	6.37:g.29577076C>T	ENSP00000366233:p.Val597Ile					GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Missense_Mutation_p.V480I|GABBR1_ENST00000355973.3_Missense_Mutation_p.V480I|GABBR1_ENST00000377016.4_Missense_Mutation_p.V535I	p.V597I	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			15	2124	-			597					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1789G>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160390	0.94727	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;T	0.83075	-1.68;-1.6;-1.68;-0.48	5.93	5.93	0.95920	.	0.063060	0.64402	D	0.000007	D	0.84624	0.5513	L	0.43152	1.355	0.80722	D	1	D;D;D	0.60160	0.987;0.978;0.972	P;P;P	0.60789	0.879;0.743;0.675	D	0.84723	0.0741	10	0.54805	T	0.06	0.006	17.8477	0.88736	0.0:1.0:0.0:0.0	.	535;597;480	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	I	480;535;480;597	ENSP00000348248:V480I;ENSP00000366215:V535I;ENSP00000366211:V480I;ENSP00000366233:V597I	ENSP00000348248:V480I	V	-	1	0	GABBR1	29685055	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.520000	0.81821	2.826000	0.97356	0.655000	0.94253	GTT		0.517	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			17	34	0	0	0	1	0	17	34				
MAP2K3	5606	broad.mit.edu	37	17	21205482	21205482	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21205482A>G	ENST00000342679.4	+	6	676	c.427A>G	c.(427-429)Atg>Gtg	p.M143V	MAP2K3_ENST00000316920.6_Missense_Mutation_p.M114V|MAP2K3_ENST00000361818.5_Missense_Mutation_p.M114V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CATGGAGCTCATGGACACATC	0.577																																						ENST00000342679.4																			0											c.(427-429)Atg>Gtg		mitogen-activated protein kinase kinase 3							128.0	101.0	110.0					17																	21205482		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21205482A>G	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.427A>G	17.37:g.21205482A>G	ENSP00000345083:p.Met143Val					MAP2K3_ENST00000361818.5_Missense_Mutation_p.M114V|MAP2K3_ENST00000316920.6_Missense_Mutation_p.M114V	p.M143V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	6	676	+			143			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.427A>G	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368247	0.42003	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;D	0.89270	1.11;1.11;-2.49	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88872	0.6555	L	0.58969	1.84	0.80722	D	1	B	0.27380	0.177	B	0.35655	0.207	D	0.88160	0.2857	10	0.87932	D	0	-57.0008	15.046	0.71827	1.0:0.0:0.0:0.0	.	143	P46734	MP2K3_HUMAN	V	143;114;114;114;147	ENSP00000345083:M143V;ENSP00000355081:M114V;ENSP00000434068:M114V	ENSP00000319139:M147V	M	+	1	0	MAP2K3	21146075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.219000	0.95173	1.942000	0.56320	0.533000	0.62120	ATG		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		4	35	0	0	0	1	0	4	35				
SPTBN1	6711	broad.mit.edu	37	2	54886386	54886386	+	Silent	SNP	C	C	T	rs372899977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54886386C>T	ENST00000356805.4	+	31	6620	c.6339C>T	c.(6337-6339)gcC>gcT	p.A2113A	SPTBN1_ENST00000333896.5_Silent_p.A2100A|AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2113					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGAGGAAGCCGAGTCCCAGC	0.582																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6298-6300)gcC>gcT		spectrin, beta, non-erythrocytic 1		C	,	1,4405	2.1+/-5.4	0,1,2202	87.0	98.0	95.0		6339,6300	-5.5	0.0	2		95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2113/2365,2100/2156	54886386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54886386C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6339C>T	2.37:g.54886386C>T						SPTBN1_ENST00000356805.4_Silent_p.A2113A	p.A2100A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		30	6685	+			2113					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.6300C>T	CCDS33198.1																																																																																				0.582	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			73	98	0	0	0	1	0	73	98				
FIZ1	84922	broad.mit.edu	37	19	56103882	56103882	+	Silent	SNP	G	G	A	rs200475461		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56103882G>A	ENST00000221665.3	-	3	1514	c.1425C>T	c.(1423-1425)tgC>tgT	p.C475C		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	475					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCCTTGCCGCAGATGTGGC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		11773	0.001		0.0	False		,,,				2504	0.0					ENST00000221665.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(1423-1425)tgC>tgT		FLT3-interacting zinc finger 1							25.0	22.0	23.0					19																	56103882		2201	4297	6498	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56103882G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.1425C>T	19.37:g.56103882G>A							p.C475C	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	1514	-			475					A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.1425C>T	CCDS12928.1																																																																																				0.672	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		5	5	0	0	0	1	0	5	5				
PTPRM	5797	broad.mit.edu	37	18	8069839	8069839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8069839C>T	ENST00000332175.8	+	8	2325	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	PTPRM_ENST00000400053.4_Nonsense_Mutation_p.R368*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.R430*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.R430*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.R217*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	430	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGAACAAGTGCGAGAAGAAGT	0.443																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1288-1290)Cga>Tga		protein tyrosine phosphatase, receptor type, M							143.0	106.0	119.0					18																	8069839		2203	4300	6503	SO:0001587	stop_gained	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8069839C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1288C>T	18.37:g.8069839C>T	ENSP00000331418:p.Arg430*					PTPRM_ENST00000444013.1_Nonsense_Mutation_p.R217*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.R430*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.R430*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.R368*	p.R430*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			8	2325	+		Colorectal(10;0.234)	430			Fibronectin type-III 2.		A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP	ENST00000332175.8	37	c.1288C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	46	12.445841	0.99668	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.52	3.74	0.42951	.	0.133655	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	8.1416	0.31086	0.4171:0.5075:0.0:0.0754	.	.	.	.	X	430;430;368;217	.	ENSP00000331418:R430X	R	+	1	2	PTPRM	8059839	0.973000	0.33851	0.400000	0.26346	0.887000	0.51463	1.671000	0.37513	0.708000	0.31955	0.655000	0.94253	CGA		0.443	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			8	15	0	0	0	1	0	8	15				
UBQLN1	29979	broad.mit.edu	37	9	86297963	86297963	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86297963A>G	ENST00000376395.4	-	3	874	c.351T>C	c.(349-351)gcT>gcC	p.A117A	UBQLN1_ENST00000257468.7_Silent_p.A117A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	117					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTGTTTGCTGAGCTGAATGAT	0.408																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(349-351)gcT>gcC		ubiquilin 1							158.0	145.0	149.0					9																	86297963		2203	4300	6503	SO:0001819	synonymous_variant	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86297963A>G	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.351T>C	9.37:g.86297963A>G						UBQLN1_ENST00000257468.7_Silent_p.A117A	p.A117A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			3	874	-			117					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Silent	SNP	ENST00000376395.4	37	c.351T>C	CCDS6663.1																																																																																				0.408	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		6	74	0	0	0	1	0	6	74				
BCL11B	64919	broad.mit.edu	37	14	99642372	99642372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99642372C>T	ENST00000357195.3	-	4	810	c.801G>A	c.(799-801)ccG>ccA	p.P267P	BCL11B_ENST00000345514.2_Silent_p.P196P|BCL11B_ENST00000443726.2_Silent_p.P73P	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	267					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCGAGCGGCGGCGGGATGG	0.711			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(586-588)ccG>ccA		B-cell CLL/lymphoma 11B (zinc finger protein)							6.0	9.0	8.0					14																	99642372		2148	4158	6306	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99642372C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.801G>A	14.37:g.99642372C>T						BCL11B_ENST00000357195.3_Silent_p.P267P|BCL11B_ENST00000443726.2_Silent_p.P73P	p.P196P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	854	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	267					Q9H162	Silent	SNP	ENST00000357195.3	37	c.588G>A	CCDS9950.1																																																																																				0.711	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	7	0	0	0	1	0	3	7				
INPP5D	3635	broad.mit.edu	37	2	234113059	234113059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234113059G>A	ENST00000359570.5	+	28	3227	c.3227G>A	c.(3226-3228)tGc>tAc	p.C1076Y	INPP5D_ENST00000455936.2_Missense_Mutation_p.C840Y|INPP5D_ENST00000450745.1_Missense_Mutation_p.C840Y|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1088	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTTCACGTGCTCATCCTCT	0.721																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(3226-3228)tGc>tAc		inositol polyphosphate-5-phosphatase, 145kDa							8.0	11.0	10.0					2																	234113059		1863	4053	5916	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234113059G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3227G>A	2.37:g.234113059G>A	ENSP00000352575:p.Cys1076Tyr					INPP5D_ENST00000450745.1_Missense_Mutation_p.840_840insY|INPP5D_ENST00000455936.2_Missense_Mutation_p.840_840insY	p.1076_1076insY			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	28	3227	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.3227G>A		.	.	.	.	.	.	.	.	.	.	G	16.35	3.098421	0.56183	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.97665	-4.36;-4.48;-4.48;-4.48;-4.48;-4.48	5.11	3.26	0.37387	.	0.208186	0.43416	N	0.000561	D	0.97626	0.9222	.	.	.	0.32711	N	0.511563	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.96641	0.9474	9	0.66056	D	0.02	.	5.0223	0.14367	0.0809:0.1455:0.6232:0.1504	.	1087;1088	Q92835-2;Q92835	.;SHIP1_HUMAN	Y	1076;840;840;709;709;709	ENSP00000352575:C1076Y;ENSP00000407916:C840Y;ENSP00000404610:C840Y;ENSP00000400151:C709Y;ENSP00000397421:C709Y;ENSP00000405338:C709Y	ENSP00000352575:C1076Y	C	+	2	0	INPP5D	233777798	1.000000	0.71417	0.810000	0.32431	0.879000	0.50718	2.699000	0.47077	0.618000	0.30179	0.655000	0.94253	TGC		0.721	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		7	18	0	0	0	1	0	7	18				
DDHD2	23259	broad.mit.edu	37	8	38090666	38090666	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38090666T>G	ENST00000397166.2	+	2	679	c.154T>G	c.(154-156)Tct>Gct	p.S52A	DDHD2_ENST00000520272.2_Missense_Mutation_p.S52A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	52	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GATAATAGATTCTAAGGAGAC	0.403																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(154-156)Tct>Gct		DDHD domain containing 2							97.0	94.0	95.0					8																	38090666		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38090666T>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.154T>G	8.37:g.38090666T>G	ENSP00000380352:p.Ser52Ala					DDHD2_ENST00000520272.2_Missense_Mutation_p.S52A	p.S52A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		2	679	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	52			WWE.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.154T>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	T	9.190	1.025892	0.19512	.	.	ENSG00000085788	ENST00000527834;ENST00000397166;ENST00000533100;ENST00000528358;ENST00000532222;ENST00000520272	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.86	4.67	0.58626	WWE domain (2);	0.510818	0.20126	N	0.098681	T	0.21267	0.0512	L	0.39020	1.185	0.09310	N	0.99999	B;B	0.28128	0.1;0.201	B;B	0.31442	0.098;0.13	T	0.27226	-1.0080	10	0.10377	T	0.69	-7.7019	7.007	0.24842	0.1389:0.0:0.2887:0.5724	.	52;52	O94830;E9PKE6	DDHD2_HUMAN;.	A	52	ENSP00000432433:S52A;ENSP00000380352:S52A;ENSP00000432678:S52A;ENSP00000433118:S52A;ENSP00000433578:S52A;ENSP00000429932:S52A	ENSP00000380352:S52A	S	+	1	0	DDHD2	38209823	0.084000	0.21492	0.982000	0.44146	0.998000	0.95712	1.305000	0.33493	1.008000	0.39264	0.533000	0.62120	TCT		0.403	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		25	42	0	0	0	1	0	25	42				
CXorf65	158830	broad.mit.edu	37	X	70325979	70325979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70325979C>T	ENST00000374251.5	-	3	169	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	41										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TCACACAAATCGATGGTGTCT	0.473																																						ENST00000374251.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.(121-123)Gat>Aat		chromosome X open reading frame 65							137.0	110.0	119.0					X																	70325979		2203	4300	6503	SO:0001583	missense	158830							g.chrX:70325979C>T	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.121G>A	X.37:g.70325979C>T	ENSP00000363369:p.Asp41Asn					CXorf65_ENST00000485951.1_5'UTR	p.D41N			A6NEN9	CX065_HUMAN			3	168	-			41						Missense_Mutation	SNP	ENST00000374251.5	37	c.121G>A	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356940	0.82243	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.62364	0.03;0.06	5.01	5.01	0.66863	.	0.893166	0.09754	N	0.760242	T	0.76033	0.3931	L	0.49126	1.545	0.43667	D	0.996092	D	0.89917	1.0	D	0.91635	0.999	T	0.71951	-0.4437	10	0.87932	D	0	.	14.1533	0.65401	0.0:1.0:0.0:0.0	.	41	A6NEN9	CX065_HUMAN	N	41	ENSP00000363369:D41N;ENSP00000411354:D41N	ENSP00000363369:D41N	D	-	1	0	CXorf65	70242704	1.000000	0.71417	0.991000	0.47740	0.768000	0.43524	3.783000	0.55409	2.312000	0.78011	0.600000	0.82982	GAT		0.473	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		22	22	0	0	0	1	0	22	22				
KCNJ2	3759	broad.mit.edu	37	17	68172103	68172103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68172103C>T	ENST00000243457.3	+	2	1306	c.923C>T	c.(922-924)aCg>aTg	p.T308M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.T308M	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	308					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.T308M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACTGCCATGACGACACAGTGC	0.463																																						ENST00000243457.3																			1	Substitution - Missense(1)	p.T308M(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(922-924)aCg>aTg		potassium inwardly-rectifying channel, subfamily J, member 2							63.0	65.0	65.0					17																	68172103		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172103C>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.923C>T	17.37:g.68172103C>T	ENSP00000243457:p.Thr308Met					KCNJ2_ENST00000535240.1_Missense_Mutation_p.T308M	p.T308M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	1306	+	Breast(10;1.64e-08)		308					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.923C>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819232	0.50633	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95377	-3.69;-3.69	5.77	5.77	0.91146	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97598	1.0121	9	.	.	.	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	308	P63252	IRK2_HUMAN	M	308	ENSP00000441848:T308M;ENSP00000243457:T308M	.	T	+	2	0	KCNJ2	65683698	1.000000	0.71417	0.971000	0.41717	0.281000	0.26958	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	ACG		0.463	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		5	39	0	0	0	1	0	5	39				
PRPSAP1	5635	broad.mit.edu	37	17	74307765	74307765	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74307765G>T	ENST00000446526.3	-	10	1461	c.1016C>A	c.(1015-1017)aCt>aAt	p.T339N	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.T236N	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	310					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ATGAGGGACAGTATTCGTCAC	0.433																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1015-1017)aCt>aAt		phosphoribosyl pyrophosphate synthetase-associated protein 1							124.0	100.0	108.0					17																	74307765		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74307765G>T	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.1016C>A	17.37:g.74307765G>T	ENSP00000414624:p.Thr339Asn					PRPSAP1_ENST00000324684.4_Missense_Mutation_p.T236N|PRPSAP1_ENST00000588364.1_5'UTR	p.T339N	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			10	1461	-			310					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.1016C>A	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909841	0.72983	.	.	ENSG00000161542	ENST00000446526;ENST00000324684	T;T	0.75589	-0.95;-0.95	5.87	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.91764	0.7395	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.978	D	0.94815	0.7982	10	0.87932	D	0	.	14.7349	0.69409	0.0691:0.0:0.9309:0.0	.	310;339	Q14558;Q14558-2	KPRA_HUMAN;.	N	339;236	ENSP00000414624:T339N;ENSP00000314973:T236N	ENSP00000314973:T236N	T	-	2	0	PRPSAP1	71819360	1.000000	0.71417	0.037000	0.18230	0.512000	0.34134	9.869000	0.99810	1.480000	0.48289	0.655000	0.94253	ACT		0.433	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		5	48	1	0	0.014758	1	0.0152625	5	48				
RUNX1	861	broad.mit.edu	37	21	36259226	36259226	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36259226G>A	ENST00000344691.4	-	1	1761	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	RUNX1_ENST00000325074.5_Silent_p.L77L|RUNX1_ENST00000486278.2_Silent_p.L65L|RUNX1_ENST00000358356.5_Silent_p.L62L|RUNX1_ENST00000300305.3_Silent_p.L89L|RUNX1_ENST00000399240.1_Silent_p.L62L|RUNX1_ENST00000437180.1_Silent_p.L89L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	62	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTGCGCACCAGCTCGCCCGGG	0.711			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""		"""AML, preB- ALL, T-ALL"""		0				breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(184-186)Ctg>Ttg		runt-related transcription factor 1							47.0	44.0	45.0					21																	36259226		2202	4300	6502	SO:0001819	synonymous_variant	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36259226G>A	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.184C>T	21.37:g.36259226G>A						RUNX1_ENST00000325074.5_Silent_p.L77L|RUNX1_ENST00000358356.5_Silent_p.L62L|RUNX1_ENST00000300305.3_Silent_p.L89L|RUNX1_ENST00000399240.1_Silent_p.L62L|RUNX1_ENST00000486278.2_Silent_p.L65L|RUNX1_ENST00000437180.1_Silent_p.L89L	p.L62L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			1	1761	-			62			Runt.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	c.184C>T	CCDS42922.1																																																																																				0.711	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			10	21	0	0	0	1	0	10	21				
COLGALT1	79709	broad.mit.edu	37	19	17692076	17692076	+	Silent	SNP	C	C	T	rs370733358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17692076C>T	ENST00000252599.4	+	12	1812	c.1692C>T	c.(1690-1692)gaC>gaT	p.D564D		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	564					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										ACACAGGAGACGATGGCTATG	0.597																																						ENST00000252599.4																			0											c.(1690-1692)gaC>gaT		collagen beta(1-O)galactosyltransferase 1		C		0,4406		0,0,2203	206.0	170.0	182.0		1692	-3.6	0.9	19		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLT25D1	NM_024656.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		564/623	17692076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17692076C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1692C>T	19.37:g.17692076C>T							p.D564D	NM_024656.2	NP_078932.2					12	1812	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.1692C>T	CCDS12363.1																																																																																				0.597	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		16	127	0	0	0	1	0	16	127				
ONECUT2	9480	broad.mit.edu	37	18	55103710	55103710	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55103710C>T	ENST00000491143.2	+	1	794	c.762C>T	c.(760-762)caC>caT	p.H254H	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	254					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCCGGGCCACGACAAAATGC	0.706																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(760-762)caC>caT		one cut homeobox 2							44.0	52.0	50.0					18																	55103710		2190	4272	6462	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103710C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.762C>T	18.37:g.55103710C>T							p.H254H	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	794	+		Colorectal(73;0.234)	254						Silent	SNP	ENST00000491143.2	37	c.762C>T	CCDS42440.1																																																																																				0.706	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			4	36	0	0	0	1	0	4	36				
ATP6V1B2	526	broad.mit.edu	37	8	20070400	20070400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20070400C>T	ENST00000276390.2	+	9	951	c.911C>T	c.(910-912)gCt>gTt	p.A304V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	304					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	AGTTCTTATGCTGAAGCACTT	0.383																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(910-912)gCt>gTt		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							158.0	140.0	146.0					8																	20070400		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20070400C>T	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.911C>T	8.37:g.20070400C>T	ENSP00000276390:p.Ala304Val						p.A304V	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	9	951	+			304					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.911C>T	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953115	0.92660	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	D	0.83419	-1.72	4.9	4.9	0.64082	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.152251	0.64402	D	0.000016	D	0.92665	0.7669	H	0.94620	3.56	0.80722	D	1	D	0.71674	0.998	P	0.60068	0.868	D	0.94515	0.7722	10	0.87932	D	0	-28.857	17.1689	0.86824	0.0:1.0:0.0:0.0	.	304	P21281	VATB2_HUMAN	V	304;178	ENSP00000276390:A304V	ENSP00000276390:A304V	A	+	2	0	ATP6V1B2	20114680	1.000000	0.71417	0.987000	0.45799	0.837000	0.47467	7.651000	0.83577	2.699000	0.92147	0.655000	0.94253	GCT		0.383	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		52	75	0	0	0	1	0	52	75				
LRP1	4035	broad.mit.edu	37	12	57600483	57600483	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57600483C>T	ENST00000243077.3	+	76	12284	c.11818C>T	c.(11818-11820)Cgc>Tgc	p.R3940C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3940					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTCCAACCGCCACCGGCG	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11818-11820)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						86.0	64.0	71.0					12																	57600483		2203	4298	6501	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57600483C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11818C>T	12.37:g.57600483C>T	ENSP00000243077:p.Arg3940Cys						p.R3940C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	76	12284	+			3940					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11818C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092655	0.76756	.	.	ENSG00000123384	ENST00000243077	D	0.90844	-2.74	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.88400	0.6426	L	0.42245	1.32	0.80722	D	1	D	0.61697	0.99	B	0.43575	0.424	D	0.88698	0.3213	10	0.45353	T	0.12	.	18.278	0.90089	0.0:1.0:0.0:0.0	.	3940	Q07954	LRP1_HUMAN	C	3940	ENSP00000243077:R3940C	ENSP00000243077:R3940C	R	+	1	0	LRP1	55886750	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	3.677000	0.54619	2.683000	0.91414	0.655000	0.94253	CGC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		17	26	0	0	0	1	0	17	26				
UBL7	84993	broad.mit.edu	37	15	74748994	74748994	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74748994C>T	ENST00000567435.1	-	3	666	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	UBL7_ENST00000361351.4_Missense_Mutation_p.R68Q|UBL7_ENST00000395081.2_Missense_Mutation_p.R68Q|UBL7_ENST00000565335.1_Missense_Mutation_p.R68Q|UBL7_ENST00000564488.1_Missense_Mutation_p.R68Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7	68	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTTTAGCTTCCGACCACAGTA	0.413																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(202-204)cGg>cAg		ubiquitin-like 7 (bone marrow stromal cell-derived)							160.0	143.0	148.0					15																	74748994		2197	4296	6493	SO:0001583	missense	84993						protein binding	g.chr15:74748994C>T	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.203G>A	15.37:g.74748994C>T	ENSP00000457703:p.Arg68Gln					UBL7_ENST00000564488.1_Missense_Mutation_p.R68Q|UBL7_ENST00000361351.4_Missense_Mutation_p.R68Q|UBL7_ENST00000395081.2_Missense_Mutation_p.R68Q|UBL7_ENST00000565335.1_Missense_Mutation_p.R68Q	p.R68Q			Q96S82	UBL7_HUMAN			3	666	-			68			Ubiquitin-like.		D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	c.203G>A	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837447	0.71373	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.74632	-0.86;-0.86	5.42	5.42	0.78866	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	L	0.52011	1.625	0.58432	D	0.999992	P;P	0.48503	0.911;0.835	B;B	0.38712	0.28;0.173	T	0.71817	-0.4478	10	0.38643	T	0.18	-16.6249	18.8032	0.92027	0.0:1.0:0.0:0.0	.	108;68	D3DW56;Q96S82	.;UBL7_HUMAN	Q	68	ENSP00000354883:R68Q;ENSP00000378518:R68Q	ENSP00000354883:R68Q	R	-	2	0	UBL7	72536047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.798000	0.69095	2.542000	0.85734	0.491000	0.48974	CGG		0.413	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		35	67	0	0	0	1	0	35	67				
LRFN1	57622	broad.mit.edu	37	19	39805603	39805603	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805603A>T	ENST00000248668.4	-	1	373	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	125						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACCTCCGCCAGGCGGTTGCT	0.701																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(373-375)cTg>cAg		leucine rich repeat and fibronectin type III domain containing 1							6.0	7.0	7.0					19																	39805603		1973	4034	6007	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805603A>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.374T>A	19.37:g.39805603A>T	ENSP00000248668:p.Leu125Gln					CTC-246B18.8_ENST00000601911.1_RNA	p.L125Q	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	373	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		125					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.374T>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895151	0.72639	.	.	ENSG00000128011	ENST00000248668	T	0.71103	-0.54	4.3	4.3	0.51218	.	0.000000	0.31612	N	0.007346	D	0.87537	0.6202	H	0.95745	3.715	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	D	0.90270	0.4307	10	0.87932	D	0	.	11.4179	0.49962	1.0:0.0:0.0:0.0	.	125	Q9P244	LRFN1_HUMAN	Q	125	ENSP00000248668:L125Q	ENSP00000248668:L125Q	L	-	2	0	LRFN1	44497443	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	9.010000	0.93611	1.798000	0.52647	0.374000	0.22700	CTG		0.701	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		4	6	0	0	0	1	0	4	6				
ANKRD11	29123	broad.mit.edu	37	16	89350925	89350925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350925C>A	ENST00000301030.4	-	9	2485	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E675D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	675	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGATCATTCTCTAACAGTA	0.368																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2023-2025)gaG>gaT		ankyrin repeat domain 11							168.0	162.0	164.0					16																	89350925		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350925C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2025G>T	16.37:g.89350925C>A	ENSP00000301030:p.Glu675Asp					ANKRD11_ENST00000378330.2_Missense_Mutation_p.E675D	p.E675D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2485	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	675			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2025G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.428572	0.00184	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.32753	1.44;1.44	5.45	-5.58	0.02512	.	0.210154	0.40640	N	0.001054	T	0.08403	0.0209	N	0.11064	0.09	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.004	T	0.39313	-0.9620	10	0.02654	T	1	.	4.0771	0.09909	0.3594:0.3935:0.1642:0.083	.	294;675	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	D	675;675;294	ENSP00000301030:E675D;ENSP00000367581:E675D	ENSP00000301030:E675D	E	-	3	2	ANKRD11	87878426	0.202000	0.23423	0.001000	0.08648	0.002000	0.02628	0.266000	0.18534	-0.557000	0.06126	-1.130000	0.01982	GAG		0.368	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		15	219	1	0	6.31663e-08	1	7.49729e-08	15	219				
XKRX	402415	broad.mit.edu	37	X	100183177	100183177	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100183177G>T	ENST00000372956.2	-	1	721	c.117C>A	c.(115-117)ttC>ttA	p.F39L	XKRX_ENST00000328526.5_Missense_Mutation_p.F52L|XKRX_ENST00000468904.1_Missense_Mutation_p.F39L			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AAAAGGTGGAGAAAAGGATGC	0.433																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(154-156)ttC>ttA		XK, Kell blood group complex subunit-related, X-linked							140.0	132.0	134.0					X																	100183177		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100183177G>T	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.117C>A	X.37:g.100183177G>T	ENSP00000362047:p.Phe39Leu					XKRX_ENST00000372956.2_Missense_Mutation_p.F39L|XKRX_ENST00000468904.1_Missense_Mutation_p.F39L	p.F52L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN			1	721	-			39					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.156C>A	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356311	0.41700	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T;T	0.61859	0.07;0.07;0.07	5.17	2.43	0.29744	.	0.251909	0.41500	D	0.000863	T	0.37705	0.1013	L	0.38175	1.15	0.38079	D	0.936601	B	0.17465	0.022	B	0.15052	0.012	T	0.12967	-1.0527	10	0.12103	T	0.63	-16.2184	3.837	0.08899	0.2812:0.0:0.5497:0.1691	.	39	Q6PP77	XKR2_HUMAN	L	52;39;39	ENSP00000327570:F52L;ENSP00000362047:F39L;ENSP00000419884:F39L	ENSP00000327570:F52L	F	-	3	2	XKRX	100069833	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	1.496000	0.35638	0.088000	0.17205	0.429000	0.28392	TTC		0.433	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		11	124	1	0	2.80697e-09	1	3.39963e-09	11	124				
FSD1	79187	broad.mit.edu	37	19	4323207	4323207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4323207C>A	ENST00000221856.6	+	11	1411	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	STAP2_ENST00000597593.1_5'Flank|FSD1_ENST00000597590.1_Intron	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	422	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGACTGCCTGGGTGTGCA	0.657																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1264-1266)Ctg>Atg		fibronectin type III and SPRY domain containing 1							68.0	73.0	71.0					19																	4323207		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4323207C>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1264C>A	19.37:g.4323207C>A	ENSP00000221856:p.Leu422Met					FSD1_ENST00000597590.1_Intron	p.L422M	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1411	+			422			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.1264C>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724305	0.68959	.	.	ENSG00000105255	ENST00000221856	T	0.70399	-0.48	4.56	2.28	0.28536	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.218963	0.37178	N	0.002212	T	0.72630	0.3484	M	0.66439	2.03	0.31720	N	0.638396	P	0.42620	0.785	P	0.51615	0.675	T	0.74973	-0.3481	10	0.66056	D	0.02	.	6.0556	0.19809	0.3352:0.5016:0.1632:0.0	.	422	Q9BTV5	FSD1_HUMAN	M	422	ENSP00000221856:L422M	ENSP00000221856:L422M	L	+	1	2	FSD1	4274207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.801000	0.55545	2.112000	0.64535	0.478000	0.44815	CTG		0.657	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		30	45	1	0	3.57733e-08	1	4.26642e-08	30	45				
ZNF214	7761	broad.mit.edu	37	11	7021900	7021900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7021900G>A	ENST00000278314.4	-	3	1329	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Silent_p.D338D	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTCTACTGAGGTCTTTATCAC	0.373																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1012-1014)gaC>gaT		zinc finger protein 214							101.0	105.0	104.0					11																	7021900		2200	4295	6495	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021900G>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1014C>T	11.37:g.7021900G>A						ZNF214_ENST00000536068.1_Silent_p.D338D	p.D338D	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1329	-			338					B2R8Q1	Silent	SNP	ENST00000278314.4	37	c.1014C>T	CCDS31418.1																																																																																				0.373	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			56	56	0	0	0	1	0	56	56				
CLCA2	9635	broad.mit.edu	37	1	86905903	86905903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86905903C>A	ENST00000370565.4	+	8	1438	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	426	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGATAAGCTTCTTGGCAATTG	0.443																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1276-1278)Ctt>Att		chloride channel accessory 2							157.0	150.0	152.0					1																	86905903		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86905903C>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1276C>A	1.37:g.86905903C>A	ENSP00000359596:p.Leu426Ile						p.L426I	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	8	1438	+		Lung NSC(277;0.238)	426			VWFA.		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.1276C>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	1.284	-0.609618	0.03690	.	.	ENSG00000137975	ENST00000370565	T	0.68624	-0.34	5.77	-4.3	0.03710	von Willebrand factor, type A (3);	0.758585	0.12363	N	0.475496	T	0.04363	0.0120	N	0.00043	-2.47	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41998	-0.9477	10	0.02654	T	1	-1.1553	9.5122	0.39085	0.4707:0.1036:0.4257:0.0	.	426	Q9UQC9	CLCA2_HUMAN	I	426	ENSP00000359596:L426I	ENSP00000359596:L426I	L	+	1	0	CLCA2	86678491	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.315000	0.08081	-1.151000	0.02836	-0.256000	0.11100	CTT		0.443	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		6	185	1	0	3.59834e-05	1	4.01776e-05	6	185				
APEH	327	broad.mit.edu	37	3	49720671	49720671	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49720671C>A	ENST00000296456.5	+	22	2495	c.2095C>A	c.(2095-2097)Ctc>Atc	p.L699I	APEH_ENST00000438011.1_Splice_Site_p.L704I|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	699					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.L699F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCTACAGGCTCCTGCTCTA	0.562																																						ENST00000296456.5																			1	Substitution - Missense(1)	p.L699F(1)	large_intestine(1)	endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.e22-1		acylaminoacyl-peptide hydrolase							174.0	183.0	180.0					3																	49720671		2203	4300	6503	SO:0001630	splice_region_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49720671C>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.2094-1C>A	3.37:g.49720671C>A						APEH_ENST00000438011.1_Splice_Site_p.L704_splice	p.L699_splice	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	22	2495	+			699					Q9BQ33|Q9P0Y2	Splice_Site	SNP	ENST00000296456.5	37	c.2093_splice	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677231	0.47886	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.35605	1.3;1.3	5.88	3.85	0.44370	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.287178	0.34802	N	0.003670	T	0.35219	0.0924	M	0.67625	2.065	0.43868	D	0.996472	B;B	0.23990	0.022;0.095	B;B	0.30251	0.113;0.057	T	0.27839	-1.0062	10	0.45353	T	0.12	-21.4287	7.4136	0.27032	0.1281:0.6723:0.1246:0.075	.	704;699	C9JIF9;P13798	.;ACPH_HUMAN	I	699;704	ENSP00000296456:L699I;ENSP00000415862:L704I	ENSP00000296456:L699I	L	+	1	0	APEH	49695675	0.997000	0.39634	1.000000	0.80357	0.899000	0.52679	0.382000	0.20635	2.782000	0.95742	0.655000	0.94253	CTC		0.562	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		Missense_Mutation	16	139	1	0	1.3612e-06	1	1.57881e-06	16	139				
TRHDE	29953	broad.mit.edu	37	12	73012803	73012803	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:73012803C>A	ENST00000261180.4	+	13	2415	c.2319C>A	c.(2317-2319)aaC>aaA	p.N773K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	773					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCATGGAAAACTACAACATTT	0.333																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2317-2319)aaC>aaA		thyrotropin-releasing hormone degrading enzyme							39.0	41.0	40.0					12																	73012803		2199	4299	6498	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012803C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2319C>A	12.37:g.73012803C>A	ENSP00000261180:p.Asn773Lys						p.N773K	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			13	2415	+			773					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2319C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	2.316	-0.356670	0.05138	.	.	ENSG00000072657	ENST00000261180	T	0.05258	3.47	5.77	4.83	0.62350	.	0.208615	0.50627	N	0.000106	T	0.03783	0.0107	N	0.12182	0.205	0.39192	D	0.962982	B	0.02656	0.0	B	0.06405	0.002	T	0.21999	-1.0229	10	0.05959	T	0.93	.	14.3765	0.66881	0.1918:0.8082:0.0:0.0	.	773	Q9UKU6	TRHDE_HUMAN	K	773	ENSP00000261180:N773K	ENSP00000261180:N773K	N	+	3	2	TRHDE	71299070	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.897000	0.39799	1.427000	0.47276	0.655000	0.94253	AAC		0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		14	25	1	0	2.23348e-06	1	2.57349e-06	14	25				
STAC	6769	broad.mit.edu	37	3	36570431	36570431	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36570431T>G	ENST00000273183.3	+	10	1364	c.1064T>G	c.(1063-1065)tTc>tGc	p.F355C	STAC_ENST00000457375.2_Missense_Mutation_p.F294C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	355					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GTTAGAACCTTCATTGGGTGT	0.393																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(1063-1065)tTc>tGc		SH3 and cysteine rich domain							81.0	80.0	81.0					3																	36570431		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36570431T>G	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1064T>G	3.37:g.36570431T>G	ENSP00000273183:p.Phe355Cys					STAC_ENST00000457375.2_Missense_Mutation_p.F294C	p.F355C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			10	1364	+			355					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.1064T>G	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409103	0.83340	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	T;T	0.08720	3.06;3.06	5.45	5.45	0.79879	Src homology-3 domain (1);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03443	-1.1036	10	0.87932	D	0	.	15.4932	0.75629	0.0:0.0:0.0:1.0	.	294;355	E9PEA7;Q99469	.;STAC_HUMAN	C	355;294;287	ENSP00000273183:F355C;ENSP00000393713:F294C	ENSP00000273183:F355C	F	+	2	0	STAC	36545435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.637000	0.67854	2.197000	0.70478	0.533000	0.62120	TTC		0.393	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		23	32	0	0	0	1	0	23	32				
BEND2	139105	broad.mit.edu	37	X	18234728	18234728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18234728C>T	ENST00000380033.4	-	2	283	c.151G>A	c.(151-153)Gca>Aca	p.A51T	BEND2_ENST00000380030.3_Missense_Mutation_p.A51T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	51										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTATCTGCTGTGACATAA	0.408																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(151-153)Gca>Aca		BEN domain containing 2							270.0	209.0	230.0					X																	18234728		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18234728C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.151G>A	X.37:g.18234728C>T	ENSP00000369372:p.Ala51Thr					BEND2_ENST00000380030.3_Missense_Mutation_p.A51T	p.A51T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			2	283	-			51					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.151G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606390	0.28623	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.22539	1.99;1.95	1.41	-0.693	0.11298	.	.	.	.	.	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	1	P;P	0.41232	0.743;0.743	B;B	0.23150	0.044;0.044	T	0.21793	-1.0235	9	0.62326	D	0.03	3.9087	3.0484	0.06161	0.302:0.4008:0.2971:0.0	.	51;51	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	T	51	ENSP00000369372:A51T;ENSP00000369369:A51T	ENSP00000369369:A51T	A	-	1	0	BEND2	18144649	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.282000	0.02799	-0.324000	0.08589	0.436000	0.28706	GCA		0.408	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		9	66	0	0	0	1	0	9	66				
TMC5	79838	broad.mit.edu	37	16	19492748	19492748	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19492748G>T	ENST00000396229.2	+	15	3073	c.2324G>T	c.(2323-2325)aGg>aTg	p.R775M	TMC5_ENST00000381414.4_Missense_Mutation_p.R775M|TMC5_ENST00000561503.1_Missense_Mutation_p.R416M|TMC5_ENST00000564959.1_Missense_Mutation_p.R458M|TMC5_ENST00000541464.1_Missense_Mutation_p.R723M|TMC5_ENST00000219821.5_Missense_Mutation_p.R529M|TMC5_ENST00000542583.2_Missense_Mutation_p.R775M|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACATTGCCAGGAACGTTCTA	0.448																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2323-2325)aGg>aTg		transmembrane channel-like 5							191.0	160.0	170.0					16																	19492748		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19492748G>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2324G>T	16.37:g.19492748G>T	ENSP00000379531:p.Arg775Met					TMC5_ENST00000564959.1_Missense_Mutation_p.R458M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.R775M|TMC5_ENST00000541464.1_Missense_Mutation_p.R723M|TMC5_ENST00000542583.2_Missense_Mutation_p.R775M|TMC5_ENST00000561503.1_Missense_Mutation_p.R416M|TMC5_ENST00000219821.5_Missense_Mutation_p.R529M	p.R775M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			15	3073	+			775					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2324G>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014047	0.93404	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.85859	2.78	0.49299	D	0.999777	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;0.992;0.999;1.0;0.999;0.999	D	0.83885	0.0281	10	0.56958	D	0.05	-21.5203	17.874	0.88819	0.0:0.0:1.0:0.0	.	723;458;529;529;775;775	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	M	723;775;775;775;529;458	ENSP00000441227:R723M;ENSP00000370822:R775M;ENSP00000379531:R775M;ENSP00000446274:R775M;ENSP00000219821:R529M	ENSP00000219821:R529M	R	+	2	0	TMC5	19400249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.612000	0.74187	2.521000	0.84997	0.655000	0.94253	AGG		0.448	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		43	94	1	0	6.4771e-29	1	8.66007e-29	43	94				
PRPF31	26121	broad.mit.edu	37	19	54625310	54625310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54625310G>A	ENST00000321030.4	+	4	659	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PRPF31_ENST00000391755.1_Missense_Mutation_p.E104K|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Missense_Mutation_p.E104K|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	104					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTGGAGATCGAAAACGAGCT	0.642																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(310-312)Gaa>Aaa		pre-mRNA processing factor 31							95.0	64.0	74.0					19																	54625310		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54625310G>A	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.310G>A	19.37:g.54625310G>A	ENSP00000324122:p.Glu104Lys					PRPF31_ENST00000419967.1_Missense_Mutation_p.E104K|PRPF31_ENST00000391755.1_Missense_Mutation_p.E104K|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR	p.E104K	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			4	659	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		104					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.310G>A	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259235	0.80246	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.29	5.29	0.74685	NOSIC (2);	0.181870	0.46758	D	0.000267	T	0.80160	0.4572	L	0.45352	1.415	0.58432	D	0.999998	D;D	0.54601	0.967;0.967	B;B	0.42462	0.388;0.239	D	0.83652	0.0156	10	0.87932	D	0	-38.283	18.0779	0.89433	0.0:0.0:1.0:0.0	.	104;104	E7ESA8;Q8WWY3	.;PRP31_HUMAN	K	104	ENSP00000324122:E104K;ENSP00000395894:E104K;ENSP00000405166:E104K;ENSP00000408980:E104K;ENSP00000395089:E104K;ENSP00000375635:E104K	ENSP00000263436:E104K	E	+	1	0	PRPF31	59317122	1.000000	0.71417	0.998000	0.56505	0.545000	0.35147	8.639000	0.91023	2.632000	0.89209	0.655000	0.94253	GAA		0.642	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			6	13	0	0	0	1	0	6	13				
ACTR3B	57180	broad.mit.edu	37	7	152517446	152517446	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152517446G>A	ENST00000256001.8	+	7	737	c.603G>A	c.(601-603)acG>acA	p.T201T	ACTR3B_ENST00000537264.1_Silent_p.T113T|ACTR3B_ENST00000377776.3_Silent_p.T201T|ACTR3B_ENST00000397282.2_Silent_p.T113T	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	201						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGATATTACGTATTTCATTC	0.468																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(601-603)acG>acA		ARP3 actin-related protein 3 homolog B (yeast)							23.0	20.0	21.0					7																	152517446		2200	4279	6479	SO:0001819	synonymous_variant	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152517446G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.603G>A	7.37:g.152517446G>A						ACTR3B_ENST00000377776.3_Silent_p.T201T|ACTR3B_ENST00000397282.2_Silent_p.T113T|ACTR3B_ENST00000537264.1_Silent_p.T113T	p.T201T	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	7	737	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	201					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	c.603G>A	CCDS5934.1																																																																																				0.468	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		4	30	0	0	0	1	0	4	30				
RNF165	494470	broad.mit.edu	37	18	44027652	44027652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027652G>T	ENST00000269439.7	+	4	663	c.612G>T	c.(610-612)caG>caT	p.Q204H	RNF165_ENST00000543885.1_Missense_Mutation_p.Q12H	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	204							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCTCCACACAGATGGTAAGTG	0.582																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(610-612)caG>caT		ring finger protein 165							209.0	182.0	191.0					18																	44027652		2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44027652G>T	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.612G>T	18.37:g.44027652G>T	ENSP00000269439:p.Gln204His					RNF165_ENST00000543885.1_Missense_Mutation_p.Q12H	p.Q204H	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	4	663	+			204					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.612G>T	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337534	0.60963	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.23552	2.18;1.9	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.54323	1.7	0.53688	D	0.999974	P	0.48016	0.904	P	0.49561	0.615	T	0.01884	-1.1254	10	0.14656	T	0.56	-5.7122	14.1002	0.65049	0.0716:0.0:0.9284:0.0	.	204	Q6ZSG1	RN165_HUMAN	H	204;12	ENSP00000269439:Q204H;ENSP00000444285:Q12H	ENSP00000269439:Q204H	Q	+	3	2	RNF165	42281650	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.180000	0.65048	2.707000	0.92482	0.555000	0.69702	CAG		0.582	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		36	50	1	0	1.836e-18	1	2.39396e-18	36	50				
DACT1	51339	broad.mit.edu	37	14	59113084	59113084	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113084C>A	ENST00000335867.4	+	4	1767	c.1743C>A	c.(1741-1743)aaC>aaA	p.N581K	DACT1_ENST00000541264.2_Missense_Mutation_p.N300K|DACT1_ENST00000395153.3_Missense_Mutation_p.N544K|DACT1_ENST00000556859.1_Missense_Mutation_p.N300K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	581					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCGTGAAGAACTCCAGCCTGA	0.667																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1630-1632)aaC>aaA		dishevelled-binding antagonist of beta-catenin 1							21.0	25.0	23.0					14																	59113084		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113084C>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1743C>A	14.37:g.59113084C>A	ENSP00000337439:p.Asn581Lys					DACT1_ENST00000556859.1_Missense_Mutation_p.N300K|DACT1_ENST00000395151.3_Missense_Mutation_p.N300K|DACT1_ENST00000335867.4_Missense_Mutation_p.N581K|DACT1_ENST00000541264.2_Missense_Mutation_p.N300K	p.N544K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1779	+			581					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1632C>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	1.663	-0.511103	0.04231	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.07	2.22	0.28083	.	0.314645	0.34245	N	0.004140	T	0.18923	0.0454	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.12156	0.0;0.007	T	0.18272	-1.0342	10	0.31617	T	0.26	-0.7791	10.3433	0.43891	0.0:0.7814:0.0:0.2186	.	544;581	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	300;300;544;581;300	ENSP00000451598:N300K;ENSP00000378581:N300K;ENSP00000378582:N544K;ENSP00000337439:N581K;ENSP00000442850:N300K	ENSP00000337439:N581K	N	+	3	2	DACT1	58182837	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	1.537000	0.36083	0.552000	0.29026	-0.253000	0.11424	AAC		0.667	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		7	18	1	0	0.0381472	1	0.0390147	7	18				
ATP6V0D2	245972	broad.mit.edu	37	8	87165057	87165057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87165057G>A	ENST00000285393.3	+	8	1046	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	CTD-3118D11.2_ENST00000524253.1_RNA|CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	302					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACAAATGAATGTGCTGGCATT	0.353																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(904-906)Gtg>Atg		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							162.0	150.0	154.0					8																	87165057		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87165057G>A	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.904G>A	8.37:g.87165057G>A	ENSP00000285393:p.Val302Met					CTD-3118D11.2_ENST00000522679.1_RNA	p.V302M	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			8	1046	+			302						Missense_Mutation	SNP	ENST00000285393.3	37	c.904G>A	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582009	0.65992	.	.	ENSG00000147614	ENST00000285393	T	0.30714	1.52	6.06	6.06	0.98353	.	0.137961	0.49916	D	0.000137	T	0.52158	0.1717	M	0.63843	1.955	0.49915	D	0.99983	D	0.61080	0.989	P	0.61070	0.883	T	0.36040	-0.9764	10	0.44086	T	0.13	-2.4966	19.6279	0.95687	0.0:0.0:1.0:0.0	.	302	Q8N8Y2	VA0D2_HUMAN	M	302	ENSP00000285393:V302M	ENSP00000285393:V302M	V	+	1	0	ATP6V0D2	87234173	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.276000	0.72601	2.880000	0.98712	0.650000	0.86243	GTG		0.353	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		6	98	0	0	0	1	0	6	98				
LPHN2	23266	broad.mit.edu	37	1	82421735	82421735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82421735G>A	ENST00000370728.1	+	13	2641	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	LPHN2_ENST00000370723.1_Missense_Mutation_p.E653K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E653K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.E666K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E666K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E666K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E653K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E653K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E653K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E653K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E591K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E666K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E666K			O95490	LPHN2_HUMAN	latrophilin 2	666					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGCCCACAGAAAATATTGG	0.358																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1996-1998)Gaa>Aaa		latrophilin 2							64.0	60.0	61.0					1																	82421735		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82421735G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1996G>A	1.37:g.82421735G>A	ENSP00000359763:p.Glu666Lys					LPHN2_ENST00000370727.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E653K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E653K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E666K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E653K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E666K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E653K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E666K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.E666K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E666K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E591K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E653K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E653K	p.E666K			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	13	2641	+			666					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1996G>A		.	.	.	.	.	.	.	.	.	.	G	13.21	2.170249	0.38315	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.47	5.47	0.80525	.	0.276082	0.36815	N	0.002397	T	0.04770	0.0129	L	0.38838	1.175	0.49915	D	0.999833	B;P;B	0.35684	0.053;0.515;0.053	B;B;B	0.29267	0.096;0.1;0.06	T	0.41124	-0.9526	10	0.25106	T	0.35	.	19.3323	0.94295	0.0:0.0:1.0:0.0	.	653;653;653	O95490-3;O95490-4;O95490-2	.;.;.	K	591;666;666;666;666;653;653;653;653;653;666;653;666;666	ENSP00000359756:E591K;ENSP00000359763:E666K;ENSP00000359765:E666K;ENSP00000359762:E666K;ENSP00000359760:E666K;ENSP00000359758:E653K;ENSP00000353006:E653K;ENSP00000359750:E653K;ENSP00000359748:E653K;ENSP00000322270:E653K;ENSP00000359752:E666K;ENSP00000378344:E653K;ENSP00000271029:E666K;ENSP00000337306:E666K	ENSP00000271029:E666K	E	+	1	0	LPHN2	82194323	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.304000	0.78882	2.568000	0.86640	0.467000	0.42956	GAA		0.358	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		22	54	0	0	0	1	0	22	54				
BCAS3	54828	broad.mit.edu	37	17	59469378	59469378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59469378C>T	ENST00000390652.5	+	25	2710	c.2679C>T	c.(2677-2679)agC>agT	p.S893S	RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|BCAS3_ENST00000589222.1_3'UTR|RP11-332H18.4_ENST00000592377.1_RNA|RP11-332H18.4_ENST00000586706.1_RNA|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000408905.3_Silent_p.S900S|BCAS3_ENST00000588462.1_Silent_p.S915S|RP11-332H18.4_ENST00000591313.1_RNA|BCAS3_ENST00000585744.1_Silent_p.S664S|BCAS3_ENST00000588874.1_Silent_p.S649S|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Silent_p.S878S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGAGTAACAGCTCAGGCTCCA	0.597																																						ENST00000588462.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2743-2745)agC>agT		breast carcinoma amplified sequence 3							87.0	99.0	95.0					17																	59469378		2039	4196	6235	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59469378C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2679C>T	17.37:g.59469378C>T						RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588874.1_Silent_p.S649S|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000390652.5_Silent_p.S893S|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Silent_p.S878S|BCAS3_ENST00000585744.1_Silent_p.S664S|BCAS3_ENST00000408905.3_Silent_p.S900S	p.S915S			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		25	2745	+			893						Silent	SNP	ENST00000390652.5	37	c.2745C>T	CCDS45749.1																																																																																				0.597	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		37	48	0	0	0	1	0	37	48				
DNAH5	1767	broad.mit.edu	37	5	13814920	13814920	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13814920C>A	ENST00000265104.4	-	43	7128	c.7024G>T	c.(7024-7026)Gat>Tat	p.D2342Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2342	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGATGGCATCTACTGGACCA	0.398									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7024-7026)Gat>Tat		dynein, axonemal, heavy chain 5							76.0	69.0	72.0					5																	13814920		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13814920C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7024G>T	5.37:g.13814920C>A	ENSP00000265104:p.Asp2342Tyr						p.D2342Y	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			43	7128	-	Lung NSC(4;0.00476)		2342			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7024G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614600	0.87359	.	.	ENSG00000039139	ENST00000265104	D	0.97642	-4.47	5.22	5.22	0.72569	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98850	1.0758	10	0.87932	D	0	.	18.765	0.91868	0.0:1.0:0.0:0.0	.	2342	Q8TE73	DYH5_HUMAN	Y	2342	ENSP00000265104:D2342Y	ENSP00000265104:D2342Y	D	-	1	0	DNAH5	13867920	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.770000	0.85390	2.431000	0.82371	0.650000	0.86243	GAT		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		18	37	1	0	6.49762e-13	1	8.19883e-13	18	37				
HOXA3	3200	broad.mit.edu	37	7	27149775	27149775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27149775G>A	ENST00000396352.4	-	2	684	c.485C>T	c.(484-486)tCt>tTt	p.S162F	HOXA3_ENST00000317201.2_Missense_Mutation_p.S162F|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	162					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTTTTGTCGAGACTCTTTCAT	0.562																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(484-486)tCt>tTt		homeobox A3							113.0	113.0	113.0					7																	27149775		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27149775G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.485C>T	7.37:g.27149775G>A	ENSP00000379640:p.Ser162Phe					HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.S162F	p.S162F	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			2	684	-			162					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.485C>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.191900	0.58017	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	T;T	0.03831	3.79;3.79	5.83	4.94	0.65067	.	0.162522	0.56097	D	0.000027	T	0.23926	0.0579	M	0.87682	2.9	0.58432	D	0.999998	D	0.71674	0.998	P	0.62014	0.897	T	0.08513	-1.0718	10	0.87932	D	0	.	16.2594	0.82533	0.0:0.0:0.8662:0.1338	.	162	O43365	HXA3_HUMAN	F	162;162;4	ENSP00000379640:S162F;ENSP00000324884:S162F	ENSP00000324884:S162F	S	-	2	0	HOXA3	27116300	1.000000	0.71417	0.937000	0.37676	0.995000	0.86356	7.535000	0.82014	1.454000	0.47793	0.655000	0.94253	TCT		0.562	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			23	73	0	0	0	1	0	23	73				
LRFN5	145581	broad.mit.edu	37	14	42360968	42360968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360968C>T	ENST00000298119.4	+	4	3090	c.1901C>T	c.(1900-1902)aCt>aTt	p.T634I	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	634						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCTTCCTGGACTTCAAGCACT	0.448										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1900-1902)aCt>aTt		leucine rich repeat and fibronectin type III domain containing 5							112.0	92.0	99.0					14																	42360968		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360968C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1901C>T	14.37:g.42360968C>T	ENSP00000298119:p.Thr634Ile	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.T634I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3090	+			634					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1901C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735243	0.30774	.	.	ENSG00000165379	ENST00000298119	T	0.47528	0.84	5.9	5.9	0.94986	.	0.102948	0.42964	D	0.000625	T	0.29850	0.0746	N	0.08118	0	0.80722	D	1	B	0.30068	0.267	B	0.22386	0.039	T	0.10268	-1.0637	10	0.37606	T	0.19	.	17.7706	0.88491	0.0:1.0:0.0:0.0	.	634	Q96NI6	LRFN5_HUMAN	I	634	ENSP00000298119:T634I	ENSP00000298119:T634I	T	+	2	0	LRFN5	41430718	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.327000	0.65881	2.808000	0.96608	0.650000	0.86243	ACT		0.448	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		6	23	0	0	0	1	0	6	23				
KCNT2	343450	broad.mit.edu	37	1	196451510	196451510	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196451510C>A	ENST00000294725.9	-	4	1191		c.e4-1		KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATATGAGACCTATAAAAAGA	0.269																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e4-1		potassium channel, subfamily T, member 2							36.0	34.0	35.0					1																	196451510		2201	4296	6497	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196451510C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.276-1G>T	1.37:g.196451510C>A						KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.8_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site				Q6UVM3	KCNT2_HUMAN			4	377	-								Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37		CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488439	0.84854	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4088	0.90543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194718133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.674000	0.61612	2.703000	0.92315	0.655000	0.94253	.		0.269	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	4	15	1	0	0.00909568	1	0.00947522	4	15				
DCHS1	8642	broad.mit.edu	37	11	6648773	6648773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6648773G>A	ENST00000299441.3	-	14	5908	c.5497C>T	c.(5497-5499)Cca>Tca	p.P1833S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1833	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGAGCTGGCTGGCCTCCA	0.592																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(5497-5499)Cca>Tca		dachsous cadherin-related 1							31.0	23.0	26.0					11																	6648773		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648773G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5497C>T	11.37:g.6648773G>A	ENSP00000299441:p.Pro1833Ser						p.P1833S	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	5908	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1833			Cadherin 17.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5497C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286855	0.80803	.	.	ENSG00000166341	ENST00000299441	T	0.56776	0.44	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.46758	D	0.000271	T	0.79131	0.4394	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82149	-0.0600	10	0.54805	T	0.06	.	18.3905	0.90481	0.0:0.0:1.0:0.0	.	1833	Q96JQ0	PCD16_HUMAN	S	1833	ENSP00000299441:P1833S	ENSP00000299441:P1833S	P	-	1	0	DCHS1	6605349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.826000	0.86716	2.826000	0.97356	0.563000	0.77884	CCA		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	13	0	0	0	1	0	8	13				
DUSP10	11221	broad.mit.edu	37	1	221879454	221879454	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221879454T>A	ENST00000366899.3	-	3	1404	c.1166A>T	c.(1165-1167)gAg>gTg	p.E389V	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.E47V|DUSP10_ENST00000323825.3_Missense_Mutation_p.E47V	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	389	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTCAAAAGCCTCTTCAAAGTA	0.468																																						ENST00000366899.3																			0				NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1165-1167)gAg>gTg		dual specificity phosphatase 10							96.0	102.0	100.0					1																	221879454		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879454T>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1166A>T	1.37:g.221879454T>A	ENSP00000355866:p.Glu389Val					DUSP10_ENST00000323825.3_Missense_Mutation_p.E47V|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.E47V	p.E389V	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1404	-			389			Tyrosine-protein phosphatase.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.1166A>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710735	0.89112	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	D;D;D	0.86366	-2.11;-2.11;-2.11	5.44	5.44	0.79542	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.93755	0.7062	10	0.87932	D	0	.	15.7872	0.78315	0.0:0.0:0.0:1.0	.	389	Q9Y6W6	DUS10_HUMAN	V	389;334;47;47	ENSP00000355866:E389V;ENSP00000322015:E47V;ENSP00000441302:E47V	ENSP00000322015:E47V	E	-	2	0	DUSP10	219946077	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.182000	0.69389	0.482000	0.46254	GAG		0.468	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		5	114	0	0	0	1	0	5	114				
STK33	65975	broad.mit.edu	37	11	8496321	8496321	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8496321C>A	ENST00000447869.1	-	1	1050	c.132G>T	c.(130-132)caG>caT	p.Q44H	STK33_ENST00000534493.1_Missense_Mutation_p.Q3H|STK33_ENST00000396673.1_Missense_Mutation_p.Q44H|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.Q44H|STK33_ENST00000315204.1_Missense_Mutation_p.Q44H			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	44					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCTTGATGTCTGTGACATTT	0.378																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(130-132)caG>caT		serine/threonine kinase 33							129.0	130.0	130.0					11																	8496321		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8496321C>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.132G>T	11.37:g.8496321C>A	ENSP00000416750:p.Gln44His					STK33_ENST00000534493.1_Missense_Mutation_p.Q3H|STK33_ENST00000358872.3_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.Q44H|STK33_ENST00000315204.1_Missense_Mutation_p.Q44H|STK33_ENST00000396672.1_Missense_Mutation_p.Q44H	p.Q44H			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	1	1050	-			44					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.132G>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497503	0.44455	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000418597;ENST00000422559;ENST00000457885;ENST00000431279	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.54;-0.34;0.3;1.32;0.31	4.59	-0.747	0.11091	.	0.874893	0.09628	N	0.776590	T	0.65831	0.2729	L	0.59436	1.845	0.09310	N	0.999994	P	0.50943	0.94	P	0.46975	0.533	T	0.57294	-0.7836	10	0.87932	D	0	.	3.2033	0.06657	0.3167:0.4219:0.0:0.2614	.	44	Q9BYT3	STK33_HUMAN	H	44;44;44;44;3;3;3;44;44	ENSP00000416750:Q44H;ENSP00000320754:Q44H;ENSP00000379905:Q44H;ENSP00000379906:Q44H;ENSP00000436418:Q3H;ENSP00000391362:Q3H;ENSP00000411510:Q3H;ENSP00000403599:Q44H;ENSP00000397569:Q44H	ENSP00000320754:Q44H	Q	-	3	2	STK33	8452897	0.020000	0.18652	0.300000	0.25030	0.688000	0.40055	-1.414000	0.02471	-0.219000	0.10003	0.563000	0.77884	CAG		0.378	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		9	139	1	0	1.58986e-06	1	1.84011e-06	9	139				
CT83	203413	broad.mit.edu	37	X	115592988	115592988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115592988C>T	ENST00000371894.4	-	2	408	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		88						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						AGCTTGTTTTCCACCATACTG	0.438																																						ENST00000371894.4																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(262-264)Gaa>Aaa		chromosome X open reading frame 61							193.0	162.0	173.0					X																	115592988		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115592988C>T																												ENST00000371894.4:c.262G>A	X.37:g.115592988C>T	ENSP00000360961:p.Glu88Lys						p.E88K	NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN			2	408	-			88						Missense_Mutation	SNP	ENST00000371894.4	37	c.262G>A	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343156	0.41498	.	.	ENSG00000204019	ENST00000371894	.	.	.	5.2	2.45	0.29901	.	0.164042	0.28933	N	0.013676	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	P	0.36392	0.551	B	0.27715	0.082	T	0.11665	-1.0578	9	0.66056	D	0.02	-5.461	6.9346	0.24459	0.0:0.7077:0.0:0.2923	.	88	Q5H943	KKLC1_HUMAN	K	88	.	ENSP00000360961:E88K	E	-	1	0	CXorf61	115507016	0.030000	0.19436	0.051000	0.19133	0.239000	0.25481	0.323000	0.19593	0.201000	0.20466	0.534000	0.68092	GAA		0.438	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			5	159	0	0	0	1	0	5	159				
ANO1	55107	broad.mit.edu	37	11	69951859	69951859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69951859G>A	ENST00000355303.5	+	5	1017	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ANO1_ENST00000538023.1_Missense_Mutation_p.D238N|ANO1_ENST00000530676.1_Missense_Mutation_p.D122N|ANO1_ENST00000398543.2_Missense_Mutation_p.D122N|ANO1_ENST00000531349.1_5'Flank|ANO1_ENST00000316296.5_Missense_Mutation_p.D210N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	238					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTCTGATAAGGATTCCTTTTT	0.502																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(712-714)Gat>Aat		anoctamin 1, calcium activated chloride channel							109.0	109.0	109.0					11																	69951859		1931	4123	6054	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69951859G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.712G>A	11.37:g.69951859G>A	ENSP00000347454:p.Asp238Asn					ANO1_ENST00000398543.2_Missense_Mutation_p.D122N|ANO1_ENST00000538023.1_Missense_Mutation_p.D238N|ANO1_ENST00000316296.5_Missense_Mutation_p.D210N|ANO1_ENST00000530676.1_Missense_Mutation_p.D122N	p.D238N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			5	1017	+			238					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.712G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134874	0.37728	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.06	5.06	0.68205	.	0.058807	0.64402	D	0.000004	T	0.57373	0.2049	L	0.33668	1.02	0.53688	D	0.999971	B;B	0.29886	0.126;0.26	B;B	0.30572	0.046;0.117	T	0.54050	-0.8351	9	.	.	.	.	17.4338	0.87546	0.0:0.0:1.0:0.0	.	210;238	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	N	238;238;122;22;205;210;122	ENSP00000347454:D238N;ENSP00000444689:D238N;ENSP00000381551:D122N;ENSP00000436392:D205N;ENSP00000319477:D210N;ENSP00000435797:D122N	.	D	+	1	0	ANO1	69629507	1.000000	0.71417	0.999000	0.59377	0.210000	0.24377	4.992000	0.63889	2.360000	0.80028	0.650000	0.86243	GAT		0.502	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		5	39	0	0	0	1	0	5	39				
HSPA1B	3304	broad.mit.edu	37	6	31797648	31797648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31797648G>T	ENST00000375650.3	+	1	2137	c.1921G>T	c.(1921-1923)Gat>Tat	p.D641Y	HSPA1B_ENST00000545241.1_Missense_Mutation_p.D550Y	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	641					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						TGAGGAGGTGGATTAGGGGCC	0.567																																						ENST00000375650.3																			0				breast(1)|large_intestine(1)|prostate(1)	3						c.(1921-1923)Gat>Tat		heat shock 70kDa protein 1B							72.0	86.0	81.0					6																	31797648		1721	3362	5083	SO:0001583	missense	3304				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31797648G>T		CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1921G>T	6.37:g.31797648G>T	ENSP00000364801:p.Asp641Tyr					HSPA1B_ENST00000545241.1_Missense_Mutation_p.D550Y	p.D641Y	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN			1	2137	+			641					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375650.3	37	c.1921G>T	CCDS34415.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834881	0.32421	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.02323	4.64;4.34	4.31	4.31	0.51392	.	0.000000	0.39687	N	0.001284	T	0.06096	0.0158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05666	-1.0871	7	0.87932	D	0	.	14.6306	0.68653	0.0:0.0:1.0:0.0	.	.	.	.	Y	708;641;624;550	ENSP00000364801:D641Y;ENSP00000442789:D550Y	ENSP00000364801:D641Y	D	+	1	0	HSPA1B	31905627	1.000000	0.71417	0.999000	0.59377	0.092000	0.18411	9.769000	0.98969	2.103000	0.63969	0.411000	0.27672	GAT		0.567	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076402.2			6	94	1	0	0.000157383	1	0.00017284	6	94				
ST8SIA2	8128	broad.mit.edu	37	15	93007444	93007444	+	Silent	SNP	G	G	A	rs201615346	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007444G>A	ENST00000268164.3	+	6	1194	c.957G>A	c.(955-957)ccG>ccA	p.P319P	ST8SIA2_ENST00000539113.1_Silent_p.P298P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	319					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGCCCTTTCCGCTGGATCAGA	0.517																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(955-957)ccG>ccA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2		G		0,4396		0,0,2198	78.0	70.0	73.0		957	-11.6	0.0	15		73	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ST8SIA2	NM_006011.3		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		319/376	93007444	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007444G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.957G>A	15.37:g.93007444G>A						ST8SIA2_ENST00000539113.1_Silent_p.P298P	p.P319P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1194	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		319					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.957G>A	CCDS10372.1																																																																																				0.517	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		13	30	0	0	0	1	0	13	30				
FXR2	9513	broad.mit.edu	37	17	7507089	7507089	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7507089C>A	ENST00000250113.7	-	5	769	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	145						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTCTCAGATCCTCGGGCACAG	0.507																																						ENST00000250113.7																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(433-435)gaG>gaT		fragile X mental retardation, autosomal homolog 2							86.0	84.0	85.0					17																	7507089		1952	4135	6087	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7507089C>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.435G>T	17.37:g.7507089C>A	ENSP00000250113:p.Glu145Asp						p.E145D	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	5	769	-			145					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.435G>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225953	0.79576	.	.	ENSG00000129245	ENST00000250113	T	0.43294	0.95	5.49	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.72353	2.195	0.51767	D	0.999939	B;B	0.24258	0.1;0.1	B;B	0.29267	0.1;0.1	T	0.40213	-0.9575	10	0.87932	D	0	-6.0821	6.7968	0.23729	0.0:0.6514:0.0:0.3486	.	145;145	Q86V09;P51116	.;FXR2_HUMAN	D	145	ENSP00000250113:E145D	ENSP00000250113:E145D	E	-	3	2	FXR2	7447814	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.445000	0.21677	0.811000	0.34303	0.561000	0.74099	GAG		0.507	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			21	27	1	0	7.87624e-14	1	1.00187e-13	21	27				
CELSR3	1951	broad.mit.edu	37	3	48689388	48689388	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689388C>T	ENST00000164024.4	-	12	6125	c.5845G>A	c.(5845-5847)Gcc>Acc	p.A1949T	CELSR3_ENST00000544264.1_Missense_Mutation_p.A1949T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1949	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGCACAGGCGTTGGTCACA	0.672																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(5845-5847)Gcc>Acc		cadherin, EGF LAG seven-pass G-type receptor 3							50.0	53.0	52.0					3																	48689388		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48689388C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5845G>A	3.37:g.48689388C>T	ENSP00000164024:p.Ala1949Thr					CELSR3_ENST00000164024.4_Missense_Mutation_p.A1949T	p.A1949T			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	12	6125	-			1949			EGF-like 5; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5845G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655851	0.47467	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.79141	-1.24;-1.24	5.72	1.48	0.22813	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.53981	0.1830	N	0.17594	0.5	0.28294	N	0.92342	B;B	0.14012	0.009;0.007	B;B	0.09377	0.004;0.002	T	0.37407	-0.9707	9	0.11794	T	0.64	.	2.6528	0.05003	0.1255:0.3014:0.3986:0.1745	.	1949;2019	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	1949	ENSP00000164024:A1949T;ENSP00000445694:A1949T	ENSP00000164024:A1949T	A	-	1	0	CELSR3	48664392	0.289000	0.24334	0.994000	0.49952	0.987000	0.75469	0.363000	0.20301	0.688000	0.31529	0.655000	0.94253	GCC		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	56	0	0	0	1	0	7	56				
DBR1	51163	broad.mit.edu	37	3	137890476	137890476	+	Splice_Site	SNP	T	T	G	rs34737927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137890476T>G	ENST00000260803.4	-	3	555	c.402A>C	c.(400-402)aaA>aaC	p.K134N	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	134					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAACAATACCTTTTCGATAGT	0.338																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.e3+1		debranching RNA lariats 1							80.0	82.0	81.0					3																	137890476		2203	4300	6503	SO:0001630	splice_region_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137890476T>G	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.403+1A>C	3.37:g.137890476T>G						DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	p.K134_splice	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			3	555	-			134					Q96GH0|Q9NXQ6	Splice_Site	SNP	ENST00000260803.4	37	c.403_splice	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061471	0.76187	.	.	ENSG00000138231	ENST00000260803	T	0.36520	1.25	5.85	5.85	0.93711	Metallophosphoesterase domain (1);	0.046947	0.85682	D	0.000000	T	0.65852	0.2731	M	0.89030	3	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.72724	-0.4207	10	0.72032	D	0.01	-27.2826	14.2004	0.65699	0.0:0.0:0.0:1.0	.	134	Q9UK59	DBR1_HUMAN	N	134	ENSP00000260803:K134N	ENSP00000260803:K134N	K	-	3	2	DBR1	139373166	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	3.651000	0.54431	2.237000	0.73441	0.459000	0.35465	AAA		0.338	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		Missense_Mutation	7	59	0	0	0	1	0	7	59				
ZNF142	7701	broad.mit.edu	37	2	219521095	219521095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219521095G>T	ENST00000449707.1	-	4	479	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	ZNF142_ENST00000411696.2_Missense_Mutation_p.L20M	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGCACAGTCCATCCATC	0.582																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(58-60)Ctg>Atg		zinc finger protein 142							54.0	60.0	58.0					2																	219521095		1971	4147	6118	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219521095G>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.58C>A	2.37:g.219521095G>T	ENSP00000408643:p.Leu20Met					ZNF142_ENST00000449707.1_Missense_Mutation_p.L20M	p.L20M			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	837	-		Renal(207;0.0474)	20					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.58C>A	CCDS42817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390763|3.390763	0.62066|0.62066	.|.	.|.	ENSG00000115568|ENSG00000115568	ENST00000449707;ENST00000411696;ENST00000450560|ENST00000440934	T;T|.	0.31769|.	1.48;1.48|.	4.69|4.69	3.8|3.8	0.43715|0.43715	.|.	0.174649|.	0.39544|.	N|.	0.001340|.	T|T	0.36552|0.36552	0.0971|0.0971	L|L	0.32530|0.32530	0.975|0.975	0.23685|0.23685	N|N	0.997116|0.997116	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|5	0.87932|.	D|.	0|.	-21.054|-21.054	10.7174|10.7174	0.46021|0.46021	0.0903:0.0:0.9097:0.0|0.0903:0.0:0.9097:0.0	.|.	20|.	P52746|.	ZN142_HUMAN|.	M|N	20|11	ENSP00000408643:L20M;ENSP00000398798:L20M|.	ENSP00000398798:L20M|.	L|T	-|-	1|2	2|0	ZNF142|ZNF142	219229339|219229339	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.715000|0.715000	0.41141|0.41141	5.059000|5.059000	0.64306|0.64306	1.167000|1.167000	0.42706|0.42706	0.563000|0.563000	0.77884|0.77884	CTG|ACT		0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	33	1	0	0.0293803	1	0.0301098	7	33				
XRN1	54464	broad.mit.edu	37	3	142030504	142030504	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142030504G>T	ENST00000264951.4	-	42	5087	c.4970C>A	c.(4969-4971)tCt>tAt	p.S1657Y	XRN1_ENST00000392981.2_Missense_Mutation_p.S1645Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1657					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGCAATCGGAGAGGACTTCAA	0.448																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(4969-4971)tCt>tAt		5'-3' exoribonuclease 1							149.0	152.0	151.0					3																	142030504		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142030504G>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4970C>A	3.37:g.142030504G>T	ENSP00000264951:p.Ser1657Tyr					XRN1_ENST00000392981.2_Missense_Mutation_p.S1645Y	p.S1657Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			42	5087	-			1657					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.4970C>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590975	0.28357	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.33865	1.39;1.39	5.75	5.75	0.90469	.	0.340897	0.31612	N	0.007342	T	0.25382	0.0617	N	0.19112	0.55	0.80722	D	1	B;B	0.33919	0.432;0.306	B;B	0.29785	0.107;0.049	T	0.06661	-1.0814	10	0.54805	T	0.06	-4.6175	14.7604	0.69602	0.0:0.0:0.8556:0.1444	.	1645;1657	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	Y	1657;1645	ENSP00000264951:S1657Y;ENSP00000376707:S1645Y	ENSP00000264951:S1657Y	S	-	2	0	XRN1	143513194	1.000000	0.71417	0.969000	0.41365	0.417000	0.31264	2.618000	0.46393	2.716000	0.92895	0.655000	0.94253	TCT		0.448	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		6	94	1	0	0.00198382	1	0.00210581	6	94				
GABBR1	2550	broad.mit.edu	37	6	29591181	29591181	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29591181T>C	ENST00000377034.4	-	8	1199	c.864A>G	c.(862-864)ccA>ccG	p.P288P	GABBR1_ENST00000376977.3_Silent_p.P288P|GABBR1_ENST00000377012.4_Silent_p.P171P|GABBR1_ENST00000355973.3_Silent_p.P171P|GABBR1_ENST00000377016.4_Silent_p.P226P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	288					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GTGTGGCTGATGGGTGCGTTC	0.562																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(862-864)ccA>ccG		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						148.0	116.0	126.0					6																	29591181		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29591181T>C	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.864A>G	6.37:g.29591181T>C						GABBR1_ENST00000376977.3_Silent_p.P288P|GABBR1_ENST00000377012.4_Silent_p.P171P|GABBR1_ENST00000355973.3_Silent_p.P171P|GABBR1_ENST00000377016.4_Silent_p.P226P	p.P288P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			8	1199	-			288					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.864A>G	CCDS4663.1																																																																																				0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			9	21	0	0	0	1	0	9	21				
SMC6	79677	broad.mit.edu	37	2	17888593	17888593	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17888593A>G	ENST00000448223.2	-	18	2168	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	SMC6_ENST00000351948.4_Silent_p.C633C|SMC6_ENST00000381272.4_Silent_p.C659C|SMC6_ENST00000402989.1_Silent_p.C633C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	633	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGCTTCTCTACAATTTTTGG	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1897-1899)tgT>tgC		structural maintenance of chromosomes 6							103.0	101.0	102.0					2																	17888593		2203	4299	6502	SO:0001819	synonymous_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17888593A>G	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1899T>C	2.37:g.17888593A>G						SMC6_ENST00000381272.4_Silent_p.C659C|SMC6_ENST00000402989.1_Silent_p.C633C|SMC6_ENST00000351948.4_Silent_p.C633C	p.C633C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			18	2168	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		633			Flexible hinge.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	c.1899T>C	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		28	34	0	0	0	1	0	28	34				
TIPARP	25976	broad.mit.edu	37	3	156422529	156422529	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422529G>C	ENST00000461166.1	+	6	2171	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	TIPARP_ENST00000542783.1_Missense_Mutation_p.R528T|TIPARP_ENST00000486483.1_Missense_Mutation_p.R528T|TIPARP_ENST00000295924.7_Missense_Mutation_p.R528T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	528	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATAAATGAGAGACATTTATTT	0.388																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1582-1584)aGa>aCa		TCDD-inducible poly(ADP-ribose) polymerase							109.0	111.0	110.0					3																	156422529		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156422529G>C	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1583G>C	3.37:g.156422529G>C	ENSP00000420612:p.Arg528Thr					TIPARP_ENST00000542783.1_Missense_Mutation_p.R528T|TIPARP_ENST00000486483.1_Missense_Mutation_p.R528T|TIPARP_ENST00000295924.7_Missense_Mutation_p.R528T	p.R528T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		6	2171	+			528			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1583G>C	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.318323|4.318323	0.81469|0.81469	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000481853;ENST00000542783	T|T;T;T;T;T	0.15603|0.15603	2.41|2.41;2.41;2.41;2.41;2.41	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Poly(ADP-ribose) polymerase, catalytic domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50017|0.50017	0.1591|0.1591	M|M	0.87758|0.87758	2.905|2.905	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.76494	.|0.999	.|D	.|0.74674	.|0.984	T|T	0.56535|0.56535	-0.7963|-0.7963	7|10	0.72032|0.87932	D|D	0.01|0	.|.	19.2729|19.2729	0.94018|0.94018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528	.|Q7Z3E1	.|PARPT_HUMAN	D|T	230|528	ENSP00000420141:E230D|ENSP00000418757:R528T;ENSP00000295924:R528T;ENSP00000420612:R528T;ENSP00000418829:R528T;ENSP00000438345:R528T	ENSP00000420141:E230D|ENSP00000295924:R528T	E|R	+|+	3|2	2|0	TIPARP|TIPARP	157905223|157905223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.388	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		12	123	0	0	0	1	0	12	123				
PKHD1	5314	broad.mit.edu	37	6	51484203	51484203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51484203C>T	ENST00000371117.3	-	67	12176	c.11901G>A	c.(11899-11901)gtG>gtA	p.V3967V	RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3967					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGAGCAGGCACAGCAGCCT	0.567																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11899-11901)gtG>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)							103.0	93.0	97.0					6																	51484203		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484203C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11901G>A	6.37:g.51484203C>T						RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA	p.V3967V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			67	12176	-	Lung NSC(77;0.0605)		3967					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11901G>A	CCDS4935.1																																																																																				0.567	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		34	45	0	0	0	1	0	34	45				
CDS2	8760	broad.mit.edu	37	20	5155838	5155838	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5155838C>T	ENST00000460006.1	+	3	511	c.204C>T	c.(202-204)aaC>aaT	p.N68N	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	68					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GATGGAAGAACTGGTGGGTGA	0.443																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(202-204)aaC>aaT		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							307.0	274.0	285.0					20																	5155838		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5155838C>T	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.204C>T	20.37:g.5155838C>T						CDS2_ENST00000379062.4_Intron	p.N68N	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			3	511	+			68					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.204C>T	CCDS13088.1																																																																																				0.443	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			44	72	0	0	0	1	0	44	72				
HEPHL1	341208	broad.mit.edu	37	11	93837825	93837825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93837825G>A	ENST00000315765.9	+	16	2822	c.2814G>A	c.(2812-2814)tgG>tgA	p.W938*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	938	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGAATCCTGGTATCTGGATG	0.358																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2812-2814)tgG>tgA		hephaestin-like 1							150.0	149.0	149.0					11																	93837825		1862	4085	5947	SO:0001587	stop_gained	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837825G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2814G>A	11.37:g.93837825G>A	ENSP00000313699:p.Trp938*						p.W938*	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			16	2822	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	938			Plastocyanin-like 6.		Q3C1W7	Nonsense_Mutation	SNP	ENST00000315765.9	37	c.2814G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	40	8.511134	0.98843	.	.	ENSG00000181333	ENST00000315765	.	.	.	5.66	5.66	0.87406	.	0.135647	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8328	19.7324	0.96188	0.0:0.0:1.0:0.0	.	.	.	.	X	938	.	ENSP00000313699:W938X	W	+	3	0	HEPHL1	93477473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.308000	0.78929	2.663000	0.90544	0.655000	0.94253	TGG		0.358	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		36	70	0	0	0	1	0	36	70				
ATP1A1	476	broad.mit.edu	37	1	116929940	116929940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929940C>A	ENST00000295598.5	+	4	466	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	ATP1A1_ENST00000537345.1_Missense_Mutation_p.L72M|ATP1A1_ENST00000369496.4_Missense_Mutation_p.L41M	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	72					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGCTGAGATCCTGGCGCGAGA	0.502																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(214-216)Ctg>Atg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						89.0	84.0	86.0					1																	116929940		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116929940C>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.214C>A	1.37:g.116929940C>A	ENSP00000295598:p.Leu72Met					ATP1A1_ENST00000295598.5_Missense_Mutation_p.L72M|ATP1A1_ENST00000369496.4_Missense_Mutation_p.L41M	p.L72M	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	4	577	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	72					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.214C>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249822	0.80024	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.34	4.41	0.53225	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91385	0.7282	M	0.93763	3.455	0.80722	D	1	D;D	0.56521	0.97;0.976	D;D	0.70487	0.947;0.969	D	0.92068	0.5662	10	0.72032	D	0.01	.	11.5831	0.50902	0.0:0.8333:0.0:0.1667	.	72;72	F5H3A1;P05023	.;AT1A1_HUMAN	M	41;72;72;41;71;41	ENSP00000400124:L41M;ENSP00000295598:L72M;ENSP00000445306:L72M;ENSP00000358506:L41M;ENSP00000358508:L41M	ENSP00000295598:L72M	L	+	1	2	ATP1A1	116731463	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.397000	0.44477	2.773000	0.95371	0.655000	0.94253	CTG		0.502	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		8	53	1	0	0.000157383	1	0.00017284	8	53				
LRP1B	53353	broad.mit.edu	37	2	141259299	141259299	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141259299C>T	ENST00000389484.3	-	55	9778	c.8807G>A	c.(8806-8808)aGt>aAt	p.S2936N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2936	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAACATCCACTGACTTTCTT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8806-8808)aGt>aAt		low density lipoprotein receptor-related protein 1B							119.0	123.0	122.0					2																	141259299		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259299C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8807G>A	2.37:g.141259299C>T	ENSP00000374135:p.Ser2936Asn	TSP Lung(27;0.18)					p.S2936N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9778	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2936			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8807G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147094	0.77888	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87887	-2.31	5.41	5.41	0.78517	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.000000	0.85682	U	0.000000	D	0.88522	0.6459	N	0.21448	0.665	0.58432	D	0.999998	D	0.69078	0.997	D	0.75484	0.986	D	0.84366	0.0541	10	0.14252	T	0.57	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	2936	Q9NZR2	LRP1B_HUMAN	N	2936;2874	ENSP00000374135:S2936N	ENSP00000374135:S2936N	S	-	2	0	LRP1B	140975769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.705000	0.92388	0.585000	0.79938	AGT		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	82	0	0	0	1	0	8	82				
OR1N2	138882	broad.mit.edu	37	9	125315826	125315826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125315826C>T	ENST00000373688.2	+	1	436	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGTTTGGTGGCCTTGACAACT	0.507																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(376-378)ggC>ggT		olfactory receptor, family 1, subfamily N, member 2							203.0	189.0	194.0					9																	125315826		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315826C>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.378C>T	9.37:g.125315826C>T							p.G126G	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	436	+			126					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.378C>T	CCDS35123.1																																																																																				0.507	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			50	76	0	0	0	1	0	50	76				
HLTF	6596	broad.mit.edu	37	3	148750076	148750076	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148750076A>T	ENST00000310053.5	-	25	3154	c.2961T>A	c.(2959-2961)acT>acA	p.T987T	HLTF_ENST00000392912.2_Silent_p.T987T|HLTF_ENST00000465259.1_Silent_p.T986T|HLTF_ENST00000494055.1_Silent_p.T987T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	987	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with SP1 and SP3.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGGTTTTTTAGTTCCAAAGG	0.299																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2959-2961)acT>acA		helicase-like transcription factor							106.0	99.0	102.0					3																	148750076		2201	4299	6500	SO:0001819	synonymous_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148750076A>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2961T>A	3.37:g.148750076A>T						HLTF_ENST00000494055.1_Silent_p.T987T|HLTF_ENST00000465259.1_Silent_p.T986T|HLTF_ENST00000392912.2_Silent_p.T987T	p.T987T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		25	3154	-			987			Helicase C-terminal.|Interaction with SP1 and SP3.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	c.2961T>A	CCDS33875.1																																																																																				0.299	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			10	24	0	0	0	1	0	10	24				
MLPH	79083	broad.mit.edu	37	2	238434343	238434343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238434343G>A	ENST00000264605.3	+	7	1069	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	MLPH_ENST00000410032.1_Intron|MLPH_ENST00000445024.2_Missense_Mutation_p.E259K|MLPH_ENST00000409373.1_Missense_Mutation_p.E219K|MLPH_ENST00000338530.4_Missense_Mutation_p.E259K|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	259					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTCCCATCCGGAAGAGCAGCC	0.662																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(775-777)Gaa>Aaa		melanophilin							51.0	53.0	52.0					2																	238434343		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238434343G>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.775G>A	2.37:g.238434343G>A	ENSP00000264605:p.Glu259Lys					MLPH_ENST00000410032.1_Intron|MLPH_ENST00000409373.1_Missense_Mutation_p.E219K|MLPH_ENST00000338530.4_Missense_Mutation_p.E259K|MLPH_ENST00000445024.2_Missense_Mutation_p.E259K|MLPH_ENST00000468178.1_3'UTR	p.E259K	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	7	1069	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	259					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.775G>A	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339331	0.41398	.	.	ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T	0.29917	2.03;2.02;1.8;1.55	3.35	-0.792	0.10925	.	1.979840	0.03073	U	0.157494	T	0.32912	0.0845	L	0.52573	1.65	0.09310	N	1	P;P;P;P;P;P	0.49090	0.877;0.919;0.862;0.763;0.915;0.594	B;B;B;B;P;B	0.49887	0.417;0.324;0.421;0.242;0.625;0.231	T	0.22695	-1.0209	10	0.15952	T	0.53	0.6921	4.2109	0.10510	0.2317:0.3455:0.4228:0.0	.	259;143;259;219;259;259	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36	.;.;.;.;.;MELPH_HUMAN	K	259;259;259;219	ENSP00000264605:E259K;ENSP00000414849:E259K;ENSP00000341845:E259K;ENSP00000386780:E219K	ENSP00000264605:E259K	E	+	1	0	MLPH	238099082	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.516000	0.22817	-0.162000	0.10964	-0.251000	0.11542	GAA		0.662	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		19	38	0	0	0	1	0	19	38				
ADPRH	141	broad.mit.edu	37	3	119305312	119305312	+	Missense_Mutation	SNP	G	G	A	rs189558030		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119305312G>A	ENST00000478399.1	+	3	1884	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000357003.3_Missense_Mutation_p.R160Q|ADPRH_ENST00000478927.1_Missense_Mutation_p.R160Q			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	160					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GAGAGTGGTCGGATGACCCAC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18385	0.0		0.0	False		,,,				2504	0.0				GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(478-480)cGg>cAg		ADP-ribosylarginine hydrolase		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	156.0	152.0	153.0		479	5.5	1.0	3		153	0,8600		0,0,4300	no	missense	ADPRH	NM_001125.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	160/358	119305312	1,13005	2203	4300	6503	SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305312G>A	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.479G>A	3.37:g.119305312G>A	ENSP00000420200:p.Arg160Gln					ADPRH_ENST00000478927.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000465513.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Missense_Mutation_p.R160Q	p.R160Q			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	1884	+		Lung NSC(201;0.0977)	160					B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	c.479G>A	CCDS2990.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.729775	0.96856	2.27E-4	0.0	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52019	-0.8631	10	0.24483	T	0.36	-33.9455	17.0271	0.86450	0.0:0.0:1.0:0.0	.	160	P54922	ADPRH_HUMAN	Q	160	ENSP00000420200:R160Q;ENSP00000417528:R160Q;ENSP00000349496:R160Q;ENSP00000417430:R160Q	ENSP00000349496:R160Q	R	+	2	0	ADPRH	120788002	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.794000	0.91867	2.884000	0.98904	0.655000	0.94253	CGG		0.587	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		77	107	0	0	0	1	0	77	107				
GBX1	2636	broad.mit.edu	37	7	150846052	150846052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150846052C>A	ENST00000297537.4	-	2	715	c.716G>T	c.(715-717)aGc>aTc	p.S239I	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	239					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCCCAGGCTTCCCTTTAG	0.642																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(715-717)aGc>aTc		gastrulation brain homeobox 1							110.0	122.0	118.0					7																	150846052		1902	4096	5998	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846052C>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.716G>T	7.37:g.150846052C>A	ENSP00000297537:p.Ser239Ile						p.S239I	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	715	-			239						Missense_Mutation	SNP	ENST00000297537.4	37	c.716G>T	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280613	0.40294	.	.	ENSG00000164900	ENST00000297537	D	0.92397	-3.03	4.82	3.94	0.45596	Homeodomain-like (1);	0.256789	0.38897	N	0.001529	T	0.81479	0.4831	N	0.14661	0.345	0.80722	D	1	P	0.41748	0.761	B	0.35413	0.202	T	0.79683	-0.1701	10	0.41790	T	0.15	-14.0126	8.2436	0.31675	0.0:0.7569:0.1565:0.0866	.	239	Q14549	GBX1_HUMAN	I	239	ENSP00000297537:S239I	ENSP00000297537:S239I	S	-	2	0	GBX1	150476985	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	3.556000	0.53734	1.175000	0.42826	-0.229000	0.12294	AGC		0.642	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			8	200	1	0	0.00307968	1	0.00325696	8	200				
TPH1	7166	broad.mit.edu	37	11	18054868	18054868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18054868C>T	ENST00000250018.2	-	3	917	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	TPH1_ENST00000341556.2_Missense_Mutation_p.A119T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	119					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTCTGTTGGCACAATGGTCC	0.358																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(355-357)Gcc>Acc		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						155.0	159.0	158.0					11																	18054868		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18054868C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.355G>A	11.37:g.18054868C>T	ENSP00000250018:p.Ala119Thr					TPH1_ENST00000341556.2_Missense_Mutation_p.A119T	p.A119T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			3	917	-			119					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.355G>A	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568809	0.86439	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99571	-6.19;-6.19;-6.19	5.59	5.59	0.84812	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.85777	2.775	0.80722	D	1	D	0.57571	0.98	P	0.55871	0.786	D	0.99910	1.1197	10	0.30854	T	0.27	-17.3408	19.5955	0.95536	0.0:1.0:0.0:0.0	.	119	P17752	TPH1_HUMAN	T	119;119;129	ENSP00000250018:A119T;ENSP00000343550:A119T;ENSP00000436081:A129T	ENSP00000250018:A119T	A	-	1	0	TPH1	18011444	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.912000	0.56386	2.638000	0.89438	0.650000	0.86243	GCC		0.358	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		68	153	0	0	0	1	0	68	153				
ARNTL2	56938	broad.mit.edu	37	12	27521253	27521253	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27521253T>C	ENST00000266503.5	+	2	108	c.90T>C	c.(88-90)agT>agC	p.S30S	ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000261178.5_Silent_p.S30S|ARNTL2_ENST00000311001.5_Silent_p.S30S|ARNTL2_ENST00000542388.1_5'Flank|ARNTL2_ENST00000546179.1_Silent_p.S41S|ARNTL2_ENST00000544915.1_Silent_p.S30S|ARNTL2_ENST00000395901.2_Silent_p.S41S			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	30					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GCCGCGTGAGTCCAGGGACAA	0.468																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(88-90)agT>agC		aryl hydrocarbon receptor nuclear translocator-like 2							127.0	107.0	114.0					12																	27521253		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27521253T>C	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.90T>C	12.37:g.27521253T>C						ARNTL2_ENST00000266503.5_Silent_p.S30S|ARNTL2_ENST00000261178.5_Silent_p.S30S|ARNTL2_ENST00000546179.1_Silent_p.S41S|ARNTL2_ENST00000311001.5_Silent_p.S30S|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000395901.2_Silent_p.S41S	p.S30S	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			2	309	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		30					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.90T>C	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	T	6.684	0.494791	0.12702	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.39	2.48	0.30137	.	.	.	.	.	T	0.52240	0.1722	.	.	.	0.46499	D	0.999075	.	.	.	.	.	.	T	0.44952	-0.9294	4	.	.	.	.	5.1108	0.14808	0.0:0.7269:0.0:0.2731	.	.	.	.	A	9	.	.	V	+	2	0	ARNTL2	27412520	0.011000	0.17503	0.691000	0.30163	0.016000	0.09150	0.089000	0.15002	0.981000	0.38548	-0.415000	0.06103	GTC		0.468	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		22	31	0	0	0	1	0	22	31				
GRIA2	2891	broad.mit.edu	37	4	158257812	158257812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257812G>T	ENST00000264426.9	+	11	2036	c.1757G>T	c.(1756-1758)aGt>aTt	p.S586I	GRIA2_ENST00000449365.1_Missense_Mutation_p.S539I|GRIA2_ENST00000393815.2_Missense_Mutation_p.S539I|GRIA2_ENST00000296526.7_Missense_Mutation_p.S586I|GRIA2_ENST00000507898.1_Missense_Mutation_p.S539I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	586					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACACAAAGTAGTGAATCAACT	0.433																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1756-1758)aGt>aTt		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						146.0	145.0	145.0					4																	158257812		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257812G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1757G>T	4.37:g.158257812G>T	ENSP00000264426:p.Ser586Ile					GRIA2_ENST00000393815.2_Missense_Mutation_p.S539I|GRIA2_ENST00000449365.1_Missense_Mutation_p.S539I|GRIA2_ENST00000264426.9_Missense_Mutation_p.S586I|GRIA2_ENST00000507898.1_Missense_Mutation_p.S539I	p.S586I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	2082	+	all_hematologic(180;0.24)	Renal(120;0.0458)	586					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1757G>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328851	0.41197	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.66	4.59	0.56863	Ionotropic glutamate receptor (2);	0.087527	0.85682	D	0.000000	T	0.41026	0.1141	N	0.04959	-0.14	0.35044	D	0.760043	B;B;B	0.26041	0.14;0.041;0.055	P;B;B	0.46659	0.523;0.023;0.029	T	0.53599	-0.8416	10	0.72032	D	0.01	.	4.2114	0.10514	0.3085:0.0:0.6915:0.0	.	586;586;539	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	I	539;539;586;586;539	ENSP00000426845:S539I;ENSP00000377403:S539I;ENSP00000296526:S586I;ENSP00000264426:S586I;ENSP00000389837:S539I	ENSP00000264426:S586I	S	+	2	0	GRIA2	158477262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.775000	0.55349	2.826000	0.97356	0.655000	0.94253	AGT		0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			12	107	1	0	3.07112e-06	1	3.52574e-06	12	107				
PGR	5241	broad.mit.edu	37	11	100998621	100998621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100998621G>A	ENST00000325455.5	-	1	2634	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	PGR_ENST00000263463.5_Missense_Mutation_p.A394V|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	394	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGAGGCCTCCGCGCCTTCCTC	0.701																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1180-1182)gCg>gTg		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						8.0	11.0	10.0					11																	100998621		1991	4023	6014	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998621G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1181C>T	11.37:g.100998621G>A	ENSP00000325120:p.Ala394Val					PGR_ENST00000263463.5_Missense_Mutation_p.A394V|PGR_ENST00000534013.1_Intron	p.A394V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2634	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	394			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1181C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063690	0.36373	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.06142	3.34;3.34	4.02	1.95	0.26073	.	1.515630	0.04627	N	0.403032	T	0.07098	0.0180	L	0.46614	1.455	0.09310	N	0.999992	B;P	0.40144	0.423;0.704	B;B	0.38327	0.023;0.271	T	0.32693	-0.9897	10	0.29301	T	0.29	.	4.3883	0.11328	0.1379:0.2612:0.601:0.0	.	394;394	Q8TDS3;P06401	.;PRGR_HUMAN	V	394	ENSP00000325120:A394V;ENSP00000263463:A394V	ENSP00000263463:A394V	A	-	2	0	PGR	100503831	0.000000	0.05858	0.997000	0.53966	0.656000	0.38851	-0.080000	0.11339	1.769000	0.52152	0.455000	0.32223	GCG		0.701	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			5	11	0	0	0	1	0	5	11				
VARS	7407	broad.mit.edu	37	6	31760029	31760029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31760029G>A	ENST00000375663.3	-	6	1276	c.836C>T	c.(835-837)aCc>aTc	p.T279I	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	279					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGGTCATAGGTAATGACCCC	0.552																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(835-837)aCc>aTc		valyl-tRNA synthetase	L-Valine(DB00161)						86.0	84.0	85.0					6																	31760029		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760029G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.836C>T	6.37:g.31760029G>A	ENSP00000364815:p.Thr279Ile					VARS_ENST00000444930.2_5'UTR	p.T279I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			6	1276	-			279					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.836C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306040	0.40795	.	.	ENSG00000204394	ENST00000375663	T	0.04360	3.64	5.13	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.03053	0.0090	L	0.54323	1.7	0.80722	D	1	P	0.41546	0.754	B	0.39185	0.293	T	0.46830	-0.9163	10	0.44086	T	0.13	-9.5832	11.8928	0.52638	0.0889:0.0:0.9111:0.0	.	279	P26640	SYVC_HUMAN	I	279	ENSP00000364815:T279I	ENSP00000364815:T279I	T	-	2	0	VARS	31868008	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.505000	0.60421	2.380000	0.81148	0.313000	0.20887	ACC		0.552	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		27	40	0	0	0	1	0	27	40				
DEFB132	400830	broad.mit.edu	37	20	238458	238458	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:238458C>A	ENST00000382376.3	+	1	82	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	13					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCCTCGGATTCCTGACCCAGG	0.522																																						ENST00000382376.3																			0				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(37-39)ttC>ttA		defensin, beta 132							91.0	77.0	82.0					20																	238458		2203	4300	6503	SO:0001583	missense	400830				defense response to bacterium	extracellular region		g.chr20:238458C>A	AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"""Defensins, beta"""	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.39C>A	20.37:g.238458C>A	ENSP00000371813:p.Phe13Leu						p.F13L	NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN			1	82	+			13					B2RP72|Q4QY40	Missense_Mutation	SNP	ENST00000382376.3	37	c.39C>A	CCDS12993.1	.	.	.	.	.	.	.	.	.	.	C	8.355	0.831711	0.16820	.	.	ENSG00000186458	ENST00000382376	T	0.08546	3.08	4.26	-1.05	0.10036	.	0.450627	0.16551	N	0.209496	T	0.05502	0.0145	.	.	.	0.09310	N	0.999997	B	0.27351	0.176	B	0.26517	0.07	T	0.30995	-0.9959	9	0.87932	D	0	.	3.9547	0.09385	0.0:0.3994:0.1811:0.4195	.	13	Q7Z7B7	DB132_HUMAN	L	13	ENSP00000371813:F13L	ENSP00000371813:F13L	F	+	3	2	DEFB132	186458	0.970000	0.33590	0.418000	0.26571	0.018000	0.09664	0.180000	0.16860	-0.044000	0.13491	-0.172000	0.13284	TTC		0.522	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	NM_207469		5	27	1	0	0.00116845	1	0.00124821	5	27				
USP34	9736	broad.mit.edu	37	2	61433181	61433181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61433181C>A	ENST00000398571.2	-	72	9201	c.9125G>T	c.(9124-9126)aGt>aTt	p.S3042I	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3042					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTCTGGAGGACTATAGGAATT	0.363																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9124-9126)aGt>aTt		ubiquitin specific peptidase 34							122.0	113.0	116.0					2																	61433181		1818	4071	5889	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61433181C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9125G>T	2.37:g.61433181C>A	ENSP00000381577:p.Ser3042Ile						p.S3042I	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		72	9201	-			3042					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9125G>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.024762|4.024762	0.75390|0.75390	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.66995|.	-0.24|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Armadillo-type fold (1);|.	0.074953|.	0.85682|.	D|.	0.000000|.	T|.	0.47783|.	0.1464|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	D|.	0.69142|.	0.962|.	T|.	0.41610|.	-0.9499|.	10|.	0.66056|.	D|.	0.02|.	.|.	19.918|19.918	0.97070|0.97070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3042|.	Q70CQ2|.	UBP34_HUMAN|.	I|Y	2890;2807;3042|801	ENSP00000381577:S3042I|.	ENSP00000263989:S2890I|.	S|X	-|-	2|3	0|2	USP34|USP34	61286685|61286685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	AGT|TAG		0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			40	59	1	0	4.01765e-15	1	5.14825e-15	40	59				
CHDC2	286464	broad.mit.edu	37	X	36162799	36162799	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:36162799G>T	ENST00000313548.4	+	11	1568	c.1382G>T	c.(1381-1383)aGa>aTa	p.R461I		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	461	CH.					integral component of membrane (GO:0016021)											agaacaaagagacagaagaag	0.438																																						ENST00000378660.1																			0											c.(1381-1383)aGa>aTa		calponin homology domain containing 2							118.0	102.0	108.0					X																	36162799		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36162799G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1382G>T	X.37:g.36162799G>T	ENSP00000324767:p.Arg461Ile					CHDC2_ENST00000313548.4_Missense_Mutation_p.R461I	p.R461I							11	1570	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.1382G>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	6.856	0.527188	0.13066	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	0.694	0.694	0.18062	.	32.701300	0.00397	U	0.000043	T	0.37571	0.1008	N	0.08118	0	0.09310	N	1	D	0.58970	0.984	P	0.62435	0.902	T	0.42616	-0.9441	8	0.62326	D	0.03	.	.	.	.	.	461	Q8N9S7	CX059_HUMAN	I	461	.	ENSP00000324767:R461I	R	+	2	0	CXorf59	36072720	0.208000	0.23494	0.004000	0.12327	0.004000	0.04260	0.529000	0.23019	0.595000	0.29777	0.600000	0.82982	AGA		0.438	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		15	22	1	0	6.31663e-08	1	7.49729e-08	15	22				
ANPEP	290	broad.mit.edu	37	15	90347138	90347138	+	Silent	SNP	C	C	T	rs369610508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90347138C>T	ENST00000300060.6	-	7	1588	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	425	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.A425A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGGTGGGCTCCGCATAGTCAG	0.632																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			1	Substitution - coding silent(1)	p.A425A(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1273-1275)gcG>gcA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)	C		0,4400		0,0,2200	62.0	58.0	60.0		1275	-4.6	1.0	15		60	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ANPEP	NM_001150.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		425/968	90347138	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90347138C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1275G>A	15.37:g.90347138C>T							p.A425A	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		7	1588	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		425			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.1275G>A	CCDS10356.1																																																																																				0.632	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			7	24	0	0	0	1	0	7	24				
LAMA2	3908	broad.mit.edu	37	6	129835534	129835534	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129835534A>G	ENST00000421865.2	+	64	9054	c.9005A>G	c.(9004-9006)gAc>gGc	p.D3002G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3002	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTCATGTGGACAATGGTGCG	0.428																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(9004-9006)gAc>gGc		laminin, alpha 2							104.0	81.0	89.0					6																	129835534		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129835534A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9005A>G	6.37:g.129835534A>G	ENSP00000400365:p.Asp3002Gly						p.D3002G	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	64	9054	+			3002			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.9005A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611860	0.66558	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.48836	0.8	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68387	-0.5422	9	.	.	.	.	15.7688	0.78149	1.0:0.0:0.0:0.0	.	3003;3002	A6NF00;P24043	.;LAMA2_HUMAN	G	3002;3001;3002;1020	ENSP00000400365:D3002G	.	D	+	2	0	LAMA2	129877227	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.054000	0.93866	2.134000	0.65973	0.533000	0.62120	GAC		0.428	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			14	23	0	0	0	1	0	14	23				
TTC6	319089	broad.mit.edu	37	14	38296400	38296400	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38296400G>T	ENST00000476979.1	+	11	1316		c.e11-1		TTC6_ENST00000267368.7_Splice_Site|TTC6_ENST00000553443.1_Splice_Site|TTC6_ENST00000382320.3_Splice_Site|RNU6-1277P_ENST00000364561.1_RNA			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6											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)		TTATACTGCAGATCAGTACTA	0.363																																						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.e29-1		tetratricopeptide repeat domain 6							67.0	66.0	66.0					14																	38296400		2203	4300	6503	SO:0001630	splice_region_variant	319089							g.chr14:38296400G>T	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.1030-1G>T	14.37:g.38296400G>T						TTC6_ENST00000267368.7_Splice_Site|TTC6_ENST00000382320.3_Splice_Site|TTC6_ENST00000476979.1_Splice_Site						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)	29	5127	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Splice_Site	SNP	ENST00000476979.1	37			.	.	.	.	.	.	.	.	.	.	G	15.26	2.782067	0.49891	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1906	0.86878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC6	37366151	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.079000	0.57613	2.404000	0.81709	0.591000	0.81541	.		0.363	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299	Intron	18	35	1	0	9.16793e-09	1	1.10245e-08	18	35				
MFAP2	4237	broad.mit.edu	37	1	17303391	17303391	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303391C>A	ENST00000375535.3	-	4	444		c.e4+1		MFAP2_ENST00000438542.1_Splice_Site|MFAP2_ENST00000375534.3_Splice_Site|MFAP2_ENST00000490075.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2						extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCCCGTTACCTTGATAATC	0.582																																						ENST00000375535.3																			0				kidney(1)|lung(1)	2						c.e4+1		microfibrillar-associated protein 2							109.0	126.0	120.0					1																	17303391		2203	4300	6503	SO:0001630	splice_region_variant	4237					microfibril		g.chr1:17303391C>A	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.154+1G>T	1.37:g.17303391C>A						MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Splice_Site|MFAP2_ENST00000375534.3_Splice_Site				P55001	MFAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	4	444	-		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)						Q53X60|Q5JXY0	Splice_Site	SNP	ENST00000375535.3	37		CCDS174.1	.	.	.	.	.	.	.	.	.	.	c	11.84	1.760125	0.31137	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	3.84	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8534	0.35214	0.2245:0.7755:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFAP2	17175978	1.000000	0.71417	0.687000	0.30102	0.516000	0.34256	2.620000	0.46410	0.721000	0.32231	0.457000	0.33378	.		0.582	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403	Intron	58	116	1	0	6.70656e-16	1	8.62836e-16	58	116				
EDEM3	80267	broad.mit.edu	37	1	184723757	184723757	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184723757G>T	ENST00000318130.8	-	1	290	c.24C>A	c.(22-24)ggC>ggA	p.G8G	EDEM3_ENST00000367512.3_5'Flank	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	8					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGACCCACAGCCCCGGCCGC	0.751																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(22-24)ggC>ggA		ER degradation enhancer, mannosidase alpha-like 3							5.0	7.0	6.0					1																	184723757		674	1565	2239	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184723757G>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.24C>A	1.37:g.184723757G>T							p.G8G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			1	290	-			8					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.24C>A	CCDS1363.2																																																																																				0.751	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		3	5	1	0	6.4e-05	1	7.11719e-05	3	5				
GTF3C1	2975	broad.mit.edu	37	16	27518347	27518347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518347A>G	ENST00000356183.4	-	9	1388	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L458P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	458					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATAGACGCCAGGCTCACGGT	0.597																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1372-1374)cTg>cCg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							65.0	59.0	61.0					16																	27518347		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27518347A>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1373T>C	16.37:g.27518347A>G	ENSP00000348510:p.Leu458Pro					GTF3C1_ENST00000561623.1_Missense_Mutation_p.L458P	p.L458P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			9	1388	-			458					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1373T>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040790	0.35989	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	4.92	4.92	0.64577	.	0.374716	0.24717	N	0.036168	T	0.45955	0.1368	M	0.66939	2.045	0.58432	D	0.999997	P;D	0.89917	0.78;1.0	B;D	0.77557	0.247;0.99	T	0.41413	-0.9510	10	0.54805	T	0.06	-3.1628	9.6539	0.39914	0.9172:0.0:0.0828:0.0	.	458;458	Q12789;Q12789-3	TF3C1_HUMAN;.	P	458;456	ENSP00000348510:L458P	ENSP00000348510:L458P	L	-	2	0	GTF3C1	27425848	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.451000	0.44952	1.852000	0.53769	0.528000	0.53228	CTG		0.597	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	37	0	0	0	1	0	5	37				
PZP	5858	broad.mit.edu	37	12	9307414	9307414	+	Missense_Mutation	SNP	C	C	T	rs200818607		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9307414C>T	ENST00000261336.2	-	29	3600	c.3572G>A	c.(3571-3573)cGc>cAc	p.R1191H	PZP_ENST00000381997.2_Missense_Mutation_p.R977H	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1191					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTCTGAGGGCGCTCCCAATG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0				Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(3571-3573)cGc>cAc		pregnancy-zone protein							58.0	59.0	59.0					12																	9307414		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9307414C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3572G>A	12.37:g.9307414C>T	ENSP00000261336:p.Arg1191His					PZP_ENST00000381997.2_Missense_Mutation_p.R977H	p.R1191H	NM_002864.2	NP_002855.2					29	3600	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3572G>A	CCDS8600.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.10	2.731979	0.48939	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.34859	1.34;1.34	4.03	2.15	0.27550	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.222293	0.29431	U	0.012174	T	0.60625	0.2283	M	0.89163	3.01	0.09310	N	1	D;D	0.89917	1.0;0.995	D;P	0.68765	0.96;0.902	T	0.54556	-0.8276	10	0.66056	D	0.02	.	10.1457	0.42762	0.0:0.8264:0.0:0.1736	.	977;1191	P20742-2;P20742	.;PZP_HUMAN	H	1191;977	ENSP00000261336:R1191H;ENSP00000371427:R977H	ENSP00000261336:R1191H	R	-	2	0	PZP	9198681	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.133000	0.15912	0.419000	0.25927	0.563000	0.77884	CGC		0.468	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	22	0	0	0	1	0	7	22				
KRT75	9119	broad.mit.edu	37	12	52824343	52824343	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52824343C>T	ENST00000252245.5	-	5	1237	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	339	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGTACCAGGACTCAGCCTCGG	0.542																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1015-1017)gaG>gaA		keratin 75							169.0	154.0	159.0					12																	52824343		2203	4300	6503	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52824343C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1017G>A	12.37:g.52824343C>T							p.E339E	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	5	1237	-			339			Coil 2.|Rod.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.1017G>A	CCDS8827.1																																																																																				0.542	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		30	67	0	0	0	1	0	30	67				
UBR1	197131	broad.mit.edu	37	15	43350539	43350539	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43350539C>A	ENST00000290650.4	-	10	1260	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	UBR1_ENST00000382177.2_Splice_Site_p.K394N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	394					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAATAATTACCTTCACAAATT	0.254																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.e10+1		ubiquitin protein ligase E3 component n-recognin 1							19.0	22.0	21.0					15																	43350539		2167	4267	6434	SO:0001630	splice_region_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43350539C>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1182+1G>T	15.37:g.43350539C>A						UBR1_ENST00000382177.2_Splice_Site_p.K394_splice	p.K394_splice	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	10	1260	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	394					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Splice_Site	SNP	ENST00000290650.4	37	c.1182_splice	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033329	0.75504	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.71934	0.22;-0.61	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	L	0.56280	1.765	0.80722	D	1	P;D	0.76494	0.551;0.999	B;D	0.64144	0.334;0.922	T	0.79191	-0.1905	9	.	.	.	-8.9217	17.8993	0.88898	0.0:1.0:0.0:0.0	.	394;394	B4DYL2;Q8IWV7	.;UBR1_HUMAN	N	394	ENSP00000290650:K394N;ENSP00000371612:K394N	.	K	-	3	2	UBR1	41137831	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.502000	0.73695	2.441000	0.82636	0.557000	0.71058	AAG		0.254	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	Missense_Mutation	4	30	1	0	0.00909568	1	0.00947522	4	30				
PHF21B	112885	broad.mit.edu	37	22	45309846	45309846	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45309846G>A	ENST00000313237.5	-	5	837	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	229							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGATGACCTGGAAGATGCCAT	0.647																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(685-687)ttC>ttT		PHD finger protein 21B							70.0	69.0	69.0					22																	45309846		2203	4300	6503	SO:0001819	synonymous_variant	112885						zinc ion binding	g.chr22:45309846G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.687C>T	22.37:g.45309846G>A						PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron	p.F229F	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	5	837	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	229					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	37	c.687C>T	CCDS14061.1																																																																																				0.647	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		37	44	0	0	0	1	0	37	44				
PPFIA2	8499	broad.mit.edu	37	12	81676815	81676815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81676815C>A	ENST00000549396.1	-	26	3152	c.2992G>T	c.(2992-2994)Gaa>Taa	p.E998*	PPFIA2_ENST00000541570.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E983*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E845*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E977*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E903*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E899*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E983*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	998					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTCAGATTCTTTCTGTGTT	0.318																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2992-2994)Gaa>Taa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							75.0	67.0	69.0					12																	81676815		1812	4075	5887	SO:0001587	stop_gained	8499							g.chr12:81676815C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2992G>T	12.37:g.81676815C>A	ENSP00000450337:p.Glu998*					PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E998*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E899*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E845*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E983*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E903*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E983*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E977*	p.E998*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			25	3287	-			903					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.2992G>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.375995|5.375995	0.95923|0.95923	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.174209|.	0.49305|.	D|.	0.000147|.	.|T	.|0.76528	.|0.4000	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74278	.|-0.3717	.|4	0.33141|.	T|.	0.24|.	-21.2535|-21.2535	19.9103|19.9103	0.97024|0.97024	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	998;983;903;1009;983;998;899;977|142	.|.	ENSP00000327416:E983X|.	E|R	-|-	1|2	0|0	PPFIA2|PPFIA2	80200946|80200946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.157000|5.157000	0.64911|0.64911	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.318	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			9	16	1	0	0.000442599	1	0.00048047	9	16				
PRICKLE2	166336	broad.mit.edu	37	3	64184478	64184478	+	Silent	SNP	C	C	T	rs145790169		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184478C>T	ENST00000295902.6	-	2	711	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PRICKLE2_ENST00000564377.1_Silent_p.P98P|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	42	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTCAGACCCGGCGGGACCC	0.512																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(124-126)ccG>ccA		prickle homolog 2 (Drosophila)		C		1,4405	2.1+/-5.4	0,1,2202	123.0	95.0	105.0		126	-8.5	0.2	3	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	PRICKLE2	NM_198859.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		42/845	64184478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64184478C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.126G>A	3.37:g.64184478C>T						PRICKLE2_ENST00000564377.1_Silent_p.P98P|PRICKLE2-AS3_ENST00000473434.1_RNA	p.P42P	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	2	711	-		Lung NSC(201;0.136)	42			PET.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.126G>A	CCDS2902.1																																																																																				0.512	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		18	23	0	0	0	1	0	18	23				
SLCO1B3	28234	broad.mit.edu	37	12	21069117	21069117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21069117C>T	ENST00000381545.3	+	16	2264	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P682L|LST3_ENST00000540229.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	682					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CATTTTGTACCTTCTGCTGGA	0.328																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(2044-2046)cCt>cTt		solute carrier organic anion transporter family, member 1B3							95.0	93.0	94.0					12																	21069117		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21069117C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.2045C>T	12.37:g.21069117C>T	ENSP00000370956:p.Pro682Leu					LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P682L	p.P682L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			16	2264	+	Esophageal squamous(101;0.149)		682					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.2045C>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	9.411	1.080608	0.20309	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.35789	1.29;1.29	3.16	2.22	0.28083	.	1.769190	0.02474	N	0.087839	T	0.38799	0.1054	L	0.54323	1.7	0.09310	N	0.999992	B	0.19935	0.04	B	0.19946	0.027	T	0.33059	-0.9883	10	0.62326	D	0.03	.	8.4675	0.32964	0.0:0.7597:0.2403:0.0	.	682	Q9NPD5	SO1B3_HUMAN	L	682	ENSP00000261196:P682L;ENSP00000370956:P682L	ENSP00000261196:P682L	P	+	2	0	SLCO1B3	20960384	0.013000	0.17824	0.056000	0.19401	0.052000	0.14988	1.610000	0.36869	0.407000	0.25591	0.297000	0.19635	CCT		0.328	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		16	37	0	0	0	1	0	16	37				
EGR1	1958	broad.mit.edu	37	5	137803019	137803019	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137803019C>T	ENST00000239938.4	+	2	1153	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	294					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(880-882)gCc>gTc		early growth response 1							93.0	104.0	100.0					5																	137803019		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803019C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.881C>T	5.37:g.137803019C>T	ENSP00000239938:p.Ala294Val						p.A294V	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1153	+			294						Missense_Mutation	SNP	ENST00000239938.4	37	c.881C>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530999	0.64972	.	.	ENSG00000120738	ENST00000239938	T	0.10005	2.92	5.16	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.85197	2.74	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	T	0.39502	-0.9611	10	0.87932	D	0	-24.9712	15.6049	0.76658	0.0:0.8618:0.1382:0.0	.	294	P18146	EGR1_HUMAN	V	294	ENSP00000239938:A294V	ENSP00000239938:A294V	A	+	2	0	EGR1	137830918	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	1.143000	0.42306	0.557000	0.71058	GCC		0.627	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		47	76	0	0	0	1	0	47	76				
NDST2	8509	broad.mit.edu	37	10	75566178	75566178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75566178C>T	ENST00000309979.6	-	6	1859	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	NDST2_ENST00000299641.4_Missense_Mutation_p.V312M|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.V435M			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	435	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ATGGGGTACACACCCGAGTGG	0.617																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(934-936)Gtg>Atg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							51.0	48.0	49.0					10																	75566178		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75566178C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1303G>A	10.37:g.75566178C>T	ENSP00000310657:p.Val435Met					NDST2_ENST00000309979.6_Missense_Mutation_p.V435M	p.V312M	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			7	1904	-	Prostate(51;0.0112)		435			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.934G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410641	0.83340	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.56444	0.71;0.46	5.98	5.98	0.97165	.	0.116779	0.56097	D	0.000027	T	0.78336	0.4267	M	0.86740	2.835	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.994	D;D;D	0.79108	0.983;0.992;0.98	T	0.80495	-0.1357	10	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	312;105;435	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	M	435;312	ENSP00000310657:V435M;ENSP00000299641:V312M	ENSP00000299641:V312M	V	-	1	0	NDST2	75236184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.847000	0.97988	0.591000	0.81541	GTG		0.617	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		18	23	0	0	0	1	0	18	23				
KRT24	192666	broad.mit.edu	37	17	38859507	38859507	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38859507G>T	ENST00000264651.2	-	1	495	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	147	Coil 1A.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CGGTCATTGAGGTTCTGCATG	0.512																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(439-441)Ctc>Atc		keratin 24							219.0	221.0	220.0					17																	38859507		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859507G>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.439C>A	17.37:g.38859507G>T	ENSP00000264651:p.Leu147Ile						p.L147I	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	495	-		Breast(137;0.00526)	147			Coil 1A.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.439C>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304339	0.95601	.	.	ENSG00000167916	ENST00000264651	D	0.96716	-4.1	5.6	5.6	0.85130	Filament (1);	.	.	.	.	D	0.98985	0.9654	H	0.98256	4.185	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.99222	1.0879	9	0.87932	D	0	.	18.9654	0.92694	0.0:0.0:1.0:0.0	.	147	Q2M2I5	K1C24_HUMAN	I	147	ENSP00000264651:L147I	ENSP00000264651:L147I	L	-	1	0	KRT24	36113033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.744000	0.98853	2.800000	0.96347	0.655000	0.94253	CTC		0.512	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		15	168	1	0	4.7546e-09	1	5.74312e-09	15	168				
KIAA1377	57562	broad.mit.edu	37	11	101815130	101815130	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101815130G>A	ENST00000263468.8	+	3	653	c.383G>A	c.(382-384)cGg>cAg	p.R128Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	128										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTTTCACAGCGGAGGAAAGCA	0.338																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(382-384)cGg>cAg		KIAA1377							70.0	69.0	70.0					11																	101815130		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101815130G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.383G>A	11.37:g.101815130G>A	ENSP00000263468:p.Arg128Gln						p.R128Q	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	3	653	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	128					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.383G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900507	0.92035	.	.	ENSG00000110318	ENST00000263468	T	0.14022	2.54	6.02	6.02	0.97574	.	0.060759	0.64402	D	0.000011	T	0.41073	0.1143	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.06481	-1.0824	10	0.62326	D	0.03	-11.7537	19.3185	0.94226	0.0:0.0:1.0:0.0	.	128	Q9P2H0	K1377_HUMAN	Q	128	ENSP00000263468:R128Q	ENSP00000263468:R128Q	R	+	2	0	KIAA1377	101320340	0.978000	0.34361	0.970000	0.41538	0.876000	0.50452	3.247000	0.51422	2.850000	0.98022	0.650000	0.86243	CGG		0.338	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		8	49	0	0	0	1	0	8	49				
FRAS1	80144	broad.mit.edu	37	4	79434660	79434660	+	Silent	SNP	C	C	T	rs369331788		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79434660C>T	ENST00000264895.6	+	65	10568	c.10128C>T	c.(10126-10128)caC>caT	p.H3376H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3372					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACACCAGCACGTCTGCTCCA	0.498																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10126-10128)caC>caT		Fraser syndrome 1							177.0	170.0	173.0					4																	79434660		2036	4191	6227	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79434660C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10128C>T	4.37:g.79434660C>T							p.H3376H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			65	10568	+			3371					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.10128C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	8.505	0.865228	0.17250	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.44	1.25	0.21368	.	.	.	.	.	T	0.58779	0.2146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51108	-0.8747	4	.	.	.	.	10.7971	0.46466	0.0:0.4731:0.0:0.5269	.	.	.	.	C	1605	.	.	R	+	1	0	FRAS1	79653684	0.396000	0.25262	0.996000	0.52242	0.994000	0.84299	-0.275000	0.08525	-0.107000	0.12088	0.467000	0.42956	CGT		0.498	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				54	72	0	0	0	1	0	54	72				
RIMBP2	23504	broad.mit.edu	37	12	130912849	130912849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130912849C>A	ENST00000261655.4	-	12	2399	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	746					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCTGCTCTCTGTGTGGTAC	0.602																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2236-2238)Gag>Tag		RIMS binding protein 2							76.0	66.0	69.0					12																	130912849		2203	4300	6503	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130912849C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2236G>T	12.37:g.130912849C>A	ENSP00000261655:p.Glu746*						p.E746*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2399	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	746					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.2236G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	42	9.362637	0.99148	.	.	ENSG00000060709	ENST00000261655	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-28.4465	17.8061	0.88601	0.0:1.0:0.0:0.0	.	.	.	.	X	746	.	ENSP00000261655:E746X	E	-	1	0	RIMBP2	129478802	1.000000	0.71417	0.990000	0.47175	0.900000	0.52787	7.791000	0.85805	2.198000	0.70561	0.561000	0.74099	GAG		0.602	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		13	29	1	0	9.31168e-06	1	1.06029e-05	13	29				
CASP1	834	broad.mit.edu	37	11	104900565	104900565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900565G>A	ENST00000533400.1	-	6	724	c.689C>T	c.(688-690)aCg>aTg	p.T230M	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.T209M|CASP1_ENST00000534497.1_Missense_Mutation_p.T137M|CASP1_ENST00000527979.1_Missense_Mutation_p.T193M|CASP1_ENST00000526568.1_Missense_Mutation_p.T137M|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Missense_Mutation_p.T137M|CASP1_ENST00000525825.1_Missense_Mutation_p.T209M|CASP1_ENST00000598974.1_Missense_Mutation_p.T230M|CASP1_ENST00000593315.1_Missense_Mutation_p.T209M|CASP1_ENST00000436863.3_Missense_Mutation_p.T230M|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.T191M|CASP1_ENST00000594519.1_Missense_Mutation_p.T137M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	230					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CACCAGGAACGTGCTGTCAGA	0.453																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(688-690)aCg>aTg		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						155.0	143.0	147.0					11																	104900565		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104900565G>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.689C>T	11.37:g.104900565G>A	ENSP00000433138:p.Thr230Met					CASP1_ENST00000531166.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.T230M|CASP1_ENST00000393136.4_Missense_Mutation_p.T209M|CASP1_ENST00000525825.1_Missense_Mutation_p.T209M|CASP1_ENST00000534497.1_Missense_Mutation_p.T137M|CASP1_ENST00000594519.1_Missense_Mutation_p.T137M|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.T191M|CASP1_ENST00000527979.1_Missense_Mutation_p.T193M|CASP1_ENST00000593315.1_Missense_Mutation_p.T209M|CASP1_ENST00000446369.1_Missense_Mutation_p.T137M|CASP1_ENST00000526568.1_Missense_Mutation_p.T137M|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.T230M	p.T230M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	724	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	230					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.689C>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280582	0.40294	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	4.86	4.86	0.63082	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.225617	0.45606	D	0.000347	T	0.51601	0.1684	M	0.87971	2.92	0.31711	N	0.639456	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.85130	0.995;0.881;0.978;0.991;0.997;0.992;0.997	T	0.61554	-0.7039	10	0.46703	T	0.11	.	15.8633	0.79043	0.0:0.0:1.0:0.0	.	191;137;230;209;230;193;137	B4DVD8;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	M	79;137;193;230;230;137;209;209;137;191	ENSP00000435536:T79M;ENSP00000434250:T137M;ENSP00000432340:T193M;ENSP00000433138:T230M;ENSP00000410076:T230M;ENSP00000403260:T137M;ENSP00000376844:T209M;ENSP00000434779:T209M;ENSP00000436875:T137M;ENSP00000434259:T191M	ENSP00000376844:T209M	T	-	2	0	CASP1	104405775	1.000000	0.71417	0.590000	0.28732	0.149000	0.21700	4.911000	0.63328	2.678000	0.91216	0.650000	0.86243	ACG		0.453	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		6	133	0	0	0	1	0	6	133				
OR1D5	8386	broad.mit.edu	37	17	2966434	2966434	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2966434G>A	ENST00000575751.1	-	1	467	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	156					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						TGAGGAGGAGGCCATAGAGAA	0.577																																						ENST00000575751.1																			0				kidney(1)|lung(10)	11						c.(466-468)ggC>ggT		olfactory receptor, family 1, subfamily D, member 5							33.0	38.0	36.0					17																	2966434		2128	4239	6367	SO:0001819	synonymous_variant	8386				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:2966434G>A	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.468C>T	17.37:g.2966434G>A							p.G156G	NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN			1	467	-			156					Q96RA6	Silent	SNP	ENST00000575751.1	37	c.468C>T	CCDS58499.1																																																																																				0.577	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		13	9	0	0	0	1	0	13	9				
XAB2	56949	broad.mit.edu	37	19	7685535	7685535	+	Silent	SNP	C	C	T	rs377734373		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7685535C>T	ENST00000358368.4	-	15	2029	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	XAB2_ENST00000534844.1_Silent_p.A661A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	664					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACATCTCACGCGCGTGCTCGT	0.667								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1990-1992)gcG>gcA	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2		C		0,4406		0,0,2203	33.0	35.0	34.0		1992	-6.2	0.8	19		34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XAB2	NM_020196.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/856	7685535	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7685535C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1992G>A	19.37:g.7685535C>T						XAB2_ENST00000534844.1_Silent_p.A661A	p.A664A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			15	2029	-			664					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.1992G>A	CCDS32892.1																																																																																				0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		9	21	0	0	0	1	0	9	21				
ARID1A	8289	broad.mit.edu	37	1	27106360	27106360	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106360C>A	ENST00000324856.7	+	20	6342	c.5971C>A	c.(5971-5973)Ctg>Atg	p.L1991M	ARID1A_ENST00000540690.1_Missense_Mutation_p.L319M|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1774M|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1608M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1991					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTCGAAGCCTGTCATTTGT	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5971-5973)Ctg>Atg		AT rich interactive domain 1A (SWI-like)							114.0	97.0	103.0					1																	27106360		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106360C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5971C>A	1.37:g.27106360C>A	ENSP00000320485:p.Leu1991Met					ARID1A_ENST00000457599.2_Missense_Mutation_p.L1774M|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1608M|ARID1A_ENST00000540690.1_Missense_Mutation_p.L319M	p.L1991M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6342	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1991					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5971C>A	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.010896|3.010896	0.54361|0.54361	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.68815|0.68815	0.3042|0.3042	M|M	0.83603|0.83603	2.65|2.65	0.46131|0.46131	D|D	0.998882|0.998882	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.71262|0.71262	-0.4645|-0.4645	10|5	0.87932|.	D|.	0|.	-8.6991|-8.6991	6.2473|6.2473	0.20825|0.20825	0.0:0.7833:0.0:0.2167|0.0:0.7833:0.0:0.2167	.|.	1608;1991;1774|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	M|H	1991;1774;1608;319|887	ENSP00000320485:L1991M;ENSP00000387636:L1774M;ENSP00000363267:L1608M;ENSP00000442437:L319M|.	ENSP00000320485:L1991M|.	L|P	+|+	1|2	2|0	ARID1A|ARID1A	26978947|26978947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.537000|3.537000	0.53590|0.53590	2.760000|2.760000	0.94817|0.94817	0.478000|0.478000	0.44815|0.44815	CTG|CCT		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		5	73	1	0	0.014758	1	0.0152625	5	73				
SPTLC2	9517	broad.mit.edu	37	14	78028820	78028820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78028820G>T	ENST00000216484.2	-	6	962	c.769C>A	c.(769-771)Ctg>Atg	p.L257M		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	257					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TCATCACTCAGAATCAGGCAA	0.433																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(769-771)Ctg>Atg		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						97.0	82.0	87.0					14																	78028820		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78028820G>T	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.769C>A	14.37:g.78028820G>T	ENSP00000216484:p.Leu257Met						p.L257M	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	6	962	-			257					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.769C>A	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.876760|2.876760	0.51801|0.51801	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	D|.	0.92699|.	-3.09|.	5.73|5.73	2.86|2.86	0.33363|0.33363	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80166|0.80166	0.4573|0.4573	H|H	0.94886|0.94886	3.595|3.595	0.58432|0.58432	D|D	0.99999|0.99999	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.81462|0.81462	-0.0922|-0.0922	10|5	0.66056|.	D|.	0.02|.	-12.241|-12.241	8.0412|8.0412	0.30523|0.30523	0.212:0.0:0.6656:0.1224|0.212:0.0:0.6656:0.1224	.|.	257|.	O15270|.	SPTC2_HUMAN|.	M|Y	257|193	ENSP00000216484:L257M|.	ENSP00000216484:L257M|.	L|S	-|-	1|2	2|0	SPTLC2|SPTLC2	77098573|77098573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.729000|0.729000	0.41735|0.41735	1.999000|1.999000	0.40806|0.40806	0.874000|0.874000	0.35823|0.35823	-0.321000|-0.321000	0.08615|0.08615	CTG|TCT		0.433	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		6	48	1	0	5.18039e-06	1	5.91835e-06	6	48				
DIAPH1	1729	broad.mit.edu	37	5	140967806	140967806	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140967806C>T	ENST00000398557.4	-	2	269	c.129G>A	c.(127-129)cgG>cgA	p.R43R	DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000253811.6_Silent_p.R43R|DIAPH1_ENST00000520569.1_5'Flank|DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000389054.3_Silent_p.R43R|DIAPH1_ENST00000398562.2_Intron	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	43					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCATGAGCCGCTTCAGAG	0.418																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(127-129)cgG>cgA		diaphanous-related formin 1							95.0	94.0	94.0					5																	140967806		1899	4121	6020	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140967806C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.129G>A	5.37:g.140967806C>T						DIAPH1_ENST00000389054.3_Silent_p.R43R|DIAPH1_ENST00000398566.3_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000398557.4_Silent_p.R43R|DIAPH1_ENST00000389057.5_Intron	p.R43R			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	269	-			43					A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.129G>A	CCDS43374.1																																																																																				0.418	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		3	21	0	0	0	1	0	3	21				
UBE2Q1	55585	broad.mit.edu	37	1	154524631	154524631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154524631C>T	ENST00000292211.4	-	8	983	c.904G>A	c.(904-906)Gat>Aat	p.D302N	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	302					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCTGGAGATCGTTGTGCAAA	0.493																																						ENST00000292211.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(904-906)Gat>Aat		ubiquitin-conjugating enzyme E2Q family member 1							90.0	97.0	94.0					1																	154524631		2203	4300	6503	SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154524631C>T	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.904G>A	1.37:g.154524631C>T	ENSP00000292211:p.Asp302Asn						p.D302N	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	983	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		302					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.904G>A	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523339	0.96431	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.02	5.02	0.67125	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86379	0.1728	9	0.87932	D	0	-12.392	17.0822	0.86602	0.0:1.0:0.0:0.0	.	302	Q7Z7E8	UB2Q1_HUMAN	N	302	.	ENSP00000292211:D302N	D	-	1	0	UBE2Q1	152791255	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.259000	0.78381	2.624000	0.88883	0.561000	0.74099	GAT		0.493	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		48	78	0	0	0	1	0	48	78				
DNAH17	8632	broad.mit.edu	37	17	76482147	76482147	+	Silent	SNP	C	C	T	rs375654866		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76482147C>T	ENST00000585328.1	-	46	7279	c.7155G>A	c.(7153-7155)tcG>tcA	p.S2385S	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Silent_p.S2376S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2376					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGTTCCCTGCGAGGGGAACT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20669	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7126-7128)tcG>tcA		dynein, axonemal, heavy chain 17		C		0,3862		0,0,1931	100.0	95.0	96.0		7170	-9.9	0.3	17		96	2,8282		0,2,4140	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6071	TT,TC,CC		0.0241,0.0,0.0165		2390/4463	76482147	2,12144	1931	4142	6073	SO:0001819	synonymous_variant	8632							g.chr17:76482147C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7155G>A	17.37:g.76482147C>T						RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.S2385S|DNAH17_ENST00000586052.1_5'UTR	p.S2376S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		46	7252	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.7128G>A																																																																																					0.463	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		26	31	0	0	0	1	0	26	31				
BNIP3L	665	broad.mit.edu	37	8	26237909	26237909	+	5'Flank	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26237909C>A	ENST00000380629.2	+	0	0				BNIP3L_ENST00000523515.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		ACAGAAGGTTCTTTGTTACTT	0.413																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:26237909C>A	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237909C>A	Exception_encountered													0	2039	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.413	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		16	38	1	0	4.96729e-08	1	5.9048e-08	16	38				
OSBPL1A	114876	broad.mit.edu	37	18	21745032	21745032	+	Missense_Mutation	SNP	G	G	A	rs373316133		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21745032G>A	ENST00000319481.3	-	27	2953	c.2747C>T	c.(2746-2748)aCg>aTg	p.T916M	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.T403M|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.T534M	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACGCACCTCGTCTTCCAGTC	0.532																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2746-2748)aCg>aTg		oxysterol binding protein-like 1A		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	240.0	218.0	226.0		1601,1208,2747	5.6	1.0	18		226	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	OSBPL1A	NM_001242508.1,NM_018030.4,NM_080597.3	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	534/569,403/438,916/951	21745032	1,13005	2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745032G>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2747C>T	18.37:g.21745032G>A	ENSP00000320291:p.Thr916Met					OSBPL1A_ENST00000399443.3_Missense_Mutation_p.T403M|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.T534M	p.T916M	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2953	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		916					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2747C>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884664	0.72410	0.0	1.16E-4	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.30981	1.51;1.51;1.51	5.62	5.62	0.85841	.	0.101689	0.64402	D	0.000002	T	0.59169	0.2174	M	0.90369	3.11	0.80722	D	1	D	0.64830	0.994	P	0.60886	0.88	T	0.67473	-0.5662	10	0.87932	D	0	.	13.8739	0.63638	0.0733:0.0:0.9267:0.0	.	916	Q9BXW6	OSBL1_HUMAN	M	916;403;534	ENSP00000320291:T916M;ENSP00000382372:T403M;ENSP00000349545:T534M	ENSP00000320291:T916M	T	-	2	0	OSBPL1A	19999030	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	5.249000	0.65427	2.631000	0.89168	0.491000	0.48974	ACG		0.532	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		84	97	0	0	0	1	0	84	97				
SSPO	23145	broad.mit.edu	37	7	149489043	149489043	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149489043G>A	ENST00000378016.2	+	0	5384							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTGCACAGCACCCGCCAG	0.657																																						ENST00000378016.2																			0													SCO-spondin							26.0	31.0	29.0					7																	149489043		2067	4189	6256			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489043G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489043G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5384	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				11	26	0	0	0	1	0	11	26				
PTPN14	5784	broad.mit.edu	37	1	214556744	214556744	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214556744C>A	ENST00000366956.5	-	13	2648	c.2454G>T	c.(2452-2454)gaG>gaT	p.E818D	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	818					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTTTGACCCGCTCCTTCACAC	0.552																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2452-2454)gaG>gaT		protein tyrosine phosphatase, non-receptor type 14							73.0	77.0	76.0					1																	214556744		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556744C>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2454G>T	1.37:g.214556744C>A	ENSP00000355923:p.Glu818Asp					PTPN14_ENST00000543945.1_3'UTR	p.E818D	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2648	-			818					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2454G>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	5.902	0.350505	0.11182	.	.	ENSG00000152104	ENST00000366956	T	0.68765	-0.35	4.96	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.65975	2.015	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.71111	-0.4687	10	0.15066	T	0.55	.	11.0275	0.47753	0.0:0.7679:0.0:0.2321	.	818	Q15678	PTN14_HUMAN	D	818	ENSP00000355923:E818D	ENSP00000355923:E818D	E	-	3	2	PTPN14	212623367	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	2.081000	0.41596	1.091000	0.41335	0.462000	0.41574	GAG		0.552	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		11	74	1	0	6.40141e-05	1	7.11719e-05	11	74				
XIST	7503	broad.mit.edu	37	X	73063002	73063002	+	lincRNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73063002G>T	ENST00000429829.1	-	0	9586					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGTCCCAGGAGAAGTTTTGAG	0.468																																						ENST00000429829.1																			0																				63.0	61.0	61.0					X																	73063002		876	1991	2867			0							g.chrX:73063002G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063002G>T								NR_001564.2						0	9586	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.468	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		16	35	1	0	2.31682e-05	1	2.60394e-05	16	35				
YLPM1	56252	broad.mit.edu	37	14	75265633	75265633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75265633T>C	ENST00000325680.7	+	5	3757	c.3633T>C	c.(3631-3633)gcT>gcC	p.A1211A	YLPM1_ENST00000238571.3_Silent_p.A1016A|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1016					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTAGAAATGCTCCAATGGAAC	0.448																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3631-3633)gcT>gcC		YLP motif containing 1							62.0	56.0	58.0					14																	75265633		1970	4146	6116	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265633T>C	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3633T>C	14.37:g.75265633T>C						YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.A1016A	p.A1211A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3757	+			1016					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.3633T>C	CCDS45135.1																																																																																				0.448	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		3	23	0	0	0	1	0	3	23				
ADPRHL1	113622	broad.mit.edu	37	13	114107713	114107713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114107713C>T	ENST00000375418.3	-	1	126	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	14					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGAGCATCGCCGACGCTCCCC	0.587																																						ENST00000375418.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(40-42)Ggc>Agc		ADP-ribosylhydrolase like 1							81.0	78.0	79.0					13																	114107713		2203	4300	6503	SO:0001583	missense	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114107713C>T	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.40G>A	13.37:g.114107713C>T	ENSP00000364567:p.Gly14Ser						p.G14S	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		1	126	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	14					Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	c.40G>A	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703416	0.68501	.	.	ENSG00000153531	ENST00000375418	T	0.73789	-0.78	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	M	0.89601	3.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91150	0.4952	10	0.87932	D	0	-32.6286	19.2744	0.94026	0.0:1.0:0.0:0.0	.	14	Q8NDY3	ARHL1_HUMAN	S	14	ENSP00000364567:G14S	ENSP00000364567:G14S	G	-	1	0	ADPRHL1	113155714	1.000000	0.71417	0.109000	0.21407	0.004000	0.04260	7.119000	0.77145	2.569000	0.86673	0.561000	0.74099	GGC		0.587	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		12	22	0	0	0	1	0	12	22				
ZNF285	26974	broad.mit.edu	37	19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891167C>T	ENST00000330997.4	-	4	1304	c.1240G>A	c.(1240-1242)Gtt>Att	p.V414I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.V421I|ZNF285_ENST00000544719.2_Missense_Mutation_p.V414I	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTGAAGAACGGAGCTTGAA	0.488																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1240-1242)Gtt>Att		zinc finger protein 285							50.0	49.0	49.0					19																	44891167		2203	4299	6502	SO:0001583	missense	26974							g.chr19:44891167C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1240G>A	19.37:g.44891167C>T	ENSP00000333595:p.Val414Ile					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.V421I|ZNF285_ENST00000544719.2_Missense_Mutation_p.V414I	p.V414I	NM_152354.3	NP_689567.3					4	1304	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1240G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357751	0.24598	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.15017	2.46	3.36	-4.36	0.03645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.13299	0.325	0.09310	N	1	B;B	0.20671	0.022;0.047	B;B	0.15484	0.005;0.013	T	0.39461	-0.9613	9	0.23302	T	0.38	.	6.0828	0.19950	0.0:0.4365:0.1864:0.3771	.	438;414	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	I	437;414	ENSP00000333595:V414I	ENSP00000333595:V414I	V	-	1	0	ZNF285	49583007	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-4.996000	0.00162	-0.544000	0.06232	0.298000	0.19748	GTT		0.488	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		21	26	0	0	0	1	0	21	26				
SRM	6723	broad.mit.edu	37	1	11119373	11119373	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11119373T>A	ENST00000376957.2	-	2	277	c.197A>T	c.(196-198)gAc>gTc	p.D66V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	66	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	GATGACACCGTCCAACACCAG	0.622																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(196-198)gAc>gTc		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						126.0	114.0	118.0					1																	11119373		2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11119373T>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.197A>T	1.37:g.11119373T>A	ENSP00000366156:p.Asp66Val						p.D66V	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	2	277	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	66					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.197A>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674109	0.88445	.	.	ENSG00000116649	ENST00000376957	D	0.82344	-1.6	4.3	4.3	0.51218	.	0.055983	0.64402	D	0.000002	D	0.94512	0.8233	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95565	0.8633	10	0.87932	D	0	.	11.4342	0.50058	0.0:0.0:0.0:1.0	.	66	P19623	SPEE_HUMAN	V	66	ENSP00000366156:D66V	ENSP00000366156:D66V	D	-	2	0	SRM	11041960	1.000000	0.71417	0.994000	0.49952	0.830000	0.47004	5.521000	0.67086	1.777000	0.52277	0.368000	0.22195	GAC		0.622	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		12	96	0	0	0	1	0	12	96				
MYH8	4626	broad.mit.edu	37	17	10318841	10318841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10318841G>A	ENST00000403437.2	-	7	690	c.596C>T	c.(595-597)gCa>gTa	p.A199V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	199	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAATTGTTGCAAAGTATTG	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(595-597)gCa>gTa		myosin, heavy chain 8, skeletal muscle, perinatal							140.0	132.0	135.0					17																	10318841		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318841G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.596C>T	17.37:g.10318841G>A	ENSP00000384330:p.Ala199Val					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.A199V	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			7	690	-			199			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.596C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607085	0.87157	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90133	-2.62	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000888	D	0.95175	0.8436	M	0.92507	3.315	0.80722	D	1	P	0.39044	0.656	P	0.49387	0.609	D	0.96537	0.9397	10	0.87932	D	0	.	17.2389	0.87007	0.0:0.0:1.0:0.0	.	199	P13535	MYH8_HUMAN	V	199	ENSP00000384330:A199V	ENSP00000252173:A199V	A	-	2	0	MYH8	10259566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.488000	0.97947	2.308000	0.77769	0.591000	0.81541	GCA		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		36	48	0	0	0	1	0	36	48				
RSRP1	57035	broad.mit.edu	37	1	25573046	25573046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573046G>A	ENST00000243189.7	-	2	685	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	C1orf63_ENST00000417642.2_Nonsense_Mutation_p.Q130*|C1orf63_ENST00000431849.2_Nonsense_Mutation_p.Q137*|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		137	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGTAGCGCTGTCCCCGCGCG	0.647																																						ENST00000243189.7																			0				breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(409-411)Cag>Tag		chromosome 1 open reading frame 63							92.0	83.0	86.0					1																	25573046		2203	4300	6503	SO:0001587	stop_gained	57035							g.chr1:25573046G>A																												ENST00000243189.7:c.409C>T	1.37:g.25573046G>A	ENSP00000243189:p.Gln137*					C1orf63_ENST00000431849.2_Nonsense_Mutation_p.Q137*|C1orf63_ENST00000417642.2_Nonsense_Mutation_p.Q130*	p.Q137*	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	685	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	137			Arg-rich.		A8K917|Q49AA4|Q5TH71|Q9GZP6	Nonsense_Mutation	SNP	ENST00000243189.7	37	c.409C>T	CCDS260.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440246	0.96168	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849	.	.	.	4.32	4.32	0.51571	.	0.212247	0.23801	N	0.044422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.1762	11.4414	0.50099	0.0:0.0:0.8205:0.1795	.	.	.	.	X	137;130;137	.	ENSP00000243189:Q137X	Q	-	1	0	C1orf63	25445633	0.615000	0.27026	0.010000	0.14722	0.218000	0.24690	2.536000	0.45693	2.394000	0.81467	0.561000	0.74099	CAG		0.647	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			11	59	0	0	0	1	0	11	59				
DPP6	1804	broad.mit.edu	37	7	154172024	154172024	+	Splice_Site	SNP	C	C	T	rs377188231		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154172024C>T	ENST00000377770.3	+	3	500	c.359C>T	c.(358-360)gCg>gTg	p.A120V	DPP6_ENST00000427557.1_Splice_Site_p.A58V|DPP6_ENST00000404039.1_Splice_Site_p.A56V|DPP6_ENST00000406326.1_Splice_Site_p.A120V|DPP6_ENST00000332007.3_Splice_Site_p.A58V|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	120					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTTTCTAGCGGAAGATAAT	0.343																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.e3-1		dipeptidyl-peptidase 6		C	VAL/ALA,VAL/ALA,VAL/ALA	0,3648		0,0,1824	56.0	54.0	54.0		167,173,359	4.3	1.0	7		54	1,8155		0,1,4077	no	missense-near-splice,missense-near-splice,missense-near-splice	DPP6	NM_001039350.1.dup,NM_001936.3.dup,NM_130797.2.dup	64,64,64	0,1,5901	TT,TC,CC		0.0123,0.0,0.0085	benign,benign,benign	56/153,58/155,120/217	154172024	1,11803	1824	4078	5902	SO:0001630	splice_region_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154172024C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.359-1C>T	7.37:g.154172024C>T						DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Splice_Site_p.A58_splice|DPP6_ENST00000406326.1_Splice_Site_p.A120_splice|DPP6_ENST00000332007.3_Splice_Site_p.A58_splice|DPP6_ENST00000377770.3_Splice_Site_p.A120_splice	p.A56_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		3	754	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	120						Splice_Site	SNP	ENST00000377770.3	37	c.166_splice		.	.	.	.	.	.	.	.	.	.	C	12.70	2.016453	0.35606	0.0	1.23E-4	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.14266	2.53;2.53;2.56;2.52	5.16	4.28	0.50868	.	0.424146	0.26776	N	0.022550	T	0.07954	0.0199	.	.	.	0.34827	D	0.739249	B;B;B;B;P;B	0.39601	0.002;0.004;0.001;0.009;0.68;0.005	B;B;B;B;B;B	0.28385	0.002;0.004;0.001;0.003;0.089;0.003	T	0.34950	-0.9808	8	.	.	.	.	9.734	0.40377	0.0:0.904:0.0:0.096	.	58;58;58;120;120;56	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	V	56;120;120;58;58	ENSP00000385578:A56V;ENSP00000367001:A120V;ENSP00000328226:A58V;ENSP00000397303:A58V	.	A	+	2	0	DPP6	153802957	0.997000	0.39634	1.000000	0.80357	0.726000	0.41606	0.463000	0.21972	1.280000	0.44463	0.650000	0.86243	GCG		0.343	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	Missense_Mutation	10	48	0	0	0	1	0	10	48				
SYTL1	84958	broad.mit.edu	37	1	27675609	27675609	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27675609T>C	ENST00000543823.1	+	5	960	c.498T>C	c.(496-498)gcT>gcC	p.A166A	SYTL1_ENST00000318074.5_Silent_p.A154A|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	166					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTAAAGGCTTCAGATCCTG	0.607																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(496-498)gcT>gcC		synaptotagmin-like 1							89.0	94.0	92.0					1																	27675609		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27675609T>C	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.498T>C	1.37:g.27675609T>C						SYTL1_ENST00000318074.5_Silent_p.A154A|SYTL1_ENST00000490170.1_3'UTR	p.A166A			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	960	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	166					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.498T>C	CCDS53286.1																																																																																				0.607	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		10	74	0	0	0	1	0	10	74				
MIR101-1	406893	broad.mit.edu	37	1	65524119	65524119	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65524119C>T	ENST00000362265.1	-	0	72				MIR3671_ENST00000580455.1_RNA	NR_029516.1				microRNA 101-1																		AAGATGGCTGCCATCCTTCAG	0.507																																						ENST00000362265.1																			0																				98.0	82.0	87.0					1																	65524119		1568	3582	5150			0							g.chr1:65524119C>T			1p31.3	2011-09-12		2008-12-18	ENSG00000199135	ENSG00000199135		"""ncRNAs / Micro RNAs"""	31488	non-coding RNA	RNA, micro		612511		MIRN101-1			Standard	NR_029516		Approved	hsa-mir-101-1	uc001dbx.3				1.37:g.65524119C>T								NR_029516.1						0	72	-									RNA	SNP	ENST00000362265.1	37																																																																																						0.507	MIR101-1-201	KNOWN	basic	miRNA	miRNA		NR_029516		22	49	0	0	0	1	0	22	49				
NUP214	8021	broad.mit.edu	37	9	134049645	134049645	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134049645G>T	ENST00000359428.5	+	22	3241	c.3097G>T	c.(3097-3099)Gca>Tca	p.A1033S	NUP214_ENST00000451030.1_Missense_Mutation_p.A1034S|NUP214_ENST00000411637.2_Missense_Mutation_p.A1023S			P35658	NU214_HUMAN	nucleoporin 214kDa	1033	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCCCATGCAGCACCTTTTGC	0.532			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(3097-3099)Gca>Tca		nucleoporin 214kDa							94.0	80.0	85.0					9																	134049645		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134049645G>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3097G>T	9.37:g.134049645G>T	ENSP00000352400:p.Ala1033Ser					NUP214_ENST00000451030.1_Missense_Mutation_p.A1034S|NUP214_ENST00000411637.2_Missense_Mutation_p.A1023S	p.A1033S			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	22	3241	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1033			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.3097G>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120171	0.37436	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.28666	1.6;1.61;1.6	5.81	-8.3	0.01005	.	1.901380	0.02762	N	0.118748	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B;B;B;B	0.13145	0.007;0.006;0.006;0.006	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.18555	-1.0333	10	0.09338	T	0.73	3.6523	3.9861	0.09516	0.2874:0.3078:0.3256:0.0792	.	1022;627;1023;1033	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	S	1033;1023;1034;1022;627;462	ENSP00000352400:A1033S;ENSP00000396576:A1023S;ENSP00000405014:A1034S	ENSP00000352400:A1033S	A	+	1	0	NUP214	133039466	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.582000	0.05814	-1.038000	0.03279	-0.302000	0.09304	GCA		0.532	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	74	1	0	0.0381472	1	0.0390147	8	74				
LRRK2	120892	broad.mit.edu	37	12	40697776	40697776	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40697776A>G	ENST00000298910.7	+	27	3675	c.3617A>G	c.(3616-3618)aAt>aGt	p.N1206S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1206S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1206					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAGCAGCAATGATATTCAG	0.353																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3616-3618)aAt>aGt		leucine-rich repeat kinase 2							84.0	86.0	85.0					12																	40697776		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697776A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3617A>G	12.37:g.40697776A>G	ENSP00000298910:p.Asn1206Ser					LRRK2_ENST00000343742.2_Missense_Mutation_p.N1206S	p.N1206S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			27	3675	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1206					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3617A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477056	0.84640	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.68025	-0.3;1.24	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	H	0.99838	4.83	0.53688	D	0.999972	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.997	D	0.94760	0.7935	10	0.87932	D	0	.	15.3276	0.74179	1.0:0.0:0.0:0.0	.	1206;1206;1206	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	S	1206	ENSP00000341930:N1206S;ENSP00000298910:N1206S	ENSP00000298910:N1206S	N	+	2	0	LRRK2	38984043	1.000000	0.71417	0.964000	0.40570	0.984000	0.73092	8.680000	0.91225	2.161000	0.67846	0.455000	0.32223	AAT		0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	78	0	0	0	1	0	4	78				
ARPC3	10094	broad.mit.edu	37	12	110874914	110874914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110874914G>T	ENST00000228825.7	-	4	373	c.227C>A	c.(226-228)tCt>tAt	p.S76Y	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	76					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			lung(1)|ovary(1)	2						CAGACATTCAGAAATGTAGAG	0.348																																						ENST00000228825.7																			0				lung(1)|ovary(1)	2						c.(226-228)tCt>tAt		actin related protein 2/3 complex, subunit 3, 21kDa							79.0	77.0	77.0					12																	110874914		2203	4298	6501	SO:0001583	missense	10094				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr12:110874914G>T	AF006086	CCDS9146.1	12q24	2011-07-06	2002-08-29		ENSG00000111229	ENSG00000111229		"""Actin related protein 2/3 complex subunits"""	706	protein-coding gene	gene with protein product		604225	"""actin related protein 2/3 complex, subunit 3 (21 kD)"""			9230079, 9359840	Standard	NM_001278556		Approved	p21-Arc, ARC21	uc001tqq.3	O15145	OTTHUMG00000134333	ENST00000228825.7:c.227C>A	12.37:g.110874914G>T	ENSP00000228825:p.Ser76Tyr					RP11-478C19.2_ENST00000550231.1_RNA	p.S76Y	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN			4	373	-			76					O00554	Missense_Mutation	SNP	ENST00000228825.7	37	c.227C>A	CCDS9146.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110340	0.77210	.	.	ENSG00000111229	ENST00000228825;ENST00000392683;ENST00000426440;ENST00000547365	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.62723	1.935	0.80722	D	1	P	0.36990	0.577	B	0.42495	0.389	T	0.70092	-0.4967	9	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	76	O15145	ARPC3_HUMAN	Y	76;76;76;68	.	ENSP00000228825:S76Y	S	-	2	0	ARPC3	109359297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.216000	0.95154	2.861000	0.98227	0.650000	0.86243	TCT		0.348	ARPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259487.2			16	28	1	0	2.94398e-08	1	3.51695e-08	16	28				
BOD1L1	259282	broad.mit.edu	37	4	13602437	13602437	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13602437T>G	ENST00000040738.5	-	10	6222	c.6087A>C	c.(6085-6087)aaA>aaC	p.K2029N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2029						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCTCATCTTCTTTTTCACTTG	0.448																																						ENST00000040738.5																			0											c.(6085-6087)aaA>aaC		biorientation of chromosomes in cell division 1-like 1							74.0	68.0	70.0					4																	13602437		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602437T>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6087A>C	4.37:g.13602437T>G	ENSP00000040738:p.Lys2029Asn						p.K2029N	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6222	-			2029					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6087A>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842421	0.51057	.	.	ENSG00000038219	ENST00000040738	T	0.08458	3.09	5.33	2.88	0.33553	.	0.209237	0.33496	N	0.004859	T	0.16854	0.0405	L	0.47716	1.5	0.26815	N	0.968905	D	0.69078	0.997	D	0.66196	0.942	T	0.03121	-1.1070	10	0.45353	T	0.12	-11.9243	8.1173	0.30950	0.0:0.1613:0.0:0.8387	.	2029	Q8NFC6	BOD1L_HUMAN	N	2029	ENSP00000040738:K2029N	ENSP00000040738:K2029N	K	-	3	2	BOD1L	13211535	0.358000	0.24947	0.961000	0.40146	0.939000	0.58152	-0.386000	0.07370	0.340000	0.23745	0.454000	0.30748	AAA		0.448	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		5	22	0	0	0	1	0	5	22				
ZMYM3	9203	broad.mit.edu	37	X	70460821	70460821	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70460821G>A	ENST00000353904.2	-	25	4245	c.4058C>T	c.(4057-4059)gCt>gTt	p.A1353V	ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1263V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1355V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1353V|ZMYM3_ENST00000373998.1_Missense_Mutation_p.A1341V|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1353					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGCGCACAGCCAGGATGCG	0.547																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4021-4023)gCt>gTt		zinc finger, MYM-type 3							105.0	81.0	89.0					X																	70460821		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70460821G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.4058C>T	X.37:g.70460821G>A	ENSP00000343909:p.Ala1353Val					ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1355V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1353V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1263V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1353V	p.A1341V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			25	4719	-	Renal(35;0.156)		1353					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.4022C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	2.012	-0.426891	0.04701	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43688	1.53;0.94;1.53;1.58;1.53	4.34	4.34	0.51931	.	0.100691	0.41938	D	0.000791	T	0.29491	0.0735	N	0.24115	0.695	0.26702	N	0.971147	B;B	0.09022	0.002;0.002	B;B	0.22152	0.023;0.038	T	0.15093	-1.0449	10	0.32370	T	0.25	-8.5788	11.8687	0.52509	0.0907:0.0:0.9093:0.0	.	1341;1353	Q14202-2;Q14202	.;ZMYM3_HUMAN	V	1353;1341;1353;1263;1355	ENSP00000322845:A1353V;ENSP00000363110:A1341V;ENSP00000343909:A1353V;ENSP00000363096:A1263V;ENSP00000363100:A1355V	ENSP00000322845:A1353V	A	-	2	0	ZMYM3	70377546	0.856000	0.29760	1.000000	0.80357	0.992000	0.81027	2.497000	0.45354	1.990000	0.58119	0.594000	0.82650	GCT		0.547	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	52	0	0	0	1	0	4	52				
IL1RAP	3556	broad.mit.edu	37	3	190345207	190345207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190345207G>A	ENST00000412504.2	+	7	1123	c.871G>A	c.(871-873)Gac>Aac	p.D291N	IL1RAP_ENST00000439062.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D291N|IL1RAP_ENST00000434491.1_Missense_Mutation_p.D150N|IL1RAP_ENST00000317757.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000422940.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.D291N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	291	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAAACCTGATGACATCACTAT	0.418																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(871-873)Gac>Aac		interleukin 1 receptor accessory protein							128.0	119.0	122.0					3																	190345207		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190345207G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.871G>A	3.37:g.190345207G>A	ENSP00000412053:p.Asp291Asn					IL1RAP_ENST00000439062.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000422940.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D291N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000317757.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000434491.1_Missense_Mutation_p.D150N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D291N	p.D291N			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	7	1123	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		291			Ig-like C2-type 3.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.871G>A	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.69|16.69	3.193007|3.193007	0.58017|0.58017	.|.	.|.	ENSG00000196083|ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757|ENST00000412080	T;T;T;T;T;T;T;T;T|.	0.13420|.	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.317766|.	0.36778|.	N|.	0.002418|.	T|T	0.72342|0.72342	0.3448|0.3448	L|L	0.59436|0.59436	1.845|1.845	0.47621|0.47621	D|D	0.999472|0.999472	P;P;B;B|.	0.52692|.	0.955;0.596;0.072;0.056|.	P;B;B;B|.	0.50791|.	0.65;0.16;0.008;0.007|.	T|T	0.68164|0.68164	-0.5481|-0.5481	10|5	0.87932|.	D|.	0|.	.|.	17.9326|17.9326	0.89002|0.89002	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	150;291;291;291|.	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2|.	.;.;IL1AP_HUMAN;.|.	N|I	291;291;291;291;291;291;150;291;291|127	ENSP00000072516:D291N;ENSP00000408893:D291N;ENSP00000412053:D291N;ENSP00000401132:D291N;ENSP00000390541:D291N;ENSP00000409352:D291N;ENSP00000391899:D150N;ENSP00000387371:D291N;ENSP00000314807:D291N|.	ENSP00000072516:D291N|.	D|M	+|+	1|3	0|0	IL1RAP|IL1RAP	191827901|191827901	0.999000|0.999000	0.42202|0.42202	0.729000|0.729000	0.30791|0.30791	0.355000|0.355000	0.29361|0.29361	5.612000|5.612000	0.67681|0.67681	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.418	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			4	65	0	0	0	1	0	4	65				
ANK2	287	broad.mit.edu	37	4	114290890	114290890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114290890G>A	ENST00000357077.4	+	43	11592	c.11539G>A	c.(11539-11541)Gta>Ata	p.V3847I	ANK2_ENST00000510275.2_Missense_Mutation_p.V414I|ANK2_ENST00000506722.1_Missense_Mutation_p.V1753I|ANK2_ENST00000394537.3_Missense_Mutation_p.V1762I|ANK2_ENST00000264366.6_Missense_Mutation_p.V3814I|ANK2_ENST00000509550.1_Missense_Mutation_p.V938I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3847					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACCAGCCTCGTAATAGTGGA	0.542																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(11539-11541)Gta>Ata		ankyrin 2, neuronal							85.0	76.0	79.0					4																	114290890		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114290890G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11539G>A	4.37:g.114290890G>A	ENSP00000349588:p.Val3847Ile					ANK2_ENST00000510275.2_Missense_Mutation_p.V414I|ANK2_ENST00000264366.6_Missense_Mutation_p.V3814I|ANK2_ENST00000509550.1_Missense_Mutation_p.V938I|ANK2_ENST00000394537.3_Missense_Mutation_p.V1762I|ANK2_ENST00000506722.1_Missense_Mutation_p.V1753I	p.V3847I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	43	11592	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3814					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.11539G>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.08|13.08	2.130405|2.130405	0.37630|0.37630	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.96491	.|-0.34;-0.32;-0.4;-0.41;-1.09;-2.13;-4.03	5.55|5.55	3.82|3.82	0.43975|0.43975	.|.	.|0.135350	.|0.32819	.|N	.|0.005612	D|D	0.96941|0.96941	0.9001|0.9001	M|M	0.70595|0.70595	2.14|2.14	0.31566|0.31566	N|N	0.656916|0.656916	.|P;P;P;B;D;P	.|0.89917	.|0.659;0.487;0.846;0.001;1.0;0.852	.|B;B;B;B;D;B	.|0.83275	.|0.083;0.07;0.095;0.0;0.996;0.358	D|D	0.94406|0.94406	0.7627|0.7627	5|10	.|0.33141	.|T	.|0.24	.|.	6.5581|6.5581	0.22471|0.22471	0.069:0.1303:0.6655:0.1353|0.069:0.1303:0.6655:0.1353	.|.	.|938;797;763;1762;3847;1753	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	H|I	763|1753;797;1762;3847;3814;1753;938;414;857	.|ENSP00000421067:V1753I;ENSP00000378044:V1762I;ENSP00000349588:V3847I;ENSP00000264366:V3814I;ENSP00000426944:V938I;ENSP00000421023:V414I;ENSP00000422498:V857I	.|ENSP00000264366:V3814I	R|V	+|+	2|1	0|0	ANK2|ANK2	114510339|114510339	0.562000|0.562000	0.26586|0.26586	0.543000|0.543000	0.28128|0.28128	0.561000|0.561000	0.35649|0.35649	0.754000|0.754000	0.26390|0.26390	0.821000|0.821000	0.34540|0.34540	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.542	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		17	31	0	0	0	1	0	17	31				
UTP6	55813	broad.mit.edu	37	17	30202297	30202297	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30202297T>C	ENST00000261708.4	-	14	1398	c.1261A>G	c.(1261-1263)Ata>Gta	p.I421V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCATGGCTATGTCAGGGCTC	0.463																																						ENST00000261708.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21						c.(1261-1263)Ata>Gta		UTP6, small subunit (SSU) processome component, homolog (yeast)							99.0	96.0	97.0					17																	30202297		2203	4300	6503	SO:0001583	missense	55813				rRNA processing	nucleolus	binding	g.chr17:30202297T>C	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1261A>G	17.37:g.30202297T>C	ENSP00000261708:p.Ile421Val					CTC-542B22.2_ENST00000583236.1_lincRNA	p.I421V	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN			14	1398	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	421					Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	c.1261A>G	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.178662	0.00308	.	.	ENSG00000108651	ENST00000261708	T	0.33216	1.42	5.42	-9.67	0.00531	Tetratricopeptide-like helical (1);	0.995760	0.08157	N	0.989150	T	0.13072	0.0317	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38866	-0.9641	10	0.20519	T	0.43	0.2265	16.2632	0.82562	0.0919:0.7102:0.0:0.1979	.	421;421	B3KQ21;Q9NYH9	.;UTP6_HUMAN	V	421	ENSP00000261708:I421V	ENSP00000261708:I421V	I	-	1	0	UTP6	27226410	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.770000	0.01791	-1.977000	0.00994	-1.849000	0.00571	ATA		0.463	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		31	70	0	0	0	1	0	31	70				
PABPN1	8106	broad.mit.edu	37	14	23793493	23793493	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23793493C>A	ENST00000216727.4	+	6	1057	c.876C>A	c.(874-876)gtC>gtA	p.V292V	BCL2L2-PABPN1_ENST00000557008.1_Silent_p.V319V|PABPN1_ENST00000556821.1_Silent_p.V164V|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.V319V|PABPN1_ENST00000557702.1_Silent_p.V164V|PABPN1_ENST00000397276.2_Silent_p.V292V	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	292	Interacts with PAPOLA. {ECO:0000250}.|Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGGTCGCGTCTACAGGTCAG	0.637																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(874-876)gtC>gtA		poly(A) binding protein, nuclear 1							74.0	76.0	75.0					14																	23793493		2203	4300	6503	SO:0001819	synonymous_variant	8106							g.chr14:23793493C>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.876C>A	14.37:g.23793493C>A						BCL2L2-PABPN1_ENST00000553781.1_Silent_p.V319V|PABPN1_ENST00000557702.1_Silent_p.V164V|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.V319V|PABPN1_ENST00000216727.4_Silent_p.V292V|PABPN1_ENST00000556821.1_Silent_p.V164V	p.V292V						GBM - Glioblastoma multiforme(265;0.00643)	6	889	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Silent	SNP	ENST00000216727.4	37	c.876C>A	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	C	5.580	0.291821	0.10567	.	.	ENSG00000100836	ENST00000555295	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.58352	0.2116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56890	-0.7904	4	.	.	.	-22.2792	7.9971	0.30275	0.0:0.7532:0.1626:0.0842	.	.	.	.	I	92	.	.	L	+	1	2	PABPN1	22863333	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.977000	0.40589	2.581000	0.87130	0.655000	0.94253	CTA		0.637	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		15	55	1	0	5.01169e-05	1	5.58345e-05	15	55				
DDX42	11325	broad.mit.edu	37	17	61895444	61895444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895444G>A	ENST00000578681.1	+	19	3104	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	DDX42_ENST00000583590.1_Missense_Mutation_p.G835R|DDX42_ENST00000359353.5_Missense_Mutation_p.G716R|DDX42_ENST00000457800.2_Missense_Mutation_p.G835R|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.G835R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	835	Gly-rich.|His-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCACGTCACGGAGATGGTGG	0.582																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(2503-2505)Gga>Aga		DEAD (Asp-Glu-Ala-Asp) box helicase 42							61.0	58.0	59.0					17																	61895444		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61895444G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2503G>A	17.37:g.61895444G>A	ENSP00000464050:p.Gly835Arg					DDX42_ENST00000583590.1_Missense_Mutation_p.G835R|DDX42_ENST00000457800.2_Missense_Mutation_p.G835R|DDX42_ENST00000359353.5_Missense_Mutation_p.G716R|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.G835R	p.G835R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			19	3104	+			835			Gly-rich.|His-rich.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2503G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627403	0.46944	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.20332	2.08;2.08	5.19	5.19	0.71726	.	1.351130	0.04592	N	0.396950	T	0.37237	0.0996	L	0.56769	1.78	0.53005	D	0.999961	D;D	0.69078	0.997;0.982	P;B	0.51895	0.683;0.374	T	0.03403	-1.1040	10	0.40728	T	0.16	-14.3339	12.9114	0.58182	0.0:0.0:0.838:0.162	.	381;835	B3KV84;Q86XP3	.;DDX42_HUMAN	R	835;835;552	ENSP00000374574:G835R;ENSP00000390121:G835R	ENSP00000352308:G552R	G	+	1	0	DDX42	59249176	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	6.926000	0.75835	2.691000	0.91804	0.563000	0.77884	GGA		0.582	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		21	28	0	0	0	1	0	21	28				
GCC2	9648	broad.mit.edu	37	2	109103047	109103047	+	Silent	SNP	G	G	A	rs149849446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109103047G>A	ENST00000309863.6	+	16	4587	c.3873G>A	c.(3871-3873)acG>acA	p.T1291T		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACCAGCGTACGCTAAGTGCAT	0.502																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3871-3873)acG>acA		GRIP and coiled-coil domain containing 2							100.0	92.0	94.0					2																	109103047		2203	4300	6503	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103047G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3873G>A	2.37:g.109103047G>A							p.T1291T	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			16	4587	+			1291					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.3873G>A	CCDS33268.1																																																																																				0.502	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		26	37	0	0	0	1	0	26	37				
SFPQ	6421	broad.mit.edu	37	1	35650064	35650064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35650064C>T	ENST00000357214.5	-	10	2215	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	706					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCTAAAATCGGGGTTTTTT	0.413			T	TFE3	papillary renal cell																																	ENST00000357214.5				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2116-2118)cGa>cAa		splicing factor proline/glutamine-rich							144.0	152.0	149.0					1																	35650064		2203	4300	6503	SO:0001583	missense	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35650064C>T	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.2117G>A	1.37:g.35650064C>T	ENSP00000349748:p.Arg706Gln						p.R706Q	NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN			10	2215	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	706					P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	c.2117G>A	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937060	0.52972	.	.	ENSG00000116560	ENST00000357214	T	0.50277	0.75	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.53561	1.675	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.64309	-0.6438	10	0.56958	D	0.05	-7.3184	20.6244	0.99512	0.0:1.0:0.0:0.0	.	706	P23246	SFPQ_HUMAN	Q	706	ENSP00000349748:R706Q	ENSP00000349748:R706Q	R	-	2	0	SFPQ	35422651	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.686000	0.74548	2.879000	0.98667	0.650000	0.86243	CGA		0.413	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		20	47	0	0	0	1	0	20	47				
DDX23	9416	broad.mit.edu	37	12	49239515	49239515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49239515C>A	ENST00000308025.3	-	2	130	c.51G>T	c.(49-51)aaG>aaT	p.K17N	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	17					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCTTTCCTCCTTGGAAGGTG	0.507																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(49-51)aaG>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							66.0	55.0	59.0					12																	49239515		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49239515C>A	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.51G>T	12.37:g.49239515C>A	ENSP00000310723:p.Lys17Asn					DDX23_ENST00000553182.1_5'UTR	p.K17N	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			2	130	-			17					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.51G>T	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184007	0.57800	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.22336	1.96	6.04	2.15	0.27550	.	0.145914	0.46442	D	0.000300	T	0.16214	0.0390	L	0.27053	0.805	0.43010	D	0.99454	P	0.51791	0.948	P	0.46362	0.514	T	0.02661	-1.1127	10	0.72032	D	0.01	-19.7261	7.2188	0.25975	0.0:0.6688:0.1237:0.2075	.	17	Q9BUQ8	DDX23_HUMAN	N	17	ENSP00000310723:K17N	ENSP00000310723:K17N	K	-	3	2	DDX23	47525782	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	1.665000	0.37449	0.133000	0.18654	0.561000	0.74099	AAG		0.507	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		24	28	1	0	6.32553e-13	1	7.99037e-13	24	28				
ARHGAP9	64333	broad.mit.edu	37	12	57867954	57867954	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867954G>A	ENST00000356411.2	-	16	1984	c.1846C>T	c.(1846-1848)Cgg>Tgg	p.R616W	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R413W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R676W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R597W|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R687W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R597W|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	616	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAATCTAACCGACCTTCTGGA	0.517																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2059-2061)Cgg>Tgg		Rho GTPase activating protein 9							43.0	47.0	46.0					12																	57867954		2203	4299	6502	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867954G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1846C>T	12.37:g.57867954G>A	ENSP00000348782:p.Arg616Trp					ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R597W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R676W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R616W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R597W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R413W	p.R687W			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		19	2251	-			616			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2059C>T		.	.	.	.	.	.	.	.	.	.	G	14.91	2.677106	0.47886	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.26518	3.08;3.07;1.73;3.06;2.98;2.14	4.97	1.99	0.26369	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.482176	0.19518	N	0.112346	T	0.36468	0.0968	L	0.49126	1.545	0.35128	D	0.767715	D;D;D;D;B	0.76494	0.999;0.999;0.995;0.995;0.185	P;P;P;P;B	0.62382	0.877;0.88;0.648;0.901;0.067	T	0.45745	-0.9240	10	0.87932	D	0	.	7.2238	0.26003	0.0843:0.0:0.3377:0.578	.	676;616;597;597;413	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	W	597;616;597;687;646;413;86	ENSP00000377380:R597W;ENSP00000348782:R616W;ENSP00000394307:R597W;ENSP00000377386:R687W;ENSP00000397950:R413W;ENSP00000448423:R86W	ENSP00000344852:R646W	R	-	1	2	ARHGAP9	56154221	0.010000	0.17322	0.393000	0.26258	0.981000	0.71138	1.301000	0.33447	0.324000	0.23333	0.655000	0.94253	CGG		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		11	23	0	0	0	1	0	11	23				
UBE2O	63893	broad.mit.edu	37	17	74392626	74392626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74392626G>A	ENST00000319380.7	-	14	2456	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	798					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTCTCCATCAGCCCGGCCATG	0.632																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2392-2394)Ctg>Ttg		ubiquitin-conjugating enzyme E2O							83.0	96.0	92.0					17																	74392626		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392626G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2392C>T	17.37:g.74392626G>A							p.L798L	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2456	-			798					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.2392C>T	CCDS32742.1																																																																																				0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		69	95	0	0	0	1	0	69	95				
PTK2B	2185	broad.mit.edu	37	8	27287914	27287914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27287914G>A	ENST00000397501.1	+	12	1456	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PTK2B_ENST00000420218.2_Silent_p.K216K|PTK2B_ENST00000517339.1_Silent_p.K216K|PTK2B_ENST00000338238.4_Silent_p.K216K|PTK2B_ENST00000346049.5_Silent_p.K216K|PTK2B_ENST00000397497.4_5'Flank|PTK2B_ENST00000544172.1_Silent_p.K216K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	216	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TTTTCCCAAAGCAGATGCAGG	0.547																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(646-648)aaG>aaA		protein tyrosine kinase 2 beta							87.0	86.0	86.0					8																	27287914		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27287914G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.648G>A	8.37:g.27287914G>A						PTK2B_ENST00000517339.1_Silent_p.K216K|PTK2B_ENST00000420218.2_Silent_p.K216K|PTK2B_ENST00000544172.1_Silent_p.K216K|PTK2B_ENST00000338238.4_Silent_p.K216K|PTK2B_ENST00000346049.5_Silent_p.K216K	p.K216K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	12	1456	+		Ovarian(32;2.72e-05)	216			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.648G>A	CCDS6057.1																																																																																				0.547	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		25	58	0	0	0	1	0	25	58				
AQP3	360	broad.mit.edu	37	9	33442479	33442479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442479G>T	ENST00000297991.4	-	5	610	c.530C>A	c.(529-531)gCc>gAc	p.A177D	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	177					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GTCAACAATGGCCAGCACACA	0.612																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(529-531)gCc>gAc		aquaporin 3 (Gill blood group)							47.0	53.0	51.0					9																	33442479		2202	4300	6502	SO:0001583	missense	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33442479G>T		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.530C>A	9.37:g.33442479G>T	ENSP00000297991:p.Ala177Asp					AQP3_ENST00000493581.1_5'UTR	p.A177D	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	5	610	-			177					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	ENST00000297991.4	37	c.530C>A	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401014	0.96030	.	.	ENSG00000165272	ENST00000297991	D	0.89050	-2.46	5.95	5.95	0.96441	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.96722	0.8930	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97198	0.9862	10	0.87932	D	0	-0.0206	20.3747	0.98911	0.0:0.0:1.0:0.0	.	177	Q92482	AQP3_HUMAN	D	177	ENSP00000297991:A177D	ENSP00000297991:A177D	A	-	2	0	AQP3	33432479	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GCC		0.612	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		5	11	1	0	2.0095e-06	1	2.31757e-06	5	11				
POLE	5426	broad.mit.edu	37	12	133201533	133201533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201533G>A	ENST00000320574.5	-	48	6748	c.6705C>T	c.(6703-6705)taC>taT	p.Y2235Y	POLE_ENST00000535270.1_Silent_p.Y2208Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2235					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CGCAGCTGCAGTACACAGGCA	0.672								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6703-6705)taC>taT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							85.0	85.0	85.0					12																	133201533		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201533G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6705C>T	12.37:g.133201533G>A						POLE_ENST00000535270.1_Silent_p.Y2208Y	p.Y2235Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	48	6748	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2235					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.6705C>T	CCDS9278.1																																																																																				0.672	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		18	22	0	0	0	1	0	18	22				
COPB2	9276	broad.mit.edu	37	3	139085532	139085532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139085532G>T	ENST00000333188.5	-	15	1943	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	COPB2_ENST00000507777.1_Missense_Mutation_p.L559M	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	588					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACTGAAACCAGCAGGGAATAG	0.443																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1762-1764)Ctg>Atg		coatomer protein complex, subunit beta 2 (beta prime)							92.0	98.0	96.0					3																	139085532		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085532G>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1762C>A	3.37:g.139085532G>T	ENSP00000329419:p.Leu588Met					COPB2_ENST00000507777.1_Missense_Mutation_p.L559M	p.L588M	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			15	1943	-			588					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1762C>A	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406270	0.62288	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.63417	-0.04;0.07	5.83	0.324	0.15898	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.83852	2.665	0.58432	D	0.999995	B	0.33299	0.407	B	0.43018	0.405	T	0.67166	-0.5739	10	0.46703	T	0.11	-12.4626	10.9736	0.47452	0.3962:0.0:0.6038:0.0	.	588	P35606	COPB2_HUMAN	M	588;559	ENSP00000329419:L588M;ENSP00000422295:L559M	ENSP00000329419:L588M	L	-	1	2	COPB2	140568222	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.223000	0.42936	0.112000	0.17975	-0.142000	0.14014	CTG		0.443	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		5	73	1	0	0.184627	1	0.186383	5	73				
C6orf118	168090	broad.mit.edu	37	6	165706881	165706881	+	Intron	SNP	G	G	T	rs191062484	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165706881G>T	ENST00000230301.8	-	6	1141				C6orf118_ENST00000494696.2_5'Flank|C6orf118_ENST00000543069.1_Missense_Mutation_p.L277I	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118											breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCATAAGGAAGGACATCACAC	0.483																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(829-831)Ctt>Att		chromosome 6 open reading frame 118							274.0	224.0	241.0					6																	165706881		2203	4300	6503	SO:0001627	intron_variant	168090							g.chr6:165706881G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1120+20C>A	6.37:g.165706881G>T						C6orf118_ENST00000230301.8_Intron	p.L277I			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	6	1410	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	0					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.829C>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	4.887	0.164814	0.09287	.	.	ENSG00000112539	ENST00000543069	T	0.16897	2.31	2.66	-5.32	0.02722	.	.	.	.	.	T	0.01353	0.0044	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42050	-0.9474	6	0.14656	T	0.56	.	0.9563	0.01386	0.1811:0.253:0.3388:0.2272	.	.	.	.	I	277	ENSP00000439288:L277I	ENSP00000439288:L277I	L	-	1	0	C6orf118	165626871	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.719000	0.04974	-2.353000	0.00615	0.462000	0.41574	CTT		0.483	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		7	120	1	0	2.0095e-06	1	2.31757e-06	7	120				
MUC4	4585	broad.mit.edu	37	3	195515494	195515494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515494G>A	ENST00000463781.3	-	2	3416	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S986F|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	991	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACCTGTGGATGCCGAGGA	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2956-2958)tCc>tTc		mucin 4, cell surface associated							73.0	66.0	68.0					3																	195515494		2200	4280	6480	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515494G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2957C>T	3.37:g.195515494G>A	ENSP00000417498:p.Ser986Phe					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S986F|MUC4_ENST00000346145.4_Intron	p.S986F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3416	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	991			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2957C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	6.585	0.476302	0.12521	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.56275	0.47;0.5	0.765	0.765	0.18470	.	34.647600	0.00659	U	0.000599	T	0.45994	0.1370	N	0.19112	0.55	0.09310	N	1	P	0.50156	0.932	P	0.49361	0.608	T	0.41251	-0.9519	10	0.45353	T	0.12	.	4.9757	0.14138	0.0:0.0:1.0:0.0	.	986	E7ESK3	.	F	986;986;960	ENSP00000417498:S986F;ENSP00000420243:S986F	ENSP00000376209:S960F	S	-	2	0	MUC4	196999889	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	0.710000	0.25748	0.737000	0.32582	0.372000	0.22366	TCC		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	9	0	0	0	1	0	7	9				
PALB2	79728	broad.mit.edu	37	16	23646617	23646617	+	Missense_Mutation	SNP	G	G	A	rs45510998		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646617G>A	ENST00000261584.4	-	4	1402	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	417	ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome association.|DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGGCAATTGGACATGCTTCG	0.398			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1249-1251)tCc>tTc	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							75.0	78.0	77.0					16																	23646617		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646617G>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1250C>T	16.37:g.23646617G>A	ENSP00000261584:p.Ser417Phe						p.S417F	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1402	-			417					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1250C>T	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075138	0.76415	.	.	ENSG00000083093	ENST00000261584	T	0.33438	1.41	5.67	5.67	0.87782	.	0.000000	0.52532	D	0.000075	T	0.56978	0.2022	M	0.72118	2.19	0.41753	D	0.989674	D	0.89917	1.0	D	0.91635	0.999	T	0.58301	-0.7660	10	0.87932	D	0	-6.7143	17.6312	0.88108	0.0:0.0:1.0:0.0	.	417	Q86YC2	PALB2_HUMAN	F	417	ENSP00000261584:S417F	ENSP00000261584:S417F	S	-	2	0	PALB2	23554118	1.000000	0.71417	0.969000	0.41365	0.737000	0.42083	6.967000	0.76079	2.836000	0.97738	0.655000	0.94253	TCC		0.398	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		54	51	0	0	0	1	0	54	51				
FUT6	2528	broad.mit.edu	37	19	5832296	5832296	+	Missense_Mutation	SNP	C	C	T	rs199597075		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832296C>T	ENST00000318336.4	-	3	1477	c.283G>A	c.(283-285)Gac>Aac	p.D95N	FUT6_ENST00000286955.5_Missense_Mutation_p.D95N|FUT6_ENST00000592563.1_Missense_Mutation_p.D95N|FUT6_ENST00000524754.1_Missense_Mutation_p.D95N|FUT6_ENST00000527106.1_Missense_Mutation_p.D95N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	95					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTTGCGGTCGGCAGTGATG	0.632																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(283-285)Gac>Aac		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							74.0	67.0	70.0					19																	5832296		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832296C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.283G>A	19.37:g.5832296C>T	ENSP00000313398:p.Asp95Asn					FUT6_ENST00000527106.1_Missense_Mutation_p.D95N|FUT6_ENST00000592563.1_Missense_Mutation_p.D95N|FUT6_ENST00000524754.1_Missense_Mutation_p.D95N|FUT6_ENST00000286955.5_Missense_Mutation_p.D95N	p.D95N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1477	-			95					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.283G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558502	0.03967	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	3.09	2.04	0.26737	.	0.275068	0.30269	N	0.010015	T	0.10551	0.0258	N	0.10837	0.055	0.22531	N	0.999019	B;B	0.18166	0.026;0.005	B;B	0.17979	0.02;0.012	T	0.29488	-1.0010	10	0.18276	T	0.48	.	5.0884	0.14694	0.0:0.2882:0.0:0.7118	.	95;95	C9J8A2;P51993	.;FUT6_HUMAN	N	95	ENSP00000431708:D95N;ENSP00000432954:D95N;ENSP00000313398:D95N;ENSP00000286955:D95N;ENSP00000436547:D95N	ENSP00000286955:D95N	D	-	1	0	FUT6	5783296	0.007000	0.16637	0.198000	0.23420	0.009000	0.06853	0.049000	0.14099	0.364000	0.24374	-0.436000	0.05848	GAC		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		27	41	0	0	0	1	0	27	41				
MYCBP2	23077	broad.mit.edu	37	13	77631174	77631174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77631174G>A	ENST00000544440.2	-	79	13287	c.13270C>T	c.(13270-13272)Cga>Tga	p.R4424*	MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R4424*|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.R4462*					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGCCATCGATTTTCTAAT	0.333																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(13384-13386)Cga>Tga		MYC binding protein 2, E3 ubiquitin protein ligase							132.0	125.0	128.0					13																	77631174		2203	4300	6503	SO:0001587	stop_gained	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77631174G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13270C>T	13.37:g.77631174G>A	ENSP00000444596:p.Arg4424*					MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R4424*|MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.R4424*	p.R4462*	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	79	13650	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4424						Nonsense_Mutation	SNP	ENST00000544440.2	37	c.13384C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	54|54	23.192620|23.192620	0.99953|0.99953	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	.|.	.|.	.|.	5.56|5.56	4.39|4.39	0.52855|0.52855	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.62060	.|0.2397	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68557	.|-0.5377	.|3	0.02654|.	T|.	1|.	.|.	12.6694|12.6694	0.56858|0.56858	0.0:0.0:0.1443:0.8557|0.0:0.0:0.1443:0.8557	.|.	.|.	.|.	.|.	X|L	4424;4462;4424|844	.|.	ENSP00000349892:R4424X|.	R|S	-|-	1|2	2|0	MYCBP2|MYCBP2	76529175|76529175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.916000|4.916000	0.63362|0.63362	0.949000|0.949000	0.37715|0.37715	-0.467000|-0.467000	0.05162|0.05162	CGA|TCG		0.333	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		46	62	0	0	0	1	0	46	62				
SIPA1L2	57568	broad.mit.edu	37	1	232551265	232551265	+	Silent	SNP	G	G	A	rs202017607		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232551265G>A	ENST00000366630.1	-	18	5095	c.4737C>T	c.(4735-4737)ctC>ctT	p.L1579L	SIPA1L2_ENST00000262861.4_Silent_p.L1579L|SIPA1L2_ENST00000308942.4_Silent_p.L653L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1579					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.L1579L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCATCCACGAGGTGGGTCC	0.582																																						ENST00000366630.1																			2	Substitution - coding silent(2)	p.L1579L(2)	large_intestine(1)|lung(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(4735-4737)ctC>ctT		signal-induced proliferation-associated 1 like 2							93.0	106.0	102.0					1																	232551265		1960	4165	6125	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232551265G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4737C>T	1.37:g.232551265G>A						SIPA1L2_ENST00000262861.4_Silent_p.L1579L|SIPA1L2_ENST00000308942.4_Silent_p.L653L	p.L1579L			Q9P2F8	SI1L2_HUMAN			18	5095	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1579					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.4737C>T	CCDS41474.1																																																																																				0.582	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		8	55	0	0	0	1	0	8	55				
SLC39A10	57181	broad.mit.edu	37	2	196544795	196544795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196544795G>A	ENST00000409086.3	+	2	304	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.C10Y	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	10					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACAAAATTTTGCCTCATTTGT	0.368																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(28-30)tGc>tAc		solute carrier family 39 (zinc transporter), member 10							61.0	69.0	66.0					2																	196544795		2202	4300	6502	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196544795G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.29G>A	2.37:g.196544795G>A	ENSP00000386766:p.Cys10Tyr					SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.C10Y	p.C10Y	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	304	+			10					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.29G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736071	0.69189	.	.	ENSG00000196950	ENST00000458054;ENST00000409086;ENST00000359634;ENST00000412905;ENST00000418005	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.55198	-0.8178	10	0.72032	D	0.01	.	17.8324	0.88686	0.0:0.0:1.0:0.0	.	10	Q9ULF5	S39AA_HUMAN	Y	10	ENSP00000389640:C10Y;ENSP00000386766:C10Y;ENSP00000352655:C10Y;ENSP00000406590:C10Y;ENSP00000409272:C10Y	ENSP00000352655:C10Y	C	+	2	0	SLC39A10	196253040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.777000	0.91781	2.409000	0.81822	0.650000	0.86243	TGC		0.368	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		4	53	0	0	0	1	0	4	53				
PASK	23178	broad.mit.edu	37	2	242062244	242062244	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242062244T>G	ENST00000405260.1	-	12	3673	c.2975A>C	c.(2974-2976)gAg>gCg	p.E992A	PASK_ENST00000234040.4_Missense_Mutation_p.E992A|PASK_ENST00000358649.4_Missense_Mutation_p.E992A|PASK_ENST00000544142.1_Missense_Mutation_p.E806A|PASK_ENST00000539818.1_Missense_Mutation_p.E776A|PASK_ENST00000403638.3_Missense_Mutation_p.E992A	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	992					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTACTCGCCCTCACAGGCCGC	0.587																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2974-2976)gAg>gCg		PAS domain containing serine/threonine kinase							73.0	76.0	75.0					2																	242062244		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242062244T>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2975A>C	2.37:g.242062244T>G	ENSP00000384016:p.Glu992Ala					PASK_ENST00000405260.1_Missense_Mutation_p.E992A|PASK_ENST00000539818.1_Missense_Mutation_p.E776A|PASK_ENST00000544142.1_Missense_Mutation_p.E806A|PASK_ENST00000358649.4_Missense_Mutation_p.E992A|PASK_ENST00000234040.4_Missense_Mutation_p.E992A	p.E992A	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	12	3066	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	992					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2975A>C	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.967057	0.34754	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69926	-0.44;-0.43;-0.44;-0.4;-0.42;0.48	4.57	4.57	0.56435	.	0.000000	0.52532	D	0.000061	T	0.77438	0.4130	L	0.56769	1.78	0.47949	D	0.99955	B;B;B;D;B	0.61697	0.317;0.147;0.444;0.99;0.171	B;B;B;D;B	0.79108	0.251;0.339;0.434;0.992;0.128	T	0.79215	-0.1895	10	0.62326	D	0.03	.	12.4686	0.55773	0.0:0.0:0.0:1.0	.	957;806;992;992;992	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	A	992;806;992;992;776;992	ENSP00000234040:E992A;ENSP00000441374:E806A;ENSP00000384016:E992A;ENSP00000351475:E992A;ENSP00000443083:E776A;ENSP00000384438:E992A	ENSP00000234040:E992A	E	-	2	0	PASK	241710917	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	6.241000	0.72369	1.819000	0.53055	0.454000	0.30748	GAG		0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		5	42	0	0	0	1	0	5	42				
LRBA	987	broad.mit.edu	37	4	151749600	151749600	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151749600C>A	ENST00000357115.3	-	30	5146	c.4903G>T	c.(4903-4905)Gat>Tat	p.D1635Y	LRBA_ENST00000510413.1_Missense_Mutation_p.D1635Y|LRBA_ENST00000535741.1_Missense_Mutation_p.D1635Y|LRBA_ENST00000507224.1_Missense_Mutation_p.D1635Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1635						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATTGCATCTGGGCCTGCA	0.483																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4903-4905)Gat>Tat		LPS-responsive vesicle trafficking, beach and anchor containing							204.0	196.0	199.0					4																	151749600		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749600C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4903G>T	4.37:g.151749600C>A	ENSP00000349629:p.Asp1635Tyr					LRBA_ENST00000357115.3_Missense_Mutation_p.D1635Y|LRBA_ENST00000507224.1_Missense_Mutation_p.D1635Y|LRBA_ENST00000510413.1_Missense_Mutation_p.D1635Y	p.D1635Y			P50851	LRBA_HUMAN			30	5376	-	all_hematologic(180;0.151)		1635					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4903G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.319119|3.319119	0.60524|0.60524	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.64618|.	0.33;0.48;0.34;-0.11|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.115829|.	0.56097|.	D|.	0.000026|.	T|T	0.78679|0.78679	0.4321|0.4321	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.77940|0.77940	-0.2399|-0.2399	10|5	0.72032|.	D|.	0.01|.	.|.	19.7508|19.7508	0.96268|0.96268	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1635;1635|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	Y|H	1635|287	ENSP00000446299:D1635Y;ENSP00000421552:D1635Y;ENSP00000349629:D1635Y;ENSP00000422180:D1635Y|.	ENSP00000349629:D1635Y|.	D|Q	-|-	1|3	0|2	LRBA|LRBA	151969050|151969050	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.812000|0.812000	0.45895|0.45895	5.197000|5.197000	0.65141|0.65141	2.671000|2.671000	0.90904|0.90904	0.555000|0.555000	0.69702|0.69702	GAT|CAG		0.483	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			95	115	1	0	1.55521e-42	1	2.099e-42	95	115				
NSD1	64324	broad.mit.edu	37	5	176722240	176722240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176722240C>A	ENST00000439151.2	+	23	7916	c.7871C>A	c.(7870-7872)cCc>cAc	p.P2624H	NSD1_ENST00000347982.4_Missense_Mutation_p.P2355H|NSD1_ENST00000361032.4_Missense_Mutation_p.P2521H|NSD1_ENST00000354179.4_Missense_Mutation_p.P2355H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2624					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAGCAAAGTCCCTGGGCCCTG	0.587			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7870-7872)cCc>cAc		nuclear receptor binding SET domain protein 1							67.0	71.0	70.0					5																	176722240		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176722240C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7871C>A	5.37:g.176722240C>A	ENSP00000395929:p.Pro2624His	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.P2355H|NSD1_ENST00000361032.4_Missense_Mutation_p.P2521H|NSD1_ENST00000354179.4_Missense_Mutation_p.P2355H	p.P2624H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7916	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2624					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.7871C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315933	0.23908	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93906	-3.21;-3.21;-3.21;-3.31	4.71	3.81	0.43845	.	0.273853	0.26453	N	0.024281	D	0.88058	0.6335	L	0.27053	0.805	0.28861	N	0.895517	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.82820	-0.0268	10	0.87932	D	0	.	12.451	0.55677	0.1678:0.8322:0.0:0.0	.	2355;2624	Q96L73-2;Q96L73	.;NSD1_HUMAN	H	2355;2624;2355;2521	ENSP00000346111:P2355H;ENSP00000395929:P2624H;ENSP00000343209:P2355H;ENSP00000354310:P2521H	ENSP00000343209:P2355H	P	+	2	0	NSD1	176654846	0.995000	0.38212	1.000000	0.80357	0.903000	0.53119	3.028000	0.49705	1.164000	0.42652	0.462000	0.41574	CCC		0.587	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		7	49	1	0	0.00198382	1	0.00210581	7	49				
SPTBN4	57731	broad.mit.edu	37	19	41038566	41038566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41038566C>T	ENST00000352632.3	+	19	4069	c.3983C>T	c.(3982-3984)gCg>gTg	p.A1328V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A71V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A4V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1328V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1328					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1328V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGCTGATGGCGCGGGATGGC	0.612																																						ENST00000352632.3																			1	Substitution - Missense(1)	p.A1328V(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3982-3984)gCg>gTg		spectrin, beta, non-erythrocytic 4							70.0	61.0	64.0					19																	41038566		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41038566C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3983C>T	19.37:g.41038566C>T	ENSP00000263373:p.Ala1328Val					SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A71V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A4V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1328V	p.A1328V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		19	4069	+			1328					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3983C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200362	0.94997	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.72282	0.8;0.8;0.8;-0.64	4.86	4.86	0.63082	.	0.086903	0.44688	D	0.000423	D	0.83843	0.5342	M	0.78049	2.395	0.53688	D	0.999971	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.85130	0.992;0.997;0.996;0.948;0.996;0.966	D	0.83762	0.0215	10	0.40728	T	0.16	.	16.9138	0.86146	0.0:1.0:0.0:0.0	.	1328;71;71;4;1328;1328	E9PDB1;Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;.;SPTN4_HUMAN;.	V	1328;1328;1328;71;4	ENSP00000263373:A1328V;ENSP00000340345:A1328V;ENSP00000375879:A71V;ENSP00000375877:A4V	ENSP00000340345:A1328V	A	+	2	0	SPTBN4	45730406	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.815000	0.69215	2.499000	0.84300	0.561000	0.74099	GCG		0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			17	43	0	0	0	1	0	17	43				
PLCE1	51196	broad.mit.edu	37	10	95791321	95791321	+	Missense_Mutation	SNP	T	T	C	rs531313054		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95791321T>C	ENST00000371380.3	+	1	753	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLCE1_ENST00000260766.3_Missense_Mutation_p.I173T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	173					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGTGATCATAGAGACAGGC	0.433													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21984	0.0		0.0	False		,,,				2504	0.0					ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(517-519)aTa>aCa		phospholipase C, epsilon 1							87.0	85.0	85.0					10																	95791321		1973	4153	6126	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791321T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.518T>C	10.37:g.95791321T>C	ENSP00000360431:p.Ile173Thr					PLCE1_ENST00000371380.2_Missense_Mutation_p.I173T	p.I173T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1152	+		Colorectal(252;0.0458)	173					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.518T>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470593	0.04445	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.25749	1.78;1.78	4.73	0.81	0.18732	.	1.490710	0.04359	N	0.357158	T	0.15176	0.0366	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26677	-1.0096	10	0.49607	T	0.09	.	3.6157	0.08077	0.3307:0.1933:0.0:0.4761	.	173;173	B7ZM61;Q9P212	.;PLCE1_HUMAN	T	173	ENSP00000260766:I173T;ENSP00000360431:I173T	ENSP00000260766:I173T	I	+	2	0	PLCE1	95781311	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.278000	0.18753	0.277000	0.22141	0.533000	0.62120	ATA		0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		21	70	0	0	0	1	0	21	70				
KIAA2022	340533	broad.mit.edu	37	X	73959988	73959988	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73959988C>A	ENST00000055682.6	-	3	5015	c.4404G>T	c.(4402-4404)gaG>gaT	p.E1468D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1468					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTGTTCTCGCTCCATGTGCT	0.473																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4402-4404)gaG>gaT		KIAA2022							210.0	164.0	180.0					X																	73959988		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73959988C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4404G>T	X.37:g.73959988C>A	ENSP00000055682:p.Glu1468Asp					KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1468D	p.E1468D			Q5QGS0	K2022_HUMAN			3	5055	-			1468					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4404G>T	CCDS35337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.33|10.33	1.321566|1.321566	0.23994|0.23994	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000424929|ENST00000373468;ENST00000055682	.|T;T	.|0.36878	.|1.23;1.23	5.36|5.36	2.84|2.84	0.33178|0.33178	.|.	.|0.154190	.|0.56097	.|D	.|0.000022	T|T	0.19046|0.19046	0.0457|0.0457	N|N	0.14661|0.14661	0.345|0.345	0.39455|0.39455	D|D	0.967477|0.967477	.|B	.|0.17038	.|0.02	.|B	.|0.16722	.|0.016	T|T	0.06180|0.06180	-1.0841|-1.0841	5|10	.|0.44086	.|T	.|0.13	-10.3741|-10.3741	5.3231|5.3231	0.15891|0.15891	0.0:0.4645:0.2705:0.265|0.0:0.4645:0.2705:0.265	.|.	.|1468	.|Q5QGS0	.|K2022_HUMAN	S|D	70|1468	.|ENSP00000362567:E1468D;ENSP00000055682:E1468D	.|ENSP00000055682:E1468D	A|E	-|-	1|3	0|2	KIAA2022|KIAA2022	73876713|73876713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.644000|1.644000	0.37228|0.37228	0.131000|0.131000	0.18576|0.18576	0.544000|0.544000	0.68410|0.68410	GCG|GAG		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		26	41	1	0	7.33532e-06	1	8.36534e-06	26	41				
FAR1	84188	broad.mit.edu	37	11	13743357	13743357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13743357C>T	ENST00000354817.3	+	10	1352	c.1208C>T	c.(1207-1209)aCt>aTt	p.T403I	FAR1_ENST00000532502.1_Missense_Mutation_p.T27I	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	403					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTTTGGAATACTGAGAATGTC	0.294																																						ENST00000532502.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(79-81)aCt>aTt		fatty acyl CoA reductase 1							79.0	78.0	78.0					11																	13743357		2197	4290	6487	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13743357C>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1208C>T	11.37:g.13743357C>T	ENSP00000346874:p.Thr403Ile					FAR1_ENST00000354817.3_Missense_Mutation_p.T403I	p.T27I			Q8WVX9	FACR1_HUMAN			1	1908	+			403					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.80C>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011853	0.75046	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.24723	1.84	5.48	5.48	0.80851	.	0.194396	0.53938	D	0.000051	T	0.42921	0.1224	L	0.58354	1.805	0.51233	D	0.999918	P	0.45531	0.86	P	0.57009	0.811	T	0.13522	-1.0506	10	0.56958	D	0.05	-15.4666	14.1937	0.65656	0.1497:0.8503:0.0:0.0	.	403	Q8WVX9	FACR1_HUMAN	I	403;27	ENSP00000346874:T403I	ENSP00000346874:T403I	T	+	2	0	FAR1	13699933	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.735000	0.62051	2.734000	0.93682	0.563000	0.77884	ACT		0.294	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		20	31	0	0	0	1	0	20	31				
CFHR2	3080	broad.mit.edu	37	1	196884207	196884207	+	Intron	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196884207T>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Silent_p.L246L|CFHR4_ENST00000367418.2_Silent_p.L246L|CFHR4_ENST00000367416.2_Silent_p.L492L|CFHR4_ENST00000608469.1_Silent_p.L116L			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						ACTATGAACTTCAGGGTTCTA	0.413																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(1474-1476)ctT>ctA		complement factor H-related 4							219.0	217.0	217.0					1																	196884207		2201	4298	6499	SO:0001627	intron_variant	10877							g.chr1:196884207T>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34378T>A	1.37:g.196884207T>A						CFHR4_ENST00000251424.4_Silent_p.L246L|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Silent_p.L246L	p.L492L	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					9	1613	+								Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.1476T>A																																																																																					0.413	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		20	170	0	0	0	1	0	20	170				
TRPS1	7227	broad.mit.edu	37	8	116599751	116599751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:116599751G>T	ENST00000220888.5	-	4	2297	c.2138C>A	c.(2137-2139)aCt>aAt	p.T713N	TRPS1_ENST00000520276.1_Missense_Mutation_p.T717N|TRPS1_ENST00000519674.1_Missense_Mutation_p.T713N|TRPS1_ENST00000395715.3_Missense_Mutation_p.T726N|TRPS1_ENST00000519076.1_Missense_Mutation_p.T467N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	713	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGTGAACAGTGTTGAAGTG	0.502									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2176-2178)aCt>aAt		trichorhinophalangeal syndrome I							143.0	143.0	143.0					8																	116599751		2018	4180	6198	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599751G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2138C>A	8.37:g.116599751G>T	ENSP00000220888:p.Thr713Asn					TRPS1_ENST00000220888.5_Missense_Mutation_p.T713N|TRPS1_ENST00000520276.1_Missense_Mutation_p.T717N|TRPS1_ENST00000519076.1_Missense_Mutation_p.T467N|TRPS1_ENST00000519674.1_Missense_Mutation_p.T713N	p.T726N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	2754	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		713			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2177C>A		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552114	0.65311	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.056399	0.64402	D	0.000001	T	0.10380	0.0254	L	0.29908	0.895	0.42943	D	0.994354	P;P;P	0.41848	0.763;0.651;0.763	B;B;B	0.33960	0.173;0.084;0.173	T	0.03875	-1.0996	10	0.87932	D	0	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	717;713;726	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	726;713;467;717;713	ENSP00000379065:T726N;ENSP00000220888:T713N;ENSP00000428910:T467N;ENSP00000428680:T717N;ENSP00000429174:T713N	ENSP00000220888:T713N	T	-	2	0	TRPS1	116668926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.842000	0.86851	2.776000	0.95493	0.655000	0.94253	ACT		0.502	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		11	83	1	0	4.68919e-08	1	5.58064e-08	11	83				
SUFU	51684	broad.mit.edu	37	10	104386977	104386977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104386977G>A	ENST00000369902.3	+	11	1508	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	448					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGAGGATTTAGAAGATTTGAC	0.423			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(1342-1344)Gaa>Aaa		suppressor of fused homolog (Drosophila)							191.0	187.0	188.0					10																	104386977		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104386977G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1342G>A	10.37:g.104386977G>A	ENSP00000358918:p.Glu448Lys						p.E448K	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	11	1508	+		Colorectal(252;0.207)	448					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.1342G>A	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957363	0.53400	.	.	ENSG00000107882	ENST00000369902	T	0.43688	0.94	4.72	4.72	0.59763	Suppressor of fused C-terminal (1);	0.100889	0.64402	D	0.000002	T	0.34948	0.0915	L	0.40543	1.245	0.80722	D	1	B	0.22983	0.078	B	0.18871	0.023	T	0.10543	-1.0625	10	0.23302	T	0.38	-5.427	16.2192	0.82247	0.0:0.0:1.0:0.0	.	448	Q9UMX1	SUFU_HUMAN	K	448	ENSP00000358918:E448K	ENSP00000358918:E448K	E	+	1	0	SUFU	104376967	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.466000	0.73543	2.344000	0.79699	0.561000	0.74099	GAA		0.423	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		53	106	0	0	0	1	0	53	106				
CCDC74B	91409	broad.mit.edu	37	2	130897934	130897934	+	Missense_Mutation	SNP	C	C	T	rs372914463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130897934C>T	ENST00000310463.6	-	5	831	c.694G>A	c.(694-696)Gca>Aca	p.A232T	CCDC74B_ENST00000392984.3_Missense_Mutation_p.A334T|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Missense_Mutation_p.A166T	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	232										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GAGGCCTCTGCTTTCTCCTTT	0.637																																						ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1000-1002)Gca>Aca		coiled-coil domain containing 74B							84.0	90.0	88.0					2																	130897934		2203	4300	6503	SO:0001583	missense	91409							g.chr2:130897934C>T		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.694G>A	2.37:g.130897934C>T	ENSP00000308873:p.Ala232Thr					CCDC74B_ENST00000409943.3_Missense_Mutation_p.A166T|CCDC74B_ENST00000310463.6_Missense_Mutation_p.A232T	p.A334T			Q96LY2	CC74B_HUMAN			4	1743	-	Colorectal(110;0.1)		232					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.1000G>A	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	5.246	0.230944	0.09969	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.26373	1.82;1.81;1.74	2.5	1.6	0.23607	.	0.987542	0.08185	U	0.984830	T	0.13415	0.0325	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.006;0.007;0.007	B;B;B	0.10450	0.001;0.005;0.005	T	0.36529	-0.9744	10	0.07813	T	0.8	.	5.4874	0.16757	0.0:0.83:0.0:0.17	.	334;166;232	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	T	166;232;334	ENSP00000386294:A166T;ENSP00000308873:A232T;ENSP00000376710:A334T	ENSP00000308873:A232T	A	-	1	0	CCDC74B	130614404	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.828000	0.27435	0.380000	0.24823	-0.701000	0.03672	GCA		0.637	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		42	64	0	0	0	1	0	42	64				
INPPL1	3636	broad.mit.edu	37	11	71939482	71939482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71939482C>A	ENST00000298229.2	+	3	541	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	113	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTGTGCGCCCTGCTTCTTCC	0.672																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(337-339)Ctg>Atg		inositol polyphosphate phosphatase-like 1							59.0	63.0	61.0					11																	71939482		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71939482C>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.337C>A	11.37:g.71939482C>A	ENSP00000298229:p.Leu113Met					INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR	p.L113M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			3	541	+			113			SH2.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.337C>A	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	19.21	3.783224	0.70222	.	.	ENSG00000165458	ENST00000298229	D	0.99671	-6.35	4.45	4.45	0.53987	SH2 motif (2);	0.096544	0.43919	N	0.000510	D	0.99736	0.9896	H	0.96301	3.8	0.80722	D	1	D	0.63046	0.992	D	0.87578	0.998	D	0.97117	0.9808	10	0.87932	D	0	.	13.974	0.64259	0.0:1.0:0.0:0.0	.	113	O15357	SHIP2_HUMAN	M	113	ENSP00000298229:L113M	ENSP00000298229:L113M	L	+	1	2	INPPL1	71617130	0.998000	0.40836	1.000000	0.80357	0.883000	0.51084	1.798000	0.38814	2.314000	0.78098	0.561000	0.74099	CTG		0.672	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		14	66	1	0	1.3612e-06	1	1.57881e-06	14	66				
PROM2	150696	broad.mit.edu	37	2	95944853	95944853	+	Missense_Mutation	SNP	G	G	A	rs201902801		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95944853G>A	ENST00000317620.9	+	10	1368	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PROM2_ENST00000403131.2_Missense_Mutation_p.R412H|PROM2_ENST00000542147.1_Missense_Mutation_p.R412H|PROM2_ENST00000317668.4_Missense_Mutation_p.R412H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGAGCAGCCGCCCCTACCTG	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13317	0.0		0.0	False		,,,				2504	0.0					ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1234-1236)cGc>cAc		prominin 2		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4387		0,1,2193	17.0	18.0	18.0		1235,1235,1235	4.1	1.0	2		18	0,8572		0,0,4286	no	missense,missense,missense	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	29,29,29	0,1,6479	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging	412/835,412/835,412/835	95944853	1,12959	2194	4286	6480	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95944853G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1235G>A	2.37:g.95944853G>A	ENSP00000318270:p.Arg412His					PROM2_ENST00000317668.4_Missense_Mutation_p.R412H|PROM2_ENST00000403131.2_Missense_Mutation_p.R412H|PROM2_ENST00000542147.1_Missense_Mutation_p.R412H	p.R412H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			10	1368	+			412					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1235G>A	CCDS2012.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.94	3.730570	0.69074	2.28E-4	0.0	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.94	4.07	0.47477	.	0.319686	0.26496	N	0.024057	T	0.58495	0.2126	M	0.76574	2.34	0.34387	D	0.693727	D	0.71674	0.998	D	0.65773	0.938	T	0.68780	-0.5318	10	0.39692	T	0.17	-25.1156	9.5604	0.39366	0.0984:0.0:0.9016:0.0	.	412	Q8N271	PROM2_HUMAN	H	412	ENSP00000385716:R412H;ENSP00000318520:R412H;ENSP00000318270:R412H;ENSP00000442542:R412H	ENSP00000318270:R412H	R	+	2	0	PROM2	95308580	0.971000	0.33674	1.000000	0.80357	0.775000	0.43874	1.634000	0.37123	1.214000	0.43395	-0.192000	0.12808	CGC		0.682	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		8	10	0	0	0	1	0	8	10				
MAP4K5	11183	broad.mit.edu	37	14	50892641	50892641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50892641C>T	ENST00000013125.4	-	30	2699	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	794	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGACTTGAAGCTTTTACCCTG	0.403																																						ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(2380-2382)aGc>aAc		mitogen-activated protein kinase kinase kinase kinase 5							90.0	85.0	86.0					14																	50892641		1917	4144	6061	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50892641C>T	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2381G>A	14.37:g.50892641C>T	ENSP00000013125:p.Ser794Asn						p.S794N	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			30	2699	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		794			CNH.		Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.2381G>A		.	.	.	.	.	.	.	.	.	.	C	15.56	2.870645	0.51588	.	.	ENSG00000012983	ENST00000013125	T	0.05139	3.49	5.55	5.55	0.83447	Citron-like (3);	0.074226	0.85682	D	0.000000	T	0.07908	0.0198	L	0.43554	1.36	0.53005	D	0.999965	B;B	0.14805	0.011;0.006	B;B	0.20577	0.03;0.015	T	0.12708	-1.0537	10	0.45353	T	0.12	.	12.8064	0.57616	0.0:0.9252:0.0:0.0747	.	794;794	B2R928;Q9Y4K4	.;M4K5_HUMAN	N	794	ENSP00000013125:S794N	ENSP00000013125:S794N	S	-	2	0	MAP4K5	49962391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.855000	0.62925	2.616000	0.88540	0.561000	0.74099	AGC		0.403	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		9	12	0	0	0	1	0	9	12				
ARHGEF6	9459	broad.mit.edu	37	X	135750301	135750301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135750301C>T	ENST00000250617.6	-	22	3423	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E586K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E586K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E613K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	740					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTTCTTCCAGGCATTGC	0.473																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(2218-2220)Gaa>Aaa		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							236.0	192.0	207.0					X																	135750301		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135750301C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2218G>A	X.37:g.135750301C>T	ENSP00000250617:p.Glu740Lys					ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E613K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E586K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E586K	p.E740K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			22	3423	-	Acute lymphoblastic leukemia(192;0.000127)		740					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.2218G>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152554	0.78001	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.63744	-0.02;0.11;0.11;-0.06	5.49	5.49	0.81192	.	0.149585	0.64402	D	0.000013	T	0.65080	0.2657	M	0.72894	2.215	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.17433	0.011;0.018	T	0.64571	-0.6376	10	0.87932	D	0	.	17.267	0.87089	0.0:1.0:0.0:0.0	.	613;740	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	740;586;586;586;613	ENSP00000250617:E740K;ENSP00000359654:E586K;ENSP00000359656:E586K;ENSP00000439483:E613K	ENSP00000250617:E740K	E	-	1	0	ARHGEF6	135577967	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.063000	0.76714	2.288000	0.76882	0.513000	0.50165	GAA		0.473	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		37	97	0	0	0	1	0	37	97				
PCDHB2	56133	broad.mit.edu	37	5	140475165	140475165	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475165C>T	ENST00000194155.4	+	1	939	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGGTTGCCATCGTCTCT	0.468																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(790-792)gCc>gTc									69.0	69.0	69.0					5																	140475165		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475165C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.791C>T	5.37:g.140475165C>T	ENSP00000194155:p.Ala264Val						p.A264V	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	939	+			264			Cadherin 3.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.791C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.221587	0.00283	.	.	ENSG00000112852	ENST00000194155	T	0.51574	0.7	5.42	3.26	0.37387	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19644	0.0472	N	0.02865	-0.47	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.23619	-1.0183	9	0.09338	T	0.73	.	7.0573	0.25106	0.0:0.659:0.0:0.341	.	264	Q9Y5E7	PCDB2_HUMAN	V	264	ENSP00000194155:A264V	ENSP00000194155:A264V	A	+	2	0	PCDHB2	140455349	0.001000	0.12720	0.047000	0.18901	0.099000	0.18886	1.374000	0.34283	1.425000	0.47237	-0.136000	0.14681	GCC		0.468	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		28	57	0	0	0	1	0	28	57				
NLGN2	57555	broad.mit.edu	37	17	7311772	7311772	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7311772C>T	ENST00000302926.2	+	1	271	c.198C>T	c.(196-198)gtC>gtT	p.V66V	NLGN2_ENST00000575301.1_Silent_p.V66V|NLGN2_ENST00000572893.1_Intron	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	66					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGGCCCCGTCGTGCAGTTCT	0.746																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(196-198)gtC>gtT		neuroligin 2							8.0	7.0	8.0					17																	7311772		2072	4097	6169	SO:0001819	synonymous_variant	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7311772C>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.198C>T	17.37:g.7311772C>T						NLGN2_ENST00000572893.1_Intron|NLGN2_ENST00000575301.1_Silent_p.V66V	p.V66V	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			1	271	+		Prostate(122;0.157)	66					Q9P2I1	Silent	SNP	ENST00000302926.2	37	c.198C>T	CCDS11103.1																																																																																				0.746	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		3	2	0	0	0	1	0	3	2				
TBC1D4	9882	broad.mit.edu	37	13	75887029	75887029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75887029C>T	ENST00000377636.3	-	13	2574	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	TBC1D4_ENST00000377625.2_Missense_Mutation_p.G680E|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G735E|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	743	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTCCCTTCTCCATCACTGTT	0.488																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2227-2229)gGa>gAa		TBC1 domain family, member 4							59.0	62.0	61.0					13																	75887029		2041	4192	6233	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75887029C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2228G>A	13.37:g.75887029C>T	ENSP00000366863:p.Gly743Glu					TBC1D4_ENST00000377625.2_Missense_Mutation_p.G680E|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G735E|TBC1D4_ENST00000425511.1_5'UTR	p.G743E	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	13	2574	-		Prostate(6;0.014)|Breast(118;0.0982)	743			Ser-rich.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2228G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190789	0.58017	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.53	5.53	0.82687	.	0.282136	0.31092	N	0.008268	T	0.62405	0.2425	L	0.50333	1.59	0.80722	D	1	P;D;P	0.56035	0.835;0.974;0.916	B;P;P	0.54590	0.386;0.756;0.545	T	0.55648	-0.8108	10	0.30078	T	0.28	-10.6701	19.8372	0.96661	0.0:1.0:0.0:0.0	.	680;735;743	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	E	743;735;680;192	ENSP00000366863:G743E;ENSP00000395986:G735E;ENSP00000366852:G680E;ENSP00000396932:G192E	ENSP00000366852:G680E	G	-	2	0	TBC1D4	74785030	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.238000	0.78173	2.770000	0.95276	0.655000	0.94253	GGA		0.488	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		7	23	0	0	0	1	0	7	23				
COG1	9382	broad.mit.edu	37	17	71197678	71197678	+	Missense_Mutation	SNP	G	G	A	rs141750466	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71197678G>A	ENST00000299886.4	+	7	1792	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	571					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGATGCTGCGGACTCAGTCC	0.567													G|||	3	0.000599042	0.0	0.0	5008	,	,		23325	0.0		0.003	False		,,,				2504	0.0					ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1711-1713)cGg>cAg		component of oligomeric golgi complex 1		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	94.0	78.0	84.0		1712	-3.7	0.0	17	dbSNP_134	84	38,8562	25.7+/-73.6	1,36,4263	yes	missense	COG1	NM_018714.2	43	1,39,6463	AA,AG,GG		0.4419,0.0681,0.3152	benign	571/981	71197678	41,12965	2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197678G>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1712G>A	17.37:g.71197678G>A	ENSP00000299886:p.Arg571Gln						p.R571Q	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	1792	+			571					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1712G>A	CCDS11692.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	8.985	0.976328	0.18736	6.81E-4	0.004419	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.24723	1.84;1.84	5.29	-3.68	0.04463	.	0.308756	0.35585	N	0.003114	T	0.10594	0.0259	N	0.12887	0.27	0.29717	N	0.838982	B;B;B	0.17667	0.023;0.005;0.023	B;B;B	0.13407	0.009;0.007;0.009	T	0.35525	-0.9785	10	0.05833	T	0.94	-9.2241	14.6125	0.68526	0.0935:0.0:0.9065:0.0	.	571;571;571	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	Q	571	ENSP00000400111:R571Q;ENSP00000299886:R571Q	ENSP00000299886:R571Q	R	+	2	0	COG1	68709273	0.970000	0.33590	0.004000	0.12327	0.056000	0.15407	1.711000	0.37930	-1.095000	0.03050	0.655000	0.94253	CGG		0.567	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			30	45	0	0	0	1	0	30	45				
EPS8L1	54869	broad.mit.edu	37	19	55590426	55590426	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55590426G>A	ENST00000201647.6	+	4	173		c.e4+1		EPS8L1_ENST00000592824.1_Splice_Site|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1						positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCAGTCAATGTGAGTCTGGG	0.557																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.e4+1		EPS8-like 1							129.0	105.0	113.0					19																	55590426		2203	4300	6503	SO:0001630	splice_region_variant	54869					cytoplasm		g.chr19:55590426G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.117+1G>A	19.37:g.55590426G>A						EPS8L1_ENST00000592824.1_Splice_Site|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron		NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	173	+								Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Splice_Site	SNP	ENST00000201647.6	37		CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187176	0.57909	.	.	ENSG00000131037	ENST00000201647	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9201	0.52787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPS8L1	60282238	1.000000	0.71417	0.992000	0.48379	0.912000	0.54170	5.098000	0.64548	1.936000	0.56123	0.561000	0.74099	.		0.557	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729	Intron	17	28	0	0	0	1	0	17	28				
SLC4A1AP	22950	broad.mit.edu	37	2	27887975	27887975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887975G>T	ENST00000326019.6	+	2	1116	c.834G>T	c.(832-834)gaG>gaT	p.E278D	SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	278						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGGGACCAGAGGAAGACCGAG	0.453																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(832-834)gaG>gaT		solute carrier family 4 (anion exchanger), member 1, adaptor protein							109.0	118.0	115.0					2																	27887975		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27887975G>T		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.834G>T	2.37:g.27887975G>T	ENSP00000323837:p.Glu278Asp						p.E278D	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			2	1116	+	Acute lymphoblastic leukemia(172;0.155)		278					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.834G>T	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814432	0.32053	.	.	ENSG00000163798	ENST00000326019	T	0.37411	1.2	5.35	1.03	0.20045	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.60455	1.87	0.54753	D	0.999985	B	0.33345	0.409	B	0.30716	0.119	T	0.07481	-1.0770	10	0.28530	T	0.3	-19.2232	11.0585	0.47933	0.3769:0.0:0.6231:0.0	.	278	Q9BWU0	NADAP_HUMAN	D	278	ENSP00000323837:E278D	ENSP00000323837:E278D	E	+	3	2	SLC4A1AP	27741479	0.996000	0.38824	1.000000	0.80357	0.897000	0.52465	0.350000	0.20079	0.260000	0.21731	-0.369000	0.07265	GAG		0.453	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		25	60	1	0	3.01185e-09	1	3.6461e-09	25	60				
JAM3	83700	broad.mit.edu	37	11	134009793	134009793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134009793G>T	ENST00000299106.4	+	2	283	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	JAM3_ENST00000529443.2_Missense_Mutation_p.V87L|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Missense_Mutation_p.V42L			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	42	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCGAACCCCAGTGGTACAGGA	0.438											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(124-126)Gtg>Ttg		junctional adhesion molecule 3							134.0	122.0	126.0					11																	134009793		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134009793G>T	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.124G>T	11.37:g.134009793G>T	ENSP00000299106:p.Val42Leu		OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1607	JAM3_ENST00000529443.2_Missense_Mutation_p.V87L|JAM3_ENST00000441717.3_Missense_Mutation_p.V42L|JAM3_ENST00000524969.1_3'UTR	p.V42L			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	2	283	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	42			Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.124G>T	CCDS8494.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.681871|3.681871	0.68042|0.68042	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000531698;ENST00000529443|ENST00000299106;ENST00000441717	.|T	.|0.22539	.|1.95	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.420146	.|0.27406	.|N	.|0.019503	T|T	0.38427|0.38427	0.1040|0.1040	M|M	0.63843|0.63843	1.955|1.955	0.45452|0.45452	D|D	0.998421|0.998421	.|D;D	.|0.54047	.|0.964;0.964	.|P;P	.|0.58013	.|0.831;0.831	T|T	0.07009|0.07009	-1.0795|-1.0795	5|10	.|0.10636	.|T	.|0.68	.|.	19.4347|19.4347	0.94786|0.94786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|42;42	.|B3KWG9;Q9BX67	.|.;JAM3_HUMAN	I|L	46|87;42	.|ENSP00000395742:V42L	.|ENSP00000299106:V87L	S|V	+|+	2|1	0|0	JAM3|JAM3	133515003|133515003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	4.660000|4.660000	0.61511|0.61511	2.588000|2.588000	0.87417|0.87417	0.551000|0.551000	0.68910|0.68910	AGT|GTG		0.438	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		18	29	1	0	3.51602e-12	1	4.4132e-12	18	29				
CDKL4	344387	broad.mit.edu	37	2	39440541	39440541	+	Splice_Site	SNP	G	G	A	rs375514414		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440541G>A	ENST00000395035.3	-	3	362	c.363C>T	c.(361-363)aaC>aaT	p.N121N	CDKL4_ENST00000378803.1_Splice_Site_p.N121N			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGTTACTTACGTTATGTATAT	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		18274	0.001		0.0	False		,,,				2504	0.0					ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.e3+1		cyclin-dependent kinase-like 4		G		1,4405	2.1+/-5.4	0,1,2202	71.0	78.0	75.0		363	-4.6	0.9	2		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	CDKL4	NM_001009565.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		121/316	39440541	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39440541G>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.363+1C>T	2.37:g.39440541G>A						CDKL4_ENST00000395035.3_Splice_Site_p.N121_splice	p.N121_splice	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			3	362	-		all_hematologic(82;0.248)	121			Protein kinase.		Q2NME9	Splice_Site	SNP	ENST00000395035.3	37	c.363_splice																																																																																					0.328	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029	Silent	25	32	0	0	0	1	0	25	32				
COL7A1	1294	broad.mit.edu	37	3	48605530	48605530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48605530C>T	ENST00000328333.8	-	105	7975	c.7868G>A	c.(7867-7869)gGc>gAc	p.G2623D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2591D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2623	Triple-helical region.		G -> C (in PR-DEB; dominant). {ECO:0000269|PubMed:8541842}.		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGAGGCCCCGGGGACC	0.537																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CM071644|CM083610	COL7A1	M		c.(7867-7869)gGc>gAc		collagen, type VII, alpha 1							74.0	71.0	72.0					3																	48605530		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605530C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7868G>A	3.37:g.48605530C>T	ENSP00000332371:p.Gly2623Asp					COL7A1_ENST00000454817.1_Missense_Mutation_p.G2591D	p.G2623D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	105	7975	-			2623		G -> C (in PR-DEB; dominant).	Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7868G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	9.737	1.163791	0.21538	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99619	-6.28;-6.28	5.29	4.42	0.53409	.	0.000000	0.46442	D	0.000293	D	0.99477	0.9814	H	0.96333	3.805	0.38099	D	0.937219	P	0.43314	0.803	P	0.47744	0.556	D	0.99560	1.0968	10	0.87932	D	0	.	8.9706	0.35903	0.0:0.7769:0.0:0.2231	.	2623	Q02388	CO7A1_HUMAN	D	2623;2591	ENSP00000332371:G2623D;ENSP00000412569:G2591D	ENSP00000332371:G2623D	G	-	2	0	COL7A1	48580534	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	6.545000	0.73883	1.244000	0.43870	-0.251000	0.11542	GGC		0.537	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		19	44	0	0	0	1	0	19	44				
ATAD5	79915	broad.mit.edu	37	17	29161853	29161853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29161853G>A	ENST00000321990.4	+	2	1132	c.754G>A	c.(754-756)Gta>Ata	p.V252I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	252					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAGATAACGTAACTGAAGC	0.348																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(754-756)Gta>Ata		ATPase family, AAA domain containing 5							74.0	77.0	76.0					17																	29161853		2203	4298	6501	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161853G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.754G>A	17.37:g.29161853G>A	ENSP00000313171:p.Val252Ile					CTD-2349P21.11_ENST00000580873.1_RNA	p.V252I	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	1132	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	252					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.754G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	1.642	-0.516134	0.04200	.	.	ENSG00000176208	ENST00000321990	T	0.17528	2.27	5.31	-1.87	0.07737	.	1.536260	0.03690	N	0.246996	T	0.04770	0.0129	N	0.01267	-0.92	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.09377	0.004;0.002	T	0.36866	-0.9730	10	0.02654	T	1	.	6.6283	0.22843	0.392:0.1244:0.4836:0.0	.	252;252	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	252	ENSP00000313171:V252I	ENSP00000313171:V252I	V	+	1	0	ATAD5	26185979	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.804000	0.27098	0.038000	0.15604	0.655000	0.94253	GTA		0.348	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		27	71	0	0	0	1	0	27	71				
TAS2R19	259294	broad.mit.edu	37	12	11174505	11174505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174505C>A	ENST00000390673.2	-	1	714	c.666G>T	c.(664-666)aaG>aaT	p.K222N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	222					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTATATGGACCTTGGTGCTGG	0.403																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(664-666)aaG>aaT		taste receptor, type 2, member 19							162.0	158.0	160.0					12																	11174505		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174505C>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.666G>T	12.37:g.11174505C>A	ENSP00000375091:p.Lys222Asn					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.K222N	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	714	-			222					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.666G>T	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249453	0.39797	.	.	ENSG00000212124	ENST00000390673	T	0.42900	0.96	2.69	1.77	0.24775	.	1.046760	0.07611	U	0.925324	T	0.68201	0.2975	M	0.90145	3.09	0.09310	N	1	D	0.63046	0.992	D	0.73380	0.98	T	0.47661	-0.9100	10	0.87932	D	0	.	7.5963	0.28050	0.0:0.8604:0.0:0.1396	.	222	P59542	T2R19_HUMAN	N	222	ENSP00000375091:K222N	ENSP00000375091:K222N	K	-	3	2	TAS2R19	11065772	0.000000	0.05858	0.145000	0.22337	0.090000	0.18270	-0.636000	0.05465	0.463000	0.27118	0.405000	0.27470	AAG		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		7	167	1	0	0.00198382	1	0.00210581	7	167				
NKRF	55922	broad.mit.edu	37	X	118724034	118724034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118724034C>T	ENST00000371527.1	-	2	2006	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M	NKRF_ENST00000304449.5_Missense_Mutation_p.V452M|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.V467M	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	452					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCGTGCACACGGGATTTGAA	0.423																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1354-1356)Gtg>Atg		NFKB repressing factor							104.0	97.0	99.0					X																	118724034		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724034C>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1354G>A	X.37:g.118724034C>T	ENSP00000360582:p.Val452Met					NKRF_ENST00000304449.5_Missense_Mutation_p.V452M|NKRF_ENST00000542113.1_Missense_Mutation_p.V467M|NKRF_ENST00000487600.1_Intron	p.V452M	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2006	-			452					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1354G>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730702	0.48939	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.78816	-1.21;-1.21;-1.21	5.49	5.49	0.81192	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.056607	0.64402	D	0.000001	D	0.84511	0.5488	L	0.59436	1.845	0.50313	D	0.999864	D	0.89917	1.0	P	0.59825	0.864	D	0.86135	0.1577	10	0.72032	D	0.01	-12.7434	17.3043	0.87191	0.0:1.0:0.0:0.0	.	452	O15226	NKRF_HUMAN	M	452;452;467	ENSP00000360582:V452M;ENSP00000304803:V452M;ENSP00000442308:V467M	ENSP00000304803:V452M	V	-	1	0	NKRF	118608062	1.000000	0.71417	0.987000	0.45799	0.837000	0.47467	5.711000	0.68400	2.298000	0.77334	0.600000	0.82982	GTG		0.423	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		57	65	0	0	0	1	0	57	65				
GP6	51206	broad.mit.edu	37	19	55526304	55526304	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55526304G>A	ENST00000417454.1	-	8	1032	c.1005C>T	c.(1003-1005)cgC>cgT	p.R335R	CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Silent_p.R317R|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.R337W	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	335			R -> G (in dbSNP:rs1654412).		blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AACATAACCCGCGGCTGTGAA	0.642																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1009-1011)Cgg>Tgg		glycoprotein VI (platelet)							43.0	48.0	46.0					19																	55526304		2137	4232	6369	SO:0001819	synonymous_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55526304G>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.1005C>T	19.37:g.55526304G>A						GP6_ENST00000333884.2_Silent_p.R317R|GP6_ENST00000417454.1_Silent_p.R335R|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	p.R337W	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	8	1036	-			0					Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.1009C>T	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236203	0.22626	.	.	ENSG00000088053	ENST00000310373	T	0.00567	6.54	2.65	-0.985	0.10256	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	0.999995	B	0.10296	0.003	B	0.04013	0.001	T	0.49214	-0.8963	8	0.87932	D	0	.	0.3126	0.00290	0.3701:0.2609:0.1545:0.2145	.	337	Q9HCN6-3	.	W	337	ENSP00000308782:R337W	ENSP00000308782:R337W	R	-	1	2	GP6	60218116	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.760000	0.00786	-0.291000	0.09012	-0.311000	0.09066	CGG		0.642	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			10	17	0	0	0	1	0	10	17				
TAS1R2	80834	broad.mit.edu	37	1	19166109	19166109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19166109G>A	ENST00000375371.3	-	6	2525	c.2504C>T	c.(2503-2505)aCc>aTc	p.T835I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	835					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTCCTCATGGTGTAGCCCTG	0.622																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2503-2505)aCc>aTc		taste receptor, type 1, member 2	Aspartame(DB00168)						75.0	58.0	64.0					1																	19166109		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166109G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2504C>T	1.37:g.19166109G>A	ENSP00000364520:p.Thr835Ile						p.T835I	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2525	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	835					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2504C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602632	0.66445	.	.	ENSG00000179002	ENST00000375371	D	0.89485	-2.52	5.19	5.19	0.71726	.	0.000000	0.49916	D	0.000133	D	0.92482	0.7613	L	0.52905	1.665	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	D	0.92195	0.5763	10	0.48119	T	0.1	.	14.2757	0.66179	0.0:0.0:1.0:0.0	.	835	Q8TE23	TS1R2_HUMAN	I	835	ENSP00000364520:T835I	ENSP00000364520:T835I	T	-	2	0	TAS1R2	19038696	1.000000	0.71417	0.998000	0.56505	0.603000	0.37013	7.069000	0.76755	2.426000	0.82243	0.645000	0.84053	ACC		0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			6	13	0	0	0	1	0	6	13				
TRIM3	10612	broad.mit.edu	37	11	6478090	6478090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6478090C>T	ENST00000525074.1	-	6	1260	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000359518.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000536344.1_Missense_Mutation_p.R170Q|TRIM3_ENST00000345851.3_Missense_Mutation_p.R289Q	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	289					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGTGGCCGCTCCGGGAA	0.667																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(865-867)cGg>cAg		tripartite motif containing 3							58.0	53.0	55.0					11																	6478090		2196	4282	6478	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478090C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.866G>A	11.37:g.6478090C>T	ENSP00000433102:p.Arg289Gln					TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.R170Q|TRIM3_ENST00000345851.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R289Q	p.R289Q	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1260	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	289					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.866G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	6.646	0.487775	0.12641	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344	T;T;T;D	0.82803	-0.53;-0.53;-0.53;-1.65	5.27	5.27	0.74061	.	0.306232	0.37219	N	0.002182	T	0.64461	0.2600	N	0.14661	0.345	0.29552	N	0.851297	B;B;B	0.13594	0.004;0.008;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.53063	-0.8491	10	0.07813	T	0.8	-13.0167	8.2335	0.31612	0.0:0.8301:0.0:0.1699	.	170;170;289	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	Q	289;289;289;289;278;289;170	ENSP00000433102:R289Q;ENSP00000340797:R289Q;ENSP00000352508:R289Q;ENSP00000445460:R170Q	ENSP00000337094:R278Q	R	-	2	0	TRIM3	6434666	0.990000	0.36364	0.955000	0.39395	0.972000	0.66771	1.925000	0.40074	2.472000	0.83506	0.563000	0.77884	CGG		0.667	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		25	60	0	0	0	1	0	25	60				
KDM5A	5927	broad.mit.edu	37	12	464374	464374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:464374C>T	ENST00000399788.2	-	7	1182	c.820G>A	c.(820-822)Gca>Aca	p.A274T	KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	274					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGTTAAATGCGTCTGACCTG	0.373			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(820-822)Gca>Aca		lysine (K)-specific demethylase 5A							142.0	134.0	137.0					12																	464374		1868	4100	5968	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:464374C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.820G>A	12.37:g.464374C>T	ENSP00000382688:p.Ala274Thr					KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			7	1182	-			274					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.820G>A	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033980	0.54896	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.85411	-1.98;-1.79	5.49	4.6	0.57074	.	0.307134	0.34959	N	0.003557	D	0.86719	0.6000	L	0.42245	1.32	0.48975	D	0.999739	P;D;D	0.69078	0.544;0.989;0.997	B;P;P	0.61800	0.042;0.636;0.894	D	0.83361	0.0002	10	0.14656	T	0.56	-2.8505	14.6633	0.68888	0.0:0.9301:0.0:0.0699	.	274;274;274	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	T	233;274;274	ENSP00000382688:A274T;ENSP00000372265:A274T	ENSP00000372265:A274T	A	-	1	0	KDM5A	334635	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.113000	0.64640	1.495000	0.48549	-0.244000	0.11960	GCA		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		25	50	0	0	0	1	0	25	50				
SEC14L5	9717	broad.mit.edu	37	16	5046882	5046882	+	Silent	SNP	G	G	A	rs370633760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5046882G>A	ENST00000251170.7	+	8	987	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	269						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACATCCTTCGGTTCCTGCGGG	0.542																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(805-807)cgG>cgA		SEC14-like 5 (S. cerevisiae)							71.0	70.0	70.0					16																	5046882		1912	4123	6035	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5046882G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.807G>A	16.37:g.5046882G>A							p.R269R	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			8	987	+			269						Silent	SNP	ENST00000251170.7	37	c.807G>A	CCDS45403.1																																																																																				0.542	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			14	18	0	0	0	1	0	14	18				
ATG2A	23130	broad.mit.edu	37	11	64674212	64674212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64674212C>T	ENST00000377264.3	-	20	3020	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I	ATG2A_ENST00000421419.2_Missense_Mutation_p.V970I	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	970					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TACTGGGAGACGCTGAAGAGG	0.622																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2908-2910)Gtc>Atc		autophagy related 2A							93.0	81.0	85.0					11																	64674212		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64674212C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2908G>A	11.37:g.64674212C>T	ENSP00000366475:p.Val970Ile					ATG2A_ENST00000377264.3_Missense_Mutation_p.V970I	p.V970I			Q2TAZ0	ATG2A_HUMAN			20	3022	-			970					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2908G>A	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.42|19.42	3.824615|3.824615	0.71143|0.71143	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.56776	.|0.44;0.44	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.73575|0.73575	0.3604|0.3604	M|M	0.78456|0.78456	2.415|2.415	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.76575	.|0.988	T|T	0.76358|0.76358	-0.2988|-0.2988	5|10	.|0.72032	.|D	.|0.01	.|.	17.0195|17.0195	0.86429|0.86429	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|970	.|Q2TAZ0	.|ATG2A_HUMAN	H|I	771|970	.|ENSP00000410522:V970I;ENSP00000366475:V970I	.|ENSP00000366475:V970I	R|V	-|-	2|1	0|0	ATG2A|ATG2A	64430788|64430788	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.037000|0.037000	0.13140|0.13140	7.174000|7.174000	0.77620|0.77620	2.689000|2.689000	0.91719|0.91719	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.622	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		10	47	0	0	0	1	0	10	47				
VWA3A	146177	broad.mit.edu	37	16	22142596	22142596	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22142596T>G	ENST00000389398.5	+	18	1819	c.1723T>G	c.(1723-1725)Tgg>Ggg	p.W575G	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	575	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAAAGTGCCTGGCGGTAGGT	0.493																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1723-1725)Tgg>Ggg		von Willebrand factor A domain containing 3A							71.0	71.0	71.0					16																	22142596		1958	4142	6100	SO:0001583	missense	146177					extracellular region		g.chr16:22142596T>G	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1723T>G	16.37:g.22142596T>G	ENSP00000374049:p.Trp575Gly					VWA3A_ENST00000389397.4_5'UTR	p.W575G	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	18	1819	+			575			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1723T>G	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572792	0.65765	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.07444	3.19	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.02668	-1.1126	10	0.62326	D	0.03	.	13.8858	0.63708	0.0:0.0:0.0:1.0	.	575;199	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	G	575;198	ENSP00000374049:W575G	ENSP00000299840:W198G	W	+	1	0	VWA3A	22050097	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.018000	0.64054	1.955000	0.56771	0.456000	0.33151	TGG		0.493	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			14	19	0	0	0	1	0	14	19				
TBC1D15	64786	broad.mit.edu	37	12	72265893	72265893	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72265893G>T	ENST00000550746.1	+	2	138	c.74G>T	c.(73-75)gGa>gTa	p.G25V	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G25V|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G33V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	25					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATCTTGTGGAAAGACCAAT	0.274																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(73-75)gGa>gTa		TBC1 domain family, member 15							104.0	108.0	107.0					12																	72265893		2203	4292	6495	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72265893G>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.74G>T	12.37:g.72265893G>T	ENSP00000448182:p.Gly25Val					TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G33V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G25V	p.G25V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			2	138	+			25					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.74G>T	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329514	0.60743	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.30448	1.53;1.53;1.53	5.31	3.42	0.39159	Domain of unknown function DUF3548 (1);	0.605087	0.18155	N	0.149945	T	0.48804	0.1520	L	0.51422	1.61	0.80722	D	1	P;D;D	0.89917	0.803;1.0;0.998	P;D;D	0.72625	0.529;0.978;0.927	T	0.38112	-0.9676	10	0.40728	T	0.16	-11.3161	15.5711	0.76337	0.0:0.2485:0.7515:0.0	.	33;25;25	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	V	25;33;25	ENSP00000448182:G25V;ENSP00000318262:G33V;ENSP00000420678:G25V	ENSP00000318262:G33V	G	+	2	0	TBC1D15	70552160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	0.692000	0.31613	0.561000	0.74099	GGA		0.274	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		7	72	1	0	0.000157383	1	0.00017284	7	72				
DNHD1	144132	broad.mit.edu	37	11	6541320	6541320	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541320C>A	ENST00000527990.2	+	7	1773	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	DNHD1_ENST00000354685.3_Silent_p.T591T|DNHD1_ENST00000254579.6_Silent_p.T591T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	591					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCAAGACCTCTGCCTTGC	0.478																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1771-1773)acC>acA		dynein heavy chain domain 1							82.0	75.0	77.0					11																	6541320		2201	4296	6497	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541320C>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1773C>A	11.37:g.6541320C>A						DNHD1_ENST00000354685.3_Silent_p.T591T|DNHD1_ENST00000527990.2_Silent_p.T591T	p.T591T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	9	2337	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	591					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.1773C>A	CCDS44532.1																																																																																				0.478	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		11	65	1	0	4.68919e-08	1	5.58064e-08	11	65				
STK11	6794	broad.mit.edu	37	19	1220378	1220378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1220378C>T	ENST00000326873.7	+	4	1644	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		F -> S (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTACTTCTGTCAGCTGA	0.642		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		28	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)	p.0?(20)|p.Y156fs*87(4)|p.?(4)	cervix(15)|lung(9)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(469-471)ttC>ttT		serine/threonine kinase 11							39.0	44.0	42.0					19																	1220378		2077	4224	6301	SO:0001819	synonymous_variant	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1220378C>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.471C>T	19.37:g.1220378C>T		TSP Lung(3;<1E-08)					p.F157F	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1644	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	157		F -> S (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).	Protein kinase.		B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	c.471C>T	CCDS45896.1																																																																																				0.642	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		3	2	0	0	0	1	0	3	2				
OR4M1	441670	broad.mit.edu	37	14	20248810	20248810	+	Missense_Mutation	SNP	C	C	T	rs368981146		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248810C>T	ENST00000315957.4	+	1	410	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S110L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGGGGCTTCGGAGATGTTC	0.478													.|||	1	0.000199681	0.0008	0.0	5008	,	,		28220	0.0		0.0	False		,,,				2504	0.0					ENST00000315957.4																			1	Substitution - Missense(1)	p.S110L(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(328-330)tCg>tTg		olfactory receptor, family 4, subfamily M, member 1			LEU/SER	1,4405		0,1,2202	229.0	244.0	239.0		329	4.2	0.9	14		239	1,8599		0,1,4299	no	missense	OR4M1	NM_001005500.1	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	110/314	20248810	2,13004	2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248810C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.329C>T	14.37:g.20248810C>T	ENSP00000319654:p.Ser110Leu						p.S110L	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	410	+	all_cancers(95;0.00108)		110					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.329C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.07	2.425412	0.43020	2.27E-4	1.16E-4	ENSG00000176299	ENST00000315957	T	0.00902	5.56	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000951	T	0.01029	0.0034	L	0.39085	1.19	0.09310	N	1	D	0.53745	0.962	B	0.36719	0.231	T	0.56232	-0.8013	10	0.87932	D	0	-7.6296	14.4139	0.67135	0.0:1.0:0.0:0.0	.	110	Q8NGD0	OR4M1_HUMAN	L	110	ENSP00000319654:S110L	ENSP00000319654:S110L	S	+	2	0	OR4M1	19318650	0.000000	0.05858	0.930000	0.37139	0.921000	0.55340	1.180000	0.32005	2.338000	0.79540	0.401000	0.26515	TCG		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			80	217	0	0	0	1	0	80	217				
GRM7	2917	broad.mit.edu	37	3	7348185	7348185	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:7348185G>A	ENST00000357716.4	+	4	1153	c.879G>A	c.(877-879)aaG>aaA	p.K293K	GRM7_ENST00000403881.1_Splice_Site_p.K293K|GRM7_ENST00000486284.1_Splice_Site_p.K293K|GRM7_ENST00000389336.4_Splice_Site_p.K293K|GRM7_ENST00000402647.2_Splice_Site_p.K293K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	293					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTTTCCACAGGCAGATCCTTG	0.438																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.e4-1		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						78.0	85.0	83.0					3																	7348185		2203	4300	6503	SO:0001630	splice_region_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7348185G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.879-1G>A	3.37:g.7348185G>A						GRM7_ENST00000402647.2_Splice_Site_p.K293_splice|GRM7_ENST00000403881.1_Splice_Site_p.K293_splice|GRM7_ENST00000389336.4_Splice_Site_p.K293_splice|GRM7_ENST00000357716.4_Splice_Site_p.K293_splice	p.K293_splice	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			4	1153	+			293					Q8NFS2|Q8NFS3|Q8NFS4	Splice_Site	SNP	ENST00000357716.4	37	c.878_splice	CCDS43042.1																																																																																				0.438	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	Silent	28	48	0	0	0	1	0	28	48				
CHAF1A	10036	broad.mit.edu	37	19	4429437	4429437	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4429437A>G	ENST00000301280.5	+	9	1708	c.1607A>G	c.(1606-1608)gAt>gGt	p.D536G	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	536					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCAGTGATGTCGTCATC	0.572								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1606-1608)gAt>gGt	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							93.0	85.0	87.0					19																	4429437		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4429437A>G	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1607A>G	19.37:g.4429437A>G	ENSP00000301280:p.Asp536Gly						p.D536G	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1708	+		Hepatocellular(1079;0.137)	536					Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1607A>G	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296773	0.40594	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.18960	2.18	5.36	5.36	0.76844	.	.	.	.	.	T	0.29716	0.0742	M	0.66939	2.045	0.58432	D	0.999994	P	0.44044	0.825	B	0.43445	0.42	T	0.09079	-1.0691	9	0.87932	D	0	-34.6088	14.5062	0.67755	1.0:0.0:0.0:0.0	.	536	Q13111	CAF1A_HUMAN	G	536	ENSP00000301280:D536G	ENSP00000301280:D536G	D	+	2	0	CHAF1A	4380437	1.000000	0.71417	0.743000	0.31040	0.016000	0.09150	5.854000	0.69503	2.023000	0.59567	0.477000	0.44152	GAT		0.572	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		13	31	0	0	0	1	0	13	31				
THNSL1	79896	broad.mit.edu	37	10	25312394	25312394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25312394G>A	ENST00000524413.1	+	3	589	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	THNSL1_ENST00000376356.4_Missense_Mutation_p.C81Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	81						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AAACTAGGTTGTTGTGTCATA	0.388																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(241-243)tGt>tAt		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						130.0	128.0	129.0					10																	25312394		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312394G>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.242G>A	10.37:g.25312394G>A	ENSP00000434887:p.Cys81Tyr					THNSL1_ENST00000376356.4_Missense_Mutation_p.C81Y	p.C81Y			Q8IYQ7	THNS1_HUMAN			3	589	+			81					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.242G>A	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615120	0.46631	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.39787	1.06;1.06	5.86	5.86	0.93980	.	0.119454	0.64402	D	0.000017	T	0.38241	0.1033	N	0.11560	0.145	0.44214	D	0.997042	D	0.56287	0.975	P	0.51974	0.686	T	0.41627	-0.9498	10	0.87932	D	0	-8.2659	16.4339	0.83864	0.0:0.1312:0.8688:0.0	.	81	Q8IYQ7	THNS1_HUMAN	Y	81	ENSP00000434887:C81Y;ENSP00000365534:C81Y	ENSP00000365534:C81Y	C	+	2	0	THNSL1	25352400	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	4.327000	0.59247	2.768000	0.95171	0.650000	0.86243	TGT		0.388	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		32	80	0	0	0	1	0	32	80				
KIAA1683	80726	broad.mit.edu	37	19	18376213	18376213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376213G>T	ENST00000600328.3	-	3	2330	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	KIAA1683_ENST00000600359.3_Missense_Mutation_p.L667M|KIAA1683_ENST00000392413.4_Missense_Mutation_p.L713M			Q9H0B3	K1683_HUMAN	KIAA1683	713						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTTGCTCAGACAGGTGTCC	0.627																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2137-2139)Ctg>Atg		KIAA1683							64.0	63.0	63.0					19																	18376213		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18376213G>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2137C>A	19.37:g.18376213G>T	ENSP00000470780:p.Leu713Met					KIAA1683_ENST00000600359.2_Missense_Mutation_p.L667M|KIAA1683_ENST00000600328.2_Missense_Mutation_p.L713M	p.L713M	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	2352	-			713					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2137C>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	9.710	1.156903	0.21454	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000411671	T;T;T	0.04194	3.74;3.76;3.68	4.49	3.32	0.38043	.	1.345070	0.05641	N	0.583369	T	0.18002	0.0432	L	0.58101	1.795	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.68765	0.96;0.936	T	0.24154	-1.0168	10	0.34782	T	0.22	-3.6301	12.0337	0.53412	0.0:0.2235:0.7765:0.0	.	713;713	E9PDE0;Q9H0B3	.;K1683_HUMAN	M	713;713;667;327	ENSP00000376213:L713M;ENSP00000352774:L713M;ENSP00000404501:L667M	ENSP00000352774:L713M	L	-	1	2	KIAA1683	18237213	0.013000	0.17824	0.004000	0.12327	0.009000	0.06853	1.069000	0.30641	2.217000	0.71921	0.591000	0.81541	CTG		0.627	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			22	31	1	0	1.55795e-14	1	1.98882e-14	22	31				
FOXRED1	55572	broad.mit.edu	37	11	126145996	126145996	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126145996G>A	ENST00000263578.5	+	8	927	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	FOXRED1_ENST00000532125.1_Missense_Mutation_p.A271T|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Missense_Mutation_p.A115T	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	285						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TGTGGAATGCGCCATTGTGAT	0.642																																						ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(853-855)Gcc>Acc		FAD-dependent oxidoreductase domain containing 1							32.0	31.0	31.0					11																	126145996		2201	4295	6496	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126145996G>A		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.853G>A	11.37:g.126145996G>A	ENSP00000263578:p.Ala285Thr					FOXRED1_ENST00000532125.1_Missense_Mutation_p.A271T|FOXRED1_ENST00000442061.2_Missense_Mutation_p.A115T|FOXRED1_ENST00000534011.1_3'UTR	p.A285T	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	8	927	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	285					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.853G>A	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182694	0.57800	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.85013	-1.93;-1.93;-1.93	5.61	5.61	0.85477	FAD dependent oxidoreductase (1);	0.108075	0.64402	D	0.000007	D	0.90225	0.6944	M	0.80982	2.52	0.51012	D	0.999907	P;D;P	0.61080	0.945;0.989;0.955	B;P;B	0.56127	0.301;0.792;0.427	D	0.89237	0.3581	10	0.34782	T	0.22	-22.0977	15.2701	0.73693	0.0:0.0:0.8592:0.1408	.	271;152;285	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	T	285;115;271	ENSP00000263578:A285T;ENSP00000404371:A115T;ENSP00000434178:A271T	ENSP00000263578:A285T	A	+	1	0	FOXRED1	125651206	1.000000	0.71417	0.991000	0.47740	0.712000	0.41017	2.122000	0.41987	2.641000	0.89580	0.637000	0.83480	GCC		0.642	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		9	27	0	0	0	1	0	9	27				
KLHL12	59349	broad.mit.edu	37	1	202866077	202866077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202866077C>T	ENST00000367261.3	-	7	1062	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	KLHL12_ENST00000435533.3_Missense_Mutation_p.V320M|KLHL12_ENST00000367259.1_Missense_Mutation_p.V15M	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	282					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCAAAAGCACTTCATTGGCT	0.468																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(844-846)Gtg>Atg		kelch-like family member 12							149.0	156.0	153.0					1																	202866077		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202866077C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.844G>A	1.37:g.202866077C>T	ENSP00000356230:p.Val282Met					KLHL12_ENST00000367259.1_Missense_Mutation_p.V15M|KLHL12_ENST00000435533.3_Missense_Mutation_p.V320M	p.V282M	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		7	1062	-			282					A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.844G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444481	0.63178	.	.	ENSG00000117153	ENST00000367261;ENST00000367259;ENST00000435533	T;T;T	0.78481	-1.18;-1.18;-1.18	5.6	5.6	0.85130	Galactose oxidase, beta-propeller (1);	0.264328	0.35772	N	0.002998	T	0.68559	0.3014	N	0.21583	0.68	0.80722	D	1	B;B;P	0.41498	0.105;0.18;0.752	B;B;B	0.38683	0.111;0.093;0.279	T	0.67829	-0.5569	10	0.32370	T	0.25	.	19.9894	0.97361	0.0:1.0:0.0:0.0	.	320;282;15	B7Z7B8;Q53G59;Q9H7R2	.;KLH12_HUMAN;.	M	282;15;320	ENSP00000356230:V282M;ENSP00000356228:V15M;ENSP00000416886:V320M	ENSP00000356228:V15M	V	-	1	0	KLHL12	201132700	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.814000	0.86154	2.786000	0.95864	0.650000	0.86243	GTG		0.468	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		18	220	0	0	0	1	0	18	220				
DIABLO	56616	broad.mit.edu	37	12	122709222	122709222	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122709222C>T	ENST00000443649.3	-	3	868				DIABLO_ENST00000464942.2_De_novo_Start_OutOfFrame|DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000475784.1_5'Flank|DIABLO_ENST00000267169.6_De_novo_Start_OutOfFrame|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000413918.1_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCATAAGGCACGACCGCCAAT	0.458																																						ENST00000464942.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7								diablo, IAP-binding mitochondrial protein							66.0	63.0	64.0					12																	122709222		2203	4300	6503	SO:0001627	intron_variant	56616				activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	g.chr12:122709222C>T	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.51-31G>A	12.37:g.122709222C>T						DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000443649.3_Intron|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000267169.6_De_novo_Start_OutOfFrame|DIABLO_ENST00000413918.1_Intron		NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	0	1387	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Translation_Start_Site	SNP	ENST00000443649.3	37		CCDS9228.1																																																																																				0.458	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	NM_019887		13	31	0	0	0	1	0	13	31				
MPDU1	9526	broad.mit.edu	37	17	7490863	7490863	+	Silent	SNP	G	G	A	rs148905577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7490863G>A	ENST00000250124.6	+	7	954	c.738G>A	c.(736-738)gcG>gcA	p.A246A	MPDU1_ENST00000423172.2_Intron|MPDU1_ENST00000396501.4_3'UTR	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	246					dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|oligosaccharide biosynthetic process (GO:0009312)|protein folding (GO:0006457)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AGAAAAAGGCGCAGTAGAGCC	0.562																																						ENST00000250124.6																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(736-738)gcG>gcA		mannose-P-dolichol utilization defect 1		G		1,4405	2.1+/-5.4	0,1,2202	81.0	80.0	80.0		738	-1.5	0.0	17	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	MPDU1	NM_004870.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		246/248	7490863	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9526				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding	g.chr17:7490863G>A	AF038961	CCDS11115.1	17p13.1-p12	2008-07-03			ENSG00000129255	ENSG00000129255			7207	protein-coding gene	gene with protein product		604041				8663248, 9653160, 11733564	Standard	NM_004870		Approved	SL15, Lec35, PQLC5, CDGIf	uc002ghw.3	O75352	OTTHUMG00000108147	ENST00000250124.6:c.738G>A	17.37:g.7490863G>A						MPDU1_ENST00000423172.2_Intron|MPDU1_ENST00000396501.4_3'UTR	p.A246A	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN			7	954	+			246					B3KQP1|B4DT74|Q9BUU8	Silent	SNP	ENST00000250124.6	37	c.738G>A	CCDS11115.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059140	0.08339	2.27E-4	0.0	ENSG00000129255	ENST00000359822	.	.	.	4.06	-1.47	0.08772	.	0.402764	0.25119	N	0.033000	T	0.34483	0.0899	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28650	-1.0037	6	0.59425	D	0.04	-0.4541	4.4511	0.11621	0.3855:0.1585:0.456:0.0	.	.	.	.	T	246	.	ENSP00000352876:A246T	A	+	1	0	MPDU1	7431587	0.000000	0.05858	0.015000	0.15790	0.007000	0.05969	-1.104000	0.03326	-0.515000	0.06479	-2.024000	0.00429	GCA		0.562	MPDU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226950.4			18	29	0	0	0	1	0	18	29				
TRIO	7204	broad.mit.edu	37	5	14471491	14471491	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14471491A>G	ENST00000344204.4	+	38	5852	c.5828A>G	c.(5827-5829)aAc>aGc	p.N1943S	TRIO_ENST00000537187.1_Missense_Mutation_p.N1943S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1943					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTTCCTTCAACCCTTCGGAT	0.463																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(5827-5829)aAc>aGc		trio Rho guanine nucleotide exchange factor							107.0	88.0	94.0					5																	14471491		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14471491A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5828A>G	5.37:g.14471491A>G	ENSP00000339299:p.Asn1943Ser					TRIO_ENST00000537187.1_Missense_Mutation_p.N1943S	p.N1943S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			38	5852	+	Lung NSC(4;0.000742)		1943					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.5828A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481334	0.44147	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.64085	-0.08;-0.06	5.48	5.48	0.80851	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.29908	0.895	0.58432	D	0.999998	B;P	0.52842	0.302;0.956	B;D	0.65010	0.113;0.931	T	0.58808	-0.7571	10	0.07482	T	0.82	.	15.6408	0.77001	1.0:0.0:0.0:0.0	.	1943;1943	O75962-5;O75962	.;TRIO_HUMAN	S	1943;1943;1630;23	ENSP00000339299:N1943S;ENSP00000446348:N1943S	ENSP00000339299:N1943S	N	+	2	0	TRIO	14524491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.989000	0.70587	2.094000	0.63399	0.529000	0.55759	AAC		0.463	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		8	24	0	0	0	1	0	8	24				
RELT	84957	broad.mit.edu	37	11	73101671	73101671	+	Splice_Site	SNP	G	G	A	rs569625319		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73101671G>A	ENST00000064780.2	+	3	381		c.e3+1		RELT_ENST00000393580.2_Splice_Site	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCCCGACCTGGTGAGCATTGC	0.647																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.e3+1		RELT tumor necrosis factor receptor							74.0	73.0	73.0					11																	73101671		2200	4293	6493	SO:0001630	splice_region_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101671G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.120+1G>A	11.37:g.73101671G>A						RELT_ENST00000393580.2_Splice_Site		NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			3	381	+								Q86V34|Q96JU1|Q9BUX7	Splice_Site	SNP	ENST00000064780.2	37		CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310228	0.40895	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.318	0.66465	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RELT	72779319	1.000000	0.71417	0.995000	0.50966	0.401000	0.30781	5.657000	0.67996	2.505000	0.84491	0.638000	0.83543	.		0.647	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871	Intron	17	40	0	0	0	1	0	17	40				
AQP4	361	broad.mit.edu	37	18	24436384	24436384	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436384C>A	ENST00000383168.4	-	5	891	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.D233Y|AQP4_ENST00000440832.3_Missense_Mutation_p.D233Y	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	255					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AATTCAACATCTGGACAGAAG	0.458																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(763-765)Gat>Tat		aquaporin 4							135.0	127.0	130.0					18																	24436384		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436384C>A	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.763G>T	18.37:g.24436384C>A	ENSP00000372654:p.Asp255Tyr					AQP4_ENST00000440832.3_Missense_Mutation_p.D233Y|AQP4_ENST00000581374.1_Missense_Mutation_p.D233Y|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.D255Y	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	891	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		255					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.763G>T	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799663	0.70567	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.93076	-3.16	5.75	5.75	0.90469	Aquaporin-like (2);	0.194984	0.34580	N	0.003842	D	0.90587	0.7049	L	0.32530	0.975	0.80722	D	1	P	0.34934	0.476	B	0.34590	0.186	D	0.90050	0.4148	10	0.66056	D	0.02	.	19.9375	0.97146	0.0:1.0:0.0:0.0	.	255	P55087	AQP4_HUMAN	Y	255;235;151	ENSP00000372654:D255Y	ENSP00000372654:D255Y	D	-	1	0	AQP4	22690382	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.179000	0.77665	2.717000	0.92951	0.650000	0.86243	GAT		0.458	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		26	106	1	0	2.79863e-10	1	3.44159e-10	26	106				
HECTD4	283450	broad.mit.edu	37	12	112667602	112667602	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112667602C>A	ENST00000430131.2	-	40	6298	c.5153G>T	c.(5152-5154)aGg>aTg	p.R1718M	HECTD4_ENST00000377560.5_Missense_Mutation_p.R1968M|HECTD4_ENST00000550722.1_Missense_Mutation_p.R1994M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1718					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGCAAGTTTCCTGCCACTGCT	0.483																																						ENST00000550722.1																			0											c.(5980-5982)aGg>aTg		HECT domain containing E3 ubiquitin protein ligase 4							98.0	102.0	101.0					12																	112667602		1972	4145	6117	SO:0001583	missense	283450							g.chr12:112667602C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5153G>T	12.37:g.112667602C>A	ENSP00000404379:p.Arg1718Met					HECTD4_ENST00000430131.2_Missense_Mutation_p.R1718M|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1968M	p.R1994M	NM_001109662.3	NP_001103132.3					41	6376	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5981G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.335128	0.95758	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53857	0.6;0.61;0.6	5.96	5.96	0.96718	.	.	.	.	.	T	0.61924	0.2386	N	0.19112	0.55	0.58432	D	0.999994	D	0.61697	0.99	D	0.71656	0.974	T	0.65425	-0.6171	9	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1718	Q9Y4D8	K0614_HUMAN	M	1968;1718;1994	ENSP00000366783:R1968M;ENSP00000404379:R1718M;ENSP00000449784:R1994M	ENSP00000366783:R1968M	R	-	2	0	C12orf51	111151985	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	7.251000	0.78297	2.831000	0.97527	0.650000	0.86243	AGG		0.483	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		6	58	1	0	0.00116845	1	0.00124821	6	58				
COL4A1	1282	broad.mit.edu	37	13	110861234	110861234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110861234G>A	ENST00000375820.4	-	12	776	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	COL4A1_ENST00000543140.1_Nonsense_Mutation_p.Q219*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	219	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCCATTTGTCCCTGTGGA	0.388																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(655-657)Caa>Taa		collagen, type IV, alpha 1							216.0	188.0	198.0					13																	110861234		2203	4300	6503	SO:0001587	stop_gained	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110861234G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.655C>T	13.37:g.110861234G>A	ENSP00000364979:p.Gln219*					COL4A1_ENST00000543140.1_Nonsense_Mutation_p.Q219*	p.Q219*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		12	776	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	219			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	ENST00000375820.4	37	c.655C>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299121	0.81025	.	.	ENSG00000187498	ENST00000375820;ENST00000397198;ENST00000543140	.	.	.	5.72	5.72	0.89469	.	0.321655	0.29616	N	0.011646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	9.2333	0.37450	0.0815:0.1481:0.7703:0.0	.	.	.	.	X	219	.	ENSP00000364979:Q219X	Q	-	1	0	COL4A1	109659235	0.994000	0.37717	0.605000	0.28930	0.872000	0.50106	2.558000	0.45879	2.687000	0.91594	0.643000	0.83706	CAA		0.388	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			10	135	0	0	0	1	0	10	135				
SLC25A14	9016	broad.mit.edu	37	X	129499620	129499620	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129499620C>A	ENST00000218197.5	+	8	1052	c.825C>A	c.(823-825)ctC>ctA	p.L275L	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L272L|SLC25A14_ENST00000339231.3_Silent_p.L303L|SLC25A14_ENST00000543953.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	275					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATGTGGATCTCTATAAGGGCA	0.453																																						ENST00000218197.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(823-825)ctC>ctA		solute carrier family 25 (mitochondrial carrier, brain), member 14							294.0	263.0	273.0					X																	129499620		2203	4300	6503	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129499620C>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.825C>A	X.37:g.129499620C>A						SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.L303L|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L272L	p.L275L	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN			8	1052	+			275					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.825C>A	CCDS14623.1																																																																																				0.453	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		76	139	1	0	5.78891e-16	1	7.45033e-16	76	139				
GOLGB1	2804	broad.mit.edu	37	3	121415041	121415041	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121415041A>G	ENST00000340645.5	-	13	4439	c.4314T>C	c.(4312-4314)gcT>gcC	p.A1438A	GOLGB1_ENST00000393667.3_Silent_p.A1443A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1438					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGTATGCAGAGCCTTAATTA	0.388																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(4327-4329)gcT>gcC		golgin B1							137.0	139.0	138.0					3																	121415041		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415041A>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4314T>C	3.37:g.121415041A>G						GOLGB1_ENST00000340645.5_Silent_p.A1438A	p.A1443A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4439	-			1438					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.4329T>C	CCDS3004.1																																																																																				0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		56	128	0	0	0	1	0	56	128				
GRM5	2915	broad.mit.edu	37	11	88300406	88300406	+	Silent	SNP	G	G	T	rs199714294		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88300406G>T	ENST00000305447.4	-	7	2594	c.2445C>A	c.(2443-2445)ggC>ggA	p.G815G	GRM5_ENST00000305432.5_Silent_p.G815G|GRM5_ENST00000393297.1_Silent_p.G815G|GRM5_ENST00000455756.2_Silent_p.G815G|GRM5_ENST00000418177.2_Silent_p.G815G	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	815					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAAACATGCAGCCTAGGGCCA	0.522																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2443-2445)ggC>ggA		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						140.0	112.0	121.0					11																	88300406		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300406G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2445C>A	11.37:g.88300406G>T						GRM5_ENST00000305447.4_Silent_p.G815G|GRM5_ENST00000305432.5_Silent_p.G815G|GRM5_ENST00000455756.2_Silent_p.G815G|GRM5_ENST00000393297.1_Silent_p.G815G	p.G815G			P41594	GRM5_HUMAN			8	2812	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	815					Q6J164	Silent	SNP	ENST00000305447.4	37	c.2445C>A	CCDS44694.1																																																																																				0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		4	74	1	0	0.000602214	1	0.000649039	4	74				
KBTBD3	143879	broad.mit.edu	37	11	105929784	105929784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105929784C>T	ENST00000531482.2	-	1	54	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000526793.1_Missense_Mutation_p.R14Q|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R14Q			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	10										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATGTGCTTCGTTGATTGAA	0.328																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(40-42)cGa>cAa		kelch repeat and BTB (POZ) domain containing 3							58.0	57.0	57.0					11																	105929784		2199	4299	6498	SO:0001583	missense	143879							g.chr11:105929784C>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.41G>A	11.37:g.105929784C>T	ENSP00000475836:p.Arg14Gln					KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R14Q|KBTBD3_ENST00000531482.2_Missense_Mutation_p.R14Q	p.R14Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	2	200	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	10					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37	c.41G>A		.	.	.	.	.	.	.	.	.	.	C	8.786	0.929346	0.18131	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.65364	-0.15;-0.15	5.85	-0.469	0.12142	.	0.726723	0.12452	N	0.467653	T	0.36248	0.0960	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18178	-1.0345	10	0.15066	T	0.55	.	5.7184	0.17972	0.0:0.5036:0.1311:0.3653	.	14;10	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Q	14	ENSP00000436262:R14Q;ENSP00000432163:R14Q	ENSP00000436262:R14Q	R	-	2	0	KBTBD3	105434994	0.403000	0.25319	0.004000	0.12327	0.536000	0.34869	0.285000	0.18883	-0.224000	0.09928	-0.150000	0.13652	CGA		0.328	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433		9	27	0	0	0	1	0	9	27				
CASC5	57082	broad.mit.edu	37	15	40949590	40949590	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40949590G>T	ENST00000346991.5	+	25	7100	c.6710G>T	c.(6709-6711)aGa>aTa	p.R2237I	CASC5_ENST00000399668.2_Missense_Mutation_p.R2211I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2237	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CACCATTGCAGACTCCTTGGA	0.343																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(6709-6711)aGa>aTa		cancer susceptibility candidate 5							103.0	99.0	101.0					15																	40949590		1823	4092	5915	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40949590G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6710G>T	15.37:g.40949590G>T	ENSP00000335463:p.Arg2237Ile					CASC5_ENST00000399668.2_Missense_Mutation_p.R2211I	p.R2237I			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	25	7100	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2237			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6710G>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813576	0.70912	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.27890	1.64;1.64	5.77	3.85	0.44370	.	0.000000	0.56097	U	0.000023	T	0.46560	0.1399	M	0.66939	2.045	0.49483	D	0.99979	D;D	0.61080	0.989;0.989	D;D	0.63192	0.912;0.912	T	0.46541	-0.9184	10	0.87932	D	0	.	7.9085	0.29776	0.2647:0.0:0.7353:0.0	.	2211;2237	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	I	2237;2211	ENSP00000335463:R2237I;ENSP00000382576:R2211I	ENSP00000335463:R2237I	R	+	2	0	CASC5	38736882	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.210000	0.32370	1.402000	0.46780	0.650000	0.86243	AGA		0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		39	71	1	0	2.20914e-33	1	2.96736e-33	39	71				
NUCB2	4925	broad.mit.edu	37	11	17317743	17317743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17317743C>T	ENST00000529010.1	+	4	456	c.237C>T	c.(235-237)gaC>gaT	p.D79D	NUCB2_ENST00000323688.6_Silent_p.D79D|NUCB2_ENST00000458064.2_Silent_p.D79D	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	79						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAAAGCAGACATAGAGGAAA	0.308																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(235-237)gaC>gaT		nucleobindin 2							81.0	76.0	77.0					11																	17317743		1805	4068	5873	SO:0001819	synonymous_variant	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17317743C>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.237C>T	11.37:g.17317743C>T						NUCB2_ENST00000458064.2_Silent_p.D79D|NUCB2_ENST00000323688.6_Silent_p.D79D	p.D79D	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			4	456	+			79					A8K642|D3DQX5|Q8NFT5	Silent	SNP	ENST00000529010.1	37	c.237C>T	CCDS41623.1																																																																																				0.308	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		5	40	0	0	0	1	0	5	40				
ADAMTSL1	92949	broad.mit.edu	37	9	18776887	18776887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18776887C>T	ENST00000380548.4	+	19	2999	c.2660C>T	c.(2659-2661)gCc>gTc	p.A887V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	887	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGGCTTCGCCTACCTGCTC	0.677																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2659-2661)gCc>gTc		ADAMTS-like 1							16.0	21.0	20.0					9																	18776887		2044	4179	6223	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18776887C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2660C>T	9.37:g.18776887C>T	ENSP00000369921:p.Ala887Val						p.A887V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	2999	+			887			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2660C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744629	0.69418	.	.	ENSG00000178031	ENST00000380548	T	0.75821	-0.97	5.27	5.27	0.74061	Immunoglobulin-like (1);	0.054698	0.08080	U	1.000000	D	0.85500	0.5711	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.78811	-0.2057	10	0.39692	T	0.17	.	18.8963	0.92424	0.0:1.0:0.0:0.0	.	887	Q8N6G6	ATL1_HUMAN	V	887	ENSP00000369921:A887V	ENSP00000369921:A887V	A	+	2	0	ADAMTSL1	18766887	1.000000	0.71417	0.216000	0.23742	0.240000	0.25518	7.570000	0.82390	2.452000	0.82932	0.563000	0.77884	GCC		0.677	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			6	12	0	0	0	1	0	6	12				
PKD2	5311	broad.mit.edu	37	4	88957479	88957479	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88957479C>A	ENST00000237596.2	+	3	883	c.817C>A	c.(817-819)Ctg>Atg	p.L273M		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTTAAAACTCTGTCTTCCAT	0.413																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36	GRCh37	CD034173	PKD2	D		c.(817-819)Ctg>Atg		polycystic kidney disease 2 (autosomal dominant)							96.0	91.0	93.0					4																	88957479		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88957479C>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.817C>A	4.37:g.88957479C>A	ENSP00000237596:p.Leu273Met						p.L273M	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	3	883	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	273					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.817C>A	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741105	0.49151	.	.	ENSG00000118762	ENST00000237596	T	0.70399	-0.48	5.56	5.56	0.83823	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.64687	0.928	T	0.70306	-0.4908	10	0.35671	T	0.21	-15.2021	7.2584	0.26189	0.0:0.7984:0.0:0.2016	.	273	Q13563	PKD2_HUMAN	M	273	ENSP00000237596:L273M	ENSP00000237596:L273M	L	+	1	2	PKD2	89176503	0.983000	0.35010	0.360000	0.25837	0.486000	0.33341	2.448000	0.44926	2.617000	0.88574	0.655000	0.94253	CTG		0.413	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		19	49	1	0	5.35267e-07	1	6.25286e-07	19	49				
KIAA0930	23313	broad.mit.edu	37	22	45599002	45599002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45599002C>T	ENST00000336156.5	-	7	786	c.721G>A	c.(721-723)Gag>Aag	p.E241K	KIAA0930_ENST00000391627.2_Missense_Mutation_p.E207K|KIAA0930_ENST00000474515.1_5'Flank|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E246K|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E223K	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	241										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CGCACAAACTCCATGTTGCTG	0.637																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(721-723)Gag>Aag		KIAA0930							148.0	151.0	150.0					22																	45599002		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45599002C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.721G>A	22.37:g.45599002C>T	ENSP00000336720:p.Glu241Lys					KIAA0930_ENST00000391627.2_Missense_Mutation_p.E207K|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E246K|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E223K	p.E241K	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			7	786	-			241					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.721G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654623	0.96724	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.88	4.88	0.63580	.	0.048921	0.85682	N	0.000000	T	0.78387	0.4275	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.998	D;D;D;D	0.87578	0.989;0.998;0.96;0.983	T	0.81088	-0.1091	9	0.72032	D	0.01	-24.2844	18.1137	0.89543	0.0:1.0:0.0:0.0	.	223;241;246;312	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	K	241;126;246;207;223	.	ENSP00000251993:E246K	E	-	1	0	KIAA0930	43977666	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.250000	0.78287	2.280000	0.76307	0.555000	0.69702	GAG		0.637	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		8	161	0	0	0	1	0	8	161				
NUMA1	4926	broad.mit.edu	37	11	71729310	71729310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71729310G>A	ENST00000393695.3	-	12	1228	c.897C>T	c.(895-897)tgC>tgT	p.C299C	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Silent_p.C299C|NUMA1_ENST00000358965.6_Silent_p.C299C	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGGTCCTGGCACTGCTTCA	0.552			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(895-897)tgC>tgT		nuclear mitotic apparatus protein 1							103.0	92.0	95.0					11																	71729310		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729310G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.897C>T	11.37:g.71729310G>A						NUMA1_ENST00000351960.6_Silent_p.C299C|NUMA1_ENST00000358965.6_Silent_p.C299C|RP11-849H4.4_ENST00000502284.1_RNA	p.C299C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			12	1228	-			299						Silent	SNP	ENST00000393695.3	37	c.897C>T	CCDS31633.1																																																																																				0.552	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	60	0	0	0	1	0	4	60				
KIAA1109	84162	broad.mit.edu	37	4	123160873	123160873	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123160873T>C	ENST00000264501.4	+	29	4409	c.4036T>C	c.(4036-4038)Tct>Cct	p.S1346P	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1346P|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1346P			Q2LD37	K1109_HUMAN	KIAA1109	1346					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGATGTCTCTCGAAGTGA	0.433																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4036-4038)Tct>Cct		KIAA1109							112.0	108.0	109.0					4																	123160873		1962	4143	6105	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123160873T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4036T>C	4.37:g.123160873T>C	ENSP00000264501:p.Ser1346Pro					KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1346P|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1346P|KIAA1109_ENST00000495260.1_3'UTR	p.S1346P			Q2LD37	K1109_HUMAN			29	4409	+			1346					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4036T>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.03|17.03	3.285813|3.285813	0.59867|0.59867	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.32023	.|2.08;2.08;1.47	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.44902	.|U	.|0.000411	T|T	0.43523|0.43523	0.1251|0.1251	N|N	0.24115|0.24115	0.695|0.695	0.53005|0.53005	D|D	0.999968|0.999968	.|D	.|0.71674	.|0.998	.|D	.|0.75484	.|0.986	T|T	0.44236|0.44236	-0.9341|-0.9341	5|10	.|0.87932	.|D	.|0	.|.	16.4731|16.4731	0.84124|0.84124	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1346	.|Q2LD37	.|K1109_HUMAN	P|P	1177|1346	.|ENSP00000264501:S1346P;ENSP00000373390:S1346P;ENSP00000389925:S1346P	.|ENSP00000264501:S1346P	L|S	+|+	2|1	0|0	KIAA1109|KIAA1109	123380323|123380323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.576000|7.576000	0.82467|0.82467	2.293000|2.293000	0.77203|0.77203	0.528000|0.528000	0.53228|0.53228	CTC|TCT		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	74	0	0	0	1	0	5	74				
CHRNB4	1143	broad.mit.edu	37	15	78921563	78921563	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78921563G>T	ENST00000261751.3	-	5	1195	c.1084C>A	c.(1084-1086)Ccc>Acc	p.P362T	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	362					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GACTTGCTGGGCGGGAAGGCT	0.637																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(1084-1086)Ccc>Acc		cholinergic receptor, nicotinic, beta 4 (neuronal)							44.0	47.0	46.0					15																	78921563		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921563G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1084C>A	15.37:g.78921563G>T	ENSP00000261751:p.Pro362Thr					CHRNB4_ENST00000412074.2_Intron	p.P362T	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1195	-			362					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.1084C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	0.300	-0.974327	0.02215	.	.	ENSG00000117971	ENST00000261751	D	0.85629	-2.01	5.29	0.988	0.19796	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.614030	0.01812	N	0.033523	T	0.79070	0.4384	L	0.39245	1.2	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.58405	-0.7642	10	0.22706	T	0.39	.	5.999	0.19509	0.2835:0.0:0.5919:0.1246	.	362	P30926	ACHB4_HUMAN	T	362	ENSP00000261751:P362T	ENSP00000261751:P362T	P	-	1	0	CHRNB4	76708618	0.026000	0.19158	0.001000	0.08648	0.024000	0.10985	0.780000	0.26760	0.605000	0.29947	0.655000	0.94253	CCC		0.637	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			8	30	1	0	0.000442599	1	0.00048047	8	30				
FBXO24	26261	broad.mit.edu	37	7	100190525	100190525	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100190525C>A	ENST00000241071.6	+	5	1000	c.678C>A	c.(676-678)gtC>gtA	p.V226V	FBXO24_ENST00000427939.2_Silent_p.V264V|FBXO24_ENST00000468962.1_Silent_p.V214V|FBXO24_ENST00000360609.2_Silent_p.V212V|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Silent_p.V212V|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	226					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGAGGTCTATCTGCAGT	0.567																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(676-678)gtC>gtA		F-box protein 24							102.0	85.0	91.0					7																	100190525		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190525C>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.678C>A	7.37:g.100190525C>A						PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.V264V|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Silent_p.V212V|FBXO24_ENST00000465843.1_Silent_p.V212V|FBXO24_ENST00000468962.1_Silent_p.V214V	p.V226V	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			5	1000	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		226					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.678C>A	CCDS5698.1																																																																																				0.567	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			18	52	1	0	9.16793e-09	1	1.10245e-08	18	52				
KITLG	4254	broad.mit.edu	37	12	88910194	88910194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88910194C>A	ENST00000228280.5	-	5	619	c.437G>T	c.(436-438)aGa>aTa	p.R146I	KITLG_ENST00000347404.5_Missense_Mutation_p.R146I|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	146					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATCAATGGATCTATTAAAAAT	0.348									Testicular Cancer, Familial Clustering of																													ENST00000347404.5																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						c.(436-438)aGa>aTa		KIT ligand							70.0	78.0	75.0					12																	88910194		2202	4297	6499	SO:0001583	missense	4254	Testicular Cancer, Familial Clustering of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88910194C>A	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.437G>T	12.37:g.88910194C>A	ENSP00000228280:p.Arg146Ile					KITLG_ENST00000228280.5_Missense_Mutation_p.R146I|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR	p.R146I	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN			5	1009	-			146					A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.437G>T	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689301	0.48097	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.67865	-0.29;-0.29	4.96	1.13	0.20643	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.404316	0.29699	N	0.011434	T	0.62319	0.2418	L	0.50333	1.59	0.44798	D	0.997805	P;P	0.49185	0.901;0.92	B;P	0.47603	0.416;0.551	T	0.62120	-0.6921	10	0.72032	D	0.01	-5.9173	8.7105	0.34380	0.0:0.5707:0.0:0.4293	.	146;146	P21583-2;P21583	.;SCF_HUMAN	I	111;146;146	ENSP00000228280:R146I;ENSP00000054216:R146I	ENSP00000228280:R146I	R	-	2	0	KITLG	87434325	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.304000	0.19228	0.324000	0.23333	0.591000	0.81541	AGA		0.348	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		41	71	1	0	4.32679e-17	1	5.60236e-17	41	71				
ACOX2	8309	broad.mit.edu	37	3	58510329	58510329	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58510329G>T	ENST00000302819.5	-	11	1641	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	ACOX2_ENST00000481527.1_5'Flank|ACOX2_ENST00000459701.2_Missense_Mutation_p.F436L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	450					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTTCACCAGGAACCTGGGGG	0.592																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1348-1350)ttC>ttA		acyl-CoA oxidase 2, branched chain							51.0	46.0	48.0					3																	58510329		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58510329G>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1350C>A	3.37:g.58510329G>T	ENSP00000307697:p.Phe450Leu					ACOX2_ENST00000459701.2_Missense_Mutation_p.F436L	p.F450L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	11	1641	-			450					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1350C>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254416	0.59212	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.70045	-0.45;-0.45	5.4	1.7	0.24286	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.080710	0.52532	D	0.000075	T	0.65471	0.2694	M	0.84082	2.675	0.49130	D	0.999753	P	0.42785	0.79	B	0.40066	0.318	T	0.64837	-0.6313	10	0.87932	D	0	-29.4551	7.7778	0.29048	0.6417:0.0:0.3583:0.0	.	450	Q99424	ACOX2_HUMAN	L	436;450	ENSP00000418562:F436L;ENSP00000307697:F450L	ENSP00000307697:F450L	F	-	3	2	ACOX2	58485369	1.000000	0.71417	0.999000	0.59377	0.592000	0.36648	0.979000	0.29500	0.118000	0.18165	-0.385000	0.06624	TTC		0.592	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			16	19	1	0	1.5739e-10	1	1.9432e-10	16	19				
POLR3A	11128	broad.mit.edu	37	10	79753080	79753080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79753080G>T	ENST00000372371.3	-	20	2799	c.2662C>A	c.(2662-2664)Ctg>Atg	p.L888M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	888					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CGGACTGTCAGATCATACTGG	0.448																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2662-2664)Ctg>Atg		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							96.0	90.0	92.0					10																	79753080		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79753080G>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2662C>A	10.37:g.79753080G>T	ENSP00000361446:p.Leu888Met						p.L888M	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		20	2799	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		888					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.2662C>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257141	0.39896	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67698	-0.28	5.87	-8.19	0.01049	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.64402	D	0.000001	T	0.41971	0.1182	N	0.16266	0.395	0.44181	D	0.996992	B	0.26902	0.163	B	0.23419	0.046	T	0.09378	-1.0677	9	.	.	.	-16.102	17.4584	0.87613	0.4017:0.0:0.5983:0.0	.	888	O14802	RPC1_HUMAN	M	888	ENSP00000361446:L888M	.	L	-	1	2	POLR3A	79423086	0.572000	0.26668	0.061000	0.19648	0.987000	0.75469	0.372000	0.20467	-1.325000	0.02269	-0.302000	0.09304	CTG		0.448	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		7	63	1	0	1.6384e-10	1	2.02096e-10	7	63				
KIAA0922	23240	broad.mit.edu	37	4	154525057	154525057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154525057G>A	ENST00000409663.3	+	25	2942	c.2890G>A	c.(2890-2892)Gca>Aca	p.A964T	KIAA0922_ENST00000409959.3_Missense_Mutation_p.A965T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A881T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	964						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCAGAATGCTGCAAAGAGGAG	0.498																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2893-2895)Gca>Aca		KIAA0922							46.0	42.0	43.0					4																	154525057		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154525057G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2890G>A	4.37:g.154525057G>A	ENSP00000386574:p.Ala964Thr					KIAA0922_ENST00000409663.3_Missense_Mutation_p.A964T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A881T	p.A965T	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			25	2942	+	all_hematologic(180;0.093)	Renal(120;0.118)	964					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2893G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	0.248	-1.008565	0.02112	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18338	2.49;2.22;2.49;2.22	5.81	-1.16	0.09678	.	0.799384	0.12167	N	0.493455	T	0.06554	0.0168	N	0.08118	0	0.19300	N	0.999971	B;B;B	0.13594	0.006;0.008;0.005	B;B;B	0.18871	0.023;0.008;0.004	T	0.38329	-0.9666	10	0.23302	T	0.38	-2.8627	3.5339	0.07786	0.2821:0.1836:0.4411:0.0932	.	881;965;964	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	964;881;965;742	ENSP00000386574:A964T;ENSP00000409663:A881T;ENSP00000386787:A965T;ENSP00000240487:A742T	ENSP00000240487:A742T	A	+	1	0	KIAA0922	154744507	0.406000	0.25344	0.001000	0.08648	0.069000	0.16628	0.820000	0.27323	-0.381000	0.07882	-0.797000	0.03246	GCA		0.498	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		5	29	0	0	0	1	0	5	29				
FBN1	2200	broad.mit.edu	37	15	48707780	48707780	+	Silent	SNP	G	G	A	rs371285755		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48707780G>A	ENST00000316623.5	-	64	8459	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2668	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		G -> C (in MFS). {ECO:0000269|PubMed:11700157}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2668G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGTAACCGCCCTCGGTAT	0.522																																						ENST00000316623.5																			1	Substitution - coding silent(1)	p.G2668G(1)	lung(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8002-8004)ggC>ggT		fibrillin 1		G		1,4395	2.1+/-5.4	0,1,2197	86.0	76.0	79.0		8004	-11.6	0.3	15		79	0,8592		0,0,4296	no	coding-synonymous	FBN1	NM_000138.4		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		2668/2872	48707780	1,12987	2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48707780G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8004C>T	15.37:g.48707780G>A						FBN1_ENST00000561429.1_5'UTR	p.G2668G	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	64	8459	-		all_lung(180;0.00279)	2668		G -> C (in MFS).	EGF-like 47; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.8004C>T	CCDS32232.1																																																																																				0.522	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			25	53	0	0	0	1	0	25	53				
SLC35F6	54978	broad.mit.edu	37	2	27001097	27001097	+	Silent	SNP	C	C	T	rs565856734		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27001097C>T	ENST00000344420.5	+	6	896	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SLC35F6_ENST00000416475.2_Silent_p.F195F|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	278					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TCTTCAACTTCGCAGGCATCA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20545	0.0		0.0	False		,,,				2504	0.0					ENST00000344420.5																			0											c.(832-834)ttC>ttT		solute carrier family 35, member F6							116.0	91.0	99.0					2																	27001097		2203	4300	6503	SO:0001819	synonymous_variant	54978							g.chr2:27001097C>T	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.834C>T	2.37:g.27001097C>T						SLC35F6_ENST00000416475.2_Silent_p.F195F|CENPA_ENST00000475662.1_Intron	p.F278F	NM_017877.3	NP_060347.2					6	896	+								D6W543|Q53GK2|Q8NBX6|Q9NWX0	Silent	SNP	ENST00000344420.5	37	c.834C>T	CCDS1728.1																																																																																				0.612	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		22	31	0	0	0	1	0	22	31				
VWF	7450	broad.mit.edu	37	12	6091141	6091141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6091141C>A	ENST00000261405.5	-	42	7352	c.7098G>T	c.(7096-7098)gaG>gaT	p.E2366D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2366					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTTTTGCACTCCTCCTTCC	0.597																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(7096-7098)gaG>gaT		von Willebrand factor	Antihemophilic Factor(DB00025)						54.0	49.0	51.0					12																	6091141		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091141C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7098G>T	12.37:g.6091141C>A	ENSP00000261405:p.Glu2366Asp						p.E2366D	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			42	7352	-			2366					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7098G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188333	0.38609	.	.	ENSG00000110799	ENST00000261405	T	0.37915	1.17	4.83	-2.34	0.06704	.	0.000000	0.41294	D	0.000912	T	0.29491	0.0735	M	0.81239	2.535	0.80722	D	1	B	0.20887	0.049	B	0.17433	0.018	T	0.05903	-1.0857	10	0.35671	T	0.21	.	1.6066	0.02685	0.114:0.3061:0.224:0.356	.	2366	P04275	VWF_HUMAN	D	2366	ENSP00000261405:E2366D	ENSP00000261405:E2366D	E	-	3	2	VWF	5961402	0.979000	0.34478	0.919000	0.36401	0.777000	0.43975	0.106000	0.15354	-0.290000	0.09025	0.555000	0.69702	GAG		0.597	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	27	1	0	2.32078e-09	1	2.82054e-09	16	27				
CEP170	9859	broad.mit.edu	37	1	243327909	243327909	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327909T>G	ENST00000366542.1	-	13	3404	c.3353A>C	c.(3352-3354)gAt>gCt	p.D1118A	CEP170_ENST00000366544.1_Missense_Mutation_p.D1020A|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.D1020A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1118	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGTCAGCATCAGCAAGTTC	0.473																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(3352-3354)gAt>gCt		centrosomal protein 170kDa							65.0	61.0	63.0					1																	243327909		1957	4140	6097	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243327909T>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3353A>C	1.37:g.243327909T>G	ENSP00000355500:p.Asp1118Ala					CEP170_ENST00000366544.1_Missense_Mutation_p.D1020A|CEP170_ENST00000366543.1_Missense_Mutation_p.D1020A	p.D1118A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3404	-	all_neural(11;0.101)	all_cancers(173;0.003)	1118			Targeting to centrosomes.|Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3353A>C	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.39|18.39	3.614082|3.614082	0.66672|0.66672	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008|ENST00000336415	T;T;T|.	0.61274|.	0.16;0.12;0.12|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71392|0.71392	0.3334|0.3334	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.998;0.998;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.994;0.994;0.996|.	T|T	0.71676|0.71676	-0.4521|-0.4521	10|5	0.42905|.	T|.	0.14|.	-14.9033|-14.9033	13.9643|13.9643	0.64199|0.64199	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1081;1020;1020;1118|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	A|L	1118;1020;1020;79|1082	ENSP00000355500:D1118A;ENSP00000355502:D1020A;ENSP00000355501:D1020A|.	ENSP00000355500:D1118A|.	D|M	-|-	2|1	0|0	CEP170|CEP170	241394532|241394532	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	7.443000|7.443000	0.80521|0.80521	1.879000|1.879000	0.54435|0.54435	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.473	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		7	44	0	0	0	1	0	7	44				
CD180	4064	broad.mit.edu	37	5	66481846	66481846	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66481846C>A	ENST00000256447.4	-	2	248		c.e2-1			NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule						B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGGCTTCTTTctgatgggaga	0.313																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.e2-1		CD180 molecule							63.0	67.0	65.0					5																	66481846		2201	4298	6499	SO:0001630	splice_region_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66481846C>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.91-1G>T	5.37:g.66481846C>A								NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	2	248	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)						B2R7Z7|Q32MM5	Splice_Site	SNP	ENST00000256447.4	37		CCDS3992.1																																																																																				0.313	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	Intron	26	43	1	0	3.01185e-09	1	3.6461e-09	26	43				
USP34	9736	broad.mit.edu	37	2	61441712	61441712	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441712A>G	ENST00000398571.2	-	68	8241	c.8165T>C	c.(8164-8166)gTa>gCa	p.V2722A	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2722					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTAGGACTACTGTTGTGTC	0.478																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8164-8166)gTa>gCa		ubiquitin specific peptidase 34							106.0	105.0	105.0					2																	61441712		2004	4177	6181	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61441712A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8165T>C	2.37:g.61441712A>G	ENSP00000381577:p.Val2722Ala					USP34_ENST00000472689.1_Intron	p.V2722A	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8241	-			2722					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8165T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	9.955	1.221183	0.22457	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.34275	1.37	5.87	5.87	0.94306	Armadillo-type fold (1);	0.055752	0.64402	D	0.000001	T	0.18841	0.0452	N	0.03608	-0.345	0.50632	D	0.999882	B	0.25667	0.131	B	0.17098	0.017	T	0.10660	-1.0620	10	0.25106	T	0.35	.	16.2806	0.82678	1.0:0.0:0.0:0.0	.	2722	Q70CQ2	UBP34_HUMAN	A	2570;2570;2722	ENSP00000381577:V2722A	ENSP00000263989:V2570A	V	-	2	0	USP34	61295216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.087000	0.71362	2.248000	0.74166	0.533000	0.62120	GTA		0.478	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			38	48	0	0	0	1	0	38	48				
MOCS2	4338	broad.mit.edu	37	5	52397956	52397956	+	Missense_Mutation	SNP	G	G	A	rs371082200		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397956G>A	ENST00000396954.3	-	4	874	c.197C>T	c.(196-198)cCg>cTg	p.P66L	MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000450852.3_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ACCACAGAGCGGAGAAATCAC	0.358																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(196-198)cCg>cTg		molybdenum cofactor synthesis 2		G	,LEU/PRO	0,4406		0,0,2203	99.0	93.0	95.0		,197	6.0	1.0	5		95	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense	MOCS2	NM_176806.2,NM_004531.3	,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,66/189	52397956	1,13005	2203	4300	6503	SO:0001583	missense	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52397956G>A	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.197C>T	5.37:g.52397956G>A	ENSP00000380157:p.Pro66Leu					MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000584946.1_Intron	p.P66L	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			4	874	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Missense_Mutation	SNP	ENST00000396954.3	37	c.197C>T	CCDS3958.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846947	0.71603	0.0	1.16E-4	ENSG00000164172	ENST00000396954;ENST00000527216	T	0.24723	1.84	6.03	6.03	0.97812	.	0.169599	0.53938	D	0.000056	T	0.42154	0.1190	M	0.88241	2.94	0.80722	D	1	B	0.29481	0.245	B	0.27715	0.082	T	0.41520	-0.9504	10	0.52906	T	0.07	-11.0041	20.5752	0.99366	0.0:0.0:1.0:0.0	.	66	O96007	MOC2B_HUMAN	L	66	ENSP00000380157:P66L	ENSP00000380157:P66L	P	-	2	0	MOCS2	52433713	1.000000	0.71417	0.983000	0.44433	0.958000	0.62258	7.528000	0.81941	2.868000	0.98415	0.557000	0.71058	CCG		0.358	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		6	27	0	0	0	1	0	6	27				
RSPRY1	89970	broad.mit.edu	37	16	57247814	57247814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57247814G>T	ENST00000537866.1	+	6	1531	c.658G>T	c.(658-660)Ggt>Tgt	p.G220C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G220C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	220						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGCAAGTATAGGTTTACTTAG	0.338																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(658-660)Ggt>Tgt		ring finger and SPRY domain containing 1							179.0	175.0	176.0					16																	57247814		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57247814G>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.658G>T	16.37:g.57247814G>T	ENSP00000443176:p.Gly220Cys					RSPRY1_ENST00000394420.4_Missense_Mutation_p.G220C	p.G220C			Q96DX4	RSPRY_HUMAN			6	1531	+			220					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.658G>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791267	0.50102	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.64991	-0.13;-0.13	5.67	4.51	0.55191	.	0.261401	0.44688	D	0.000427	T	0.52757	0.1754	L	0.40543	1.245	0.46437	D	0.999048	P	0.36027	0.533	B	0.39185	0.293	T	0.56956	-0.7893	10	0.72032	D	0.01	.	8.2024	0.31432	0.1065:0.0:0.7444:0.1492	.	220	Q96DX4	RSPRY_HUMAN	C	220	ENSP00000377942:G220C;ENSP00000443176:G220C	ENSP00000377942:G220C	G	+	1	0	RSPRY1	55805315	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.753000	0.55180	2.836000	0.97738	0.655000	0.94253	GGT		0.338	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		12	105	1	0	7.93312e-07	1	9.21973e-07	12	105				
GPR158	57512	broad.mit.edu	37	10	25510037	25510037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25510037G>T	ENST00000376351.3	+	2	1318	c.959G>T	c.(958-960)aGt>aTt	p.S320I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	320					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAATGCTCAAGTGATGGCTGG	0.343																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(958-960)aGt>aTt		G protein-coupled receptor 158							107.0	110.0	109.0					10																	25510037		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25510037G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.959G>T	10.37:g.25510037G>T	ENSP00000365529:p.Ser320Ile						p.S320I	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			2	1318	+			320					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.959G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083665	0.55861	.	.	ENSG00000151025	ENST00000376351	T	0.61627	0.09	5.37	2.47	0.30058	.	0.130143	0.47455	D	0.000230	T	0.55878	0.1948	M	0.64404	1.975	0.35305	D	0.783364	B	0.28933	0.228	B	0.40228	0.323	T	0.60224	-0.7305	10	0.66056	D	0.02	.	4.6797	0.12729	0.3149:0.152:0.533:0.0	.	320	Q5T848	GP158_HUMAN	I	320	ENSP00000365529:S320I	ENSP00000365529:S320I	S	+	2	0	GPR158	25550043	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.196000	0.32198	0.240000	0.21263	0.563000	0.77884	AGT		0.343	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	56	1	0	5.18039e-06	1	5.91835e-06	7	56				
C3	718	broad.mit.edu	37	19	6718263	6718263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6718263G>A	ENST00000245907.6	-	3	520	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	143					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCACCTGTGGAGCCAGGGGT	0.642																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(427-429)tCc>tTc		complement component 3							52.0	44.0	47.0					19																	6718263		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718263G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.428C>T	19.37:g.6718263G>A	ENSP00000245907:p.Ser143Phe						p.S143F	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	520	-			143					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.428C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.695895	0.68386	.	.	ENSG00000125730	ENST00000245907	T	0.74315	-0.83	4.91	3.84	0.44239	Alpha-2-macroglobulin, N-terminal (1);	0.390610	0.28393	N	0.015503	D	0.88081	0.6341	M	0.91300	3.195	0.35928	D	0.832332	D	0.71674	0.998	D	0.74348	0.983	D	0.92849	0.6295	10	0.87932	D	0	.	13.904	0.63823	0.0:0.1544:0.8456:0.0	.	143	P01024	CO3_HUMAN	F	143	ENSP00000245907:S143F	ENSP00000245907:S143F	S	-	2	0	C3	6669263	0.934000	0.31675	0.921000	0.36526	0.857000	0.48899	1.522000	0.35921	1.019000	0.39547	0.454000	0.30748	TCC		0.642	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	19	0	0	0	1	0	5	19				
DBF4	10926	broad.mit.edu	37	7	87536622	87536622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536622C>T	ENST00000265728.1	+	12	1673	c.1169C>T	c.(1168-1170)aCa>aTa	p.T390I		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	390					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GAAGATGATACAACAGTGAAG	0.403																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(1168-1170)aCa>aTa		DBF4 homolog (S. cerevisiae)							94.0	102.0	99.0					7																	87536622		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536622C>T	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1169C>T	7.37:g.87536622C>T	ENSP00000265728:p.Thr390Ile						p.T390I	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			12	1673	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	390					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1169C>T	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.529157	0.00147	.	.	ENSG00000006634	ENST00000265728	T	0.32272	1.46	5.51	0.984	0.19773	.	0.816271	0.10811	N	0.631570	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31530	-0.9940	10	0.15952	T	0.53	-0.1249	0.6814	0.00875	0.1704:0.281:0.28:0.2686	.	166;390	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	I	390	ENSP00000265728:T390I	ENSP00000265728:T390I	T	+	2	0	DBF4	87374558	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.073000	0.14640	0.312000	0.23038	-0.254000	0.11334	ACA		0.403	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		15	143	0	0	0	1	0	15	143				
C11orf16	56673	broad.mit.edu	37	11	8942885	8942885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8942885T>C	ENST00000326053.5	-	6	1488	c.1382A>G	c.(1381-1383)cAg>cGg	p.Q461R	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	461										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTGTTCCACTGACATATTGC	0.532																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1381-1383)cAg>cGg		chromosome 11 open reading frame 16							130.0	126.0	128.0					11																	8942885		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8942885T>C	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1382A>G	11.37:g.8942885T>C	ENSP00000318999:p.Gln461Arg					C11orf16_ENST00000525780.1_Intron	p.Q461R	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1488	-			461					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.1382A>G	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521114	0.44866	.	.	ENSG00000176029	ENST00000326053	T	0.30981	1.51	4.21	0.593	0.17478	.	1.014050	0.07924	N	0.976361	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27739	-1.0065	10	0.41790	T	0.15	-9.4639	6.2011	0.20577	0.0:0.0897:0.3054:0.6049	.	461	Q9NQ32	CK016_HUMAN	R	461	ENSP00000318999:Q461R	ENSP00000318999:Q461R	Q	-	2	0	C11orf16	8899461	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.492000	0.22435	-0.150000	0.11195	-1.333000	0.01266	CAG		0.532	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		43	57	0	0	0	1	0	43	57				
ITPR2	3709	broad.mit.edu	37	12	26580872	26580872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26580872T>C	ENST00000381340.3	-	49	7335	c.6919A>G	c.(6919-6921)Aca>Gca	p.T2307A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2307					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTATTAATGTAGGCCCAAGA	0.333																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6919-6921)Aca>Gca		inositol 1,4,5-trisphosphate receptor, type 2							90.0	82.0	85.0					12																	26580872		1819	4087	5906	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26580872T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6919A>G	12.37:g.26580872T>C	ENSP00000370744:p.Thr2307Ala						p.T2307A	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			49	7335	-	Colorectal(261;0.0847)		2307					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6919A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402020	0.42613	.	.	ENSG00000123104	ENST00000381340	D	0.92099	-2.97	4.33	4.33	0.51752	.	0.063541	0.64402	D	0.000005	D	0.91106	0.7200	M	0.73217	2.22	0.80722	D	1	B	0.14438	0.01	B	0.25405	0.06	D	0.89056	0.3459	10	0.45353	T	0.12	.	13.6682	0.62409	0.0:0.0:0.0:1.0	.	2307	Q14571	ITPR2_HUMAN	A	2307	ENSP00000370744:T2307A	ENSP00000370744:T2307A	T	-	1	0	ITPR2	26472139	1.000000	0.71417	0.953000	0.39169	0.932000	0.56968	3.375000	0.52410	1.826000	0.53198	0.482000	0.46254	ACA		0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	33	0	0	0	1	0	18	33				
PCK1	5105	broad.mit.edu	37	20	56140474	56140474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56140474G>A	ENST00000319441.4	+	10	1647	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.A178T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	495					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAAATACCTGGCCCACTGGCT	0.512																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1483-1485)Gcc>Acc		phosphoenolpyruvate carboxykinase 1 (soluble)							77.0	76.0	77.0					20																	56140474		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56140474G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1483G>A	20.37:g.56140474G>A	ENSP00000319814:p.Ala495Thr					PCK1_ENST00000543666.1_Missense_Mutation_p.A178T|PCK1_ENST00000535860.1_3'UTR	p.A495T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		10	1647	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		495					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1483G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396699	0.42512	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.09817	2.94;2.94	5.55	4.6	0.57074	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.048036	0.85682	D	0.000000	T	0.08670	0.0215	L	0.37466	1.105	0.80722	D	1	B;B	0.21753	0.041;0.06	B;B	0.16289	0.01;0.015	T	0.21109	-1.0255	10	0.22109	T	0.4	-31.0528	9.9431	0.41591	0.0717:0.0:0.7898:0.1384	.	178;495	B4DT64;P35558	.;PCKGC_HUMAN	T	177;495;178	ENSP00000319814:A495T;ENSP00000445767:A178T	ENSP00000319814:A495T	A	+	1	0	PCK1	55573880	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	4.201000	0.58439	1.342000	0.45619	0.561000	0.74099	GCC		0.512	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			29	29	0	0	0	1	0	29	29				
MUC7	4589	broad.mit.edu	37	4	71339760	71339760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71339760G>A	ENST00000304887.5	+	2	212	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	MUC7_ENST00000456088.1_Missense_Mutation_p.V8M|MUC7_ENST00000413702.1_Missense_Mutation_p.V8M|MUC7_ENST00000514512.1_Intron	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	8					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCCGCTGTTTGTGTGCATCTG	0.398																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(22-24)Gtg>Atg		mucin 7, secreted							137.0	133.0	134.0					4																	71339760		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71339760G>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.22G>A	4.37:g.71339760G>A	ENSP00000302021:p.Val8Met					MUC7_ENST00000514512.1_Intron|MUC7_ENST00000304887.5_Missense_Mutation_p.V8M|MUC7_ENST00000456088.1_Missense_Mutation_p.V8M	p.V8M	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	310	+			8					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.22G>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472414	0.26423	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.55760	0.51;0.5;0.51;0.51	3.93	0.0488	0.14286	.	.	.	.	.	T	0.37376	0.1001	N	0.19112	0.55	0.09310	N	1	D	0.54207	0.965	P	0.49953	0.627	T	0.15954	-1.0419	8	.	.	.	-1.5337	1.344	0.02160	0.1974:0.1672:0.4636:0.1717	.	8	Q8TAX7	MUC7_HUMAN	M	8	ENSP00000407422:V8M;ENSP00000427594:V8M;ENSP00000400585:V8M;ENSP00000302021:V8M	.	V	+	1	0	MUC7	71374349	0.000000	0.05858	0.004000	0.12327	0.756000	0.42949	-0.842000	0.04354	-0.032000	0.13758	0.563000	0.77884	GTG		0.398	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		21	81	0	0	0	1	0	21	81				
DNM2	1785	broad.mit.edu	37	19	10906768	10906768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10906768G>A	ENST00000355667.6	+	10	1308	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	DNM2_ENST00000408974.4_Intron|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.E410K|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000359692.6_Missense_Mutation_p.E410K	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	410					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.E410K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTGGCATTCGAGGCCATTGT	0.512			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000359692.6				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		1	Substitution - Missense(1)	p.E410K(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1228-1230)Gag>Aag		dynamin 2							141.0	135.0	137.0					19																	10906768		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10906768G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1228G>A	19.37:g.10906768G>A	ENSP00000347890:p.Glu410Lys					DNM2_ENST00000408974.4_Intron|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.E410K|DNM2_ENST00000355667.6_Missense_Mutation_p.E410K	p.E410K	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		10	1378	+			410					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1228G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435774	0.96168	.	.	ENSG00000079805	ENST00000355667;ENST00000359692	T;T	0.76709	-1.04;-1.04	4.7	4.7	0.59300	Dynamin central domain (1);	.	.	.	.	D	0.92057	0.7483	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;0.966;0.996	D;P;P	0.87578	0.998;0.771;0.905	D	0.94865	0.8025	9	0.87932	D	0	.	16.4349	0.83872	0.0:0.0:1.0:0.0	.	4;410;410	Q8N1K8;P50570-2;P50570	.;.;DYN2_HUMAN	K	410	ENSP00000347890:E410K;ENSP00000352721:E410K	ENSP00000347890:E410K	E	+	1	0	DNM2	10767768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.174000	0.68829	0.561000	0.74099	GAG		0.512	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		14	140	0	0	0	1	0	14	140				
PIWIL3	440822	broad.mit.edu	37	22	25147375	25147375	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25147375G>T	ENST00000332271.5	-	9	1484	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	PIWIL3_ENST00000533313.1_Silent_p.T247T|PIWIL3_ENST00000527701.1_Silent_p.T247T|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	356	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTCTATATAGGTGATTTTGC	0.313																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1066-1068)acC>acA		piwi-like RNA-mediated gene silencing 3							277.0	270.0	272.0					22																	25147375		2202	4300	6502	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25147375G>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1068C>A	22.37:g.25147375G>T						PIWIL3_ENST00000533313.1_Silent_p.T247T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.T247T	p.T356T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			9	1484	-			356			PAZ.			Silent	SNP	ENST00000332271.5	37	c.1068C>A	CCDS33623.1																																																																																				0.313	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		14	204	1	0	2.61681e-11	1	3.25769e-11	14	204				
CR2	1380	broad.mit.edu	37	1	207643049	207643049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207643049G>A	ENST00000367058.3	+	6	1016	c.827G>A	c.(826-828)tGc>tAc	p.C276Y	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.C276Y|CR2_ENST00000458541.2_Missense_Mutation_p.C276Y|CR2_ENST00000367057.3_Missense_Mutation_p.C276Y	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	276	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAATTTTTTGCCCATCACCT	0.428																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(826-828)tGc>tAc		complement component (3d/Epstein Barr virus) receptor 2							82.0	80.0	80.0					1																	207643049		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643049G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.827G>A	1.37:g.207643049G>A	ENSP00000356025:p.Cys276Tyr					CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.C276Y|CR2_ENST00000367058.3_Missense_Mutation_p.C276Y|CR2_ENST00000458541.2_Missense_Mutation_p.C276Y	p.C276Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1016	+			276			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.827G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295164	0.60086	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74	5.05	5.05	0.67936	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99891	0.9948	H	0.99435	4.565	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96361	0.9266	9	0.87932	D	0	.	14.7047	0.69179	0.0:0.0:1.0:0.0	.	276;276;276	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	276	ENSP00000356025:C276Y;ENSP00000356024:C276Y;ENSP00000356026:C276Y;ENSP00000404222:C276Y	ENSP00000356024:C276Y	C	+	2	0	CR2	205709672	0.994000	0.37717	0.999000	0.59377	0.680000	0.39746	4.781000	0.62389	2.752000	0.94435	0.556000	0.70494	TGC		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		13	75	0	0	0	1	0	13	75				
C12orf74	338809	broad.mit.edu	37	12	93100751	93100751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93100751C>T	ENST00000397833.3	+	2	795	c.344C>T	c.(343-345)gCc>gTc	p.A115V	C12orf74_ENST00000544406.2_Missense_Mutation_p.A115V	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	115										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTGAAAGGGCCCTGAATGCA	0.547																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(343-345)gCc>gTc		chromosome 12 open reading frame 74							66.0	72.0	70.0					12																	93100751		1951	4158	6109	SO:0001583	missense	338809							g.chr12:93100751C>T	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.344C>T	12.37:g.93100751C>T	ENSP00000380933:p.Ala115Val					C12orf74_ENST00000397833.3_Missense_Mutation_p.A115V	p.A115V			Q32Q52	CL074_HUMAN			2	610	+			115					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.344C>T	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369173	0.24771	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.73	-0.812	0.10853	.	.	.	.	.	T	0.21468	0.0517	L	0.27053	0.805	0.09310	N	1	B;B	0.17852	0.024;0.024	B;B	0.19148	0.024;0.013	T	0.29882	-0.9997	8	0.07482	T	0.82	.	4.1109	0.10058	0.153:0.467:0.0:0.38	.	115;115	F5H4P0;Q32Q52	.;CL074_HUMAN	V	115	.	ENSP00000380933:A115V	A	+	2	0	C12orf74	91624882	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.138000	0.16016	-0.228000	0.09869	-0.666000	0.03841	GCC		0.547	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		23	48	0	0	0	1	0	23	48				
NBPF15	284565	broad.mit.edu	37	1	148594505	148594505	+	Missense_Mutation	SNP	G	G	T	rs372777254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148594505G>T	ENST00000369187.3	+	19	2367	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	NBPF15_ENST00000442702.2_Missense_Mutation_p.Q626H	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	626	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					ACTCATTCCAGCACTACAGAA	0.448																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1876-1878)caG>caT		neuroblastoma breakpoint family, member 15							225.0	295.0	271.0					1																	148594505		2155	4295	6450	SO:0001583	missense	284565					cytoplasm		g.chr1:148594505G>T	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1878G>T	1.37:g.148594505G>T	ENSP00000358188:p.Gln626His					NBPF15_ENST00000369187.3_Missense_Mutation_p.Q626H	p.Q626H	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2945	+	all_hematologic(923;0.032)		626			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1878G>T	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	8.392	0.840065	0.16891	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.11495	2.77;2.77	0.502	-1.0	0.10196	DUF1220 (2);	.	.	.	.	T	0.14570	0.0352	M	0.77486	2.375	0.09310	N	1	D	0.71674	0.998	D	0.85130	0.997	T	0.04203	-1.0969	8	0.72032	D	0.01	.	.	.	.	.	626	Q8N660	NBPFF_HUMAN	H	626	ENSP00000416864:Q626H;ENSP00000358188:Q626H	ENSP00000358188:Q626H	Q	+	3	2	NBPF15	146861129	0.154000	0.22792	0.000000	0.03702	0.001000	0.01503	0.894000	0.28350	-0.348000	0.08286	-0.561000	0.04177	CAG		0.448	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		171	293	1	0	2.65309e-104	1	3.59382e-104	171	293				
ROS1	6098	broad.mit.edu	37	6	117681540	117681540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117681540C>T	ENST00000368508.3	-	22	3608	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	ROS1_ENST00000368507.3_Missense_Mutation_p.G1132E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1137	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCATATGGTCCTGGCCCCTT	0.398			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3409-3411)gGa>gAa		c-ros oncogene 1 , receptor tyrosine kinase							84.0	79.0	81.0					6																	117681540		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117681540C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3410G>A	6.37:g.117681540C>T	ENSP00000357494:p.Gly1137Glu					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1132E	p.G1137E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	22	3608	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1137			Fibronectin type-III 5.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3410G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174640	0.78452	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.63255	-0.03;-0.03	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000012	T	0.79644	0.4481	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.83304	-0.0026	10	0.87932	D	0	.	17.9557	0.89068	0.0:1.0:0.0:0.0	.	1137	P08922	ROS1_HUMAN	E	1137;1132	ENSP00000357494:G1137E;ENSP00000357493:G1132E	ENSP00000357493:G1132E	G	-	2	0	ROS1	117788233	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	4.913000	0.63341	2.545000	0.85829	0.655000	0.94253	GGA		0.398	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	47	0	0	0	1	0	4	47				
NPSR1	387129	broad.mit.edu	37	7	34698114	34698114	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34698114G>T	ENST00000360581.1	+	1	218	c.90G>T	c.(88-90)gtG>gtT	p.V30V	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000531252.1_Silent_p.V30V|NPSR1_ENST00000381553.3_Silent_p.V30V|NPSR1_ENST00000465305.1_Silent_p.V30V|NPSR1_ENST00000381539.3_Silent_p.V30V|NPSR1_ENST00000359791.1_Silent_p.V30V|NPSR1_ENST00000381542.1_Silent_p.V30V|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	30						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGAAACAGTGACTTTTACTG	0.507																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(88-90)gtG>gtT		neuropeptide S receptor 1	Halothane(DB01159)						115.0	109.0	111.0					7																	34698114		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34698114G>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.90G>T	7.37:g.34698114G>T						NPSR1_ENST00000381542.1_Silent_p.V30V|NPSR1_ENST00000381553.3_Silent_p.V30V|NPSR1_ENST00000465305.1_Silent_p.V30V|NPSR1_ENST00000531252.1_Silent_p.V30V|NPSR1_ENST00000381539.3_Silent_p.V30V|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000359791.1_Silent_p.V30V|AC005493.1_ENST00000399077.1_Intron	p.V30V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			1	218	+			30					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.90G>T	CCDS5444.1																																																																																				0.507	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		6	80	1	0	0.0215528	1	0.0221649	6	80				
PARP2	10038	broad.mit.edu	37	14	20824784	20824784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20824784G>T	ENST00000250416.5	+	13	1331	c.1304G>T	c.(1303-1305)tGg>tTg	p.W435L	PARP2_ENST00000429687.3_Missense_Mutation_p.W422L|PARP2_ENST00000527915.1_Missense_Mutation_p.W435L	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	435	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATGAGTAACTGGGTGGGAATC	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1303-1305)tGg>tTg	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							277.0	264.0	268.0					14																	20824784		1923	4134	6057	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20824784G>T	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1304G>T	14.37:g.20824784G>T	ENSP00000250416:p.Trp435Leu					PARP2_ENST00000429687.3_Missense_Mutation_p.W422L|PARP2_ENST00000250416.5_Missense_Mutation_p.W435L	p.W435L			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	13	1309	+	all_cancers(95;0.00092)	all_lung(585;0.235)	435			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1304G>T	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551432	0.86127	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.12147	2.71;2.71;2.71	5.43	5.43	0.79202	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	L	0.60067	1.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.98;1.0	T	0.00695	-1.1606	10	0.21014	T	0.42	-8.8191	18.1605	0.89706	0.0:0.0:1.0:0.0	.	348;422;435	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	L	422;435;435	ENSP00000392972:W422L;ENSP00000250416:W435L;ENSP00000432283:W435L	ENSP00000250416:W435L	W	+	2	0	PARP2	19894624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.674000	0.61612	2.825000	0.97269	0.655000	0.94253	TGG		0.468	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			15	226	1	0	1.15088e-07	1	1.35723e-07	15	226				
USP9X	8239	broad.mit.edu	37	X	41048719	41048719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048719G>A	ENST00000324545.8	+	26	4601	c.3968G>A	c.(3967-3969)tGt>tAt	p.C1323Y	USP9X_ENST00000378308.2_Missense_Mutation_p.C1323Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1323					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTATTGCACTGTCACAGCAAG	0.338																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3967-3969)tGt>tAt		ubiquitin specific peptidase 9, X-linked							107.0	94.0	98.0					X																	41048719		2189	4299	6488	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41048719G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3968G>A	X.37:g.41048719G>A	ENSP00000316357:p.Cys1323Tyr					USP9X_ENST00000378308.2_Missense_Mutation_p.C1323Y	p.C1323Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			26	4601	+			1323					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.3968G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152227	0.78001	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.65916	-0.18;-0.18	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	M	0.61703	1.905	0.80722	D	1	D;D	0.63880	0.991;0.993	P;P	0.61201	0.885;0.675	T	0.77109	-0.2709	10	0.56958	D	0.05	.	18.7352	0.91751	0.0:0.0:1.0:0.0	.	1323;1323	Q93008-1;Q93008	.;USP9X_HUMAN	Y	1323	ENSP00000367558:C1323Y;ENSP00000316357:C1323Y	ENSP00000316357:C1323Y	C	+	2	0	USP9X	40933663	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.444000	0.97578	2.370000	0.80446	0.415000	0.27848	TGT		0.338	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		22	40	0	0	0	1	0	22	40				
CBLL1	79872	broad.mit.edu	37	7	107399540	107399540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399540C>T	ENST00000440859.3	+	6	1860	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	CBLL1_ENST00000222597.2_Nonsense_Mutation_p.R464*	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	465	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCACCTCCACGATTGCAGGG	0.488																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1393-1395)Cga>Tga		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							141.0	146.0	144.0					7																	107399540		2203	4300	6503	SO:0001587	stop_gained	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399540C>T	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1393C>T	7.37:g.107399540C>T	ENSP00000401277:p.Arg465*					CBLL1_ENST00000222597.2_Nonsense_Mutation_p.R464*	p.R465*	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1860	+			465			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Nonsense_Mutation	SNP	ENST00000440859.3	37	c.1393C>T	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	c	19.80	3.894053	0.72639	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000417616	.	.	.	5.15	3.05	0.35203	.	0.138312	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.4142	11.0365	0.47804	0.1267:0.6246:0.2487:0.0	.	.	.	.	X	465;344;464;256	.	ENSP00000222597:R464X	R	+	1	2	CBLL1	107186776	0.980000	0.34600	1.000000	0.80357	0.967000	0.64934	0.717000	0.25851	1.130000	0.42092	0.441000	0.28932	CGA		0.488	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		13	119	0	0	0	1	0	13	119				
PRRC2A	7916	broad.mit.edu	37	6	31595899	31595899	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31595899G>A	ENST00000376033.2	+	12	1882	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A550T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	550	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGAAGAGCCAGCACAGGCCCC	0.612																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1648-1650)Gca>Aca		proline-rich coiled-coil 2A							111.0	96.0	101.0					6																	31595899		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595899G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1648G>A	6.37:g.31595899G>A	ENSP00000365201:p.Ala550Thr					PRRC2A_ENST00000376007.4_Missense_Mutation_p.A550T	p.A550T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			12	1882	+			550			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1648G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352734	0.24512	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.08102	3.13;3.13	4.62	2.83	0.33086	.	0.124013	0.36740	N	0.002433	T	0.02047	0.0064	N	0.22421	0.69	0.31858	N	0.621354	B	0.02656	0.0	B	0.04013	0.001	T	0.36480	-0.9746	10	0.87932	D	0	-2.6134	8.757	0.34652	0.1813:0.0:0.8187:0.0	.	550	P48634	PRC2A_HUMAN	T	550;539;550;550	ENSP00000365175:A550T;ENSP00000365201:A550T	ENSP00000365175:A550T	A	+	1	0	PRRC2A	31703878	0.997000	0.39634	0.998000	0.56505	0.760000	0.43138	1.757000	0.38400	0.680000	0.31366	0.561000	0.74099	GCA		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		31	30	0	0	0	1	0	31	30				
PGAP1	80055	broad.mit.edu	37	2	197708653	197708653	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197708653T>C	ENST00000354764.4	-	25	2598	c.2484A>G	c.(2482-2484)ttA>ttG	p.L828L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	828					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCATGCTGAGTAATACAATCC	0.348																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(2482-2484)ttA>ttG		post-GPI attachment to proteins 1							123.0	115.0	118.0					2																	197708653		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197708653T>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2484A>G	2.37:g.197708653T>C							p.L828L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			25	2598	-			828					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.2484A>G	CCDS2318.1																																																																																				0.348	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		3	53	0	0	0	1	0	3	53				
CUBN	8029	broad.mit.edu	37	10	17147575	17147575	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17147575C>A	ENST00000377833.4	-	11	1177		c.e11-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAAGGAACCTGTTCAGAAA	0.453																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.e11-1		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						80.0	70.0	73.0					10																	17147575		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17147575C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1112-1G>T	10.37:g.17147575C>A								NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			11	1177	-								B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	ENST00000377833.4	37		CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175726	0.78564	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2155	0.93776	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17187581	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.291000	0.51764	2.636000	0.89361	0.655000	0.94253	.		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Intron	9	18	1	0	2.17888e-05	1	2.45068e-05	9	18				
FAM216A	29902	broad.mit.edu	37	12	110927873	110927873	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110927873A>C	ENST00000377673.5	+	7	1265	c.753A>C	c.(751-753)gaA>gaC	p.E251D		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	251																	AAAAGGAAGAAGATTTACTAA	0.318																																						ENST00000377673.5																			0											c.(751-753)gaA>gaC		family with sequence similarity 216, member A							73.0	76.0	75.0					12																	110927873		2203	4300	6503	SO:0001583	missense	29902							g.chr12:110927873A>C	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.753A>C	12.37:g.110927873A>C	ENSP00000366901:p.Glu251Asp						p.E251D	NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN			7	1265	+			251					A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	c.753A>C	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470816	0.43942	.	.	ENSG00000204856	ENST00000377673;ENST00000546396;ENST00000547539	T	0.51325	0.71	4.95	-0.409	0.12378	.	0.335297	0.21785	N	0.069145	T	0.21801	0.0525	N	0.12182	0.205	0.27514	N	0.951616	B	0.19935	0.04	B	0.17433	0.018	T	0.07214	-1.0784	10	0.49607	T	0.09	-4.6733	1.7468	0.02963	0.4024:0.3384:0.0957:0.1635	.	251	Q8WUB2	CL024_HUMAN	D	251;60;20	ENSP00000366901:E251D	ENSP00000366901:E251D	E	+	3	2	C12orf24	109412256	0.972000	0.33761	0.996000	0.52242	0.993000	0.82548	-0.213000	0.09305	-0.209000	0.10156	0.455000	0.32223	GAA		0.318	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		9	75	0	0	0	1	0	9	75				
ARID4B	51742	broad.mit.edu	37	1	235383757	235383757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235383757C>T	ENST00000264183.3	-	15	1764	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I	ARID4B_ENST00000366603.2_Missense_Mutation_p.V423I|ARID4B_ENST00000349213.3_Missense_Mutation_p.V423I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	423	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTTCTTTTACATTTTCACAC	0.343																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1267-1269)Gta>Ata		AT rich interactive domain 4B (RBP1-like)							119.0	109.0	113.0					1																	235383757		2203	4296	6499	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235383757C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1267G>A	1.37:g.235383757C>T	ENSP00000264183:p.Val423Ile					ARID4B_ENST00000366603.2_Missense_Mutation_p.V423I|ARID4B_ENST00000349213.3_Missense_Mutation_p.V423I	p.V423I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		15	1764	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	423			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1267G>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444692	0.25987	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.21543	2.01;2.02;2.02;2.0	5.05	4.13	0.48395	.	0.729004	0.13663	N	0.371456	T	0.13628	0.0330	N	0.19112	0.55	0.21762	N	0.999554	P;B;B;B	0.36837	0.571;0.001;0.001;0.0	B;B;B;B	0.30495	0.116;0.002;0.001;0.0	T	0.10064	-1.0646	10	0.34782	T	0.22	-3.8747	13.8549	0.63519	0.0:0.9255:0.0:0.0745	.	104;423;423;423	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	I	423	ENSP00000264184:V423I;ENSP00000355562:V423I;ENSP00000264183:V423I;ENSP00000391497:V423I	ENSP00000264183:V423I	V	-	1	0	ARID4B	233450380	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.409000	0.59768	1.248000	0.43934	0.591000	0.81541	GTA		0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		6	55	0	0	0	1	0	6	55				
ANGPT4	51378	broad.mit.edu	37	20	896548	896548	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896548C>T	ENST00000381922.3	-	1	412		c.e1+1		ANGPT4_ENST00000546022.1_Splice_Site	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ATGCCCCGTACCTTCTTCAGC	0.597																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.e1+1		angiopoietin 4							114.0	91.0	98.0					20																	896548		2203	4300	6503	SO:0001630	splice_region_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896548C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.309+1G>A	20.37:g.896548C>T						ANGPT4_ENST00000546022.1_Splice_Site		NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			1	412	-								B4E3J9|Q5TFF4|Q9H4Z4	Splice_Site	SNP	ENST00000381922.3	37		CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174289	0.21704	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6216	0.56605	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANGPT4	844548	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.906000	0.69900	2.351000	0.79841	0.484000	0.47621	.		0.597	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	Intron	48	49	0	0	0	1	0	48	49				
MAEA	10296	broad.mit.edu	37	4	1316186	1316186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1316186G>A	ENST00000303400.4	+	4	537	c.474G>A	c.(472-474)gaG>gaA	p.E158E	MAEA_ENST00000452175.2_Silent_p.E79E|MAEA_ENST00000505177.2_Silent_p.E158E|MAEA_ENST00000510794.1_Silent_p.E157E|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000505839.1_Silent_p.E110E	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	158					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	TGAATATTGAGATGTTCCTGA	0.597																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(472-474)gaG>gaA		macrophage erythroblast attacher							109.0	114.0	112.0					4																	1316186		2203	4300	6503	SO:0001819	synonymous_variant	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1316186G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.474G>A	4.37:g.1316186G>A						MAEA_ENST00000510794.1_Silent_p.E157E|MAEA_ENST00000505177.2_Silent_p.E158E|MAEA_ENST00000505839.1_Silent_p.E110E|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Silent_p.E79E|MAEA_ENST00000264750.6_Intron	p.E158E	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		4	537	+			158					O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Silent	SNP	ENST00000303400.4	37	c.474G>A	CCDS33936.1																																																																																				0.597	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		51	83	0	0	0	1	0	51	83				
TOP2A	7153	broad.mit.edu	37	17	38546236	38546236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38546236G>A	ENST00000423485.1	-	34	4606	c.4448C>T	c.(4447-4449)tCg>tTg	p.S1483L	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1483					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GACTGCTTTCGAAACAATTTT	0.418																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(4447-4449)tCg>tTg		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						61.0	59.0	59.0					17																	38546236		1910	4120	6030	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38546236G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4448C>T	17.37:g.38546236G>A	ENSP00000411532:p.Ser1483Leu						p.S1483L	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		34	4606	-		Breast(137;0.00328)	1483					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.4448C>T	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624627	0.46840	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.55930	0.49	5.49	4.51	0.55191	DTHCT (1);	0.180161	0.50627	D	0.000102	T	0.47358	0.1441	L	0.60455	1.87	0.23168	N	0.998187	B	0.28026	0.198	B	0.25884	0.064	T	0.43343	-0.9397	10	0.42905	T	0.14	.	12.0204	0.53340	0.0811:0.0:0.9189:0.0	.	1483	P11388	TOP2A_HUMAN	L	1483;1563;1506;1520	ENSP00000411532:S1483L	ENSP00000269577:S1563L	S	-	2	0	TOP2A	35799762	0.617000	0.27043	0.731000	0.30826	0.874000	0.50279	2.641000	0.46587	2.722000	0.93159	0.591000	0.81541	TCG		0.418	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			11	12	0	0	0	1	0	11	12				
GLUD1	2746	broad.mit.edu	37	10	88811627	88811627	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88811627G>A	ENST00000277865.4	-	13	1654	c.1558C>T	c.(1558-1560)Caa>Taa	p.Q520*	GLUD1_ENST00000537649.1_Splice_Site_p.Q353*|GLUD1_ENST00000544149.1_Splice_Site_p.Q387*	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	520					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CGCATAATTTGCTGAAATGAA	0.458																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.e13-1		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						144.0	128.0	134.0					10																	88811627		2203	4300	6503	SO:0001630	splice_region_variant	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88811627G>A	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1558-1C>T	10.37:g.88811627G>A						GLUD1_ENST00000537649.1_Splice_Site_p.Q353_splice|GLUD1_ENST00000544149.1_Splice_Site_p.Q387_splice	p.Q520_splice	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			13	1654	-			520					B3KV55|B4DGN5|Q5TBU3	Splice_Site	SNP	ENST00000277865.4	37	c.1557_splice	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	37	6.160920	0.97338	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	.	.	.	5.05	5.05	0.67936	.	0.111810	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	18.7792	0.91925	0.0:0.0:1.0:0.0	.	.	.	.	X	520;477;353;219;452;387	.	ENSP00000277865:Q520X	Q	-	1	0	GLUD1	88801607	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.822000	0.99363	2.536000	0.85505	0.555000	0.69702	CAA		0.458	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271	Nonsense_Mutation	4	76	0	0	0	1	0	4	76				
ZNF536	9745	broad.mit.edu	37	19	31040234	31040234	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:31040234G>T	ENST00000355537.3	+	4	3855	c.3708G>T	c.(3706-3708)caG>caT	p.Q1236H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1236					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.Q1236H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACAGCCAGGGTCTTCTCC	0.672																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.Q1236H(1)	lung(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3706-3708)caG>caT		zinc finger protein 536							26.0	26.0	26.0					19																	31040234		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040234G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3708G>T	19.37:g.31040234G>T	ENSP00000347730:p.Gln1236His						p.Q1236H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3855	+	Esophageal squamous(110;0.0834)		1236					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3708G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	8.445	0.851658	0.17034	.	.	ENSG00000198597	ENST00000355537	T	0.08807	3.05	4.96	-9.0	0.00747	.	0.339090	0.32258	N	0.006360	T	0.02649	0.0080	N	0.14661	0.345	0.19575	N	0.999966	B;B	0.29805	0.257;0.257	B;B	0.27170	0.077;0.077	T	0.18335	-1.0340	10	0.46703	T	0.11	-19.0218	2.8586	0.05579	0.3635:0.3153:0.2302:0.0911	.	1236;1236	A7E228;O15090	.;ZN536_HUMAN	H	1236	ENSP00000347730:Q1236H	ENSP00000347730:Q1236H	Q	+	3	2	ZNF536	35732074	0.993000	0.37304	0.197000	0.23402	0.046000	0.14306	0.291000	0.18994	-1.415000	0.02022	-0.859000	0.03014	CAG		0.672	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	24	1	0	1.26484e-09	1	1.54084e-09	6	24				
NCOR1	9611	broad.mit.edu	37	17	15973653	15973653	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15973653G>T	ENST00000268712.3	-	31	4596	c.4339C>A	c.(4339-4341)Cgg>Agg	p.R1447R	NCOR1_ENST00000395857.3_Silent_p.R31R|NCOR1_ENST00000395851.1_Silent_p.R1463R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1447	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGTGCCGGGAACGCACG	0.532																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4339-4341)Cgg>Agg		nuclear receptor corepressor 1							211.0	187.0	195.0					17																	15973653		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15973653G>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4339C>A	17.37:g.15973653G>T						NCOR1_ENST00000395851.1_Silent_p.R1463R|NCOR1_ENST00000395857.3_Silent_p.R31R	p.R1447R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	31	4596	-			1447			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.4339C>A	CCDS11175.1																																																																																				0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		46	69	1	0	8.01111e-26	1	1.06612e-25	46	69				
TENM2	57451	broad.mit.edu	37	5	167674983	167674983	+	Missense_Mutation	SNP	T	T	C	rs568128834		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167674983T>C	ENST00000518659.1	+	27	7078	c.7039T>C	c.(7039-7041)Tac>Cac	p.Y2347H	TENM2_ENST00000520394.1_Missense_Mutation_p.Y2108H|TENM2_ENST00000545108.1_Missense_Mutation_p.Y2346H|TENM2_ENST00000519204.1_Missense_Mutation_p.Y2226H|TENM2_ENST00000403607.2_Missense_Mutation_p.Y2171H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2347					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TACCTCACTGTACTACGACCT	0.552													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19984	0.0		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(6676-6678)Tac>Cac		teneurin transmembrane protein 2							112.0	116.0	114.0					5																	167674983		2064	4223	6287	SO:0001583	missense	57451							g.chr5:167674983T>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7039T>C	5.37:g.167674983T>C	ENSP00000429430:p.Tyr2347His					TENM2_ENST00000520394.1_Missense_Mutation_p.Y2108H|TENM2_ENST00000403607.2_Missense_Mutation_p.Y2171H|TENM2_ENST00000518659.1_Missense_Mutation_p.Y2347H|TENM2_ENST00000545108.1_Missense_Mutation_p.Y2346H	p.Y2226H							26	6794	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6676T>C		.	.	.	.	.	.	.	.	.	.	t	18.96	3.734510	0.69189	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89875	-2.1;-2.09;-2.21;-2.57;-2.58	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.93520	0.7932	M	0.67953	2.075	0.50171	D	0.999854	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	D	0.93836	0.7132	10	0.56958	D	0.05	.	15.4838	0.75548	0.0:0.0:0.0:1.0	.	2346;2347;2108	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	2347;2346;2226;2108;2171	ENSP00000429430:Y2347H;ENSP00000438635:Y2346H;ENSP00000428964:Y2226H;ENSP00000427874:Y2108H;ENSP00000384905:Y2171H	ENSP00000384905:Y2171H	Y	+	1	0	ODZ2	167607561	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.037000	0.88933	2.064000	0.61679	0.454000	0.30748	TAC		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		24	51	0	0	0	1	0	24	51				
SKAP1	8631	broad.mit.edu	37	17	46262119	46262119	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46262119A>C	ENST00000336915.6	-	7	602	c.533T>G	c.(532-534)tTt>tGt	p.F178C	SKAP1_ENST00000584924.1_Missense_Mutation_p.F178C|RP11-456D7.1_ENST00000582246.1_RNA	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	178	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGTCAGTTCAAAGCAGGATTC	0.522																																						ENST00000336915.6																			0				large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(532-534)tTt>tGt		src kinase associated phosphoprotein 1							192.0	175.0	181.0					17																	46262119		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46262119A>C	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.533T>G	17.37:g.46262119A>C	ENSP00000338171:p.Phe178Cys					SKAP1_ENST00000584924.1_Missense_Mutation_p.F178C	p.F178C	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN			7	602	-			178			PH.		D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.533T>G	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.075076	0.36566	.	.	ENSG00000141293	ENST00000336915	T	0.39787	1.06	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	H	0.94771	3.58	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82410	-0.0471	10	0.87932	D	0	-22.2533	15.3583	0.74448	1.0:0.0:0.0:0.0	.	178;178	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	C	178	ENSP00000338171:F178C	ENSP00000338171:F178C	F	-	2	0	SKAP1	43617118	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.706000	0.84615	2.111000	0.64477	0.455000	0.32223	TTT		0.522	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		60	96	0	0	0	1	0	60	96				
NOTCH1	4851	broad.mit.edu	37	9	139413915	139413915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139413915C>T	ENST00000277541.6	-	5	920	c.845G>A	c.(844-846)cGc>cAc	p.R282H	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	282	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			R -> P (in Ref. 1; AAG33848 and 3; AAA60614). {ECO:0000305}.	anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCGGGCAGCGGCAGTTGTA	0.607			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(844-846)cGc>cAc		notch 1							56.0	73.0	67.0					9																	139413915		1959	4146	6105	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413915C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.845G>A	9.37:g.139413915C>T	ENSP00000277541:p.Arg282His	HNSCC(8;0.001)					p.R282H	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	5	920	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	282	R -> P (in Ref. 1; AAG33848 and 3; AAA60614).		EGF-like 7; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.845G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719013	0.68844	.	.	ENSG00000148400	ENST00000277541	D	0.91686	-2.89	5.22	5.22	0.72569	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.063203	0.64402	D	0.000004	D	0.82513	0.5053	N	0.05592	-0.015	0.49389	D	0.999784	B	0.18968	0.032	B	0.21708	0.036	T	0.78150	-0.2316	10	0.42905	T	0.14	.	9.8189	0.40869	0.0:0.9058:0.0:0.0942	.	282	P46531	NOTC1_HUMAN	H	282	ENSP00000277541:R282H	ENSP00000277541:R282H	R	-	2	0	NOTCH1	138533736	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.864000	0.62990	2.438000	0.82558	0.561000	0.74099	CGC		0.607	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		25	44	0	0	0	1	0	25	44				
PDE3A	5139	broad.mit.edu	37	12	20803455	20803455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:20803455C>A	ENST00000359062.3	+	14	2886	c.2846C>A	c.(2845-2847)gCt>gAt	p.A949D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	949	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATAAAGTTGGCTGATATCAAT	0.333																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2845-2847)gCt>gAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						160.0	153.0	156.0					12																	20803455		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20803455C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2846C>A	12.37:g.20803455C>A	ENSP00000351957:p.Ala949Asp					PDE3A_ENST00000544307.1_3'UTR	p.A949D	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			14	2886	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	949			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2846C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014572	0.93404	.	.	ENSG00000172572	ENST00000359062	D	0.86497	-2.13	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96349	0.8809	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97337	0.9954	10	0.87932	D	0	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	949	Q14432	PDE3A_HUMAN	D	949	ENSP00000351957:A949D	ENSP00000351957:A949D	A	+	2	0	PDE3A	20694722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.707000	0.92482	0.561000	0.74099	GCT		0.333	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			34	52	1	0	1.836e-18	1	2.39396e-18	34	52				
ULBP2	80328	broad.mit.edu	37	6	150267536	150267536	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150267536T>C	ENST00000367351.3	+	3	451	c.378T>C	c.(376-378)tcT>tcC	p.S126S		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	126	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAAGGATGTCTTGTGAGCAGA	0.498																																						ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(376-378)tcT>tcC		UL16 binding protein 2							108.0	105.0	106.0					6																	150267536		2203	4297	6500	SO:0001819	synonymous_variant	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267536T>C	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.378T>C	6.37:g.150267536T>C							p.S126S	NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	451	+		Ovarian(120;0.0907)	126			MHC class I alpha-2 like.		Q5VUN4	Silent	SNP	ENST00000367351.3	37	c.378T>C	CCDS5222.1																																																																																				0.498	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			10	92	0	0	0	1	0	10	92				
NFRKB	4798	broad.mit.edu	37	11	129739838	129739838	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129739838A>G	ENST00000446488.3	-	23	3185	c.3082T>C	c.(3082-3084)Tca>Cca	p.S1028P	NFRKB_ENST00000524746.1_Missense_Mutation_p.S1028P|NFRKB_ENST00000524794.1_Missense_Mutation_p.S1053P|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1028P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1028					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCACTGGCTGAACTGGCCTTG	0.537																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(3082-3084)Tca>Cca		nuclear factor related to kappaB binding protein							174.0	137.0	149.0					11																	129739838		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129739838A>G		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3082T>C	11.37:g.129739838A>G	ENSP00000400476:p.Ser1028Pro					NFRKB_ENST00000524794.1_Missense_Mutation_p.S1053P|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1028P|NFRKB_ENST00000524746.1_Missense_Mutation_p.S1028P	p.S1028P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	23	3185	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	1028					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.3082T>C	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909364	0.33721	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.03	2.59	0.31030	.	0.307617	0.31636	N	0.007307	T	0.27731	0.0682	N	0.24115	0.695	0.31646	N	0.647385	B;B;B	0.18166	0.026;0.0;0.0	B;B;B	0.14023	0.01;0.001;0.001	T	0.16689	-1.0394	9	0.26408	T	0.33	-0.8937	5.4508	0.16565	0.512:0.2766:0.0:0.2113	.	1028;1027;1053	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	P	1028;1028;1053;1028	.	ENSP00000303800:S1028P	S	-	1	0	NFRKB	129245048	0.440000	0.25618	0.377000	0.26055	0.980000	0.70556	0.148000	0.16224	0.224000	0.20940	0.533000	0.62120	TCA		0.537	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		13	51	0	0	0	1	0	13	51				
CDC14B	8555	broad.mit.edu	37	9	99272007	99272007	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99272007C>A	ENST00000375241.1	-	13	1859	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C	CDC14B_ENST00000375242.3_Missense_Mutation_p.G433C|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375240.3_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	470					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTAGTAATGCCTGCACTGCCA	0.358																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(1408-1410)Ggc>Tgc		cell division cycle 14B							127.0	119.0	122.0					9																	99272007		2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99272007C>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1408G>T	9.37:g.99272007C>A	ENSP00000364389:p.Gly470Cys					CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375242.3_Missense_Mutation_p.G433C|CDC14B_ENST00000375240.3_Intron	p.G470C	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			13	1859	-		Acute lymphoblastic leukemia(62;0.0559)	470					A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.1408G>T	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149601	0.57151	.	.	ENSG00000081377	ENST00000375241;ENST00000375242	D;D	0.91894	-2.93;-2.92	5.2	5.2	0.72013	.	0.675694	0.15267	N	0.271462	D	0.87442	0.6178	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.996;0.999	P;P	0.55785	0.749;0.784	D	0.85483	0.1180	10	0.54805	T	0.06	-7.4394	6.8957	0.24255	0.159:0.7171:0.0:0.124	.	470;433	O60729;A8MQ20	CC14B_HUMAN;.	C	470;433	ENSP00000364389:G470C;ENSP00000364390:G433C	ENSP00000364389:G470C	G	-	1	0	CDC14B	98311828	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.610000	0.46325	2.708000	0.92522	0.555000	0.69702	GGC		0.358	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		5	113	1	0	0.184627	1	0.186383	5	113				
HAX1	10456	broad.mit.edu	37	1	154245846	154245846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154245846G>T	ENST00000328703.7	+	2	301	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	HAX1_ENST00000483970.2_Missense_Mutation_p.D30Y|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	30	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGACTCGAGATGAAGATGA	0.493									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(88-90)Gat>Tat		HCLS1 associated protein X-1							64.0	64.0	64.0					1																	154245846		2203	4300	6503	SO:0001583	missense	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245846G>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.88G>T	1.37:g.154245846G>T	ENSP00000329002:p.Asp30Tyr					HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.D30Y	p.D30Y	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	301	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		30			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.88G>T	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126438	0.77549	.	.	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.46063	0.88;0.88;0.88	5.58	4.67	0.58626	.	0.118789	0.56097	D	0.000031	T	0.52869	0.1761	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.961	T	0.60332	-0.7284	10	0.87932	D	0	-11.3483	11.8078	0.52165	0.0826:0.0:0.9174:0.0	.	30;30	O00165-2;O00165	.;HAX1_HUMAN	Y	30	ENSP00000329002:D30Y;ENSP00000435088:D30Y;ENSP00000394920:D30Y	ENSP00000329002:D30Y	D	+	1	0	HAX1	152512470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.600000	0.74132	1.489000	0.48450	0.655000	0.94253	GAT		0.493	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		29	65	1	0	2.08973e-25	1	2.77883e-25	29	65				
COL11A2	1302	broad.mit.edu	37	6	33146457	33146457	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33146457C>A	ENST00000374708.4	-	16	1718	c.1460G>T	c.(1459-1461)aGg>aTg	p.R487M	COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000341947.2_Splice_Site_p.R573M|COL11A2_ENST00000357486.1_Splice_Site_p.R552M|COL11A2_ENST00000374712.1_Splice_Site_p.R492M|COL11A2_ENST00000374713.1_Splice_Site_p.R526M|COL11A2_ENST00000374714.1_Splice_Site_p.R547M|COL11A2_ENST00000395197.1_Splice_Site_p.R513M|COL11A2_ENST00000361917.1_Splice_Site_p.R466M	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	573	Collagen-like 2.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTACTCACCCTATGGCCCTT	0.557																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.e18+1		collagen, type XI, alpha 2							285.0	246.0	260.0					6																	33146457		1511	2709	4220	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33146457C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1461+1G>T	6.37:g.33146457C>A						COL11A2_ENST00000374714.1_Splice_Site_p.R547_splice|COL11A2_ENST00000374712.1_Splice_Site_p.R492_splice|COL11A2_ENST00000357486.1_Splice_Site_p.R552_splice|COL11A2_ENST00000374713.1_Splice_Site_p.R526_splice|COL11A2_ENST00000395197.1_Splice_Site_p.R513_splice|COL11A2_ENST00000374708.4_Splice_Site_p.R487_splice|COL11A2_ENST00000361917.1_Splice_Site_p.R466_splice	p.R573_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			18	1945	-			573			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Splice_Site	SNP	ENST00000374708.4	37	c.1719_splice	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854525	0.51376	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	4.16	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.60904	1.88	0.54753	D	0.999986	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.91635	0.994;0.992;0.999	T	0.06552	-1.0820	10	0.87932	D	0	.	11.3119	0.49368	0.0:0.8137:0.1863:0.0	.	466;487;573	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	M	487;573;552;547;526;513;492;466;573	ENSP00000363840:R487M;ENSP00000339915:R573M;ENSP00000350079:R552M;ENSP00000363846:R547M;ENSP00000363845:R526M;ENSP00000378623:R513M;ENSP00000363844:R492M;ENSP00000355123:R466M;ENSP00000405520:R573M	ENSP00000339915:R573M	R	-	2	0	COL11A2	33254435	0.999000	0.42202	0.998000	0.56505	0.340000	0.28889	3.416000	0.52707	0.910000	0.36722	0.448000	0.29417	AGG		0.557	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Missense_Mutation	13	179	1	0	0.000151284	1	0.000166931	13	179				
KLK5	25818	broad.mit.edu	37	19	51452340	51452340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51452340G>T	ENST00000336334.3	-	4	719	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.L123M|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.L123M	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACTGGTGACAGGGAGTAGTGG	0.562																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(367-369)Ctg>Atg		kallikrein-related peptidase 5							89.0	92.0	91.0					19																	51452340		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452340G>T	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.367C>A	19.37:g.51452340G>T	ENSP00000337733:p.Leu123Met					KLK5_ENST00000593428.1_Missense_Mutation_p.L123M|KLK5_ENST00000391809.2_Missense_Mutation_p.L123M	p.L123M	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	4	719	-		all_neural(266;0.026)	123			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.367C>A	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.072863	0.36566	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.94417	-3.42;-3.42	4.06	-1.16	0.09678	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.306795	0.17782	N	0.162206	D	0.93772	0.8009	M	0.81614	2.55	0.09310	N	1	P	0.48998	0.918	P	0.51193	0.662	D	0.86941	0.2079	10	0.45353	T	0.12	.	3.9633	0.09420	0.2238:0.0:0.4658:0.3104	.	123	Q9Y337	KLK5_HUMAN	M	123	ENSP00000337733:L123M;ENSP00000375685:L123M	ENSP00000337733:L123M	L	-	1	2	KLK5	56144152	0.125000	0.22332	0.000000	0.03702	0.113000	0.19764	0.629000	0.24538	-0.081000	0.12662	0.563000	0.77884	CTG		0.562	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		22	76	1	0	5.35356e-11	1	6.64197e-11	22	76				
GTF3C1	2975	broad.mit.edu	37	16	27544670	27544670	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544670A>C	ENST00000356183.4	-	5	806	c.791T>G	c.(790-792)gTc>gGc	p.V264G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(790-792)gTc>gGc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							145.0	121.0	129.0					16																	27544670		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27544670A>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.791T>G	16.37:g.27544670A>C	ENSP00000348510:p.Val264Gly					GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264G	p.V264G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			5	806	-			264					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.791T>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	0.184	-1.059839	0.01950	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.21361	2.01	5.96	-11.9	0.00025	.	1.695590	0.02579	N	0.098692	T	0.06781	0.0173	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10382	-1.0632	10	0.11182	T	0.66	-5.97	8.849	0.35188	0.1543:0.4243:0.3569:0.0645	.	264;264	Q12789;Q12789-3	TF3C1_HUMAN;.	G	264;262	ENSP00000348510:V264G	ENSP00000348510:V264G	V	-	2	0	GTF3C1	27452171	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.881000	0.04179	-3.097000	0.00245	-1.981000	0.00455	GTC		0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		11	63	0	0	0	1	0	11	63				
GSE1	23199	broad.mit.edu	37	16	85688435	85688435	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85688435G>T	ENST00000253458.7	+	5	811	c.635G>T	c.(634-636)aGt>aTt	p.S212I	GSE1_ENST00000393243.1_Missense_Mutation_p.S139I|GSE1_ENST00000405402.2_Missense_Mutation_p.S108I	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	212																	GTGCCCCCCAGTACCGTGACC	0.682																																						ENST00000253458.7																			0											c.(634-636)aGt>aTt		Gse1 coiled-coil protein							79.0	60.0	67.0					16																	85688435		2190	4290	6480	SO:0001583	missense	23199							g.chr16:85688435G>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.635G>T	16.37:g.85688435G>T	ENSP00000253458:p.Ser212Ile					GSE1_ENST00000393243.1_Missense_Mutation_p.S139I|GSE1_ENST00000405402.2_Missense_Mutation_p.S108I	p.S212I	NM_014615.2	NP_055430.1					5	811	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.635G>T	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.19|15.19	2.759836|2.759836	0.49468|0.49468	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000411612;ENST00000253458;ENST00000393243|ENST00000412692	T;T;T|.	0.37915|.	1.19;1.18;1.17|.	4.79|4.79	1.67|1.67	0.24075|0.24075	.|.	0.131610|.	0.64402|.	D|.	0.000001|.	T|T	0.57621|0.57621	0.2066|0.2066	L|L	0.57536|0.57536	1.79|1.79	0.42714|0.42714	D|D	0.99365|0.99365	B;B|.	0.19583|.	0.037;0.022|.	B;B|.	0.15484|.	0.013;0.006|.	T|T	0.50659|0.50659	-0.8802|-0.8802	10|5	0.87932|.	D|.	0|.	-11.0942|-11.0942	7.2973|7.2973	0.26401|0.26401	0.1479:0.0:0.715:0.1371|0.1479:0.0:0.715:0.1371	.|.	139;212|.	Q14687-3;Q14687|.	.;GSE1_HUMAN|.	I|L	108;108;212;139|19	ENSP00000384839:S108I;ENSP00000253458:S212I;ENSP00000376934:S139I|.	ENSP00000253458:S212I|.	S|V	+|+	2|1	0|0	KIAA0182|KIAA0182	84245936|84245936	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.706000|0.706000	0.40770|0.40770	5.577000|5.577000	0.67444|0.67444	0.167000|0.167000	0.19631|0.19631	0.555000|0.555000	0.69702|0.69702	AGT|GTA		0.682	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		8	10	1	0	0.00621372	1	0.00652201	8	10				
DSG4	147409	broad.mit.edu	37	18	28993015	28993015	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28993015T>G	ENST00000308128.4	+	16	2715	c.2580T>G	c.(2578-2580)gcT>gcG	p.A860A	DSG4_ENST00000359747.4_Silent_p.A879A|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	860					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACACCAGGCTTGTATACCAA	0.388																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2635-2637)gcT>gcG		desmoglein 4							157.0	145.0	149.0					18																	28993015		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993015T>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2580T>G	18.37:g.28993015T>G						RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.A860A|RP11-534N16.1_ENST00000578477.1_RNA	p.A879A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2666	+			860					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.2637T>G	CCDS11897.1																																																																																				0.388	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		27	111	0	0	0	1	0	27	111				
ZFAND2B	130617	broad.mit.edu	37	2	220073159	220073159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220073159G>A	ENST00000289528.5	+	6	734	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	ZFAND2B_ENST00000444522.2_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409206.1_3'UTR	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	180						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAACCCGATCTCCGTCC	0.562																																						ENST00000409097.1																			0				endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11						c.(538-540)cGa>cAa		zinc finger, AN1-type domain 2B							132.0	121.0	124.0					2																	220073159		2203	4300	6503	SO:0001583	missense	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220073159G>A	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.539G>A	2.37:g.220073159G>A	ENSP00000289528:p.Arg180Gln					ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.R180Q	p.R180Q			Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	596	+		Renal(207;0.0915)	180					Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	c.539G>A	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	G	0.252	-1.006138	0.02112	.	.	ENSG00000158552	ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T	0.44083	0.95;0.94;0.93;0.95;0.96;0.93	5.11	1.34	0.21922	.	1.233240	0.05526	N	0.563125	T	0.17492	0.0420	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.22208	-1.0223	10	0.08599	T	0.76	-23.6954	4.1709	0.10329	0.6428:0.1747:0.1825:0.0	.	71;180;180	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	Q	180	ENSP00000289528:R180Q;ENSP00000409931:R180Q;ENSP00000387179:R180Q;ENSP00000386898:R180Q;ENSP00000386370:R180Q;ENSP00000411334:R180Q	ENSP00000289528:R180Q	R	+	2	0	ZFAND2B	219781403	0.139000	0.22563	0.222000	0.23844	0.276000	0.26787	0.340000	0.19892	0.081000	0.16988	-1.004000	0.02495	CGA		0.562	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		20	54	0	0	0	1	0	20	54				
MACF1	23499	broad.mit.edu	37	1	39893657	39893657	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39893657C>A	ENST00000372915.3	+	61	16578				MACF1_ENST00000567887.1_Missense_Mutation_p.H5538N|MACF1_ENST00000361689.2_Missense_Mutation_p.H3439N|MACF1_ENST00000317713.7_Missense_Mutation_p.H3439N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.H5501N|MACF1_ENST00000289893.4_Missense_Mutation_p.H3941N|MACF1_ENST00000545844.1_Missense_Mutation_p.H3439N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATAGAAAACCATGCAACAGA	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16501-16503)Cat>Aat		microtubule-actin crosslinking factor 1							61.0	58.0	59.0					1																	39893657		2203	4300	6503	SO:0001627	intron_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39893657C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+371C>A	1.37:g.39893657C>A						MACF1_ENST00000545844.1_Missense_Mutation_p.H3439N|MACF1_ENST00000289893.4_Missense_Mutation_p.H3941N|MACF1_ENST00000567887.1_Missense_Mutation_p.H5538N|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Missense_Mutation_p.H3439N|MACF1_ENST00000361689.2_Missense_Mutation_p.H3439N|MACF1_ENST00000539005.1_Intron	p.H5501N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		63	17278	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5506					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16501C>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.951753	0.73787	.	.	ENSG00000127603	ENST00000545844;ENST00000361689;ENST00000317713;ENST00000289893;ENST00000482035	T;T;T;T;T	0.53857	1.21;1.21;1.21;1.21;0.6	5.94	5.94	0.96194	.	0.253658	0.27294	N	0.020025	T	0.68604	0.3019	L	0.50333	1.59	0.80722	D	1	D;P	0.67145	0.996;0.837	D;P	0.64410	0.925;0.71	T	0.68352	-0.5431	10	0.72032	D	0.01	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	3439;3383	F8W8Q1;Q9UPN3-3	.;.	N	3439;3439;3439;3941;255	ENSP00000439537:H3439N;ENSP00000354573:H3439N;ENSP00000313438:H3439N;ENSP00000289893:H3941N;ENSP00000433104:H255N	ENSP00000289893:H3941N	H	+	1	0	MACF1	39666244	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.625000	0.83145	2.812000	0.96745	0.557000	0.71058	CAT		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	24	1	0	0.248553	1	0.25002	4	24				
TINAG	27283	broad.mit.edu	37	6	54208113	54208113	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208113A>C	ENST00000259782.4	+	5	810	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	238					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGATCAAAAAAATTGTGCTG	0.388																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(712-714)aaA>aaC		tubulointerstitial nephritis antigen							91.0	91.0	91.0					6																	54208113		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54208113A>C	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.714A>C	6.37:g.54208113A>C	ENSP00000259782:p.Lys238Asn						p.K238N	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		5	810	+	Lung NSC(77;0.0518)		238					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.714A>C	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684934	0.68157	.	.	ENSG00000137251	ENST00000259782	D	0.84442	-1.85	5.81	3.36	0.38483	Peptidase C1A, papain C-terminal (2);	0.156466	0.45606	D	0.000359	D	0.82944	0.5147	L	0.39514	1.22	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.83631	0.0145	10	0.62326	D	0.03	.	9.6204	0.39719	0.855:0.0:0.145:0.0	.	238	Q9UJW2	TINAG_HUMAN	N	238	ENSP00000259782:K238N	ENSP00000259782:K238N	K	+	3	2	TINAG	54316072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.000000	0.29770	0.521000	0.28445	0.533000	0.62120	AAA		0.388	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		26	43	0	0	0	1	0	26	43				
PNPLA7	375775	broad.mit.edu	37	9	140355145	140355145	+	Missense_Mutation	SNP	C	C	T	rs534765274	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140355145C>T	ENST00000277531.4	-	33	3997	c.3811G>A	c.(3811-3813)Gtc>Atc	p.V1271I	NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.V877I|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000371473.3_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.V1296I|NSMF_ENST00000371475.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1271					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCCTGGGGACGTCCAGCAGC	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		19662	0.0		0.0	False		,,,				2504	0.002					ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3886-3888)Gtc>Atc		patatin-like phospholipase domain containing 7							106.0	85.0	92.0					9																	140355145		2202	4300	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140355145C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3811G>A	9.37:g.140355145C>T	ENSP00000277531:p.Val1271Ile					PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.V877I|PNPLA7_ENST00000277531.4_Missense_Mutation_p.V1271I	p.V1296I	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	34	4222	-	all_cancers(76;0.126)		1271					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3886G>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039820	0.19669	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.70869	-0.52;3.4;0.29;0.29;0.28	4.16	-4.19	0.03835	.	0.738804	0.12140	N	0.495978	T	0.30947	0.0781	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.14012	0.006;0.009;0.002;0.001	B;B;B;B	0.11329	0.006;0.004;0.002;0.001	T	0.34477	-0.9827	10	0.13853	T	0.58	-3.1928	4.5747	0.12226	0.1997:0.2371:0.0:0.5632	.	679;1296;1271;518	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	I	877;679;1271;1296;1208;1262	ENSP00000360512:V877I;ENSP00000360501:V679I;ENSP00000277531:V1271I;ENSP00000384610:V1296I;ENSP00000400582:V1262I	ENSP00000277531:V1271I	V	-	1	0	PNPLA7	139474966	1.000000	0.71417	0.000000	0.03702	0.288000	0.27193	0.559000	0.23485	-0.578000	0.05959	0.467000	0.42956	GTC		0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		4	43	0	0	0	1	0	4	43				
WNT10A	80326	broad.mit.edu	37	2	219754749	219754749	+	Silent	SNP	C	C	T	rs148979463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219754749C>T	ENST00000258411.3	+	3	1053	c.420C>T	c.(418-420)ggC>ggT	p.G140G	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	140					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGCTGGCGTGGTGCACG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		20397	0.0		0.001	False		,,,				2504	0.0					ENST00000258411.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(418-420)ggC>ggT		wingless-type MMTV integration site family, member 10A		C		1,4405	2.1+/-5.4	0,1,2202	93.0	80.0	84.0		420	-8.9	0.2	2	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WNT10A	NM_025216.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		140/418	219754749	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219754749C>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.420C>T	2.37:g.219754749C>T						WNT10A_ENST00000483911.1_3'UTR	p.G140G	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1053	+		Renal(207;0.0474)	140					Q53S44|Q96TA7|Q9H7S8	Silent	SNP	ENST00000258411.3	37	c.420C>T	CCDS2426.1																																																																																				0.617	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		4	58	0	0	0	1	0	4	58				
MCF2L	23263	broad.mit.edu	37	13	113751159	113751159	+	3'UTR	SNP	G	G	A	rs577482036	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113751159G>A	ENST00000375608.3	+	0	3632				MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000375604.2_Missense_Mutation_p.D1179N|MCF2L_ENST00000535094.2_Missense_Mutation_p.D1122N|MCF2L_ENST00000423482.2_Missense_Mutation_p.D1120N|MCF2L_ENST00000375601.3_Missense_Mutation_p.D1126N			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCCTTCTCCGACCTGCAGGG	0.771													g|||	4	0.000798722	0.0	0.0	5008	,	,		10277	0.004		0.0	False		,,,				2504	0.0					ENST00000375601.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3376-3378)Gac>Aac		MCF.2 cell line derived transforming sequence-like							5.0	6.0	6.0					13																	113751159		1422	3358	4780	SO:0001624	3_prime_UTR_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113751159G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.*160G>A	13.37:g.113751159G>A						MCF2L_ENST00000375608.3_3'UTR|MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000535094.2_Missense_Mutation_p.D1122N|MCF2L_ENST00000375604.2_Missense_Mutation_p.D1179N|MCF2L_ENST00000423482.2_Missense_Mutation_p.D1120N	p.D1126N			O15068	MCF2L_HUMAN			30	3703	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	0					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.3376G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.82|16.82	3.227233|3.227233	0.58668|0.58668	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375604;ENST00000535094;ENST00000375601;ENST00000423482|ENST00000453297	T;T;T;T|.	0.50277|.	0.75;0.86;0.82;0.86|.	4.96|4.96	4.12|4.12	0.48240|0.48240	.|.	.|.	.|.	.|.	.|.	T|T	0.26521|0.26521	0.0648|0.0648	N|N	0.08118|0.08118	0|0	0.31381|0.31381	N|N	0.678973|0.678973	B;B;B|.	0.18968|.	0.032;0.032;0.032|.	B;B;B|.	0.15052|.	0.007;0.007;0.012|.	T|T	0.25847|0.25847	-1.0120|-1.0120	9|5	0.72032|.	D|.	0.01|.	.|.	12.913|12.913	0.58190|0.58190	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	1120;1122;1179|.	E9PDN8;O15068-9;G5E9A1|.	.;.;.|.	N|Q	1179;1122;1126;1120|332	ENSP00000364754:D1179N;ENSP00000440374:D1122N;ENSP00000364751:D1126N;ENSP00000405639:D1120N|.	ENSP00000364751:D1126N|.	D|R	+|+	1|2	0|0	MCF2L|MCF2L	112799160|112799160	1.000000|1.000000	0.71417|0.71417	0.197000|0.197000	0.23402|0.23402	0.002000|0.002000	0.02628|0.02628	5.391000|5.391000	0.66266|0.66266	1.204000|1.204000	0.43247|0.43247	-0.244000|-0.244000	0.11960|0.11960	GAC|CGA		0.771	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			4	4	0	0	0	1	0	4	4				
PRKCH	5583	broad.mit.edu	37	14	61952287	61952287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61952287G>A	ENST00000332981.5	+	10	1731	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	PRKCH_ENST00000555082.1_Missense_Mutation_p.R288H	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGAAGTCTCGTCGTTTTGAT	0.443																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1345-1347)cGt>cAt		protein kinase C, eta							275.0	266.0	269.0					14																	61952287		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61952287G>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1346G>A	14.37:g.61952287G>A	ENSP00000329127:p.Arg449His					PRKCH_ENST00000555082.1_Missense_Mutation_p.R288H	p.R449H	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	10	1731	+			449			Protein kinase.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1346G>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883408	0.91740	.	.	ENSG00000027075	ENST00000555185;ENST00000332981;ENST00000555082	T;T;T	0.66460	-0.21;1.79;1.79	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.74581	0.3735	L	0.38531	1.155	0.80722	D	1	D	0.76494	0.999	D	0.65233	0.933	T	0.72763	-0.4195	10	0.44086	T	0.13	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	449	P24723	KPCL_HUMAN	H	17;449;288	ENSP00000451871:R17H;ENSP00000329127:R449H;ENSP00000450981:R288H	ENSP00000329127:R449H	R	+	2	0	PRKCH	61022040	1.000000	0.71417	0.868000	0.34077	0.947000	0.59692	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	CGT		0.443	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		94	136	0	0	0	1	0	94	136				
TENM4	26011	broad.mit.edu	37	11	78383351	78383351	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78383351A>G	ENST00000278550.7	-	31	5982	c.5520T>C	c.(5518-5520)tcT>tcC	p.S1840S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1840					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAAAGTCCAGAGATAGGAGAT	0.512																																						ENST00000278550.7																			0											c.(5518-5520)tcT>tcC		teneurin transmembrane protein 4							86.0	84.0	85.0					11																	78383351		1918	4137	6055	SO:0001819	synonymous_variant	26011							g.chr11:78383351A>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5520T>C	11.37:g.78383351A>G							p.S1840S	NM_001098816.2	NP_001092286.2					31	5982	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.5520T>C	CCDS44688.1																																																																																				0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			15	51	0	0	0	1	0	15	51				
FZD4	8322	broad.mit.edu	37	11	86663407	86663407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86663407C>T	ENST00000531380.1	-	2	696	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	131	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTTCAGGACGGGTTCACAG	0.517																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(391-393)Gtc>Atc		frizzled family receptor 4							97.0	104.0	102.0					11																	86663407		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663407C>T	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.391G>A	11.37:g.86663407C>T	ENSP00000434034:p.Val131Ile					PRSS23_ENST00000533902.2_3'UTR	p.V131I	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	696	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	131			FZ.		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.391G>A	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821584	0.50633	.	.	ENSG00000174804	ENST00000531380	T	0.79845	-1.31	5.82	5.82	0.92795	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	L	0.34521	1.04	0.58432	D	0.999999	P	0.36944	0.574	B	0.43331	0.416	T	0.74244	-0.3728	9	.	.	.	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	131	Q9ULV1	FZD4_HUMAN	I	131	ENSP00000434034:V131I	.	V	-	1	0	FZD4	86341055	0.999000	0.42202	0.972000	0.41901	0.995000	0.86356	3.999000	0.57031	2.760000	0.94817	0.655000	0.94253	GTC		0.517	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		15	148	0	0	0	1	0	15	148				
DDI1	414301	broad.mit.edu	37	11	103908442	103908442	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103908442A>T	ENST00000302259.3	+	1	1135	c.892A>T	c.(892-894)Att>Ttt	p.I298F	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	298							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CACACAGAGAATTATTGGCCG	0.488																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(892-894)Att>Ttt		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							125.0	115.0	119.0					11																	103908442		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908442A>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.892A>T	11.37:g.103908442A>T	ENSP00000302805:p.Ile298Phe					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.I298F	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1135	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	298					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.892A>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830840	0.50845	.	.	ENSG00000170967	ENST00000302259	T	0.56275	0.47	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81739	-0.0795	10	0.87932	D	0	-28.2312	13.3819	0.60773	1.0:0.0:0.0:0.0	.	298	Q8WTU0	DDI1_HUMAN	F	298	ENSP00000302805:I298F	ENSP00000302805:I298F	I	+	1	0	DDI1	103413652	1.000000	0.71417	0.061000	0.19648	0.017000	0.09413	8.346000	0.90060	2.326000	0.78906	0.533000	0.62120	ATT		0.488	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		7	53	0	0	0	1	0	7	53				
SRGAP2	23380	broad.mit.edu	37	1	206626618	206626618	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206626618A>C	ENST00000414007.1	+	16	1832	c.1832A>C	c.(1831-1833)aAg>aCg	p.K611T	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.K56T			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	751	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCTTTAAGAAGGGAGCATCC	0.567																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(1831-1833)aAg>aCg		SLIT-ROBO Rho GTPase activating protein 2							41.0	40.0	40.0					1																	206626618		2072	4226	6298	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206626618A>C	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1832A>C	1.37:g.206626618A>C	ENSP00000390898:p.Lys611Thr					SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.K56T	p.K611T			O75044	FNBP2_HUMAN			16	1832	+	Breast(84;0.137)		751			Rho-GAP.			Missense_Mutation	SNP	ENST00000414007.1	37	c.1832A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.164064|5.164064	0.94727|0.94727	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007;ENST00000419187;ENST00000439126	.|T;T;T	.|0.56776	.|1.02;0.44;0.44	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Src homology-3 domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72366|0.72366	0.3451|0.3451	.|.	.|.	.|.	.|0.38067	.|D	.|0.936250	.|D;D	.|0.63046	.|0.992;0.976	.|P;D	.|0.69654	.|0.874;0.965	T|T	0.79191|0.79191	-0.1905|-0.1905	3|8	.|0.87932	.|D	.|0	.|.	15.0081|15.0081	0.71527|0.71527	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|598;751	.|B4DDU0;O75044	.|.;FNBP2_HUMAN	D|T	664|664;611;56;365	.|ENSP00000390898:K611T;ENSP00000397990:K56T;ENSP00000403036:K365T	.|ENSP00000390898:K611T	E|K	+|+	3|2	2|0	SRGAP2|SRGAP2	204693241|204693241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.287000|9.287000	0.95975|0.95975	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.567	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		9	9	0	0	0	1	0	9	9				
MCPH1	79648	broad.mit.edu	37	8	6312716	6312716	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6312716C>A	ENST00000344683.5	+	9	1954	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	626					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CATGTGACGGCTTTAAGGACC	0.348																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1876-1878)ggC>ggA		microcephalin 1							145.0	139.0	141.0					8																	6312716		1849	4104	5953	SO:0001819	synonymous_variant	79648					microtubule organizing center		g.chr8:6312716C>A	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1878C>A	8.37:g.6312716C>A							p.G626G	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	9	1954	+		Hepatocellular(245;0.0663)	626					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	ENST00000344683.5	37	c.1878C>A	CCDS43689.1																																																																																				0.348	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		13	97	1	0	0.0242445	1	0.0249276	13	97				
ZBTB7B	51043	broad.mit.edu	37	1	154988695	154988695	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154988695G>T	ENST00000368426.3	+	4	1291		c.e4-1		ZBTB7B_ENST00000292176.2_Splice_Site|ZBTB7B_ENST00000417934.2_Splice_Site|ZBTB7B_ENST00000535420.1_Splice_Site	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B						cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTGTGCCAGGAACGACAAG	0.637																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.e4-1		zinc finger and BTB domain containing 7B							72.0	67.0	68.0					1																	154988695		2203	4300	6503	SO:0001630	splice_region_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988695G>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1155-1G>T	1.37:g.154988695G>T						ZBTB7B_ENST00000535420.1_Splice_Site|ZBTB7B_ENST00000417934.2_Splice_Site|ZBTB7B_ENST00000292176.2_Splice_Site		NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1291	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Splice_Site	SNP	ENST00000368426.3	37		CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	18.25	3.582806	0.65992	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6873	0.62524	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZBTB7B	153255319	1.000000	0.71417	0.998000	0.56505	0.305000	0.27757	7.684000	0.84104	2.162000	0.67917	0.457000	0.33378	.		0.637	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872	Intron	11	42	1	0	1.67772e-17	1	2.17749e-17	11	42				
DGKZ	8525	broad.mit.edu	37	11	46393986	46393986	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46393986G>T	ENST00000454345.1	+	12	1625	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	DGKZ_ENST00000528615.1_Missense_Mutation_p.K90N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K312N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K316N|DGKZ_ENST00000318201.8_Missense_Mutation_p.K289N|DGKZ_ENST00000421244.2_Missense_Mutation_p.K312N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K328N|DGKZ_ENST00000456247.2_Missense_Mutation_p.K311N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K278N|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	500	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGTGCAAAGATCATCCAGT	0.582																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(1498-1500)aaG>aaT		diacylglycerol kinase, zeta							96.0	75.0	82.0					11																	46393986		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46393986G>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1500G>T	11.37:g.46393986G>T	ENSP00000412178:p.Lys500Asn					DGKZ_ENST00000318201.8_Missense_Mutation_p.K289N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K278N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K316N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.K312N|DGKZ_ENST00000456247.2_Missense_Mutation_p.K311N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K90N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K312N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K328N	p.K500N	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	12	1625	+			500			DAGKc.|Mediates interaction with RASGRP1.		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1500G>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368542	0.61624	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.68	3.76	0.43208	Diacylglycerol kinase, catalytic domain (3);	0.045925	0.85682	D	0.000000	T	0.45094	0.1325	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.67145	0.993;0.993;0.994;0.993;0.986;0.979;0.979;0.981;0.996	D;D;D;D;D;D;D;D;D	0.77557	0.962;0.983;0.974;0.962;0.976;0.952;0.936;0.94;0.99	T	0.41034	-0.9531	10	0.87932	D	0	.	10.4922	0.44756	0.1593:0.0:0.8407:0.0	.	289;277;255;312;500;311;312;278;328	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	N	328;90;278;277;312;311;312;289;500	ENSP00000343065:K328N;ENSP00000434719:K90N;ENSP00000378941:K278N;ENSP00000436273:K277N;ENSP00000436291:K312N;ENSP00000395684:K311N;ENSP00000391021:K312N;ENSP00000320340:K289N;ENSP00000412178:K500N	ENSP00000320340:K289N	K	+	3	2	DGKZ	46350562	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	3.938000	0.56583	1.099000	0.41499	0.467000	0.42956	AAG		0.582	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		20	27	1	0	1.96292e-10	1	2.41709e-10	20	27				
TBC1D13	54662	broad.mit.edu	37	9	131559450	131559450	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131559450T>G	ENST00000372648.5	+	7	650	c.500T>G	c.(499-501)cTg>cGg	p.L167R	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.L167R	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	167	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGACAACACTGAAATCTCAG	0.527																																						ENST00000372648.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(499-501)cTg>cGg		TBC1 domain family, member 13							90.0	93.0	92.0					9																	131559450		2203	4300	6503	SO:0001583	missense	54662					intracellular	Rab GTPase activator activity	g.chr9:131559450T>G	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.500T>G	9.37:g.131559450T>G	ENSP00000361731:p.Leu167Arg					TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.L167R	p.L167R	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN			7	650	+			167			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	c.500T>G	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.787575	0.90367	.	.	ENSG00000107021	ENST00000372648;ENST00000223865	T;T	0.51817	0.69;0.69	5.46	5.46	0.80206	Rab-GAP/TBC domain (3);	0.000000	0.64402	D	0.000002	T	0.70684	0.3252	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.991;0.994	T	0.71553	-0.4558	10	0.24483	T	0.36	-11.8388	14.7117	0.69238	0.0:0.0:0.0:1.0	.	167;167	Q9NVG8-2;Q9NVG8	.;TBC13_HUMAN	R	167	ENSP00000361731:L167R;ENSP00000223865:L167R	ENSP00000223865:L167R	L	+	2	0	TBC1D13	130599271	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	7.846000	0.86887	2.083000	0.62718	0.459000	0.35465	CTG		0.527	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		41	62	0	0	0	1	0	41	62				
ANGPT1	284	broad.mit.edu	37	8	108296941	108296941	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296941A>C	ENST00000520734.1	-	6	859	c.574T>G	c.(574-576)Ttc>Gtc	p.F192V	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.F191V			Q15389	ANGP1_HUMAN	angiopoietin 1	392					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCTATGTGGAATCTGTCATAC	0.388																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(574-576)Ttc>Gtc		angiopoietin 1							150.0	127.0	135.0					8																	108296941		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108296941A>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.574T>G	8.37:g.108296941A>C	ENSP00000430750:p.Phe192Val					ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.F191V	p.F192V			Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		6	859	-	Breast(1;5.06e-08)		392					Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.574T>G		.	.	.	.	.	.	.	.	.	.	A	28.8	4.950610	0.92660	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.93062	3.375	0.80722	D	1	P;D;D	0.58620	0.538;0.983;0.983	P;D;D	0.66084	0.616;0.941;0.941	D	0.87485	0.2423	10	0.87932	D	0	.	16.0098	0.80391	1.0:0.0:0.0:0.0	.	191;392;392	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	V	392;391;192;191	ENSP00000428340:F392V;ENSP00000297450:F391V;ENSP00000430750:F192V;ENSP00000429349:F191V	ENSP00000297450:F391V	F	-	1	0	ANGPT1	108366117	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	TTC		0.388	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		13	55	0	0	0	1	0	13	55				
ARHGEF10L	55160	broad.mit.edu	37	1	17983182	17983182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17983182G>A	ENST00000361221.3	+	25	2998	c.2839G>A	c.(2839-2841)Gct>Act	p.A947T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A650T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A942T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A720T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	947						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGGACCCTTGCTGCTTACCC	0.647																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2839-2841)Gct>Act		Rho guanine nucleotide exchange factor (GEF) 10-like							45.0	46.0	46.0					1																	17983182		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17983182G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2839G>A	1.37:g.17983182G>A	ENSP00000355060:p.Ala947Thr					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A720T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A942T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A650T	p.A947T	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	25	2998	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	947					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.2839G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679245	0.88542	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.62941	3.36;3.36;-0.01;3.36;3.36;3.36	4.72	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.311872	0.34676	N	0.003775	T	0.67571	0.2907	M	0.72576	2.205	0.44207	D	0.997038	B;P;P;P;P;P;P	0.49862	0.378;0.929;0.724;0.564;0.86;0.909;0.76	B;P;B;B;P;P;B	0.48524	0.212;0.55;0.263;0.271;0.535;0.58;0.376	T	0.68481	-0.5397	10	0.33141	T	0.24	-26.1294	15.1562	0.72743	0.0:0.0:1.0:0.0	.	720;942;650;708;903;908;947	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	T	947;908;942;908;720;720;650	ENSP00000355060:A947T;ENSP00000399401:A908T;ENSP00000394621:A942T;ENSP00000364564:A908T;ENSP00000364557:A720T;ENSP00000167825:A650T	ENSP00000167825:A650T	A	+	1	0	ARHGEF10L	17855769	0.990000	0.36364	0.999000	0.59377	0.913000	0.54294	4.392000	0.59659	2.161000	0.67846	0.555000	0.69702	GCT		0.647	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		4	44	0	0	0	1	0	4	44				
PRKG1	5592	broad.mit.edu	37	10	54031201	54031201	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54031201G>A	ENST00000401604.2	+	11	1414	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.R395H|PRKG1_ENST00000373975.2_Missense_Mutation_p.R125H|PRKG1_ENST00000373980.4_Missense_Mutation_p.R422H			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAGCACATCCGCTCAGAGAAG	0.463																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1264-1266)cGc>cAc		protein kinase, cGMP-dependent, type I							80.0	75.0	76.0					10																	54031201		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54031201G>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1220G>A	10.37:g.54031201G>A	ENSP00000384200:p.Arg407His					PRKG1_ENST00000401604.2_Missense_Mutation_p.R407H|PRKG1_ENST00000373985.1_Missense_Mutation_p.R395H|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R125H	p.R422H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	11	1682	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	407			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1265G>A	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475124	0.63737	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.68479	-0.33;-0.33;-0.33	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.63843	1.955	0.80722	D	1	B;D;D	0.61080	0.013;0.982;0.989	B;P;P	0.51324	0.013;0.536;0.666	T	0.74538	-0.3632	10	0.42905	T	0.14	-7.7743	18.0731	0.89417	0.0:0.0:1.0:0.0	.	125;422;407	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	H	407;395;422;125;19	ENSP00000384200:R407H;ENSP00000363097:R395H;ENSP00000363092:R422H	ENSP00000327642:R125H	R	+	2	0	PRKG1	53701207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.295000	0.96095	2.435000	0.82474	0.551000	0.68910	CGC		0.463	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	24	0	0	0	1	0	4	24				
BTBD8	284697	broad.mit.edu	37	1	92612769	92612769	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92612769A>G	ENST00000342818.3	+	8	1199	c.963A>G	c.(961-963)gaA>gaG	p.E321E	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	321						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTATACTAGAATGCCTGATTA	0.328																																						ENST00000342818.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(961-963)gaA>gaG		BTB (POZ) domain containing 8							169.0	166.0	167.0					1																	92612769		2203	4300	6503	SO:0001819	synonymous_variant	284697					nucleus		g.chr1:92612769A>G	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.963A>G	1.37:g.92612769A>G						BTBD8_ENST00000540648.1_3'UTR	p.E321E	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	8	1199	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	321					Q6V9S5	Silent	SNP	ENST00000342818.3	37	c.963A>G	CCDS737.1																																																																																				0.328	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		11	134	0	0	0	1	0	11	134				
ESPL1	9700	broad.mit.edu	37	12	53687208	53687208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687208C>A	ENST00000257934.4	+	31	6404	c.6313C>A	c.(6313-6315)Ctt>Att	p.L2105I	PFDN5_ENST00000550846.1_5'Flank|PFDN5_ENST00000351500.3_5'Flank|PFDN5_ENST00000334478.4_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.L2105I|PFDN5_ENST00000551018.1_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2105					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACTCAAGTATCTTATTGGGGC	0.552																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(6313-6315)Ctt>Att		extra spindle pole bodies homolog 1 (S. cerevisiae)							65.0	67.0	66.0					12																	53687208		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53687208C>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6313C>A	12.37:g.53687208C>A	ENSP00000257934:p.Leu2105Ile					ESPL1_ENST00000552462.1_Missense_Mutation_p.L2105I	p.L2105I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			31	6404	+			2105						Missense_Mutation	SNP	ENST00000257934.4	37	c.6313C>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752552	0.49362	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.38240	1.15;1.15	4.73	4.73	0.59995	.	0.069516	0.64402	D	0.000018	T	0.27798	0.0684	L	0.48642	1.525	0.38194	D	0.939981	P	0.38020	0.615	B	0.33121	0.158	T	0.10613	-1.0622	10	0.27785	T	0.31	.	10.6156	0.45447	0.2977:0.7023:0.0:0.0	.	2105	Q14674	ESPL1_HUMAN	I	2105;1780;2105	ENSP00000257934:L2105I;ENSP00000449831:L2105I	ENSP00000257934:L2105I	L	+	1	0	ESPL1	51973475	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.659000	0.46741	2.621000	0.88768	0.563000	0.77884	CTT		0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		4	45	1	0	0.00909568	1	0.00947522	4	45				
TRIM37	4591	broad.mit.edu	37	17	57093036	57093036	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57093036A>T	ENST00000262294.7	-	21	2770	c.2511T>A	c.(2509-2511)gcT>gcA	p.A837A	TRIM37_ENST00000376149.3_Silent_p.A715A|TRIM37_ENST00000393066.3_Silent_p.A837A|TRIM37_ENST00000393065.2_Silent_p.A803A	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	837					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAACCACAACAGCATCTGAAT	0.448									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2143-2145)gcT>gcA		tripartite motif containing 37							148.0	154.0	152.0					17																	57093036		2203	4300	6503	SO:0001819	synonymous_variant	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57093036A>T	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2511T>A	17.37:g.57093036A>T						TRIM37_ENST00000262294.7_Silent_p.A837A|TRIM37_ENST00000393065.2_Silent_p.A803A|TRIM37_ENST00000393066.3_Silent_p.A837A	p.A715A			O94972	TRI37_HUMAN			21	2954	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		837					Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	c.2145T>A	CCDS32694.1																																																																																				0.448	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		5	141	0	0	0	1	0	5	141				
FRG2B	441581	broad.mit.edu	37	10	135438839	135438839	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135438839G>T	ENST00000425520.1	-	4	653	c.601C>A	c.(601-603)Cca>Aca	p.P201T	FRG2B_ENST00000443774.1_Missense_Mutation_p.P202T	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	201						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGGTAAGTGGAGAATGGATC	0.552																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(604-606)Cca>Aca		FSHD region gene 2 family, member B							19.0	23.0	22.0					10																	135438839		2014	4151	6165	SO:0001583	missense	441581					nucleus		g.chr10:135438839G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.601C>A	10.37:g.135438839G>T	ENSP00000401310:p.Pro201Thr					FRG2B_ENST00000425520.1_Missense_Mutation_p.P201T	p.P202T			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	653	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	201					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.604C>A	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.582725	0.28180	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.48522	0.81;0.81	.	.	.	.	0.419100	0.17741	N	0.163577	T	0.47838	0.1467	L	0.27053	0.805	0.09310	N	0.999999	D	0.69078	0.997	D	0.78314	0.991	T	0.32052	-0.9921	8	0.39692	T	0.17	-5.3249	.	.	.	.	201	Q96QU4	FRG2B_HUMAN	T	202;201	ENSP00000408343:P202T;ENSP00000401310:P201T	ENSP00000401310:P201T	P	-	1	0	FRG2B	135288829	0.027000	0.19231	0.467000	0.27180	0.472000	0.32918	0.308000	0.19314	0.119000	0.18210	0.121000	0.15741	CCA		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		22	46	1	0	2.89027e-11	1	3.59474e-11	22	46				
IPO7	10527	broad.mit.edu	37	11	9451283	9451283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9451283G>T	ENST00000379719.3	+	15	1796	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	552					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CATTATAAGAGAAACAGAAAA	0.343																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1654-1656)Gaa>Taa		importin 7							65.0	59.0	61.0					11																	9451283		2200	4295	6495	SO:0001587	stop_gained	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9451283G>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1654G>T	11.37:g.9451283G>T	ENSP00000369042:p.Glu552*						p.E552*	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	15	1796	+			552					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Nonsense_Mutation	SNP	ENST00000379719.3	37	c.1654G>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	40	8.181310	0.98693	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	552	.	ENSP00000369042:E552X	E	+	1	0	IPO7	9407859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAA		0.343	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		22	30	1	0	8.04996e-18	1	1.04647e-17	22	30				
TSPYL5	85453	broad.mit.edu	37	8	98289179	98289179	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98289179G>A	ENST00000322128.3	-	1	997	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	298					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGTTGCGATCGAAGTAGAACT	0.478																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(892-894)ttC>ttT		TSPY-like 5							82.0	83.0	83.0					8																	98289179		2203	4300	6503	SO:0001819	synonymous_variant	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289179G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.894C>T	8.37:g.98289179G>A							p.F298F	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	997	-	Breast(36;2.56e-06)		298					B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	c.894C>T	CCDS34927.1																																																																																				0.478	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		4	44	0	0	0	1	0	4	44				
UQCRC1	7384	broad.mit.edu	37	3	48638221	48638221	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48638221C>A	ENST00000203407.5	-	9	1435	c.1019G>T	c.(1018-1020)aGt>aTt	p.S340I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	340					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGTCTGGAAACTCTGGCATAG	0.547																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1018-1020)aGt>aTt		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						76.0	70.0	72.0					3																	48638221		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48638221C>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1019G>T	3.37:g.48638221C>A	ENSP00000203407:p.Ser340Ile						p.S340I	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	9	1435	-			340					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1019G>T	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769927	0.90020	.	.	ENSG00000010256	ENST00000203407	T	0.11604	2.76	5.72	4.85	0.62838	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.59627	-0.7419	10	0.87932	D	0	-14.2418	14.817	0.70041	0.0:0.9307:0.0:0.0693	.	225;340	B4DUL5;P31930	.;QCR1_HUMAN	I	340	ENSP00000203407:S340I	ENSP00000203407:S340I	S	-	2	0	UQCRC1	48613225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.082000	0.71318	1.425000	0.47237	0.561000	0.74099	AGT		0.547	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		4	51	1	0	0.00024832	1	0.0002712	4	51				
FLNA	2316	broad.mit.edu	37	X	153592534	153592534	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592534C>A	ENST00000369850.3	-	15	2373		c.e15-1		FLNA_ENST00000422373.1_Splice_Site|FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000360319.4_Splice_Site	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCATTGTCCTGTCAGGCAG	0.627																																						ENST00000422373.1																			0				breast(6)	6						c.e15-1		filamin A, alpha							69.0	74.0	72.0					X																	153592534		2091	4183	6274	SO:0001630	splice_region_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592534C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2137-1G>T	X.37:g.153592534C>A						FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site		NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			15	2385	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							E9KL45|Q5HY53|Q5HY55|Q8NF52	Splice_Site	SNP	ENST00000369850.3	37		CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605208	0.46423	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4666	0.87634	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLNA	153245728	1.000000	0.71417	0.997000	0.53966	0.372000	0.29890	7.815000	0.86186	2.049000	0.60858	0.525000	0.51046	.		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		Intron	7	96	1	0	0.000157383	1	0.00017284	7	96				
SMPD3	55512	broad.mit.edu	37	16	68405102	68405102	+	Missense_Mutation	SNP	G	G	A	rs376300959		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68405102G>A	ENST00000219334.5	-	3	1586	c.983C>T	c.(982-984)tCg>tTg	p.S328L	SMPD3_ENST00000563226.1_Missense_Mutation_p.S328L|SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Missense_Mutation_p.S328L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	328					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTTCACCACCGAGGCCTTGTA	0.682																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(982-984)tCg>tTg		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)	G	LEU/SER	0,4396		0,0,2198	36.0	39.0	38.0		983	5.2	1.0	16		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	SMPD3	NM_018667.3	145	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	328/656	68405102	1,12995	2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405102G>A	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.983C>T	16.37:g.68405102G>A	ENSP00000219334:p.Ser328Leu					SMPD3_ENST00000563226.1_Missense_Mutation_p.S328L|SMPD3_ENST00000568373.1_Missense_Mutation_p.S328L	p.S328L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1586	-		Ovarian(137;0.0563)	328					B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.983C>T	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678717	0.68042	0.0	1.16E-4	ENSG00000103056	ENST00000219334	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.60455	1.87	0.53005	D	0.999968	D;P;D	0.57571	0.98;0.943;0.98	P;P;P	0.44897	0.463;0.463;0.463	T	0.66551	-0.5895	9	0.87932	D	0	-9.1252	16.2233	0.82274	0.0:0.0:1.0:0.0	.	328;328;328	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	L	328	.	ENSP00000219334:S328L	S	-	2	0	SMPD3	66962603	1.000000	0.71417	0.990000	0.47175	0.532000	0.34746	7.521000	0.81832	2.406000	0.81754	0.462000	0.41574	TCG		0.682	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		12	19	0	0	0	1	0	12	19				
CSDE1	7812	broad.mit.edu	37	1	115276643	115276643	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115276643G>A	ENST00000358528.4	-	8	1104	c.678C>T	c.(676-678)ggC>ggT	p.G226G	CSDE1_ENST00000438362.2_Silent_p.G272G|CSDE1_ENST00000261443.5_Silent_p.G195G|CSDE1_ENST00000339438.6_Silent_p.G195G|CSDE1_ENST00000534699.1_Silent_p.G226G|CSDE1_ENST00000530886.1_Silent_p.G96G|CSDE1_ENST00000369530.1_Silent_p.G241G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	226	CSD 3.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCATCGCCAGGCTGTA	0.358																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(814-816)ggC>ggT		cold shock domain containing E1, RNA-binding							87.0	83.0	84.0					1																	115276643		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115276643G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.678C>T	1.37:g.115276643G>A						CSDE1_ENST00000530886.1_Silent_p.G96G|CSDE1_ENST00000369530.1_Silent_p.G241G|CSDE1_ENST00000358528.4_Silent_p.G226G|CSDE1_ENST00000261443.5_Silent_p.G195G|CSDE1_ENST00000534699.1_Silent_p.G226G|CSDE1_ENST00000339438.6_Silent_p.G195G	p.G272G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1194	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	226					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.816C>T	CCDS30812.1																																																																																				0.358	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		36	46	0	0	0	1	0	36	46				
NAE1	8883	broad.mit.edu	37	16	66842453	66842453	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66842453C>A	ENST00000290810.3	-	17	1398	c.1301G>T	c.(1300-1302)aGa>aTa	p.R434I	NAE1_ENST00000379463.2_Missense_Mutation_p.R428I|NAE1_ENST00000359087.4_Missense_Mutation_p.R437I|NAE1_ENST00000394074.2_Missense_Mutation_p.R345I			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	434					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTATGAAATCTATCAACAGC	0.289																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1282-1284)aGa>aTa		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						114.0	123.0	120.0					16																	66842453		2200	4295	6495	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842453C>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1301G>T	16.37:g.66842453C>A	ENSP00000290810:p.Arg434Ile					NAE1_ENST00000394074.2_Missense_Mutation_p.R345I|NAE1_ENST00000290810.3_Missense_Mutation_p.R434I|NAE1_ENST00000359087.4_Missense_Mutation_p.R437I	p.R428I	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	18	1475	-		Ovarian(137;0.0563)	434					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1283G>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639740	0.29157	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.59	5.59	0.84812	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.75264	2.295	0.80722	D	1	P;D;P	0.71674	0.465;0.998;0.95	B;P;P	0.57960	0.071;0.83;0.716	T	0.61758	-0.6997	10	0.44086	T	0.13	-18.8523	19.5947	0.95530	0.0:1.0:0.0:0.0	.	437;434;428	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	I	437;434;428;345	ENSP00000351990:R437I;ENSP00000290810:R434I;ENSP00000368776:R428I;ENSP00000377637:R345I	ENSP00000290810:R434I	R	-	2	0	NAE1	65399954	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	5.509000	0.67012	2.632000	0.89209	0.655000	0.94253	AGA		0.289	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		71	80	1	0	2.05912e-35	1	2.77066e-35	71	80				
EP400	57634	broad.mit.edu	37	12	132537755	132537755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132537755G>A	ENST00000333577.4	+	43	7676	c.7567G>A	c.(7567-7569)Gca>Aca	p.A2523T	EP400_ENST00000389561.2_Missense_Mutation_p.A2487T|EP400_ENST00000332482.4_Missense_Mutation_p.A2450T|EP400_ENST00000330386.6_Missense_Mutation_p.A2406T|EP400_ENST00000389562.2_Missense_Mutation_p.A2486T			Q96L91	EP400_HUMAN	E1A binding protein p400	2523					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAGCGAATCGCAAAAGAGAA	0.537																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(7567-7569)Gca>Aca		E1A binding protein p400							139.0	135.0	136.0					12																	132537755		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132537755G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7567G>A	12.37:g.132537755G>A	ENSP00000333602:p.Ala2523Thr					EP400_ENST00000332482.4_Missense_Mutation_p.A2450T|EP400_ENST00000389561.2_Missense_Mutation_p.A2487T|EP400_ENST00000389562.2_Missense_Mutation_p.A2486T|EP400_ENST00000330386.6_Missense_Mutation_p.A2406T	p.A2523T			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	43	7676	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2523					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.7567G>A		.	.	.	.	.	.	.	.	.	.	G	15.09	2.731212	0.48939	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.91180	-2.8;-2.78;-2.79;-2.8;-2.79	5.12	4.2	0.49525	.	0.054165	0.64402	D	0.000001	D	0.91975	0.7458	M	0.72479	2.2	0.41668	D	0.989228	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.51297	0.665;0.665;0.665	D	0.91048	0.4876	10	0.37606	T	0.19	.	14.6542	0.68820	0.0:0.0:0.8534:0.1466	.	2487;2406;2486	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	2523;2487;2486;2450;2406;2487	ENSP00000333602:A2523T;ENSP00000374212:A2487T;ENSP00000374213:A2486T;ENSP00000331737:A2450T;ENSP00000330620:A2406T	ENSP00000330620:A2406T	A	+	1	0	EP400	131103708	1.000000	0.71417	0.973000	0.42090	0.896000	0.52359	9.225000	0.95219	1.077000	0.40990	0.491000	0.48974	GCA		0.537	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		28	46	0	0	0	1	0	28	46				
SRP68	6730	broad.mit.edu	37	17	74066475	74066475	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74066475C>A	ENST00000307877.2	-	2	396	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	SRP68_ENST00000539137.1_Missense_Mutation_p.D79Y|SRP68_ENST00000355113.5_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CTCTGAAAATCTCCATGCCGT	0.373																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(235-237)Gat>Tat		signal recognition particle 68kDa							126.0	110.0	116.0					17																	74066475		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74066475C>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.235G>T	17.37:g.74066475C>A	ENSP00000312066:p.Asp79Tyr					SRP68_ENST00000539137.1_Missense_Mutation_p.D79Y|SRP68_ENST00000355113.5_Intron	p.D79Y	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			2	396	-			79					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.235G>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269044	0.80469	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	T	0.32988	1.43	4.14	4.14	0.48551	.	0.197772	0.50627	D	0.000105	T	0.60599	0.2281	M	0.87097	2.86	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.943	T	0.71076	-0.4697	10	0.87932	D	0	-26.6159	17.319	0.87231	0.0:1.0:0.0:0.0	.	79;79	G3V1U4;Q9UHB9	.;SRP68_HUMAN	Y	79	ENSP00000446136:D79Y	ENSP00000307756:D79Y	D	-	1	0	SRP68	71578070	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.254000	0.78329	2.246000	0.74042	0.455000	0.32223	GAT		0.373	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		5	22	1	0	0.00198382	1	0.00210581	5	22				
UPK3A	7380	broad.mit.edu	37	22	45689190	45689190	+	Missense_Mutation	SNP	C	C	A	rs376187969		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45689190C>A	ENST00000216211.4	+	5	732	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	UPK3A_ENST00000396082.2_Missense_Mutation_p.L113I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	234					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCCCTCAGCCTCGTGTAAGT	0.627																																						ENST00000216211.4																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(700-702)Ctc>Atc		uroplakin 3A							139.0	104.0	116.0					22																	45689190		2203	4300	6503	SO:0001583	missense	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45689190C>A	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.700C>A	22.37:g.45689190C>A	ENSP00000216211:p.Leu234Ile					UPK3A_ENST00000396082.2_Missense_Mutation_p.L113I	p.L234I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	732	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	234					B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	c.700C>A	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	C	5.224	0.226895	0.09916	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.84442	-0.18;-1.85	5.14	-0.00818	0.14006	.	0.731345	0.12711	N	0.445485	T	0.75213	0.3819	L	0.57536	1.79	0.19575	N	0.999962	B;B	0.22003	0.015;0.063	B;B	0.15870	0.014;0.013	T	0.56111	-0.8033	10	0.19147	T	0.46	-8.5872	1.1839	0.01851	0.1499:0.1824:0.1499:0.5177	.	113;234	O75631-2;O75631	.;UPK3A_HUMAN	I	234;113	ENSP00000216211:L234I;ENSP00000379391:L113I	ENSP00000216211:L234I	L	+	1	0	UPK3A	44067854	0.971000	0.33674	0.900000	0.35374	0.052000	0.14988	0.468000	0.22051	0.038000	0.15604	-0.152000	0.13540	CTC		0.627	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		5	60	1	0	8.12818e-05	1	8.99451e-05	5	60				
CRYGA	1418	broad.mit.edu	37	2	209027941	209027941	+	Missense_Mutation	SNP	C	C	T	rs139353014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:209027941C>T	ENST00000304502.4	-	2	258	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	80	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGGAATTATACGGCAGGATTG	0.498													C|||	11	0.00219649	0.0	0.0014	5008	,	,		17676	0.0		0.005	False		,,,				2504	0.0051					ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(238-240)cGt>cAt		crystallin, gamma A		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	69.0	73.0	72.0		239	-1.3	0.0	2	dbSNP_134	72	25,8575	17.3+/-56.4	1,23,4276	yes	missense	CRYGA	NM_014617.3	29	1,25,6477	TT,TC,CC		0.2907,0.0454,0.2076	benign	80/175	209027941	27,12979	2203	4300	6503	SO:0001583	missense	1418							g.chr2:209027941C>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.239G>A	2.37:g.209027941C>T	ENSP00000302105:p.Arg80His						p.R80H	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	258	-								Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.239G>A	CCDS33367.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	13.16	2.155217	0.38021	4.54E-4	0.002907	ENSG00000168582	ENST00000304502	D	0.82984	-1.67	4.64	-1.3	0.09259	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.171461	0.50627	N	0.000117	D	0.84383	0.5460	H	0.96996	3.92	0.42466	D	0.992809	P	0.47302	0.893	B	0.36504	0.226	T	0.82936	-0.0210	10	0.54805	T	0.06	.	9.5546	0.39330	0.0:0.5511:0.0:0.4489	.	80	P11844	CRGA_HUMAN	H	80	ENSP00000302105:R80H	ENSP00000302105:R80H	R	-	2	0	CRYGA	208736186	0.218000	0.23608	0.023000	0.16930	0.070000	0.16714	0.859000	0.27858	-0.361000	0.08125	-0.345000	0.07892	CGT		0.498	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		18	26	0	0	0	1	0	18	26				
TRMT10C	54931	broad.mit.edu	37	3	101284512	101284512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101284512A>G	ENST00000309922.6	+	2	1041	c.887A>G	c.(886-888)aAt>aGt	p.N296S		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	296	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GATTCTCCCAATGTTATGACT	0.373																																						ENST00000309922.6																			0											c.(886-888)aAt>aGt		tRNA methyltransferase 10 homolog C (S. cerevisiae)							65.0	64.0	65.0					3																	101284512		1856	4095	5951	SO:0001583	missense	54931							g.chr3:101284512A>G	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.887A>G	3.37:g.101284512A>G	ENSP00000312356:p.Asn296Ser						p.N296S	NM_017819.2	NP_060289.2					2	1041	+								Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.887A>G	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419760	0.62622	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.23147	1.92;1.92	6.17	6.17	0.99709	.	0.198038	0.52532	D	0.000069	T	0.45796	0.1360	M	0.77406	2.37	0.39699	D	0.971159	P	0.48998	0.918	P	0.52424	0.698	T	0.45673	-0.9245	10	0.45353	T	0.12	-23.5245	16.8222	0.85835	1.0:0.0:0.0:0.0	.	296	Q7L0Y3	MRRP1_HUMAN	S	296	ENSP00000312356:N296S;ENSP00000419389:N296S	ENSP00000312356:N296S	N	+	2	0	RG9MTD1	102767202	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.809000	0.69172	2.371000	0.80710	0.533000	0.62120	AAT		0.373	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		3	60	0	0	0	1	0	3	60				
CLSTN1	22883	broad.mit.edu	37	1	9815238	9815238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9815238G>A	ENST00000377298.4	-	4	1166	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CLSTN1_ENST00000377288.3_Missense_Mutation_p.S125L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S115L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	125	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGTGAATGAATAGTCTTT	0.463																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(373-375)tCa>tTa		calsyntenin 1							229.0	214.0	219.0					1																	9815238		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9815238G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.374C>T	1.37:g.9815238G>A	ENSP00000366513:p.Ser125Leu					CLSTN1_ENST00000377288.3_Missense_Mutation_p.S125L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S115L	p.S125L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	4	1166	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	125			Cadherin 1.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.374C>T	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669993	0.47677	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000377288;ENST00000539822	T;T;T	0.60424	0.19;0.19;0.19	5.62	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.145195	0.64402	D	0.000008	T	0.57829	0.2080	L	0.55017	1.72	0.38250	D	0.941562	B;B;B	0.23650	0.054;0.089;0.054	B;B;B	0.29862	0.05;0.108;0.05	T	0.61377	-0.7075	10	0.54805	T	0.06	-13.2758	17.0295	0.86457	0.0:0.1271:0.8729:0.0	.	125;115;125	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	L	125;115;125;125	ENSP00000366513:S125L;ENSP00000354997:S115L;ENSP00000366502:S125L	ENSP00000354997:S115L	S	-	2	0	CLSTN1	9737825	1.000000	0.71417	0.588000	0.28705	0.589000	0.36550	7.558000	0.82253	1.483000	0.48342	0.467000	0.42956	TCA		0.463	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			9	155	0	0	0	1	0	9	155				
C9orf131	138724	broad.mit.edu	37	9	35045619	35045619	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35045619G>T	ENST00000312292.5	+	2	3040	c.2993G>T	c.(2992-2994)aGc>aTc	p.S998I	C9orf131_ENST00000354479.5_Missense_Mutation_p.S925I|C9orf131_ENST00000421362.2_Missense_Mutation_p.S950I|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	998										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGGGCCAGAGCTCTCAACAC	0.582																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2992-2994)aGc>aTc		chromosome 9 open reading frame 131							90.0	87.0	88.0					9																	35045619		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045619G>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2993G>T	9.37:g.35045619G>T	ENSP00000308279:p.Ser998Ile					C9orf131_ENST00000421362.2_Missense_Mutation_p.S950I|C9orf131_ENST00000354479.5_Missense_Mutation_p.S925I	p.S998I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	3040	+	all_epithelial(49;0.22)		998					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2993G>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711054	0.48517	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.18016	2.25;2.24;2.26	4.49	1.33	0.21861	.	1.764680	0.02528	N	0.093306	T	0.18383	0.0441	L	0.32530	0.975	0.09310	N	1	P;P;P;P	0.45011	0.848;0.848;0.848;0.848	P;P;P;P	0.46718	0.525;0.525;0.525;0.525	T	0.12785	-1.0534	10	0.72032	D	0.01	12.8914	2.8053	0.05426	0.1037:0.1808:0.5296:0.1859	.	473;998;925;950	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	I	950;925;998;473	ENSP00000393683:S950I;ENSP00000346472:S925I;ENSP00000308279:S998I	ENSP00000308279:S998I	S	+	2	0	C9orf131	35035619	0.000000	0.05858	0.001000	0.08648	0.306000	0.27790	-0.697000	0.05098	0.480000	0.27534	0.563000	0.77884	AGC		0.582	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		33	41	1	0	9.17885e-22	1	1.20931e-21	33	41				
TMEM138	51524	broad.mit.edu	37	11	61135448	61135448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61135448G>A	ENST00000278826.6	+	4	913	c.354G>A	c.(352-354)atG>atA	p.M118I	TMEM138_ENST00000542946.1_3'UTR|TMEM138_ENST00000381787.2_Missense_Mutation_p.M60I	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	118					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACTTCAAATGCTGTTTGTAT	0.478																																						ENST00000278826.6																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(352-354)atG>atA		transmembrane protein 138							212.0	213.0	213.0					11																	61135448		2203	4299	6502	SO:0001583	missense	51524					integral to membrane		g.chr11:61135448G>A	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.354G>A	11.37:g.61135448G>A	ENSP00000278826:p.Met118Ile					TMEM138_ENST00000381787.2_Missense_Mutation_p.M60I|TMEM138_ENST00000542946.1_3'UTR	p.M118I	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN			4	913	+			118					A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	ENST00000278826.6	37	c.354G>A	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	G	5.603	0.296090	0.10622	.	.	ENSG00000149483	ENST00000278826;ENST00000381787	D;D	0.86627	-2.15;-2.15	5.91	-5.3	0.02738	.	0.197463	0.48767	D	0.000169	T	0.59074	0.2167	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58059	-0.7703	10	0.18710	T	0.47	-18.0204	7.0695	0.25171	0.6624:0.1235:0.1294:0.0846	.	118;118	B4E044;Q9NPI0	.;TM138_HUMAN	I	118;60	ENSP00000278826:M118I;ENSP00000371206:M60I	ENSP00000278826:M118I	M	+	3	0	TMEM138	60892024	0.000000	0.05858	0.176000	0.23000	0.657000	0.38888	-2.520000	0.00951	-0.700000	0.05070	-0.768000	0.03414	ATG		0.478	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464		55	258	0	0	0	1	0	55	258				
NOD2	64127	broad.mit.edu	37	16	50750880	50750880	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750880A>G	ENST00000300589.2	+	6	2730	c.2625A>G	c.(2623-2625)gcA>gcG	p.A875A		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	875					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTTCTTGGCATTGAGGTGAG	0.502																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2623-2625)gcA>gcG		nucleotide-binding oligomerization domain containing 2							156.0	149.0	151.0					16																	50750880		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50750880A>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2625A>G	16.37:g.50750880A>G							p.A875A	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			6	2730	+		all_cancers(37;0.0156)	875					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.2625A>G	CCDS10746.1																																																																																				0.502	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		10	106	0	0	0	1	0	10	106				
SBSPON	157869	broad.mit.edu	37	8	73982067	73982067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73982067C>T	ENST00000297354.6	-	4	854	c.650G>A	c.(649-651)tGt>tAt	p.C217Y	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	217					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										ATCTCCAGAACAACGAAGGCT	0.478																																						ENST00000297354.6																			0											c.(649-651)tGt>tAt		somatomedin B and thrombospondin, type 1 domain containing							96.0	98.0	97.0					8																	73982067		2020	4191	6211	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73982067C>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.650G>A	8.37:g.73982067C>T	ENSP00000297354:p.Cys217Tyr					SBSPON_ENST00000519697.1_5'UTR	p.C217Y	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			4	854	-			217					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.650G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481677	0.63849	.	.	ENSG00000164764	ENST00000297354	T	0.27104	1.69	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62253	-0.6893	10	0.87932	D	0	-5.0034	20.2159	0.98296	0.0:1.0:0.0:0.0	.	217	Q8IVN8	RPESP_HUMAN	Y	217	ENSP00000297354:C217Y	ENSP00000297354:C217Y	C	-	2	0	C8orf84	74144621	1.000000	0.71417	0.884000	0.34674	0.092000	0.18411	6.865000	0.75500	2.882000	0.98803	0.655000	0.94253	TGT		0.478	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		14	26	0	0	0	1	0	14	26				
CADPS	8618	broad.mit.edu	37	3	62484908	62484908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62484908G>A	ENST00000383710.4	-	18	2984	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	CADPS_ENST00000357948.3_Missense_Mutation_p.L856F|CADPS_ENST00000283269.9_Missense_Mutation_p.L896F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	879	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTATCTTCAAGCTTTTTGGCA	0.428																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2635-2637)Ctt>Ttt		Ca++-dependent secretion activator							156.0	138.0	144.0					3																	62484908		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62484908G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2635C>T	3.37:g.62484908G>A	ENSP00000373215:p.Leu879Phe					CADPS_ENST00000283269.9_Missense_Mutation_p.L896F|CADPS_ENST00000357948.3_Missense_Mutation_p.L856F	p.L879F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	18	2984	-		Lung SC(41;0.0452)	879			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2635C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.990913|3.990913	0.74703|0.74703	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.59364	.|0.28;0.31;0.27	5.89|5.89	5.89|5.89	0.94794|0.94794	.|Calcium-dependent secretion activator (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75968|0.75968	0.3922|0.3922	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.996;0.994;0.998;1.0	T|T	0.78107|0.78107	-0.2333|-0.2333	5|10	.|0.87932	.|D	.|0	.|.	13.8724|13.8724	0.63626|0.63626	0.0782:0.0:0.9218:0.0|0.0782:0.0:0.9218:0.0	.|.	.|856;896;879;879	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	V|F	185|879;879;856;896	.|ENSP00000373215:L879F;ENSP00000350632:L856F;ENSP00000283269:L896F	.|ENSP00000283269:L896F	A|L	-|-	2|1	0|0	CADPS|CADPS	62459948|62459948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.729000|6.729000	0.74775|0.74775	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GCT|CTT		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		21	25	0	0	0	1	0	21	25				
FAT4	79633	broad.mit.edu	37	4	126241177	126241177	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126241177A>C	ENST00000394329.3	+	1	3624	c.3611A>C	c.(3610-3612)aAt>aCt	p.N1204T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1204	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGATATAAATGATAATGCT	0.408																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3610-3612)aAt>aCt		FAT atypical cadherin 4							60.0	59.0	60.0					4																	126241177		1861	4102	5963	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241177A>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3611A>C	4.37:g.126241177A>C	ENSP00000377862:p.Asn1204Thr						p.N1204T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3624	+			1204			Cadherin 11.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3611A>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277815	0.59758	.	.	ENSG00000196159	ENST00000394329	T	0.75477	-0.94	4.86	4.86	0.63082	Cadherin (3);Cadherin-like (1);	0.000000	0.36482	U	0.002580	D	0.91005	0.7171	H	0.98111	4.15	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.94103	0.7364	10	0.72032	D	0.01	.	14.6075	0.68489	1.0:0.0:0.0:0.0	.	1204	Q6V0I7	FAT4_HUMAN	T	1204	ENSP00000377862:N1204T	ENSP00000377862:N1204T	N	+	2	0	FAT4	126460627	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	8.949000	0.93012	2.051000	0.60960	0.459000	0.35465	AAT		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	68	0	0	0	1	0	5	68				
PPP4R2	151987	broad.mit.edu	37	3	73096445	73096445	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73096445C>T	ENST00000356692.5	+	3	478	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PPP4R2_ENST00000295862.9_Silent_p.V19V|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	75					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		ACCCTAATGTCGAATATATTC	0.348																																						ENST00000356692.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.(223-225)gtC>gtT		protein phosphatase 4, regulatory subunit 2							49.0	54.0	52.0					3																	73096445		2203	4299	6502	SO:0001819	synonymous_variant	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73096445C>T	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.225C>T	3.37:g.73096445C>T						PPP4R2_ENST00000295862.9_Silent_p.V19V|PPP4R2_ENST00000394284.3_Intron	p.V75V			Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	3	478	+		Prostate(10;0.0187)|Lung SC(41;0.236)	75					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Silent	SNP	ENST00000356692.5	37	c.225C>T	CCDS2917.1																																																																																				0.348	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		13	22	0	0	0	1	0	13	22				
PI4KB	5298	broad.mit.edu	37	1	151288718	151288718	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151288718C>A	ENST00000368873.1	-	2	408	c.240G>T	c.(238-240)ggG>ggT	p.G80G	PI4KB_ENST00000368875.2_Silent_p.G92G|PI4KB_ENST00000368874.4_Silent_p.G80G|PI4KB_ENST00000271657.5_Silent_p.G92G|PI4KB_ENST00000368872.1_Silent_p.G80G|PI4KB_ENST00000529142.1_Intron			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	80	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CCACACCATCCCCATTGACCA	0.592																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(274-276)ggG>ggT		phosphatidylinositol 4-kinase, catalytic, beta							120.0	98.0	105.0					1																	151288718		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288718C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.240G>T	1.37:g.151288718C>A						PI4KB_ENST00000271657.5_Silent_p.G92G|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Silent_p.G80G|PI4KB_ENST00000368873.1_Silent_p.G80G|PI4KB_ENST00000368874.4_Silent_p.G80G	p.G92G	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	856	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		80					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.276G>T																																																																																					0.592	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		11	68	1	0	1.58986e-06	1	1.84011e-06	11	68				
TNRC6A	27327	broad.mit.edu	37	16	24801111	24801111	+	Missense_Mutation	SNP	C	C	A	rs544253401		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24801111C>A	ENST00000395799.3	+	6	1277	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P383H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	383	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTAAAAGGGCCTGTAGGGAGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		22001	0.0		0.0	False		,,,				2504	0.001					ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1147-1149)cCt>cAt		trinucleotide repeat containing 6A							81.0	88.0	86.0					16																	24801111		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801111C>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1148C>A	16.37:g.24801111C>A	ENSP00000379144:p.Pro383His					TNRC6A_ENST00000315183.7_Missense_Mutation_p.P383H	p.P383H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1277	+			383			Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1148C>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964619	0.53507	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11930	2.74;2.73	5.94	5.94	0.96194	.	0.192531	0.48767	D	0.000179	T	0.21674	0.0522	N	0.22421	0.69	0.80722	D	1	D;P;D	0.64830	0.963;0.956;0.994	P;P;P	0.54759	0.73;0.76;0.707	T	0.00480	-1.1714	10	0.66056	D	0.02	-9.6732	20.3594	0.98849	0.0:1.0:0.0:0.0	.	130;383;383	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	H	383	ENSP00000326900:P383H;ENSP00000379144:P383H	ENSP00000326900:P383H	P	+	2	0	TNRC6A	24708612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.175000	0.71949	2.816000	0.96949	0.563000	0.77884	CCT		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		10	58	1	0	0.00829132	1	0.00869385	10	58				
OR9Q2	219957	broad.mit.edu	37	11	57958284	57958284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958284G>A	ENST00000311591.3	+	1	379	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CACCTTCTTTGCCTCCATCGA	0.587																																						ENST00000311591.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(322-324)Gcc>Acc		olfactory receptor, family 9, subfamily Q, member 2							198.0	156.0	170.0					11																	57958284		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958284G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.322G>A	11.37:g.57958284G>A	ENSP00000308714:p.Ala108Thr						p.A108T	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	379	+		Breast(21;0.0589)	108						Missense_Mutation	SNP	ENST00000311591.3	37	c.322G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867331	0.72065	.	.	ENSG00000186513	ENST00000311591	T	0.01347	4.99	5.54	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.304501	0.23727	N	0.045179	T	0.02380	0.0073	L	0.43152	1.355	0.09310	N	1	P	0.48503	0.911	P	0.46685	0.524	T	0.43442	-0.9391	10	0.59425	D	0.04	-11.7388	11.12	0.48284	0.0:0.2035:0.6749:0.1216	.	108	Q8NGE9	OR9Q2_HUMAN	T	108	ENSP00000308714:A108T	ENSP00000308714:A108T	A	+	1	0	OR9Q2	57714860	0.004000	0.15560	0.986000	0.45419	0.976000	0.68499	1.451000	0.35145	1.471000	0.48121	0.655000	0.94253	GCC		0.587	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		28	80	0	0	0	1	0	28	80				
LHX1	3975	broad.mit.edu	37	17	35295511	35295511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35295511G>A	ENST00000254457.5	+	1	1428	c.17G>A	c.(16-18)gGc>gAc	p.G6D	RP11-445F12.1_ENST00000529264.1_RNA|RP11-445F12.1_ENST00000532387.2_RNA|RP11-445F12.1_ENST00000528383.1_RNA|RP11-445F12.1_ENST00000525111.1_RNA|RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	6	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACTGTGCCGGCTGCAAAAGG	0.562																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(16-18)gGc>gAc		LIM homeobox 1							87.0	81.0	83.0					17																	35295511		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35295511G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.17G>A	17.37:g.35295511G>A	ENSP00000254457:p.Gly6Asp						p.G6D	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			1	1428	+		Breast(25;0.00607)	6			LIM zinc-binding 1.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.17G>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702216	0.88924	.	.	ENSG00000132130	ENST00000254457	D	0.88509	-2.39	5.09	5.09	0.68999	Zinc finger, LIM-type (5);	0.000000	0.85682	U	0.000000	D	0.95258	0.8462	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.95866	0.8887	10	0.87932	D	0	.	17.6503	0.88162	0.0:0.0:1.0:0.0	.	6	P48742	LHX1_HUMAN	D	6	ENSP00000254457:G6D	ENSP00000254457:G6D	G	+	2	0	LHX1	32369624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.653000	0.90120	0.491000	0.48974	GGC		0.562	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		15	28	0	0	0	1	0	15	28				
TMPRSS6	164656	broad.mit.edu	37	22	37499319	37499319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37499319G>A	ENST00000346753.3	-	2	282	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	TMPRSS6_ENST00000442782.2_Silent_p.L56L|TMPRSS6_ENST00000406725.1_Silent_p.L47L|TMPRSS6_ENST00000381792.2_Silent_p.L47L|TMPRSS6_ENST00000406856.1_Silent_p.L47L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	56					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCACAAACAGGGGCACCAGG	0.652																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(139-141)Ctg>Ttg		transmembrane protease, serine 6							59.0	64.0	62.0					22																	37499319		2203	4300	6503	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499319G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.166C>T	22.37:g.37499319G>A						TMPRSS6_ENST00000406725.1_Silent_p.L47L|TMPRSS6_ENST00000442782.2_Silent_p.L56L|TMPRSS6_ENST00000346753.3_Silent_p.L56L|TMPRSS6_ENST00000406856.1_Silent_p.L47L	p.L47L			Q8IU80	TMPS6_HUMAN			2	279	-			56					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.139C>T	CCDS13941.1																																																																																				0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		19	39	0	0	0	1	0	19	39				
LRFN4	78999	broad.mit.edu	37	11	66625615	66625615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625615C>T	ENST00000309602.4	+	1	643	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R134C	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	134						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCAGCTGGGCCGCATCGCGCC	0.687																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(400-402)Cgc>Tgc		leucine rich repeat and fibronectin type III domain containing 4							46.0	52.0	50.0					11																	66625615		2200	4295	6495	SO:0001583	missense	78999					integral to membrane		g.chr11:66625615C>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.400C>T	11.37:g.66625615C>T	ENSP00000312535:p.Arg134Cys					PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R134C	p.R134C	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	643	+			134					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.400C>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552659	0.27739	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.58358	0.34;0.34	4.18	3.18	0.36537	.	0.141592	0.32987	N	0.005407	T	0.50684	0.1630	L	0.41079	1.255	0.46901	D	0.999249	D;P	0.53619	0.961;0.641	P;P	0.56788	0.806;0.631	T	0.47598	-0.9105	10	0.39692	T	0.17	.	4.6877	0.12765	0.2154:0.6722:0.0:0.1124	.	134;134	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	C	134	ENSP00000377524:R134C;ENSP00000312535:R134C	ENSP00000312535:R134C	R	+	1	0	LRFN4	66382191	0.000000	0.05858	1.000000	0.80357	0.133000	0.20885	0.460000	0.21924	2.320000	0.78422	0.313000	0.20887	CGC		0.687	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		24	39	0	0	0	1	0	24	39				
KLHL6	89857	broad.mit.edu	37	3	183209811	183209811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183209811G>A	ENST00000341319.3	-	7	1805	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	590					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGGCAGGACGCACTCCTCTG	0.652																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1768-1770)tgC>tgT		kelch-like family member 6							94.0	89.0	91.0					3																	183209811		2203	4300	6503	SO:0001819	synonymous_variant	89857							g.chr3:183209811G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1770C>T	3.37:g.183209811G>A							p.C590C	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1805	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		590					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1770C>T	CCDS3245.2																																																																																				0.652	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		30	47	0	0	0	1	0	30	47				
MORC4	79710	broad.mit.edu	37	X	106185816	106185816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106185816G>T	ENST00000355610.4	-	15	2579	c.2305C>A	c.(2305-2307)Ctg>Atg	p.L769M	MORC4_ENST00000535534.1_Missense_Mutation_p.L517M|MORC4_ENST00000255495.7_Missense_Mutation_p.L769M	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	769						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AATTCTTCCAGCTCTCTCTGG	0.458																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2305-2307)Ctg>Atg		MORC family CW-type zinc finger 4							159.0	149.0	153.0					X																	106185816		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106185816G>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2305C>A	X.37:g.106185816G>T	ENSP00000347821:p.Leu769Met					MORC4_ENST00000535534.1_Missense_Mutation_p.L517M|MORC4_ENST00000255495.7_Missense_Mutation_p.L769M	p.L769M	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			15	2579	-			769					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.2305C>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	g	14.78	2.637999	0.47153	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.39056	2.46;1.1;2.36	5.18	3.38	0.38709	.	0.292616	0.18407	N	0.142174	T	0.47322	0.1439	L	0.47716	1.5	0.22066	N	0.999384	D;D;D	0.64830	0.994;0.989;0.979	P;P;P	0.58077	0.832;0.726;0.642	T	0.27938	-1.0059	10	0.46703	T	0.11	-1.5273	7.1069	0.25368	0.2192:0.0:0.7808:0.0	.	517;769;769	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	M	769;517;769	ENSP00000347821:L769M;ENSP00000440359:L517M;ENSP00000255495:L769M	ENSP00000255495:L769M	L	-	1	2	MORC4	106072472	0.997000	0.39634	0.981000	0.43875	0.972000	0.66771	0.687000	0.25407	0.491000	0.27793	0.597000	0.82753	CTG		0.458	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		14	168	1	0	4.36969e-10	1	5.35656e-10	14	168				
PTAR1	375743	broad.mit.edu	37	9	72338485	72338485	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72338485C>A	ENST00000340434.4	-	6	707	c.704G>T	c.(703-705)aGt>aTt	p.S235I	PTAR1_ENST00000377200.5_Missense_Mutation_p.S156I	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	235					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGAAATCCACTGTGGTCTGA	0.398																																						ENST00000377200.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(466-468)aGt>aTt		protein prenyltransferase alpha subunit repeat containing 1							98.0	93.0	94.0					9																	72338485		1852	4113	5965	SO:0001583	missense	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72338485C>A	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.704G>T	9.37:g.72338485C>A	ENSP00000344299:p.Ser235Ile					PTAR1_ENST00000340434.4_Missense_Mutation_p.S235I	p.S156I			Q7Z6K3	PTAR1_HUMAN			4	469	-			235					Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	c.467G>T	CCDS47978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762027|4.762027	0.89932|0.89932	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000415701|ENST00000377200;ENST00000340434	.|T;T	.|0.61510	.|0.1;0.1	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Protein prenyltransferase (1);	.|0.037320	.|0.85682	.|D	.|0.000000	T|T	0.76521|0.76521	0.3999|0.3999	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.77130|0.77130	-0.2701|-0.2701	5|10	.|0.87932	.|D	.|0	.|.	20.181|20.181	0.98201|0.98201	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235	.|Q7Z6K3	.|PTAR1_HUMAN	H|I	1|156;235	.|ENSP00000366405:S156I;ENSP00000344299:S235I	.|ENSP00000344299:S235I	Q|S	-|-	3|2	2|0	PTAR1|PTAR1	71528305|71528305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	7.741000|7.741000	0.84997|0.84997	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.398	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		21	65	1	0	1.50039e-11	1	1.87199e-11	21	65				
HARBI1	283254	broad.mit.edu	37	11	46637623	46637623	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637623C>T	ENST00000326737.3	-	2	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000312040.4_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	55						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAGAAAGATTCGCCCCCAAGA	0.483																																						ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(163-165)gcG>gcA		harbinger transposase derived 1							56.0	57.0	56.0					11																	46637623		2201	4299	6500	SO:0001819	synonymous_variant	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637623C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.165G>A	11.37:g.46637623C>T							p.A55A	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			2	412	-			55					D3DQP9	Silent	SNP	ENST00000326737.3	37	c.165G>A	CCDS7920.1																																																																																				0.483	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		18	31	0	0	0	1	0	18	31				
TAF1	6872	broad.mit.edu	37	X	70627487	70627487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627487G>A	ENST00000373790.4	+	27	4219	c.4168G>A	c.(4168-4170)Gag>Aag	p.E1390K	TAF1_ENST00000423759.1_Missense_Mutation_p.E1411K|TAF1_ENST00000449580.1_Missense_Mutation_p.E1390K|TAF1_ENST00000276072.3_Missense_Mutation_p.E1411K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1390	Interaction with ASF1A and ASF1B.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCCATCTTGGAGTCTATCAT	0.453																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4168-4170)Gag>Aag		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							130.0	111.0	118.0					X																	70627487		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70627487G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4168G>A	X.37:g.70627487G>A	ENSP00000362895:p.Glu1390Lys					TAF1_ENST00000276072.3_Missense_Mutation_p.E1411K|TAF1_ENST00000373790.4_Missense_Mutation_p.E1390K|TAF1_ENST00000423759.1_Missense_Mutation_p.E1411K	p.E1390K			P21675	TAF1_HUMAN			27	4219	+	Renal(35;0.156)	all_lung(315;0.000321)	1390			Interaction with ASF1A and ASF1B.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4168G>A	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	31|31	5.081419|5.081419	0.94050|0.94050	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000463163;ENST00000437147	T;T;T;T|.	0.31510|.	1.49;1.49;1.49;1.49|.	4.95|4.95	4.95|4.95	0.65309|0.65309	Bromodomain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71434|.	0.3339|.	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	B;P;P|.	0.47484|.	0.325;0.896;0.77|.	B;P;B|.	0.50590|.	0.198;0.645;0.33|.	T|.	0.70274|.	-0.4917|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.4533|17.4533	0.87599|0.87599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1390;1390;1411|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	K|X	1390;1390;1411;96;96;1411|55;44	ENSP00000362895:E1390K;ENSP00000389000:E1390K;ENSP00000406549:E1411K;ENSP00000276072:E1411K|.	ENSP00000276072:E1411K|.	E|W	+|+	1|3	0|0	TAF1|TAF1	70544212|70544212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.259000|9.259000	0.95561|0.95561	2.305000|2.305000	0.77605|0.77605	0.462000|0.462000	0.41574|0.41574	GAG|TGG		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		17	41	0	0	0	1	0	17	41				
DNAJB5	25822	broad.mit.edu	37	9	34996478	34996478	+	Missense_Mutation	SNP	G	G	A	rs35837382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996478G>A	ENST00000541010.1	+	2	3440	c.428G>A	c.(427-429)cGt>cAt	p.R143H	DNAJB5_ENST00000454002.2_Missense_Mutation_p.R215H|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R257H|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R143H|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R177H|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R143H			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	143					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)			GCTTTCGGCCGTTTTGGCTTC	0.602																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(427-429)cGt>cAt		DnaJ (Hsp40) homolog, subfamily B, member 5		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	67.0	67.0		770,644,428	5.1	1.0	9	dbSNP_126	67	0,8600		0,0,4300	no	missense,missense,missense	DNAJB5	NM_001135004.2,NM_001135005.2,NM_012266.5	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	257/463,215/421,143/349	34996478	1,13005	2203	4300	6503	SO:0001583	missense	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996478G>A	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.428G>A	9.37:g.34996478G>A	ENSP00000443151:p.Arg143His					DNAJB5_ENST00000545841.1_Missense_Mutation_p.R143H|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R257H|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R177H|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R143H|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R215H	p.R143H			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	3440	+			143					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	c.428G>A	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205927	0.09704	2.27E-4	0.0	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841;ENST00000539059;ENST00000443266	T;T;T;T;T;T;T;T	0.68903	0.44;0.47;0.31;0.31;0.45;0.31;-0.36;-0.35	5.11	5.11	0.69529	.	0.420004	0.28760	N	0.014234	T	0.47414	0.1444	N	0.04297	-0.235	0.49130	D	0.999757	B;B	0.16396	0.017;0.006	B;B	0.08055	0.003;0.003	T	0.41680	-0.9495	10	0.44086	T	0.13	.	18.073	0.89417	0.0:0.0:1.0:0.0	rs35837382	215;143	B4DSA6;O75953	.;DNJB5_HUMAN	H	257;177;143;143;143;215;143;179;143	ENSP00000404079:R257H;ENSP00000337626:R177H;ENSP00000312517:R143H;ENSP00000443151:R143H;ENSP00000413684:R215H;ENSP00000441999:R143H;ENSP00000445536:R179H;ENSP00000396332:R143H	ENSP00000312517:R143H	R	+	2	0	DNAJB5	34986478	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.910000	0.56371	2.826000	0.97356	0.561000	0.74099	CGT		0.602	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			16	18	0	0	0	1	0	16	18				
MUC2	4583	broad.mit.edu	37	11	1099269	1099269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1099269G>A	ENST00000441003.2	+	38	7275	c.7248G>A	c.(7246-7248)acG>acA	p.T2416T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4778					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AAGAGCCCACGTGCAAATCCA	0.617																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7246-7248)acG>acA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						75.0	85.0	82.0					11																	1099269		2072	4188	6260	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1099269G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7248G>A	11.37:g.1099269G>A							p.T2416T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	38	7275	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4778					Q14878	Silent	SNP	ENST00000441003.2	37	c.7248G>A																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		15	45	0	0	0	1	0	15	45				
CNGB1	1258	broad.mit.edu	37	16	57951325	57951325	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57951325A>G	ENST00000251102.8	-	21	2073	c.2013T>C	c.(2011-2013)tgT>tgC	p.C671C	CNGB1_ENST00000564448.1_Silent_p.C665C	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	671					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAATCAGCCAACAGTTCCAAT	0.567																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1993-1995)tgT>tgC		cyclic nucleotide gated channel beta 1							121.0	126.0	125.0					16																	57951325		2109	4219	6328	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57951325A>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2013T>C	16.37:g.57951325A>G						CNGB1_ENST00000251102.8_Silent_p.C671C	p.C665C			Q14028	CNGB1_HUMAN			21	2055	-			671					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.1995T>C	CCDS42169.1																																																																																				0.567	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		4	85	0	0	0	1	0	4	85				
TBC1D2	55357	broad.mit.edu	37	9	100961731	100961731	+	Missense_Mutation	SNP	G	G	A	rs201119281	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961731G>A	ENST00000375066.5	-	13	2777	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R689W|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R447W|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	907					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGGATGCCCGCCTCTCCAGG	0.682													G|||	7	0.00139776	0.0	0.0	5008	,	,		17470	0.0		0.0	False		,,,				2504	0.0072					ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2686-2688)Cgg>Tgg		TBC1 domain family, member 2		G	TRP/ARG	0,4406		0,0,2203	80.0	84.0	83.0		2686	-3.8	0.0	9		83	5,8593	4.3+/-15.6	0,5,4294	yes	missense	TBC1D2	NM_018421.3	101	0,5,6497	AA,AG,GG		0.0582,0.0,0.0384	probably-damaging	896/918	100961731	5,12999	2203	4299	6502	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961731G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2686C>T	9.37:g.100961731G>A	ENSP00000364207:p.Arg896Trp					TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R689W|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R447W	p.R896W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2777	-		Myeloproliferative disorder(762;0.0255)	907					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2686C>T	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558029	0.65538	0.0	5.82E-4	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.12361	2.69;3.16;2.88	5.51	-3.81	0.04294	.	0.430211	0.22718	N	0.056489	T	0.13286	0.0322	M	0.73217	2.22	0.09310	N	1	B;P	0.35982	0.396;0.531	B;B	0.31495	0.062;0.131	T	0.17349	-1.0372	10	0.87932	D	0	.	12.1913	0.54273	0.0641:0.0:0.3905:0.5455	.	907;896	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	896;689;447	ENSP00000364207:R896W;ENSP00000341567:R689W;ENSP00000364203:R447W	ENSP00000341567:R689W	R	-	1	2	TBC1D2	100001552	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.033000	0.12246	-0.443000	0.07180	-0.292000	0.09595	CGG		0.682	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		66	91	0	0	0	1	0	66	91				
DMD	1756	broad.mit.edu	37	X	31986618	31986618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31986618C>T	ENST00000357033.4	-	45	6658	c.6452G>A	c.(6451-6453)gGc>gAc	p.G2151D	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.G2147D|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2151					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCAATGCCATCCTGGAG	0.398																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6451-6453)gGc>gAc		dystrophin							60.0	53.0	56.0					X																	31986618		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986618C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6452G>A	X.37:g.31986618C>T	ENSP00000354923:p.Gly2151Asp					DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.G2147D	p.G2151D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			45	6658	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2151					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6452G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880532	0.51801	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.28069	1.63;1.63	5.37	4.5	0.54988	.	0.000000	0.35708	U	0.003025	T	0.46034	0.1372	L	0.54323	1.7	0.80722	D	1	D;B;D;B;D;B	0.76494	0.999;0.087;0.959;0.107;0.972;0.107	D;B;P;B;P;B	0.69479	0.964;0.058;0.718;0.096;0.895;0.066	T	0.27331	-1.0077	10	0.18710	T	0.47	.	13.1348	0.59403	0.0:0.9208:0.0:0.0792	.	810;2143;2151;2147;810;807	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	D	2143;810;807;2147;2151;2151;2028	ENSP00000367948:G2147D;ENSP00000354923:G2151D	ENSP00000354923:G2151D	G	-	2	0	DMD	31896539	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.034000	0.49751	1.036000	0.39998	0.538000	0.68166	GGC		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	38	0	0	0	1	0	6	38				
LRRC14B	389257	broad.mit.edu	37	5	195094	195094	+	Missense_Mutation	SNP	C	C	T	rs372575884		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:195094C>T	ENST00000328278.3	+	2	1199	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	391										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCACCGGCTGCGCCAGCTCAA	0.672																																						ENST00000328278.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						c.(1171-1173)Cgc>Tgc		leucine rich repeat containing 14B		C	CYS/ARG	0,4166		0,0,2083	20.0	25.0	23.0		1171	3.8	0.0	5		23	1,8403		0,1,4201	no	missense	LRRC14B	NM_001080478.1	180	0,1,6284	TT,TC,CC		0.0119,0.0,0.0080	benign	391/515	195094	1,12569	2083	4202	6285	SO:0001583	missense	389257							g.chr5:195094C>T		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1171C>T	5.37:g.195094C>T	ENSP00000327675:p.Arg391Cys						p.R391C	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN			2	1199	+			391						Missense_Mutation	SNP	ENST00000328278.3	37	c.1171C>T	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325121	0.24080	0.0	1.19E-4	ENSG00000185028	ENST00000328278	T	0.11712	2.75	5.65	3.82	0.43975	.	0.403365	0.28706	N	0.014420	T	0.09379	0.0231	L	0.39245	1.2	0.32583	N	0.528269	B	0.16396	0.017	B	0.10450	0.005	T	0.05716	-1.0868	10	0.45353	T	0.12	.	8.1665	0.31230	0.1556:0.7584:0.0:0.0859	.	391	A6NHZ5	LR14B_HUMAN	C	391	ENSP00000327675:R391C	ENSP00000327675:R391C	R	+	1	0	LRRC14B	248094	0.078000	0.21339	0.044000	0.18714	0.263000	0.26337	0.457000	0.21875	0.702000	0.31825	0.561000	0.74099	CGC		0.672	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		8	8	0	0	0	1	0	8	8				
GRIK1	2897	broad.mit.edu	37	21	30925998	30925998	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30925998A>G	ENST00000399907.1	-	17	3046	c.2635T>C	c.(2635-2637)Tgt>Cgt	p.C879R	GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.C864R|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.C881R	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	879					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTTTGCTTACATTGCAGTCCA	0.333																																						ENST00000399907.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2635-2637)Tgt>Cgt		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						129.0	131.0	130.0					21																	30925998		1811	4085	5896	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30925998A>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2635T>C	21.37:g.30925998A>G	ENSP00000382791:p.Cys879Arg					GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.C864R|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.C881R|GRIK1_ENST00000399914.1_Intron	p.C879R	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN			17	3046	-			879					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2635T>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	A	9.019	0.984358	0.18889	.	.	ENSG00000171189	ENST00000399907;ENST00000399909;ENST00000309434	T;T;T	0.10860	2.83;2.83;2.83	5.4	5.4	0.78164	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.45227	D	0.998233	B	0.19583	0.037	B	0.14578	0.011	T	0.32666	-0.9898	9	0.46703	T	0.11	.	10.4928	0.44760	0.8552:0.0:0.0:0.1448	.	879	P39086	GRIK1_HUMAN	R	879;864;881	ENSP00000382791:C879R;ENSP00000382793:C864R;ENSP00000311646:C881R	ENSP00000311646:C881R	C	-	1	0	GRIK1	29847869	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	3.429000	0.52800	2.263000	0.75096	0.533000	0.62120	TGT		0.333	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			13	143	0	0	0	1	0	13	143				
PTPN11	5781	broad.mit.edu	37	12	112926872	112926872	+	Missense_Mutation	SNP	C	C	T	rs397507541		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926872C>T	ENST00000351677.2	+	13	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	502	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAGATGGTGCGGTCTCAGAG	0.458			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM041072	PTPN11	M		c.(1492-1494)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 11							171.0	158.0	163.0					12																	112926872		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926872C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1492C>T	12.37:g.112926872C>T	ENSP00000340944:p.Arg498Trp						p.R498W	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			13	1690	+			502			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1492C>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543773	0.86022	.	.	ENSG00000179295	ENST00000351677	D	0.91631	-2.88	5.13	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	H	0.99859	4.855	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.97933	1.0321	10	0.87932	D	0	.	12.8197	0.57685	0.2784:0.7216:0.0:0.0	.	498	Q06124-2	.	W	498	ENSP00000340944:R498W	ENSP00000340944:R498W	R	+	1	2	PTPN11	111411255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.816000	0.48026	2.553000	0.86117	0.650000	0.86243	CGG		0.458	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			60	107	0	0	0	1	0	60	107				
FBN3	84467	broad.mit.edu	37	19	8152081	8152081	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8152081C>T	ENST00000600128.1	-	54	7048	c.6634G>A	c.(6634-6636)Gca>Aca	p.A2212T	FBN3_ENST00000601739.1_Missense_Mutation_p.A2212T|FBN3_ENST00000270509.2_Missense_Mutation_p.A2212T			Q75N90	FBN3_HUMAN	fibrillin 3	2212	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACCATCTGCACACTCGTCC	0.632																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6634-6636)Gca>Aca		fibrillin 3							83.0	71.0	75.0					19																	8152081		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152081C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6634G>A	19.37:g.8152081C>T	ENSP00000470498:p.Ala2212Thr					FBN3_ENST00000270509.2_Missense_Mutation_p.A2212T|FBN3_ENST00000601739.1_Missense_Mutation_p.A2212T	p.A2212T			Q75N90	FBN3_HUMAN			54	7048	-			2212			EGF-like 36; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6634G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456199	0.43634	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87256	-2.23	3.71	2.64	0.31445	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.211117	0.38897	U	0.001521	D	0.87787	0.6265	L	0.35542	1.07	0.41839	D	0.99011	D;P	0.71674	0.998;0.886	D;B	0.71870	0.975;0.398	D	0.86104	0.1558	10	0.34782	T	0.22	.	12.002	0.53237	0.0:0.9073:0.0:0.0927	.	2212;318	Q75N90;Q6ZNB8	FBN3_HUMAN;.	T	2212;318	ENSP00000270509:A2212T	ENSP00000270509:A2212T	A	-	1	0	FBN3	8058081	0.953000	0.32496	0.971000	0.41717	0.230000	0.25150	1.665000	0.37449	1.791000	0.52520	0.407000	0.27541	GCA		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		18	30	0	0	0	1	0	18	30				
APOA1BP	128240	broad.mit.edu	37	1	156562167	156562167	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156562167C>A	ENST00000368235.3	+	3	345	c.302C>A	c.(301-303)cCc>cAc	p.P101H	APOA1BP_ENST00000368233.3_Missense_Mutation_p.P101H|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Missense_Mutation_p.P101H	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCATATCCCCCCACGTCCATG	0.577																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(301-303)cCc>cAc		apolipoprotein A-I binding protein							78.0	79.0	79.0					1																	156562167		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156562167C>A	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.302C>A	1.37:g.156562167C>A	ENSP00000357218:p.Pro101His					APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Missense_Mutation_p.P101H|APOA1BP_ENST00000368234.3_Missense_Mutation_p.P101H	p.P101H	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			3	345	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		101			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.302C>A	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186018	0.57909	.	.	ENSG00000163382	ENST00000446584;ENST00000368234;ENST00000368235;ENST00000368233	T;T;T	0.42900	0.96;0.96;0.96	4.27	2.21	0.28008	YjeF-related protein, N-terminal (5);	0.392365	0.24152	N	0.041073	T	0.35038	0.0918	L	0.60455	1.87	0.09310	N	1	D;P;D	0.61080	0.989;0.943;0.981	P;P;P	0.61003	0.882;0.695;0.634	T	0.06844	-1.0804	10	0.45353	T	0.12	-4.7808	4.5469	0.12085	0.1901:0.62:0.0:0.1899	.	101;101;101	Q5T3I3;Q8NCW5;Q5T3I4	.;AIBP_HUMAN;.	H	119;101;101;101	ENSP00000357217:P101H;ENSP00000357218:P101H;ENSP00000357216:P101H	ENSP00000357216:P101H	P	+	2	0	APOA1BP	154828791	0.165000	0.22948	0.816000	0.32577	0.962000	0.63368	3.055000	0.49916	2.083000	0.62718	0.655000	0.94253	CCC		0.577	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		5	61	1	0	0.184627	1	0.186383	5	61				
SNURF	8926	broad.mit.edu	37	15	25225108	25225108	+	3'UTR	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25225108C>A	ENST00000551312.2	+	0	398				SNHG14_ENST00000551631.2_RNA|SNHG14_ENST00000459433.1_RNA|SNHG14_ENST00000551361.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AGCATTTCTCCTTGCATTGGT	0.368																																						ENST00000551631.2																			0																				18.0	17.0	17.0					15																	25225108		876	1990	2866	SO:0001624	3_prime_UTR_variant	0							g.chr15:25225108C>A		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.*167C>A	15.37:g.25225108C>A								NR_001293.1						0	101	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1	.	.	.	.	.	.	.	.	.	.	C	5.992	0.366896	0.11352	.	.	ENSG00000214265	ENST00000346403	.	.	.	2.05	0.0631	0.14347	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38607	-0.9653	5	0.87932	D	0	.	4.308	0.10956	0.0:0.6288:0.0:0.3712	.	.	.	.	I	93	.	ENSP00000306223:L93I	L	+	1	0	SNURF	22776201	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-0.663000	0.05299	0.021000	0.15133	0.561000	0.74099	CTT		0.368	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		7	6	1	0	2.0095e-06	1	2.31757e-06	7	6				
ZBTB46	140685	broad.mit.edu	37	20	62378406	62378406	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62378406G>A	ENST00000245663.4	-	5	1797	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	ZBTB46_ENST00000395104.1_Silent_p.G549G|ZBTB46_ENST00000302995.2_Silent_p.G549G|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	549					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTCGTCCTCGCCCAGCTCCT	0.726																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1645-1647)ggC>ggT		zinc finger and BTB domain containing 46							30.0	30.0	30.0					20																	62378406		2201	4290	6491	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62378406G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1647C>T	20.37:g.62378406G>A						ZBTB46_ENST00000302995.2_Silent_p.G549G|ZBTB46_ENST00000395104.1_Silent_p.G549G	p.G549G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			5	1797	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		549					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.1647C>T	CCDS13538.1																																																																																				0.726	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		13	23	0	0	0	1	0	13	23				
HGF	3082	broad.mit.edu	37	7	81392043	81392043	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81392043T>C	ENST00000222390.5	-	2	460	c.234A>G	c.(232-234)aaA>aaG	p.K78K	HGF_ENST00000354224.6_Silent_p.K78K|HGF_ENST00000457544.2_Silent_p.K78K|HGF_ENST00000423064.2_Silent_p.K78K|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000453411.1_Silent_p.K78K|HGF_ENST00000444829.2_Silent_p.K78K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	78	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.			K -> N (in Ref. 2; CAA34387). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGGAAGTCCTTTATTCCTAG	0.323																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(232-234)aaA>aaG		hepatocyte growth factor (hepapoietin A; scatter factor)							190.0	173.0	179.0					7																	81392043		2203	4298	6501	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81392043T>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.234A>G	7.37:g.81392043T>C						HGF_ENST00000444829.2_Silent_p.K78K|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000354224.6_Silent_p.K78K|HGF_ENST00000423064.2_Silent_p.K78K|HGF_ENST00000457544.2_Silent_p.K78K|HGF_ENST00000453411.1_Silent_p.K78K	p.K78K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			2	460	-			78	K -> N (in Ref. 2; CAA34387).		PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.234A>G	CCDS5597.1																																																																																				0.323	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		4	141	0	0	0	1	0	4	141				
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000543339.1_Missense_Mutation_p.R258I|GPC3_ENST00000394299.2_Missense_Mutation_p.R312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(934-936)aGa>aTa		glypican 3							563.0	362.0	430.0					X																	132887606		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887606C>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.935G>T	X.37:g.132887606C>A	ENSP00000359854:p.Arg312Ile					GPC3_ENST00000543339.1_Missense_Mutation_p.R258I|GPC3_ENST00000394299.2_Missense_Mutation_p.R312I	p.R312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	1380	-	Acute lymphoblastic leukemia(192;0.000127)		312					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.935G>T	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.698680|2.698680	0.48307|0.48307	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.053546	.|0.85682	.|D	.|0.000000	.|T	.|0.46833	.|0.1413	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P;P;P	.|0.39282	.|0.666;0.615;0.489;0.666	.|B;B;P;B	.|0.46629	.|0.149;0.388;0.522;0.149	.|T	.|0.50056	.|-0.8872	.|10	.|0.66056	.|D	.|0.02	.|.	17.6993|17.6993	0.88290|0.88290	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|296;258;312;312	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	X|I	42|312;312;258	.|ENSP00000359854:R312I;ENSP00000377836:R312I;ENSP00000444222:R258I	.|ENSP00000359854:R312I	E|R	-|-	1|2	0|0	GPC3|GPC3	132715272|132715272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.426000|7.426000	0.80270|0.80270	2.397000|2.397000	0.81536|0.81536	0.594000|0.594000	0.82650|0.82650	GAA|AGA		0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		12	136	1	0	0.00010058	1	0.000111121	12	136				
RHD	6007	broad.mit.edu	37	1	25611236	25611236	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25611236C>A	ENST00000328664.4	+	2	476	c.321C>A	c.(319-321)gtC>gtA	p.V107V	RHD_ENST00000357542.4_Silent_p.V107V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Silent_p.V107V|RHD_ENST00000454452.2_Silent_p.V107V|RHD_ENST00000417538.2_Silent_p.V107V|RHD_ENST00000342055.5_Silent_p.V107V|RHD_ENST00000568195.1_Silent_p.V107V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	107						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAAGGTGGTCATCACACTGT	0.557																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(319-321)gtC>gtA		Rh blood group, D antigen							90.0	86.0	87.0					1																	25611236		2132	3729	5861	SO:0001819	synonymous_variant	6007					integral to plasma membrane		g.chr1:25611236C>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.321C>A	1.37:g.25611236C>A						RHD_ENST00000342055.5_Silent_p.V107V|RHD_ENST00000417538.2_Silent_p.V107V|RHD_ENST00000568195.1_Silent_p.V107V|RHD_ENST00000423810.2_Silent_p.V107V|RHD_ENST00000454452.2_Silent_p.V107V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Silent_p.V107V	p.V107V	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	476	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	107					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	c.321C>A	CCDS262.1																																																																																				0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		7	22	1	0	1	1	1	7	22				
SULT2A1	6822	broad.mit.edu	37	19	48389603	48389603	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389603G>T	ENST00000222002.3	-	0	51					NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AGCTTTTACAGCAAGGATAAA	0.453																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20								sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1																																						6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48389603G>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.-89C>A	19.37:g.48389603G>T								NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	0	51	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)							Translation_Start_Site	SNP	ENST00000222002.3	37		CCDS12707.1																																																																																				0.453	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		11	17	1	0	9.70103e-10	1	1.18443e-09	11	17				
GJD4	219770	broad.mit.edu	37	10	35896773	35896773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35896773G>A	ENST00000321660.1	+	2	490	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	111					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCGCCGCTGCCCCGACCCC	0.746																																						ENST00000321660.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(331-333)tGc>tAc		gap junction protein, delta 4, 40.1kDa							15.0	17.0	16.0					10																	35896773		2133	4156	6289	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35896773G>A	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.332G>A	10.37:g.35896773G>A	ENSP00000315070:p.Cys111Tyr						p.C111Y	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN			2	490	+			111					Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.332G>A	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.851167	0.02651	.	.	ENSG00000177291	ENST00000321660	D	0.97665	-4.48	4.75	2.77	0.32553	.	.	.	.	.	D	0.91540	0.7328	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	D	0.84504	0.0618	9	0.49607	T	0.09	.	6.8786	0.24160	0.3199:0.0:0.6801:0.0	.	111	Q96KN9	CXD4_HUMAN	Y	111	ENSP00000315070:C111Y	ENSP00000315070:C111Y	C	+	2	0	GJD4	35936779	0.001000	0.12720	0.013000	0.15412	0.054000	0.15201	0.715000	0.25822	0.602000	0.29896	0.591000	0.81541	TGC		0.746	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		5	4	0	0	0	1	0	5	4				
GPR143	4935	broad.mit.edu	37	X	9716629	9716629	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9716629T>G	ENST00000467482.1	-	4	679	c.533A>C	c.(532-534)tAc>tCc	p.Y178S	GPR143_ENST00000380929.2_Missense_Mutation_p.Y198S			P51810	GP143_HUMAN	G protein-coupled receptor 143	178					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CACGGAAGGGTAGTAGAGCAT	0.597																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(532-534)tAc>tCc		G protein-coupled receptor 143							62.0	45.0	51.0					X																	9716629		2203	4299	6502	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9716629T>G	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.533A>C	X.37:g.9716629T>G	ENSP00000417161:p.Tyr178Ser					GPR143_ENST00000380929.2_Missense_Mutation_p.Y198S	p.Y178S			P51810	GP143_HUMAN			4	679	-		Hepatocellular(5;0.000888)	178					Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.533A>C	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	t	16.08	3.021030	0.54576	.	.	ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126	D;D;D	0.99413	-5.86;-5.86;-5.86	4.56	1.89	0.25635	.	0.193352	0.46442	N	0.000283	D	0.98905	0.9629	M	0.74881	2.28	0.44908	D	0.997921	D	0.56287	0.975	P	0.55455	0.776	D	0.97442	1.0022	10	0.42905	T	0.14	-8.9822	6.1344	0.20223	0.1626:0.0:0.1659:0.6714	.	178	P51810	GP143_HUMAN	S	178;198;94	ENSP00000417161:Y178S;ENSP00000370316:Y198S;ENSP00000406138:Y94S	ENSP00000370316:Y198S	Y	-	2	0	GPR143	9676629	1.000000	0.71417	0.520000	0.27837	0.685000	0.39939	4.570000	0.60872	0.047000	0.15862	0.414000	0.27820	TAC		0.597	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		3	37	0	0	0	1	0	3	37				
TRBV4-1	28617	broad.mit.edu	37	7	142013476	142013476	+	RNA	SNP	G	G	A	rs568924557		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142013476G>A	ENST00000390357.3	+	0	360									T cell receptor beta variable 4-1																		GTATCTCTGCGCCAGCAGCCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		13360	0.001		0.0	False		,,,				2504	0.0					ENST00000390357.3																			0																				67.0	74.0	72.0					7																	142013476		1912	4122	6034			0							g.chr7:142013476G>A	U07977		7q34	2012-02-07			ENSG00000211710	ENSG00000211710		"""T cell receptors / TRB locus"""	12215	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV41, TCRBV4S1, TCRBV7S1A1N2T, BV07S1J2.7			OTTHUMG00000158522		7.37:g.142013476G>A														0	360	+									RNA	SNP	ENST00000390357.3	37																																																																																						0.597	TRBV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351228.2	NG_001333		60	56	0	0	0	1	0	60	56				
C1RL	51279	broad.mit.edu	37	12	7249462	7249462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7249462T>C	ENST00000266542.4	-	6	1081	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	330	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACTCATTCTGACGGTAGTC	0.582																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(988-990)cAg>cGg		complement component 1, r subcomponent-like							162.0	128.0	139.0					12																	7249462		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249462T>C	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.989A>G	12.37:g.7249462T>C	ENSP00000266542:p.Gln330Arg					C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	p.Q330R	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			6	1081	-			330			Peptidase S1.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.989A>G	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103039	0.37145	.	.	ENSG00000139178	ENST00000266542;ENST00000396661	D	0.88664	-2.41	4.98	-0.91	0.10511	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.463445	0.21575	N	0.072358	D	0.87334	0.6151	N	0.21583	0.68	0.09310	N	0.999998	D	0.62365	0.991	D	0.67725	0.953	T	0.80439	-0.1382	10	0.15066	T	0.55	.	14.7302	0.69374	0.0:0.0:0.5314:0.4686	.	330	Q9NZP8	C1RL_HUMAN	R	330	ENSP00000266542:Q330R	ENSP00000266542:Q330R	Q	-	2	0	C1RL	7140604	0.000000	0.05858	0.003000	0.11579	0.697000	0.40408	-0.325000	0.07976	-0.003000	0.14444	0.418000	0.28097	CAG		0.582	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		27	32	0	0	0	1	0	27	32				
PLCH1	23007	broad.mit.edu	37	3	155215116	155215116	+	Silent	SNP	C	C	A	rs199889222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155215116C>A	ENST00000340059.7	-	14	1850	c.1851G>T	c.(1849-1851)gtG>gtT	p.V617V	PLCH1_ENST00000447496.2_Silent_p.V617V|PLCH1_ENST00000414191.1_Silent_p.V599V|PLCH1_ENST00000460012.1_Silent_p.V599V|PLCH1_ENST00000334686.6_Silent_p.V599V|PLCH1_ENST00000494598.1_Silent_p.V617V	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	617	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACCGTCATCCACAATGTCCT	0.413																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1795-1797)gtG>gtT		phospholipase C, eta 1							120.0	111.0	114.0					3																	155215116		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155215116C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1851G>T	3.37:g.155215116C>A						PLCH1_ENST00000334686.6_Silent_p.V599V|PLCH1_ENST00000340059.7_Silent_p.V617V|PLCH1_ENST00000414191.1_Silent_p.V599V|PLCH1_ENST00000447496.2_Silent_p.V617V|PLCH1_ENST00000494598.1_Silent_p.V617V	p.V599V			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		15	2154	-			617					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.1797G>T	CCDS46939.1																																																																																				0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		16	55	1	0	2.35188e-11	1	2.93101e-11	16	55				
MPDZ	8777	broad.mit.edu	37	9	13168512	13168512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13168512A>G	ENST00000319217.7	-	22	3354	c.3107T>C	c.(3106-3108)aTt>aCt	p.I1036T	MPDZ_ENST00000536827.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I1036T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1036T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I1036T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1036	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCATGAATAATGCTTCGAAC	0.403																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3106-3108)aTt>aCt		multiple PDZ domain protein							204.0	196.0	198.0					9																	13168512		1940	4133	6073	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168512A>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3107T>C	9.37:g.13168512A>G	ENSP00000320006:p.Ile1036Thr					MPDZ_ENST00000546205.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1036T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I1036T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1036T	p.I1036T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3354	-			1036			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3107T>C		.	.	.	.	.	.	.	.	.	.	A	22.7	4.318621	0.81469	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.36	5.36	0.76844	.	0.000000	0.43919	D	0.000513	T	0.72228	0.3434	M	0.91038	3.17	0.80722	D	1	D;D;D	0.56746	0.977;0.971;0.971	P;P;P	0.59546	0.859;0.779;0.779	T	0.80070	-0.1536	10	0.87932	D	0	.	15.6568	0.77144	1.0:0.0:0.0:0.0	.	1036;1036;1036	B7ZMI4;O75970-3;O75970-2	.;.;.	T	1036;1036;1036;42;1036;1036;1036;986;1036	ENSP00000320006:I1036T;ENSP00000439807:I1036T;ENSP00000370410:I1036T;ENSP00000444230:I42T;ENSP00000444151:I1036T;ENSP00000415208:I1036T;ENSP00000370403:I1036T;ENSP00000446358:I1036T	ENSP00000320006:I1036T	I	-	2	0	MPDZ	13158512	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.910000	0.92685	2.146000	0.66826	0.533000	0.62120	ATT		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		91	129	0	0	0	1	0	91	129				
PLIN4	729359	broad.mit.edu	37	19	4512219	4512219	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4512219T>G	ENST00000301286.3	-	3	1710	c.1711A>C	c.(1711-1713)Aca>Cca	p.T571P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	571	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTACACCTGTCTGGACAGCC	0.612																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1711-1713)Aca>Cca		perilipin 4							173.0	192.0	185.0					19																	4512219		2113	4226	6339	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4512219T>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1711A>C	19.37:g.4512219T>G	ENSP00000301286:p.Thr571Pro						p.T571P	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1710	-			571			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1711A>C	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723313	0.48728	.	.	ENSG00000167676	ENST00000301286	T	0.05580	3.42	5.13	-2.73	0.05950	.	2.042410	0.02846	N	0.128528	T	0.15955	0.0384	M	0.82517	2.595	0.09310	N	1	D	0.62365	0.991	P	0.50490	0.642	T	0.44862	-0.9300	10	0.30078	T	0.28	.	8.0297	0.30457	0.1294:0.5333:0.0:0.3374	.	571	Q96Q06	PLIN4_HUMAN	P	571	ENSP00000301286:T571P	ENSP00000301286:T571P	T	-	1	0	PLIN4	4463219	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.591000	0.02100	-0.255000	0.09486	-0.406000	0.06334	ACA		0.612	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		13	166	0	0	0	1	0	13	166				
FLNB	2317	broad.mit.edu	37	3	58134478	58134478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58134478C>T	ENST00000295956.4	+	36	6155	c.5990C>T	c.(5989-5991)tCg>tTg	p.S1997L	FLNB_ENST00000490882.1_Missense_Mutation_p.S2028L|FLNB_ENST00000429972.2_Missense_Mutation_p.S1986L|FLNB_ENST00000358537.3_Missense_Mutation_p.S1973L|FLNB_ENST00000357272.4_Missense_Mutation_p.S1997L|FLNB_ENST00000348383.5_Missense_Mutation_p.S1997L|FLNB_ENST00000493452.1_Missense_Mutation_p.S1804L|FLNB_ENST00000419752.2_Missense_Mutation_p.S1817L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1997	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGTCCAGTCGGAGATTGGT	0.567																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(5989-5991)tCg>tTg		filamin B, beta							60.0	57.0	58.0					3																	58134478		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58134478C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5990C>T	3.37:g.58134478C>T	ENSP00000295956:p.Ser1997Leu					FLNB_ENST00000429972.2_Missense_Mutation_p.S1986L|FLNB_ENST00000358537.3_Missense_Mutation_p.S1973L|FLNB_ENST00000490882.1_Missense_Mutation_p.S2028L|FLNB_ENST00000419752.2_Missense_Mutation_p.S1817L|FLNB_ENST00000348383.5_Missense_Mutation_p.S1997L|FLNB_ENST00000295956.4_Missense_Mutation_p.S1997L|FLNB_ENST00000493452.1_Missense_Mutation_p.S1804L	p.S1997L			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	36	6155	+			1997			Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.5990C>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669880	0.96754	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.91180	-2.19;-2.23;-2.2;-2.2;-2.8;-2.25;-1.98;-1.96	5.99	5.99	0.97316	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.987;0.999;0.999	D;D;D;P;D;D	0.80764	0.983;0.973;0.994;0.76;0.994;0.994	D	0.93172	0.6567	10	0.45353	T	0.12	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1973;2028;1804;1817;1986;1997	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	L	1997;2028;1973;1986;1997;1997;1804;1817	ENSP00000295956:S1997L;ENSP00000420213:S2028L;ENSP00000351339:S1973L;ENSP00000415599:S1986L;ENSP00000232447:S1997L;ENSP00000349819:S1997L;ENSP00000418510:S1804L;ENSP00000414532:S1817L	ENSP00000295956:S1997L	S	+	2	0	FLNB	58109518	1.000000	0.71417	0.982000	0.44146	0.872000	0.50106	7.734000	0.84928	2.840000	0.97914	0.655000	0.94253	TCG		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		21	31	0	0	0	1	0	21	31				
LPCAT2	54947	broad.mit.edu	37	16	55566747	55566747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55566747C>T	ENST00000262134.5	+	6	899	c.715C>T	c.(715-717)Cca>Tca	p.P239S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	239					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AGCCTTCATTCCAGGAGTTCC	0.353																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(715-717)Cca>Tca		lysophosphatidylcholine acyltransferase 2							67.0	68.0	67.0					16																	55566747		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55566747C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.715C>T	16.37:g.55566747C>T	ENSP00000262134:p.Pro239Ser						p.P239S	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			6	899	+			239					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.715C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566836	0.86439	.	.	ENSG00000087253	ENST00000262134	D	0.91407	-2.84	6.02	6.02	0.97574	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	L	0.51853	1.615	0.80722	D	1	D	0.60575	0.988	D	0.65573	0.936	D	0.93533	0.6871	10	0.62326	D	0.03	-23.4957	20.5407	0.99260	0.0:1.0:0.0:0.0	.	239	Q7L5N7	PCAT2_HUMAN	S	239	ENSP00000262134:P239S	ENSP00000262134:P239S	P	+	1	0	LPCAT2	54124248	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	6.789000	0.75110	2.865000	0.98341	0.655000	0.94253	CCA		0.353	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		10	27	0	0	0	1	0	10	27				
RPL32	6161	broad.mit.edu	37	3	12881651	12881651	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12881651A>G	ENST00000429711.2	-	2	185	c.86T>C	c.(85-87)gTc>gCc	p.V29A	RPL32_ENST00000396957.1_Missense_Mutation_p.V29A|RPL32_ENST00000396953.2_Missense_Mutation_p.V29A|RPL32_ENST00000435983.1_Missense_Mutation_p.V29A|SNORA7A_ENST00000384765.1_RNA|RPL32_ENST00000273223.6_Missense_Mutation_p.V29A	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	29					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTTAATTTTGACATATCGGTC	0.478																																						ENST00000429711.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(85-87)gTc>gCc		ribosomal protein L32							209.0	238.0	228.0					3																	12881651		2203	4300	6503	SO:0001583	missense	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12881651A>G	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.86T>C	3.37:g.12881651A>G	ENSP00000416429:p.Val29Ala					RPL32_ENST00000435983.1_Missense_Mutation_p.V29A|RPL32_ENST00000273223.6_Missense_Mutation_p.V29A|RPL32_ENST00000396957.1_Missense_Mutation_p.V29A|RPL32_ENST00000396953.2_Missense_Mutation_p.V29A	p.V29A	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN			2	185	-			29					B2R4Q3|P02433	Missense_Mutation	SNP	ENST00000429711.2	37	c.86T>C	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912866	0.52439	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131;ENST00000434963	.	.	.	4.14	4.14	0.48551	Ribosomal protein L32e, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.54334	0.1852	L	0.49350	1.555	0.80722	D	1	B	0.15719	0.014	B	0.20577	0.03	T	0.51919	-0.8644	9	0.31617	T	0.26	-9.9477	11.1448	0.48424	1.0:0.0:0.0:0.0	.	29	P62910	RL32_HUMAN	A	29	.	ENSP00000339064:V29A	V	-	2	0	RPL32	12856651	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.037000	0.76531	1.716000	0.51395	0.383000	0.25322	GTC		0.478	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		22	230	0	0	0	1	0	22	230				
ESPL1	9700	broad.mit.edu	37	12	53684233	53684233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53684233G>A	ENST00000257934.4	+	24	5435	c.5344G>A	c.(5344-5346)Gca>Aca	p.A1782T	ESPL1_ENST00000552462.1_Missense_Mutation_p.A1782T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1782					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCGGCTGGCACTGGACCA	0.577																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5344-5346)Gca>Aca		extra spindle pole bodies homolog 1 (S. cerevisiae)							99.0	94.0	96.0					12																	53684233		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53684233G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5344G>A	12.37:g.53684233G>A	ENSP00000257934:p.Ala1782Thr					ESPL1_ENST00000552462.1_Missense_Mutation_p.A1782T	p.A1782T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			24	5435	+			1782						Missense_Mutation	SNP	ENST00000257934.4	37	c.5344G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819119	0.50633	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13089	2.62;2.62	5.4	3.44	0.39384	.	0.290209	0.37483	N	0.002078	T	0.22475	0.0542	M	0.77103	2.36	0.09310	N	1	P	0.40578	0.722	B	0.43990	0.438	T	0.07195	-1.0785	10	0.49607	T	0.09	.	11.518	0.50534	0.1671:0.0:0.8329:0.0	.	1782	Q14674	ESPL1_HUMAN	T	1782;1457;1782	ENSP00000257934:A1782T;ENSP00000449831:A1782T	ENSP00000257934:A1782T	A	+	1	0	ESPL1	51970500	0.576000	0.26700	0.070000	0.20053	0.986000	0.74619	3.474000	0.53129	1.524000	0.49035	0.650000	0.86243	GCA		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		10	48	0	0	0	1	0	10	48				
UTP18	51096	broad.mit.edu	37	17	49365522	49365522	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49365522C>A	ENST00000225298.7	+	11	1518	c.1461C>A	c.(1459-1461)atC>atA	p.I487I		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	487					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTACAGAAATCTTGGCAATTG	0.313																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(1459-1461)atC>atA		UTP18 small subunit (SSU) processome component homolog (yeast)							74.0	69.0	70.0					17																	49365522		1808	4068	5876	SO:0001819	synonymous_variant	51096				rRNA processing	nucleolus		g.chr17:49365522C>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1461C>A	17.37:g.49365522C>A							p.I487I	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		11	1518	+			487					Q9H4N6	Silent	SNP	ENST00000225298.7	37	c.1461C>A	CCDS42362.1																																																																																				0.313	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		23	36	1	0	1.22574e-08	1	1.47244e-08	23	36				
AFAP1L2	84632	broad.mit.edu	37	10	116056780	116056780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116056780G>A	ENST00000304129.4	-	18	2416	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S849L|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.S792L			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	796					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACCACGACCGAGAGAGGCCT	0.567																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(2374-2376)tCg>tTg		actin filament associated protein 1-like 2							179.0	155.0	163.0					10																	116056780		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116056780G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.2387C>T	10.37:g.116056780G>A	ENSP00000303042:p.Ser796Leu					AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S796L|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S849L|AFAP1L2_ENST00000491814.1_5'UTR	p.S792L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	18	2675	-		Colorectal(252;0.175)|Breast(234;0.231)	796					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.2375C>T	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774633	0.90108	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.20598	2.09;2.1;2.06	5.43	4.53	0.55603	.	0.065477	0.64402	D	0.000006	T	0.47040	0.1424	M	0.77313	2.365	0.54753	D	0.999988	D;P;D;D;D;D	0.89917	1.0;0.58;1.0;1.0;0.999;0.999	D;B;D;D;D;P	0.74674	0.965;0.067;0.984;0.973;0.937;0.866	T	0.52518	-0.8565	10	0.87932	D	0	-6.5369	14.0684	0.64847	0.0726:0.0:0.9274:0.0	.	849;358;318;820;792;796	F5GZE1;B7Z363;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	L	792;796;819;849	ENSP00000358276:S792L;ENSP00000303042:S796L;ENSP00000444511:S849L	ENSP00000303042:S796L	S	-	2	0	AFAP1L2	116046770	1.000000	0.71417	0.604000	0.28916	0.975000	0.68041	9.782000	0.99034	1.291000	0.44653	0.561000	0.74099	TCG		0.567	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		4	64	0	0	0	1	0	4	64				
SCN3A	6328	broad.mit.edu	37	2	165997339	165997339	+	Missense_Mutation	SNP	G	G	A	rs375276437		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165997339G>A	ENST00000360093.3	-	13	2332	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	SCN3A_ENST00000283254.7_Missense_Mutation_p.P614L|SCN3A_ENST00000409101.3_Missense_Mutation_p.P614L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCTGTGCGGCACAAACAG	0.502																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1840-1842)cCg>cTg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)	G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	224.0	163.0	184.0		1841,1841,1841	6.1	1.0	2		184	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	98,98,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	614/1952,614/1952,614/2001	165997339	2,13004	2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997339G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1841C>T	2.37:g.165997339G>A	ENSP00000353206:p.Pro614Leu					SCN3A_ENST00000409101.3_Missense_Mutation_p.P614L|SCN3A_ENST00000283254.7_Missense_Mutation_p.P614L	p.P614L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			13	2332	-			614					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1841C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.192290	0.78902	0.0	2.33E-4	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66	6.07	6.07	0.98685	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000008	D	0.99121	0.9697	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;0.993	P;D;D;D;P	0.91635	0.868;0.978;0.999;0.999;0.63	D	0.99136	1.0854	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	614;614;614;614;614	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	L	614	ENSP00000353206:P614L;ENSP00000283254:P614L;ENSP00000386726:P614L;ENSP00000403348:P614L	ENSP00000283254:P614L	P	-	2	0	SCN3A	165705585	1.000000	0.71417	0.972000	0.41901	0.979000	0.70002	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CCG		0.502	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		19	21	0	0	0	1	0	19	21				
SLC7A11	23657	broad.mit.edu	37	4	139140512	139140512	+	Silent	SNP	C	C	T	rs143734527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139140512C>T	ENST00000280612.5	-	5	933	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	218					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	TAAAGTTCTGCGTTTGACCTG	0.388																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(652-654)acG>acA		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	T		0,4406		0,0,2203	116.0	105.0	109.0		654	-3.2	1.0	4	dbSNP_134	109	5,8595	818.9+/-406.8	0,5,4295	no	coding-synonymous	SLC7A11	NM_014331.3		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		218/502	139140512	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139140512C>T	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.654G>A	4.37:g.139140512C>T							p.T218T	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			5	933	-	all_hematologic(180;0.166)		218					A8K2U4	Silent	SNP	ENST00000280612.5	37	c.654G>A	CCDS3742.1																																																																																				0.388	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			29	47	0	0	0	1	0	29	47				
ZNF654	55279	broad.mit.edu	37	3	88188839	88188839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88188839G>A	ENST00000309495.5	+	1	586	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGatgttattgaaaatgttat	0.363																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(379-381)Gaa>Aaa		zinc finger protein 654							30.0	30.0	30.0					3																	88188839		1848	4094	5942	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188839G>A	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.379G>A	3.37:g.88188839G>A	ENSP00000312141:p.Glu127Lys					CGGBP1_ENST00000462901.1_Intron	p.E127K	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	586	+		Lung NSC(201;0.0283)	127					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.379G>A	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.326230	0.01309	.	.	ENSG00000175105	ENST00000309495	T	0.10477	2.87	3.63	3.63	0.41609	.	2.365980	0.01427	N	0.014619	T	0.08447	0.0210	N	0.19112	0.55	0.20764	N	0.999854	P	0.38504	0.634	B	0.33121	0.158	T	0.18618	-1.0331	10	0.13853	T	0.58	.	11.6151	0.51086	0.0:0.1809:0.8191:0.0	.	127	Q8IZM8	ZN654_HUMAN	K	127	ENSP00000312141:E127K	ENSP00000312141:E127K	E	+	1	0	ZNF654	88271529	0.258000	0.24033	0.234000	0.24042	0.003000	0.03518	1.182000	0.32029	2.347000	0.79759	0.400000	0.26472	GAA		0.363	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		3	7	0	0	0	1	0	3	7				
ACSL3	2181	broad.mit.edu	37	2	223806295	223806295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223806295G>T	ENST00000357430.3	+	17	2617	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	ACSL3_ENST00000392066.3_Missense_Mutation_p.D696Y	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	696					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTGGTGACAGATGCCTTCAA	0.388			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(2086-2088)Gat>Tat		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						92.0	91.0	91.0					2																	223806295		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223806295G>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.2086G>T	2.37:g.223806295G>T	ENSP00000350012:p.Asp696Tyr					ACSL3_ENST00000392066.3_Missense_Mutation_p.D696Y	p.D696Y	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	17	2617	+		Renal(207;0.0183)	696					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.2086G>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490127	0.84962	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.17054	2.3;2.3	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.53272	-0.8462	10	0.87932	D	0	-29.7473	20.5666	0.99351	0.0:0.0:1.0:0.0	.	696	O95573	ACSL3_HUMAN	Y	696	ENSP00000350012:D696Y;ENSP00000375918:D696Y	ENSP00000350012:D696Y	D	+	1	0	ACSL3	223514539	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.448000	0.97600	2.854000	0.98071	0.655000	0.94253	GAT		0.388	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		11	82	1	0	3.86212e-05	1	4.30401e-05	11	82				
SUPT6H	6830	broad.mit.edu	37	17	27010091	27010091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27010091C>T	ENST00000314616.6	+	15	2142	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P620L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	620	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATATAACCCCCACCAAGAAA	0.532																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1858-1860)cCc>cTc		suppressor of Ty 6 homolog (S. cerevisiae)							31.0	29.0	30.0					17																	27010091		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010091C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1859C>T	17.37:g.27010091C>T	ENSP00000319104:p.Pro620Leu					SUPT6H_ENST00000347486.4_Missense_Mutation_p.P620L	p.P620L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			15	2142	+	Lung NSC(42;0.00431)		620					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1859C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020977	0.93462	.	.	ENSG00000109111	ENST00000314616	T	0.30182	1.54	5.95	5.95	0.96441	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.44283	-0.9338	10	0.31617	T	0.26	-13.4349	20.3854	0.98941	0.0:1.0:0.0:0.0	.	620	Q7KZ85	SPT6H_HUMAN	L	620	ENSP00000319104:P620L	ENSP00000319104:P620L	P	+	2	0	SUPT6H	24034218	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.399000	0.79935	2.825000	0.97269	0.655000	0.94253	CCC		0.532	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		5	9	0	0	0	1	0	5	9				
FREM1	158326	broad.mit.edu	37	9	14748498	14748498	+	Silent	SNP	A	A	C	rs17852893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14748498A>C	ENST00000380880.3	-	31	6480	c.5697T>G	c.(5695-5697)tcT>tcG	p.S1899S	FREM1_ENST00000422223.2_Silent_p.S1899S|FREM1_ENST00000380881.4_Silent_p.S1900S|FREM1_ENST00000380894.1_Silent_p.S435S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1899					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGCATGGAAGATGGAAGAG	0.522																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5698-5700)tcT>tcG		FRAS1 related extracellular matrix 1							142.0	143.0	143.0					9																	14748498		1909	4124	6033	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14748498A>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5697T>G	9.37:g.14748498A>C						FREM1_ENST00000422223.2_Silent_p.S1899S|FREM1_ENST00000380880.3_Silent_p.S1899S|FREM1_ENST00000380894.1_Silent_p.S435S	p.S1900S			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	32	6515	-			1899					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.5700T>G	CCDS47952.1																																																																																				0.522	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		13	141	0	0	0	1	0	13	141				
ANKS6	203286	broad.mit.edu	37	9	101536295	101536295	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101536295A>G	ENST00000353234.4	-	9	1732	c.1685T>C	c.(1684-1686)cTa>cCa	p.L562P	ANKS6_ENST00000375019.2_Missense_Mutation_p.L261P|ANKS6_ENST00000375018.1_Missense_Mutation_p.L562P|ANKS6_ENST00000540940.1_Missense_Mutation_p.L367P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	562						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGAAGGGGGTAGGAATGGGGG	0.592																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1684-1686)cTa>cCa		ankyrin repeat and sterile alpha motif domain containing 6							41.0	47.0	45.0					9																	101536295		1929	4129	6058	SO:0001583	missense	203286							g.chr9:101536295A>G	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1685T>C	9.37:g.101536295A>G	ENSP00000297837:p.Leu562Pro					ANKS6_ENST00000540940.1_Missense_Mutation_p.L367P|ANKS6_ENST00000375018.1_Missense_Mutation_p.L562P|ANKS6_ENST00000375019.2_Missense_Mutation_p.L261P	p.L562P			Q68DC2	ANKS6_HUMAN			9	1732	-		Acute lymphoblastic leukemia(62;0.0527)	562					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1685T>C	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950842	0.73787	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.76968	1.06;-1.06;-1.06;1.34	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	D	0.86318	0.5904	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.87729	0.2578	10	0.87932	D	0	-8.5127	13.5153	0.61537	1.0:0.0:0.0:0.0	.	562;562	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	P	261;562;562;367	ENSP00000364159:L261P;ENSP00000364158:L562P;ENSP00000297837:L562P;ENSP00000442189:L367P	ENSP00000297837:L562P	L	-	2	0	ANKS6	100576116	1.000000	0.71417	0.958000	0.39756	0.701000	0.40568	8.256000	0.89848	2.085000	0.62840	0.459000	0.35465	CTA		0.592	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		3	37	0	0	0	1	0	3	37				
C7orf43	55262	broad.mit.edu	37	7	99754506	99754506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99754506G>T	ENST00000316937.3	-	6	1140	c.955C>A	c.(955-957)Ctg>Atg	p.L319M	MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000457641.1_Missense_Mutation_p.L50M|C7orf43_ENST00000419841.1_Missense_Mutation_p.L87M|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	319										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCTCTCAGCTGAAACAGG	0.602																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(955-957)Ctg>Atg		chromosome 7 open reading frame 43							58.0	67.0	64.0					7																	99754506		2201	4300	6501	SO:0001583	missense	55262							g.chr7:99754506G>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.955C>A	7.37:g.99754506G>T	ENSP00000324741:p.Leu319Met					C7orf43_ENST00000419841.1_Missense_Mutation_p.L87M|C7orf43_ENST00000457641.1_Missense_Mutation_p.L50M|C7orf43_ENST00000498638.1_5'UTR	p.L319M	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			6	1140	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		319					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.955C>A	CCDS5687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.96|19.96	3.923788|3.923788	0.73213|0.73213	.|.	.|.	ENSG00000146826|ENSG00000146826	ENST00000456769|ENST00000457641;ENST00000316937;ENST00000419841	.|T;T;T	.|0.47869	.|0.83;0.83;0.83	5.43|5.43	4.54|4.54	0.55810|0.55810	.|.	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.51126|0.51126	0.1656|0.1656	N|N	0.19112|0.19112	0.55|0.55	0.38682|0.38682	D|D	0.952564|0.952564	.|D;D	.|0.76494	.|0.997;0.999	.|D;D	.|0.83275	.|0.979;0.996	T|T	0.57207|0.57207	-0.7851|-0.7851	5|10	.|0.72032	.|D	.|0.01	-10.0321|-10.0321	10.6098|10.6098	0.45415|0.45415	0.0923:0.0:0.9077:0.0|0.0923:0.0:0.9077:0.0	.|.	.|87;319	.|E9PFF9;Q8WVR3	.|.;CG043_HUMAN	D|M	224|50;319;87	.|ENSP00000396432:L50M;ENSP00000324741:L319M;ENSP00000406326:L87M	.|ENSP00000324741:L319M	A|L	-|-	2|1	0|2	C7orf43|C7orf43	99592442|99592442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	3.495000|3.495000	0.53280|0.53280	2.564000|2.564000	0.86499|0.86499	0.462000|0.462000	0.41574|0.41574	GCT|CTG		0.602	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		9	114	1	0	2.17888e-05	1	2.45068e-05	9	114				
PIBF1	10464	broad.mit.edu	37	13	73547757	73547757	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73547757C>A	ENST00000326291.6	+	16	2331	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	665						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTCAGCTTTACTACAGACGAA	0.254																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1993-1995)Cta>Ata		progesterone immunomodulatory binding factor 1							62.0	67.0	66.0					13																	73547757		2203	4288	6491	SO:0001583	missense	10464					centrosome		g.chr13:73547757C>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1993C>A	13.37:g.73547757C>A	ENSP00000317144:p.Leu665Ile					PIBF1_ENST00000489922.1_3'UTR	p.L665I	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	16	2331	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	665					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1993C>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026663	0.35797	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.22539	1.95	5.26	1.41	0.22369	.	0.088741	0.46145	D	0.000301	T	0.14960	0.0361	L	0.50333	1.59	0.41131	D	0.985882	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.09357	-1.0678	10	0.34782	T	0.22	-1.2795	3.7693	0.08635	0.1342:0.5766:0.1308:0.1584	.	665;665	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	I	665;124	ENSP00000317144:L665I	ENSP00000317144:L665I	L	+	1	2	PIBF1	72445758	0.997000	0.39634	0.997000	0.53966	0.937000	0.57800	1.311000	0.33562	1.215000	0.43411	0.655000	0.94253	CTA		0.254	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		17	29	1	0	2.4624e-09	1	2.98951e-09	17	29				
FRYL	285527	broad.mit.edu	37	4	48542894	48542894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48542894G>A	ENST00000503238.1	-	43	5770	c.5771C>T	c.(5770-5772)cCc>cTc	p.P1924L	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.P1924L|FRYL_ENST00000358350.4_Missense_Mutation_p.P1924L|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTATTAATGGGACTTGTGCT	0.393																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5770-5772)cCc>cTc		FRY-like							115.0	110.0	111.0					4																	48542894		1872	4102	5974	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48542894G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5771C>T	4.37:g.48542894G>A	ENSP00000426064:p.Pro1924Leu					FRYL_ENST00000503238.1_Missense_Mutation_p.P1924L|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.P1924L	p.P1924L			O94915	FRYL_HUMAN			46	6375	-			1924					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.5771C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856657	0.32791	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.23552	1.9;1.9;1.9	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.50333	1.59	0.80722	D	1	D;B;B	0.71674	0.998;0.036;0.06	D;B;B	0.76071	0.987;0.013;0.029	T	0.04320	-1.0960	10	0.32370	T	0.25	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	754;1924;1924	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	L	1924	ENSP00000426064:P1924L;ENSP00000351113:P1924L;ENSP00000441114:P1924L	ENSP00000351113:P1924L	P	-	2	0	FRYL	48237651	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.688000	0.74557	2.937000	0.99478	0.650000	0.86243	CCC		0.393	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			3	74	0	0	0	1	0	3	74				
SLCO1B3	28234	broad.mit.edu	37	12	21030736	21030736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21030736C>T	ENST00000381545.3	+	10	1220	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T334I|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T334I|LST3_ENST00000540229.1_Missense_Mutation_p.T334I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	334					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AGCATCCTTACCAATCCCCTG	0.259																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1000-1002)aCc>aTc		solute carrier organic anion transporter family, member 1B3							109.0	105.0	107.0					12																	21030736		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21030736C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1001C>T	12.37:g.21030736C>T	ENSP00000370956:p.Thr334Ile					LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T334I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T334I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T334I	p.T334I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			10	1220	+	Esophageal squamous(101;0.149)		334					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1001C>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	12.75	2.032561	0.35893	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.81415	0.21;0.21;0.21;-1.49;0.21	3.13	1.05	0.20165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.587551	0.18031	N	0.153924	D	0.86585	0.5968	M	0.84683	2.71	0.80722	D	1	D;B;B	0.60575	0.988;0.421;0.421	P;P;P	0.57846	0.828;0.515;0.515	D	0.85631	0.1270	10	0.49607	T	0.09	.	10.2348	0.43277	0.0:0.3927:0.6073:0.0	.	334;334;334	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	334;334;334;158;334	ENSP00000261196:T334I;ENSP00000370956:T334I;ENSP00000451758:T334I;ENSP00000443225:T158I;ENSP00000441269:T334I	ENSP00000441269:T334I	T	+	2	0	SLCO1B3;RP11-545J16.1	20922003	0.201000	0.23410	0.989000	0.46669	0.160000	0.22226	1.341000	0.33907	0.510000	0.28216	-0.834000	0.03071	ACC		0.259	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		18	56	0	0	0	1	0	18	56				
CENPM	79019	broad.mit.edu	37	22	42341982	42341982	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42341982G>T	ENST00000215980.5	-	3	252	c.165C>A	c.(163-165)ccC>ccA	p.P55P	CENPM_ENST00000402338.1_Silent_p.P21P|CENPM_ENST00000407253.3_Silent_p.P55P|CENPM_ENST00000402420.1_Silent_p.P21P|CENPM_ENST00000404067.1_Silent_p.P21P	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	55					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						TCACACTGGAGGGCAAAGGGA	0.522																																						ENST00000402338.1																			0				kidney(1)|large_intestine(1)|prostate(1)	3						c.(61-63)ccC>ccA		centromere protein M							69.0	62.0	64.0					22																	42341982		2203	4300	6503	SO:0001819	synonymous_variant	79019				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus		g.chr22:42341982G>T	BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"""chromosome 22 open reading frame 18"""	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.165C>A	22.37:g.42341982G>T						CENPM_ENST00000215980.5_Silent_p.P55P|CENPM_ENST00000402420.1_Silent_p.P21P|CENPM_ENST00000407253.3_Silent_p.P55P|CENPM_ENST00000404067.1_Silent_p.P21P	p.P21P			Q9NSP4	CENPM_HUMAN			2	304	-			55					A7LM22|B1AHQ9|Q6I9W3	Silent	SNP	ENST00000215980.5	37	c.63C>A	CCDS14025.1																																																																																				0.522	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		5	31	1	0	0.000602214	1	0.000649039	5	31				
XPR1	9213	broad.mit.edu	37	1	180804025	180804025	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180804025G>T	ENST00000367590.4	+	10	1348	c.1150G>T	c.(1150-1152)Gcc>Tcc	p.A384S	XPR1_ENST00000367589.3_Missense_Mutation_p.A384S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	384					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTATTTACAGCCCCCTTCCA	0.403																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1150-1152)Gcc>Tcc		xenotropic and polytropic retrovirus receptor 1							62.0	62.0	62.0					1																	180804025		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180804025G>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1150G>T	1.37:g.180804025G>T	ENSP00000356562:p.Ala384Ser					XPR1_ENST00000367589.3_Missense_Mutation_p.A384S	p.A384S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			10	1348	+			384					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1150G>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543393	0.86022	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42131	0.98;0.98	5.19	5.19	0.71726	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.48174	1.505	0.80722	D	1	D;D	0.71674	0.985;0.998	P;D	0.67382	0.868;0.951	T	0.55704	-0.8099	10	0.42905	T	0.14	-5.5048	18.3105	0.90197	0.0:0.0:1.0:0.0	.	384;384	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	S	384	ENSP00000356562:A384S;ENSP00000356561:A384S	ENSP00000356561:A384S	A	+	1	0	XPR1	179070648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.697000	0.98697	2.410000	0.81850	0.557000	0.71058	GCC		0.403	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		15	61	1	0	4.14922e-12	1	5.2041e-12	15	61				
ATP6V1E2	90423	broad.mit.edu	37	2	46739186	46739186	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739186C>A	ENST00000306448.4	-	2	1778	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R222I	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	222					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTTTCTGTTGGTGTT	0.393																																						ENST00000306448.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(664-666)aGa>aTa		ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2							70.0	71.0	71.0					2																	46739186		2203	4300	6503	SO:0001583	missense	90423				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	g.chr2:46739186C>A	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.665G>T	2.37:g.46739186C>A	ENSP00000304891:p.Arg222Ile					ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R222I	p.R222I	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	1778	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	222						Missense_Mutation	SNP	ENST00000306448.4	37	c.665G>T	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302055	0.81136	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87120	0.2190	9	0.87932	D	0	-19.2948	11.9896	0.53168	0.0:1.0:0.0:0.0	.	222	Q96A05	VATE2_HUMAN	I	222	.	ENSP00000304891:R222I	R	-	2	0	ATP6V1E2	46592690	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.212000	0.72188	2.527000	0.85204	0.655000	0.94253	AGA		0.393	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		26	48	1	0	2.12542e-12	1	2.67336e-12	26	48				
SNHG14	104472715	broad.mit.edu	37	15	25463582	25463582	+	RNA	SNP	C	C	T	rs188378978	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25463582C>T	ENST00000424208.1	+	0	2869				SNORD115-25_ENST00000362619.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CACCTGTTCCCCTAGATGGTG	0.582													C|||	3	0.000599042	0.0	0.0043	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.0					ENST00000424208.1																			0																																																			0							g.chr15:25463582C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463582C>T						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	2869	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.582	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	5	0	0	0	1	0	7	5				
DOPEY1	23033	broad.mit.edu	37	6	83848136	83848136	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83848136C>A	ENST00000349129.2	+	21	4635	c.4375C>A	c.(4375-4377)Ctc>Atc	p.L1459I	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L1450I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L1440I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1459					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTTATTTCTCTCTGCTTATA	0.363																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4375-4377)Ctc>Atc		dopey family member 1							79.0	85.0	83.0					6																	83848136		2203	4298	6501	SO:0001583	missense	23033				protein transport			g.chr6:83848136C>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4375C>A	6.37:g.83848136C>A	ENSP00000195654:p.Leu1459Ile					DOPEY1_ENST00000369739.3_Missense_Mutation_p.L1450I|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L1440I	p.L1459I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4635	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1459					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4375C>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344476	0.41498	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.48201	0.82;0.82	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.33485	1.01	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.74674	0.984;0.978;0.978	T	0.30238	-0.9985	10	0.21540	T	0.41	.	7.9905	0.30237	0.0:0.816:0.0:0.184	.	1350;1450;1459	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	1459;1440;1440	ENSP00000195654:L1459I;ENSP00000237163:L1440I	ENSP00000237163:L1440I	L	+	1	0	DOPEY1	83904855	0.998000	0.40836	0.999000	0.59377	0.581000	0.36288	3.677000	0.54619	2.890000	0.99128	0.650000	0.86243	CTC		0.363	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		12	109	1	0	2.80697e-09	1	3.39963e-09	12	109				
CCP110	9738	broad.mit.edu	37	16	19548728	19548728	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19548728C>T	ENST00000381396.5	+	4	1984	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N	CCP110_ENST00000396208.2_Silent_p.N579N|CCP110_ENST00000396212.2_Silent_p.N579N	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	579					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTTTGGATAACAGTTTTGAGA	0.353																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(1735-1737)aaC>aaT		centriolar coiled coil protein 110kDa							101.0	106.0	104.0					16																	19548728		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19548728C>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1737C>T	16.37:g.19548728C>T						CCP110_ENST00000396208.2_Silent_p.N579N|CCP110_ENST00000381396.5_Silent_p.N579N	p.N579N	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	2173	+			579					B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.1737C>T	CCDS55992.1																																																																																				0.353	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		11	134	0	0	0	1	0	11	134				
RAB3D	9545	broad.mit.edu	37	19	11436202	11436202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11436202G>A	ENST00000222120.3	-	5	792	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	CTC-510F12.4_ENST00000586356.1_RNA|CTC-510F12.6_ENST00000586051.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.R178C|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	178					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TCCACCAGGCGCTCGAAGACC	0.567																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(532-534)Cgc>Tgc		RAB3D, member RAS oncogene family							136.0	121.0	126.0					19																	11436202		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11436202G>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.532C>T	19.37:g.11436202G>A	ENSP00000222120:p.Arg178Cys					RAB3D_ENST00000589655.1_Missense_Mutation_p.R178C|TSPAN16_ENST00000316737.1_Intron	p.R178C	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			5	792	-			178						Missense_Mutation	SNP	ENST00000222120.3	37	c.532C>T	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873326	0.51695	.	.	ENSG00000105514	ENST00000222120	T	0.80123	-1.34	4.75	3.69	0.42338	.	0.314743	0.34906	N	0.003583	T	0.75642	0.3877	L	0.43152	1.355	0.80722	D	1	B	0.22851	0.076	B	0.28232	0.087	T	0.74518	-0.3639	10	0.66056	D	0.02	.	13.8014	0.63202	0.0:0.1552:0.8448:0.0	.	178	O95716	RAB3D_HUMAN	C	178	ENSP00000222120:R178C	ENSP00000222120:R178C	R	-	1	0	RAB3D	11297202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.338000	0.65947	1.189000	0.43028	0.455000	0.32223	CGC		0.567	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		7	71	0	0	0	1	0	7	71				
MCF2	4168	broad.mit.edu	37	X	138670585	138670585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138670585C>A	ENST00000370576.4	-	21	2592	c.2383G>T	c.(2383-2385)Gat>Tat	p.D795Y	MCF2_ENST00000414978.1_Missense_Mutation_p.D855Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D811Y|MCF2_ENST00000536274.1_Missense_Mutation_p.D756Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D871Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D940Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D795Y|MCF2_ENST00000520602.1_Missense_Mutation_p.D855Y	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	795	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D795H(2)|p.D871H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCTACATTAGAA	0.338																																						ENST00000520602.1																			3	Substitution - Missense(3)	p.D795H(2)|p.D871H(1)	lung(3)	NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2563-2565)Gat>Tat		MCF.2 cell line derived transforming sequence							56.0	53.0	54.0					X																	138670585		2202	4295	6497	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138670585C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2383G>T	X.37:g.138670585C>A	ENSP00000359608:p.Asp795Tyr					MCF2_ENST00000536274.1_Missense_Mutation_p.D756Y|MCF2_ENST00000370576.4_Missense_Mutation_p.D795Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D871Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D811Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D940Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D855Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D795Y	p.D855Y			P10911	MCF2_HUMAN			24	2848	-	Acute lymphoblastic leukemia(192;0.000127)		795					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2563G>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.35|16.35	3.098961|3.098961	0.56183|0.56183	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.11604|.	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.355790|.	0.35151|.	N|.	0.003420|.	T|T	0.75997|0.75997	0.3926|0.3926	M|M	0.78223|0.78223	2.4|2.4	0.47778|0.47778	D|D	0.99951|0.99951	D;D;D;D;D;D;D;D|.	0.89917|.	0.995;1.0;0.991;0.995;0.991;0.995;1.0;0.995|.	D;D;D;D;D;D;D;D|.	0.77004|.	0.928;0.962;0.917;0.928;0.944;0.928;0.989;0.928|.	T|T	0.76607|0.76607	-0.2897|-0.2897	10|5	0.87932|.	D|.	0|.	.|.	15.463|15.463	0.75373|0.75373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	871;940;756;795;795;940;811;795|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	Y|I	855;795;756;940;855;398;871;795;811|298	ENSP00000427745:D855Y;ENSP00000359608:D795Y;ENSP00000438155:D756Y;ENSP00000359610:D940Y;ENSP00000397055:D855Y;ENSP00000405848:D398Y;ENSP00000430276:D871Y;ENSP00000359605:D795Y;ENSP00000342204:D811Y|.	ENSP00000342204:D811Y|.	D|R	-|-	1|2	0|0	MCF2|MCF2	138498251|138498251	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.339000|0.339000	0.28857|0.28857	4.730000|4.730000	0.62015|0.62015	2.494000|2.494000	0.84150|0.84150	0.600000|0.600000	0.82982|0.82982	GAT|AGA		0.338	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		5	63	1	0	1	1	1	5	63				
MIB2	142678	broad.mit.edu	37	1	1560486	1560486	+	Silent	SNP	C	C	T	rs372609864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1560486C>T	ENST00000357210.4	+	6	1032	c.816C>T	c.(814-816)ggC>ggT	p.G272G	MIB2_ENST00000378710.3_Silent_p.G272G|MIB2_ENST00000504599.1_Silent_p.G228G|MIB2_ENST00000520777.1_Silent_p.G329G|MIB2_ENST00000378708.1_Silent_p.G214G|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000505820.2_Silent_p.G329G|MIB2_ENST00000355826.5_Silent_p.G315G|MIB2_ENST00000360522.4_Silent_p.G272G	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	272	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGTGTGGGCCACAAGGGCA	0.632																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(814-816)ggC>ggT		mindbomb E3 ubiquitin protein ligase 2		C	,,,,	0,4402		0,0,2201	81.0	90.0	87.0		987,945,,,987	-0.8	1.0	1		87	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous	MIB2	NM_001170686.1,NM_001170687.1,NM_001170688.1,NM_001170689.1,NM_080875.2	,,,,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,,,	329/1067,315/1057,,,329/1071	1560486	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560486C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.816C>T	1.37:g.1560486C>T						MIB2_ENST00000504599.1_Silent_p.G228G|MIB2_ENST00000355826.5_Silent_p.G315G|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Silent_p.G329G|MIB2_ENST00000378708.1_Silent_p.G214G|MIB2_ENST00000378710.3_Silent_p.G272G|MIB2_ENST00000360522.4_Silent_p.G272G|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000505820.2_Silent_p.G329G	p.G272G	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	1032	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	272			MIB/HERC2 2.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.816C>T		.	.	.	.	.	.	.	.	.	.	C	11.02	1.516495	0.27123	0.0	1.16E-4	ENSG00000197530	ENST00000514234	.	.	.	5.01	-0.753	0.11068	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	-9.544	3.3587	0.07178	0.1027:0.4569:0.2204:0.22	.	.	.	.	S	123	.	.	P	+	1	0	MIB2	1550349	0.621000	0.27077	1.000000	0.80357	0.995000	0.86356	-0.171000	0.09883	0.145000	0.18977	0.462000	0.41574	CCA		0.632	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		29	45	0	0	0	1	0	29	45				
ZNF502	91392	broad.mit.edu	37	3	44763330	44763330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44763330C>T	ENST00000296091.4	+	4	1277	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.H341Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.H341Y	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CCTCTCTCAGCATCAGAGAAT	0.403																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(1021-1023)Cat>Tat		zinc finger protein 502							52.0	56.0	55.0					3																	44763330		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763330C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1021C>T	3.37:g.44763330C>T	ENSP00000296091:p.His341Tyr					ZNF502_ENST00000436624.2_Missense_Mutation_p.H341Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.H341Y	p.H341Y	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1277	+			341						Missense_Mutation	SNP	ENST00000296091.4	37	c.1021C>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420475	0.83559	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	D;D;D	0.86769	-2.17;-2.17;-2.17	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95182	0.8438	H	0.94423	3.535	0.39795	D	0.972496	D	0.89917	1.0	D	0.87578	0.998	D	0.97005	0.9732	9	0.87932	D	0	-7.5125	15.9836	0.80130	0.0:1.0:0.0:0.0	.	341	Q8TBZ5	ZN502_HUMAN	Y	341	ENSP00000397390:H341Y;ENSP00000296091:H341Y;ENSP00000406469:H341Y	ENSP00000296091:H341Y	H	+	1	0	ZNF502	44738334	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	4.274000	0.58921	2.384000	0.81235	0.655000	0.94253	CAT		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		20	56	0	0	0	1	0	20	56				
BLM	641	broad.mit.edu	37	15	91290665	91290665	+	Missense_Mutation	SNP	C	C	T	rs148545569	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91290665C>T	ENST00000355112.3	+	2	161	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	BLM_ENST00000560509.1_Missense_Mutation_p.R15C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	15					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCAACTAGAACGTCACTCAGC	0.363			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(43-45)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like		C	CYS/ARG	0,4396		0,0,2198	74.0	66.0	69.0		43	5.7	1.0	15	dbSNP_134	69	2,8594	2.2+/-6.3	0,2,4296	yes	missense	BLM	NM_000057.2	180	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	15/1418	91290665	2,12990	2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91290665C>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.43C>T	15.37:g.91290665C>T	ENSP00000347232:p.Arg15Cys					BLM_ENST00000560509.1_Missense_Mutation_p.R15C	p.R15C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		2	161	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		15					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.43C>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263197	0.80358	0.0	2.33E-4	ENSG00000197299	ENST00000355112	T	0.61742	0.08	5.67	5.67	0.87782	.	0.278838	0.27851	N	0.017587	T	0.71863	0.3390	M	0.74881	2.28	0.49213	D	0.99976	D;D	0.89917	1.0;1.0	P;P	0.57846	0.828;0.828	T	0.74780	-0.3549	10	0.66056	D	0.02	3.9114	15.2756	0.73739	0.0:1.0:0.0:0.0	.	15;15	B2RAN0;P54132	.;BLM_HUMAN	C	15	ENSP00000347232:R15C	ENSP00000347232:R15C	R	+	1	0	BLM	89091669	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.039000	0.57325	2.676000	0.91093	0.655000	0.94253	CGT		0.363	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			8	14	0	0	0	1	0	8	14				
IGSF10	285313	broad.mit.edu	37	3	151165181	151165181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165181G>A	ENST00000282466.3	-	4	2587	c.2588C>T	c.(2587-2589)aCt>aTt	p.T863I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	863					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAATAGCAGTAGACAGTTT	0.383																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2587-2589)aCt>aTt		immunoglobulin superfamily, member 10							233.0	242.0	239.0					3																	151165181		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165181G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2588C>T	3.37:g.151165181G>A	ENSP00000282466:p.Thr863Ile						p.T863I	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2587	-			863					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2588C>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613043	0.28712	.	.	ENSG00000152580	ENST00000282466	T	0.70164	-0.46	4.8	1.89	0.25635	.	0.619467	0.14204	N	0.334518	T	0.65974	0.2743	L	0.54323	1.7	0.09310	N	1	P	0.48911	0.917	P	0.49226	0.603	T	0.55483	-0.8134	10	0.48119	T	0.1	.	9.0715	0.36495	0.0:0.1427:0.5624:0.295	.	863	Q6WRI0	IGS10_HUMAN	I	863	ENSP00000282466:T863I	ENSP00000282466:T863I	T	-	2	0	IGSF10	152647871	0.003000	0.15002	0.000000	0.03702	0.062000	0.15995	0.910000	0.28571	0.071000	0.16664	0.585000	0.79938	ACT		0.383	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		69	228	0	0	0	1	0	69	228				
SYNE3	161176	broad.mit.edu	37	14	95912288	95912288	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95912288G>A	ENST00000334258.5	-	8	1604	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	SYNE3_ENST00000554873.1_Silent_p.D287D|SYNE3_ENST00000553340.1_Silent_p.D530D|SYNE3_ENST00000557275.1_Silent_p.D530D	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	530					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TATGCAGCAGGTCTCTGTCCC	0.597																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1588-1590)gaC>gaT		spectrin repeat containing, nuclear envelope family member 3							110.0	97.0	102.0					14																	95912288		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95912288G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1590C>T	14.37:g.95912288G>A						SYNE3_ENST00000557275.1_Silent_p.D530D|SYNE3_ENST00000553340.1_Silent_p.D530D|SYNE3_ENST00000554873.1_Silent_p.D287D	p.D530D	NM_152592.3	NP_689805.3					8	1604	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1590C>T	CCDS9935.1																																																																																				0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		54	52	0	0	0	1	0	54	52				
ZNFX1	57169	broad.mit.edu	37	20	47866162	47866162	+	Missense_Mutation	SNP	C	C	A	rs201173467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47866162C>A	ENST00000396105.1	-	14	3645	c.3399G>T	c.(3397-3399)gaG>gaT	p.E1133D	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1133D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1133							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAAGTGAGCCTCATGCTGGT	0.502																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3397-3399)gaG>gaT		zinc finger, NFX1-type containing 1							113.0	112.0	112.0					20																	47866162		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47866162C>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3399G>T	20.37:g.47866162C>A	ENSP00000379412:p.Glu1133Asp					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1133D	p.E1133D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	3645	-			1133					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3399G>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129312	0.56721	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.97352	-4.35;-4.35	5.41	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98128	1.0429	10	0.87932	D	0	-27.862	12.7412	0.57253	0.0:0.9211:0.0:0.0789	.	1133	Q9P2E3	ZNFX1_HUMAN	D	1133	ENSP00000360817:E1133D;ENSP00000379412:E1133D	ENSP00000360817:E1133D	E	-	3	2	ZNFX1	47299569	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.137000	0.31479	1.521000	0.48983	0.591000	0.81541	GAG		0.502	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		7	97	1	0	1.12685e-05	1	1.27857e-05	7	97				
SLC26A8	116369	broad.mit.edu	37	6	35965538	35965538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35965538T>C	ENST00000490799.1	-	5	957	c.604A>G	c.(604-606)Act>Gct	p.T202A	SLC26A8_ENST00000394602.2_Missense_Mutation_p.T202A|SLC26A8_ENST00000355574.2_Missense_Mutation_p.T202A	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAGAAAAGTTGTGGTTGCC	0.448																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(604-606)Act>Gct		solute carrier family 26 (anion exchanger), member 8							67.0	66.0	66.0					6																	35965538		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35965538T>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.604A>G	6.37:g.35965538T>C	ENSP00000417638:p.Thr202Ala					SLC26A8_ENST00000355574.2_Missense_Mutation_p.T202A|SLC26A8_ENST00000394602.2_Missense_Mutation_p.T202A	p.T202A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			5	957	-			202						Missense_Mutation	SNP	ENST00000490799.1	37	c.604A>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107312	0.56291	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94232	-3.38;-3.06;-3.38	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	D	0.93983	0.8073	L	0.55990	1.75	0.40520	D	0.980826	P;D	0.89917	0.7;1.0	B;D	0.85130	0.125;0.997	D	0.93241	0.6626	10	0.33940	T	0.23	.	12.5724	0.56344	0.0:0.0:0.0:1.0	.	202;202	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	A	202	ENSP00000417638:T202A;ENSP00000378100:T202A;ENSP00000347778:T202A	ENSP00000347778:T202A	T	-	1	0	SLC26A8	36073516	0.994000	0.37717	0.619000	0.29118	0.806000	0.45545	2.755000	0.47540	2.221000	0.72209	0.528000	0.53228	ACT		0.448	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			3	33	0	0	0	1	0	3	33				
PNPLA6	10908	broad.mit.edu	37	19	7621421	7621421	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7621421G>T	ENST00000221249.6	+	28	3493	c.3062G>T	c.(3061-3063)aGc>aTc	p.S1021I	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1059I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1069I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1021I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S994I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1060	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTAACCGCAGCATCCATCGG	0.617																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3061-3063)aGc>aTc		patatin-like phospholipase domain containing 6							176.0	153.0	161.0					19																	7621421		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7621421G>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3062G>T	19.37:g.7621421G>T	ENSP00000221249:p.Ser1021Ile					PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1069I|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1059I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S994I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1021I	p.S1021I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			28	3493	+			1060			Patatin.		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3062G>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.399997	0.83120	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.1	5.1	0.69264	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.044234	0.85682	D	0.000000	T	0.44498	0.1296	L	0.28504	0.86	0.80722	D	1	D;D;D;B	0.89917	0.999;0.997;1.0;0.393	D;D;D;B	0.77004	0.989;0.965;0.981;0.406	T	0.43310	-0.9399	10	0.72032	D	0.01	.	16.0407	0.80680	0.0:0.0:1.0:0.0	.	1060;994;1059;1021	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	I	1021;994;1069;1021	ENSP00000221249:S1021I;ENSP00000443323:S994I;ENSP00000407509:S1069I;ENSP00000394348:S1021I	ENSP00000221249:S1021I	S	+	2	0	PNPLA6	7527421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.382000	0.81193	0.650000	0.86243	AGC		0.617	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		6	87	1	0	0.000157383	1	0.00017284	6	87				
GATA3	2625	broad.mit.edu	37	10	8115914	8115914	+	Silent	SNP	G	G	A	rs369321512		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8115914G>A	ENST00000346208.3	+	6	1715	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.T421T			P23771	GATA3_HUMAN	GATA binding protein 3	420					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACGCCCACGCCGATGCACC	0.642			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(1261-1263)acG>acA		GATA binding protein 3		G	,	1,4405	2.1+/-5.4	0,1,2202	94.0	80.0	85.0		1263,1260	1.0	1.0	10		85	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	GATA3	NM_001002295.1,NM_002051.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	421/445,420/444	8115914	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115914G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1260G>A	10.37:g.8115914G>A						GATA3_ENST00000346208.3_Silent_p.T420T|GATA3_ENST00000461472.1_3'UTR	p.T421T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			6	1831	+			420					Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.1263G>A	CCDS7083.1																																																																																				0.642	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		21	39	0	0	0	1	0	21	39				
CIDEC	63924	broad.mit.edu	37	3	9911604	9911604	+	Silent	SNP	G	G	T	rs377189766		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9911604G>T	ENST00000336832.2	-	5	655	c.516C>A	c.(514-516)tcC>tcA	p.S172S	CIDEC_ENST00000423850.1_Silent_p.S98S|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Silent_p.S182S|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000455015.1_Silent_p.S98S	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	172					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCAGATCATAGGAAAGGGAGT	0.512																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(514-516)tcC>tcA		cell death-inducing DFFA-like effector c							85.0	77.0	80.0					3																	9911604		2203	4300	6503	SO:0001819	synonymous_variant	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911604G>T		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.516C>A	3.37:g.9911604G>T						CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Silent_p.S182S|CIDEC_ENST00000455015.1_Silent_p.S98S|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Silent_p.S98S	p.S172S	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN			5	655	-	Medulloblastoma(99;0.227)		172					C9JMN7|Q67DW9|Q9GZY9	Silent	SNP	ENST00000336832.2	37	c.516C>A	CCDS2587.1																																																																																				0.512	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		9	43	1	0	0.000274275	1	0.000298791	9	43				
KIAA0226	9711	broad.mit.edu	37	3	197444953	197444953	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444953A>C	ENST00000296343.5	-	2	113	c.114T>G	c.(112-114)ggT>ggG	p.G38G	KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Silent_p.G38G|KIAA0226_ENST00000273582.5_5'UTR|KIAA0226_ENST00000389665.5_Silent_p.G38G	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	38					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTGATACCAAACCCTCCACCG	0.522																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000389665.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(112-114)ggT>ggG		KIAA0226							96.0	98.0	97.0					3																	197444953		1974	4155	6129	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197444953A>C	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.114T>G	3.37:g.197444953A>C						KIAA0226_ENST00000296343.5_Silent_p.G38G|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Silent_p.G38G|KIAA0226_ENST00000273582.5_5'UTR	p.G38G			Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	2	296	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		38					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.114T>G	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426615	0.25726	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.81	-0.965	0.10323	.	.	.	.	.	T	0.53351	0.1791	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43702	-0.9375	4	.	.	.	.	7.5172	0.27608	0.3126:0.434:0.2533:0.0	.	.	.	.	V	17	.	.	F	-	1	0	KIAA0226	198929350	0.697000	0.27767	0.991000	0.47740	0.932000	0.56968	-0.150000	0.10189	-0.388000	0.07797	-0.274000	0.10170	TTT		0.522	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		13	37	0	0	0	1	0	13	37				
SGTA	6449	broad.mit.edu	37	19	2759266	2759266	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2759266C>A	ENST00000221566.2	-	9	887	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	242					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGAATCTGGGGATTGT	0.403																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(724-726)caG>caT		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							132.0	139.0	137.0					19																	2759266		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2759266C>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.726G>T	19.37:g.2759266C>A	ENSP00000221566:p.Gln242His						p.Q242H	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	887	-		Hepatocellular(1079;0.137)	242					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.726G>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.646965	0.29246	.	.	ENSG00000104969	ENST00000221566	T	0.39229	1.09	4.05	-2.08	0.07254	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	M	0.84683	2.71	0.40325	D	0.978866	D	0.55605	0.972	P	0.51999	0.687	T	0.55418	-0.8144	10	0.66056	D	0.02	-13.7812	9.5255	0.39162	0.0:0.4669:0.0:0.5331	.	242	O43765	SGTA_HUMAN	H	242	ENSP00000221566:Q242H	ENSP00000221566:Q242H	Q	-	3	2	SGTA	2710266	0.076000	0.21285	0.015000	0.15790	0.184000	0.23303	-0.566000	0.05922	-1.052000	0.03222	-0.367000	0.07326	CAG		0.403	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		12	97	1	0	7.93312e-07	1	9.21973e-07	12	97				
PRKAG3	53632	broad.mit.edu	37	2	219692321	219692321	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219692321C>T	ENST00000529249.1	-	8	1167	c.852G>A	c.(850-852)ctG>ctA	p.L284L	PRKAG3_ENST00000545803.1_Silent_p.L100L|PRKAG3_ENST00000392098.3_Nonsense_Mutation_p.W269*|PRKAG3_ENST00000439262.2_Silent_p.L259L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	284	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	AGATGGAGACCAGAGGCTTGA	0.582																																						ENST00000392098.3																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(805-807)tGg>tAg		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							123.0	125.0	124.0					2																	219692321		2203	4300	6503	SO:0001819	synonymous_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219692321C>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.852G>A	2.37:g.219692321C>T						PRKAG3_ENST00000439262.2_Silent_p.L259L|PRKAG3_ENST00000545803.1_Silent_p.L100L|PRKAG3_ENST00000529249.1_Silent_p.L284L	p.W269*			Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	838	-		Renal(207;0.0474)	0					Q4QQG8|Q4V779|Q9NRL1	Nonsense_Mutation	SNP	ENST00000529249.1	37	c.806G>A	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608277	0.87258	.	.	ENSG00000115592	ENST00000392098	.	.	.	4.54	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8073	7.9245	0.29865	0.0:0.7422:0.0:0.2578	.	.	.	.	X	269	.	ENSP00000375947:W269X	W	-	2	0	PRKAG3	219400565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.781000	0.26774	0.520000	0.28426	0.655000	0.94253	TGG		0.582	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			32	56	0	0	0	1	0	32	56				
ZNF230	7773	broad.mit.edu	37	19	44515547	44515547	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44515547C>A	ENST00000429154.2	+	5	1584	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATGTGAGGACTGTGGGAAGC	0.378																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1354-1356)gaC>gaA		zinc finger protein 230							47.0	51.0	50.0					19																	44515547		2202	4299	6501	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515547C>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1356C>A	19.37:g.44515547C>A	ENSP00000409318:p.Asp452Glu						p.D452E	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1584	+		Prostate(69;0.0352)	452					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1356C>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	1.866	-0.461448	0.04508	.	.	ENSG00000159882	ENST00000429154	T	0.12879	2.64	2.55	-1.33	0.09172	.	.	.	.	.	T	0.03011	0.0089	N	0.01668	-0.77	0.27561	N	0.950199	B	0.11235	0.004	B	0.15052	0.012	T	0.43877	-0.9364	9	0.02654	T	1	.	3.3254	0.07064	0.4787:0.2249:0.2965:0.0	.	452	Q9UIE0	ZN230_HUMAN	E	452	ENSP00000409318:D452E	ENSP00000409318:D452E	D	+	3	2	ZNF230	49207387	0.000000	0.05858	0.002000	0.10522	0.819000	0.46315	-0.860000	0.04272	-0.049000	0.13379	0.205000	0.17691	GAC		0.378	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			19	42	1	0	1.64113e-05	1	1.85146e-05	19	42				
IL17RD	54756	broad.mit.edu	37	3	57203355	57203355	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57203355C>A	ENST00000320057.5	-	0	141							Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D						signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GCCCCCATGCCTAGCACTCTG	0.517																																						ENST00000320057.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16								interleukin 17 receptor D							109.0	94.0	99.0					3																	57203355		692	1591	2283			54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57203355C>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000320057.5:c.-402G>T	3.37:g.57203355C>A										Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	0	141	-								Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Translation_Start_Site	SNP	ENST00000320057.5	37																																																																																						0.517	IL17RD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316679.2	NM_017563		5	3	1	0	0.184627	1	0.186383	5	3				
PRTG	283659	broad.mit.edu	37	15	55929446	55929446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55929446C>T	ENST00000389286.4	-	15	2592	c.2545G>A	c.(2545-2547)Gtt>Att	p.V849I		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CGGGTCACAACTGTTTCTGGG	0.483																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2545-2547)Gtt>Att		protogenin							155.0	155.0	155.0					15																	55929446		1886	4099	5985	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55929446C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2545G>A	15.37:g.55929446C>T	ENSP00000373937:p.Val849Ile						p.V849I	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	15	2592	-			849			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000389286.4	37	c.2545G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310783	0.40895	.	.	ENSG00000166450	ENST00000389286	T	0.57436	0.4	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.072607	0.56097	D	0.000035	T	0.49236	0.1545	L	0.28014	0.82	0.80722	D	1	P	0.39576	0.679	B	0.44315	0.446	T	0.42413	-0.9453	10	0.35671	T	0.21	-15.8016	18.5934	0.91222	0.0:1.0:0.0:0.0	.	849	Q2VWP7	PRTG_HUMAN	I	849	ENSP00000373937:V849I	ENSP00000373937:V849I	V	-	1	0	PRTG	53716738	0.993000	0.37304	0.341000	0.25589	0.973000	0.67179	3.458000	0.53014	2.625000	0.88918	0.655000	0.94253	GTT		0.483	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		5	167	0	0	0	1	0	5	167				
DNAJA3	9093	broad.mit.edu	37	16	4487459	4487459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4487459G>T	ENST00000262375.6	+	3	479	c.402G>T	c.(400-402)aaG>aaT	p.K134N	DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000572139.1_3'UTR|DNAJA3_ENST00000355296.4_Missense_Mutation_p.K134N	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	134	J.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCAAGGAGAAGTTCTCCCAGC	0.443																																						ENST00000262375.6																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(400-402)aaG>aaT		DnaJ (Hsp40) homolog, subfamily A, member 3							108.0	83.0	92.0					16																	4487459		2197	4300	6497	SO:0001583	missense	9093				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding	g.chr16:4487459G>T	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.402G>T	16.37:g.4487459G>T	ENSP00000262375:p.Lys134Asn					DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000355296.4_Missense_Mutation_p.K134N|DNAJA3_ENST00000572139.1_3'UTR	p.K134N	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN			3	479	+			134			J.		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	c.402G>T	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192071	0.78902	.	.	ENSG00000103423	ENST00000262375;ENST00000355296	T;T	0.35048	1.33;1.33	5.4	2.4	0.29515	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.54596	-0.8270	10	0.87932	D	0	-20.23	9.7548	0.40498	0.2097:0.0:0.7903:0.0	.	134;134	Q96EY1-2;Q96EY1	.;DNJA3_HUMAN	N	134	ENSP00000262375:K134N;ENSP00000347445:K134N	ENSP00000262375:K134N	K	+	3	2	DNAJA3	4427460	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.291000	0.43540	0.661000	0.30985	0.455000	0.32223	AAG		0.443	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			3	28	1	0	0.004672	1	0.0049138	3	28				
SOX5	6660	broad.mit.edu	37	12	23696281	23696281	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23696281T>A	ENST00000451604.2	-	13	1736	c.1635A>T	c.(1633-1635)gaA>gaT	p.E545D	SOX5_ENST00000537393.1_Missense_Mutation_p.E510D|SOX5_ENST00000545921.1_Missense_Mutation_p.E535D|SOX5_ENST00000541536.1_Missense_Mutation_p.E424D|SOX5_ENST00000381381.2_Missense_Mutation_p.E424D|SOX5_ENST00000309359.1_Missense_Mutation_p.E532D|SOX5_ENST00000396007.2_Missense_Mutation_p.E159D|SOX5_ENST00000546136.1_Missense_Mutation_p.E532D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	545				E -> G (in Ref. 2; BAB85048). {ECO:0000305}.	cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCCTCGGGATTCCCTATAAA	0.448																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1594-1596)gaA>gaT		SRY (sex determining region Y)-box 5							127.0	120.0	122.0					12																	23696281		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696281T>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1635A>T	12.37:g.23696281T>A	ENSP00000398273:p.Glu545Asp					SOX5_ENST00000541536.1_Missense_Mutation_p.E424D|SOX5_ENST00000545921.1_Missense_Mutation_p.E535D|SOX5_ENST00000451604.2_Missense_Mutation_p.E545D|SOX5_ENST00000396007.2_Missense_Mutation_p.E159D|SOX5_ENST00000537393.1_Missense_Mutation_p.E510D|SOX5_ENST00000309359.1_Missense_Mutation_p.E532D|SOX5_ENST00000381381.2_Missense_Mutation_p.E424D	p.E532D			P35711	SOX5_HUMAN			12	1598	-			545					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1596A>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004167	0.74932	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.28;-4.34;-4.34;-4.28;-4.34;-4.34	6.17	3.79	0.43588	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	L	0.54323	1.7	0.29384	N	0.863102	B;D;B;D	0.67145	0.09;0.974;0.092;0.996	B;D;B;D	0.76071	0.075;0.953;0.05;0.987	D	0.92540	0.6041	10	0.15952	T	0.53	.	10.2829	0.43550	0.0:0.1906:0.0:0.8094	.	510;424;545;159	F5H0I3;P35711-4;P35711;P35711-3	.;.;SOX5_HUMAN;.	D	532;532;424;545;497;510;424;159;535	ENSP00000437487:E532D;ENSP00000308927:E532D;ENSP00000370788:E424D;ENSP00000398273:E545D;ENSP00000439832:E510D;ENSP00000441973:E424D;ENSP00000379328:E159D;ENSP00000443520:E535D	ENSP00000308927:E532D	E	-	3	2	SOX5	23587548	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.203000	0.42752	0.544000	0.28883	0.533000	0.62120	GAA		0.448	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		6	89	0	0	0	1	0	6	89				
XIRP2	129446	broad.mit.edu	37	2	168103716	168103716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168103716G>T	ENST00000409195.1	+	9	5903	c.5814G>T	c.(5812-5814)gaG>gaT	p.E1938D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1938D|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1716D|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1763					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCAAAGAGGTACATAAAG	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5812-5814)gaG>gaT		xin actin-binding repeat containing 2							48.0	45.0	46.0					2																	168103716		1833	4097	5930	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103716G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5814G>T	2.37:g.168103716G>T	ENSP00000386840:p.Glu1938Asp					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1716D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1938D|XIRP2_ENST00000420519.1_Intron	p.E1938D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5903	+			1763					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5814G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013468	0.19277	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.12	5.76	0.839	0.18907	.	0.220732	0.45606	D	0.000351	T	0.04679	0.0127	M	0.65975	2.015	0.38467	D	0.947364	D;D;B	0.56521	0.958;0.976;0.082	B;P;B	0.49085	0.395;0.6;0.04	T	0.46596	-0.9180	10	0.52906	T	0.07	-6.2854	1.4399	0.02352	0.3001:0.1345:0.4266:0.1388	.	1763;1763;1716	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	1938;1938;1716	ENSP00000386840:E1938D;ENSP00000295237:E1938D;ENSP00000387255:E1716D	ENSP00000295237:E1938D	E	+	3	2	XIRP2	167811962	0.114000	0.22134	0.844000	0.33320	0.166000	0.22503	-0.807000	0.04520	-0.123000	0.11745	-0.145000	0.13849	GAG		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	36	1	0	0.014758	1	0.0152625	5	36				
GANC	2595	broad.mit.edu	37	15	42638010	42638010	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42638010A>C	ENST00000318010.8	+	20	2524	c.2284A>C	c.(2284-2286)Atc>Ctc	p.I762L	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'Flank	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	762					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TACTGTAAAGATCCCAGTAGC	0.408																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2284-2286)Atc>Ctc		glucosidase, alpha; neutral C							209.0	181.0	190.0					15																	42638010		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42638010A>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2284A>C	15.37:g.42638010A>C	ENSP00000326227:p.Ile762Leu						p.I762L	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	20	2524	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	762					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2284A>C	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415073	0.25552	.	.	ENSG00000214013	ENST00000318010	D	0.82255	-1.59	5.91	0.29	0.15728	.	0.548611	0.20611	N	0.088971	T	0.57431	0.2053	N	0.04018	-0.295	0.43103	D	0.994791	B	0.02656	0.0	B	0.18263	0.021	T	0.33292	-0.9874	10	0.15952	T	0.53	-2.5192	5.1161	0.14834	0.6152:0.0:0.2584:0.1264	.	762	Q8TET4	GANC_HUMAN	L	762	ENSP00000326227:I762L	ENSP00000326227:I762L	I	+	1	0	GANC	40425302	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	0.371000	0.20450	0.468000	0.27243	0.533000	0.62120	ATC		0.408	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		43	67	0	0	0	1	0	43	67				
ATP1A1	476	broad.mit.edu	37	1	116929920	116929920	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929920C>A	ENST00000295598.5	+	4	446	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	ATP1A1_ENST00000537345.1_Missense_Mutation_p.S65Y|ATP1A1_ENST00000369496.4_Missense_Mutation_p.S34Y	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	65					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GGATTAACATCTGCTCGTGCA	0.507																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(193-195)tCt>tAt		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						75.0	70.0	72.0					1																	116929920		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116929920C>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.194C>A	1.37:g.116929920C>A	ENSP00000295598:p.Ser65Tyr					ATP1A1_ENST00000295598.5_Missense_Mutation_p.S65Y|ATP1A1_ENST00000369496.4_Missense_Mutation_p.S34Y	p.S65Y	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	4	557	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	65					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.194C>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273175	0.40194	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.34	3.36	0.38483	ATPase, P-type cation-transporter, N-terminal (2);	0.509984	0.24409	N	0.038776	T	0.75391	0.3843	M	0.80982	2.52	0.26014	N	0.981952	B;B	0.15473	0.01;0.013	B;B	0.31245	0.077;0.126	T	0.73920	-0.3830	10	0.59425	D	0.04	.	15.892	0.79305	0.0:0.7452:0.2548:0.0	.	65;65	F5H3A1;P05023	.;AT1A1_HUMAN	Y	34;65;65;34;64;34	ENSP00000400124:S34Y;ENSP00000295598:S65Y;ENSP00000445306:S65Y;ENSP00000358506:S34Y;ENSP00000358508:S34Y	ENSP00000295598:S65Y	S	+	2	0	ATP1A1	116731443	0.000000	0.05858	0.815000	0.32552	0.839000	0.47603	0.869000	0.27996	1.459000	0.47892	0.655000	0.94253	TCT		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		5	41	1	0	0.184627	1	0.186383	5	41				
PPP1R16B	26051	broad.mit.edu	37	20	37529326	37529326	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37529326G>T	ENST00000299824.1	+	5	759	c.570G>T	c.(568-570)caG>caT	p.Q190H	PPP1R16B_ENST00000373331.2_Splice_Site_p.Q190H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	190					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCATACCAGGGTAAGGGAG	0.552																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.e5+1		protein phosphatase 1, regulatory subunit 16B							91.0	64.0	73.0					20																	37529326		2203	4300	6503	SO:0001630	splice_region_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37529326G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.571+1G>T	20.37:g.37529326G>T						PPP1R16B_ENST00000373331.2_Splice_Site_p.Q190_splice	p.Q190_splice	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			5	759	+		Myeloproliferative disorder(115;0.00878)	190					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Splice_Site	SNP	ENST00000299824.1	37	c.571_splice	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370124|3.370124	0.61624|0.61624	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.52526|.	0.66;0.66|.	4.98|4.98	2.46|2.46	0.29980|0.29980	Ankyrin repeat-containing domain (3);|.	0.129411|.	0.50627|.	D|.	0.000117|.	T|T	0.53222|0.53222	0.1783|0.1783	L|L	0.43923|0.43923	1.385|1.385	0.43141|0.43141	D|D	0.994892|0.994892	B;B|.	0.32620|.	0.212;0.378|.	B;B|.	0.28232|.	0.087;0.087|.	T|T	0.43163|0.43163	-0.9408|-0.9408	10|5	0.48119|.	T|.	0.1|.	.|.	8.2842|8.2842	0.31920|0.31920	0.4846:0.0:0.5154:0.0|0.4846:0.0:0.5154:0.0	.|.	190;190|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	H|M	190|133	ENSP00000299824:Q190H;ENSP00000362428:Q190H|.	ENSP00000299824:Q190H|.	Q|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36962740|36962740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.021000|1.021000	0.30040|0.30040	0.482000|0.482000	0.27582|0.27582	-0.345000|-0.345000	0.07892|0.07892	CAG|AGG		0.552	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	Missense_Mutation	12	12	1	0	0.00010058	1	0.000111121	12	12				
IBTK	25998	broad.mit.edu	37	6	82925825	82925825	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82925825G>T	ENST00000306270.7	-	11	2118	c.1569C>A	c.(1567-1569)aaC>aaA	p.N523K	IBTK_ENST00000510291.1_Missense_Mutation_p.N523K|IBTK_ENST00000503631.1_Missense_Mutation_p.N523K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	523					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGATTGCAAAGTTGCATCCAC	0.338																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1567-1569)aaC>aaA		inhibitor of Bruton agammaglobulinemia tyrosine kinase							96.0	88.0	91.0					6																	82925825		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82925825G>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1569C>A	6.37:g.82925825G>T	ENSP00000305721:p.Asn523Lys					IBTK_ENST00000510291.1_Missense_Mutation_p.N523K|IBTK_ENST00000503631.1_Missense_Mutation_p.N523K	p.N523K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	11	2118	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	523					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1569C>A	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692458	0.68271	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.27890	1.81;1.64;1.81	6.06	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.73598	2.24	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.999;0.998	T	0.39623	-0.9605	10	0.46703	T	0.11	-14.7432	10.4304	0.44405	0.2366:0.0:0.7634:0.0	.	523;523;523;523	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	523	ENSP00000305721:N523K;ENSP00000422762:N523K;ENSP00000426405:N523K	ENSP00000305721:N523K	N	-	3	2	IBTK	82982544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.292000	0.33342	1.550000	0.49438	0.650000	0.86243	AAC		0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		19	45	1	0	1.64293e-13	1	2.0847e-13	19	45				
AHNAK2	113146	broad.mit.edu	37	14	105420882	105420882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105420882G>A	ENST00000333244.5	-	7	1025	c.906C>T	c.(904-906)gcC>gcT	p.A302A	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	302						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTGAGCTGGGCCTCTGTGT	0.652																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(904-906)gcC>gcT		AHNAK nucleoprotein 2							31.0	34.0	33.0					14																	105420882		2134	4246	6380	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420882G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.906C>T	14.37:g.105420882G>A							p.A302A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1025	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	302					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.906C>T	CCDS45177.1																																																																																				0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	12	0	0	0	1	0	5	12				
FGFRL1	53834	broad.mit.edu	37	4	1018775	1018775	+	Silent	SNP	C	C	T	rs140148549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018775C>T	ENST00000398484.2	+	8	1735	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	FGFRL1_ENST00000264748.6_Silent_p.A385A|FGFRL1_ENST00000504138.1_Silent_p.A385A|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Silent_p.A385A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	385					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCATCCCAGCCGGCGCTGTCT	0.697																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1153-1155)gcC>gcT		fibroblast growth factor receptor-like 1							25.0	29.0	28.0					4																	1018775		2199	4297	6496	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018775C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1155C>T	4.37:g.1018775C>T						FGFRL1_ENST00000264748.6_Silent_p.A385A|FGFRL1_ENST00000504138.1_Silent_p.A385A|FGFRL1_ENST00000510644.1_Silent_p.A385A	p.A385A			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	1735	+			385					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.1155C>T	CCDS3344.1																																																																																				0.697	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		12	16	0	0	0	1	0	12	16				
OCLN	100506658	broad.mit.edu	37	5	68805114	68805114	+	Missense_Mutation	SNP	G	G	A	rs116363086		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805114G>A	ENST00000355237.2	+	3	633	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.R66Q|OCLN_ENST00000380766.2_Missense_Mutation_p.R66Q|OCLN_ENST00000538151.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	66	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGTGATTCGGATCCTGTCT	0.478																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(196-198)cGg>cAg		occludin							188.0	181.0	183.0					5																	68805114		2203	4300	6503	SO:0001583	missense	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805114G>A	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.197G>A	5.37:g.68805114G>A	ENSP00000347379:p.Arg66Gln					OCLN_ENST00000380766.2_Missense_Mutation_p.R66Q|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.R66Q	p.R66Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	633	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	66			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.197G>A	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471778	0.84533	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.39997	1.05;1.05;1.05	6.04	6.04	0.98038	Marvel (1);MARVEL-like domain (1);	0.099770	0.64402	D	0.000003	T	0.45276	0.1334	M	0.71581	2.175	0.80722	D	1	D	0.56968	0.978	P	0.45167	0.472	T	0.51132	-0.8744	10	0.72032	D	0.01	-48.0227	9.3793	0.38304	0.1509:0.0:0.8491:0.0	.	66	Q16625	OCLN_HUMAN	Q	66	ENSP00000347379:R66Q;ENSP00000379719:R66Q;ENSP00000370143:R66Q	ENSP00000347379:R66Q	R	+	2	0	OCLN	68840870	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.781000	0.55394	2.873000	0.98535	0.563000	0.77884	CGG		0.478	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		62	91	0	0	0	1	0	62	91				
EGLN2	112398	broad.mit.edu	37	19	41307129	41307129	+	Missense_Mutation	SNP	C	C	T	rs140368149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41307129C>T	ENST00000593726.1	+	1	1680	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	218					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682																																						ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(652-654)Cgc>Tgc		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)	C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	50.0	54.0	52.0		652,652	4.1	1.0	19	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	EGLN2	NM_053046.3,NM_080732.3	180,180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	218/408,218/408	41307129	1,12999	2202	4298	6500	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41307129C>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.652C>T	19.37:g.41307129C>T	ENSP00000469686:p.Arg218Cys					EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C|RAB4B-EGLN2_ENST00000594136.1_3'UTR	p.R218C			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1680	+			218					A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.652C>T	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830995	0.71258	0.0	1.16E-4	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.26067	1.76;1.76	4.05	4.05	0.47172	Prolyl 4-hydroxylase, alpha subunit (1);	0.077318	0.49916	D	0.000135	T	0.17450	0.0419	L	0.29908	0.895	0.52099	D	0.999949	B	0.27559	0.181	B	0.24848	0.056	T	0.04976	-1.0914	10	0.38643	T	0.18	-10.4218	9.5003	0.39013	0.3315:0.6685:0.0:0.0	.	218	Q96KS0	EGLN2_HUMAN	C	218	ENSP00000307080:R218C;ENSP00000385253:R218C	ENSP00000307080:R218C	R	+	1	0	EGLN2	45998969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.981000	0.40628	2.263000	0.75096	0.591000	0.81541	CGC		0.682	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			25	47	0	0	0	1	0	25	47				
TJP1	7082	broad.mit.edu	37	15	30024971	30024971	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30024971G>A	ENST00000346128.6	-	14	2259	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	TJP1_ENST00000400011.2_Silent_p.G599G|TJP1_ENST00000545208.2_Silent_p.G595G|TJP1_ENST00000356107.6_Silent_p.G595G	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	595					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACGGTCTCCGCCTGCTGTTT	0.438																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(1783-1785)ggC>ggT		tight junction protein 1							45.0	45.0	45.0					15																	30024971		1829	4087	5916	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30024971G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1785C>T	15.37:g.30024971G>A						TJP1_ENST00000400011.2_Silent_p.G599G|TJP1_ENST00000545208.2_Silent_p.G595G|TJP1_ENST00000356107.6_Silent_p.G595G	p.G595G	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	14	2259	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	595					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.1785C>T	CCDS42007.1																																																																																				0.438	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		16	30	0	0	0	1	0	16	30				
ARHGEF4	50649	broad.mit.edu	37	2	131803000	131803000	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131803000G>T	ENST00000326016.5	+	13	2421	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q563H|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q574H|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	634					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAAGCAGCAGGTCACAGGGA	0.612																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(1900-1902)caG>caT		Rho guanine nucleotide exchange factor (GEF) 4							73.0	61.0	65.0					2																	131803000		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131803000G>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1902G>T	2.37:g.131803000G>T	ENSP00000316845:p.Gln634His					ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q563H|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q574H	p.Q634H	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	13	2421	+		Prostate(154;0.055)	634					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.1902G>T	CCDS2165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.618252|1.618252	0.28801|0.28801	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000532720|ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	.|T;T;T;T;T	.|0.69175	.|1.28;-0.38;-0.38;1.28;1.28	5.61|5.61	1.45|1.45	0.22620|0.22620	.|.	.|0.057571	.|0.64402	.|D	.|0.000002	T|T	0.35828|0.35828	0.0945|0.0945	N|N	0.03608|0.03608	-0.345|-0.345	0.26752|0.26752	N|N	0.970189|0.970189	.|B;B;B	.|0.15141	.|0.003;0.012;0.003	.|B;B;B	.|0.15052	.|0.005;0.012;0.005	T|T	0.15983|0.15983	-1.0418|-1.0418	5|10	.|0.28530	.|T	.|0.3	.|.	5.3934|5.3934	0.16257|0.16257	0.3364:0.1346:0.5289:0.0|0.3364:0.1346:0.5289:0.0	.|.	.|574;634;634	.|E9PEM0;Q9NR80-4;Q9NR80	.|.;.;ARHG4_HUMAN	C|H	251|634;634;634;574;563	.|ENSP00000316845:Q634H;ENSP00000376680:Q634H;ENSP00000432267:Q634H;ENSP00000387285:Q574H;ENSP00000348017:Q563H	.|ENSP00000316845:Q634H	G|Q	+|+	1|3	0|2	ARHGEF4|ARHGEF4	131519470|131519470	0.997000|0.997000	0.39634|0.39634	0.608000|0.608000	0.28969|0.28969	0.944000|0.944000	0.59088|0.59088	0.555000|0.555000	0.23422|0.23422	-0.013000|-0.013000	0.14199|0.14199	0.462000|0.462000	0.41574|0.41574	GGT|CAG		0.612	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			4	33	1	0	0.000602214	1	0.000649039	4	33				
SCIN	85477	broad.mit.edu	37	7	12680116	12680116	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12680116C>T	ENST00000297029.5	+	11	1656	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	SCIN_ENST00000519209.1_Silent_p.L272L|SCIN_ENST00000445618.2_Silent_p.L272L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	519	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCGGAGAAACCTGGCATCTAT	0.448																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1555-1557)Ctg>Ttg		scinderin							54.0	52.0	53.0					7																	12680116		1891	4114	6005	SO:0001819	synonymous_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12680116C>T	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1555C>T	7.37:g.12680116C>T						SCIN_ENST00000445618.2_Silent_p.L272L|SCIN_ENST00000519209.1_Silent_p.L272L	p.L519L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	11	1656	+			519			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	37	c.1555C>T	CCDS47545.1																																																																																				0.448	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		15	7	0	0	0	1	0	15	7				
KCNJ6	3763	broad.mit.edu	37	21	39087049	39087049	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39087049G>A	ENST00000609713.1	-	3	1000	c.411C>T	c.(409-411)aaC>aaT	p.N137N	KCNJ6_ENST00000288309.6_Silent_p.N137N|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	137					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGACGAACCCGTTGAGGTTGG	0.468																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(409-411)aaC>aaT		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						109.0	112.0	111.0					21																	39087049		1857	4106	5963	SO:0001819	synonymous_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087049G>A	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.411C>T	21.37:g.39087049G>A						KCNJ6_ENST00000288309.6_Silent_p.N137N	p.N137N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	1000	-			137					Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	c.411C>T	CCDS42927.1																																																																																				0.468	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		33	58	0	0	0	1	0	33	58				
PITX1	5307	broad.mit.edu	37	5	134367153	134367153	+	Missense_Mutation	SNP	G	G	A	rs139844695		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134367153G>A	ENST00000265340.7	-	2	631	c.215C>T	c.(214-216)gCg>gTg	p.A72V	PITX1_ENST00000506438.1_Missense_Mutation_p.A72V|CTC-349C3.1_ENST00000432382.3_5'Flank	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	72					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGTGCCTCCCGCACCACTGTC	0.677																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(214-216)gCg>gTg		paired-like homeodomain 1		G	VAL/ALA	0,4404		0,0,2202	45.0	36.0	39.0		215	3.4	0.7	5	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	missense	PITX1	NM_002653.4	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	72/315	134367153	1,13001	2202	4299	6501	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134367153G>A	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.215C>T	5.37:g.134367153G>A	ENSP00000265340:p.Ala72Val					PITX1_ENST00000506438.1_Missense_Mutation_p.A72V	p.A72V	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	2	631	-			72					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.215C>T	CCDS4182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.18|10.18	1.278322|1.278322	0.23307|0.23307	0.0|0.0	1.16E-4|1.16E-4	ENSG00000069011|ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253;ENST00000502676|ENST00000503586	D;D;D;D|.	0.93953|.	-2.68;-2.68;-3.32;-2.49|.	3.43|3.43	3.43|3.43	0.39272|0.39272	Homeodomain-related (1);|.	0.709759|.	0.12067|.	N|.	0.502568|.	T|T	0.24314|0.24314	0.0589|0.0589	N|N	0.14661|0.14661	0.345|0.345	0.21386|0.21386	N|N	0.999705|0.999705	B|.	0.28801|.	0.223|.	B|.	0.09377|.	0.004|.	T|T	0.13202|0.13202	-1.0518|-1.0518	10|5	0.26408|.	T|.	0.33|.	.|.	10.657|10.657	0.45680|0.45680	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72|.	P78337|.	PITX1_HUMAN|.	V|W	72|113	ENSP00000265340:A72V;ENSP00000427542:A72V;ENSP00000422908:A72V;ENSP00000423624:A72V|.	ENSP00000265340:A72V|.	A|R	-|-	2|1	0|2	PITX1|PITX1	134395052|134395052	0.010000|0.010000	0.17322|0.17322	0.659000|0.659000	0.29680|0.29680	0.440000|0.440000	0.31957|0.31957	1.707000|1.707000	0.37888|0.37888	2.228000|2.228000	0.72767|0.72767	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.677	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			9	14	0	0	0	1	0	9	14				
FARS2	10667	broad.mit.edu	37	6	5545496	5545496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:5545496C>T	ENST00000324331.6	+	5	1324	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	FARS2_ENST00000274680.4_Missense_Mutation_p.R330C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	330					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCCTGATATCCGTCTCTTCTG	0.473																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(988-990)Cgt>Tgt		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						207.0	201.0	203.0					6																	5545496		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5545496C>T	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.988C>T	6.37:g.5545496C>T	ENSP00000316335:p.Arg330Cys					FARS2_ENST00000274680.4_Missense_Mutation_p.R330C	p.R330C			O95363	SYFM_HUMAN			5	1324	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	330					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.988C>T	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867687	0.91587	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	D;D	0.83163	-1.69;-1.69	5.27	5.27	0.74061	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.064498	0.64402	N	0.000006	D	0.94870	0.8342	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97007	0.9733	10	0.87932	D	0	-11.8551	17.8691	0.88806	0.0:1.0:0.0:0.0	.	330	O95363	SYFM_HUMAN	C	330	ENSP00000274680:R330C;ENSP00000316335:R330C	ENSP00000274680:R330C	R	+	1	0	FARS2	5490495	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.634000	0.67833	2.445000	0.82738	0.563000	0.77884	CGT		0.473	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		73	119	0	0	0	1	0	73	119				
EBAG9	9166	broad.mit.edu	37	8	110575634	110575634	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110575634C>T	ENST00000337573.5	+	7	821				EBAG9_ENST00000531677.1_Missense_Mutation_p.T177I|EBAG9_ENST00000395785.2_Intron	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9						regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGATCCAGGACCAATGTATGT	0.443																																						ENST00000531677.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(529-531)aCc>aTc		estrogen receptor binding site associated, antigen, 9							621.0	559.0	578.0					8																	110575634		876	1991	2867	SO:0001627	intron_variant	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110575634C>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.522-1034C>T	8.37:g.110575634C>T						EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron	p.T177I			O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		6	530	+			174					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.530C>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	9.478	1.097521	0.20552	.	.	ENSG00000147654	ENST00000531677	.	.	.	4.03	2.14	0.27477	.	1.013000	0.07920	N	0.975808	T	0.39655	0.1086	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41106	-0.9527	6	0.66056	D	0.02	-28.2864	5.2402	0.15467	0.1995:0.6936:0.0:0.1068	.	.	.	.	I	177	.	ENSP00000432082:T177I	T	+	2	0	EBAG9	110644810	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.077000	0.11394	0.597000	0.29811	0.655000	0.94253	ACC		0.443	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		102	180	0	0	0	1	0	102	180				
ADAMTS5	11096	broad.mit.edu	37	21	28338410	28338410	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28338410C>A	ENST00000284987.5	-	1	422	c.301G>T	c.(301-303)Gac>Tac	p.D101Y		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	101					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTCCAGGTCCAAGAGGAAC	0.682																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(301-303)Gac>Tac		ADAM metallopeptidase with thrombospondin type 1 motif, 5							56.0	52.0	54.0					21																	28338410		2201	4295	6496	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338410C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.301G>T	21.37:g.28338410C>A	ENSP00000284987:p.Asp101Tyr						p.D101Y	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	422	-			101					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.301G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330724	0.81690	.	.	ENSG00000154736	ENST00000284987	T	0.07567	3.18	4.32	4.32	0.51571	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.34521	1.04	0.58432	D	0.999995	D	0.76494	0.999	D	0.69824	0.966	T	0.01587	-1.1318	10	0.72032	D	0.01	.	15.7568	0.78037	0.0:1.0:0.0:0.0	.	101	Q9UNA0	ATS5_HUMAN	Y	101	ENSP00000284987:D101Y	ENSP00000284987:D101Y	D	-	1	0	ADAMTS5	27260281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.189000	0.77747	2.213000	0.71641	0.563000	0.77884	GAC		0.682	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			35	39	1	0	3.76114e-14	1	4.79375e-14	35	39				
ZSCAN1	284312	broad.mit.edu	37	19	58549309	58549309	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58549309A>G	ENST00000282326.1	+	3	352	c.105A>G	c.(103-105)gaA>gaG	p.E35E	ZSCAN1_ENST00000601162.1_Silent_p.E35E|ZSCAN1_ENST00000391700.1_Silent_p.E35E	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	35					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACACCGAAGCCCAGCGTC	0.716																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(103-105)gaA>gaG		zinc finger and SCAN domain containing 1							12.0	15.0	14.0					19																	58549309		2152	4244	6396	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549309A>G	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.105A>G	19.37:g.58549309A>G						ZSCAN1_ENST00000391700.1_Silent_p.E35E|ZSCAN1_ENST00000601162.1_Silent_p.E35E	p.E35E	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	352	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	35					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.105A>G	CCDS12969.1																																																																																				0.716	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		3	10	0	0	0	1	0	3	10				
MTHFD1	4522	broad.mit.edu	37	14	64920513	64920513	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920513C>T	ENST00000545908.1	+	25	2896	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.8_Silent_p.I833I|ZBTB25_ENST00000555424.1_Intron|MTHFD1_ENST00000556284.1_3'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	833	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CACAGAAGATCTATGGAGCAG	0.428																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2497-2499)atC>atT		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						171.0	133.0	145.0					14																	64920513		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64920513C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2667C>T	14.37:g.64920513C>T						ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000545908.1_Silent_p.I889I|MTHFD1_ENST00000216605.7_Silent_p.I889I|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron	p.I833I	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	25	2886	+			833			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.2499C>T																																																																																					0.428	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			7	39	0	0	0	1	0	7	39				
ZNF283	284349	broad.mit.edu	37	19	44339668	44339668	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44339668C>A	ENST00000324461.7	+	5	431	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593268.1_Missense_Mutation_p.S45Y|ZNF283_ENST00000588797.1_5'UTR|ZNF283_ENST00000593164.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000590950.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000310738.8_Missense_Mutation_p.S9Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCTGGCTTTTCTGGATTCTGT	0.428																																						ENST00000324461.7																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(133-135)tCt>tAt		zinc finger protein 283							133.0	131.0	132.0					19																	44339668		1956	4125	6081	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44339668C>A	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.134C>A	19.37:g.44339668C>A	ENSP00000327314:p.Ser45Tyr					ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593268.1_Missense_Mutation_p.S45Y|ZNF283_ENST00000593164.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000590950.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000310738.8_Missense_Mutation_p.S9Y|ZNF283_ENST00000588797.1_5'UTR	p.S45Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			5	431	+		Prostate(69;0.0352)	45					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.134C>A	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402702	0.42613	.	.	ENSG00000167637	ENST00000324461;ENST00000310738	T;T	0.07216	3.21;4.6	3.8	3.8	0.43715	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.24273	N	0.995239	D	0.59767	0.986	P	0.57679	0.825	T	0.32693	-0.9897	9	0.48119	T	0.1	.	11.8874	0.52610	0.0:1.0:0.0:0.0	.	45	Q8N7M2	ZN283_HUMAN	Y	45;9	ENSP00000327314:S45Y;ENSP00000312519:S9Y	ENSP00000312519:S9Y	S	+	2	0	ZNF283	49031508	0.993000	0.37304	0.998000	0.56505	0.988000	0.76386	0.603000	0.24149	2.072000	0.62099	0.655000	0.94253	TCT		0.428	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		4	8	1	0	0.150653	1	0.152692	4	8				
C12orf50	160419	broad.mit.edu	37	12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379716G>A	ENST00000298699.2	-	11	1217	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_ENST00000550553.1_Missense_Mutation_p.A307V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478																																						ENST00000298699.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(1036-1038)gCg>gTg		chromosome 12 open reading frame 50							215.0	204.0	208.0					12																	88379716		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88379716G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1037C>T	12.37:g.88379716G>A	ENSP00000298699:p.Ala346Val					C12orf50_ENST00000550553.1_Missense_Mutation_p.A307V	p.A346V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			11	1217	-			346					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.1037C>T	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272595	0.23221	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.30448	1.53;1.53	5.91	5.01	0.66863	.	0.719361	0.12995	N	0.422145	T	0.21841	0.0526	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.31680	0.228;0.335	B;B	0.22386	0.039;0.038	T	0.12142	-1.0559	10	0.49607	T	0.09	.	13.5603	0.61784	0.0:0.0:0.8439:0.1561	.	361;346	G3V208;Q8NA57	.;CL050_HUMAN	V	346;307;361	ENSP00000298699:A346V;ENSP00000448344:A307V	ENSP00000298699:A346V	A	-	2	0	C12orf50	86903847	0.631000	0.27164	0.388000	0.26195	0.048000	0.14542	3.890000	0.56220	1.466000	0.48025	0.650000	0.86243	GCG		0.478	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		10	126	0	0	0	1	0	10	126				
SLC8A2	6543	broad.mit.edu	37	19	47969296	47969296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969296C>T	ENST00000236877.6	-	2	760	c.365G>A	c.(364-366)cGc>cAc	p.R122H	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	122					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATTCCAGATGCGAACGGTGCC	0.587																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(364-366)cGc>cAc		solute carrier family 8 (sodium/calcium exchanger), member 2							109.0	66.0	81.0					19																	47969296		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969296C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.365G>A	19.37:g.47969296C>T	ENSP00000236877:p.Arg122His					SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	p.R122H	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	760	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	122					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.365G>A	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783365	0.90282	.	.	ENSG00000118160	ENST00000236877	T	0.62941	-0.01	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85526	0.1206	10	0.87932	D	0	.	15.6004	0.76620	0.0:1.0:0.0:0.0	.	122	Q9UPR5	NAC2_HUMAN	H	122	ENSP00000236877:R122H	ENSP00000236877:R122H	R	-	2	0	SLC8A2	52661108	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.597000	0.82733	2.210000	0.71456	0.462000	0.41574	CGC		0.587	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			8	28	0	0	0	1	0	8	28				
DOCK5	80005	broad.mit.edu	37	8	25159865	25159865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25159865C>T	ENST00000276440.7	+	10	915	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOCK5_ENST00000481100.1_Missense_Mutation_p.R291W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	291					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCTCATCCGGCCCCGCGT	0.557																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(871-873)Cgg>Tgg		dedicator of cytokinesis 5							98.0	79.0	85.0					8																	25159865		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25159865C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.871C>T	8.37:g.25159865C>T	ENSP00000276440:p.Arg291Trp					DOCK5_ENST00000481100.1_Missense_Mutation_p.R291W	p.R291W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	10	915	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	291					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.871C>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.992478|3.992478	0.74703|0.74703	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000481100;ENST00000276440	.|T;T	.|0.18657	.|2.2;2.2	5.55|5.55	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49745|0.49745	0.1575|0.1575	M|M	0.86028|0.86028	2.79|2.79	0.46521|0.46521	D|D	0.999089|0.999089	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.59799|0.59799	-0.7386|-0.7386	5|10	.|0.87932	.|D	.|0	.|.	13.9368|13.9368	0.64029|0.64029	0.3666:0.6334:0.0:0.0|0.3666:0.6334:0.0:0.0	.|.	.|66;291	.|Q68DL4;Q9H7D0	.|.;DOCK5_HUMAN	L|W	62|291	.|ENSP00000429737:R291W;ENSP00000276440:R291W	.|ENSP00000276440:R291W	P|R	+|+	2|1	0|2	DOCK5|DOCK5	25215782|25215782	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.769000|0.769000	0.26604|0.26604	1.316000|1.316000	0.45131|0.45131	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.557	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		6	23	0	0	0	1	0	6	23				
SYNJ1	8867	broad.mit.edu	37	21	34074316	34074316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34074316C>T	ENST00000322229.7	-	2	165	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SYNJ1_ENST00000382499.2_Missense_Mutation_p.V95I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V95I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V56I			O43426	SYNJ1_HUMAN	synaptojanin 1	56					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCATCCAGTACTTTGGAGTAT	0.323																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(283-285)Gta>Ata		synaptojanin 1							208.0	199.0	202.0					21																	34074316		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34074316C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.166G>A	21.37:g.34074316C>T	ENSP00000322234:p.Val56Ile					SYNJ1_ENST00000382491.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V95I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V56I	p.V95I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			3	282	-			56					O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.283G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178692	0.38511	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	D;D;D;D;D;D	0.93953	-2.46;-3.32;-3.32;-2.52;-2.5;-2.31	5.2	5.2	0.72013	.	0.150573	0.52532	D	0.000066	D	0.89860	0.6837	L	0.32530	0.975	0.47994	D	0.999561	B;B;B;B;B	0.24721	0.016;0.017;0.028;0.046;0.11	B;B;B;B;B	0.25506	0.007;0.006;0.034;0.061;0.016	D	0.85842	0.1398	10	0.27082	T	0.32	.	19.115	0.93334	0.0:1.0:0.0:0.0	.	56;95;56;56;56	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	56;56;95;95;56;56;56	ENSP00000371931:V56I;ENSP00000349903:V56I;ENSP00000371939:V95I;ENSP00000409667:V95I;ENSP00000322234:V56I;ENSP00000413649:V56I	ENSP00000322234:V56I	V	-	1	0	SYNJ1	32996187	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	3.552000	0.53705	2.580000	0.87095	0.467000	0.42956	GTA		0.323	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				46	77	0	0	0	1	0	46	77				
PCED1B	91523	broad.mit.edu	37	12	47629976	47629976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47629976C>A	ENST00000546455.1	+	4	1861	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	PCED1B_ENST00000432328.1_Missense_Mutation_p.P377H|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	377	Pro-rich.						hydrolase activity (GO:0016787)										ATGGTTGGTCCTCAGCTGCCT	0.532																																						ENST00000546455.1																			0											c.(1129-1131)cCt>cAt		PC-esterase domain containing 1B							148.0	141.0	144.0					12																	47629976		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629976C>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1130C>A	12.37:g.47629976C>A	ENSP00000446688:p.Pro377His					PCED1B_ENST00000432328.1_Missense_Mutation_p.P377H	p.P377H							4	1861	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1130C>A	CCDS8752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.543381|2.543381	0.45280|0.45280	.|.	.|.	ENSG00000179715|ENSG00000179715	ENST00000330951|ENST00000546455;ENST00000432328	.|T;T	.|0.57752	.|0.38;0.38	4.04|4.04	3.12|3.12	0.35913|0.35913	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|T	0.52837|0.52837	0.1759|0.1759	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.57371	.|0.819	T|T	0.42899|0.42899	-0.9424|-0.9424	6|10	0.87932|0.66056	D|D	0|0.02	-13.0549|-13.0549	9.7568|9.7568	0.40508|0.40508	0.0:0.7902:0.2098:0.0|0.0:0.7902:0.2098:0.0	.|.	.|377	.|Q96HM7	.|F113B_HUMAN	I|H	221|377	.|ENSP00000446688:P377H;ENSP00000396040:P377H	ENSP00000328560:L221I|ENSP00000396040:P377H	L|P	+|+	1|2	0|0	FAM113B|FAM113B	45916243|45916243	0.009000|0.009000	0.17119|0.17119	0.003000|0.003000	0.11579|0.11579	0.016000|0.016000	0.09150|0.09150	1.612000|1.612000	0.36889|0.36889	1.253000|1.253000	0.44018|0.44018	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.532	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		19	62	1	0	4.96729e-08	1	5.9048e-08	19	62				
CD180	4064	broad.mit.edu	37	5	66480139	66480139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66480139G>T	ENST00000256447.4	-	3	689	c.532C>A	c.(532-534)Ctg>Atg	p.L178M		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	178					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGAAAATCCAGTACTTTCAGA	0.418																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(532-534)Ctg>Atg		CD180 molecule							98.0	93.0	95.0					5																	66480139		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66480139G>T	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.532C>A	5.37:g.66480139G>T	ENSP00000256447:p.Leu178Met						p.L178M	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	689	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	178					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.532C>A	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235958	0.39498	.	.	ENSG00000134061	ENST00000256447	D	0.92699	-3.09	5.92	2.22	0.28083	.	0.000000	0.53938	D	0.000046	D	0.95421	0.8513	M	0.89287	3.02	0.40832	D	0.983598	D	0.89917	1.0	D	0.87578	0.998	D	0.93210	0.6599	10	0.66056	D	0.02	.	6.0701	0.19885	0.2591:0.0:0.6188:0.1221	.	178	Q99467	CD180_HUMAN	M	178	ENSP00000256447:L178M	ENSP00000256447:L178M	L	-	1	2	CD180	66515895	0.706000	0.27856	0.889000	0.34880	0.577000	0.36160	0.917000	0.28665	0.135000	0.18707	-0.140000	0.14226	CTG		0.418	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		37	75	1	0	5.71845e-15	1	7.32261e-15	37	75				
MIR380	494329	broad.mit.edu	37	14	101491962	101491962	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101491962C>T	ENST00000362112.2	-	0	0				MIR758_ENST00000390227.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR411_ENST00000362239.2_RNA|MIR299_ENST00000385016.2_RNA|MIR329-1_ENST00000385028.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR323A_ENST00000362199.1_RNA	NR_029872.1				microRNA 380																		TGACGTAGGACACATGGTCTA	0.498																																						ENST00000408818.1																			0																				241.0	211.0	220.0					14																	101491962		1568	3582	5150			0							g.chr14:101491962C>T			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101491962C>T								NR_031713.1						0	62	+									RNA	SNP	ENST00000362112.2	37																																																																																						0.498	MIR380-201	KNOWN	basic	miRNA	miRNA		NR_029872		21	43	0	0	0	1	0	21	43				
ALG8	79053	broad.mit.edu	37	11	77825382	77825382	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77825382G>T	ENST00000299626.5	-	6	674	c.603C>A	c.(601-603)atC>atA	p.I201I	ALG8_ENST00000376156.3_Silent_p.I201I|ALG8_ENST00000532552.2_Intron	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	201					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CATAGAGGTAGATATGCTTGA	0.363																																						ENST00000376156.3																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30						c.(601-603)atC>atA		ALG8, alpha-1,3-glucosyltransferase							107.0	99.0	101.0					11																	77825382		2200	4292	6492	SO:0001819	synonymous_variant	79053				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr11:77825382G>T	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.603C>A	11.37:g.77825382G>T						ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Silent_p.I201I	p.I201I	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		6	606	-	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		201					A6NDW6|O60860	Silent	SNP	ENST00000299626.5	37	c.603C>A	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733797	0.30684	.	.	ENSG00000159063	ENST00000532306;ENST00000529139	.	.	.	5.21	3.13	0.36017	.	.	.	.	.	T	0.58821	0.2149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52548	-0.8561	4	.	.	.	-13.8334	9.3709	0.38252	0.1984:0.0:0.8016:0.0	.	.	.	.	Y	75;46	.	.	S	-	2	0	ALG8	77503030	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.279000	0.43435	0.522000	0.28464	0.467000	0.42956	TCT		0.363	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		14	41	1	0	6.31663e-08	1	7.49729e-08	14	41				
TRABD2A	129293	broad.mit.edu	37	2	85097653	85097653	+	Missense_Mutation	SNP	C	C	T	rs371865663		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85097653C>T	ENST00000409520.2	-	2	407	c.365G>A	c.(364-366)cGc>cAc	p.R122H	TRABD2A_ENST00000409133.1_Missense_Mutation_p.R122H|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R122H	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	122					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										GCGCTTGAGGCGGCAGTAGAT	0.577																																						ENST00000335459.5																			0											c.(364-366)cGc>cAc		TraB domain containing 2A		C	HIS/ARG	1,4227		0,1,2113	49.0	53.0	51.0		365	1.6	0.8	2		51	0,8458		0,0,4229	no	missense	C2orf89	NM_001080824.1	29	0,1,6342	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging	122/457	85097653	1,12685	2114	4229	6343	SO:0001583	missense	129293							g.chr2:85097653C>T	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.365G>A	2.37:g.85097653C>T	ENSP00000387075:p.Arg122His					TRABD2A_ENST00000409520.2_Missense_Mutation_p.R122H|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R122H	p.R122H	NM_001080824.1	NP_001074293.1					2	570	-								B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.365G>A		.	.	.	.	.	.	.	.	.	.	C	18.51	3.639637	0.67244	2.37E-4	0.0	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.26373	1.74;1.74;1.74	3.51	1.65	0.23941	.	0.169259	0.36200	N	0.002721	T	0.44561	0.1299	.	.	.	0.36882	D	0.889448	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.46373	-0.9196	9	0.66056	D	0.02	.	6.577	0.22573	0.0:0.7435:0.0:0.2565	.	122;122;122	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	H	122	ENSP00000335004:R122H;ENSP00000387075:R122H;ENSP00000387183:R122H	ENSP00000335004:R122H	R	-	2	0	C2orf89	84951164	0.979000	0.34478	0.817000	0.32601	0.838000	0.47535	3.018000	0.49625	0.178000	0.19917	0.455000	0.32223	CGC		0.577	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		12	27	0	0	0	1	0	12	27				
KAT6B	23522	broad.mit.edu	37	10	76741602	76741602	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76741602T>G	ENST00000287239.4	+	11	2778	c.2289T>G	c.(2287-2289)atT>atG	p.I763M	KAT6B_ENST00000372725.1_Missense_Mutation_p.I471M|KAT6B_ENST00000372714.1_Missense_Mutation_p.I471M|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.I580M|KAT6B_ENST00000372724.1_Missense_Mutation_p.I471M	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	763	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTAAAAATATTTTGCTAAGAC	0.318																																						ENST00000287239.4																			0											c.(2287-2289)atT>atG		K(lysine) acetyltransferase 6B							40.0	46.0	44.0					10																	76741602		2203	4297	6500	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76741602T>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2289T>G	10.37:g.76741602T>G	ENSP00000287239:p.Ile763Met					KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.I471M|KAT6B_ENST00000372711.1_Missense_Mutation_p.I580M|KAT6B_ENST00000372725.1_Missense_Mutation_p.I471M|KAT6B_ENST00000372714.1_Missense_Mutation_p.I471M	p.I763M	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			11	2778	+			763			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2289T>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	9.602	1.128891	0.21041	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77877	-1.12;-1.12;-1.13;-1.12;-1.13	5.74	3.33	0.38152	.	0.000000	0.46145	D	0.000303	T	0.77765	0.4179	N	0.25426	0.745	0.49213	D	0.999764	D;P;D	0.71674	0.998;0.54;0.958	D;B;D	0.79784	0.993;0.363;0.934	T	0.75354	-0.3347	10	0.56958	D	0.05	-10.1224	7.2257	0.26014	0.2549:0.0:0.1332:0.6119	.	580;471;763	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	M	471;471;763;471;580	ENSP00000361810:I471M;ENSP00000361809:I471M;ENSP00000287239:I763M;ENSP00000361799:I471M;ENSP00000361796:I580M	ENSP00000287239:I763M	I	+	3	3	KAT6B	76411608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.823000	0.39062	0.401000	0.25424	0.533000	0.62120	ATT		0.318	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	63	0	0	0	1	0	6	63				
SALL1	6299	broad.mit.edu	37	16	51175341	51175341	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:51175341C>G	ENST00000251020.4	-	2	825	c.792G>C	c.(790-792)ttG>ttC	p.L264F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.L167F|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	264					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGATGTTGGCAAGTCTGCAT	0.488																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(499-501)ttG>ttC		spalt-like transcription factor 1							87.0	88.0	87.0					16																	51175341		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175341C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.792G>C	16.37:g.51175341C>G	ENSP00000251020:p.Leu264Phe					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L264F	p.L167F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	932	-		all_cancers(37;0.0322)	264					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.501G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	2.964	-0.213964	0.06101	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07327	3.2;3.2	4.75	3.8	0.43715	.	0.243060	0.39020	N	0.001482	T	0.07908	0.0198	L	0.36672	1.1	0.39222	D	0.963521	B	0.02656	0.0	B	0.06405	0.002	T	0.18335	-1.0340	10	0.30854	T	0.27	.	12.8622	0.57920	0.0:0.9213:0.0:0.0787	.	264	Q9NSC2	SALL1_HUMAN	F	264;167;228	ENSP00000251020:L264F;ENSP00000407914:L167F	ENSP00000251020:L264F	L	-	3	2	SALL1	49732842	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	1.880000	0.39628	1.206000	0.43276	0.491000	0.48974	TTG		0.488	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		4	96	0	0	0	1	0	4	96				
FAM186B	84070	broad.mit.edu	37	12	49992709	49992709	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49992709T>C	ENST00000257894.2	-	5	2354	c.2193A>G	c.(2191-2193)gtA>gtG	p.V731V	FAM186B_ENST00000544141.1_Silent_p.V641V|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	731						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATGATTTGTACATGGTTGA	0.507																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1921-1923)gtA>gtG		family with sequence similarity 186, member B							106.0	91.0	96.0					12																	49992709		2203	4300	6503	SO:0001819	synonymous_variant	84070					protein complex		g.chr12:49992709T>C	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2193A>G	12.37:g.49992709T>C						FAM186B_ENST00000257894.2_Silent_p.V731V|FAM186B_ENST00000551047.1_Intron	p.V641V			Q8IYM0	F186B_HUMAN			5	2522	-			731					B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	ENST00000257894.2	37	c.1923A>G	CCDS8788.1																																																																																				0.507	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		7	39	0	0	0	1	0	7	39				
SLC16A4	9122	broad.mit.edu	37	1	110921953	110921953	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110921953G>A	ENST00000369779.4	-	6	801	c.552C>T	c.(550-552)atC>atT	p.I184I	SLC16A4_ENST00000437429.2_Silent_p.I74I|SLC16A4_ENST00000541986.1_Silent_p.I122I|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Silent_p.I136I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	184					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AATTCAATGCGATAGCTCCAA	0.378																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(550-552)atC>atT		solute carrier family 16, member 4	Pyruvic acid(DB00119)						57.0	55.0	56.0					1																	110921953		2203	4300	6503	SO:0001819	synonymous_variant	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110921953G>A	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.552C>T	1.37:g.110921953G>A						SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000541986.1_Silent_p.I122I|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000472422.2_Silent_p.I136I|SLC16A4_ENST00000437429.2_Silent_p.I74I	p.I184I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	801	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	184					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Silent	SNP	ENST00000369779.4	37	c.552C>T	CCDS823.1																																																																																				0.378	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		19	44	0	0	0	1	0	19	44				
DENND1C	79958	broad.mit.edu	37	19	6467603	6467603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467603G>A	ENST00000381480.2	-	23	2430	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	DENND1C_ENST00000543576.1_Missense_Mutation_p.S729F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	773					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGTAGCAGGGGAATTCAGGGC	0.617																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(2317-2319)tCc>tTc		DENN/MADD domain containing 1C							35.0	38.0	37.0					19																	6467603		1910	4132	6042	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6467603G>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2318C>T	19.37:g.6467603G>A	ENSP00000370889:p.Ser773Phe					DENND1C_ENST00000543576.1_Missense_Mutation_p.S729F	p.S773F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			23	2430	-			773					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.2318C>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239540	0.22711	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.10668	3.02;2.85	3.49	1.23	0.21249	.	1.355730	0.05390	N	0.538893	T	0.08223	0.0205	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38499	-0.9658	10	0.62326	D	0.03	-2.9353	4.7938	0.13261	0.1273:0.2222:0.6504:0.0	.	773	Q8IV53	DEN1C_HUMAN	F	773;729	ENSP00000370889:S773F;ENSP00000437805:S729F	ENSP00000370889:S773F	S	-	2	0	DENND1C	6418603	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.451000	0.21779	0.276000	0.22118	0.306000	0.20318	TCC		0.617	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		16	20	0	0	0	1	0	16	20				
TNFRSF21	27242	broad.mit.edu	37	6	47221096	47221096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47221096G>A	ENST00000296861.2	-	4	1798	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	469	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TCGGGGCCCCGGATGGTCCAG	0.607																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1405-1407)Cgg>Tgg		tumor necrosis factor receptor superfamily, member 21							51.0	46.0	48.0					6																	47221096		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47221096G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1405C>T	6.37:g.47221096G>A	ENSP00000296861:p.Arg469Trp						p.R469W	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		4	1798	-			469			Death.		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1405C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892320	0.91889	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.87256	-2.23	6.16	5.27	0.74061	Death (3);DEATH-like (2);	0.052030	0.85682	D	0.000000	D	0.85423	0.5693	N	0.19112	0.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	D	0.89290	0.3618	10	0.87932	D	0	.	14.742	0.69464	0.0:0.0:0.737:0.263	.	469	O75509	TNR21_HUMAN	W	469;158	ENSP00000296861:R469W	ENSP00000296861:R469W	R	-	1	2	TNFRSF21	47329055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.308000	0.65768	1.557000	0.49525	0.650000	0.86243	CGG		0.607	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		4	14	0	0	0	1	0	4	14				
CEMIP	57214	broad.mit.edu	37	15	81234667	81234667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234667G>A	ENST00000394685.3	+	27	4107	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.A1230T|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A1230T			Q8WUJ3	CEMIP_HUMAN		1230					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACGACTTCGCTTACATTGA	0.483																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3688-3690)Gct>Act		KIAA1199							77.0	76.0	76.0					15																	81234667		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81234667G>A																												ENST00000394685.3:c.3688G>A	15.37:g.81234667G>A	ENSP00000378177:p.Ala1230Thr					RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A1230T|KIAA1199_ENST00000356249.5_Missense_Mutation_p.A1230T	p.A1230T			Q8WUJ3	K1199_HUMAN			27	4107	+			1230					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.3688G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390528	0.62066	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.68765	-0.35;-0.35;-0.35	5.61	4.68	0.58851	.	0.127387	0.50627	D	0.000110	T	0.67571	0.2907	M	0.69823	2.125	0.42084	D	0.991266	D	0.57257	0.979	B	0.42995	0.404	T	0.72646	-0.4230	10	0.49607	T	0.09	-9.688	15.756	0.78025	0.0:0.0:0.8623:0.1377	.	1230	Q8WUJ3	K1199_HUMAN	T	1230	ENSP00000220244:A1230T;ENSP00000378177:A1230T;ENSP00000348583:A1230T	ENSP00000220244:A1230T	A	+	1	0	KIAA1199	79021722	1.000000	0.71417	0.012000	0.15200	0.119000	0.20118	4.505000	0.60421	1.334000	0.45468	0.591000	0.81541	GCT		0.483	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			30	49	0	0	0	1	0	30	49				
IK	3550	broad.mit.edu	37	5	140041219	140041219	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140041219G>A	ENST00000417647.2	+	17	1567	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	476					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAGGGGCCCTTAGGCC	0.498																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(1426-1428)ggG>ggA		IK cytokine, down-regulator of HLA II							47.0	45.0	46.0					5																	140041219		1886	4111	5997	SO:0001819	synonymous_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140041219G>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1428G>A	5.37:g.140041219G>A							p.G476G	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1567	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	476					Q6IPD8	Silent	SNP	ENST00000417647.2	37	c.1428G>A	CCDS47280.1																																																																																				0.498	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		3	7	0	0	0	1	0	3	7				
PPP2R5D	5528	broad.mit.edu	37	6	42975803	42975803	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975803G>T	ENST00000485511.1	+	7	1036	c.857G>T	c.(856-858)aGg>aTg	p.R286M	PPP2R5D_ENST00000461010.1_Splice_Site_p.R180M|PPP2R5D_ENST00000394110.3_Splice_Site_p.R254M|PPP2R5D_ENST00000472118.1_Splice_Site_p.R278M	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	286					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCTTCTACAGGTGAGGCCAG	0.557																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.e7+1		protein phosphatase 2, regulatory subunit B', delta							95.0	96.0	96.0					6																	42975803		2203	4300	6503	SO:0001630	splice_region_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975803G>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.857+1G>T	6.37:g.42975803G>T						PPP2R5D_ENST00000394110.3_Splice_Site_p.R254_splice|PPP2R5D_ENST00000472118.1_Splice_Site_p.R278_splice|PPP2R5D_ENST00000461010.1_Splice_Site_p.R180_splice	p.R286_splice	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	1036	+			286					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Splice_Site	SNP	ENST00000485511.1	37	c.857_splice	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006905|5.006905	0.93287|0.93287	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000470467|ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	.|T;T;T;T	.|0.52295	.|0.7;0.67;0.69;0.71	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Armadillo-type fold (1);	.|0.042855	.|0.85682	.|D	.|0.000000	T|T	0.76586|0.76586	0.4008|0.4008	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.993;0.997;1.0;1.0	.|D;P;D;P	.|0.73708	.|0.937;0.738;0.981;0.852	D|D	0.83396|0.83396	0.0020|0.0020	5|10	.|0.87932	.|D	.|0	-34.0187|-34.0187	19.9197|19.9197	0.97082|0.97082	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|180;286;286;254	.|Q14738-3;F5GYS1;Q14738;Q14738-2	.|.;.;2A5D_HUMAN;.	H|M	205|286;254;278;286;180	.|ENSP00000417963:R286M;ENSP00000377669:R254M;ENSP00000420550:R278M;ENSP00000420674:R180M	.|ENSP00000377669:R254M	Q|R	+|+	3|2	2|0	PPP2R5D|PPP2R5D	43083781|43083781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.004000|8.004000	0.88535|0.88535	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.557	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245	Missense_Mutation	9	88	1	0	7.48243e-07	1	8.70085e-07	9	88				
UBE3C	9690	broad.mit.edu	37	7	156994433	156994433	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156994433C>A	ENST00000348165.5	+	11	1710	c.1350C>A	c.(1348-1350)gcC>gcA	p.A450A		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	450					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGTTTAGCCTTTAATGCCA	0.308																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1348-1350)gcC>gcA		ubiquitin protein ligase E3C							151.0	136.0	141.0					7																	156994433		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156994433C>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1350C>A	7.37:g.156994433C>A							p.A450A	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	11	1710	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	450					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.1350C>A	CCDS34789.1																																																																																				0.308	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		32	101	1	0	6.90743e-12	1	8.64953e-12	32	101				
C6orf1	221491	broad.mit.edu	37	6	34214829	34214829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34214829C>T	ENST00000476320.1	-	4	799	c.117G>A	c.(115-117)gaG>gaA	p.E39E	C6orf1_ENST00000468145.1_Silent_p.E39E|C6orf1_ENST00000413013.2_Silent_p.E19E|C6orf1_ENST00000335352.3_Silent_p.E19E|C6orf1_ENST00000394990.4_Silent_p.E39E|C6orf1_ENST00000481533.1_Silent_p.E39E	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	39						extracellular region (GO:0005576)				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		ACCTTGGGGTCTCCCATGTCA	0.612											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000476320.1																			0				endometrium(1)|prostate(1)	2						c.(115-117)gaG>gaA		chromosome 6 open reading frame 1							101.0	105.0	104.0					6																	34214829		2203	4300	6503	SO:0001819	synonymous_variant	221491					extracellular region		g.chr6:34214829C>T	AY062936	CCDS4790.1, CCDS75433.1	6p21.3	2011-12-12			ENSG00000186577	ENSG00000186577			1340	protein-coding gene	gene with protein product		611419				10036196	Standard	NM_178508		Approved	LBH, MGC57858	uc003ojh.3	Q86T20	OTTHUMG00000159754	ENST00000476320.1:c.117G>A	6.37:g.34214829C>T			OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	846	C6orf1_ENST00000481533.1_Silent_p.E39E|C6orf1_ENST00000394990.4_Silent_p.E39E|C6orf1_ENST00000413013.2_Silent_p.E19E|C6orf1_ENST00000468145.1_Silent_p.E39E|C6orf1_ENST00000335352.3_Silent_p.E19E	p.E39E	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)	4	799	-		Ovarian(999;0.0228)	39					A8K299	Silent	SNP	ENST00000476320.1	37	c.117G>A	CCDS4790.1																																																																																				0.612	C6orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357175.1	NM_178508		55	81	0	0	0	1	0	55	81				
TBCD	6904	broad.mit.edu	37	17	80885151	80885151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80885151G>A	ENST00000355528.4	+	29	2691	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	TBCD_ENST00000539345.2_Missense_Mutation_p.G854D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	854					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCGCTGCTGGGCTGCATGGAC	0.547																																						ENST00000355528.4																			0											c.(2560-2562)gGc>gAc		tubulin folding cofactor D							70.0	75.0	73.0					17																	80885151		2153	4253	6406	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80885151G>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2561G>A	17.37:g.80885151G>A	ENSP00000347719:p.Gly854Asp					TBCD_ENST00000539345.2_Missense_Mutation_p.G854D	p.G854D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		29	2691	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	854					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2561G>A	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	0.900	-0.722500	0.03182	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.66995	-0.24	4.04	-4.87	0.03123	Armadillo-like helical (1);Armadillo-type fold (1);	0.766363	0.12172	N	0.492898	T	0.34077	0.0885	N	0.04132	-0.27	0.24527	N	0.994135	B;B	0.10296	0.002;0.003	B;B	0.09377	0.001;0.004	T	0.26573	-1.0099	9	.	.	.	.	7.5479	0.27778	0.6077:0.1301:0.2622:0.0	.	854;854	Q9BTW9;Q9BTW9-4	TBCD_HUMAN;.	D	854;605	ENSP00000347719:G854D	.	G	+	2	0	TBCD	78478440	0.000000	0.05858	0.622000	0.29159	0.098000	0.18820	-1.941000	0.01542	-0.893000	0.03930	0.561000	0.74099	GGC		0.547	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		13	21	0	0	0	1	0	13	21				
GNA11	2767	broad.mit.edu	37	19	3115036	3115036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3115036G>A	ENST00000078429.4	+	4	813	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	191					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CGGCATCATCGAGTACCCTTT	0.662			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(571-573)Gag>Aag		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							114.0	108.0	110.0					19																	3115036		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3115036G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.571G>A	19.37:g.3115036G>A	ENSP00000078429:p.Glu191Lys						p.E191K	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	813	+		Hepatocellular(1079;0.137)	191					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.571G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	34	5.387373	0.95988	.	.	ENSG00000088256	ENST00000078429	D	0.91792	-2.91	3.92	3.92	0.45320	.	0.000000	0.64402	D	0.000002	D	0.97025	0.9028	H	0.95780	3.72	0.58432	D	0.999998	D	0.89917	1.0	D	0.72075	0.976	D	0.98239	1.0487	10	0.87932	D	0	.	14.5421	0.68002	0.0:0.0:1.0:0.0	.	191	P29992	GNA11_HUMAN	K	191	ENSP00000078429:E191K	ENSP00000078429:E191K	E	+	1	0	GNA11	3066036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	1.752000	0.51891	0.556000	0.70494	GAG		0.662	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		39	63	0	0	0	1	0	39	63				
UPP1	7378	broad.mit.edu	37	7	48139382	48139382	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48139382A>C	ENST00000331803.4	+	5	783	c.160A>C	c.(160-162)Aag>Cag	p.K54Q	UPP1_ENST00000482015.1_Intron|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.K54Q|UPP1_ENST00000341253.4_Missense_Mutation_p.K54Q			Q16831	UPP1_HUMAN	uridine phosphorylase 1	54					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	TGGAGATGTGAAGGTAAGAGG	0.403																																						ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(160-162)Aag>Cag		uridine phosphorylase 1							141.0	143.0	142.0					7																	48139382		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48139382A>C	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.160A>C	7.37:g.48139382A>C	ENSP00000330032:p.Lys54Gln					UPP1_ENST00000341253.4_Missense_Mutation_p.K54Q|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.K54Q|UPP1_ENST00000482015.1_Intron	p.K54Q			Q16831	UPP1_HUMAN			5	783	+			54					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.160A>C	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718802	0.89205	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.58	5.58	0.84498	.	0.046069	0.85682	D	0.000000	T	0.75788	0.3897	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.87578	0.998;0.863	T	0.82438	-0.0457	10	0.87932	D	0	-29.4739	14.921	0.70838	1.0:0.0:0.0:0.0	.	54;54	B4DND0;Q16831	.;UPP1_HUMAN	Q	54	ENSP00000405209:K54Q;ENSP00000330032:K54Q;ENSP00000342878:K54Q;ENSP00000378931:K54Q;ENSP00000390118:K54Q	ENSP00000330032:K54Q	K	+	1	0	UPP1	48105907	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.743000	0.91592	2.110000	0.64415	0.460000	0.39030	AAG		0.403	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		15	233	0	0	0	1	0	15	233				
PLA2G4E	123745	broad.mit.edu	37	15	42300022	42300022	+	Missense_Mutation	SNP	C	C	T	rs370475290		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42300022C>T	ENST00000399518.3	-	3	784	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A71T|CTD-2382E5.2_ENST00000552704.1_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	82	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTCTGAGAGGCGGTGGGCAGC	0.502																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(298-300)Gcc>Acc		phospholipase A2, group IVE		C	THR/ALA	0,3938		0,0,1969	45.0	49.0	48.0		298	4.8	0.3	15		48	1,8331		0,1,4165	no	missense	PLA2G4E	NM_001206670.1	58	0,1,6134	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	100/869	42300022	1,12269	1969	4166	6135	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42300022C>T		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.298G>A	15.37:g.42300022C>T	ENSP00000382434:p.Ala100Thr					CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A71T	p.A100T	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	3	784	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	82			C2.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.298G>A	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353647	0.82243	0.0	1.2E-4	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.39592	1.07;2.96	5.67	4.75	0.60458	.	0.000000	0.56097	U	0.000025	T	0.64427	0.2597	M	0.81497	2.545	0.38986	D	0.959057	D	0.89917	1.0	D	0.67900	0.954	T	0.71718	-0.4508	10	0.62326	D	0.03	-6.5131	13.827	0.63357	0.0:0.9254:0.0:0.0746	.	71	C9JK77	.	T	100;71	ENSP00000382434:A100T;ENSP00000413897:A71T	ENSP00000382434:A100T	A	-	1	0	PLA2G4E	40087314	0.969000	0.33509	0.346000	0.25655	0.937000	0.57800	2.280000	0.43443	1.406000	0.46857	0.655000	0.94253	GCC		0.502	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		4	7	0	0	0	1	0	4	7				
MACF1	23499	broad.mit.edu	37	1	39797948	39797948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39797948G>T	ENST00000372915.3	+	36	5790	c.5703G>T	c.(5701-5703)gaG>gaT	p.E1901D	MACF1_ENST00000567887.1_Missense_Mutation_p.E1933D|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.E1896D|MACF1_ENST00000289893.4_Missense_Mutation_p.E336D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1901					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCACAGAGATTTTGTCCT	0.408																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(5686-5688)gaG>gaT		microtubule-actin crosslinking factor 1							59.0	63.0	61.0					1																	39797948		2201	4295	6496	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797948G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5703G>T	1.37:g.39797948G>T	ENSP00000362006:p.Glu1901Asp					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E336D|MACF1_ENST00000567887.1_Missense_Mutation_p.E1933D|MACF1_ENST00000372915.3_Missense_Mutation_p.E1901D|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron	p.E1896D			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	6465	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1901					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.5688G>T		.	.	.	.	.	.	.	.	.	.	G	12.18	1.860934	0.32884	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71698	-0.59;-0.59	5.39	2.46	0.29980	.	0.300954	0.28544	N	0.014980	T	0.78880	0.4353	M	0.68317	2.08	0.80722	D	1	D	0.63046	0.992	D	0.72338	0.977	T	0.75855	-0.3170	10	0.41790	T	0.15	.	9.0029	0.36092	0.2882:0.0:0.7118:0.0	.	1901	Q9UPN3	MACF1_HUMAN	D	1901;336	ENSP00000362006:E1901D;ENSP00000289893:E336D	ENSP00000289893:E336D	E	+	3	2	MACF1	39570535	0.947000	0.32204	0.998000	0.56505	0.978000	0.69477	0.741000	0.26202	0.659000	0.30945	0.555000	0.69702	GAG		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	77	1	0	8.12818e-05	1	8.99451e-05	6	77				
USP2	9099	broad.mit.edu	37	11	119229791	119229791	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119229791T>C	ENST00000260187.2	-	6	1409	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	USP2_ENST00000525735.1_Missense_Mutation_p.E163G|USP2_ENST00000455332.2_Missense_Mutation_p.E129G	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	372	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCGGTTCACCTCGTTATGGAG	0.493																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(1114-1116)gAg>gGg		ubiquitin specific peptidase 2							104.0	92.0	96.0					11																	119229791		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119229791T>C	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1115A>G	11.37:g.119229791T>C	ENSP00000260187:p.Glu372Gly					USP2_ENST00000455332.2_Missense_Mutation_p.E129G|USP2_ENST00000525735.1_Missense_Mutation_p.E163G	p.E372G	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	6	1409	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	372					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.1115A>G	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.464714	0.84425	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.33865	1.39;1.39;1.39	5.92	3.61	0.41365	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.204938	0.49305	N	0.000149	T	0.57388	0.2050	M	0.81179	2.53	0.58432	D	0.99999	D;D;P	0.76494	0.995;0.999;0.703	D;D;B	0.69307	0.944;0.963;0.328	T	0.58418	-0.7640	10	0.87932	D	0	-7.8301	9.3486	0.38124	0.0:0.1462:0.0:0.8538	.	129;372;163	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	G	129;372;119;163	ENSP00000407842:E129G;ENSP00000260187:E372G;ENSP00000436952:E163G	ENSP00000260187:E372G	E	-	2	0	USP2	118735001	1.000000	0.71417	0.970000	0.41538	0.882000	0.50991	6.183000	0.72002	0.494000	0.27859	0.533000	0.62120	GAG		0.493	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		10	67	0	0	0	1	0	10	67				
GRIA2	2891	broad.mit.edu	37	4	158257783	158257783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257783G>T	ENST00000264426.9	+	11	2007	c.1728G>T	c.(1726-1728)gaG>gaT	p.E576D	GRIA2_ENST00000449365.1_Missense_Mutation_p.E529D|GRIA2_ENST00000393815.2_Missense_Mutation_p.E529D|GRIA2_ENST00000296526.7_Missense_Mutation_p.E576D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E529D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	576					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACACTGAGGAGTTTGAAGATG	0.418																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1726-1728)gaG>gaT		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						153.0	148.0	150.0					4																	158257783		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257783G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1728G>T	4.37:g.158257783G>T	ENSP00000264426:p.Glu576Asp					GRIA2_ENST00000393815.2_Missense_Mutation_p.E529D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E529D|GRIA2_ENST00000264426.9_Missense_Mutation_p.E576D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E529D	p.E576D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	2053	+	all_hematologic(180;0.24)	Renal(120;0.0458)	576					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1728G>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748656	0.30955	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.66	-0.215	0.13157	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.20780	0.0500	N	0.08118	0	0.53005	D	0.999967	D;B;D	0.63046	0.981;0.006;0.992	P;B;D	0.76071	0.893;0.009;0.987	T	0.01294	-1.1393	10	0.25106	T	0.35	.	11.6622	0.51354	0.5555:0.0:0.4445:0.0	.	576;576;529	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	D	529;529;576;576;529	ENSP00000426845:E529D;ENSP00000377403:E529D;ENSP00000296526:E576D;ENSP00000264426:E576D;ENSP00000389837:E529D	ENSP00000264426:E576D	E	+	3	2	GRIA2	158477233	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	0.640000	0.24705	-0.309000	0.08779	0.655000	0.94253	GAG		0.418	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			11	102	1	0	0.00010058	1	0.000111121	11	102				
GLB1L3	112937	broad.mit.edu	37	11	134179596	134179596	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134179596C>T	ENST00000431683.2	+	11	1038	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	346					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAACCAACTTTGGTTTCA	0.478																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1036-1038)aaC>aaT		galactosidase, beta 1-like 3							86.0	83.0	84.0					11																	134179596		1918	4109	6027	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134179596C>T		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1038C>T	11.37:g.134179596C>T							p.N346N	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	11	1038	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	346					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1038C>T	CCDS44780.1																																																																																				0.478	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		5	10	0	0	0	1	0	5	10				
BSDC1	55108	broad.mit.edu	37	1	32841937	32841937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32841937G>A	ENST00000455895.2	-	9	1115	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000419121.2_Missense_Mutation_p.A305V|BSDC1_ENST00000449308.1_Missense_Mutation_p.A361V|BSDC1_ENST00000413080.1_Missense_Mutation_p.A300V|BSDC1_ENST00000446293.2_Missense_Mutation_p.A378V|BSDC1_ENST00000526031.1_Missense_Mutation_p.A266V|BSDC1_ENST00000341071.7_Missense_Mutation_p.A378V	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	361										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGTGGGCGCCTCCTCCCT	0.602																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1132-1134)gCg>gTg		BSD domain containing 1							80.0	87.0	84.0					1																	32841937		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32841937G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1082C>T	1.37:g.32841937G>A	ENSP00000412173:p.Ala361Val					BSDC1_ENST00000419121.2_Missense_Mutation_p.A305V|BSDC1_ENST00000449308.1_Missense_Mutation_p.A361V|BSDC1_ENST00000446293.2_Missense_Mutation_p.A378V|BSDC1_ENST00000526031.1_Missense_Mutation_p.A266V|BSDC1_ENST00000413080.1_Missense_Mutation_p.A300V|BSDC1_ENST00000455895.2_Missense_Mutation_p.A361V	p.A378V			Q9NW68	BSDC1_HUMAN			9	1144	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	361					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.1133C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377157	0.24944	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.6	-3.76	0.04359	.	0.840357	0.11165	N	0.592658	T	0.13543	0.0328	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.12013	0.001;0.0;0.001;0.005;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.002;0.003;0.0	T	0.29822	-0.9999	9	0.21014	T	0.42	-0.0349	8.121	0.30971	0.1762:0.4085:0.4154:0.0	.	266;305;378;378;361	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	V	361;300;378;266;305;378;361	.	ENSP00000344816:A378V	A	-	2	0	BSDC1	32614524	0.000000	0.05858	0.042000	0.18584	0.907000	0.53573	0.139000	0.16036	-0.482000	0.06782	0.462000	0.41574	GCG		0.602	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		68	99	0	0	0	1	0	68	99				
RSAD2	91543	broad.mit.edu	37	2	7018121	7018121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7018121G>T	ENST00000382040.3	+	1	326	c.190G>T	c.(190-192)Gag>Tag	p.E64*	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAGGAGGAAGAGGACCCTCC	0.557																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(190-192)Gag>Tag		radical S-adenosyl methionine domain containing 2							145.0	121.0	129.0					2																	7018121		2203	4300	6503	SO:0001587	stop_gained	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7018121G>T	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.190G>T	2.37:g.7018121G>T	ENSP00000371471:p.Glu64*						p.E64*	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	1	326	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		64						Nonsense_Mutation	SNP	ENST00000382040.3	37	c.190G>T	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800702	0.90538	.	.	ENSG00000134321	ENST00000382040	.	.	.	5.51	1.31	0.21738	.	1.513240	0.03550	N	0.225281	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-4.717	3.7879	0.08707	0.1448:0.349:0.3872:0.119	.	.	.	.	X	64	.	ENSP00000371471:E64X	E	+	1	0	RSAD2	6935572	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.096000	0.15147	0.341000	0.23771	0.557000	0.71058	GAG		0.557	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		13	34	1	0	2.61681e-11	1	3.25769e-11	13	34				
CTPS2	56474	broad.mit.edu	37	X	16688716	16688716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16688716C>A	ENST00000443824.1	-	11	1919	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	CTPS2_ENST00000380241.3_Missense_Mutation_p.K392N|CTPS2_ENST00000359276.4_Missense_Mutation_p.K392N	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	392	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GAAAAGGAATCTTCTTTGTCC	0.388																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1174-1176)aaG>aaT		CTP synthase 2							148.0	141.0	144.0					X																	16688716		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16688716C>A	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1176G>T	X.37:g.16688716C>A	ENSP00000401264:p.Lys392Asn					CTPS2_ENST00000380241.3_Missense_Mutation_p.K392N|CTPS2_ENST00000359276.4_Missense_Mutation_p.K392N	p.K392N	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			11	1919	-	Hepatocellular(33;0.0997)		392			Glutamine amidotransferase type-1.		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.1176G>T	CCDS14175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.254|6.254	0.415067|0.415067	0.11870|0.11870	.|.	.|.	ENSG00000047230|ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207|ENST00000455276	D;D;D|.	0.90004|.	-2.6;-2.6;-2.6|.	5.26|5.26	4.2|4.2	0.49525|0.49525	Glutamine amidotransferase type 1 (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.40815|0.40815	0.1132|0.1132	N|N	0.25031|0.25031	0.7|0.7	0.46725|0.46725	D|D	0.999173|0.999173	B|.	0.23185|.	0.081|.	B|.	0.21360|.	0.034|.	T|T	0.18745|0.18745	-1.0327|-1.0327	10|5	0.20046|.	T|.	0.44|.	-22.59|-22.59	7.2378|7.2378	0.26079|0.26079	0.0:0.7997:0.0:0.2003|0.0:0.7997:0.0:0.2003	.|.	392|.	Q9NRF8|.	PYRG2_HUMAN|.	N|I	392;392;392;58|14	ENSP00000401264:K392N;ENSP00000369590:K392N;ENSP00000352222:K392N|.	ENSP00000352222:K392N|.	K|R	-|-	3|2	2|0	CTPS2|CTPS2	16598637|16598637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.242000|1.242000	0.32755|0.32755	2.200000|2.200000	0.70718|0.70718	0.600000|0.600000	0.82982|0.82982	AAG|AGA		0.388	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		10	218	1	0	0.000978159	1	0.00105116	10	218				
EMR4P	326342	broad.mit.edu	37	19	6988822	6988822	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6988822C>A	ENST00000600751.1	-	0	108					NR_024075.1		Q86SQ3	EMR4_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)										GCTTCTGATCCTGGCAGAGCC	0.532																																						ENST00000600751.1																			0																				105.0	103.0	103.0					19																	6988822		1878	4116	5994			0							g.chr19:6988822C>A	AY181245		19p13.2	2014-08-08	2008-06-06	2008-06-06	ENSG00000268758	ENSG00000268758		"""-"", ""GPCR / Class B : Orphans"""	19240	pseudogene	pseudogene		612305	"""G protein-coupled receptor 127"", ""egf-like module containing, mucin-like, hormone receptor-like 4"""	GPR127, EMR4		12565841	Standard	NR_024075		Approved	PGR16	uc010xjk.2	Q86SQ3	OTTHUMG00000177251		19.37:g.6988822C>A								NR_024075.1						0	108	-								Q86SP1	RNA	SNP	ENST00000600751.1	37																																																																																						0.532	EMR4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436007.1	NR_024075		33	43	1	0	2.40579e-17	1	3.11917e-17	33	43				
UAP1	6675	broad.mit.edu	37	1	162567644	162567644	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162567644G>T	ENST00000367925.1	+	9	1504	c.1472G>T	c.(1471-1473)gGa>gTa	p.G491V	UAP1_ENST00000271469.3_Missense_Mutation_p.G491V|UAP1_ENST00000367926.4_Missense_Mutation_p.G474V|UAP1_ENST00000367924.1_Missense_Mutation_p.G490V			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	491					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCTATGCTGGAGAAGTAAGT	0.313																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1471-1473)gGa>gTa		UDP-N-acteylglucosamine pyrophosphorylase 1							200.0	191.0	194.0					1																	162567644		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162567644G>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1472G>T	1.37:g.162567644G>T	ENSP00000356902:p.Gly491Val					UAP1_ENST00000367926.4_Missense_Mutation_p.G474V|UAP1_ENST00000367924.1_Missense_Mutation_p.G490V|UAP1_ENST00000486089.1_3'UTR|UAP1_ENST00000367925.1_Missense_Mutation_p.G491V	p.G491V			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		10	1774	+	all_hematologic(112;0.115)		491					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.1472G>T		.	.	.	.	.	.	.	.	.	.	G	24.0	4.481675	0.84747	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	M	0.91510	3.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.62431	-0.6856	9	0.87932	D	0	-22.8823	17.6761	0.88232	0.0:0.0:1.0:0.0	.	474	Q16222-2	.	V	474;491;491;490	ENSP00000356903:G474V;ENSP00000271469:G491V;ENSP00000356902:G491V;ENSP00000356901:G490V	ENSP00000271469:G491V	G	+	2	0	UAP1	160834268	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.824000	0.92023	2.516000	0.84829	0.655000	0.94253	GGA		0.313	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		7	159	1	0	5.18039e-06	1	5.91835e-06	7	159				
DUOX1	53905	broad.mit.edu	37	15	45434273	45434273	+	Silent	SNP	C	C	T	rs528805701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45434273C>T	ENST00000321429.4	+	16	2192	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	DUOX1_ENST00000389037.3_Silent_p.F595F|DUOX1_ENST00000561166.1_Silent_p.F241F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	595					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GATTTGGCTTCGGGGTCACCA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.001					ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1783-1785)ttC>ttT		dual oxidase 1							143.0	130.0	134.0					15																	45434273		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45434273C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1785C>T	15.37:g.45434273C>T						DUOX1_ENST00000389037.3_Silent_p.F595F|DUOX1_ENST00000561166.1_Silent_p.F241F	p.F595F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	16	2192	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	595					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.1785C>T	CCDS32221.1																																																																																				0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		38	42	0	0	0	1	0	38	42				
BUD31	8896	broad.mit.edu	37	7	99013877	99013877	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99013877A>T	ENST00000403633.2	+	4	740	c.211A>T	c.(211-213)Agc>Tgc	p.S71C	BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Missense_Mutation_p.S42C|snoU13_ENST00000458831.1_RNA|BUD31_ENST00000222969.5_Missense_Mutation_p.S71C			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	71					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAGCCATCAGCAGAGGTAA	0.473																																						ENST00000403633.2																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4						c.(211-213)Agc>Tgc		BUD31 homolog (S. cerevisiae)							123.0	114.0	117.0					7																	99013877		2203	4300	6503	SO:0001583	missense	8896				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:99013877A>T	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"""G10 maternal transcript homolog (Xenopus laevis)"", ""functional spliceosome-associated protein 17"""	603477	"""BUD31 homolog (yeast)"""			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.211A>T	7.37:g.99013877A>T	ENSP00000386023:p.Ser71Cys					BUD31_ENST00000431419.1_Missense_Mutation_p.S42C|BUD31_ENST00000222969.5_Missense_Mutation_p.S71C|BUD31_ENST00000456893.1_Intron	p.S71C			P41223	BUD31_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	740	+	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		71					A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Missense_Mutation	SNP	ENST00000403633.2	37	c.211A>T	CCDS5663.1	.	.	.	.	.	.	.	.	.	.	A	31	5.081394	0.94050	.	.	ENSG00000106245	ENST00000403633;ENST00000222969;ENST00000431419	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.89949	0.4078	9	0.87932	D	0	-36.1288	16.1141	0.81289	1.0:0.0:0.0:0.0	.	71;71	B7Z4S9;P41223	.;BUD31_HUMAN	C	71;71;42	.	ENSP00000222969:S71C	S	+	1	0	BUD31	98851813	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.858000	0.92256	2.214000	0.71695	0.528000	0.53228	AGC		0.473	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		5	121	0	0	0	1	0	5	121				
KIAA1468	57614	broad.mit.edu	37	18	59947632	59947632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59947632C>T	ENST00000398130.2	+	23	3239	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1003										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGTTGACAAGCGGGTTGCTCC	0.438																																						ENST00000398130.2																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(3007-3009)Cgg>Tgg		KIAA1468							125.0	114.0	118.0					18																	59947632		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59947632C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3007C>T	18.37:g.59947632C>T	ENSP00000381198:p.Arg1003Trp					KIAA1468_ENST00000256858.6_Intron	p.R1003W	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN			23	3239	+		Colorectal(73;0.186)	1003						Missense_Mutation	SNP	ENST00000398130.2	37	c.3007C>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581447	0.86748	.	.	ENSG00000134444	ENST00000398130	T	0.04194	3.68	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00036	-1.2254	9	.	.	.	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	1003	Q9P260	K1468_HUMAN	W	1003	ENSP00000381198:R1003W	.	R	+	1	2	KIAA1468	58098612	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.835000	0.97688	0.591000	0.81541	CGG		0.438	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		24	62	0	0	0	1	0	24	62				
NOX1	27035	broad.mit.edu	37	X	100105197	100105197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100105197C>T	ENST00000372966.3	-	9	1281	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G322E|NOX1_ENST00000217885.5_Missense_Mutation_p.G359E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	359	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGTCCAGTCCCCTGCTGCTCG	0.473																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1075-1077)gGg>gAg		NADPH oxidase 1							77.0	76.0	77.0					X																	100105197		2203	4300	6503	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100105197C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1076G>A	X.37:g.100105197C>T	ENSP00000362057:p.Gly359Glu					NOX1_ENST00000217885.5_Missense_Mutation_p.G359E|NOX1_ENST00000372960.4_Missense_Mutation_p.G322E|NOX1_ENST00000372964.1_Intron	p.G359E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			9	1281	-			359			FAD-binding FR-type.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1076G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938697	0.73557	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	T;T;T	0.25085	1.82;1.82;1.82	3.87	3.87	0.44632	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.064015	0.64402	N	0.000009	T	0.65913	0.2737	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80308	-0.1437	10	0.87932	D	0	-11.0628	14.1697	0.65500	0.0:1.0:0.0:0.0	.	322;359;359	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	E	359;359;322;48	ENSP00000362057:G359E;ENSP00000217885:G359E;ENSP00000362051:G322E	ENSP00000217885:G359E	G	-	2	0	NOX1	99991853	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	6.769000	0.74985	1.767000	0.52121	0.422000	0.28245	GGG		0.473	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		5	49	0	0	0	1	0	5	49				
PCNXL3	399909	broad.mit.edu	37	11	65403922	65403922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65403922G>A	ENST00000355703.3	+	34	6193	c.5654G>A	c.(5653-5655)gGc>gAc	p.G1885D	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1885	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCCTGAGTGGCTCTGGTGAT	0.692																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5653-5655)gGc>gAc		pecanex-like 3 (Drosophila)							27.0	32.0	30.0					11																	65403922		1934	4113	6047	SO:0001583	missense	399909					integral to membrane		g.chr11:65403922G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5654G>A	11.37:g.65403922G>A	ENSP00000347931:p.Gly1885Asp						p.G1885D	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			34	6193	+			1885			Gly-rich.		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5654G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259782	0.59321	.	.	ENSG00000197136	ENST00000355703	T	0.07908	3.15	4.49	3.57	0.40892	.	0.718644	0.11475	U	0.560278	T	0.06188	0.0160	N	0.24115	0.695	0.24058	N	0.996021	B;B	0.25609	0.13;0.005	B;B	0.21360	0.034;0.007	T	0.39683	-0.9602	10	0.20519	T	0.43	.	10.3571	0.43972	0.0:0.1992:0.8007:0.0	.	772;1885	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	D	1885	ENSP00000347931:G1885D	ENSP00000347931:G1885D	G	+	2	0	PCNXL3	65160498	0.641000	0.27251	0.958000	0.39756	0.817000	0.46193	1.339000	0.33885	1.108000	0.41662	0.462000	0.41574	GGC		0.692	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		19	22	0	0	0	1	0	19	22				
KRT84	3890	broad.mit.edu	37	12	52779070	52779070	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779070G>A	ENST00000257951.3	-	1	366	c.300C>T	c.(298-300)gaC>gaT	p.D100D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	100	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACACAGCTGTCAGCCCTAG	0.597																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(298-300)gaC>gaT		keratin 84							175.0	163.0	167.0					12																	52779070		2203	4300	6503	SO:0001819	synonymous_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52779070G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.300C>T	12.37:g.52779070G>A						RP3-416H24.4_ENST00000547174.1_RNA	p.D100D	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	366	-	all_hematologic(5;0.12)		100			Head.		B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	c.300C>T	CCDS8825.1																																																																																				0.597	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		10	93	0	0	0	1	0	10	93				
LTA4H	4048	broad.mit.edu	37	12	96394849	96394849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96394849G>A	ENST00000228740.2	-	19	1895	c.1754C>T	c.(1753-1755)gCt>gTt	p.A585V	LTA4H_ENST00000552789.1_Missense_Mutation_p.A561V|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_3'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	585					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GGTTCGGACAGCTTGATCATG	0.453																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(1753-1755)gCt>gTt		leukotriene A4 hydrolase							135.0	124.0	128.0					12																	96394849		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96394849G>A	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1754C>T	12.37:g.96394849G>A	ENSP00000228740:p.Ala585Val					LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.A561V|RP11-256L6.3_ENST00000551849.1_RNA	p.A585V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			19	1895	-			585					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.1754C>T	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119122	0.77323	.	.	ENSG00000111144	ENST00000228740;ENST00000552789	T;T	0.73152	-0.72;-0.72	5.83	4.01	0.46588	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.048953	0.85682	D	0.000000	D	0.83968	0.5369	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.71184	0.906;0.972	D	0.85598	0.1250	10	0.87932	D	0	-12.7109	12.4233	0.55532	0.1359:0.0:0.8641:0.0	.	561;585	F8VV40;P09960	.;LKHA4_HUMAN	V	585;561	ENSP00000228740:A585V;ENSP00000449958:A561V	ENSP00000228740:A585V	A	-	2	0	LTA4H	94918980	1.000000	0.71417	0.137000	0.22149	0.756000	0.42949	6.066000	0.71185	0.812000	0.34326	0.491000	0.48974	GCT		0.453	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		26	70	0	0	0	1	0	26	70				
IPO7	10527	broad.mit.edu	37	11	9435937	9435937	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9435937G>T	ENST00000379719.3	+	5	757	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	205					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGATATTCAAGATCTTCTATG	0.363																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(613-615)aaG>aaT		importin 7							121.0	113.0	116.0					11																	9435937		2201	4296	6497	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9435937G>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.615G>T	11.37:g.9435937G>T	ENSP00000369042:p.Lys205Asn						p.K205N	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	5	757	+			205					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.615G>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995743	0.74703	.	.	ENSG00000205339	ENST00000379719	T	0.70045	-0.45	5.5	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85501	0.1191	10	0.87932	D	0	.	8.4176	0.32681	0.1752:0.0:0.8248:0.0	.	205	O95373	IPO7_HUMAN	N	205	ENSP00000369042:K205N	ENSP00000369042:K205N	K	+	3	2	IPO7	9392513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.098000	0.50259	2.576000	0.86940	0.650000	0.86243	AAG		0.363	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		5	147	1	0	2.0095e-06	1	2.31757e-06	5	147				
EXOC8	149371	broad.mit.edu	37	1	231472501	231472501	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472501C>A	ENST00000360394.2	-	1	1077	c.991G>T	c.(991-993)Gac>Tac	p.D331Y	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.D327Y|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	331					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ATGGAGAGGTCCACCTTCTCT	0.522																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(979-981)Gac>Tac		exocyst complex component 8							140.0	125.0	130.0					1																	231472501		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472501C>A	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.991G>T	1.37:g.231472501C>A	ENSP00000353564:p.Asp331Tyr					EXOC8_ENST00000360394.2_Missense_Mutation_p.D331Y	p.D327Y			Q8IYI6	EXOC8_HUMAN			1	1097	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	331					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.979G>T	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190385	0.58017	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.79141	-1.24;-1.24	5.55	5.55	0.83447	Cullin repeat-like-containing domain (1);	0.052424	0.64402	D	0.000001	T	0.81969	0.4935	L	0.51422	1.61	0.80722	D	1	D	0.55385	0.971	P	0.52710	0.707	T	0.82436	-0.0458	10	0.52906	T	0.07	-30.7846	19.4958	0.95072	0.0:1.0:0.0:0.0	.	331	Q8IYI6	EXOC8_HUMAN	Y	331;327	ENSP00000353564:D331Y;ENSP00000355605:D327Y	ENSP00000353564:D331Y	D	-	1	0	EXOC8	229539124	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.899000	0.63245	2.590000	0.87494	0.561000	0.74099	GAC		0.522	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		36	73	1	0	8.16904e-11	1	1.01094e-10	36	73				
IGKV6D-21	28870	broad.mit.edu	37	2	90060890	90060890	+	RNA	SNP	G	G	T	rs372857762		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:90060890G>T	ENST00000436451.2	+	0	304									immunoglobulin kappa variable 6D-21 (non-functional)																		GGGTCCCCTCGAGGTTCAGTG	0.498																																						ENST00000436451.2																			0																				81.0	80.0	80.0					2																	90060890		1873	4101	5974			0							g.chr2:90060890G>T	X12683		2p11.2	2012-02-10	2008-09-10		ENSG00000225523	ENSG00000225523		"""Immunoglobulins / IGK locus"""	5837	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-21"""				Standard	NG_000833		Approved	IGKV6D21, A10			OTTHUMG00000151608		2.37:g.90060890G>T														0	304	+									RNA	SNP	ENST00000436451.2	37																																																																																						0.498	IGKV6D-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323280.1	NG_000833		38	52	1	0	2.26627e-22	1	2.99131e-22	38	52				
PKN1	5585	broad.mit.edu	37	19	14581099	14581099	+	Silent	SNP	C	C	T	rs199860907		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14581099C>T	ENST00000242783.6	+	19	2583	c.2418C>T	c.(2416-2418)taC>taT	p.Y806Y	PKN1_ENST00000342216.4_Silent_p.Y812Y	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGCTCTACGAGATGCTGG	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18438	0.0		0.0	False		,,,				2504	0.0				NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2416-2418)taC>taT		protein kinase N1							115.0	128.0	123.0					19																	14581099		2203	4300	6503	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581099C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2418C>T	19.37:g.14581099C>T						PKN1_ENST00000342216.4_Silent_p.Y812Y	p.Y806Y	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			19	2583	+			806			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.2418C>T	CCDS42513.1																																																																																				0.637	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		4	24	0	0	0	1	0	4	24				
POLI	11201	broad.mit.edu	37	18	51820658	51820658	+	Missense_Mutation	SNP	G	G	A	rs563332094	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51820658G>A	ENST00000579534.1	+	10	2187	c.2044G>A	c.(2044-2046)Gca>Aca	p.A682T	POLI_ENST00000217800.5_Missense_Mutation_p.A556T|POLI_ENST00000406285.3_Missense_Mutation_p.A603T|POLI_ENST00000579434.1_Missense_Mutation_p.A579T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	682					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCAAACAGTAGCAACAGACTC	0.393								DNA polymerases (catalytic subunits)					G|||	2	0.000399361	0.0015	0.0	5008	,	,		18174	0.0		0.0	False		,,,				2504	0.0					ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(2044-2046)Gca>Aca	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							80.0	79.0	80.0					18																	51820658		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51820658G>A		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.2044G>A	18.37:g.51820658G>A	ENSP00000462664:p.Ala682Thr					POLI_ENST00000217800.5_Missense_Mutation_p.A556T|POLI_ENST00000406285.3_Missense_Mutation_p.A603T|POLI_ENST00000579434.1_Missense_Mutation_p.A579T	p.A682T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	10	2187	+			682					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.2044G>A	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	4.984	0.182710	0.09495	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.49720	0.77	4.81	2.91	0.33838	.	0.537430	0.19648	N	0.109290	T	0.26810	0.0656	N	0.17674	0.51	0.09310	N	1	P;P	0.39665	0.682;0.682	B;B	0.30401	0.115;0.115	T	0.05750	-1.0866	10	0.25751	T	0.34	-2.1343	11.3991	0.49860	0.0:0.3521:0.6479:0.0	.	602;682	B7Z780;Q9UNA4	.;POLI_HUMAN	T	603;682	ENSP00000385196:A603T	ENSP00000217800:A682T	A	+	1	0	POLI	50074656	0.006000	0.16342	0.091000	0.20842	0.382000	0.30200	1.303000	0.33470	0.481000	0.27557	0.585000	0.79938	GCA		0.393	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		4	48	0	0	0	1	0	4	48				
TMEM225	338661	broad.mit.edu	37	11	123754810	123754810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123754810G>T	ENST00000375026.2	-	3	651	c.435C>A	c.(433-435)taC>taA	p.Y145*		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	145					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAACATTTAAGTAAGCAGTAT	0.443																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(433-435)taC>taA		transmembrane protein 225							121.0	113.0	116.0					11																	123754810		2202	4299	6501	SO:0001587	stop_gained	338661					integral to membrane		g.chr11:123754810G>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.435C>A	11.37:g.123754810G>T	ENSP00000364166:p.Tyr145*						p.Y145*	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			3	651	-			145						Nonsense_Mutation	SNP	ENST00000375026.2	37	c.435C>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676970	0.68042	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	.	.	.	4.74	1.37	0.22104	.	0.000000	0.39985	N	0.001204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6264	5.4678	0.16652	0.4215:0.0:0.5785:0.0	.	.	.	.	X	145;95	.	ENSP00000364166:Y145X	Y	-	3	2	TMEM225	123260020	0.384000	0.25164	0.014000	0.15608	0.008000	0.06430	0.460000	0.21924	0.485000	0.27652	0.650000	0.86243	TAC		0.443	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		4	79	1	0	0.00909568	1	0.00947522	4	79				
IFNW1	3467	broad.mit.edu	37	9	21141206	21141206	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21141206A>T	ENST00000380229.2	-	1	938	c.364T>A	c.(364-366)Tgc>Agc	p.C122S		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	122					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCAGCAAGCAGGTCTCCAGG	0.557																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(364-366)Tgc>Agc		interferon, omega 1							77.0	72.0	74.0					9																	21141206		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141206A>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.364T>A	9.37:g.21141206A>T	ENSP00000369578:p.Cys122Ser						p.C122S	NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	938	-			122					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.364T>A	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981522	0.74474	.	.	ENSG00000177047	ENST00000380229	T	0.22539	1.95	4.53	4.53	0.55603	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.134805	0.56097	D	0.000039	T	0.43389	0.1245	M	0.90309	3.105	0.20196	N	0.999924	D	0.54207	0.965	P	0.53006	0.715	T	0.49303	-0.8954	10	0.87932	D	0	.	11.4673	0.50246	1.0:0.0:0.0:0.0	.	122	P05000	IFNW1_HUMAN	S	122	ENSP00000369578:C122S	ENSP00000369578:C122S	C	-	1	0	IFNW1	21131206	0.646000	0.27295	0.105000	0.21289	0.383000	0.30230	2.536000	0.45693	1.890000	0.54733	0.377000	0.23210	TGC		0.557	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		20	32	0	0	0	1	0	20	32				
PROM2	150696	broad.mit.edu	37	2	95941712	95941712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95941712C>A	ENST00000317620.9	+	3	462	c.329C>A	c.(328-330)gCt>gAt	p.A110D	PROM2_ENST00000403131.2_Missense_Mutation_p.A110D|PROM2_ENST00000542147.1_Missense_Mutation_p.A110D|PROM2_ENST00000317668.4_Missense_Mutation_p.A110D|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTGGTATGCGCTGTGATCGCG	0.692																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(328-330)gCt>gAt		prominin 2							23.0	34.0	30.0					2																	95941712		2202	4298	6500	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95941712C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.329C>A	2.37:g.95941712C>A	ENSP00000318270:p.Ala110Asp					PROM2_ENST00000317668.4_Missense_Mutation_p.A110D|PROM2_ENST00000403131.2_Missense_Mutation_p.A110D|PROM2_ENST00000542147.1_Missense_Mutation_p.A110D|PROM2_ENST00000463580.1_Intron	p.A110D	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			3	462	+			110					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.329C>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299090	0.40694	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.77	3.88	0.44766	.	0.000000	0.64402	D	0.000013	T	0.64103	0.2568	M	0.77616	2.38	0.19300	N	0.99998	D	0.89917	1.0	D	0.97110	1.0	T	0.53781	-0.8390	10	0.44086	T	0.13	-9.3479	7.9428	0.29969	0.0:0.8887:0.0:0.1113	.	110	Q8N271	PROM2_HUMAN	D	110	ENSP00000385716:A110D;ENSP00000318520:A110D;ENSP00000318270:A110D;ENSP00000442542:A110D	ENSP00000318270:A110D	A	+	2	0	PROM2	95305439	0.134000	0.22483	0.442000	0.26870	0.006000	0.05464	1.455000	0.35190	2.176000	0.68965	0.462000	0.41574	GCT		0.692	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	9	1	0	0.0293803	1	0.0301098	3	9				
MAPK12	6300	broad.mit.edu	37	22	50694529	50694529	+	Missense_Mutation	SNP	G	G	A	rs2230823	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50694529G>A	ENST00000215659.8	-	7	919	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	MAPK12_ENST00000395780.1_Missense_Mutation_p.R112C|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			MR -> IA (in Ref. 1; CAA55984). {ECO:0000305}.	cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGTGTAGCGCATCCAATTC	0.612													G|||	13	0.00259585	0.0098	0.0	5008	,	,		17445	0.0		0.0	False		,,,				2504	0.0					ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(604-606)Cgc>Tgc		mitogen-activated protein kinase 12		G	CYS/ARG	13,4391	19.1+/-41.9	0,13,2189	54.0	54.0	54.0		604	4.4	1.0	22	dbSNP_98	54	0,8600		0,0,4300	yes	missense	MAPK12	NM_002969.3	180	0,13,6489	AA,AG,GG		0.0,0.2952,0.1	probably-damaging	202/368	50694529	13,12991	2202	4300	6502	SO:0001583	missense	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50694529G>A	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.604C>T	22.37:g.50694529G>A	ENSP00000215659:p.Arg202Cys					MAPK12_ENST00000395780.1_Missense_Mutation_p.R112C|MAPK12_ENST00000497036.1_5'UTR	p.R202C	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	919	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	202	MR -> IA (in Ref. 1; CAA55984).		Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	37	c.604C>T	CCDS14089.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	24.8	4.573029	0.86542	0.002952	0.0	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.66280	-0.2;-0.2	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.753578	0.10856	U	0.626599	T	0.66829	0.2829	L	0.39245	1.2	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.999;0.993	D;P;P;P	0.66847	0.947;0.79;0.815;0.685	T	0.71636	-0.4533	10	0.87932	D	0	-11.5876	17.1971	0.86895	0.0:0.0:1.0:0.0	rs2230823	21;112;202;192	B7Z274;B5MDL5;P53778;F6TXG5	.;.;MK12_HUMAN;.	C	192;112;202	ENSP00000379126:R112C;ENSP00000215659:R202C	ENSP00000215659:R202C	R	-	1	0	MAPK12	49036656	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.357000	0.97099	2.289000	0.77006	0.561000	0.74099	CGC		0.612	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		21	28	0	0	0	1	0	21	28				
SLC4A8	9498	broad.mit.edu	37	12	51863479	51863479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51863479G>T	ENST00000453097.2	+	12	1648	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	SLC4A8_ENST00000394856.1_Missense_Mutation_p.Q424H|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000514353.3_Missense_Mutation_p.Q424H|SLC4A8_ENST00000535225.2_Missense_Mutation_p.Q424H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.Q504H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGCTTACAGTGTTTGGCTT	0.542																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1429-1431)caG>caT		solute carrier family 4, sodium bicarbonate cotransporter, member 8							268.0	222.0	237.0					12																	51863479		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51863479G>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1431G>T	12.37:g.51863479G>T	ENSP00000405812:p.Gln477His					SLC4A8_ENST00000514353.3_Missense_Mutation_p.Q424H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.Q504H|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Missense_Mutation_p.Q424H|SLC4A8_ENST00000535225.2_Missense_Mutation_p.Q424H	p.Q477H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	12	1648	+			477						Missense_Mutation	SNP	ENST00000453097.2	37	c.1431G>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600561	0.87055	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.5	4.6	0.57074	Bicarbonate transporter, C-terminal (1);	0.053862	0.85682	D	0.000000	D	0.92622	0.7656	M	0.91354	3.2	0.80722	D	1	D;D;D;D;D;D	0.89917	0.979;0.964;1.0;1.0;0.997;1.0	P;P;D;D;D;D	0.91635	0.873;0.66;0.999;0.992;0.986;0.992	D	0.94225	0.7471	10	0.87932	D	0	.	14.9936	0.71412	0.0:0.0:0.8561:0.1439	.	424;504;424;477;477;477	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	H	424;504;477;424;477;424;424	ENSP00000441520:Q424H;ENSP00000351483:Q504H;ENSP00000405812:Q477H;ENSP00000378325:Q424H;ENSP00000442561:Q424H	ENSP00000315789:Q477H	Q	+	3	2	SLC4A8	50149746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.454000	0.47793	0.655000	0.94253	CAG		0.542	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		10	90	1	0	1.11149e-13	1	1.41171e-13	10	90				
PAPPA2	60676	broad.mit.edu	37	1	176762783	176762783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176762783G>T	ENST00000367662.3	+	20	6272	c.5108G>T	c.(5107-5109)tGg>tTg	p.W1703L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1703	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGAGCACTGGATGGAACCT	0.478																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5107-5109)tGg>tTg		pappalysin 2							134.0	131.0	132.0					1																	176762783		2000	4161	6161	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762783G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5108G>T	1.37:g.176762783G>T	ENSP00000356634:p.Trp1703Leu						p.W1703L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			20	6272	+			1703			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5108G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576546	0.86645	.	.	ENSG00000116183	ENST00000367662	T	0.01725	4.67	5.17	5.17	0.71159	.	0.072004	0.64402	D	0.000009	T	0.07593	0.0191	M	0.77313	2.365	0.80722	D	1	D	0.54964	0.969	P	0.54026	0.74	T	0.01834	-1.1264	10	0.59425	D	0.04	-10.78	15.5755	0.76380	0.0:0.0:1.0:0.0	.	1703	Q9BXP8	PAPP2_HUMAN	L	1703	ENSP00000356634:W1703L	ENSP00000356634:W1703L	W	+	2	0	PAPPA2	175029406	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.833000	0.75334	2.404000	0.81709	0.655000	0.94253	TGG		0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			3	40	1	0	0.00024832	1	0.0002712	3	40				
SNORD114-31	767612	broad.mit.edu	37	14	101458297	101458297	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101458297G>A	ENST00000363219.1	+	0	0				SNORD114-28_ENST00000363610.1_RNA|SNORD114-30_ENST00000364448.1_RNA|SNORD113_ENST00000410163.1_RNA|SNORD114-29_ENST00000364819.1_RNA	NR_003224.1				small nucleolar RNA, C/D box 114-31																		GTCTTCGTCAGTGAATGCCTA	0.393																																						ENST00000364448.1																			0																				137.0	124.0	128.0					14																	101458297		876	1991	2867			0							g.chr14:101458297G>A			14q32.31	2013-09-05			ENSG00000200089	ENSG00000200089		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	33019	non-coding RNA	RNA, small nucleolar						12045206	Standard	NR_003224		Approved	14q(II-31)	uc001yjv.3				14.37:g.101458297G>A								NR_003223.1						0	42	+									RNA	SNP	ENST00000363219.1	37																																																																																						0.393	SNORD114-31-201	KNOWN	basic	snoRNA	snoRNA		NR_003224.1		9	96	0	0	0	1	0	9	96				
SCN2A	6326	broad.mit.edu	37	2	166152580	166152580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166152580C>T	ENST00000375437.2	+	2	537	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	SCN2A_ENST00000375427.2_Missense_Mutation_p.P83S|SCN2A_ENST00000283256.6_Missense_Mutation_p.P83S|SCN2A_ENST00000357398.3_Missense_Mutation_p.P83S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	83					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATCTGGACCCCTACTATAT	0.453																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(247-249)Ccc>Tcc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						95.0	92.0	93.0					2																	166152580		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166152580C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.247C>T	2.37:g.166152580C>T	ENSP00000364586:p.Pro83Ser					SCN2A_ENST00000375437.2_Missense_Mutation_p.P83S|SCN2A_ENST00000375427.2_Missense_Mutation_p.P83S|SCN2A_ENST00000283256.6_Missense_Mutation_p.P83S	p.P83S			Q99250	SCN2A_HUMAN			2	537	+			83					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.247C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429760	0.43122	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96856	-4.15;-4.11;-4.11;-4.11;-4.11	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000005	D	0.96589	0.8887	M	0.85542	2.76	0.52501	D	0.999958	B;B	0.22683	0.073;0.011	B;B	0.27170	0.077;0.035	D	0.94797	0.7967	10	0.46703	T	0.11	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	83;83	Q99250-2;Q99250	.;SCN2A_HUMAN	S	83	ENSP00000406454:P83S;ENSP00000364586:P83S;ENSP00000349973:P83S;ENSP00000283256:P83S;ENSP00000364576:P83S	ENSP00000283256:P83S	P	+	1	0	SCN2A	165860826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.950000	0.70265	2.559000	0.86315	0.655000	0.94253	CCC		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		25	34	0	0	0	1	0	25	34				
MARVELD2	153562	broad.mit.edu	37	5	68715327	68715327	+	Missense_Mutation	SNP	C	C	T	rs145027254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715327C>T	ENST00000325631.5	+	2	189	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R39W	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	39					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGACAGTGAGCGGGCAGTGAG	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16289	0.0		0.0	False		,,,				2504	0.0					ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(115-117)Cgg>Tgg		MARVEL domain containing 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	97.0	102.0		115	3.6	1.0	5	dbSNP_134	102	0,8600		0,0,4300	no	missense	MARVELD2	NM_001038603.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	39/559	68715327	1,13005	2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68715327C>T	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.115C>T	5.37:g.68715327C>T	ENSP00000323264:p.Arg39Trp					MARVELD2_ENST00000413223.2_Missense_Mutation_p.R39W	p.R39W	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	189	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	39					A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.115C>T	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578645	0.28180	2.27E-4	0.0	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000515844;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T;T	0.44083	1.52;0.93;0.94;1.52;1.52;1.52	4.67	3.57	0.40892	.	0.331079	0.25294	N	0.031712	T	0.24236	0.0587	N	0.08118	0	0.21256	N	0.999749	P;D;P	0.54964	0.618;0.969;0.484	B;B;B	0.43123	0.015;0.409;0.007	T	0.11891	-1.0569	10	0.62326	D	0.03	-11.7897	10.9711	0.47441	0.0:0.8883:0.0:0.1117	.	39;39;39	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	W	39	ENSP00000323264:R39W;ENSP00000396244:R39W;ENSP00000421902:R39W;ENSP00000423490:R39W;ENSP00000414776:R39W;ENSP00000398922:R39W	ENSP00000282886:R39W	R	+	1	2	MARVELD2	68751083	1.000000	0.71417	0.999000	0.59377	0.295000	0.27426	1.601000	0.36773	2.148000	0.66965	0.563000	0.77884	CGG		0.552	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		14	21	0	0	0	1	0	14	21				
UQCC2	84300	broad.mit.edu	37	6	33669180	33669180	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33669180G>T	ENST00000607484.1	-	2	196	c.156C>A	c.(154-156)gcC>gcA	p.A52A	UQCC2_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	52					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TCTGATCACAGGCCTCAGGCT	0.493																																						ENST00000607484.1																			0											c.(154-156)gcC>gcA									147.0	140.0	142.0					6																	33669180		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:33669180G>T		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.156C>A	6.37:g.33669180G>T						MNF1_ENST00000374214.3_Intron	p.A52A	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN			2	196	-			52					B2R4I0	Silent	SNP	ENST00000607484.1	37	c.156C>A	CCDS4784.1																																																																																				0.493	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		12	73	1	0	2.68362e-12	1	3.37045e-12	12	73				
PEG10	23089	broad.mit.edu	37	7	94293536	94293536	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94293536T>C	ENST00000482108.1	+	2	1147	c.668T>C	c.(667-669)gTc>gCc	p.V223A	PEG10_ENST00000488574.1_Missense_Mutation_p.V223A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	223	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCTCGAGGTCGCCAAGTCG	0.622																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(667-669)gTc>gCc		paternally expressed 10							71.0	76.0	75.0					7																	94293536		2114	4226	6340	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293536T>C	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.668T>C	7.37:g.94293536T>C	ENSP00000417587:p.Val223Ala					PEG10_ENST00000488574.1_Missense_Mutation_p.V223A	p.V223A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1147	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		223			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.668T>C	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.758964	0.00657	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.10860	2.83;2.83	4.05	-0.668	0.11392	.	.	.	.	.	T	0.02970	0.0088	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45848	-0.9233	9	0.08837	T	0.75	.	3.8818	0.09082	0.1728:0.3873:0.0:0.4399	.	299;223	B4DSP0;Q86TG7	.;PEG10_HUMAN	A	223	ENSP00000417587:V223A;ENSP00000418944:V223A	ENSP00000417587:V223A	V	+	2	0	PEG10	94131472	0.002000	0.14202	0.001000	0.08648	0.635000	0.38103	-0.270000	0.08584	-0.181000	0.10619	0.454000	0.30748	GTC		0.622	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		11	102	0	0	0	1	0	11	102				
NAT9	26151	broad.mit.edu	37	17	72769101	72769101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72769101C>A	ENST00000357814.3	-	4	341	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NAT9_ENST00000578822.1_Missense_Mutation_p.D95Y|NAT9_ENST00000580301.1_Missense_Mutation_p.D89Y|NAT9_ENST00000582870.1_Missense_Mutation_p.D94Y|NAT9_ENST00000583757.1_Missense_Mutation_p.D89Y|NAT9_ENST00000582524.1_Missense_Mutation_p.D90Y|NAT9_ENST00000583476.1_Missense_Mutation_p.D90Y|NAT9_ENST00000580632.1_Missense_Mutation_p.D89Y|NAT9_ENST00000581136.1_Missense_Mutation_p.D90Y|NAT9_ENST00000580216.1_5'UTR	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	90	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AGGTTCACATCTCCCACCATG	0.567																																						ENST00000357814.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						c.(268-270)Gat>Tat		N-acetyltransferase 9 (GCN5-related, putative)							104.0	82.0	90.0					17																	72769101		2203	4300	6503	SO:0001583	missense	26151					protein complex	N-acetyltransferase activity	g.chr17:72769101C>A	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.268G>T	17.37:g.72769101C>A	ENSP00000350467:p.Asp90Tyr					NAT9_ENST00000578822.1_Missense_Mutation_p.D95Y|NAT9_ENST00000581136.1_Missense_Mutation_p.D90Y|NAT9_ENST00000583757.1_Missense_Mutation_p.D89Y|NAT9_ENST00000583476.1_Missense_Mutation_p.D90Y|NAT9_ENST00000582870.1_Missense_Mutation_p.D94Y|NAT9_ENST00000580301.1_Missense_Mutation_p.D89Y|NAT9_ENST00000582524.1_Missense_Mutation_p.D90Y|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000580632.1_Missense_Mutation_p.D89Y	p.D90Y	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN			4	341	-			90			N-acetyltransferase.		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	c.268G>T	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936064	0.52972	.	.	ENSG00000109065	ENST00000357814	T	0.43688	0.94	5.41	5.41	0.78517	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70659	-0.4811	10	0.49607	T	0.09	-25.4903	19.1608	0.93531	0.0:1.0:0.0:0.0	.	89;90	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	Y	90	ENSP00000350467:D90Y	ENSP00000350467:D90Y	D	-	1	0	NAT9	70280696	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.744000	0.85034	2.689000	0.91719	0.655000	0.94253	GAT		0.567	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		8	23	1	0	0.00307968	1	0.00325696	8	23				
CAPN10	11132	broad.mit.edu	37	2	241536168	241536168	+	Nonsense_Mutation	SNP	C	C	T	rs529342399		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241536168C>T	ENST00000391984.2	+	9	1748	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000404753.3_Nonsense_Mutation_p.Q518*|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	518	Domain III 2.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGGACCGTGCAGCTACGGGG	0.677																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1552-1554)Cag>Tag		calpain 10							28.0	35.0	33.0					2																	241536168		1904	4112	6016	SO:0001587	stop_gained	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241536168C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1552C>T	2.37:g.241536168C>T	ENSP00000375844:p.Gln518*					CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Nonsense_Mutation_p.Q518*	p.Q518*	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	9	1748	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	518			Domain III 2.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Nonsense_Mutation	SNP	ENST00000391984.2	37	c.1552C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.856144	0.97030	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	.	.	.	4.76	3.87	0.44632	.	0.298705	0.32935	U	0.005467	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	8.1547	0.31162	0.1795:0.6469:0.1736:0.0	.	.	.	.	X	518	.	ENSP00000375844:Q518X	Q	+	1	0	CAPN10	241184841	0.950000	0.32346	0.965000	0.40720	0.475000	0.33008	2.495000	0.45337	0.985000	0.38656	0.651000	0.88453	CAG		0.677	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		6	55	0	0	0	1	0	6	55				
MRPS27	23107	broad.mit.edu	37	5	71516782	71516782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71516782G>A	ENST00000261413.5	-	11	1238	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	MRPS27_ENST00000522562.1_5'Flank|MRPS27_ENST00000457646.4_Missense_Mutation_p.A344V|MRPS27_ENST00000513900.1_Missense_Mutation_p.A414V	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	400						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTCCTGCTTCGCTTGCTCCCT	0.547																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(1198-1200)gCg>gTg		mitochondrial ribosomal protein S27							173.0	151.0	159.0					5																	71516782		2203	4300	6503	SO:0001583	missense	23107					mitochondrion|ribosome		g.chr5:71516782G>A	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.1199C>T	5.37:g.71516782G>A	ENSP00000261413:p.Ala400Val					MRPS27_ENST00000457646.4_Missense_Mutation_p.A344V|MRPS27_ENST00000513900.1_Missense_Mutation_p.A414V	p.A400V	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	11	1238	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	400					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.1199C>T	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921760	0.52653	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900	T;T;T	0.47528	0.84;0.84;0.84	6.03	5.16	0.70880	.	0.102328	0.64402	D	0.000002	T	0.52419	0.1733	M	0.75264	2.295	0.80722	D	1	P;P;P	0.52316	0.482;0.952;0.482	B;B;B	0.43194	0.145;0.411;0.145	T	0.60306	-0.7289	10	0.54805	T	0.06	-13.8885	15.505	0.75731	0.0662:0.0:0.9338:0.0	.	414;181;400	B4DRT2;E7ETN4;Q92552	.;.;RT27_HUMAN	V	400;344;414	ENSP00000261413:A400V;ENSP00000428120:A344V;ENSP00000426941:A414V	ENSP00000261413:A400V	A	-	2	0	MRPS27	71552538	1.000000	0.71417	0.072000	0.20136	0.014000	0.08584	6.812000	0.75226	1.558000	0.49541	0.655000	0.94253	GCG		0.547	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		47	53	0	0	0	1	0	47	53				
TSSC4	10078	broad.mit.edu	37	11	2427272	2427272	+	IGR	SNP	G	G	A	rs142372288	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2427272G>A	ENST00000333256.6	+	0	1686				TRPM5_ENST00000452833.1_Missense_Mutation_p.R1103C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1109C|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1101C|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1101C			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTTGATGCGCTTTTCTTGC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		19136	0.002		0.0	False		,,,				2504	0.0					ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(3307-3309)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 5		G	CYS/ARG	0,4402		0,0,2201	110.0	90.0	97.0		3301	1.6	0.0	11	dbSNP_134	97	1,8597	1.2+/-3.3	0,1,4298	no	missense	TRPM5	NM_014555.3	180	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1101/1166	2427272	1,12999	2201	4299	6500	SO:0001628	intergenic_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2427272G>A	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2427272G>A						TRPM5_ENST00000155858.6_Missense_Mutation_p.R1101C|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1109C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1101C	p.R1103C			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	22	3315	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	1101					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.3307C>T	CCDS7735.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.66	2.603204	0.46423	0.0	1.16E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.66995	0.11;0.05;0.05;-0.24;0.05	3.65	1.6	0.23607	.	0.099573	0.41605	D	0.000859	T	0.76133	0.3945	M	0.69358	2.11	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.96;0.96;0.994	T	0.66023	-0.6026	10	0.72032	D	0.01	-19.6356	9.2111	0.37320	0.0:0.0:0.5903:0.4097	.	1109;1103;1101	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	C	1095;1101;1103;1109;1101	ENSP00000434383:R1095C;ENSP00000155858:R1101C;ENSP00000387965:R1103C;ENSP00000434121:R1109C;ENSP00000436809:R1101C	ENSP00000155858:R1101C	R	-	1	0	TRPM5	2383848	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.210000	0.17455	0.289000	0.22422	0.491000	0.48974	CGC		0.637	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		7	19	0	0	0	1	0	7	19				
MIR518F	574472	broad.mit.edu	37	19	54204498	54204498	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54204498C>A	ENST00000384973.1	+	0	87				MIR520B_ENST00000384989.1_RNA|MIR518B_ENST00000385127.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		CAGGGAAGCGCTTTCTGTTGT	0.418																																						ENST00000384989.1																			0																				77.0	72.0	74.0					19																	54204498		1568	3582	5150			0							g.chr19:54204498C>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54204498C>A								NR_030195.1						0	18	+									RNA	SNP	ENST00000384973.1	37																																																																																						0.418	MIR518F-201	KNOWN	basic	miRNA	miRNA		NR_030194		4	40	1	0	0.00909568	1	0.00947522	4	40				
KRT26	353288	broad.mit.edu	37	17	38922877	38922877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922877G>A	ENST00000335552.4	-	8	1345	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATTTGATCCAGTTCCTCAACC	0.338																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(1297-1299)Ctg>Ttg		keratin 26							170.0	164.0	166.0					17																	38922877		2203	4300	6503	SO:0001819	synonymous_variant	353288					intermediate filament	structural molecule activity	g.chr17:38922877G>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.1297C>T	17.37:g.38922877G>A							p.L433L	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			8	1345	-		Breast(137;0.00526)	433			Tail.			Silent	SNP	ENST00000335552.4	37	c.1297C>T	CCDS11374.1																																																																																				0.338	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		26	44	0	0	0	1	0	26	44				
PYCARD	29108	broad.mit.edu	37	16	31213042	31213042	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213042G>A	ENST00000247470.9	-	3	753	c.452C>T	c.(451-453)gCc>gTc	p.A151V	C16orf98_ENST00000561916.2_5'Flank|PYCARD_ENST00000350605.4_Missense_Mutation_p.A132V	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	151	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						GGTGGGCTCGGCCCGCACTGC	0.607																																						ENST00000247470.9																			0				NS(1)|kidney(1)	2						c.(451-453)gCc>gTc		PYD and CARD domain containing							122.0	101.0	108.0					16																	31213042		2197	4300	6497	SO:0001583	missense	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213042G>A	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.452C>T	16.37:g.31213042G>A	ENSP00000247470:p.Ala151Val					PYCARD_ENST00000350605.4_Missense_Mutation_p.A132V	p.A151V	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN			3	753	-			151			CARD.		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.452C>T	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382177	0.61845	.	.	ENSG00000103490	ENST00000350605;ENST00000247470;ENST00000355986	T;T	0.23552	1.9;1.9	5.31	5.31	0.75309	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.51477	D	0.000092	T	0.54727	0.1876	M	0.87547	2.89	0.21933	N	0.999465	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.54603	-0.8269	10	0.87932	D	0	.	12.583	0.56401	0.0:0.1672:0.8328:0.0	.	151;132	Q9ULZ3;Q9ULZ3-2	ASC_HUMAN;.	V	132;151;91	ENSP00000340441:A132V;ENSP00000247470:A151V	ENSP00000247470:A151V	A	-	2	0	PYCARD	31120543	0.159000	0.22864	0.695000	0.30226	0.058000	0.15608	2.436000	0.44819	2.655000	0.90218	0.655000	0.94253	GCC		0.607	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		36	42	0	0	0	1	0	36	42				
BTBD1	53339	broad.mit.edu	37	15	83725176	83725176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83725176G>T	ENST00000261721.4	-	2	725	c.523C>A	c.(523-525)Ctt>Att	p.L175I	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L175I|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	175					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TCTGCCCTAAGATGTTTGGTG	0.368																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(523-525)Ctt>Att		BTB (POZ) domain containing 1							112.0	97.0	102.0					15																	83725176		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83725176G>T	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.523C>A	15.37:g.83725176G>T	ENSP00000261721:p.Leu175Ile					RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L175I|RP11-382A20.6_ENST00000568441.1_RNA	p.L175I	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	2	725	-			175					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.523C>A	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722415	0.68959	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.25749	1.78;1.78	5.92	5.0	0.66597	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.82823	2.61	0.80722	D	1	P;D	0.67145	0.914;0.996	D;D	0.72338	0.953;0.977	T	0.62062	-0.6933	10	0.56958	D	0.05	-13.8706	16.5422	0.84395	0.0:0.0:0.8683:0.1317	.	175;175	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	I	175	ENSP00000261721:L175I;ENSP00000368713:L175I	ENSP00000261721:L175I	L	-	1	0	BTBD1	81516180	1.000000	0.71417	0.835000	0.33067	0.998000	0.95712	7.933000	0.87642	1.481000	0.48307	0.650000	0.86243	CTT		0.368	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			12	30	1	0	1.61879e-10	1	1.99744e-10	12	30				
MPV17	4358	broad.mit.edu	37	2	27545327	27545327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27545327C>T	ENST00000380044.1	-	2	113	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	MPV17_ENST00000399052.4_Missense_Mutation_p.V20I|MPV17_ENST00000405076.1_Missense_Mutation_p.V20I|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405983.1_Missense_Mutation_p.V20I|MPV17_ENST00000402722.1_Missense_Mutation_p.V20I|MPV17_ENST00000233545.2_Missense_Mutation_p.V20I|MPV17_ENST00000403262.2_Missense_Mutation_p.V20I|MPV17_ENST00000402310.1_Missense_Mutation_p.V20I	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	20					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTCAGGACCTGTACTTTC	0.627																																						ENST00000380044.1																			0				lung(4)	4						c.(58-60)Gtc>Atc		MpV17 mitochondrial inner membrane protein							67.0	71.0	70.0					2																	27545327		2203	4300	6503	SO:0001583	missense	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27545327C>T		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.58G>A	2.37:g.27545327C>T	ENSP00000369383:p.Val20Ile					MPV17_ENST00000402722.1_Missense_Mutation_p.V20I|MPV17_ENST00000233545.2_Missense_Mutation_p.V20I|MPV17_ENST00000405983.1_Missense_Mutation_p.V20I|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.V20I|MPV17_ENST00000405076.1_Missense_Mutation_p.V20I|MPV17_ENST00000402310.1_Missense_Mutation_p.V20I|MPV17_ENST00000399052.4_Missense_Mutation_p.V20I	p.V20I	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN			2	113	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		20					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.58G>A	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455538	0.26161	.	.	ENSG00000115204	ENST00000402310;ENST00000233545;ENST00000380044;ENST00000402722;ENST00000405983;ENST00000405076;ENST00000403262;ENST00000399052	D;D;D;T;D;D;D;T	0.91631	-2.05;-2.52;-2.52;-1.38;-2.48;-2.88;-2.05;-1.4	4.68	1.78	0.24846	.	0.207190	0.39759	N	0.001280	T	0.78585	0.4306	N	0.13098	0.295	0.20703	N	0.999863	B;B	0.20052	0.0;0.041	B;B	0.16722	0.003;0.016	T	0.61412	-0.7068	10	0.10111	T	0.7	.	3.1913	0.06618	0.1811:0.5474:0.1751:0.0964	.	20;20	P39210;B5MC53	MPV17_HUMAN;.	I	20	ENSP00000383955:V20I;ENSP00000233545:V20I;ENSP00000369383:V20I;ENSP00000386000:V20I;ENSP00000384586:V20I;ENSP00000385175:V20I;ENSP00000385671:V20I;ENSP00000382006:V20I	ENSP00000233545:V20I	V	-	1	0	MPV17	27398831	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.264000	0.18497	0.257000	0.21650	0.555000	0.69702	GTC		0.627	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		27	46	0	0	0	1	0	27	46				
TBC1D19	55296	broad.mit.edu	37	4	26640404	26640404	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26640404A>G	ENST00000264866.4	+	6	659	c.381A>G	c.(379-381)ggA>ggG	p.G127G	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Silent_p.G62G|AC093807.1_ENST00000580172.1_RNA	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	127							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGCCAGTTGGAGAACAGAAAG	0.303																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(379-381)ggA>ggG		TBC1 domain family, member 19							78.0	81.0	80.0					4																	26640404		2203	4296	6499	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26640404A>G	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.381A>G	4.37:g.26640404A>G						TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Silent_p.G62G	p.G127G	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			6	659	+		Breast(46;0.0503)	127					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.381A>G	CCDS3439.1																																																																																				0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		24	43	0	0	0	1	0	24	43				
AHCTF1	25909	broad.mit.edu	37	1	247030630	247030630	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247030630G>T	ENST00000391829.2	-	26	3386	c.3263C>A	c.(3262-3264)cCt>cAt	p.P1088H	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.P1123H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P1097H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1088	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATACACTATAGGAGATGGTTC	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3367-3369)cCt>cAt		AT hook containing transcription factor 1							28.0	30.0	29.0					1																	247030630		2201	4298	6499	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247030630G>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3263C>A	1.37:g.247030630G>T	ENSP00000375705:p.Pro1088His					AHCTF1_ENST00000391829.2_Missense_Mutation_p.P1088H|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P1097H	p.P1123H			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		26	3504	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1088					A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3368C>A		.	.	.	.	.	.	.	.	.	.	G	12.74	2.027701	0.35797	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.74947	-0.89;-0.89;-0.89	5.06	4.14	0.48551	.	0.616926	0.17602	N	0.168365	T	0.80476	0.4630	M	0.61703	1.905	0.26960	N	0.965826	D;D	0.69078	0.997;0.991	D;P	0.63192	0.912;0.707	T	0.70586	-0.4831	10	0.48119	T	0.1	-10.8747	8.3738	0.32432	0.0895:0.158:0.7525:0.0	.	1123;1088	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	H	1123;1097;1088	ENSP00000355464:P1123H;ENSP00000355465:P1097H;ENSP00000375705:P1088H	ENSP00000355465:P1097H	P	-	2	0	AHCTF1	245097253	1.000000	0.71417	0.943000	0.38184	0.233000	0.25261	4.656000	0.61483	1.260000	0.44134	-0.314000	0.08810	CCT		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		7	18	1	0	0.0293803	1	0.0301098	7	18				
EMP2	2013	broad.mit.edu	37	16	10626797	10626797	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10626797C>T	ENST00000359543.3	-	5	678	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	RP11-27M24.1_ENST00000535363.1_RNA|EMP2_ENST00000536829.1_Missense_Mutation_p.G157S|EMP2_ENST00000566033.1_5'Flank	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	157					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TACATCATGCCGCTGATGAAG	0.502																																					GBM(158;2021 2691 14714 39478)	ENST00000359543.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(469-471)Ggc>Agc		epithelial membrane protein 2							115.0	97.0	103.0					16																	10626797		2197	4300	6497	SO:0001583	missense	2013				cell proliferation	integral to membrane		g.chr16:10626797C>T	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.469G>A	16.37:g.10626797C>T	ENSP00000352540:p.Gly157Ser					EMP2_ENST00000536829.1_Missense_Mutation_p.G157S	p.G157S	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN			5	678	-			157					B2R7V6|D3DUF8	Missense_Mutation	SNP	ENST00000359543.3	37	c.469G>A	CCDS10541.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636649	0.67130	.	.	ENSG00000213853	ENST00000359543;ENST00000536829	D;D	0.98684	-5.07;-5.07	5.26	3.3	0.37823	.	0.057877	0.64402	U	0.000001	D	0.96648	0.8906	M	0.62154	1.92	0.58432	D	0.99999	D	0.57257	0.979	B	0.40741	0.339	D	0.94002	0.7276	10	0.45353	T	0.12	-16.6795	8.3332	0.32200	0.0:0.7597:0.0:0.2403	.	157	P54851	EMP2_HUMAN	S	157	ENSP00000352540:G157S;ENSP00000445712:G157S	ENSP00000352540:G157S	G	-	1	0	EMP2	10534298	0.999000	0.42202	0.988000	0.46212	0.840000	0.47671	3.714000	0.54889	0.721000	0.32231	0.655000	0.94253	GGC		0.502	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		6	59	0	0	0	1	0	6	59				
VCAM1	7412	broad.mit.edu	37	1	101186146	101186146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101186146G>A	ENST00000294728.2	+	2	280	c.179G>A	c.(178-180)aGa>aAa	p.R60K	VCAM1_ENST00000347652.2_Missense_Mutation_p.R60K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.R60K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	60	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.R60K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTCTTGGAGAACCCAGATA	0.478																																						ENST00000294728.2																			1	Substitution - Missense(1)	p.R60K(1)	lung(1)	central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(178-180)aGa>aAa		vascular cell adhesion molecule 1	Carvedilol(DB01136)						80.0	74.0	76.0					1																	101186146		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101186146G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.179G>A	1.37:g.101186146G>A	ENSP00000294728:p.Arg60Lys					VCAM1_ENST00000370115.1_Missense_Mutation_p.R60K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.R60K	p.R60K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	280	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	60			Ig-like C2-type 1.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.179G>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356364	0.82243	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.09255	3.0;3.0;3.0	5.72	4.81	0.61882	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144158	0.64402	D	0.000010	T	0.24547	0.0595	M	0.80982	2.52	0.35102	D	0.765375	P;D	0.76494	0.946;0.999	P;D	0.91635	0.498;0.999	T	0.13388	-1.0511	9	.	.	.	-14.6127	14.8055	0.69952	0.0:0.1439:0.856:0.0	.	60;60	P19320-2;P19320	.;VCAM1_HUMAN	K	60	ENSP00000304611:R60K;ENSP00000294728:R60K;ENSP00000359133:R60K	.	R	+	2	0	VCAM1	100958734	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.615000	0.61190	1.398000	0.46701	0.655000	0.94253	AGA		0.478	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		28	69	0	0	0	1	0	28	69				
SYT13	57586	broad.mit.edu	37	11	45265741	45265741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45265741C>A	ENST00000020926.3	-	6	1254	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	381	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGAATCGTCCTGGCCCAGCA	0.607																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(1141-1143)caG>caT		synaptotagmin XIII							94.0	82.0	86.0					11																	45265741		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45265741C>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1143G>T	11.37:g.45265741C>A	ENSP00000020926:p.Gln381His						p.Q381H	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			6	1254	-			381			C2 2.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.1143G>T	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843935	0.32606	.	.	ENSG00000019505	ENST00000020926	T	0.68331	-0.32	5.54	3.67	0.42095	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.159353	0.44285	D	0.000476	T	0.40595	0.1123	N	0.02379	-0.575	0.37297	D	0.908509	B	0.16603	0.018	B	0.15870	0.014	T	0.36456	-0.9747	10	0.54805	T	0.06	.	11.3536	0.49602	0.0:0.8049:0.1268:0.0683	.	381	Q7L8C5	SYT13_HUMAN	H	381	ENSP00000020926:Q381H	ENSP00000020926:Q381H	Q	-	3	2	SYT13	45222317	1.000000	0.71417	0.941000	0.38009	0.785000	0.44390	3.086000	0.50159	0.707000	0.31934	0.655000	0.94253	CAG		0.607	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		21	33	1	0	5.26018e-13	1	6.65277e-13	21	33				
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587193G>A	ENST00000591111.1	-	75	21594	c.21370C>T	c.(21370-21372)Cga>Tga	p.R7124*	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7441*|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12700	Ig-like 53.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418																																						ENST00000589042.1																			1	Substitution - Nonsense(1)	p.R6197*(1)	endometrium(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(22321-22323)Cga>Tga		titin							94.0	91.0	92.0					2																	179587193		1865	4122	5987	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587193G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21370C>T	2.37:g.179587193G>A	ENSP00000465570:p.Arg7124*					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*	p.R7441*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	22545	-			7124	S -> N (in Ref. 1; CAA62189).		Ig-like 56.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.22321C>T		.	.	.	.	.	.	.	.	.	.	G	58	31.894429	0.99979	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.95	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2951	0.82767	0.0:0.0:0.8666:0.1334	.	.	.	.	X	6197	.	ENSP00000343764:R6197X	R	-	1	2	TTN	179295438	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	3.754000	0.55189	1.458000	0.47871	0.650000	0.86243	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	59	0	0	0	1	0	25	59				
ATRX	546	broad.mit.edu	37	X	76939695	76939695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76939695C>A	ENST00000373344.5	-	9	1267	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	ATRX_ENST00000395603.3_Missense_Mutation_p.E313D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTTAATCATCTCTTTGGGCA	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1051-1053)gaG>gaT		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						84.0	80.0	81.0					X																	76939695		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939695C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1053G>T	X.37:g.76939695C>A	ENSP00000362441:p.Glu351Asp					ATRX_ENST00000395603.3_Missense_Mutation_p.E313D|ATRX_ENST00000480283.1_5'UTR	p.E351D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1267	-			351					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1053G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	3.862	-0.029582	0.07589	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91996	-2.91;-2.95	5.3	-2.52	0.06346	.	0.196705	0.43579	N	0.000553	T	0.75824	0.3902	N	0.05012	-0.13	0.80722	D	1	B;B;B;B	0.10296	0.0;0.003;0.0;0.0	B;B;B;B	0.12837	0.001;0.008;0.002;0.001	T	0.59752	-0.7395	10	0.07813	T	0.8	-1.1203	8.7373	0.34537	0.0:0.4275:0.2742:0.2983	.	351;312;313;351	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	D	351;313;307	ENSP00000362441:E351D;ENSP00000378967:E313D	ENSP00000362441:E351D	E	-	3	2	ATRX	76826351	0.725000	0.28048	0.970000	0.41538	0.957000	0.61999	-0.003000	0.12901	-0.406000	0.07588	-1.294000	0.01345	GAG		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	76	1	0	4.14194e-30	1	5.54707e-30	44	76				
C1orf210	149466	broad.mit.edu	37	1	43748742	43748742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43748742G>A	ENST00000523677.1	-	3	289	c.56C>T	c.(55-57)gCt>gTt	p.A19V	C1orf210_ENST00000423420.1_Missense_Mutation_p.A19V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	19						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGGCCACAGCAGACGCTGT	0.637																																						ENST00000523677.1																			0				breast(1)	1						c.(55-57)gCt>gTt		chromosome 1 open reading frame 210							28.0	30.0	29.0					1																	43748742		2203	4300	6503	SO:0001583	missense	149466					integral to membrane		g.chr1:43748742G>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.56C>T	1.37:g.43748742G>A	ENSP00000430918:p.Ala19Val					C1orf210_ENST00000423420.1_Missense_Mutation_p.A19V	p.A19V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN			3	289	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	19					D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	37	c.56C>T	CCDS481.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880815	0.33255	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.47869	0.83;0.83	4.96	4.03	0.46877	.	0.681546	0.14915	N	0.290985	T	0.42899	0.1223	L	0.51422	1.61	0.09310	N	1	B	0.27932	0.194	B	0.29785	0.107	T	0.28004	-1.0057	10	0.27082	T	0.32	.	12.1587	0.54091	0.0:0.0:0.8288:0.1712	.	19	Q8IVY1	CA210_HUMAN	V	19	ENSP00000430918:A19V;ENSP00000429399:A19V	ENSP00000429399:A19V	A	-	2	0	C1orf210	43521329	0.009000	0.17119	0.004000	0.12327	0.096000	0.18686	1.749000	0.38319	1.293000	0.44690	0.561000	0.74099	GCT		0.637	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		9	18	0	0	0	1	0	9	18				
DYSF	8291	broad.mit.edu	37	2	71908241	71908241	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71908241G>A	ENST00000258104.3	+	53	6333		c.e53+1		DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGACCCAAGGTCAGTGCCCA	0.587																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CD044974	DYSF	D		c.e53+1		dysferlin							49.0	45.0	46.0					2																	71908241		2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71908241G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6056+1G>A	2.37:g.71908241G>A						DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site		NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			53	6333	+								A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37		CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268614	0.59540	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7956	0.88568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYSF	71761749	1.000000	0.71417	0.958000	0.39756	0.235000	0.25334	9.777000	0.99008	2.799000	0.96334	0.650000	0.86243	.		0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Intron	9	11	0	0	0	1	0	9	11				
KLF12	11278	broad.mit.edu	37	13	74420243	74420243	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:74420243T>G	ENST00000377669.2	-	3	417	c.391A>C	c.(391-393)Aca>Cca	p.T131P	KLF12_ENST00000377666.4_Missense_Mutation_p.T131P|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	131					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GATACTGATGTGATAACAGTT	0.488																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(391-393)Aca>Cca		Kruppel-like factor 12							138.0	108.0	118.0					13																	74420243		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420243T>G	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.391A>C	13.37:g.74420243T>G	ENSP00000366897:p.Thr131Pro					KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.T131P	p.T131P	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	417	-		Prostate(6;0.00217)|Breast(118;0.0838)	131					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.391A>C	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395147	0.42512	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.27402	1.67;1.67	5.89	5.89	0.94794	.	0.253455	0.47852	D	0.000214	T	0.32164	0.0820	L	0.61218	1.895	0.58432	D	0.999998	P	0.48911	0.917	B	0.41135	0.348	T	0.11251	-1.0595	10	0.17369	T	0.5	.	15.4921	0.75615	0.0:0.0:0.0:1.0	.	131	Q9Y4X4	KLF12_HUMAN	P	131	ENSP00000366897:T131P;ENSP00000366894:T131P	ENSP00000344057:T131P	T	-	1	0	KLF12	73318244	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	3.602000	0.54066	2.257000	0.74773	0.460000	0.39030	ACA		0.488	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		11	13	0	0	0	1	0	11	13				
MT4	84560	broad.mit.edu	37	16	56602768	56602768	+	Missense_Mutation	SNP	G	G	A	rs543306573	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56602768G>A	ENST00000219162.3	+	3	193	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGC	0.602																																						ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tGc>tAc		metallothionein 4							113.0	123.0	120.0					16																	56602768		2193	4296	6489	SO:0001583	missense	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768G>A	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.113G>A	16.37:g.56602768G>A	ENSP00000219162:p.Cys38Tyr						p.C38Y	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	193	+			38					Q14DA1	Missense_Mutation	SNP	ENST00000219162.3	37	c.113G>A	CCDS42165.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033255	0.54896	.	.	ENSG00000102891	ENST00000219162	T	0.12465	2.68	5.92	5.92	0.95590	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.03993	-1.0986	9	0.56958	D	0.05	-3.6786	15.8214	0.78648	0.0:0.0:1.0:0.0	.	38	P47944	MT4_HUMAN	Y	38	ENSP00000219162:C38Y	ENSP00000219162:C38Y	C	+	2	0	MT4	55160269	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.701000	0.74624	2.810000	0.96702	0.650000	0.86243	TGC		0.602	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		66	133	0	0	0	1	0	66	133				
BCL6	604	broad.mit.edu	37	3	187446838	187446838	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187446838C>A	ENST00000406870.2	-	5	1721	c.1355G>T	c.(1354-1356)aGg>aTg	p.R452M	BCL6_ENST00000450123.2_Splice_Site_p.R452M|BCL6_ENST00000232014.4_Splice_Site_p.R452M|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	452					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGAAATCACCTGTTAACGAT	0.542			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.e5+1		B-cell CLL/lymphoma 6							55.0	58.0	57.0					3																	187446838		2203	4300	6503	SO:0001630	splice_region_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187446838C>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1355+1G>T	3.37:g.187446838C>A						BCL6_ENST00000232014.4_Splice_Site_p.R452_splice|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Splice_Site_p.R452_splice|RP11-211G3.3_ENST00000449623.1_Intron	p.R452_splice	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1721	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		452					A7E241|B8PSA7|D3DNV5	Splice_Site	SNP	ENST00000406870.2	37	c.1355_splice	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522992	0.85600	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.09255	3.0;3.0;3.05	5.45	5.45	0.79879	.	0.085859	0.85682	D	0.000000	T	0.22126	0.0533	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.01626	-1.1309	9	.	.	.	.	18.6606	0.91470	0.0:1.0:0.0:0.0	.	452;452	B8PSA7;P41182	.;BCL6_HUMAN	M	452	ENSP00000384371:R452M;ENSP00000232014:R452M;ENSP00000413122:R452M	.	R	-	2	0	BCL6	188929532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.499000	0.66937	2.739000	0.93911	0.561000	0.74099	AGG		0.542	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	Missense_Mutation	4	26	1	0	0.184627	1	0.186383	4	26				
MYLK3	91807	broad.mit.edu	37	16	46771675	46771675	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771675C>A	ENST00000394809.4	-	3	1064	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	317					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGCAGCCCTGGAGGCCCT	0.657																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(949-951)Ggg>Tgg		myosin light chain kinase 3							52.0	48.0	49.0					16																	46771675		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46771675C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.949G>T	16.37:g.46771675C>A	ENSP00000378288:p.Gly317Trp					MYLK3_ENST00000536476.1_Intron	p.G317W	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			3	1064	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	317					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.949G>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086016	0.36855	.	.	ENSG00000140795	ENST00000394809	T	0.69306	-0.39	3.5	1.5	0.22942	.	.	.	.	.	T	0.65069	0.2656	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.66497	0.944	T	0.52983	-0.8502	9	0.72032	D	0.01	.	5.7708	0.18251	0.0:0.7432:0.0:0.2568	.	317	Q32MK0	MYLK3_HUMAN	W	317	ENSP00000378288:G317W	ENSP00000378288:G317W	G	-	1	0	MYLK3	45329176	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.458000	0.21892	0.283000	0.22279	-0.140000	0.14226	GGG		0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		7	61	1	0	0.0381472	1	0.0390147	7	61				
PDS5A	23244	broad.mit.edu	37	4	39878617	39878617	+	Nonsense_Mutation	SNP	G	G	A	rs374880952		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39878617G>A	ENST00000303538.8	-	19	2688	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACTCACGATCGTATCTGGGGA	0.383																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(2149-2151)Cga>Tga		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							144.0	126.0	131.0					4																	39878617		1838	4087	5925	SO:0001587	stop_gained	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39878617G>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2149C>T	4.37:g.39878617G>A	ENSP00000303427:p.Arg717*						p.R717*	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			19	2688	-			717						Nonsense_Mutation	SNP	ENST00000303538.8	37	c.2149C>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	43	10.265128	0.99371	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.04	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6681	0.45743	0.0:0.0:0.5795:0.4205	.	.	.	.	X	717	.	.	R	-	1	2	PDS5A	39555012	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	1.853000	0.39358	2.501000	0.84356	0.591000	0.81541	CGA		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		12	24	0	0	0	1	0	12	24				
CDRT4	284040	broad.mit.edu	37	17	15341382	15341382	+	Missense_Mutation	SNP	C	C	T	rs140524456	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15341382C>T	ENST00000312177.6	-	4	444	c.164G>A	c.(163-165)cGt>cAt	p.R55H	TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	55										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTCGAGGGCACGCATGCATTC	0.488													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20982	0.0		0.0	False		,,,				2504	0.0					ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(163-165)cGt>cAt		CMT1A duplicated region transcript 4		C	HIS/ARG,	15,4391	22.3+/-47.3	0,15,2188	171.0	145.0	154.0		167,	-7.1	0.0	17	dbSNP_134	154	0,8600		0,0,4300	yes	missense,utr-3	CDRT4,FAM18B2-CDRT4	NM_001204477.1,NM_001204478.1	29,	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	benign,	56/153,	15341382	15,12991	2203	4300	6503	SO:0001583	missense	284040							g.chr17:15341382C>T	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.164G>A	17.37:g.15341382C>T	ENSP00000310031:p.Arg55His					TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	p.R55H	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	444	-			55					A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	37	c.164G>A		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	6.879	0.531610	0.13127	0.003404	0.0	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.31769	1.48	5.01	-7.12	0.01537	.	1.891320	0.02594	N	0.100252	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16305	-1.0407	10	0.15066	T	0.55	-10.9157	5.7337	0.18055	0.1244:0.5337:0.1274:0.2145	.	55	Q8N9R6	CDRT4_HUMAN	H	56;55	ENSP00000310031:R55H	ENSP00000310031:R55H	R	-	2	0	CDRT4	15282107	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.931000	0.03967	-1.826000	0.01205	-2.379000	0.00233	CGT		0.488	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		6	74	0	0	0	1	0	6	74				
PTCD1	26024	broad.mit.edu	37	7	99026725	99026725	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99026725C>A	ENST00000292478.4	-	5	1166		c.e5+1		ATP5J2-PTCD1_ENST00000413834.1_Splice_Site|PTCD1_ENST00000555673.1_Splice_Site|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1						tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGACATACCTGGAGGGCG	0.572																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.e5+1		pentatricopeptide repeat domain 1							217.0	170.0	186.0					7																	99026725		2203	4300	6503	SO:0001630	splice_region_variant	26024							g.chr7:99026725C>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.915+1G>T	7.37:g.99026725C>A						ATP5J2-PTCD1_ENST00000413834.1_Splice_Site|PTCD1_ENST00000555673.1_Splice_Site|PTCD1_ENST00000485746.1_5'UTR		NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		5	1166	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Splice_Site	SNP	ENST00000292478.4	37		CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335383	0.41398	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP5J2-PTCD1;PTCD1	98864661	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	7.308000	0.78929	2.873000	0.98535	0.561000	0.74099	.		0.572	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545	Intron	88	61	1	0	4.21773e-46	1	5.6983e-46	88	61				
SKIDA1	387640	broad.mit.edu	37	10	21804300	21804300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21804300C>A	ENST00000449193.2	-	4	4704	c.2452G>T	c.(2452-2454)Gga>Tga	p.G818*	SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.G739*	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	737						nucleus (GO:0005634)											TCCAGTGTTCCTTCATTTGTC	0.423																																						ENST00000449193.2																			0											c.(2452-2454)Gga>Tga		SKI/DACH domain containing 1							164.0	154.0	157.0					10																	21804300		1906	4114	6020	SO:0001587	stop_gained	387640							g.chr10:21804300C>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2452G>T	10.37:g.21804300C>A	ENSP00000410041:p.Gly818*					SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.G739*	p.G818*	NM_207371.3	NP_997254.3					4	4704	-								B1ANA5|Q6ZMX4|Q8N3C3	Nonsense_Mutation	SNP	ENST00000449193.2	37	c.2452G>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	37	6.123491	0.97305	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	5.64	0.86602	.	0.275897	0.34879	N	0.003603	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	5.3866	20.0534	0.97636	0.0:1.0:0.0:0.0	.	.	.	.	X	818;739	.	ENSP00000442432:G739X	G	-	1	0	C10orf140	21844306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.235000	0.78143	2.821000	0.97095	0.655000	0.94253	GGA		0.423	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		11	116	1	0	3.86212e-05	1	4.30401e-05	11	116				
RTN3	10313	broad.mit.edu	37	11	63487004	63487004	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63487004C>T	ENST00000377819.5	+	3	1184	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.L325L|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.L232L	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	344					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GACTTGGGATCTGGTTCCCCA	0.408																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1030-1032)Ctg>Ttg		reticulon 3							66.0	66.0	66.0					11																	63487004		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487004C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1030C>T	11.37:g.63487004C>T						RTN3_ENST00000540798.1_Silent_p.L232L|RTN3_ENST00000339997.4_Silent_p.L325L|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	p.L344L	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1184	+			344					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.1030C>T	CCDS58141.1																																																																																				0.408	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		27	33	0	0	0	1	0	27	33				
CBS	875	broad.mit.edu	37	21	44488723	44488723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44488723G>A	ENST00000398165.3	-	4	471	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CBS_ENST00000352178.5_Missense_Mutation_p.A71V|CBS_ENST00000398158.1_Missense_Mutation_p.A71V|CBS_ENST00000359624.3_Missense_Mutation_p.A71V|CBS_ENST00000544202.1_5'UTR|CBS_ENST00000398168.1_Missense_Mutation_p.A71V|CBS_ENST00000470912.1_5'UTR	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	71					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TGGAGATTTTGCCCTGAAACA	0.418																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(211-213)gCa>gTa		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						56.0	57.0	57.0					21																	44488723		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44488723G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.212C>T	21.37:g.44488723G>A	ENSP00000381231:p.Ala71Val					CBS_ENST00000352178.5_Missense_Mutation_p.A71V|CBS_ENST00000359624.3_Missense_Mutation_p.A71V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398158.1_Missense_Mutation_p.A71V|CBS_ENST00000398168.1_Missense_Mutation_p.A71V|CBS_ENST00000544202.1_5'UTR	p.A71V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			4	471	-			71					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.212C>T	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482179	0.26598	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000441030	D;D;D;D;D;D	0.99214	-5.57;-5.57;-5.57;-5.57;-5.57;-5.57	4.6	0.505	0.16953	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.948354	0.08874	N	0.881151	D	0.96500	0.8858	N	0.26130	0.795	0.24165	N	0.995648	B	0.02656	0.0	B	0.01281	0.0	D	0.92118	0.5701	10	0.28530	T	0.3	4.6424	5.8008	0.18412	0.0726:0.118:0.5635:0.2459	.	71	P35520	CBS_HUMAN	V	71;71;71;71;71;28;71	ENSP00000381225:A71V;ENSP00000381231:A71V;ENSP00000352643:A71V;ENSP00000344460:A71V;ENSP00000381234:A71V;ENSP00000388235:A71V	ENSP00000344460:A71V	A	-	2	0	CBS	43361792	0.837000	0.29446	0.000000	0.03702	0.305000	0.27757	4.391000	0.59652	-0.404000	0.07610	-0.808000	0.03180	GCA		0.418	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		13	32	0	0	0	1	0	13	32				
PCED1B	91523	broad.mit.edu	37	12	47472640	47472640	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472640G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Missense_Mutation_p.T49I|AMIGO2_ENST00000550413.1_Missense_Mutation_p.T49I|AMIGO2_ENST00000321382.3_Missense_Mutation_p.T49I|AMIGO2_ENST00000429635.1_Missense_Mutation_p.T49I			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										GACGATGTCAGTGGCACAGAT	0.547																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(145-147)aCt>aTt		adhesion molecule with Ig-like domain 2							78.0	77.0	78.0					12																	47472640		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472640G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472640G>A	Exception_encountered					AMIGO2_ENST00000429635.1_Missense_Mutation_p.T49I|AMIGO2_ENST00000550413.1_Missense_Mutation_p.T49I|AMIGO2_ENST00000321382.3_Missense_Mutation_p.T49I	p.T49I	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	612	-	Renal(347;0.138)|Lung SC(27;0.192)		49			LRRNT.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.146C>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584350	0.46110	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	4.75	4.75	0.60458	Leucine-rich repeat-containing N-terminal (1);	0.372828	0.26979	N	0.021525	T	0.02807	0.0084	L	0.37561	1.115	0.37410	D	0.913213	P	0.49961	0.93	B	0.41571	0.36	T	0.55872	-0.8072	10	0.56958	D	0.05	-14.2713	12.839	0.57790	0.0:0.2684:0.7316:0.0	.	49	Q86SJ2	AMGO2_HUMAN	I	49	ENSP00000266581:T49I;ENSP00000449034:T49I;ENSP00000406020:T49I;ENSP00000320848:T49I	ENSP00000266581:T49I	T	-	2	0	AMIGO2	45758907	1.000000	0.71417	0.975000	0.42487	0.880000	0.50808	4.715000	0.61909	2.580000	0.87095	0.655000	0.94253	ACT		0.547	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		14	71	0	0	0	1	0	14	71				
PALMD	54873	broad.mit.edu	37	1	100127886	100127886	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100127886A>C	ENST00000263174.4	+	2	432	c.57A>C	c.(55-57)aaA>aaC	p.K19N	PALMD_ENST00000605497.1_Missense_Mutation_p.K19N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	19					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		ATAAAAGAAAAATACAGGAAG	0.313																																						ENST00000263174.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(55-57)aaA>aaC		palmdelphin							48.0	53.0	51.0					1																	100127886		2201	4294	6495	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100127886A>C	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.57A>C	1.37:g.100127886A>C	ENSP00000263174:p.Lys19Asn					PALMD_ENST00000605497.1_Missense_Mutation_p.K19N	p.K19N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	2	432	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	19					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.57A>C	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699319	0.68501	.	.	ENSG00000099260	ENST00000263174	T	0.29655	1.56	5.56	4.44	0.53790	.	0.100400	0.64402	D	0.000005	T	0.29850	0.0746	M	0.69823	2.125	0.40488	D	0.980512	D	0.59767	0.986	P	0.53266	0.722	T	0.16512	-1.0400	10	0.62326	D	0.03	-32.8047	8.5274	0.33313	0.9091:0.0:0.0909:0.0	.	19	Q9NP74	PALMD_HUMAN	N	19	ENSP00000263174:K19N	ENSP00000263174:K19N	K	+	3	2	PALMD	99900474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.611000	0.46334	0.955000	0.37878	0.460000	0.39030	AAA		0.313	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		4	49	0	0	0	1	0	4	49				
VCX	26609	broad.mit.edu	37	X	7811790	7811790	+	Silent	SNP	C	C	T	rs200229312		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7811790C>T	ENST00000381059.3	+	3	573	c.354C>T	c.(352-354)agC>agT	p.S118S	VCX_ENST00000341408.4_Silent_p.S118S	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	118	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S118S(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCAGGAGAGCGAGGTGGAAG	0.637																																						ENST00000381059.3																			1	Substitution - coding silent(1)	p.S118S(1)	endometrium(1)	NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(352-354)agC>agT		variable charge, X-linked							54.0	67.0	62.0					X																	7811790		2129	4090	6219	SO:0001819	synonymous_variant	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811790C>T	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.354C>T	X.37:g.7811790C>T						VCX_ENST00000341408.4_Silent_p.S118S	p.S118S	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN			3	573	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	118			10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.		A0JNS5|Q4V774|Q9P0H3	Silent	SNP	ENST00000381059.3	37	c.354C>T	CCDS14128.1																																																																																				0.637	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		43	109	0	0	0	1	0	43	109				
TPH1	7166	broad.mit.edu	37	11	18042548	18042548	+	Missense_Mutation	SNP	G	G	A	rs147642427		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18042548G>A	ENST00000250018.2	-	10	1887	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	TPH1_ENST00000525406.1_5'Flank|TPH1_ENST00000341556.2_Intron|RP1-59M18.2_ENST00000525523.1_RNA	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	442					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTAGATACTCGGCTTCCTGCT	0.498																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(1324-1326)cCg>cTg		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	A	LEU/PRO	1,4399	2.1+/-5.4	0,1,2199	197.0	188.0	191.0		1325	-8.7	0.0	11	dbSNP_134	191	1,8585	1.2+/-3.3	0,1,4292	no	missense	TPH1	NM_004179.2	98	0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154	benign	442/445	18042548	2,12984	2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18042548G>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1325C>T	11.37:g.18042548G>A	ENSP00000250018:p.Pro442Leu					TPH1_ENST00000341556.2_Intron|RP1-59M18.2_ENST00000525523.1_RNA	p.P442L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			10	1887	-			442					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.1325C>T	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	g	8.462	0.855493	0.17106	2.27E-4	1.16E-4	ENSG00000129167	ENST00000250018	D	0.99532	-6.1	5.53	-8.72	0.00845	.	.	.	.	.	D	0.95020	0.8388	N	0.01352	-0.895	0.48632	D	0.999682	B	0.06786	0.001	B	0.01281	0.0	T	0.75153	-0.3418	9	0.02654	T	1	.	19.178	0.93611	0.892:0.0:0.108:0.0	.	442	P17752	TPH1_HUMAN	L	442	ENSP00000250018:P442L	ENSP00000250018:P442L	P	-	2	0	TPH1	17999124	0.855000	0.29742	0.002000	0.10522	0.224000	0.24922	0.595000	0.24029	-1.674000	0.01461	-0.753000	0.03488	CCG		0.498	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		84	103	0	0	0	1	0	84	103				
VSIG1	340547	broad.mit.edu	37	X	107310334	107310334	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107310334A>C	ENST00000217957.5	+	3	499	c.382A>C	c.(382-384)Aac>Cac	p.N128H	VSIG1_ENST00000415430.3_Missense_Mutation_p.N164H|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	128	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTCGGCCAAAACCAAGGCAT	0.448																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(490-492)Aac>Cac		V-set and immunoglobulin domain containing 1							229.0	173.0	192.0					X																	107310334		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107310334A>C	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.382A>C	X.37:g.107310334A>C	ENSP00000217957:p.Asn128His					VSIG1_ENST00000217957.5_Missense_Mutation_p.N128H|VSIG1_ENST00000485533.1_3'UTR	p.N164H	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			4	651	+			128			Ig-like C2-type 2.		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.490A>C	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018319	0.35606	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.65178	-0.14;-0.14;-0.14	5.19	5.19	0.71726	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.254375	0.33691	N	0.004643	T	0.76535	0.4001	M	0.79123	2.44	0.23376	N	0.997801	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.983	T	0.68792	-0.5315	10	0.44086	T	0.13	.	10.1621	0.42858	1.0:0.0:0.0:0.0	.	164;128	C9J4P2;Q86XK7	.;VSIG1_HUMAN	H	164;128;164	ENSP00000402219:N164H;ENSP00000217957:N128H;ENSP00000407102:N164H	ENSP00000217957:N128H	N	+	1	0	VSIG1	107196990	0.999000	0.42202	0.187000	0.23214	0.035000	0.12851	5.542000	0.67218	1.924000	0.55735	0.481000	0.45027	AAC		0.448	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		68	97	0	0	0	1	0	68	97				
RCBTB2	1102	broad.mit.edu	37	13	49075921	49075921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49075921C>T	ENST00000344532.3	-	12	1624	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D127N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D406N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	401	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TACTTTCCATCAACTAGAAAC	0.383																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1201-1203)Gat>Aat		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							112.0	100.0	104.0					13																	49075921		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49075921C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1201G>A	13.37:g.49075921C>T	ENSP00000345144:p.Asp401Asn					RCBTB2_ENST00000544492.1_Missense_Mutation_p.D127N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D406N	p.D401N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	12	1624	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	401			BTB 1.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1201G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386247	0.82902	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.24350	1.86;1.86;1.86	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.82630	2.6	0.80722	D	1	P;B;D;B	0.76494	0.88;0.031;0.999;0.013	P;B;D;B	0.85130	0.752;0.052;0.997;0.052	T	0.59177	-0.7503	10	0.49607	T	0.09	.	19.3241	0.94254	0.0:1.0:0.0:0.0	.	127;406;353;401	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	N	401;353;406;406;127	ENSP00000345144:D401N;ENSP00000389910:D406N;ENSP00000443862:D127N	ENSP00000345144:D401N	D	-	1	0	RCBTB2	47973922	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	7.439000	0.80444	2.629000	0.89072	0.563000	0.77884	GAT		0.383	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		15	26	0	0	0	1	0	15	26				
NEK8	284086	broad.mit.edu	37	17	27064985	27064985	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27064985C>T	ENST00000268766.6	+	7	1072	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	346					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGAAAGCCGGCGTCACGCGCT	0.682																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1036-1038)ggC>ggT		NIMA-related kinase 8							28.0	34.0	32.0					17																	27064985		2202	4296	6498	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27064985C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1038C>T	17.37:g.27064985C>T						AC010761.6_ENST00000584779.1_RNA	p.G346G	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			7	1072	+	Lung NSC(42;0.0158)		346					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.1038C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	1.903	-0.452607	0.04540	.	.	ENSG00000160602	ENST00000543014	T	0.70986	-0.53	5.58	-11.2	0.00127	.	.	.	.	.	T	0.61652	0.2364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66787	-0.5835	6	0.59425	D	0.04	.	3.3956	0.07304	0.2008:0.0946:0.4114:0.2933	.	.	.	.	C	400	ENSP00000465859:R400C	ENSP00000446066:R400C	R	+	1	0	NEK8	24089112	0.000000	0.05858	0.054000	0.19295	0.167000	0.22549	-3.161000	0.00577	-1.750000	0.01328	-1.261000	0.01458	CGT		0.682	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			10	25	0	0	0	1	0	10	25				
GPI	2821	broad.mit.edu	37	19	34856219	34856219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34856219G>A	ENST00000356487.5	+	1	289	c.48G>A	c.(46-48)tgG>tgA	p.W16*	GPI_ENST00000586425.1_Nonsense_Mutation_p.W16*|GPI_ENST00000415930.3_Nonsense_Mutation_p.W55*	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	16					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGCAGCAATGGTACCGCGAGC	0.667																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(163-165)tgG>tgA		glucose-6-phosphate isomerase							34.0	35.0	34.0					19																	34856219		2203	4300	6503	SO:0001587	stop_gained	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34856219G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.48G>A	19.37:g.34856219G>A	ENSP00000348877:p.Trp16*					GPI_ENST00000586425.1_Nonsense_Mutation_p.W16*|GPI_ENST00000356487.5_Nonsense_Mutation_p.W16*	p.W55*	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			2	335	+	Esophageal squamous(110;0.162)		16					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Nonsense_Mutation	SNP	ENST00000356487.5	37	c.165G>A	CCDS12437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.214941|5.214941	0.95104|0.95104	.|.	.|.	ENSG00000105220|ENSG00000105220	ENST00000392234|ENST00000415930;ENST00000356487	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.69160|.	0.3080|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	P|.	0.42409|.	0.779|.	B|.	0.37989|.	0.262|.	T|.	0.66960|.	-0.5791|.	6|.	0.87932|0.27082	D|T	0|0.32	-19.9106|-19.9106	17.736|17.736	0.88392|0.88392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19|.	Q59F85|.	.|.	I|X	19|55;16	.|.	ENSP00000376067:V19I|ENSP00000348877:W16X	V|W	+|+	1|3	0|0	GPI|GPI	39548059|39548059	1.000000|1.000000	0.71417|0.71417	0.839000|0.839000	0.33178|0.33178	0.071000|0.071000	0.16799|0.16799	7.880000|7.880000	0.87243|0.87243	2.528000|2.528000	0.85240|0.85240	0.462000|0.462000	0.41574|0.41574	GTA|TGG		0.667	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			8	9	0	0	0	1	0	8	9				
TBC1D26	353149	broad.mit.edu	37	17	15643436	15643436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15643436C>T	ENST00000437605.2	+	9	770	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	TBC1D26_ENST00000579428.1_Missense_Mutation_p.L174F|AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	174	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATGTGACATCCTCGTGGCCTA	0.468																																						ENST00000437605.2																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(520-522)Ctc>Ttc		TBC1 domain family, member 26							132.0	126.0	128.0					17																	15643436		1898	4120	6018	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15643436C>T		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.520C>T	17.37:g.15643436C>T	ENSP00000410111:p.Leu174Phe					ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.L174F|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA	p.L174F	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	9	770	+			174			Rab-GAP TBC.		A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.520C>T	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	c	12.26	1.884601	0.33255	.	.	ENSG00000214946	ENST00000437605	T	0.52754	0.65	1.51	1.51	0.23008	Rab-GAP/TBC domain (4);	0.000000	0.64402	U	0.000011	T	0.75280	0.3828	H	0.98314	4.2	0.09310	N	1	D;D	0.71674	0.998;0.997	D;D	0.74674	0.984;0.972	T	0.64875	-0.6304	10	0.87932	D	0	.	6.3343	0.21287	0.0:1.0:0.0:0.0	.	174;174	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	F	174	ENSP00000410111:L174F	ENSP00000410111:L174F	L	+	1	0	TBC1D26	15584161	0.725000	0.28048	0.001000	0.08648	0.001000	0.01503	0.686000	0.25392	0.800000	0.34041	0.467000	0.42956	CTC		0.468	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		44	54	0	0	0	1	0	44	54				
ARHGEF16	27237	broad.mit.edu	37	1	3395175	3395175	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3395175G>A	ENST00000378378.4	+	12	2218	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	ARHGEF16_ENST00000378373.1_Splice_Site_p.A317T|ARHGEF16_ENST00000378371.2_Splice_Site_p.A317T|ARHGEF16_ENST00000413250.2_Splice_Site_p.A309T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	605	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTCGGACTCCGCGTAAGTGGG	0.682																																						ENST00000378378.4																			0				lung(6)|ovary(1)	7						c.e12+1		Rho guanine nucleotide exchange factor (GEF) 16							23.0	26.0	25.0					1																	3395175		2184	4279	6463	SO:0001630	splice_region_variant	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3395175G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1814+1G>A	1.37:g.3395175G>A						ARHGEF16_ENST00000413250.2_Splice_Site_p.A309_splice|ARHGEF16_ENST00000378371.2_Splice_Site_p.A317_splice|ARHGEF16_ENST00000378373.1_Splice_Site_p.A317_splice	p.A605_splice	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	12	2218	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	605			PH.		Q86TF0|Q99434	Splice_Site	SNP	ENST00000378378.4	37	c.1814_splice	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394326	0.25205	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.26	3.24	0.37175	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.391708	0.25596	N	0.029585	T	0.64394	0.2594	L	0.44542	1.39	0.27938	N	0.937633	B;B	0.30114	0.269;0.269	B;B	0.26202	0.041;0.067	T	0.52449	-0.8574	10	0.24483	T	0.36	-33.1421	7.5452	0.27761	0.0:0.3055:0.5391:0.1554	.	309;605	B4DJM7;Q5VV41	.;ARHGG_HUMAN	T	605;317;317;309	ENSP00000367629:A605T;ENSP00000367624:A317T;ENSP00000367622:A317T;ENSP00000408887:A309T	ENSP00000367622:A317T	A	+	1	0	ARHGEF16	3385035	0.825000	0.29262	0.958000	0.39756	0.074000	0.17049	1.289000	0.33307	2.464000	0.83262	0.561000	0.74099	GCG		0.682	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448	Missense_Mutation	10	15	0	0	0	1	0	10	15				
SMU1	55234	broad.mit.edu	37	9	33073796	33073796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33073796C>T	ENST00000397149.3	-	2	85	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	12	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(34-36)cGc>cAc		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							73.0	69.0	70.0					9																	33073796		2203	4300	6503	SO:0001583	missense	55234					cytoplasm|nucleus		g.chr9:33073796C>T	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.35G>A	9.37:g.33073796C>T	ENSP00000380336:p.Arg12His					SMU1_ENST00000536631.1_Intron	p.R12H	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	2	85	-			12			LisH.		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	c.35G>A	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055897	0.76074	.	.	ENSG00000122692	ENST00000397149	T	0.65732	-0.17	5.35	5.35	0.76521	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.93283	3.4	0.80722	D	1	P;P	0.42871	0.792;0.792	B;B	0.37304	0.246;0.246	T	0.81459	-0.0923	10	0.87932	D	0	-16.7506	16.9282	0.86182	0.0:1.0:0.0:0.0	.	12;12	A0MNN4;Q2TAY7	.;SMU1_HUMAN	H	12	ENSP00000380336:R12H	ENSP00000380336:R12H	R	-	2	0	SMU1	33063796	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.598000	0.82745	2.662000	0.90505	0.563000	0.77884	CGC		0.443	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		27	26	0	0	0	1	0	27	26				
ZFHX4	79776	broad.mit.edu	37	8	77766211	77766211	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766211T>A	ENST00000521891.2	+	10	7502	c.7054T>A	c.(7054-7056)Tcc>Acc	p.S2352T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2307T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2326T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2307T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2307	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGAAGACTCCATGGATGC	0.473										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7054-7056)Tcc>Acc		zinc finger homeobox 4							195.0	186.0	189.0					8																	77766211		2046	4193	6239	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766211T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7054T>A	8.37:g.77766211T>A	ENSP00000430497:p.Ser2352Thr	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2326T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2307T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2307T	p.S2352T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7502	+			2307			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7054T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159123	0.57368	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55588	0.51;0.6;0.54;0.56	4.74	4.74	0.60224	.	0.000000	0.44285	U	0.000478	T	0.50171	0.1600	M	0.66939	2.045	0.35166	D	0.771093	B;P;P	0.40794	0.378;0.729;0.512	B;B;B	0.35770	0.073;0.21;0.152	T	0.68096	-0.5499	10	0.54805	T	0.06	.	14.4114	0.67117	0.0:0.0:0.0:1.0	.	2307;2307;2352	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2352;2336;2307;2307;2326	ENSP00000430497:S2352T;ENSP00000399605:S2307T;ENSP00000050961:S2307T;ENSP00000430848:S2326T	ENSP00000050961:S2307T	S	+	1	0	ZFHX4	77928766	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.895000	0.63214	2.002000	0.58637	0.528000	0.53228	TCC		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	130	0	0	0	1	0	13	130				
MTHFSD	64779	broad.mit.edu	37	16	86575410	86575410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86575410C>A	ENST00000360900.6	-	7	599	c.574G>T	c.(574-576)Gag>Tag	p.E192*	MTHFSD_ENST00000381214.5_Nonsense_Mutation_p.E192*|MTHFSD_ENST00000543303.2_Nonsense_Mutation_p.E191*|MTHFSD_ENST00000322911.6_Nonsense_Mutation_p.E191*|MTHFSD_ENST00000546093.1_Nonsense_Mutation_p.E29*	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	192							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCAACAAGCTCTTCAGGGATG	0.587																																						ENST00000322911.6																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(571-573)Gag>Tag		methenyltetrahydrofolate synthetase domain containing							81.0	89.0	86.0					16																	86575410		2113	4240	6353	SO:0001587	stop_gained	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86575410C>A	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.574G>T	16.37:g.86575410C>A	ENSP00000354152:p.Glu192*					MTHFSD_ENST00000546093.1_Nonsense_Mutation_p.E29*|MTHFSD_ENST00000381214.5_Nonsense_Mutation_p.E192*|MTHFSD_ENST00000360900.6_Nonsense_Mutation_p.E192*|MTHFSD_ENST00000543303.2_Nonsense_Mutation_p.E191*	p.E191*	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN			7	621	-			192					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Nonsense_Mutation	SNP	ENST00000360900.6	37	c.571G>T	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981079	0.34942	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911;ENST00000546093	.	.	.	5.47	-0.0358	0.13891	.	0.293814	0.41500	D	0.000880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-21.3216	5.9369	0.19171	0.1222:0.6043:0.0:0.2734	.	.	.	.	X	190;192;192;191;29	.	ENSP00000326777:E191X	E	-	1	0	MTHFSD	85132911	0.687000	0.27671	0.003000	0.11579	0.021000	0.10359	1.815000	0.38981	-0.208000	0.10171	-0.140000	0.14226	GAG		0.587	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		13	26	1	0	1.15088e-07	1	1.35723e-07	13	26				
LZTR1	8216	broad.mit.edu	37	22	21343119	21343119	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21343119G>T	ENST00000215739.8	+	6	910	c.551G>T	c.(550-552)aGt>aTt	p.S184I	LZTR1_ENST00000389355.3_Missense_Mutation_p.S165I|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	184					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGTGTACAGTGACAAGCTG	0.652																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(550-552)aGt>aTt		leucine-zipper-like transcription regulator 1							175.0	134.0	148.0					22																	21343119		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21343119G>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.551G>T	22.37:g.21343119G>T	ENSP00000215739:p.Ser184Ile					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.S165I	p.S184I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		6	910	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	184					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.551G>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982567	0.74474	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67523	-0.27;-0.27	5.87	2.61	0.31194	Kelch-type beta propeller (1);	0.081401	0.85682	D	0.000000	T	0.58963	0.2159	N	0.19112	0.55	0.52099	D	0.999943	P;P;P;D	0.59357	0.873;0.953;0.873;0.985	P;P;P;P	0.54100	0.5;0.637;0.602;0.742	T	0.60321	-0.7286	10	0.72032	D	0.01	-8.4682	7.9722	0.30134	0.2845:0.0:0.7155:0.0	.	165;143;184;143	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	I	143;184;165	ENSP00000215739:S184I;ENSP00000374006:S165I	ENSP00000215739:S184I	S	+	2	0	LZTR1	19673119	0.998000	0.40836	0.998000	0.56505	0.891000	0.51852	1.953000	0.40352	0.753000	0.32945	-0.140000	0.14226	AGT		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		22	60	1	0	3.73808e-20	1	4.90194e-20	22	60				
CROCC	9696	broad.mit.edu	37	1	17266488	17266488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17266488C>A	ENST00000375541.5	+	13	1777	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGGAACAGCTGCAGCGCCT	0.697																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1708-1710)Ctg>Atg		ciliary rootlet coiled-coil, rootletin							31.0	30.0	31.0					1																	17266488		2201	4294	6495	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266488C>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1708C>A	1.37:g.17266488C>A	ENSP00000364691:p.Leu570Met					CROCC_ENST00000467938.1_3'UTR	p.L570M	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1777	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	570						Missense_Mutation	SNP	ENST00000375541.5	37	c.1708C>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.167054	0.57476	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.14391	2.51	4.89	4.89	0.63831	.	.	.	.	.	T	0.35008	0.0917	M	0.74258	2.255	0.35452	D	0.795793	D;D;D	0.76494	0.999;0.999;0.991	D;D;D	0.75484	0.952;0.986;0.919	T	0.38866	-0.9641	9	0.51188	T	0.08	.	11.4163	0.49954	0.1809:0.819:0.0:0.0	.	433;433;570	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	M	570;451	ENSP00000364691:L570M	ENSP00000364691:L570M	L	+	1	2	CROCC	17139075	0.976000	0.34144	1.000000	0.80357	0.972000	0.66771	0.218000	0.17622	2.651000	0.90000	0.561000	0.74099	CTG		0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	29	1	0	0.184627	1	0.186383	4	29				
ZNF585A	199704	broad.mit.edu	37	19	37644027	37644027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37644027C>T	ENST00000356958.4	-	5	1032	c.774G>A	c.(772-774)aaG>aaA	p.K258K	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.K203K|ZNF585A_ENST00000292841.5_Silent_p.K203K|ZNF585A_ENST00000392157.2_Silent_p.K203K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGATGCATCTTGAGTGTGG	0.428																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(772-774)aaG>aaA		zinc finger protein 585A							171.0	169.0	170.0					19																	37644027		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644027C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.774G>A	19.37:g.37644027C>T						ZNF585A_ENST00000292841.5_Silent_p.K203K|ZNF585A_ENST00000392157.2_Silent_p.K203K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.K203K	p.K258K			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1032	-			258					Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.774G>A																																																																																					0.428	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		63	83	0	0	0	1	0	63	83				
RXFP2	122042	broad.mit.edu	37	13	32348793	32348793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32348793G>T	ENST00000298386.2	+	6	605	c.534G>T	c.(532-534)agG>agT	p.R178S	RXFP2_ENST00000380314.1_Missense_Mutation_p.R178S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	178					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACATATCCAGGAAAGCATTTT	0.318																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(532-534)agG>agT		relaxin/insulin-like family peptide receptor 2							154.0	153.0	153.0					13																	32348793		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32348793G>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.534G>T	13.37:g.32348793G>T	ENSP00000298386:p.Arg178Ser					RXFP2_ENST00000380314.1_Missense_Mutation_p.R178S	p.R178S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	6	605	+		Lung SC(185;0.0262)	178					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.534G>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	7.351	0.622833	0.14193	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.04194	4.35;3.68	5.56	3.78	0.43462	.	0.384533	0.33272	N	0.005085	T	0.02649	0.0080	N	0.12422	0.21	0.30879	N	0.731593	B;B	0.16802	0.019;0.019	B;B	0.19666	0.026;0.016	T	0.33317	-0.9873	10	0.09084	T	0.74	.	8.6577	0.34073	0.0838:0.1557:0.7605:0.0	.	178;178	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	S	178	ENSP00000369670:R178S;ENSP00000298386:R178S	ENSP00000298386:R178S	R	+	3	2	RXFP2	31246793	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.998000	0.29744	1.325000	0.45301	0.650000	0.86243	AGG		0.318	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		7	87	1	0	8.12818e-05	1	8.99451e-05	7	87				
PPFIBP2	8495	broad.mit.edu	37	11	7673050	7673050	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7673050C>A	ENST00000299492.4	+	23	2799	c.2411C>A	c.(2410-2412)cCa>cAa	p.P804Q	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P692Q|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P646Q|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P661Q	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	804					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTTACACACCACTGACCACC	0.612																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2410-2412)cCa>cAa		PTPRF interacting protein, binding protein 2 (liprin beta 2)							115.0	115.0	115.0					11																	7673050		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7673050C>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2411C>A	11.37:g.7673050C>A	ENSP00000299492:p.Pro804Gln					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P661Q|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P646Q|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P692Q	p.P804Q	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2799	+			804					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2411C>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117461	0.77323	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.36340	1.69;1.27;1.67;1.26	5.77	5.77	0.91146	.	0.078622	0.53938	D	0.000047	T	0.60856	0.2301	M	0.76574	2.34	0.58432	D	0.999999	D;P;D;P;P;D	0.71674	0.998;0.955;0.998;0.955;0.955;0.998	D;P;D;P;P;P	0.71184	0.916;0.691;0.972;0.572;0.691;0.867	T	0.57370	-0.7823	10	0.42905	T	0.14	-9.5207	17.8364	0.88699	0.0:1.0:0.0:0.0	.	692;692;727;646;661;804	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	Q	804;145;646;727;692;661	ENSP00000299492:P804Q;ENSP00000436498:P646Q;ENSP00000435469:P692Q;ENSP00000437321:P661Q	ENSP00000299492:P804Q	P	+	2	0	PPFIBP2	7629626	1.000000	0.71417	0.986000	0.45419	0.930000	0.56654	6.010000	0.70753	2.884000	0.98904	0.655000	0.94253	CCA		0.612	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		13	32	1	0	0.000219431	1	0.000240782	13	32				
MCHR1	2847	broad.mit.edu	37	22	41077577	41077577	+	Missense_Mutation	SNP	C	C	T	rs550313335		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077577C>T	ENST00000249016.4	+	2	1610	c.914C>T	c.(913-915)aCg>aTg	p.T305M	MCHR1_ENST00000381433.2_Missense_Mutation_p.T179M|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	305			T -> M. {ECO:0000269|PubMed:15941924}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCGCATGACGTCCTCAGTG	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21341	0.0		0.0	False		,,,				2504	0.0					ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(913-915)aCg>aTg		melanin-concentrating hormone receptor 1							108.0	79.0	89.0					22																	41077577		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077577C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.914C>T	22.37:g.41077577C>T	ENSP00000249016:p.Thr305Met					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.T179M	p.T305M	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1610	+			305		T -> M.			B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.914C>T	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133245	0.56828	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.37058	1.22;1.22	5.24	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.155706	0.64402	N	0.000011	T	0.22820	0.0551	N	0.14661	0.345	0.30403	N	0.779821	B	0.22909	0.077	B	0.21708	0.036	T	0.16958	-1.0385	10	0.62326	D	0.03	.	11.1589	0.48503	0.0:0.9055:0.0:0.0945	.	305	Q99705	MCHR1_HUMAN	M	305;179	ENSP00000249016:T305M;ENSP00000370841:T179M	ENSP00000249016:T305M	T	+	2	0	MCHR1	39407523	0.913000	0.31002	0.865000	0.33974	0.982000	0.71751	2.534000	0.45676	1.276000	0.44395	0.655000	0.94253	ACG		0.597	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		20	31	0	0	0	1	0	20	31				
PKP2	5318	broad.mit.edu	37	12	33031425	33031425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33031425T>C	ENST00000070846.6	-	3	413	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	PKP2_ENST00000340811.4_Missense_Mutation_p.Y130C	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	130					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGGAGCTGTACTGTGCTGT	0.512																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(388-390)tAc>tGc		plakophilin 2							180.0	184.0	183.0					12																	33031425		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031425T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.389A>G	12.37:g.33031425T>C	ENSP00000070846:p.Tyr130Cys					PKP2_ENST00000070846.6_Missense_Mutation_p.Y130C	p.Y130C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	497	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		130					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.389A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090370	0.55968	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.85556	-2.0;-1.96	4.87	3.71	0.42584	.	1.222030	0.05871	N	0.624592	D	0.90762	0.7100	L	0.56769	1.78	0.29569	N	0.850062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.956;0.956	T	0.76774	-0.2835	10	0.59425	D	0.04	-18.7993	9.6465	0.39870	0.0:0.0:0.1758:0.8242	.	130;130;130	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	C	130	ENSP00000342800:Y130C;ENSP00000070846:Y130C	ENSP00000070846:Y130C	Y	-	2	0	PKP2	32922692	1.000000	0.71417	0.993000	0.49108	0.854000	0.48673	3.893000	0.56243	0.686000	0.31488	0.529000	0.55759	TAC		0.512	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		17	278	0	0	0	1	0	17	278				
TSIX	9383	broad.mit.edu	37	X	73042564	73042564	+	lincRNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73042564G>A	ENST00000604411.1	+	0	30525				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCTTTTGGAGCAGATATATT	0.343																																						ENST00000604411.1																			0																				24.0	26.0	25.0					X																	73042564		875	1990	2865			0							g.chrX:73042564G>A			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042564G>A						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	30525	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.343	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		5	19	0	0	0	1	0	5	19				
ERO1LB	56605	broad.mit.edu	37	1	236389961	236389961	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236389961T>G	ENST00000354619.5	-	11	992	c.791A>C	c.(790-792)aAt>aCt	p.N264T		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	264					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CAAAAGATAATTTGCGCATAG	0.299																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(790-792)aAt>aCt		ERO1-like beta (S. cerevisiae)							71.0	75.0	74.0					1																	236389961		2199	4298	6497	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236389961T>G	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.791A>C	1.37:g.236389961T>G	ENSP00000346635:p.Asn264Thr						p.N264T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		11	992	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	264					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.791A>C	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566048	0.45694	.	.	ENSG00000086619	ENST00000354619	T	0.42900	0.96	5.62	5.62	0.85841	.	0.264479	0.43416	D	0.000561	T	0.34395	0.0896	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.16722	0.016	T	0.09751	-1.0660	10	0.56958	D	0.05	-33.1926	15.8808	0.79205	0.0:0.0:0.0:1.0	.	264	Q86YB8	ERO1B_HUMAN	T	264	ENSP00000346635:N264T	ENSP00000346635:N264T	N	-	2	0	ERO1LB	234456584	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.922000	0.56462	2.147000	0.66899	0.472000	0.43445	AAT		0.299	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		41	65	0	0	0	1	0	41	65				
SOD2	6648	broad.mit.edu	37	6	160113695	160113695	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160113695T>G	ENST00000546087.1	-	4	1913	c.86A>C	c.(85-87)aAg>aCg	p.K29T	SOD2_ENST00000452684.2_Missense_Mutation_p.K75T|SOD2_ENST00000367054.2_Missense_Mutation_p.K75T|SOD2_ENST00000538183.2_Missense_Mutation_p.K75T|SOD2_ENST00000337404.4_Missense_Mutation_p.K75T|SOD2_ENST00000367055.4_Missense_Mutation_p.K75T|SOD2_ENST00000444946.2_Missense_Mutation_p.K75T			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	75					age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GAACCTACCCTTGGCCAACGC	0.652																																						ENST00000538183.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14						c.(223-225)aAg>aCg		superoxide dismutase 2, mitochondrial							85.0	78.0	80.0					6																	160113695		2203	4300	6503	SO:0001583	missense	6648				age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	g.chr6:160113695T>G	M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.86A>C	6.37:g.160113695T>G	ENSP00000442920:p.Lys29Thr					SOD2_ENST00000452684.2_Missense_Mutation_p.K75T|SOD2_ENST00000367055.4_Missense_Mutation_p.K75T|SOD2_ENST00000337404.4_Missense_Mutation_p.K75T|SOD2_ENST00000546087.1_Missense_Mutation_p.K29T|SOD2_ENST00000444946.2_Missense_Mutation_p.K75T|SOD2_ENST00000367054.2_Missense_Mutation_p.K75T	p.K75T	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)	2	384	-		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)	75					B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Missense_Mutation	SNP	ENST00000546087.1	37	c.224A>C		.	.	.	.	.	.	.	.	.	.	T	29.6	5.024009	0.93462	.	.	ENSG00000112096	ENST00000367055;ENST00000538183;ENST00000367054;ENST00000546087;ENST00000444946;ENST00000337404;ENST00000545162;ENST00000535561;ENST00000537657;ENST00000401980;ENST00000452684	T;T;T;T;T;T;T;T;T;T;T	0.40476	1.93;1.93;1.03;1.93;1.93;1.03;1.93;1.93;1.93;1.03;1.93	4.77	4.77	0.60923	Manganese/iron superoxide dismutase, N-terminal (2);	0.094886	0.64402	D	0.000001	T	0.48768	0.1518	M	0.62154	1.92	0.80722	D	1	D;D;B;B;P	0.89917	0.988;1.0;0.015;0.0;0.454	P;D;B;B;P	0.80764	0.836;0.994;0.168;0.002;0.758	T	0.42783	-0.9431	10	0.22109	T	0.4	-15.1043	14.6468	0.68767	0.0:0.0:0.0:1.0	.	75;75;71;75;75	B4E3K9;G5E9P6;Q7Z7M4;B4DL20;P04179	.;.;.;.;SODM_HUMAN	T	75;75;75;29;75;75;98;98;29;29;75	ENSP00000356022:K75T;ENSP00000446252:K75T;ENSP00000356021:K75T;ENSP00000442920:K29T;ENSP00000404804:K75T;ENSP00000337127:K75T;ENSP00000441362:K98T;ENSP00000445015:K98T;ENSP00000439191:K29T;ENSP00000384196:K29T;ENSP00000406713:K75T	ENSP00000337127:K75T	K	-	2	0	SOD2	160033685	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	5.921000	0.70028	1.913000	0.55393	0.467000	0.42956	AAG		0.652	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636		6	36	0	0	0	1	0	6	36				
ADCY9	115	broad.mit.edu	37	16	4029188	4029188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029188C>T	ENST00000294016.3	-	8	3146	c.2608G>A	c.(2608-2610)Gcc>Acc	p.A870T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	870					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCAGGATGGCCCCGATGCAG	0.582																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2608-2610)Gcc>Acc		adenylate cyclase 9							112.0	105.0	107.0					16																	4029188		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4029188C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2608G>A	16.37:g.4029188C>T	ENSP00000294016:p.Ala870Thr						p.A870T	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			8	3146	-			870					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2608G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788864	0.90367	.	.	ENSG00000162104	ENST00000294016	D	0.84070	-1.8	5.59	5.59	0.84812	.	0.107150	0.64402	D	0.000005	T	0.73799	0.3633	L	0.35854	1.095	0.53005	D	0.999969	B	0.32653	0.379	B	0.23716	0.048	T	0.73594	-0.3933	10	0.45353	T	0.12	.	12.8792	0.58008	0.0:0.9257:0.0:0.0743	.	870	O60503	ADCY9_HUMAN	T	870	ENSP00000294016:A870T	ENSP00000294016:A870T	A	-	1	0	ADCY9	3969189	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.742000	0.68646	2.617000	0.88574	0.655000	0.94253	GCC		0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			19	35	0	0	0	1	0	19	35				
BPIFB4	149954	broad.mit.edu	37	20	31695611	31695611	+	Silent	SNP	C	C	T	rs150261493		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31695611C>T	ENST00000375483.3	+	15	1806	c.1806C>T	c.(1804-1806)gaC>gaT	p.D602D	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	602						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCAATGCAGACATTGACGTGT	0.493																																						ENST00000375483.3																			0											c.(1804-1806)gaC>gaT		BPI fold containing family B, member 4		C		0,4406		0,0,2203	165.0	123.0	137.0		1806	0.9	1.0	20	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BPIFB4	NM_182519.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		602/615	31695611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31695611C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1806C>T	20.37:g.31695611C>T						BPIFB4_ENST00000494121.1_3'UTR	p.D602D	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			15	1806	+			602					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.1806C>T	CCDS13213.2																																																																																				0.493	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		18	24	0	0	0	1	0	18	24				
WNK1	65125	broad.mit.edu	37	12	960934	960934	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:960934G>A	ENST00000315939.6	+	5	1954				WNK1_ENST00000340908.4_Missense_Mutation_p.D26N|WNK1_ENST00000540360.1_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCTCAAAAGGATTGTATAAA	0.308																																					Colon(19;451 567 6672 12618 28860)	ENST00000340908.4																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(76-78)Gat>Aat		WNK lysine deficient protein kinase 1							24.0	24.0	24.0					12																	960934		876	1990	2866	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:960934G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1312-5393G>A	12.37:g.960934G>A						WNK1_ENST00000540360.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron	p.D26N			Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	76	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		0					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.76G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887384	0.52014	.	.	ENSG00000060237	ENST00000340908	T	0.50001	0.76	5.52	4.62	0.57501	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.25922	N	0.983109	.	.	.	.	.	.	T	0.52313	-0.8592	6	0.87932	D	0	.	14.1081	0.65104	0.0725:0.0:0.9275:0.0	.	.	.	.	N	26	ENSP00000341292:D26N	ENSP00000341292:D26N	D	+	1	0	WNK1	831195	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	5.025000	0.64097	2.755000	0.94549	0.591000	0.81541	GAT		0.308	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	12	0	0	0	1	0	7	12				
USP6NL	9712	broad.mit.edu	37	10	11505270	11505270	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11505270T>C	ENST00000609104.1	-	15	2051	c.1657A>G	c.(1657-1659)Aac>Gac	p.N553D	USP6NL_ENST00000277575.5_Missense_Mutation_p.N570D|USP6NL_ENST00000379237.2_Missense_Mutation_p.N576D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	553					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGCACGTTGTCGTACTGC	0.667																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1657-1659)Aac>Gac		USP6 N-terminal like							54.0	57.0	56.0					10																	11505270		2079	4196	6275	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505270T>C	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1657A>G	10.37:g.11505270T>C	ENSP00000476462:p.Asn553Asp					USP6NL_ENST00000277575.5_Missense_Mutation_p.N570D	p.N553D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	2051	-			553					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1657A>G	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691129	0.88735	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.10763	2.84;2.86	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.02539	-1.1144	10	0.59425	D	0.04	.	16.3426	0.83092	0.0:0.0:0.0:1.0	.	553;570	Q92738;Q92738-2	US6NL_HUMAN;.	D	553;570;553	ENSP00000277575:N570D;ENSP00000368539:N553D	ENSP00000277575:N570D	N	-	1	0	USP6NL	11545276	1.000000	0.71417	0.237000	0.24090	0.519000	0.34347	7.362000	0.79507	2.263000	0.75096	0.379000	0.24179	AAC		0.667	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		33	44	0	0	0	1	0	33	44				
TMEM198	130612	broad.mit.edu	37	2	220412624	220412624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220412624C>T	ENST00000344458.2	+	4	1148	c.563C>T	c.(562-564)gCt>gTt	p.A188V	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A188V|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	188	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCACTGCCGCTGACTACTTC	0.711																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(562-564)gCt>gTt		transmembrane protein 198							12.0	11.0	11.0					2																	220412624		2192	4291	6483	SO:0001583	missense	130612					integral to membrane		g.chr2:220412624C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.563C>T	2.37:g.220412624C>T	ENSP00000343507:p.Ala188Val					TMEM198_ENST00000373883.3_Missense_Mutation_p.A188V	p.A188V			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1148	+		Renal(207;0.0376)	188			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.563C>T	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990961	0.18966	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.97	3.97	0.46021	.	0.346611	0.29459	N	0.012100	T	0.11367	0.0277	N	0.01048	-1.04	0.09310	N	1	B	0.18013	0.025	B	0.18561	0.022	T	0.20107	-1.0285	9	0.08179	T	0.78	-11.3915	11.2875	0.49230	0.0:0.906:0.0:0.094	.	188	Q66K66	TM198_HUMAN	V	188	.	ENSP00000343507:A188V	A	+	2	0	TMEM198	220120868	0.018000	0.18449	0.549000	0.28204	0.983000	0.72400	0.522000	0.22909	2.219000	0.72066	0.591000	0.81541	GCT		0.711	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		4	6	0	0	0	1	0	4	6				
MAP1B	4131	broad.mit.edu	37	5	71494288	71494288	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71494288G>T	ENST00000296755.7	+	5	5404	c.5106G>T	c.(5104-5106)aaG>aaT	p.K1702N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1702					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATCACATAAGATACCACCTA	0.507																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5104-5106)aaG>aaT		microtubule-associated protein 1B							95.0	90.0	92.0					5																	71494288		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494288G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5106G>T	5.37:g.71494288G>T	ENSP00000296755:p.Lys1702Asn						p.K1702N	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5404	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1702					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5106G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490138	0.26686	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.0	5.0	0.66597	.	0.091161	0.47852	D	0.000215	T	0.07098	0.0180	N	0.12182	0.205	0.46185	D	0.998914	D;D	0.71674	0.998;0.965	D;P	0.76071	0.987;0.521	T	0.47129	-0.9141	10	0.51188	T	0.08	-23.5279	11.3625	0.49651	0.0847:0.0:0.9153:0.0	.	1576;1702	A2BDK6;P46821	.;MAP1B_HUMAN	N	1702	ENSP00000296755:K1702N	ENSP00000296755:K1702N	K	+	3	2	MAP1B	71530044	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.173000	0.65010	2.491000	0.84063	0.448000	0.29417	AAG		0.507	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		19	44	1	0	6.49762e-13	1	8.19883e-13	19	44				
CAPZA2	830	broad.mit.edu	37	7	116533072	116533072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116533072A>G	ENST00000361183.3	+	3	267	c.128A>G	c.(127-129)gAc>gGc	p.D43G	CAPZA2_ENST00000490693.1_Missense_Mutation_p.D43G|CAPZA2_ENST00000458284.2_Missense_Mutation_p.D43G	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	43					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CTTAATAATGACAATCTTCTC	0.338																																						ENST00000361183.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(127-129)gAc>gGc		capping protein (actin filament) muscle Z-line, alpha 2							86.0	82.0	83.0					7																	116533072		2203	4300	6503	SO:0001583	missense	830				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	g.chr7:116533072A>G		CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.128A>G	7.37:g.116533072A>G	ENSP00000354947:p.Asp43Gly					CAPZA2_ENST00000458284.2_Missense_Mutation_p.D43G|CAPZA2_ENST00000490693.1_Missense_Mutation_p.D43G	p.D43G	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		3	267	+	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		43					B4DG50	Missense_Mutation	SNP	ENST00000361183.3	37	c.128A>G	CCDS5768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.443289|4.443289	0.83993|0.83993	.|.	.|.	ENSG00000198898|ENSG00000198898	ENST00000361183;ENST00000458284;ENST00000490693|ENST00000464223;ENST00000484325	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.216684|.	0.46442|.	D|.	0.000298|.	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.63208|0.63208	1.945|1.945	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.71674|.	0.998|.	D|.	0.77004|.	0.989|.	T|T	0.75054|0.75054	-0.3453|-0.3453	9|6	0.87932|0.87932	D|D	0|0	7.0E-4|7.0E-4	13.4884|13.4884	0.61379|0.61379	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	43|.	P47755|.	CAZA2_HUMAN|.	G|A	43|21	.|.	ENSP00000354947:D43G|ENSP00000420640:T21A	D|T	+|+	2|1	0|0	CAPZA2|CAPZA2	116320308|116320308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.015000|7.015000	0.76387|0.76387	2.055000|2.055000	0.61198|0.61198	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.338	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		5	57	0	0	0	1	0	5	57				
USP34	9736	broad.mit.edu	37	2	61508367	61508367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61508367C>T	ENST00000398571.2	-	38	5085	c.5009G>A	c.(5008-5010)cGt>cAt	p.R1670H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1670					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATTCATGACGAACTGCAGT	0.368																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5008-5010)cGt>cAt		ubiquitin specific peptidase 34							71.0	65.0	67.0					2																	61508367		1882	4109	5991	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61508367C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5009G>A	2.37:g.61508367C>T	ENSP00000381577:p.Arg1670His						p.R1670H	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		38	5085	-			1670					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5009G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063718	0.93898	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.14893	2.47	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.55990	1.75	0.58432	D	0.999999	D	0.71674	0.998	D	0.67103	0.949	T	0.15578	-1.0432	10	0.87932	D	0	.	18.5883	0.91199	0.0:1.0:0.0:0.0	.	1670	Q70CQ2	UBP34_HUMAN	H	1518;1518;1670	ENSP00000381577:R1670H	ENSP00000263989:R1518H	R	-	2	0	USP34	61361871	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.607000	0.82883	2.390000	0.81377	0.460000	0.39030	CGT		0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			14	25	0	0	0	1	0	14	25				
VAC14	55697	broad.mit.edu	37	16	70765433	70765433	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70765433C>A	ENST00000261776.5	-	14	1886	c.1626G>T	c.(1624-1626)cgG>cgT	p.R542R		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	542					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.R542R(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGGAGCTTCCGTTCGCTGC	0.507																																						ENST00000261776.5																			1	Substitution - coding silent(1)	p.R542R(1)	lung(1)	breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1624-1626)cgG>cgT		Vac14 homolog (S. cerevisiae)							118.0	121.0	120.0					16																	70765433		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70765433C>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1626G>T	16.37:g.70765433C>A							p.R542R	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			14	1886	-		Ovarian(137;0.0699)	542					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.1626G>T	CCDS10896.1																																																																																				0.507	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		6	118	1	0	0.00198382	1	0.00210581	6	118				
RALGAPA1	253959	broad.mit.edu	37	14	36219826	36219826	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36219826G>T	ENST00000389698.3	-	9	1263	c.873C>A	c.(871-873)atC>atA	p.I291I	RALGAPA1_ENST00000382366.3_Silent_p.I291I|RALGAPA1_ENST00000307138.6_Silent_p.I291I|RALGAPA1_ENST00000258840.6_Silent_p.I291I|RALGAPA1_ENST00000554704.1_5'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	291					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTACAATAGATTGCTTCAT	0.413																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(871-873)atC>atA		Ral GTPase activating protein, alpha subunit 1 (catalytic)							88.0	77.0	80.0					14																	36219826		2203	4300	6503	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36219826G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.873C>A	14.37:g.36219826G>T						RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Silent_p.I291I|RALGAPA1_ENST00000382366.3_Silent_p.I291I|RALGAPA1_ENST00000307138.6_Silent_p.I291I	p.I291I			Q6GYQ0	RGPA1_HUMAN			9	1263	-			291					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.873C>A	CCDS32065.1																																																																																				0.413	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		16	40	1	0	0.000422831	1	0.000460248	16	40				
AGAP2	116986	broad.mit.edu	37	12	58126751	58126751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58126751C>T	ENST00000547588.1	-	6	1560	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	AGAP2_ENST00000257897.3_Missense_Mutation_p.A185T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	521	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGAGGAAGCACTGATCCTG	0.552																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(553-555)Gct>Act		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							157.0	153.0	154.0					12																	58126751		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58126751C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1561G>A	12.37:g.58126751C>T	ENSP00000449241:p.Ala521Thr					AGAP2_ENST00000547588.1_Missense_Mutation_p.A521T	p.A185T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			6	638	-			521			Interactions with HOMER1 and NF2 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.553G>A	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.90|17.90	3.501972|3.501972	0.64298|0.64298	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.52754|.	0.65;0.65|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	0.129397|.	0.51477|.	D|.	0.000094|.	T|T	0.57651|0.57651	0.2068|0.2068	L|L	0.31926|0.31926	0.97|0.97	0.44194|0.44194	D|D	0.997013|0.997013	P;P;P|.	0.45902|.	0.868;0.654;0.726|.	B;B;B|.	0.42522|.	0.271;0.39;0.297|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.48119|.	T|.	0.1|.	.|.	16.854|16.854	0.86001|0.86001	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	185;521;521|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	T|Y	185;521|384	ENSP00000257897:A185T;ENSP00000449241:A521T|.	ENSP00000257897:A185T|.	A|C	-|-	1|2	0|0	AGAP2|AGAP2	56413018|56413018	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.144000|1.144000	0.31565|0.31565	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.552	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		82	154	0	0	0	1	0	82	154				
CTNND2	1501	broad.mit.edu	37	5	11364911	11364911	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11364911G>T	ENST00000304623.8	-	8	1458	c.1269C>A	c.(1267-1269)atC>atA	p.I423I	CTNND2_ENST00000359640.2_Silent_p.I423I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.I86I|CTNND2_ENST00000511377.1_Silent_p.I332I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	423					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCTTCATAGATGGGATCTA	0.612																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1267-1269)atC>atA		catenin (cadherin-associated protein), delta 2							54.0	58.0	56.0					5																	11364911		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364911G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1269C>A	5.37:g.11364911G>T						CTNND2_ENST00000511377.1_Silent_p.I332I|CTNND2_ENST00000503622.1_Silent_p.I86I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I423I|CTNND2_ENST00000458100.2_5'UTR	p.I423I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1458	-			423					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1269C>A	CCDS3881.1																																																																																				0.612	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	43	1	0	8.12818e-05	1	8.99451e-05	7	43				
ADAMTS12	81792	broad.mit.edu	37	5	33549430	33549430	+	Missense_Mutation	SNP	C	C	T	rs147732973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33549430C>T	ENST00000504830.1	-	21	4519	c.4184G>A	c.(4183-4185)cGg>cAg	p.R1395Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1310Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1395	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGTGGTCCCGGCTGTCCAC	0.572										HNSCC(64;0.19)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		18802	0.0		0.0	False		,,,				2504	0.0					ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4183-4185)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 12		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	93.0	91.0		4184	2.8	1.0	5	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ADAMTS12	NM_030955.2	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	1395/1595	33549430	3,13003	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549430C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4184G>A	5.37:g.33549430C>T	ENSP00000422554:p.Arg1395Gln	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1310Q	p.R1395Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			21	4519	-			1395			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4184G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385113	0.42308	2.27E-4	2.33E-4	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60797	0.16;0.16	5.02	2.76	0.32466	.	0.371785	0.29159	N	0.012973	T	0.35828	0.0945	N	0.21282	0.65	0.80722	D	1	P;B	0.46656	0.882;0.016	B;B	0.39904	0.313;0.004	T	0.07214	-1.0784	10	0.16420	T	0.52	.	7.6447	0.28312	0.173:0.7235:0.0:0.1034	.	1310;1395	P58397-3;P58397	.;ATS12_HUMAN	Q	1395;1310	ENSP00000422554:R1395Q;ENSP00000344847:R1310Q	ENSP00000344847:R1310Q	R	-	2	0	ADAMTS12	33585187	0.241000	0.23857	0.980000	0.43619	0.991000	0.79684	0.008000	0.13197	1.026000	0.39733	0.650000	0.86243	CGG		0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	75	0	0	0	1	0	6	75				
WDR36	134430	broad.mit.edu	37	5	110441018	110441018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110441018T>G	ENST00000513710.2	+	10	1224	c.1220T>G	c.(1219-1221)tTt>tGt	p.F407C	WDR36_ENST00000506538.2_Missense_Mutation_p.F407C|WDR36_ENST00000505303.1_Missense_Mutation_p.F351C			Q8NI36	WDR36_HUMAN	WD repeat domain 36	407					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCAGTCATTTTCCACGGTA	0.348																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1219-1221)tTt>tGt		WD repeat domain 36							95.0	93.0	94.0					5																	110441018		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110441018T>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1220T>G	5.37:g.110441018T>G	ENSP00000424628:p.Phe407Cys					WDR36_ENST00000505303.1_Missense_Mutation_p.F351C|WDR36_ENST00000513710.2_Missense_Mutation_p.F407C	p.F407C	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	10	1793	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	407					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1220T>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322575	0.81580	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	D;D;T	0.81659	-1.52;-1.52;-0.61	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.101183	0.64402	D	0.000001	D	0.91788	0.7402	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93524	0.6864	10	0.87932	D	0	-26.113	16.0129	0.80417	0.0:0.0:0.0:1.0	.	407	Q8NI36	WDR36_HUMAN	C	407;407;351	ENSP00000423067:F407C;ENSP00000424628:F407C;ENSP00000422158:F351C	ENSP00000422158:F351C	F	+	2	0	WDR36	110468917	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.499000	0.81566	2.184000	0.69523	0.482000	0.46254	TTT		0.348	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		8	82	0	0	0	1	0	8	82				
ITGB1	3688	broad.mit.edu	37	10	33200467	33200467	+	Missense_Mutation	SNP	C	C	T	rs140200196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33200467C>T	ENST00000396033.2	-	13	1975	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	ITGB1_ENST00000423113.1_Missense_Mutation_p.E614K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E614K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E614K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	614	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ACACCACACTCGCAGATGCCC	0.498																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1840-1842)Gag>Aag		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							118.0	113.0	115.0					10																	33200467		2203	4297	6500	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200467C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1840G>A	10.37:g.33200467C>T	ENSP00000379350:p.Glu614Lys					ITGB1_ENST00000302278.3_Missense_Mutation_p.E614K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E614K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E614K	p.E614K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			13	1975	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	614			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1840G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175450	0.78564	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.53	5.53	0.82687	EGF, extracellular (1);	0.147080	0.64402	D	0.000011	D	0.93141	0.7816	M	0.63428	1.95	0.80722	D	1	P;P;P;P;P	0.51653	0.878;0.831;0.875;0.759;0.947	B;B;P;B;P	0.51487	0.425;0.432;0.671;0.108;0.607	D	0.90423	0.4418	10	0.17832	T	0.49	.	19.808	0.96537	0.0:1.0:0.0:0.0	.	614;614;614;614;614	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	K	614	ENSP00000379350:E614K;ENSP00000388694:E614K;ENSP00000303351:E614K;ENSP00000364094:E614K	ENSP00000303351:E614K	E	-	1	0	ITGB1	33240473	1.000000	0.71417	0.965000	0.40720	0.906000	0.53458	5.936000	0.70153	2.762000	0.94881	0.655000	0.94253	GAG		0.498	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		28	59	0	0	0	1	0	28	59				
FRY	10129	broad.mit.edu	37	13	32698752	32698752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32698752C>A	ENST00000380250.3	+	6	1065	c.569C>A	c.(568-570)cCt>cAt	p.P190H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	190						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTTCATCCTGTAATAGAC	0.313																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(568-570)cCt>cAt		furry homolog (Drosophila)							60.0	55.0	56.0					13																	32698752		1817	4079	5896	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698752C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.569C>A	13.37:g.32698752C>A	ENSP00000369600:p.Pro190His						p.P190H	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	6	1065	+		Lung SC(185;0.0271)	190					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.569C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567630	0.86439	.	.	ENSG00000073910	ENST00000380250	T	0.25250	1.81	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.65821	-0.6075	10	0.72032	D	0.01	.	19.2951	0.94118	0.0:1.0:0.0:0.0	.	190	Q5TBA9	FRY_HUMAN	H	190	ENSP00000369600:P190H	ENSP00000369600:P190H	P	+	2	0	FRY	31596752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.574000	0.86865	0.561000	0.74099	CCT		0.313	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		7	19	1	0	0.0381472	1	0.0390147	7	19				
FER1L6	654463	broad.mit.edu	37	8	125131098	125131098	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125131098C>T	ENST00000522917.1	+	40	5509	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	FER1L6_ENST00000399018.1_Missense_Mutation_p.A1768V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1768						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGTTGAAGCTGAGTTCCAC	0.488																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5302-5304)gCt>gTt		fer-1-like 6 (C. elegans)							66.0	64.0	65.0					8																	125131098		1865	4106	5971	SO:0001583	missense	654463					integral to membrane		g.chr8:125131098C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5303C>T	8.37:g.125131098C>T	ENSP00000428280:p.Ala1768Val					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A1768V	p.A1768V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		40	5509	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1768						Missense_Mutation	SNP	ENST00000522917.1	37	c.5303C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307476	0.95629	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82167	-1.58;-1.58	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.88584	0.6476	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82820	-0.0268	10	0.02654	T	1	-18.7627	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1768	Q2WGJ9	FR1L6_HUMAN	V	1768	ENSP00000428280:A1768V;ENSP00000381982:A1768V	ENSP00000381982:A1768V	A	+	2	0	FER1L6	125200279	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.776000	0.85560	2.683000	0.91414	0.563000	0.77884	GCT		0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		4	19	0	0	0	1	0	4	19				
EXOC8	149371	broad.mit.edu	37	1	231472244	231472244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472244C>T	ENST00000360394.2	-	1	1334	c.1248G>A	c.(1246-1248)tcG>tcA	p.S416S	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Silent_p.S412S|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	416					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGATCAGTTGCGAAACTGCTC	0.552																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(1234-1236)tcG>tcA		exocyst complex component 8							57.0	56.0	56.0					1																	231472244		2203	4300	6503	SO:0001819	synonymous_variant	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472244C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1248G>A	1.37:g.231472244C>T						EXOC8_ENST00000360394.2_Silent_p.S416S	p.S412S			Q8IYI6	EXOC8_HUMAN			1	1354	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	416					B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	c.1236G>A	CCDS1593.1																																																																																				0.552	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		7	53	0	0	0	1	0	7	53				
ING5	84289	broad.mit.edu	37	2	242662453	242662453	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242662453C>A	ENST00000313552.6	+	6	608	c.582C>A	c.(580-582)gtC>gtA	p.V194V	ING5_ENST00000406941.1_Silent_p.V194V|AC114730.11_ENST00000435195.1_RNA	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	194					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCCACCAGGTCTCCTATGGGG	0.612																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(580-582)gtC>gtA		inhibitor of growth family, member 5							130.0	102.0	112.0					2																	242662453		2203	4296	6499	SO:0001819	synonymous_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242662453C>A	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.582C>A	2.37:g.242662453C>A						ING5_ENST00000406941.1_Silent_p.V194V	p.V194V	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	6	608	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	194					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Silent	SNP	ENST00000313552.6	37	c.582C>A	CCDS33425.1																																																																																				0.612	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		7	47	1	0	8.12818e-05	1	8.99451e-05	7	47				
RECQL5	9400	broad.mit.edu	37	17	73658586	73658586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73658586C>A	ENST00000317905.5	-	4	903	c.744G>T	c.(742-744)aaG>aaT	p.K248N	RECQL5_ENST00000584999.1_Missense_Mutation_p.K248N|RECQL5_ENST00000420326.2_Missense_Mutation_p.K248N|RECQL5_ENST00000340830.5_Missense_Mutation_p.K248N|RECQL5_ENST00000423245.2_Missense_Mutation_p.K221N	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	248	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCCAAGAGCCTTAAGGCAGA	0.512								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(742-744)aaG>aaT	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							232.0	238.0	236.0					17																	73658586		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73658586C>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.744G>T	17.37:g.73658586C>A	ENSP00000317636:p.Lys248Asn					RECQL5_ENST00000423245.2_Missense_Mutation_p.K221N|RECQL5_ENST00000340830.5_Missense_Mutation_p.K248N|RECQL5_ENST00000584999.1_Missense_Mutation_p.K248N|RECQL5_ENST00000317905.5_Missense_Mutation_p.K248N	p.K248N	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	903	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		248			Helicase C-terminal.		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.744G>T	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.784121	0.31593	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.04758	3.56;3.56;3.56	5.51	3.53	0.40419	Helicase, C-terminal (1);	0.152280	0.64402	D	0.000014	T	0.03136	0.0092	N	0.20685	0.6	0.58432	D	0.999999	B;P;B	0.36392	0.353;0.551;0.016	B;B;B	0.32762	0.106;0.152;0.028	T	0.58278	-0.7664	10	0.32370	T	0.25	-28.9523	8.5549	0.33476	0.0:0.7349:0.1264:0.1387	.	248;221;248	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	N	248	ENSP00000317636:K248N;ENSP00000414933:K248N;ENSP00000341983:K248N	ENSP00000317636:K248N	K	-	3	2	RECQL5	71170181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.059000	0.30517	0.815000	0.34398	0.555000	0.69702	AAG		0.512	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		24	308	1	0	9.90768e-06	1	1.12802e-05	24	308				
CPE	1363	broad.mit.edu	37	4	166414350	166414350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166414350C>T	ENST00000402744.4	+	7	1421	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	381					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGATTTGTCCGAGACCTTCA	0.403											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1141-1143)Cga>Tga		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						108.0	102.0	104.0					4																	166414350		2203	4300	6503	SO:0001587	stop_gained	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166414350C>T	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1141C>T	4.37:g.166414350C>T	ENSP00000386104:p.Arg381*		OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1854		p.R381*	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	7	1421	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	381					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Nonsense_Mutation	SNP	ENST00000402744.4	37	c.1141C>T	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615087	0.96649	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	.	.	.	5.78	4.89	0.63831	.	0.193630	0.43260	D	0.000585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5466	12.4807	0.55839	0.3125:0.6875:0.0:0.0	.	.	.	.	X	381;345	.	ENSP00000261510:R345X	R	+	1	2	CPE	166633800	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	4.397000	0.59690	2.890000	0.99128	0.655000	0.94253	CGA		0.403	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		8	29	0	0	0	1	0	8	29				
TYW1B	441250	broad.mit.edu	37	7	72081663	72081663	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72081663G>A	ENST00000435769.2	-	0	1902				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTACCTTTCTGTGTGCTATCA	0.433																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							132.0	107.0	114.0					7																	72081663		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081663G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081663G>A										Q6NUM6	TYW1B_HUMAN			0	1392	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.433	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	117	0	0	0	1	0	5	117				
ACE2	59272	broad.mit.edu	37	X	15618961	15618961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15618961G>A	ENST00000252519.3	-	1	176	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ACE2_ENST00000427411.1_Missense_Mutation_p.A25V|GS1-594A7.3_ENST00000421585.1_RNA			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	25					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AAATGTCTTGGCCTGTTCCTC	0.453																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(73-75)gCc>gTc		angiotensin I converting enzyme 2	Moexipril(DB00691)						144.0	116.0	125.0					X																	15618961		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15618961G>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.74C>T	X.37:g.15618961G>A	ENSP00000252519:p.Ala25Val					ACE2_ENST00000252519.3_Missense_Mutation_p.A25V	p.A25V	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			2	290	-	Hepatocellular(33;0.183)		25					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.74C>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244007	0.39697	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.45668	0.89;0.89	5.81	4.06	0.47325	.	0.108697	0.64402	N	0.000007	T	0.56171	0.1967	M	0.92649	3.33	0.42088	D	0.991285	P	0.45768	0.866	B	0.43809	0.432	T	0.65865	-0.6064	10	0.72032	D	0.01	-5.8449	11.9715	0.53065	0.144:0.0:0.856:0.0	.	25	Q9BYF1	ACE2_HUMAN	V	25	ENSP00000252519:A25V;ENSP00000389326:A25V	ENSP00000252519:A25V	A	-	2	0	ACE2	15528882	1.000000	0.71417	0.136000	0.22124	0.416000	0.31233	5.211000	0.65219	0.610000	0.30035	-0.198000	0.12761	GCC		0.453	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			37	58	0	0	0	1	0	37	58				
NYX	60506	broad.mit.edu	37	X	41333679	41333679	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41333679G>T	ENST00000342595.2	+	2	1429	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	NYX_ENST00000378220.1_Missense_Mutation_p.G325C	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	325					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.G325C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCAGCCCGGCTTCTTCCT	0.677																																						ENST00000342595.2																			1	Substitution - Missense(1)	p.G325C(1)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(973-975)Ggc>Tgc		nyctalopin							39.0	35.0	37.0					X																	41333679		2201	4298	6499	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333679G>T	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.973G>T	X.37:g.41333679G>T	ENSP00000340328:p.Gly325Cys					NYX_ENST00000378220.1_Missense_Mutation_p.G325C	p.G325C	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1429	+			325					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.973G>T	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522198	0.64747	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.79352	-1.26;-1.26	5.34	5.34	0.76211	.	0.183243	0.47093	D	0.000249	T	0.79753	0.4500	N	0.25201	0.72	0.40413	D	0.97976	D	0.76494	0.999	P	0.60236	0.871	T	0.82957	-0.0199	10	0.59425	D	0.04	.	18.2076	0.89859	0.0:0.0:1.0:0.0	.	325	Q9GZU5	NYX_HUMAN	C	325	ENSP00000340328:G325C;ENSP00000367465:G325C	ENSP00000340328:G325C	G	+	1	0	NYX	41218623	1.000000	0.71417	0.960000	0.40013	0.977000	0.68977	3.426000	0.52778	2.238000	0.73509	0.600000	0.82982	GGC		0.677	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		4	27	1	0	0.00024832	1	0.0002712	4	27				
TRBV6-5	28602	broad.mit.edu	37	7	142180758	142180758	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142180758G>A	ENST00000390368.2	-	0	166									T cell receptor beta variable 6-5																		GCTCTGTCCTGTCTTCAGGAC	0.527																																						ENST00000390368.2																			0																				187.0	185.0	185.0					7																	142180758		1982	4167	6149			0							g.chr7:142180758G>A	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180758G>A														0	166	-									RNA	SNP	ENST00000390368.2	37																																																																																						0.527	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		8	251	0	0	0	1	0	8	251				
ID3	3399	broad.mit.edu	37	1	23885873	23885873	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23885873G>A	ENST00000374561.5	-	1	412	c.45C>T	c.(43-45)tgC>tgT	p.C15C	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	15					central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCGACAGGCAGCACACCGCCT	0.642																																						ENST00000374561.5																			0				central_nervous_system(1)|lung(3)	4						c.(43-45)tgC>tgT		inhibitor of DNA binding 3, dominant negative helix-loop-helix protein							23.0	24.0	24.0					1																	23885873		2175	4245	6420	SO:0001819	synonymous_variant	3399				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	g.chr1:23885873G>A	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.45C>T	1.37:g.23885873G>A						ID3_ENST00000486541.1_5'UTR	p.C15C	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	412	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	15					A8K1T8|O75641	Silent	SNP	ENST00000374561.5	37	c.45C>T	CCDS237.1																																																																																				0.642	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167		18	16	0	0	0	1	0	18	16				
PAXIP1	22976	broad.mit.edu	37	7	154767645	154767645	+	Missense_Mutation	SNP	G	G	A	rs368695616		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154767645G>A	ENST00000404141.1	-	6	989	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	PAXIP1_ENST00000397192.1_Missense_Mutation_p.R279C|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	279					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGCAGCCTGCGTTTTGCTGCA	0.498																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(835-837)Cgc>Tgc		PAX interacting (with transcription-activation domain) protein 1							49.0	47.0	48.0					7																	154767645		1859	4089	5948	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767645G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.835C>T	7.37:g.154767645G>A	ENSP00000384048:p.Arg279Cys					PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R279C	p.R279C			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	989	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	279					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.835C>T	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057202	0.55325	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.49720	0.77;0.77	5.04	3.24	0.37175	.	0.109254	0.36815	U	0.002398	T	0.44705	0.1306	M	0.64997	1.995	0.47153	D	0.999331	B;P;B;P	0.52577	0.047;0.874;0.078;0.954	B;B;B;P	0.46049	0.01;0.351;0.023;0.502	T	0.37361	-0.9709	10	0.52906	T	0.07	-14.8225	5.1668	0.15090	0.228:0.0:0.6281:0.1439	.	232;188;245;279	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	C	279;279;227;232	ENSP00000384048:R279C;ENSP00000380376:R279C	ENSP00000319149:R232C	R	-	1	0	PAXIP1	154398578	1.000000	0.71417	0.979000	0.43373	0.767000	0.43475	3.826000	0.55738	0.640000	0.30582	0.305000	0.20034	CGC		0.498	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		16	23	0	0	0	1	0	16	23				
GALNT4	8693	broad.mit.edu	37	12	89917296	89917296	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89917296C>A	ENST00000529983.2	-	1	1287	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA|GALNT4_ENST00000413530.1_Missense_Mutation_p.R172M|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.R341M|POC1B_ENST00000313546.3_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	344	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGCCACACCCTAAAAGACAG	0.517																																						ENST00000548729.1																			0											c.(1021-1023)aGg>aTg									157.0	160.0	159.0					12																	89917296		2042	4208	6250	SO:0001583	missense	0							g.chr12:89917296C>A	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1031G>T	12.37:g.89917296C>A	ENSP00000436604:p.Arg344Met					POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.R172M|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|GALNT4_ENST00000529983.2_Missense_Mutation_p.R344M	p.R341M	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1324	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.1022G>T	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379179	0.82682	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.94576	-0.37;-3.46;-0.37	5.75	5.75	0.90469	.	.	.	.	.	D	0.98242	0.9418	H	0.96489	3.83	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99239	1.0884	9	0.87932	D	0	.	17.1022	0.86652	0.0:1.0:0.0:0.0	.	341;344	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	M	341;172;344	ENSP00000447852:R341M;ENSP00000389686:R172M;ENSP00000436604:R344M	ENSP00000436604:R344M	R	-	2	0	GALNT4;RP11-1109F11.4	88441427	1.000000	0.71417	0.882000	0.34594	0.994000	0.84299	6.036000	0.70948	2.717000	0.92951	0.585000	0.79938	AGG		0.517	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		42	102	1	0	1.7489e-18	1	2.28119e-18	42	102				
TMEM62	80021	broad.mit.edu	37	15	43444011	43444011	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43444011A>G	ENST00000260403.2	+	8	1169	c.890A>G	c.(889-891)cAc>cGc	p.H297R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	297						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCTTTTGATCACGACCTCTTT	0.373																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(889-891)cAc>cGc		transmembrane protein 62							220.0	200.0	207.0					15																	43444011		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43444011A>G	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.890A>G	15.37:g.43444011A>G	ENSP00000260403:p.His297Arg						p.H297R	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	8	1169	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	297					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.890A>G	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732215	0.89482	.	.	ENSG00000137842	ENST00000260403	T	0.53206	0.63	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69617	-0.5097	10	0.59425	D	0.04	-11.1203	15.4309	0.75099	1.0:0.0:0.0:0.0	.	297	Q0P6H9	TMM62_HUMAN	R	297	ENSP00000260403:H297R	ENSP00000260403:H297R	H	+	2	0	TMEM62	41231303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.807000	0.91935	2.102000	0.63906	0.454000	0.30748	CAC		0.373	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		21	137	0	0	0	1	0	21	137				
NID1	4811	broad.mit.edu	37	1	236205240	236205240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236205240C>A	ENST00000264187.6	-	4	1187	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	NID1_ENST00000366595.3_Missense_Mutation_p.D369Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	369					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TCATCCACATCTATGACCTGA	0.532																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(1105-1107)Gat>Tat		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						68.0	69.0	69.0					1																	236205240		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205240C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1105G>T	1.37:g.236205240C>A	ENSP00000264187:p.Asp369Tyr					NID1_ENST00000366595.3_Missense_Mutation_p.D369Y	p.D369Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	1187	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	369					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1105G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	8.612	0.889304	0.17540	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88975	-1.81;-2.45	5.81	4.87	0.63330	.	0.693754	0.15458	N	0.261263	D	0.91253	0.7243	L	0.56769	1.78	0.40728	D	0.98272	D;P	0.58620	0.983;0.555	P;B	0.54664	0.758;0.379	D	0.91066	0.4889	10	0.52906	T	0.07	.	15.2991	0.73933	0.0:0.8612:0.1388:0.0	.	369;369	P14543-2;P14543	.;NID1_HUMAN	Y	369	ENSP00000264187:D369Y;ENSP00000355554:D369Y	ENSP00000264187:D369Y	D	-	1	0	NID1	234271863	0.980000	0.34600	1.000000	0.80357	0.216000	0.24613	2.537000	0.45702	2.749000	0.94314	0.563000	0.77884	GAT		0.532	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		6	68	1	0	1.26484e-09	1	1.54084e-09	6	68				
WDR7	23335	broad.mit.edu	37	18	54424107	54424107	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54424107T>C	ENST00000254442.3	+	15	2494	c.2283T>C	c.(2281-2283)gaT>gaC	p.D761D	WDR7_ENST00000357574.3_Silent_p.D761D|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	761					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCTTGATGATGAAGAGGAGG	0.413																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(2281-2283)gaT>gaC		WD repeat domain 7							63.0	61.0	62.0					18																	54424107		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54424107T>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2283T>C	18.37:g.54424107T>C						WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.D761D	p.D761D	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2494	+			761					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.2283T>C	CCDS11962.1																																																																																				0.413	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			5	46	0	0	0	1	0	5	46				
PPAT	5471	broad.mit.edu	37	4	57261676	57261676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57261676C>T	ENST00000264220.2	-	11	1533	c.1396G>A	c.(1396-1398)Gtt>Att	p.V466I	RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	466					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	ACAGATGAAACCAGTCCTTCT	0.333																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1396-1398)Gtt>Att		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						97.0	90.0	92.0					4																	57261676		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57261676C>T		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1396G>A	4.37:g.57261676C>T	ENSP00000264220:p.Val466Ile						p.V466I	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			11	1533	-	Glioma(25;0.08)|all_neural(26;0.101)		466						Missense_Mutation	SNP	ENST00000264220.2	37	c.1396G>A	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510902	0.27036	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.28	4.19	0.49359	.	0.320867	0.33772	N	0.004561	T	0.26340	0.0643	N	0.04063	-0.285	0.44570	D	0.997533	B	0.02656	0.0	B	0.06405	0.002	T	0.11494	-1.0585	9	0.18276	T	0.48	-21.3555	9.4944	0.38980	0.0:0.8077:0.0:0.1923	.	466	Q06203	PUR1_HUMAN	I	466	.	ENSP00000264220:V466I	V	-	1	0	PPAT	56956433	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.824000	0.27379	2.628000	0.89032	0.650000	0.86243	GTT		0.333	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		10	13	0	0	0	1	0	10	13				
SPATA17	128153	broad.mit.edu	37	1	217975157	217975157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217975157C>T	ENST00000366933.4	+	9	1025	c.970C>T	c.(970-972)Cga>Tga	p.R324*	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	324						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACAATTCCGAAGTGAAAA	0.294																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(970-972)Cga>Tga		spermatogenesis associated 17							50.0	50.0	50.0					1																	217975157		2200	4289	6489	SO:0001587	stop_gained	128153					cytoplasm	calmodulin binding	g.chr1:217975157C>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.970C>T	1.37:g.217975157C>T	ENSP00000355900:p.Arg324*					SPATA17_ENST00000471021.1_3'UTR	p.R324*	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	9	1025	+			324					A5D6N2	Nonsense_Mutation	SNP	ENST00000366933.4	37	c.970C>T	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345382	0.82022	.	.	ENSG00000162814	ENST00000366933	.	.	.	5.0	3.0	0.34707	.	0.131042	0.32655	N	0.005820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3369	13.9343	0.64015	0.4132:0.5868:0.0:0.0	.	.	.	.	X	324	.	ENSP00000355900:R324X	R	+	1	2	SPATA17	216041780	1.000000	0.71417	0.545000	0.28153	0.473000	0.32948	1.605000	0.36815	0.504000	0.28082	0.563000	0.77884	CGA		0.294	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		8	28	0	0	0	1	0	8	28				
CCT6A	908	broad.mit.edu	37	7	56127304	56127304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56127304C>T	ENST00000275603.4	+	9	1255	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.H301Y|CCT6A_ENST00000540286.1_Missense_Mutation_p.H315Y	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	346					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGCTTGGGACATGCAGGACT	0.383																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1036-1038)Cat>Tat		chaperonin containing TCP1, subunit 6A (zeta 1)							107.0	94.0	98.0					7																	56127304		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56127304C>T	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1036C>T	7.37:g.56127304C>T	ENSP00000275603:p.His346Tyr					CCT6A_ENST00000335503.3_Missense_Mutation_p.H301Y|CCT6A_ENST00000540286.1_Missense_Mutation_p.H315Y	p.H346Y	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1255	+	Breast(14;0.214)		346					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.1036C>T	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	0.599	-0.829880	0.02734	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78364	-1.17;-1.17;-1.17	5.32	3.51	0.40186	.	0.310502	0.38058	N	0.001832	T	0.52757	0.1754	N	0.10707	0.03	0.45718	D	0.998629	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.47535	-0.9110	10	0.02654	T	1	-3.4272	10.9292	0.47207	0.0:0.8467:0.0:0.1533	.	315;301;346	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	Y	346;301;315;204	ENSP00000275603:H346Y;ENSP00000352019:H301Y;ENSP00000438488:H315Y	ENSP00000275603:H346Y	H	+	1	0	CCT6A	56094798	0.995000	0.38212	0.999000	0.59377	0.647000	0.38526	1.236000	0.32683	0.606000	0.29965	0.585000	0.79938	CAT		0.383	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		26	60	0	0	0	1	0	26	60				
FAHD2A	51011	broad.mit.edu	37	2	96078450	96078450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96078450G>A	ENST00000233379.4	+	7	973	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	FAHD2A_ENST00000447036.1_Missense_Mutation_p.V274I	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	274							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCAGGGGATGTCATCCTAAC	0.557																																						ENST00000233379.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						c.(820-822)Gtc>Atc		fumarylacetoacetate hydrolase domain containing 2A							54.0	53.0	53.0					2																	96078450		2203	4300	6503	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96078450G>A	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.820G>A	2.37:g.96078450G>A	ENSP00000233379:p.Val274Ile					FAHD2A_ENST00000447036.1_Missense_Mutation_p.V274I	p.V274I	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN			7	973	+			274					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.820G>A	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	0.523	-0.861379	0.02610	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.96587	-4.06;-4.06	3.38	-0.817	0.10836	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.382555	0.25948	N	0.027276	D	0.87438	0.6177	N	0.16368	0.405	0.22096	N	0.999361	B	0.06786	0.001	B	0.12156	0.007	T	0.75439	-0.3317	10	0.10902	T	0.67	.	4.0206	0.09664	0.456:0.1833:0.3606:0.0	.	274	Q96GK7	FAH2A_HUMAN	I	274	ENSP00000406424:V274I;ENSP00000233379:V274I	ENSP00000233379:V274I	V	+	1	0	FAHD2A	95442177	0.084000	0.21492	0.427000	0.26684	0.576000	0.36127	0.338000	0.19858	-0.337000	0.08426	0.491000	0.48974	GTC		0.557	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		9	14	0	0	0	1	0	9	14				
KDM4C	23081	broad.mit.edu	37	9	7013989	7013989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:7013989C>T	ENST00000381309.3	+	14	2735	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	KDM4C_ENST00000536108.1_Missense_Mutation_p.R543W|KDM4C_ENST00000543771.1_Missense_Mutation_p.R724W|KDM4C_ENST00000381306.3_Missense_Mutation_p.R724W|KDM4C_ENST00000442236.2_Missense_Mutation_p.R469W|KDM4C_ENST00000535193.1_Missense_Mutation_p.R746W|KDM4C_ENST00000428870.2_Missense_Mutation_p.R411W	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	724					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTGCTGCGTACGGGTTCATGC	0.368																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2170-2172)Cgg>Tgg		lysine (K)-specific demethylase 4C							116.0	113.0	114.0					9																	7013989		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7013989C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2170C>T	9.37:g.7013989C>T	ENSP00000370710:p.Arg724Trp					KDM4C_ENST00000543771.1_Missense_Mutation_p.R724W|KDM4C_ENST00000381306.3_Missense_Mutation_p.R724W|KDM4C_ENST00000442236.2_Missense_Mutation_p.R469W|KDM4C_ENST00000428870.2_Missense_Mutation_p.R411W|KDM4C_ENST00000535193.1_Missense_Mutation_p.R746W|KDM4C_ENST00000536108.1_Missense_Mutation_p.R543W	p.R724W	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			14	2735	+			724					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.2170C>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070097	0.93950	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T;D	0.98455	0.52;0.52;2.45;0.52;0.52;2.13;0.52;-4.94	4.78	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.183599	0.49305	D	0.000159	D	0.98557	0.9518	L	0.60455	1.87	0.50467	D	0.999878	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;D	0.73708	0.981;0.897;0.931;0.912;0.931	D	0.99793	1.1032	10	0.72032	D	0.01	-0.196	18.3658	0.90390	0.0:1.0:0.0:0.0	.	469;724;746;724;724	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	W	746;724;724;724;469;543;411;68	ENSP00000442382:R746W;ENSP00000445427:R724W;ENSP00000370710:R724W;ENSP00000370707:R724W;ENSP00000409353:R469W;ENSP00000440656:R543W;ENSP00000405739:R411W;ENSP00000400127:R68W	ENSP00000370707:R724W	R	+	1	2	KDM4C	7003989	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.057000	0.76669	2.635000	0.89317	0.585000	0.79938	CGG		0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		6	117	0	0	0	1	0	6	117				
SLC22A23	63027	broad.mit.edu	37	6	3410478	3410478	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3410478A>C	ENST00000406686.3	-	3	856	c.857T>G	c.(856-858)cTc>cGc	p.L286R	SLC22A23_ENST00000380298.2_Missense_Mutation_p.L286R|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L5R|SLC22A23_ENST00000436008.2_Missense_Mutation_p.L286R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L5R	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	286					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AAAGAACCTGAGTGTGCTGAA	0.463																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(856-858)cTc>cGc		solute carrier family 22, member 23							110.0	94.0	99.0					6																	3410478		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3410478A>C	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.857T>G	6.37:g.3410478A>C	ENSP00000385028:p.Leu286Arg					SLC22A23_ENST00000406686.3_Missense_Mutation_p.L286R|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L5R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L5R|SLC22A23_ENST00000380298.2_Missense_Mutation_p.L286R	p.L286R			A1A5C7	S22AN_HUMAN			3	1319	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	286					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.857T>G	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470748	0.84533	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177;ENST00000380298	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82568	0.5065	M	0.75085	2.285	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85080	0.0945	10	0.62326	D	0.03	-30.5155	15.0144	0.71573	1.0:0.0:0.0:0.0	.	286;286	C9J4Z0;A1A5C7	.;S22AN_HUMAN	R	286;286;5;5;114;112;286	ENSP00000410245:L286R;ENSP00000385028:L286R;ENSP00000369657:L5R;ENSP00000419463:L5R;ENSP00000418134:L114R;ENSP00000418985:L112R;ENSP00000369653:L286R	ENSP00000369653:L286R	L	-	2	0	SLC22A23	3355477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.770000	0.91746	1.960000	0.56953	0.460000	0.39030	CTC		0.463	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		4	33	0	0	0	1	0	4	33				
MAGEA3	4102	broad.mit.edu	37	X	151935890	151935890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151935890C>A	ENST00000393902.3	-	3	844	c.277G>T	c.(277-279)Gag>Tag	p.E93*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E93*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	93										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGCCCCTCCTCTTCTTGG	0.567																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(277-279)Gag>Tag		melanoma antigen family A, 3							90.0	83.0	86.0					X																	151935890		2202	4290	6492	SO:0001587	stop_gained	4102							g.chrX:151935890C>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.277G>T	X.37:g.151935890C>A	ENSP00000377480:p.Glu93*					MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E93*	p.E93*			P43357	MAGA3_HUMAN			3	844	-	Acute lymphoblastic leukemia(192;6.56e-05)		93					Q6FHI6	Nonsense_Mutation	SNP	ENST00000393902.3	37	c.277G>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.855382	0.91355	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	.	.	.	1.1	0.0402	0.14208	.	0.465501	0.25792	N	0.028270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.6597	0.12636	0.0:0.5967:0.4033:0.0	.	.	.	.	X	93	.	ENSP00000359301:E93X	E	-	1	0	MAGEA3	151686546	0.000000	0.05858	0.005000	0.12908	0.030000	0.12068	-0.499000	0.06413	-0.038000	0.13624	0.358000	0.22013	GAG		0.567	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		6	83	1	0	2.0095e-06	1	2.31757e-06	6	83				
CLEC1A	51267	broad.mit.edu	37	12	10225962	10225962	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10225962T>C	ENST00000315330.4	-	5	654	c.592A>G	c.(592-594)Aca>Gca	p.T198A	CLEC1A_ENST00000457018.2_Missense_Mutation_p.T165A|CLEC1A_ENST00000420265.2_Missense_Mutation_p.T106A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAAAGCCCTGTCCAATAAGAG	0.463																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(592-594)Aca>Gca		C-type lectin domain family 1, member A							79.0	76.0	77.0					12																	10225962		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10225962T>C	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.592A>G	12.37:g.10225962T>C	ENSP00000326407:p.Thr198Ala					CLEC1A_ENST00000420265.2_Missense_Mutation_p.T106A|CLEC1A_ENST00000457018.2_Missense_Mutation_p.T165A	p.T198A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			5	654	-			198			C-type lectin.		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.592A>G	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338561	0.41398	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.18174	2.23;2.23;2.23	5.4	5.4	0.78164	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.208574	0.34223	N	0.004158	T	0.29321	0.0730	M	0.77313	2.365	0.34579	D	0.714308	B;P;B	0.44344	0.334;0.833;0.445	B;P;B	0.46362	0.197;0.514;0.217	T	0.51371	-0.8714	10	0.87932	D	0	.	12.0993	0.53774	0.0:0.0:0.0:1.0	.	106;165;198	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	A	198;165;106	ENSP00000326407:T198A;ENSP00000415048:T165A;ENSP00000417010:T106A	ENSP00000326407:T198A	T	-	1	0	CLEC1A	10117229	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	3.752000	0.55172	2.169000	0.68431	0.533000	0.62120	ACA		0.463	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		27	24	0	0	0	1	0	27	24				
KRT5	3852	broad.mit.edu	37	12	52914038	52914038	+	Missense_Mutation	SNP	G	G	A	rs374322915		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52914038G>A	ENST00000252242.4	-	1	433	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	15	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCTACGACTGCCCCCG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16057	0.0		0.0	False		,,,				2504	0.0					ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(43-45)Cgt>Tgt		keratin 5		G	CYS/ARG	4,4394		0,4,2195	21.0	26.0	24.0		43	4.1	0.2	12		24	0,8594		0,0,4297	no	missense	KRT5	NM_000424.3	180	0,4,6492	AA,AG,GG		0.0,0.091,0.0308	probably-damaging	15/591	52914038	4,12988	2199	4297	6496	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52914038G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.43C>T	12.37:g.52914038G>A	ENSP00000252242:p.Arg15Cys						p.R15C	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	433	-			15			Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.43C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629694	0.28978	9.1E-4	0.0	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275;ENST00000546577	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	6.02	4.09	0.47781	.	0.000000	0.56097	D	0.000027	T	0.69940	0.3167	M	0.63208	1.945	0.23336	N	0.997888	D	0.62365	0.991	B	0.40410	0.328	T	0.68515	-0.5388	10	0.72032	D	0.01	.	5.9947	0.19487	0.0725:0.1346:0.6537:0.1392	.	15	P13647	K2C5_HUMAN	C	15	ENSP00000252242:R15C;ENSP00000447209:R15C;ENSP00000448041:R15C;ENSP00000449651:R15C	ENSP00000252242:R15C	R	-	1	0	KRT5	51200305	0.000000	0.05858	0.204000	0.23530	0.146000	0.21551	0.358000	0.20216	1.548000	0.49413	0.650000	0.86243	CGT		0.652	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			9	11	0	0	0	1	0	9	11				
SACS	26278	broad.mit.edu	37	13	23905914	23905914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905914G>T	ENST00000382292.3	-	9	12374	c.12101C>A	c.(12100-12102)gCc>gAc	p.A4034D	SACS_ENST00000402364.1_Missense_Mutation_p.A3284D|SACS_ENST00000382298.3_Missense_Mutation_p.A4034D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4034					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTCTTATGGCTTTTTCTTC	0.353																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12100-12102)gCc>gAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							46.0	48.0	47.0					13																	23905914		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905914G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12101C>A	13.37:g.23905914G>T	ENSP00000371729:p.Ala4034Asp					SACS_ENST00000382292.3_Missense_Mutation_p.A4034D|SACS_ENST00000402364.1_Missense_Mutation_p.A3284D	p.A4034D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12689	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4034					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12101C>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351203	0.82132	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88975	-2.3;-2.45;-2.3	5.52	5.52	0.82312	.	0.048206	0.85682	D	0.000000	D	0.84428	0.5470	L	0.29908	0.895	0.58432	D	0.999992	P	0.38922	0.651	B	0.35931	0.214	D	0.85923	0.1447	10	0.66056	D	0.02	.	19.4253	0.94739	0.0:0.0:1.0:0.0	.	4034	Q9NZJ4	SACS_HUMAN	D	4034;3284;4034	ENSP00000371729:A4034D;ENSP00000385844:A3284D;ENSP00000371735:A4034D	ENSP00000371729:A4034D	A	-	2	0	SACS	22803914	1.000000	0.71417	0.995000	0.50966	0.829000	0.46940	7.944000	0.87722	2.573000	0.86826	0.655000	0.94253	GCC		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		20	44	1	0	1.10513e-12	1	1.39297e-12	20	44				
CATSPER1	117144	broad.mit.edu	37	11	65787651	65787651	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65787651C>A	ENST00000312106.5	-	9	2222	c.2085G>T	c.(2083-2085)gaG>gaT	p.E695D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	695					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGCAGCTTCTCTTGGATCC	0.667																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2083-2085)gaG>gaT		cation channel, sperm associated 1							39.0	42.0	41.0					11																	65787651		2201	4295	6496	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65787651C>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2085G>T	11.37:g.65787651C>A	ENSP00000309052:p.Glu695Asp						p.E695D	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			9	2222	-			695					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.2085G>T	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788375	0.31593	.	.	ENSG00000175294	ENST00000312106	D	0.97161	-4.27	4.6	2.74	0.32292	.	.	.	.	.	D	0.92685	0.7675	L	0.32530	0.975	0.09310	N	0.999999	P	0.43094	0.799	B	0.38378	0.272	D	0.86023	0.1508	9	0.41790	T	0.15	-26.1078	6.6882	0.23156	0.0:0.7886:0.0:0.2114	.	695	Q8NEC5	CTSR1_HUMAN	D	695	ENSP00000309052:E695D	ENSP00000309052:E695D	E	-	3	2	CATSPER1	65544227	0.925000	0.31364	0.059000	0.19551	0.025000	0.11179	1.297000	0.33400	0.577000	0.29470	0.591000	0.81541	GAG		0.667	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		19	47	1	0	9.7654e-05	1	0.000108049	19	47				
ATP11C	286410	broad.mit.edu	37	X	138882243	138882243	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138882243C>A	ENST00000327569.3	-	8	793	c.695G>T	c.(694-696)aGt>aTt	p.S232I	ATP11C_ENST00000370557.1_Missense_Mutation_p.S229I|ATP11C_ENST00000361648.2_Missense_Mutation_p.S232I|ATP11C_ENST00000370543.1_Missense_Mutation_p.S232I|ATP11C_ENST00000460773.1_5'Flank|ATP11C_ENST00000359686.2_Missense_Mutation_p.S232I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	232					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGACTATTACTGTAGATATT	0.363																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(685-687)aGt>aTt		ATPase, class VI, type 11C							70.0	67.0	68.0					X																	138882243		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138882243C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.695G>T	X.37:g.138882243C>A	ENSP00000332756:p.Ser232Ile					ATP11C_ENST00000361648.2_Missense_Mutation_p.S232I|ATP11C_ENST00000327569.3_Missense_Mutation_p.S232I|ATP11C_ENST00000359686.2_Missense_Mutation_p.S232I|ATP11C_ENST00000370543.1_Missense_Mutation_p.S232I	p.S229I			Q8NB49	AT11C_HUMAN			8	1713	-	Acute lymphoblastic leukemia(192;0.000127)		232					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.686G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869900	0.33069	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.07688	3.17;3.21;3.21;3.21;3.21	5.88	3.19	0.36642	ATPase, P-type, ATPase-associated domain (1);	0.617195	0.18986	N	0.125733	T	0.07279	0.0184	L	0.31476	0.935	0.09310	N	0.999998	B;B	0.30021	0.265;0.202	B;B	0.33121	0.098;0.158	T	0.28490	-1.0042	10	0.62326	D	0.03	.	7.861	0.29509	0.0:0.6783:0.0:0.3217	.	232;232	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	I	229;232;232;232;232	ENSP00000359588:S229I;ENSP00000355165:S232I;ENSP00000332756:S232I;ENSP00000359574:S232I;ENSP00000352715:S232I	ENSP00000332756:S232I	S	-	2	0	ATP11C	138709909	0.167000	0.22975	1.000000	0.80357	0.987000	0.75469	-0.206000	0.09398	0.637000	0.30526	0.600000	0.82982	AGT		0.363	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		4	61	1	0	0.00909568	1	0.00947522	4	61				
LILRA3	11026	broad.mit.edu	37	19	54800090	54800090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54800090G>T	ENST00000251390.3	-	7	1367	c.1276C>A	c.(1276-1278)Ctc>Atc	p.L426I	LILRA3_ENST00000391745.1_Missense_Mutation_p.L443I|LILRA3_ENST00000391744.3_Missense_Mutation_p.L362I	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	426					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTGAGGGTCTCAGCT	0.483																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1327-1329)Ctc>Atc		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							117.0	94.0	102.0					19																	54800090		2203	4300	6503	SO:0001583	missense	0							g.chr19:54800090G>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1276C>A	19.37:g.54800090G>T	ENSP00000251390:p.Leu426Ile					LILRA3_ENST00000391744.3_Missense_Mutation_p.L362I|LILRA3_ENST00000251390.3_Missense_Mutation_p.L426I	p.L443I						GBM - Glioblastoma multiforme(193;0.105)	11	1643	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.1327C>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.262541	0.00262	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00675	5.89;5.9;5.88	1.33	-2.66	0.06077	.	.	.	.	.	T	0.00637	0.0021	L	0.37850	1.14	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.15870	0.007;0.014	T	0.48490	-0.9031	9	0.14656	T	0.56	.	2.5211	0.04680	0.1632:0.1411:0.4962:0.1996	.	426;426	E7EU74;Q8N6C8	.;LIRA3_HUMAN	I	426;362;443	ENSP00000251390:L426I;ENSP00000375624:L362I;ENSP00000375625:L443I	ENSP00000251390:L426I	L	-	1	0	LILRA3	59491902	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.145000	0.03194	-3.567000	0.00140	-2.697000	0.00138	CTC		0.483	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	31	1	0	0.184627	1	0.186383	4	31				
CHRM5	1133	broad.mit.edu	37	15	34355192	34355192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355192C>T	ENST00000383263.5	+	3	944	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	CHRM5_ENST00000557872.1_Missense_Mutation_p.L92F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	92					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CACCTACATCCTCATGGGACG	0.517																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(274-276)Ctc>Ttc		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						89.0	73.0	78.0					15																	34355192		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355192C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.274C>T	15.37:g.34355192C>T	ENSP00000372750:p.Leu92Phe					CHRM5_ENST00000557872.1_Missense_Mutation_p.L92F	p.L92F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	944	+		all_lung(180;1.76e-08)	92					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.274C>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857111	0.71834	.	.	ENSG00000184984	ENST00000383263	T	0.28454	1.61	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53514	-0.8428	10	0.72032	D	0.01	-20.0258	18.8715	0.92317	0.0:1.0:0.0:0.0	.	92	P08912	ACM5_HUMAN	F	92	ENSP00000372750:L92F	ENSP00000372750:L92F	L	+	1	0	CHRM5	32142484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.072000	0.50049	2.937000	0.99478	0.650000	0.86243	CTC		0.517	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			10	20	0	0	0	1	0	10	20				
RASA3	22821	broad.mit.edu	37	13	114751266	114751266	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114751266G>T	ENST00000334062.7	-	23	2370	c.2249C>A	c.(2248-2250)gCc>gAc	p.A750D	RASA3_ENST00000389544.4_Missense_Mutation_p.A718D	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	750					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCTCCCACAGGCCTCTGTGGA	0.637																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2248-2250)gCc>gAc		RAS p21 protein activator 3							64.0	61.0	62.0					13																	114751266		2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114751266G>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2249C>A	13.37:g.114751266G>T	ENSP00000335029:p.Ala750Asp					RASA3_ENST00000389544.4_Missense_Mutation_p.A718D	p.A750D	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		23	2370	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	750					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2249C>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386992	0.82902	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.86627	-2.04;-2.15	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.91317	0.7262	M	0.71581	2.175	0.80722	D	1	D	0.55605	0.972	P	0.56398	0.797	D	0.91349	0.5103	9	.	.	.	.	17.8428	0.88720	0.0:0.0:1.0:0.0	.	750	Q14644	RASA3_HUMAN	D	750;718	ENSP00000335029:A750D;ENSP00000374195:A718D	.	A	-	2	0	RASA3	113769368	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	8.677000	0.91203	2.203000	0.70933	0.491000	0.48974	GCC		0.637	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		16	30	1	0	1.15088e-07	1	1.35723e-07	16	30				
ZNHIT6	54680	broad.mit.edu	37	1	86172138	86172138	+	Nonsense_Mutation	SNP	G	G	A	rs140637481		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86172138G>A	ENST00000370574.3	-	2	842	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ZNHIT6_ENST00000431532.2_Nonsense_Mutation_p.R198*			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	237					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CAGGAATATCGCATACAACGT	0.348																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(592-594)Cga>Tga		zinc finger, HIT-type containing 6		G	stop/ARG,stop/ARG	0,4406		0,0,2203	150.0	147.0	148.0		592,709	2.7	1.0	1	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	ZNHIT6	NM_001170670.1,NM_017953.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	198/432,237/471	86172138	1,13005	2203	4300	6503	SO:0001587	stop_gained	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86172138G>A	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.709C>T	1.37:g.86172138G>A	ENSP00000359606:p.Arg237*					ZNHIT6_ENST00000370574.3_Nonsense_Mutation_p.R237*	p.R198*	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			3	740	-			237			Glu-rich.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Nonsense_Mutation	SNP	ENST00000370574.3	37	c.592C>T	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	37	6.624756	0.97714	0.0	1.16E-4	ENSG00000117174	ENST00000431532;ENST00000370574	.	.	.	4.79	2.67	0.31697	.	0.400735	0.22278	N	0.062178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-9.303	11.2705	0.49136	0.0:0.0:0.4278:0.5722	.	.	.	.	X	198;237	.	ENSP00000359606:R237X	R	-	1	2	ZNHIT6	85944726	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.599000	0.46231	1.278000	0.44430	0.650000	0.86243	CGA		0.348	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		39	113	0	0	0	1	0	39	113				
SNUPN	10073	broad.mit.edu	37	15	75899557	75899557	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75899557C>A	ENST00000564644.1	-	7	1178	c.600G>T	c.(598-600)caG>caT	p.Q200H	SNUPN_ENST00000564675.1_Splice_Site_p.Q200H|SNUPN_ENST00000308588.5_Splice_Site_p.Q200H|SNUPN_ENST00000371091.5_Splice_Site_p.Q242H|SNUPN_ENST00000567134.1_Splice_Site_p.Q200H			O95149	SPN1_HUMAN	snurportin 1	200					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CCATCCCTACCTGGCAATCAT	0.502																																						ENST00000371091.5																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.e7+1		snurportin 1							154.0	123.0	134.0					15																	75899557		2197	4294	6491	SO:0001630	splice_region_variant	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75899557C>A	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.600+1G>T	15.37:g.75899557C>A						SNUPN_ENST00000567134.1_Splice_Site_p.Q200_splice|SNUPN_ENST00000308588.5_Splice_Site_p.Q200_splice|SNUPN_ENST00000564644.1_Splice_Site_p.Q200_splice|SNUPN_ENST00000564675.1_Splice_Site_p.Q200_splice	p.Q242_splice			O95149	SPN1_HUMAN			7	1178	-			200			Necessary for binding to the m3G-cap structure.		A6NE34|A8K0B0|D3DW76	Splice_Site	SNP	ENST00000564644.1	37	c.726_splice	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	-	19.31	3.802193	0.70682	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.63096	-0.02;-0.02	5.58	5.58	0.84498	.	0.236983	0.44097	D	0.000490	T	0.70518	0.3233	M	0.72118	2.19	0.43133	D	0.994875	D;D	0.64830	0.979;0.994	P;P	0.49752	0.573;0.621	T	0.72334	-0.4325	9	.	.	.	-27.6034	18.327	0.90258	0.0:1.0:0.0:0.0	.	242;200	C9K0X5;O95149	.;SPN1_HUMAN	H	200;242	ENSP00000309831:Q200H;ENSP00000360132:Q242H	.	Q	-	3	2	SNUPN	73686612	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	1.372000	0.34261	2.663000	0.90544	0.639000	0.83563	CAG		0.502	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701	Missense_Mutation	4	57	1	0	0.000602214	1	0.000649039	4	57				
KIAA1958	158405	broad.mit.edu	37	9	115422292	115422292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115422292C>T	ENST00000337530.6	+	4	2390	c.2094C>T	c.(2092-2094)acC>acT	p.T698T	KIAA1958_ENST00000536272.1_Silent_p.T726T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	698										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAACTTCACCTTTGTCTCGT	0.607																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(2092-2094)acC>acT		KIAA1958							83.0	80.0	81.0					9																	115422292		2203	4300	6503	SO:0001819	synonymous_variant	158405							g.chr9:115422292C>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.2094C>T	9.37:g.115422292C>T						KIAA1958_ENST00000536272.1_Silent_p.T726T	p.T698T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	2390	+			698					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.2094C>T	CCDS35108.1																																																																																				0.607	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		16	30	0	0	0	1	0	16	30				
PEX13	5194	broad.mit.edu	37	2	61258835	61258835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258835G>A	ENST00000295030.5	+	2	412	c.374G>A	c.(373-375)aGc>aAc	p.S125N	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	125					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCTGAAGAAAGCAGCAGGGGT	0.443																																						ENST00000295030.4																			0				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(373-375)aGc>aAc		peroxisomal biogenesis factor 13							149.0	141.0	144.0					2																	61258835		2203	4300	6503	SO:0001583	missense	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61258835G>A	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.374G>A	2.37:g.61258835G>A	ENSP00000295030:p.Ser125Asn					PEX13_ENST00000472678.1_3'UTR	p.S125N	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		2	412	+			125					B2RCS1	Missense_Mutation	SNP	ENST00000295030.5	37	c.374G>A	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884543	0.91814	.	.	ENSG00000162928	ENST00000295030	D	0.83992	-1.79	5.85	5.85	0.93711	Peroxin 13, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.77103	2.36	0.80722	D	1	P	0.49635	0.926	P	0.56563	0.801	D	0.88706	0.3219	10	0.42905	T	0.14	-14.6139	20.1649	0.98147	0.0:0.0:1.0:0.0	.	125	Q92968	PEX13_HUMAN	N	125	ENSP00000295030:S125N	ENSP00000295030:S125N	S	+	2	0	PEX13	61112339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.656000	0.98514	2.753000	0.94483	0.655000	0.94253	AGC		0.443	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		41	72	0	0	0	1	0	41	72				
UBE3A	7337	broad.mit.edu	37	15	25601967	25601967	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25601967A>G	ENST00000397954.2	-	6	1838	c.1839T>C	c.(1837-1839)acT>acC	p.T613T	UBE3A_ENST00000566215.1_Silent_p.T590T|UBE3A_ENST00000428984.2_Silent_p.T590T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Silent_p.T590T|UBE3A_ENST00000232165.3_Silent_p.T610T			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	613					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCCAATCAGAGTAAACTGAC	0.338																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1828-1830)acT>acC		ubiquitin protein ligase E3A							180.0	193.0	189.0					15																	25601967		2203	4300	6503	SO:0001819	synonymous_variant	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25601967A>G	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1839T>C	15.37:g.25601967A>G						UBE3A_ENST00000397954.2_Silent_p.T613T|UBE3A_ENST00000438097.1_Silent_p.T590T|UBE3A_ENST00000566215.1_Silent_p.T590T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Silent_p.T590T	p.T610T	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	8	2486	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	613					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Silent	SNP	ENST00000397954.2	37	c.1830T>C	CCDS45192.1																																																																																				0.338	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		128	187	0	0	0	1	0	128	187				
ZNF34	80778	broad.mit.edu	37	8	145999691	145999691	+	Missense_Mutation	SNP	G	G	A	rs374294174		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145999691G>A	ENST00000343459.4	-	6	708	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ZNF34_ENST00000429371.2_Missense_Mutation_p.R194C			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTGTGTACACGCTTATGGTTG	0.388																																						ENST00000429371.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(580-582)Cgt>Tgt		zinc finger protein 34							52.0	51.0	51.0					8																	145999691		1889	4119	6008	SO:0001583	missense	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145999691G>A	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.643C>T	8.37:g.145999691G>A	ENSP00000341528:p.Arg215Cys					ZNF34_ENST00000343459.4_Missense_Mutation_p.R215C	p.R194C	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	733	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	215					D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	c.580C>T	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251768	0.39797	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371;ENST00000534337	T;T;T	0.58506	0.33;0.33;0.33	3.77	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32987	N	0.005414	T	0.70325	0.3211	M	0.80183	2.485	0.27346	N	0.956388	D;D	0.89917	1.0;1.0	P;P	0.59546	0.859;0.859	T	0.65220	-0.6221	10	0.87932	D	0	.	10.956	0.47358	0.0:0.0:0.5239:0.4761	.	174;215	E7EN25;Q8IZ26	.;ZNF34_HUMAN	C	174;144;215;194;154	ENSP00000341528:R215C;ENSP00000396894:R194C;ENSP00000434049:R154C	ENSP00000341528:R215C	R	-	1	0	ZNF34	145970495	0.000000	0.05858	0.307000	0.25127	0.440000	0.31957	-0.718000	0.04980	0.485000	0.27652	0.609000	0.83330	CGT		0.388	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		11	20	0	0	0	1	0	11	20				
MED13L	23389	broad.mit.edu	37	12	116675279	116675279	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116675279G>A	ENST00000281928.3	-	2	510	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	102						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTACCCTGCAGTTCATGATGT	0.343																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(304-306)Ctg>Ttg		mediator complex subunit 13-like							96.0	89.0	91.0					12																	116675279		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116675279G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.304C>T	12.37:g.116675279G>A						MED13L_ENST00000551197.1_5'UTR	p.L102L	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	2	510	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		102					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.304C>T	CCDS9177.1																																																																																				0.343	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			29	36	0	0	0	1	0	29	36				
CSPG4	1464	broad.mit.edu	37	15	75975062	75975062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75975062G>A	ENST00000308508.5	-	7	4761	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1557	Gly/Ser-rich (glycosaminoglycan attachment domain).			R -> P (in Ref. 1; CAA65529). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCGGAAGCGGAAGCCTCCA	0.667																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4669-4671)Cgc>Tgc		chondroitin sulfate proteoglycan 4							39.0	38.0	38.0					15																	75975062		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75975062G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4669C>T	15.37:g.75975062G>A	ENSP00000312506:p.Arg1557Cys						p.R1557C	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			7	4761	-			1557	R -> P (in Ref. 1; CAA65529).		Gly/Ser-rich (glycosaminoglycan attachment domain).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.4669C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307384	0.23821	.	.	ENSG00000173546	ENST00000308508	T	0.43294	0.95	4.61	2.72	0.32119	.	1.451320	0.04302	N	0.347461	T	0.29620	0.0739	L	0.29908	0.895	0.21652	N	0.99961	P	0.46327	0.876	B	0.36766	0.232	T	0.23797	-1.0178	10	0.59425	D	0.04	.	4.6646	0.12659	0.276:0.1751:0.5489:0.0	.	1557	Q6UVK1	CSPG4_HUMAN	C	1557	ENSP00000312506:R1557C	ENSP00000312506:R1557C	R	-	1	0	CSPG4	73762117	0.979000	0.34478	0.538000	0.28064	0.098000	0.18820	1.853000	0.39358	0.495000	0.27882	0.555000	0.69702	CGC		0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		8	28	0	0	0	1	0	8	28				
MYPN	84665	broad.mit.edu	37	10	69966569	69966569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69966569G>A	ENST00000358913.5	+	19	4190	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	MYPN_ENST00000354393.2_Silent_p.Q959Q|MYPN_ENST00000540630.1_Silent_p.Q1234Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1234	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCTCATTCAGCCAGCCAAGA	0.483																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3700-3702)caG>caA		myopalladin							153.0	145.0	148.0					10																	69966569		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69966569G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3702G>A	10.37:g.69966569G>A						MYPN_ENST00000354393.2_Silent_p.Q959Q|MYPN_ENST00000540630.1_Silent_p.Q1234Q	p.Q1234Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			19	4190	+			1234			Ig-like 5.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3702G>A	CCDS7275.1																																																																																				0.483	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		45	68	0	0	0	1	0	45	68				
ITPKB	3707	broad.mit.edu	37	1	226829634	226829634	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226829634G>A	ENST00000272117.3	-	4	2438	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	ITPKB_ENST00000429204.1_Silent_p.I813I			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	813					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGATTCCCTCGATCCTGAACC	0.657																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2437-2439)atC>atT		inositol-trisphosphate 3-kinase B							107.0	89.0	95.0					1																	226829634		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226829634G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2439C>T	1.37:g.226829634G>A						ITPKB_ENST00000272117.3_Silent_p.I813I	p.I813I	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			5	2766	-		Prostate(94;0.0773)	813					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.2439C>T	CCDS1555.1																																																																																				0.657	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		44	60	0	0	0	1	0	44	60				
DNAI2	64446	broad.mit.edu	37	17	72278016	72278016	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72278016C>A	ENST00000311014.6	+	2	127	c.60C>A	c.(58-60)ttC>ttA	p.F20L	DNAI2_ENST00000446837.2_Missense_Mutation_p.F20L|DNAI2_ENST00000582036.1_Missense_Mutation_p.F20L|DNAI2_ENST00000579490.1_Missense_Mutation_p.F77L|DNAI2_ENST00000307504.5_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	20					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGTGCAATTTCTCGGACCGCC	0.622									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(229-231)ttC>ttA		dynein, axonemal, intermediate chain 2							137.0	116.0	123.0					17																	72278016		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72278016C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.60C>A	17.37:g.72278016C>A	ENSP00000308312:p.Phe20Leu					DNAI2_ENST00000582036.1_Missense_Mutation_p.F20L|DNAI2_ENST00000446837.2_Missense_Mutation_p.F20L|DNAI2_ENST00000311014.6_Missense_Mutation_p.F20L|DNAI2_ENST00000307504.5_5'UTR	p.F77L			Q9GZS0	DNAI2_HUMAN			1	366	+			20					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.231C>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482308	0.84747	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.75821	-0.97;-0.97	5.22	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89253	0.3592	10	0.87932	D	0	-41.7324	8.5465	0.33424	0.0:0.7726:0.0:0.2274	.	20	Q9GZS0	DNAI2_HUMAN	L	20	ENSP00000308312:F20L;ENSP00000400252:F20L	ENSP00000308312:F20L	F	+	3	2	DNAI2	69789611	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	1.494000	0.35616	1.461000	0.47929	0.650000	0.86243	TTC		0.622	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		37	62	1	0	2.09667e-21	1	2.75882e-21	37	62				
FREM1	158326	broad.mit.edu	37	9	14808009	14808009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14808009G>A	ENST00000380880.3	-	17	3800	c.3017C>T	c.(3016-3018)gCg>gTg	p.A1006V	FREM1_ENST00000422223.2_Missense_Mutation_p.A1006V|FREM1_ENST00000380881.4_Missense_Mutation_p.A1007V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1006					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAAGGACGCATGAAGTGG	0.453																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3019-3021)gCg>gTg		FRAS1 related extracellular matrix 1							275.0	274.0	274.0					9																	14808009		2053	4192	6245	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14808009G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3017C>T	9.37:g.14808009G>A	ENSP00000370262:p.Ala1006Val					FREM1_ENST00000422223.2_Missense_Mutation_p.A1006V|FREM1_ENST00000380880.3_Missense_Mutation_p.A1006V	p.A1007V			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	18	3835	-			1006					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3020C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152626	0.21371	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10573	2.86;2.86;2.86	5.74	0.675	0.17952	.	1.301030	0.04599	N	0.398211	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.19391	0.025	T	0.41034	-0.9531	10	0.30078	T	0.28	-0.901	6.0099	0.19569	0.0:0.1866:0.2405:0.5729	.	1006	Q5H8C1	FREM1_HUMAN	V	1007;1006;1006	ENSP00000370263:A1007V;ENSP00000412940:A1006V;ENSP00000370262:A1006V	ENSP00000370257:A1009V	A	-	2	0	FREM1	14798009	0.127000	0.22367	0.703000	0.30354	0.413000	0.31143	0.776000	0.26704	-0.111000	0.12001	-0.388000	0.06559	GCG		0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		48	109	0	0	0	1	0	48	109				
CAPN10	11132	broad.mit.edu	37	2	241537381	241537381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241537381G>A	ENST00000391984.2	+	10	2016	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	CAPN10_ENST00000354082.4_Missense_Mutation_p.R452H|CAPN10_ENST00000404753.3_Missense_Mutation_p.R607H|CAPN10_ENST00000352879.4_Missense_Mutation_p.R73H|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	607	Domain III 2.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTGCCACATCGCTACGCCCAG	0.667																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1819-1821)cGc>cAc		calpain 10							30.0	29.0	29.0					2																	241537381		2203	4300	6503	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241537381G>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1820G>A	2.37:g.241537381G>A	ENSP00000375844:p.Arg607His					CAPN10_ENST00000354082.4_Missense_Mutation_p.R452H|CAPN10_ENST00000352879.4_Missense_Mutation_p.R73H|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R607H	p.R607H	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	10	2016	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	607			Domain III 2.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1820G>A	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954831	0.53293	.	.	ENSG00000142330	ENST00000391984;ENST00000404753;ENST00000352879;ENST00000354082	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.26	4.26	0.50523	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.198606	0.44688	D	0.000440	D	0.90553	0.7039	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.958;0.995	P;D;B;P	0.62955	0.836;0.909;0.424;0.836	D	0.90374	0.4383	10	0.44086	T	0.13	.	14.1633	0.65461	0.0:0.0:1.0:0.0	.	607;73;452;607	B7WPF5;Q9HC96-8;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	H	607;607;73;452	ENSP00000375844:R607H;ENSP00000384422:R607H;ENSP00000289381:R73H;ENSP00000270362:R452H	ENSP00000289381:R73H	R	+	2	0	CAPN10	241186054	1.000000	0.71417	0.792000	0.32020	0.131000	0.20780	5.551000	0.67274	1.912000	0.55364	0.655000	0.94253	CGC		0.667	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		10	9	0	0	0	1	0	10	9				
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39425374G>A	ENST00000216099.8	+	5	1019	c.612G>A	c.(610-612)ccG>ccA	p.P204P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.P204P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	204					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(610-612)ccG>ccA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							106.0	95.0	98.0					22																	39425374		1568	3582	5150	SO:0001819	synonymous_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39425374G>A	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.612G>A	22.37:g.39425374G>A						APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.P204P	p.P204P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			5	1019	+	Melanoma(58;0.04)		204					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	c.612G>A	CCDS46709.1																																																																																				0.522	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		19	64	0	0	0	1	0	19	64				
KIAA0368	23392	broad.mit.edu	37	9	114190321	114190321	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114190321C>T	ENST00000338205.5	-	9	1270		c.e9+1		KIAA0368_ENST00000259335.4_Splice_Site			Q5VYK3	ECM29_HUMAN	KIAA0368						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAACAAATTACCTGAATGTTG	0.408																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.e11+1		KIAA0368							67.0	64.0	65.0					9																	114190321		1840	4086	5926	SO:0001630	splice_region_variant	23392							g.chr9:114190321C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1050+1G>A	9.37:g.114190321C>T						KIAA0368_ENST00000338205.5_Splice_Site		NM_001080398.1	NP_001073867.1					11	1584	-								O15074|Q8WU82	Splice_Site	SNP	ENST00000338205.5	37			.	.	.	.	.	.	.	.	.	.	C	28.9	4.957910	0.92726	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6115	0.95608	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0368	113230142	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.196000	0.77805	2.631000	0.89168	0.563000	0.77884	.		0.408	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	Intron	15	13	0	0	0	1	0	15	13				
S100A13	6284	broad.mit.edu	37	1	153598926	153598926	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153598926T>G	ENST00000392623.1	-	2	213	c.23A>C	c.(22-24)gAg>gCg	p.E8A	S100A1_ENST00000368696.3_5'Flank|S100A13_ENST00000368699.1_Missense_Mutation_p.E8A|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000392622.1_Missense_Mutation_p.E8A|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Missense_Mutation_p.E8A|S100A13_ENST00000440685.2_Missense_Mutation_p.E8A|S100A1_ENST00000292169.1_5'Flank|RP1-178F15.5_ENST00000497086.1_RNA	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	8					cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	CTCCTCTAGCTCTGTCAGTGG	0.557																																					NSCLC(156;1296 1989 17590 30930 49554)	ENST00000368699.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7						c.(22-24)gAg>gCg		S100 calcium binding protein A13	Amlexanox(DB01025)						152.0	141.0	145.0					1																	153598926		2203	4300	6503	SO:0001583	missense	6284				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	g.chr1:153598926T>G	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"""S100 calcium binding proteins"""	10490	protein-coding gene	gene with protein product		601989	"""S100 calcium-binding protein A13"""			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.23A>C	1.37:g.153598926T>G	ENSP00000376399:p.Glu8Ala					S100A13_ENST00000339556.4_Missense_Mutation_p.E8A|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Missense_Mutation_p.E8A|S100A13_ENST00000392623.1_Missense_Mutation_p.E8A|S100A13_ENST00000440685.2_Missense_Mutation_p.E8A	p.E8A	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	526	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		8					Q52PI9|Q6FGF8	Missense_Mutation	SNP	ENST00000392623.1	37	c.23A>C	CCDS30874.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482502	0.44147	.	.	ENSG00000189171	ENST00000339556;ENST00000368699;ENST00000440685;ENST00000392623;ENST00000392622	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.02	5.02	0.67125	EF-hand-like domain (1);	0.412781	0.22855	N	0.054820	T	0.26340	0.0643	.	.	.	0.39331	D	0.965418	D	0.63880	0.993	D	0.74674	0.984	T	0.02668	-1.1126	9	0.56958	D	0.05	.	12.6917	0.56978	0.0:0.0:0.0:1.0	.	8	Q99584	S10AD_HUMAN	A	8	ENSP00000344822:E8A;ENSP00000357688:E8A;ENSP00000392767:E8A;ENSP00000376399:E8A;ENSP00000376398:E8A	ENSP00000344822:E8A	E	-	2	0	S100A13	151865550	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	2.974000	0.49272	1.899000	0.54978	0.459000	0.35465	GAG		0.557	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979		16	72	0	0	0	1	0	16	72				
ZNF112	7771	broad.mit.edu	37	19	44832308	44832308	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44832308A>T	ENST00000337401.4	-	5	2108	c.2020T>A	c.(2020-2022)Ttc>Atc	p.F674I	ZNF112_ENST00000536500.1_Missense_Mutation_p.F691I|ZNF112_ENST00000354340.4_Missense_Mutation_p.F668I	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GCCTTACTGAAGCCTTTACCA	0.448																																						ENST00000354340.4																			0											c.(2002-2004)Ttc>Atc		zinc finger protein 112							85.0	81.0	83.0					19																	44832308		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832308A>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2020T>A	19.37:g.44832308A>T	ENSP00000337081:p.Phe674Ile					ZNF112_ENST00000536500.1_Missense_Mutation_p.F691I|ZNF112_ENST00000337401.4_Missense_Mutation_p.F674I	p.F668I	NM_013380.3	NP_037512.3					4	2053	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2002T>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454625	0.84209	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.47528	0.84;0.84;0.84	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003045	T	0.75796	0.3898	M	0.94021	3.485	0.44702	D	0.997696	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.82880	-0.0238	10	0.87932	D	0	-16.3226	13.9854	0.64331	1.0:0.0:0.0:0.0	.	673;691;674	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	I	674;674;668;691;673	ENSP00000337081:F674I;ENSP00000346305:F668I;ENSP00000441990:F691I	ENSP00000253426:F673I	F	-	1	0	ZNF285	49524148	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.644000	0.91044	2.010000	0.58986	0.533000	0.62120	TTC		0.448	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		5	103	0	0	0	1	0	5	103				
NUP153	9972	broad.mit.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(2683-2685)tcG>tcA		nucleoporin 153kDa							62.0	67.0	65.0					6																	17629745		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629745C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2685G>A	6.37:g.17629745C>T						NUP153_ENST00000537253.1_Silent_p.S926S	p.S895S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	2684	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	895					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.2685G>A	CCDS4541.1																																																																																				0.388	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			5	79	0	0	0	1	0	5	79				
UBR5	51366	broad.mit.edu	37	8	103312351	103312351	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312351A>G	ENST00000520539.1	-	23	3589	c.2983T>C	c.(2983-2985)Tcg>Ccg	p.S995P	UBR5_ENST00000521922.1_Missense_Mutation_p.S989P|UBR5_ENST00000220959.4_Missense_Mutation_p.S995P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	995					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTCTCAACGAACGTCTCATC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2983-2985)Tcg>Ccg		ubiquitin protein ligase E3 component n-recognin 5							114.0	106.0	109.0					8																	103312351		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103312351A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2983T>C	8.37:g.103312351A>G	ENSP00000429084:p.Ser995Pro					UBR5_ENST00000220959.4_Missense_Mutation_p.S995P|UBR5_ENST00000521922.1_Missense_Mutation_p.S989P	p.S995P	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		23	3589	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		995					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2983T>C	CCDS34933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.25|16.25	3.069154|3.069154	0.55539|0.55539	.|.	.|.	ENSG00000104517|ENSG00000104517	ENST00000520898;ENST00000519365|ENST00000520539;ENST00000220959;ENST00000521922	.|T;T;T	.|0.48201	.|0.82;0.82;0.82	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45531	.|0.86;0.86	.|P;P	.|0.52217	.|0.693;0.693	T|T	0.50233|0.50233	-0.8852|-0.8852	5|10	.|0.48119	.|T	.|0.1	.|.	15.3503|15.3503	0.74380|0.74380	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|989;995	.|E7EMW7;O95071	.|.;UBR5_HUMAN	S|P	84;110|995;995;989	.|ENSP00000429084:S995P;ENSP00000220959:S995P;ENSP00000427819:S989P	.|ENSP00000220959:S995P	F|S	-|-	2|1	0|0	UBR5|UBR5	103381527|103381527	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.996000|0.996000	0.88848|0.88848	8.678000|8.678000	0.91211|0.91211	2.159000|2.159000	0.67721|0.67721	0.477000|0.477000	0.44152|0.44152	TTC|TCG		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		14	107	0	0	0	1	0	14	107				
MTOR	2475	broad.mit.edu	37	1	11182139	11182139	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11182139A>T	ENST00000361445.4	-	48	6783	c.6707T>A	c.(6706-6708)cTc>cAc	p.L2236H	MTOR_ENST00000376838.1_Missense_Mutation_p.L441H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2236	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCAGCCAATGAGGCCCGAGTT	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6706-6708)cTc>cAc		mechanistic target of rapamycin (serine/threonine kinase)							129.0	124.0	126.0					1																	11182139		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11182139A>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6707T>A	1.37:g.11182139A>T	ENSP00000354558:p.Leu2236His					MTOR_ENST00000376838.1_Missense_Mutation_p.L441H	p.L2236H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			48	6783	-			2236			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6707T>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676567	0.88445	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.84730	-1.89;-1.89	5.36	5.36	0.76844	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98362	1.0549	10	0.87932	D	0	-12.1781	15.3768	0.74610	1.0:0.0:0.0:0.0	.	2236	P42345	MTOR_HUMAN	H	2236;441	ENSP00000354558:L2236H;ENSP00000366034:L441H	ENSP00000354558:L2236H	L	-	2	0	MTOR	11104726	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.862000	0.92283	2.030000	0.59900	0.528000	0.53228	CTC		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		23	20	0	0	0	1	0	23	20				
SYT6	148281	broad.mit.edu	37	1	114682286	114682286	+	Missense_Mutation	SNP	G	G	A	rs144510124	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114682286G>A	ENST00000610222.1	-	2	609	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	SYT6_ENST00000393296.1_Missense_Mutation_p.R155C|SYT6_ENST00000609117.1_Missense_Mutation_p.R70C|SYT6_ENST00000607941.1_Missense_Mutation_p.R70C|SYT6_ENST00000369547.1_Missense_Mutation_p.R70C			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGTGTGACGCATGATGTGC	0.627													G|||	18	0.00359425	0.0	0.0	5008	,	,		17696	0.001		0.0	False		,,,				2504	0.0174					ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(463-465)Cgt>Tgt		synaptotagmin VI		G	CYS/ARG	0,4406		0,0,2203	101.0	80.0	87.0		208	5.5	1.0	1	dbSNP_134	87	11,8589	8.4+/-32.0	0,11,4289	yes	missense	SYT6	NM_205848.2	180	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging	70/426	114682286	11,12995	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114682286G>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.463C>T	1.37:g.114682286G>A	ENSP00000476396:p.Arg155Cys					SYT6_ENST00000369547.1_Missense_Mutation_p.R70C	p.R155C			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	540	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	155					B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.463C>T		.	.	.	.	.	.	.	.	.	.	G	23.4	4.416096	0.83449	0.0	0.001279	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;1.37;0.79	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.55871	0.786	T	0.67233	-0.5722	10	0.72032	D	0.01	.	15.0459	0.71827	0.0:0.0:0.8574:0.1426	.	155	Q5T7P8	SYT6_HUMAN	C	70;155;70;155;70;70	ENSP00000358560:R70C;ENSP00000376974:R155C;ENSP00000358559:R70C;ENSP00000358558:R155C;ENSP00000412443:R70C;ENSP00000389266:R70C	ENSP00000358558:R155C	R	-	1	0	SYT6	114483809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.826000	0.55738	2.583000	0.87209	0.655000	0.94253	CGT		0.627	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		4	49	0	0	0	1	0	4	49				
SLX4	84464	broad.mit.edu	37	16	3639670	3639670	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3639670T>C	ENST00000294008.3	-	12	4609	c.3969A>G	c.(3967-3969)tcA>tcG	p.S1323S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1323	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGTGAGGCATGAGGACGGTG	0.637								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3967-3969)tcA>tcG	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							183.0	183.0	183.0					16																	3639670		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639670T>C	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3969A>G	16.37:g.3639670T>C							p.S1323S	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4609	-			1323			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.3969A>G	CCDS10506.2																																																																																				0.637	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		22	135	0	0	0	1	0	22	135				
PDXDC1	23042	broad.mit.edu	37	16	15103568	15103568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15103568G>T	ENST00000396410.4	+	8	776	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	PDXDC1_ENST00000535621.2_Missense_Mutation_p.D227Y|PDXDC1_ENST00000455313.2_Missense_Mutation_p.D204Y|PDXDC1_ENST00000569715.1_Missense_Mutation_p.D200Y|PDXDC1_ENST00000450288.2_Missense_Mutation_p.D199Y|PDXDC1_ENST00000563679.1_Missense_Mutation_p.D245Y|PDXDC1_ENST00000325823.7_Missense_Mutation_p.D212Y|PDXDC1_ENST00000447912.2_Missense_Mutation_p.D136Y|MIR1972-1_ENST00000459337.1_RNA	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	227					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTGATTAAAGATGATATAGA	0.388																																						ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(679-681)Gat>Tat		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						63.0	74.0	70.0					16																	15103568		2197	4297	6494	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15103568G>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.679G>T	16.37:g.15103568G>T	ENSP00000379691:p.Asp227Tyr					PDXDC1_ENST00000535621.2_Missense_Mutation_p.D227Y|PDXDC1_ENST00000455313.2_Missense_Mutation_p.D204Y|PDXDC1_ENST00000569715.1_Missense_Mutation_p.D200Y|PDXDC1_ENST00000447912.2_Missense_Mutation_p.D136Y|PDXDC1_ENST00000563679.1_Missense_Mutation_p.D245Y|PDXDC1_ENST00000325823.7_Missense_Mutation_p.D212Y|PDXDC1_ENST00000450288.2_Missense_Mutation_p.D199Y	p.D227Y	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			8	776	+			227					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.679G>T	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570596	0.86542	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.45	5.45	0.79879	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.261229	0.43579	D	0.000553	T	0.59742	0.2216	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P;P	0.50066	0.919;0.931;0.724;0.919;0.919;0.889	P;P;P;P;P;P	0.59761	0.863;0.83;0.766;0.863;0.863;0.725	T	0.61292	-0.7092	10	0.72032	D	0.01	-18.0313	18.2535	0.90011	0.0:0.0:1.0:0.0	.	199;136;227;199;227;204	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	Y	212;136;227;227;199;204	ENSP00000322807:D212Y;ENSP00000400310:D136Y;ENSP00000437835:D227Y;ENSP00000379691:D227Y;ENSP00000391147:D199Y;ENSP00000406703:D204Y	ENSP00000322807:D212Y	D	+	1	0	PDXDC1	15011069	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.851000	0.92205	2.545000	0.85829	0.455000	0.32223	GAT		0.388	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		5	119	1	0	0.0215528	1	0.0221649	5	119				
NCF1	653361	broad.mit.edu	37	7	74191612	74191612	+	Splice_Site	SNP	G	G	T	rs273585651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74191612G>T	ENST00000289473.4	+	2	142		c.e2-1		NCF1_ENST00000443956.3_Splice_Site	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CTTTCCCCCAGGTGTACATGT	0.587																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.e2-1		neutrophil cytosolic factor 1							65.0	66.0	66.0					7																	74191612		2203	4300	6503	SO:0001630	splice_region_variant	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74191612G>T	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.73-1G>T	7.37:g.74191612G>T						NCF1_ENST00000443956.3_Splice_Site		NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN			2	142	+								A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Splice_Site	SNP	ENST00000289473.4	37		CCDS34657.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617875	0.46736	.	.	ENSG00000158517	ENST00000289473;ENST00000433458	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7477	0.85477	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCF1	73829548	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	7.015000	0.76387	2.288000	0.76882	0.436000	0.28706	.		0.587	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265	Intron	7	59	1	0	0.0477658	1	0.0488009	7	59				
LAMA2	3908	broad.mit.edu	37	6	129571302	129571302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129571302C>A	ENST00000421865.2	+	13	1877	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	610	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCATATGACCTTGAAGAAGA	0.413																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(1828-1830)Ctt>Att		laminin, alpha 2							185.0	163.0	171.0					6																	129571302		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129571302C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1828C>A	6.37:g.129571302C>A	ENSP00000400365:p.Leu610Ile						p.L610I	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	13	1877	+			610			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1828C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.288098	0.01387	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34275	1.37	5.69	1.38	0.22167	Laminin B type IV (2);Laminin B, subgroup (1);	0.401159	0.25997	N	0.026980	T	0.04137	0.0115	N	0.21142	0.635	0.25190	N	0.990138	B;B	0.31125	0.309;0.309	B;B	0.28232	0.087;0.087	T	0.38585	-0.9654	10	0.02654	T	1	.	1.5356	0.02544	0.1413:0.4397:0.1375:0.2814	.	610;610	A6NF00;P24043	.;LAMA2_HUMAN	I	610	ENSP00000400365:L610I	ENSP00000346769:L610I	L	+	1	0	LAMA2	129612995	0.420000	0.25457	0.698000	0.30274	0.574000	0.36063	-0.079000	0.11357	0.258000	0.21686	-0.127000	0.14921	CTT		0.413	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			9	86	1	0	2.27111e-07	1	2.66951e-07	9	86				
TDRD7	23424	broad.mit.edu	37	9	100222971	100222971	+	Missense_Mutation	SNP	C	C	A	rs17852595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100222971C>A	ENST00000355295.4	+	7	1662	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H	TDRD7_ENST00000422139.2_Missense_Mutation_p.P382H	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	456			P -> L (in dbSNP:rs17852595). {ECO:0000269|PubMed:15489334}.		germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACAGTTCCTCCTTTAATGATT	0.368																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1366-1368)cCt>cAt		tudor domain containing 7							71.0	71.0	71.0					9																	100222971		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100222971C>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1367C>A	9.37:g.100222971C>A	ENSP00000347444:p.Pro456His					TDRD7_ENST00000422139.2_Missense_Mutation_p.P382H	p.P456H	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			7	1662	+		Acute lymphoblastic leukemia(62;0.158)	456		P -> L (in dbSNP:rs17852595).			A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1367C>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390453	0.82902	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.15256	2.45;2.44	5.59	5.59	0.84812	.	0.143965	0.64402	D	0.000005	T	0.39708	0.1088	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.01561	-1.1324	10	0.42905	T	0.14	-11.7068	18.5365	0.91013	0.0:1.0:0.0:0.0	.	456	Q8NHU6	TDRD7_HUMAN	H	456;382	ENSP00000347444:P456H;ENSP00000413608:P382H	ENSP00000347444:P456H	P	+	2	0	TDRD7	99262792	1.000000	0.71417	0.857000	0.33713	0.994000	0.84299	4.987000	0.63857	2.791000	0.96007	0.655000	0.94253	CCT		0.368	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		29	29	1	0	4.22769e-11	1	5.25533e-11	29	29				
CCNL2	81669	broad.mit.edu	37	1	1334048	1334048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1334048C>T	ENST00000400809.3	-	2	297	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_Missense_Mutation_p.A98T|RP4-758J18.2_ENST00000444362.1_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	98	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTAGCCATGGCCACCTAGAGT	0.517																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(292-294)Gcc>Acc		cyclin L2							91.0	102.0	98.0					1																	1334048		2203	4297	6500	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1334048C>T	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.292G>A	1.37:g.1334048C>T	ENSP00000383611:p.Ala98Thr					CCNL2_ENST00000408918.4_Missense_Mutation_p.A98T	p.A98T	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	2	297	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	98			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.292G>A	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702347	0.96812	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.34859	1.34;1.34	5.05	5.05	0.67936	Cyclin, N-terminal (1);Cyclin-like (3);	0.082130	0.50627	D	0.000109	T	0.47746	0.1462	L	0.42632	1.34	0.80722	D	1	P;D;D	0.71674	0.725;0.977;0.998	P;P;D	0.78314	0.781;0.763;0.991	T	0.32268	-0.9913	10	0.02654	T	1	.	17.3877	0.87421	0.0:1.0:0.0:0.0	.	98;98;98	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	T	98	ENSP00000383611:A98T;ENSP00000386158:A98T	ENSP00000383611:A98T	A	-	1	0	CCNL2	1323911	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.455000	0.80726	2.364000	0.80123	0.655000	0.94253	GCC		0.517	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		10	28	0	0	0	1	0	10	28				
SLC4A3	6508	broad.mit.edu	37	2	220493264	220493264	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220493264C>T	ENST00000358055.3	+	3	701	c.189C>T	c.(187-189)agC>agT	p.S63S	SLC4A3_ENST00000373760.2_Silent_p.S63S|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Silent_p.S63S|SLC4A3_ENST00000317151.3_Silent_p.S63S|SLC4A3_ENST00000373762.3_Silent_p.S63S|AC009955.8_ENST00000455896.1_RNA			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	63					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGCCCAGCCGCAGCTACA	0.657																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(187-189)agC>agT		solute carrier family 4 (anion exchanger), member 3							32.0	37.0	35.0					2																	220493264		2203	4299	6502	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220493264C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.189C>T	2.37:g.220493264C>T						SLC4A3_ENST00000373760.2_Silent_p.S63S|SLC4A3_ENST00000317151.3_Silent_p.S63S|SLC4A3_ENST00000273063.6_Silent_p.S63S|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.S63S	p.S63S			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	701	+		Renal(207;0.0183)	63					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.189C>T	CCDS2445.1																																																																																				0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	19	0	0	0	1	0	4	19				
C9orf50	375759	broad.mit.edu	37	9	132374652	132374652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132374652C>T	ENST00000372478.4	-	7	1471	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	424										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TGCAGTGTTGCGGAGGCCAGG	0.602																																						ENST00000372478.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1270-1272)Gca>Aca		chromosome 9 open reading frame 50							90.0	66.0	74.0					9																	132374652		2203	4300	6503	SO:0001583	missense	375759							g.chr9:132374652C>T	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1270G>A	9.37:g.132374652C>T	ENSP00000361556:p.Ala424Thr					NTMT1_ENST00000372486.1_Intron	p.A424T	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN			7	1471	-		Ovarian(14;0.00556)	424					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1270G>A	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.421112	0.01126	.	.	ENSG00000179058	ENST00000372478	T	0.19532	2.14	3.5	-7.01	0.01594	.	0.988232	0.08203	N	0.981973	T	0.06096	0.0158	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40001	-0.9586	10	0.02654	T	1	1.6761	9.1226	0.36797	0.0:0.6176:0.1296:0.2528	.	424	Q5SZB4	CI050_HUMAN	T	424	ENSP00000361556:A424T	ENSP00000361556:A424T	A	-	1	0	C9orf50	131414473	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.979000	0.00663	-1.795000	0.01255	-2.205000	0.00302	GCA		0.602	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		10	24	0	0	0	1	0	10	24				
PCDHA10	56139	broad.mit.edu	37	5	140236494	140236494	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140236494G>A	ENST00000307360.5	+	1	861	c.861G>A	c.(859-861)acG>acA	p.T287T	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T287T|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCACCCACGATAAGAAGGA	0.363																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(859-861)acG>acA									70.0	69.0	69.0					5																	140236494		2196	4269	6465	SO:0001819	synonymous_variant	0							g.chr5:140236494G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.861G>A	5.37:g.140236494G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T287T|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.T287T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	861	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.861G>A	CCDS54921.1																																																																																				0.363	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		32	52	0	0	0	1	0	32	52				
EBNA1BP2	10969	broad.mit.edu	37	1	43636428	43636428	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43636428T>G	ENST00000236051.2	-	4	587	c.446A>C	c.(445-447)aAg>aCg	p.K149T	WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_Splice_Site_p.K204T	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	149					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTCTTACCTTCTGCATCTG	0.453																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.e5+1		EBNA1 binding protein 2							132.0	134.0	134.0					1																	43636428		2203	4300	6503	SO:0001630	splice_region_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636428T>G	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.447+1A>C	1.37:g.43636428T>G						EBNA1BP2_ENST00000236051.2_Splice_Site_p.K149_splice	p.K204_splice	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			5	759	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	149					Q96A66	Splice_Site	SNP	ENST00000236051.2	37	c.612_splice	CCDS478.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256831	0.80246	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.57273	0.41;0.41	5.47	5.47	0.80525	.	0.088169	0.85682	D	0.000000	T	0.74419	0.3714	M	0.93462	3.42	0.80722	D	1	P;P	0.48230	0.907;0.907	P;P	0.52823	0.71;0.71	T	0.82293	-0.0529	10	0.87932	D	0	-14.1642	15.8518	0.78937	0.0:0.0:0.0:1.0	.	149;149	Q6IB29;Q99848	.;EBP2_HUMAN	T	204;149	ENSP00000407323:K204T;ENSP00000236051:K149T	ENSP00000236051:K149T	K	-	2	0	EBNA1BP2	43409015	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.538000	0.82048	2.216000	0.71823	0.528000	0.53228	AAG		0.453	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1		Missense_Mutation	58	103	0	0	0	1	0	58	103				
FBXO39	162517	broad.mit.edu	37	17	6683425	6683425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683425T>C	ENST00000321535.4	+	2	368	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	80										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GTCAGCTGTTTGGTATGTTAA	0.478																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(238-240)Tgg>Cgg		F-box protein 39							150.0	144.0	146.0					17																	6683425		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683425T>C	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.238T>C	17.37:g.6683425T>C	ENSP00000321386:p.Trp80Arg						p.W80R	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	368	+			80						Missense_Mutation	SNP	ENST00000321535.4	37	c.238T>C	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.927418	0.34002	.	.	ENSG00000177294	ENST00000321535	T	0.11277	2.79	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000009	T	0.19327	0.0464	L	0.29908	0.895	0.44985	D	0.998002	D	0.71674	0.998	D	0.80764	0.994	T	0.04723	-1.0931	10	0.24483	T	0.36	-18.5371	12.1419	0.54002	0.0:0.0:0.0:1.0	.	80	Q8N4B4	FBX39_HUMAN	R	80	ENSP00000321386:W80R	ENSP00000321386:W80R	W	+	1	0	FBXO39	6624149	1.000000	0.71417	0.967000	0.41034	0.701000	0.40568	5.198000	0.65147	2.194000	0.70268	0.459000	0.35465	TGG		0.478	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		7	131	0	0	0	1	0	7	131				
NEB	4703	broad.mit.edu	37	2	152476093	152476093	+	Missense_Mutation	SNP	C	C	T	rs139798654	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152476093C>T	ENST00000172853.10	-	69	10162	c.10015G>A	c.(10015-10017)Gtt>Att	p.V3339I	NEB_ENST00000409198.1_Missense_Mutation_p.V3339I|NEB_ENST00000604864.1_Missense_Mutation_p.V3582I|NEB_ENST00000603639.1_Missense_Mutation_p.V3582I|NEB_ENST00000427231.2_Missense_Mutation_p.V3582I|NEB_ENST00000397345.3_Missense_Mutation_p.V3582I			P20929	NEBU_HUMAN	nebulin	3339					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGCCAAAACGATACCAAGC	0.478													C|||	21	0.00419329	0.0151	0.0014	5008	,	,		21536	0.0		0.0	False		,,,				2504	0.0					ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10744-10746)Gtt>Att		nebulin		C	ILE/VAL,ILE/VAL,ILE/VAL	24,4038		0,24,2007	153.0	150.0	151.0		10744,10744,10015	4.7	0.4	2	dbSNP_134	151	0,8402		0,0,4201	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,24,6208	TT,TC,CC		0.0,0.5908,0.1926	possibly-damaging,possibly-damaging,possibly-damaging	3582/8526,3582/8526,3339/6670	152476093	24,12440	2031	4201	6232	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152476093C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10015G>A	2.37:g.152476093C>T	ENSP00000172853:p.Val3339Ile					NEB_ENST00000409198.1_Missense_Mutation_p.V3339I|NEB_ENST00000397345.3_Missense_Mutation_p.V3582I|NEB_ENST00000603639.1_Missense_Mutation_p.V3582I|NEB_ENST00000604864.1_Missense_Mutation_p.V3582I|NEB_ENST00000172853.10_Missense_Mutation_p.V3339I	p.V3582I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	10946	-			3582					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10744G>A		6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	19.15	3.771068	0.69992	0.005908	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.61	4.71	0.59529	.	0.217000	0.36665	N	0.002471	T	0.27063	0.0663	M	0.80982	2.52	0.80722	D	1	P	0.37612	0.602	B	0.32864	0.154	T	0.19451	-1.0305	10	0.40728	T	0.16	.	6.1315	0.20207	0.1405:0.6531:0.1354:0.071	.	3339	P20929	NEBU_HUMAN	I	3339;3582;3582;3339	ENSP00000386259:V3339I;ENSP00000380505:V3582I;ENSP00000416578:V3582I;ENSP00000172853:V3339I	ENSP00000172853:V3339I	V	-	1	0	NEB	152184339	0.540000	0.26410	0.401000	0.26359	0.978000	0.69477	1.592000	0.36676	1.456000	0.47831	0.655000	0.94253	GTT		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		33	36	0	0	0	1	0	33	36				
SIM2	6493	broad.mit.edu	37	21	38095361	38095361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38095361G>T	ENST00000290399.6	+	5	1086	c.473G>T	c.(472-474)aGg>aTg	p.R158M	SIM2_ENST00000430056.3_Missense_Mutation_p.R158M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	158					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GAGATAGAGAGGTCGTTCTTT	0.557																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(472-474)aGg>aTg		single-minded family bHLH transcription factor 2							147.0	130.0	136.0					21																	38095361		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38095361G>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.473G>T	21.37:g.38095361G>T	ENSP00000290399:p.Arg158Met					SIM2_ENST00000430056.3_Missense_Mutation_p.R158M	p.R158M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			5	1086	+			158					O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.473G>T	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809363|4.809363	0.90707|0.90707	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	T|T;T	0.74842|0.35421	-0.88|1.31;1.31	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70937|0.70937	0.3281|0.3281	M|M	0.93854|0.93854	3.465|3.465	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.79391|0.79391	-0.1823|-0.1823	7|10	0.41790|0.59425	T|D	0.15|0.04	.|.	18.5719|18.5719	0.91138|0.91138	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;158	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	D|M	95|158	ENSP00000392003:E95D|ENSP00000290399:R158M;ENSP00000404176:R158M	ENSP00000392003:E95D|ENSP00000290399:R158M	E|R	+|+	3|2	2|0	SIM2|SIM2	37017231|37017231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	9.231000|9.231000	0.95317|0.95317	2.375000|2.375000	0.81037|0.81037	0.563000|0.563000	0.77884|0.77884	GAG|AGG		0.557	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		8	79	1	0	0.000442599	1	0.00048047	8	79				
FRMPD3	84443	broad.mit.edu	37	X	106819612	106819612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106819612G>A	ENST00000276185.4	+	14	1463	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	488	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGTACTGCCGCCTCTTGCTG	0.562																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(1462-1464)cGc>cAc		FERM and PDZ domain containing 3							188.0	171.0	176.0					X																	106819612		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106819612G>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.1463G>A	X.37:g.106819612G>A	ENSP00000276185:p.Arg488His						p.R488H			Q5JV73	FRPD3_HUMAN			14	1463	+			488			FERM.		Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.1463G>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046445	0.75846	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.16897	2.31;2.31	5.43	4.57	0.56435	.	0.059936	0.64402	D	0.000003	T	0.26882	0.0658	L	0.55743	1.74	0.33298	D	0.564379	.	.	.	.	.	.	T	0.39683	-0.9602	8	0.87932	D	0	.	10.8101	0.46543	0.0891:0.0:0.9109:0.0	.	.	.	.	H	488;436	ENSP00000276185:R488H;ENSP00000398668:R436H	ENSP00000276185:R488H	R	+	2	0	FRMPD3	106706268	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.598000	0.67585	1.076000	0.40961	0.600000	0.82982	CGC		0.562	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		53	74	0	0	0	1	0	53	74				
AMDHD1	144193	broad.mit.edu	37	12	96346512	96346512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96346512C>A	ENST00000266736.2	+	2	261	c.155C>A	c.(154-156)gCt>gAt	p.A52D		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	52					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TTTATAAAAGCTATTGGTCCT	0.318																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(154-156)gCt>gAt		amidohydrolase domain containing 1							72.0	77.0	75.0					12																	96346512		2203	4297	6500	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96346512C>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.155C>A	12.37:g.96346512C>A	ENSP00000266736:p.Ala52Asp						p.A52D	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			2	261	+			52					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.155C>A	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855542	0.32791	.	.	ENSG00000139344	ENST00000266736	T	0.52983	0.64	5.83	5.83	0.93111	Metal-dependent hydrolase, composite domain (1);	0.046311	0.85682	D	0.000000	T	0.43897	0.1268	L	0.48986	1.54	0.54753	D	0.99998	B	0.06786	0.001	B	0.06405	0.002	T	0.19712	-1.0297	10	0.35671	T	0.21	-20.9679	14.9081	0.70735	0.1432:0.8568:0.0:0.0	.	52	Q96NU7	HUTI_HUMAN	D	52	ENSP00000266736:A52D	ENSP00000266736:A52D	A	+	2	0	AMDHD1	94870643	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.656000	0.61483	2.765000	0.95021	0.555000	0.69702	GCT		0.318	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		18	51	1	0	3.41278e-10	1	4.19267e-10	18	51				
HS6ST2	90161	broad.mit.edu	37	X	132092321	132092321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092321G>A	ENST00000370836.2	-	2	725	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	HS6ST2_ENST00000370833.2_5'Flank|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R104C	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	104					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AGGTCCCAGCGTCGCCTGAGG	0.721																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(310-312)Cgc>Tgc		heparan sulfate 6-O-sulfotransferase 2							7.0	9.0	8.0					X																	132092321		1827	3991	5818	SO:0001583	missense	90161					integral to membrane	sulfotransferase activity	g.chrX:132092321G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.310C>T	X.37:g.132092321G>A	ENSP00000359873:p.Arg104Cys					HS6ST2_ENST00000521489.1_Missense_Mutation_p.R104C	p.R104C	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			2	725	-	Acute lymphoblastic leukemia(192;0.000127)		104					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	c.310C>T	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052501	0.55218	.	.	ENSG00000171004	ENST00000370836;ENST00000521489	T;T	0.75260	-0.9;-0.92	3.44	3.44	0.39384	.	.	.	.	.	T	0.70081	0.3183	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.973;0.982	T	0.73902	-0.3836	9	0.87932	D	0	.	9.4897	0.38951	0.0:0.0:1.0:0.0	.	104;104	Q96MM7;E9PDY5	H6ST2_HUMAN;.	C	104	ENSP00000359873:R104C;ENSP00000429473:R104C	ENSP00000359873:R104C	R	-	1	0	HS6ST2	.	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.214000	0.58527	1.981000	0.57761	0.600000	0.82982	CGC		0.721	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		3	9	0	0	0	1	0	3	9				
GDF9	2661	broad.mit.edu	37	5	132197653	132197653	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197653G>T	ENST00000378673.2	-	3	1859	c.993C>A	c.(991-993)ccC>ccA	p.P331P	GDF9_ENST00000296875.2_Silent_p.P331P|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGCCCAAGGGCTTCTTCA	0.488																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(991-993)ccC>ccA		growth differentiation factor 9							63.0	66.0	65.0					5																	132197653		2203	4300	6503	SO:0001819	synonymous_variant	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197653G>T		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.993C>A	5.37:g.132197653G>T						GDF9_ENST00000296875.2_Silent_p.P331P	p.P331P			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1859	-		all_cancers(142;0.105)|Breast(839;0.198)	331					Q4VAW5	Silent	SNP	ENST00000378673.2	37	c.993C>A	CCDS4162.1																																																																																				0.488	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		9	76	1	0	1.12685e-05	1	1.27857e-05	9	76				
DTX3L	151636	broad.mit.edu	37	3	122287567	122287567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122287567C>T	ENST00000296161.4	+	3	820	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	211					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGGAAGCCACTCAGTCAGCA	0.423																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(631-633)Ctc>Ttc		deltex 3-like (Drosophila)							71.0	70.0	71.0					3																	122287567		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287567C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.631C>T	3.37:g.122287567C>T	ENSP00000296161:p.Leu211Phe					DTX3L_ENST00000383661.3_Intron	p.L211F	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	820	+			211					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.631C>T	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723598	0.30593	.	.	ENSG00000163840	ENST00000296161	T	0.33438	1.41	5.5	-4.72	0.03269	.	3.577930	0.00597	N	0.000370	T	0.21347	0.0514	L	0.51422	1.61	0.09310	N	1	P	0.37398	0.593	B	0.30943	0.122	T	0.23655	-1.0182	10	0.56958	D	0.05	-17.3271	1.1118	0.01706	0.2638:0.1666:0.1202:0.4494	.	211	Q8TDB6	DTX3L_HUMAN	F	211	ENSP00000296161:L211F	ENSP00000296161:L211F	L	+	1	0	DTX3L	123770257	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.634000	0.05477	-0.613000	0.05694	-0.136000	0.14681	CTC		0.423	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		22	28	0	0	0	1	0	22	28				
TCTN2	79867	broad.mit.edu	37	12	124180977	124180977	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124180977A>C	ENST00000303372.5	+	12	1456	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	TCTN2_ENST00000426174.2_Missense_Mutation_p.K442T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	443					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAACTTGGCAAGCCTGTCCGA	0.438																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1327-1329)aAg>aCg		tectonic family member 2							155.0	130.0	138.0					12																	124180977		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124180977A>C	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1328A>C	12.37:g.124180977A>C	ENSP00000304941:p.Lys443Thr					TCTN2_ENST00000426174.2_Missense_Mutation_p.K442T	p.K443T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	12	1456	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		443					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.1328A>C	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934970	0.73442	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.84442	-1.85;-1.85	5.53	3.01	0.34805	Domain of unknown function DUF1619 (1);	0.188274	0.44097	D	0.000481	D	0.88713	0.6511	M	0.81682	2.555	0.33110	D	0.540416	D;D	0.59357	0.985;0.985	P;P	0.55923	0.787;0.787	D	0.89043	0.3450	10	0.48119	T	0.1	-21.9576	8.2997	0.32006	0.829:0.0:0.171:0.0	.	442;443	A8K7Y8;Q96GX1	.;TECT2_HUMAN	T	442;443	ENSP00000395171:K442T;ENSP00000304941:K443T	ENSP00000304941:K443T	K	+	2	0	TCTN2	122746930	0.961000	0.32948	1.000000	0.80357	0.971000	0.66376	0.351000	0.20096	0.326000	0.23384	0.456000	0.33151	AAG		0.438	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		35	50	0	0	0	1	0	35	50				
ADAM7	8756	broad.mit.edu	37	8	24324368	24324368	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24324368A>G	ENST00000175238.6	+	6	529	c.446A>G	c.(445-447)gAt>gGt	p.D149G	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D149G|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.D149G	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAATACTCAGATGAGGGAGAA	0.388																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(445-447)gAt>gGt		ADAM metallopeptidase domain 7							105.0	107.0	106.0					8																	24324368		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324368A>G	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.446A>G	8.37:g.24324368A>G	ENSP00000175238:p.Asp149Gly					ADAM7_ENST00000380789.1_Missense_Mutation_p.D149G|ADAM7_ENST00000441335.2_Missense_Mutation_p.D149G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.D149G	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	529	+		Prostate(55;0.0181)	149					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.446A>G	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620515	0.66787	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.05580	3.42;3.42;3.42	5.25	4.07	0.47477	Peptidase M12B, propeptide (1);	0.259532	0.27455	N	0.019297	T	0.18341	0.0440	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.905	T	0.00292	-1.1842	10	0.54805	T	0.06	.	8.9604	0.35842	0.8126:0.1874:0.0:0.0	.	149;149	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	G	149	ENSP00000393073:D149G;ENSP00000175238:D149G;ENSP00000370166:D149G	ENSP00000175238:D149G	D	+	2	0	ADAM7	24380258	0.996000	0.38824	0.976000	0.42696	0.869000	0.49853	1.693000	0.37742	0.984000	0.38629	0.459000	0.35465	GAT		0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		9	103	0	0	0	1	0	9	103				
CLEC16A	23274	broad.mit.edu	37	16	11219841	11219841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11219841C>A	ENST00000409790.1	+	22	2709	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M	CLEC16A_ENST00000409552.3_Missense_Mutation_p.L809M|CLEC16A_ENST00000381822.2_5'Flank	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGTAGCCCTCCTGGACCTCCC	0.607																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2479-2481)Ctg>Atg		C-type lectin domain family 16, member A							170.0	181.0	178.0					16																	11219841		1990	4166	6156	SO:0001583	missense	23274							g.chr16:11219841C>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2479C>A	16.37:g.11219841C>A	ENSP00000387122:p.Leu827Met					CLEC16A_ENST00000409552.3_Missense_Mutation_p.L809M	p.L827M	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			22	2709	+			827						Missense_Mutation	SNP	ENST00000409790.1	37	c.2479C>A	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.772614|3.772614	0.69992|0.69992	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552;ENST00000436973|ENST00000261657	T|.	0.70986|.	-0.53|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75554|0.75554	0.3865|0.3865	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|T	0.76506|0.76506	-0.2934|-0.2934	10|5	0.87932|.	D|.	0|.	-13.9085|-13.9085	12.4654|12.4654	0.55755|0.55755	0.0:0.9239:0.0:0.0761|0.0:0.9239:0.0:0.0761	.|.	827;809|.	Q2KHT3;Q2KHT3-2|.	CL16A_HUMAN;.|.	M|H	827;827;809;20|18	ENSP00000387122:L827M|.	ENSP00000386495:L809M|.	L|P	+|+	1|2	2|0	CLEC16A|CLEC16A	11127342|11127342	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.827000|0.827000	0.46813|0.46813	2.112000|2.112000	0.41892|0.41892	2.763000|2.763000	0.94921|0.94921	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.607	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		24	231	1	0	2.79863e-10	1	3.44159e-10	24	231				
BIRC6	57448	broad.mit.edu	37	2	32740275	32740275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32740275C>T	ENST00000421745.2	+	55	10921	c.10787C>T	c.(10786-10788)tCt>tTt	p.S3596F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3596					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGATGACTCTAAAAATGCA	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10786-10788)tCt>tTt		baculoviral IAP repeat containing 6							117.0	116.0	116.0					2																	32740275		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740275C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10787C>T	2.37:g.32740275C>T	ENSP00000393596:p.Ser3596Phe						p.S3596F	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			55	10921	+	Acute lymphoblastic leukemia(172;0.155)		3596					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10787C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619185	0.66787	.	.	ENSG00000115760	ENST00000421745	T	0.76186	-1.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.84354	0.0534	10	0.72032	D	0.01	.	19.7934	0.96469	0.0:1.0:0.0:0.0	.	3596	Q9NR09	BIRC6_HUMAN	F	3596	ENSP00000393596:S3596F	ENSP00000393596:S3596F	S	+	2	0	BIRC6	32593779	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.769000	0.68865	2.678000	0.91216	0.585000	0.79938	TCT		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		17	35	0	0	0	1	0	17	35				
ESYT3	83850	broad.mit.edu	37	3	138189867	138189867	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138189867G>A	ENST00000389567.4	+	17	1925	c.1739G>A	c.(1738-1740)cGg>cAg	p.R580Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	580					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGTGCTTCGGGTAAATCTC	0.592																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.e17+1		extended synaptotagmin-like protein 3							66.0	66.0	66.0					3																	138189867		1910	4133	6043	SO:0001630	splice_region_variant	83850					integral to membrane|plasma membrane		g.chr3:138189867G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1740+1G>A	3.37:g.138189867G>A							p.R580_splice	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			17	1925	+			580					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Splice_Site	SNP	ENST00000389567.4	37	c.1740_splice	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835369	0.91117	.	.	ENSG00000158220	ENST00000389567	T	0.72282	-0.64	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	D	0.82421	0.5033	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84130	0.0411	10	0.66056	D	0.02	-12.8714	13.0591	0.58997	0.0:0.0:1.0:0.0	.	580	A0FGR9	ESYT3_HUMAN	Q	580	ENSP00000374218:R580Q	ENSP00000374218:R580Q	R	+	2	0	ESYT3	139672557	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.357000	0.73051	2.447000	0.82792	0.561000	0.74099	CGG		0.592	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	Missense_Mutation	8	68	0	0	0	1	0	8	68				
LGI2	55203	broad.mit.edu	37	4	25005147	25005147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005147C>A	ENST00000382114.4	-	8	1749	c.1564G>T	c.(1564-1566)Gat>Tat	p.D522Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	522						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAAAAGAAATCTCTCCTGTCG	0.393																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1564-1566)Gat>Tat		leucine-rich repeat LGI family, member 2							75.0	80.0	78.0					4																	25005147		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005147C>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1564G>T	4.37:g.25005147C>A	ENSP00000371548:p.Asp522Tyr						p.D522Y	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1749	-		Breast(46;0.173)	522					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1564G>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518051	0.64634	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	T	0.80653	-1.4	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.66939	2.045	0.80722	D	1	D	0.59357	0.985	D	0.64321	0.924	D	0.88482	0.3069	10	0.56958	D	0.05	-24.5561	19.5537	0.95331	0.0:1.0:0.0:0.0	.	522	Q8N0V4	LGI2_HUMAN	Y	522;170	ENSP00000371548:D522Y	ENSP00000282970:D170Y	D	-	1	0	LGI2	24614245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.767000	0.55288	2.614000	0.88457	0.557000	0.71058	GAT		0.393	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			5	48	1	0	0.000602214	1	0.000649039	5	48				
RPN2	6185	broad.mit.edu	37	20	35812582	35812582	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35812582G>T	ENST00000237530.6	+	2	324		c.e2-1		RPN2_ENST00000373622.5_Splice_Site	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II						aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TTCCCCCCAAGGTTCAAGCAC	0.502																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.e2-1		ribophorin II							139.0	100.0	113.0					20																	35812582		2203	4300	6503	SO:0001630	splice_region_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35812582G>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.14-1G>T	20.37:g.35812582G>T						RPN2_ENST00000373622.5_Splice_Site		NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			2	324	+		Myeloproliferative disorder(115;0.00878)						Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Splice_Site	SNP	ENST00000237530.6	37		CCDS13291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.554692|3.554692	0.65425|0.65425	.|.	.|.	ENSG00000118705|ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000373632|ENST00000338768	.|.	.|.	.|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72969	.|0.3527	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76121	.|-0.3075	.|5	.|0.72032	.|D	.|0.01	.|.	13.2292|13.2292	0.59933|0.59933	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|C	-1|5	.|.	.|ENSP00000345904:G5C	.|G	+|+	.|1	.|0	RPN2|RPN2	35245996|35245996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.119000|5.119000	0.64679|0.64679	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	.|GGT		0.502	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	Intron	19	38	1	0	6.94344e-10	1	8.49476e-10	19	38				
MUC5AC	4586	broad.mit.edu	37	11	1155652	1155652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1155652G>A	ENST00000356191.2	+	4	340	c.340G>A	c.(340-342)Gcc>Acc	p.A114T				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	114	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTGCGGTGCCGCCTACGAGGA	0.627																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(340-342)Gcc>Acc		mucin 5AC, oligomeric mucus/gel-forming							23.0	24.0	24.0					11																	1155652		874	1989	2863	SO:0001583	missense	4586							g.chr11:1155652G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.340G>A	11.37:g.1155652G>A	ENSP00000348519:p.Ala114Thr						p.A114T						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	4	340	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.340G>A		.	.	.	.	.	.	.	.	.	.	G	3.007	-0.204811	0.06180	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.58940	0.3;2.25	3.18	2.23	0.28157	.	.	.	.	.	T	0.35008	0.0917	N	0.17631	0.505	.	.	.	P	0.48294	0.908	B	0.41135	0.348	T	0.28933	-1.0028	8	0.23302	T	0.38	.	3.5106	0.07706	0.0983:0.1383:0.5349:0.2284	.	114	A7Y9J9	.	T	114	ENSP00000435591:A114T;ENSP00000348519:A114T	ENSP00000348519:A114T	A	+	1	0	MUC5AC	1145652	0.000000	0.05858	0.727000	0.30756	0.273000	0.26683	-0.075000	0.11431	0.623000	0.30267	0.290000	0.19541	GCC		0.627	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		8	9	0	0	0	1	0	8	9				
PRRC2A	7916	broad.mit.edu	37	6	31603042	31603042	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31603042G>A	ENST00000376033.2	+	22	5528	c.5294G>A	c.(5293-5295)aGt>aAt	p.S1765N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1765N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1765	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTGGCACTAGTGACAAGGTC	0.577																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(5293-5295)aGt>aAt		proline-rich coiled-coil 2A							87.0	78.0	81.0					6																	31603042		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31603042G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5294G>A	6.37:g.31603042G>A	ENSP00000365201:p.Ser1765Asn					PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1765N	p.S1765N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			22	5528	+			1765			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.5294G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	7.111	0.575967	0.13623	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02015	4.5;4.5	5.51	1.76	0.24704	.	0.350015	0.28560	N	0.014914	T	0.00724	0.0024	L	0.38175	1.15	0.28254	N	0.925112	B	0.02656	0.0	B	0.04013	0.001	T	0.47724	-0.9095	10	0.87932	D	0	0.0218	5.6341	0.17526	0.2391:0.1477:0.6131:0.0	.	1765	P48634	PRC2A_HUMAN	N	1759;1748;1765;1765;990	ENSP00000365175:S1765N;ENSP00000365201:S1765N	ENSP00000365175:S1765N	S	+	2	0	PRRC2A	31711021	0.993000	0.37304	0.502000	0.27614	0.309000	0.27889	1.209000	0.32357	0.142000	0.18901	-0.291000	0.09656	AGT		0.577	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	13	0	0	0	1	0	8	13				
RBM42	79171	broad.mit.edu	37	19	36124733	36124733	+	Missense_Mutation	SNP	C	C	T	rs539216925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124733C>T	ENST00000262633.4	+	7	934	c.829C>T	c.(829-831)Cct>Tct	p.P277S	RBM42_ENST00000588161.1_Missense_Mutation_p.P247S|RBM42_ENST00000360475.4_Missense_Mutation_p.P248S|RBM42_ENST00000589559.1_Missense_Mutation_p.P248S|RBM42_ENST00000592202.1_Missense_Mutation_p.P223S|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.P255S	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	277	Necessary for interaction with HNRNPK. {ECO:0000250}.|Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCAGCTGGCCCTGCAGTCAT	0.731																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(829-831)Cct>Tct		RNA binding motif protein 42							9.0	13.0	12.0					19																	36124733		2173	4242	6415	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36124733C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.829C>T	19.37:g.36124733C>T	ENSP00000262633:p.Pro277Ser					RBM42_ENST00000588161.1_Missense_Mutation_p.P247S|RBM42_ENST00000360475.4_Missense_Mutation_p.P248S|RBM42_ENST00000592202.1_Missense_Mutation_p.P223S|RBM42_ENST00000589871.1_Missense_Mutation_p.P255S|RBM42_ENST00000589559.1_Missense_Mutation_p.P248S|RBM42_ENST00000586618.1_Intron	p.P277S	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	934	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		277			Necessary for interaction with HNRNPK (By similarity).|Pro-rich.		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.829C>T	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925737	0.52759	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.07800	3.16;3.17	4.51	4.51	0.55191	.	0.462884	0.25219	N	0.032244	T	0.08537	0.0212	N	0.14661	0.345	0.37965	D	0.933101	P;P;P;P	0.48694	0.914;0.914;0.914;0.86	P;P;P;B	0.49451	0.611;0.611;0.611;0.407	T	0.31833	-0.9929	10	0.37606	T	0.19	-6.8118	13.0448	0.58920	0.0:1.0:0.0:0.0	.	243;248;247;277	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	S	277;248	ENSP00000262633:P277S;ENSP00000353663:P248S	ENSP00000262633:P277S	P	+	1	0	RBM42	40816573	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.082000	0.41605	2.808000	0.96608	0.650000	0.86243	CCT		0.731	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		3	1	0	0	0	1	0	3	1				
CHKB	1120	broad.mit.edu	37	22	51019850	51019850	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51019850G>A	ENST00000406938.2	-	4	797	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	CPT1B_ENST00000395650.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	194					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CTGACTCACCGCTCCATGGTC	0.587																																						ENST00000406938.2																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15						c.e4+1		choline kinase beta	Choline(DB00122)						40.0	35.0	36.0					22																	51019850		2203	4298	6501	SO:0001630	splice_region_variant	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51019850G>A	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.581+1C>T	22.37:g.51019850G>A						CHKB_ENST00000463053.1_5'UTR	p.R194_splice	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	4	797	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	194					A0PJM6|Q13388	Splice_Site	SNP	ENST00000406938.2	37	c.581_splice	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194443	0.78902	.	.	ENSG00000100288	ENST00000406938	T	0.57107	0.42	5.03	3.97	0.46021	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.149521	0.46145	D	0.000312	T	0.69788	0.3150	M	0.82323	2.585	0.53688	D	0.999974	D	0.89917	1.0	D	0.70935	0.971	T	0.72915	-0.4147	10	0.87932	D	0	-3.2334	8.6588	0.34079	0.0:0.1629:0.669:0.1682	.	194	Q9Y259	CHKB_HUMAN	W	194	ENSP00000384400:R194W	ENSP00000384400:R194W	R	-	1	2	CHKB	49366716	0.070000	0.21116	1.000000	0.80357	0.990000	0.78478	0.377000	0.20552	2.609000	0.88269	0.561000	0.74099	CGG		0.587	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198	Missense_Mutation	14	12	0	0	0	1	0	14	12				
CDK19	23097	broad.mit.edu	37	6	110953232	110953232	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110953232C>T	ENST00000368911.3	-	6	826		c.e6+1		CDK19_ENST00000323817.3_Splice_Site|CDK19_ENST00000413605.2_Splice_Site	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GACCAACTTACCAATGGCCTT	0.338																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.e6+1		cyclin-dependent kinase 19							92.0	89.0	90.0					6																	110953232		2203	4300	6503	SO:0001630	splice_region_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110953232C>T	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.646+1G>A	6.37:g.110953232C>T						CDK19_ENST00000323817.3_Splice_Site|CDK19_ENST00000413605.2_Splice_Site		NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			6	826	-								Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Splice_Site	SNP	ENST00000368911.3	37		CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558819	0.86231	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6633	0.91479	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK19	111059925	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.409000	0.81822	0.561000	0.74099	.		0.338	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076	Intron	23	68	0	0	0	1	0	23	68				
FARP1	10160	broad.mit.edu	37	13	99047635	99047635	+	Missense_Mutation	SNP	C	C	T	rs149057508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047635C>T	ENST00000319562.6	+	13	1584	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	FARP1_ENST00000376586.2_Missense_Mutation_p.A440V|FARP1_ENST00000595437.1_Missense_Mutation_p.A440V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	440					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACAAGCAGGCGGACGGAGCC	0.682																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1318-1320)gCg>gTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		C	VAL/ALA	0,4326		0,0,2163	18.0	24.0	22.0		1319	-0.9	0.0	13	dbSNP_134	22	1,8465		0,1,4232	no	missense	FARP1	NM_005766.2	64	0,1,6395	TT,TC,CC		0.0118,0.0,0.0078	benign	440/1046	99047635	1,12791	2163	4233	6396	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047635C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1319C>T	13.37:g.99047635C>T	ENSP00000322926:p.Ala440Val					FARP1_ENST00000595437.1_Missense_Mutation_p.A440V|FARP1_ENST00000319562.6_Missense_Mutation_p.A440V	p.A440V			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1655	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		440					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1319C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237813	0.22711	0.0	1.18E-4	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.78707	-1.2;-1.03	4.8	-0.873	0.10635	.	1.823190	0.02366	N	0.077388	T	0.54679	0.1873	N	0.03115	-0.41	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.44112	-0.9349	10	0.23302	T	0.38	.	6.017	0.19608	0.0:0.4322:0.2514:0.3164	.	440;440	Q9Y4F1;C9JME2	FARP1_HUMAN;.	V	440;145;440	ENSP00000365771:A440V;ENSP00000322926:A440V	ENSP00000322926:A440V	A	+	2	0	FARP1	97845636	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.648000	0.05391	-0.116000	0.11893	-1.598000	0.00824	GCG		0.682	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		17	18	0	0	0	1	0	17	18				
MAGEC3	139081	broad.mit.edu	37	X	140969286	140969286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140969286C>A	ENST00000298296.1	+	4	613	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	205	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGAGCCTCTCACAAGAGC	0.448																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(613-615)Ctc>Atc		melanoma antigen family C, 3							150.0	139.0	143.0					X																	140969286		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140969286C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.613C>A	X.37:g.140969286C>A	ENSP00000298296:p.Leu205Ile					MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	p.L205I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	613	+	Acute lymphoblastic leukemia(192;6.56e-05)		205			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.613C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.501776	0.00157	.	.	ENSG00000165509	ENST00000298296	T	0.01887	4.58	2.26	-0.409	0.12378	.	.	.	.	.	T	0.00412	0.0013	N	0.00039	-2.51	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46707	-0.9172	9	0.02654	T	1	.	2.4529	0.04523	0.5147:0.2926:0.1927:0.0	.	205	Q8TD91	MAGC3_HUMAN	I	205	ENSP00000298296:L205I	ENSP00000298296:L205I	L	+	1	0	MAGEC3	140796952	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.515000	0.06290	-0.155000	0.11098	-1.565000	0.00878	CTC		0.448	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		21	153	1	0	6.44725e-10	1	7.89499e-10	21	153				
CACNA1A	773	broad.mit.edu	37	19	13346039	13346039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13346039G>A	ENST00000360228.5	-	33	5116	c.5117C>T	c.(5116-5118)gCc>gTc	p.A1706V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1707V|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1707					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAATGATGGCATAGATGAA	0.567											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5116-5118)gCc>gTc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						47.0	51.0	50.0					19																	13346039		2019	4182	6201	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13346039G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5117C>T	19.37:g.13346039G>A	ENSP00000353362:p.Ala1706Val		OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1707V|CACNA1A_ENST00000574822.1_5'UTR	p.A1706V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		33	5116	-			1707					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5117C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342901	0.82022	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98474	-4.95	5.17	5.17	0.71159	Ion transport (1);	0.285645	0.32935	N	0.005465	D	0.99459	0.9808	H	0.98951	4.38	0.80722	D	1	D;D;D;D	0.89917	0.998;0.985;1.0;0.996	D;P;D;D	0.87578	0.952;0.786;0.998;0.952	D	0.98047	1.0385	10	0.87932	D	0	.	17.4899	0.87700	0.0:0.0:1.0:0.0	.	1707;1712;1706;1707	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	V	1706;1712;1707;1707	ENSP00000353362:A1706V	ENSP00000317661:A1707V	A	-	2	0	CACNA1A	13207039	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.808000	0.99193	2.411000	0.81874	0.644000	0.83932	GCC		0.567	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	4	0	0	0	1	0	3	4				
MFAP3	4238	broad.mit.edu	37	5	153432912	153432912	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153432912C>A	ENST00000436816.1	+	3	947	c.728C>A	c.(727-729)cCt>cAt	p.P243H	MFAP3_ENST00000439768.2_Missense_Mutation_p.P97H|MFAP3_ENST00000322602.5_Missense_Mutation_p.P243H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	243					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCTCTTCCACCTCTTATTCTA	0.473																																						ENST00000436816.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(727-729)cCt>cAt		microfibrillar-associated protein 3							112.0	110.0	111.0					5																	153432912		2203	4300	6503	SO:0001583	missense	4238					integral to membrane|plasma membrane		g.chr5:153432912C>A		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.728C>A	5.37:g.153432912C>A	ENSP00000409933:p.Pro243His					MFAP3_ENST00000322602.5_Missense_Mutation_p.P243H|MFAP3_ENST00000439768.2_Missense_Mutation_p.P97H	p.P243H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	947	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	243					B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	ENST00000436816.1	37	c.728C>A	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993205	0.74703	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.43688	0.94;0.94	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.65975	2.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.60949	-0.7161	9	.	.	.	-16.0353	20.2245	0.98337	0.0:1.0:0.0:0.0	.	243	P55082	MFAP3_HUMAN	H	97;243;243	ENSP00000409933:P243H;ENSP00000322956:P243H	.	P	+	2	0	MFAP3	153413105	1.000000	0.71417	0.994000	0.49952	0.930000	0.56654	7.600000	0.82769	2.861000	0.98227	0.650000	0.86243	CCT		0.473	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		8	70	1	0	1.12685e-05	1	1.27857e-05	8	70				
EEF1A1	1915	broad.mit.edu	37	6	74229613	74229613	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74229613G>T	ENST00000316292.9	-	1	1128	c.137C>A	c.(136-138)gCt>gAt	p.A46D	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46D|EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	46	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TACCTCAGCAGCCTCCTTCTC	0.418																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(136-138)gCt>gAt		eukaryotic translation elongation factor 1 alpha 1							138.0	140.0	139.0					6																	74229613		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229613G>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.137C>A	6.37:g.74229613G>T	ENSP00000339063:p.Ala46Asp					EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46D|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46D	p.A46D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1128	-			46					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.137C>A	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521086	0.64747	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000001	D	0.83193	0.5201	M	0.87827	2.91	0.80722	D	1	P;D;D;D;D	0.69078	0.873;0.987;0.987;0.987;0.997	P;D;D;D;D	0.68192	0.471;0.928;0.928;0.928;0.956	D	0.86860	0.2029	10	0.87932	D	0	.	17.0056	0.86392	0.0:0.0:1.0:0.0	.	46;46;46;46;46	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	D	46	ENSP00000339063:A46D;ENSP00000339053:A46D;ENSP00000330054:A46D;ENSP00000348651:A46D;ENSP00000392366:A46D	ENSP00000339053:A46D	A	-	2	0	EEF1A1	74286334	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.402000	0.97298	2.310000	0.77875	0.555000	0.69702	GCT		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		35	62	1	0	6.04917e-29	1	8.08967e-29	35	62				
DOPEY2	9980	broad.mit.edu	37	21	37583875	37583875	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37583875T>C	ENST00000399151.3	+	6	791	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	DOPEY2_ENST00000492760.1_3'UTR|RN7SL73P_ENST00000585239.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	236					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCTCCCTGTTGGACTCAAA	0.398																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(706-708)Ttg>Ctg		dopey family member 2							214.0	180.0	192.0					21																	37583875		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37583875T>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.706T>C	21.37:g.37583875T>C						DOPEY2_ENST00000492760.1_3'UTR	p.L236L	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			6	791	+			236					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.706T>C	CCDS13643.1																																																																																				0.398	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		43	77	0	0	0	1	0	43	77				
CNTNAP4	85445	broad.mit.edu	37	16	76350288	76350288	+	Missense_Mutation	SNP	G	G	A	rs373956415		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350288G>A	ENST00000476707.1	+	1	212	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000478060.1_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	0					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAACCCTAACGTGGCATTGTT	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17227	0.0		0.0	False		,,,				2504	0.0					ENST00000476707.1																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(73-75)Gtg>Atg		contactin associated protein-like 4		G	,	1,4395	2.1+/-5.4	0,1,2197	103.0	72.0	82.0		,	0.3	0.0	16		82	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron	CNTNAP4	NM_033401.3,NM_138994.3	,	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,	,	76350288	2,12994	2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76350288G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.73G>A	16.37:g.76350288G>A	ENSP00000417628:p.Val25Met					CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000478060.1_Intron	p.V25M			Q9C0A0	CNTP4_HUMAN			1	212	+			0					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.73G>A		.	.	.	.	.	.	.	.	.	.	G	9.525	1.109267	0.20714	2.27E-4	1.16E-4	ENSG00000152910	ENST00000476707	D	0.88664	-2.41	4.99	0.342	0.15996	.	.	.	.	.	T	0.77465	0.4134	.	.	.	0.09310	N	1	P	0.43633	0.813	B	0.28139	0.086	T	0.65302	-0.6201	8	0.45353	T	0.12	.	8.7144	0.34403	0.0868:0.4296:0.4837:0.0	.	25	E9PDN6	.	M	25	ENSP00000417628:V25M	ENSP00000417628:V25M	V	+	1	0	CNTNAP4	74907789	0.003000	0.15002	0.015000	0.15790	0.007000	0.05969	-0.228000	0.09114	0.204000	0.20548	-0.137000	0.14449	GTG		0.448	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		10	16	0	0	0	1	0	10	16				
ALOX5AP	241	broad.mit.edu	37	13	31309770	31309770	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31309770G>A	ENST00000380490.3	+	1	126	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	10					arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGGCAATGTTGTCCTGTTGGC	0.522																																						ENST00000380490.3																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(28-30)Gtc>Atc		arachidonate 5-lipoxygenase-activating protein							187.0	148.0	161.0					13																	31309770		2203	4300	6503	SO:0001583	missense	241				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding	g.chr13:31309770G>A	AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"""five-lipoxygenase activating protein"", ""MK-886-binding protein"""	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.28G>A	13.37:g.31309770G>A	ENSP00000369858:p.Val10Ile						p.V10I	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)	1	126	+		Lung SC(185;0.0257)|Breast(139;0.203)	10					Q5VV04	Missense_Mutation	SNP	ENST00000380490.3	37	c.28G>A	CCDS9337.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070406	0.55539	.	.	ENSG00000132965	ENST00000380490	T	0.68903	-0.36	5.69	5.69	0.88448	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.116207	0.56097	D	0.000021	T	0.73644	0.3613	L	0.29908	0.895	0.45704	D	0.998612	P	0.36249	0.545	D	0.62955	0.909	T	0.67643	-0.5618	10	0.23302	T	0.38	-12.1893	15.3027	0.73966	0.0:0.0:1.0:0.0	.	10	P20292	AL5AP_HUMAN	I	10	ENSP00000369858:V10I	ENSP00000369858:V10I	V	+	1	0	ALOX5AP	30207770	1.000000	0.71417	0.961000	0.40146	0.527000	0.34593	3.906000	0.56340	2.687000	0.91594	0.561000	0.74099	GTC		0.522	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044372.1	NM_001629		13	9	0	0	0	1	0	13	9				
DSTN	11034	broad.mit.edu	37	20	17587726	17587726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17587726C>T	ENST00000246069.7	+	4	779	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DSTN_ENST00000474024.1_Missense_Mutation_p.R128W	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	145	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGATCTCAATCGGGCTTGTAT	0.383																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(433-435)Cgg>Tgg		destrin (actin depolymerizing factor)							142.0	128.0	133.0					20																	17587726		2203	4300	6503	SO:0001583	missense	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17587726C>T	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.433C>T	20.37:g.17587726C>T	ENSP00000246069:p.Arg145Trp					DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Missense_Mutation_p.R128W	p.R145W	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			4	779	+			145			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	c.433C>T	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144564	0.57044	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.36878	1.23;1.23	6.02	5.07	0.68467	Actin-binding, cofilin/tropomyosin type (3);	0.175961	0.49305	D	0.000141	T	0.32615	0.0835	M	0.75447	2.3	0.43275	D	0.995235	P	0.37663	0.604	B	0.26202	0.067	T	0.14392	-1.0474	10	0.37606	T	0.19	-3.5265	10.3619	0.43998	0.0:0.7959:0.1329:0.0712	.	145	P60981	DEST_HUMAN	W	145;128	ENSP00000246069:R145W;ENSP00000444808:R128W	ENSP00000246069:R145W	R	+	1	2	DSTN	17535726	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	1.825000	0.39081	2.865000	0.98341	0.655000	0.94253	CGG		0.383	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		37	56	0	0	0	1	0	37	56				
NINL	22981	broad.mit.edu	37	20	25434265	25434265	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434265G>A	ENST00000278886.6	-	24	4044	c.3971C>T	c.(3970-3972)aCg>aTg	p.T1324M	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.T975M	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1324					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCGGACTTCGTGTTCTTTTC	0.552																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3970-3972)aCg>aTg		ninein-like							72.0	62.0	65.0					20																	25434265		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25434265G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3971C>T	20.37:g.25434265G>A	ENSP00000278886:p.Thr1324Met					NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.T975M	p.T1324M	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			24	4044	-			1324					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3971C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361005	0.24684	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.38077	1.16;1.16	4.89	0.444	0.16592	.	0.804870	0.11065	N	0.603510	T	0.58991	0.2161	M	0.69823	2.125	0.09310	N	1	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.69824	0.804;0.902;0.966	T	0.58752	-0.7581	10	0.87932	D	0	-3.5815	16.2736	0.82632	0.0:0.5181:0.4819:0.0	.	975;1324;115	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	M	1324;975	ENSP00000278886:T1324M;ENSP00000410431:T975M	ENSP00000278886:T1324M	T	-	2	0	NINL	25382265	0.430000	0.25538	0.004000	0.12327	0.175000	0.22909	1.368000	0.34216	-0.023000	0.13963	-0.176000	0.13171	ACG		0.552	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		12	29	0	0	0	1	0	12	29				
PACSIN3	29763	broad.mit.edu	37	11	47202229	47202229	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47202229C>A	ENST00000539589.1	-	5	566	c.224G>T	c.(223-225)gGc>gTc	p.G75V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G75V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	75	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCCAGTGTGCCATACTGGGG	0.642																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(223-225)gGc>gTc		protein kinase C and casein kinase substrate in neurons 3							19.0	20.0	20.0					11																	47202229		2200	4297	6497	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47202229C>A	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.224G>T	11.37:g.47202229C>A	ENSP00000440945:p.Gly75Val					PACSIN3_ENST00000298838.6_Missense_Mutation_p.G75V	p.G75V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			5	566	-			75					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.224G>T	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160274	0.94727	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462;ENST00000531226;ENST00000525725	T;T;T;T;T	0.52754	2.08;2.08;2.08;0.65;0.65	5.56	5.56	0.83823	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77955	-0.2393	10	0.87932	D	0	-38.7713	19.5387	0.95266	0.0:1.0:0.0:0.0	.	75	Q9UKS6	PACN3_HUMAN	V	75	ENSP00000298838:G75V;ENSP00000440945:G75V;ENSP00000437252:G75V;ENSP00000434699:G75V;ENSP00000435638:G75V	ENSP00000298838:G75V	G	-	2	0	PACSIN3	47158805	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.813000	0.86123	2.634000	0.89283	0.561000	0.74099	GGC		0.642	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		3	11	1	0	1	1	1	3	11				
ZNF75D	7626	broad.mit.edu	37	X	134421643	134421643	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421643G>T	ENST00000370766.3	-	7	3668	c.959C>A	c.(958-960)cCt>cAt	p.P320H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P225H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	320					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTATCACCAGGATTTTCCCT	0.383																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(958-960)cCt>cAt		zinc finger protein 75D							129.0	118.0	122.0					X																	134421643		2203	4299	6502	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421643G>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.959C>A	X.37:g.134421643G>T	ENSP00000359802:p.Pro320His					ZNF75D_ENST00000370764.1_Missense_Mutation_p.P225H|ZNF75D_ENST00000494295.1_Intron	p.P320H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			7	3668	-			320					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.959C>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	G	2.997	-0.206982	0.06180	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.07021	3.23;3.25	2.95	-1.09	0.09904	.	0.660210	0.12564	N	0.457923	T	0.02304	0.0071	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47381	-0.9122	10	0.14656	T	0.56	.	5.8157	0.18492	0.0:0.1277:0.5756:0.2967	.	320;225	P51815;A6NK62	ZN75D_HUMAN;.	H	320;225	ENSP00000359802:P320H;ENSP00000359800:P225H	ENSP00000359800:P225H	P	-	2	0	ZNF75D	134249309	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.573000	0.05874	-0.318000	0.08665	-0.760000	0.03462	CCT		0.383	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		19	157	1	0	5.35267e-07	1	6.25286e-07	19	157				
ADIPOR2	79602	broad.mit.edu	37	12	1863574	1863574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1863574G>T	ENST00000357103.4	+	2	316	c.65G>T	c.(64-66)aGa>aTa	p.R22I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	22					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATAAGGCTCAGAAAAGGGCAC	0.473																																						ENST00000357103.4																			0				endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12						c.(64-66)aGa>aTa		adiponectin receptor 2							118.0	113.0	115.0					12																	1863574		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1863574G>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.65G>T	12.37:g.1863574G>T	ENSP00000349616:p.Arg22Ile						p.R22I	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		2	316	+	Ovarian(42;0.107)		22					Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.65G>T	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459568	0.84317	.	.	ENSG00000006831	ENST00000357103	T	0.24151	1.87	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	T	0.16041	0.0386	N	0.08118	0	0.58432	D	0.999998	P	0.50617	0.937	B	0.42851	0.4	T	0.03231	-1.1058	10	0.46703	T	0.11	-11.352	14.5688	0.68197	0.0:0.0:1.0:0.0	.	22	Q86V24	ADR2_HUMAN	I	22	ENSP00000349616:R22I	ENSP00000349616:R22I	R	+	2	0	ADIPOR2	1733835	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.235000	0.58666	2.812000	0.96745	0.557000	0.71058	AGA		0.473	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		6	64	1	0	0.00116845	1	0.00124821	6	64				
ACTR10	55860	broad.mit.edu	37	14	58698849	58698849	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58698849G>A	ENST00000254286.4	+	12	1016	c.936G>A	c.(934-936)ttG>ttA	p.L312L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	312					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTTCTATGTTGCCAGGATTTC	0.358																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(934-936)ttG>ttA		actin-related protein 10 homolog (S. cerevisiae)							132.0	140.0	137.0					14																	58698849		2203	4300	6503	SO:0001819	synonymous_variant	55860					cytoplasm		g.chr14:58698849G>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.936G>A	14.37:g.58698849G>A						ACTR10_ENST00000554402.1_3'UTR	p.L312L	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			12	1016	+			312					Q9H9Y5|Q9NWY2	Silent	SNP	ENST00000254286.4	37	c.936G>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	8.802	0.933233	0.18131	.	.	ENSG00000131966	ENST00000554642	.	.	.	5.77	0.751	0.18392	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36841	-0.9731	4	.	.	.	-0.0807	5.9807	0.19405	0.2663:0.0:0.6115:0.1222	.	.	.	.	T	44	.	.	A	+	1	0	ACTR10	57768602	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	3.178000	0.50879	-0.053000	0.13289	-0.150000	0.13652	GCC		0.358	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			15	160	0	0	0	1	0	15	160				
TMLHE	55217	broad.mit.edu	37	X	154754131	154754131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154754131G>A	ENST00000334398.3	-	3	489	c.344C>T	c.(343-345)aCa>aTa	p.T115I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.T115I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	115					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GAAAAAGAGTGTGGTCTCATC	0.443																																						ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(343-345)aCa>aTa		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						213.0	207.0	209.0					X																	154754131		2202	4300	6502	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154754131G>A	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.344C>T	X.37:g.154754131G>A	ENSP00000335261:p.Thr115Ile					TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.T115I	p.T115I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN			3	489	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		115					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.344C>T	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	G	1.726	-0.495345	0.04291	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;T	0.83335	-1.71;-1.15	4.21	2.37	0.29283	Domain of unknown function, DUF971 (1);	0.637143	0.16302	N	0.220388	T	0.74891	0.3776	L	0.38175	1.15	0.28796	N	0.899042	P;P;P	0.41784	0.762;0.548;0.487	B;B;B	0.42882	0.401;0.323;0.255	T	0.65429	-0.6170	10	0.29301	T	0.29	0.1237	8.4319	0.32764	0.2235:0.0:0.7765:0.0	.	115;115;115	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	I	115	ENSP00000335261:T115I;ENSP00000358447:T115I	ENSP00000335261:T115I	T	-	2	0	TMLHE	154407325	1.000000	0.71417	0.997000	0.53966	0.039000	0.13416	4.600000	0.61083	0.719000	0.32188	-0.312000	0.09012	ACA		0.443	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		121	200	0	0	0	1	0	121	200				
SARS2	54938	broad.mit.edu	37	19	39406518	39406518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39406518C>T	ENST00000221431.6	-	15	1535	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	CTC-360G5.8_ENST00000599996.1_Silent_p.P528P|SARS2_ENST00000600042.1_Missense_Mutation_p.R461H|SARS2_ENST00000594171.1_Missense_Mutation_p.R269H|SARS2_ENST00000598831.1_Missense_Mutation_p.R107H|SARS2_ENST00000430193.3_Missense_Mutation_p.R459H|SARS2_ENST00000448145.2_Missense_Mutation_p.R459H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	459					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GATGAGAAGGCGGGGGACAGC	0.687																																						ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(1375-1377)cGc>cAc		seryl-tRNA synthetase 2, mitochondrial							53.0	60.0	57.0					19																	39406518		2203	4299	6502	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39406518C>T	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1376G>A	19.37:g.39406518C>T	ENSP00000221431:p.Arg459His					SARS2_ENST00000448145.2_Missense_Mutation_p.R459H|SARS2_ENST00000598831.1_Missense_Mutation_p.R107H|SARS2_ENST00000430193.3_Missense_Mutation_p.R459H|SARS2_ENST00000594171.1_Missense_Mutation_p.R269H|SARS2_ENST00000600042.1_Missense_Mutation_p.R461H|CTC-360G5.8_ENST00000599996.1_Silent_p.P528P	p.R459H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		15	1535	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		459					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.1376G>A	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782697	0.70222	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	D;D	0.92805	-3.11;-3.11	4.44	4.44	0.53790	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.97983	4.12	.	.	.	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.99187	1.0869	9	0.87932	D	0	.	16.0174	0.80450	0.0:1.0:0.0:0.0	.	459;461;459;459	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	H	461;459;459	ENSP00000221431:R459H;ENSP00000399330:R459H	ENSP00000221431:R459H	R	-	2	0	FBXO17	44098358	1.000000	0.71417	0.628000	0.29241	0.167000	0.22549	6.563000	0.73964	2.294000	0.77228	0.491000	0.48974	CGC		0.687	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		21	62	0	0	0	1	0	21	62				
SETD7	80854	broad.mit.edu	37	4	140454392	140454392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140454392G>A	ENST00000274031.3	-	3	935	c.299C>T	c.(298-300)aCa>aTa	p.T100I	SETD7_ENST00000404104.3_Missense_Mutation_p.T100I|SETD7_ENST00000406354.1_3'UTR|SETD7_ENST00000506866.2_Missense_Mutation_p.T100I	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	100					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCTCCCATCTGTGTCATATTC	0.507																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(298-300)aCa>aTa		SET domain containing (lysine methyltransferase) 7							181.0	155.0	164.0					4																	140454392		2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140454392G>A	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.299C>T	4.37:g.140454392G>A	ENSP00000274031:p.Thr100Ile					SETD7_ENST00000404104.3_Missense_Mutation_p.T100I|SETD7_ENST00000506866.2_Missense_Mutation_p.T100I|SETD7_ENST00000406354.1_3'UTR	p.T100I	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			3	935	-	all_hematologic(180;0.156)		100					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.299C>T	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543999	0.45280	.	.	ENSG00000145391	ENST00000506866;ENST00000274031;ENST00000404104	T;T;T	0.42131	0.98;0.98;0.98	5.95	5.95	0.96441	.	0.484320	0.24056	N	0.041944	T	0.33789	0.0875	N	0.24115	0.695	0.51482	D	0.999927	B;B	0.23540	0.087;0.019	B;B	0.26310	0.068;0.011	T	0.06285	-1.0835	10	0.37606	T	0.19	-4.4165	16.8291	0.85939	0.0:0.1366:0.8634:0.0	.	100;100	B5MCZ8;Q8WTS6	.;SETD7_HUMAN	I	100	ENSP00000427300:T100I;ENSP00000274031:T100I;ENSP00000385913:T100I	ENSP00000274031:T100I	T	-	2	0	SETD7	140673842	0.909000	0.30893	0.882000	0.34594	0.924000	0.55760	3.545000	0.53648	2.824000	0.97209	0.655000	0.94253	ACA		0.507	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		9	59	0	0	0	1	0	9	59				
SLC22A25	387601	broad.mit.edu	37	11	62933548	62933548	+	Missense_Mutation	SNP	G	G	A	rs151029409		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62933548G>A	ENST00000306494.6	-	7	1252	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGAAGGCAGGTTGCCAGTAG	0.493																																						ENST00000306494.6																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(1252-1254)aCc>aTc		solute carrier family 22, member 25							125.0	101.0	109.0					11																	62933548		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62933548G>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1253C>T	11.37:g.62933548G>A	ENSP00000307443:p.Thr418Ile					SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	p.T418I	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN			7	1252	-			418						Missense_Mutation	SNP	ENST00000306494.6	37	c.1253C>T	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	2.215	-0.379722	0.05000	.	.	ENSG00000196600	ENST00000306494	T	0.54279	0.58	4.66	0.844	0.18943	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.671544	0.15131	N	0.278855	T	0.12347	0.0300	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35301	-0.9794	10	0.08599	T	0.76	.	6.803	0.23762	0.7005:0.0:0.2995:0.0	.	418	Q6T423	S22AP_HUMAN	I	418	ENSP00000307443:T418I	ENSP00000307443:T418I	T	-	2	0	SLC22A25	62690124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.755000	0.26405	-0.102000	0.12197	-0.341000	0.08007	ACC		0.493	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		11	33	0	0	0	1	0	11	33				
SMYD4	114826	broad.mit.edu	37	17	1703452	1703452	+	Silent	SNP	G	G	A	rs139637633	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1703452G>A	ENST00000305513.7	-	5	1403	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	412	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATTAATATCGCATCCAGGAA	0.418																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(1234-1236)tgC>tgT		SET and MYND domain containing 4		G		1,4405	2.1+/-5.4	0,1,2202	141.0	138.0	139.0		1236	-2.8	0.2	17	dbSNP_134	139	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	SMYD4	NM_052928.2		0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846		412/805	1703452	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1703452G>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1236C>T	17.37:g.1703452G>A							p.C412C	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			5	1403	-			412					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.1236C>T	CCDS11013.1																																																																																				0.418	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		10	143	0	0	0	1	0	10	143				
FOXRED1	55572	broad.mit.edu	37	11	126145236	126145236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126145236G>T	ENST00000263578.5	+	6	720	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	FOXRED1_ENST00000532125.1_Missense_Mutation_p.G202C|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Missense_Mutation_p.G46C	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	216						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.G216C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GGAGGACGAAGGTTGGTTTGA	0.537																																						ENST00000263578.5																			1	Substitution - Missense(1)	p.G216C(1)	lung(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(646-648)Ggt>Tgt		FAD-dependent oxidoreductase domain containing 1							106.0	97.0	100.0					11																	126145236		2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126145236G>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.646G>T	11.37:g.126145236G>T	ENSP00000263578:p.Gly216Cys					FOXRED1_ENST00000532125.1_Missense_Mutation_p.G202C|FOXRED1_ENST00000442061.2_Missense_Mutation_p.G46C|FOXRED1_ENST00000534011.1_3'UTR	p.G216C	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	6	720	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	216					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.646G>T	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787732	0.90367	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.85411	-1.98;-1.98;-1.98	5.77	5.77	0.91146	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96246	0.9179	10	0.87932	D	0	-11.2613	19.5806	0.95465	0.0:0.0:1.0:0.0	.	202;83;216	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	C	216;46;202	ENSP00000263578:G216C;ENSP00000404371:G46C;ENSP00000434178:G202C	ENSP00000263578:G216C	G	+	1	0	FOXRED1	125650446	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.119000	0.94362	2.726000	0.93360	0.643000	0.83706	GGT		0.537	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		4	93	1	0	0.00116845	1	0.00124821	4	93				
KIAA1755	85449	broad.mit.edu	37	20	36846682	36846682	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36846682G>T	ENST00000279024.4	-	12	2914	c.2643C>A	c.(2641-2643)gcC>gcA	p.A881A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	881										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTCTGCGTGGGCTTTCTCCA	0.582																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2641-2643)gcC>gcA		KIAA1755							91.0	80.0	84.0					20																	36846682		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36846682G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2643C>A	20.37:g.36846682G>T							p.A881A	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			12	2914	-		Myeloproliferative disorder(115;0.00874)	881					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2643C>A	CCDS33467.1																																																																																				0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		7	37	1	0	0.248553	1	0.25002	7	37				
KIAA0368	23392	broad.mit.edu	37	9	114176796	114176796	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114176796C>A	ENST00000338205.5	-	18	2119	c.1900G>T	c.(1900-1902)Gca>Tca	p.A634S	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A812S|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368	640					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GATGAGGGTGCCATCTGCCCG	0.537																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2434-2436)Gca>Tca		KIAA0368							154.0	149.0	151.0					9																	114176796		2012	4166	6178	SO:0001583	missense	23392							g.chr9:114176796C>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1900G>T	9.37:g.114176796C>A	ENSP00000339889:p.Ala634Ser					KIAA0368_ENST00000338205.5_Missense_Mutation_p.A634S	p.A812S	NM_001080398.1	NP_001073867.1					20	2433	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2434G>T		.	.	.	.	.	.	.	.	.	.	C	1.492	-0.554345	0.03996	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.67171	-0.25	5.28	0.311	0.15831	Armadillo-like helical (1);Armadillo-type fold (1);	0.342506	0.28803	N	0.014095	T	0.29190	0.0726	N	0.02011	-0.69	0.22888	N	0.998607	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.26467	-1.0102	10	0.07644	T	0.81	-11.7543	5.7299	0.18034	0.1354:0.3838:0.0:0.4807	.	640;109	Q5VYK3;B3KXF2	ECM29_HUMAN;.	S	634;812;109	ENSP00000259335:A812S	ENSP00000259335:A812S	A	-	1	0	KIAA0368	113216617	0.002000	0.14202	0.001000	0.08648	0.054000	0.15201	-0.190000	0.09615	-0.120000	0.11809	-0.367000	0.07326	GCA		0.537	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		28	64	1	0	1.42536e-11	1	1.77909e-11	28	64				
TSPAN17	26262	broad.mit.edu	37	5	176078862	176078862	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176078862C>T	ENST00000503045.1	+	3	301	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TSPAN17_ENST00000508164.1_Silent_p.C82C|TSPAN17_ENST00000310032.8_Silent_p.C82C|TSPAN17_ENST00000515708.1_Silent_p.C82C|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000405525.2_Silent_p.C82C			Q96FV3	TSN17_HUMAN	tetraspanin 17	82					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCTGGCTGCATTGGGGCCC	0.582																																						ENST00000405525.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(244-246)tgC>tgT		tetraspanin 17							135.0	132.0	133.0					5																	176078862		2203	4300	6503	SO:0001819	synonymous_variant	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176078862C>T	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.246C>T	5.37:g.176078862C>T						TSPAN17_ENST00000508164.1_Silent_p.C82C|TSPAN17_ENST00000515708.1_Silent_p.C82C|TSPAN17_ENST00000310032.8_Silent_p.C82C|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000503045.1_Silent_p.C82C	p.C82C	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	475	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	82					Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37	c.246C>T																																																																																					0.582	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			30	50	0	0	0	1	0	30	50				
CNOT1	23019	broad.mit.edu	37	16	58560003	58560003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58560003G>T	ENST00000317147.5	-	45	6825	c.6493C>A	c.(6493-6495)Ctc>Atc	p.L2165I	CNOT1_ENST00000245138.4_Missense_Mutation_p.L1016I|CNOT1_ENST00000569240.1_Missense_Mutation_p.L2160I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2165					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAATTGGTGAGAATCCGGGGA	0.393																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6493-6495)Ctc>Atc		CCR4-NOT transcription complex, subunit 1							130.0	128.0	129.0					16																	58560003		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58560003G>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6493C>A	16.37:g.58560003G>T	ENSP00000320949:p.Leu2165Ile					CNOT1_ENST00000569240.1_Missense_Mutation_p.L2160I|CNOT1_ENST00000245138.4_Missense_Mutation_p.L1016I	p.L2165I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	45	6825	-			2165					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6493C>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891485	0.91889	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.51574	0.7	5.68	5.68	0.88126	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.78456	2.415	0.80722	D	1	D;P;P	0.54964	0.969;0.872;0.868	P;P;P	0.56960	0.504;0.81;0.79	T	0.61520	-0.7046	10	0.26408	T	0.33	.	18.7868	0.91959	0.0:0.0:1.0:0.0	.	1016;2165;2160	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	I	2165;859;170;1016	ENSP00000320949:L2165I	ENSP00000245138:L1016I	L	-	1	0	CNOT1	57117504	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.626000	0.98410	2.682000	0.91365	0.557000	0.71058	CTC		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		6	94	1	0	0.00198382	1	0.00210581	6	94				
RDX	5962	broad.mit.edu	37	11	110124681	110124681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124681G>A	ENST00000343115.4	-	9	1268	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	RDX_ENST00000405097.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.Q181*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	317	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTTCCAACTGCTTCTGATGT	0.373																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(949-951)Cag>Tag		radixin							114.0	100.0	105.0					11																	110124681		2201	4298	6499	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110124681G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.949C>T	11.37:g.110124681G>A	ENSP00000342830:p.Gln317*					RDX_ENST00000405097.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000528498.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.Q181*	p.Q317*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	9	1268	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	317			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.949C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	38	7.209207	0.98136	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	.	.	.	5.72	5.72	0.89469	.	0.052212	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.8831	0.96905	0.0:0.0:1.0:0.0	.	.	.	.	X	317;317;317;317;181	.	ENSP00000342830:Q317X	Q	-	1	0	RDX	109629891	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.799000	0.99117	2.705000	0.92388	0.655000	0.94253	CAG		0.373	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		35	45	0	0	0	1	0	35	45				
TNC	3371	broad.mit.edu	37	9	117797590	117797590	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117797590T>C	ENST00000350763.4	-	22	6091	c.5680A>G	c.(5680-5682)Act>Gct	p.T1894A	TNC_ENST00000542877.1_Missense_Mutation_p.T1531A|TNC_ENST00000423613.2_Missense_Mutation_p.T1621A|TNC_ENST00000346706.3_Missense_Mutation_p.T1348A|TNC_ENST00000537320.1_Missense_Mutation_p.T1257A|TNC_ENST00000341037.4_Missense_Mutation_p.T1712A|TNC_ENST00000345230.3_Missense_Mutation_p.T1257A|TNC_ENST00000535648.1_Missense_Mutation_p.T1439A|TNC_ENST00000340094.3_Missense_Mutation_p.T1530A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1894	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGTAGCAGTCAAGTCTCTT	0.512																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5680-5682)Act>Gct		tenascin C							76.0	75.0	75.0					9																	117797590		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797590T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5680A>G	9.37:g.117797590T>C	ENSP00000265131:p.Thr1894Ala					TNC_ENST00000345230.3_Missense_Mutation_p.T1257A|TNC_ENST00000542877.1_Missense_Mutation_p.T1531A|TNC_ENST00000423613.2_Missense_Mutation_p.T1621A|TNC_ENST00000346706.3_Missense_Mutation_p.T1348A|TNC_ENST00000537320.1_Missense_Mutation_p.T1257A|TNC_ENST00000340094.3_Missense_Mutation_p.T1530A|TNC_ENST00000341037.4_Missense_Mutation_p.T1712A|TNC_ENST00000535648.1_Missense_Mutation_p.T1439A	p.T1894A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			22	6091	-			1894			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5680A>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.87|12.87	2.067543|2.067543	0.36470|0.36470	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.|T;T;T;T;T;T;T;T;T	.|0.58797	.|0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.97|5.97	1.94|1.94	0.25998|0.25998	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.527757	.|0.22554	.|N	.|0.058553	T|T	0.38692|0.38692	0.1050|0.1050	L|L	0.31578|0.31578	0.945|0.945	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.25105	.|0.118;0.022	.|B;B	.|0.25405	.|0.048;0.06	T|T	0.21895|0.21895	-1.0232|-1.0232	5|10	.|0.07030	.|T	.|0.85	.|.	10.7565|10.7565	0.46241|0.46241	0.0:0.2102:0.0:0.7898|0.0:0.2102:0.0:0.7898	.|.	.|1621;1894	.|E9PC84;P24821	.|.;TENA_HUMAN	G|A	456|1530;1439;1348;1257;1894;966;1712;1621;1257;1531	.|ENSP00000344400:T1530A;ENSP00000438152:T1439A;ENSP00000344555:T1348A;ENSP00000345861:T1257A;ENSP00000265131:T1894A;ENSP00000339553:T1712A;ENSP00000411406:T1621A;ENSP00000443478:T1257A;ENSP00000442242:T1531A	.|ENSP00000344400:T1530A	D|T	-|-	2|1	0|0	TNC|TNC	116837411|116837411	0.992000|0.992000	0.36948|0.36948	0.992000|0.992000	0.48379|0.48379	0.892000|0.892000	0.51952|0.51952	1.227000|1.227000	0.32576|0.32576	0.494000|0.494000	0.27859|0.27859	-0.290000|-0.290000	0.09829|0.09829	GAC|ACT		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		3	54	0	0	0	1	0	3	54				
LILRB1	10859	broad.mit.edu	37	19	55148190	55148190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55148190C>T	ENST00000396331.1	+	16	2171	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	LILRB1_ENST00000396317.1_Missense_Mutation_p.A589V|LILRB1_ENST00000396327.3_Missense_Mutation_p.A606V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.A607V|LILRB1_ENST00000324602.7_Missense_Mutation_p.A607V|LILRB1_ENST00000396332.4_Missense_Mutation_p.A606V|LILRB1_ENST00000434867.2_Missense_Mutation_p.A605V|LILRB1_ENST00000427581.2_Missense_Mutation_p.A656V|LILRB1_ENST00000418536.2_Missense_Mutation_p.A589V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.A605V|LILRB1_ENST00000448689.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	605					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGCTGCTGCATCTGAAGCC	0.647										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1813-1815)gCa>gTa		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							58.0	55.0	56.0					19																	55148190		2203	4297	6500	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148190C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1814C>T	19.37:g.55148190C>T	ENSP00000379622:p.Ala605Val	HNSCC(37;0.09)				LILRB1_ENST00000396315.1_Missense_Mutation_p.A607V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.A607V|LILRB1_ENST00000396321.2_Missense_Mutation_p.A605V|LILRB1_ENST00000418536.2_Missense_Mutation_p.A589V|LILRB1_ENST00000434867.2_Missense_Mutation_p.A605V|LILRB1_ENST00000396317.1_Missense_Mutation_p.A589V|LILRB1_ENST00000396332.4_Missense_Mutation_p.A606V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.A606V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.A656V	p.A605V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2171	+			605					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1814C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812040	0.32053	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00526	6.86;6.84;6.86;6.85;6.84;6.86;6.87;6.8;6.84;6.84	2.1	-0.591	0.11675	.	.	.	.	.	T	0.00936	0.0031	L	0.61036	1.89	0.09310	N	1	D;D;D;D;D	0.76494	0.976;0.999;0.98;0.994;0.997	P;D;P;P;D	0.66979	0.834;0.948;0.824;0.904;0.938	T	0.51004	-0.8760	9	0.20519	T	0.43	.	6.0491	0.19775	0.5459:0.4541:0.0:0.0	.	589;607;606;606;605	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	V	605;589;605;606;607;605;606;656;589;607	ENSP00000379614:A605V;ENSP00000391514:A589V;ENSP00000379622:A605V;ENSP00000379618:A606V;ENSP00000315997:A607V;ENSP00000405243:A605V;ENSP00000379623:A606V;ENSP00000395004:A656V;ENSP00000379610:A589V;ENSP00000379608:A607V	ENSP00000315997:A607V	A	+	2	0	LILRB1	59840002	0.001000	0.12720	0.000000	0.03702	0.044000	0.14063	0.862000	0.27899	-0.020000	0.14032	0.194000	0.17425	GCA		0.647	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			7	24	0	0	0	1	0	7	24				
FOXN2	3344	broad.mit.edu	37	2	48573609	48573609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48573609T>C	ENST00000340553.3	+	3	517	c.256T>C	c.(256-258)Tat>Cat	p.Y86H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	86					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TAGTCCATTGTATGACATAGA	0.433																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(256-258)Tat>Cat		forkhead box N2							125.0	122.0	123.0					2																	48573609		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573609T>C		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.256T>C	2.37:g.48573609T>C	ENSP00000343633:p.Tyr86His						p.Y86H	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	517	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	86					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.256T>C	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	T	9.937	1.216393	0.22373	.	.	ENSG00000170802	ENST00000413569;ENST00000340553	D;D	0.94650	-3.48;-3.31	5.28	5.28	0.74379	.	0.056354	0.64402	D	0.000001	D	0.91389	0.7283	L	0.47716	1.5	0.42120	D	0.991424	B	0.17038	0.02	B	0.14023	0.01	D	0.88072	0.2801	10	0.21540	T	0.41	.	15.0203	0.71624	0.0:0.0:0.0:1.0	.	86	P32314	FOXN2_HUMAN	H	86	ENSP00000388486:Y86H;ENSP00000343633:Y86H	ENSP00000343633:Y86H	Y	+	1	0	FOXN2	48427113	1.000000	0.71417	0.765000	0.31456	0.951000	0.60555	3.270000	0.51600	2.212000	0.71576	0.482000	0.46254	TAT		0.433	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		32	49	0	0	0	1	0	32	49				
CCT8L2	150160	broad.mit.edu	37	22	17072024	17072024	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17072024C>A	ENST00000359963.3	-	1	1676	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	473					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGTTCCCACCTTGGTGCACT	0.507																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1417-1419)Ggt>Tgt		chaperonin containing TCP1, subunit 8 (theta)-like 2							138.0	138.0	138.0					22																	17072024		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072024C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1417G>T	22.37:g.17072024C>A	ENSP00000353048:p.Gly473Cys						p.G473C	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1676	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	473					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1417G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	4.095	0.015665	0.07959	.	.	ENSG00000198445	ENST00000359963	T	0.12361	2.69	1.98	1.98	0.26296	.	0.395777	0.18257	U	0.146758	T	0.16514	0.0397	N	0.19112	0.55	0.26211	N	0.979297	D	0.58970	0.984	P	0.61275	0.886	T	0.03000	-1.1084	10	0.87932	D	0	-0.3097	7.4423	0.27190	0.0:1.0:0.0:0.0	.	473	Q96SF2	TCPQM_HUMAN	C	473	ENSP00000353048:G473C	ENSP00000353048:G473C	G	-	1	0	CCT8L2	15452024	0.001000	0.12720	0.903000	0.35520	0.086000	0.17979	-0.671000	0.05250	1.115000	0.41800	0.379000	0.24179	GGT		0.507	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			12	114	1	0	7.93312e-07	1	9.21973e-07	12	114				
NLRP1	22861	broad.mit.edu	37	17	5463309	5463309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5463309G>A	ENST00000572272.1	-	4	706	c.707C>T	c.(706-708)gCg>gTg	p.A236V	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.A236V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A236V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A236V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A236V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A236V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	236					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTACCACCGCTGCCCATGG	0.552																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(706-708)gCg>gTg		NLR family, pyrin domain containing 1							39.0	45.0	43.0					17																	5463309		2201	4299	6500	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463309G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.707C>T	17.37:g.5463309G>A	ENSP00000460475:p.Ala236Val					NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A236V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A236V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A236V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A236V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A236V	p.A236V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	1261	-		Colorectal(1115;3.48e-05)	236					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.707C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.147656	0.00328	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.72394	-0.65;-0.65;-0.62;-0.6;-0.62	0.664	-1.33	0.09172	.	.	.	.	.	T	0.39963	0.1098	N	0.14661	0.345	0.09310	N	1	D;P;B;P;B	0.54601	0.967;0.545;0.41;0.545;0.113	B;B;B;B;B	0.33392	0.163;0.009;0.004;0.009;0.019	T	0.37865	-0.9687	8	0.30854	T	0.27	.	.	.	.	.	236;236;236;236;236	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	V	236	ENSP00000442029:A236V;ENSP00000262467:A236V;ENSP00000269280:A236V;ENSP00000346390:A236V;ENSP00000324366:A236V	ENSP00000262467:A236V	A	-	2	0	NLRP1	5404033	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.249000	0.18216	-0.472000	0.06881	0.196000	0.17591	GCG		0.552	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		23	38	0	0	0	1	0	23	38				
LIMS1	3987	broad.mit.edu	37	2	109276098	109276098	+	Missense_Mutation	SNP	C	C	T	rs200004487	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109276098C>T	ENST00000393310.1	+	2	201	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	LIMS1_ENST00000544547.1_Missense_Mutation_p.R24C|LIMS1_ENST00000393314.2_Missense_Mutation_p.R74C|LIMS1_ENST00000409441.1_Missense_Mutation_p.R49C|LIMS1_ENST00000338045.3_Missense_Mutation_p.R12C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R74C|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000332345.6_Missense_Mutation_p.R12C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R16C	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	12	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CACTTGCGAGCGCTGCAAGGG	0.562													C|||	2	0.000399361	0.0	0.0014	5008	,	,		22704	0.001		0.0	False		,,,				2504	0.0					ENST00000393310.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(34-36)Cgc>Tgc		LIM and senescent cell antigen-like domains 1		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	58.0	62.0		46,70,145,220,34,34	3.8	1.0	2		62	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense,missense,missense,missense,missense	LIMS1	NM_001193482.1,NM_001193483.2,NM_001193484.1,NM_001193485.2,NM_001193488.1,NM_004987.5	180,180,180,180,180,180	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	16/330,24/338,49/363,74/388,12/326,12/326	109276098	3,13001	2203	4299	6502	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109276098C>T		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.34C>T	2.37:g.109276098C>T	ENSP00000376987:p.Arg12Cys					LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000332345.6_Missense_Mutation_p.R12C|LIMS1_ENST00000544547.1_Missense_Mutation_p.R24C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R74C|LIMS1_ENST00000393314.2_Missense_Mutation_p.R74C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R16C|LIMS1_ENST00000409441.1_Missense_Mutation_p.R49C|LIMS1_ENST00000338045.3_Missense_Mutation_p.R12C	p.R12C	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN			2	201	+			12			LIM zinc-binding 1.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.34C>T	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638350	0.87760	2.27E-4	2.33E-4	ENSG00000169756	ENST00000544547;ENST00000428064;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845;ENST00000393314	D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.63	3.75	0.43078	Zinc finger, LIM-type (5);	0.084720	0.49305	D	0.000148	D	0.93585	0.7952	M	0.88704	2.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.70487	0.953;0.969;0.954;0.954	D	0.94171	0.7423	10	0.66056	D	0.02	.	12.9713	0.58513	0.0:0.9214:0.0:0.0786	.	74;49;12;24	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	C	24;24;12;12;16;49;12;74;74	ENSP00000437912:R24C;ENSP00000390862:R24C;ENSP00000331775:R12C;ENSP00000376987:R12C;ENSP00000386926:R16C;ENSP00000387264:R49C;ENSP00000337598:R12C;ENSP00000446121:R74C;ENSP00000376990:R74C	ENSP00000331775:R12C	R	+	1	0	LIMS1	108642530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	1.161000	0.42604	0.563000	0.77884	CGC		0.562	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		20	58	0	0	0	1	0	20	58				
CDK5RAP2	55755	broad.mit.edu	37	9	123290158	123290158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123290158C>A	ENST00000349780.4	-	10	1104	c.925G>T	c.(925-927)Gag>Tag	p.E309*	CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E309*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E309*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E309*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	309					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTTTTCTTCTCTGTAGCAATT	0.358																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(925-927)Gag>Tag		CDK5 regulatory subunit associated protein 2							175.0	160.0	165.0					9																	123290158		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123290158C>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.925G>T	9.37:g.123290158C>A	ENSP00000343818:p.Glu309*					CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E309*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E309*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E309*	p.E309*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			10	1104	-			309					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.925G>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	c	36	5.898082	0.97081	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313;ENST00000482047	.	.	.	6.03	5.13	0.70059	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	15.182	0.72965	0.1409:0.8591:0.0:0.0	.	.	.	.	X	309;309;309;309;311;63	.	ENSP00000341695:E311X	E	-	1	0	CDK5RAP2	122329979	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.655000	0.67981	1.553000	0.49476	0.558000	0.71614	GAG		0.358	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		4	65	1	0	1	1	1	4	65				
PGM2	55276	broad.mit.edu	37	4	37857286	37857286	+	Missense_Mutation	SNP	G	G	A	rs201099295	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37857286G>A	ENST00000381967.4	+	13	1760	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	PGM2_ENST00000537241.1_Missense_Mutation_p.V394M	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	554					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAATGGAGGCGTGGCCACCAT	0.468													G|||	11	0.00219649	0.0	0.0	5008	,	,		17891	0.0		0.0	False		,,,				2504	0.0112					ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1660-1662)Gtg>Atg		phosphoglucomutase 2		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	104.0	93.0	96.0		1660	5.7	1.0	4		96	0,8600		0,0,4300	yes	missense	PGM2	NM_018290.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	554/613	37857286	1,13005	2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37857286G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1660G>A	4.37:g.37857286G>A	ENSP00000371393:p.Val554Met					PGM2_ENST00000537241.1_Missense_Mutation_p.V394M	p.V554M	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			13	1760	+			554					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1660G>A	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000778	0.93227	2.27E-4	0.0	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.49139	0.79;0.79	5.73	5.73	0.89815	Alpha-D-phosphohexomutase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.74390	-0.3681	10	0.41790	T	0.15	-18.4878	19.9718	0.97287	0.0:0.0:1.0:0.0	.	554	Q96G03	PGM2_HUMAN	M	554;394	ENSP00000371393:V554M;ENSP00000437342:V394M	ENSP00000371393:V554M	V	+	1	0	PGM2	37533681	1.000000	0.71417	0.968000	0.41197	0.935000	0.57460	7.915000	0.87484	2.718000	0.92993	0.650000	0.86243	GTG		0.468	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		5	40	0	0	0	1	0	5	40				
CRB1	23418	broad.mit.edu	37	1	197404300	197404300	+	Missense_Mutation	SNP	G	G	A	rs62636275		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197404300G>A	ENST00000367400.3	+	9	3442	c.3307G>A	c.(3307-3309)Gga>Aga	p.G1103R	CRB1_ENST00000535699.1_Missense_Mutation_p.G1079R|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.G991R|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.G484R|CRB1_ENST00000544212.1_Missense_Mutation_p.G584R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1103	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		G -> R (in LCA8 and RP12). {ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:19140180, ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:22065545}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1103R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATAGAAATCGGAGGCATTTA	0.368																																						ENST00000367397.1																			1	Substitution - Missense(1)	p.G1103R(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CM040718|CM057655	CRB1	M	rs62636275	c.(1450-1452)Gga>Aga		crumbs homolog 1 (Drosophila)							60.0	64.0	63.0					1																	197404300		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404300G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3307G>A	1.37:g.197404300G>A	ENSP00000356370:p.Gly1103Arg					CRB1_ENST00000367399.2_Missense_Mutation_p.G991R|CRB1_ENST00000544212.1_Missense_Mutation_p.G584R|CRB1_ENST00000367400.3_Missense_Mutation_p.G1103R|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.G1079R	p.G484R			P82279	CRUM1_HUMAN			5	2308	+			1103					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1450G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107780	0.56291	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.7	-3.14	0.05250	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.74450	0.3718	M	0.64170	1.965	0.30234	A	0.204376	D;D;D;D	0.76494	0.999;0.999;0.997;0.998	P;D;P;P	0.64776	0.8;0.929;0.897;0.835	T	0.78937	-0.2007	8	0.56958	D	0.05	.	13.1462	0.59463	0.6665:0.0:0.3335:0.0	rs62636275	1079;991;752;1103	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	R	1079;1103;991;584;484;752	ENSP00000438786:G1079R;ENSP00000356370:G1103R;ENSP00000356369:G991R;ENSP00000444556:G584R;ENSP00000356367:G484R	ENSP00000356367:G484R	G	+	1	0	CRB1	195670923	0.012000	0.17670	0.225000	0.23894	0.756000	0.42949	0.304000	0.19228	-0.359000	0.08150	0.650000	0.86243	GGA		0.368	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		35	51	0	0	0	1	0	35	51				
LRG1	116844	broad.mit.edu	37	19	4538043	4538043	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4538043T>C	ENST00000306390.6	-	2	1413	c.953A>G	c.(952-954)aAa>aGa	p.K318R	LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000586133.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	318	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTGTCTTTTTGGGCCTG	0.592																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(952-954)aAa>aGa		leucine-rich alpha-2-glycoprotein 1							66.0	62.0	63.0					19																	4538043		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538043T>C		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.953A>G	19.37:g.4538043T>C	ENSP00000302621:p.Lys318Arg					CTB-50L17.14_ENST00000586020.1_Intron	p.K318R	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1413	-		Hepatocellular(1079;0.137)	318			LRRCT.		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.953A>G	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	9.234	1.036631	0.19669	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02345	4.33	5.24	2.05	0.26809	Cysteine-rich flanking region, C-terminal (1);	1.187620	0.06287	N	0.698539	T	0.01592	0.0051	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48246	-0.9052	10	0.10377	T	0.69	-0.6153	6.4046	0.21658	0.0:0.2914:0.0:0.7086	.	318	P02750	A2GL_HUMAN	R	318;301	ENSP00000302621:K318R	ENSP00000302621:K318R	K	-	2	0	LRG1	4489043	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.086000	0.11233	0.140000	0.18849	0.533000	0.62120	AAA		0.592	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		4	53	0	0	0	1	0	4	53				
ADAM19	8728	broad.mit.edu	37	5	156940493	156940493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156940493G>A	ENST00000517905.1	-	8	731	c.687C>T	c.(685-687)gaC>gaT	p.D229D	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Silent_p.D229D|ADAM19_ENST00000394020.1_Silent_p.D231D			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	229	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGTCCTGGTCTCGTCGAT	0.493																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(685-687)gaC>gaT		ADAM metallopeptidase domain 19							326.0	251.0	277.0					5																	156940493		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156940493G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.687C>T	5.37:g.156940493G>A						ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Silent_p.D229D|ADAM19_ENST00000394020.1_Silent_p.D231D	p.D229D	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	765	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	229			Peptidase M12B.		Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.687C>T																																																																																					0.493	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		30	43	0	0	0	1	0	30	43				
KIAA2022	340533	broad.mit.edu	37	X	73962651	73962651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73962651G>T	ENST00000055682.6	-	3	2352	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	581					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGGGTGCCAGCTTGGCATAT	0.448																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1741-1743)Ctg>Atg		KIAA2022							116.0	96.0	103.0					X																	73962651		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962651G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1741C>A	X.37:g.73962651G>T	ENSP00000055682:p.Leu581Met					KIAA2022_ENST00000055682.5_Missense_Mutation_p.L581M	p.L581M			Q5QGS0	K2022_HUMAN			3	2392	-			581					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1741C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336772	0.41398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.59502	0.26;0.26	5.97	4.2	0.49525	.	0.142778	0.48286	D	0.000187	T	0.68595	0.3018	L	0.46741	1.465	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.67669	-0.5611	10	0.52906	T	0.07	-4.7808	12.8789	0.58006	0.1202:0.0:0.8798:0.0	.	581	Q5QGS0	K2022_HUMAN	M	581	ENSP00000362567:L581M;ENSP00000055682:L581M	ENSP00000055682:L581M	L	-	1	2	KIAA2022	73879376	1.000000	0.71417	0.993000	0.49108	0.723000	0.41478	3.750000	0.55157	0.642000	0.30620	0.600000	0.82982	CTG		0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		24	42	1	0	1.85244e-09	1	2.25385e-09	24	42				
ZNF791	163049	broad.mit.edu	37	19	12735514	12735514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12735514C>T	ENST00000343325.4	+	3	343	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R29*|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAACCAAGGACGAAATCTAAG	0.363																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(181-183)Cga>Tga		zinc finger protein 791							68.0	66.0	66.0					19																	12735514		2203	4300	6503	SO:0001587	stop_gained	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12735514C>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.181C>T	19.37:g.12735514C>T	ENSP00000342974:p.Arg61*					ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R29*|ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000540038.1_5'UTR	p.R61*	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			3	343	+			61			KRAB.		B7Z586|Q8NC99	Nonsense_Mutation	SNP	ENST00000343325.4	37	c.181C>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	c	13.28	2.191307	0.38707	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	.	.	.	1.51	0.439	0.16567	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3694	0.11241	0.6406:0.3594:0.0:0.0	.	.	.	.	X	61;61;29	.	ENSP00000342974:R61X	R	+	1	2	ZNF791	12596514	0.022000	0.18835	0.001000	0.08648	0.010000	0.07245	0.522000	0.22909	0.058000	0.16222	-0.977000	0.02584	CGA		0.363	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		3	13	0	0	0	1	0	3	13				
STRADB	55437	broad.mit.edu	37	2	202344895	202344895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202344895C>T	ENST00000194530.3	+	12	1619	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	418					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ACTGGGAATTCTAGGGCTGCC	0.378																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(1252-1254)ttC>ttT		STE20-related kinase adaptor beta							130.0	132.0	132.0					2																	202344895		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202344895C>T	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1254C>T	2.37:g.202344895C>T						STRADB_ENST00000392249.2_3'UTR	p.F418F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			12	1619	+			418					Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.1254C>T	CCDS2348.1																																																																																				0.378	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		5	206	0	0	0	1	0	5	206				
PDCD4	27250	broad.mit.edu	37	10	112647497	112647497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112647497G>T	ENST00000280154.7	+	6	904	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PDCD4_ENST00000393104.2_Missense_Mutation_p.E199D|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	210	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAGCATTGGAGGGGAAGGCTA	0.353																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(595-597)gaG>gaT		programmed cell death 4 (neoplastic transformation inhibitor)							175.0	157.0	163.0					10																	112647497		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112647497G>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.630G>T	10.37:g.112647497G>T	ENSP00000280154:p.Glu210Asp					PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.E210D	p.E199D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	7	957	+		Breast(234;0.0848)|Lung NSC(174;0.238)	210			MI 1.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.597G>T	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821480	0.50633	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	T;T;T	0.47177	0.85;0.85;0.85	5.51	0.329	0.15924	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	N	0.11106	0.095	0.80722	D	1	B;B;B	0.22746	0.074;0.036;0.036	B;B;B	0.25884	0.064;0.064;0.047	T	0.19943	-1.0290	10	0.05959	T	0.93	-19.3965	9.0641	0.36453	0.4401:0.0:0.5599:0.0	.	196;210;199	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	D	210;199;196	ENSP00000280154:E210D;ENSP00000376816:E199D;ENSP00000394668:E196D	ENSP00000280154:E210D	E	+	3	2	PDCD4	112637487	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.908000	0.39907	-0.120000	0.11809	0.650000	0.86243	GAG		0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		45	84	1	0	2.20914e-33	1	2.96736e-33	45	84				
CD274	29126	broad.mit.edu	37	9	5457177	5457177	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5457177G>A	ENST00000381577.3	+	3	237	c.151G>A	c.(151-153)Gct>Act	p.A51T	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	51	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ATTAGACCTGGCTGCACTAAT	0.403			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																	ENST00000381577.3				Dom	yes		9	9p24	29126	T	CD274 molecule			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(151-153)Gct>Act		CD274 molecule							95.0	95.0	95.0					9																	5457177		2203	4300	6503	SO:0001583	missense	29126				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	g.chr9:5457177G>A	AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.151G>A	9.37:g.5457177G>A	ENSP00000370989:p.Ala51Thr					CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	p.A51T	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)	3	237	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	51			Ig-like V-type.		B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	c.151G>A	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.091617	0.00364	.	.	ENSG00000120217	ENST00000381577	T	0.65549	-0.16	5.78	-11.6	0.00059	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.703640	0.00166	N	0.000000	T	0.36717	0.0977	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.49943	-0.8885	10	0.13108	T	0.6	-4.5633	6.7422	0.23443	0.1104:0.3861:0.3627:0.1408	.	51;51	Q9NZQ7-3;Q9NZQ7	.;PD1L1_HUMAN	T	51	ENSP00000370989:A51T	ENSP00000370989:A51T	A	+	1	0	CD274	5447177	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-4.312000	0.00255	-7.358000	0.00001	-2.093000	0.00369	GCT		0.403	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		28	42	0	0	0	1	0	28	42				
BIRC6	57448	broad.mit.edu	37	2	32688447	32688447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32688447C>T	ENST00000421745.2	+	24	5073	c.4939C>T	c.(4939-4941)Cag>Tag	p.Q1647*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1647					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTTCAGCAACAGGTTGGAGA	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(4939-4941)Cag>Tag		baculoviral IAP repeat containing 6							60.0	57.0	58.0					2																	32688447		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32688447C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4939C>T	2.37:g.32688447C>T	ENSP00000393596:p.Gln1647*						p.Q1647*	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			24	5073	+	Acute lymphoblastic leukemia(172;0.155)		1647					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.4939C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	46	12.421780	0.99666	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.3907	0.94581	0.0:1.0:0.0:0.0	.	.	.	.	X	1647	.	ENSP00000393596:Q1647X	Q	+	1	0	BIRC6	32541951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.595000	0.87683	0.650000	0.86243	CAG		0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	13	0	0	0	1	0	9	13				
SF3B3	23450	broad.mit.edu	37	16	70599032	70599032	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70599032T>C	ENST00000302516.5	+	19	2739	c.2528T>C	c.(2527-2529)cTc>cCc	p.L843P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	843					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCAGCATTCCTCAATGAAAAC	0.537																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2527-2529)cTc>cCc		splicing factor 3b, subunit 3, 130kDa							99.0	98.0	99.0					16																	70599032		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70599032T>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2528T>C	16.37:g.70599032T>C	ENSP00000305790:p.Leu843Pro						p.L843P	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			19	2739	+		Ovarian(137;0.0694)	843					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2528T>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701339	0.48307	.	.	ENSG00000189091	ENST00000302516	T	0.32515	1.45	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	L	0.59436	1.845	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.05338	-1.0891	10	0.30854	T	0.27	-7.8038	16.4484	0.83959	0.0:0.0:0.0:1.0	.	843	Q15393	SF3B3_HUMAN	P	843	ENSP00000305790:L843P	ENSP00000305790:L843P	L	+	2	0	SF3B3	69156533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	2.285000	0.76669	0.533000	0.62120	CTC		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	83	0	0	0	1	0	6	83				
POLR3A	11128	broad.mit.edu	37	10	79784456	79784456	+	Missense_Mutation	SNP	C	C	T	rs370515749		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79784456C>T	ENST00000372371.3	-	5	633	c.496G>A	c.(496-498)Gta>Ata	p.V166I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	166					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACTTCTTTACGGTACCTATA	0.323																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(496-498)Gta>Ata		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa		C	ILE/VAL	0,4406		0,0,2203	84.0	85.0	85.0		496	5.4	1.0	10		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	POLR3A	NM_007055.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	166/1391	79784456	1,13005	2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79784456C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.496G>A	10.37:g.79784456C>T	ENSP00000361446:p.Val166Ile						p.V166I	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		5	633	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		166					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.496G>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176207	0.78564	0.0	1.16E-4	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.66280	-0.2	5.41	5.41	0.78517	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69684	-0.5079	9	.	.	.	-15.0159	19.1947	0.93682	0.0:1.0:0.0:0.0	.	166	O14802	RPC1_HUMAN	I	166	ENSP00000361446:V166I	.	V	-	1	0	POLR3A	79454462	1.000000	0.71417	0.992000	0.48379	0.672000	0.39443	7.246000	0.78247	2.544000	0.85801	0.555000	0.69702	GTA		0.323	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		22	45	0	0	0	1	0	22	45				
SYCP2	10388	broad.mit.edu	37	20	58448959	58448959	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58448959G>T	ENST00000357552.3	-	35	3732	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L	SYCP2_ENST00000371001.2_Missense_Mutation_p.F1169L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1169					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGCACACAGGAAGTTTTTCT	0.338																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3505-3507)ttC>ttA		synaptonemal complex protein 2							166.0	142.0	150.0					20																	58448959		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58448959G>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3507C>A	20.37:g.58448959G>T	ENSP00000350162:p.Phe1169Leu					SYCP2_ENST00000371001.2_Missense_Mutation_p.F1169L	p.F1169L			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3732	-	all_lung(29;0.00344)		1169					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3507C>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.921312	0.00498	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.09538	2.97;2.97	4.03	-4.23	0.03789	.	2.285240	0.01657	N	0.024870	T	0.02807	0.0084	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38887	-0.9640	10	0.06494	T	0.89	0.0503	5.8729	0.18812	0.0:0.3559:0.2784:0.3657	.	1169	Q9BX26	SYCP2_HUMAN	L	1169	ENSP00000360040:F1169L;ENSP00000350162:F1169L	ENSP00000350162:F1169L	F	-	3	2	SYCP2	57882354	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-0.338000	0.07842	-0.735000	0.04837	-0.457000	0.05445	TTC		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	40	1	0	0.000157383	1	0.00017284	8	40				
CCDC82	79780	broad.mit.edu	37	11	96117847	96117847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117847G>A	ENST00000278520.5	-	3	493	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CCDC82_ENST00000423339.2_Missense_Mutation_p.S22F|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000542662.1_Missense_Mutation_p.S22F			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	22										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATCAACTCGAGATTTCTGCTC	0.348																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(64-66)tCt>tTt		coiled-coil domain containing 82							81.0	77.0	78.0					11																	96117847		2200	4296	6496	SO:0001583	missense	79780						protein binding	g.chr11:96117847G>A	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.65C>T	11.37:g.96117847G>A	ENSP00000278520:p.Ser22Phe					CCDC82_ENST00000542662.1_Missense_Mutation_p.S22F|CCDC82_ENST00000423339.2_Missense_Mutation_p.S22F	p.S22F			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	493	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	22					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.65C>T	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322463	0.81580	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.54071	0.79;0.79;0.79;0.59	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	T	0.73032	0.3535	M	0.70595	2.14	0.42298	D	0.992161	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74659	-0.3591	10	0.87932	D	0	-15.0099	18.1503	0.89672	0.0:0.0:1.0:0.0	.	22;22	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	F	22	ENSP00000278520:S22F;ENSP00000444010:S22F;ENSP00000397156:S22F;ENSP00000442723:S22F	ENSP00000278520:S22F	S	-	2	0	CCDC82	95757495	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.631000	0.67812	2.885000	0.99019	0.655000	0.94253	TCT		0.348	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		20	29	0	0	0	1	0	20	29				
EXOC2	55770	broad.mit.edu	37	6	491132	491132	+	Missense_Mutation	SNP	C	C	T	rs368272774		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:491132C>T	ENST00000230449.4	-	26	2749	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	EXOC2_ENST00000448181.3_Missense_Mutation_p.E467K	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	872					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACTTGCTTTCGGGTGTCAGG	0.383																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2614-2616)Gaa>Aaa		exocyst complex component 2		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	145.0	150.0	148.0		2614	5.8	1.0	6		148	0,8600		0,0,4300	no	missense	EXOC2	NM_018303.4	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	872/925	491132	1,13005	2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:491132C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2614G>A	6.37:g.491132C>T	ENSP00000230449:p.Glu872Lys					EXOC2_ENST00000448181.3_Missense_Mutation_p.E467K	p.E872K	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	26	2749	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	872					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.2614G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077670	0.55753	2.27E-4	0.0	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.45276	0.9;0.9	5.77	5.77	0.91146	.	0.205916	0.52532	D	0.000074	T	0.21631	0.0521	L	0.38175	1.15	0.80722	D	1	B	0.32128	0.357	B	0.19666	0.026	T	0.02975	-1.1087	10	0.30854	T	0.27	-1.0061	20.0027	0.97425	0.0:1.0:0.0:0.0	.	872	Q96KP1	EXOC2_HUMAN	K	872;467	ENSP00000230449:E872K;ENSP00000398113:E467K	ENSP00000230449:E872K	E	-	1	0	EXOC2	436132	1.000000	0.71417	0.953000	0.39169	0.489000	0.33432	7.351000	0.79395	2.722000	0.93159	0.637000	0.83480	GAA		0.383	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		7	157	0	0	0	1	0	7	157				
OR51F1	256892	broad.mit.edu	37	11	4790544	4790544	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4790544A>C	ENST00000380383.1	-	1	624	c.625T>G	c.(625-627)Tta>Gta	p.L209V	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L202V|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGATCAATTAATCCACAGATG	0.398																																						ENST00000380383.1																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(625-627)Tta>Gta		olfactory receptor, family 51, subfamily F, member 1							152.0	146.0	148.0					11																	4790544		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790544A>C	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.625T>G	11.37:g.4790544A>C	ENSP00000369744:p.Leu209Val					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L202V	p.L209V			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	624	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	202						Missense_Mutation	SNP	ENST00000380383.1	37	c.625T>G		.	.	.	.	.	.	.	.	.	.	A	12.38	1.919768	0.33908	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00164	8.64;8.64	5.03	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001099	T	0.00356	0.0011	M	0.85197	2.74	0.09310	N	1	D	0.54772	0.968	P	0.57548	0.823	T	0.33675	-0.9859	10	0.62326	D	0.03	.	6.4034	0.21650	0.7409:0.0:0.2591:0.0	.	209	A6NGY5	O51F1_HUMAN	V	202;209	ENSP00000345163:L202V;ENSP00000369744:L209V	ENSP00000345163:L202V	L	-	1	2	OR51F1	4747120	0.000000	0.05858	0.512000	0.27736	0.463000	0.32649	-0.104000	0.10923	0.892000	0.36259	0.533000	0.62120	TTA		0.398	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		63	65	0	0	0	1	0	63	65				
INPPL1	3636	broad.mit.edu	37	11	71943759	71943759	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71943759A>G	ENST00000298229.2	+	15	2006	c.1802A>G	c.(1801-1803)cAc>cGc	p.H601R	INPPL1_ENST00000541756.1_Missense_Mutation_p.H359R|INPPL1_ENST00000538751.1_Missense_Mutation_p.H359R	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	601					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGTTTCACACACCTCTTCTGG	0.592																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1801-1803)cAc>cGc		inositol polyphosphate phosphatase-like 1							97.0	92.0	94.0					11																	71943759		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71943759A>G	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1802A>G	11.37:g.71943759A>G	ENSP00000298229:p.His601Arg					INPPL1_ENST00000541756.1_Missense_Mutation_p.H359R|INPPL1_ENST00000538751.1_Missense_Mutation_p.H359R	p.H601R	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			15	2006	+			601					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1802A>G	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	a	24.9	4.577292	0.86645	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.80304	-1.36;-1.36;-1.36	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	L	0.58354	1.805	0.53688	D	0.999978	D	0.89917	1.0	D	0.85130	0.997	D	0.88348	0.2979	10	0.72032	D	0.01	.	13.6816	0.62489	1.0:0.0:0.0:0.0	.	601	O15357	SHIP2_HUMAN	R	601;359;359	ENSP00000298229:H601R;ENSP00000446360:H359R;ENSP00000444619:H359R	ENSP00000298229:H601R	H	+	2	0	INPPL1	71621407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.884000	0.92432	2.183000	0.69458	0.459000	0.35465	CAC		0.592	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		21	52	0	0	0	1	0	21	52				
FBN3	84467	broad.mit.edu	37	19	8191660	8191660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191660C>T	ENST00000600128.1	-	19	2767	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S	FBN3_ENST00000601739.1_Missense_Mutation_p.G785S|FBN3_ENST00000270509.2_Missense_Mutation_p.G785S			Q75N90	FBN3_HUMAN	fibrillin 3	785	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGTAGGAGCCGGCCAGGTTC	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2353-2355)Ggc>Agc		fibrillin 3							35.0	37.0	36.0					19																	8191660		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191660C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2353G>A	19.37:g.8191660C>T	ENSP00000470498:p.Gly785Ser					FBN3_ENST00000270509.2_Missense_Mutation_p.G785S|FBN3_ENST00000601739.1_Missense_Mutation_p.G785S	p.G785S			Q75N90	FBN3_HUMAN			19	2767	-			785			EGF-like 10; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2353G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.54	2.566379	0.45694	.	.	ENSG00000142449	ENST00000270509	D	0.99552	-6.15	3.52	2.45	0.29901	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.98538	0.9512	M	0.79258	2.445	0.52099	D	0.999945	P	0.39003	0.654	B	0.30716	0.119	D	0.96676	0.9500	10	0.72032	D	0.01	.	10.9608	0.47385	0.0:0.9048:0.0:0.0952	.	785	Q75N90	FBN3_HUMAN	S	785	ENSP00000270509:G785S	ENSP00000270509:G785S	G	-	1	0	FBN3	8097660	1.000000	0.71417	0.585000	0.28666	0.165000	0.22458	7.000000	0.76290	0.465000	0.27167	0.491000	0.48974	GGC		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		8	14	0	0	0	1	0	8	14				
WBSCR16	81554	broad.mit.edu	37	7	74470046	74470046	+	Missense_Mutation	SNP	C	C	T	rs140481718		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74470046C>T	ENST00000329959.4	-	9	1248	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	WBSCR16_ENST00000503250.2_Missense_Mutation_p.R398H	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	398							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACATCGGATGCGGGAAACCTG	0.542																																						ENST00000503250.2																			0				kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1192-1194)cGc>cAc		Williams-Beuren syndrome chromosome region 16							66.0	69.0	68.0					7																	74470046		2203	4300	6503	SO:0001583	missense	81554							g.chr7:74470046C>T	AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.1193G>A	7.37:g.74470046C>T	ENSP00000333799:p.Arg398His					WBSCR16_ENST00000329959.4_Missense_Mutation_p.R398H	p.R398H			Q96I51	WBS16_HUMAN			9	1262	-			398					D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Missense_Mutation	SNP	ENST00000329959.4	37	c.1193G>A	CCDS5577.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062305	0.36373	.	.	ENSG00000174374	ENST00000503250;ENST00000329959	T;T	0.80214	-1.35;-1.35	4.96	-3.98	0.04082	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.853589	0.10768	N	0.636404	T	0.72622	0.3483	M	0.65975	2.015	0.19575	N	0.999963	B;B	0.17268	0.021;0.004	B;B	0.11329	0.006;0.002	T	0.57602	-0.7783	10	0.30078	T	0.28	-2.8915	7.5542	0.27814	0.1147:0.3053:0.0:0.58	.	398;398	F5H6C7;Q96I51	.;WBS16_HUMAN	H	398	ENSP00000437702:R398H;ENSP00000333799:R398H	ENSP00000333799:R398H	R	-	2	0	WBSCR16	74107982	0.000000	0.05858	0.000000	0.03702	0.946000	0.59487	-0.710000	0.05024	-0.687000	0.05162	0.462000	0.41574	CGC		0.542	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252740.1	NM_030798		23	12	0	0	0	1	0	23	12				
MYOF	26509	broad.mit.edu	37	10	95169331	95169331	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95169331T>C	ENST00000359263.4	-	6	598	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	MYOF_ENST00000371502.4_Splice_Site_p.Q200R|MYOF_ENST00000358334.5_Splice_Site_p.Q200R|MYOF_ENST00000371501.4_Splice_Site_p.Q200R|MYOF_ENST00000371489.1_Splice_Site_p.Q200R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	200	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGTTGCTACCTGGAAGTCCTG	0.502																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e6+1		myoferlin							178.0	174.0	175.0					10																	95169331		1925	4133	6058	SO:0001630	splice_region_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95169331T>C	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.600+1A>G	10.37:g.95169331T>C						MYOF_ENST00000371489.1_Splice_Site_p.Q200_splice|MYOF_ENST00000359263.4_Splice_Site_p.Q200_splice|MYOF_ENST00000358334.5_Splice_Site_p.Q200_splice|MYOF_ENST00000371502.4_Splice_Site_p.Q200_splice	p.Q200_splice			Q9NZM1	MYOF_HUMAN			6	721	-			200			C2 2.|Necessary for interaction with EHD2.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Splice_Site	SNP	ENST00000359263.4	37	c.600_splice	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342191	0.81911	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.32	5.32	0.75619	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.89214	3.015	0.58432	D	0.999999	D;D;P	0.63046	0.992;0.99;0.947	D;D;P	0.68192	0.956;0.947;0.629	D	0.92434	0.5956	10	0.72032	D	0.01	-14.3878	15.2741	0.73728	0.0:0.0:0.0:1.0	.	182;200;200	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	R	200	ENSP00000351094:Q200R;ENSP00000352208:Q200R;ENSP00000360556:Q200R;ENSP00000360557:Q200R;ENSP00000360544:Q200R	ENSP00000351094:Q200R	Q	-	2	0	MYOF	95159321	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.807000	0.86032	2.028000	0.59812	0.379000	0.24179	CAG		0.502	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	Missense_Mutation	15	228	0	0	0	1	0	15	228				
CNST	163882	broad.mit.edu	37	1	246829045	246829045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246829045C>T	ENST00000366513.4	+	11	2285	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	672					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCTTGCTGTGCATAGCAACGG	0.448																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(2014-2016)tgC>tgT		consortin, connexin sorting protein							197.0	172.0	181.0					1																	246829045		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246829045C>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.2016C>T	1.37:g.246829045C>T							p.C672C	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			11	2285	+			672					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.2016C>T	CCDS1628.1																																																																																				0.448	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		34	62	0	0	0	1	0	34	62				
FUS	2521	broad.mit.edu	37	16	31199645	31199645	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31199645G>T	ENST00000254108.7	+	8	904		c.e8-1		FUS_ENST00000380244.3_Splice_Site|FUS_ENST00000568685.1_Splice_Site|FUS_ENST00000474990.1_Splice_Site	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein						cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTCACTAAAGGCCCTCGGGA	0.418			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.e8-1		fused in sarcoma							77.0	79.0	78.0					16																	31199645		2197	4300	6497	SO:0001630	splice_region_variant	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31199645G>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.800-1G>T	16.37:g.31199645G>T						FUS_ENST00000380244.3_Splice_Site|FUS_ENST00000474990.1_Splice_Site|FUS_ENST00000568685.1_Splice_Site		NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	8	904	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)						Q9H4A8	Splice_Site	SNP	ENST00000254108.7	37		CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436369	0.62955	.	.	ENSG00000089280	ENST00000254108;ENST00000380244;ENST00000394533	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9095	0.70746	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FUS	31107146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.072000	0.57563	2.225000	0.72522	0.491000	0.48974	.		0.418	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960	Intron	24	38	1	0	1.55469e-16	1	2.00715e-16	24	38				
ACO1	48	broad.mit.edu	37	9	32425917	32425917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32425917C>A	ENST00000309951.6	+	11	1408	c.1270C>A	c.(1270-1272)Ctt>Att	p.L424I	ACO1_ENST00000379923.1_Missense_Mutation_p.L424I|ACO1_ENST00000541043.1_Missense_Mutation_p.L325I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	424					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGAATTCACCCTTGCTCATGG	0.413																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(1270-1272)Ctt>Att		aconitase 1, soluble							147.0	113.0	124.0					9																	32425917		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32425917C>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1270C>A	9.37:g.32425917C>A	ENSP00000309477:p.Leu424Ile					ACO1_ENST00000309951.5_Missense_Mutation_p.L424I|ACO1_ENST00000541043.1_Missense_Mutation_p.L325I	p.L424I	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	12	1476	+			424					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1270C>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959740	0.74016	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.53423	0.62;0.62;0.62	5.59	5.59	0.84812	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	L	0.39326	1.205	0.80722	D	1	B;B	0.28783	0.222;0.02	P;B	0.46320	0.512;0.097	T	0.52223	-0.8604	10	0.39692	T	0.17	-17.7438	18.7362	0.91756	0.0:1.0:0.0:0.0	.	460;424	Q59FI0;P21399	.;ACOC_HUMAN	I	460;424;424;424;325	ENSP00000309477:L424I;ENSP00000369255:L424I;ENSP00000438733:L325I	ENSP00000309477:L424I	L	+	1	0	ACO1	32415917	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	3.970000	0.56824	2.782000	0.95742	0.557000	0.71058	CTT		0.413	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		4	56	1	0	0.00909568	1	0.00947522	4	56				
ZNF7	7553	broad.mit.edu	37	8	146068162	146068162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146068162A>C	ENST00000528372.1	+	5	1910	c.1670A>C	c.(1669-1671)gAa>gCa	p.E557A	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.E461A|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.E568A|ZNF7_ENST00000325241.6_Missense_Mutation_p.E557A			P17097	ZNF7_HUMAN	zinc finger protein 7	557					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AAATGTAATGAATGTGGGAAA	0.463																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1669-1671)gAa>gCa		zinc finger protein 7							103.0	110.0	108.0					8																	146068162		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068162A>C	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1670A>C	8.37:g.146068162A>C	ENSP00000432724:p.Glu557Ala					ZNF7_ENST00000325241.6_Missense_Mutation_p.E557A|ZNF7_ENST00000544249.1_Missense_Mutation_p.E461A|ZNF7_ENST00000446747.2_Missense_Mutation_p.E568A|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron	p.E557A			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	1910	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	557					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.1670A>C	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691641	0.48097	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.75	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000322	T	0.16471	0.0396	L	0.56280	1.765	0.20821	N	0.999841	B;B	0.15141	0.012;0.012	B;B	0.15484	0.013;0.013	T	0.16988	-1.0384	9	.	.	.	-21.9352	10.7611	0.46266	0.8402:0.1598:0.0:0.0	.	568;557	B4DT08;P17097	.;ZNF7_HUMAN	A	557;568;461;557	ENSP00000320627:E557A;ENSP00000393260:E568A;ENSP00000439424:E461A;ENSP00000432724:E557A	.	E	+	2	0	ZNF7	146038966	0.002000	0.14202	0.805000	0.32314	0.980000	0.70556	1.715000	0.37971	0.817000	0.34445	0.533000	0.62120	GAA		0.463	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		37	74	0	0	0	1	0	37	74				
ZZEF1	23140	broad.mit.edu	37	17	4027225	4027225	+	Missense_Mutation	SNP	G	G	T	rs78111743	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4027225G>T	ENST00000381638.2	-	2	599	c.475C>A	c.(475-477)Cta>Ata	p.L159I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	159							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGGCCTGTAGTTGTCTGATG	0.478																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(475-477)Cta>Ata		zinc finger, ZZ-type with EF-hand domain 1							135.0	104.0	114.0					17																	4027225		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4027225G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.475C>A	17.37:g.4027225G>T	ENSP00000371051:p.Leu159Ile					ZZEF1_ENST00000574474.1_5'UTR	p.L159I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			2	599	-			159					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.475C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389249	0.82902	.	.	ENSG00000074755	ENST00000381638	T	0.42513	0.97	4.9	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	M	0.62723	1.935	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.63902	-0.6532	10	0.87932	D	0	-7.5918	13.1534	0.59503	0.0777:0.0:0.9223:0.0	.	159;159	O43149-3;O43149	.;ZZEF1_HUMAN	I	159	ENSP00000371051:L159I	ENSP00000371051:L159I	L	-	1	2	ZZEF1	3973974	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	9.476000	0.97823	1.051000	0.40369	0.563000	0.77884	CTA		0.478	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		12	17	1	0	0.00136819	1	0.00146042	12	17				
EHD3	30845	broad.mit.edu	37	2	31489453	31489453	+	Silent	SNP	C	C	T	rs541802949		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31489453C>T	ENST00000322054.5	+	6	1776	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	497	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCATGCTGGACGACGACGAGT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19060	0.001		0.0	False		,,,				2504	0.0					ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1489-1491)gaC>gaT		EH-domain containing 3							114.0	100.0	105.0					2																	31489453		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31489453C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1491C>T	2.37:g.31489453C>T						EHD3_ENST00000541626.1_3'UTR	p.D497D	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			6	1776	+	Acute lymphoblastic leukemia(172;0.155)		497			EF-hand.|EH.		B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.1491C>T	CCDS1774.1																																																																																				0.602	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		26	43	0	0	0	1	0	26	43				
ZNF213	7760	broad.mit.edu	37	16	3191053	3191053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3191053G>A	ENST00000396878.3	+	6	1560	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ZNF213_ENST00000576416.1_Missense_Mutation_p.R362H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R362H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R204H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	362					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCTGGTGCGCCACCAAGGC	0.677																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(1084-1086)cGc>cAc		zinc finger protein 213							35.0	32.0	33.0					16																	3191053		2197	4299	6496	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3191053G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1085G>A	16.37:g.3191053G>A	ENSP00000380087:p.Arg362His					ZNF213_ENST00000416391.2_Missense_Mutation_p.R204H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R362H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R362H	p.R362H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			6	1560	+			362					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.1085G>A	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473917	0.43942	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.07567	3.18;3.18	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000473	T	0.24736	0.0600	M	0.75615	2.305	0.21355	N	0.999715	D	0.89917	1.0	D	0.70016	0.967	T	0.04885	-1.0920	10	0.62326	D	0.03	.	9.0964	0.36642	0.1001:0.0:0.8999:0.0	.	362	O14771	ZN213_HUMAN	H	362;204	ENSP00000380087:R362H;ENSP00000403892:R204H	ENSP00000380087:R362H	R	+	2	0	ZNF213	3131054	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.473000	0.06615	2.222000	0.72286	0.462000	0.41574	CGC		0.677	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		12	18	0	0	0	1	0	12	18				
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(142-144)aaG>aaT		autophagy related 7							167.0	158.0	161.0					3																	11340313		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11340313G>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.144G>T	3.37:g.11340313G>T	ENSP00000346437:p.Lys48Asn					ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			2	169	+			48					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.144G>T	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492548	0.44352	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52905	1.665	0.52099	D	0.999946	B;B;B	0.33266	0.215;0.404;0.282	B;B;B	0.32677	0.07;0.15;0.072	T	0.10730	-1.0617	10	0.13853	T	0.58	-24.377	14.969	0.71217	0.0693:0.0:0.9307:0.0	.	48;48;48	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	N	48	ENSP00000415223:K48N;ENSP00000390547:K48N;ENSP00000411880:K48N;ENSP00000389996:K48N;ENSP00000412580:K48N;ENSP00000347042:K48N;ENSP00000346437:K48N;ENSP00000408303:K48N;ENSP00000416644:K48N	ENSP00000346437:K48N	K	+	3	2	ATG7	11315313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.722000	0.47269	2.941000	0.99782	0.655000	0.94253	AAG		0.428	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		8	124	1	0	0.00448238	1	0.00472561	8	124				
MFAP5	8076	broad.mit.edu	37	12	8803149	8803149	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8803149T>C	ENST00000359478.2	-	8	471	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	MFAP5_ENST00000396549.2_Missense_Mutation_p.Y85C|MFAP5_ENST00000543369.1_Missense_Mutation_p.Y73C|MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000433590.2_Missense_Mutation_p.Y70C|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000540087.1_Missense_Mutation_p.Y85C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	95					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATGCACAGAGTAGAGCCTTGT	0.433																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(283-285)tAc>tGc		microfibrillar associated protein 5							122.0	105.0	111.0					12																	8803149		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8803149T>C	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.284A>G	12.37:g.8803149T>C	ENSP00000352455:p.Tyr95Cys					MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000433590.2_Missense_Mutation_p.Y70C|MFAP5_ENST00000396549.2_Missense_Mutation_p.Y85C|MFAP5_ENST00000543369.1_Missense_Mutation_p.Y73C|MFAP5_ENST00000540087.1_Missense_Mutation_p.Y85C	p.Y95C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			8	471	-	Lung SC(5;0.184)		95					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.284A>G	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.03|18.03	3.533353|3.533353	0.64972|0.64972	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000535411|ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000540087	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.75824|0.75824	0.3902|0.3902	M|M	0.72894|0.72894	2.215|2.215	0.43130|0.43130	D|D	0.99486|0.99486	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.75020	.|0.964;0.985;0.964	T|T	0.78957|0.78957	-0.1999|-0.1999	5|9	.|0.87932	.|D	.|0	-15.5318|-15.5318	11.1563|11.1563	0.48489|0.48489	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|70;95;85	.|B3KW70;Q13361;Q7Z490	.|.;MFAP5_HUMAN;.	A|C	85|1;95;70;85;73;85	.|.	.|ENSP00000352455:Y95C	T|Y	-|-	1|2	0|0	MFAP5|MFAP5	8694416|8694416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	3.848000|3.848000	0.55903|0.55903	2.136000|2.136000	0.66102|0.66102	0.455000|0.455000	0.32223|0.32223	ACT|TAC		0.433	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		14	26	0	0	0	1	0	14	26				
GIMAP8	155038	broad.mit.edu	37	7	150174255	150174255	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174255T>C	ENST00000307271.3	+	5	1959	c.1385T>C	c.(1384-1386)cTc>cCc	p.L462P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	462	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTGGGGAGCCTCGTCTTCACC	0.587																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1384-1386)cTc>cCc		GTPase, IMAP family member 8							73.0	74.0	73.0					7																	150174255		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174255T>C	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1385T>C	7.37:g.150174255T>C	ENSP00000305107:p.Leu462Pro						p.L462P	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	1959	+			462						Missense_Mutation	SNP	ENST00000307271.3	37	c.1385T>C	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	1.341	-0.594092	0.03771	.	.	ENSG00000171115	ENST00000307271	T	0.32988	1.43	4.44	-4.51	0.03483	AIG1 (1);	3.538060	0.00907	N	0.002436	T	0.15132	0.0365	N	0.13140	0.3	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.10753	-1.0616	10	0.23302	T	0.38	.	3.1515	0.06489	0.4906:0.1771:0.2428:0.0895	.	462	Q8ND71	GIMA8_HUMAN	P	462	ENSP00000305107:L462P	ENSP00000305107:L462P	L	+	2	0	GIMAP8	149805188	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.116000	0.03286	-0.455000	0.07054	-0.242000	0.12053	CTC		0.587	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		8	83	0	0	0	1	0	8	83				
PEX5L	51555	broad.mit.edu	37	3	179576924	179576924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179576924G>A	ENST00000467460.1	-	8	1078	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PEX5L_ENST00000485199.1_Missense_Mutation_p.R215C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R191C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.R142C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R58C|PEX5L_ENST00000465751.1_Missense_Mutation_p.R226C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R248C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R207C|PEX5L_ENST00000392649.3_Missense_Mutation_p.R142C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTCCCCAGCGATGTTCTTTG	0.358																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(748-750)Cgc>Tgc		peroxisomal biogenesis factor 5-like							115.0	113.0	114.0					3																	179576924		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179576924G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.748C>T	3.37:g.179576924G>A	ENSP00000419975:p.Arg250Cys					PEX5L_ENST00000476138.1_Missense_Mutation_p.R207C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R248C|PEX5L_ENST00000485199.1_Missense_Mutation_p.R215C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.R142C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R58C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R142C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R191C|PEX5L_ENST00000465751.1_Missense_Mutation_p.R226C	p.R250C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		8	1078	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		250					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.748C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371184	0.82573	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.88818	-2.42;-2.43;-2.4;-2.34;-2.35;-2.4;-2.4;-2.34;-2.41	5.76	5.76	0.90799	.	0.054019	0.85682	D	0.000000	D	0.92502	0.7619	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.99;1.0;1.0;1.0	D;D;B;D;D;D	0.75020	0.985;0.912;0.333;0.982;0.951;0.959	D	0.92786	0.6244	10	0.72032	D	0.01	-8.1557	18.8213	0.92099	0.0:0.0:1.0:0.0	.	191;226;142;248;215;250	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	C	250;248;215;248;142;58;207;138;191;142;226;58	ENSP00000419975:R250C;ENSP00000263962:R248C;ENSP00000418440:R215C;ENSP00000376420:R142C;ENSP00000418665:R58C;ENSP00000420555:R207C;ENSP00000418054:R191C;ENSP00000417270:R142C;ENSP00000419348:R226C	ENSP00000263962:R248C	R	-	1	0	PEX5L	181059618	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.135000	0.71696	2.754000	0.94517	0.558000	0.71614	CGC		0.358	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		20	37	0	0	0	1	0	20	37				
PCDH19	57526	broad.mit.edu	37	X	99551661	99551661	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99551661C>A	ENST00000373034.4	-	6	4736	c.3061G>T	c.(3061-3063)Gat>Tat	p.D1021Y	PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000420881.2_Missense_Mutation_p.D973Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D974Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1021					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCGCTGACATCTTTCCCAAAG	0.562																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(3061-3063)Gat>Tat		protocadherin 19							78.0	79.0	78.0					X																	99551661		2136	4217	6353	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551661C>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3061G>T	X.37:g.99551661C>A	ENSP00000362125:p.Asp1021Tyr					PCDH19_ENST00000420881.2_Missense_Mutation_p.D973Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D974Y	p.D1021Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			6	4736	-			1021					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.3061G>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523039	0.64747	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.64085	0.16;-0.08;0.16	5.73	5.73	0.89815	.	0.052620	0.85682	D	0.000000	T	0.77267	0.4105	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.986	P;D;P	0.65684	0.879;0.937;0.867	T	0.79172	-0.1913	10	0.87932	D	0	.	18.9069	0.92466	0.0:1.0:0.0:0.0	.	1021;974;973	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Y	973;1021;974	ENSP00000400327:D973Y;ENSP00000362125:D1021Y;ENSP00000255531:D974Y	ENSP00000255531:D974Y	D	-	1	0	PCDH19	99438317	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.447000	0.80620	2.413000	0.81919	0.600000	0.82982	GAT		0.562	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		16	40	1	0	6.31663e-08	1	7.49729e-08	16	40				
ZFP42	132625	broad.mit.edu	37	4	188924381	188924381	+	Silent	SNP	G	G	A	rs376814965		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924381G>A	ENST00000326866.4	+	4	828	c.420G>A	c.(418-420)tcG>tcA	p.S140S	ZFP42_ENST00000509524.1_Silent_p.S140S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	140					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAGAGAATTCGCTTGAGTATT	0.423																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(418-420)tcG>tcA		ZFP42 zinc finger protein		G		0,4406		0,0,2203	97.0	108.0	104.0		420	1.4	0.0	4		104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZFP42	NM_174900.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		140/311	188924381	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924381G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.420G>A	4.37:g.188924381G>A						ZFP42_ENST00000509524.1_Silent_p.S140S	p.S140S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	828	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	140					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.420G>A	CCDS3849.1																																																																																				0.423	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		49	67	0	0	0	1	0	49	67				
NFATC1	4772	broad.mit.edu	37	18	77211710	77211710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77211710G>T	ENST00000427363.2	+	6	1797	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	NFATC1_ENST00000545796.1_Missense_Mutation_p.E127D|NFATC1_ENST00000253506.5_Missense_Mutation_p.E599D|NFATC1_ENST00000592223.1_Missense_Mutation_p.E586D|NFATC1_ENST00000542384.1_Missense_Mutation_p.E599D|NFATC1_ENST00000587635.1_Missense_Mutation_p.R571I|NFATC1_ENST00000329101.4_Missense_Mutation_p.E586D|NFATC1_ENST00000397790.2_Missense_Mutation_p.E127D|NFATC1_ENST00000591814.1_Missense_Mutation_p.E599D|NFATC1_ENST00000318065.5_Missense_Mutation_p.E586D|NFATC1_ENST00000586434.1_Missense_Mutation_p.E586D			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	599					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CTCTGGTGGAGAAGCAGAGCA	0.622																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1795-1797)gaG>gaT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							66.0	63.0	64.0					18																	77211710		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77211710G>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1797G>T	18.37:g.77211710G>T	ENSP00000389377:p.Glu599Asp					NFATC1_ENST00000591814.1_Missense_Mutation_p.E599D|NFATC1_ENST00000592223.1_Missense_Mutation_p.E586D|NFATC1_ENST00000427363.2_Missense_Mutation_p.E599D|NFATC1_ENST00000586434.1_Missense_Mutation_p.E586D|NFATC1_ENST00000329101.4_Missense_Mutation_p.E586D|NFATC1_ENST00000587635.1_Missense_Mutation_p.R571I|NFATC1_ENST00000542384.1_Missense_Mutation_p.E599D|NFATC1_ENST00000397790.2_Missense_Mutation_p.E127D|NFATC1_ENST00000318065.5_Missense_Mutation_p.E586D|NFATC1_ENST00000545796.1_Missense_Mutation_p.E127D	p.E599D	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	6	2166	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	599					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1797G>T		.	.	.	.	.	.	.	.	.	.	G	16.47	3.131037	0.56828	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T;T	0.44083	1.53;1.53;1.53;1.53;1.53;0.93	4.65	4.65	0.58169	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.168587	0.51477	D	0.000083	T	0.38480	0.1042	L	0.39898	1.24	0.43761	D	0.996275	B;B;B;B;B;B	0.22146	0.009;0.009;0.005;0.065;0.014;0.005	B;B;B;B;B;B	0.23018	0.015;0.015;0.015;0.043;0.019;0.015	T	0.27773	-1.0064	10	0.52906	T	0.07	-38.7039	17.5278	0.87805	0.0:0.0:1.0:0.0	.	586;586;599;599;586;599	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.	D	599;599;127;599;586;127;586;563	ENSP00000253506:E599D;ENSP00000380892:E127D;ENSP00000442435:E599D;ENSP00000327850:E586D;ENSP00000439992:E127D;ENSP00000389377:E586D	ENSP00000253506:E599D	E	+	3	2	NFATC1	75312698	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.543000	0.45752	2.130000	0.65690	0.563000	0.77884	GAG		0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		4	38	1	0	0.00909568	1	0.00947522	4	38				
SYT6	148281	broad.mit.edu	37	1	114640391	114640391	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114640391T>C	ENST00000610222.1	-	6	1619	c.1473A>G	c.(1471-1473)gcA>gcG	p.A491A	SYT6_ENST00000393296.1_Silent_p.A491A|SYT6_ENST00000609117.1_Silent_p.A406A|SYT6_ENST00000607941.1_Silent_p.A406A|SYT6_ENST00000369547.1_Silent_p.A406A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	491	Necessary for cell membrane association (isoform 2). {ECO:0000250}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTGCCAGTGTGCGATGGGCT	0.567																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1471-1473)gcA>gcG		synaptotagmin VI							138.0	123.0	128.0					1																	114640391		2203	4300	6503	SO:0001819	synonymous_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114640391T>C		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1473A>G	1.37:g.114640391T>C						SYT6_ENST00000369547.1_Silent_p.A406A	p.A491A			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1550	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	491			Necessary for cell membrane association (isoform 2) (By similarity).		B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37	c.1473A>G																																																																																					0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		36	35	0	0	0	1	0	36	35				
KRR1	11103	broad.mit.edu	37	12	75897758	75897758	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897758T>C	ENST00000229214.4	-	7	780	c.757A>G	c.(757-759)Aaa>Gaa	p.K253E	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	253	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCCTTGCGTTTATTCACATTT	0.353																																						ENST00000229214.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(757-759)Aaa>Gaa		KRR1, small subunit (SSU) processome component, homolog (yeast)							205.0	190.0	195.0					12																	75897758		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75897758T>C	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.757A>G	12.37:g.75897758T>C	ENSP00000229214:p.Lys253Glu					KRR1_ENST00000438169.2_Intron	p.K253E	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			7	780	-			253			Lys-rich.		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.757A>G	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.017144	0.93404	.	.	ENSG00000111615	ENST00000229214	T	0.28895	1.59	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.90759	3.145	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.70995	-0.4720	10	0.66056	D	0.02	-0.8396	16.2612	0.82547	0.0:0.0:0.0:1.0	.	253	Q13601	KRR1_HUMAN	E	253	ENSP00000229214:K253E	ENSP00000229214:K253E	K	-	1	0	KRR1	74184025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.324000	0.79115	2.244000	0.73946	0.477000	0.44152	AAA		0.353	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		9	150	0	0	0	1	0	9	150				
ZNF562	54811	broad.mit.edu	37	19	9763660	9763660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9763660T>C	ENST00000448622.1	-	6	1408	c.1246A>G	c.(1246-1248)Agt>Ggt	p.S416G	ZNF562_ENST00000537617.1_Missense_Mutation_p.S300G|ZNF562_ENST00000453372.2_Missense_Mutation_p.S416G|ZNF562_ENST00000590155.1_Missense_Mutation_p.S415G|ZNF562_ENST00000453792.2_Missense_Mutation_p.S347G|ZNF562_ENST00000541032.1_Missense_Mutation_p.S379G|ZNF562_ENST00000293648.4_Missense_Mutation_p.S344G	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAATGTTTACTACGATGGGAA	0.403																																						ENST00000448622.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1246-1248)Agt>Ggt		zinc finger protein 562							91.0	85.0	87.0					19																	9763660		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9763660T>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1246A>G	19.37:g.9763660T>C	ENSP00000411784:p.Ser416Gly					ZNF562_ENST00000537617.1_Missense_Mutation_p.S300G|ZNF562_ENST00000541032.1_Missense_Mutation_p.S379G|ZNF562_ENST00000590155.1_Missense_Mutation_p.S415G|ZNF562_ENST00000453792.2_Missense_Mutation_p.S347G|ZNF562_ENST00000293648.4_Missense_Mutation_p.S344G|ZNF562_ENST00000453372.2_Missense_Mutation_p.S416G	p.S416G	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			6	1408	-			416					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.1246A>G	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	T	8.190	0.795709	0.16327	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41465	0.1160	L	0.34521	1.04	0.09310	N	1	P;B;B;P;P	0.39847	0.512;0.378;0.276;0.565;0.691	B;B;B;B;B	0.35353	0.154;0.074;0.057;0.099;0.201	T	0.27331	-1.0077	9	0.54805	T	0.06	.	7.3259	0.26555	0.0:0.0:0.0:1.0	.	300;415;379;416;344	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	G	416;416;344;379;347;300	ENSP00000410734:S416G;ENSP00000411784:S416G;ENSP00000293648:S344G;ENSP00000442614:S379G;ENSP00000440451:S347G;ENSP00000445816:S300G	ENSP00000293648:S344G	S	-	1	0	ZNF562	9624660	0.000000	0.05858	0.001000	0.08648	0.152000	0.21847	-0.095000	0.11077	1.013000	0.39391	0.260000	0.18958	AGT		0.403	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		18	39	0	0	0	1	0	18	39				
MBOAT2	129642	broad.mit.edu	37	2	8998833	8998833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8998833C>T	ENST00000305997.3	-	13	1737	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	MBOAT2_ENST00000486484.1_5'Flank	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	513					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGAATGTCTCGAGGCTATTT	0.373																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1537-1539)tcG>tcA		membrane bound O-acyltransferase domain containing 2							77.0	81.0	80.0					2																	8998833		2202	4299	6501	SO:0001819	synonymous_variant	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:8998833C>T	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1539G>A	2.37:g.8998833C>T							p.S513S	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			13	1737	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		513					A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	ENST00000305997.3	37	c.1539G>A	CCDS1660.1																																																																																				0.373	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		39	51	0	0	0	1	0	39	51				
SETD1A	9739	broad.mit.edu	37	16	30977389	30977389	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30977389G>A	ENST00000262519.8	+	8	2873	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	729					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACGGCTTGCCGTATGCTCTAT	0.672																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2185-2187)ccG>ccA		SET domain containing 1A							34.0	38.0	37.0					16																	30977389		2169	4267	6436	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977389G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2187G>A	16.37:g.30977389G>A							p.P729P	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2873	+			729					A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.2187G>A	CCDS32435.1																																																																																				0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		28	42	0	0	0	1	0	28	42				
SEC24B	10427	broad.mit.edu	37	4	110446649	110446649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110446649G>T	ENST00000265175.5	+	16	2835	c.2780G>T	c.(2779-2781)aGg>aTg	p.R927M	SEC24B_ENST00000399100.2_Missense_Mutation_p.R892M|SEC24B_ENST00000504968.2_Missense_Mutation_p.R957M	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	927					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATGAGAATAAGGTGTACTAAA	0.323																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2779-2781)aGg>aTg		SEC24 family member B							62.0	55.0	57.0					4																	110446649		1808	4070	5878	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110446649G>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2780G>T	4.37:g.110446649G>T	ENSP00000265175:p.Arg927Met					SEC24B_ENST00000399100.2_Missense_Mutation_p.R892M|SEC24B_ENST00000504968.2_Missense_Mutation_p.R957M	p.R927M	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	16	2835	+		Hepatocellular(203;0.217)	927					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2780G>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840623	0.91197	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.54866	0.55;0.55;0.55	5.83	5.83	0.93111	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.84206	0.5421	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89453	0.3731	10	0.87932	D	0	-16.3602	20.1338	0.98010	0.0:0.0:1.0:0.0	.	841;526;957;892;927	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	M	957;892;927	ENSP00000428564:R957M;ENSP00000382051:R892M;ENSP00000265175:R927M	ENSP00000265175:R927M	R	+	2	0	SEC24B	110666098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.867000	0.99620	2.770000	0.95276	0.655000	0.94253	AGG		0.323	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			5	38	1	0	0.000602214	1	0.000649039	5	38				
SYNCRIP	10492	broad.mit.edu	37	6	86332297	86332297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86332297C>T	ENST00000369622.3	-	8	1411	c.911G>A	c.(910-912)cGt>cAt	p.R304H	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R304H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	304	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CATTAACCTACGCCTTGCCTG	0.433																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(910-912)cGt>cAt		synaptotagmin binding, cytoplasmic RNA interacting protein							205.0	200.0	202.0					6																	86332297		2203	4297	6500	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332297C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.911G>A	6.37:g.86332297C>T	ENSP00000358635:p.Arg304His					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R304H	p.R304H	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1117	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	304			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.911G>A	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447516	0.96205	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.17370	2.28;2.28	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;1.0	D;D;P;D;D	0.75020	0.985;0.977;0.886;0.922;0.985	T	0.24333	-1.0163	10	0.87932	D	0	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	304;206;152;304;304	O60506;B7Z645;O60506-5;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.	H	304	ENSP00000347380:R304H;ENSP00000358635:R304H	ENSP00000347380:R304H	R	-	2	0	SYNCRIP	86389016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.768000	0.95171	0.655000	0.94253	CGT		0.433	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		83	194	0	0	0	1	0	83	194				
TYW1B	441250	broad.mit.edu	37	7	72209577	72209577	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72209577G>A	ENST00000435769.2	-	0	1088				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TCGGAGCATCGACTATGACAA	0.418																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							209.0	160.0	175.0					7																	72209577		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209577G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209577G>A										Q6NUM6	TYW1B_HUMAN			0	578	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.418	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	74	0	0	0	1	0	4	74				
ANXA4	307	broad.mit.edu	37	2	70031690	70031690	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70031690C>T	ENST00000394295.4	+	4	371	c.123C>T	c.(121-123)agC>agT	p.S41S	ANXA4_ENST00000409920.1_Silent_p.S41S|ANXA4_ENST00000536030.1_5'UTR	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	39					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCATTATTAGCGTCCTTGCCT	0.557																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(121-123)agC>agT		annexin A4							85.0	63.0	70.0					2																	70031690		2203	4300	6503	SO:0001819	synonymous_variant	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70031690C>T	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.123C>T	2.37:g.70031690C>T						ANXA4_ENST00000409920.1_Silent_p.S41S|ANXA4_ENST00000536030.1_5'UTR	p.S41S	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN			4	371	+			39					B4DDF9|Q96F33|Q9BWK1	Silent	SNP	ENST00000394295.4	37	c.123C>T	CCDS1894.1																																																																																				0.557	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		9	15	0	0	0	1	0	9	15				
SLTM	79811	broad.mit.edu	37	15	59182557	59182557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59182557C>A	ENST00000380516.2	-	15	2089	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Nonsense_Mutation_p.E237*	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	668	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTCAATTTCTAGGCGCTCT	0.458																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2002-2004)Gaa>Taa		SAFB-like, transcription modulator							115.0	118.0	117.0					15																	59182557		2192	4292	6484	SO:0001587	stop_gained	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182557C>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2002G>T	15.37:g.59182557C>A	ENSP00000369887:p.Glu668*					AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Nonsense_Mutation_p.E237*	p.E668*	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			15	2089	-			668			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Nonsense_Mutation	SNP	ENST00000380516.2	37	c.2002G>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	35	5.552930	0.96501	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	.	.	.	X	668;234;237	.	ENSP00000369887:E668X	E	-	1	0	SLTM	56969849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.326000	0.65875	2.777000	0.95525	0.655000	0.94253	GAA		0.458	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		59	97	1	0	5.86059e-21	1	7.70434e-21	59	97				
UNC5A	90249	broad.mit.edu	37	5	176297468	176297468	+	Silent	SNP	C	C	T	rs368683004		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176297468C>T	ENST00000329542.4	+	6	1093	c.819C>T	c.(817-819)aaC>aaT	p.N273N	UNC5A_ENST00000261961.3_Silent_p.N233N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	273	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCCCGCAACGGAGGGGAGG	0.642																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(817-819)aaC>aaT		unc-5 homolog A (C. elegans)		C		0,4406		0,0,2203	57.0	58.0	58.0		819	-8.8	0.4	5		58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	UNC5A	NM_133369.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		273/843	176297468	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176297468C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.819C>T	5.37:g.176297468C>T						UNC5A_ENST00000261961.3_Silent_p.N233N	p.N273N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1093	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	273			TSP type-1.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.819C>T	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	1.338	-0.594827	0.03771	0.0	1.16E-4	ENSG00000113763	ENST00000509580	.	.	.	4.41	-8.81	0.00813	.	.	.	.	.	T	0.64249	0.2581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74478	-0.3652	4	.	.	.	-25.7837	17.8968	0.88891	0.0:0.3124:0.0:0.6876	.	.	.	.	W	295	.	.	R	+	1	2	UNC5A	176230074	0.000000	0.05858	0.416000	0.26546	0.266000	0.26442	-3.265000	0.00534	-2.856000	0.00329	-2.024000	0.00429	CGG		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		4	58	0	0	0	1	0	4	58				
COL14A1	7373	broad.mit.edu	37	8	121279065	121279065	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121279065G>T	ENST00000297848.3	+	25	3286		c.e25-1		COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCCTTTACAGAATCACTTCC	0.393																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.e25-1		collagen, type XIV, alpha 1							235.0	218.0	224.0					8																	121279065		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121279065G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3017-1G>T	8.37:g.121279065G>T						COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site		NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		25	3286	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	SNP	ENST00000297848.3	37		CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623580	0.28889	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.	.	.	4.92	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8515	0.63499	0.0:0.1515:0.8485:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121348246	1.000000	0.71417	0.119000	0.21687	0.013000	0.08279	4.729000	0.62008	2.546000	0.85860	0.655000	0.94253	.		0.393	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	5	184	1	0	0.00198382	1	0.00210581	5	184				
SLC6A9	6536	broad.mit.edu	37	1	44468188	44468188	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44468188G>A	ENST00000360584.2	-	7	1264	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	SLC6A9_ENST00000537678.1_Missense_Mutation_p.A220V|SLC6A9_ENST00000372310.3_Missense_Mutation_p.A285V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A174V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A285V|SLC6A9_ENST00000357730.2_Missense_Mutation_p.A304V|SLC6A9_ENST00000372307.3_Missense_Mutation_p.A220V	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	358					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCACCTTGGCCTCCAGGAT	0.637																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(853-855)gCc>gTc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						80.0	83.0	82.0					1																	44468188		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44468188G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1073C>T	1.37:g.44468188G>A	ENSP00000353791:p.Ala358Val					SLC6A9_ENST00000360584.2_Missense_Mutation_p.A358V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A174V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A285V|SLC6A9_ENST00000372307.3_Missense_Mutation_p.A220V|SLC6A9_ENST00000357730.2_Missense_Mutation_p.A304V|SLC6A9_ENST00000537678.1_Missense_Mutation_p.A220V	p.A285V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			7	1019	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	358					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.854C>T	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892739	0.72524	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.25	4.25	0.50352	.	0.099995	0.64402	D	0.000002	T	0.78207	0.4247	L	0.33293	1	0.80722	D	1	P;B;P;P;P;D	0.62365	0.94;0.413;0.587;0.566;0.566;0.991	P;B;B;B;B;P	0.60609	0.65;0.145;0.348;0.274;0.274;0.877	T	0.81382	-0.0958	10	0.66056	D	0.02	.	17.1923	0.86883	0.0:0.0:1.0:0.0	.	289;285;220;285;304;358	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	V	220;285;285;174;358;304;220	ENSP00000361381:A220V;ENSP00000361380:A285V;ENSP00000361384:A285V;ENSP00000434460:A174V;ENSP00000353791:A358V;ENSP00000350362:A304V;ENSP00000442523:A220V	ENSP00000350362:A304V	A	-	2	0	SLC6A9	44240775	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.471000	0.73562	2.329000	0.79093	0.561000	0.74099	GCC		0.637	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		28	39	0	0	0	1	0	28	39				
ARHGAP21	57584	broad.mit.edu	37	10	24886401	24886401	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24886401C>A	ENST00000396432.2	-	16	3795	c.3309G>T	c.(3307-3309)gaG>gaT	p.E1103D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E890D|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1102					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCCTTTCCGACTCTTCCTTCG	0.398																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3307-3309)gaG>gaT		Rho GTPase activating protein 21							136.0	124.0	128.0					10																	24886401		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24886401C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3309G>T	10.37:g.24886401C>A	ENSP00000379709:p.Glu1103Asp					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E890D|ARHGAP21_ENST00000493154.1_5'UTR	p.E1103D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			16	3795	-			1102					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.3309G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756273	0.69648	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003	T;T;T;T	0.53206	2.74;2.87;0.74;0.63	6.17	3.34	0.38264	.	0.096722	0.64402	D	0.000001	T	0.58192	0.2105	L	0.58101	1.795	0.42799	D	0.993926	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.942	T	0.54214	-0.8327	10	0.37606	T	0.19	.	6.1413	0.20261	0.0:0.6184:0.125:0.2566	.	1093;1102	F8W9U9;Q5T5U3	.;RHG21_HUMAN	D	1103;890;1093;1103	ENSP00000379709:E1103D;ENSP00000365604:E890D;ENSP00000365592:E1093D;ENSP00000405018:E1103D	ENSP00000365604:E890D	E	-	3	2	ARHGAP21	24926407	0.971000	0.33674	0.979000	0.43373	0.991000	0.79684	0.113000	0.15499	0.478000	0.27488	0.655000	0.94253	GAG		0.398	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		16	116	1	0	6.49762e-13	1	8.19883e-13	16	116				
C5orf56	441108	broad.mit.edu	37	5	131796479	131796479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131796479G>A	ENST00000337752.2	+	4	445	c.314G>A	c.(313-315)tGc>tAc	p.C105Y	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	105										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						tggcagcaatgcagcagtgaa	0.418																																						ENST00000337752.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(313-315)tGc>tAc		chromosome 5 open reading frame 56							46.0	41.0	43.0					5																	131796479		2203	4300	6503	SO:0001583	missense	441108							g.chr5:131796479G>A	BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.314G>A	5.37:g.131796479G>A	ENSP00000338228:p.Cys105Tyr					C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron	p.C105Y			Q8N8D9	CE056_HUMAN			4	445	+			105					A1L3V9|A6NKA0	Missense_Mutation	SNP	ENST00000337752.2	37	c.314G>A		.	.	.	.	.	.	.	.	.	.	G	7.071	0.568387	0.13560	.	.	ENSG00000197536	ENST00000337752	.	.	.	3.05	-2.34	0.06704	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31081	-0.9956	7	0.87932	D	0	.	0.3863	0.00403	0.181:0.2459:0.2067:0.3663	.	105	Q8N8D9	CE056_HUMAN	Y	105	.	ENSP00000338228:C105Y	C	+	2	0	C5orf56	131824378	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.206000	0.17375	-0.485000	0.06754	-1.085000	0.02201	TGC		0.418	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000132329.1	NM_001013717		7	5	0	0	0	1	0	7	5				
ANKRD7	56311	broad.mit.edu	37	7	117874815	117874815	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117874815G>T	ENST00000265224.4	+	3	510	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	ANKRD7_ENST00000433239.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000417525.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000357099.4_Missense_Mutation_p.D139Y	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	119					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TGCAGACCCAGATCTGAGGGA	0.368																																						ENST00000357099.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(415-417)Gat>Tat		ankyrin repeat domain 7							225.0	208.0	213.0					7																	117874815		1867	4106	5973	SO:0001583	missense	56311				male gonad development			g.chr7:117874815G>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.355G>T	7.37:g.117874815G>T	ENSP00000265224:p.Asp119Tyr					ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000265224.4_Missense_Mutation_p.D119Y|ANKRD7_ENST00000417525.1_Missense_Mutation_p.D66Y	p.D139Y			Q92527	ANKR7_HUMAN			4	588	+			119					B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.415G>T	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615361	0.46631	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.55052	1.39;1.39;0.54;0.54	4.9	1.16	0.20824	Ankyrin repeat-containing domain (4);	0.119123	0.36703	N	0.002457	T	0.60248	0.2254	M	0.64997	1.995	0.27052	N	0.963761	P	0.51791	0.948	P	0.57776	0.827	T	0.55451	-0.8139	10	0.87932	D	0	-7.9838	8.7845	0.34811	0.6921:0.0:0.3079:0.0	.	119	Q92527	ANKR7_HUMAN	Y	139;119;66;66	ENSP00000349612:D139Y;ENSP00000265224:D119Y;ENSP00000395595:D66Y;ENSP00000388473:D66Y	ENSP00000265224:D119Y	D	+	1	0	ANKRD7	117662051	0.959000	0.32827	0.003000	0.11579	0.001000	0.01503	2.263000	0.43293	0.030000	0.15379	-0.238000	0.12139	GAT		0.368	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		38	147	1	0	1.30998e-17	1	1.70068e-17	38	147				
USF1	7391	broad.mit.edu	37	1	161011486	161011486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161011486G>A	ENST00000368021.3	-	6	631	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000466967.1_5'Flank|TSTD1_ENST00000368023.3_5'Flank|USF1_ENST00000368020.1_Nonsense_Mutation_p.Q143*|TSTD1_ENST00000423014.2_5'Flank|USF1_ENST00000435396.1_Nonsense_Mutation_p.Q84*|TSTD1_ENST00000368024.1_5'Flank|F11R_ENST00000289779.3_5'Flank|USF1_ENST00000368019.1_Intron	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	143					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTGAGCCCTGGGTAGTAACA	0.587											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368021.3																			0				central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(427-429)Cag>Tag		upstream transcription factor 1							73.0	70.0	71.0					1																	161011486		2203	4300	6503	SO:0001587	stop_gained	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161011486G>A	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.427C>T	1.37:g.161011486G>A	ENSP00000357000:p.Gln143*		OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1813	USF1_ENST00000368019.1_Intron|USF1_ENST00000435396.1_Nonsense_Mutation_p.Q84*|USF1_ENST00000368020.1_Nonsense_Mutation_p.Q143*	p.Q143*	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		6	631	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		143					B2RBZ4|Q5SY46|Q7Z5Y1	Nonsense_Mutation	SNP	ENST00000368021.3	37	c.427C>T	CCDS1214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.922172|6.922172	0.97936|0.97936	.|.	.|.	ENSG00000158773|ENSG00000158773	ENST00000528768|ENST00000368020;ENST00000368021;ENST00000435396;ENST00000534633	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.180931	.|0.39210	.|N	.|0.001436	T|.	0.49150|.	0.1540|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43015|.	-0.9417|.	3|.	.|0.20519	.|T	.|0.43	-10.9554|-10.9554	15.8856|15.8856	0.79244|0.79244	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	9|143;143;84;84	.|.	.|ENSP00000356999:Q143X	P|Q	-|-	2|1	0|0	USF1|USF1	159278110|159278110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.280000|7.280000	0.78610|0.78610	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.587	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		16	49	0	0	0	1	0	16	49				
SLC29A4	222962	broad.mit.edu	37	7	5338707	5338707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5338707G>A	ENST00000396872.3	+	8	1132	c.971G>A	c.(970-972)cGc>cAc	p.R324H	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R324H|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R310H			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	324					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCCTACATGCGCTTTGATGTG	0.711																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(970-972)cGc>cAc		solute carrier family 29 (equilibrative nucleoside transporter), member 4							12.0	17.0	16.0					7																	5338707		2182	4294	6476	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5338707G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.971G>A	7.37:g.5338707G>A	ENSP00000380081:p.Arg324His					SLC29A4_ENST00000297195.4_Missense_Mutation_p.R324H|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R310H	p.R324H	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	8	1132	+		Ovarian(82;0.0175)	324					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.971G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437780	0.62955	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.63580	0.18;0.18;-0.05	4.37	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.65975	2.015	0.49483	D	0.999796	D;D	0.89917	1.0;0.997	D;P	0.74023	0.982;0.873	T	0.76113	-0.3078	10	0.39692	T	0.17	-5.1045	15.0617	0.71961	0.0:0.0:1.0:0.0	.	310;324	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	H	324;324;310	ENSP00000380081:R324H;ENSP00000297195:R324H;ENSP00000385845:R310H	ENSP00000297195:R324H	R	+	2	0	SLC29A4	5305233	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	8.192000	0.89718	1.983000	0.57843	0.431000	0.28591	CGC		0.711	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		18	8	0	0	0	1	0	18	8				
KIF19	124602	broad.mit.edu	37	17	72349048	72349048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72349048C>T	ENST00000389916.4	+	15	2207	c.2069C>T	c.(2068-2070)gCc>gTc	p.A690V	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	690					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCTCTGATGCCCAGCACCTG	0.627																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2068-2070)gCc>gTc		kinesin family member 19							86.0	93.0	91.0					17																	72349048		2023	4185	6208	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72349048C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2069C>T	17.37:g.72349048C>T	ENSP00000374566:p.Ala690Val						p.A690V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			15	2207	+			690					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2069C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	6.208	0.406618	0.11754	.	.	ENSG00000196169	ENST00000389916	T	0.71103	-0.54	4.55	0.023	0.14135	.	.	.	.	.	T	0.46737	0.1408	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21827	-1.0234	9	0.19590	T	0.45	.	3.9554	0.09387	0.1571:0.461:0.0:0.3819	.	690	Q2TAC6	KIF19_HUMAN	V	690	ENSP00000374566:A690V	ENSP00000374566:A690V	A	+	2	0	KIF19	69860643	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.078000	0.11375	-0.022000	0.13986	-0.380000	0.06706	GCC		0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		25	36	0	0	0	1	0	25	36				
HELLS	3070	broad.mit.edu	37	10	96333731	96333731	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96333731C>A	ENST00000348459.5	+	8	597	c.492C>A	c.(490-492)tcC>tcA	p.S164S	HELLS_ENST00000394045.1_Silent_p.S164S|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Silent_p.S164S|HELLS_ENST00000394044.1_Silent_p.S164S|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAAACTCCTCCTCTACTAATC	0.313																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(490-492)tcC>tcA		helicase, lymphoid-specific							51.0	58.0	55.0					10																	96333731		2203	4300	6503	SO:0001819	synonymous_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96333731C>A	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.492C>A	10.37:g.96333731C>A						HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Silent_p.S164S|HELLS_ENST00000371332.4_Silent_p.S164S|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Silent_p.S164S	p.S164S	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	8	597	+		Colorectal(252;0.0429)	164						Silent	SNP	ENST00000348459.5	37	c.492C>A	CCDS7434.1																																																																																				0.313	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		4	70	1	0	0.00909568	1	0.00947522	4	70				
SHOX2	6474	broad.mit.edu	37	3	157815991	157815991	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157815991T>C	ENST00000425436.3	-	5	846	c.821A>G	c.(820-822)tAc>tGc	p.Y274C	SHOX2_ENST00000483851.2_Missense_Mutation_p.Y262C|SHOX2_ENST00000389589.4_Missense_Mutation_p.Y298C|SHOX2_ENST00000490689.2_Missense_Mutation_p.Y133C|SHOX2_ENST00000441443.2_Missense_Mutation_p.Y133C	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	274					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAACATCATGTAGGGCGCGTG	0.706																																						ENST00000490689.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20						c.(397-399)tAc>tGc		short stature homeobox 2							72.0	78.0	76.0					3																	157815991		2203	4298	6501	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157815991T>C	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.821A>G	3.37:g.157815991T>C	ENSP00000398704:p.Tyr274Cys					SHOX2_ENST00000425436.3_Missense_Mutation_p.Y274C|SHOX2_ENST00000441443.2_Missense_Mutation_p.Y133C|SHOX2_ENST00000389589.4_Missense_Mutation_p.Y298C|SHOX2_ENST00000483851.2_Missense_Mutation_p.Y262C	p.Y133C			O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	1931	-			274					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.398A>G	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.335973|4.335973	0.81801|0.81801	.|.	.|.	ENSG00000168779|ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000555977|ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851	.|D;D;D;D;D	.|0.93859	.|-2.99;-3.3;-3.1;-3.3;-3.2	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.94321|0.94321	0.8175|0.8175	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.994	D|D	0.93910|0.93910	0.7196|0.7196	5|10	.|0.40728	.|T	.|0.16	.|.	14.1782|14.1782	0.65557|0.65557	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|262;298;274	.|O60902-2;O60902-3;O60902	.|.;.;SHOX2_HUMAN	A|C	165|298;133;274;133;133;262	.|ENSP00000398704:Y298C;ENSP00000451888:Y133C;ENSP00000374240:Y274C;ENSP00000397099:Y133C;ENSP00000419362:Y262C	.|ENSP00000327294:Y133C	T|Y	-|-	1|2	0|0	SHOX2|SHOX2;AC112502.1	159298685|159298685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.400000|7.400000	0.79949|0.79949	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	ACA|TAC		0.706	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			5	99	0	0	0	1	0	5	99				
MTDH	92140	broad.mit.edu	37	8	98735147	98735147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98735147C>A	ENST00000336273.3	+	11	1890	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	MTDH_ENST00000519934.1_Missense_Mutation_p.S465Y	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	521					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.S521F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCGAGCCATCTGTAATCTTA	0.353																																						ENST00000336273.3																			1	Substitution - Missense(1)	p.S521F(1)	skin(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1561-1563)tCt>tAt		metadherin							113.0	112.0	112.0					8																	98735147		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98735147C>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1562C>A	8.37:g.98735147C>A	ENSP00000338235:p.Ser521Tyr					MTDH_ENST00000519934.1_Missense_Mutation_p.S465Y	p.S521Y	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		11	1890	+	Breast(36;2.56e-06)		521					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1562C>A	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411210	0.83340	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.52526	0.66;0.66	6.17	6.17	0.99709	.	0.266833	0.39341	N	0.001395	T	0.66944	0.2841	L	0.53249	1.67	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.65894	-0.6057	10	0.87932	D	0	-6.2238	19.0599	0.93085	0.0:1.0:0.0:0.0	.	521	Q86UE4	LYRIC_HUMAN	Y	521;465;144	ENSP00000338235:S521Y;ENSP00000428168:S465Y	ENSP00000338235:S521Y	S	+	2	0	MTDH	98804323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.346000	0.65992	2.941000	0.99782	0.655000	0.94253	TCT		0.353	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			11	97	1	0	0.00136819	1	0.00146042	11	97				
PHKA2	5256	broad.mit.edu	37	X	18966863	18966863	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18966863G>T	ENST00000379942.4	-	5	1201	c.536C>A	c.(535-537)gCt>gAt	p.A179D		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	179					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATACTTACAGCGACTTTATA	0.398																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.e5+1		phosphorylase kinase, alpha 2 (liver)							197.0	204.0	202.0					X																	18966863		2203	4300	6503	SO:0001630	splice_region_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18966863G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.537+1C>A	X.37:g.18966863G>T							p.A179_splice	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			5	1201	-	Hepatocellular(33;0.183)		179					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Splice_Site	SNP	ENST00000379942.4	37	c.537_splice	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559444	0.86335	.	.	ENSG00000044446	ENST00000379942	D	0.89939	-2.59	5.92	5.92	0.95590	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95326	0.8483	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.95648	0.8704	10	0.87932	D	0	-15.3495	19.2293	0.93831	0.0:0.0:1.0:0.0	.	179	P46019	KPB2_HUMAN	D	179	ENSP00000369274:A179D	ENSP00000369274:A179D	A	-	2	0	PHKA2	18876784	1.000000	0.71417	0.987000	0.45799	0.606000	0.37113	9.810000	0.99221	2.492000	0.84095	0.600000	0.82982	GCT		0.398	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	Missense_Mutation	22	323	1	0	4.87955e-14	1	6.21198e-14	22	323				
PCYOX1L	78991	broad.mit.edu	37	5	148747676	148747676	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148747676T>G	ENST00000274569.4	+	6	1006	c.944T>G	c.(943-945)tTt>tGt	p.F315C	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.F225C	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	315					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTTAACCTTTGCAGGCTTC	0.567											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(673-675)tTt>tGt		prenylcysteine oxidase 1 like							154.0	150.0	151.0					5																	148747676		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747676T>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.944T>G	5.37:g.148747676T>G	ENSP00000274569:p.Phe315Cys		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.F315C	p.F225C			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1253	+			315					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.674T>G	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259748	0.59321	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.17854	2.25;2.25	5.53	5.53	0.82687	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.98;0.966	D;P;P	0.91635	0.999;0.903;0.756	T	0.31364	-0.9946	10	0.48119	T	0.1	-17.3285	15.6673	0.77238	0.0:0.0:0.0:1.0	.	197;225;315	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	C	315;225	ENSP00000274569:F315C;ENSP00000428512:F225C	ENSP00000274569:F315C	F	+	2	0	PCYOX1L	148727869	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	8.013000	0.88655	2.094000	0.63399	0.459000	0.35465	TTT		0.567	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		6	132	0	0	0	1	0	6	132				
SMAP2	64744	broad.mit.edu	37	1	40881994	40881994	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40881994G>A	ENST00000539317.1	+	8	781	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	276	Interaction with clathrin heavy chains. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T276T(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GATCCCAGACGCCTCAAATGC	0.458																																						ENST00000539317.1																			1	Substitution - coding silent(1)	p.T276T(1)	large_intestine(1)	central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(586-588)acG>acA		small ArfGAP2							114.0	111.0	112.0					1																	40881994		2203	4300	6503	SO:0001819	synonymous_variant	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40881994G>A	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.588G>A	1.37:g.40881994G>A							p.T196T	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		8	781	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	276			Interaction with clathrin heavy chains (By similarity).		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	c.588G>A	CCDS55593.1																																																																																				0.458	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		36	65	0	0	0	1	0	36	65				
DUSP22	56940	broad.mit.edu	37	6	335150	335150	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:335150C>T	ENST00000344450.5	+	4	618	c.175C>T	c.(175-177)Cca>Tca	p.P59S	DUSP22_ENST00000419235.2_Missense_Mutation_p.P59S|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000603453.1_5'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	59					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCGGATTCACCATCTCAAAA	0.323																																						ENST00000419235.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(175-177)Cca>Tca		dual specificity phosphatase 22							73.0	77.0	76.0					6																	335150		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:335150C>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.175C>T	6.37:g.335150C>T	ENSP00000345281:p.Pro59Ser					DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.P59S|DUSP22_ENST00000603453.1_5'UTR	p.P59S			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	253	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	59					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.175C>T	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636760	0.29068	.	.	ENSG00000112679	ENST00000344450	D	0.85088	-1.94	5.93	5.06	0.68205	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.146153	0.48286	D	0.000198	T	0.64011	0.2560	L	0.43701	1.375	0.53688	D	0.999976	B;P;B	0.37525	0.22;0.598;0.017	B;B;B	0.29077	0.054;0.098;0.007	T	0.65961	-0.6041	10	0.15952	T	0.53	.	12.5405	0.56167	0.0:0.9218:0.0:0.0782	.	59;16;59	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	S	59	ENSP00000345281:P59S	ENSP00000345281:P59S	P	+	1	0	DUSP22	280150	1.000000	0.71417	0.947000	0.38551	0.931000	0.56810	4.307000	0.59123	1.521000	0.48983	0.591000	0.81541	CCA		0.323	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		7	45	0	0	0	1	0	7	45				
CYFIP2	26999	broad.mit.edu	37	5	156757835	156757835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156757835C>T	ENST00000521420.1	+	19	2255	c.2164C>T	c.(2164-2166)Ctg>Ttg	p.L722L	CYFIP2_ENST00000377576.3_Silent_p.L748L|CYFIP2_ENST00000522463.1_Silent_p.L552L|CYFIP2_ENST00000541131.1_Silent_p.L673L|CYFIP2_ENST00000435847.2_Silent_p.L447L|CYFIP2_ENST00000347377.6_Silent_p.L748L|CYFIP2_ENST00000318218.6_Silent_p.L773L|CYFIP2_ENST00000442283.2_Silent_p.L33L					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATGAAACACTGCTGAAGCA	0.483																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2242-2244)Ctg>Ttg		cytoplasmic FMR1 interacting protein 2							129.0	119.0	122.0					5																	156757835		2065	4221	6286	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156757835C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2164C>T	5.37:g.156757835C>T						CYFIP2_ENST00000541131.1_Silent_p.L673L|CYFIP2_ENST00000522463.1_Silent_p.L552L|CYFIP2_ENST00000442283.2_Silent_p.L33L|CYFIP2_ENST00000435847.2_Silent_p.L447L|CYFIP2_ENST00000521420.1_Silent_p.L722L|CYFIP2_ENST00000377576.3_Silent_p.L748L|CYFIP2_ENST00000318218.6_Silent_p.L773L	p.L748L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		20	2673	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	773						Silent	SNP	ENST00000521420.1	37	c.2242C>T																																																																																					0.483	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		3	35	0	0	0	1	0	3	35				
LARS2	23395	broad.mit.edu	37	3	45441826	45441826	+	Silent	SNP	C	C	T	rs140105027	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45441826C>T	ENST00000415258.1	+	3	465	c.324C>T	c.(322-324)agC>agT	p.S108S	LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Silent_p.S108S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	108					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACACCATCAGCGACACCATAG	0.507																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(322-324)agC>agT		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)	C		4,4402	8.1+/-20.4	0,4,2199	147.0	124.0	131.0		324	-2.6	1.0	3	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	LARS2	NM_015340.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		108/904	45441826	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45441826C>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.324C>T	3.37:g.45441826C>T						LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Silent_p.S108S	p.S108S			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	3	465	+			108						Silent	SNP	ENST00000415258.1	37	c.324C>T	CCDS2728.1																																																																																				0.507	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		37	42	0	0	0	1	0	37	42				
CRIPAK	285464	broad.mit.edu	37	4	1388596	1388596	+	Silent	SNP	C	C	T	rs151313714|rs558358960	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1388596C>T	ENST00000324803.4	+	1	3257	c.297C>T	c.(295-297)caC>caT	p.H99H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGT	0.647													N|||	5	0.000998403	0.0	0.0014	5008	,	,		17218	0.0		0.002	False		,,,				2504	0.002					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(295-297)caC>caT		cysteine-rich PAK1 inhibitor		C		4,4402	9.9+/-24.2	0,4,2199	226.0	179.0	195.0		297		0.0	4	dbSNP_134	195	27,8573	19.8+/-62.0	0,27,4273	no	coding-synonymous	CRIPAK	NM_175918.3		0,31,6472	TT,TC,CC		0.314,0.0908,0.2384		99/447	1388596	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388596C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.297C>T	4.37:g.1388596C>T							p.H99H	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3257	+			99					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.297C>T	CCDS3349.1																																																																																				0.647	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		26	100	0	0	0	1	0	26	100				
CPN1	1369	broad.mit.edu	37	10	101816817	101816817	+	Missense_Mutation	SNP	G	G	A	rs201387563		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101816817G>A	ENST00000370418.3	-	6	1215	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AGCCACTCCCGCTGTAACTCC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		18604	0.001		0.0	False		,,,				2504	0.0					ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(964-966)Cgg>Tgg		carboxypeptidase N, polypeptide 1							188.0	193.0	192.0					10																	101816817		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816817G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.964C>T	10.37:g.101816817G>A	ENSP00000359446:p.Arg322Trp						p.R322W	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1215	-		Colorectal(252;0.234)	322			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.964C>T	CCDS7486.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.18	3.050174	0.55218	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.11495	2.77;2.77	4.46	0.953	0.19590	Peptidase M14, carboxypeptidase A (2);	0.286046	0.36268	N	0.002695	T	0.23727	0.0574	M	0.80982	2.52	0.21416	N	0.999697	D	0.89917	1.0	P	0.58820	0.846	T	0.03403	-1.1040	10	0.72032	D	0.01	-17.9606	6.267	0.20932	0.1515:0.0:0.3309:0.5176	.	322	P15169	CBPN_HUMAN	W	322;119	ENSP00000359446:R322W;ENSP00000410895:R119W	ENSP00000359446:R322W	R	-	1	2	CPN1	101806807	0.032000	0.19561	0.113000	0.21522	0.947000	0.59692	0.681000	0.25320	0.397000	0.25310	0.455000	0.32223	CGG		0.453	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		17	215	0	0	0	1	0	17	215				
RGS3	5998	broad.mit.edu	37	9	116267769	116267769	+	Silent	SNP	C	C	T	rs369412765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116267769C>T	ENST00000374140.2	+	12	1154	c.945C>T	c.(943-945)tgC>tgT	p.C315C	RGS3_ENST00000343817.5_Silent_p.C34C|RGS3_ENST00000317613.6_Silent_p.C203C|RGS3_ENST00000350696.5_Silent_p.C315C|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000394646.3_Silent_p.C34C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	315	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCATCTGCTGCGACTCTCCAG	0.577																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(943-945)tgC>tgT		regulator of G-protein signaling 3		C	,,	1,4405	2.1+/-5.4	0,1,2202	167.0	118.0	135.0		609,102,945	-11.1	0.4	9		135	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RGS3	NM_017790.3,NM_130795.2,NM_144488.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	203/603,34/918,315/1199	116267769	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116267769C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.945C>T	9.37:g.116267769C>T						RGS3_ENST00000350696.5_Silent_p.C315C|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000343817.5_Silent_p.C34C|RGS3_ENST00000317613.6_Silent_p.C203C|RGS3_ENST00000394646.3_Silent_p.C34C	p.C315C	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			12	1154	+			315			PDZ.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.945C>T	CCDS43869.1																																																																																				0.577	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		9	10	0	0	0	1	0	9	10				
GLG1	2734	broad.mit.edu	37	16	74490600	74490600	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74490600C>T	ENST00000422840.2	-	25	3318	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000447066.2_Missense_Mutation_p.E1096K|GLG1_ENST00000205061.5_Missense_Mutation_p.E1107K	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1107					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E1107K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTTTTGCACTCGGGCTGTAAC	0.418																																						ENST00000422840.2																			1	Substitution - Missense(1)	p.E1107K(1)	large_intestine(1)	breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(3319-3321)Gag>Aag		golgi glycoprotein 1							140.0	135.0	137.0					16																	74490600		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74490600C>T		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3319G>A	16.37:g.74490600C>T	ENSP00000405984:p.Glu1107Lys					GLG1_ENST00000205061.5_Missense_Mutation_p.E1107K|GLG1_ENST00000447066.2_Missense_Mutation_p.E1096K	p.E1107K	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			25	3318	-			1107					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.3319G>A	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353564	0.82243	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.43152	1.355	0.80722	D	1	D;P;P;P	0.61080	0.989;0.787;0.919;0.573	P;B;B;B	0.49799	0.622;0.098;0.2;0.072	T	0.58239	-0.7671	9	0.37606	T	0.19	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	237;1107;1107;1096	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	K	1107;1096;1107	.	ENSP00000205061:E1107K	E	-	1	0	GLG1	73048101	1.000000	0.71417	0.961000	0.40146	0.744000	0.42396	7.487000	0.81328	2.708000	0.92522	0.650000	0.86243	GAG		0.418	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		52	66	0	0	0	1	0	52	66				
IKZF3	22806	broad.mit.edu	37	17	37933942	37933942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37933942A>G	ENST00000346872.3	-	7	849	c.788T>C	c.(787-789)gTg>gCg	p.V263A	IKZF3_ENST00000439016.2_Missense_Mutation_p.V168A|IKZF3_ENST00000394189.2_Missense_Mutation_p.V81A|IKZF3_ENST00000439167.2_Missense_Mutation_p.V190A|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.V229A|IKZF3_ENST00000351680.3_Missense_Mutation_p.V224A|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.V176A|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.V120A|IKZF3_ENST00000583368.1_Missense_Mutation_p.V16A|IKZF3_ENST00000467757.1_Missense_Mutation_p.V207A	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	263					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGTTTTGCCACATTGCTTGC	0.388																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(787-789)gTg>gCg		IKAROS family zinc finger 3 (Aiolos)							223.0	232.0	229.0					17																	37933942		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37933942A>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.788T>C	17.37:g.37933942A>G	ENSP00000344544:p.Val263Ala					IKZF3_ENST00000467757.1_Missense_Mutation_p.V207A|IKZF3_ENST00000439167.2_Missense_Mutation_p.V190A|IKZF3_ENST00000394189.2_Missense_Mutation_p.V81A|IKZF3_ENST00000377944.3_Missense_Mutation_p.V120A|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.V168A|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000583368.1_Missense_Mutation_p.V16A|IKZF3_ENST00000377958.2_Missense_Mutation_p.V176A|IKZF3_ENST00000351680.3_Missense_Mutation_p.V224A|IKZF3_ENST00000535189.1_Missense_Mutation_p.V229A	p.V263A	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	849	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		263					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.788T>C	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.973498|3.973498	0.74246|0.74246	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T|.	0.10960|.	3.08;2.84;2.82;3.11;3.17;4.04|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.50627|.	D|.	0.000116|.	T|T	0.73590|0.73590	0.3606|0.3606	M|M	0.72118|0.72118	2.19|2.19	0.50313|0.50313	D|D	0.999868|0.999868	P;D;B;P;D;D;D;B;D|.	0.71674|.	0.954;0.998;0.015;0.904;0.998;0.982;0.979;0.417;0.984|.	P;D;B;P;D;D;P;B;P|.	0.77557|.	0.722;0.99;0.017;0.769;0.99;0.916;0.677;0.167;0.771|.	T|T	0.73892|0.73892	-0.3839|-0.3839	10|5	0.33940|.	T|.	0.23|.	-19.0798|-19.0798	15.381|15.381	0.74654|0.74654	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	176;81;120;229;168;207;224;190;263|.	Q9UKT9-9;Q9UKT9-11;Q9UKT9-10;Q9UKT9-7;Q9UKT9-5;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	A|R	263;168;81;120;176;229;224;207|178;217	ENSP00000377741:V81A;ENSP00000367179:V120A;ENSP00000367194:V176A;ENSP00000438972:V229A;ENSP00000345622:V224A;ENSP00000420463:V207A|.	ENSP00000344544:V168A|.	V|W	-|-	2|1	0|0	IKZF3|IKZF3	35187468|35187468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.363000|8.363000	0.90103|0.90103	2.179000|2.179000	0.69175|0.69175	0.528000|0.528000	0.53228|0.53228	GTG|TGG		0.388	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		3	69	0	0	0	1	0	3	69				
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30665636G>T	ENST00000542965.2	+	6	1090	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	PRR14_ENST00000300835.4_Missense_Mutation_p.D212Y			Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(634-636)Gac>Tac		proline rich 14							119.0	125.0	123.0					16																	30665636		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30665636G>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.634G>T	16.37:g.30665636G>T	ENSP00000441641:p.Asp212Tyr					PRR14_ENST00000300835.4_Missense_Mutation_p.D212Y	p.D212Y			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		6	1090	+			212			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.634G>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339859	0.24339	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.61040	0.14;0.14	5.39	0.974	0.19715	.	0.470643	0.19880	N	0.103986	T	0.48370	0.1496	L	0.54323	1.7	0.09310	N	1	B	0.33171	0.4	B	0.36885	0.235	T	0.45440	-0.9261	10	0.66056	D	0.02	-0.6829	4.5099	0.11906	0.2826:0.1603:0.5571:0.0	.	212	Q9BWN1	PRR14_HUMAN	Y	185;212;212	ENSP00000300835:D212Y;ENSP00000441641:D212Y	ENSP00000287463:D185Y	D	+	1	0	PRR14	30573137	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.482000	0.22276	0.061000	0.16311	0.650000	0.86243	GAC		0.577	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		64	116	1	0	1.20869e-33	1	1.624e-33	64	116				
GTPBP2	54676	broad.mit.edu	37	6	43590374	43590374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43590374C>T	ENST00000307126.5	-	10	1462	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.R400H	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTCACCTTGCGAAGCAGTGC	0.572																																					GBM(116;405 1620 28302 32150 44768)	ENST00000307126.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1462-1464)cGc>cAc		GTP binding protein 2							147.0	141.0	143.0					6																	43590374		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43590374C>T	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1463G>A	6.37:g.43590374C>T	ENSP00000303997:p.Arg488His					GTPBP2_ENST00000307114.7_Missense_Mutation_p.R400H|GTPBP2_ENST00000476510.1_5'UTR	p.R488H	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		10	1462	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		488						Missense_Mutation	SNP	ENST00000307126.5	37	c.1463G>A	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384521	0.95967	.	.	ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114;ENST00000434548	T;T	0.38077	1.16;1.2	5.64	5.64	0.86602	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.61826	-0.6983	10	0.72032	D	0.01	-15.6083	19.7025	0.96060	0.0:1.0:0.0:0.0	.	480;488	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	H	130;488;400;84	ENSP00000303997:R488H;ENSP00000304893:R400H	ENSP00000304893:R400H	R	-	2	0	GTPBP2	43698352	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	7.313000	0.78978	2.674000	0.91012	0.650000	0.86243	CGC		0.572	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			37	80	0	0	0	1	0	37	80				
DSE	29940	broad.mit.edu	37	6	116720538	116720538	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116720538G>T	ENST00000331677.3	+	3	569	c.125G>T	c.(124-126)aGc>aTc	p.S42I	DSE_ENST00000452085.3_Missense_Mutation_p.S42I|DSE_ENST00000359564.2_Missense_Mutation_p.S42I|DSE_ENST00000537543.1_Missense_Mutation_p.S61I|DSE_ENST00000540275.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	42					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AACTACGACAGCCATCCCATG	0.547																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(124-126)aGc>aTc		dermatan sulfate epimerase							79.0	67.0	71.0					6																	116720538		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720538G>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.125G>T	6.37:g.116720538G>T	ENSP00000332151:p.Ser42Ile					DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.S61I|DSE_ENST00000452085.3_Missense_Mutation_p.S42I|DSE_ENST00000359564.2_Missense_Mutation_p.S42I	p.S42I			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	569	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	42					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.125G>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789910	0.70337	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.46	3.52	0.40303	.	0.095151	0.85682	D	0.000000	T	0.11024	0.0269	L	0.29908	0.895	0.41904	D	0.99043	P;P	0.49447	0.924;0.924	P;P	0.47981	0.563;0.563	T	0.02654	-1.1128	10	0.52906	T	0.07	-6.6967	11.8193	0.52228	0.1501:0.0:0.8499:0.0	.	61;42	B7Z765;Q9UL01	.;DSE_HUMAN	I	42;42;61;42;42	ENSP00000397597:S42I;ENSP00000404049:S42I;ENSP00000441152:S61I;ENSP00000332151:S42I;ENSP00000352567:S42I	ENSP00000332151:S42I	S	+	2	0	DSE	116827231	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.895000	0.56258	0.750000	0.32877	0.655000	0.94253	AGC		0.547	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		4	36	1	0	0.150653	1	0.152692	4	36				
KAT6B	23522	broad.mit.edu	37	10	76729777	76729777	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76729777G>T	ENST00000287239.4	+	6	1335		c.e6-1		KAT6B_ENST00000372725.1_Splice_Site|KAT6B_ENST00000372714.1_Splice_Site|KAT6B_ENST00000372711.1_Splice_Site|KAT6B_ENST00000372724.1_Splice_Site	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTATATTACAGGATAATATGC	0.328																																						ENST00000287239.4																			0											c.e6-1		K(lysine) acetyltransferase 6B							55.0	53.0	54.0					10																	76729777		2203	4300	6503	SO:0001630	splice_region_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76729777G>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.847-1G>T	10.37:g.76729777G>T						KAT6B_ENST00000372724.1_Splice_Site|KAT6B_ENST00000372711.1_Splice_Site|KAT6B_ENST00000372725.1_Splice_Site|KAT6B_ENST00000372714.1_Splice_Site		NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			6	1335	+								O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Splice_Site	SNP	ENST00000287239.4	37		CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993300	0.93167	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT6B	76399783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.878000	0.98634	0.650000	0.86243	.		0.328	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	Intron	11	20	1	0	3.07112e-06	1	3.52574e-06	11	20				
NNT	23530	broad.mit.edu	37	5	43655960	43655960	+	Missense_Mutation	SNP	G	G	A	rs139987446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43655960G>A	ENST00000264663.5	+	15	2299	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	NNT_ENST00000344920.4_Missense_Mutation_p.R693H|NNT_ENST00000512996.2_Missense_Mutation_p.R562H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	693					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATTGCCAAACGCATCCAGATT	0.348																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2077-2079)cGc>cAc		nicotinamide nucleotide transhydrogenase	NADH(DB00157)	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	106.0	109.0		2078,2078	5.7	1.0	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	NNT	NM_012343.3,NM_182977.2	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	693/1087,693/1087	43655960	2,13004	2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43655960G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2078G>A	5.37:g.43655960G>A	ENSP00000264663:p.Arg693His					NNT_ENST00000512996.2_Missense_Mutation_p.R562H|NNT_ENST00000344920.4_Missense_Mutation_p.R693H	p.R693H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			15	2299	+	Lung NSC(6;2.58e-06)		693					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2078G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440831	0.83993	2.27E-4	1.16E-4	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92397	-3.03;-3.03;-3.03	5.7	5.7	0.88788	.	0.088921	0.64402	D	0.000001	D	0.96753	0.8940	M	0.88310	2.945	0.58432	D	0.999995	D	0.76494	0.999	D	0.69654	0.965	D	0.97008	0.9734	10	0.87932	D	0	-11.1376	19.8361	0.96658	0.0:0.0:1.0:0.0	.	693	Q13423	NNTM_HUMAN	H	208;693;693;562	ENSP00000264663:R693H;ENSP00000343873:R693H;ENSP00000426343:R562H	ENSP00000264663:R693H	R	+	2	0	NNT	43691717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.428000	0.52792	2.692000	0.91855	0.655000	0.94253	CGC		0.348	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		15	30	0	0	0	1	0	15	30				
PCSK5	5125	broad.mit.edu	37	9	78808156	78808156	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78808156C>T	ENST00000545128.1	+	20	3164				PCSK5_ENST00000376752.4_Missense_Mutation_p.T877M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAAAAGCAACGGAAGAGTCC	0.473																																						ENST00000376752.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2629-2631)aCg>aTg		proprotein convertase subtilisin/kexin type 5							76.0	71.0	73.0					9																	78808156		2203	4300	6503	SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78808156C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2626+3494C>T	9.37:g.78808156C>T						PCSK5_ENST00000545128.1_Intron	p.T877M	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN			21	3107	+			877			PLAC.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2630C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626766	0.28978	.	.	ENSG00000099139	ENST00000376752	T	0.31247	1.5	5.79	4.84	0.62591	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.80722	D	1	P	0.47106	0.89	P	0.44772	0.46	T	0.02491	-1.1151	8	0.34782	T	0.22	.	15.6652	0.77225	0.1377:0.8623:0.0:0.0	.	877	Q92824-2	.	M	877	ENSP00000365943:T877M	ENSP00000365943:T877M	T	+	2	0	PCSK5	77997976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.760000	0.62235	2.734000	0.93682	0.655000	0.94253	ACG		0.473	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	22	0	0	0	1	0	10	22				
PCDHA3	56145	broad.mit.edu	37	5	140182354	140182354	+	Silent	SNP	C	C	T	rs267600384		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182354C>T	ENST00000522353.2	+	1	1572	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.D524D|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1570-1572)gaC>gaT									84.0	88.0	87.0					5																	140182354		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140182354C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1572C>T	5.37:g.140182354C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.D524D|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	p.D524D	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1572	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1572C>T	CCDS54915.1																																																																																				0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	115	0	0	0	1	0	5	115				
C2orf57	165100	broad.mit.edu	37	2	232457829	232457829	+	Missense_Mutation	SNP	C	C	T	rs201167903		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232457829C>T	ENST00000313965.2	+	1	255	c.167C>T	c.(166-168)aCg>aTg	p.T56M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	56										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TCCTTCAAGACGGCCACCCCC	0.542																																						ENST00000313965.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(166-168)aCg>aTg		chromosome 2 open reading frame 57		C	MET/THR	0,4406		0,0,2203	112.0	114.0	113.0		167	0.0	0.0	2		113	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C2orf57	NM_152614.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	56/396	232457829	2,13004	2203	4300	6503	SO:0001583	missense	165100							g.chr2:232457829C>T	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.167C>T	2.37:g.232457829C>T	ENSP00000315557:p.Thr56Met						p.T56M	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	255	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	56					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.167C>T	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	c	13.46	2.244759	0.39697	0.0	2.33E-4	ENSG00000177673	ENST00000313965	T	0.20200	2.09	4.31	-0.00151	0.14034	.	1.486400	0.05131	N	0.492497	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	P	0.47350	0.894	B	0.37239	0.244	T	0.20605	-1.0270	10	0.56958	D	0.05	.	5.9954	0.19491	0.4677:0.4395:0.0:0.0929	.	56	Q53QW1	CB057_HUMAN	M	56	ENSP00000315557:T56M	ENSP00000315557:T56M	T	+	2	0	C2orf57	232166073	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.654000	0.05354	-0.113000	0.11958	0.563000	0.77884	ACG		0.542	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		26	52	0	0	0	1	0	26	52				
C18orf8	29919	broad.mit.edu	37	18	21095831	21095831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21095831G>T	ENST00000269221.3	+	6	530	c.420G>T	c.(418-420)gaG>gaT	p.E140D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E92D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	140						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TATTACCAGAGAAACGGAGTC	0.478											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(418-420)gaG>gaT		chromosome 18 open reading frame 8							101.0	102.0	102.0					18																	21095831		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21095831G>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.420G>T	18.37:g.21095831G>T	ENSP00000269221:p.Glu140Asp		OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	745	C18orf8_ENST00000590868.1_Missense_Mutation_p.E92D	p.E140D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			6	530	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		140					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.420G>T	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877255	0.51801	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.10477	2.87	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.146870	0.64402	D	0.000011	T	0.10852	0.0265	L	0.31752	0.955	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.15809	-1.0424	10	0.28530	T	0.3	-9.7844	19.2325	0.93846	0.0:0.0:1.0:0.0	.	140;92	Q96DM3;F5H2W0	MIC1_HUMAN;.	D	140;92	ENSP00000269221:E140D	ENSP00000269221:E140D	E	+	3	2	C18orf8	19349829	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.397000	0.52572	2.626000	0.88956	0.644000	0.83932	GAG		0.478	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		26	63	1	0	9.57634e-11	1	1.18454e-10	26	63				
CACNA1D	776	broad.mit.edu	37	3	53756346	53756346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53756346G>A	ENST00000350061.5	+	12	2022	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R524H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R504H	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	504					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTAGCCGACGCTGGCGTCGC	0.458																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1570-1572)cGc>cAc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						136.0	116.0	123.0					3																	53756346		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53756346G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1511G>A	3.37:g.53756346G>A	ENSP00000288133:p.Arg504His					CACNA1D_ENST00000350061.5_Missense_Mutation_p.R504H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R504H	p.R524H	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1689	+			504					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1571G>A	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.18|10.18	1.279315|1.279315	0.23307|0.23307	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.93712	.|-3.27;-3.27;-3.27;-3.27	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.088465	.|0.44688	.|D	.|0.000421	D|D	0.89227|0.89227	0.6655|0.6655	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.27286	.|0.109;0.108;0.159;0.174	.|B;B;B;B	.|0.26969	.|0.034;0.023;0.043;0.075	D|D	0.84572|0.84572	0.0656|0.0656	5|10	.|0.14252	.|T	.|0.57	.|.	13.4415|13.4415	0.61117|0.61117	0.0713:0.0:0.9287:0.0|0.0713:0.0:0.9287:0.0	.|.	.|504;197;504;524	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	T|H	218|504;524;504;197	.|ENSP00000288133:R504H;ENSP00000288139:R524H;ENSP00000409174:R504H;ENSP00000418014:R197H	.|ENSP00000288139:R524H	A|R	+|+	1|2	0|0	CACNA1D|CACNA1D	53731386|53731386	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	4.773000|4.773000	0.62331|0.62331	2.774000|2.774000	0.95407|0.95407	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.458	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		17	30	0	0	0	1	0	17	30				
ARRB2	409	broad.mit.edu	37	17	4624310	4624310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4624310C>T	ENST00000269260.2	+	15	1439	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	ARRB2_ENST00000571206.1_Silent_p.D210D|ARRB2_ENST00000381488.6_Silent_p.D387D|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000574954.1_Silent_p.D210D|ARRB2_ENST00000572457.1_Silent_p.D210D|ARRB2_ENST00000346341.2_Silent_p.D399D|ARRB2_ENST00000412477.3_Silent_p.D423D	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	402	Interaction with AP2B1.|Interaction with TRAF6.				adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGAAGGATGACGACTATGATG	0.542																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(1204-1206)gaC>gaT		arrestin, beta 2							182.0	152.0	162.0					17																	4624310		2203	4300	6503	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4624310C>T		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.1206C>T	17.37:g.4624310C>T						ARRB2_ENST00000346341.2_Silent_p.D399D|ARRB2_ENST00000572457.1_Silent_p.D210D|ARRB2_ENST00000574954.1_Silent_p.D210D|ARRB2_ENST00000381488.6_Silent_p.D387D|ARRB2_ENST00000571206.1_Silent_p.D210D|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.D423D	p.D402D	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			15	1439	+			402			Interaction with AP2B1.|Interaction with TRAF6.		B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.1206C>T	CCDS11050.1																																																																																				0.542	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		29	62	0	0	0	1	0	29	62				
STYK1	55359	broad.mit.edu	37	12	10772820	10772820	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772820A>C	ENST00000075503.3	-	11	1712	c.1192T>G	c.(1192-1194)Ttg>Gtg	p.L398V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	398						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGTACCACCAACTCTGGTACT	0.532										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(1192-1194)Ttg>Gtg		serine/threonine/tyrosine kinase 1							192.0	182.0	186.0					12																	10772820		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772820A>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1192T>G	12.37:g.10772820A>C	ENSP00000075503:p.Leu398Val	HNSCC(73;0.22)					p.L398V	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			11	1712	-			398					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1192T>G	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935502	0.52866	.	.	ENSG00000060140	ENST00000075503	T	0.78003	-1.14	4.96	-2.01	0.07410	Protein kinase-like domain (1);	0.133396	0.33364	N	0.004996	T	0.75117	0.3806	M	0.65975	2.015	0.29111	N	0.880887	D	0.57257	0.979	P	0.49999	0.628	T	0.72110	-0.4389	10	0.20046	T	0.44	-7.8021	10.901	0.47051	0.3221:0.0:0.6779:0.0	.	398	Q6J9G0	STYK1_HUMAN	V	398	ENSP00000075503:L398V	ENSP00000075503:L398V	L	-	1	2	STYK1	10664087	0.661000	0.27430	0.984000	0.44739	0.978000	0.69477	-0.280000	0.08468	-0.305000	0.08831	0.460000	0.39030	TTG		0.532	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		64	130	0	0	0	1	0	64	130				
PPP6R2	9701	broad.mit.edu	37	22	50862008	50862008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50862008G>A	ENST00000216061.5	+	11	1460	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	PPP6R2_ENST00000395741.3_Missense_Mutation_p.E365K|PPP6R2_ENST00000359139.3_Missense_Mutation_p.E364K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E364K			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	364						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CATCAACCAGGAGCTCTGCCG	0.622																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1090-1092)Gag>Aag		protein phosphatase 6, regulatory subunit 2							97.0	76.0	83.0					22																	50862008		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50862008G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1090G>A	22.37:g.50862008G>A	ENSP00000216061:p.Glu364Lys					PPP6R2_ENST00000395744.3_Missense_Mutation_p.E364K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E365K|PPP6R2_ENST00000216061.5_Missense_Mutation_p.E364K	p.E364K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			10	1484	+			364					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1090G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.110181	0.94292	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.67	5.67	0.87782	.	0.102714	0.64402	D	0.000003	T	0.57198	0.2037	M	0.74881	2.28	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.998;0.998;0.989;0.998;0.989	D;D;D;D;D	0.74023	0.969;0.982;0.931;0.969;0.931	T	0.59611	-0.7422	10	0.87932	D	0	-33.5474	17.2603	0.87068	0.0:0.0:1.0:0.0	.	364;364;365;364;364	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	K	364;365;364;364	ENSP00000352051:E364K;ENSP00000379090:E365K;ENSP00000379093:E364K;ENSP00000216061:E364K	ENSP00000216061:E364K	E	+	1	0	PPP6R2	49208874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.577000	0.82486	2.685000	0.91497	0.591000	0.81541	GAG		0.622	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		18	28	0	0	0	1	0	18	28				
ZDHHC13	54503	broad.mit.edu	37	11	19173709	19173709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19173709G>T	ENST00000446113.2	+	7	710	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZDHHC13_ENST00000399351.3_Nonsense_Mutation_p.E67*|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	197					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGACAGGCCAGAACCAACTGG	0.348																																						ENST00000446113.2																			0				NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(589-591)Gaa>Taa		zinc finger, DHHC-type containing 13							63.0	59.0	60.0					11																	19173709		1826	4074	5900	SO:0001587	stop_gained	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19173709G>T	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.589G>T	11.37:g.19173709G>T	ENSP00000400113:p.Glu197*					ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Nonsense_Mutation_p.E67*	p.E197*	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN			7	710	+			197					Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Nonsense_Mutation	SNP	ENST00000446113.2	37	c.589G>T	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	G	38	7.074505	0.98044	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-7.6457	18.9329	0.92574	0.0:0.0:1.0:0.0	.	.	.	.	X	197;67	.	ENSP00000382288:E67X	E	+	1	0	ZDHHC13	19130285	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.624000	0.98398	2.582000	0.87167	0.591000	0.81541	GAA		0.348	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		24	44	1	0	1.1804e-14	1	1.50872e-14	24	44				
LETMD1	25875	broad.mit.edu	37	12	51447581	51447581	+	Silent	SNP	G	G	A	rs144819671		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51447581G>A	ENST00000262055.4	+	4	450	c.411G>A	c.(409-411)aaG>aaA	p.K137K	LETMD1_ENST00000550929.1_Silent_p.K81K|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000418425.2_Silent_p.K150K|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	137	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACGTCACCAAGTGTCTTTTCC	0.408																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(448-450)aaG>aaA		LETM1 domain containing 1		G	,	0,4406		0,0,2203	337.0	290.0	306.0		243,411	5.2	1.0	12	dbSNP_134	306	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LETMD1	NM_001024668.1,NM_015416.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	81/305,137/361	51447581	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51447581G>A	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.411G>A	12.37:g.51447581G>A						LETMD1_ENST00000550929.1_Silent_p.K81K|LETMD1_ENST00000262055.4_Silent_p.K137K|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron	p.K150K	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			4	469	+			137			LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Silent	SNP	ENST00000262055.4	37	c.450G>A	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442852	0.43326	0.0	1.16E-4	ENSG00000050426	ENST00000548209;ENST00000550814	T	0.50813	0.73	5.21	5.21	0.72293	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60924	-0.7166	6	0.72032	D	0.01	-11.7148	11.4927	0.50389	0.0831:0.0:0.9169:0.0	.	.	.	.	M	99;10	ENSP00000450275:V99M	ENSP00000448442:V99M	V	+	1	0	LETMD1	49733848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.250000	0.43178	2.890000	0.99128	0.650000	0.86243	GTG		0.408	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		18	226	0	0	0	1	0	18	226				
ZNF621	285268	broad.mit.edu	37	3	40574286	40574286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40574286C>A	ENST00000339296.5	+	5	1477	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.P342H|ZNF621_ENST00000431278.1_Missense_Mutation_p.P231H|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAATTGCACCCTGTGGAGAAG	0.507																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(1024-1026)cCt>cAt		zinc finger protein 621							123.0	97.0	105.0					3																	40574286		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40574286C>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.1025C>A	3.37:g.40574286C>A	ENSP00000340841:p.Pro342His					ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.P342H|ZNF621_ENST00000431278.1_Missense_Mutation_p.P231H	p.P342H	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	1477	+			342					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.1025C>A	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	8.447	0.852229	0.17106	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.05258	3.47;3.47;3.47	3.81	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.260251	0.20489	N	0.091337	T	0.04452	0.0122	N	0.14661	0.345	0.39460	D	0.967545	B;P	0.44986	0.015;0.847	B;P	0.45913	0.01;0.497	T	0.50659	-0.8802	10	0.87932	D	0	.	3.5726	0.07922	0.1719:0.5616:0.1672:0.0993	.	231;342	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	H	342;342;231	ENSP00000386051:P342H;ENSP00000340841:P342H;ENSP00000413236:P231H	ENSP00000340841:P342H	P	+	2	0	ZNF621	40549290	0.009000	0.17119	0.167000	0.22817	0.402000	0.30811	0.134000	0.15932	0.161000	0.19458	0.637000	0.83480	CCT		0.507	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		4	29	1	0	3.59834e-05	1	4.01776e-05	4	29				
SLC45A1	50651	broad.mit.edu	37	1	8390529	8390529	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8390529C>A	ENST00000471889.1	+	5	1361	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L326I|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L360I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	326					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGACAGCCTCCCGTCGCA	0.706																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(976-978)Ctc>Atc		solute carrier family 45, member 1							22.0	22.0	22.0					1																	8390529		2202	4299	6501	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390529C>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.976C>A	1.37:g.8390529C>A	ENSP00000418096:p.Leu326Ile					SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L360I|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L326I	p.L326I			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1361	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	326					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.976C>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	3.417	-0.119009	0.06838	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19105	2.19;2.17;2.19	4.34	1.14	0.20703	.	1.134180	0.06468	N	0.730717	T	0.14917	0.0360	L	0.36672	1.1	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.37709	-0.9694	10	0.16896	T	0.51	-13.3969	4.1675	0.10313	0.1485:0.4722:0.2898:0.0896	.	326	Q9Y2W3	S45A1_HUMAN	I	326;360;326	ENSP00000418096:L326I;ENSP00000366699:L360I;ENSP00000289877:L326I	ENSP00000289877:L326I	L	+	1	0	SLC45A1	8313116	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.123000	0.15708	0.014000	0.14944	0.561000	0.74099	CTC		0.706	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			5	8	1	0	0.00198382	1	0.00210581	5	8				
RGS12	6002	broad.mit.edu	37	4	3432328	3432328	+	Missense_Mutation	SNP	G	G	A	rs527254623		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3432328G>A	ENST00000344733.5	+	17	4664	c.3760G>A	c.(3760-3762)Gcc>Acc	p.A1254T	RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Missense_Mutation_p.A606T|RGS12_ENST00000382788.3_Missense_Mutation_p.A1254T|RGS12_ENST00000336727.3_Missense_Mutation_p.A1254T	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1254					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGGGAGAGCGCCTCCCAGCC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		13831	0.0		0.0	False		,,,				2504	0.001					ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3760-3762)Gcc>Acc		regulator of G-protein signaling 12							28.0	23.0	24.0					4																	3432328		2199	4296	6495	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432328G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3760G>A	4.37:g.3432328G>A	ENSP00000339381:p.Ala1254Thr					RGS12_ENST00000382788.3_Missense_Mutation_p.A1254T|RGS12_ENST00000344733.5_Missense_Mutation_p.A1254T|RGS12_ENST00000338806.4_Missense_Mutation_p.A606T|RGS12_ENST00000538395.1_3'UTR	p.A1254T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4664	+			1254					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3760G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416783	0.42918	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.34667	1.64;1.64;1.64;1.35	4.9	1.17	0.20885	.	0.652543	0.15203	N	0.274929	T	0.19485	0.0468	L	0.43152	1.355	0.09310	N	0.999999	P;B;P;P	0.48230	0.61;0.236;0.849;0.907	B;B;B;B	0.32022	0.059;0.017;0.106;0.139	T	0.15292	-1.0442	10	0.30854	T	0.27	-1.6613	4.2987	0.10915	0.2408:0.0:0.4706:0.2885	.	596;606;1254;1254	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	T	1254;1254;1254;606	ENSP00000339381:A1254T;ENSP00000338509:A1254T;ENSP00000372238:A1254T;ENSP00000342133:A606T	ENSP00000338509:A1254T	A	+	1	0	RGS12	3402126	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.174000	0.16743	0.130000	0.18549	-0.182000	0.12963	GCC		0.677	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		7	5	0	0	0	1	0	7	5				
FANCB	2187	broad.mit.edu	37	X	14868629	14868629	+	Silent	SNP	C	C	T	rs199510538		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14868629C>T	ENST00000324138.3	-	6	1647	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	FANCB_ENST00000398334.1_Silent_p.K498K	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	498					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTACTTACAGCTTCAAAGAAG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1492-1494)aaG>aaA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							167.0	142.0	150.0					X																	14868629		2203	4297	6500	SO:0001819	synonymous_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14868629C>T	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1494G>A	X.37:g.14868629C>T						FANCB_ENST00000324138.3_Silent_p.K498K	p.K498K	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			7	1761	-	Hepatocellular(33;0.183)		498					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.1494G>A	CCDS14161.1																																																																																				0.353	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		66	105	0	0	0	1	0	66	105				
NAP1L3	4675	broad.mit.edu	37	X	92927767	92927767	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:92927767A>G	ENST00000373079.3	-	1	800	c.537T>C	c.(535-537)gaT>gaC	p.D179D	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.D172D|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	179	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGGGGTGTTATCCTGCACCT	0.448																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(535-537)gaT>gaC		nucleosome assembly protein 1-like 3							84.0	70.0	75.0					X																	92927767		2203	4300	6503	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927767A>G		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.537T>C	X.37:g.92927767A>G						NAP1L3_ENST00000475430.1_5'UTR	p.D179D	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	800	-			179			Glu-rich.		B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.537T>C	CCDS14465.1																																																																																				0.448	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		11	115	0	0	0	1	0	11	115				
ARHGEF18	23370	broad.mit.edu	37	19	7509119	7509119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7509119C>T	ENST00000359920.6	+	4	1079	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R118W|CTD-2207O23.3_ENST00000593531.1_Silent_p.C233C	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	276	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCACCACGTGCGGACGCTCAA	0.637																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(826-828)Cgg>Tgg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							58.0	50.0	52.0					19																	7509119		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7509119C>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.826C>T	19.37:g.7509119C>T	ENSP00000352995:p.Arg276Trp					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R118W|CTD-2207O23.3_ENST00000593531.1_Silent_p.C233C	p.R276W	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			4	1079	+		Renal(5;0.0902)	276			DH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.826C>T	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875052	0.72180	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.70869	-0.52;-0.52	5.0	5.0	0.66597	Dbl homology (DH) domain (5);	0.000000	0.51477	D	0.000093	D	0.85902	0.5805	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88287	0.2940	10	0.87932	D	0	-31.1827	10.9823	0.47501	0.1864:0.8136:0.0:0.0	.	276	Q6ZSZ5	ARHGI_HUMAN	W	118;276	ENSP00000319200:R118W;ENSP00000352995:R276W	ENSP00000319200:R118W	R	+	1	2	ARHGEF18	7415119	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	1.954000	0.40362	2.312000	0.78011	0.561000	0.74099	CGG		0.637	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		22	28	0	0	0	1	0	22	28				
AXL	558	broad.mit.edu	37	19	41748813	41748813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41748813C>T	ENST00000301178.4	+	11	1528	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	AXL_ENST00000359092.3_Silent_p.F437F|AXL_ENST00000593513.1_Silent_p.F178F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	446					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCTGCCTTCTCGTGGCCCT	0.567																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1336-1338)ttC>ttT		AXL receptor tyrosine kinase							158.0	128.0	138.0					19																	41748813		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41748813C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1338C>T	19.37:g.41748813C>T						AXL_ENST00000359092.3_Silent_p.F437F|AXL_ENST00000593513.1_Silent_p.F178F	p.F446F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			11	1528	+			446					Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.1338C>T	CCDS12575.1																																																																																				0.567	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			39	43	0	0	0	1	0	39	43				
MED12	9968	broad.mit.edu	37	X	70347223	70347223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70347223G>A	ENST00000374080.3	+	21	2919	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	MED12_ENST00000333646.6_Missense_Mutation_p.D963N|MED12_ENST00000374102.1_Missense_Mutation_p.D963N|MED12_ENST00000462984.1_3'UTR			Q93074	MED12_HUMAN	mediator complex subunit 12	963					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAACCGGTCCGATGGCTCCTC	0.512			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(2887-2889)Gat>Aat		mediator complex subunit 12							84.0	83.0	83.0					X																	70347223		2052	4165	6217	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70347223G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2887G>A	X.37:g.70347223G>A	ENSP00000363193:p.Asp963Asn					MED12_ENST00000374102.1_Missense_Mutation_p.D963N|MED12_ENST00000374080.3_Missense_Mutation_p.D963N	p.D963N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			21	3086	+	Renal(35;0.156)		963					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2887G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	29.1	4.975657	0.92919	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.86531	0.5955	L	0.61218	1.895	0.58432	D	0.999999	D;D;D;D	0.63880	0.989;0.965;0.993;0.991	P;B;P;P	0.58331	0.75;0.424;0.786;0.837	D	0.87736	0.2582	10	0.59425	D	0.04	-11.9749	17.5016	0.87733	0.0:0.0:1.0:0.0	.	963;810;963;963	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	N	963;963;963;963;931	ENSP00000333125:D963N;ENSP00000363215:D963N;ENSP00000363193:D963N;ENSP00000414203:D931N	ENSP00000333125:D963N	D	+	1	0	MED12	70263948	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	8.905000	0.92613	2.316000	0.78162	0.529000	0.55759	GAT		0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		16	21	0	0	0	1	0	16	21				
DCHS1	8642	broad.mit.edu	37	11	6640146	6640146	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640146C>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_3'UTR|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_Splice_Site_p.T30T|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_Intron	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGGCAGCCTGTAGGGTC	0.577																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e3-1		tripeptidyl peptidase I							46.0	50.0	48.0					11																	6640146		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640146C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640146C>T						TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR	p.T30_splice	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	150	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	30					O15098	Splice_Site	SNP	ENST00000299441.3	37	c.89_splice	CCDS7771.1																																																																																				0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	78	0	0	0	1	0	11	78				
LRCH1	23143	broad.mit.edu	37	13	47262041	47262041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:47262041C>T	ENST00000389798.3	+	6	1074	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	LRCH1_ENST00000389797.3_Nonsense_Mutation_p.Q293*|LRCH1_ENST00000311191.6_Nonsense_Mutation_p.Q293*	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	293										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAAGCATGCCAGATTAAGAC	0.408																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(877-879)Cag>Tag		leucine-rich repeats and calponin homology (CH) domain containing 1							92.0	92.0	92.0					13																	47262041		2203	4300	6503	SO:0001587	stop_gained	23143							g.chr13:47262041C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.877C>T	13.37:g.47262041C>T	ENSP00000374448:p.Gln293*					LRCH1_ENST00000389798.3_Nonsense_Mutation_p.Q293*|LRCH1_ENST00000389797.3_Nonsense_Mutation_p.Q293*	p.Q293*	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	6	1106	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	293					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Nonsense_Mutation	SNP	ENST00000389798.3	37	c.877C>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	C	37	6.510048	0.97624	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	.	.	.	5.38	5.38	0.77491	.	0.062472	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-5.399	18.4766	0.90795	0.0:1.0:0.0:0.0	.	.	.	.	X	293;293;293;39;39	.	ENSP00000308493:Q293X	Q	+	1	0	LRCH1	46160042	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.543000	0.45752	2.698000	0.92095	0.585000	0.79938	CAG		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		12	40	0	0	0	1	0	12	40				
STOX1	219736	broad.mit.edu	37	10	70646364	70646364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70646364G>T	ENST00000298596.6	+	3	2895	c.2812G>T	c.(2812-2814)Gat>Tat	p.D938Y	STOX1_ENST00000421961.2_Missense_Mutation_p.D828Y|STOX1_ENST00000399169.4_Missense_Mutation_p.D938Y|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	938						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TAGTGGAATAGATTCTCCACG	0.507																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2812-2814)Gat>Tat		storkhead box 1							58.0	56.0	56.0					10																	70646364		1972	4161	6133	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70646364G>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2812G>T	10.37:g.70646364G>T	ENSP00000298596:p.Asp938Tyr					STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.D938Y|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.D828Y	p.D938Y	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2895	+			938					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2812G>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762329	0.89932	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	D;D;T	0.82081	-1.57;-1.57;-1.24	5.92	5.92	0.95590	.	0.050966	0.85682	D	0.000000	D	0.91161	0.7216	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.91098	0.4912	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	938	Q6ZVD7	STOX1_HUMAN	Y	938;938;828	ENSP00000382121:D938Y;ENSP00000298596:D938Y;ENSP00000394509:D828Y	ENSP00000298596:D938Y	D	+	1	0	STOX1	70316370	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.102000	0.94226	2.809000	0.96659	0.655000	0.94253	GAT		0.507	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		21	21	1	0	7.45023e-12	1	9.32672e-12	21	21				
VILL	50853	broad.mit.edu	37	3	38047959	38047959	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38047959T>C	ENST00000283713.6	+	19	2491	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P	VILL_ENST00000383759.2_Missense_Mutation_p.L742P|VILL_ENST00000465644.1_Missense_Mutation_p.L460P			O15195	VILL_HUMAN	villin-like	742					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACTTGCGGCTATCCAGATGG	0.622																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2224-2226)cTa>cCa		villin-like							71.0	84.0	80.0					3																	38047959		2194	4281	6475	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047959T>C		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2225T>C	3.37:g.38047959T>C	ENSP00000283713:p.Leu742Pro					VILL_ENST00000465644.1_Missense_Mutation_p.L460P|VILL_ENST00000383759.2_Missense_Mutation_p.L742P	p.L742P			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2491	+			742					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2225T>C	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080568	0.36662	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.16073	2.51;2.51;2.37	3.14	1.97	0.26223	.	0.598230	0.16632	N	0.206019	T	0.14013	0.0339	L	0.50333	1.59	0.27929	N	0.937962	B	0.17268	0.021	B	0.15484	0.013	T	0.15065	-1.0450	10	0.48119	T	0.1	-12.7382	4.974	0.14131	0.0:0.1416:0.0:0.8584	.	742	O15195	VILL_HUMAN	P	742;742;728;460	ENSP00000283713:L742P;ENSP00000373266:L742P;ENSP00000422096:L460P	ENSP00000283713:L742P	L	+	2	0	VILL	38022963	0.000000	0.05858	0.389000	0.26208	0.780000	0.44128	0.528000	0.23002	0.612000	0.30071	0.379000	0.24179	CTA		0.622	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		9	93	0	0	0	1	0	9	93				
AKAP13	11214	broad.mit.edu	37	15	86125208	86125208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86125208C>A	ENST00000394518.2	+	7	4004	c.3909C>A	c.(3907-3909)ttC>ttA	p.F1303L	AKAP13_ENST00000361243.2_Missense_Mutation_p.F1303L|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1303					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAGTACTTTCCCACCTGGGG	0.527																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3907-3909)ttC>ttA		A kinase (PRKA) anchor protein 13							57.0	55.0	56.0					15																	86125208		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86125208C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3909C>A	15.37:g.86125208C>A	ENSP00000378026:p.Phe1303Leu					AKAP13_ENST00000361243.2_Missense_Mutation_p.F1303L	p.F1303L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	4004	+			1303					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3909C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	7.333	0.619421	0.14129	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.15834	2.39;2.39	5.53	-3.26	0.05064	.	.	.	.	.	T	0.06645	0.0170	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.41305	-0.9516	9	0.13853	T	0.58	.	1.1425	0.01769	0.1296:0.2898:0.2542:0.3263	.	1303;1303	Q12802;Q12802-2	AKP13_HUMAN;.	L	1303;1303;1302;1302	ENSP00000354718:F1303L;ENSP00000378026:F1303L	ENSP00000354718:F1303L	F	+	3	2	AKAP13	83926212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.686000	0.05161	-0.566000	0.06054	-0.302000	0.09304	TTC		0.527	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		27	37	1	0	4.7796e-09	1	5.77107e-09	27	37				
ZNF521	25925	broad.mit.edu	37	18	22805397	22805397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22805397G>A	ENST00000361524.3	-	4	2633	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R609*|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R829*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	829					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTTTTTCTCGCAAGTGTTTT	0.458			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2485-2487)Cga>Tga		zinc finger protein 521							159.0	155.0	156.0					18																	22805397		2203	4300	6503	SO:0001587	stop_gained	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805397G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2485C>T	18.37:g.22805397G>A	ENSP00000354794:p.Arg829*					ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R829*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R609*	p.R829*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2633	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		829					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	c.2485C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	37	6.056512	0.97241	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	5.93	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.8606	15.8625	0.79035	0.0:0.0:0.5804:0.4196	.	.	.	.	X	829;863;829	.	ENSP00000354794:R829X	R	-	1	2	ZNF521	21059395	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	1.108000	0.31123	0.812000	0.34326	0.655000	0.94253	CGA		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		53	88	0	0	0	1	0	53	88				
CHD4	1108	broad.mit.edu	37	12	6711198	6711198	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6711198A>G	ENST00000357008.2	-	4	529	c.366T>C	c.(364-366)ccT>ccC	p.P122P	CHD4_ENST00000309577.6_Silent_p.P122P|CHD4_ENST00000544040.1_Silent_p.P115P|CHD4_ENST00000544484.1_Silent_p.P119P	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	122					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTCTTTCTTAGGTCCAAGCT	0.517																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(364-366)ccT>ccC		chromodomain helicase DNA binding protein 4							27.0	29.0	28.0					12																	6711198		2193	4287	6480	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711198A>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.366T>C	12.37:g.6711198A>G						CHD4_ENST00000544040.1_Silent_p.P115P|CHD4_ENST00000544484.1_Silent_p.P119P|CHD4_ENST00000357008.2_Silent_p.P122P	p.P122P			Q14839	CHD4_HUMAN			4	529	-			122					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.366T>C	CCDS8552.1																																																																																				0.517	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		5	34	0	0	0	1	0	5	34				
PCDHB15	56121	broad.mit.edu	37	5	140627342	140627342	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140627342T>C	ENST00000231173.3	+	1	2196	c.2196T>C	c.(2194-2196)ttT>ttC	p.F732F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	732					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCCCCTTTCCAGGGCATC	0.622																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2194-2196)ttT>ttC									99.0	113.0	108.0					5																	140627342		2203	4298	6501	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627342T>C	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2196T>C	5.37:g.140627342T>C							p.F732F	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2196	+			732					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2196T>C	CCDS4257.1																																																																																				0.622	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		12	162	0	0	0	1	0	12	162				
LSM14A	26065	broad.mit.edu	37	19	34710693	34710693	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34710693A>G	ENST00000433627.5	+	8	1122	c.1047A>G	c.(1045-1047)ggA>ggG	p.G349G	LSM14A_ENST00000544216.3_Silent_p.G349G|LSM14A_ENST00000540746.2_Silent_p.G308G	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	349					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACAGTGAAGGAAATGCCGATG	0.353																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(1045-1047)ggA>ggG		LSM14A, SCD6 homolog A (S. cerevisiae)							85.0	80.0	82.0					19																	34710693		2203	4300	6503	SO:0001819	synonymous_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710693A>G	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1047A>G	19.37:g.34710693A>G						LSM14A_ENST00000540746.2_Silent_p.G308G|LSM14A_ENST00000433627.5_Silent_p.G349G	p.G349G	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			8	1124	+	Esophageal squamous(110;0.162)		349					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	c.1047A>G	CCDS46040.1																																																																																				0.353	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		8	33	0	0	0	1	0	8	33				
LRRC4B	94030	broad.mit.edu	37	19	51022514	51022514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022514C>A	ENST00000599957.1	-	3	653	c.456G>T	c.(454-456)caG>caT	p.Q152H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.Q152H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	152					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACTCGAAGGCCTGCGTGGGCA	0.647																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(454-456)caG>caT		leucine rich repeat containing 4B							52.0	57.0	56.0					19																	51022514		2203	4300	6503	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022514C>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.456G>T	19.37:g.51022514C>A	ENSP00000471502:p.Gln152His					LRRC4B_ENST00000389201.3_Missense_Mutation_p.Q152H	p.Q152H			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	653	-		all_neural(266;0.131)	152					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.456G>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595577	0.28445	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.91407	-2.84	3.96	3.96	0.45880	.	0.314324	0.25906	U	0.027530	T	0.80412	0.4618	N	0.12920	0.275	0.38047	D	0.935644	B	0.06786	0.001	B	0.08055	0.003	T	0.77416	-0.2596	10	0.51188	T	0.08	.	7.6699	0.28453	0.0:0.8857:0.0:0.1143	.	152	Q9NT99	LRC4B_HUMAN	H	152	ENSP00000373853:Q152H	ENSP00000373853:Q152H	Q	-	3	2	LRRC4B	55714326	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.674000	0.25218	2.235000	0.73313	0.491000	0.48974	CAG		0.647	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		22	45	1	0	1.10513e-12	1	1.39297e-12	22	45				
SMG8	55181	broad.mit.edu	37	17	57288491	57288491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57288491C>T	ENST00000543872.2	+	2	1343	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.T360I|SMG8_ENST00000300917.5_Missense_Mutation_p.T360I|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	360					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGTCATTGTACTGTGAAGGAC	0.532																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1078-1080)aCt>aTt		SMG8 nonsense mediated mRNA decay factor							82.0	66.0	72.0					17																	57288491		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288491C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1079C>T	17.37:g.57288491C>T	ENSP00000438748:p.Thr360Ile					SMG8_ENST00000300917.5_Missense_Mutation_p.T360I|SMG8_ENST00000578922.1_Missense_Mutation_p.T360I|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron	p.T360I			Q8ND04	SMG8_HUMAN			2	1343	+			360					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1079C>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562372	0.45694	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.49432	0.78;0.78	5.88	5.88	0.94601	.	0.132971	0.64402	D	0.000001	T	0.42063	0.1186	L	0.34521	1.04	0.46631	D	0.999138	B	0.14805	0.011	B	0.15870	0.014	T	0.12656	-1.0539	10	0.40728	T	0.16	-17.3076	19.2147	0.93772	0.0:1.0:0.0:0.0	.	360	Q8ND04	SMG8_HUMAN	I	360	ENSP00000300917:T360I;ENSP00000438748:T360I	ENSP00000300917:T360I	T	+	2	0	SMG8	54643273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.735000	0.55044	2.769000	0.95229	0.655000	0.94253	ACT		0.532	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		17	40	0	0	0	1	0	17	40				
ENTPD8	377841	broad.mit.edu	37	9	140331418	140331418	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140331418G>T	ENST00000472938.1	-	4	474	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	ENTPD8_ENST00000344119.2_Missense_Mutation_p.S153Y|ENTPD8_ENST00000371506.2_Missense_Mutation_p.S153Y			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	153					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTCCACGGGAGACCGGCCCAG	0.642																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(457-459)tCt>tAt		ectonucleoside triphosphate diphosphohydrolase 8							59.0	68.0	65.0					9																	140331418		2202	4300	6502	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331418G>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.458C>A	9.37:g.140331418G>T	ENSP00000420531:p.Ser153Tyr					ENTPD8_ENST00000472938.1_Missense_Mutation_p.S153Y|ENTPD8_ENST00000344119.2_Missense_Mutation_p.S153Y	p.S153Y	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	5	641	-	all_cancers(76;0.0926)		153					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.458C>A	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	2.227	-0.376989	0.05000	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.08193	3.12;3.12;3.12	3.9	2.99	0.34606	.	0.424395	0.22331	N	0.061478	T	0.03305	0.0096	N	0.12920	0.275	0.09310	N	0.999999	B;B	0.13145	0.007;0.005	B;B	0.12156	0.007;0.004	T	0.47923	-0.9079	10	0.02654	T	1	1.2207	4.4527	0.11628	0.1126:0.0:0.5429:0.3446	.	153;153	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	Y	153	ENSP00000344089:S153Y;ENSP00000360561:S153Y;ENSP00000420531:S153Y	ENSP00000344089:S153Y	S	-	2	0	ENTPD8	139451239	0.010000	0.17322	0.011000	0.14972	0.595000	0.36748	0.508000	0.22692	2.184000	0.69523	0.561000	0.74099	TCT		0.642	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		6	54	1	0	5.18039e-06	1	5.91835e-06	6	54				
JUP	3728	broad.mit.edu	37	17	39928078	39928078	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39928078G>T	ENST00000393931.3	-	2	147	c.29C>A	c.(28-30)cCt>cAt	p.P10H	JUP_ENST00000310706.5_Missense_Mutation_p.P10H|JUP_ENST00000540235.1_Missense_Mutation_p.P10H|JUP_ENST00000393930.1_Missense_Mutation_p.P10H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	10					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCTTGATAGGCTGCTCCAT	0.602																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(28-30)cCt>cAt		junction plakoglobin							62.0	58.0	59.0					17																	39928078		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39928078G>T	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.29C>A	17.37:g.39928078G>T	ENSP00000377508:p.Pro10His					JUP_ENST00000540235.1_Missense_Mutation_p.P10H|JUP_ENST00000310706.5_Missense_Mutation_p.P10H|JUP_ENST00000393930.1_Missense_Mutation_p.P10H	p.P10H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	2	147	-		Breast(137;0.000162)	10					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.29C>A	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153148	0.57259	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457;ENST00000437369	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.02	5.02	0.67125	.	0.313686	0.34652	N	0.003796	T	0.55210	0.1906	L	0.40543	1.245	0.42219	D	0.991845	D;P	0.89917	1.0;0.776	D;B	0.67231	0.95;0.258	T	0.54016	-0.8356	10	0.46703	T	0.11	-43.7033	17.5057	0.87745	0.0:0.0:1.0:0.0	.	10;10	B4DE59;P14923	.;PLAK_HUMAN	H	10	ENSP00000441751:P10H;ENSP00000377507:P10H;ENSP00000311113:P10H;ENSP00000377508:P10H;ENSP00000389886:P10H;ENSP00000394146:P10H;ENSP00000411449:P10H;ENSP00000401034:P10H;ENSP00000409948:P10H	ENSP00000311113:P10H	P	-	2	0	JUP	37181604	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.403000	0.59729	2.615000	0.88500	0.542000	0.68232	CCT		0.602	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			4	10	1	0	0.000602214	1	0.000649039	4	10				
SCAP	22937	broad.mit.edu	37	3	47459175	47459175	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459175C>T	ENST00000265565.5	-	17	3001	c.2589G>A	c.(2587-2589)ccG>ccA	p.P863P	SCAP_ENST00000441517.2_Silent_p.P607P|SCAP_ENST00000545718.1_Silent_p.P470P|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	863	Interaction with SREBF2. {ECO:0000250}.|Poly-Pro.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGAGGGAAGGCGGCGGAGGGC	0.662																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2587-2589)ccG>ccA		SREBF chaperone							15.0	20.0	18.0					3																	47459175		2184	4278	6462	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47459175C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2589G>A	3.37:g.47459175C>T						SCAP_ENST00000545718.1_Silent_p.P470P|SCAP_ENST00000441517.2_Silent_p.P607P	p.P863P	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	17	3001	-			863			Interaction with SREBF2 (By similarity).|Poly-Pro.		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.2589G>A	CCDS2755.2																																																																																				0.662	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		3	12	0	0	0	1	0	3	12				
FAM53B	9679	broad.mit.edu	37	10	126312126	126312126	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126312126C>A	ENST00000337318.3	-	5	1165	c.954G>T	c.(952-954)gaG>gaT	p.E318D	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.E318D	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	318										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GACCGCAGTCCTCTGTCCCTG	0.682																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(952-954)gaG>gaT		family with sequence similarity 53, member B							12.0	13.0	13.0					10																	126312126		2199	4292	6491	SO:0001583	missense	9679							g.chr10:126312126C>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.954G>T	10.37:g.126312126C>A	ENSP00000338532:p.Glu318Asp					FAM53B_ENST00000392754.3_Missense_Mutation_p.E318D|RP11-12J10.3_ENST00000494792.1_Intron	p.E318D	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1165	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	318					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.954G>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350854	0.24512	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	-2.39	0.06602	.	0.337924	0.29853	N	0.011034	T	0.20088	0.0483	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.07654	-1.0761	9	0.13108	T	0.6	-20.6559	6.9998	0.24803	0.1136:0.3512:0.4594:0.0758	.	318	Q14153	FA53B_HUMAN	D	318	.	ENSP00000338532:E318D	E	-	3	2	FAM53B	126302116	0.672000	0.27530	0.626000	0.29213	0.736000	0.42039	-0.496000	0.06436	-0.198000	0.10333	0.655000	0.94253	GAG		0.682	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		3	12	1	0	0.115264	1	0.117355	3	12				
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	C	T	rs199974771	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:619547C>T	ENST00000496514.1	+	1	153	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000255622.6_Silent_p.C44C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CGCCGGACTGCGACAGCCTCC	0.632																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(130-132)tgC>tgT		phosphodiesterase 6B, cGMP-specific, rod, beta							38.0	41.0	40.0					4																	619547		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619547C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.132C>T	4.37:g.619547C>T						PDE6B_ENST00000496514.1_Silent_p.C44C	p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			1	175	+			44					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.132C>T	CCDS33932.1																																																																																				0.632	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		18	20	0	0	0	1	0	18	20				
POLE	5426	broad.mit.edu	37	12	133201324	133201324	+	Missense_Mutation	SNP	G	G	T	rs148788180	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201324G>T	ENST00000320574.5	-	49	6863	c.6820C>A	c.(6820-6822)Ctg>Atg	p.L2274M	POLE_ENST00000535270.1_Missense_Mutation_p.L2247M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2274					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGCCACTCCAGGGTCTCCAGG	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6820-6822)Ctg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							80.0	81.0	81.0					12																	133201324		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201324G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6820C>A	12.37:g.133201324G>T	ENSP00000322570:p.Leu2274Met					POLE_ENST00000535270.1_Missense_Mutation_p.L2247M	p.L2274M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	49	6863	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2274					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6820C>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706124	0.48412	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02974	4.09;4.09;4.09	4.89	0.449	0.16619	.	0.137410	0.48767	D	0.000166	T	0.02156	0.0067	L	0.27053	0.805	0.23287	N	0.997977	B;B	0.26120	0.061;0.142	B;B	0.31390	0.062;0.129	T	0.42666	-0.9438	10	0.87932	D	0	.	1.649	0.02767	0.1756:0.1079:0.2728:0.4438	.	2274;484	Q07864;B3KS74	DPOE1_HUMAN;.	M	484;2274;2285;244;2247	ENSP00000322570:L2274M;ENSP00000406383:L2285M;ENSP00000445753:L2247M	ENSP00000322473:L244M	L	-	1	2	POLE	131711397	0.999000	0.42202	0.972000	0.41901	0.908000	0.53690	0.610000	0.24253	0.236000	0.21180	0.561000	0.74099	CTG		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		6	57	1	0	1.06961e-07	1	1.26574e-07	6	57				
FREM2	341640	broad.mit.edu	37	13	39438616	39438616	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39438616G>T	ENST00000280481.7	+	16	8072	c.7856G>T	c.(7855-7857)aGa>aTa	p.R2619I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2619					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGTCCATCAGAGGTTCCACT	0.433																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7855-7857)aGa>aTa		FRAS1 related extracellular matrix protein 2							165.0	152.0	157.0					13																	39438616		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39438616G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7856G>T	13.37:g.39438616G>T	ENSP00000280481:p.Arg2619Ile						p.R2619I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	16	8072	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2619					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7856G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438683	0.62955	.	.	ENSG00000150893	ENST00000280481	T	0.28895	1.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71244	-0.4650	10	0.87932	D	0	.	19.6291	0.95692	0.0:0.0:1.0:0.0	.	2619;2619	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	I	2619	ENSP00000280481:R2619I	ENSP00000280481:R2619I	R	+	2	0	FREM2	38336616	0.998000	0.40836	0.236000	0.24074	0.208000	0.24298	7.933000	0.87642	2.651000	0.90000	0.650000	0.86243	AGA		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		34	65	1	0	4.65686e-17	1	6.02554e-17	34	65				
TBC1D10C	374403	broad.mit.edu	37	11	67174430	67174430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67174430G>A	ENST00000542590.1	+	7	795	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.A261T			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	261	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGCCTCTTCGCCCGCTCCCT	0.687																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(781-783)Gcc>Acc		TBC1 domain family, member 10C							130.0	139.0	136.0					11																	67174430		2200	4295	6495	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67174430G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.781G>A	11.37:g.67174430G>A	ENSP00000443654:p.Ala261Thr					TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.A261T	p.A261T	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		8	810	+			261			Rab-GAP TBC.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.781G>A	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933835	0.18206	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.11385	2.78;2.78	4.16	1.73	0.24493	Rab-GAP/TBC domain (4);	0.174474	0.27513	N	0.019025	T	0.03477	0.0100	N	0.04148	-0.265	0.29266	N	0.870972	B	0.02656	0.0	B	0.11329	0.006	T	0.41161	-0.9524	10	0.10377	T	0.69	.	4.2526	0.10702	0.1459:0.0:0.3687:0.4853	.	261	Q8IV04	TB10C_HUMAN	T	261	ENSP00000310193:A261T;ENSP00000443654:A261T	ENSP00000310193:A261T	A	+	1	0	TBC1D10C	66931006	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	1.957000	0.40392	0.188000	0.20168	-0.475000	0.04921	GCC		0.687	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		87	111	0	0	0	1	0	87	111				
CSK	1445	broad.mit.edu	37	15	75093199	75093199	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75093199G>A	ENST00000220003.9	+	8	1387	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CSK_ENST00000567571.1_Missense_Mutation_p.A220T|CSK_ENST00000439220.2_Missense_Mutation_p.A220T|CSK_ENST00000309470.9_Missense_Mutation_p.A220T	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						GAACAAAGTCGCCGTCAAGTG	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000220003.9																			0				central_nervous_system(1)|lung(2)	3						c.(658-660)Gcc>Acc		c-src tyrosine kinase							30.0	29.0	29.0					15																	75093199		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75093199G>A		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.658G>A	15.37:g.75093199G>A	ENSP00000220003:p.Ala220Thr		OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1157	CSK_ENST00000567571.1_Missense_Mutation_p.A220T|CSK_ENST00000439220.2_Missense_Mutation_p.A220T|CSK_ENST00000309470.9_Missense_Mutation_p.A220T	p.A220T	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN			8	1387	+			220			Protein kinase.		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.658G>A	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624283	0.96660	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.59772	0.24;0.24;0.24	4.99	4.99	0.66335	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89183	0.3545	10	0.87932	D	0	-13.6414	18.0393	0.89314	0.0:0.0:1.0:0.0	.	220	P41240	CSK_HUMAN	T	220;220;169;220	ENSP00000220003:A220T;ENSP00000414764:A220T;ENSP00000438808:A220T	ENSP00000220003:A220T	A	+	1	0	CSK	72880252	1.000000	0.71417	0.527000	0.27925	0.980000	0.70556	9.105000	0.94246	2.592000	0.87571	0.591000	0.81541	GCC		0.632	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		10	12	0	0	0	1	0	10	12				
DNMBP	23268	broad.mit.edu	37	10	101646233	101646233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101646233C>A	ENST00000324109.4	-	13	3533	c.3442G>T	c.(3442-3444)Gag>Tag	p.E1148*	DNMBP_ENST00000540316.1_Nonsense_Mutation_p.E84*|DNMBP_ENST00000342239.3_Nonsense_Mutation_p.E1172*|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Nonsense_Mutation_p.E394*	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1148	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCAGCTCCTCCAGGGTCTTC	0.542																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3514-3516)Gag>Tag		dynamin binding protein							121.0	122.0	122.0					10																	101646233		2203	4300	6503	SO:0001587	stop_gained	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101646233C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3442G>T	10.37:g.101646233C>A	ENSP00000315659:p.Glu1148*					DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Nonsense_Mutation_p.E394*|DNMBP_ENST00000540316.1_Nonsense_Mutation_p.E84*|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E1148*	p.E1172*			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	13	3605	-		Colorectal(252;0.234)	1148			BAR.		Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	c.3514G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	39	7.807573	0.98501	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	.	.	.	5.82	5.82	0.92795	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-28.8215	19.7034	0.96065	0.0:1.0:0.0:0.0	.	.	.	.	X	1172;1148;394;394;84	.	ENSP00000315659:E1148X	E	-	1	0	DNMBP	101636223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.784000	0.85713	2.756000	0.94617	0.561000	0.74099	GAG		0.542	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		49	77	1	0	4.01344e-20	1	5.26117e-20	49	77				
STAB1	23166	broad.mit.edu	37	3	52553295	52553295	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52553295A>G	ENST00000321725.6	+	49	5126	c.5050A>G	c.(5050-5052)Aat>Gat	p.N1684D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1684	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATATACCTCAATGACTTCGC	0.642																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(5050-5052)Aat>Gat		stabilin 1							108.0	116.0	113.0					3																	52553295		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52553295A>G	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5050A>G	3.37:g.52553295A>G	ENSP00000312946:p.Asn1684Asp						p.N1684D	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	49	5126	+			1684			FAS1 5.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5050A>G	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	A	34	5.355983	0.95854	.	.	ENSG00000010327	ENST00000321725	D	0.93189	-3.18	5.5	5.5	0.81552	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	L	0.48260	1.515	0.47862	D	0.999531	D	0.89917	1.0	D	0.97110	1.0	D	0.95629	0.8688	10	0.87932	D	0	.	14.1851	0.65601	1.0:0.0:0.0:0.0	.	1684	Q9NY15	STAB1_HUMAN	D	1684	ENSP00000312946:N1684D	ENSP00000312946:N1684D	N	+	1	0	STAB1	52528335	1.000000	0.71417	0.981000	0.43875	0.869000	0.49853	7.078000	0.76821	2.082000	0.62665	0.533000	0.62120	AAT		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		6	134	0	0	0	1	0	6	134				
ARL14	80117	broad.mit.edu	37	3	160395143	160395143	+	Silent	SNP	G	G	A	rs144011121	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160395143G>A	ENST00000320767.2	+	1	196	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	3					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			AAATGGGTTCGCTGGGTTCTA	0.393													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18978	0.0		0.0	False		,,,				2504	0.002					ENST00000320767.2																			0				lung(6)	6						c.(7-9)tcG>tcA		ADP-ribosylation factor-like 14		G		2,4404	6.2+/-15.9	0,2,2201	41.0	40.0	40.0		9	-6.6	0.0	3	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	ARL14	NM_025047.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		3/193	160395143	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395143G>A	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.9G>A	3.37:g.160395143G>A							p.S3S	NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	196	+			3					Q9H655	Silent	SNP	ENST00000320767.2	37	c.9G>A	CCDS3192.1																																																																																				0.393	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		30	36	0	0	0	1	0	30	36				
ELMOD3	84173	broad.mit.edu	37	2	85617291	85617291	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617291C>T	ENST00000409890.2	+	13	1513	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Silent_p.P282P|ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P|ELMOD3_ENST00000315658.7_Silent_p.P282P			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567																																						ENST00000315658.7																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(844-846)ccC>ccT		ELMO/CED-12 domain containing 3							104.0	84.0	91.0					2																	85617291		2203	4300	6503	SO:0001819	synonymous_variant	84173				phagocytosis	cytoskeleton		g.chr2:85617291C>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.846C>T	2.37:g.85617291C>T						ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P	p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN			11	1105	+			282			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	ENST00000409890.2	37	c.846C>T	CCDS46352.1																																																																																				0.567	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		4	45	0	0	0	1	0	4	45				
SKIL	6498	broad.mit.edu	37	3	170078168	170078168	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170078168A>C	ENST00000458537.3	+	1	758	c.49A>C	c.(49-51)Aaa>Caa	p.K17Q	SKIL_ENST00000413427.2_Missense_Mutation_p.K17Q|SKIL_ENST00000259119.4_Missense_Mutation_p.K17Q|SKIL_ENST00000426052.2_5'UTR	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	17					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCAACTAAAAAACTGAATGG	0.388																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(49-51)Aaa>Caa		SKI-like oncogene							62.0	69.0	67.0					3																	170078168		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078168A>C	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.49A>C	3.37:g.170078168A>C	ENSP00000415243:p.Lys17Gln					SKIL_ENST00000413427.2_Missense_Mutation_p.K17Q|SKIL_ENST00000426052.2_5'UTR|SKIL_ENST00000259119.4_Missense_Mutation_p.K17Q	p.K17Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	758	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		17					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.49A>C	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705251	0.48412	.	.	ENSG00000136603	ENST00000476188;ENST00000259119;ENST00000413427;ENST00000458537	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.39	5.39	0.77823	.	0.168959	0.50627	D	0.000120	T	0.54806	0.1881	L	0.51422	1.61	0.32412	N	0.550523	P;B	0.41188	0.741;0.381	B;B	0.40329	0.326;0.25	T	0.66709	-0.5855	10	0.40728	T	0.16	-25.9204	15.7585	0.78058	1.0:0.0:0.0:0.0	.	17;17	P12757-3;P12757	.;SKIL_HUMAN	Q	17	ENSP00000417670:K17Q;ENSP00000259119:K17Q;ENSP00000400193:K17Q;ENSP00000415243:K17Q	ENSP00000259119:K17Q	K	+	1	0	SKIL	171560862	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.777000	0.55364	2.175000	0.68902	0.477000	0.44152	AAA		0.388	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		30	46	0	0	0	1	0	30	46				
TBC1D4	9882	broad.mit.edu	37	13	75873473	75873473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75873473G>A	ENST00000377636.3	-	17	3495	c.3149C>T	c.(3148-3150)tCg>tTg	p.S1050L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.S987L|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1042L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S214L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1050	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.S1050L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGCAGCGACATCATGTC	0.468																																						ENST00000377636.3																			1	Substitution - Missense(1)	p.S1050L(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3148-3150)tCg>tTg		TBC1 domain family, member 4							61.0	66.0	64.0					13																	75873473		2018	4187	6205	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75873473G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3149C>T	13.37:g.75873473G>A	ENSP00000366863:p.Ser1050Leu					TBC1D4_ENST00000377625.2_Missense_Mutation_p.S987L|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1042L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S214L	p.S1050L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	17	3495	-		Prostate(6;0.014)|Breast(118;0.0982)	1050			Rab-GAP TBC.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.3149C>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079711	0.94050	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.63	5.63	0.86233	Rab-GAP/TBC domain (5);	0.538598	0.18122	N	0.151017	T	0.35682	0.0940	N	0.22421	0.69	0.80722	D	1	P;P;D;D	0.89917	0.67;0.804;0.995;1.0	B;B;P;D	0.83275	0.111;0.282;0.723;0.996	T	0.07102	-1.0790	10	0.36615	T	0.2	-3.4762	19.6818	0.95967	0.0:0.0:1.0:0.0	.	214;987;1042;1050	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	L	1050;1042;987;214	ENSP00000366863:S1050L;ENSP00000395986:S1042L;ENSP00000366852:S987L;ENSP00000390654:S214L	ENSP00000366852:S987L	S	-	2	0	TBC1D4	74771474	1.000000	0.71417	0.951000	0.38953	0.969000	0.65631	6.358000	0.73055	2.641000	0.89580	0.591000	0.81541	TCG		0.468	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		12	22	0	0	0	1	0	12	22				
PREX1	57580	broad.mit.edu	37	20	47309244	47309244	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47309244T>G	ENST00000371941.3	-	8	1024	c.1002A>C	c.(1000-1002)gaA>gaC	p.E334D	PREX1_ENST00000396220.1_Missense_Mutation_p.E334D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	334	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCCATGACTTCAGTGTTGA	0.577																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1000-1002)gaA>gaC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							206.0	162.0	177.0					20																	47309244		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47309244T>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1002A>C	20.37:g.47309244T>G	ENSP00000361009:p.Glu334Asp					PREX1_ENST00000371941.3_Missense_Mutation_p.E334D	p.E334D			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		8	1024	-			334			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1002A>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545878	0.65198	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.75589	-0.95;-0.95	5.22	-0.968	0.10313	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.56097	U	0.000033	T	0.74061	0.3667	N	0.25380	0.74	0.53005	D	0.999969	D	0.89917	1.0	D	0.91635	0.999	T	0.68254	-0.5457	10	0.32370	T	0.25	.	12.5051	0.55977	0.0:0.4785:0.0:0.5215	.	334	Q8TCU6	PREX1_HUMAN	D	334	ENSP00000361009:E334D;ENSP00000379522:E334D	ENSP00000361009:E334D	E	-	3	2	PREX1	46742651	0.983000	0.35010	0.987000	0.45799	0.984000	0.73092	0.195000	0.17155	-0.384000	0.07845	-0.256000	0.11100	GAA		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		9	55	0	0	0	1	0	9	55				
SLC39A2	29986	broad.mit.edu	37	14	21469172	21469172	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21469172C>A	ENST00000298681.4	+	4	521	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	122					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTTGGAGTCGCTGGCATTGCA	0.502																																						ENST00000298681.4																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(364-366)Ctg>Atg		solute carrier family 39 (zinc transporter), member 2							182.0	190.0	188.0					14																	21469172		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469172C>A	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.364C>A	14.37:g.21469172C>A	ENSP00000298681:p.Leu122Met					SLC39A2_ENST00000554422.1_3'UTR	p.L122M	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	521	+	all_cancers(95;0.00267)		122					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.364C>A	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306081	0.60305	.	.	ENSG00000165794	ENST00000298681	T	0.52526	0.66	5.7	5.7	0.88788	.	0.302773	0.32563	N	0.005934	T	0.64853	0.2636	M	0.68728	2.09	0.40981	D	0.984778	D	0.71674	0.998	D	0.72338	0.977	T	0.66586	-0.5886	10	0.54805	T	0.06	-8.4689	12.2986	0.54862	0.1692:0.8308:0.0:0.0	.	122	Q9NP94	S39A2_HUMAN	M	122	ENSP00000298681:L122M	ENSP00000298681:L122M	L	+	1	2	SLC39A2	20539012	0.778000	0.28640	0.909000	0.35828	0.950000	0.60333	1.298000	0.33412	2.687000	0.91594	0.655000	0.94253	CTG		0.502	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		91	215	1	0	2.22755e-30	1	2.98475e-30	91	215				
FAM66D	100132923	broad.mit.edu	37	8	11986660	11986660	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11986660G>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		CACAGAGGTCGACACGGGTCT	0.547																																						ENST00000434078.2																			0																																																			0							g.chr8:11986660G>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986660G>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.547	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		19	5	0	0	0	1	0	19	5				
GNL2	29889	broad.mit.edu	37	1	38058337	38058337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38058337C>A	ENST00000373062.3	-	3	318	c.220G>T	c.(220-222)Gta>Tta	p.V74L		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	74					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTTGGCTCTACTCTTGCCACT	0.383																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(220-222)Gta>Tta		guanine nucleotide binding protein-like 2 (nucleolar)							144.0	139.0	140.0					1																	38058337		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38058337C>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.220G>T	1.37:g.38058337C>A	ENSP00000362153:p.Val74Leu						p.V74L	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			3	318	-		Myeloproliferative disorder(586;0.0393)	74					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.220G>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099962	0.94197	.	.	ENSG00000134697	ENST00000373062	T	0.35048	1.33	5.46	5.46	0.80206	Nucleolar GTPase, NGP1-type (1);	0.000000	0.85682	D	0.000000	T	0.70369	0.3216	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.78406	-0.2216	10	0.87932	D	0	-17.6374	19.3193	0.94231	0.0:1.0:0.0:0.0	.	74;74	Q5T0F3;Q13823	.;NOG2_HUMAN	L	74	ENSP00000362153:V74L	ENSP00000362153:V74L	V	-	1	0	GNL2	37830924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.623000	0.83113	2.559000	0.86315	0.655000	0.94253	GTA		0.383	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		4	132	1	0	0.014758	1	0.0152625	4	132				
SEMA4F	10505	broad.mit.edu	37	2	74902971	74902971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74902971G>T	ENST00000357877.2	+	12	1727	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q371H	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	526	PSI.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCCTGGCCCAGGACCCAGTCT	0.587																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1576-1578)caG>caT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							81.0	76.0	78.0					2																	74902971		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902971G>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1578G>T	2.37:g.74902971G>T	ENSP00000350547:p.Gln526His					SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q371H	p.Q526H	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			12	1727	+			526			PSI.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1578G>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261188	0.39995	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.24350	1.86;1.86	4.26	-1.16	0.09678	.	0.184943	0.34435	N	0.003965	T	0.23572	0.0570	N	0.19112	0.55	0.34968	D	0.752861	P;P	0.51147	0.942;0.581	P;P	0.55824	0.785;0.516	T	0.25502	-1.0130	10	0.87932	D	0	.	8.3098	0.32064	0.6404:0.0:0.3596:0.0	.	371;526	O95754-2;O95754	.;SEM4F_HUMAN	H	526;371	ENSP00000350547:Q526H;ENSP00000342675:Q371H	ENSP00000342675:Q371H	Q	+	3	2	SEMA4F	74756479	0.206000	0.23470	0.992000	0.48379	0.489000	0.33432	-0.164000	0.09983	-0.386000	0.07821	-0.373000	0.07131	CAG		0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		22	33	1	0	1.55795e-14	1	1.98882e-14	22	33				
KCNQ4	9132	broad.mit.edu	37	1	41303411	41303411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41303411C>T	ENST00000347132.5	+	13	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	607	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.A607V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCCTCCGACGCGGAGGTGGTG	0.627																																						ENST00000347132.5																			1	Substitution - Missense(1)	p.A607V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(1819-1821)gCg>gTg		potassium voltage-gated channel, KQT-like subfamily, member 4							55.0	49.0	51.0					1																	41303411		2202	4300	6502	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41303411C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1820C>T	1.37:g.41303411C>T	ENSP00000262916:p.Ala607Val					KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V	p.A607V	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		13	1902	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	607			A-domain (Tetramerization).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1820C>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381716	0.24944	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99619	-6.28;-6.28	4.85	1.95	0.26073	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.852454	0.10672	N	0.647448	D	0.97826	0.9286	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.20550	0.012;0.046	B;B	0.15052	0.009;0.012	D	0.96273	0.9200	10	0.28530	T	0.3	-0.5687	6.8325	0.23917	0.0:0.6161:0.0:0.3839	.	553;607	P56696-2;P56696	.;KCNQ4_HUMAN	V	607;553	ENSP00000262916:A607V;ENSP00000423756:A553V	ENSP00000262916:A607V	A	+	2	0	KCNQ4	41075998	0.000000	0.05858	0.090000	0.20809	0.815000	0.46073	0.306000	0.19279	0.131000	0.18576	0.407000	0.27541	GCG		0.627	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		8	3	0	0	0	1	0	8	3				
DCC	1630	broad.mit.edu	37	18	50592436	50592436	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50592436A>G	ENST00000442544.2	+	7	1777	c.1161A>G	c.(1159-1161)atA>atG	p.I387M	DCC_ENST00000581580.1_Missense_Mutation_p.I42M|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.I235M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	387	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTTACGGATACTTGGGGTGG	0.428																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1159-1161)atA>atG		deleted in colorectal carcinoma							180.0	176.0	178.0					18																	50592436		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50592436A>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1161A>G	18.37:g.50592436A>G	ENSP00000389140:p.Ile387Met					DCC_ENST00000412726.1_Missense_Mutation_p.I235M|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.I42M	p.I387M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	7	1777	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	387			Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1161A>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	9.728	1.161435	0.21538	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.79033	-1.23;-1.23	5.31	2.41	0.29592	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.86360	0.5914	M	0.89163	3.01	0.36152	D	0.847507	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.993;0.993;0.994	D	0.85024	0.0913	10	0.87932	D	0	.	3.9747	0.09468	0.1798:0.4954:0.0:0.3248	.	235;235;387	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	M	387;320;235	ENSP00000389140:I387M;ENSP00000397322:I235M	ENSP00000304146:I320M	I	+	3	3	DCC	48846434	0.997000	0.39634	0.997000	0.53966	0.979000	0.70002	0.471000	0.22100	0.178000	0.19917	-0.340000	0.08031	ATA		0.428	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		13	135	0	0	0	1	0	13	135				
PSMC2	5701	broad.mit.edu	37	7	103003137	103003137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103003137G>A	ENST00000435765.1	+	7	838	c.427G>A	c.(427-429)Gat>Aat	p.D143N	PSMC2_ENST00000292644.3_Missense_Mutation_p.D143N|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.D6N	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						CCTTAGCGTGGATAGAAATAA	0.343																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(427-429)Gat>Aat		proteasome (prosome, macropain) 26S subunit, ATPase, 2							86.0	92.0	90.0					7																	103003137		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103003137G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.427G>A	7.37:g.103003137G>A	ENSP00000391211:p.Asp143Asn					PSMC2_ENST00000292644.3_Missense_Mutation_p.D143N|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.D6N|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	p.D143N	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			7	838	+			143					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.427G>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426293	0.96131	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94650	-3.48;-3.48;-3.37	5.22	5.22	0.72569	.	0.042517	0.85682	N	0.000000	D	0.96408	0.8828	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96784	0.9577	10	0.72032	D	0.01	-19.2427	19.148	0.93476	0.0:0.0:1.0:0.0	.	143	P35998	PRS7_HUMAN	N	143;143;6	ENSP00000391211:D143N;ENSP00000292644:D143N;ENSP00000445546:D6N	ENSP00000292644:D143N	D	+	1	0	PSMC2	102790373	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.709000	0.98729	2.602000	0.87976	0.655000	0.94253	GAT		0.343	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		36	32	0	0	0	1	0	36	32				
DSEL	92126	broad.mit.edu	37	18	65181680	65181680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:65181680G>T	ENST00000310045.7	-	2	1669	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	56					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTTCTTCAGCTTTTGGTTG	0.378																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(196-198)Ctg>Atg		dermatan sulfate epimerase-like							116.0	108.0	111.0					18																	65181680		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181680G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.196C>A	18.37:g.65181680G>T	ENSP00000310565:p.Leu66Met						p.L66M	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	1669	-		Esophageal squamous(42;0.129)	56					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.196C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257475	0.39896	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24723	1.84	4.17	4.17	0.49024	.	1.015900	0.07887	U	0.970618	T	0.19327	0.0464	N	0.22421	0.69	0.27551	N	0.950494	B	0.13594	0.008	B	0.09377	0.004	T	0.07347	-1.0777	10	0.36615	T	0.2	1.6695	10.3405	0.43875	0.0:0.1436:0.7086:0.1479	.	56	Q8IZU8	DSEL_HUMAN	M	66;56	ENSP00000310565:L66M	ENSP00000310565:L66M	L	-	1	2	DSEL	63332660	0.929000	0.31497	0.992000	0.48379	0.995000	0.86356	2.012000	0.40932	2.060000	0.61445	0.561000	0.74099	CTG		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		38	64	1	0	1.30015e-28	1	1.73796e-28	38	64				
TTC21B	79809	broad.mit.edu	37	2	166775891	166775891	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166775891G>T	ENST00000243344.7	-	13	1706	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	523					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAGCATAAGAGGGATTGTGTT	0.353																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(1567-1569)ccC>ccA		tetratricopeptide repeat domain 21B							120.0	115.0	116.0					2																	166775891		2203	4300	6503	SO:0001819	synonymous_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166775891G>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1569C>A	2.37:g.166775891G>T							p.P523P	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			13	1706	-			523					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	c.1569C>A	CCDS33315.1																																																																																				0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		5	93	1	0	1.23904e-05	1	1.39987e-05	5	93				
ANO5	203859	broad.mit.edu	37	11	22281285	22281285	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22281285T>G	ENST00000324559.8	+	15	1945	c.1628T>G	c.(1627-1629)aTg>aGg	p.M543R	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	543					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCACAAAAATGGGTAAGCTG	0.363																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1627-1629)aTg>aGg		anoctamin 5							55.0	52.0	53.0					11																	22281285		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22281285T>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1628T>G	11.37:g.22281285T>G	ENSP00000315371:p.Met543Arg						p.M543R	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			15	1945	+			543						Missense_Mutation	SNP	ENST00000324559.8	37	c.1628T>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921344	0.73213	.	.	ENSG00000171714	ENST00000324559	T	0.65178	-0.14	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78902	-0.2021	10	0.42905	T	0.14	.	15.2597	0.73613	0.0:0.0:0.0:1.0	.	543	Q75V66	ANO5_HUMAN	R	543	ENSP00000315371:M543R	ENSP00000315371:M543R	M	+	2	0	ANO5	22237861	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.029000	0.88807	2.007000	0.58848	0.477000	0.44152	ATG		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		7	28	0	0	0	1	0	7	28				
DOK3	79930	broad.mit.edu	37	5	176931382	176931382	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931382G>T	ENST00000357198.4	-	6	1097	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000501403.2_Missense_Mutation_p.L309M	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	365	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGTAGCGGCAGGCTCTGGGGT	0.672																																						ENST00000501403.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(925-927)Ctg>Atg		docking protein 3							17.0	21.0	20.0					5																	176931382		2198	4293	6491	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931382G>T	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1093C>A	5.37:g.176931382G>T	ENSP00000349727:p.Leu365Met					DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.L365M|DOK3_ENST00000312943.6_Intron	p.L309M			Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1274	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	365			IRS-type PTB.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.925C>A	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	g	13.45	2.241282	0.39598	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.36157	1.97;1.27	3.85	2.98	0.34508	.	44.237000	0.00166	N	0.000000	T	0.45094	0.1325	L	0.32530	0.975	0.24664	N	0.993457	D	0.65815	0.995	P	0.59221	0.854	T	0.21211	-1.0252	10	0.33940	T	0.23	-7.1536	6.3949	0.21607	0.1044:0.1858:0.7097:0.0	.	365	Q7L591	DOK3_HUMAN	M	365;309	ENSP00000349727:L365M;ENSP00000421688:L309M	ENSP00000349727:L365M	L	-	1	2	DOK3	176863988	1.000000	0.71417	0.710000	0.30468	0.482000	0.33219	4.540000	0.60664	0.830000	0.34757	0.306000	0.20318	CTG		0.672	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		4	19	1	0	0.000602214	1	0.000649039	4	19				
KMT2D	8085	broad.mit.edu	37	12	49444195	49444195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49444195C>T	ENST00000301067.7	-	11	3175	c.3176G>A	c.(3175-3177)gGg>gAg	p.G1059E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1059	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACTACCTTCCCTATGGGACT	0.577																																						ENST00000301067.7																			0											c.(3175-3177)gGg>gAg		lysine (K)-specific methyltransferase 2D							48.0	52.0	50.0					12																	49444195		2045	4195	6240	SO:0001583	missense	8085							g.chr12:49444195C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3176G>A	12.37:g.49444195C>T	ENSP00000301067:p.Gly1059Glu						p.G1059E	NM_003482.3	NP_003473.3					11	3175	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3176G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	3.139	-0.176812	0.06380	.	.	ENSG00000167548	ENST00000301067	T	0.75704	-0.96	4.95	1.62	0.23740	.	1.048160	0.07633	N	0.928994	T	0.54159	0.1841	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47407	-0.9120	10	0.87932	D	0	.	6.291	0.21059	0.0:0.328:0.0:0.672	.	1059	O14686	MLL2_HUMAN	E	1059	ENSP00000301067:G1059E	ENSP00000301067:G1059E	G	-	2	0	MLL2	47730462	0.040000	0.19996	0.086000	0.20670	0.505000	0.33919	0.323000	0.19593	0.340000	0.23745	0.563000	0.77884	GGG		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	14	0	0	0	1	0	7	14				
FLNB	2317	broad.mit.edu	37	3	58080562	58080562	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58080562G>T	ENST00000295956.4	+	5	952		c.e5-1		FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCTGTGGCAGGAATCGAGCC	0.562																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e5-1		filamin B, beta							164.0	159.0	161.0					3																	58080562		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58080562G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.788-1G>T	3.37:g.58080562G>T						FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000493452.1_Splice_Site				O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	5	952	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37		CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335785	0.81801	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58055602	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.797000	0.99108	2.832000	0.97577	0.655000	0.94253	.		0.562	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	15	175	1	0	1.49906e-05	1	1.69169e-05	15	175				
SH2B1	25970	broad.mit.edu	37	16	28855565	28855565	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28855565C>T	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Missense_Mutation_p.R303H|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CACCACAGTGCGGATGTTCTT	0.582																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(907-909)cGc>cAc		Tu translation elongation factor, mitochondrial							172.0	144.0	153.0					16																	28855565		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28855565C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855565C>T	Exception_encountered						p.R303H	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN			7	1046	-			300					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.908G>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475801	0.63737	.	.	ENSG00000178952	ENST00000313511	T	0.63744	-0.06	5.83	5.83	0.93111	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.055945	0.64402	D	0.000001	T	0.65270	0.2675	L	0.29908	0.895	0.44834	D	0.997848	D	0.61697	0.99	P	0.53809	0.735	T	0.68247	-0.5459	10	0.87932	D	0	0.4503	18.8922	0.92408	0.0:1.0:0.0:0.0	.	300	P49411	EFTU_HUMAN	H	303	ENSP00000322439:R303H	ENSP00000322439:R303H	R	-	2	0	TUFM	28763066	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	3.540000	0.53611	2.755000	0.94549	0.491000	0.48974	CGC		0.582	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		31	44	0	0	0	1	0	31	44				
RGS12	6002	broad.mit.edu	37	4	3344777	3344777	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3344777T>C	ENST00000344733.5	+	3	2899	c.1995T>C	c.(1993-1995)ctT>ctC	p.L665L	RGS12_ENST00000382788.3_Silent_p.L665L|RGS12_ENST00000306648.7_Silent_p.L63L|RGS12_ENST00000543385.1_Silent_p.L665L|RGS12_ENST00000336727.3_Silent_p.L665L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	665					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGATGATCTTGAGGTAATTT	0.443																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1993-1995)ctT>ctC		regulator of G-protein signaling 12							105.0	99.0	101.0					4																	3344777		2202	4300	6502	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3344777T>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1995T>C	4.37:g.3344777T>C						RGS12_ENST00000382788.3_Silent_p.L665L|RGS12_ENST00000306648.7_Silent_p.L63L|RGS12_ENST00000344733.5_Silent_p.L665L|RGS12_ENST00000543385.1_Silent_p.L665L	p.L665L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	2899	+			665					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.1995T>C	CCDS3366.1																																																																																				0.443	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		4	33	0	0	0	1	0	4	33				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261783	39261783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39261783G>T	ENST00000391415.1	+	1	200	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	48	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGTGTATCCAGCTGCTGCAGG	0.652																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(142-144)aGc>aTc		keratin associated protein 4-9							15.0	22.0	20.0					17																	39261783		686	1591	2277	SO:0001583	missense	100132386					keratin filament		g.chr17:39261783G>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.143G>T	17.37:g.39261783G>T	ENSP00000375234:p.Ser48Ile						p.S48I	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	200	+			48			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.143G>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	7.689	0.690591	0.15039	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.34859	1.34	3.38	3.38	0.38709	.	1.992680	0.04160	U	0.322823	T	0.60894	0.2304	M	0.87758	2.905	0.29762	N	0.835484	D	0.59357	0.985	P	0.58130	0.833	T	0.40232	-0.9574	10	0.72032	D	0.01	.	6.9499	0.24540	0.1335:0.0:0.8665:0.0	.	48	Q9BYQ8	KRA49_HUMAN	I	48	ENSP00000375234:S48I	ENSP00000334461:S48I	S	+	2	0	KRTAP4-9	36515309	0.000000	0.05858	0.830000	0.32933	0.293000	0.27360	-0.301000	0.08232	1.612000	0.50221	0.306000	0.20318	AGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	36	1	0	0.0477658	1	0.0488009	4	36				
LGI3	203190	broad.mit.edu	37	8	22006277	22006277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22006277C>T	ENST00000306317.2	-	8	1332	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	LGI3_ENST00000424267.2_Missense_Mutation_p.S324N	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	348					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGCCTTGGAGCTGTCAGCCAC	0.617																																						ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1042-1044)aGc>aAc		leucine-rich repeat LGI family, member 3							81.0	62.0	69.0					8																	22006277		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006277C>T	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1043G>A	8.37:g.22006277C>T	ENSP00000302297:p.Ser348Asn					LGI3_ENST00000424267.2_Missense_Mutation_p.S324N	p.S348N	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1332	-			348					A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.1043G>A	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565001	0.86439	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	D;D	0.82526	-1.62;-1.62	4.6	4.6	0.57074	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.65975	2.015	0.58432	D	0.99999	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.90732	0.4643	10	0.87932	D	0	-35.119	14.9741	0.71257	0.0:1.0:0.0:0.0	.	324;348	A5PLP2;Q8N145	.;LGI3_HUMAN	N	348;324	ENSP00000302297:S348N;ENSP00000399121:S324N	ENSP00000302297:S348N	S	-	2	0	LGI3	22062222	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.651000	0.83577	2.366000	0.80165	0.561000	0.74099	AGC		0.617	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			17	20	0	0	0	1	0	17	20				
IGHV5-51	28388	broad.mit.edu	37	14	107034966	107034966	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107034966C>A	ENST00000390626.2	-	0	172									immunoglobulin heavy variable 5-51																		TACAGGAGATCTTCAGAGACT	0.567																																						ENST00000390626.2																			0																				22.0	25.0	24.0					14																	107034966		1939	4138	6077			0							g.chr14:107034966C>A	M99686		14q32.33	2012-02-08			ENSG00000211966	ENSG00000211966		"""Immunoglobulins / IGH locus"""	5659	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151960		14.37:g.107034966C>A														0	172	-									RNA	SNP	ENST00000390626.2	37																																																																																						0.567	IGHV5-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324606.1	NG_001019		7	16	1	0	5.18039e-06	1	5.91835e-06	7	16				
GRIN2B	2904	broad.mit.edu	37	12	13906548	13906548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13906548G>A	ENST00000609686.1	-	3	922	c.713C>T	c.(712-714)aCc>aTc	p.T238I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	238					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T238I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAAGATGTAGGTGGCTTCTTC	0.512																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.T238I(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(712-714)aCc>aTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	128.0	128.0					12																	13906548		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906548G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.713C>T	12.37:g.13906548G>A	ENSP00000477455:p.Thr238Ile						p.T238I	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			3	922	-			238					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.713C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042371	0.35989	.	.	ENSG00000150086	ENST00000279593	D	0.82893	-1.66	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.047359	0.85682	D	0.000000	T	0.74854	0.3771	N	0.13235	0.315	0.48975	D	0.999737	B	0.17667	0.023	B	0.24155	0.051	T	0.68078	-0.5504	10	0.41790	T	0.15	.	19.8863	0.96913	0.0:0.0:1.0:0.0	.	238	Q13224	NMDE2_HUMAN	I	238	ENSP00000279593:T238I	ENSP00000279593:T238I	T	-	2	0	GRIN2B	13797815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.358000	0.59442	2.706000	0.92434	0.561000	0.74099	ACC		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			4	106	0	0	0	1	0	4	106				
TAF15	8148	broad.mit.edu	37	17	34172001	34172001	+	Missense_Mutation	SNP	C	C	T	rs537726014|rs199597033	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34172001C>T	ENST00000592237.1	+	18	1641	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	TAF15_ENST00000311979.3_Silent_p.Y563Y|TAF15_ENST00000588240.1_Silent_p.Y566Y			Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGGGGCTACGGAGGAGACC	0.552			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								C|||	3	0.000599042	0.0	0.0014	5008	,	,		14753	0.002		0.0	False		,,,				2504	0.0					ENST00000592237.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1111-1113)aCg>aTg		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		C	,	1,4405		0,1,2202	81.0	97.0	92.0		1689,1698	-3.5	1.0	17		92	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TAF15	NM_003487.2,NM_139215.1	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	563/590,566/593	34172001	2,13004	2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34172001C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.1112C>T	17.37:g.34172001C>T	ENSP00000467528:p.Thr371Met					TAF15_ENST00000588240.1_Silent_p.Y566Y|TAF15_ENST00000311979.3_Silent_p.Y563Y	p.T371M			Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	18	1641	+		Ovarian(249;0.17)	0			Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000592237.1	37	c.1112C>T																																																																																					0.552	TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1	NM_139215		11	116	0	0	0	1	0	11	116				
BPI	671	broad.mit.edu	37	20	36962871	36962871	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36962871A>G	ENST00000262865.4	+	13	1413	c.1324A>G	c.(1324-1326)Att>Gtt	p.I442V	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	442					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CATTGTACCCATTCTTGTGCT	0.512																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(1324-1326)Att>Gtt		bactericidal/permeability-increasing protein							318.0	264.0	282.0					20																	36962871		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36962871A>G	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1324A>G	20.37:g.36962871A>G	ENSP00000262865:p.Ile442Val					BPI_ENST00000489102.1_3'UTR	p.I442V	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			13	1413	+		Myeloproliferative disorder(115;0.00878)	442					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.1324A>G	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	A	1.585	-0.530526	0.04112	.	.	ENSG00000101425	ENST00000262865	T	0.09073	3.02	3.57	-1.67	0.08238	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.673439	0.13325	N	0.396356	T	0.02230	0.0069	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43261	-0.9402	10	0.17369	T	0.5	0.1795	0.6536	0.00831	0.3716:0.1767:0.1077:0.3439	.	442	P17213	BPI_HUMAN	V	442	ENSP00000262865:I442V	ENSP00000262865:I442V	I	+	1	0	BPI	36396285	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.509000	0.06336	-0.349000	0.08274	0.533000	0.62120	ATT		0.512	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		81	128	0	0	0	1	0	81	128				
MDC1	9656	broad.mit.edu	37	6	30680174	30680174	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680174G>T	ENST00000376406.3	-	5	2192	c.1545C>A	c.(1543-1545)gcC>gcA	p.A515A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.A515A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	515	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTGTGGTGGAGGCTTGGCTTC	0.512								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1543-1545)gcC>gcA	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							113.0	117.0	116.0					6																	30680174		1510	2708	4218	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680174G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1545C>A	6.37:g.30680174G>T						MDC1_ENST00000376405.2_Silent_p.A515A|MDC1-AS1_ENST00000442150.1_RNA	p.A515A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	2192	-			515			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.1545C>A	CCDS34384.1																																																																																				0.512	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		46	64	1	0	2.13384e-23	1	2.82555e-23	46	64				
ACHE	43	broad.mit.edu	37	7	100491612	100491612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491612G>A	ENST00000412389.1	-	1	397	c.242C>T	c.(241-243)cCg>cTg	p.P81L	ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.P81L|ACHE_ENST00000241069.5_Missense_Mutation_p.P81L|ACHE_ENST00000302913.4_Missense_Mutation_p.P81L|ACHE_ENST00000411582.1_Missense_Mutation_p.P81L|ACHE_ENST00000428317.1_Missense_Mutation_p.P81L			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	81					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CTTGGGCTCCGGTGGCAGAAA	0.622																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(241-243)cCg>cTg		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						63.0	63.0	63.0					7																	100491612		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491612G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.242C>T	7.37:g.100491612G>A	ENSP00000394976:p.Pro81Leu					ACHE_ENST00000241069.5_Missense_Mutation_p.P81L|ACHE_ENST00000419336.2_Missense_Mutation_p.P81L|ACHE_ENST00000412389.1_Missense_Mutation_p.P81L|ACHE_ENST00000411582.1_Missense_Mutation_p.P81L|ACHE_ENST00000428317.1_Missense_Mutation_p.P81L	p.P81L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	380	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		81					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.242C>T	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.600648	0.87055	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;D	0.82433	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;-1.61	5.02	5.02	0.67125	Carboxylesterase, type B (1);	0.247381	0.41001	D	0.000970	D	0.94231	0.8148	H	0.97587	4.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.976;0.929;0.944;0.94	D	0.96131	0.9092	10	0.87932	D	0	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	81;81;81;81	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	L	81	ENSP00000403474:P81L;ENSP00000241069:P81L;ENSP00000414858:P81L;ENSP00000303211:P81L;ENSP00000394976:P81L;ENSP00000397143:P81L;ENSP00000399725:P81L;ENSP00000404865:P81L;ENSP00000396360:P81L	ENSP00000241069:P81L	P	-	2	0	ACHE	100329548	1.000000	0.71417	0.954000	0.39281	0.978000	0.69477	9.488000	0.97947	2.469000	0.83416	0.556000	0.70494	CCG		0.622	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		25	45	0	0	0	1	0	25	45				
PYGB	5834	broad.mit.edu	37	20	25259041	25259041	+	Silent	SNP	G	G	A	rs572592143		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25259041G>A	ENST00000216962.4	+	8	1052	c.942G>A	c.(940-942)tcG>tcA	p.S314S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	314					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCTTCAAGTCGTCCAAGTTCG	0.617													g|||	1	0.000199681	0.0	0.0	5008	,	,		18637	0.0		0.0	False		,,,				2504	0.001					ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(940-942)tcG>tcA		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						86.0	81.0	83.0					20																	25259041		2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25259041G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.942G>A	20.37:g.25259041G>A							p.S314S	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			8	1052	+			314					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.942G>A	CCDS13171.1																																																																																				0.617	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		5	48	0	0	0	1	0	5	48				
KAT6B	23522	broad.mit.edu	37	10	76790682	76790682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76790682G>A	ENST00000287239.4	+	18	6589	c.6100G>A	c.(6100-6102)Gcc>Acc	p.A2034T	KAT6B_ENST00000372725.1_Missense_Mutation_p.A1742T|KAT6B_ENST00000372714.1_Missense_Mutation_p.A1742T|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1851T|KAT6B_ENST00000372724.1_Missense_Mutation_p.A1742T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	2034	Interaction with RUNX1 and RUNX2.|Met-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCAGCCATATGCCCAGCAGCC	0.527																																						ENST00000287239.4																			0											c.(6100-6102)Gcc>Acc		K(lysine) acetyltransferase 6B							76.0	73.0	74.0					10																	76790682		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76790682G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.6100G>A	10.37:g.76790682G>A	ENSP00000287239:p.Ala2034Thr					KAT6B_ENST00000372724.1_Missense_Mutation_p.A1742T|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1851T|KAT6B_ENST00000372725.1_Missense_Mutation_p.A1742T|KAT6B_ENST00000372714.1_Missense_Mutation_p.A1742T	p.A2034T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	6589	+			2034			Interaction with RUNX1 and RUNX2.|Met-rich.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.6100G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055895	0.36277	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.68	5.68	0.88126	.	0.000000	0.47852	D	0.000206	T	0.71492	0.3346	N	0.03608	-0.345	0.40094	D	0.976293	D;B;B	0.71674	0.998;0.433;0.22	D;B;B	0.78314	0.991;0.068;0.082	T	0.70096	-0.4966	10	0.15066	T	0.55	-10.3282	13.0393	0.58889	0.0738:0.0:0.9262:0.0	.	1851;1742;2034	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	T	1742;1742;2034;1742;1851	ENSP00000361810:A1742T;ENSP00000361809:A1742T;ENSP00000287239:A2034T;ENSP00000361799:A1742T;ENSP00000361796:A1851T	ENSP00000287239:A2034T	A	+	1	0	KAT6B	76460688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.805000	0.62561	2.664000	0.90586	0.655000	0.94253	GCC		0.527	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		7	39	0	0	0	1	0	7	39				
HERPUD2	64224	broad.mit.edu	37	7	35673458	35673458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:35673458G>A	ENST00000396081.1	-	8	1867	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	HERPUD2_ENST00000311350.3_Missense_Mutation_p.R355C|HERPUD2_ENST00000426180.1_5'Flank	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	355					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCCATAAGACGCTCCTTTCAA	0.403																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(1063-1065)Cgt>Tgt		HERPUD family member 2							172.0	160.0	164.0					7																	35673458		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35673458G>A	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.1063C>T	7.37:g.35673458G>A	ENSP00000379390:p.Arg355Cys					HERPUD2_ENST00000311350.3_Missense_Mutation_p.R355C	p.R355C	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			8	1867	-			355					A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.1063C>T	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002472	0.93227	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.25912	1.77;1.77	5.62	5.62	0.85841	.	0.145944	0.64402	D	0.000005	T	0.39253	0.1071	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.56088	0.791	T	0.08046	-1.0741	10	0.59425	D	0.04	-12.1791	19.7161	0.96121	0.0:0.0:1.0:0.0	.	355	Q9BSE4	HERP2_HUMAN	C	355	ENSP00000379390:R355C;ENSP00000310729:R355C	ENSP00000310729:R355C	R	-	1	0	HERPUD2	35639983	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.427000	0.66483	2.656000	0.90262	0.551000	0.68910	CGT		0.403	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		5	150	0	0	0	1	0	5	150				
MRGPRX3	117195	broad.mit.edu	37	11	18159368	18159368	+	Missense_Mutation	SNP	C	C	T	rs541090110		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18159368C>T	ENST00000396275.2	+	3	980	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGTGGATCCCGGAAGATGCC	0.542													c|||	1	0.000199681	0.0	0.0	5008	,	,		19714	0.001		0.0	False		,,,				2504	0.0					ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(619-621)Cgg>Tgg		MAS-related GPR, member X3							110.0	104.0	106.0					11																	18159368		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159368C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.619C>T	11.37:g.18159368C>T	ENSP00000379571:p.Arg207Trp						p.R207W	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	980	+			207					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.619C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	6.432	0.447773	0.12223	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.46451	0.87;0.87	1.46	0.366	0.16136	GPCR, rhodopsin-like superfamily (1);	1.147420	0.06622	N	0.757664	T	0.35038	0.0918	L	0.53249	1.67	0.09310	N	1	B	0.28419	0.211	B	0.21546	0.035	T	0.28299	-1.0048	10	0.42905	T	0.14	.	5.4973	0.16809	0.5799:0.4201:0.0:0.0	.	207	Q96LB0	MRGX3_HUMAN	W	207	ENSP00000379571:R207W;ENSP00000436242:R207W	ENSP00000379571:R207W	R	+	1	2	MRGPRX3	18115944	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.465000	0.06680	0.112000	0.17975	0.430000	0.28490	CGG		0.542	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		5	69	0	0	0	1	0	5	69				
KCNQ3	3786	broad.mit.edu	37	8	133153429	133153429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133153429C>T	ENST00000388996.4	-	10	1832	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R471H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R351H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	471					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGTGCGGAAACGCTCTTTATT	0.453																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1411-1413)cGt>cAt		potassium voltage-gated channel, KQT-like subfamily, member 3							134.0	138.0	136.0					8																	133153429		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153429C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1412G>A	8.37:g.133153429C>T	ENSP00000373648:p.Arg471His					KCNQ3_ENST00000519445.1_Missense_Mutation_p.R471H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R351H	p.R471H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1832	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		471					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1412G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100814	0.94245	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99745	-6.61;-6.61;-6.61	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	M	0.66297	2.02	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98237	1.0486	10	0.87932	D	0	-8.1207	18.6978	0.91607	0.0:1.0:0.0:0.0	.	471;471	E7ET42;O43525	.;KCNQ3_HUMAN	H	471;351;471;460;350	ENSP00000373648:R471H;ENSP00000429799:R351H;ENSP00000428790:R471H	ENSP00000373648:R471H	R	-	2	0	KCNQ3	133222611	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.469000	0.80959	2.652000	0.90054	0.655000	0.94253	CGT		0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		6	80	0	0	0	1	0	6	80				
MAP7D3	79649	broad.mit.edu	37	X	135303001	135303001	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135303001T>C	ENST00000316077.9	-	16	2629	c.2409A>G	c.(2407-2409)aaA>aaG	p.K803K	MAP7D3_ENST00000370661.1_Silent_p.K768K|MAP7D3_ENST00000370663.5_Silent_p.K785K|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	803					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TAAAATATGTTTTTGGCTCTT	0.383																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(2407-2409)aaA>aaG		MAP7 domain containing 3							233.0	211.0	218.0					X																	135303001		1830	4078	5908	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135303001T>C	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2409A>G	X.37:g.135303001T>C						MAP7D3_ENST00000370663.5_Silent_p.K785K|MAP7D3_ENST00000370661.1_Silent_p.K768K	p.K803K	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			16	2629	-	Acute lymphoblastic leukemia(192;0.000127)		803					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.2409A>G	CCDS44004.1																																																																																				0.383	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			7	334	0	0	0	1	0	7	334				
MED29	55588	broad.mit.edu	37	19	39880742	39880742	+	5'Flank	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880742G>T	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.P36H|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.P36H|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.P46H			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GATGAACTTGGGGTCGAAGGG	0.537																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(136-138)cCc>cAc		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							174.0	169.0	171.0					19																	39880742		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880742G>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880742G>T	Exception_encountered					PAF1_ENST00000221266.7_Missense_Mutation_p.P36H|PAF1_ENST00000595564.1_Missense_Mutation_p.P36H	p.P46H	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		3	467	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		46					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.137C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.33|19.33	3.807814|3.807814	0.70797|0.70797	.|.	.|.	ENSG00000006712|ENSG00000006712	ENST00000221265;ENST00000221266|ENST00000416728	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.63908|0.63908	0.2551|0.2551	M|M	0.77616|0.77616	2.38|2.38	0.26829|0.26829	N|N	0.968629|0.968629	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.986;0.995|.	T|T	0.62048|0.62048	-0.6936|-0.6936	9|7	0.66056|0.72032	D|D	0.02|0.01	-16.6753|-16.6753	15.0781|15.0781	0.72093|0.72093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	36;46|.	F8W9Q2;Q8N7H5|.	.;PAF1_HUMAN|.	H|T	46;36|34	.|.	ENSP00000221265:P46H|ENSP00000396412:P34T	P|P	-|-	2|1	0|0	PAF1|PAF1	44572582|44572582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.606000|8.606000	0.90888|0.90888	2.937000|2.937000	0.99478|0.99478	0.651000|0.651000	0.88453|0.88453	CCC|CCA		0.537	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		10	99	1	0	0.00621372	1	0.00652201	10	99				
POLR1A	25885	broad.mit.edu	37	2	86315723	86315723	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86315723G>A	ENST00000263857.6	-	6	1074	c.696C>T	c.(694-696)caC>caT	p.H232H	POLR1A_ENST00000409681.1_Silent_p.H232H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	232					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCTGTCCTGTGCACCATGG	0.567																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(694-696)caC>caT		polymerase (RNA) I polypeptide A, 194kDa							118.0	113.0	115.0					2																	86315723		2047	4198	6245	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86315723G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.696C>T	2.37:g.86315723G>A						POLR1A_ENST00000409681.1_Silent_p.H232H	p.H232H			O95602	RPA1_HUMAN			6	1074	-			232					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.696C>T	CCDS42706.1																																																																																				0.567	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		7	49	0	0	0	1	0	7	49				
MCM7	4176	broad.mit.edu	37	7	99695277	99695277	+	Silent	SNP	G	G	A	rs146058965		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695277G>A	ENST00000303887.5	-	9	1722	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	MCM7_ENST00000354230.3_Silent_p.V183V|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	359	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.V359V(1)|p.V183V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACACCCCCGACTAGCAGGA	0.502																																						ENST00000303887.5																			2	Substitution - coding silent(2)	p.V359V(1)|p.V183V(1)	large_intestine(2)	endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1075-1077)gtC>gtT		minichromosome maintenance complex component 7	Atorvastatin(DB01076)	C	,	0,4406		0,0,2203	253.0	257.0	256.0		1077,549	3.1	1.0	7	dbSNP_134	256	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	MCM7	NM_005916.3,NM_182776.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	359/720,183/544	99695277	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99695277G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1077C>T	7.37:g.99695277G>A						MCM7_ENST00000354230.3_Silent_p.V183V|MCM7_ENST00000343023.6_Intron	p.V359V	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			9	1722	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		359			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.1077C>T	CCDS5683.1																																																																																				0.502	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			20	419	0	0	0	1	0	20	419				
RAPGEF4	11069	broad.mit.edu	37	2	173900869	173900869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173900869A>G	ENST00000397081.3	+	28	2860	c.2717A>G	c.(2716-2718)cAc>cGc	p.H906R	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H686R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H735R|RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.H905R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H762R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	906	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAAGGAACCACAGGGCCTAC	0.478																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2713-2715)cAc>cGc		Rap guanine nucleotide exchange factor (GEF) 4							132.0	131.0	131.0					2																	173900869		1941	4136	6077	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173900869A>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2717A>G	2.37:g.173900869A>G	ENSP00000380271:p.His906Arg					RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H906R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H762R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H686R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H735R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H753R	p.H905R			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		28	2901	+			906			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2714A>G	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451236	0.84209	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.48	5.48	0.80851	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.75306	-0.3364	10	0.87932	D	0	.	15.8539	0.78960	1.0:0.0:0.0:0.0	.	762;906	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	905;906;762;735;753;753;686;137	ENSP00000264111:H905R;ENSP00000380271:H906R;ENSP00000380276:H762R;ENSP00000440135:H735R;ENSP00000440250:H753R;ENSP00000437384:H753R;ENSP00000438011:H686R;ENSP00000380274:H137R	ENSP00000264111:H905R	H	+	2	0	RAPGEF4	173609115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.199000	0.70637	0.533000	0.62120	CAC		0.478	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		5	69	0	0	0	1	0	5	69				
KRT86	3892	broad.mit.edu	37	12	52699090	52699090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52699090G>A	ENST00000423955.2	+	7	980	c.802G>A	c.(802-804)Gac>Aac	p.D268N	KRT86_ENST00000293525.5_Missense_Mutation_p.D268N|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000544024.1_Missense_Mutation_p.D268N			O43790	KRT86_HUMAN	keratin 86	268	Linker 12.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACAGCCGGGACCTGAACAT	0.572																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(802-804)Gac>Aac		keratin 86							159.0	133.0	142.0					12																	52699090		2203	4298	6501	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699090G>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.802G>A	12.37:g.52699090G>A	ENSP00000444533:p.Asp268Asn					KRT86_ENST00000423955.2_Missense_Mutation_p.D268N|KRT86_ENST00000544024.1_Missense_Mutation_p.D268N	p.D268N	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	854	+			268			Linker 12.|Rod.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.802G>A	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766171	0.31228	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.88277	-2.36;-2.36;-2.36	4.51	4.51	0.55191	Filament (1);	0.338496	0.20843	U	0.084666	T	0.79076	0.4385	N	0.25789	0.76	0.29994	N	0.816624	B	0.18461	0.028	B	0.21546	0.035	T	0.65512	-0.6150	10	0.07325	T	0.83	.	9.6401	0.39833	0.1075:0.0:0.8925:0.0	.	268	O43790	KRT86_HUMAN	N	268	ENSP00000443169:D268N;ENSP00000444533:D268N;ENSP00000293525:D268N	ENSP00000293525:D268N	D	+	1	0	AC021066.1;KRT86	50985357	0.046000	0.20272	1.000000	0.80357	0.991000	0.79684	2.018000	0.40991	2.086000	0.62901	0.499000	0.49734	GAC		0.572	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		23	34	0	0	0	1	0	23	34				
PCDHGA1	56114	broad.mit.edu	37	5	140711783	140711783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711783C>T	ENST00000517417.1	+	1	1532	c.1532C>T	c.(1531-1533)aCt>aTt	p.T511I	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T511I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCGACACTGGGGTCCTG	0.557																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1531-1533)aCt>aTt									134.0	146.0	142.0					5																	140711783		2203	4300	6503	SO:0001583	missense	0							g.chr5:140711783C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1532C>T	5.37:g.140711783C>T	ENSP00000431083:p.Thr511Ile					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T511I	p.T511I	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1532	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1532C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527720	0.27299	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.58060	0.36;0.36	3.82	1.92	0.25849	Cadherin (5);Cadherin-like (1);	0.276095	0.25394	N	0.030990	T	0.79381	0.4436	H	0.97983	4.12	0.24966	N	0.991697	D;D	0.71674	0.997;0.998	D;D	0.78314	0.985;0.991	T	0.70791	-0.4776	10	0.87932	D	0	.	8.7974	0.34887	0.0:0.7626:0.1504:0.087	.	511;511	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	511	ENSP00000431083:T511I;ENSP00000367345:T511I	ENSP00000367345:T511I	T	+	2	0	PCDHGA1	140691967	0.000000	0.05858	0.811000	0.32455	0.310000	0.27922	-0.555000	0.05999	0.348000	0.23949	0.557000	0.71058	ACT		0.557	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		53	103	0	0	0	1	0	53	103				
HERC3	8916	broad.mit.edu	37	4	89599166	89599166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89599166G>A	ENST00000402738.1	+	19	2316	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	HERC3_ENST00000543130.1_Missense_Mutation_p.E137K|HERC3_ENST00000264345.3_Missense_Mutation_p.E693K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	693					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTCACCCTGGAGCCTCTGCT	0.512																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(2077-2079)Gag>Aag		HECT and RLD domain containing E3 ubiquitin protein ligase 3							103.0	100.0	101.0					4																	89599166		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89599166G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2077G>A	4.37:g.89599166G>A	ENSP00000385684:p.Glu693Lys					HERC3_ENST00000543130.1_Missense_Mutation_p.E137K|HERC3_ENST00000264345.3_Missense_Mutation_p.E693K	p.E693K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	19	2316	+			693					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.2077G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.924081	0.52653	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.35	5.35	0.76521	HECT (1);	0.052338	0.85682	D	0.000000	T	0.22360	0.0539	N	0.08118	0	0.80722	D	1	P	0.38922	0.651	B	0.33521	0.165	T	0.10776	-1.0615	10	0.07325	T	0.83	.	19.2719	0.94013	0.0:0.0:1.0:0.0	.	693	Q15034	HERC3_HUMAN	K	693;693;137;86	ENSP00000385684:E693K;ENSP00000264345:E693K;ENSP00000441703:E137K;ENSP00000421021:E86K	ENSP00000264345:E693K	E	+	1	0	HERC3	89818189	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.788000	0.95919	0.555000	0.69702	GAG		0.512	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		22	33	0	0	0	1	0	22	33				
ADAM18	8749	broad.mit.edu	37	8	39550197	39550197	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550197G>T	ENST00000265707.5	+	17	1945	c.1900G>T	c.(1900-1902)Ggg>Tgg	p.G634W	ADAM18_ENST00000379866.1_Missense_Mutation_p.G610W|ADAM18_ENST00000541111.1_Missense_Mutation_p.G48W|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	634	EGF-like.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAAAGGGAAAGGGGTAAGTCA	0.338																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1900-1902)Ggg>Tgg		ADAM metallopeptidase domain 18							94.0	97.0	96.0					8																	39550197		2203	4299	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39550197G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1900G>T	8.37:g.39550197G>T	ENSP00000265707:p.Gly634Trp					ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G610W|ADAM18_ENST00000541111.1_Missense_Mutation_p.G48W	p.G634W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		17	1945	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	634			EGF-like.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1900G>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793298	0.50102	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.97279	-4.32;-4.32;-4.32	3.95	3.95	0.45737	.	0.000000	0.40385	N	0.001112	D	0.98732	0.9574	H	0.95679	3.705	0.36353	D	0.860214	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99935	1.1356	10	0.87932	D	0	.	11.8017	0.52130	0.0:0.0:1.0:0.0	.	610;634	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	W	634;610;48	ENSP00000265707:G634W;ENSP00000369195:G610W;ENSP00000444729:G48W	ENSP00000265707:G634W	G	+	1	0	ADAM18	39669354	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	2.234000	0.43035	2.500000	0.84329	0.557000	0.71058	GGG		0.338	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		5	48	1	0	3.59834e-05	1	4.01776e-05	5	48				
TRMT12	55039	broad.mit.edu	37	8	125464168	125464168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125464168C>T	ENST00000328599.3	+	1	1121	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	334					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGCATTTTGCATATCCACCA	0.478																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1000-1002)Cat>Tat		tRNA methyltransferase 12 homolog (S. cerevisiae)							73.0	73.0	73.0					8																	125464168		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125464168C>T	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.1000C>T	8.37:g.125464168C>T	ENSP00000329858:p.His334Tyr					TRMT12_ENST00000521443.1_Intron	p.H334Y	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	1121	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		334					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.1000C>T	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087858	0.76642	.	.	ENSG00000183665	ENST00000328599	T	0.20881	2.04	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67707	-0.5601	10	0.87932	D	0	-16.8822	17.076	0.86586	0.0:1.0:0.0:0.0	.	334	Q53H54	TYW2_HUMAN	Y	334	ENSP00000329858:H334Y	ENSP00000329858:H334Y	H	+	1	0	TRMT12	125533349	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.002000	0.76304	2.712000	0.92718	0.561000	0.74099	CAT		0.478	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		19	39	0	0	0	1	0	19	39				
NEK8	284086	broad.mit.edu	37	17	27068168	27068168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27068168G>A	ENST00000268766.6	+	13	1839	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000444415.3_5'Flank|TRAF4_ENST00000262395.5_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	602					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CGAGGCAGTCGGGCACCCTGT	0.577																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1804-1806)cGg>cAg		NIMA-related kinase 8							83.0	71.0	75.0					17																	27068168		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068168G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1805G>A	17.37:g.27068168G>A	ENSP00000268766:p.Arg602Gln					AC010761.6_ENST00000584779.1_RNA	p.R602Q	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			13	1839	+	Lung NSC(42;0.0158)		602					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1805G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617117	0.87359	.	.	ENSG00000160602	ENST00000268766	D	0.84944	-1.92	5.52	5.52	0.82312	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.90453	0.4440	10	0.46703	T	0.11	.	18.4336	0.90636	0.0:0.0:1.0:0.0	.	602	Q86SG6	NEK8_HUMAN	Q	602	ENSP00000268766:R602Q	ENSP00000268766:R602Q	R	+	2	0	NEK8	24092295	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.847000	0.99503	2.586000	0.87340	0.655000	0.94253	CGG		0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			16	42	0	0	0	1	0	16	42				
PKD2L1	9033	broad.mit.edu	37	10	102054794	102054794	+	Silent	SNP	G	G	A	rs570541159		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102054794G>A	ENST00000318222.3	-	8	1825	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	PKD2L1_ENST00000338519.3_Silent_p.A406A|PKD2L1_ENST00000353274.3_Silent_p.A481A	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	481					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.A481A(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGAACATGACGGCGAAGCCCA	0.507																																						ENST00000318222.3																			1	Substitution - coding silent(1)	p.A481A(1)	lung(1)	NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1441-1443)gcC>gcT		polycystic kidney disease 2-like 1							144.0	135.0	138.0					10																	102054794		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054794G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1443C>T	10.37:g.102054794G>A						PKD2L1_ENST00000338519.3_Silent_p.A406A|PKD2L1_ENST00000353274.3_Silent_p.A481A	p.A481A	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	8	1825	-		Colorectal(252;0.117)	481					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1443C>T	CCDS7492.1																																																																																				0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		35	50	0	0	0	1	0	35	50				
CPEB1	64506	broad.mit.edu	37	15	83296072	83296072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296072G>A	ENST00000562019.1	-	2	378	c.62C>T	c.(61-63)gCa>gTa	p.A21V	CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000563800.1_Missense_Mutation_p.A48V|CPEB1_ENST00000568128.1_Missense_Mutation_p.A21V|CPEB1_ENST00000568757.1_5'UTR			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	21					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGCAGGTGCTTCCTGGTT	0.403																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(142-144)gCa>gTa		cytoplasmic polyadenylation element binding protein 1							94.0	92.0	93.0					15																	83296072		1888	4118	6006	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83296072G>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.62C>T	15.37:g.83296072G>A	ENSP00000457836:p.Ala21Val					CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000562019.1_Missense_Mutation_p.A21V|CPEB1_ENST00000568128.1_Missense_Mutation_p.A21V	p.A48V			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		2	1868	-			21					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.143C>T		.	.	.	.	.	.	.	.	.	.	G	10.34	1.324512	0.24080	.	.	ENSG00000214575	ENST00000450751;ENST00000398593	.	.	.	5.77	3.26	0.37387	.	0.349128	0.26334	N	0.024979	T	0.34250	0.0891	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.06770	-1.0808	9	0.10902	T	0.67	-0.2195	9.2536	0.37571	0.2749:0.0:0.7251:0.0	.	21;21;21	Q9BZB8-3;Q9BZB8;E7ET70	.;CPEB1_HUMAN;.	V	21	.	ENSP00000381593:A21V	A	-	2	0	CPEB1	81093127	0.997000	0.39634	0.814000	0.32528	0.669000	0.39330	2.778000	0.47726	0.457000	0.26962	-0.142000	0.14014	GCA		0.403	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		13	28	0	0	0	1	0	13	28				
RERE	473	broad.mit.edu	37	1	8617555	8617555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617555C>T	ENST00000337907.3	-	6	1184	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	RERE_ENST00000400907.2_Missense_Mutation_p.V184I|RERE_ENST00000400908.2_Missense_Mutation_p.V184I	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	184	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TACCATTTGACGTTCATGAGG	0.418																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(550-552)Gtc>Atc		arginine-glutamic acid dipeptide (RE) repeats							124.0	103.0	110.0					1																	8617555		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8617555C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.550G>A	1.37:g.8617555C>T	ENSP00000338629:p.Val184Ile					RERE_ENST00000400907.2_Missense_Mutation_p.V184I|RERE_ENST00000400908.2_Missense_Mutation_p.V184I	p.V184I	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	6	1184	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	184			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.550G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854544	0.91355	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	D;D;D	0.85861	-2.04;-2.04;-2.04	6.03	5.1	0.69264	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.84588	0.5505	L	0.41079	1.255	0.48511	D	0.99966	D	0.56521	0.976	P	0.50440	0.641	D	0.85189	0.1008	9	0.49607	T	0.09	-22.9575	15.185	0.72993	0.1421:0.8579:0.0:0.0	.	184	Q9P2R6	RERE_HUMAN	I	184	ENSP00000338629:V184I;ENSP00000383699:V184I;ENSP00000383700:V184I	ENSP00000338629:V184I	V	-	1	0	RERE	8540142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.672000	0.83956	1.514000	0.48869	0.655000	0.94253	GTC		0.418	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			19	32	0	0	0	1	0	19	32				
ITGB1BP1	9270	broad.mit.edu	37	2	9558819	9558819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9558819C>T	ENST00000360635.3	-	3	904	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.R3H			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	3					activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTGCCCTTGCGAAACATTTT	0.373																																						ENST00000360635.3																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(7-9)cGc>cAc		integrin beta 1 binding protein 1							277.0	269.0	272.0					2																	9558819		2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9558819C>T	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.8G>A	2.37:g.9558819C>T	ENSP00000353850:p.Arg3His					ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000490426.1_Intron	p.R3H			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	3	904	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		3					D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.8G>A	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310195	0.81358	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001;ENST00000497105	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.984;0.991	T	0.70230	-0.4929	9	0.87932	D	0	-20.1291	18.4694	0.90767	0.0:1.0:0.0:0.0	.	3;3;3	A8MPU2;O14713-2;O14713	.;.;ITBP1_HUMAN	H	3	.	ENSP00000238091:R3H	R	-	2	0	ITGB1BP1	9476270	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.915000	0.75770	2.600000	0.87896	0.655000	0.94253	CGC		0.373	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		82	159	0	0	0	1	0	82	159				
ARHGEF7	8874	broad.mit.edu	37	13	111932994	111932994	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111932994C>A	ENST00000375741.2	+	16	2008	c.1758C>A	c.(1756-1758)acC>acA	p.T586T	ARHGEF7_ENST00000426073.2_Silent_p.T408T|ARHGEF7_ENST00000375737.5_Silent_p.T483T|ARHGEF7_ENST00000218789.5_Silent_p.T408T|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375736.4_Silent_p.T408T|ARHGEF7_ENST00000375739.2_Silent_p.T536T|ARHGEF7_ENST00000317133.5_Silent_p.T565T|ARHGEF7_ENST00000370623.3_Silent_p.T493T|ARHGEF7_ENST00000478679.1_Silent_p.T330T|ARHGEF7_ENST00000375723.1_Silent_p.T408T	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	586					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAACCCCACCATAAAGCCTC	0.537																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(1756-1758)acC>acA		Rho guanine nucleotide exchange factor (GEF) 7							210.0	158.0	175.0					13																	111932994		2203	4300	6503	SO:0001819	synonymous_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111932994C>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1758C>A	13.37:g.111932994C>A						ARHGEF7_ENST00000426073.2_Silent_p.T408T|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375723.1_Silent_p.T408T|ARHGEF7_ENST00000370623.3_Silent_p.T493T|ARHGEF7_ENST00000317133.5_Silent_p.T565T|ARHGEF7_ENST00000375737.5_Silent_p.T483T|ARHGEF7_ENST00000218789.5_Silent_p.T408T|ARHGEF7_ENST00000478679.1_Silent_p.T330T|ARHGEF7_ENST00000375736.4_Silent_p.T408T|ARHGEF7_ENST00000375739.2_Silent_p.T536T	p.T586T	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		16	2008	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		586					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	c.1758C>A	CCDS45068.1																																																																																				0.537	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		4	68	1	0	0.00909568	1	0.00947522	4	68				
FAT4	79633	broad.mit.edu	37	4	126242732	126242732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126242732G>T	ENST00000394329.3	+	1	5179	c.5166G>T	c.(5164-5166)caG>caT	p.Q1722H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1722	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAACACAGAGAGCAGAGG	0.358																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5164-5166)caG>caT		FAT atypical cadherin 4							50.0	48.0	48.0					4																	126242732		1849	4097	5946	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242732G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5166G>T	4.37:g.126242732G>T	ENSP00000377862:p.Gln1722His						p.Q1722H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	5179	+			1722			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5166G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231082	0.58777	.	.	ENSG00000196159	ENST00000394329	T	0.38077	1.16	5.27	4.23	0.50019	Cadherin (3);Cadherin-like (1);	0.000000	0.32819	U	0.005604	T	0.45895	0.1365	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.42207	-0.9465	10	0.59425	D	0.04	.	12.577	0.56369	0.1294:0.0:0.8706:0.0	.	1722	Q6V0I7	FAT4_HUMAN	H	1722	ENSP00000377862:Q1722H	ENSP00000377862:Q1722H	Q	+	3	2	FAT4	126462182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.383000	0.44354	2.466000	0.83321	0.655000	0.94253	CAG		0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	60	1	0	0.00116845	1	0.00124821	5	60				
DDC	1644	broad.mit.edu	37	7	50530956	50530956	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530956G>A	ENST00000444124.2	-	14	1616	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	DDC_ENST00000426377.1_Silent_p.A394A|DDC_ENST00000431062.1_Silent_p.A379A|DDC_ENST00000357936.5_Silent_p.A472A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	472					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGCACGTCGGCCGCCAGCT	0.597																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(1414-1416)gcC>gcT		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						61.0	51.0	55.0					7																	50530956		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50530956G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1416C>T	7.37:g.50530956G>A						DDC_ENST00000426377.1_Silent_p.A394A|DDC_ENST00000431062.1_Silent_p.A379A|DDC_ENST00000357936.5_Silent_p.A472A	p.A472A	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			14	1616	-	Glioma(55;0.08)|all_neural(89;0.245)		472					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.1416C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	5.071	0.198797	0.09652	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.44	-4.36	0.03645	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27191	-1.0081	4	.	.	.	-0.5923	0.9708	0.01415	0.4053:0.1867:0.2232:0.1848	.	.	.	.	L	353	.	.	P	-	2	0	DDC	50498450	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.324000	0.02690	-0.493000	0.06678	-0.176000	0.13171	CCG		0.597	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			4	16	0	0	0	1	0	4	16				
GALNTL6	442117	broad.mit.edu	37	4	173269674	173269674	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:173269674C>T	ENST00000506823.1	+	5	1044	c.387C>T	c.(385-387)aaC>aaT	p.N129N	GALNTL6_ENST00000508122.1_Splice_Site_p.N112N|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	129					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCATCTCCAGCTGTAAGCATA	0.383																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.e5-1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							120.0	113.0	115.0					4																	173269674		2203	4300	6503	SO:0001630	splice_region_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173269674C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.387-1C>T	4.37:g.173269674C>T						GALNTL6_ENST00000508122.1_Splice_Site_p.N112_splice|GALNTL6_ENST00000457021.1_3'UTR	p.N129_splice	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			5	1044	+			129					Q2L4S6	Splice_Site	SNP	ENST00000506823.1	37	c.386_splice	CCDS34104.1																																																																																				0.383	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	Silent	5	118	0	0	0	1	0	5	118				
CKM	1158	broad.mit.edu	37	19	45811737	45811737	+	Missense_Mutation	SNP	C	C	T	rs367853842		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45811737C>T	ENST00000221476.3	-	6	881	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	236	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGAGATGACCCGGAGGTGATC	0.587																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(706-708)cGg>cAg		creatine kinase, muscle	Creatine(DB00148)	C	GLN/ARG	0,4406		0,0,2203	121.0	101.0	107.0		707	5.5	1.0	19		107	2,8598	2.2+/-6.3	0,2,4298	no	missense	CKM	NM_001824.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	236/382	45811737	2,13004	2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45811737C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.707G>A	19.37:g.45811737C>T	ENSP00000221476:p.Arg236Gln						p.R236Q	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	6	881	-		Ovarian(192;0.0336)|all_neural(266;0.112)	236			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.707G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	37	6.338158	0.97485	0.0	2.33E-4	ENSG00000104879	ENST00000221476	T	0.21031	2.03	5.5	5.5	0.81552	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	H	0.96333	3.805	0.80722	D	1	D	0.61697	0.99	P	0.55785	0.784	T	0.71220	-0.4657	10	0.87932	D	0	-18.0967	16.8863	0.86077	0.0:1.0:0.0:0.0	.	236	P06732	KCRM_HUMAN	Q	236	ENSP00000221476:R236Q	ENSP00000221476:R236Q	R	-	2	0	CKM	50503577	0.992000	0.36948	0.999000	0.59377	0.994000	0.84299	7.452000	0.80683	2.605000	0.88082	0.555000	0.69702	CGG		0.587	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			22	35	0	0	0	1	0	22	35				
MX1	4599	broad.mit.edu	37	21	42821137	42821137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42821137G>A	ENST00000398600.2	+	16	2372	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	MX1_ENST00000398598.3_Silent_p.V449V|MX1_ENST00000288383.6_Silent_p.V426V|MX1_ENST00000455164.2_Silent_p.V449V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	449	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGGCTTTGTGAATTACAGGA	0.423																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1345-1347)gtG>gtA		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							93.0	103.0	100.0					21																	42821137		2203	4300	6503	SO:0001819	synonymous_variant	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42821137G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1347G>A	21.37:g.42821137G>A						MX1_ENST00000455164.2_Silent_p.V449V|MX1_ENST00000288383.6_Silent_p.V426V|MX1_ENST00000398598.3_Silent_p.V449V	p.V449V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			16	2372	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	449					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP	ENST00000398600.2	37	c.1347G>A	CCDS13673.1																																																																																				0.423	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			8	92	0	0	0	1	0	8	92				
NLRP10	338322	broad.mit.edu	37	11	7982200	7982200	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7982200C>A	ENST00000328600.2	-	2	1120	c.959G>T	c.(958-960)aGg>aTg	p.R320M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	320	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)	p.R320M(1)		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)		GTACCTCGCCCTCTCCTCCTC	0.512																																						ENST00000328600.2																			1	Substitution - Missense(1)	p.R320M(1)	large_intestine(1)	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.(958-960)aGg>aTg		NLR family, pyrin domain containing 10							112.0	109.0	110.0					11																	7982200		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982200C>A	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.959G>T	11.37:g.7982200C>A	ENSP00000327763:p.Arg320Met						p.R320M	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1120	-			320			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.959G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697061	0.30142	.	.	ENSG00000182261	ENST00000328600	D	0.81739	-1.53	5.21	2.28	0.28536	NACHT nucleoside triphosphatase (1);	0.000000	0.45126	D	0.000385	D	0.86343	0.5910	M	0.72894	2.215	0.28030	N	0.934177	D	0.89917	1.0	D	0.91635	0.999	T	0.78201	-0.2296	10	0.87932	D	0	.	8.1074	0.30894	0.0:0.7275:0.0:0.2725	.	320	Q86W26	NAL10_HUMAN	M	320	ENSP00000327763:R320M	ENSP00000327763:R320M	R	-	2	0	NLRP10	7938776	0.020000	0.18652	0.259000	0.24435	0.005000	0.04900	0.511000	0.22739	0.726000	0.32339	0.650000	0.86243	AGG		0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		16	103	1	0	1.3612e-06	1	1.57881e-06	16	103				
FAM160B1	57700	broad.mit.edu	37	10	116596000	116596000	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116596000C>A	ENST00000369248.4	+	5	852	c.517C>A	c.(517-519)Cta>Ata	p.L173I	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L173I	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	173										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAACTTTTTCCTAGAGGTATG	0.343																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(517-519)Cta>Ata		family with sequence similarity 160, member B1							163.0	175.0	171.0					10																	116596000		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116596000C>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.517C>A	10.37:g.116596000C>A	ENSP00000358251:p.Leu173Ile					FAM160B1_ENST00000369250.3_Missense_Mutation_p.L173I	p.L173I	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			5	852	+			173					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.517C>A	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302247	0.81136	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.37411	1.2;1.2	5.57	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.55213	1.73	0.80722	D	1	P;D	0.53619	0.802;0.961	P;P	0.54965	0.607;0.765	T	0.40831	-0.9542	10	0.38643	T	0.18	-12.1592	14.3594	0.66761	0.0:0.9287:0.0:0.0713	.	173;173	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	I	173	ENSP00000358251:L173I;ENSP00000358253:L173I	ENSP00000358251:L173I	L	+	1	2	FAM160B1	116585990	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.213000	0.51153	1.348000	0.45733	0.585000	0.79938	CTA		0.343	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		21	215	1	0	4.26978e-12	1	5.35206e-12	21	215				
PUS7L	83448	broad.mit.edu	37	12	44148951	44148951	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44148951T>C	ENST00000416848.2	-	2	586	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PUS7L_ENST00000553166.1_Missense_Mutation_p.D33G|PUS7L_ENST00000551923.1_Missense_Mutation_p.D33G|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.D33G	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	33					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AACAATAAAGTCACTTGGTGA	0.323																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(97-99)gAc>gGc		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							68.0	69.0	68.0					12																	44148951		2202	4297	6499	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148951T>C	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.98A>G	12.37:g.44148951T>C	ENSP00000415899:p.Asp33Gly					PUS7L_ENST00000344862.5_Missense_Mutation_p.D33G|PUS7L_ENST00000551923.1_Missense_Mutation_p.D33G|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.D33G	p.D33G	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	586	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	33					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.98A>G	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.553689	0.86231	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166;ENST00000549868	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.94	4.94	0.65067	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70263	-0.4920	10	0.87932	D	0	-21.5505	14.2655	0.66116	0.0:0.0:0.0:1.0	.	33	Q9H0K6	PUS7L_HUMAN	G	33	ENSP00000415899:D33G;ENSP00000343081:D33G;ENSP00000447706:D33G;ENSP00000446865:D33G;ENSP00000449502:D33G	ENSP00000343081:D33G	D	-	2	0	PUS7L	42435218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.794000	0.75135	2.162000	0.67917	0.402000	0.26972	GAC		0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		26	35	0	0	0	1	0	26	35				
PER2	8864	broad.mit.edu	37	2	239161906	239161906	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239161906G>T	ENST00000254657.3	-	19	3037	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	920	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCTGGGGCAGGTTTGGGGTC	0.627																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2758-2760)Ctg>Atg		period circadian clock 2							41.0	48.0	45.0					2																	239161906		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161906G>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2758C>A	2.37:g.239161906G>T	ENSP00000254657:p.Leu920Met					AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.L920M	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3037	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	920			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2758C>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	7.701	0.693054	0.15039	.	.	ENSG00000132326	ENST00000254657	T	0.12147	2.71	3.89	2.04	0.26737	.	1.137890	0.07155	U	0.849701	T	0.25865	0.0630	L	0.41710	1.295	0.23198	N	0.998139	D;D	0.71674	0.971;0.998	P;D	0.83275	0.707;0.996	T	0.26780	-1.0093	10	0.30854	T	0.27	-9.6604	7.4737	0.27363	0.2224:0.0:0.7776:0.0	.	920;920	B4DH14;O15055	.;PER2_HUMAN	M	920	ENSP00000254657:L920M	ENSP00000254657:L920M	L	-	1	2	PER2	238826645	0.001000	0.12720	0.791000	0.31998	0.123000	0.20343	0.763000	0.26517	0.927000	0.37143	0.549000	0.68633	CTG		0.627	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		8	59	1	0	2.17888e-05	1	2.45068e-05	8	59				
CDHR2	54825	broad.mit.edu	37	5	176011502	176011502	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011502C>A	ENST00000510636.1	+	19	2494	c.2220C>A	c.(2218-2220)aaC>aaA	p.N740K	CDHR2_ENST00000261944.5_Missense_Mutation_p.N740K|CDHR2_ENST00000506348.1_Missense_Mutation_p.N740K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	740	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTGCCAACTACTTCATGA	0.642																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2218-2220)aaC>aaA		cadherin-related family member 2							106.0	104.0	105.0					5																	176011502		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011502C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2220C>A	5.37:g.176011502C>A	ENSP00000424565:p.Asn740Lys					CDHR2_ENST00000506348.1_Missense_Mutation_p.N740K|CDHR2_ENST00000261944.5_Missense_Mutation_p.N740K	p.N740K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2494	+			740			Cadherin 7.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2220C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981457	0.34942	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.52526	0.66;0.66;0.66	5.12	2.92	0.33932	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59004	0.2162	M	0.77820	2.39	0.34923	D	0.748588	D	0.63046	0.992	P	0.58013	0.831	T	0.68142	-0.5487	9	0.51188	T	0.08	-35.499	6.4832	0.22075	0.0:0.6494:0.1459:0.2047	.	740	Q9BYE9	CDHR2_HUMAN	K	740	ENSP00000424565:N740K;ENSP00000261944:N740K;ENSP00000421078:N740K	ENSP00000261944:N740K	N	+	3	2	CDHR2	175944108	1.000000	0.71417	0.998000	0.56505	0.080000	0.17528	0.674000	0.25218	1.284000	0.44531	0.549000	0.68633	AAC		0.642	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		36	68	1	0	5.59293e-11	1	6.93756e-11	36	68				
DDAH1	23576	broad.mit.edu	37	1	85816136	85816136	+	Missense_Mutation	SNP	C	C	T	rs147415500	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85816136C>T	ENST00000284031.8	-	4	653	c.559G>A	c.(559-561)Gca>Aca	p.A187T	DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.A94T|DDAH1_ENST00000542148.1_Missense_Mutation_p.A87T|DDAH1_ENST00000539042.1_Missense_Mutation_p.A187T|DDAH1_ENST00000535924.2_Missense_Mutation_p.A84T	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	187					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GACCCAATTGCGATCAGGTTA	0.483													C|||	8	0.00159744	0.0061	0.0	5008	,	,		18580	0.0		0.0	False		,,,				2504	0.0					ENST00000284031.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5						c.(559-561)Gca>Aca		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)	C	THR/ALA,THR/ALA	11,4395	17.9+/-39.9	0,11,2192	156.0	146.0	150.0		250,559	4.7	0.7	1	dbSNP_134	150	0,8600		0,0,4300	yes	missense,missense	DDAH1	NM_001134445.1,NM_012137.3	58,58	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	probably-damaging,probably-damaging	84/183,187/286	85816136	11,12995	2203	4300	6503	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85816136C>T	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.559G>A	1.37:g.85816136C>T	ENSP00000284031:p.Ala187Thr					DDAH1_ENST00000535924.2_Missense_Mutation_p.A84T|DDAH1_ENST00000426972.3_Missense_Mutation_p.A94T|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.A87T|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.A187T	p.A187T	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	4	653	-			187					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.559G>A	CCDS705.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	28.0	4.885971	0.91814	0.002497	0.0	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.65	4.74	0.60224	.	0.157774	0.56097	D	0.000026	T	0.70325	0.3211	M	0.84326	2.69	0.58432	D	0.999998	D;D	0.69078	0.997;0.987	P;P	0.58620	0.842;0.547	T	0.76547	-0.2919	9	0.62326	D	0.03	-12.0487	13.607	0.62052	0.0:0.9244:0.0:0.0756	.	87;187	B4DYP1;O94760	.;DDAH1_HUMAN	T	187;187;84;94;87	.	ENSP00000284031:A187T	A	-	1	0	DDAH1	85588724	1.000000	0.71417	0.745000	0.31077	0.989000	0.77384	4.280000	0.58959	1.533000	0.49186	0.650000	0.86243	GCA		0.483	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			53	156	0	0	0	1	0	53	156				
MYL1	4632	broad.mit.edu	37	2	211159037	211159037	+	Missense_Mutation	SNP	C	C	T	rs139030210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211159037C>T	ENST00000352451.3	-	4	557	c.410G>A	c.(409-411)cGt>cAt	p.R137H	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.R93H	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	137	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTCAAAGACACGCAGACCCTC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18953	0.0		0.0	False		,,,				2504	0.0					ENST00000352451.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(409-411)cGt>cAt		myosin, light chain 1, alkali; skeletal, fast		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	158.0	130.0	139.0		410,278	5.8	1.0	2	dbSNP_134	139	0,8600		0,0,4300	no	missense,missense	MYL1	NM_079420.2,NM_079422.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	137/195,93/151	211159037	1,13005	2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211159037C>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.410G>A	2.37:g.211159037C>T	ENSP00000307280:p.Arg137His					MYL1_ENST00000341685.4_Missense_Mutation_p.R93H|MYL1_ENST00000496436.1_5'UTR	p.R137H	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	4	557	-			137			EF-hand 2.		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.410G>A	CCDS2390.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	28.4	4.914047	0.92178	2.27E-4	0.0	ENSG00000168530	ENST00000341685;ENST00000352451	D;D	0.86164	-2.08;-2.08	5.77	5.77	0.91146	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	M	0.92507	3.315	0.80722	D	1	P;B	0.38978	0.652;0.115	B;B	0.28553	0.091;0.039	D	0.91280	0.5051	10	0.66056	D	0.02	.	20.0638	0.97700	0.0:1.0:0.0:0.0	.	137;93	P05976;P05976-2	MYL1_HUMAN;.	H	93;137	ENSP00000343321:R93H;ENSP00000307280:R137H	ENSP00000343321:R93H	R	-	2	0	MYL1	210867282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.752000	0.94435	0.650000	0.86243	CGT		0.463	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		24	36	0	0	0	1	0	24	36				
PFAS	5198	broad.mit.edu	37	17	8169287	8169287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8169287C>T	ENST00000314666.6	+	21	2786	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	PFAS_ENST00000545834.1_Missense_Mutation_p.P461S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	885					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCTGGACCTTCCTGAGAACTT	0.642																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2653-2655)Cct>Tct		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						48.0	47.0	47.0					17																	8169287		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8169287C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2653C>T	17.37:g.8169287C>T	ENSP00000313490:p.Pro885Ser					PFAS_ENST00000545834.1_Missense_Mutation_p.P461S	p.P885S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			21	2786	+			885					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2653C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	2.136	-0.398006	0.04865	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.35236	1.32;1.32	5.92	5.92	0.95590	AIR synthase-related protein, C-terminal (2);	0.055560	0.64402	D	0.000001	T	0.42787	0.1218	M	0.68728	2.09	0.58432	D	0.999998	B	0.32862	0.387	B	0.35039	0.194	T	0.30238	-0.9985	10	0.49607	T	0.09	-14.9688	17.8186	0.88643	0.0:1.0:0.0:0.0	.	885	O15067	PUR4_HUMAN	S	461;885;294	ENSP00000441706:P461S;ENSP00000313490:P885S	ENSP00000313490:P885S	P	+	1	0	PFAS	8110012	1.000000	0.71417	0.207000	0.23584	0.122000	0.20287	4.557000	0.60782	2.818000	0.97014	0.655000	0.94253	CCT		0.642	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			10	24	0	0	0	1	0	10	24				
ZNF408	79797	broad.mit.edu	37	11	46726700	46726700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46726700C>T	ENST00000311764.2	+	5	1680	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCTCCCTGCGGAACCATAT	0.667																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1450-1452)Cgg>Tgg		zinc finger protein 408							47.0	53.0	51.0					11																	46726700		2200	4299	6499	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726700C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1450C>T	11.37:g.46726700C>T	ENSP00000309606:p.Arg484Trp						p.R484W	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1680	+			484						Missense_Mutation	SNP	ENST00000311764.2	37	c.1450C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110488	0.37242	.	.	ENSG00000175213	ENST00000311764	T	0.22134	1.97	5.15	0.922	0.19408	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001015	T	0.16514	0.0397	L	0.54323	1.7	0.40089	D	0.976237	B;B	0.30236	0.274;0.274	B;B	0.26094	0.066;0.066	T	0.06023	-1.0850	10	0.37606	T	0.19	-24.8383	7.3632	0.26758	0.3339:0.5365:0.0:0.1296	.	476;484	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	484	ENSP00000309606:R484W	ENSP00000309606:R484W	R	+	1	2	ZNF408	46683276	0.999000	0.42202	0.998000	0.56505	0.070000	0.16714	0.677000	0.25262	0.421000	0.25980	0.563000	0.77884	CGG		0.667	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		33	45	0	0	0	1	0	33	45				
VPS45	11311	broad.mit.edu	37	1	150040755	150040755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150040755C>T	ENST00000369130.3	+	2	708	c.162C>T	c.(160-162)cgC>cgT	p.R54R	VPS45_ENST00000535106.1_Silent_p.R54R|VPS45_ENST00000369128.5_Silent_p.R18R	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	54					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTTGAACGCATTGATTCTC	0.398																																						ENST00000369130.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(160-162)cgC>cgT		vacuolar protein sorting 45 homolog (S. cerevisiae)							131.0	113.0	119.0					1																	150040755		2203	4300	6503	SO:0001819	synonymous_variant	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150040755C>T	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.162C>T	1.37:g.150040755C>T						VPS45_ENST00000369128.5_Silent_p.R18R|VPS45_ENST00000535106.1_Silent_p.R54R	p.R54R	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	708	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		54					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	ENST00000369130.3	37	c.162C>T	CCDS944.1																																																																																				0.398	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		15	97	0	0	0	1	0	15	97				
RPS6KA2	6196	broad.mit.edu	37	6	166836766	166836766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166836766G>A	ENST00000265678.4	-	17	1944	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T599M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T485M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T485M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T582M|RPS6KA2_ENST00000509742.1_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	574	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAAATTGGCCGTGTAGCAGGG	0.642																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1795-1797)aCg>aTg		ribosomal protein S6 kinase, 90kDa, polypeptide 2							58.0	54.0	56.0					6																	166836766		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166836766G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1721C>T	6.37:g.166836766G>A	ENSP00000265678:p.Thr574Met					RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T485M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T485M|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T574M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T582M	p.T599M			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	19	2136	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	574			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1796C>T	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874555	0.72180	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	3.87	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.975;0.983	D	0.88413	0.3023	10	0.87932	D	0	.	14.9868	0.71353	0.0:0.0:1.0:0.0	.	599;582;574	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	M	574;599;582;485;485	ENSP00000265678:T574M;ENSP00000422435:T599M;ENSP00000427015:T582M;ENSP00000422484:T485M;ENSP00000386050:T485M	ENSP00000265678:T574M	T	-	2	0	RPS6KA2	166756756	1.000000	0.71417	0.980000	0.43619	0.715000	0.41141	8.966000	0.93397	2.005000	0.58758	0.462000	0.41574	ACG		0.642	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		13	28	0	0	0	1	0	13	28				
CNGB1	1258	broad.mit.edu	37	16	57937774	57937774	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57937774G>A	ENST00000251102.8	-	27	2806	c.2746C>T	c.(2746-2748)Cgc>Tgc	p.R916C	CNGB1_ENST00000564448.1_Missense_Mutation_p.R910C	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	916					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.R916G(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTTGACGCGGTTCTGCACG	0.602																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			1	Substitution - Missense(1)	p.R916G(1)	prostate(1)	breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2728-2730)Cgc>Tgc		cyclic nucleotide gated channel beta 1							117.0	128.0	125.0					16																	57937774		2110	4218	6328	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57937774G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2746C>T	16.37:g.57937774G>A	ENSP00000251102:p.Arg916Cys					CNGB1_ENST00000251102.8_Missense_Mutation_p.R916C	p.R910C			Q14028	CNGB1_HUMAN			27	2788	-			916					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2728C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413765	0.83449	.	.	ENSG00000070729	ENST00000251102	D	0.97480	-4.4	4.82	4.82	0.62117	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.98614	0.9536	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99525	1.0959	10	0.87932	D	0	.	13.5354	0.61644	0.0:0.0:0.8439:0.1561	.	288;916	Q14028-2;Q14028	.;CNGB1_HUMAN	C	916	ENSP00000251102:R916C	ENSP00000251102:R916C	R	-	1	0	CNGB1	56495275	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.337000	0.52120	2.216000	0.71823	0.563000	0.77884	CGC		0.602	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		5	31	0	0	0	1	0	5	31				
XKRX	402415	broad.mit.edu	37	X	100169500	100169500	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100169500T>A	ENST00000372956.2	-	3	1781	c.1177A>T	c.(1177-1179)Att>Ttt	p.I393F	XKRX_ENST00000328526.5_Missense_Mutation_p.I406F|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	393						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCAATGGAAATCAGATAAGCA	0.408																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(1216-1218)Att>Ttt		XK, Kell blood group complex subunit-related, X-linked							184.0	151.0	162.0					X																	100169500		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100169500T>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1177A>T	X.37:g.100169500T>A	ENSP00000362047:p.Ile393Phe					XKRX_ENST00000372956.2_Missense_Mutation_p.I393F|XKRX_ENST00000468904.1_3'UTR	p.I406F	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN			3	1781	-			393					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.1216A>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	T	15.94	2.979637	0.53827	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.66815	-0.23;-0.23	5.74	3.2	0.36748	.	0.250012	0.41194	D	0.000936	T	0.66157	0.2761	L	0.43152	1.355	0.31439	N	0.672178	D	0.53312	0.959	P	0.54815	0.761	T	0.68663	-0.5349	10	0.54805	T	0.06	-7.697	7.6835	0.28528	0.0:0.0782:0.2286:0.6932	.	393	Q6PP77	XKR2_HUMAN	F	406;393	ENSP00000327570:I406F;ENSP00000362047:I393F	ENSP00000327570:I406F	I	-	1	0	XKRX	100056156	0.998000	0.40836	0.787000	0.31911	0.998000	0.95712	3.530000	0.53539	0.789000	0.33779	0.437000	0.28790	ATT		0.408	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		9	144	0	0	0	1	0	9	144				
CCNT2	905	broad.mit.edu	37	2	135711799	135711799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711799G>A	ENST00000264157.5	+	9	1804	c.1774G>A	c.(1774-1776)Gac>Aac	p.D592N	CCNT2_ENST00000537343.1_Missense_Mutation_p.D417N|CCNT2_ENST00000295238.6_Missense_Mutation_p.D592N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	592					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACACAGTGCCGACGGAATACC	0.557																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1774-1776)Gac>Aac		cyclin T2							105.0	96.0	99.0					2																	135711799		2203	4300	6503	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135711799G>A	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1774G>A	2.37:g.135711799G>A	ENSP00000264157:p.Asp592Asn					CCNT2_ENST00000537343.1_Missense_Mutation_p.D417N|CCNT2_ENST00000295238.6_Missense_Mutation_p.D592N	p.D592N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	1804	+			592					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.1774G>A	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980548	0.53827	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.25579	1.79;1.79	5.57	5.57	0.84162	.	0.315470	0.37577	N	0.002024	T	0.45637	0.1352	L	0.51422	1.61	0.48236	D	0.999611	D;D;D	0.89917	0.999;1.0;0.997	D;D;P	0.77557	0.923;0.99;0.886	T	0.08764	-1.0706	10	0.18276	T	0.48	.	19.554	0.95333	0.0:0.0:1.0:0.0	.	417;592;592	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	N	417;592;592	ENSP00000295238:D592N;ENSP00000264157:D592N	ENSP00000264157:D592N	D	+	1	0	CCNT2	135428269	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.235000	0.78143	2.632000	0.89209	0.650000	0.86243	GAC		0.557	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		21	29	0	0	0	1	0	21	29				
PDE4D	5144	broad.mit.edu	37	5	58270808	58270808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58270808G>A	ENST00000340635.6	-	15	2288	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	PDE4D_ENST00000360047.5_Missense_Mutation_p.R569C|PDE4D_ENST00000405755.2_Missense_Mutation_p.R583C|PDE4D_ENST00000546160.1_Missense_Mutation_p.R644C|PDE4D_ENST00000317118.8_Missense_Mutation_p.R414C|PDE4D_ENST00000358923.6_Missense_Mutation_p.R403C|PDE4D_ENST00000507116.1_Missense_Mutation_p.R641C|PDE4D_ENST00000503258.1_Missense_Mutation_p.R575C|PDE4D_ENST00000502484.2_Missense_Mutation_p.R644C	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	705					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TACCATTCACGATTGTCCTCC	0.537																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(2113-2115)Cgt>Tgt		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						68.0	70.0	69.0					5																	58270808		2030	4201	6231	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270808G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2113C>T	5.37:g.58270808G>A	ENSP00000345502:p.Arg705Cys					PDE4D_ENST00000317118.8_Missense_Mutation_p.R414C|PDE4D_ENST00000405755.2_Missense_Mutation_p.R583C|PDE4D_ENST00000507116.1_Missense_Mutation_p.R641C|PDE4D_ENST00000503258.1_Missense_Mutation_p.R575C|PDE4D_ENST00000546160.1_Missense_Mutation_p.R644C|PDE4D_ENST00000502484.2_Missense_Mutation_p.R644C|PDE4D_ENST00000360047.5_Missense_Mutation_p.R569C|PDE4D_ENST00000358923.6_Missense_Mutation_p.R403C	p.R705C	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2288	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	705					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.2113C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179040	0.57692	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.08	5.08	0.68730	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.102683	0.64402	D	0.000005	D	0.94732	0.8300	H	0.94423	3.535	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.996;0.994;1.0;1.0;0.994;0.998;1.0	D	0.95726	0.8770	10	0.66056	D	0.02	.	18.6453	0.91408	0.0:0.0:1.0:0.0	.	644;705;641;568;583;575;480;414	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	C	705;574;569;641;403;414;575;583;644;644;403	ENSP00000345502:R705C;ENSP00000353152:R569C;ENSP00000424852:R641C;ENSP00000351800:R403C;ENSP00000321739:R414C;ENSP00000425605:R575C;ENSP00000384806:R583C;ENSP00000423094:R644C;ENSP00000442734:R644C;ENSP00000421013:R403C	ENSP00000321739:R414C	R	-	1	0	PDE4D	58306565	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.488000	0.53229	2.641000	0.89580	0.655000	0.94253	CGT		0.537	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			4	49	0	0	0	1	0	4	49				
ASPDH	554235	broad.mit.edu	37	19	51015686	51015686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51015686G>A	ENST00000389208.4	-	5	645	c.584C>T	c.(583-585)gCg>gTg	p.A195V	JOSD2_ENST00000598418.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.A90V|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	195					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						GGCAGCCGCCGCCATGGTGTT	0.662																																						ENST00000389208.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(583-585)gCg>gTg		aspartate dehydrogenase domain containing							18.0	26.0	23.0					19																	51015686		2198	4290	6488	SO:0001583	missense	554235				NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding	g.chr19:51015686G>A		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.584C>T	19.37:g.51015686G>A	ENSP00000373860:p.Ala195Val					ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.A90V	p.A195V	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN			5	645	-			195					Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	c.584C>T	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613387	0.87359	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.47869	0.83;0.83	3.6	3.6	0.41247	Aspartate dehydrogenase (1);	0.079876	0.48286	D	0.000191	T	0.64560	0.2609	M	0.71581	2.175	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.991	T	0.68561	-0.5376	10	0.87932	D	0	-6.6042	11.1255	0.48315	0.0:0.0:1.0:0.0	.	195;90	A6ND91;A6ND91-2	ASPD_HUMAN;.	V	90;195	ENSP00000366114:A90V;ENSP00000373860:A195V	ENSP00000366114:A90V	A	-	2	0	ASPDH	55707498	1.000000	0.71417	0.849000	0.33467	0.927000	0.56198	5.196000	0.65136	1.752000	0.51891	0.561000	0.74099	GCG		0.662	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		8	11	0	0	0	1	0	8	11				
TMEM41A	90407	broad.mit.edu	37	3	185212550	185212550	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185212550C>A	ENST00000421852.1	-	4	531		c.e4-1		TMEM41A_ENST00000475480.1_Splice_Site|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTCCTCCACCTGTAGCCAAA	0.438																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.e4-1		transmembrane protein 41A							74.0	79.0	78.0					3																	185212550		2203	4300	6503	SO:0001630	splice_region_variant	90407					integral to membrane		g.chr3:185212550C>A	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.436-1G>T	3.37:g.185212550C>A						TMEM41A_ENST00000475480.1_Splice_Site|TMEM41A_ENST00000296254.3_Intron		NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	531	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)							A8K4B3|D3DNU2|Q6ZMJ0	Splice_Site	SNP	ENST00000421852.1	37		CCDS3271.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621551	0.87460	.	.	ENSG00000163900	ENST00000421852	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0576	0.97660	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM41A	186695244	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.725000	0.84808	2.741000	0.93983	0.563000	0.77884	.		0.438	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652	Intron	5	95	1	0	5.9392e-07	1	6.91975e-07	5	95				
LYPLA1	10434	broad.mit.edu	37	8	54963656	54963656	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:54963656C>T	ENST00000316963.3	-	8	748	c.555G>A	c.(553-555)acG>acA	p.T185T	LYPLA1_ENST00000343231.6_Silent_p.T169T|LYPLA1_ENST00000522007.1_3'UTR|LYPLA1_ENST00000519926.1_5'Flank	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	185					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GTTTTTCCACCGTAAGAGAAC	0.443																																						ENST00000316963.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(553-555)acG>acA		lysophospholipase I							120.0	112.0	115.0					8																	54963656		2203	4300	6503	SO:0001819	synonymous_variant	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54963656C>T	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.555G>A	8.37:g.54963656C>T						LYPLA1_ENST00000343231.6_Silent_p.T169T|LYPLA1_ENST00000522007.1_3'UTR	p.T185T	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		8	748	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	185					O43202|Q9UQF9	Silent	SNP	ENST00000316963.3	37	c.555G>A	CCDS6157.1																																																																																				0.443	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			34	55	0	0	0	1	0	34	55				
MYH2	4620	broad.mit.edu	37	17	10432210	10432210	+	Missense_Mutation	SNP	G	G	A	rs201768483		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10432210G>A	ENST00000245503.5	-	27	3925	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3541-3543)Cgc>Tgc		myosin, heavy chain 2, skeletal muscle, adult							72.0	78.0	76.0					17																	10432210		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432210G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3541C>T	17.37:g.10432210G>A	ENSP00000245503:p.Arg1181Cys					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1181C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3925	-			1181					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3541C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395488	0.62066	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84070	-1.8;-1.8	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.94138	0.8120	H	0.98027	4.13	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.95556	0.8625	10	0.87932	D	0	.	13.8114	0.63266	0.0:0.0:0.847:0.153	.	1181	Q9UKX2	MYH2_HUMAN	C	1181	ENSP00000245503:R1181C;ENSP00000380367:R1181C	ENSP00000245503:R1181C	R	-	1	0	MYH2	10372935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.020000	0.64066	2.707000	0.92482	0.655000	0.94253	CGC		0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		41	76	0	0	0	1	0	41	76				
RPL6	6128	broad.mit.edu	37	12	112843140	112843140	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112843140G>T	ENST00000424576.2	-	7	940	c.755C>A	c.(754-756)gCt>gAt	p.A252D	RPL6_ENST00000202773.9_Missense_Mutation_p.A252D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	252				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TGAGTCCACAGCTTTCTGATC	0.378																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(754-756)gCt>gAt		ribosomal protein L6							22.0	24.0	23.0					12																	112843140		2182	4278	6460	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112843140G>T	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.755C>A	12.37:g.112843140G>T	ENSP00000403172:p.Ala252Asp					RPL6_ENST00000202773.9_Missense_Mutation_p.A252D	p.A252D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			7	940	-			252	AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188).				Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.755C>A	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999045	0.54147	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.32023	1.47;1.47	5.15	4.26	0.50523	.	0.274240	0.41396	D	0.000881	T	0.40448	0.1117	M	0.87328	2.875	0.44098	D	0.996866	B	0.17852	0.024	B	0.24269	0.052	T	0.33369	-0.9871	10	0.39692	T	0.17	.	11.7667	0.51935	0.081:0.0:0.919:0.0	.	252	Q02878	RL6_HUMAN	D	252;252;192	ENSP00000202773:A252D;ENSP00000403172:A252D	ENSP00000202773:A252D	A	-	2	0	RPL6	111327523	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.012000	0.57131	1.179000	0.42884	0.591000	0.81541	GCT		0.378	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			14	30	1	0	2.61681e-11	1	3.25769e-11	14	30				
PHF20	51230	broad.mit.edu	37	20	34451299	34451299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34451299G>T	ENST00000374012.3	+	6	914	c.785G>T	c.(784-786)aGa>aTa	p.R262I	PHF20_ENST00000439301.1_Missense_Mutation_p.Q240H|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	262					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGAGGCAGACCCCCTTCC	0.448																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(784-786)aGa>aTa		PHD finger protein 20							102.0	112.0	108.0					20																	34451299		2201	4299	6500	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34451299G>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.785G>T	20.37:g.34451299G>T	ENSP00000363124:p.Arg262Ile					PHF20_ENST00000439301.1_Missense_Mutation_p.Q240H|PHF20_ENST00000481202.1_3'UTR	p.R262I			Q9BVI0	PHF20_HUMAN			6	914	+	Breast(12;0.00631)|all_lung(11;0.0145)		262					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.785G>T	CCDS13268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.45|17.45	3.393096|3.393096	0.62066|0.62066	.|.	.|.	ENSG00000025293|ENSG00000025293	ENST00000439301|ENST00000374012;ENST00000339089;ENST00000374000	T|T;T;T	0.46819|0.65732	0.86|0.76;-0.17;-0.16	5.83|5.83	5.83|5.83	0.93111|0.93111	.|AT hook, DNA-binding motif (1);	.|0.312796	.|0.34853	.|N	.|0.003622	T|T	0.72309|0.72309	0.3444|0.3444	L|L	0.29908|0.29908	0.895|0.895	0.28059|0.28059	N|N	0.933044|0.933044	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.999;1.0	T|T	0.68104|0.68104	-0.5497|-0.5497	7|10	0.59425|0.66056	D|D	0.04|0.02	.|.	20.1218|20.1218	0.97964|0.97964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|262;262;262	.|Q566Q2;Q9BVI0;Q66K49	.|.;PHF20_HUMAN;.	H|I	240|262	ENSP00000410373:Q240H|ENSP00000363124:R262I;ENSP00000341900:R262I;ENSP00000363112:R262I	ENSP00000410373:Q240H|ENSP00000341900:R262I	Q|R	+|+	3|2	2|0	PHF20|PHF20	33914713|33914713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.778000|6.778000	0.75043|0.75043	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.448	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		45	57	1	0	6.31075e-24	1	8.36301e-24	45	57				
IRS1	3667	broad.mit.edu	37	2	227660889	227660889	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227660889C>T	ENST00000305123.5	-	1	3586	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	856					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGGCCGGGCCAGGCGGCTA	0.662																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2566-2568)Gcc>Acc		insulin receptor substrate 1							33.0	42.0	39.0					2																	227660889		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660889C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2566G>A	2.37:g.227660889C>T	ENSP00000304895:p.Ala856Thr						p.A856T	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3586	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	856						Missense_Mutation	SNP	ENST00000305123.5	37	c.2566G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577507	0.13686	.	.	ENSG00000169047	ENST00000305123	T	0.56776	0.44	4.96	1.5	0.22942	.	0.239671	0.34676	N	0.003772	T	0.18087	0.0434	N	0.01048	-1.04	0.24627	N	0.993642	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.11485	T	0.65	-4.1715	8.6797	0.34201	0.0:0.6101:0.0:0.3899	.	856	P35568	IRS1_HUMAN	T	856	ENSP00000304895:A856T	ENSP00000304895:A856T	A	-	1	0	IRS1	227369133	0.260000	0.24053	0.932000	0.37286	0.951000	0.60555	-0.021000	0.12504	0.493000	0.27837	0.650000	0.86243	GCC		0.662	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		12	37	0	0	0	1	0	12	37				
SLC47A1	55244	broad.mit.edu	37	17	19480755	19480755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19480755C>T	ENST00000270570.4	+	17	1688	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	SLC47A1_ENST00000571335.1_Silent_p.G280G|SLC47A1_ENST00000395585.1_Silent_p.G534G|SLC47A1_ENST00000575023.1_Silent_p.G232G|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000457293.1_Silent_p.G534G|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	534					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CACAGGACGGCGCTAAATTGT	0.507																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1600-1602)ggC>ggT		solute carrier family 47 (multidrug and toxin extrusion), member 1							142.0	145.0	144.0					17																	19480755		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19480755C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1602C>T	17.37:g.19480755C>T						SLC47A1_ENST00000575023.1_Silent_p.G232G|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Silent_p.G534G|SLC47A1_ENST00000571335.1_Silent_p.G280G|SLC47A1_ENST00000395585.1_Silent_p.G534G	p.G534G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			17	1688	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		534					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.1602C>T	CCDS11209.1																																																																																				0.507	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		57	98	0	0	0	1	0	57	98				
GRK5	2869	broad.mit.edu	37	10	121214505	121214505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214505C>A	ENST00000392870.2	+	16	2028	c.1699C>A	c.(1699-1701)Ccc>Acc	p.P567T	GRK5_ENST00000369108.3_Missense_Mutation_p.P462T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	567					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAAGAGTTCGCCCAGCTCCAA	0.567																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(1699-1701)Ccc>Acc		G protein-coupled receptor kinase 5							122.0	108.0	113.0					10																	121214505		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121214505C>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1699C>A	10.37:g.121214505C>A	ENSP00000376609:p.Pro567Thr					GRK5_ENST00000369108.3_Missense_Mutation_p.P462T	p.P567T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	16	2028	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	567					D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1699C>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	C	9.538	1.112511	0.20795	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.68624	-0.3;-0.34	5.67	-1.05	0.10036	.	0.266798	0.26816	N	0.022350	T	0.51873	0.1700	L	0.58810	1.83	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31971	-0.9924	10	0.30854	T	0.27	-6.5437	3.5792	0.07946	0.1:0.4888:0.0979:0.3133	.	567;567	B2R7K0;P34947	.;GRK5_HUMAN	T	567;310;462	ENSP00000376609:P567T;ENSP00000358104:P462T	ENSP00000358104:P462T	P	+	1	0	GRK5	121204495	0.003000	0.15002	0.012000	0.15200	0.963000	0.63663	-0.124000	0.10595	0.046000	0.15833	-0.136000	0.14681	CCC		0.567	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		4	43	1	0	1.23904e-05	1	1.39987e-05	4	43				
HERC2P3	283755	broad.mit.edu	37	15	20588520	20588520	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20588520C>T	ENST00000428453.1	-	0	4230							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGCAACAGCTCAAGCTTTG	0.498																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20588520C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588520C>T														0	4230	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.498	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		15	14	0	0	0	1	0	15	14				
C12orf56	115749	broad.mit.edu	37	12	64661006	64661006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64661006G>T	ENST00000543942.2	-	13	2452	c.1826C>A	c.(1825-1827)cCt>cAt	p.P609H	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P449H|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	609										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTGAATGGTAGGTTGAGTGAT	0.333																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(1825-1827)cCt>cAt		chromosome 12 open reading frame 56							61.0	60.0	60.0					12																	64661006		1831	4077	5908	SO:0001583	missense	115749							g.chr12:64661006G>T		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1826C>A	12.37:g.64661006G>T	ENSP00000446101:p.Pro609His					C12orf56_ENST00000333722.5_Missense_Mutation_p.P449H|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	p.P609H	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	13	2452	-			612						Missense_Mutation	SNP	ENST00000543942.2	37	c.1826C>A		.	.	.	.	.	.	.	.	.	.	G	6.642	0.486898	0.12641	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	5.16	3.31	0.37934	.	0.195243	0.43416	N	0.000564	T	0.55000	0.1893	M	0.77103	2.36	0.09310	N	1	D;B	0.65815	0.995;0.001	P;B	0.58873	0.847;0.005	T	0.46789	-0.9166	8	.	.	.	-3.3866	6.7644	0.23558	0.0903:0.0:0.7346:0.1751	.	449;612	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	H	449;610;612	.	.	P	-	2	0	C12orf56	62947273	0.989000	0.36119	0.379000	0.26080	0.351000	0.29236	1.804000	0.38873	1.429000	0.47314	-0.219000	0.12488	CCT		0.333	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		8	10	1	0	1.33987e-11	1	1.67317e-11	8	10				
SYT6	148281	broad.mit.edu	37	1	114680571	114680571	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680571C>T	ENST00000610222.1	-	3	763	c.617G>A	c.(616-618)cGc>cAc	p.R206H	SYT6_ENST00000393296.1_Missense_Mutation_p.R206H|SYT6_ENST00000609117.1_Missense_Mutation_p.R121H|SYT6_ENST00000607941.1_Missense_Mutation_p.R121H|SYT6_ENST00000369547.1_Missense_Mutation_p.R121H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	206					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTTGATGCGGCCAATGCT	0.572																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(616-618)cGc>cAc		synaptotagmin VI							94.0	81.0	85.0					1																	114680571		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680571C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.617G>A	1.37:g.114680571C>T	ENSP00000476396:p.Arg206His					SYT6_ENST00000369547.1_Missense_Mutation_p.R121H	p.R206H			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	694	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	206					B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.617G>A		.	.	.	.	.	.	.	.	.	.	C	29.3	4.993302	0.93167	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.59906	0.27;0.23;0.27;0.23	5.38	5.38	0.77491	.	0.107640	0.64402	D	0.000007	T	0.63663	0.2530	M	0.78456	2.415	0.80722	D	1	P	0.46859	0.885	P	0.49361	0.608	T	0.69960	-0.5003	10	0.72032	D	0.01	.	19.1313	0.93408	0.0:1.0:0.0:0.0	.	206	Q5T7P8	SYT6_HUMAN	H	121;206;121;206	ENSP00000358560:R121H;ENSP00000376974:R206H;ENSP00000358559:R121H;ENSP00000358558:R206H	ENSP00000358558:R206H	R	-	2	0	SYT6	114482094	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.795000	0.85887	2.518000	0.84900	0.655000	0.94253	CGC		0.572	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		18	26	0	0	0	1	0	18	26				
TRAPPC12	51112	broad.mit.edu	37	2	3428406	3428406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3428406C>A	ENST00000324266.5	+	5	1584	c.1389C>A	c.(1387-1389)taC>taA	p.Y463*	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.Y463*	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	463					vesicle-mediated transport (GO:0016192)												ATTACGAGTACTACCCGCACG	0.443																																						ENST00000324266.5																			0											c.(1387-1389)taC>taA		trafficking protein particle complex 12							204.0	204.0	204.0					2																	3428406		2203	4300	6503	SO:0001587	stop_gained	51112						binding	g.chr2:3428406C>A	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1389C>A	2.37:g.3428406C>A	ENSP00000324318:p.Tyr463*					TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.Y463*|TRAPPC12_ENST00000469147.1_3'UTR	p.Y463*	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			5	1584	+			463					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Nonsense_Mutation	SNP	ENST00000324266.5	37	c.1389C>A	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.749830|5.749830	0.96890|0.96890	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000441983|ENST00000382110;ENST00000304601;ENST00000324266	.|.	.|.	.|.	5.73|5.73	4.85|4.85	0.62838|0.62838	.|.	.|0.061286	.|0.64402	.|D	.|0.000002	T|.	0.16599|.	0.0399|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26950|.	-1.0088|.	3|.	.|0.02654	.|T	.|1	.|.	6.0264|6.0264	0.19658|0.19658	0.0:0.6776:0.1702:0.1522|0.0:0.6776:0.1702:0.1522	.|.	.|.	.|.	.|.	N|X	143|463;446;463	.|.	.|ENSP00000303612:Y446X	T|Y	+|+	2|3	0|2	TTC15|TTC15	3407413|3407413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.590000|0.590000	0.36582|0.36582	2.931000|2.931000	0.48932|0.48932	1.415000|1.415000	0.47037|0.47037	0.655000|0.655000	0.94253|0.94253	ACT|TAC		0.443	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		16	198	1	0	1.01871e-10	1	1.25892e-10	16	198				
CYP4X1	260293	broad.mit.edu	37	1	47501745	47501745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501745G>A	ENST00000371901.3	+	6	927	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R225H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	226						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATATTTCACCGCTTGTACAGT	0.393																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(676-678)cGc>cAc		cytochrome P450, family 4, subfamily X, polypeptide 1							133.0	133.0	133.0					1																	47501745		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47501745G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.677G>A	1.37:g.47501745G>A	ENSP00000360968:p.Arg226His					CYP4X1_ENST00000538609.1_Missense_Mutation_p.R225H	p.R226H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			6	927	+			226					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.677G>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275556	0.59649	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.80393	-1.37;-0.35	5.91	0.69	0.18039	.	0.116909	0.56097	N	0.000040	D	0.86272	0.5893	M	0.87971	2.92	0.09310	N	0.999995	D;D	0.71674	0.995;0.998	P;P	0.59056	0.805;0.851	T	0.78023	-0.2366	10	0.87932	D	0	.	6.9821	0.24708	0.1946:0.2318:0.5737:0.0	.	226;225	Q8N118;G3V1U1	CP4X1_HUMAN;.	H	225;226	ENSP00000445965:R225H;ENSP00000360968:R226H	ENSP00000360968:R226H	R	+	2	0	CYP4X1	47274332	0.016000	0.18221	0.001000	0.08648	0.003000	0.03518	1.505000	0.35736	-0.107000	0.12088	-0.274000	0.10170	CGC		0.393	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		68	81	0	0	0	1	0	68	81				
PCDHGA1	56114	broad.mit.edu	37	5	140710700	140710700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140710700C>T	ENST00000517417.1	+	1	449	c.449C>T	c.(448-450)aCc>aTc	p.T150I	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T150I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCAGGTACCAGAGTCTCA	0.418																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(448-450)aCc>aTc									106.0	113.0	111.0					5																	140710700		2203	4300	6503	SO:0001583	missense	0							g.chr5:140710700C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.449C>T	5.37:g.140710700C>T	ENSP00000431083:p.Thr150Ile					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T150I	p.T150I	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	449	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.449C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155319	0.21454	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.58210	0.35;0.35	4.2	4.2	0.49525	Cadherin (3);Cadherin-like (1);	0.134270	0.33916	N	0.004433	T	0.59088	0.2168	M	0.90542	3.125	0.09310	N	1	B;B	0.31153	0.264;0.31	B;B	0.34242	0.16;0.178	T	0.55952	-0.8059	10	0.34782	T	0.22	.	10.4176	0.44331	0.0:0.9087:0.0:0.0913	.	150;150	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	150	ENSP00000431083:T150I;ENSP00000367345:T150I	ENSP00000367345:T150I	T	+	2	0	PCDHGA1	140690884	0.002000	0.14202	1.000000	0.80357	0.451000	0.32288	1.840000	0.39230	2.349000	0.79799	0.655000	0.94253	ACC		0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		71	111	0	0	0	1	0	71	111				
LUM	4060	broad.mit.edu	37	12	91502238	91502238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91502238C>A	ENST00000266718.4	-	2	973	c.519G>T	c.(517-519)gaG>gaT	p.E173D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	173					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AAACAGCATCCTCTTTCAGCC	0.453																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(517-519)gaG>gaT		lumican							103.0	104.0	103.0					12																	91502238		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502238C>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.519G>T	12.37:g.91502238C>A	ENSP00000266718:p.Glu173Asp					LUM_ENST00000548071.1_Intron	p.E173D	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	973	-			173					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.519G>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	0.274	-0.990682	0.02162	.	.	ENSG00000139329	ENST00000266718	T	0.58210	0.35	5.45	-0.696	0.11287	.	0.393101	0.27513	N	0.019022	T	0.32585	0.0834	L	0.39467	1.215	0.38294	D	0.942784	B	0.06786	0.001	B	0.15052	0.012	T	0.27400	-1.0075	10	0.07175	T	0.84	-18.9554	6.3478	0.21359	0.1327:0.2978:0.0:0.5695	.	173	P51884	LUM_HUMAN	D	173	ENSP00000266718:E173D	ENSP00000266718:E173D	E	-	3	2	LUM	90026369	0.011000	0.17503	0.745000	0.31077	0.526000	0.34562	-1.048000	0.03517	-0.462000	0.06984	-0.259000	0.10710	GAG		0.453	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		12	94	1	0	0.000978159	1	0.00105116	12	94				
PSMC2	5701	broad.mit.edu	37	7	103008238	103008238	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103008238C>T	ENST00000435765.1	+	12	1537	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	PSMC2_ENST00000292644.3_Silent_p.L376L|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Silent_p.L239L	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTAGCACGACTGTGTCCAAA	0.373																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1126-1128)Ctg>Ttg		proteasome (prosome, macropain) 26S subunit, ATPase, 2							108.0	111.0	110.0					7																	103008238		2203	4300	6503	SO:0001819	synonymous_variant	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008238C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1126C>T	7.37:g.103008238C>T						PSMC2_ENST00000292644.3_Silent_p.L376L|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.L239L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	p.L376L	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			12	1537	+			376					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.1126C>T	CCDS5731.1																																																																																				0.373	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		7	126	0	0	0	1	0	7	126				
ARHGEF37	389337	broad.mit.edu	37	5	148997783	148997783	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148997783C>A	ENST00000333677.6	+	6	866	c.703C>A	c.(703-705)Ctg>Atg	p.L235M		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	235						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGGGAGCGGCTGGCCCGCAT	0.622																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(703-705)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 37							82.0	92.0	89.0					5																	148997783		2050	4190	6240	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148997783C>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.703C>A	5.37:g.148997783C>A	ENSP00000328083:p.Leu235Met						p.L235M	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			6	866	+			235					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.703C>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086206	0.55861	.	.	ENSG00000183111	ENST00000333677	T	0.56776	0.44	5.7	3.69	0.42338	.	0.261621	0.35615	N	0.003094	T	0.54743	0.1877	L	0.46157	1.445	0.42444	D	0.992722	D	0.58620	0.983	P	0.54629	0.757	T	0.54330	-0.8310	10	0.41790	T	0.15	-3.2277	9.4234	0.38565	0.0:0.7386:0.0:0.2614	.	235	A1IGU5	ARH37_HUMAN	M	235	ENSP00000328083:L235M	ENSP00000328083:L235M	L	+	1	2	ARHGEF37	148977976	0.926000	0.31397	0.998000	0.56505	0.661000	0.39034	0.443000	0.21644	1.430000	0.47334	-0.136000	0.14681	CTG		0.622	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		35	49	1	0	4.32679e-17	1	5.60236e-17	35	49				
FAM126A	84668	broad.mit.edu	37	7	22985427	22985427	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22985427T>C	ENST00000432176.2	-	11	1579	c.1347A>G	c.(1345-1347)gtA>gtG	p.V449V	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'Flank	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	449					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATTTACTAAATACAGTCGCTG	0.468																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1345-1347)gtA>gtG		family with sequence similarity 126, member A							98.0	91.0	93.0					7																	22985427		2203	4300	6503	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985427T>C	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1347A>G	7.37:g.22985427T>C						FAM126A_ENST00000409923.1_3'UTR	p.V449V	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN			11	1579	-			449					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.1347A>G	CCDS5377.1																																																																																				0.468	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		3	84	0	0	0	1	0	3	84				
GTF3C1	2975	broad.mit.edu	37	16	27510034	27510034	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27510034C>T	ENST00000356183.4	-	13	2097	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	GTF3C1_ENST00000561623.1_Silent_p.P694P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	694					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCCATGGACGGGTGCACCA	0.582																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(2080-2082)ccG>ccA		general transcription factor IIIC, polypeptide 1, alpha 220kDa							151.0	130.0	137.0					16																	27510034		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27510034C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2082G>A	16.37:g.27510034C>T						GTF3C1_ENST00000561623.1_Silent_p.P694P	p.P694P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			13	2097	-			694					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.2082G>A	CCDS32414.1																																																																																				0.582	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		36	57	0	0	0	1	0	36	57				
ASB6	140459	broad.mit.edu	37	9	132404200	132404200	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132404200T>C	ENST00000277458.4	-	1	244	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	ASB6_ENST00000277459.4_Missense_Mutation_p.I27V|ASB6_ENST00000450050.2_Silent_p.G8G|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	27					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGTCCTGGATCCCCAGGGAG	0.687																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(79-81)Atc>Gtc		ankyrin repeat and SOCS box containing 6							32.0	34.0	33.0					9																	132404200		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132404200T>C		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.79A>G	9.37:g.132404200T>C	ENSP00000277458:p.Ile27Val					ASB6_ENST00000277459.4_Missense_Mutation_p.I27V|ASB6_ENST00000450050.2_Silent_p.G8G	p.I27V	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			1	244	-		Ovarian(14;0.00556)	27					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.79A>G	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479512	0.44044	.	.	ENSG00000148331	ENST00000277459;ENST00000277458	T;T	0.70631	0.45;-0.5	4.34	4.34	0.51931	.	0.201573	0.42548	D	0.000694	T	0.53867	0.1823	N	0.24115	0.695	0.80722	D	1	B;B;B	0.32968	0.028;0.392;0.012	B;B;B	0.29942	0.011;0.109;0.007	T	0.56232	-0.8013	10	0.46703	T	0.11	-28.1303	10.2427	0.43321	0.0:0.0:0.1657:0.8342	.	27;27;27	A8K9U2;Q9NWX5-2;Q9NWX5	.;.;ASB6_HUMAN	V	27	ENSP00000277459:I27V;ENSP00000277458:I27V	ENSP00000277458:I27V	I	-	1	0	ASB6	131444021	0.063000	0.20901	0.991000	0.47740	0.937000	0.57800	0.372000	0.20467	1.578000	0.49821	0.418000	0.28097	ATC		0.687	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		11	16	0	0	0	1	0	11	16				
SPATA13	221178	broad.mit.edu	37	13	24860369	24860369	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:24860369C>T	ENST00000382095.4	+	5	851	c.444C>T	c.(442-444)aaC>aaT	p.N148N	SPATA13_ENST00000409126.1_Silent_p.N70N|RP11-307N16.6_ENST00000382141.4_Silent_p.N651N|SPATA13_ENST00000424834.2_Silent_p.N773N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000343003.6_Silent_p.N92N|SPATA13_ENST00000382108.3_Silent_p.N773N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	148	ABR (APC-binding region) domain.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2317-2319)aaC>aaT		spermatogenesis associated 13							128.0	118.0	121.0					13																	24860369		2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860369C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.444C>T	13.37:g.24860369C>T						SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000343003.6_Silent_p.N92N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000382095.4_Silent_p.N148N|SPATA13_ENST00000399949.2_Silent_p.N70N	p.N773N			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2792	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	148					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.2319C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	0.656	-0.807490	0.02819	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.25	-8.84	0.00803	.	.	.	.	.	T	0.63010	0.2475	.	.	.	0.39784	D	0.972346	.	.	.	.	.	.	T	0.70702	-0.4799	4	.	.	.	.	17.2468	0.87030	0.0:0.676:0.0:0.324	.	.	.	.	C	811	.	.	R	+	1	0	SPATA13	23758369	0.138000	0.22547	0.890000	0.34922	0.065000	0.16274	-0.394000	0.07296	-1.168000	0.02776	-1.202000	0.01658	CGT		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		42	61	0	0	0	1	0	42	61				
IKBKAP	8518	broad.mit.edu	37	9	111651668	111651668	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111651668G>A	ENST00000374647.5	-	29	3473	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	IKBKAP_ENST00000537196.1_Silent_p.L707L|IKBKAP_ENST00000467959.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1056					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCTCAACCAGCTTTCCTGTA	0.413																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3166-3168)Ctg>Ttg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							132.0	126.0	128.0					9																	111651668		2203	4300	6503	SO:0001819	synonymous_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111651668G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3166C>T	9.37:g.111651668G>A						IKBKAP_ENST00000537196.1_Silent_p.L707L|IKBKAP_ENST00000467959.1_5'UTR	p.L1056L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			29	3473	-			1056					Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	c.3166C>T	CCDS6773.1																																																																																				0.413	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			7	98	0	0	0	1	0	7	98				
UTP14C	9724	broad.mit.edu	37	13	52603190	52603190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52603190C>A	ENST00000521776.2	+	2	983	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	84					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGAGAAAAGCTGGGCCTTGC	0.448																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(250-252)Ctg>Atg		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							167.0	174.0	171.0					13																	52603190		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603190C>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.250C>A	13.37:g.52603190C>A	ENSP00000428619:p.Leu84Met					ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.L84M	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	983	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	84					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.250C>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452039	0.43531	.	.	ENSG00000253797	ENST00000521776	T	0.26067	1.76	2.56	2.56	0.30785	.	0.121735	0.53938	D	0.000053	T	0.50394	0.1613	M	0.88105	2.93	0.33769	D	0.622824	D	0.76494	0.999	D	0.78314	0.991	T	0.64206	-0.6462	10	0.72032	D	0.01	-9.7486	6.6829	0.23129	0.2821:0.7178:0.0:0.0	.	84	Q5TAP6	UT14C_HUMAN	M	84	ENSP00000428619:L84M	ENSP00000428619:L84M	L	+	1	2	UTP14C	51501191	0.918000	0.31147	0.995000	0.50966	0.972000	0.66771	0.049000	0.14099	1.441000	0.47550	0.448000	0.29417	CTG		0.448	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		7	121	1	0	1.26484e-09	1	1.54084e-09	7	121				
ITLN1	55600	broad.mit.edu	37	1	160854649	160854649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160854649G>T	ENST00000326245.3	-	2	134	c.19C>A	c.(19-21)Ctg>Atg	p.L7M		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	7					positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAACAGCAGGAAGCTGAGT	0.507																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(19-21)Ctg>Atg		intelectin 1 (galactofuranose binding)							201.0	187.0	192.0					1																	160854649		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160854649G>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.19C>A	1.37:g.160854649G>T	ENSP00000323587:p.Leu7Met						p.L7M	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	134	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		7					Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.19C>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887218	0.33348	.	.	ENSG00000179914	ENST00000326245	T	0.21734	1.99	2.85	0.964	0.19655	.	0.466636	0.15439	N	0.262268	T	0.23094	0.0558	M	0.72894	2.215	0.19300	N	0.999973	D	0.89917	1.0	D	0.91635	0.999	T	0.03060	-1.1077	10	0.51188	T	0.08	-2.6051	5.0473	0.14490	0.2887:0.0:0.7113:0.0	.	7	Q8WWA0	ITLN1_HUMAN	M	7	ENSP00000323587:L7M	ENSP00000323587:L7M	L	-	1	2	ITLN1	159121273	0.971000	0.33674	0.393000	0.26258	0.017000	0.09413	0.727000	0.25999	0.259000	0.21709	-0.137000	0.14449	CTG		0.507	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		13	216	1	0	9.05144e-12	1	1.1316e-11	13	216				
MAPK8	5599	broad.mit.edu	37	10	49643001	49643001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49643001G>A	ENST00000374189.1	+	12	1394	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MAPK8_ENST00000360332.3_Missense_Mutation_p.D405N|MAPK8_ENST00000374182.3_3'UTR|MAPK8_ENST00000459755.1_3'UTR			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	405					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AATGTCAACAGATCCGACTTT	0.517																																						ENST00000374189.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34						c.(1213-1215)Gat>Aat		mitogen-activated protein kinase 8							240.0	211.0	221.0					10																	49643001		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49643001G>A	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.1213G>A	10.37:g.49643001G>A	ENSP00000363304:p.Asp405Asn					MAPK8_ENST00000374182.3_3'UTR|MAPK8_ENST00000360332.3_Missense_Mutation_p.D405N|MAPK8_ENST00000459755.1_3'UTR	p.D405N			P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	12	1394	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	405					B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.1213G>A	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371080	0.82573	.	.	ENSG00000107643	ENST00000374189;ENST00000360332;ENST00000374176	T;T;T	0.75154	-0.91;-0.91;-0.91	5.81	5.81	0.92471	.	0.105180	0.64402	D	0.000006	T	0.75162	0.3812	L	0.44542	1.39	0.80722	D	1	P;P	0.42248	0.774;0.774	P;P	0.44623	0.455;0.455	T	0.76937	-0.2774	10	0.72032	D	0.01	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	405;405	P45983;A1L4K2	MK08_HUMAN;.	N	405	ENSP00000363304:D405N;ENSP00000353483:D405N;ENSP00000363291:D405N	ENSP00000353483:D405N	D	+	1	0	MAPK8	49313007	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.851000	0.86920	2.746000	0.94184	0.591000	0.81541	GAT		0.517	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			67	130	0	0	0	1	0	67	130				
TMEM161A	54929	broad.mit.edu	37	19	19243998	19243998	+	Silent	SNP	C	C	T	rs368278210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19243998C>T	ENST00000162044.9	-	3	193	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMEM161A_ENST00000592147.1_5'UTR|TMEM161A_ENST00000450333.2_Silent_p.P43P|TMEM161A_ENST00000587583.2_Silent_p.P43P	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	43					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCTCCTCAGACGGGTGCTTGT	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17498	0.0		0.0	False		,,,				2504	0.0					ENST00000450333.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(127-129)ccG>ccA		transmembrane protein 161A		C		0,4406		0,0,2203	39.0	42.0	41.0		129	-8.7	0.0	19		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM161A	NM_017814.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		43/480	19243998	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19243998C>T	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.129G>A	19.37:g.19243998C>T						TMEM161A_ENST00000587583.2_Silent_p.P43P|TMEM161A_ENST00000162044.9_Silent_p.P43P|TMEM161A_ENST00000592369.1_5'UTR	p.P43P	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		3	166	-			43					B3KUE0|G5E9M6|Q7L2Y1	Silent	SNP	ENST00000162044.9	37	c.129G>A	CCDS12393.1																																																																																				0.647	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		10	28	0	0	0	1	0	10	28				
ACSS2	55902	broad.mit.edu	37	20	33511157	33511157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33511157G>A	ENST00000360596.2	+	14	1791	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	ACSS2_ENST00000253382.5_Missense_Mutation_p.R540H|ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Missense_Mutation_p.R477H	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	527					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGATCATGCGCACAGTCTAT	0.483																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1579-1581)cGc>cAc		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						154.0	121.0	132.0					20																	33511157		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33511157G>A	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1580G>A	20.37:g.33511157G>A	ENSP00000353804:p.Arg527His					ACSS2_ENST00000336325.4_Missense_Mutation_p.R477H|ACSS2_ENST00000253382.5_Missense_Mutation_p.R540H|ACSS2_ENST00000476922.1_3'UTR	p.R527H	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			14	1791	+			527					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1580G>A	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660958	0.96734	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.48836	0.8;0.8;0.8	5.4	5.4	0.78164	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.79584	-0.1743	10	0.87932	D	0	-19.604	19.3757	0.94508	0.0:0.0:1.0:0.0	.	540;527	Q5QPH3;Q9NR19	.;ACSA_HUMAN	H	477;527;525;235;540	ENSP00000337190:R477H;ENSP00000353804:R527H;ENSP00000253382:R540H	ENSP00000253382:R540H	R	+	2	0	ACSS2	32974818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.599000	0.98280	2.814000	0.96858	0.655000	0.94253	CGC		0.483	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		9	20	0	0	0	1	0	9	20				
PER3	8863	broad.mit.edu	37	1	7887550	7887550	+	Missense_Mutation	SNP	C	C	A	rs367596473		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887550C>A	ENST00000361923.2	+	17	2712	c.2537C>A	c.(2536-2538)aCt>aAt	p.T846N	PER3_ENST00000377532.3_Missense_Mutation_p.T854N|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	846	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGATACTTTTATGACC	0.567																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2560-2562)aCt>aAt		period circadian clock 3							181.0	177.0	178.0					1																	7887550		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887550C>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2537C>A	1.37:g.7887550C>A	ENSP00000355031:p.Thr846Asn					PER3_ENST00000361923.2_Missense_Mutation_p.T846N	p.T854N			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2785	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	846			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2561C>A	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620835	0.46736	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10192	2.9;2.9	4.2	3.29	0.37713	.	0.667620	0.14506	N	0.315458	T	0.24044	0.0582	L	0.58101	1.795	0.09310	N	1	D;D;D;D	0.71674	0.996;0.997;0.998;0.996	P;P;D;P	0.64877	0.806;0.852;0.93;0.806	T	0.04255	-1.0965	10	0.38643	T	0.18	.	9.6444	0.39859	0.0:0.8222:0.0:0.1778	.	846;854;854;846	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	N	854;846;57	ENSP00000366755:T854N;ENSP00000355031:T846N	ENSP00000355031:T846N	T	+	2	0	PER3	7810137	0.002000	0.14202	0.001000	0.08648	0.329000	0.28539	1.646000	0.37249	0.981000	0.38548	0.555000	0.69702	ACT		0.567	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		14	186	1	0	0.000958276	1	0.00103117	14	186				
A1CF	29974	broad.mit.edu	37	10	52601697	52601697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52601697C>T	ENST00000373993.1	-	3	334	c.290G>A	c.(289-291)gGa>gAa	p.G97E	A1CF_ENST00000373997.3_Missense_Mutation_p.G97E|A1CF_ENST00000282641.2_Missense_Mutation_p.G97E|A1CF_ENST00000374001.2_Missense_Mutation_p.G97E|A1CF_ENST00000395495.1_Missense_Mutation_p.G97E|A1CF_ENST00000373995.3_Missense_Mutation_p.G105E|A1CF_ENST00000395489.2_Missense_Mutation_p.G90E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	97	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATGCATATCCTCTATTGTT	0.294																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(268-270)gGa>gAa		APOBEC1 complementation factor							148.0	141.0	143.0					10																	52601697		2202	4299	6501	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52601697C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.290G>A	10.37:g.52601697C>T	ENSP00000363105:p.Gly97Glu					A1CF_ENST00000373993.1_Missense_Mutation_p.G97E|A1CF_ENST00000395495.1_Missense_Mutation_p.G97E|A1CF_ENST00000282641.2_Missense_Mutation_p.G97E|A1CF_ENST00000373997.3_Missense_Mutation_p.G97E|A1CF_ENST00000374001.1_Missense_Mutation_p.G97E|A1CF_ENST00000373995.3_Missense_Mutation_p.G105E	p.G90E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			7	665	-			97			RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.269G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821583	0.90873	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;2.45;-0.12;2.45;2.45;2.45	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.999	D	0.90017	0.4125	10	0.87932	D	0	-8.4702	17.4703	0.87645	0.0:1.0:0.0:0.0	.	90;97;97;105	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	E	97;97;97;105;97;97;80;90;97	ENSP00000363113:G97E;ENSP00000363105:G97E;ENSP00000363109:G97E;ENSP00000363107:G105E;ENSP00000282641:G97E;ENSP00000378873:G97E;ENSP00000378868:G90E;ENSP00000397953:G97E	ENSP00000282641:G97E	G	-	2	0	A1CF	52271703	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.741000	0.84997	2.733000	0.93635	0.467000	0.42956	GGA		0.294	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		17	38	0	0	0	1	0	17	38				
MARVELD2	153562	broad.mit.edu	37	5	68728780	68728780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68728780C>T	ENST00000325631.5	+	5	1437	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.R339*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	455					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGATGATGAGCGAGAACGCTA	0.413																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(1363-1365)Cga>Tga		MARVEL domain containing 2							138.0	135.0	136.0					5																	68728780		2203	4300	6503	SO:0001587	stop_gained	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68728780C>T	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1363C>T	5.37:g.68728780C>T	ENSP00000323264:p.Arg455*					MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.R339*	p.R455*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	5	1437	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	455					A1BQX0|A1BQX1|A8KA97|Q96NM9	Nonsense_Mutation	SNP	ENST00000325631.5	37	c.1363C>T	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	C	41	8.579033	0.98870	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	.	.	.	5.74	4.85	0.62838	.	0.062101	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.329	13.674	0.62443	0.2592:0.7408:0.0:0.0	.	.	.	.	X	455;443;455;339;339	.	ENSP00000323264:R455X	R	+	1	2	MARVELD2	68764536	0.989000	0.36119	0.596000	0.28811	0.969000	0.65631	1.540000	0.36115	2.715000	0.92844	0.655000	0.94253	CGA		0.413	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		38	57	0	0	0	1	0	38	57				
ARSD	414	broad.mit.edu	37	X	2836236	2836236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2836236G>A	ENST00000381154.1	-	5	547	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	158					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATCCCCGCGGGATGCACAA	0.552																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(472-474)Cgc>Tgc		arylsulfatase D							29.0	17.0	21.0					X																	2836236		2188	4279	6467	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2836236G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.472C>T	X.37:g.2836236G>A	ENSP00000370546:p.Arg158Cys					ARSD_ENST00000217890.6_5'UTR	p.R158C	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			5	547	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	158					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.472C>T	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.294554	0.23564	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.98602	-5.02	3.47	3.47	0.39725	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.144445	0.42821	U	0.000656	D	0.98654	0.9549	H	0.95539	3.685	0.09310	N	0.999994	D;D	0.62365	0.991;0.975	P;P	0.55161	0.77;0.763	D	0.95552	0.8621	10	0.66056	D	0.02	.	6.4363	0.21825	0.1115:0.1846:0.7039:0.0	.	158;158	E9PAW5;P51689	.;ARSD_HUMAN	C	158	ENSP00000370546:R158C	ENSP00000217890:R158C	R	-	1	0	ARSD	2846236	0.001000	0.12720	0.002000	0.10522	0.030000	0.12068	0.987000	0.29603	1.394000	0.46624	0.420000	0.28162	CGC		0.552	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			3	15	0	0	0	1	0	3	15				
SMARCA4	6597	broad.mit.edu	37	19	11150164	11150164	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11150164G>A	ENST00000429416.3	+	31	4451				SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Intron|SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A1401T|SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000344626.4_Intron	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ccatgacacaGCCAGCAGTGT	0.493			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4201-4203)Gcc>Acc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							58.0	53.0	55.0					19																	11150164		1567	3580	5147	SO:0001627	intron_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11150164G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4171-1819G>A	19.37:g.11150164G>A						SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000344626.4_Intron|SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000429416.3_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000450717.3_Intron	p.A1401T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			30	4485	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1389					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4201G>A	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.63|11.63	1.696207|1.696207	0.30052|0.30052	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000358026|ENST00000538456	D|.	0.87029|.	-2.2|.	0.727|0.727	0.727|0.727	0.18254|0.18254	.|.	2.282080|.	0.04888|.	U|.	0.448995|.	T|T	0.17023|0.17023	0.0409|0.0409	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	P|.	0.43392|.	0.805|.	P|.	0.45506|.	0.483|.	T|T	0.28650|0.28650	-1.0037|-1.0037	9|4	0.19147|.	T|.	0.46|.	.|.	.|.	.|.	.|.	.|.	1401|.	Q9HBD4|.	.|.	T|N	1401|137	ENSP00000350720:A1401T|.	ENSP00000350720:A1401T|.	A|S	+|+	1|2	0|0	SMARCA4|SMARCA4	11011164|11011164	0.127000|0.127000	0.22367|0.22367	0.018000|0.018000	0.16275|0.16275	0.917000|0.917000	0.54804|0.54804	0.727000|0.727000	0.25999|0.25999	0.662000|0.662000	0.31006|0.31006	0.313000|0.313000	0.20887|0.20887	GCC|AGC		0.493	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	9	0	0	0	1	0	6	9				
CLCN7	1186	broad.mit.edu	37	16	1504419	1504419	+	Silent	SNP	G	G	A	rs140154323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1504419G>A	ENST00000382745.4	-	13	1751	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.G358G|CLCN7_ENST00000262318.8_Silent_p.G358G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	382					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TACCCACCACGCCCATGGCGA	0.627																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1144-1146)ggC>ggT		chloride channel, voltage-sensitive 7		G	,	0,4398		0,0,2199	114.0	89.0	97.0		1074,1146	-9.6	0.3	16	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	358/782,382/806	1504419	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1504419G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1146C>T	16.37:g.1504419G>A						CLCN7_ENST00000448525.1_Silent_p.G358G|CLCN7_ENST00000262318.8_Silent_p.G358G	p.G382G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			13	1751	-		Hepatocellular(780;0.0893)	382					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1146C>T	CCDS32361.1																																																																																				0.627	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		10	25	0	0	0	1	0	10	25				
ZEB2	9839	broad.mit.edu	37	2	145147065	145147065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147065C>A	ENST00000558170.2	-	10	4782	c.3598G>T	c.(3598-3600)Gaa>Taa	p.E1200*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1200*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1200*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1176*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1200	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATTTGGTTTCCATTTTCCCA	0.388																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3598-3600)Gaa>Taa		zinc finger E-box binding homeobox 2							263.0	246.0	251.0					2																	145147065		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147065C>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3598G>T	2.37:g.145147065C>A	ENSP00000454157:p.Glu1200*					ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1200*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1176*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1200*	p.E1200*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4782	-			1200			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.3598G>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	41	8.680400	0.98912	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.51	5.51	0.81932	.	0.090756	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-11.7567	19.7945	0.96474	0.0:1.0:0.0:0.0	.	.	.	.	X	1176;1200;1200	.	ENSP00000302501:E1200X	E	-	1	0	ZEB2	144863535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.746000	0.94184	0.591000	0.81541	GAA		0.388	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		10	234	1	0	0.0692343	1	0.0706532	10	234				
TTF1	7270	broad.mit.edu	37	9	135277278	135277278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135277278G>A	ENST00000334270.2	-	2	970	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	311					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACAGCAGGCCGGGATTCCTGC	0.453																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(931-933)Cgg>Tgg		transcription termination factor, RNA polymerase I							132.0	127.0	129.0					9																	135277278		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277278G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.931C>T	9.37:g.135277278G>A	ENSP00000333920:p.Arg311Trp						p.R311W	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	970	-		Myeloproliferative disorder(178;0.204)	311					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.931C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	6.335	0.429946	0.11987	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10763	2.84	2.41	-1.47	0.08772	.	.	.	.	.	T	0.06645	0.0170	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35968	-0.9767	9	0.66056	D	0.02	.	5.2701	0.15620	0.6644:0.0:0.3356:0.0	.	311	Q15361	TTF1_HUMAN	W	311	ENSP00000333920:R311W	ENSP00000245588:R311W	R	-	1	2	TTF1	134267099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.278000	0.08490	-0.277000	0.09193	-0.373000	0.07131	CGG		0.453	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		62	92	0	0	0	1	0	62	92				
COL6A1	1291	broad.mit.edu	37	21	47422182	47422182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47422182C>T	ENST00000361866.3	+	32	2231	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	706	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		ACGGGGGAGGCCCTGCAGTAC	0.682																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2116-2118)gCc>gTc		collagen, type VI, alpha 1	Palifermin(DB00039)						13.0	12.0	13.0					21																	47422182		2186	4281	6467	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422182C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2117C>T	21.37:g.47422182C>T	ENSP00000355180:p.Ala706Val					COL6A1_ENST00000498614.1_3'UTR	p.A706V	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2231	+	all_hematologic(128;0.24)		706			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2117C>T	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267328	0.80469	.	.	ENSG00000142156	ENST00000361866	D	0.90620	-2.7	4.73	4.73	0.59995	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.96346	0.8808	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97453	1.0029	10	0.87932	D	0	-18.4592	17.7009	0.88294	0.0:1.0:0.0:0.0	.	706	P12109	CO6A1_HUMAN	V	706	ENSP00000355180:A706V	ENSP00000355180:A706V	A	+	2	0	COL6A1	46246610	1.000000	0.71417	0.868000	0.34077	0.222000	0.24845	7.064000	0.76721	2.194000	0.70268	0.462000	0.41574	GCC		0.682	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		4	0	0	0	0	1	0	4	0				
PLA2G6	8398	broad.mit.edu	37	22	38539144	38539144	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38539144C>T	ENST00000332509.3	-	4	760	c.577G>A	c.(577-579)Gct>Act	p.A193T	PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Missense_Mutation_p.A193T|PLA2G6_ENST00000335539.3_Missense_Mutation_p.A193T	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	193					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCCTGGACAGCATAATGGAAG	0.597																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(577-579)Gct>Act		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						337.0	292.0	307.0					22																	38539144		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38539144C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.577G>A	22.37:g.38539144C>T	ENSP00000333142:p.Ala193Thr					PLA2G6_ENST00000335539.3_Missense_Mutation_p.A193T|PLA2G6_ENST00000402064.1_Missense_Mutation_p.A193T	p.A193T	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			4	760	-	Melanoma(58;0.045)		193					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.577G>A	CCDS13967.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.4|23.4|23.4	4.414373|4.414373|4.414373	0.83449|0.83449|0.83449	.|.|.	.|.|.	ENSG00000184381|ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000430886|ENST00000427114|ENST00000451461;ENST00000452542	T;T;T;T|.|.	0.81163|.|.	-0.69;-0.69;-0.69;-1.46|.|.	6.03|6.03|6.03	6.03|6.03|6.03	0.97812|0.97812|0.97812	Ankyrin repeat-containing domain (3);|.|.	0.096640|.|.	0.64402|.|.	D|.|.	0.000001|.|.	T|T|T	0.59959|0.59959|0.59959	0.2232|0.2232|0.2232	L|L|L	0.60455|0.60455|0.60455	1.87|1.87|1.87	0.37271|0.37271|0.37271	D|D|D	0.907413|0.907413|0.907413	D;D|.|B	0.89917|.|0.30563	1.0;1.0|.|0.285	D;D|.|B	0.87578|.|0.28916	0.998;0.996|.|0.096	T|T|T	0.59177|0.59177|0.59177	-0.7503|-0.7503|-0.7503	10|5|8	0.66056|.|0.19147	D|.|T	0.02|.|0.46	-18.3262|-18.3262|-18.3262	18.7374|18.7374|18.7374	0.91761|0.91761|0.91761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	193;193|.|220	O60733-2;O60733|.|B7Z6K3	.;PA2G6_HUMAN|.|.	T|Y|I	193;193;193;121;193;121|60|220;26	ENSP00000333142:A193T;ENSP00000335149:A193T;ENSP00000386100:A193T;ENSP00000395464:A121T|.|.	ENSP00000333142:A193T|.|ENSP00000405613:M220I	A|C|M	-|-|-	1|2|3	0|0|0	PLA2G6|PLA2G6|PLA2G6	36869090|36869090|36869090	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.319000|0.319000|0.319000	0.25293|0.25293|0.25293	0.962000|0.962000|0.962000	0.63368|0.63368|0.63368	6.841000|6.841000|6.841000	0.75374|0.75374|0.75374	2.861000|2.861000|2.861000	0.98227|0.98227|0.98227	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|TGC|ATG		0.597	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		117	192	0	0	0	1	0	117	192				
ST13	6767	broad.mit.edu	37	22	41231859	41231859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231859C>A	ENST00000216218.3	-	6	896	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	139					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTGATGGCATCTGTGAATAAG	0.383																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(415-417)Gat>Tat		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							53.0	55.0	55.0					22																	41231859		2203	4299	6502	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41231859C>A		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.415G>T	22.37:g.41231859C>A	ENSP00000216218:p.Asp139Tyr						p.D139Y	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			6	896	-			139					O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.415G>T	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655238	0.88056	.	.	ENSG00000100380	ENST00000216218;ENST00000401032;ENST00000411695	T;T	0.59772	0.24;0.24	5.64	5.64	0.86602	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.093512	0.85682	D	0.000000	T	0.70237	0.3201	L	0.42245	1.32	0.80722	D	1	D;D	0.71674	0.99;0.998	P;D	0.68943	0.905;0.961	T	0.71971	-0.4431	10	0.87932	D	0	.	18.4882	0.90836	0.0:1.0:0.0:0.0	.	129;139	B4E0U6;P50502	.;F10A1_HUMAN	Y	139;139;102	ENSP00000216218:D139Y;ENSP00000392067:D102Y	ENSP00000216218:D139Y	D	-	1	0	ST13	39561805	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.650000	0.74368	2.673000	0.90976	0.650000	0.86243	GAT		0.383	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		4	59	1	0	0.00024832	1	0.0002712	4	59				
MCMBP	79892	broad.mit.edu	37	10	121587087	121587087	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121587087G>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.S455N|INPP5F_ENST00000361976.2_Missense_Mutation_p.S1065N	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGCAGTAGCAGCAGAGCAGTC	0.483																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(3193-3195)aGc>aAc		inositol polyphosphate-5-phosphatase F							103.0	102.0	102.0					10																	121587087		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121587087G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587087G>A						INPP5F_ENST00000369080.3_Missense_Mutation_p.S455N	p.S1065N	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	3360	+		Lung NSC(174;0.109)|all_lung(145;0.142)	1065					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.3194G>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833133	0.91036	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.59638	0.68;0.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74943	0.3783	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.986	T	0.74621	-0.3604	10	0.66056	D	0.02	-19.1615	20.3248	0.98698	0.0:0.0:1.0:0.0	.	455;1065	Q5W135;Q9Y2H2	.;SAC2_HUMAN	N	1065;455	ENSP00000354519:S1065N;ENSP00000358076:S455N	ENSP00000354519:S1065N	S	+	2	0	INPP5F	121577077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.607000	0.82883	2.818000	0.97014	0.655000	0.94253	AGC		0.483	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		41	74	0	0	0	1	0	41	74				
TBC1D23	55773	broad.mit.edu	37	3	100015051	100015051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100015051G>T	ENST00000394144.4	+	8	815	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Nonsense_Mutation_p.E270*|TBC1D23_ENST00000475134.1_Nonsense_Mutation_p.E133*	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	270					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCTGAATATAGAAGATATAGA	0.323																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(808-810)Gaa>Taa		TBC1 domain family, member 23							80.0	90.0	87.0					3																	100015051		2203	4298	6501	SO:0001587	stop_gained	55773					intracellular	Rab GTPase activator activity	g.chr3:100015051G>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.808G>T	3.37:g.100015051G>T	ENSP00000377700:p.Glu270*					TBC1D23_ENST00000344949.5_Nonsense_Mutation_p.E270*|TBC1D23_ENST00000475134.1_Nonsense_Mutation_p.E133*|TBC1D23_ENST00000486274.1_3'UTR	p.E270*	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			8	815	+			270					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Nonsense_Mutation	SNP	ENST00000394144.4	37	c.808G>T	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074264	0.97262	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6376	0.95740	0.0:0.0:1.0:0.0	.	.	.	.	X	270;270;133	.	.	E	+	1	0	TBC1D23	101497741	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.130000	0.94437	2.643000	0.89663	0.467000	0.42956	GAA		0.323	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		26	57	1	0	2.70662e-09	1	3.28559e-09	26	57				
NFATC4	4776	broad.mit.edu	37	14	24842970	24842970	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842970C>T	ENST00000250373.4	+	5	1770	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	NFATC4_ENST00000556759.1_Silent_p.I78I|NFATC4_ENST00000555167.1_Silent_p.I78I|NFATC4_ENST00000424781.2_Silent_p.I556I|NFATC4_ENST00000557451.1_Silent_p.I473I|NFATC4_ENST00000556279.1_Silent_p.I575I|NFATC4_ENST00000554050.1_Silent_p.I543I|NFATC4_ENST00000539237.2_Silent_p.I575I|NFATC4_ENST00000554661.1_Silent_p.I473I|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554473.1_Silent_p.I78I|NFATC4_ENST00000553708.1_Silent_p.I543I|NFATC4_ENST00000554591.1_Silent_p.I606I|NFATC4_ENST00000555590.1_Silent_p.I556I|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555453.1_Silent_p.I531I|NFATC4_ENST00000422617.3_Silent_p.I531I|NFATC4_ENST00000553879.1_Silent_p.I473I|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000556169.1_Silent_p.I531I|NFATC4_ENST00000554344.1_Silent_p.I473I|NFATC4_ENST00000413692.2_Silent_p.I606I|NFATC4_ENST00000553469.1_Silent_p.I575I|NFATC4_ENST00000554966.1_Silent_p.I556I	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	543	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGACGGACATCGGGCGCAAAA	0.597																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1816-1818)atC>atT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							103.0	99.0	101.0					14																	24842970		2203	4300	6503	SO:0001819	synonymous_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24842970C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1629C>T	14.37:g.24842970C>T						NFATC4_ENST00000422617.3_Silent_p.I531I|NFATC4_ENST00000553879.1_Silent_p.I473I|NFATC4_ENST00000554473.1_Silent_p.I78I|NFATC4_ENST00000554591.1_Silent_p.I606I|NFATC4_ENST00000554966.1_Silent_p.I556I|NFATC4_ENST00000555590.1_Silent_p.I556I|NFATC4_ENST00000424781.2_Silent_p.I556I|NFATC4_ENST00000555167.1_Silent_p.I78I|NFATC4_ENST00000553469.1_Silent_p.I575I|NFATC4_ENST00000553708.1_Silent_p.I543I|NFATC4_ENST00000554050.1_Silent_p.I543I|NFATC4_ENST00000556759.1_Silent_p.I78I|NFATC4_ENST00000539237.2_Silent_p.I575I|NFATC4_ENST00000554661.1_Silent_p.I473I|NFATC4_ENST00000250373.4_Silent_p.I543I|NFATC4_ENST00000554344.1_Silent_p.I473I|NFATC4_ENST00000555453.1_Silent_p.I531I|NFATC4_ENST00000556169.1_Silent_p.I531I|NFATC4_ENST00000556279.1_Silent_p.I575I|NFATC4_ENST00000557451.1_Silent_p.I473I	p.I606I	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	6	1962	+			543			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	c.1818C>T	CCDS9629.1																																																																																				0.597	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		33	47	0	0	0	1	0	33	47				
OR8U1	219417	broad.mit.edu	37	11	56143597	56143597	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56143597C>T	ENST00000302270.1	+	1	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CCTTCCGCCTCTCCTATTGCC	0.453																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(496-498)ctC>ctT		olfactory receptor, family 8, subfamily U, member 1							227.0	218.0	221.0					11																	56143597		2106	4225	6331	SO:0001819	synonymous_variant	219417							g.chr11:56143597C>T	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.498C>T	11.37:g.56143597C>T							p.L166L	NM_001005204.1	NP_001005204.1					1	498	+	Esophageal squamous(21;0.00448)								Silent	SNP	ENST00000302270.1	37	c.498C>T	CCDS41647.1																																																																																				0.453	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		56	156	0	0	0	1	0	56	156				
ZNF510	22869	broad.mit.edu	37	9	99521449	99521449	+	Nonsense_Mutation	SNP	G	G	A	rs377426198		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99521449G>A	ENST00000375231.1	-	6	2313	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.R555*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGATCTTTTCGCCAGAAGGAT	0.413																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1663-1665)Cga>Tga		zinc finger protein 510							109.0	110.0	109.0					9																	99521449		2203	4299	6502	SO:0001587	stop_gained	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521449G>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1663C>T	9.37:g.99521449G>A	ENSP00000364379:p.Arg555*					ZNF510_ENST00000223428.4_Nonsense_Mutation_p.R555*	p.R555*			Q9Y2H8	ZN510_HUMAN			6	2313	-		Acute lymphoblastic leukemia(62;0.0527)	555					Q5SZP5	Nonsense_Mutation	SNP	ENST00000375231.1	37	c.1663C>T	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	G	42	9.276440	0.99122	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	3.02	1.17	0.20885	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	2.6148	0.04901	0.2579:0.0:0.5122:0.2299	.	.	.	.	X	555	.	ENSP00000223428:R555X	R	-	1	2	ZNF510	98561270	0.000000	0.05858	0.363000	0.25875	0.978000	0.69477	-1.567000	0.02146	0.314000	0.23086	-0.136000	0.14681	CGA		0.413	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		51	88	0	0	0	1	0	51	88				
CHST10	9486	broad.mit.edu	37	2	101010027	101010027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101010027A>G	ENST00000264249.3	-	7	1136	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	CHST10_ENST00000542617.1_Missense_Mutation_p.W299R|CHST10_ENST00000409701.1_Missense_Mutation_p.W251R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	251					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGTCTAGCCATCTGTGGTTC	0.522																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(751-753)Tgg>Cgg		carbohydrate sulfotransferase 10							260.0	238.0	245.0					2																	101010027		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010027A>G	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.751T>C	2.37:g.101010027A>G	ENSP00000264249:p.Trp251Arg					CHST10_ENST00000542617.1_Missense_Mutation_p.W299R|CHST10_ENST00000409701.1_Missense_Mutation_p.W251R	p.W251R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1136	-			251					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.751T>C	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	A	4.655	0.121708	0.08931	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.72615	1.93;-0.67;1.93	5.91	2.34	0.29019	.	0.294083	0.39687	N	0.001297	T	0.34919	0.0914	N	0.01297	-0.9	0.38677	D	0.952454	B	0.06786	0.001	B	0.09377	0.004	T	0.19976	-1.0289	10	0.07813	T	0.8	-8.9733	9.0282	0.36243	0.7929:0.0:0.2071:0.0	.	251	O43529	CHSTA_HUMAN	R	251;299;251	ENSP00000264249:W251R;ENSP00000438869:W299R;ENSP00000387309:W251R	ENSP00000264249:W251R	W	-	1	0	CHST10	100376459	0.999000	0.42202	0.764000	0.31436	0.977000	0.68977	3.630000	0.54273	0.511000	0.28236	0.533000	0.62120	TGG		0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		15	165	0	0	0	1	0	15	165				
SACS	26278	broad.mit.edu	37	13	23909491	23909491	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23909491T>C	ENST00000382292.3	-	9	8797	c.8524A>G	c.(8524-8526)Aac>Gac	p.N2842D	SACS_ENST00000402364.1_Missense_Mutation_p.N2092D|SACS_ENST00000382298.3_Missense_Mutation_p.N2842D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2842					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATCTTGGTTCTTGTGAGCT	0.393																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8524-8526)Aac>Gac		spastic ataxia of Charlevoix-Saguenay (sacsin)							90.0	87.0	88.0					13																	23909491		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909491T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8524A>G	13.37:g.23909491T>C	ENSP00000371729:p.Asn2842Asp					SACS_ENST00000382292.3_Missense_Mutation_p.N2842D|SACS_ENST00000402364.1_Missense_Mutation_p.N2092D	p.N2842D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9112	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2842					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8524A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033378	0.75504	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87334	-2.09;-2.24;-2.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.86952	0.6057	L	0.36672	1.1	0.43555	D	0.995866	D	0.63880	0.993	P	0.55923	0.787	D	0.83857	0.0266	10	0.14656	T	0.56	.	15.58	0.76425	0.0:0.0:0.0:1.0	.	2842	Q9NZJ4	SACS_HUMAN	D	2842;2092;2842	ENSP00000371729:N2842D;ENSP00000385844:N2092D;ENSP00000371735:N2842D	ENSP00000371729:N2842D	N	-	1	0	SACS	22807491	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.084000	0.62774	0.449000	0.29647	AAC		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		6	82	0	0	0	1	0	6	82				
TMEM184C	55751	broad.mit.edu	37	4	148555495	148555495	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148555495T>C	ENST00000296582.3	+	10	1801	c.1227T>C	c.(1225-1227)acT>acC	p.T409T	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	409						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTCCCCAGACTACACCTACCA	0.423																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1225-1227)acT>acC		transmembrane protein 184C							101.0	96.0	98.0					4																	148555495		2203	4300	6503	SO:0001819	synonymous_variant	55751					integral to membrane		g.chr4:148555495T>C	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1227T>C	4.37:g.148555495T>C						TMEM184C_ENST00000508208.1_Intron	p.T409T	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			10	1801	+			409					D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	37	c.1227T>C	CCDS3770.1																																																																																				0.423	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		14	73	0	0	0	1	0	14	73				
CDHR2	54825	broad.mit.edu	37	5	176003072	176003072	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176003072C>A	ENST00000510636.1	+	12	1354	c.1080C>A	c.(1078-1080)gcC>gcA	p.A360A	CDHR2_ENST00000261944.5_Silent_p.A360A|CDHR2_ENST00000506348.1_Silent_p.A360A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	360					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCCAGCCTGCACCTTCA	0.577																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1078-1080)gcC>gcA		cadherin-related family member 2							117.0	98.0	104.0					5																	176003072		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003072C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1080C>A	5.37:g.176003072C>A						CDHR2_ENST00000506348.1_Silent_p.A360A|CDHR2_ENST00000261944.5_Silent_p.A360A	p.A360A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			12	1354	+			360					A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1080C>A	CCDS34297.1																																																																																				0.577	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		5	29	1	0	0.184627	1	0.186383	5	29				
MRPL2	51069	broad.mit.edu	37	6	43023921	43023921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43023921C>T	ENST00000388752.3	-	4	842	c.418G>A	c.(418-420)Gct>Act	p.A140T	CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000489623.1_Intron|CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000230413.5_Missense_Mutation_p.A140T	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	140					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GCAACCAGAGCTATGTCTGCT	0.522																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(418-420)Gct>Act		mitochondrial ribosomal protein L2							115.0	105.0	108.0					6																	43023921		2203	4300	6503	SO:0001583	missense	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023921C>T	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.418G>A	6.37:g.43023921C>T	ENSP00000373404:p.Ala140Thr					MRPL2_ENST00000230413.5_Missense_Mutation_p.A140T|MRPL2_ENST00000489623.1_Intron	p.A140T	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	4	842	-		Ovarian(999;0.0014)	140					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	37	c.418G>A	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608115	0.96626	.	.	ENSG00000112651	ENST00000388752;ENST00000230413	T	0.68624	-0.34	5.7	5.7	0.88788	Nucleic acid-binding, OB-fold-like (1);Ribosomal Proteins L2, RNA binding domain (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91969	0.5585	10	0.87932	D	0	-12.812	18.0157	0.89239	0.0:1.0:0.0:0.0	.	140;140	B4DVE2;Q5T653	.;RM02_HUMAN	T	140	ENSP00000373404:A140T	ENSP00000230413:A140T	A	-	1	0	MRPL2	43131899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.384000	0.79751	2.687000	0.91594	0.655000	0.94253	GCT		0.522	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			21	41	0	0	0	1	0	21	41				
CCT5	22948	broad.mit.edu	37	5	10254913	10254913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10254913G>T	ENST00000280326.4	+	3	714	c.294G>T	c.(292-294)caG>caT	p.Q98H	CCT5_ENST00000515390.1_Intron|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000503026.1_Missense_Mutation_p.Q77H|CCT5_ENST00000515676.1_Missense_Mutation_p.Q60H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	98					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCAAGTCTCAGGATGATGAAA	0.428																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(292-294)caG>caT		chaperonin containing TCP1, subunit 5 (epsilon)							141.0	122.0	129.0					5																	10254913		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10254913G>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.294G>T	5.37:g.10254913G>T	ENSP00000280326:p.Gln98His					CCT5_ENST00000515676.1_Missense_Mutation_p.Q60H|CCT5_ENST00000503026.1_Missense_Mutation_p.Q77H|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron	p.Q98H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			3	714	+			98					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.294G>T	CCDS3877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.51|19.51	3.842007|3.842007	0.71488|0.71488	.|.	.|.	ENSG00000150753|ENSG00000150753	ENST00000440011|ENST00000280326;ENST00000503026;ENST00000515676	.|T;T;T	.|0.80824	.|-1.42;-1.42;-1.42	5.64|5.64	3.84|3.84	0.44239|0.44239	.|Chaperonin TCP-1, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.91650	.|0.7361	H|H	0.96460|0.96460	3.825|3.825	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.53312	.|0.959;0.959;0.959	.|D;D;D	.|0.66351	.|0.943;0.943;0.943	.|D	.|0.93063	.|0.6476	.|10	.|0.87932	.|D	.|0	.|-27.0285	11.1959|11.1959	0.48713|0.48713	0.2062:0.0:0.7938:0.0|0.2062:0.0:0.7938:0.0	.|.	.|96;98;98	.|Q9BU08;A8K2X8;P48643	.|.;.;TCPE_HUMAN	.|H	-1|98;77;60	.|ENSP00000280326:Q98H;ENSP00000423318:Q77H;ENSP00000427297:Q60H	.|ENSP00000280326:Q98H	.|Q	+|+	.|3	.|2	CCT5|CCT5	10307913|10307913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.893000|0.893000	0.28336|0.28336	1.388000|1.388000	0.46506|0.46506	-0.151000|-0.151000	0.13558|0.13558	.|CAG		0.428	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			4	93	1	0	2.56e-06	1	2.9446e-06	4	93				
ADHFE1	137872	broad.mit.edu	37	8	67355048	67355048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67355048C>A	ENST00000396623.3	+	3	144	c.113C>A	c.(112-114)cCt>cAt	p.P38H	ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.P38H|ADHFE1_ENST00000496501.1_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	38					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGACTTTCACCTTCTGGGAAA	0.303																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(112-114)cCt>cAt		alcohol dehydrogenase, iron containing, 1							100.0	92.0	94.0					8																	67355048		1796	4068	5864	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67355048C>A	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.113C>A	8.37:g.67355048C>A	ENSP00000379865:p.Pro38His					ADHFE1_ENST00000379385.4_Missense_Mutation_p.P38H|ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000496501.1_Intron	p.P38H	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		3	144	+		Lung NSC(129;0.197)	38					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.113C>A	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200404	0.58126	.	.	ENSG00000147576	ENST00000379385;ENST00000396623	T	0.47177	0.85	6.02	6.02	0.97574	.	0.813631	0.10464	U	0.671647	T	0.44456	0.1294	L	0.46819	1.47	0.31508	N	0.663992	B	0.06786	0.001	B	0.06405	0.002	T	0.39078	-0.9631	10	0.42905	T	0.14	0.5072	12.4228	0.55529	0.0:0.9235:0.0:0.0765	.	38	Q8IWW8	HOT_HUMAN	H	38	ENSP00000379865:P38H	ENSP00000368695:P38H	P	+	2	0	ADHFE1	67517602	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	3.475000	0.53136	2.865000	0.98341	0.655000	0.94253	CCT		0.303	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		19	48	1	0	1.22574e-08	1	1.47244e-08	19	48				
OR6N2	81442	broad.mit.edu	37	1	158747053	158747053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747053C>T	ENST00000339258.1	-	1	372	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CGACAAATGGCCAGGTATCTA	0.502																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(373-375)Gcc>Acc		olfactory receptor, family 6, subfamily N, member 2							95.0	96.0	95.0					1																	158747053		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747053C>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.373G>A	1.37:g.158747053C>T	ENSP00000344101:p.Ala125Thr						p.A125T	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	372	-	all_hematologic(112;0.0378)		125					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.373G>A	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005669	0.93287	.	.	ENSG00000188340	ENST00000339258	T	0.00912	5.55	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001764	T	0.06735	0.0172	H	0.95328	3.655	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.01626	-1.1309	10	0.87932	D	0	-17.6358	17.5939	0.88005	0.0:1.0:0.0:0.0	.	125	Q8NGY6	OR6N2_HUMAN	T	125	ENSP00000344101:A125T	ENSP00000344101:A125T	A	-	1	0	OR6N2	157013677	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.500000	0.60387	2.686000	0.91538	0.650000	0.86243	GCC		0.502	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			46	25	0	0	0	1	0	46	25				
THBS1	7057	broad.mit.edu	37	15	39874935	39874935	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39874935C>T	ENST00000260356.5	+	3	774	c.609C>T	c.(607-609)ggC>ggT	p.G203G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	203	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAAAGGGGGGCGTCAATGACA	0.557																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(607-609)ggC>ggT		thrombospondin 1	Becaplermin(DB00102)						38.0	36.0	37.0					15																	39874935		2200	4296	6496	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874935C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.609C>T	15.37:g.39874935C>T							p.G203G	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	774	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	203			TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.609C>T	CCDS32194.1																																																																																				0.557	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		4	13	0	0	0	1	0	4	13				
TMC2	117532	broad.mit.edu	37	20	2592935	2592935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592935G>A	ENST00000358864.1	+	13	1707	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	564					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCACCCCTGCACCCTGCAG	0.493																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1690-1692)ctG>ctA		transmembrane channel-like 2							97.0	94.0	95.0					20																	2592935		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2592935G>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1692G>A	20.37:g.2592935G>A						TMC2_ENST00000496948.1_3'UTR	p.L564L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			13	1707	+			564					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1692G>A	CCDS13029.2																																																																																				0.493	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			9	81	0	0	0	1	0	9	81				
KLHL36	79786	broad.mit.edu	37	16	84695222	84695222	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695222T>C	ENST00000564996.1	+	5	1475	c.1334T>C	c.(1333-1335)tTc>tCc	p.F445S	KLHL36_ENST00000258157.5_Missense_Mutation_p.F382S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	445					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TACAAAGACTTCGTGTACATC	0.637																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1333-1335)tTc>tCc		kelch-like family member 36							84.0	79.0	81.0					16																	84695222		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84695222T>C	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1334T>C	16.37:g.84695222T>C	ENSP00000456743:p.Phe445Ser					KLHL36_ENST00000258157.5_Missense_Mutation_p.F382S	p.F445S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1475	+			445					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.1334T>C	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481414	0.44147	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65549	-0.16	5.66	4.51	0.55191	Kelch-type beta propeller (1);	0.114416	0.64402	D	0.000012	T	0.52240	0.1722	L	0.46157	1.445	0.25733	N	0.98525	B;B	0.27679	0.185;0.002	B;B	0.26969	0.075;0.005	T	0.40156	-0.9578	10	0.22706	T	0.39	.	11.7585	0.51888	0.0:0.0:0.1469:0.8531	.	382;445	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	S	445;382	ENSP00000258157:F382S	ENSP00000258157:F382S	F	+	2	0	KLHL36	83252723	0.991000	0.36638	0.963000	0.40424	0.962000	0.63368	3.223000	0.51231	2.154000	0.67381	0.533000	0.62120	TTC		0.637	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			7	71	0	0	0	1	0	7	71				
LUZP1	7798	broad.mit.edu	37	1	23420599	23420599	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23420599A>G	ENST00000302291.4	-	4	957	c.156T>C	c.(154-156)atT>atC	p.I52I	LUZP1_ENST00000374623.3_Silent_p.I52I|LUZP1_ENST00000314174.5_Silent_p.I52I|LUZP1_ENST00000418342.1_Silent_p.I52I			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	52					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTGCCTGAATCACCTTGT	0.517																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(154-156)atT>atC		leucine zipper protein 1							128.0	131.0	130.0					1																	23420599		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23420599A>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.156T>C	1.37:g.23420599A>G						LUZP1_ENST00000314174.5_Silent_p.I52I|LUZP1_ENST00000374623.3_Silent_p.I52I|LUZP1_ENST00000418342.1_Silent_p.I52I	p.I52I			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	957	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	52					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.156T>C	CCDS30628.1																																																																																				0.517	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		11	111	0	0	0	1	0	11	111				
PFAS	5198	broad.mit.edu	37	17	8159164	8159164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8159164C>T	ENST00000314666.6	+	6	749	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	206					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTACACCAAGCGCTTCCAGGA	0.537																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(616-618)Cgc>Tgc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						102.0	100.0	100.0					17																	8159164		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8159164C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.616C>T	17.37:g.8159164C>T	ENSP00000313490:p.Arg206Cys					PFAS_ENST00000545834.1_5'UTR	p.R206C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			6	749	+			206					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.616C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317646	0.60524	.	.	ENSG00000178921	ENST00000314666	T	0.29142	1.58	5.68	4.7	0.59300	.	0.121545	0.56097	D	0.000032	T	0.23649	0.0572	L	0.29908	0.895	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.03576	-1.1023	10	0.54805	T	0.06	-17.8193	12.9228	0.58243	0.0:0.9192:0.0:0.0808	.	206	O15067	PUR4_HUMAN	C	206	ENSP00000313490:R206C	ENSP00000313490:R206C	R	+	1	0	PFAS	8099889	0.977000	0.34250	1.000000	0.80357	0.963000	0.63663	2.535000	0.45685	2.677000	0.91161	0.563000	0.77884	CGC		0.537	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			20	54	0	0	0	1	0	20	54				
C16orf70	80262	broad.mit.edu	37	16	67154083	67154083	+	Missense_Mutation	SNP	C	C	A	rs200715975		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67154083C>A	ENST00000219139.3	+	2	321	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.L45I	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	45										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGTCCAGGTTCTCTACAGTGA	0.463																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(133-135)Ctc>Atc		chromosome 16 open reading frame 70							176.0	160.0	165.0					16																	67154083		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67154083C>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.133C>A	16.37:g.67154083C>A	ENSP00000219139:p.Leu45Ile					C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.L45I	p.L45I	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	2	321	+		Ovarian(137;0.192)	45					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.133C>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194917	0.58017	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	N	0.16743	0.435	0.80722	D	1	B;B	0.30793	0.092;0.295	B;B	0.32624	0.067;0.149	T	0.30995	-0.9959	9	0.16896	T	0.51	-11.1429	17.9715	0.89115	0.0:1.0:0.0:0.0	.	23;45	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	I	45	.	ENSP00000219139:L45I	L	+	1	0	C16orf70	65711584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	2.840000	0.97914	0.655000	0.94253	CTC		0.463	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		45	49	1	0	1.35964e-18	1	1.77519e-18	45	49				
LNX1	84708	broad.mit.edu	37	4	54362284	54362284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54362284C>T	ENST00000263925.7	-	6	1570	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	LNX1_ENST00000306888.2_Missense_Mutation_p.R323Q|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	419	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGACCATGTCGATATGCCAC	0.507																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(967-969)cGa>cAa		ligand of numb-protein X 1, E3 ubiquitin protein ligase							156.0	131.0	139.0					4																	54362284		2203	4300	6503	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54362284C>T	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1256G>A	4.37:g.54362284C>T	ENSP00000263925:p.Arg419Gln					LNX1_ENST00000263925.7_Missense_Mutation_p.R419Q|FIP1L1_ENST00000507166.1_Intron	p.R323Q	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1219	-	all_neural(26;0.153)		419			PDZ 1.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.968G>A	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238335	0.39598	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.29397	1.57;1.57	5.09	5.09	0.68999	PDZ/DHR/GLGF (4);	0.114744	0.64402	N	0.000016	T	0.44540	0.1298	L	0.35854	1.095	0.58432	D	0.999998	D;P	0.89917	1.0;0.867	D;B	0.91635	0.999;0.358	T	0.09751	-1.0660	10	0.11794	T	0.64	.	18.685	0.91560	0.0:1.0:0.0:0.0	.	419;323	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	Q	323;257;419	ENSP00000302879:R323Q;ENSP00000263925:R419Q	ENSP00000263925:R419Q	R	-	2	0	LNX1	54057041	0.988000	0.35896	0.471000	0.27229	0.439000	0.31926	3.659000	0.54489	2.651000	0.90000	0.491000	0.48974	CGA		0.507	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			36	54	0	0	0	1	0	36	54				
GPR116	221395	broad.mit.edu	37	6	46826811	46826811	+	Silent	SNP	C	C	T	rs144073167		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826811C>T	ENST00000283296.7	-	17	3117	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	GPR116_ENST00000456426.2_Silent_p.K801K|GPR116_ENST00000362015.4_Silent_p.K943K|GPR116_ENST00000545669.1_Silent_p.K372K|GPR116_ENST00000265417.7_Silent_p.K943K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	943					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2827-2829)aaG>aaA		G protein-coupled receptor 116		C	,	1,4405	2.1+/-5.4	0,1,2202	108.0	100.0	103.0		2829,2829	2.5	1.0	6	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPR116	NM_001098518.1,NM_015234.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	943/1347,943/1347	46826811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826811C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2829G>A	6.37:g.46826811C>T						GPR116_ENST00000265417.7_Silent_p.K943K|GPR116_ENST00000456426.2_Silent_p.K801K|GPR116_ENST00000362015.4_Silent_p.K943K|GPR116_ENST00000545669.1_Silent_p.K372K	p.K943K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3117	-			943					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2829G>A	CCDS4919.1																																																																																				0.473	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		36	56	0	0	0	1	0	36	56				
ZFP82	284406	broad.mit.edu	37	19	36884580	36884580	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36884580G>T	ENST00000392161.3	-	5	904	c.662C>A	c.(661-663)tCt>tAt	p.S221Y	ZFP82_ENST00000392171.1_Missense_Mutation_p.S221Y	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTCACCAGAATGAAGTCT	0.413																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(661-663)tCt>tAt		ZFP82 zinc finger protein							113.0	109.0	110.0					19																	36884580		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884580G>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.662C>A	19.37:g.36884580G>T	ENSP00000431265:p.Ser221Tyr					ZFP82_ENST00000392171.1_Missense_Mutation_p.S221Y	p.S221Y	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	904	-			221					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.662C>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945643	0.53079	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.19938	2.11;2.11	4.47	3.44	0.39384	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.369523	0.20054	N	0.100239	T	0.43964	0.1271	M	0.80183	2.485	0.31651	N	0.646801	D	0.58970	0.984	D	0.65323	0.934	T	0.55321	-0.8159	10	0.87932	D	0	.	10.2284	0.43241	0.098:0.0:0.902:0.0	.	221	Q8N141	ZFP82_HUMAN	Y	221	ENSP00000431265:S221Y;ENSP00000446080:S221Y	ENSP00000431265:S221Y	S	-	2	0	ZFP82	41576420	0.073000	0.21202	1.000000	0.80357	0.998000	0.95712	1.205000	0.32308	1.100000	0.41517	0.655000	0.94253	TCT		0.413	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		4	102	1	0	1	1	1	4	102				
ZDBF2	57683	broad.mit.edu	37	2	207175566	207175566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207175566C>T	ENST00000374423.3	+	5	6700	c.6314C>T	c.(6313-6315)gCg>gTg	p.A2105V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2105							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A2105V(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGCTTCAGCGCCTTTAATG	0.443																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.A2105V(2)	large_intestine(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6313-6315)gCg>gTg		zinc finger, DBF-type containing 2							67.0	66.0	66.0					2																	207175566		1891	4124	6015	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175566C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6314C>T	2.37:g.207175566C>T	ENSP00000363545:p.Ala2105Val						p.A2105V	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	6700	+			2105					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6314C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	6.816	0.519637	0.13005	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.95	1.17	0.20885	.	.	.	.	.	T	0.14570	0.0352	N	0.00926	-1.1	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.29027	-1.0025	9	0.23302	T	0.38	.	8.8754	0.35343	0.0:0.7087:0.0:0.2913	.	2105	Q9HCK1	ZDBF2_HUMAN	V	2105	ENSP00000363545:A2105V	ENSP00000363545:A2105V	A	+	2	0	ZDBF2	206883811	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.498000	0.06420	-0.004000	0.14419	-1.008000	0.02478	GCG		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		25	45	0	0	0	1	0	25	45				
CCBE1	147372	broad.mit.edu	37	18	57134065	57134065	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:57134065G>T	ENST00000439986.4	-	5	496	c.459C>A	c.(457-459)acC>acA	p.T153T	RP11-27G24.3_ENST00000589242.1_RNA|CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	153	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGCTGCCCAAGGTATTGATGC	0.488																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(457-459)acC>acA		collagen and calcium binding EGF domains 1							140.0	123.0	129.0					18																	57134065		2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57134065G>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.459C>A	18.37:g.57134065G>T						CCBE1_ENST00000398179.2_5'UTR	p.T153T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			5	496	-		Colorectal(73;0.175)	153			EGF-like; calcium-binding (Potential).		Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	37	c.459C>A	CCDS32838.1																																																																																				0.488	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		8	98	1	0	0.000157383	1	0.00017284	8	98				
PRAMEF1	65121	broad.mit.edu	37	1	12856088	12856088	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12856088C>A	ENST00000332296.7	+	4	1471	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	PRAMEF1_ENST00000400814.3_Silent_p.P211P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	456					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCACCCCCTGCCCTTCCT	0.557																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1366-1368)ccC>ccA		PRAME family member 1							58.0	65.0	62.0					1																	12856088		2201	4294	6495	SO:0001819	synonymous_variant	65121							g.chr1:12856088C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1368C>A	1.37:g.12856088C>A						PRAMEF1_ENST00000400814.3_Silent_p.P211P	p.P456P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1471	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	456					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.1368C>A	CCDS148.1																																																																																				0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		15	183	1	0	1.66031e-10	1	2.04717e-10	15	183				
PHB2	11331	broad.mit.edu	37	12	7077078	7077078	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7077078G>T	ENST00000535923.1	-	5	865	c.584C>A	c.(583-585)gCt>gAt	p.A195D	PHB2_ENST00000440277.1_Missense_Mutation_p.A195D|U47924.29_ENST00000606539.1_RNA|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'Flank|SCARNA12_ENST00000459155.1_RNA|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000399433.2_Missense_Mutation_p.A195D|PHB2_ENST00000542912.1_Missense_Mutation_p.A195D	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						TTCTACAGCAGCTGTGTACTC	0.582																																						ENST00000535923.1																			0				ovary(2)|pancreas(1)	3						c.(583-585)gCt>gAt		prohibitin 2							168.0	176.0	173.0					12																	7077078		2042	4193	6235	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7077078G>T	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.584C>A	12.37:g.7077078G>T	ENSP00000441875:p.Ala195Asp					PHB2_ENST00000440277.1_Missense_Mutation_p.A195D|PHB2_ENST00000399433.2_Missense_Mutation_p.A195D|PHB2_ENST00000542912.1_Missense_Mutation_p.A195D|PHB2_ENST00000546111.1_Intron	p.A195D	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN			5	865	-			195						Missense_Mutation	SNP	ENST00000535923.1	37	c.584C>A	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671674	0.88348	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	4.98	4.98	0.66077	.	0.000000	0.85682	U	0.000000	D	0.96153	0.8746	L	0.59967	1.855	0.80722	D	1	P;D;D	0.57257	0.915;0.979;0.979	P;D;D	0.64877	0.703;0.93;0.93	D	0.95050	0.8186	10	0.33940	T	0.23	-3.759	18.4412	0.90667	0.0:0.0:1.0:0.0	.	195;195;195	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	D	195;195;195;195;231;206	ENSP00000441875:A195D;ENSP00000440317:A195D;ENSP00000382362:A195D;ENSP00000412856:A195D;ENSP00000441662:A231D;ENSP00000439029:A206D	ENSP00000382362:A195D	A	-	2	0	PHB2	6947339	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.171000	0.94802	2.582000	0.87167	0.655000	0.94253	GCT		0.582	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		16	200	1	0	1.99824e-07	1	2.35189e-07	16	200				
RBKS	64080	broad.mit.edu	37	2	28050435	28050435	+	Splice_Site	SNP	G	G	A	rs143709910		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28050435G>A	ENST00000302188.3	-	7	1546	c.794C>T	c.(793-795)aCg>aTg	p.T265M	RBKS_ENST00000444339.2_Splice_Site_p.T265M	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	265					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AAAACTTACCGTGGTATCCAC	0.383																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.e7+1		ribokinase		G	MET/THR	0,4406		0,0,2203	101.0	104.0	103.0		794	5.5	1.0	2	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	RBKS	NM_022128.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	265/323	28050435	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28050435G>A	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.795+1C>T	2.37:g.28050435G>A						RBKS_ENST00000444339.2_Splice_Site_p.T265_splice	p.T265_splice	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			7	1546	-	Acute lymphoblastic leukemia(172;0.155)		265					A9UK04|B4DV96	Splice_Site	SNP	ENST00000302188.3	37	c.795_splice	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578056	0.86645	0.0	1.16E-4	ENSG00000171174	ENST00000302188;ENST00000444339	D;D	0.81908	-1.55;-1.55	5.51	5.51	0.81932	Carbohydrate/purine kinase (1);Carbohydrate/puine kinase, PfkB, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.96946	0.9691	10	0.87932	D	0	-12.1457	19.399	0.94620	0.0:0.0:1.0:0.0	.	265;265	B4DV96;Q9H477	.;RBSK_HUMAN	M	265	ENSP00000306817:T265M;ENSP00000413232:T265M	ENSP00000306817:T265M	T	-	2	0	RBKS	27903939	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.087000	0.89521	2.580000	0.87095	0.491000	0.48974	ACG		0.383	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128	Missense_Mutation	27	43	0	0	0	1	0	27	43				
GPR98	84059	broad.mit.edu	37	5	90001396	90001396	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90001396G>T	ENST00000405460.2	+	37	8662	c.8566G>T	c.(8566-8568)Gga>Tga	p.G2856*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2856	Calx-beta 20. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGATCTCTAGGTTTGTGTTA	0.358																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.e37+1		G protein-coupled receptor 98							90.0	86.0	87.0					5																	90001396		1845	4093	5938	SO:0001630	splice_region_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90001396G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8566+1G>T	5.37:g.90001396G>T							p.G2856_splice	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	37	8662	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2856					O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	c.8566_splice	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	18.325835|18.325835	0.99903|0.99903	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	.|.	.|.	.|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	.|.	20.6013|20.6013	0.99457|0.99457	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	2856|421	.|.	ENSP00000296619:G2856X|.	G|X	+|+	1|3	0|2	GPR98|GPR98	90037152|90037152	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.407000|7.407000	0.80029|0.80029	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGA|TAG		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Nonsense_Mutation	7	42	1	0	1.26484e-09	1	1.54084e-09	7	42				
DACT1	51339	broad.mit.edu	37	14	59113639	59113639	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113639C>T	ENST00000335867.4	+	4	2322	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	DACT1_ENST00000541264.2_Silent_p.F485F|DACT1_ENST00000395153.3_Silent_p.F729F|DACT1_ENST00000556859.1_Silent_p.F485F			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	766					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGGGCGAGTTCGTGGGGGAGA	0.582																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(2185-2187)ttC>ttT		dishevelled-binding antagonist of beta-catenin 1							116.0	111.0	112.0					14																	59113639		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113639C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2298C>T	14.37:g.59113639C>T						DACT1_ENST00000556859.1_Silent_p.F485F|DACT1_ENST00000395151.3_Silent_p.F485F|DACT1_ENST00000335867.4_Silent_p.F766F|DACT1_ENST00000541264.2_Silent_p.F485F	p.F729F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2334	+			766					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.2187C>T	CCDS9736.1																																																																																				0.582	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		32	57	0	0	0	1	0	32	57				
CADPS	8618	broad.mit.edu	37	3	62385182	62385182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385182G>A	ENST00000383710.4	-	30	4310	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	CADPS_ENST00000357948.3_Missense_Mutation_p.R1242C|CADPS_ENST00000283269.9_Missense_Mutation_p.R1282C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1321	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACAGTGAGACGGTTCCGGATC	0.498																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3961-3963)Cgt>Tgt		Ca++-dependent secretion activator							187.0	163.0	171.0					3																	62385182		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62385182G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3961C>T	3.37:g.62385182G>A	ENSP00000373215:p.Arg1321Cys					CADPS_ENST00000283269.9_Missense_Mutation_p.R1282C|CADPS_ENST00000357948.3_Missense_Mutation_p.R1242C	p.R1321C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	30	4310	-		Lung SC(41;0.0452)	1321			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3961C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059189	0.55325	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.35605	1.3;1.3;1.3	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;0.993;1.0	T	0.70952	-0.4732	10	0.87932	D	0	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1242;1282;1321;1326	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	C	1327;1321;1242;1282	ENSP00000373215:R1321C;ENSP00000350632:R1242C;ENSP00000283269:R1282C	ENSP00000283269:R1282C	R	-	1	0	CADPS	62360222	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.786000	0.62425	2.776000	0.95493	0.655000	0.94253	CGT		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		42	71	0	0	0	1	0	42	71				
SIGLEC12	89858	broad.mit.edu	37	19	52004674	52004674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52004674G>A	ENST00000291707.3	-	1	369	c.314C>T	c.(313-315)aCc>aTc	p.T105I	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	105	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATGCTCAGGGTACAATCCTT	0.498																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(313-315)aCc>aTc		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							171.0	151.0	158.0					19																	52004674		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004674G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.314C>T	19.37:g.52004674G>A	ENSP00000291707:p.Thr105Ile						p.T105I	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	369	-		all_neural(266;0.0199)	105			Ig-like V-type 1.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.314C>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	14.89	2.669614	0.47677	.	.	ENSG00000254521	ENST00000291707	T	0.68181	-0.31	2.42	2.42	0.29668	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61185	0.2327	L	0.58101	1.795	0.24096	N	0.995892	D	0.63880	0.993	B	0.43123	0.409	T	0.55780	-0.8087	9	0.87932	D	0	.	8.0735	0.30704	0.0:0.0:1.0:0.0	.	105	Q96PQ1	SIG12_HUMAN	I	105	ENSP00000291707:T105I	ENSP00000291707:T105I	T	-	2	0	SIGLEC12	56696486	0.434000	0.25570	0.458000	0.27068	0.058000	0.15608	3.207000	0.51106	1.188000	0.43014	0.395000	0.25975	ACC		0.498	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		58	89	0	0	0	1	0	58	89				
ZNF841	284371	broad.mit.edu	37	19	52569880	52569880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569880G>A	ENST00000426391.2	-	5	1458	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	ZNF841_ENST00000389534.4_Missense_Mutation_p.H419Y|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.H419Y|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Missense_Mutation_p.H303Y			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ATTATATGATGTGCAGTGAGG	0.388																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1255-1257)Cat>Tat		zinc finger protein 841							115.0	95.0	101.0					19																	52569880		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569880G>A	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.907C>T	19.37:g.52569880G>A	ENSP00000415453:p.His303Tyr					ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.H419Y|ZNF841_ENST00000359973.2_Missense_Mutation_p.H303Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H303Y	p.H419Y	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	1714	-			303					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1255C>T		.	.	.	.	.	.	.	.	.	.	G	17.86	3.492351	0.64074	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	D;D;D	0.86769	-2.17;-2.17;-2.17	2.64	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95421	0.8513	H	0.97240	3.965	0.31483	N	0.666935	D;D;P	0.89917	0.978;1.0;0.859	D;D;P	0.77004	0.912;0.989;0.751	D	0.93717	0.7029	9	0.87932	D	0	.	12.2619	0.54655	0.0:0.0:1.0:0.0	.	419;303;303	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	Y	419;303;303	ENSP00000374185:H419Y;ENSP00000415453:H303Y;ENSP00000353060:H303Y	ENSP00000353060:H303Y	H	-	1	0	ZNF841	57261692	1.000000	0.71417	0.012000	0.15200	0.194000	0.23727	5.132000	0.64758	1.165000	0.42670	0.313000	0.20887	CAT		0.388	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		3	11	0	0	0	1	0	3	11				
PHF8	23133	broad.mit.edu	37	X	54012203	54012203	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54012203T>C	ENST00000357988.5	-	17	2596				PHF8_ENST00000338154.6_Intron|PHF8_ENST00000322659.8_Missense_Mutation_p.T685A|PHF8_ENST00000338946.6_Intron	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGAGCGGGGGTTGCTGTCTGA	0.512																																						ENST00000322659.8																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2053-2055)Acc>Gcc		PHD finger protein 8							76.0	56.0	63.0					X																	54012203		2203	4300	6503	SO:0001627	intron_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54012203T>C	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2237+45A>G	X.37:g.54012203T>C						PHF8_ENST00000357988.5_Intron|PHF8_ENST00000338154.6_Intron|PHF8_ENST00000338946.6_Intron	p.T685A	NM_001184898.1	NP_001171827.1	Q9UPP1	PHF8_HUMAN			18	2228	-			739					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.2053A>G	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	T	0.585	-0.835351	0.02713	.	.	ENSG00000172943	ENST00000322659	T	0.21361	2.01	5.16	-8.58	0.00897	.	.	.	.	.	T	0.04679	0.0127	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27739	-1.0065	6	0.06757	T	0.87	.	0.7125	0.00926	0.3317:0.1588:0.1309:0.3786	.	.	.	.	A	685	ENSP00000319473:T685A	ENSP00000319473:T685A	T	-	1	0	PHF8	54028928	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.909000	0.04058	-2.670000	0.00414	-1.171000	0.01739	ACC		0.512	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		9	19	0	0	0	1	0	9	19				
ZSWIM8	23053	broad.mit.edu	37	10	75558185	75558185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75558185C>T	ENST00000605216.1	+	20	4352	c.4135C>T	c.(4135-4137)Cgg>Tgg	p.R1379W	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1379W|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1346W|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R1384W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1384W	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1379							zinc ion binding (GO:0008270)	p.R1379W(1)|p.R1384W(1)|p.R764W(1)									TGAGATCCAGCGGGCCCTGGT	0.597																																						ENST00000604729.1																			3	Substitution - Missense(3)	p.R1379W(1)|p.R1384W(1)|p.R764W(1)	endometrium(3)								c.(4150-4152)Cgg>Tgg		zinc finger, SWIM-type containing 8							40.0	41.0	40.0					10																	75558185		1967	4142	6109	SO:0001583	missense	23053							g.chr10:75558185C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4135C>T	10.37:g.75558185C>T	ENSP00000474748:p.Arg1379Trp					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1379W|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1384W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1346W|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1379W	p.R1384W							20	4447	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.4150C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.64|16.64	3.178921|3.178921	0.57692|0.57692	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706	.|T	.|0.53423	.|0.62	5.44|5.44	2.23|2.23	0.28157|0.28157	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.67730|0.67730	0.2924|0.2924	M|M	0.80183|0.80183	2.485|2.485	0.49130|0.49130	D|D	0.999755|0.999755	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.994;0.996;0.994;0.994	T|T	0.74469|0.74469	-0.3655|-0.3655	5|10	.|0.87932	.|D	.|0	-7.2724|-7.2724	13.2415|13.2415	0.59999|0.59999	0.5233:0.4767:0.0:0.0|0.5233:0.4767:0.0:0.0	.|.	.|1379;1391;1379;1384	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	V|W	1094|1384	.|ENSP00000381693:R1384W	.|ENSP00000381693:R1384W	A|R	+|+	2|1	0|2	KIAA0913|KIAA0913	75228191|75228191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.311000|4.311000	0.59147|0.59147	1.280000|1.280000	0.44463|0.44463	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.597	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		12	20	0	0	0	1	0	12	20				
TOM1L2	146691	broad.mit.edu	37	17	17770235	17770235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17770235G>A	ENST00000379504.3	-	9	998	c.915C>T	c.(913-915)ttC>ttT	p.F305F	TOM1L2_ENST00000318094.10_Silent_p.F260F|TOM1L2_ENST00000581396.1_Silent_p.F255F|TOM1L2_ENST00000535933.1_Silent_p.F252F|TOM1L2_ENST00000540946.1_Silent_p.F207F|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000478943.1_Silent_p.F38F|TOM1L2_ENST00000542206.1_Silent_p.F157F|TOM1L2_ENST00000395739.4_Silent_p.F260F	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	305	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTATCGTTCGAACCTAACAG	0.517																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(763-765)ttC>ttT		target of myb1-like 2 (chicken)							116.0	107.0	110.0					17																	17770235		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17770235G>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.915C>T	17.37:g.17770235G>A						TOM1L2_ENST00000542206.1_Silent_p.F157F|TOM1L2_ENST00000318094.10_Silent_p.F260F|TOM1L2_ENST00000535933.1_Silent_p.F252F|TOM1L2_ENST00000540946.1_Silent_p.F207F|TOM1L2_ENST00000379504.3_Silent_p.F305F|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000395739.4_Silent_p.F260F|TOM1L2_ENST00000478943.1_Silent_p.F38F	p.F255F	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			8	861	-	all_neural(463;0.228)		305			GAT.		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.765C>T	CCDS42270.1																																																																																				0.517	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			11	52	0	0	0	1	0	11	52				
ISLR2	57611	broad.mit.edu	37	15	74425584	74425584	+	Silent	SNP	G	G	A	rs374687804		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425584G>A	ENST00000361742.3	+	4	1258	c.489G>A	c.(487-489)gcG>gcA	p.A163A	ISLR2_ENST00000453268.2_Silent_p.A163A|ISLR2_ENST00000565540.1_Silent_p.A163A|ISLR2_ENST00000435464.1_Silent_p.A163A|ISLR2_ENST00000419208.1_Silent_p.A163A|ISLR2_ENST00000445793.1_Silent_p.A163A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A163A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	163					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTACGCTGGCGCCTGGCACCT	0.657																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(487-489)gcG>gcA		immunoglobulin superfamily containing leucine-rich repeat 2		G	,,,	1,4395	2.1+/-5.4	0,1,2197	55.0	60.0	58.0		489,489,489,489	-8.9	0.0	15		58	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ISLR2	NM_001130136.1,NM_001130137.1,NM_001130138.1,NM_020851.2	,,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,,	163/746,163/746,163/746,163/746	74425584	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425584G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.489G>A	15.37:g.74425584G>A						ISLR2_ENST00000453268.2_Silent_p.A163A|ISLR2_ENST00000435464.1_Silent_p.A163A|ISLR2_ENST00000419208.1_Silent_p.A163A|ISLR2_ENST00000565159.1_Silent_p.A163A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Silent_p.A163A|ISLR2_ENST00000565540.1_Silent_p.A163A	p.A163A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1258	+			163					A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.489G>A	CCDS10259.1																																																																																				0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		8	76	0	0	0	1	0	8	76				
IQSEC3	440073	broad.mit.edu	37	12	272684	272684	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:272684C>A	ENST00000538872.1	+	9	2726	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	IQSEC3_ENST00000382841.2_Missense_Mutation_p.L567M|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L870M			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	870	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACCGCCGCCTGGTGTGCTG	0.657																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2608-2610)Ctg>Atg		IQ motif and Sec7 domain 3							70.0	68.0	69.0					12																	272684		2202	4299	6501	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:272684C>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2608C>A	12.37:g.272684C>A	ENSP00000437554:p.Leu870Met					IQSEC3_ENST00000382841.2_Missense_Mutation_p.L567M|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L870M	p.L870M			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	9	2726	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		870			PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2608C>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	c	16.96	3.265793	0.59540	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.38401	1.14;1.14;1.14	3.96	2.14	0.27477	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.150476	0.45361	D	0.000363	T	0.58133	0.2101	M	0.82517	2.595	0.58432	D	0.999996	D;D	0.65815	0.971;0.995	D;D	0.76071	0.974;0.987	T	0.60692	-0.7213	10	0.87932	D	0	.	9.2155	0.37344	0.0:0.6898:0.0:0.3102	.	870;567	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	M	870;870;567	ENSP00000437554:L870M;ENSP00000315662:L870M;ENSP00000372292:L567M	ENSP00000315662:L870M	L	+	1	2	IQSEC3	142945	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.599000	0.36751	0.661000	0.30985	-0.130000	0.14895	CTG		0.657	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		29	36	1	0	4.43304e-23	1	5.86336e-23	29	36				
CYLD	1540	broad.mit.edu	37	16	50828334	50828334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50828334G>A	ENST00000427738.3	+	17	2886	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	CYLD_ENST00000398568.2_Missense_Mutation_p.R891Q|RP11-327F22.4_ENST00000564510.1_RNA|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.R891Q|CYLD_ENST00000540145.1_Missense_Mutation_p.R894Q|CYLD_ENST00000566206.1_Missense_Mutation_p.R891Q|CYLD_ENST00000564326.1_Missense_Mutation_p.R891Q|CYLD_ENST00000311559.9_Missense_Mutation_p.R894Q|CYLD_ENST00000568704.2_Missense_Mutation_p.R709Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	894	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATGGCCGATCGGGATGGTACT	0.463			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2680-2682)cGg>cAg		cylindromatosis (turban tumor syndrome)							149.0	144.0	146.0					16																	50828334		1965	4170	6135	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50828334G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2681G>A	16.37:g.50828334G>A	ENSP00000392025:p.Arg894Gln					RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.R891Q|CYLD_ENST00000566206.1_Missense_Mutation_p.R891Q|CYLD_ENST00000568704.2_Missense_Mutation_p.R709Q|CYLD_ENST00000398568.2_Missense_Mutation_p.R891Q|CYLD_ENST00000311559.9_Missense_Mutation_p.R894Q|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.R891Q|CYLD_ENST00000427738.3_Missense_Mutation_p.R894Q	p.R894Q			Q9NQC7	CYLD_HUMAN			18	3096	+		all_cancers(37;0.0156)	894					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2681G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506474	0.96386	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.39592	1.07;1.07;1.07	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.70182	-0.4942	10	0.87932	D	0	-21.7734	20.1615	0.98135	0.0:0.0:1.0:0.0	.	891;891	A8KAB0;Q9NQC7-2	.;.	Q	894;894;891;891	ENSP00000445447:R894Q;ENSP00000308928:R894Q;ENSP00000381574:R891Q	ENSP00000308928:R894Q	R	+	2	0	CYLD	49385835	1.000000	0.71417	0.918000	0.36340	0.858000	0.48976	9.361000	0.97122	2.835000	0.97688	0.650000	0.86243	CGG		0.463	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			44	75	0	0	0	1	0	44	75				
ALCAM	214	broad.mit.edu	37	3	105264032	105264032	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105264032G>A	ENST00000306107.5	+	9	1491				ALCAM_ENST00000486979.2_Intron|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_Splice_Site	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTACATTTCAGAGTTAGCACT	0.343																																						ENST00000481337.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.e10-1		activated leukocyte cell adhesion molecule							65.0	65.0	65.0					3																	105264032		2203	4299	6502	SO:0001627	intron_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105264032G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.992-35G>A	3.37:g.105264032G>A						ALCAM_ENST00000486979.2_Intron|ALCAM_ENST00000306107.5_Intron|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Intron				Q13740	CD166_HUMAN			10	1120	+								B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Splice_Site	SNP	ENST00000306107.5	37		CCDS33810.1																																																																																				0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		16	15	0	0	0	1	0	16	15				
FRMPD4	9758	broad.mit.edu	37	X	12627867	12627867	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12627867C>T	ENST00000380682.1	+	3	692	c.186C>T	c.(184-186)gaC>gaT	p.D62D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	62	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCCTTTTGACGACCCTCGGT	0.512																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(184-186)gaC>gaT		FERM and PDZ domain containing 4							100.0	89.0	93.0					X																	12627867		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12627867C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.186C>T	X.37:g.12627867C>T							p.D62D	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			3	692	+			62			WW.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.186C>T	CCDS35201.1																																																																																				0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		30	46	0	0	0	1	0	30	46				
SPNS1	83985	broad.mit.edu	37	16	28995229	28995229	+	Silent	SNP	C	C	T	rs371131211		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28995229C>T	ENST00000311008.11	+	11	1820	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	LAT_ENST00000564277.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.T526T|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000352260.7_Silent_p.T407T|SPNS1_ENST00000334536.8_Silent_p.T429T|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Silent_p.T408T|LAT_ENST00000395456.2_5'Flank	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	481					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCTGGGCACCGCCATCTTCA	0.652																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1441-1443)acC>acT		spinster homolog 1 (Drosophila)							41.0	44.0	43.0					16																	28995229		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995229C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1443C>T	16.37:g.28995229C>T						SPNS1_ENST00000565975.1_Silent_p.T526T|SPNS1_ENST00000352260.7_Silent_p.T407T|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.T429T|SPNS1_ENST00000323081.8_Silent_p.T408T	p.T481T	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			11	1820	+			481					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.1443C>T	CCDS10646.1																																																																																				0.652	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		27	38	0	0	0	1	0	27	38				
TFR2	7036	broad.mit.edu	37	7	100238479	100238479	+	Silent	SNP	G	G	A	rs376955913		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100238479G>A	ENST00000462107.1	-	4	590	c.303C>T	c.(301-303)taC>taT	p.Y101Y	TFR2_ENST00000431692.1_Silent_p.Y101Y|TFR2_ENST00000223051.3_Silent_p.Y101Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	101					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GGAAGGCGACGTAGCCCAGTA	0.597																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(301-303)taC>taT		transferrin receptor 2		G		0,4406		0,0,2203	55.0	50.0	52.0		303	-3.6	0.9	7		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFR2	NM_003227.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		101/802	100238479	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100238479G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.303C>T	7.37:g.100238479G>A						TFR2_ENST00000223051.3_Silent_p.Y101Y|TFR2_ENST00000431692.1_Silent_p.Y101Y	p.Y101Y			Q9UP52	TFR2_HUMAN			4	590	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		101					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	c.303C>T	CCDS34707.1																																																																																				0.597	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		5	61	0	0	0	1	0	5	61				
PODXL	5420	broad.mit.edu	37	7	131196042	131196042	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131196042C>T	ENST00000378555.3	-	2	498	c.251G>A	c.(250-252)gGt>gAt	p.G84D	PODXL_ENST00000537928.1_Missense_Mutation_p.G84D|PODXL_ENST00000322985.9_Missense_Mutation_p.G84D|PODXL_ENST00000541194.1_Missense_Mutation_p.G86D|PODXL_ENST00000465001.1_5'UTR			O00592	PODXL_HUMAN	podocalyxin-like	84	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGGATACACCAAGGGTGGT	0.582																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(256-258)gGt>gAt		podocalyxin-like							159.0	153.0	155.0					7																	131196042		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131196042C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.251G>A	7.37:g.131196042C>T	ENSP00000367817:p.Gly84Asp					PODXL_ENST00000322985.9_Missense_Mutation_p.G84D|PODXL_ENST00000537928.1_Missense_Mutation_p.G84D|PODXL_ENST00000378555.3_Missense_Mutation_p.G84D|PODXL_ENST00000465001.1_5'UTR	p.G86D	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	514	-	Melanoma(18;0.162)		84			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.257G>A	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	2.337	-0.352013	0.05173	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.14022	2.68;2.54;2.69;2.75	2.8	-0.142	0.13448	.	2.190520	0.02073	N	0.051694	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	P;P	0.45827	0.867;0.791	B;B	0.41271	0.352;0.192	T	0.14699	-1.0463	10	0.13853	T	0.58	.	1.3948	0.02258	0.1356:0.2234:0.4246:0.2163	.	84;84	O00592-2;O00592	.;PODXL_HUMAN	D	86;84;74;84;84	ENSP00000440518:G86D;ENSP00000442655:G84D;ENSP00000367817:G84D;ENSP00000319782:G84D	ENSP00000319782:G84D	G	-	2	0	PODXL	130846582	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.182000	0.00278	-0.050000	0.13356	-0.416000	0.06073	GGT		0.582	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		35	72	0	0	0	1	0	35	72				
HELB	92797	broad.mit.edu	37	12	66725397	66725397	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66725397A>G	ENST00000247815.4	+	12	3193	c.3134A>G	c.(3133-3135)gAt>gGt	p.D1045G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1045					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGTGTGAATGATGATGAAAGT	0.373																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(3133-3135)gAt>gGt		helicase (DNA) B							82.0	84.0	83.0					12																	66725397		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725397A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3134A>G	12.37:g.66725397A>G	ENSP00000247815:p.Asp1045Gly						p.D1045G	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	3193	+			1045					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.3134A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452309	0.26074	.	.	ENSG00000127311	ENST00000247815	T	0.12879	2.64	4.97	-9.95	0.00446	.	1.846740	0.02443	N	0.084826	T	0.10637	0.0260	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12218	-1.0556	9	.	.	.	0.9814	4.0808	0.09925	0.1606:0.1964:0.0698:0.5732	.	1045	Q8NG08	HELB_HUMAN	G	1045	ENSP00000247815:D1045G	.	D	+	2	0	HELB	65011664	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.144000	0.03197	-2.940000	0.00297	-0.333000	0.08304	GAT		0.373	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			9	87	0	0	0	1	0	9	87				
MEA1	4201	broad.mit.edu	37	6	42980865	42980865	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42980865C>A	ENST00000244711.3	-	2	445	c.291G>T	c.(289-291)caG>caT	p.Q97H	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	97					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATTCGATCCTGGATGTCAG	0.577																																						ENST00000244711.3																			0				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(289-291)caG>caT		male-enhanced antigen 1							145.0	126.0	132.0					6																	42980865		2203	4300	6503	SO:0001583	missense	4201				cell differentiation|male gonad development|spermatogenesis		protein binding	g.chr6:42980865C>A		CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.291G>T	6.37:g.42980865C>A	ENSP00000244711:p.Gln97His						p.Q97H	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	445	-			97					Q5TC36|Q9BV01	Missense_Mutation	SNP	ENST00000244711.3	37	c.291G>T	CCDS4879.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241672	0.79912	.	.	ENSG00000124733	ENST00000244711	T	0.53640	0.61	6.08	3.19	0.36642	.	0.128505	0.53938	D	0.000041	T	0.40546	0.1121	L	0.32530	0.975	0.45777	D	0.998662	D	0.71674	0.998	D	0.67900	0.954	T	0.41734	-0.9492	10	0.66056	D	0.02	-15.0299	8.6948	0.34289	0.0:0.7457:0.1254:0.129	.	97	Q16626	MEA1_HUMAN	H	97	ENSP00000244711:Q97H	ENSP00000244711:Q97H	Q	-	3	2	MEA1	43088843	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.960000	0.29253	0.887000	0.36136	0.591000	0.81541	CAG		0.577	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2			41	56	1	0	2.95478e-19	1	3.86493e-19	41	56				
NCSTN	23385	broad.mit.edu	37	1	160318821	160318821	+	Missense_Mutation	SNP	G	G	A	rs12045198	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160318821G>A	ENST00000294785.5	+	3	348	c.223G>A	c.(223-225)Gta>Ata	p.V75I	NCSTN_ENST00000392212.4_Missense_Mutation_p.V55I|NCSTN_ENST00000535857.1_Missense_Mutation_p.V75I|NCSTN_ENST00000368063.1_Missense_Mutation_p.V55I|NCSTN_ENST00000368065.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	75			V -> I (in dbSNP:rs12045198).		amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTATCCACGTAGTAGAGAA	0.463													G|||	3	0.000599042	0.0	0.0	5008	,	,		19216	0.003		0.0	False		,,,				2504	0.0					ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(163-165)Gta>Ata		nicastrin							117.0	115.0	116.0					1																	160318821		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160318821G>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.223G>A	1.37:g.160318821G>A	ENSP00000294785:p.Val75Ile					NCSTN_ENST00000535857.1_Missense_Mutation_p.V75I|NCSTN_ENST00000294785.5_Missense_Mutation_p.V75I|NCSTN_ENST00000392212.4_Missense_Mutation_p.V55I	p.V55I			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	443	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		75					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.163G>A	CCDS1203.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.72	2.322555	0.41096	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T;T	0.77620	-1.11;-1.1;-0.2;-0.11;-0.1;-0.12;-1.1	5.08	5.08	0.68730	.	0.077594	0.51477	D	0.000082	T	0.71126	0.3303	M	0.65320	2	0.80722	D	1	D;D;D	0.69078	0.989;0.997;0.987	P;P;B	0.47915	0.561;0.507;0.306	T	0.70099	-0.4965	10	0.25106	T	0.35	-10.9802	15.2099	0.73214	0.0:0.0:1.0:0.0	rs12045198;rs52828272;rs12045198	75;55;75	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	I	75;55;75;75;75;108;55	ENSP00000294785:V75I;ENSP00000357042:V55I;ENSP00000415442:V75I;ENSP00000390409:V75I;ENSP00000442605:V75I;ENSP00000389370:V108I;ENSP00000376047:V55I	ENSP00000294785:V75I	V	+	1	0	NCSTN	158585445	1.000000	0.71417	0.772000	0.31596	0.553000	0.35397	5.315000	0.65810	2.356000	0.79943	0.655000	0.94253	GTA		0.463	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		14	44	0	0	0	1	0	14	44				
ZNF518B	85460	broad.mit.edu	37	4	10445301	10445301	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10445301A>C	ENST00000326756.3	-	3	3090	c.2652T>G	c.(2650-2652)ctT>ctG	p.L884L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	884					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACTTATAGAAAGACTTCTGG	0.398																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2650-2652)ctT>ctG		zinc finger protein 518B							65.0	70.0	68.0					4																	10445301		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445301A>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2652T>G	4.37:g.10445301A>C							p.L884L	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3090	-			884					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.2652T>G	CCDS33960.1																																																																																				0.398	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		20	52	0	0	0	1	0	20	52				
SENP2	59343	broad.mit.edu	37	3	185330425	185330425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185330425G>A	ENST00000296257.5	+	9	1088	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	SENP2_ENST00000545472.1_Missense_Mutation_p.C273Y|SENP2_ENST00000427465.2_Missense_Mutation_p.C107Y	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	283					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGACCTCTATGTTCATTGAGA	0.308																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(847-849)tGt>tAt		SUMO1/sentrin/SMT3 specific peptidase 2							81.0	78.0	79.0					3																	185330425		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185330425G>A	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.848G>A	3.37:g.185330425G>A	ENSP00000296257:p.Cys283Tyr					SENP2_ENST00000545472.1_Missense_Mutation_p.C273Y|SENP2_ENST00000427465.2_Missense_Mutation_p.C107Y	p.C283Y	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		9	1088	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		283					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.848G>A	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084425	0.76642	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.23754	1.89;1.9;1.94	6.0	6.0	0.97389	.	0.114344	0.40554	N	0.001076	T	0.33059	0.0850	N	0.19112	0.55	0.34027	D	0.653307	D;D	0.67145	0.996;0.996	P;P	0.59703	0.862;0.862	T	0.37056	-0.9722	10	0.56958	D	0.05	-9.6042	16.0001	0.80288	0.0:0.0:1.0:0.0	.	273;283	B4DQ42;Q9HC62	.;SENP2_HUMAN	Y	273;283;154;107	ENSP00000439653:C273Y;ENSP00000296257:C283Y;ENSP00000394562:C107Y	ENSP00000296257:C283Y	C	+	2	0	SENP2	186813119	0.997000	0.39634	0.990000	0.47175	0.996000	0.88848	2.935000	0.48963	2.856000	0.98102	0.643000	0.83706	TGT		0.308	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		12	31	0	0	0	1	0	12	31				
APAF1	317	broad.mit.edu	37	12	99121056	99121056	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:99121056G>T	ENST00000551964.1	+	26	4298	c.3562G>T	c.(3562-3564)Gat>Tat	p.D1188Y	APAF1_ENST00000550527.1_Missense_Mutation_p.D1177Y|APAF1_ENST00000339433.3_Missense_Mutation_p.D1103Y|APAF1_ENST00000357310.1_Missense_Mutation_p.D1145Y|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D1134Y|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.D1145Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D1103Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1188					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTTTTCTCCAGATGGCAAAAT	0.428																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3433-3435)Gat>Tat		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						92.0	93.0	93.0					12																	99121056		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99121056G>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3562G>T	12.37:g.99121056G>T	ENSP00000448165:p.Asp1188Tyr					APAF1_ENST00000339433.3_Missense_Mutation_p.D1103Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D1103Y|APAF1_ENST00000547045.1_Missense_Mutation_p.D1145Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D1134Y|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.D1177Y|APAF1_ENST00000551964.1_Missense_Mutation_p.D1188Y|APAF1_ENST00000552268.1_Intron	p.D1145Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			25	4010	+			1188					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.3433G>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544599	0.65198	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;T;T;D;T;T	0.84298	-1.83;-1.83;1.76;0.39;-1.83;1.76;0.39	5.79	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.993;0.997	D	0.95226	0.8338	10	0.87932	D	0	-0.0245	14.9803	0.71306	0.0687:0.0:0.9313:0.0	.	1103;1145;1134;1188;1177	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	1188;1134;1145;1103;1177;1145;1103	ENSP00000448165:D1188Y;ENSP00000353059:D1134Y;ENSP00000349862:D1145Y;ENSP00000341830:D1103Y;ENSP00000448449:D1177Y;ENSP00000449791:D1145Y;ENSP00000448161:D1103Y	ENSP00000341830:D1103Y	D	+	1	0	APAF1	97645187	1.000000	0.71417	0.972000	0.41901	0.902000	0.53008	5.197000	0.65141	1.453000	0.47775	0.650000	0.86243	GAT		0.428	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		8	87	1	0	0.000157383	1	0.00017284	8	87				
BTBD2	55643	broad.mit.edu	37	19	1987624	1987624	+	Missense_Mutation	SNP	G	G	T	rs376203912		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1987624G>T	ENST00000255608.4	-	6	1072	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K	AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	352						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCTTGGGGTTGACGGTGA	0.667																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1054-1056)aaC>aaA		BTB (POZ) domain containing 2							59.0	49.0	52.0					19																	1987624		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987624G>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1056C>A	19.37:g.1987624G>T	ENSP00000255608:p.Asn352Lys						p.N352K	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1072	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	352					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1056C>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096319	0.36952	.	.	ENSG00000133243	ENST00000255608	T	0.10382	2.88	4.22	0.76	0.18442	.	0.182612	0.56097	D	0.000031	T	0.18635	0.0447	L	0.50333	1.59	0.52501	D	0.999952	D	0.71674	0.998	D	0.64687	0.928	T	0.02526	-1.1146	10	0.25106	T	0.35	-19.1605	8.3044	0.32034	0.2755:0.0:0.7245:0.0	.	352	Q9BX70	BTBD2_HUMAN	K	352	ENSP00000255608:N352K	ENSP00000255608:N352K	N	-	3	2	BTBD2	1938624	1.000000	0.71417	0.886000	0.34754	0.595000	0.36748	2.440000	0.44855	0.056000	0.16144	0.561000	0.74099	AAC		0.667	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			6	12	1	0	5.9392e-07	1	6.91975e-07	6	12				
SERPINA11	256394	broad.mit.edu	37	14	94914738	94914738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914738G>T	ENST00000334708.3	-	2	438	c.374C>A	c.(373-375)aCc>aAc	p.T125N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	125					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAGGGCAAGGGTGTGGAGGAG	0.557																																						ENST00000334708.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(373-375)aCc>aAc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11							111.0	118.0	116.0					14																	94914738		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914738G>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.374C>A	14.37:g.94914738G>T	ENSP00000335024:p.Thr125Asn					RP11-349I1.2_ENST00000536735.1_RNA	p.T125N	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	438	-			125					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.374C>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516402	0.44763	.	.	ENSG00000186910	ENST00000334708	D	0.84223	-1.82	5.04	4.08	0.47627	Serpin domain (3);	0.089163	0.46758	D	0.000263	D	0.83229	0.5209	M	0.64170	1.965	0.35364	D	0.788445	P	0.42649	0.786	P	0.48089	0.566	T	0.82301	-0.0525	10	0.23302	T	0.38	.	5.709	0.17925	0.1632:0.0:0.6507:0.1862	.	125	Q86U17	SPA11_HUMAN	N	125	ENSP00000335024:T125N	ENSP00000335024:T125N	T	-	2	0	SERPINA11	93984491	0.724000	0.28038	0.987000	0.45799	0.274000	0.26718	2.890000	0.48609	2.622000	0.88805	0.655000	0.94253	ACC		0.557	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		59	116	1	0	9.10829e-22	1	1.20035e-21	59	116				
USP44	84101	broad.mit.edu	37	12	95918498	95918498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95918498C>T	ENST00000258499.3	-	4	1979	c.1691G>A	c.(1690-1692)tGc>tAc	p.C564Y	USP44_ENST00000393091.2_Missense_Mutation_p.C564Y|USP44_ENST00000552440.1_3'UTR|USP44_ENST00000537435.2_Missense_Mutation_p.C564Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	564	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGTAGGTGGCATATCATAAG	0.393																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1690-1692)tGc>tAc		ubiquitin specific peptidase 44							192.0	179.0	183.0					12																	95918498		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95918498C>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1691G>A	12.37:g.95918498C>T	ENSP00000258499:p.Cys564Tyr					USP44_ENST00000552440.1_3'UTR|USP44_ENST00000537435.2_Missense_Mutation_p.C564Y|USP44_ENST00000393091.2_Missense_Mutation_p.C564Y	p.C564Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			4	1979	-			564					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1691G>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.644904	0.00792	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.29397	1.57;1.57;1.57	5.94	5.05	0.67936	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.186959	0.64402	D	0.000016	T	0.10465	0.0256	N	0.00985	-1.075	0.37972	D	0.933315	B	0.12630	0.006	B	0.17098	0.017	T	0.22661	-1.0210	10	0.02654	T	1	.	15.3131	0.74053	0.0:0.9329:0.0:0.0671	.	564	Q9H0E7	UBP44_HUMAN	Y	564	ENSP00000258499:C564Y;ENSP00000376806:C564Y;ENSP00000442629:C564Y	ENSP00000258499:C564Y	C	-	2	0	USP44	94442629	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	3.118000	0.50414	1.521000	0.48983	-0.291000	0.09656	TGC		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		23	52	0	0	0	1	0	23	52				
WWOX	51741	broad.mit.edu	37	16	78142332	78142332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78142332G>T	ENST00000566780.1	+	2	486	c.120G>T	c.(118-120)gaG>gaT	p.E40D	WWOX_ENST00000355860.3_Missense_Mutation_p.E40D|WWOX_ENST00000402655.2_Missense_Mutation_p.E40D|WWOX_ENST00000406884.2_Missense_Mutation_p.E40D|WWOX_ENST00000408984.3_Missense_Mutation_p.E40D|WWOX_ENST00000539474.2_Missense_Mutation_p.E40D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	40	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ACACCGAGGAGAAGACTCAGT	0.338																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(118-120)gaG>gaT		WW domain containing oxidoreductase							124.0	126.0	125.0					16																	78142332		1838	4088	5926	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78142332G>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.120G>T	16.37:g.78142332G>T	ENSP00000457230:p.Glu40Asp					WWOX_ENST00000355860.3_Missense_Mutation_p.E40D|WWOX_ENST00000402655.2_Missense_Mutation_p.E40D|WWOX_ENST00000539474.2_Missense_Mutation_p.E40D|WWOX_ENST00000408984.3_Missense_Mutation_p.E40D|WWOX_ENST00000406884.2_Missense_Mutation_p.E40D	p.E40D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	2	486	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	40			WW 1.		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.120G>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259762	0.80246	.	.	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000402655;ENST00000406884;ENST00000539474	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.51	4.55	0.56014	WW/Rsp5/WWP (6);	0.116121	0.56097	D	0.000022	T	0.77585	0.4152	N	0.19112	0.55	0.40381	D	0.979442	P;P;P;B	0.51933	0.947;0.949;0.536;0.375	P;B;B;B	0.51582	0.674;0.392;0.396;0.19	T	0.79640	-0.1719	10	0.72032	D	0.01	.	9.0017	0.36085	0.2373:0.0:0.7627:0.0	.	40;40;40;40	Q9NZC7-6;Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;.;WWOX_HUMAN;.	D	40	ENSP00000386161:E40D;ENSP00000348119:E40D;ENSP00000384238:E40D;ENSP00000384495:E40D;ENSP00000445210:E40D	ENSP00000348119:E40D	E	+	3	2	WWOX	76699833	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.453000	0.60061	1.309000	0.44985	0.655000	0.94253	GAG		0.338	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			4	47	1	0	0.184627	1	0.186383	4	47				
IL11RA	3590	broad.mit.edu	37	9	34658656	34658656	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34658656G>A	ENST00000555003.1	+	8	2142	c.786G>A	c.(784-786)ccG>ccA	p.P262P	IL11RA_ENST00000441545.2_Silent_p.P262P|IL11RA_ENST00000602473.1_Silent_p.P262P|IL11RA_ENST00000318041.9_Silent_p.P262P|IL11RA_ENST00000378817.4_Silent_p.P262P			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	262	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGTACCGTCCGGCGCAGCATC	0.627																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(784-786)ccG>ccA		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						76.0	61.0	66.0					9																	34658656		2203	4300	6503	SO:0001819	synonymous_variant	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34658656G>A	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.786G>A	9.37:g.34658656G>A						IL11RA_ENST00000378817.4_Silent_p.P262P|IL11RA_ENST00000318041.9_Silent_p.P262P|IL11RA_ENST00000602473.1_Silent_p.P262P|IL11RA_ENST00000441545.2_Silent_p.P262P	p.P262P			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	8	2142	+	all_epithelial(49;0.102)		262			Fibronectin type-III 2.		Q16542|Q5VZ80|Q7KYJ7	Silent	SNP	ENST00000555003.1	37	c.786G>A	CCDS6567.1																																																																																				0.627	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		17	39	0	0	0	1	0	17	39				
RYR2	6262	broad.mit.edu	37	1	237942006	237942006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237942006G>A	ENST00000366574.2	+	88	12133	c.11816G>A	c.(11815-11817)aGg>aAg	p.R3939K	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3945K|RYR2_ENST00000542537.1_Missense_Mutation_p.R3923K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3939					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACACAGCAGGCTGTGGGAT	0.448																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11815-11817)aGg>aAg		ryanodine receptor 2 (cardiac)							109.0	108.0	108.0					1																	237942006		1909	4122	6031	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237942006G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11816G>A	1.37:g.237942006G>A	ENSP00000355533:p.Arg3939Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.R3923K|RYR2_ENST00000360064.6_Missense_Mutation_p.R3945K	p.R3939K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		88	12133	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3939					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11816G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.738789	0.96873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.94828	-3.53;-3.53;-3.53	5.76	5.76	0.90799	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	D	0.000011	D	0.96358	0.8812	L	0.46670	1.46	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.80764	0.994;0.978	D	0.96589	0.9436	10	0.87932	D	0	-13.0513	19.9731	0.97292	0.0:0.0:1.0:0.0	.	913;3939	B4DGV4;Q92736	.;RYR2_HUMAN	K	3939;3945;3923;913	ENSP00000355533:R3939K;ENSP00000353174:R3945K;ENSP00000443798:R3923K	ENSP00000353174:R3945K	R	+	2	0	RYR2	236008629	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	9.813000	0.99286	2.715000	0.92844	0.563000	0.77884	AGG		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		29	40	0	0	0	1	0	29	40				
IGHG4	3503	broad.mit.edu	37	14	106092260	106092260	+	RNA	SNP	G	G	A	rs367653567		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106092260G>A	ENST00000390543.2	-	0	143							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTGCACGCCGCTGGTCAGGG	0.652																																						ENST00000390543.2																			0															T		2,3932		0,2,1965	44.0	51.0	49.0			-5.6	0.0	14		49	2,8222		0,2,4110	no	intergenic				0,4,6075	AA,AG,GG		0.0243,0.0508,0.0329			106092260	4,12154	1967	4112	6079			0							g.chr14:106092260G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092260G>A														0	143	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.652	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		12	17	0	0	0	1	0	12	17				
C1orf27	54953	broad.mit.edu	37	1	186358749	186358749	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186358749A>G	ENST00000287859.6	+	6	592	c.467A>G	c.(466-468)gAt>gGt	p.D156G	C1orf27_ENST00000419367.3_Missense_Mutation_p.D124G|C1orf27_ENST00000432021.3_Missense_Mutation_p.D156G|C1orf27_ENST00000367470.3_Missense_Mutation_p.D156G	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	156						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GATATCCATGATCCAAAGGTA	0.254																																						ENST00000367470.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(466-468)gAt>gGt		chromosome 1 open reading frame 27							64.0	62.0	62.0					1																	186358749		1786	4050	5836	SO:0001583	missense	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186358749A>G	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.467A>G	1.37:g.186358749A>G	ENSP00000287859:p.Asp156Gly					C1orf27_ENST00000287859.6_Missense_Mutation_p.D156G|C1orf27_ENST00000432021.3_Missense_Mutation_p.D156G|C1orf27_ENST00000419367.3_Missense_Mutation_p.D124G	p.D156G	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN			6	703	+			156					B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	c.467A>G	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084032	0.76642	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.77103	2.36	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.68401	-0.5418	10	0.51188	T	0.08	-31.3812	15.0005	0.71466	1.0:0.0:0.0:0.0	.	124;156;156	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	G	156;124;156;156	ENSP00000356440:D156G;ENSP00000395084:D124G;ENSP00000402029:D156G;ENSP00000287859:D156G	ENSP00000287859:D156G	D	+	2	0	C1orf27	184625372	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	6.156000	0.71840	2.026000	0.59711	0.533000	0.62120	GAT		0.254	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		3	43	0	0	0	1	0	3	43				
KDM5B	10765	broad.mit.edu	37	1	202727577	202727577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202727577C>T	ENST00000367265.3	-	9	2303	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.R416H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	380					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCAAAAGTACGGAGGGTATA	0.383																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1138-1140)cGt>cAt		lysine (K)-specific demethylase 5B							116.0	99.0	105.0					1																	202727577		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202727577C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1139G>A	1.37:g.202727577C>T	ENSP00000356234:p.Arg380His					KDM5B_ENST00000367264.2_Missense_Mutation_p.R416H|KDM5B_ENST00000456180.1_5'UTR	p.R380H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			9	2303	-			380					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1139G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263904	0.95399	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.71461	-0.57;-0.57;-0.57	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	L	0.59436	1.845	0.58432	D	0.999997	D;B	0.76494	0.999;0.157	D;B	0.66084	0.941;0.025	T	0.82380	-0.0486	10	0.72032	D	0.01	-18.5738	20.3431	0.98773	0.0:1.0:0.0:0.0	.	416;380	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	380;222;416;222	ENSP00000356234:R380H;ENSP00000356233:R416H;ENSP00000235790:R222H	ENSP00000235790:R222H	R	-	2	0	KDM5B	200994200	0.995000	0.38212	0.991000	0.47740	0.998000	0.95712	2.535000	0.45685	2.880000	0.98712	0.650000	0.86243	CGT		0.383	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		23	42	0	0	0	1	0	23	42				
SEMA3A	10371	broad.mit.edu	37	7	83592532	83592532	+	Nonsense_Mutation	SNP	G	G	A	rs144701441		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592532G>A	ENST00000265362.4	-	16	2163	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.R617*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	617	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTCTTTTCGCTCTTCATTT	0.388																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1849-1851)Cga>Tga		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							186.0	188.0	187.0					7																	83592532		2203	4300	6503	SO:0001587	stop_gained	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83592532G>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1849C>T	7.37:g.83592532G>A	ENSP00000265362:p.Arg617*					SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.R617*	p.R617*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			16	2163	-			617			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000265362.4	37	c.1849C>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	41	8.617822	0.98888	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	.	.	.	6.05	4.21	0.49690	.	0.761923	0.12722	N	0.444599	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5245	0.75890	0.0:0.0:0.7472:0.2528	.	.	.	.	X	617	.	ENSP00000265362:R617X	R	-	1	2	SEMA3A	83430468	0.999000	0.42202	0.943000	0.38184	0.949000	0.60115	4.913000	0.63341	0.841000	0.35020	0.650000	0.86243	CGA		0.388	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		47	133	0	0	0	1	0	47	133				
GLB1L2	89944	broad.mit.edu	37	11	134239698	134239698	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239698G>T	ENST00000535456.2	+	11	1215		c.e11-1		GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000389881.3_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGTCTTGCAGACTATGATGC	0.547																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e11-1		galactosidase, beta 1-like 2							169.0	155.0	160.0					11																	134239698		2201	4297	6498	SO:0001630	splice_region_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134239698G>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1028-1G>T	11.37:g.134239698G>T						GLB1L2_ENST00000389881.3_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site		NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	11	1215	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)						A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Splice_Site	SNP	ENST00000535456.2	37		CCDS31724.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444641	0.83993	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881;ENST00000525089;ENST00000533324	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5195	0.90947	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLB1L2	133744908	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.854000	0.92228	2.668000	0.90789	0.655000	0.94253	.		0.547	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	Intron	66	58	1	0	5.61366e-43	1	7.57762e-43	66	58				
PCBD1	5092	broad.mit.edu	37	10	72644921	72644921	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72644921G>A	ENST00000299299.3	-	3	454	c.204C>T	c.(202-204)aaC>aaT	p.N68N	PCBD1_ENST00000493228.1_5'UTR	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	68					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|regulation of protein homodimerization activity (GO:0043496)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|identical protein binding (GO:0042802)|phenylalanine 4-monooxygenase activity (GO:0004505)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(1)	4						TGTTGTACACGTTAAACCATT	0.488																																						ENST00000299299.3																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(202-204)aaC>aaT		pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha							229.0	166.0	187.0					10																	72644921		2203	4300	6503	SO:0001819	synonymous_variant	5092				L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity	g.chr10:72644921G>A	BC006324	CCDS31217.1	10q22	2014-04-01	2007-11-06	2005-02-11	ENSG00000166228	ENSG00000166228	4.2.1.96		8646	protein-coding gene	gene with protein product	"""Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)"", ""pterin-4-alpha carbinolamine dehydratase"", ""dimerizing cofactor for HNF1"""	126090	"""6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)"", ""pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)"""	DCOH, PCBD		8486378	Standard	XM_005269877		Approved	PCD	uc001jrn.1	P61457	OTTHUMG00000018417	ENST00000299299.3:c.204C>T	10.37:g.72644921G>A						PCBD1_ENST00000493228.1_5'UTR	p.N68N	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN			3	454	-			68					P70519|P80095|Q9D930	Silent	SNP	ENST00000299299.3	37	c.204C>T	CCDS31217.1																																																																																				0.488	PCBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048527.1	NM_000281		24	44	0	0	0	1	0	24	44				
MUC17	140453	broad.mit.edu	37	7	100683337	100683337	+	Silent	SNP	G	G	A	rs576967502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683337G>A	ENST00000306151.4	+	3	8704	c.8640G>A	c.(8638-8640)ccG>ccA	p.P2880P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2880	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2880P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACGCCGGTGGCCAGTT	0.488													g|||	1	0.000199681	0.0	0.0	5008	,	,		27070	0.001		0.0	False		,,,				2504	0.0					ENST00000306151.4																			1	Substitution - coding silent(1)	p.P2880P(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8638-8640)ccG>ccA		mucin 17, cell surface associated							259.0	270.0	266.0					7																	100683337		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683337G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8640G>A	7.37:g.100683337G>A							p.P2880P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8704	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2880			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.8640G>A	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		35	372	0	0	0	1	0	35	372				
NUDT14	256281	broad.mit.edu	37	14	105643109	105643109	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105643109C>A	ENST00000392568.2	-	4	284		c.e4-1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCATACACAGCTGCGTGGGAA	0.677										HNSCC(42;0.11)																												ENST00000392568.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.e4-1		nudix (nucleoside diphosphate linked moiety X)-type motif 14							34.0	39.0	37.0					14																	105643109		2196	4291	6487	SO:0001630	splice_region_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643109C>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.191-1G>T	14.37:g.105643109C>A		HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA		NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	284	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)						Q86SJ8	Splice_Site	SNP	ENST00000392568.2	37		CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182988	0.38511	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8116	0.52185	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUDT14	104714154	1.000000	0.71417	0.998000	0.56505	0.481000	0.33189	5.388000	0.66249	2.495000	0.84180	0.563000	0.77884	.		0.677	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533	Intron	7	45	1	0	2.0095e-06	1	2.31757e-06	7	45				
ACAP3	116983	broad.mit.edu	37	1	1234013	1234013	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1234013G>T	ENST00000354700.5	-	11	999	c.797C>A	c.(796-798)cCc>cAc	p.P266H	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.P224H	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	266					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCCACTGGGCGCGTCCAC	0.637																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(796-798)cCc>cAc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							67.0	70.0	69.0					1																	1234013		2200	4296	6496	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1234013G>T	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.797C>A	1.37:g.1234013G>T	ENSP00000346733:p.Pro266His					ACAP3_ENST00000353662.3_Missense_Mutation_p.P224H	p.P266H	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			11	999	-			266					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.797C>A	CCDS19.2	.	.	.	.	.	.	.	.	.	.	g	14.99	2.700175	0.48307	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04551	3.6;3.6	3.17	3.17	0.36434	Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.20901	0.0503	M	0.77103	2.36	0.37326	D	0.909778	D;D	0.89917	0.998;1.0	D;D	0.91635	0.964;0.999	T	0.19224	-1.0312	10	0.62326	D	0.03	.	14.906	0.70718	0.0:0.0:1.0:0.0	.	266;224	Q96P50;Q96P50-1	ACAP3_HUMAN;.	H	266;224	ENSP00000346733:P266H;ENSP00000321139:P224H	ENSP00000321139:P224H	P	-	2	0	ACAP3	1223876	1.000000	0.71417	0.954000	0.39281	0.236000	0.25371	9.034000	0.93747	1.806000	0.52798	0.450000	0.29827	CCC		0.637	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		6	32	1	0	0.0381472	1	0.0390147	6	32				
CBX6	23466	broad.mit.edu	37	22	39262866	39262866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262866G>T	ENST00000407418.3	-	5	710	c.587C>A	c.(586-588)gCg>gAg	p.A196E	CBX6_ENST00000216083.6_Missense_Mutation_p.A178E			O95503	CBX6_HUMAN	chromobox homolog 6	196					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					gcgggccagcgccccggcccc	0.662																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(586-588)gCg>gAg		chromobox homolog 6							18.0	19.0	18.0					22																	39262866		2201	4287	6488	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262866G>T		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.587C>A	22.37:g.39262866G>T	ENSP00000384490:p.Ala196Glu					CBX6_ENST00000216083.6_Missense_Mutation_p.A178E	p.A196E			O95503	CBX6_HUMAN			5	710	-	Melanoma(58;0.04)		196					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.587C>A	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275925	0.23307	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.33	3.29	0.37713	.	1.000900	0.08063	N	0.998500	T	0.26159	0.0638	N	0.24115	0.695	0.09310	N	1	B	0.23650	0.089	B	0.23275	0.045	T	0.17561	-1.0365	9	0.02654	T	1	.	9.3992	0.38422	0.0:0.1303:0.566:0.3037	.	196	O95503	CBX6_HUMAN	E	196;178	.	ENSP00000216083:A178E	A	-	2	0	CBX6	37592812	0.074000	0.21230	0.284000	0.24805	0.445000	0.32107	1.459000	0.35234	0.958000	0.37956	0.407000	0.27541	GCG		0.662	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		6	11	1	0	0.248553	1	0.25002	6	11				
SLAMF6	114836	broad.mit.edu	37	1	160461053	160461053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160461053C>A	ENST00000368057.3	-	3	568	c.508G>T	c.(508-510)Gga>Tga	p.G170*	SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.G59*|SLAMF6_ENST00000368059.3_Nonsense_Mutation_p.G170*			Q96DU3	SLAF6_HUMAN	SLAM family member 6	170	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGTGTGTTTCCCAAGGCCTCC	0.483																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(508-510)Gga>Tga		SLAM family member 6							164.0	151.0	156.0					1																	160461053		2203	4300	6503	SO:0001587	stop_gained	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160461053C>A	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.508G>T	1.37:g.160461053C>A	ENSP00000357036:p.Gly170*					SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.G59*|SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.G170*	p.G170*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		3	577	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		170			Ig-like.		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Nonsense_Mutation	SNP	ENST00000368057.3	37	c.508G>T	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186811	0.57909	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	.	.	.	4.37	4.37	0.52481	.	0.620194	0.13769	N	0.364047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-2.4939	12.6054	0.56521	0.0:1.0:0.0:0.0	.	.	.	.	X	170;170;59	.	ENSP00000357034:G59X	G	-	1	0	SLAMF6	158727677	0.018000	0.18449	0.207000	0.23584	0.118000	0.20060	1.360000	0.34125	2.435000	0.82474	0.655000	0.94253	GGA		0.483	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		11	87	1	0	9.31168e-06	1	1.06029e-05	11	87				
SAMD7	344658	broad.mit.edu	37	3	169644693	169644693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644693G>A	ENST00000428432.2	+	6	1032	c.643G>A	c.(643-645)Gca>Aca	p.A215T	SAMD7_ENST00000335556.3_Missense_Mutation_p.A215T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	215										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCAGACTCATGCAGTTCCCTA	0.433																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(643-645)Gca>Aca		sterile alpha motif domain containing 7							86.0	86.0	86.0					3																	169644693		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644693G>A	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.643G>A	3.37:g.169644693G>A	ENSP00000391299:p.Ala215Thr					SAMD7_ENST00000335556.3_Missense_Mutation_p.A215T	p.A215T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1032	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		215						Missense_Mutation	SNP	ENST00000428432.2	37	c.643G>A	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588608	0.28357	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.43294	0.95;0.95	6.16	-0.626	0.11544	.	0.980375	0.08412	N	0.949767	T	0.21145	0.0509	N	0.11560	0.145	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.26538	-1.0100	10	0.20046	T	0.44	-0.1454	7.6396	0.28286	0.4146:0.1015:0.4839:0.0	.	215	Q7Z3H4	SAMD7_HUMAN	T	215	ENSP00000391299:A215T;ENSP00000334668:A215T	ENSP00000334668:A215T	A	+	1	0	SAMD7	171127387	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.040000	0.13905	-0.147000	0.11254	0.650000	0.86243	GCA		0.433	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		9	58	0	0	0	1	0	9	58				
CBS	875	broad.mit.edu	37	21	44486415	44486415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44486415G>A	ENST00000398165.3	-	5	648	c.389C>T	c.(388-390)gCt>gTt	p.A130V	CBS_ENST00000352178.5_Missense_Mutation_p.A130V|CBS_ENST00000398158.1_Missense_Mutation_p.A130V|CBS_ENST00000359624.3_Missense_Mutation_p.A130V|CBS_ENST00000544202.1_Missense_Mutation_p.A42V|CBS_ENST00000398168.1_Missense_Mutation_p.A130V|CBS_ENST00000470912.1_5'UTR	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	130					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	GTCGCGCTCAGCATCCTCAAT	0.647																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(388-390)gCt>gTt		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						84.0	73.0	77.0					21																	44486415		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44486415G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.389C>T	21.37:g.44486415G>A	ENSP00000381231:p.Ala130Val					CBS_ENST00000352178.5_Missense_Mutation_p.A130V|CBS_ENST00000359624.3_Missense_Mutation_p.A130V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398158.1_Missense_Mutation_p.A130V|CBS_ENST00000398168.1_Missense_Mutation_p.A130V|CBS_ENST00000544202.1_Missense_Mutation_p.A42V	p.A130V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			5	648	-			130					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.389C>T	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432343	0.83776	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202;ENST00000441030	D;D;D;D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98	5.26	5.26	0.73747	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.054132	0.85682	N	0.000000	D	0.99771	0.9906	H	0.98818	4.34	0.58432	D	0.999999	D;D	0.76494	0.999;0.969	D;D	0.80764	0.994;0.922	D	0.96888	0.9651	10	0.87932	D	0	-17.7775	16.6599	0.85238	0.0:0.0:1.0:0.0	.	130;87	P35520;B7Z2D6	CBS_HUMAN;.	V	130;130;130;130;130;87;42;130	ENSP00000381225:A130V;ENSP00000381231:A130V;ENSP00000352643:A130V;ENSP00000344460:A130V;ENSP00000381234:A130V;ENSP00000439332:A42V;ENSP00000388235:A130V	ENSP00000344460:A130V	A	-	2	0	CBS	43359484	1.000000	0.71417	0.255000	0.24374	0.293000	0.27360	8.379000	0.90146	2.434000	0.82447	0.655000	0.94253	GCT		0.647	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		16	42	0	0	0	1	0	16	42				
POM121L9P	29774	broad.mit.edu	37	22	24658503	24658503	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24658503G>A	ENST00000414583.2	+	0	2920					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGTCCGTCTCGCTCATCATCA	0.572																																						ENST00000414583.2																			0																																																			0							g.chr22:24658503G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24658503G>A								NR_003714.1						0	2920	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.572	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		11	12	0	0	0	1	0	11	12				
N4BP2	55728	broad.mit.edu	37	4	40133443	40133443	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40133443A>G	ENST00000261435.6	+	13	4966	c.4550A>G	c.(4549-4551)gAa>gGa	p.E1517G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1517					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTTATGTTTGAAAAAGATTGT	0.343																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4549-4551)gAa>gGa		NEDD4 binding protein 2							76.0	77.0	77.0					4																	40133443		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40133443A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4550A>G	4.37:g.40133443A>G	ENSP00000261435:p.Glu1517Gly						p.E1517G	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			13	4966	+			1517					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4550A>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.42|17.42	3.386249|3.386249	0.61956|0.61956	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19938|.	2.11|.	5.23|5.23	4.01|4.01	0.46588|0.46588	.|.	0.502641|.	0.20181|.	N|.	0.097527|.	T|.	0.21145|.	0.0509|.	N|N	0.22421|0.22421	0.69|0.69	0.28634|0.28634	N|N	0.907532|0.907532	D;D|.	0.60575|.	0.988;0.979|.	P;P|.	0.56216|.	0.794;0.628|.	T|.	0.18935|.	-1.0321|.	10|.	0.56958|.	D|.	0.05|.	-7.4613|-7.4613	1.2695|1.2695	0.02018|0.02018	0.5264:0.1827:0.1153:0.1756|0.5264:0.1827:0.1153:0.1756	.|.	1517;1517|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	G|W	1517;1437|1163	ENSP00000261435:E1517G|.	ENSP00000261435:E1517G|.	E|X	+|+	2|3	0|0	N4BP2|N4BP2	39809838|39809838	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	1.631000|1.631000	0.37092|0.37092	0.791000|0.791000	0.33826|0.33826	0.402000|0.402000	0.26972|0.26972	GAA|TGA		0.343	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		16	28	0	0	0	1	0	16	28				
DPF1	8193	broad.mit.edu	37	19	38703001	38703001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38703001C>T	ENST00000420980.2	-	10	1017	c.991G>A	c.(991-993)Gac>Aac	p.D331N	DPF1_ENST00000412732.1_Splice_Site_p.D283N|DPF1_ENST00000416611.1_Missense_Mutation_p.D349N|DPF1_ENST00000355526.4_Splice_Site_p.D365N|DPF1_ENST00000414789.1_Splice_Site_p.D283N|DPF1_ENST00000456296.1_Splice_Site_p.D339N	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	331					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCAGCTGGTCCTGGGGGGTG	0.687																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(1045-1047)Gac>Aac		D4, zinc and double PHD fingers family 1							11.0	11.0	11.0					19																	38703001		2151	4183	6334	SO:0001583	missense	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38703001C>T	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.991G>A	19.37:g.38703001C>T	ENSP00000397354:p.Asp331Asn					DPF1_ENST00000412732.1_Splice_Site_p.D283_splice|DPF1_ENST00000420980.2_Missense_Mutation_p.D331N|DPF1_ENST00000414789.1_Splice_Site_p.D283_splice|DPF1_ENST00000456296.1_Splice_Site_p.D339_splice|DPF1_ENST00000355526.4_Splice_Site_p.D365_splice	p.D349N			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		11	1168	-	all_cancers(60;1.24e-06)		331					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.1045G>A	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861558|4.861558	0.91433|0.91433	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296|ENST00000355526	D;D;D;D;D|.	0.87179|.	-2.22;-2.22;-2.22;-2.22;-2.22|.	3.71|3.71	3.71|3.71	0.42584|0.42584	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.64402|.	U|.	0.000013|.	T|T	0.69975|0.69975	0.3171|0.3171	M|M	0.64260|0.64260	1.97|1.97	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;B;D|.	0.56968|.	0.532;0.336;0.623;0.426;0.978|.	P;P;P;P;D|.	0.69479|.	0.689;0.745;0.814;0.628;0.964|.	T|T	0.70521|0.70521	-0.4849|-0.4849	10|5	0.87932|.	D|.	0|.	-23.3864|-23.3864	14.4702|14.4702	0.67512|0.67512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	349;348;365;365;331|.	E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782|.	.;.;.;.;DPF1_HUMAN|.	N|Q	331;365;283;349;283;339|357	ENSP00000397354:D331N;ENSP00000412098:D283N;ENSP00000390223:D349N;ENSP00000391884:D283N;ENSP00000411569:D339N|.	ENSP00000412098:D283N|.	D|R	-|-	1|2	0|0	DPF1|DPF1	43394841|43394841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.614000|5.614000	0.67695|0.67695	1.896000|1.896000	0.54893|0.54893	0.579000|0.579000	0.79373|0.79373	GAC|CGA		0.687	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			8	7	0	0	0	1	0	8	7				
SCN11A	11280	broad.mit.edu	37	3	38938518	38938518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38938518G>A	ENST00000302328.3	-	14	2419	c.2221C>T	c.(2221-2223)Ccg>Tcg	p.P741S	SCN11A_ENST00000450244.1_Missense_Mutation_p.P741S|SCN11A_ENST00000444237.2_Missense_Mutation_p.P741S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P741S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	741					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGACTGTCGGGCCTGTCGGG	0.488																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2221-2223)Ccg>Tcg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						109.0	99.0	103.0					3																	38938518		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938518G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2221C>T	3.37:g.38938518G>A	ENSP00000307599:p.Pro741Ser					SCN11A_ENST00000456224.3_Missense_Mutation_p.P741S|SCN11A_ENST00000444237.2_Missense_Mutation_p.P741S|SCN11A_ENST00000302328.3_Missense_Mutation_p.P741S	p.P741S			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2419	-			741					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2221C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	0.786	-0.760677	0.02996	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	5.43	-9.71	0.00518	Ion transport (1);	3.067170	0.00864	N	0.001952	D	0.91102	0.7199	N	0.11064	0.09	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	D	0.88067	0.2798	10	0.02654	T	1	.	6.3558	0.21400	0.4365:0.0:0.2499:0.3136	.	741	Q9UI33	SCNBA_HUMAN	S	741	ENSP00000307599:P741S;ENSP00000400945:P741S;ENSP00000416757:P741S;ENSP00000408028:P741S	ENSP00000307599:P741S	P	-	1	0	SCN11A	38913522	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.989000	0.03736	-2.105000	0.00842	-0.284000	0.09977	CCG		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	49	0	0	0	1	0	4	49				
SLC38A8	146167	broad.mit.edu	37	16	84065494	84065494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84065494G>A	ENST00000299709.3	-	4	609	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	204					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGACTCACGCACGAGGCCC	0.622																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(610-612)Cgt>Tgt		solute carrier family 38, member 8							126.0	105.0	112.0					16																	84065494		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84065494G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.610C>T	16.37:g.84065494G>A	ENSP00000299709:p.Arg204Cys						p.R204C	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			4	609	-			204						Missense_Mutation	SNP	ENST00000299709.3	37	c.610C>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805183	0.50315	.	.	ENSG00000166558	ENST00000299709	T	0.02323	4.34	5.09	3.07	0.35406	.	1.411100	0.04099	N	0.312492	T	0.06917	0.0176	L	0.40543	1.245	0.09310	N	1	D	0.57571	0.98	P	0.54372	0.75	T	0.30851	-0.9964	10	0.56958	D	0.05	.	5.191	0.15209	0.0749:0.2705:0.5149:0.1397	.	204	A6NNN8	S38A8_HUMAN	C	204	ENSP00000299709:R204C	ENSP00000299709:R204C	R	-	1	0	SLC38A8	82622995	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.921000	0.28718	0.635000	0.30488	0.549000	0.68633	CGT		0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		7	87	0	0	0	1	0	7	87				
KLHL9	55958	broad.mit.edu	37	9	21333832	21333832	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21333832C>A	ENST00000359039.4	-	1	1547	c.1027G>T	c.(1027-1029)Gct>Tct	p.A343S	KLHL9_ENST00000537938.1_Missense_Mutation_p.A275S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	343					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAATGACAGCAATACCATGC	0.408																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(1027-1029)Gct>Tct		kelch-like family member 9							128.0	126.0	127.0					9																	21333832		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333832C>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1027G>T	9.37:g.21333832C>A	ENSP00000351933:p.Ala343Ser					KLHL9_ENST00000537938.1_Missense_Mutation_p.A275S	p.A343S			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1547	-			343					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.1027G>T	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815656	0.70912	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.80824	-1.42;-1.42	5.13	5.13	0.70059	Galactose oxidase, beta-propeller (1);	0.122950	0.53938	D	0.000052	D	0.89378	0.6698	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89720	0.3918	10	0.52906	T	0.07	.	16.4524	0.83996	0.0:1.0:0.0:0.0	.	343	Q9P2J3	KLHL9_HUMAN	S	343;275	ENSP00000351933:A343S;ENSP00000437733:A275S	ENSP00000351933:A343S	A	-	1	0	KLHL9	21323832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	2.572000	0.86782	0.650000	0.86243	GCT		0.408	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		38	61	1	0	8.69298e-16	1	1.1177e-15	38	61				
NRDE2	55051	broad.mit.edu	37	14	90770309	90770309	+	Silent	SNP	C	C	T	rs558291461		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90770309C>T	ENST00000354366.3	-	5	1207	c.975G>A	c.(973-975)acG>acA	p.T325T	NRDE2_ENST00000357904.3_Silent_p.T94T	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	325																	TCCACAGCTGCGTATCCCGAG	0.512																																						ENST00000354366.3																			0											c.(973-975)acG>acA		NRDE-2, necessary for RNA interference, domain containing							148.0	121.0	130.0					14																	90770309		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90770309C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.975G>A	14.37:g.90770309C>T						NRDE2_ENST00000357904.3_Silent_p.T94T	p.T325T	NM_017970.3	NP_060440.2					5	1207	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.975G>A	CCDS9890.1																																																																																				0.512	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		41	77	0	0	0	1	0	41	77				
DENND1C	79958	broad.mit.edu	37	19	6467591	6467591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467591G>A	ENST00000381480.2	-	23	2442	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	DENND1C_ENST00000543576.1_Missense_Mutation_p.P733L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	777					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTTGCTGGTGGGTGTAGCAGG	0.617																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(2329-2331)cCc>cTc		DENN/MADD domain containing 1C							38.0	41.0	40.0					19																	6467591		1912	4134	6046	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6467591G>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2330C>T	19.37:g.6467591G>A	ENSP00000370889:p.Pro777Leu					DENND1C_ENST00000543576.1_Missense_Mutation_p.P733L	p.P777L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			23	2442	-			777					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.2330C>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943391	0.34283	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.12255	2.87;2.7	4.69	2.41	0.29592	.	0.470662	0.15922	N	0.238073	T	0.09069	0.0224	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.29862	0.108	T	0.19976	-1.0289	10	0.72032	D	0.01	-4.0506	9.8478	0.41037	0.0:0.0:0.6276:0.3724	.	777	Q8IV53	DEN1C_HUMAN	L	777;733	ENSP00000370889:P777L;ENSP00000437805:P733L	ENSP00000370889:P777L	P	-	2	0	DENND1C	6418591	0.017000	0.18338	0.001000	0.08648	0.133000	0.20885	1.864000	0.39469	0.442000	0.26555	0.196000	0.17591	CCC		0.617	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		19	23	0	0	0	1	0	19	23				
RGMA	56963	broad.mit.edu	37	15	93595313	93595313	+	Silent	SNP	G	G	A	rs200507795		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93595313G>A	ENST00000329082.7	-	3	826	c.555C>T	c.(553-555)ggC>ggT	p.G185G	RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556087.1_Silent_p.G169G|RGMA_ENST00000542321.2_Silent_p.G169G|RGMA_ENST00000543599.1_Silent_p.G169G|RGMA_ENST00000557301.1_Silent_p.G193G|RGMA_ENST00000538818.1_Silent_p.G76G|RGMA_ENST00000556658.1_Silent_p.G76G|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000425933.2_Silent_p.G169G	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	185					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGGCCAGGCGCCCTGCACCT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17644	0.0		0.001	False		,,,				2504	0.0					ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(553-555)ggC>ggT		repulsive guidance molecule family member a		G	,,,,,	0,4142		0,0,2071	44.0	54.0	51.0		579,507,507,507,507,555	2.0	1.0	15		51	1,8373		0,1,4186	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RGMA	NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2	,,,,,	0,1,6257	AA,AG,GG		0.0119,0.0,0.0080	,,,,,	193/459,169/435,169/435,169/435,169/435,185/451	93595313	1,12515	2071	4187	6258	SO:0001819	synonymous_variant	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595313G>A	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.555C>T	15.37:g.93595313G>A						RGMA_ENST00000556658.1_Silent_p.G76G|RGMA_ENST00000556087.1_Silent_p.G169G|RGMA_ENST00000543599.1_Silent_p.G169G|RGMA_ENST00000542321.2_Silent_p.G169G|RGMA_ENST00000538818.1_Silent_p.G76G|RGMA_ENST00000557301.1_Silent_p.G193G|RGMA_ENST00000425933.2_Silent_p.G169G|RGMA_ENST00000557420.1_Intron	p.G185G	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	826	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		185					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	c.555C>T	CCDS45357.1																																																																																				0.627	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		6	9	0	0	0	1	0	6	9				
NFE2L3	9603	broad.mit.edu	37	7	26224454	26224454	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:26224454A>G	ENST00000056233.3	+	4	1395	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	379					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAAGCCAAGACCTACTGTAT	0.373																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1135-1137)gAc>gGc		nuclear factor, erythroid 2-like 3							83.0	85.0	85.0					7																	26224454		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224454A>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1136A>G	7.37:g.26224454A>G	ENSP00000056233:p.Asp379Gly						p.D379G	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1395	+			379					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1136A>G	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611859	0.28712	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.33216	1.42	5.05	5.05	0.67936	.	0.325063	0.35805	N	0.002962	T	0.33614	0.0869	M	0.67953	2.075	0.22787	N	0.998739	B	0.29766	0.256	B	0.24701	0.055	T	0.30679	-0.9970	10	0.52906	T	0.07	-17.7248	15.0935	0.72215	1.0:0.0:0.0:0.0	.	379	Q9Y4A8	NF2L3_HUMAN	G	379;85	ENSP00000056233:D379G	ENSP00000056233:D379G	D	+	2	0	NFE2L3	26190979	0.669000	0.27502	0.888000	0.34837	0.200000	0.23975	3.123000	0.50453	2.026000	0.59711	0.443000	0.29094	GAC		0.373	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			13	161	0	0	0	1	0	13	161				
P2RY4	5030	broad.mit.edu	37	X	69479340	69479340	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69479340G>T	ENST00000374519.2	-	1	314	c.135C>A	c.(133-135)gtC>gtA	p.V45V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	45					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCAGCACAAAGACAACTGCAT	0.567																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(133-135)gtC>gtA		pyrimidinergic receptor P2Y, G-protein coupled, 4							72.0	53.0	59.0					X																	69479340		2203	4300	6503	SO:0001819	synonymous_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69479340G>T	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.135C>A	X.37:g.69479340G>T							p.V45V	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	314	-			45					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.135C>A	CCDS14398.1																																																																																				0.567	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		5	9	1	0	0.014758	1	0.0152625	5	9				
SLAMF9	89886	broad.mit.edu	37	1	159921585	159921585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159921585G>A	ENST00000368093.3	-	4	852	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.L155F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	246						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTACCAAGAGCAAGAAGATG	0.483																																						ENST00000368093.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(736-738)Ctc>Ttc		SLAM family member 9							111.0	104.0	106.0					1																	159921585		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159921585G>A	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.736C>T	1.37:g.159921585G>A	ENSP00000357072:p.Leu246Phe					SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.L155F	p.L246F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	852	-	all_hematologic(112;0.093)		246					Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.736C>T	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630277	0.46944	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	T;T	0.59772	3.02;0.24	4.94	2.03	0.26663	.	1.582920	0.03558	N	0.226606	T	0.19485	0.0468	.	.	.	0.09310	N	1	B;B	0.23540	0.087;0.053	B;B	0.27887	0.084;0.028	T	0.12837	-1.0532	8	.	.	.	-13.6182	4.2277	0.10589	0.1896:0.0:0.6288:0.1816	.	155;246	Q96A28-2;Q96A28	.;SLAF9_HUMAN	F	246;155	ENSP00000357072:L246F;ENSP00000357071:L155F	.	L	-	1	0	SLAMF9	158188209	0.964000	0.33143	0.013000	0.15412	0.013000	0.08279	1.900000	0.39828	0.272000	0.22027	-0.136000	0.14681	CTC		0.483	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		30	41	0	0	0	1	0	30	41				
TIMP3	7078	broad.mit.edu	37	22	33255339	33255339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33255339G>A	ENST00000266085.6	+	5	912	c.611G>A	c.(610-612)aGc>aAc	p.S204N	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	204			S -> C (in SFD). {ECO:0000269|PubMed:7894485}.		cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGGATAAAAGCATCATCAAT	0.592																																						ENST00000266085.6																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(610-612)aGc>aAc		TIMP metallopeptidase inhibitor 3							52.0	43.0	46.0					22																	33255339		2203	4300	6503	SO:0001583	missense	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255339G>A		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.611G>A	22.37:g.33255339G>A	ENSP00000266085:p.Ser204Asn					SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	p.S204N	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN			5	912	+			204		S -> C (in SFD).			B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	ENST00000266085.6	37	c.611G>A	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167699	0.38315	.	.	ENSG00000100234	ENST00000266085;ENST00000538671	D	0.94650	-3.48	3.91	1.57	0.23409	.	0.361223	0.30547	N	0.009399	D	0.85173	0.5636	N	0.03608	-0.345	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.80171	-0.1493	10	0.72032	D	0.01	-16.4325	12.6085	0.56538	0.0:0.6221:0.3779:0.0	.	204	P35625	TIMP3_HUMAN	N	204;138	ENSP00000266085:S204N	ENSP00000266085:S204N	S	+	2	0	TIMP3	31585339	0.999000	0.42202	0.935000	0.37517	0.996000	0.88848	1.899000	0.39818	0.827000	0.34685	0.561000	0.74099	AGC		0.592	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		6	9	0	0	0	1	0	6	9				
SFSWAP	6433	broad.mit.edu	37	12	132212850	132212850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132212850G>A	ENST00000261674.4	+	7	1099	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	SFSWAP_ENST00000541286.1_Missense_Mutation_p.V320M	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	320					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTTGAAGGTAGTGGACCCAGA	0.537																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(958-960)Gtg>Atg		splicing factor, suppressor of white-apricot homolog (Drosophila)							180.0	147.0	158.0					12																	132212850		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132212850G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.958G>A	12.37:g.132212850G>A	ENSP00000261674:p.Val320Met					SFSWAP_ENST00000541286.1_Missense_Mutation_p.V320M	p.V320M	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			7	1099	+			320					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.958G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766598	0.49574	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.24151	2.86;1.87;2.86	5.61	5.61	0.85477	.	0.122425	0.64402	D	0.000005	T	0.27169	0.0666	L	0.48362	1.52	0.47949	D	0.999555	P;B;P	0.41673	0.669;0.342;0.759	B;B;B	0.38880	0.284;0.093;0.256	T	0.01998	-1.1232	10	0.46703	T	0.11	-28.0372	17.8127	0.88620	0.0:0.0:1.0:0.0	.	320;320;257	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	M	320;257;113;320	ENSP00000261674:V320M;ENSP00000443045:V113M;ENSP00000437738:V320M	ENSP00000261674:V320M	V	+	1	0	SFSWAP	130778803	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.105000	0.64591	2.652000	0.90054	0.655000	0.94253	GTG		0.537	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		6	91	0	0	0	1	0	6	91				
HAT1	8520	broad.mit.edu	37	2	172809432	172809432	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172809432C>A	ENST00000264108.4	+	4	258	c.222C>A	c.(220-222)atC>atA	p.I74I	HAT1_ENST00000392584.1_De_novo_Start_InFrame|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	74					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCTAAAGATCCTGTTATACT	0.338																																						ENST00000392584.1																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19								histone acetyltransferase 1							118.0	115.0	116.0					2																	172809432		2203	4300	6503	SO:0001819	synonymous_variant	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172809432C>A	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.222C>A	2.37:g.172809432C>A						HAT1_ENST00000264108.4_Silent_p.I74I|SLC25A12_ENST00000472748.1_Intron				O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		0	199	+								Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Translation_Start_Site	SNP	ENST00000264108.4	37		CCDS2245.1																																																																																				0.338	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		14	27	1	0	0.00244969	1	0.00259885	14	27				
ATAD5	79915	broad.mit.edu	37	17	29185232	29185232	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185232G>T	ENST00000321990.4	+	9	3225	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	949					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTTGCTTGAGGAAATTAGGT	0.323																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(2845-2847)gaG>gaT		ATPase family, AAA domain containing 5							81.0	79.0	80.0					17																	29185232		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29185232G>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2847G>T	17.37:g.29185232G>T	ENSP00000313171:p.Glu949Asp					CTD-2349P21.11_ENST00000580873.1_RNA	p.E949D	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			9	3225	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	949					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.2847G>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072502	0.36566	.	.	ENSG00000176208	ENST00000321990	D	0.86030	-2.06	5.97	2.93	0.34026	.	0.105212	0.64402	D	0.000004	D	0.85371	0.5681	M	0.71581	2.175	0.38565	D	0.949808	P;P	0.51653	0.947;0.818	P;B	0.48524	0.58;0.386	T	0.83140	-0.0109	10	0.32370	T	0.25	.	11.0149	0.47682	0.1955:0.0:0.8045:0.0	.	949;949	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	D	949	ENSP00000313171:E949D	ENSP00000313171:E949D	E	+	3	2	ATAD5	26209358	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.033000	0.30191	0.422000	0.26005	0.591000	0.81541	GAG		0.323	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		31	42	1	0	8.88839e-20	1	1.16435e-19	31	42				
MLLT6	4302	broad.mit.edu	37	17	36865496	36865496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36865496G>A	ENST00000325718.7	+	5	516	c.425G>A	c.(424-426)cGc>cAc	p.R142H	CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Missense_Mutation_p.R142H	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	142					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCTGTAACCGCCATGGATGT	0.637			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(424-426)cGc>cAc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							138.0	138.0	138.0					17																	36865496		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36865496G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.425G>A	17.37:g.36865496G>A	ENSP00000316426:p.Arg142His					MLLT6_ENST00000378137.5_Missense_Mutation_p.R142H	p.R142H	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			5	516	+	Breast(7;4.43e-21)		142					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.425G>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222126	0.58560	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	T;T	0.14266	2.52;2.52	4.39	3.43	0.39272	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.08118	0	0.38782	D	0.954798	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.70935	0.953;0.953;0.971	T	0.15206	-1.0445	10	0.62326	D	0.03	.	7.769	0.28997	0.1925:0.0:0.8075:0.0	.	142;142;142	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	H	142	ENSP00000316426:R142H;ENSP00000367377:R142H	ENSP00000316426:R142H	R	+	2	0	MLLT6	34119022	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	3.089000	0.50183	1.066000	0.40716	0.484000	0.47621	CGC		0.637	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		22	141	0	0	0	1	0	22	141				
FHOD3	80206	broad.mit.edu	37	18	34324063	34324063	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34324063G>A	ENST00000359247.4	+	19	3372	c.3372G>A	c.(3370-3372)tcG>tcA	p.S1124S	FHOD3_ENST00000592128.1_Silent_p.S120S|FHOD3_ENST00000590592.1_Silent_p.S1316S|FHOD3_ENST00000591635.1_Silent_p.S337S|FHOD3_ENST00000445677.1_Silent_p.S1103S|FHOD3_ENST00000257209.4_Silent_p.S1141S	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1124	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACAAGCAGTCGCTTCTCCACC	0.488																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3421-3423)tcG>tcA		formin homology 2 domain containing 3							122.0	111.0	114.0					18																	34324063		2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34324063G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3372G>A	18.37:g.34324063G>A						FHOD3_ENST00000592128.1_Silent_p.S120S|FHOD3_ENST00000359247.4_Silent_p.S1124S|FHOD3_ENST00000591635.1_Silent_p.S337S|FHOD3_ENST00000590592.1_Silent_p.S1316S|FHOD3_ENST00000445677.1_Silent_p.S1103S	p.S1141S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			20	3545	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1124			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.3423G>A																																																																																					0.488	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		44	61	0	0	0	1	0	44	61				
NCBP2	22916	broad.mit.edu	37	3	196663927	196663927	+	Silent	SNP	G	G	A	rs151326192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196663927G>A	ENST00000321256.5	-	4	519	c.426C>T	c.(424-426)taC>taT	p.Y142Y	NCBP2_ENST00000422610.1_Silent_p.Y72Y|NCBP2_ENST00000447325.1_Silent_p.Y72Y|NCBP2_ENST00000467803.1_5'UTR|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Silent_p.Y89Y|NCBP2_ENST00000452404.2_Silent_p.Y124Y	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	142					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TCCCAGCATCGTAGTCCTGCC	0.453																																						ENST00000447325.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(214-216)taC>taT		nuclear cap binding protein subunit 2, 20kDa		G	,	0,4406		0,0,2203	164.0	142.0	150.0		267,426	-2.9	1.0	3	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCBP2	NM_001042540.1,NM_007362.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	89/104,142/157	196663927	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196663927G>A	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.426C>T	3.37:g.196663927G>A						NCBP2_ENST00000452404.2_Silent_p.Y124Y|NCBP2_ENST00000422610.1_Silent_p.Y72Y|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Silent_p.Y89Y|NCBP2_ENST00000321256.5_Silent_p.Y142Y	p.Y72Y			P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	4	565	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		142			RRM.		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Silent	SNP	ENST00000321256.5	37	c.216C>T	CCDS3323.1																																																																																				0.453	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		35	49	0	0	0	1	0	35	49				
MYO9B	4650	broad.mit.edu	37	19	17322563	17322563	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322563C>T	ENST00000594824.1	+	39	6185	c.6038C>T	c.(6037-6039)gCc>gTc	p.A2013V	MYO9B_ENST00000595618.1_Missense_Mutation_p.A2013V|MYO9B_ENST00000397274.2_Missense_Mutation_p.A2013V			Q13459	MYO9B_HUMAN	myosin IXB	2013	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGGAGCGGGCCGGGCGGGGG	0.687																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(6037-6039)gCc>gTc		myosin IXB							25.0	37.0	33.0					19																	17322563		1880	4097	5977	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17322563C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6038C>T	19.37:g.17322563C>T	ENSP00000471367:p.Ala2013Val					MYO9B_ENST00000397274.2_Missense_Mutation_p.A2013V|MYO9B_ENST00000594824.1_Missense_Mutation_p.A2013V	p.A2013V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			39	6190	+			2013			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.6038C>T		.	.	.	.	.	.	.	.	.	.	C	15.23	2.773007	0.49680	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.84800	-1.9	4.61	2.26	0.28386	.	0.450193	0.18609	N	0.136206	T	0.78013	0.4217	L	0.40543	1.245	0.09310	N	0.999992	P;B	0.35745	0.518;0.434	B;B	0.34536	0.141;0.185	T	0.66200	-0.5983	10	0.31617	T	0.26	.	13.411	0.60942	0.0:0.701:0.299:0.0	.	2013;2019	Q13459;Q4LE74	MYO9B_HUMAN;.	V	2013;358	ENSP00000380444:A2013V	ENSP00000314032:A358V	A	+	2	0	MYO9B	17183563	0.112000	0.22096	0.894000	0.35097	0.762000	0.43233	2.038000	0.41184	0.921000	0.36994	0.655000	0.94253	GCC		0.687	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			15	19	0	0	0	1	0	15	19				
PCDHAC2	56134	broad.mit.edu	37	5	140347585	140347585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347585C>T	ENST00000289269.5	+	1	1766	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTCCGACTGAATGGCTT	0.577																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1234-1236)Ctg>Ttg									90.0	86.0	87.0					5																	140347585		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347585C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1234C>T	5.37:g.140347585C>T						PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.L412L	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1766	+			412			Cadherin 4.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.1234C>T	CCDS4242.1																																																																																				0.577	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		7	86	0	0	0	1	0	7	86				
ILVBL	10994	broad.mit.edu	37	19	15227253	15227253	+	Missense_Mutation	SNP	G	G	A	rs147018373	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15227253G>A	ENST00000263383.3	-	11	1406	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ILVBL_ENST00000534378.1_Missense_Mutation_p.R316W|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	423						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TCGGCTTCCCGCAGCTCCTCC	0.647													G|||	11	0.00219649	0.0083	0.0	5008	,	,		17783	0.0		0.0	False		,,,				2504	0.0					ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1267-1269)Cgg>Tgg		ilvB (bacterial acetolactate synthase)-like		G	TRP/ARG	41,4365	44.6+/-78.6	0,41,2162	60.0	62.0	61.0		1267	4.4	1.0	19	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ILVBL	NM_006844.3	101	0,41,6462	AA,AG,GG		0.0,0.9305,0.3152	probably-damaging	423/633	15227253	41,12965	2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15227253G>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1267C>T	19.37:g.15227253G>A	ENSP00000263383:p.Arg423Trp					ILVBL_ENST00000534378.1_Missense_Mutation_p.R316W	p.R423W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			11	1406	-			423					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1267C>T	CCDS12325.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	15.17	2.754351	0.49362	0.009305	0.0	ENSG00000105135	ENST00000263383	T	0.46451	0.87	5.41	4.36	0.52297	.	0.311519	0.33670	N	0.004679	T	0.38878	0.1057	L	0.58101	1.795	0.38452	D	0.946993	D	0.56287	0.975	P	0.49528	0.614	T	0.52563	-0.8559	10	0.87932	D	0	-17.9557	11.2129	0.48808	0.0:0.0:0.6667:0.3333	.	423	A1L0T0	ILVBL_HUMAN	W	423	ENSP00000263383:R423W	ENSP00000263383:R423W	R	-	1	2	ILVBL	15088253	0.621000	0.27077	0.987000	0.45799	0.248000	0.25809	2.582000	0.46085	1.269000	0.44280	-0.314000	0.08810	CGG		0.647	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		24	49	0	0	0	1	0	24	49				
UFD1L	7353	broad.mit.edu	37	22	19452725	19452725	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19452725C>A	ENST00000263202.10	-	6	624	c.495G>T	c.(493-495)aaG>aaT	p.K165N	UFD1L_ENST00000360834.4_Splice_Site_p.K154N|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Splice_Site_p.K165N	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	165					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CTGGGCTCACCTTTTCATTAT	0.463																																						ENST00000263202.9																			0				large_intestine(3)|upper_aerodigestive_tract(1)	4						c.e6+1		ubiquitin fusion degradation 1 like (yeast)							144.0	122.0	130.0					22																	19452725		2203	4300	6503	SO:0001630	splice_region_variant	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19452725C>A	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.495+1G>T	22.37:g.19452725C>A						UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Splice_Site_p.K165_splice|UFD1L_ENST00000360834.4_Splice_Site_p.K154_splice	p.K165_splice	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN			6	624	-	Colorectal(54;0.0993)		165					A8MW31|Q9Y5N0	Splice_Site	SNP	ENST00000263202.10	37	c.495_splice	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901341	0.92035	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	T;T;T;D;D	0.95853	0.89;0.89;0.89;-3.83;-3.83	5.71	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	M	0.74881	2.28	0.80722	D	1	D;D;D	0.71674	0.995;0.988;0.998	D;D;D	0.74023	0.979;0.974;0.982	D	0.97067	0.9775	9	.	.	.	-19.656	14.4271	0.67222	0.0:0.9295:0.0:0.0705	.	165;165;165	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	N	165;154;165;201;69;154	ENSP00000263202:K165N;ENSP00000354079:K154N;ENSP00000382439:K165N;ENSP00000402136:K69N;ENSP00000406680:K154N	.	K	-	3	2	UFD1L	17832725	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.654000	0.61469	1.406000	0.46857	0.561000	0.74099	AAG		0.463	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		Missense_Mutation	6	78	1	0	3.59834e-05	1	4.01776e-05	6	78				
KIF1B	23095	broad.mit.edu	37	1	10364195	10364195	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10364195G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377083.1_Missense_Mutation_p.E984D|KIF1B_ENST00000377093.4_Missense_Mutation_p.E984D			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGAAGATGAGGTTATAGAGC	0.458																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2950-2952)gaG>gaT		kinesin family member 1B							89.0	95.0	93.0					1																	10364195		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364195G>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6891G>T	1.37:g.10364195G>T						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.E984D|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron	p.E984D	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3105	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2952G>T		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849340	0.32699	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74106	-0.81;-0.81	5.35	3.49	0.39957	.	.	.	.	.	T	0.66499	0.2795	.	.	.	0.80722	D	1	B	0.28636	0.218	B	0.28305	0.088	T	0.64071	-0.6493	8	0.72032	D	0.01	.	9.7784	0.40634	0.2386:0.0:0.7614:0.0	.	984	O60333-3	.	D	984	ENSP00000366297:E984D;ENSP00000366287:E984D	ENSP00000366287:E984D	E	+	3	2	KIF1B	10286782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.423000	0.52756	0.651000	0.30788	0.563000	0.77884	GAG		0.458	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			10	131	1	0	7.48243e-07	1	8.70085e-07	10	131				
PLS3	5358	broad.mit.edu	37	X	114883751	114883751	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:114883751A>G	ENST00000420625.2	+	16	1897	c.1763A>G	c.(1762-1764)tAt>tGt	p.Y588C	PLS3_ENST00000355899.3_Missense_Mutation_p.Y588C|PLS3_ENST00000539310.1_Missense_Mutation_p.Y543C|PLS3_ENST00000289290.3_Missense_Mutation_p.Y552C|PLS3_ENST00000537301.1_Missense_Mutation_p.Y575C|PLS3_ENST00000543070.1_Missense_Mutation_p.Y182C	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	588	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TAAAATAGGTATGCAGTGTCA	0.413																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(1762-1764)tAt>tGt		plastin 3							114.0	100.0	104.0					X																	114883751		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114883751A>G	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1763A>G	X.37:g.114883751A>G	ENSP00000398945:p.Tyr588Cys					PLS3_ENST00000543070.1_Missense_Mutation_p.Y182C|PLS3_ENST00000539310.1_Missense_Mutation_p.Y543C|PLS3_ENST00000289290.3_Missense_Mutation_p.Y552C|PLS3_ENST00000355899.3_Missense_Mutation_p.Y588C|PLS3_ENST00000537301.1_Missense_Mutation_p.Y575C	p.Y588C	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			16	1897	+			588			Actin-binding 2.|CH 4.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.1763A>G	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.403043	0.42613	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.59	5.59	0.84812	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97932	0.9320	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98968	1.0800	10	0.87932	D	0	-15.4898	13.7285	0.62771	1.0:0.0:0.0:0.0	.	561;575;588	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	C	588;575;552;588;543;182	ENSP00000348163:Y588C;ENSP00000445105:Y575C;ENSP00000289290:Y552C;ENSP00000398945:Y588C;ENSP00000445339:Y543C;ENSP00000439260:Y182C	ENSP00000289290:Y552C	Y	+	2	0	PLS3	114790007	1.000000	0.71417	0.921000	0.36526	0.196000	0.23810	9.111000	0.94308	1.991000	0.58162	0.481000	0.45027	TAT		0.413	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			3	70	0	0	0	1	0	3	70				
TENM1	10178	broad.mit.edu	37	X	123517894	123517894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123517894G>A	ENST00000371130.3	-	29	6929	c.6866C>T	c.(6865-6867)tCg>tTg	p.S2289L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S2296L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2289					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTAATCTCCGAGCTTGTGTG	0.443																																						ENST00000422452.2																			0											c.(6886-6888)tCg>tTg		teneurin transmembrane protein 1							132.0	127.0	129.0					X																	123517894		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123517894G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6866C>T	X.37:g.123517894G>A	ENSP00000360171:p.Ser2289Leu					TENM1_ENST00000371130.3_Missense_Mutation_p.S2289L|STAG2_ENST00000469481.1_Intron	p.S2296L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6950	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6887C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475736	0.63737	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86230	-2.09;-2.06	5.66	3.9	0.45041	.	0.341684	0.31335	N	0.007839	T	0.79179	0.4402	L	0.36672	1.1	0.40890	D	0.984066	D;P;D	0.60575	0.968;0.93;0.988	B;B;B	0.38225	0.089;0.146;0.268	T	0.77770	-0.2463	10	0.52906	T	0.07	.	11.6609	0.51345	0.1417:0.0:0.8583:0.0	.	2295;2296;2289	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	2289;2296	ENSP00000360171:S2289L;ENSP00000403954:S2296L	ENSP00000360171:S2289L	S	-	2	0	ODZ1	123345575	1.000000	0.71417	0.518000	0.27811	0.989000	0.77384	6.722000	0.74735	0.550000	0.28991	0.600000	0.82982	TCG		0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		66	93	0	0	0	1	0	66	93				
ATXN7L2	127002	broad.mit.edu	37	1	110032686	110032686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032686C>T	ENST00000369870.3	+	8	1187	c.1172C>T	c.(1171-1173)aCa>aTa	p.T391I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	391										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGGAGGGGACATCTGACGAC	0.672																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1171-1173)aCa>aTa		ataxin 7-like 2							58.0	61.0	60.0					1																	110032686		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110032686C>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1172C>T	1.37:g.110032686C>T	ENSP00000358886:p.Thr391Ile						p.T391I	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	8	1187	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	391						Missense_Mutation	SNP	ENST00000369870.3	37	c.1172C>T	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275648	0.23307	.	.	ENSG00000162650	ENST00000369870;ENST00000541125;ENST00000369869	T	0.49139	0.79	5.68	2.76	0.32466	.	0.500075	0.20361	N	0.093853	T	0.18130	0.0435	L	0.43152	1.355	0.20764	N	0.99986	B	0.02656	0.0	B	0.04013	0.001	T	0.18429	-1.0337	10	0.37606	T	0.19	-0.0826	8.5494	0.33442	0.0:0.7528:0.0:0.2472	.	391	Q5T6C5	AT7L2_HUMAN	I	391;391;18	ENSP00000358886:T391I	ENSP00000358885:T18I	T	+	2	0	ATXN7L2	109834209	0.057000	0.20700	0.999000	0.59377	0.993000	0.82548	0.410000	0.21098	0.742000	0.32697	0.561000	0.74099	ACA		0.672	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		5	96	0	0	0	1	0	5	96				
EGFLAM	133584	broad.mit.edu	37	5	38435283	38435283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38435283C>T	ENST00000354891.3	+	16	2557	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	EGFLAM_ENST00000397202.2_Silent_p.G103G|EGFLAM_ENST00000322350.5_Silent_p.G737G|EGFLAM_ENST00000336740.6_Silent_p.G503G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	737	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTTCATTGGCGGAGTCCCCA	0.423																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2209-2211)ggC>ggT		EGF-like, fibronectin type III and laminin G domains							108.0	107.0	107.0					5																	38435283		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38435283C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2211C>T	5.37:g.38435283C>T						EGFLAM_ENST00000336740.6_Silent_p.G503G|EGFLAM_ENST00000397202.2_Silent_p.G103G|EGFLAM_ENST00000354891.3_Silent_p.G737G	p.G737G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			16	2557	+	all_lung(31;0.000385)		737			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2211C>T	CCDS56363.1																																																																																				0.423	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		30	38	0	0	0	1	0	30	38				
ZNF318	24149	broad.mit.edu	37	6	43306331	43306331	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43306331C>A	ENST00000361428.2	-	10	5482	c.5405G>T	c.(5404-5406)gGa>gTa	p.G1802V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1802					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGTGGGGTCCAATGCTGGT	0.423																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5404-5406)gGa>gTa		zinc finger protein 318							136.0	119.0	125.0					6																	43306331		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306331C>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5405G>T	6.37:g.43306331C>A	ENSP00000354964:p.Gly1802Val					ZNF318_ENST00000318149.3_Intron	p.G1802V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5482	-			1802					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5405G>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789641	0.16258	.	.	ENSG00000171467	ENST00000361428	T	0.13538	2.58	5.84	-2.78	0.05859	.	0.921633	0.09181	N	0.837371	T	0.05456	0.0144	L	0.29908	0.895	0.20489	N	0.999894	D	0.57257	0.979	P	0.52957	0.714	T	0.16837	-1.0389	10	0.72032	D	0.01	0.9123	4.1745	0.10345	0.2513:0.2926:0.0:0.4561	.	1802	Q5VUA4	ZN318_HUMAN	V	1802	ENSP00000354964:G1802V	ENSP00000354964:G1802V	G	-	2	0	ZNF318	43414309	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.454000	0.06770	-0.499000	0.06623	0.557000	0.71058	GGA		0.423	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		6	57	1	0	0.00307968	1	0.00325696	6	57				
EPB41L4A	64097	broad.mit.edu	37	5	111570340	111570340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111570340G>A	ENST00000261486.5	-	12	1354	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	360						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CCAGCTGGCTGTGTTTGTGCT	0.433																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(1078-1080)Cag>Tag		erythrocyte membrane protein band 4.1 like 4A							204.0	198.0	200.0					5																	111570340		1917	4138	6055	SO:0001587	stop_gained	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111570340G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1078C>T	5.37:g.111570340G>A	ENSP00000261486:p.Gln360*					RP11-526F3.1_ENST00000504004.1_RNA	p.Q360*	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	12	1354	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	360					A4FUI6	Nonsense_Mutation	SNP	ENST00000261486.5	37	c.1078C>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	38	7.269118	0.98175	.	.	ENSG00000129595	ENST00000261486	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	19.0921	0.93231	0.0:0.0:1.0:0.0	.	.	.	.	X	360	.	ENSP00000261486:Q360X	Q	-	1	0	EPB41L4A	111598239	1.000000	0.71417	0.927000	0.36925	0.935000	0.57460	6.478000	0.73596	2.809000	0.96659	0.655000	0.94253	CAG		0.433	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			6	112	0	0	0	1	0	6	112				
SORD	6652	broad.mit.edu	37	15	45361176	45361176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45361176G>T	ENST00000267814.9	+	7	892	c.712G>T	c.(712-714)Ggt>Tgt	p.G238C	SORD_ENST00000558580.1_Missense_Mutation_p.G217C	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	238					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		GAAAGTAGAAGGTCAGCTGGG	0.587																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(712-714)Ggt>Tgt		sorbitol dehydrogenase	NADH(DB00157)						31.0	36.0	34.0					15																	45361176		2198	4298	6496	SO:0001583	missense	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45361176G>T		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.712G>T	15.37:g.45361176G>T	ENSP00000267814:p.Gly238Cys					SORD_ENST00000558580.1_Missense_Mutation_p.G217C	p.G238C	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	7	892	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	238					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	c.712G>T	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247324	0.22880	.	.	ENSG00000140263	ENST00000267814	T	0.05925	3.37	4.74	-3.91	0.04168	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.624426	0.17929	N	0.157227	T	0.05640	0.0148	L	0.39397	1.21	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.16289	0.015;0.015	T	0.28902	-1.0029	10	0.52906	T	0.07	-14.844	12.3992	0.55404	0.7411:0.0:0.2589:0.0	.	159;238	B4DKI2;Q00796	.;DHSO_HUMAN	C	238	ENSP00000267814:G238C	ENSP00000267814:G238C	G	+	1	0	SORD	43148468	0.145000	0.22656	0.008000	0.14137	0.560000	0.35617	0.850000	0.27737	-0.619000	0.05648	0.462000	0.41574	GGT		0.587	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			3	12	1	0	1	1	1	3	12				
TXNRD2	10587	broad.mit.edu	37	22	19919881	19919881	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19919881T>C	ENST00000400518.1	-	1	195	c.12A>G	c.(10-12)caA>caG	p.Q4Q	TXNRD2_ENST00000491939.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000542719.1_Splice_Site_p.Q4Q|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000334363.9_Intron			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCGCCTCACCTTGGTCCTCCA	0.567																																						ENST00000400518.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.e1+1		thioredoxin reductase 2							208.0	187.0	194.0					22																	19919881		876	1991	2867	SO:0001630	splice_region_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19919881T>C	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400518.1:c.13+1A>G	22.37:g.19919881T>C						TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400525.1_Intron|TXNRD2_ENST00000542719.1_Splice_Site_p.Q4_splice|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000334363.9_Intron|TXNRD2_ENST00000491939.1_Intron|TXNRD2_ENST00000535882.1_Intron	p.Q4_splice			Q9NNW7	TRXR2_HUMAN			1	195	-	Colorectal(54;0.0993)		0					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Splice_Site	SNP	ENST00000400518.1	37	c.13_splice																																																																																					0.567	TXNRD2-004	KNOWN	NMD_exception|basic|appris_candidate|seleno	protein_coding	protein_coding	OTTHUMT00000314904.3	NM_006440	Silent	7	110	0	0	0	1	0	7	110				
HACE1	57531	broad.mit.edu	37	6	105244881	105244881	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105244881C>A	ENST00000262903.4	-	8	913	c.637G>T	c.(637-639)Gca>Tca	p.A213S	HACE1_ENST00000369125.2_Missense_Mutation_p.A213S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	213					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGATCTGTGCTGTATCTCTC	0.333																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(637-639)Gca>Tca		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							126.0	126.0	126.0					6																	105244881		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105244881C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.637G>T	6.37:g.105244881C>A	ENSP00000262903:p.Ala213Ser					HACE1_ENST00000369125.2_Missense_Mutation_p.A213S	p.A213S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	8	913	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	213					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.637G>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078497	0.76528	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645	T;T;T	0.66995	-0.24;-0.24;-0.24	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.69185	2.1	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.77004	0.989;0.983	T	0.79967	-0.1580	10	0.72032	D	0.01	.	19.2288	0.93829	0.0:1.0:0.0:0.0	.	213;213	E9PGP0;Q8IYU2	.;HACE1_HUMAN	S	213;213;169	ENSP00000262903:A213S;ENSP00000358121:A213S;ENSP00000429765:A169S	ENSP00000262903:A213S	A	-	1	0	HACE1	105351574	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.054000	0.76649	2.535000	0.85469	0.484000	0.47621	GCA		0.333	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		14	48	1	0	1.49906e-05	1	1.69169e-05	14	48				
ILF3	3609	broad.mit.edu	37	19	10792710	10792710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10792710C>T	ENST00000590261.1	+	11	1222	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	ILF3_ENST00000592763.1_Missense_Mutation_p.R408W|ILF3_ENST00000420083.1_Missense_Mutation_p.R408W|ILF3_ENST00000407004.3_Missense_Mutation_p.R408W|ILF3_ENST00000589998.1_Missense_Mutation_p.R408W|ILF3_ENST00000318511.3_Missense_Mutation_p.R408W|ILF3_ENST00000588657.1_Missense_Mutation_p.R408W|ILF3_ENST00000250241.8_Missense_Mutation_p.R408W|ILF3_ENST00000449870.1_Missense_Mutation_p.R408W			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	408	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGCCCTGATGCGGTTGAACCA	0.582																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1222-1224)Cgg>Tgg		interleukin enhancer binding factor 3, 90kDa							60.0	57.0	58.0					19																	10792710		2202	4300	6502	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10792710C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1222C>T	19.37:g.10792710C>T	ENSP00000468156:p.Arg408Trp					ILF3_ENST00000589998.1_Missense_Mutation_p.R408W|ILF3_ENST00000588657.1_Missense_Mutation_p.R408W|ILF3_ENST00000250241.8_Missense_Mutation_p.R408W|ILF3_ENST00000318511.3_Missense_Mutation_p.R408W|ILF3_ENST00000592763.1_Missense_Mutation_p.R408W|ILF3_ENST00000420083.1_Missense_Mutation_p.R408W|ILF3_ENST00000590261.1_Missense_Mutation_p.R408W|ILF3_ENST00000407004.3_Missense_Mutation_p.R408W	p.R408W	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		12	1539	+			408			DRBM 1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1222C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624187	0.66901	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.65	-1.33	0.09172	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.82323	2.585	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.998;0.999	P;D;D;D;P;D	0.72338	0.863;0.96;0.977;0.947;0.877;0.928	D	0.87426	0.2385	10	0.87932	D	0	.	15.8211	0.78644	0.6274:0.3726:0.0:0.0	.	408;408;408;408;408;408	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	W	408	ENSP00000404121:R408W;ENSP00000315205:R408W;ENSP00000405436:R408W;ENSP00000384660:R408W;ENSP00000250241:R408W	ENSP00000250241:R408W	R	+	1	2	ILF3	10653710	0.999000	0.42202	0.306000	0.25113	0.737000	0.42083	1.046000	0.30354	-0.416000	0.07473	0.655000	0.94253	CGG		0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			6	36	0	0	0	1	0	6	36				
GABPB1	2553	broad.mit.edu	37	15	50595196	50595196	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50595196C>A	ENST00000220429.8	-	4	569	c.401G>T	c.(400-402)aGt>aTt	p.S134I	GABPB1_ENST00000380877.3_Missense_Mutation_p.S134I|GABPB1_ENST00000560825.1_Missense_Mutation_p.S134I|GABPB1_ENST00000543881.1_Missense_Mutation_p.S58I|GABPB1_ENST00000429662.2_Missense_Mutation_p.S134I|GABPB1_ENST00000359031.4_Missense_Mutation_p.S134I|GABPB1_ENST00000396464.3_Missense_Mutation_p.S134I			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	134					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACAAAATTTACTTTGCGTGTG	0.333																																						ENST00000380877.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(400-402)aGt>aTt		GA binding protein transcription factor, beta subunit 1							126.0	117.0	120.0					15																	50595196		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50595196C>A	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.401G>T	15.37:g.50595196C>A	ENSP00000220429:p.Ser134Ile					GABPB1_ENST00000560825.1_Missense_Mutation_p.S134I|GABPB1_ENST00000429662.2_Missense_Mutation_p.S134I|GABPB1_ENST00000359031.4_Missense_Mutation_p.S134I|GABPB1_ENST00000543881.1_Missense_Mutation_p.S58I|GABPB1_ENST00000220429.8_Missense_Mutation_p.S134I|GABPB1_ENST00000396464.3_Missense_Mutation_p.S134I	p.S134I	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN			4	824	-			134					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.401G>T	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122707	0.94429	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T;T	0.46819	0.86;0.86;1.3;0.86;0.86;0.86	5.97	5.97	0.96955	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.63506	-0.6622	10	0.72032	D	0.01	-13.9199	20.4388	0.99107	0.0:1.0:0.0:0.0	.	134;134;134;134;134	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	I	134;134;58;134;134;134	ENSP00000220429:S134I;ENSP00000370259:S134I;ENSP00000442500:S58I;ENSP00000379728:S134I;ENSP00000395771:S134I;ENSP00000351923:S134I	ENSP00000220429:S134I	S	-	2	0	GABPB1	48382488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.743000	0.85020	2.836000	0.97738	0.655000	0.94253	AGT		0.333	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			7	60	1	0	0.00198382	1	0.00210581	7	60				
CNTRL	11064	broad.mit.edu	37	9	123886325	123886325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123886325G>A	ENST00000373855.1	+	13	2027	c.1767G>A	c.(1765-1767)acG>acA	p.T589T	CNTRL_ENST00000238341.5_Silent_p.T589T|CNTRL_ENST00000373850.1_Silent_p.T37T|CNTRL_ENST00000373847.1_Silent_p.T37T			Q7Z7A1	CNTRL_HUMAN	centriolin	589					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTAAGGAAACGGAAGAGATTA	0.348																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1765-1767)acG>acA		centriolin							132.0	125.0	128.0					9																	123886325		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123886325G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1767G>A	9.37:g.123886325G>A						CNTRL_ENST00000238341.5_Silent_p.T589T|CNTRL_ENST00000373850.1_Silent_p.T37T|CNTRL_ENST00000373847.1_Silent_p.T37T	p.T589T			Q7Z7A1	CNTRL_HUMAN			13	2027	+			589					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.1767G>A	CCDS35118.1																																																																																				0.348	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		57	67	0	0	0	1	0	57	67				
RBM12B	389677	broad.mit.edu	37	8	94748355	94748355	+	Missense_Mutation	SNP	C	C	T	rs569412856	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94748355C>T	ENST00000399300.2	-	3	497	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R95H|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	95							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATCCTGGACGCCCTCTTCC	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		19536	0.001		0.0	False		,,,				2504	0.001					ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(283-285)cGt>cAt		RNA binding motif protein 12B							178.0	171.0	173.0					8																	94748355		1864	4089	5953	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748355C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.284G>A	8.37:g.94748355C>T	ENSP00000382239:p.Arg95His					RBM12B_ENST00000517700.1_Missense_Mutation_p.R95H|RBM12B_ENST00000520961.1_Intron	p.R95H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	497	-	Breast(36;4.14e-07)		95					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.284G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697324	0.48202	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560	T;T;T;T;T	0.16897	2.87;2.92;2.31;2.33;2.37	5.51	5.51	0.81932	.	0.000000	0.47093	D	0.000246	T	0.16300	0.0392	N	0.24115	0.695	0.27954	N	0.937024	D	0.69078	0.997	P	0.50440	0.641	T	0.08126	-1.0737	10	0.62326	D	0.03	-12.0673	8.4526	0.32880	0.0:0.7112:0.2063:0.0825	.	95	Q8IXT5	RB12B_HUMAN	H	95	ENSP00000382239:R95H;ENSP00000427729:R95H;ENSP00000430474:R95H;ENSP00000428269:R95H;ENSP00000429807:R95H	ENSP00000382239:R95H	R	-	2	0	RBM12B	94817531	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	3.791000	0.55469	2.582000	0.87167	0.655000	0.94253	CGT		0.408	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		64	121	0	0	0	1	0	64	121				
FSCB	84075	broad.mit.edu	37	14	44975486	44975486	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:44975486C>A	ENST00000340446.4	-	1	996	c.705G>T	c.(703-705)agG>agT	p.R235S	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	235						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTACTTCTTCCCTAAGCTCAT	0.393																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(703-705)agG>agT		fibrous sheath CABYR binding protein							91.0	93.0	92.0					14																	44975486		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975486C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.705G>T	14.37:g.44975486C>A	ENSP00000344579:p.Arg235Ser						p.R235S	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	996	-			235					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.705G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	0.995	-0.692674	0.03303	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17691	2.26	3.87	-2.98	0.05513	.	.	.	.	.	T	0.06872	0.0175	N	0.22421	0.69	0.09310	N	1	P	0.37101	0.582	B	0.33392	0.163	T	0.33624	-0.9861	9	0.09338	T	0.73	17.7592	3.3385	0.07110	0.4363:0.2139:0.0:0.3499	.	235	Q5H9T9	FSCB_HUMAN	S	235	ENSP00000344579:R235S	ENSP00000344579:R235S	R	-	3	2	FSCB	44045236	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.219000	0.09228	-0.545000	0.06224	-0.794000	0.03295	AGG		0.393	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		34	69	1	0	5.8336e-16	1	7.50681e-16	34	69				
TMTC2	160335	broad.mit.edu	37	12	83251240	83251240	+	Missense_Mutation	SNP	G	G	A	rs142358970		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83251240G>A	ENST00000321196.3	+	2	1242	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TMTC2_ENST00000549919.1_Missense_Mutation_p.A173T|TMTC2_ENST00000548305.1_Missense_Mutation_p.A179T	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	179					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGGACTGTGCGCAGGATGCAG	0.473																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(517-519)Gca>Aca		transmembrane and tetratricopeptide repeat containing 2							107.0	85.0	93.0					12																	83251240		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251240G>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.535G>A	12.37:g.83251240G>A	ENSP00000322300:p.Ala179Thr					TMTC2_ENST00000548305.1_Missense_Mutation_p.A179T|TMTC2_ENST00000321196.3_Missense_Mutation_p.A179T	p.A173T			Q8N394	TMTC2_HUMAN			3	2322	+			179					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.517G>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735712	0.89482	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.62788	0.65;-0.0;0.55	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	L	0.50919	1.6	0.80722	D	1	D;P	0.57571	0.98;0.777	P;B	0.54210	0.745;0.334	T	0.60383	-0.7274	10	0.17369	T	0.5	-13.3243	18.1624	0.89712	0.0:0.0:1.0:0.0	.	179;179	Q8N394;F8VSH2	TMTC2_HUMAN;.	T	179;179;173	ENSP00000322300:A179T;ENSP00000448292:A179T;ENSP00000447609:A173T	ENSP00000322300:A179T	A	+	1	0	TMTC2	81775371	1.000000	0.71417	0.724000	0.30704	0.964000	0.63967	7.575000	0.82447	2.788000	0.95919	0.650000	0.86243	GCA		0.473	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		29	29	0	0	0	1	0	29	29				
ACVR1	90	broad.mit.edu	37	2	158594104	158594104	+	Missense_Mutation	SNP	C	C	T	rs554387941		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158594104C>T	ENST00000263640.3	-	11	1898	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	ACVR1_ENST00000409283.2_Missense_Mutation_p.R490H|AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000434821.1_Missense_Mutation_p.R490H|ACVR1_ENST00000410057.2_Missense_Mutation_p.R490H	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTTTTTGATACGCAGTGCTGT	0.393																																						ENST00000263640.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19						c.(1468-1470)cGt>cAt		activin A receptor, type I	Adenosine triphosphate(DB00171)						156.0	142.0	147.0					2																	158594104		2203	4300	6503	SO:0001583	missense	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158594104C>T		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1469G>A	2.37:g.158594104C>T	ENSP00000263640:p.Arg490His					ACVR1_ENST00000410057.2_Missense_Mutation_p.R490H|ACVR1_ENST00000409283.2_Missense_Mutation_p.R490H|ACVR1_ENST00000434821.1_Missense_Mutation_p.R490H	p.R490H	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	11	1898	-			490			Protein kinase.			Missense_Mutation	SNP	ENST00000263640.3	37	c.1469G>A	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721939	0.89298	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95548	0.8553	L	0.41079	1.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95356	0.8451	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	490	Q04771	ACVR1_HUMAN	H	490	ENSP00000263640:R490H;ENSP00000387273:R490H;ENSP00000405004:R490H;ENSP00000387127:R490H	ENSP00000263640:R490H	R	-	2	0	ACVR1	158302350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGT		0.393	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		35	35	0	0	0	1	0	35	35				
SSTR4	6754	broad.mit.edu	37	20	23016403	23016403	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016403C>A	ENST00000255008.3	+	1	347	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	95					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCGACGAGCTCTTCATGCT	0.657																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(283-285)Ctc>Atc		somatostatin receptor 4							110.0	115.0	113.0					20																	23016403		2201	4299	6500	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016403C>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.283C>A	20.37:g.23016403C>A	ENSP00000255008:p.Leu95Ile					RP4-753D10.3_ENST00000440921.1_RNA	p.L95I	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	347	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		95					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.283C>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373011	0.61624	.	.	ENSG00000132671	ENST00000255008	T	0.48201	0.82	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000074	T	0.63343	0.2503	L	0.58810	1.83	0.40585	D	0.981438	D	0.76494	0.999	D	0.78314	0.991	T	0.69375	-0.5162	10	0.87932	D	0	.	13.8938	0.63757	0.0:1.0:0.0:0.0	.	95	P31391	SSR4_HUMAN	I	95	ENSP00000255008:L95I	ENSP00000255008:L95I	L	+	1	0	SSTR4	22964403	1.000000	0.71417	0.702000	0.30337	0.770000	0.43624	4.149000	0.58091	1.811000	0.52892	0.561000	0.74099	CTC		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			8	104	1	0	0.00307968	1	0.00325696	8	104				
OR4D10	390197	broad.mit.edu	37	11	59245181	59245181	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59245181C>A	ENST00000530162.1	+	1	336	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGACCATCTCCTTCAATCATT	0.423																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(277-279)tcC>tcA		olfactory receptor, family 4, subfamily D, member 10							114.0	114.0	114.0					11																	59245181		2060	4211	6271	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245181C>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.279C>A	11.37:g.59245181C>A							p.S93S	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	336	+			93					B2RNH6	Silent	SNP	ENST00000530162.1	37	c.279C>A	CCDS53636.1																																																																																				0.423	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		44	82	1	0	2.13384e-23	1	2.82555e-23	44	82				
NEB	4703	broad.mit.edu	37	2	152506786	152506786	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506786C>A	ENST00000172853.10	-	54	7482	c.7335G>T	c.(7333-7335)aaG>aaT	p.K2445N	NEB_ENST00000409198.1_Missense_Mutation_p.K2445N|NEB_ENST00000604864.1_Missense_Mutation_p.K2445N|NEB_ENST00000603639.1_Missense_Mutation_p.K2445N|NEB_ENST00000427231.2_Missense_Mutation_p.K2445N|NEB_ENST00000397345.3_Missense_Mutation_p.K2445N			P20929	NEBU_HUMAN	nebulin	2445					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACGATATTTCTTCTCACTGA	0.448																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(7333-7335)aaG>aaT		nebulin							158.0	148.0	151.0					2																	152506786		1903	4123	6026	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152506786C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7335G>T	2.37:g.152506786C>A	ENSP00000172853:p.Lys2445Asn					NEB_ENST00000409198.1_Missense_Mutation_p.K2445N|NEB_ENST00000397345.3_Missense_Mutation_p.K2445N|NEB_ENST00000603639.1_Missense_Mutation_p.K2445N|NEB_ENST00000604864.1_Missense_Mutation_p.K2445N|NEB_ENST00000172853.10_Missense_Mutation_p.K2445N	p.K2445N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	54	7537	-			2445					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7335G>T		.	.	.	.	.	.	.	.	.	.	C	14.02	2.409363	0.42715	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.07688	3.25;3.23;3.23;3.17	5.37	4.49	0.54785	.	0.178912	0.49305	D	0.000150	T	0.19208	0.0461	L	0.56769	1.78	0.80722	D	1	D	0.55605	0.972	P	0.57911	0.829	T	0.00829	-1.1549	10	0.27082	T	0.32	.	13.235	0.59965	0.0:0.861:0.0:0.139	.	2445	P20929	NEBU_HUMAN	N	2445	ENSP00000386259:K2445N;ENSP00000380505:K2445N;ENSP00000416578:K2445N;ENSP00000172853:K2445N	ENSP00000172853:K2445N	K	-	3	2	NEB	152215032	0.980000	0.34600	1.000000	0.80357	0.974000	0.67602	0.248000	0.18198	0.663000	0.31027	-0.813000	0.03139	AAG		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	73	1	0	1.12685e-05	1	1.27857e-05	8	73				
SLC26A8	116369	broad.mit.edu	37	6	35943152	35943152	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35943152C>A	ENST00000490799.1	-	10	1640	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	SLC26A8_ENST00000394602.2_Splice_Site_p.Q324H|SLC26A8_ENST00000355574.2_Splice_Site_p.Q429H	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCAACATACCTGTTGTCTTC	0.338																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.e10+1		solute carrier family 26 (anion exchanger), member 8							92.0	85.0	88.0					6																	35943152		2203	4300	6503	SO:0001630	splice_region_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35943152C>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1287+1G>T	6.37:g.35943152C>A						SLC26A8_ENST00000355574.2_Splice_Site_p.Q429_splice|SLC26A8_ENST00000394602.2_Splice_Site_p.Q324_splice	p.Q429_splice	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			10	1640	-			429						Splice_Site	SNP	ENST00000490799.1	37	c.1287_splice	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337938	0.81911	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.93604	-3.25;-3.25;-3.25	5.52	5.52	0.82312	Sulphate transporter (1);	0.000000	0.64402	D	0.000004	D	0.96337	0.8805	M	0.89353	3.025	0.41696	D	0.98937	D;B	0.65815	0.995;0.312	P;B	0.62298	0.9;0.159	D	0.96575	0.9426	9	.	.	.	.	15.0205	0.71627	0.0:1.0:0.0:0.0	.	429;324	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	H	429;324;429	ENSP00000417638:Q429H;ENSP00000378100:Q324H;ENSP00000347778:Q429H	.	Q	-	3	2	SLC26A8	36051130	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.101000	0.57769	2.605000	0.88082	0.650000	0.86243	CAG		0.338	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		Missense_Mutation	6	15	1	0	0.00198382	1	0.00210581	6	15				
DPYSL4	10570	broad.mit.edu	37	10	134015524	134015524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015524C>A	ENST00000338492.4	+	11	1349	c.1185C>A	c.(1183-1185)taC>taA	p.Y395*	DPYSL4_ENST00000368627.1_Nonsense_Mutation_p.Y295*|DPYSL4_ENST00000368629.1_Nonsense_Mutation_p.Y295*	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	395					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCAATTTTTACCCAAGGAAGG	0.532																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1183-1185)taC>taA		dihydropyrimidinase-like 4							102.0	104.0	103.0					10																	134015524		2203	4300	6503	SO:0001587	stop_gained	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134015524C>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1185C>A	10.37:g.134015524C>A	ENSP00000339850:p.Tyr395*					DPYSL4_ENST00000368627.1_Nonsense_Mutation_p.Y295*|DPYSL4_ENST00000368629.1_Nonsense_Mutation_p.Y295*	p.Y395*	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	11	1349	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	395					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Nonsense_Mutation	SNP	ENST00000338492.4	37	c.1185C>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841623	0.91197	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	.	.	.	4.48	2.52	0.30459	.	0.135960	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.8803	5.3749	0.16160	0.0:0.6106:0.1702:0.2192	.	.	.	.	X	395;295;295	.	ENSP00000339850:Y395X	Y	+	3	2	DPYSL4	133865514	0.995000	0.38212	0.992000	0.48379	0.933000	0.57130	0.361000	0.20267	2.317000	0.78254	0.650000	0.86243	TAC		0.532	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			5	67	1	0	0.0381472	1	0.0390147	5	67				
CERKL	375298	broad.mit.edu	37	2	182412565	182412565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182412565C>T	ENST00000339098.5	-	10	1220	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	CERKL_ENST00000374970.2_Silent_p.Q312Q|CERKL_ENST00000374969.2_Silent_p.Q268Q|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.Q363Q|CERKL_ENST00000410087.3_Silent_p.Q381Q			Q49MI3	CERKL_HUMAN	ceramide kinase-like	407					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGAGATCCCTGTGCCCTCC	0.393																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(1141-1143)caG>caA		ceramide kinase-like							126.0	135.0	132.0					2																	182412565		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182412565C>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1221G>A	2.37:g.182412565C>T						CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Silent_p.Q407Q|CERKL_ENST00000409440.3_Silent_p.Q363Q|CERKL_ENST00000374970.2_Silent_p.Q312Q|CERKL_ENST00000374969.2_Silent_p.Q268Q	p.Q381Q	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		9	1243	-			407					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	c.1143G>A	CCDS42789.1																																																																																				0.393	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			75	121	0	0	0	1	0	75	121				
PRC1	9055	broad.mit.edu	37	15	91524802	91524802	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91524802A>G	ENST00000361188.5	-	5	1810	c.599T>C	c.(598-600)gTg>gCg	p.V200A	PRC1_ENST00000442656.2_Missense_Mutation_p.V159A|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000394249.3_Missense_Mutation_p.V200A|PRC1_ENST00000361919.3_Missense_Mutation_p.V200A					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTCACACACCACATCTCTTTC	0.428																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(598-600)gTg>gCg		protein regulator of cytokinesis 1							157.0	137.0	144.0					15																	91524802		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91524802A>G	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.599T>C	15.37:g.91524802A>G	ENSP00000354679:p.Val200Ala					PRC1_ENST00000394249.3_Missense_Mutation_p.V200A|PRC1_ENST00000442656.2_Missense_Mutation_p.V159A|PRC1_ENST00000361919.3_Missense_Mutation_p.V200A|PRC1-AS1_ENST00000554388.1_RNA	p.V200A			O43663	PRC1_HUMAN			5	1810	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		200			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.599T>C	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393809	0.62066	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	L	0.39898	1.24	0.80722	D	1	D;B;B;B;B	0.58970	0.984;0.155;0.246;0.155;0.187	P;B;B;B;B	0.55222	0.771;0.202;0.202;0.275;0.305	T	0.22138	-1.0225	10	0.09338	T	0.73	.	15.0066	0.71516	1.0:0.0:0.0:0.0	.	148;159;200;200;200	B4E238;O43663-3;F8W9B5;O43663-2;O43663	.;.;.;.;PRC1_HUMAN	A	200;200;200;159	ENSP00000377793:V200A;ENSP00000354618:V200A;ENSP00000354679:V200A;ENSP00000409549:V159A	ENSP00000354679:V200A	V	-	2	0	PRC1	89325806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.311000	0.89973	2.218000	0.71995	0.533000	0.62120	GTG		0.428	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		4	69	0	0	0	1	0	4	69				
PARP4	143	broad.mit.edu	37	13	25075813	25075813	+	Missense_Mutation	SNP	G	G	T	rs200245308		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25075813G>T	ENST00000381989.3	-	3	397	c.292C>A	c.(292-294)Ctg>Atg	p.L98M		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	98					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTGATGTCCAGGGGCTTATAA	0.418																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(292-294)Ctg>Atg		poly (ADP-ribose) polymerase family, member 4							152.0	155.0	154.0					13																	25075813		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25075813G>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.292C>A	13.37:g.25075813G>T	ENSP00000371419:p.Leu98Met						p.L98M	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	3	397	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	98					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.292C>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882593	0.33255	.	.	ENSG00000102699	ENST00000381989	T	0.01947	4.54	5.03	0.582	0.17412	BRCT (1);	2.518120	0.01650	N	0.024526	T	0.02929	0.0087	L	0.38531	1.155	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.37009	-0.9724	10	0.46703	T	0.11	0.7794	4.6255	0.12476	0.2174:0.3266:0.456:0.0	.	98	Q9UKK3	PARP4_HUMAN	M	98	ENSP00000371419:L98M	ENSP00000371419:L98M	L	-	1	2	PARP4	23973813	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.015000	0.13355	0.199000	0.20427	0.655000	0.94253	CTG		0.418	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		8	115	1	0	2.52707e-12	1	3.17576e-12	8	115				
PPP1R12A	4659	broad.mit.edu	37	12	80199984	80199984	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80199984C>A	ENST00000450142.2	-	13	2051	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.K508N|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K595N|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K595N|PPP1R12A_ENST00000550107.1_Intron|AC073569.1_ENST00000598624.1_Intron	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	595	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCGTTGTAATCTTTGTAGTAG	0.453																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(1783-1785)aaG>aaT		protein phosphatase 1, regulatory subunit 12A							304.0	287.0	292.0					12																	80199984		1939	4157	6096	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80199984C>A	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1785G>T	12.37:g.80199984C>A	ENSP00000389168:p.Lys595Asn					AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K595N|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K595N|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.K508N	p.K595N	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN			13	2051	-			595			Ser/Thr-rich.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.1785G>T	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.968546|2.968546	0.53614|0.53614	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000547330|ENST00000553081	T;T;T;T;T|.	0.38401|.	1.25;1.25;1.27;1.28;1.14|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.298726|.	0.38164|.	N|.	0.001799|.	T|T	0.50103|0.50103	0.1596|0.1596	L|L	0.34521|0.34521	1.04|1.04	0.34893|0.34893	D|D	0.745701|0.745701	P;P;B|.	0.40476|.	0.718;0.718;0.421|.	B;B;B|.	0.39258|.	0.217;0.295;0.154|.	T|T	0.58064|0.58064	-0.7702|-0.7702	10|5	0.18276|.	T|.	0.48|.	.|.	12.923|12.923	0.58243|0.58243	0.0:0.9258:0.0:0.0742|0.0:0.9258:0.0:0.0742	.|.	595;595;595|.	F8W8Q6;O14974-2;O14974|.	.;.;MYPT1_HUMAN|.	N|I	595;595;595;595;595;595;508;595|187	ENSP00000261207:K595N;ENSP00000389168:K595N;ENSP00000416769:K595N;ENSP00000449514:K508N;ENSP00000446816:K595N|.	ENSP00000261207:K595N|.	K|R	-|-	3|2	2|0	PPP1R12A|PPP1R12A	78724115|78724115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.959000|2.959000	0.49153|0.49153	2.641000|2.641000	0.89580|0.89580	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.453	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		26	243	1	0	3.01185e-09	1	3.6461e-09	26	243				
USP6	9098	broad.mit.edu	37	17	5048783	5048783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5048783G>T	ENST00000574788.1	+	27	4306	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	USP6_ENST00000332776.4_Missense_Mutation_p.K692N|USP6_ENST00000250066.6_Missense_Mutation_p.K692N|USP6_ENST00000304328.5_Missense_Mutation_p.K375N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	692	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAAATGCAAGACATGTGGGC	0.388			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(2074-2076)aaG>aaT		ubiquitin specific peptidase 6 (Tre-2 oncogene)							134.0	119.0	124.0					17																	5048783		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048783G>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2076G>T	17.37:g.5048783G>T	ENSP00000460380:p.Lys692Asn					USP6_ENST00000250066.6_Missense_Mutation_p.K692N|USP6_ENST00000304328.5_Missense_Mutation_p.K375N|USP6_ENST00000332776.4_Missense_Mutation_p.K692N	p.K692N			P35125	UBP6_HUMAN			27	4306	+			692					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2076G>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	7.149	0.583320	0.13749	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.30981	1.51;1.51;1.51	2.36	0.246	0.15516	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.28014	0.82	0.45648	D	0.998578	D;P	0.89917	1.0;0.558	D;B	0.83275	0.996;0.285	T	0.12016	-1.0564	10	0.46703	T	0.11	.	4.3808	0.11293	0.515:0.0:0.485:0.0	.	375;692	P35125-2;P35125	.;UBP6_HUMAN	N	692;692;375	ENSP00000328010:K692N;ENSP00000250066:K692N;ENSP00000305473:K375N	ENSP00000250066:K692N	K	+	3	2	USP6	4989507	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	1.313000	0.33585	0.320000	0.23234	0.194000	0.17425	AAG		0.388	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		32	53	1	0	2.46105e-21	1	3.23713e-21	32	53				
ERN1	2081	broad.mit.edu	37	17	62122804	62122804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62122804G>A	ENST00000433197.3	-	20	2663	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACGATCGGGCCATCCAGGG	0.562																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2566-2568)ggC>ggT		endoplasmic reticulum to nucleus signaling 1							92.0	96.0	95.0					17																	62122804		2077	4219	6296	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62122804G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2568C>T	17.37:g.62122804G>A							p.G856G	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			20	2663	-			856			KEN.			Silent	SNP	ENST00000433197.3	37	c.2568C>T	CCDS45762.1																																																																																				0.562	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		9	31	0	0	0	1	0	9	31				
GCC2	9648	broad.mit.edu	37	2	109098228	109098228	+	Missense_Mutation	SNP	C	C	T	rs199920630		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109098228C>T	ENST00000309863.6	+	10	3850	c.3136C>T	c.(3136-3138)Cgt>Tgt	p.R1046C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1046					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTTGAGCATCGTATTGAAGA	0.279													C|||	1	0.000199681	0.0	0.0	5008	,	,		14894	0.0		0.001	False		,,,				2504	0.0					ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3136-3138)Cgt>Tgt		GRIP and coiled-coil domain containing 2		C	CYS/ARG	0,4406		0,0,2203	47.0	52.0	50.0		3136	4.4	0.0	2		50	1,8595	1.2+/-3.3	0,1,4297	no	missense	GCC2	NM_181453.3	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1046/1685	109098228	1,13001	2203	4298	6501	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109098228C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3136C>T	2.37:g.109098228C>T	ENSP00000307939:p.Arg1046Cys						p.R1046C	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			10	3850	+			1046					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3136C>T	CCDS33268.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.628	1.135558	0.21123	0.0	1.16E-4	ENSG00000135968	ENST00000309863	T	0.33216	1.42	5.27	4.38	0.52667	.	0.431863	0.23258	N	0.050168	T	0.15392	0.0371	N	0.08118	0	0.09310	N	0.999999	P	0.39116	0.66	B	0.32805	0.153	T	0.09314	-1.0680	10	0.62326	D	0.03	.	12.2362	0.54516	0.0:0.9208:0.0:0.0792	.	1046	Q8IWJ2	GCC2_HUMAN	C	1046	ENSP00000307939:R1046C	ENSP00000307939:R1046C	R	+	1	0	GCC2	108464660	0.506000	0.26139	0.006000	0.13384	0.029000	0.11900	3.348000	0.52209	1.338000	0.45544	0.555000	0.69702	CGT		0.279	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		16	29	0	0	0	1	0	16	29				
ARHGAP22	58504	broad.mit.edu	37	10	49662148	49662148	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49662148C>T	ENST00000249601.4	-	7	1145	c.849G>A	c.(847-849)ctG>ctA	p.L283L	ARHGAP22_ENST00000477708.2_5'Flank|ARHGAP22_ENST00000374172.1_Silent_p.L174L|ARHGAP22_ENST00000417247.2_Silent_p.L193L|ARHGAP22_ENST00000435790.2_Silent_p.L289L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000417912.2_Silent_p.L299L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	283	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTATCTGAGCAGGTTGTAAT	0.527																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(847-849)ctG>ctA		Rho GTPase activating protein 22							167.0	148.0	155.0					10																	49662148		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49662148C>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.849G>A	10.37:g.49662148C>T						ARHGAP22_ENST00000374172.1_Silent_p.L174L|ARHGAP22_ENST00000417247.2_Silent_p.L193L|ARHGAP22_ENST00000435790.2_Silent_p.L289L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000417912.2_Silent_p.L299L	p.L283L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			7	1145	-			283			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.849G>A	CCDS7227.1																																																																																				0.527	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		6	63	0	0	0	1	0	6	63				
HIPK2	28996	broad.mit.edu	37	7	139288934	139288934	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139288934A>G	ENST00000406875.3	-	10	2242	c.2148T>C	c.(2146-2148)ctT>ctC	p.L716L	HIPK2_ENST00000428878.2_Silent_p.L689L|HIPK2_ENST00000342645.6_Silent_p.L716L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	716	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGCTGGGGGAAGCAGGATCT	0.562																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2146-2148)ctT>ctC		homeodomain interacting protein kinase 2							122.0	127.0	126.0					7																	139288934		2123	4230	6353	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139288934A>G	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2148T>C	7.37:g.139288934A>G						HIPK2_ENST00000428878.2_Silent_p.L689L|HIPK2_ENST00000342645.6_Silent_p.L716L	p.L716L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			10	2242	-	Melanoma(164;0.205)		716			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2148T>C																																																																																					0.562	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		11	180	0	0	0	1	0	11	180				
CCDC88A	55704	broad.mit.edu	37	2	55571571	55571571	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55571571G>A	ENST00000436346.1	-	11	1962	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	CCDC88A_ENST00000263630.8_Missense_Mutation_p.S374F|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S374F|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S374F|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	374					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTTATCAGAACGAGCACG	0.318																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1120-1122)tCt>tTt		coiled-coil domain containing 88A							133.0	131.0	131.0					2																	55571571		2203	4299	6502	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55571571G>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1121C>T	2.37:g.55571571G>A	ENSP00000410608:p.Ser374Phe					CCDC88A_ENST00000336838.6_Missense_Mutation_p.S374F|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S374F|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S374F	p.S374F	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			11	1962	-			374					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.1121C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.370447	0.82573	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.78	5.78	0.91487	.	0.000000	0.47455	U	0.000228	T	0.43100	0.1232	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.932;0.999;0.992	T	0.24693	-1.0153	10	0.10111	T	0.7	-8.3677	20.0026	0.97425	0.0:0.0:1.0:0.0	.	374;374;374	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	F	374	ENSP00000338728:S374F;ENSP00000263630:S374F;ENSP00000410608:S374F;ENSP00000404431:S374F	ENSP00000263630:S374F	S	-	2	0	CCDC88A	55425075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.722000	0.93159	0.650000	0.86243	TCT		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		14	33	0	0	0	1	0	14	33				
FLNB	2317	broad.mit.edu	37	3	58132695	58132695	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58132695C>T	ENST00000295956.4	+	34	5868	c.5703C>T	c.(5701-5703)ggC>ggT	p.G1901G	FLNB_ENST00000490882.1_Silent_p.G1932G|FLNB_ENST00000429972.2_Silent_p.G1890G|FLNB_ENST00000358537.3_Silent_p.G1877G|FLNB_ENST00000357272.4_Silent_p.G1901G|FLNB_ENST00000348383.5_Silent_p.G1901G|FLNB_ENST00000493452.1_Silent_p.G1708G|FLNB_ENST00000419752.2_Silent_p.G1721G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1901	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACATCCCTGGCAGCCCCTTCA	0.542																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(5701-5703)ggC>ggT		filamin B, beta							114.0	97.0	103.0					3																	58132695		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58132695C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5703C>T	3.37:g.58132695C>T						FLNB_ENST00000429972.2_Silent_p.G1890G|FLNB_ENST00000358537.3_Silent_p.G1877G|FLNB_ENST00000490882.1_Silent_p.G1932G|FLNB_ENST00000419752.2_Silent_p.G1721G|FLNB_ENST00000348383.5_Silent_p.G1901G|FLNB_ENST00000295956.4_Silent_p.G1901G|FLNB_ENST00000493452.1_Silent_p.G1708G	p.G1901G			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	34	5868	+			1901			Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.5703C>T	CCDS2885.1																																																																																				0.542	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	33	0	0	0	1	0	5	33				
PRPF8	10594	broad.mit.edu	37	17	1584919	1584919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1584919C>T	ENST00000572621.1	-	5	984	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R240H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	240					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTAGCCAGGCGGTAGAGAGT	0.468																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(718-720)cGc>cAc		pre-mRNA processing factor 8							151.0	147.0	149.0					17																	1584919		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1584919C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.719G>A	17.37:g.1584919C>T	ENSP00000460348:p.Arg240His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R240H	p.R240H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	5	984	-			240					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.719G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483220	0.96307	.	.	ENSG00000174231	ENST00000304992	D	0.84370	-1.84	5.84	5.84	0.93424	.	0.049259	0.85682	D	0.000000	D	0.94453	0.8215	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94863	0.8023	10	0.87932	D	0	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	240	Q6P2Q9	PRP8_HUMAN	H	240	ENSP00000304350:R240H	ENSP00000304350:R240H	R	-	2	0	PRPF8	1531669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.763000	0.94921	0.650000	0.86243	CGC		0.468	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			46	93	0	0	0	1	0	46	93				
ULK2	9706	broad.mit.edu	37	17	19679690	19679690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19679690G>A	ENST00000395544.4	-	27	3582	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	ULK2_ENST00000361658.2_Missense_Mutation_p.A1028V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	1028	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATGGCAGAGCGCCGACAGTCT	0.428																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(3082-3084)gCg>gTg		unc-51 like autophagy activating kinase 2							36.0	32.0	33.0					17																	19679690		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19679690G>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.3083C>T	17.37:g.19679690G>A	ENSP00000378914:p.Ala1028Val					ULK2_ENST00000361658.2_Missense_Mutation_p.A1028V	p.A1028V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			27	3582	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		1028					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.3083C>T	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147943	0.37923	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.42900	0.96;0.96	5.82	4.85	0.62838	Serine/threonine-protein kinase, C-terminal (1);	0.196953	0.53938	N	0.000049	T	0.37293	0.0998	L	0.47716	1.5	0.36309	D	0.857502	P	0.44521	0.837	B	0.42361	0.385	T	0.38950	-0.9637	10	0.14656	T	0.56	-4.0673	13.7481	0.62887	0.073:0.0:0.927:0.0	.	1028	Q8IYT8	ULK2_HUMAN	V	1028	ENSP00000354877:A1028V;ENSP00000378914:A1028V	ENSP00000354877:A1028V	A	-	2	0	ULK2	19620282	0.997000	0.39634	0.928000	0.36995	0.797000	0.45037	5.033000	0.64146	1.474000	0.48178	0.555000	0.69702	GCG		0.428	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		4	3	0	0	0	1	0	4	3				
HEATR5B	54497	broad.mit.edu	37	2	37285656	37285656	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37285656G>T	ENST00000233099.5	-	14	2092	c.1997C>A	c.(1996-1998)gCt>gAt	p.A666D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A666D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	666						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACCATTGCAGCACTAGCTTT	0.323																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1996-1998)gCt>gAt		HEAT repeat containing 5B							71.0	71.0	71.0					2																	37285656		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37285656G>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1997C>A	2.37:g.37285656G>T	ENSP00000233099:p.Ala666Asp					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A666D	p.A666D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			14	2092	-		all_hematologic(82;0.21)	666					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.1997C>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074493	0.94000	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.61627	0.09;0.09	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.70595	2.14	0.80722	D	1	D	0.57899	0.981	P	0.57548	0.823	T	0.67585	-0.5633	10	0.23891	T	0.37	-19.7886	18.6922	0.91588	0.0:0.0:1.0:0.0	.	666	Q9P2D3	HTR5B_HUMAN	D	666	ENSP00000233099:A666D;ENSP00000346531:A666D	ENSP00000233099:A666D	A	-	2	0	HEATR5B	37139160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.572000	0.98179	2.419000	0.82065	0.585000	0.79938	GCT		0.323	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		4	60	1	0	0.150653	1	0.152692	4	60				
PLA2G16	11145	broad.mit.edu	37	11	63357748	63357748	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63357748T>C	ENST00000323646.5	-	3	565	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	PLA2G16_ENST00000415826.1_Missense_Mutation_p.S71G|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	71					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACTTGTCACTCCCGGCCACA	0.572																																						ENST00000323646.5																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(211-213)Agt>Ggt		phospholipase A2, group XVI							194.0	138.0	157.0					11																	63357748		2201	4298	6499	SO:0001583	missense	11145				lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding	g.chr11:63357748T>C	X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.211A>G	11.37:g.63357748T>C	ENSP00000320337:p.Ser71Gly					PLA2G16_ENST00000415826.1_Missense_Mutation_p.S71G|PLA2G16_ENST00000394613.3_5'UTR	p.S71G	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN			3	565	-			71					B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	ENST00000323646.5	37	c.211A>G	CCDS8047.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883373	0.17467	.	.	ENSG00000176485	ENST00000323646;ENST00000415826;ENST00000540943	T;T	0.18016	2.24;2.24	5.58	0.342	0.15996	NC (1);	0.609802	0.17343	N	0.177697	T	0.03783	0.0107	N	0.01197	-0.965	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.0	T	0.42783	-0.9431	10	0.02654	T	1	-2.6357	5.7227	0.17996	0.0:0.149:0.2631:0.5879	.	102;71	Q3MI98;P53816	.;PAG16_HUMAN	G	71;71;21	ENSP00000320337:S71G;ENSP00000389124:S71G	ENSP00000320337:S71G	S	-	1	0	PLA2G16	63114324	0.000000	0.05858	0.071000	0.20095	0.876000	0.50452	-0.136000	0.10405	0.048000	0.15891	-0.421000	0.06004	AGT		0.572	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203		3	60	0	0	0	1	0	3	60				
ZBTB43	23099	broad.mit.edu	37	9	129596169	129596169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129596169C>T	ENST00000373464.4	+	3	1645	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	ZBTB43_ENST00000449886.1_Nonsense_Mutation_p.Q461*|ZBTB43_ENST00000373457.1_Nonsense_Mutation_p.Q461*	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTGAGCAGAATACAAC	0.428																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1381-1383)Cag>Tag		zinc finger and BTB domain containing 43							89.0	95.0	93.0					9																	129596169		2201	4284	6485	SO:0001587	stop_gained	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129596169C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1381C>T	9.37:g.129596169C>T	ENSP00000362563:p.Gln461*					ZBTB43_ENST00000373457.1_Nonsense_Mutation_p.Q461*|ZBTB43_ENST00000449886.1_Nonsense_Mutation_p.Q461*	p.Q461*	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1645	+			461					Q5JU96	Nonsense_Mutation	SNP	ENST00000373464.4	37	c.1381C>T	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	C	47	13.005909	0.99712	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	.	.	.	5.83	5.83	0.93111	.	0.067096	0.64402	D	0.000011	.	.	.	.	.	.	0.44745	D	0.997749	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	20.1208	0.97960	0.0:1.0:0.0:0.0	.	.	.	.	X	461	.	ENSP00000362556:Q461X	Q	+	1	0	ZBTB43	128635990	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.249000	0.72427	2.758000	0.94735	0.655000	0.94253	CAG		0.428	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		52	90	0	0	0	1	0	52	90				
C1R	715	broad.mit.edu	37	12	7188195	7188195	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188195G>T	ENST00000542285.1	-	11	1752	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M				P00736	C1R_HUMAN	complement component 1, r subcomponent	587	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAAGCCCAGGTCGTAGAAG	0.567																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1603-1605)Ctg>Atg		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						57.0	58.0	58.0					12																	7188195		2094	4232	6326	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188195G>T	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1603C>A	12.37:g.7188195G>T	ENSP00000438615:p.Leu535Met						p.L535M			P00736	C1R_HUMAN			11	1752	-			587			Peptidase S1.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1603C>A		.	.	.	.	.	.	.	.	.	.	G	7.130	0.579605	0.13686	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88818	-2.43	5.64	-11.3	0.00108	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.823500	0.00916	N	0.002535	T	0.79393	0.4438	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.64833	-0.6314	9	0.52906	T	0.07	.	7.5406	0.27735	0.1411:0.1256:0.5743:0.1591	.	587	P00736	C1R_HUMAN	M	550;535	ENSP00000438615:L535M	ENSP00000290575:L550M	L	-	1	2	C1R	7058450	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-2.246000	0.01191	-2.183000	0.00763	-1.047000	0.02352	CTG		0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		9	17	1	0	7.48243e-07	1	8.70085e-07	9	17				
USP6NL	9712	broad.mit.edu	37	10	11535183	11535183	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11535183T>C	ENST00000609104.1	-	8	823	c.429A>G	c.(427-429)caA>caG	p.Q143Q	USP6NL_ENST00000277575.5_Silent_p.Q160Q|USP6NL_ENST00000379237.2_Silent_p.Q166Q	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	143	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCAGGTCTATTTGTCTGATGT	0.368																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(427-429)caA>caG		USP6 N-terminal like							93.0	82.0	85.0					10																	11535183		1859	4088	5947	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11535183T>C	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.429A>G	10.37:g.11535183T>C						USP6NL_ENST00000277575.5_Silent_p.Q160Q	p.Q143Q	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			8	823	-			143			Rab-GAP TBC.		A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.429A>G	CCDS53492.1																																																																																				0.368	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		8	11	0	0	0	1	0	8	11				
SPRY4	81848	broad.mit.edu	37	5	141694443	141694443	+	Silent	SNP	C	C	T	rs143709567	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694443C>T	ENST00000434127.2	-	2	474	c.231G>A	c.(229-231)acG>acA	p.T77T	SPRY4_ENST00000344120.4_Silent_p.T100T|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	77			T -> M (in HH17; phenotype consistent with Kallmann syndrome). {ECO:0000269|PubMed:23643382}.		multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGCGGGCGTCGGGGCCA	0.662									Testicular Cancer, Familial Clustering of				C|||	6	0.00119808	0.0008	0.0	5008	,	,		11751	0.0		0.0	False		,,,				2504	0.0051					ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(298-300)acG>acA		sprouty homolog 4 (Drosophila)		C	,	3,4399		0,3,2198	25.0	32.0	30.0		231,300	-9.3	0.0	5	dbSNP_134	30	10,8584		0,10,4287	no	coding-synonymous,coding-synonymous	SPRY4	NM_001127496.1,NM_030964.3	,	0,13,6485	TT,TC,CC		0.1164,0.0682,0.1	,	77/300,100/323	141694443	13,12983	2201	4297	6498	SO:0001819	synonymous_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694443C>T	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.231G>A	5.37:g.141694443C>T						SPRY4_ENST00000434127.2_Silent_p.T77T	p.T100T	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	486	-		all_hematologic(541;0.118)	77			Poly-Ser.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.300G>A	CCDS47296.1																																																																																				0.662	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			23	32	0	0	0	1	0	23	32				
DCAF13	25879	broad.mit.edu	37	8	104453788	104453788	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104453788A>C	ENST00000297579.5	+	10	1925	c.1648A>C	c.(1648-1650)Aaa>Caa	p.K550Q		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	398					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCTACCAAAATCTATCTA	0.383																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1648-1650)Aaa>Caa		DDB1 and CUL4 associated factor 13							135.0	129.0	131.0					8																	104453788		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104453788A>C	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1648A>C	8.37:g.104453788A>C	ENSP00000297579:p.Lys550Gln						p.K550Q	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			10	1925	+			398					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1648A>C	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485251	0.84854	.	.	ENSG00000164934	ENST00000297579	T	0.75938	-0.98	5.42	5.42	0.78866	.	0.054588	0.64402	D	0.000001	D	0.83459	0.5259	M	0.77820	2.39	0.80722	D	1	.	.	.	.	.	.	D	0.85246	0.1041	8	0.59425	D	0.04	-20.9508	14.0319	0.64619	1.0:0.0:0.0:0.0	.	.	.	.	Q	550	ENSP00000297579:K550Q	ENSP00000297579:K550Q	K	+	1	0	DCAF13	104522964	1.000000	0.71417	0.919000	0.36401	0.981000	0.71138	8.864000	0.92294	2.039000	0.60335	0.460000	0.39030	AAA		0.383	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		10	126	0	0	0	1	0	10	126				
SLC25A2	83884	broad.mit.edu	37	5	140682820	140682820	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140682820C>A	ENST00000239451.4	-	1	792	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	205					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCTAGTTCATCTTTTGATCTC	0.438																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(613-615)Gat>Tat		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						110.0	110.0	110.0					5																	140682820		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682820C>A	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.613G>T	5.37:g.140682820C>A	ENSP00000239451:p.Asp205Tyr						p.D205Y	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	792	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	205					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.613G>T	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217928	0.58560	.	.	ENSG00000120329	ENST00000239451	T	0.78364	-1.17	3.78	2.91	0.33838	Mitochondrial carrier domain (2);	0.180133	0.47852	D	0.000202	D	0.87358	0.6157	M	0.88775	2.98	0.53688	D	0.999978	D	0.67145	0.996	D	0.67382	0.951	D	0.88215	0.2893	10	0.87932	D	0	-13.3174	9.7733	0.40603	0.0:0.895:0.0:0.105	.	205	Q9BXI2	ORNT2_HUMAN	Y	205	ENSP00000239451:D205Y	ENSP00000239451:D205Y	D	-	1	0	SLC25A2	140663004	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.212000	0.42835	1.187000	0.43000	0.650000	0.86243	GAT		0.438	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		6	68	1	0	0.00116845	1	0.00124821	6	68				
GABRB2	2561	broad.mit.edu	37	5	160763653	160763653	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160763653A>G	ENST00000393959.1	-	6	664	c.665T>C	c.(664-666)gTt>gCt	p.V222A	GABRB2_ENST00000274547.2_Missense_Mutation_p.V222A|GABRB2_ENST00000353437.6_Missense_Mutation_p.V222A|GABRB2_ENST00000517547.1_Missense_Mutation_p.V62A|GABRB2_ENST00000517901.1_Missense_Mutation_p.V159A|GABRB2_ENST00000520240.1_Missense_Mutation_p.V222A			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	222					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAAAAAACAACCTTCTTGGT	0.358																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(664-666)gTt>gCt		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						92.0	93.0	93.0					5																	160763653		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160763653A>G		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.665T>C	5.37:g.160763653A>G	ENSP00000377531:p.Val222Ala					GABRB2_ENST00000353437.6_Missense_Mutation_p.V222A|GABRB2_ENST00000520240.1_Missense_Mutation_p.V222A|GABRB2_ENST00000517901.1_Missense_Mutation_p.V159A|GABRB2_ENST00000517547.1_Missense_Mutation_p.V62A|GABRB2_ENST00000393959.1_Missense_Mutation_p.V222A	p.V222A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	882	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	222					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.665T>C	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.170395	0.78452	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.47	5.47	0.80525	Neurotransmitter-gated ion-channel ligand-binding (3);	0.188416	0.45361	D	0.000365	T	0.80303	0.4598	N	0.26092	0.79	0.80722	D	1	D;B;B;B	0.69078	0.997;0.004;0.379;0.037	D;B;B;B	0.79108	0.992;0.098;0.349;0.085	T	0.77294	-0.2641	10	0.21540	T	0.41	.	15.5683	0.76313	1.0:0.0:0.0:0.0	.	62;159;222;222	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	A	222;222;222;222;159;62	ENSP00000377531:V222A;ENSP00000274547:V222A;ENSP00000274546:V222A;ENSP00000429320:V222A;ENSP00000430532:V159A;ENSP00000429750:V62A	ENSP00000274547:V222A	V	-	2	0	GABRB2	160696231	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.122000	0.94380	2.072000	0.62099	0.533000	0.62120	GTT		0.358	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			33	41	0	0	0	1	0	33	41				
PKMYT1	9088	broad.mit.edu	37	16	3024032	3024032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3024032G>A	ENST00000262300.8	-	7	1787	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	PKMYT1_ENST00000574730.1_Missense_Mutation_p.L358F|PKMYT1_ENST00000440027.2_Missense_Mutation_p.L427F|PKMYT1_ENST00000431515.2_Missense_Mutation_p.L427F|PKMYT1_ENST00000573944.1_Missense_Mutation_p.L418F|PKMYT1_ENST00000574385.1_Missense_Mutation_p.L418F	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	427	Interaction with PIN1.			L -> F (in Ref. 1; AAB71843). {ECO:0000305}.	G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TTGCTGGAGAGGCTGCTGTCC	0.662																																						ENST00000431515.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1279-1281)Ctc>Ttc		protein kinase, membrane associated tyrosine/threonine 1							29.0	29.0	29.0					16																	3024032		2196	4298	6494	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3024032G>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1279C>T	16.37:g.3024032G>A	ENSP00000262300:p.Leu427Phe					PKMYT1_ENST00000574730.1_Missense_Mutation_p.L358F|PKMYT1_ENST00000573944.1_Missense_Mutation_p.L418F|PKMYT1_ENST00000262300.8_Missense_Mutation_p.L427F|PKMYT1_ENST00000574385.1_Missense_Mutation_p.L418F|PKMYT1_ENST00000440027.2_Missense_Mutation_p.L427F	p.L427F			Q99640	PMYT1_HUMAN			7	1664	-			427	L -> F (in Ref. 1; AAB71843).		Interaction with PIN1.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.1279C>T	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195376	0.22037	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.59502	1.8;0.26;0.27;0.29	5.52	3.44	0.39384	.	0.641780	0.14910	N	0.291319	T	0.32882	0.0844	N	0.14661	0.345	0.28376	N	0.919797	B;B;B;B	0.10296	0.0;0.0;0.0;0.003	B;B;B;B	0.09377	0.001;0.001;0.001;0.004	T	0.14727	-1.0462	10	0.17369	T	0.5	-20.1477	4.0895	0.09963	0.1952:0.0:0.5763:0.2285	.	418;358;427;427	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	F	427;427;427;427;418	ENSP00000392855:L427F;ENSP00000262300:L427F;ENSP00000397739:L427F;ENSP00000371675:L418F	ENSP00000262300:L427F	L	-	1	0	PKMYT1	2964033	0.995000	0.38212	1.000000	0.80357	0.682000	0.39822	0.051000	0.14141	1.331000	0.45412	0.655000	0.94253	CTC		0.662	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		12	11	0	0	0	1	0	12	11				
TG	7038	broad.mit.edu	37	8	133961178	133961178	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133961178G>T	ENST00000220616.4	+	27	5431	c.5391G>T	c.(5389-5391)gaG>gaT	p.E1797D	TG_ENST00000377869.1_Missense_Mutation_p.E1740D|TG_ENST00000542445.1_Missense_Mutation_p.E167D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1797					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACCAGGAGTTCATCAAGA	0.478																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5389-5391)gaG>gaT		thyroglobulin							216.0	189.0	198.0					8																	133961178		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133961178G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5391G>T	8.37:g.133961178G>T	ENSP00000220616:p.Glu1797Asp					TG_ENST00000542445.1_Missense_Mutation_p.E167D|TG_ENST00000377869.1_Missense_Mutation_p.E1740D	p.E1797D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	27	5431	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1797					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5391G>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.64|10.64	1.407257|1.407257	0.25378|0.25378	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.68331|.	-0.11;-0.11;-0.32|.	5.56|5.56	0.252|0.252	0.15545|0.15545	.|.	1.061000|.	0.07346|.	N|.	0.881542|.	T|T	0.41213|0.41213	0.1149|0.1149	M|M	0.63428|0.63428	1.95|1.95	0.23030|0.23030	N|N	0.998408|0.998408	P;P|.	0.50156|.	0.607;0.932|.	B;P|.	0.45167|.	0.223;0.472|.	T|T	0.35425|0.35425	-0.9789|-0.9789	10|5	0.52906|.	T|.	0.07|.	.|.	4.495|4.495	0.11833|0.11833	0.3248:0.0:0.5317:0.1435|0.3248:0.0:0.5317:0.1435	.|.	167;1797|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	D|F	1740;603;1797;167|253	ENSP00000367100:E1740D;ENSP00000220616:E1797D;ENSP00000441693:E167D|.	ENSP00000220616:E1797D|.	E|V	+|+	3|1	2|0	TG|TG	134030360|134030360	0.984000|0.984000	0.35163|0.35163	0.340000|0.340000	0.25575|0.25575	0.406000|0.406000	0.30931|0.30931	0.445000|0.445000	0.21677|0.21677	0.091000|0.091000	0.17302|0.17302	0.655000|0.655000	0.94253|0.94253	GAG|GTT		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		32	62	1	0	6.00712e-18	1	7.8162e-18	32	62				
GRIK5	2901	broad.mit.edu	37	19	42557982	42557982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42557982G>A	ENST00000262895.3	-	9	1155	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	GRIK5_ENST00000593562.1_Missense_Mutation_p.R386C|GRIK5_ENST00000301218.4_Missense_Mutation_p.R386C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	386					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CTCACCTCACGGTGGCCCTGC	0.647																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1156-1158)Cgt>Tgt		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						62.0	54.0	57.0					19																	42557982		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42557982G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1156C>T	19.37:g.42557982G>A	ENSP00000262895:p.Arg386Cys					GRIK5_ENST00000593562.1_Missense_Mutation_p.R386C|GRIK5_ENST00000301218.4_Missense_Mutation_p.R386C	p.R386C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			9	1155	-		Prostate(69;0.059)	386					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1156C>T	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266242	0.80358	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.25085	1.82;1.82	5.44	4.36	0.52297	.	0.064010	0.64402	D	0.000010	T	0.38427	0.1040	M	0.67569	2.06	0.53005	D	0.999968	D	0.64830	0.994	P	0.51266	0.664	T	0.35798	-0.9774	10	0.87932	D	0	.	14.471	0.67517	0.0:0.0:0.8523:0.1477	.	386	Q16478	GRIK5_HUMAN	C	386	ENSP00000262895:R386C;ENSP00000301218:R386C	ENSP00000262895:R386C	R	-	1	0	GRIK5	47249822	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.042000	0.49815	2.546000	0.85860	0.655000	0.94253	CGT		0.647	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			6	17	0	0	0	1	0	6	17				
MICA	100507436	broad.mit.edu	37	6	31379113	31379113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31379113C>T	ENST00000449934.2	+	3	644	c.590C>T	c.(589-591)tCc>tTc	p.S197F	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TATCTAGAATCCGGCGTAGTC	0.537																																						ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(589-591)tCc>tTc		MHC class I polypeptide-related sequence A							99.0	87.0	91.0					6																	31379113		692	1591	2283	SO:0001583	missense	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31379113C>T	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.590C>T	6.37:g.31379113C>T	ENSP00000413079:p.Ser197Phe					HCP5_ENST00000414046.2_RNA	p.S197F	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			3	644	+		Ovarian(999;0.0253)	197						Missense_Mutation	SNP	ENST00000449934.2	37	c.590C>T	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	6.159	0.397582	0.11638	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934	T	0.01599	4.74	1.41	0.51	0.16983	.	0.733633	0.11226	N	0.586158	T	0.01061	0.0035	M	0.77616	2.38	0.09310	N	1	B;B	0.27656	0.067;0.184	B;B	0.30401	0.03;0.115	T	0.42085	-0.9472	10	0.87932	D	0	.	3.6718	0.08277	0.0:0.7487:0.0:0.2513	.	59;197	Q5SS58;Q96QC4	.;.	F	59;197;154;197	ENSP00000413079:S197F	ENSP00000365394:S197F	S	+	2	0	MICA	31487092	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.369000	0.07533	0.192000	0.20272	0.306000	0.20318	TCC		0.537	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		4	2	0	0	0	1	0	4	2				
ZNF417	147687	broad.mit.edu	37	19	58420783	58420783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420783C>T	ENST00000312026.5	-	3	1027	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	ZNF417_ENST00000536263.1_Missense_Mutation_p.R89Q|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R287Q	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGGACTCGCTGATGTTG	0.458																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(862-864)cGa>cAa		zinc finger protein 417							166.0	163.0	164.0					19																	58420783		2203	4300	6503	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420783C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.863G>A	19.37:g.58420783C>T	ENSP00000311319:p.Arg288Gln					CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R287Q|ZNF417_ENST00000536263.1_Missense_Mutation_p.R89Q	p.R288Q	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1027	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	288					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.863G>A	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	10.79	1.449734	0.26074	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.02369	4.32;4.32	1.68	0.55	0.17219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	M	0.62209	1.925	0.09310	N	1	B;P	0.39131	0.088;0.661	B;B	0.20184	0.001;0.028	T	0.37776	-0.9691	9	0.72032	D	0.01	.	7.2397	0.26090	0.0:0.8441:0.0:0.1559	.	288;288	F5H0M9;Q8TAU3	.;ZN417_HUMAN	Q	288;89	ENSP00000311319:R288Q;ENSP00000442760:R89Q	ENSP00000311319:R288Q	R	-	2	0	ZNF417	63112595	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.314000	0.01125	0.058000	0.16222	-1.206000	0.01644	CGA		0.458	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		57	126	0	0	0	1	0	57	126				
CNDP1	84735	broad.mit.edu	37	18	72244143	72244143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72244143G>A	ENST00000358821.3	+	8	1109	c.881G>A	c.(880-882)gGa>gAa	p.G294E	CNDP1_ENST00000582365.1_Missense_Mutation_p.G251E	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	294						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.G294E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGTCCCTGGAATCTATGAT	0.453																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			1	Substitution - Missense(1)	p.G294E(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(751-753)gGa>gAa		carnosine dipeptidase 1 (metallopeptidase M20 family)							159.0	138.0	145.0					18																	72244143		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72244143G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.881G>A	18.37:g.72244143G>A	ENSP00000351682:p.Gly294Glu					CNDP1_ENST00000358821.3_Missense_Mutation_p.G294E	p.G251E			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	7	818	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	294					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.752G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798310	0.70567	.	.	ENSG00000150656	ENST00000358821	T	0.21031	2.03	5.15	4.28	0.50868	Peptidase M20, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75465	-0.3308	10	0.87932	D	0	-15.4566	13.4866	0.61369	0.0763:0.0:0.9237:0.0	.	294	Q96KN2	CNDP1_HUMAN	E	294	ENSP00000351682:G294E	ENSP00000351682:G294E	G	+	2	0	CNDP1	70395123	1.000000	0.71417	0.975000	0.42487	0.741000	0.42261	8.239000	0.89811	1.177000	0.42855	0.561000	0.74099	GGA		0.453	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		37	48	0	0	0	1	0	37	48				
HDAC3	8841	broad.mit.edu	37	5	141007475	141007475	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141007475C>A	ENST00000305264.3	-	10	894	c.815G>T	c.(814-816)aGc>aTc	p.S272I	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	272	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCCTCGGATGCTGAGGTTAAA	0.527																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(814-816)aGc>aTc		histone deacetylase 3	Vorinostat(DB02546)						126.0	115.0	119.0					5																	141007475		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141007475C>A	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.815G>T	5.37:g.141007475C>A	ENSP00000302967:p.Ser272Ile						p.S272I	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	894	-			272			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.815G>T	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939002	0.92526	.	.	ENSG00000171720	ENST00000305264;ENST00000523353;ENST00000523088	T;T;T	0.76709	-1.04;-1.04;1.28	5.37	5.37	0.77165	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	H	0.94385	3.53	0.80722	D	1	D	0.60575	0.988	D	0.63381	0.914	D	0.93042	0.6458	10	0.87932	D	0	-21.7806	18.9064	0.92464	0.0:1.0:0.0:0.0	.	272	O15379	HDAC3_HUMAN	I	272;81;197	ENSP00000302967:S272I;ENSP00000430667:S81I;ENSP00000429099:S197I	ENSP00000302967:S272I	S	-	2	0	HDAC3	140987659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	2.788000	0.95919	0.650000	0.86243	AGC		0.527	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		6	60	1	0	0.000157383	1	0.00017284	6	60				
TULP2	7288	broad.mit.edu	37	19	49385367	49385367	+	Missense_Mutation	SNP	C	C	T	rs564812584	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49385367C>T	ENST00000221399.3	-	12	1513	c.1369G>A	c.(1369-1371)Ggt>Agt	p.G457S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	457					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTGTAGACACCGTTCTCCTTG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		18948	0.0		0.0	False		,,,				2504	0.002					ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1369-1371)Ggt>Agt		tubby like protein 2							148.0	118.0	128.0					19																	49385367		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49385367C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1369G>A	19.37:g.49385367C>T	ENSP00000221399:p.Gly457Ser						p.G457S	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	12	1513	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	457					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1369G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180851	0.38511	.	.	ENSG00000104804	ENST00000221399;ENST00000522341	D;D	0.84873	-1.91;-1.91	4.62	2.5	0.30297	Tubby, C-terminal (4);	0.212171	0.42172	N	0.000756	T	0.81133	0.4759	M	0.70275	2.135	0.25888	N	0.983501	P	0.38167	0.621	B	0.39185	0.293	T	0.71286	-0.4638	10	0.38643	T	0.18	-14.6677	5.0651	0.14578	0.0:0.6427:0.1717:0.1856	.	457	O00295	TULP2_HUMAN	S	457;6	ENSP00000221399:G457S;ENSP00000429131:G6S	ENSP00000221399:G457S	G	-	1	0	TULP2	54077179	0.998000	0.40836	0.041000	0.18516	0.000000	0.00434	2.917000	0.48821	0.690000	0.31570	-0.781000	0.03364	GGT		0.512	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		35	49	0	0	0	1	0	35	49				
OR1D5	8386	broad.mit.edu	37	17	2966243	2966243	+	Missense_Mutation	SNP	C	C	T	rs202213420		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2966243C>T	ENST00000575751.1	-	1	658	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	220					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						TCTGACAATACGTACATAGGA	0.493													c|||	1	0.000199681	0.0008	0.0	5008	,	,		29941	0.0		0.0	False		,,,				2504	0.0					ENST00000575751.1																			0				kidney(1)|lung(10)	11						c.(658-660)cGt>cAt		olfactory receptor, family 1, subfamily D, member 5		C	HIS/ARG	4,4326		0,4,2161	74.0	83.0	80.0		659	-5.1	0.0	17		80	1,8551		0,1,4275	no	missense	OR1D5	NM_014566.1	29	0,5,6436	TT,TC,CC		0.0117,0.0924,0.0388	benign	220/313	2966243	5,12877	2165	4276	6441	SO:0001583	missense	8386				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:2966243C>T	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.659G>A	17.37:g.2966243C>T	ENSP00000459028:p.Arg220His						p.R220H	NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN			1	658	-			220					Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	37	c.659G>A	CCDS58499.1																																																																																				0.493	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		6	27	0	0	0	1	0	6	27				
PEX12	5193	broad.mit.edu	37	17	33904225	33904225	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33904225T>A	ENST00000225873.4	-	2	1119	c.512A>T	c.(511-513)gAa>gTa	p.E171V	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	171					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACCATCCTTCCCAGGCCAT	0.483																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(511-513)gAa>gTa		peroxisomal biogenesis factor 12							80.0	78.0	79.0					17																	33904225		2203	4299	6502	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904225T>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.512A>T	17.37:g.33904225T>A	ENSP00000225873:p.Glu171Val						p.E171V	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1119	-			171					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.512A>T	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289542	0.80914	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84070	-1.8	5.63	5.63	0.86233	Pex, N-terminal (1);	0.224693	0.48286	D	0.000192	D	0.88676	0.6501	M	0.75777	2.31	0.58432	D	0.999994	D	0.62365	0.991	P	0.59357	0.856	D	0.87265	0.2282	10	0.28530	T	0.3	-14.654	15.0234	0.71650	0.0:0.0:0.0:1.0	.	171	O00623	PEX12_HUMAN	V	171	ENSP00000225873:E171V	ENSP00000225873:E171V	E	-	2	0	PEX12	30928338	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.308000	0.65768	2.142000	0.66516	0.528000	0.53228	GAA		0.483	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		23	25	0	0	0	1	0	23	25				
RTP5	285093	broad.mit.edu	37	2	242815105	242815105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242815105G>A	ENST00000343216.3	+	2	1426	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_173821.2	NP_776182.2																					GCCCCATCACGGTTAGTGAGG	0.612																																						ENST00000343216.3																			0											c.(1396-1398)acG>acA		CXXC finger protein 11							59.0	67.0	65.0					2																	242815105		2047	4184	6231	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242815105G>A																												ENST00000343216.3:c.1398G>A	2.37:g.242815105G>A							p.T466T	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1426	+			466						Silent	SNP	ENST00000343216.3	37	c.1398G>A	CCDS42843.1																																																																																				0.612	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			25	35	0	0	0	1	0	25	35				
GNA14	9630	broad.mit.edu	37	9	80040524	80040524	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80040524C>A	ENST00000341700.6	-	6	1344	c.831G>T	c.(829-831)gaG>gaT	p.E277D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						ACATGATTTTCTCTTCCAAAA	0.403																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(829-831)gaG>gaT		guanine nucleotide binding protein (G protein), alpha 14							131.0	133.0	132.0					9																	80040524		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80040524C>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.831G>T	9.37:g.80040524C>A	ENSP00000365807:p.Glu277Asp					GNA14_ENST00000464095.1_5'UTR	p.E277D	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			6	1344	-			277					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.831G>T	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170240	0.57584	.	.	ENSG00000156049	ENST00000341700	D	0.90385	-2.66	5.79	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	M	0.73753	2.245	0.48185	D	0.9996	B	0.06786	0.001	B	0.17433	0.018	D	0.86282	0.1668	10	0.54805	T	0.06	.	10.3696	0.44046	0.0:0.851:0.0:0.149	.	277	O95837	GNA14_HUMAN	D	277	ENSP00000365807:E277D	ENSP00000365807:E277D	E	-	3	2	GNA14	79230344	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.802000	0.38853	1.449000	0.47699	0.650000	0.86243	GAG		0.403	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			35	39	1	0	1.22384e-17	1	1.58917e-17	35	39				
PPID	5481	broad.mit.edu	37	4	159642600	159642600	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159642600C>T	ENST00000307720.3	-	2	228	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	41	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTTTTGGGTACGATATCTGCA	0.378																																						ENST00000307720.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(121-123)Gta>Ata		peptidylprolyl isomerase D							94.0	91.0	92.0					4																	159642600		2203	4300	6503	SO:0001583	missense	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159642600C>T		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.121G>A	4.37:g.159642600C>T	ENSP00000303754:p.Val41Ile						p.V41I	NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	2	228	-	all_hematologic(180;0.24)		41			PPIase cyclophilin-type.		B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	c.121G>A	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131709	0.56828	.	.	ENSG00000171497	ENST00000307720	T	0.23552	1.9	5.0	5.0	0.66597	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.39083	N	0.001475	T	0.39253	0.1071	M	0.85542	2.76	0.48571	D	0.999676	B	0.20780	0.048	B	0.18561	0.022	T	0.43829	-0.9367	10	0.87932	D	0	-28.2983	19.1814	0.93625	0.0:1.0:0.0:0.0	.	41	Q08752	PPID_HUMAN	I	41	ENSP00000303754:V41I	ENSP00000303754:V41I	V	-	1	0	PPID	159862050	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.597000	0.54031	2.706000	0.92434	0.561000	0.74099	GTA		0.378	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		22	9	0	0	0	1	0	22	9				
PKD1L1	168507	broad.mit.edu	37	7	47851554	47851554	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47851554G>T	ENST00000289672.2	-	50	7492	c.7442C>A	c.(7441-7443)cCt>cAt	p.P2481H	PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2481					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGGGTTGGAGGGTTATAGAG	0.587																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(7441-7443)cCt>cAt		polycystic kidney disease 1 like 1							77.0	63.0	67.0					7																	47851554		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47851554G>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7442C>A	7.37:g.47851554G>T	ENSP00000289672:p.Pro2481His					C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	p.P2481H	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			50	7492	-			2481					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.7442C>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213934	0.58452	.	.	ENSG00000158683	ENST00000289672	T	0.71222	-0.55	5.49	3.64	0.41730	Polycystin cation channel, PKD1/PKD2 (1);	0.256819	0.29752	N	0.011289	T	0.81740	0.4886	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82808	-0.0274	10	0.87932	D	0	-12.4794	13.9478	0.64096	0.0:0.2904:0.7095:0.0	.	2481	Q8TDX9	PK1L1_HUMAN	H	2481	ENSP00000289672:P2481H	ENSP00000289672:P2481H	P	-	2	0	PKD1L1	47818079	1.000000	0.71417	0.055000	0.19348	0.830000	0.47004	1.831000	0.39141	0.647000	0.30713	0.453000	0.30009	CCT		0.587	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		9	2	1	0	1.58986e-06	1	1.84011e-06	9	2				
CRYZL1	9946	broad.mit.edu	37	21	34975779	34975779	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34975779G>T	ENST00000381554.3	-	7	481	c.396C>A	c.(394-396)gcC>gcA	p.A132A	CRYZL1_ENST00000361534.2_Silent_p.A156A|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Silent_p.A94A|CRYZL1_ENST00000381540.3_Silent_p.A132A|CRYZL1_ENST00000290244.5_Silent_p.A117A	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	132					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GAGCTGTATAGGCACGCACTC	0.418																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(466-468)gcC>gcA		crystallin, zeta (quinone reductase)-like 1							233.0	187.0	202.0					21																	34975779		2203	4300	6503	SO:0001819	synonymous_variant	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34975779G>T	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.396C>A	21.37:g.34975779G>T						CRYZL1_ENST00000445393.1_Silent_p.A94A|CRYZL1_ENST00000381540.3_Silent_p.A132A|CRYZL1_ENST00000381554.3_Silent_p.A132A|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Silent_p.A117A	p.A156A			O95825	QORL1_HUMAN			8	607	-			132					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Silent	SNP	ENST00000381554.3	37	c.468C>A	CCDS13633.2	.	.	.	.	.	.	.	.	.	.	G	7.930	0.740482	0.15642	.	.	ENSG00000205758	ENST00000440526	.	.	.	5.41	4.54	0.55810	.	.	.	.	.	T	0.60104	0.2243	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57676	-0.7770	4	.	.	.	-14.3048	9.4355	0.38637	0.0795:0.1444:0.7761:0.0	.	.	.	.	I	76	.	.	L	-	1	2	CRYZL1	33897649	1.000000	0.71417	0.978000	0.43139	0.717000	0.41224	0.471000	0.22100	1.279000	0.44446	0.655000	0.94253	CTA		0.418	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		9	129	1	0	0.0692343	1	0.0706532	9	129				
TAX1BP1	8887	broad.mit.edu	37	7	27788186	27788186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27788186G>A	ENST00000396319.2	+	2	131	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A15T|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A15T|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A15T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	15					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTCCAACTTTGCCCATGTCAT	0.358																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(43-45)Gcc>Acc		Tax1 (human T-cell leukemia virus type I) binding protein 1							92.0	80.0	84.0					7																	27788186		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27788186G>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.43G>A	7.37:g.27788186G>A	ENSP00000379612:p.Ala15Thr					TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A15T|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A15T|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A15T	p.A15T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		2	131	+			15					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.43G>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198666	0.94997	.	.	ENSG00000106052	ENST00000418691;ENST00000543117;ENST00000422800;ENST00000265393;ENST00000409980;ENST00000396319	T;T;T;T;T;T	0.49720	0.77;2.65;0.78;2.65;2.55;2.61	5.73	5.73	0.89815	.	0.000000	0.53938	D	0.000060	T	0.68796	0.3040	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69866	-0.5029	10	0.87932	D	0	-9.1004	19.9019	0.96988	0.0:0.0:1.0:0.0	.	15;15	Q86VP1;Q86VP1-2	TAXB1_HUMAN;.	T	15	ENSP00000411490:A15T;ENSP00000444811:A15T;ENSP00000395290:A15T;ENSP00000265393:A15T;ENSP00000386515:A15T;ENSP00000379612:A15T	ENSP00000265393:A15T	A	+	1	0	TAX1BP1	27754711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.803000	0.85983	2.698000	0.92095	0.591000	0.81541	GCC		0.358	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		8	69	0	0	0	1	0	8	69				
EGR3	1960	broad.mit.edu	37	8	22548564	22548564	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22548564G>T	ENST00000317216.2	-	2	943	c.586C>A	c.(586-588)Ctc>Atc	p.L196I	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.L158I|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	196					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGTGGTAGAGGTTGTAGTCA	0.617																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(586-588)Ctc>Atc		early growth response 3							66.0	69.0	68.0					8																	22548564		2203	4300	6503	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548564G>T	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.586C>A	8.37:g.22548564G>T	ENSP00000318057:p.Leu196Ile					RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.L158I|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR	p.L196I	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	943	-		Prostate(55;0.0421)|Breast(100;0.102)	196					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.586C>A	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959957	0.34565	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.08546	3.08;3.09	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	M	0.68952	2.095	0.80722	D	1	P;P	0.42827	0.565;0.791	P;P	0.44897	0.463;0.463	T	0.00509	-1.1698	10	0.42905	T	0.14	-12.8791	10.6313	0.45538	0.0865:0.0:0.9135:0.0	.	158;196	E7EW38;Q06889	.;EGR3_HUMAN	I	196;158;37	ENSP00000318057:L196I;ENSP00000430310:L158I	ENSP00000318057:L196I	L	-	1	0	EGR3	22604509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.536000	0.73842	2.655000	0.90218	0.655000	0.94253	CTC		0.617	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		25	28	1	0	7.38237e-10	1	9.02878e-10	25	28				
NIPSNAP3B	55335	broad.mit.edu	37	9	107528737	107528737	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107528737C>A	ENST00000374762.3	+	2	263	c.192C>A	c.(190-192)acC>acA	p.T64T	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	64										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						ATCTTCGGACCTCTTACTCTG	0.343																																						ENST00000374762.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(190-192)acC>acA		nipsnap homolog 3B (C. elegans)							157.0	160.0	159.0					9																	107528737		2203	4300	6503	SO:0001819	synonymous_variant	55335							g.chr9:107528737C>A	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.192C>A	9.37:g.107528737C>A						NIPSNAP3B_ENST00000461177.1_Intron	p.T64T	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN			2	263	+			64					Q5VX30|Q9NUM2	Silent	SNP	ENST00000374762.3	37	c.192C>A	CCDS6761.1																																																																																				0.343	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		6	147	1	0	0.00198382	1	0.00210581	6	147				
CKAP4	10970	broad.mit.edu	37	12	106633424	106633424	+	Missense_Mutation	SNP	G	G	A	rs375178726	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106633424G>A	ENST00000378026.4	-	2	1323	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	396						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AAAGGCTTCCGAGTGTCTGAA	0.637													G|||	32	0.00638978	0.0	0.0	5008	,	,		18337	0.0		0.001	False		,,,				2504	0.0317					ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(1186-1188)tCg>tTg		cytoskeleton-associated protein 4							54.0	56.0	55.0					12																	106633424		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633424G>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1187C>T	12.37:g.106633424G>A	ENSP00000367265:p.Ser396Leu						p.S396L	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1323	-			396					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.1187C>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	5.733	0.319667	0.10845	.	.	ENSG00000136026	ENST00000378026	T	0.77620	-1.11	5.95	0.892	0.19230	.	1.181770	0.06253	N	0.692517	T	0.66436	0.2789	L	0.40543	1.245	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.46317	-0.9200	10	0.27082	T	0.32	-0.0524	4.6598	0.12637	0.3125:0.0:0.547:0.1405	.	396	Q07065	CKAP4_HUMAN	L	396	ENSP00000367265:S396L	ENSP00000367265:S396L	S	-	2	0	CKAP4	105157554	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.380000	0.20602	0.112000	0.17975	0.655000	0.94253	TCG		0.637	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			29	32	0	0	0	1	0	29	32				
HGD	3081	broad.mit.edu	37	3	120365896	120365896	+	Missense_Mutation	SNP	G	G	A	rs375396766		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120365896G>A	ENST00000283871.5	-	8	932	c.473C>T	c.(472-474)cCg>cTg	p.P158L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	158					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCTTTCTGCGGAACTGACAA	0.448																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25	GRCh37	CM025361	HGD	M		c.(472-474)cCg>cTg		homogentisate 1,2-dioxygenase		G	LEU/PRO	0,4406		0,0,2203	128.0	117.0	121.0		473	6.1	1.0	3		121	1,8591	1.2+/-3.3	0,1,4295	no	missense	HGD	NM_000187.3	98	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	158/446	120365896	1,12997	2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365896G>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.473C>T	3.37:g.120365896G>A	ENSP00000283871:p.Pro158Leu						p.P158L	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	8	932	-			158					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.473C>T	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.728187|4.728187	0.89390|0.89390	0.0|0.0	1.16E-4|1.16E-4	ENSG00000113924|ENSG00000113924	ENST00000283871;ENST00000476082|ENST00000475447	D;D|.	0.99023|.	-5.34;-5.34|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Cupin, RmlC-type (1);|.	0.050614|.	0.85682|.	D|.	0.000000|.	D|D	0.83815|0.83815	0.5336|0.5336	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.84896|0.84896	0.0839|0.0839	10|5	0.72032|.	D|.	0.01|.	.|.	18.1531|18.1531	0.89682|0.89682	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158|.	Q93099|.	HGD_HUMAN|.	L|C	158;117|2	ENSP00000283871:P158L;ENSP00000419560:P117L|.	ENSP00000283871:P158L|.	P|R	-|-	2|1	0|0	HGD|HGD	121848586|121848586	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.829000|0.829000	0.46940|0.46940	8.870000|8.870000	0.92336|0.92336	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.448	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			25	42	0	0	0	1	0	25	42				
TTC16	158248	broad.mit.edu	37	9	130493506	130493506	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493506T>A	ENST00000373289.3	+	14	2524	c.2444T>A	c.(2443-2445)cTc>cAc	p.L815H	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	815										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AACTGGAGCCTCAGCAAAACT	0.597																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(2443-2445)cTc>cAc		tetratricopeptide repeat domain 16							39.0	42.0	41.0					9																	130493506		2202	4300	6502	SO:0001583	missense	158248						binding	g.chr9:130493506T>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2444T>A	9.37:g.130493506T>A	ENSP00000362386:p.Leu815His					TTC16_ENST00000489226.1_3'UTR	p.L815H	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2524	+			815					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.2444T>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307092	0.40795	.	.	ENSG00000167094	ENST00000373289	T	0.16597	2.33	4.24	1.15	0.20763	.	2.727660	0.01242	N	0.008629	T	0.22666	0.0547	L	0.47716	1.5	0.09310	N	1	P;D	0.54047	0.875;0.964	P;P	0.46975	0.533;0.533	T	0.17471	-1.0368	10	0.56958	D	0.05	-2.4319	6.8299	0.23905	0.0:0.7757:0.0:0.2243	.	802;815	B4DZ42;Q8NEE8	.;TTC16_HUMAN	H	815	ENSP00000362386:L815H	ENSP00000362386:L815H	L	+	2	0	TTC16	129533327	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.363000	0.07593	0.235000	0.21160	-0.464000	0.05259	CTC		0.597	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		15	31	0	0	0	1	0	15	31				
PSMA2	5683	broad.mit.edu	37	7	42964361	42964361	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42964361T>C	ENST00000223321.4	-	4	351	c.287A>G	c.(286-288)cAa>cGa	p.Q96R	PSMA2_ENST00000538645.1_Missense_Mutation_p.Q18R|PSMA2_ENST00000442788.1_Missense_Mutation_p.Q96R|PSMA2_ENST00000445517.1_Missense_Mutation_p.Q26R	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	96					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AAGATAGTATTGTTGAGCTAG	0.403																																						ENST00000538645.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(52-54)cAa>cGa		proteasome (prosome, macropain) subunit, alpha type, 2							118.0	105.0	109.0					7																	42964361		2203	4300	6503	SO:0001583	missense	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42964361T>C	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.287A>G	7.37:g.42964361T>C	ENSP00000223321:p.Gln96Arg					PSMA2_ENST00000442788.1_Missense_Mutation_p.Q96R|PSMA2_ENST00000445517.1_Missense_Mutation_p.Q26R|PSMA2_ENST00000223321.4_Missense_Mutation_p.Q96R	p.Q18R			P25787	PSA2_HUMAN			3	225	-			96					Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	37	c.53A>G	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641187	0.47153	.	.	ENSG00000106588	ENST00000223321;ENST00000445517;ENST00000538645	T;T;T	0.21031	2.03;2.03;2.03	5.58	5.58	0.84498	.	0.051133	0.85682	D	0.000000	T	0.22627	0.0546	L	0.38175	1.15	0.58432	D	0.999995	B	0.25609	0.13	B	0.34536	0.185	T	0.03829	-1.1000	10	0.34782	T	0.22	.	15.7234	0.77732	0.0:0.0:0.0:1.0	.	96	P25787	PSA2_HUMAN	R	96;26;18	ENSP00000223321:Q96R;ENSP00000404858:Q26R;ENSP00000440009:Q18R	ENSP00000223321:Q96R	Q	-	2	0	PSMA2	42930886	1.000000	0.71417	0.928000	0.36995	0.940000	0.58332	7.945000	0.87732	2.112000	0.64535	0.482000	0.46254	CAA		0.403	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		18	78	0	0	0	1	0	18	78				
ANPEP	290	broad.mit.edu	37	15	90328653	90328653	+	Missense_Mutation	SNP	G	G	A	rs376373199		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90328653G>A	ENST00000300060.6	-	21	3144	c.2831C>T	c.(2830-2832)aCg>aTg	p.T944M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	944	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GTTGGCTTTCGTCTTCTCCAG	0.547																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2830-2832)aCg>aTg		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)	G	MET/THR	0,4400		0,0,2200	216.0	196.0	203.0		2831	5.3	1.0	15		203	2,8596	2.2+/-6.3	0,2,4297	no	missense	ANPEP	NM_001150.2	81	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	944/968	90328653	2,12996	2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90328653G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2831C>T	15.37:g.90328653G>A	ENSP00000300060:p.Thr944Met						p.T944M	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		21	3144	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		944			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.2831C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119078	0.77323	0.0	2.33E-4	ENSG00000166825	ENST00000300060	T	0.01265	5.08	5.31	5.31	0.75309	.	0.051915	0.85682	D	0.000000	T	0.08802	0.0218	M	0.77313	2.365	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.01504	-1.1338	10	0.45353	T	0.12	.	16.5192	0.84309	0.0:0.0:1.0:0.0	.	944	P15144	AMPN_HUMAN	M	944	ENSP00000300060:T944M	ENSP00000300060:T944M	T	-	2	0	ANPEP	88129657	1.000000	0.71417	0.965000	0.40720	0.818000	0.46254	7.457000	0.80775	2.763000	0.94921	0.650000	0.86243	ACG		0.547	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			55	66	0	0	0	1	0	55	66				
GLA	2717	broad.mit.edu	37	X	100662836	100662836	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662836A>C	ENST00000218516.3	-	1	77	c.56T>G	c.(55-57)cTg>cGg	p.L19R	HNRNPH2_ENST00000316594.5_5'Flank|GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	19					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AACGAGGGCCAGGAAGCGAAG	0.602																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14	GRCh37	CM044894	GLA	M		c.(55-57)cTg>cGg		galactosidase, alpha	Agalsidase beta(DB00103)						86.0	84.0	85.0					X																	100662836		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100662836A>C	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.56T>G	X.37:g.100662836A>C	ENSP00000218516:p.Leu19Arg					RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.L19R	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			1	77	-			19					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.56T>G	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	A	9.875	1.200031	0.22121	.	.	ENSG00000102393	ENST00000218516	D	0.99956	-8.89	5.4	1.7	0.24286	.	0.781774	0.12256	N	0.485141	D	0.99680	0.9880	.	.	.	0.09310	N	1	P;P	0.39920	0.695;0.638	B;B	0.36719	0.231;0.125	D	0.99999	1.8744	8	.	.	.	0.2298	3.6757	0.08291	0.6596:0.0:0.1777:0.1627	.	19;19	B4DLT5;P06280	.;AGAL_HUMAN	R	19	ENSP00000218516:L19R	.	L	-	2	0	GLA	100549492	0.701000	0.27806	0.000000	0.03702	0.267000	0.26476	3.509000	0.53386	0.036000	0.15547	0.483000	0.47432	CTG		0.602	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			12	98	0	0	0	1	0	12	98				
OXSM	54995	broad.mit.edu	37	3	25835792	25835792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25835792C>A	ENST00000280701.3	+	3	1286	c.1187C>A	c.(1186-1188)gCt>gAt	p.A396D	OXSM_ENST00000420173.2_Missense_Mutation_p.A313D	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	396					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCGAGGCAGCTTTTACCACA	0.438																																						ENST00000280701.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1186-1188)gCt>gAt		3-oxoacyl-ACP synthase, mitochondrial							104.0	105.0	105.0					3																	25835792		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25835792C>A	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1187C>A	3.37:g.25835792C>A	ENSP00000280701:p.Ala396Asp					OXSM_ENST00000420173.2_Missense_Mutation_p.A313D	p.A396D	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			3	1286	+			396						Missense_Mutation	SNP	ENST00000280701.3	37	c.1187C>A	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434566	0.96150	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	5.52	5.52	0.82312	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.053587	0.85682	D	0.000000	D	0.83677	0.5306	M	0.83012	2.62	0.44247	D	0.997096	D;P	0.76494	0.999;0.92	D;P	0.69824	0.966;0.847	D	0.85767	0.1353	9	0.87932	D	0	-12.9253	19.4602	0.94914	0.0:1.0:0.0:0.0	.	313;396	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	D	396;313	.	ENSP00000280701:A396D	A	+	2	0	OXSM	25810796	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.021000	0.70832	2.590000	0.87494	0.655000	0.94253	GCT		0.438	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		9	93	1	0	1.12685e-05	1	1.27857e-05	9	93				
ZBTB11	27107	broad.mit.edu	37	3	101378786	101378786	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101378786C>T	ENST00000312938.4	-	6	2467	c.1887G>A	c.(1885-1887)tcG>tcA	p.S629S	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGAATTGGACGAGGATGAAG	0.398																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1885-1887)tcG>tcA		zinc finger and BTB domain containing 11							141.0	130.0	134.0					3																	101378786		2203	4300	6503	SO:0001819	synonymous_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378786C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1887G>A	3.37:g.101378786C>T							p.S629S	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			6	2467	-			629					Q2NKP9	Silent	SNP	ENST00000312938.4	37	c.1887G>A	CCDS2943.1																																																																																				0.398	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		26	39	0	0	0	1	0	26	39				
CCDC132	55610	broad.mit.edu	37	7	92887538	92887538	+	Missense_Mutation	SNP	C	C	T	rs374485392		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92887538C>T	ENST00000305866.5	+	7	618	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	CCDC132_ENST00000251739.5_Missense_Mutation_p.R164C|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.R134C	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	164						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAAGGAAACGTCAGTTGCT	0.313																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(400-402)Cgt>Tgt		coiled-coil domain containing 132		C	CYS/ARG,CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	66.0	69.0	68.0		490,490	5.2	1.0	7		68	0,8596		0,0,4298	no	missense,missense	CCDC132	NM_017667.2,NM_024553.2	180,180	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	164/965,164/328	92887538	1,12999	2202	4298	6500	SO:0001583	missense	55610							g.chr7:92887538C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.490C>T	7.37:g.92887538C>T	ENSP00000307666:p.Arg164Cys					CCDC132_ENST00000251739.5_Missense_Mutation_p.R164C|CCDC132_ENST00000305866.5_Missense_Mutation_p.R164C|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Intron	p.R134C	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		8	620	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		164					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.400C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250670	0.80135	2.27E-4	0.0	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.15	5.15	0.70609	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.981;0.97	T	0.77986	-0.2381	9	0.72032	D	0.01	-1.208	13.2674	0.60141	0.2781:0.7219:0.0:0.0	.	134;164;164	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	C	164;164;134;163	.	ENSP00000251739:R164C	R	+	1	0	CCDC132	92725474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.481000	0.35476	2.556000	0.86216	0.491000	0.48974	CGT		0.313	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		10	48	0	0	0	1	0	10	48				
ALDH1B1	219	broad.mit.edu	37	9	38396998	38396998	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38396998T>G	ENST00000377698.3	+	2	1406	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	418					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GAGGAGATCTTTGGGCCTGTG	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1252-1254)tTt>tGt		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						92.0	78.0	83.0					9																	38396998		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396998T>G	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1253T>G	9.37:g.38396998T>G	ENSP00000366927:p.Phe418Cys						p.F418C	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1406	+			418					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1253T>G	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308962	0.60305	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	D	0.90732	-2.72	5.81	4.65	0.58169	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000003	D	0.97576	0.9206	H	0.99890	4.9	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.96648	0.9479	10	0.72032	D	0.01	.	10.2421	0.43319	0.0:0.079:0.0:0.921	.	418	P30837	AL1B1_HUMAN	C	418;119	ENSP00000366927:F418C	ENSP00000366927:F418C	F	+	2	0	ALDH1B1	38386998	1.000000	0.71417	0.974000	0.42286	0.996000	0.88848	5.992000	0.70609	0.998000	0.38996	0.533000	0.62120	TTT		0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			12	26	0	0	0	1	0	12	26				
TRAF3IP3	80342	broad.mit.edu	37	1	209950737	209950737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209950737G>A	ENST00000367024.1	+	12	1610	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R365Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.R101Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	365						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGGCCCTGCGATTTTTGGAA	0.537																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1093-1095)cGa>cAa		TRAF3 interacting protein 3							63.0	64.0	64.0					1																	209950737		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209950737G>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1094G>A	1.37:g.209950737G>A	ENSP00000355991:p.Arg365Gln					TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R365Q	p.R365Q			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	12	1610	+			365					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.1094G>A	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	9.453	1.091040	0.20471	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000477431	T;T;T;T;T;T;T	0.78924	-1.22;-1.1;-1.1;-1.1;-1.1;-1.22;-1.1	5.42	-2.65	0.06095	.	0.890474	0.09470	N	0.797785	T	0.46737	0.1408	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.15719	0.014;0.014;0.014	B;B;B	0.06405	0.001;0.001;0.002	T	0.34453	-0.9828	10	0.20046	T	0.44	0.0761	10.8919	0.47000	0.7244:0.0:0.2756:0.0	.	365;345;345	Q9Y228;Q9Y228-2;E2QRE5	T3JAM_HUMAN;.;.	Q	345;365;345;365;345;101;101	ENSP00000383743:R345Q;ENSP00000355992:R365Q;ENSP00000355993:R345Q;ENSP00000355991:R365Q;ENSP00000010338:R345Q;ENSP00000355990:R101Q;ENSP00000417417:R101Q	ENSP00000010338:R345Q	R	+	2	0	TRAF3IP3	208017360	0.000000	0.05858	0.301000	0.25044	0.989000	0.77384	-0.537000	0.06128	-0.300000	0.08895	0.555000	0.69702	CGA		0.537	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			6	28	0	0	0	1	0	6	28				
ACTN2	88	broad.mit.edu	37	1	236902708	236902708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236902708G>A	ENST00000366578.4	+	10	1149	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.R328Q|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	328					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GATTACCGCCGGAAGCACAAG	0.577																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(982-984)cGg>cAg		actinin, alpha 2							127.0	112.0	117.0					1																	236902708		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902708G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.983G>A	1.37:g.236902708G>A	ENSP00000355537:p.Arg328Gln					ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.R328Q|ACTN2_ENST00000492634.1_3'UTR	p.R328Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1149	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	328					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.983G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703266	0.88924	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.49432	0.78;0.78	5.51	5.51	0.81932	.	0.097943	0.64402	D	0.000001	T	0.72285	0.3441	M	0.84219	2.685	0.80722	D	1	B;P;D	0.64830	0.207;0.725;0.994	B;B;D	0.69307	0.047;0.277;0.963	T	0.75795	-0.3192	10	0.66056	D	0.02	.	19.4071	0.94651	0.0:0.0:1.0:0.0	.	328;98;328	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	Q	328;328;97	ENSP00000443495:R328Q;ENSP00000355537:R328Q	ENSP00000355537:R328Q	R	+	2	0	ACTN2	234969331	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.820000	0.99359	2.585000	0.87301	0.555000	0.69702	CGG		0.577	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		7	80	0	0	0	1	0	7	80				
ENOSF1	55556	broad.mit.edu	37	18	678709	678709	+	Missense_Mutation	SNP	G	G	A	rs376476881		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:678709G>A	ENST00000251101.7	-	12	993	c.905C>T	c.(904-906)gCc>gTc	p.A302V	ENOSF1_ENST00000580982.1_Missense_Mutation_p.A226V|ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000319815.6_Missense_Mutation_p.A72V|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A220V|ENOSF1_ENST00000583973.1_5'UTR	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	302					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TTCTCCTGTGGCAATGCCAAT	0.483																																						ENST00000319815.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(214-216)gCc>gTc		enolase superfamily member 1							169.0	144.0	152.0					18																	678709		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:678709G>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.905C>T	18.37:g.678709G>A	ENSP00000251101:p.Ala302Val					ENOSF1_ENST00000383578.3_Missense_Mutation_p.A220V|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000251101.7_Missense_Mutation_p.A302V|ENOSF1_ENST00000580982.1_Missense_Mutation_p.A226V	p.A72V			Q7L5Y1	ENOF1_HUMAN			4	1479	-			302					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.215C>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940449	0.92526	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101	T;T;T	0.52754	0.65;0.65;0.65	5.8	5.8	0.92144	.	.	.	.	.	T	0.76205	0.3955	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.64506	0.926;0.926;0.879	T	0.81127	-0.1074	9	0.62326	D	0.03	.	19.6521	0.95822	0.0:0.0:1.0:0.0	.	121;302;220	B3KXE4;Q7L5Y1;Q7L5Y1-2	.;ENOF1_HUMAN;.	V	220;72;302	ENSP00000373072:A220V;ENSP00000313346:A72V;ENSP00000251101:A302V	ENSP00000251101:A302V	A	-	2	0	ENOSF1	668709	1.000000	0.71417	0.960000	0.40013	0.924000	0.55760	7.670000	0.83925	2.733000	0.93635	0.655000	0.94253	GCC		0.483	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		8	82	0	0	0	1	0	8	82				
NHLH1	4807	broad.mit.edu	37	1	160340879	160340879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160340879G>A	ENST00000302101.5	+	2	804	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	120	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCGCCTGGCCATCTGCTA	0.622																																						ENST00000302101.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(358-360)Gcc>Acc		nescient helix loop helix 1							78.0	80.0	80.0					1																	160340879		2203	4300	6503	SO:0001583	missense	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340879G>A	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.358G>A	1.37:g.160340879G>A	ENSP00000302189:p.Ala120Thr						p.A120T	NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	804	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		120			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000302101.5	37	c.358G>A	CCDS1204.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697225	0.68386	.	.	ENSG00000171786	ENST00000302101	D	0.99422	-5.88	3.98	3.98	0.46160	Helix-loop-helix DNA-binding (5);	0.000000	0.53938	D	0.000042	D	0.99245	0.9737	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99104	1.0844	10	0.87932	D	0	-17.4587	15.1633	0.72801	0.0:0.0:1.0:0.0	.	120	Q02575	HEN1_HUMAN	T	120	ENSP00000302189:A120T	ENSP00000302189:A120T	A	+	1	0	NHLH1	158607503	1.000000	0.71417	0.947000	0.38551	0.816000	0.46133	9.491000	0.97954	2.215000	0.71742	0.655000	0.94253	GCC		0.622	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		18	52	0	0	0	1	0	18	52				
NRBP1	29959	broad.mit.edu	37	2	27663750	27663750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27663750C>T	ENST00000233557.3	+	15	2104	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	NRBP1_ENST00000379863.3_Silent_p.V432V|NRBP1_ENST00000379852.3_Silent_p.V424V|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	424					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CATCACCTGTCGTGCCCCCCT	0.602																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1270-1272)gtC>gtT		nuclear receptor binding protein 1							58.0	59.0	59.0					2																	27663750		2203	4300	6503	SO:0001819	synonymous_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27663750C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1272C>T	2.37:g.27663750C>T						NRBP1_ENST00000379852.3_Silent_p.V424V|NRBP1_ENST00000379863.3_Silent_p.V432V	p.V424V			Q9UHY1	NRBP_HUMAN			15	2104	+	Acute lymphoblastic leukemia(172;0.155)		424					B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	c.1272C>T	CCDS1753.1																																																																																				0.602	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		21	32	0	0	0	1	0	21	32				
STAT6	6778	broad.mit.edu	37	12	57499092	57499092	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57499092C>A	ENST00000300134.3	-	9	1168	c.843G>T	c.(841-843)caG>caT	p.Q281H	STAT6_ENST00000454075.3_Missense_Mutation_p.Q281H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q171H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q281H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q171H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q281H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCTTCAGTACCTGGGGGGGCT	0.632																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(841-843)caG>caT		signal transducer and activator of transcription 6, interleukin-4 induced							35.0	39.0	38.0					12																	57499092		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499092C>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.843G>T	12.37:g.57499092C>A	ENSP00000300134:p.Gln281His					STAT6_ENST00000538913.2_Missense_Mutation_p.Q171H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q171H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q281H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q281H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q281H	p.Q281H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1168	-			281					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.843G>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385789	0.61956	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	4.64	3.75	0.43078	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	M	0.83603	2.65	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.92609	0.6098	10	0.87932	D	0	-16.3721	7.0071	0.24842	0.0:0.7992:0.0:0.2008	.	281;281	A8K4S9;P42226	.;STAT6_HUMAN	H	281;171;171;281;281;171;281;171;281	ENSP00000300134:Q281H;ENSP00000445409:Q171H;ENSP00000438451:Q281H;ENSP00000451742:Q281H;ENSP00000444530:Q171H;ENSP00000401486:Q281H	ENSP00000300134:Q281H	Q	-	3	2	STAT6	55785359	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.587000	0.36622	1.171000	0.42768	0.561000	0.74099	CAG		0.632	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		5	43	1	0	0.014758	1	0.0152625	5	43				
GBA2	57704	broad.mit.edu	37	9	35736702	35736702	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35736702G>A	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Silent_p.L365L|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTCATTTTGCAGGACAGAT	0.562											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(1093-1095)ttG>ttA		cAMP responsive element binding protein 3							105.0	108.0	107.0					9																	35736702		2203	4300	6503	SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736702G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736702G>A			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.L365L	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1533	+	all_epithelial(49;0.167)		389			Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.1095G>A	CCDS6589.1																																																																																				0.562	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		21	149	0	0	0	1	0	21	149				
TOR2A	27433	broad.mit.edu	37	9	130495551	130495551	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130495551C>T	ENST00000373284.5	-	3	640				TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000373281.5_Missense_Mutation_p.A236T|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A						chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						ACTGGGAAAGCCCAGCTAAGC	0.542																																						ENST00000373281.5																			0				NS(1)|endometrium(2)	3						c.(706-708)Gct>Act		torsin family 2, member A							74.0	75.0	75.0					9																	130495551		2203	4299	6502	SO:0001627	intron_variant	27433				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity	g.chr9:130495551C>T	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.593+112G>A	9.37:g.130495551C>T						TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000373284.5_Intron|TOR2A_ENST00000472723.1_5'UTR	p.A236T	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN			3	729	-			0					A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	37	c.706G>A	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870272	0.33069	.	.	ENSG00000160404	ENST00000373281	T	0.68479	-0.33	3.73	1.84	0.25277	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21895	-1.0232	8	0.13853	T	0.58	.	4.6472	0.12577	0.3834:0.5092:0.0:0.1073	.	236	Q5JU69-2	.	T	236	ENSP00000362378:A236T	ENSP00000362378:A236T	A	-	1	0	TOR2A	129535372	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.943000	0.03917	0.365000	0.24400	0.484000	0.47621	GCT		0.542	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	NM_130459		29	60	0	0	0	1	0	29	60				
DDX19B	11269	broad.mit.edu	37	16	70349948	70349948	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70349948C>T	ENST00000288071.6	+	4	482	c.237C>T	c.(235-237)gtC>gtT	p.V79V	DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000451014.3_Silent_p.V84V|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000563392.1_5'UTR|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Silent_p.V79V|DDX19B_ENST00000568625.1_5'UTR|DDX19B_ENST00000563206.1_Silent_p.V84V|DDX19B_ENST00000355992.3_Silent_p.V79V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	79	N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AAGTGGAAGTCCTGCAGCGGG	0.473																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(235-237)gtC>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							211.0	205.0	207.0					16																	70349948		2198	4300	6498	SO:0001819	synonymous_variant	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70349948C>T	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.237C>T	16.37:g.70349948C>T						DDX19B_ENST00000563206.1_Silent_p.V84V|DDX19B_ENST00000451014.3_Silent_p.V84V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000568625.1_5'UTR|DDX19B_ENST00000355992.3_Silent_p.V79V|DDX19B_ENST00000563392.1_5'UTR|RP11-529K1.3_ENST00000567706.1_Silent_p.V79V	p.V79V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			4	482	+		Ovarian(137;0.0694)	79					B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	ENST00000288071.6	37	c.237C>T	CCDS10888.1																																																																																				0.473	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		83	188	0	0	0	1	0	83	188				
CCDC150	284992	broad.mit.edu	37	2	197511119	197511119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511119G>A	ENST00000389175.4	+	2	202	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	23										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACATCAACGCTACAGCTTC	0.418																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(67-69)Gct>Act		coiled-coil domain containing 150							171.0	158.0	162.0					2																	197511119		1925	4121	6046	SO:0001583	missense	284992							g.chr2:197511119G>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.67G>A	2.37:g.197511119G>A	ENSP00000373827:p.Ala23Thr					CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	p.A23T	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			2	202	+			23					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.67G>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892329	0.17613	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30714	1.52	4.53	1.71	0.24356	.	0.366873	0.23688	N	0.045541	T	0.23727	0.0574	M	0.64997	1.995	0.30500	N	0.770509	B;B	0.30021	0.049;0.265	B;B	0.20577	0.019;0.03	T	0.16158	-1.0412	10	0.52906	T	0.07	.	4.0755	0.09902	0.1965:0.0:0.619:0.1845	.	23;23	Q8NCX0;F5H6M2	CC150_HUMAN;.	T	23	ENSP00000373827:A23T	ENSP00000373827:A23T	A	+	1	0	CCDC150	197219364	0.004000	0.15560	0.316000	0.25252	0.270000	0.26580	0.309000	0.19332	0.256000	0.21614	-0.119000	0.15052	GCT		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		42	64	0	0	0	1	0	42	64				
PKD1	5310	broad.mit.edu	37	16	2140444	2140444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2140444A>G	ENST00000262304.4	-	45	12494	c.12286T>C	c.(12286-12288)Tgg>Cgg	p.W4096R	PKD1_ENST00000423118.1_Missense_Mutation_p.W4095R|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4096					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGCGCCCCACAGCCGCAGT	0.677																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(12286-12288)Tgg>Cgg		polycystic kidney disease 1 (autosomal dominant)							19.0	25.0	23.0					16																	2140444		2183	4290	6473	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2140444A>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12286T>C	16.37:g.2140444A>G	ENSP00000262304:p.Trp4096Arg					PKD1_ENST00000423118.1_Missense_Mutation_p.W4095R	p.W4096R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			45	12494	-			4096					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.12286T>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	a	12.25	1.880489	0.33255	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70164	-0.46;-0.46	3.98	3.98	0.46160	Polycystin cation channel, PKD1/PKD2 (1);	0.177728	0.38778	N	0.001576	T	0.77811	0.4186	M	0.66939	2.045	0.36189	D	0.849942	D;D	0.69078	0.997;0.996	D;D	0.68039	0.955;0.942	D	0.83872	0.0274	10	0.59425	D	0.04	.	13.0368	0.58877	1.0:0.0:0.0:0.0	.	4095;4096	P98161-3;P98161	.;PKD1_HUMAN	R	4096;4095;3430	ENSP00000262304:W4096R;ENSP00000399501:W4095R	ENSP00000262304:W4096R	W	-	1	0	PKD1	2080445	1.000000	0.71417	0.832000	0.32986	0.105000	0.19272	6.081000	0.71309	1.665000	0.50811	0.255000	0.18592	TGG		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	9	0	0	0	1	0	4	9				
HFE	3077	broad.mit.edu	37	6	26091284	26091284	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091284T>C	ENST00000357618.5	+	2	414	c.292T>C	c.(292-294)Ttc>Ctc	p.F98L	HFE_ENST00000309234.6_Missense_Mutation_p.F98L|HFE_ENST00000349999.4_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.F75L|HFE_ENST00000353147.5_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.F98L|HFE_ENST00000336625.8_Missense_Mutation_p.F98L|HFE_ENST00000317896.7_Missense_Mutation_p.F98L|HFE_ENST00000470149.1_Missense_Mutation_p.F98L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	98	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGATCACATGTTCACTGTTGA	0.507									Hemochromatosis																													ENST00000357618.5																			0				endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(292-294)Ttc>Ctc		hemochromatosis							114.0	112.0	113.0					6																	26091284		2203	4300	6503	SO:0001583	missense	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091284T>C		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.292T>C	6.37:g.26091284T>C	ENSP00000417404:p.Phe98Leu					HFE_ENST00000309234.6_Missense_Mutation_p.F98L|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.F98L|HFE_ENST00000349999.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.F98L|HFE_ENST00000470149.1_Missense_Mutation_p.F98L|HFE_ENST00000461397.1_Missense_Mutation_p.F98L|HFE_ENST00000353147.5_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.F75L	p.F98L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN			2	414	+			98			Alpha-1.		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	c.292T>C	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775102	0.70107	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	D;T;D;D;T;D;D	0.89875	-2.58;5.62;-2.58;-2.58;5.62;-2.58;-2.58	5.16	5.16	0.70880	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.206536	0.34178	N	0.004198	D	0.89392	0.6702	M	0.81179	2.53	0.50632	D	0.999882	D;D;D;D;D;D	0.60160	0.969;0.987;0.987;0.961;0.97;0.969	P;P;P;P;B;P	0.59056	0.653;0.851;0.851;0.521;0.343;0.653	D	0.87940	0.2716	10	0.12430	T	0.62	.	11.2966	0.49282	0.0:0.0:0.0:1.0	.	98;98;98;98;75;98	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	L	75;98;98;98;98;98;98;98	ENSP00000380217:F75L;ENSP00000313776:F98L;ENSP00000417404:F98L;ENSP00000419725:F98L;ENSP00000337819:F98L;ENSP00000420802:F98L;ENSP00000311698:F98L	ENSP00000311698:F98L	F	+	1	0	HFE	26199263	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.712000	0.54875	2.156000	0.67533	0.533000	0.62120	TTC		0.507	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			24	49	0	0	0	1	0	24	49				
RNF213	57674	broad.mit.edu	37	17	78327925	78327925	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78327925T>C	ENST00000582970.1	+	35	10828	c.10685T>C	c.(10684-10686)gTg>gCg	p.V3562A	RNF213_ENST00000336301.6_Missense_Mutation_p.V1635A|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3611A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3562					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGAGGGTGGTGCTCCTCCTG	0.637																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10684-10686)gTg>gCg		ring finger protein 213							58.0	50.0	53.0					17																	78327925		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78327925T>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10685T>C	17.37:g.78327925T>C	ENSP00000464087:p.Val3562Ala					RNF213_ENST00000336301.6_Missense_Mutation_p.V1635A|RNF213_ENST00000508628.2_Missense_Mutation_p.V3611A|CTD-2047H16.4_ENST00000575034.1_RNA	p.V3562A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		35	10828	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.10685T>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.269803	0.23221	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.20881	2.04	4.88	-3.86	0.04230	.	0.598323	0.17220	N	0.182377	T	0.11067	0.0270	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.0	T	0.16158	-1.0412	10	0.33141	T	0.24	.	9.0294	0.36249	0.2961:0.4983:0.0:0.2056	.	3611;1635	C9JCP4;Q63HN8	.;RN213_HUMAN	A	3562;3611;1635	ENSP00000338218:V1635A	ENSP00000338218:V1635A	V	+	2	0	RNF213	75942520	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.558000	0.45879	-1.058000	0.03197	-1.216000	0.01612	GTG		0.637	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	44	0	0	0	1	0	6	44				
ZNF827	152485	broad.mit.edu	37	4	146686752	146686752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146686752G>T	ENST00000508784.1	-	12	3226	c.2999C>A	c.(2998-3000)tCt>tAt	p.S1000Y	ZNF827_ENST00000513320.1_Missense_Mutation_p.S650Y|ZNF827_ENST00000379448.4_Missense_Mutation_p.S1000Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	1000					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGGCATGACAGAGATGACCAG	0.542																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2998-3000)tCt>tAt		zinc finger protein 827							105.0	96.0	99.0					4																	146686752		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686752G>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2999C>A	4.37:g.146686752G>T	ENSP00000421863:p.Ser1000Tyr					ZNF827_ENST00000379448.4_Missense_Mutation_p.S1000Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.S650Y	p.S1000Y			Q17R98	ZN827_HUMAN			12	3226	-	all_hematologic(180;0.151)		1000					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.2999C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.758128|4.758128	0.89843|0.89843	.|.	.|.	ENSG00000151612|ENSG00000151612	ENST00000511659|ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	.|T;T;T	.|0.08008	.|3.2;3.14;3.24	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.050177	.|0.85682	.|D	.|0.000000	T|T	0.19485|0.19485	0.0468|0.0468	N|N	0.24115|0.24115	0.695|0.695	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D;D	.|0.69078	.|0.997;0.995;0.997;0.99	.|D;D;D;P	.|0.80764	.|0.994;0.986;0.994;0.855	T|T	0.02075|0.02075	-1.1218|-1.1218	5|10	.|0.72032	.|D	.|0.01	-12.3684|-12.3684	19.5766|19.5766	0.95447|0.95447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|650;1000;1000;650	.|G5E9Z1;Q17R98;Q17R98-2;E7ESI8	.|.;ZN827_HUMAN;.;.	M|Y	101|1000;650;1000;999;650	.|ENSP00000421863:S1000Y;ENSP00000423130:S650Y;ENSP00000368761:S1000Y	.|ENSP00000281318:S999Y	L|S	-|-	1|2	2|0	ZNF827|ZNF827	146906202|146906202	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.996000|0.996000	0.88848|0.88848	8.808000|8.808000	0.91939|0.91939	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.542	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		4	83	1	0	0.00909568	1	0.00947522	4	83				
CAPSL	133690	broad.mit.edu	37	5	35921134	35921134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921134C>T	ENST00000397367.2	-	2	215	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	CAPSL_ENST00000514524.1_Missense_Mutation_p.R30Q|CAPSL_ENST00000397366.1_Missense_Mutation_p.R30Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	30						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GCACTGCAGTCGGAGTCTTTC	0.607																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(88-90)cGa>cAa		calcyphosine-like							99.0	87.0	91.0					5																	35921134		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35921134C>T	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.89G>A	5.37:g.35921134C>T	ENSP00000380524:p.Arg30Gln					CAPSL_ENST00000397366.1_Missense_Mutation_p.R30Q|CAPSL_ENST00000514524.1_Missense_Mutation_p.R30Q	p.R30Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		2	215	-	all_lung(31;0.000268)		30						Missense_Mutation	SNP	ENST00000397367.2	37	c.89G>A	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	36	5.691378	0.96793	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;T	0.84660	-1.79;-1.79;-1.88;0.55	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.94771	0.7945	10	0.72032	D	0.01	-7.6963	17.813	0.88622	0.0:1.0:0.0:0.0	.	30	Q8WWF8	CAPSL_HUMAN	Q	30	ENSP00000380524:R30Q;ENSP00000380523:R30Q;ENSP00000424806:R30Q;ENSP00000421018:R30Q	ENSP00000380523:R30Q	R	-	2	0	CAPSL	35956891	1.000000	0.71417	0.908000	0.35775	0.989000	0.77384	6.839000	0.75364	2.367000	0.80283	0.563000	0.77884	CGA		0.607	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		16	39	0	0	0	1	0	16	39				
BTNL8	79908	broad.mit.edu	37	5	180335749	180335749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180335749G>T	ENST00000340184.4	+	2	419	c.213G>T	c.(211-213)aaG>aaT	p.K71N	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000231229.4_Missense_Mutation_p.K71N|BTNL8_ENST00000508408.1_Missense_Mutation_p.K71N|BTNL8_ENST00000505126.1_5'Flank|Y_RNA_ENST00000410920.1_RNA	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	71	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGACGGGAAGGACCAGCCAT	0.527																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(211-213)aaG>aaT		butyrophilin-like 8							178.0	174.0	176.0					5																	180335749		2203	4300	6503	SO:0001583	missense	79908					integral to membrane		g.chr5:180335749G>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.213G>T	5.37:g.180335749G>T	ENSP00000342197:p.Lys71Asn					BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.K71N|BTNL8_ENST00000340184.4_Missense_Mutation_p.K71N	p.K71N	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	447	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	71			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.213G>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952430	0.34471	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.64803	-0.12;-0.12;-0.12	2.74	-4.75	0.03239	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69351	0.3101	M	0.65498	2.005	0.24698	N	0.993271	D;D;D	0.71674	0.998;0.998;0.962	D;D;P	0.66351	0.943;0.943;0.542	T	0.63825	-0.6549	9	0.54805	T	0.06	.	7.7936	0.29135	0.633:0.0:0.367:0.0	.	71;71;71	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	N	71	ENSP00000231229:K71N;ENSP00000342197:K71N;ENSP00000424585:K71N	ENSP00000231229:K71N	K	+	3	2	BTNL8	180268355	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.837000	0.01689	-0.988000	0.03489	-0.436000	0.05848	AAG		0.527	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		34	80	1	0	3.03874e-20	1	3.98683e-20	34	80				
RGS18	64407	broad.mit.edu	37	1	192127873	192127873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192127873G>A	ENST00000367460.3	+	1	287	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	36					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAGCAAAGAAGCCAAAAT	0.274																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(106-108)Gaa>Aaa		regulator of G-protein signaling 18							49.0	52.0	51.0					1																	192127873		2202	4288	6490	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192127873G>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.106G>A	1.37:g.192127873G>A	ENSP00000356430:p.Glu36Lys					RGS18_ENST00000481707.1_3'UTR	p.E36K	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			1	287	+			36					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.106G>A	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815861	0.50527	.	.	ENSG00000150681	ENST00000367460	T	0.49720	0.77	6.06	6.06	0.98353	.	0.312611	0.37715	N	0.001973	T	0.42810	0.1219	L	0.57536	1.79	0.44282	D	0.997149	P	0.36282	0.546	B	0.32980	0.156	T	0.31724	-0.9933	10	0.08837	T	0.75	.	17.359	0.87345	0.0:0.0:1.0:0.0	.	36	Q9NS28	RGS18_HUMAN	K	36	ENSP00000356430:E36K	ENSP00000356430:E36K	E	+	1	0	RGS18	190394496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.605000	0.67634	2.880000	0.98712	0.650000	0.86243	GAA		0.274	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		11	38	0	0	0	1	0	11	38				
RHBDL3	162494	broad.mit.edu	37	17	30632392	30632392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30632392G>A	ENST00000269051.4	+	7	828	c.814G>A	c.(814-816)Gct>Act	p.A272T	RHBDL3_ENST00000538145.1_Missense_Mutation_p.A264T|RHBDL3_ENST00000536287.1_Missense_Mutation_p.A174T	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	272						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.A272S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGACATGACCGCTCCAGTCGT	0.577																																						ENST00000269051.4																			1	Substitution - Missense(1)	p.A272S(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(814-816)Gct>Act		rhomboid, veinlet-like 3 (Drosophila)							171.0	137.0	148.0					17																	30632392		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30632392G>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.814G>A	17.37:g.30632392G>A	ENSP00000269051:p.Ala272Thr					RHBDL3_ENST00000538145.1_Missense_Mutation_p.A264T|RHBDL3_ENST00000536287.1_Missense_Mutation_p.A174T	p.A272T	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			7	828	+		Breast(31;0.116)|Ovarian(249;0.182)	272					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.814G>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745684	0.89663	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.13538	2.58;2.58;2.58	6.02	6.02	0.97574	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01500	-1.1339	10	0.40728	T	0.16	.	18.3103	0.90197	0.0:0.0:1.0:0.0	.	264;272	Q495Y5;P58872	.;RHBL3_HUMAN	T	272;264;174	ENSP00000269051:A272T;ENSP00000442092:A264T;ENSP00000466508:A174T	ENSP00000269051:A272T	A	+	1	0	RHBDL3	27656505	1.000000	0.71417	0.440000	0.26846	0.684000	0.39900	8.600000	0.90860	2.857000	0.98124	0.650000	0.86243	GCT		0.577	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		28	64	0	0	0	1	0	28	64				
TMEM61	199964	broad.mit.edu	37	1	55452039	55452039	+	Silent	SNP	G	G	A	rs372167123		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55452039G>A	ENST00000371268.3	+	2	559	c.285G>A	c.(283-285)ggG>ggA	p.G95G	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	95						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GCATCCCAGGGCCACCTCGAT	0.642																																						ENST00000371268.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(283-285)ggG>ggA		transmembrane protein 61		G		0,4406		0,0,2203	109.0	111.0	111.0		285	2.8	0.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM61	NM_182532.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		95/211	55452039	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	199964					integral to membrane		g.chr1:55452039G>A	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.285G>A	1.37:g.55452039G>A						RP11-12C17.2_ENST00000436960.1_RNA	p.G95G	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN			2	559	+			95						Silent	SNP	ENST00000371268.3	37	c.285G>A	CCDS601.1																																																																																				0.642	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		59	96	0	0	0	1	0	59	96				
PCSK5	5125	broad.mit.edu	37	9	78973785	78973785	+	Missense_Mutation	SNP	G	G	A	rs560179246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78973785G>A	ENST00000545128.1	+	37	6068	c.5530G>A	c.(5530-5532)Gat>Aat	p.D1844N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1844	AC 2. {ECO:0000250}.|Asp-rich.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTGGATGACGATGACATAGA	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20023	0.0		0.0	False		,,,				2504	0.0					ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5530-5532)Gat>Aat		proprotein convertase subtilisin/kexin type 5							135.0	123.0	126.0					9																	78973785		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78973785G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5530G>A	9.37:g.78973785G>A	ENSP00000446280:p.Asp1844Asn						p.D1844N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			37	6068	+			0					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.5530G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605767	0.46527	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.50813	0.73;1.57	5.56	4.65	0.58169	.	0.686338	0.14138	N	0.338917	T	0.55178	0.1904	L	0.47716	1.5	0.37798	D	0.927618	.	.	.	.	.	.	T	0.59139	-0.7510	8	0.56958	D	0.05	-2.1331	14.5052	0.67748	0.0723:0.0:0.9277:0.0	.	.	.	.	N	1844;1574;1544	ENSP00000446280:D1844N;ENSP00000411654:D1544N	ENSP00000365945:D1574N	D	+	1	0	PCSK5	78163605	1.000000	0.71417	0.012000	0.15200	0.220000	0.24768	6.215000	0.72206	1.327000	0.45338	0.561000	0.74099	GAT		0.493	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	40	0	0	0	1	0	14	40				
USP7	7874	broad.mit.edu	37	16	8998370	8998370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8998370C>A	ENST00000344836.4	-	15	1824	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	USP7_ENST00000535863.1_Missense_Mutation_p.E443D|USP7_ENST00000381886.4_Missense_Mutation_p.E526D	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	542					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTGTAATCGCTCCACCAACT	0.547																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1624-1626)gaG>gaT		ubiquitin specific peptidase 7 (herpes virus-associated)							117.0	97.0	104.0					16																	8998370		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8998370C>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1626G>T	16.37:g.8998370C>A	ENSP00000343535:p.Glu542Asp					USP7_ENST00000381886.4_Missense_Mutation_p.E526D|USP7_ENST00000535863.1_Missense_Mutation_p.E443D	p.E542D	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			15	1824	-			542					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1626G>T	CCDS32385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.26|10.26	1.301135|1.301135	0.23650|0.23650	.|.	.|.	ENSG00000187555|ENSG00000187555	ENST00000542333|ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T|T;T	0.06687|0.05580	3.27|3.42;3.42	5.2|5.2	-5.53|-5.53	0.02552|0.02552	.|Peptidase C19  domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.03915|0.03915	0.0110|0.0110	L|L	0.28274|0.28274	0.84|0.84	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.004;0.004	T|T	0.37731|0.37731	-0.9693|-0.9693	7|10	0.13108|0.20046	T|T	0.6|0.44	.|.	13.963|13.963	0.64193|0.64193	0.0:0.5064:0.0:0.4936|0.0:0.5064:0.0:0.4936	.|.	.|542;526	.|Q93009;B7Z815	.|UBP7_HUMAN;.	S|D	471|542;550;443;443	ENSP00000439272:A471S|ENSP00000343535:E542D;ENSP00000443646:E443D	ENSP00000439272:A471S|ENSP00000343535:E542D	A|E	-|-	1|3	0|2	USP7|USP7	8905871|8905871	0.946000|0.946000	0.32159|0.32159	0.776000|0.776000	0.31678|0.31678	0.979000|0.979000	0.70002|0.70002	0.038000|0.038000	0.13862|0.13862	-0.887000|-0.887000	0.03961|0.03961	0.455000|0.455000	0.32223|0.32223	GCG|GAG		0.547	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			37	31	1	0	1.67305e-13	1	2.12277e-13	37	31				
ARID3C	138715	broad.mit.edu	37	9	34622473	34622473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34622473C>A	ENST00000378909.2	-	5	1011	c.919G>T	c.(919-921)Gga>Tga	p.G307*	DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	307	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGTGTAGGTCCCAGTGCCAGG	0.577																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(919-921)Gga>Tga		AT rich interactive domain 3C (BRIGHT-like)							68.0	72.0	71.0					9																	34622473		2203	4300	6503	SO:0001587	stop_gained	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622473C>A		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.919G>T	9.37:g.34622473C>A	ENSP00000368189:p.Gly307*						p.G307*	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	5	1011	-	all_epithelial(49;0.102)		307			Pro-rich.|REKLES.			Nonsense_Mutation	SNP	ENST00000378909.2	37	c.919G>T	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738489	0.69304	.	.	ENSG00000205143	ENST00000378909	.	.	.	5.02	5.02	0.67125	.	0.150986	0.31323	N	0.007859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-3.541	17.5013	0.87732	0.0:1.0:0.0:0.0	.	.	.	.	X	307	.	ENSP00000368189:G307X	G	-	1	0	ARID3C	34612473	1.000000	0.71417	0.483000	0.27378	0.407000	0.30961	5.152000	0.64882	2.603000	0.88011	0.448000	0.29417	GGA		0.577	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		7	48	1	0	5.18039e-06	1	5.91835e-06	7	48				
P4HA2	8974	broad.mit.edu	37	5	131554263	131554263	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131554263C>T	ENST00000401867.1	-	3	625	c.57G>A	c.(55-57)gtG>gtA	p.V19V	P4HA2_ENST00000379104.2_Silent_p.V19V|P4HA2_ENST00000360568.3_Silent_p.V19V|P4HA2_ENST00000379100.2_Silent_p.V19V|P4HA2_ENST00000166534.4_Silent_p.V19V|P4HA2_ENST00000379086.1_Silent_p.V19V			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	19					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATTCGGCCTGCACACAGCTCA	0.527																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(55-57)gtG>gtA		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						152.0	109.0	124.0					5																	131554263		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131554263C>T	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.57G>A	5.37:g.131554263C>T						P4HA2_ENST00000379086.1_Silent_p.V19V|P4HA2_ENST00000379100.2_Silent_p.V19V|P4HA2_ENST00000360568.3_Silent_p.V19V|P4HA2_ENST00000379104.2_Silent_p.V19V|P4HA2_ENST00000166534.4_Silent_p.V19V	p.V19V			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	625	-		all_cancers(142;0.103)|Breast(839;0.198)	19					D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.57G>A	CCDS4151.1																																																																																				0.527	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		4	13	0	0	0	1	0	4	13				
KDM6B	23135	broad.mit.edu	37	17	7750057	7750057	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7750057A>G	ENST00000448097.2	+	8	1041	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	KDM6B_ENST00000254846.5_Splice_Site_p.Q237R			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	237	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AACTCTGAACAGGTGTGGGTA	0.622																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.e8+1		lysine (K)-specific demethylase 6B							80.0	76.0	77.0					17																	7750057		2203	4300	6503	SO:0001630	splice_region_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750057A>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.711+1A>G	17.37:g.7750057A>G						KDM6B_ENST00000448097.2_Splice_Site_p.Q237_splice	p.Q237_splice	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			8	1099	+			237			Pro-rich.		C9IZ40|Q96G33	Splice_Site	SNP	ENST00000448097.2	37	c.711_splice		.	.	.	.	.	.	.	.	.	.	A	9.733	1.162749	0.21538	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.38401	1.14;1.15	4.84	4.84	0.62591	.	0.135223	0.32952	N	0.005446	T	0.29321	0.0730	N	0.08118	0	0.34574	D	0.713722	D	0.56968	0.978	P	0.53861	0.736	T	0.36212	-0.9757	10	0.25751	T	0.34	-16.6715	12.6935	0.56990	1.0:0.0:0.0:0.0	.	237	O15054-1	.	R	237	ENSP00000254846:Q237R;ENSP00000412513:Q237R	ENSP00000254846:Q237R	Q	+	2	0	KDM6B	7690782	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.283000	0.51701	2.171000	0.68590	0.459000	0.35465	CAG		0.622	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	Missense_Mutation	4	67	0	0	0	1	0	4	67				
PCNXL3	399909	broad.mit.edu	37	11	65396306	65396306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65396306C>T	ENST00000355703.3	+	24	4367	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1276						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCATGCTGTTCGTCCAGGCCC	0.667																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3826-3828)ttC>ttT		pecanex-like 3 (Drosophila)							32.0	35.0	34.0					11																	65396306		2114	4210	6324	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65396306C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3828C>T	11.37:g.65396306C>T							p.F1276F	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			24	4367	+			1276					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.3828C>T	CCDS44650.1																																																																																				0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		5	14	0	0	0	1	0	5	14				
PPP2R5E	5529	broad.mit.edu	37	14	63862003	63862003	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63862003C>T	ENST00000337537.3	-	7	1283	c.681G>A	c.(679-681)agG>agA	p.R227R	PPP2R5E_ENST00000555899.1_Splice_Site_p.R227R|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.R151R	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	227					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CATAAACAAACCTGAGAGAAG	0.453																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.e7-1		protein phosphatase 2, regulatory subunit B', epsilon isoform							78.0	81.0	80.0					14																	63862003		2202	4300	6502	SO:0001630	splice_region_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63862003C>T	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.681-1G>A	14.37:g.63862003C>T						PPP2R5E_ENST00000422769.2_Splice_Site_p.R151_splice|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.R227_splice	p.R227_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	7	1283	-			227					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Splice_Site	SNP	ENST00000337537.3	37	c.680_splice	CCDS9758.1																																																																																				0.453	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	Silent	25	50	0	0	0	1	0	25	50				
EHMT1	79813	broad.mit.edu	37	9	140669648	140669648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140669648C>T	ENST00000460843.1	+	11	1762	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	EHMT1_ENST00000462484.1_Missense_Mutation_p.R579W|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R548W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	579					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGAAGACCACCGGGGCCGCAT	0.617																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1735-1737)Cgg>Tgg		euchromatic histone-lysine N-methyltransferase 1							100.0	74.0	83.0					9																	140669648		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140669648C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1735C>T	9.37:g.140669648C>T	ENSP00000417980:p.Arg579Trp					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R548W|EHMT1_ENST00000462484.1_Missense_Mutation_p.R579W	p.R579W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	11	1762	+	all_cancers(76;0.164)		579					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.1735C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151432	0.78001	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.73469	1.26;0.47;-0.75	5.34	3.31	0.37934	.	0.049321	0.85682	D	0.000000	D	0.86167	0.5868	M	0.77103	2.36	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.994	D	0.88054	0.2789	10	0.87932	D	0	.	17.0999	0.86645	0.1977:0.8023:0.0:0.0	.	579;548;579	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	W	548;548;579;579	ENSP00000334476:R548W;ENSP00000417328:R579W;ENSP00000417980:R579W	ENSP00000334476:R548W	R	+	1	2	EHMT1	139789469	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.327000	0.52045	0.636000	0.30508	0.491000	0.48974	CGG		0.617	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		9	23	0	0	0	1	0	9	23				
RBM6	10180	broad.mit.edu	37	3	50005101	50005101	+	Silent	SNP	G	G	A	rs182256104	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005101G>A	ENST00000266022.4	+	3	502	c.243G>A	c.(241-243)ccG>ccA	p.P81P	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	81					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGACGGACCGCATGGTGACT	0.507																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(241-243)ccG>ccA		RNA binding motif protein 6							90.0	97.0	94.0					3																	50005101		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005101G>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.243G>A	3.37:g.50005101G>A						RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	p.P81P	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	502	+			81					O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.243G>A	CCDS2809.1																																																																																				0.507	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		56	65	0	0	0	1	0	56	65				
BTBD16	118663	broad.mit.edu	37	10	124090749	124090749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124090749G>T	ENST00000260723.4	+	12	1313	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	BTBD16_ENST00000368994.2_Missense_Mutation_p.Q355H	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	354										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGCTCGACCAGGTTACAGTCA	0.463																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(1063-1065)caG>caT		BTB (POZ) domain containing 16							98.0	87.0	91.0					10																	124090749		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124090749G>T	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1062G>T	10.37:g.124090749G>T	ENSP00000260723:p.Gln354His					BTBD16_ENST00000260723.4_Missense_Mutation_p.Q354H	p.Q355H			Q32M84	BTBDG_HUMAN			12	1316	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	354					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1065G>T	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	6.618	0.482510	0.12581	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.18016	2.24;2.24	5.98	1.86	0.25419	.	0.281347	0.29791	N	0.011184	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B;B	0.27117	0.168;0.168	B;B	0.30495	0.116;0.086	T	0.28364	-1.0046	10	0.45353	T	0.12	-24.1955	8.4603	0.32923	0.0:0.2796:0.432:0.2884	.	355;354	Q32M84-2;Q32M84	.;BTBDG_HUMAN	H	354;355	ENSP00000260723:Q354H;ENSP00000357990:Q355H	ENSP00000260723:Q354H	Q	+	3	2	BTBD16	124080739	0.853000	0.29707	0.002000	0.10522	0.032000	0.12392	0.267000	0.18552	0.080000	0.16959	0.655000	0.94253	CAG		0.463	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		5	61	1	0	0.014758	1	0.0152625	5	61				
CEP192	55125	broad.mit.edu	37	18	13103524	13103524	+	Silent	SNP	C	C	T	rs573613375	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103524C>T	ENST00000325971.8	+	37	6693	c.5100C>T	c.(5098-5100)ctC>ctT	p.L1700L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Silent_p.L2296L|CEP192_ENST00000430049.2_Silent_p.L1821L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1700					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCTAGAACTCGAGAATCATG	0.433																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6886-6888)ctC>ctT		centrosomal protein 192kDa							177.0	151.0	160.0					18																	13103524		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13103524C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5100C>T	18.37:g.13103524C>T						CEP192_ENST00000325971.8_Silent_p.L1700L|CEP192_ENST00000430049.2_Silent_p.L1821L|CEP192_ENST00000540847.2_3'UTR	p.L2296L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			39	6968	+			1891					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.6888C>T																																																																																					0.433	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	77	0	0	0	1	0	8	77				
WTAP	9589	broad.mit.edu	37	6	160176190	160176190	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176190C>A	ENST00000358372.4	+	8	2495	c.738C>A	c.(736-738)gcC>gcA	p.A246A	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	246					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCTCAGGCCTCTGCCCCAA	0.522																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(736-738)gcC>gcA		Wilms tumor 1 associated protein							55.0	48.0	51.0					6																	160176190		2203	4300	6503	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176190C>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.738C>A	6.37:g.160176190C>A						SOD2_ENST00000546087.1_Intron	p.A246A	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2495	+		Breast(66;0.000776)|Ovarian(120;0.0303)	246					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.738C>A	CCDS5266.1																																																																																				0.522	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		4	25	1	0	0.150653	1	0.152692	4	25				
THG1L	54974	broad.mit.edu	37	5	157159948	157159948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157159948G>T	ENST00000231198.7	+	2	508	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	88					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATGTGCGCAGACTGTGATGG	0.453																																						ENST00000231198.7																			0				NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13						c.(262-264)caG>caT		tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)							171.0	152.0	158.0					5																	157159948		2203	4300	6503	SO:0001583	missense	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157159948G>T	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.264G>T	5.37:g.157159948G>T	ENSP00000231198:p.Gln88His						p.Q88H	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	508	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	88					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	ENST00000231198.7	37	c.264G>T	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318219	0.40996	.	.	ENSG00000113272	ENST00000231198	T	0.44881	0.91	5.85	4.97	0.65823	.	0.161867	0.64402	D	0.000017	T	0.35913	0.0948	L	0.45698	1.435	0.46654	D	0.999145	B	0.28667	0.219	B	0.23275	0.045	T	0.11518	-1.0584	10	0.34782	T	0.22	-17.0765	13.7206	0.62725	0.0754:0.0:0.9246:0.0	.	88	Q9NWX6	THG1_HUMAN	H	88	ENSP00000231198:Q88H	ENSP00000231198:Q88H	Q	+	3	2	THG1L	157092526	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.980000	0.40618	1.440000	0.47531	0.561000	0.74099	CAG		0.453	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		16	102	1	0	1.15088e-07	1	1.35723e-07	16	102				
TOP2B	7155	broad.mit.edu	37	3	25686851	25686851	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25686851T>C	ENST00000264331.4	-	2	179	c.180A>G	c.(178-180)caA>caG	p.Q60Q	TOP2B_ENST00000435706.2_Silent_p.Q55Q	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	60					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGTGTTCAAGTTGTGTCTTCT	0.368																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(163-165)caA>caG		topoisomerase (DNA) II beta 180kDa							206.0	189.0	195.0					3																	25686851		1863	4106	5969	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25686851T>C	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.180A>G	3.37:g.25686851T>C						TOP2B_ENST00000264331.4_Silent_p.Q60Q	p.Q55Q			Q02880	TOP2B_HUMAN			2	366	-			60					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.165A>G																																																																																					0.368	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				6	94	0	0	0	1	0	6	94				
ALOX15	246	broad.mit.edu	37	17	4539075	4539075	+	Silent	SNP	C	C	T	rs142441164	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4539075C>T	ENST00000570836.1	-	9	1236	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	ALOX15_ENST00000574640.1_Silent_p.P341P|ALOX15_ENST00000545513.1_Silent_p.P402P|ALOX15_ENST00000293761.3_Silent_p.P380P			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	380	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GATGTATCGACGGCAGGCACC	0.562													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		18846	0.0		0.0	False		,,,				2504	0.0					ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1138-1140)ccG>ccA		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						103.0	91.0	95.0					17																	4539075		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4539075C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1140G>A	17.37:g.4539075C>T						ALOX15_ENST00000574640.1_Silent_p.P341P|ALOX15_ENST00000293761.3_Silent_p.P380P|ALOX15_ENST00000545513.1_Silent_p.P402P	p.P380P			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	9	1236	-			380			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1140G>A	CCDS11049.1																																																																																				0.562	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			18	27	0	0	0	1	0	18	27				
RBM17	84991	broad.mit.edu	37	10	6152028	6152028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6152028C>T	ENST00000446108.1	+	7	1286	c.642C>T	c.(640-642)taC>taT	p.Y214Y	RBM17_ENST00000379888.4_Silent_p.Y214Y	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	214				Y -> H (in Ref. 1; AAH09064). {ECO:0000305}.	alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCCCAGTGTACGAGGAACAAG	0.453																																						ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(640-642)taC>taT		RNA binding motif protein 17							123.0	108.0	113.0					10																	6152028		2203	4300	6503	SO:0001819	synonymous_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6152028C>T	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.642C>T	10.37:g.6152028C>T						RBM17_ENST00000379888.4_Silent_p.Y214Y	p.Y214Y	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			7	1286	+			214	Y -> H (in Ref. 1; AAH09064).				Q96GY6	Silent	SNP	ENST00000446108.1	37	c.642C>T	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	1.469	-0.560384	0.03939	.	.	ENSG00000134453	ENST00000447032	.	.	.	5.21	-0.899	0.10547	.	.	.	.	.	T	0.55924	0.1951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51092	-0.8749	4	.	.	.	-11.4108	9.9862	0.41843	0.0:0.3274:0.0:0.6726	.	.	.	.	M	121	.	.	T	+	2	0	RBM17	6192034	0.875000	0.30112	0.789000	0.31954	0.132000	0.20833	-0.044000	0.12023	-0.099000	0.12263	-0.254000	0.11334	ACG		0.453	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		31	54	0	0	0	1	0	31	54				
YIPF6	286451	broad.mit.edu	37	X	67741284	67741284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67741284G>A	ENST00000462683.1	+	5	1123	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	YIPF6_ENST00000374622.2_Missense_Mutation_p.V84I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	127					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTTTGTCATTGTCTGGTTTGG	0.418																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(379-381)Gtc>Atc		Yip1 domain family, member 6							169.0	145.0	153.0					X																	67741284		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67741284G>A	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.379G>A	X.37:g.67741284G>A	ENSP00000417573:p.Val127Ile					YIPF6_ENST00000374622.2_Missense_Mutation_p.V84I	p.V127I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			5	1123	+			127					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.379G>A	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299643	0.23650	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.44881	0.91;0.91;0.91	5.3	1.19	0.21007	Yip1 domain (1);	0.309039	0.35615	N	0.003093	T	0.18964	0.0455	N	0.10629	0.01	0.29806	N	0.832029	B;B	0.12630	0.002;0.006	B;B	0.17979	0.019;0.02	T	0.17258	-1.0375	10	0.20519	T	0.43	-11.0747	7.7331	0.28797	0.542:0.0:0.458:0.0	.	84;127	G5E997;Q96EC8	.;YIPF6_HUMAN	I	127;84;84	ENSP00000417573:V127I;ENSP00000401799:V84I;ENSP00000363751:V84I	ENSP00000363751:V84I	V	+	1	0	YIPF6	67658009	0.993000	0.37304	0.994000	0.49952	0.971000	0.66376	0.397000	0.20883	0.154000	0.19237	0.600000	0.82982	GTC		0.418	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		9	83	0	0	0	1	0	9	83				
ORC1	4998	broad.mit.edu	37	1	52863359	52863359	+	Missense_Mutation	SNP	G	G	A	rs587780413		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52863359G>A	ENST00000371568.3	-	4	618	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ORC1_ENST00000371566.1_Missense_Mutation_p.R134W	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	134	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCACCTACCCGAACAAGGCCA	0.493																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(400-402)Cgg>Tgg		origin recognition complex, subunit 1							135.0	110.0	119.0					1																	52863359		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52863359G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.400C>T	1.37:g.52863359G>A	ENSP00000360623:p.Arg134Trp					ORC1_ENST00000371566.1_Missense_Mutation_p.R134W	p.R134W	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			4	618	-			134			BAH.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.400C>T	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555845	0.65425	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.87029	-2.2;-2.2	5.24	2.17	0.27698	Bromo adjacent homology (BAH) domain (3);	0.550869	0.21214	N	0.078248	D	0.86990	0.6066	L	0.44542	1.39	0.20764	N	0.999858	D;D	0.76494	0.998;0.999	P;P	0.56916	0.809;0.809	T	0.78653	-0.2120	10	0.66056	D	0.02	0.0381	9.0671	0.36469	0.0:0.246:0.3755:0.3785	.	134;134	B7Z8H0;Q13415	.;ORC1_HUMAN	W	134	ENSP00000360623:R134W;ENSP00000360621:R134W	ENSP00000360621:R134W	R	-	1	2	ORC1	52635947	0.027000	0.19231	0.941000	0.38009	0.762000	0.43233	0.249000	0.18216	0.167000	0.19631	0.460000	0.39030	CGG		0.493	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		4	47	0	0	0	1	0	4	47				
DRC1	92749	broad.mit.edu	37	2	26672923	26672923	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26672923C>T	ENST00000288710.2	+	12	1643	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	523					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGAATGAATGCTATCTGCTGA	0.607																																						ENST00000288710.2																			0											c.(1567-1569)tgC>tgT		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							68.0	60.0	63.0					2																	26672923		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26672923C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1569C>T	2.37:g.26672923C>T							p.C523C	NM_145038.2	NP_659475.2					12	1643	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1569C>T	CCDS1723.1																																																																																				0.607	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		5	9	0	0	0	1	0	5	9				
RAPGEF6	51735	broad.mit.edu	37	5	130799818	130799818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130799818G>A	ENST00000509018.1	-	18	2601	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S799F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S804F|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S849F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S799F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S514F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	799	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAGTAACAGAAACTTCACA	0.383																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2395-2397)tCt>tTt		Rap guanine nucleotide exchange factor (GEF) 6							112.0	104.0	107.0					5																	130799818		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130799818G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2396C>T	5.37:g.130799818G>A	ENSP00000421684:p.Ser799Phe					RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S804F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S799F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S514F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S799F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S849F	p.S799F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	18	2601	-			799			Ras-associating.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2396C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152590	0.94645	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.79	5.79	0.91817	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.85130	0.995;0.991;0.983;0.992;0.997;0.993;0.997	T	0.56189	-0.8020	10	0.87932	D	0	.	20.0221	0.97508	0.0:0.0:1.0:0.0	.	799;799;799;514;849;804;799	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	F	799;804;799;799;804;514;799;799;849	ENSP00000421684:S799F;ENSP00000309298:S804F;ENSP00000426081:S799F;ENSP00000296859:S799F;ENSP00000426910:S514F;ENSP00000311419:S799F;ENSP00000425389:S799F;ENSP00000426948:S849F	ENSP00000426948:S849F	S	-	2	0	RAPGEF6;FNIP1	130827717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.732000	0.93576	0.650000	0.86243	TCT		0.383	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		20	46	0	0	0	1	0	20	46				
SRBD1	55133	broad.mit.edu	37	2	45826817	45826817	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45826817C>A	ENST00000263736.4	-	4	481	c.419G>T	c.(418-420)aGc>aTc	p.S140I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	140					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GCTGGCTTTGCTGGTTTCTTC	0.453																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(418-420)aGc>aTc		S1 RNA binding domain 1							390.0	342.0	358.0					2																	45826817		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45826817C>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.419G>T	2.37:g.45826817C>A	ENSP00000263736:p.Ser140Ile						p.S140I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		4	481	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	140					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.419G>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	6.373	0.436929	0.12104	.	.	ENSG00000068784	ENST00000263736	T	0.23754	1.89	5.85	-1.49	0.08718	.	1.041230	0.07520	N	0.910454	T	0.12732	0.0309	N	0.14661	0.345	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	10	0.62326	D	0.03	.	2.1603	0.03823	0.1235:0.3555:0.1226:0.3984	.	140	Q8N5C6	SRBD1_HUMAN	I	140	ENSP00000263736:S140I	ENSP00000263736:S140I	S	-	2	0	SRBD1	45680321	0.000000	0.05858	0.002000	0.10522	0.300000	0.27592	-0.412000	0.07132	-0.640000	0.05495	0.585000	0.79938	AGC		0.453	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		7	277	1	0	0.0581538	1	0.0593651	7	277				
HEXIM1	10614	broad.mit.edu	37	17	43227297	43227297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43227297A>G	ENST00000332499.2	+	1	2614	c.740A>G	c.(739-741)gAg>gGg	p.E247G	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	247	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAAGGGGGTGAGGAGGATGGG	0.637																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(739-741)gAg>gGg		hexamethylene bis-acetamide inducible 1							39.0	44.0	42.0					17																	43227297		2203	4300	6503	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227297A>G	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.740A>G	17.37:g.43227297A>G	ENSP00000328773:p.Glu247Gly						p.E247G	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2614	+			247			Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.740A>G	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715363	0.89112	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	.	0.275955	0.32147	N	0.006515	T	0.64349	0.2590	L	0.44542	1.39	0.58432	D	0.999994	D	0.63880	0.993	P	0.60789	0.879	T	0.63677	-0.6583	9	0.39692	T	0.17	-19.7985	13.0662	0.59034	1.0:0.0:0.0:0.0	.	247	O94992	HEXI1_HUMAN	G	247	.	ENSP00000328773:E247G	E	+	2	0	HEXIM1	40583080	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.897000	0.63231	1.776000	0.52262	0.459000	0.35465	GAG		0.637	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		4	37	0	0	0	1	0	4	37				
NHLRC2	374354	broad.mit.edu	37	10	115639428	115639428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115639428G>T	ENST00000369301.3	+	4	1095	c.883G>T	c.(883-885)Gac>Tac	p.D295Y		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	295										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATATGTGGCAGACACTGAAAA	0.294																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(883-885)Gac>Tac		NHL repeat containing 2							38.0	39.0	39.0					10																	115639428		2202	4294	6496	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115639428G>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.883G>T	10.37:g.115639428G>T	ENSP00000358307:p.Asp295Tyr						p.D295Y	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	4	1095	+			295					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.883G>T	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571432	0.86542	.	.	ENSG00000196865	ENST00000369301	D	0.91011	-2.77	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99671	1.0996	10	0.87932	D	0	-20.8271	17.6326	0.88113	0.0:0.0:1.0:0.0	.	295	Q8NBF2	NHLC2_HUMAN	Y	295	ENSP00000358307:D295Y	ENSP00000358307:D295Y	D	+	1	0	NHLRC2	115629418	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.748000	0.98867	2.599000	0.87857	0.305000	0.20034	GAC		0.294	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		4	41	1	0	0.00909568	1	0.00947522	4	41				
H6PD	9563	broad.mit.edu	37	1	9322333	9322333	+	Missense_Mutation	SNP	C	C	T	rs375504656	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9322333C>T	ENST00000377403.2	+	4	1263	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	H6PD_ENST00000602477.1_Missense_Mutation_p.R332C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	321	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGCAGGTGCGCAGAGAGCT	0.677													C|||	3	0.000599042	0.0	0.0	5008	,	,		17980	0.002		0.0	False		,,,				2504	0.001					ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(961-963)Cgc>Tgc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						37.0	37.0	37.0					1																	9322333		2202	4300	6502	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9322333C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.961C>T	1.37:g.9322333C>T	ENSP00000366620:p.Arg321Cys					H6PD_ENST00000602477.1_Missense_Mutation_p.R332C	p.R321C	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	4	1263	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	321			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.961C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344485	0.82022	.	.	ENSG00000049239	ENST00000377403	D	0.99816	-6.91	5.24	5.24	0.73138	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.122447	0.64402	D	0.000010	D	0.99768	0.9905	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	D	0.97098	0.9795	10	0.62326	D	0.03	-42.199	12.8604	0.57910	0.1628:0.8372:0.0:0.0	.	321	O95479	G6PE_HUMAN	C	321	ENSP00000366620:R321C	ENSP00000366620:R321C	R	+	1	0	H6PD	9244920	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.442000	0.52900	2.455000	0.83008	0.555000	0.69702	CGC		0.677	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		5	3	0	0	0	1	0	5	3				
TGM6	343641	broad.mit.edu	37	20	2411126	2411126	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2411126G>A	ENST00000202625.2	+	11	1774	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	TGM6_ENST00000381423.1_Silent_p.K571K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	571					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTTACTCTAAGTATAAAGAAG	0.458																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1711-1713)aaG>aaA		transglutaminase 6	L-Glutamine(DB00130)						94.0	88.0	90.0					20																	2411126		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411126G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1713G>A	20.37:g.2411126G>A						TGM6_ENST00000381423.1_Silent_p.K571K	p.K571K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			11	1774	+			571					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.1713G>A	CCDS13025.1																																																																																				0.458	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		12	94	0	0	0	1	0	12	94				
RABEP2	79874	broad.mit.edu	37	16	28925767	28925767	+	Silent	SNP	G	G	A	rs372609269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925767G>A	ENST00000358201.4	-	5	1272	c.684C>T	c.(682-684)tgC>tgT	p.C228C	RABEP2_ENST00000357573.6_Silent_p.C228C|RABEP2_ENST00000561803.1_5'Flank|RABEP2_ENST00000544477.1_Silent_p.C157C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	228					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTGTCATCGCAGTTGTGAG	0.677																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(682-684)tgC>tgT		rabaptin, RAB GTPase binding effector protein 2							23.0	29.0	27.0					16																	28925767		2035	4200	6235	SO:0001819	synonymous_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925767G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.684C>T	16.37:g.28925767G>A						RABEP2_ENST00000544477.1_Silent_p.C157C|RABEP2_ENST00000357573.6_Silent_p.C228C	p.C228C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			5	1272	-			228						Silent	SNP	ENST00000358201.4	37	c.684C>T	CCDS42140.1																																																																																				0.677	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		13	19	0	0	0	1	0	13	19				
PGF	5228	broad.mit.edu	37	14	75416192	75416192	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75416192G>A	ENST00000405431.2	-	3	182	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PGF_ENST00000555567.1_Silent_p.V61V|PGF_ENST00000238607.6_Silent_p.V60V|PGF_ENST00000553716.1_Silent_p.V61V			P49763	PLGF_HUMAN	placental growth factor	61					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	ACTCGGACACGACGTCCACCA	0.657																																					GBM(127;389 2301 5452 48547)	ENST00000555567.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(181-183)gtC>gtT		placental growth factor							41.0	34.0	36.0					14																	75416192		2203	4300	6503	SO:0001819	synonymous_variant	5228				angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding	g.chr14:75416192G>A	S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.183C>T	14.37:g.75416192G>A						PGF_ENST00000405431.2_Silent_p.V61V|PGF_ENST00000553716.1_Silent_p.V61V|PGF_ENST00000238607.6_Silent_p.V60V	p.V61V	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00668)	3	724	-			61					Q07101|Q9BV78|Q9Y6S8	Silent	SNP	ENST00000405431.2	37	c.183C>T	CCDS9835.1																																																																																				0.657	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632		11	17	0	0	0	1	0	11	17				
TNPO1	3842	broad.mit.edu	37	5	72171523	72171523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72171523C>T	ENST00000337273.5	+	8	1186	c.760C>T	c.(760-762)Cga>Tga	p.R254*	MIR4804_ENST00000581683.1_RNA|TNPO1_ENST00000506351.2_Nonsense_Mutation_p.R246*|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.R204*|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.R204*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	254					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCTCGAAGTTCGAATGGATCG	0.408																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(760-762)Cga>Tga		transportin 1							122.0	121.0	121.0					5																	72171523		2203	4300	6503	SO:0001587	stop_gained	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72171523C>T	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.760C>T	5.37:g.72171523C>T	ENSP00000336712:p.Arg254*					TNPO1_ENST00000506351.2_Nonsense_Mutation_p.R246*|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.R204*|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.R204*	p.R254*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	8	1186	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	254					B4DVC6|Q92957|Q92975	Nonsense_Mutation	SNP	ENST00000337273.5	37	c.760C>T	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	36	5.951412	0.97139	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	.	.	.	4.84	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8559	12.31	0.54924	0.308:0.692:0.0:0.0	.	.	.	.	X	254;204;204;246	.	ENSP00000336712:R254X	R	+	1	2	TNPO1	72207279	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	4.439000	0.59968	1.108000	0.41662	0.585000	0.79938	CGA		0.408	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		36	51	0	0	0	1	0	36	51				
HDHD3	81932	broad.mit.edu	37	9	116136318	116136318	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116136318C>A	ENST00000238379.5	-	2	1214	c.317G>T	c.(316-318)aGc>aTc	p.S106I	HDHD3_ENST00000374180.3_Missense_Mutation_p.S106I|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	106						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GCAGGGGTGGCTGAAGTCTTT	0.602																																						ENST00000238379.5																			0				large_intestine(2)|liver(1)	3						c.(316-318)aGc>aTc		haloacid dehalogenase-like hydrolase domain containing 3							79.0	88.0	85.0					9																	116136318		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136318C>A	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.317G>T	9.37:g.116136318C>A	ENSP00000238379:p.Ser106Ile					HDHD3_ENST00000374180.3_Missense_Mutation_p.S106I|HDHD3_ENST00000485934.1_5'UTR	p.S106I	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN			2	1214	-			106					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.317G>T	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658379	0.67586	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.05580	3.42;3.42	5.86	3.99	0.46301	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.298280	0.43579	D	0.000547	T	0.11836	0.0288	M	0.75777	2.31	0.37551	D	0.918685	D	0.62365	0.991	P	0.46917	0.531	T	0.10823	-1.0613	10	0.40728	T	0.16	-2.4602	9.5655	0.39396	0.0:0.6608:0.2679:0.0713	.	106	Q9BSH5	HDHD3_HUMAN	I	106	ENSP00000238379:S106I;ENSP00000363295:S106I	ENSP00000238379:S106I	S	-	2	0	HDHD3	115176139	1.000000	0.71417	0.919000	0.36401	0.749000	0.42624	4.101000	0.57769	0.792000	0.33850	0.655000	0.94253	AGC		0.602	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		15	91	1	0	1.15088e-07	1	1.35723e-07	15	91				
OXR1	55074	broad.mit.edu	37	8	107763107	107763107	+	Missense_Mutation	SNP	C	C	T	rs200091052		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107763107C>T	ENST00000442977.2	+	16	2662	c.2563C>T	c.(2563-2565)Cgt>Tgt	p.R855C	OXR1_ENST00000517566.2_Missense_Mutation_p.R854C|OXR1_ENST00000521592.1_Missense_Mutation_p.R100C|OXR1_ENST00000531443.1_Missense_Mutation_p.R827C|OXR1_ENST00000297447.6_Missense_Mutation_p.R224C|OXR1_ENST00000449762.2_Missense_Mutation_p.R197C|OXR1_ENST00000452423.2_Missense_Mutation_p.R275C|OXR1_ENST00000445937.1_Missense_Mutation_p.R827C|OXR1_ENST00000312046.6_Missense_Mutation_p.R820C	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	855					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTTTGGGAATCGTACACTTTC	0.363																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(2479-2481)Cgt>Tgt		oxidation resistance 1							81.0	84.0	83.0					8																	107763107		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107763107C>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2563C>T	8.37:g.107763107C>T	ENSP00000405424:p.Arg855Cys					OXR1_ENST00000312046.6_Missense_Mutation_p.R820C|OXR1_ENST00000297447.6_Missense_Mutation_p.R224C|OXR1_ENST00000452423.2_Missense_Mutation_p.R275C|OXR1_ENST00000442977.2_Missense_Mutation_p.R855C|OXR1_ENST00000517566.2_Missense_Mutation_p.R854C|OXR1_ENST00000531443.1_Missense_Mutation_p.R827C|OXR1_ENST00000521592.1_Missense_Mutation_p.R100C|OXR1_ENST00000449762.2_Missense_Mutation_p.R197C	p.R827C	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		16	2740	+			855			TLD.		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.2479C>T	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717672	0.30413	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046;ENST00000449762;ENST00000297447;ENST00000521592	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.59	5.59	0.84812	TLDc (2);	0.294066	0.43919	D	0.000512	T	0.31167	0.0788	N	0.21142	0.635	0.38433	D	0.946485	B;B;B;B;B;B	0.14012	0.001;0.009;0.004;0.002;0.001;0.001	B;B;B;B;B;B	0.10450	0.003;0.004;0.005;0.002;0.001;0.003	T	0.12915	-1.0529	10	0.56958	D	0.05	-4.5986	13.1988	0.59754	0.0:0.9271:0.0:0.0729	.	820;855;854;197;224;827	Q8N573-2;Q8N573;D3HIS6;B7Z8N5;Q8N573-4;Q8N573-5	.;OXR1_HUMAN;.;.;.;.	C	827;827;854;275;855;820;197;224;100	ENSP00000402918:R827C;ENSP00000431966:R827C;ENSP00000429205:R854C;ENSP00000395032:R275C;ENSP00000405424:R855C;ENSP00000311026:R820C;ENSP00000408659:R197C;ENSP00000297447:R224C;ENSP00000435104:R100C	ENSP00000297447:R224C	R	+	1	0	OXR1	107832283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.268000	0.51585	2.763000	0.94921	0.655000	0.94253	CGT		0.363	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		27	60	0	0	0	1	0	27	60				
PLXNA2	5362	broad.mit.edu	37	1	208315692	208315692	+	Silent	SNP	G	G	A	rs149871348	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208315692G>A	ENST00000367033.3	-	4	2245	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	496	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGACATGACGTACAGGTAGC	0.512													G|||	16	0.00319489	0.0	0.0043	5008	,	,		20617	0.0		0.0129	False		,,,				2504	0.0					ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1486-1488)taC>taT		plexin A2		G		1,4405	2.1+/-5.4	0,1,2202	93.0	79.0	84.0		1488	-3.3	0.9	1	dbSNP_134	84	28,8572	19.8+/-62.0	0,28,4272	no	coding-synonymous	PLXNA2	NM_025179.3		0,29,6474	AA,AG,GG		0.3256,0.0227,0.223		496/1895	208315692	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315692G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1488C>T	1.37:g.208315692G>A							p.Y496Y	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2245	-			496			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.1488C>T	CCDS31013.1																																																																																				0.512	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		34	36	0	0	0	1	0	34	36				
PTER	9317	broad.mit.edu	37	10	16528435	16528435	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16528435T>G	ENST00000378000.1	+	4	763	c.517T>G	c.(517-519)Tcc>Gcc	p.S173A	PTER_ENST00000298942.3_Missense_Mutation_p.S173A|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000423462.2_Missense_Mutation_p.S173A|PTER_ENST00000535784.2_Missense_Mutation_p.S173A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	173					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AATTGGTTGCTCCTGGCCTTT	0.478																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(517-519)Tcc>Gcc		phosphotriesterase related							110.0	104.0	106.0					10																	16528435		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16528435T>G	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.517T>G	10.37:g.16528435T>G	ENSP00000367239:p.Ser173Ala					PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Missense_Mutation_p.S173A|PTER_ENST00000535784.2_Missense_Mutation_p.S173A|PTER_ENST00000423462.2_Missense_Mutation_p.S173A	p.S173A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			4	763	+			173					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.517T>G	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788492	0.70337	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	6.07	6.07	0.98685	.	0.195184	0.56097	D	0.000034	T	0.70859	0.3272	M	0.93016	3.37	0.46185	D	0.998919	P;P	0.42649	0.746;0.786	P;P	0.51945	0.452;0.685	T	0.75139	-0.3423	10	0.42905	T	0.14	-15.503	16.6277	0.84984	0.0:0.0:0.0:1.0	.	173;173	Q96BW5-2;Q96BW5	.;PTER_HUMAN	A	173	ENSP00000439485:S173A;ENSP00000389535:S173A;ENSP00000367239:S173A;ENSP00000298942:S173A	ENSP00000298942:S173A	S	+	1	0	PTER	16568441	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.383000	0.52471	2.330000	0.79161	0.528000	0.53228	TCC		0.478	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		7	98	0	0	0	1	0	7	98				
RAD1	5810	broad.mit.edu	37	5	34911885	34911885	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911885C>A	ENST00000382038.2	-	4	1759	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C	RAD1_ENST00000341754.4_Missense_Mutation_p.G114C	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	114			G -> D (in dbSNP:rs2308957).		cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAACCATAACCTTGGTAACAC	0.443								Other conserved DNA damage response genes																														ENST00000382038.2																			0				endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10						c.(340-342)Ggt>Tgt	Other conserved DNA damage response genes	RAD1 homolog (S. pombe)							112.0	110.0	110.0					5																	34911885		2203	4300	6503	SO:0001583	missense	5810				DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding	g.chr5:34911885C>A	AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"""exonuclease homolog RAD1"", ""checkpoint control protein HRAD1"", ""cell cycle checkpoint protein Hrad1"", ""Rad1-like DNA damage checkpoint"", ""DNA repair exonuclease REC1"""	603153	"""RAD1 (S. pombe) homolog"", ""RAD1 homolog (S. pombe)"""			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.340G>T	5.37:g.34911885C>A	ENSP00000371469:p.Gly114Cys					RAD1_ENST00000341754.4_Missense_Mutation_p.G114C	p.G114C	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		4	1759	-	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	114		G -> D (in dbSNP:rs2308957).			O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	ENST00000382038.2	37	c.340G>T	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132039	0.94473	.	.	ENSG00000113456	ENST00000382038;ENST00000341754;ENST00000542494	T;T	0.24350	1.86;1.86	5.83	5.83	0.93111	.	0.045125	0.85682	D	0.000000	T	0.62122	0.2402	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68557	-0.5377	10	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	114	O60671	RAD1_HUMAN	C	114;114;78	ENSP00000371469:G114C;ENSP00000340879:G114C	ENSP00000340879:G114C	G	-	1	0	RAD1	34947642	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.428000	0.80296	2.770000	0.95276	0.655000	0.94253	GGT		0.443	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		13	98	1	0	4.3838e-07	1	5.12524e-07	13	98				
NPR2	4882	broad.mit.edu	37	9	35805938	35805938	+	Missense_Mutation	SNP	G	G	A	rs568622084		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35805938G>A	ENST00000342694.2	+	14	2414	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAGCACTTCGCAGTGGTCCT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18766	0.001		0.0	False		,,,				2504	0.0					ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2158-2160)cGc>cAc		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						78.0	81.0	80.0					9																	35805938		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35805938G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2159G>A	9.37:g.35805938G>A	ENSP00000341083:p.Arg720His						p.R720H	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		14	2414	+	all_epithelial(49;0.161)		720			Protein kinase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.2159G>A	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.430103|4.430103	0.83776|0.83776	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000421267|ENST00000342694	.|T	.|0.63096	.|-0.02	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.39544	.|N	.|0.001326	D|D	0.83124|0.83124	0.5186|0.5186	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.68483	.|0.958;0.948	D|D	0.85829|0.85829	0.1390|0.1390	5|10	.|0.72032	.|D	.|0.01	.|.	18.6867|18.6867	0.91567|0.91567	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|720;720	.|P20594-2;P20594	.|.;ANPRB_HUMAN	T|H	67|720	.|ENSP00000341083:R720H	.|ENSP00000341083:R720H	A|R	+|+	1|2	0|0	NPR2|NPR2	35795938|35795938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			40	49	0	0	0	1	0	40	49				
CEP57	9702	broad.mit.edu	37	11	95546134	95546134	+	Nonsense_Mutation	SNP	C	C	T	rs387906977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95546134C>T	ENST00000325542.5	+	3	479	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CEP57_ENST00000541150.1_Nonsense_Mutation_p.R72*|CEP57_ENST00000538658.1_Nonsense_Mutation_p.R81*|CEP57_ENST00000325486.5_Nonsense_Mutation_p.R81*|CEP57_ENST00000537677.1_Nonsense_Mutation_p.R54*|CEP57_ENST00000536587.1_3'UTR	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	81	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATAAGATTCGACGCTTGGA	0.368									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(241-243)Cga>Tga		centrosomal protein 57kDa							86.0	89.0	88.0					11																	95546134		2201	4298	6499	SO:0001587	stop_gained	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95546134C>T	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.241C>T	11.37:g.95546134C>T	ENSP00000317902:p.Arg81*					CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000537677.1_Nonsense_Mutation_p.R54*|CEP57_ENST00000325486.5_Nonsense_Mutation_p.R81*|CEP57_ENST00000538658.1_Nonsense_Mutation_p.R81*|CEP57_ENST00000541150.1_Nonsense_Mutation_p.R72*	p.R81*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			3	479	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	81			centrosome localization domain (CLD) (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Nonsense_Mutation	SNP	ENST00000325542.5	37	c.241C>T	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	C	38	7.019325	0.98006	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	.	.	.	5.98	5.98	0.97165	.	0.084805	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.5381	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	54;81;81;72;54;81;72	.	ENSP00000317487:R81X	R	+	1	2	CEP57	95185782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.882000	0.56160	2.838000	0.97847	0.591000	0.81541	CGA		0.368	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		32	58	0	0	0	1	0	32	58				
AKAP17A	8227	broad.mit.edu	37	X	1712677	1712677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1712677G>A	ENST00000313871.3	+	2	518	c.322G>A	c.(322-324)Gac>Aac	p.D108N	AKAP17A_ENST00000381261.3_Missense_Mutation_p.D108N	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	108	PKA-RI and PKA-RII subunit binding domain.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGGCTTCTCCGACATCCTGAA	0.607																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(322-324)Gac>Aac		A kinase (PRKA) anchor protein 17A							126.0	134.0	131.0					X																	1712677		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712677G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.322G>A	X.37:g.1712677G>A	ENSP00000324827:p.Asp108Asn					AKAP17A_ENST00000381261.3_Missense_Mutation_p.D108N	p.D108N	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	518	+			108			PKA-RI and PKA-RII subunit binding domain.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.322G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	10.95	1.494396	0.26774	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.34667	1.35;1.35	1.96	-0.882	0.10604	.	0.150425	0.42682	U	0.000665	T	0.29061	0.0722	.	.	.	0.09310	N	1	D;D	0.62365	0.988;0.991	P;P	0.48166	0.569;0.487	T	0.32798	-0.9893	9	0.28530	T	0.3	-22.3703	6.2834	0.21019	0.1222:0.1811:0.6967:0.0	.	108;108	Q02040-3;Q02040	.;AK17A_HUMAN	N	108	ENSP00000324827:D108N;ENSP00000370660:D108N	ENSP00000324827:D108N	D	+	1	0	AKAP17A	1672677	1.000000	0.71417	0.000000	0.03702	0.380000	0.30137	7.091000	0.76923	-1.011000	0.03391	0.100000	0.15512	GAC		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		48	88	0	0	0	1	0	48	88				
PTGFRN	5738	broad.mit.edu	37	1	117492104	117492104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492104G>A	ENST00000393203.2	+	4	1270	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	375	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGCCACGTGTCCCTGTG	0.552																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1123-1125)Gtg>Atg		prostaglandin F2 receptor inhibitor							88.0	84.0	85.0					1																	117492104		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117492104G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1123G>A	1.37:g.117492104G>A	ENSP00000376899:p.Val375Met						p.V375M	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	4	1270	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	375			Ig-like C2-type 3.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1123G>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462378	0.84425	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.70282	-0.47	5.57	5.57	0.84162	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.128860	0.53938	D	0.000058	T	0.71525	0.3350	L	0.27053	0.805	0.42849	D	0.994072	D	0.89917	1.0	D	0.80764	0.994	T	0.76397	-0.2974	10	0.87932	D	0	-21.4452	17.0515	0.86520	0.0:0.0:1.0:0.0	.	375	Q9P2B2	FPRP_HUMAN	M	375;234	ENSP00000376899:V375M	ENSP00000376899:V375M	V	+	1	0	PTGFRN	117293627	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.778000	0.75043	2.618000	0.88619	0.561000	0.74099	GTG		0.552	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		36	41	0	0	0	1	0	36	41				
MPP7	143098	broad.mit.edu	37	10	28348654	28348654	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28348654C>A	ENST00000375732.1	-	14	1482	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	MPP7_ENST00000540098.1_Missense_Mutation_p.R408I|MPP7_ENST00000445954.2_Missense_Mutation_p.R283I|MPP7_ENST00000337532.5_Missense_Mutation_p.R408I|MPP7_ENST00000375719.3_Missense_Mutation_p.R408I			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	408	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.R408I(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCCTGGCTTCTTCTTGCTCT	0.338																																						ENST00000337532.5																			1	Substitution - Missense(1)	p.R408I(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1222-1224)aGa>aTa		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							107.0	102.0	104.0					10																	28348654		2203	4299	6502	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28348654C>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1223G>T	10.37:g.28348654C>A	ENSP00000364884:p.Arg408Ile					MPP7_ENST00000375732.1_Missense_Mutation_p.R408I|MPP7_ENST00000540098.1_Missense_Mutation_p.R408I|MPP7_ENST00000445954.2_Missense_Mutation_p.R283I|MPP7_ENST00000375719.3_Missense_Mutation_p.R408I	p.R408I	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			15	1499	-			408			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1223G>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368024	0.82463	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.044816	0.85682	D	0.000000	T	0.78046	0.4222	H	0.97415	4	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.86142	0.1582	10	0.87932	D	0	.	19.4309	0.94765	0.0:1.0:0.0:0.0	.	408	Q5T2T1	MPP7_HUMAN	I	408;408;408;408;169;283	ENSP00000364884:R408I;ENSP00000337907:R408I;ENSP00000438693:R408I;ENSP00000364871:R408I;ENSP00000398319:R169I;ENSP00000405397:R283I	ENSP00000337907:R408I	R	-	2	0	MPP7	28388660	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.659000	0.54489	2.592000	0.87571	0.650000	0.86243	AGA		0.338	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		6	59	1	0	0.000157383	1	0.00017284	6	59				
HPS4	89781	broad.mit.edu	37	22	26868841	26868841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26868841C>A	ENST00000398145.2	-	5	957	c.341G>T	c.(340-342)gGa>gTa	p.G114V	HPS4_ENST00000402105.3_Missense_Mutation_p.G109V|HPS4_ENST00000336873.5_Missense_Mutation_p.G114V|HPS4_ENST00000398141.1_Missense_Mutation_p.G109V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	114					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTAAAGAATCCAACTAGCTG	0.458									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(340-342)gGa>gTa		Hermansky-Pudlak syndrome 4							105.0	107.0	106.0					22																	26868841		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26868841C>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.341G>T	22.37:g.26868841C>A	ENSP00000381213:p.Gly114Val					HPS4_ENST00000336873.5_Missense_Mutation_p.G114V|HPS4_ENST00000398141.1_Missense_Mutation_p.G109V|HPS4_ENST00000402105.3_Missense_Mutation_p.G109V	p.G114V	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			5	957	-			114					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.341G>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151743	0.57151	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.27	5.27	0.74061	.	0.304513	0.36854	N	0.002369	D	0.93716	0.7992	M	0.68317	2.08	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.993	D	0.93941	0.7223	10	0.72032	D	0.01	-24.8907	17.6309	0.88108	0.0:1.0:0.0:0.0	.	114;114;109	Q6ICH6;Q9NQG7;Q9NQG7-3	.;HPS4_HUMAN;.	V	114;109;109;114;114;114	ENSP00000381213:G114V;ENSP00000381210:G109V;ENSP00000384185:G109V;ENSP00000338457:G114V;ENSP00000415081:G114V	ENSP00000325840:G114V	G	-	2	0	HPS4	25198841	0.788000	0.28762	0.693000	0.30195	0.581000	0.36288	1.866000	0.39489	2.748000	0.94277	0.655000	0.94253	GGA		0.458	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		26	53	1	0	1.7881e-09	1	2.17656e-09	26	53				
PRKCH	5583	broad.mit.edu	37	14	61997175	61997175	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61997175C>T	ENST00000332981.5	+	12	2008	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.A46V|PRKCH_ENST00000555082.1_Silent_p.G380G	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGGCAATGGGCGTGTTGCTCT	0.517																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000556347.1																			0											c.(136-138)gCg>gTg									227.0	191.0	203.0					14																	61997175		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:61997175C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1623C>T	14.37:g.61997175C>T						PRKCH_ENST00000555082.1_Silent_p.G380G|PRKCH_ENST00000332981.5_Silent_p.G541G	p.A46V							2	137	+								B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.137C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	8.523	0.869169	0.17322	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.63	-6.63	0.01807	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43032	-0.9416	4	.	.	.	.	3.2251	0.06729	0.2075:0.2466:0.0728:0.4731	.	.	.	.	V	46	.	.	A	+	2	0	RP11-47I22.4	61066928	0.000000	0.05858	0.488000	0.27440	0.843000	0.47879	-5.643000	0.00107	-0.944000	0.03686	-0.145000	0.13849	GCG		0.517	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		54	102	0	0	0	1	0	54	102				
PDCD11	22984	broad.mit.edu	37	10	105199624	105199624	+	Splice_Site	SNP	C	C	T	rs113940597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105199624C>T	ENST00000369797.3	+	28	4241	c.4147C>T	c.(4147-4149)Cgc>Tgc	p.R1383C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1383	S1 motif 12. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGGTCCTACGGTAGGTGCC	0.522																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.e28+1		programmed cell death 11							85.0	83.0	84.0					10																	105199624		2203	4300	6503	SO:0001630	splice_region_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105199624C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4148+1C>T	10.37:g.105199624C>T							p.R1383_splice	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	28	4241	+		Colorectal(252;0.0747)|Breast(234;0.128)	1383			S1 motif 12.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Splice_Site	SNP	ENST00000369797.3	37	c.4148_splice	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	7.127	0.579112	0.13686	.	.	ENSG00000148843	ENST00000369797	T	0.18338	2.22	5.79	0.694	0.18062	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.420757	0.33691	N	0.004658	T	0.08088	0.0202	N	0.16478	0.41	0.26172	N	0.979853	B	0.14805	0.011	B	0.06405	0.002	T	0.20706	-1.0267	10	0.59425	D	0.04	-0.5126	2.832	0.05503	0.3468:0.3632:0.0693:0.2206	.	1383	Q14690	RRP5_HUMAN	C	1383	ENSP00000358812:R1383C	ENSP00000358812:R1383C	R	+	1	0	PDCD11	105189614	0.873000	0.30073	0.446000	0.26920	0.012000	0.07955	1.673000	0.37534	-0.116000	0.11893	-0.397000	0.06425	CGC		0.522	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		Missense_Mutation	32	26	0	0	0	1	0	32	26				
NRXN1	9378	broad.mit.edu	37	2	50149183	50149183	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50149183A>G	ENST00000406316.2	-	22	5809	c.4333T>C	c.(4333-4335)Tca>Cca	p.S1445P	NRXN1_ENST00000405472.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000342183.5_Missense_Mutation_p.S410P|NRXN1_ENST00000404971.1_Missense_Mutation_p.S1515P|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1445P|NRXN1_ENST00000401710.1_Missense_Mutation_p.S463P|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1475P|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1467P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1445					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACTGTGCTGAGTTACTGATG	0.448																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4543-4545)Tca>Cca		neurexin 1							231.0	189.0	203.0					2																	50149183		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50149183A>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4333T>C	2.37:g.50149183A>G	ENSP00000384311:p.Ser1445Pro					NRXN1_ENST00000402717.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000401710.1_Missense_Mutation_p.S463P|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1475P|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1445P|NRXN1_ENST00000342183.5_Missense_Mutation_p.S410P|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1445P	p.S1515P	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		24	5882	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1445					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4543T>C	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.82|17.82	3.482912|3.482912	0.63962|0.63962	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.74106	.|0.71;1.93;-0.1;-0.08;-0.81;-0.69;-0.4;-0.22	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.45606	.|U	.|0.000350	D|D	0.85340|0.85340	0.5674|0.5674	M|M	0.69823|0.69823	2.125|2.125	0.51482|0.51482	D|D	0.999921|0.999921	.|P;D;D;D;D;P	.|0.76494	.|0.945;0.997;0.999;0.999;0.999;0.914	.|D;D;D;D;D;P	.|0.87578	.|0.959;0.975;0.998;0.994;0.995;0.886	D|D	0.87023|0.87023	0.2130|0.2130	5|10	.|0.87932	.|D	.|0	.|.	15.6649|15.6649	0.77221|0.77221	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|110;1515;410;1445;1464;107	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	P|P	111|410;364;463;1515;1445;1467;1475;1516;1467;1445	.|ENSP00000341184:S410P;ENSP00000385580:S463P;ENSP00000385142:S1515P;ENSP00000384311:S1445P;ENSP00000434015:S1467P;ENSP00000385017:S1475P;ENSP00000385434:S1467P;ENSP00000385681:S1445P	.|ENSP00000341184:S410P	L|S	-|-	2|1	0|0	NRXN1|NRXN1	50002687|50002687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.139000|9.139000	0.94554|0.94554	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			27	58	0	0	0	1	0	27	58				
EHMT1	79813	broad.mit.edu	37	9	140611405	140611405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140611405G>T	ENST00000460843.1	+	3	440	c.413G>T	c.(412-414)aGg>aTg	p.R138M	EHMT1_ENST00000462484.1_Missense_Mutation_p.R138M|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107M	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	138					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(412-414)aGg>aTg		euchromatic histone-lysine N-methyltransferase 1							64.0	67.0	66.0					9																	140611405		2202	4299	6501	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611405G>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.413G>T	9.37:g.140611405G>T	ENSP00000417980:p.Arg138Met					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107M|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138M	p.R138M	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	440	+	all_cancers(76;0.164)		138					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.413G>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	g	20.8	4.049483	0.75846	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.80214	0.62;-0.12;-1.35	6.0	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	M	0.67953	2.075	0.49051	D	0.999744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.89817	0.3986	10	0.87932	D	0	.	15.5361	0.76004	0.0661:0.0:0.9339:0.0	.	138;107;138	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	M	107;107;138;138	ENSP00000334476:R107M;ENSP00000417328:R138M;ENSP00000417980:R138M	ENSP00000334476:R107M	R	+	2	0	EHMT1	139731226	1.000000	0.71417	0.240000	0.24138	0.958000	0.62258	6.610000	0.74178	1.567000	0.49668	0.639000	0.83563	AGG		0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		4	60	1	0	0.217242	1	0.218821	4	60				
MDH1B	130752	broad.mit.edu	37	2	207621692	207621692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207621692G>A	ENST00000374412.3	-	4	618	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	MDH1B_ENST00000454776.2_Missense_Mutation_p.H115Y|MDH1B_ENST00000449792.1_Missense_Mutation_p.H17Y|MDH1B_ENST00000392214.2_Missense_Mutation_p.H115Y	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	115					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTTTCTATATGTGCCCCCAGG	0.443																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(343-345)Cat>Tat		malate dehydrogenase 1B, NAD (soluble)							109.0	100.0	103.0					2																	207621692		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207621692G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.343C>T	2.37:g.207621692G>A	ENSP00000363533:p.His115Tyr					MDH1B_ENST00000449792.1_Missense_Mutation_p.H17Y|MDH1B_ENST00000454776.2_Missense_Mutation_p.H115Y|MDH1B_ENST00000392214.2_Missense_Mutation_p.H115Y	p.H115Y	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	4	618	-			115					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.343C>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049353	0.36181	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.59638	0.25;0.98;0.25;0.25	6.08	5.19	0.71726	.	0.211163	0.50627	D	0.000101	T	0.73853	0.3640	M	0.74881	2.28	0.29514	N	0.854024	D;D	0.67145	0.996;0.994	P;P	0.62184	0.899;0.795	T	0.74003	-0.3804	10	0.51188	T	0.08	-26.7981	16.7724	0.85542	0.0:0.0:0.8698:0.1302	.	115;115	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	Y	115;17;115;115	ENSP00000363533:H115Y;ENSP00000416577:H17Y;ENSP00000389916:H115Y;ENSP00000376049:H115Y	ENSP00000363533:H115Y	H	-	1	0	MDH1B	207329937	0.903000	0.30736	0.142000	0.22268	0.383000	0.30230	2.055000	0.41345	1.567000	0.49668	-0.181000	0.13052	CAT		0.443	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		4	75	0	0	0	1	0	4	75				
USP26	83844	broad.mit.edu	37	X	132161316	132161316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161316C>A	ENST00000511190.1	-	6	1402	c.933G>T	c.(931-933)caG>caT	p.Q311H	USP26_ENST00000370832.1_Missense_Mutation_p.Q311H|USP26_ENST00000406273.1_Missense_Mutation_p.Q311H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	311	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAGTAGAGACTGTAACACTG	0.393																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(931-933)caG>caT		ubiquitin specific peptidase 26							34.0	35.0	35.0					X																	132161316		2194	4274	6468	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161316C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.933G>T	X.37:g.132161316C>A	ENSP00000423390:p.Gln311His					USP26_ENST00000406273.1_Missense_Mutation_p.Q311H|USP26_ENST00000370832.1_Missense_Mutation_p.Q311H	p.Q311H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1402	-	Acute lymphoblastic leukemia(192;0.000127)		311					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.933G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019256	0.35606	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	D;D;D	0.91686	-2.89;-2.89;-2.89	3.96	3.1	0.35709	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.45867	D	0.000329	D	0.96081	0.8723	M	0.91300	3.195	0.33711	D	0.615771	D	0.89917	1.0	D	0.97110	1.0	D	0.96945	0.9690	10	0.87932	D	0	-10.5769	8.8915	0.35437	0.0:0.8853:0.0:0.1147	.	311	Q9BXU7	UBP26_HUMAN	H	311	ENSP00000359869:Q311H;ENSP00000423390:Q311H;ENSP00000384360:Q311H	ENSP00000359869:Q311H	Q	-	3	2	USP26	131988982	1.000000	0.71417	0.815000	0.32552	0.030000	0.12068	2.405000	0.44548	1.042000	0.40150	0.529000	0.55759	CAG		0.393	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		27	36	1	0	3.73988e-18	1	4.86822e-18	27	36				
ST18	9705	broad.mit.edu	37	8	53084774	53084774	+	Missense_Mutation	SNP	G	G	T	rs377034114		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084774G>T	ENST00000276480.7	-	10	1330	c.647C>A	c.(646-648)cCt>cAt	p.P216H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	216					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGACTCTAGGTGGTTTGGT	0.413																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(646-648)cCt>cAt		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							68.0	69.0	69.0					8																	53084774		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084774G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.647C>A	8.37:g.53084774G>T	ENSP00000276480:p.Pro216His						p.P216H	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	1330	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	216					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.647C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	7.248	0.602674	0.13939	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.40756	1.02;1.03	5.91	-2.05	0.07321	.	1.047370	0.07374	N	0.886273	T	0.16342	0.0393	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	10	0.36615	T	0.2	0.0597	8.3461	0.32275	0.0:0.1852:0.4637:0.3511	.	216	O60284	ST18_HUMAN	H	216	ENSP00000276480:P216H;ENSP00000428521:P216H	ENSP00000276480:P216H	P	-	2	0	ST18	53247327	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-0.371000	0.07513	-0.595000	0.05828	0.655000	0.94253	CCT		0.413	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			19	47	1	0	7.07596e-05	1	7.86387e-05	19	47				
ZNF560	147741	broad.mit.edu	37	19	9578110	9578110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578110C>T	ENST00000301480.4	-	10	1726	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCAAATGAGCAAAAAGAGAT	0.408																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1513-1515)Gct>Act		zinc finger protein 560							119.0	125.0	123.0					19																	9578110		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578110C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1513G>A	19.37:g.9578110C>T	ENSP00000301480:p.Ala505Thr						p.A505T	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1726	-			505					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1513G>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	8.829	0.939518	0.18281	.	.	ENSG00000198028	ENST00000301480	T	0.18174	2.23	2.05	-2.81	0.05805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08846	0.0219	N	0.20483	0.58	0.09310	N	1	P	0.39216	0.664	B	0.41723	0.365	T	0.30238	-0.9985	9	0.12430	T	0.62	.	4.3045	0.10940	0.0:0.4134:0.3748:0.2117	.	505	Q96MR9	ZN560_HUMAN	T	505	ENSP00000301480:A505T	ENSP00000301480:A505T	A	-	1	0	ZNF560	9439110	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-3.952000	0.00327	-0.583000	0.05921	0.491000	0.48974	GCT		0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		51	78	0	0	0	1	0	51	78				
KAT2A	2648	broad.mit.edu	37	17	40267022	40267022	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40267022C>A	ENST00000225916.5	-	13	1960	c.1907G>T	c.(1906-1908)aGc>aTc	p.S636I	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	636	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGTAGCGGCTCTTGGGCAC	0.567																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1906-1908)aGc>aTc		K(lysine) acetyltransferase 2A							217.0	201.0	207.0					17																	40267022		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40267022C>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1907G>T	17.37:g.40267022C>A	ENSP00000225916:p.Ser636Ile						p.S636I	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			13	1960	-			636			N-acetyltransferase.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1907G>T	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871579	0.51695	.	.	ENSG00000108773	ENST00000225916	T	0.05996	3.36	5.09	4.1	0.47936	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.042421	0.85682	D	0.000000	T	0.13500	0.0327	M	0.88241	2.94	0.58432	D	0.999993	P	0.49961	0.93	B	0.38655	0.278	T	0.18429	-1.0337	10	0.72032	D	0.01	-19.5773	14.6295	0.68645	0.0:0.7228:0.2772:0.0	.	636	Q92830	KAT2A_HUMAN	I	636	ENSP00000225916:S636I	ENSP00000225916:S636I	S	-	2	0	KAT2A	37520548	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.235000	0.51328	1.106000	0.41623	0.561000	0.74099	AGC		0.567	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		13	175	1	0	3.27435e-08	1	3.90559e-08	13	175				
SLC2A12	154091	broad.mit.edu	37	6	134350472	134350472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350472C>A	ENST00000275230.5	-	2	646	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	164					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGAAGGCCTCTTCTGTGTTG	0.458																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(490-492)aGa>aTa		solute carrier family 2 (facilitated glucose transporter), member 12							104.0	104.0	104.0					6																	134350472		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350472C>A	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.491G>T	6.37:g.134350472C>A	ENSP00000275230:p.Arg164Ile						p.R164I	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	646	-	Breast(56;0.214)|Colorectal(23;0.221)		164					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.491G>T	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555966	0.86231	.	.	ENSG00000146411	ENST00000275230	D	0.82433	-1.61	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96436	0.9323	10	0.87932	D	0	-20.4627	19.174	0.93594	0.0:1.0:0.0:0.0	.	164	Q8TD20	GTR12_HUMAN	I	164	ENSP00000275230:R164I	ENSP00000275230:R164I	R	-	2	0	SLC2A12	134392165	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.426000	0.80270	2.542000	0.85734	0.467000	0.42956	AGA		0.458	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			14	73	1	0	1.5739e-10	1	1.9432e-10	14	73				
PCDHGB6	56100	broad.mit.edu	37	5	140788768	140788768	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788768A>G	ENST00000520790.1	+	1	999	c.999A>G	c.(997-999)gtA>gtG	p.V333V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTAAAGTAATCATAGAAA	0.403																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(997-999)gtA>gtG									99.0	100.0	100.0					5																	140788768		1893	4117	6010	SO:0001819	synonymous_variant	0							g.chr5:140788768A>G	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.999A>G	5.37:g.140788768A>G						PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V333V	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	999	+								Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.999A>G	CCDS54929.1																																																																																				0.403	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		33	46	0	0	0	1	0	33	46				
MID1	4281	broad.mit.edu	37	X	10535405	10535405	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10535405A>G	ENST00000317552.4	-	2	583	c.183T>C	c.(181-183)caT>caC	p.H61H	MID1_ENST00000453318.2_Silent_p.H61H|MID1_ENST00000380780.1_Silent_p.H61H|MID1_ENST00000380782.2_Silent_p.H61H|MID1_ENST00000380787.1_Silent_p.H61H|MID1_ENST00000380785.1_Silent_p.H61H|MID1_ENST00000380779.1_Silent_p.H61H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	61					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGTGATGACATGCCGGCAGG	0.597																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(181-183)caT>caC		midline 1 (Opitz/BBB syndrome)							113.0	85.0	94.0					X																	10535405		2203	4300	6503	SO:0001819	synonymous_variant	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10535405A>G	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.183T>C	X.37:g.10535405A>G						MID1_ENST00000380785.1_Silent_p.H61H|MID1_ENST00000380787.1_Silent_p.H61H|MID1_ENST00000380782.2_Silent_p.H61H|MID1_ENST00000453318.2_Silent_p.H61H|MID1_ENST00000380780.1_Silent_p.H61H|MID1_ENST00000380779.1_Silent_p.H61H	p.H61H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			2	583	-			61					B2RCG2|O75361|Q9BZX5	Silent	SNP	ENST00000317552.4	37	c.183T>C	CCDS14138.1																																																																																				0.597	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			7	90	0	0	0	1	0	7	90				
SLC18B1	116843	broad.mit.edu	37	6	133100435	133100435	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133100435G>T	ENST00000275227.4	-	7	863	c.767C>A	c.(766-768)cCt>cAt	p.P256H	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Missense_Mutation_p.P130H	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	256					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AGACAGAGTAGGATCGAGGAA	0.473																																						ENST00000275227.4																			0											c.(766-768)cCt>cAt		solute carrier family 18, subfamily B, member 1							146.0	126.0	132.0					6																	133100435		2203	4300	6503	SO:0001583	missense	116843				transmembrane transport	integral to membrane		g.chr6:133100435G>T	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.767C>A	6.37:g.133100435G>T	ENSP00000275227:p.Pro256His					SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Missense_Mutation_p.P130H	p.P256H	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN			7	863	-			256					A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.767C>A	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551320	0.86127	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.61627	0.09;0.09	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.047101	0.85682	D	0.000000	T	0.74238	0.3690	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.77619	-0.2520	10	0.87932	D	0	-19.1179	16.2101	0.82150	0.0:0.0:1.0:0.0	.	130;256	B7Z1S5;Q6NT16	.;CF192_HUMAN	H	256;130	ENSP00000275227:P256H;ENSP00000444098:P130H	ENSP00000275227:P256H	P	-	2	0	C6orf192	133142128	1.000000	0.71417	0.809000	0.32408	0.997000	0.91878	8.035000	0.88872	2.746000	0.94184	0.561000	0.74099	CCT		0.473	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		25	67	1	0	3.73808e-20	1	4.90194e-20	25	67				
OLFM1	10439	broad.mit.edu	37	9	138011443	138011443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138011443C>T	ENST00000371793.3	+	6	1128	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	OLFM1_ENST00000371796.3_Missense_Mutation_p.R266C|OLFM1_ENST00000252854.4_Missense_Mutation_p.R275C	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	293	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CACCTCCCACCGTCTCCCCCA	0.527																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(823-825)Cgt>Tgt		olfactomedin 1							114.0	102.0	106.0					9																	138011443		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011443C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.877C>T	9.37:g.138011443C>T	ENSP00000360858:p.Arg293Cys					OLFM1_ENST00000371796.3_Missense_Mutation_p.R266C|OLFM1_ENST00000371793.3_Missense_Mutation_p.R293C	p.R275C	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1010	+		Myeloproliferative disorder(178;0.0333)	293			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.823C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.174285	0.78452	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.07	5.07	0.68467	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.73380	0.98;0.935	D	0.92761	0.6224	10	0.38643	T	0.18	.	18.4324	0.90630	0.0:1.0:0.0:0.0	.	293;275	Q99784;Q6IMJ8	NOE1_HUMAN;.	C	275;266;293;190	ENSP00000252854:R275C;ENSP00000360861:R266C;ENSP00000360858:R293C;ENSP00000443806:R190C	ENSP00000252854:R275C	R	+	1	0	OLFM1	137151264	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.590000	0.82653	2.357000	0.79964	0.561000	0.74099	CGT		0.527	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		22	37	0	0	0	1	0	22	37				
RFX4	5992	broad.mit.edu	37	12	107155035	107155035	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107155035C>A	ENST00000392842.1	+	18	2410	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	RFX4_ENST00000229387.5_Missense_Mutation_p.L572M|RFX4_ENST00000357881.4_Missense_Mutation_p.L675M|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	666					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACTCCCAGACTGCATCCTAC	0.517																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1996-1998)Ctg>Atg		regulatory factor X, 4 (influences HLA class II expression)							146.0	148.0	147.0					12																	107155035		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107155035C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1996C>A	12.37:g.107155035C>A	ENSP00000376585:p.Leu666Met					RFX4_ENST00000357881.4_Missense_Mutation_p.L675M|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.L572M	p.L666M	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			18	2410	+			666					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1996C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922505	0.52653	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.73258	-0.73;-0.73;0.18	5.55	5.55	0.83447	.	0.068011	0.64402	D	0.000013	T	0.74230	0.3689	N	0.24115	0.695	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.997;0.995	D;D;D	0.80764	0.994;0.991;0.969	T	0.76642	-0.2884	10	0.62326	D	0.03	-14.0685	13.7498	0.62901	0.0:0.9266:0.0:0.0734	.	572;675;666	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	M	666;675;572	ENSP00000376585:L666M;ENSP00000350552:L675M;ENSP00000229387:L572M	ENSP00000229387:L572M	L	+	1	2	RFX4	105679165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.579000	0.60936	2.602000	0.87976	0.655000	0.94253	CTG		0.517	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		61	117	1	0	5.82218e-30	1	7.79564e-30	61	117				
SLC38A3	10991	broad.mit.edu	37	3	50252882	50252882	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50252882G>T	ENST00000420502.1	+	0	517									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CAAGTCCTCAGGGGTCGTGGG	0.587																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						83.0	85.0	84.0					3																	50252882		2029	4197	6226			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50252882G>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50252882G>T										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	517	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.587	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		6	61	1	0	1.12685e-05	1	1.27857e-05	6	61				
KDM3A	55818	broad.mit.edu	37	2	86705788	86705788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86705788C>T	ENST00000409556.1	+	16	2611	c.2246C>T	c.(2245-2247)gCa>gTa	p.A749V	KDM3A_ENST00000542128.1_Missense_Mutation_p.A697V|KDM3A_ENST00000312912.5_Missense_Mutation_p.A749V|KDM3A_ENST00000409064.1_Missense_Mutation_p.A749V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	749					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGAATAAAGGCAAACTGCCCT	0.393																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2245-2247)gCa>gTa		lysine (K)-specific demethylase 3A							115.0	103.0	107.0					2																	86705788		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705788C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2246C>T	2.37:g.86705788C>T	ENSP00000386660:p.Ala749Val					KDM3A_ENST00000409064.1_Missense_Mutation_p.A749V|KDM3A_ENST00000542128.1_Missense_Mutation_p.A697V|KDM3A_ENST00000312912.5_Missense_Mutation_p.A749V	p.A749V			Q9Y4C1	KDM3A_HUMAN			16	2611	+			749					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2246C>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824611	0.90955	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.73	4.85	0.62838	.	0.078412	0.53938	D	0.000049	T	0.72391	0.3454	M	0.66939	2.045	0.41841	D	0.990127	D;D	0.59357	0.984;0.985	D;P	0.63793	0.918;0.83	T	0.76181	-0.3053	10	0.66056	D	0.02	.	15.1575	0.72755	0.1422:0.8578:0.0:0.0	.	697;749	F5H070;Q9Y4C1	.;KDM3A_HUMAN	V	749;749;749;749;697	ENSP00000386660:A749V;ENSP00000323659:A749V;ENSP00000386516:A749V;ENSP00000438324:A697V	ENSP00000323659:A749V	A	+	2	0	KDM3A	86559299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.525000	0.81892	1.402000	0.46780	0.655000	0.94253	GCA		0.393	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		17	57	0	0	0	1	0	17	57				
ZNF18	7566	broad.mit.edu	37	17	11881326	11881326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11881326G>A	ENST00000322748.3	-	9	2202	c.1598C>T	c.(1597-1599)tCg>tTg	p.S533L	ZNF18_ENST00000580306.2_Missense_Mutation_p.S533L|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Missense_Mutation_p.S532L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	533					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCAAGGCTCGAGCTCCAGCT	0.433																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1597-1599)tCg>tTg		zinc finger protein 18							116.0	116.0	116.0					17																	11881326		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881326G>A	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1598C>T	17.37:g.11881326G>A	ENSP00000315664:p.Ser533Leu					ZNF18_ENST00000454073.3_Missense_Mutation_p.S532L|ZNF18_ENST00000580306.1_Missense_Mutation_p.S533L|ZNF18_ENST00000580613.1_3'UTR	p.S533L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	2202	-			533					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.1598C>T	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.248112	0.22880	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.15834	2.39;3.15	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000217	T	0.39600	0.1084	M	0.63843	1.955	0.27073	N	0.963275	D;D	0.89917	1.0;0.999	D;P	0.64687	0.928;0.849	T	0.13791	-1.0496	10	0.62326	D	0.03	-9.0899	17.8532	0.88754	0.0:0.0:1.0:0.0	.	532;533	P17022-2;P17022	.;ZNF18_HUMAN	L	533	ENSP00000391376:S533L;ENSP00000315664:S533L	ENSP00000315664:S533L	S	-	2	0	ZNF18	11822051	0.002000	0.14202	0.968000	0.41197	0.435000	0.31806	1.452000	0.35156	2.816000	0.96949	0.563000	0.77884	TCG		0.433	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		7	116	0	0	0	1	0	7	116				
FAM41C	284593	broad.mit.edu	37	1	809535	809535	+	lincRNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:809535G>A	ENST00000446136.1	-	0	1158					NR_027055.1				family with sequence similarity 41, member C																		CTTCAAGCGTGTCTCAGAGCA	0.517																																						ENST00000446136.1																			0																																																			0							g.chr1:809535G>A	BC047940		1p36.33	2013-01-16	2011-08-31	2011-08-31	ENSG00000230368	ENSG00000230368		"""Long non-coding RNAs"""	27635	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_027055		Approved		uc001abt.4		OTTHUMG00000002469		1.37:g.809535G>A								NR_027055.1						0	1158	-									RNA	SNP	ENST00000446136.1	37																																																																																						0.517	FAM41C-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007021.1	NR_027055		4	70	0	0	0	1	0	4	70				
NIT2	56954	broad.mit.edu	37	3	100058021	100058021	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058021C>T	ENST00000394140.4	+	2	189	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	33	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GAGGCAGCAACGCAAGGAGCC	0.502																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(97-99)aCg>aTg		nitrilase family, member 2							158.0	155.0	156.0					3																	100058021		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100058021C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.98C>T	3.37:g.100058021C>T	ENSP00000377696:p.Thr33Met						p.T33M	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			2	189	+			33			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.98C>T	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583056	0.46006	.	.	ENSG00000114021	ENST00000394140	D	0.87729	-2.29	5.21	-2.27	0.06846	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.969423	0.08583	N	0.924276	T	0.79964	0.4537	N	0.25992	0.78	0.09310	N	1	P;P	0.44309	0.832;0.507	P;B	0.44561	0.453;0.329	T	0.70443	-0.4870	10	0.62326	D	0.03	-14.1361	8.0382	0.30506	0.6416:0.2111:0.0838:0.0636	.	33;33	B7Z3F9;Q9NQR4	.;NIT2_HUMAN	M	33	ENSP00000377696:T33M	ENSP00000377696:T33M	T	+	2	0	NIT2	101540711	0.000000	0.05858	0.000000	0.03702	0.646000	0.38490	-0.332000	0.07904	-0.279000	0.09167	0.484000	0.47621	ACG		0.502	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		14	144	0	0	0	1	0	14	144				
ACVR1	90	broad.mit.edu	37	2	158622483	158622483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158622483C>A	ENST00000263640.3	-	8	1445	c.1016G>T	c.(1015-1017)aGc>aTc	p.S339I	ACVR1_ENST00000409283.2_Missense_Mutation_p.S339I|ACVR1_ENST00000434821.1_Missense_Mutation_p.S339I|ACVR1_ENST00000410057.2_Missense_Mutation_p.S339I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AATATTTTTGCTCTTTAAATC	0.368																																						ENST00000263640.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19						c.(1015-1017)aGc>aTc		activin A receptor, type I	Adenosine triphosphate(DB00171)						89.0	90.0	90.0					2																	158622483		2203	4300	6503	SO:0001583	missense	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158622483C>A		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1016G>T	2.37:g.158622483C>A	ENSP00000263640:p.Ser339Ile					ACVR1_ENST00000410057.2_Missense_Mutation_p.S339I|ACVR1_ENST00000409283.2_Missense_Mutation_p.S339I|ACVR1_ENST00000434821.1_Missense_Mutation_p.S339I	p.S339I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	8	1445	-			339			Protein kinase.			Missense_Mutation	SNP	ENST00000263640.3	37	c.1016G>T	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037142	0.93630	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98701	1.0700	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	339	Q04771	ACVR1_HUMAN	I	339	ENSP00000263640:S339I;ENSP00000387273:S339I;ENSP00000405004:S339I;ENSP00000387127:S339I	ENSP00000263640:S339I	S	-	2	0	ACVR1	158330729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.941000	0.99782	0.655000	0.94253	AGC		0.368	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		8	65	1	0	0.0477658	1	0.0488009	8	65				
TRIM51HP	440041	broad.mit.edu	37	11	55065673	55065673	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55065673G>T	ENST00000526016.1	-	0	35					NR_038174.2				tripartite motif-containing 51H, pseudogene																		ATGGTGACTGGGTCTAGGAAG	0.488																																						ENST00000526016.1																			0																																																			0							g.chr11:55065673G>T			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065673G>T								NR_038174.2						0	35	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.488	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			6	58	1	0	8.12818e-05	1	8.99451e-05	6	58				
PSD	5662	broad.mit.edu	37	10	104176346	104176346	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104176346C>T	ENST00000020673.5	-	2	976	c.450G>A	c.(448-450)cgG>cgA	p.R150R	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Silent_p.R150R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	150	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATGCTTCCAGCCGTAACTTCC	0.667																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(448-450)cgG>cgA		pleckstrin and Sec7 domain containing							21.0	23.0	22.0					10																	104176346		2202	4294	6496	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176346C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.450G>A	10.37:g.104176346C>T						PSD_ENST00000406432.1_Silent_p.R150R	p.R150R	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	976	-			150			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.450G>A	CCDS31272.1																																																																																				0.667	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			11	19	0	0	0	1	0	11	19				
CEP192	55125	broad.mit.edu	37	18	13103558	13103558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103558C>A	ENST00000325971.8	+	37	6727	c.5134C>A	c.(5134-5136)Ctg>Atg	p.L1712M	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.L2308M|CEP192_ENST00000430049.2_Missense_Mutation_p.L1833M			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1712					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAATGGCATCTGTCATCTTT	0.408																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6922-6924)Ctg>Atg		centrosomal protein 192kDa							190.0	160.0	170.0					18																	13103558		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13103558C>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5134C>A	18.37:g.13103558C>A	ENSP00000317156:p.Leu1712Met					CEP192_ENST00000325971.8_Missense_Mutation_p.L1712M|CEP192_ENST00000430049.2_Missense_Mutation_p.L1833M|CEP192_ENST00000540847.2_3'UTR	p.L2308M	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			39	7002	+			1903					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6922C>A		.	.	.	.	.	.	.	.	.	.	C	16.17	3.047770	0.55110	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.11712	2.75;2.75;2.76	5.88	2.67	0.31697	.	0.073374	0.56097	D	0.000033	T	0.26702	0.0653	M	0.75777	2.31	0.46416	D	0.999038	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.79108	0.967;0.992;0.975;0.958	T	0.01178	-1.1427	10	0.87932	D	0	-8.9717	5.6897	0.17823	0.0:0.4889:0.0:0.5111	.	1833;2308;312;910	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	M	2308;1712;1712;1833;312	ENSP00000427550:L2308M;ENSP00000317156:L1712M;ENSP00000389190:L1833M	ENSP00000317156:L1712M	L	+	1	2	CEP192	13093558	0.938000	0.31826	0.999000	0.59377	0.477000	0.33069	0.975000	0.29449	0.780000	0.33566	0.650000	0.86243	CTG		0.408	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		28	58	1	0	1.34939e-06	1	1.56667e-06	28	58				
CCKAR	886	broad.mit.edu	37	4	26490892	26490892	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26490892G>A	ENST00000295589.3	-	2	521	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	109					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.F109F(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGGCGCTCCCGAAGATGAAAT	0.557																																						ENST00000295589.3																			1	Substitution - coding silent(1)	p.F109F(1)	large_intestine(1)	NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(325-327)ttC>ttT		cholecystokinin A receptor	Ceruletide(DB00403)						161.0	145.0	150.0					4																	26490892		2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26490892G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.327C>T	4.37:g.26490892G>A							p.F109F	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			2	521	-		Breast(46;0.0503)	109					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.327C>T	CCDS3438.1																																																																																				0.557	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			52	81	0	0	0	1	0	52	81				
TAX1BP1	8887	broad.mit.edu	37	7	27831736	27831736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27831736C>T	ENST00000396319.2	+	9	1238	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.R227*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.R384*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	384	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGTCAACGTACGAGACAGAAC	0.438																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1150-1152)Cga>Tga		Tax1 (human T-cell leukemia virus type I) binding protein 1							110.0	100.0	103.0					7																	27831736		2203	4300	6503	SO:0001587	stop_gained	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27831736C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1150C>T	7.37:g.27831736C>T	ENSP00000379612:p.Arg384*					TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.R227*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.R384*	p.R384*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		9	1238	+			384			Oligomerization.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Nonsense_Mutation	SNP	ENST00000396319.2	37	c.1150C>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092791	0.94149	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	.	.	.	6.05	4.07	0.47477	.	0.000000	0.44688	D	0.000438	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7243	16.9973	0.86371	0.2431:0.7569:0.0:0.0	.	.	.	.	X	384;384;384;227;384	.	ENSP00000265393:R384X	R	+	1	2	TAX1BP1	27798261	0.945000	0.32115	0.942000	0.38095	0.266000	0.26442	2.002000	0.40835	1.555000	0.49500	0.650000	0.86243	CGA		0.438	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		6	95	0	0	0	1	0	6	95				
AWAT1	158833	broad.mit.edu	37	X	69459754	69459754	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69459754C>A	ENST00000374521.3	+	6	843	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	268					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CACTGGGCTCCTGCCATACTC	0.537																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(802-804)Ctg>Atg		acyl-CoA wax alcohol acyltransferase 1							76.0	69.0	72.0					X																	69459754		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69459754C>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.802C>A	X.37:g.69459754C>A	ENSP00000363645:p.Leu268Met						p.L268M	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			6	843	+			268					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.802C>A	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337644	0.24253	.	.	ENSG00000204195	ENST00000374521	T	0.22945	1.93	5.39	1.6	0.23607	.	0.232076	0.29579	N	0.011751	T	0.18173	0.0436	L	0.35854	1.095	0.49213	D	0.999766	B	0.29531	0.247	B	0.38428	0.273	T	0.11179	-1.0598	10	0.28530	T	0.3	-2.6245	1.6109	0.02693	0.1459:0.4659:0.1395:0.2487	.	268	Q58HT5	AWAT1_HUMAN	M	268	ENSP00000363645:L268M	ENSP00000363645:L268M	L	+	1	2	AWAT1	69376479	0.172000	0.23043	0.056000	0.19401	0.084000	0.17831	0.387000	0.20718	-0.011000	0.14247	0.544000	0.68410	CTG		0.537	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		22	28	1	0	3.10358e-05	1	3.48756e-05	22	28				
CCNC	892	broad.mit.edu	37	6	100009529	100009529	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100009529T>C	ENST00000520429.1	-	3	613	c.168A>G	c.(166-168)aaA>aaG	p.K56K	CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000369220.4_Silent_p.K56K|CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000520371.1_Silent_p.K56K|CCNC_ENST00000518714.1_Silent_p.K56K|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000482541.2_Silent_p.K56K	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	56	Cyclin N-terminal.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GTTGTCTTAATTTAAGATGTT	0.274																																					GBM(57;273 1020 40094 44454 49348)	ENST00000520429.1																			0											c.(166-168)aaA>aaG		cyclin C							91.0	103.0	99.0					6																	100009529		2203	4298	6501	SO:0001819	synonymous_variant	892				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	g.chr6:100009529T>C		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.168A>G	6.37:g.100009529T>C						CCNC_ENST00000482541.2_Silent_p.K56K|CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000369220.4_Silent_p.K56K|CCNC_ENST00000520371.1_Silent_p.K56K|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000518714.1_Silent_p.K56K	p.K56K	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.064)	3	613	-		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	56			Cyclin N-terminal.		B4DPZ1|Q9H543	Silent	SNP	ENST00000520429.1	37	c.168A>G	CCDS34502.1																																																																																				0.274	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190		8	77	0	0	0	1	0	8	77				
KLK11	11012	broad.mit.edu	37	19	51527961	51527961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51527961G>A	ENST00000594768.1	-	3	411	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000391804.3_Missense_Mutation_p.R44W|KLK11_ENST00000453757.3_Missense_Mutation_p.R44W|KLK11_ENST00000319720.7_Missense_Mutation_p.R44W	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	76	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAGTAGCCGCGTCTTCTCG	0.682																																						ENST00000594768.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(226-228)Cgg>Tgg		kallikrein-related peptidase 11							27.0	24.0	25.0					19																	51527961		2203	4300	6503	SO:0001583	missense	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51527961G>A	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.226C>T	19.37:g.51527961G>A	ENSP00000473047:p.Arg76Trp					KLK11_ENST00000391804.3_Missense_Mutation_p.R44W|KLK11_ENST00000319720.7_Missense_Mutation_p.R44W|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Missense_Mutation_p.R44W|KLK11_ENST00000600362.1_Intron	p.R76W	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	3	411	-		all_neural(266;0.026)	76			Peptidase S1.		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	c.226C>T	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.677876	0.29783	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.21	1.96	0.26148	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33092	U	0.005282	D	0.90896	0.7139	L	0.49126	1.545	0.25110	N	0.990727	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.72338	0.939;0.879;0.977	D	0.83449	0.0047	10	0.46703	T	0.11	.	10.4872	0.44729	0.0:0.0:0.6484:0.3516	.	44;76;44	Q0WXX5;Q9UBX7;Q8IXD7	.;KLK11_HUMAN;.	W	44;44;44;76	ENSP00000375680:R44W;ENSP00000324269:R44W;ENSP00000413958:R44W;ENSP00000324414:R76W	ENSP00000324269:R44W	R	-	1	2	KLK11	56219773	0.012000	0.17670	0.453000	0.27007	0.035000	0.12851	0.481000	0.22260	0.372000	0.24591	0.455000	0.32223	CGG		0.682	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		7	9	0	0	0	1	0	7	9				
TTN	7273	broad.mit.edu	37	2	179606116	179606116	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606116G>T	ENST00000591111.1	-	46	11117	c.10893C>A	c.(10891-10893)cgC>cgA	p.R3631R	TTN_ENST00000460472.2_Silent_p.R3585R|TTN_ENST00000359218.5_Silent_p.R3710R|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.R3948R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.R3777R			Q8WZ42	TITIN_HUMAN	titin	13937	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAGCACAGCGAATTGGTT	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11842-11844)cgC>cgA		titin							147.0	142.0	144.0					2																	179606116		1921	4142	6063	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606116G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10893C>A	2.37:g.179606116G>T						TTN_ENST00000460472.2_Silent_p.R3585R|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Silent_p.R3710R|TTN_ENST00000342175.6_Silent_p.R3777R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R3631R	p.R3948R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12068	-			3631					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11844C>A																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	158	1	0	4.7546e-09	1	5.74312e-09	17	158				
PCDHGC3	5098	broad.mit.edu	37	5	140857116	140857116	+	Missense_Mutation	SNP	A	A	G	rs370475432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140857116A>G	ENST00000308177.3	+	1	1537	c.1433A>G	c.(1432-1434)aAc>aGc	p.N478S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACTAAACCTAAGTGTC	0.502																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1432-1434)aAc>aGc									97.0	110.0	106.0					5																	140857116		2203	4300	6503	SO:0001583	missense	0							g.chr5:140857116A>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1433A>G	5.37:g.140857116A>G	ENSP00000312070:p.Asn478Ser					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.N478S	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1537	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1433A>G	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	A	5.594	0.294320	0.10567	.	.	ENSG00000240184	ENST00000308177	T	0.50813	0.73	5.19	5.19	0.71726	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.32763	0.0840	N	0.02368	-0.58	0.23581	N	0.997365	P;B	0.51791	0.948;0.234	P;B	0.54499	0.754;0.099	T	0.19484	-1.0304	9	0.02654	T	1	.	15.5124	0.75793	1.0:0.0:0.0:0.0	.	478;478	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	478	ENSP00000312070:N478S	ENSP00000312070:N478S	N	+	2	0	PCDHGC3	140837300	0.394000	0.25246	0.996000	0.52242	0.969000	0.65631	3.533000	0.53561	2.311000	0.77944	0.533000	0.62120	AAC		0.502	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		14	124	0	0	0	1	0	14	124				
CPT1B	1375	broad.mit.edu	37	22	51009825	51009825	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51009825C>T	ENST00000360719.2	-	14	1856	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CPT1B_ENST00000395650.2_Silent_p.A573A|CPT1B_ENST00000405237.3_Silent_p.A573A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.A539A|CPT1B_ENST00000440709.1_Silent_p.A492A|CPT1B_ENST00000434492.2_Silent_p.A368A|CPT1B_ENST00000312108.7_Silent_p.A573A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	573					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGCTGCAGCGCGATCTGCA	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1717-1719)gcG>gcA		carnitine palmitoyltransferase 1B (muscle)							79.0	69.0	73.0					22																	51009825		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009825C>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1719G>A	22.37:g.51009825C>T						CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.A573A|CPT1B_ENST00000405237.3_Silent_p.A573A|CPT1B_ENST00000434492.2_Silent_p.A368A|CPT1B_ENST00000440709.1_Silent_p.A492A|CPT1B_ENST00000312108.7_Silent_p.A573A|CPT1B_ENST00000457250.1_Silent_p.A539A	p.A573A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	14	1856	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	573					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.1719G>A	CCDS14098.1																																																																																				0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		33	35	0	0	0	1	0	33	35				
COL6A2	1292	broad.mit.edu	37	21	47532002	47532002	+	Silent	SNP	G	G	A	rs143678454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47532002G>A	ENST00000300527.4	+	3	329	c.225G>A	c.(223-225)ccG>ccA	p.P75P	COL6A2_ENST00000357838.4_Silent_p.P75P|COL6A2_ENST00000409416.1_Silent_p.P75P|COL6A2_ENST00000397763.1_Silent_p.P75P|COL6A2_ENST00000310645.5_Silent_p.P75P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	75	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTTCGTGCCGCAGTTCATCA	0.607																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(223-225)ccG>ccA		collagen, type VI, alpha 2							91.0	64.0	73.0					21																	47532002		2203	4300	6503	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532002G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.225G>A	21.37:g.47532002G>A						COL6A2_ENST00000397763.1_Silent_p.P75P|COL6A2_ENST00000409416.1_Silent_p.P75P|COL6A2_ENST00000357838.4_Silent_p.P75P|COL6A2_ENST00000310645.5_Silent_p.P75P	p.P75P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	329	+	Breast(49;0.245)		75			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.225G>A	CCDS13728.1																																																																																				0.607	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	35	0	0	0	1	0	9	35				
POMGNT2	84892	broad.mit.edu	37	3	43121702	43121702	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43121702G>T	ENST00000344697.2	-	2	1567	c.1222C>A	c.(1222-1224)Ccc>Acc	p.P408T	POMGNT2_ENST00000441964.1_Missense_Mutation_p.P408T	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	408					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TGATCCCAGGGCCGCTCAGGG	0.617																																						ENST00000344697.2																			0											c.(1222-1224)Ccc>Acc									54.0	50.0	51.0					3																	43121702		2203	4300	6503	SO:0001583	missense	0							g.chr3:43121702G>T	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1222C>A	3.37:g.43121702G>T	ENSP00000344125:p.Pro408Thr					GTDC2_ENST00000441964.1_Missense_Mutation_p.P408T	p.P408T	NM_032806.4	NP_116195.2					2	1567	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.1222C>A	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418028	0.42918	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.77750	-1.12;-1.12	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	M	0.82823	2.61	0.80722	D	1	D	0.64830	0.994	P	0.54312	0.748	D	0.88243	0.2911	10	0.66056	D	0.02	-25.2769	18.5085	0.90907	0.0:0.0:1.0:0.0	.	408	Q8NAT1	AGO61_HUMAN	T	408	ENSP00000408992:P408T;ENSP00000344125:P408T	ENSP00000344125:P408T	P	-	1	0	C3orf39	43096706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.914000	0.63348	2.614000	0.88457	0.650000	0.86243	CCC		0.617	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		11	36	1	0	5.50884e-06	1	6.28354e-06	11	36				
PAK7	57144	broad.mit.edu	37	20	9525092	9525092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9525092G>A	ENST00000378429.3	-	9	2339	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	PAK7_ENST00000353224.5_Missense_Mutation_p.P598L|PAK7_ENST00000378423.1_Missense_Mutation_p.P598L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCCTCTTCGGCACCTCTTT	0.448																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1792-1794)cCg>cTg		p21 protein (Cdc42/Rac)-activated kinase 7							111.0	104.0	107.0					20																	9525092		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9525092G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1793C>T	20.37:g.9525092G>A	ENSP00000367686:p.Pro598Leu					PAK7_ENST00000353224.5_Missense_Mutation_p.P598L|PAK7_ENST00000378423.1_Missense_Mutation_p.P598L	p.P598L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		9	2339	-			598			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1793C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338321	0.95783	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.65178	-0.14;-0.14;-0.14	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69022	-0.5255	9	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	598	Q9P286	PAK7_HUMAN	L	598	ENSP00000367686:P598L;ENSP00000322957:P598L;ENSP00000367679:P598L	.	P	-	2	0	PAK7	9473092	1.000000	0.71417	0.992000	0.48379	0.925000	0.55904	7.811000	0.86092	2.836000	0.97738	0.655000	0.94253	CCG		0.448	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			11	85	0	0	0	1	0	11	85				
FICD	11153	broad.mit.edu	37	12	108913162	108913162	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108913162G>C	ENST00000552695.1	+	3	1522	c.1287G>C	c.(1285-1287)ctG>ctC	p.L429L	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	429					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TGGACACCCTGCTTTTTGCCA	0.557																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(1285-1287)ctG>ctC		FIC domain containing							84.0	71.0	75.0					12																	108913162		2203	4300	6503	SO:0001819	synonymous_variant	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108913162G>C	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1287G>C	12.37:g.108913162G>C						FICD_ENST00000361549.2_3'UTR	p.L429L	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	1522	+			429					O75406	Silent	SNP	ENST00000552695.1	37	c.1287G>C	CCDS9116.1																																																																																				0.557	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		9	23	0	0	0	1	0	9	23				
NECAP2	55707	broad.mit.edu	37	1	16782322	16782322	+	Missense_Mutation	SNP	C	C	A	rs200946684		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782322C>A	ENST00000337132.5	+	7	767	c.677C>A	c.(676-678)cCt>cAt	p.P226H	NECAP2_ENST00000504551.2_Missense_Mutation_p.P165H|NECAP2_ENST00000443980.2_Intron|NECAP2_ENST00000406746.1_Missense_Mutation_p.P226H|NECAP2_ENST00000457722.2_Missense_Mutation_p.P200H	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	226					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTGCTCCTGTACCCTGG	0.542																																						ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(676-678)cCt>cAt		NECAP endocytosis associated 2							60.0	56.0	57.0					1																	16782322		2203	4300	6503	SO:0001583	missense	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16782322C>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.677C>A	1.37:g.16782322C>A	ENSP00000338746:p.Pro226His					NECAP2_ENST00000457722.2_Missense_Mutation_p.P200H|NECAP2_ENST00000443980.2_Intron|NECAP2_ENST00000406746.1_Missense_Mutation_p.P226H|NECAP2_ENST00000504551.2_Missense_Mutation_p.P165H	p.P226H	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	7	767	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	226					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.677C>A	CCDS173.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169853	0.21621	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000492095	T;T;T;T;T	0.32023	1.51;1.47;1.52;1.51;1.51	5.84	5.84	0.93424	.	.	.	.	.	T	0.33847	0.0877	L	0.29908	0.895	0.27623	N	0.948289	B;B	0.31730	0.337;0.121	B;B	0.42319	0.383;0.192	T	0.31971	-0.9924	9	0.45353	T	0.12	.	15.6387	0.76977	0.0:1.0:0.0:0.0	.	200;226	Q9NVZ3-4;Q9NVZ3	.;NECP2_HUMAN	H	226;165;200;226;226	ENSP00000338746:P226H;ENSP00000424509:P165H;ENSP00000407091:P200H;ENSP00000383925:P226H;ENSP00000427620:P226H	ENSP00000338746:P226H	P	+	2	0	NECAP2	16654909	0.003000	0.15002	0.689000	0.30133	0.044000	0.14063	1.182000	0.32029	2.767000	0.95098	0.561000	0.74099	CCT		0.542	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		4	30	1	0	0.000602214	1	0.000649039	4	30				
TG	7038	broad.mit.edu	37	8	133935689	133935689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133935689C>T	ENST00000220616.4	+	22	4675	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1545	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.D1545D(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGTGTGGACGGCGAGGGGC	0.592																																						ENST00000220616.4																			1	Substitution - coding silent(1)	p.D1545D(1)	prostate(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4633-4635)gaC>gaT		thyroglobulin							90.0	83.0	85.0					8																	133935689		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935689C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4635C>T	8.37:g.133935689C>T						TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.D1545D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4675	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1545			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4635C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.519806	0.00967	.	.	ENSG00000042832	ENST00000519178	.	.	.	4.84	-0.301	0.12800	.	.	.	.	.	T	0.57858	0.2082	.	.	.	0.39764	D	0.972063	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	.	10.8859	0.46965	0.0:0.6492:0.0:0.3508	.	.	.	.	W	65	.	.	R	+	1	2	TG	134004871	0.001000	0.12720	0.008000	0.14137	0.057000	0.15508	-0.367000	0.07553	-0.739000	0.04809	-2.410000	0.00221	CGG		0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		23	42	0	0	0	1	0	23	42				
TRPC6	7225	broad.mit.edu	37	11	101342090	101342090	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101342090C>G	ENST00000344327.3	-	9	2657	c.2233G>C	c.(2233-2235)Gca>Cca	p.A745P	TRPC6_ENST00000532133.1_Missense_Mutation_p.A667P|TRPC6_ENST00000348423.4_Missense_Mutation_p.A629P|TRPC6_ENST00000360497.4_Missense_Mutation_p.A690P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	745					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGCCCTTGCAAATTTCCAC	0.428																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2233-2235)Gca>Cca		transient receptor potential cation channel, subfamily C, member 6							62.0	67.0	65.0					11																	101342090		2202	4298	6500	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101342090C>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2233G>C	11.37:g.101342090C>G	ENSP00000340913:p.Ala745Pro					TRPC6_ENST00000348423.4_Missense_Mutation_p.A629P|TRPC6_ENST00000360497.4_Missense_Mutation_p.A690P|TRPC6_ENST00000532133.1_Missense_Mutation_p.A667P	p.A745P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	9	2657	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	745					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2233G>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189390	0.94923	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.64	5.64	0.86602	.	0.046057	0.85682	D	0.000000	D	0.93736	0.7998	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.975;0.999;0.999	D	0.94216	0.7463	10	0.87932	D	0	-6.4751	19.7691	0.96356	0.0:1.0:0.0:0.0	.	690;629;745	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	P	745;667;629;690	ENSP00000340913:A745P;ENSP00000435574:A667P;ENSP00000343672:A629P;ENSP00000353687:A690P	ENSP00000340913:A745P	A	-	1	0	TRPC6	100847300	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.814000	0.86154	2.658000	0.90341	0.650000	0.86243	GCA		0.428	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		9	55	0	0	0	1	0	9	55				
SLC30A1	7779	broad.mit.edu	37	1	211749578	211749578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211749578G>T	ENST00000367001.4	-	2	805	c.676C>A	c.(676-678)Ctt>Att	p.L226I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	226					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TCTCTGACAAGATTTCCATTC	0.388																																						ENST00000367001.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(676-678)Ctt>Att		solute carrier family 30 (zinc transporter), member 1							38.0	42.0	40.0					1																	211749578		2156	4179	6335	SO:0001583	missense	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211749578G>T	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.676C>A	1.37:g.211749578G>T	ENSP00000355968:p.Leu226Ile						p.L226I	NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	2	805	-			226					Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.676C>A	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245521	0.22796	.	.	ENSG00000170385	ENST00000367001	T	0.65178	-0.14	4.98	4.05	0.47172	.	1.374080	0.05150	N	0.495933	T	0.64327	0.2588	L	0.59912	1.85	0.28617	N	0.908355	B	0.15930	0.015	B	0.22753	0.041	T	0.53830	-0.8383	10	0.33141	T	0.24	-0.8101	14.1056	0.65088	0.0:0.4761:0.5238:0.0	.	226	Q9Y6M5	ZNT1_HUMAN	I	226	ENSP00000355968:L226I	ENSP00000355968:L226I	L	-	1	0	SLC30A1	209816201	1.000000	0.71417	0.987000	0.45799	0.907000	0.53573	1.837000	0.39201	1.058000	0.40530	0.555000	0.69702	CTT		0.388	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			27	44	1	0	3.73808e-20	1	4.90194e-20	27	44				
LLGL1	3996	broad.mit.edu	37	17	18140194	18140194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18140194C>T	ENST00000316843.4	+	13	1648	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	518					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTGGCGTGCAGAAGGTTGC	0.612																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1552-1554)Cag>Tag		lethal giant larvae homolog 1 (Drosophila)							66.0	51.0	56.0					17																	18140194		2203	4300	6503	SO:0001587	stop_gained	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18140194C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1552C>T	17.37:g.18140194C>T	ENSP00000321537:p.Gln518*						p.Q518*	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			13	1648	+	all_neural(463;0.228)		518					A7MBM7|O00188|Q58F11|Q86UK6	Nonsense_Mutation	SNP	ENST00000316843.4	37	c.1552C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	39	7.876032	0.98537	.	.	ENSG00000131899	ENST00000316843	.	.	.	5.97	5.97	0.96955	.	0.054538	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-31.0018	20.0239	0.97514	0.0:1.0:0.0:0.0	.	.	.	.	X	518	.	ENSP00000321537:Q518X	Q	+	1	0	LLGL1	18080919	1.000000	0.71417	0.994000	0.49952	0.899000	0.52679	5.660000	0.68018	2.835000	0.97688	0.591000	0.81541	CAG		0.612	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			7	12	0	0	0	1	0	7	12				
SBF1	6305	broad.mit.edu	37	22	50898014	50898014	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898014G>A	ENST00000390679.3	-	27	3757	c.3573C>T	c.(3571-3573)cgC>cgT	p.R1191R	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Silent_p.R1191R|SBF1_ENST00000348911.6_Silent_p.R1192R			O95248	MTMR5_HUMAN	SET binding factor 1	1191	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGGGAAGCGGTTCTGGC	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3571-3573)cgC>cgT		SET binding factor 1							19.0	22.0	21.0					22																	50898014		2125	4223	6348	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898014G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3573C>T	22.37:g.50898014G>A						SBF1_ENST00000390679.3_Silent_p.R1191R|SBF1_ENST00000348911.6_Silent_p.R1192R	p.R1191R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	27	3756	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1191			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.3573C>T																																																																																					0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				11	18	0	0	0	1	0	11	18				
USP7	7874	broad.mit.edu	37	16	8988700	8988700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8988700G>A	ENST00000344836.4	-	29	3250	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	USP7_ENST00000535863.1_Nonsense_Mutation_p.R919*|USP7_ENST00000381886.4_Nonsense_Mutation_p.R1002*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1018					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATCACTTCTCGAAAATGCTCG	0.592																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(3052-3054)Cga>Tga		ubiquitin specific peptidase 7 (herpes virus-associated)							96.0	91.0	93.0					16																	8988700		2197	4300	6497	SO:0001587	stop_gained	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988700G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3052C>T	16.37:g.8988700G>A	ENSP00000343535:p.Arg1018*					USP7_ENST00000381886.4_Nonsense_Mutation_p.R1002*|USP7_ENST00000535863.1_Nonsense_Mutation_p.R919*	p.R1018*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			29	3250	-			1018					A6NMY8|B7Z815|H0Y3G8	Nonsense_Mutation	SNP	ENST00000344836.4	37	c.3052C>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	40	8.278477	0.98740	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	.	.	.	5.35	-3.57	0.04612	.	0.053759	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	20.23	0.98348	0.0:0.0:0.7093:0.2907	.	.	.	.	X	1018;1026;919	.	ENSP00000343535:R1018X	R	-	1	2	USP7	8896201	1.000000	0.71417	0.955000	0.39395	0.951000	0.60555	1.277000	0.33167	-1.064000	0.03172	0.305000	0.20034	CGA		0.592	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			42	58	0	0	0	1	0	42	58				
TRAPPC8	22878	broad.mit.edu	37	18	29488893	29488893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29488893C>A	ENST00000283351.4	-	7	1281	c.946G>T	c.(946-948)Gat>Tat	p.D316Y	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.D316Y|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D262Y	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	316					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTAGATGATCTGGGCCATCA	0.373																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(946-948)Gat>Tat		trafficking protein particle complex 8							100.0	88.0	92.0					18																	29488893		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29488893C>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.946G>T	18.37:g.29488893C>A	ENSP00000283351:p.Asp316Tyr					TRAPPC8_ENST00000582513.1_Missense_Mutation_p.D316Y|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D262Y	p.D316Y	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			7	1281	-			316					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.946G>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	5.814	0.334529	0.11013	.	.	ENSG00000153339	ENST00000283351	T	0.08807	3.05	5.67	4.8	0.61643	.	0.272209	0.35291	N	0.003305	T	0.19208	0.0461	L	0.53249	1.67	0.40062	D	0.975909	D;B	0.52996	0.957;0.413	P;B	0.53593	0.73;0.226	T	0.01045	-1.1470	10	0.62326	D	0.03	-15.3583	16.889	0.86082	0.0:0.8718:0.1282:0.0	.	316;316	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	Y	316	ENSP00000283351:D316Y	ENSP00000283351:D316Y	D	-	1	0	TRAPPC8	27742891	1.000000	0.71417	0.995000	0.50966	0.085000	0.17905	3.666000	0.54540	1.426000	0.47256	-0.127000	0.14921	GAT		0.373	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		8	42	1	0	0.000157383	1	0.00017284	8	42				
GPR98	84059	broad.mit.edu	37	5	89988577	89988577	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89988577C>T	ENST00000405460.2	+	32	7203	c.7107C>T	c.(7105-7107)tcC>tcT	p.S2369S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2369					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGAAGTTCCTGTGCTAATA	0.443																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7105-7107)tcC>tcT		G protein-coupled receptor 98							83.0	81.0	82.0					5																	89988577		1889	4098	5987	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89988577C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7107C>T	5.37:g.89988577C>T							p.S2369S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	32	7203	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2369					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.7107C>T	CCDS47246.1																																																																																				0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	11	0	0	0	1	0	3	11				
SH3RF2	153769	broad.mit.edu	37	5	145439660	145439660	+	Missense_Mutation	SNP	C	C	T	rs139582730		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145439660C>T	ENST00000511217.1	+	8	1839	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SH3RF2_ENST00000359120.4_Missense_Mutation_p.A596V|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	596					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCACTCCGCGGCCAGCTCC	0.627																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1786-1788)gCg>gTg		SH3 domain containing ring finger 2		C	VAL/ALA	0,4406		0,0,2203	54.0	59.0	57.0		1787	4.9	0.0	5	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SH3RF2	NM_152550.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	596/730	145439660	1,13005	2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439660C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1787C>T	5.37:g.145439660C>T	ENSP00000424497:p.Ala596Val					SH3RF2_ENST00000359120.4_Missense_Mutation_p.A596V|SH3RF2_ENST00000511705.1_3'UTR	p.A596V			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1839	+			596					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1787C>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	5.353	0.250454	0.10130	0.0	1.16E-4	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.18174	2.23;2.23	5.73	4.86	0.63082	.	0.309495	0.31612	N	0.007353	T	0.11067	0.0270	L	0.43152	1.355	0.09310	N	1	P;B	0.41159	0.74;0.083	B;B	0.28465	0.09;0.013	T	0.26189	-1.0110	10	0.35671	T	0.21	-5.1665	7.9017	0.29738	0.0:0.7816:0.0:0.2184	.	87;596	Q8TEC5-2;Q8TEC5	.;SH3R2_HUMAN	V	596	ENSP00000352028:A596V;ENSP00000424497:A596V	ENSP00000352028:A596V	A	+	2	0	SH3RF2	145419853	0.097000	0.21791	0.029000	0.17559	0.006000	0.05464	1.036000	0.30228	1.433000	0.47394	-0.310000	0.09108	GCG		0.627	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		29	31	0	0	0	1	0	29	31				
APBB2	323	broad.mit.edu	37	4	40825774	40825774	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40825774T>G	ENST00000295974.8	-	16	2445	c.1816A>C	c.(1816-1818)Atg>Ctg	p.M606L	APBB2_ENST00000506352.1_Missense_Mutation_p.M585L|APBB2_ENST00000543538.1_Missense_Mutation_p.M58L|APBB2_ENST00000508593.1_Missense_Mutation_p.M607L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.M58L|APBB2_ENST00000502841.1_Missense_Mutation_p.M58L|APBB2_ENST00000513140.1_Missense_Mutation_p.M584L|Y_RNA_ENST00000384466.1_RNA	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	606	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AAAATATCCATTCCTGGGGAC	0.448																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1816-1818)Atg>Ctg		amyloid beta (A4) precursor protein-binding, family B, member 2							83.0	82.0	82.0					4																	40825774		1889	4106	5995	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40825774T>G	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1816A>C	4.37:g.40825774T>G	ENSP00000295974:p.Met606Leu					APBB2_ENST00000543538.1_Missense_Mutation_p.M58L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.M58L|APBB2_ENST00000513140.1_Missense_Mutation_p.M584L|APBB2_ENST00000502841.1_Missense_Mutation_p.M58L|APBB2_ENST00000508593.1_Missense_Mutation_p.M607L|APBB2_ENST00000506352.1_Missense_Mutation_p.M585L	p.M606L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			16	2445	-			606			PID 2.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1816A>C	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.67|14.67	2.603679|2.603679	0.46423|0.46423	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516|ENST00000513611	T;T;T;T;T;T;T;T;T;T;T|.	0.22134|.	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);|.	0.073682|.	0.85682|.	D|.	0.000000|.	T|T	0.77418|0.77418	0.4127|0.4127	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.003;0.002;0.003|.	T|T	0.79001|0.79001	-0.1981|-0.1981	10|5	0.54805|.	T|.	0.06|.	-15.1909|-15.1909	15.9595|15.9595	0.79918|0.79918	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	607;584;606|.	E9PG87;Q92870-2;Q92870|.	.;.;APBB2_HUMAN|.	L|T	606;605;58;584;607;58;585;58;120;58;58;58|575	ENSP00000295974:M606L;ENSP00000439357:M58L;ENSP00000426018:M584L;ENSP00000427211:M607L;ENSP00000425802:M58L;ENSP00000421539:M585L;ENSP00000423765:M58L;ENSP00000426429:M120L;ENSP00000427107:M58L;ENSP00000421751:M58L;ENSP00000421301:M58L|.	ENSP00000295974:M606L|.	M|N	-|-	1|2	0|0	APBB2|APBB2	40520531|40520531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.268000|0.268000	0.26511|0.26511	8.040000|8.040000	0.89188|0.89188	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.448	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		14	23	0	0	0	1	0	14	23				
ACSM1	116285	broad.mit.edu	37	16	20702396	20702396	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20702396T>C	ENST00000307493.4	-	1	182	c.115A>G	c.(115-117)Aga>Gga	p.R39G	ACSM1_ENST00000520010.1_Missense_Mutation_p.R39G|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	39					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCATTCCATCTTGGGGCTCCA	0.512																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(115-117)Aga>Gga		acyl-CoA synthetase medium-chain family member 1							131.0	137.0	135.0					16																	20702396		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20702396T>C	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.115A>G	16.37:g.20702396T>C	ENSP00000301956:p.Arg39Gly					ACSM1_ENST00000520010.1_Missense_Mutation_p.R39G|ACSM1_ENST00000219151.4_5'UTR	p.R39G	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			1	182	-			39					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.115A>G	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	t	10.94	1.492866	0.26774	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.48836	0.8;0.8;0.8	4.69	0.925	0.19424	.	0.449225	0.19166	N	0.121067	T	0.28599	0.0708	N	0.22421	0.69	0.09310	N	0.999998	B	0.22003	0.063	B	0.19666	0.026	T	0.14309	-1.0477	10	0.34782	T	0.22	.	6.9215	0.24391	0.0:0.0855:0.2992:0.6153	.	39	Q08AH1	ACSM1_HUMAN	G	39	ENSP00000301956:R39G;ENSP00000428047:R39G;ENSP00000428830:R39G	ENSP00000301956:R39G	R	-	1	2	ACSM1	20609897	0.001000	0.12720	0.000000	0.03702	0.057000	0.15508	0.436000	0.21526	0.294000	0.22547	0.411000	0.27672	AGA		0.512	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		15	182	0	0	0	1	0	15	182				
HMCN1	83872	broad.mit.edu	37	1	186114999	186114999	+	Missense_Mutation	SNP	G	G	A	rs371379852		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186114999G>A	ENST00000271588.4	+	93	14781	c.14552G>A	c.(14551-14553)cGt>cAt	p.R4851H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4851H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4851	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAGGTGGCCGTCCCTGTCCC	0.537																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14551-14553)cGt>cAt		hemicentin 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	68.0	73.0		14552	3.6	1.0	1		73	0,8600		0,0,4300	no	missense	HMCN1	NM_031935.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	4851/5636	186114999	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114999G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14552G>A	1.37:g.186114999G>A	ENSP00000271588:p.Arg4851His					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4851H	p.R4851H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			93	14781	+			4851			TSP type-1 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14552G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373899	0.24857	2.27E-4	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53206	0.63;0.63	5.49	3.62	0.41486	.	0.108239	0.64402	D	0.000003	T	0.42765	0.1217	M	0.72894	2.215	0.58432	D	0.99999	B	0.34255	0.445	B	0.25759	0.063	T	0.47686	-0.9098	10	0.52906	T	0.07	.	11.0041	0.47624	0.2045:0.0:0.7955:0.0	.	4851	Q96RW7	HMCN1_HUMAN	H	4851	ENSP00000271588:R4851H;ENSP00000356462:R4851H	ENSP00000271588:R4851H	R	+	2	0	HMCN1	184381622	1.000000	0.71417	0.980000	0.43619	0.103000	0.19146	3.850000	0.55918	1.330000	0.45394	-0.198000	0.12761	CGT		0.537	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		23	27	0	0	0	1	0	23	27				
NMNAT3	349565	broad.mit.edu	37	3	139280028	139280028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139280028G>A	ENST00000296202.7	-	6	964	c.583C>T	c.(583-585)Cct>Tct	p.P195S	RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_Missense_Mutation_p.P85S|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.P158S|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_3'UTR|NMNAT3_ENST00000406164.1_Missense_Mutation_p.P158S|NMNAT3_ENST00000413939.2_Missense_Mutation_p.P106S			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	195					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTCTGCACAGGCTCCTTGGCC	0.542																																						ENST00000406824.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						c.(253-255)Cct>Tct		nicotinamide nucleotide adenylyltransferase 3							177.0	133.0	148.0					3																	139280028		2203	4300	6503	SO:0001583	missense	349565				water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr3:139280028G>A	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.583C>T	3.37:g.139280028G>A	ENSP00000296202:p.Pro195Ser					NMNAT3_ENST00000511444.1_3'UTR|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Missense_Mutation_p.P106S|NMNAT3_ENST00000296202.7_Missense_Mutation_p.P195S|NMNAT3_ENST00000406164.1_Missense_Mutation_p.P158S|NMNAT3_ENST00000339837.5_Missense_Mutation_p.P158S|NMNAT3_ENST00000507242.1_5'UTR	p.P85S			Q96T66	NMNA3_HUMAN			7	1447	-			195					B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	ENST00000296202.7	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	G	12.03	1.815136	0.32053	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000413939;ENST00000296202	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.52	1.53	0.23141	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.382749	0.26680	N	0.023041	D	0.92609	0.7652	M	0.66378	2.025	0.33705	D	0.615006	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.86073	0.1539	10	0.19590	T	0.45	-22.0026	4.239	0.10638	0.3865:0.1631:0.4504:0.0	.	106;195	B3KVR6;Q96T66	.;NMNA3_HUMAN	S	158;85;158;106;195	ENSP00000384319:P158S;ENSP00000384684:P85S;ENSP00000340523:P158S;ENSP00000412953:P106S;ENSP00000296202:P195S	ENSP00000296202:P195S	P	-	1	0	NMNAT3	140762718	1.000000	0.71417	0.960000	0.40013	0.885000	0.51271	3.257000	0.51500	0.680000	0.31366	-0.137000	0.14449	CCT		0.542	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		28	33	0	0	0	1	0	28	33				
AMBP	259	broad.mit.edu	37	9	116838953	116838953	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116838953C>A	ENST00000265132.3	-	2	447	c.185G>T	c.(184-186)aGg>aTg	p.R62M		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	62					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CACTGTCATCCTGTCCATGAT	0.597																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(184-186)aGg>aTg		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						133.0	101.0	112.0					9																	116838953		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116838953C>A	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.185G>T	9.37:g.116838953C>A	ENSP00000265132:p.Arg62Met						p.R62M	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			2	447	-			62					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.185G>T	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428611	0.25726	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	D	0.81579	-1.51	3.86	-2.1	0.07210	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.665051	0.15578	N	0.255080	T	0.81465	0.4828	L	0.57536	1.79	0.09310	N	1	D;D	0.69078	0.989;0.997	D;D	0.63113	0.911;0.911	T	0.70454	-0.4867	10	0.56958	D	0.05	.	4.3595	0.11196	0.0:0.3344:0.1761:0.4895	.	3;62	B7Z8R6;P02760	.;AMBP_HUMAN	M	62;3	ENSP00000265132:R62M	ENSP00000265132:R62M	R	-	2	0	AMBP	115878774	0.000000	0.05858	0.018000	0.16275	0.188000	0.23474	-0.326000	0.07965	-0.285000	0.09089	0.561000	0.74099	AGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		17	33	1	0	1.2644e-06	1	1.46818e-06	17	33				
ZNF559	84527	broad.mit.edu	37	19	9453292	9453292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9453292G>A	ENST00000393883.2	+	6	1813	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.A309T|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.A453T|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.A389T|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATGTGGAAAAGCCTTTATTAA	0.403																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1165-1167)Gcc>Acc		zinc finger protein 559							63.0	58.0	60.0					19																	9453292		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453292G>A	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1165G>A	19.37:g.9453292G>A	ENSP00000377461:p.Ala389Thr					ZNF559_ENST00000587557.1_Missense_Mutation_p.A453T|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.A389T|ZNF559_ENST00000538743.1_Missense_Mutation_p.A309T|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron	p.A389T	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1813	+			389					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.1165G>A	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467963	0.26335	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.13778	2.56;2.56	2.22	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10809	0.0264	N	0.25957	0.775	0.09310	N	1	B;B;B	0.34349	0.261;0.437;0.45	B;P;B	0.44422	0.103;0.449;0.245	T	0.39121	-0.9629	9	0.33940	T	0.23	.	2.3997	0.04398	0.2705:0.0:0.3151:0.4144	.	389;389;309	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	T	389;309;389	ENSP00000442832:A309T;ENSP00000377461:A389T	ENSP00000325393:A389T	A	+	1	0	ZNF559	9314292	0.000000	0.05858	0.082000	0.20525	0.909000	0.53808	-2.136000	0.01305	-0.273000	0.09246	0.313000	0.20887	GCC		0.403	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		30	51	0	0	0	1	0	30	51				
AIM1	202	broad.mit.edu	37	6	106978132	106978132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106978132G>T	ENST00000369066.3	+	6	3923	c.3436G>T	c.(3436-3438)Gaa>Taa	p.E1146*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGATACTGAAGAAATGCAGGG	0.328																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3436-3438)Gaa>Taa		absent in melanoma 1							169.0	159.0	162.0					6																	106978132		2203	4300	6503	SO:0001587	stop_gained	202						sugar binding	g.chr6:106978132G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3436G>T	6.37:g.106978132G>T	ENSP00000358062:p.Glu1146*						p.E1146*	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	6	3923	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1146			Beta/gamma crystallin 'Greek key' 3.		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	c.3436G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	47	13.210564	0.99727	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7554	0.91830	0.0:0.0:1.0:0.0	.	.	.	.	X	1146	.	ENSP00000358062:E1146X	E	+	1	0	AIM1	107084825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.426000	0.82243	0.563000	0.77884	GAA		0.328	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			8	121	1	0	0.00621372	1	0.00652201	8	121				
INVS	27130	broad.mit.edu	37	9	103054731	103054731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103054731G>A	ENST00000262457.2	+	14	2377	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	INVS_ENST00000541287.1_Missense_Mutation_p.G635D|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	731					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGACAGCTGGCGATGAGCGG	0.577																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2191-2193)gGc>gAc		inversin							68.0	57.0	61.0					9																	103054731		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103054731G>A	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2192G>A	9.37:g.103054731G>A	ENSP00000262457:p.Gly731Asp					INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.G635D	p.G731D	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			14	2377	+		Acute lymphoblastic leukemia(62;0.056)	731					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.2192G>A	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467520	0.26335	.	.	ENSG00000119509	ENST00000262457;ENST00000541287	T;T	0.39787	1.06;1.06	5.02	0.919	0.19392	.	0.633925	0.16392	N	0.216440	T	0.29223	0.0727	L	0.27053	0.805	0.09310	N	1	P;B	0.38504	0.634;0.002	B;B	0.41894	0.369;0.003	T	0.12941	-1.0528	10	0.54805	T	0.06	.	5.3549	0.16055	0.1811:0.318:0.501:0.0	.	635;731	F5GZH2;Q9Y283	.;INVS_HUMAN	D	731;635	ENSP00000262457:G731D;ENSP00000444454:G635D	ENSP00000262457:G731D	G	+	2	0	INVS	102094552	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	0.101000	0.15251	0.273000	0.22049	-0.181000	0.13052	GGC		0.577	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		8	36	0	0	0	1	0	8	36				
GGH	8836	broad.mit.edu	37	8	63948219	63948219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:63948219C>T	ENST00000260118.6	-	2	622	c.220G>A	c.(220-222)Gta>Ata	p.V74I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	74	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	TCATACCTTACTGGTACAACT	0.393																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(220-222)Gta>Ata		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						92.0	89.0	90.0					8																	63948219		2203	4300	6503	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63948219C>T	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.220G>A	8.37:g.63948219C>T	ENSP00000260118:p.Val74Ile						p.V74I	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			2	622	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	74			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.220G>A	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223744	0.09863	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.39592	1.07	6.11	-7.06	0.01568	.	0.490351	0.25795	N	0.028242	T	0.09774	0.0240	N	0.00514	-1.41	0.28470	N	0.915473	B	0.06786	0.001	B	0.08055	0.003	T	0.20338	-1.0278	10	0.02654	T	1	.	17.417	0.87503	0.0:0.687:0.0:0.313	.	74	Q92820	GGH_HUMAN	I	74;35	ENSP00000260118:V74I	ENSP00000260118:V74I	V	-	1	0	GGH	64110773	0.164000	0.22935	0.808000	0.32385	0.830000	0.47004	-1.094000	0.03359	-1.273000	0.02424	0.609000	0.83330	GTA		0.393	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			13	54	0	0	0	1	0	13	54				
ZNF75D	7626	broad.mit.edu	37	X	134424994	134424994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134424994A>G	ENST00000370766.3	-	6	3473	c.764T>C	c.(763-765)cTt>cCt	p.L255P	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.L160P	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	255	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTCTTCTCAAGAGGATTCAA	0.358																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(763-765)cTt>cCt		zinc finger protein 75D							123.0	115.0	117.0					X																	134424994		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134424994A>G	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.764T>C	X.37:g.134424994A>G	ENSP00000359802:p.Leu255Pro					ZNF75D_ENST00000370764.1_Missense_Mutation_p.L160P|ZNF75D_ENST00000494295.1_Intron	p.L255P	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			6	3473	-			255			KRAB.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.764T>C	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.569470	0.00895	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.01725	4.67;4.67	2.78	-0.373	0.12516	Krueppel-associated box (4);	3.827380	0.01220	N	0.008077	T	0.00754	0.0025	N	0.00760	-1.21	0.22819	N	0.998692	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44513	-0.9323	10	0.26408	T	0.33	.	1.0026	0.01480	0.1516:0.2254:0.3906:0.2324	.	255;160	P51815;A6NK62	ZN75D_HUMAN;.	P	255;160	ENSP00000359802:L255P;ENSP00000359800:L160P	ENSP00000359800:L160P	L	-	2	0	ZNF75D	134252660	0.000000	0.05858	0.076000	0.20297	0.003000	0.03518	-1.450000	0.02390	-0.192000	0.10432	-0.290000	0.09829	CTT		0.358	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		53	94	0	0	0	1	0	53	94				
ZNF707	286075	broad.mit.edu	37	8	144776283	144776283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144776283C>T	ENST00000532205.1	+	8	1598	c.699C>T	c.(697-699)tgC>tgT	p.C233C	ZNF707_ENST00000418203.2_Silent_p.C233C|ZNF707_ENST00000532158.1_Silent_p.C233C|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Silent_p.C233C|ZNF707_ENST00000358656.4_Silent_p.C233C			Q96C28	ZN707_HUMAN	zinc finger protein 707	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCCCTTCTGCTGCGAGGCCT	0.662																																						ENST00000532205.1																			0				breast(1)	1						c.(697-699)tgC>tgT		zinc finger protein 707							15.0	18.0	17.0					8																	144776283		2116	4231	6347	SO:0001819	synonymous_variant	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776283C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.699C>T	8.37:g.144776283C>T						ZNF707_ENST00000418203.2_Silent_p.C233C|ZNF707_ENST00000358656.4_Silent_p.C233C|ZNF707_ENST00000532158.1_Silent_p.C233C|ZNF707_ENST00000454097.1_Silent_p.C233C	p.C233C			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1598	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		233					A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	c.699C>T	CCDS47932.1																																																																																				0.662	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		5	11	0	0	0	1	0	5	11				
BAZ2B	29994	broad.mit.edu	37	2	160239235	160239235	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160239235G>T	ENST00000392783.2	-	25	4335	c.3840C>A	c.(3838-3840)ccC>ccA	p.P1280P	BAZ2B_ENST00000392782.1_Silent_p.P1244P|BAZ2B_ENST00000355831.2_Silent_p.P1246P|BAZ2B_ENST00000343439.5_Silent_p.P1180P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGTGCCCAAGGGATGCTGCT	0.463																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3838-3840)ccC>ccA		bromodomain adjacent to zinc finger domain, 2B							126.0	123.0	124.0					2																	160239235		2124	4235	6359	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160239235G>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3840C>A	2.37:g.160239235G>T						BAZ2B_ENST00000392782.1_Silent_p.P1244P|BAZ2B_ENST00000343439.5_Silent_p.P1180P|BAZ2B_ENST00000355831.2_Silent_p.P1246P	p.P1280P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			25	4335	-			1280					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.3840C>A	CCDS2209.2																																																																																				0.463	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			4	42	1	0	2.56e-06	1	2.9446e-06	4	42				
ITGB4	3691	broad.mit.edu	37	17	73723542	73723542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73723542C>T	ENST00000200181.3	+	4	407	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.R74W|ITGB4_ENST00000450894.3_Missense_Mutation_p.R74W|ITGB4_ENST00000579662.1_Missense_Mutation_p.R74W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R74W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	74					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCTGCCAGCGGGAGAGCAT	0.652																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(220-222)Cgg>Tgg		integrin, beta 4							22.0	26.0	25.0					17																	73723542		2202	4300	6502	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73723542C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.220C>T	17.37:g.73723542C>T	ENSP00000200181:p.Arg74Trp					ITGB4_ENST00000450894.3_Missense_Mutation_p.R74W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R74W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R74W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.R74W	p.R74W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	407	+	all_cancers(13;1.5e-07)		74					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.220C>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	7.193	0.591989	0.13812	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92805	-3.11;-3.11;-3.11	5.46	2.19	0.27852	Integrin beta subunit, N-terminal (2);	1.988140	0.02391	N	0.079701	D	0.84615	0.5511	N	0.08118	0	0.23519	N	0.997506	B;B;B;B	0.10296	0.003;0.001;0.001;0.001	B;B;B;B	0.09377	0.001;0.002;0.004;0.004	T	0.73652	-0.3915	10	0.56958	D	0.05	.	8.2204	0.31539	0.0:0.4214:0.4809:0.0977	.	74;74;74;74	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	W	74	ENSP00000200181:R74W;ENSP00000344079:R74W;ENSP00000400217:R74W	ENSP00000200181:R74W	R	+	1	2	ITGB4	71235137	0.060000	0.20803	0.905000	0.35620	0.026000	0.11368	2.558000	0.45879	0.645000	0.30675	0.655000	0.94253	CGG		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			10	11	0	0	0	1	0	10	11				
TMCC3	57458	broad.mit.edu	37	12	94976228	94976228	+	Silent	SNP	C	C	T	rs188469783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94976228C>T	ENST00000261226.4	-	2	296	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TMCC3_ENST00000551457.1_Silent_p.P24P	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	55						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGATGCCATCCGGGACATCAA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18314	0.001		0.0	False		,,,				2504	0.0					ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(163-165)ccG>ccA		transmembrane and coiled-coil domain family 3		C		0,4406		0,0,2203	131.0	128.0	129.0		165	-11.8	0.0	12		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMCC3	NM_020698.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		55/478	94976228	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94976228C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.165G>A	12.37:g.94976228C>T						TMCC3_ENST00000551457.1_Silent_p.P24P	p.P55P	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	296	-			55					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.165G>A	CCDS31877.1																																																																																				0.478	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		45	65	0	0	0	1	0	45	65				
GLP2R	9340	broad.mit.edu	37	17	9729552	9729552	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9729552C>T	ENST00000262441.5	+	1	685	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	58					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCTGGTCCTGCTGGTTTCCAT	0.488																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(172-174)Ctg>Ttg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						37.0	39.0	38.0					17																	9729552		2203	4300	6503	SO:0001819	synonymous_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9729552C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.172C>T	17.37:g.9729552C>T						GLP2R_ENST00000574745.1_Intron	p.L58L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			1	685	+			58					Q4VAT3	Silent	SNP	ENST00000262441.5	37	c.172C>T	CCDS11150.1																																																																																				0.488	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			3	29	0	0	0	1	0	3	29				
SLC10A6	345274	broad.mit.edu	37	4	87745020	87745020	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87745020G>A	ENST00000273905.6	-	6	1102	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	319					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TTTTTTCCATGTTTGTTCTTC	0.398																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(955-957)Cat>Tat		solute carrier family 10 (sodium/bile acid cotransporter), member 6							230.0	200.0	210.0					4																	87745020		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87745020G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.955C>T	4.37:g.87745020G>A	ENSP00000273905:p.His319Tyr						p.H319Y	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	6	1102	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	319					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.955C>T	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851256	0.17034	.	.	ENSG00000145283	ENST00000273905	T	0.07021	3.23	5.15	2.25	0.28309	.	0.956772	0.08665	N	0.911781	T	0.07728	0.0194	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37888	-0.9686	10	0.49607	T	0.09	-0.0049	3.2632	0.06856	0.0973:0.1727:0.5518:0.1782	.	319	Q3KNW5	SOAT_HUMAN	Y	319	ENSP00000273905:H319Y	ENSP00000273905:H319Y	H	-	1	0	SLC10A6	87964044	0.020000	0.18652	0.001000	0.08648	0.198000	0.23893	0.987000	0.29603	0.711000	0.32018	0.585000	0.79938	CAT		0.398	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		12	105	0	0	0	1	0	12	105				
BRPF3	27154	broad.mit.edu	37	6	36178260	36178260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178260G>A	ENST00000357641.6	+	6	2387	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	BRPF3_ENST00000339717.7_Missense_Mutation_p.E712K|BRPF3_ENST00000543502.1_Missense_Mutation_p.E712K|BRPF3_ENST00000534694.1_Missense_Mutation_p.E712K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E712K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E712K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	712					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCACCTGCCCGAGTCACCCAA	0.652																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2134-2136)Gag>Aag		bromodomain and PHD finger containing, 3							35.0	40.0	39.0					6																	36178260		2203	4299	6502	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36178260G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2134G>A	6.37:g.36178260G>A	ENSP00000350267:p.Glu712Lys					BRPF3_ENST00000534694.1_Missense_Mutation_p.E712K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E712K|BRPF3_ENST00000543502.1_Missense_Mutation_p.E712K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E712K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E712K	p.E712K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			6	2387	+			712					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2134G>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974220	0.53720	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000394572	T;T;T;T;T;T	0.17854	2.47;2.44;2.46;2.44;2.46;2.25	5.56	5.56	0.83823	.	0.097504	0.64402	D	0.000001	T	0.13030	0.0316	M	0.73962	2.25	0.58432	D	0.999999	P;D;P	0.52996	0.824;0.957;0.923	B;B;B	0.36464	0.118;0.225;0.198	T	0.11916	-1.0568	10	0.32370	T	0.25	.	19.5263	0.95208	0.0:0.0:1.0:0.0	.	712;712;712	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	K	712;712;712;712;712;712;126	ENSP00000350267:E712K;ENSP00000345419:E712K;ENSP00000434501:E712K;ENSP00000445352:E712K;ENSP00000387368:E712K;ENSP00000436504:E712K	ENSP00000345419:E712K	E	+	1	0	BRPF3	36286238	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.999000	0.88496	2.608000	0.88229	0.655000	0.94253	GAG		0.652	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		24	34	0	0	0	1	0	24	34				
MKL2	57496	broad.mit.edu	37	16	14354843	14354843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14354843C>T	ENST00000341243.5	+	15	2809	c.2809C>T	c.(2809-2811)Cca>Tca	p.P937S	MKL2_ENST00000574045.1_Missense_Mutation_p.P898S|MKL2_ENST00000318282.5_Missense_Mutation_p.P898S|MKL2_ENST00000571589.1_Missense_Mutation_p.P948S			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	937					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCACAATGCCAGTGAATAC	0.458																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2842-2844)Cca>Tca		MKL/myocardin-like 2							103.0	108.0	106.0					16																	14354843		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14354843C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2809C>T	16.37:g.14354843C>T	ENSP00000345841:p.Pro937Ser					MKL2_ENST00000574045.1_Missense_Mutation_p.P898S|MKL2_ENST00000318282.5_Missense_Mutation_p.P898S|MKL2_ENST00000341243.5_Missense_Mutation_p.P937S	p.P948S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			17	3014	+			937					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.2842C>T		.	.	.	.	.	.	.	.	.	.	C	24.8	4.570511	0.86542	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77773	-0.2462	9	0.44086	T	0.13	-15.151	18.7281	0.91722	0.0:1.0:0.0:0.0	.	948;898	B4DGT8;Q9ULH7-4	.;.	S	898;937	.	ENSP00000339086:P898S	P	+	1	0	MKL2	14262344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.404000	0.79996	2.674000	0.91012	0.591000	0.81541	CCA		0.458	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		42	59	0	0	0	1	0	42	59				
MKRN2	23609	broad.mit.edu	37	3	12613679	12613679	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12613679C>A	ENST00000170447.7	+	4	586	c.449C>A	c.(448-450)gCc>gAc	p.A150D	MKRN2_ENST00000448482.1_Missense_Mutation_p.A148D|MKRN2_ENST00000411987.1_Missense_Mutation_p.A107D	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	150					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TACCTGGATGCCATCAGGAGT	0.622																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(448-450)gCc>gAc		makorin ring finger protein 2							68.0	69.0	68.0					3																	12613679		2203	4300	6503	SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12613679C>A		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.449C>A	3.37:g.12613679C>A	ENSP00000170447:p.Ala150Asp					MKRN2_ENST00000411987.1_Missense_Mutation_p.A107D|MKRN2_ENST00000448482.1_Missense_Mutation_p.A148D	p.A150D	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			4	586	+			150					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.449C>A	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958806	0.92726	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.30448	2.55;1.53;1.71	5.38	5.38	0.77491	.	0.103814	0.64402	D	0.000003	T	0.56366	0.1980	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.985;0.985	T	0.53711	-0.8400	10	0.51188	T	0.08	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	107;148;150	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	D	150;107;148	ENSP00000170447:A150D;ENSP00000396340:A107D;ENSP00000397983:A148D	ENSP00000170447:A150D	A	+	2	0	MKRN2	12588679	1.000000	0.71417	0.929000	0.37066	0.863000	0.49368	6.247000	0.72411	2.793000	0.96121	0.655000	0.94253	GCC		0.622	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		20	23	1	0	4.96729e-08	1	5.9048e-08	20	23				
C9orf3	84909	broad.mit.edu	37	9	97522193	97522193	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97522193T>C	ENST00000375315.2	+	1	128	c.128T>C	c.(127-129)aTa>aCa	p.I43T	C9orf3_ENST00000277198.2_Missense_Mutation_p.I43T|C9orf3_ENST00000297979.5_Missense_Mutation_p.I43T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	43					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAGGGGACCATAGTGCTTTTC	0.443																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(127-129)aTa>aCa		chromosome 9 open reading frame 3							83.0	83.0	83.0					9																	97522193		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522193T>C	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.128T>C	9.37:g.97522193T>C	ENSP00000364464:p.Ile43Thr					C9orf3_ENST00000277198.2_Missense_Mutation_p.I43T|C9orf3_ENST00000297979.5_Missense_Mutation_p.I43T	p.I43T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	128	+			43					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.128T>C	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861796	0.51482	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.03801	3.8;3.8;3.8	4.68	4.68	0.58851	.	0.126307	0.51477	D	0.000091	T	0.18467	0.0443	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.989;0.999	D;D;P;D	0.68765	0.948;0.96;0.787;0.928	T	0.00304	-1.1832	10	0.87932	D	0	-11.5166	14.5893	0.68351	0.0:0.0:0.0:1.0	.	43;43;43;43	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	43	ENSP00000277198:I43T;ENSP00000297979:I43T;ENSP00000364464:I43T	ENSP00000277198:I43T	I	+	2	0	C9orf3	96562014	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.589000	0.67523	2.093000	0.63338	0.460000	0.39030	ATA		0.443	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		8	58	0	0	0	1	0	8	58				
RYR3	6263	broad.mit.edu	37	15	34123219	34123219	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34123219C>A	ENST00000389232.4	+	86	11460	c.11390C>A	c.(11389-11391)tCt>tAt	p.S3797Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3792Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3797					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTGATGAATCTGGACAGCAC	0.383																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11389-11391)tCt>tAt		ryanodine receptor 3							107.0	98.0	100.0					15																	34123219		1860	4093	5953	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34123219C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11390C>A	15.37:g.34123219C>A	ENSP00000373884:p.Ser3797Tyr					RYR3_ENST00000415757.3_Missense_Mutation_p.S3792Y	p.S3797Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	86	11460	+		all_lung(180;7.18e-09)	3797					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11390C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783880	0.70222	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.66460	-0.21	5.65	5.65	0.86999	RyR/IP3R Homology associated domain (1);	0.208224	0.42682	D	0.000679	T	0.62097	0.2400	L	0.40543	1.245	0.39497	D	0.968143	D;P	0.54964	0.969;0.853	P;P	0.50708	0.558;0.648	T	0.58532	-0.7620	10	0.05436	T	0.98	.	14.7174	0.69280	0.1446:0.8554:0.0:0.0	.	3792;3797	Q15413-2;Q15413	.;RYR3_HUMAN	Y	3797;3796;3793	ENSP00000373884:S3797Y	ENSP00000354735:S3793Y	S	+	2	0	RYR3	31910511	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	3.495000	0.53280	2.941000	0.99782	0.655000	0.94253	TCT		0.383	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			16	23	1	0	1.3612e-06	1	1.57881e-06	16	23				
U2AF1	7307	broad.mit.edu	37	21	44513269	44513269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513269G>A	ENST00000291552.4	-	8	758	c.666C>T	c.(664-666)ggC>ggT	p.G222G	U2AF1_ENST00000459639.1_Silent_p.G149G|U2AF1_ENST00000398137.1_Silent_p.G149G|U2AF1_ENST00000380276.2_Silent_p.G222G|U2AF1_ENST00000486519.1_5'Flank	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	222	Arg/Gly/Ser-rich (RS domain).|Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCTCCCGTccgccgccacctc	0.582			Mis		"""CLL, MDS"""																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(445-447)ggC>ggT		U2 small nuclear RNA auxiliary factor 1							33.0	37.0	36.0					21																	44513269		2203	4300	6503	SO:0001819	synonymous_variant	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44513269G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.666C>T	21.37:g.44513269G>A						U2AF1_ENST00000398137.1_Silent_p.G149G|U2AF1_ENST00000380276.2_Silent_p.G222G|U2AF1_ENST00000291552.4_Silent_p.G222G	p.G149G			Q01081	U2AF1_HUMAN			7	1471	-			222					Q701P4|Q71RF1	Silent	SNP	ENST00000291552.4	37	c.447C>T	CCDS13694.1																																																																																				0.582	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		14	15	0	0	0	1	0	14	15				
RP1L1	94137	broad.mit.edu	37	8	10470315	10470315	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470315G>A	ENST00000382483.3	-	4	1516	c.1293C>T	c.(1291-1293)caC>caT	p.H431H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	431					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGCGGACGTGCTGGGCCA	0.687																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1291-1293)caC>caT		retinitis pigmentosa 1-like 1							29.0	36.0	33.0					8																	10470315		1988	4152	6140	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470315G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1293C>T	8.37:g.10470315G>A							p.H431H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1516	-			431					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.1293C>T	CCDS43708.1																																																																																				0.687	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	39	0	0	0	1	0	9	39				
NUP153	9972	broad.mit.edu	37	6	17624875	17624875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17624875G>A	ENST00000262077.2	-	20	4090	c.4091C>T	c.(4090-4092)aCa>aTa	p.T1364I	NUP153_ENST00000537253.1_Missense_Mutation_p.T1395I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1364					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTTGACACTGTCCCAAAAGT	0.507																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(4090-4092)aCa>aTa		nucleoporin 153kDa							122.0	118.0	119.0					6																	17624875		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17624875G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4091C>T	6.37:g.17624875G>A	ENSP00000262077:p.Thr1364Ile					NUP153_ENST00000537253.1_Missense_Mutation_p.T1395I	p.T1364I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		20	4090	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1364					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.4091C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948099	0.73787	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08102	3.13;3.13	5.49	5.49	0.81192	.	0.122528	0.36815	N	0.002394	T	0.06325	0.0163	L	0.36672	1.1	0.32148	N	0.58457	P;B;B	0.46912	0.886;0.363;0.201	P;B;B	0.45856	0.495;0.109;0.109	T	0.04115	-1.0976	10	0.54805	T	0.06	-1.2478	17.9148	0.88945	0.0:0.0:1.0:0.0	.	1395;1344;1364	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	I	1364;1344;1395	ENSP00000262077:T1364I;ENSP00000444029:T1395I	ENSP00000262077:T1364I	T	-	2	0	NUP153	17732854	0.994000	0.37717	0.982000	0.44146	0.997000	0.91878	6.494000	0.73661	2.746000	0.94184	0.655000	0.94253	ACA		0.507	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			5	68	0	0	0	1	0	5	68				
C10orf88	80007	broad.mit.edu	37	10	124697271	124697271	+	Silent	SNP	G	G	A	rs145403983	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124697271G>A	ENST00000481909.1	-	5	1277	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	351										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCTGACACTCGGTCTTATTTC	0.393													G|||	2	0.000399361	0.0	0.0	5008	,	,		20622	0.002		0.0	False		,,,				2504	0.0					ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(1051-1053)acC>acT		chromosome 10 open reading frame 88							125.0	124.0	125.0					10																	124697271		2203	4298	6501	SO:0001819	synonymous_variant	80007							g.chr10:124697271G>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1053C>T	10.37:g.124697271G>A						C10orf88_ENST00000368891.5_5'UTR	p.T351T	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	5	1277	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	351					Q0P6C6|Q8N597	Silent	SNP	ENST00000481909.1	37	c.1053C>T	CCDS7632.1																																																																																				0.393	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		56	93	0	0	0	1	0	56	93				
TNFSF15	9966	broad.mit.edu	37	9	117555845	117555845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117555845G>T	ENST00000374045.4	-	2	327	c.214C>A	c.(214-216)Cta>Ata	p.L72I	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_5'Flank	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	72		Cleavage.			activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTCCTTTTAGAGCCTATTGG	0.418																																						ENST00000374045.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(214-216)Cta>Ata		tumor necrosis factor (ligand) superfamily, member 15							124.0	102.0	110.0					9																	117555845		2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117555845G>T	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.214C>A	9.37:g.117555845G>T	ENSP00000363157:p.Leu72Ile						p.L72I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN			2	327	-			72				Cleavage.	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.214C>A	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	G	1.557	-0.537603	0.04082	.	.	ENSG00000181634	ENST00000374045	T	0.22743	1.94	5.02	0.727	0.18254	.	3.177560	0.00875	N	0.002067	T	0.13756	0.0333	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	10	0.33141	T	0.24	-21.6502	7.8813	0.29624	0.0:0.2862:0.4284:0.2854	.	72	O95150	TNF15_HUMAN	I	72	ENSP00000363157:L72I	ENSP00000363157:L72I	L	-	1	2	TNFSF15	116595666	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.490000	0.06482	0.022000	0.15160	0.585000	0.79938	CTA		0.418	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		13	89	1	0	9.05144e-12	1	1.1316e-11	13	89				
IL12RB1	3594	broad.mit.edu	37	19	18180427	18180427	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18180427G>T	ENST00000600835.2	-	11	1416	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	IL12RB1_ENST00000593993.2_Missense_Mutation_p.P373H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	373	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGGCCCACAGGCTGCCATTC	0.622																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1117-1119)cCt>cAt		interleukin 12 receptor, beta 1							63.0	71.0	68.0					19																	18180427		2046	4184	6230	SO:0001583	missense	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18180427G>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1118C>A	19.37:g.18180427G>T	ENSP00000470788:p.Pro373His					IL12RB1_ENST00000430026.2_Missense_Mutation_p.P373H|IL12RB1_ENST00000593993.1_Missense_Mutation_p.P373H	p.P373H			P42701	I12R1_HUMAN			11	1421	-			373			Fibronectin type-III 4.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.1118C>A	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763923	0.49574	.	.	ENSG00000096996	ENST00000430026	D	0.82344	-1.6	4.0	-0.814	0.10846	.	0.251710	0.28230	N	0.016117	D	0.82788	0.5113	L	0.55481	1.735	0.40708	D	0.982544	D;D	0.71674	0.998;0.997	P;P	0.61592	0.891;0.781	T	0.78521	-0.2172	10	0.62326	D	0.03	-10.062	3.7668	0.08626	0.3268:0.1848:0.4884:0.0	.	373;373	P42701-2;P42701	.;I12R1_HUMAN	H	373	ENSP00000403103:P373H	ENSP00000403103:P373H	P	-	2	0	IL12RB1	18041427	0.000000	0.05858	0.089000	0.20774	0.081000	0.17604	-1.042000	0.03539	-0.121000	0.11787	0.436000	0.28706	CCT		0.622	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			5	71	1	0	2.0095e-06	1	2.31757e-06	5	71				
H6PD	9563	broad.mit.edu	37	1	9323955	9323955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9323955G>A	ENST00000377403.2	+	5	1705	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	H6PD_ENST00000602477.1_Missense_Mutation_p.G479D	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	468	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		ATCTTCCATGGCCGGAAGAAT	0.602																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1402-1404)gGc>gAc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						87.0	100.0	96.0					1																	9323955		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323955G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1403G>A	1.37:g.9323955G>A	ENSP00000366620:p.Gly468Asp					H6PD_ENST00000602477.1_Missense_Mutation_p.G479D	p.G468D	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1705	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	468			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1403G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	8.600	0.886606	0.17540	.	.	ENSG00000049239	ENST00000377403	D	0.99150	-5.49	5.53	2.14	0.27477	.	0.508381	0.23470	N	0.047831	D	0.96237	0.8773	L	0.41492	1.28	0.35467	D	0.797037	P	0.36712	0.566	B	0.31337	0.128	D	0.95765	0.8804	10	0.56958	D	0.05	-6.4721	9.0246	0.36220	0.1594:0.1364:0.7042:0.0	.	468	O95479	G6PE_HUMAN	D	468	ENSP00000366620:G468D	ENSP00000366620:G468D	G	+	2	0	H6PD	9246542	0.994000	0.37717	0.342000	0.25602	0.330000	0.28571	2.450000	0.44943	0.681000	0.31386	0.561000	0.74099	GGC		0.602	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		61	97	0	0	0	1	0	61	97				
PLA2G1B	5319	broad.mit.edu	37	12	120762744	120762744	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120762744G>T	ENST00000308366.4	-	3	350	c.315C>A	c.(313-315)acC>acA	p.T105T	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Silent_p.T76T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	105					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	TACTGCTACAGGTGATTGCCG	0.468											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	ENST00000308366.4																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(313-315)acC>acA		phospholipase A2, group IB (pancreas)							195.0	173.0	180.0					12																	120762744		2203	4300	6503	SO:0001819	synonymous_variant	5319				actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding	g.chr12:120762744G>T		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.315C>A	12.37:g.120762744G>T			OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506	PLA2G1B_ENST00000549767.1_Silent_p.T76T|PLA2G1B_ENST00000423423.3_Intron	p.T105T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN			3	350	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		105					B2R4H5|Q3KPI1	Silent	SNP	ENST00000308366.4	37	c.315C>A	CCDS9195.1																																																																																				0.468	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			6	82	1	0	0.00116845	1	0.00124821	6	82				
BCAR3	8412	broad.mit.edu	37	1	94048358	94048358	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048358C>A	ENST00000370244.1	-	9	1474	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	BCAR3_ENST00000539242.1_Missense_Mutation_p.D72Y|BCAR3_ENST00000370247.3_Missense_Mutation_p.D305Y|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.D396Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.D396Y	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	396					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTTGACTGTCTGATCCCCTC	0.637																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(1186-1188)Gac>Tac		breast cancer anti-estrogen resistance 3							60.0	57.0	58.0					1																	94048358		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94048358C>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1186G>T	1.37:g.94048358C>A	ENSP00000359264:p.Asp396Tyr					BCAR3_ENST00000370247.3_Missense_Mutation_p.D305Y|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.D396Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.D396Y|BCAR3_ENST00000539242.1_Missense_Mutation_p.D72Y	p.D396Y	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	9	1474	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	396					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.1186G>T	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081084	0.76528	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.971;0.998	T	0.83357	-0.0000	10	0.87932	D	0	-9.4258	17.7436	0.88413	0.0:1.0:0.0:0.0	.	176;396;305	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	Y	305;396;396;396;72	ENSP00000359267:D305Y;ENSP00000260502:D396Y;ENSP00000359264:D396Y;ENSP00000359263:D396Y;ENSP00000441343:D72Y	ENSP00000260502:D396Y	D	-	1	0	BCAR3	93820946	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.126000	0.77201	2.485000	0.83878	0.655000	0.94253	GAC		0.637	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			7	70	1	0	5.18039e-06	1	5.91835e-06	7	70				
PFKFB2	5208	broad.mit.edu	37	1	207240872	207240872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207240872G>A	ENST00000367080.3	+	9	785	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	PFKFB2_ENST00000545806.1_Missense_Mutation_p.V188M|PFKFB2_ENST00000367079.2_Missense_Mutation_p.V221M|PFKFB2_ENST00000411990.2_Missense_Mutation_p.V123M|PFKFB2_ENST00000541914.1_Missense_Mutation_p.V35M	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	221	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGTGATAAACGTGGGCCAGCG	0.428																																						ENST00000367080.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(661-663)Gtg>Atg		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							97.0	93.0	94.0					1																	207240872		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207240872G>A		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.661G>A	1.37:g.207240872G>A	ENSP00000356047:p.Val221Met					PFKFB2_ENST00000367079.2_Missense_Mutation_p.V221M|PFKFB2_ENST00000411990.2_Missense_Mutation_p.V123M|PFKFB2_ENST00000545806.1_Missense_Mutation_p.V188M|PFKFB2_ENST00000541914.1_Missense_Mutation_p.V35M	p.V221M	NM_006212.2	NP_006203.2	O60825	F262_HUMAN			9	785	+	Prostate(682;0.19)		221			6-phosphofructo-2-kinase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.661G>A	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911380	0.92178	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	.	.	.	5.95	5.95	0.96441	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.89917	1.0;0.99;1.0;0.999	D;P;D;D	0.97110	0.966;0.736;1.0;0.95	D	0.84752	0.0757	9	0.87932	D	0	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	35;123;221;221	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	M	123;221;221;188;35	.	ENSP00000356046:V221M	V	+	1	0	PFKFB2	205307495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.824000	0.97209	0.655000	0.94253	GTG		0.428	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			9	80	0	0	0	1	0	9	80				
IFIT2	3433	broad.mit.edu	37	10	91066262	91066262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066262C>A	ENST00000371826.3	+	2	718	c.549C>A	c.(547-549)taC>taA	p.Y183*	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	183					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TAGCAAGCTACCGTCTGGACA	0.507																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(547-549)taC>taA		interferon-induced protein with tetratricopeptide repeats 2							46.0	47.0	47.0					10																	91066262		2017	4204	6221	SO:0001587	stop_gained	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066262C>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.549C>A	10.37:g.91066262C>A	ENSP00000360891:p.Tyr183*					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.Y183*	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	718	+		Colorectal(252;0.0161)	183					Q5T767	Nonsense_Mutation	SNP	ENST00000371826.3	37	c.549C>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107612	0.56291	.	.	ENSG00000119922	ENST00000371826	.	.	.	4.58	1.64	0.23874	.	0.269330	0.30302	U	0.009930	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8231	6.5851	0.22616	0.0:0.4758:0.0:0.5242	.	.	.	.	X	183	.	ENSP00000360891:Y183X	Y	+	3	2	IFIT2	91056242	0.991000	0.36638	0.504000	0.27639	0.116000	0.19942	0.997000	0.29731	0.384000	0.24942	-0.140000	0.14226	TAC		0.507	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		13	31	1	0	0.00010058	1	0.000111121	13	31				
MYH7	4625	broad.mit.edu	37	14	23884263	23884263	+	Missense_Mutation	SNP	C	C	T	rs143362532		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23884263C>T	ENST00000355349.3	-	37	5662	c.5500G>A	c.(5500-5502)Gca>Aca	p.A1834T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1834					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACCGACTCTGCGTTGCGCTTC	0.647																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(5500-5502)Gca>Aca		myosin, heavy chain 7, cardiac muscle, beta		C	THR/ALA	1,4405		0,1,2202	121.0	119.0	120.0		5500	5.4	0.0	14	dbSNP_134	120	0,8600		0,0,4300	no	missense	MYH7	NM_000257.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1834/1936	23884263	1,13005	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884263C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5500G>A	14.37:g.23884263C>T	ENSP00000347507:p.Ala1834Thr						p.A1834T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5662	-	all_cancers(95;2.54e-05)		1834					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5500G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790552	0.16258	2.27E-4	0.0	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.77620	-1.11	5.42	5.42	0.78866	Myosin tail (1);	.	.	.	.	T	0.76842	0.4044	L	0.56199	1.76	0.09310	N	0.999998	B	0.13145	0.007	B	0.12837	0.008	T	0.65232	-0.6218	9	0.45353	T	0.12	.	19.4137	0.94687	0.0:1.0:0.0:0.0	.	1834	P12883	MYH7_HUMAN	T	1834;1839	ENSP00000347507:A1834T	ENSP00000347507:A1834T	A	-	1	0	MYH7	22954103	0.004000	0.15560	0.032000	0.17829	0.041000	0.13682	1.357000	0.34090	2.826000	0.97356	0.563000	0.77884	GCA		0.647	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		34	90	0	0	0	1	0	34	90				
KPRP	448834	broad.mit.edu	37	1	152733255	152733255	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152733255G>T	ENST00000606109.1	+	1	1219	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	KPRP_ENST00000368773.1_Missense_Mutation_p.Q397H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	397	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCACTGCAGCGATGTCCAC	0.602																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1189-1191)caG>caT		keratinocyte proline-rich protein							146.0	142.0	143.0					1																	152733255		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733255G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1191G>T	1.37:g.152733255G>T	ENSP00000475216:p.Gln397His					KPRP_ENST00000606109.1_Missense_Mutation_p.Q397H	p.Q397H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1249	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		397			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1191G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397248	0.42512	.	.	ENSG00000203786	ENST00000368773	T	0.14144	2.53	4.67	0.664	0.17890	.	1.428020	0.04413	N	0.366351	T	0.03011	0.0089	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.43360	-0.9396	10	0.59425	D	0.04	3.4467	3.1468	0.06474	0.2573:0.0:0.4189:0.3237	.	397	Q5T749	KPRP_HUMAN	H	397	ENSP00000357762:Q397H	ENSP00000357762:Q397H	Q	+	3	2	KPRP	150999879	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.344000	0.07780	0.290000	0.22444	0.462000	0.41574	CAG		0.602	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		17	23	1	0	6.94344e-10	1	8.49476e-10	17	23				
CENPO	79172	broad.mit.edu	37	2	25038367	25038367	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25038367C>A	ENST00000380834.2	+	5	761	c.336C>A	c.(334-336)ggC>ggA	p.G112G	CENPO_ENST00000260662.1_Splice_Site_p.G112G|CENPO_ENST00000473706.1_Splice_Site_p.G106G			Q9BU64	CENPO_HUMAN	centromere protein O	112					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCCTCAGGCCTCAGTGGTA	0.473																																						ENST00000380834.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.e5-1		centromere protein O							148.0	130.0	136.0					2																	25038367		2203	4300	6503	SO:0001630	splice_region_variant	79172				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr2:25038367C>A	AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.335-1C>A	2.37:g.25038367C>A						CENPO_ENST00000473706.1_Splice_Site_p.G106_splice|CENPO_ENST00000260662.1_Splice_Site_p.G112_splice	p.G112_splice			Q9BU64	CENPO_HUMAN			5	761	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		112					B2RDC0|D6W536|Q53T55|Q96JV3	Splice_Site	SNP	ENST00000380834.2	37	c.334_splice	CCDS1714.1																																																																																				0.473	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246856.2	NM_024322	Silent	46	58	1	0	2.81731e-22	1	3.71784e-22	46	58				
GOLGB1	2804	broad.mit.edu	37	3	121433774	121433774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121433774C>T	ENST00000340645.5	-	10	1448	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	GOLGB1_ENST00000393667.3_Silent_p.L446L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	441					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTGCAAGGGCAGTCTATTTA	0.323																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1336-1338)ctG>ctA		golgin B1							146.0	149.0	148.0					3																	121433774		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121433774C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1323G>A	3.37:g.121433774C>T						GOLGB1_ENST00000340645.5_Silent_p.L441L	p.L446L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	10	1448	-			441					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.1338G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.685307	0.00745	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.05	2.44	0.29823	.	.	.	.	.	T	0.26666	0.0652	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.21177	-1.0253	4	.	.	.	.	4.9686	0.14103	0.0:0.0968:0.1851:0.7181	.	.	.	.	Y	312	.	.	C	-	2	0	GOLGB1	122916464	0.003000	0.15002	0.007000	0.13788	0.008000	0.06430	0.916000	0.28651	0.360000	0.24265	-0.423000	0.05987	TGC		0.323	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		39	71	0	0	0	1	0	39	71				
ZNF574	64763	broad.mit.edu	37	19	42584573	42584573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42584573C>A	ENST00000600245.1	+	2	2470	c.1815C>A	c.(1813-1815)taC>taA	p.Y605*	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Y695*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Y605*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGGTGAATACCCCTACAAGT	0.647																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1813-1815)taC>taA		zinc finger protein 574							85.0	74.0	78.0					19																	42584573		2203	4300	6503	SO:0001587	stop_gained	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584573C>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1815C>A	19.37:g.42584573C>A	ENSP00000469029:p.Tyr605*					ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Y605*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Y695*	p.Y605*			Q6ZN55	ZN574_HUMAN			2	2470	+		Prostate(69;0.059)	605					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Nonsense_Mutation	SNP	ENST00000600245.1	37	c.1815C>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840038	0.91117	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	.	.	.	5.42	4.38	0.52667	.	0.255473	0.33040	N	0.005352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-25.8775	9.413	0.38503	0.0:0.8343:0.0:0.1657	.	.	.	.	X	695;605;212	.	ENSP00000222339:Y695X	Y	+	3	2	ZNF574	47276413	0.018000	0.18449	1.000000	0.80357	0.837000	0.47467	-0.269000	0.08596	1.274000	0.44362	0.650000	0.86243	TAC		0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		18	30	1	0	3.41278e-10	1	4.19267e-10	18	30				
ABLIM1	3983	broad.mit.edu	37	10	116196050	116196050	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116196050T>C	ENST00000277895.5	-	23	2403	c.2306A>G	c.(2305-2307)aAc>aGc	p.N769S	ABLIM1_ENST00000369253.2_Missense_Mutation_p.N392S|ABLIM1_ENST00000533213.2_Missense_Mutation_p.N709S|ABLIM1_ENST00000369252.4_Missense_Mutation_p.N709S|ABLIM1_ENST00000369266.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000392952.3_Missense_Mutation_p.N446S	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	769	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCATGTCGTTGCGTCTCCA	0.453																																						ENST00000533213.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(2125-2127)aAc>aGc		actin binding LIM protein 1							165.0	147.0	153.0					10																	116196050		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116196050T>C	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.2306A>G	10.37:g.116196050T>C	ENSP00000277895:p.Asn769Ser					ABLIM1_ENST00000369266.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000392952.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000277895.5_Missense_Mutation_p.N769S|ABLIM1_ENST00000369252.4_Missense_Mutation_p.N709S|ABLIM1_ENST00000369253.2_Missense_Mutation_p.N392S	p.N709S			O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	23	2427	-		Colorectal(252;0.0373)|Breast(234;0.231)	769					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.2126A>G	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.9|29.9	5.048217|5.048217	0.93740|0.93740	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253|ENST00000392955	T;T;T;T|.	0.39406|.	1.23;1.08;1.21;1.08|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Villin headpiece (5);|.	0.047135|.	0.85682|.	D|.	0.000000|.	T|T	0.71617|0.71617	0.3361|0.3361	M|M	0.64404|0.64404	1.975|1.975	0.53005|0.53005	D|D	0.999967|0.999967	P;P;D;D|.	0.69078|.	0.76;0.879;0.997;0.967|.	B;P;D;P|.	0.70935|.	0.406;0.796;0.971;0.785|.	T|T	0.70630|0.70630	-0.4819|-0.4819	10|5	0.87932|.	D|.	0|.	.|.	14.9477|14.9477	0.71044|0.71044	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	709;737;769;446|.	F8W8M4;A6NKJ2;O14639;O14639-5|.	.;.;ABLM1_HUMAN;.|.	S|A	769;709;446;392;737;709;837;693;446;693;646;837;521|643	ENSP00000358256:N709S;ENSP00000376679:N446S;ENSP00000433629:N709S;ENSP00000358270:N446S|.	ENSP00000277895:N837S|.	N|T	-|-	2|1	0|0	ABLIM1|ABLIM1	116186040|116186040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.013000|8.013000	0.88655|0.88655	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	AAC|ACG		0.453	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			7	88	0	0	0	1	0	7	88				
CCL26	10344	broad.mit.edu	37	7	75401213	75401213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75401213G>A	ENST00000394905.2	-	3	439	c.182C>T	c.(181-183)gCt>gTt	p.A61V	CCL26_ENST00000005180.4_Missense_Mutation_p.A61V	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	61					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(3)	3						TCACATCACAGCCCGCTGGGA	0.562																																						ENST00000394905.2																			0				lung(3)	3						c.(181-183)gCt>gTt		chemokine (C-C motif) ligand 26							88.0	87.0	87.0					7																	75401213		2203	4300	6503	SO:0001583	missense	10344				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75401213G>A	AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"""Chemokine ligands"", ""Endogenous ligands"""	10625	protein-coding gene	gene with protein product	"""macrophage inflammatory protein 4-alpha"", ""small inducible cytokine A26"", ""CC chemokine IMAC"", ""chemokine N1"", ""thymic stroma chemokine-1"", ""eotaxin-3"""	604697	"""small inducible cytokine subfamily A (Cys-Cys), member 26"""	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.182C>T	7.37:g.75401213G>A	ENSP00000378365:p.Ala61Val					CCL26_ENST00000005180.4_Missense_Mutation_p.A61V	p.A61V	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN			3	439	-			61					A0N0Q5|Q52LV8	Missense_Mutation	SNP	ENST00000394905.2	37	c.182C>T	CCDS5578.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448373	0.26074	.	.	ENSG00000006606	ENST00000005180;ENST00000394905	T;T	0.08282	3.11;3.11	3.61	0.444	0.16592	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.281525	0.25101	N	0.033136	T	0.23532	0.0569	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.79108	0.992	T	0.02789	-1.1110	9	0.87932	D	0	.	11.0778	0.48043	0.0:0.5487:0.4513:0.0	.	61	Q9Y258	CCL26_HUMAN	V	61	ENSP00000005180:A61V;ENSP00000378365:A61V	ENSP00000005180:A61V	A	-	2	0	CCL26	75239149	0.011000	0.17503	0.056000	0.19401	0.031000	0.12232	0.008000	0.13197	-0.015000	0.14150	0.400000	0.26472	GCT		0.562	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344900.1	NM_006072		7	83	0	0	0	1	0	7	83				
TLN2	83660	broad.mit.edu	37	15	63017291	63017291	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63017291T>C	ENST00000561311.1	+	26	3473	c.3243T>C	c.(3241-3243)ctT>ctC	p.L1081L	TLN2_ENST00000306829.6_Silent_p.L1081L			Q9Y4G6	TLN2_HUMAN	talin 2	1081	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAAGCCACTTCCAGGGGAAA	0.493																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3241-3243)ctT>ctC		talin 2							51.0	52.0	52.0					15																	63017291		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63017291T>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3243T>C	15.37:g.63017291T>C						TLN2_ENST00000306829.6_Silent_p.L1081L	p.L1081L			Q9Y4G6	TLN2_HUMAN			26	3473	+			1081			Ala-rich.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.3243T>C	CCDS32261.1																																																																																				0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			14	22	0	0	0	1	0	14	22				
PCNXL2	80003	broad.mit.edu	37	1	233134179	233134179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233134179C>T	ENST00000258229.9	-	32	5843	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1870						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAATCCTTCCGCATCCTGTG	0.582																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5608-5610)cGg>cAg		pecanex-like 2 (Drosophila)							47.0	47.0	47.0					1																	233134179		1976	4164	6140	SO:0001583	missense	80003					integral to membrane		g.chr1:233134179C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5609G>A	1.37:g.233134179C>T	ENSP00000258229:p.Arg1870Gln					PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522Q	p.R1870Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			32	5843	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1870					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.5609G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718565	0.89205	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26810	1.71;2.85	5.65	3.75	0.43078	.	0.106968	0.64402	D	0.000009	T	0.28200	0.0696	L	0.41906	1.305	0.80722	D	1	D;D	0.61697	0.987;0.99	P;P	0.50405	0.64;0.496	T	0.02885	-1.1098	10	0.54805	T	0.06	.	10.6376	0.45573	0.1338:0.7976:0.0:0.0686	.	1870;522	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	Q	522;1870	ENSP00000340759:R522Q;ENSP00000258229:R1870Q	ENSP00000258229:R1870Q	R	-	2	0	PCNXL2	231200802	0.993000	0.37304	0.972000	0.41901	0.664000	0.39144	3.054000	0.49908	1.514000	0.48869	0.563000	0.77884	CGG		0.582	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		18	25	0	0	0	1	0	18	25				
PHIP	55023	broad.mit.edu	37	6	79657341	79657341	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79657341C>A	ENST00000275034.4	-	36	4372	c.4205G>T	c.(4204-4206)aGg>aTg	p.R1402M	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1402	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTATATACCCTTGATCTTTT	0.303																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e36+1		pleckstrin homology domain interacting protein							96.0	95.0	95.0					6																	79657341		2203	4300	6503	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79657341C>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4206+1G>T	6.37:g.79657341C>A						PHIP_ENST00000479165.1_5'UTR	p.R1402_splice	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	36	4372	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1402			Bromo 2.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	37	c.4206_splice	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397608	0.83120	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.30714	1.52	4.93	4.93	0.64822	Bromodomain (6);	0.064393	0.64402	D	0.000005	T	0.35422	0.0931	M	0.71296	2.17	0.80722	D	1	P;P	0.49358	0.923;0.923	P;P	0.50352	0.638;0.638	T	0.11518	-1.0584	9	.	.	.	-12.2863	17.4832	0.87680	0.0:1.0:0.0:0.0	.	1402;1402	A7J992;Q8WWQ0	.;PHIP_HUMAN	M	1402;128	ENSP00000275034:R1402M	.	R	-	2	0	PHIP	79714060	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.627000	0.61276	2.422000	0.82143	0.561000	0.74099	AGG		0.303	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Missense_Mutation	15	29	1	0	1.45105e-14	1	1.85325e-14	15	29				
SLC1A2	6506	broad.mit.edu	37	11	35339032	35339032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35339032G>A	ENST00000278379.3	-	2	331	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC1A2_ENST00000395753.1_Nonsense_Mutation_p.R8*|SLC1A2_ENST00000395750.1_Nonsense_Mutation_p.R8*|SLC1A2_ENST00000606205.1_Nonsense_Mutation_p.R17*	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	17					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCGTGCATTCGCACTTCCACC	0.562																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(49-51)Cga>Tga		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						194.0	198.0	197.0					11																	35339032		2202	4298	6500	SO:0001587	stop_gained	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35339032G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.49C>T	11.37:g.35339032G>A	ENSP00000278379:p.Arg17*					SLC1A2_ENST00000606205.1_Nonsense_Mutation_p.R17*|SLC1A2_ENST00000395750.1_Nonsense_Mutation_p.R8*|SLC1A2_ENST00000395753.1_Nonsense_Mutation_p.R8*	p.R17*	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		2	331	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	17					B4DQE9|Q14417|Q541G6|U3KQQ4	Nonsense_Mutation	SNP	ENST00000278379.3	37	c.49C>T	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931730	0.92389	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	.	.	.	5.05	5.05	0.67936	.	0.125811	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5313	14.8962	0.70646	0.0:0.0:0.8564:0.1436	.	.	.	.	X	17;8;8;13	.	ENSP00000278379:R17X	R	-	1	2	SLC1A2	35295608	1.000000	0.71417	0.993000	0.49108	0.853000	0.48598	4.637000	0.61346	2.342000	0.79632	0.555000	0.69702	CGA		0.562	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		19	182	0	0	0	1	0	19	182				
SFMBT2	57713	broad.mit.edu	37	10	7409762	7409762	+	Silent	SNP	C	C	T	rs34359069		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7409762C>T	ENST00000361972.4	-	4	375	c.285G>A	c.(283-285)acG>acA	p.T95T	SFMBT2_ENST00000397160.3_Silent_p.T95T|SFMBT2_ENST00000397167.1_Silent_p.T95T|SFMBT2_ENST00000379713.3_Silent_p.T95T|SFMBT2_ENST00000379711.2_Silent_p.T95T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	95					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGTAATGATCGTGGCCACCC	0.542																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(283-285)acG>acA		Scm-like with four mbt domains 2							89.0	86.0	87.0					10																	7409762		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409762C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.285G>A	10.37:g.7409762C>T						SFMBT2_ENST00000379711.2_Silent_p.T95T|SFMBT2_ENST00000397167.1_Silent_p.T95T|SFMBT2_ENST00000397160.3_Silent_p.T95T|SFMBT2_ENST00000379713.3_Silent_p.T95T	p.T95T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			4	375	-			95					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.285G>A	CCDS31138.1																																																																																				0.542	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		18	22	0	0	0	1	0	18	22				
DPYD	1806	broad.mit.edu	37	1	97771825	97771825	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:97771825C>T	ENST00000370192.3	-	17	2187	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	696					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CCTAACCCAGCGGCAGATGTT	0.428																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2086-2088)cGc>cAc		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						144.0	143.0	143.0					1																	97771825		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771825C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2087G>A	1.37:g.97771825C>T	ENSP00000359211:p.Arg696His					DPYD-AS1_ENST00000422980.1_RNA	p.R696H	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2187	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	696					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2087G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232424	0.79688	.	.	ENSG00000188641	ENST00000370192	T	0.75938	-0.98	6.08	5.17	0.71159	Aldolase-type TIM barrel (1);	0.127095	0.56097	D	0.000025	D	0.83408	0.5248	M	0.90309	3.105	0.80722	D	1	D	0.71674	0.998	P	0.55545	0.778	D	0.87741	0.2585	10	0.72032	D	0.01	-12.1698	17.5512	0.87876	0.0:0.8764:0.1236:0.0	.	696	Q12882	DPYD_HUMAN	H	696	ENSP00000359211:R696H	ENSP00000359211:R696H	R	-	2	0	DPYD	97544413	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.458000	0.80787	1.570000	0.49709	0.591000	0.81541	CGC		0.428	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		54	194	0	0	0	1	0	54	194				
ZNF503	84858	broad.mit.edu	37	10	77158794	77158794	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77158794G>T	ENST00000372524.4	-	2	2140	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.L552M	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	552					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TAGCCCGACAGCAGTTTGTCT	0.687																																						ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(1654-1656)Ctg>Atg		zinc finger protein 503							23.0	20.0	21.0					10																	77158794		2199	4297	6496	SO:0001583	missense	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158794G>T	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1654C>A	10.37:g.77158794G>T	ENSP00000361602:p.Leu552Met					RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.L552M	p.L552M	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			2	2140	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		552					Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.1654C>A	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611392	0.46631	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.53423	0.62;0.62	4.6	2.74	0.32292	.	0.069023	0.56097	D	0.000025	T	0.50086	0.1595	L	0.60455	1.87	0.42134	D	0.991489	D	0.54397	0.966	P	0.49665	0.618	T	0.50972	-0.8764	10	0.52906	T	0.07	-12.153	10.7659	0.46292	0.1545:0.0:0.8455:0.0	.	552	Q96F45	ZN503_HUMAN	M	552;552;515	ENSP00000361602:L552M;ENSP00000438988:L552M	ENSP00000361594:L515M	L	-	1	2	ZNF503	76828800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.488000	0.35551	0.553000	0.29044	0.643000	0.83706	CTG		0.687	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		15	9	1	0	3.32936e-07	1	3.90007e-07	15	9				
MUC4	4585	broad.mit.edu	37	3	195517305	195517305	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195517305A>G	ENST00000463781.3	-	2	1605	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S382S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	387					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TATTGCTGACACTGGAAGGGG	0.453																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1144-1146)agT>agC		mucin 4, cell surface associated							214.0	195.0	201.0					3																	195517305		1942	4144	6086	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517305A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1146T>C	3.37:g.195517305A>G						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S382S|MUC4_ENST00000346145.4_Intron	p.S382S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1605	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	387					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1146T>C	CCDS54700.1																																																																																				0.453	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		55	87	0	0	0	1	0	55	87				
TRPM8	79054	broad.mit.edu	37	2	234878920	234878920	+	Silent	SNP	C	C	T	rs201851046		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234878920C>T	ENST00000324695.4	+	17	2245	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	735					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCCCCCTTCGTGGTCTTCT	0.547																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2203-2205)ttC>ttT		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)	C		1,4405	2.1+/-5.4	0,1,2202	458.0	386.0	411.0		2205	-3.0	0.9	2		411	0,8600		0,0,4300	no	coding-synonymous	TRPM8	NM_024080.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		735/1105	234878920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234878920C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2205C>T	2.37:g.234878920C>T						TRPM8_ENST00000433712.2_Intron	p.F735F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2245	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	735					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2205C>T	CCDS33407.1																																																																																				0.547	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		125	149	0	0	0	1	0	125	149				
SNHG14	104472715	broad.mit.edu	37	15	25481278	25481278	+	RNA	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25481278T>G	ENST00000453082.2	+	0	1934				SNORD115-37_ENST00000363768.1_RNA|SNORD115-35_ENST00000365122.1_RNA|SNORD115-36_ENST00000365629.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AGGTGATGACTTAAAAATCAT	0.478																																						ENST00000453082.2																			0																				402.0	418.0	413.0					15																	25481278		876	1989	2865			0							g.chr15:25481278T>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25481278T>G						SNORD115-36_ENST00000365629.1_RNA		NR_003343.1						0	1934	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.478	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			8	279	0	0	0	1	0	8	279				
BTLA	151888	broad.mit.edu	37	3	112198487	112198487	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112198487T>C	ENST00000334529.5	-	2	420	c.218A>G	c.(217-219)aAg>aGg	p.K73R	BTLA_ENST00000383680.4_Missense_Mutation_p.K73R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	73	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCCATTGAGCTTGCACCAAGT	0.388																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(217-219)aAg>aGg		B and T lymphocyte associated							170.0	158.0	162.0					3																	112198487		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112198487T>C	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.218A>G	3.37:g.112198487T>C	ENSP00000333919:p.Lys73Arg					BTLA_ENST00000383680.4_Missense_Mutation_p.K73R	p.K73R	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN			2	420	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	73			Ig-like V-type.		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.218A>G	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431017	0.83776	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.17213	2.29;2.29	3.27	3.27	0.37495	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.298829	0.24249	N	0.040184	T	0.30324	0.0761	L	0.52573	1.65	0.35387	D	0.790386	D;D	0.76494	0.982;0.999	D;D	0.91635	0.988;0.999	T	0.26815	-1.0092	10	0.37606	T	0.19	-16.4098	8.28	0.31896	0.0:0.0:0.0:1.0	.	73;73	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	R	73	ENSP00000333919:K73R;ENSP00000373178:K73R	ENSP00000333919:K73R	K	-	2	0	BTLA	113681177	0.975000	0.34042	0.985000	0.45067	0.906000	0.53458	2.001000	0.40825	1.740000	0.51718	0.533000	0.62120	AAG		0.388	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		9	110	0	0	0	1	0	9	110				
FBXW5	54461	broad.mit.edu	37	9	139835906	139835906	+	Silent	SNP	G	G	A	rs112814747	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139835906G>A	ENST00000325285.3	-	8	1333	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	418					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCTGTTCACGTACAGGTACC	0.682													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13672	0.0		0.001	False		,,,				2504	0.0					ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1252-1254)taC>taT		F-box and WD repeat domain containing 5		G		0,4402		0,0,2201	29.0	32.0	31.0		1254	-5.1	0.9	9	dbSNP_132	31	9,8583	6.4+/-24.3	0,9,4287	no	coding-synonymous	FBXW5	NM_018998.2		0,9,6488	AA,AG,GG		0.1047,0.0,0.0693		418/567	139835906	9,12985	2201	4296	6497	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139835906G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1254C>T	9.37:g.139835906G>A						FBXW5_ENST00000483559.1_5'UTR	p.Y418Y	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	8	1333	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	418					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.1254C>T	CCDS7014.1																																																																																				0.682	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		9	21	0	0	0	1	0	9	21				
C10orf12	26148	broad.mit.edu	37	10	98743924	98743924	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98743924A>T	ENST00000286067.2	+	1	2884	c.2777A>T	c.(2776-2778)aAa>aTa	p.K926I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	926										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGCGCTTGAAAAAGCACTTG	0.473																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(2776-2778)aAa>aTa		chromosome 10 open reading frame 12							60.0	65.0	63.0					10																	98743924		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743924A>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2777A>T	10.37:g.98743924A>T	ENSP00000286067:p.Lys926Ile						p.K926I	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2884	+		Colorectal(252;0.172)	926					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2777A>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833266	0.71258	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.14391	2.51	5.71	5.71	0.89125	.	0.084917	0.46442	D	0.000286	T	0.35248	0.0925	L	0.56769	1.78	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	T	0.04664	-1.0935	10	0.87932	D	0	-14.9075	15.9936	0.80225	1.0:0.0:0.0:0.0	.	926	Q8N655	CJ012_HUMAN	I	926;760	ENSP00000286067:K926I	ENSP00000286067:K926I	K	+	2	0	C10orf12	98733914	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.938000	0.92943	2.195000	0.70347	0.533000	0.62120	AAA		0.473	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		9	107	0	0	0	1	0	9	107				
TRBV6-1	28606	broad.mit.edu	37	7	142028398	142028398	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142028398G>T	ENST00000390353.2	+	0	189									T cell receptor beta variable 6-1																		AGTGTGCCCAGGATATGAACC	0.498																																						ENST00000390353.2																			0																				149.0	138.0	141.0					7																	142028398		1948	4162	6110			0							g.chr7:142028398G>T	X61446		7q34	2012-02-07			ENSG00000211706	ENSG00000211706		"""T cell receptors / TRB locus"""	12226	other	T cell receptor gene	"""T-cell receptor beta chain V region C5 -like"""					8650574	Standard	NG_001333		Approved	TRBV61, TCRBV13S3, TCRBV6S1			OTTHUMG00000158531		7.37:g.142028398G>T														0	189	+									RNA	SNP	ENST00000390353.2	37																																																																																						0.498	TRBV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351237.1	NG_001333		10	155	1	0	4.68919e-08	1	5.58064e-08	10	155				
FSTL5	56884	broad.mit.edu	37	4	162402263	162402263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162402263G>A	ENST00000306100.5	-	13	1953	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FSTL5_ENST00000536695.1_Missense_Mutation_p.A505V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A496V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A505V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	506						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACATTAACAGCTGATGCCCA	0.383																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1516-1518)gCt>gTt		follistatin-like 5							186.0	178.0	181.0					4																	162402263		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162402263G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1517C>T	4.37:g.162402263G>A	ENSP00000305334:p.Ala506Val					FSTL5_ENST00000536695.1_Missense_Mutation_p.A505V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A496V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A505V	p.A506V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	13	1953	-	all_hematologic(180;0.24)		506					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1517C>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299666	0.95574	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	D;D;T;D	0.83075	-1.68;-1.66;-1.46;-1.66	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.996	D	0.92495	0.6003	10	0.87932	D	0	.	18.3987	0.90509	0.0:0.0:1.0:0.0	.	496;505;506	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	V	506;505;496;505	ENSP00000305334:A506V;ENSP00000368462:A505V;ENSP00000389270:A496V;ENSP00000440409:A505V	ENSP00000305334:A506V	A	-	2	0	FSTL5	162621713	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.179000	0.94861	2.566000	0.86566	0.650000	0.86243	GCT		0.383	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		51	94	0	0	0	1	0	51	94				
SPTAN1	6709	broad.mit.edu	37	9	131371422	131371422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131371422G>T	ENST00000372731.4	+	36	4727	c.4617G>T	c.(4615-4617)caG>caT	p.Q1539H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1539H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1539H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1539					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAAGCCCAGATGATTGAGA	0.478																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(4615-4617)caG>caT		spectrin, alpha, non-erythrocytic 1							117.0	113.0	115.0					9																	131371422		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371422G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4617G>T	9.37:g.131371422G>T	ENSP00000361816:p.Gln1539His					SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1539H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1539H	p.Q1539H			Q13813	SPTA2_HUMAN			36	4730	+			1539					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4617G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216080	0.39201	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51574	0.7;0.7;0.7	5.53	1.96	0.26148	.	0.058821	0.64402	D	0.000001	T	0.39517	0.1081	L	0.39898	1.24	0.58432	D	0.999994	B;B;B	0.31318	0.286;0.273;0.319	B;B;B	0.31869	0.137;0.084;0.137	T	0.24799	-1.0150	10	0.45353	T	0.12	.	14.3175	0.66463	0.275:0.0:0.725:0.0	.	1519;1539;1539	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	1539;1539;1539;1519	ENSP00000350882:Q1539H;ENSP00000361816:Q1539H;ENSP00000361824:Q1539H	ENSP00000350882:Q1539H	Q	+	3	2	SPTAN1	130411243	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.782000	0.38654	0.231000	0.21079	-0.723000	0.03601	CAG		0.478	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	60	1	0	0.217242	1	0.218821	4	60				
MTMR7	9108	broad.mit.edu	37	8	17170828	17170828	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17170828T>C	ENST00000180173.5	-	8	982	c.948A>G	c.(946-948)atA>atG	p.I316M	MTMR7_ENST00000521857.1_Missense_Mutation_p.I316M|MTMR7_ENST00000398099.3_5'Flank	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	316	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTGCATCCATTATGGCTTTAA	0.418																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(946-948)atA>atG		myotubularin related protein 7							104.0	98.0	100.0					8																	17170828		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17170828T>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.948A>G	8.37:g.17170828T>C	ENSP00000180173:p.Ile316Met					MTMR7_ENST00000521857.1_Missense_Mutation_p.I316M	p.I316M	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	8	982	-			316			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.948A>G	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942568	0.53079	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.93659	-3.26;-3.26	4.76	1.98	0.26296	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.051083	0.85682	D	0.000000	D	0.94447	0.8213	M	0.73598	2.24	0.80722	D	1	D;D	0.62365	0.987;0.991	D;D	0.64687	0.921;0.928	D	0.91561	0.5264	10	0.56958	D	0.05	.	4.0899	0.09965	0.2271:0.0:0.4771:0.2958	.	316;316	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	M	316	ENSP00000180173:I316M;ENSP00000429733:I316M	ENSP00000180173:I316M	I	-	3	3	MTMR7	17215199	0.993000	0.37304	0.998000	0.56505	0.948000	0.59901	0.581000	0.23819	0.319000	0.23209	-0.830000	0.03078	ATA		0.418	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		7	53	0	0	0	1	0	7	53				
SLC7A9	11136	broad.mit.edu	37	19	33334843	33334843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33334843G>A	ENST00000023064.4	-	10	1183	c.992C>T	c.(991-993)gCg>gTg	p.A331V	SLC7A9_ENST00000590341.1_Missense_Mutation_p.A331V|SLC7A9_ENST00000587772.1_Missense_Mutation_p.A331V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	331			A -> V (in CSNU; non-classic type I). {ECO:0000269|PubMed:12234283}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTCCCGGCCCGCCACGTAAAT	0.572																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM023752	SLC7A9	M		c.(991-993)gCg>gTg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						55.0	50.0	52.0					19																	33334843		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334843G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.992C>T	19.37:g.33334843G>A	ENSP00000023064:p.Ala331Val					SLC7A9_ENST00000587772.1_Missense_Mutation_p.A331V|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A331V	p.A331V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			10	1183	-	Esophageal squamous(110;0.137)		331		A -> V (in CSNU; non-classic type I).			B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.992C>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998293	0.74818	.	.	ENSG00000021488	ENST00000023064	D	0.90004	-2.6	5.37	5.37	0.77165	Amino acid permease domain (1);	0.050242	0.85682	D	0.000000	D	0.95642	0.8583	H	0.94462	3.54	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59825	0.864;0.864	D	0.96746	0.9550	10	0.87932	D	0	.	18.7093	0.91651	0.0:0.0:1.0:0.0	.	331;331	Q53FY4;P82251	.;BAT1_HUMAN	V	331	ENSP00000023064:A331V	ENSP00000023064:A331V	A	-	2	0	SLC7A9	38026683	1.000000	0.71417	0.315000	0.25238	0.226000	0.24999	8.036000	0.88901	2.519000	0.84933	0.655000	0.94253	GCG		0.572	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			13	7	0	0	0	1	0	13	7				
EHMT1	79813	broad.mit.edu	37	9	140611261	140611261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140611261G>A	ENST00000460843.1	+	3	296	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	EHMT1_ENST00000462484.1_Missense_Mutation_p.R90Q|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R59Q	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	90					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACACTAACTCGGATAGCGGAA	0.527																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(268-270)cGg>cAg		euchromatic histone-lysine N-methyltransferase 1							121.0	121.0	121.0					9																	140611261		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611261G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.269G>A	9.37:g.140611261G>A	ENSP00000417980:p.Arg90Gln					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R59Q|EHMT1_ENST00000462484.1_Missense_Mutation_p.R90Q	p.R90Q	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	296	+	all_cancers(76;0.164)		90					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.269G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	g	17.53	3.412296	0.62511	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.72282	1.4;0.62;-0.64	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000007	D	0.83926	0.5360	M	0.65975	2.015	0.19300	N	0.999979	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.986;0.998;0.997	T	0.76260	-0.3024	10	0.51188	T	0.08	.	20.3051	0.98623	0.0:0.0:1.0:0.0	.	90;59;90	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	Q	59;59;90;90	ENSP00000334476:R59Q;ENSP00000417328:R90Q;ENSP00000417980:R90Q	ENSP00000334476:R59Q	R	+	2	0	EHMT1	139731082	0.998000	0.40836	0.073000	0.20177	0.030000	0.12068	6.619000	0.74219	2.803000	0.96430	0.546000	0.68486	CGG		0.527	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		28	52	0	0	0	1	0	28	52				
DNAH9	1770	broad.mit.edu	37	17	11603079	11603079	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11603079A>G	ENST00000262442.4	+	23	4972	c.4904A>G	c.(4903-4905)aAc>aGc	p.N1635S	DNAH9_ENST00000454412.2_Missense_Mutation_p.N1635S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1635	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTTTGACAACATGGCCAAG	0.458																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4903-4905)aAc>aGc		dynein, axonemal, heavy chain 9							134.0	106.0	115.0					17																	11603079		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11603079A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4904A>G	17.37:g.11603079A>G	ENSP00000262442:p.Asn1635Ser					DNAH9_ENST00000454412.2_Missense_Mutation_p.N1635S	p.N1635S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	23	4972	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1635			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4904A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	2.664	-0.279143	0.05642	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.61627	0.09;0.09	5.45	4.17	0.49024	Dynein heavy chain, domain-2 (1);	0.179648	0.47093	D	0.000241	T	0.32406	0.0828	N	0.11201	0.11	0.80722	D	1	B	0.15141	0.012	B	0.20955	0.032	T	0.19877	-1.0292	10	0.02654	T	1	.	11.3167	0.49396	0.872:0.0:0.128:0.0	.	1635	Q9NYC9	DYH9_HUMAN	S	1635;1635;217	ENSP00000262442:N1635S;ENSP00000414874:N1635S	ENSP00000262442:N1635S	N	+	2	0	DNAH9	11543804	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.855000	0.48333	2.086000	0.62901	0.533000	0.62120	AAC		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		20	31	0	0	0	1	0	20	31				
DCTN5	84516	broad.mit.edu	37	16	23654310	23654310	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23654310T>C	ENST00000300087.2	+	2	234	c.83T>C	c.(82-84)tTg>tCg	p.L28S	PALB2_ENST00000261584.4_5'Flank|DCTN5_ENST00000568272.1_Missense_Mutation_p.L28S|DCTN5_ENST00000568589.1_Missense_Mutation_p.L28S|DCTN5_ENST00000563998.1_Missense_Mutation_p.L28S	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	28					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGTCAGTGTTGTGTGGAAGC	0.473																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.(82-84)tTg>tCg		dynactin 5 (p25)							125.0	114.0	118.0					16																	23654310		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23654310T>C		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.83T>C	16.37:g.23654310T>C	ENSP00000300087:p.Leu28Ser					DCTN5_ENST00000563998.1_Missense_Mutation_p.L28S|DCTN5_ENST00000568589.1_Missense_Mutation_p.L28S|DCTN5_ENST00000568272.1_Missense_Mutation_p.L28S	p.L28S	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	2	234	+			28					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.83T>C	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525068	0.64747	.	.	ENSG00000166847	ENST00000300087	.	.	.	4.96	4.96	0.65561	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.92555	3.32	0.58432	D	0.999999	D	0.76494	0.999	D	0.72075	0.976	D	0.88191	0.2877	9	0.87932	D	0	-7.6039	12.7527	0.57318	0.0:0.0:0.0:1.0	.	28	Q9BTE1	DCTN5_HUMAN	S	28	.	ENSP00000300087:L28S	L	+	2	0	DCTN5	23561811	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.706000	0.74649	1.907000	0.55213	0.449000	0.29647	TTG		0.473	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		8	67	0	0	0	1	0	8	67				
CEP131	22994	broad.mit.edu	37	17	79170554	79170554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79170554G>A	ENST00000269392.4	-	15	2102	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	AZI1_ENST00000575907.1_Nonsense_Mutation_p.Q619*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.Q616*|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000450824.2_Nonsense_Mutation_p.Q616*	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		619					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTCCCTCTGCCGCTGCAGC	0.701																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(1855-1857)Cag>Tag		5-azacytidine induced 1							26.0	24.0	25.0					17																	79170554		2186	4288	6474	SO:0001587	stop_gained	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79170554G>A																												ENST00000269392.4:c.1855C>T	17.37:g.79170554G>A	ENSP00000269392:p.Gln619*					AZI1_ENST00000575907.1_Nonsense_Mutation_p.Q619*|AZI1_ENST00000450824.2_Nonsense_Mutation_p.Q616*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.Q616*	p.Q619*	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		15	2102	-	all_neural(118;0.0804)|Melanoma(429;0.242)		619					A6NHI8|B2RN11|Q96F50	Nonsense_Mutation	SNP	ENST00000269392.4	37	c.1855C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.227795	0.97394	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	.	.	.	4.8	3.81	0.43845	.	0.062472	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-43.7696	14.6296	0.68647	0.0:0.1471:0.8529:0.0	.	.	.	.	X	616;616;619	.	ENSP00000269392:Q619X	Q	-	1	0	AZI1	76785149	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	7.117000	0.77129	1.202000	0.43218	0.313000	0.20887	CAG		0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			3	4	0	0	0	1	0	3	4				
ACOX3	8310	broad.mit.edu	37	4	8418133	8418133	+	Missense_Mutation	SNP	G	G	A	rs373776313		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8418133G>A	ENST00000356406.5	-	2	193	c.116C>T	c.(115-117)aCg>aTg	p.T39M	ACOX3_ENST00000503233.1_Missense_Mutation_p.T39M|ACOX3_ENST00000413009.2_Missense_Mutation_p.T39M	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	39					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTCCCCTTCCGTGAACAGCGC	0.587																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(115-117)aCg>aTg		acyl-CoA oxidase 3, pristanoyl		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	84.0	84.0	84.0		116,116	-3.7	0.0	4		84	0,8600		0,0,4300	no	missense,missense	ACOX3	NM_001101667.1,NM_003501.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	39/625,39/701	8418133	1,13005	2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8418133G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.116C>T	4.37:g.8418133G>A	ENSP00000348775:p.Thr39Met					ACOX3_ENST00000503233.1_Missense_Mutation_p.T39M|ACOX3_ENST00000413009.2_Missense_Mutation_p.T39M	p.T39M	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			2	193	-			39					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.116C>T	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	7.462	0.644896	0.14451	2.27E-4	0.0	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.43294	0.95;0.95;0.95	3.87	-3.73	0.04398	Acyl-CoA dehydrogenase/oxidase (1);	0.699357	0.12410	N	0.471343	T	0.21186	0.0510	N	0.22421	0.69	0.09310	N	1	P;B	0.42409	0.779;0.312	B;B	0.32624	0.149;0.048	T	0.10451	-1.0629	10	0.49607	T	0.09	-3.528	9.8963	0.41320	0.293:0.6214:0.0856:0.0	.	39;39	O15254-2;O15254	.;ACOX3_HUMAN	M	39	ENSP00000413994:T39M;ENSP00000348775:T39M;ENSP00000421625:T39M	ENSP00000348775:T39M	T	-	2	0	ACOX3	8469033	0.083000	0.21467	0.010000	0.14722	0.294000	0.27393	1.148000	0.31614	-0.802000	0.04421	-1.121000	0.02013	ACG		0.587	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			22	61	0	0	0	1	0	22	61				
FBN2	2201	broad.mit.edu	37	5	127674749	127674749	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127674749G>A	ENST00000508053.1	-	32	4322	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	FBN2_ENST00000262464.4_Silent_p.I1116I|FBN2_ENST00000508989.1_Silent_p.I1083I|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1116	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCACTCGTCGATGTCTAATT	0.458																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3346-3348)atC>atT		fibrillin 2							73.0	67.0	69.0					5																	127674749		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674749G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3348C>T	5.37:g.127674749G>A						FBN2_ENST00000508989.1_Silent_p.I1083I|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.I1116I	p.I1116I			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	32	4322	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1116			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3348C>T	CCDS34222.1																																																																																				0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		28	36	0	0	0	1	0	28	36				
GTF2A2	2958	broad.mit.edu	37	15	59944473	59944473	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59944473C>T	ENST00000396060.2	-	2	185	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GTF2A2_ENST00000396064.3_Missense_Mutation_p.A2T|GTF2A2_ENST00000396063.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000396061.1_Missense_Mutation_p.A2T|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000484743.1_Missense_Mutation_p.A2T	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	2					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						AACTGATATGCCATGGCTTAG	0.318																																						ENST00000396060.2																			0				central_nervous_system(2)|kidney(2)|lung(1)	5						c.(4-6)Gca>Aca		general transcription factor IIA, 2, 12kDa							140.0	138.0	138.0					15																	59944473		2190	4290	6480	SO:0001583	missense	2958				interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr15:59944473C>T	BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.4G>A	15.37:g.59944473C>T	ENSP00000379372:p.Ala2Thr					AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000396063.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000396064.3_Missense_Mutation_p.A2T|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000396061.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000484743.1_Missense_Mutation_p.A2T	p.A2T	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN			2	185	-			2					A8MYQ7|Q6FGB5	Missense_Mutation	SNP	ENST00000396060.2	37	c.4G>A	CCDS10173.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368783	0.61624	.	.	ENSG00000140307	ENST00000396060;ENST00000396064;ENST00000396063;ENST00000396061;ENST00000484743	.	.	.	5.81	4.89	0.63831	Transcription initiation factor IIA, gamma subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.31752	0.955	0.54753	D	0.999989	B	0.13594	0.008	B	0.19666	0.026	T	0.42882	-0.9425	9	0.06625	T	0.88	-21.6414	15.978	0.80086	0.1359:0.8641:0.0:0.0	.	2	P52657	T2AG_HUMAN	T	2	.	ENSP00000379372:A2T	A	-	1	0	GTF2A2	57731765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.765000	0.74965	1.435000	0.47434	0.655000	0.94253	GCA		0.318	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256067.2	NM_004492		6	123	0	0	0	1	0	6	123				
IQGAP1	8826	broad.mit.edu	37	15	90972822	90972822	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90972822C>T	ENST00000268182.5	+	4	438	c.314C>T	c.(313-315)gCg>gTg	p.A105V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	105	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTTTCTAGGCGACTGGCCTC	0.343																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.e4-1		IQ motif containing GTPase activating protein 1							109.0	103.0	105.0					15																	90972822		2198	4298	6496	SO:0001630	splice_region_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90972822C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.313-1C>T	15.37:g.90972822C>T						IQGAP1_ENST00000560738.1_Intron	p.A105_splice	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	438	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		105			CH.		A7MBM3	Splice_Site	SNP	ENST00000268182.5	37	c.312_splice	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779302	0.49891	.	.	ENSG00000140575	ENST00000268182	T	0.02421	4.3	5.34	5.34	0.76211	Calponin homology domain (5);	0.064498	0.64402	D	0.000010	T	0.02230	0.0069	N	0.20807	0.61	0.80722	D	1	P	0.43750	0.816	B	0.28385	0.089	T	0.66015	-0.6028	10	0.34782	T	0.22	-14.9538	18.2112	0.89871	0.0:1.0:0.0:0.0	.	105	P46940	IQGA1_HUMAN	V	105	ENSP00000268182:A105V	ENSP00000268182:A105V	A	+	2	0	IQGAP1	88773826	1.000000	0.71417	0.997000	0.53966	0.385000	0.30292	4.665000	0.61547	2.776000	0.95493	0.650000	0.86243	GCG		0.343	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	Missense_Mutation	18	40	0	0	0	1	0	18	40				
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81110945C>T	ENST00000228644.3	+	1	255	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	35					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(103-105)Cga>Tga		myogenic factor 5							41.0	38.0	39.0					12																	81110945		2203	4300	6503	SO:0001587	stop_gained	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110945C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.103C>T	12.37:g.81110945C>T	ENSP00000228644:p.Arg35*						p.R35*	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	255	+			35					Q6ISR9	Nonsense_Mutation	SNP	ENST00000228644.3	37	c.103C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765066	0.90020	.	.	ENSG00000111049	ENST00000228644	.	.	.	6.17	-1.37	0.09056	.	0.214881	0.39210	N	0.001440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2243	13.701	0.62608	0.7448:0.1685:0.0868:0.0	.	.	.	.	X	35	.	ENSP00000228644:R35X	R	+	1	2	MYF5	79635076	0.000000	0.05858	0.000000	0.03702	0.788000	0.44548	-0.217000	0.09253	-0.104000	0.12154	-0.182000	0.12963	CGA		0.622	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		4	21	0	0	0	1	0	4	21				
CALML3	810	broad.mit.edu	37	10	5567216	5567216	+	Silent	SNP	C	C	T	rs531400419		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5567216C>T	ENST00000315238.1	+	1	293	c.168C>T	c.(166-168)atC>atT	p.I56I	CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000543008.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	56	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						TGAGTGAGATCGACCGGGACG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16214	0.0		0.0	False		,,,				2504	0.0				Colon(173;2070 2647 27580 52203)	ENST00000315238.1																			0				endometrium(3)|lung(2)	5						c.(166-168)atC>atT		calmodulin-like 3							112.0	70.0	84.0					10																	5567216		2203	4300	6503	SO:0001819	synonymous_variant	810						calcium ion binding	g.chr10:5567216C>T	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.168C>T	10.37:g.5567216C>T						RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	p.I56I	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN			1	293	+			56			EF-hand 2.		B2R9V6|Q5SQI4	Silent	SNP	ENST00000315238.1	37	c.168C>T	CCDS7069.1																																																																																				0.657	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		6	15	0	0	0	1	0	6	15				
IREB2	3658	broad.mit.edu	37	15	78783036	78783036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78783036G>A	ENST00000258886.8	+	18	2406	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	753					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.D753N(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGTCACAACAGATCATATATC	0.403																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			1	Substitution - Missense(1)	p.D753N(1)	urinary_tract(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2257-2259)Gat>Aat		iron-responsive element binding protein 2							177.0	179.0	178.0					15																	78783036		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78783036G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2257G>A	15.37:g.78783036G>A	ENSP00000258886:p.Asp753Asn						p.D753N	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	18	2406	+			753					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2257G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	36	5.868647	0.97049	.	.	ENSG00000136381	ENST00000258886	T	0.34859	1.34	6.07	6.07	0.98685	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82770	-0.0293	10	0.87932	D	0	.	20.6452	0.99591	0.0:0.0:1.0:0.0	.	753	P48200	IREB2_HUMAN	N	753	ENSP00000258886:D753N	ENSP00000258886:D753N	D	+	1	0	IREB2	76570091	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	9.294000	0.96088	2.885000	0.99019	0.650000	0.86243	GAT		0.403	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		71	130	0	0	0	1	0	71	130				
TRA2A	29896	broad.mit.edu	37	7	23547109	23547109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23547109G>A	ENST00000297071.4	-	5	787	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.R90W|TRA2A_ENST00000392502.4_Missense_Mutation_p.R90W	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	191	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TAATCCACCCGAATTCTTCTA	0.423																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(571-573)Cgg>Tgg		transformer 2 alpha homolog (Drosophila)							245.0	234.0	237.0					7																	23547109		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23547109G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.571C>T	7.37:g.23547109G>A	ENSP00000297071:p.Arg191Trp					TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.R90W|TRA2A_ENST00000392502.4_Missense_Mutation_p.R90W	p.R191W	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			5	787	-			191			RRM.		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.571C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719267	0.89205	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	D;D;D	0.85861	-2.04;-2.04;-2.04	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93687	0.7983	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94287	0.7525	10	0.87932	D	0	-7.0489	19.5178	0.95171	0.0:0.0:1.0:0.0	.	191	Q13595	TRA2A_HUMAN	W	191;90;90	ENSP00000297071:R191W;ENSP00000376290:R90W;ENSP00000441116:R90W	ENSP00000297071:R191W	R	-	1	2	TRA2A	23513634	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.967000	0.56802	2.615000	0.88500	0.650000	0.86243	CGG		0.423	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		50	128	0	0	0	1	0	50	128				
ROCK2	9475	broad.mit.edu	37	2	11348503	11348503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11348503C>A	ENST00000315872.6	-	19	2722	c.2274G>T	c.(2272-2274)gaG>gaT	p.E758D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E515D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	758	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACATCTTTTCTCAGCTTCTA	0.343																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(2272-2274)gaG>gaT		Rho-associated, coiled-coil containing protein kinase 2							94.0	86.0	89.0					2																	11348503		1817	4078	5895	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11348503C>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2274G>T	2.37:g.11348503C>A	ENSP00000317985:p.Glu758Asp					ROCK2_ENST00000401753.1_Missense_Mutation_p.E515D	p.E758D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	19	2722	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		758			Interaction with PPP1R12A.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.2274G>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061156	0.55432	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.67865	-0.29;0.79	5.61	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.65498	2.005	0.58432	D	0.999992	P	0.41041	0.736	B	0.40741	0.339	T	0.63278	-0.6673	10	0.41790	T	0.15	.	9.1419	0.36908	0.0:0.7136:0.0:0.2864	.	758	O75116	ROCK2_HUMAN	D	758;515;116	ENSP00000317985:E758D;ENSP00000385509:E515D	ENSP00000317985:E758D	E	-	3	2	ROCK2	11265954	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.547000	0.36190	1.370000	0.46153	-0.150000	0.13652	GAG		0.343	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			7	22	1	0	0.000157383	1	0.00017284	7	22				
SLC12A7	10723	broad.mit.edu	37	5	1053494	1053494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1053494G>A	ENST00000264930.5	-	23	3173	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1044					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTTTGGGAGGACCTGGCATG	0.602																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(3130-3132)Cct>Tct		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						167.0	130.0	143.0					5																	1053494		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1053494G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3130C>T	5.37:g.1053494G>A	ENSP00000264930:p.Pro1044Ser						p.P1044S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		23	3173	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		1044					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.3130C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975194	0.53720	.	.	ENSG00000113504	ENST00000264930	T	0.60797	0.16	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83129	-0.0114	10	0.66056	D	0.02	.	13.6706	0.62422	0.0:0.0:1.0:0.0	.	1044	Q9Y666	S12A7_HUMAN	S	1044	ENSP00000264930:P1044S	ENSP00000264930:P1044S	P	-	1	0	SLC12A7	1106494	1.000000	0.71417	0.921000	0.36526	0.013000	0.08279	8.253000	0.89842	1.885000	0.54596	0.491000	0.48974	CCT		0.602	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		11	24	0	0	0	1	0	11	24				
SLTM	79811	broad.mit.edu	37	15	59179515	59179515	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179515G>T	ENST00000380516.2	-	18	2687	c.2600C>A	c.(2599-2601)cCt>cAt	p.P867H	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.P436H	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	867	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGATGTCTAGGATGAGTGAT	0.502																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2599-2601)cCt>cAt		SAFB-like, transcription modulator							243.0	209.0	220.0					15																	59179515		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179515G>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2600C>A	15.37:g.59179515G>T	ENSP00000369887:p.Pro867His					SLTM_ENST00000536328.1_Missense_Mutation_p.P436H	p.P867H	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			18	2687	-			867			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2600C>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716876	0.30413	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.12255	2.7	5.68	4.74	0.60224	.	0.655217	0.13963	N	0.350667	T	0.15912	0.0383	N	0.14661	0.345	0.09310	N	1	B;D	0.64830	0.218;0.994	B;D	0.64595	0.042;0.927	T	0.18524	-1.0334	10	0.16896	T	0.51	.	8.5749	0.33592	0.0:0.2845:0.5927:0.1228	.	867;436	Q9NWH9;A8K5V8	SLTM_HUMAN;.	H	867;433;436	ENSP00000369887:P867H	ENSP00000369887:P867H	P	-	2	0	SLTM	56966807	0.020000	0.18652	0.060000	0.19600	0.516000	0.34256	2.307000	0.43682	2.673000	0.90976	0.563000	0.77884	CCT		0.502	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		10	67	1	0	7.48243e-07	1	8.70085e-07	10	67				
PCDHA1	56147	broad.mit.edu	37	5	140167237	140167237	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167237G>A	ENST00000504120.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000378133.3_Silent_p.A454A|PCDHA1_ENST00000394633.3_Silent_p.A454A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A454A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGC	0.677																																						ENST00000504120.2																			2	Substitution - coding silent(2)	p.A454A(2)	urinary_tract(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1360-1362)gcG>gcA									71.0	75.0	74.0					5																	140167237		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140167237G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1362G>A	5.37:g.140167237G>A						PCDHA1_ENST00000394633.3_Silent_p.A454A|PCDHA1_ENST00000378133.3_Silent_p.A454A	p.A454A	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1362	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1362G>A	CCDS54913.1																																																																																				0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		31	46	0	0	0	1	0	31	46				
FBXO17	115290	broad.mit.edu	37	19	39433282	39433282	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433282T>C	ENST00000292852.4	-	6	1144	c.803A>G	c.(802-804)cAc>cGc	p.H268R	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|FBXO17_ENST00000595329.1_Missense_Mutation_p.H268R	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	268	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACACTGGAGTGGGTCACAAG	0.577																																						ENST00000292852.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(802-804)cAc>cGc		F-box protein 17							106.0	94.0	98.0					19																	39433282		2203	4300	6503	SO:0001583	missense	115290							g.chr19:39433282T>C	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.803A>G	19.37:g.39433282T>C	ENSP00000292852:p.His268Arg					FBXO17_ENST00000595329.1_Missense_Mutation_p.H268R|SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron	p.H268R	NM_024907.5	NP_079183.4			Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	1144	-	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)							Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.803A>G	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810388	0.70797	.	.	ENSG00000104835	ENST00000392076;ENST00000292852	T	0.29142	1.58	4.73	4.73	0.59995	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.091120	0.46442	D	0.000292	T	0.41050	0.1142	L	0.29908	0.895	.	.	.	D	0.62365	0.991	D	0.78314	0.991	T	0.54470	-0.8289	9	0.66056	D	0.02	.	10.7923	0.46440	0.0:0.0:0.0:1.0	.	268	Q96EF6	FBX17_HUMAN	R	277;268	ENSP00000292852:H268R	ENSP00000292852:H268R	H	-	2	0	FBXO17	44125122	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.874000	0.56101	2.114000	0.64651	0.454000	0.30748	CAC		0.577	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		4	63	0	0	0	1	0	4	63				
PGM5	5239	broad.mit.edu	37	9	71114241	71114241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71114241C>T	ENST00000396396.1	+	10	1807	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	526					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CAGAGAGCTACGAGAGGGATC	0.577																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1576-1578)taC>taT		phosphoglucomutase 5							91.0	82.0	85.0					9																	71114241		2203	4300	6503	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71114241C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1578C>T	9.37:g.71114241C>T							p.Y526Y	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			10	1807	+			526					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.1578C>T	CCDS6622.2																																																																																				0.577	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		14	26	0	0	0	1	0	14	26				
SHROOM2	357	broad.mit.edu	37	X	9900704	9900704	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900704G>A	ENST00000380913.3	+	6	3471	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1127					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGACACCCCGAAGGCCACTG	0.657													G|||	1	0.000264901	0.0008	0.0	3775	,	,		11385	0.0		0.0	False		,,,				2504	0.0					ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3379-3381)ccG>ccA		shroom family member 2							56.0	48.0	51.0					X																	9900704		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900704G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3381G>A	X.37:g.9900704G>A						SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	p.P1127P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3471	+		Hepatocellular(5;0.000888)	1127					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.3381G>A	CCDS14135.1																																																																																				0.657	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		19	29	0	0	0	1	0	19	29				
HAS3	3038	broad.mit.edu	37	16	69143610	69143610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143610C>T	ENST00000306560.1	+	2	468	c.312C>T	c.(310-312)tgC>tgT	p.C104C	HAS3_ENST00000569188.1_Silent_p.C104C|HAS3_ENST00000219322.3_Silent_p.C104C	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	104					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCGCAAGTGCCTGCGCTCGG	0.662																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(310-312)tgC>tgT		hyaluronan synthase 3							56.0	47.0	50.0					16																	69143610		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143610C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.312C>T	16.37:g.69143610C>T						HAS3_ENST00000219322.3_Silent_p.C104C|HAS3_ENST00000569188.1_Silent_p.C104C	p.C104C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	468	+		Ovarian(137;0.101)	104					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.312C>T	CCDS10871.1																																																																																				0.662	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		18	30	0	0	0	1	0	18	30				
DZIP1	22873	broad.mit.edu	37	13	96241408	96241408	+	Splice_Site	SNP	G	G	A	rs371249353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241408G>A	ENST00000376829.2	-	19	2878	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	DZIP1_ENST00000361396.2_Splice_Site_p.T657M|DZIP1_ENST00000361156.3_Splice_Site_p.T657M|DZIP1_ENST00000347108.3_Splice_Site_p.T676M	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	676					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATACTCACGTAATAGTTGA	0.303																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.e17+1		DAZ interacting zinc finger protein 1		G	MET/THR,MET/THR	0,4406		0,0,2203	61.0	62.0	62.0		1970,2027	3.0	0.4	13		62	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	DZIP1	NM_014934.3,NM_198968.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	657/849,676/868	96241408	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96241408G>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2027+1C>T	13.37:g.96241408G>A						DZIP1_ENST00000376829.2_Splice_Site_p.T676_splice|DZIP1_ENST00000361156.3_Splice_Site_p.T657_splice|DZIP1_ENST00000361396.2_Splice_Site_p.T657_splice	p.T676_splice			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		17	2459	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		676					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Splice_Site	SNP	ENST00000376829.2	37	c.2027_splice	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778762	0.49891	0.0	1.16E-4	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.09163	3.03;3.01;3.01;3.03	5.68	2.95	0.34219	.	0.740470	0.13269	N	0.400673	T	0.14527	0.0351	L	0.50333	1.59	0.30662	N	0.75431	D;D	0.69078	0.989;0.997	P;P	0.50934	0.654;0.65	T	0.12656	-1.0539	9	.	.	.	-0.0238	5.2533	0.15534	0.1717:0.0:0.6604:0.1679	.	657;676	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	M	676;657;657;676	ENSP00000257312:T676M;ENSP00000355018:T657M;ENSP00000355175:T657M;ENSP00000366025:T676M	.	T	-	2	0	DZIP1	95039409	0.970000	0.33590	0.419000	0.26584	0.702000	0.40608	1.356000	0.34079	0.303000	0.22785	0.650000	0.86243	ACG		0.303	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	Missense_Mutation	11	36	0	0	0	1	0	11	36				
CD36	948	broad.mit.edu	37	7	80292424	80292424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80292424G>A	ENST00000435819.1	+	9	1232	c.548G>A	c.(547-549)aGg>aAg	p.R183K	CD36_ENST00000394788.3_Missense_Mutation_p.R183K|CD36_ENST00000544133.1_Missense_Mutation_p.R183K|CD36_ENST00000447544.2_Missense_Mutation_p.R183K|CD36_ENST00000534394.1_Missense_Mutation_p.R107K|CD36_ENST00000432207.1_Missense_Mutation_p.R183K|CD36_ENST00000538969.1_Intron|CD36_ENST00000309881.7_Missense_Mutation_p.R183K|CD36_ENST00000433696.2_Missense_Mutation_p.R183K			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	183					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGGCTATAGGGATCCATTT	0.338																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(547-549)aGg>aAg		CD36 molecule (thrombospondin receptor)							175.0	169.0	171.0					7																	80292424		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80292424G>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.548G>A	7.37:g.80292424G>A	ENSP00000399421:p.Arg183Lys					CD36_ENST00000538969.1_Intron|CD36_ENST00000394788.3_Missense_Mutation_p.R183K|CD36_ENST00000433696.2_Missense_Mutation_p.R183K|CD36_ENST00000534394.1_Missense_Mutation_p.R107K|CD36_ENST00000447544.2_Missense_Mutation_p.R183K|CD36_ENST00000544133.1_Missense_Mutation_p.R183K|CD36_ENST00000432207.1_Missense_Mutation_p.R183K|CD36_ENST00000309881.7_Missense_Mutation_p.R183K	p.R183K			P16671	CD36_HUMAN			9	1232	+			183					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.548G>A	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	G	0.113	-1.136106	0.01742	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.15	-10.3	0.00346	.	0.559485	0.20523	N	0.090662	T	0.16085	0.0387	N	0.00101	-2.135	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42310	-0.9459	9	.	.	.	0.5248	8.8911	0.35434	0.2842:0.5287:0.0522:0.1349	.	183	P16671	CD36_HUMAN	K	183;183;107;183;183;183;183;183;183;183	ENSP00000399421:R183K;ENSP00000308165:R183K;ENSP00000431296:R107K;ENSP00000378268:R183K;ENSP00000415743:R183K;ENSP00000411411:R183K;ENSP00000407690:R183K;ENSP00000392298:R183K;ENSP00000441956:R183K;ENSP00000401863:R183K	.	R	+	2	0	CD36	80130360	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	-0.418000	0.07080	-4.248000	0.00062	-2.404000	0.00223	AGG		0.338	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		35	112	0	0	0	1	0	35	112				
DZIP1	22873	broad.mit.edu	37	13	96237064	96237064	+	Missense_Mutation	SNP	G	G	A	rs149105659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96237064G>A	ENST00000376829.2	-	22	3301	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V	DZIP1_ENST00000361396.2_Missense_Mutation_p.A798V|DZIP1_ENST00000361156.3_Missense_Mutation_p.A798V|DZIP1_ENST00000347108.3_Missense_Mutation_p.A817V	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	817					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCATTTTTCGCAGGTGGAGG	0.458																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2449-2451)gCg>gTg		DAZ interacting zinc finger protein 1		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	119.0	113.0	115.0		2393,2450	0.2	0.0	13	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DZIP1	NM_014934.3,NM_198968.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	798/849,817/868	96237064	1,13005	2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96237064G>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2450C>T	13.37:g.96237064G>A	ENSP00000366025:p.Ala817Val					DZIP1_ENST00000376829.2_Missense_Mutation_p.A817V|DZIP1_ENST00000361156.3_Missense_Mutation_p.A798V|DZIP1_ENST00000361396.2_Missense_Mutation_p.A798V	p.A817V			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		20	2882	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		817					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2450C>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	g	0.776	-0.764203	0.02996	0.0	1.16E-4	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.06933	3.27;3.24;3.24;3.27	5.38	0.216	0.15258	.	2.012640	0.01714	N	0.027877	T	0.01976	0.0062	N	0.00392	-1.555	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43686	-0.9376	10	0.02654	T	1	-0.0104	3.3721	0.07224	0.3791:0.0:0.2623:0.3586	.	798;817	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	V	817;798;798;817	ENSP00000257312:A817V;ENSP00000355018:A798V;ENSP00000355175:A798V;ENSP00000366025:A817V	ENSP00000257312:A817V	A	-	2	0	DZIP1	95035065	0.008000	0.16893	0.017000	0.16124	0.003000	0.03518	0.375000	0.20518	0.016000	0.14998	-0.832000	0.03076	GCG		0.458	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		39	44	0	0	0	1	0	39	44				
SCN8A	6334	broad.mit.edu	37	12	52183122	52183122	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52183122T>C	ENST00000354534.6	+	24	4517	c.4339T>C	c.(4339-4341)Ttc>Ctc	p.F1447L	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1406L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1447					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTTTGTCATCTTCATCATCTT	0.403																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4339-4341)Ttc>Ctc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						175.0	172.0	173.0					12																	52183122		2081	4246	6327	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52183122T>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4339T>C	12.37:g.52183122T>C	ENSP00000346534:p.Phe1447Leu					SCN8A_ENST00000545061.1_Missense_Mutation_p.F1406L	p.F1447L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	24	4517	+			1447					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4339T>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968002	0.92855	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.98684	-5.07;-5.07;-5.07	4.37	4.37	0.52481	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.80616	2.505	0.80722	D	1	P;D	0.76494	0.521;0.999	B;D	0.68621	0.237;0.959	D	0.99457	1.0942	10	0.87932	D	0	.	14.653	0.68811	0.0:0.0:0.0:1.0	.	1406;1447	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	L	1447;1406;1406	ENSP00000346534:F1447L;ENSP00000440360:F1406L;ENSP00000347255:F1406L	ENSP00000346534:F1447L	F	+	1	0	SCN8A	50469389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.191000	0.70037	0.533000	0.62120	TTC		0.403	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		24	28	0	0	0	1	0	24	28				
HSPBAP1	79663	broad.mit.edu	37	3	122496626	122496626	+	Silent	SNP	C	C	T	rs149404291	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122496626C>T	ENST00000306103.2	-	2	335	c.192G>A	c.(190-192)tcG>tcA	p.S64S	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Silent_p.S64S	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	64			S -> A (in dbSNP:rs16833517).			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAAGGACCTGCGAAAGGTATT	0.413																																						ENST00000383659.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(190-192)tcG>tcA		HSPB (heat shock 27kDa) associated protein 1							190.0	170.0	176.0					3																	122496626		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122496626C>T	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.192G>A	3.37:g.122496626C>T						HSPBAP1_ENST00000306103.2_Silent_p.S64S|HSPBAP1_ENST00000465044.1_5'UTR	p.S64S			Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	2	314	-			64		S -> A (in dbSNP:rs16833517).			Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.192G>A	CCDS3017.1																																																																																				0.413	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		19	28	0	0	0	1	0	19	28				
PEX1	5189	broad.mit.edu	37	7	92126080	92126080	+	Silent	SNP	T	T	C	rs61750423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92126080T>C	ENST00000248633.4	-	17	2825	c.2730A>G	c.(2728-2730)ttA>ttG	p.L910L	PEX1_ENST00000438045.1_Silent_p.L588L|PEX1_ENST00000428214.1_Silent_p.L853L|PEX1_ENST00000541751.1_3'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	910					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTGCTGAGTAACTCTGGCC	0.303																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	GRCh37	CD013196	PEX1	D	rs61750423	c.(2728-2730)ttA>ttG		peroxisomal biogenesis factor 1							103.0	110.0	108.0					7																	92126080		2203	4299	6502	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92126080T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2730A>G	7.37:g.92126080T>C						PEX1_ENST00000428214.1_Silent_p.L853L|PEX1_ENST00000438045.1_Silent_p.L588L|PEX1_ENST00000541751.1_3'UTR	p.L910L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		17	2825	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	910					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.2730A>G	CCDS5627.1																																																																																				0.303	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		98	70	0	0	0	1	0	98	70				
MYO1D	4642	broad.mit.edu	37	17	30986141	30986141	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30986141A>G	ENST00000318217.5	-	17	2641	c.2337T>C	c.(2335-2337)atT>atC	p.I779I	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.I691I|MYO1D_ENST00000579584.1_Silent_p.I779I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	779					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACCTATTGAAAATCGTCTGCA	0.498											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2335-2337)atT>atC		myosin ID							96.0	82.0	87.0					17																	30986141		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986141A>G	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2337T>C	17.37:g.30986141A>G			OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_ENST00000579584.1_Silent_p.I779I|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.I691I	p.I779I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2641	-			779					A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.2337T>C	CCDS32615.1																																																																																				0.498	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			6	44	0	0	0	1	0	6	44				
ZSCAN29	146050	broad.mit.edu	37	15	43658362	43658362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43658362C>T	ENST00000396976.2	-	3	1302	c.1168G>A	c.(1168-1170)Gcg>Acg	p.A390T	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.A389T|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	390					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGGGGGTCGCCTCTAGATCC	0.552																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1168-1170)Gcg>Acg		zinc finger and SCAN domain containing 29							78.0	76.0	77.0					15																	43658362		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658362C>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1168G>A	15.37:g.43658362C>T	ENSP00000380174:p.Ala390Thr					ZSCAN29_ENST00000562072.1_Missense_Mutation_p.A389T|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	p.A390T	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	1302	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	390					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1168G>A	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634143	0.14322	.	.	ENSG00000140265	ENST00000396976	T	0.07800	3.16	4.57	2.63	0.31362	.	0.669074	0.13822	N	0.360358	T	0.19846	0.0477	M	0.63428	1.95	0.09310	N	0.999997	P;B;D	0.69078	0.893;0.291;0.997	P;B;D	0.77004	0.53;0.09;0.989	T	0.06881	-1.0802	10	0.49607	T	0.09	-0.1024	4.1659	0.10306	0.0:0.6035:0.2133:0.1832	.	389;390;390	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	T	390	ENSP00000380174:A390T	ENSP00000380174:A390T	A	-	1	0	ZSCAN29	41445654	0.126000	0.22350	0.121000	0.21740	0.214000	0.24535	0.518000	0.22847	1.249000	0.43950	0.655000	0.94253	GCG		0.552	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		30	59	0	0	0	1	0	30	59				
LRSAM1	90678	broad.mit.edu	37	9	130259537	130259537	+	Silent	SNP	C	C	T	rs577254396		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130259537C>T	ENST00000323301.4	+	23	2440	c.1836C>T	c.(1834-1836)ggC>ggT	p.G612G	LRSAM1_ENST00000300417.6_Silent_p.G612G|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Silent_p.G585G|LRSAM1_ENST00000373322.1_Silent_p.G612G	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	612	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CACAGGTGGGCGTCTCAGAAG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19175	0.0		0.0	False		,,,				2504	0.001					ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1834-1836)ggC>ggT		leucine rich repeat and sterile alpha motif containing 1							65.0	60.0	62.0					9																	130259537		2203	4300	6503	SO:0001819	synonymous_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130259537C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1836C>T	9.37:g.130259537C>T						LRSAM1_ENST00000373324.4_Silent_p.G585G|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.G612G|LRSAM1_ENST00000300417.6_Silent_p.G612G	p.G612G	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			23	2440	+			612			SAM.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	c.1836C>T	CCDS6873.1																																																																																				0.622	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		14	28	0	0	0	1	0	14	28				
PATL1	219988	broad.mit.edu	37	11	59420449	59420449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59420449G>A	ENST00000300146.9	-	10	1248	c.1164C>T	c.(1162-1164)caC>caT	p.H388H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	388	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GACTGCTCCGGTGACTTCCTC	0.438																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1162-1164)caC>caT		protein associated with topoisomerase II homolog 1 (yeast)							178.0	167.0	170.0					11																	59420449		1942	4132	6074	SO:0001819	synonymous_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59420449G>A	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1164C>T	11.37:g.59420449G>A							p.H388H	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			10	1248	-			388			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	c.1164C>T	CCDS44613.1																																																																																				0.438	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		86	88	0	0	0	1	0	86	88				
MAP4K4	9448	broad.mit.edu	37	2	102456416	102456416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102456416G>T	ENST00000347699.4	+	10	909	c.909G>T	c.(907-909)aaG>aaT	p.K303N	MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000413150.2_Missense_Mutation_p.K303N|MAP4K4_ENST00000324219.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000425019.1_Missense_Mutation_p.K303N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.K283N	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	303					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCAGCTTAAGGATCATATAG	0.388																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(907-909)aaG>aaT		mitogen-activated protein kinase kinase kinase kinase 4							80.0	75.0	76.0					2																	102456416		1863	4098	5961	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102456416G>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.909G>T	2.37:g.102456416G>T	ENSP00000314363:p.Lys303Asn					MAP4K4_ENST00000324219.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.K303N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.K283N|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000347699.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000302217.5_Intron	p.K303N	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			10	964	+			303					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.909G>T	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.074416|3.074416	0.55646|0.55646	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878	.|T;T;T;T;T;T;T	.|0.76839	.|0.96;-0.89;-0.85;0.92;-0.87;-1.05;-0.89	5.8|5.8	4.92|4.92	0.64577|0.64577	.|Protein kinase-like domain (1);	.|0.052144	.|0.85682	.|D	.|0.000000	.|D	.|0.87822	.|0.6274	M|M	0.83603|0.83603	2.65|2.65	0.58432|0.58432	D|D	0.999995|0.999995	.|P;D;D;D;D;P;P;D;P;P	.|0.89917	.|0.954;0.983;0.973;0.973;0.994;0.697;0.855;1.0;0.799;0.799	.|P;P;P;P;D;B;B;D;B;B	.|0.97110	.|0.814;0.688;0.805;0.891;0.954;0.136;0.189;1.0;0.265;0.265	.|D	.|0.88839	.|0.3311	.|10	.|0.87932	.|D	.|0	.|.	12.5134|12.5134	0.56017|0.56017	0.1311:0.0:0.8689:0.0|0.1311:0.0:0.8689:0.0	.|.	.|283;303;303;283;303;303;303;303;303;303	.|B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.|.;.;.;.;.;M4K4_HUMAN;.;.;.;.	X|N	43|303;303;303;303;303;265;283	.|ENSP00000392830:K303N;ENSP00000313644:K303N;ENSP00000281111:K303N;ENSP00000389752:K303N;ENSP00000314363:K303N;ENSP00000409720:K265N;ENSP00000343658:K283N	.|ENSP00000313644:K303N	G|K	+|+	1|3	0|2	MAP4K4|MAP4K4	101822848|101822848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.710000|2.710000	0.47169|0.47169	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.388	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		27	43	1	0	1.7367e-05	1	1.95915e-05	27	43				
SETMAR	6419	broad.mit.edu	37	3	4355208	4355208	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355208T>G	ENST00000358065.4	+	2	850	c.783T>G	c.(781-783)gaT>gaG	p.D261E	SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.D261E	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	261	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCTCTTATGATTATTCAGGAA	0.383								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(781-783)gaT>gaG	Chromatin Structure	SET domain and mariner transposase fusion gene							71.0	72.0	72.0					3																	4355208		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355208T>G	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.783T>G	3.37:g.4355208T>G	ENSP00000373354:p.Asp261Glu					SETMAR_ENST00000430981.1_Missense_Mutation_p.D261E|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	p.D261E	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	850	+		Melanoma(143;0.0657)	248			Histone-lysine N-methyltransferase.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.783T>G	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502460	0.44455	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	D;D	0.92699	-3.09;-3.09	5.18	1.39	0.22231	SET domain (3);	.	.	.	.	D	0.96479	0.8851	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	0.965;1.0	D;D	0.79108	0.952;0.992	D	0.94640	0.7829	9	0.87932	D	0	.	8.5702	0.33565	0.0:0.4168:0.0:0.5832	.	248;261	Q53H47;C9JHK2	SETMR_HUMAN;.	E	261	ENSP00000373354:D261E;ENSP00000403000:D261E	ENSP00000373354:D261E	D	+	3	2	SETMAR	4330208	1.000000	0.71417	0.986000	0.45419	0.293000	0.27360	1.303000	0.33470	-0.034000	0.13713	-0.242000	0.12053	GAT		0.383	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		14	38	0	0	0	1	0	14	38				
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468																																						ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(1111-1113)tcG>tcA		sialic acid acetylesterase							173.0	144.0	154.0					11																	124509617		2201	4299	6500	SO:0001819	synonymous_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124509617C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1113G>A	11.37:g.124509617C>T						SIAE_ENST00000545756.1_Silent_p.S336S	p.S371S			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	8	1285	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	371					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	c.1113G>A	CCDS8449.1																																																																																				0.468	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		45	69	0	0	0	1	0	45	69				
MLLT1	4298	broad.mit.edu	37	19	6222532	6222532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6222532C>T	ENST00000252674.7	-	6	873	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	237					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTTGGGCAGCCGGCCCTCGCC	0.642			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(709-711)cGg>cAg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							32.0	31.0	32.0					19																	6222532		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222532C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.710G>A	19.37:g.6222532C>T	ENSP00000252674:p.Arg237Gln						p.R237Q	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			6	873	-			237					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.710G>A	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376756	0.61735	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.44	0.748	0.18376	.	0.058170	0.64402	D	0.000003	T	0.22437	0.0541	N	0.24115	0.695	0.21897	N	0.999489	B	0.17268	0.021	B	0.08055	0.003	T	0.10660	-1.0620	9	0.29301	T	0.29	-16.1175	5.5556	0.17115	0.0:0.3773:0.0:0.6227	.	237	Q03111	ENL_HUMAN	Q	237	.	ENSP00000252674:R237Q	R	-	2	0	MLLT1	6173532	1.000000	0.71417	0.139000	0.22197	0.855000	0.48748	5.727000	0.68523	0.331000	0.23511	0.511000	0.50034	CGG		0.642	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		5	23	0	0	0	1	0	5	23				
PTPN2	5771	broad.mit.edu	37	18	12840713	12840713	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12840713C>A	ENST00000309660.5	-	3	254				PTPN2_ENST00000589086.1_Intron|PTPN2_ENST00000591115.1_Intron|PTPN2_ENST00000591497.1_Splice_Site_p.D25Y|PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000353319.4_Intron	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2						B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGAGATTACCTATTTCCTGC	0.423																																						ENST00000591497.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.e2+1		protein tyrosine phosphatase, non-receptor type 2							63.0	58.0	60.0					18																	12840713		876	1991	2867	SO:0001627	intron_variant	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12840713C>A	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.161-3823G>T	18.37:g.12840713C>A						PTPN2_ENST00000589086.1_Intron|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000309660.5_Intron|PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000591115.1_Intron	p.D25_splice			P17706	PTN2_HUMAN			2	325	-		Lung NSC(161;8.94e-06)	0			Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Splice_Site	SNP	ENST00000309660.5	37	c.73_splice	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	0.163	-1.079201	0.01903	.	.	ENSG00000175354	ENST00000341361	.	.	.	2.99	-5.97	0.02227	.	.	.	.	.	T	0.19087	0.0458	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17319	-1.0373	4	.	.	.	.	3.9585	0.09401	0.1658:0.5146:0.1942:0.1254	.	.	.	.	Y	31	.	.	D	-	1	0	PTPN2	12830713	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.537000	0.02206	-2.325000	0.00638	-1.518000	0.00936	GAT		0.423	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		7	32	1	0	0.27861	1	0.279982	7	32				
RPS6KL1	83694	broad.mit.edu	37	14	75376485	75376485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75376485C>T	ENST00000555647.1	-	8	1318	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G313E|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G344E|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G344E			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCAAGTGAGCCCCCGAGGGGG	0.692																																						ENST00000555647.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1030-1032)gGg>gAg		ribosomal protein S6 kinase-like 1							10.0	13.0	12.0					14																	75376485		2177	4268	6445	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75376485C>T	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1031G>A	14.37:g.75376485C>T	ENSP00000452027:p.Gly344Glu					RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G344E|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G313E|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G344E	p.G344E			Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	8	1318	-			344			Protein kinase.		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.1031G>A	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	C	8.662	0.900673	0.17686	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.57273	0.46;0.41;0.46;0.46	5.31	5.31	0.75309	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.333690	0.32884	N	0.005523	T	0.53094	0.1775	L	0.59436	1.845	0.09310	N	0.999999	B;D;B	0.52996	0.03;0.957;0.386	B;P;B	0.46389	0.012;0.515;0.23	T	0.54794	-0.8240	10	0.48119	T	0.1	-19.429	11.6188	0.51104	0.0:0.9155:0.0:0.0845	.	344;344;313	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	E	344;313;344;344	ENSP00000452027:G344E;ENSP00000346644:G313E;ENSP00000450567:G344E;ENSP00000351086:G344E	ENSP00000346644:G313E	G	-	2	0	RPS6KL1	74446238	0.055000	0.20627	0.044000	0.18714	0.022000	0.10575	0.738000	0.26158	2.494000	0.84150	0.561000	0.74099	GGG		0.692	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			5	12	0	0	0	1	0	5	12				
PRIMPOL	201973	broad.mit.edu	37	4	185615881	185615881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185615881G>A	ENST00000314970.6	+	14	2064	c.1631G>A	c.(1630-1632)aGt>aAt	p.S544N	PRIMPOL_ENST00000515774.1_Missense_Mutation_p.S415N|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.S544N|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.S543N|MLF1IP_ENST00000281453.5_3'UTR|PRIMPOL_ENST00000510864.1_3'UTR	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	544	Interaction with RPA1.				mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										AGTTATAACAGTGAAGTGGAT	0.363																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(1630-1632)aGt>aAt									66.0	69.0	68.0					4																	185615881		2203	4300	6503	SO:0001583	missense	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185615881G>A	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1631G>A	4.37:g.185615881G>A	ENSP00000313816:p.Ser544Asn					MLF1IP_ENST00000281453.5_3'UTR|CCDC111_ENST00000510864.1_3'UTR|CCDC111_ENST00000515774.1_Missense_Mutation_p.S415N|CCDC111_ENST00000503752.1_Missense_Mutation_p.S544N|CCDC111_ENST00000512834.1_Missense_Mutation_p.S543N	p.S544N	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	14	2064	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	544					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.1631G>A	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.925487	0.00493	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834	T;T;T;T	0.31247	1.51;1.5;1.51;1.51	3.85	0.816	0.18768	.	0.700115	0.11684	N	0.539539	T	0.15912	0.0383	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.33701	-0.9858	10	0.15499	T	0.54	5.2925	6.0673	0.19870	0.2004:0.2982:0.5014:0.0	.	415;544;543	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	N	544;415;544;543	ENSP00000313816:S544N;ENSP00000421913:S415N;ENSP00000420860:S544N;ENSP00000425316:S543N	ENSP00000313816:S544N	S	+	2	0	CCDC111	185852875	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.761000	0.26489	-0.001000	0.14495	-1.094000	0.02160	AGT		0.363	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		12	27	0	0	0	1	0	12	27				
KIF24	347240	broad.mit.edu	37	9	34256112	34256112	+	Missense_Mutation	SNP	C	C	T	rs544772730		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256112C>T	ENST00000402558.2	-	10	3517	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	KIF24_ENST00000379174.3_Missense_Mutation_p.E1031K|KIF24_ENST00000345050.2_Missense_Mutation_p.E1031K|KIF24_ENST00000379166.2_Missense_Mutation_p.E1165K			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1165					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCATGTGTTCGTGGGAGAAA	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22394	0.0		0.0	False		,,,				2504	0.0					ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3493-3495)Gaa>Aaa		kinesin family member 24							68.0	61.0	63.0					9																	34256112		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256112C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3493G>A	9.37:g.34256112C>T	ENSP00000384433:p.Glu1165Lys					KIF24_ENST00000379174.3_Missense_Mutation_p.E1031K|KIF24_ENST00000345050.2_Missense_Mutation_p.E1031K|KIF24_ENST00000402558.2_Missense_Mutation_p.E1165K	p.E1165K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3612	-			1165					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3493G>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	8.178	0.793262	0.16327	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050	T;T;T;T	0.72167	-0.42;-0.63;-0.42;-0.63	5.01	2.16	0.27623	.	0.963192	0.08544	N	0.930003	T	0.62514	0.2434	L	0.51422	1.61	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.47315	-0.9127	9	.	.	.	.	7.9265	0.29878	0.0:0.7383:0.0:0.2617	.	1165	Q5T7B8	KIF24_HUMAN	K	1165;1031;1165;1031	ENSP00000384433:E1165K;ENSP00000368472:E1031K;ENSP00000368464:E1165K;ENSP00000340179:E1031K	.	E	-	1	0	KIF24	34246112	0.000000	0.05858	0.012000	0.15200	0.051000	0.14879	0.389000	0.20751	0.298000	0.22638	0.655000	0.94253	GAA		0.582	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			4	49	0	0	0	1	0	4	49				
KAT6B	23522	broad.mit.edu	37	10	76789402	76789402	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76789402C>A	ENST00000287239.4	+	18	5309	c.4820C>A	c.(4819-4821)cCt>cAt	p.P1607H	KAT6B_ENST00000372725.1_Missense_Mutation_p.P1315H|KAT6B_ENST00000372714.1_Missense_Mutation_p.P1315H|KAT6B_ENST00000372711.1_Missense_Mutation_p.P1424H|KAT6B_ENST00000372724.1_Missense_Mutation_p.P1315H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1607	Interaction with RUNX1 and RUNX2.|Ser-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CACTCCCATCCTGGCCAGTCC	0.552																																						ENST00000287239.4																			0											c.(4819-4821)cCt>cAt		K(lysine) acetyltransferase 6B							152.0	133.0	139.0					10																	76789402		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76789402C>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4820C>A	10.37:g.76789402C>A	ENSP00000287239:p.Pro1607His					KAT6B_ENST00000372724.1_Missense_Mutation_p.P1315H|KAT6B_ENST00000372711.1_Missense_Mutation_p.P1424H|KAT6B_ENST00000372725.1_Missense_Mutation_p.P1315H|KAT6B_ENST00000372714.1_Missense_Mutation_p.P1315H	p.P1607H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	5309	+			1607			Interaction with RUNX1 and RUNX2.|Ser-rich.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4820C>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665184	0.47677	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.91996	-2.8;-2.8;-2.95;-2.8;-2.84	4.77	4.77	0.60923	.	0.000000	0.49916	D	0.000135	D	0.93766	0.8007	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.94916	0.8069	10	0.87932	D	0	-8.1264	17.7923	0.88558	0.0:1.0:0.0:0.0	.	1424;1315;1607	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	H	1315;1315;1607;1315;1424	ENSP00000361810:P1315H;ENSP00000361809:P1315H;ENSP00000287239:P1607H;ENSP00000361799:P1315H;ENSP00000361796:P1424H	ENSP00000287239:P1607H	P	+	2	0	KAT6B	76459408	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.452000	0.80683	2.191000	0.70037	0.563000	0.77884	CCT		0.552	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		12	33	1	0	0.00010058	1	0.000111121	12	33				
GDF9	2661	broad.mit.edu	37	5	132198025	132198025	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132198025C>T	ENST00000378673.2	-	3	1487	c.621G>A	c.(619-621)aaG>aaA	p.K207K	GDF9_ENST00000296875.2_Silent_p.K207K|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	207					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTGTTTCTTTCCAAATT	0.398																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(619-621)aaG>aaA		growth differentiation factor 9							129.0	126.0	127.0					5																	132198025		2203	4300	6503	SO:0001819	synonymous_variant	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132198025C>T		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.621G>A	5.37:g.132198025C>T						GDF9_ENST00000296875.2_Silent_p.K207K	p.K207K			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1487	-		all_cancers(142;0.105)|Breast(839;0.198)	207					Q4VAW5	Silent	SNP	ENST00000378673.2	37	c.621G>A	CCDS4162.1																																																																																				0.398	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		43	87	0	0	0	1	0	43	87				
ANKRD50	57182	broad.mit.edu	37	4	125591022	125591022	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125591022C>T	ENST00000504087.1	-	4	4447	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S958N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1137	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTACCAGAGCTATTTGATTT	0.423																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3409-3411)aGc>aAc		ankyrin repeat domain 50							144.0	138.0	140.0					4																	125591022		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591022C>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3410G>A	4.37:g.125591022C>T	ENSP00000425658:p.Ser1137Asn					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S958N	p.S1137N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4447	-			1137			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3410G>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222268	0.79464	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68624	-0.34;-0.3	5.19	5.19	0.71726	.	0.039756	0.85682	D	0.000000	T	0.63965	0.2556	L	0.27053	0.805	0.58432	D	0.999996	P	0.51791	0.948	P	0.49528	0.614	T	0.62978	-0.6739	10	0.35671	T	0.21	.	18.8923	0.92410	0.0:1.0:0.0:0.0	.	1137	Q9ULJ7	ANR50_HUMAN	N	1137;958	ENSP00000425658:S1137N;ENSP00000425355:S958N	ENSP00000425658:S1137N	S	-	2	0	ANKRD50	125810472	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.164000	0.77533	2.698000	0.92095	0.561000	0.74099	AGC		0.423	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		58	116	0	0	0	1	0	58	116				
TSIX	9383	broad.mit.edu	37	X	73042966	73042966	+	lincRNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73042966T>C	ENST00000604411.1	+	0	30927				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGTTGTTACATCTTGAACCAT	0.323																																						ENST00000604411.1																			0																				36.0	37.0	37.0					X																	73042966		874	1991	2865			0							g.chrX:73042966T>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042966T>C						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	30927	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.323	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		4	36	0	0	0	1	0	4	36				
TAF7L	54457	broad.mit.edu	37	X	100537368	100537368	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100537368A>G	ENST00000372907.3	-	5	622	c.611T>C	c.(610-612)aTa>aCa	p.I204T	TAF7L_ENST00000372905.2_Missense_Mutation_p.I118T|TAF7L_ENST00000356784.1_Missense_Mutation_p.I118T|TAF7L_ENST00000324762.6_Missense_Mutation_p.I118T	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	204					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTCCTGACTATATTAGGATC	0.423																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(610-612)aTa>aCa		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							173.0	133.0	147.0					X																	100537368		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100537368A>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.611T>C	X.37:g.100537368A>G	ENSP00000361998:p.Ile204Thr					TAF7L_ENST00000356784.1_Missense_Mutation_p.I118T|TAF7L_ENST00000372905.2_Missense_Mutation_p.I118T|TAF7L_ENST00000324762.6_Missense_Mutation_p.I118T	p.I204T	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			5	622	-			204					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.611T>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409319	0.25378	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.23552	2.44;1.9;1.9;3.18	5.9	-11.3	0.00108	TAFII55 protein, conserved region (1);	2.050380	0.02308	N	0.071805	T	0.10637	0.0260	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.13019	-1.0525	10	0.36615	T	0.2	0.5616	4.4993	0.11856	0.1012:0.1705:0.4625:0.2658	.	204;118	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	T	204;118;118;118	ENSP00000361998:I204T;ENSP00000361996:I118T;ENSP00000320283:I118T;ENSP00000349235:I118T	ENSP00000320283:I118T	I	-	2	0	TAF7L	100424024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.136000	0.03222	-2.620000	0.00440	-1.333000	0.01266	ATA		0.423	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			6	77	0	0	0	1	0	6	77				
AATK	9625	broad.mit.edu	37	17	79093214	79093214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093214C>T	ENST00000326724.4	-	13	4074	c.4050G>A	c.(4048-4050)acG>acA	p.T1350T	AATK_ENST00000417379.1_Silent_p.T1247T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1350					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGACACGTGCGTGATGGAGA	0.736																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(4048-4050)acG>acA		apoptosis-associated tyrosine kinase							16.0	19.0	18.0					17																	79093214		2017	4143	6160	SO:0001819	synonymous_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79093214C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.4050G>A	17.37:g.79093214C>T						AATK_ENST00000417379.1_Silent_p.T1247T	p.T1350T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		13	4074	-	all_neural(118;0.101)		1350					O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	c.4050G>A	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	4.710	0.132021	0.08981	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.52	-3.16	0.05217	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29549	-1.0008	4	.	.	.	.	2.2238	0.03979	0.1127:0.188:0.3639:0.3353	.	.	.	.	H	1303	.	.	R	-	2	0	AATK	76707809	0.001000	0.12720	0.845000	0.33349	0.091000	0.18340	-1.780000	0.01775	-0.736000	0.04831	0.297000	0.19635	CGC		0.736	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		5	13	0	0	0	1	0	5	13				
E2F1	1869	broad.mit.edu	37	20	32264576	32264576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32264576C>T	ENST00000343380.5	-	7	1415	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N	NECAB3_ENST00000375238.4_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000246190.6_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	426	Retinoblastoma protein RB1 binding. {ECO:0000255}.|Transactivation.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTCACAGTCGAAGAGGTCT	0.627																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1276-1278)Gac>Aac		E2F transcription factor 1							29.0	25.0	26.0					20																	32264576		2203	4300	6503	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32264576C>T		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1276G>A	20.37:g.32264576C>T	ENSP00000345571:p.Asp426Asn						p.D426N	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			7	1415	-			426			Retinoblastoma protein RB1 binding (Potential).|Transactivation.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.1276G>A	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985104	0.74474	.	.	ENSG00000101412	ENST00000343380	T	0.40756	1.02	4.75	4.75	0.60458	.	0.103432	0.64402	D	0.000004	T	0.49779	0.1577	M	0.79011	2.435	0.51482	D	0.999929	D	0.60160	0.987	B	0.43536	0.423	T	0.63070	-0.6719	10	0.87932	D	0	-23.5638	17.5226	0.87791	0.0:1.0:0.0:0.0	.	426	Q01094	E2F1_HUMAN	N	426	ENSP00000345571:D426N	ENSP00000345571:D426N	D	-	1	0	E2F1	31728237	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.889000	0.69766	2.463000	0.83235	0.462000	0.41574	GAC		0.627	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			5	6	0	0	0	1	0	5	6				
ZNF334	55713	broad.mit.edu	37	20	45132871	45132871	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45132871A>T	ENST00000347606.4	-	4	405	c.223T>A	c.(223-225)Tca>Aca	p.S75T	ZNF334_ENST00000593880.1_Missense_Mutation_p.S98T|ZNF334_ENST00000457685.2_Missense_Mutation_p.S37T	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCTGATTTGAGAATTCCTCC	0.413																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(109-111)Tca>Aca		zinc finger protein 334							122.0	92.0	102.0					20																	45132871		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45132871A>T	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.223T>A	20.37:g.45132871A>T	ENSP00000255129:p.Ser75Thr					ZNF334_ENST00000593880.1_Missense_Mutation_p.S98T|ZNF334_ENST00000347606.4_Missense_Mutation_p.S75T	p.S37T			Q9HCZ1	ZN334_HUMAN			5	1432	-		Myeloproliferative disorder(115;0.0122)	75			KRAB.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.109T>A	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.371487	0.42003	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08458	3.33;3.09	2.98	-2.48	0.06423	Krueppel-associated box (1);	.	.	.	.	T	0.04363	0.0120	L	0.27975	0.815	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.45731	-0.9241	9	0.18710	T	0.47	.	2.7557	0.05292	0.2776:0.0:0.3376:0.3848	.	37;75;98	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	T	37;75	ENSP00000402582:S37T;ENSP00000255129:S75T	ENSP00000255129:S75T	S	-	1	0	ZNF334	44566278	0.006000	0.16342	0.007000	0.13788	0.806000	0.45545	-0.111000	0.10807	-0.412000	0.07519	-0.691000	0.03719	TCA		0.413	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			5	57	0	0	0	1	0	5	57				
ZNF665	79788	broad.mit.edu	37	19	53668765	53668765	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668765G>T	ENST00000600412.1	-	2	898	c.783C>A	c.(781-783)gcC>gcA	p.A261A	ZNF665_ENST00000396424.3_Silent_p.A326A|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACACTAAAGGCTTTGCCAC	0.433																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(781-783)gcC>gcA		zinc finger protein 665							121.0	127.0	125.0					19																	53668765		2203	4300	6503	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668765G>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.783C>A	19.37:g.53668765G>T						ZNF665_ENST00000396424.3_Silent_p.A326A	p.A261A			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	898	-			261					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.783C>A																																																																																					0.433	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		8	99	1	0	0.000157383	1	0.00017284	8	99				
ZEB2	9839	broad.mit.edu	37	2	145158778	145158778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145158778G>A	ENST00000558170.2	-	7	2088	c.904C>T	c.(904-906)Cga>Tga	p.R302*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R302*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R302*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R278*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	302					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTGAATTCGCAGGTGTTCT	0.408																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107	GRCh37	CM041103	ZEB2	M		c.(904-906)Cga>Tga		zinc finger E-box binding homeobox 2							138.0	132.0	134.0					2																	145158778		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145158778G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.904C>T	2.37:g.145158778G>A	ENSP00000454157:p.Arg302*					ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R302*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R278*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R302*	p.R302*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	2088	-			302					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.904C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389006	0.95988	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.	.	.	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1874	14.2969	0.66318	0.0:0.0:0.828:0.172	.	.	.	.	X	297;278;302;302;302;302	.	ENSP00000302501:R302X	R	-	1	2	ZEB2	144875248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.510000	0.67018	1.181000	0.42912	0.491000	0.48974	CGA		0.408	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		32	58	0	0	0	1	0	32	58				
MEF2B	100271849	broad.mit.edu	37	19	19258575	19258575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19258575G>A	ENST00000602424.2	-	6	1051	c.325C>T	c.(325-327)Cca>Tca	p.P109S	MEF2B_ENST00000409447.2_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P109S|MEF2B_ENST00000410050.1_Missense_Mutation_p.P109S|MEF2B_ENST00000162023.5_Missense_Mutation_p.P109S|MEF2B_ENST00000424583.2_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P126S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409224.1_Missense_Mutation_p.P112S	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	109					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TTCTCTCCTGGCTCCTCAGGC	0.627																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(325-327)Cca>Tca		myocyte enhancer factor 2B							63.0	62.0	62.0					19																	19258575		2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19258575G>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.325C>T	19.37:g.19258575G>A	ENSP00000473308:p.Pro109Ser					MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P126S|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P109S|MEF2B_ENST00000162023.5_Missense_Mutation_p.P109S|MEF2B_ENST00000410050.1_Missense_Mutation_p.P109S|MEF2B_ENST00000424583.2_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409447.2_Missense_Mutation_p.P109S|MEF2B_ENST00000409224.1_Missense_Mutation_p.P112S	p.P109S	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		6	1051	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.325C>T	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102818	0.37145	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.87334	-2.12;-2.18;-2.18;-2.24;-2.18	5.15	4.11	0.48088	.	0.187130	0.35067	N	0.003465	D	0.84023	0.5381	L	0.40543	1.245	0.31800	N	0.628507	P;B;B;P;P	0.51537	0.615;0.02;0.02;0.946;0.615	B;B;B;P;B	0.53313	0.32;0.02;0.011;0.723;0.32	T	0.79867	-0.1622	10	0.08599	T	0.76	-6.6042	9.2549	0.37577	0.1001:0.0:0.8999:0.0	.	109;156;109;109;112	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	S	112;109;109;109;156;109	ENSP00000386480:P112S;ENSP00000402154:P109S;ENSP00000386374:P109S;ENSP00000390762:P109S;ENSP00000162023:P109S	ENSP00000162023:P109S	P	-	1	0	MEF2B	19119575	0.896000	0.30565	0.971000	0.41717	0.976000	0.68499	1.307000	0.33516	1.169000	0.42739	0.561000	0.74099	CCA		0.627	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		20	24	0	0	0	1	0	20	24				
POLR2M	81488	broad.mit.edu	37	15	58001098	58001098	+	Silent	SNP	G	G	A	rs146680768	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58001098G>A	ENST00000299638.3	+	2	514	c.300G>A	c.(298-300)caG>caA	p.Q100Q	GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000464308.1_3'UTR|POLR2M_ENST00000380563.2_Silent_p.Q100Q|GCOM1_ENST00000484300.1_Intron|GCOM1_ENST00000587652.1_Silent_p.Q497Q|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Intron	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	100					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										ATAAGGCCCAGAATTCTGACC	0.403																																						ENST00000299638.3																			0											c.(298-300)caG>caA		polymerase (RNA) II (DNA directed) polypeptide M							135.0	115.0	122.0					15																	58001098		2192	4292	6484	SO:0001819	synonymous_variant	81488							g.chr15:58001098G>A	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.300G>A	15.37:g.58001098G>A						POLR2M_ENST00000380563.2_Silent_p.Q100Q|GCOM1_ENST00000587652.1_Silent_p.Q497Q|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000484300.1_Intron|POLR2M_ENST00000380557.4_Intron|POLR2M_ENST00000464308.1_3'UTR	p.Q100Q	NM_015532.3	NP_056347.1					2	514	+								Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Silent	SNP	ENST00000299638.3	37	c.300G>A	CCDS32252.1																																																																																				0.403	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			46	62	0	0	0	1	0	46	62				
MPP6	51678	broad.mit.edu	37	7	24727059	24727059	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24727059C>T	ENST00000222644.5	+	12	1699	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	MPP6_ENST00000409761.1_Silent_p.D371D|MPP6_ENST00000396475.2_Silent_p.D483D			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCAACAGGACTCTGACTTGA	0.318																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(1447-1449)gaC>gaT		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							78.0	81.0	80.0					7																	24727059		2203	4300	6503	SO:0001819	synonymous_variant	51678				protein complex assembly		protein binding	g.chr7:24727059C>T	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1449C>T	7.37:g.24727059C>T						MPP6_ENST00000409761.1_Silent_p.D371D|MPP6_ENST00000222644.4_Silent_p.D483D	p.D483D	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			13	1748	+			483			Guanylate kinase-like.		B2RAF0	Silent	SNP	ENST00000222644.5	37	c.1449C>T	CCDS5388.1																																																																																				0.318	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			80	53	0	0	0	1	0	80	53				
TRIM29	23650	broad.mit.edu	37	11	119998186	119998186	+	Missense_Mutation	SNP	G	G	A	rs535733632		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998186G>A	ENST00000341846.5	-	3	1413	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Missense_Mutation_p.A64V|TRIM29_ENST00000529044.1_Missense_Mutation_p.A70V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	331					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGCTCCAGCGCAGCCCTCAC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19881	0.0		0.0	False		,,,				2504	0.001					ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(991-993)gCg>gTg		tripartite motif containing 29							153.0	125.0	135.0					11																	119998186		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998186G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.992C>T	11.37:g.119998186G>A	ENSP00000343129:p.Ala331Val					TRIM29_ENST00000529044.1_Missense_Mutation_p.A70V|TRIM29_ENST00000541857.1_Missense_Mutation_p.A64V	p.A331V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1413	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	331					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.992C>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977919	0.74360	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.38722	1.12	5.14	5.14	0.70334	.	0.183923	0.38326	N	0.001730	T	0.42017	0.1184	N	0.19112	0.55	0.36808	D	0.885745	D;D;D	0.76494	0.998;0.998;0.999	P;P;P	0.60682	0.878;0.878;0.788	T	0.42632	-0.9440	9	.	.	.	.	10.2367	0.43288	0.0:0.1466:0.7017:0.1518	.	64;70;331	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	V	331;64;70	ENSP00000343129:A331V	.	A	-	2	0	TRIM29	119503396	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	3.459000	0.53021	2.412000	0.81896	0.655000	0.94253	GCG		0.592	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		73	59	0	0	0	1	0	73	59				
CLN3	1201	broad.mit.edu	37	16	28493460	28493460	+	Missense_Mutation	SNP	C	C	T	rs201271341	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28493460C>T	ENST00000569430.1	-	15	1841	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CLN3_ENST00000357806.7_Missense_Mutation_p.R242H|CLN3_ENST00000333496.9_Missense_Mutation_p.R317H|CLN3_ENST00000357076.5_Missense_Mutation_p.R231H|CLN3_ENST00000360019.2_Missense_Mutation_p.R341H|CLN3_ENST00000355477.5_Missense_Mutation_p.R293H|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000354630.5_Missense_Mutation_p.R324H|CLN3_ENST00000568224.1_Missense_Mutation_p.R263H|CLN3_ENST00000565316.1_Missense_Mutation_p.R324H|CLN3_ENST00000357857.9_Missense_Mutation_p.R287H|CLN3_ENST00000535392.1_Missense_Mutation_p.R263H|CLN3_ENST00000395653.4_Missense_Mutation_p.R241H|CLN3_ENST00000359984.7_Missense_Mutation_p.R341H			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	341					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GAAACGGATGCGACAGCAGCG	0.637													.|||	5	0.000998403	0.0	0.0	5008	,	,		15484	0.005		0.0	False		,,,				2504	0.0					ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(1021-1023)cGc>cAc		ceroid-lipofuscinosis, neuronal 3							42.0	39.0	40.0					16																	28493460		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28493460C>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1022G>A	16.37:g.28493460C>T	ENSP00000454229:p.Arg341His					CLN3_ENST00000354630.5_Missense_Mutation_p.R324H|CLN3_ENST00000355477.5_Missense_Mutation_p.R293H|CLN3_ENST00000357806.7_Missense_Mutation_p.R242H|CLN3_ENST00000357076.5_Missense_Mutation_p.R231H|CLN3_ENST00000357857.9_Missense_Mutation_p.R287H|CLN3_ENST00000360019.2_Missense_Mutation_p.R341H|CLN3_ENST00000333496.9_Missense_Mutation_p.R317H|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.R324H|CLN3_ENST00000535392.1_Missense_Mutation_p.R263H|CLN3_ENST00000359984.7_Missense_Mutation_p.R341H|CLN3_ENST00000568224.1_Missense_Mutation_p.R263H|CLN3_ENST00000395653.4_Missense_Mutation_p.R241H	p.R341H			Q13286	CLN3_HUMAN			15	1841	-			341					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.1022G>A	CCDS10632.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	c	6.807	0.517976	0.13005	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	D;D;D;D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-3.47	5.41	-4.22	0.03800	Major facilitator superfamily domain, general substrate transporter (1);	0.527549	0.21825	N	0.068567	D	0.93582	0.7951	L	0.48935	1.535	0.09310	N	1	B;B;B;B;B;B;B;B	0.28128	0.023;0.018;0.023;0.056;0.013;0.018;0.006;0.201	B;B;B;B;B;B;B;B	0.20184	0.01;0.011;0.01;0.016;0.017;0.006;0.007;0.028	D	0.84946	0.0868	10	0.44086	T	0.13	-3.1228	9.577	0.39463	0.0:0.4063:0.0928:0.5008	.	317;324;239;241;287;293;341;242	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	H	263;341;341;324;293;287;241;242;231	ENSP00000443221:R263H;ENSP00000353073:R341H;ENSP00000353116:R341H;ENSP00000346650:R324H;ENSP00000347660:R293H;ENSP00000350523:R287H;ENSP00000379014:R241H;ENSP00000350457:R242H;ENSP00000349586:R231H	ENSP00000346650:R324H	R	-	2	0	CLN3	28400961	0.000000	0.05858	0.129000	0.21949	0.468000	0.32798	-2.920000	0.00694	-1.166000	0.02783	-1.615000	0.00797	CGC		0.637	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			12	11	0	0	0	1	0	12	11				
KRTAP19-1	337882	broad.mit.edu	37	21	31852400	31852400	+	Silent	SNP	C	C	T	rs201791168		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852400C>T	ENST00000390689.2	-	1	263	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	79	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCCATTGTACGATGGGCGGC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		15364	0.001		0.0	False		,,,				2504	0.0					ENST00000390689.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(235-237)tcG>tcA		keratin associated protein 19-1							152.0	167.0	162.0					21																	31852400		2203	4300	6503	SO:0001819	synonymous_variant	337882					intermediate filament		g.chr21:31852400C>T	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.237G>A	21.37:g.31852400C>T							p.S79S	NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN			1	263	-			79			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Silent	SNP	ENST00000390689.2	37	c.237G>A	CCDS13594.1																																																																																				0.493	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			9	234	0	0	0	1	0	9	234				
NR5A1	2516	broad.mit.edu	37	9	127245118	127245118	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127245118C>A	ENST00000373588.4	-	7	1501	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	435	Important for dimerization.				adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GGTACAGGTACTCCTTGGCCT	0.627																																						ENST00000373588.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1303-1305)gaG>gaT		nuclear receptor subfamily 5, group A, member 1							93.0	69.0	77.0					9																	127245118		2203	4300	6503	SO:0001583	missense	2516				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr9:127245118C>A	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"""Nuclear hormone receptors"""	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.1305G>T	9.37:g.127245118C>A	ENSP00000362690:p.Glu435Asp						p.E435D	NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN			7	1501	-			435			Important for dimerization.		O15196|Q5T6F5	Missense_Mutation	SNP	ENST00000373588.4	37	c.1305G>T	CCDS6856.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361847	0.61403	.	.	ENSG00000136931	ENST00000373588;ENST00000373587	D;D	0.97665	-4.48;-2.11	4.94	-0.564	0.11774	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.050585	0.85682	D	0.000000	D	0.91680	0.7370	N	0.21545	0.675	0.45354	D	0.998345	B	0.12013	0.005	B	0.15052	0.012	T	0.79874	-0.1619	10	0.28530	T	0.3	.	10.7971	0.46466	0.0:0.7511:0.0:0.2489	.	435	Q13285	STF1_HUMAN	D	435;219	ENSP00000362690:E435D;ENSP00000362689:E219D	ENSP00000362689:E219D	E	-	3	2	NR5A1	126284939	0.983000	0.35010	0.988000	0.46212	0.995000	0.86356	0.189000	0.17037	-0.459000	0.07013	0.407000	0.27541	GAG		0.627	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		5	9	1	0	0.0215528	1	0.0221649	5	9				
MUC17	140453	broad.mit.edu	37	7	100677590	100677590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100677590C>T	ENST00000306151.4	+	3	2957	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	965	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCATCTCCTACAACTGC	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2893-2895)Cct>Tct		mucin 17, cell surface associated							333.0	311.0	319.0					7																	100677590		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677590C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2893C>T	7.37:g.100677590C>T	ENSP00000302716:p.Pro965Ser						p.P965S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2957	+	Lung NSC(181;0.136)|all_lung(186;0.182)		965			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2893C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.266	-0.614535	0.03663	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.629	-1.26	0.09376	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	P	0.45531	0.86	B	0.34385	0.181	T	0.37150	-0.9718	9	0.05959	T	0.93	.	6.0129	0.19586	0.0:0.6744:0.3256:0.0	.	965	Q685J3	MUC17_HUMAN	S	965	ENSP00000302716:P965S	ENSP00000302716:P965S	P	+	1	0	MUC17	100464310	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-5.556000	0.00113	-0.343000	0.08351	0.134000	0.15878	CCT		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		211	221	0	0	0	1	0	211	221				
LRRC16A	55604	broad.mit.edu	37	6	25551155	25551155	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25551155G>T	ENST00000329474.6	+	27	2714	c.2346G>T	c.(2344-2346)atG>atT	p.M782I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	782					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTGAGTCCATGGTTGATGCTG	0.458																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2344-2346)atG>atT		leucine rich repeat containing 16A							155.0	153.0	154.0					6																	25551155		2042	4206	6248	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25551155G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2346G>T	6.37:g.25551155G>T	ENSP00000331983:p.Met782Ile						p.M782I	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			27	2714	+			782					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2346G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841751	0.91197	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.22539	1.95	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.65815	0.98;0.98;0.993;0.995	D;D;D;D	0.75020	0.958;0.958;0.981;0.985	T	0.15009	-1.0452	10	0.66056	D	0.02	.	19.5182	0.95174	0.0:0.0:1.0:0.0	.	782;782;782;782	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	I	782	ENSP00000331983:M782I	ENSP00000331983:M782I	M	+	3	0	LRRC16A	25659134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.199000	0.95003	2.596000	0.87737	0.650000	0.86243	ATG		0.458	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		36	76	1	0	5.43694e-19	1	7.10666e-19	36	76				
TNR	7143	broad.mit.edu	37	1	175372720	175372720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175372720G>T	ENST00000367674.2	-	4	1240	c.532C>A	c.(532-534)Cac>Aac	p.H178N	TNR_ENST00000263525.2_Missense_Mutation_p.H178N			Q92752	TENR_HUMAN	tenascin R	178	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTTGCCGTGGCCACTGCAG	0.562																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(532-534)Cac>Aac		tenascin R							75.0	78.0	77.0					1																	175372720		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372720G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.532C>A	1.37:g.175372720G>T	ENSP00000356646:p.His178Asn					TNR_ENST00000263525.2_Missense_Mutation_p.H178N	p.H178N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1240	-	Renal(580;0.146)		178			Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.532C>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191205	0.78902	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.65732	-0.17;-0.17	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.66439	2.03	0.58432	D	0.999999	P;P	0.44627	0.828;0.839	B;B	0.38562	0.236;0.276	T	0.68538	-0.5382	10	0.59425	D	0.04	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	178;178	B4DIX8;Q92752	.;TENR_HUMAN	N	178	ENSP00000356646:H178N;ENSP00000263525:H178N	ENSP00000263525:H178N	H	-	1	0	TNR	173639343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.694000	0.98686	2.865000	0.98341	0.655000	0.94253	CAC		0.562	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		48	80	1	0	1.72184e-34	1	2.31481e-34	48	80				
MSLN	10232	broad.mit.edu	37	16	812739	812739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:812739G>T	ENST00000382862.3	+	2	154	c.59G>T	c.(58-60)aGc>aTc	p.S20I	MSLN_ENST00000545450.2_Missense_Mutation_p.S20I|MSLN_ENST00000566549.1_Missense_Mutation_p.S20I|MSLN_ENST00000563941.1_Missense_Mutation_p.S20I	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	20					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCTCGGCAGCCTCCTGTTC	0.687																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(58-60)aGc>aTc		mesothelin							81.0	85.0	83.0					16																	812739		2200	4298	6498	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:812739G>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.59G>T	16.37:g.812739G>T	ENSP00000372313:p.Ser20Ile					MSLN_ENST00000545450.2_Missense_Mutation_p.S20I|MSLN_ENST00000563941.1_Missense_Mutation_p.S20I|MSLN_ENST00000382862.3_Missense_Mutation_p.S20I	p.S20I			Q13421	MSLN_HUMAN			2	476	+		Hepatocellular(780;0.00335)	20					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.59G>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822369	0.50739	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17528	2.27;2.27	2.94	2.94	0.34122	.	1.036280	0.07785	U	0.953961	T	0.32436	0.0829	L	0.51422	1.61	0.26455	N	0.975536	D;D;D;D	0.65815	0.994;0.995;0.994;0.994	P;P;P;P	0.61658	0.827;0.892;0.827;0.827	T	0.14811	-1.0459	10	0.87932	D	0	.	9.5885	0.39532	0.0:0.0:1.0:0.0	.	20;20;20;20	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	I	20	ENSP00000442965:S20I;ENSP00000372313:S20I	ENSP00000372313:S20I	S	+	2	0	MSLN	752740	0.002000	0.14202	0.341000	0.25589	0.048000	0.14542	0.943000	0.29030	1.977000	0.57605	0.561000	0.74099	AGC		0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			47	72	1	0	1.67211e-32	1	2.24389e-32	47	72				
CAPZA3	93661	broad.mit.edu	37	12	18891730	18891730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891730C>T	ENST00000317658.3	+	1	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F	PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	176					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AATGGATTTTCCAAGTTAACC	0.388																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(526-528)ttC>ttT		capping protein (actin filament) muscle Z-line, alpha 3							83.0	80.0	81.0					12																	18891730		2203	4298	6501	SO:0001819	synonymous_variant	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891730C>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.528C>T	12.37:g.18891730C>T							p.F176F	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	686	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	176					Q969J0	Silent	SNP	ENST00000317658.3	37	c.528C>T	CCDS8681.1																																																																																				0.388	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		7	69	0	0	0	1	0	7	69				
SMAD2	4087	broad.mit.edu	37	18	45374854	45374854	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45374854C>A	ENST00000402690.2	-	8	1383	c.989G>T	c.(988-990)aGg>aTg	p.R330M	SMAD2_ENST00000591214.1_Missense_Mutation_p.R300M|SMAD2_ENST00000356825.4_Missense_Mutation_p.R300M|SMAD2_ENST00000586040.1_Missense_Mutation_p.R300M|SMAD2_ENST00000262160.6_Missense_Mutation_p.R330M	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	330	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCTATATGCCTTCTTGTCAT	0.398																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(988-990)aGg>aTg		SMAD family member 2							107.0	103.0	104.0					18																	45374854		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45374854C>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.989G>T	18.37:g.45374854C>A	ENSP00000384449:p.Arg330Met					SMAD2_ENST00000356825.4_Missense_Mutation_p.R300M|SMAD2_ENST00000586040.1_Missense_Mutation_p.R300M|SMAD2_ENST00000262160.6_Missense_Mutation_p.R330M|SMAD2_ENST00000591214.1_Missense_Mutation_p.R300M	p.R330M	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			8	1383	-			330			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.989G>T	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786383	0.90367	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97404	-4.37;-4.37;-4.37	5.81	5.81	0.92471	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.70487	0.969;0.918;0.951	D	0.98688	1.0695	10	0.56958	D	0.05	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	300;300;330	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	M	330;300;330	ENSP00000262160:R330M;ENSP00000349282:R300M;ENSP00000384449:R330M	ENSP00000262160:R330M	R	-	2	0	SMAD2	43628852	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	AGG		0.398	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		8	82	1	0	0.335167	1	0.336617	8	82				
CERS6	253782	broad.mit.edu	37	2	169551472	169551472	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169551472C>T	ENST00000305747.6	+	6	1107	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	CERS6_ENST00000392687.4_Missense_Mutation_p.L174F	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	174	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTTCAGCCACTCACAACTGA	0.388																																						ENST00000305747.6																			0											c.(520-522)Ctc>Ttc		ceramide synthase 6							221.0	191.0	201.0					2																	169551472		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169551472C>T	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.520C>T	2.37:g.169551472C>T	ENSP00000306579:p.Leu174Phe					CERS6_ENST00000392687.4_Missense_Mutation_p.L174F	p.L174F	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			6	1107	+			174			TLC.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.520C>T	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552354	0.86127	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.85484	-1.99;-1.99	5.77	5.77	0.91146	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93000	0.7772	M	0.82923	2.615	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.73380	0.98;0.98	D	0.93134	0.6535	10	0.62326	D	0.03	-34.9677	18.7588	0.91842	0.0:1.0:0.0:0.0	.	174;174	Q32M63;Q6ZMG9	.;CERS6_HUMAN	F	174	ENSP00000306579:L174F;ENSP00000376453:L174F	ENSP00000306579:L174F	L	+	1	0	CERS6	169259718	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	3.841000	0.55850	2.732000	0.93576	0.655000	0.94253	CTC		0.388	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		6	103	0	0	0	1	0	6	103				
THAP9	79725	broad.mit.edu	37	4	83828938	83828938	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83828938A>G	ENST00000302236.5	+	4	632	c.581A>G	c.(580-582)gAt>gGt	p.D194G	LIN54_ENST00000505905.1_5'Flank	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	194					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTTAACAGATTTTAAGTGG	0.308																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.e4-1		THAP domain containing 9							38.0	41.0	40.0					4																	83828938		2191	4290	6481	SO:0001630	splice_region_variant	79725						DNA binding|metal ion binding	g.chr4:83828938A>G	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.581-1A>G	4.37:g.83828938A>G							p.D194_splice	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			4	632	+		Hepatocellular(203;0.114)	194					B3KRE2|Q59AC9	Splice_Site	SNP	ENST00000302236.5	37	c.580_splice	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445558	0.43429	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.45276	0.9	3.95	3.95	0.45737	.	0.695418	0.12537	N	0.460298	T	0.50051	0.1593	L	0.29908	0.895	0.29947	N	0.820591	D	0.89917	1.0	D	0.79108	0.992	T	0.41179	-0.9523	9	.	.	.	.	11.0746	0.48023	1.0:0.0:0.0:0.0	.	194	Q9H5L6	THAP9_HUMAN	G	194	ENSP00000305533:D194G	.	D	+	2	0	THAP9	84047962	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.798000	0.62510	2.007000	0.58848	0.533000	0.62120	GAT		0.308	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	Missense_Mutation	10	26	0	0	0	1	0	10	26				
ATF6	22926	broad.mit.edu	37	1	161753881	161753881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161753881G>A	ENST00000367942.3	+	4	416	c.349G>A	c.(349-351)Gtt>Att	p.V117I		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	117	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AACTCAGCATGTTCCTGTGAG	0.388																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(349-351)Gtt>Att		activating transcription factor 6							128.0	120.0	123.0					1																	161753881		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161753881G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.349G>A	1.37:g.161753881G>A	ENSP00000356919:p.Val117Ile						p.V117I	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		4	416	+	all_hematologic(112;0.156)		117			Transcription activation.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.349G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078833	0.76528	.	.	ENSG00000118217	ENST00000367942	T	0.15952	2.38	5.72	5.72	0.89469	.	0.275088	0.36628	N	0.002482	T	0.26738	0.0654	L	0.53249	1.67	0.36884	D	0.889556	D;D	0.76494	0.999;0.999	P;D	0.76071	0.883;0.987	T	0.00809	-1.1557	9	0.33940	T	0.23	-5.0621	15.3969	0.74801	0.0:0.0:1.0:0.0	.	117;118	P18850;Q59H30	ATF6A_HUMAN;.	I	117	ENSP00000356919:V117I	ENSP00000356919:V117I	V	+	1	0	ATF6	160020505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.540000	0.67205	2.691000	0.91804	0.655000	0.94253	GTT		0.388	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		62	47	0	0	0	1	0	62	47				
PNP	4860	broad.mit.edu	37	14	20944542	20944542	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20944542G>T	ENST00000361505.5	+	6	798		c.e6-1		RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase						digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CTCACTATCAGGCATGAGTAC	0.408																																						ENST00000361505.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						c.e6-1		purine nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						142.0	118.0	126.0					14																	20944542		2203	4300	6503	SO:0001630	splice_region_variant	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20944542G>T		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.653-1G>T	14.37:g.20944542G>T						RP11-203M5.8_ENST00000554678.1_lincRNA		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN			6	798	+									Splice_Site	SNP	ENST00000361505.5	37		CCDS9552.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010724	0.75046	.	.	ENSG00000198805	ENST00000361505	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.962	0.79939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNP	20014382	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.029000	0.93718	2.270000	0.75569	0.650000	0.86243	.		0.408	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2	Intron	4	82	1	0	0.00024832	1	0.0002712	4	82				
BFAR	51283	broad.mit.edu	37	16	14743744	14743744	+	Silent	SNP	G	G	A	rs142851831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14743744G>A	ENST00000261658.2	+	4	829	c.552G>A	c.(550-552)gcG>gcA	p.A184A	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Silent_p.A56A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	184	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AATGGACGGCGGAAGAAGTTG	0.537																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(550-552)gcG>gcA		bifunctional apoptosis regulator		G		2,4392	4.2+/-10.8	0,2,2195	84.0	78.0	80.0		552	-10.7	0.7	16	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	BFAR	NM_016561.2		0,2,6495	AA,AG,GG		0.0,0.0455,0.0154		184/451	14743744	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14743744G>A	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.552G>A	16.37:g.14743744G>A						BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Silent_p.A56A	p.A184A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			4	829	+			184			SAM.		A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	ENST00000261658.2	37	c.552G>A	CCDS10554.1																																																																																				0.537	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		23	31	0	0	0	1	0	23	31				
DCAF8L1	139425	broad.mit.edu	37	X	27998291	27998291	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998291A>G	ENST00000441525.1	-	1	1275	c.1161T>C	c.(1159-1161)tgT>tgC	p.C387C		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	387										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTGGGAAATCACAATAAACCA	0.413																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1159-1161)tgT>tgC		DDB1 and CUL4 associated factor 8-like 1							107.0	94.0	99.0					X																	27998291		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998291A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1161T>C	X.37:g.27998291A>G							p.C387C	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1275	-			387					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1161T>C	CCDS35222.1																																																																																				0.413	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		8	76	0	0	0	1	0	8	76				
TTC12	54970	broad.mit.edu	37	11	113233177	113233177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113233177G>T	ENST00000529221.1	+	19	1774	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	TTC12_ENST00000393020.1_Nonsense_Mutation_p.E557*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E557*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E563*	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	557										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AATTGTTGAGGAGGCCTTGCG	0.418																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1669-1671)Gag>Tag		tetratricopeptide repeat domain 12							99.0	104.0	102.0					11																	113233177		2201	4296	6497	SO:0001587	stop_gained	54970						binding	g.chr11:113233177G>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1669G>T	11.37:g.113233177G>T	ENSP00000433757:p.Glu557*					TTC12_ENST00000529221.1_Nonsense_Mutation_p.E557*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E557*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E563*	p.E557*			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	19	2074	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	557					Q8N5H9|Q9NWY3	Nonsense_Mutation	SNP	ENST00000529221.1	37	c.1669G>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	36	5.957431	0.97145	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	.	.	.	5.05	5.05	0.67936	.	0.467249	0.24150	N	0.041089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-22.8007	16.5399	0.84382	0.0:0.0:1.0:0.0	.	.	.	.	X	557;557;557;563	.	ENSP00000315160:E557X	E	+	1	0	TTC12	112738387	1.000000	0.71417	0.974000	0.42286	0.072000	0.16883	4.788000	0.62439	2.497000	0.84241	0.655000	0.94253	GAG		0.418	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		20	52	1	0	1.90627e-21	1	2.509e-21	20	52				
BIRC6	57448	broad.mit.edu	37	2	32613827	32613827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32613827G>T	ENST00000421745.2	+	4	789	c.655G>T	c.(655-657)Gtt>Ttt	p.V219F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	219					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGCCACAGTTACATTTCA	0.358																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(655-657)Gtt>Ttt		baculoviral IAP repeat containing 6							170.0	143.0	153.0					2																	32613827		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32613827G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.655G>T	2.37:g.32613827G>T	ENSP00000393596:p.Val219Phe						p.V219F	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			4	789	+	Acute lymphoblastic leukemia(172;0.155)		219					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.655G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961811	0.74016	.	.	ENSG00000115760	ENST00000421745	T	0.77358	-1.09	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	D	0.85270	0.5658	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.85954	0.1466	10	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	219	Q9NR09	BIRC6_HUMAN	F	219	ENSP00000393596:V219F	ENSP00000393596:V219F	V	+	1	0	BIRC6	32467331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.704000	0.92352	0.655000	0.94253	GTT		0.358	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		7	25	1	0	8.12818e-05	1	8.99451e-05	7	25				
ZNF177	7730	broad.mit.edu	37	19	9492206	9492206	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9492206A>G	ENST00000589262.1	+	6	1265	c.1199A>G	c.(1198-1200)cAg>cGg	p.Q400R	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Missense_Mutation_p.Q240R|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.Q240R|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.Q240R|ZNF177_ENST00000434737.2_Missense_Mutation_p.Q400R	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	400					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAGTGTAACCAGTGTGGAAAG	0.458																																						ENST00000541595.2																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(718-720)cAg>cGg		zinc finger protein 177							165.0	163.0	164.0					19																	9492206		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492206A>G	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1199A>G	19.37:g.9492206A>G	ENSP00000468531:p.Gln400Arg					ZNF177_ENST00000434737.2_Missense_Mutation_p.Q400R|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.Q240R|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.Q240R|ZNF177_ENST00000589262.1_Missense_Mutation_p.Q400R	p.Q240R	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN			12	1348	+			240					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.719A>G	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	A	8.097	0.775822	0.16051	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.35605	1.3;1.3;1.3	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	N	0.25286	0.73	0.22796	N	0.99873	B;B	0.18013	0.025;0.025	B;B	0.20384	0.029;0.029	T	0.28490	-1.0042	8	0.66056	D	0.02	.	8.8383	0.35126	1.0:0.0:0.0:0.0	.	400;240	B4DY57;Q13360	.;ZN177_HUMAN	R	240;240;400	ENSP00000445323:Q240R;ENSP00000341497:Q240R;ENSP00000415070:Q400R	ENSP00000341497:Q240R	Q	+	2	0	ZNF177	9353206	0.000000	0.05858	0.072000	0.20136	0.587000	0.36485	0.366000	0.20365	1.404000	0.46819	0.460000	0.39030	CAG		0.458	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		11	136	0	0	0	1	0	11	136				
MGME1	92667	broad.mit.edu	37	20	17970728	17970728	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17970728T>C	ENST00000377704.4	+	3	744	c.658T>C	c.(658-660)Tca>Cca	p.S220P	MGME1_ENST00000377709.1_Silent_p.I257I|MGME1_ENST00000377710.5_Silent_p.I337I|MGME1_ENST00000467391.1_3'UTR					mitochondrial genome maintenance exonuclease 1																		ACCAGAATATTCAGAAACCAG	0.418																																						ENST00000377704.4																			0											c.(658-660)Tca>Cca		mitochondrial genome maintenance exonuclease 1							54.0	55.0	55.0					20																	17970728		2203	4300	6503	SO:0001583	missense	92667							g.chr20:17970728T>C		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377704.4:c.658T>C	20.37:g.17970728T>C	ENSP00000366933:p.Ser220Pro					MGME1_ENST00000377709.1_Silent_p.I257I|MGME1_ENST00000377710.5_Silent_p.I337I|MGME1_ENST00000467391.1_3'UTR	p.S220P							3	744	+									Missense_Mutation	SNP	ENST00000377704.4	37	c.658T>C		.	.	.	.	.	.	.	.	.	.	T	12.78	2.039187	0.35989	.	.	ENSG00000125871	ENST00000377704	T	0.53206	0.63	6.08	2.61	0.31194	.	.	.	.	.	T	0.35128	0.0921	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30966	-0.9960	6	0.39692	T	0.17	-0.7985	1.5295	0.02532	0.1352:0.1529:0.1585:0.5534	.	.	.	.	P	220	ENSP00000366933:S220P	ENSP00000366933:S220P	S	+	1	0	C20orf72	17918728	0.149000	0.22717	0.249000	0.24280	0.169000	0.22640	0.491000	0.22419	0.189000	0.20188	-0.331000	0.08364	TCA		0.418	MGME1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078141.1	NM_052865		5	40	0	0	0	1	0	5	40				
ZNF641	121274	broad.mit.edu	37	12	48741014	48741014	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48741014G>A	ENST00000544117.2	-	3	1027				ZNF641_ENST00000301042.3_Intron|ZNF641_ENST00000547026.1_Intron|ZNF641_ENST00000448928.3_Silent_p.G99G			Q96N77	ZN641_HUMAN	zinc finger protein 641						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CACAGGAGACGCCAAGGGAAG	0.527																																						ENST00000448928.3																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(295-297)ggC>ggT		zinc finger protein 641							62.0	58.0	60.0					12																	48741014		2203	4300	6503	SO:0001627	intron_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48741014G>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.318+20C>T	12.37:g.48741014G>A						ZNF641_ENST00000544117.2_Intron|ZNF641_ENST00000301042.3_Intron|ZNF641_ENST00000547026.1_Intron	p.G99G	NM_001172682.1	NP_001166153.1	Q96N77	ZN641_HUMAN			3	352	-			117					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	37	c.297C>T	CCDS8763.1																																																																																				0.527	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		15	22	0	0	0	1	0	15	22				
ANKRD30B	374860	broad.mit.edu	37	18	14752923	14752923	+	Missense_Mutation	SNP	C	C	T	rs541728454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:14752923C>T	ENST00000358984.4	+	3	602	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.T141M	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	141										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TATGGCAACACGGCTCTCCAT	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15528	0.0		0.0	False		,,,				2504	0.0					ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(421-423)aCg>aTg		ankyrin repeat domain 30B							177.0	153.0	160.0					18																	14752923		692	1591	2283	SO:0001583	missense	374860							g.chr18:14752923C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.422C>T	18.37:g.14752923C>T	ENSP00000351875:p.Thr141Met					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.T141M	p.T141M	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			3	602	+			141					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.422C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	11.14	1.552311	0.27739	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	D;D	0.85556	-2.0;-2.0	1.61	1.61	0.23674	.	.	.	.	.	D	0.92270	0.7548	M	0.92169	3.28	0.32394	N	0.552864	D	0.89917	1.0	D	0.75020	0.985	D	0.90262	0.4301	9	0.87932	D	0	.	6.7204	0.23327	0.0:1.0:0.0:0.0	.	141	F8WAG3	.	M	141	ENSP00000351875:T141M;ENSP00000399031:T141M	ENSP00000351875:T141M	T	+	2	0	ANKRD30B	14742923	0.992000	0.36948	0.039000	0.18376	0.010000	0.07245	2.684000	0.46951	1.223000	0.43536	0.299000	0.19835	ACG		0.428	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	5	0	0	0	1	0	5	5				
MROH7	374977	broad.mit.edu	37	1	55168311	55168311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55168311C>A	ENST00000421030.2	+	21	3742	c.3457C>A	c.(3457-3459)Ctg>Atg	p.L1153M	MROH7_ENST00000454855.2_Missense_Mutation_p.L671M|MROH7_ENST00000409996.1_Missense_Mutation_p.L721M|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.L1153M	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1153						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGTGAAGACCCTGTTACGCTG	0.448																																						ENST00000414150.2																			0											c.(3457-3459)Ctg>Atg		maestro heat-like repeat family member 7							110.0	107.0	108.0					1																	55168311		1900	4125	6025	SO:0001583	missense	374977							g.chr1:55168311C>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3457C>A	1.37:g.55168311C>A	ENSP00000396622:p.Leu1153Met					MROH7_ENST00000454855.2_Missense_Mutation_p.L671M|MROH7_ENST00000409996.1_Missense_Mutation_p.L721M|MROH7_ENST00000421030.2_Missense_Mutation_p.L1153M	p.L1153M							21	3735	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.3457C>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715014	0.48622	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.97	2.96	0.34315	Armadillo-like helical (1);Armadillo-type fold (1);	0.465762	0.18123	N	0.150999	T	0.64735	0.2625	M	0.81942	2.565	0.36323	D	0.858371	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.70029	-0.4984	10	0.59425	D	0.04	-10.0738	6.0935	0.20007	0.0:0.7718:0.0:0.2282	.	1153;1152	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	M	1153;1182;721;671;222	ENSP00000396622:L1153M;ENSP00000387048:L721M;ENSP00000401130:L671M;ENSP00000360336:L222M	ENSP00000360336:L222M	L	+	1	2	HEATR8	54940899	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.467000	0.35321	1.328000	0.45358	0.561000	0.74099	CTG		0.448	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		5	58	1	0	0.000602214	1	0.000649039	5	58				
THTPA	79178	broad.mit.edu	37	14	24026216	24026216	+	Missense_Mutation	SNP	G	G	A	rs561860798		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026216G>A	ENST00000288014.6	+	1	986	c.250G>A	c.(250-252)Gcg>Acg	p.A84T	THTPA_ENST00000556015.1_Missense_Mutation_p.A84T|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.A84T|THTPA_ENST00000404535.3_Missense_Mutation_p.A84T|THTPA_ENST00000554970.1_Missense_Mutation_p.A84T			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	84	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GGAACTCACAGCGGAACCTAC	0.602																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(250-252)Gcg>Acg		thiamine triphosphatase	Thiamine(DB00152)						100.0	88.0	92.0					14																	24026216		2203	4300	6503	SO:0001583	missense	0				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026216G>A	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.250G>A	14.37:g.24026216G>A	ENSP00000288014:p.Ala84Thr					THTPA_ENST00000404535.3_Missense_Mutation_p.A84T|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.A84T|THTPA_ENST00000554970.1_Missense_Mutation_p.A84T|THTPA_ENST00000554789.1_Missense_Mutation_p.A84T	p.A84T			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	986	+	all_cancers(95;0.000251)		84					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.250G>A	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130023	0.37630	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.38	4.45	0.53987	CYTH domain (2);CYTH-like domain (1);	0.589584	0.19217	N	0.119785	T	0.34424	0.0897	L	0.61387	1.9	0.21675	N	0.999595	P;P	0.36412	0.465;0.552	B;B	0.31101	0.124;0.087	T	0.17623	-1.0363	10	0.14656	T	0.56	-0.5179	10.4551	0.44546	0.0:0.0:0.5608:0.4392	.	84;84	G3V4J3;Q9BU02	.;THTPA_HUMAN	T	84	ENSP00000384580:A84T;ENSP00000288014:A84T;ENSP00000452281:A84T;ENSP00000451835:A84T;ENSP00000452465:A84T;ENSP00000450459:A84T	ENSP00000288014:A84T	A	+	1	0	THTPA	23096056	0.587000	0.26791	0.933000	0.37362	0.948000	0.59901	2.745000	0.47459	1.398000	0.46701	0.655000	0.94253	GCG		0.602	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			19	37	0	0	0	1	0	19	37				
OR51F2	119694	broad.mit.edu	37	11	4842974	4842974	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4842974G>T	ENST00000322110.5	+	1	424	c.359G>T	c.(358-360)gGa>gTa	p.G120V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTACACGGATTTACTTTC	0.468																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(358-360)gGa>gTa		olfactory receptor, family 51, subfamily F, member 2							192.0	169.0	177.0					11																	4842974		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842974G>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.359G>T	11.37:g.4842974G>T	ENSP00000323952:p.Gly120Val					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.G120V	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	424	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	120					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.359G>T	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	4.258	0.046979	0.08243	.	.	ENSG00000176925	ENST00000322110	T	0.12147	2.71	4.43	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.232583	0.22362	U	0.061061	T	0.13286	0.0322	N	0.25890	0.77	0.09310	N	0.999991	P	0.52316	0.952	P	0.55667	0.781	T	0.18555	-1.0333	10	0.16420	T	0.52	.	7.0031	0.24821	0.0:0.3419:0.4224:0.2357	.	120	Q8NH61	O51F2_HUMAN	V	120	ENSP00000323952:G120V	ENSP00000323952:G120V	G	+	2	0	OR51F2	4799550	0.000000	0.05858	0.886000	0.34754	0.981000	0.71138	0.514000	0.22786	0.553000	0.29044	0.561000	0.74099	GGA		0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		12	147	1	0	7.03913e-09	1	8.47891e-09	12	147				
SLC22A8	9376	broad.mit.edu	37	11	62768254	62768254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62768254G>A	ENST00000336232.2	-	3	510	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000545207.1_Silent_p.A34A|SLC22A8_ENST00000311438.8_Silent_p.A125A|SLC22A8_ENST00000430500.2_Silent_p.A125A|SLC22A8_ENST00000535878.1_Silent_p.A2A	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	125					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AGATAGACTGGGCCATCTCCT	0.542																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(373-375)gcC>gcT		solute carrier family 22 (organic anion transporter), member 8							176.0	127.0	144.0					11																	62768254		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62768254G>A	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.375C>T	11.37:g.62768254G>A						SLC22A8_ENST00000545207.1_Silent_p.A34A|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Silent_p.A125A|SLC22A8_ENST00000535878.1_Silent_p.A2A|SLC22A8_ENST00000311438.8_Silent_p.A125A	p.A125A	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			3	510	-			125					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.375C>T	CCDS8042.1																																																																																				0.542	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		13	26	0	0	0	1	0	13	26				
XYLT2	64132	broad.mit.edu	37	17	48432234	48432234	+	Missense_Mutation	SNP	G	G	A	rs199983537		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48432234G>A	ENST00000017003.2	+	4	873	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	XYLT2_ENST00000507602.1_Missense_Mutation_p.R275Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	275					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TACCTGCACCGGGAGGTGGTG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19053	0.0		0.0	False		,,,				2504	0.001					ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(823-825)cGg>cAg		xylosyltransferase II		G	GLN/ARG	0,4406		0,0,2203	49.0	48.0	49.0		824	4.6	1.0	17		49	3,8597	2.2+/-6.3	0,3,4297	no	missense	XYLT2	NM_022167.2	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	275/866	48432234	3,13003	2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48432234G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.824G>A	17.37:g.48432234G>A	ENSP00000017003:p.Arg275Gln					XYLT2_ENST00000507602.1_Missense_Mutation_p.R275Q	p.R275Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			4	873	+	Breast(11;7.18e-19)		275					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.824G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659683	0.67586	0.0	3.49E-4	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11169	2.8;2.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.90369	3.11	0.80722	D	1	P	0.48230	0.907	P	0.45343	0.477	T	0.41627	-0.9498	10	0.66056	D	0.02	-22.6377	17.6496	0.88159	0.0:0.0:1.0:0.0	.	275	Q9H1B5	XYLT2_HUMAN	Q	275	ENSP00000017003:R275Q;ENSP00000426501:R275Q	ENSP00000017003:R275Q	R	+	2	0	XYLT2	45787233	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	6.597000	0.74118	2.403000	0.81681	0.313000	0.20887	CGG		0.632	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		4	69	0	0	0	1	0	4	69				
KIAA1279	26128	broad.mit.edu	37	10	70775527	70775527	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775527A>C	ENST00000361983.4	+	7	1323	c.1221A>C	c.(1219-1221)aaA>aaC	p.K407N		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	407					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTGAGGCAAAAGAGTTCTTTC	0.403																																						ENST00000361983.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						c.(1219-1221)aaA>aaC		KIAA1279							158.0	145.0	149.0					10																	70775527		2203	4300	6503	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70775527A>C	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1221A>C	10.37:g.70775527A>C	ENSP00000354848:p.Lys407Asn						p.K407N	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN			7	1323	+			407					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.1221A>C	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107384	0.56291	.	.	ENSG00000198954	ENST00000361983	T	0.54479	0.57	5.62	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.64449	-0.6405	10	0.42905	T	0.14	-16.6584	9.4619	0.38789	0.6311:0.0:0.3689:0.0	.	407	Q96EK5	KBP_HUMAN	N	407	ENSP00000354848:K407N	ENSP00000354848:K407N	K	+	3	2	KIAA1279	70445533	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.156000	0.31712	0.138000	0.18790	0.528000	0.53228	AAA		0.403	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		11	142	0	0	0	1	0	11	142				
SDK1	221935	broad.mit.edu	37	7	4089042	4089042	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4089042C>A	ENST00000404826.2	+	18	2804	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M	SDK1_ENST00000389531.3_Missense_Mutation_p.L889M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	889	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTCAGTTCCTGTGGAACCC	0.577																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2665-2667)Ctg>Atg		sidekick cell adhesion molecule 1							95.0	80.0	85.0					7																	4089042		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4089042C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2665C>A	7.37:g.4089042C>A	ENSP00000385899:p.Leu889Met					SDK1_ENST00000389531.3_Missense_Mutation_p.L889M	p.L889M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2804	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	889			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2665C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310661	0.40895	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57436	0.4;0.4	5.13	5.13	0.70059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.210848	0.32488	N	0.006029	T	0.51856	0.1699	N	0.25890	0.77	0.28518	N	0.913226	P;D	0.53462	0.917;0.96	P;P	0.61003	0.694;0.882	T	0.46400	-0.9194	10	0.32370	T	0.25	.	8.1061	0.30887	0.1581:0.7626:0.0:0.0793	.	889;889	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	889	ENSP00000385899:L889M;ENSP00000374182:L889M	ENSP00000374182:L889M	L	+	1	2	SDK1	4055568	0.996000	0.38824	1.000000	0.80357	0.948000	0.59901	0.826000	0.27407	2.392000	0.81423	0.557000	0.71058	CTG		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	12	1	0	0.248553	1	0.25002	4	12				
ANG	283	broad.mit.edu	37	14	21161892	21161892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21161892C>T	ENST00000336811.6	+	2	769	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.R57W|RNASE4_ENST00000304704.4_Intron|ANG_ENST00000554073.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_Intron|RNASE4_ENST00000555597.1_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	57					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CATGAGGAGACGGGGCCTGAC	0.507																																						ENST00000336811.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5						c.(169-171)Cgg>Tgg		angiogenin, ribonuclease, RNase A family, 5							128.0	106.0	114.0					14																	21161892		2203	4300	6503	SO:0001583	missense	283				actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding	g.chr14:21161892C>T		CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"""Ribonucleases, RNase A"""	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.169C>T	14.37:g.21161892C>T	ENSP00000336762:p.Arg57Trp					RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.R57W|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_Intron	p.R57W	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)	2	769	+	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	57					Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	ENST00000336811.6	37	c.169C>T	CCDS9554.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647651	0.29246	.	.	ENSG00000214274	ENST00000336811;ENST00000397990	D;D	0.96073	-3.9;-3.9	4.57	-4.99	0.03010	Ribonuclease A, domain (4);	0.000000	0.48767	U	0.000167	D	0.97356	0.9135	H	0.96489	3.83	0.23232	N	0.998074	D	0.89917	1.0	D	0.91635	0.999	D	0.92002	0.5611	10	0.87932	D	0	.	4.9983	0.14251	0.5469:0.195:0.0:0.2581	.	57	P03950	ANGI_HUMAN	W	57	ENSP00000336762:R57W;ENSP00000381077:R57W	ENSP00000336762:R57W	R	+	1	2	ANG	20231732	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.365000	0.07573	-0.742000	0.04790	-0.230000	0.12252	CGG		0.507	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073731.3	NM_001097577		12	40	0	0	0	1	0	12	40				
PAK3	5063	broad.mit.edu	37	X	110406218	110406218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110406218G>T	ENST00000372010.1	+	10	1031	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	PAK3_ENST00000372007.5_Nonsense_Mutation_p.E182*|PAK3_ENST00000519681.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.E218*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.E197*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000360648.4_Nonsense_Mutation_p.E218*			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E182*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agaagaagaagaagatgaaAA	0.408										TSP Lung(19;0.15)																												ENST00000519681.1																			1	Substitution - Nonsense(1)	p.E182*(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(607-609)Gaa>Taa		p21 protein (Cdc42/Rac)-activated kinase 3							155.0	135.0	142.0					X																	110406218		2203	4300	6503	SO:0001587	stop_gained	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406218G>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.589G>T	X.37:g.110406218G>T	ENSP00000361080:p.Glu197*	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_Nonsense_Mutation_p.E197*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000360648.4_Nonsense_Mutation_p.E218*|PAK3_ENST00000372007.4_Nonsense_Mutation_p.E182*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.E218*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.E197*	p.E203*			O75914	PAK3_HUMAN			10	1049	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Nonsense_Mutation	SNP	ENST00000372010.1	37	c.607G>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	42	9.339266	0.99142	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	.	.	.	5.95	5.95	0.96441	.	0.063753	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	17.909	0.88928	0.0:0.0:1.0:0.0	.	.	.	.	X	182;182;197;203;182;218;218;203;197	.	ENSP00000262836:E197X	E	+	1	0	PAK3	110292874	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.414000	0.90238	2.504000	0.84457	0.600000	0.82982	GAA		0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		10	96	1	0	4.68919e-08	1	5.58064e-08	10	96				
LRPAP1	4043	broad.mit.edu	37	4	3526640	3526640	+	Missense_Mutation	SNP	G	G	T	rs559706967		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3526640G>T	ENST00000500728.2	-	2	489	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	115					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GTACCATTGAGGTTGCGTATG	0.468													.|||	1	0.000199681	0.0	0.0	5008	,	,		21939	0.0		0.0	False		,,,				2504	0.001					ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(343-345)Ctc>Atc		low density lipoprotein receptor-related protein associated protein 1							326.0	328.0	327.0					4																	3526640		2203	4300	6503	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3526640G>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.343C>A	4.37:g.3526640G>T	ENSP00000421922:p.Leu115Ile					LRPAP1_ENST00000296325.5_5'UTR	p.L115I	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	2	489	-			115					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.343C>A	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305999	0.40795	.	.	ENSG00000163956	ENST00000500728	T	0.56275	0.47	4.08	3.22	0.36961	Alpha-2-macroglobulin receptor-associated protein, domain 1 (3);	0.163547	0.49916	D	0.000139	T	0.60157	0.2247	M	0.84326	2.69	0.50467	D	0.999878	B	0.17268	0.021	B	0.37267	0.245	T	0.65957	-0.6042	10	0.62326	D	0.03	-30.7517	9.5059	0.39046	0.1079:0.0:0.8921:0.0	.	115	P30533	AMRP_HUMAN	I	115	ENSP00000421922:L115I	ENSP00000421922:L115I	L	-	1	0	LRPAP1	3496438	1.000000	0.71417	0.118000	0.21660	0.026000	0.11368	4.919000	0.63383	2.282000	0.76494	0.655000	0.94253	CTC		0.468	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			6	283	1	0	0.000157383	1	0.00017284	6	283				
DDR1	780	broad.mit.edu	37	6	30860315	30860315	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30860315C>T	ENST00000324771.8	+	10	1643	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	DDR1_ENST00000452441.1_Silent_p.I365I|DDR1_ENST00000376568.3_Silent_p.I365I|DDR1_ENST00000376575.3_Silent_p.I365I|DDR1_ENST00000376567.2_Silent_p.I365I|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000513240.1_Silent_p.I365I|DDR1_ENST00000376570.4_Silent_p.I365I|DDR1_ENST00000454612.2_Silent_p.I365I|DDR1_ENST00000376569.3_Silent_p.I365I|DDR1_ENST00000361741.4_Silent_p.I96I|DDR1_ENST00000418800.2_Silent_p.I365I|DDR1_ENST00000508312.1_Silent_p.I383I|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	365	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCTCCTTCATCTCTGGTAAGC	0.537																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1093-1095)atC>atT		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						63.0	69.0	67.0					6																	30860315		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30860315C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1095C>T	6.37:g.30860315C>T						DDR1_ENST00000361741.4_Silent_p.I96I|DDR1_ENST00000508312.1_Silent_p.I383I|DDR1_ENST00000376569.3_Silent_p.I365I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.I365I|DDR1_ENST00000376568.3_Silent_p.I365I|DDR1_ENST00000376575.3_Silent_p.I365I|DDR1_ENST00000376567.2_Silent_p.I365I|DDR1_ENST00000454612.2_Silent_p.I365I|DDR1_ENST00000452441.1_Silent_p.I365I|DDR1_ENST00000513240.1_Silent_p.I365I|DDR1_ENST00000418800.2_Silent_p.I365I	p.I365I			Q08345	DDR1_HUMAN			10	1643	+			365					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.1095C>T	CCDS34385.1																																																																																				0.537	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		27	42	0	0	0	1	0	27	42				
ROBO2	6092	broad.mit.edu	37	3	77614262	77614262	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77614262C>T	ENST00000461745.1	+	12	2740	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	614	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		AGATCCTGTGCGCACACAAGG	0.468																																						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.(1840-1842)Cgc>Tgc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							130.0	129.0	129.0					3																	77614262		1971	4157	6128	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.chr3:77614262C>T	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.1840C>T	3.37:g.77614262C>T	ENSP00000417164:p.Arg614Cys					ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C	p.R614C	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)	12	2740	+			614					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1840C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157547	0.78114	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	D;D;D	0.82893	-1.66;-1.66;-1.66	6.02	6.02	0.97574	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000320	D	0.91304	0.7258	M	0.71581	2.175	0.41715	D	0.989473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91054	0.4880	9	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	630;614;614	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	630;630;634;614;614;335	ENSP00000417335:R630C;ENSP00000417164:R614C;ENSP00000327536:R614C	ENSP00000327536:R614C	R	+	1	0	ROBO2	77696952	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.140000	0.58031	2.857000	0.98124	0.650000	0.86243	CGC		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		31	40	0	0	0	1	0	31	40				
MED12	9968	broad.mit.edu	37	X	70349265	70349265	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349265C>A	ENST00000374080.3	+	26	3709	c.3677C>A	c.(3676-3678)gCt>gAt	p.A1226D	MED12_ENST00000333646.6_Missense_Mutation_p.A1226D|MED12_ENST00000374102.1_Missense_Mutation_p.A1226D			Q93074	MED12_HUMAN	mediator complex subunit 12	1226					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTCTCAAGGCTGTGTTTGTA	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3676-3678)gCt>gAt		mediator complex subunit 12							46.0	48.0	47.0					X																	70349265		2079	4185	6264	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349265C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3677C>A	X.37:g.70349265C>A	ENSP00000363193:p.Ala1226Asp		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.A1226D|MED12_ENST00000374080.3_Missense_Mutation_p.A1226D	p.A1226D	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3876	+	Renal(35;0.156)		1226					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3677C>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.332634	0.81801	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.991;0.961;0.994;0.981	T	0.53620	-0.8413	10	0.87932	D	0	-13.8606	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1226;1073;1226;1226	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	D	1226;1226;1226;1226;1194	ENSP00000333125:A1226D;ENSP00000363215:A1226D;ENSP00000363193:A1226D;ENSP00000414203:A1194D	ENSP00000333125:A1226D	A	+	2	0	MED12	70265990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.084000	0.76866	2.509000	0.84616	0.529000	0.55759	GCT		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		20	16	1	0	4.35082e-09	1	5.25983e-09	20	16				
HOXD12	3238	broad.mit.edu	37	2	176964817	176964817	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176964817G>A	ENST00000406506.2	+	1	360	c.288G>A	c.(286-288)gaG>gaA	p.E96E	HOXD12_ENST00000404162.2_Silent_p.E96E			P35452	HXD12_HUMAN	homeobox D12	96					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GACCCGAAGAGCAGGCTAAGT	0.706																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(286-288)gaG>gaA		homeobox D12							8.0	10.0	9.0					2																	176964817		1841	4073	5914	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964817G>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.288G>A	2.37:g.176964817G>A						HOXD12_ENST00000404162.2_Silent_p.E96E	p.E96E			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	360	+			96					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.288G>A	CCDS46456.1																																																																																				0.706	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		4	7	0	0	0	1	0	4	7				
ZNF157	7712	broad.mit.edu	37	X	47272857	47272857	+	Missense_Mutation	SNP	G	G	A	rs138071941		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272857G>A	ENST00000377073.3	+	4	1471	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	462					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAACATCAGCGAATTCACACA	0.458																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1384-1386)cGa>cAa		zinc finger protein 157		G	GLN/ARG	1,3834		0,1,1631,571	73.0	64.0	67.0		1385	1.0	1.0	X	dbSNP_134	67	0,6728		0,0,2428,1872	no	missense	ZNF157	NM_003446.3	43	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	462/507	47272857	1,10562	2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272857G>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1385G>A	X.37:g.47272857G>A	ENSP00000366273:p.Arg462Gln						p.R462Q	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1471	+			462					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1385G>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222630	0.58668	2.61E-4	0.0	ENSG00000147117	ENST00000377073	T	0.24723	1.84	3.12	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17023	0.0409	L	0.53617	1.68	0.21184	N	0.999764	P	0.38473	0.633	B	0.27170	0.077	T	0.24548	-1.0157	9	0.72032	D	0.01	.	2.2447	0.04028	0.3278:0.0:0.4294:0.2427	.	462	P51786	ZN157_HUMAN	Q	462	ENSP00000366273:R462Q	ENSP00000366273:R462Q	R	+	2	0	ZNF157	47157801	0.023000	0.18921	0.992000	0.48379	0.988000	0.76386	1.515000	0.35845	0.115000	0.18071	0.600000	0.82982	CGA		0.458	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		23	25	0	0	0	1	0	23	25				
GAA	2548	broad.mit.edu	37	17	78085806	78085806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78085806C>T	ENST00000302262.3	+	12	1880	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	GAA_ENST00000390015.3_Missense_Mutation_p.A554V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	554					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACCCTCCAGGCGGCCACCATC	0.667																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1660-1662)gCg>gTg		glucosidase, alpha; acid	Acarbose(DB00284)						81.0	70.0	74.0					17																	78085806		2203	4300	6503	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78085806C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1661C>T	17.37:g.78085806C>T	ENSP00000305692:p.Ala554Val					GAA_ENST00000390015.3_Missense_Mutation_p.A554V	p.A554V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		12	1880	+	all_neural(118;0.117)		554					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.1661C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323528	0.41096	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91521	-2.86;-2.86	4.65	3.66	0.41972	Glycoside hydrolase, superfamily (1);	0.206634	0.42294	D	0.000731	D	0.83478	0.5263	L	0.35723	1.085	0.31162	N	0.704262	B	0.34103	0.437	B	0.29598	0.104	T	0.77981	-0.2383	10	0.15952	T	0.53	-5.8626	13.6451	0.62277	0.1566:0.8434:0.0:0.0	.	554	P10253	LYAG_HUMAN	V	554	ENSP00000305692:A554V;ENSP00000374665:A554V	ENSP00000305692:A554V	A	+	2	0	GAA	75700401	0.815000	0.29118	0.976000	0.42696	0.309000	0.27889	3.430000	0.52807	0.910000	0.36722	-0.182000	0.12963	GCG		0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			10	20	0	0	0	1	0	10	20				
LGR4	55366	broad.mit.edu	37	11	27389979	27389979	+	Missense_Mutation	SNP	G	G	A	rs556032916		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27389979G>A	ENST00000379214.4	-	18	2734	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	LGR4_ENST00000389858.4_Missense_Mutation_p.A740V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	764					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGAAAAAAACGCCACAGGGCA	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		17845	0.0		0.0	False		,,,				2504	0.001					ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2290-2292)gCg>gTg		leucine-rich repeat containing G protein-coupled receptor 4							100.0	103.0	102.0					11																	27389979		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389979G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2291C>T	11.37:g.27389979G>A	ENSP00000368516:p.Ala764Val					LGR4_ENST00000389858.4_Missense_Mutation_p.A740V	p.A764V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2734	-			764					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2291C>T	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547853	0.86022	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.37584	1.19;1.19	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.106321	0.64402	D	0.000005	T	0.62600	0.2441	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.64525	-0.6387	10	0.87932	D	0	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	740;764	G5E9B3;Q9BXB1	.;LGR4_HUMAN	V	764;740	ENSP00000368516:A764V;ENSP00000374508:A740V	ENSP00000368516:A764V	A	-	2	0	LGR4	27346555	1.000000	0.71417	0.564000	0.28396	0.964000	0.63967	9.827000	0.99397	2.663000	0.90544	0.555000	0.69702	GCG		0.403	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		59	67	0	0	0	1	0	59	67				
CDH23	64072	broad.mit.edu	37	10	73563013	73563013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73563013C>A	ENST00000224721.6	+	54	7728	c.7723C>A	c.(7723-7725)Cca>Aca	p.P2575T	CDH23_ENST00000398788.3_Missense_Mutation_p.P330T|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2570	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACACAGCGGCCACTGCAGTC	0.607																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7723-7725)Cca>Aca		cadherin-related 23							23.0	29.0	27.0					10																	73563013		2088	4198	6286	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73563013C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7723C>A	10.37:g.73563013C>A	ENSP00000224721:p.Pro2575Thr					CDH23_ENST00000398788.3_Missense_Mutation_p.P330T|CDH23_ENST00000475158.1_3'UTR	p.P2575T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			54	7728	+			2570			Cadherin 24.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7723C>A		.	.	.	.	.	.	.	.	.	.	C	13.87	2.367574	0.42003	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01665	4.7	5.02	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.155107	0.44285	D	0.000463	T	0.02455	0.0075	N	0.17723	0.515	0.42845	D	0.994062	B;B	0.19583	0.037;0.005	B;B	0.35655	0.207;0.023	T	0.62402	-0.6862	10	0.15066	T	0.55	.	18.7068	0.91641	0.0:1.0:0.0:0.0	.	2570;2570	E9PEX1;Q9H251	.;CAD23_HUMAN	T	2575;2570;2573;330	ENSP00000381768:P330T	ENSP00000224721:P2575T	P	+	1	0	CDH23	73233019	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	4.845000	0.62853	2.492000	0.84095	0.551000	0.68910	CCA		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		7	8	1	0	0.00307968	1	0.00325696	7	8				
MUC5B	727897	broad.mit.edu	37	11	1256408	1256408	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1256408C>T	ENST00000529681.1	+	22	2782	c.2724C>T	c.(2722-2724)ggC>ggT	p.G908G	MUC5B_ENST00000447027.1_Silent_p.G911G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	908	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTTGATGGCGATCGCTACA	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2731-2733)ggC>ggT		mucin 5B, oligomeric mucus/gel-forming							71.0	83.0	79.0					11																	1256408		2132	4229	6361	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256408C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2724C>T	11.37:g.1256408C>T						MUC5B_ENST00000529681.1_Silent_p.G908G	p.G911G			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	22	2791	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	908			VWFC 1.|VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.2733C>T	CCDS44515.2																																																																																				0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	68	0	0	0	1	0	4	68				
ACMSD	130013	broad.mit.edu	37	2	135616830	135616830	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135616830G>T	ENST00000356140.5	+	3	238		c.e3-1		ACMSD_ENST00000392928.1_Splice_Site|MIR5590_ENST00000577826.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Splice_Site	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase						cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCTGCCCCAGGGAGAAGCAA	0.403																																						ENST00000356140.5																			0				endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14						c.e3-1		aminocarboxymuconate semialdehyde decarboxylase							103.0	105.0	104.0					2																	135616830		2203	4300	6503	SO:0001630	splice_region_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135616830G>T	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.103-1G>T	2.37:g.135616830G>T						ACMSD_ENST00000392928.1_Splice_Site|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Splice_Site		NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	3	238	+								Q3B7X3|Q53SR5|Q96KY2	Splice_Site	SNP	ENST00000356140.5	37		CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877777	0.72294	.	.	ENSG00000153086	ENST00000356140	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5518	0.91068	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACMSD	135333300	1.000000	0.71417	0.997000	0.53966	0.756000	0.42949	8.965000	0.93393	2.678000	0.91216	0.655000	0.94253	.		0.403	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		Intron	13	16	1	0	5.50884e-06	1	6.28354e-06	13	16				
PSRC1	84722	broad.mit.edu	37	1	109824315	109824315	+	Missense_Mutation	SNP	G	G	A	rs116061288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109824315G>A	ENST00000438534.2	-	4	583	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	PSRC1_ENST00000369907.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R149W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R149W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R149W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R149W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R149W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	149	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		TCATTACTCCGGAGTCGAGGC	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18298	0.0		0.0	False		,,,				2504	0.0					ENST00000438534.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(445-447)Cgg>Tgg		proline/serine-rich coiled-coil 1		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	71.0	70.0		445,445,445	4.7	1.0	1	dbSNP_132	70	0,8600		0,0,4300	no	missense,missense,missense	PSRC1	NM_001005290.3,NM_001032291.2,NM_032636.7	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	149/311,149/334,149/334	109824315	1,13005	2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824315G>A		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.445C>T	1.37:g.109824315G>A	ENSP00000413591:p.Arg149Trp					PSRC1_ENST00000369903.2_Missense_Mutation_p.R149W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R149W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R149W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R149W	p.R149W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	583	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	149			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.445C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.4	4.289719	0.80914	2.27E-4	0.0	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.62	4.69	0.59074	.	0.404264	0.23722	N	0.045212	T	0.61924	0.2386	L	0.50333	1.59	0.37882	D	0.930436	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.61003	0.882;0.882;0.882	T	0.68614	-0.5362	10	0.87932	D	0	-1.0169	12.3278	0.55022	0.0:0.17:0.83:0.0	.	149;149;149	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	W	149	ENSP00000386323:R149W;ENSP00000358923:R149W;ENSP00000413591:R149W;ENSP00000358925:R149W;ENSP00000358919:R149W	ENSP00000358919:R149W	R	-	1	2	PSRC1	109625838	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	2.446000	0.44908	1.320000	0.45209	0.555000	0.69702	CGG		0.577	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		27	109	0	0	0	1	0	27	109				
STRADB	55437	broad.mit.edu	37	2	202343240	202343240	+	Missense_Mutation	SNP	G	G	A	rs377072996		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202343240G>A	ENST00000194530.3	+	10	1351	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	STRADB_ENST00000392249.2_Missense_Mutation_p.R329Q	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	329	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AATAGTGACCGATTACACACA	0.418																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(985-987)cGa>cAa		STE20-related kinase adaptor beta		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	65.0	61.0	62.0		986,986	5.7	1.0	2		62	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	STRADB	NM_001206864.1,NM_018571.5	43,43	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	329/378,329/419	202343240	1,12999	2203	4297	6500	SO:0001583	missense	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202343240G>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.986G>A	2.37:g.202343240G>A	ENSP00000194530:p.Arg329Gln					STRADB_ENST00000392249.2_Missense_Mutation_p.R329Q	p.R329Q	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			10	1351	+			329			Protein kinase.		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	c.986G>A	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359515	0.82353	0.0	1.16E-4	ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392249;ENST00000392866	T;T	0.62364	0.03;0.04	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78496	0.4292	M	0.64997	1.995	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.77742	-0.2474	10	0.52906	T	0.07	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	329	Q9C0K7	STRAB_HUMAN	Q	329;329;329;191	ENSP00000194530:R329Q;ENSP00000376080:R329Q	ENSP00000194530:R329Q	R	+	2	0	STRADB	202051485	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	7.229000	0.78088	2.690000	0.91761	0.655000	0.94253	CGA		0.418	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		11	31	0	0	0	1	0	11	31				
CCDC65	85478	broad.mit.edu	37	12	49312551	49312551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49312551G>T	ENST00000320516.4	+	6	1079	c.891G>T	c.(889-891)aaG>aaT	p.K297N	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.K297N	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	297										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GTAATGACAAGGAATTGGTCC	0.458																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(889-891)aaG>aaT		coiled-coil domain containing 65							107.0	100.0	102.0					12																	49312551		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49312551G>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.891G>T	12.37:g.49312551G>T	ENSP00000312706:p.Lys297Asn					ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K297N	p.K297N			Q8IXS2	CCD65_HUMAN			6	1118	+			297					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.891G>T	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741681	0.49151	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.54675	1.15;0.56;1.16	4.72	2.89	0.33648	.	0.423946	0.24415	N	0.038731	T	0.63260	0.2496	M	0.75777	2.31	0.44515	D	0.997464	D	0.60575	0.988	P	0.58721	0.844	T	0.62144	-0.6916	10	0.29301	T	0.29	-29.8515	10.4018	0.44233	0.1727:0.0:0.8273:0.0	.	297	Q8IXS2	CCD65_HUMAN	N	297;194;297	ENSP00000266984:K297N;ENSP00000446569:K194N;ENSP00000312706:K297N	ENSP00000266984:K297N	K	+	3	2	CCDC65	47598818	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	2.444000	0.44890	1.364000	0.46038	0.655000	0.94253	AAG		0.458	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		11	74	1	0	3.03607e-14	1	3.87122e-14	11	74				
MYO9B	4650	broad.mit.edu	37	19	17322804	17322804	+	Silent	SNP	G	G	A	rs570571598		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322804G>A	ENST00000594824.1	+	40	6306	c.6159G>A	c.(6157-6159)acG>acA	p.T2053T	MYO9B_ENST00000595618.1_3'UTR|MYO9B_ENST00000397274.2_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2053	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTTCGTAACGGTCAGAGTGA	0.736																																						ENST00000594824.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(6157-6159)acG>acA		myosin IXB																																				SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17322804G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6159G>A	19.37:g.17322804G>A						MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR	p.T2053T			Q13459	MYO9B_HUMAN			40	6306	+			2053			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.6159G>A																																																																																					0.736	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	9	0	0	0	1	0	5	9				
TTN	7273	broad.mit.edu	37	2	179483382	179483382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483382T>C	ENST00000591111.1	-	201	42196	c.41972A>G	c.(41971-41973)aAa>aGa	p.K13991R	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K6567R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K6692R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13064R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K15632R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K6759R|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	13991	Ig-like 95.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTCCCTTTGTCTCCTTT	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(46894-46896)aAa>aGa		titin							144.0	132.0	136.0					2																	179483382		1816	4074	5890	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483382T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41972A>G	2.37:g.179483382T>C	ENSP00000465570:p.Lys13991Arg					TTN_ENST00000460472.2_Missense_Mutation_p.K6567R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13064R|TTN_ENST00000359218.5_Missense_Mutation_p.K6692R|TTN_ENST00000342175.6_Missense_Mutation_p.K6759R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K13991R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.K15632R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		251	47119	-			13991			Ig-like 98.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46895A>G		.	.	.	.	.	.	.	.	.	.	T	13.88	2.368682	0.42003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.48	-6.29	0.02013	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43299	0.1241	N	0.16478	0.41	0.24323	N	0.995039	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.003	T	0.35001	-0.9806	9	0.87932	D	0	.	6.3912	0.21587	0.2121:0.4189:0.0:0.369	.	6567;6692;6759;13991	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	13064;6567;6759;6692;6567	ENSP00000343764:K13064R;ENSP00000434586:K6567R;ENSP00000340554:K6759R;ENSP00000352154:K6692R	ENSP00000340554:K6759R	K	-	2	0	TTN	179191627	1.000000	0.71417	0.838000	0.33150	0.871000	0.50021	0.889000	0.28282	-1.188000	0.02705	-0.280000	0.10049	AAA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	103	0	0	0	1	0	10	103				
LRCH3	84859	broad.mit.edu	37	3	197559185	197559185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197559185G>A	ENST00000425562.2	+	8	1099	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	LRCH3_ENST00000536618.1_5'UTR|AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000441090.2_Missense_Mutation_p.G241R|LRCH3_ENST00000438796.2_Missense_Mutation_p.G367R|LRCH3_ENST00000334859.4_Missense_Mutation_p.G367R|LRCH3_ENST00000414675.2_Missense_Mutation_p.G367R			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	367						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AACAAACGGCGGAGGTAAACA	0.408																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1099-1101)Gga>Aga		leucine-rich repeats and calponin homology (CH) domain containing 3							63.0	60.0	61.0					3																	197559185		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197559185G>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1099G>A	3.37:g.197559185G>A	ENSP00000393579:p.Gly367Arg					LRCH3_ENST00000441090.2_Missense_Mutation_p.G241R|LRCH3_ENST00000414675.2_Missense_Mutation_p.G367R|LRCH3_ENST00000425562.2_Missense_Mutation_p.G367R|LRCH3_ENST00000334859.4_Missense_Mutation_p.G367R|LRCH3_ENST00000536618.1_5'UTR	p.G367R			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	8	1143	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		367					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1099G>A		.	.	.	.	.	.	.	.	.	.	G	17.43	3.386987	0.61956	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.29917	2.08;1.55;2.14;2.34;2.1	5.51	5.51	0.81932	.	0.135065	0.47455	D	0.000232	T	0.45296	0.1335	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.997	P;P;D;P	0.64595	0.9;0.79;0.927;0.852	T	0.24977	-1.0145	10	0.44086	T	0.13	-20.0933	19.4531	0.94876	0.0:0.0:1.0:0.0	.	241;367;367;367	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	R	367;241;367;367;367	ENSP00000399751:G367R;ENSP00000394609:G241R;ENSP00000394965:G367R;ENSP00000334375:G367R;ENSP00000393579:G367R	ENSP00000334375:G367R	G	+	1	0	LRCH3	199043582	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	5.717000	0.68446	2.601000	0.87937	0.585000	0.79938	GGA		0.408	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		3	38	0	0	0	1	0	3	38				
TDRKH	11022	broad.mit.edu	37	1	151752494	151752494	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151752494G>A	ENST00000368822.1	-	4	987	c.354C>T	c.(352-354)atC>atT	p.I118I	TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000368827.6_Silent_p.I118I|TDRKH_ENST00000458431.2_Silent_p.I118I|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368823.1_Silent_p.I114I|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000368824.3_Silent_p.I118I			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	118					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCTGTCAGGATCTGATGGA	0.498																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(352-354)atC>atT		tudor and KH domain containing							168.0	168.0	168.0					1																	151752494		2013	4177	6190	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151752494G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.354C>T	1.37:g.151752494G>A						TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000458431.2_Silent_p.I118I|TDRKH_ENST00000368824.3_Silent_p.I118I|TDRKH_ENST00000368823.1_Silent_p.I114I|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Silent_p.I118I	p.I118I			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	987	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		118					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.354C>T	CCDS41394.1																																																																																				0.498	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		54	63	0	0	0	1	0	54	63				
ZNF660	285349	broad.mit.edu	37	3	44636358	44636358	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44636358A>G	ENST00000322734.2	+	3	1006	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAGTGTGGAAAAACTTTCAT	0.373																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(673-675)Aaa>Gaa		zinc finger protein 660							79.0	85.0	83.0					3																	44636358		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636358A>G	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.673A>G	3.37:g.44636358A>G	ENSP00000324605:p.Lys225Glu					RP11-944L7.4_ENST00000457331.1_RNA	p.K225E	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1006	+			225					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.673A>G	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380673	0.82792	.	.	ENSG00000144792	ENST00000322734	T	0.27104	1.69	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47728	0.1461	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.46512	-0.9186	8	.	.	.	.	12.9362	0.58316	1.0:0.0:0.0:0.0	.	225	Q6AZW8	ZN660_HUMAN	E	225	ENSP00000324605:K225E	.	K	+	1	0	ZNF660	44611362	0.599000	0.26891	0.994000	0.49952	0.997000	0.91878	2.701000	0.47094	1.943000	0.56356	0.528000	0.53228	AAA		0.373	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		7	93	0	0	0	1	0	7	93				
SLC3A2	6520	broad.mit.edu	37	11	62655901	62655901	+	Silent	SNP	G	G	A	rs138892942		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655901G>A	ENST00000377890.2	+	12	1797	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	SLC3A2_ENST00000535296.1_Silent_p.A512A|SLC3A2_ENST00000377891.2_Silent_p.A544A|SLC3A2_ENST00000377889.2_Silent_p.A481A|SLC3A2_ENST00000536981.1_Silent_p.A88A|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Silent_p.A442A|SLC3A2_ENST00000377892.1_Silent_p.A574A	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	543					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						ACTTCCACGCGTTCTCCGCTG	0.597																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(1720-1722)gcG>gcA		solute carrier family 3 (amino acid transporter heavy chain), member 2		G	,,,	1,4401	2.1+/-5.4	0,1,2200	82.0	77.0	79.0		1632,1443,1326,1629	-9.6	0.0	11	dbSNP_134	79	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC3A2	NM_001012662.2,NM_001012664.2,NM_001013251.2,NM_002394.5	,,,	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	,,,	544/632,481/569,442/530,543/631	62655901	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62655901G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1629G>A	11.37:g.62655901G>A						SLC3A2_ENST00000377891.2_Silent_p.A544A|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Silent_p.A512A|SLC3A2_ENST00000338663.7_Silent_p.A442A|SLC3A2_ENST00000536981.1_Silent_p.A88A|SLC3A2_ENST00000377889.2_Silent_p.A481A|SLC3A2_ENST00000377890.2_Silent_p.A543A	p.A574A			P08195	4F2_HUMAN			13	1946	+			543					Q13543	Silent	SNP	ENST00000377890.2	37	c.1722G>A	CCDS8039.2																																																																																				0.597	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		14	109	0	0	0	1	0	14	109				
RHBDF1	64285	broad.mit.edu	37	16	108627	108627	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:108627G>T	ENST00000262316.6	-	18	2422	c.2280C>A	c.(2278-2280)acC>acA	p.T760T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	760					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCAGCCCAAAGGTGAAGAGGA	0.587																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2278-2280)acC>acA		rhomboid 5 homolog 1 (Drosophila)							63.0	68.0	66.0					16																	108627		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108627G>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2280C>A	16.37:g.108627G>T							p.T760T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2422	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	760					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.2280C>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	8.462	0.855581	0.17106	.	.	ENSG00000007384	ENST00000448893	.	.	.	5.16	3.06	0.35304	.	.	.	.	.	T	0.59101	0.2169	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56025	-0.8047	4	.	.	.	-21.2257	9.5442	0.39271	0.0785:0.143:0.7785:0.0	.	.	.	.	H	137	.	.	P	-	2	0	RHBDF1	48627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.506000	0.66993	1.302000	0.44855	0.655000	0.94253	CCT		0.587	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		8	61	1	0	1.06961e-07	1	1.26574e-07	8	61				
PPP1R3A	5506	broad.mit.edu	37	7	113522168	113522168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113522168C>A	ENST00000284601.3	-	3	960	c.892G>T	c.(892-894)Gaa>Taa	p.E298*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	298					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTGGCTTCCAAATCTTCC	0.333																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(892-894)Gaa>Taa		protein phosphatase 1, regulatory subunit 3A							165.0	141.0	149.0					7																	113522168		2203	4300	6503	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113522168C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.892G>T	7.37:g.113522168C>A	ENSP00000284601:p.Glu298*						p.E298*	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			3	960	-			298					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.892G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116441	0.56505	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.92	4.11	0.48088	.	0.407794	0.23547	N	0.047004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-2.6119	9.4805	0.38898	0.0:0.7266:0.0:0.2734	.	.	.	.	X	298	.	ENSP00000284601:E298X	E	-	1	0	PPP1R3A	113309404	0.129000	0.22400	0.367000	0.25926	0.944000	0.59088	1.160000	0.31761	0.836000	0.34901	0.561000	0.74099	GAA		0.333	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		6	95	1	0	0.00198382	1	0.00210581	6	95				
IL18	3606	broad.mit.edu	37	11	112020819	112020819	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:112020819C>A	ENST00000280357.7	-	4	421	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	IL18_ENST00000524595.1_Missense_Mutation_p.D64Y|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.D68Y|IL18_ENST00000533858.1_5'UTR	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	68					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TCAGTCATATCTTCAAATAGA	0.343																																						ENST00000280357.7																			0											c.(202-204)Gat>Tat		interleukin 18 (interferon-gamma-inducing factor)							128.0	123.0	124.0					11																	112020819		1821	4072	5893	SO:0001583	missense	3606				angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity	g.chr11:112020819C>A	U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"""Interleukins and interleukin receptors"""	5986	protein-coding gene	gene with protein product	"""interferon-gamma-inducing factor"""	600953	"""interleukin 18 (interferon-gamma-inducing factor)"""			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.202G>T	11.37:g.112020819C>A	ENSP00000280357:p.Asp68Tyr					SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Missense_Mutation_p.D64Y|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000528832.1_Missense_Mutation_p.D68Y	p.D68Y	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)	4	421	-		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	68					O75599|Q6FGY3|Q6WWJ7	Missense_Mutation	SNP	ENST00000280357.7	37	c.202G>T	CCDS44731.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987391	0.35036	.	.	ENSG00000150782	ENST00000280357;ENST00000524595;ENST00000528832	.	.	.	4.97	4.05	0.47172	.	0.316696	0.26383	N	0.024687	T	0.71710	0.3372	M	0.74881	2.28	0.37969	D	0.93321	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.986	T	0.75755	-0.3206	9	0.87932	D	0	-19.4532	8.5618	0.33516	0.0:0.8988:0.0:0.1012	.	64;68;68	Q6WWJ7;Q14116;Q96KJ8	.;IL18_HUMAN;.	Y	68;64;68	.	ENSP00000280357:D68Y	D	-	1	0	IL18	111526029	0.534000	0.26362	1.000000	0.80357	0.049000	0.14656	1.062000	0.30555	2.740000	0.93945	0.650000	0.86243	GAT		0.343	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392409.1	NM_001562		5	81	1	0	0.248553	1	0.25002	5	81				
NCOA5	57727	broad.mit.edu	37	20	44691373	44691373	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44691373G>T	ENST00000290231.6	-	8	1470	c.1306C>A	c.(1306-1308)Ctc>Atc	p.L436I		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAGAGGCTGAGGATTTTGGCC	0.592																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1306-1308)Ctc>Atc		nuclear receptor coactivator 5							101.0	108.0	106.0					20																	44691373		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691373G>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1306C>A	20.37:g.44691373G>T	ENSP00000290231:p.Leu436Ile						p.L436I	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1470	-		Myeloproliferative disorder(115;0.0122)	436					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1306C>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185236	0.78677	.	.	ENSG00000124160	ENST00000290231	T	0.55234	0.53	5.54	5.54	0.83059	.	0.054856	0.85682	D	0.000000	T	0.69922	0.3165	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.66893	-0.5808	10	0.44086	T	0.13	-8.5165	18.6556	0.91452	0.0:0.0:1.0:0.0	.	436	Q9HCD5	NCOA5_HUMAN	I	436	ENSP00000290231:L436I	ENSP00000290231:L436I	L	-	1	0	NCOA5	44124780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.972000	0.93424	2.884000	0.98904	0.655000	0.94253	CTC		0.592	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		16	132	1	0	6.72482e-11	1	8.32712e-11	16	132				
ZNF490	57474	broad.mit.edu	37	19	12719982	12719982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12719982T>C	ENST00000311437.6	-	2	274	c.152A>G	c.(151-153)aAg>aGg	p.K51R	ZNF791_ENST00000343325.4_5'Flank|ZNF791_ENST00000446165.1_5'Flank|ZNF791_ENST00000458122.3_5'Flank|ZNF791_ENST00000540038.1_5'Flank|ZNF490_ENST00000465656.1_5'UTR	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTTTGAGTCTTGATGCTTTG	0.423																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(151-153)aAg>aGg		zinc finger protein 490							215.0	153.0	174.0					19																	12719982		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12719982T>C	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.152A>G	19.37:g.12719982T>C	ENSP00000311521:p.Lys51Arg					ZNF490_ENST00000465656.1_5'UTR	p.K51R	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			2	274	-			51						Missense_Mutation	SNP	ENST00000311437.6	37	c.152A>G	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	T	3.000	-0.206273	0.06180	.	.	ENSG00000188033	ENST00000311437	T	0.08102	3.13	1.12	-0.196	0.13232	Krueppel-associated box (1);	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.47222	-0.9134	9	0.14252	T	0.57	.	3.0836	0.06271	0.0:0.3593:0.0:0.6407	.	51	Q9ULM2	ZN490_HUMAN	R	51	ENSP00000311521:K51R	ENSP00000311521:K51R	K	-	2	0	ZNF490	12580982	0.091000	0.21658	0.001000	0.08648	0.172000	0.22775	-0.352000	0.07701	-0.116000	0.11893	0.260000	0.18958	AAG		0.423	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		5	32	0	0	0	1	0	5	32				
SPDYC	387778	broad.mit.edu	37	11	64940338	64940338	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64940338T>C	ENST00000377185.2	+	6	782	c.700T>C	c.(700-702)Tca>Cca	p.S234P	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TAAGCCTGTGTCATCCAAGTG	0.597																																						ENST00000377185.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(700-702)Tca>Cca		speedy/RINGO cell cycle regulator family member C							94.0	97.0	96.0					11																	64940338		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940338T>C	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.700T>C	11.37:g.64940338T>C	ENSP00000366390:p.Ser234Pro						p.S234P	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			6	782	+			234						Missense_Mutation	SNP	ENST00000377185.2	37	c.700T>C	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	T	9.888	1.203503	0.22121	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.36	0.735	0.18300	.	2.992650	0.02218	N	0.063765	T	0.28234	0.0697	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.14309	-1.0477	9	0.36615	T	0.2	.	4.2838	0.10844	0.0:0.2027:0.1861:0.6112	.	234	Q5MJ68	SPDYC_HUMAN	P	234	.	ENSP00000366390:S234P	S	+	1	0	SPDYC	64696914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.607000	0.05648	0.272000	0.22027	-0.250000	0.11733	TCA		0.597	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		14	62	0	0	0	1	0	14	62				
RIMS2	9699	broad.mit.edu	37	8	105257185	105257185	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105257185A>G	ENST00000436393.2	+	24	3671	c.3430A>G	c.(3430-3432)Aca>Gca	p.T1144A	RIMS2_ENST00000507740.1_Missense_Mutation_p.T940A|RIMS2_ENST00000339750.2_Missense_Mutation_p.T62A|RIMS2_ENST00000262231.10_Missense_Mutation_p.T965A|RIMS2_ENST00000406091.3_Missense_Mutation_p.T1126A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1188					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAAAGAAGTACAGAAACAGG	0.438										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2818-2820)Aca>Gca		regulating synaptic membrane exocytosis 2							132.0	135.0	134.0					8																	105257185		1956	4157	6113	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257185A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3430A>G	8.37:g.105257185A>G	ENSP00000390665:p.Thr1144Ala	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.T1126A|RIMS2_ENST00000436393.2_Missense_Mutation_p.T1144A|RIMS2_ENST00000262231.10_Missense_Mutation_p.T965A|RIMS2_ENST00000339750.2_Missense_Mutation_p.T62A	p.T940A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		18	3054	+			1188					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2818A>G		.	.	.	.	.	.	.	.	.	.	A	16.80	3.224310	0.58668	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.18810	2.72;2.41;2.41;2.28;2.71;2.2;2.19	4.81	4.81	0.61882	.	.	.	.	.	T	0.38161	0.1030	L	0.46157	1.445	0.80722	D	1	B;D;B;D;D	0.61697	0.255;0.982;0.114;0.974;0.99	B;D;B;D;D	0.73380	0.071;0.952;0.036;0.953;0.98	T	0.05886	-1.0858	9	0.38643	T	0.18	.	14.5269	0.67894	1.0:0.0:0.0:0.0	.	1188;1144;965;940;1126	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	A	1163;1126;1188;965;940;1133;1144;62;62	ENSP00000384892:T1126A;ENSP00000262231:T965A;ENSP00000423559:T940A;ENSP00000386228:T1133A;ENSP00000390665:T1144A;ENSP00000428478:T62A;ENSP00000342051:T62A	ENSP00000262231:T965A	T	+	1	0	RIMS2	105326361	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	7.151000	0.77411	2.028000	0.59812	0.528000	0.53228	ACA		0.438	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		50	66	0	0	0	1	0	50	66				
ELAVL4	1996	broad.mit.edu	37	1	50642804	50642804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:50642804G>T	ENST00000371823.4	+	3	518	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ELAVL4_ENST00000371824.1_Missense_Mutation_p.K98N|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000448907.2_Missense_Mutation_p.K101N|ELAVL4_ENST00000357083.4_Missense_Mutation_p.K115N|ELAVL4_ENST00000371827.1_Missense_Mutation_p.K98N|ELAVL4_ENST00000371819.1_Missense_Mutation_p.K103N|ELAVL4_ENST00000371821.1_Missense_Mutation_p.K103N|RP11-567C20.2_ENST00000442477.1_RNA	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	98	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTGATCCAAAGGATGCAGAGA	0.423																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(292-294)aaG>aaT		ELAV like neuron-specific RNA binding protein 4							105.0	97.0	100.0					1																	50642804		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642804G>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.294G>T	1.37:g.50642804G>T	ENSP00000360888:p.Lys98Asn					ELAVL4_ENST00000371823.4_Missense_Mutation_p.K98N|ELAVL4_ENST00000371827.1_Missense_Mutation_p.K98N|ELAVL4_ENST00000357083.4_Missense_Mutation_p.K115N|ELAVL4_ENST00000448907.2_Missense_Mutation_p.K101N|ELAVL4_ENST00000371821.1_Missense_Mutation_p.K103N|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371819.1_Missense_Mutation_p.K103N	p.K98N			P26378	ELAV4_HUMAN			3	551	+			98			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.294G>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375121	0.24857	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.5	4.59	0.56863	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.09291	0.0229	N	0.10685	0.025	0.80722	D	1	B;B;B;B;B;B;B	0.12013	0.002;0.005;0.002;0.002;0.001;0.001;0.002	B;B;B;B;B;B;B	0.15870	0.002;0.014;0.006;0.007;0.002;0.003;0.005	T	0.17684	-1.0361	10	0.15952	T	0.53	.	14.5497	0.68057	0.0698:0.0:0.9302:0.0	.	103;103;98;98;115;98;101	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	N	101;98;115;98;98;103;103	ENSP00000399939:K101N;ENSP00000360892:K98N;ENSP00000349594:K115N;ENSP00000360889:K98N;ENSP00000360888:K98N;ENSP00000360886:K103N;ENSP00000360884:K103N	ENSP00000349594:K115N	K	+	3	2	ELAVL4	50415391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.165000	0.64959	1.561000	0.49584	0.655000	0.94253	AAG		0.423	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		8	53	1	0	3.09899e-07	1	3.63227e-07	8	53				
NKX2-1	7080	broad.mit.edu	37	14	36988464	36988464	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36988464G>A	ENST00000518149.1	-	2	704	c.99C>T	c.(97-99)ggC>ggT	p.G33G	NKX2-1_ENST00000354822.5_Silent_p.G63G|NKX2-1_ENST00000522719.2_Silent_p.G33G|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Silent_p.G33G			P43699	NKX21_HUMAN	NK2 homeobox 1	33					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GAGCCCCGAGGCCGCCGCCCT	0.667			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(97-99)ggC>ggT		NK2 homeobox 1							8.0	10.0	10.0					14																	36988464		2168	4252	6420	SO:0001819	synonymous_variant	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988464G>A		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.99C>T	14.37:g.36988464G>A						RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Silent_p.G63G|NKX2-1_ENST00000522719.2_Silent_p.G33G|NKX2-1_ENST00000498187.2_Silent_p.G33G	p.G33G			P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	704	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		33					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	ENST00000518149.1	37	c.99C>T	CCDS9659.1																																																																																				0.667	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		5	3	0	0	0	1	0	5	3				
CYP7A1	1581	broad.mit.edu	37	8	59409377	59409377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59409377G>T	ENST00000301645.3	-	3	831	c.694C>A	c.(694-696)Cac>Aac	p.H232N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	232					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGGGCATTGTGCGCAGTCCTG	0.488									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(694-696)Cac>Aac		cytochrome P450, family 7, subfamily A, polypeptide 1							158.0	158.0	158.0					8																	59409377		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409377G>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.694C>A	8.37:g.59409377G>T	ENSP00000301645:p.His232Asn						p.H232N	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			3	831	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	232					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.694C>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290377	0.23478	.	.	ENSG00000167910	ENST00000301645	T	0.67698	-0.28	5.74	3.94	0.45596	.	0.099897	0.64402	D	0.000001	T	0.60932	0.2307	L	0.42245	1.32	0.42006	D	0.990915	P	0.38788	0.647	P	0.44946	0.465	T	0.56637	-0.7946	10	0.23302	T	0.38	-18.1068	9.4597	0.38776	0.2125:0.0:0.7875:0.0	.	232	P22680	CP7A1_HUMAN	N	232	ENSP00000301645:H232N	ENSP00000301645:H232N	H	-	1	0	CYP7A1	59571931	0.637000	0.27216	0.033000	0.17914	0.003000	0.03518	2.216000	0.42871	1.576000	0.49790	0.563000	0.77884	CAC		0.488	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		10	118	1	0	0.00621372	1	0.00652201	10	118				
HEPN1	641654	broad.mit.edu	37	11	124789722	124789722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124789722C>T	ENST00000408930.5	+	1	577	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	26						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACTAGGGATGCAAGGACCCTT	0.498																																						ENST00000408930.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(76-78)Caa>Taa		hepatocellular carcinoma, down-regulated 1							131.0	135.0	134.0					11																	124789722		1979	4166	6145	SO:0001587	stop_gained	641654					cytoplasm		g.chr11:124789722C>T	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.76C>T	11.37:g.124789722C>T	ENSP00000386143:p.Gln26*					HEPACAM_ENST00000298251.4_3'UTR	p.Q26*	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	577	+	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	26						Nonsense_Mutation	SNP	ENST00000408930.5	37	c.76C>T	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	C	36	5.892816	0.97074	.	.	ENSG00000221932	ENST00000408930	.	.	.	3.61	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.1287	0.36833	0.0:0.7767:0.2233:0.0	.	.	.	.	X	26	.	ENSP00000386143:Q26X	Q	+	1	0	HEPN1	124294932	0.000000	0.05858	0.002000	0.10522	0.200000	0.23975	0.242000	0.18087	0.827000	0.34685	0.313000	0.20887	CAA		0.498	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		19	28	0	0	0	1	0	19	28				
CLMN	79789	broad.mit.edu	37	14	95669561	95669561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95669561C>T	ENST00000298912.4	-	9	2238	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	709					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGCTTGAAATCCAGGCCTTCT	0.567																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2125-2127)Gat>Aat		calmin (calponin-like, transmembrane)							48.0	49.0	49.0					14																	95669561		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669561C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2125G>A	14.37:g.95669561C>T	ENSP00000298912:p.Asp709Asn						p.D709N	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2238	-			709					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2125G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056798	0.76074	.	.	ENSG00000165959	ENST00000298912	D	0.95272	-3.66	5.27	4.38	0.52667	.	0.000000	0.43260	D	0.000587	D	0.95300	0.8475	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	P	0.58013	0.831	D	0.94746	0.7923	10	0.66056	D	0.02	.	9.7137	0.40260	0.0:0.8353:0.0:0.1647	.	709	Q96JQ2	CLMN_HUMAN	N	709	ENSP00000298912:D709N	ENSP00000298912:D709N	D	-	1	0	CLMN	94739314	0.958000	0.32768	0.994000	0.49952	0.782000	0.44232	0.201000	0.17276	1.222000	0.43521	0.505000	0.49811	GAT		0.567	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			22	30	0	0	0	1	0	22	30				
SENP2	59343	broad.mit.edu	37	3	185318632	185318632	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185318632G>C	ENST00000296257.5	+	5	678	c.438G>C	c.(436-438)ctG>ctC	p.L146L	SENP2_ENST00000545472.1_Silent_p.L136L|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	146					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAGAGTCCTGCCTTCCTTTG	0.373																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(436-438)ctG>ctC		SUMO1/sentrin/SMT3 specific peptidase 2							179.0	189.0	186.0					3																	185318632		2203	4300	6503	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185318632G>C	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.438G>C	3.37:g.185318632G>C						SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Silent_p.L136L|SENP2_ENST00000427465.2_5'UTR	p.L146L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		5	678	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		146					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.438G>C	CCDS33902.1																																																																																				0.373	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		14	194	0	0	0	1	0	14	194				
FNBP4	23360	broad.mit.edu	37	11	47767694	47767694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47767694G>T	ENST00000263773.5	-	7	1171	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	387						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACACTGCAAAGATCCTCCTGA	0.383																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(1159-1161)Ctt>Att		formin binding protein 4							234.0	227.0	230.0					11																	47767694		1854	4098	5952	SO:0001583	missense	23360							g.chr11:47767694G>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1159C>A	11.37:g.47767694G>T	ENSP00000263773:p.Leu387Ile					FNBP4_ENST00000534003.1_5'UTR	p.L387I	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			7	1171	-			387					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1159C>A	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338967	0.24253	.	.	ENSG00000109920	ENST00000263773	T	0.33216	1.42	6.17	3.2	0.36748	.	0.277435	0.35466	N	0.003199	T	0.17577	0.0422	N	0.19112	0.55	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.23940	-1.0174	10	0.16420	T	0.52	-4.1718	10.3887	0.44156	0.0:0.242:0.4218:0.3362	.	387	Q8N3X1	FNBP4_HUMAN	I	387	ENSP00000263773:L387I	ENSP00000263773:L387I	L	-	1	0	FNBP4	47724270	0.338000	0.24775	0.372000	0.25991	0.998000	0.95712	1.071000	0.30666	0.425000	0.26087	0.655000	0.94253	CTT		0.383	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			24	173	1	0	3.6726e-16	1	4.7309e-16	24	173				
NUP133	55746	broad.mit.edu	37	1	229588289	229588289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229588289C>T	ENST00000261396.3	-	22	3173	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	NUP133_ENST00000485119.1_5'Flank|NUP133_ENST00000537506.1_Missense_Mutation_p.A1012T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1028					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTTGTGGTGCAGTCAATACT	0.448																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3082-3084)Gca>Aca		nucleoporin 133kDa							113.0	98.0	103.0					1																	229588289		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229588289C>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3082G>A	1.37:g.229588289C>T	ENSP00000261396:p.Ala1028Thr					NUP133_ENST00000537506.1_Missense_Mutation_p.A1012T|NUP133_ENST00000366679.1_Missense_Mutation_p.A957T	p.A1028T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			22	3173	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1028					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.3082G>A	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330469	0.60743	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.25912	1.77;1.78;1.77	5.54	5.54	0.83059	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.205295	0.51477	D	0.000092	T	0.34978	0.0916	L	0.54323	1.7	0.58432	D	0.999997	P	0.51537	0.946	P	0.51550	0.673	T	0.01925	-1.1246	10	0.22706	T	0.39	-21.0289	15.0248	0.71659	0.0:0.8582:0.1418:0.0	.	1028	Q8WUM0	NU133_HUMAN	T	957;1028;957;1012	ENSP00000261396:A1028T;ENSP00000355640:A957T;ENSP00000443496:A1012T	ENSP00000261396:A1028T	A	-	1	0	NUP133	227654912	1.000000	0.71417	0.117000	0.21633	0.477000	0.33069	4.169000	0.58223	2.589000	0.87451	0.655000	0.94253	GCA		0.448	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		6	69	0	0	0	1	0	6	69				
ARID4B	51742	broad.mit.edu	37	1	235377287	235377287	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235377287C>T	ENST00000264183.3	-	17	2135	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	ARID4B_ENST00000366603.2_Silent_p.E546E|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	546	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcctcctcctcctcctctt	0.393																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1636-1638)gaG>gaA		AT rich interactive domain 4B (RBP1-like)							157.0	151.0	153.0					1																	235377287		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377287C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1638G>A	1.37:g.235377287C>T						ARID4B_ENST00000366603.2_Silent_p.E546E|ARID4B_ENST00000349213.3_Intron	p.E546E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2135	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	546			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.1638G>A	CCDS31061.1																																																																																				0.393	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		46	50	0	0	0	1	0	46	50				
SMAD3	4088	broad.mit.edu	37	15	67473662	67473662	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67473662T>G	ENST00000327367.4	+	6	1052	c.742T>G	c.(742-744)Ttc>Gtc	p.F248V	SMAD3_ENST00000537194.2_Missense_Mutation_p.F53V|SMAD3_ENST00000540846.2_Missense_Mutation_p.F143V|SMAD3_ENST00000439724.3_Missense_Mutation_p.F204V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	248	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CGGGGAGACATTCCACGCCTC	0.602																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Ttc>Gtc		SMAD family member 3							80.0	66.0	71.0					15																	67473662		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473662T>G	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.742T>G	15.37:g.67473662T>G	ENSP00000332973:p.Phe248Val					SMAD3_ENST00000439724.3_Missense_Mutation_p.F204V|SMAD3_ENST00000540846.2_Missense_Mutation_p.F143V|SMAD3_ENST00000537194.2_Missense_Mutation_p.F53V	p.F248V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1052	+			248			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.742T>G	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640730	0.87859	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99705	1.1005	10	0.66056	D	0.02	.	15.1774	0.72924	0.0:0.0:0.0:1.0	.	204;248	B7Z4Z5;P84022	.;SMAD3_HUMAN	V	248;248;143;204;53	ENSP00000332973:F248V;ENSP00000437757:F143V;ENSP00000401133:F204V;ENSP00000445348:F53V	ENSP00000332973:F248V	F	+	1	0	SMAD3	65260716	1.000000	0.71417	0.922000	0.36590	0.669000	0.39330	7.893000	0.87330	2.035000	0.60131	0.454000	0.30748	TTC		0.602	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		3	36	0	0	0	1	0	3	36				
SPTA1	6708	broad.mit.edu	37	1	158612619	158612619	+	Silent	SNP	G	G	A	rs372099409	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612619G>A	ENST00000368147.4	-	32	4770	c.4590C>T	c.(4588-4590)gaC>gaT	p.D1530D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1530					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTTAGTGGCGTCTTTGTAGG	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		19257	0.0		0.0	False		,,,				2504	0.002					ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4588-4590)gaC>gaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G		0,3958		0,0,1979	181.0	173.0	176.0		4590	-0.8	1.0	1		176	1,8327		0,1,4163	no	coding-synonymous	SPTA1	NM_003126.2		0,1,6142	AA,AG,GG		0.012,0.0,0.0081		1530/2420	158612619	1,12285	1979	4164	6143	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612619G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4590C>T	1.37:g.158612619G>A						SPTA1_ENST00000368147.3_Silent_p.D1530D	p.D1530D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			32	4770	-	all_hematologic(112;0.0378)		1530					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4590C>T	CCDS41423.1																																																																																				0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		61	68	0	0	0	1	0	61	68				
C12orf43	64897	broad.mit.edu	37	12	121442055	121442055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121442055C>A	ENST00000288757.3	-	6	712	c.690G>T	c.(688-690)caG>caT	p.Q230H	C12orf43_ENST00000536407.2_3'UTR|RP11-216P16.2_ENST00000606238.1_RNA|C12orf43_ENST00000445832.3_Missense_Mutation_p.Q200H|C12orf43_ENST00000366211.2_Missense_Mutation_p.Q189H|C12orf43_ENST00000537817.1_Missense_Mutation_p.Q231H|C12orf43_ENST00000539736.1_Missense_Mutation_p.Q220H	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	230	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCGACACCTGGTCCCCGT	0.562																																						ENST00000445832.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(598-600)caG>caT		chromosome 12 open reading frame 43							229.0	225.0	226.0					12																	121442055		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121442055C>A	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.690G>T	12.37:g.121442055C>A	ENSP00000288757:p.Gln230His					C12orf43_ENST00000537817.1_Missense_Mutation_p.Q231H|C12orf43_ENST00000288757.3_Missense_Mutation_p.Q230H|C12orf43_ENST00000539736.1_Missense_Mutation_p.Q220H|C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000366211.2_Missense_Mutation_p.Q189H	p.Q200H			Q96C57	CL043_HUMAN			6	702	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		230			Lys-rich.		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.600G>T	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.29|14.29	2.492620|2.492620	0.44352|0.44352	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000536407;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367|ENST00000546272	T;T;T;T;T|.	0.47528|.	0.85;0.84;0.84;0.84;0.87|.	5.8|5.8	-4.88|-4.88	0.03113|0.03113	.|.	1.429430|.	0.04045|.	N|.	0.303735|.	T|T	0.24122|0.24122	0.0584|0.0584	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;D;B;B|.	0.65815|.	0.004;0.004;0.995;0.004;0.004|.	B;B;P;B;B|.	0.60236|.	0.006;0.006;0.871;0.006;0.006|.	T|T	0.35400|0.35400	-0.9790|-0.9790	10|5	0.44086|.	T|.	0.13|.	-1.5023|-1.5023	2.3941|2.3941	0.04386|0.04386	0.4533:0.1653:0.2445:0.137|0.4533:0.1653:0.2445:0.137	.|.	220;189;231;220;230|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	H|M	200;230;231;128;189;220;168;185|184	ENSP00000409788:Q200H;ENSP00000288757:Q230H;ENSP00000442224:Q231H;ENSP00000437803:Q220H;ENSP00000442041:Q168H|.	ENSP00000288757:Q230H|.	Q|R	-|-	3|2	2|0	C12orf43|C12orf43	119926438|119926438	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.602000|-1.602000	0.02079|0.02079	-0.459000|-0.459000	0.07013|0.07013	-0.165000|-0.165000	0.13383|0.13383	CAG|AGG		0.562	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		9	135	1	0	0.00829132	1	0.00869385	9	135				
VPS51	738	broad.mit.edu	37	11	64875106	64875106	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64875106C>T	ENST00000279281.3	+	3	504	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	138					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TGAGATGGACCGGCTGGCCAC	0.627																																						ENST00000279281.3																			0											c.(412-414)Cgg>Tgg		vacuolar protein sorting 51 homolog (S. cerevisiae)							71.0	59.0	63.0					11																	64875106		2201	4297	6498	SO:0001583	missense	738							g.chr11:64875106C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.412C>T	11.37:g.64875106C>T	ENSP00000279281:p.Arg138Trp					VPS51_ENST00000527646.1_3'UTR	p.R138W	NM_013265.2	NP_037397.2					3	504	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.412C>T	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079791	0.55753	.	.	ENSG00000149823	ENST00000279281;ENST00000529180;ENST00000526578;ENST00000534557	.	.	.	4.19	3.27	0.37495	.	0.489229	0.23340	N	0.049251	T	0.63616	0.2526	L	0.43923	1.385	0.38919	D	0.957695	D	0.76494	0.999	P	0.62491	0.903	T	0.66834	-0.5823	9	0.66056	D	0.02	-10.9494	10.6309	0.45536	0.0:0.6206:0.3794:0.0	.	138	Q9UID3	FFR_HUMAN	W	138;138;52;52	.	ENSP00000279281:R138W	R	+	1	2	C11orf2	64631682	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.154000	0.31688	0.977000	0.38444	0.536000	0.68110	CGG		0.627	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		8	32	0	0	0	1	0	8	32				
USP34	9736	broad.mit.edu	37	2	61441453	61441453	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441453G>T	ENST00000398571.2	-	68	8500	c.8424C>A	c.(8422-8424)gtC>gtA	p.V2808V	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2808					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTCAGCACAGACATTGTACC	0.413																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8422-8424)gtC>gtA		ubiquitin specific peptidase 34							176.0	163.0	167.0					2																	61441453		1942	4154	6096	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61441453G>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8424C>A	2.37:g.61441453G>T						USP34_ENST00000472689.1_Intron	p.V2808V	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8500	-			2808					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.8424C>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195689	0.09599	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.78	1.36	0.22044	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26916	-1.0089	4	.	.	.	.	3.8529	0.08963	0.1047:0.33:0.3946:0.1707	.	.	.	.	M	568	.	.	L	-	1	2	USP34	61294957	0.650000	0.27331	1.000000	0.80357	0.976000	0.68499	-0.134000	0.10436	0.350000	0.24002	-1.058000	0.02302	CTG		0.413	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			9	190	1	0	5.4927e-09	1	6.6252e-09	9	190				
SLC4A5	57835	broad.mit.edu	37	2	74452104	74452104	+	Missense_Mutation	SNP	C	C	T	rs144930405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74452104C>T	ENST00000377634.4	-	29	3556	c.3157G>A	c.(3157-3159)Gtt>Att	p.V1053I	SLC4A5_ENST00000357822.5_Missense_Mutation_p.V1053I|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V935I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V935I|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R977H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V956I|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V956I|SLC4A5_ENST00000394019.2_Missense_Mutation_p.V1037I|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCTTCGAACGATGATGAGG	0.453																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3109-3111)Gtt>Att		solute carrier family 4 (sodium bicarbonate cotransporter), member 5		C	ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	76.0	77.0	77.0		3157,3109	5.0	0.3	2	dbSNP_134	77	0,8600		0,0,4300	yes	missense,missense	SLC4A5	NM_021196.3,NM_133478.2	29,29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging	1053/1138,1037/1122	74452104	5,13001	2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74452104C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3157G>A	2.37:g.74452104C>T	ENSP00000366861:p.Val1053Ile					SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V935I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V935I|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V956I|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R977H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V1053I|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V1053I|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V956I	p.V1037I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			28	3506	-			1053						Missense_Mutation	SNP	ENST00000377634.4	37	c.3109G>A	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.68|13.68	2.310594|2.310594	0.40895|0.40895	0.001135|0.001135	0.0|0.0	ENSG00000188687|ENSG00000188687	ENST00000423644|ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634	T|T;T;T;T;T;T;T	0.72167|0.65178	-0.63|-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71384|0.71384	0.3333|0.3333	L|L	0.38175|0.38175	1.15|1.15	0.34200|0.34200	D|D	0.673046|0.673046	.|B;D;D;D	.|0.89917	.|0.379;1.0;0.999;0.995	.|B;D;D;D	.|0.91635	.|0.031;0.999;0.993;0.918	T|T	0.79364|0.79364	-0.1834|-0.1834	7|10	0.87932|0.72032	D|D	0|0.01	.|.	15.7929|15.7929	0.78380|0.78380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|956;935;1053;1037	.|Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3	.|.;.;S4A5_HUMAN;.	H|I	977|1037;1058;956;935;935;1053;956;1053	ENSP00000395804:R977H|ENSP00000377587:V1037I;ENSP00000251768:V956I;ENSP00000352461:V935I;ENSP00000351513:V935I;ENSP00000350475:V1053I;ENSP00000366859:V956I;ENSP00000366861:V1053I	ENSP00000395804:R977H|ENSP00000251768:V956I	R|V	-|-	2|1	0|0	SLC4A5|SLC4A5	74305612|74305612	0.998000|0.998000	0.40836|0.40836	0.339000|0.339000	0.25562|0.25562	0.213000|0.213000	0.24496|0.24496	3.938000|3.938000	0.56583|0.56583	2.580000|2.580000	0.87095|0.87095	0.609000|0.609000	0.83330|0.83330	CGT|GTT		0.453	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			12	22	0	0	0	1	0	12	22				
FAM207A	85395	broad.mit.edu	37	21	46380065	46380065	+	Missense_Mutation	SNP	C	C	T	rs369865339		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46380065C>T	ENST00000291634.6	+	3	382	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.R97C	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	112								p.R112C(1)									GAAGCTGAGGCGTGAGCAATG	0.567																																						ENST00000291634.6																			1	Substitution - Missense(1)	p.R112C(1)	large_intestine(1)								c.(334-336)Cgt>Tgt		family with sequence similarity 207, member A							127.0	100.0	109.0					21																	46380065		2203	4300	6503	SO:0001583	missense	85395							g.chr21:46380065C>T		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.334C>T	21.37:g.46380065C>T	ENSP00000291634:p.Arg112Cys					FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.R97C	p.R112C	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			3	382	+			112						Missense_Mutation	SNP	ENST00000291634.6	37	c.334C>T	CCDS13718.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109214	0.20714	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T;T	0.51071	0.72;0.72;0.72	3.24	2.33	0.28932	.	0.107337	0.64402	D	0.000018	T	0.64681	0.2620	M	0.80183	2.485	0.24522	N	0.994156	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.54262	-0.8320	10	0.87932	D	0	-7.2881	7.708	0.28661	0.2512:0.7488:0.0:0.0	.	97;112	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	C	112;97;97	ENSP00000291634:R112C;ENSP00000380926:R97C;ENSP00000404964:R97C	ENSP00000291634:R112C	R	+	1	0	C21orf70	45204493	0.359000	0.24955	0.034000	0.17996	0.110000	0.19582	0.888000	0.28268	0.903000	0.36546	0.650000	0.86243	CGT		0.567	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		17	42	0	0	0	1	0	17	42				
MIR518A1	574488	broad.mit.edu	37	19	54234339	54234339	+	RNA	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54234339T>G	ENST00000385068.1	+	0	80				MIR518E_ENST00000385252.1_RNA|RNU6-980P_ENST00000516925.1_RNA	NR_030210.1				microRNA 518a-1																		GGATTACGGTTTGAGAAAAAC	0.473																																						ENST00000385068.1																			0																				84.0	84.0	84.0					19																	54234339		1568	3582	5150			0							g.chr19:54234339T>G			19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54234339T>G								NR_030210.1						0	80	+									RNA	SNP	ENST00000385068.1	37																																																																																						0.473	MIR518A1-201	KNOWN	basic	miRNA	miRNA		NR_030210		39	52	0	0	0	1	0	39	52				
PCNXL2	80003	broad.mit.edu	37	1	233344278	233344278	+	Missense_Mutation	SNP	C	C	A	rs369115693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233344278C>A	ENST00000258229.9	-	13	3083	c.2849G>T	c.(2848-2850)aGg>aTg	p.R950M	PCNXL2_ENST00000430153.1_Missense_Mutation_p.R249M|PCNXL2_ENST00000488780.2_Missense_Mutation_p.R83M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	950						integral component of membrane (GO:0016021)		p.R950M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGTAGTCCCTAGCTGATTG	0.463																																						ENST00000258229.8																			1	Substitution - Missense(1)	p.R950M(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2848-2850)aGg>aTg		pecanex-like 2 (Drosophila)							77.0	71.0	73.0					1																	233344278		1851	4089	5940	SO:0001583	missense	80003					integral to membrane		g.chr1:233344278C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2849G>T	1.37:g.233344278C>A	ENSP00000258229:p.Arg950Met					PCNXL2_ENST00000488780.2_Missense_Mutation_p.R83M|PCNXL2_ENST00000430153.1_Missense_Mutation_p.R249M	p.R950M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			13	3083	-		all_cancers(173;0.0347)|Prostate(94;0.137)	950					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2849G>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670908	0.88348	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.8	5.8	0.92144	.	.	.	.	.	D	0.84370	0.5457	M	0.82517	2.595	0.39052	D	0.960351	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.86489	0.1796	9	0.87932	D	0	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	249;950	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	M	950;83;119;249	ENSP00000258229:R950M;ENSP00000430820:R83M;ENSP00000429231:R119M;ENSP00000394703:R249M	ENSP00000258229:R950M	R	-	2	0	PCNXL2	231410901	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.254000	0.65457	2.735000	0.93741	0.655000	0.94253	AGG		0.463	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		6	30	1	0	0.0215528	1	0.0221649	6	30				
MBD6	114785	broad.mit.edu	37	12	57919917	57919917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57919917C>A	ENST00000355673.3	+	6	1522	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	MBD6_ENST00000431731.2_Missense_Mutation_p.P389H	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	389	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CGGAGCCGTCCTCGGGCCCCT	0.622																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1165-1167)cCt>cAt		methyl-CpG binding domain protein 6							72.0	79.0	77.0					12																	57919917		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919917C>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1166C>A	12.37:g.57919917C>A	ENSP00000347896:p.Pro389His					MBD6_ENST00000431731.2_Missense_Mutation_p.P389H	p.P389H	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1522	+			389			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1166C>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.176218	0.38413	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.97	3.97	0.46021	.	0.000000	0.48767	D	0.000172	T	0.46308	0.1386	N	0.08118	0	0.44194	D	0.997011	D;D	0.89917	0.999;1.0	D;D	0.73380	0.975;0.98	T	0.39078	-0.9631	8	.	.	.	-4.6531	7.7269	0.28765	0.0:0.8853:0.0:0.1147	.	389;389	Q6P0P0;Q96DN6	.;MBD6_HUMAN	H	389	.	.	P	+	2	0	MBD6	56206184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.177000	0.50871	2.203000	0.70933	0.556000	0.70494	CCT		0.622	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			21	36	1	0	1.01871e-10	1	1.25892e-10	21	36				
TIMM21	29090	broad.mit.edu	37	18	71825417	71825417	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:71825417A>G	ENST00000169551.6	+	5	846	c.548A>G	c.(547-549)tAt>tGt	p.Y183C		NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	183					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											TTCACTGAATATGTAAAAGAT	0.453																																						ENST00000169551.6																			0											c.(547-549)tAt>tGt		translocase of inner mitochondrial membrane 21 homolog (yeast)							84.0	87.0	86.0					18																	71825417		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71825417A>G	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.548A>G	18.37:g.71825417A>G	ENSP00000169551:p.Tyr183Cys						p.Y183C	NM_014177.2	NP_054896.2	Q9BVV7	TI21L_HUMAN			5	846	+			183					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.548A>G	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	A	7.817	0.716923	0.15372	.	.	ENSG00000075336	ENST00000169551	T	0.52526	0.66	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.77138	-0.2698	10	0.66056	D	0.02	-15.1119	15.6989	0.77528	1.0:0.0:0.0:0.0	.	183	Q9BVV7	TI21L_HUMAN	C	183	ENSP00000169551:Y183C	ENSP00000169551:Y183C	Y	+	2	0	C18orf55	69976397	1.000000	0.71417	0.120000	0.21714	0.088000	0.18126	5.957000	0.70323	2.109000	0.64355	0.450000	0.29827	TAT		0.453	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		5	35	0	0	0	1	0	5	35				
TGFBR2	7048	broad.mit.edu	37	3	30713915	30713915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30713915G>A	ENST00000295754.5	+	4	1622	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	TGFBR2_ENST00000359013.4_Missense_Mutation_p.A439T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATGACCTGGCTAACAGTGG	0.522																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1240-1242)Gct>Act		transforming growth factor, beta receptor II (70/80kDa)							220.0	199.0	206.0					3																	30713915		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713915G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1240G>A	3.37:g.30713915G>A	ENSP00000295754:p.Ala414Thr					TGFBR2_ENST00000359013.4_Missense_Mutation_p.A439T	p.A414T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1622	+			414			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1240G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816469	0.90790	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.64991	-0.13;-0.13	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74247	-0.3727	10	0.66056	D	0.02	.	18.5964	0.91230	0.0:0.0:1.0:0.0	.	414;439	P37173;D2JYI1	TGFR2_HUMAN;.	T	414;439;244	ENSP00000295754:A414T;ENSP00000351905:A439T	ENSP00000295754:A414T	A	+	1	0	TGFBR2	30688919	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.864000	0.99589	2.391000	0.81399	0.650000	0.86243	GCT		0.522	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			65	100	0	0	0	1	0	65	100				
CD109	135228	broad.mit.edu	37	6	74520848	74520848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74520848G>A	ENST00000287097.5	+	28	3792	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	CD109_ENST00000437994.2_Intron|CD109_ENST00000422508.2_Missense_Mutation_p.R1150H			Q6YHK3	CD109_HUMAN	CD109 molecule	1227					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R1227L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACACACAACCGCTTACTCCTT	0.428																																						ENST00000422508.2																			1	Substitution - Missense(1)	p.R1227L(1)	large_intestine(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3448-3450)cGc>cAc		CD109 molecule							93.0	86.0	88.0					6																	74520848		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74520848G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3680G>A	6.37:g.74520848G>A	ENSP00000287097:p.Arg1227His					CD109_ENST00000287097.5_Missense_Mutation_p.R1227H|CD109_ENST00000437994.2_Intron	p.R1150H	NM_001159588.1	NP_001153060.1	Q6YHK3	CD109_HUMAN			27	3880	+			1227					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3449G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614688	0.46631	.	.	ENSG00000156535	ENST00000422508;ENST00000287097	T;T	0.26223	1.97;1.75	5.2	4.3	0.51218	.	0.180440	0.51477	D	0.000083	T	0.26011	0.0634	M	0.76170	2.325	0.25810	N	0.984406	D;P	0.60575	0.988;0.519	P;B	0.51324	0.666;0.07	T	0.07385	-1.0775	10	0.39692	T	0.17	.	14.9064	0.70724	0.0:0.0:0.8557:0.1443	.	1150;1227	Q6YHK3-2;Q6YHK3	.;CD109_HUMAN	H	1150;1227	ENSP00000404475:R1150H;ENSP00000287097:R1227H	ENSP00000287097:R1227H	R	+	2	0	CD109	74577569	1.000000	0.71417	0.994000	0.49952	0.453000	0.32348	1.517000	0.35867	1.352000	0.45808	0.655000	0.94253	CGC		0.428	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		26	18	0	0	0	1	0	26	18				
ZNF833P	401898	broad.mit.edu	37	19	11762659	11762659	+	lincRNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11762659A>T	ENST00000344893.3	+	0	671					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						ACTGGACACAAACCGTATGAG	0.458																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5																																														0							g.chr19:11762659A>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11762659A>T								NR_028594.1						0	671	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.458	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		8	23	0	0	0	1	0	8	23				
SSUH2	51066	broad.mit.edu	37	3	8672545	8672545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8672545C>T	ENST00000317371.4	-	13	1630	c.405G>A	c.(403-405)ccG>ccA	p.P135P	SSUH2_ENST00000544814.1_Silent_p.P157P|SSUH2_ENST00000415132.1_Silent_p.P135P|SSUH2_ENST00000341795.3_Silent_p.P135P			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	135						cytoplasm (GO:0005737)											CCTGAAACATCGGAGGACCTT	0.527																																						ENST00000317371.4																			0											c.(403-405)ccG>ccA		ssu-2 homolog (C. elegans)							127.0	103.0	111.0					3																	8672545		2203	4300	6503	SO:0001819	synonymous_variant	51066							g.chr3:8672545C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.405G>A	3.37:g.8672545C>T						SSUH2_ENST00000544814.1_Silent_p.P157P|SSUH2_ENST00000415132.1_Silent_p.P135P|SSUH2_ENST00000341795.3_Silent_p.P135P	p.P135P							13	1630	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Silent	SNP	ENST00000317371.4	37	c.405G>A	CCDS2568.1																																																																																				0.527	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		19	25	0	0	0	1	0	19	25				
RAI2	10742	broad.mit.edu	37	X	17818948	17818948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818948G>T	ENST00000545871.1	-	3	1643	c.1183C>A	c.(1183-1185)Cca>Aca	p.P395T	RAI2_ENST00000360011.1_Missense_Mutation_p.P395T|RAI2_ENST00000331511.1_Missense_Mutation_p.P395T|RAI2_ENST00000451717.1_Missense_Mutation_p.P395T|RAI2_ENST00000415486.3_Missense_Mutation_p.P345T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	395					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATCATGGCTGGGGCCTCATGG	0.542																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1183-1185)Cca>Aca		retinoic acid induced 2							64.0	60.0	62.0					X																	17818948		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818948G>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1183C>A	X.37:g.17818948G>T	ENSP00000444210:p.Pro395Thr					RAI2_ENST00000331511.1_Missense_Mutation_p.P395T|RAI2_ENST00000360011.1_Missense_Mutation_p.P395T|RAI2_ENST00000451717.1_Missense_Mutation_p.P395T|RAI2_ENST00000415486.3_Missense_Mutation_p.P345T	p.P395T	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	1643	-	Hepatocellular(33;0.183)		395					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1183C>A	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.676994	0.00006	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.99	-0.65	0.11457	.	1.253660	0.06071	N	0.660118	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.008	T	0.24404	-1.0161	10	0.12430	T	0.62	-0.0057	1.6648	0.02799	0.2266:0.3648:0.2586:0.15	.	345;395	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	T	395;395;395;395;345	ENSP00000333456:P395T;ENSP00000353106:P395T;ENSP00000444210:P395T;ENSP00000401323:P395T;ENSP00000392578:P345T	ENSP00000333456:P395T	P	-	1	0	RAI2	17728869	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.694000	0.05115	-0.325000	0.08577	-0.347000	0.07816	CCA		0.542	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		6	79	1	0	0.000157383	1	0.00017284	6	79				
MYBPC1	4604	broad.mit.edu	37	12	102020663	102020663	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102020663C>A	ENST00000550270.1	+	4	103				MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000392934.3_Silent_p.V13V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000549145.1_Silent_p.V39V|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Silent_p.V39V|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.V39V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAGAGGAAGTCTCCCCGCCTA	0.398																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(115-117)gtC>gtA		myosin binding protein C, slow type							113.0	110.0	111.0					12																	102020663		2203	4300	6503	SO:0001627	intron_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102020663C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.104-2549C>A	12.37:g.102020663C>A						MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000361685.2_Silent_p.V39V|MYBPC1_ENST00000392934.3_Silent_p.V13V|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.V39V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000360610.2_Intron	p.V39V			Q00872	MYPC1_HUMAN			4	217	+			35					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.117C>A	CCDS9085.1																																																																																				0.398	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			25	52	1	0	4.72057e-08	1	5.61655e-08	25	52				
PER1	5187	broad.mit.edu	37	17	8051983	8051983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8051983G>A	ENST00000317276.4	-	8	1264	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	PER1_ENST00000354903.5_Missense_Mutation_p.R327C|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.R323C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	343					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAATGGATGCGCTCTGCAATC	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1027-1029)Cgc>Tgc	Other conserved DNA damage response genes	period circadian clock 1							80.0	80.0	80.0					17																	8051983		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8051983G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1027C>T	17.37:g.8051983G>A	ENSP00000314420:p.Arg343Cys					PER1_ENST00000581082.1_Missense_Mutation_p.R323C|PER1_ENST00000354903.5_Missense_Mutation_p.R327C	p.R343C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			8	1264	-			343					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.1027C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762746	0.69763	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.44482	2.29;0.92	4.83	3.8	0.43715	.	0.050554	0.64402	D	0.000001	T	0.59197	0.2176	M	0.66297	2.02	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	T	0.62440	-0.6854	10	0.87932	D	0	-17.6693	10.9879	0.47532	0.0:0.0:0.7155:0.2845	.	327;343	B4DI49;O15534	.;PER1_HUMAN	C	343;327	ENSP00000314420:R343C;ENSP00000346979:R327C	ENSP00000314420:R343C	R	-	1	0	PER1	7992708	0.336000	0.24757	0.998000	0.56505	0.923000	0.55619	1.198000	0.32223	2.412000	0.81896	0.563000	0.77884	CGC		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			6	78	0	0	0	1	0	6	78				
TTK	7272	broad.mit.edu	37	6	80717747	80717747	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80717747G>T	ENST00000369798.2	+	3	472	c.361G>T	c.(361-363)Gct>Tct	p.A121S	TTK_ENST00000230510.3_Splice_Site_p.A121S|TTK_ENST00000509894.1_Splice_Site_p.A121S	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	121					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAAAGCGTAAGTATT	0.333																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.e3+1		TTK protein kinase							43.0	45.0	44.0					6																	80717747		2202	4296	6498	SO:0001630	splice_region_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80717747G>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.362+1G>T	6.37:g.80717747G>T						TTK_ENST00000230510.3_Splice_Site_p.A121_splice|TTK_ENST00000369798.2_Splice_Site_p.A121_splice	p.A121_splice			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	3	1190	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	121					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Splice_Site	SNP	ENST00000369798.2	37	c.362_splice	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143191	0.94560	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.87	5.87	0.94306	Tetratricopeptide-like helical (1);	0.046452	0.85682	D	0.000000	D	0.92688	0.7676	L	0.59436	1.845	0.51767	D	0.999935	D;D	0.76494	0.997;0.999	D;D	0.68192	0.91;0.956	D	0.92330	0.5873	10	0.72032	D	0.01	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	121;121	P33981;A8K8U5	TTK_HUMAN;.	S	121	ENSP00000422936:A121S;ENSP00000230510:A121S;ENSP00000358813:A121S;ENSP00000424851:A121S;ENSP00000421636:A121S;ENSP00000427483:A121S	ENSP00000230510:A121S	A	+	1	0	TTK	80774466	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.500000	0.90498	2.941000	0.99782	0.655000	0.94253	GCT		0.333	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		Missense_Mutation	9	20	1	0	2.17888e-05	1	2.45068e-05	9	20				
WDR47	22911	broad.mit.edu	37	1	109554001	109554001	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109554001T>A	ENST00000369962.3	-	5	889	c.667A>T	c.(667-669)Agc>Tgc	p.S223C	WDR47_ENST00000400794.3_Missense_Mutation_p.S230C|WDR47_ENST00000361054.3_Missense_Mutation_p.S195C|WDR47_ENST00000369965.4_Missense_Mutation_p.S223C|WDR47_ENST00000357672.3_Missense_Mutation_p.S195C			O94967	WDR47_HUMAN	WD repeat domain 47	223					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGCACTTCGCTTTCTGTAATT	0.383																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(583-585)Agc>Tgc		WD repeat domain 47							186.0	192.0	190.0					1																	109554001		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109554001T>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.667A>T	1.37:g.109554001T>A	ENSP00000358979:p.Ser223Cys					WDR47_ENST00000400794.3_Missense_Mutation_p.S230C|WDR47_ENST00000369965.4_Missense_Mutation_p.S223C|WDR47_ENST00000369962.3_Missense_Mutation_p.S223C|WDR47_ENST00000361054.3_Missense_Mutation_p.S195C	p.S195C			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	958	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	223					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.583A>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010898	0.75046	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58210	0.35;0.39;0.35;0.35;0.35	5.34	5.34	0.76211	.	0.044027	0.85682	D	0.000000	T	0.56202	0.1969	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D	0.63880	0.99;0.993;0.993;0.99	P;P;P;P	0.58873	0.847;0.781;0.72;0.799	T	0.62315	-0.6880	10	0.72032	D	0.01	0.0136	15.3118	0.74039	0.0:0.0:0.0:1.0	.	195;230;223;223	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	C	230;223;195;223;195	ENSP00000383599:S230C;ENSP00000358979:S223C;ENSP00000354339:S195C;ENSP00000358982:S223C;ENSP00000350301:S195C	ENSP00000350301:S195C	S	-	1	0	WDR47	109355524	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.901000	0.56303	2.009000	0.58944	0.460000	0.39030	AGC		0.383	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		17	317	0	0	0	1	0	17	317				
BSN	8927	broad.mit.edu	37	3	49695448	49695448	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49695448C>A	ENST00000296452.4	+	5	8573	c.8459C>A	c.(8458-8460)gCt>gAt	p.A2820D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2820					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGAACAAAGCTCACGTGAGT	0.627																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8458-8460)gCt>gAt		bassoon presynaptic cytomatrix protein							84.0	88.0	86.0					3																	49695448		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49695448C>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8459C>A	3.37:g.49695448C>A	ENSP00000296452:p.Ala2820Asp						p.A2820D	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	8573	+			2820					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8459C>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377074	0.24857	.	.	ENSG00000164061	ENST00000296452	T	0.20738	2.05	5.68	4.81	0.61882	.	0.050706	0.85682	N	0.000000	T	0.35913	0.0948	L	0.37800	1.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.04825	-1.0924	10	0.25751	T	0.34	-4.3503	16.2538	0.82501	0.1339:0.8661:0.0:0.0	.	2820	Q9UPA5	BSN_HUMAN	D	2820	ENSP00000296452:A2820D	ENSP00000296452:A2820D	A	+	2	0	BSN	49670452	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	6.044000	0.71012	1.429000	0.47314	-0.219000	0.12488	GCT		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		30	41	1	0	7.01153e-11	1	8.6781e-11	30	41				
PIK3C3	5289	broad.mit.edu	37	18	39607487	39607487	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39607487G>T	ENST00000262039.4	+	14	1651	c.1565G>T	c.(1564-1566)aGa>aTa	p.R522I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R7I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R459I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	522					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AACGTAATGAGAAGATTCAGC	0.423										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(1564-1566)aGa>aTa		phosphatidylinositol 3-kinase, catalytic subunit type 3							121.0	99.0	106.0					18																	39607487		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39607487G>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1565G>T	18.37:g.39607487G>T	ENSP00000262039:p.Arg522Ile	TSP Lung(28;0.18)				PIK3C3_ENST00000593098.1_Missense_Mutation_p.R7I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R459I	p.R522I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			14	1651	+			522					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1565G>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333475	0.41297	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.62788	-0.0;-0.0	5.73	5.73	0.89815	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Armadillo-type fold (1);	0.178653	0.64402	D	0.000010	T	0.62208	0.2409	L	0.52759	1.655	0.80722	D	1	B;B	0.20368	0.021;0.044	B;B	0.32583	0.045;0.148	T	0.55405	-0.8146	9	.	.	.	.	18.1556	0.89689	0.0:0.0:1.0:0.0	.	459;522	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	I	522;459	ENSP00000262039:R522I;ENSP00000381845:R459I	.	R	+	2	0	PIK3C3	37861485	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.757000	0.85209	2.724000	0.93272	0.586000	0.80456	AGA		0.423	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		7	55	1	0	0.27861	1	0.279982	7	55				
HELZ	9931	broad.mit.edu	37	17	65103554	65103554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65103554A>G	ENST00000358691.5	-	31	5138	c.4972T>C	c.(4972-4974)Ttc>Ctc	p.F1658L	HELZ_ENST00000580168.1_Missense_Mutation_p.F1659L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1658						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTGAGTTGAATATCTGGGGT	0.478																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4972-4974)Ttc>Ctc		helicase with zinc finger							179.0	186.0	184.0					17																	65103554		2024	4167	6191	SO:0001583	missense	9931							g.chr17:65103554A>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4972T>C	17.37:g.65103554A>G	ENSP00000351524:p.Phe1658Leu					HELZ_ENST00000580168.1_Missense_Mutation_p.F1659L	p.F1658L	NM_014877.3	NP_055692.2					31	5138	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4972T>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.428069	0.25726	.	.	ENSG00000198265	ENST00000358691	D	0.83673	-1.75	5.31	3.11	0.35812	.	0.278331	0.36066	N	0.002807	T	0.69070	0.3070	N	0.19112	0.55	0.26736	N	0.97049	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56384	-0.7988	10	0.35671	T	0.21	-4.0325	9.337	0.38056	0.8551:0.0:0.1449:0.0	.	1659;1658	B7ZLW2;P42694	.;HELZ_HUMAN	L	1658	ENSP00000351524:F1658L	ENSP00000351524:F1658L	F	-	1	0	HELZ	62534016	0.987000	0.35691	0.477000	0.27303	0.787000	0.44495	2.598000	0.46223	0.352000	0.24053	0.472000	0.43445	TTC		0.478	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		5	69	0	0	0	1	0	5	69				
ABHD2	11057	broad.mit.edu	37	15	89719110	89719110	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719110C>T	ENST00000352732.5	+	6	1126	c.606C>T	c.(604-606)gtC>gtT	p.V202V	ABHD2_ENST00000355100.3_Silent_p.V202V|ABHD2_ENST00000565973.1_Silent_p.V202V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	202					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCCAGCTGGTCGTCGTGGGCT	0.537																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(604-606)gtC>gtT		abhydrolase domain containing 2							170.0	139.0	149.0					15																	89719110		2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89719110C>T	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.606C>T	15.37:g.89719110C>T						ABHD2_ENST00000355100.3_Silent_p.V202V|ABHD2_ENST00000565973.1_Silent_p.V202V	p.V202V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			6	1126	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		202					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.606C>T	CCDS10348.1																																																																																				0.537	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			33	35	0	0	0	1	0	33	35				
TTC23	64927	broad.mit.edu	37	15	99678325	99678325	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99678325T>C	ENST00000394132.2	-	14	2051	c.1234A>G	c.(1234-1236)Aag>Gag	p.K412E	TTC23_ENST00000262074.4_Missense_Mutation_p.K412E|TTC23_ENST00000558613.1_Missense_Mutation_p.K412E|RP11-6O2.3_ENST00000564527.1_RNA|TTC23_ENST00000394135.3_Missense_Mutation_p.K412E|TTC23_ENST00000558663.1_Missense_Mutation_p.K412E|TTC23_ENST00000394136.1_Missense_Mutation_p.K412E			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	412										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GAAGCAACCTTGGGGGCCCTG	0.652																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(1234-1236)Aag>Gag		tetratricopeptide repeat domain 23							40.0	45.0	43.0					15																	99678325		1967	4144	6111	SO:0001583	missense	64927						binding	g.chr15:99678325T>C		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1234A>G	15.37:g.99678325T>C	ENSP00000377690:p.Lys412Glu					TTC23_ENST00000558613.1_Missense_Mutation_p.K412E|TTC23_ENST00000394136.1_Missense_Mutation_p.K412E|TTC23_ENST00000558663.1_Missense_Mutation_p.K412E|TTC23_ENST00000394135.3_Missense_Mutation_p.K412E|TTC23_ENST00000262074.4_Missense_Mutation_p.K412E	p.K412E			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		14	2051	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		412					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.1234A>G	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	T	1.019	-0.685597	0.03328	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.94	3.97	0.46021	.	0.084385	0.45361	N	0.000364	T	0.02767	0.0083	N	0.00926	-1.1	0.32674	N	0.516359	B	0.02656	0.0	B	0.01281	0.0	T	0.31943	-0.9925	10	0.02654	T	1	-5.8934	9.4732	0.38856	0.0:0.8988:0.0:0.1012	.	412	Q5W5X9	TTC23_HUMAN	E	412	ENSP00000377690:K412E;ENSP00000377693:K412E;ENSP00000262074:K412E;ENSP00000377692:K412E	ENSP00000262074:K412E	K	-	1	0	TTC23	97495848	0.003000	0.15002	0.017000	0.16124	0.035000	0.12851	0.715000	0.25822	1.176000	0.42840	-0.313000	0.08912	AAG		0.652	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		15	23	0	0	0	1	0	15	23				
HTR2C	3358	broad.mit.edu	37	X	113961365	113961365	+	Missense_Mutation	SNP	C	C	T	rs201115463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:113961365C>T	ENST00000276198.1	+	3	748	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HTR2C_ENST00000371951.1_Missense_Mutation_p.A7V|HTR2C_ENST00000371950.3_Missense_Mutation_p.A7V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	7					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGAGGAATGCGGTGCATTCA	0.343													C|||	1	0.000264901	0.0	0.0	3775	,	,		13339	0.0		0.0	False		,,,				2504	0.001					ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(19-21)gCg>gTg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						87.0	77.0	81.0					X																	113961365		2202	4300	6502	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113961365C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.20C>T	X.37:g.113961365C>T	ENSP00000276198:p.Ala7Val					HTR2C_ENST00000371950.3_Missense_Mutation_p.A7V|HTR2C_ENST00000371951.1_Missense_Mutation_p.A7V	p.A7V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			3	748	+			7					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.20C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476600	0.26511	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.55760	0.5;0.5;0.57	3.74	-0.419	0.12340	.	0.468359	0.18584	N	0.136938	T	0.28267	0.0698	N	0.14661	0.345	0.19945	N	0.999947	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.12915	-1.0529	10	0.72032	D	0.01	.	3.5014	0.07674	0.0:0.409:0.1958:0.3952	.	7;7	B1AMW4;P28335	.;5HT2C_HUMAN	V	7	ENSP00000276198:A7V;ENSP00000361019:A7V;ENSP00000361018:A7V	ENSP00000276198:A7V	A	+	2	0	HTR2C	113867621	0.005000	0.15991	0.204000	0.23530	0.696000	0.40369	-0.665000	0.05286	-0.216000	0.10048	0.422000	0.28245	GCG		0.343	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		11	10	0	0	0	1	0	11	10				
CLDN22	53842	broad.mit.edu	37	4	184240733	184240733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184240733C>T	ENST00000323319.5	-	1	1194	c.639G>A	c.(637-639)acG>acA	p.T213T	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	213					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGTGTTTCTCGTCTCCAGTT	0.542																																						ENST00000323319.5																			0				cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						c.(637-639)acG>acA		claudin 22							356.0	309.0	323.0					4																	184240733		1568	3582	5150	SO:0001819	synonymous_variant	53842				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr4:184240733C>T	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.639G>A	4.37:g.184240733C>T						WWC2_ENST00000403733.3_3'UTR	p.T213T	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	1194	-		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)	213						Silent	SNP	ENST00000323319.5	37	c.639G>A	CCDS43286.1																																																																																				0.542	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			99	202	0	0	0	1	0	99	202				
CRYBA4	1413	broad.mit.edu	37	22	27021500	27021500	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:27021500G>T	ENST00000354760.3	+	4	249	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	72	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCTGGAACGAGGCGAATATCC	0.617																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(214-216)Ggc>Tgc		crystallin, beta A4							136.0	126.0	129.0					22																	27021500		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021500G>T		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.214G>T	22.37:g.27021500G>T	ENSP00000346805:p.Gly72Cys					CRYBA4_ENST00000466315.1_3'UTR	p.G72C	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			4	249	+			72			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.214G>T	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753143	0.49362	.	.	ENSG00000196431	ENST00000354760	D	0.94046	-3.34	4.43	4.43	0.53597	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98713	1.0705	10	0.87932	D	0	.	14.5934	0.68386	0.0:0.0:1.0:0.0	.	72	P53673	CRBA4_HUMAN	C	72	ENSP00000346805:G72C	ENSP00000346805:G72C	G	+	1	0	CRYBA4	25351500	1.000000	0.71417	0.995000	0.50966	0.009000	0.06853	8.324000	0.90005	2.304000	0.77564	0.561000	0.74099	GGC		0.617	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		12	173	1	0	5.50884e-06	1	6.28354e-06	12	173				
RNF32	140545	broad.mit.edu	37	7	156468554	156468554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156468554G>A	ENST00000405335.1	+	9	1258	c.849G>A	c.(847-849)gtG>gtA	p.V283V	RNF32_ENST00000392743.2_Silent_p.V283V|RNF32_ENST00000317955.5_Silent_p.V283V|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000432459.2_Silent_p.V283V|RNF32_ENST00000311822.8_Silent_p.V283V|RNF32_ENST00000343665.4_Silent_p.V259V			Q9H0A6	RNF32_HUMAN	ring finger protein 32	283						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAATCCAAGTGCAGGTAGGTT	0.527																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(847-849)gtG>gtA		ring finger protein 32							98.0	92.0	94.0					7																	156468554		2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156468554G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.849G>A	7.37:g.156468554G>A						RNF32_ENST00000317955.5_Silent_p.V283V|RNF32_ENST00000343665.4_Silent_p.V259V|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000432459.2_Silent_p.V283V|RNF32_ENST00000311822.8_Silent_p.V283V|RNF32_ENST00000392743.2_Silent_p.V283V	p.V283V			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1258	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	283					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.849G>A	CCDS5944.1																																																																																				0.527	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		18	52	0	0	0	1	0	18	52				
CHMP2B	25978	broad.mit.edu	37	3	87294956	87294956	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:87294956G>A	ENST00000263780.4	+	3	457	c.219G>A	c.(217-219)acG>acA	p.T73T	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Silent_p.T32T|CHMP2B_ENST00000494980.1_Silent_p.T73T	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	73					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.T73T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AACAGAAGACGAGAACTTTTG	0.363																																						ENST00000263780.4																			1	Substitution - coding silent(1)	p.T73T(1)	large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12						c.(217-219)acG>acA		charged multivesicular body protein 2B							83.0	88.0	87.0					3																	87294956		2203	4300	6503	SO:0001819	synonymous_variant	25978				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	g.chr3:87294956G>A	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.219G>A	3.37:g.87294956G>A						CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Silent_p.T32T|CHMP2B_ENST00000494980.1_Silent_p.T73T	p.T73T	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	457	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	73					B4DJG8|Q53HC7|Q9Y4U6	Silent	SNP	ENST00000263780.4	37	c.219G>A	CCDS2918.1																																																																																				0.363	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		22	38	0	0	0	1	0	22	38				
NCCRP1	342897	broad.mit.edu	37	19	39691388	39691388	+	Missense_Mutation	SNP	C	C	T	rs113786921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39691388C>T	ENST00000339852.4	+	6	842	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	274					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGTGCAGCTCCGGGAGTGACT	0.607																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(820-822)Cgg>Tgg		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							116.0	118.0	117.0					19																	39691388		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691388C>T	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.820C>T	19.37:g.39691388C>T	ENSP00000342137:p.Arg274Trp						p.R274W	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			6	842	+			274					Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.820C>T	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596588	0.46318	.	.	ENSG00000188505	ENST00000339852	T	0.39056	1.1	4.96	-5.52	0.02560	.	0.705122	0.13419	N	0.389309	T	0.33585	0.0868	L	0.44542	1.39	0.09310	N	0.999999	D	0.63880	0.993	B	0.44315	0.446	T	0.46233	-0.9206	10	0.87932	D	0	-13.9828	13.2721	0.60167	0.2512:0.668:0.0808:0.0	.	274	Q6ZVX7	NCRP1_HUMAN	W	274	ENSP00000342137:R274W	ENSP00000342137:R274W	R	+	1	2	NCCRP1	44383228	0.185000	0.23213	0.876000	0.34364	0.428000	0.31595	-0.454000	0.06770	-0.736000	0.04831	-0.494000	0.04653	CGG		0.607	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		79	116	0	0	0	1	0	79	116				
C1QB	713	broad.mit.edu	37	1	22986052	22986052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22986052C>T	ENST00000314933.6	+	2	235	c.103C>T	c.(103-105)Cca>Tca	p.P35S	C1QB_ENST00000509305.1_Missense_Mutation_p.P33S	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	35					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCGGGCCCCCAGCCATCCC	0.602																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(97-99)Cca>Tca		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						46.0	44.0	44.0					1																	22986052		2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986052C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.103C>T	1.37:g.22986052C>T	ENSP00000313967:p.Pro35Ser					C1QB_ENST00000314933.6_Missense_Mutation_p.P35S	p.P33S			P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	443	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	35					Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.97C>T	CCDS228.1	.	.	.	.	.	.	.	.	.	.	C	4.522	0.096898	0.08681	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	D;D;D;D	0.96992	-4.2;-3.73;-4.2;-3.73	4.44	1.34	0.21922	.	1.690210	0.03251	N	0.181934	D	0.93674	0.7979	L	0.28192	0.835	0.09310	N	1	B	0.31705	0.336	B	0.37833	0.259	D	0.83742	0.0204	10	0.15952	T	0.53	.	12.3876	0.55340	0.0:0.4956:0.5044:0.0	.	35	P02746	C1QB_HUMAN	S	33;33;33;35	ENSP00000426317:P33S;ENSP00000423689:P33S;ENSP00000404606:P33S;ENSP00000313967:P35S	ENSP00000313967:P35S	P	+	1	0	C1QB	22858639	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.036000	0.12185	0.070000	0.16634	-0.325000	0.08501	CCA		0.602	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		5	30	0	0	0	1	0	5	30				
CCDC85A	114800	broad.mit.edu	37	2	56419887	56419887	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56419887C>T	ENST00000407595.2	+	2	1054	c.552C>T	c.(550-552)cgC>cgT	p.R184R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	184										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGCAGCCGCTGCTCCATCG	0.622																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(550-552)cgC>cgT		coiled-coil domain containing 85A							22.0	30.0	27.0					2																	56419887		2117	4219	6336	SO:0001819	synonymous_variant	114800							g.chr2:56419887C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.552C>T	2.37:g.56419887C>T						RP11-482H16.1_ENST00000607540.1_RNA	p.R184R	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1054	+			184						Silent	SNP	ENST00000407595.2	37	c.552C>T	CCDS46290.1																																																																																				0.622	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			9	35	0	0	0	1	0	9	35				
MDC1	9656	broad.mit.edu	37	6	30671864	30671864	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671864T>G	ENST00000376406.3	-	10	5743	c.5096A>C	c.(5095-5097)gAa>gCa	p.E1699A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E1435A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1699	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGATTGGAATTCAGGGGTGGT	0.557								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5095-5097)gAa>gCa	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							85.0	92.0	90.0					6																	30671864		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671864T>G	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5096A>C	6.37:g.30671864T>G	ENSP00000365588:p.Glu1699Ala					MDC1_ENST00000376405.2_Missense_Mutation_p.E1435A|MDC1-AS1_ENST00000442150.1_RNA	p.E1699A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5743	-			1699			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5096A>C	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695394	0.68386	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.10860	2.83;2.83	4.81	4.81	0.61882	.	0.198543	0.25027	N	0.033701	T	0.18087	0.0434	M	0.72894	2.215	0.24200	N	0.995513	D;D	0.76494	0.999;0.992	D;P	0.71184	0.972;0.872	T	0.02901	-1.1096	10	0.59425	D	0.04	-9.0517	11.363	0.49655	0.0:0.0:0.0:1.0	.	1435;1699	Q14676-2;Q14676	.;MDC1_HUMAN	A	1699;1435;1412;1265	ENSP00000365588:E1699A;ENSP00000365587:E1435A	ENSP00000365587:E1435A	E	-	2	0	MDC1	30779843	0.962000	0.33011	0.794000	0.32065	0.097000	0.18754	1.439000	0.35013	2.127000	0.65507	0.449000	0.29647	GAA		0.557	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	79	0	0	0	1	0	6	79				
TENM2	57451	broad.mit.edu	37	5	167642134	167642134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167642134G>A	ENST00000518659.1	+	21	3974	c.3935G>A	c.(3934-3936)cGc>cAc	p.R1312H	TENM2_ENST00000520394.1_Missense_Mutation_p.R1073H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1311H|TENM2_ENST00000519204.1_Missense_Mutation_p.R1191H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1136H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1312					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGAATCTACCGCGTCAAGTCT	0.562																																						ENST00000519204.1																			0											c.(3571-3573)cGc>cAc		teneurin transmembrane protein 2							103.0	106.0	105.0					5																	167642134		1950	4144	6094	SO:0001583	missense	57451							g.chr5:167642134G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3935G>A	5.37:g.167642134G>A	ENSP00000429430:p.Arg1312His					TENM2_ENST00000520394.1_Missense_Mutation_p.R1073H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1136H|TENM2_ENST00000518659.1_Missense_Mutation_p.R1312H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1311H	p.R1191H							20	3690	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3572G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.642645	0.87859	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84	5.1	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.154150	0.48286	D	0.000196	D	0.93112	0.7807	M	0.86953	2.85	0.37261	D	0.906991	P;P;P	0.50443	0.935;0.893;0.809	P;P;B	0.51777	0.679;0.48;0.337	D	0.94691	0.7874	10	0.66056	D	0.02	.	9.0347	0.36280	0.1697:0.0:0.8303:0.0	.	1311;1312;1073	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	1312;1311;1191;1073;1136	ENSP00000429430:R1312H;ENSP00000438635:R1311H;ENSP00000428964:R1191H;ENSP00000427874:R1073H;ENSP00000384905:R1136H	ENSP00000384905:R1136H	R	+	2	0	ODZ2	167574712	0.984000	0.35163	0.952000	0.39060	0.944000	0.59088	3.515000	0.53429	2.368000	0.80403	0.655000	0.94253	CGC		0.562	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		34	51	0	0	0	1	0	34	51				
ARID3C	138715	broad.mit.edu	37	9	34623516	34623516	+	Silent	SNP	C	C	T	rs574056651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34623516C>T	ENST00000378909.2	-	4	863	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	257	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ACTGGGTCGCCGGAGGGGCGG	0.706																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(769-771)ccG>ccA		AT rich interactive domain 3C (BRIGHT-like)							24.0	30.0	28.0					9																	34623516		2168	4252	6420	SO:0001819	synonymous_variant	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623516C>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.771G>A	9.37:g.34623516C>T							p.P257P	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	863	-	all_epithelial(49;0.102)		257			Pro-rich.			Silent	SNP	ENST00000378909.2	37	c.771G>A	CCDS35006.1																																																																																				0.706	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		4	39	0	0	0	1	0	4	39				
TXK	7294	broad.mit.edu	37	4	48088512	48088512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48088512C>A	ENST00000264316.4	-	10	1012	c.927G>T	c.(925-927)gaG>gaT	p.E309D	TXK_ENST00000510457.1_5'Flank	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAATGAAATCCTCTTCAGACA	0.443																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(925-927)gaG>gaT		TXK tyrosine kinase							246.0	210.0	222.0					4																	48088512		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48088512C>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.927G>T	4.37:g.48088512C>A	ENSP00000264316:p.Glu309Asp						p.E309D	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			10	1012	-			309			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.927G>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	3.980	-0.006565	0.07773	.	.	ENSG00000074966	ENST00000264316	D	0.83591	-1.74	5.14	-1.34	0.09143	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.138494	0.47455	D	0.000233	T	0.58764	0.2145	N	0.16098	0.37	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.21348	-1.0248	10	0.21540	T	0.41	.	0.698	0.00902	0.2434:0.2102:0.311:0.2355	.	309	P42681	TXK_HUMAN	D	309	ENSP00000264316:E309D	ENSP00000264316:E309D	E	-	3	2	TXK	47783269	0.861000	0.29849	0.993000	0.49108	0.960000	0.62799	0.014000	0.13333	-0.100000	0.12241	0.650000	0.86243	GAG		0.443	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		10	136	1	0	2.27111e-07	1	2.66951e-07	10	136				
ELK1	2002	broad.mit.edu	37	X	47497220	47497220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497220G>A	ENST00000247161.3	-	4	1115	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.S285L|ELK1_ENST00000376983.3_Missense_Mutation_p.S339L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	339					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GCCACTTCCCGATCCTGGGGT	0.692																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(1015-1017)tCg>tTg		ELK1, member of ETS oncogene family							6.0	7.0	7.0					X																	47497220		2136	4163	6299	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47497220G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1016C>T	X.37:g.47497220G>A	ENSP00000247161:p.Ser339Leu					ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.S339L|ELK1_ENST00000592066.1_Missense_Mutation_p.S285L	p.S339L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			4	1115	-			339					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.1016C>T	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	g	18.30	3.593705	0.66219	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.25749	1.78;1.78	5.09	5.09	0.68999	.	0.107321	0.38381	N	0.001717	T	0.34454	0.0898	L	0.47190	1.495	0.80722	D	1	D	0.69078	0.997	P	0.53006	0.715	T	0.06427	-1.0827	10	0.66056	D	0.02	.	13.3062	0.60352	0.0:0.0:1.0:0.0	.	339	P19419	ELK1_HUMAN	L	339	ENSP00000247161:S339L;ENSP00000366182:S339L	ENSP00000247161:S339L	S	-	2	0	ELK1	47382164	0.993000	0.37304	0.982000	0.44146	0.334000	0.28698	2.777000	0.47717	2.447000	0.82792	0.597000	0.82753	TCG		0.692	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		4	4	0	0	0	1	0	4	4				
FSD2	123722	broad.mit.edu	37	15	83455764	83455764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83455764C>T	ENST00000334574.8	-	2	560	c.379G>A	c.(379-381)Gcg>Acg	p.A127T	FSD2_ENST00000541889.1_Missense_Mutation_p.A127T			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	127										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCGGCCTCCGCTGCCTCTCCA	0.587																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(379-381)Gcg>Acg		fibronectin type III and SPRY domain containing 2							50.0	56.0	54.0					15																	83455764		2054	4192	6246	SO:0001583	missense	123722							g.chr15:83455764C>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.379G>A	15.37:g.83455764C>T	ENSP00000335651:p.Ala127Thr					FSD2_ENST00000541889.1_Missense_Mutation_p.A127T	p.A127T			A1L4K1	FSD2_HUMAN			2	560	-			127					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.379G>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493348	0.26774	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.41400	1.0;1.0	4.9	3.01	0.34805	.	0.481763	0.19229	N	0.119479	T	0.35624	0.0938	L	0.56769	1.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.24621	-1.0155	10	0.20519	T	0.43	-9.017	9.5808	0.39486	0.0:0.8247:0.0:0.1753	.	127;127	B7ZM02;A1L4K1	.;FSD2_HUMAN	T	127	ENSP00000335651:A127T;ENSP00000444078:A127T	ENSP00000335651:A127T	A	-	1	0	FSD2	81252818	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	0.373000	0.20484	0.478000	0.27488	-0.137000	0.14449	GCG		0.587	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		4	60	0	0	0	1	0	4	60				
SLC50A1	55974	broad.mit.edu	37	1	155110754	155110754	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155110754C>A	ENST00000368404.4	+	6	725	c.663C>A	c.(661-663)acC>acA	p.T221T	SLC50A1_ENST00000303343.8_Silent_p.T167T|SLC50A1_ENST00000484157.1_Silent_p.T156T|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000368401.5_Silent_p.T166T	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	221	Mediates interaction with TRPV2. {ECO:0000250}.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCCTGCAAACCTGAGGCTGCT	0.547																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(661-663)acC>acA		solute carrier family 50 (sugar efflux transporter), member 1							57.0	56.0	57.0					1																	155110754		2203	4300	6503	SO:0001819	synonymous_variant	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110754C>A	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.663C>A	1.37:g.155110754C>A						SLC50A1_ENST00000484157.1_Silent_p.T156T|SLC50A1_ENST00000303343.8_Silent_p.T167T|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000368401.5_Silent_p.T166T	p.T221T	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			6	725	+			221			Mediates interaction with TRPV2 (By similarity).		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Silent	SNP	ENST00000368404.4	37	c.663C>A	CCDS1093.1																																																																																				0.547	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		7	12	1	0	1.12685e-05	1	1.27857e-05	7	12				
PIK3R5	23533	broad.mit.edu	37	17	8792129	8792129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8792129C>T	ENST00000447110.1	-	10	1099	c.975G>A	c.(973-975)gaG>gaA	p.E325E	PIK3R5_ENST00000581552.1_Silent_p.E325E|PIK3R5_ENST00000584803.1_Silent_p.E325E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	325				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						cctcctcctcctcttcctcct	0.582																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(973-975)gaG>gaA		phosphoinositide-3-kinase, regulatory subunit 5							78.0	78.0	78.0					17																	8792129		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792129C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.975G>A	17.37:g.8792129C>T						PIK3R5_ENST00000584803.1_Silent_p.E325E|PIK3R5_ENST00000581552.1_Silent_p.E325E	p.E325E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1099	-			325	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.975G>A	CCDS11147.1																																																																																				0.582	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	31	0	0	0	1	0	3	31				
TENM2	57451	broad.mit.edu	37	5	167675250	167675250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167675250C>T	ENST00000518659.1	+	27	7345	c.7306C>T	c.(7306-7308)Cga>Tga	p.R2436*	TENM2_ENST00000520394.1_Nonsense_Mutation_p.R2197*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.R2435*|TENM2_ENST00000519204.1_Nonsense_Mutation_p.R2315*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.R2260*	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2436					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCTGGCAGGACGATGGACCTC	0.537																																						ENST00000519204.1																			0											c.(6943-6945)Cga>Tga		teneurin transmembrane protein 2							75.0	76.0	75.0					5																	167675250		2020	4189	6209	SO:0001587	stop_gained	57451							g.chr5:167675250C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7306C>T	5.37:g.167675250C>T	ENSP00000429430:p.Arg2436*					TENM2_ENST00000520394.1_Nonsense_Mutation_p.R2197*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.R2260*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.R2436*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.R2435*	p.R2315*							26	7061	+								Q9ULU2	Nonsense_Mutation	SNP	ENST00000518659.1	37	c.6943C>T		.	.	.	.	.	.	.	.	.	.	C	47	13.225555	0.99728	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	.	.	.	4.58	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1702	0.65506	0.151:0.849:0.0:0.0	.	.	.	.	X	2436;2435;2315;2197;2260	.	ENSP00000384905:R2260X	R	+	1	2	ODZ2	167607828	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	4.534000	0.60622	1.250000	0.43966	0.556000	0.70494	CGA		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		13	35	0	0	0	1	0	13	35				
ZBTB14	7541	broad.mit.edu	37	18	5291149	5291149	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5291149C>A	ENST00000357006.4	-	4	1396	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R353I	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	353					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										ACTGTGAACTCTCTCATGCTT	0.438																																						ENST00000357006.4																			0											c.(1057-1059)aGa>aTa		zinc finger and BTB domain containing 14							171.0	160.0	164.0					18																	5291149		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291149C>A	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1058G>T	18.37:g.5291149C>A	ENSP00000349503:p.Arg353Ile					ZBTB14_ENST00000400143.3_Missense_Mutation_p.R353I	p.R353I	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1396	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1058G>T	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361114	0.82353	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.24908	1.83;1.83	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.49372	0.1553	L	0.53249	1.67	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	T	0.42413	-0.9453	10	0.87932	D	0	-22.7338	20.053	0.97634	0.0:1.0:0.0:0.0	.	353	O43829	ZF161_HUMAN	I	353	ENSP00000349503:R353I;ENSP00000383009:R353I	ENSP00000349503:R353I	R	-	2	0	ZFP161	5281149	0.943000	0.32029	0.067000	0.19924	0.985000	0.73830	7.760000	0.85248	2.733000	0.93635	0.650000	0.86243	AGA		0.438	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		6	102	1	0	2.7689e-08	1	3.31013e-08	6	102				
STK24	8428	broad.mit.edu	37	13	99127180	99127180	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99127180G>A	ENST00000376547.3	-	5	673	c.528C>T	c.(526-528)ggC>ggT	p.G176G	STK24_ENST00000539966.1_Silent_p.G145G|STK24_ENST00000397517.2_Silent_p.G164G	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGCCAGCCACGCCAAAGTCCG	0.597																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(490-492)ggC>ggT		serine/threonine kinase 24							55.0	56.0	55.0					13																	99127180		2203	4300	6503	SO:0001819	synonymous_variant	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127180G>A	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.528C>T	13.37:g.99127180G>A						STK24_ENST00000376547.3_Silent_p.G176G|STK24_ENST00000539966.1_Silent_p.G145G	p.G164G	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	568	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		176			Protein kinase.		O14840|Q5JV92	Silent	SNP	ENST00000376547.3	37	c.492C>T	CCDS9488.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326810	0.24080	.	.	ENSG00000102572	ENST00000444574	.	.	.	5.22	-4.48	0.03515	.	.	.	.	.	T	0.36026	0.0952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34477	-0.9827	4	.	.	.	.	0.928	0.01329	0.4226:0.1396:0.2282:0.2096	.	.	.	.	C	82	.	.	R	-	1	0	STK24	97925181	0.005000	0.15991	0.951000	0.38953	0.912000	0.54170	-1.504000	0.02275	-0.961000	0.03609	-0.366000	0.07423	CGT		0.597	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		14	15	0	0	0	1	0	14	15				
ABCC9	10060	broad.mit.edu	37	12	22005070	22005070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22005070C>T	ENST00000261201.4	-	22	2729	c.2730G>A	c.(2728-2730)tgG>tgA	p.W910*	ABCC9_ENST00000261200.4_Nonsense_Mutation_p.W910*|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.W874*|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	910	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAAGTGTTTTCCAGTGTTCAT	0.373																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2728-2730)tgG>tgA		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						143.0	122.0	129.0					12																	22005070		2203	4300	6503	SO:0001587	stop_gained	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005070C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2730G>A	12.37:g.22005070C>T	ENSP00000261201:p.Trp910*					ABCC9_ENST00000261201.4_Nonsense_Mutation_p.W910*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.W874*	p.W910*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			22	2729	-			910			ABC transporter 1.		O60707	Nonsense_Mutation	SNP	ENST00000261201.4	37	c.2730G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	40	8.325721	0.98762	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6233	15.9989	0.80275	0.0:1.0:0.0:0.0	.	.	.	.	X	910;537;910;874	.	ENSP00000261200:W910X	W	-	3	0	ABCC9	21896337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.284000	0.78650	2.496000	0.84212	0.650000	0.86243	TGG		0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		26	33	0	0	0	1	0	26	33				
CCDC90B	60492	broad.mit.edu	37	11	82991211	82991211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82991211C>T	ENST00000529689.1	-	2	627	c.193G>A	c.(193-195)Gca>Aca	p.A65T	CCDC90B_ENST00000455220.2_Missense_Mutation_p.A56T|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000529073.1_Missense_Mutation_p.A65T|CCDC90B_ENST00000525503.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	65						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGAACCAATGCATGGGTATCA	0.388																																						ENST00000529689.1																			0				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)Gca>Aca		coiled-coil domain containing 90B							137.0	129.0	132.0					11																	82991211		2203	4300	6503	SO:0001583	missense	60492					integral to membrane|mitochondrion		g.chr11:82991211C>T	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.193G>A	11.37:g.82991211C>T	ENSP00000434724:p.Ala65Thr					CCDC90B_ENST00000455220.2_Missense_Mutation_p.A56T|CCDC90B_ENST00000529073.1_Missense_Mutation_p.A65T|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529611.1_5'UTR	p.A65T			Q9GZT6	CC90B_HUMAN			2	627	-		Acute lymphoblastic leukemia(157;0.103)	65					A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	c.193G>A	CCDS8266.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518817	0.85495	.	.	ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000529073	T;T;T	0.51325	0.71;0.71;0.71	5.64	4.69	0.59074	.	0.140499	0.64402	D	0.000005	T	0.52092	0.1713	M	0.81239	2.535	0.45025	D	0.998048	B;B	0.25441	0.105;0.126	B;B	0.34652	0.062;0.187	T	0.49725	-0.8909	9	.	.	.	-8.6041	10.4811	0.44693	0.1345:0.7963:0.0:0.0691	.	56;65	Q9GZT6-2;Q9GZT6	.;CC90B_HUMAN	T	65;56;65	ENSP00000434724:A65T;ENSP00000390990:A56T;ENSP00000431523:A65T	.	A	-	1	0	CCDC90B	82668859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.999000	0.40806	2.937000	0.99478	0.650000	0.86243	GCA		0.388	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825		10	112	0	0	0	1	0	10	112				
IGF2BP2	10644	broad.mit.edu	37	3	185407364	185407364	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185407364A>G	ENST00000382199.2	-	6	551	c.456T>C	c.(454-456)atT>atC	p.I152I	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000421047.2_Silent_p.I95I|IGF2BP2_ENST00000346192.3_Silent_p.I152I|IGF2BP2_ENST00000457616.2_Silent_p.I158I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	152	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATGTAGGAAATCTTGAAGG	0.582																																						ENST00000382199.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(454-456)atT>atC		insulin-like growth factor 2 mRNA binding protein 2							61.0	64.0	63.0					3																	185407364		2203	4300	6503	SO:0001819	synonymous_variant	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185407364A>G	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.456T>C	3.37:g.185407364A>G						IGF2BP2_ENST00000457616.2_Silent_p.I158I|IGF2BP2_ENST00000346192.3_Silent_p.I152I|IGF2BP2_ENST00000421047.2_Silent_p.I95I	p.I152I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		6	551	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		152			RRM 2.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	c.456T>C	CCDS3273.2																																																																																				0.582	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		34	36	0	0	0	1	0	34	36				
ANKLE2	23141	broad.mit.edu	37	12	133327369	133327369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133327369C>T	ENST00000357997.5	-	3	796	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R174Q|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R236Q	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	236					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGCTTTAAATCGGGACCCTTT	0.373																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(520-522)cGa>cAa		ankyrin repeat and LEM domain containing 2							144.0	139.0	141.0					12																	133327369		1832	4079	5911	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327369C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.707G>A	12.37:g.133327369C>T	ENSP00000350686:p.Arg236Gln					ANKLE2_ENST00000337516.5_Missense_Mutation_p.R236Q|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R236Q	p.R174Q			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	7205	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	236					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.521G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	36	5.619848	0.96660	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T	0.63255	0.36;0.21;-0.03	5.72	5.72	0.89469	Ribonuclease H1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.83080	-0.0138	10	0.87932	D	0	-13.1067	19.8807	0.96899	0.0:1.0:0.0:0.0	.	236;236	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	Q	174;236;236;6	ENSP00000446268:R174Q;ENSP00000350686:R236Q;ENSP00000337651:R236Q	ENSP00000337651:R236Q	R	-	2	0	ANKLE2	131837442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.432000	0.80349	2.704000	0.92352	0.650000	0.86243	CGA		0.373	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			27	48	0	0	0	1	0	27	48				
MUC5B	727897	broad.mit.edu	37	11	1281235	1281235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1281235G>A	ENST00000529681.1	+	46	16901	c.16843G>A	c.(16843-16845)Gtg>Atg	p.V5615M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5618M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5615					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACTGCACCGTGTACCTCTG	0.577																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16852-16854)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							134.0	143.0	140.0					11																	1281235		2101	4241	6342	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1281235G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16843G>A	11.37:g.1281235G>A	ENSP00000436812:p.Val5615Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V5615M	p.V5618M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	46	16910	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5615					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16852G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	4.479	0.088771	0.08583	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.16073	2.37;2.56	5.19	0.97	0.19692	.	.	.	.	.	T	0.10680	0.0261	N	0.17312	0.475	0.09310	N	1	D;D	0.62365	0.991;0.991	B;B	0.44278	0.445;0.445	T	0.19418	-1.0306	9	0.87932	D	0	.	5.2648	0.15593	0.078:0.2846:0.5069:0.1305	.	5952;5618	A7Y9J9;E9PBJ0	.;.	M	5615;5618;5559;514;5327	ENSP00000436812:V5615M;ENSP00000415793:V5618M	ENSP00000343037:V5559M	V	+	1	0	MUC5B	1237811	0.000000	0.05858	0.002000	0.10522	0.069000	0.16628	-1.852000	0.01667	-0.070000	0.12908	0.561000	0.74099	GTG		0.577	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		35	60	0	0	0	1	0	35	60				
PPARGC1A	10891	broad.mit.edu	37	4	23803420	23803420	+	Silent	SNP	G	G	A	rs181250217	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23803420G>A	ENST00000264867.2	-	12	2345	c.2226C>T	c.(2224-2226)aaC>aaT	p.N742N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	742	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGTCAGTTTCGTTTGACCTGC	0.413													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20498	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(2224-2226)aaC>aaT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							106.0	95.0	99.0					4																	23803420		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803420G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2226C>T	4.37:g.23803420G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.N742N	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			12	2345	-		Breast(46;0.0503)	742			RRM.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.2226C>T	CCDS3429.1																																																																																				0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		7	45	0	0	0	1	0	7	45				
PHF14	9678	broad.mit.edu	37	7	11075411	11075411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11075411C>T	ENST00000403050.3	+	8	2052	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PHF14_ENST00000445996.2_Nonsense_Mutation_p.Q249*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	534					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACCAGAAGCACAGGTATGGGA	0.393																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1600-1602)Cag>Tag		PHD finger protein 14							179.0	175.0	176.0					7																	11075411		1873	4097	5970	SO:0001587	stop_gained	9678						zinc ion binding	g.chr7:11075411C>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1600C>T	7.37:g.11075411C>T	ENSP00000385795:p.Gln534*					PHF14_ENST00000445996.2_Nonsense_Mutation_p.Q249*	p.Q534*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	2052	+			534					A7MCZ3|B4DI82	Nonsense_Mutation	SNP	ENST00000403050.3	37	c.1600C>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	43	10.389464	0.99396	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	534;249	.	ENSP00000385795:Q534X	Q	+	1	0	PHF14	11041936	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.800000	0.85949	2.835000	0.97688	0.650000	0.86243	CAG		0.393	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		66	181	0	0	0	1	0	66	181				
GSTM5	2949	broad.mit.edu	37	1	110260004	110260004	+	Nonsense_Mutation	SNP	C	C	T	rs181150599	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110260004C>T	ENST00000256593.3	+	8	671	c.613C>T	c.(613-615)Cga>Tga	p.R205*	GSTM5_ENST00000369813.1_3'UTR|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Nonsense_Mutation_p.R224*	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	205	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAATTCCTCCGAGGTCTTTT	0.547													C|||	4	0.000798722	0.0	0.0	5008	,	,		17535	0.003		0.001	False		,,,				2504	0.0					ENST00000369812.5																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(670-672)Cga>Tga		glutathione S-transferase mu 5	Glutathione(DB00143)	C	stop/ARG	0,4406		0,0,2203	107.0	100.0	102.0		613	-3.8	0.0	1		102	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained	GSTM5	NM_000851.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		205/219	110260004	3,13003	2203	4300	6503	SO:0001587	stop_gained	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110260004C>T	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.613C>T	1.37:g.110260004C>T	ENSP00000256593:p.Arg205*					GSTM5_ENST00000256593.3_Nonsense_Mutation_p.R205*|GSTM5_ENST00000369813.1_3'UTR|GSTM5_ENST00000492718.1_3'UTR	p.R224*			P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	8	741	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	205					A8K0V8|Q6PD78	Nonsense_Mutation	SNP	ENST00000256593.3	37	c.670C>T	CCDS811.1	4	0.0018315018315018315	0	0.0	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	12.88	2.070997	0.36566	0.0	3.49E-4	ENSG00000134201	ENST00000256593;ENST00000369812	.	.	.	5.42	-3.8	0.04307	.	0.269330	0.27700	U	0.018214	.	.	.	.	.	.	0.36444	D	0.865653	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	2.4603	0.04539	0.4561:0.2822:0.1123:0.1494	.	.	.	.	X	205;224	.	ENSP00000256593:R205X	R	+	1	2	GSTM5	110061527	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.494000	0.06669	0.650000	0.86243	CGA		0.547	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		4	117	0	0	0	1	0	4	117				
PCDHA12	56137	broad.mit.edu	37	5	140257242	140257242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140257242G>A	ENST00000398631.2	+	1	2185	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	729					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACCGTGAGCCGGTG	0.647																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2185-2187)Gtg>Atg									28.0	28.0	28.0					5																	140257242		2203	4298	6501	SO:0001583	missense	0							g.chr5:140257242G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2185G>A	5.37:g.140257242G>A	ENSP00000381628:p.Val729Met					PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.V729M	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2185	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2185G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	2.239	-0.374290	0.05034	.	.	ENSG00000251664	ENST00000398631	T	0.11385	2.78	3.49	-0.615	0.11587	.	.	.	.	.	T	0.08358	0.0208	L	0.39898	1.24	0.09310	N	1	B;B	0.19817	0.039;0.006	B;B	0.14023	0.01;0.001	T	0.34428	-0.9829	9	0.35671	T	0.21	.	6.6393	0.22901	0.2451:0.2366:0.5184:0.0	.	729;729	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	M	729	ENSP00000381628:V729M	ENSP00000381628:V729M	V	+	1	0	PCDHA12	140237426	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.349000	0.20055	-0.413000	0.07507	-0.797000	0.03246	GTG		0.647	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		18	11	0	0	0	1	0	18	11				
TRMT6	51605	broad.mit.edu	37	20	5922666	5922666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5922666C>A	ENST00000203001.2	-	8	1173	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.R178M	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	348					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTCTTGTCTCCTCTGTTTTTC	0.423																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(1042-1044)aGg>aTg		tRNA methyltransferase 6 homolog (S. cerevisiae)							191.0	184.0	186.0					20																	5922666		2203	4300	6503	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5922666C>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1043G>T	20.37:g.5922666C>A	ENSP00000203001:p.Arg348Met					TRMT6_ENST00000453074.2_Missense_Mutation_p.R178M|TRMT6_ENST00000473131.1_5'UTR	p.R348M	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			8	1173	-			348					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.1043G>T	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853183	0.51270	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.25912	1.8;1.77	6.17	4.26	0.50523	.	0.265266	0.43110	D	0.000602	T	0.24890	0.0604	M	0.68317	2.08	0.42323	D	0.992261	P	0.42735	0.788	B	0.35470	0.203	T	0.04737	-1.0930	10	0.46703	T	0.11	-10.1217	10.833	0.46671	0.0:0.7966:0.0:0.2034	.	348	Q9UJA5	TRM6_HUMAN	M	348;178	ENSP00000203001:R348M;ENSP00000392070:R178M	ENSP00000203001:R348M	R	-	2	0	TRMT6	5870666	0.984000	0.35163	0.945000	0.38365	0.993000	0.82548	0.793000	0.26944	0.943000	0.37553	0.655000	0.94253	AGG		0.423	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			19	153	1	0	1.96292e-10	1	2.41709e-10	19	153				
ARGFX	503582	broad.mit.edu	37	3	121304887	121304887	+	Nonsense_Mutation	SNP	C	C	T	rs548796906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121304887C>T	ENST00000334384.3	+	4	398	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CAGGAACCGGCGATTCAAATT	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18794	0.0		0.0	False		,,,				2504	0.0					ENST00000334384.3																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(388-390)Cga>Tga		arginine-fifty homeobox							67.0	67.0	67.0					3																	121304887		2203	4300	6503	SO:0001587	stop_gained	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121304887C>T		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.388C>T	3.37:g.121304887C>T	ENSP00000335578:p.Arg130*						p.R130*	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	4	398	+			130						Nonsense_Mutation	SNP	ENST00000334384.3	37	c.388C>T	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027790	0.75390	.	.	ENSG00000186103	ENST00000334384	.	.	.	3.78	0.753	0.18404	.	0.442914	0.16525	N	0.210627	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.96	9.3181	0.37946	0.5702:0.4298:0.0:0.0	.	.	.	.	X	130	.	ENSP00000335578:R130X	R	+	1	2	ARGFX	122787577	0.001000	0.12720	0.002000	0.10522	0.845000	0.48019	-0.169000	0.09911	0.138000	0.18790	0.561000	0.74099	CGA		0.522	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		13	22	0	0	0	1	0	13	22				
SPATA33	124045	broad.mit.edu	37	16	89724737	89724737	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89724737G>T	ENST00000301031.4	+	2	116	c.116G>T	c.(115-117)aGg>aTg	p.R39M	CHMP1A_ENST00000397901.3_5'Flank|CHMP1A_ENST00000253475.5_5'Flank|CHMP1A_ENST00000550102.1_5'Flank|CHMP1A_ENST00000547614.1_5'Flank|SPATA33_ENST00000579310.1_Missense_Mutation_p.R40M|SPATA33_ENST00000568929.1_Missense_Mutation_p.R9M|CHMP1A_ENST00000535997.2_5'Flank	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	39						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAGGAAGCCAGGCAGGCAGAC	0.567																																						ENST00000301031.4																			0											c.(115-117)aGg>aTg		spermatogenesis associated 33							50.0	54.0	53.0					16																	89724737		2198	4300	6498	SO:0001583	missense	124045							g.chr16:89724737G>T	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.116G>T	16.37:g.89724737G>T	ENSP00000301031:p.Arg39Met					SPATA33_ENST00000568929.1_Missense_Mutation_p.R9M|SPATA33_ENST00000579310.1_Missense_Mutation_p.R40M	p.R39M	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1					2	116	+								A8WFL2|B4DZN8	Missense_Mutation	SNP	ENST00000301031.4	37	c.116G>T	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609453	0.46527	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.43294	0.95	2.89	-4.32	0.03688	.	.	.	.	.	T	0.37544	0.1007	N	0.19112	0.55	0.09310	N	1	D;D;D	0.71674	0.987;0.998;0.994	P;P;P	0.61940	0.753;0.896;0.85	T	0.34030	-0.9845	9	0.72032	D	0.01	.	5.1916	0.15212	0.3125:0.1652:0.5223:0.0	.	40;53;39	B4DZN8;Q86XC3;Q96N06	.;.;CP055_HUMAN	M	39;40	ENSP00000301031:R39M	ENSP00000301031:R39M	R	+	2	0	C16orf55	88252238	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.245000	0.08890	-1.060000	0.03189	-0.222000	0.12452	AGG		0.567	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		4	32	1	0	0.00909568	1	0.00947522	4	32				
CRKL	1399	broad.mit.edu	37	22	21288371	21288371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21288371G>A	ENST00000354336.3	+	2	1125	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	206					activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ACCTGCTCATGCATACGCTCA	0.502																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(616-618)Gca>Aca		v-crk avian sarcoma virus CT10 oncogene homolog-like							175.0	160.0	165.0					22																	21288371		2203	4300	6503	SO:0001583	missense	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21288371G>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.616G>A	22.37:g.21288371G>A	ENSP00000346300:p.Ala206Thr						p.A206T	NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		2	1125	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	206					A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	c.616G>A	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464991	0.63513	.	.	ENSG00000099942	ENST00000354336	T	0.30981	1.51	5.27	5.27	0.74061	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.26360	-1.0105	10	0.14252	T	0.57	.	16.7325	0.85439	0.0:0.0:1.0:0.0	.	206	P46109	CRKL_HUMAN	T	206	ENSP00000346300:A206T	ENSP00000346300:A206T	A	+	1	0	CRKL	19618371	1.000000	0.71417	0.995000	0.50966	0.892000	0.51952	5.017000	0.64047	2.618000	0.88619	0.655000	0.94253	GCA		0.502	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		40	50	0	0	0	1	0	40	50				
MYT1L	23040	broad.mit.edu	37	2	1914072	1914072	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1914072T>C	ENST00000399161.2	-	13	2504	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q584R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	586					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGCTTTTCCTGTGCCTTGGC	0.592																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1756-1758)cAg>cGg		myelin transcription factor 1-like							66.0	75.0	72.0					2																	1914072		2073	4210	6283	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1914072T>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1757A>G	2.37:g.1914072T>C	ENSP00000382114:p.Gln586Arg					MYT1L_ENST00000428368.2_Missense_Mutation_p.Q584R	p.Q586R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	13	2504	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	586					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1757A>G		.	.	.	.	.	.	.	.	.	.	T	19.70	3.877084	0.72180	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47528	0.84;0.84	5.55	5.55	0.83447	.	0.101609	0.64402	D	0.000002	T	0.44393	0.1291	L	0.46157	1.445	0.58432	D	0.999998	B;B	0.34103	0.384;0.437	B;B	0.34093	0.088;0.175	T	0.46233	-0.9206	10	0.62326	D	0.03	-30.1299	15.3622	0.74487	0.0:0.0:0.0:1.0	.	586;584	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	586;532;584	ENSP00000382114:Q586R;ENSP00000396103:Q584R	ENSP00000295067:Q532R	Q	-	2	0	MYT1L	1893079	1.000000	0.71417	0.956000	0.39512	0.807000	0.45602	7.725000	0.84808	2.101000	0.63845	0.533000	0.62120	CAG		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		7	23	0	0	0	1	0	7	23				
CA5A	763	broad.mit.edu	37	16	87969994	87969994	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87969994G>A	ENST00000309893.2	-	1	128	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	21					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCCAGAGAGGGGCCCACATCT	0.522																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(61-63)gcC>gcT		carbonic anhydrase VA, mitochondrial							134.0	130.0	131.0					16																	87969994		2198	4300	6498	SO:0001819	synonymous_variant	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87969994G>A	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.63C>T	16.37:g.87969994G>A						CA5A_ENST00000568801.1_5'UTR	p.A21A	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	1	128	-			21					B2RPF2	Silent	SNP	ENST00000309893.2	37	c.63C>T	CCDS10965.1																																																																																				0.522	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		27	57	0	0	0	1	0	27	57				
KIF3A	11127	broad.mit.edu	37	5	132034985	132034985	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132034985G>T	ENST00000378746.4	-	16	2147	c.1929C>A	c.(1927-1929)ccC>ccA	p.P643P	KIF3A_ENST00000487055.1_5'Flank|KIF3A_ENST00000378735.1_Silent_p.P646P|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Silent_p.P670P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	643					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCTCAAAGGGCTAAGTAA	0.403																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1927-1929)ccC>ccA		kinesin family member 3A							99.0	86.0	90.0					5																	132034985		2203	4300	6503	SO:0001819	synonymous_variant	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132034985G>T	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1929C>A	5.37:g.132034985G>T						KIF3A_ENST00000378735.1_Silent_p.P646P|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Silent_p.P670P	p.P643P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2147	-		all_cancers(142;0.0751)|Breast(839;0.198)	643					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Silent	SNP	ENST00000378746.4	37	c.1929C>A	CCDS34235.1																																																																																				0.403	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		7	71	1	0	2.0095e-06	1	2.31757e-06	7	71				
DECR2	26063	broad.mit.edu	37	16	455024	455024	+	Splice_Site	SNP	G	G	A	rs201409624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:455024G>A	ENST00000219481.5	+	2	287	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	DECR2_ENST00000397710.1_Splice_Site_p.R50Q|DECR2_ENST00000424398.2_Splice_Site_p.R50Q	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	50					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				ATTTTCATGCGGTGAGACTGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16123	0.001		0.0	False		,,,				2504	0.0					ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.e2+1		2,4-dienoyl CoA reductase 2, peroxisomal							173.0	159.0	164.0					16																	455024		2202	4300	6502	SO:0001630	splice_region_variant	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:455024G>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.149+1G>A	16.37:g.455024G>A						DECR2_ENST00000397710.1_Splice_Site_p.R50_splice|DECR2_ENST00000424398.2_Splice_Site_p.R50_splice	p.R50_splice	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			2	287	+		Hepatocellular(16;0.00015)	50					Q6ZRS7|Q96ET0	Splice_Site	SNP	ENST00000219481.5	37	c.149_splice	CCDS10409.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.9	4.469672	0.84533	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.40476	1.03;1.03	4.45	4.45	0.53987	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.46992	-0.9151	10	0.24483	T	0.36	.	15.692	0.77461	0.0:0.0:1.0:0.0	.	50	Q9NUI1	DECR2_HUMAN	Q	50	ENSP00000219481:R50Q;ENSP00000400374:R50Q	ENSP00000219481:R50Q	R	+	2	0	DECR2	395025	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	8.426000	0.90273	2.031000	0.59945	0.655000	0.94253	CGG		0.552	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	Missense_Mutation	36	75	0	0	0	1	0	36	75				
CLN5	1203	broad.mit.edu	37	13	77569213	77569213	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77569213T>C	ENST00000377453.3	+	2	1628	c.336T>C	c.(334-336)cgT>cgC	p.R112R	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	63					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGACTTCCGTCCAAAACCTG	0.363																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(334-336)cgT>cgC		ceroid-lipofuscinosis, neuronal 5							127.0	125.0	126.0					13																	77569213		2203	4300	6503	SO:0001819	synonymous_variant	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77569213T>C		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.336T>C	13.37:g.77569213T>C						CLN5_ENST00000485938.1_3'UTR	p.R112R	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	2	1628	+		Acute lymphoblastic leukemia(28;0.205)	63					B3KQK7	Silent	SNP	ENST00000377453.3	37	c.336T>C	CCDS9456.1																																																																																				0.363	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		12	85	0	0	0	1	0	12	85				
MLLT6	4302	broad.mit.edu	37	17	36873734	36873734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36873734G>A	ENST00000325718.7	+	11	1792	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	567					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCGGGATGCTGCGGGCTGTCT	0.662			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1699-1701)ctG>ctA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							54.0	58.0	57.0					17																	36873734		2203	4300	6503	SO:0001819	synonymous_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36873734G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1701G>A	17.37:g.36873734G>A						CTB-58E17.9_ENST00000579499.1_RNA	p.L567L	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			11	1792	+	Breast(7;4.43e-21)		567					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Silent	SNP	ENST00000325718.7	37	c.1701G>A	CCDS11327.1																																																																																				0.662	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		23	37	0	0	0	1	0	23	37				
SMEK1	55671	broad.mit.edu	37	14	91948197	91948197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91948197G>A	ENST00000554943.1	-	4	753	c.638C>T	c.(637-639)tCt>tTt	p.S213F	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.S213F|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554684.1_Missense_Mutation_p.S213F			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	213					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACATTCTTCAGAGAACATAAC	0.348																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(637-639)tCt>tTt		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							110.0	106.0	107.0					14																	91948197		2202	4300	6502	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91948197G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.638C>T	14.37:g.91948197G>A	ENSP00000450883:p.Ser213Phe					SMEK1_ENST00000337238.4_Missense_Mutation_p.S213F|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Missense_Mutation_p.S213F	p.S213F			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	4	1134	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	213					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.638C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.064097	0.93898	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000417249	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	6.03	6.03	0.97812	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.91300	3.195	0.80722	D	1	P;D;P	0.59357	0.919;0.985;0.948	P;D;P	0.67103	0.507;0.949;0.857	T	0.77955	-0.2393	10	0.87932	D	0	-15.0099	20.5568	0.99304	0.0:0.0:1.0:0.0	.	213;213;213	G3V5Z3;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	F	213;213;213;213;3	ENSP00000450864:S213F;ENSP00000337125:S213F;ENSP00000450883:S213F;ENSP00000452596:S213F	ENSP00000337125:S213F	S	-	2	0	SMEK1	91017950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	TCT		0.348	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		26	48	0	0	0	1	0	26	48				
ACOX2	8309	broad.mit.edu	37	3	58520108	58520108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58520108C>T	ENST00000302819.5	-	3	593	c.302G>A	c.(301-303)cGt>cAt	p.R101H	ACOX2_ENST00000459701.2_Missense_Mutation_p.R101H	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	101					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCCTAATTCACGACCATCTTC	0.537																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(301-303)cGt>cAt		acyl-CoA oxidase 2, branched chain							113.0	108.0	109.0					3																	58520108		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520108C>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.302G>A	3.37:g.58520108C>T	ENSP00000307697:p.Arg101His					ACOX2_ENST00000459701.2_Missense_Mutation_p.R101H	p.R101H	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	3	593	-			101					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.302G>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200596	0.38905	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.42131	0.98;0.98;0.98	5.12	-8.27	0.01017	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	3.081050	0.00777	N	0.001255	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.19712	-1.0297	10	0.44086	T	0.13	-15.2505	10.2824	0.43548	0.238:0.0928:0.6022:0.0671	.	101	Q99424	ACOX2_HUMAN	H	101	ENSP00000418562:R101H;ENSP00000307697:R101H;ENSP00000419927:R101H	ENSP00000307697:R101H	R	-	2	0	ACOX2	58495148	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.075000	0.03423	-1.572000	0.01661	-0.463000	0.05309	CGT		0.537	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			4	86	0	0	0	1	0	4	86				
TANC1	85461	broad.mit.edu	37	2	160035532	160035532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160035532G>T	ENST00000263635.6	+	14	2605	c.2368G>T	c.(2368-2370)Gac>Tac	p.D790Y	TANC1_ENST00000454300.1_Missense_Mutation_p.D684Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	790					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGATGGGAAGACTTTCAGCA	0.562																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2368-2370)Gac>Tac		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							134.0	140.0	138.0					2																	160035532		2005	4178	6183	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035532G>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2368G>T	2.37:g.160035532G>T	ENSP00000263635:p.Asp790Tyr					TANC1_ENST00000454300.1_Missense_Mutation_p.D684Y	p.D790Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			14	2605	+			790					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2368G>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411302	0.83340	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.78924	-1.17;-1.22	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.80746	2.51	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	P;D;D	0.66847	0.879;0.944;0.947	D	0.89521	0.3778	10	0.87932	D	0	.	19.8338	0.96646	0.0:0.0:1.0:0.0	.	782;684;790	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	Y	684;790	ENSP00000396339:D684Y;ENSP00000263635:D790Y	ENSP00000263635:D790Y	D	+	1	0	TANC1	159743778	1.000000	0.71417	0.938000	0.37757	0.919000	0.55068	9.869000	0.99810	2.706000	0.92434	0.557000	0.71058	GAC		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			9	147	1	0	2.17888e-05	1	2.45068e-05	9	147				
ASNS	440	broad.mit.edu	37	7	97498288	97498288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97498288G>A	ENST00000394309.3	-	3	652	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ASNS_ENST00000175506.4_Missense_Mutation_p.P61S|ASNS_ENST00000422745.1_Missense_Mutation_p.P40S|ASNS_ENST00000444334.1_Missense_Mutation_p.P40S|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.P61S	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	61	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTCGAATTGGCTGCATTCCA	0.453																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(181-183)Cca>Tca		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						93.0	82.0	86.0					7																	97498288		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97498288G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.181C>T	7.37:g.97498288G>A	ENSP00000377846:p.Pro61Ser					ASNS_ENST00000422745.1_Missense_Mutation_p.P40S|ASNS_ENST00000394309.3_Missense_Mutation_p.P61S|ASNS_ENST00000444334.1_Missense_Mutation_p.P40S|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.P61S|ASNS_ENST00000455086.1_Intron	p.P61S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			4	709	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		61			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.181C>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385905	0.82902	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.12;-1.12;-0.78	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.055974	0.64402	D	0.000001	D	0.93158	0.7821	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95454	0.8537	10	0.87932	D	0	-4.1039	13.4946	0.61416	0.0:0.0:1.0:0.0	.	61	P08243	ASNS_HUMAN	S	61;61;61;40;40;61;61;61;40	ENSP00000175506:P61S;ENSP00000377846:P61S;ENSP00000377845:P61S;ENSP00000414901:P40S;ENSP00000406994:P40S;ENSP00000400422:P61S	ENSP00000175506:P61S	P	-	1	0	ASNS	97336224	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.884000	0.92432	2.120000	0.65058	0.555000	0.69702	CCA		0.453	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		28	83	0	0	0	1	0	28	83				
TMIGD1	388364	broad.mit.edu	37	17	28656417	28656417	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28656417C>A	ENST00000328886.4	-	3	285	c.213G>T	c.(211-213)gaG>gaT	p.E71D	TMIGD1_ENST00000538566.2_Missense_Mutation_p.E71D	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	71	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CCACTCTCCCCTCCTCTCGGT	0.463																																						ENST00000328886.4																			0				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						c.(211-213)gaG>gaT		transmembrane and immunoglobulin domain containing 1							130.0	116.0	121.0					17																	28656417		2203	4300	6503	SO:0001583	missense	388364					integral to membrane		g.chr17:28656417C>A	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.213G>T	17.37:g.28656417C>A	ENSP00000332404:p.Glu71Asp					TMIGD1_ENST00000538566.2_Missense_Mutation_p.E71D	p.E71D	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN			3	285	-			71			Ig-like C2-type 1.		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	c.213G>T	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760191	0.15846	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.14391	2.51;2.51	5.52	-9.77	0.00500	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.047370	0.07384	N	0.887868	T	0.02970	0.0088	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.33727	-0.9857	10	0.02654	T	1	1.066	3.6531	0.08210	0.5442:0.1164:0.0718:0.2675	.	71;71	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	D	71	ENSP00000332404:E71D;ENSP00000446118:E71D	ENSP00000332404:E71D	E	-	3	2	TMIGD1	25680543	0.000000	0.05858	0.000000	0.03702	0.963000	0.63663	-2.907000	0.00700	-1.420000	0.02009	-0.233000	0.12211	GAG		0.463	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		15	58	1	0	3.45872e-05	1	3.88335e-05	15	58				
PTPRJ	5795	broad.mit.edu	37	11	48166412	48166412	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48166412A>C	ENST00000418331.2	+	13	3113	c.2761A>C	c.(2761-2763)Aag>Cag	p.K921Q		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	921				YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035). {ECO:0000305}.	contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTACAATGGGAAGCTGGAACC	0.458																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2761-2763)Aag>Cag		protein tyrosine phosphatase, receptor type, J							198.0	205.0	202.0					11																	48166412		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48166412A>C	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2761A>C	11.37:g.48166412A>C	ENSP00000400010:p.Lys921Gln						p.K921Q	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			13	3113	+			921	YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035).				Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.2761A>C	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794550	0.70452	.	.	ENSG00000149177	ENST00000418331	T	0.14266	2.52	5.4	4.28	0.50868	Fibronectin, type III (1);	.	.	.	.	T	0.15176	0.0366	L	0.34521	1.04	0.80722	D	1	D	0.57899	0.981	P	0.53360	0.724	T	0.10086	-1.0645	9	0.22109	T	0.4	.	7.7409	0.28841	0.9059:0.0:0.0941:0.0	.	921	Q12913	PTPRJ_HUMAN	Q	921	ENSP00000400010:K921Q	ENSP00000400010:K921Q	K	+	1	0	PTPRJ	48122988	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.502000	0.45398	0.899000	0.36444	0.528000	0.53228	AAG		0.458	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			6	132	0	0	0	1	0	6	132				
PRDM15	63977	broad.mit.edu	37	21	43242388	43242388	+	Silent	SNP	G	G	A	rs139162933	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43242388G>A	ENST00000269844.3	-	22	2975	c.2865C>T	c.(2863-2865)atC>atT	p.I955I	PRDM15_ENST00000422911.1_Silent_p.I646I|PRDM15_ENST00000538201.1_Silent_p.I609I|PRDM15_ENST00000398548.1_Silent_p.I626I|PRDM15_ENST00000447207.2_Silent_p.I589I	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATCAACGCGATGTCCTGGA	0.527													g|||	7	0.00139776	0.0053	0.0	5008	,	,		19867	0.0		0.0	False		,,,				2504	0.0					ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(1936-1938)atC>atT		PR domain containing 15			,	34,4372	39.2+/-71.8	2,30,2171	115.0	103.0	107.0		1878,2865	-1.5	1.0	21	dbSNP_134	107	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PRDM15	NM_001040424.1,NM_022115.3	,	2,32,6469	AA,AG,GG		0.0233,0.7717,0.2768	,	626/1179,955/1508	43242388	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43242388G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2865C>T	21.37:g.43242388G>A						PRDM15_ENST00000447207.2_Silent_p.I589I|PRDM15_ENST00000538201.1_Silent_p.I609I|PRDM15_ENST00000269844.3_Silent_p.I955I|PRDM15_ENST00000398548.1_Silent_p.I626I	p.I646I			P57071	PRD15_HUMAN			16	2039	-			955					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.1938C>T	CCDS13676.1																																																																																				0.527	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		23	55	0	0	0	1	0	23	55				
POR	5447	broad.mit.edu	37	7	75608864	75608864	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75608864A>G	ENST00000461988.1	+	4	438	c.333A>G	c.(331-333)cgA>cgG	p.R111R	POR_ENST00000419840.1_5'UTR|POR_ENST00000475509.1_3'UTR|POR_ENST00000439269.1_5'Flank|POR_ENST00000394893.1_Silent_p.R111R|POR_ENST00000450476.1_5'Flank|POR_ENST00000545601.1_5'Flank	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	108	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	ACGGGATGCGAGGCATGTCAG	0.627																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(331-333)cgA>cgG		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						56.0	65.0	62.0					7																	75608864		2158	4263	6421	SO:0001819	synonymous_variant	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75608864A>G	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.333A>G	7.37:g.75608864A>G						POR_ENST00000461988.1_Silent_p.R111R|POR_ENST00000475509.1_3'UTR|POR_ENST00000419840.1_5'UTR	p.R111R			P16435	NCPR_HUMAN			4	353	+			108			Flavodoxin-like.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	37	c.333A>G	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	A	9.961	1.222770	0.22457	.	.	ENSG00000127948	ENST00000447222	T	0.73152	-0.72	4.06	1.43	0.22495	.	0.124416	0.53938	N	0.000054	T	0.60637	0.2284	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49103	-0.8974	7	0.25106	T	0.35	-9.2983	3.7672	0.08627	0.2808:0.0:0.4497:0.2694	.	.	.	.	G	84	ENSP00000393527:R84G	ENSP00000393527:R84G	R	+	1	2	POR	75446800	0.997000	0.39634	1.000000	0.80357	0.792000	0.44763	0.418000	0.21230	0.462000	0.27095	-0.242000	0.12053	AGG		0.627	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		3	68	0	0	0	1	0	3	68				
PXDN	7837	broad.mit.edu	37	2	1642691	1642691	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1642691T>G	ENST00000252804.4	-	21	4183	c.4133A>C	c.(4132-4134)gAt>gCt	p.D1378A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1378					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCAGATGCATCTGAGCGTGT	0.537																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(4132-4134)gAt>gCt		peroxidasin homolog (Drosophila)							132.0	138.0	136.0					2																	1642691		2132	4243	6375	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1642691T>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4133A>C	2.37:g.1642691T>G	ENSP00000252804:p.Asp1378Ala						p.D1378A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	21	4183	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1378					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.4133A>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	6.828	0.521877	0.13005	.	.	ENSG00000130508	ENST00000252804	T	0.60299	0.2	5.43	1.72	0.24424	.	1.021630	0.07770	N	0.951492	T	0.38108	0.1028	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24190	-1.0167	10	0.36615	T	0.2	0.004	6.2847	0.21027	0.0:0.119:0.1394:0.7416	.	1378	Q92626	PXDN_HUMAN	A	1378	ENSP00000252804:D1378A	ENSP00000252804:D1378A	D	-	2	0	PXDN	1621698	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	1.792000	0.38754	0.116000	0.18110	0.460000	0.39030	GAT		0.537	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		23	34	0	0	0	1	0	23	34				
PPP1R9A	55607	broad.mit.edu	37	7	94917922	94917922	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94917922G>T	ENST00000433881.1	+	15	3508	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q992H|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.Q1190H|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q1268H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	992	Interacts with TGN38. {ECO:0000250}.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTGCAGCAGGTTTCTCACT	0.453										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(3568-3570)caG>caT		protein phosphatase 1, regulatory subunit 9A							189.0	156.0	167.0					7																	94917922		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94917922G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2976G>T	7.37:g.94917922G>T	ENSP00000398870:p.Gln992His	HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.Q992H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q1268H|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q992H	p.Q1190H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	3786	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		992					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.3570G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794718	0.50102	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000433881;ENST00000289495	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	5.61	5.61	0.85477	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.071614	0.56097	D	0.000028	D	0.92156	0.7513	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.998;0.98;0.998;0.998	D	0.91879	0.5514	10	0.51188	T	0.08	.	13.2525	0.60060	0.0724:0.0:0.9276:0.0	.	984;1190;1268;1208;992	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	1268;992;992;1190	ENSP00000405514:Q1268H;ENSP00000344524:Q992H;ENSP00000398870:Q992H;ENSP00000289495:Q1190H	ENSP00000289495:Q1190H	Q	+	3	2	PPP1R9A	94755858	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	2.730000	0.47335	2.826000	0.97356	0.655000	0.94253	CAG		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		21	93	1	0	1.55795e-14	1	1.98882e-14	21	93				
ZNF750	79755	broad.mit.edu	37	17	80788577	80788577	+	Missense_Mutation	SNP	G	G	A	rs142714888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788577G>A	ENST00000269394.3	-	3	2446	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	ZNF750_ENST00000572562.1_Missense_Mutation_p.A139V|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	538					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCGGTTTCCGCCTGGGGGCT	0.627																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1612-1614)gCg>gTg		zinc finger protein 750		G	,VAL/ALA	0,4406		0,0,2203	44.0	49.0	47.0		,1613	-6.9	0.0	17	dbSNP_134	47	1,8589	1.2+/-3.3	0,1,4294	no	intron,missense	TBCD,ZNF750	NM_005993.4,NM_024702.2	,64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,benign	,538/724	80788577	1,12995	2203	4295	6498	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80788577G>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1613C>T	17.37:g.80788577G>A	ENSP00000269394:p.Ala538Val					TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A139V	p.A538V	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2446	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	538					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.1613C>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	5.967	0.362452	0.11296	0.0	1.16E-4	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.13778	2.56	3.43	-6.86	0.01676	.	1.961470	0.02805	N	0.123627	T	0.08268	0.0206	L	0.36672	1.1	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.24835	-1.0149	9	.	.	.	0.0575	0.9931	0.01461	0.3958:0.1137:0.2626:0.2279	.	538	Q32MQ0	ZN750_HUMAN	V	538;131	ENSP00000269394:A538V	.	A	-	2	0	ZNF750	78381866	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.543000	0.06084	-1.445000	0.01948	-0.895000	0.02911	GCG		0.627	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		7	66	0	0	0	1	0	7	66				
INO80	54617	broad.mit.edu	37	15	41371941	41371941	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41371941C>A	ENST00000361937.3	-	9	1513	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	INO80_ENST00000401393.3_Missense_Mutation_p.K363N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	363	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAAAGCTTCCTTCTCTGCTC	0.478																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1087-1089)aaG>aaT		INO80 complex subunit							250.0	260.0	256.0					15																	41371941		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41371941C>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1089G>T	15.37:g.41371941C>A	ENSP00000355205:p.Lys363Asn					INO80_ENST00000401393.3_Missense_Mutation_p.K363N	p.K363N			Q9ULG1	INO80_HUMAN			9	1513	-			363			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1089G>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653908	0.67472	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.94723	-3.5;-3.5	4.91	-1.08	0.09936	DNA binding domain, INO80 (1);	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	M	0.88241	2.94	0.50632	D	0.999887	D	0.62365	0.991	D	0.76071	0.987	D	0.95307	0.8408	10	0.72032	D	0.01	.	10.0694	0.42324	0.0:0.4724:0.0:0.5276	.	363	Q9ULG1	INO80_HUMAN	N	363	ENSP00000355205:K363N;ENSP00000384686:K363N	ENSP00000355205:K363N	K	-	3	2	INO80	39159233	0.995000	0.38212	0.997000	0.53966	0.872000	0.50106	0.389000	0.20751	-0.094000	0.12374	0.467000	0.42956	AAG		0.478	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		9	326	1	0	2.80697e-09	1	3.39963e-09	9	326				
FANCD2	2177	broad.mit.edu	37	3	10122797	10122797	+	Missense_Mutation	SNP	G	G	A	rs587778331		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10122797G>A	ENST00000419585.1	+	31	3151	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	FANCD2OS_ENST00000436517.1_5'Flank|FANCD2_ENST00000287647.3_Missense_Mutation_p.R997Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000383806.1_Missense_Mutation_p.R997Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	997					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGGAAGCCGGAATATTGGA	0.418			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2989-2991)cGg>cAg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							104.0	111.0	108.0					3																	10122797		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10122797G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2990G>A	3.37:g.10122797G>A	ENSP00000398754:p.Arg997Gln					FANCD2_ENST00000419585.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000383806.1_Missense_Mutation_p.R997Q	p.R997Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	31	3083	+			997					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2990G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731965	0.48939	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.79	2.82	0.32997	.	0.319059	0.36268	N	0.002684	T	0.41534	0.1163	M	0.72118	2.19	0.20403	N	0.99991	B;B	0.30068	0.267;0.267	B;B	0.22753	0.041;0.016	T	0.28964	-1.0027	10	0.35671	T	0.21	.	8.7603	0.34669	0.2683:0.0:0.7317:0.0	.	997;997	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	Q	997	ENSP00000287647:R997Q;ENSP00000373318:R997Q;ENSP00000373317:R997Q;ENSP00000398754:R997Q	ENSP00000287647:R997Q	R	+	2	0	FANCD2	10097797	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.155000	0.50700	0.680000	0.31366	0.650000	0.86243	CGG		0.418	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			41	54	0	0	0	1	0	41	54				
RETSAT	54884	broad.mit.edu	37	2	85570391	85570391	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85570391T>C	ENST00000295802.4	-	11	1919	c.1807A>G	c.(1807-1809)Atc>Gtc	p.I603V	RETSAT_ENST00000457495.2_Missense_Mutation_p.I542V|RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	603					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGTGCCCGGATCCTAGAATCA	0.522																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1807-1809)Atc>Gtc		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						104.0	108.0	107.0					2																	85570391		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85570391T>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1807A>G	2.37:g.85570391T>C	ENSP00000295802:p.Ile603Val					RETSAT_ENST00000457495.2_Missense_Mutation_p.I542V|RETSAT_ENST00000263854.6_3'UTR	p.I603V	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			11	1919	-			603					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1807A>G	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	T	1.608	-0.524887	0.04141	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.21031	2.03;2.04	4.79	-4.43	0.03568	.	0.649324	0.15218	N	0.274073	T	0.12178	0.0296	N	0.25890	0.77	0.24160	N	0.995664	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.003	T	0.25293	-1.0136	10	0.21014	T	0.42	-5.7609	13.479	0.61324	0.0:0.6331:0.0:0.3669	.	542;542;603	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	V	603;542	ENSP00000295802:I603V;ENSP00000405040:I542V	ENSP00000295802:I603V	I	-	1	0	RETSAT	85423902	0.000000	0.05858	0.004000	0.12327	0.081000	0.17604	-0.823000	0.04443	-0.893000	0.03930	0.459000	0.35465	ATC		0.522	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		5	46	0	0	0	1	0	5	46				
COL4A5	1287	broad.mit.edu	37	X	107925050	107925050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107925050C>T	ENST00000361603.2	+	45	4374	c.4130C>T	c.(4129-4131)cCt>cTt	p.P1377L	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1383L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1377	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GATGCTGGTCCTCCAGGAATC	0.463									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4147-4149)cCt>cTt		collagen, type IV, alpha 5							98.0	84.0	89.0					X																	107925050		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107925050C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4130C>T	X.37:g.107925050C>T	ENSP00000354505:p.Pro1377Leu					COL4A5_ENST00000361603.2_Missense_Mutation_p.P1377L	p.P1383L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			47	4392	+			1377			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4148C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	9.213	1.031377	0.19590	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96685	-4.09;-4.09	5.0	5.0	0.66597	.	0.061500	0.64402	D	0.000003	D	0.92622	0.7656	L	0.33668	1.02	0.58432	D	0.999998	B;B	0.12013	0.005;0.002	B;B	0.17433	0.018;0.005	D	0.89525	0.3781	10	0.48119	T	0.1	.	11.3009	0.49304	0.0:0.9135:0.0:0.0865	.	1380;1377	E7EVY4;P29400	.;CO4A5_HUMAN	L	1383;1377;1383	ENSP00000331902:P1383L;ENSP00000354505:P1377L	ENSP00000331902:P1383L	P	+	2	0	COL4A5	107811706	0.611000	0.26992	1.000000	0.80357	0.797000	0.45037	1.380000	0.34351	2.196000	0.70406	0.506000	0.49869	CCT		0.463	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			31	56	0	0	0	1	0	31	56				
SLC26A3	1811	broad.mit.edu	37	7	107427951	107427951	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107427951G>A	ENST00000340010.5	-	7	923	c.739C>T	c.(739-741)Cta>Tta	p.L247L	SLC26A3_ENST00000422236.2_Silent_p.L212L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	247					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(739-741)Cta>Tta		solute carrier family 26 (anion exchanger), member 3							74.0	76.0	75.0					7																	107427951		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107427951G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.739C>T	7.37:g.107427951G>A						SLC26A3_ENST00000422236.2_Silent_p.L212L	p.L247L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			7	923	-			247						Silent	SNP	ENST00000340010.5	37	c.739C>T	CCDS5748.1																																																																																				0.323	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		73	41	0	0	0	1	0	73	41				
GDF5	8200	broad.mit.edu	37	20	34025186	34025186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34025186A>G	ENST00000374372.1	-	3	1026	c.523T>C	c.(523-525)Tcg>Ccg	p.S175P	GDF5_ENST00000374369.3_Missense_Mutation_p.S175P			P43026	GDF5_HUMAN	growth differentiation factor 5	175					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGTACAGCGAGAGCATGTAC	0.612																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(523-525)Tcg>Ccg		growth differentiation factor 5							70.0	65.0	67.0					20																	34025186		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34025186A>G	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.523T>C	20.37:g.34025186A>G	ENSP00000363492:p.Ser175Pro					GDF5_ENST00000374369.3_Missense_Mutation_p.S175P	p.S175P			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		3	1026	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		175					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.523T>C	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774581	0.70107	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.66099	-0.19;-0.19	4.48	4.48	0.54585	Transforming growth factor-beta, N-terminal (1);	0.172118	0.38492	N	0.001673	T	0.78541	0.4299	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.83275	0.995;0.996	T	0.81826	-0.0754	10	0.72032	D	0.01	.	13.9066	0.63839	1.0:0.0:0.0:0.0	.	175;175	F1T0J1;P43026	.;GDF5_HUMAN	P	175	ENSP00000363489:S175P;ENSP00000363492:S175P	ENSP00000363489:S175P	S	-	1	0	GDF5	33488600	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.073000	0.71245	1.866000	0.54105	0.260000	0.18958	TCG		0.612	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			26	46	0	0	0	1	0	26	46				
TENM2	57451	broad.mit.edu	37	5	167674104	167674104	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167674104C>A	ENST00000518659.1	+	27	6199	c.6160C>A	c.(6160-6162)Ctc>Atc	p.L2054I	TENM2_ENST00000520394.1_Missense_Mutation_p.L1815I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2053I|TENM2_ENST00000519204.1_Missense_Mutation_p.L1933I|TENM2_ENST00000403607.2_Missense_Mutation_p.L1878I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2054					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATGGTCAACCTCCAAAGTGG	0.532																																						ENST00000519204.1																			0											c.(5797-5799)Ctc>Atc		teneurin transmembrane protein 2							79.0	79.0	79.0					5																	167674104		1942	4143	6085	SO:0001583	missense	57451							g.chr5:167674104C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6160C>A	5.37:g.167674104C>A	ENSP00000429430:p.Leu2054Ile					TENM2_ENST00000520394.1_Missense_Mutation_p.L1815I|TENM2_ENST00000403607.2_Missense_Mutation_p.L1878I|TENM2_ENST00000518659.1_Missense_Mutation_p.L2054I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2053I	p.L1933I							26	5915	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5797C>A		.	.	.	.	.	.	.	.	.	.	C	17.70	3.453661	0.63290	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89875	-2.12;-2.1;-2.21;-2.55;-2.58	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	M	0.84433	2.695	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.999;0.997;0.979	D	0.93611	0.6939	10	0.39692	T	0.17	.	13.0114	0.58733	0.0:0.916:0.0:0.084	.	2053;2054;1815	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2054;2053;1933;1815;1878	ENSP00000429430:L2054I;ENSP00000438635:L2053I;ENSP00000428964:L1933I;ENSP00000427874:L1815I;ENSP00000384905:L1878I	ENSP00000384905:L1878I	L	+	1	0	ODZ2	167606682	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.094000	0.41719	2.560000	0.86352	0.561000	0.74099	CTC		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		7	75	1	0	0.0381472	1	0.0390147	7	75				
ZNF74	7625	broad.mit.edu	37	22	20760798	20760798	+	Missense_Mutation	SNP	G	G	A	rs199814477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20760798G>A	ENST00000400451.2	+	5	1989	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.R460H|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.R492H	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	492					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGCACCGGCGCATCCACACA	0.637																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1474-1476)cGc>cAc		zinc finger protein 74							67.0	75.0	72.0					22																	20760798		2203	4300	6503	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760798G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1475G>A	22.37:g.20760798G>A	ENSP00000383301:p.Arg492His					ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.R460H|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.R492H	p.R492H	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1989	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	492					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1475G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768197	0.69878	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.25749	1.78;1.78;1.78	3.75	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37857	N	0.001909	T	0.48840	0.1522	M	0.71581	2.175	0.23572	N	0.997383	D	0.89917	1.0	D	0.91635	0.999	T	0.33624	-0.9861	10	0.87932	D	0	-44.6768	13.9073	0.63843	0.0:0.0:1.0:0.0	.	492	Q16587	ZNF74_HUMAN	H	492;492;460	ENSP00000383301:R492H;ENSP00000349098:R492H;ENSP00000385855:R460H	ENSP00000349098:R492H	R	+	2	0	ZNF74	19090798	0.000000	0.05858	0.758000	0.31321	0.537000	0.34900	0.612000	0.24283	2.393000	0.81446	0.650000	0.86243	CGC		0.637	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		24	36	0	0	0	1	0	24	36				
PLCE1	51196	broad.mit.edu	37	10	96012083	96012083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96012083G>A	ENST00000371380.3	+	8	3342	c.3107G>A	c.(3106-3108)cGg>cAg	p.R1036Q	PLCE1_ENST00000260766.3_Missense_Mutation_p.R1036Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R728Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R728Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1036					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGGATGGACGGTATGAAGGC	0.493																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3106-3108)cGg>cAg		phospholipase C, epsilon 1							113.0	115.0	114.0					10																	96012083		2076	4216	6292	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96012083G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3107G>A	10.37:g.96012083G>A	ENSP00000360431:p.Arg1036Gln					PLCE1_ENST00000371380.2_Missense_Mutation_p.R1036Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R728Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R728Q	p.R1036Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			9	3741	+		Colorectal(252;0.0458)	1036					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3107G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949053	0.92660	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.54323	1.7	0.48236	D	0.999613	D;D;P	0.65815	0.977;0.995;0.947	P;P;B	0.55303	0.598;0.773;0.244	T	0.12837	-1.0532	10	0.38643	T	0.18	.	20.2504	0.98404	0.0:0.0:1.0:0.0	.	1036;728;1036	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1036;1036;728;728	ENSP00000260766:R1036Q;ENSP00000360431:R1036Q;ENSP00000360438:R728Q;ENSP00000360426:R728Q	ENSP00000260766:R1036Q	R	+	2	0	PLCE1	96002073	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.319000	0.65835	2.850000	0.98022	0.650000	0.86243	CGG		0.493	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		22	43	0	0	0	1	0	22	43				
NINL	22981	broad.mit.edu	37	20	25434110	25434110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434110C>T	ENST00000278886.6	-	24	4199	c.4126G>A	c.(4126-4128)Gcc>Acc	p.A1376T	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.A1027T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1376					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGCGGGGGCAATCCTACTG	0.498																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(4126-4128)Gcc>Acc		ninein-like							94.0	99.0	97.0					20																	25434110		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25434110C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.4126G>A	20.37:g.25434110C>T	ENSP00000278886:p.Ala1376Thr					NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.A1027T	p.A1376T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			24	4199	-			1376					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.4126G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	7.325	0.617701	0.14129	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.39056	1.1;1.1	5.04	1.55	0.23275	.	0.491635	0.19871	N	0.104188	T	0.24509	0.0594	L	0.31065	0.9	0.09310	N	1	B;B;B	0.33022	0.084;0.063;0.394	B;B;B	0.30782	0.028;0.043;0.12	T	0.10451	-1.0629	10	0.44086	T	0.13	-9.5153	4.1051	0.10033	0.1776:0.5455:0.0:0.277	.	1027;1376;167	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	T	1376;1027	ENSP00000278886:A1376T;ENSP00000410431:A1027T	ENSP00000278886:A1376T	A	-	1	0	NINL	25382110	0.524000	0.26282	0.008000	0.14137	0.632000	0.37999	1.262000	0.32992	0.578000	0.29487	0.655000	0.94253	GCC		0.498	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		34	34	0	0	0	1	0	34	34				
IFT172	26160	broad.mit.edu	37	2	27676877	27676877	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27676877C>A	ENST00000260570.3	-	33	3786	c.3683G>T	c.(3682-3684)aGa>aTa	p.R1228I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1228					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGGCCTGGTCTCTGGGCCCG	0.617																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3682-3684)aGa>aTa		intraflagellar transport 172 homolog (Chlamydomonas)							42.0	49.0	46.0					2																	27676877		2202	4300	6502	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27676877C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3683G>T	2.37:g.27676877C>A	ENSP00000260570:p.Arg1228Ile						p.R1228I	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			33	3786	-	Acute lymphoblastic leukemia(172;0.155)		1228					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3683G>T	CCDS1755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.784412|4.784412	0.90282|0.90282	.|.	.|.	ENSG00000138002|ENSG00000138002	ENST00000443889|ENST00000260570	.|T	.|0.54866	.|0.55	5.7|5.7	4.83|4.83	0.62350|0.62350	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73760|0.73760	0.3628|0.3628	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.67725	.|0.953	T|T	0.77498|0.77498	-0.2565|-0.2565	5|10	.|0.49607	.|T	.|0.09	-13.7085|-13.7085	13.4207|13.4207	0.60996|0.60996	0.0:0.9236:0.0:0.0764|0.0:0.9236:0.0:0.0764	.|.	.|1228	.|Q9UG01	.|IF172_HUMAN	D|I	96|1228	.|ENSP00000260570:R1228I	.|ENSP00000260570:R1228I	E|R	-|-	3|2	2|0	IFT172|IFT172	27530381|27530381	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	4.435000|4.435000	0.59941|0.59941	1.423000|1.423000	0.47198|0.47198	-0.379000|-0.379000	0.06801|0.06801	GAG|AGA		0.617	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		22	55	1	0	9.57634e-11	1	1.18454e-10	22	55				
ARHGAP20	57569	broad.mit.edu	37	11	110451259	110451259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451259G>A	ENST00000260283.4	-	16	2695	c.2411C>T	c.(2410-2412)gCa>gTa	p.A804V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A778V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A347V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A781V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A778V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	804					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACTATAAGATGCCACAGAAAT	0.448																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(2410-2412)gCa>gTa		Rho GTPase activating protein 20							116.0	114.0	114.0					11																	110451259		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451259G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2411C>T	11.37:g.110451259G>A	ENSP00000260283:p.Ala804Val					ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A778V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A781V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A347V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A778V	p.A804V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2695	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	804					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2411C>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818684	0.32145	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.11277	2.79;2.79;2.82;2.79;2.8;2.79;2.8	4.82	3.91	0.45181	.	0.270585	0.30219	N	0.010137	T	0.23133	0.0559	M	0.65975	2.015	0.25718	N	0.985403	D;D;D	0.76494	0.999;0.997;0.999	D;P;D	0.66602	0.945;0.882;0.945	T	0.09207	-1.0685	10	0.59425	D	0.04	.	4.1162	0.10083	0.0876:0.1446:0.5975:0.1703	.	778;804;781	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	804;778;347;781;768;778;768	ENSP00000260283:A804V;ENSP00000349660:A778V;ENSP00000437905:A347V;ENSP00000432076:A781V;ENSP00000436319:A768V;ENSP00000436522:A778V;ENSP00000431399:A768V	ENSP00000260283:A804V	A	-	2	0	ARHGAP20	109956469	0.924000	0.31332	0.874000	0.34290	0.191000	0.23601	1.498000	0.35660	1.047000	0.40274	-0.362000	0.07510	GCA		0.448	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		39	75	0	0	0	1	0	39	75				
STXBP5L	9515	broad.mit.edu	37	3	121126125	121126125	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126125T>C	ENST00000273666.6	+	24	2966	c.2695T>C	c.(2695-2697)Ttc>Ctc	p.F899L	STXBP5L_ENST00000492541.1_Missense_Mutation_p.F899L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.F875L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.F875L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.F873L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	899					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGCTAACATTCTCCTGTAT	0.373																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2695-2697)Ttc>Ctc		syntaxin binding protein 5-like							59.0	57.0	58.0					3																	121126125		1848	4090	5938	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126125T>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2695T>C	3.37:g.121126125T>C	ENSP00000273666:p.Phe899Leu					STXBP5L_ENST00000471454.1_Missense_Mutation_p.F875L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.F899L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.F873L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.F875L	p.F899L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	2966	+			899					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2695T>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995227	0.54147	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36520	1.25;1.25;2.12;2.12;2.12;1.25	5.1	3.93	0.45458	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	L	0.50919	1.6	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.991	T	0.35176	-0.9799	10	0.16420	T	0.52	-12.1575	11.3229	0.49433	0.1363:0.0:0.0:0.8637	.	875;899	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	L	899;875;875;873;899;842	ENSP00000273666:F899L;ENSP00000420019:F875L;ENSP00000419627:F875L;ENSP00000420287:F873L;ENSP00000420666:F899L;ENSP00000420167:F842L	ENSP00000273666:F899L	F	+	1	0	STXBP5L	122608815	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.712000	0.68407	0.948000	0.37687	-0.341000	0.08007	TTC		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			6	60	0	0	0	1	0	6	60				
UBXN11	91544	broad.mit.edu	37	1	26611954	26611954	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26611954C>T	ENST00000374222.1	-	11	1317		c.e11+1		UBXN11_ENST00000357089.4_Splice_Site|UBXN11_ENST00000374221.3_Splice_Site|UBXN11_ENST00000374217.2_Splice_Site|UBXN11_ENST00000314675.7_Splice_Site|UBXN11_ENST00000374223.1_Splice_Site|UBXN11_ENST00000535108.1_Missense_Mutation_p.V127M|UBXN11_ENST00000436301.2_Missense_Mutation_p.V210M			Q5T124	UBX11_HUMAN	UBX domain protein 11							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CAGCTTATCACCTTAAAGGGG	0.557											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000436301.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(628-630)Gtg>Atg		UBX domain protein 11							32.0	38.0	36.0					1																	26611954		2056	4212	6268	SO:0001630	splice_region_variant	91544					cytoplasm|cytoskeleton		g.chr1:26611954C>T	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.852+1G>A	1.37:g.26611954C>T			OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	788	UBXN11_ENST00000357089.4_Splice_Site|UBXN11_ENST00000314675.7_Splice_Site|UBXN11_ENST00000374223.1_Splice_Site|UBXN11_ENST00000374217.2_Splice_Site|UBXN11_ENST00000374222.1_Splice_Site|UBXN11_ENST00000535108.1_Missense_Mutation_p.V127M|UBXN11_ENST00000374221.3_Splice_Site	p.V210M			Q5T124	UBX11_HUMAN			8	727	-			285					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.628G>A	CCDS41288.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.794409|4.794409	0.90453|0.90453	.|.	.|.	ENSG00000158062|ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217|ENST00000535108;ENST00000436301;ENST00000374215	.|T;T;T	.|0.60299	.|0.37;0.25;0.2	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77818	.|0.4187	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.71414	.|0.973;0.952	.|T	.|0.81450	.|-0.0927	.|8	.|0.87932	.|D	.|0	.|.	18.5944|18.5944	0.91225|0.91225	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|127;210	.|B7Z1T8;B7Z3N8	.|.;.	.|M	-1|127;210;247	.|ENSP00000446034:V127M;ENSP00000393858:V210M;ENSP00000363332:V247M	.|ENSP00000363332:V247M	.|V	-|-	.|1	.|0	UBXN11|UBXN11	26484541|26484541	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.905000|0.905000	0.53344|0.53344	6.979000|6.979000	0.76154|0.76154	2.387000|2.387000	0.81309|0.81309	0.543000|0.543000	0.68304|0.68304	.|GTG		0.557	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345	Intron	5	12	0	0	0	1	0	5	12				
SIGLEC1	6614	broad.mit.edu	37	20	3684577	3684577	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3684577G>A	ENST00000344754.4	-	4	867	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SIGLEC1_ENST00000202578.4_Silent_p.L290L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	290	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGTGCAGCACACCAGTC	0.602																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(868-870)Ctg>Ttg		sialic acid binding Ig-like lectin 1, sialoadhesin							103.0	75.0	85.0					20																	3684577		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3684577G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.868C>T	20.37:g.3684577G>A						SIGLEC1_ENST00000202578.4_Silent_p.L290L	p.L290L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			4	867	-			290			Ig-like C2-type 2.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.868C>T	CCDS13060.1																																																																																				0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		15	23	0	0	0	1	0	15	23				
RPL26L1	51121	broad.mit.edu	37	5	172387010	172387010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172387010G>A	ENST00000521476.1	+	2	258	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.2_ENST00000519755.1_lincRNA|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R45H|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R45H|CTC-308K20.1_ENST00000520067.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R45H			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	45					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACAATGTCCGCTCCATGCCC	0.592																																						ENST00000521476.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(133-135)cGc>cAc		ribosomal protein L26-like 1							123.0	107.0	112.0					5																	172387010		2203	4300	6503	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172387010G>A	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.134G>A	5.37:g.172387010G>A	ENSP00000428223:p.Arg45His					RPL26L1_ENST00000519974.1_Missense_Mutation_p.R45H|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R45H|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R45H	p.R45H			Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	258	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	45					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.134G>A	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803419	0.90623	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.89	3.1	0.35709	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.100323	0.64402	N	0.000003	T	0.75939	0.3918	M	0.93678	3.445	0.58432	D	0.999996	D	0.57571	0.98	P	0.51833	0.681	T	0.79463	-0.1793	9	0.87932	D	0	.	9.5342	0.39213	0.0739:0.0:0.7836:0.1425	.	45	Q9UNX3	RL26L_HUMAN	H	45	.	ENSP00000265100:R45H	R	+	2	0	RPL26L1	172319616	1.000000	0.71417	0.556000	0.28293	0.732000	0.41865	3.122000	0.50446	0.657000	0.30906	0.643000	0.83706	CGC		0.592	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		5	69	0	0	0	1	0	5	69				
GABRB1	2560	broad.mit.edu	37	4	47427823	47427823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427823C>T	ENST00000295454.3	+	9	1505	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R335C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	405					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCCAGTACCGCAAGCCCCT	0.662																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1213-1215)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						39.0	46.0	44.0					4																	47427823		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427823C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1213C>T	4.37:g.47427823C>T	ENSP00000295454:p.Arg405Cys					GABRB1_ENST00000538619.1_Missense_Mutation_p.R335C	p.R405C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1505	+			405					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1213C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862572	0.71949	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86164	-2.08;-2.08	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.145674	0.46145	D	0.000310	D	0.93831	0.8027	M	0.87758	2.905	0.80722	D	1	B;D	0.89917	0.358;1.0	B;D	0.87578	0.105;0.998	D	0.94028	0.7298	10	0.62326	D	0.03	-13.921	13.9821	0.64310	0.187:0.813:0.0:0.0	.	335;405	F5GXV5;P18505	.;GBRB1_HUMAN	C	405;335	ENSP00000295454:R405C;ENSP00000440330:R335C	ENSP00000295454:R405C	R	+	1	0	GABRB1	47122580	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.968000	0.49224	2.803000	0.96430	0.650000	0.86243	CGC		0.662	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			5	52	0	0	0	1	0	5	52				
BTN2A2	10385	broad.mit.edu	37	6	26385353	26385353	+	Missense_Mutation	SNP	C	C	T	rs375285642	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26385353C>T	ENST00000356709.4	+	3	316	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R69W|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000352867.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	69	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGAGGTGCGGTGGTTCCG	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.002					ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(205-207)Cgg>Tgg		butyrophilin, subfamily 2, member A2		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,,	1,4405	2.1+/-5.4	0,1,2202	155.0	129.0	138.0		205,205,205,205,,	1.6	1.0	6		138	0,8596		0,0,4298	no	missense,missense,missense,missense,intron,intron	BTN2A2	NM_001197237.1,NM_001197238.1,NM_001197240.1,NM_006995.4,NM_001197239.1,NM_181531.2	101,101,101,101,,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	69/524,69/337,69/257,69/524,,	26385353	1,13001	2203	4298	6501	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385353C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.205C>T	6.37:g.26385353C>T	ENSP00000349143:p.Arg69Trp					BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R69W|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R69W	p.R69W	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			3	316	+			69			Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.205C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	17.95	3.514427	0.64522	2.27E-4	0.0	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795;ENST00000494184	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;4.13	3.75	1.59	0.23543	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000233	T	0.74427	0.3715	M	0.89968	3.075	0.33948	D	0.644131	P;D;D	0.89917	0.614;1.0;0.998	B;D;D	0.83275	0.127;0.996;0.95	T	0.73754	-0.3883	10	0.87932	D	0	.	5.5764	0.17225	0.2374:0.6357:0.0:0.1269	.	69;69;69	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	W	69	ENSP00000417472:R69W;ENSP00000349143:R69W;ENSP00000418857:R69W;ENSP00000394241:R69W;ENSP00000399308:R69W;ENSP00000417511:R69W	ENSP00000349143:R69W	R	+	1	2	BTN2A2	26493332	0.519000	0.26242	0.999000	0.59377	0.989000	0.77384	0.256000	0.18351	0.561000	0.29186	0.449000	0.29647	CGG		0.547	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			13	27	0	0	0	1	0	13	27				
CLCN5	1184	broad.mit.edu	37	X	49856787	49856787	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49856787C>T	ENST00000307367.2	+	12	2443	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	CLCN5_ENST00000376088.3_Splice_Site_p.R788*|CLCN5_ENST00000376091.3_Splice_Site_p.R788*|CLCN5_ENST00000376108.3_Splice_Site_p.R718*			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	718	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTCTTTTAGGCGATTGCTTGG	0.353																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	GRCh37	CM033762	CLCN5	M		c.e15-1		chloride channel, voltage-sensitive 5							103.0	83.0	90.0					X																	49856787		2203	4300	6503	SO:0001630	splice_region_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49856787C>T	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2151-1C>T	X.37:g.49856787C>T						CLCN5_ENST00000376108.3_Splice_Site_p.R718_splice|CLCN5_ENST00000376091.3_Splice_Site_p.R788_splice|CLCN5_ENST00000307367.2_Splice_Site_p.R718_splice	p.R788_splice	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			15	3003	+	Ovarian(276;0.236)		718					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Splice_Site	SNP	ENST00000307367.2	37	c.2360_splice	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	39	7.540712	0.98348	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	.	.	.	5.42	3.48	0.39840	.	0.110211	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9965	11.7687	0.51945	0.4148:0.5852:0.0:0.0	.	.	.	.	X	788;620;788;718;718	.	ENSP00000304257:R718X	R	+	1	2	CLCN5	49743527	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	1.530000	0.36007	1.127000	0.42034	0.513000	0.50165	CGA		0.353	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		Nonsense_Mutation	14	36	0	0	0	1	0	14	36				
SKP2	6502	broad.mit.edu	37	5	36168426	36168426	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36168426T>C	ENST00000274255.6	+	5	744	c.548T>C	c.(547-549)gTa>gCa	p.V183A	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.V183A|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTCGTGTACAGCACATG	0.498																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(547-549)gTa>gCa		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							260.0	272.0	268.0					5																	36168426		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36168426T>C	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.548T>C	5.37:g.36168426T>C	ENSP00000274255:p.Val183Ala					SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.V183A	p.V183A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	744	+	all_lung(31;5.63e-05)		183					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.548T>C	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673278	0.67928	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.18810	2.19;2.19	5.43	5.43	0.79202	.	0.287429	0.33631	N	0.004704	T	0.36166	0.0957	M	0.78801	2.425	0.80722	D	1	D;P	0.54397	0.966;0.662	P;B	0.50825	0.651;0.311	T	0.29336	-1.0015	10	0.72032	D	0.01	-8.8968	11.881	0.52576	0.0:0.0:0.0:1.0	.	183;183	Q13309-2;Q13309	.;SKP2_HUMAN	A	183;183;149	ENSP00000274254:V183A;ENSP00000274255:V183A	ENSP00000274254:V183A	V	+	2	0	SKP2	36204183	1.000000	0.71417	0.500000	0.27589	0.797000	0.45037	5.835000	0.69368	2.053000	0.61076	0.460000	0.39030	GTA		0.498	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		20	269	0	0	0	1	0	20	269				
LAMB4	22798	broad.mit.edu	37	7	107752304	107752304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107752304C>T	ENST00000388781.3	-	4	363	c.280G>A	c.(280-282)Gta>Ata	p.V94I	LAMB4_ENST00000418464.1_Missense_Mutation_p.V94I|LAMB4_ENST00000205386.4_Missense_Mutation_p.V94I|LAMB4_ENST00000388780.3_Missense_Mutation_p.V94I|LAMB4_ENST00000414450.2_Missense_Mutation_p.V94I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	94	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTTACAATGACATTC	0.363																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(280-282)Gta>Ata		laminin, beta 4							181.0	173.0	176.0					7																	107752304		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107752304C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.280G>A	7.37:g.107752304C>T	ENSP00000373433:p.Val94Ile					LAMB4_ENST00000388780.3_Missense_Mutation_p.V94I|LAMB4_ENST00000205386.4_Missense_Mutation_p.V94I|LAMB4_ENST00000414450.2_Missense_Mutation_p.V94I	p.V94I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			4	363	-			94			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.280G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305667	0.40795	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.35	-8.39	0.00969	Laminin, N-terminal (3);	0.224693	0.30949	N	0.008551	T	0.39118	0.1066	N	0.08118	0	0.09310	N	1	B	0.27791	0.189	B	0.25614	0.062	T	0.21999	-1.0229	10	0.66056	D	0.02	.	0.8029	0.01078	0.2033:0.1913:0.3137:0.2917	.	94	A4D0S4	LAMB4_HUMAN	I	94	ENSP00000205386:V94I;ENSP00000373433:V94I;ENSP00000373432:V94I;ENSP00000402353:V94I;ENSP00000402265:V94I	ENSP00000205386:V94I	V	-	1	0	LAMB4	107539540	0.993000	0.37304	0.001000	0.08648	0.812000	0.45895	0.531000	0.23052	-1.547000	0.01715	0.655000	0.94253	GTA		0.363	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		34	111	0	0	0	1	0	34	111				
SMS	6611	broad.mit.edu	37	X	21990049	21990049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21990049G>A	ENST00000404933.2	+	3	457	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SMS_ENST00000415881.2_Intron|SMS_ENST00000478094.1_Intron|SMS_ENST00000379404.1_Intron	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	69					cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ACATGGATTGGTGTTGCTGGA	0.368																																						ENST00000404933.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14						c.(205-207)Gtg>Atg		spermine synthase	Spermine(DB00127)						118.0	100.0	106.0					X																	21990049		2203	4300	6503	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21990049G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.205G>A	X.37:g.21990049G>A	ENSP00000385746:p.Val69Met					SMS_ENST00000379404.1_Intron|SMS_ENST00000478094.1_Intron|SMS_ENST00000415881.2_Intron	p.V69M	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN			3	457	+			69					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.205G>A	CCDS14203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.427337|4.427337	0.83667|0.83667	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000457085|ENST00000404933	.|D	.|0.84660	.|-1.88	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.053469	.|0.85682	.|D	.|0.000000	D|D	0.87196|0.87196	0.6117|0.6117	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.57425	.|0.82	D|D	0.88642|0.88642	0.3176|0.3176	5|10	.|0.72032	.|D	.|0.01	-13.2938|-13.2938	18.6709|18.6709	0.91512|0.91512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|69	.|P52788	.|SPSY_HUMAN	D|M	160|69	.|ENSP00000385746:V69M	.|ENSP00000385746:V69M	G|V	+|+	2|1	0|0	SMS|SMS	21899970|21899970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	8.149000|8.149000	0.89632|0.89632	2.352000|2.352000	0.79861|0.79861	0.600000|0.600000	0.82982|0.82982	GGT|GTG		0.368	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		31	36	0	0	0	1	0	31	36				
POLD2	5425	broad.mit.edu	37	7	44154395	44154395	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44154395G>T	ENST00000406581.2	-	12	2048	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	POLD2_ENST00000452185.1_Missense_Mutation_p.L467M|POLD2_ENST00000223361.3_Missense_Mutation_p.L453M	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	467					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGGGGCCCAGCCCCAGGCCT	0.602																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1399-1401)Ctg>Atg		polymerase (DNA directed), delta 2, accessory subunit							25.0	28.0	27.0					7																	44154395		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154395G>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1399C>A	7.37:g.44154395G>T	ENSP00000386105:p.Leu467Met					POLD2_ENST00000452185.1_Missense_Mutation_p.L467M|POLD2_ENST00000223361.3_Missense_Mutation_p.L453M	p.L467M	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			12	2048	-			467					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.1399C>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039831	0.35989	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.49139	0.82;0.79;0.82	5.45	1.13	0.20643	.	0.782736	0.11409	N	0.566959	T	0.33469	0.0864	L	0.34521	1.04	0.21445	N	0.99969	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.24154	-1.0168	10	0.42905	T	0.14	-7.7056	6.4109	0.21690	0.2368:0.0:0.6252:0.1381	.	467;453	P49005;F8W8R3	DPOD2_HUMAN;.	M	467;453;467	ENSP00000386105:L467M;ENSP00000223361:L453M;ENSP00000395231:L467M	ENSP00000223361:L453M	L	-	1	2	POLD2	44120920	0.012000	0.17670	0.977000	0.42913	0.593000	0.36681	0.353000	0.20130	0.292000	0.22492	0.561000	0.74099	CTG		0.602	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		7	31	1	0	5.18039e-06	1	5.91835e-06	7	31				
ALKBH1	8846	broad.mit.edu	37	14	78142174	78142174	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78142174A>G	ENST00000216489.3	-	5	580	c.565T>C	c.(565-567)Tac>Cac	p.Y189H		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	189					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAAGGTGTGTAATGATCTGCT	0.393																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(565-567)Tac>Cac		alkB, alkylation repair homolog 1 (E. coli)							86.0	87.0	87.0					14																	78142174		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78142174A>G	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.565T>C	14.37:g.78142174A>G	ENSP00000216489:p.Tyr189His						p.Y189H	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	580	-			189					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.565T>C	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.073542	0.36566	.	.	ENSG00000100601	ENST00000216489	T	0.12039	2.72	6.17	5.02	0.67125	.	0.108244	0.64402	D	0.000012	T	0.06554	0.0168	N	0.10618	0.005	0.41950	D	0.990655	B	0.20550	0.046	B	0.22601	0.04	T	0.38001	-0.9681	10	0.15952	T	0.53	-31.751	8.923	0.35623	0.8117:0.0:0.1883:0.0	.	189	Q13686	ALKB1_HUMAN	H	189	ENSP00000216489:Y189H	ENSP00000216489:Y189H	Y	-	1	0	ALKBH1	77211927	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.286000	0.43496	2.371000	0.80710	0.533000	0.62120	TAC		0.393	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		19	33	0	0	0	1	0	19	33				
TCFL5	10732	broad.mit.edu	37	20	61488955	61488955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61488955G>A	ENST00000335351.3	-	4	1122	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TCFL5_ENST00000217162.5_Missense_Mutation_p.R296W	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	344					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ATTCTACTCCGATTCCTCTTC	0.443																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(1030-1032)Cgg>Tgg		transcription factor-like 5 (basic helix-loop-helix)							94.0	84.0	87.0					20																	61488955		2203	4300	6503	SO:0001583	missense	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488955G>A	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1030C>T	20.37:g.61488955G>A	ENSP00000334294:p.Arg344Trp					TCFL5_ENST00000217162.5_Missense_Mutation_p.R296W	p.R344W	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			4	1122	-	Breast(26;5.68e-08)		344					O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	c.1030C>T	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204095	0.58234	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.38560	1.15;1.13	5.18	5.18	0.71444	.	0.430790	0.19850	N	0.104654	T	0.50274	0.1606	L	0.32530	0.975	0.29592	N	0.848326	D;D	0.76494	0.999;0.999	D;P	0.63488	0.915;0.857	T	0.49890	-0.8891	10	0.66056	D	0.02	-1.9464	12.5835	0.56403	0.0873:0.0:0.9127:0.0	.	296;344	F8W9A4;Q9UL49	.;TCFL5_HUMAN	W	344;296	ENSP00000334294:R344W;ENSP00000217162:R296W	ENSP00000217162:R296W	R	-	1	2	TCFL5	60959400	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.920000	0.63390	2.428000	0.82296	0.485000	0.47835	CGG		0.443	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		27	44	0	0	0	1	0	27	44				
PRAMEF11	440560	broad.mit.edu	37	1	12887407	12887407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887407C>T	ENST00000535591.1	-	3	645	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	150					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCGGAAGGGCATTCCCAAAA	0.468																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(448-450)atG>atA		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887407C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.450G>A	1.37:g.12887407C>T	ENSP00000439551:p.Met150Ile						p.M150I	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	645	-			150						Missense_Mutation	SNP	ENST00000535591.1	37	c.450G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	5.950	0.359232	0.11239	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.00824	5.65;5.65	1.48	0.469	0.16741	.	1.597380	0.03346	N	0.195456	T	0.01353	0.0044	L	0.48174	1.505	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48387	-0.9040	10	0.42905	T	0.14	.	5.5346	0.17003	0.0:0.6473:0.3527:0.0	.	150	O60813	PRA11_HUMAN	I	150;191;150	ENSP00000439551:M150I;ENSP00000391839:M150I	ENSP00000328783:M191I	M	-	3	0	PRAMEF11	12809994	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.257000	0.02866	0.162000	0.19483	0.400000	0.26472	ATG		0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		18	294	0	0	0	1	0	18	294				
SCRIB	23513	broad.mit.edu	37	8	144893380	144893380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144893380C>T	ENST00000320476.3	-	10	1048	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.A267T|SCRIB_ENST00000356994.2_Missense_Mutation_p.A348T	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	348	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGGACGGCCAGGCGGTTG	0.687																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1042-1044)Gcc>Acc		scribbled planar cell polarity protein							29.0	25.0	26.0					8																	144893380		2200	4296	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893380C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1042G>A	8.37:g.144893380C>T	ENSP00000322938:p.Ala348Thr					SCRIB_ENST00000320476.3_Missense_Mutation_p.A348T|SCRIB_ENST00000377533.3_Missense_Mutation_p.A267T	p.A348T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		10	1048	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		348			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1042G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903220	0.17760	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.76060	-0.99;-0.99;-0.99	3.58	1.65	0.23941	.	.	.	.	.	T	0.50582	0.1624	N	0.01751	-0.74	0.28723	N	0.902914	D;B	0.55800	0.973;0.178	P;B	0.51170	0.661;0.237	T	0.44997	-0.9291	9	0.20046	T	0.44	.	3.9713	0.09454	0.1891:0.6075:0.0:0.2033	.	348;348	Q14160;Q14160-3	SCRIB_HUMAN;.	T	348;348;267	ENSP00000349486:A348T;ENSP00000322938:A348T;ENSP00000366756:A267T	ENSP00000322938:A348T	A	-	1	0	SCRIB	144965368	1.000000	0.71417	0.543000	0.28128	0.002000	0.02628	1.883000	0.39658	0.273000	0.22049	-0.251000	0.11542	GCC		0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		8	5	0	0	0	1	0	8	5				
CCT4	10575	broad.mit.edu	37	2	62100196	62100196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62100196G>T	ENST00000394440.3	-	10	1362	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	CCT4_ENST00000538252.1_Missense_Mutation_p.L300M|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.L326M|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Missense_Mutation_p.L206M	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	356					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GCAGAACCCAGCATGTCAGCA	0.363																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1066-1068)Ctg>Atg		chaperonin containing TCP1, subunit 4 (delta)							182.0	195.0	190.0					2																	62100196		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62100196G>T		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1066C>A	2.37:g.62100196G>T	ENSP00000377958:p.Leu356Met					CCT4_ENST00000538252.1_Missense_Mutation_p.L300M|CCT4_ENST00000544079.1_Missense_Mutation_p.L326M|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.L206M	p.L356M	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		10	1362	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		356					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1066C>A	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445773	0.63178	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.86	3.11	0.35812	.	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.91406	3.205	0.80722	D	1	B;P	0.38992	0.384;0.653	P;P	0.52710	0.639;0.707	D	0.90337	0.4356	10	0.66056	D	0.02	-8.4652	9.4537	0.38743	0.3294:0.0:0.6706:0.0	.	326;356	F5H5W3;P50991	.;TCPD_HUMAN	M	356;326;206;300	ENSP00000377958:L356M;ENSP00000443061:L326M;ENSP00000443451:L206M;ENSP00000442174:L300M	ENSP00000377958:L356M	L	-	1	2	CCT4	61953700	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.236000	0.43052	0.488000	0.27723	-0.145000	0.13849	CTG		0.363	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			14	222	1	0	6.72482e-11	1	8.32712e-11	14	222				
CYP26B1	56603	broad.mit.edu	37	2	72360211	72360211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360211G>A	ENST00000001146.2	-	5	1290	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288C|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172C	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	363			R -> L (in RHFCA; dbSNP:rs281875231). {ECO:0000269|PubMed:22019272}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTGAACAGGCGCATGACCTCC	0.672																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1087-1089)Cgc>Tgc		cytochrome P450, family 26, subfamily B, polypeptide 1							66.0	57.0	60.0					2																	72360211		2203	4299	6502	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360211G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1087C>T	2.37:g.72360211G>A	ENSP00000001146:p.Arg363Cys					CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172C|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288C	p.R363C	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			5	1290	-			363					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1087C>T	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193024	0.78902	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	D;D;D	0.97505	-4.41;-4.41;-4.41	5.64	4.73	0.59995	.	0.048025	0.85682	D	0.000000	D	0.98770	0.9586	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99612	1.0981	10	0.87932	D	0	-12.3399	14.5611	0.68136	0.0:0.0:0.8479:0.152	.	288;346;363	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	C	363;172;288	ENSP00000001146:R363C;ENSP00000401465:R172C;ENSP00000443304:R288C	ENSP00000001146:R363C	R	-	1	0	CYP26B1	72213719	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.769000	0.55303	1.470000	0.48102	0.650000	0.86243	CGC		0.672	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		13	24	0	0	0	1	0	13	24				
RPP40	10799	broad.mit.edu	37	6	4996278	4996278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996278G>T	ENST00000380051.2	-	7	844	c.800C>A	c.(799-801)cCt>cAt	p.P267H	RPP40_ENST00000319533.5_Missense_Mutation_p.P244H|RPP40_ENST00000464646.1_Missense_Mutation_p.P207H	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	267					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCTTGGCTCAGGACAGCAATA	0.383																																						ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(799-801)cCt>cAt		ribonuclease P/MRP 40kDa subunit							91.0	91.0	91.0					6																	4996278		2203	4300	6503	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:4996278G>T	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.800C>A	6.37:g.4996278G>T	ENSP00000369391:p.Pro267His					RPP40_ENST00000464646.1_Missense_Mutation_p.P207H|RPP40_ENST00000319533.5_Missense_Mutation_p.P244H	p.P267H	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			7	844	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	267					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.800C>A	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796981	0.70567	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.53206	0.63;0.63;0.63	5.16	4.27	0.50696	.	0.049184	0.85682	D	0.000000	T	0.62950	0.2470	M	0.83603	2.65	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.83275	0.983;0.996	T	0.70894	-0.4748	10	0.72032	D	0.01	-14.2892	13.9341	0.64015	0.0:0.0:0.8469:0.1531	.	244;267	O75818-2;O75818	.;RPP40_HUMAN	H	267;244;207	ENSP00000369391:P267H;ENSP00000317998:P244H;ENSP00000419431:P207H	ENSP00000317998:P244H	P	-	2	0	RPP40	4941277	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	7.629000	0.83207	1.118000	0.41863	0.655000	0.94253	CCT		0.383	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		25	45	1	0	3.28513e-13	1	4.1605e-13	25	45				
TAF9	6880	broad.mit.edu	37	5	68647899	68647899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68647899G>T	ENST00000380822.4	-	5	559	c.508C>A	c.(508-510)Cat>Aat	p.H170N	TAF9_ENST00000380818.3_Missense_Mutation_p.H167N|TAF9_ENST00000512561.1_Missense_Mutation_p.H139N|TAF9_ENST00000502819.1_5'UTR	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CAAGAGTTATGATCTTTGATC	0.358																																						ENST00000380822.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(508-510)Cat>Aat		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							66.0	61.0	62.0					5																	68647899		2203	4300	6503	SO:0001583	missense	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68647899G>T	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.508C>A	5.37:g.68647899G>T	ENSP00000370201:p.His170Asn					TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.H167N|TAF9_ENST00000512561.1_Missense_Mutation_p.H139N	p.H170N	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	5	559	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	170					D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000380822.4	37	c.508C>A	CCDS4001.1	.	.	.	.	.	.	.	.	.	.	G	0.352	-0.944084	0.02322	.	.	ENSG00000085231	ENST00000380822;ENST00000380818;ENST00000512561	.	.	.	5.37	2.21	0.28008	.	0.180937	0.45126	U	0.000395	T	0.19046	0.0457	N	0.05467	-0.045	0.24419	N	0.994623	B;B	0.10296	0.003;0.001	B;B	0.12156	0.007;0.002	T	0.24621	-1.0155	9	0.02654	T	1	-5.4554	12.7496	0.57300	0.0:0.0:0.3057:0.6943	.	167;170	Q9Y3D8-2;Q9Y3D8	.;KAD6_HUMAN	N	170;167;139	.	ENSP00000370197:H167N	H	-	1	0	TAF9	68683655	1.000000	0.71417	0.973000	0.42090	0.701000	0.40568	2.645000	0.46621	0.606000	0.29965	-0.538000	0.04264	CAT		0.358	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216793.1	NM_003187		8	41	1	0	0.0381472	1	0.0390147	8	41				
ARHGAP24	83478	broad.mit.edu	37	4	86921845	86921845	+	Silent	SNP	C	C	T	rs562074196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:86921845C>T	ENST00000395184.1	+	10	2683	c.2217C>T	c.(2215-2217)acC>acT	p.T739T	ARHGAP24_ENST00000264343.4_Silent_p.T646T|RP13-514E23.2_ENST00000610225.1_RNA|ARHGAP24_ENST00000395183.2_Silent_p.T644T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	739					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCAGGAGAACCGAGAGAGGAA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17645	0.001		0.0	False		,,,				2504	0.0					ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(2215-2217)acC>acT		Rho GTPase activating protein 24							55.0	56.0	55.0					4																	86921845		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86921845C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.2217C>T	4.37:g.86921845C>T						ARHGAP24_ENST00000264343.4_Silent_p.T646T|ARHGAP24_ENST00000395183.2_Silent_p.T644T	p.T739T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	10	2683	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	739					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.2217C>T	CCDS34025.1																																																																																				0.473	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		3	18	0	0	0	1	0	3	18				
ZNF565	147929	broad.mit.edu	37	19	36673579	36673579	+	Missense_Mutation	SNP	C	C	T	rs375467058		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36673579C>T	ENST00000355114.5	-	5	2135	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	ZNF565_ENST00000304116.5_Missense_Mutation_p.R430H|ZNF565_ENST00000392173.2_Missense_Mutation_p.R430H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGTGAAACACGAATAAAGGC	0.428																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1408-1410)cGt>cAt		zinc finger protein 565		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	126.0	99.0	108.0		1289,1289	1.4	0.1	19		108	0,8600		0,0,4300	no	missense,missense	ZNF565	NM_001042474.1,NM_152477.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	430/500,430/500	36673579	1,13005	2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673579C>T	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1409G>A	19.37:g.36673579C>T	ENSP00000347234:p.Arg470His					ZNF565_ENST00000392173.2_Missense_Mutation_p.R430H|ZNF565_ENST00000304116.5_Missense_Mutation_p.R430H	p.R470H			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	2135	-	Esophageal squamous(110;0.162)		430					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1409G>A		.	.	.	.	.	.	.	.	.	.	c	1.104	-0.660150	0.03454	2.27E-4	0.0	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.07327	3.2;3.2;3.2	4.81	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37809	N	0.001925	T	0.02848	0.0085	N	0.11756	0.17	0.09310	N	1	B	0.29232	0.238	B	0.13407	0.009	T	0.42749	-0.9433	10	0.10902	T	0.67	.	3.8229	0.08843	0.3812:0.4621:0.0:0.1567	.	430	Q8N9K5	ZN565_HUMAN	H	430;430;470	ENSP00000376013:R430H;ENSP00000306869:R430H;ENSP00000347234:R470H	ENSP00000306869:R430H	R	-	2	0	ZNF565	41365419	0.000000	0.05858	0.135000	0.22099	0.003000	0.03518	-0.316000	0.08071	0.715000	0.32103	-0.187000	0.12897	CGT		0.428	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		24	29	0	0	0	1	0	24	29				
C14orf37	145407	broad.mit.edu	37	14	58605246	58605246	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58605246G>T	ENST00000267485.7	-	2	1025	c.831C>A	c.(829-831)tcC>tcA	p.S277S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	277						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGGTGTACTCGGAAGTTTCGA	0.552																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(829-831)tcC>tcA		chromosome 14 open reading frame 37							70.0	70.0	70.0					14																	58605246		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605246G>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.831C>A	14.37:g.58605246G>T						C14orf37_ENST00000334342.5_5'UTR	p.S277S	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	1025	-			277					A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.831C>A	CCDS32089.1																																																																																				0.552	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		29	34	1	0	9.80776e-20	1	1.28469e-19	29	34				
GOT1	2805	broad.mit.edu	37	10	101163503	101163503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101163503G>T	ENST00000370508.5	-	6	798	c.771C>A	c.(769-771)ttC>ttA	p.F257L	GOT1_ENST00000543866.1_Missense_Mutation_p.F236L	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	257					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	AGTTCTTGGAGAAGGACTGGG	0.552																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(769-771)ttC>ttA		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						80.0	77.0	78.0					10																	101163503		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101163503G>T	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.771C>A	10.37:g.101163503G>T	ENSP00000359539:p.Phe257Leu					GOT1_ENST00000543866.1_Missense_Mutation_p.F236L	p.F257L	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	6	798	-		Ovarian(717;0.028)|Colorectal(252;0.234)	257					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.771C>A	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548864	0.86127	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.26067	1.76;1.76	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.089614	0.85682	D	0.000000	T	0.47116	0.1428	M	0.86028	2.79	0.80722	D	1	D	0.62365	0.991	P	0.57283	0.817	T	0.52616	-0.8552	10	0.87932	D	0	-14.873	9.724	0.40320	0.1611:0.0:0.8389:0.0	.	257	P17174	AATC_HUMAN	L	257;210;236	ENSP00000359539:F257L;ENSP00000445578:F236L	ENSP00000359539:F257L	F	-	3	2	GOT1	101153493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.464000	0.53057	2.647000	0.89833	0.558000	0.71614	TTC		0.552	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		28	45	1	0	3.73988e-18	1	4.86822e-18	28	45				
CACNA1B	774	broad.mit.edu	37	9	141010080	141010080	+	Missense_Mutation	SNP	G	G	A	rs200511648		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:141010080G>A	ENST00000371372.1	+	42	5871	c.5726G>A	c.(5725-5727)cGg>cAg	p.R1909Q	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1910Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1907Q|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1103Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1908Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1909Q	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1909					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAGGAGCCCGGGTTTTCCTT	0.597																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3307-3309)cGg>cAg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						87.0	89.0	89.0					9																	141010080		1948	4135	6083	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141010080G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5726G>A	9.37:g.141010080G>A	ENSP00000360423:p.Arg1909Gln					CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1909Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1908Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1907Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1910Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1909Q	p.R1103Q			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	42	5877	+	all_cancers(76;0.166)		1909					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3308G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490073	0.44249	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.96745	-3.9;-3.9;-4.11;-3.89;-3.88;-3.88	5.03	5.03	0.67393	.	1.387990	0.04796	N	0.432516	D	0.92672	0.7671	L	0.34521	1.04	0.34419	D	0.697278	B;B	0.27559	0.181;0.094	B;B	0.24848	0.056;0.056	D	0.84998	0.0898	10	0.23891	T	0.37	.	6.0027	0.19529	0.2218:0.0:0.7782:0.0	.	1908;1907	B1AQK7;B1AQK6	.;.	Q	1909;1909;1103;1907;1908;1910	ENSP00000360423:R1909Q;ENSP00000277551:R1909Q;ENSP00000277549:R1103Q;ENSP00000360414:R1907Q;ENSP00000360408:R1908Q;ENSP00000360406:R1910Q	ENSP00000277549:R1103Q	R	+	2	0	CACNA1B	140129901	0.536000	0.26378	1.000000	0.80357	0.996000	0.88848	0.116000	0.15561	2.600000	0.87896	0.655000	0.94253	CGG		0.597	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		29	45	0	0	0	1	0	29	45				
HEPACAM	220296	broad.mit.edu	37	11	124793761	124793761	+	Silent	SNP	C	C	T	rs538960313		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124793761C>T	ENST00000298251.4	-	3	978	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGAGCATTCTCGAGTCATTGA	0.582																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(571-573)tcG>tcA		hepatic and glial cell adhesion molecule							128.0	91.0	104.0					11																	124793761		2201	4299	6500	SO:0001819	synonymous_variant	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793761C>T	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.573G>A	11.37:g.124793761C>T							p.S191S	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	978	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	191			Ig-like C2-type.			Silent	SNP	ENST00000298251.4	37	c.573G>A	CCDS8456.1																																																																																				0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		9	20	0	0	0	1	0	9	20				
FBXO10	26267	broad.mit.edu	37	9	37518375	37518375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37518375G>A	ENST00000432825.2	-	9	2309	c.2261C>T	c.(2260-2262)gCg>gTg	p.A754V	FBXO10_ENST00000541829.1_Missense_Mutation_p.A279V|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	754					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTCCCCATTCGCGTGGATCAC	0.587																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2260-2262)gCg>gTg		F-box protein 10							69.0	76.0	74.0					9																	37518375		2144	4247	6391	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518375G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2261C>T	9.37:g.37518375G>A	ENSP00000403802:p.Ala754Val					RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.A279V	p.A754V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2309	-			754					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2261C>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643042	0.87859	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80653	-1.4;-1.4	5.36	5.36	0.76844	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.110324	0.64402	D	0.000009	T	0.81626	0.4862	N	0.24115	0.695	0.48571	D	0.999673	D;D;D	0.71674	0.998;0.995;0.995	P;P;P	0.58331	0.837;0.828;0.828	D	0.84382	0.0550	10	0.72032	D	0.01	-5.867	17.8837	0.88848	0.0:0.0:1.0:0.0	.	633;279;754	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	V	754;279	ENSP00000403802:A754V;ENSP00000441307:A279V	ENSP00000403802:A754V	A	-	2	0	FBXO10	37508375	1.000000	0.71417	0.225000	0.23894	0.910000	0.53928	5.263000	0.65507	2.496000	0.84212	0.563000	0.77884	GCG		0.587	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			12	20	0	0	0	1	0	12	20				
MYO5B	4645	broad.mit.edu	37	18	47480773	47480773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47480773C>A	ENST00000285039.7	-	13	1877	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	526	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATAGAGCTTCTGAGCCCAGT	0.567																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1576-1578)caG>caT		myosin VB							79.0	86.0	84.0					18																	47480773		2015	4175	6190	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47480773C>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1578G>T	18.37:g.47480773C>A	ENSP00000285039:p.Gln526His						p.Q526H	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	13	1877	-			526			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1578G>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572702	0.65765	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.95518	-3.73	4.79	0.146	0.14833	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	M	0.86028	2.79	0.80722	D	1	P;B	0.48230	0.907;0.447	P;B	0.61874	0.895;0.166	D	0.96033	0.9018	10	0.72032	D	0.01	.	11.1526	0.48469	0.0:0.7292:0.0:0.2708	.	525;526	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	H	526;525	ENSP00000285039:Q526H	ENSP00000285039:Q526H	Q	-	3	2	MYO5B	45734771	0.921000	0.31238	0.998000	0.56505	0.996000	0.88848	0.085000	0.14912	0.046000	0.15833	0.462000	0.41574	CAG		0.567	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			11	31	1	0	2.27111e-07	1	2.66951e-07	11	31				
IBTK	25998	broad.mit.edu	37	6	82883084	82883084	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883084T>C	ENST00000306270.7	-	27	4346	c.3797A>G	c.(3796-3798)aAt>aGt	p.N1266S	IBTK_ENST00000510291.1_Splice_Site_p.N1251S|IBTK_ENST00000503631.1_Splice_Site_p.N1065S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1266					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTAACCTTACTTGGGACTGTC	0.423																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.e27+1		inhibitor of Bruton agammaglobulinemia tyrosine kinase							121.0	122.0	121.0					6																	82883084		2203	4300	6503	SO:0001630	splice_region_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82883084T>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3797+1A>G	6.37:g.82883084T>C						IBTK_ENST00000510291.1_Splice_Site_p.N1251_splice|IBTK_ENST00000503631.1_Splice_Site_p.N1065_splice	p.N1266_splice	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	27	4346	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	1266					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	ENST00000306270.7	37	c.3797_splice	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667437	0.47677	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.33216	1.75;1.42;1.75	5.71	5.71	0.89125	.	0.180732	0.50627	D	0.000103	T	0.19406	0.0466	M	0.62723	1.935	0.43959	D	0.996637	B;B;P;B	0.35628	0.342;0.001;0.513;0.001	B;B;B;B	0.34873	0.039;0.003;0.191;0.003	T	0.03175	-1.1064	9	.	.	.	-29.0326	13.72	0.62720	0.0:0.0:0.0:1.0	.	1065;1251;217;1266	E9PDR5;E7EPI0;B3KX60;Q9P2D0	.;.;.;IBTK_HUMAN	S	1266;1065;1251	ENSP00000305721:N1266S;ENSP00000422762:N1065S;ENSP00000426405:N1251S	.	N	-	2	0	IBTK	82939803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.768000	0.62293	2.182000	0.69389	0.460000	0.39030	AAT		0.423	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	Missense_Mutation	16	49	0	0	0	1	0	16	49				
HNRNPU	3192	broad.mit.edu	37	1	245027151	245027151	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245027151G>A	ENST00000283179.9	-	1	622	c.459C>T	c.(457-459)ggC>ggT	p.G153G	HNRNPU_ENST00000444376.2_Silent_p.G153G|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	153	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G153G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGTTCTCGTCGCCCGCGCCTT	0.692																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			2	Substitution - coding silent(2)	p.G153G(2)	lung(2)	NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(457-459)ggC>ggT		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							20.0	21.0	21.0					1																	245027151		2199	4293	6492	SO:0001819	synonymous_variant	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245027151G>A	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.459C>T	1.37:g.245027151G>A						HNRNPU_ENST00000283179.9_Silent_p.G153G	p.G153G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		1	693	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		153			Asp/Glu-rich (acidic).		O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	c.459C>T	CCDS41479.1																																																																																				0.692	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		3	15	0	0	0	1	0	3	15				
STON1	11037	broad.mit.edu	37	2	48808411	48808411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48808411G>A	ENST00000406226.1	+	3	834	c.639G>A	c.(637-639)gaG>gaA	p.E213E	STON1-GTF2A1L_ENST00000402114.2_Silent_p.E213E|STON1_ENST00000309835.3_Silent_p.E213E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E213E|STON1_ENST00000404752.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394754.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000405008.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E213E	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	213					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACAAGGAGATGCCTATTG	0.408																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(637-639)gaG>gaA		stonin 1							82.0	76.0	78.0					2																	48808411		2203	4300	6503	SO:0001819	synonymous_variant	11037							g.chr2:48808411G>A	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.639G>A	2.37:g.48808411G>A						STON1-GTF2A1L_ENST00000405008.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394754.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E213E|STON1_ENST00000404752.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E213E|STON1-GTF2A1L_ENST00000402114.2_Silent_p.E213E|STON1_ENST00000406226.1_Silent_p.E213E	p.E213E					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	649	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.639G>A	CCDS1841.1																																																																																				0.408	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		23	36	0	0	0	1	0	23	36				
TANC2	26115	broad.mit.edu	37	17	61498942	61498942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498942A>G	ENST00000424789.2	+	25	5603	c.5599A>G	c.(5599-5601)Acc>Gcc	p.T1867A	TANC2_ENST00000389520.4_Missense_Mutation_p.T1877A|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1867					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGAATCGGACCTGGGCAGT	0.577																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5599-5601)Acc>Gcc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							114.0	120.0	118.0					17																	61498942		2161	4259	6420	SO:0001583	missense	26115						binding	g.chr17:61498942A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5599A>G	17.37:g.61498942A>G	ENSP00000387593:p.Thr1867Ala					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.T1877A	p.T1867A	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5603	+			1867					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.5599A>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285203	0.23478	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66099	-0.19;-0.19	5.74	5.74	0.90152	.	0.060126	0.64402	D	0.000002	T	0.38241	0.1033	N	0.03608	-0.345	0.37845	D	0.929192	B	0.06786	0.001	B	0.04013	0.001	T	0.38757	-0.9646	10	0.48119	T	0.1	.	10.6468	0.45626	0.9286:0.0:0.0714:0.0	.	1867	Q9HCD6	TANC2_HUMAN	A	1877;1867	ENSP00000374171:T1877A;ENSP00000387593:T1867A	ENSP00000374171:T1877A	T	+	1	0	TANC2	58852674	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.328000	0.52052	2.317000	0.78254	0.459000	0.35465	ACC		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			5	56	0	0	0	1	0	5	56				
ZBTB39	9880	broad.mit.edu	37	12	57398141	57398141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57398141C>A	ENST00000300101.2	-	2	646	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGCAACATTCTTCTCTTCCT	0.552																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(559-561)aaG>aaT		zinc finger and BTB domain containing 39							147.0	140.0	142.0					12																	57398141		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398141C>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.561G>T	12.37:g.57398141C>A	ENSP00000300101:p.Lys187Asn						p.K187N	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	646	-			187					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.561G>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	7.450	0.642490	0.14451	.	.	ENSG00000166860	ENST00000300101	T	0.08370	3.1	5.21	1.99	0.26369	.	0.260319	0.38272	N	0.001754	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.18263	0.021	T	0.39800	-0.9596	10	0.36615	T	0.2	-7.3712	6.6179	0.22786	0.0:0.3557:0.0:0.6443	.	187	O15060	ZBT39_HUMAN	N	187	ENSP00000300101:K187N	ENSP00000300101:K187N	K	-	3	2	ZBTB39	55684408	0.790000	0.28787	0.532000	0.27989	0.971000	0.66376	0.534000	0.23098	0.307000	0.22880	0.655000	0.94253	AAG		0.552	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		43	81	1	0	6.21074e-16	1	7.99102e-16	43	81				
GNL3	26354	broad.mit.edu	37	3	52724697	52724697	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724697A>C	ENST00000418458.1	+	7	804	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	SNORD19_ENST00000410413.1_RNA|SNORD19_ENST00000391191.1_RNA|SNORD19B_ENST00000516978.1_RNA|SNORD19B_ENST00000459623.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.K199Q|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	211	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAAAACCAAAGGATAAAGG	0.353																																						ENST00000394799.2																			0				breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12						c.(595-597)Aag>Cag		guanine nucleotide binding protein-like 3 (nucleolar)							146.0	163.0	157.0					3																	52724697		2203	4300	6503	SO:0001583	missense	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52724697A>C	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.631A>C	3.37:g.52724697A>C	ENSP00000395772:p.Lys211Gln					GNL3_ENST00000418458.1_Missense_Mutation_p.K211Q	p.K199Q	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	7	805	+			211					B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	ENST00000418458.1	37	c.595A>C	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	A	9.373	1.071064	0.20147	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.13307	2.6;2.6	5.87	4.7	0.59300	.	0.308788	0.38778	N	0.001579	T	0.05731	0.0150	N	0.11651	0.15	0.38473	D	0.947511	B	0.11235	0.004	B	0.10450	0.005	T	0.20940	-1.0260	10	0.02654	T	1	.	8.4471	0.32849	0.7988:0.1326:0.0687:0.0	.	211	Q9BVP2	GNL3_HUMAN	Q	211;199	ENSP00000395772:K211Q;ENSP00000378278:K199Q	ENSP00000378278:K199Q	K	+	1	0	GNL3	52699737	0.079000	0.21365	0.467000	0.27180	0.075000	0.17131	2.920000	0.48844	2.371000	0.80710	0.533000	0.62120	AAG		0.353	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		20	193	0	0	0	1	0	20	193				
PLEKHA7	144100	broad.mit.edu	37	11	16838749	16838749	+	Silent	SNP	G	G	A	rs200156418		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16838749G>A	ENST00000355661.3	-	11	1474	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PLEKHA7_ENST00000531066.1_Silent_p.P488P|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.P488P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	488					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCAGGTTTCGGGGAGGTGGCG	0.637																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1462-1464)ccC>ccT		pleckstrin homology domain containing, family A member 7							62.0	71.0	68.0					11																	16838749		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838749G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1464C>T	11.37:g.16838749G>A						PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.P488P|PLEKHA7_ENST00000531066.1_Silent_p.P488P	p.P488P			Q6IQ23	PKHA7_HUMAN			11	1474	-			488					B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.1464C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.866106	0.17250	.	.	ENSG00000166689	ENST00000530489	T	0.24538	1.85	4.97	0.642	0.17765	.	0.162636	0.56097	D	0.000035	T	0.26774	0.0655	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.04946	-1.0916	7	0.54805	T	0.06	-18.2442	2.8701	0.05614	0.2157:0.1223:0.5363:0.1257	.	.	.	.	L	119	ENSP00000433467:P119L	ENSP00000433467:P119L	P	-	2	0	PLEKHA7	16795325	0.981000	0.34729	0.998000	0.56505	0.911000	0.54048	0.069000	0.14552	0.142000	0.18901	0.462000	0.41574	CCC		0.637	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		34	65	0	0	0	1	0	34	65				
NEB	4703	broad.mit.edu	37	2	152410491	152410491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152410491C>T	ENST00000172853.10	-	98	14521	c.14374G>A	c.(14374-14376)Gtg>Atg	p.V4792M	NEB_ENST00000409198.1_Missense_Mutation_p.V4792M|NEB_ENST00000604864.1_Missense_Mutation_p.V6493M|NEB_ENST00000603639.1_Missense_Mutation_p.V6493M|NEB_ENST00000427231.2_Missense_Mutation_p.V6493M|NEB_ENST00000397345.3_Missense_Mutation_p.V6493M			P20929	NEBU_HUMAN	nebulin	4792					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCGGGCACGATGTGGATT	0.458																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(19477-19479)Gtg>Atg		nebulin							187.0	180.0	182.0					2																	152410491		1945	4139	6084	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152410491C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14374G>A	2.37:g.152410491C>T	ENSP00000172853:p.Val4792Met					NEB_ENST00000409198.1_Missense_Mutation_p.V4792M|NEB_ENST00000397345.3_Missense_Mutation_p.V6493M|NEB_ENST00000603639.1_Missense_Mutation_p.V6493M|NEB_ENST00000604864.1_Missense_Mutation_p.V6493M|NEB_ENST00000172853.10_Missense_Mutation_p.V4792M	p.V6493M	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	126	19679	-			4792			Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.19477G>A		.	.	.	.	.	.	.	.	.	.	C	17.77	3.470435	0.63625	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.48	5.48	0.80851	.	0.200203	0.44097	D	0.000489	T	0.48223	0.1488	L	0.46157	1.445	0.80722	D	1	B;D	0.89917	0.089;1.0	B;D	0.80764	0.02;0.994	T	0.35724	-0.9777	10	0.48119	T	0.1	.	14.6251	0.68616	0.0:0.9285:0.0:0.0715	.	4792;1223	P20929;Q14215	NEBU_HUMAN;.	M	4792;6493;6493;841;1223;4792	ENSP00000386259:V4792M;ENSP00000380505:V6493M;ENSP00000416578:V6493M;ENSP00000410961:V1223M;ENSP00000172853:V4792M	ENSP00000172853:V4792M	V	-	1	0	NEB	152118737	0.710000	0.27896	0.945000	0.38365	0.744000	0.42396	1.329000	0.33770	2.572000	0.86782	0.655000	0.94253	GTG		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		40	88	0	0	0	1	0	40	88				
USP8	9101	broad.mit.edu	37	15	50784986	50784986	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50784986G>A	ENST00000396444.3	+	15	2661	c.2323G>A	c.(2323-2325)Gct>Act	p.A775T	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Missense_Mutation_p.A775T|USP8_ENST00000425032.3_Missense_Mutation_p.A669T|USP8_ENST00000307179.4_Missense_Mutation_p.A775T	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	775					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGGACCAGCTCTTACTGG	0.413																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2323-2325)Gct>Act		ubiquitin specific peptidase 8							128.0	114.0	119.0					15																	50784986		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50784986G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2323G>A	15.37:g.50784986G>A	ENSP00000379721:p.Ala775Thr					USP8_ENST00000307179.4_Missense_Mutation_p.A775T|USP8_ENST00000425032.3_Missense_Mutation_p.A669T|USP8_ENST00000396444.3_Missense_Mutation_p.A775T	p.A775T	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	16	2823	+			775					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2323G>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286687	0.80803	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.22	5.22	0.72569	.	0.053938	0.85682	D	0.000000	T	0.35770	0.0943	N	0.19112	0.55	0.46542	D	0.999092	D;D	0.52996	0.957;0.957	P;P	0.53722	0.733;0.733	T	0.24584	-1.0156	10	0.72032	D	0.01	-16.4332	19.1453	0.93463	0.0:0.0:1.0:0.0	.	669;775	B4DKA8;P40818	.;UBP8_HUMAN	T	775;775;775;669	ENSP00000379721:A775T;ENSP00000405537:A775T;ENSP00000302239:A775T;ENSP00000412682:A669T	ENSP00000302239:A775T	A	+	1	0	USP8	48572278	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.558000	0.67319	2.593000	0.87608	0.650000	0.86243	GCT		0.413	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		8	107	0	0	0	1	0	8	107				
GYG2	8908	broad.mit.edu	37	X	2779761	2779761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2779761G>T	ENST00000381163.3	+	9	1411	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	GYG2_ENST00000338623.5_Missense_Mutation_p.D377Y|GYG2_ENST00000542787.1_Missense_Mutation_p.D377Y|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.D346Y	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	377					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGTTCAGAAGATGTAAGTAC	0.582																																						ENST00000381163.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1129-1131)Gat>Tat		glycogenin 2							36.0	27.0	30.0					X																	2779761		2201	4290	6491	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2779761G>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1129G>T	X.37:g.2779761G>T	ENSP00000370555:p.Asp377Tyr					GYG2_ENST00000542787.1_Missense_Mutation_p.D377Y|GYG2_ENST00000338623.5_Missense_Mutation_p.D377Y|GYG2_ENST00000398806.3_Missense_Mutation_p.D346Y|GYG2_ENST00000381161.1_3'UTR	p.D377Y	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN			9	1411	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	377					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.1129G>T	CCDS14121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.34|11.34	1.608656|1.608656	0.28623|0.28623	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787|ENST00000381157	T;T;T;T|.	0.49139|.	0.79;1.1;0.93;1.19|.	2.02|2.02	2.02|2.02	0.26589|0.26589	.|.	.|.	.|.	.|.	.|.	T|T	0.24774|0.24774	0.0601|0.0601	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P;P;P;P|.	0.50443|.	0.571;0.935;0.763;0.454;0.514;0.61|.	B;B;B;B;B;B|.	0.41332|.	0.238;0.311;0.354;0.191;0.351;0.28|.	T|T	0.20840|0.20840	-1.0263|-1.0263	9|5	0.51188|.	T|.	0.08|.	.|.	7.1606|7.1606	0.25662|0.25662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	377;377;337;346;346;377|.	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488|.	.;.;.;.;.;GLYG2_HUMAN|.	Y|I	346;377;377;377|195	ENSP00000381786:D346Y;ENSP00000370555:D377Y;ENSP00000341273:D377Y;ENSP00000446092:D377Y|.	ENSP00000341273:D377Y|.	D|R	+|+	1|2	0|0	GYG2|GYG2	2789761|2789761	0.896000|0.896000	0.30565|0.30565	0.003000|0.003000	0.11579|0.11579	0.006000|0.006000	0.05464|0.05464	2.574000|2.574000	0.46016|0.46016	1.053000|1.053000	0.40415|0.40415	0.529000|0.529000	0.55759|0.55759	GAT|AGA		0.582	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		6	6	1	0	0.248553	1	0.25002	6	6				
SLC10A7	84068	broad.mit.edu	37	4	147215246	147215246	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147215246A>G	ENST00000507030.1	-	8	556	c.557T>C	c.(556-558)aTt>aCt	p.I186T	SLC10A7_ENST00000432059.2_Splice_Site_p.I173T|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Splice_Site_p.I186T|SLC10A7_ENST00000335472.7_Splice_Site_p.I186T			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	186					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCTTCGGACAATCTGAAATAC	0.423																																						ENST00000432059.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16						c.e7-1		solute carrier family 10, member 7							75.0	67.0	70.0					4																	147215246		2203	4300	6503	SO:0001630	splice_region_variant	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147215246A>G	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.556-1T>C	4.37:g.147215246A>G						SLC10A7_ENST00000394062.3_Splice_Site_p.I186_splice|SLC10A7_ENST00000335472.7_Splice_Site_p.I186_splice|SLC10A7_ENST00000507030.1_Splice_Site_p.I186_splice|SLC10A7_ENST00000264986.3_3'UTR	p.I173_splice			Q0GE19	NTCP7_HUMAN			7	764	-	all_hematologic(180;0.151)		186					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Splice_Site	SNP	ENST00000507030.1	37	c.516_splice	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562252	0.45694	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062	.	.	.	5.98	4.79	0.61399	.	0.099589	0.64402	D	0.000002	T	0.61949	0.2388	L	0.54323	1.7	0.80722	D	1	P;P;P	0.47762	0.835;0.863;0.9	B;P;B	0.49301	0.311;0.606;0.394	T	0.65142	-0.6240	9	0.87932	D	0	-6.9861	13.4536	0.61184	0.8692:0.1308:0.0:0.0	.	173;186;186	Q0GE19-3;Q0GE19;Q0GE19-2	.;NTCP7_HUMAN;.	T	173;186;186;186	.	ENSP00000334594:I186T	I	-	2	0	SLC10A7	147434696	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	7.063000	0.76714	1.059000	0.40554	0.528000	0.53228	ATT		0.423	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128	Missense_Mutation	5	36	0	0	0	1	0	5	36				
MTM1	4534	broad.mit.edu	37	X	149809827	149809827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149809827C>T	ENST00000370396.2	+	8	668	c.614C>T	c.(613-615)cCg>cTg	p.P205L	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.P90L|MTM1_ENST00000413012.2_Missense_Mutation_p.P168L|MTM1_ENST00000542741.1_Missense_Mutation_p.P110L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	205	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		P -> L (in CNMX; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES). {ECO:0000269|PubMed:10063835, ECO:0000269|PubMed:11793470, ECO:0000269|PubMed:12522554, ECO:0000269|PubMed:9305655}.		endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTCCGTATCGTGCC	0.438																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CM960998	MTM1	M		c.(613-615)cCg>cTg		myotubularin 1							185.0	164.0	171.0					X																	149809827		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149809827C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.614C>T	X.37:g.149809827C>T	ENSP00000359423:p.Pro205Leu					MTM1_ENST00000542741.1_Missense_Mutation_p.P110L|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.P168L|MTM1_ENST00000543350.1_Missense_Mutation_p.P90L	p.P205L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			8	668	+	Acute lymphoblastic leukemia(192;6.56e-05)		205		P -> L (in XCNM; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES).	Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.614C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607903	0.87258	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.99080	-5.4;-5.4;-5.4;-5.4	5.42	5.42	0.78866	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.049414	0.85682	D	0.000000	D	0.99619	0.9861	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.978;1.0	D	0.97582	1.0111	10	0.87932	D	0	.	18.5966	0.91231	0.0:1.0:0.0:0.0	.	168;205	B7Z491;Q13496	.;MTM1_HUMAN	L	205;110;90;168	ENSP00000359423:P205L;ENSP00000444015:P110L;ENSP00000439784:P90L;ENSP00000389157:P168L	ENSP00000359423:P205L	P	+	2	0	MTM1	149560485	1.000000	0.71417	0.942000	0.38095	0.938000	0.57974	7.407000	0.80029	2.422000	0.82143	0.519000	0.50382	CCG		0.438	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		46	80	0	0	0	1	0	46	80				
QPCT	25797	broad.mit.edu	37	2	37594504	37594504	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37594504A>G	ENST00000338415.3	+	4	834	c.676A>G	c.(676-678)Acc>Gcc	p.T226A	QPCT_ENST00000537448.1_Missense_Mutation_p.T177A	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	226					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				GATGGCATCGACCCCGCACCC	0.532																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(676-678)Acc>Gcc		glutaminyl-peptide cyclotransferase							81.0	76.0	78.0					2																	37594504		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37594504A>G	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.676A>G	2.37:g.37594504A>G	ENSP00000344829:p.Thr226Ala					QPCT_ENST00000537448.1_Missense_Mutation_p.T177A	p.T226A	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			4	834	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	226					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.676A>G	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.567725	0.28003	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.19394	2.15;2.15;2.15	5.4	5.4	0.78164	Peptidase M28 (1);	0.094464	0.64402	D	0.000001	T	0.24509	0.0594	L	0.52364	1.645	0.30489	N	0.771554	B;B	0.15719	0.011;0.014	B;B	0.25405	0.051;0.06	T	0.11324	-1.0592	10	0.48119	T	0.1	-18.1311	15.4301	0.75087	1.0:0.0:0.0:0.0	.	177;226	Q16769-2;Q16769	.;QPCT_HUMAN	A	226;177;177	ENSP00000344829:T226A;ENSP00000385391:T177A;ENSP00000441606:T177A	ENSP00000344829:T226A	T	+	1	0	QPCT	37448008	1.000000	0.71417	0.617000	0.29091	0.656000	0.38851	6.207000	0.72159	2.048000	0.60808	0.459000	0.35465	ACC		0.532	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			13	54	0	0	0	1	0	13	54				
MYO7A	4647	broad.mit.edu	37	11	76869430	76869430	+	Silent	SNP	G	G	A	rs577833842		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76869430G>A	ENST00000409709.3	+	9	1229	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MYO7A_ENST00000409619.2_Silent_p.S308S|MYO7A_ENST00000458637.2_Silent_p.S319S|MYO7A_ENST00000409893.1_Silent_p.S319S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	319	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGAGATCTCGAAGCTCCTGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20059	0.001		0.0	False		,,,				2504	0.0					ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(955-957)tcG>tcA		myosin VIIA							46.0	52.0	50.0					11																	76869430		2159	4256	6415	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76869430G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.957G>A	11.37:g.76869430G>A						MYO7A_ENST00000409893.1_Silent_p.S319S|MYO7A_ENST00000409619.2_Silent_p.S308S|MYO7A_ENST00000458637.2_Silent_p.S319S	p.S319S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			9	1229	+			319			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.957G>A	CCDS53683.1																																																																																				0.632	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	26	0	0	0	1	0	8	26				
DNAJB5	25822	broad.mit.edu	37	9	34996467	34996467	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996467C>T	ENST00000541010.1	+	2	3429	c.417C>T	c.(415-417)ggC>ggT	p.G139G	DNAJB5_ENST00000454002.2_Silent_p.G211G|DNAJB5_ENST00000453597.3_Silent_p.G253G|DNAJB5_ENST00000312316.5_Silent_p.G139G|DNAJB5_ENST00000335998.3_Silent_p.G173G|DNAJB5_ENST00000545841.1_Silent_p.G139G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	139					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)			ACCCATTTGGCGCTTTCGGCC	0.592																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(415-417)ggC>ggT		DnaJ (Hsp40) homolog, subfamily B, member 5							75.0	74.0	74.0					9																	34996467		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996467C>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.417C>T	9.37:g.34996467C>T						DNAJB5_ENST00000545841.1_Silent_p.G139G|DNAJB5_ENST00000453597.3_Silent_p.G253G|DNAJB5_ENST00000335998.3_Silent_p.G173G|DNAJB5_ENST00000312316.5_Silent_p.G139G|DNAJB5_ENST00000454002.2_Silent_p.G211G	p.G139G			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	3429	+			139					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.417C>T	CCDS35007.1																																																																																				0.592	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			19	19	0	0	0	1	0	19	19				
GPATCH8	23131	broad.mit.edu	37	17	42477443	42477443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42477443G>A	ENST00000591680.1	-	8	2032	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.R590*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	668	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCCAGATCGTTCTTTCTTG	0.498																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1768-1770)Cga>Tga		G patch domain containing 8							103.0	104.0	104.0					17																	42477443		2203	4300	6503	SO:0001587	stop_gained	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477443G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2002C>T	17.37:g.42477443G>A	ENSP00000467556:p.Arg668*					GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R668*	p.R590*			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2050	-		Prostate(33;0.0181)	668					B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	ENST00000591680.1	37	c.1768C>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234349	0.95207	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.11	5.11	0.69529	.	0.786709	0.11699	N	0.538162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-3.1355	11.7134	0.51639	0.0:0.1779:0.8221:0.0	.	.	.	.	X	668;590	.	ENSP00000335486:R668X	R	-	1	2	GPATCH8	39832969	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.566000	0.45948	2.669000	0.90835	0.491000	0.48974	CGA		0.498	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		47	85	0	0	0	1	0	47	85				
DDX24	57062	broad.mit.edu	37	14	94545559	94545559	+	Missense_Mutation	SNP	G	G	A	rs145620061		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94545559G>A	ENST00000330836.5	-	2	661	c.530C>T	c.(529-531)gCg>gTg	p.A177V	IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.A134V|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	177					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCATGTCTTCGCTTTTTTGGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		21364	0.001		0.0	False		,,,				2504	0.0					ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(529-531)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box helicase 24		G	VAL/ALA	0,4406		0,0,2203	111.0	103.0	106.0		530	1.6	0.1	14	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX24	NM_020414.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	177/860	94545559	1,13005	2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545559G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.530C>T	14.37:g.94545559G>A	ENSP00000328690:p.Ala177Val					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.A134V	p.A177V	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	661	-		all_cancers(154;0.12)	177					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.530C>T	CCDS9918.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.848	-0.465869	0.04476	0.0	1.16E-4	ENSG00000089737	ENST00000330836;ENST00000555054;ENST00000542247	T;T	0.03272	3.99;4.0	5.9	1.58	0.23477	.	0.951754	0.08894	N	0.878316	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.30855	0.121	T	0.50013	-0.8877	10	0.22706	T	0.39	-14.4502	9.2508	0.37554	0.254:0.1129:0.6331:0.0	.	177	Q9GZR7	DDX24_HUMAN	V	177;134;134	ENSP00000328690:A177V;ENSP00000452145:A134V	ENSP00000328690:A177V	A	-	2	0	DDX24	93615312	0.156000	0.22821	0.068000	0.19968	0.049000	0.14656	1.349000	0.33998	0.421000	0.25980	-0.813000	0.03139	GCG		0.468	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		25	30	0	0	0	1	0	25	30				
CSMD2	114784	broad.mit.edu	37	1	34090742	34090742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34090742G>A	ENST00000373380.1	-	13	2248	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	CSMD2_ENST00000373381.4_Silent_p.S1803S|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1763	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1763S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGCATAGCCGGAGTTGCATT	0.647																																						ENST00000373381.4																			1	Substitution - coding silent(1)	p.S1763S(1)	large_intestine(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5407-5409)tcC>tcT		CUB and Sushi multiple domains 2							79.0	72.0	74.0					1																	34090742		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34090742G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2028C>T	1.37:g.34090742G>A						CSMD2_ENST00000373380.1_Silent_p.S676S|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	p.S1803S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			34	5585	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1763			CUB 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5409C>T																																																																																					0.647	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		20	35	0	0	0	1	0	20	35				
INTS3	65123	broad.mit.edu	37	1	153730127	153730127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153730127G>A	ENST00000318967.2	+	10	1605	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R346H|INTS3_ENST00000512605.1_Missense_Mutation_p.R140H|INTS3_ENST00000456435.1_Missense_Mutation_p.R140H	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	347					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.R346H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCTCTGCGCTGTGACCTC	0.517																																						ENST00000456435.1																			1	Substitution - Missense(1)	p.R346H(1)	endometrium(1)	breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(418-420)cGc>cAc		integrator complex subunit 3							184.0	156.0	166.0					1																	153730127		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153730127G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1037G>A	1.37:g.153730127G>A	ENSP00000318641:p.Arg346His					INTS3_ENST00000512605.1_Missense_Mutation_p.R140H|INTS3_ENST00000318967.2_Missense_Mutation_p.R346H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R346H	p.R140H			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1605	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		347					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.419G>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048801	0.93740	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.991;0.995;0.991	T	0.79610	-0.1732	9	0.87932	D	0	.	15.2588	0.73606	0.0:0.0:1.0:0.0	.	140;347;346	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	346;140;346;140	.	ENSP00000318641:R346H	R	+	2	0	INTS3	151996751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.639000	0.91023	2.463000	0.83235	0.455000	0.32223	CGC		0.517	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		56	56	0	0	0	1	0	56	56				
TPR	7175	broad.mit.edu	37	1	186332042	186332042	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186332042A>C	ENST00000367478.4	-	6	919	c.623T>G	c.(622-624)cTt>cGt	p.L208R	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	208					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGAGCCAGAAGTTCATCAGT	0.328			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(622-624)cTt>cGt		translocated promoter region, nuclear basket protein							88.0	80.0	82.0					1																	186332042		1817	4071	5888	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186332042A>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.623T>G	1.37:g.186332042A>C	ENSP00000356448:p.Leu208Arg					TPR_ENST00000474852.1_5'UTR	p.L208R	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	6	919	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	208					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.623T>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548599	0.86127	.	.	ENSG00000047410	ENST00000367478	T	0.32515	1.45	5.53	5.53	0.82687	.	0.067460	0.64402	D	0.000010	T	0.57770	0.2076	M	0.78637	2.42	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.61317	-0.7087	10	0.56958	D	0.05	.	15.9523	0.79850	1.0:0.0:0.0:0.0	.	208;208	Q15624;P12270	.;TPR_HUMAN	R	208	ENSP00000356448:L208R	ENSP00000356448:L208R	L	-	2	0	TPR	184598665	1.000000	0.71417	0.949000	0.38748	0.984000	0.73092	8.858000	0.92256	2.226000	0.72624	0.533000	0.62120	CTT		0.328	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		24	24	0	0	0	1	0	24	24				
CCDC38	120935	broad.mit.edu	37	12	96273469	96273469	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96273469T>C	ENST00000344280.3	-	12	1652	c.1095A>G	c.(1093-1095)gaA>gaG	p.E365E	SNRPF_ENST00000552085.1_Missense_Mutation_p.F45L|SNRPF_ENST00000553192.1_Missense_Mutation_p.F45L	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	365										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTCAAGATTTTCATCTACAT	0.338																																						ENST00000552085.1																			0				kidney(1)|lung(1)	2						c.(133-135)Ttc>Ctc		small nuclear ribonucleoprotein polypeptide F							153.0	155.0	154.0					12																	96273469		2203	4300	6503	SO:0001819	synonymous_variant	6636				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr12:96273469T>C	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.1095A>G	12.37:g.96273469T>C						SNRPF_ENST00000553192.1_Missense_Mutation_p.F45L|CCDC38_ENST00000344280.3_Silent_p.E365E	p.F45L			P62306	RUXF_HUMAN			3	238	+			45					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.133T>C	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	T	7.291	0.611155	0.14066	.	.	ENSG00000139343	ENST00000553192;ENST00000552085	T	0.29655	1.56	6.03	1.03	0.20045	.	.	.	.	.	T	0.21468	0.0517	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07809	-1.0753	6	0.17369	T	0.5	-39.0696	4.6983	0.12815	0.1312:0.2934:0.0:0.5754	.	.	.	.	L	45	ENSP00000447127:F45L	ENSP00000447127:F45L	F	+	1	0	SNRPF	94797600	1.000000	0.71417	0.995000	0.50966	0.748000	0.42578	0.983000	0.29552	-0.053000	0.13289	-0.421000	0.06004	TTC		0.338	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		7	141	0	0	0	1	0	7	141				
PLCE1	51196	broad.mit.edu	37	10	96005763	96005763	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96005763C>T	ENST00000371380.3	+	7	2716	c.2481C>T	c.(2479-2481)taC>taT	p.Y827Y	PLCE1_ENST00000260766.3_Silent_p.Y827Y|PLCE1_ENST00000371385.3_Silent_p.Y519Y|PLCE1_ENST00000371375.1_Silent_p.Y519Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	827					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCAAAGAATACGACTCTCATG	0.443																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2479-2481)taC>taT		phospholipase C, epsilon 1							90.0	90.0	90.0					10																	96005763		1994	4180	6174	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005763C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2481C>T	10.37:g.96005763C>T						PLCE1_ENST00000371380.2_Silent_p.Y827Y|PLCE1_ENST00000371375.1_Silent_p.Y519Y|PLCE1_ENST00000371385.3_Silent_p.Y519Y	p.Y827Y	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			8	3115	+		Colorectal(252;0.0458)	827					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.2481C>T	CCDS41552.1																																																																																				0.443	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		27	53	0	0	0	1	0	27	53				
XRCC6	2547	broad.mit.edu	37	22	42046725	42046725	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42046725A>G	ENST00000359308.4	+	7	1615		c.e7-1		XRCC6_ENST00000405506.1_Splice_Site|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000405878.1_Splice_Site|XRCC6_ENST00000402580.3_Splice_Site|XRCC6_ENST00000428575.2_Splice_Site|XRCC6_ENST00000360079.3_Splice_Site			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6						brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CTTCTCCTTCAGATCTATGGG	0.423								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.e7-1	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							98.0	89.0	92.0					22																	42046725		2203	4300	6503	SO:0001630	splice_region_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42046725A>G	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.961-1A>G	22.37:g.42046725A>G						XRCC6_ENST00000405878.1_Splice_Site|XRCC6_ENST00000405506.1_Splice_Site|XRCC6_ENST00000360079.3_Splice_Site|XRCC6_ENST00000428575.2_Splice_Site|XRCC6_ENST00000402580.3_Splice_Site				P12956	XRCC6_HUMAN			7	1615	+								B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Splice_Site	SNP	ENST00000359308.4	37		CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995285	0.54147	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9783	0.71293	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XRCC6	40376671	1.000000	0.71417	0.078000	0.20375	0.082000	0.17680	8.360000	0.90095	1.987000	0.57996	0.528000	0.53228	.		0.423	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469	Intron	5	69	0	0	0	1	0	5	69				
BCORL1	63035	broad.mit.edu	37	X	129139263	129139263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129139263G>A	ENST00000218147.7	+	2	253	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	BCORL1_ENST00000607874.1_3'UTR|BCORL1_ENST00000359304.2_Missense_Mutation_p.R19Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R19Q|BCORL1_ENST00000540052.1_Missense_Mutation_p.R19Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	19					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTTCTGACCGGATTCGCATG	0.607																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(55-57)cGg>cAg		BCL6 corepressor-like 1							153.0	129.0	137.0					X																	129139263		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129139263G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.56G>A	X.37:g.129139263G>A	ENSP00000218147:p.Arg19Gln					BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Missense_Mutation_p.R19Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R19Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.R19Q	p.R19Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			1	100	+			19					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.56G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136149	0.77662	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.59906	0.25;0.61;0.23;0.25	4.72	4.72	0.59763	.	0.000000	0.29806	N	0.011155	T	0.60741	0.2292	N	0.24115	0.695	0.33443	D	0.582685	D	0.76494	0.999	P	0.58331	0.837	T	0.73646	-0.3917	10	0.87932	D	0	-9.6842	17.0962	0.86635	0.0:0.0:1.0:0.0	.	19	Q5H9F3	BCORL_HUMAN	Q	19	ENSP00000218147:R19Q;ENSP00000307541:R19Q;ENSP00000352253:R19Q;ENSP00000437775:R19Q	ENSP00000218147:R19Q	R	+	2	0	BCORL1	128966944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.002000	0.76304	1.956000	0.56807	0.436000	0.28706	CGG		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		63	119	0	0	0	1	0	63	119				
RPS6KA5	9252	broad.mit.edu	37	14	91386579	91386579	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91386579T>A	ENST00000261991.3	-	7	950	c.777A>T	c.(775-777)ggA>ggT	p.G259G	RPS6KA5_ENST00000418736.2_Silent_p.G259G|RPS6KA5_ENST00000536315.2_Silent_p.G180G	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	259	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AATTTTTTTCTCCATCAACAG	0.343																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(775-777)ggA>ggT		ribosomal protein S6 kinase, 90kDa, polypeptide 5							91.0	99.0	96.0					14																	91386579		2203	4297	6500	SO:0001819	synonymous_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91386579T>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.777A>T	14.37:g.91386579T>A						RPS6KA5_ENST00000418736.2_Silent_p.G259G|RPS6KA5_ENST00000536315.2_Silent_p.G180G	p.G259G	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	7	950	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	259			Protein kinase 1.		O95316|Q96AF7	Silent	SNP	ENST00000261991.3	37	c.777A>T	CCDS9893.1																																																																																				0.343	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		12	117	0	0	0	1	0	12	117				
RPL15	6138	broad.mit.edu	37	3	23960723	23960723	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23960723C>A	ENST00000307839.5	+	4	985	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	NKIRAS1_ENST00000412028.1_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000456530.2_Missense_Mutation_p.L116M|NKIRAS1_ENST00000425478.2_5'Flank|NKIRAS1_ENST00000437230.1_5'Flank|RPL15_ENST00000435882.1_Missense_Mutation_p.L116M|RPL15_ENST00000415719.1_Missense_Mutation_p.L116M|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000415901.2_5'Flank|NKIRAS1_ENST00000443659.2_5'Flank|RPL15_ENST00000413699.1_Missense_Mutation_p.L116M|RPL15_ENST00000354811.5_Missense_Mutation_p.L116M	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	116					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCTGAGAGTCCTGAATTCTTA	0.448																																						ENST00000307839.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(346-348)Ctg>Atg		ribosomal protein L15							70.0	76.0	74.0					3																	23960723		2203	4300	6503	SO:0001583	missense	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23960723C>A	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"""L ribosomal proteins"""	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.346C>A	3.37:g.23960723C>A	ENSP00000309334:p.Leu116Met					RPL15_ENST00000456530.2_Missense_Mutation_p.L116M|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.L116M|RPL15_ENST00000415719.1_Missense_Mutation_p.L116M|RPL15_ENST00000413699.1_Missense_Mutation_p.L116M|RPL15_ENST00000354811.5_Missense_Mutation_p.L116M	p.L116M	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN			4	985	+			116					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Missense_Mutation	SNP	ENST00000307839.5	37	c.346C>A	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532280	0.64972	.	.	ENSG00000174748	ENST00000307839;ENST00000422218;ENST00000434031;ENST00000413699;ENST00000456530;ENST00000412097;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.92	3.85	0.44370	Ribosomal protein L23/L15e (1);	0.000000	0.53938	U	0.000045	T	0.79293	0.4421	M	0.91510	3.215	0.58432	D	0.999994	D;B	0.56746	0.977;0.265	D;P	0.63283	0.913;0.731	T	0.82022	-0.0663	9	0.66056	D	0.02	.	9.1913	0.37200	0.0:0.7327:0.0:0.2673	.	116;116	Q642I1;P61313	.;RL15_HUMAN	M	116	.	ENSP00000309334:L116M	L	+	1	2	RPL15	23935727	0.958000	0.32768	1.000000	0.80357	0.952000	0.60782	2.066000	0.41452	1.463000	0.47967	0.644000	0.83932	CTG		0.448	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		5	82	1	0	0.217242	1	0.218821	5	82				
CRNKL1	51340	broad.mit.edu	37	20	20023022	20023022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20023022G>A	ENST00000377340.2	-	9	1625	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R520C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R371C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	532	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TAAATGTAGCGCTTCCAGTGC	0.453																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(1594-1596)Cgc>Tgc		crooked neck pre-mRNA splicing factor 1							151.0	140.0	144.0					20																	20023022		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20023022G>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1594C>T	20.37:g.20023022G>A	ENSP00000366557:p.Arg532Cys					CRNKL1_ENST00000377327.4_Missense_Mutation_p.R520C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R371C	p.R532C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			9	1625	-			532					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1594C>T	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131665	0.77662	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.36157	1.27;1.27;1.27	5.93	4.92	0.64577	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	M	0.93594	3.435	0.80722	D	1	P	0.38978	0.652	B	0.34779	0.189	T	0.62077	-0.6930	10	0.72032	D	0.01	-9.686	12.3686	0.55242	0.0:0.0:0.6784:0.3216	.	532	Q9BZJ0	CRNL1_HUMAN	C	520;532;371	ENSP00000366544:R520C;ENSP00000366557:R532C;ENSP00000440733:R371C	ENSP00000366544:R520C	R	-	1	0	CRNKL1	19971022	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.063000	0.57499	2.797000	0.96272	0.655000	0.94253	CGC		0.453	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			44	65	0	0	0	1	0	44	65				
AQP3	360	broad.mit.edu	37	9	33442895	33442895	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442895G>T	ENST00000297991.4	-	4	527	c.447C>A	c.(445-447)acC>acA	p.T149T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	149					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAGAGGGGTAGGTAGCAAAGA	0.552																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(445-447)acC>acA		aquaporin 3 (Gill blood group)							162.0	158.0	159.0					9																	33442895		2203	4300	6503	SO:0001819	synonymous_variant	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33442895G>T		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.447C>A	9.37:g.33442895G>T						AQP3_ENST00000493581.1_5'UTR	p.T149T	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	4	527	-			149					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Silent	SNP	ENST00000297991.4	37	c.447C>A	CCDS6542.1																																																																																				0.552	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		38	84	1	0	2.09667e-21	1	2.75882e-21	38	84				
PLSCR1	5359	broad.mit.edu	37	3	146246561	146246561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146246561G>A	ENST00000342435.4	-	4	562	c.152C>T	c.(151-153)gCc>gTc	p.A51V	PLSCR1_ENST00000487389.1_Missense_Mutation_p.A44V|PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	51	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGAATGGCCGGCTGGTGGGGG	0.522																																						ENST00000342435.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(151-153)gCc>gTc		phospholipid scramblase 1							33.0	41.0	38.0					3																	146246561		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246561G>A	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.152C>T	3.37:g.146246561G>A	ENSP00000345494:p.Ala51Val					PLSCR1_ENST00000487389.1_Missense_Mutation_p.A44V|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron	p.A51V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN			4	562	-			51					B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.152C>T	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399680	0.42512	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349	T;T;T;T	0.23348	2.26;2.27;2.22;1.91	3.86	-3.28	0.05033	.	.	.	.	.	T	0.14184	0.0343	L	0.39898	1.24	0.09310	N	1	B;B	0.22003	0.013;0.063	B;B	0.16289	0.015;0.007	T	0.32322	-0.9911	9	0.22109	T	0.4	.	2.0293	0.03526	0.3628:0.3682:0.1408:0.1282	.	51;51	Q8WVK1;O15162	.;PLS1_HUMAN	V	51;44;51;51	ENSP00000345494:A51V;ENSP00000417792:A44V;ENSP00000418103:A51V;ENSP00000420523:A51V	ENSP00000345494:A51V	A	-	2	0	PLSCR1	147729251	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.163000	0.16520	-0.445000	0.07159	0.305000	0.20034	GCC		0.522	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		14	23	0	0	0	1	0	14	23				
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47646785G>A	ENST00000296862.1	+	4	386	c.386G>A	c.(385-387)gGa>gAa	p.G129E	GPR111_ENST00000507065.1_Missense_Mutation_p.G61E|GPR111_ENST00000398742.2_Missense_Mutation_p.G61E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	129					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(181-183)gGa>gAa		G protein-coupled receptor 111							120.0	117.0	118.0					6																	47646785		1975	4175	6150	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47646785G>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.386G>A	6.37:g.47646785G>A	ENSP00000296862:p.Gly129Glu					GPR111_ENST00000296862.1_Missense_Mutation_p.G129E|GPR111_ENST00000507065.1_Missense_Mutation_p.G61E	p.G61E			Q8IZF7	GP111_HUMAN			3	231	+			129					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.182G>A		.	.	.	.	.	.	.	.	.	.	G	14.87	2.663573	0.47572	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.67345	0.44;0.3;-0.26	4.69	4.69	0.59074	.	0.000000	0.46442	D	0.000295	T	0.67002	0.2847	L	0.34521	1.04	0.32821	D	0.502702	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70339	-0.4899	10	0.87932	D	0	.	14.9092	0.70743	0.0:0.0:1.0:0.0	.	61;129	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	E	61;129;61	ENSP00000422934:G61E;ENSP00000296862:G129E;ENSP00000381727:G61E	ENSP00000296862:G129E	G	+	2	0	GPR111	47754744	0.998000	0.40836	0.589000	0.28718	0.099000	0.18886	4.883000	0.63128	2.609000	0.88269	0.644000	0.83932	GGA		0.458	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		4	41	0	0	0	1	0	4	41				
ZNF746	155061	broad.mit.edu	37	7	149174013	149174013	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149174013C>A	ENST00000340622.3	-	6	1118	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	ZNF746_ENST00000458143.2_Splice_Site_p.A280S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	280					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCACCTGTACCTTCCGTGGAG	0.612																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.e6+1		zinc finger protein 746							185.0	172.0	176.0					7																	149174013		2203	4300	6503	SO:0001630	splice_region_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174013C>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.838+1G>T	7.37:g.149174013C>A						ZNF746_ENST00000458143.2_Splice_Site_p.A280_splice	p.D280_splice			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1118	-	Melanoma(164;0.165)		280					A8K6Z9|Q6ZRF9	Splice_Site	SNP	ENST00000340622.3	37	c.838_splice	CCDS5897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.41|17.41	3.382363|3.382363	0.61845|0.61845	.|.	.|.	ENSG00000181220|ENSG00000181220	ENST00000458143|ENST00000340622	T|T	0.10763|0.14640	2.84|2.49	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.47093	.|D	.|0.000241	T|T	0.28632|0.28632	0.0709|0.0709	L|L	0.47716|0.47716	1.5|1.5	0.29815|0.29815	N|N	0.83128|0.83128	P|D	0.44139|0.76494	0.827|0.999	B|D	0.38327|0.70716	0.271|0.97	T|T	0.02933|0.02933	-1.1092|-1.1092	8|9	.|.	.|.	.|.	.|.	13.7839|13.7839	0.63097|0.63097	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280|280	Q6NUN9-2|Q6NUN9	.|ZN746_HUMAN	S|Y	280|280	ENSP00000395007:A280S|ENSP00000345140:D280Y	.|.	A|D	-|-	1|1	0|0	ZNF746|ZNF746	148804946|148804946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.592000|0.592000	0.36648|0.36648	3.548000|3.548000	0.53670|0.53670	2.329000|2.329000	0.79093|0.79093	0.561000|0.561000	0.74099|0.74099	GCA|GAT		0.612	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557	Missense_Mutation	11	227	1	0	0.000219431	1	0.000240782	11	227				
ARRB1	408	broad.mit.edu	37	11	74989755	74989755	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74989755C>A	ENST00000420843.2	-	8	613	c.516G>T	c.(514-516)caG>caT	p.Q172H	ARRB1_ENST00000393505.4_Missense_Mutation_p.Q172H|ARRB1_ENST00000360025.3_Missense_Mutation_p.Q172H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	172					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTGGGGCATACTGAACCTTCC	0.597																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(514-516)caG>caT		arrestin, beta 1							118.0	114.0	116.0					11																	74989755		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74989755C>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.516G>T	11.37:g.74989755C>A	ENSP00000409581:p.Gln172His					ARRB1_ENST00000360025.3_Missense_Mutation_p.Q172H|ARRB1_ENST00000393505.4_Missense_Mutation_p.Q172H	p.Q172H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			8	613	-			172					B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.516G>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167644	0.38315	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	4.98	-0.195	0.13236	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.24661	0.0598	M	0.86028	2.79	0.47698	D	0.999497	B;P	0.35107	0.428;0.484	B;B	0.38683	0.128;0.279	T	0.06373	-1.0830	10	0.87932	D	0	-18.2066	9.19	0.37193	0.0:0.6093:0.0:0.3907	.	172;172	P49407-2;P49407	.;ARRB1_HUMAN	H	172;172;172;167	ENSP00000409581:Q172H;ENSP00000377141:Q172H;ENSP00000353124:Q172H;ENSP00000433171:Q167H	ENSP00000353124:Q172H	Q	-	3	2	ARRB1	74667403	1.000000	0.71417	0.991000	0.47740	0.615000	0.37417	1.066000	0.30604	-0.326000	0.08564	-0.362000	0.07510	CAG		0.597	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		19	158	1	0	2.94398e-08	1	3.51695e-08	19	158				
CORT	1325	broad.mit.edu	37	1	10510198	10510198	+	5'UTR	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10510198A>G	ENST00000377049.3	+	0	423				APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron|CORT_ENST00000320498.4_Missense_Mutation_p.Q23R	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAGACCCAAGTCCCCAAA	0.527																																						ENST00000320498.4																			0				breast(1)|endometrium(1)|stomach(1)	3						c.(67-69)cAa>cGa		cortistatin							121.0	128.0	125.0					1																	10510198		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1325							g.chr1:10510198A>G	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.-83A>G	1.37:g.10510198A>G						APITD1_ENST00000602296.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|CORT_ENST00000377049.3_5'UTR	p.Q23R						UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)	1	228	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						Q5T6G0|Q6UX11	Missense_Mutation	SNP	ENST00000377049.3	37	c.68A>G	CCDS117.2	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749354	0.30955	.	.	ENSG00000241563	ENST00000320498	.	.	.	4.49	-0.741	0.11112	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35475	-0.9787	5	0.87932	D	0	-11.3808	0.5374	0.00639	0.4547:0.1702:0.198:0.1771	.	.	.	.	R	23	.	ENSP00000317110:Q23R	Q	+	2	0	CORT	10432785	0.000000	0.05858	0.038000	0.18304	0.050000	0.14768	-0.834000	0.04391	-0.228000	0.09869	-0.313000	0.08912	CAA		0.527	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		6	145	0	0	0	1	0	6	145				
PDZD8	118987	broad.mit.edu	37	10	119043323	119043323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043323G>A	ENST00000334464.5	-	5	3160	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	974					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTTGTCTGACGTGTTGGGTGT	0.458																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2920-2922)aCg>aTg		PDZ domain containing 8							284.0	283.0	283.0					10																	119043323		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043323G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2921C>T	10.37:g.119043323G>A	ENSP00000334642:p.Thr974Met						p.T974M	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3160	-		Colorectal(252;0.19)	974					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2921C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551490	0.65311	.	.	ENSG00000165650	ENST00000334464	D	0.86627	-2.15	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	L	0.29908	0.895	0.51233	D	0.999919	D	0.89917	1.0	D	0.71656	0.974	D	0.90067	0.4160	10	0.66056	D	0.02	-12.4639	15.7256	0.77756	0.0:0.0:0.8628:0.1372	.	974	Q8NEN9	PDZD8_HUMAN	M	974	ENSP00000334642:T974M	ENSP00000334642:T974M	T	-	2	0	PDZD8	119033313	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.913000	0.87471	2.764000	0.94973	0.650000	0.86243	ACG		0.458	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		114	209	0	0	0	1	0	114	209				
DDIAS	220042	broad.mit.edu	37	11	82644869	82644869	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644869C>A	ENST00000533655.1	+	6	2701	c.2489C>A	c.(2488-2490)cCt>cAt	p.P830H	C11orf82_ENST00000430323.2_Missense_Mutation_p.P830H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.P529H	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		830					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATAAAAACACCTAGCCAGAAA	0.373																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2488-2490)cCt>cAt		chromosome 11 open reading frame 82							35.0	35.0	35.0					11																	82644869		2203	4299	6502	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644869C>A																												ENST00000533655.1:c.2489C>A	11.37:g.82644869C>A	ENSP00000435421:p.Pro830His					C11orf82_ENST00000329143.3_Missense_Mutation_p.P529H|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.P830H|C11orf82_ENST00000525361.1_Intron	p.P830H	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2701	+			830					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2489C>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365657	0.24684	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.18657	2.47;2.47;2.2	6.07	-2.92	0.05615	.	1.388660	0.04557	N	0.390947	T	0.17450	0.0419	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29458	-1.0011	9	.	.	.	.	5.0016	0.14268	0.5104:0.2555:0.0:0.234	.	830	Q8IXT1	NOXIN_HUMAN	H	830;830;529	ENSP00000414687:P830H;ENSP00000435421:P830H;ENSP00000329930:P529H	.	P	+	2	0	C11orf82	82322517	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.252000	0.08806	-0.409000	0.07553	0.585000	0.79938	CCT		0.373	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			8	31	1	0	0.000274275	1	0.000298791	8	31				
MUC17	140453	broad.mit.edu	37	7	100680859	100680859	+	Silent	SNP	G	G	A	rs534149898		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100680859G>A	ENST00000306151.4	+	3	6226	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2054	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACTACGCTTGTGGTCA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		26212	0.0		0.0	False		,,,				2504	0.001					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6160-6162)acG>acA		mucin 17, cell surface associated							172.0	164.0	166.0					7																	100680859		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680859G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6162G>A	7.37:g.100680859G>A							p.T2054T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6226	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2054			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6162G>A	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		94	59	0	0	0	1	0	94	59				
MTSS1	9788	broad.mit.edu	37	8	125579376	125579376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125579376G>A	ENST00000518547.1	-	8	1135	c.662C>T	c.(661-663)aCc>aTc	p.T221I	MTSS1_ENST00000325064.5_Missense_Mutation_p.T225I|MTSS1_ENST00000354184.4_Missense_Mutation_p.T21I|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.T221I|MTSS1_ENST00000524090.1_Missense_Mutation_p.T111I|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000431961.2_Missense_Mutation_p.T21I	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	221	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCCGAGATGGTCTGAAGGTG	0.443																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(661-663)aCc>aTc		metastasis suppressor 1							225.0	201.0	209.0					8																	125579376		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125579376G>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.662C>T	8.37:g.125579376G>A	ENSP00000429064:p.Thr221Ile					MTSS1_ENST00000431961.2_Missense_Mutation_p.T21I|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.T221I|MTSS1_ENST00000524090.1_Missense_Mutation_p.T111I|MTSS1_ENST00000354184.4_Missense_Mutation_p.T21I|MTSS1_ENST00000325064.5_Missense_Mutation_p.T225I	p.T221I	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		8	1135	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		221			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.662C>T	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826572	0.90955	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	T;T;T;T;T;T;T	0.48522	1.42;1.43;1.42;1.43;1.42;1.42;0.81	5.33	5.33	0.75918	IRSp53/MIM homology domain (IMD) (3);	0.148525	0.64402	D	0.000013	T	0.65512	0.2698	L	0.57536	1.79	0.80722	D	1	D;P;P;P;D	0.71674	0.998;0.919;0.865;0.852;0.982	D;P;P;P;P	0.67900	0.954;0.723;0.618;0.483;0.745	T	0.63152	-0.6701	10	0.42905	T	0.14	-28.7141	19.3868	0.94560	0.0:0.0:1.0:0.0	.	111;221;221;221;21	E7EWW5;A5YM41;O43312;O43312-4;O43312-2	.;.;MTSS1_HUMAN;.;.	I	221;221;21;225;21;111;21	ENSP00000367256:T221I;ENSP00000429064:T221I;ENSP00000346119:T21I;ENSP00000322804:T225I;ENSP00000393606:T21I;ENSP00000428319:T111I;ENSP00000428145:T21I	ENSP00000322804:T225I	T	-	2	0	MTSS1	125648557	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.654000	0.90174	0.561000	0.74099	ACC		0.443	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		30	59	0	0	0	1	0	30	59				
SALL4	57167	broad.mit.edu	37	20	50407072	50407072	+	Silent	SNP	G	G	A	rs149008635	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50407072G>A	ENST00000217086.4	-	2	2061	c.1950C>T	c.(1948-1950)ggC>ggT	p.G650G	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	650					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATCTGACCGCCCATGTGCA	0.552																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1948-1950)ggC>ggT		spalt-like transcription factor 4		G		4,4402	8.1+/-20.4	0,4,2199	64.0	55.0	58.0		1950	-3.0	1.0	20	dbSNP_134	58	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	SALL4	NM_020436.3		0,21,6482	AA,AG,GG		0.1977,0.0908,0.1615		650/1054	50407072	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407072G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1950C>T	20.37:g.50407072G>A						SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.G650G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2061	-			650					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1950C>T	CCDS13438.1																																																																																				0.552	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			8	34	0	0	0	1	0	8	34				
ZNF772	400720	broad.mit.edu	37	19	57988041	57988041	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57988041C>A	ENST00000343280.4	-	2	294		c.e2-1		ZNF772_ENST00000425074.3_Splice_Site|AC003005.2_ENST00000595422.1_lincRNA|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Splice_Site|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Splice_Site|AC004076.9_ENST00000415705.3_Splice_Site|ZNF772_ENST00000600175.1_Splice_Site	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TCATGGGAACCTGTGGGGAAG	0.527																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.e2-1		zinc finger protein 772							125.0	103.0	110.0					19																	57988041		2203	4300	6503	SO:0001630	splice_region_variant	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57988041C>A	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.34-1G>T	19.37:g.57988041C>A						ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000425074.3_Splice_Site|AC004076.9_ENST00000415705.3_Splice_Site|ZNF772_ENST00000356584.3_Splice_Site|AC004076.9_ENST00000596831.1_Splice_Site|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Splice_Site		NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	2	294	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)						A6NJK9|B4DH56|B4DYS0	Splice_Site	SNP	ENST00000343280.4	37		CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641285	0.47153	.	.	ENSG00000197128	ENST00000343280;ENST00000356584;ENST00000415705	.	.	.	2.75	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1981	0.37240	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF772	62679853	0.161000	0.22892	0.261000	0.24466	0.756000	0.42949	2.324000	0.43831	1.862000	0.54008	0.460000	0.39030	.		0.527	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596	Intron	11	19	1	0	0.000151284	1	0.000166931	11	19				
TERF2	7014	broad.mit.edu	37	16	69400902	69400902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69400902G>A	ENST00000254942.3	-	7	1164	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	TERF2_ENST00000569611.2_5'Flank|TERF2_ENST00000603068.1_Missense_Mutation_p.P341L	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	383					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				ACCGTCAGCCGGGGCTGAACT	0.537																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1147-1149)cCg>cTg		telomeric repeat binding factor 2							84.0	82.0	83.0					16																	69400902		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69400902G>A		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1148C>T	16.37:g.69400902G>A	ENSP00000254942:p.Pro383Leu					TERF2_ENST00000603068.1_Missense_Mutation_p.P341L	p.P383L	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			7	1164	-		Ovarian(137;0.101)	341						Missense_Mutation	SNP	ENST00000254942.3	37	c.1148C>T		.	.	.	.	.	.	.	.	.	.	G	19.65	3.866772	0.72065	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	5.11	0.69529	.	0.522812	0.21663	N	0.070997	T	0.51398	0.1672	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	P	0.47251	0.542	T	0.51450	-0.8704	9	0.42905	T	0.14	-2.6886	11.074	0.48021	0.0842:0.0:0.9158:0.0	.	341	Q15554	TERF2_HUMAN	L	341	.	ENSP00000254942:P341L	P	-	2	0	TERF2	67958403	0.954000	0.32549	0.996000	0.52242	0.916000	0.54674	1.717000	0.37991	1.570000	0.49709	0.655000	0.94253	CCG		0.537	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			12	63	0	0	0	1	0	12	63				
PLB1	151056	broad.mit.edu	37	2	28847958	28847958	+	Nonsense_Mutation	SNP	C	C	T	rs145118329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28847958C>T	ENST00000327757.5	+	50	3606	c.3562C>T	c.(3562-3564)Cga>Tga	p.R1188*	PLB1_ENST00000422425.2_Nonsense_Mutation_p.R1177*|PLB1_ENST00000541605.1_Nonsense_Mutation_p.R153*	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1188	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGGTAGAGCGAATGAAAAA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17195	0.001		0.0	False		,,,				2504	0.0					ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(3529-3531)Cga>Tga		phospholipase B1		C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	85.0	84.0		3529,3562	1.0	0.1	2	dbSNP_134	84	0,8600		0,0,4300	yes	stop-gained,stop-gained	PLB1	NM_001170585.1,NM_153021.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1177/1448,1188/1459	28847958	1,13005	2203	4300	6503	SO:0001587	stop_gained	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28847958C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3562C>T	2.37:g.28847958C>T	ENSP00000330442:p.Arg1188*					PLB1_ENST00000327757.5_Nonsense_Mutation_p.R1188*|PLB1_ENST00000541605.1_Nonsense_Mutation_p.R153*	p.R1177*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			49	3573	+	Acute lymphoblastic leukemia(172;0.155)		1188			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Nonsense_Mutation	SNP	ENST00000327757.5	37	c.3529C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	40	8.359937	0.98777	2.27E-4	0.0	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605	.	.	.	5.69	1.04	0.20106	.	0.951885	0.08675	N	0.910353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7495	13.0047	0.58696	0.562:0.438:0.0:0.0	.	.	.	.	X	1188;1177;153	.	ENSP00000330442:R1188X	R	+	1	2	PLB1	28701462	0.000000	0.05858	0.080000	0.20451	0.642000	0.38348	0.478000	0.22212	0.259000	0.21709	0.561000	0.74099	CGA		0.637	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			28	39	0	0	0	1	0	28	39				
PGBD1	84547	broad.mit.edu	37	6	28268879	28268879	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268879G>A	ENST00000405948.2	+	7	1668	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	PGBD1_ENST00000259883.3_Silent_p.K416K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	416						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGCGAAAAGTTGAACCCAG	0.353																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1246-1248)aaG>aaA		piggyBac transposable element derived 1							74.0	79.0	78.0					6																	28268879		2197	4297	6494	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268879G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1248G>A	6.37:g.28268879G>A						PGBD1_ENST00000259883.3_Silent_p.K416K	p.K416K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1668	+			416					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.1248G>A	CCDS4648.1																																																																																				0.353	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			7	113	0	0	0	1	0	7	113				
TDRD7	23424	broad.mit.edu	37	9	100204072	100204072	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100204072T>C	ENST00000355295.4	+	6	1065	c.770T>C	c.(769-771)cTt>cCt	p.L257P	TDRD7_ENST00000422139.2_Missense_Mutation_p.L183P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	257	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATATCTAAGCTTCCACATTTT	0.343																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(769-771)cTt>cCt		tudor domain containing 7							92.0	91.0	91.0					9																	100204072		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100204072T>C	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.770T>C	9.37:g.100204072T>C	ENSP00000347444:p.Leu257Pro					TDRD7_ENST00000422139.2_Missense_Mutation_p.L183P	p.L257P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			6	1065	+		Acute lymphoblastic leukemia(62;0.158)	257			Lotus/OST-HTH 2.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.770T>C	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626181	0.66901	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.30981	1.51;1.64	4.79	4.79	0.61399	.	0.139145	0.48767	D	0.000177	T	0.42291	0.1196	L	0.52573	1.65	0.80722	D	1	D	0.67145	0.996	P	0.57548	0.823	T	0.36480	-0.9746	10	0.87932	D	0	-18.5681	11.2822	0.49201	0.0:0.0:0.0:1.0	.	257	Q8NHU6	TDRD7_HUMAN	P	257;183	ENSP00000347444:L257P;ENSP00000413608:L183P	ENSP00000347444:L257P	L	+	2	0	TDRD7	99243893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.707000	0.68370	2.080000	0.62538	0.533000	0.62120	CTT		0.343	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		33	52	0	0	0	1	0	33	52				
MYBL2	4605	broad.mit.edu	37	20	42344668	42344668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42344668C>T	ENST00000217026.4	+	14	2171	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	MYBL2_ENST00000396863.4_Missense_Mutation_p.R658W	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	682					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAGAAAGCCCGGCAGCTCCT	0.612																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(2044-2046)Cgg>Tgg		v-myb avian myeloblastosis viral oncogene homolog-like 2							111.0	118.0	115.0					20																	42344668		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42344668C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.2044C>T	20.37:g.42344668C>T	ENSP00000217026:p.Arg682Trp					MYBL2_ENST00000396863.4_Missense_Mutation_p.R658W	p.R682W	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	2171	+		Myeloproliferative disorder(115;0.00452)	682					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.2044C>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919873	0.73098	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.28454	1.61;1.62	4.73	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.69823	2.125	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.50440	-0.8828	10	0.87932	D	0	-27.0985	8.2682	0.31827	0.1548:0.7596:0.0:0.0856	.	658;682	F8W6N6;P10244	.;MYBB_HUMAN	W	658;682	ENSP00000380072:R658W;ENSP00000217026:R682W	ENSP00000217026:R682W	R	+	1	2	MYBL2	41778082	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	2.386000	0.44380	1.140000	0.42260	0.491000	0.48974	CGG		0.612	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		54	93	0	0	0	1	0	54	93				
SHROOM2	357	broad.mit.edu	37	X	9912767	9912767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9912767C>T	ENST00000380913.3	+	9	4488	c.4398C>T	c.(4396-4398)acC>acT	p.T1466T	SHROOM2_ENST00000418909.2_Silent_p.T301T	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1466	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGCCAACACCGTGCTGGGGG	0.632																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4396-4398)acC>acT		shroom family member 2							55.0	47.0	49.0					X																	9912767		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9912767C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4398C>T	X.37:g.9912767C>T						SHROOM2_ENST00000418909.2_Silent_p.T301T	p.T1466T	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			9	4488	+		Hepatocellular(5;0.000888)	1466			ASD2.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.4398C>T	CCDS14135.1																																																																																				0.632	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	29	0	0	0	1	0	3	29				
CLEC1B	51266	broad.mit.edu	37	12	10151675	10151675	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10151675T>G	ENST00000298527.6	-	1	204	c.25A>C	c.(25-27)Acc>Ccc	p.T9P	CLEC1B_ENST00000428126.2_Missense_Mutation_p.T9P|CLEC1B_ENST00000348658.4_Missense_Mutation_p.T9P	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	9					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ATATTTAAGGTGATGTATCCA	0.363																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(25-27)Acc>Ccc		C-type lectin domain family 1, member B							224.0	213.0	217.0					12																	10151675		1874	4103	5977	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10151675T>G	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.25A>C	12.37:g.10151675T>G	ENSP00000298527:p.Thr9Pro					CLEC1B_ENST00000348658.4_Missense_Mutation_p.T9P|CLEC1B_ENST00000298527.6_Missense_Mutation_p.T9P	p.T9P			Q9P126	CLC1B_HUMAN			3	294	-			9					Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.25A>C	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.035330	0.35893	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	T;T;T	0.02579	4.24;4.87;4.24	5.67	1.97	0.26223	.	0.518973	0.17738	N	0.163645	T	0.10895	0.0266	M	0.80422	2.495	0.09310	N	1	D;D	0.61080	0.989;0.981	P;P	0.61201	0.885;0.77	T	0.06338	-1.0832	10	0.56958	D	0.05	.	7.2971	0.26399	0.0:0.2519:0.0:0.7481	.	9;9	Q9P126-2;Q9P126	.;CLC1B_HUMAN	P	9	ENSP00000406338:T9P;ENSP00000298527:T9P;ENSP00000327169:T9P	ENSP00000298527:T9P	T	-	1	0	CLEC1B	10042942	0.068000	0.21057	0.008000	0.14137	0.204000	0.24138	0.772000	0.26647	0.110000	0.17919	0.533000	0.62120	ACC		0.363	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		13	190	0	0	0	1	0	13	190				
HTRA4	203100	broad.mit.edu	37	8	38840057	38840057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38840057G>A	ENST00000302495.4	+	7	1255	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	385	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCTGCAAATGCTGTCCCTCA	0.413																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(1153-1155)atG>atA		HtrA serine peptidase 4							181.0	176.0	178.0					8																	38840057		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38840057G>A	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1155G>A	8.37:g.38840057G>A	ENSP00000305919:p.Met385Ile						p.M385I	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		7	1255	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	385			PDZ.		Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.1155G>A	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533049	0.85812	.	.	ENSG00000169495	ENST00000302495	T	0.13657	2.57	5.21	5.21	0.72293	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	L	0.49350	1.555	0.80722	D	1	D	0.59767	0.986	D	0.67103	0.949	T	0.00953	-1.1502	10	0.66056	D	0.02	-15.4316	16.6077	0.84835	0.0:0.0:1.0:0.0	.	385	P83105	HTRA4_HUMAN	I	385	ENSP00000305919:M385I	ENSP00000305919:M385I	M	+	3	0	HTRA4	38959214	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.519000	0.81809	2.595000	0.87683	0.561000	0.74099	ATG		0.413	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		47	62	0	0	0	1	0	47	62				
GAB4	128954	broad.mit.edu	37	22	17447227	17447227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17447227C>A	ENST00000400588.1	-	6	1158	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	351										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCAATGCTGTCTGACAGGCCC	0.527																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1051-1053)Gac>Tac		GRB2-associated binding protein family, member 4							29.0	31.0	30.0					22																	17447227		1987	4194	6181	SO:0001583	missense	128954							g.chr22:17447227C>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1051G>T	22.37:g.17447227C>A	ENSP00000383431:p.Asp351Tyr						p.D351Y	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			6	1158	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	351						Missense_Mutation	SNP	ENST00000400588.1	37	c.1051G>T	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	6.789	0.514574	0.12944	.	.	ENSG00000215568	ENST00000400588	T	0.17054	2.3	2.82	1.75	0.24633	.	0.159429	0.53938	D	0.000060	T	0.21881	0.0527	L	0.42245	1.32	0.35310	D	0.783808	D	0.61697	0.99	P	0.55545	0.778	T	0.18116	-1.0347	10	0.51188	T	0.08	.	7.2768	0.26290	0.0:0.8418:0.0:0.1582	.	351	Q2WGN9	GAB4_HUMAN	Y	351	ENSP00000383431:D351Y	ENSP00000383431:D351Y	D	-	1	0	GAB4	15827227	0.998000	0.40836	0.009000	0.14445	0.042000	0.13812	3.635000	0.54309	0.425000	0.26087	0.205000	0.17691	GAC		0.527	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		7	18	1	0	0.0293803	1	0.0301098	7	18				
BTN3A3	10384	broad.mit.edu	37	6	26451903	26451903	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26451903C>T	ENST00000244519.2	+	11	1262	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	BTN3A3_ENST00000361232.3_Splice_Site_p.A291V|BTN3A3_ENST00000339789.4_Splice_Site_p.A298V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	340	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTCTCTGCAGCGGATGTGATT	0.562																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.e11-1		butyrophilin, subfamily 3, member A3							50.0	55.0	53.0					6																	26451903		2203	4300	6503	SO:0001630	splice_region_variant	10384					integral to membrane		g.chr6:26451903C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1019-1C>T	6.37:g.26451903C>T						BTN3A3_ENST00000339789.4_Splice_Site_p.A298_splice|BTN3A3_ENST00000361232.3_Splice_Site_p.A291_splice	p.A340_splice	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1262	+			340			B30.2/SPRY.		B4DWI7|E9PCP5	Splice_Site	SNP	ENST00000244519.2	37	c.1018_splice	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	6.367	0.435781	0.12104	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	3.06	0.0398	0.14206	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.18130	0.0435	N	0.03983	-0.305	0.26675	N	0.971659	D;P	0.71674	0.998;0.869	P;B	0.57679	0.825;0.187	T	0.04165	-1.0972	8	.	.	.	.	3.6406	0.08165	0.1992:0.5532:0.0:0.2476	.	291;340	E9PCP5;O00478	.;BT3A3_HUMAN	V	340;298;291;130	ENSP00000244519:A340V;ENSP00000344968:A298V;ENSP00000355238:A291V;ENSP00000419736:A130V	.	A	+	2	0	BTN3A3	26559882	0.000000	0.05858	0.013000	0.15412	0.303000	0.27691	-2.748000	0.00794	0.093000	0.17368	0.455000	0.32223	GCG		0.562	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	Missense_Mutation	10	13	0	0	0	1	0	10	13				
SLC37A1	54020	broad.mit.edu	37	21	43963669	43963669	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43963669C>T	ENST00000352133.2	+	8	1669	c.687C>T	c.(685-687)atC>atT	p.I229I	SLC37A1_ENST00000398341.3_Silent_p.I229I			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	229					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CTGGAGCCATCGTGGCAGCCA	0.597																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(685-687)atC>atT		solute carrier family 37 (glucose-6-phosphate transporter), member 1							178.0	133.0	148.0					21																	43963669		2203	4300	6503	SO:0001819	synonymous_variant	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43963669C>T	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.687C>T	21.37:g.43963669C>T						SLC37A1_ENST00000398341.3_Silent_p.I229I	p.I229I			P57057	GLPT_HUMAN			8	1669	+			229					D3DSJ7|Q9HAQ1	Silent	SNP	ENST00000352133.2	37	c.687C>T	CCDS13689.1																																																																																				0.597	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			10	115	0	0	0	1	0	10	115				
APEX1	328	broad.mit.edu	37	14	20925444	20925444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20925444A>G	ENST00000216714.3	+	5	1002	c.734A>G	c.(733-735)cAg>cGg	p.Q245R	APEX1_ENST00000398030.4_Missense_Mutation_p.Q245R|APEX1_ENST00000555414.1_Missense_Mutation_p.Q245R|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000556252.1_5'Flank|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	245					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATTACTGCAGGCTGTGCCA	0.498								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(733-735)cAg>cGg	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						142.0	125.0	131.0					14																	20925444		2203	4300	6503	SO:0001583	missense	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925444A>G	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.734A>G	14.37:g.20925444A>G	ENSP00000216714:p.Gln245Arg					APEX1_ENST00000398030.4_Missense_Mutation_p.Q245R|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000555414.1_Missense_Mutation_p.Q245R	p.Q245R	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1002	+	all_cancers(95;0.00123)	all_lung(585;0.235)	245					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.734A>G	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205606	0.39003	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000555839	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.79	4.66	0.58398	Endonuclease/exonuclease/phosphatase (2);	0.454838	0.23826	N	0.044199	T	0.57946	0.2088	N	0.05351	-0.065	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.58188	-0.7680	10	0.66056	D	0.02	.	9.0019	0.36088	0.9163:0.0:0.0837:0.0	.	245	P27695	APEX1_HUMAN	R	245;245;245;245;216	ENSP00000451979:Q245R;ENSP00000216714:Q245R;ENSP00000451327:Q245R;ENSP00000381111:Q245R;ENSP00000452460:Q216R	ENSP00000216714:Q245R	Q	+	2	0	APEX1	19995284	0.999000	0.42202	0.984000	0.44739	0.994000	0.84299	0.721000	0.25911	2.207000	0.71202	0.533000	0.62120	CAG		0.498	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		30	54	0	0	0	1	0	30	54				
PPFIA4	8497	broad.mit.edu	37	1	203045491	203045491	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203045491A>G	ENST00000447715.2	+	35	3972	c.3531A>G	c.(3529-3531)ggA>ggG	p.G1177G	PPFIA4_ENST00000414050.2_Silent_p.G906G|PPFIA4_ENST00000599966.1_Silent_p.G684G|PPFIA4_ENST00000367240.2_Silent_p.G1178G|PPFIA4_ENST00000295706.4_Silent_p.G684G|PPFIA4_ENST00000594572.1_Intron|PPFIA4_ENST00000272198.6_Silent_p.G693G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1177					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCTCTACGGACACATGCTCT	0.602																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3532-3534)ggA>ggG		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							96.0	110.0	105.0					1																	203045491		2170	4262	6432	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203045491A>G	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3531A>G	1.37:g.203045491A>G						PPFIA4_ENST00000272198.6_Silent_p.G693G|PPFIA4_ENST00000295706.4_Silent_p.G684G|PPFIA4_ENST00000447715.2_Silent_p.G1177G|PPFIA4_ENST00000599966.1_Silent_p.G684G|PPFIA4_ENST00000594572.1_Intron|PPFIA4_ENST00000414050.2_Silent_p.G906G	p.G1178G			O75335	LIPA4_HUMAN			29	4061	+			693					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.3534A>G																																																																																					0.602	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		36	53	0	0	0	1	0	36	53				
VWA7	80737	broad.mit.edu	37	6	31734933	31734933	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31734933A>G	ENST00000375688.4	-	13	2083		c.e13+1		VWA7_ENST00000375686.3_Splice_Site|VWA7_ENST00000467576.1_Splice_Site|VWA7_ENST00000447450.1_Splice_Site|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7							extracellular region (GO:0005576)											GAATAAATGTACCTGCAACTG	0.428																																						ENST00000375686.3																			0											c.e13+1		von Willebrand factor A domain containing 7							21.0	22.0	22.0					6																	31734933		2203	4298	6501	SO:0001630	splice_region_variant	80737					extracellular region		g.chr6:31734933A>G		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1882+1T>C	6.37:g.31734933A>G						VWA7_ENST00000375688.4_Splice_Site|VWA7_ENST00000467576.1_Splice_Site|VWA7_ENST00000447450.1_Splice_Site		NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			13	2120	-								A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Splice_Site	SNP	ENST00000375688.4	37		CCDS4721.2	.	.	.	.	.	.	.	.	.	.	A	14.98	2.697256	0.48202	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6188	0.56592	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf27	31842912	0.997000	0.39634	0.990000	0.47175	0.632000	0.37999	4.187000	0.58344	2.239000	0.73571	0.454000	0.30748	.		0.428	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	Intron	3	9	0	0	0	1	0	3	9				
TRRAP	8295	broad.mit.edu	37	7	98606006	98606006	+	Missense_Mutation	SNP	G	G	T	rs141778269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98606006G>T	ENST00000359863.4	+	69	10927	c.10718G>T	c.(10717-10719)cGg>cTg	p.R3573L	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3562L|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3544L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3573	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGTGCCCCGGGTTGTGGCA	0.627																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10717-10719)cGg>cTg		transformation/transcription domain-associated protein							120.0	115.0	116.0					7																	98606006		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98606006G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10718G>T	7.37:g.98606006G>T	ENSP00000352925:p.Arg3573Leu					TRRAP_ENST00000355540.3_Missense_Mutation_p.R3544L|TRRAP_ENST00000446306.3_Missense_Mutation_p.R3562L	p.R3573L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		69	10927	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3573			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10718G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.878240|5.878240	0.97055|0.97055	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|D;D	.|0.81908	.|-1.55;-1.55	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	.|0.070058	.|0.64402	.|D	.|0.000018	D|D	0.86218|0.86218	0.5880|0.5880	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79108	.|0.99;0.992;0.992	T|T	0.80228|0.80228	-0.1469|-0.1469	5|10	.|0.02654	.|T	.|1	.|.	19.0238|19.0238	0.92925|0.92925	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3544;3301;3573	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	W|L	3302|3573;3544;3561	.|ENSP00000352925:R3573L;ENSP00000347733:R3544L	.|ENSP00000347733:R3544L	G|R	+|+	1|2	0|0	TRRAP|TRRAP	98443942|98443942	1.000000|1.000000	0.71417|0.71417	0.025000|0.025000	0.17156|0.17156	0.552000|0.552000	0.35366|0.35366	9.862000|9.862000	0.99564|0.99564	2.490000|2.490000	0.84030|0.84030	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.627	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	110	1	0	3.09899e-07	1	3.63227e-07	7	110				
CEP128	145508	broad.mit.edu	37	14	81307033	81307033	+	Missense_Mutation	SNP	T	T	G	rs550964724		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81307033T>G	ENST00000555265.1	-	10	1217	c.842A>C	c.(841-843)aAg>aCg	p.K281T	CEP128_ENST00000281129.3_Missense_Mutation_p.K281T|CEP128_ENST00000216517.6_Missense_Mutation_p.K281T			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	281						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTTGATTCTTCTCAGTTTC	0.373																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(841-843)aAg>aCg		centrosomal protein 128kDa							207.0	196.0	200.0					14																	81307033		2202	4299	6501	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81307033T>G	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.842A>C	14.37:g.81307033T>G	ENSP00000451162:p.Lys281Thr					CEP128_ENST00000216517.6_Missense_Mutation_p.K281T|CEP128_ENST00000281129.3_Missense_Mutation_p.K281T	p.K281T			Q6ZU80	CE128_HUMAN			10	1217	-			281					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.842A>C	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199528	0.79015	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	D;D;D	0.82433	-1.61;-1.61;-1.61	5.42	5.42	0.78866	.	0.185198	0.35320	N	0.003300	D	0.90147	0.6921	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90682	0.4606	10	0.54805	T	0.06	.	15.1432	0.72626	0.0:0.0:0.0:1.0	.	281;162;281	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	T	281	ENSP00000281129:K281T;ENSP00000451162:K281T;ENSP00000216517:K281T	ENSP00000216517:K281T	K	-	2	0	CEP128	80376786	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.179000	0.50887	2.070000	0.61991	0.533000	0.62120	AAG		0.373	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		44	77	0	0	0	1	0	44	77				
PDCD4	27250	broad.mit.edu	37	10	112645010	112645010	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112645010G>T	ENST00000280154.7	+	5	715		c.e5-1		PDCD4_ENST00000393104.2_Splice_Site|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)						apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCCCTCAAAGGAGAACTGTG	0.328																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.e6-1		programmed cell death 4 (neoplastic transformation inhibitor)							99.0	102.0	101.0					10																	112645010		2203	4300	6503	SO:0001630	splice_region_variant	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112645010G>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.442-1G>T	10.37:g.112645010G>T						PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Splice_Site		NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	768	+		Breast(234;0.0848)|Lung NSC(174;0.238)						B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Splice_Site	SNP	ENST00000280154.7	37		CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079329	0.55753	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3397	0.98756	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDCD4	112635000	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	8.030000	0.88816	2.803000	0.96430	0.585000	0.79938	.		0.328	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456	Intron	45	86	1	0	1.23103e-26	1	1.64014e-26	45	86				
FBLN7	129804	broad.mit.edu	37	2	112942849	112942849	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942849T>G	ENST00000331203.2	+	7	1151	c.880T>G	c.(880-882)Ttc>Gtc	p.F294V	FBLN7_ENST00000409450.3_Missense_Mutation_p.F248V|FBLN7_ENST00000409667.3_Missense_Mutation_p.F160V|FBLN7_ENST00000409903.1_Missense_Mutation_p.F294V	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	294	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGGTGGAAGCTTCCAGTGTGT	0.587																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(880-882)Ttc>Gtc		fibulin 7							153.0	131.0	138.0					2																	112942849		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942849T>G		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.880T>G	2.37:g.112942849T>G	ENSP00000331411:p.Phe294Val					FBLN7_ENST00000409450.3_Missense_Mutation_p.F248V|FBLN7_ENST00000409903.1_Missense_Mutation_p.F294V|FBLN7_ENST00000409667.3_Missense_Mutation_p.F160V	p.F294V	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			7	1151	+			294			EGF-like 3; calcium-binding (Potential).		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.880T>G	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.983499	0.93044	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	5.37	5.37	0.77165	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.046783	0.85682	D	0.000000	D	0.98403	0.9469	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	0.972;1.0;1.0;1.0	P;D;D;D	0.91635	0.797;0.998;0.998;0.999	D	0.99647	1.0990	10	0.72032	D	0.01	-31.6795	15.3695	0.74551	0.0:0.0:0.0:1.0	.	160;248;294;294	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	V	294;294;160;248;188;116	ENSP00000331411:F294V;ENSP00000386295:F294V;ENSP00000386822:F160V;ENSP00000387000:F248V;ENSP00000388025:F188V;ENSP00000272559:F116V	ENSP00000272559:F116V	F	+	1	0	FBLN7	112659320	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.886000	0.56190	2.032000	0.59987	0.459000	0.35465	TTC		0.587	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		46	38	0	0	0	1	0	46	38				
MAP3K13	9175	broad.mit.edu	37	3	185161421	185161421	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185161421C>A	ENST00000265026.3	+	4	1182	c.848C>A	c.(847-849)cCt>cAt	p.P283H	MAP3K13_ENST00000443863.1_Missense_Mutation_p.P139H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P139H|snoU13_ENST00000459417.1_RNA|MAP3K13_ENST00000446828.1_Missense_Mutation_p.P76H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P283H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCAAATCACCTAAGTGAGTT	0.368																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(847-849)cCt>cAt		mitogen-activated protein kinase kinase kinase 13							89.0	86.0	87.0					3																	185161421		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185161421C>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.848C>A	3.37:g.185161421C>A	ENSP00000265026:p.Pro283His					MAP3K13_ENST00000446828.1_Missense_Mutation_p.P76H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P139H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P139H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P283H	p.P283H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	1182	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		283			Protein kinase.			Missense_Mutation	SNP	ENST00000265026.3	37	c.848C>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991022	0.93106	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056952	0.64402	D	0.000001	D	0.82609	0.5074	N	0.03891	-0.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87513	0.2441	10	0.87932	D	0	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	139;76;283	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	76;283;139;139;283	ENSP00000411483:P76H;ENSP00000399910:P283H;ENSP00000409325:P139H;ENSP00000439257:P139H;ENSP00000265026:P283H	ENSP00000265026:P283H	P	+	2	0	MAP3K13	186644115	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CCT		0.368	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		4	79	1	0	0.000602214	1	0.000649039	4	79				
GPR112	139378	broad.mit.edu	37	X	135405040	135405040	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405040C>T	ENST00000394143.1	+	5	465	c.174C>T	c.(172-174)tgC>tgT	p.C58C	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000370652.1_Silent_p.C58C|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	58					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCACAGCATGCATTGATCTGG	0.418																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(172-174)tgC>tgT		G protein-coupled receptor 112							106.0	102.0	103.0					X																	135405040		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405040C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.174C>T	X.37:g.135405040C>T						GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Silent_p.C58C|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000394141.1_Intron	p.C58C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	465	+	Acute lymphoblastic leukemia(192;0.000127)		58					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.174C>T	CCDS35409.1																																																																																				0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			9	126	0	0	0	1	0	9	126				
TNFRSF17	608	broad.mit.edu	37	16	12061576	12061576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:12061576T>C	ENST00000053243.1	+	3	645	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R	TNFRSF17_ENST00000396495.3_Missense_Mutation_p.C94R|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	143					cell proliferation (GO:0008283)|immune system process (GO:0002376)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			large_intestine(3)|lung(3)	6						CTCTGACCATTGCTTTCCACT	0.502			T	IL2	intestinal T-cell lymphoma																																	ENST00000053243.1				Dom	yes		16	16p13.1	608	T	"""tumor necrosis factor receptor superfamily, member 17"""			L	IL2		intestinal T-cell lymphoma		0				large_intestine(3)|lung(3)	6						c.(427-429)Tgc>Cgc		tumor necrosis factor receptor superfamily, member 17							147.0	121.0	130.0					16																	12061576		2197	4300	6497	SO:0001583	missense	608				cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane		g.chr16:12061576T>C	Z29574	CCDS10552.1	16p13.1	2013-05-22			ENSG00000048462	ENSG00000048462		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11913	protein-coding gene	gene with protein product		109545		BCMA		1396583, 8165126	Standard	NM_001192		Approved	BCM, CD269, TNFRSF13A	uc002dbv.3	Q02223	OTTHUMG00000129826	ENST00000053243.1:c.427T>C	16.37:g.12061576T>C	ENSP00000053243:p.Cys143Arg					RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.C94R	p.C143R	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN			3	645	+			143					Q2TQ40	Missense_Mutation	SNP	ENST00000053243.1	37	c.427T>C	CCDS10552.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894820	0.33442	.	.	ENSG00000048462	ENST00000053243;ENST00000396495	T;T	0.17528	2.95;2.27	5.41	1.81	0.25067	.	0.662221	0.14676	N	0.305018	T	0.11410	0.0278	L	0.29908	0.895	0.27616	N	0.948497	B;B	0.22414	0.069;0.069	B;B	0.23018	0.043;0.021	T	0.22591	-1.0212	10	0.45353	T	0.12	-2.6507	5.8226	0.18536	0.0:0.0856:0.3264:0.5881	.	94;143	Q2TQ40;Q02223	.;TNR17_HUMAN	R	143;94	ENSP00000053243:C143R;ENSP00000379753:C94R	ENSP00000053243:C143R	C	+	1	0	TNFRSF17	11969077	0.120000	0.22244	0.887000	0.34795	0.946000	0.59487	0.165000	0.16564	0.094000	0.17404	0.459000	0.35465	TGC		0.502	TNFRSF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252062.1			15	53	0	0	0	1	0	15	53				
SPATA21	374955	broad.mit.edu	37	1	16731549	16731549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16731549G>A	ENST00000335496.1	-	8	1206	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Nonsense_Mutation_p.Q219*	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	242							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCAGGCTCTGTGCATCCACC	0.552																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(724-726)Cag>Tag		spermatogenesis associated 21							121.0	99.0	106.0					1																	16731549		2203	4300	6503	SO:0001587	stop_gained	374955						calcium ion binding	g.chr1:16731549G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.724C>T	1.37:g.16731549G>A	ENSP00000335612:p.Gln242*					SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Nonsense_Mutation_p.Q219*	p.Q242*	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	8	1206	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	242					B9EK40|F5GXP5	Nonsense_Mutation	SNP	ENST00000335496.1	37	c.724C>T	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758350	0.89843	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	.	.	.	4.53	3.59	0.41128	.	0.527366	0.17642	N	0.166989	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-9.1683	10.508	0.44845	0.0:0.197:0.803:0.0	.	.	.	.	X	242;219	.	ENSP00000335612:Q242X	Q	-	1	0	SPATA21	16604136	0.329000	0.24696	0.889000	0.34880	0.187000	0.23431	3.046000	0.49846	1.215000	0.43411	0.313000	0.20887	CAG		0.552	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		5	44	0	0	0	1	0	5	44				
LMBR1	64327	broad.mit.edu	37	7	156549115	156549115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156549115C>A	ENST00000353442.5	-	9	965	c.729G>T	c.(727-729)gaG>gaT	p.E243D	LMBR1_ENST00000359422.4_Missense_Mutation_p.E91D|LMBR1_ENST00000354505.4_Missense_Mutation_p.E243D|LMBR1_ENST00000540390.1_Missense_Mutation_p.E222D	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	243					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGCTTCTTCCTCTAAGGTAA	0.269																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(727-729)gaG>gaT		limb development membrane protein 1							74.0	80.0	78.0					7																	156549115		2202	4293	6495	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156549115C>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.729G>T	7.37:g.156549115C>A	ENSP00000326604:p.Glu243Asp					LMBR1_ENST00000354505.4_Missense_Mutation_p.E243D|LMBR1_ENST00000540390.1_Missense_Mutation_p.E222D|LMBR1_ENST00000359422.4_Missense_Mutation_p.E91D	p.E243D	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	9	965	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	243					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.729G>T	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873994	0.51695	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.53	0.167	0.15006	LMBR1-like membrane protein (1);	0.048738	0.85682	D	0.000000	T	0.47948	0.1473	M	0.69523	2.12	0.42717	D	0.993666	P;D;P	0.57899	0.58;0.981;0.656	B;P;B	0.56648	0.324;0.803;0.253	T	0.47812	-0.9088	10	0.72032	D	0.01	-14.6322	10.2269	0.43231	0.0:0.5744:0.0:0.4256	.	222;243;243	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	D	243;91;241;243;222	ENSP00000326604:E243D;ENSP00000352392:E91D;ENSP00000408256:E241D;ENSP00000346500:E243D;ENSP00000445509:E222D	ENSP00000326604:E243D	E	-	3	2	LMBR1	156241876	1.000000	0.71417	0.958000	0.39756	0.908000	0.53690	0.958000	0.29227	-0.268000	0.09312	-0.768000	0.03414	GAG		0.269	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		25	107	1	0	2.48779e-11	1	3.09936e-11	25	107				
EOGT	285203	broad.mit.edu	37	3	69053624	69053624	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69053624C>T	ENST00000383701.3	-	8	1267	c.525G>A	c.(523-525)gaG>gaA	p.E175E	EOGT_ENST00000540764.1_Silent_p.E74E|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000295571.5_Silent_p.E175E	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	175					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GGAAAAAGTCCTCCTTAAATC	0.418																																						ENST00000383701.3																			0											c.(523-525)gaG>gaA		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							90.0	85.0	86.0					3																	69053624		2203	4300	6503	SO:0001819	synonymous_variant	285203							g.chr3:69053624C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.525G>A	3.37:g.69053624C>T						EOGT_ENST00000295571.5_Silent_p.E175E|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Silent_p.E74E	p.E175E	NM_001278689.1	NP_001265618.1					8	1267	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.525G>A																																																																																					0.418	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		19	23	0	0	0	1	0	19	23				
PTGER2	5732	broad.mit.edu	37	14	52781701	52781701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52781701G>A	ENST00000245457.5	+	1	589	c.435G>A	c.(433-435)caG>caA	p.Q145Q	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	145					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	ACTTCTACCAGCGCCGCGTCT	0.642																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(433-435)caG>caA		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						57.0	61.0	60.0					14																	52781701		2203	4299	6502	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781701G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.435G>A	14.37:g.52781701G>A						PTGER2_ENST00000557436.1_Intron	p.Q145Q	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	589	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		145					D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.435G>A	CCDS9708.1																																																																																				0.642	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			27	47	0	0	0	1	0	27	47				
FZD9	8326	broad.mit.edu	37	7	72849436	72849436	+	Missense_Mutation	SNP	G	G	A	rs542138331		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72849436G>A	ENST00000344575.3	+	1	1328	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	367					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCCTGCCCGCGCTCAAGAC	0.657													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18110	0.0		0.0	False		,,,				2504	0.0				Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1099-1101)Gcg>Acg		frizzled family receptor 9							40.0	40.0	40.0					7																	72849436		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849436G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1099G>A	7.37:g.72849436G>A	ENSP00000345785:p.Ala367Thr						p.A367T	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1328	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	367						Missense_Mutation	SNP	ENST00000344575.3	37	c.1099G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145516	0.77888	.	.	ENSG00000188763	ENST00000344575	T	0.44881	0.91	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	T	0.65481	0.2695	M	0.78637	2.42	0.51767	D	0.999931	D	0.89917	1.0	D	0.77557	0.99	T	0.72023	-0.4415	10	0.87932	D	0	.	16.0988	0.81152	0.0:0.0:1.0:0.0	.	367	O00144	FZD9_HUMAN	T	367	ENSP00000345785:A367T	ENSP00000345785:A367T	A	+	1	0	FZD9	72487372	1.000000	0.71417	0.967000	0.41034	0.985000	0.73830	8.019000	0.88732	2.105000	0.64084	0.563000	0.77884	GCG		0.657	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			11	38	0	0	0	1	0	11	38				
WDR4	10785	broad.mit.edu	37	21	44283614	44283614	+	Missense_Mutation	SNP	G	G	A	rs566279074	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44283614G>A	ENST00000398208.2	-	4	448	c.389C>T	c.(388-390)tCg>tTg	p.S130L	WDR4_ENST00000330317.2_Missense_Mutation_p.S130L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTCCAGCACCGAAAAGGAGTA	0.592													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18511	0.001		0.0	False		,,,				2504	0.0					ENST00000398208.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(388-390)tCg>tTg		WD repeat domain 4							137.0	117.0	124.0					21																	44283614		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44283614G>A	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.389C>T	21.37:g.44283614G>A	ENSP00000381266:p.Ser130Leu					WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.S130L	p.S130L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	4	448	-			130						Missense_Mutation	SNP	ENST00000398208.2	37	c.389C>T	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749983	0.69533	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.32272	1.46;1.46	4.55	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.289856	0.29139	N	0.013022	T	0.52451	0.1735	M	0.72894	2.215	0.40119	D	0.976576	D;D	0.89917	1.0;0.995	D;P	0.65773	0.938;0.714	T	0.59091	-0.7519	10	0.72032	D	0.01	-1.0166	14.2913	0.66281	0.0:0.0:1.0:0.0	.	130;130	P57081-2;P57081	.;WDR4_HUMAN	L	130	ENSP00000328671:S130L;ENSP00000381266:S130L	ENSP00000328671:S130L	S	-	2	0	WDR4	43156683	1.000000	0.71417	0.067000	0.19924	0.424000	0.31475	7.951000	0.87819	2.115000	0.64714	0.456000	0.33151	TCG		0.592	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			14	24	0	0	0	1	0	14	24				
DNAJA3	9093	broad.mit.edu	37	16	4493049	4493049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4493049G>A	ENST00000262375.6	+	6	892	c.815G>A	c.(814-816)cGt>cAt	p.R272H	DNAJA3_ENST00000431375.2_Missense_Mutation_p.R119H|DNAJA3_ENST00000355296.4_Missense_Mutation_p.R272H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	272					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGTGATGCGTTCCACGTGT	0.502																																						ENST00000262375.6																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(814-816)cGt>cAt		DnaJ (Hsp40) homolog, subfamily A, member 3							125.0	100.0	108.0					16																	4493049		2197	4300	6497	SO:0001583	missense	9093				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding	g.chr16:4493049G>A	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.815G>A	16.37:g.4493049G>A	ENSP00000262375:p.Arg272His					DNAJA3_ENST00000431375.2_Missense_Mutation_p.R119H|DNAJA3_ENST00000355296.4_Missense_Mutation_p.R272H	p.R272H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN			6	892	+			272					B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	c.815G>A	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376890	0.95945	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.65549	-0.16;-0.15;0.83	5.92	4.96	0.65561	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	T	0.82491	-0.0431	10	0.87932	D	0	-12.9548	14.6205	0.68582	0.0708:0.0:0.9292:0.0	.	119;272;272	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	H	272;272;119	ENSP00000262375:R272H;ENSP00000347445:R272H;ENSP00000393970:R119H	ENSP00000262375:R272H	R	+	2	0	DNAJA3	4433050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.804000	0.99143	2.804000	0.96469	0.655000	0.94253	CGT		0.502	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			21	38	0	0	0	1	0	21	38				
DENND3	22898	broad.mit.edu	37	8	142176404	142176404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142176404C>T	ENST00000262585.2	+	12	1707	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*	DENND3_ENST00000519811.1_Nonsense_Mutation_p.Q557*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.Q425*	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	477					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAACCTGCAGGACATTGC	0.642																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1669-1671)Cag>Tag		DENN/MADD domain containing 3							95.0	98.0	97.0					8																	142176404		2203	4300	6503	SO:0001587	stop_gained	22898							g.chr8:142176404C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1429C>T	8.37:g.142176404C>T	ENSP00000262585:p.Gln477*					DENND3_ENST00000424248.1_Nonsense_Mutation_p.Q425*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.Q477*	p.Q557*			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		12	1739	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		477					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Nonsense_Mutation	SNP	ENST00000262585.2	37	c.1669C>T	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.297704|6.297704	0.97453|0.97453	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.369520	.|0.30890	.|N	.|0.008661	T|.	0.71316|.	0.3325|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.74456|.	-0.3659|.	3|.	.|0.38643	.|T	.|0.18	-11.0386|-11.0386	16.2655|16.2655	0.82577|0.82577	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	481|477;425;557	.|.	.|ENSP00000262585:Q477X	A|Q	+|+	2|1	0|0	DENND3|DENND3	142245586|142245586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	3.625000|3.625000	0.54238|0.54238	2.329000|2.329000	0.79093|0.79093	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.642	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		10	114	0	0	0	1	0	10	114				
VSIG1	340547	broad.mit.edu	37	X	107301375	107301375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107301375G>T	ENST00000217957.5	+	2	274	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	VSIG1_ENST00000415430.3_Nonsense_Mutation_p.E53*	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	53	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGCCTCCCGAGAACAGCTTTC	0.468																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(157-159)Gaa>Taa		V-set and immunoglobulin domain containing 1							178.0	131.0	147.0					X																	107301375		2203	4300	6503	SO:0001587	stop_gained	340547					integral to membrane		g.chrX:107301375G>T	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.157G>T	X.37:g.107301375G>T	ENSP00000217957:p.Glu53*					VSIG1_ENST00000217957.5_Nonsense_Mutation_p.E53*	p.E53*	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			2	318	+			53			Ig-like V-type 1.		C9J4P2|Q6MZS4	Nonsense_Mutation	SNP	ENST00000217957.5	37	c.157G>T	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374171	0.42105	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	.	.	.	5.03	1.25	0.21368	.	0.451712	0.22123	N	0.064312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	3.7211	0.08456	0.3149:0.1828:0.5023:0.0	.	.	.	.	X	53	.	ENSP00000217957:E53X	E	+	1	0	VSIG1	107188031	0.016000	0.18221	0.011000	0.14972	0.015000	0.08874	0.679000	0.25291	0.219000	0.20840	-0.190000	0.12839	GAA		0.468	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		27	47	1	0	3.73148e-12	1	4.68205e-12	27	47				
SMC4	10051	broad.mit.edu	37	3	160149499	160149499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160149499G>T	ENST00000357388.3	+	21	3634	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D	SMC4_ENST00000360111.2_Missense_Mutation_p.E1003D|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E1061D|SMC4_ENST00000462787.1_Missense_Mutation_p.E1003D|SMC4_ENST00000469762.1_Missense_Mutation_p.E1036D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1061					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAGCCCAGAGGATCTTGAAG	0.388																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3181-3183)gaG>gaT		structural maintenance of chromosomes 4							52.0	58.0	56.0					3																	160149499		2203	4299	6502	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160149499G>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3183G>T	3.37:g.160149499G>T	ENSP00000349961:p.Glu1061Asp					SMC4_ENST00000360111.2_Missense_Mutation_p.E1003D|SMC4_ENST00000469762.1_Missense_Mutation_p.E1036D|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E1061D|SMC4_ENST00000462787.1_Missense_Mutation_p.E1003D	p.E1061D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		21	3634	+			1061					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3183G>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345664	0.41498	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78481	-1.0;-1.18;-1.0;-1.18;-1.0	5.85	2.96	0.34315	RecF/RecN/SMC (1);	0.307523	0.39687	N	0.001283	T	0.63094	0.2482	L	0.33485	1.01	0.47153	D	0.999331	B;B;B;B	0.17465	0.008;0.001;0.001;0.022	B;B;B;B	0.20955	0.014;0.03;0.003;0.032	T	0.49969	-0.8882	10	0.26408	T	0.33	-4.4476	6.1622	0.20370	0.2827:0.0:0.5973:0.12	.	1003;1036;1036;1061	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	D	1061;1003;1036;1003;1061;655	ENSP00000349961:E1061D;ENSP00000353225:E1003D;ENSP00000417964:E1036D;ENSP00000420734:E1003D;ENSP00000341382:E1061D	ENSP00000341382:E1061D	E	+	3	2	SMC4	161632193	0.947000	0.32204	1.000000	0.80357	0.998000	0.95712	0.001000	0.13038	0.318000	0.23185	0.655000	0.94253	GAG		0.388	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			5	65	1	0	0.000602214	1	0.000649039	5	65				
MUC4	4585	broad.mit.edu	37	3	195516511	195516511	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195516511T>C	ENST00000463781.3	-	2	2399	c.1940A>G	c.(1939-1941)cAa>cGa	p.Q647R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q647R|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	652					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGTGATTCTTGTGTGGTCTG	0.532																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1939-1941)cAa>cGa		mucin 4, cell surface associated							249.0	259.0	256.0					3																	195516511		2075	4202	6277	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516511T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1940A>G	3.37:g.195516511T>C	ENSP00000417498:p.Gln647Arg					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q647R|MUC4_ENST00000346145.4_Intron	p.Q647R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2399	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	652					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1940A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.571	-0.299538	0.05532	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.42900	0.96;0.98	3.01	-6.02	0.02192	.	2.753150	0.01535	N	0.018966	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.0	B;B	0.08055	0.003;0.0	T	0.17653	-1.0362	10	0.16420	T	0.52	1.6136	3.2315	0.06750	0.1169:0.3533:0.3548:0.1749	.	647;652	E7ESK3;Q99102	.;MUC4_HUMAN	R	647;647;621	ENSP00000417498:Q647R;ENSP00000420243:Q647R	ENSP00000376209:Q621R	Q	-	2	0	MUC4	197000906	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.133000	0.01308	-3.191000	0.00219	-0.309000	0.09137	CAA		0.532	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		57	93	0	0	0	1	0	57	93				
GPR32	2854	broad.mit.edu	37	19	51274083	51274083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274083G>A	ENST00000270590.4	+	1	363	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	76					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCACGCACGGTCTCCACCGT	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(226-228)Gtc>Atc		G protein-coupled receptor 32							206.0	157.0	174.0					19																	51274083		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274083G>A	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.226G>A	19.37:g.51274083G>A	ENSP00000270590:p.Val76Ile						p.V76I	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	363	+		all_neural(266;0.131)	76					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.226G>A	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557843	0.45590	.	.	ENSG00000142511	ENST00000270590	T	0.38722	1.12	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.62539	0.2436	M	0.79475	2.455	0.37756	D	0.926132	D	0.89917	1.0	D	0.97110	1.0	T	0.70666	-0.4809	9	0.72032	D	0.01	.	11.6248	0.51138	0.0:0.0:1.0:0.0	.	76	O75388	GPR32_HUMAN	I	76	ENSP00000270590:V76I	ENSP00000270590:V76I	V	+	1	0	GPR32	55965895	1.000000	0.71417	0.042000	0.18584	0.262000	0.26303	3.299000	0.51826	1.457000	0.47850	0.313000	0.20887	GTC		0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			15	27	0	0	0	1	0	15	27				
HEATR1	55127	broad.mit.edu	37	1	236738000	236738000	+	Silent	SNP	G	G	A	rs145524497		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236738000G>A	ENST00000366582.3	-	23	3402	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1096					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCATTCCCGCGTAAAGTTCCT	0.383																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(3286-3288)taC>taT		HEAT repeat containing 1		G		0,4404		0,0,2202	81.0	85.0	84.0		3288	3.0	0.0	1	dbSNP_134	84	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	HEATR1	NM_018072.5		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		1096/2145	236738000	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236738000G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3288C>T	1.37:g.236738000G>A						HEATR1_ENST00000366581.2_Intron	p.Y1096Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		23	3402	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1096					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.3288C>T	CCDS31066.1																																																																																				0.383	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		57	52	0	0	0	1	0	57	52				
WDR16	146845	broad.mit.edu	37	17	9536300	9536300	+	Missense_Mutation	SNP	G	G	A	rs576284692		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9536300G>A	ENST00000352665.5	+	10	1339	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR16_ENST00000299764.5_Missense_Mutation_p.A434T|WDR16_ENST00000396219.3_Missense_Mutation_p.A356T|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CACCGCCATCGCCACCACCAG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17618	0.0		0.0	False		,,,				2504	0.0					ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1270-1272)Gcc>Acc		WD repeat domain 16							71.0	63.0	66.0					17																	9536300		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9536300G>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1270G>A	17.37:g.9536300G>A	ENSP00000339449:p.Ala424Thr					WDR16_ENST00000299764.5_Missense_Mutation_p.A434T|WDR16_ENST00000396219.3_Missense_Mutation_p.A356T|WDR16_ENST00000576714.1_3'UTR	p.A424T	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			10	1339	+			424						Missense_Mutation	SNP	ENST00000352665.5	37	c.1270G>A	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914804	0.72983	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.63744	-0.06;-0.06;-0.06	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.935;0.958;0.967	T	0.78388	-0.2223	10	0.31617	T	0.26	-19.3845	16.8592	0.86013	0.0:0.0:1.0:0.0	.	434;356;424	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	T	424;356;434	ENSP00000339449:A424T;ENSP00000379521:A356T;ENSP00000299764:A434T	ENSP00000299764:A434T	A	+	1	0	WDR16	9477025	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.313000	0.59160	2.242000	0.73789	0.462000	0.41574	GCC		0.512	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		5	50	0	0	0	1	0	5	50				
STAU1	6780	broad.mit.edu	37	20	47736634	47736634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47736634G>A	ENST00000371856.2	-	9	1408	c.998C>T	c.(997-999)aCg>aTg	p.T333M	STAU1_ENST00000340954.7_Missense_Mutation_p.T252M|STAU1_ENST00000360426.4_Missense_Mutation_p.T252M|STAU1_ENST00000371802.1_Missense_Mutation_p.T258M|STAU1_ENST00000371792.1_Missense_Mutation_p.T250M|STAU1_ENST00000371828.3_Missense_Mutation_p.T258M|STAU1_ENST00000347458.5_Missense_Mutation_p.T252M	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	333	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTGGTGCCCGTTCCTTCTGC	0.527																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(772-774)aCg>aTg		staufen double-stranded RNA binding protein 1							119.0	83.0	95.0					20																	47736634		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47736634G>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.998C>T	20.37:g.47736634G>A	ENSP00000360922:p.Thr333Met					STAU1_ENST00000340954.7_Missense_Mutation_p.T252M|STAU1_ENST00000347458.5_Missense_Mutation_p.T252M|STAU1_ENST00000371856.2_Missense_Mutation_p.T333M|STAU1_ENST00000371792.1_Missense_Mutation_p.T250M|STAU1_ENST00000360426.4_Missense_Mutation_p.T252M|STAU1_ENST00000371802.1_Missense_Mutation_p.T258M	p.T258M	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		9	1260	-			333					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.773C>T	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	8.198	0.797487	0.16327	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.81	2.25	0.28309	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.610988	0.18183	N	0.149079	T	0.50769	0.1635	L	0.59912	1.85	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.16289	0.015;0.003	T	0.35126	-0.9801	10	0.27785	T	0.31	1.3971	4.6552	0.12613	0.3052:0.1752:0.5197:0.0	.	333;258	O95793;Q5JW29	STAU1_HUMAN;.	M	258;252;333;252;252;252;258;250	ENSP00000360893:T258M;ENSP00000345425:T252M;ENSP00000360922:T333M;ENSP00000353604:T252M;ENSP00000323443:T252M;ENSP00000360867:T258M;ENSP00000360857:T250M	ENSP00000345425:T252M	T	-	2	0	STAU1	47170041	0.986000	0.35501	0.002000	0.10522	0.605000	0.37080	4.026000	0.57232	0.758000	0.33059	0.650000	0.86243	ACG		0.527	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		4	37	0	0	0	1	0	4	37				
CMPK1	51727	broad.mit.edu	37	1	47834233	47834233	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47834233C>T	ENST00000371873.5	+	2	413	c.264C>T	c.(262-264)taC>taT	p.Y88Y	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						TTGAAAAGTACATTAAAGAAG	0.403																																						ENST00000371873.5																			0				endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						c.(262-264)taC>taT		cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	Gemcitabine(DB00441)						117.0	105.0	109.0					1																	47834233		2203	4300	6503	SO:0001819	synonymous_variant	51727				nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	g.chr1:47834233C>T	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.264C>T	1.37:g.47834233C>T						CMPK1_ENST00000450808.2_Intron	p.Y88Y	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN			2	413	+			56						Silent	SNP	ENST00000371873.5	37	c.264C>T	CCDS549.1																																																																																				0.403	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308		20	44	0	0	0	1	0	20	44				
LRRC23	10233	broad.mit.edu	37	12	7015617	7015617	+	Missense_Mutation	SNP	G	G	A	rs376384986		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7015617G>A	ENST00000007969.8	+	4	501	c.281G>A	c.(280-282)cGc>cAc	p.R94H	LRRC23_ENST00000436789.1_Missense_Mutation_p.R94H|LRRC23_ENST00000323702.5_Missense_Mutation_p.R94H|LRRC23_ENST00000443597.2_Missense_Mutation_p.R94H|LRRC23_ENST00000429740.1_Missense_Mutation_p.R94H|LRRC23_ENST00000433346.1_Missense_Mutation_p.R94H|LRRC23_ENST00000449039.1_3'UTR	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	94										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATCCATCTGCGCTATGTGGAT	0.527																																						ENST00000007969.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(280-282)cGc>cAc		leucine rich repeat containing 23		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	341.0	341.0	341.0		281,281,281	5.9	1.0	12		341	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	LRRC23	NM_001135217.1,NM_006992.3,NM_201650.2	29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	94/344,94/313,94/344	7015617	2,13004	2203	4300	6503	SO:0001583	missense	10233							g.chr12:7015617G>A	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.281G>A	12.37:g.7015617G>A	ENSP00000007969:p.Arg94His					LRRC23_ENST00000436789.1_Missense_Mutation_p.R94H|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000323702.5_Missense_Mutation_p.R94H|LRRC23_ENST00000443597.2_Missense_Mutation_p.R94H|LRRC23_ENST00000429740.1_Missense_Mutation_p.R94H|LRRC23_ENST00000433346.1_Missense_Mutation_p.R94H	p.R94H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN			4	501	+			94					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.281G>A	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429613	0.96131	0.0	2.33E-4	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.60424	1.85;1.62;2.04;1.62;0.19;2.02;1.27	5.93	5.93	0.95920	.	.	.	.	.	T	0.80513	0.4637	M	0.86178	2.8	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	0.91635	0.992;0.996;0.999;0.996;0.995;0.999	T	0.81722	-0.0803	9	0.66056	D	0.02	-16.3618	20.3437	0.98782	0.0:0.0:1.0:0.0	.	94;94;94;94;94;94	E9PDZ4;C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;.;LRC23_HUMAN;.	H	94	ENSP00000402554:R94H;ENSP00000007969:R94H;ENSP00000317464:R94H;ENSP00000390932:R94H;ENSP00000408066:R94H;ENSP00000396049:R94H;ENSP00000397192:R94H	ENSP00000007969:R94H	R	+	2	0	LRRC23	6885878	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.390000	0.90175	2.815000	0.96918	0.561000	0.74099	CGC		0.527	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		206	245	0	0	0	1	0	206	245				
OR13G1	441933	broad.mit.edu	37	1	247836181	247836181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836181G>A	ENST00000359688.2	-	1	184	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATACATGGGCGTATGCAAG	0.423																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(163-165)Ccc>Tcc		olfactory receptor, family 13, subfamily G, member 1							90.0	70.0	77.0					1																	247836181		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836181G>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.163C>T	1.37:g.247836181G>A	ENSP00000352717:p.Pro55Ser					RP11-634B7.4_ENST00000449298.1_RNA	p.P55S	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	184	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		55					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.163C>T	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239021	0.58995	.	.	ENSG00000197437	ENST00000359688	T	0.02015	4.5	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000750	T	0.11965	0.0291	M	0.92738	3.34	0.47584	D	0.999462	D	0.56035	0.974	P	0.52343	0.696	T	0.01725	-1.1287	10	0.72032	D	0.01	-58.2817	14.7067	0.69198	0.0:0.0:1.0:0.0	.	55	Q8NGZ3	O13G1_HUMAN	S	55	ENSP00000352717:P55S	ENSP00000352717:P55S	P	-	1	0	OR13G1	245902804	1.000000	0.71417	0.942000	0.38095	0.061000	0.15899	6.571000	0.74000	2.395000	0.81488	0.650000	0.86243	CCC		0.423	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		26	19	0	0	0	1	0	26	19				
POLR2B	5431	broad.mit.edu	37	4	57887151	57887151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57887151G>A	ENST00000381227.1	+	18	2823	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	POLR2B_ENST00000441246.2_Missense_Mutation_p.G797S|POLR2B_ENST00000314595.5_Missense_Mutation_p.G804S|POLR2B_ENST00000431623.2_Missense_Mutation_p.G729S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	804					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.G804S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTAGACCGCGGCTTCTTCAG	0.348																																						ENST00000381227.1																			1	Substitution - Missense(1)	p.G804S(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2410-2412)Ggc>Agc		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							105.0	97.0	99.0					4																	57887151		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57887151G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2410G>A	4.37:g.57887151G>A	ENSP00000370625:p.Gly804Ser					POLR2B_ENST00000314595.5_Missense_Mutation_p.G804S|POLR2B_ENST00000441246.2_Missense_Mutation_p.G797S|POLR2B_ENST00000431623.2_Missense_Mutation_p.G729S	p.G804S			P30876	RPB2_HUMAN			18	2823	+	Glioma(25;0.08)|all_neural(26;0.181)		804					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2410G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533716	0.85812	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.104089	0.64402	D	0.000003	D	0.94079	0.8102	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.97110	0.902;1.0	D	0.96454	0.9336	10	0.87932	D	0	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	729;804	C9J4M6;P30876	.;RPB2_HUMAN	S	804;729;797;804	ENSP00000370625:G804S;ENSP00000391096:G729S;ENSP00000391452:G797S;ENSP00000312735:G804S	ENSP00000312735:G804S	G	+	1	0	POLR2B	57581908	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	9.731000	0.98807	2.657000	0.90304	0.655000	0.94253	GGC		0.348	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		26	54	0	0	0	1	0	26	54				
MAP2K5	5607	broad.mit.edu	37	15	67985893	67985893	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67985893A>C	ENST00000178640.5	+	15	1586	c.959A>C	c.(958-960)aAt>aCt	p.N320T	MAP2K5_ENST00000395476.2_Missense_Mutation_p.N320T|MAP2K5_ENST00000354498.5_Missense_Mutation_p.N284T|MAP2K5_ENST00000340972.4_Missense_Mutation_p.N130T	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GTTGGAACAAATGCTTATATG	0.294																																						ENST00000178640.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						c.(958-960)aAt>aCt		mitogen-activated protein kinase kinase 5							139.0	133.0	135.0					15																	67985893		2200	4296	6496	SO:0001583	missense	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:67985893A>C	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.959A>C	15.37:g.67985893A>C	ENSP00000178640:p.Asn320Thr					MAP2K5_ENST00000354498.5_Missense_Mutation_p.N284T|MAP2K5_ENST00000340972.4_Missense_Mutation_p.N130T|MAP2K5_ENST00000395476.2_Missense_Mutation_p.N320T	p.N320T	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN			15	1586	+			320			Protein kinase.		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	c.959A>C	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892204	0.52014	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	N	0.04724	-0.175	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.986;0.982;0.999	T	0.43637	-0.9379	10	0.46703	T	0.11	-24.1841	15.7334	0.77822	1.0:0.0:0.0:0.0	.	130;320;320	A6NK28;Q13163-2;Q13163	.;.;MP2K5_HUMAN	T	320;320;320;284;130	ENSP00000378859:N320T;ENSP00000178640:N320T;ENSP00000346493:N284T;ENSP00000342101:N130T	ENSP00000178640:N320T	N	+	2	0	MAP2K5	65772947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.486000	0.90451	2.124000	0.65301	0.477000	0.44152	AAT		0.294	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		6	54	0	0	0	1	0	6	54				
IL7R	3575	broad.mit.edu	37	5	35873728	35873728	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35873728T>A	ENST00000303115.3	+	5	813	c.684T>A	c.(682-684)acT>acA	p.T228T	IL7R_ENST00000343305.4_Silent_p.T228T|IL7R_ENST00000506850.1_Silent_p.T228T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	228	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTCAGAACTCCAGAGATCA	0.423			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(682-684)acT>acA		interleukin 7 receptor							101.0	96.0	98.0					5																	35873728		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35873728T>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.684T>A	5.37:g.35873728T>A						IL7R_ENST00000506850.1_Silent_p.T228T|IL7R_ENST00000343305.4_Silent_p.T228T	p.T228T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		5	813	+	all_lung(31;0.00015)		228					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.684T>A	CCDS3911.1																																																																																				0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			10	88	0	0	0	1	0	10	88				
NLRC4	58484	broad.mit.edu	37	2	32475470	32475470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32475470C>T	ENST00000404025.2	-	5	1951	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	NLRC4_ENST00000402280.1_Missense_Mutation_p.S488N|NLRC4_ENST00000360906.5_Missense_Mutation_p.S488N|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	488					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGCAGGCTGCTATAAGTGGA	0.512																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1462-1464)aGc>aAc		NLR family, CARD domain containing 4							70.0	67.0	68.0					2																	32475470		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475470C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1463G>A	2.37:g.32475470C>T	ENSP00000385090:p.Ser488Asn					NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.S488N|NLRC4_ENST00000360906.5_Missense_Mutation_p.S488N	p.S488N			Q9NPP4	NLRC4_HUMAN			5	1951	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		488					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1463G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.242115	0.00274	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.11495	2.77;2.77;2.77	3.4	3.4	0.38934	.	0.463681	0.19217	N	0.119765	T	0.05960	0.0155	L	0.36672	1.1	0.23906	N	0.996504	B	0.33694	0.421	B	0.24006	0.05	T	0.09707	-1.0662	9	0.11485	T	0.65	.	5.471	0.16670	0.0:0.7597:0.0:0.2403	.	488	Q9NPP4	NLRC4_HUMAN	N	488	ENSP00000354159:S488N;ENSP00000385428:S488N;ENSP00000385090:S488N	ENSP00000354159:S488N	S	-	2	0	NLRC4	32328974	0.517000	0.26226	0.671000	0.29857	0.143000	0.21401	1.024000	0.30077	1.923000	0.55706	0.543000	0.68304	AGC		0.512	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		19	37	0	0	0	1	0	19	37				
CHRNA3	1136	broad.mit.edu	37	15	78893832	78893832	+	Silent	SNP	G	G	A	rs76643872		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78893832G>A	ENST00000326828.5	-	5	1536	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	CHRNA3_ENST00000348639.3_Silent_p.S384S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	384					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	ACTCTGCGCGGCTGAAGCAAT	0.567																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1150-1152)agC>agT		cholinergic receptor, nicotinic, alpha 3 (neuronal)							73.0	68.0	70.0					15																	78893832		2196	4293	6489	SO:0001819	synonymous_variant	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893832G>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1152C>T	15.37:g.78893832G>A						CHRNA3_ENST00000348639.3_Silent_p.S384S	p.S384S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1536	-			384					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	c.1152C>T	CCDS10305.1																																																																																				0.567	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			33	52	0	0	0	1	0	33	52				
TTN	7273	broad.mit.edu	37	2	179583670	179583670	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179583670G>T	ENST00000591111.1	-	82	23530	c.23306C>A	c.(23305-23307)tCt>tAt	p.S7769Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6842Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S8086Y|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13303	Ig-like 60.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCCACAGAATCAGGGGT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24256-24258)tCt>tAt		titin							62.0	58.0	59.0					2																	179583670		1884	4114	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583670G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23306C>A	2.37:g.179583670G>T	ENSP00000465570:p.Ser7769Tyr					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6842Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S7769Y	p.S8086Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	24481	-			7769			Ig-like 63.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24257C>A		.	.	.	.	.	.	.	.	.	.	G	10.69	1.422505	0.25639	.	.	ENSG00000155657	ENST00000342992	T	0.46451	0.87	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60301	0.2258	M	0.66297	2.02	0.80722	D	1	P	0.48589	0.912	P	0.54629	0.757	T	0.61028	-0.7145	9	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	7769	Q8WZ42	TITIN_HUMAN	Y	6842	ENSP00000343764:S6842Y	ENSP00000343764:S6842Y	S	-	2	0	TTN	179291915	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	9.813000	0.99286	2.861000	0.98227	0.650000	0.86243	TCT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	10	1	0	2.80697e-09	1	3.39963e-09	11	10				
EI24	9538	broad.mit.edu	37	11	125452284	125452284	+	Missense_Mutation	SNP	C	C	T	rs201075869		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125452284C>T	ENST00000343678.4	+	9	958	c.716C>T	c.(715-717)gCg>gTg	p.A239V	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000278903.6_Silent_p.S276S|STT3A-AS1_ENST00000532714.1_RNA	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	0					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCATTATCAGCGCCAATGAAG	0.368																																						ENST00000343678.4																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(715-717)gCg>gTg		etoposide induced 2.4		C	,VAL/ALA	0,3630		0,0,1815	36.0	34.0	34.0		828,716	4.5	1.0	11		34	17,8121		0,17,4052	yes	coding-synonymous,missense	EI24	NM_004879.3,NM_001007277.1	,64	0,17,5867	TT,TC,CC		0.2089,0.0,0.1445	,benign	276/341,239/263	125452284	17,11751	1815	4069	5884	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125452284C>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000343678.4:c.716C>T	11.37:g.125452284C>T	ENSP00000364081:p.Ala239Val					EI24_ENST00000530985.1_3'UTR|EI24_ENST00000278903.6_Silent_p.S276S|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	p.A239V	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	9	958	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	94					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000343678.4	37	c.716C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.171314	0.78452	0.0	0.002089	ENSG00000149547	ENST00000343678	.	.	.	5.39	4.47	0.54385	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.24833	N	0.992516	B	0.17852	0.024	B	0.10450	0.005	T	0.16571	-1.0398	7	0.35671	T	0.21	.	9.6919	0.40134	0.0:0.8368:0.0:0.1632	.	239	A6NES3	.	V	239	.	ENSP00000364081:A239V	A	+	2	0	EI24	124957494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.085000	0.30840	1.256000	0.44068	0.557000	0.71058	GCG		0.368	EI24-202	KNOWN	basic	protein_coding	protein_coding		NM_004879		3	5	0	0	0	1	0	3	5				
APBB2	323	broad.mit.edu	37	4	40823961	40823961	+	Missense_Mutation	SNP	C	C	T	rs371307741		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40823961C>T	ENST00000295974.8	-	17	2665	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	APBB2_ENST00000506352.1_Missense_Mutation_p.R658H|APBB2_ENST00000543538.1_Missense_Mutation_p.R131H|APBB2_ENST00000508593.1_Missense_Mutation_p.R680H|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.R131H|APBB2_ENST00000502841.1_Missense_Mutation_p.R131H|APBB2_ENST00000513140.1_Missense_Mutation_p.R657H	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	679	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCACTCAAAGCGCTGGTTCCC	0.552																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(2035-2037)cGc>cAc		amyloid beta (A4) precursor protein-binding, family B, member 2		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4227		0,1,2113	79.0	85.0	83.0		2036,392,392,392,392,2039,1970	2.1	1.0	4		83	0,8418		0,0,4209	no	missense,missense,missense,missense,missense,missense,missense	APBB2	NM_001166050.1,NM_001166051.1,NM_001166052.1,NM_001166053.1,NM_001166054.1,NM_004307.1,NM_173075.4	29,29,29,29,29,29,29	0,1,6322	TT,TC,CC		0.0,0.0237,0.0079	benign,benign,benign,benign,benign,benign,benign	679/759,131/211,131/211,131/211,131/211,680/760,657/737	40823961	1,12645	2114	4209	6323	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40823961C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.2036G>A	4.37:g.40823961C>T	ENSP00000295974:p.Arg679His					APBB2_ENST00000543538.1_Missense_Mutation_p.R131H|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.R131H|APBB2_ENST00000513140.1_Missense_Mutation_p.R657H|APBB2_ENST00000502841.1_Missense_Mutation_p.R131H|APBB2_ENST00000508593.1_Missense_Mutation_p.R680H|APBB2_ENST00000506352.1_Missense_Mutation_p.R658H	p.R679H	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			17	2665	-			679			PID 2.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.2036G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628546	0.46944	2.37E-4	0.0	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305	T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03	5.85	2.11	0.27256	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.234953	0.48286	N	0.000192	T	0.06096	0.0158	N	0.00926	-1.1	0.31589	N	0.654121	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.003	T	0.09729	-1.0661	10	0.38643	T	0.18	-10.0608	7.087	0.25264	0.0:0.476:0.0:0.524	.	680;657;679	E9PG87;Q92870-2;Q92870	.;.;APBB2_HUMAN	H	679;678;131;657;680;131;658;131	ENSP00000295974:R679H;ENSP00000439357:R131H;ENSP00000426018:R657H;ENSP00000427211:R680H;ENSP00000425802:R131H;ENSP00000421539:R658H;ENSP00000423765:R131H	ENSP00000295974:R679H	R	-	2	0	APBB2	40518718	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.937000	0.28951	0.784000	0.33661	0.655000	0.94253	CGC		0.552	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		22	30	0	0	0	1	0	22	30				
UNC13B	10497	broad.mit.edu	37	9	35396556	35396556	+	Missense_Mutation	SNP	C	C	T	rs151027172	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396556C>T	ENST00000378495.3	+	26	3367	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1049W|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1061W	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1049	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAATACGTGCGGGATCTGCC	0.552																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3145-3147)Cgg>Tgg		unc-13 homolog B (C. elegans)		C	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	107.0	89.0	95.0		3145	4.8	0.2	9	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UNC13B	NM_006377.3	101	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging	1049/1592	35396556	5,13001	2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35396556C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3145C>T	9.37:g.35396556C>T	ENSP00000367756:p.Arg1049Trp					UNC13B_ENST00000396787.1_Missense_Mutation_p.R1061W|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1049W	p.R1049W	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		26	3367	+	all_epithelial(49;0.212)		1049			MHD1.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.3145C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500901	0.64298	9.08E-4	1.16E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84730	-1.76;-1.69;-1.89	5.66	4.76	0.60689	Munc13 homology 1 (1);	0.523790	0.23100	N	0.051936	D	0.82379	0.5024	L	0.36672	1.1	0.30541	N	0.766439	D;D	0.71674	0.998;0.997	P;P	0.50192	0.613;0.634	T	0.81581	-0.0867	10	0.72032	D	0.01	-0.3098	9.6012	0.39605	0.0:0.7588:0.1289:0.1123	.	1049;1049	F8W8M9;O14795	.;UN13B_HUMAN	W	1061;1049;1049;636	ENSP00000380006:R1061W;ENSP00000367756:R1049W;ENSP00000367757:R1049W	ENSP00000367756:R1049W	R	+	1	2	UNC13B	35386556	0.004000	0.15560	0.225000	0.23894	0.885000	0.51271	1.116000	0.31221	1.381000	0.46364	0.557000	0.71058	CGG		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		19	28	0	0	0	1	0	19	28				
POLR1A	25885	broad.mit.edu	37	2	86258711	86258711	+	Silent	SNP	G	G	A	rs201493508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86258711G>A	ENST00000263857.6	-	30	4698	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N	POLR1A_ENST00000409681.1_Silent_p.N1440N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1440					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						cttcatcgtcgttctcctcgc	0.557																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4318-4320)aaC>aaT		polymerase (RNA) I polypeptide A, 194kDa							189.0	180.0	183.0					2																	86258711		2142	4229	6371	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258711G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4320C>T	2.37:g.86258711G>A						POLR1A_ENST00000409681.1_Silent_p.N1440N	p.N1440N			O95602	RPA1_HUMAN			30	4698	-			1440					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.4320C>T	CCDS42706.1																																																																																				0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		25	31	0	0	0	1	0	25	31				
LRRC8A	56262	broad.mit.edu	37	9	131671556	131671556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131671556G>A	ENST00000259324.5	+	3	2636	c.2113G>A	c.(2113-2115)Ggc>Agc	p.G705S	LRRC8A_ENST00000372599.3_Missense_Mutation_p.G705S|LRRC8A_ENST00000372600.4_Missense_Mutation_p.G705S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	705					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCCGACATCGGCCTCCTGCA	0.642																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(2113-2115)Ggc>Agc		leucine rich repeat containing 8 family, member A							65.0	67.0	67.0					9																	131671556		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671556G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2113G>A	9.37:g.131671556G>A	ENSP00000259324:p.Gly705Ser					LRRC8A_ENST00000372599.3_Missense_Mutation_p.G705S|LRRC8A_ENST00000372600.4_Missense_Mutation_p.G705S	p.G705S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2636	+			705					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2113G>A	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892651	0.33442	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.24151	1.87;1.87;1.87	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.50919	1.6	0.80722	D	1	D	0.69078	0.997	P	0.51550	0.673	T	0.09487	-1.0672	10	0.66056	D	0.02	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	705	Q8IWT6	LRC8A_HUMAN	S	705	ENSP00000361682:G705S;ENSP00000361680:G705S;ENSP00000259324:G705S	ENSP00000259324:G705S	G	+	1	0	LRRC8A	130711377	1.000000	0.71417	0.981000	0.43875	0.269000	0.26545	7.849000	0.86908	2.677000	0.91161	0.561000	0.74099	GGC		0.642	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		24	25	0	0	0	1	0	24	25				
THAP9	79725	broad.mit.edu	37	4	83826058	83826058	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83826058G>A	ENST00000302236.5	+	2	301	c.250G>A	c.(250-252)Gct>Act	p.A84T		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	84					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GAAAAAAGGAGCTGTGCCTTC	0.353																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(250-252)Gct>Act		THAP domain containing 9							73.0	75.0	74.0					4																	83826058		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83826058G>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.250G>A	4.37:g.83826058G>A	ENSP00000305533:p.Ala84Thr						p.A84T	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			2	301	+		Hepatocellular(203;0.114)	84					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.250G>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510861	0.64522	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.97378	-4.36	3.71	-0.00395	0.14024	Zinc finger, C2CH-type (4);	0.472677	0.18008	N	0.154672	D	0.95711	0.8605	M	0.90650	3.135	0.23192	N	0.998143	B	0.17852	0.024	B	0.19148	0.024	D	0.89625	0.3851	9	.	.	.	-4.6857	4.1767	0.10355	0.2822:0.0:0.5572:0.1606	.	84	Q9H5L6	THAP9_HUMAN	T	84	ENSP00000305533:A84T	.	A	+	1	0	THAP9	84045082	1.000000	0.71417	0.978000	0.43139	0.880000	0.50808	0.436000	0.21526	-0.046000	0.13446	-0.143000	0.13931	GCT		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		29	48	0	0	0	1	0	29	48				
MARC1	64757	broad.mit.edu	37	1	220971352	220971352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220971352C>T	ENST00000366910.5	+	4	935	c.749C>T	c.(748-750)gCa>gTa	p.A250V	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	250	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										GATGTCTATGCAGAGGTAACA	0.428																																						ENST00000366910.5																			0											c.(748-750)gCa>gTa		mitochondrial amidoxime reducing component 1							168.0	168.0	168.0					1																	220971352		2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220971352C>T	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.749C>T	1.37:g.220971352C>T	ENSP00000355877:p.Ala250Val					MARC1_ENST00000496110.1_3'UTR	p.A250V	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN			4	935	+			250			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.749C>T	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821141	0.32237	.	.	ENSG00000186205	ENST00000366910;ENST00000443880	T;T	0.24908	1.83;1.83	4.65	2.36	0.29203	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.173757	0.38217	N	0.001779	T	0.38665	0.1049	M	0.68317	2.08	0.35048	D	0.760338	B;P	0.34699	0.1;0.464	B;P	0.48334	0.139;0.574	T	0.55964	-0.8057	10	0.66056	D	0.02	-29.3209	11.1766	0.48603	0.6709:0.3291:0.0:0.0	.	250;250	Q5VT66-2;Q5VT66	.;MOSC1_HUMAN	V	250;63	ENSP00000355877:A250V;ENSP00000409634:A63V	ENSP00000355877:A250V	A	+	2	0	MOSC1	219037975	0.292000	0.24362	0.973000	0.42090	0.349000	0.29174	0.716000	0.25836	1.012000	0.39366	0.591000	0.81541	GCA		0.428	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		10	204	0	0	0	1	0	10	204				
PRMT9	90826	broad.mit.edu	37	4	148579097	148579097	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148579097A>T	ENST00000322396.6	-	8	1418	c.1176T>A	c.(1174-1176)ccT>ccA	p.P392P	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Silent_p.P279P	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		392	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAATCTTATCAGGCTTTTTAG	0.328																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1174-1176)ccT>ccA		protein arginine methyltransferase 10 (putative)							56.0	50.0	52.0					4																	148579097		2203	4299	6502	SO:0001819	synonymous_variant	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148579097A>T																												ENST00000322396.6:c.1176T>A	4.37:g.148579097A>T						PRMT10_ENST00000541232.1_Silent_p.P279P|TMEM184C_ENST00000508208.1_Intron	p.P392P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			8	1418	-			392					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	c.1176T>A	CCDS3771.1																																																																																				0.328	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			5	18	0	0	0	1	0	5	18				
PTPRA	5786	broad.mit.edu	37	20	2945784	2945784	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2945784A>C	ENST00000216877.6	+	5	751	c.351A>C	c.(349-351)agA>agC	p.R117S	PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000380393.3_Missense_Mutation_p.R117S|PTPRA_ENST00000399903.2_Missense_Mutation_p.R117S|PTPRA_ENST00000425918.2_Missense_Mutation_p.R128S|PTPRA_ENST00000318266.5_Missense_Mutation_p.R117S|PTPRA_ENST00000356147.3_Missense_Mutation_p.R117S	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	117					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGATGCCAGAACAGAACCCT	0.468																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(349-351)agA>agC		protein tyrosine phosphatase, receptor type, A							91.0	99.0	96.0					20																	2945784		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2945784A>C		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.351A>C	20.37:g.2945784A>C	ENSP00000216877:p.Arg117Ser					PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000356147.3_Missense_Mutation_p.R117S|PTPRA_ENST00000380393.3_Missense_Mutation_p.R117S|PTPRA_ENST00000425918.2_Missense_Mutation_p.R128S|PTPRA_ENST00000399903.2_Missense_Mutation_p.R117S|PTPRA_ENST00000318266.5_Missense_Mutation_p.R117S	p.R117S	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			5	751	+			117					A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.351A>C	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674888	0.29783	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000431048;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T;T	0.50548	3.95;0.96;3.99;3.95;0.74;3.95;3.99;0.91;3.99	5.52	-3.22	0.05125	.	1.196250	0.06200	U	0.683180	T	0.21427	0.0516	N	0.14661	0.345	0.21675	N	0.999597	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16129	-1.0413	10	0.09338	T	0.73	.	1.4742	0.02422	0.2468:0.3158:0.2967:0.1408	.	128;117	B7Z2A4;P18433-4	.;.	S	117;117;117;117;117;117;128;117;117;117	ENSP00000369756:R117S;ENSP00000414089:R117S;ENSP00000216877:R117S;ENSP00000382787:R117S;ENSP00000390775:R117S;ENSP00000393553:R128S;ENSP00000314568:R117S;ENSP00000394132:R117S;ENSP00000348468:R117S	ENSP00000216877:R117S	R	+	3	2	PTPRA	2893784	0.012000	0.17670	0.008000	0.14137	0.985000	0.73830	-0.103000	0.10940	-0.408000	0.07565	0.533000	0.62120	AGA		0.468	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			33	54	0	0	0	1	0	33	54				
TRAK2	66008	broad.mit.edu	37	2	202254547	202254547	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202254547C>A	ENST00000332624.3	-	11	1598	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	390	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAAGATTCCTCATCCAAAC	0.368																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1168-1170)gaG>gaT		trafficking protein, kinesin binding 2							158.0	172.0	167.0					2																	202254547		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202254547C>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1170G>T	2.37:g.202254547C>A	ENSP00000328875:p.Glu390Asp						p.E390D	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			11	1598	-			390	Missing (in Ref. 2).		Interaction with HGS (By similarity).		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1170G>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949990	0.34377	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.07444	3.19	5.8	1.03	0.20045	.	0.203567	0.42420	D	0.000714	T	0.04907	0.0132	L	0.27053	0.805	0.80722	D	1	B	0.22683	0.073	B	0.22386	0.039	T	0.44544	-0.9321	10	0.23302	T	0.38	.	5.2597	0.15565	0.149:0.35:0.0:0.501	.	390	O60296	TRAK2_HUMAN	D	390;296	ENSP00000328875:E390D	ENSP00000328875:E390D	E	-	3	2	TRAK2	201962792	0.997000	0.39634	0.999000	0.59377	0.888000	0.51559	0.449000	0.21744	0.111000	0.17947	-0.806000	0.03193	GAG		0.368	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		7	158	1	0	0.00448238	1	0.00472561	7	158				
APBB1	322	broad.mit.edu	37	11	6432274	6432274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432274C>T	ENST00000609360.1	-	2	403	c.304G>A	c.(304-306)Gag>Aag	p.E102K	APBB1_ENST00000389906.2_Missense_Mutation_p.E102K|APBB1_ENST00000299402.6_Missense_Mutation_p.E102K|APBB1_ENST00000311051.3_Missense_Mutation_p.E102K	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	102					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATCTCAGGCTCCTGGCTGGCC	0.637																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(304-306)Gag>Aag		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							159.0	175.0	170.0					11																	6432274		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432274C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.304G>A	11.37:g.6432274C>T	ENSP00000477213:p.Glu102Lys					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.E102K|APBB1_ENST00000311051.3_Missense_Mutation_p.E102K	p.E102K	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	403	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	102					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.304G>A		.	.	.	.	.	.	.	.	.	.	C	12.04	1.819018	0.32145	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14640	2.49;2.49;2.49	3.78	3.78	0.43462	.	0.323607	0.23563	N	0.046821	T	0.09113	0.0225	N	0.14661	0.345	0.26983	N	0.965319	P	0.38195	0.622	B	0.36289	0.221	T	0.18147	-1.0346	10	0.52906	T	0.07	-7.7934	13.9662	0.64209	0.0:1.0:0.0:0.0	.	102	O00213-2	.	K	102	ENSP00000299402:E102K;ENSP00000311912:E102K;ENSP00000374556:E102K	ENSP00000299402:E102K	E	-	1	0	APBB1	6388850	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.090000	0.57693	2.074000	0.62210	0.393000	0.25936	GAG		0.637	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		23	296	0	0	0	1	0	23	296				
PHKA2	5256	broad.mit.edu	37	X	18954256	18954256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18954256G>A	ENST00000379942.4	-	11	1719	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	352					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGGCCTCTCGGTATTCTTGG	0.527																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	GRCh37	CM981534	PHKA2	M		c.(1054-1056)Cga>Tga		phosphorylase kinase, alpha 2 (liver)							73.0	52.0	59.0					X																	18954256		2203	4300	6503	SO:0001587	stop_gained	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18954256G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1054C>T	X.37:g.18954256G>A	ENSP00000369274:p.Arg352*						p.R352*	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			11	1719	-	Hepatocellular(33;0.183)		352					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Nonsense_Mutation	SNP	ENST00000379942.4	37	c.1054C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	45	11.601014	0.99581	.	.	ENSG00000044446	ENST00000379942	.	.	.	5.41	5.41	0.78517	.	0.175368	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0649	13.1134	0.59288	0.0:0.0:0.7899:0.2101	.	.	.	.	X	352	.	ENSP00000369274:R352X	R	-	1	2	PHKA2	18864177	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.936000	0.56568	2.402000	0.81655	0.600000	0.82982	CGA		0.527	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	15	0	0	0	1	0	6	15				
NFASC	23114	broad.mit.edu	37	1	204943842	204943842	+	Silent	SNP	C	C	T	rs202095107	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204943842C>T	ENST00000401399.1	+	13	1648	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	NFASC_ENST00000338586.6_Silent_p.N483N|NFASC_ENST00000404907.1_Silent_p.N494N|NFASC_ENST00000367172.4_Silent_p.N483N|NFASC_ENST00000403080.1_Silent_p.N483N|NFASC_ENST00000513543.1_Silent_p.N494N|NFASC_ENST00000360049.4_Silent_p.N494N|NFASC_ENST00000339876.6_Silent_p.N483N|NFASC_ENST00000367171.4_Silent_p.N483N|NFASC_ENST00000367169.4_Silent_p.N483N|NFASC_ENST00000404076.1_Silent_p.N477N|NFASC_ENST00000539706.1_Silent_p.N494N|NFASC_ENST00000367170.4_Silent_p.N483N|NFASC_ENST00000338515.6_Silent_p.N483N			O94856	NFASC_HUMAN	neurofascin	483	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTTATGAGAACGGCAGTCTGG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		21789	0.0		0.001	False		,,,				2504	0.001					ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(1447-1449)aaC>aaT		neurofascin							162.0	153.0	156.0					1																	204943842		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204943842C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1449C>T	1.37:g.204943842C>T						NFASC_ENST00000403080.1_Silent_p.N483N|NFASC_ENST00000401399.1_Silent_p.N483N|NFASC_ENST00000339876.6_Silent_p.N483N|NFASC_ENST00000367169.4_Silent_p.N483N|NFASC_ENST00000513543.1_Silent_p.N494N|NFASC_ENST00000360049.4_Silent_p.N494N|NFASC_ENST00000404907.1_Silent_p.N494N|NFASC_ENST00000404076.1_Silent_p.N477N|NFASC_ENST00000338515.6_Silent_p.N483N|NFASC_ENST00000539706.1_Silent_p.N494N|NFASC_ENST00000367171.4_Silent_p.N483N|NFASC_ENST00000338586.6_Silent_p.N483N|NFASC_ENST00000367170.4_Silent_p.N483N	p.N483N			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		14	1777	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		483			Ig-like C2-type 5.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.1449C>T	CCDS53460.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.025	0.559485	0.13436	.	.	ENSG00000163531	ENST00000367173	.	.	.	5.84	-9.3	0.00649	.	.	.	.	.	T	0.66237	0.2769	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74478	-0.3652	4	.	.	.	.	20.2463	0.98398	0.0:0.6195:0.0:0.3805	.	.	.	.	M	453	.	.	T	+	2	0	NFASC	203210465	0.000000	0.05858	0.498000	0.27564	0.791000	0.44710	-3.839000	0.00353	-1.998000	0.00968	-1.552000	0.00895	ACG		0.512	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		51	74	0	0	0	1	0	51	74				
LMTK2	22853	broad.mit.edu	37	7	97822147	97822147	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822147G>T	ENST00000297293.5	+	11	2663	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	790					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TAAGCACAAAGGGTGACGATA	0.453																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2368-2370)aaG>aaT		lemur tyrosine kinase 2							124.0	128.0	127.0					7																	97822147		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822147G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2370G>T	7.37:g.97822147G>T	ENSP00000297293:p.Lys790Asn						p.K790N	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2663	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		790					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2370G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384130	0.25031	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.66	2.37	0.29283	.	1.083770	0.06819	N	0.791932	T	0.65637	0.2710	L	0.43152	1.355	0.09310	N	1	B	0.29716	0.255	B	0.19666	0.026	T	0.49716	-0.8910	10	0.18710	T	0.47	.	5.3968	0.16273	0.2502:0.1615:0.5883:0.0	.	790	Q8IWU2	LMTK2_HUMAN	N	790	ENSP00000297293:K790N	ENSP00000297293:K790N	K	+	3	2	LMTK2	97660083	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.205000	0.17356	0.854000	0.35336	0.655000	0.94253	AAG		0.453	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		12	157	1	0	2.32078e-09	1	2.82054e-09	12	157				
SPIN1	10927	broad.mit.edu	37	9	91077536	91077536	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91077536T>C	ENST00000375859.3	+	4	505	c.227T>C	c.(226-228)gTt>gCt	p.V76A	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.V76A	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	76	Tudor-like domain 1.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AAAGGAACCGTTCTGGACCAG	0.458																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(226-228)gTt>gCt		spindlin 1							83.0	92.0	89.0					9																	91077536		2070	4232	6302	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91077536T>C	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.227T>C	9.37:g.91077536T>C	ENSP00000365019:p.Val76Ala					SPIN1_ENST00000541629.1_Missense_Mutation_p.V76A|SPIN1_ENST00000469017.2_3'UTR	p.V76A	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			4	505	+			76					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.227T>C	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508572	0.85282	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.70399	-0.48;-0.48	5.64	4.51	0.55191	.	0.132195	0.49305	D	0.000145	D	0.82825	0.5121	M	0.77313	2.365	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83997	0.0341	10	0.87932	D	0	-7.9011	11.4764	0.50300	0.0:0.0702:0.0:0.9298	.	76	Q9Y657	SPIN1_HUMAN	A	76	ENSP00000365019:V76A;ENSP00000441864:V76A	ENSP00000365019:V76A	V	+	2	0	SPIN1	90267356	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.562000	0.82300	0.977000	0.38444	-0.250000	0.11733	GTT		0.458	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		3	40	0	0	0	1	0	3	40				
FRMD6	122786	broad.mit.edu	37	14	52186962	52186962	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52186962A>C	ENST00000344768.5	+	11	1410	c.1214A>C	c.(1213-1215)gAc>gCc	p.D405A	FRMD6_ENST00000356218.4_Missense_Mutation_p.D397A|FRMD6_ENST00000395718.2_Missense_Mutation_p.D397A|FRMD6_ENST00000554167.1_Missense_Mutation_p.D328A|FRMD6_ENST00000553556.1_Missense_Mutation_p.D47A			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	405					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAGCCCCGGGACACGGGGCCA	0.617																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1189-1191)gAc>gCc		FERM domain containing 6							66.0	62.0	63.0					14																	52186962		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52186962A>C	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1214A>C	14.37:g.52186962A>C	ENSP00000343899:p.Asp405Ala					FRMD6_ENST00000344768.5_Missense_Mutation_p.D405A|FRMD6_ENST00000554167.1_Missense_Mutation_p.D328A|FRMD6_ENST00000553556.1_Missense_Mutation_p.D47A|FRMD6_ENST00000356218.4_Missense_Mutation_p.D397A	p.D397A	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			11	1475	+	all_epithelial(31;0.0163)|Breast(41;0.089)		405					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1190A>C	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600956	0.28534	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	T;T;T;T	0.76316	-1.01;-1.01;-0.78;-0.59	5.98	5.98	0.97165	.	0.077885	0.53938	D	0.000044	T	0.64438	0.2598	N	0.14661	0.345	0.47862	D	0.999536	B;B;B	0.14438	0.01;0.006;0.004	B;B;B	0.17098	0.017;0.008;0.004	T	0.59348	-0.7471	10	0.22706	T	0.39	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	328;405;397	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	A	397;397;405;328;135;47;47	ENSP00000348550:D397A;ENSP00000379068:D397A;ENSP00000343899:D405A;ENSP00000451977:D328A	ENSP00000343899:D405A	D	+	2	0	FRMD6	51256712	1.000000	0.71417	0.963000	0.40424	0.152000	0.21847	6.371000	0.73119	2.289000	0.77006	0.482000	0.46254	GAC		0.617	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		3	43	0	0	0	1	0	3	43				
XIRP1	165904	broad.mit.edu	37	3	39227239	39227239	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227239C>T	ENST00000340369.3	-	2	3926	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1233					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAATGTGGCGGCCTAGAGG	0.642																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3697-3699)cGc>cAc		xin actin-binding repeat containing 1							27.0	31.0	30.0					3																	39227239		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39227239C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3698G>A	3.37:g.39227239C>T	ENSP00000343140:p.Arg1233His					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	p.R1233H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3926	-			1233					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3698G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.792004	0.00623	.	.	ENSG00000168334	ENST00000340369	T	0.03689	3.84	4.17	-2.85	0.05734	.	3.243120	0.04365	N	0.358085	T	0.01489	0.0048	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45702	-0.9243	10	0.10902	T	0.67	.	4.607	0.12382	0.0:0.3379:0.3398:0.3224	.	1233	Q702N8	XIRP1_HUMAN	H	1233	ENSP00000343140:R1233H	ENSP00000343140:R1233H	R	-	2	0	XIRP1	39202243	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	-0.246000	0.08878	-0.484000	0.06763	0.655000	0.94253	CGC		0.642	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		11	22	0	0	0	1	0	11	22				
EVPL	2125	broad.mit.edu	37	17	74004796	74004796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74004796C>T	ENST00000301607.3	-	22	4743	c.4490G>A	c.(4489-4491)cGg>cAg	p.R1497Q	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.R1519Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1497	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTGCACTCCCGATTCAGCTC	0.582																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4489-4491)cGg>cAg		envoplakin							185.0	158.0	167.0					17																	74004796		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004796C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4490G>A	17.37:g.74004796C>T	ENSP00000301607:p.Arg1497Gln					EVPL_ENST00000586740.1_Missense_Mutation_p.R1519Q	p.R1497Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4743	-			1497			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4490G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198487	0.58126	.	.	ENSG00000167880	ENST00000301607	T	0.46819	0.86	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.76002	2.32	0.49582	D	0.999806	D;D	0.89917	0.996;1.0	P;D	0.87578	0.735;0.998	T	0.64271	-0.6447	10	0.17832	T	0.49	-39.7902	18.0271	0.89272	0.0:1.0:0.0:0.0	.	1519;1497	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	1497	ENSP00000301607:R1497Q	ENSP00000301607:R1497Q	R	-	2	0	EVPL	71516391	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	5.805000	0.69143	2.262000	0.75019	0.561000	0.74099	CGG		0.582	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		42	73	0	0	0	1	0	42	73				
LRRC7	57554	broad.mit.edu	37	1	70555435	70555435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70555435C>A	ENST00000035383.5	+	23	4394	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H	LRRC7_ENST00000415775.2_Missense_Mutation_p.P739H|LRRC7_ENST00000310961.5_Missense_Mutation_p.P1413H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1455	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAAAGAATCCTGGCCTTGGA	0.294																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4237-4239)cCt>cAt		leucine rich repeat containing 7							93.0	96.0	95.0					1																	70555435		2203	4299	6502	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70555435C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4364C>A	1.37:g.70555435C>A	ENSP00000035383:p.Pro1455His					LRRC7_ENST00000035383.5_Missense_Mutation_p.P1455H|LRRC7_ENST00000415775.2_Missense_Mutation_p.P739H	p.P1413H			Q96NW7	LRRC7_HUMAN			25	4656	+			1455					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4238C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594407	0.86953	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.25414	1.8;1.8;1.8	5.48	5.48	0.80851	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.30208	-0.9986	10	0.62326	D	0.03	.	17.9073	0.88923	0.0:1.0:0.0:0.0	.	739;1408;1455	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	H	1413;1455;739;1231	ENSP00000309245:P1413H;ENSP00000035383:P1455H;ENSP00000394867:P739H	ENSP00000035383:P1455H	P	+	2	0	LRRC7	70328023	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.177000	0.77650	2.569000	0.86673	0.591000	0.81541	CCT		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		5	54	1	0	1.06961e-07	1	1.26574e-07	5	54				
COL4A2	1284	broad.mit.edu	37	13	111134982	111134982	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111134982C>A	ENST00000360467.5	+	32	3184	c.2878C>A	c.(2878-2880)Ctg>Atg	p.L960M		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	960	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTGAAGGGTCTGGCTGGTGA	0.522																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2878-2880)Ctg>Atg		collagen, type IV, alpha 2							80.0	86.0	84.0					13																	111134982		1945	4114	6059	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111134982C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2878C>A	13.37:g.111134982C>A	ENSP00000353654:p.Leu960Met						p.L960M	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		32	3184	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	960			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2878C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800705	0.31869	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93426	-3.22	5.14	1.51	0.23008	.	0.566539	0.14535	N	0.313622	D	0.90356	0.6982	L	0.45581	1.43	0.09310	N	1	P	0.34757	0.467	B	0.41412	0.356	T	0.81247	-0.1019	10	0.36615	T	0.2	.	7.4385	0.27169	0.0:0.645:0.0:0.355	.	960	P08572	CO4A2_HUMAN	M	960	ENSP00000353654:L960M	ENSP00000257309:L960M	L	+	1	2	COL4A2	109932983	0.001000	0.12720	0.419000	0.26584	0.902000	0.53008	0.191000	0.17076	0.212000	0.20703	-0.136000	0.14681	CTG		0.522	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		4	68	1	0	1	1	1	4	68				
UPP2	151531	broad.mit.edu	37	2	158991263	158991263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158991263C>T	ENST00000005756.4	+	7	1009	c.815C>T	c.(814-816)gCt>gTt	p.A272V	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.A329V|UPP2_ENST00000605860.1_Missense_Mutation_p.A329V|UPP2-IT1_ENST00000439185.1_RNA	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	272					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CTTCTAGCTGCTGTGGTCTGT	0.468																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(985-987)gCt>gTt		uridine phosphorylase 2							142.0	120.0	127.0					2																	158991263		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158991263C>T	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.815C>T	2.37:g.158991263C>T	ENSP00000005756:p.Ala272Val					UPP2_ENST00000005756.4_Missense_Mutation_p.A272V|UPP2_ENST00000409859.4_Missense_Mutation_p.A329V|UPP2_ENST00000460456.1_3'UTR	p.A329V			O95045	UPP2_HUMAN			10	1032	+			272					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.986C>T	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796586	0.90453	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.87571	-2.27;-2.27	5.14	4.24	0.50183	Nucleoside phosphorylase domain (1);	0.053112	0.85682	D	0.000000	D	0.93119	0.7809	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	P	0.61201	0.885	D	0.93805	0.7104	10	0.87932	D	0	.	11.3066	0.49338	0.0:0.8165:0.1835:0.0	.	272	O95045	UPP2_HUMAN	V	329;272	ENSP00000387230:A329V;ENSP00000005756:A272V	ENSP00000005756:A272V	A	+	2	0	UPP2	158699509	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.770000	0.55310	1.355000	0.45865	0.650000	0.86243	GCT		0.468	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		7	50	0	0	0	1	0	7	50				
SCN2A	6326	broad.mit.edu	37	2	166245552	166245552	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166245552T>C	ENST00000375437.2	+	27	5526	c.5236T>C	c.(5236-5238)Tgt>Cgt	p.C1746R	SCN2A_ENST00000375427.2_Missense_Mutation_p.C1746R|SCN2A_ENST00000283256.6_Missense_Mutation_p.C1746R|SCN2A_ENST00000357398.3_Missense_Mutation_p.C1746R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1746					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAAGGAGACTGTGGGAACCC	0.468																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5236-5238)Tgt>Cgt		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						184.0	181.0	182.0					2																	166245552		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245552T>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5236T>C	2.37:g.166245552T>C	ENSP00000364586:p.Cys1746Arg					SCN2A_ENST00000375437.2_Missense_Mutation_p.C1746R|SCN2A_ENST00000375427.2_Missense_Mutation_p.C1746R|SCN2A_ENST00000283256.6_Missense_Mutation_p.C1746R	p.C1746R			Q99250	SCN2A_HUMAN			27	5526	+			1746					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5236T>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164931	0.38217	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99023	0.9666	H	0.96833	3.89	0.80722	D	1	P;B	0.38677	0.642;0.003	P;B	0.48030	0.564;0.042	D	0.99548	1.0965	10	0.87932	D	0	.	16.3507	0.83204	0.0:0.0:0.0:1.0	.	1746;1746	Q99250-2;Q99250	.;SCN2A_HUMAN	R	1746	ENSP00000364586:C1746R;ENSP00000349973:C1746R;ENSP00000283256:C1746R;ENSP00000364576:C1746R	ENSP00000283256:C1746R	C	+	1	0	SCN2A	165953798	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.941000	0.87700	2.319000	0.78375	0.524000	0.50904	TGT		0.468	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		19	153	0	0	0	1	0	19	153				
PSG9	5678	broad.mit.edu	37	19	43757796	43757796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43757796G>A	ENST00000270077.3	-	6	1342	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	PSG9_ENST00000291752.5_Missense_Mutation_p.P230S|PSG9_ENST00000593948.1_Missense_Mutation_p.P323S|PSG9_ENST00000443718.3_Missense_Mutation_p.P323S|PSG9_ENST00000418820.2_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	416					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ccatggcagggacctgattga	0.463																																						ENST00000270077.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1246-1248)Ccc>Tcc		pregnancy specific beta-1-glycoprotein 9							81.0	86.0	85.0					19																	43757796		2130	4279	6409	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43757796G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1246C>T	19.37:g.43757796G>A	ENSP00000270077:p.Pro416Ser					PSG9_ENST00000291752.5_Missense_Mutation_p.P230S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.P323S|PSG9_ENST00000443718.3_Missense_Mutation_p.P323S	p.P416S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN			6	1342	-		Prostate(69;0.00682)	416					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.1246C>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	c	8.565	0.878672	0.17395	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220	T;T;T	0.50001	0.76;2.25;2.61	0.627	-0.601	0.11638	Immunoglobulin-like fold (1);	.	.	.	.	T	0.49029	0.1533	L	0.31476	0.935	0.09310	N	1	D;P;B;B	0.89917	1.0;0.941;0.062;0.008	D;B;B;B	0.79108	0.992;0.274;0.036;0.005	T	0.39121	-0.9629	8	0.34782	T	0.22	.	.	.	.	.	323;230;416;416	E7EW65;G3XAA7;Q6LEU7;Q00887	.;.;.;PSG9_HUMAN	S	416;230;323;377	ENSP00000270077:P416S;ENSP00000291752:P230S;ENSP00000396753:P323S	ENSP00000270077:P416S	P	-	1	0	PSG9	48449636	0.002000	0.14202	0.004000	0.12327	0.060000	0.15804	-0.065000	0.11617	-0.161000	0.10983	-1.123000	0.02005	CCC		0.463	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		21	44	0	0	0	1	0	21	44				
TBC1D8	11138	broad.mit.edu	37	2	101648805	101648805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101648805C>A	ENST00000376840.4	-	11	1815	c.1816G>T	c.(1816-1818)Gag>Tag	p.E606*	TBC1D8_ENST00000409318.1_Nonsense_Mutation_p.E621*			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	606	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCTTCCTCCTCCTTGGTGTAC	0.567																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1861-1863)Gag>Tag		TBC1 domain family, member 8 (with GRAM domain)							80.0	87.0	85.0					2																	101648805		2175	4264	6439	SO:0001587	stop_gained	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101648805C>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1816G>T	2.37:g.101648805C>A	ENSP00000366036:p.Glu606*					TBC1D8_ENST00000376840.4_Nonsense_Mutation_p.E606*	p.E621*	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			11	1991	-			606			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Nonsense_Mutation	SNP	ENST00000376840.4	37	c.1861G>T	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	40	8.390066	0.98789	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	.	.	.	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.3908	18.3582	0.90365	0.0:1.0:0.0:0.0	.	.	.	.	X	606;621	.	ENSP00000366036:E606X	E	-	1	0	TBC1D8	101015237	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.636000	0.83301	2.320000	0.78422	0.655000	0.94253	GAG		0.567	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		9	17	1	0	9.70103e-10	1	1.18443e-09	9	17				
COL11A2	1302	broad.mit.edu	37	6	33157138	33157138	+	Missense_Mutation	SNP	C	C	T	rs374898022		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33157138C>T	ENST00000374708.4	-	2	449	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	COL11A2_ENST00000341947.2_Missense_Mutation_p.R64Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R64Q	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	64	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGGGCAGGTCGTGCCACTCG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17914	0.001		0.0	False		,,,				2504	0.0				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(190-192)cGa>cAa		collagen, type XI, alpha 2							76.0	63.0	68.0					6																	33157138		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33157138C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.191G>A	6.37:g.33157138C>T	ENSP00000363840:p.Arg64Gln					COL11A2_ENST00000374714.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374708.4_Missense_Mutation_p.R64Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R64Q	p.R64Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			2	418	-			64			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.191G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957504	0.73902	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42;4.42;4.42;4.42;4.42;4.42	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.084250	0.45361	D	0.000361	T	0.00724	0.0024	N	0.11845	0.185	0.32404	N	0.551601	D;P;P;D	0.60575	0.988;0.876;0.876;0.985	B;B;B;B	0.43701	0.428;0.091;0.091;0.186	T	0.60326	-0.7285	10	0.40728	T	0.16	.	8.0946	0.30820	0.0:0.889:0.0:0.111	.	64;64;64;64	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	Q	64	ENSP00000363840:R64Q;ENSP00000339915:R64Q;ENSP00000350079:R64Q;ENSP00000363846:R64Q;ENSP00000363845:R64Q;ENSP00000378623:R64Q;ENSP00000363844:R64Q;ENSP00000355123:R64Q;ENSP00000405520:R64Q;ENSP00000378620:R64Q	ENSP00000339915:R64Q	R	-	2	0	COL11A2	33265116	0.950000	0.32346	0.773000	0.31616	0.982000	0.71751	2.256000	0.43231	2.319000	0.78375	0.501000	0.49751	CGA		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			17	32	0	0	0	1	0	17	32				
ZC3H12C	85463	broad.mit.edu	37	11	110030072	110030072	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110030072C>T	ENST00000278590.3	+	4	1056	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	ZC3H12C_ENST00000528673.1_Silent_p.D336D|ZC3H12C_ENST00000453089.2_Silent_p.D304D	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	335							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGTGCTATGACGACAGGTTCA	0.473																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(910-912)gaC>gaT		zinc finger CCCH-type containing 12C							70.0	73.0	72.0					11																	110030072		2159	4290	6449	SO:0001819	synonymous_variant	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110030072C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1005C>T	11.37:g.110030072C>T						ZC3H12C_ENST00000528673.1_Silent_p.D336D|ZC3H12C_ENST00000278590.3_Silent_p.D335D	p.D304D			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	3	1793	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	335					B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	c.912C>T	CCDS44727.1																																																																																				0.473	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		8	12	0	0	0	1	0	8	12				
NOSIP	51070	broad.mit.edu	37	19	50062189	50062189	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50062189G>A	ENST00000596358.1	-	4	281	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	NOSIP_ENST00000391853.3_Silent_p.L75L|NOSIP_ENST00000339093.3_Silent_p.L75L	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	75	U-box-like.				negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTCTGGTGCAGAATGTACTCC	0.572																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(223-225)Ctg>Ttg		nitric oxide synthase interacting protein							332.0	312.0	319.0					19																	50062189		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50062189G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.223C>T	19.37:g.50062189G>A						NOSIP_ENST00000596358.1_Silent_p.L75L|NOSIP_ENST00000339093.3_Silent_p.L75L	p.L75L	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	5	374	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	75			U-box-like.		Q96FD2	Silent	SNP	ENST00000596358.1	37	c.223C>T	CCDS12772.1																																																																																				0.572	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			31	366	0	0	0	1	0	31	366				
CCDC173	129881	broad.mit.edu	37	2	170537695	170537695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170537695G>T	ENST00000447353.1	-	2	221	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	39																	TACTTTGCTAGGTAGAAGAGG	0.383																																						ENST00000447353.1																			0											c.(115-117)cCt>cAt		coiled-coil domain containing 173							144.0	129.0	134.0					2																	170537695		1880	4111	5991	SO:0001583	missense	129881							g.chr2:170537695G>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.116C>A	2.37:g.170537695G>T	ENSP00000391504:p.Pro39His						p.P39H	NM_001085447.1	NP_001078916.1					2	221	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.116C>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194199	0.58017	.	.	ENSG00000154479	ENST00000447353	.	.	.	4.97	4.97	0.65823	.	0.673255	0.13198	U	0.406180	T	0.79764	0.4502	M	0.72118	2.19	0.43039	D	0.994626	D	0.89917	1.0	D	0.72625	0.978	T	0.79843	-0.1632	9	0.66056	D	0.02	.	18.7709	0.91892	0.0:0.0:1.0:0.0	.	39	Q0VFZ6	CB077_HUMAN	H	39	.	ENSP00000391504:P39H	P	-	2	0	C2orf77	170245941	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.734000	0.74801	2.740000	0.93945	0.563000	0.77884	CCT		0.383	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		5	40	1	0	3.59834e-05	1	4.01776e-05	5	40				
KRTAP9-8	83901	broad.mit.edu	37	17	39394564	39394564	+	Silent	SNP	G	G	C	rs377231183		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39394564G>C	ENST00000254072.6	+	1	268	c.261G>C	c.(259-261)ggG>ggC	p.G87G		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	87	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGGTCCAGCTGTG	0.612																																						ENST00000254072.6																			0				lung(8)|ovary(1)|prostate(1)	10						c.(259-261)ggG>ggC		keratin associated protein 9-8							88.0	95.0	93.0					17																	39394564		2100	4300	6400	SO:0001819	synonymous_variant	83901					keratin filament		g.chr17:39394564G>C	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.261G>C	17.37:g.39394564G>C							p.G87G	NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	268	+		Breast(137;0.000496)	87			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Silent	SNP	ENST00000254072.6	37	c.261G>C	CCDS42334.1																																																																																				0.612	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			4	53	0	0	0	1	0	4	53				
CCDC129	223075	broad.mit.edu	37	7	31617984	31617984	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31617984C>T	ENST00000407970.3	+	8	1144	c.1106C>T	c.(1105-1107)aCt>aTt	p.T369I	CCDC129_ENST00000409210.1_Missense_Mutation_p.T277I|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.T395I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(829-831)aCt>aTt		coiled-coil domain containing 129							57.0	55.0	56.0					7																	31617984		1973	4155	6128	SO:0001583	missense	223075							g.chr7:31617984C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1106C>T	7.37:g.31617984C>T	ENSP00000384416:p.Thr369Ile					CCDC129_ENST00000451887.2_Missense_Mutation_p.T395I|CCDC129_ENST00000407970.3_Missense_Mutation_p.T369I|CCDC129_ENST00000319386.3_Intron	p.T277I			Q6ZRS4	CC129_HUMAN			6	1014	+			369					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.830C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560351	0.45590	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.19669	2.39;2.37;2.13	5.61	1.59	0.23543	.	.	.	.	.	T	0.18593	0.0446	L	0.60455	1.87	0.09310	N	1	B;B;B	0.31548	0.328;0.328;0.328	B;B;B	0.32465	0.146;0.146;0.146	T	0.24012	-1.0172	8	.	.	.	-0.4085	3.932	0.09290	0.1383:0.6047:0.1339:0.1231	.	395;379;369	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	I	369;395;379;277	ENSP00000384416:T369I;ENSP00000395835:T395I;ENSP00000387214:T277I	.	T	+	2	0	CCDC129	31584509	0.001000	0.12720	0.001000	0.08648	0.069000	0.16628	0.297000	0.19101	0.071000	0.16664	0.655000	0.94253	ACT		0.517	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		23	28	0	0	0	1	0	23	28				
TMUB2	79089	broad.mit.edu	37	17	42266537	42266537	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42266537C>T	ENST00000587989.1	+	3	336	c.183C>T	c.(181-183)agC>agT	p.S61S	ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000589785.1_Silent_p.S41S|TMUB2_ENST00000592825.1_Silent_p.S41S|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Silent_p.S41S|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000587172.1_Silent_p.S41S|TMUB2_ENST00000446571.3_Silent_p.S41S|TMUB2_ENST00000538716.2_Silent_p.S61S|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Silent_p.S41S|TMUB2_ENST00000319511.6_Silent_p.S41S|TMUB2_ENST00000589856.1_Silent_p.S41S			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	61						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCAGACAGCGGTAGCAACC	0.597																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(121-123)agC>agT		transmembrane and ubiquitin-like domain containing 2							125.0	110.0	115.0					17																	42266537		2203	4300	6503	SO:0001819	synonymous_variant	79089					integral to membrane		g.chr17:42266537C>T		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.183C>T	17.37:g.42266537C>T						TMUB2_ENST00000538716.2_Silent_p.S61S|TMUB2_ENST00000357984.3_Silent_p.S41S|TMUB2_ENST00000587989.1_Silent_p.S61S|TMUB2_ENST00000446571.3_Silent_p.S41S|TMUB2_ENST00000592825.1_Silent_p.S41S|TMUB2_ENST00000589856.1_Silent_p.S41S|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Silent_p.S41S|TMUB2_ENST00000590235.1_Silent_p.S41S|TMUB2_ENST00000589785.1_Silent_p.S41S	p.S41S	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	773	+		Breast(137;0.00765)|Prostate(33;0.0181)	61					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	c.123C>T	CCDS54134.1																																																																																				0.597	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		24	56	0	0	0	1	0	24	56				
PDE4DIP	9659	broad.mit.edu	37	1	144916612	144916612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144916612C>A	ENST00000369354.3	-	13	1932	c.1743G>T	c.(1741-1743)caG>caT	p.Q581H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q718H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q718H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q744H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q744H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q647H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q368H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	581					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGTAACTGCTGAATGATAC	0.413			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2230-2232)caG>caT		phosphodiesterase 4D interacting protein							660.0	693.0	682.0					1																	144916612		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144916612C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1743G>T	1.37:g.144916612C>A	ENSP00000358360:p.Gln581His					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q718H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q647H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q744H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q368H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q718H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q581H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q581H	p.Q744H			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	2671	-			581					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2232G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946432	0.73672	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.66638	4.61;4.69;4.69;4.7;4.69;3.7;3.7;2.65;2.65;-0.22	5.83	4.92	0.64577	.	.	.	.	.	T	0.73102	0.3544	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.996;0.999	D;D;D;D;D;D	0.87578	0.993;0.997;0.98;0.998;0.993;0.997	T	0.76892	-0.2791	9	0.59425	D	0.04	.	13.2866	0.60247	0.0:0.9231:0.0:0.0769	.	744;368;581;744;647;581	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	647;581;581;744;718;718;581;581;744;744;368	ENSP00000327209:Q647H;ENSP00000358360:Q581H;ENSP00000358363:Q581H;ENSP00000435654:Q718H;ENSP00000358366:Q718H;ENSP00000358357:Q581H;ENSP00000358355:Q581H;ENSP00000316434:Q744H;ENSP00000433392:Q744H;ENSP00000436791:Q368H	ENSP00000327209:Q647H	Q	-	3	2	PDE4DIP	143627969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.216000	0.32443	1.619000	0.50296	0.644000	0.83932	CAG		0.413	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		20	1142	1	0	6.72482e-11	1	8.32712e-11	20	1142				
GAREM	64762	broad.mit.edu	37	18	29867539	29867539	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29867539G>A	ENST00000269209.6	-	4	1024	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Missense_Mutation_p.R341W			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	341					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CGGACAGCCCGTGAATACTCA	0.552																																						ENST00000399218.4																			0											c.(1021-1023)Cgg>Tgg		GRB2 associated, regulator of MAPK1							92.0	93.0	93.0					18																	29867539		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867539G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1021C>T	18.37:g.29867539G>A	ENSP00000269209:p.Arg341Trp					GAREM_ENST00000269209.6_Missense_Mutation_p.R341W|RP11-344B2.2_ENST00000579580.1_RNA	p.R341W	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	1076	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1021C>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050084	0.55218	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.20069	2.1;2.1	5.55	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.38175	1.15	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.12477	-1.0546	10	0.72032	D	0.01	-20.8212	14.9193	0.70822	0.0:0.0:0.7394:0.2606	.	341;341	Q9H706;Q9H706-3	FA59A_HUMAN;.	W	341	ENSP00000382165:R341W;ENSP00000269209:R341W	ENSP00000269209:R341W	R	-	1	2	FAM59A	28121537	1.000000	0.71417	0.998000	0.56505	0.575000	0.36095	4.970000	0.63742	0.743000	0.32719	0.561000	0.74099	CGG		0.552	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		25	38	0	0	0	1	0	25	38				
CEP70	80321	broad.mit.edu	37	3	138256110	138256110	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138256110A>G	ENST00000264982.3	-	7	811	c.545T>C	c.(544-546)tTa>tCa	p.L182S	CEP70_ENST00000464035.1_Missense_Mutation_p.L182S|CEP70_ENST00000481834.1_Missense_Mutation_p.L182S|CEP70_ENST00000489254.1_Missense_Mutation_p.L30S|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.L182S|CEP70_ENST00000542237.1_Missense_Mutation_p.L162S	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	182					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTCCTTTTTTAATCTACAGAC	0.358																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(544-546)tTa>tCa		centrosomal protein 70kDa							138.0	121.0	127.0					3																	138256110		2203	4300	6503	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138256110A>G	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.545T>C	3.37:g.138256110A>G	ENSP00000264982:p.Leu182Ser					CEP70_ENST00000489254.1_Missense_Mutation_p.L30S|CEP70_ENST00000484888.1_Missense_Mutation_p.L182S|CEP70_ENST00000481834.1_Missense_Mutation_p.L182S|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Missense_Mutation_p.L182S|CEP70_ENST00000542237.1_Missense_Mutation_p.L162S	p.L182S	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN			7	811	-			182					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.545T>C	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.420924	0.25639	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T;T	0.50001	1.39;1.4;0.84;1.39;1.4;1.39;0.8;0.8;0.76	4.72	4.72	0.59763	.	0.784336	0.11518	N	0.556021	T	0.59783	0.2219	L	0.56769	1.78	0.22728	N	0.998805	D;D;P;D	0.69078	0.997;0.989;0.919;0.989	P;P;P;P	0.62298	0.9;0.836;0.504;0.836	T	0.47959	-0.9076	10	0.28530	T	0.3	-0.0114	10.5165	0.44892	1.0:0.0:0.0:0.0	.	30;162;182;182	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	S	182;162;30;182;164;182;161;162;182	ENSP00000264982:L182S;ENSP00000444128:L162S;ENSP00000417821:L30S;ENSP00000419231:L182S;ENSP00000419833:L164S;ENSP00000417465:L182S;ENSP00000418131:L161S;ENSP00000417819:L162S;ENSP00000419743:L182S	ENSP00000264982:L182S	L	-	2	0	CEP70	139738800	0.933000	0.31639	0.745000	0.31077	0.086000	0.17979	3.094000	0.50227	1.985000	0.57927	0.533000	0.62120	TTA		0.358	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		31	29	0	0	0	1	0	31	29				
HLTF	6596	broad.mit.edu	37	3	148756915	148756915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148756915G>A	ENST00000310053.5	-	23	2910	c.2717C>T	c.(2716-2718)aCt>aTt	p.T906I	HLTF_ENST00000392912.2_Missense_Mutation_p.T906I|HLTF_ENST00000465259.1_Missense_Mutation_p.T905I|HLTF_ENST00000494055.1_Missense_Mutation_p.T906I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	906	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGCATTATAGTTGGAGATCC	0.393																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2716-2718)aCt>aTt		helicase-like transcription factor							79.0	79.0	79.0					3																	148756915		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148756915G>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2717C>T	3.37:g.148756915G>A	ENSP00000308944:p.Thr906Ile					HLTF_ENST00000494055.1_Missense_Mutation_p.T906I|HLTF_ENST00000465259.1_Missense_Mutation_p.T905I|HLTF_ENST00000392912.2_Missense_Mutation_p.T906I	p.T906I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		23	2910	-			906			Helicase C-terminal.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2717C>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942804	0.92526	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.98	5.98	0.97165	Helicase, C-terminal (3);	.	.	.	.	T	0.69904	0.3163	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77557	0.985;0.99;0.985	T	0.71751	-0.4498	9	0.66056	D	0.02	-24.1689	20.0685	0.97708	0.0:0.0:1.0:0.0	.	906;906;906	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	I	905;906;906;906;374	ENSP00000420745:T905I;ENSP00000308944:T906I;ENSP00000376644:T906I;ENSP00000420429:T906I;ENSP00000420106:T374I	ENSP00000308944:T906I	T	-	2	0	HLTF	150239605	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.017000	0.64047	2.835000	0.97688	0.650000	0.86243	ACT		0.393	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			16	42	0	0	0	1	0	16	42				
C7orf62	219557	broad.mit.edu	37	7	88423597	88423597	+	Silent	SNP	G	G	A	rs147171457	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88423597G>A	ENST00000297203.2	-	2	845	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	220										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGAATTCTTCGGATTTGCACA	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		17340	0.0		0.002	False		,,,				2504	0.0					ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(658-660)tcC>tcT		chromosome 7 open reading frame 62		G	,	2,4404	4.2+/-10.8	0,2,2201	133.0	120.0	125.0		660,	-4.4	0.0	7	dbSNP_134	125	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,intron	C7orf62,ZNF804B	NM_152706.2,NM_181646.2	,	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	,	220/254,	88423597	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	219557							g.chr7:88423597G>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.660C>T	7.37:g.88423597G>A						ZNF804B_ENST00000333190.4_Intron	p.S220S	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	845	-			220						Silent	SNP	ENST00000297203.2	37	c.660C>T	CCDS34678.1																																																																																				0.433	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		26	77	0	0	0	1	0	26	77				
IL1RAPL2	26280	broad.mit.edu	37	X	104728341	104728341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104728341C>T	ENST00000372582.1	+	6	1490	c.734C>T	c.(733-735)cCc>cTc	p.P245L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P245L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	245	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCATTGTTCCCCATGGAGAAT	0.408																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(733-735)cCc>cTc		interleukin 1 receptor accessory protein-like 2							104.0	93.0	97.0					X																	104728341		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104728341C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.734C>T	X.37:g.104728341C>T	ENSP00000361663:p.Pro245Leu					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P245L	p.P245L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			6	1490	+			245			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.734C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840874	0.71488	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.04917	3.53;3.53	5.88	5.88	0.94601	Immunoglobulin-like (1);	0.000000	0.64402	D	0.000008	T	0.11452	0.0279	M	0.64404	1.975	0.80722	D	1	B	0.28291	0.206	B	0.27500	0.08	T	0.01621	-1.1310	10	0.62326	D	0.03	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	245	Q9NP60	IRPL2_HUMAN	L	245	ENSP00000361663:P245L;ENSP00000344976:P245L	ENSP00000344976:P245L	P	+	2	0	IL1RAPL2	104614997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.677000	0.68142	2.471000	0.83476	0.600000	0.82982	CCC		0.408	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		32	54	0	0	0	1	0	32	54				
C5	727	broad.mit.edu	37	9	123783855	123783855	+	Missense_Mutation	SNP	G	G	A	rs148822412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123783855G>A	ENST00000223642.1	-	11	1263	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	412					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCATCAACACGTGTTACACTT	0.438																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1234-1236)Cgt>Tgt		complement component 5	Eculizumab(DB01257)						196.0	166.0	176.0					9																	123783855		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123783855G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1234C>T	9.37:g.123783855G>A	ENSP00000223642:p.Arg412Cys						p.R412C	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	11	1263	-			412					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.1234C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254311	0.39896	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.33438	1.41	5.97	-8.3	0.01005	.	1.416890	0.04259	N	0.339991	T	0.36331	0.0963	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;0.992	P;B	0.55545	0.778;0.332	T	0.55995	-0.8052	10	0.62326	D	0.03	.	6.7626	0.23548	0.0667:0.1709:0.1371:0.6253	.	483;412	Q59GS8;P01031	.;CO5_HUMAN	C	412;483	ENSP00000223642:R412C	ENSP00000223642:R412C	R	-	1	0	C5	122823676	0.001000	0.12720	0.000000	0.03702	0.224000	0.24922	0.268000	0.18571	-1.217000	0.02604	-0.182000	0.12963	CGT		0.438	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		37	45	0	0	0	1	0	37	45				
WDR35	57539	broad.mit.edu	37	2	20130200	20130200	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20130200C>T	ENST00000345530.3	-	26	3226	c.3111G>A	c.(3109-3111)caG>caA	p.Q1037Q	WDR35_ENST00000416055.2_Silent_p.Q510Q|WDR35_ENST00000281405.4_Silent_p.Q1026Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1037					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCTGCCTCTGTGCAAGTA	0.438																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3109-3111)caG>caA		WD repeat domain 35							185.0	189.0	188.0					2																	20130200		2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20130200C>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3111G>A	2.37:g.20130200C>T						WDR35_ENST00000416055.2_Silent_p.Q510Q|WDR35_ENST00000281405.4_Silent_p.Q1026Q	p.Q1037Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			26	3226	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1037					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.3111G>A	CCDS33152.1																																																																																				0.438	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		71	103	0	0	0	1	0	71	103				
SMARCA1	6594	broad.mit.edu	37	X	128630769	128630769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128630769C>A	ENST00000371122.4	-	12	1713	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SMARCA1_ENST00000371123.1_Missense_Mutation_p.E528D|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E528D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	528	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTCGACAATACTCATAACCAC	0.383																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1582-1584)gaG>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							161.0	148.0	153.0					X																	128630769		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128630769C>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1584G>T	X.37:g.128630769C>A	ENSP00000360163:p.Glu528Asp					SMARCA1_ENST00000371121.3_Missense_Mutation_p.E528D|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E528D	p.E528D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			12	1713	-			528			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1584G>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459689	0.43736	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.36	4.5	0.54988	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000006	T	0.53158	0.1779	N	0.05012	-0.13	0.50171	D	0.999851	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.15052	0.012;0.012;0.007;0.012	T	0.48948	-0.8989	10	0.51188	T	0.08	-14.9927	10.0038	0.41944	0.0:0.8398:0.0:0.1602	.	507;528;528;528	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	D	528;528;528;507	ENSP00000360162:E528D;ENSP00000360164:E528D;ENSP00000360163:E528D;ENSP00000404275:E507D	ENSP00000360162:E528D	E	-	3	2	SMARCA1	128458450	0.938000	0.31826	1.000000	0.80357	0.987000	0.75469	0.076000	0.14712	1.029000	0.39812	0.422000	0.28245	GAG		0.383	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		14	107	1	0	1.3612e-06	1	1.57881e-06	14	107				
EFCAB7	84455	broad.mit.edu	37	1	64027519	64027519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64027519G>T	ENST00000371088.4	+	11	1734	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	496							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGCTCTGGAGTTGACAGAGG	0.348																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1486-1488)gaG>gaT		EF-hand calcium binding domain 7							74.0	80.0	78.0					1																	64027519		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:64027519G>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1488G>T	1.37:g.64027519G>T	ENSP00000360129:p.Glu496Asp					EFCAB7_ENST00000461039.1_3'UTR	p.E496D	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			11	1734	+			496					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.1488G>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871274	0.33069	.	.	ENSG00000203965	ENST00000371088	T	0.41400	1.0	5.76	2.38	0.29361	.	0.092240	0.64402	D	0.000001	T	0.19208	0.0461	L	0.54908	1.71	0.80722	D	1	P	0.39665	0.682	B	0.37650	0.255	T	0.02437	-1.1159	10	0.38643	T	0.18	-8.5628	7.07	0.25173	0.5161:0.0:0.4839:0.0	.	496	A8K855	EFCB7_HUMAN	D	496	ENSP00000360129:E496D	ENSP00000360129:E496D	E	+	3	2	EFCAB7	63800107	0.996000	0.38824	0.982000	0.44146	0.220000	0.24768	1.693000	0.37742	0.694000	0.31654	0.542000	0.68232	GAG		0.348	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		5	41	1	0	1	1	1	5	41				
TLE3	7090	broad.mit.edu	37	15	70350628	70350628	+	Silent	SNP	G	G	A	rs200743621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70350628G>A	ENST00000558939.1	-	12	2298	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TLE3_ENST00000557907.1_Silent_p.N307N|TLE3_ENST00000559929.1_Silent_p.N317N|TLE3_ENST00000539550.1_Silent_p.N251N|TLE3_ENST00000558201.1_Silent_p.N313N|TLE3_ENST00000558379.1_Silent_p.N307N|TLE3_ENST00000560939.1_Silent_p.N312N|TLE3_ENST00000317509.8_Silent_p.N307N|TLE3_ENST00000559048.1_Silent_p.N312N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557997.1_Silent_p.N307N|TLE3_ENST00000451782.2_Silent_p.N307N|TLE3_ENST00000560589.1_Silent_p.N251N|TLE3_ENST00000442299.2_Silent_p.N307N|TLE3_ENST00000440567.3_Silent_p.N300N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	307	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGATTTGTCGTTCTGAAGAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17771	0.0		0.001	False		,,,				2504	0.0					ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(919-921)aaC>aaT		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)		G	,,	0,3986		0,0,1993	160.0	166.0	164.0		921,921,921	0.7	1.0	15		164	5,8307		0,5,4151	no	coding-synonymous,coding-synonymous,coding-synonymous	TLE3	NM_001105192.1,NM_005078.2,NM_020908.1	,,	0,5,6144	AA,AG,GG		0.0602,0.0,0.0407	,,	307/770,307/773,307/761	70350628	5,12293	1993	4156	6149	SO:0001819	synonymous_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70350628G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.921C>T	15.37:g.70350628G>A						TLE3_ENST00000442299.2_Silent_p.N307N|TLE3_ENST00000558379.1_Silent_p.N307N|TLE3_ENST00000451782.2_Silent_p.N307N|TLE3_ENST00000560589.1_Silent_p.N251N|TLE3_ENST00000559048.1_Silent_p.N312N|TLE3_ENST00000559929.1_Silent_p.N317N|TLE3_ENST00000557997.1_Silent_p.N307N|TLE3_ENST00000317509.8_Silent_p.N307N|TLE3_ENST00000539550.1_Silent_p.N251N|TLE3_ENST00000558201.1_Silent_p.N313N|TLE3_ENST00000560939.1_Silent_p.N312N|TLE3_ENST00000440567.3_Silent_p.N300N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Silent_p.N307N	p.N307N			Q04726	TLE3_HUMAN			12	2298	-			307			Pro/Ser-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.921C>T	CCDS45293.1																																																																																				0.617	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		43	84	0	0	0	1	0	43	84				
SNX33	257364	broad.mit.edu	37	15	75942222	75942222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942222C>T	ENST00000308527.5	+	1	1976	c.779C>T	c.(778-780)gCc>gTc	p.A260V	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	260	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ACCCATGCTGCCTCACCCGTC	0.547																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(778-780)gCc>gTc		sorting nexin 33							152.0	135.0	141.0					15																	75942222		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942222C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.779C>T	15.37:g.75942222C>T	ENSP00000311427:p.Ala260Val						p.A260V	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1976	+			260			PX.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.779C>T	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	7.102	0.574251	0.13623	.	.	ENSG00000173548	ENST00000308527	T	0.39229	1.09	5.42	4.5	0.54988	Phox homologous domain (5);	0.282959	0.39544	N	0.001333	T	0.28599	0.0708	L	0.29908	0.895	0.19575	N	0.999967	B	0.06786	0.001	B	0.16722	0.016	T	0.17623	-1.0363	10	0.49607	T	0.09	-11.6264	5.8871	0.18888	0.1597:0.1789:0.6614:0.0	.	260	Q8WV41	SNX33_HUMAN	V	260	ENSP00000311427:A260V	ENSP00000311427:A260V	A	+	2	0	SNX33	73729277	0.998000	0.40836	0.812000	0.32479	0.704000	0.40688	2.439000	0.44846	1.284000	0.44531	-0.311000	0.09066	GCC		0.547	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		12	126	0	0	0	1	0	12	126				
DSC3	1825	broad.mit.edu	37	18	28588261	28588261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588261G>A	ENST00000360428.4	-	10	1574	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	DSC3_ENST00000434452.1_Silent_p.P498P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	498	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTATTTTCGGGGTCATATG	0.363																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1492-1494)ccC>ccT		desmocollin 3							78.0	71.0	73.0					18																	28588261		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588261G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1494C>T	18.37:g.28588261G>A						DSC3_ENST00000360428.4_Silent_p.P498P	p.P498P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		10	1648	-			498			Cadherin 4.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1494C>T	CCDS32810.1																																																																																				0.363	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		20	25	0	0	0	1	0	20	25				
EPG5	57724	broad.mit.edu	37	18	43432538	43432538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43432538T>C	ENST00000282041.5	-	44	7668	c.7634A>G	c.(7633-7635)cAa>cGa	p.Q2545R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2545					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTTATAAATTGGGTGGCTTG	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7633-7635)cAa>cGa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							182.0	172.0	175.0					18																	43432538		1908	4119	6027	SO:0001583	missense	57724				autophagy			g.chr18:43432538T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7634A>G	18.37:g.43432538T>C	ENSP00000282041:p.Gln2545Arg						p.Q2545R	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			44	7668	-			2545					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.7634A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	7.512	0.654898	0.14580	.	.	ENSG00000152223	ENST00000282041;ENST00000540322	T	0.10005	2.92	6.02	6.02	0.97574	.	0.373175	0.30051	N	0.010522	T	0.09247	0.0228	L	0.35723	1.085	0.46376	D	0.999018	B	0.22983	0.078	B	0.23716	0.048	T	0.18209	-1.0344	10	0.10111	T	0.7	-0.5458	12.2238	0.54449	0.1344:0.0:0.0:0.8655	.	2545	Q9HCE0	EPG5_HUMAN	R	2545;473	ENSP00000282041:Q2545R	ENSP00000282041:Q2545R	Q	-	2	0	EPG5	41686536	1.000000	0.71417	0.269000	0.24586	0.064000	0.16182	3.256000	0.51492	2.299000	0.77371	0.528000	0.53228	CAA		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		4	73	0	0	0	1	0	4	73				
CSF1R	1436	broad.mit.edu	37	5	149435686	149435686	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149435686C>T	ENST00000286301.3	-	19	2748	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	819	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCCACTTCACAGGCAGGC	0.592																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2455-2457)gtG>gtA		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						88.0	90.0	90.0					5																	149435686		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149435686C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2457G>A	5.37:g.149435686C>T							p.V819V	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		19	2748	-			819			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.2457G>A	CCDS4302.1																																																																																				0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		13	12	0	0	0	1	0	13	12				
CASC5	57082	broad.mit.edu	37	15	40915861	40915861	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40915861A>G	ENST00000346991.5	+	11	3867	c.3477A>G	c.(3475-3477)acA>acG	p.T1159T	CASC5_ENST00000399668.2_Silent_p.T1133T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1159	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGAGTCACACAACTGCCTTAG	0.428																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(3475-3477)acA>acG		cancer susceptibility candidate 5							88.0	83.0	84.0					15																	40915861		1889	4110	5999	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915861A>G	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3477A>G	15.37:g.40915861A>G						CASC5_ENST00000399668.2_Silent_p.T1133T	p.T1159T			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3867	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1159			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.3477A>G	CCDS42023.1																																																																																				0.428	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		23	37	0	0	0	1	0	23	37				
SESN1	27244	broad.mit.edu	37	6	109321740	109321740	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109321740T>A	ENST00000356644.7	-	4	600	c.506A>T	c.(505-507)aAa>aTa	p.K169I	RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000302071.2_Missense_Mutation_p.K103I|SESN1_ENST00000436639.2_Missense_Mutation_p.K228I	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	169					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGCTAACACTTTGTTAAGTTC	0.403																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(682-684)aAa>aTa		sestrin 1							132.0	127.0	129.0					6																	109321740		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109321740T>A	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.506A>T	6.37:g.109321740T>A	ENSP00000349061:p.Lys169Ile					SESN1_ENST00000356644.7_Missense_Mutation_p.K169I|SESN1_ENST00000302071.2_Missense_Mutation_p.K103I	p.K228I	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	4	1428	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	169					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.683A>T	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	T	33	5.212823	0.95069	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.32272	1.46;1.46;1.46	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	M	0.89095	3.005	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.64394	-0.6418	10	0.56958	D	0.05	-63.1796	16.2813	0.82687	0.0:0.0:0.0:1.0	.	228;169	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	I	228;103;169	ENSP00000393762:K228I;ENSP00000306734:K103I;ENSP00000349061:K169I	ENSP00000306734:K103I	K	-	2	0	SESN1	109428433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.244000	0.73946	0.533000	0.62120	AAA		0.403	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		14	77	0	0	0	1	0	14	77				
BTK	695	broad.mit.edu	37	X	100615566	100615566	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100615566C>A	ENST00000308731.7	-	8	929	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	BTK_ENST00000372880.1_Missense_Mutation_p.D256Y	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	256	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCATTTTTATCTCGTGCTCTC	0.483									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(766-768)Gat>Tat		Bruton agammaglobulinemia tyrosine kinase							132.0	113.0	119.0					X																	100615566		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615566C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.766G>T	X.37:g.100615566C>A	ENSP00000308176:p.Asp256Tyr					BTK_ENST00000372880.1_Missense_Mutation_p.D256Y	p.D256Y	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			8	929	-			256			SH3.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.766G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632223	0.87660	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	T;T	0.48836	0.8;0.8	5.98	5.98	0.97165	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	M	0.82056	2.57	0.80722	D	1	D;D;P	0.63046	0.992;0.962;0.761	D;D;P	0.72982	0.979;0.945;0.671	T	0.75210	-0.3398	10	0.87932	D	0	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	256;256;256	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	Y	256	ENSP00000361971:D256Y;ENSP00000308176:D256Y	ENSP00000308176:D256Y	D	-	1	0	BTK	100502222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.514000	0.67043	2.532000	0.85374	0.594000	0.82650	GAT		0.483	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		11	93	1	0	2.27111e-07	1	2.66951e-07	11	93				
SEMA6C	10500	broad.mit.edu	37	1	151105842	151105842	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151105842G>A	ENST00000341697.3	-	19	3602	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	637					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGATGTCCTTGCCCCGACGTC	0.721																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1909-1911)ggC>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							16.0	20.0	19.0					1																	151105842		2193	4290	6483	SO:0001819	synonymous_variant	10500					integral to membrane	receptor activity	g.chr1:151105842G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1911C>T	1.37:g.151105842G>A							p.G637G			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3602	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		637					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	c.1911C>T	CCDS984.1																																																																																				0.721	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		12	6	0	0	0	1	0	12	6				
PARP12	64761	broad.mit.edu	37	7	139734114	139734114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139734114G>T	ENST00000263549.3	-	8	2215	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	448	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.			VQKNLVY -> MGGFGQH (in Ref. 4). {ECO:0000305}.		nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCATAGACCAGGTTTTTCTGA	0.408																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1342-1344)Ctg>Atg		poly (ADP-ribose) polymerase family, member 12							63.0	59.0	60.0					7																	139734114		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139734114G>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1342C>A	7.37:g.139734114G>T	ENSP00000263549:p.Leu448Met					PARP12_ENST00000470515.1_5'UTR	p.L448M	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			8	2215	-	Melanoma(164;0.0142)		448	VQKNLVY -> MGGFGQH (in Ref. 4).		WWE 2.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1342C>A	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127393	0.56721	.	.	ENSG00000059378	ENST00000263549;ENST00000489809	T;T	0.54675	1.42;0.56	5.84	1.43	0.22495	WWE domain (1);	0.247523	0.34314	N	0.004077	T	0.49508	0.1561	M	0.78456	2.415	0.27399	N	0.954907	P	0.48911	0.917	B	0.43575	0.424	T	0.49143	-0.8970	10	0.52906	T	0.07	.	5.06	0.14551	0.145:0.1185:0.6148:0.1217	.	448	Q9H0J9	PAR12_HUMAN	M	448;86	ENSP00000263549:L448M;ENSP00000417606:L86M	ENSP00000263549:L448M	L	-	1	2	PARP12	139380583	0.967000	0.33354	0.892000	0.35008	0.988000	0.76386	0.414000	0.21164	0.361000	0.24292	0.555000	0.69702	CTG		0.408	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		17	9	1	0	1.00905e-13	1	1.28195e-13	17	9				
IPO4	79711	broad.mit.edu	37	14	24647340	24647340	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24647340G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.R302H|REC8_ENST00000559919.1_Missense_Mutation_p.R302H	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGCCGTCGTCGCCGGTTACTG	0.612																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(904-906)cGc>cAc		REC8 meiotic recombination protein							42.0	49.0	47.0					14																	24647340		1871	4095	5966	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24647340G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24647340G>A						REC8_ENST00000559919.1_Missense_Mutation_p.R302H	p.R302H			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	13	1504	+			303			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.905G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950339	0.34377	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.34859	1.34	5.24	3.34	0.38264	.	0.000000	0.64402	D	0.000001	T	0.32704	0.0838	M	0.68952	2.095	0.35718	D	0.816949	B;B	0.29232	0.238;0.153	B;B	0.22601	0.04;0.018	T	0.47522	-0.9111	10	0.72032	D	0.01	-17.5423	8.0912	0.30801	0.0831:0.0:0.7616:0.1553	.	286;303	O95072-2;O95072	.;REC8_HUMAN	H	302;285	ENSP00000308699:R302H	ENSP00000308699:R302H	R	+	2	0	REC8	23717180	0.998000	0.40836	1.000000	0.80357	0.035000	0.12851	1.832000	0.39151	1.439000	0.47511	0.561000	0.74099	CGC		0.612	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		22	25	0	0	0	1	0	22	25				
FLNA	2316	broad.mit.edu	37	X	153582583	153582583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582583C>T	ENST00000369850.3	-	34	5729	c.5493G>A	c.(5491-5493)cgG>cgA	p.R1831R	FLNA_ENST00000369856.3_Silent_p.R22R|FLNA_ENST00000422373.1_Silent_p.R1823R|FLNA_ENST00000344736.4_Silent_p.R1791R|FLNA_ENST00000360319.4_Silent_p.R1823R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1831					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGTGCATACCGCACGGTCA	0.652																																						ENST00000422373.1																			0				breast(6)	6						c.(5467-5469)cgG>cgA		filamin A, alpha							44.0	46.0	45.0					X																	153582583		2187	4253	6440	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153582583C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5493G>A	X.37:g.153582583C>T						FLNA_ENST00000344736.4_Silent_p.R1791R|FLNA_ENST00000360319.4_Silent_p.R1823R|FLNA_ENST00000369850.3_Silent_p.R1831R|FLNA_ENST00000369856.3_Silent_p.R22R	p.R1823R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			33	5717	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1831					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.5469G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	0.139	-1.104761	0.01828	.	.	ENSG00000196924	ENST00000438732	.	.	.	5.41	2.47	0.30058	.	.	.	.	.	T	0.46112	0.1376	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29212	-1.0019	4	.	.	.	.	3.3037	0.06992	0.0889:0.2573:0.4244:0.2294	.	.	.	.	D	114	.	.	G	-	2	0	FLNA	153235777	0.653000	0.27358	0.972000	0.41901	0.033000	0.12548	-0.193000	0.09573	0.465000	0.27167	0.529000	0.55759	GGT		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	52	0	0	0	1	0	4	52				
ALKBH4	54784	broad.mit.edu	37	7	102100177	102100177	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102100177G>A	ENST00000292566.3	-	2	234	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	65					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						GGAAGGCCCAGCCCTCAAAGT	0.577																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(193-195)ggC>ggT		alkB, alkylation repair homolog 4 (E. coli)							98.0	90.0	93.0					7																	102100177		2203	4300	6503	SO:0001819	synonymous_variant	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102100177G>A	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.195C>T	7.37:g.102100177G>A							p.G65G	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			2	234	-			65					Q53H92|Q9H6A4	Silent	SNP	ENST00000292566.3	37	c.195C>T	CCDS5723.1																																																																																				0.577	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		6	117	0	0	0	1	0	6	117				
RBMX	27316	broad.mit.edu	37	X	135957742	135957742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135957742G>A	ENST00000320676.7	-	6	698	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000570135.1_Missense_Mutation_p.P47S|RBMX_ENST00000431446.3_Silent_p.L73L|RBMX_ENST00000562646.1_Missense_Mutation_p.P182S|RBMX_ENST00000565438.1_Missense_Mutation_p.P54S	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	182					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CGTGATACAGGAGCTTAAGGA	0.388																																						ENST00000562646.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(544-546)Cct>Tct		RNA binding motif protein, X-linked							50.0	50.0	50.0					X																	135957742		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135957742G>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.544C>T	X.37:g.135957742G>A	ENSP00000359645:p.Pro182Ser					RBMX_ENST00000431446.3_Silent_p.L73L|RBMX_ENST00000320676.7_Missense_Mutation_p.P182S|RBMX_ENST00000565438.1_Missense_Mutation_p.P54S|RBMX_ENST00000570135.1_Missense_Mutation_p.P47S	p.P182S			P38159	HNRPG_HUMAN			6	698	-	Acute lymphoblastic leukemia(192;0.000127)		182					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.544C>T	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	16.97	3.268834	0.59540	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.79554	-1.28	5.6	5.6	0.85130	RBM1CTR (1);	0.082546	0.48767	U	0.000174	T	0.79793	0.4507	.	.	.	0.51767	D	0.999934	P;B	0.42337	0.776;0.241	B;B	0.42798	0.398;0.151	T	0.78237	-0.2282	8	.	.	.	.	18.8827	0.92362	0.0:0.0:1.0:0.0	.	182;169	P38159;Q8N8Y7	HNRPG_HUMAN;.	S	182;169	ENSP00000359645:P182S	.	P	-	1	0	RBMX	135785408	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.341000	0.79300	2.493000	0.84123	0.600000	0.82982	CCT		0.388	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		38	47	0	0	0	1	0	38	47				
HIVEP2	3097	broad.mit.edu	37	6	143081036	143081036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081036G>A	ENST00000367604.1	-	8	7028	c.6389C>T	c.(6388-6390)tCt>tTt	p.S2130F	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S2130F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2130F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2130	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTTCTAGGAGAGAGGTCTCT	0.463																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6388-6390)tCt>tTt		human immunodeficiency virus type I enhancer binding protein 2							171.0	161.0	164.0					6																	143081036		1914	4115	6029	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081036G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6389C>T	6.37:g.143081036G>A	ENSP00000356576:p.Ser2130Phe					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2130F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2130F	p.S2130F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	7131	-			2130			10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6389C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247501	0.80024	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03152	4.03;4.03;4.03	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.00872	-1.1532	10	0.72032	D	0.01	-20.9982	20.127	0.97984	0.0:0.0:1.0:0.0	.	2130	P31629	ZEP2_HUMAN	F	2130	ENSP00000356576:S2130F;ENSP00000356575:S2130F;ENSP00000012134:S2130F	ENSP00000012134:S2130F	S	-	2	0	HIVEP2	143122729	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.756000	0.91651	2.775000	0.95449	0.585000	0.79938	TCT		0.463	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			22	37	0	0	0	1	0	22	37				
METTL21B	25895	broad.mit.edu	37	12	58174193	58174193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58174193G>A	ENST00000300209.8	+	3	570	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	TSFM_ENST00000540550.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000350762.5_5'Flank|METTL21B_ENST00000548256.1_3'UTR|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_5'UTR|METTL21B_ENST00000333012.5_3'UTR|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000548851.1_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000543727.1_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	149						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCTGGTGCTGGGGGCTGATAT	0.607																																						ENST00000300209.8																			0				endometrium(1)|lung(1)	2						c.(445-447)Ggg>Agg		methyltransferase like 21B							149.0	111.0	124.0					12																	58174193		2203	4300	6503	SO:0001583	missense	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174193G>A	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.445G>A	12.37:g.58174193G>A	ENSP00000300209:p.Gly149Arg					METTL21B_ENST00000333012.5_3'UTR|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_5'UTR|METTL21B_ENST00000548256.1_3'UTR	p.G149R	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN			3	570	+			149					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.445G>A	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123961	0.94429	.	.	ENSG00000123427	ENST00000300209	T	0.44083	0.93	5.21	5.21	0.72293	.	0.060107	0.64402	D	0.000005	T	0.73313	0.3571	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80790	-0.1225	10	0.72032	D	0.01	.	17.5164	0.87775	0.0:0.0:1.0:0.0	.	149	Q96AZ1	MT21B_HUMAN	R	149	ENSP00000300209:G149R	ENSP00000300209:G149R	G	+	1	0	METTL21B	56460460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.803000	0.75180	2.423000	0.82170	0.563000	0.77884	GGG		0.607	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		25	32	0	0	0	1	0	25	32				
IFT122	55764	broad.mit.edu	37	3	129207235	129207235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129207235A>G	ENST00000348417.2	+	16	2064	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	IFT122_ENST00000440957.2_Missense_Mutation_p.K454E|IFT122_ENST00000347300.2_Missense_Mutation_p.K604E|IFT122_ENST00000507564.1_Missense_Mutation_p.K655E|IFT122_ENST00000349441.2_Missense_Mutation_p.K552E|IFT122_ENST00000296266.3_Missense_Mutation_p.K714E|IFT122_ENST00000431818.2_Missense_Mutation_p.K513E|IFT122_ENST00000504021.1_Missense_Mutation_p.K557E	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	663					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGAAACAGCAAAGAAGGTAAG	0.522																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2140-2142)Aag>Gag		intraflagellar transport 122 homolog (Chlamydomonas)							57.0	54.0	55.0					3																	129207235		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129207235A>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1987A>G	3.37:g.129207235A>G	ENSP00000324005:p.Lys663Glu					IFT122_ENST00000507564.1_Missense_Mutation_p.K655E|IFT122_ENST00000504021.1_Missense_Mutation_p.K557E|IFT122_ENST00000440957.2_Missense_Mutation_p.K454E|IFT122_ENST00000349441.2_Missense_Mutation_p.K552E|IFT122_ENST00000348417.2_Missense_Mutation_p.K663E|IFT122_ENST00000347300.2_Missense_Mutation_p.K604E|IFT122_ENST00000431818.2_Missense_Mutation_p.K513E	p.K714E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			17	2332	+			663					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2140A>G	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566340	0.65651	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	D;D;D;D;T;D;D;D;T	0.82255	-1.59;-1.59;-1.59;-1.59;-0.97;-1.59;-1.59;-1.59;-0.97	4.73	4.73	0.59995	.	0.214310	0.47852	D	0.000214	D	0.91486	0.7312	M	0.86805	2.84	0.50171	D	0.999858	B;D;D;P;B;B;B;B;B;P	0.63880	0.421;0.993;0.986;0.768;0.275;0.151;0.151;0.234;0.297;0.649	B;D;D;P;B;B;B;B;B;B	0.70227	0.254;0.932;0.968;0.543;0.24;0.24;0.119;0.237;0.129;0.254	D	0.92933	0.6365	10	0.72032	D	0.01	-18.7173	14.2449	0.65981	1.0:0.0:0.0:0.0	.	454;43;655;68;557;503;552;604;663;714	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	E	604;714;655;604;513;557;552;663;503;454;178;43	ENSP00000323973:K604E;ENSP00000296266:K714E;ENSP00000425536:K655E;ENSP00000410946:K513E;ENSP00000422179:K557E;ENSP00000324165:K552E;ENSP00000324005:K663E;ENSP00000401569:K454E;ENSP00000424727:K178E	ENSP00000296266:K714E	K	+	1	0	IFT122	130689925	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.014000	0.93635	1.764000	0.52075	0.413000	0.27773	AAG		0.522	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		9	42	0	0	0	1	0	9	42				
KNG1	3827	broad.mit.edu	37	3	186459812	186459812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186459812G>A	ENST00000265023.4	+	10	1839	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000609726.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000596632.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	543					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AGAGAAGACAGAAGGGCCAAC	0.458																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1627-1629)Gaa>Aaa		kininogen 1	Ouabain(DB01092)						97.0	92.0	94.0					3																	186459812		1985	4148	6133	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186459812G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1627G>A	3.37:g.186459812G>A	ENSP00000265023:p.Glu543Lys					KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	p.E543K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	1839	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		543					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1627G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619819	0.46736	.	.	ENSG00000113889	ENST00000265023	T	0.16897	2.31	5.02	3.21	0.36854	.	0.294380	0.24564	N	0.037450	T	0.16300	0.0392	L	0.59436	1.845	0.46336	D	0.99899	B	0.23058	0.079	B	0.24701	0.055	T	0.04281	-1.0963	9	.	.	.	-10.2231	7.7368	0.28819	0.0899:0.1637:0.7464:0.0	.	543	P01042	KNG1_HUMAN	K	543	ENSP00000265023:E543K	.	E	+	1	0	KNG1	187942506	0.435000	0.25577	0.775000	0.31657	0.727000	0.41649	0.694000	0.25512	0.777000	0.33496	0.655000	0.94253	GAA		0.458	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		18	34	0	0	0	1	0	18	34				
GSPT2	23708	broad.mit.edu	37	X	51488437	51488437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51488437G>A	ENST00000340438.4	+	1	1957	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	572					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGTAAGACACGACCCCGCTTC	0.428																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1714-1716)cGa>cAa		G1 to S phase transition 2							113.0	97.0	103.0					X																	51488437		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488437G>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1715G>A	X.37:g.51488437G>A	ENSP00000341247:p.Arg572Gln						p.R572Q	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	1957	+	Ovarian(276;0.236)		572					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1715G>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683290	0.68157	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.33654	1.4	4.54	4.54	0.55810	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	P	0.55545	0.778	T	0.42396	-0.9454	10	0.42905	T	0.14	0.2722	14.1767	0.65546	0.0:0.0:1.0:0.0	.	572	Q8IYD1	ERF3B_HUMAN	Q	572;489	ENSP00000341247:R572Q	ENSP00000341247:R572Q	R	+	2	0	GSPT2	51505177	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.099000	0.71466	2.521000	0.84997	0.596000	0.82720	CGA		0.428	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			27	56	0	0	0	1	0	27	56				
UROS	7390	broad.mit.edu	37	10	127477544	127477544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127477544C>T	ENST00000368797.4	-	10	915	c.691G>A	c.(691-693)Gcg>Acg	p.A231T	UROS_ENST00000368786.1_Missense_Mutation_p.A231T	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	231					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCGGCCAGCGCGCGAGCCGTA	0.637																																						ENST00000368797.4																			0				endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7						c.(691-693)Gcg>Acg		uroporphyrinogen III synthase							18.0	22.0	21.0					10																	127477544		2183	4273	6456	SO:0001583	missense	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127477544C>T	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.691G>A	10.37:g.127477544C>T	ENSP00000357787:p.Ala231Thr					UROS_ENST00000368786.1_Missense_Mutation_p.A231T	p.A231T	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN			10	915	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	231					B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	ENST00000368797.4	37	c.691G>A	CCDS7648.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.809864	0.70797	.	.	ENSG00000188690	ENST00000368797;ENST00000368786	D;D	0.93189	-3.18;-3.18	4.93	4.02	0.46733	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	M	0.88906	2.99	0.51012	D	0.9999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	D	0.95452	0.8535	10	0.10636	T	0.68	-4.4639	12.0319	0.53401	0.1729:0.8271:0.0:0.0	.	231;203	P10746;E9PG85	HEM4_HUMAN;.	T	231	ENSP00000357787:A231T;ENSP00000357775:A231T	ENSP00000357775:A231T	A	-	1	0	UROS	127467534	0.998000	0.40836	0.040000	0.18447	0.889000	0.51656	5.244000	0.65400	1.275000	0.44379	0.655000	0.94253	GCG		0.637	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		7	9	0	0	0	1	0	7	9				
ABCA13	154664	broad.mit.edu	37	7	48314705	48314705	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48314705G>T	ENST00000435803.1	+	17	5466	c.5442G>T	c.(5440-5442)gaG>gaT	p.E1814D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1814					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTCAGAGGCTTTAGCTT	0.373																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5440-5442)gaG>gaT		ATP-binding cassette, sub-family A (ABC1), member 13							35.0	34.0	35.0					7																	48314705		1823	4077	5900	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314705G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5442G>T	7.37:g.48314705G>T	ENSP00000411096:p.Glu1814Asp						p.E1814D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5466	+			1814					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5442G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.961	0.747030	0.15710	.	.	ENSG00000179869	ENST00000435803	T	0.16897	2.31	6.05	1.48	0.22813	.	0.420926	0.19939	N	0.102691	T	0.12347	0.0300	L	0.47716	1.5	0.09310	N	0.999998	B	0.25521	0.128	B	0.23275	0.045	T	0.18147	-1.0346	9	.	.	.	.	5.6426	0.17572	0.2602:0.0:0.6015:0.1383	.	1814	Q86UQ4	ABCAD_HUMAN	D	1814	ENSP00000411096:E1814D	.	E	+	3	2	ABCA13	48285251	0.031000	0.19500	0.016000	0.15963	0.233000	0.25261	-0.128000	0.10531	0.872000	0.35775	0.650000	0.86243	GAG		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	28	1	0	0.00909568	1	0.00947522	4	28				
ZNF44	51710	broad.mit.edu	37	19	12383810	12383810	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383810G>T	ENST00000356109.5	-	5	1522	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P	ZNF44_ENST00000355684.5_Silent_p.P420P	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCATTCATAGGGTTTCTCTC	0.433																																						ENST00000356109.5																			0				ovary(1)	1						c.(1402-1404)ccC>ccA		zinc finger protein 44							58.0	60.0	60.0					19																	12383810		2203	4300	6503	SO:0001819	synonymous_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383810G>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1404C>A	19.37:g.12383810G>T						ZNF44_ENST00000355684.5_Silent_p.P420P	p.P468P	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1522	-		Renal(1328;0.157)	468					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Silent	SNP	ENST00000356109.5	37	c.1404C>A	CCDS54223.1																																																																																				0.433	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		19	27	1	0	1.67942e-08	1	2.01326e-08	19	27				
PARP8	79668	broad.mit.edu	37	5	50123879	50123879	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50123879C>A	ENST00000281631.5	+	20	2237	c.2079C>A	c.(2077-2079)acC>acA	p.T693T	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Silent_p.T404T|PARP8_ENST00000503750.2_Silent_p.T651T|PARP8_ENST00000514067.2_Silent_p.T651T|PARP8_ENST00000505697.2_Silent_p.T693T|PARP8_ENST00000505554.1_Silent_p.T672T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	693	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTGGAAGCACCTTTGCATTTC	0.393																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2077-2079)acC>acA		poly (ADP-ribose) polymerase family, member 8							107.0	102.0	103.0					5																	50123879		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50123879C>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2079C>A	5.37:g.50123879C>A						PARP8_ENST00000505554.1_Silent_p.T672T|PARP8_ENST00000514067.2_Silent_p.T651T|PARP8_ENST00000505697.2_Silent_p.T693T|PARP8_ENST00000503750.2_Silent_p.T651T|PARP8_ENST00000514342.2_Silent_p.T404T|PARP8_ENST00000511363.2_3'UTR	p.T693T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			20	2237	+		Lung NSC(810;0.0305)|Breast(144;0.222)	693			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.2079C>A	CCDS3954.1																																																																																				0.393	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		7	71	1	0	0.307466	1	0.308846	7	71				
KIAA1244	57221	broad.mit.edu	37	6	138576703	138576703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138576703C>A	ENST00000251691.4	+	10	1067	c.901C>A	c.(901-903)Cac>Aac	p.H301N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTGTCTGACCACGGCCGAGG	0.617																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(901-903)Cac>Aac		KIAA1244							82.0	74.0	77.0					6																	138576703		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138576703C>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.901C>A	6.37:g.138576703C>A	ENSP00000251691:p.His301Asn						p.H301N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	10	1067	+	Breast(32;0.135)		301						Missense_Mutation	SNP	ENST00000251691.4	37	c.901C>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723094	0.30503	.	.	ENSG00000112379	ENST00000251691	T	0.17854	2.25	5.57	5.57	0.84162	.	0.274240	0.42548	D	0.000698	T	0.09512	0.0234	L	0.44542	1.39	0.58432	D	0.999992	B	0.21606	0.058	B	0.15870	0.014	T	0.07635	-1.0762	10	0.27785	T	0.31	-12.4876	19.5452	0.95291	0.0:1.0:0.0:0.0	.	301	Q5TH69	BIG3_HUMAN	N	301	ENSP00000251691:H301N	ENSP00000251691:H301N	H	+	1	0	KIAA1244	138618396	1.000000	0.71417	0.976000	0.42696	0.025000	0.11179	7.622000	0.83099	2.631000	0.89168	0.655000	0.94253	CAC		0.617	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	60	1	0	0.00198382	1	0.00210581	6	60				
ZNF93	81931	broad.mit.edu	37	19	20027398	20027398	+	Missense_Mutation	SNP	G	G	A	rs373401112		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20027398G>A	ENST00000343769.5	+	3	188	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Missense_Mutation_p.A54T|ZNF93_ENST00000591366.1_Missense_Mutation_p.A54T	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A54T(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGACCTGATCGCCCATCTGGA	0.403																																						ENST00000343769.5																			1	Substitution - Missense(1)	p.A54T(1)	endometrium(1)	endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(160-162)Gcc>Acc		zinc finger protein 93							101.0	104.0	103.0					19																	20027398		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20027398G>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.160G>A	19.37:g.20027398G>A	ENSP00000342002:p.Ala54Thr					ZNF93_ENST00000591366.1_Missense_Mutation_p.A54T|ZNF93_ENST00000592160.1_Missense_Mutation_p.A54T|AC007204.2_ENST00000592245.1_lincRNA	p.A54T	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			3	188	+			54			KRAB.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.160G>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	0.003	-2.575621	0.00131	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.00784	5.7	0.85	-1.7	0.08159	Krueppel-associated box (3);	.	.	.	.	T	0.00210	0.0006	N	0.00223	-1.815	0.09310	N	0.999998	B;B	0.13145	0.007;0.002	B;B	0.06405	0.002;0.002	T	0.39057	-0.9632	9	0.02654	T	1	.	1.4587	0.02391	0.3507:0.0:0.3194:0.33	.	54;54	P35789;P35789-2	ZNF93_HUMAN;.	T	54	ENSP00000342002:A54T	ENSP00000342002:A54T	A	+	1	0	ZNF93	19888398	0.011000	0.17503	0.054000	0.19295	0.054000	0.15201	-0.430000	0.06973	-1.351000	0.02197	-1.373000	0.01185	GCC		0.403	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		38	55	0	0	0	1	0	38	55				
PCDHGA7	56108	broad.mit.edu	37	5	140764376	140764376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140764376C>T	ENST00000518325.1	+	1	1910	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCCCTCAAGCAG	0.647																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1909-1911)gCc>gTc									35.0	43.0	40.0					5																	140764376		2201	4299	6500	SO:0001583	missense	0							g.chr5:140764376C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1910C>T	5.37:g.140764376C>T	ENSP00000430024:p.Ala637Val					PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A637V	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1910	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1910C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	6.933	0.541921	0.13250	.	.	ENSG00000253537	ENST00000518325	T	0.51817	0.69	4.9	4.02	0.46733	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.36386	0.0965	N	0.20328	0.56	0.09310	N	1	B;B	0.20550	0.046;0.04	B;B	0.36186	0.219;0.121	T	0.26950	-1.0088	9	0.56958	D	0.05	.	5.5254	0.16955	0.1682:0.6688:0.0:0.163	.	637;637	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	637	ENSP00000430024:A637V	ENSP00000430024:A637V	A	+	2	0	PCDHGA7	140744560	0.000000	0.05858	0.023000	0.16930	0.047000	0.14425	-0.369000	0.07533	2.413000	0.81919	0.655000	0.94253	GCC		0.647	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		6	22	0	0	0	1	0	6	22				
RNF216	54476	broad.mit.edu	37	7	5781361	5781361	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5781361G>T	ENST00000425013.2	-	4	426				RNF216_ENST00000389902.3_Missense_Mutation_p.P96H	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGACTTTTTAGGCCTTTCTTC	0.413																																						ENST00000389902.3																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(286-288)cCt>cAt		ring finger protein 216							128.0	121.0	124.0					7																	5781361		2203	4300	6503	SO:0001627	intron_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5781361G>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.202-86C>A	7.37:g.5781361G>T						RNF216_ENST00000425013.2_Intron	p.P96H			Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	554	-		Ovarian(82;0.07)	64					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.287C>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752135	0.69533	.	.	ENSG00000011275	ENST00000389902	T	0.51574	0.7	5.87	4.94	0.65067	.	0.376195	0.26404	N	0.024567	T	0.37517	0.1006	L	0.36672	1.1	0.30183	N	0.800194	B	0.20671	0.047	B	0.20955	0.032	T	0.17837	-1.0356	9	.	.	.	-12.5458	13.6177	0.62120	0.0:0.0:0.8456:0.1544	.	96	Q9NWF9-1	.	H	96	ENSP00000374552:P96H	.	P	-	2	0	RNF216	5747887	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.427000	0.44740	2.941000	0.99782	0.655000	0.94253	CCT		0.413	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		7	201	1	0	0.000157383	1	0.00017284	7	201				
ZNF354C	30832	broad.mit.edu	37	5	178506796	178506796	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178506796C>A	ENST00000315475.6	+	5	1669	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAAATCTAACCTTTATAGGCA	0.388																																						ENST00000315475.6																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1363-1365)Ctt>Att		zinc finger protein 354C							64.0	71.0	68.0					5																	178506796		2203	4298	6501	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506796C>A		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1363C>A	5.37:g.178506796C>A	ENSP00000324064:p.Leu455Ile						p.L455I	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1669	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	455					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1363C>A	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444569	0.63178	.	.	ENSG00000177932	ENST00000315475	T	0.53857	0.6	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75317	0.3833	M	0.87617	2.895	0.34253	D	0.679034	D	0.89917	1.0	D	0.97110	1.0	D	0.84716	0.0737	9	0.72032	D	0.01	-14.6883	14.4881	0.67631	0.0:1.0:0.0:0.0	.	455	Q86Y25	Z354C_HUMAN	I	455	ENSP00000324064:L455I	ENSP00000324064:L455I	L	+	1	0	ZNF354C	178439402	0.413000	0.25400	1.000000	0.80357	0.972000	0.66771	1.042000	0.30303	2.330000	0.79161	0.591000	0.81541	CTT		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			4	75	1	0	0.150653	1	0.152692	4	75				
ZNF852	285346	broad.mit.edu	37	3	44541424	44541424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44541424C>T	ENST00000436261.1	-	4	1005	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	ZNF852_ENST00000489411.1_5'UTR			Q6ZMS4	ZN852_HUMAN	zinc finger protein 852	282						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|lung(5)	8						ATTTTTACTCCGACTAAAGGC	0.423																																						ENST00000436261.1																			0				endometrium(2)|kidney(1)|lung(5)	8						c.(844-846)cGg>cAg		zinc finger protein 852																																				SO:0001583	missense	285346				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:44541424C>T	BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917		"""Zinc fingers, C2H2-type"", ""-"""	27713	protein-coding gene	gene with protein product							Standard	NM_001287349		Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.845G>A	3.37:g.44541424C>T	ENSP00000389841:p.Arg282Gln					ZNF852_ENST00000489411.1_5'UTR	p.R282Q			B6EU87	B6EU87_HUMAN			4	1005	-			282					B4DLD7	Missense_Mutation	SNP	ENST00000436261.1	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	C	0.005	-2.163222	0.00318	.	.	ENSG00000178917	ENST00000436261;ENST00000313378	T	0.35973	1.28	3.25	0.19	0.15125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	B	0.24721	0.11	B	0.15052	0.012	T	0.29181	-1.0020	8	0.05959	T	0.93	.	3.4537	0.07507	0.2043:0.5505:0.0:0.2452	.	248	Q6ZMS4	ZN852_HUMAN	Q	282	ENSP00000389841:R282Q	ENSP00000322569:R282Q	R	-	2	0	ZNF852	44516428	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-2.777000	0.00775	0.146000	0.19002	0.298000	0.19748	CGG		0.423	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344244.1	XM_001717402		16	14	0	0	0	1	0	16	14				
CLIC5	53405	broad.mit.edu	37	6	45870860	45870860	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:45870860A>G	ENST00000185206.6	-	6	1350	c.1198T>C	c.(1198-1200)Tac>Cac	p.Y400H	CLIC5_ENST00000339561.6_Missense_Mutation_p.Y241H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	400	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACATCAGCGTAGGCCAACTCG	0.587																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(1198-1200)Tac>Cac		chloride intracellular channel 5							143.0	109.0	121.0					6																	45870860		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45870860A>G	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1198T>C	6.37:g.45870860A>G	ENSP00000185206:p.Tyr400His					CLIC5_ENST00000339561.6_Missense_Mutation_p.Y241H	p.Y400H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			6	1350	-			400			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.1198T>C	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173560	0.78452	.	.	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95069	-3.6;-3.6	5.78	5.78	0.91487	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98024	0.9349	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99376	1.0921	10	0.87932	D	0	.	16.102	0.81178	1.0:0.0:0.0:0.0	.	400;241	Q9NZA1;Q53G01	CLIC5_HUMAN;.	H	400;241	ENSP00000185206:Y400H;ENSP00000344165:Y241H	ENSP00000185206:Y400H	Y	-	1	0	CLIC5	45978838	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	9.279000	0.95777	2.205000	0.71048	0.519000	0.50382	TAC		0.587	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			3	54	0	0	0	1	0	3	54				
SLC45A3	85414	broad.mit.edu	37	1	205633685	205633685	+	Missense_Mutation	SNP	C	C	T	rs149769508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205633685C>T	ENST00000367145.3	-	2	395	c.100G>A	c.(100-102)Gca>Aca	p.A34T	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	34					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGATGCCTGCGGCCAAACAC	0.592			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								C|||	1	0.000199681	0.0	0.0014	5008	,	,		19623	0.0		0.0	False		,,,				2504	0.0					ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(100-102)Gca>Aca		solute carrier family 45, member 3		C	THR/ALA	0,4406		0,0,2203	142.0	135.0	138.0		100	5.2	0.3	1	dbSNP_134	138	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SLC45A3	NM_033102.2	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	34/554	205633685	5,13001	2203	4300	6503	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205633685C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.100G>A	1.37:g.205633685C>T	ENSP00000356113:p.Ala34Thr						p.A34T	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	395	-	Breast(84;0.07)		34					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.100G>A	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340920	0.95783	0.0	5.81E-4	ENSG00000158715	ENST00000367145	D	0.92805	-3.11	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95831	0.8643	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94536	0.7740	10	0.29301	T	0.29	-12.2497	18.4523	0.90709	0.0:1.0:0.0:0.0	.	34	Q96JT2	S45A3_HUMAN	T	34	ENSP00000356113:A34T	ENSP00000356113:A34T	A	-	1	0	SLC45A3	203900308	1.000000	0.71417	0.329000	0.25429	0.863000	0.49368	4.908000	0.63307	2.456000	0.83038	0.561000	0.74099	GCA		0.592	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		8	114	0	0	0	1	0	8	114				
EXOC2	55770	broad.mit.edu	37	6	553879	553879	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:553879A>G	ENST00000230449.4	-	21	2231	c.2096T>C	c.(2095-2097)aTc>aCc	p.I699T	EXOC2_ENST00000448181.3_Missense_Mutation_p.I294T	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	699					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTTCATGGATACTTCCAAA	0.358																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2095-2097)aTc>aCc		exocyst complex component 2							132.0	119.0	124.0					6																	553879		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:553879A>G	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2096T>C	6.37:g.553879A>G	ENSP00000230449:p.Ile699Thr					EXOC2_ENST00000448181.3_Missense_Mutation_p.I294T	p.I699T	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	21	2231	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	699					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.2096T>C	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	A	5.330	0.246146	0.10130	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.20463	2.07;2.07	5.7	4.55	0.56014	.	0.166180	0.53938	N	0.000060	T	0.07234	0.0183	L	0.50333	1.59	0.53688	D	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.11108	-1.0601	10	0.09590	T	0.72	-0.558	11.4027	0.49878	0.9296:0.0:0.0704:0.0	.	699	Q96KP1	EXOC2_HUMAN	T	699;294	ENSP00000230449:I699T;ENSP00000398113:I294T	ENSP00000230449:I699T	I	-	2	0	EXOC2	498879	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	3.877000	0.56123	1.006000	0.39211	0.477000	0.44152	ATC		0.358	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		3	36	0	0	0	1	0	3	36				
C15orf27	123591	broad.mit.edu	37	15	76462158	76462158	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76462158C>T	ENST00000388942.3	+	6	734	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	153					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTTCCTCAGACTGTTCTACGG	0.493																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.e6-1		chromosome 15 open reading frame 27							307.0	308.0	307.0					15																	76462158		1920	4133	6053	SO:0001630	splice_region_variant	123591					integral to membrane		g.chr15:76462158C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.457-1C>T	15.37:g.76462158C>T							p.T153_splice	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			6	734	+			153					Q8N993|Q96LL5	Splice_Site	SNP	ENST00000388942.3	37	c.456_splice	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269145	0.59540	.	.	ENSG00000169758	ENST00000388942	D	0.96992	-4.2	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	D	0.96873	0.8979	L	0.43646	1.37	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.95655	0.8710	10	0.22706	T	0.39	-20.0309	17.5618	0.87910	0.0:1.0:0.0:0.0	.	153	Q2M3C6	CO027_HUMAN	I	153	ENSP00000373594:T153I	ENSP00000373594:T153I	T	+	2	0	C15orf27	74249213	1.000000	0.71417	0.935000	0.37517	0.688000	0.40055	6.968000	0.76086	2.375000	0.81037	0.650000	0.86243	ACT		0.493	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335	Missense_Mutation	12	253	0	0	0	1	0	12	253				
MCOLN2	255231	broad.mit.edu	37	1	85405352	85405352	+	Missense_Mutation	SNP	G	G	A	rs190903111		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85405352G>A	ENST00000370608.3	-	9	1061	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R304W	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	332					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CACACAGGCCGCTTGTACTTC	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20172	0.0		0.0	False		,,,				2504	0.0					ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(994-996)Cgg>Tgg		mucolipin 2							83.0	81.0	81.0					1																	85405352		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85405352G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.994C>T	1.37:g.85405352G>A	ENSP00000359640:p.Arg332Trp					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R304W	p.R332W	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	9	1061	-			332					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.994C>T	CCDS30762.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.63	3.436873	0.62955	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.79141	-1.24;-1.24	5.18	3.03	0.35002	.	0.186129	0.47852	D	0.000217	T	0.75657	0.3879	M	0.69823	2.125	0.27123	N	0.962082	D	0.76494	0.999	P	0.53185	0.72	T	0.71041	-0.4707	10	0.87932	D	0	-29.2906	14.2849	0.66240	0.0:0.0:0.6251:0.3748	.	332	Q8IZK6	MCLN2_HUMAN	W	332;304	ENSP00000359640:R332W;ENSP00000284027:R304W	ENSP00000284027:R304W	R	-	1	2	MCOLN2	85177940	0.997000	0.39634	0.932000	0.37286	0.792000	0.44763	4.387000	0.59626	1.138000	0.42230	0.563000	0.77884	CGG		0.438	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		28	71	0	0	0	1	0	28	71				
RNF31	55072	broad.mit.edu	37	14	24626551	24626551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24626551G>T	ENST00000324103.6	+	15	2866	c.2546G>T	c.(2545-2547)cGc>cTc	p.R849L	RNF31_ENST00000559275.1_Missense_Mutation_p.R698L|RNF31_ENST00000382687.3_Missense_Mutation_p.R698L|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R324L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	849					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AACTGGAAACGCATGAACGAC	0.562																																						ENST00000558468.1																			0											c.(970-972)cGc>cTc									75.0	82.0	80.0					14																	24626551		1987	4156	6143	SO:0001583	missense	0							g.chr14:24626551G>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2546G>T	14.37:g.24626551G>T	ENSP00000315112:p.Arg849Leu					RNF31_ENST00000382687.3_Missense_Mutation_p.R698L|RNF31_ENST00000324103.6_Missense_Mutation_p.R849L|RNF31_ENST00000559275.1_Missense_Mutation_p.R698L	p.R324L							7	971	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.971G>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511068	0.85389	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.77358	-1.09;-1.09	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.82761	0.5107	L	0.28458	0.855	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.989;1.0;1.0	D;P;D;D	0.87578	0.995;0.872;0.995;0.998	D	0.84347	0.0530	10	0.72032	D	0.01	-19.6302	17.9765	0.89129	0.0:0.0:1.0:0.0	.	849;608;849;698	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	L	282;849;698	ENSP00000315112:R849L;ENSP00000372134:R698L	ENSP00000315112:R849L	R	+	2	0	RNF31	23696391	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	5.334000	0.65923	2.779000	0.95612	0.637000	0.83480	CGC		0.562	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		9	28	1	0	0.00448238	1	0.00472561	9	28				
SPARCL1	8404	broad.mit.edu	37	4	88412805	88412805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88412805G>A	ENST00000282470.6	-	5	1726	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	SPARCL1_ENST00000418378.1_Missense_Mutation_p.T419M|SPARCL1_ENST00000503414.1_Missense_Mutation_p.T294M	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	419			T -> A (in dbSNP:rs1130643).		signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCACTTGACGTTTCCTCCTC	0.398																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1255-1257)aCg>aTg		SPARC-like 1 (hevin)							299.0	238.0	258.0					4																	88412805		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88412805G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1256C>T	4.37:g.88412805G>A	ENSP00000282470:p.Thr419Met					SPARCL1_ENST00000282470.6_Missense_Mutation_p.T419M|SPARCL1_ENST00000503414.1_Missense_Mutation_p.T294M	p.T419M	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	6	1827	-			419		T -> A (in dbSNP:rs1130643).			B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1256C>T	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420482	0.25639	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.89939	-2.59;-2.59;-2.59	5.18	1.56	0.23342	.	1.245570	0.04943	N	0.459008	T	0.77552	0.4147	N	0.14661	0.345	0.09310	N	1	D	0.58620	0.983	B	0.41299	0.353	T	0.69610	-0.5099	10	0.40728	T	0.16	3.0442	1.7792	0.03028	0.1181:0.3713:0.2776:0.233	.	419	Q14515	SPRL1_HUMAN	M	419;419;294;294	ENSP00000282470:T419M;ENSP00000414856:T419M;ENSP00000422903:T294M	ENSP00000282470:T419M	T	-	2	0	SPARCL1	88631829	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.314000	0.08092	0.140000	0.18849	-0.140000	0.14226	ACG		0.398	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			27	45	0	0	0	1	0	27	45				
FOXI1	2299	broad.mit.edu	37	5	169535395	169535395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169535395C>A	ENST00000306268.6	+	2	978	c.917C>A	c.(916-918)cCt>cAt	p.P306H	FOXI1_ENST00000449804.2_Missense_Mutation_p.P211H			Q12951	FOXI1_HUMAN	forkhead box I1	306					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACTGAGCCCTGAGCCCAGT	0.617									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(631-633)cCt>cAt		forkhead box I1							81.0	72.0	75.0					5																	169535395		2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535395C>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.917C>A	5.37:g.169535395C>A	ENSP00000304286:p.Pro306His					FOXI1_ENST00000306268.6_Missense_Mutation_p.P306H	p.P211H	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	677	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	306					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.632C>A	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	3.137	-0.177084	0.06380	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94457	-3.39;-3.43	5.0	1.71	0.24356	.	0.951049	0.08778	N	0.895178	D	0.92355	0.7574	L	0.60455	1.87	0.09310	N	1	P;P	0.41569	0.755;0.641	B;B	0.42386	0.386;0.215	D	0.83744	0.0205	10	0.46703	T	0.11	.	6.213	0.20640	0.23:0.5849:0.0:0.1851	.	211;306	Q12951-2;Q12951	.;FOXI1_HUMAN	H	306;211	ENSP00000304286:P306H;ENSP00000415483:P211H	ENSP00000304286:P306H	P	+	2	0	FOXI1	169467973	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.150000	0.16263	0.470000	0.27294	0.561000	0.74099	CCT		0.617	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		5	49	1	0	0.0381472	1	0.0390147	5	49				
BRWD1	54014	broad.mit.edu	37	21	40685224	40685224	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40685224C>A	ENST00000333229.2	-	2	378	c.51G>T	c.(49-51)gaG>gaT	p.E17D	BRWD1_ENST00000380800.3_Splice_Site_p.E17D|BRWD1-AS1_ENST00000423274.2_RNA|BRWD1-IT2_ENST00000603064.1_RNA|BRWD1_ENST00000341322.4_Splice_Site_p.E17D|BRWD1_ENST00000342449.3_Splice_Site_p.E17D|BRWD1_ENST00000470108.1_5'UTR	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	17					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAAGTACAGCTCTGCGGGAA	0.741																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.e2-1		bromodomain and WD repeat domain containing 1							9.0	10.0	9.0					21																	40685224		2074	4062	6136	SO:0001630	splice_region_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40685224C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.50-1G>T	21.37:g.40685224C>A						BRWD1_ENST00000341322.4_Splice_Site_p.E17_splice|BRWD1_ENST00000333229.2_Splice_Site_p.E17_splice|BRWD1_ENST00000380800.3_Splice_Site_p.E17_splice|BRWD1_ENST00000470108.1_5'UTR	p.E17_splice	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			2	129	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	17					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Splice_Site	SNP	ENST00000333229.2	37	c.49_splice	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208771	0.79240	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	3.33	0.26	0.15588	.	0.000000	0.53938	U	0.000054	T	0.50769	0.1635	M	0.80847	2.515	0.40772	D	0.98309	P;D;D	0.76494	0.868;0.999;0.98	B;D;D	0.81914	0.416;0.995;0.952	T	0.51631	-0.8681	10	0.72032	D	0.01	.	8.5014	0.33161	0.0:0.708:0.0:0.292	.	17;17;17	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	D	17	ENSP00000330753:E17D;ENSP00000344333:E17D;ENSP00000370178:E17D;ENSP00000342106:E17D	ENSP00000330753:E17D	E	-	3	2	BRWD1	39607094	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	0.916000	0.28651	0.071000	0.16664	0.400000	0.26472	GAG		0.741	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	Missense_Mutation	3	4	1	0	4.096e-09	1	4.95403e-09	3	4				
COL11A2	1302	broad.mit.edu	37	6	33153518	33153518	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33153518T>C	ENST00000341947.2	-	6	1063	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374712.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000361917.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	279	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACATCATAATAGGGGGGCTC	0.532																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(835-837)tAt>tGt		collagen, type XI, alpha 2							83.0	105.0	97.0					6																	33153518		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33153518T>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.836A>G	6.37:g.33153518T>C	ENSP00000339915:p.Tyr279Cys					COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000357486.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000361917.1_Intron	p.Y279C	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			6	1063	-			279			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000341947.2	37	c.836A>G		.	.	.	.	.	.	.	.	.	.	T	4.133	0.022940	0.08006	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000395197;ENST00000374712;ENST00000457788	D;D;D;D;D	0.90563	-2.39;-2.38;-2.5;-2.52;-2.69	3.8	1.15	0.20763	.	1.623940	0.04154	U	0.321773	T	0.68796	0.3040	N	0.22421	0.69	0.80722	D	1	B	0.34181	0.44	B	0.19148	0.024	T	0.65882	-0.6060	10	0.51188	T	0.08	.	4.2646	0.10757	0.2034:0.0:0.2112:0.5854	.	279	P13942	COBA2_HUMAN	C	279	ENSP00000339915:Y279C;ENSP00000350079:Y279C;ENSP00000378623:Y279C;ENSP00000363844:Y279C;ENSP00000405520:Y279C	ENSP00000339915:Y279C	Y	-	2	0	COL11A2	33261496	1.000000	0.71417	0.985000	0.45067	0.143000	0.21401	2.435000	0.44811	0.121000	0.18284	0.247000	0.18012	TAT		0.532	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				10	61	0	0	0	1	0	10	61				
CCNB1IP1	57820	broad.mit.edu	37	14	20784616	20784616	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20784616C>A	ENST00000398169.3	-	5	683	c.67G>T	c.(67-69)Gca>Tca	p.A23S	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.A23S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	23					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GTGACCCATGCATAGCCAGAG	0.473			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(67-69)Gca>Tca		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							111.0	101.0	104.0					14																	20784616		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20784616C>A	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.67G>T	14.37:g.20784616C>A	ENSP00000381235:p.Ala23Ser					CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.A23S	p.A23S			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	5	683	-	all_cancers(95;0.00092)	all_lung(585;0.235)	23						Missense_Mutation	SNP	ENST00000398169.3	37	c.67G>T	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833138	0.91036	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665;ENST00000556563	D;D;D;D;D;D;T	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;2.26	6.07	5.18	0.71444	.	0.051121	0.85682	D	0.000000	D	0.91821	0.7412	M	0.72894	2.215	0.43647	D	0.996053	P	0.52061	0.95	P	0.49502	0.613	D	0.89295	0.3622	10	0.19590	T	0.45	-14.5198	10.3624	0.44003	0.0:0.8496:0.0:0.1504	.	23	Q9NPC3	CIP1_HUMAN	S	23;23;23;23;23;23;23;54	ENSP00000381226:A23S;ENSP00000381235:A23S;ENSP00000351810:A23S;ENSP00000337396:A23S;ENSP00000409896:A23S;ENSP00000381229:A23S;ENSP00000452486:A23S	ENSP00000337396:A23S	A	-	1	0	CCNB1IP1	19854456	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.292000	0.65673	1.578000	0.49821	0.655000	0.94253	GCA		0.473	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		5	66	1	0	0.0215528	1	0.0221649	5	66				
TBC1D8	11138	broad.mit.edu	37	2	101654024	101654024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101654024C>T	ENST00000376840.4	-	8	1376	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q	TBC1D8_ENST00000409318.1_Silent_p.Q474Q			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	459					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GGCTGCCTGACTGCTGGAAGG	0.597																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1420-1422)caG>caA		TBC1 domain family, member 8 (with GRAM domain)							75.0	82.0	80.0					2																	101654024		1955	4135	6090	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101654024C>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1377G>A	2.37:g.101654024C>T						TBC1D8_ENST00000376840.4_Silent_p.Q459Q	p.Q474Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			8	1552	-			459					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.1422G>A	CCDS46375.1																																																																																				0.597	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		29	57	0	0	0	1	0	29	57				
ZNF681	148213	broad.mit.edu	37	19	23926698	23926698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23926698G>A	ENST00000402377.3	-	4	1795	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.H483Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTACCTTATGTGTAGCAAGA	0.383																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1654-1656)Cat>Tat		zinc finger protein 681							49.0	51.0	50.0					19																	23926698		2203	4299	6502	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23926698G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1654C>T	19.37:g.23926698G>A	ENSP00000384000:p.His552Tyr					ZNF681_ENST00000395385.3_Missense_Mutation_p.H483Y	p.H552Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1795	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	552					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1654C>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	12.83	2.054874	0.36277	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	D;D	0.86769	-2.17;-2.17	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94032	0.8088	M	0.93197	3.39	0.28543	N	0.911994	D	0.89917	1.0	D	0.91635	0.999	D	0.86285	0.1670	9	0.87932	D	0	.	8.4797	0.33034	0.0:0.0:1.0:0.0	.	552	Q96N22	ZN681_HUMAN	Y	552;483	ENSP00000384000:H552Y;ENSP00000378783:H483Y	ENSP00000378783:H483Y	H	-	1	0	ZNF681	23718538	1.000000	0.71417	0.027000	0.17364	0.015000	0.08874	4.724000	0.61972	0.798000	0.33994	0.313000	0.20887	CAT		0.383	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		11	23	0	0	0	1	0	11	23				
MYOM2	9172	broad.mit.edu	37	8	2026940	2026940	+	Missense_Mutation	SNP	C	C	T	rs144104874		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2026940C>T	ENST00000262113.4	+	12	1529	c.1388C>T	c.(1387-1389)gCg>gTg	p.A463V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	463	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.A463V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGAACAGTGCGGGCATCAGC	0.537																																						ENST00000262113.4																			1	Substitution - Missense(1)	p.A463V(1)	large_intestine(1)	autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1387-1389)gCg>gTg		myomesin 2		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	154.0	165.0	162.0		1388	4.7	0.1	8	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	463/1466	2026940	2,13004	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2026940C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1388C>T	8.37:g.2026940C>T	ENSP00000262113:p.Ala463Val					MYOM2_ENST00000523438.1_Intron	p.A463V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	12	1529	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	463			Fibronectin type-III 1.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1388C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907117	0.52333	2.27E-4	1.16E-4	ENSG00000036448	ENST00000262113	T	0.57273	0.41	4.71	4.71	0.59529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149518	0.43579	D	0.000553	T	0.66470	0.2792	L	0.53729	1.69	0.80722	D	1	D	0.67145	0.996	P	0.62813	0.907	T	0.66964	-0.5790	10	0.44086	T	0.13	.	18.0367	0.89305	0.0:1.0:0.0:0.0	.	463	P54296	MYOM2_HUMAN	V	463	ENSP00000262113:A463V	ENSP00000262113:A463V	A	+	2	0	MYOM2	2014347	0.921000	0.31238	0.064000	0.19789	0.292000	0.27327	3.745000	0.55119	2.308000	0.77769	0.561000	0.74099	GCG		0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		8	234	0	0	0	1	0	8	234				
KIF17	57576	broad.mit.edu	37	1	21016709	21016709	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21016709C>T	ENST00000247986.2	-	7	1663	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	KIF17_ENST00000375044.1_Silent_p.T351T|KIF17_ENST00000400463.3_Silent_p.T451T|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	451					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.T451T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCCTCCAGCGTGGACAGCC	0.627																																						ENST00000247986.2																			1	Substitution - coding silent(1)	p.T451T(1)	ovary(1)	NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1351-1353)acG>acA		kinesin family member 17							56.0	49.0	52.0					1																	21016709		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21016709C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1353G>A	1.37:g.21016709C>T						KIF17_ENST00000375044.1_Silent_p.T351T|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.T451T	p.T451T			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	7	1663	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	451					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1353G>A	CCDS213.1																																																																																				0.627	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		6	58	0	0	0	1	0	6	58				
IL16	3603	broad.mit.edu	37	15	81517878	81517878	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81517878G>T	ENST00000302987.4	+	1	138	c.138G>T	c.(136-138)gaG>gaT	p.E46D	IL16_ENST00000394660.2_Missense_Mutation_p.E46D			Q14005	IL16_HUMAN	interleukin 16	46					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATCCCTTTGAGATTTCCTTGG	0.522																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(136-138)gaG>gaT		interleukin 16							86.0	86.0	86.0					15																	81517878		1996	4179	6175	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517878G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.138G>T	15.37:g.81517878G>T	ENSP00000302935:p.Glu46Asp					IL16_ENST00000302987.4_Missense_Mutation_p.E46D	p.E46D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			2	498	+			46					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.138G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	5.421	0.262923	0.10294	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.13538	2.58;2.58	4.18	2.31	0.28768	.	0.191061	0.25388	N	0.031037	T	0.12433	0.0302	L	0.53249	1.67	0.37578	D	0.919691	B;B	0.27013	0.104;0.166	B;B	0.28709	0.043;0.093	T	0.09574	-1.0668	10	0.36615	T	0.2	.	6.2013	0.20577	0.1672:0.1516:0.6812:0.0	.	46;46	Q14005;Q14005-2	IL16_HUMAN;.	D	46;88;46;46	ENSP00000378155:E46D;ENSP00000302935:E46D	ENSP00000302935:E46D	E	+	3	2	IL16	79304933	0.815000	0.29118	0.018000	0.16275	0.069000	0.16628	1.017000	0.29989	0.425000	0.26087	-0.244000	0.11960	GAG		0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		18	42	1	0	8.28177e-16	1	1.06505e-15	18	42				
ACSS2	55902	broad.mit.edu	37	20	33501965	33501965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501965G>A	ENST00000360596.2	+	6	921	c.710G>A	c.(709-711)tGt>tAt	p.C237Y	ACSS2_ENST00000253382.5_Missense_Mutation_p.C237Y|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.C187Y	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	237					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGCAGAAGTGTCAGGAGAAG	0.532																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(709-711)tGt>tAt		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						96.0	101.0	99.0					20																	33501965		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33501965G>A	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.710G>A	20.37:g.33501965G>A	ENSP00000353804:p.Cys237Tyr					ACSS2_ENST00000336325.4_Missense_Mutation_p.C187Y|ACSS2_ENST00000253382.5_Missense_Mutation_p.C237Y|ACSS2_ENST00000476922.1_Intron	p.C237Y	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			6	921	+			237					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.710G>A	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281527	0.80692	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000253382	T;T;T	0.49720	0.77;2.84;2.84	5.24	5.24	0.73138	AMP-dependent synthetase/ligase (1);	0.043149	0.85682	D	0.000000	T	0.70979	0.3286	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.76071	0.987;0.976	T	0.73953	-0.3820	10	0.72032	D	0.01	-11.8268	19.0207	0.92915	0.0:0.0:1.0:0.0	.	237;237	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Y	187;237;237;237	ENSP00000337190:C187Y;ENSP00000353804:C237Y;ENSP00000253382:C237Y	ENSP00000253382:C237Y	C	+	2	0	ACSS2	32965626	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.186000	0.94906	2.729000	0.93468	0.655000	0.94253	TGT		0.532	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		6	23	0	0	0	1	0	6	23				
TAB2	23118	broad.mit.edu	37	6	149718775	149718775	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149718775C>T	ENST00000367456.1	+	5	2216	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	TAB2_ENST00000536230.1_Missense_Mutation_p.L515F|TAB2_ENST00000286332.5_Missense_Mutation_p.L547F|TAB2_ENST00000538427.1_Missense_Mutation_p.L547F|SUMO4_ENST00000326669.4_5'Flank			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	547					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AATGGAACGACTTCAAAGAGA	0.373																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1639-1641)Ctt>Ttt		TGF-beta activated kinase 1/MAP3K7 binding protein 2							140.0	158.0	152.0					6																	149718775		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149718775C>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1639C>T	6.37:g.149718775C>T	ENSP00000356426:p.Leu547Phe					TAB2_ENST00000286332.5_Missense_Mutation_p.L547F|TAB2_ENST00000538427.1_Missense_Mutation_p.L547F|TAB2_ENST00000536230.1_Missense_Mutation_p.L515F	p.L547F			Q9NYJ8	TAB2_HUMAN			5	2216	+			547					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1639C>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640658	0.67244	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	T	0.47799	-0.9089	10	0.87932	D	0	-12.9654	19.2766	0.94034	0.0:1.0:0.0:0.0	.	515;547	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	F	515;547;547;547	ENSP00000443206:L515F;ENSP00000445752:L547F;ENSP00000356426:L547F;ENSP00000286332:L547F	ENSP00000286332:L547F	L	+	1	0	TAB2	149760468	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	3.447000	0.52936	2.618000	0.88619	0.563000	0.77884	CTT		0.373	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			90	158	0	0	0	1	0	90	158				
ACTN2	88	broad.mit.edu	37	1	236917269	236917269	+	Missense_Mutation	SNP	G	G	A	rs368040932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236917269G>A	ENST00000366578.4	+	16	2028	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ACTN2_ENST00000542672.1_Missense_Mutation_p.R621H|ACTN2_ENST00000546208.1_Missense_Mutation_p.R115H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	621					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTGCCCATCCGCGATCAATCC	0.587																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1861-1863)cGc>cAc		actinin, alpha 2			HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	105.0	106.0		1862	5.3	1.0	1		106	0,8600		0,0,4300	no	missense	ACTN2	NM_001103.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	621/895	236917269	1,13005	2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236917269G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1862G>A	1.37:g.236917269G>A	ENSP00000355537:p.Arg621His					ACTN2_ENST00000546208.1_Missense_Mutation_p.R115H|ACTN2_ENST00000542672.1_Missense_Mutation_p.R621H	p.R621H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		16	2028	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	621					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1862G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218910	0.95104	2.27E-4	0.0	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.80123	-1.34;-1.34;-1.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.92067	0.7486	M	0.91510	3.215	0.80722	D	1	D;P;D;D	0.76494	0.999;0.952;0.999;0.999	D;P;D;D	0.81914	0.98;0.616;0.98;0.995	D	0.93684	0.7001	10	0.87932	D	0	.	18.9055	0.92458	0.0:0.0:1.0:0.0	.	406;621;391;621	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	H	621;621;115;390	ENSP00000443495:R621H;ENSP00000355537:R621H;ENSP00000438384:R115H	ENSP00000355537:R621H	R	+	2	0	ACTN2	234983892	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.745000	0.98856	2.446000	0.82766	0.650000	0.86243	CGC		0.587	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		36	90	0	0	0	1	0	36	90				
OVOL2	58495	broad.mit.edu	37	20	18005549	18005549	+	Missense_Mutation	SNP	G	G	A	rs552512283		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:18005549G>A	ENST00000278780.6	-	4	801	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	187					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGAGAGCAGCGCTGGGTGAAG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20059	0.0		0.0	False		,,,				2504	0.0					ENST00000278780.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(559-561)Cgc>Tgc		ovo-like zinc finger 2							110.0	108.0	109.0					20																	18005549		2203	4300	6503	SO:0001583	missense	58495				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:18005549G>A	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.559C>T	20.37:g.18005549G>A	ENSP00000278780:p.Arg187Cys					OVOL2_ENST00000483661.1_5'UTR	p.R187C	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN			4	801	-			187					Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	c.559C>T	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706812	0.89018	.	.	ENSG00000125850	ENST00000278780	T	0.07800	3.16	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00138	-1.2002	10	0.87932	D	0	-49.9694	14.0172	0.64531	0.0:0.0:0.8488:0.1512	.	187	Q9BRP0	OVOL2_HUMAN	C	187	ENSP00000278780:R187C	ENSP00000278780:R187C	R	-	1	0	OVOL2	17953549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.838000	0.86804	2.497000	0.84241	0.655000	0.94253	CGC		0.552	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		9	56	0	0	0	1	0	9	56				
OR1L4	254973	broad.mit.edu	37	9	125486357	125486357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125486357C>T	ENST00000259466.1	+	1	89	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCTCTTTGCCATCTTCCTC	0.507																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(88-90)gCc>gTc		olfactory receptor, family 1, subfamily L, member 4							224.0	208.0	214.0					9																	125486357		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486357C>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.89C>T	9.37:g.125486357C>T	ENSP00000259466:p.Ala30Val						p.A30V	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	89	+			30					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.89C>T	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	0.096	-1.160120	0.01686	.	.	ENSG00000136939	ENST00000259466	T	0.00384	7.6	3.94	-2.04	0.07343	.	0.472963	0.17731	N	0.163897	T	0.00109	0.0003	N	0.02830	-0.485	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29792	-1.0000	10	0.40728	T	0.16	-6.7625	4.397	0.11367	0.0:0.2166:0.3378:0.4456	.	30	Q8NGR5	OR1L4_HUMAN	V	30	ENSP00000259466:A30V	ENSP00000259466:A30V	A	+	2	0	OR1L4	124526178	0.000000	0.05858	0.704000	0.30370	0.206000	0.24218	-1.255000	0.02872	-0.269000	0.09298	-0.680000	0.03767	GCC		0.507	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			49	58	0	0	0	1	0	49	58				
P2RY2	5029	broad.mit.edu	37	11	72946019	72946019	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946019G>A	ENST00000311131.2	+	3	1282	c.815G>A	c.(814-816)cGc>cAc	p.R272H	P2RY2_ENST00000393597.2_Missense_Mutation_p.R272H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R272H	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	272					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TACTCCTTCCGCTCGCTGGAC	0.632																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(814-816)cGc>cAc		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						103.0	93.0	96.0					11																	72946019		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946019G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.815G>A	11.37:g.72946019G>A	ENSP00000310305:p.Arg272His					P2RY2_ENST00000393597.2_Missense_Mutation_p.R272H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R272H	p.R272H	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1282	+			272					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.815G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807511	0.70797	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.20598	2.06;2.06;2.06	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.81112	2.525	0.48696	D	0.999693	D	0.89917	1.0	D	0.97110	1.0	T	0.57539	-0.7794	10	0.72032	D	0.01	.	16.0309	0.80577	0.0:0.0:1.0:0.0	.	272	P41231	P2RY2_HUMAN	H	272	ENSP00000377222:R272H;ENSP00000310305:R272H;ENSP00000377221:R272H	ENSP00000310305:R272H	R	+	2	0	P2RY2	72623667	0.991000	0.36638	0.999000	0.59377	0.984000	0.73092	3.666000	0.54540	2.092000	0.63282	0.561000	0.74099	CGC		0.632	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		15	21	0	0	0	1	0	15	21				
MYO15A	51168	broad.mit.edu	37	17	18060286	18060286	+	Missense_Mutation	SNP	G	G	A	rs372191526		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18060286G>A	ENST00000205890.5	+	49	8958	c.8620G>A	c.(8620-8622)Gct>Act	p.A2874T	MYO15A_ENST00000418233.3_Missense_Mutation_p.A138T|MYO15A_ENST00000451725.2_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2874	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACGTGGTCGCTGTGAGGAA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17463	0.0		0.0	False		,,,				2504	0.001					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8620-8622)Gct>Act		myosin XVA		G	THR/ALA	0,4308		0,0,2154	61.0	67.0	65.0		8620	5.0	0.8	17		65	1,8511		0,1,4255	no	missense	MYO15A	NM_016239.3	58	0,1,6409	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	2874/3531	18060286	1,12819	2154	4256	6410	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18060286G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8620G>A	17.37:g.18060286G>A	ENSP00000205890:p.Ala2874Thr					MYO15A_ENST00000418233.3_Missense_Mutation_p.A138T	p.A2874T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			49	8958	+	all_neural(463;0.228)		2874			SH3.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8620G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479625	0.63849	0.0	1.17E-4	ENSG00000091536	ENST00000205890;ENST00000536811	T	0.36340	1.26	5.04	5.04	0.67666	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	T	0.64450	0.2599	M	0.82823	2.61	0.80722	D	1	P;D;D	0.89917	0.701;0.992;1.0	B;P;D	0.91635	0.159;0.816;0.999	T	0.69343	-0.5170	9	0.56958	D	0.05	.	17.4107	0.87485	0.0:0.0:1.0:0.0	.	73;138;2874	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	T	2874;73	ENSP00000205890:A2874T	ENSP00000205890:A2874T	A	+	1	0	MYO15A	18001011	1.000000	0.71417	0.789000	0.31954	0.984000	0.73092	7.543000	0.82106	2.345000	0.79718	0.555000	0.69702	GCT		0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	45	0	0	0	1	0	4	45				
NUCB1	4924	broad.mit.edu	37	19	49422352	49422352	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422352G>A	ENST00000405315.4	+	9	1216	c.882G>A	c.(880-882)ctG>ctA	p.L294L	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Silent_p.L294L|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000263273.5_Silent_p.L294L	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	294	Binds to GNAI2 and GNAI3. {ECO:0000250}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGGAGCGACTGCGCATGCGGG	0.607																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(880-882)ctG>ctA		nucleobindin 1							54.0	56.0	55.0					19																	49422352		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422352G>A	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.882G>A	19.37:g.49422352G>A						NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Silent_p.L294L|NUCB1_ENST00000263273.5_Silent_p.L294L	p.L294L	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	9	1216	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	294			Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.882G>A	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610068	0.28712	.	.	ENSG00000104805	ENST00000424608	.	.	.	5.01	-0.11	0.13580	.	.	.	.	.	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48043	-0.9069	4	.	.	.	.	8.1668	0.31230	0.0779:0.0:0.5224:0.3997	.	.	.	.	Y	264	.	.	C	+	2	0	NUCB1	54114164	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.376000	0.34306	0.214000	0.20742	-0.216000	0.12614	TGC		0.607	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		8	23	0	0	0	1	0	8	23				
USO1	8615	broad.mit.edu	37	4	76695832	76695832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76695832G>A	ENST00000538159.1	+	8	565	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	USO1_ENST00000514213.2_Missense_Mutation_p.V172I			O60763	USO1_HUMAN	USO1 vesicle transport factor	187	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTATAGGGCGTCTTACTACT	0.348																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(565-567)Gtc>Atc		USO1 vesicle transport factor							79.0	70.0	73.0					4																	76695832		1847	4078	5925	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76695832G>A	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.565G>A	4.37:g.76695832G>A	ENSP00000440586:p.Val189Ile					USO1_ENST00000514213.2_Missense_Mutation_p.V172I	p.V189I			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	565	+			187			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.565G>A		.	.	.	.	.	.	.	.	.	.	G	12.45	1.940955	0.34283	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.48522	0.81;0.81	5.7	5.7	0.88788	Armadillo-type fold (2);	0.071037	0.53938	D	0.000055	T	0.23806	0.0576	N	0.04335	-0.225	0.42079	D	0.991243	B;B	0.31413	0.322;0.015	B;B	0.23018	0.043;0.013	T	0.18555	-1.0333	10	0.13853	T	0.58	.	15.3418	0.74303	0.0:0.139:0.861:0.0	.	189;187	F5GYR8;O60763	.;USO1_HUMAN	I	22;189;172;115	ENSP00000440586:V189I;ENSP00000444850:V172I	ENSP00000264904:V115I	V	+	1	0	USO1	76914856	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.196000	0.58407	2.705000	0.92388	0.650000	0.86243	GTC		0.348	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		6	44	0	0	0	1	0	6	44				
TNN	63923	broad.mit.edu	37	1	175116130	175116130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175116130C>T	ENST00000239462.4	+	19	3936	c.3823C>T	c.(3823-3825)Cgc>Tgc	p.R1275C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1275	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGAAAATCCGCCCTCATGG	0.527											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3823-3825)Cgc>Tgc		tenascin N							63.0	62.0	62.0					1																	175116130		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116130C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3823C>T	1.37:g.175116130C>T	ENSP00000239462:p.Arg1275Cys		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.R1275C	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3936	+		Breast(1374;0.000962)	1275			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3823C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312834	0.95655	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.81078	-1.45	5.8	5.8	0.92144	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96898	0.9658	10	0.87932	D	0	.	19.6456	0.95775	0.0:1.0:0.0:0.0	.	1275	Q9UQP3	TENN_HUMAN	C	1275;1098	ENSP00000239462:R1275C	ENSP00000239462:R1275C	R	+	1	0	TNN	173382753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.447000	0.60020	2.736000	0.93811	0.579000	0.79373	CGC		0.527	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		10	47	0	0	0	1	0	10	47				
UNC13A	23025	broad.mit.edu	37	19	17759323	17759323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17759323G>A	ENST00000519716.2	-	16	1732	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V	UNC13A_ENST00000551649.1_Missense_Mutation_p.A578V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A578V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A578V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A576V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A666V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	578					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCCCTGCCTCGCGATGCCCCA	0.652																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1996-1998)gCg>gTg		unc-13 homolog A (C. elegans)							90.0	96.0	94.0					19																	17759323		2199	4300	6499	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17759323G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1733C>T	19.37:g.17759323G>A	ENSP00000429562:p.Ala578Val					UNC13A_ENST00000552293.1_Missense_Mutation_p.A578V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A578V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A576V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A578V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A578V	p.A666V			Q9UPW8	UN13A_HUMAN			17	1996	-			578			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1997C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	g	34	5.342781	0.95783	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.35	4.35	0.52113	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	U	0.000000	D	0.92825	0.7718	L	0.27975	0.815	0.52501	D	0.999955	D	0.56968	0.978	P	0.59012	0.85	D	0.93963	0.7242	10	0.87932	D	0	-26.0269	14.6907	0.69083	0.0:0.0:1.0:0.0	.	578	Q9UPW8	UN13A_HUMAN	V	578;666;578;578;578;576	ENSP00000429562:A578V;ENSP00000400409:A666V;ENSP00000252773:A578V;ENSP00000447236:A578V;ENSP00000447572:A578V;ENSP00000446831:A576V	ENSP00000252773:A578V	A	-	2	0	UNC13A	17620323	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.567000	0.98161	2.126000	0.65437	0.486000	0.48141	GCG		0.652	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		10	15	0	0	0	1	0	10	15				
MSH6	2956	broad.mit.edu	37	2	48030802	48030802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48030802G>A	ENST00000234420.5	+	5	3568	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.G1009D|MSH6_ENST00000538136.1_Missense_Mutation_p.G837D	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1139					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATGGGGGGCAAGTCTACG	0.378			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3415-3417)gGc>gAc	Mismatch excision repair (MMR)	mutS homolog 6							103.0	100.0	101.0					2																	48030802		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48030802G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3416G>A	2.37:g.48030802G>A	ENSP00000234420:p.Gly1139Asp					MSH6_ENST00000540021.1_Missense_Mutation_p.G1009D|MSH6_ENST00000538136.1_Missense_Mutation_p.G837D|FBXO11_ENST00000405808.1_Intron	p.G1139D	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	3568	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1139					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.3416G>A	CCDS1836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.298321|5.298321	0.95574|0.95574	.|.	.|.	ENSG00000116062|ENSG00000116062	ENST00000543270|ENST00000234420;ENST00000540021;ENST00000538136	.|D;D;D	.|0.99652	.|-6.3;-6.3;-6.3	5.75|5.75	5.75|5.75	0.90469|0.90469	.|DNA mismatch repair protein MutS, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99849|0.99849	0.9930|0.9930	H|H	0.98936|0.98936	4.375|4.375	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96656|0.96656	0.9485|0.9485	6|10	0.87932|0.87932	D|D	0|0	-14.23|-14.23	19.9478|19.9478	0.97189|0.97189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1009;1139	.|B4DF41;P52701	.|.;MSH6_HUMAN	T|D	106|1139;1009;837	.|ENSP00000234420:G1139D;ENSP00000446475:G1009D;ENSP00000438580:G837D	ENSP00000445199:A106T|ENSP00000234420:G1139D	A|G	+|+	1|2	0|0	MSH6|MSH6	47884306|47884306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.835000|9.835000	0.99442|0.99442	2.712000|2.712000	0.92718|0.92718	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.378	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		48	65	0	0	0	1	0	48	65				
KIAA0368	23392	broad.mit.edu	37	9	114195561	114195561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114195561C>T	ENST00000338205.5	-	7	1019	c.800G>A	c.(799-801)cGc>cAc	p.R267H	KIAA0368_ENST00000259335.4_Missense_Mutation_p.R445H			Q5VYK3	ECM29_HUMAN	KIAA0368	273					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CACACTGTGGCGTGTATCACT	0.423																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1333-1335)cGc>cAc		KIAA0368							105.0	101.0	102.0					9																	114195561		1940	4134	6074	SO:0001583	missense	23392							g.chr9:114195561C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.800G>A	9.37:g.114195561C>T	ENSP00000339889:p.Arg267His					KIAA0368_ENST00000338205.5_Missense_Mutation_p.R267H	p.R445H	NM_001080398.1	NP_001073867.1					9	1333	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.1334G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.556868	0.96514	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.47177	0.85	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69191	-0.5210	10	0.49607	T	0.09	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	273	Q5VYK3	ECM29_HUMAN	H	267;445	ENSP00000259335:R445H	ENSP00000259335:R445H	R	-	2	0	KIAA0368	113235382	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.456000	0.80751	2.817000	0.96982	0.563000	0.77884	CGC		0.423	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		27	27	0	0	0	1	0	27	27				
SLCO2A1	6578	broad.mit.edu	37	3	133653645	133653645	+	Missense_Mutation	SNP	G	G	A	rs148426132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133653645G>A	ENST00000310926.4	-	14	2117	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A539V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	615					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CATGCCCAGCGCCTTGTAGCC	0.632																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1843-1845)gCg>gTg		solute carrier organic anion transporter family, member 2A1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	76.0	79.0		1844	-0.9	0.0	3	dbSNP_134	79	0,8600		0,0,4300	no	missense	SLCO2A1	NM_005630.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	615/644	133653645	1,13005	2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133653645G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1844C>T	3.37:g.133653645G>A	ENSP00000311291:p.Ala615Val					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A539V	p.A615V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			14	2117	-			615					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1844C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	8.119	0.780417	0.16120	2.27E-4	0.0	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.51071	1.22;0.72	5.77	-0.874	0.10631	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.792915	0.12150	N	0.494977	T	0.28699	0.0711	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.28902	-1.0029	10	0.06891	T	0.86	.	11.5454	0.50690	0.7344:0.0:0.2656:0.0	.	539;615	E7EU40;Q92959	.;SO2A1_HUMAN	V	615;539	ENSP00000311291:A615V;ENSP00000418893:A539V	ENSP00000311291:A615V	A	-	2	0	SLCO2A1	135136335	0.001000	0.12720	0.039000	0.18376	0.994000	0.84299	0.260000	0.18424	-0.199000	0.10317	0.561000	0.74099	GCG		0.632	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		12	23	0	0	0	1	0	12	23				
MPDZ	8777	broad.mit.edu	37	9	13119520	13119520	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13119520G>A	ENST00000319217.7	-	39	5607	c.5360C>T	c.(5359-5361)gCg>gTg	p.A1787V	MPDZ_ENST00000536827.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1787V|MPDZ_ENST00000541093.1_Missense_Mutation_p.A21V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1787V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A646V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1787V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1801V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1787	PDZ 11. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGCGGCAACCGCTTCTTGGGT	0.388																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(5359-5361)gCg>gTg		multiple PDZ domain protein							149.0	145.0	147.0					9																	13119520		1865	4105	5970	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13119520G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5360C>T	9.37:g.13119520G>A	ENSP00000320006:p.Ala1787Val					MPDZ_ENST00000546205.1_Missense_Mutation_p.A1801V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1787V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1787V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1787V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A646V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000541093.1_Missense_Mutation_p.A21V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1754V	p.A1787V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	39	5607	-			1787			PDZ 11.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5360C>T		.	.	.	.	.	.	.	.	.	.	G	11.98	1.801625	0.31869	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.43294	0.98;0.95;0.95;0.98;0.95;0.98;0.98;0.95;0.98;0.98;0.98	6.03	4.21	0.49690	PDZ/DHR/GLGF (4);	0.000000	0.46758	D	0.000276	T	0.50205	0.1602	L	0.41124	1.26	0.42422	D	0.992642	D;P;B;D;D;D;P;B	0.89917	1.0;0.89;0.014;1.0;0.975;1.0;0.89;0.004	D;B;B;D;P;D;B;B	0.70716	0.97;0.322;0.015;0.95;0.532;0.95;0.418;0.009	T	0.39820	-0.9595	10	0.28530	T	0.3	.	10.2823	0.43548	0.2007:0.0:0.7993:0.0	.	1754;646;492;1754;1667;1787;1787;480	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	V	1787;1787;1787;328;21;723;646;1754;1754;1787;1667;1801	ENSP00000320006:A1787V;ENSP00000439807:A1787V;ENSP00000370410:A1787V;ENSP00000415964:A328V;ENSP00000445259:A21V;ENSP00000444230:A723V;ENSP00000444717:A646V;ENSP00000444151:A1754V;ENSP00000415208:A1754V;ENSP00000370403:A1787V;ENSP00000446358:A1801V	ENSP00000320006:A1787V	A	-	2	0	MPDZ	13109520	1.000000	0.71417	0.894000	0.35097	0.482000	0.33219	4.682000	0.61671	0.894000	0.36317	-0.137000	0.14449	GCG		0.388	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		13	82	0	0	0	1	0	13	82				
PNISR	25957	broad.mit.edu	37	6	99860437	99860437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99860437C>T	ENST00000369239.5	-	4	471	c.267G>A	c.(265-267)atG>atA	p.M89I	PNISR_ENST00000438806.1_Missense_Mutation_p.M89I|PNISR_ENST00000466057.1_5'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	89						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGGTTGCCACATTCTGTTGA	0.323																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(265-267)atG>atA		PNN-interacting serine/arginine-rich protein							88.0	80.0	83.0					6																	99860437		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99860437C>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.267G>A	6.37:g.99860437C>T	ENSP00000358242:p.Met89Ile					PNISR_ENST00000438806.1_Missense_Mutation_p.M89I|PNISR_ENST00000466057.1_5'UTR	p.M89I	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			4	471	-			89					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.267G>A	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835665	0.50951	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.44881	0.91;0.91	5.82	5.82	0.92795	.	0.161988	0.64402	D	0.000002	T	0.34629	0.0904	N	0.24115	0.695	0.51233	D	0.999914	P;P	0.39044	0.656;0.6	P;B	0.48627	0.584;0.233	T	0.18366	-1.0339	10	0.51188	T	0.08	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	89;89	E1P5D4;Q8TF01	.;PNISR_HUMAN	I	89	ENSP00000358242:M89I;ENSP00000387997:M89I	ENSP00000358242:M89I	M	-	3	0	PNISR	99967158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.459000	0.53021	2.760000	0.94817	0.655000	0.94253	ATG		0.323	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		25	39	0	0	0	1	0	25	39				
PTPRB	5787	broad.mit.edu	37	12	70981023	70981023	+	Missense_Mutation	SNP	C	C	T	rs3960114		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70981023C>T	ENST00000261266.5	-	7	1450	c.1421G>A	c.(1420-1422)cGt>cAt	p.R474H	PTPRB_ENST00000538708.1_Missense_Mutation_p.R474H|PTPRB_ENST00000551525.1_Missense_Mutation_p.R691H|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.R692H|PTPRB_ENST00000550857.1_Missense_Mutation_p.R384H|PTPRB_ENST00000334414.6_Missense_Mutation_p.R692H|PTPRB_ENST00000451516.2_Missense_Mutation_p.R384H	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	474	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTTTGACACGAAGCTGGAG	0.463																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(2074-2076)cGt>cAt		protein tyrosine phosphatase, receptor type, B							66.0	63.0	64.0					12																	70981023		1999	4173	6172	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70981023C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1421G>A	12.37:g.70981023C>T	ENSP00000261266:p.Arg474His					PTPRB_ENST00000538708.1_Missense_Mutation_p.R474H|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.R691H|PTPRB_ENST00000550857.1_Missense_Mutation_p.R384H|PTPRB_ENST00000550358.1_Missense_Mutation_p.R692H|PTPRB_ENST00000261266.5_Missense_Mutation_p.R474H|PTPRB_ENST00000451516.2_Missense_Mutation_p.R384H	p.R692H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		9	2119	-	Renal(347;0.236)		474			Fibronectin type-III 8.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2075G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191939	0.38707	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.240432	0.42420	D	0.000702	T	0.47002	0.1422	L	0.46947	1.48	0.41293	D	0.986994	B;B;B;B;B;B;B	0.30068	0.018;0.018;0.267;0.225;0.021;0.011;0.034	B;B;B;B;B;B;B	0.25987	0.022;0.022;0.065;0.039;0.016;0.023;0.038	T	0.40627	-0.9553	10	0.21540	T	0.41	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	384;474;571;691;692;474;692	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	H	692;384;692;692;474;384;474;691;571	ENSP00000334928:R692H;ENSP00000393028:R384H;ENSP00000448058:R692H;ENSP00000438927:R474H;ENSP00000447302:R384H;ENSP00000261266:R474H;ENSP00000448349:R691H;ENSP00000446982:R571H	ENSP00000261266:R474H	R	-	2	0	PTPRB	69267290	0.995000	0.38212	0.991000	0.47740	0.984000	0.73092	3.185000	0.50934	2.368000	0.80403	0.557000	0.71058	CGT		0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			6	35	0	0	0	1	0	6	35				
SMC2	10592	broad.mit.edu	37	9	106887381	106887381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106887381C>T	ENST00000286398.7	+	18	2734	c.2446C>T	c.(2446-2448)Caa>Taa	p.Q816*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.Q816*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	816					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAAGAAAAACAACAGGTAAT	0.373																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2446-2448)Caa>Taa		structural maintenance of chromosomes 2							85.0	93.0	90.0					9																	106887381		2203	4300	6503	SO:0001587	stop_gained	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106887381C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2446C>T	9.37:g.106887381C>T	ENSP00000286398:p.Gln816*					SMC2_ENST00000374793.3_Nonsense_Mutation_p.Q816*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.Q816*	p.Q816*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			18	2734	+			816					Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	ENST00000286398.7	37	c.2446C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	42	9.679562	0.99237	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	4.93	4.93	0.64822	.	0.115972	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.4835	15.3524	0.74399	0.0:1.0:0.0:0.0	.	.	.	.	X	816	.	ENSP00000286398:Q816X	Q	+	1	0	SMC2	105927202	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.839000	0.62810	2.725000	0.93324	0.591000	0.81541	CAA		0.373	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			38	68	0	0	0	1	0	38	68				
RANBP2	5903	broad.mit.edu	37	2	109368449	109368449	+	Splice_Site	SNP	C	C	T	rs121434502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109368449C>T	ENST00000283195.6	+	12	1880	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	585			T -> M (in IIAE3). {ECO:0000269|PubMed:19118815}.		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTCAGAAAACGGTGAGTTTT	0.338																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129	GRCh37	CM090148	RANBP2	M	rs121434502	c.e12+1		RAN binding protein 2							128.0	155.0	145.0					2																	109368449		1511	2709	4220	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109368449C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1755+1C>T	2.37:g.109368449C>T							p.T585_splice	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			12	1880	+			585		T -> M (associated with ANE1).			Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.1755_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914915	0.52546	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27890	1.64	4.93	3.93	0.45458	.	.	.	.	.	T	0.24392	0.0591	L	0.46157	1.445	0.28785	N	0.899621	B	0.27286	0.174	B	0.15484	0.013	T	0.12553	-1.0543	9	0.33141	T	0.24	-1.035	8.3534	0.32316	0.1484:0.766:0.0:0.0855	.	585	P49792	RBP2_HUMAN	M	585	ENSP00000283195:T585M	ENSP00000283195:T585M	T	+	2	0	RANBP2	108734881	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.346000	0.52190	1.001000	0.39076	0.650000	0.86243	ACG		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Missense_Mutation	37	97	0	0	0	1	0	37	97				
UBE3C	9690	broad.mit.edu	37	7	157041083	157041083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157041083G>A	ENST00000348165.5	+	19	2863	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	835	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAACATGCTGGTGGAGCTGCC	0.473																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2503-2505)Gtg>Atg		ubiquitin protein ligase E3C							94.0	94.0	94.0					7																	157041083		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041083G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2503G>A	7.37:g.157041083G>A	ENSP00000309198:p.Val835Met						p.V835M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	2863	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	835			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2503G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944689	0.92593	.	.	ENSG00000009335	ENST00000348165	T	0.59364	0.27	5.74	5.74	0.90152	HECT (4);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.79258	2.445	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.64687	0.928;0.928	T	0.79050	-0.1962	10	0.87932	D	0	-31.684	19.9122	0.97029	0.0:0.0:1.0:0.0	.	835;688	Q15386;B4DHJ9	UBE3C_HUMAN;.	M	835	ENSP00000309198:V835M	ENSP00000309198:V835M	V	+	1	0	UBE3C	156733844	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.502000	0.97981	2.702000	0.92279	0.655000	0.94253	GTG		0.473	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		35	84	0	0	0	1	0	35	84				
MXRA5	25878	broad.mit.edu	37	X	3235911	3235911	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3235911G>A	ENST00000217939.6	-	6	5965	c.5811C>T	c.(5809-5811)gaC>gaT	p.D1937D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1937	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCACCATCCTGTCCAGGCCGT	0.537																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5809-5811)gaC>gaT		matrix-remodelling associated 5							120.0	84.0	96.0					X																	3235911		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235911G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5811C>T	X.37:g.3235911G>A							p.D1937D	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	5965	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1937			Ig-like C2-type 3.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.5811C>T	CCDS14124.1																																																																																				0.537	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	59	0	0	0	1	0	6	59				
PHKA1	5255	broad.mit.edu	37	X	71876093	71876093	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71876093C>T	ENST00000373542.4	-	10	1078		c.e10-1		PHKA1_ENST00000373545.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GATTGGGATCCTAGTAAAAAC	0.368																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.e10-1		phosphorylase kinase, alpha 1 (muscle)							87.0	73.0	78.0					X																	71876093		2203	4300	6503	SO:0001630	splice_region_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71876093C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.919-1G>A	X.37:g.71876093C>T						PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site				P46020	KPB1_HUMAN			10	1357	-	Renal(35;0.156)							B7ZL05|B7ZL07|Q2M3D7	Splice_Site	SNP	ENST00000373542.4	37		CCDS14421.1	.	.	.	.	.	.	.	.	.	.	c	17.93	3.508309	0.64410	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0434	0.71807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA1	71792818	1.000000	0.71417	0.991000	0.47740	0.678000	0.39670	7.405000	0.80007	2.138000	0.66242	0.425000	0.28330	.		0.368	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		Intron	37	38	0	0	0	1	0	37	38				
MYO7A	4647	broad.mit.edu	37	11	76868017	76868017	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76868017G>T	ENST00000409709.3	+	7	974	c.702G>T	c.(700-702)caG>caT	p.Q234H	MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223H|MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234H|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	234	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATTGAGCAGTACCTGCTGG	0.597																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(700-702)caG>caT		myosin VIIA							74.0	80.0	78.0					11																	76868017		2052	4179	6231	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76868017G>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.702G>T	11.37:g.76868017G>T	ENSP00000386331:p.Gln234His					MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234H|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223H|MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234H	p.Q234H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			7	974	+			234			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.702G>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	g	18.97	3.735025	0.69189	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.2	2.28	0.28536	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.86497	0.5947	N	0.20445	0.575	0.58432	D	0.999994	D;D;D	0.89917	0.988;0.957;1.0	P;P;D	0.91635	0.884;0.723;0.999	D	0.83357	0.0000	10	0.40728	T	0.16	.	10.7492	0.46198	0.2028:0.0:0.7972:0.0	.	234;234;234	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	H	234;234;234;223;233;233;233;233	ENSP00000386331:Q234H;ENSP00000386689:Q234H;ENSP00000392185:Q234H;ENSP00000386635:Q223H	ENSP00000345075:Q233H	Q	+	3	2	MYO7A	76545665	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.128000	0.57951	0.193000	0.20303	0.651000	0.88453	CAG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		25	58	1	0	7.92952e-12	1	9.92272e-12	25	58				
TCEAL6	158931	broad.mit.edu	37	X	101396115	101396115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101396115C>A	ENST00000372774.3	-	3	438	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.K63N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	63	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCTGGCTTCCCTTATCTTCCA	0.617																																						ENST00000372774.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(187-189)aaG>aaT		transcription elongation factor A (SII)-like 6							154.0	129.0	137.0					X																	101396115		2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396115C>A	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.189G>T	X.37:g.101396115C>A	ENSP00000361860:p.Lys63Asn					TCEAL6_ENST00000372773.1_Missense_Mutation_p.K63N	p.K63N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	438	-			63			Glu-rich.		Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.189G>T	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308076	0.23821	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.23950	1.88;1.88	2.44	2.44	0.29823	.	.	.	.	.	T	0.19886	0.0478	L	0.36672	1.1	0.09310	N	1	B	0.25904	0.137	B	0.21917	0.037	T	0.13845	-1.0494	9	0.40728	T	0.16	.	10.1792	0.42957	0.0:1.0:0.0:0.0	.	63	Q6IPX3-2	.	N	63	ENSP00000361860:K63N;ENSP00000361859:K63N	ENSP00000361859:K63N	K	-	3	2	TCEAL6	101282771	0.000000	0.05858	0.012000	0.15200	0.146000	0.21551	-0.169000	0.09911	1.503000	0.48686	0.468000	0.43344	AAG		0.617	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		39	73	1	0	5.71845e-15	1	7.32261e-15	39	73				
TSPAN4	7106	broad.mit.edu	37	11	866626	866626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:866626C>T	ENST00000397404.1	+	9	972	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPAN4_ENST00000409543.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.A257V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.A204V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	238					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTACTGCGCGTAGGCCGCC	0.652																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(712-714)gCg>gTg		tetraspanin 4							104.0	76.0	85.0					11																	866626		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:866626C>T	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.713C>T	11.37:g.866626C>T	ENSP00000380553:p.Ala238Val					TSPAN4_ENST00000346501.4_Missense_Mutation_p.A204V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.A257V	p.A238V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	972	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	238					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.713C>T	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958538	0.34565	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000346501;ENST00000409531	T;T;T;T;T;T;T;T;T;T	0.47177	1.29;1.29;0.97;1.29;1.29;1.29;0.97;1.29;0.85;1.26	4.2	3.28	0.37604	.	.	.	.	.	T	0.25121	0.0610	N	0.08118	0	0.40308	D	0.978687	B	0.31209	0.313	B	0.19391	0.025	T	0.15292	-1.0442	9	0.87932	D	0	.	10.2297	0.43247	0.0:0.9059:0.0:0.0941	.	238	O14817	TSN4_HUMAN	V	238;238;174;238;238;238;174;238;204;257	ENSP00000380552:A238V;ENSP00000380558:A238V;ENSP00000380551:A174V;ENSP00000380555:A238V;ENSP00000380554:A238V;ENSP00000386513:A238V;ENSP00000431943:A174V;ENSP00000380553:A238V;ENSP00000324304:A204V;ENSP00000386899:A257V	ENSP00000324304:A204V	A	+	2	0	TSPAN4	856626	0.995000	0.38212	0.209000	0.23619	0.081000	0.17604	4.018000	0.57174	1.010000	0.39314	0.196000	0.17591	GCG		0.652	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			6	12	0	0	0	1	0	6	12				
DHX8	1659	broad.mit.edu	37	17	41568556	41568556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41568556G>T	ENST00000262415.3	+	4	403	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.E111*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	111					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTAAAACAGAAAAAGAAAA	0.318																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(331-333)Gaa>Taa		DEAH (Asp-Glu-Ala-His) box polypeptide 8							54.0	57.0	56.0					17																	41568556		2203	4300	6503	SO:0001587	stop_gained	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41568556G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.331G>T	17.37:g.41568556G>T	ENSP00000262415:p.Glu111*					DHX8_ENST00000540306.1_Nonsense_Mutation_p.E111*	p.E111*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	4	403	+		Breast(137;0.00908)	111						Nonsense_Mutation	SNP	ENST00000262415.3	37	c.331G>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	37	6.370944	0.97511	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.95	5.95	0.96441	.	0.152990	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000262415:E111X	E	+	1	0	DHX8	38924082	1.000000	0.71417	0.916000	0.36221	0.960000	0.62799	8.029000	0.88807	2.824000	0.97209	0.655000	0.94253	GAA		0.318	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			23	32	1	0	3.73988e-18	1	4.86822e-18	23	32				
TBC1D14	57533	broad.mit.edu	37	4	7026800	7026800	+	Silent	SNP	C	C	T	rs372772582		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7026800C>T	ENST00000409757.4	+	13	1951	c.1827C>T	c.(1825-1827)cgC>cgT	p.R609R	TBC1D14_ENST00000448507.1_Silent_p.R609R|TBC1D14_ENST00000410031.1_Silent_p.R381R|TBC1D14_ENST00000451522.2_Silent_p.R329R|TBC1D14_ENST00000446947.2_Silent_p.R256R	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	609	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTCTGTCGCGATGGGGAAG	0.507																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1825-1827)cgC>cgT		TBC1 domain family, member 14		C	,,	0,4406		0,0,2203	167.0	150.0	156.0		1827,987,1827	-10.3	0.1	4		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TBC1D14	NM_001113361.1,NM_001113363.1,NM_020773.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	609/694,329/414,609/694	7026800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:7026800C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1827C>T	4.37:g.7026800C>T						TBC1D14_ENST00000446947.2_Silent_p.R256R|TBC1D14_ENST00000410031.1_Silent_p.R381R|TBC1D14_ENST00000448507.1_Silent_p.R609R|TBC1D14_ENST00000451522.2_Silent_p.R329R	p.R609R	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			13	1951	+			609			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.1827C>T	CCDS3394.2																																																																																				0.507	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		68	112	0	0	0	1	0	68	112				
TRIM16	10626	broad.mit.edu	37	17	15554452	15554452	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15554452T>C	ENST00000578237.1	-	6	1327	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	TRIM16_ENST00000336708.7_Missense_Mutation_p.S158G|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.S158G|RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000416464.2_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	158					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GTGTGGCCACTGTGCTCCTGG	0.617																																						ENST00000455584.2																			0											c.(472-474)Agt>Ggt									109.0	98.0	101.0					17																	15554452		2203	4300	6503	SO:0001583	missense	0							g.chr17:15554452T>C	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.472A>G	17.37:g.15554452T>C	ENSP00000463188:p.Ser158Gly					TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.S158G|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.S158G	p.S158G							1	515	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.472A>G	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	t	14.45	2.539130	0.45176	.	.	ENSG00000221926	ENST00000336708	T	0.44881	0.91	5.54	0.108	0.14548	Zinc finger, B-box (3);	0.334770	0.25172	U	0.032598	T	0.24353	0.0590	N	0.11560	0.145	0.20703	N	0.999861	B;B	0.28971	0.229;0.159	B;B	0.31101	0.124;0.078	T	0.33317	-0.9873	10	0.72032	D	0.01	.	12.9679	0.58494	0.0:0.0:0.504:0.496	.	158;172	O95361;Q59EB2	TRI16_HUMAN;.	G	158	ENSP00000338989:S158G	ENSP00000338989:S158G	S	-	1	0	TRIM16	15495177	0.098000	0.21812	0.777000	0.31699	0.721000	0.41392	0.299000	0.19138	0.350000	0.24002	0.460000	0.39030	AGT		0.617	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		5	45	0	0	0	1	0	5	45				
PIGO	84720	broad.mit.edu	37	9	35090505	35090505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35090505G>T	ENST00000378617.3	-	8	3206	c.2812C>A	c.(2812-2814)Cta>Ata	p.L938I	PIGO_ENST00000298004.5_Missense_Mutation_p.L521I|PIGO_ENST00000341666.3_Missense_Mutation_p.L938I|PIGO_ENST00000361778.2_Missense_Mutation_p.L521I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	938				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTCCCACTAGCAAAGCAGGC	0.557																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2812-2814)Cta>Ata		phosphatidylinositol glycan anchor biosynthesis, class O							49.0	43.0	45.0					9																	35090505		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090505G>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2812C>A	9.37:g.35090505G>T	ENSP00000367880:p.Leu938Ile					PIGO_ENST00000361778.2_Missense_Mutation_p.L521I|PIGO_ENST00000298004.5_Missense_Mutation_p.L521I|PIGO_ENST00000341666.3_Missense_Mutation_p.L938I	p.L938I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	3206	-			938	PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).				B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2812C>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847867	0.71603	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.4	4.51	0.55191	.	0.000000	0.64402	D	0.000002	D	0.90717	0.7087	M	0.83603	2.65	0.23720	N	0.997022	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.84052	0.0370	10	0.46703	T	0.11	-7.1085	13.1534	0.59503	0.0759:0.0:0.924:0.0	.	521;938	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	521;938;938;521	ENSP00000298004:L521I;ENSP00000367880:L938I;ENSP00000339382:L938I;ENSP00000354678:L521I	ENSP00000298004:L521I	L	-	1	2	PIGO	35080505	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.045000	0.64220	1.521000	0.48983	0.655000	0.94253	CTA		0.557	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		13	24	1	0	4.36969e-10	1	5.35656e-10	13	24				
TIE1	7075	broad.mit.edu	37	1	43770805	43770805	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770805G>A	ENST00000372476.3	+	2	421	c.342G>A	c.(340-342)acG>acA	p.T114T	TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000441333.2_Silent_p.T114T|TIE1_ENST00000538015.1_Silent_p.T114T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	114					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCGGCGCACGCGCGTCATCT	0.701																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(340-342)acG>acA		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							31.0	34.0	33.0					1																	43770805		2202	4299	6501	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770805G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.342G>A	1.37:g.43770805G>A						TIE1_ENST00000441333.2_Silent_p.T114T|TIE1_ENST00000538015.1_Silent_p.T114T	p.T114T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			2	421	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	114					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.342G>A	CCDS482.1																																																																																				0.701	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		4	13	0	0	0	1	0	4	13				
SNURF	8926	broad.mit.edu	37	15	25207266	25207266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25207266G>A	ENST00000577949.1	+	2	83	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R7H|SNURF_ENST00000338094.6_Missense_Mutation_p.R7H|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.R7H			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	7						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TTCAGGGATCGCTTACACCTG	0.408																																						ENST00000338094.6																			0				breast(2)|large_intestine(2)|lung(1)	5						c.(19-21)cGc>cAc		SNRPN upstream reading frame							140.0	120.0	127.0					15																	25207266		2203	4300	6503	SO:0001583	missense	8926							g.chr15:25207266G>A		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.20G>A	15.37:g.25207266G>A	ENSP00000463201:p.Arg7His					SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R7H|SNRPN_ENST00000400098.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R7H	p.R7H	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2				all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	2	81	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)						A6NCW2	Missense_Mutation	SNP	ENST00000577949.1	37	c.20G>A	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.576779	0.28092	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.76	2.84	0.33178	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.27131	N	0.961894	B	0.23937	0.094	B	0.11329	0.006	T	0.17410	-1.0370	7	0.15952	T	0.53	-3.2506	7.4705	0.27347	0.118:0.0:0.882:0.0	.	7	Q9Y675	SNURF_HUMAN	H	7	.	ENSP00000336543:R7H	R	+	2	0	SNURF	22758359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.850000	0.48294	1.177000	0.42855	0.655000	0.94253	CGC		0.408	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		23	34	0	0	0	1	0	23	34				
GTF3C5	9328	broad.mit.edu	37	9	135926232	135926232	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926232G>A	ENST00000372097.5	+	4	958	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GTF3C5_ENST00000372108.5_Missense_Mutation_p.R212H|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R203H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.R87H|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R212H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	212					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R212H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGAGCCCGGCGCCCCCACAAT	0.587																																						ENST00000372097.5																			1	Substitution - Missense(1)	p.R212H(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(634-636)cGc>cAc		general transcription factor IIIC, polypeptide 5, 63kDa							59.0	58.0	58.0					9																	135926232		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135926232G>A	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.635G>A	9.37:g.135926232G>A	ENSP00000361169:p.Arg212His					GTF3C5_ENST00000342018.8_Missense_Mutation_p.R212H|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R203H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R212H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.R87H	p.R212H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	4	958	+			212					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.635G>A	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374599	0.95923	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.55234	0.73;0.71;0.73;0.53	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72527	-0.4266	10	0.31617	T	0.26	-4.7154	18.0209	0.89254	0.0:0.0:1.0:0.0	.	212;212	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	H	212;165;203;87;62;212;212;87	ENSP00000361169:R212H;ENSP00000361171:R203H;ENSP00000361180:R212H;ENSP00000339530:R212H	ENSP00000339530:R212H	R	+	2	0	GTF3C5	134916053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.197000	0.94985	2.490000	0.84030	0.561000	0.74099	CGC		0.587	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		20	41	0	0	0	1	0	20	41				
SLC25A3	5250	broad.mit.edu	37	12	98992475	98992475	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98992475T>C	ENST00000228318.3	+	5	758	c.638T>C	c.(637-639)cTa>cCa	p.L213P	SLC25A3_ENST00000401722.3_Missense_Mutation_p.L212P|SLC25A3_ENST00000549338.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000552981.1_Missense_Mutation_p.L212P|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000548847.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000188376.5_Missense_Mutation_p.L212P|SLC25A3_ENST00000551917.1_Missense_Mutation_p.L213P	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	213					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAAGAAGGCCTAAAAGCGTAA	0.338																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(634-636)cTa>cCa		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							45.0	43.0	44.0					12																	98992475		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98992475T>C		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.638T>C	12.37:g.98992475T>C	ENSP00000228318:p.Leu213Pro					SLC25A3_ENST00000549338.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000548847.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000401722.3_Missense_Mutation_p.L212P|SLC25A3_ENST00000551917.1_Missense_Mutation_p.L213P|SLC25A3_ENST00000228318.3_Missense_Mutation_p.L213P|SLC25A3_ENST00000552981.1_Missense_Mutation_p.L212P	p.L212P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	4	989	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	213					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.635T>C	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.216237	0.58452	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	6.17	6.17	0.99709	Mitochondrial carrier domain (2);	0.259009	0.36167	N	0.002760	T	0.76314	0.3970	L	0.35542	1.07	0.80722	D	1	B;B;B;B	0.19706	0.029;0.007;0.038;0.013	B;B;B;B	0.29267	0.069;0.078;0.1;0.069	T	0.72104	-0.4391	10	0.56958	D	0.05	-6.0908	16.8222	0.85835	0.0:0.0:0.0:1.0	.	212;212;213;212	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	P	212;212;213;213;212;212;212	ENSP00000383898:L212P;ENSP00000188376:L212P;ENSP00000228318:L213P;ENSP00000447310:L213P;ENSP00000448708:L212P;ENSP00000447740:L212P;ENSP00000449166:L212P	ENSP00000188376:L212P	L	+	2	0	SLC25A3	97516606	0.997000	0.39634	0.070000	0.20053	0.988000	0.76386	7.583000	0.82559	2.371000	0.80710	0.533000	0.62120	CTA		0.338	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		4	33	0	0	0	1	0	4	33				
IGSF22	283284	broad.mit.edu	37	11	18741651	18741651	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18741651C>A	ENST00000513874.1	-	6	618		c.e6-1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTCTTGACCTGAGGATAGA	0.517																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.e6-1		immunoglobulin superfamily, member 22							107.0	103.0	104.0					11																	18741651		1914	4117	6031	SO:0001630	splice_region_variant	283284							g.chr11:18741651C>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.479-1G>T	11.37:g.18741651C>A						RP11-1081L13.4_ENST00000527285.1_RNA		NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			6	618	-								A6NNA0|D6RGV7	Splice_Site	SNP	ENST00000513874.1	37		CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402026	0.42613	.	.	ENSG00000179057	ENST00000513874	.	.	.	5.02	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2648	0.43449	0.3566:0.6434:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18698227	0.986000	0.35501	0.981000	0.43875	0.819000	0.46315	2.255000	0.43222	1.060000	0.40578	0.557000	0.71058	.		0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	4	58	1	0	0.00024832	1	0.0002712	4	58				
MSX1	4487	broad.mit.edu	37	4	4864565	4864565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4864565G>A	ENST00000382723.4	+	2	841	c.607G>A	c.(607-609)Gcg>Acg	p.A203T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	203					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCCGAGCGCGCGGAGTTCTC	0.627																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(607-609)Gcg>Acg		msh homeobox 1							40.0	45.0	43.0					4																	4864565		2203	4300	6503	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864565G>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.607G>A	4.37:g.4864565G>A	ENSP00000372170:p.Ala203Thr					MSX1_ENST00000468421.1_3'UTR	p.A203T	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	841	+			197					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.607G>A	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	G	36	5.801700	0.96960	.	.	ENSG00000163132	ENST00000382723	D	0.96168	-3.93	4.84	4.84	0.62591	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97755	1.0217	10	0.87932	D	0	-9.1337	18.3263	0.90255	0.0:0.0:1.0:0.0	.	197	P28360	MSX1_HUMAN	T	203	ENSP00000372170:A203T	ENSP00000372170:A203T	A	+	1	0	MSX1	4915466	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.628000	0.98415	2.391000	0.81399	0.462000	0.41574	GCG		0.627	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			24	32	0	0	0	1	0	24	32				
STIM1	6786	broad.mit.edu	37	11	3988848	3988848	+	Missense_Mutation	SNP	G	G	A	rs376734394		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3988848G>A	ENST00000300737.4	+	2	775	c.206G>A	c.(205-207)cGt>cAt	p.R69H	STIM1_ENST00000527651.1_Missense_Mutation_p.R69H	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	69	EF-hand.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGCAGTCCGTAACATCCAC	0.458																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(205-207)cGt>cAt		stromal interaction molecule 1		G	HIS/ARG	0,4402		0,0,2201	226.0	194.0	205.0		206	5.8	1.0	11		205	1,8595	1.2+/-3.3	0,1,4297	no	missense	STIM1	NM_003156.3	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	69/686	3988848	1,12997	2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:3988848G>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.206G>A	11.37:g.3988848G>A	ENSP00000300737:p.Arg69His					STIM1_ENST00000527651.1_Missense_Mutation_p.R69H	p.R69H	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	2	775	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	69			EF-hand.		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.206G>A	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623059	0.87460	0.0	1.16E-4	ENSG00000167323	ENST00000300737;ENST00000527651	T;T	0.78707	-0.21;-1.2	5.76	5.76	0.90799	.	0.054078	0.64402	D	0.000001	T	0.72732	0.3497	L	0.40543	1.245	0.80722	D	1	D;D	0.53462	0.96;0.96	P;P	0.45794	0.493;0.493	T	0.73827	-0.3860	10	0.46703	T	0.11	-6.6867	12.4073	0.55447	0.0:0.0:0.8321:0.1679	.	69;69	E9PQJ4;Q13586	.;STIM1_HUMAN	H	69	ENSP00000300737:R69H;ENSP00000436208:R69H	ENSP00000300737:R69H	R	+	2	0	STIM1	3945424	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.930000	0.70104	2.726000	0.93360	0.655000	0.94253	CGT		0.458	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		35	49	0	0	0	1	0	35	49				
SLCO4C1	353189	broad.mit.edu	37	5	101593758	101593758	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101593758C>A	ENST00000310954.6	-	7	1448	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1162-1164)Gtt>Ttt		solute carrier organic anion transporter family, member 4C1							49.0	53.0	51.0					5																	101593758		2203	4296	6499	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593758C>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1162G>T	5.37:g.101593758C>A	ENSP00000309741:p.Val388Phe						p.V388F	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	7	1448	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	388						Missense_Mutation	SNP	ENST00000310954.6	37	c.1162G>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542265	0.65198	.	.	ENSG00000173930	ENST00000310954	T	0.44083	0.93	5.81	3.09	0.35607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.483231	0.19646	N	0.109328	T	0.46833	0.1413	M	0.84773	2.715	0.31412	N	0.675421	B	0.33299	0.407	B	0.38985	0.287	T	0.50189	-0.8857	10	0.20519	T	0.43	.	8.0407	0.30519	0.0:0.6255:0.0:0.3745	.	388	Q6ZQN7	SO4C1_HUMAN	F	388	ENSP00000309741:V388F	ENSP00000309741:V388F	V	-	1	0	SLCO4C1	101621657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.519000	0.35888	0.827000	0.34685	0.580000	0.79431	GTT		0.313	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		7	49	1	0	8.12818e-05	1	8.99451e-05	7	49				
SLC25A31	83447	broad.mit.edu	37	4	128688327	128688327	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128688327C>T	ENST00000281154.4	+	4	753	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	195					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAGTACAGGGCATCATTGTGT	0.378																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(583-585)ggC>ggT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							196.0	191.0	192.0					4																	128688327		2203	4300	6503	SO:0001819	synonymous_variant	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128688327C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.585C>T	4.37:g.128688327C>T							p.G195G	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			4	753	+			195						Silent	SNP	ENST00000281154.4	37	c.585C>T	CCDS3733.1																																																																																				0.378	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		9	131	0	0	0	1	0	9	131				
NPRL2	10641	broad.mit.edu	37	3	50385824	50385824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50385824G>T	ENST00000232501.3	-	8	1176	c.738C>A	c.(736-738)tgC>tgA	p.C246*	CYB561D2_ENST00000425346.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_Intron|ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	246					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGGGCGTTGGGCAGTATACAT	0.567																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(736-738)tgC>tgA		nitrogen permease regulator-like 2 (S. cerevisiae)							67.0	63.0	64.0					3																	50385824		2203	4300	6503	SO:0001587	stop_gained	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385824G>T	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.738C>A	3.37:g.50385824G>T	ENSP00000232501:p.Cys246*					NPRL2_ENST00000493465.1_Intron	p.C246*	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			8	1176	-			246					A8K831|Q6FGS2|Q9Y249|Q9Y497	Nonsense_Mutation	SNP	ENST00000232501.3	37	c.738C>A	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	38	6.881195	0.97908	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.51	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-6.852	11.8625	0.52474	0.1413:0.0:0.8587:0.0	.	.	.	.	X	246	.	ENSP00000232501:C246X	C	-	3	2	NPRL2	50360828	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.484000	0.66844	0.701000	0.31803	0.561000	0.74099	TGC		0.567	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		4	41	1	0	0.00909568	1	0.00947522	4	41				
CLSTN2	64084	broad.mit.edu	37	3	139894901	139894901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139894901C>T	ENST00000458420.3	+	2	408	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAAGATGCACCGGTTCCTTTT	0.478										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(217-219)cCg>cTg		calsyntenin 2							94.0	93.0	94.0					3																	139894901		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:139894901C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.218C>T	3.37:g.139894901C>T	ENSP00000402460:p.Pro73Leu	HNSCC(16;0.037)					p.P73L	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			2	408	+			73			Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.218C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703082	0.88924	.	.	ENSG00000158258	ENST00000458420	T	0.64260	-0.09	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000011	T	0.82181	0.4981	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85000	0.0899	10	0.87932	D	0	-13.3082	17.1586	0.86798	0.0:1.0:0.0:0.0	.	73	Q9H4D0	CSTN2_HUMAN	L	73	ENSP00000402460:P73L	ENSP00000402460:P73L	P	+	2	0	CLSTN2	141377591	1.000000	0.71417	0.987000	0.45799	0.920000	0.55202	6.887000	0.75616	2.701000	0.92244	0.650000	0.86243	CCG		0.478	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		17	22	0	0	0	1	0	17	22				
DHX8	1659	broad.mit.edu	37	17	41576238	41576238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41576238C>A	ENST00000262415.3	+	10	1381	c.1309C>A	c.(1309-1311)Ctt>Att	p.L437I	DHX8_ENST00000540306.1_Missense_Mutation_p.L437I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	437					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGATGAGGACCTTGAGATTGA	0.388																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1309-1311)Ctt>Att		DEAH (Asp-Glu-Ala-His) box polypeptide 8							69.0	65.0	66.0					17																	41576238		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41576238C>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1309C>A	17.37:g.41576238C>A	ENSP00000262415:p.Leu437Ile					DHX8_ENST00000540306.1_Missense_Mutation_p.L437I	p.L437I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	10	1381	+		Breast(137;0.00908)	437						Missense_Mutation	SNP	ENST00000262415.3	37	c.1309C>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	4.755	0.140476	0.09083	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03035	4.07;4.07	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.02304	0.0071	N	0.05124	-0.11	0.50039	D	0.999845	B;B	0.22909	0.077;0.008	B;B	0.24155	0.051;0.01	T	0.39840	-0.9594	10	0.05525	T	0.97	.	17.3272	0.87252	0.0:1.0:0.0:0.0	.	437;437	F5H658;Q14562	.;DHX8_HUMAN	I	437	ENSP00000437886:L437I;ENSP00000262415:L437I	ENSP00000262415:L437I	L	+	1	0	DHX8	38931764	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	2.974000	0.49272	2.421000	0.82119	0.561000	0.74099	CTT		0.388	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			14	18	1	0	6.31663e-08	1	7.49729e-08	14	18				
NELFE	7936	broad.mit.edu	37	6	31922671	31922671	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31922671T>C	ENST00000375429.3	-	7	631		c.e7-2		MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Splice_Site|NELFE_ENST00000444811.2_Intron	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E						gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GACACAAAGCTGGGGAGATGC	0.542																																						ENST00000375429.3																			0											c.e7-2		negative elongation factor complex member E							57.0	64.0	61.0					6																	31922671		2203	4300	6503	SO:0001630	splice_region_variant	7936							g.chr6:31922671T>C	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.405-2A>G	6.37:g.31922671T>C						NELFE_ENST00000375425.5_Splice_Site|NELFE_ENST00000444811.2_Intron		NM_002904.5	NP_002895.3					7	631	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Splice_Site	SNP	ENST00000375429.3	37		CCDS4730.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256850	0.22965	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000454913;ENST00000426722	.	.	.	4.42	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3956	0.26934	0.0:0.0:0.2225:0.7774	.	.	.	.	.	-1	.	.	.	-	.	.	RDBP	32030650	1.000000	0.71417	0.989000	0.46669	0.449000	0.32228	5.811000	0.69187	1.948000	0.56530	0.459000	0.35465	.		0.542	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4		Intron	5	93	0	0	0	1	0	5	93				
ARHGEF17	9828	broad.mit.edu	37	11	73022390	73022390	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73022390T>G	ENST00000263674.3	+	1	3057	c.2707T>G	c.(2707-2709)Ttt>Gtt	p.F903V	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	903					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACCGAAACTTTCACCTTGA	0.637																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(2707-2709)Ttt>Gtt		Rho guanine nucleotide exchange factor (GEF) 17							47.0	54.0	52.0					11																	73022390		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73022390T>G	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2707T>G	11.37:g.73022390T>G	ENSP00000263674:p.Phe903Val						p.F903V	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	3057	+			903					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.2707T>G	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	t	17.67	3.445919	0.63178	.	.	ENSG00000110237	ENST00000263674	T	0.69435	-0.4	5.09	3.88	0.44766	.	0.319551	0.23993	N	0.042541	T	0.48059	0.1479	L	0.29908	0.895	0.32797	N	0.50038	P	0.39480	0.675	B	0.28553	0.091	T	0.65861	-0.6065	10	0.87932	D	0	-15.7825	10.5846	0.45275	0.0:0.0:0.1614:0.8386	.	903	Q96PE2	ARHGH_HUMAN	V	903	ENSP00000263674:F903V	ENSP00000263674:F903V	F	+	1	0	ARHGEF17	72700038	1.000000	0.71417	0.910000	0.35882	0.619000	0.37552	5.012000	0.64017	1.926000	0.55796	0.454000	0.30748	TTT		0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		3	70	0	0	0	1	0	3	70				
RASAL3	64926	broad.mit.edu	37	19	15575099	15575099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15575099C>T	ENST00000343625.7	-	2	156	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	24					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGTGTGCCAGCGGTAGGAAGT	0.711																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(70-72)cGc>cAc		RAS protein activator like 3							29.0	35.0	33.0					19																	15575099		1983	4172	6155	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15575099C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.71G>A	19.37:g.15575099C>T	ENSP00000341905:p.Arg24His						p.R24H	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			2	151	-			24					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.71G>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873871	0.51695	.	.	ENSG00000105122	ENST00000343625	T	0.34667	1.35	4.17	1.98	0.26296	.	0.000000	0.33309	U	0.005044	T	0.27313	0.0670	M	0.62723	1.935	0.28415	N	0.918022	P	0.47106	0.89	B	0.33568	0.166	T	0.30060	-0.9991	10	0.87932	D	0	.	7.2531	0.26160	0.0:0.7821:0.0:0.2179	.	24	Q86YV0	RASL3_HUMAN	H	24	ENSP00000341905:R24H	ENSP00000341905:R24H	R	-	2	0	RASAL3	15436099	0.999000	0.42202	1.000000	0.80357	0.306000	0.27790	0.574000	0.23714	0.480000	0.27534	0.462000	0.41574	CGC		0.711	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		4	7	0	0	0	1	0	4	7				
RELA	5970	broad.mit.edu	37	11	65429251	65429251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429251G>T	ENST00000406246.3	-	4	503	c.242C>A	c.(241-243)cCt>cAt	p.P81H	RELA_ENST00000525693.1_Missense_Mutation_p.P81H|RELA_ENST00000308639.9_Missense_Mutation_p.P81H	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	81	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CCGGTGAGGAGGGTCCTTGGT	0.592																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(241-243)cCt>cAt		v-rel avian reticuloendotheliosis viral oncogene homolog A							104.0	79.0	87.0					11																	65429251		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65429251G>T	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.242C>A	11.37:g.65429251G>T	ENSP00000384273:p.Pro81His					RELA_ENST00000406246.3_Missense_Mutation_p.P81H|RELA_ENST00000308639.9_Missense_Mutation_p.P81H	p.P81H			Q04206	TF65_HUMAN			4	304	-			81			RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.242C>A	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893852	0.72639	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749;ENST00000532879;ENST00000533187;ENST00000527874	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.59	5.59	0.84812	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.245457	0.41605	D	0.000841	T	0.56411	0.1983	L	0.53561	1.675	0.37357	D	0.911053	D;D;D;D;D;P	0.58970	0.979;0.981;0.981;0.984;0.98;0.906	P;P;P;P;P;P	0.58130	0.685;0.833;0.711;0.809;0.8;0.731	T	0.61969	-0.6953	10	0.59425	D	0.04	-21.7414	17.0755	0.86585	0.0:0.0:1.0:0.0	.	81;68;81;81;92;81	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	H	81;81;81;81;92;92;72;50;81;50;50	ENSP00000384273:P81H;ENSP00000432537:P81H;ENSP00000311508:P81H;ENSP00000433526:P92H;ENSP00000434372:P72H;ENSP00000436545:P50H;ENSP00000431153:P81H;ENSP00000434098:P50H;ENSP00000435531:P50H	ENSP00000311508:P81H	P	-	2	0	RELA	65185827	0.985000	0.35326	1.000000	0.80357	0.996000	0.88848	3.041000	0.49807	2.640000	0.89533	0.650000	0.86243	CCT		0.592	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		9	45	1	0	1.08611e-07	1	1.2824e-07	9	45				
SIPA1L1	26037	broad.mit.edu	37	14	72196994	72196994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72196994A>G	ENST00000555818.1	+	18	5248	c.4900A>G	c.(4900-4902)Acc>Gcc	p.T1634A	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1613A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T1088A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1613A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1634					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTCTTACACCTTAGGAAT	0.567																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4900-4902)Acc>Gcc		signal-induced proliferation-associated 1 like 1							109.0	99.0	102.0					14																	72196994		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72196994A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4900A>G	14.37:g.72196994A>G	ENSP00000450832:p.Thr1634Ala					SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T1088A|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1613A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1613A	p.T1634A	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	18	5248	+			1634					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.4900A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.253944	0.22965	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.47	5.47	0.80525	.	0.061993	0.64402	D	0.000005	T	0.26195	0.0639	N	0.19112	0.55	0.54753	D	0.999983	B;P;B;B;P	0.42757	0.11;0.789;0.024;0.119;0.485	B;P;B;B;B	0.46917	0.033;0.531;0.048;0.019;0.334	T	0.03121	-1.1070	10	0.10377	T	0.69	-25.6819	15.5476	0.76118	1.0:0.0:0.0:0.0	.	1088;1634;1088;1613;1634	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	A	1613;1634;1613;1088	ENSP00000370630:T1613A;ENSP00000450832:T1634A;ENSP00000351352:T1613A;ENSP00000440682:T1088A	ENSP00000351352:T1634A	T	+	1	0	SIPA1L1	71266747	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	6.592000	0.74095	2.071000	0.62044	0.459000	0.35465	ACC		0.567	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		21	51	0	0	0	1	0	21	51				
SELP	6403	broad.mit.edu	37	1	169582345	169582345	+	Missense_Mutation	SNP	C	C	A	rs145985654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169582345C>A	ENST00000263686.6	-	5	634	c.597G>T	c.(595-597)gaG>gaT	p.E199D	SELP_ENST00000367793.2_Missense_Mutation_p.E199D|SELP_ENST00000458599.2_Missense_Mutation_p.E199D|SELP_ENST00000367791.2_Missense_Mutation_p.E199D|SELP_ENST00000367788.2_Missense_Mutation_p.E199D|SELP_ENST00000367792.2_Missense_Mutation_p.E199D|SELP_ENST00000367794.2_Missense_Mutation_p.E199D|SELP_ENST00000367786.2_Missense_Mutation_p.E199D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	199	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GTTCTCCACACTCTCTCACTG	0.443																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(595-597)gaG>gaT		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						75.0	64.0	68.0					1																	169582345		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169582345C>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.597G>T	1.37:g.169582345C>A	ENSP00000263686:p.Glu199Asp					SELP_ENST00000367794.2_Missense_Mutation_p.E199D|SELP_ENST00000367793.2_Missense_Mutation_p.E199D|SELP_ENST00000458599.2_Missense_Mutation_p.E199D|SELP_ENST00000367792.2_Missense_Mutation_p.E199D|SELP_ENST00000367791.2_Missense_Mutation_p.E199D|SELP_ENST00000367788.2_Missense_Mutation_p.E199D|SELP_ENST00000367786.2_Missense_Mutation_p.E199D	p.E199D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			5	634	-	all_hematologic(923;0.208)		199			Sushi 1.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.597G>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.16|14.16	2.452401|2.452401	0.43531|0.43531	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.27256|.	2.2;2.04;1.74;1.68;1.85;2.04;1.74|.	5.98|5.98	0.583|0.583	0.17417|0.17417	Complement control module (2);Sushi/SCR/CCP (1);|.	0.217506|.	0.31734|.	N|.	0.007148|.	T|T	0.31071|0.31071	0.0785|0.0785	M|M	0.68317|0.68317	2.08|2.08	0.30570|0.30570	N|N	0.763581|0.763581	D;D;D|.	0.69078|.	0.995;0.993;0.997|.	D;P;D|.	0.68943|.	0.913;0.867;0.961|.	T|T	0.18493|0.18493	-1.0335|-1.0335	10|5	0.19147|.	T|.	0.46|.	-16.5001|-16.5001	5.0816|5.0816	0.14659|0.14659	0.1655:0.5431:0.0:0.2914|0.1655:0.5431:0.0:0.2914	.|.	199;199;199|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	D|L	199;199;198;199;199;199;199;199;199;199;199;199;184|199	ENSP00000263686:E199D;ENSP00000356767:E199D;ENSP00000356768:E199D;ENSP00000356766:E199D;ENSP00000356765:E199D;ENSP00000356762:E199D;ENSP00000356760:E199D|.	ENSP00000263686:E199D|.	E|V	-|-	3|1	2|0	SELP|SELP	167848969|167848969	0.750000|0.750000	0.28316|0.28316	0.993000|0.993000	0.49108|0.49108	0.076000|0.076000	0.17211|0.17211	-0.106000|-0.106000	0.10890|0.10890	0.316000|0.316000	0.23135|0.23135	-0.136000|-0.136000	0.14681|0.14681	GAG|GTG		0.443	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		21	28	1	0	2.39556e-15	1	3.07139e-15	21	28				
PLD3	23646	broad.mit.edu	37	19	40872796	40872796	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40872796C>T	ENST00000409587.1	+	5	616	c.219C>T	c.(217-219)cgC>cgT	p.R73R	PLD3_ENST00000356508.5_Silent_p.R73R|PLD3_ENST00000409281.1_Silent_p.R73R|PLD3_ENST00000409419.1_Silent_p.R73R|PLD3_ENST00000409735.4_Silent_p.R73R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	73					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCAACCAGCGCCCAGCCCCCT	0.592																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(217-219)cgC>cgT		phospholipase D family, member 3							61.0	59.0	60.0					19																	40872796		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872796C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.219C>T	19.37:g.40872796C>T						PLD3_ENST00000409735.4_Silent_p.R73R|PLD3_ENST00000356508.5_Silent_p.R73R|PLD3_ENST00000409281.1_Silent_p.R73R|PLD3_ENST00000409419.1_Silent_p.R73R	p.R73R			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		5	616	+			73					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.219C>T	CCDS33027.1																																																																																				0.592	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		24	48	0	0	0	1	0	24	48				
ABCG5	64240	broad.mit.edu	37	2	44051213	44051213	+	Missense_Mutation	SNP	G	G	A	rs149418765	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051213G>A	ENST00000260645.1	-	9	1302	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	ABCG5_ENST00000405322.1_Missense_Mutation_p.T217M|ABCG5_ENST00000543989.1_De_novo_Start_InFrame	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	388	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAGGAGACGCGTAATCACTGC	0.458																																						ENST00000543989.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33								ATP-binding cassette, sub-family G (WHITE), member 5			MET/THR	0,4406		0,0,2203	78.0	81.0	80.0		1163	4.7	1.0	2	dbSNP_134	80	4,8596	819.1+/-406.8	0,4,4296	yes	missense	ABCG5	NM_022436.2	81	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	388/652	44051213	4,13002	2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051213G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1163C>T	2.37:g.44051213G>A	ENSP00000260645:p.Thr388Met					ABCG5_ENST00000405322.1_Missense_Mutation_p.T217M|ABCG5_ENST00000260645.1_Missense_Mutation_p.T388M				Q9H222	ABCG5_HUMAN			0	1683	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						Q2T9G2|Q96QZ2|Q96QZ3	Translation_Start_Site	SNP	ENST00000260645.1	37		CCDS1814.1	.	.	.	.	.	.	.	.	.	.	a	9.717	1.158618	0.21454	0.0	4.65E-4	ENSG00000138075	ENST00000260645;ENST00000405322	T;T	0.72394	-0.65;-0.65	5.9	4.74	0.60224	ABC-2 type transporter (1);	0.174572	0.64402	N	0.000010	T	0.35451	0.0932	N	0.00308	-1.67	0.80722	D	1	B;B	0.18610	0.029;0.0	B;B	0.12156	0.007;0.0	T	0.27673	-1.0067	10	0.44086	T	0.13	.	10.4705	0.44633	0.8658:0.0:0.1342:0.0	.	217;388	E7EX35;Q9H222	.;ABCG5_HUMAN	M	388;217	ENSP00000260645:T388M;ENSP00000384513:T217M	ENSP00000260645:T388M	T	-	2	0	ABCG5	43904717	1.000000	0.71417	0.984000	0.44739	0.522000	0.34438	5.882000	0.69714	1.058000	0.40530	-0.264000	0.10439	ACG		0.458	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		15	30	0	0	0	1	0	15	30				
SPRYD3	84926	broad.mit.edu	37	12	53460161	53460161	+	Missense_Mutation	SNP	C	C	A	rs139156601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53460161C>A	ENST00000301463.4	-	10	1217	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E414D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	377	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						cttcctcttcctcctcttcct	0.567											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1129-1131)gaG>gaT		SPRY domain containing 3							240.0	183.0	203.0					12																	53460161		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53460161C>A	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1131G>T	12.37:g.53460161C>A	ENSP00000301463:p.Glu377Asp		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E414D	p.E377D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			10	1217	-			377			Glu-rich.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.1131G>T	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	c	11.55	1.671798	0.29693	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	4.87	1.95	0.26073	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.369952	0.23815	N	0.044295	T	0.16769	0.0403	N	0.02539	-0.55	0.34551	D	0.711371	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	9	0.12430	T	0.62	.	5.1821	0.15165	0.0:0.6402:0.1697:0.1901	.	377	Q8NCJ5	SPRY3_HUMAN	D	377;414	.	ENSP00000301463:E377D	E	-	3	2	SPRYD3	51746428	0.886000	0.30341	1.000000	0.80357	0.988000	0.76386	-0.215000	0.09279	0.186000	0.20125	0.651000	0.88453	GAG		0.567	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		8	52	1	0	0.00307968	1	0.00325696	8	52				
ARHGEF17	9828	broad.mit.edu	37	11	73020858	73020858	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020858G>A	ENST00000263674.3	+	1	1525	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	392					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGCAGCCGTTATTCCAGC	0.627																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1174-1176)cGt>cAt		Rho guanine nucleotide exchange factor (GEF) 17							41.0	39.0	40.0					11																	73020858		2193	4280	6473	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020858G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1175G>A	11.37:g.73020858G>A	ENSP00000263674:p.Arg392His						p.R392H	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1525	+			392					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1175G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889930	0.91889	.	.	ENSG00000110237	ENST00000263674	T	0.72725	-0.68	4.85	4.85	0.62838	.	0.000000	0.41500	D	0.000870	T	0.76162	0.3949	L	0.29908	0.895	0.39612	D	0.969894	D	0.89917	1.0	D	0.68621	0.959	T	0.80710	-0.1261	10	0.87932	D	0	-10.4732	16.5618	0.84568	0.0:0.0:1.0:0.0	.	392	Q96PE2	ARHGH_HUMAN	H	392	ENSP00000263674:R392H	ENSP00000263674:R392H	R	+	2	0	ARHGEF17	72698506	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	7.892000	0.87324	2.244000	0.73946	0.462000	0.41574	CGT		0.627	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		6	52	0	0	0	1	0	6	52				
EFCAB12	90288	broad.mit.edu	37	3	129120571	129120571	+	Silent	SNP	C	C	T	rs368604282	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129120571C>T	ENST00000505956.1	-	9	1746	c.1584G>A	c.(1582-1584)gcG>gcA	p.A528A	RPL32P3_ENST00000514355.1_RNA|EFCAB12_ENST00000326085.3_Silent_p.A528A	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	528							calcium ion binding (GO:0005509)										AACTGAAGAGCGCCAGGCTCC	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19321	0.0		0.001	False		,,,				2504	0.0					ENST00000505956.1																			0											c.(1582-1584)gcG>gcA		EF-hand calcium binding domain 12							116.0	122.0	120.0					3																	129120571		2084	4204	6288	SO:0001819	synonymous_variant	90288							g.chr3:129120571C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1584G>A	3.37:g.129120571C>T						EFCAB12_ENST00000326085.3_Silent_p.A528A	p.A528A	NM_207307.1	NP_997190.1					9	1746	-								Q69YX4	Silent	SNP	ENST00000505956.1	37	c.1584G>A	CCDS54638.1																																																																																				0.587	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		3	3	0	0	0	1	0	3	3				
AMDHD1	144193	broad.mit.edu	37	12	96359553	96359553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96359553C>T	ENST00000266736.2	+	7	1134	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	343					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TATTGCTTTTCAATGGTAATT	0.338																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(1027-1029)tCa>tTa		amidohydrolase domain containing 1							135.0	120.0	125.0					12																	96359553		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96359553C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.1028C>T	12.37:g.96359553C>T	ENSP00000266736:p.Ser343Leu						p.S343L	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			7	1134	+			343					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.1028C>T	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025048	0.75390	.	.	ENSG00000139344	ENST00000266736	T	0.71934	-0.61	5.85	5.85	0.93711	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.111171	0.64402	D	0.000005	D	0.87099	0.6093	M	0.93854	3.465	0.80722	D	1	D	0.55605	0.972	P	0.57679	0.825	D	0.89745	0.3936	10	0.87932	D	0	7.0077	19.7738	0.96383	0.0:1.0:0.0:0.0	.	343	Q96NU7	HUTI_HUMAN	L	343	ENSP00000266736:S343L	ENSP00000266736:S343L	S	+	2	0	AMDHD1	94883684	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	7.113000	0.77095	2.773000	0.95371	0.655000	0.94253	TCA		0.338	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		6	59	0	0	0	1	0	6	59				
CDC14A	8556	broad.mit.edu	37	1	100908489	100908489	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100908489G>T	ENST00000336454.3	+	7	811		c.e7-1		CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000469387.1_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000370125.2_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site|CDC14A_ENST00000544534.1_Splice_Site	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A						cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGCTTTTAGGGATTACAAC	0.289																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.e7-1		cell division cycle 14A							108.0	114.0	112.0					1																	100908489		2203	4298	6501	SO:0001630	splice_region_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100908489G>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.457-1G>T	1.37:g.100908489G>T						CDC14A_ENST00000544534.1_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000469387.1_Splice_Site|CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000336454.3_Splice_Site				Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	7	944	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)						A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Splice_Site	SNP	ENST00000336454.3	37		CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769419	0.69992	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1134	0.81278	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC14A	100681077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.513000	0.81739	2.615000	0.88500	0.585000	0.79938	.		0.289	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	Intron	5	85	1	0	3.59834e-05	1	4.01776e-05	5	85				
ECHDC1	55862	broad.mit.edu	37	6	127611167	127611167	+	Silent	SNP	C	C	T	rs376770425		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127611167C>T	ENST00000531967.1	-	6	1274	c.771G>A	c.(769-771)ccG>ccA	p.P257P	ECHDC1_ENST00000430841.2_Silent_p.P251P|ECHDC1_ENST00000474289.2_Silent_p.P251P|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000454591.2_Silent_p.P176P|ECHDC1_ENST00000309620.9_Silent_p.P234P|ECHDC1_ENST00000454859.3_Silent_p.P251P	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	257						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAATTACTTCCGGTGGCCCTT	0.398																																						ENST00000531967.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(769-771)ccG>ccA		enoyl CoA hydratase domain containing 1		C	,,,,	1,3677		0,1,1838	143.0	136.0	138.0		753,528,,771,	-5.1	0.5	6		138	0,8166		0,0,4083	no	coding-synonymous,coding-synonymous,utr-3,coding-synonymous,utr-3	ECHDC1	NM_001002030.1,NM_001105544.1,NM_001105545.1,NM_001139510.1,NM_018479.3	,,,,	0,1,5921	TT,TC,CC		0.0,0.0272,0.0084	,,,,	251/302,176/227,,257/308,	127611167	1,11843	1839	4083	5922	SO:0001819	synonymous_variant	55862						catalytic activity	g.chr6:127611167C>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.771G>A	6.37:g.127611167C>T						ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Silent_p.P251P|ECHDC1_ENST00000309620.9_Silent_p.P234P|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.P251P|ECHDC1_ENST00000454591.2_Silent_p.P176P|ECHDC1_ENST00000430841.2_Silent_p.P251P|ECHDC1_ENST00000368289.2_3'UTR	p.P257P	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	6	1274	-			257					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Silent	SNP	ENST00000531967.1	37	c.771G>A	CCDS47471.1																																																																																				0.398	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			49	81	0	0	0	1	0	49	81				
IL17RB	55540	broad.mit.edu	37	3	53890892	53890892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53890892T>C	ENST00000288167.3	+	7	560	c.551T>C	c.(550-552)aTc>aCc	p.I184T	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	184					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GATCCGAACATCACTGCTTGT	0.453																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(550-552)aTc>aCc		interleukin 17 receptor B							145.0	142.0	143.0					3																	53890892		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53890892T>C	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.551T>C	3.37:g.53890892T>C	ENSP00000288167:p.Ile184Thr						p.I184T	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	7	560	+			184					Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.551T>C	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909846	0.72983	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.26810	2.38;1.71	5.65	5.65	0.86999	.	0.373488	0.26867	N	0.022089	T	0.28532	0.0706	M	0.71581	2.175	0.35841	D	0.826066	P	0.44877	0.845	B	0.37239	0.244	T	0.46762	-0.9168	10	0.48119	T	0.1	-17.4629	13.3947	0.60843	0.0:0.0:0.0:1.0	.	184	Q9NRM6	I17RB_HUMAN	T	184;168	ENSP00000288167:I184T;ENSP00000418638:I168T	ENSP00000288167:I184T	I	+	2	0	IL17RB	53865932	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.643000	0.61390	2.155000	0.67459	0.533000	0.62120	ATC		0.453	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		4	86	0	0	0	1	0	4	86				
IGSF22	283284	broad.mit.edu	37	11	18735840	18735840	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735840G>T	ENST00000513874.1	-	13	1921	c.1782C>A	c.(1780-1782)gcC>gcA	p.A594A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	594										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGAATACAGAGGCTTCACTTT	0.572																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1780-1782)gcC>gcA		immunoglobulin superfamily, member 22							59.0	61.0	61.0					11																	18735840		2030	4185	6215	SO:0001819	synonymous_variant	283284							g.chr11:18735840G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1782C>A	11.37:g.18735840G>T						RP11-1081L13.4_ENST00000527285.1_RNA	p.A594A	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			13	1921	-			594					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.1782C>A	CCDS41625.2																																																																																				0.572	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		4	38	1	0	0.00909568	1	0.00947522	4	38				
MC2R	4158	broad.mit.edu	37	18	13884765	13884765	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13884765G>A	ENST00000327606.3	-	2	933	c.753C>T	c.(751-753)tgC>tgT	p.C251C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	251			C -> F (in GCCD1). {ECO:0000269|PubMed:8636348}.		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTAGCAGGCGCAGTAGGGGT	0.542																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)tgC>tgT		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						89.0	81.0	83.0					18																	13884765		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884765G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.753C>T	18.37:g.13884765G>A							p.C251C	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	933	-			251		C -> F (in GCCD1).			A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.753C>T	CCDS11869.1																																																																																				0.542	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			18	40	0	0	0	1	0	18	40				
CA13	377677	broad.mit.edu	37	8	86158064	86158064	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86158064A>T	ENST00000321764.3	+	1	309	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	RP11-219B4.5_ENST00000549291.1_5'Flank|CA13_ENST00000517298.1_Intron	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	3					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GACCATGTCGAGGCTCAGCTG	0.662																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(7-9)Agg>Tgg		carbonic anhydrase XIII							137.0	150.0	146.0					8																	86158064		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86158064A>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.7A>T	8.37:g.86158064A>T	ENSP00000318912:p.Arg3Trp					CA13_ENST00000517298.1_Intron	p.R3W	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			1	309	+			3						Missense_Mutation	SNP	ENST00000321764.3	37	c.7A>T	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214919	0.58452	.	.	ENSG00000185015	ENST00000321764	T	0.68331	-0.32	3.92	-4.95	0.03048	Carbonic anhydrase, alpha-class, catalytic domain (1);	0.872518	0.10100	N	0.716127	T	0.41650	0.1168	L	0.40543	1.245	0.25890	N	0.983488	P	0.45428	0.858	B	0.23150	0.044	T	0.36114	-0.9761	10	0.72032	D	0.01	-0.2787	6.2479	0.20830	0.2796:0.5271:0.1933:0.0	.	3	Q8N1Q1	CAH13_HUMAN	W	3	ENSP00000318912:R3W	ENSP00000318912:R3W	R	+	1	2	CA13	86345316	0.804000	0.28969	0.450000	0.26969	0.878000	0.50629	0.252000	0.18278	-1.037000	0.03283	0.383000	0.25322	AGG		0.662	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		51	148	0	0	0	1	0	51	148				
FRMPD3	84443	broad.mit.edu	37	X	106841052	106841052	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106841052G>A	ENST00000276185.4	+	15	2042	c.2042G>A	c.(2041-2043)gGg>gAg	p.G681E				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	681						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCACCACCTGGGAGTgaggag	0.557																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(2041-2043)gGg>gAg		FERM and PDZ domain containing 3							9.0	9.0	9.0					X																	106841052		870	1978	2848	SO:0001583	missense	84443					cytoskeleton		g.chrX:106841052G>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2042G>A	X.37:g.106841052G>A	ENSP00000276185:p.Gly681Glu						p.G681E			Q5JV73	FRPD3_HUMAN			15	2042	+			681					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.2042G>A		.	.	.	.	.	.	.	.	.	.	G	16.03	3.006304	0.54361	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.52526	0.66;0.66	5.06	5.06	0.68205	.	0.079989	0.49305	U	0.000156	T	0.26268	0.0641	N	0.12746	0.255	0.35012	D	0.757015	.	.	.	.	.	.	T	0.27905	-1.0060	8	0.02654	T	1	.	10.136	0.42706	0.0922:0.0:0.9078:0.0	.	.	.	.	E	681;629	ENSP00000276185:G681E;ENSP00000398668:G629E	ENSP00000276185:G681E	G	+	2	0	FRMPD3	106727708	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	3.721000	0.54941	2.349000	0.79799	0.429000	0.28392	GGG		0.557	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		6	3	0	0	0	1	0	6	3				
LAMC2	3918	broad.mit.edu	37	1	183204709	183204709	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183204709G>A	ENST00000264144.4	+	16	2365		c.e16-1		LAMC2_ENST00000493293.1_Splice_Site	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AATCCTTTCAGCCACGTTGAG	0.473											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.e16-1		laminin, gamma 2							85.0	76.0	79.0					1																	183204709		2203	4300	6503	SO:0001630	splice_region_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183204709G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2301-1G>A	1.37:g.183204709G>A			OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1982	LAMC2_ENST00000493293.1_Splice_Site		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			16	2365	+								Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Splice_Site	SNP	ENST00000264144.4	37		CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432742	0.83776	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9111	0.88934	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMC2	181471332	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.639000	0.67868	2.763000	0.94921	0.650000	0.86243	.		0.473	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	Intron	9	26	0	0	0	1	0	9	26				
C2orf16	84226	broad.mit.edu	37	2	27804294	27804294	+	Missense_Mutation	SNP	G	G	A	rs374445724		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27804294G>A	ENST00000408964.2	+	1	4906	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCCCCGAGAGGAGCTG	0.567																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4855-4857)Gag>Aag		chromosome 2 open reading frame 16		G	LYS/GLU	0,3734		0,0,1867	86.0	89.0	88.0		4855	1.5	0.0	2		88	1,8207		0,1,4103	no	missense	C2orf16	NM_032266.3	56	0,1,5970	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	1619/1985	27804294	1,11941	1867	4104	5971	SO:0001583	missense	84226							g.chr2:27804294G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4855G>A	2.37:g.27804294G>A	ENSP00000386190:p.Glu1619Lys						p.E1619K	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	4906	+	Acute lymphoblastic leukemia(172;0.155)		1619			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4855G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698836	0.30142	0.0	1.22E-4	ENSG00000221843	ENST00000408964	T	0.05199	3.48	2.45	1.54	0.23209	.	.	.	.	.	T	0.05273	0.0140	L	0.47716	1.5	0.09310	N	1	P	0.46142	0.873	B	0.35813	0.211	T	0.39742	-0.9599	9	0.21540	T	0.41	.	8.7036	0.34340	0.0:0.3185:0.6815:0.0	.	1619	Q68DN1	CB016_HUMAN	K	1619	ENSP00000386190:E1619K	ENSP00000386190:E1619K	E	+	1	0	C2orf16	27657798	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.007000	0.13174	0.540000	0.28808	0.313000	0.20887	GAG		0.567	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	123	0	0	0	1	0	7	123				
ACADM	34	broad.mit.edu	37	1	76205769	76205769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76205769G>A	ENST00000370841.4	+	7	1010	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACADM_ENST00000370834.5_Nonsense_Mutation_p.W224*|ACADM_ENST00000543667.1_Nonsense_Mutation_p.W2*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.W155*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.W195*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	191					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGAAGATGTGGATAACCAACG	0.333																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						c.(571-573)tgG>tgA		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							106.0	110.0	109.0					1																	76205769		2203	4299	6502	SO:0001587	stop_gained	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76205769G>A	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.573G>A	1.37:g.76205769G>A	ENSP00000359878:p.Trp191*					ACADM_ENST00000370834.5_Nonsense_Mutation_p.W224*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.W195*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.W155*|ACADM_ENST00000543667.1_Nonsense_Mutation_p.W2*	p.W191*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			7	1010	+			191					Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	ENST00000370841.4	37	c.573G>A	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	41	8.708703	0.98922	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	.	.	.	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1666	0.65480	0.0729:0.0:0.9271:0.0	.	.	.	.	X	191;224;155;2;195	.	ENSP00000359871:W224X	W	+	3	0	ACADM	75978357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.641000	0.98458	1.347000	0.45714	0.650000	0.86243	TGG		0.333	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			4	97	0	0	0	1	0	4	97				
PALLD	23022	broad.mit.edu	37	4	169819820	169819820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169819820G>A	ENST00000505667.1	+	14	2600	c.2427G>A	c.(2425-2427)atG>atA	p.M809I	PALLD_ENST00000261509.6_Missense_Mutation_p.M792I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.M305I|PALLD_ENST00000512127.1_Missense_Mutation_p.M410I|PALLD_ENST00000335742.7_Missense_Mutation_p.M634I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1016	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTGAGGGAATGCCAGTAACTT	0.428									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(1900-1902)atG>atA		palladin, cytoskeletal associated protein							122.0	113.0	116.0					4																	169819820		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169819820G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2427G>A	4.37:g.169819820G>A	ENSP00000425556:p.Met809Ile					PALLD_ENST00000261509.6_Missense_Mutation_p.M792I|PALLD_ENST00000507735.1_Missense_Mutation_p.M305I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.M410I|PALLD_ENST00000505667.1_Missense_Mutation_p.M809I	p.M634I			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	14	3259	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1016			Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1902G>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750208	0.30955	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000510998;ENST00000393726;ENST00000507735	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;0.49;1.58;-0.62	5.55	5.55	0.83447	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38492	U	0.001676	T	0.69169	0.3081	L	0.52573	1.65	0.80722	D	1	P;B;P;P	0.34934	0.476;0.31;0.476;0.476	B;B;B;B	0.36378	0.223;0.056;0.1;0.223	T	0.68507	-0.5390	10	0.42905	T	0.14	.	19.4975	0.95079	0.0:0.0:1.0:0.0	.	809;1016;410;792	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	I	792;634;809;410;85;85;305	ENSP00000261509:M792I;ENSP00000336735:M634I;ENSP00000425556:M809I;ENSP00000426947:M410I;ENSP00000422135:M85I;ENSP00000377327:M85I;ENSP00000424016:M305I	ENSP00000261509:M792I	M	+	3	0	PALLD	170056395	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.876000	0.87215	2.607000	0.88179	0.585000	0.79938	ATG		0.428	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		5	58	0	0	0	1	0	5	58				
LDOC1L	84247	broad.mit.edu	37	22	44892750	44892750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892750C>T	ENST00000341255.3	-	2	1196	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	229										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCAGGGCTGGCGCTGGACTAG	0.617																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(685-687)gcG>gcA		leucine zipper, down-regulated in cancer 1-like							56.0	62.0	60.0					22																	44892750		2200	4289	6489	SO:0001819	synonymous_variant	84247							g.chr22:44892750C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.687G>A	22.37:g.44892750C>T							p.A229A	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	1196	-		Ovarian(80;0.024)|all_neural(38;0.0416)	229					Q6ZTR1	Silent	SNP	ENST00000341255.3	37	c.687G>A	CCDS33662.1																																																																																				0.617	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		36	59	0	0	0	1	0	36	59				
RP11-423O2.5	0	broad.mit.edu	37	1	142803498	142803498	+	lincRNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:142803498G>A	ENST00000423385.1	-	0	1467																											ATTTATTATTGATTTAAAATG	0.313																																						ENST00000423385.1																			0																																																			0							g.chr1:142803498G>A																													1.37:g.142803498G>A														0	1467	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.313	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	82	0	0	0	1	0	5	82				
PPFIBP2	8495	broad.mit.edu	37	11	7669752	7669752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7669752C>A	ENST00000299492.4	+	18	2169	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P482H|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P436H|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P451H	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	594	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACAGCCACCCCTCAGGACATG	0.572																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1780-1782)cCt>cAt		PTPRF interacting protein, binding protein 2 (liprin beta 2)							153.0	128.0	136.0					11																	7669752		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7669752C>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1781C>A	11.37:g.7669752C>A	ENSP00000299492:p.Pro594His					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P451H|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P436H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P482H	p.P594H	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	18	2169	+			594			SAM 1.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1781C>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020303	0.75275	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.87	5.87	0.94306	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.78637	2.42	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.995;0.996;1.0;1.0;0.999	T	0.72921	-0.4145	10	0.72032	D	0.01	-14.4022	17.712	0.88324	0.0:1.0:0.0:0.0	.	482;482;517;436;451;594	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	H	594;436;517;482;451	ENSP00000299492:P594H;ENSP00000436498:P436H;ENSP00000435469:P482H;ENSP00000437321:P451H	ENSP00000299492:P594H	P	+	2	0	PPFIBP2	7626328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.916000	0.63362	2.785000	0.95823	0.655000	0.94253	CCT		0.572	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		5	105	1	0	0.000602214	1	0.000649039	5	105				
ASXL3	80816	broad.mit.edu	37	18	31325549	31325549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31325549G>A	ENST00000269197.5	+	12	5737	c.5737G>A	c.(5737-5739)Gtt>Att	p.V1913I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1913					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTATTTCATGTTGACAAGAA	0.527																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5737-5739)Gtt>Att		additional sex combs like 3 (Drosophila)							106.0	109.0	108.0					18																	31325549		1986	4149	6135	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325549G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5737G>A	18.37:g.31325549G>A	ENSP00000269197:p.Val1913Ile						p.V1913I	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5737	+			1913					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5737G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	8.533	0.871361	0.17322	.	.	ENSG00000141431	ENST00000269197	T	0.17370	2.28	5.59	3.53	0.40419	.	.	.	.	.	T	0.12732	0.0309	L	0.27053	0.805	0.09310	N	0.999999	B	0.10296	0.003	B	0.10450	0.005	T	0.24225	-1.0166	9	0.44086	T	0.13	.	9.4538	0.38743	0.2812:0.0:0.7188:0.0	.	1913	Q9C0F0	ASXL3_HUMAN	I	1913	ENSP00000269197:V1913I	ENSP00000269197:V1913I	V	+	1	0	ASXL3	29579547	0.447000	0.25673	0.010000	0.14722	0.808000	0.45660	1.132000	0.31418	0.507000	0.28148	0.655000	0.94253	GTT		0.527	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			30	82	0	0	0	1	0	30	82				
KIAA0020	9933	broad.mit.edu	37	9	2831319	2831319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2831319C>T	ENST00000397885.2	-	6	748	c.542G>A	c.(541-543)cGt>cAt	p.R181H	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	181	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R181P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTGGATCACACGAGTTGAATC	0.338																																						ENST00000397885.2																			1	Substitution - Missense(1)	p.R181P(1)	ovary(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(541-543)cGt>cAt		KIAA0020							108.0	106.0	107.0					9																	2831319		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2831319C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.542G>A	9.37:g.2831319C>T	ENSP00000380982:p.Arg181His						p.R181H	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	6	748	-			181			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.542G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	32	5.141982	0.94560	.	.	ENSG00000080608	ENST00000397885	T	0.23754	1.89	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.969	T	0.71401	-0.4604	10	0.87932	D	0	-8.802	18.8511	0.92230	0.0:1.0:0.0:0.0	.	41;181	B2RDG4;Q15397	.;K0020_HUMAN	H	181	ENSP00000380982:R181H	ENSP00000380982:R181H	R	-	2	0	KIAA0020	2821319	1.000000	0.71417	0.687000	0.30102	0.988000	0.76386	7.037000	0.76531	2.779000	0.95612	0.650000	0.86243	CGT		0.338	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		18	47	0	0	0	1	0	18	47				
GTF2F1	2962	broad.mit.edu	37	19	6389587	6389587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6389587G>T	ENST00000394456.5	-	4	658	c.194C>A	c.(193-195)tCg>tAg	p.S65*	GTF2F1_ENST00000429701.2_Nonsense_Mutation_p.S37*|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	65					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCCCGCGCCCGATTCGGGCAT	0.622																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(193-195)tCg>tAg		general transcription factor IIF, polypeptide 1, 74kDa							132.0	138.0	136.0					19																	6389587		2203	4300	6503	SO:0001587	stop_gained	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389587G>T		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.194C>A	19.37:g.6389587G>T	ENSP00000377969:p.Ser65*					GTF2F1_ENST00000429701.2_Nonsense_Mutation_p.S37*|CTB-180A7.6_ENST00000599584.1_RNA	p.S65*	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			4	658	-			65					B2RCS0|Q9BWN0	Nonsense_Mutation	SNP	ENST00000394456.5	37	c.194C>A	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755423	0.69648	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	.	.	.	5.43	5.43	0.79202	.	0.201702	0.41938	D	0.000796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-21.7746	18.0215	0.89255	0.0:0.0:1.0:0.0	.	.	.	.	X	65;37;125;38;65	.	ENSP00000377969:S65X	S	-	2	0	GTF2F1	6340587	0.999000	0.42202	0.878000	0.34440	0.003000	0.03518	3.861000	0.56002	2.560000	0.86352	0.655000	0.94253	TCG		0.622	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		13	152	1	0	1.37285e-15	1	1.76283e-15	13	152				
MAGEC3	139081	broad.mit.edu	37	X	140984681	140984681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140984681G>A	ENST00000298296.1	+	7	1137	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	MAGEC3_ENST00000443323.2_Start_Codon_SNP_p.M1I|MAGEC3_ENST00000409007.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000544766.1_Missense_Mutation_p.M81I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	379	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGATATGCCTGCTGCTG	0.567																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1135-1137)atG>atA		melanoma antigen family C, 3							69.0	50.0	56.0					X																	140984681		2189	4277	6466	SO:0001583	missense	139081							g.chrX:140984681G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1137G>A	X.37:g.140984681G>A	ENSP00000298296:p.Met379Ile					MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000536088.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000409007.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000443323.2_Start_Codon_SNP_p.M1I	p.M379I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1137	+	Acute lymphoblastic leukemia(192;6.56e-05)		379			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1137G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	3.952	-0.011999	0.07727	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.03181	4.18;4.02;4.04;4.02;4.02	1.1	-2.2	0.06994	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	P;P	0.35139	0.486;0.486	B;B	0.22601	0.04;0.019	T	0.46317	-0.9200	9	0.18276	T	0.48	.	2.3947	0.04386	0.0:0.2733:0.3284:0.3983	.	379;81	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	I	379;81;1;81;81	ENSP00000298296:M379I;ENSP00000441107:M81I;ENSP00000438254:M1I;ENSP00000440444:M81I;ENSP00000386566:M81I	ENSP00000298296:M379I	M	+	3	0	MAGEC3	140812347	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.131000	0.10482	-0.872000	0.04037	0.284000	0.19432	ATG		0.567	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		3	2	0	0	0	1	0	3	2				
FBLN7	129804	broad.mit.edu	37	2	112942829	112942829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942829G>A	ENST00000331203.2	+	7	1131	c.860G>A	c.(859-861)tGc>tAc	p.C287Y	FBLN7_ENST00000409450.3_Missense_Mutation_p.C241Y|FBLN7_ENST00000409667.3_Missense_Mutation_p.C153Y|FBLN7_ENST00000409903.1_Missense_Mutation_p.C287Y	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	287	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGACCACATGCATCAACACC	0.577																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(859-861)tGc>tAc		fibulin 7							163.0	141.0	148.0					2																	112942829		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942829G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.860G>A	2.37:g.112942829G>A	ENSP00000331411:p.Cys287Tyr					FBLN7_ENST00000409450.3_Missense_Mutation_p.C241Y|FBLN7_ENST00000409903.1_Missense_Mutation_p.C287Y|FBLN7_ENST00000409667.3_Missense_Mutation_p.C153Y	p.C287Y	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			7	1131	+			287			EGF-like 3; calcium-binding (Potential).		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.860G>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838176	0.91117	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.76;-5.91;-5.76;-5.91	5.51	5.51	0.81932	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.97032	0.9751	10	0.87932	D	0	-31.2269	19.408	0.94656	0.0:0.0:1.0:0.0	.	153;241;287;287	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	Y	287;287;153;241;181;109	ENSP00000331411:C287Y;ENSP00000386295:C287Y;ENSP00000386822:C153Y;ENSP00000387000:C241Y;ENSP00000388025:C181Y;ENSP00000272559:C109Y	ENSP00000272559:C109Y	C	+	2	0	FBLN7	112659300	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	9.280000	0.95786	2.582000	0.87167	0.655000	0.94253	TGC		0.577	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		7	87	0	0	0	1	0	7	87				
SLC45A2	51151	broad.mit.edu	37	5	33984677	33984677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984677G>A	ENST00000296589.4	-	1	158	c.12C>T	c.(10-12)aaC>aaT	p.N4N	SLC45A2_ENST00000345083.5_Silent_p.N4N|SLC45A2_ENST00000382102.3_Silent_p.N4N|SLC45A2_ENST00000342059.3_Silent_p.N4N|SLC45A2_ENST00000509381.1_Silent_p.N4N	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	4					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCTGCCCACTGTTGCTACCCA	0.572																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(10-12)aaC>aaT		solute carrier family 45, member 2							47.0	49.0	49.0					5																	33984677		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984677G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.12C>T	5.37:g.33984677G>A						SLC45A2_ENST00000342059.3_Silent_p.N4N|SLC45A2_ENST00000345083.5_Silent_p.N4N|SLC45A2_ENST00000296589.4_Silent_p.N4N|SLC45A2_ENST00000509381.1_Silent_p.N4N	p.N4N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			1	69	-			4					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.12C>T	CCDS3901.1																																																																																				0.572	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		20	29	0	0	0	1	0	20	29				
HINFP	25988	broad.mit.edu	37	11	119002275	119002275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119002275C>T	ENST00000350777.2	+	4	505	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HINFP_ENST00000527410.1_Missense_Mutation_p.R148W|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	148					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTTTTATCGGCATGTGGA	0.547																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(442-444)Cgg>Tgg		histone H4 transcription factor							160.0	131.0	141.0					11																	119002275		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119002275C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.442C>T	11.37:g.119002275C>T	ENSP00000318085:p.Arg148Trp					HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.R148W	p.R148W	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			4	505	+			148					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.442C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189689	0.78789	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.10005	2.92;2.99	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.46885	1.475	0.52501	D	0.999951	D	0.89917	1.0	D	0.76071	0.987	T	0.00034	-1.2264	10	0.45353	T	0.12	-30.8413	15.3713	0.74568	0.1394:0.8606:0.0:0.0	.	148	Q9BQA5	HINFP_HUMAN	W	148	ENSP00000318085:R148W;ENSP00000436815:R148W	ENSP00000318085:R148W	R	+	1	2	HINFP	118507485	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.287000	0.51732	2.890000	0.99128	0.650000	0.86243	CGG		0.547	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		33	62	0	0	0	1	0	33	62				
TBC1D26	353149	broad.mit.edu	37	17	15641317	15641317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15641317C>T	ENST00000437605.2	+	6	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	TBC1D26_ENST00000579428.1_Missense_Mutation_p.R69C|AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	69							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ACAGCAAAGACGCAAGGAAAG	0.547																																						ENST00000437605.2																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(205-207)Cgc>Tgc		TBC1 domain family, member 26							130.0	120.0	123.0					17																	15641317		2045	4208	6253	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15641317C>T		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.205C>T	17.37:g.15641317C>T	ENSP00000410111:p.Arg69Cys					ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.R69C|AC005324.6_ENST00000434017.1_RNA	p.R69C	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	6	455	+			69					A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.205C>T	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	t	4.276	0.050342	0.08243	.	.	ENSG00000214946	ENST00000437605	T	0.34072	1.38	1.57	-3.14	0.05250	.	1.119910	0.06829	U	0.793547	T	0.24160	0.0585	L	0.39397	1.21	0.20489	N	0.999897	B;B	0.31485	0.11;0.325	B;B	0.29663	0.032;0.105	T	0.26467	-1.0102	10	0.72032	D	0.01	.	2.656	0.05012	0.2696:0.5269:0.0:0.2035	.	69;69	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	C	69	ENSP00000410111:R69C	ENSP00000410111:R69C	R	+	1	0	TBC1D26	15582042	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.069000	0.11542	-0.777000	0.04572	-0.473000	0.04963	CGC		0.547	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		26	40	0	0	0	1	0	26	40				
BEX1	55859	broad.mit.edu	37	X	102318100	102318100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102318100C>T	ENST00000372728.3	-	3	342	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	35					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)	p.A35T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AAAGGGAGGGCCAAGGGCTCC	0.488																																						ENST00000372728.3																			1	Substitution - Missense(1)	p.A35T(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(103-105)Gcc>Acc		brain expressed, X-linked 1							174.0	163.0	167.0					X																	102318100		2203	4300	6503	SO:0001583	missense	55859				cell differentiation|nervous system development	cytoplasm|nucleus		g.chrX:102318100C>T		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.103G>A	X.37:g.102318100C>T	ENSP00000361813:p.Ala35Thr						p.A35T	NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN			3	342	-			35					A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	c.103G>A	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937637	0.18206	.	.	ENSG00000133169	ENST00000372728	T	0.10005	2.92	2.84	1.98	0.26296	.	0.374106	0.19649	N	0.109263	T	0.12561	0.0305	M	0.75447	2.3	0.09310	N	1	B	0.27166	0.17	B	0.30716	0.119	T	0.18524	-1.0334	10	0.31617	T	0.26	.	5.0991	0.14749	0.0:0.8284:0.0:0.1716	.	35	Q9HBH7	BEX1_HUMAN	T	35	ENSP00000361813:A35T	ENSP00000361813:A35T	A	-	1	0	BEX1	102204756	0.169000	0.23002	0.130000	0.21974	0.659000	0.38960	0.617000	0.24359	0.603000	0.29913	-0.191000	0.12829	GCC		0.488	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		20	240	0	0	0	1	0	20	240				
CFH	3075	broad.mit.edu	37	1	196659244	196659244	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659244G>T	ENST00000359637.2	+	8	1081	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	CFH_ENST00000367429.4_Missense_Mutation_p.R404I|CFH_ENST00000439155.2_Missense_Mutation_p.R404I			P08603	CFAH_HUMAN	complement factor H	404	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R404I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCATGGAAGAAAGTTTGTA	0.353																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.R404I(1)	large_intestine(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1210-1212)aGa>aTa		complement factor H							59.0	59.0	59.0					1																	196659244		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659244G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1019G>T	1.37:g.196659244G>T	ENSP00000352658:p.Arg340Ile					CFH_ENST00000439155.2_Missense_Mutation_p.R404I|CFH_ENST00000359637.2_Missense_Mutation_p.R340I	p.R404I	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			9	1451	+			404			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1211G>T		.	.	.	.	.	.	.	.	.	.	G	14.41	2.528103	0.44969	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64991	-0.13;-0.13;-0.13	4.69	-9.38	0.00623	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.61751	0.2372	L	0.49513	1.565	0.09310	N	1	D;P;P;P	0.65815	0.995;0.945;0.931;0.702	D;P;P;B	0.65233	0.933;0.674;0.655;0.437	T	0.64609	-0.6367	9	0.37606	T	0.19	.	4.9411	0.13965	0.55:0.2385:0.1313:0.0802	.	340;404;404;404	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	I	404;404;404;340	ENSP00000356399:R404I;ENSP00000402656:R404I;ENSP00000352658:R340I	ENSP00000352658:R340I	R	+	2	0	CFH	194925867	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.743000	0.00797	-3.522000	0.00147	-0.136000	0.14681	AGA		0.353	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		6	28	1	0	5.9392e-07	1	6.91975e-07	6	28				
CDRT1	374286	broad.mit.edu	37	17	15510968	15510968	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15510968C>T	ENST00000395906.3	-	6	1151	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	RP11-385D13.1_ENST00000455584.2_Silent_p.Q694Q	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	384										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTTCCTCGTTCTGGTATGCAG	0.473																																						ENST00000455584.2																			0											c.(2080-2082)caG>caA									114.0	105.0	108.0					17																	15510968		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:15510968C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1152G>A	17.37:g.15510968C>T						CDRT1_ENST00000395906.3_Silent_p.Q384Q	p.Q694Q							12	2125	-								O43848|O95611	Silent	SNP	ENST00000395906.3	37	c.2082G>A	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	C	8.389	0.839256	0.16891	.	.	ENSG00000251537	ENST00000455584	.	.	.	4.99	3.94	0.45596	.	.	.	.	.	T	0.57359	0.2048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53885	-0.8375	4	.	.	.	.	8.0041	0.30315	0.1781:0.6495:0.1725:0.0	.	.	.	.	K	709	.	.	R	-	2	0	RP11-385D13.1	15451693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.178000	0.31981	2.490000	0.84030	0.561000	0.74099	AGA		0.473	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		14	14	0	0	0	1	0	14	14				
MRPL14	64928	broad.mit.edu	37	6	44081861	44081861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081861G>A	ENST00000372014.3	-	3	288	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	53					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CGAGGAGCCCGATGGTATGGG	0.552																																						ENST00000372014.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(157-159)Cgg>Tgg		mitochondrial ribosomal protein L14							181.0	180.0	180.0					6																	44081861		2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44081861G>A	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.157C>T	6.37:g.44081861G>A	ENSP00000361084:p.Arg53Trp						p.R53W	NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		3	288	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		53					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.157C>T	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456335	0.63401	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.79	4.9	0.64082	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81662	-0.0831	9	0.87932	D	0	-0.1778	15.8387	0.78824	0.0:0.136:0.864:0.0	.	53	Q6P1L8	RM14_HUMAN	W	53	.	ENSP00000361084:R53W	R	-	1	2	MRPL14	44189839	1.000000	0.71417	0.985000	0.45067	0.104000	0.19210	8.000000	0.88501	1.396000	0.46663	0.561000	0.74099	CGG		0.552	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		21	234	0	0	0	1	0	21	234				
BFSP2	8419	broad.mit.edu	37	3	133118940	133118940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133118940C>T	ENST00000302334.2	+	1	102	c.13C>T	c.(13-15)Cga>Tga	p.R5*		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	5	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGTGAGAGGCGAGTGGTAGT	0.622																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(13-15)Cga>Tga		beaded filament structural protein 2, phakinin							90.0	107.0	101.0					3																	133118940		2203	4300	6503	SO:0001587	stop_gained	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133118940C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.13C>T	3.37:g.133118940C>T	ENSP00000304987:p.Arg5*						p.R5*	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	102	+			5			Head.		Q14D32|Q9HBW5	Nonsense_Mutation	SNP	ENST00000302334.2	37	c.13C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706393	0.68615	.	.	ENSG00000170819	ENST00000302334	.	.	.	5.08	-1.27	0.09347	.	0.285641	0.24222	N	0.040434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6749	1.5213	0.02516	0.1762:0.4254:0.1273:0.2712	.	.	.	.	X	5	.	ENSP00000304987:R5X	R	+	1	2	BFSP2	134601630	0.298000	0.24417	0.094000	0.20943	0.337000	0.28794	0.519000	0.22862	0.044000	0.15775	0.561000	0.74099	CGA		0.622	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			10	98	0	0	0	1	0	10	98				
MECOM	2122	broad.mit.edu	37	3	168834323	168834323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834323G>T	ENST00000464456.1	-	7	1973	c.773C>A	c.(772-774)cCt>cAt	p.P258H	MECOM_ENST00000468789.1_Missense_Mutation_p.P258H|MECOM_ENST00000433243.2_Missense_Mutation_p.P259H|MECOM_ENST00000264674.3_Missense_Mutation_p.P323H|MECOM_ENST00000460814.1_Missense_Mutation_p.P258H|MECOM_ENST00000392736.3_Missense_Mutation_p.P258H|MECOM_ENST00000494292.1_Missense_Mutation_p.P446H|MECOM_ENST00000472280.1_Missense_Mutation_p.P259H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGGGTTCCAGGAAGTGAAAT	0.473																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(772-774)cCt>cAt		MDS1 and EVI1 complex locus							343.0	298.0	313.0					3																	168834323		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834323G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.773C>A	3.37:g.168834323G>T	ENSP00000419770:p.Pro258His					MECOM_ENST00000472280.1_Missense_Mutation_p.P259H|MECOM_ENST00000468789.1_Missense_Mutation_p.P258H|MECOM_ENST00000460814.1_Missense_Mutation_p.P258H|MECOM_ENST00000433243.2_Missense_Mutation_p.P259H|MECOM_ENST00000392736.3_Missense_Mutation_p.P258H|MECOM_ENST00000264674.3_Missense_Mutation_p.P323H|MECOM_ENST00000494292.1_Missense_Mutation_p.P446H	p.P258H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	1973	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.773C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469223	0.63625	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06371	3.37;3.37;3.33;3.46;3.33;3.37;3.31;3.46	5.88	5.88	0.94601	.	0.135065	0.50627	D	0.000105	T	0.20373	0.0490	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.998	T	0.00080	-1.2108	10	0.54805	T	0.06	-11.457	20.2441	0.98394	0.0:0.0:1.0:0.0	.	446;259;446;323;258	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	H	323;258;258;259;446;258;258;259	ENSP00000264674:P323H;ENSP00000376493:P258H;ENSP00000419770:P258H;ENSP00000420048:P259H;ENSP00000417899:P446H;ENSP00000419995:P258H;ENSP00000420466:P258H;ENSP00000394302:P259H	ENSP00000264674:P323H	P	-	2	0	MECOM	170317017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.634000	0.83273	2.774000	0.95407	0.655000	0.94253	CCT		0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		12	87	1	0	3.03607e-14	1	3.87122e-14	12	87				
HAVCR1	26762	broad.mit.edu	37	5	156479468	156479468	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156479468T>G	ENST00000339252.3	-	3	1109	c.577A>C	c.(577-579)Aca>Cca	p.T193P	HAVCR1_ENST00000523175.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T193P	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCTCGTTGTCGTTGGAACG	0.468																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(577-579)Aca>Cca		hepatitis A virus cellular receptor 1							501.0	489.0	493.0					5																	156479468		2100	4227	6327	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479468T>G	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.577A>C	5.37:g.156479468T>G	ENSP00000344844:p.Thr193Pro					HAVCR1_ENST00000425854.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T193P	p.T193P	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1109	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	188			11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.577A>C	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	T	7.080	0.570036	0.13560	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.16457	2.34;2.38;2.38;2.34;2.38;2.38	1.31	-1.85	0.07784	.	.	.	.	.	T	0.06371	0.0164	N	0.14661	0.345	0.09310	N	1	D;P;P	0.54964	0.969;0.898;0.898	B;B;B	0.38194	0.267;0.127;0.127	T	0.25257	-1.0137	9	0.30854	T	0.27	.	2.0914	0.03658	0.5018:0.2084:0.0:0.2898	.	193;188;188	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	P	193	ENSP00000428524:T193P;ENSP00000427898:T193P;ENSP00000344844:T193P;ENSP00000403333:T193P;ENSP00000440258:T193P;ENSP00000428422:T193P	ENSP00000344844:T193P	T	-	1	0	HAVCR1	156412046	0.037000	0.19845	0.000000	0.03702	0.003000	0.03518	0.700000	0.25601	-0.334000	0.08463	0.172000	0.16884	ACA		0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			24	352	0	0	0	1	0	24	352				
KDM5C	8242	broad.mit.edu	37	X	53239948	53239948	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53239948T>A	ENST00000375401.3	-	11	2025	c.1493A>T	c.(1492-1494)aAg>aTg	p.K498M	KDM5C_ENST00000404049.3_Missense_Mutation_p.K497M|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Missense_Mutation_p.K498M|KDM5C_ENST00000375383.3_Missense_Mutation_p.K457M|KDM5C_ENST00000452825.3_Missense_Mutation_p.K431M|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	498	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.K498R(2)|p.K431R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAGGGCACCTTCATGCCAGA	0.507			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		3	Substitution - Missense(3)	p.K498R(2)|p.K431R(1)	endometrium(3)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1291-1293)aAg>aTg		lysine (K)-specific demethylase 5C							172.0	115.0	134.0					X																	53239948		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53239948T>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1493A>T	X.37:g.53239948T>A	ENSP00000364550:p.Lys498Met					KDM5C_ENST00000404049.3_Missense_Mutation_p.K497M|KDM5C_ENST00000375379.3_Missense_Mutation_p.K498M|KDM5C_ENST00000375383.3_Missense_Mutation_p.K457M|KDM5C_ENST00000375401.3_Missense_Mutation_p.K498M	p.K431M	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			9	1824	-			498					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1292A>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936844	0.73557	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.42	5.42	0.78866	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	L	0.33624	1.015	0.51482	D	0.99992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.78879	-0.2030	10	0.87932	D	0	-27.9179	12.2755	0.54733	0.0:0.0:0.0:1.0	.	431;497;498	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	M	431;498;497;498;457	ENSP00000445176:K431M;ENSP00000364550:K498M;ENSP00000385394:K497M;ENSP00000364528:K498M;ENSP00000364532:K457M	ENSP00000364528:K498M	K	-	2	0	KDM5C	53256673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.005000	0.88553	1.803000	0.52742	0.486000	0.48141	AAG		0.507	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		7	39	0	0	0	1	0	7	39				
OR4D11	219986	broad.mit.edu	37	11	59271671	59271671	+	Missense_Mutation	SNP	C	C	T	rs377391356		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59271671C>T	ENST00000313253.1	+	1	623	c.623C>T	c.(622-624)aCc>aTc	p.T208I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGGTCACTACCCTGTGGTTT	0.512																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(622-624)aCc>aTc		olfactory receptor, family 4, subfamily D, member 11		C	ILE/THR	0,4402		0,0,2201	209.0	201.0	204.0		623	4.5	0.1	11		204	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR4D11	NM_001004706.1	89	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	208/312	59271671	1,12991	2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271671C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.623C>T	11.37:g.59271671C>T	ENSP00000320077:p.Thr208Ile						p.T208I	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	623	+			208						Missense_Mutation	SNP	ENST00000313253.1	37	c.623C>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	c	7.927	0.739916	0.15642	0.0	1.16E-4	ENSG00000176200	ENST00000313253	T	0.34472	1.36	5.44	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.554101	0.16363	N	0.217684	T	0.30916	0.0780	N	0.11870	0.19	0.09310	N	1	P	0.34462	0.454	P	0.48982	0.597	T	0.30297	-0.9983	10	0.32370	T	0.25	-24.9041	6.927	0.24419	0.173:0.7385:0.0:0.0886	.	208	Q8NGI4	OR4DB_HUMAN	I	208	ENSP00000320077:T208I	ENSP00000320077:T208I	T	+	2	0	OR4D11	59028247	0.000000	0.05858	0.085000	0.20634	0.121000	0.20230	-0.227000	0.09126	1.290000	0.44636	0.557000	0.71058	ACC		0.512	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		45	86	0	0	0	1	0	45	86				
LRRC34	151827	broad.mit.edu	37	3	169525279	169525279	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169525279C>A	ENST00000316515.7	-	4	617		c.e4-1		LRRC34_ENST00000522526.2_Splice_Site|LRRC34_ENST00000446859.1_Splice_Site|LRRC34_ENST00000522830.1_Splice_Site|LRRC34_ENST00000524327.1_Splice_Site	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACATCCAAACCTGAAGCACAG	0.333																																						ENST00000522526.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10						c.e4-1		leucine rich repeat containing 34							103.0	100.0	101.0					3																	169525279		2203	4300	6503	SO:0001630	splice_region_variant	151827							g.chr3:169525279C>A	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.341-1G>T	3.37:g.169525279C>A						LRRC34_ENST00000316515.7_Splice_Site|LRRC34_ENST00000446859.1_Splice_Site|LRRC34_ENST00000522830.1_Splice_Site|LRRC34_ENST00000524327.1_Splice_Site				Q8IZ02	LRC34_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		4	817	-	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)							B4DEJ7|E9PBH2|G5E9T7	Splice_Site	SNP	ENST00000316515.7	37			.	.	.	.	.	.	.	.	.	.	C	12.51	1.959737	0.34565	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1439	0.86761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC34	171007973	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	5.134000	0.64770	2.576000	0.86940	0.655000	0.94253	.		0.333	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353	Intron	27	50	1	0	1.77063e-15	1	2.27219e-15	27	50				
LTBP3	4054	broad.mit.edu	37	11	65320346	65320346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65320346G>A	ENST00000301873.5	-	6	1439	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	LTBP3_ENST00000322147.4_Missense_Mutation_p.R391C|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	391	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACTGTGTACGGGAGGGGCCT	0.602																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1171-1173)Cgt>Tgt		latent transforming growth factor beta binding protein 3							125.0	93.0	104.0					11																	65320346		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65320346G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1171C>T	11.37:g.65320346G>A	ENSP00000301873:p.Arg391Cys					LTBP3_ENST00000322147.4_Missense_Mutation_p.R391C|LTBP3_ENST00000536982.1_Intron	p.R391C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			6	1439	-			391			EGF-like 2; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1171C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460781	0.43736	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530866	D;D;D	0.87571	-1.6;-1.6;-2.27	4.65	4.65	0.58169	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.131569	0.48767	D	0.000161	D	0.91586	0.7342	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.71674	0.995;0.995;0.997;0.998	P;P;P;P	0.59171	0.751;0.853;0.832;0.787	D	0.91211	0.4999	10	0.37606	T	0.19	.	14.9996	0.71462	0.0:0.0:1.0:0.0	.	302;274;391;391	E9PKW1;B9EG76;Q9NS15;Q9NS15-2	.;.;LTBP3_HUMAN;.	C	391;391;302	ENSP00000326647:R391C;ENSP00000301873:R391C;ENSP00000435276:R302C	ENSP00000301873:R391C	R	-	1	0	LTBP3	65076922	0.997000	0.39634	1.000000	0.80357	0.541000	0.35023	3.395000	0.52558	2.119000	0.64992	0.407000	0.27541	CGT		0.602	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	47	0	0	0	1	0	4	47				
NANOS2	339345	broad.mit.edu	37	19	46417729	46417729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417729C>T	ENST00000341294.2	-	1	307	c.223G>A	c.(223-225)Gtc>Atc	p.V75I		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	75					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GAGGAGTAGACGTGGCGGGAC	0.687																																						ENST00000341294.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(223-225)Gtc>Atc		nanos homolog 2 (Drosophila)							69.0	63.0	65.0					19																	46417729		2203	4300	6503	SO:0001583	missense	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417729C>T	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.223G>A	19.37:g.46417729C>T	ENSP00000341021:p.Val75Ile						p.V75I	NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	307	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	75					Q17R30|Q4G0P8	Missense_Mutation	SNP	ENST00000341294.2	37	c.223G>A	CCDS33056.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619719	0.28801	.	.	ENSG00000188425	ENST00000341294	T	0.46063	0.88	4.65	3.6	0.41247	Zinc finger, nanos-type (2);	0.000000	0.64402	D	0.000019	T	0.19366	0.0465	N	0.03881	-0.34	0.39431	D	0.967083	D	0.58268	0.982	P	0.47915	0.561	T	0.12016	-1.0564	10	0.07644	T	0.81	-3.3282	6.2803	0.21003	0.0:0.7114:0.19:0.0986	.	75	P60321	NANO2_HUMAN	I	75	ENSP00000341021:V75I	ENSP00000341021:V75I	V	-	1	0	NANOS2	51109569	0.986000	0.35501	0.544000	0.28141	0.958000	0.62258	2.664000	0.46783	1.168000	0.42723	0.491000	0.48974	GTC		0.687	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			7	19	0	0	0	1	0	7	19				
SYTL2	54843	broad.mit.edu	37	11	85415995	85415995	+	Missense_Mutation	SNP	T	T	G	rs377109375		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85415995T>G	ENST00000528231.1	-	14	2457	c.2180A>C	c.(2179-2181)aAt>aCt	p.N727T	SYTL2_ENST00000525423.1_Missense_Mutation_p.N1049T|SYTL2_ENST00000389960.4_Missense_Mutation_p.N703T|SYTL2_ENST00000354566.3_Missense_Mutation_p.N1065T|SYTL2_ENST00000533892.1_Missense_Mutation_p.N129T|SYTL2_ENST00000525702.1_Missense_Mutation_p.N169T|SYTL2_ENST00000524452.1_Missense_Mutation_p.N703T|SYTL2_ENST00000389958.3_Missense_Mutation_p.N158T|SYTL2_ENST00000529581.1_Missense_Mutation_p.N169T|SYTL2_ENST00000316356.4_Missense_Mutation_p.N728T|SYTL2_ENST00000527523.1_Missense_Mutation_p.N695T|SYTL2_ENST00000359152.5_Missense_Mutation_p.N1573T	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	727	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAGGAAACTATTGCGCTTAAA	0.373																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(4717-4719)aAt>aCt		synaptotagmin-like 2							177.0	164.0	169.0					11																	85415995		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85415995T>G	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2180A>C	11.37:g.85415995T>G	ENSP00000431701:p.Asn727Thr					SYTL2_ENST00000389958.3_Missense_Mutation_p.N158T|SYTL2_ENST00000316356.4_Missense_Mutation_p.N728T|SYTL2_ENST00000527523.1_Missense_Mutation_p.N695T|SYTL2_ENST00000389960.4_Missense_Mutation_p.N703T|SYTL2_ENST00000524452.1_Missense_Mutation_p.N703T|SYTL2_ENST00000529581.1_Missense_Mutation_p.N169T|SYTL2_ENST00000533892.1_Missense_Mutation_p.N129T|SYTL2_ENST00000528231.1_Missense_Mutation_p.N727T|SYTL2_ENST00000354566.3_Missense_Mutation_p.N1065T|SYTL2_ENST00000525423.1_Missense_Mutation_p.N1049T|SYTL2_ENST00000525702.1_Missense_Mutation_p.N169T	p.N1573T	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	8	4717	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	727					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.4718A>C	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378404	0.82682	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452;ENST00000533057;ENST00000527794	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.48	5.48	0.80851	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.999;0.994;0.998;0.998;0.995;0.998;0.99;0.975	T	0.50625	-0.8806	9	.	.	.	-19.0834	15.5577	0.76213	0.0:0.0:0.0:1.0	.	695;703;727;728;545;1025;1049;1065;158;129	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	T	703;1573;1065;728;169;1049;169;158;444;727;129;695;703;93;129	ENSP00000374610:N703T;ENSP00000352065:N1573T;ENSP00000346576:N1065T;ENSP00000318803:N728T;ENSP00000432996:N169T;ENSP00000432694:N1049T;ENSP00000435855:N169T;ENSP00000374608:N158T;ENSP00000435009:N444T;ENSP00000431701:N727T;ENSP00000432144:N129T;ENSP00000434010:N695T;ENSP00000435238:N703T;ENSP00000436164:N93T;ENSP00000437005:N129T	.	N	-	2	0	SYTL2	85093643	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.586000	0.82596	2.072000	0.62099	0.477000	0.44152	AAT		0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		10	128	0	0	0	1	0	10	128				
RAP1GAP	5909	broad.mit.edu	37	1	21938056	21938056	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21938056G>A	ENST00000374765.4	-	13	932	c.732C>T	c.(730-732)gaC>gaT	p.D244D	RAP1GAP_ENST00000542643.2_Silent_p.D244D|RAP1GAP_ENST00000290101.4_Silent_p.D308D|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000374763.2_Silent_p.D244D|RAP1GAP_ENST00000374761.2_Silent_p.D275D	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	244	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGTGGGTCACGTCCAGGCCTC	0.662																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(730-732)gaC>gaT		RAP1 GTPase activating protein							95.0	86.0	89.0					1																	21938056		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21938056G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.732C>T	1.37:g.21938056G>A						RAP1GAP_ENST00000374763.2_Silent_p.D244D|RAP1GAP_ENST00000374765.4_Silent_p.D244D|RAP1GAP_ENST00000290101.4_Silent_p.D308D|RAP1GAP_ENST00000374761.2_Silent_p.D275D	p.D244D	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	14	1034	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	244			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.732C>T	CCDS218.1																																																																																				0.662	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		22	38	0	0	0	1	0	22	38				
DNAH5	1767	broad.mit.edu	37	5	13864621	13864621	+	Missense_Mutation	SNP	C	C	T	rs372291214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13864621C>T	ENST00000265104.4	-	28	4585	c.4481G>A	c.(4480-4482)cGg>cAg	p.R1494Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1494	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCCAGTGCCGCTCCATCAT	0.478									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4480-4482)cGg>cAg		dynein, axonemal, heavy chain 5		C	GLN/ARG	0,4406		0,0,2203	62.0	61.0	61.0		4481	5.3	0.9	5		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH5	NM_001369.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1494/4625	13864621	1,13005	2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13864621C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4481G>A	5.37:g.13864621C>T	ENSP00000265104:p.Arg1494Gln					CTB-51A17.1_ENST00000503244.1_RNA	p.R1494Q	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			28	4585	-	Lung NSC(4;0.00476)		1494			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4481G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479702	0.84747	0.0	1.16E-4	ENSG00000039139	ENST00000265104	T	0.66099	-0.19	5.32	5.32	0.75619	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	H	0.97540	4.025	0.48975	D	0.999739	D	0.89917	1.0	D	0.97110	1.0	D	0.91818	0.5465	10	0.87932	D	0	.	19.0581	0.93074	0.0:1.0:0.0:0.0	.	1494	Q8TE73	DYH5_HUMAN	Q	1494	ENSP00000265104:R1494Q	ENSP00000265104:R1494Q	R	-	2	0	DNAH5	13917621	0.981000	0.34729	0.929000	0.37066	0.559000	0.35586	5.974000	0.70465	2.488000	0.83962	0.632000	0.83419	CGG		0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		16	29	0	0	0	1	0	16	29				
DENND1A	57706	broad.mit.edu	37	9	126520032	126520032	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126520032G>A	ENST00000373624.2	-	5	453	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DENND1A_ENST00000373620.3_Silent_p.F84F|DENND1A_ENST00000373618.1_Silent_p.F52F|DENND1A_ENST00000394215.2_Silent_p.F54F|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.F52F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	84	UDENN.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCAGAACCCGAATCTCTGTT	0.493																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(250-252)ttC>ttT		DENN/MADD domain containing 1A							92.0	82.0	85.0					9																	126520032		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126520032G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.252C>T	9.37:g.126520032G>A						DENND1A_ENST00000373618.1_Silent_p.F52F|DENND1A_ENST00000373620.3_Silent_p.F84F|DENND1A_ENST00000394215.2_Silent_p.F54F|DENND1A_ENST00000394219.3_Silent_p.F52F|DENND1A_ENST00000473039.1_5'UTR	p.F84F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			5	453	-			84			UDENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.252C>T	CCDS35133.1																																																																																				0.493	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		24	23	0	0	0	1	0	24	23				
UBA7	7318	broad.mit.edu	37	3	49847823	49847823	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847823G>A	ENST00000333486.3	-	13	1664	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	502	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGTTCAGGCCCCGGGCAG	0.587																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1504-1506)ggC>ggT		ubiquitin-like modifier activating enzyme 7							81.0	86.0	84.0					3																	49847823		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847823G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1506C>T	3.37:g.49847823G>A							p.G502G	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	13	1664	-			502			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1506C>T	CCDS2805.1																																																																																				0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		28	66	0	0	0	1	0	28	66				
CYLC2	1539	broad.mit.edu	37	9	105765513	105765513	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:105765513A>G	ENST00000374798.3	+	3	218	c.148A>G	c.(148-150)Aaa>Gaa	p.K50E	CYLC2_ENST00000487798.1_Missense_Mutation_p.K50E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	50	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGGAGATCAAAACCTTCTCA	0.333																																						ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(148-150)Aaa>Gaa		cylicin, basic protein of sperm head cytoskeleton 2							109.0	100.0	103.0					9																	105765513		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105765513A>G	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.148A>G	9.37:g.105765513A>G	ENSP00000420256:p.Lys50Glu					CYLC2_ENST00000487798.1_Missense_Mutation_p.K50E	p.K50E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			3	218	+		all_hematologic(171;0.125)	50			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.148A>G	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	9.856	1.194884	0.22037	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15139	2.45;2.45	4.72	-0.818	0.10833	.	1.188780	0.06325	N	0.705135	T	0.22936	0.0554	L	0.54323	1.7	0.09310	N	1	D	0.57899	0.981	P	0.50270	0.636	T	0.30060	-0.9991	10	0.38643	T	0.18	-0.7372	6.9906	0.24753	0.3657:0.4866:0.0:0.1477	.	50	Q14093	CYLC2_HUMAN	E	50	ENSP00000420256:K50E;ENSP00000417674:K50E	ENSP00000420256:K50E	K	+	1	0	CYLC2	104805334	0.690000	0.27699	0.128000	0.21923	0.112000	0.19704	0.967000	0.29344	-0.205000	0.10219	-0.468000	0.05107	AAA		0.333	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		3	80	0	0	0	1	0	3	80				
SLC25A3	5250	broad.mit.edu	37	12	98989291	98989291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98989291C>T	ENST00000228318.3	+	3	358	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	SLC25A3_ENST00000401722.3_Intron|SLC25A3_ENST00000547534.1_Intron|SLC25A3_ENST00000549338.1_Intron|SLC25A3_ENST00000552981.1_Intron|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000188376.5_Intron|SLC25A3_ENST00000551917.1_Missense_Mutation_p.H80Y	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	80					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TGGCACAACACATACAGCATT	0.393																																						ENST00000228318.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(238-240)Cat>Tat		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							203.0	183.0	190.0					12																	98989291		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98989291C>T		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.238C>T	12.37:g.98989291C>T	ENSP00000228318:p.His80Tyr					SLC25A3_ENST00000547534.1_Intron|SLC25A3_ENST00000549338.1_Intron|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000401722.3_Intron|SLC25A3_ENST00000551917.1_Missense_Mutation_p.H80Y|SLC25A3_ENST00000188376.5_Intron|SLC25A3_ENST00000552981.1_Intron	p.H80Y	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	3	358	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	80					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.238C>T	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979329	0.92982	.	.	ENSG00000075415	ENST00000228318;ENST00000551917;ENST00000548046;ENST00000550695	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.27	5.27	0.74061	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93902	0.7189	10	0.87932	D	0	-21.7022	18.8848	0.92372	0.0:1.0:0.0:0.0	.	80	Q00325	MPCP_HUMAN	Y	80	ENSP00000228318:H80Y;ENSP00000447310:H80Y;ENSP00000447339:H80Y;ENSP00000449479:H80Y	ENSP00000228318:H80Y	H	+	1	0	SLC25A3	97513422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.467000	0.83353	0.655000	0.94253	CAT		0.393	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		44	81	0	0	0	1	0	44	81				
KRTAP9-4	85280	broad.mit.edu	37	17	39406017	39406017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406017G>A	ENST00000334109.2	+	1	79	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	15	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CATGCTGCAGGACCACCTGCT	0.602																																						ENST00000334109.2																			0				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(43-45)agG>agA		keratin associated protein 9-4							135.0	113.0	121.0					17																	39406017		2203	4298	6501	SO:0001819	synonymous_variant	85280					keratin filament		g.chr17:39406017G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.45G>A	17.37:g.39406017G>A							p.R15R	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	79	+		Breast(137;0.000496)	15			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Silent	SNP	ENST00000334109.2	37	c.45G>A	CCDS11386.1																																																																																				0.602	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			21	45	0	0	0	1	0	21	45				
OR11H12	440153	broad.mit.edu	37	14	19377766	19377766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19377766G>A	ENST00000550708.1	+	1	245	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGGGAATGGAGCCATTGCT	0.408																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(172-174)gGa>gAa		olfactory receptor, family 11, subfamily H, member 12							69.0	77.0	74.0					14																	19377766		2091	4194	6285	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377766G>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.173G>A	14.37:g.19377766G>A	ENSP00000449002:p.Gly58Glu						p.G58E	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	245	+	all_cancers(95;0.00108)		58						Missense_Mutation	SNP	ENST00000550708.1	37	c.173G>A	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	8.686	0.906217	0.17760	.	.	ENSG00000257115	ENST00000550708	T	0.00441	7.41	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000867	T	0.00666	0.0022	M	0.91818	3.245	0.25808	N	0.984422	P	0.49696	0.927	P	0.49999	0.628	T	0.38001	-0.9681	9	0.33141	T	0.24	.	3.7193	0.08450	0.0:1.0E-4:0.5702:0.4297	.	58	B2RN74	O11HC_HUMAN	E	58	ENSP00000449002:G58E	ENSP00000449002:G58E	G	+	2	0	CR383656.1	18447766	0.000000	0.05858	0.676000	0.29932	0.026000	0.11368	0.048000	0.14078	0.619000	0.30197	0.064000	0.15345	GGA		0.408	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		64	78	0	0	0	1	0	64	78				
C11orf70	85016	broad.mit.edu	37	11	101929663	101929663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101929663C>T	ENST00000434758.2	+	3	273	c.245C>T	c.(244-246)tCt>tTt	p.S82F	snoU13_ENST00000516870.1_RNA|snoU13_ENST00000459415.1_RNA|C11orf70_ENST00000534360.1_Missense_Mutation_p.S82F|C11orf70_ENST00000526781.1_Missense_Mutation_p.S82F	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	82										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTTTCAGATTCTTCTGGACAA	0.249																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(244-246)tCt>tTt		chromosome 11 open reading frame 70							29.0	32.0	31.0					11																	101929663		2172	4240	6412	SO:0001583	missense	85016							g.chr11:101929663C>T	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.245C>T	11.37:g.101929663C>T	ENSP00000414390:p.Ser82Phe					C11orf70_ENST00000526781.1_Missense_Mutation_p.S82F|C11orf70_ENST00000534360.1_Missense_Mutation_p.S82F	p.S82F	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	3	273	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	82					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.245C>T	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604090	0.46423	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000534360;ENST00000423732	.	.	.	5.24	4.31	0.51392	.	0.231520	0.36409	N	0.002602	T	0.53753	0.1816	M	0.68952	2.095	0.34845	D	0.741062	B;B	0.32382	0.023;0.368	B;B	0.32677	0.023;0.15	T	0.64084	-0.6490	8	.	.	.	-20.5676	11.9364	0.52876	0.0:0.9117:0.0:0.0883	.	82;82	Q9BRQ4;E9PJU1	CK070_HUMAN;.	F	82;82;82;44	.	.	S	+	2	0	C11orf70	101434873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.073000	0.41519	2.594000	0.87642	0.655000	0.94253	TCT		0.249	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		15	26	0	0	0	1	0	15	26				
GP5	2814	broad.mit.edu	37	3	194117456	194117456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194117456C>T	ENST00000401815.1	-	1	1627	c.1556G>A	c.(1555-1557)aGt>aAt	p.S519N	GP5_ENST00000323007.3_Missense_Mutation_p.S519N			P40197	GPV_HUMAN	glycoprotein V (platelet)	519					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)		CCAGAACGGACTATGATCTTG	0.522																																						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.(1555-1557)aGt>aAt		glycoprotein V (platelet)							103.0	119.0	114.0					3																	194117456		2203	4300	6503	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117456C>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.1556G>A	3.37:g.194117456C>T	ENSP00000383931:p.Ser519Asn					GP5_ENST00000323007.3_Missense_Mutation_p.S519N	p.S519N			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	1627	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	519					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1556G>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	1.841	-0.467316	0.04476	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.42900	0.96;0.96	3.37	-0.652	0.11450	.	1.231350	0.05742	N	0.601636	T	0.22859	0.0552	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	10	0.23302	T	0.38	.	4.3904	0.11337	0.0:0.4191:0.3604:0.2206	.	519	P40197	GPV_HUMAN	N	519	ENSP00000383931:S519N;ENSP00000319286:S519N	ENSP00000319286:S519N	S	-	2	0	GP5	195598745	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.025000	0.13577	-0.151000	0.11176	-1.172000	0.01736	AGT		0.522	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		12	173	0	0	0	1	0	12	173				
DST	667	broad.mit.edu	37	6	56501401	56501401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56501401C>T	ENST00000361203.3	-	19	2388	c.2381G>A	c.(2380-2382)tGc>tAc	p.C794Y	DST_ENST00000244364.6_Missense_Mutation_p.C468Y|DST_ENST00000518935.1_Missense_Mutation_p.C468Y|DST_ENST00000370769.4_Missense_Mutation_p.C794Y|DST_ENST00000446842.2_Missense_Mutation_p.C468Y|DST_ENST00000421834.2_Missense_Mutation_p.C794Y|DST_ENST00000370788.2_Missense_Mutation_p.C794Y|DST_ENST00000370765.6_Missense_Mutation_p.C468Y|DST_ENST00000370754.5_Missense_Mutation_p.C972Y|DST_ENST00000312431.6_Missense_Mutation_p.C794Y			Q03001	DYST_HUMAN	dystonin	794					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACACTGGCAGAGCTGTAA	0.443																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2914-2916)tGc>tAc		dystonin							193.0	159.0	171.0					6																	56501401		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56501401C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2381G>A	6.37:g.56501401C>T	ENSP00000354508:p.Cys794Tyr					DST_ENST00000518935.1_Missense_Mutation_p.C468Y|DST_ENST00000312431.6_Missense_Mutation_p.C794Y|DST_ENST00000370769.4_Missense_Mutation_p.C794Y|DST_ENST00000421834.2_Missense_Mutation_p.C794Y|DST_ENST00000370788.2_Missense_Mutation_p.C794Y|DST_ENST00000244364.6_Missense_Mutation_p.C468Y|DST_ENST00000361203.3_Missense_Mutation_p.C794Y|DST_ENST00000446842.2_Missense_Mutation_p.C468Y|DST_ENST00000370765.6_Missense_Mutation_p.C468Y	p.C972Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		22	2914	-	Lung NSC(77;0.103)		794					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2915G>A		.	.	.	.	.	.	.	.	.	.	C	27.9	4.873406	0.91664	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000056	D	0.98261	0.9424	M	0.85197	2.74	0.36489	D	0.868314	P;D;P;D;D;D;P;D	0.89917	0.852;0.998;0.911;0.999;0.999;1.0;0.728;0.985	P;D;P;D;D;D;B;D	0.97110	0.747;0.993;0.747;0.997;0.998;1.0;0.428;0.915	D	0.98903	1.0777	9	0.87932	D	0	.	19.029	0.92948	0.0:1.0:0.0:0.0	.	794;794;972;468;468;468;794;468	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	Y	468;972;794;794;468;794;794;794;468;834;468;468	ENSP00000244364:C468Y;ENSP00000359790:C972Y;ENSP00000359805:C794Y;ENSP00000400883:C794Y;ENSP00000393645:C468Y;ENSP00000307959:C794Y;ENSP00000359824:C794Y;ENSP00000354508:C794Y;ENSP00000404924:C468Y;ENSP00000431030:C834Y;ENSP00000359801:C468Y;ENSP00000431003:C468Y	ENSP00000244364:C468Y	C	-	2	0	DST	56609360	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.644000	0.83416	2.726000	0.93360	0.579000	0.79373	TGC		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	87	0	0	0	1	0	4	87				
ANO6	196527	broad.mit.edu	37	12	45810504	45810504	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45810504C>A	ENST00000320560.8	+	17	2236	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.T678T|ANO6_ENST00000423947.3_Silent_p.T699T|ANO6_ENST00000441606.2_Silent_p.T660T|ANO6_ENST00000425752.2_Silent_p.T678T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	678					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGTTCGTCACCTTATTTGTGG	0.443																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2032-2034)acC>acA		anoctamin 6							182.0	148.0	160.0					12																	45810504		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45810504C>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2034C>A	12.37:g.45810504C>A						ANO6_ENST00000425752.2_Silent_p.T678T|ANO6_ENST00000423947.3_Silent_p.T699T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.T678T|ANO6_ENST00000441606.2_Silent_p.T660T	p.T678T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			17	2236	+			678					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.2034C>A	CCDS31782.1																																																																																				0.443	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		12	25	1	0	0.0202918	1	0.0209785	12	25				
CLIP1	6249	broad.mit.edu	37	12	122862245	122862245	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862245G>A	ENST00000540338.1	-	2	389	c.348C>T	c.(346-348)ggC>ggT	p.G116G	CLIP1_ENST00000358808.2_Silent_p.G116G|CLIP1_ENST00000302528.7_Silent_p.G116G|CLIP1_ENST00000537178.1_Silent_p.G116G|CLIP1_ENST00000361654.4_Silent_p.G116G			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGGTAAATATGCCCTTTAAAG	0.507																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(346-348)ggC>ggT		CAP-GLY domain containing linker protein 1							112.0	102.0	105.0					12																	122862245		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862245G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.348C>T	12.37:g.122862245G>A						CLIP1_ENST00000361654.4_Silent_p.G116G|CLIP1_ENST00000537178.1_Silent_p.G116G|CLIP1_ENST00000540338.1_Silent_p.G116G|CLIP1_ENST00000302528.7_Silent_p.G116G	p.G116G	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	502	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		116			CAP-Gly 1.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.348C>T	CCDS58285.1																																																																																				0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		32	61	0	0	0	1	0	32	61				
MICAL3	57553	broad.mit.edu	37	22	18385396	18385396	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18385396C>T	ENST00000441493.2	-	4	942		c.e4+1		MICAL3_ENST00000383094.3_Splice_Site|MICAL3_ENST00000400561.2_Splice_Site|MICAL3_ENST00000429452.1_Splice_Site|MICAL3_ENST00000414725.2_Splice_Site|MICAL3_ENST00000585038.1_Splice_Site|MICAL3_ENST00000207726.7_Splice_Site|MICAL3_ENST00000444520.1_Splice_Site	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTATAACTTACGTTCATTCTC	0.468																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.e4+1		microtubule associated monooxygenase, calponin and LIM domain containing 3							136.0	124.0	128.0					22																	18385396		1568	3582	5150	SO:0001630	splice_region_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18385396C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.589+1G>A	22.37:g.18385396C>T						MICAL3_ENST00000585038.1_Splice_Site|MICAL3_ENST00000383094.3_Splice_Site|MICAL3_ENST00000207726.7_Splice_Site|MICAL3_ENST00000414725.2_Splice_Site|MICAL3_ENST00000400561.2_Splice_Site|MICAL3_ENST00000444520.1_Splice_Site|MICAL3_ENST00000429452.1_Splice_Site		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	4	942	-		all_epithelial(15;0.198)						B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Splice_Site	SNP	ENST00000441493.2	37		CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968019	0.92855	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-B461K10.4;MICAL3	16765396	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	.		0.468	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Intron	7	8	0	0	0	1	0	7	8				
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749069	22749069	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22749069C>T	ENST00000390465.2	+	0	82									T cell receptor alpha variable 38-2/delta variable 8																		CACTTGTGATCTCCACCTGTC	0.473																																						ENST00000390465.2																			0																				123.0	125.0	125.0					14																	22749069		1994	4173	6167			0							g.chr14:22749069C>T	AE000661		14q11.2	2012-02-07			ENSG00000211817	ENSG00000211817		"""T cell receptors / TRA locus"""	12138	other	T cell receptor gene	"""T cell receptor alpha/delta variable 38-2/DV8"""					8188290	Standard	NG_001332		Approved	TRAV38-2/DV8, TRAV382DV8, TCRAV14S1, hADV38S2			OTTHUMG00000170838		14.37:g.22749069C>T														0	82	+									RNA	SNP	ENST00000390465.2	37																																																																																						0.473	TRAV38-2DV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410664.1	NG_001332		31	65	0	0	0	1	0	31	65				
ETV4	2118	broad.mit.edu	37	17	41610054	41610054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41610054C>T	ENST00000319349.5	-	8	1097	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	ETV4_ENST00000591713.1_Missense_Mutation_p.A267T|ETV4_ENST00000538265.1_Missense_Mutation_p.A228T|ETV4_ENST00000545954.1_Missense_Mutation_p.A228T|ETV4_ENST00000545089.1_Missense_Mutation_p.A213T|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000393664.2_Missense_Mutation_p.A267T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	267					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GAGTCGTAGGCGAAGTCCGTC	0.567			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(799-801)Gcc>Acc		ets variant 4							67.0	64.0	65.0					17																	41610054		2203	4299	6502	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610054C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.799G>A	17.37:g.41610054C>T	ENSP00000321835:p.Ala267Thr					ETV4_ENST00000591713.1_Missense_Mutation_p.A267T|ETV4_ENST00000538265.1_Missense_Mutation_p.A228T|ETV4_ENST00000393664.2_Missense_Mutation_p.A267T|ETV4_ENST00000545954.1_Missense_Mutation_p.A228T|ETV4_ENST00000545089.1_Missense_Mutation_p.A213T	p.A267T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	8	1097	-		Breast(137;0.00908)	267					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.799G>A	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993753	0.35131	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.6	1.39	0.22231	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.965937	0.08675	N	0.910303	T	0.11495	0.0280	L	0.31664	0.95	0.27736	N	0.944659	B;B;P	0.37663	0.004;0.386;0.604	B;B;B	0.32465	0.005;0.102;0.146	T	0.25433	-1.0132	10	0.22706	T	0.39	.	2.7171	0.05190	0.1236:0.5026:0.1128:0.2609	.	213;228;267	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	T	267;267;228;228;213	ENSP00000321835:A267T;ENSP00000377273:A267T;ENSP00000443846:A228T;ENSP00000440023:A228T;ENSP00000441749:A213T	ENSP00000321835:A267T	A	-	1	0	ETV4	38965580	0.988000	0.35896	1.000000	0.80357	0.988000	0.76386	0.228000	0.17814	0.312000	0.23038	-0.275000	0.10095	GCC		0.567	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		15	35	0	0	0	1	0	15	35				
ZC3H4	23211	broad.mit.edu	37	19	47575268	47575268	+	Missense_Mutation	SNP	G	G	A	rs201900826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47575268G>A	ENST00000253048.5	-	13	1950	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	638	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		gtgcatgtccgggtgcatgtc	0.672																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1912-1914)cCg>cTg		zinc finger CCCH-type containing 4		G	LEU/PRO	1,4217		0,1,2108	34.0	38.0	37.0		1913	4.6	1.0	19		37	1,8463		0,1,4231	yes	missense	ZC3H4	NM_015168.1	98	0,2,6339	AA,AG,GG		0.0118,0.0237,0.0158	probably-damaging	638/1304	47575268	2,12680	2109	4232	6341	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575268G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1913C>T	19.37:g.47575268G>A	ENSP00000253048:p.Pro638Leu					ZC3H4_ENST00000594019.1_Intron	p.P638L	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	1950	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	638			Pro-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1913C>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445641	0.43429	2.37E-4	1.18E-4	ENSG00000130749	ENST00000253048	T	0.19938	2.11	4.58	4.58	0.56647	.	0.562985	0.17570	N	0.169517	T	0.36468	0.0968	L	0.38175	1.15	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	T	0.10613	-1.0622	10	0.62326	D	0.03	.	14.2988	0.66331	0.0:0.0:1.0:0.0	.	638	Q9UPT8	ZC3H4_HUMAN	L	638	ENSP00000253048:P638L	ENSP00000253048:P638L	P	-	2	0	ZC3H4	52267108	1.000000	0.71417	0.991000	0.47740	0.318000	0.28184	5.569000	0.67391	2.100000	0.63781	0.551000	0.68910	CCG		0.672	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			6	2	0	0	0	1	0	6	2				
VPS13B	157680	broad.mit.edu	37	8	100523657	100523657	+	Missense_Mutation	SNP	G	G	A	rs531149269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100523657G>A	ENST00000358544.2	+	29	4736	c.4625G>A	c.(4624-4626)cGc>cAc	p.R1542H	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1517H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1542					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGACATCCCGCAATTTACCT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17510	0.0		0.0	False		,,,				2504	0.0				Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4624-4626)cGc>cAc		vacuolar protein sorting 13 homolog B (yeast)							40.0	38.0	39.0					8																	100523657		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523657G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4625G>A	8.37:g.100523657G>A	ENSP00000351346:p.Arg1542His					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1517H|VPS13B_ENST00000395996.1_3'UTR	p.R1542H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4736	+	Breast(36;3.73e-07)		1542					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4625G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345536	0.82022	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69926	-0.44;-0.43	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	L	0.50333	1.59	0.80722	D	1	B;B;B	0.31640	0.333;0.333;0.225	B;B;B	0.25506	0.061;0.061;0.028	T	0.62632	-0.6813	10	0.62326	D	0.03	.	14.1972	0.65679	0.0725:0.0:0.9275:0.0	.	1541;1517;1542	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	H	1517;1542	ENSP00000349685:R1517H;ENSP00000351346:R1542H	ENSP00000349685:R1517H	R	+	2	0	VPS13B	100592833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.668000	0.83897	1.393000	0.46605	0.585000	0.79938	CGC		0.368	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		19	17	0	0	0	1	0	19	17				
IGLV8-61	28774	broad.mit.edu	37	22	22453443	22453443	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22453443G>T	ENST00000390283.2	+	0	235									immunoglobulin lambda variable 8-61																		GCTGGTACCAGCAGACCCCAG	0.572																																						ENST00000390283.2																			0																				114.0	120.0	118.0					22																	22453443		2015	4166	6181			0							g.chr22:22453443G>T	Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453443G>T														0	235	+									RNA	SNP	ENST00000390283.2	37																																																																																						0.572	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320321.1	NG_000002		28	62	1	0	9.39395e-14	1	1.19386e-13	28	62				
GPBAR1	151306	broad.mit.edu	37	2	219128211	219128211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219128211C>T	ENST00000522678.1	+	2	1632	c.764C>T	c.(763-765)cCg>cTg	p.P255L	GPBAR1_ENST00000521462.1_Missense_Mutation_p.P255L|GPBAR1_ENST00000519574.1_Missense_Mutation_p.P255L|GPBAR1_ENST00000479077.1_Missense_Mutation_p.P255L	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	255					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCAGCGCCCGCCACTGGGG	0.667																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(763-765)cCg>cTg		G protein-coupled bile acid receptor 1							10.0	12.0	12.0					2																	219128211		1872	3942	5814	SO:0001583	missense	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219128211C>T	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.764C>T	2.37:g.219128211C>T	ENSP00000430886:p.Pro255Leu					GPBAR1_ENST00000521462.1_Missense_Mutation_p.P255L|GPBAR1_ENST00000519574.1_Missense_Mutation_p.P255L|GPBAR1_ENST00000479077.1_Missense_Mutation_p.P255L	p.P255L	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1632	+		Renal(207;0.0474)	255					B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	c.764C>T	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	C	0.578	-0.838185	0.02692	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.29	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.570083	0.16677	U	0.204129	T	0.15609	0.0376	N	0.08118	0	0.34624	D	0.718902	B	0.06786	0.001	B	0.08055	0.003	T	0.21211	-1.0252	10	0.11182	T	0.66	-10.0146	7.6526	0.28356	0.0:0.6558:0.0:0.3442	.	255	Q8TDU6	GPBAR_HUMAN	L	255	ENSP00000430698:P255L;ENSP00000430886:P255L;ENSP00000430202:P255L;ENSP00000428824:P255L	ENSP00000430698:P255L	P	+	2	0	GPBAR1	218836455	0.001000	0.12720	0.414000	0.26521	0.025000	0.11179	0.550000	0.23345	0.616000	0.30141	-0.254000	0.11334	CCG		0.667	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		3	9	0	0	0	1	0	3	9				
BRF2	55290	broad.mit.edu	37	8	37704663	37704663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37704663A>G	ENST00000220659.6	-	3	365	c.245T>C	c.(244-246)gTt>gCt	p.V82A	BRF2_ENST00000520601.1_Missense_Mutation_p.V82A|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CAACTGCAGAACTCGACAAAG	0.532																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(244-246)gTt>gCt		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							105.0	100.0	101.0					8																	37704663		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704663A>G	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.245T>C	8.37:g.37704663A>G	ENSP00000220659:p.Val82Ala					BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.V82A	p.V82A	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	365	-		Lung NSC(58;0.118)|all_lung(54;0.195)	82					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.245T>C	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598741	0.66332	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.69	5.69	0.88448	Cyclin-like (3);	0.184418	0.47093	D	0.000241	T	0.46737	0.1408	L	0.50333	1.59	0.80722	D	1	B	0.33000	0.393	B	0.27500	0.08	T	0.48175	-0.9058	9	0.02654	T	1	.	15.951	0.79840	1.0:0.0:0.0:0.0	.	82	Q9HAW0	BRF2_HUMAN	A	82;59;82	.	ENSP00000220659:V82A	V	-	2	0	BRF2	37823821	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	6.518000	0.73764	2.177000	0.69029	0.455000	0.32223	GTT		0.532	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		33	46	0	0	0	1	0	33	46				
OR8I2	120586	broad.mit.edu	37	11	55861327	55861327	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55861327G>T	ENST00000302124.2	+	1	575	c.544G>T	c.(544-546)Gct>Tct	p.A182S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACACCACAGCTCTTTTAGC	0.428																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(544-546)Gct>Tct		olfactory receptor, family 8, subfamily I, member 2							153.0	143.0	147.0					11																	55861327		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861327G>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.544G>T	11.37:g.55861327G>T	ENSP00000303864:p.Ala182Ser					OR8I2_ENST00000560768.1_Missense_Mutation_p.A182S	p.A182S			Q8N0Y5	OR8I2_HUMAN			1	575	+	Esophageal squamous(21;0.00693)		182					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.544G>T	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711668	0.30322	.	.	ENSG00000172154	ENST00000302124	T	0.00107	8.72	4.33	0.98	0.19750	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001170	T	0.00109	0.0003	L	0.28400	0.85	0.09310	N	1	B	0.14805	0.011	B	0.19391	0.025	T	0.30736	-0.9968	10	0.66056	D	0.02	-5.3382	8.4487	0.32858	0.0989:0.5165:0.3847:0.0	.	182	Q8N0Y5	OR8I2_HUMAN	S	182	ENSP00000303864:A182S	ENSP00000303864:A182S	A	+	1	0	OR8I2	55617903	0.000000	0.05858	0.845000	0.33349	0.102000	0.19082	-0.627000	0.05521	0.359000	0.24239	-0.423000	0.05987	GCT		0.428	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		11	107	1	0	1.5842e-08	1	1.90059e-08	11	107				
SPNS1	83985	broad.mit.edu	37	16	28994535	28994535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28994535G>A	ENST00000311008.11	+	10	1621	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	LAT_ENST00000564277.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.R460H|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000352260.7_Missense_Mutation_p.R341H|SPNS1_ENST00000334536.8_Missense_Mutation_p.R363H|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.R342H|LAT_ENST00000395456.2_5'Flank	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	415					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTACCCGACGCTCCACCGCC	0.632																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1243-1245)cGc>cAc		spinster homolog 1 (Drosophila)							79.0	64.0	69.0					16																	28994535		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28994535G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1244G>A	16.37:g.28994535G>A	ENSP00000309945:p.Arg415His					SPNS1_ENST00000565975.1_Missense_Mutation_p.R460H|SPNS1_ENST00000352260.7_Missense_Mutation_p.R341H|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.R363H|SPNS1_ENST00000323081.8_Missense_Mutation_p.R342H	p.R415H	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			10	1621	+			415					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.1244G>A	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636085	0.67130	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.66	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.69078	0.979;0.996;0.997;0.958	P;P;P;P	0.62649	0.735;0.883;0.905;0.493	D	0.84419	0.0570	10	0.66056	D	0.02	.	15.0877	0.72167	0.0:0.0:1.0:0.0	.	342;341;415;363	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	H	415;363;341;342	ENSP00000309945:R415H;ENSP00000335494:R363H;ENSP00000306050:R341H;ENSP00000318228:R342H	ENSP00000309945:R415H	R	+	2	0	SPNS1	28902036	1.000000	0.71417	0.619000	0.29118	0.139000	0.21198	7.120000	0.77153	2.410000	0.81850	0.561000	0.74099	CGC		0.632	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		16	30	0	0	0	1	0	16	30				
SNX19	399979	broad.mit.edu	37	11	130785000	130785000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785000C>T	ENST00000265909.4	-	1	1404	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.A279T	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	279					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGGGCACTGGCTGGGCAGGGT	0.562																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(835-837)Gcc>Acc		sorting nexin 19							77.0	85.0	82.0					11																	130785000		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785000C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.835G>A	11.37:g.130785000C>T	ENSP00000265909:p.Ala279Thr					SNX19_ENST00000533214.1_Missense_Mutation_p.A279T|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	p.A279T	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1404	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	279					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.835G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	4.214	0.038452	0.08148	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.15487	2.85;2.42	4.81	-7.18	0.01505	.	0.514478	0.21649	N	0.071203	T	0.05686	0.0149	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32903	-0.9889	10	0.14656	T	0.56	0.0076	0.8872	0.01246	0.1824:0.2534:0.2833:0.2809	.	279;279	E9PKB9;Q92543	.;SNX19_HUMAN	T	279	ENSP00000265909:A279T;ENSP00000435390:A279T	ENSP00000265909:A279T	A	-	1	0	SNX19	130290210	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.868000	0.04236	-1.950000	0.01030	-2.857000	0.00101	GCC		0.562	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		61	76	0	0	0	1	0	61	76				
CCDC129	223075	broad.mit.edu	37	7	31592682	31592682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31592682G>A	ENST00000407970.3	+	2	82	c.44G>A	c.(43-45)gGc>gAc	p.G15D	CCDC129_ENST00000409210.1_5'Flank|CCDC129_ENST00000319386.3_Missense_Mutation_p.G15D|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.G41D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	15										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTCAGGAAGGCCAGGAAAAG	0.498																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(43-45)gGc>gAc		coiled-coil domain containing 129							101.0	79.0	86.0					7																	31592682		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31592682G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.44G>A	7.37:g.31592682G>A	ENSP00000384416:p.Gly15Asp					CCDC129_ENST00000451887.2_Missense_Mutation_p.G41D|CCDC129_ENST00000407970.3_Missense_Mutation_p.G15D|CCDC129_ENST00000482748.1_Intron	p.G15D			Q6ZRS4	CC129_HUMAN			2	1037	+			15					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.44G>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523004	0.44866	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	T;T;T;T;T;T	0.47177	0.85;0.88;2.17;2.4;0.86;2.39	5.35	1.4	0.22301	.	0.740081	0.11747	N	0.533412	T	0.39410	0.1077	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.27140	0.169;0.169;0.169;0.169	B;B;B;B	0.28553	0.091;0.091;0.091;0.091	T	0.43766	-0.9371	10	0.66056	D	0.02	-6.0522	2.2355	0.04007	0.1684:0.1526:0.5212:0.1577	.	41;25;15;15	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	D	15;15;15;15;15;41;25	ENSP00000387220:G15D;ENSP00000390544:G15D;ENSP00000313062:G15D;ENSP00000384416:G15D;ENSP00000413233:G15D;ENSP00000395835:G41D	ENSP00000313062:G15D	G	+	2	0	CCDC129	31559207	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.493000	0.22451	0.147000	0.19030	0.655000	0.94253	GGC		0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		7	5	0	0	0	1	0	7	5				
LGR5	8549	broad.mit.edu	37	12	71977622	71977622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71977622C>A	ENST00000266674.5	+	18	2143	c.1832C>A	c.(1831-1833)gCc>gAc	p.A611D	LGR5_ENST00000540815.2_Missense_Mutation_p.A587D|LGR5_ENST00000536515.1_Missense_Mutation_p.A539D|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	611					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCTCCAGTGCCGTGCTGGCT	0.512																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1831-1833)gCc>gAc		leucine-rich repeat containing G protein-coupled receptor 5							145.0	114.0	125.0					12																	71977622		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977622C>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1832C>A	12.37:g.71977622C>A	ENSP00000266674:p.Ala611Asp					LGR5_ENST00000540815.2_Missense_Mutation_p.A587D|LGR5_ENST00000536515.1_Missense_Mutation_p.A539D|RP11-186F10.2_ENST00000546601.1_RNA	p.A611D			O75473	LGR5_HUMAN			18	2143	+			611					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1832C>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800919	0.31869	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.85955	-2.05;-2.05;-2.05	5.84	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.534068	0.17993	N	0.155154	D	0.84674	0.5524	L	0.43923	1.385	0.09310	N	1	B;B	0.29671	0.214;0.254	B;P	0.44647	0.326;0.456	T	0.78597	-0.2142	10	0.72032	D	0.01	.	8.8995	0.35485	0.0:0.5645:0.3441:0.0914	.	587;611	O75473-2;O75473	.;LGR5_HUMAN	D	611;611;539;587	ENSP00000266674:A611D;ENSP00000443033:A539D;ENSP00000441035:A587D	ENSP00000266674:A611D	A	+	2	0	LGR5	70263889	1.000000	0.71417	0.002000	0.10522	0.013000	0.08279	5.021000	0.64072	1.451000	0.47736	0.655000	0.94253	GCC		0.512	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		29	44	1	0	8.16721e-17	1	1.05573e-16	29	44				
TTBK2	146057	broad.mit.edu	37	15	43045409	43045409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43045409A>G	ENST00000267890.6	-	14	2143	c.2035T>C	c.(2035-2037)Tca>Cca	p.S679P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	679					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCTGAAGTTGACTGTGTAGAT	0.413																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2035-2037)Tca>Cca		tau tubulin kinase 2							44.0	43.0	43.0					15																	43045409		1865	4105	5970	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43045409A>G	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2035T>C	15.37:g.43045409A>G	ENSP00000267890:p.Ser679Pro						p.S679P	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2143	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	679					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2035T>C	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174749	0.57692	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.49139	0.79	5.82	4.67	0.58626	.	0.227928	0.37136	N	0.002225	T	0.62134	0.2403	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.64776	0.929;0.878	T	0.64411	-0.6414	10	0.72032	D	0.01	.	12.9762	0.58538	0.8649:0.1351:0.0:0.0	.	610;679	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	P	679;609;1084	ENSP00000267890:S679P	ENSP00000263802:S1084P	S	-	1	0	TTBK2	40832701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.414000	0.73318	0.991000	0.38814	0.533000	0.62120	TCA		0.413	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		16	24	0	0	0	1	0	16	24				
GID8	54994	broad.mit.edu	37	20	61574940	61574940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61574940C>T	ENST00000266069.3	+	4	556	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	137						cell junction (GO:0030054)|nucleus (GO:0005634)											CGAGGAGAGCCGAGAGTGCCT	0.632																																						ENST00000266069.3																			0											c.(409-411)Cga>Tga		GID complex subunit 8							55.0	45.0	49.0					20																	61574940		2203	4300	6503	SO:0001587	stop_gained	54994							g.chr20:61574940C>T	AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.409C>T	20.37:g.61574940C>T	ENSP00000266069:p.Arg137*						p.R137*	NM_017896.2	NP_060366.1					4	556	+								E1P5I3|Q8N5M5	Nonsense_Mutation	SNP	ENST00000266069.3	37	c.409C>T	CCDS13510.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905193	0.72868	.	.	ENSG00000101193	ENST00000266069	.	.	.	5.5	0.401	0.16338	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-37.1233	20.6965	0.99706	0.257:0.743:0.0:0.0	.	.	.	.	X	137	.	ENSP00000266069:R137X	R	+	1	2	C20orf11	61045385	0.999000	0.42202	0.991000	0.47740	0.291000	0.27294	0.867000	0.27968	-0.133000	0.11537	-0.262000	0.10625	CGA		0.632	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2	NM_017896		14	20	0	0	0	1	0	14	20				
TIAL1	7073	broad.mit.edu	37	10	121337189	121337189	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121337189T>C	ENST00000436547.2	-	8	660	c.616A>G	c.(616-618)Act>Gct	p.T206A	TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369093.2_Missense_Mutation_p.T223A|TIAL1_ENST00000369092.4_Missense_Mutation_p.T83A	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	206	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGTACACAGTACAATTTTTT	0.368																																						ENST00000369092.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13						c.(247-249)Act>Gct		TIA1 cytotoxic granule-associated RNA binding protein-like 1							143.0	130.0	135.0					10																	121337189		2203	4300	6503	SO:0001583	missense	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121337189T>C	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.616A>G	10.37:g.121337189T>C	ENSP00000394902:p.Thr206Ala					TIAL1_ENST00000436547.2_Missense_Mutation_p.T206A|TIAL1_ENST00000369093.2_Missense_Mutation_p.T223A	p.T83A			Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	9	1555	-		Lung NSC(174;0.094)|all_lung(145;0.123)	206			RRM 1.		A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	c.247A>G	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586296	0.66105	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.35421	2.34;1.31;2.57	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.043323	0.85682	N	0.000000	T	0.71099	0.3300	H	0.95114	3.625	0.80722	D	1	P;D;P;P	0.69078	0.635;0.997;0.876;0.948	P;D;P;P	0.81914	0.869;0.995;0.551;0.837	T	0.81226	-0.1029	10	0.87932	D	0	-9.4097	15.4548	0.75305	0.0:0.0:0.0:1.0	.	83;83;223;206	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	A	223;83;206	ENSP00000358089:T223A;ENSP00000358088:T83A;ENSP00000394902:T206A	ENSP00000358088:T83A	T	-	1	0	TIAL1	121327179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.914000	0.87478	2.113000	0.64589	0.482000	0.46254	ACT		0.368	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		50	71	0	0	0	1	0	50	71				
ASB9	140462	broad.mit.edu	37	X	15266936	15266936	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15266936A>G	ENST00000380488.4	-	6	963	c.690T>C	c.(688-690)gcT>gcC	p.A230A	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Silent_p.A230A|ASB9_ENST00000380483.3_Silent_p.A220A|ASB9_ENST00000546332.1_Silent_p.A230A	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	230					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTTGCCTTCAGCATTCTTGG	0.562																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(688-690)gcT>gcC		ankyrin repeat and SOCS box containing 9							89.0	76.0	80.0					X																	15266936		2203	4300	6503	SO:0001819	synonymous_variant	140462				intracellular signal transduction			g.chrX:15266936A>G	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.690T>C	X.37:g.15266936A>G						ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Silent_p.A230A|ASB9_ENST00000380485.3_Silent_p.A230A|ASB9_ENST00000380483.3_Silent_p.A220A	p.A230A	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			7	1173	-	Hepatocellular(33;0.183)		230					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Silent	SNP	ENST00000380488.4	37	c.690T>C	CCDS35208.1																																																																																				0.562	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			22	47	0	0	0	1	0	22	47				
PWWP2B	170394	broad.mit.edu	37	10	134219521	134219521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134219521C>T	ENST00000305233.5	+	2	1576	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	506	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGTGGCCGGCGCGTGTTCTT	0.597																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1516-1518)gCg>gTg		PWWP domain containing 2B							179.0	178.0	179.0					10																	134219521		2202	4300	6502	SO:0001583	missense	170394							g.chr10:134219521C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1517C>T	10.37:g.134219521C>T	ENSP00000306324:p.Ala506Val					PWWP2B_ENST00000368609.4_Intron	p.A506V	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1576	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	506			PWWP.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1517C>T	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555179	0.86231	.	.	ENSG00000171813	ENST00000305233	T	0.77877	-1.13	4.28	4.28	0.50868	PWWP (2);	0.000000	0.64402	U	0.000003	D	0.89560	0.6750	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91788	0.5441	10	0.87932	D	0	.	16.2808	0.82678	0.0:1.0:0.0:0.0	.	506	Q6NUJ5	PWP2B_HUMAN	V	506	ENSP00000306324:A506V	ENSP00000306324:A506V	A	+	2	0	PWWP2B	134069511	1.000000	0.71417	0.620000	0.29132	0.479000	0.33129	7.021000	0.76425	2.396000	0.81511	0.563000	0.77884	GCG		0.597	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		41	53	0	0	0	1	0	41	53				
CNN3	1266	broad.mit.edu	37	1	95367782	95367782	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95367782A>G	ENST00000370206.4	-	4	662	c.279T>C	c.(277-279)atT>atC	p.I93I	CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Silent_p.I93I|CNN3_ENST00000394202.4_Intron|CNN3_ENST00000545882.1_Silent_p.I52I	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	93	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATAAGCCTGAATAGCTTTAA	0.348																																						ENST00000370206.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18						c.(277-279)atT>atC		calponin 3, acidic							88.0	80.0	83.0					1																	95367782		2203	4300	6503	SO:0001819	synonymous_variant	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95367782A>G	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.279T>C	1.37:g.95367782A>G						CNN3_ENST00000545882.1_Silent_p.I52I|CNN3_ENST00000394202.4_Intron|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Silent_p.I93I	p.I93I	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	4	662	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	93			CH.		B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	ENST00000370206.4	37	c.279T>C	CCDS30775.1																																																																																				0.348	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		19	42	0	0	0	1	0	19	42				
ABCC10	89845	broad.mit.edu	37	6	43400140	43400140	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400140T>C	ENST00000372530.4	+	3	637	c.422T>C	c.(421-423)tTg>tCg	p.L141S	ABCC10_ENST00000244533.3_Missense_Mutation_p.L98S|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	141					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTGGTAGCCTTGCTGCCAGCT	0.657																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(292-294)tTg>tCg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							57.0	55.0	56.0					6																	43400140		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400140T>C	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.422T>C	6.37:g.43400140T>C	ENSP00000361608:p.Leu141Ser					ABCC10_ENST00000372530.4_Missense_Mutation_p.L141S|ABCC10_ENST00000443426.2_Intron	p.L98S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	652	+	all_lung(25;0.00536)		141					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.293T>C	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594389	0.46214	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.53640	0.61;0.61	5.81	4.62	0.57501	.	0.681733	0.15904	N	0.238908	T	0.17109	0.0411	L	0.27053	0.805	0.24909	N	0.992056	P;B	0.36909	0.573;0.437	B;B	0.36186	0.219;0.109	T	0.09271	-1.0682	10	0.22109	T	0.4	-24.8664	13.0195	0.58777	0.0:0.0:0.1347:0.8653	.	98;141	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	141;98	ENSP00000361608:L141S;ENSP00000244533:L98S	ENSP00000244533:L98S	L	+	2	0	ABCC10	43508118	0.996000	0.38824	0.999000	0.59377	0.859000	0.49053	5.881000	0.69706	0.989000	0.38761	0.379000	0.24179	TTG		0.657	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		14	42	0	0	0	1	0	14	42				
GTSE1	51512	broad.mit.edu	37	22	46704517	46704517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704517C>A	ENST00000454366.1	+	4	651	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	128					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAAATAAACCTCTTTGAGAA	0.517																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(439-441)Ctc>Atc		G-2 and S-phase expressed 1							45.0	56.0	52.0					22																	46704517		2201	4296	6497	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704517C>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.439C>A	22.37:g.46704517C>A	ENSP00000415430:p.Leu147Ile						p.L147I	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	651	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	128					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.439C>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777123	0.31411	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07567	3.18	5.45	3.12	0.35913	.	0.392075	0.28665	N	0.014560	T	0.08891	0.0220	L	0.41632	1.29	0.29815	N	0.831296	P	0.36683	0.565	B	0.40165	0.321	T	0.09751	-1.0660	10	0.18276	T	0.48	-22.5503	13.0511	0.58954	0.4523:0.5477:0.0:0.0	.	128	Q9NYZ3	GTSE1_HUMAN	I	147;107	ENSP00000415430:L147I	ENSP00000354634:L107I	L	+	1	0	GTSE1	45083181	0.772000	0.28567	0.112000	0.21494	0.986000	0.74619	1.572000	0.36461	1.249000	0.43950	0.655000	0.94253	CTC		0.517	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		11	68	1	0	3.86212e-05	1	4.30401e-05	11	68				
ZBED4	9889	broad.mit.edu	37	22	50278317	50278317	+	Missense_Mutation	SNP	G	G	A	rs200590187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278317G>A	ENST00000216268.5	+	2	1484	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	336						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCACACCGCGCCATCGTG	0.637																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1006-1008)cGc>cAc		zinc finger, BED-type containing 4							65.0	65.0	65.0					22																	50278317		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278317G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1007G>A	22.37:g.50278317G>A	ENSP00000216268:p.Arg336His						p.R336H	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1484	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	336					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1007G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384858	0.61956	.	.	ENSG00000100426	ENST00000216268	T	0.50548	0.74	5.41	5.41	0.78517	Zinc finger, BED-type predicted (3);	0.058735	0.64402	D	0.000006	T	0.57301	0.2044	N	0.22421	0.69	0.54753	D	0.99998	D	0.89917	1.0	D	0.70935	0.971	T	0.60969	-0.7157	10	0.72032	D	0.01	-19.9869	19.3865	0.94557	0.0:0.0:1.0:0.0	.	336	O75132	ZBED4_HUMAN	H	336	ENSP00000216268:R336H	ENSP00000216268:R336H	R	+	2	0	ZBED4	48664321	1.000000	0.71417	0.949000	0.38748	0.075000	0.17131	6.596000	0.74113	2.818000	0.97014	0.650000	0.86243	CGC		0.637	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		23	44	0	0	0	1	0	23	44				
ELMOD2	255520	broad.mit.edu	37	4	141446679	141446679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141446679C>T	ENST00000323570.3	+	2	229	c.97C>T	c.(97-99)Cga>Tga	p.R33*	ELMOD2_ENST00000511887.2_Nonsense_Mutation_p.R33*	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	33					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TGAATTGCAGCGAATATTTGA	0.343																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(97-99)Cga>Tga		ELMO/CED-12 domain containing 2							121.0	120.0	121.0					4																	141446679		2203	4300	6503	SO:0001587	stop_gained	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141446679C>T	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.97C>T	4.37:g.141446679C>T	ENSP00000326342:p.Arg33*						p.R33*	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			2	229	+	all_hematologic(180;0.162)		33					B2R712|D3DNZ0	Nonsense_Mutation	SNP	ENST00000323570.3	37	c.97C>T	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376563	0.95945	.	.	ENSG00000179387	ENST00000323570;ENST00000507667;ENST00000502397	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0914	12.2419	0.54546	0.1702:0.8298:0.0:0.0	.	.	.	.	X	33	.	ENSP00000326342:R33X	R	+	1	2	ELMOD2	141666129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.877000	0.39598	2.313000	0.78055	0.561000	0.74099	CGA		0.343	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		37	64	0	0	0	1	0	37	64				
PHLPP2	23035	broad.mit.edu	37	16	71683149	71683149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71683149G>A	ENST00000568954.1	-	19	3994	c.3616C>T	c.(3616-3618)Cga>Tga	p.R1206*	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.R1241*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.R1206*|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000393524.2_Nonsense_Mutation_p.R1139*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1206					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCTGTCTTCGGATCCCAAAA	0.532																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3415-3417)Cga>Tga		PH domain and leucine rich repeat protein phosphatase 2							81.0	78.0	79.0					16																	71683149		2198	4300	6498	SO:0001587	stop_gained	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683149G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3616C>T	16.37:g.71683149G>A	ENSP00000457991:p.Arg1206*					PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.R1241*|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.R1206*|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.R1206*	p.R1139*			Q6ZVD8	PHLP2_HUMAN			17	4148	-			1206					A1L374|Q9NV17|Q9Y2E3	Nonsense_Mutation	SNP	ENST00000568954.1	37	c.3415C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	40	8.082362	0.98646	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	.	.	.	6.17	5.17	0.71159	.	0.183721	0.47455	D	0.000229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7944	15.5204	0.75862	0.0:0.0:0.8614:0.1386	.	.	.	.	X	1206;1139	.	ENSP00000348611:R1206X	R	-	1	2	PHLPP2	70240650	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.836000	0.62789	2.941000	0.99782	0.655000	0.94253	CGA		0.532	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		9	74	0	0	0	1	0	9	74				
TNC	3371	broad.mit.edu	37	9	117783498	117783498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117783498C>T	ENST00000350763.4	-	28	6955	c.6544G>A	c.(6544-6546)Gct>Act	p.A2182T	TNC_ENST00000542877.1_Missense_Mutation_p.A1819T|TNC_ENST00000423613.2_Missense_Mutation_p.A1909T|TNC_ENST00000346706.3_Missense_Mutation_p.A1636T|TNC_ENST00000537320.1_Missense_Mutation_p.A1545T|TNC_ENST00000341037.4_Missense_Mutation_p.A2000T|TNC_ENST00000345230.3_Missense_Mutation_p.A1545T|TNC_ENST00000535648.1_Missense_Mutation_p.A1727T|TNC_ENST00000340094.3_Missense_Mutation_p.A1818T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2182	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCATCTCAGCAAACTGGATT	0.488																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6544-6546)Gct>Act		tenascin C							140.0	124.0	129.0					9																	117783498		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117783498C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6544G>A	9.37:g.117783498C>T	ENSP00000265131:p.Ala2182Thr					TNC_ENST00000345230.3_Missense_Mutation_p.A1545T|TNC_ENST00000542877.1_Missense_Mutation_p.A1819T|TNC_ENST00000423613.2_Missense_Mutation_p.A1909T|TNC_ENST00000346706.3_Missense_Mutation_p.A1636T|TNC_ENST00000537320.1_Missense_Mutation_p.A1545T|TNC_ENST00000340094.3_Missense_Mutation_p.A1818T|TNC_ENST00000341037.4_Missense_Mutation_p.A2000T|TNC_ENST00000535648.1_Missense_Mutation_p.A1727T	p.A2182T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			28	6955	-			2182			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6544G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408319	0.83340	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	N	0.04686	-0.185	0.40469	D	0.980324	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.40646	-0.9552	10	0.38643	T	0.18	.	18.5386	0.91019	0.0:1.0:0.0:0.0	.	1909;2182	E9PC84;P24821	.;TENA_HUMAN	T	1818;1727;1636;1545;2182;2000;1909;1545;1819	ENSP00000344400:A1818T;ENSP00000438152:A1727T;ENSP00000344555:A1636T;ENSP00000345861:A1545T;ENSP00000265131:A2182T;ENSP00000339553:A2000T;ENSP00000411406:A1909T;ENSP00000443478:A1545T;ENSP00000442242:A1819T	ENSP00000344400:A1818T	A	-	1	0	TNC	116823319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.374000	0.81015	0.655000	0.94253	GCT		0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	46	0	0	0	1	0	7	46				
OMG	4974	broad.mit.edu	37	17	29622720	29622720	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622720A>G	ENST00000247271.4	-	2	891	c.630T>C	c.(628-630)tcT>tcC	p.S210S	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	210					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GTTGGTCAAAAGATTGGTCTG	0.363																																						ENST00000247271.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13						c.(628-630)tcT>tcC		oligodendrocyte myelin glycoprotein							186.0	185.0	185.0					17																	29622720		2203	4300	6503	SO:0001819	synonymous_variant	4974				cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		g.chr17:29622720A>G		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.630T>C	17.37:g.29622720A>G						NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.S210S	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)	2	891	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	210					E1P659	Silent	SNP	ENST00000247271.4	37	c.630T>C	CCDS11265.1																																																																																				0.363	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544		70	134	0	0	0	1	0	70	134				
KMT2A	4297	broad.mit.edu	37	11	118342984	118342984	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118342984C>A	ENST00000389506.5	+	3	1110	c.1110C>A	c.(1108-1110)acC>acA	p.T370T	KMT2A_ENST00000534358.1_Silent_p.T370T|KMT2A_ENST00000354520.4_Silent_p.T370T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	370					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGATGCAACCATTGCTAAGC	0.428																																						ENST00000534358.1																			0											c.(1108-1110)acC>acA		lysine (K)-specific methyltransferase 2A							66.0	69.0	68.0					11																	118342984		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118342984C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1110C>A	11.37:g.118342984C>A						KMT2A_ENST00000389506.5_Silent_p.T370T|KMT2A_ENST00000354520.4_Silent_p.T370T	p.T370T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1133	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.1110C>A	CCDS31686.1																																																																																				0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		7	96	1	0	0.00198382	1	0.00210581	7	96				
RPTN	126638	broad.mit.edu	37	1	152127497	152127497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152127497G>A	ENST00000316073.3	-	3	2142	c.2078C>T	c.(2077-2079)aCc>aTc	p.T693I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	693	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGCCTGGTCTGGGCCTG	0.532																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2077-2079)aCc>aTc		repetin							273.0	227.0	241.0					1																	152127497		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127497G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2078C>T	1.37:g.152127497G>A	ENSP00000317895:p.Thr693Ile						p.T693I	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	2142	-			693			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.2078C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	5.496	0.276433	0.10403	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.13089	2.62	5.1	4.09	0.47781	.	1.144360	0.06903	U	0.806390	T	0.05960	0.0155	L	0.44542	1.39	0.09310	N	1	P	0.45902	0.868	B	0.39068	0.289	T	0.14254	-1.0479	10	0.52906	T	0.07	0.926	9.0986	0.36653	0.0:0.1455:0.6869:0.1676	.	693	Q6XPR3	RPTN_HUMAN	I	693;348	ENSP00000317895:T693I	ENSP00000317895:T693I	T	-	2	0	RPTN	150394121	0.081000	0.21417	0.030000	0.17652	0.034000	0.12701	2.588000	0.46137	2.379000	0.81126	0.643000	0.83706	ACC		0.532	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		57	112	0	0	0	1	0	57	112				
SPZ1	84654	broad.mit.edu	37	5	79616244	79616244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79616244C>T	ENST00000296739.4	+	1	455	c.210C>T	c.(208-210)aaC>aaT	p.N70N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	70					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGAAGTTTAACAATCTCTTAA	0.368																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(208-210)aaC>aaT		spermatogenic leucine zipper 1							72.0	69.0	70.0					5																	79616244		1824	4080	5904	SO:0001819	synonymous_variant	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616244C>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.210C>T	5.37:g.79616244C>T							p.N70N	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	455	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	70					B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	c.210C>T	CCDS43336.1																																																																																				0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		4	70	0	0	0	1	0	4	70				
DST	667	broad.mit.edu	37	6	56492955	56492955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56492955G>A	ENST00000361203.3	-	29	3854	c.3847C>T	c.(3847-3849)Cgg>Tgg	p.R1283W	DST_ENST00000244364.6_Missense_Mutation_p.R957W|DST_ENST00000518935.1_Missense_Mutation_p.R957W|DST_ENST00000370769.4_Missense_Mutation_p.R1283W|DST_ENST00000446842.2_Missense_Mutation_p.R957W|DST_ENST00000421834.2_Missense_Mutation_p.R1283W|DST_ENST00000370788.2_Missense_Mutation_p.R1283W|DST_ENST00000370765.6_Missense_Mutation_p.R957W|DST_ENST00000370754.5_Missense_Mutation_p.R1461W|DST_ENST00000312431.6_Missense_Mutation_p.R1283W			Q03001	DYST_HUMAN	dystonin	1283					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGTCCCGTAACCTAAGA	0.438																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4381-4383)Cgg>Tgg		dystonin							97.0	88.0	91.0					6																	56492955		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56492955G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3847C>T	6.37:g.56492955G>A	ENSP00000354508:p.Arg1283Trp					DST_ENST00000518935.1_Missense_Mutation_p.R957W|DST_ENST00000312431.6_Missense_Mutation_p.R1283W|DST_ENST00000370769.4_Missense_Mutation_p.R1283W|DST_ENST00000421834.2_Missense_Mutation_p.R1283W|DST_ENST00000370788.2_Missense_Mutation_p.R1283W|DST_ENST00000244364.6_Missense_Mutation_p.R957W|DST_ENST00000361203.3_Missense_Mutation_p.R1283W|DST_ENST00000446842.2_Missense_Mutation_p.R957W|DST_ENST00000370765.6_Missense_Mutation_p.R957W	p.R1461W			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		32	4380	-	Lung NSC(77;0.103)		1283					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4381C>T		.	.	.	.	.	.	.	.	.	.	G	17.62	3.435514	0.62955	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.86	4.03	0.46877	.	0.000000	0.50627	D	0.000117	T	0.35189	0.0923	L	0.42245	1.32	0.29955	N	0.819897	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.995;1.0;1.0;0.999;0.999	P;D;P;P;D;D;P;D	0.80764	0.72;0.965;0.72;0.586;0.972;0.994;0.72;0.944	T	0.20974	-1.0259	9	0.45353	T	0.12	.	15.3555	0.74423	0.0:0.0:0.7444:0.2556	.	1283;1283;1461;957;957;957;1283;957	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	W	957;1461;1283;1283;957;1283;1283;1283;957;1323;957;957	ENSP00000244364:R957W;ENSP00000359790:R1461W;ENSP00000359805:R1283W;ENSP00000400883:R1283W;ENSP00000393645:R957W;ENSP00000307959:R1283W;ENSP00000359824:R1283W;ENSP00000354508:R1283W;ENSP00000404924:R957W;ENSP00000431030:R1323W;ENSP00000359801:R957W;ENSP00000431003:R957W	ENSP00000244364:R957W	R	-	1	2	DST	56600914	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	5.503000	0.66962	0.887000	0.36136	-0.188000	0.12872	CGG		0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	31	0	0	0	1	0	10	31				
SPTBN1	6711	broad.mit.edu	37	2	54874343	54874343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54874343G>A	ENST00000356805.4	+	24	5223	c.4942G>A	c.(4942-4944)Gtg>Atg	p.V1648M	SPTBN1_ENST00000333896.5_Missense_Mutation_p.V1635M	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1648	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGCAGAGACCGTGCATCAGCT	0.547																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(4903-4905)Gtg>Atg		spectrin, beta, non-erythrocytic 1							104.0	98.0	100.0					2																	54874343		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54874343G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4942G>A	2.37:g.54874343G>A	ENSP00000349259:p.Val1648Met					SPTBN1_ENST00000356805.4_Missense_Mutation_p.V1648M	p.V1635M	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		23	5288	+			1648			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.4903G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602084	0.66445	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.58210	0.35;1.05	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.38531	1.155	0.47065	D	0.999301	P;P	0.43024	0.759;0.798	B;B	0.41174	0.349;0.269	T	0.49995	-0.8879	10	0.87932	D	0	.	13.5216	0.61572	0.071:0.0:0.929:0.0	.	1635;1648	Q01082-3;Q01082	.;SPTB2_HUMAN	M	1648;1635	ENSP00000349259:V1648M;ENSP00000334156:V1635M	ENSP00000334156:V1635M	V	+	1	0	SPTBN1	54727847	1.000000	0.71417	0.682000	0.30024	0.985000	0.73830	6.736000	0.74811	2.818000	0.97014	0.591000	0.81541	GTG		0.547	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			12	76	0	0	0	1	0	12	76				
ULBP3	79465	broad.mit.edu	37	6	150387291	150387291	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150387291G>A	ENST00000367339.2	-	2	124	c.96C>T	c.(94-96)caC>caT	p.H32H	ULBP3_ENST00000438272.2_Silent_p.H32H			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	32	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACCAGAGAGAGTGAGCGTCTA	0.488																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(94-96)caC>caT		UL16 binding protein 3							65.0	62.0	63.0					6																	150387291		2203	4300	6503	SO:0001819	synonymous_variant	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150387291G>A	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.96C>T	6.37:g.150387291G>A						ULBP3_ENST00000438272.2_Silent_p.H32H	p.H32H			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	2	124	-		Ovarian(120;0.12)	32			MHC class I alpha-1 like.		Q5VY82|Q8IZX5|Q8TE75	Silent	SNP	ENST00000367339.2	37	c.96C>T	CCDS5225.1																																																																																				0.488	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			18	23	0	0	0	1	0	18	23				
PDK4	5166	broad.mit.edu	37	7	95217073	95217073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95217073A>G	ENST00000005178.5	-	8	1033	c.836T>C	c.(835-837)aTt>aCt	p.I279T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	279	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAAGACAACAATAACCTCTAT	0.383																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(835-837)aTt>aCt		pyruvate dehydrogenase kinase, isozyme 4							81.0	78.0	79.0					7																	95217073		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95217073A>G	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.836T>C	7.37:g.95217073A>G	ENSP00000005178:p.Ile279Thr						p.I279T	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		8	1033	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		279			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.836T>C	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	A	4.935	0.173760	0.09391	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.51325	0.71	5.47	1.51	0.23008	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.371203	0.31092	N	0.008278	T	0.17365	0.0417	N	0.03000	-0.44	0.26173	N	0.979836	B	0.02656	0.0	B	0.11329	0.006	T	0.26292	-1.0107	10	0.08381	T	0.77	.	6.9262	0.24416	0.5687:0.0:0.4313:0.0	.	279	Q16654	PDK4_HUMAN	T	279;243	ENSP00000005178:I279T	ENSP00000005178:I279T	I	-	2	0	PDK4	95055009	0.000000	0.05858	0.976000	0.42696	0.693000	0.40251	-0.046000	0.11983	0.470000	0.27294	0.482000	0.46254	ATT		0.383	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		4	56	0	0	0	1	0	4	56				
NCAPH	23397	broad.mit.edu	37	2	97009879	97009879	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97009879C>A	ENST00000240423.4	+	6	675	c.632C>A	c.(631-633)gCt>gAt	p.A211D	NCAPH_ENST00000455200.1_Missense_Mutation_p.A200D|NCAPH_ENST00000427946.1_Missense_Mutation_p.A75D	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	211					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAAAAAGGCTGTAAAGCCA	0.418																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(598-600)gCt>gAt		non-SMC condensin I complex, subunit H							103.0	93.0	96.0					2																	97009879		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97009879C>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.632C>A	2.37:g.97009879C>A	ENSP00000240423:p.Ala211Asp					NCAPH_ENST00000427946.1_Missense_Mutation_p.A75D|NCAPH_ENST00000240423.4_Missense_Mutation_p.A211D	p.A200D			Q15003	CND2_HUMAN			6	894	+		Ovarian(717;0.0221)	211					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.599C>A	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372890	0.42105	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.29	3.09	0.35607	.	0.989619	0.08239	N	0.976409	T	0.38295	0.1035	M	0.63843	1.955	0.09310	N	1	B;B;B;B	0.32467	0.234;0.234;0.372;0.234	B;B;B;B	0.37198	0.159;0.159;0.243;0.159	T	0.37641	-0.9697	10	0.16896	T	0.51	-0.354	3.1611	0.06521	0.2042:0.5514:0.0:0.2445	.	187;200;200;211	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	D	211;75;200;200	ENSP00000240423:A211D;ENSP00000400774:A75D;ENSP00000405237:A200D;ENSP00000407308:A200D	ENSP00000240423:A211D	A	+	2	0	NCAPH	96373606	0.047000	0.20315	0.930000	0.37139	0.780000	0.44128	0.816000	0.27267	1.370000	0.46153	0.644000	0.83932	GCT		0.418	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		10	31	1	0	0.000442599	1	0.00048047	10	31				
FBL	2091	broad.mit.edu	37	19	40327309	40327309	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40327309C>T	ENST00000221801.3	-	7	796		c.e7-1		DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|FBL_ENST00000593503.1_Splice_Site|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000430012.2_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin						histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCCACCATTGCTAAGGAGAAA	0.547																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.e7-1		fibrillarin							92.0	77.0	82.0					19																	40327309		2203	4300	6503	SO:0001630	splice_region_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40327309C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.683-1G>A	19.37:g.40327309C>T						FBL_ENST00000593503.1_Splice_Site		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	7	796	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)						B5BUE8|O75259|Q6IAT5|Q9UPI6	Splice_Site	SNP	ENST00000221801.3	37		CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135420	0.77662	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0249	0.71663	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBL	45019149	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.266000	0.78452	2.123000	0.65237	0.655000	0.94253	.		0.547	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436	Intron	14	23	0	0	0	1	0	14	23				
LOC151174	151174	broad.mit.edu	37	2	239141008	239141008	+	5'Flank	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239141008G>T	ENST00000409070.1	-	0	0				AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000334973.4_5'Flank|AC096574.4_ENST00000456601.1_RNA|AC016757.3_ENST00000409376.1_5'Flank|AC016757.3_ENST00000409942.1_5'Flank																							TCTTCTCTCAGTATGGGGATG	0.527																																						ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:239141008G>T																													2.37:g.239141008G>T	Exception_encountered													0	684	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.527	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			6	57	1	0	1	1	1	6	57				
UPF1	5976	broad.mit.edu	37	19	18966764	18966764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18966764C>T	ENST00000599848.1	+	12	1817	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	UPF1_ENST00000262803.5_Silent_p.I525I			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	536					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGAGCAACATCGCCGTGGACC	0.602																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1573-1575)atC>atT		UPF1 regulator of nonsense transcripts homolog (yeast)							58.0	48.0	52.0					19																	18966764		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18966764C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1608C>T	19.37:g.18966764C>T						UPF1_ENST00000599848.1_Silent_p.I536I	p.I525I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			12	1847	+			536					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.1575C>T																																																																																					0.602	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		9	14	0	0	0	1	0	9	14				
CUBN	8029	broad.mit.edu	37	10	16877108	16877108	+	Missense_Mutation	SNP	C	C	T	rs145872906	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16877108C>T	ENST00000377833.4	-	64	10332	c.10267G>A	c.(10267-10269)Gtt>Att	p.V3423I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3423	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAGAGTAACGGTGCAATCC	0.453													C|||	12	0.00239617	0.0091	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10267-10269)Gtt>Att		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	ILE/VAL	40,4366	44.6+/-78.6	0,40,2163	179.0	151.0	160.0		10267	-8.5	0.0	10	dbSNP_134	160	0,8600		0,0,4300	yes	missense	CUBN	NM_001081.3	29	0,40,6463	TT,TC,CC		0.0,0.9079,0.3076	benign	3423/3624	16877108	40,12966	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877108C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10267G>A	10.37:g.16877108C>T	ENSP00000367064:p.Val3423Ile						p.V3423I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10332	-			3423			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10267G>A	CCDS7113.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	1.021	-0.684804	0.03328	0.009079	0.0	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34072	1.38	4.84	-8.52	0.00920	CUB (5);	1.175350	0.06651	N	0.762667	T	0.07593	0.0191	N	0.04994	-0.135	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.49082	-0.8976	10	0.02654	T	1	.	18.0228	0.89260	0.0:0.2371:0.0:0.7629	.	3423	O60494	CUBN_HUMAN	I	3423;264	ENSP00000367064:V3423I	ENSP00000367064:V3423I	V	-	1	0	CUBN	16917114	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.200000	0.17257	-1.990000	0.00978	-1.149000	0.01842	GTT		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		27	58	0	0	0	1	0	27	58				
LUZP1	7798	broad.mit.edu	37	1	23418567	23418567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23418567G>A	ENST00000302291.4	-	4	2989	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	LUZP1_ENST00000374623.3_Missense_Mutation_p.L730F|LUZP1_ENST00000314174.5_Missense_Mutation_p.L730F|LUZP1_ENST00000418342.1_Missense_Mutation_p.L730F			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	730					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTATCTGGGAGCTCCATGGTA	0.483																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2188-2190)Ctc>Ttc		leucine zipper protein 1							173.0	190.0	184.0					1																	23418567		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418567G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2188C>T	1.37:g.23418567G>A	ENSP00000303758:p.Leu730Phe					LUZP1_ENST00000314174.5_Missense_Mutation_p.L730F|LUZP1_ENST00000374623.3_Missense_Mutation_p.L730F|LUZP1_ENST00000418342.1_Missense_Mutation_p.L730F	p.L730F			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2989	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	730					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2188C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	0.334	-0.954420	0.02285	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.14144	2.76;2.76;2.76;2.53	5.27	-7.07	0.01563	.	1.417150	0.04539	N	0.387787	T	0.03871	0.0109	N	0.01267	-0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43523	-0.9386	10	0.08837	T	0.75	.	10.7973	0.46468	0.1289:0.1062:0.6601:0.1048	.	730;730	Q86V48-2;Q86V48	.;LUZP1_HUMAN	F	730	ENSP00000393460:L730F;ENSP00000363752:L730F;ENSP00000303758:L730F;ENSP00000313705:L730F	ENSP00000303758:L730F	L	-	1	0	LUZP1	23291154	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.062000	0.11674	-1.511000	0.01794	-0.350000	0.07774	CTC		0.483	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		105	168	0	0	0	1	0	105	168				
PTPDC1	138639	broad.mit.edu	37	9	96847695	96847695	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847695A>G	ENST00000375360.3	+	3	585	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y134C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	82					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAGGGGGTTTACTCATCCTGG	0.547																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(244-246)tAc>tGc		protein tyrosine phosphatase domain containing 1							84.0	66.0	72.0					9																	96847695		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96847695A>G	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.245A>G	9.37:g.96847695A>G	ENSP00000364509:p.Tyr82Cys					PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y134C	p.Y82C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			3	585	+			82					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.245A>G	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	19.28	3.796642	0.70567	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.66280	-0.2;-0.2	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.83012	2.62	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.70935	0.935;0.971;0.95;0.935	T	0.82835	-0.0261	10	0.87932	D	0	-20.1364	13.6541	0.62328	1.0:0.0:0.0:0.0	.	136;134;136;82	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	C	82;134	ENSP00000364509:Y82C;ENSP00000288976:Y134C	ENSP00000288976:Y134C	Y	+	2	0	PTPDC1	95887516	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	8.771000	0.91751	2.226000	0.72624	0.482000	0.46254	TAC		0.547	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		17	29	0	0	0	1	0	17	29				
RPTOR	57521	broad.mit.edu	37	17	78866649	78866649	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866649A>G	ENST00000306801.3	+	19	2584	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.N583S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	741					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTTTGCAGAACCTGAGTTTG	0.498																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2221-2223)aAc>aGc		regulatory associated protein of MTOR, complex 1							114.0	127.0	123.0					17																	78866649		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78866649A>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2222A>G	17.37:g.78866649A>G	ENSP00000307272:p.Asn741Ser					RPTOR_ENST00000544334.2_Missense_Mutation_p.N583S|RPTOR_ENST00000575542.1_3'UTR	p.N741S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			19	2584	+			741					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2222A>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508433	0.64410	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.46451	0.99;0.87	4.65	4.65	0.58169	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	N	0.17800	0.525	0.80722	D	1	D;B	0.56035	0.974;0.004	D;B	0.70487	0.969;0.004	T	0.21280	-1.0250	10	0.07813	T	0.8	.	14.086	0.64957	1.0:0.0:0.0:0.0	.	583;741	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	741;583	ENSP00000307272:N741S;ENSP00000442479:N583S	ENSP00000307272:N741S	N	+	2	0	RPTOR	76481244	1.000000	0.71417	0.992000	0.48379	0.838000	0.47535	8.755000	0.91646	1.737000	0.51674	0.528000	0.53228	AAC		0.498	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		37	40	0	0	0	1	0	37	40				
IPO5	3843	broad.mit.edu	37	13	98645166	98645166	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98645166C>T	ENST00000490680.1	+	7	755	c.690C>T	c.(688-690)taC>taT	p.Y230Y	IPO5_ENST00000261574.5_Silent_p.Y248Y|IPO5_ENST00000539640.1_Silent_p.Y105Y			O00410	IPO5_HUMAN	importin 5	230					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTCGTGCTACCAGAATGATG	0.408																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(742-744)taC>taT		importin 5							143.0	132.0	136.0					13																	98645166		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98645166C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.690C>T	13.37:g.98645166C>T						IPO5_ENST00000539640.1_Silent_p.Y105Y|IPO5_ENST00000490680.1_Silent_p.Y230Y	p.Y248Y	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			10	924	+			230					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.744C>T		.	.	.	.	.	.	.	.	.	.	C	9.232	1.036080	0.19590	.	.	ENSG00000065150	ENST00000469360	.	.	.	6.17	4.47	0.54385	.	.	.	.	.	T	0.62454	0.2429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59337	-0.7473	4	.	.	.	-0.6485	10.972	0.47444	0.0:0.7543:0.0:0.2457	.	.	.	.	I	232	.	.	T	+	2	0	IPO5	97443167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.822000	0.39052	0.959000	0.37980	-0.136000	0.14681	ACC		0.408	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		27	54	0	0	0	1	0	27	54				
ATP2B2	491	broad.mit.edu	37	3	10452379	10452379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10452379G>A	ENST00000352432.4	-	2	389	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T107M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T107M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T107M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	107					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGAGCGTCACGTCCTG	0.557																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(319-321)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 2							189.0	202.0	197.0					3																	10452379		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452379G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.320C>T	3.37:g.10452379G>A	ENSP00000324172:p.Thr107Met					ATP2B2_ENST00000383800.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T107M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T107M	p.T107M			Q01814	AT2B2_HUMAN			5	895	-			107					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.320C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005465	0.93287	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88123	0.6352	M	0.71296	2.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76071	0.987;0.981;0.953	D	0.88609	0.3155	10	0.87932	D	0	-28.0547	19.7543	0.96284	0.0:0.0:1.0:0.0	.	107;119;107	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	107;107;107;107;107;73;107	ENSP00000324172:T107M;ENSP00000373311:T107M;ENSP00000380267:T107M;ENSP00000353414:T107M;ENSP00000344677:T107M	ENSP00000342954:T107M	T	-	2	0	ATP2B2	10427379	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	ACG		0.557	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		101	153	0	0	0	1	0	101	153				
KEAP1	9817	broad.mit.edu	37	19	10600040	10600040	+	Silent	SNP	G	G	A	rs375114071		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10600040G>A	ENST00000171111.5	-	5	2083	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	KEAP1_ENST00000393623.2_Silent_p.V512V|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	512					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCAGGACGCAGACGCCTAAAG	0.572																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1534-1536)gtC>gtT		kelch-like ECH-associated protein 1							55.0	44.0	48.0					19																	10600040		2203	4300	6503	SO:0001819	synonymous_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600040G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1536C>T	19.37:g.10600040G>A						KEAP1_ENST00000393623.2_Silent_p.V512V	p.V512V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	2083	-			512					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	c.1536C>T	CCDS12239.1																																																																																				0.572	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		14	22	0	0	0	1	0	14	22				
ZNF799	90576	broad.mit.edu	37	19	12503017	12503017	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12503017A>G	ENST00000430385.3	-	4	395	c.195T>C	c.(193-195)tgT>tgC	p.C65C	CTD-3105H18.16_ENST00000595562.1_Silent_p.C65C|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Silent_p.C33C|ZNF799_ENST00000595766.1_3'UTR	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTAACATACGACATCTGTAAA	0.318																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(97-99)tgT>tgC		zinc finger protein 799							43.0	40.0	41.0					19																	12503017		2188	4272	6460	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12503017A>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.195T>C	19.37:g.12503017A>G						CTD-3105H18.16_ENST00000595562.1_Silent_p.C65C|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.C65C|ZNF799_ENST00000595766.1_3'UTR	p.C33C			Q96GE5	ZN799_HUMAN			4	848	-			65			KRAB.			Silent	SNP	ENST00000430385.3	37	c.99T>C	CCDS45989.1																																																																																				0.318	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	34	0	0	0	1	0	5	34				
SPATA12	353324	broad.mit.edu	37	3	57107737	57107737	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57107737T>A	ENST00000334325.1	+	2	690	c.15T>A	c.(13-15)gcT>gcA	p.A5A	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	5										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CCAGTTCTGCTCTGACTTGTG	0.547																																						ENST00000334325.1																			0				large_intestine(2)|lung(1)	3						c.(13-15)gcT>gcA		spermatogenesis associated 12							39.0	39.0	39.0					3																	57107737		2203	4300	6503	SO:0001819	synonymous_variant	353324							g.chr3:57107737T>A	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.15T>A	3.37:g.57107737T>A						ARHGEF3_ENST00000338458.4_Intron	p.A5A	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	690	+			5					A0AVA8|B2RMW1	Silent	SNP	ENST00000334325.1	37	c.15T>A	CCDS2879.1																																																																																				0.547	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2	NM_181727		4	40	0	0	0	1	0	4	40				
TTC14	151613	broad.mit.edu	37	3	180328127	180328127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180328127C>T	ENST00000296015.4	+	12	2242	c.2110C>T	c.(2110-2112)Cgt>Tgt	p.R704C	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	704							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCAAAGATACCGTTTAAATAC	0.388																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(2110-2112)Cgt>Tgt		tetratricopeptide repeat domain 14							80.0	83.0	82.0					3																	180328127		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180328127C>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2110C>T	3.37:g.180328127C>T	ENSP00000296015:p.Arg704Cys					TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	p.R704C	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2242	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		704					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.2110C>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424356	0.43020	.	.	ENSG00000163728	ENST00000296015	T	0.48836	0.8	6.04	6.04	0.98038	.	0.404420	0.23589	N	0.046562	T	0.42765	0.1217	N	0.08118	0	0.21256	N	0.999744	D	0.89917	1.0	P	0.61328	0.887	T	0.41431	-0.9509	10	0.87932	D	0	-2.1565	8.4389	0.32803	0.1934:0.7306:0.0:0.076	.	704	Q96N46	TTC14_HUMAN	C	704	ENSP00000296015:R704C	ENSP00000296015:R704C	R	+	1	0	TTC14	181810821	0.006000	0.16342	0.017000	0.16124	0.583000	0.36354	1.866000	0.39489	2.873000	0.98535	0.563000	0.77884	CGT		0.388	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		5	71	0	0	0	1	0	5	71				
CUL9	23113	broad.mit.edu	37	6	43168246	43168246	+	Missense_Mutation	SNP	C	C	T	rs148664624	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43168246C>T	ENST00000252050.4	+	15	3541	c.3457C>T	c.(3457-3459)Ctc>Ttc	p.L1153F	CUL9_ENST00000354495.3_Missense_Mutation_p.L1043F|CUL9_ENST00000372647.2_Missense_Mutation_p.L1153F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1153	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGATGTGTTCCTCAGGCATCT	0.542																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(3457-3459)Ctc>Ttc		cullin 9							231.0	200.0	210.0					6																	43168246		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43168246C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3457C>T	6.37:g.43168246C>T	ENSP00000252050:p.Leu1153Phe					CUL9_ENST00000372647.2_Missense_Mutation_p.L1153F|CUL9_ENST00000354495.3_Missense_Mutation_p.L1043F	p.L1153F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			15	3541	+			1153			DOC.		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.3457C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932496	0.92458	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.48201	0.82;0.82;0.82	5.34	5.34	0.76211	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.125039	0.56097	D	0.000036	T	0.64338	0.2589	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68112	-0.5495	10	0.87932	D	0	-19.3504	18.6398	0.91392	0.0:1.0:0.0:0.0	.	1043;1153;1153	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	F	1153;1043;1153	ENSP00000252050:L1153F;ENSP00000346490:L1043F;ENSP00000361730:L1153F	ENSP00000252050:L1153F	L	+	1	0	CUL9	43276224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.745000	0.62125	2.510000	0.84645	0.591000	0.81541	CTC		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		18	23	0	0	0	1	0	18	23				
KIAA1147	57189	broad.mit.edu	37	7	141385376	141385376	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141385376G>A	ENST00000536163.1	-	3	428	c.429C>T	c.(427-429)agC>agT	p.S143S	KIAA1147_ENST00000482493.1_Silent_p.S52S	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	143										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTTCCAGCTCGCTCTCCACGG	0.557																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(427-429)agC>agT		KIAA1147							96.0	100.0	98.0					7																	141385376		2094	4210	6304	SO:0001819	synonymous_variant	57189							g.chr7:141385376G>A	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.429C>T	7.37:g.141385376G>A						KIAA1147_ENST00000482493.1_Silent_p.S52S	p.S143S	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN			3	428	-	Melanoma(164;0.0171)		143					Q9ULS3	Silent	SNP	ENST00000536163.1	37	c.429C>T	CCDS47726.1																																																																																				0.557	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			42	34	0	0	0	1	0	42	34				
INTS7	25896	broad.mit.edu	37	1	212141864	212141864	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212141864G>T	ENST00000366994.3	-	14	2105	c.2001C>A	c.(1999-2001)atC>atA	p.I667I	INTS7_ENST00000366993.3_Silent_p.I667I|INTS7_ENST00000366992.3_Silent_p.I667I|INTS7_ENST00000440600.2_Silent_p.I618I|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	667					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCTGATTGGAGATGCGACCAC	0.383																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1999-2001)atC>atA		integrator complex subunit 7							125.0	109.0	114.0					1																	212141864		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212141864G>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2001C>A	1.37:g.212141864G>T						INTS7_ENST00000366992.3_Silent_p.I667I|INTS7_ENST00000366993.3_Silent_p.I667I|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.I618I	p.I667I	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	14	2105	-			667					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.2001C>A	CCDS1501.1																																																																																				0.383	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		6	65	1	0	8.12818e-05	1	8.99451e-05	6	65				
UGT1A1	54658	broad.mit.edu	37	2	234526813	234526813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526813G>T	ENST00000373450.4	+	1	523	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	157					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGATGCCTGTGGCTTAATTGT	0.438																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(460-462)Ggc>Tgc									161.0	162.0	162.0					2																	234526813		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526813G>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.460G>T	2.37:g.234526813G>T	ENSP00000362549:p.Gly154Cys						p.G154C	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	523	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.460G>T	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572648	0.45798	.	.	ENSG00000242366	ENST00000373450	T	0.65916	-0.18	3.96	3.96	0.45880	.	.	.	.	.	T	0.81536	0.4843	M	0.87180	2.865	0.44652	D	0.997639	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86023	0.1508	9	0.87932	D	0	.	16.6114	0.84884	0.0:0.0:1.0:0.0	.	154;154	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	C	154	ENSP00000362549:G154C	ENSP00000362549:G154C	G	+	1	0	UGT1A8	234191552	1.000000	0.71417	0.991000	0.47740	0.254000	0.26022	6.109000	0.71528	2.226000	0.72624	0.505000	0.49811	GGC		0.438	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			71	102	1	0	4.98926e-31	1	6.69004e-31	71	102				
ZC3H7A	29066	broad.mit.edu	37	16	11846564	11846564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11846564T>C	ENST00000396516.2	-	21	2884	c.2687A>G	c.(2686-2688)cAg>cGg	p.Q896R	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.Q896R|ZC3H7A_ENST00000575984.1_Missense_Mutation_p.Q92R			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	896						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GAAGCGGTGCTGCCAGCAGTA	0.468																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(2686-2688)cAg>cGg		zinc finger CCCH-type containing 7A							147.0	116.0	126.0					16																	11846564		2197	4300	6497	SO:0001583	missense	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11846564T>C	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2687A>G	16.37:g.11846564T>C	ENSP00000379773:p.Gln896Arg					ZC3H7A_ENST00000355758.4_Missense_Mutation_p.Q896R|ZC3H7A_ENST00000575984.1_Missense_Mutation_p.Q92R	p.Q896R			Q8IWR0	Z3H7A_HUMAN			21	2884	-			896					D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	c.2687A>G	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.904715	0.72868	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09817	2.94;2.94	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	L	0.59436	1.845	0.80722	D	1	P	0.47910	0.902	P	0.44732	0.459	T	0.02417	-1.1162	10	0.29301	T	0.29	.	15.165	0.72818	0.0:0.0:0.0:1.0	.	896	Q8IWR0	Z3H7A_HUMAN	R	896	ENSP00000347999:Q896R;ENSP00000379773:Q896R	ENSP00000347999:Q896R	Q	-	2	0	ZC3H7A	11754065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.171000	0.68590	0.482000	0.46254	CAG		0.468	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		30	41	0	0	0	1	0	30	41				
CD163	9332	broad.mit.edu	37	12	7653811	7653811	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7653811A>C	ENST00000359156.4	-	3	583	c.381T>G	c.(379-381)ctT>ctG	p.L127L	CD163_ENST00000396620.3_Silent_p.L127L|CD163_ENST00000432237.2_Silent_p.L127L|CD163_ENST00000541972.1_Silent_p.L115L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	127	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGCAATCCCAAAGAGCTGACT	0.478																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(379-381)ctT>ctG		CD163 molecule							186.0	185.0	185.0					12																	7653811		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7653811A>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.381T>G	12.37:g.7653811A>C						CD163_ENST00000432237.2_Silent_p.L127L|CD163_ENST00000396620.3_Silent_p.L127L|CD163_ENST00000541972.1_Silent_p.L115L	p.L127L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			3	583	-			127			SRCR 1.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.381T>G	CCDS8578.1																																																																																				0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		26	162	0	0	0	1	0	26	162				
C9orf84	158401	broad.mit.edu	37	9	114454223	114454223	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114454223G>T	ENST00000318737.4	-	25	3970	c.3842C>A	c.(3841-3843)cCt>cAt	p.P1281H	C9orf84_ENST00000394779.3_Missense_Mutation_p.P1242H|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1207H|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1281H	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1281										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAAAGATAGGGTCCGATAC	0.383																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3724-3726)cCt>cAt		chromosome 9 open reading frame 84							64.0	62.0	62.0					9																	114454223		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454223G>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3842C>A	9.37:g.114454223G>T	ENSP00000322108:p.Pro1281His					C9orf84_ENST00000318737.4_Missense_Mutation_p.P1281H|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1207H|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1281H	p.P1242H	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	3969	-			1281					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3725C>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	8.482	0.860117	0.17178	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.15952	2.38;2.48;2.41;2.41	4.18	3.27	0.37495	.	0.145674	0.32081	N	0.006613	T	0.25606	0.0623	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.976;0.986	T	0.01930	-1.1245	10	0.72032	D	0.01	-2.9518	8.3832	0.32483	0.1105:0.0:0.8895:0.0	.	1207;1281;1242	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	H	1242;1207;895;1281;1281	ENSP00000378259:P1242H;ENSP00000378257:P1207H;ENSP00000363405:P1281H;ENSP00000322108:P1281H	ENSP00000322108:P1281H	P	-	2	0	C9orf84	113494044	0.683000	0.27633	0.025000	0.17156	0.200000	0.23975	2.848000	0.48278	1.071000	0.40834	0.467000	0.42956	CCT		0.383	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		4	48	1	0	2.56e-06	1	2.9446e-06	4	48				
MLLT4	4301	broad.mit.edu	37	6	168352062	168352062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352062C>T	ENST00000447894.2	+	29	4007	c.4007C>T	c.(4006-4008)aCc>aTc	p.T1336I	MLLT4_ENST00000366806.2_Missense_Mutation_p.T1336I|MLLT4_ENST00000392108.3_Missense_Mutation_p.T1336I|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1319I|MLLT4_ENST00000344191.4_Missense_Mutation_p.T1336I|MLLT4_ENST00000351017.4_Missense_Mutation_p.T1343I|MLLT4_ENST00000400822.3_Missense_Mutation_p.T1335I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1336					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCACACTGACCAAAAGTGGC	0.587			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4006-4008)aCc>aTc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							78.0	91.0	86.0					6																	168352062		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352062C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4007C>T	6.37:g.168352062C>T	ENSP00000404595:p.Thr1336Ile					MLLT4_ENST00000400822.3_Missense_Mutation_p.T1335I|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1319I|MLLT4_ENST00000344191.4_Missense_Mutation_p.T1336I|MLLT4_ENST00000351017.4_Missense_Mutation_p.T1343I|MLLT4_ENST00000392108.3_Missense_Mutation_p.T1336I|MLLT4_ENST00000447894.2_Missense_Mutation_p.T1336I	p.T1336I			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4149	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1336					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4007C>T		.	.	.	.	.	.	.	.	.	.	C	19.13	3.768339	0.69878	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04706	3.79;3.68;3.78;3.78;3.57;3.68;3.68	5.58	5.58	0.84498	.	0.191591	0.47093	D	0.000252	T	0.08758	0.0217	M	0.63428	1.95	0.44807	D	0.997811	D;D;D;D	0.59357	0.974;0.985;0.984;0.967	P;P;P;P	0.56916	0.649;0.809;0.791;0.664	T	0.09640	-1.0665	10	0.37606	T	0.19	-4.3257	15.1097	0.72346	0.0:0.859:0.141:0.0	.	1336;1335;1336;1320	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	I	1336;1343;1336;1336;1319;1336;1335;1336	ENSP00000341118:T1336I;ENSP00000252692:T1343I;ENSP00000375956:T1336I;ENSP00000355771:T1336I;ENSP00000375960:T1319I;ENSP00000383623:T1335I;ENSP00000404595:T1336I	ENSP00000345834:T1336I	T	+	2	0	MLLT4	168094911	1.000000	0.71417	0.971000	0.41717	0.502000	0.33828	4.026000	0.57232	2.621000	0.88768	0.650000	0.86243	ACC		0.587	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		39	86	0	0	0	1	0	39	86				
PMS2	5395	broad.mit.edu	37	7	6042121	6042121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6042121G>A	ENST00000265849.7	-	5	605	c.500C>T	c.(499-501)cCt>cTt	p.P167L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.P61L|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000406569.3_Missense_Mutation_p.P167L|PMS2_ENST00000382321.4_Missense_Mutation_p.P167L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	167					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATGGCGCACAGGTAGTGTGGA	0.423			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(499-501)cCt>cTt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							68.0	78.0	75.0					7																	6042121		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6042121G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.500C>T	7.37:g.6042121G>A	ENSP00000265849:p.Pro167Leu					PMS2_ENST00000406569.3_Missense_Mutation_p.P167L|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.P61L|PMS2_ENST00000382321.4_Missense_Mutation_p.P167L	p.P167L	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	5	605	-		Ovarian(82;0.0694)	167					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.500C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940337	0.92526	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476;ENST00000406569	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.4	5.4	0.78164	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.92;0.983;1.0	D	0.94161	0.7414	10	0.87932	D	0	-12.7137	19.1906	0.93664	0.0:0.0:1.0:0.0	.	167;167;167;61	P54278-3;P54278-2;P54278;C9J167	.;.;PMS2_HUMAN;.	L	167;120;167;61;167	ENSP00000265849:P167L;ENSP00000371758:P167L;ENSP00000392843:P61L;ENSP00000384308:P167L	ENSP00000265849:P167L	P	-	2	0	PMS2	6008647	1.000000	0.71417	0.991000	0.47740	0.833000	0.47200	9.383000	0.97214	2.541000	0.85698	0.557000	0.71058	CCT		0.423	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		63	68	0	0	0	1	0	63	68				
NUP153	9972	broad.mit.edu	37	6	17629558	17629558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629558C>A	ENST00000262077.2	-	18	2871	c.2872G>T	c.(2872-2874)Gat>Tat	p.D958Y	NUP153_ENST00000537253.1_Missense_Mutation_p.D989Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	958					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AATTTAAAATCTCCTATTGGT	0.333																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(2872-2874)Gat>Tat		nucleoporin 153kDa							50.0	56.0	54.0					6																	17629558		2191	4297	6488	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629558C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2872G>T	6.37:g.17629558C>A	ENSP00000262077:p.Asp958Tyr					NUP153_ENST00000537253.1_Missense_Mutation_p.D989Y	p.D958Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	2871	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	958					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.2872G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896960	0.52121	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07444	3.2;3.19	6.17	3.48	0.39840	.	0.228748	0.30210	N	0.010142	T	0.11623	0.0283	M	0.62723	1.935	0.36267	D	0.854952	D;D;D	0.62365	0.991;0.964;0.964	D;B;P	0.64144	0.922;0.445;0.646	T	0.01858	-1.1259	10	0.59425	D	0.04	-2.7597	9.4631	0.38796	0.0:0.7046:0.0:0.2954	.	989;938;958	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Y	958;938;989	ENSP00000262077:D958Y;ENSP00000444029:D989Y	ENSP00000262077:D958Y	D	-	1	0	NUP153	17737537	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.589000	0.36644	0.494000	0.27859	0.655000	0.94253	GAT		0.333	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			6	77	1	0	0.00116845	1	0.00124821	6	77				
DOCK3	1795	broad.mit.edu	37	3	51264830	51264830	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51264830C>T	ENST00000266037.9	+	16	1517	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	498	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCCATTGACCGGTTCCGGG	0.483																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1492-1494)gaC>gaT		dedicator of cytokinesis 3							103.0	100.0	101.0					3																	51264830		1837	4083	5920	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51264830C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1494C>T	3.37:g.51264830C>T							p.D498D	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	16	1517	+			498			DHR-1.		O15017	Silent	SNP	ENST00000266037.9	37	c.1494C>T	CCDS46835.1																																																																																				0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		30	49	0	0	0	1	0	30	49				
PNPLA4	8228	broad.mit.edu	37	X	7868854	7868854	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7868854G>T	ENST00000381042.4	-	7	805	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	PNPLA4_ENST00000444736.1_Missense_Mutation_p.S212Y|PNPLA4_ENST00000537427.1_Missense_Mutation_p.S125Y	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	212					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTTTGCCAGGGACAACTAGAA	0.358																																						ENST00000381042.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(634-636)tCc>tAc		patatin-like phospholipase domain containing 4							49.0	44.0	46.0					X																	7868854		2203	4299	6502	SO:0001583	missense	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7868854G>T	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.635C>A	X.37:g.7868854G>T	ENSP00000370430:p.Ser212Tyr					PNPLA4_ENST00000537427.1_Missense_Mutation_p.S125Y|PNPLA4_ENST00000444736.1_Missense_Mutation_p.S212Y	p.S212Y	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN			7	805	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	212					A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	c.635C>A	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669010	0.47677	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.78816	-1.21;-1.21;-1.21	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000001	D	0.88373	0.6419	M	0.88640	2.97	0.52099	D	0.999949	D	0.89917	1.0	D	0.70935	0.971	D	0.90078	0.4168	10	0.72032	D	0.01	-26.7006	11.7297	0.51730	0.0:0.0:1.0:0.0	.	212	P41247	PLPL4_HUMAN	Y	212;212;125	ENSP00000370430:S212Y;ENSP00000415245:S212Y;ENSP00000443157:S125Y	ENSP00000370430:S212Y	S	-	2	0	PNPLA4	7828854	1.000000	0.71417	0.241000	0.24154	0.502000	0.33828	5.780000	0.68956	1.802000	0.52723	0.594000	0.82650	TCC		0.358	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		16	27	1	0	6.49762e-13	1	8.19883e-13	16	27				
LDHB	3945	broad.mit.edu	37	12	21790067	21790067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21790067C>T	ENST00000396076.1	-	7	1107	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LDHB_ENST00000350669.1_Missense_Mutation_p.D259N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	259					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						TCAATAAGATCAGCCACACTT	0.343																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(775-777)Gat>Aat		lactate dehydrogenase B	NADH(DB00157)						109.0	111.0	111.0					12																	21790067		2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21790067C>T		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.775G>A	12.37:g.21790067C>T	ENSP00000379386:p.Asp259Asn					LDHB_ENST00000350669.1_Missense_Mutation_p.D259N	p.D259N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			7	1107	-			259						Missense_Mutation	SNP	ENST00000396076.1	37	c.775G>A	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411413	0.83340	.	.	ENSG00000111716	ENST00000396076;ENST00000350669	T;T	0.68331	-0.32;-0.32	4.68	4.68	0.58851	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.135076	0.64402	D	0.000003	T	0.74122	0.3675	M	0.76002	2.32	0.80722	D	1	B	0.29590	0.25	B	0.40636	0.335	T	0.74785	-0.3547	10	0.45353	T	0.12	.	17.8612	0.88781	0.0:1.0:0.0:0.0	.	259	P07195	LDHB_HUMAN	N	259	ENSP00000379386:D259N;ENSP00000229319:D259N	ENSP00000229319:D259N	D	-	1	0	LDHB	21681334	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.912000	0.69948	2.459000	0.83118	0.485000	0.47835	GAT		0.343	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		44	63	0	0	0	1	0	44	63				
ZNF821	55565	broad.mit.edu	37	16	71898054	71898054	+	Missense_Mutation	SNP	G	G	A	rs372942106		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71898054G>A	ENST00000565601.1	-	5	811	c.404C>T	c.(403-405)gCt>gTt	p.A135V	ZNF821_ENST00000564943.1_5'UTR|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000446827.2_Missense_Mutation_p.A93V|ZNF821_ENST00000425432.1_Missense_Mutation_p.A135V|ZNF821_ENST00000313565.6_Missense_Mutation_p.A93V|ZNF821_ENST00000564134.1_Missense_Mutation_p.A134V	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GTACACGTGAGCAATCAACTG	0.552																																						ENST00000425432.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						c.(403-405)gCt>gTt		zinc finger protein 821		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	90.0	91.0	91.0		404,404,278,404,278	5.6	1.0	16		91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ZNF821	NM_001201552.1,NM_001201553.1,NM_001201554.1,NM_001201556.1,NM_017530.2	64,64,64,64,64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	135/413,135/413,93/371,135/140,93/371	71898054	1,12995	2198	4300	6498	SO:0001583	missense	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71898054G>A	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.404C>T	16.37:g.71898054G>A	ENSP00000455648:p.Ala135Val					ZNF821_ENST00000565601.1_Missense_Mutation_p.A135V|ZNF821_ENST00000446827.2_Missense_Mutation_p.A93V|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000564134.1_Missense_Mutation_p.A134V|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Missense_Mutation_p.A93V|RP11-498D10.4_ENST00000569119.1_Intron	p.A135V	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN			6	783	-			135					A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	c.404C>T	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604810	0.66445	0.0	1.16E-4	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.15372	2.43;2.43;2.43	5.59	5.59	0.84812	.	0.115977	0.64402	D	0.000012	T	0.12305	0.0299	N	0.19112	0.55	0.47511	D	0.999445	B;B	0.32829	0.267;0.386	B;B	0.28139	0.058;0.086	T	0.09207	-1.0685	10	0.40728	T	0.16	-6.7427	15.9051	0.79423	0.0:0.1353:0.8647:0.0	.	135;93	B4DKK4;O75541-2	.;.	V	135;93;93	ENSP00000398089:A135V;ENSP00000313822:A93V;ENSP00000405908:A93V	ENSP00000313822:A93V	A	-	2	0	ZNF821	70455555	1.000000	0.71417	0.995000	0.50966	0.712000	0.41017	5.454000	0.66651	2.638000	0.89438	0.650000	0.86243	GCT		0.552	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		44	71	0	0	0	1	0	44	71				
DCHS2	54798	broad.mit.edu	37	4	155219800	155219800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219800C>T	ENST00000357232.4	-	18	4300	c.4301G>A	c.(4300-4302)cGt>cAt	p.R1434H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1434	Cadherin 12. {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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4300-4302)cGt>cAt		dachsous cadherin-related 2							88.0	92.0	90.0					4																	155219800		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219800C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4301G>A	4.37:g.155219800C>T	ENSP00000349768:p.Arg1434His						p.R1434H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4300	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1434			Cadherin 12.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4301G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340724	0.41498	.	.	ENSG00000197410	ENST00000357232	T	0.53857	0.6	5.86	1.22	0.21188	Cadherin (4);Cadherin-like (1);	0.246394	0.35320	N	0.003287	T	0.45677	0.1354	M	0.72479	2.2	0.09310	N	1	B	0.29886	0.26	B	0.24974	0.057	T	0.39313	-0.9620	10	0.52906	T	0.07	.	7.2804	0.26308	0.0:0.5906:0.1051:0.3043	.	1434	Q6V1P9	PCD23_HUMAN	H	1434	ENSP00000349768:R1434H	ENSP00000349768:R1434H	R	-	2	0	DCHS2	155439250	0.041000	0.20044	0.042000	0.18584	0.999000	0.98932	0.617000	0.24359	-0.028000	0.13850	0.650000	0.86243	CGT		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		5	61	0	0	0	1	0	5	61				
COPS6	10980	broad.mit.edu	37	7	99688570	99688570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99688570G>T	ENST00000303904.3	+	6	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	COPS6_ENST00000418625.1_Nonsense_Mutation_p.E177*|MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	178					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AATCAATGGAGAGGTAATACC	0.478																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(532-534)Gag>Tag		COP9 signalosome subunit 6							193.0	170.0	178.0					7																	99688570		2203	4300	6503	SO:0001587	stop_gained	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688570G>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.532G>T	7.37:g.99688570G>T	ENSP00000304102:p.Glu178*					COPS6_ENST00000418625.1_Nonsense_Mutation_p.E177*	p.E178*	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	569	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		178					A4D2A3|O15387	Nonsense_Mutation	SNP	ENST00000303904.3	37	c.532G>T	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775802	0.49786	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-8.4622	15.3999	0.74830	0.0:0.0:1.0:0.0	.	.	.	.	X	178;177	.	ENSP00000304102:E178X	E	+	1	0	COPS6	99526506	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	8.030000	0.88816	2.484000	0.83849	0.655000	0.94253	GAG		0.478	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		31	102	1	0	9.80977e-26	1	1.30521e-25	31	102				
CUL9	23113	broad.mit.edu	37	6	43181530	43181530	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43181530C>T	ENST00000252050.4	+	29	5652	c.5568C>T	c.(5566-5568)aaC>aaT	p.N1856N	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.N1746N|CUL9_ENST00000372647.2_Intron|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1856				Missing (in Ref. 3; CAH18696). {ECO:0000305}.	microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATACCTGAACGTAGAGAAGG	0.587																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5566-5568)aaC>aaT		cullin 9							77.0	79.0	78.0					6																	43181530		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43181530C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5568C>T	6.37:g.43181530C>T						CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Silent_p.N1746N	p.N1856N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			29	5652	+			1856	Missing (in Ref. 3; CAH18696).				O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.5568C>T	CCDS4890.1																																																																																				0.587	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		24	34	0	0	0	1	0	24	34				
KCNN1	3780	broad.mit.edu	37	19	18092792	18092792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18092792G>A	ENST00000222249.9	+	5	1092	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	258					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	GCCTCGAGCCGCAGCATCGGG	0.602																																						ENST00000601725.1																			0																				44.0	35.0	38.0					19																	18092792		2203	4300	6503	SO:0001583	missense	0							g.chr19:18092792G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.773G>A	19.37:g.18092792G>A	ENSP00000476519:p.Arg258His													0	408	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	G	27.5	4.835569	0.91117	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.86651	2.83	0.54753	D	0.999988	D	0.89917	1.0	D	0.66084	0.941	D	0.84701	0.0728	9	0.87932	D	0	-26.4908	15.091	0.72195	0.0:0.0:1.0:0.0	.	258	Q92952	KCNN1_HUMAN	H	275;258	.	ENSP00000222249:R275H	R	+	2	0	KCNN1	17953792	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	7.757000	0.85209	2.156000	0.67533	0.462000	0.41574	CGC		0.602	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		5	5	0	0	0	1	0	5	5				
C8orf86	389649	broad.mit.edu	37	8	38385970	38385970	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38385970C>A	ENST00000358138.1	-	1	210	c.186G>T	c.(184-186)gaG>gaT	p.E62D	C8orf86_ENST00000437935.2_Missense_Mutation_p.E62D	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	62										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TTCTTTGTCTCTCTGTTCGCT	0.557																																						ENST00000358138.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(184-186)gaG>gaT		chromosome 8 open reading frame 86							224.0	181.0	196.0					8																	38385970		2203	4300	6503	SO:0001583	missense	389649							g.chr8:38385970C>A	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.186G>T	8.37:g.38385970C>A	ENSP00000350856:p.Glu62Asp					C8orf86_ENST00000437935.2_Missense_Mutation_p.E62D	p.E62D	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN			1	210	-			62					A4QPB7	Missense_Mutation	SNP	ENST00000358138.1	37	c.186G>T	CCDS6108.1	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163657	0.21538	.	.	ENSG00000196166	ENST00000358138;ENST00000437935	T;T	0.55052	0.59;0.54	4.45	-4.04	0.04010	.	.	.	.	.	T	0.39708	0.1088	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.57425	0.82	T	0.37820	-0.9689	9	0.87932	D	0	.	5.3934	0.16257	0.0:0.3763:0.3134:0.3103	.	62	Q6ZUL3	CH086_HUMAN	D	62	ENSP00000350856:E62D;ENSP00000389615:E62D	ENSP00000350856:E62D	E	-	3	2	C8orf86	38505127	0.999000	0.42202	0.025000	0.17156	0.134000	0.20937	0.522000	0.22909	-0.586000	0.05898	-1.152000	0.01820	GAG		0.557	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		4	86	1	0	1	1	1	4	86				
ZHX3	23051	broad.mit.edu	37	20	39830786	39830786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39830786G>A	ENST00000309060.3	-	4	3186	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	ZHX3_ENST00000432768.2_Missense_Mutation_p.S924F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.S924F|ZHX3_ENST00000540170.1_Missense_Mutation_p.S924F|ZHX3_ENST00000560361.1_Missense_Mutation_p.S924F			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	924					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACTGTTCTCAGACACCTCTGA	0.602																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2770-2772)tCt>tTt		zinc fingers and homeoboxes 3							120.0	111.0	114.0					20																	39830786		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830786G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2771C>T	20.37:g.39830786G>A	ENSP00000312222:p.Ser924Phe					ZHX3_ENST00000559234.1_Missense_Mutation_p.S924F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.S924F|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.S924F|ZHX3_ENST00000560361.1_Missense_Mutation_p.S924F	p.S924F			Q9H4I2	ZHX3_HUMAN			4	3186	-		Myeloproliferative disorder(115;0.00425)	924					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2771C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050153	0.55218	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262	T;T	0.18810	2.19;2.19	6.02	6.02	0.97574	.	0.290510	0.33127	N	0.005241	T	0.25269	0.0614	L	0.32530	0.975	0.31415	N	0.675049	P;P	0.37955	0.612;0.612	B;B	0.41088	0.347;0.347	T	0.06552	-1.0820	10	0.87932	D	0	-1.0238	20.5407	0.99260	0.0:0.0:1.0:0.0	.	924;924	A8K8Q0;Q9H4I2	.;ZHX3_HUMAN	F	924;924;924;702	ENSP00000362360:S924F;ENSP00000442290:S924F	ENSP00000312222:S924F	S	-	2	0	ZHX3	39264200	0.127000	0.22367	0.716000	0.30569	0.698000	0.40448	2.862000	0.48388	2.865000	0.98341	0.655000	0.94253	TCT		0.602	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		4	116	0	0	0	1	0	4	116				
SNRPD3	6634	broad.mit.edu	37	22	24964127	24964127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24964127C>T	ENST00000215829.3	+	3	889	c.302C>T	c.(301-303)gCt>gTt	p.A101V	SNRPD3_ENST00000402849.1_Missense_Mutation_p.A101V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	101	Arg/Lys-rich (basic).				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GGAAAAGCTGCTATTCTCAAG	0.453																																						ENST00000215829.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(301-303)gCt>gTt		small nuclear ribonucleoprotein D3 polypeptide 18kDa							54.0	51.0	52.0					22																	24964127		2203	4300	6503	SO:0001583	missense	6634				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	g.chr22:24964127C>T	U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"""small nuclear ribonucleoprotein D3 polypeptide (18kD)"""			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.302C>T	22.37:g.24964127C>T	ENSP00000215829:p.Ala101Val					SNRPD3_ENST00000402849.1_Missense_Mutation_p.A101V	p.A101V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN			3	889	+			101			Arg/Lys-rich (basic).		B4DJP7|B5BU13|P43331	Missense_Mutation	SNP	ENST00000215829.3	37	c.302C>T	CCDS13828.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462790	0.63513	.	.	ENSG00000100028	ENST00000215829;ENST00000402849	T	0.44881	0.91	6.08	6.08	0.98989	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	L	0.33189	0.99	0.58432	D	0.999999	B;B	0.24426	0.103;0.021	B;B	0.22753	0.041;0.028	T	0.05099	-1.0906	10	0.30078	T	0.28	.	17.8207	0.88649	0.0:1.0:0.0:0.0	.	101;101	B4DJP7;P62318	.;SMD3_HUMAN	V	101	ENSP00000215829:A101V	ENSP00000385994:A101V	A	+	2	0	SNRPD3	23294127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.266000	0.78452	2.890000	0.99128	0.655000	0.94253	GCT		0.453	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319813.1	NM_004175		9	50	0	0	0	1	0	9	50				
COL4A2	1284	broad.mit.edu	37	13	111134925	111134925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111134925G>A	ENST00000360467.5	+	32	3127	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	941	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGAGACCCGGGTTTCCAGG	0.517																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2821-2823)Ggg>Agg		collagen, type IV, alpha 2							138.0	140.0	140.0					13																	111134925		1868	4095	5963	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111134925G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2821G>A	13.37:g.111134925G>A	ENSP00000353654:p.Gly941Arg						p.G941R	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		32	3127	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	941			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2821G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525840	0.44969	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000056	D	0.99677	0.9879	H	0.98664	4.295	0.47308	D	0.999382	D	0.89917	1.0	D	0.91635	0.999	D	0.97312	0.9938	10	0.87932	D	0	.	15.5428	0.76070	0.0:0.0:1.0:0.0	.	941	P08572	CO4A2_HUMAN	R	941	ENSP00000353654:G941R	ENSP00000257309:G941R	G	+	1	0	COL4A2	109932926	1.000000	0.71417	0.067000	0.19924	0.021000	0.10359	6.026000	0.70873	2.398000	0.81561	0.655000	0.94253	GGG		0.517	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		39	68	0	0	0	1	0	39	68				
FASTKD5	60493	broad.mit.edu	37	20	3129661	3129661	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3129661G>T	ENST00000380266.3	-	2	377	c.56C>A	c.(55-57)cCt>cAt	p.P19H	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	19					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAAGGCAGAAGGACTGCAAAA	0.478																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(55-57)cCt>cAt		FAST kinase domains 5							105.0	99.0	101.0					20																	3129661		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129661G>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.56C>A	20.37:g.3129661G>T	ENSP00000369618:p.Pro19His					UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	p.P19H	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	377	-			19					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.56C>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183317	0.78677	.	.	ENSG00000215251	ENST00000380266	T	0.37058	1.22	5.08	5.08	0.68730	.	1.684470	0.03797	N	0.263874	T	0.56558	0.1993	L	0.32530	0.975	0.31422	N	0.674139	D	0.76494	0.999	D	0.65573	0.936	T	0.59188	-0.7501	10	0.87932	D	0	.	18.6514	0.91431	0.0:0.0:1.0:0.0	.	19	Q7L8L6	FAKD5_HUMAN	H	19	ENSP00000369618:P19H	ENSP00000369618:P19H	P	-	2	0	FASTKD5	3077661	1.000000	0.71417	0.285000	0.24819	0.049000	0.14656	5.069000	0.64370	2.626000	0.88956	0.462000	0.41574	CCT		0.478	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		6	74	1	0	0.0215528	1	0.0221649	6	74				
LRRC4B	94030	broad.mit.edu	37	19	51022065	51022065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022065C>T	ENST00000599957.1	-	3	1102	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R302H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	302					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGCTCGAGGCGGTGCAGGGG	0.637																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(904-906)cGc>cAc		leucine rich repeat containing 4B							85.0	100.0	95.0					19																	51022065		2170	4260	6430	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022065C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.905G>A	19.37:g.51022065C>T	ENSP00000471502:p.Arg302His					LRRC4B_ENST00000389201.3_Missense_Mutation_p.R302H	p.R302H			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1102	-		all_neural(266;0.131)	302					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.905G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782705	0.16189	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.57595	0.39	3.7	3.7	0.42460	.	0.152919	0.44902	U	0.000417	T	0.31199	0.0789	N	0.11845	0.185	0.34054	D	0.656478	B	0.23128	0.08	B	0.12156	0.007	T	0.35574	-0.9783	10	0.15499	T	0.54	.	13.3505	0.60599	0.0:1.0:0.0:0.0	.	302	Q9NT99	LRC4B_HUMAN	H	302	ENSP00000373853:R302H	ENSP00000373853:R302H	R	-	2	0	LRRC4B	55713877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.104000	0.50306	2.084000	0.62774	0.561000	0.74099	CGC		0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		36	50	0	0	0	1	0	36	50				
SPATA18	132671	broad.mit.edu	37	4	52927056	52927056	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52927056C>T	ENST00000295213.4	+	3	676	c.302C>T	c.(301-303)tCt>tTt	p.S101F	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.S101F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	101					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGGTCCCCTCTCTGCAGGTA	0.463																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(301-303)tCt>tTt		spermatogenesis associated 18							113.0	92.0	99.0					4																	52927056		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52927056C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.302C>T	4.37:g.52927056C>T	ENSP00000295213:p.Ser101Phe					SPATA18_ENST00000419395.2_Missense_Mutation_p.S101F|SPATA18_ENST00000506829.1_Intron	p.S101F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	676	+			101					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.302C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376170	0.24857	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.24151	1.87;3.93	4.85	2.13	0.27403	.	0.436386	0.24150	N	0.041096	T	0.29749	0.0743	L	0.57536	1.79	0.18873	N	0.999986	B;B;D	0.59767	0.002;0.002;0.986	B;B;P	0.54100	0.005;0.005;0.742	T	0.08046	-1.0741	10	0.25751	T	0.34	-6.6912	4.5589	0.12151	0.0:0.6199:0.1839:0.1962	.	101;101;101	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	F	101	ENSP00000295213:S101F;ENSP00000415309:S101F	ENSP00000295213:S101F	S	+	2	0	SPATA18	52621813	0.000000	0.05858	0.842000	0.33263	0.425000	0.31504	0.412000	0.21131	0.729000	0.32403	-0.355000	0.07637	TCT		0.463	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		14	25	0	0	0	1	0	14	25				
FRMD6	122786	broad.mit.edu	37	14	52188794	52188794	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188794C>A	ENST00000344768.5	+	12	1684	c.1488C>A	c.(1486-1488)caC>caA	p.H496Q	RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000356218.4_Missense_Mutation_p.H488Q|FRMD6_ENST00000395718.2_Missense_Mutation_p.H488Q|FRMD6_ENST00000554167.1_Missense_Mutation_p.H419Q|FRMD6_ENST00000553556.1_Missense_Mutation_p.H138Q			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	496					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGAATGGACACTCTGGTGAGC	0.507																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1462-1464)caC>caA		FERM domain containing 6							94.0	90.0	91.0					14																	52188794		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188794C>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1488C>A	14.37:g.52188794C>A	ENSP00000343899:p.His496Gln					FRMD6_ENST00000344768.5_Missense_Mutation_p.H496Q|FRMD6_ENST00000554167.1_Missense_Mutation_p.H419Q|FRMD6_ENST00000553556.1_Missense_Mutation_p.H138Q|FRMD6_ENST00000356218.4_Missense_Mutation_p.H488Q	p.H488Q	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			12	1749	+	all_epithelial(31;0.0163)|Breast(41;0.089)		496					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1464C>A	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779917	0.31502	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555703;ENST00000553556	T;T;T;T	0.76839	-1.05;-1.05;-0.83;-0.63	5.65	2.82	0.32997	.	0.109669	0.64402	D	0.000006	T	0.58963	0.2159	N	0.14661	0.345	0.38344	D	0.944159	B;B;B	0.29766	0.256;0.167;0.256	B;B;B	0.34138	0.176;0.085;0.113	T	0.51663	-0.8677	10	0.10902	T	0.67	.	9.8328	0.40952	0.0:0.7183:0.0:0.2817	.	419;496;488	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	Q	488;488;496;419;136;138	ENSP00000348550:H488Q;ENSP00000379068:H488Q;ENSP00000343899:H496Q;ENSP00000451977:H419Q	ENSP00000343899:H496Q	H	+	3	2	FRMD6	51258544	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	1.403000	0.34612	0.867000	0.35654	0.650000	0.86243	CAC		0.507	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		6	55	1	0	3.59834e-05	1	4.01776e-05	6	55				
ZNF529	57711	broad.mit.edu	37	19	37038281	37038281	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038281G>T	ENST00000591340.1	-	5	1337	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P	ZNF529_ENST00000334116.7_Silent_p.P288P	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					TGCATTCATAGGGTTTCTTAC	0.388																																						ENST00000334116.7																			0				breast(1)	1						c.(862-864)ccC>ccA		zinc finger protein 529							107.0	120.0	115.0					19																	37038281		2171	4286	6457	SO:0001819	synonymous_variant	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038281G>T	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1179C>A	19.37:g.37038281G>T						ZNF529_ENST00000591340.1_Silent_p.P393P	p.P288P	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN			6	1474	-	Esophageal squamous(110;0.198)		360					K7EKE1|Q9H731|Q9HCF7	Silent	SNP	ENST00000591340.1	37	c.864C>A	CCDS54256.1																																																																																				0.388	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		9	148	1	0	1.12685e-05	1	1.27857e-05	9	148				
GRWD1	83743	broad.mit.edu	37	19	48955977	48955977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48955977G>A	ENST00000253237.5	+	7	1269	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	346						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTTCCCCAGTGGCCACCTT	0.647																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(1036-1038)Gtg>Atg		glutamate-rich WD repeat containing 1							65.0	64.0	64.0					19																	48955977		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48955977G>A	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1036G>A	19.37:g.48955977G>A	ENSP00000253237:p.Val346Met						p.V346M	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1269	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	346					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.1036G>A	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296905	0.81025	.	.	ENSG00000105447	ENST00000253237	T	0.62105	0.05	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.86740	2.835	0.80722	D	1	D	0.55172	0.97	D	0.65573	0.936	D	0.84679	0.0716	10	0.87932	D	0	-29.2292	18.1988	0.89831	0.0:0.0:1.0:0.0	.	346	Q9BQ67	GRWD1_HUMAN	M	346	ENSP00000253237:V346M	ENSP00000253237:V346M	V	+	1	0	GRWD1	53647789	1.000000	0.71417	0.968000	0.41197	0.606000	0.37113	5.590000	0.67530	2.686000	0.91538	0.561000	0.74099	GTG		0.647	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		22	48	0	0	0	1	0	22	48				
RP1	6101	broad.mit.edu	37	8	55541245	55541245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541245G>T	ENST00000220676.1	+	4	4951	c.4803G>T	c.(4801-4803)gaG>gaT	p.E1601D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1601					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGACAGTGAGCAGCCATATA	0.393																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4801-4803)gaG>gaT		retinitis pigmentosa 1 (autosomal dominant)							66.0	65.0	65.0					8																	55541245		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541245G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4803G>T	8.37:g.55541245G>T	ENSP00000220676:p.Glu1601Asp						p.E1601D	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4951	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1601						Missense_Mutation	SNP	ENST00000220676.1	37	c.4803G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767296	0.15983	.	.	ENSG00000104237	ENST00000220676	T	0.69685	-0.42	5.74	-1.09	0.09904	.	0.387514	0.21707	N	0.070322	T	0.52789	0.1756	L	0.50333	1.59	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.45175	-0.9279	10	0.72032	D	0.01	-1.5951	4.7497	0.13054	0.4068:0.0:0.3023:0.291	.	1601	P56715	RP1_HUMAN	D	1601	ENSP00000220676:E1601D	ENSP00000220676:E1601D	E	+	3	2	RP1	55703798	0.000000	0.05858	0.001000	0.08648	0.932000	0.56968	-0.675000	0.05227	-0.592000	0.05851	-0.140000	0.14226	GAG		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		9	68	1	0	4.68919e-08	1	5.58064e-08	9	68				
GCN1L1	10985	broad.mit.edu	37	12	120567270	120567270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120567270C>A	ENST00000300648.6	-	57	7712	c.7700G>T	c.(7699-7701)aGg>aTg	p.R2567M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2567					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCACCAGCCTGATGTCGCT	0.527																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7699-7701)aGg>aTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							142.0	145.0	144.0					12																	120567270		1979	4146	6125	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120567270C>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7700G>T	12.37:g.120567270C>A	ENSP00000300648:p.Arg2567Met						p.R2567M	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			57	7712	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2567					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.7700G>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841527	0.51057	.	.	ENSG00000089154	ENST00000300648	T	0.53423	0.62	5.63	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.117466	0.56097	D	0.000029	T	0.41673	0.1169	L	0.56769	1.78	0.49130	D	0.999759	B	0.22276	0.067	B	0.24006	0.05	T	0.47886	-0.9082	10	0.87932	D	0	-25.9989	6.5069	0.22200	0.0:0.7442:0.0:0.2558	.	2567	Q92616	GCN1L_HUMAN	M	2567	ENSP00000300648:R2567M	ENSP00000300648:R2567M	R	-	2	0	GCN1L1	119051653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.918000	0.48829	2.644000	0.89710	0.655000	0.94253	AGG		0.527	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			11	151	1	0	3.07112e-06	1	3.52574e-06	11	151				
FGD1	2245	broad.mit.edu	37	X	54472773	54472773	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54472773G>A	ENST00000375135.3	-	18	3388	c.2655C>T	c.(2653-2655)gaC>gaT	p.D885D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	885	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATGCCTTCTGTCAGGCCGCT	0.642																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2653-2655)gaC>gaT		FYVE, RhoGEF and PH domain containing 1							52.0	40.0	44.0					X																	54472773		2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54472773G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2655C>T	X.37:g.54472773G>A							p.D885D	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			18	3388	-			885			PH 2.		Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.2655C>T	CCDS14359.1																																																																																				0.642	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		9	18	0	0	0	1	0	9	18				
TRIM22	10346	broad.mit.edu	37	11	5719631	5719631	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5719631G>A	ENST00000379965.3	+	4	883	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	202					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGAGAGAGCTGCAAAAGCTGG	0.488																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(604-606)ctG>ctA		tripartite motif containing 22							70.0	79.0	76.0					11																	5719631		2087	4235	6322	SO:0001819	synonymous_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5719631G>A	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.606G>A	11.37:g.5719631G>A						TRIM5_ENST00000380027.1_Intron	p.L202L	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	4	883	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	202					Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	c.606G>A	CCDS41612.1																																																																																				0.488	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		25	27	0	0	0	1	0	25	27				
EP300	2033	broad.mit.edu	37	22	41566461	41566461	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41566461T>C	ENST00000263253.7	+	27	5557	c.4338T>C	c.(4336-4338)taT>taC	p.Y1446Y	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1446	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGATGATTATATCTTCCATT	0.413			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4336-4338)taT>taC		E1A binding protein p300							147.0	130.0	136.0					22																	41566461		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566461T>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4338T>C	22.37:g.41566461T>C						RP1-85F18.6_ENST00000415054.1_RNA	p.Y1446Y	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5557	+			1446					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.4338T>C	CCDS14010.1																																																																																				0.413	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		5	98	0	0	0	1	0	5	98				
WDR75	84128	broad.mit.edu	37	2	190327287	190327287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190327287C>A	ENST00000314761.4	+	9	916	c.856C>A	c.(856-858)Ctc>Atc	p.L286I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	286						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAGGAGTTTCTCCCGCGTTT	0.423																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(856-858)Ctc>Atc		WD repeat domain 75							156.0	155.0	156.0					2																	190327287		2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190327287C>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.856C>A	2.37:g.190327287C>A	ENSP00000314193:p.Leu286Ile						p.L286I	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		9	916	+			286					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.856C>A	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083451	0.94050	.	.	ENSG00000115368	ENST00000314761	T	0.05199	3.48	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.965	T	0.00088	-1.2090	10	0.62326	D	0.03	-14.7532	19.0263	0.92934	0.0:1.0:0.0:0.0	.	286;286	A8K330;Q8IWA0	.;WDR75_HUMAN	I	286	ENSP00000314193:L286I	ENSP00000314193:L286I	L	+	1	0	WDR75	190035532	1.000000	0.71417	0.989000	0.46669	0.884000	0.51177	4.435000	0.59941	2.723000	0.93209	0.655000	0.94253	CTC		0.423	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		5	106	1	0	0.014758	1	0.0152625	5	106				
IRF9	10379	broad.mit.edu	37	14	24632221	24632221	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24632221G>A	ENST00000396864.3	+	3	514	c.227G>A	c.(226-228)gGt>gAt	p.G76D	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	76					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GACACAGGAGGTCCAGCTGTC	0.537																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(226-228)gGt>gAt		interferon regulatory factor 9							67.0	66.0	67.0					14																	24632221		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24632221G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.227G>A	14.37:g.24632221G>A	ENSP00000380073:p.Gly76Asp					IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	p.G76D	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	3	514	+			76					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.227G>A	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	2.130	-0.399364	0.04865	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.97303	-4.33;-4.22	5.08	2.94	0.34122	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.623617	0.15023	U	0.284879	T	0.78648	0.4316	N	0.00067	-2.295	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.77189	-0.2679	10	0.02654	T	1	-28.4151	4.2793	0.10824	0.5025:0.0:0.4975:0.0	.	76	Q00978	IRF9_HUMAN	D	76;6	ENSP00000380073:G76D;ENSP00000313529:G6D	ENSP00000313529:G6D	G	+	2	0	IRF9	23702061	1.000000	0.71417	0.897000	0.35233	0.511000	0.34104	3.178000	0.50879	1.122000	0.41944	0.650000	0.86243	GGT		0.537	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			16	20	0	0	0	1	0	16	20				
HCAR2	338442	broad.mit.edu	37	12	123186810	123186810	+	Missense_Mutation	SNP	C	C	T	rs199511843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123186810C>T	ENST00000328880.5	-	1	1080	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	341					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	GCCTCTGGAGCGCCTCTGGTT	0.552																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(1021-1023)Gct>Act		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						143.0	138.0	140.0					12																	123186810		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186810C>T	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.1021G>A	12.37:g.123186810C>T	ENSP00000375066:p.Ala341Thr					HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	p.A341T	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	1080	-			341					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.1021G>A	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594480	0.28445	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.61859	0.07	5.4	1.12	0.20585	.	2.446760	0.02494	U	0.089770	T	0.35682	0.0940	L	0.36672	1.1	0.09310	N	1	P	0.36483	0.555	B	0.22152	0.038	T	0.27536	-1.0071	10	0.02654	T	1	-2.2861	3.0172	0.06064	0.1696:0.4006:0.3308:0.099	.	341	Q8TDS4	HCAR2_HUMAN	T	341	ENSP00000375066:A341T	ENSP00000375066:A341T	A	-	1	0	HCAR2	121752763	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.200000	0.03029	0.686000	0.31488	0.563000	0.77884	GCT		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		49	96	0	0	0	1	0	49	96				
ZNF594	84622	broad.mit.edu	37	17	5087482	5087482	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087482G>T	ENST00000399604.4	-	1	210	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	ZNF594_ENST00000575779.1_Missense_Mutation_p.L24I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTTTGGAGTTTTTCGGAT	0.388																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(70-72)Ctc>Atc		zinc finger protein 594							73.0	69.0	71.0					17																	5087482		1850	4087	5937	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087482G>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.70C>A	17.37:g.5087482G>T	ENSP00000382513:p.Leu24Ile					ZNF594_ENST00000575779.1_Missense_Mutation_p.L24I	p.L24I			Q96JF6	ZN594_HUMAN			1	210	-			24					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.70C>A	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	0.352	-0.944051	0.02322	.	.	ENSG00000180626	ENST00000399604	T	0.11495	2.77	2.8	0.692	0.18050	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.25312	0.123	B	0.15870	0.014	T	0.44877	-0.9299	9	0.22706	T	0.39	.	6.8518	0.24018	0.2555:0.0:0.7445:0.0	.	24	Q96JF6	ZN594_HUMAN	I	24	ENSP00000382513:L24I	ENSP00000382513:L24I	L	-	1	0	ZNF594	5028206	0.000000	0.05858	0.013000	0.15412	0.036000	0.12997	-2.495000	0.00971	0.076000	0.16826	-0.463000	0.05309	CTC		0.388	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		31	58	1	0	3.99451e-17	1	5.17392e-17	31	58				
ITGB8	3696	broad.mit.edu	37	7	20403300	20403300	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20403300C>A	ENST00000222573.4	+	2	852	c.168C>A	c.(166-168)gcC>gcA	p.A56A	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	56					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CATCCTGTGCCAGGTGCCTTG	0.393																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(166-168)gcC>gcA		integrin, beta 8							69.0	63.0	65.0					7																	20403300		2203	4299	6502	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20403300C>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.168C>A	7.37:g.20403300C>A						ITGB8_ENST00000537992.1_5'UTR	p.A56A	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			2	852	+			56					A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.168C>A	CCDS5370.1																																																																																				0.393	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		3	29	1	0	0.004672	1	0.0049138	3	29				
MED1	5469	broad.mit.edu	37	17	37566109	37566109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37566109C>A	ENST00000300651.6	-	17	2588	c.2365G>T	c.(2365-2367)Gaa>Taa	p.E789*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTAGAAGCTTCTTCTGCAATG	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2365-2367)Gaa>Taa		mediator complex subunit 1							129.0	128.0	128.0					17																	37566109		2203	4300	6503	SO:0001587	stop_gained	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566109C>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2365G>T	17.37:g.37566109C>A	ENSP00000300651:p.Glu789*	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.E789*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2588	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	789			Interaction with ESR1.|Interaction with VDR.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	ENST00000300651.6	37	c.2365G>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	38	6.900146	0.97920	.	.	ENSG00000125686	ENST00000300651	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-15.0647	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	789	.	ENSP00000300651:E789X	E	-	1	0	MED1	34819635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.869000	0.69613	2.854000	0.98071	0.655000	0.94253	GAA		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		10	79	1	0	2.17888e-05	1	2.45068e-05	10	79				
FSTL4	23105	broad.mit.edu	37	5	132534815	132534815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132534815G>A	ENST00000265342.7	-	16	2750	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCACTGTGGTCCCCCCCTT	0.582																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2500-2502)aCc>aTc		follistatin-like 4							60.0	57.0	58.0					5																	132534815		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132534815G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2501C>T	5.37:g.132534815G>A	ENSP00000265342:p.Thr834Ile					CTB-49A3.2_ENST00000509051.1_RNA	p.T834I	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2750	-		all_cancers(142;0.244)	834					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2501C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877278	0.17395	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.59502	0.26	5.24	2.07	0.26955	Immunoglobulin-like (1);	0.205913	0.49305	D	0.000158	T	0.51873	0.1700	L	0.57536	1.79	0.25613	N	0.986489	B;P	0.38767	0.242;0.646	B;B	0.41666	0.101;0.363	T	0.49399	-0.8944	10	0.72032	D	0.01	-15.1562	6.4815	0.22065	0.0:0.2696:0.3857:0.3447	.	834;483	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	I	834;665	ENSP00000265342:T834I	ENSP00000265342:T834I	T	-	2	0	FSTL4	132562714	1.000000	0.71417	0.205000	0.23548	0.091000	0.18340	5.389000	0.66255	0.565000	0.29255	-0.172000	0.13284	ACC		0.582	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		12	11	0	0	0	1	0	12	11				
DUOX2	50506	broad.mit.edu	37	15	45397995	45397995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45397995C>T	ENST00000603300.1	-	18	2382	c.2180G>A	c.(2179-2181)gGc>gAc	p.G727D	DUOX2_ENST00000389039.6_Missense_Mutation_p.G727D	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	727					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACAAAGGCGCCCCGTTCCTC	0.597																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(2179-2181)gGc>gAc		dual oxidase 2							72.0	69.0	70.0					15																	45397995		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45397995C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2180G>A	15.37:g.45397995C>T	ENSP00000475084:p.Gly727Asp					DUOX2_ENST00000603300.1_Missense_Mutation_p.G727D	p.G727D			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	18	2565	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	727					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2180G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	0.839	-0.742716	0.03088	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.48	0.105	0.14535	.	0.427699	0.27052	N	0.021164	T	0.28101	0.0693	L	0.46157	1.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33624	-0.9861	9	0.07644	T	0.81	-6.8297	9.3238	0.37980	0.0:0.632:0.2366:0.1314	.	727;289	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	D	727	.	ENSP00000373691:G727D	G	-	2	0	DUOX2	43185287	0.000000	0.05858	0.001000	0.08648	0.223000	0.24884	-0.357000	0.07651	-0.232000	0.09811	0.655000	0.94253	GGC		0.597	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		26	38	0	0	0	1	0	26	38				
ATP8B4	79895	broad.mit.edu	37	15	50215583	50215583	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50215583T>G	ENST00000284509.6	-	17	1892	c.1751A>C	c.(1750-1752)cAc>cCc	p.H584P	ATP8B4_ENST00000559829.1_Missense_Mutation_p.H584P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	584						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACACTGAGGTGGTCTGACGT	0.403																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1750-1752)cAc>cCc		ATPase, class I, type 8B, member 4							75.0	67.0	70.0					15																	50215583		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50215583T>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1751A>C	15.37:g.50215583T>G	ENSP00000284509:p.His584Pro					ATP8B4_ENST00000559829.1_Missense_Mutation_p.H584P	p.H584P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	17	1892	-		all_lung(180;0.00183)	584					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1751A>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817759	0.50633	.	.	ENSG00000104043	ENST00000284509	T	0.68331	-0.32	5.07	5.07	0.68467	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.140253	0.44688	D	0.000437	T	0.79695	0.4490	H	0.94542	3.55	0.58432	D	0.999993	B	0.32604	0.377	B	0.41202	0.35	D	0.83497	0.0073	10	0.87932	D	0	.	13.0871	0.59146	0.0:0.0:0.0:1.0	.	584	Q8TF62	AT8B4_HUMAN	P	584	ENSP00000284509:H584P	ENSP00000284509:H584P	H	-	2	0	ATP8B4	48002875	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.764000	0.85297	2.049000	0.60858	0.533000	0.62120	CAC		0.403	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		16	32	0	0	0	1	0	16	32				
SCN10A	6336	broad.mit.edu	37	3	38835327	38835327	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38835327C>A	ENST00000449082.2	-	1	174	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	59					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGGTTGCAGGCTTTCAAGTCC	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(175-177)Gcc>Tcc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						140.0	147.0	145.0					3																	38835327		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835327C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.175G>T	3.37:g.38835327C>A	ENSP00000390600:p.Ala59Ser						p.A59S	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	174	-			59					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.175G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986451	0.93044	.	.	ENSG00000185313	ENST00000449082	D	0.96554	-4.05	5.05	5.05	0.67936	.	0.179999	0.48286	D	0.000188	D	0.98454	0.9485	M	0.90145	3.09	0.48185	D	0.999608	D	0.89917	1.0	D	0.80764	0.994	D	0.99437	1.0937	10	0.87932	D	0	.	18.5907	0.91210	0.0:1.0:0.0:0.0	.	59	Q9Y5Y9	SCNAA_HUMAN	S	59	ENSP00000390600:A59S	ENSP00000390600:A59S	A	-	1	0	SCN10A	38810331	0.995000	0.38212	0.998000	0.56505	0.932000	0.56968	2.594000	0.46189	2.624000	0.88883	0.563000	0.77884	GCC		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		51	66	1	0	1.35964e-18	1	1.77519e-18	51	66				
AOX1	316	broad.mit.edu	37	2	201524722	201524722	+	Missense_Mutation	SNP	C	C	T	rs540086318		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201524722C>T	ENST00000374700.2	+	29	3546	c.3305C>T	c.(3304-3306)gCc>gTc	p.A1102V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1102					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTCTAGGATGCCTGTCAAACT	0.338																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3304-3306)gCc>gTc		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						62.0	65.0	64.0					2																	201524722		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201524722C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3305C>T	2.37:g.201524722C>T	ENSP00000363832:p.Ala1102Val					AOX1_ENST00000485106.1_3'UTR	p.A1102V	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			29	3546	+			1102					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3305C>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719924	0.68844	.	.	ENSG00000138356	ENST00000374700	T	0.68903	-0.36	5.51	5.51	0.81932	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.050469	0.85682	D	0.000000	D	0.89608	0.6764	H	0.98612	4.28	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93007	0.6428	10	0.87932	D	0	-39.2346	19.614	0.95622	0.0:1.0:0.0:0.0	.	1102	Q06278	ADO_HUMAN	V	1102	ENSP00000363832:A1102V	ENSP00000363832:A1102V	A	+	2	0	AOX1	201232967	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	7.348000	0.79366	2.873000	0.98535	0.561000	0.74099	GCC		0.338	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		8	30	0	0	0	1	0	8	30				
KLHL1	57626	broad.mit.edu	37	13	70681612	70681612	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70681612A>G	ENST00000377844.4	-	1	979	c.220T>C	c.(220-222)Tcc>Ccc	p.S74P	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	74	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		gaggaagaggaggaagGCTTC	0.592																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(220-222)Tcc>Ccc		kelch-like family member 1							84.0	91.0	88.0					13																	70681612		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681612A>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.220T>C	13.37:g.70681612A>G	ENSP00000367075:p.Ser74Pro					ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	p.S74P	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	979	-		Breast(118;0.000162)	74			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.220T>C	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.652946	0.29336	.	.	ENSG00000150361	ENST00000377844	T	0.77620	-1.11	5.41	4.16	0.48862	.	1.104980	0.06856	N	0.798162	T	0.71333	0.3327	L	0.36672	1.1	0.80722	D	1	B;B	0.24675	0.109;0.105	B;B	0.20384	0.019;0.029	T	0.63129	-0.6706	10	0.87932	D	0	.	10.8735	0.46899	0.8427:0.1573:0.0:0.0	.	74;74	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	P	74	ENSP00000367075:S74P	ENSP00000367075:S74P	S	-	1	0	KLHL1	69579613	1.000000	0.71417	0.980000	0.43619	0.598000	0.36846	2.578000	0.46051	2.062000	0.61559	0.529000	0.55759	TCC		0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		18	43	0	0	0	1	0	18	43				
CPZ	8532	broad.mit.edu	37	4	8621238	8621238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8621238C>T	ENST00000360986.4	+	11	2027	c.1853C>T	c.(1852-1854)cCg>cTg	p.P618L	CPZ_ENST00000315782.6_Missense_Mutation_p.P607L|CPZ_ENST00000429646.2_Missense_Mutation_p.P226L|CPZ_ENST00000382480.2_Missense_Mutation_p.P481L	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	618					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGCCCGACCCGCTCCGGGCG	0.677																																						ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(676-678)cCg>cTg		carboxypeptidase Z																																				SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621238C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1853C>T	4.37:g.8621238C>T	ENSP00000354255:p.Pro618Leu					CPZ_ENST00000360986.4_Missense_Mutation_p.P618L|CPZ_ENST00000382480.2_Missense_Mutation_p.P481L|CPZ_ENST00000315782.6_Missense_Mutation_p.P607L	p.P226L			Q66K79	CBPZ_HUMAN			9	3470	+			618					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.677C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766676	0.31228	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.57436	0.73;2.11;0.4;1.98	4.71	2.85	0.33270	.	1.840520	0.02853	U	0.129347	T	0.41419	0.1158	L	0.57536	1.79	0.09310	N	1	P;B	0.43287	0.802;0.014	B;B	0.28305	0.088;0.002	T	0.35674	-0.9779	10	0.21540	T	0.41	-23.6419	3.9276	0.09270	0.2296:0.5498:0.0:0.2206	.	607;618	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	618;481;607;226	ENSP00000354255:P618L;ENSP00000371920:P481L;ENSP00000315074:P607L;ENSP00000403981:P226L	ENSP00000315074:P607L	P	+	2	0	CPZ	8672138	0.039000	0.19947	0.059000	0.19551	0.013000	0.08279	0.363000	0.20301	0.862000	0.35528	0.462000	0.41574	CCG		0.677	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		4	37	0	0	0	1	0	4	37				
TPX2	22974	broad.mit.edu	37	20	30365440	30365440	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30365440C>A	ENST00000300403.6	+	9	1409	c.881C>A	c.(880-882)cCt>cAt	p.P294H	TPX2_ENST00000340513.4_Splice_Site_p.P294H	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	294					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTTCATCTCCTGTAAGTTGA	0.353																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.e9+1		TPX2, microtubule-associated							101.0	85.0	90.0					20																	30365440		2203	4300	6503	SO:0001630	splice_region_variant	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30365440C>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.882+1C>A	20.37:g.30365440C>A						TPX2_ENST00000300403.6_Splice_Site_p.P294_splice	p.P294_splice			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		9	1409	+			294					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Splice_Site	SNP	ENST00000300403.6	37	c.882_splice	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473802	0.84640	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.56611	0.45	5.36	5.36	0.76844	.	0.173966	0.51477	D	0.000091	T	0.73760	0.3628	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76410	-0.2969	10	0.87932	D	0	-12.8874	18.4515	0.90705	0.0:1.0:0.0:0.0	.	294;294	Q96RR5;Q9ULW0	.;TPX2_HUMAN	H	294	ENSP00000341145:P294H	ENSP00000300403:P294H	P	+	2	0	TPX2	29829101	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.902000	0.69869	2.675000	0.91044	0.655000	0.94253	CCT		0.353	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		Missense_Mutation	22	28	1	0	5.35356e-11	1	6.64197e-11	22	28				
ACTB	60	broad.mit.edu	37	7	5568063	5568063	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5568063G>A	ENST00000331789.5	-	4	842	c.651C>T	c.(649-651)tgC>tgT	p.C217C	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	217					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGCGACGTAGCACAGCTTCT	0.592																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(649-651)tgC>tgT		actin, beta							68.0	68.0	68.0					7																	5568063		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568063G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.651C>T	7.37:g.5568063G>A							p.C217C	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	842	-		Ovarian(82;0.0606)	217					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.651C>T	CCDS5341.1																																																																																				0.592	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		59	34	0	0	0	1	0	59	34				
PCDHGA2	56113	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	331	Cadherin 3. {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)	p.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A331V(2)	large_intestine(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(991-993)gCg>gTg									149.0	153.0	152.0					5																	140719530		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719530C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.992C>T	5.37:g.140719530C>T	ENSP00000378077:p.Ala331Val					PCDHGA1_ENST00000517417.1_Intron	p.A331V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	992	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.992C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.536	0.659606	0.14645	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.595751	0.13836	U	0.359348	T	0.03220	0.0094	L	0.61218	1.895	0.09310	N	1	B;B	0.30326	0.107;0.276	B;B	0.34931	0.104;0.192	T	0.32587	-0.9901	10	0.62326	D	0.03	.	8.5125	0.33226	0.0:0.7322:0.1269:0.1409	.	331;331	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	331	ENSP00000378077:A331V	ENSP00000378077:A331V	A	+	2	0	PCDHGA2	140699714	0.000000	0.05858	0.189000	0.23252	0.058000	0.15608	-0.155000	0.10115	0.319000	0.23209	-0.878000	0.02970	GCG		0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		77	124	0	0	0	1	0	77	124				
BRDT	676	broad.mit.edu	37	1	92442855	92442855	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92442855G>A	ENST00000362005.3	+	7	1292	c.874G>A	c.(874-876)Gca>Aca	p.A292T	BRDT_ENST00000402388.1_Missense_Mutation_p.A292T|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.A292T|BRDT_ENST00000394530.3_Missense_Mutation_p.A246T|BRDT_ENST00000370389.2_Missense_Mutation_p.A219T	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	292	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTTTTCATATGCATGGCCCTT	0.343																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(655-657)Gca>Aca		bromodomain, testis-specific							76.0	76.0	76.0					1																	92442855		2203	4299	6502	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442855G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.874G>A	1.37:g.92442855G>A	ENSP00000354568:p.Ala292Thr					BRDT_ENST00000399546.2_Missense_Mutation_p.A292T|BRDT_ENST00000402388.1_Missense_Mutation_p.A292T|BRDT_ENST00000394530.3_Missense_Mutation_p.A246T|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000362005.3_Missense_Mutation_p.A292T	p.A219T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1579	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	292					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.655G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258748	0.95368	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.88	4.96	0.65561	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000005	T	0.58581	0.2132	M	0.88570	2.965	0.80722	D	1	P;P;D;P	0.89917	0.861;0.861;1.0;0.861	B;B;D;B	0.97110	0.344;0.344;1.0;0.344	T	0.69818	-0.5042	10	0.87932	D	0	-19.7695	14.7497	0.69516	0.0691:0.0:0.9309:0.0	.	246;246;296;292	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	T	292;219;292;292;246;292;292	ENSP00000354568:A292T;ENSP00000359416:A219T;ENSP00000387822:A292T;ENSP00000378038:A246T;ENSP00000404969:A292T;ENSP00000384051:A292T	ENSP00000354568:A292T	A	+	1	0	BRDT	92215443	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	7.846000	0.86887	1.481000	0.48307	0.655000	0.94253	GCA		0.343	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		59	92	0	0	0	1	0	59	92				
TFDP2	7029	broad.mit.edu	37	3	141697399	141697399	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141697399T>A	ENST00000489671.1	-	7	912	c.482A>T	c.(481-483)gAg>gTg	p.E161V	TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000467072.1_Missense_Mutation_p.E100V|TFDP2_ENST00000499676.2_Missense_Mutation_p.E100V|TFDP2_ENST00000486111.1_Missense_Mutation_p.E100V|TFDP2_ENST00000479040.1_Missense_Mutation_p.E100V|TFDP2_ENST00000310282.6_Missense_Mutation_p.E100V|TFDP2_ENST00000477292.1_Missense_Mutation_p.E25V|TFDP2_ENST00000397991.4_Missense_Mutation_p.E133V|TFDP2_ENST00000317104.7_Missense_Mutation_p.E84V|TFDP2_ENST00000495310.1_Missense_Mutation_p.E64V			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	161					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						ATTGGTGAACTCTGACACCAG	0.383																																						ENST00000499676.2																			0				kidney(1)|upper_aerodigestive_tract(2)	3						c.(298-300)gAg>gTg		transcription factor Dp-2 (E2F dimerization partner 2)							186.0	177.0	180.0					3																	141697399		1998	4192	6190	SO:0001583	missense	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141697399T>A	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.482A>T	3.37:g.141697399T>A	ENSP00000420616:p.Glu161Val					TFDP2_ENST00000467072.1_Missense_Mutation_p.E100V|TFDP2_ENST00000310282.6_Missense_Mutation_p.E100V|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000486111.1_Missense_Mutation_p.E100V|TFDP2_ENST00000397991.4_Missense_Mutation_p.E133V|TFDP2_ENST00000479040.1_Missense_Mutation_p.E100V|TFDP2_ENST00000495310.1_Missense_Mutation_p.E64V|TFDP2_ENST00000477292.1_Missense_Mutation_p.E25V|TFDP2_ENST00000489671.1_Missense_Mutation_p.E161V|TFDP2_ENST00000317104.7_Missense_Mutation_p.E84V	p.E100V	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN			7	970	-			161					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	c.299A>T	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.786714	0.90367	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	T;T;T;T;T;T;T;T;T;T;T;T	0.58210	1.35;1.33;1.35;0.35;0.39;1.35;1.31;1.35;1.37;1.33;1.03;1.08	5.52	5.52	0.82312	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.94142	3.5	0.80722	D	1	D;P;P	0.63046	0.992;0.942;0.879	D;P;P	0.70227	0.968;0.743;0.572	D	0.85941	0.1458	10	0.87932	D	0	-7.5591	15.6722	0.77286	0.0:0.0:0.0:1.0	.	64;161;100	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	V	100;161;100;25;64;100;84;100;100;133;100;74;100	ENSP00000439782:E100V;ENSP00000420616:E161V;ENSP00000420599:E100V;ENSP00000418971:E25V;ENSP00000419036:E64V;ENSP00000418590:E100V;ENSP00000315668:E84V;ENSP00000309622:E100V;ENSP00000417585:E100V;ENSP00000381078:E133V;ENSP00000417726:E100V;ENSP00000417220:E100V	ENSP00000309622:E100V	E	-	2	0	TFDP2	143180089	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.862000	0.87013	2.096000	0.63516	0.528000	0.53228	GAG		0.383	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		4	95	0	0	0	1	0	4	95				
GRAP	10750	broad.mit.edu	37	17	18925335	18925335	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18925335C>T	ENST00000284154.5	-	5	1301	c.591G>A	c.(589-591)cgG>cgA	p.R197R	GRAP_ENST00000395635.1_Silent_p.R168R|SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000573099.1_Missense_Mutation_p.G141E	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	197	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					AGGACCGGCCCCGCCACCAGT	0.672																																						ENST00000573099.1																			0				large_intestine(1)|urinary_tract(1)	2						c.(421-423)gGg>gAg		GRB2-related adaptor protein							10.0	13.0	12.0					17																	18925335		2193	4292	6485	SO:0001819	synonymous_variant	10750				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity	g.chr17:18925335C>T	U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016		"""SH2 domain containing"""	4562	protein-coding gene	gene with protein product		604330				8647802, 8995379	Standard	NM_006613		Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000284154.5:c.591G>A	17.37:g.18925335C>T						GRAP_ENST00000284154.5_Silent_p.R197R|SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000395635.1_Silent_p.R168R	p.G141E			Q13588	GRAP_HUMAN			4	492	-	all_cancers(12;0.0183)		0			SH2.			Missense_Mutation	SNP	ENST00000284154.5	37	c.422G>A	CCDS11202.1																																																																																				0.672	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132176.2	NM_006613		6	11	0	0	0	1	0	6	11				
ERBB4	2066	broad.mit.edu	37	2	212989497	212989497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212989497G>A	ENST00000342788.4	-	2	524	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ERBB4_ENST00000436443.1_Missense_Mutation_p.R72W|ERBB4_ENST00000402597.1_Missense_Mutation_p.R72W	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	72					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAGAGGTCCCGGTTGTGCTCA	0.507										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(214-216)Cgg>Tgg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							144.0	125.0	132.0					2																	212989497		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212989497G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.214C>T	2.37:g.212989497G>A	ENSP00000342235:p.Arg72Trp	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.R72W|ERBB4_ENST00000436443.1_Missense_Mutation_p.R72W	p.R72W	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	2	524	-		Renal(323;0.06)|Lung NSC(271;0.197)	72					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.214C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875023	0.72180	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.43	5.43	0.79202	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	L	0.54965	1.715	0.51012	D	0.999907	D;P;D;D	0.89917	1.0;0.679;1.0;1.0	D;B;D;D	0.91635	0.998;0.151;0.998;0.999	D	0.88407	0.3019	10	0.49607	T	0.09	.	14.9989	0.71455	0.0:0.0:0.8487:0.1513	.	72;72;72;72	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	W	72;72;72;13	ENSP00000342235:R72W;ENSP00000403204:R72W;ENSP00000385565:R72W;ENSP00000405564:R13W	ENSP00000342235:R72W	R	-	1	2	ERBB4	212697742	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.848000	0.55903	2.548000	0.85928	0.655000	0.94253	CGG		0.507	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		3	52	0	0	0	1	0	3	52				
IL15RA	3601	broad.mit.edu	37	10	6001721	6001721	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6001721G>T	ENST00000379977.3	-	5	709	c.612C>A	c.(610-612)acC>acA	p.T204T	IL15RA_ENST00000397255.3_Silent_p.T204T|IL15RA_ENST00000525219.2_Silent_p.T168T|IL15RA_ENST00000530685.1_Silent_p.T171T|IL15RA_ENST00000397250.2_Silent_p.T106T|IL15RA_ENST00000397251.3_Silent_p.T139T|IL15RA_ENST00000528354.1_Silent_p.T171T|IL15RA_ENST00000397248.2_Silent_p.T168T|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379971.1_Silent_p.T106T			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	204					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACTTACCAGTGGTGTCGCTGT	0.582																																						ENST00000525219.2																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(502-504)acC>acA		interleukin 15 receptor, alpha							127.0	88.0	101.0					10																	6001721		2203	4300	6503	SO:0001819	synonymous_variant	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:6001721G>T	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.612C>A	10.37:g.6001721G>T						IL15RA_ENST00000397251.3_Silent_p.T139T|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Silent_p.T171T|IL15RA_ENST00000397250.2_Silent_p.T106T|IL15RA_ENST00000530685.1_Silent_p.T171T|IL15RA_ENST00000379977.3_Silent_p.T204T|IL15RA_ENST00000397255.3_Silent_p.T204T|IL15RA_ENST00000379971.1_Silent_p.T106T|IL15RA_ENST00000397248.2_Silent_p.T168T	p.T168T	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN			5	798	-			204					B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Silent	SNP	ENST00000379977.3	37	c.504C>A	CCDS7074.1	.	.	.	.	.	.	.	.	.	.	G	3.183	-0.167479	0.06461	.	.	ENSG00000134470	ENST00000435171;ENST00000447291;ENST00000532039	.	.	.	3.62	-1.73	0.08081	.	.	.	.	.	T	0.29223	0.0727	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31916	-0.9926	4	.	.	.	-6.8725	7.0529	0.25083	0.0:0.3528:0.4151:0.2321	.	.	.	.	Q	80;107;109	.	.	P	-	2	0	IL15RA	6041727	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.265000	0.08644	-0.339000	0.08401	0.462000	0.41574	CCA		0.582	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		6	10	1	0	0.00198382	1	0.00210581	6	10				
KLHL11	55175	broad.mit.edu	37	17	40010060	40010060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010060G>A	ENST00000319121.3	-	2	2119	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	687										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTGCATCTGTCTGATGCGG	0.507																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(2059-2061)Cag>Tag		kelch-like family member 11							201.0	181.0	188.0					17																	40010060		2203	4300	6503	SO:0001587	stop_gained	55175					extracellular region		g.chr17:40010060G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.2059C>T	17.37:g.40010060G>A	ENSP00000314608:p.Gln687*						p.Q687*	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	2119	-		Breast(137;0.00156)	687						Nonsense_Mutation	SNP	ENST00000319121.3	37	c.2059C>T	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444801	0.96187	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	4.0509	20.1668	0.98153	0.0:0.0:1.0:0.0	.	.	.	.	X	687;550	.	ENSP00000314608:Q687X	Q	-	1	0	KLHL11	37263586	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.180000	0.94867	2.831000	0.97527	0.650000	0.86243	CAG		0.507	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		55	69	0	0	0	1	0	55	69				
B4GALNT2	124872	broad.mit.edu	37	17	47243497	47243497	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243497C>A	ENST00000300404.2	+	9	1215	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L326M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L300M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	386					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGTAGGAACCTGGCCATATC	0.463																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1156-1158)Ctg>Atg		beta-1,4-N-acetyl-galactosaminyl transferase 2							105.0	87.0	93.0					17																	47243497		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47243497C>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1156C>A	17.37:g.47243497C>A	ENSP00000300404:p.Leu386Met					B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L326M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L300M	p.L386M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1215	+			386					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1156C>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187809	0.78789	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.61510	0.1;0.1;0.1	5.8	4.64	0.57946	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000009	T	0.78413	0.4279	M	0.87456	2.885	0.44500	D	0.997445	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81858	-0.0739	10	0.72032	D	0.01	-17.8267	14.675	0.68972	0.0:0.916:0.0:0.084	.	326;386	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	M	300;326;386	ENSP00000425510:L300M;ENSP00000377022:L326M;ENSP00000300404:L386M	ENSP00000300404:L386M	L	+	1	2	B4GALNT2	44598496	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.411000	0.52672	2.732000	0.93576	0.655000	0.94253	CTG		0.463	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		18	27	1	0	1.01871e-10	1	1.25892e-10	18	27				
TP63	8626	broad.mit.edu	37	3	189587135	189587135	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189587135T>C	ENST00000264731.3	+	9	1241	c.1152T>C	c.(1150-1152)ggT>ggC	p.G384G	TP63_ENST00000392460.3_Silent_p.G384G|TP63_ENST00000320472.5_Silent_p.G384G|TP63_ENST00000440651.2_Silent_p.G380G|TP63_ENST00000392461.3_Silent_p.G290G|TP63_ENST00000449992.1_Silent_p.G205G|TP63_ENST00000392463.2_Silent_p.G290G|TP63_ENST00000456148.1_Silent_p.G286G|TP63_ENST00000382063.4_Silent_p.G299G|TP63_ENST00000418709.2_Silent_p.G384G|TP63_ENST00000437221.1_Silent_p.G290G|TP63_ENST00000354600.5_Silent_p.G290G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	384	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACACATGGTATCCAGATGA	0.383										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1150-1152)ggT>ggC		tumor protein p63							141.0	119.0	127.0					3																	189587135		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189587135T>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1152T>C	3.37:g.189587135T>C		HNSCC(45;0.13)				TP63_ENST00000354600.5_Silent_p.G290G|TP63_ENST00000392463.2_Silent_p.G290G|TP63_ENST00000449992.1_Silent_p.G205G|TP63_ENST00000456148.1_Silent_p.G286G|TP63_ENST00000320472.5_Silent_p.G384G|TP63_ENST00000392461.3_Silent_p.G290G|TP63_ENST00000437221.1_Silent_p.G290G|TP63_ENST00000418709.2_Silent_p.G384G|TP63_ENST00000382063.4_Silent_p.G299G|TP63_ENST00000392460.3_Silent_p.G384G|TP63_ENST00000440651.2_Silent_p.G380G	p.G384G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	9	1241	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		384			Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1152T>C	CCDS3293.1																																																																																				0.383	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		3	30	0	0	0	1	0	3	30				
ADCY4	196883	broad.mit.edu	37	14	24798658	24798658	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798658G>A	ENST00000310677.4	-	10	1412	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	ADCY4_ENST00000554068.2_Silent_p.D433D|ADCY4_ENST00000396747.3_Silent_p.D126D|ADCY4_ENST00000418030.2_Silent_p.D433D	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	433					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAAGGTAGGGGTCCCGATGCT	0.632																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1297-1299)gaC>gaT		adenylate cyclase 4							66.0	66.0	66.0					14																	24798658		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24798658G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1299C>T	14.37:g.24798658G>A						ADCY4_ENST00000396747.3_Silent_p.D126D|ADCY4_ENST00000554068.2_Silent_p.D433D|ADCY4_ENST00000418030.2_Silent_p.D433D	p.D433D	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	10	1412	-			433					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1299C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152727	0.21371	.	.	ENSG00000129467	ENST00000556932	.	.	.	5.13	2.31	0.28768	.	.	.	.	.	T	0.60983	0.2311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54016	-0.8356	4	.	.	.	.	11.1558	0.48486	0.2332:0.0:0.7668:0.0	.	.	.	.	I	6	.	.	T	-	2	0	ADCY4	23868498	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	1.768000	0.38511	0.072000	0.16694	-0.797000	0.03246	ACC		0.632	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			14	38	0	0	0	1	0	14	38				
BRPF1	7862	broad.mit.edu	37	3	9785586	9785586	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9785586G>A	ENST00000457855.1	+	7	2628		c.e7+1		BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000383829.2_Splice_Site			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAAGCAAAGGTCTGAATCCC	0.597																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.e8+1		bromodomain and PHD finger containing, 1							47.0	31.0	36.0					3																	9785586		2196	4292	6488	SO:0001630	splice_region_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9785586G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2617+1G>A	3.37:g.9785586G>A						BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000457855.1_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site		NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			8	3039	+	Medulloblastoma(99;0.227)							B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Splice_Site	SNP	ENST00000457855.1	37		CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522757	0.64747	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BRPF1	9760586	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	.		0.597	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	Intron	3	19	0	0	0	1	0	3	19				
PLCL1	5334	broad.mit.edu	37	2	198949212	198949212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198949212C>A	ENST00000428675.1	+	2	1369	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.S226Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	324					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTACAGATATCTAAAAACAAA	0.393																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(970-972)tCt>tAt		phospholipase C-like 1	Quinacrine(DB01103)						71.0	72.0	72.0					2																	198949212		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949212C>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.971C>A	2.37:g.198949212C>A	ENSP00000402861:p.Ser324Tyr					PLCL1_ENST00000437704.2_Missense_Mutation_p.S226Y	p.S324Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1369	+			324					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.971C>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680450	0.68042	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.52295	0.67;0.67	6.04	6.04	0.98038	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.171021	0.42420	D	0.000702	T	0.78916	0.4359	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82818	-0.0269	9	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	324;250	Q15111;B4DYZ4	PLCL1_HUMAN;.	Y	324;226	ENSP00000402861:S324Y;ENSP00000414138:S226Y	.	S	+	2	0	PLCL1	198657457	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.808000	0.86044	2.873000	0.98535	0.561000	0.74099	TCT		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		14	97	1	0	4.3838e-07	1	5.12524e-07	14	97				
TM2D3	80213	broad.mit.edu	37	15	102186949	102186949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102186949G>A	ENST00000333202.3	-	4	486	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	TM2D3_ENST00000347970.3_Missense_Mutation_p.R135W|TM2D3_ENST00000428002.2_Missense_Mutation_p.R135W|RNU6-807P_ENST00000516805.1_RNA|TM2D3_ENST00000561373.1_Missense_Mutation_p.R96W|TM2D3_ENST00000559107.1_Missense_Mutation_p.R161W	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	161						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTGGTCCCGCACCGTGCAG	0.502																																						ENST00000561373.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(286-288)Cgg>Tgg		TM2 domain containing 3							106.0	90.0	95.0					15																	102186949		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102186949G>A	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.481C>T	15.37:g.102186949G>A	ENSP00000330433:p.Arg161Trp					TM2D3_ENST00000333202.3_Missense_Mutation_p.R161W|TM2D3_ENST00000559107.1_Missense_Mutation_p.R161W|TM2D3_ENST00000347970.3_Missense_Mutation_p.R135W|TM2D3_ENST00000428002.2_Missense_Mutation_p.R135W	p.R96W			Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	842	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		161					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.286C>T	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606614	0.46527	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	.	.	.	5.72	4.79	0.61399	.	0.140844	0.46442	D	0.000293	T	0.70298	0.3208	L	0.59436	1.845	0.35692	D	0.814895	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;P;P	0.70935	0.971;0.951;0.764;0.794	T	0.76457	-0.2952	9	0.38643	T	0.18	-33.7094	13.715	0.62691	0.0:0.0:0.8448:0.1552	.	161;135;135;161	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	W	135;135;161	.	ENSP00000330433:R161W	R	-	1	2	TM2D3	100004472	0.867000	0.29959	1.000000	0.80357	0.320000	0.28249	3.706000	0.54830	1.372000	0.46190	0.585000	0.79938	CGG		0.502	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		21	37	0	0	0	1	0	21	37				
EIF2AK3	9451	broad.mit.edu	37	2	88874582	88874582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88874582C>A	ENST00000303236.3	-	13	2720	c.2419G>T	c.(2419-2421)Gta>Tta	p.V807L	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V656L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	807	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TCTTCAAATACTATTGAAGAG	0.413																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2419-2421)Gta>Tta		eukaryotic translation initiation factor 2-alpha kinase 3							144.0	148.0	146.0					2																	88874582		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874582C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2419G>T	2.37:g.88874582C>A	ENSP00000307235:p.Val807Leu					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V656L|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	p.V807L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2720	-			807			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2419G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616804	0.66672	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.75704	-0.85;-0.81;-0.96	5.99	5.99	0.97316	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83667	0.5304	L	0.50333	1.59	0.58432	D	0.999997	D	0.64830	0.994	D	0.72625	0.978	T	0.80127	-0.1512	10	0.35671	T	0.21	-21.84	20.4756	0.99175	0.0:1.0:0.0:0.0	.	807	Q9NZJ5	E2AK3_HUMAN	L	656;807;656;686	ENSP00000408325:V656L;ENSP00000307235:V807L;ENSP00000412076:V686L	ENSP00000307235:V807L	V	-	1	0	EIF2AK3	88655697	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	6.472000	0.73567	2.847000	0.97988	0.655000	0.94253	GTA		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		58	115	1	0	8.72158e-25	1	1.15801e-24	58	115				
E2F3	1871	broad.mit.edu	37	6	20487011	20487011	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:20487011C>A	ENST00000346618.3	+	5	1042	c.976C>A	c.(976-978)Ctt>Att	p.L326I	E2F3_ENST00000535432.1_Missense_Mutation_p.L195I	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	326	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGAAACAAGACTTGAAGTGCC	0.383																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(976-978)Ctt>Att		E2F transcription factor 3							81.0	71.0	75.0					6																	20487011		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20487011C>A	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.976C>A	6.37:g.20487011C>A	ENSP00000262904:p.Leu326Ile					E2F3_ENST00000535432.1_Missense_Mutation_p.L195I	p.L326I	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		5	1042	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		326			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.976C>A	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984002	0.93044	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.96300	-3.97;-3.97	5.93	5.93	0.95920	.	0.059878	0.64402	D	0.000002	D	0.97133	0.9063	M	0.69823	2.125	0.80722	D	1	P	0.51147	0.942	P	0.54924	0.764	D	0.96872	0.9640	10	0.62326	D	0.03	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	326	O00716	E2F3_HUMAN	I	326;195	ENSP00000262904:L326I;ENSP00000443418:L195I	ENSP00000262904:L326I	L	+	1	0	E2F3	20594990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.890000	0.63178	2.815000	0.96918	0.561000	0.74099	CTT		0.383	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			13	32	1	0	1.3612e-06	1	1.57881e-06	13	32				
ABL1	25	broad.mit.edu	37	9	133729608	133729608	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133729608T>G	ENST00000318560.5	+	2	618	c.237T>G	c.(235-237)acT>acG	p.T79T		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	79	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAGATAACACTCTAAGCATAA	0.473			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(235-237)acT>acG		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						101.0	100.0	100.0					9																	133729608		2203	4300	6503	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133729608T>G	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.237T>G	9.37:g.133729608T>G							p.T79T	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	2	618	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	79			SH3.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.237T>G	CCDS35166.1																																																																																				0.473	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		4	95	0	0	0	1	0	4	95				
SBF2	81846	broad.mit.edu	37	11	9875174	9875174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9875174G>A	ENST00000256190.8	-	20	2586	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	817					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTAATGAACCGCACAACAGAA	0.423																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2449-2451)Cgg>Tgg		SET binding factor 2							206.0	182.0	190.0					11																	9875174		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9875174G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2449C>T	11.37:g.9875174G>A	ENSP00000256190:p.Arg817Trp					RP11-1H15.2_ENST00000533659.1_RNA	p.R817W	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	20	2586	-			817					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2449C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958683	0.74016	.	.	ENSG00000133812	ENST00000256190	D	0.88124	-2.34	5.54	3.57	0.40892	.	0.000000	0.85682	D	0.000000	D	0.92149	0.7511	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.92463	0.5979	10	0.87932	D	0	.	14.9887	0.71368	0.0:0.0:0.7713:0.2287	.	817	Q86WG5	MTMRD_HUMAN	W	817	ENSP00000256190:R817W	ENSP00000256190:R817W	R	-	1	2	SBF2	9831750	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	2.611000	0.46334	0.725000	0.32318	0.591000	0.81541	CGG		0.423	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		59	107	0	0	0	1	0	59	107				
PRRC2A	7916	broad.mit.edu	37	6	31604861	31604861	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31604861C>A	ENST00000376033.2	+	29	6424	c.6190C>A	c.(6190-6192)Ctg>Atg	p.L2064M	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L2064M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2064	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTATCAAAAACTGAGCAGCAA	0.488																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(6190-6192)Ctg>Atg		proline-rich coiled-coil 2A							85.0	90.0	88.0					6																	31604861		1509	2709	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31604861C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6190C>A	6.37:g.31604861C>A	ENSP00000365201:p.Leu2064Met					PRRC2A_ENST00000376007.4_Missense_Mutation_p.L2064M	p.L2064M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			29	6424	+			2064			3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6190C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.220015	0.22373	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02395	4.31;4.31	6.03	2.82	0.32997	.	0.000000	0.44285	D	0.000465	T	0.01661	0.0053	N	0.08118	0	0.31190	N	0.701036	D	0.71674	0.998	D	0.80764	0.994	T	0.45963	-0.9225	10	0.87932	D	0	-8.6101	5.076	0.14632	0.1574:0.6427:0.0:0.2	.	2064	P48634	PRC2A_HUMAN	M	2056;2045;2064;2064;1289	ENSP00000365175:L2064M;ENSP00000365201:L2064M	ENSP00000365175:L2064M	L	+	1	2	PRRC2A	31712840	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.173000	0.16724	0.696000	0.31696	0.655000	0.94253	CTG		0.488	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		6	72	1	0	0.00307968	1	0.00325696	6	72				
ATP9A	10079	broad.mit.edu	37	20	50273579	50273579	+	Silent	SNP	G	G	A	rs528790406	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50273579G>A	ENST00000338821.5	-	14	1668	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	ATP9A_ENST00000311637.5_Silent_p.N332N|ATP9A_ENST00000402822.1_Silent_p.N347N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	468					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGGAGTCACGTTGTGGCAGA	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		18295	0.002		0.0	False		,,,				2504	0.0					ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1402-1404)aaC>aaT		ATPase, class II, type 9A							111.0	83.0	92.0					20																	50273579		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50273579G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1404C>T	20.37:g.50273579G>A						ATP9A_ENST00000402822.1_Silent_p.N347N|ATP9A_ENST00000311637.5_Silent_p.N332N	p.N468N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			14	1668	-			468					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.1404C>T	CCDS33489.1																																																																																				0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		3	30	0	0	0	1	0	3	30				
FCGR3A	2214	broad.mit.edu	37	1	161518450	161518450	+	Missense_Mutation	SNP	A	A	G	rs11804152		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161518450A>G	ENST00000436743.1	-	4	234	c.80T>C	c.(79-81)gTg>gCg	p.V27A	FCGR3A_ENST00000540048.1_Missense_Mutation_p.V27A|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V62A|FCGR3A_ENST00000367969.3_Missense_Mutation_p.V63A	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	27	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.567																																						ENST00000367969.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(187-189)gTg>gCg		Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						95.0	93.0	94.0					1																	161518450		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518450A>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.80T>C	1.37:g.161518450A>G	ENSP00000416607:p.Val27Ala					FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Missense_Mutation_p.V27A|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V62A|FCGR3A_ENST00000540048.1_Missense_Mutation_p.V27A	p.V63A	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	371	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		27			Ig-like C2-type 1.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.188T>C	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.83|16.83	3.231766|3.231766	0.58777|0.58777	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336|ENST00000426740	T;T;T;T;T;T|.	0.08634|.	3.07;3.07;3.07;3.07;3.07;3.07|.	4.43|4.43	2.08|2.08	0.27032|0.27032	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.126840|.	0.06794|.	N|.	0.787581|.	T|T	0.48095|0.48095	0.1481|0.1481	M|M	0.92317|0.92317	3.295|3.295	0.27613|0.27613	N|N	0.948589|0.948589	D;D;D|.	0.67145|.	0.983;0.983;0.996|.	P;P;D|.	0.66351|.	0.732;0.789;0.943|.	T|T	0.52411|0.52411	-0.8579|-0.8579	10|5	0.87932|.	D|.	0|.	.|.	3.6359|3.6359	0.08148|0.08148	0.704:0.0:0.1038:0.1922|0.704:0.0:0.1038:0.1922	.|.	27;62;27|.	P08637;E9PG94;Q9UPY7|.	FCG3A_HUMAN;.;.|.	A|R	63;62;27;27;27;26|44	ENSP00000356946:V63A;ENSP00000392047:V62A;ENSP00000416607:V27A;ENSP00000356944:V27A;ENSP00000444971:V27A;ENSP00000396567:V26A|.	ENSP00000356944:V27A|.	V|W	-|-	2|1	0|0	FCGR3A|FCGR3A	159785074|159785074	0.486000|0.486000	0.25980|0.25980	0.972000|0.972000	0.41901|0.41901	0.791000|0.791000	0.44710|0.44710	1.124000|1.124000	0.31320|0.31320	0.322000|0.322000	0.23283|0.23283	0.482000|0.482000	0.46254|0.46254	GTG|TGG		0.567	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		5	73	0	0	0	1	0	5	73				
ASUN	55726	broad.mit.edu	37	12	27070659	27070659	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27070659C>T	ENST00000261191.7	-	9	1433	c.897G>A	c.(895-897)tcG>tcA	p.S299S	ASUN_ENST00000539625.1_Silent_p.S198S	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	299					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CACCTAGATGCGAATCACCTT	0.323																																						ENST00000261191.7																			0											c.(895-897)tcG>tcA		asunder spermatogenesis regulator							107.0	99.0	101.0					12																	27070659		2203	4300	6503	SO:0001819	synonymous_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27070659C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.897G>A	12.37:g.27070659C>T						ASUN_ENST00000539625.1_Silent_p.S198S	p.S299S	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			9	1433	-			299					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	c.897G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.559595	0.00910	.	.	ENSG00000064102	ENST00000542392	.	.	.	5.02	-3.23	0.05109	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34104	-0.9842	4	.	.	.	0.0024	0.5187	0.00608	0.2229:0.2672:0.2285:0.2814	.	.	.	.	T	13	.	.	A	-	1	0	C12orf11	26961926	0.142000	0.22610	0.003000	0.11579	0.005000	0.04900	0.021000	0.13489	-0.492000	0.06687	-3.510000	0.00033	GCA		0.323	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		9	22	0	0	0	1	0	9	22				
GRID2	2895	broad.mit.edu	37	4	94693399	94693399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693399C>T	ENST00000282020.4	+	16	3032	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	GRID2_ENST00000510992.1_Missense_Mutation_p.T830I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	925	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTCAGGAACACTCATATTACC	0.458																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2773-2775)aCt>aTt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						159.0	149.0	153.0					4																	94693399		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693399C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2774C>T	4.37:g.94693399C>T	ENSP00000282020:p.Thr925Ile					GRID2_ENST00000510992.1_Missense_Mutation_p.T830I	p.T925I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3032	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	925			Interaction with AP4M1 (By similarity).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2774C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238117	0.79800	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15952	2.42;2.38	5.42	5.42	0.78866	.	0.157375	0.56097	D	0.000028	T	0.32556	0.0833	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	T	0.05419	-1.0886	10	0.72032	D	0.01	.	19.2246	0.93814	0.0:1.0:0.0:0.0	.	830;925	E9PH24;O43424	.;GRID2_HUMAN	I	925;830	ENSP00000282020:T925I;ENSP00000421257:T830I	ENSP00000282020:T925I	T	+	2	0	GRID2	94912422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.531000	0.85337	0.650000	0.86243	ACT		0.458	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			28	52	0	0	0	1	0	28	52				
CEP290	80184	broad.mit.edu	37	12	88505575	88505575	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88505575C>A	ENST00000552810.1	-	21	2456	c.2113G>T	c.(2113-2115)Gtt>Ttt	p.V705F	CEP290_ENST00000309041.7_Missense_Mutation_p.V707F|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	705					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTGATCAACTTGGGCTTTC	0.358																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(2113-2115)Gtt>Ttt		centrosomal protein 290kDa							50.0	49.0	49.0					12																	88505575		1808	4069	5877	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88505575C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2113G>T	12.37:g.88505575C>A	ENSP00000448012:p.Val705Phe					CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.V707F	p.V705F	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			21	2456	-			705					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.2113G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561141	0.86335	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	D;D	0.83673	-1.75;-1.75	5.75	5.75	0.90469	.	0.073062	0.56097	D	0.000022	D	0.89417	0.6709	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.962	D	0.85190	0.1009	10	0.19590	T	0.45	.	20.0112	0.97449	0.0:1.0:0.0:0.0	.	705;705	Q05BJ6;O15078	.;CE290_HUMAN	F	705;707;705	ENSP00000448012:V705F;ENSP00000308021:V707F	ENSP00000308021:V707F	V	-	1	0	CEP290	87029706	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.165000	0.42396	2.728000	0.93425	0.580000	0.79431	GTT		0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		8	24	1	0	0.00307968	1	0.00325696	8	24				
CTBP1	1487	broad.mit.edu	37	4	1244466	1244466	+	5'Flank	SNP	C	C	T	rs372207389		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1244466C>T	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1_ENST00000382952.3_5'Flank|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000581398.1_RNA	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGTGCAGGGACGTACCACCCC	0.617																																						ENST00000581398.1																			0															C		0,4406		0,0,2203	78.0	77.0	78.0			0.5	0.0	4		78	1,8599	1.2+/-3.3	0,1,4299	no	near-gene-5				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			1244466	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	0							g.chr4:1244466C>T	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1244466C>T	Exception_encountered					CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA		NR_033339.1						0	420	+								Q4W5N3|Q7Z2Q5	RNA	SNP	ENST00000290921.6	37		CCDS3348.1																																																																																				0.617	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		13	72	0	0	0	1	0	13	72				
TENM2	57451	broad.mit.edu	37	5	167489208	167489208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167489208C>A	ENST00000518659.1	+	7	1492	c.1453C>A	c.(1453-1455)Ctc>Atc	p.L485I	TENM2_ENST00000520394.1_Missense_Mutation_p.L253I|TENM2_ENST00000545108.1_Missense_Mutation_p.L485I|TENM2_ENST00000519204.1_Missense_Mutation_p.L364I|TENM2_ENST00000403607.2_Missense_Mutation_p.L318I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	485					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAACATCTCCCTCGGGAAGGA	0.453																																						ENST00000519204.1																			0											c.(1090-1092)Ctc>Atc		teneurin transmembrane protein 2							121.0	120.0	120.0					5																	167489208		1911	4123	6034	SO:0001583	missense	57451							g.chr5:167489208C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1453C>A	5.37:g.167489208C>A	ENSP00000429430:p.Leu485Ile					TENM2_ENST00000520394.1_Missense_Mutation_p.L253I|TENM2_ENST00000403607.2_Missense_Mutation_p.L318I|TENM2_ENST00000518659.1_Missense_Mutation_p.L485I|TENM2_ENST00000545108.1_Missense_Mutation_p.L485I	p.L364I							6	1208	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1090C>A		.	.	.	.	.	.	.	.	.	.	C	13.56	2.275075	0.40194	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.63	4.75	0.60458	.	0.229124	0.35349	N	0.003272	T	0.32823	0.0842	L	0.53617	1.68	0.34920	D	0.748388	B;P;B	0.41131	0.103;0.739;0.128	B;B;B	0.41510	0.061;0.359;0.098	T	0.41645	-0.9497	10	0.33141	T	0.24	.	7.9905	0.30237	0.0:0.7467:0.0:0.2533	.	485;253;364	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	I	485;485;364;253;318	ENSP00000429430:L485I;ENSP00000438635:L485I;ENSP00000428964:L364I;ENSP00000427874:L253I;ENSP00000384905:L318I	ENSP00000384905:L318I	L	+	1	0	ODZ2	167421786	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	2.366000	0.44204	2.644000	0.89710	0.655000	0.94253	CTC		0.453	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	63	1	0	0.00024832	1	0.0002712	4	63				
ITSN1	6453	broad.mit.edu	37	21	35169735	35169735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35169735G>A	ENST00000381318.3	+	18	2293	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	ITSN1_ENST00000399353.1_Missense_Mutation_p.E632K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E669K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E669K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E669K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E669K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E669K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E669K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E669K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E669K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	669	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCAGGAGGACGAGCATCAGAG	0.478																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2005-2007)Gag>Aag		intersectin 1 (SH3 domain protein)							133.0	126.0	129.0					21																	35169735		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35169735G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2005G>A	21.37:g.35169735G>A	ENSP00000370719:p.Glu669Lys					ITSN1_ENST00000381285.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E669K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E669K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E632K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E669K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E669K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E669K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E669K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E669K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E669K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E669K	p.E669K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			18	2293	+			669			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2005G>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206178	0.58343	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;1.57;2.57;2.57;0.97	5.74	5.74	0.90152	.	0.342431	0.32640	N	0.005836	T	0.45696	0.1355	N	0.24115	0.695	0.53005	D	0.999967	D;D;B;P;D;P;D;D;D;D	0.71674	0.997;0.998;0.327;0.9;0.995;0.727;0.99;0.99;0.987;0.998	P;P;B;B;P;B;P;P;P;P	0.54100	0.647;0.736;0.026;0.229;0.561;0.078;0.461;0.461;0.742;0.736	T	0.24154	-1.0168	10	0.37606	T	0.19	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	632;632;632;669;669;669;669;669;669;632	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	632;669;669;669;669;669;669;669;669;669;669;669;669;669	ENSP00000382290:E632K;ENSP00000370719:E669K;ENSP00000370691:E669K;ENSP00000370685:E669K;ENSP00000382301:E669K;ENSP00000382289:E669K;ENSP00000382292:E669K;ENSP00000382286:E669K;ENSP00000382275:E669K;ENSP00000387377:E669K;ENSP00000382265:E669K;ENSP00000369294:E669K	ENSP00000369294:E669K	E	+	1	0	ITSN1	34091605	0.998000	0.40836	0.241000	0.24154	0.125000	0.20455	4.979000	0.63806	2.873000	0.98535	0.563000	0.77884	GAG		0.478	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		10	100	0	0	0	1	0	10	100				
DARS2	55157	broad.mit.edu	37	1	173799819	173799819	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173799819A>G	ENST00000361951.4	+	4	1043	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	106					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TGTGAAGAAGATTTTATGTGA	0.423																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(316-318)Att>Gtt		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						117.0	120.0	119.0					1																	173799819		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173799819A>G	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.316A>G	1.37:g.173799819A>G	ENSP00000355086:p.Ile106Val					DARS2_ENST00000239457.5_5'UTR	p.I106V	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			4	1043	+			106						Missense_Mutation	SNP	ENST00000361951.4	37	c.316A>G	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	A	7.209	0.595100	0.13875	.	.	ENSG00000117593	ENST00000361951	T	0.21191	2.02	5.95	0.934	0.19477	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.787684	0.12231	N	0.487423	T	0.02688	0.0081	N	0.12471	0.22	0.24415	N	0.994648	B	0.02656	0.0	B	0.04013	0.001	T	0.47586	-0.9106	10	0.14252	T	0.57	-3.502	6.5847	0.22614	0.6421:0.1331:0.2248:0.0	.	106	Q6PI48	SYDM_HUMAN	V	106	ENSP00000355086:I106V	ENSP00000355086:I106V	I	+	1	0	DARS2	172066442	0.002000	0.14202	0.988000	0.46212	0.940000	0.58332	0.057000	0.14279	0.506000	0.28125	0.460000	0.39030	ATT		0.423	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		13	72	0	0	0	1	0	13	72				
STAB1	23166	broad.mit.edu	37	3	52547929	52547929	+	Missense_Mutation	SNP	G	G	A	rs2286786	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52547929G>A	ENST00000321725.6	+	32	3455	c.3379G>A	c.(3379-3381)Ggt>Agt	p.G1127S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1127			G -> R (in dbSNP:rs2286786).		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGTGCCCGGTGGGCAGGG	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(3379-3381)Ggt>Agt		stabilin 1							138.0	139.0	138.0					3																	52547929		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52547929G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3379G>A	3.37:g.52547929G>A	ENSP00000312946:p.Gly1127Ser						p.G1127S	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	32	3455	+			1127		G -> R (in dbSNP:rs2286786).			A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3379G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045321	0.07452	.	.	ENSG00000010327	ENST00000321725	D	0.84146	-1.81	4.78	-4.16	0.03869	.	5.021440	0.00447	N	0.000087	T	0.60011	0.2236	N	0.02539	-0.55	0.09310	N	1	B	0.27450	0.179	B	0.16289	0.015	T	0.65096	-0.6251	10	0.02654	T	1	5.6129	8.2684	0.31829	0.3442:0.457:0.1987:0.0	.	1127	Q9NY15	STAB1_HUMAN	S	1127	ENSP00000312946:G1127S	ENSP00000312946:G1127S	G	+	1	0	STAB1	52522969	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.422000	0.07043	-0.712000	0.04988	0.462000	0.41574	GGT		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		21	162	0	0	0	1	0	21	162				
SLC3A1	6519	broad.mit.edu	37	2	44528205	44528205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44528205G>A	ENST00000260649.6	+	6	1151	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	SLC3A1_ENST00000410056.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D359N|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D81N|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409740.3_5'Flank|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D359N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	359					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGGAATGCACGACATTGTCCG	0.532																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1075-1077)Gac>Aac		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						124.0	100.0	108.0					2																	44528205		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44528205G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1075G>A	2.37:g.44528205G>A	ENSP00000260649:p.Asp359Asn					SLC3A1_ENST00000410056.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D81N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D359N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D359N	p.D359N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			6	1151	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	359					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1075G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862693	0.91511	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.99532	-6.1;-6.1;-4.83;-6.1;-6.1;-6.1;-4.54	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.046086	0.85682	D	0.000000	D	0.99539	0.9835	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.75020	0.972;0.962;0.985;0.972;0.985	D	0.98440	1.0586	10	0.62326	D	0.03	-19.1512	17.6582	0.88184	0.0:0.0:1.0:0.0	.	359;359;359;359;359	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	N	359;359;295;359;359;359;359;81;137	ENSP00000260649:D359N;ENSP00000387308:D359N;ENSP00000387337:D359N;ENSP00000386954:D359N;ENSP00000386620:D359N;ENSP00000386709:D81N;ENSP00000391642:D137N	ENSP00000260649:D359N	D	+	1	0	SLC3A1	44381709	1.000000	0.71417	0.483000	0.27378	0.502000	0.33828	6.944000	0.75940	2.460000	0.83146	0.467000	0.42956	GAC		0.532	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		16	14	0	0	0	1	0	16	14				
MRPL39	54148	broad.mit.edu	37	21	26978878	26978878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26978878G>A	ENST00000352957.4	-	2	204	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	MRPL39_ENST00000307301.7_Nonsense_Mutation_p.Q55*	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	55						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AATGATAACTGCCTGGCTTTC	0.418																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(163-165)Cag>Tag		mitochondrial ribosomal protein L39							102.0	95.0	97.0					21																	26978878		2203	4300	6503	SO:0001587	stop_gained	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26978878G>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.163C>T	21.37:g.26978878G>A	ENSP00000284967:p.Gln55*					MRPL39_ENST00000352957.4_Nonsense_Mutation_p.Q55*	p.Q55*	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			2	204	-			55					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Nonsense_Mutation	SNP	ENST00000352957.4	37	c.163C>T	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	G	36	5.730662	0.96856	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-20.6769	19.0849	0.93200	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000305682:Q55X	Q	-	1	0	MRPL39	25900749	1.000000	0.71417	0.954000	0.39281	0.872000	0.50106	6.803000	0.75180	2.843000	0.97960	0.591000	0.81541	CAG		0.418	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		23	50	0	0	0	1	0	23	50				
NNT	23530	broad.mit.edu	37	5	43609301	43609301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43609301G>A	ENST00000264663.5	+	2	225	c.4G>A	c.(4-6)Gca>Aca	p.A2T	NNT_ENST00000344920.4_Missense_Mutation_p.A2T|NNT_ENST00000512996.2_Intron	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	2					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TATCAACATGGCAAACCTATT	0.398																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4-6)Gca>Aca		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						128.0	130.0	130.0					5																	43609301		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43609301G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.4G>A	5.37:g.43609301G>A	ENSP00000264663:p.Ala2Thr					NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Missense_Mutation_p.A2T	p.A2T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			2	225	+	Lung NSC(6;2.58e-06)		2					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.4G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244909	0.59103	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	D;D;D;D	0.95918	-1.96;-1.98;-3.85;-3.85	5.72	5.72	0.89469	.	0.049289	0.85682	D	0.000000	D	0.91680	0.7370	N	0.24115	0.695	0.80722	D	1	P	0.43857	0.819	B	0.37480	0.251	D	0.92532	0.6034	10	0.66056	D	0.02	-13.7442	19.8885	0.96919	0.0:0.0:1.0:0.0	.	2	Q13423	NNTM_HUMAN	T	2	ENSP00000427670:A2T;ENSP00000421886:A2T;ENSP00000264663:A2T;ENSP00000343873:A2T	ENSP00000264663:A2T	A	+	1	0	NNT	43645058	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	4.437000	0.59955	2.700000	0.92200	0.563000	0.77884	GCA		0.398	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		23	30	0	0	0	1	0	23	30				
SLC12A9	56996	broad.mit.edu	37	7	100457591	100457591	+	Silent	SNP	G	G	A	rs140502011	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100457591G>A	ENST00000354161.3	+	8	1187	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	SLC12A9_ENST00000415287.1_Silent_p.A265A|SLC12A9_ENST00000275729.3_Silent_p.A265A|SLC12A9_ENST00000540482.1_Silent_p.A354A|SLC12A9_ENST00000428758.1_Silent_p.A354A|SLC12A9_ENST00000475623.1_3'UTR	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	354					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGCCACAGCGCTCTCAGCGT	0.597																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1060-1062)gcG>gcA		solute carrier family 12, member 9		G		1,4405	2.1+/-5.4	0,1,2202	133.0	119.0	124.0		1062	-6.7	0.0	7	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	SLC12A9	NM_020246.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		354/915	100457591	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100457591G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1062G>A	7.37:g.100457591G>A						SLC12A9_ENST00000275729.3_Silent_p.A265A|SLC12A9_ENST00000540482.1_Silent_p.A354A|SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000415287.1_Silent_p.A265A|SLC12A9_ENST00000428758.1_Silent_p.A354A	p.A354A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			8	1187	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		354					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.1062G>A	CCDS5707.1																																																																																				0.597	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		35	95	0	0	0	1	0	35	95				
ZNF385A	25946	broad.mit.edu	37	12	54765377	54765377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54765377C>T	ENST00000338010.5	-	5	597	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	ZNF385A_ENST00000352268.6_Intron|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000394313.2_Missense_Mutation_p.A162T|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.A162T|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000546970.1_Missense_Mutation_p.A162T	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	182	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGCCGGGGCTGGAGTCCCC	0.627																																						ENST00000546970.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(484-486)Gcc>Acc		zinc finger protein 385A							74.0	79.0	77.0					12																	54765377		2203	4300	6503	SO:0001583	missense	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54765377C>T	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.544G>A	12.37:g.54765377C>T	ENSP00000338927:p.Ala182Thr					ZNF385A_ENST00000394313.2_Missense_Mutation_p.A162T|ZNF385A_ENST00000338010.5_Missense_Mutation_p.A182T|ZNF385A_ENST00000551109.1_Missense_Mutation_p.A162T|ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000551771.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA	p.A162T			Q96PM9	Z385A_HUMAN			6	773	-			162					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	c.484G>A	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898941	0.33535	.	.	ENSG00000161642	ENST00000551109;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000546919;ENST00000549937;ENST00000549962;ENST00000547210	T;T;T;T;T;T;T;T	0.46451	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.87	3.31	3.31	0.37934	.	0.855018	0.10155	N	0.709078	T	0.26955	0.0660	N	0.19112	0.55	0.80722	D	1	B;B;B	0.18741	0.03;0.018;0.018	B;B;B	0.21917	0.037;0.007;0.007	T	0.04440	-1.0951	10	0.11182	T	0.66	-3.7544	10.2999	0.43646	0.0:1.0:0.0:0.0	.	162;162;162	F8VRY0;Q96PM9;F1T0F1	.;Z385A_HUMAN;.	T	162;162;182;162;162;190;145;162	ENSP00000449161:A162T;ENSP00000377849:A162T;ENSP00000338927:A182T;ENSP00000446913:A162T;ENSP00000448466:A162T;ENSP00000448567:A190T;ENSP00000450149:A145T;ENSP00000448264:A162T	ENSP00000338927:A182T	A	-	1	0	ZNF385A	53051644	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	2.081000	0.41596	1.864000	0.54056	0.555000	0.69702	GCC		0.627	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		42	50	0	0	0	1	0	42	50				
BCAS3	54828	broad.mit.edu	37	17	59067480	59067480	+	Missense_Mutation	SNP	G	G	A	rs201197944	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59067480G>A	ENST00000390652.5	+	15	1401	c.1370G>A	c.(1369-1371)cGt>cAt	p.R457H	BCAS3_ENST00000589222.1_Missense_Mutation_p.R457H|BCAS3_ENST00000408905.3_Missense_Mutation_p.R457H|BCAS3_ENST00000588462.1_Missense_Mutation_p.R457H|BCAS3_ENST00000585744.1_Missense_Mutation_p.R228H|BCAS3_ENST00000588874.1_Missense_Mutation_p.R228H|BCAS3_ENST00000407086.3_Missense_Mutation_p.R457H	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGCATGAGCCGTTTCCAGAAA	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		17824	0.001		0.001	False		,,,				2504	0.0					ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1369-1371)cGt>cAt		breast carcinoma amplified sequence 3		G	HIS/ARG,HIS/ARG	0,3936		0,0,1968	75.0	77.0	76.0		1370,1370	5.4	1.0	17		76	2,8296		0,2,4147	yes	missense,missense	BCAS3	NM_001099432.1,NM_017679.3	29,29	0,2,6115	AA,AG,GG		0.0241,0.0,0.0163	probably-damaging,probably-damaging	457/929,457/914	59067480	2,12232	1968	4149	6117	SO:0001583	missense	54828					nucleus		g.chr17:59067480G>A	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1370G>A	17.37:g.59067480G>A	ENSP00000375067:p.Arg457His					BCAS3_ENST00000588462.1_Missense_Mutation_p.R457H|BCAS3_ENST00000588874.1_Missense_Mutation_p.R228H|BCAS3_ENST00000390652.5_Missense_Mutation_p.R457H|BCAS3_ENST00000407086.3_Missense_Mutation_p.R457H|BCAS3_ENST00000585744.1_Missense_Mutation_p.R228H|BCAS3_ENST00000408905.3_Missense_Mutation_p.R457H	p.R457H			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		15	1438	+			457						Missense_Mutation	SNP	ENST00000390652.5	37	c.1370G>A	CCDS45749.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.140266	0.94560	0.0	2.41E-4	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.38887	1.11;1.16;1.16	5.38	5.38	0.77491	.	0.051841	0.85682	D	0.000000	T	0.65228	0.2671	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;0.999;0.998;0.99	P;P;D;D;D;D;P	0.77004	0.848;0.882;0.923;0.971;0.989;0.976;0.835	T	0.67313	-0.5702	10	0.87932	D	0	.	19.4833	0.95018	0.0:0.0:1.0:0.0	.	248;457;457;262;457;457;457	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;.;BCAS3_HUMAN;.	H	457;457;457;457;249;262	ENSP00000375067:R457H;ENSP00000385323:R457H;ENSP00000386173:R457H	ENSP00000353336:R249H	R	+	2	0	BCAS3	56422262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.273000	0.95719	2.666000	0.90696	0.591000	0.81541	CGT		0.512	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		10	27	0	0	0	1	0	10	27				
TMEM155	132332	broad.mit.edu	37	4	122682771	122682771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122682771T>C	ENST00000337677.5	-	5	692	c.134A>G	c.(133-135)cAt>cGt	p.H45R	AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394396.1_Missense_Mutation_p.H45R|TMEM155_ENST00000394394.1_Missense_Mutation_p.H45R	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	45						extracellular region (GO:0005576)				breast(1)|lung(5)	6						AGCCAGTGCATGGCACACTCT	0.433																																						ENST00000337677.5																			0				breast(1)|lung(5)	6						c.(133-135)cAt>cGt		transmembrane protein 155							71.0	72.0	71.0					4																	122682771		2203	4300	6503	SO:0001583	missense	132332					extracellular region		g.chr4:122682771T>C	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.134A>G	4.37:g.122682771T>C	ENSP00000336987:p.His45Arg					TMEM155_ENST00000394394.1_Missense_Mutation_p.H45R|TMEM155_ENST00000394396.1_Missense_Mutation_p.H45R	p.H45R	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN			5	692	-			45					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.134A>G	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184734	0.38609	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	T;T;T;T	0.56275	0.64;0.64;0.64;0.47	5.09	-2.97	0.05530	.	0.918822	0.09061	N	0.854379	T	0.31071	0.0785	N	0.24115	0.695	0.09310	N	0.999999	B	0.20052	0.041	B	0.18871	0.023	T	0.28776	-1.0033	10	0.87932	D	0	0.5781	1.7957	0.03061	0.1532:0.3771:0.1693:0.3004	.	45	Q4W5P6	TM155_HUMAN	R	45	ENSP00000377919:H45R;ENSP00000336987:H45R;ENSP00000377917:H45R;ENSP00000422869:H45R	ENSP00000336987:H45R	H	-	2	0	TMEM155	122902221	0.324000	0.24652	0.539000	0.28077	0.999000	0.98932	-0.163000	0.09997	-0.368000	0.08040	0.533000	0.62120	CAT		0.433	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		6	44	0	0	0	1	0	6	44				
CMTM1	113540	broad.mit.edu	37	16	66600582	66600582	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66600582G>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000328020.6_Missense_Mutation_p.V56F|CMTM1_ENST00000533953.1_Missense_Mutation_p.V56F|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000379500.2_Missense_Mutation_p.V56F	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GCACCCCGCAGTCTCAATTCG	0.657																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(166-168)Gtc>Ttc		CKLF-like MARVEL transmembrane domain containing 1							59.0	72.0	67.0					16																	66600582		2201	4300	6501	SO:0001627	intron_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66600582G>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+85G>T	16.37:g.66600582G>T						CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.V56F|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000457188.2_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.V56F|CMTM1_ENST00000531885.1_Intron	p.V56F	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	1	233	+		Ovarian(137;0.0563)	0			MARVEL.		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	c.166G>T	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531984	0.27387	.	.	ENSG00000089505	ENST00000533953;ENST00000379500;ENST00000328020;ENST00000379490	T;T;T	0.58797	0.31;1.28;1.28	2.62	-5.21	0.02815	.	.	.	.	.	T	0.38506	0.1043	.	.	.	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.04013	0.001;0.0;0.0	T	0.29243	-1.0018	8	0.87932	D	0	0.9436	4.436	0.11550	0.571:0.0:0.2702:0.1588	.	56;56;56	E9PIL3;Q6PEV5;E9PAX0	.;.;.	F	56	ENSP00000435786:V56F;ENSP00000368814:V56F;ENSP00000330061:V56F	ENSP00000330061:V56F	V	+	1	0	CMTM1	65158083	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.238000	0.08977	-1.339000	0.02230	0.404000	0.27445	GTC		0.657	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		4	50	1	0	0.00909568	1	0.00947522	4	50				
PRRC2C	23215	broad.mit.edu	37	1	171510589	171510589	+	Silent	SNP	C	C	T	rs182014718		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171510589C>T	ENST00000338920.4	+	16	4215	c.3978C>T	c.(3976-3978)gaC>gaT	p.D1326D	PRRC2C_ENST00000367742.3_Silent_p.D1328D|PRRC2C_ENST00000426496.2_Silent_p.D1326D|PRRC2C_ENST00000392078.3_Silent_p.D1328D	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1326					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TAAGGGATGACGATAAAGCTA	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20701	0.0		0.0	False		,,,				2504	0.0					ENST00000367742.3																			0											c.(3982-3984)gaC>gaT		proline-rich coiled-coil 2C							39.0	39.0	39.0					1																	171510589		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171510589C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3978C>T	1.37:g.171510589C>T						PRRC2C_ENST00000392078.3_Silent_p.D1328D|PRRC2C_ENST00000426496.2_Silent_p.D1326D|PRRC2C_ENST00000338920.4_Silent_p.D1326D	p.D1328D			Q9Y520	PRC2C_HUMAN			16	4226	+			1326					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3984C>T	CCDS1296.2																																																																																				0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	33	0	0	0	1	0	5	33				
RNF126	55658	broad.mit.edu	37	19	650259	650259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:650259C>T	ENST00000292363.5	-	5	636	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGGTGGCGGGCGTGATG	0.692																																						ENST00000292363.5																			0				lung(1)	1						c.(481-483)Gcc>Acc		ring finger protein 126																																				SO:0001583	missense	55658						protein binding|zinc ion binding	g.chr19:650259C>T	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.481G>A	19.37:g.650259C>T	ENSP00000292363:p.Ala161Thr						p.A161T	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	636	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	161						Missense_Mutation	SNP	ENST00000292363.5	37	c.481G>A	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	c	6.142	0.394367	0.11638	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.14640	2.49	4.12	4.12	0.48240	.	0.055023	0.64402	D	0.000001	T	0.04182	0.0116	N	0.01771	-0.73	0.31782	N	0.630735	B	0.19073	0.033	B	0.10450	0.005	T	0.26292	-1.0107	10	0.12766	T	0.61	.	7.079	0.25221	0.0:0.8003:0.0:0.1997	.	161	Q9BV68-2	.	T	161	ENSP00000292363:A161T	ENSP00000292363:A161T	A	-	1	0	RNF126	601259	0.996000	0.38824	0.920000	0.36463	0.802000	0.45316	3.165000	0.50778	2.224000	0.72417	0.555000	0.69702	GCC		0.692	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		4	4	0	0	0	1	0	4	4				
MTA3	57504	broad.mit.edu	37	2	42871382	42871382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42871382A>G	ENST00000405094.1	+	6	497	c.497A>G	c.(496-498)gAa>gGa	p.E166G	MTA3_ENST00000406652.1_Missense_Mutation_p.E110G|MTA3_ENST00000406911.1_Missense_Mutation_p.E166G|MTA3_ENST00000407270.3_Missense_Mutation_p.E166G|MTA3_ENST00000405592.1_Missense_Mutation_p.E110G			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	166	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATGCTGTTAGAAGGTACGTTT	0.388																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(328-330)gAa>gGa		metastasis associated 1 family, member 3							126.0	114.0	118.0					2																	42871382		1854	4100	5954	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42871382A>G	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.497A>G	2.37:g.42871382A>G	ENSP00000385823:p.Glu166Gly					MTA3_ENST00000407270.3_Missense_Mutation_p.E166G|MTA3_ENST00000406652.1_Missense_Mutation_p.E110G|MTA3_ENST00000405094.1_Missense_Mutation_p.E166G|MTA3_ENST00000406911.1_Missense_Mutation_p.E166G	p.E110G			Q9BTC8	MTA3_HUMAN			7	999	+			166			BAH.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.329A>G		.	.	.	.	.	.	.	.	.	.	A	21.9	4.220498	0.79464	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.79	4.79	0.61399	.	0.129814	0.51477	D	0.000087	T	0.56366	0.1980	M	0.80616	2.505	0.58432	D	0.999999	P;P;D	0.62365	0.932;0.837;0.991	P;P;D	0.72075	0.752;0.562;0.976	T	0.61978	-0.6951	10	0.62326	D	0.03	-0.919	13.4575	0.61208	1.0:0.0:0.0:0.0	.	166;166;110	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	G	110;110;166;166;166;166	ENSP00000383973:E110G;ENSP00000384249:E110G;ENSP00000385045:E166G;ENSP00000385241:E166G;ENSP00000385823:E166G	ENSP00000282366:E166G	E	+	2	0	MTA3	42724886	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	8.583000	0.90794	1.994000	0.58287	0.533000	0.62120	GAA		0.388	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		5	41	0	0	0	1	0	5	41				
PCSK5	5125	broad.mit.edu	37	9	78638728	78638728	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78638728A>C	ENST00000545128.1	+	4	1024	c.486A>C	c.(484-486)ggA>ggC	p.G162G	PCSK5_ENST00000376767.3_Silent_p.G162G|PCSK5_ENST00000376752.4_Silent_p.G162G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	162					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTACACGGGAAAGAACATTG	0.473																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(484-486)ggA>ggC		proprotein convertase subtilisin/kexin type 5							178.0	154.0	162.0					9																	78638728		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78638728A>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.486A>C	9.37:g.78638728A>C						PCSK5_ENST00000376752.4_Silent_p.G162G|PCSK5_ENST00000376767.3_Silent_p.G162G	p.G162G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			4	1024	+			162			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.486A>C	CCDS55320.1																																																																																				0.473	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	69	0	0	0	1	0	5	69				
CHD2	1106	broad.mit.edu	37	15	93541812	93541812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93541812G>T	ENST00000394196.4	+	31	5037	c.3969G>T	c.(3967-3969)aaG>aaT	p.K1323N	CHD2_ENST00000557381.1_Missense_Mutation_p.K1323N	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1323					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGCTCAGAAAGGGTCTGGAGA	0.532																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3967-3969)aaG>aaT		chromodomain helicase DNA binding protein 2							103.0	105.0	105.0					15																	93541812		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93541812G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3969G>T	15.37:g.93541812G>T	ENSP00000377747:p.Lys1323Asn					CHD2_ENST00000557381.1_Missense_Mutation_p.K1323N	p.K1323N	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		31	5037	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1323					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3969G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457507	0.63401	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.91180	-2.8;-2.78	5.16	4.23	0.50019	.	0.000000	0.35495	U	0.003172	D	0.93465	0.7915	M	0.76170	2.325	0.80722	D	1	P;D	0.71674	0.906;0.998	P;D	0.66351	0.521;0.943	D	0.93109	0.6515	10	0.72032	D	0.01	-25.7106	9.0602	0.36429	0.2464:0.0:0.7536:0.0	.	1323;1323	O14647;O14647-2	CHD2_HUMAN;.	N	1323	ENSP00000377747:K1323N;ENSP00000451366:K1323N	ENSP00000377747:K1323N	K	+	3	2	CHD2	91342816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.022000	0.30052	2.578000	0.87016	0.561000	0.74099	AAG		0.532	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		6	123	1	0	0.00116845	1	0.00124821	6	123				
SLC6A5	9152	broad.mit.edu	37	11	20658807	20658807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20658807C>A	ENST00000525748.1	+	12	2100	c.1827C>A	c.(1825-1827)tgC>tgA	p.C609*	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	609					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTGGGCTGCTGCATTTGTT	0.542																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1825-1827)tgC>tgA		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						150.0	136.0	141.0					11																	20658807		2203	4300	6503	SO:0001587	stop_gained	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20658807C>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1827C>A	11.37:g.20658807C>A	ENSP00000434364:p.Cys609*					SLC6A5_ENST00000528440.1_3'UTR	p.C609*	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			12	2100	+			609					O95288|Q4VAM7|Q9BX77	Nonsense_Mutation	SNP	ENST00000525748.1	37	c.1827C>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	42	9.403866	0.99161	.	.	ENSG00000165970	ENST00000525748	.	.	.	5.67	2.7	0.31948	.	0.086827	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	9.6393	0.39828	0.0:0.7716:0.0:0.2284	.	.	.	.	X	609	.	ENSP00000434364:C609X	C	+	3	2	SLC6A5	20615383	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.089000	0.50183	0.686000	0.31488	0.655000	0.94253	TGC		0.542	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		10	71	1	0	0.00621372	1	0.00652201	10	71				
TTBK2	146057	broad.mit.edu	37	15	43067512	43067512	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067512C>T	ENST00000267890.6	-	13	1927	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	607					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTAAATGATCATTTTCTGCC	0.463																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1819-1821)Gat>Aat		tau tubulin kinase 2							120.0	115.0	116.0					15																	43067512		1877	4107	5984	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067512C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1819G>A	15.37:g.43067512C>T	ENSP00000267890:p.Asp607Asn						p.D607N	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	13	1927	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	607					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1819G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240783	0.22711	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.36699	1.24	5.77	0.014	0.14098	.	0.770674	0.12574	N	0.457059	T	0.10423	0.0255	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34054	-0.9844	10	0.15499	T	0.54	.	5.3767	0.16170	0.0:0.4524:0.2563:0.2913	.	538;607	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	N	607;537;1012	ENSP00000267890:D607N	ENSP00000263802:D1012N	D	-	1	0	TTBK2	40854804	0.000000	0.05858	0.788000	0.31933	0.992000	0.81027	-0.506000	0.06359	0.024000	0.15214	0.650000	0.86243	GAT		0.463	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		30	86	0	0	0	1	0	30	86				
LRRC18	474354	broad.mit.edu	37	10	50121843	50121843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50121843G>A	ENST00000374160.3	-	1	434	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.L120F|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	120						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATGTTCTTGAGTTGCTTCAGC	0.607																																						ENST00000374160.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(358-360)Ctc>Ttc		leucine rich repeat containing 18							92.0	87.0	89.0					10																	50121843		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121843G>A	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.358C>T	10.37:g.50121843G>A	ENSP00000363275:p.Leu120Phe					RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.L120F|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	p.L120F	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN			1	434	-			120					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.358C>T	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878487	0.72294	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.34667	1.35;1.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	M	0.91818	3.245	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.75010	-0.3468	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	120	Q8N456	LRC18_HUMAN	F	120	ENSP00000363275:L120F;ENSP00000298124:L120F	.	L	-	1	0	LRRC18	49791849	1.000000	0.71417	0.996000	0.52242	0.439000	0.31926	5.579000	0.67457	2.885000	0.99019	0.655000	0.94253	CTC		0.607	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		11	22	0	0	0	1	0	11	22				
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	C	T	rs543970158		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4491791C>T	ENST00000301284.4	+	6	701	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R213W	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		213	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										AGCAGCGGTCCGGGCGCCACG	0.627																																						ENST00000301284.4																			0											c.(637-639)Cgg>Tgg									48.0	60.0	56.0					19																	4491791		1892	4107	5999	SO:0001583	missense	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491791C>T																												ENST00000301284.4:c.637C>T	19.37:g.4491791C>T	ENSP00000301284:p.Arg213Trp					HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R213W	p.R213W	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			6	701	+			213			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.637C>T	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362815	0.82353	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.51574	0.7	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000001	T	0.62575	0.2439	M	0.63843	1.955	0.38761	D	0.95433	D;D	0.76494	0.999;0.999	P;P	0.60609	0.877;0.877	T	0.69224	-0.5201	10	0.72032	D	0.01	.	14.9974	0.71443	0.0:1.0:0.0:0.0	.	213;213	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	W	213;199	ENSP00000301284:R213W	ENSP00000301284:R213W	R	+	1	2	AC011498.1	4442791	0.953000	0.32496	0.421000	0.26609	0.914000	0.54420	1.867000	0.39499	2.290000	0.77057	0.555000	0.69702	CGG		0.627	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			45	39	0	0	0	1	0	45	39				
CLCNKB	1188	broad.mit.edu	37	1	16377038	16377038	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16377038C>A	ENST00000375679.4	+	11	1107	c.996C>A	c.(994-996)acC>acA	p.T332T	CLCNKB_ENST00000375667.3_Silent_p.T163T	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	332					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGCCACCTTGGTTCTCG	0.647																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(994-996)acC>acA		chloride channel, voltage-sensitive Kb							171.0	135.0	147.0					1																	16377038		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16377038C>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.996C>A	1.37:g.16377038C>A						CLCNKB_ENST00000375667.3_Silent_p.T163T	p.T332T	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1107	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.996C>A	CCDS168.1																																																																																				0.647	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		6	62	1	0	0.00198382	1	0.00210581	6	62				
TRIM9	114088	broad.mit.edu	37	14	51464729	51464729	+	Intron	SNP	G	G	A	rs369002549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51464729G>A	ENST00000298355.3	-	7	2725				TRIM9_ENST00000338969.5_Intron|TRIM9_ENST00000360392.4_Missense_Mutation_p.R548C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9						negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGATGCCACGCAGTTCTCGC	0.562																																						ENST00000360392.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1642-1644)Cgt>Tgt		tripartite motif containing 9		G	,CYS/ARG	0,4406		0,0,2203	69.0	57.0	61.0		,1642	5.0	1.0	14		61	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TRIM9	NM_015163.5,NM_052978.4	,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,548/551	51464729	1,13005	2203	4300	6503	SO:0001627	intron_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51464729G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1603+38C>T	14.37:g.51464729G>A						TRIM9_ENST00000298355.3_Intron|TRIM9_ENST00000338969.5_Intron	p.R548C	NM_052978.4	NP_443210.1	Q9C026	TRIM9_HUMAN			7	1778	-	all_epithelial(31;0.00418)|Breast(41;0.148)		0			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.1642C>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544893	0.45280	0.0	1.16E-4	ENSG00000100505	ENST00000360392	T	0.53640	0.61	6.06	4.99	0.66335	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.28637	N	0.907349	B	0.12013	0.005	B	0.04013	0.001	T	0.15578	-1.0432	8	0.87932	D	0	.	7.2833	0.26324	0.1256:0.1677:0.7068:0.0	.	548	Q9C026-5	.	C	548	ENSP00000353561:R548C	ENSP00000353561:R548C	R	-	1	0	TRIM9	50534479	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.461000	0.53035	2.882000	0.98803	0.655000	0.94253	CGT		0.562	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		3	22	0	0	0	1	0	3	22				
ERRFI1	54206	broad.mit.edu	37	1	8073377	8073377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8073377C>T	ENST00000377482.5	-	4	1505	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	428					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)	p.A428S(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCGCAGTCAGCAGGTAATGGC	0.433																																						ENST00000377482.5																			1	Substitution - Missense(1)	p.A428S(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(1282-1284)Gct>Act		ERBB receptor feedback inhibitor 1							152.0	142.0	145.0					1																	8073377		2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073377C>T	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1282G>A	1.37:g.8073377C>T	ENSP00000366702:p.Ala428Thr					ERRFI1_ENST00000474874.1_Intron	p.A428T	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1505	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	428					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.1282G>A	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522926	0.44866	.	.	ENSG00000116285	ENST00000377482	T	0.14516	2.5	5.9	1.99	0.26369	.	0.431580	0.21919	N	0.067197	T	0.08846	0.0219	N	0.22421	0.69	0.38335	D	0.943907	B	0.11235	0.004	B	0.08055	0.003	T	0.16070	-1.0415	10	0.45353	T	0.12	-6.9827	8.7967	0.34883	0.0:0.648:0.0:0.352	.	428	Q9UJM3	ERRFI_HUMAN	T	428	ENSP00000366702:A428T	ENSP00000366702:A428T	A	-	1	0	ERRFI1	7995964	0.665000	0.27466	0.009000	0.14445	0.322000	0.28314	0.906000	0.28517	0.416000	0.25844	0.650000	0.86243	GCT		0.433	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		8	100	0	0	0	1	0	8	100				
ESR1	2099	broad.mit.edu	37	6	152332875	152332875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152332875G>A	ENST00000206249.3	+	5	1543	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	ESR1_ENST00000440973.1_Missense_Mutation_p.R394H|ESR1_ENST00000443427.1_Missense_Mutation_p.R394H|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.R394H|ESR1_ENST00000456483.2_Missense_Mutation_p.R282H|ESR1_ENST00000427531.2_Missense_Mutation_p.R221H	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	394	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CTCGTCTGGCGCTCCATGGAG	0.498																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1180-1182)cGc>cAc		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						143.0	128.0	133.0					6																	152332875		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332875G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1181G>A	6.37:g.152332875G>A	ENSP00000206249:p.Arg394His					ESR1_ENST00000338799.5_Missense_Mutation_p.R394H|ESR1_ENST00000206249.3_Missense_Mutation_p.R394H|ESR1_ENST00000456483.2_Missense_Mutation_p.R282H|ESR1_ENST00000443427.1_Missense_Mutation_p.R394H|ESR1_ENST00000544394.1_Missense_Mutation_p.R221H|ESR1_ENST00000406599.1_Intron	p.R394H	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	7	1551	+		Ovarian(120;0.0448)	394			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1181G>A	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.424514|5.424514	0.96111|0.96111	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	.|D;D;D;D;D;D;T	.|0.97232	.|-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;0.33	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99124|0.99124	0.9698|0.9698	H|H	0.96576|0.96576	3.845|3.845	0.80722|0.80722	D|D	1|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;0.998;0.996;1.0;0.996;0.998	D|D	0.99297|0.99297	1.0900|1.0900	5|10	.|0.87932	.|D	.|0	.|.	19.21|19.21	0.93749|0.93749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|298;175;89;393;394;394	.|B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.|.;.;.;.;.;ESR1_HUMAN	T|H	299|394;394;282;175;394;394;322;221;67	.|ENSP00000405330:R394H;ENSP00000342630:R394H;ENSP00000415934:R282H;ENSP00000387500:R394H;ENSP00000206249:R394H;ENSP00000445454:R221H;ENSP00000401995:R67H	.|ENSP00000206249:R394H	A|R	+|+	1|2	0|0	ESR1|ESR1	152374568|152374568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.541000|2.541000	0.85698|0.85698	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.498	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			34	53	0	0	0	1	0	34	53				
PCDHGA8	9708	broad.mit.edu	37	5	140774315	140774315	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140774315C>A	ENST00000398604.2	+	1	1935	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGGTGGCCGTCCAGGACC	0.677																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1933-1935)gcC>gcA									29.0	35.0	33.0					5																	140774315		2200	4294	6494	SO:0001819	synonymous_variant	0							g.chr5:140774315C>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1935C>A	5.37:g.140774315C>A						PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A645A	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1935	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1935C>A	CCDS47291.1																																																																																				0.677	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		6	31	1	0	2.7689e-08	1	3.31013e-08	6	31				
SBNO1	55206	broad.mit.edu	37	12	123804521	123804521	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123804521A>G	ENST00000602398.1	-	20	2852	c.2725T>C	c.(2725-2727)Tca>Cca	p.S909P	SBNO1_ENST00000602750.1_Missense_Mutation_p.S908P|SBNO1_ENST00000267176.4_Missense_Mutation_p.S908P|SBNO1_ENST00000420886.2_Missense_Mutation_p.S909P			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	909					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCAGATCTTGACTCATAAGAT	0.408																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(2725-2727)Tca>Cca		strawberry notch homolog 1 (Drosophila)							218.0	180.0	193.0					12																	123804521		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123804521A>G	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2725T>C	12.37:g.123804521A>G	ENSP00000473665:p.Ser909Pro					SBNO1_ENST00000267176.4_Missense_Mutation_p.S908P|SBNO1_ENST00000602750.1_Missense_Mutation_p.S908P|SBNO1_ENST00000602398.1_Missense_Mutation_p.S909P	p.S909P	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	19	2724	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		909					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.2725T>C	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382552	0.82792	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.33654	1.4;1.4	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.51805	0.1696	L	0.43554	1.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	T	0.41610	-0.9499	10	0.27785	T	0.31	-20.4731	16.0038	0.80344	1.0:0.0:0.0:0.0	.	909;908	A3KN83;A3KN83-2	SBNO1_HUMAN;.	P	909;908	ENSP00000387361:S909P;ENSP00000267176:S908P	ENSP00000267176:S908P	S	-	1	0	SBNO1	122370474	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.248000	0.95456	2.168000	0.68352	0.460000	0.39030	TCA		0.408	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		3	41	0	0	0	1	0	3	41				
CES1	1066	broad.mit.edu	37	16	55860116	55860116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55860116G>A	ENST00000361503.4	-	3	479	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	CES1_ENST00000360526.3_Missense_Mutation_p.L118F|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000422046.2_Missense_Mutation_p.L117F			P23141	EST1_HUMAN	carboxylesterase 1	117					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTGAGGTAAAGACAGTCTTCA	0.517																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(349-351)Ctt>Ttt		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						156.0	184.0	174.0					16																	55860116		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55860116G>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.349C>T	16.37:g.55860116G>A	ENSP00000355193:p.Leu117Phe					CES1_ENST00000360526.3_Missense_Mutation_p.L118F|CES1_ENST00000361503.4_Missense_Mutation_p.L117F|CES1_ENST00000566555.1_5'UTR	p.L117F			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	3	630	-			117					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.349C>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	15.85	2.956134	0.53293	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	D;D;D	0.90620	-2.7;-2.7;-2.7	4.7	3.63	0.41609	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.38164	N	0.001790	D	0.96722	0.8930	H	0.98951	4.38	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95929	0.8937	10	0.87932	D	0	.	7.643	0.28305	0.1652:0.0:0.8348:0.0	.	117;117;118	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	F	118;117;117	ENSP00000353720:L118F;ENSP00000355193:L117F;ENSP00000390492:L117F	ENSP00000353720:L118F	L	-	1	0	CES1	54417617	0.999000	0.42202	0.472000	0.27241	0.564000	0.35744	2.929000	0.48916	2.196000	0.70406	0.400000	0.26472	CTT		0.517	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		84	165	0	0	0	1	0	84	165				
SPATA45	149643	broad.mit.edu	37	1	213009370	213009370	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213009370A>G	ENST00000332912.3	-	2	229	c.122T>C	c.(121-123)gTc>gCc	p.V41A		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		41										kidney(1)|large_intestine(1)|lung(1)	3						CAGTAAGCTGACTTGATTGCT	0.443																																						ENST00000332912.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(121-123)gTc>gCc		chromosome 1 open reading frame 227							198.0	182.0	187.0					1																	213009370		2203	4297	6500	SO:0001583	missense	149643							g.chr1:213009370A>G																												ENST00000332912.3:c.122T>C	1.37:g.213009370A>G	ENSP00000419160:p.Val41Ala						p.V41A	NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN			2	229	-			41						Missense_Mutation	SNP	ENST00000332912.3	37	c.122T>C	CCDS31020.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210048	0.58343	.	.	ENSG00000185523	ENST00000332912	T	0.58210	0.35	4.71	4.71	0.59529	.	0.000000	0.45606	D	0.000345	T	0.58836	0.2150	.	.	.	0.32774	N	0.503437	D	0.59357	0.985	P	0.56823	0.807	T	0.65479	-0.6158	9	0.30078	T	0.28	-13.2313	10.8817	0.46942	1.0:0.0:0.0:0.0	.	41	Q537H7	CA227_HUMAN	A	41	ENSP00000419160:V41A	ENSP00000419160:V41A	V	-	2	0	C1orf227	211075993	0.992000	0.36948	0.996000	0.52242	0.967000	0.64934	2.407000	0.44565	2.340000	0.79590	0.528000	0.53228	GTC		0.443	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			27	176	0	0	0	1	0	27	176				
ISL1	3670	broad.mit.edu	37	5	50680528	50680528	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50680528G>T	ENST00000230658.7	+	2	767	c.182G>T	c.(181-183)aGg>aTg	p.R61M	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Missense_Mutation_p.R61M	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	61	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGCTTTGTTAGGGATGGGAAA	0.403																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(181-183)aGg>aTg		ISL LIM homeobox 1							204.0	192.0	195.0					5																	50680528		1868	4125	5993	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50680528G>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.182G>T	5.37:g.50680528G>T	ENSP00000230658:p.Arg61Met					ISL1_ENST00000511384.1_Missense_Mutation_p.R61M	p.R61M	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			2	767	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	61			LIM zinc-binding 1.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.182G>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127627	0.77549	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.87966	-2.32;-2.32	6.16	6.16	0.99307	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94229	0.7474	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	61	P61371	ISL1_HUMAN	M	61	ENSP00000230658:R61M;ENSP00000422676:R61M	ENSP00000230658:R61M	R	+	2	0	ISL1	50716285	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.832000	0.99423	2.937000	0.99478	0.650000	0.86243	AGG		0.403	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		62	107	1	0	9.65139e-37	1	1.2994e-36	62	107				
TUBGCP6	85378	broad.mit.edu	37	22	50656511	50656511	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50656511T>G	ENST00000248846.5	-	24	5308	c.5204A>C	c.(5203-5205)aAc>aCc	p.N1735T	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1735					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGATGACGTTCATGACGGG	0.706																																						ENST00000248846.5																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(5203-5205)aAc>aCc		tubulin, gamma complex associated protein 6							45.0	53.0	50.0					22																	50656511		2201	4295	6496	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656511T>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5204A>C	22.37:g.50656511T>G	ENSP00000248846:p.Asn1735Thr					TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR	p.N1735T			Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	24	5308	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1735					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.5204A>C	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129429	0.56721	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.25414	3.0;1.8	4.88	4.88	0.63580	.	0.086495	0.85682	D	0.000000	T	0.44329	0.1288	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.83275	0.996;0.984;0.993	T	0.24190	-1.0167	10	0.37606	T	0.19	.	14.4807	0.67579	0.0:0.0:0.0:1.0	.	1727;1735;1718	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	T	1735;404	ENSP00000248846:N1735T;ENSP00000405979:N404T	ENSP00000248846:N1735T	N	-	2	0	TUBGCP6	48998638	1.000000	0.71417	0.981000	0.43875	0.217000	0.24651	6.134000	0.71689	1.829000	0.53265	0.260000	0.18958	AAC		0.706	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		22	47	0	0	0	1	0	22	47				
CHRDL2	25884	broad.mit.edu	37	11	74413958	74413958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74413958G>A	ENST00000376332.3	-	9	1497	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A334V	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	334					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCGGCCCGGTGCCTTGGGACA	0.567											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(1000-1002)gCa>gTa		chordin-like 2							109.0	107.0	108.0					11																	74413958		2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74413958G>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1001C>T	11.37:g.74413958G>A	ENSP00000365510:p.Ala334Val		OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	CHRDL2_ENST00000263671.5_Missense_Mutation_p.A334V|CHRDL2_ENST00000534159.1_5'UTR	p.A334V	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			9	1497	-	Hepatocellular(1;0.098)		334					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.1001C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.21|11.21	1.570478|1.570478	0.28003|0.28003	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789|ENST00000525413	T;T;T|.	0.60548|.	0.18;0.18;0.18|.	5.09|5.09	-5.52|-5.52	0.02560|0.02560	.|.	0.935608|.	0.09096|.	N|.	0.849213|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.29366|0.29366	-1.0014|-1.0014	10|5	0.24483|.	T|.	0.36|.	-0.0091|-0.0091	2.3879|2.3879	0.04370|0.04370	0.527:0.1654:0.1833:0.1243|0.527:0.1654:0.1833:0.1243	.|.	269;334;334|.	E9PCG7;Q6WN34;Q6WN34-2|.	.;CRDL2_HUMAN;.|.	V|Y	334;334;220;218;269|134	ENSP00000263671:A334V;ENSP00000365510:A334V;ENSP00000431380:A269V|.	ENSP00000263671:A334V|.	A|H	-|-	2|1	0|0	CHRDL2|CHRDL2	74091606|74091606	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.673000|0.673000	0.39480|0.39480	-1.126000|-1.126000	0.03254|0.03254	-0.651000|-0.651000	0.05415|0.05415	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.567	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			28	46	0	0	0	1	0	28	46				
VPS41	27072	broad.mit.edu	37	7	38857475	38857475	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38857475G>T	ENST00000310301.4	-	7	446	c.392C>A	c.(391-393)gCt>gAt	p.A131D	VPS41_ENST00000395969.2_Missense_Mutation_p.A106D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	131					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGGTGCACAGCAATAATCTA	0.463																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(391-393)gCt>gAt		vacuolar protein sorting 41 homolog (S. cerevisiae)							163.0	140.0	148.0					7																	38857475		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38857475G>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.392C>A	7.37:g.38857475G>T	ENSP00000309457:p.Ala131Asp					VPS41_ENST00000395969.2_Missense_Mutation_p.A106D	p.A131D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			7	446	-			131					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.392C>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443707	0.83993	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141;ENST00000414632;ENST00000418457	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.91717	3.235	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.82774	-0.0291	10	0.52906	T	0.07	-14.1845	16.4998	0.84254	0.0:0.0:1.0:0.0	.	131;106;131	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	D	131;106;57;118;81	ENSP00000309457:A131D;ENSP00000379297:A106D;ENSP00000412974:A57D;ENSP00000411919:A118D;ENSP00000407835:A81D	ENSP00000265745:A131D	A	-	2	0	VPS41	38824000	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	7.430000	0.80321	2.320000	0.78422	0.460000	0.39030	GCT		0.463	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			27	54	1	0	2.49675e-24	1	3.31153e-24	27	54				
SLC35G3	146861	broad.mit.edu	37	17	33520791	33520791	+	Missense_Mutation	SNP	G	G	A	rs537989829	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33520791G>A	ENST00000297307.5	-	1	621	c.536C>T	c.(535-537)aCa>aTa	p.T179I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	179						integral component of membrane (GO:0016021)											CTCCTGTAGTGTCCAGAGTCC	0.587																																						ENST00000297307.5																			0											c.(535-537)aCa>aTa		solute carrier family 35, member G3							157.0	159.0	158.0					17																	33520791		2203	4298	6501	SO:0001583	missense	146861					integral to membrane		g.chr17:33520791G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.536C>T	17.37:g.33520791G>A	ENSP00000297307:p.Thr179Ile						p.T179I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	621	-			179					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.536C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	9.809	1.182692	0.21870	.	.	ENSG00000164729	ENST00000297307	T	0.28069	1.63	.	.	.	.	0.000000	0.49305	D	0.000154	T	0.31136	0.0787	L	0.27053	0.805	0.26783	N	0.969552	D	0.76494	0.999	D	0.78314	0.991	T	0.10337	-1.0634	9	0.37606	T	0.19	-2.341	2.6646	0.05037	0.4962:0.0:0.5037:0.0	.	179	Q8N808	S35G3_HUMAN	I	179	ENSP00000297307:T179I	ENSP00000297307:T179I	T	-	2	0	SLC35G3	30544904	0.306000	0.24490	0.326000	0.25389	0.327000	0.28475	0.126000	0.15769	0.064000	0.16427	0.064000	0.15345	ACA		0.587	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		9	149	0	0	0	1	0	9	149				
CDH1	999	broad.mit.edu	37	16	68847244	68847244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847244C>T	ENST00000261769.5	+	9	1357	c.1166C>T	c.(1165-1167)gCt>gTt	p.A389V	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Intron|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	389	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGAACGAGGCTAACGTCGTA	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		3	Deletion - In frame(2)|Unknown(1)	p.Y380_K440del(2)|p.?(1)	breast(2)|stomach(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1165-1167)gCt>gTt		cadherin 1, type 1, E-cadherin (epithelial)							171.0	149.0	157.0					16																	68847244		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68847244C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1166C>T	16.37:g.68847244C>T	ENSP00000261769:p.Ala389Val					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	p.A389V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	9	1357	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	389			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1166C>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	5.598	0.295030	0.10622	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794	T	0.51817	0.69	6.04	-5.36	0.02689	Cadherin (3);Cadherin-like (1);	0.587367	0.14484	N	0.316796	T	0.17789	0.0427	N	0.02697	-0.525	0.09310	N	0.999999	B	0.09022	0.002	B	0.15870	0.014	T	0.34304	-0.9834	10	0.02654	T	1	.	15.8164	0.78604	0.0:0.3228:0.0:0.6772	.	389	P12830	CADH1_HUMAN	V	389	ENSP00000261769:A389V	ENSP00000261769:A389V	A	+	2	0	CDH1	67404745	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.732000	0.04904	-0.893000	0.03930	0.561000	0.74099	GCT		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		35	71	0	0	0	1	0	35	71				
PIK3CD	5293	broad.mit.edu	37	1	9776516	9776516	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9776516G>T	ENST00000377346.4	+	6	814	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	PIK3CD_ENST00000361110.2_Missense_Mutation_p.V207L|PIK3CD_ENST00000536656.1_Missense_Mutation_p.V207L|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	207	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CACCTTCCAGGTGTCCACCAA	0.667																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(619-621)Gtg>Ttg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							47.0	41.0	43.0					1																	9776516		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9776516G>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.619G>T	1.37:g.9776516G>T	ENSP00000366563:p.Val207Leu					PIK3CD_ENST00000377346.4_Missense_Mutation_p.V207L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V207L	p.V207L			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	6	827	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	207					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.619G>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511905	0.64522	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.48522	0.81;0.81;0.81	5.38	4.46	0.54185	Phosphoinositide 3-kinase, ras-binding (2);	0.211314	0.43416	D	0.000565	T	0.55513	0.1925	M	0.66297	2.02	0.80722	D	1	P;P;P	0.45634	0.863;0.74;0.484	P;P;P	0.53360	0.724;0.457;0.517	T	0.58177	-0.7682	10	0.72032	D	0.01	-30.1049	7.0463	0.25048	0.1114:0.0:0.7198:0.1688	.	207;207;207	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	L	207	ENSP00000446444:V207L;ENSP00000366563:V207L;ENSP00000354410:V207L	ENSP00000353766:V207L	V	+	1	0	PIK3CD	9699103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.267000	0.58877	1.250000	0.43966	0.655000	0.94253	GTG		0.667	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		13	18	1	0	9.31168e-06	1	1.06029e-05	13	18				
FRZB	2487	broad.mit.edu	37	2	183702695	183702695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183702695C>T	ENST00000295113.4	-	5	1451	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	281	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTTACCGAGTCGATCCTTCCA	0.328																																						ENST00000295113.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(841-843)cGa>cAa		frizzled-related protein							80.0	75.0	77.0					2																	183702695		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183702695C>T	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.842G>A	2.37:g.183702695C>T	ENSP00000295113:p.Arg281Gln						p.R281Q	NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		5	1451	-			281			NTR.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.842G>A	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842127	0.32513	.	.	ENSG00000162998	ENST00000295113	T	0.29917	1.55	5.71	5.71	0.89125	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.060231	0.64402	D	0.000003	T	0.17746	0.0426	N	0.14661	0.345	0.51767	D	0.999934	P	0.39696	0.683	B	0.32805	0.153	T	0.07121	-1.0789	10	0.08381	T	0.77	.	19.8625	0.96789	0.0:1.0:0.0:0.0	.	281	Q92765	SFRP3_HUMAN	Q	281	ENSP00000295113:R281Q	ENSP00000295113:R281Q	R	-	2	0	FRZB	183410940	0.976000	0.34144	0.991000	0.47740	0.827000	0.46813	3.542000	0.53625	2.689000	0.91719	0.655000	0.94253	CGA		0.328	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		18	38	0	0	0	1	0	18	38				
GOLGA2	2801	broad.mit.edu	37	9	131029534	131029534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131029534G>A	ENST00000421699.2	-	7	512	c.500C>T	c.(499-501)gCg>gTg	p.A167V	GOLGA2_ENST00000609374.1_Missense_Mutation_p.A155V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	167					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGGGCTACCGCTAGCTGTTG	0.522																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(499-501)gCg>gTg		golgin A2							104.0	89.0	94.0					9																	131029534		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131029534G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.500C>T	9.37:g.131029534G>A	ENSP00000416097:p.Ala167Val						p.A167V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			7	512	-			167					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.500C>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	21.3	4.134599	0.77662	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.13778	2.56;2.56	5.34	3.42	0.39159	.	0.244990	0.39909	N	0.001222	T	0.22044	0.0531	M	0.71036	2.16	0.39711	D	0.971329	D	0.56287	0.975	P	0.47891	0.56	T	0.04041	-1.0982	10	0.46703	T	0.11	.	12.2467	0.54574	0.0:0.13:0.7347:0.1353	.	167	Q08379	GOGA2_HUMAN	V	167;194	ENSP00000416097:A167V;ENSP00000409271:A194V	ENSP00000416097:A167V	A	-	2	0	GOLGA2	130069355	1.000000	0.71417	0.553000	0.28255	0.717000	0.41224	6.101000	0.71479	0.678000	0.31325	0.650000	0.86243	GCG		0.522	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		29	36	0	0	0	1	0	29	36				
CASP8AP2	9994	broad.mit.edu	37	6	90573337	90573337	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90573337G>A	ENST00000551025.1	+	0	3346									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACCAAAGGTTGCTCTTCTAGC	0.438																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							46.0	44.0	45.0					6																	90573337		1918	4129	6047			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90573337G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573337G>A										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	3346	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.438	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		11	12	0	0	0	1	0	11	12				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070599	32070599	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:32070599G>A	ENST00000566806.1	-	0	499																											GGGCCTCAGTGAAGGTCTCCT	0.577																																						ENST00000566806.1																			0																																																			0							g.chr16:32070599G>A																													16.37:g.32070599G>A														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.577	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			13	33	0	0	0	1	0	13	33				
THSD7B	80731	broad.mit.edu	37	2	138400110	138400110	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138400110G>A	ENST00000409968.1	+	21	4030	c.3852G>A	c.(3850-3852)cgG>cgA	p.R1284R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.R1256R|THSD7B_ENST00000272643.3_Silent_p.R1287R			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1286	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAAGGACGGCCATGCCCCA	0.512																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3850-3852)cgG>cgA		thrombospondin, type I, domain containing 7B							119.0	120.0	120.0					2																	138400110		1904	4107	6011	SO:0001819	synonymous_variant	80731							g.chr2:138400110G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3852G>A	2.37:g.138400110G>A						THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.R1287R|THSD7B_ENST00000413152.2_Silent_p.R1256R	p.R1284R						BRCA - Breast invasive adenocarcinoma(221;0.19)	21	4030	+									Silent	SNP	ENST00000409968.1	37	c.3852G>A																																																																																					0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		8	96	0	0	0	1	0	8	96				
AGFG2	3268	broad.mit.edu	37	7	100153290	100153290	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100153290G>T	ENST00000300176.4	+	6	931	c.809G>T	c.(808-810)aGc>aTc	p.S270I	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	270					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGGCCCCAGCTCTTCTGTG	0.522																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(808-810)aGc>aTc		ArfGAP with FG repeats 2							135.0	126.0	129.0					7																	100153290		2203	4300	6503	SO:0001583	missense	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100153290G>T	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.809G>T	7.37:g.100153290G>T	ENSP00000300176:p.Ser270Ile					AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	p.S270I	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			6	931	+			270					O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	c.809G>T	CCDS5697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.735194|1.735194	0.30774|0.30774	.|.	.|.	ENSG00000106351|ENSG00000106351	ENST00000429987|ENST00000300176	.|T	.|0.24538	.|1.85	5.5|5.5	3.48|3.48	0.39840|0.39840	.|.	.|0.721677	.|0.14094	.|N	.|0.341794	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B	.|0.28128	.|0.201	.|B	.|0.27500	.|0.08	T|T	0.17684|0.17684	-1.0361|-1.0361	5|10	.|0.21014	.|T	.|0.42	-21.9675|-21.9675	9.5626|9.5626	0.39378|0.39378	0.0:0.1441:0.6889:0.167|0.0:0.1441:0.6889:0.167	.|.	.|270	.|O95081	.|AGFG2_HUMAN	S|I	1|270	.|ENSP00000300176:S270I	.|ENSP00000300176:S270I	A|S	+|+	1|2	0|0	AGFG2|AGFG2	99991226|99991226	0.030000|0.030000	0.19436|0.19436	0.397000|0.397000	0.26308|0.26308	0.914000|0.914000	0.54420|0.54420	2.010000|2.010000	0.40913|0.40913	1.324000|1.324000	0.45282|0.45282	0.585000|0.585000	0.79938|0.79938	GCT|AGC		0.522	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		9	143	1	0	2.62144e-13	1	3.32269e-13	9	143				
HSPA4	3308	broad.mit.edu	37	5	132424247	132424247	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132424247G>T	ENST00000304858.2	+	9	1426	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	379					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCATTGCAGGTGAATATTC	0.373																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.e9+1		heat shock 70kDa protein 4							114.0	109.0	110.0					5																	132424247		2203	4300	6503	SO:0001630	splice_region_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132424247G>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1137+1G>T	5.37:g.132424247G>T							p.Q379_splice	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1426	+			379					O95756|Q2TAL4|Q9BUK9	Splice_Site	SNP	ENST00000304858.2	37	c.1137_splice	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123397	0.94429	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01295	5.04	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	M	0.88640	2.97	0.80722	D	1	D	0.67145	0.996	D	0.81914	0.995	T	0.00057	-1.2171	10	0.87932	D	0	-11.9517	20.5373	0.99239	0.0:0.0:1.0:0.0	.	379	P34932	HSP74_HUMAN	H	379	ENSP00000302961:Q379H	ENSP00000302961:Q379H	Q	+	3	2	HSPA4	132452146	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.658000	0.83755	2.857000	0.98124	0.650000	0.86243	CAG		0.373	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	Missense_Mutation	23	61	1	0	6.44725e-10	1	7.89499e-10	23	61				
ANKRD44	91526	broad.mit.edu	37	2	197948118	197948118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197948118C>T	ENST00000328737.2	-	14	1433	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A453T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A453T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A470T|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A478T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A406T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	478										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATGCAGCGGCGTAATGCAAA	0.483																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1357-1359)Gcc>Acc		ankyrin repeat domain 44							156.0	138.0	144.0					2																	197948118		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197948118C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1357G>A	2.37:g.197948118C>T	ENSP00000331516:p.Ala453Thr					ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A478T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A470T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A406T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A453T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A453T	p.A453T			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1433	-			478					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1357G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.213360	0.95069	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;D;T;T;D;D;T;D	0.90620	-1.46;-1.56;-0.8;-0.8;-1.56;-1.56;-1.46;-2.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.85130	0.808;0.996;0.997	D	0.95813	0.8843	10	0.87932	D	0	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	406;478;496	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	T	293;470;453;453;453;153;478;406	ENSP00000403415:A293T;ENSP00000282272:A470T;ENSP00000331516:A453T;ENSP00000402420:A453T;ENSP00000338794:A453T;ENSP00000416319:A153T;ENSP00000387141:A478T;ENSP00000437825:A406T	ENSP00000282272:A470T	A	-	1	0	ANKRD44	197656363	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.651000	0.83577	2.854000	0.98071	0.655000	0.94253	GCC		0.483	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		4	74	0	0	0	1	0	4	74				
SLC29A4	222962	broad.mit.edu	37	7	5327557	5327557	+	Missense_Mutation	SNP	C	C	T	rs137876561		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5327557C>T	ENST00000396872.3	+	2	271	c.110C>T	c.(109-111)gCg>gTg	p.A37V	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A37V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A37V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	37					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GAGGAGGCGGCGGAGGCGGCT	0.667																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(109-111)gCg>gTg		solute carrier family 29 (equilibrative nucleoside transporter), member 4							22.0	23.0	23.0					7																	5327557		2201	4296	6497	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5327557C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.110C>T	7.37:g.5327557C>T	ENSP00000380081:p.Ala37Val					SLC29A4_ENST00000297195.4_Missense_Mutation_p.A37V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A37V	p.A37V	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	2	271	+		Ovarian(82;0.0175)	37					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.110C>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553895	0.27739	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.03	-0.905	0.10527	.	1.117940	0.06726	N	0.775783	T	0.32010	0.0815	L	0.57536	1.79	0.09310	N	1	B;B	0.23490	0.086;0.052	B;B	0.15870	0.014;0.003	T	0.22661	-1.0210	10	0.15952	T	0.53	-0.3847	3.5444	0.07823	0.3097:0.3327:0.0:0.3576	.	37;37	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	37	ENSP00000406803:A37V;ENSP00000380081:A37V;ENSP00000413271:A37V;ENSP00000297195:A37V;ENSP00000385845:A37V	ENSP00000297195:A37V	A	+	2	0	SLC29A4	5294083	0.061000	0.20836	0.001000	0.08648	0.024000	0.10985	-0.384000	0.07389	-0.070000	0.12908	0.484000	0.47621	GCG		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		5	27	0	0	0	1	0	5	27				
WDR62	284403	broad.mit.edu	37	19	36594735	36594735	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36594735C>T	ENST00000270301.7	+	30	3990	c.3990C>T	c.(3988-3990)agC>agT	p.S1330S	WDR62_ENST00000401500.2_Silent_p.S1335S			O43379	WDR62_HUMAN	WD repeat domain 62	1330					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAAGAGAGCGCCCTGAGGC	0.672																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(4003-4005)agC>agT		WD repeat domain 62							62.0	61.0	61.0					19																	36594735		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36594735C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3990C>T	19.37:g.36594735C>T						WDR62_ENST00000270301.7_Silent_p.S1330S	p.S1335S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		30	4040	+	Esophageal squamous(110;0.162)		1330					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.4005C>T	CCDS33001.1																																																																																				0.672	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		28	41	0	0	0	1	0	28	41				
CASZ1	54897	broad.mit.edu	37	1	10706199	10706199	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10706199G>T	ENST00000377022.3	-	17	3999	c.3682C>A	c.(3682-3684)Ctc>Atc	p.L1228I	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1228					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGGACAGAGACACTGCAGA	0.602																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(3682-3684)Ctc>Atc		castor zinc finger 1							159.0	181.0	173.0					1																	10706199		2140	4239	6379	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10706199G>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3682C>A	1.37:g.10706199G>T	ENSP00000366221:p.Leu1228Ile					RP4-734G22.3_ENST00000606802.1_RNA	p.L1228I	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	17	3999	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1228					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.3682C>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191015	0.78789	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.94	4.94	0.65067	.	0.000000	0.42172	U	0.000752	T	0.67795	0.2931	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.65492	-0.6155	9	0.33141	T	0.24	-23.4616	18.2241	0.89911	0.0:0.0:1.0:0.0	.	1228	Q86V15	CASZ1_HUMAN	I	1228	.	ENSP00000366221:L1228I	L	-	1	0	CASZ1	10628786	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.620000	0.98373	2.298000	0.77334	0.456000	0.33151	CTC		0.602	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	45	1	0	0.00909568	1	0.00947522	4	45				
CDH12	1010	broad.mit.edu	37	5	21975343	21975343	+	Missense_Mutation	SNP	C	C	T	rs371285182		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21975343C>T	ENST00000382254.1	-	6	1469	c.383G>A	c.(382-384)cGt>cAt	p.R128H	CDH12_ENST00000504376.2_Missense_Mutation_p.R128H|CDH12_ENST00000522262.1_Missense_Mutation_p.R128H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCCTGAGCACGAAGAGTGTA	0.443										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(382-384)cGt>cAt		cadherin 12, type 2 (N-cadherin 2)		C	HIS/ARG	0,4102		0,0,2051	61.0	59.0	60.0		383	5.2	1.0	5		60	1,7725		0,1,3862	no	missense	CDH12	NM_004061.3	29	0,1,5913	TT,TC,CC		0.0129,0.0,0.0085	probably-damaging	128/795	21975343	1,11827	2051	3863	5914	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975343C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.383G>A	5.37:g.21975343C>T	ENSP00000371689:p.Arg128His	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.R128H|CDH12_ENST00000504376.2_Missense_Mutation_p.R128H	p.R128H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			6	1469	-			128			Cadherin 1.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.383G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683825	0.68157	0.0	1.29E-4	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51817	0.69;0.69;0.69	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	L	0.61218	1.895	0.58432	D	0.999997	B;D	0.89917	0.134;1.0	B;P	0.62491	0.054;0.903	T	0.65134	-0.6242	10	0.46703	T	0.11	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	128;128	B7Z2U6;P55289	.;CAD12_HUMAN	H	128	ENSP00000423577:R128H;ENSP00000371689:R128H;ENSP00000428786:R128H	ENSP00000371689:R128H	R	-	2	0	CDH12	22011100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.678000	0.68153	2.414000	0.81942	0.484000	0.47621	CGT		0.443	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		32	40	0	0	0	1	0	32	40				
RAB1B	81876	broad.mit.edu	37	11	66039663	66039663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66039663C>T	ENST00000311481.6	+	3	270	c.123C>T	c.(121-123)atC>atT	p.I41I	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.I41I	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	41					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						TCAGCACCATCGGGGTGGACT	0.502																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(121-123)atC>atT		RAB1B, member RAS oncogene family							215.0	205.0	209.0					11																	66039663		2200	4295	6495	SO:0001819	synonymous_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66039663C>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.123C>T	11.37:g.66039663C>T						RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.I41I	p.I41I	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN			3	270	+			41					A8K7S1	Silent	SNP	ENST00000311481.6	37	c.123C>T	CCDS31613.1																																																																																				0.502	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		63	126	0	0	0	1	0	63	126				
PLA2G6	8398	broad.mit.edu	37	22	38516781	38516781	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38516781T>C	ENST00000332509.3	-	12	1910	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000402064.1_Missense_Mutation_p.D522G|PLA2G6_ENST00000335539.3_Missense_Mutation_p.D522G	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	576	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TTTCCTGACGTCCGTCATCTT	0.652																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1726-1728)gAc>gGc		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						96.0	84.0	88.0					22																	38516781		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38516781T>C	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1727A>G	22.37:g.38516781T>C	ENSP00000333142:p.Asp576Gly					PLA2G6_ENST00000335539.3_Missense_Mutation_p.D522G|PLA2G6_ENST00000402064.1_Missense_Mutation_p.D522G	p.D576G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			12	1910	-	Melanoma(58;0.045)		576					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1727A>G	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631630	0.87660	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.80393	-1.37;-1.37;-1.37	5.48	5.48	0.80851	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.098116	0.64402	D	0.000001	D	0.90800	0.7111	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.973	D	0.92353	0.5891	10	0.72032	D	0.01	-40.0291	15.581	0.76439	0.0:0.0:0.0:1.0	.	522;576	O60733-2;O60733	.;PA2G6_HUMAN	G	576;437;522;522	ENSP00000333142:D576G;ENSP00000335149:D522G;ENSP00000386100:D522G	ENSP00000333142:D576G	D	-	2	0	PLA2G6	36846727	1.000000	0.71417	0.960000	0.40013	0.876000	0.50452	7.272000	0.78516	2.074000	0.62210	0.459000	0.35465	GAC		0.652	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		32	55	0	0	0	1	0	32	55				
UBFD1	56061	broad.mit.edu	37	16	23570943	23570943	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23570943G>A	ENST00000395878.3	+	3	891	c.510G>A	c.(508-510)gcG>gcA	p.A170A	EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000219638.4_Silent_p.A394A|EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567212.1_Silent_p.A161A|UBFD1_ENST00000567264.1_Silent_p.A170A|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000564501.1_5'Flank	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	170							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAGATGCTGCGCAGCAGGATG	0.468																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(508-510)gcG>gcA		ubiquitin family domain containing 1							53.0	54.0	53.0					16																	23570943		1897	4120	6017	SO:0001819	synonymous_variant	56061							g.chr16:23570943G>A	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.510G>A	16.37:g.23570943G>A						UBFD1_ENST00000567212.1_Silent_p.A161A|UBFD1_ENST00000219638.4_Silent_p.A394A|UBFD1_ENST00000567264.1_Silent_p.A170A|UBFD1_ENST00000571064.1_3'UTR	p.A170A	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	3	891	+			170					A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.510G>A	CCDS10613.2																																																																																				0.468	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		4	31	0	0	0	1	0	4	31				
FRMD6	122786	broad.mit.edu	37	14	52194509	52194509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194509G>T	ENST00000344768.5	+	14	1827	c.1631G>T	c.(1630-1632)aGc>aTc	p.S544I	FRMD6_ENST00000356218.4_Missense_Mutation_p.S536I|FRMD6_ENST00000395718.2_Missense_Mutation_p.S536I|FRMD6_ENST00000554167.1_Missense_Mutation_p.S467I|FRMD6_ENST00000553556.1_Missense_Mutation_p.S186I			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	544					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CACAGCTTGAGCCTCGATGAC	0.448																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1606-1608)aGc>aTc		FERM domain containing 6							164.0	141.0	149.0					14																	52194509		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52194509G>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1631G>T	14.37:g.52194509G>T	ENSP00000343899:p.Ser544Ile					FRMD6_ENST00000344768.5_Missense_Mutation_p.S544I|FRMD6_ENST00000554167.1_Missense_Mutation_p.S467I|FRMD6_ENST00000553556.1_Missense_Mutation_p.S186I|FRMD6_ENST00000356218.4_Missense_Mutation_p.S536I	p.S536I	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			14	1892	+	all_epithelial(31;0.0163)|Breast(41;0.089)		544					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1607G>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528808	0.64860	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	D;D;D;D	0.86497	-2.13;-2.13;-1.9;-1.72	5.96	5.96	0.96718	.	0.103983	0.64402	D	0.000002	D	0.86611	0.5974	L	0.55481	1.735	0.58432	D	0.999999	B;B;B	0.33583	0.418;0.293;0.278	B;B;B	0.34489	0.184;0.062;0.173	D	0.85624	0.1266	10	0.66056	D	0.02	.	20.017	0.97481	0.0:0.0:1.0:0.0	.	467;544;536	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	I	536;536;544;467;186	ENSP00000348550:S536I;ENSP00000379068:S536I;ENSP00000343899:S544I;ENSP00000451977:S467I	ENSP00000343899:S544I	S	+	2	0	FRMD6	51264259	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.018000	0.76406	2.832000	0.97577	0.655000	0.94253	AGC		0.448	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		51	87	1	0	9.59835e-30	1	1.28499e-29	51	87				
BDH2	56898	broad.mit.edu	37	4	104017402	104017402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104017402G>A	ENST00000296424.4	-	2	130	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	4					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TTCCCATCAAGTCGACCCATA	0.423																																						ENST00000296424.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(10-12)Ctt>Ttt		3-hydroxybutyrate dehydrogenase, type 2							71.0	66.0	68.0					4																	104017402		2203	4300	6503	SO:0001583	missense	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104017402G>A	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.10C>T	4.37:g.104017402G>A	ENSP00000296424:p.Leu4Phe						p.L4F	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	2	130	-		Hepatocellular(203;0.217)	4					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	c.10C>T	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366211	0.82463	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	D;T;T	0.84146	-1.81;0.32;-1.39	4.56	4.56	0.56223	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.87609	0.6220	L	0.28776	0.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88703	0.3217	10	0.66056	D	0.02	.	14.7207	0.69302	0.0:0.0:1.0:0.0	.	4	Q9BUT1	BDH2_HUMAN	F	4	ENSP00000296424:L4F;ENSP00000427442:L4F;ENSP00000422891:L4F	ENSP00000296424:L4F	L	-	1	0	BDH2	104236851	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.224000	0.78042	2.517000	0.84864	0.650000	0.86243	CTT		0.423	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		4	9	0	0	0	1	0	4	9				
PAX8	7849	broad.mit.edu	37	2	113993142	113993142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113993142C>T	ENST00000429538.3	-	9	1110	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000348715.5_Intron|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263334.5_Intron|AC016683.6_ENST00000422956.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	306					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCTTTATGGCGAAGGGTGAG	0.592			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(916-918)Gcc>Acc		paired box 8							47.0	56.0	53.0					2																	113993142		1991	4149	6140	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113993142C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.916G>A	2.37:g.113993142C>T	ENSP00000395498:p.Ala306Thr					AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000456685.1_RNA	p.A306T	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			9	1110	-			306					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.916G>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432864	0.62844	.	.	ENSG00000125618	ENST00000429538	D	0.95980	-3.87	5.58	5.58	0.84498	.	0.174862	0.50627	D	0.000105	D	0.87390	0.6165	N	0.08118	0	0.80722	D	1	B	0.17667	0.023	B	0.06405	0.002	T	0.82550	-0.0401	9	.	.	.	.	10.4875	0.44731	0.0:0.9118:0.0:0.0882	.	306	Q06710	PAX8_HUMAN	T	306	ENSP00000395498:A306T	.	A	-	1	0	PAX8	113709613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.554000	0.45845	2.619000	0.88677	0.655000	0.94253	GCC		0.592	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			8	19	0	0	0	1	0	8	19				
SMARCB1	6598	broad.mit.edu	37	22	24135839	24135839	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24135839C>A	ENST00000263121.7	+	3	522	c.326C>A	c.(325-327)gCt>gAt	p.A109D	SMARCB1_ENST00000344921.6_Missense_Mutation_p.A100D|SMARCB1_ENST00000407422.3_Missense_Mutation_p.A100D|SMARCB1_ENST00000407082.3_Missense_Mutation_p.A109D	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	109	DNA-binding. {ECO:0000255}.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AAGTACAAGGCTGTGTCCATC	0.532			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		2	Unknown(2)	p.?(2)	soft_tissue(2)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(298-300)gCt>gAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							162.0	143.0	149.0					22																	24135839		2203	4300	6503	SO:0001583	missense	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24135839C>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.326C>A	22.37:g.24135839C>A	ENSP00000263121:p.Ala109Asp					SMARCB1_ENST00000407082.3_Missense_Mutation_p.A109D|SMARCB1_ENST00000407422.3_Missense_Mutation_p.A100D|SMARCB1_ENST00000263121.7_Missense_Mutation_p.A109D	p.A100D			Q12824	SNF5_HUMAN			3	506	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	109					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.299C>A	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657831	0.96734	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96700	0.8923	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.991;0.991;0.984;0.999	D;D;D;D;P;P;D	0.91635	0.999;0.96;0.999;0.935;0.86;0.793;0.991	D	0.96364	0.9268	10	0.54805	T	0.06	-20.5196	18.9215	0.92528	0.0:1.0:0.0:0.0	.	100;109;59;100;100;109;109	B4E117;B4DRT1;Q86WI7;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;.;SNF5_HUMAN;.	D	109;100;109;100;109	ENSP00000388489:A109D;ENSP00000340883:A100D;ENSP00000263121:A109D;ENSP00000383984:A100D;ENSP00000385226:A109D	ENSP00000263121:A109D	A	+	2	0	SMARCB1	22465839	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.818000	0.86416	2.799000	0.96334	0.644000	0.83932	GCT		0.532	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		35	65	1	0	4.34311e-12	1	5.44287e-12	35	65				
SIN3B	23309	broad.mit.edu	37	19	16973180	16973180	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16973180T>G	ENST00000248054.5	+	9	1097	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	SIN3B_ENST00000379803.1_Missense_Mutation_p.F359C|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGAACTCTTTGCACAGTTC	0.493																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1075-1077)tTt>tGt		SIN3 transcription regulator family member B							68.0	72.0	71.0					19																	16973180		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973180T>G	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1076T>G	19.37:g.16973180T>G	ENSP00000248054:p.Phe359Cys					SIN3B_ENST00000248054.5_Missense_Mutation_p.F359C	p.F359C	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			9	1090	+			359			Interaction with NCOR1 (By similarity).|PAH 3.			Missense_Mutation	SNP	ENST00000248054.5	37	c.1076T>G		.	.	.	.	.	.	.	.	.	.	T	15.81	2.943811	0.53079	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50277	0.75;0.78	4.63	4.63	0.57726	.	0.109891	0.64402	D	0.000005	T	0.70518	0.3233	M	0.85945	2.785	0.46954	D	0.999269	D;D	0.76494	0.998;0.999	D;D	0.73380	0.917;0.98	T	0.76372	-0.2983	10	0.66056	D	0.02	-18.0813	14.0086	0.64481	0.0:0.0:0.0:1.0	.	359;359	O75182-2;O75182	.;SIN3B_HUMAN	C	359	ENSP00000369131:F359C;ENSP00000248054:F359C	ENSP00000248054:F359C	F	+	2	0	SIN3B	16834180	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	3.824000	0.55723	1.721000	0.51461	0.459000	0.35465	TTT		0.493	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	45	0	0	0	1	0	4	45				
CCR9	10803	broad.mit.edu	37	3	45943196	45943196	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45943196G>A	ENST00000357632.2	+	3	1096	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.A294T|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.A294T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	306					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCAGACCATCGCCTTCTTCCA	0.502																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(916-918)Gcc>Acc		chemokine (C-C motif) receptor 9							141.0	127.0	132.0					3																	45943196		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943196G>A	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.916G>A	3.37:g.45943196G>A	ENSP00000350256:p.Ala306Thr					CCR9_ENST00000355983.2_Missense_Mutation_p.A294T|CCR9_ENST00000395963.2_Missense_Mutation_p.A294T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron	p.A306T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	1096	+			306					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.916G>A	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009881	0.93346	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.39229	1.09;1.09;1.09	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77392	-0.2605	10	0.87932	D	0	.	18.243	0.89974	0.0:0.0:1.0:0.0	.	306	P51686	CCR9_HUMAN	T	306;294;294	ENSP00000350256:A306T;ENSP00000379292:A294T;ENSP00000348260:A294T	ENSP00000348260:A294T	A	+	1	0	CCR9	45918200	1.000000	0.71417	0.909000	0.35828	0.905000	0.53344	9.756000	0.98918	2.289000	0.77006	0.563000	0.77884	GCC		0.502	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			27	40	0	0	0	1	0	27	40				
NMT2	9397	broad.mit.edu	37	10	15170447	15170447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15170447G>A	ENST00000378165.4	-	8	981	c.901C>T	c.(901-903)Cga>Tga	p.R301*	NMT2_ENST00000535341.1_Nonsense_Mutation_p.R288*|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R113*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R288*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	301					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTTAGTGATCGATGCCAGTAT	0.338																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(901-903)Cga>Tga		N-myristoyltransferase 2							75.0	80.0	78.0					10																	15170447		2202	4300	6502	SO:0001587	stop_gained	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15170447G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.901C>T	10.37:g.15170447G>A	ENSP00000367407:p.Arg301*					RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R288*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R288*|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R113*	p.R301*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			8	981	-			301					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	ENST00000378165.4	37	c.901C>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	38	7.033284	0.98017	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2366	19.5703	0.95409	0.0:0.0:1.0:0.0	.	.	.	.	X	301;288;332;113;288	.	ENSP00000367385:R332X	R	-	1	2	NMT2	15210453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.617000	0.88574	0.655000	0.94253	CGA		0.338	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		8	72	0	0	0	1	0	8	72				
FAM188B	84182	broad.mit.edu	37	7	30876364	30876364	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30876364A>G	ENST00000265299.6	+	7	1300	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	408										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCAATTGACCTCTCAGTA	0.448																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1222-1224)gAc>gGc		family with sequence similarity 188, member B							184.0	181.0	182.0					7																	30876364		2070	4214	6284	SO:0001583	missense	84182							g.chr7:30876364A>G	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1223A>G	7.37:g.30876364A>G	ENSP00000265299:p.Asp408Gly					INMT-FAM188B_ENST00000458257.1_3'UTR	p.D408G	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			7	1300	+			408					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1223A>G	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438072	0.25900	.	.	ENSG00000106125	ENST00000265299	T	0.10960	2.82	4.67	3.53	0.40419	.	0.117139	0.56097	D	0.000040	T	0.17662	0.0424	L	0.59436	1.845	0.52501	D	0.999953	D	0.59357	0.985	P	0.52598	0.703	T	0.00487	-1.1710	10	0.87932	D	0	-17.4019	8.314	0.32088	0.9043:0.0:0.0957:0.0	.	408	Q4G0A6	F188B_HUMAN	G	408	ENSP00000265299:D408G	ENSP00000265299:D408G	D	+	2	0	FAM188B	30842889	1.000000	0.71417	0.981000	0.43875	0.175000	0.22909	3.578000	0.53892	2.105000	0.64084	0.528000	0.53228	GAC		0.448	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		35	91	0	0	0	1	0	35	91				
C10orf120	399814	broad.mit.edu	37	10	124457660	124457660	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124457660G>A	ENST00000329446.4	-	3	628	c.597C>T	c.(595-597)ggC>ggT	p.G199G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	199										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGGACCCAGGCCCACCCCAG	0.483																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(595-597)ggC>ggT		chromosome 10 open reading frame 120							112.0	96.0	102.0					10																	124457660		2203	4300	6503	SO:0001819	synonymous_variant	399814							g.chr10:124457660G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.597C>T	10.37:g.124457660G>A							p.G199G	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	628	-		all_neural(114;0.169)|Glioma(114;0.222)	199					B2RU17	Silent	SNP	ENST00000329446.4	37	c.597C>T	CCDS31302.1																																																																																				0.483	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		18	24	0	0	0	1	0	18	24				
PTPN3	5774	broad.mit.edu	37	9	112166788	112166788	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112166788C>A	ENST00000374541.2	-	19	1997	c.1893G>T	c.(1891-1893)gaG>gaT	p.E631D	PTPN3_ENST00000446349.1_Missense_Mutation_p.E455D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E99D|PTPN3_ENST00000412145.1_Missense_Mutation_p.E500D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E477D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	631					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCATGGATCCCTCCAAAGTGT	0.552																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1498-1500)gaG>gaT		protein tyrosine phosphatase, non-receptor type 3							117.0	104.0	108.0					9																	112166788		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166788C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1893G>T	9.37:g.112166788C>A	ENSP00000363667:p.Glu631Asp					PTPN3_ENST00000374541.2_Missense_Mutation_p.E631D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E477D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E99D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E455D	p.E500D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			14	4053	-			631					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1500G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087566	0.55968	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.63	2.76	0.32466	.	0.095612	0.64402	D	0.000001	T	0.09423	0.0232	L	0.31926	0.97	0.41713	D	0.989465	B;B;B	0.21606	0.058;0.01;0.002	B;B;B	0.18561	0.022;0.013;0.005	T	0.17107	-1.0380	10	0.33141	T	0.24	.	7.1688	0.25706	0.1169:0.626:0.0:0.2571	.	477;586;631	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	D	631;500;455;631;99;477	ENSP00000416654:E500D;ENSP00000395384:E455D;ENSP00000363667:E631D;ENSP00000378304:E99D;ENSP00000262539:E477D	ENSP00000262539:E477D	E	-	3	2	PTPN3	111206609	0.999000	0.42202	0.999000	0.59377	0.912000	0.54170	0.715000	0.25822	0.853000	0.35312	0.561000	0.74099	GAG		0.552	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			8	57	1	0	0.27861	1	0.279982	8	57				
C1orf112	55732	broad.mit.edu	37	1	169777011	169777011	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169777011C>A	ENST00000286031.6	+	8	1343	c.643C>A	c.(643-645)Ctt>Att	p.L215I	C1orf112_ENST00000413811.2_Missense_Mutation_p.L186I|C1orf112_ENST00000456684.1_Missense_Mutation_p.L273I|C1orf112_ENST00000359326.4_Missense_Mutation_p.L215I|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	215										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGACATTCTTTTCTCCTT	0.353																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(643-645)Ctt>Att		chromosome 1 open reading frame 112							175.0	159.0	164.0					1																	169777011		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169777011C>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.643C>A	1.37:g.169777011C>A	ENSP00000286031:p.Leu215Ile					C1orf112_ENST00000413811.2_Missense_Mutation_p.L186I|C1orf112_ENST00000456684.1_Missense_Mutation_p.L273I|C1orf112_ENST00000359326.4_Missense_Mutation_p.L215I|C1orf112_ENST00000498289.1_3'UTR	p.L215I	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			8	1343	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		215					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.643C>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573942	0.65765	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T;T	0.70282	0.84;0.84;-0.47;0.84	5.91	4.02	0.46733	.	0.127728	0.51477	D	0.000084	T	0.61085	0.2319	M	0.76574	2.34	0.28341	N	0.921352	P;P	0.52842	0.944;0.956	B;P	0.49085	0.341;0.6	T	0.57917	-0.7728	10	0.45353	T	0.12	-11.1838	8.7751	0.34756	0.2719:0.6574:0.0:0.0707	.	186;215	B4E0A9;Q9NSG2	.;CA112_HUMAN	I	186;215;273;215	ENSP00000389257:L186I;ENSP00000352276:L215I;ENSP00000415583:L273I;ENSP00000286031:L215I	ENSP00000286031:L215I	L	+	1	0	C1orf112	168043635	1.000000	0.71417	0.483000	0.27378	0.996000	0.88848	1.644000	0.37228	0.824000	0.34613	0.460000	0.39030	CTT		0.353	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		16	138	1	0	4.7546e-09	1	5.74312e-09	16	138				
PLAA	9373	broad.mit.edu	37	9	26919311	26919311	+	Missense_Mutation	SNP	T	T	C	rs552555465		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26919311T>C	ENST00000397292.3	-	9	1831	c.1414A>G	c.(1414-1416)Aca>Gca	p.T472A	PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.T472A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	472					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AACTTACCTGTAAATGGATCT	0.303																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1414-1416)Aca>Gca		phospholipase A2-activating protein							76.0	75.0	75.0					9																	26919311		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26919311T>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1414A>G	9.37:g.26919311T>C	ENSP00000380460:p.Thr472Ala					PLAA_ENST00000520884.1_Missense_Mutation_p.T472A|PLAA_ENST00000520641.1_5'UTR	p.T472A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	9	1831	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	472					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1414A>G	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.431693|4.431693	0.83776|0.83776	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.67698|.	-0.28;0.03|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75627|0.75627	0.3875|0.3875	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.77086|0.77086	-0.2718|-0.2718	10|5	0.52906|.	T|.	0.07|.	.|.	15.3063|15.3063	0.73995|0.73995	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	472;472|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	A|C	472|144;21	ENSP00000380460:T472A;ENSP00000429372:T472A|.	ENSP00000380460:T472A|.	T|Y	-|-	1|2	0|0	PLAA|PLAA	26909311|26909311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.573000|7.573000	0.82421|0.82421	2.008000|2.008000	0.58898|0.58898	0.482000|0.482000	0.46254|0.46254	ACA|TAC		0.303	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		25	36	0	0	0	1	0	25	36				
GARNL3	84253	broad.mit.edu	37	9	130027191	130027191	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130027191G>T	ENST00000373387.4	+	1	387	c.35G>T	c.(34-36)aGa>aTa	p.R12I	GARNL3_ENST00000314904.5_Missense_Mutation_p.R12I|GARNL3_ENST00000435213.2_Intron	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	12					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTTGTGGCCAGATCGCTATGT	0.478																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(34-36)aGa>aTa		GTPase activating Rap/RanGAP domain-like 3							184.0	178.0	180.0					9																	130027191		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130027191G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.35G>T	9.37:g.130027191G>T	ENSP00000362485:p.Arg12Ile					GARNL3_ENST00000314904.5_Missense_Mutation_p.R12I|GARNL3_ENST00000435213.2_Intron	p.R12I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			1	387	+			12					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.35G>T	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205835	0.39003	.	.	ENSG00000136895	ENST00000314904;ENST00000373387	D;D	0.87729	-2.29;-2.26	5.44	4.54	0.55810	.	.	.	.	.	T	0.73442	0.3587	N	0.08118	0	0.35832	D	0.825395	B	0.23650	0.089	B	0.20384	0.029	T	0.70985	-0.4723	8	.	.	.	.	12.8895	0.58064	0.0792:0.0:0.9208:0.0	.	12	Q5VVW2	GARL3_HUMAN	I	12	ENSP00000313970:R12I;ENSP00000362485:R12I	.	R	+	2	0	GARNL3	129067012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.378000	0.52432	1.291000	0.44653	0.650000	0.86243	AGA		0.478	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		8	82	1	0	0.000157383	1	0.00017284	8	82				
PRKDC	5591	broad.mit.edu	37	8	48715996	48715996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715996C>A	ENST00000314191.2	-	71	9846	c.9790G>T	c.(9790-9792)Gag>Tag	p.E3264*	Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3264*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3265	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTTTTTGACTCTTTATGCAGC	0.493								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(9790-9792)Gag>Tag	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							117.0	122.0	120.0					8																	48715996		1948	4154	6102	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48715996C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9790G>T	8.37:g.48715996C>A	ENSP00000313420:p.Glu3264*					PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3264*|PRKDC_ENST00000523565.1_5'UTR	p.E3264*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			71	9846	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3265			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.9790G>T		.	.	.	.	.	.	.	.	.	.	C	50	16.285943	0.99859	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.43	5.43	0.79202	.	0.123545	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	.	.	.	X	3264	.	ENSP00000313420:E3264X	E	-	1	0	PRKDC	48878549	1.000000	0.71417	0.544000	0.28141	0.257000	0.26127	5.667000	0.68067	2.561000	0.86390	0.655000	0.94253	GAG		0.493	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		15	92	1	0	1.15088e-07	1	1.35723e-07	15	92				
PDZRN3	23024	broad.mit.edu	37	3	73433282	73433282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73433282G>A	ENST00000263666.4	-	10	2549	c.2435C>T	c.(2434-2436)aCg>aTg	p.T812M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T469M|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T529M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T469M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T534M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	812					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGATCTTCCGTGATGGAGAG	0.647																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2434-2436)aCg>aTg		PDZ domain containing ring finger 3							56.0	61.0	59.0					3																	73433282		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433282G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2435C>T	3.37:g.73433282G>A	ENSP00000263666:p.Thr812Met					PDZRN3_ENST00000466780.1_Missense_Mutation_p.T469M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T529M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T534M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T469M	p.T812M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2549	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	812					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2435C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	g	3.110	-0.182900	0.06340	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.10005	2.92;3.62;3.51;3.51;3.62	5.11	3.31	0.37934	.	1.676510	0.02934	N	0.139577	T	0.26195	0.0639	M	0.65498	2.005	0.21897	N	0.999481	D;D;P;D	0.63880	0.993;0.986;0.892;0.982	P;P;B;P	0.52710	0.707;0.628;0.34;0.549	T	0.14008	-1.0488	10	0.42905	T	0.14	.	10.4697	0.44629	0.0737:0.1341:0.7923:0.0	.	534;529;529;812	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	M	812;534;469;469;529	ENSP00000263666:T812M;ENSP00000442026:T534M;ENSP00000418168:T469M;ENSP00000418484:T469M;ENSP00000418624:T529M	ENSP00000263666:T812M	T	-	2	0	PDZRN3	73515972	0.965000	0.33210	0.993000	0.49108	0.035000	0.12851	1.671000	0.37513	0.550000	0.28991	-0.812000	0.03155	ACG		0.647	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		10	55	0	0	0	1	0	10	55				
UNC13D	201294	broad.mit.edu	37	17	73835975	73835975	+	Missense_Mutation	SNP	C	C	T	rs373019036		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73835975C>T	ENST00000207549.4	-	12	1379	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.V334I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	334	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.V334I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAAAGAGGACGGTGGCAGCC	0.667									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			1	Substitution - Missense(1)	p.V334I(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1000-1002)Gtc>Atc		unc-13 homolog D (C. elegans)		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	100.0	83.0	89.0		1000	-1.7	1.0	17		89	0,8600		0,0,4300	no	missense	UNC13D	NM_199242.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	334/1091	73835975	1,13005	2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73835975C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1000G>A	17.37:g.73835975C>T	ENSP00000207549:p.Val334Ile					UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.V334I	p.V334I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		12	1379	-			334			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1000G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	1.753	-0.488812	0.04352	2.27E-4	0.0	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.61980	0.09;0.06	4.43	-1.7	0.08159	.	0.505033	0.19627	N	0.109778	T	0.27134	0.0665	N	0.02315	-0.6	0.26740	N	0.970404	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.33240	-0.9876	10	0.02654	T	1	-14.9628	11.2271	0.48890	0.0:0.3989:0.0:0.6011	.	334;334	B4DTQ6;Q70J99	.;UN13D_HUMAN	I	334	ENSP00000207549:V334I;ENSP00000388093:V334I	ENSP00000207549:V334I	V	-	1	0	UNC13D	71347570	0.986000	0.35501	0.984000	0.44739	0.918000	0.54935	0.096000	0.15147	-0.608000	0.05731	-1.340000	0.01251	GTC		0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		14	43	0	0	0	1	0	14	43				
KIF3B	9371	broad.mit.edu	37	20	30898940	30898940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30898940C>T	ENST00000375712.3	+	2	1527	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	KIF3B_ENST00000418717.2_Missense_Mutation_p.R80W	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	454					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGGACCTGCGGCGGGAGAA	0.537																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1360-1362)Cgg>Tgg		kinesin family member 3B							59.0	68.0	65.0					20																	30898940		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898940C>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1360C>T	20.37:g.30898940C>T	ENSP00000364864:p.Arg454Trp					KIF3B_ENST00000418717.2_Missense_Mutation_p.R80W	p.R454W	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1527	+			454					B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1360C>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333471	0.60853	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.75154	-0.91;0.44	5.18	4.18	0.49190	.	0.176357	0.47455	D	0.000236	T	0.73552	0.3601	L	0.43152	1.355	0.50313	D	0.999863	D;D	0.61697	0.968;0.99	B;P	0.52343	0.432;0.696	T	0.75728	-0.3216	10	0.72032	D	0.01	.	11.0242	0.47736	0.3602:0.6398:0.0:0.0	.	80;454	B4DSR5;O15066	.;KIF3B_HUMAN	W	454;80	ENSP00000364864:R454W;ENSP00000406287:R80W	ENSP00000364864:R454W	R	+	1	2	KIF3B	30362601	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.249000	0.43169	2.699000	0.92147	0.462000	0.41574	CGG		0.537	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		4	6	0	0	0	1	0	4	6				
FANCA	2175	broad.mit.edu	37	16	89831452	89831452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89831452A>G	ENST00000389301.3	-	28	2654	c.2624T>C	c.(2623-2625)tTg>tCg	p.L875S	FANCA_ENST00000568369.1_Missense_Mutation_p.L875S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	875					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTCTGAGAACAATCTGAACAT	0.537			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2623-2625)tTg>tCg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							87.0	81.0	83.0					16																	89831452		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89831452A>G	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2624T>C	16.37:g.89831452A>G	ENSP00000373952:p.Leu875Ser					FANCA_ENST00000568369.1_Missense_Mutation_p.L875S	p.L875S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	28	2654	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	875					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.2624T>C	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017339	0.35606	.	.	ENSG00000187741	ENST00000389301	D	0.91295	-2.82	5.21	2.91	0.33838	.	0.490245	0.16718	N	0.202366	D	0.92854	0.7727	M	0.74881	2.28	0.18873	N	0.999985	D;D	0.71674	0.998;0.993	P;P	0.62649	0.905;0.844	D	0.84736	0.0748	10	0.87932	D	0	-7.5963	5.6666	0.17698	0.7267:0.1805:0.0929:0.0	.	875;875	B4DRI7;O15360	.;FANCA_HUMAN	S	875	ENSP00000373952:L875S	ENSP00000373952:L875S	L	-	2	0	FANCA	88358953	0.005000	0.15991	0.289000	0.24876	0.208000	0.24298	1.725000	0.38074	0.831000	0.34780	0.529000	0.55759	TTG		0.537	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			23	42	0	0	0	1	0	23	42				
DOCK7	85440	broad.mit.edu	37	1	63128776	63128776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63128776G>A	ENST00000340370.5	-	2	81	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	DOCK7_ENST00000404627.2_Nonsense_Mutation_p.Q22*|DOCK7_ENST00000251157.5_Nonsense_Mutation_p.Q22*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	22					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCGGAGATCTGCTTCCTAACT	0.368																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(64-66)Cag>Tag		dedicator of cytokinesis 7							158.0	152.0	154.0					1																	63128776		2203	4300	6503	SO:0001587	stop_gained	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63128776G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.64C>T	1.37:g.63128776G>A	ENSP00000340742:p.Gln22*					DOCK7_ENST00000340370.5_Nonsense_Mutation_p.Q22*|DOCK7_ENST00000404627.2_Nonsense_Mutation_p.Q22*	p.Q22*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			2	97	-			22					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	c.64C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261492	0.95368	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.4847	0.90824	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000251157:Q22X	Q	-	1	0	DOCK7	62901364	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.550000	0.90675	2.660000	0.90430	0.579000	0.79373	CAG		0.368	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		13	137	0	0	0	1	0	13	137				
PDE11A	50940	broad.mit.edu	37	2	178936974	178936974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178936974C>A	ENST00000286063.6	-	1	508	c.191G>T	c.(190-192)aGc>aTc	p.S64I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	64					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TCTGCAGGTGCTGTGAGCCAA	0.627									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(190-192)aGc>aTc		phosphodiesterase 11A							37.0	30.0	33.0					2																	178936974		2203	4299	6502	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936974C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.191G>T	2.37:g.178936974C>A	ENSP00000286063:p.Ser64Ile					PDE11A_ENST00000358450.4_Intron	p.S64I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	508	-			64					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.191G>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662137	0.29515	.	.	ENSG00000128655	ENST00000286063	T	0.68331	-0.32	4.8	0.517	0.17025	.	1.178630	0.05692	N	0.592341	T	0.52338	0.1728	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.39502	-0.9611	10	0.46703	T	0.11	.	4.8306	0.13437	0.1416:0.5029:0.2752:0.0803	.	64	Q9HCR9	PDE11_HUMAN	I	64	ENSP00000286063:S64I	ENSP00000286063:S64I	S	-	2	0	PDE11A	178645220	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	0.579000	0.23788	0.069000	0.16605	0.591000	0.81541	AGC		0.627	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			5	16	1	0	0.0215528	1	0.0221649	5	16				
FES	2242	broad.mit.edu	37	15	91437250	91437250	+	Missense_Mutation	SNP	A	A	G	rs147795278	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91437250A>G	ENST00000328850.3	+	18	2430	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	FES_ENST00000394302.1_Missense_Mutation_p.N622S|FES_ENST00000414248.2_Missense_Mutation_p.N635S|FES_ENST00000450438.2_Missense_Mutation_p.N635S|FES_ENST00000394300.3_Missense_Mutation_p.N705S|FES_ENST00000444422.2_Missense_Mutation_p.N693S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	763	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCTATCCCAACCTCAGCAAT	0.612													A|||	4	0.000798722	0.0023	0.0	5008	,	,		20193	0.0		0.001	False		,,,				2504	0.0					ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(2287-2289)aAc>aGc		feline sarcoma oncogene		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	3,4393	6.2+/-15.9	0,3,2195	189.0	203.0	198.0		2114,2078,1904,2288	5.4	1.0	15	dbSNP_134	198	0,8596		0,0,4298	yes	missense,missense,missense,missense	FES	NM_001143783.1,NM_001143784.1,NM_001143785.1,NM_002005.3	46,46,46,46	0,3,6493	GG,GA,AA		0.0,0.0682,0.0231	benign,benign,benign,benign	705/765,693/753,635/695,763/823	91437250	3,12989	2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91437250A>G	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2288A>G	15.37:g.91437250A>G	ENSP00000331504:p.Asn763Ser					FES_ENST00000444422.2_Missense_Mutation_p.N693S|FES_ENST00000394300.3_Missense_Mutation_p.N705S|FES_ENST00000394302.1_Missense_Mutation_p.N622S|FES_ENST00000450438.2_Missense_Mutation_p.N635S|FES_ENST00000414248.2_Missense_Mutation_p.N635S	p.N763S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		18	2430	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		763			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2288A>G	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735398	0.30774	6.82E-4	0.0	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.187974	0.56097	D	0.000026	T	0.49440	0.1557	L	0.43701	1.375	0.42326	D	0.992278	B;B;B;B;B;B	0.15719	0.014;0.004;0.005;0.005;0.004;0.007	B;B;B;B;B;B	0.14023	0.003;0.01;0.009;0.001;0.01;0.001	T	0.48340	-0.9044	10	0.49607	T	0.09	-56.5543	11.5154	0.50518	0.8503:0.1497:0.0:0.0	.	745;635;622;705;693;763	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	S	763;635;622;693;705;635	ENSP00000331504:N763S;ENSP00000414629:N635S;ENSP00000377839:N622S;ENSP00000400868:N693S;ENSP00000377837:N705S;ENSP00000409915:N635S	ENSP00000331504:N763S	N	+	2	0	FES	89238254	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.423000	0.44705	2.082000	0.62665	0.454000	0.30748	AAC		0.612	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		82	202	0	0	0	1	0	82	202				
CDC14A	8556	broad.mit.edu	37	1	100963754	100963754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100963754C>T	ENST00000336454.3	+	14	1767	c.1412C>T	c.(1411-1413)aCt>aTt	p.T471I	CDC14A_ENST00000361544.6_Missense_Mutation_p.T471I|CDC14A_ENST00000542213.1_Missense_Mutation_p.T413I|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.T471I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	471					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCGGGTGCCACTGTAAGAAGG	0.468																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1411-1413)aCt>aTt		cell division cycle 14A							146.0	136.0	140.0					1																	100963754		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100963754C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1412C>T	1.37:g.100963754C>T	ENSP00000336739:p.Thr471Ile					CDC14A_ENST00000544534.1_Missense_Mutation_p.T471I|CDC14A_ENST00000542213.1_Missense_Mutation_p.T413I|CDC14A_ENST00000361544.6_Missense_Mutation_p.T471I|CDC14A_ENST00000370125.2_3'UTR	p.T471I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	14	1767	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	471					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.1412C>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	5.322	0.244811	0.10077	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.09911	2.94;2.94;3.11;2.93	5.23	-1.45	0.08828	.	0.558566	0.20058	N	0.100145	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.0;0.0;0.0;0.003	B;B;B;B	0.09377	0.0;0.001;0.001;0.004	T	0.44097	-0.9350	10	0.54805	T	0.06	0.1024	6.4591	0.21946	0.6117:0.1554:0.233:0.0	.	413;471;471;471	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	I	413;471;471;471	ENSP00000442640:T413I;ENSP00000354916:T471I;ENSP00000336739:T471I;ENSP00000442543:T471I	ENSP00000336739:T471I	T	+	2	0	CDC14A	100736342	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.111000	0.15458	-0.228000	0.09869	-0.165000	0.13383	ACT		0.468	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		57	129	0	0	0	1	0	57	129				
CNGA1	1259	broad.mit.edu	37	4	47942779	47942779	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47942779C>T	ENST00000514170.1	-	10	984		c.e10+1		CNGA1_ENST00000544810.1_Splice_Site|CNGA1_ENST00000358519.4_Splice_Site|CNGA1_ENST00000420489.2_Splice_Site|CNGA1_ENST00000402813.3_Splice_Site			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1						phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AACATATTTACCTGTCCTTGT	0.294																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.e9+1		cyclic nucleotide gated channel alpha 1							65.0	61.0	62.0					4																	47942779		1822	4072	5894	SO:0001630	splice_region_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47942779C>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.664+1G>A	4.37:g.47942779C>T						CNGA1_ENST00000358519.4_Splice_Site|CNGA1_ENST00000514170.1_Splice_Site|CNGA1_ENST00000544810.1_Splice_Site|CNGA1_ENST00000420489.2_Splice_Site				P29973	CNGA1_HUMAN			9	1014	-								A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Splice_Site	SNP	ENST00000514170.1	37		CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868969	0.51588	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2395	0.93875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNGA1	47637536	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.487000	0.81328	2.546000	0.85860	0.591000	0.81541	.		0.294	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	Intron	21	33	0	0	0	1	0	21	33				
ZFP42	132625	broad.mit.edu	37	4	188924294	188924294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924294C>T	ENST00000326866.4	+	4	741	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZFP42_ENST00000509524.1_Silent_p.F111F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	111					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAAAGGTTTTCGAAGCAAGCT	0.408																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(331-333)ttC>ttT		ZFP42 zinc finger protein							80.0	86.0	84.0					4																	188924294		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924294C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.333C>T	4.37:g.188924294C>T						ZFP42_ENST00000509524.1_Silent_p.F111F	p.F111F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	741	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	111					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.333C>T	CCDS3849.1																																																																																				0.408	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		29	52	0	0	0	1	0	29	52				
MEGF8	1954	broad.mit.edu	37	19	42866664	42866664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42866664C>T	ENST00000251268.6	+	34	5973	c.5973C>T	c.(5971-5973)tgC>tgT	p.C1991C	MEGF8_ENST00000334370.4_Silent_p.C1924C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1991					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGGAACTGCTCCGAGGCTG	0.627																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5770-5772)tgC>tgT		multiple EGF-like-domains 8							102.0	90.0	94.0					19																	42866664		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866664C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5973C>T	19.37:g.42866664C>T						MEGF8_ENST00000251268.6_Silent_p.C1991C	p.C1924C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			33	6407	+		Prostate(69;0.00682)	1991			PSI 5.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.5772C>T																																																																																					0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	97	0	0	0	1	0	7	97				
RRM1	6240	broad.mit.edu	37	11	4148393	4148393	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148393A>C	ENST00000300738.5	+	14	1803	c.1599A>C	c.(1597-1599)gaA>gaC	p.E533D	RRM1_ENST00000537197.1_Missense_Mutation_p.E195D|RRM1_ENST00000423050.2_Missense_Mutation_p.E436D|RRM1_ENST00000534285.1_Missense_Mutation_p.E311D	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	533					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AGATCTTTGAAACTATTTATT	0.463																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1597-1599)gaA>gaC		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						91.0	96.0	94.0					11																	4148393		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4148393A>C	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1599A>C	11.37:g.4148393A>C	ENSP00000300738:p.Glu533Asp					RRM1_ENST00000537197.1_Missense_Mutation_p.E195D|RRM1_ENST00000534285.1_Missense_Mutation_p.E311D|RRM1_ENST00000423050.2_Missense_Mutation_p.E436D	p.E533D	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	14	1803	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	533					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1599A>C	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195240	0.58017	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.54	3.24	0.37175	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.043919	0.85682	D	0.000000	T	0.62889	0.2465	H	0.98089	4.145	0.80722	D	1	P	0.36438	0.553	B	0.38156	0.266	T	0.66077	-0.6013	10	0.87932	D	0	-17.3836	7.3341	0.26599	0.6736:0.0:0.3264:0.0	.	533	P23921	RIR1_HUMAN	D	533;436;446;311;311;195	ENSP00000300738:E533D;ENSP00000390539:E436D;ENSP00000431464:E311D;ENSP00000442148:E195D	ENSP00000300738:E533D	E	+	3	2	RRM1	4104969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.791000	0.38744	0.496000	0.27904	0.533000	0.62120	GAA		0.463	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		38	46	0	0	0	1	0	38	46				
ZNF281	23528	broad.mit.edu	37	1	200376255	200376255	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376255C>A	ENST00000294740.3	-	2	2703	c.2579G>T	c.(2578-2580)aGa>aTa	p.R860I	ZNF281_ENST00000367353.1_Missense_Mutation_p.R860I|ZNF281_ENST00000367352.3_Missense_Mutation_p.R824I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	860					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTCCTTACTCTATGGTCCAC	0.438																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2578-2580)aGa>aTa		zinc finger protein 281							119.0	123.0	121.0					1																	200376255		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376255C>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2579G>T	1.37:g.200376255C>A	ENSP00000294740:p.Arg860Ile					ZNF281_ENST00000367353.1_Missense_Mutation_p.R860I|ZNF281_ENST00000367352.3_Missense_Mutation_p.R824I	p.R860I	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2703	-			860					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2579G>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168853	0.57584	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.17854	2.25;2.25;2.29	5.61	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.29908	0.895	0.80722	D	1	B;B	0.32203	0.36;0.36	B;B	0.24269	0.052;0.052	T	0.03121	-1.1070	10	0.87932	D	0	-14.3293	15.7308	0.77804	0.1377:0.8623:0.0:0.0	.	824;860	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	860;860;824;565	ENSP00000294740:R860I;ENSP00000356322:R860I;ENSP00000356321:R824I	ENSP00000294740:R860I	R	-	2	0	ZNF281	198642878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	1.308000	0.44962	0.655000	0.94253	AGA		0.438	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		5	127	1	0	0.014758	1	0.0152625	5	127				
RSPO3	84870	broad.mit.edu	37	6	127471638	127471638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127471638C>A	ENST00000356698.4	+	3	946	c.357C>A	c.(355-357)taC>taA	p.Y119*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.Y119*|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	119					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GTGGATTTTACTTACACCTTG	0.373																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(355-357)taC>taA		R-spondin 3							113.0	109.0	111.0					6																	127471638		2203	4299	6502	SO:0001587	stop_gained	84870					extracellular region	heparin binding	g.chr6:127471638C>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.357C>A	6.37:g.127471638C>A	ENSP00000349131:p.Tyr119*					RSPO3_ENST00000368317.3_Nonsense_Mutation_p.Y119*|RSPO3_ENST00000485757.1_3'UTR	p.Y119*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	3	946	+			119					B2RC27|Q5VTV4|Q96K87	Nonsense_Mutation	SNP	ENST00000356698.4	37	c.357C>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175820	0.94807	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	.	.	.	5.73	2.97	0.34412	.	0.051875	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9049	0.47073	0.0:0.7367:0.0:0.2633	.	.	.	.	X	119	.	ENSP00000349131:Y119X	Y	+	3	2	RSPO3	127513331	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.523000	0.22925	0.895000	0.36342	-0.300000	0.09419	TAC		0.373	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		6	87	1	0	8.12818e-05	1	8.99451e-05	6	87				
ZNF185	7739	broad.mit.edu	37	X	152135744	152135744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152135744G>T	ENST00000370268.4	+	20	1867	c.1830G>T	c.(1828-1830)gaG>gaT	p.E610D	ZNF185_ENST00000454925.1_Missense_Mutation_p.E248D|ZNF185_ENST00000318504.7_Missense_Mutation_p.E551D|ZNF185_ENST00000449285.2_Missense_Mutation_p.E611D|ZNF185_ENST00000539731.1_Missense_Mutation_p.E613D|ZNF185_ENST00000535861.1_Missense_Mutation_p.E642D|ZNF185_ENST00000318529.8_Missense_Mutation_p.E389D|ZNF185_ENST00000370270.2_Missense_Mutation_p.E642D|ZNF185_ENST00000324823.6_Missense_Mutation_p.E378D			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	610						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCGCCATGGAGAAGAAGCCTC	0.493																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(1924-1926)gaG>gaT		zinc finger protein 185 (LIM domain)							113.0	108.0	110.0					X																	152135744		1952	4140	6092	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152135744G>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1830G>T	X.37:g.152135744G>T	ENSP00000359291:p.Glu610Asp					ZNF185_ENST00000539731.1_Missense_Mutation_p.E613D|ZNF185_ENST00000324823.6_Missense_Mutation_p.E378D|ZNF185_ENST00000370270.1_Missense_Mutation_p.E373D|ZNF185_ENST00000318504.7_Missense_Mutation_p.E551D|ZNF185_ENST00000318529.8_Missense_Mutation_p.E389D|ZNF185_ENST00000370268.4_Missense_Mutation_p.E610D|ZNF185_ENST00000449285.2_Missense_Mutation_p.E611D	p.E642D	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			21	1974	+	Acute lymphoblastic leukemia(192;6.56e-05)		610			LIM zinc-binding.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.1926G>T	CCDS48184.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	9.946|9.946|9.946	1.218768|1.218768|1.218768	0.22373|0.22373|0.22373	.|.|.	.|.|.	ENSG00000147394|ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270|ENST00000426821|ENST00000454925	D;D;D;D;D;D;D;D|.|.	0.82619|.|.	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63|.|.	3.66|3.66|3.66	2.78|2.78|2.78	0.32641|0.32641|0.32641	.|.|.	0.136330|0.136330|.	0.32640|0.32640|.	N|N|.	0.005832|0.005832|.	T|.|T	0.26376|.|0.26376	0.0644|.|0.0644	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;P;B;B;B;B;B;B|.|.	0.46784|.|.	0.006;0.006;0.884;0.01;0.006;0.004;0.013;0.008;0.006|.|.	B;B;P;B;B;B;B;B;B|.|.	0.46076|.|.	0.006;0.006;0.503;0.006;0.009;0.006;0.011;0.009;0.006|.|.	T|.|T	0.18241|.|0.18241	-1.0343|.|-1.0343	10|.|5	0.32370|0.56958|.	T|D|.	0.25|0.05|.	-5.9871|-5.9871|-5.9871	5.7363|5.7363|5.7363	0.18069|0.18069|0.18069	0.1514:0.0:0.8486:0.0|0.1514:0.0:0.8486:0.0|0.1514:0.0:0.8486:0.0	.|.|.	611;551;581;613;642;610;248;389;373|.|.	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2|.|.	.;.;.;.;.;ZN185_HUMAN;.;.;.|.|.	D|X|I	642;613;611;551;445;378;610;389;373|396|251	ENSP00000440847:E642D;ENSP00000444367:E613D;ENSP00000395228:E611D;ENSP00000312782:E551D;ENSP00000325307:E378D;ENSP00000359291:E610D;ENSP00000313919:E389D;ENSP00000359293:E373D|.|.	ENSP00000312782:E551D|ENSP00000409121:E396X|.	E|E|R	+|+|+	3|1|2	2|0|0	ZNF185|ZNF185|ZNF185	151886400|151886400|151886400	0.415000|0.415000|0.415000	0.25416|0.25416|0.25416	0.269000|0.269000|0.269000	0.24586|0.24586|0.24586	0.046000|0.046000|0.046000	0.14306|0.14306|0.14306	0.281000|0.281000|0.281000	0.18810|0.18810|0.18810	0.918000|0.918000|0.918000	0.36919|0.36919|0.36919	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	GAG|GAA|AGA		0.493	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		5	71	1	0	0.000602214	1	0.000649039	5	71				
LRRC8C	84230	broad.mit.edu	37	1	90178373	90178373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90178373C>T	ENST00000370454.4	+	3	499	c.244C>T	c.(244-246)Cct>Tct	p.P82S	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	82					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CACTCCACTGCCTCCACCTAA	0.478																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(244-246)Cct>Tct		leucine rich repeat containing 8 family, member C							113.0	104.0	107.0					1																	90178373		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178373C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.244C>T	1.37:g.90178373C>T	ENSP00000359483:p.Pro82Ser					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.P82S	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	499	+		all_lung(203;0.126)	82					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.244C>T	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	8.402	0.842270	0.16963	.	.	ENSG00000171488	ENST00000370454	T	0.22539	1.95	5.78	4.83	0.62350	.	0.103890	0.64402	D	0.000003	T	0.04634	0.0126	N	0.08118	0	0.43550	D	0.995854	B	0.06786	0.001	B	0.09377	0.004	T	0.29671	-1.0004	10	0.18276	T	0.48	.	13.8981	0.63785	0.2739:0.7261:0.0:0.0	.	82	Q8TDW0	LRC8C_HUMAN	S	82	ENSP00000359483:P82S	ENSP00000359483:P82S	P	+	1	0	LRRC8C	89950961	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.009000	0.49552	2.724000	0.93272	0.655000	0.94253	CCT		0.478	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		26	71	0	0	0	1	0	26	71				
RALGAPA2	57186	broad.mit.edu	37	20	20501713	20501713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20501713G>A	ENST00000202677.7	-	31	3939	c.3932C>T	c.(3931-3933)aCg>aTg	p.T1311M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1311					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGGTGTACGTGCTTGAGCC	0.527																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(3931-3933)aCg>aTg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							137.0	141.0	139.0					20																	20501713		2110	4245	6355	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20501713G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3932C>T	20.37:g.20501713G>A	ENSP00000202677:p.Thr1311Met						p.T1311M	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			31	4074	-			1311					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3932C>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.473764|2.473764	0.43942|0.43942	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|T	.|0.29917	.|1.55	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.125106	.|0.56097	.|D	.|0.000028	T|T	0.49575|0.49575	0.1565|0.1565	L|L	0.57536|0.57536	1.79|1.79	0.40160|0.40160	D|D	0.977055|0.977055	.|P;D;P	.|0.69078	.|0.955;0.997;0.88	.|P;P;B	.|0.58130	.|0.571;0.833;0.357	T|T	0.37430|0.37430	-0.9706|-0.9706	5|10	.|0.48119	.|T	.|0.1	.|.	19.9142|19.9142	0.97043|0.97043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1149;1311;1311	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	C|M	1128|1311	.|ENSP00000202677:T1311M	.|ENSP00000202677:T1311M	R|T	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20449713|20449713	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.430000|0.430000	0.31655|0.31655	7.444000|7.444000	0.80532|0.80532	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.527	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		40	61	0	0	0	1	0	40	61				
NET1	10276	broad.mit.edu	37	10	5493871	5493871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5493871G>A	ENST00000355029.4	+	4	476	c.334G>A	c.(334-336)Gct>Act	p.A112T	NET1_ENST00000380359.3_Missense_Mutation_p.A58T|NET1_ENST00000542715.1_De_novo_Start_OutOfFrame	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	112					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AAGAAATGGAGCTGTCAGACG	0.413																																						ENST00000542715.1																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23								neuroepithelial cell transforming 1							129.0	136.0	133.0					10																	5493871		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5493871G>A	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.334G>A	10.37:g.5493871G>A	ENSP00000347134:p.Ala112Thr					NET1_ENST00000355029.4_Missense_Mutation_p.A112T|NET1_ENST00000380359.3_Missense_Mutation_p.A58T				Q7Z628	ARHG8_HUMAN			0	225	+								Q12773|Q96D82|Q99903|Q9UEN6	Translation_Start_Site	SNP	ENST00000355029.4	37		CCDS41483.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331981	0.95733	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.12255	2.71;2.7	5.83	5.83	0.93111	.	0.000000	0.41712	D	0.000839	T	0.33265	0.0857	M	0.72894	2.215	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.55455	0.694;0.776	T	0.01007	-1.1483	10	0.59425	D	0.04	-16.9926	18.7012	0.91620	0.0:0.0:1.0:0.0	.	58;112	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	112;58	ENSP00000347134:A112T;ENSP00000369717:A58T	ENSP00000347134:A112T	A	+	1	0	NET1	5483871	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.479000	0.81095	2.763000	0.94921	0.563000	0.77884	GCT		0.413	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		62	91	0	0	0	1	0	62	91				
SPAG17	200162	broad.mit.edu	37	1	118584517	118584517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118584517G>T	ENST00000336338.5	-	21	3028	c.2963C>A	c.(2962-2964)cCt>cAt	p.P988H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	988						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCCTTGTAAGGTGATTTTTT	0.403																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2962-2964)cCt>cAt		sperm associated antigen 17							358.0	359.0	359.0					1																	118584517		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584517G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2963C>A	1.37:g.118584517G>T	ENSP00000337804:p.Pro988His						p.P988H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	3028	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	988					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2963C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	8.149	0.786928	0.16189	.	.	ENSG00000155761	ENST00000336338	T	0.29397	1.57	5.36	3.35	0.38373	.	0.950956	0.08813	N	0.889919	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40831	-0.9542	10	0.33141	T	0.24	.	6.4009	0.21638	0.2576:0.0:0.7424:0.0	.	988	Q6Q759	SPG17_HUMAN	H	988	ENSP00000337804:P988H	ENSP00000337804:P988H	P	-	2	0	SPAG17	118386040	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.792000	0.26929	0.611000	0.30052	0.650000	0.86243	CCT		0.403	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	384	1	0	2.17888e-05	1	2.45068e-05	10	384				
PRPF8	10594	broad.mit.edu	37	17	1561966	1561966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1561966G>A	ENST00000572621.1	-	32	5495	c.5230C>T	c.(5230-5232)Cgt>Tgt	p.R1744C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1744C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1744	Involved in interaction with pre-mRNA 5' splice site.|Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATCCGTTCACGTAACACATAC	0.498																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5230-5232)Cgt>Tgt		pre-mRNA processing factor 8							143.0	124.0	130.0					17																	1561966		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1561966G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5230C>T	17.37:g.1561966G>A	ENSP00000460348:p.Arg1744Cys					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1744C	p.R1744C			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	32	5495	-			1744			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5230C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.072289	0.76415	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.84730	-1.89	5.91	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.94686	0.8286	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95735	0.8778	10	0.87932	D	0	-1.3553	15.2115	0.73227	0.0:0.0:0.7861:0.2139	.	1744	Q6P2Q9	PRP8_HUMAN	C	1744;269	ENSP00000304350:R1744C	ENSP00000304350:R1744C	R	-	1	0	PRPF8	1508716	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.778000	0.55371	2.804000	0.96469	0.462000	0.41574	CGT		0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			18	37	0	0	0	1	0	18	37				
EPG5	57724	broad.mit.edu	37	18	43481006	43481006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43481006G>A	ENST00000282041.5	-	26	4635	c.4601C>T	c.(4600-4602)aCc>aTc	p.T1534I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1534					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CACCAGCTGGGTGGCGTCCTT	0.572																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4600-4602)aCc>aTc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							72.0	77.0	75.0					18																	43481006		2128	4246	6374	SO:0001583	missense	57724				autophagy			g.chr18:43481006G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4601C>T	18.37:g.43481006G>A	ENSP00000282041:p.Thr1534Ile					EPG5_ENST00000585906.1_5'UTR	p.T1534I	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			26	4635	-			1534					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4601C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	7.401	0.632734	0.14322	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09255	3.0	5.59	1.25	0.21368	.	.	.	.	.	T	0.05593	0.0147	N	0.24115	0.695	0.37351	D	0.910794	B	0.02656	0.0	B	0.04013	0.001	T	0.35251	-0.9796	9	0.12430	T	0.62	-0.2664	4.9744	0.14133	0.4369:0.0:0.4238:0.1393	.	1534	Q9HCE0	EPG5_HUMAN	I	1534;409	ENSP00000282041:T1534I	ENSP00000282041:T1534I	T	-	2	0	EPG5	41735004	0.999000	0.42202	0.970000	0.41538	0.988000	0.76386	1.603000	0.36794	0.309000	0.22966	0.563000	0.77884	ACC		0.572	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		28	33	0	0	0	1	0	28	33				
EPPK1	83481	broad.mit.edu	37	8	144943348	144943348	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943348C>T	ENST00000525985.1	-	2	4145	c.4074G>A	c.(4072-4074)gtG>gtA	p.V1358V				P58107	EPIPL_HUMAN	epiplakin 1	1358						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCAGCTGCACCTGCAGGA	0.677																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4072-4074)gtG>gtA		epiplakin 1							13.0	17.0	16.0					8																	144943348		1997	4153	6150	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943348C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4074G>A	8.37:g.144943348C>T							p.V1358V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4145	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1358					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.4074G>A																																																																																					0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	10	0	0	0	1	0	9	10				
PTPRN2	5799	broad.mit.edu	37	7	157370803	157370803	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370803G>A	ENST00000389418.4	-	18	2535	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	PTPRN2_ENST00000404321.2_Silent_p.I865I|PTPRN2_ENST00000389416.4_Silent_p.I825I|PTPRN2_ENST00000409483.1_Silent_p.I804I|PTPRN2_ENST00000389413.3_Silent_p.I813I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	842	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCATGACGATCACCACGC	0.592																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(2437-2439)atC>atT		protein tyrosine phosphatase, receptor type, N polypeptide 2							88.0	72.0	77.0					7																	157370803		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157370803G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2526C>T	7.37:g.157370803G>A						PTPRN2_ENST00000409483.1_Silent_p.I804I|PTPRN2_ENST00000389418.4_Silent_p.I842I|PTPRN2_ENST00000404321.2_Silent_p.I865I|PTPRN2_ENST00000389416.4_Silent_p.I825I	p.I813I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2542	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	842			Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.2439C>T	CCDS5947.1																																																																																				0.592	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			40	29	0	0	0	1	0	40	29				
EFNA3	1944	broad.mit.edu	37	1	155058919	155058919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155058919C>T	ENST00000368408.3	+	5	687	c.617C>T	c.(616-618)cCc>cTc	p.P206L	EFNA3_ENST00000418360.2_Missense_Mutation_p.P180L|EFNA3_ENST00000505139.1_Missense_Mutation_p.P201L|EFNA3_ENST00000556931.1_Missense_Mutation_p.P201L|EFNA3_ENST00000498667.1_3'UTR	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	206					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCAGGTGCCCAAGCTTGAG	0.627											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(616-618)cCc>cTc		ephrin-A3							97.0	90.0	92.0					1																	155058919		2203	4300	6503	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058919C>T	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.617C>T	1.37:g.155058919C>T	ENSP00000357393:p.Pro206Leu		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_ENST00000418360.2_Missense_Mutation_p.P180L|EFNA3_ENST00000556931.1_Missense_Mutation_p.P201L|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.P201L	p.P206L	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	687	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		206					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.617C>T	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080860	0.55753	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.96554	-4.03;-4.05;-4.02;-4.03	4.06	2.16	0.27623	.	0.134633	0.50627	D	0.000116	D	0.93963	0.8067	L	0.27053	0.805	0.58432	D	0.999996	D;B;D	0.89917	1.0;0.296;1.0	D;B;D	0.80764	0.994;0.041;0.994	D	0.93173	0.6568	10	0.66056	D	0.02	-3.5081	8.3926	0.32537	0.0:0.8141:0.0:0.1859	.	180;201;206	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	L	201;206;180;201	ENSP00000450814:P201L;ENSP00000357393:P206L;ENSP00000391370:P180L;ENSP00000426741:P201L	ENSP00000357393:P206L	P	+	2	0	RP11-540D14.8;EFNA3	153325543	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.805000	0.47939	0.473000	0.27368	0.462000	0.41574	CCC		0.627	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		42	40	0	0	0	1	0	42	40				
SLC35F4	341880	broad.mit.edu	37	14	58063577	58063577	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58063577G>T	ENST00000339762.6	-	1	38	c.39C>A	c.(37-39)acC>acA	p.T13T	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	13					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCTCCCACTGGTCAGTTTGT	0.423																																						ENST00000339762.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(37-39)acC>acA		solute carrier family 35, member F4							56.0	56.0	56.0					14																	58063577		2011	4179	6190	SO:0001819	synonymous_variant	341880							g.chr14:58063577G>T			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.39C>A	14.37:g.58063577G>T						SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000557430.1_Intron	p.T13T							1	38	-								A6NDQ3	Silent	SNP	ENST00000339762.6	37	c.39C>A																																																																																					0.423	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		6	25	1	0	0.00116845	1	0.00124821	6	25				
GALNT11	63917	broad.mit.edu	37	7	151807673	151807673	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151807673A>G	ENST00000434507.1	+	9	1460	c.1023A>G	c.(1021-1023)ggA>ggG	p.G341G	GALNT11_ENST00000430044.2_Silent_p.G341G|GALNT11_ENST00000320311.2_Silent_p.G341G|GALNT11_ENST00000452146.2_Silent_p.G260G			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	341	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGAACTTGGACAGTATGATA	0.368																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(1021-1023)ggA>ggG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							198.0	200.0	199.0					7																	151807673		2203	4300	6503	SO:0001819	synonymous_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151807673A>G	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1023A>G	7.37:g.151807673A>G						GALNT11_ENST00000320311.2_Silent_p.G341G|GALNT11_ENST00000452146.2_Silent_p.G260G|GALNT11_ENST00000430044.2_Silent_p.G341G	p.G341G			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	9	1460	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	341			Catalytic subdomain B.		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	c.1023A>G	CCDS5930.1																																																																																				0.368	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		168	131	0	0	0	1	0	168	131				
PKDREJ	10343	broad.mit.edu	37	22	46655314	46655314	+	Silent	SNP	G	G	A	rs150338973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46655314G>A	ENST00000253255.5	-	1	3905	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1302	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21037	0.0		0.0	False		,,,				2504	0.0					ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3904-3906)aaC>aaT		polycystin (PKD) family receptor for egg jelly		G		8,4398	14.3+/-33.2	0,8,2195	125.0	116.0	119.0		3906	-7.6	0.6	22	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	PKDREJ	NM_006071.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		1302/2254	46655314	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655314G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3906C>T	22.37:g.46655314G>A							p.N1302N	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3905	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1302			PLAT.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.3906C>T	CCDS14073.1																																																																																				0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		36	47	0	0	0	1	0	36	47				
TRANK1	9881	broad.mit.edu	37	3	36879871	36879871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36879871G>A	ENST00000429976.2	-	19	5624	c.5377C>T	c.(5377-5379)Ctg>Ttg	p.L1793L	TRANK1_ENST00000428977.2_Silent_p.L1243L|TRANK1_ENST00000301807.6_Silent_p.L1243L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1793							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTTTCCCAGCCTCTCGCAC	0.537																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3727-3729)Ctg>Ttg		tetratricopeptide repeat and ankyrin repeat containing 1							98.0	96.0	96.0					3																	36879871		1944	4138	6082	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36879871G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5377C>T	3.37:g.36879871G>A						TRANK1_ENST00000429976.2_Silent_p.L1793L|TRANK1_ENST00000428977.2_Silent_p.L1243L	p.L1243L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			19	5624	-			1793					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.3727C>T	CCDS46789.2																																																																																				0.537	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	60	0	0	0	1	0	5	60				
TRAK2	66008	broad.mit.edu	37	2	202272173	202272173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202272173G>T	ENST00000332624.3	-	3	667	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.S80Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	80	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGCATCAGATGCATGCTG	0.403																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(238-240)tCt>tAt		trafficking protein, kinesin binding 2							94.0	81.0	85.0					2																	202272173		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202272173G>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.239C>A	2.37:g.202272173G>T	ENSP00000328875:p.Ser80Tyr					TRAK2_ENST00000430254.1_Missense_Mutation_p.S80Y	p.S80Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			3	667	-			80					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.239C>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601915	0.46423	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18502	2.21;2.21	5.06	5.06	0.68205	.	0.534254	0.19351	N	0.116387	T	0.14960	0.0361	N	0.08118	0	0.80722	D	1	B;B	0.32010	0.225;0.351	B;B	0.39805	0.31;0.21	T	0.29549	-1.0008	10	0.62326	D	0.03	.	18.6027	0.91255	0.0:0.0:1.0:0.0	.	80;80	E7EV21;O60296	.;TRAK2_HUMAN	Y	80	ENSP00000328875:S80Y;ENSP00000409333:S80Y	ENSP00000328875:S80Y	S	-	2	0	TRAK2	201980418	0.876000	0.30132	0.898000	0.35279	0.512000	0.34134	5.030000	0.64128	2.613000	0.88420	0.563000	0.77884	TCT		0.403	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		4	35	1	0	0.00024832	1	0.0002712	4	35				
BZRAP1	9256	broad.mit.edu	37	17	56382460	56382460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56382460G>T	ENST00000343736.4	-	30	5669	c.5506C>A	c.(5506-5508)Ctg>Atg	p.L1836M	BZRAP1_ENST00000355701.3_Missense_Mutation_p.L1836M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L1776M			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1836						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCTGTCCAGGCCGCCTGCC	0.632																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(5506-5508)Ctg>Atg		benzodiazapine receptor (peripheral) associated protein 1							42.0	48.0	46.0					17																	56382460		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56382460G>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5506C>A	17.37:g.56382460G>T	ENSP00000345824:p.Leu1836Met					BZRAP1_ENST00000268893.6_Missense_Mutation_p.L1776M|BZRAP1_ENST00000343736.4_Missense_Mutation_p.L1836M	p.L1836M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			30	6376	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1836					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.5506C>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309026	0.40895	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04758	3.56;3.56;3.56	5.29	-1.49	0.08718	.	1.904240	0.02184	N	0.060766	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B;P;P;P	0.44309	0.41;0.797;0.641;0.832	B;P;B;B	0.48189	0.204;0.57;0.365;0.336	T	0.23868	-1.0176	10	0.46703	T	0.11	.	3.6628	0.08245	0.4425:0.0:0.3057:0.2518	.	1827;1776;1836;1776	B7ZVZ7;O95153-2;O95153;A7E2C5	.;.;RIMB1_HUMAN;.	M	1836;1836;1776	ENSP00000347929:L1836M;ENSP00000345824:L1836M;ENSP00000268893:L1776M	ENSP00000268893:L1776M	L	-	1	2	BZRAP1	53737459	0.004000	0.15560	0.002000	0.10522	0.735000	0.41995	0.306000	0.19279	0.152000	0.19188	0.449000	0.29647	CTG		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		4	38	1	0	4.096e-09	1	4.95403e-09	4	38				
MDGA2	161357	broad.mit.edu	37	14	47530558	47530558	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530558G>A	ENST00000399232.2	-	7	1576	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	MDGA2_ENST00000426342.1_Silent_p.I175I|MDGA2_ENST00000357362.3_Silent_p.I175I|MDGA2_ENST00000439988.3_Silent_p.I473I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	404	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAAATCAATGATGTCCAAGT	0.398																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(523-525)atC>atT		MAM domain containing glycosylphosphatidylinositol anchor 2							158.0	144.0	149.0					14																	47530558		1899	4111	6010	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530558G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1212C>T	14.37:g.47530558G>A						MDGA2_ENST00000439988.2_Silent_p.I404I|MDGA2_ENST00000357362.3_Silent_p.I175I|MDGA2_ENST00000399232.2_Silent_p.I473I	p.I175I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1271	-			404			Ig-like 2.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.525C>T		.	.	.	.	.	.	.	.	.	.	G	9.292	1.050983	0.19827	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.64	3.8	0.43715	.	.	.	.	.	T	0.59280	0.2182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56679	-0.7939	4	.	.	.	.	9.1326	0.36854	0.2291:0.0:0.7709:0.0	.	.	.	.	Y	179	.	.	H	-	1	0	MDGA2	46600308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.761000	0.68801	1.385000	0.46445	0.655000	0.94253	CAT		0.398	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		47	83	0	0	0	1	0	47	83				
DTWD2	285605	broad.mit.edu	37	5	118264322	118264322	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118264322A>G	ENST00000510708.1	-	4	540	c.507T>C	c.(505-507)gtT>gtC	p.V169V	DTWD2_ENST00000304058.4_Silent_p.V103V|DTWD2_ENST00000515439.3_Intron	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	169										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TAGAAGGATAAACAGGAGAAT	0.383																																						ENST00000304058.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13						c.(307-309)gtT>gtC		DTW domain containing 2							63.0	70.0	68.0					5																	118264322		2202	4297	6499	SO:0001819	synonymous_variant	285605							g.chr5:118264322A>G		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.507T>C	5.37:g.118264322A>G						DTWD2_ENST00000515439.3_Intron|DTWD2_ENST00000510708.1_Silent_p.V169V	p.V103V			Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	4	379	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	169						Silent	SNP	ENST00000510708.1	37	c.309T>C	CCDS34216.1																																																																																				0.383	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		8	96	0	0	0	1	0	8	96				
FAS	355	broad.mit.edu	37	10	90770572	90770572	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90770572G>T	ENST00000355279.2	+	6	568	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355740.2_Splice_Site_p.V190L|FAS_ENST00000352159.4_Splice_Site_p.V190L|FAS_ENST00000357339.2_Intron			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	AATTGTTTGGGGTAAGTTCTT	0.363																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.e6+1		Fas cell surface death receptor							248.0	222.0	231.0					10																	90770572		2203	4300	6503	SO:0001630	splice_region_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90770572G>T	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.568+1G>T	10.37:g.90770572G>T						FAS_ENST00000352159.4_Splice_Site_p.V190_splice|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Intron|FAS_ENST00000355279.2_Splice_Site_p.V190_splice	p.V190_splice	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	6	788	+		Colorectal(252;0.0161)	190					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000355279.2	37	c.568_splice	CCDS7395.1	.	.	.	.	.	.	.	.	.	.	G	6.256	0.415411	0.11870	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000355279;ENST00000371875	D;T;T	0.92699	-3.09;-0.63;-0.54	3.9	-1.43	0.08884	.	2511.060000	0.00166	N	0.000000	D	0.84370	0.5457	L	0.31664	0.95	0.09310	N	1	B;B	0.25105	0.033;0.118	B;B	0.19391	0.009;0.025	T	0.69950	-0.5006	10	0.20519	T	0.43	22.0283	2.408	0.04417	0.0938:0.2833:0.3181:0.3048	.	190;190	Q5T9P3;P25445	.;TNR6_HUMAN	L	217;190;190;190;190	ENSP00000347979:V190L;ENSP00000345601:V190L;ENSP00000347426:V190L	ENSP00000345601:V190L	V	+	1	0	FAS	90760552	0.020000	0.18652	0.007000	0.13788	0.011000	0.07611	-0.231000	0.09069	-0.270000	0.09285	-0.157000	0.13467	GTG		0.363	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2		Missense_Mutation	14	181	1	0	0.000308642	1	0.000336111	14	181				
NDUFA9	4704	broad.mit.edu	37	12	4791407	4791407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4791407C>T	ENST00000266544.5	+	9	857	c.837C>T	c.(835-837)taC>taT	p.Y279Y	NDUFA9_ENST00000540688.1_5'Flank|RP11-234B24.6_ENST00000544741.2_Silent_p.Y38Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	279					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TGGTGAAGTACATCTTTGCTG	0.428																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(835-837)taC>taT		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						292.0	254.0	267.0					12																	4791407		2203	4300	6503	SO:0001819	synonymous_variant	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4791407C>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.837C>T	12.37:g.4791407C>T						RP11-234B24.6_ENST00000544741.2_Silent_p.Y38Y	p.Y279Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			9	857	+			279					Q14076|Q2NKX0	Silent	SNP	ENST00000266544.5	37	c.837C>T	CCDS8532.1																																																																																				0.428	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		53	71	0	0	0	1	0	53	71				
EXT2	2132	broad.mit.edu	37	11	44219462	44219462	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44219462C>T	ENST00000343631.3	+	9	1518	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y	EXT2_ENST00000533608.1_Silent_p.Y463Y|EXT2_ENST00000395673.3_Silent_p.Y496Y|EXT2_ENST00000358681.4_Silent_p.Y473Y			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	463					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCCTCACCTACGACCGAGTAG	0.517			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1486-1488)taC>taT		exostosin glycosyltransferase 2							117.0	115.0	116.0					11																	44219462		2203	4299	6502	SO:0001819	synonymous_variant	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44219462C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1389C>T	11.37:g.44219462C>T						EXT2_ENST00000343631.3_Silent_p.Y463Y|EXT2_ENST00000533608.1_Silent_p.Y463Y|EXT2_ENST00000358681.4_Silent_p.Y473Y	p.Y496Y	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			9	1544	+			463					B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	ENST00000343631.3	37	c.1488C>T	CCDS7908.1																																																																																				0.517	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		23	55	0	0	0	1	0	23	55				
IGF2R	3482	broad.mit.edu	37	6	160468835	160468835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160468835C>T	ENST00000356956.1	+	17	2389	c.2241C>T	c.(2239-2241)aaC>aaT	p.N747N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	747					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAGAGGATAACTCCACCTACA	0.537																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2239-2241)aaC>aaT		insulin-like growth factor 2 receptor							100.0	91.0	94.0					6																	160468835		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468835C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2241C>T	6.37:g.160468835C>T							p.N747N	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	17	2389	+		Breast(66;0.000777)|Ovarian(120;0.0305)	747					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.2241C>T	CCDS5273.1																																																																																				0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		29	56	0	0	0	1	0	29	56				
ERCC6L2	375748	broad.mit.edu	37	9	98775028	98775028	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98775028C>A	ENST00000407474.3	+	4	1652	c.1139C>A	c.(1138-1140)aCc>aAc	p.T380N				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1410					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TTAGAAAATACCATGAAAGAC	0.423																																						ENST00000407474.3																			0											c.(1138-1140)aCc>aAc		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							59.0	61.0	60.0					9																	98775028		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98775028C>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1139C>A	9.37:g.98775028C>A	ENSP00000384365:p.Thr380Asn						p.T380N			Q5T890	RAD26_HUMAN			4	1652	+			0					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000407474.3	37	c.1139C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.43|11.43	1.635677|1.635677	0.29068|0.29068	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000320486|ENST00000407474	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.634353	.|0.14814	.|N	.|0.296878	T|T	0.51941|0.51941	0.1704|0.1704	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|D	.|0.56746	.|0.977	.|P	.|0.53593	.|0.73	T|T	0.45977|0.45977	-0.9224|-0.9224	4|8	.|0.51188	.|T	.|0.08	.|.	14.0205|14.0205	0.64550|0.64550	0.0:0.8372:0.1628:0.0|0.0:0.8372:0.1628:0.0	.|.	.|380	.|A4D997	.|CI102_HUMAN	T|N	371|380	.|.	.|ENSP00000384365:T380N	P|T	+|+	1|2	0|0	C9orf102|C9orf102	97814849|97814849	0.002000|0.002000	0.14202|0.14202	0.007000|0.007000	0.13788|0.13788	0.028000|0.028000	0.11728|0.11728	1.542000|1.542000	0.36137|0.36137	2.740000|2.740000	0.93945|0.93945	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.423	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		16	21	1	0	6.72482e-11	1	8.32712e-11	16	21				
CRACR2A	84766	broad.mit.edu	37	12	3788265	3788265	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788265C>A	ENST00000252322.1	-	6	809		c.e6-1		EFCAB4B_ENST00000440314.2_Splice_Site|EFCAB4B_ENST00000444507.1_Splice_Site	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN							activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AAGAAGTGACCTGGGGGGTGC	0.522																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e6-1		EF-hand calcium binding domain 4B							99.0	85.0	90.0					12																	3788265		2203	4300	6503	SO:0001630	splice_region_variant	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788265C>A																												ENST00000252322.1:c.341-1G>T	12.37:g.3788265C>A						EFCAB4B_ENST00000252322.1_Splice_Site|EFCAB4B_ENST00000444507.1_Splice_Site		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	814	-								B4E1X0|B9EK63	Splice_Site	SNP	ENST00000252322.1	37		CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909576	0.52439	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2754	0.60184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFCAB4B	3658526	1.000000	0.71417	0.992000	0.48379	0.594000	0.36715	4.602000	0.61098	2.176000	0.68965	0.561000	0.74099	.		0.522	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1		Intron	17	35	1	0	9.16793e-09	1	1.10245e-08	17	35				
E2F8	79733	broad.mit.edu	37	11	19246308	19246308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19246308G>A	ENST00000527884.1	-	13	2733	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T834I|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	834					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGATGAGCTGGTTGGCTTGGT	0.488																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2500-2502)aCc>aTc		E2F transcription factor 8							104.0	102.0	103.0					11																	19246308		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19246308G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2501C>T	11.37:g.19246308G>A	ENSP00000434199:p.Thr834Ile					E2F8_ENST00000250024.4_Missense_Mutation_p.T834I|RP11-428C19.4_ENST00000527978.1_RNA	p.T834I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			13	2733	-			834					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2501C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024485	0.07589	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.17691	2.26;2.26	6.07	-4.32	0.03688	.	1.405440	0.03831	N	0.269011	T	0.15176	0.0366	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38351	-0.9665	10	0.54805	T	0.06	3.4115	5.235	0.15441	0.3428:0.0:0.3681:0.2891	.	834	A0AVK6	E2F8_HUMAN	I	834	ENSP00000434199:T834I;ENSP00000250024:T834I	ENSP00000250024:T834I	T	-	2	0	E2F8	19202884	0.000000	0.05858	0.000000	0.03702	0.670000	0.39368	-0.757000	0.04772	-0.708000	0.05015	0.655000	0.94253	ACC		0.488	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		11	74	0	0	0	1	0	11	74				
PALLD	23022	broad.mit.edu	37	4	169630277	169630277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169630277G>A	ENST00000505667.1	+	9	1773	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	PALLD_ENST00000261509.6_Missense_Mutation_p.A534T|PALLD_ENST00000512127.1_Missense_Mutation_p.A152T|PALLD_ENST00000335742.7_Missense_Mutation_p.A152T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	534	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACCAGCACTGCCCAGCTGGT	0.493									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(454-456)Gcc>Acc		palladin, cytoskeletal associated protein							100.0	92.0	95.0					4																	169630277		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169630277G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1600G>A	4.37:g.169630277G>A	ENSP00000425556:p.Ala534Thr					PALLD_ENST00000261509.6_Missense_Mutation_p.A534T|PALLD_ENST00000512127.1_Missense_Mutation_p.A152T|PALLD_ENST00000505667.1_Missense_Mutation_p.A534T	p.A152T			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	9	1811	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	534					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.454G>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810507	0.70797	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.23	5.23	0.72850	.	0.000000	0.31897	U	0.006897	D	0.85182	0.5638	M	0.80616	2.505	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.992;1.0	D	0.85013	0.0907	10	0.44086	T	0.13	.	19.1657	0.93557	0.0:0.0:1.0:0.0	.	534;152;534	B7ZMM5;B3KTG2;B2RTX2	.;.;.	T	534;152;534;152	ENSP00000261509:A534T;ENSP00000336735:A152T;ENSP00000425556:A534T;ENSP00000426947:A152T	ENSP00000261509:A534T	A	+	1	0	PALLD	169866852	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	6.892000	0.75644	2.602000	0.87976	0.561000	0.74099	GCC		0.493	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		22	39	0	0	0	1	0	22	39				
UNC13B	10497	broad.mit.edu	37	9	35386236	35386236	+	Silent	SNP	A	A	G	rs150519290		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35386236A>G	ENST00000378495.3	+	23	3015	c.2793A>G	c.(2791-2793)acA>acG	p.T931T	UNC13B_ENST00000378496.4_Silent_p.T931T|UNC13B_ENST00000396787.1_Silent_p.T943T	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	931					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAACTCCACATATGAATATA	0.483																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2791-2793)acA>acG		unc-13 homolog B (C. elegans)		A		0,4406		0,0,2203	70.0	71.0	71.0		2793	2.2	1.0	9	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC13B	NM_006377.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		931/1592	35386236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35386236A>G	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2793A>G	9.37:g.35386236A>G						UNC13B_ENST00000396787.1_Silent_p.T943T|UNC13B_ENST00000378496.4_Silent_p.T931T	p.T931T	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		23	3015	+	all_epithelial(49;0.212)		931					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.2793A>G	CCDS6579.1																																																																																				0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		3	54	0	0	0	1	0	3	54				
HUWE1	10075	broad.mit.edu	37	X	53641542	53641542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53641542C>T	ENST00000342160.3	-	22	2671	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	HUWE1_ENST00000218328.8_Missense_Mutation_p.M738I|HUWE1_ENST00000262854.6_Missense_Mutation_p.M738I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	738					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAAAGCTCTGCATGGCCTGTA	0.473																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(2212-2214)atG>atA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							262.0	225.0	237.0					X																	53641542		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53641542C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2214G>A	X.37:g.53641542C>T	ENSP00000340648:p.Met738Ile					HUWE1_ENST00000262854.6_Missense_Mutation_p.M738I|HUWE1_ENST00000218328.8_Missense_Mutation_p.M738I	p.M738I			Q7Z6Z7	HUWE1_HUMAN			22	2671	-			738					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2214G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457986	0.43634	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	0.93;0.93;0.93	5.46	5.46	0.80206	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.122199	0.56097	D	0.000039	T	0.36138	0.0956	L	0.27053	0.805	0.40466	D	0.980291	B	0.23806	0.091	B	0.30495	0.116	T	0.16247	-1.0409	10	0.37606	T	0.19	.	16.9953	0.86366	0.0:1.0:0.0:0.0	.	738	Q7Z6Z7	HUWE1_HUMAN	I	738	ENSP00000340648:M738I;ENSP00000262854:M738I;ENSP00000218328:M738I	ENSP00000218328:M738I	M	-	3	0	HUWE1	53658267	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.688000	0.54699	2.275000	0.75901	0.600000	0.82982	ATG		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		44	73	0	0	0	1	0	44	73				
C5orf42	65250	broad.mit.edu	37	5	37196095	37196095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37196095G>A	ENST00000508244.1	-	20	3769	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.R1226*|C5orf42_ENST00000274258.7_Nonsense_Mutation_p.R107*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1226						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCATTCGAATCTAAAAG	0.358																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(319-321)Cga>Tga		chromosome 5 open reading frame 42							68.0	66.0	67.0					5																	37196095		2203	4300	6503	SO:0001587	stop_gained	65250							g.chr5:37196095G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3676C>T	5.37:g.37196095G>A	ENSP00000421690:p.Arg1226*					C5orf42_ENST00000425232.2_Nonsense_Mutation_p.R1226*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.R1226*	p.R107*			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		21	3906	-	all_lung(31;0.000616)		1226					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	ENST00000508244.1	37	c.319C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	58	31.088537	0.99978	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.21	4.31	0.51392	.	0.000000	0.35936	N	0.002890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1679	0.72842	0.0:0.0:0.8578:0.1422	.	.	.	.	X	1226;1226;107;274;107	.	ENSP00000274258:R107X	R	-	1	2	C5orf42	37231852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.489000	0.73641	1.271000	0.44313	0.655000	0.94253	CGA		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		21	33	0	0	0	1	0	21	33				
TBC1D4	9882	broad.mit.edu	37	13	75898492	75898492	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75898492G>T	ENST00000377636.3	-	11	2425	c.2079C>A	c.(2077-2079)tcC>tcA	p.S693S	TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Silent_p.S693S|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	693	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAGACTGGAGGAAGAATTAC	0.418																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2077-2079)tcC>tcA		TBC1 domain family, member 4							122.0	130.0	128.0					13																	75898492		1903	4113	6016	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75898492G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2079C>A	13.37:g.75898492G>T						TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Silent_p.S693S|TBC1D4_ENST00000425511.1_5'UTR	p.S693S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	11	2425	-		Prostate(6;0.014)|Breast(118;0.0982)	693			Ser-rich.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.2079C>A	CCDS41901.1																																																																																				0.418	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	64	1	0	0.00909568	1	0.00947522	4	64				
SERTAD2	9792	broad.mit.edu	37	2	64863790	64863790	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64863790G>T	ENST00000313349.3	-	2	513	c.216C>A	c.(214-216)atC>atA	p.I72I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	72	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTCCTCCTGGATCCGCCTCA	0.557																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(214-216)atC>atA		SERTA domain containing 2							108.0	110.0	109.0					2																	64863790		2203	4300	6503	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863790G>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.216C>A	2.37:g.64863790G>T						SERTAD2_ENST00000476805.1_5'UTR	p.I72I	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	513	-			72			SERTA.		Q53TS2	Silent	SNP	ENST00000313349.3	37	c.216C>A	CCDS33210.1																																																																																				0.557	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		6	74	1	0	0.0381472	1	0.0390147	6	74				
PCDHA9	9752	broad.mit.edu	37	5	140229842	140229842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140229842G>A	ENST00000532602.1	+	1	2795	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.G588S|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	588	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGCCGGCGTAGTGGT	0.677																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1762-1764)Ggc>Agc									53.0	60.0	58.0					5																	140229842		2196	4269	6465	SO:0001583	missense	0							g.chr5:140229842G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1762G>A	5.37:g.140229842G>A	ENSP00000436042:p.Gly588Ser					PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G588S|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.G588S	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2486	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1762G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519403	0.85495	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.30981	1.51;1.51	3.36	3.36	0.38483	Cadherin (3);Cadherin-like (1);	0.000000	0.32273	U	0.006330	T	0.63885	0.2549	M	0.92412	3.305	0.45837	D	0.998706	D;D	0.89917	0.994;1.0	D;D	0.91635	0.957;0.999	T	0.76296	-0.3011	10	0.87932	D	0	.	15.2417	0.73476	0.0:0.0:1.0:0.0	.	588;588	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	S	588	ENSP00000436042:G588S;ENSP00000367362:G588S	ENSP00000367362:G588S	G	+	1	0	PCDHA9	140210026	1.000000	0.71417	0.907000	0.35723	0.502000	0.33828	6.642000	0.74329	1.839000	0.53478	0.313000	0.20887	GGC		0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		4	55	0	0	0	1	0	4	55				
TMTC2	160335	broad.mit.edu	37	12	83290354	83290354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290354C>T	ENST00000321196.3	+	3	2119	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	TMTC2_ENST00000549919.1_Missense_Mutation_p.A465V|TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	471					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAAGACTGCGATCAGGAAT	0.388																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1393-1395)gCg>gTg		transmembrane and tetratricopeptide repeat containing 2							69.0	65.0	66.0					12																	83290354		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83290354C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1412C>T	12.37:g.83290354C>T	ENSP00000322300:p.Ala471Val					TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V|TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V	p.A465V			Q8N394	TMTC2_HUMAN			4	3199	+			471					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1394C>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	1.584	-0.530713	0.04112	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.58506	0.94;0.33;0.83	5.86	4.06	0.47325	.	0.050788	0.85682	D	0.000000	T	0.24044	0.0582	N	0.02192	-0.645	0.36219	D	0.851841	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.27088	-1.0084	10	0.02654	T	1	-3.4404	7.1738	0.25732	0.0:0.6373:0.0:0.3627	.	471;226;471	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	V	471;471;465;226	ENSP00000322300:A471V;ENSP00000448292:A471V;ENSP00000447609:A465V	ENSP00000322300:A471V	A	+	2	0	TMTC2	81814485	0.992000	0.36948	0.184000	0.23157	0.943000	0.58893	2.528000	0.45624	0.829000	0.34733	0.650000	0.86243	GCG		0.388	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		29	36	0	0	0	1	0	29	36				
CDC42BPG	55561	broad.mit.edu	37	11	64594754	64594754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594754G>A	ENST00000342711.5	-	33	4266	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCGCACCTGCGCTGCTGCTTC	0.677																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4267-4269)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							56.0	60.0	59.0					11																	64594754		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594754G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4267C>T	11.37:g.64594754G>A	ENSP00000345133:p.Arg1423Cys						p.R1423C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			33	4266	-			1423						Missense_Mutation	SNP	ENST00000342711.5	37	c.4267C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333777	0.81801	.	.	ENSG00000171219	ENST00000342711	T	0.74315	-0.83	4.82	4.82	0.62117	.	0.000000	0.45126	D	0.000399	D	0.84999	0.5597	M	0.81497	2.545	0.54753	D	0.999986	D	0.89917	1.0	D	0.76575	0.988	D	0.86538	0.1826	10	0.87932	D	0	.	10.9826	0.47504	0.0:0.0:0.8136:0.1864	.	1423	Q6DT37	MRCKG_HUMAN	C	1423	ENSP00000345133:R1423C	ENSP00000345133:R1423C	R	-	1	0	CDC42BPG	64351330	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.212000	0.51145	2.409000	0.81822	0.561000	0.74099	CGC		0.677	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		5	63	0	0	0	1	0	5	63				
RPRD2	23248	broad.mit.edu	37	1	150445293	150445293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445293C>T	ENST00000369068.4	+	11	3873	c.3869C>T	c.(3868-3870)tCt>tTt	p.S1290F	RPRD2_ENST00000401000.4_Missense_Mutation_p.S1264F|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1290	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCCCCTTTTCTACTCCACCC	0.622																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(3790-3792)tCt>tTt		regulation of nuclear pre-mRNA domain containing 2							56.0	60.0	59.0					1																	150445293		1970	4139	6109	SO:0001583	missense	23248						protein binding	g.chr1:150445293C>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3869C>T	1.37:g.150445293C>T	ENSP00000358064:p.Ser1290Phe					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S1290F	p.S1264F			Q5VT52	RPRD2_HUMAN			10	3856	+			1290			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3791C>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	c	2.290	-0.362663	0.05103	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.54675	0.56;0.56	4.58	1.64	0.23874	.	0.388948	0.23302	N	0.049677	T	0.17831	0.0428	N	0.19112	0.55	0.25248	N	0.989696	B;B	0.24963	0.07;0.115	B;B	0.34138	0.085;0.176	T	0.23511	-1.0186	10	0.45353	T	0.12	-0.1702	6.3839	0.21550	0.1366:0.6595:0.1315:0.0724	.	1290;1264	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	F	1264;1290	ENSP00000383785:S1264F;ENSP00000358064:S1290F	ENSP00000358064:S1290F	S	+	2	0	RPRD2	148711917	0.491000	0.26019	0.080000	0.20451	0.002000	0.02628	3.896000	0.56266	0.176000	0.19873	-0.822000	0.03109	TCT		0.622	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		4	26	0	0	0	1	0	4	26				
TFDP1	7027	broad.mit.edu	37	13	114290930	114290930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114290930C>T	ENST00000375370.5	+	10	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C	TFDP1_ENST00000538138.1_Silent_p.C212C|TFDP1_ENST00000544902.1_Silent_p.C212C	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	307	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCATGGCTTGCGGGCTGGAGT	0.517										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(919-921)tgC>tgT		transcription factor Dp-1							66.0	67.0	67.0					13																	114290930		2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290930C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.921C>T	13.37:g.114290930C>T		TSP Lung(29;0.18)				TFDP1_ENST00000538138.1_Silent_p.C212C|TFDP1_ENST00000544902.1_Silent_p.C212C	p.C307C	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1133	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	307			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.921C>T	CCDS9538.1																																																																																				0.517	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		24	26	0	0	0	1	0	24	26				
NSMCE1	197370	broad.mit.edu	37	16	27268844	27268844	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27268844C>T	ENST00000361439.4	-	2	147	c.48G>A	c.(46-48)cgG>cgA	p.R16R		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	16	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						GGAGGAAGCGCCGGTGGACAT	0.542																																						ENST00000361439.4																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(46-48)cgG>cgA		non-SMC element 1 homolog (S. cerevisiae)							91.0	96.0	94.0					16																	27268844		2121	4229	6350	SO:0001819	synonymous_variant	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27268844C>T	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.48G>A	16.37:g.27268844C>T							p.R16R	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN			2	147	-			16					D3DWF6|Q9P045|Q9P049	Silent	SNP	ENST00000361439.4	37	c.48G>A	CCDS10628.2																																																																																				0.542	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		42	47	0	0	0	1	0	42	47				
SLC6A3	6531	broad.mit.edu	37	5	1420736	1420736	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1420736T>G	ENST00000270349.9	-	6	1002	c.875A>C	c.(874-876)gAc>gCc	p.D292A	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D292A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	292					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTGATGCCGTCTATGGCTCC	0.597																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(874-876)gAc>gCc		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						137.0	116.0	123.0					5																	1420736		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1420736T>G		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.875A>C	5.37:g.1420736T>G	ENSP00000270349:p.Asp292Ala					SLC6A3_ENST00000453492.2_Missense_Mutation_p.D292A	p.D292A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		6	1002	-			292					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.875A>C	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	T	6.752	0.507677	0.12883	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.74632	-0.86;-0.86;-0.86	4.33	4.33	0.51752	.	0.131114	0.53938	D	0.000045	T	0.70020	0.3176	L	0.53617	1.68	0.52099	D	0.999943	B	0.26547	0.152	B	0.32928	0.155	T	0.67039	-0.5771	10	0.33940	T	0.23	.	11.4574	0.50189	0.0:0.0:0.0:1.0	.	292	Q01959	SC6A3_HUMAN	A	292;292;218	ENSP00000270349:D292A;ENSP00000399806:D292A;ENSP00000429101:D218A	ENSP00000270349:D292A	D	-	2	0	SLC6A3	1473736	0.992000	0.36948	0.899000	0.35326	0.162000	0.22319	4.355000	0.59424	1.588000	0.49971	0.459000	0.35465	GAC		0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		40	61	0	0	0	1	0	40	61				
TPP2	7174	broad.mit.edu	37	13	103287939	103287939	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103287939C>T	ENST00000376065.4	+	12	1432	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	TPP2_ENST00000376052.3_Silent_p.L466L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	466	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTTTAGGTCTGAAAGCTAA	0.403																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(1396-1398)Ctg>Ttg		tripeptidyl peptidase II							103.0	101.0	102.0					13																	103287939		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103287939C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1396C>T	13.37:g.103287939C>T						TPP2_ENST00000376065.4_Silent_p.L466L	p.L466L			P29144	TPP2_HUMAN			12	1412	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		466					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.1396C>T	CCDS9502.1																																																																																				0.403	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			21	34	0	0	0	1	0	21	34				
ENDOU	8909	broad.mit.edu	37	12	48110685	48110685	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110685C>T	ENST00000422538.3	-	5	661	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ENDOU_ENST00000229003.3_Missense_Mutation_p.R139H|ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000545824.2_Missense_Mutation_p.R117H|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	180					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CTTTGGGCAGCGATCCACTTG	0.483											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000422538.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						c.(538-540)cGc>cAc		endonuclease, polyU-specific							230.0	201.0	211.0					12																	48110685		2203	4300	6503	SO:0001583	missense	8909				female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity	g.chr12:48110685C>T	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.539G>A	12.37:g.48110685C>T	ENSP00000397679:p.Arg180His		OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	ENDOU_ENST00000545824.2_Missense_Mutation_p.R117H|ENDOU_ENST00000542202.1_5'UTR|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.R139H	p.R180H	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN			5	661	-			180					B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	c.539G>A	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	5.670	0.308293	0.10733	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.30448	1.53;1.53	5.91	0.822	0.18806	.	0.341599	0.35708	N	0.003036	T	0.14399	0.0348	N	0.14661	0.345	0.49051	D	0.999743	B;B;B	0.12013	0.0;0.001;0.005	B;B;B	0.06405	0.001;0.002;0.002	T	0.07635	-1.0762	10	0.40728	T	0.16	-7.4045	5.1545	0.15027	0.1275:0.5005:0.0:0.372	.	117;180;139	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	H	139;180;117	ENSP00000229003:R139H;ENSP00000397679:R180H	ENSP00000229003:R139H	R	-	2	0	ENDOU	46396952	0.000000	0.05858	0.677000	0.29947	0.414000	0.31173	-0.496000	0.06436	-0.113000	0.11958	-0.137000	0.14449	CGC		0.483	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		88	25	0	0	0	1	0	88	25				
ALMS1	7840	broad.mit.edu	37	2	73717414	73717414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717414G>A	ENST00000264448.6	+	10	8436	c.8325G>A	c.(8323-8325)atG>atA	p.M2775I	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.M2733I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2775					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTAAAATGCATAGTAATT	0.358																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8323-8325)atG>atA		Alstrom syndrome 1							63.0	61.0	61.0					2																	73717414		1809	4073	5882	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717414G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8325G>A	2.37:g.73717414G>A	ENSP00000264448:p.Met2775Ile					ALMS1_ENST00000409009.1_Missense_Mutation_p.M2733I	p.M2775I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8436	+			2775					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8325G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	0.223	-1.027106	0.02045	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05258	3.47;3.47	4.57	-1.87	0.07737	.	1.255600	0.05464	N	0.551860	T	0.01870	0.0059	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43686	-0.9376	10	0.17832	T	0.49	.	1.4069	0.02283	0.4442:0.1806:0.2391:0.1361	.	2775;2733;2775	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	2733;2775	ENSP00000386627:M2733I;ENSP00000264448:M2775I	ENSP00000264448:M2775I	M	+	3	0	ALMS1	73570922	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.263000	0.08670	-0.382000	0.07870	-0.216000	0.12614	ATG		0.358	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		18	61	0	0	0	1	0	18	61				
LAMTOR3	8649	broad.mit.edu	37	4	100805267	100805267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100805267G>A	ENST00000499666.2	-	6	445	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78C	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	85					cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Ragulator complex (GO:0071986)				endometrium(1)|large_intestine(1)|lung(1)	3						AAAGGTAAACGATTAAATTGA	0.294																																						ENST00000499666.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(253-255)Cgt>Tgt		late endosomal/lysosomal adaptor, MAPK and MTOR activator 3							55.0	60.0	58.0					4																	100805267		2203	4299	6502	SO:0001583	missense	8649				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding	g.chr4:100805267G>A	AF201947	CCDS3652.1, CCDS58920.1	4q24-q26	2012-02-28	2011-02-15	2011-02-15	ENSG00000109270	ENSG00000109270			15606	protein-coding gene	gene with protein product	"""MEK partner 1"""	603296	"""mitogen-activated protein kinase kinase 1 interacting protein 1"", ""MAPK scaffold protein 1"""	MAP2K1IP1, MAPKSP1		9733512, 15016825	Standard	NM_021970		Approved	MP1, MAPBP, Ragulator3	uc003hvg.2	Q9UHA4	OTTHUMG00000131050	ENST00000499666.2:c.253C>T	4.37:g.100805267G>A	ENSP00000424183:p.Arg85Cys					LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78C	p.R85C	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN			6	445	-			85					B2R4A1|J3KMX4|Q9H364	Missense_Mutation	SNP	ENST00000499666.2	37	c.253C>T	CCDS3652.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790480	0.50102	.	.	ENSG00000109270	ENST00000499666;ENST00000226522	.	.	.	4.85	4.85	0.62838	.	0.054326	0.85682	D	0.000000	T	0.60353	0.2262	L	0.43152	1.355	0.80722	D	1	B;D	0.71674	0.057;0.998	B;P	0.52957	0.016;0.714	T	0.61510	-0.7048	9	0.51188	T	0.08	.	14.2822	0.66221	0.0:0.0:0.8508:0.1491	.	85;85	Q53FH6;Q9UHA4	.;LTOR3_HUMAN	C	85;78	.	ENSP00000226522:R78C	R	-	1	0	LAMTOR3	101024290	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.787000	0.75099	2.676000	0.91093	0.591000	0.81541	CGT		0.294	LAMTOR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253698.2	NM_021970		16	32	0	0	0	1	0	16	32				
CD209	30835	broad.mit.edu	37	19	7809028	7809028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7809028C>T	ENST00000315599.7	-	6	1000	c.978G>A	c.(976-978)acG>acA	p.T326T	CD209_ENST00000354397.6_Silent_p.T320T|CD209_ENST00000301357.8_Silent_p.T190T|CD209_ENST00000601951.1_Silent_p.T302T|CD209_ENST00000315591.8_Silent_p.T302T|CD209_ENST00000601256.1_Intron|CD209_ENST00000593821.1_Silent_p.T190T|CD209_ENST00000593660.1_Silent_p.T256T|CD209_ENST00000602261.1_Silent_p.T234T|CD209_ENST00000394173.4_Silent_p.T165T|CD209_ENST00000204801.8_Silent_p.T282T|CD209_ENST00000394161.5_Silent_p.T90T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	326	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCATTGCCACGTGCCTTCCT	0.522																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(976-978)acG>acA		CD209 molecule							141.0	120.0	127.0					19																	7809028		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809028C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.978G>A	19.37:g.7809028C>T						CD209_ENST00000602261.1_Silent_p.T234T|CD209_ENST00000394173.4_Silent_p.T165T|CD209_ENST00000354397.6_Silent_p.T320T|CD209_ENST00000601951.1_Silent_p.T302T|CD209_ENST00000301357.8_Silent_p.T190T|CD209_ENST00000394161.5_Silent_p.T90T|CD209_ENST00000593660.1_Silent_p.T256T|CD209_ENST00000315591.8_Silent_p.T302T|CD209_ENST00000593821.1_Silent_p.T190T|CD209_ENST00000601256.1_Intron|CD209_ENST00000204801.8_Silent_p.T282T	p.T326T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			6	1000	-			326			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.978G>A	CCDS12186.1																																																																																				0.522	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		19	45	0	0	0	1	0	19	45				
RAB18	22931	broad.mit.edu	37	10	27822776	27822776	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27822776C>T	ENST00000356940.6	+	5	474	c.372C>T	c.(370-372)atC>atT	p.I124I	RAB18_ENST00000535776.1_Intron|RAB18_ENST00000375802.3_Silent_p.I79I|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	124					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						GAAATAAAATCGATAAGGTAA	0.313																																						ENST00000356940.6																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(370-372)atC>atT		RAB18, member RAS oncogene family							170.0	166.0	167.0					10																	27822776		2203	4300	6503	SO:0001819	synonymous_variant	22931				endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding	g.chr10:27822776C>T	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.372C>T	10.37:g.27822776C>T						RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Intron|RAB18_ENST00000375802.3_Silent_p.I79I	p.I124I	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN			5	474	+			124					B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Silent	SNP	ENST00000356940.6	37	c.372C>T	CCDS7155.1	.	.	.	.	.	.	.	.	.	.	C	8.708	0.911239	0.17833	.	.	ENSG00000099246	ENST00000423465	.	.	.	5.87	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4948	0.11831	0.1319:0.2168:0.0:0.6513	.	.	.	.	X	237	.	.	R	+	1	2	RAB18	27862782	0.951000	0.32395	1.000000	0.80357	0.938000	0.57974	0.008000	0.13197	0.145000	0.18977	-0.300000	0.09419	CGA		0.313	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047326.2	NM_021252		54	63	0	0	0	1	0	54	63				
ZNF772	400720	broad.mit.edu	37	19	57987134	57987134	+	Silent	SNP	G	G	A	rs140078393	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57987134G>A	ENST00000343280.4	-	3	353	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ZNF772_ENST00000425074.3_Intron|AC003005.2_ENST00000595422.1_lincRNA|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Silent_p.D31D|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Silent_p.D31D|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D31D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ACACGAACACGTCCTCAAAGT	0.567													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18179	0.0		0.001	False		,,,				2504	0.0				Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			1	Substitution - coding silent(1)	p.D31D(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(91-93)gaC>gaT		zinc finger protein 772		G	,	0,4406		0,0,2203	156.0	142.0	147.0		93,93	-5.2	0.9	19	dbSNP_134	147	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ZNF772	NM_001024596.2,NM_001144068.1	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	31/490,31/449	57987134	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57987134G>A	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.93C>T	19.37:g.57987134G>A						ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Silent_p.D31D|AC004076.9_ENST00000596831.1_Silent_p.D31D|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron	p.D31D	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	3	353	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	31			KRAB.		A6NJK9|B4DH56|B4DYS0	Silent	SNP	ENST00000343280.4	37	c.93C>T	CCDS33133.1																																																																																				0.567	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		22	34	0	0	0	1	0	22	34				
C4orf27	54969	broad.mit.edu	37	4	170671750	170671750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170671750G>T	ENST00000393381.2	-	3	410	c.335C>A	c.(334-336)cCt>cAt	p.P112H		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	112						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAACTCAGGAGGATCATAGTA	0.373																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(334-336)cCt>cAt		chromosome 4 open reading frame 27							128.0	134.0	132.0					4																	170671750		2203	4300	6503	SO:0001583	missense	54969					nucleus		g.chr4:170671750G>T	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.335C>A	4.37:g.170671750G>T	ENSP00000406598:p.Pro112His						p.P112H	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	410	-		Prostate(90;0.00601)|Renal(120;0.0183)	112						Missense_Mutation	SNP	ENST00000393381.2	37	c.335C>A	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098450	0.56183	.	.	ENSG00000056050	ENST00000393381	T	0.54071	0.59	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85443	0.1156	10	0.87932	D	0	-18.6382	18.5748	0.91150	0.0:0.0:1.0:0.0	.	112	Q9NWY4	CD027_HUMAN	H	112	ENSP00000406598:P112H	ENSP00000406598:P112H	P	-	2	0	C4orf27	170908325	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	9.065000	0.93941	2.398000	0.81561	0.454000	0.30748	CCT		0.373	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		7	189	1	0	0.000157383	1	0.00017284	7	189				
TMEM145	284339	broad.mit.edu	37	19	42827796	42827796	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42827796T>C	ENST00000301204.3	+	14	1297	c.1256T>C	c.(1255-1257)aTc>aCc	p.I419T	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	419					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACGTCGCAGATCGCTTCAGCC	0.627																																						ENST00000301204.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1255-1257)aTc>aCc		transmembrane protein 145							82.0	67.0	72.0					19																	42827796		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42827796T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1256T>C	19.37:g.42827796T>C	ENSP00000301204:p.Ile419Thr						p.I419T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN			14	1297	+		Prostate(69;0.00682)	419						Missense_Mutation	SNP	ENST00000301204.3	37	c.1256T>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334929	0.60853	.	.	ENSG00000167619	ENST00000301204	T	0.55588	0.51	4.83	4.83	0.62350	.	0.137233	0.45867	D	0.000326	T	0.62551	0.2437	L	0.55990	1.75	0.58432	D	0.999993	P	0.50156	0.932	P	0.58520	0.84	T	0.62909	-0.6754	10	0.45353	T	0.12	-12.3464	12.6502	0.56757	0.0:0.0:0.0:1.0	.	419	Q8NBT3	TM145_HUMAN	T	419	ENSP00000301204:I419T	ENSP00000301204:I419T	I	+	2	0	TMEM145	47519636	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.116000	0.64661	1.941000	0.56285	0.533000	0.62120	ATC		0.627	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		6	35	0	0	0	1	0	6	35				
RIC1	57589	broad.mit.edu	37	9	5765701	5765701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5765701C>T	ENST00000414202.2	+	21	3231	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R898*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1014*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R935*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R935*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTTCAGGAATCGAAGCATCAG	0.428																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(3040-3042)Cga>Tga		KIAA1432							204.0	201.0	202.0					9																	5765701		2203	4300	6503	SO:0001587	stop_gained	57589					integral to membrane		g.chr9:5765701C>T																												ENST00000414202.2:c.3040C>T	9.37:g.5765701C>T	ENSP00000416696:p.Arg1014*					KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R898*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R935*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R935*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1014*	p.R1014*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	21	3231	+		Acute lymphoblastic leukemia(23;0.154)	1014						Nonsense_Mutation	SNP	ENST00000414202.2	37	c.3040C>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.731861|7.731861	0.98459|0.98459	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.04|6.04	1.96|1.96	0.26148|0.26148	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69486	.|0.3116	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67003	.|-0.5780	.|4	0.02654|.	T|.	1|.	-12.0169|-12.0169	15.7595|15.7595	0.78067|0.78067	0.4681:0.5319:0.0:0.0|0.4681:0.5319:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1014;1014;935;935;898|905	.|.	ENSP00000251879:R1014X|.	R|S	+|+	1|2	2|0	KIAA1432|KIAA1432	5755701|5755701	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.987000|0.987000	0.75469|0.75469	5.731000|5.731000	0.68554|0.68554	0.092000|0.092000	0.17331|0.17331	-0.311000|-0.311000	0.09066|0.09066	CGA|TCG		0.428	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			15	190	0	0	0	1	0	15	190				
PRAMEF1	65121	broad.mit.edu	37	1	12854399	12854399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12854399A>G	ENST00000332296.7	+	3	726	c.623A>G	c.(622-624)cAa>cGa	p.Q208R	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	208					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGTATTCAAGAGCTGGAA	0.398																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(622-624)cAa>cGa		PRAME family member 1							355.0	328.0	337.0					1																	12854399		2203	4300	6503	SO:0001583	missense	65121							g.chr1:12854399A>G	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.623A>G	1.37:g.12854399A>G	ENSP00000332134:p.Gln208Arg						p.Q208R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	726	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	208					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.623A>G	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	9.093	1.002232	0.19121	.	.	ENSG00000116721	ENST00000332296	T	0.00995	5.46	1.74	1.74	0.24563	.	1.030830	0.07680	N	0.937059	T	0.01695	0.0054	L	0.60012	1.86	0.09310	N	0.999996	B	0.25521	0.128	B	0.34873	0.191	T	0.46105	-0.9215	10	0.44086	T	0.13	.	5.5397	0.17031	1.0:0.0:0.0:0.0	.	208	O95521	PRAM1_HUMAN	R	208	ENSP00000332134:Q208R	ENSP00000332134:Q208R	Q	+	2	0	PRAMEF1	12776986	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	1.447000	0.35101	1.048000	0.40298	0.443000	0.29094	CAA		0.398	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		30	421	0	0	0	1	0	30	421				
KIF1A	547	broad.mit.edu	37	2	241676556	241676556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241676556C>T	ENST00000320389.7	-	36	3786	c.3628G>A	c.(3628-3630)Gag>Aag	p.E1210K	KIF1A_ENST00000498729.2_Missense_Mutation_p.E1311K	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1210					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATCAGGGACTCGTCGGTCTCT	0.612																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3931-3933)Gag>Aag		kinesin family member 1A							197.0	206.0	203.0					2																	241676556		2013	4178	6191	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241676556C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3628G>A	2.37:g.241676556C>T	ENSP00000322791:p.Glu1210Lys					KIF1A_ENST00000320389.7_Missense_Mutation_p.E1210K	p.E1311K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	38	4177	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1210					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.3931G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391253	0.95988	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73258	-0.6;-0.7;-0.73	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	T	0.81103	0.4753	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.989	P;D;P	0.79108	0.829;0.992;0.607	T	0.77659	-0.2505	10	0.19590	T	0.45	.	17.6315	0.88109	0.0:1.0:0.0:0.0	.	1311;1311;1210	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	K	1210;1311;1311;1311	ENSP00000322791:E1210K;ENSP00000438388:E1311K;ENSP00000384231:E1311K	ENSP00000322791:E1210K	E	-	1	0	KIF1A	241325229	1.000000	0.71417	0.987000	0.45799	0.902000	0.53008	5.838000	0.69388	2.146000	0.66826	0.563000	0.77884	GAG		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		36	70	0	0	0	1	0	36	70				
GPATCH8	23131	broad.mit.edu	37	17	42474972	42474972	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42474972A>G	ENST00000591680.1	-	8	4503	c.4473T>C	c.(4471-4473)ggT>ggC	p.G1491G	GPATCH8_ENST00000434000.1_Silent_p.G1413G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1491							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCAGGTCCTGACCTGAGAAGA	0.602																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(4237-4239)ggT>ggC		G patch domain containing 8							75.0	67.0	70.0					17																	42474972		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42474972A>G	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4473T>C	17.37:g.42474972A>G						GPATCH8_ENST00000591680.1_Silent_p.G1491G	p.G1413G			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	4521	-		Prostate(33;0.0181)	1491					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.4239T>C	CCDS32666.1																																																																																				0.602	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		6	29	0	0	0	1	0	6	29				
FAM186B	84070	broad.mit.edu	37	12	49994230	49994230	+	Missense_Mutation	SNP	C	C	T	rs150662932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49994230C>T	ENST00000257894.2	-	4	1354	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	FAM186B_ENST00000544141.1_Missense_Mutation_p.R308H|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	398						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCTCGAGCGCACAGTCAT	0.547																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(922-924)cGc>cAc		family with sequence similarity 186, member B		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	69.0	73.0		1193	1.3	0.0	12	dbSNP_134	73	0,8600		0,0,4300	no	missense	FAM186B	NM_032130.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	398/894	49994230	1,13005	2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49994230C>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1193G>A	12.37:g.49994230C>T	ENSP00000257894:p.Arg398His					FAM186B_ENST00000257894.2_Missense_Mutation_p.R398H|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR	p.R308H			Q8IYM0	F186B_HUMAN			4	1522	-			398					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.923G>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	2.342	-0.350845	0.05173	2.27E-4	0.0	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12255	2.71;2.7;2.91	5.11	1.34	0.21922	.	1.619920	0.03635	N	0.238575	T	0.04363	0.0120	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34403	-0.9830	9	.	.	.	3.7965	3.8234	0.08845	0.1574:0.1773:0.0:0.6653	.	308;398	B4DZ15;Q8IYM0	.;F186B_HUMAN	H	308;11;398	ENSP00000438569:R308H;ENSP00000436995:R11H;ENSP00000257894:R398H	.	R	-	2	0	FAM186B	48280497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.386000	0.20702	0.125000	0.18397	-1.117000	0.02048	CGC		0.547	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		21	30	0	0	0	1	0	21	30				
CAND1	55832	broad.mit.edu	37	12	67696122	67696122	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67696122T>C	ENST00000545606.1	+	8	1457	c.1020T>C	c.(1018-1020)agT>agC	p.S340S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	340	Asp-rich.				cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATGAATACAGTGATGATGATG	0.368																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1018-1020)agT>agC		cullin-associated and neddylation-dissociated 1							188.0	181.0	183.0					12																	67696122		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67696122T>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1020T>C	12.37:g.67696122T>C							p.S340S	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	8	1457	+			340			Asp-rich.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.1020T>C	CCDS8977.1																																																																																				0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		61	101	0	0	0	1	0	61	101				
UNC93A	54346	broad.mit.edu	37	6	167721318	167721318	+	Missense_Mutation	SNP	G	G	A	rs143452023		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167721318G>A	ENST00000230256.3	+	7	1203	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301H	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGACCTCGTGCTGACCAT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20645	0.001		0.0	False		,,,				2504	0.0					ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1027-1029)cGt>cAt		unc-93 homolog A (C. elegans)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	155.0	114.0	128.0		902,1028	-0.7	0.0	6	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UNC93A	NM_001143947.1,NM_018974.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	301/416,343/458	167721318	1,13005	2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167721318G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1028G>A	6.37:g.167721318G>A	ENSP00000230256:p.Arg343His					UNC93A_ENST00000366829.2_Missense_Mutation_p.R301H	p.R343H	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	7	1203	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	343					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.1028G>A	CCDS5300.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.006	-2.086530	0.00367	0.0	1.16E-4	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.16196	2.36;2.36	4.56	-0.68	0.11346	Major facilitator superfamily domain, general substrate transporter (1);	0.362001	0.30277	N	0.009997	T	0.00695	0.0023	N	0.00176	-1.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41645	-0.9497	10	0.09843	T	0.71	-4.2485	8.4527	0.32880	0.6706:0.0:0.3294:0.0	.	301;343	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	H	343;301	ENSP00000230256:R343H;ENSP00000355794:R301H	ENSP00000230256:R343H	R	+	2	0	UNC93A	167641308	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.672000	0.37523	-0.403000	0.07622	-0.471000	0.05019	CGT		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		22	48	0	0	0	1	0	22	48				
AVPR1B	553	broad.mit.edu	37	1	206225082	206225082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206225082G>A	ENST00000367126.4	+	1	1107	c.642G>A	c.(640-642)atG>atA	p.M214I	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	214					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTGACCATGCTCACGGCCT	0.617																																						ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(640-642)atG>atA		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						55.0	54.0	54.0					1																	206225082		2200	4296	6496	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206225082G>A	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.642G>A	1.37:g.206225082G>A	ENSP00000356094:p.Met214Ile						p.M214I	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	1107	+			214					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.642G>A	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	G	0.913	-0.718346	0.03182	.	.	ENSG00000198049	ENST00000367126	T	0.30714	1.52	5.66	-0.618	0.11576	GPCR, rhodopsin-like superfamily (1);	0.618333	0.17040	N	0.189346	T	0.04815	0.0130	N	0.00191	-1.88	0.34303	D	0.68456	B	0.02656	0.0	B	0.04013	0.001	T	0.45234	-0.9275	10	0.02654	T	1	-11.4315	6.1201	0.20148	0.3419:0.2915:0.3665:0.0	.	214	P47901	V1BR_HUMAN	I	214	ENSP00000356094:M214I	ENSP00000356094:M214I	M	+	3	0	AVPR1B	204391705	0.137000	0.22531	0.987000	0.45799	0.751000	0.42716	0.037000	0.13840	0.350000	0.24002	-0.244000	0.11960	ATG		0.617	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		39	51	0	0	0	1	0	39	51				
ANKRD13A	88455	broad.mit.edu	37	12	110463620	110463620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110463620G>T	ENST00000261739.4	+	8	1041	c.875G>T	c.(874-876)aGa>aTa	p.R292I		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	292						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAAAAAAGAGATATAAAGGT	0.398																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(874-876)aGa>aTa		ankyrin repeat domain 13A							142.0	133.0	136.0					12																	110463620		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110463620G>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.875G>T	12.37:g.110463620G>T	ENSP00000261739:p.Arg292Ile						p.R292I	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			8	1041	+			292					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.875G>T	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.019210|4.019210	0.75275|0.75275	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000547639|ENST00000261738;ENST00000261739;ENST00000546476	.|T	.|0.43294	.|0.95	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69124|0.69124	0.3076|0.3076	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.73739|0.73739	-0.3888|-0.3888	5|10	.|0.87932	.|D	.|0	-26.6174|-26.6174	18.3253|18.3253	0.90251|0.90251	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|292;292	.|B4DYP5;Q8IZ07	.|.;AN13A_HUMAN	Y|I	146|77;292;63	.|ENSP00000261739:R292I	.|ENSP00000261738:R77I	D|R	+|+	1|2	0|0	ANKRD13A|ANKRD13A	108948003|108948003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.784000|0.784000	0.44337|0.44337	6.578000|6.578000	0.74032|0.74032	2.567000|2.567000	0.86603|0.86603	0.561000|0.561000	0.74099|0.74099	GAT|AGA		0.398	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		16	58	1	0	6.31663e-08	1	7.49729e-08	16	58				
TFG	10342	broad.mit.edu	37	3	100455466	100455466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100455466C>T	ENST00000240851.4	+	6	967	c.627C>T	c.(625-627)agC>agT	p.S209S	TFG_ENST00000418917.2_Silent_p.S209S|TFG_ENST00000476228.1_Silent_p.S209S|TFG_ENST00000490574.1_Silent_p.S209S	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	209					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCCGACAGCATTGCTTCCT	0.527			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(625-627)agC>agT		TRK-fused gene							96.0	86.0	89.0					3																	100455466		2203	4300	6503	SO:0001819	synonymous_variant	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100455466C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.627C>T	3.37:g.100455466C>T						TFG_ENST00000418917.2_Silent_p.S209S|TFG_ENST00000476228.1_Silent_p.S209S|TFG_ENST00000490574.1_Silent_p.S209S	p.S209S	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			6	967	+			209					D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	c.627C>T	CCDS2939.1																																																																																				0.527	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		17	22	0	0	0	1	0	17	22				
FAT3	120114	broad.mit.edu	37	11	92600234	92600234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92600234C>T	ENST00000298047.6	+	21	12003	c.11986C>T	c.(11986-11988)Ctg>Ttg	p.L3996L	FAT3_ENST00000533797.1_Silent_p.L331L|FAT3_ENST00000525166.1_Silent_p.L3846L|FAT3_ENST00000409404.2_Silent_p.L3996L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3996	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAACAATGAGCTGCCGCTGCA	0.637										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11986-11988)Ctg>Ttg		FAT atypical cadherin 3							10.0	13.0	12.0					11																	92600234		2018	4171	6189	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600234C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11986C>T	11.37:g.92600234C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.L3846L|FAT3_ENST00000409404.2_Silent_p.L3996L|FAT3_ENST00000533797.1_Silent_p.L331L	p.L3996L			Q8TDW7	FAT3_HUMAN			21	12003	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3996			Laminin G-like.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11986C>T																																																																																					0.637	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	5	0	0	0	1	0	4	5				
CNTN6	27255	broad.mit.edu	37	3	1425035	1425035	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:1425035G>T	ENST00000446702.2	+	19	3087	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	CNTN6_ENST00000539053.1_Missense_Mutation_p.E748D|CNTN6_ENST00000350110.2_Missense_Mutation_p.E820D			Q9UQ52	CNTN6_HUMAN	contactin 6	820	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAAATGGAGGTTTCATGGA	0.433																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2458-2460)gaG>gaT		contactin 6							188.0	196.0	194.0					3																	1425035		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1425035G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2460G>T	3.37:g.1425035G>T	ENSP00000407822:p.Glu820Asp					CNTN6_ENST00000350110.2_Missense_Mutation_p.E820D|CNTN6_ENST00000539053.1_Missense_Mutation_p.E748D	p.E820D			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	3087	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	820			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2460G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003486	0.54254	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.57907	0.37;0.37;0.37	5.74	0.654	0.17833	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.107770	0.41097	D	0.000957	T	0.33644	0.0870	L	0.38838	1.175	0.45307	D	0.998308	B	0.20550	0.046	B	0.22601	0.04	T	0.04693	-1.0933	10	0.23302	T	0.38	.	3.6815	0.08312	0.2511:0.104:0.5385:0.1064	.	820	Q9UQ52	CNTN6_HUMAN	D	820;748;820	ENSP00000407822:E820D;ENSP00000442791:E748D;ENSP00000341882:E820D	ENSP00000341882:E820D	E	+	3	2	CNTN6	1400035	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	0.757000	0.26433	0.381000	0.24851	-0.218000	0.12543	GAG		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		18	226	1	0	2.35188e-11	1	2.93101e-11	18	226				
ZC3H14	79882	broad.mit.edu	37	14	89039186	89039186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89039186G>A	ENST00000251038.5	+	6	921	c.696G>A	c.(694-696)ttG>ttA	p.L232L	ZC3H14_ENST00000359301.3_Silent_p.L198L|ZC3H14_ENST00000393514.5_Silent_p.L232L|ZC3H14_ENST00000555755.1_Silent_p.L232L|ZC3H14_ENST00000302216.8_Silent_p.L232L|ZC3H14_ENST00000556945.1_Silent_p.L232L|ZC3H14_ENST00000336693.4_Silent_p.L198L|ZC3H14_ENST00000557607.1_Silent_p.L77L	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	232						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TAAACAGGTTGCAATTTCAAC	0.418																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(694-696)ttG>ttA		zinc finger CCCH-type containing 14							132.0	131.0	132.0					14																	89039186		2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039186G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.696G>A	14.37:g.89039186G>A						ZC3H14_ENST00000302216.8_Silent_p.L232L|ZC3H14_ENST00000359301.3_Silent_p.L198L|ZC3H14_ENST00000555755.1_Silent_p.L232L|ZC3H14_ENST00000557607.1_Silent_p.L77L|ZC3H14_ENST00000556945.1_Silent_p.L232L|ZC3H14_ENST00000393514.5_Silent_p.L232L|ZC3H14_ENST00000336693.4_Silent_p.L198L	p.L232L	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			6	921	+			232					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.696G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	8.089	0.774159	0.16051	.	.	ENSG00000100722	ENST00000556000	.	.	.	5.92	3.08	0.35506	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30736	-0.9968	4	.	.	.	-0.1274	2.9153	0.05750	0.155:0.1424:0.5556:0.1471	.	.	.	.	Y	148	.	.	C	+	2	0	ZC3H14	88108939	0.997000	0.39634	0.917000	0.36280	0.955000	0.61496	1.029000	0.30140	0.386000	0.24997	-0.136000	0.14681	TGC		0.418	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		49	87	0	0	0	1	0	49	87				
ZNF496	84838	broad.mit.edu	37	1	247492096	247492096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492096G>T	ENST00000294753.4	-	4	927	c.463C>A	c.(463-465)Ccg>Acg	p.P155T	ZNF496_ENST00000366498.2_Missense_Mutation_p.P155T	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	155					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCTCTACCGGCAGCTGCTCC	0.602																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(463-465)Ccg>Acg		zinc finger protein 496							122.0	125.0	124.0					1																	247492096		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492096G>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.463C>A	1.37:g.247492096G>T	ENSP00000294753:p.Pro155Thr					ZNF496_ENST00000366498.2_Missense_Mutation_p.P155T	p.P155T	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		4	927	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		155					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.463C>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	4.567	0.105318	0.08731	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08008	3.14;3.18	4.7	0.664	0.17890	.	0.718967	0.12118	N	0.497894	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	B;B	0.32829	0.386;0.267	B;B	0.34242	0.178;0.027	T	0.43393	-0.9394	10	0.23891	T	0.37	-3.5585	6.3403	0.21319	0.4325:0.0:0.5675:0.0	.	155;155	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	T	155	ENSP00000294753:P155T;ENSP00000355454:P155T	ENSP00000294753:P155T	P	-	1	0	ZNF496	245558719	0.972000	0.33761	0.000000	0.03702	0.369000	0.29798	1.520000	0.35899	0.288000	0.22398	-0.291000	0.09656	CCG		0.602	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		11	167	1	0	7.03913e-09	1	8.47891e-09	11	167				
SNRNP70	6625	broad.mit.edu	37	19	49610962	49610962	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49610962G>A	ENST00000598441.1	+	9	882	c.658G>A	c.(658-660)Gat>Aat	p.D220N	SNRNP70_ENST00000221448.5_Missense_Mutation_p.D220N			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	220					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTCCCGCTACGATGAGAGGTA	0.677																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(658-660)Gat>Aat		small nuclear ribonucleoprotein 70kDa (U1)							47.0	45.0	46.0					19																	49610962		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49610962G>A		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.658G>A	19.37:g.49610962G>A	ENSP00000472998:p.Asp220Asn					SNRNP70_ENST00000598441.1_Missense_Mutation_p.D220N	p.D220N	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			9	854	+			220					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.658G>A	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887322	0.91814	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	T	0.05258	3.47	4.39	4.39	0.52855	.	0.105386	0.64402	D	0.000007	T	0.20047	0.0482	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.978;0.99	T	0.00792	-1.1564	10	0.40728	T	0.16	-19.8965	16.1071	0.81234	0.0:0.0:1.0:0.0	.	220;220	P08621;P08621-2	RU17_HUMAN;.	N	220;124	ENSP00000221448:D220N	ENSP00000221448:D220N	D	+	1	0	SNRNP70	54302774	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	8.493000	0.90474	2.173000	0.68751	0.313000	0.20887	GAT		0.677	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		21	16	0	0	0	1	0	21	16				
BTBD16	118663	broad.mit.edu	37	10	124092006	124092006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124092006G>T	ENST00000260723.4	+	13	1393	c.1142G>T	c.(1141-1143)aGa>aTa	p.R381I	BTBD16_ENST00000368994.2_Missense_Mutation_p.R382I|BTBD16_ENST00000495370.2_3'UTR	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	381										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAGGCTGTGAGATTTGGGCTG	0.517																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(1144-1146)aGa>aTa		BTB (POZ) domain containing 16							172.0	137.0	149.0					10																	124092006		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124092006G>T	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1142G>T	10.37:g.124092006G>T	ENSP00000260723:p.Arg381Ile					BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Missense_Mutation_p.R381I	p.R382I			Q32M84	BTBDG_HUMAN			13	1396	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	381					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1145G>T	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491977	0.64074	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.34667	1.35;1.35	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.59335	0.2186	M	0.67953	2.075	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60556	-0.7240	10	0.87932	D	0	-19.3089	15.5805	0.76432	0.0:0.0:1.0:0.0	.	382;381	Q32M84-2;Q32M84	.;BTBDG_HUMAN	I	381;382	ENSP00000260723:R381I;ENSP00000357990:R382I	ENSP00000260723:R381I	R	+	2	0	BTBD16	124081996	1.000000	0.71417	0.948000	0.38648	0.312000	0.27988	4.866000	0.63005	2.738000	0.93877	0.655000	0.94253	AGA		0.517	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		4	46	1	0	0.00116845	1	0.00124821	4	46				
CEP112	201134	broad.mit.edu	37	17	63898328	63898328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63898328C>T	ENST00000392769.2	-	20	2323	c.2105G>A	c.(2104-2106)cGc>cAc	p.R702H	CEP112_ENST00000537949.1_Missense_Mutation_p.R660H|CEP112_ENST00000535342.2_Missense_Mutation_p.R702H|CEP112_ENST00000541355.1_Missense_Mutation_p.R337H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	702					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTGGCAGCGCGAAGCTGTTT	0.413																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2104-2106)cGc>cAc		centrosomal protein 112kDa							155.0	131.0	139.0					17																	63898328		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63898328C>T	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2105G>A	17.37:g.63898328C>T	ENSP00000376522:p.Arg702His					CEP112_ENST00000541355.1_Missense_Mutation_p.R337H|CEP112_ENST00000535342.2_Missense_Mutation_p.R702H|CEP112_ENST00000537949.1_Missense_Mutation_p.R660H	p.R702H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			20	2323	-			702					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2105G>A	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984682	0.35036	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.6	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.61703	1.905	0.39684	D	0.97094	B;B;B	0.25667	0.131;0.131;0.131	B;B;B	0.22880	0.042;0.042;0.042	T	0.51172	-0.8739	10	0.62326	D	0.03	-1.3623	14.7678	0.69654	0.0:0.9305:0.0:0.0695	.	660;660;702	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	H	702;702;337;660	ENSP00000442784:R702H;ENSP00000376522:R702H;ENSP00000443711:R337H;ENSP00000440775:R660H	ENSP00000376522:R702H	R	-	2	0	CEP112	61328790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.078000	0.57606	1.380000	0.46344	0.650000	0.86243	CGC		0.413	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		4	52	0	0	0	1	0	4	52				
TLR1	7096	broad.mit.edu	37	4	38799508	38799508	+	Silent	SNP	C	C	T	rs185747096	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38799508C>T	ENST00000502213.2	-	3	1174	c.945G>A	c.(943-945)ccG>ccA	p.P315P	TLR1_ENST00000308979.2_Silent_p.P315P			Q15399	TLR1_HUMAN	toll-like receptor 1	315	Interaction with bacterial lipopeptide.		P -> L (severe impairment of activity; dbSNP:rs5743613). {ECO:0000269|PubMed:21618349}.		cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATAACTTTGCGGAAAACCGA	0.418													c|||	2	0.000399361	0.0	0.0	5008	,	,		19365	0.0		0.0	False		,,,				2504	0.002				GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(943-945)ccG>ccA		toll-like receptor 1							58.0	61.0	60.0					4																	38799508		2203	4300	6503	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799508C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.945G>A	4.37:g.38799508C>T						TLR1_ENST00000502213.2_Silent_p.P315P	p.P315P	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	1218	-			315		P -> L (in dbSNP:rs5743613).	Interaction with bacterial lipopeptide.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.945G>A	CCDS33973.1																																																																																				0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			21	27	0	0	0	1	0	21	27				
C17orf70	80233	broad.mit.edu	37	17	79517694	79517694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79517694G>T	ENST00000327787.8	-	3	872	c.826C>A	c.(826-828)Cat>Aat	p.H276N	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Missense_Mutation_p.H125N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	276					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCAGGTGATGGAGGATCTTG	0.577																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(373-375)Cat>Aat		chromosome 17 open reading frame 70							60.0	59.0	59.0					17																	79517694		2203	4300	6503	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517694G>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.826C>A	17.37:g.79517694G>T	ENSP00000333283:p.His276Asn					C17orf70_ENST00000327787.8_Missense_Mutation_p.H276N	p.H125N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	898	-	all_neural(118;0.0878)|Melanoma(429;0.242)		276					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.373C>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744194	0.69418	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302	T;T	0.34859	1.34;1.35	4.2	4.2	0.49525	.	0.224060	0.37955	N	0.001863	T	0.53850	0.1822	M	0.67953	2.075	0.33134	D	0.543474	D	0.67145	0.996	D	0.79784	0.993	T	0.66011	-0.6029	10	0.66056	D	0.02	.	9.2936	0.37802	0.1017:0.0:0.8983:0.0	.	276	Q0VG06	FP100_HUMAN	N	276;125;125;125	ENSP00000333283:H276N;ENSP00000440151:H125N	ENSP00000333283:H276N	H	-	1	0	C17orf70	77128136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.548000	0.60718	2.150000	0.67090	0.563000	0.77884	CAT		0.577	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		7	55	1	0	0.00198382	1	0.00210581	7	55				
ALS2CR11	151254	broad.mit.edu	37	2	202412287	202412287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202412287C>A	ENST00000286195.3	-	10	1068	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D342Y	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	342										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTAGCTTTATCTATCCATGTA	0.269																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(1024-1026)Gat>Tat		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							79.0	81.0	80.0					2																	202412287		2188	4280	6468	SO:0001583	missense	151254							g.chr2:202412287C>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1024G>T	2.37:g.202412287C>A	ENSP00000286195:p.Asp342Tyr					ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D342Y	p.D342Y	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			10	1068	-			342					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.1024G>T	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417522	0.42918	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.96	4.96	0.65561	.	0.624841	0.15605	N	0.253684	T	0.45816	0.1361	L	0.36672	1.1	0.33211	D	0.553374	D;P;D	0.61080	0.965;0.755;0.989	P;B;P	0.52066	0.66;0.367;0.689	T	0.57642	-0.7776	10	0.72032	D	0.01	.	13.908	0.63848	0.0:1.0:0.0:0.0	.	342;342;342	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	Y	342	ENSP00000286195:D342Y;ENSP00000400672:D342Y;ENSP00000409937:D342Y;ENSP00000399016:D342Y	ENSP00000286195:D342Y	D	-	1	0	ALS2CR11	202120532	0.981000	0.34729	0.929000	0.37066	0.680000	0.39746	3.252000	0.51461	2.735000	0.93741	0.563000	0.77884	GAT		0.269	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		6	15	1	0	0.000157383	1	0.00017284	6	15				
SLC28A3	64078	broad.mit.edu	37	9	86917129	86917129	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86917129C>A	ENST00000376238.4	-	5	559	c.510G>T	c.(508-510)tgG>tgT	p.W170C	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W101C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	170					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCAGCCAGAACCAATGGCTGT	0.413																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(508-510)tgG>tgT		solute carrier family 28 (concentrative nucleoside transporter), member 3							103.0	96.0	98.0					9																	86917129		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86917129C>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.510G>T	9.37:g.86917129C>A	ENSP00000365413:p.Trp170Cys					SLC28A3_ENST00000537648.1_Missense_Mutation_p.W101C	p.W170C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			5	559	-			170					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.510G>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641892	0.67244	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.01947	4.69;4.54	5.33	5.33	0.75918	.	0.061993	0.64402	D	0.000001	T	0.10551	0.0258	M	0.76328	2.33	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.58928	0.848;0.848	T	0.01386	-1.1368	10	0.39692	T	0.17	-8.3734	17.9616	0.89087	0.0:1.0:0.0:0.0	.	101;170	B4E2S8;Q9HAS3	.;S28A3_HUMAN	C	170;101	ENSP00000365413:W170C;ENSP00000446438:W101C	ENSP00000365413:W170C	W	-	3	0	SLC28A3	86106949	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.238000	0.65366	2.775000	0.95449	0.655000	0.94253	TGG		0.413	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		11	65	1	0	4.3838e-07	1	5.12524e-07	11	65				
CCDC158	339965	broad.mit.edu	37	4	77305273	77305273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77305273C>A	ENST00000388914.3	-	5	846	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CCDC158_ENST00000434846.2_Nonsense_Mutation_p.E232*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	232			E -> D (in dbSNP:rs17001889).							breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAAGAAATCTCTGTGTCTAAT	0.343																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(694-696)Gag>Tag		coiled-coil domain containing 158							43.0	41.0	41.0					4																	77305273		1820	4080	5900	SO:0001587	stop_gained	339965							g.chr4:77305273C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.694G>T	4.37:g.77305273C>A	ENSP00000373566:p.Glu232*					CCDC158_ENST00000434846.2_Nonsense_Mutation_p.E232*	p.E232*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	846	-			232		E -> D (in dbSNP:rs17001889).			Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	c.694G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818622	0.90790	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	.	.	.	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.7725	0.85542	0.0:1.0:0.0:0.0	.	.	.	.	X	232	.	ENSP00000316815:E232X	E	-	1	0	CCDC158	77524297	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.268000	0.51585	2.706000	0.92434	0.650000	0.86243	GAG		0.343	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		16	27	1	0	2.48551e-13	1	3.1506e-13	16	27				
SDCCAG8	10806	broad.mit.edu	37	1	243504455	243504455	+	Missense_Mutation	SNP	C	C	T	rs387906218		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243504455C>T	ENST00000366541.3	+	11	1454	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R301W|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R403W	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	446	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCTGGCTTCTCGGGAAATGGA	0.373																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1336-1338)Cgg>Tgg		serologically defined colon cancer antigen 8							69.0	73.0	71.0					1																	243504455		2202	4300	6502	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243504455C>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1336C>T	1.37:g.243504455C>T	ENSP00000355499:p.Arg446Trp					SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R301W|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R403W	p.R446W	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	11	1454	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	446			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1336C>T	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.394191	0.25205	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.46063	0.91;0.88;0.9;0.89	5.74	3.81	0.43845	.	0.582579	0.18933	N	0.127170	T	0.40145	0.1105	N	0.22421	0.69	0.23956	N	0.996355	D;D	0.69078	0.995;0.997	P;P	0.50708	0.528;0.648	T	0.30794	-0.9966	10	0.72032	D	0.01	0.5557	14.4983	0.67704	0.309:0.691:0.0:0.0	.	403;446	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	W	403;446;301;226	ENSP00000348137:R403W;ENSP00000355499:R446W;ENSP00000341260:R301W;ENSP00000410200:R226W	ENSP00000341260:R301W	R	+	1	2	SDCCAG8	241571078	0.994000	0.37717	0.146000	0.22360	0.092000	0.18411	2.855000	0.48333	0.682000	0.31407	0.655000	0.94253	CGG		0.373	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		21	63	0	0	0	1	0	21	63				
TLR2	7097	broad.mit.edu	37	4	154625598	154625598	+	Silent	SNP	G	G	A	rs530817992		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154625598G>A	ENST00000260010.6	+	1	2947	c.1539G>A	c.(1537-1539)acG>acA	p.T513T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	513					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CAATAACTACGTTTTCTAAGG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		21527	0.0		0.0	False		,,,				2504	0.001					ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1537-1539)acG>acA		toll-like receptor 2							61.0	64.0	63.0					4																	154625598		2203	4300	6503	SO:0001819	synonymous_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625598G>A	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1539G>A	4.37:g.154625598G>A							p.T513T	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2947	+	all_hematologic(180;0.093)	Renal(120;0.117)	513					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	c.1539G>A	CCDS3784.1																																																																																				0.393	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			30	43	0	0	0	1	0	30	43				
CHCHD2	51142	broad.mit.edu	37	7	56171941	56171941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171941G>A	ENST00000395422.3	-	2	440	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	93						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCAGGCCTCGCAGGCTCAGC	0.532																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(277-279)gCg>gTg		coiled-coil-helix-coiled-coil-helix domain containing 2							80.0	76.0	78.0					7																	56171941		2203	4300	6503	SO:0001583	missense	51142					mitochondrion		g.chr7:56171941G>A	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.278C>T	7.37:g.56171941G>A	ENSP00000378812:p.Ala93Val						p.A93V	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	440	-	Breast(14;0.214)		93					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.278C>T	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521479	0.27211	.	.	ENSG00000106153	ENST00000395422	T	0.53206	0.63	5.62	4.74	0.60224	.	0.358518	0.30930	N	0.008581	T	0.37679	0.1012	L	0.37800	1.135	0.27219	N	0.959702	P	0.38395	0.629	B	0.32090	0.14	T	0.31024	-0.9958	10	0.51188	T	0.08	.	15.8597	0.79012	0.0:0.1359:0.8641:0.0	.	93	Q9Y6H1	CHCH2_HUMAN	V	93	ENSP00000378812:A93V	ENSP00000378812:A93V	A	-	2	0	CHCHD2	56139435	0.992000	0.36948	0.037000	0.18230	0.004000	0.04260	6.303000	0.72794	1.397000	0.46682	-0.122000	0.15005	GCG		0.532	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		31	96	0	0	0	1	0	31	96				
MED28	80306	broad.mit.edu	37	4	17625336	17625336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17625336A>G	ENST00000237380.7	+	4	476	c.452A>G	c.(451-453)aAa>aGa	p.K151R		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	151					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						GTGCAGCACAAAAAGCCCGCC	0.557																																						ENST00000237380.6																			0				lung(6)|skin(2)	8						c.(451-453)aAa>aGa		mediator complex subunit 28							58.0	50.0	53.0					4																	17625336		2203	4300	6503	SO:0001583	missense	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17625336A>G	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.452A>G	4.37:g.17625336A>G	ENSP00000237380:p.Lys151Arg						p.K151R	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN			4	476	+			151					Q9BZJ5	Missense_Mutation	SNP	ENST00000237380.7	37	c.452A>G	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477007	0.44044	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	5.58	3.18	0.36537	.	0.351418	0.32459	N	0.006067	T	0.41026	0.1141	N	0.24115	0.695	0.38071	D	0.936369	B	0.09022	0.002	B	0.16289	0.015	T	0.24440	-1.0160	9	0.41790	T	0.15	.	9.6353	0.39804	0.8598:0.0:0.1402:0.0	.	151	Q9H204	MED28_HUMAN	R	151;148	.	ENSP00000237380:K151R	K	+	2	0	MED28	17234434	0.997000	0.39634	0.996000	0.52242	0.958000	0.62258	3.042000	0.49815	0.442000	0.26555	0.450000	0.29827	AAA		0.557	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		4	35	0	0	0	1	0	4	35				
HLA-DMB	3109	broad.mit.edu	37	6	32903412	32903412	+	Missense_Mutation	SNP	T	T	C	rs35339338|rs142046749	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32903412T>C	ENST00000418107.2	-	4	902	c.640A>G	c.(640-642)Atg>Gtg	p.M214V	AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	214	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGGTCTGCATGGGGGACAGC	0.537													T|||	13	0.00259585	0.0	0.0	5008	,	,		18097	0.0		0.0	False		,,,				2504	0.0133					ENST00000418107.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(640-642)Atg>Gtg		major histocompatibility complex, class II, DM beta		T	VAL/MET	0,3020		0,0,1510	49.0	55.0	53.0		640	-6.8	0.0	6	dbSNP_134	53	1,5415		0,1,2707	no	missense	HLA-DMB	NM_002118.4	21	0,1,4217	CC,CT,TT		0.0185,0.0,0.0119	benign	214/264	32903412	1,8435	1510	2708	4218	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32903412T>C		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.640A>G	6.37:g.32903412T>C	ENSP00000398890:p.Met214Val						p.M214V	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN			4	902	-			214			Connecting peptide (Potential).		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.640A>G	CCDS4760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.918|7.918	0.738036|0.738036	0.15574|0.15574	0.0|0.0	1.85E-4|1.85E-4	ENSG00000242574|ENSG00000242574	ENST00000414017|ENST00000446948;ENST00000418107	.|T	.|0.00922	.|5.54	4.81|4.81	-6.77|-6.77	0.01727|0.01727	.|Immunoglobulin-like fold (1);	.|1.855370	.|0.02582	.|N	.|0.098998	T|T	0.00210|0.00210	0.0006|0.0006	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.45818|0.45818	-0.9235|-0.9235	5|10	.|0.02654	.|T	.|1	.|.	4.0929|4.0929	0.09978|0.09978	0.1302:0.4874:0.133:0.2494|0.1302:0.4874:0.133:0.2494	.|.	.|103;214	.|B0V062;P28068	.|.;DMB_HUMAN	R|V	103|214	.|ENSP00000398890:M214V	.|ENSP00000398890:M214V	H|M	-|-	2|1	0|0	HLA-DMB|HLA-DMB	33011390|33011390	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.988000|0.988000	0.76386|0.76386	-2.755000|-2.755000	0.00789|0.00789	-1.361000|-1.361000	0.02169|0.02169	0.368000|0.368000	0.22195|0.22195	CAT|ATG		0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		17	27	0	0	0	1	0	17	27				
LTA4H	4048	broad.mit.edu	37	12	96407006	96407006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96407006C>T	ENST00000228740.2	-	14	1480	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	LTA4H_ENST00000552789.1_Missense_Mutation_p.A423T|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_Missense_Mutation_p.A423T|LTA4H_ENST00000548375.1_5'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	447					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TAGAGCCAGGCATTCCAATCA	0.393																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(1339-1341)Gcc>Acc		leukotriene A4 hydrolase							100.0	93.0	96.0					12																	96407006		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96407006C>T	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1339G>A	12.37:g.96407006C>T	ENSP00000228740:p.Ala447Thr					LTA4H_ENST00000413268.2_Missense_Mutation_p.A423T|LTA4H_ENST00000552789.1_Missense_Mutation_p.A423T|LTA4H_ENST00000548375.1_5'UTR	p.A447T	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			14	1480	-			447					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.1339G>A	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	6.083	0.383578	0.11524	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.04502	3.61;3.61;3.61	5.69	1.57	0.23409	.	0.449330	0.25881	N	0.027688	T	0.02119	0.0066	N	0.10972	0.075	0.30879	N	0.731653	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.44817	-0.9303	10	0.08599	T	0.76	-1.5167	5.5734	0.17210	0.1321:0.554:0.0:0.3139	.	423;423;447	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	T	447;423;423	ENSP00000228740:A447T;ENSP00000449958:A423T;ENSP00000395051:A423T	ENSP00000228740:A447T	A	-	1	0	LTA4H	94931137	0.009000	0.17119	0.978000	0.43139	0.998000	0.95712	-0.038000	0.12144	0.011000	0.14865	0.561000	0.74099	GCC		0.393	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		9	52	0	0	0	1	0	9	52				
PHRF1	57661	broad.mit.edu	37	11	609157	609157	+	Missense_Mutation	SNP	C	C	T	rs371096622		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:609157C>T	ENST00000264555.5	+	14	3829	c.3701C>T	c.(3700-3702)aCg>aTg	p.T1234M	PHRF1_ENST00000416188.2_Missense_Mutation_p.T1233M|PHRF1_ENST00000413872.2_Missense_Mutation_p.T1232M|PHRF1_ENST00000533464.1_Missense_Mutation_p.T1230M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1234					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGGTGGCTACGGCCGACAAG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		15128	0.0		0.0	False		,,,				2504	0.001					ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(3700-3702)aCg>aTg		PHD and ring finger domains 1		C	MET/THR	0,4288		0,0,2144	26.0	33.0	31.0		3698	-4.7	0.0	11		31	1,8465		0,1,4232	no	missense	PHRF1	NM_020901.2	81	0,1,6376	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	1233/1649	609157	1,12753	2144	4233	6377	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:609157C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3701C>T	11.37:g.609157C>T	ENSP00000264555:p.Thr1234Met					PHRF1_ENST00000416188.2_Missense_Mutation_p.T1233M|PHRF1_ENST00000533464.1_Missense_Mutation_p.T1230M|PHRF1_ENST00000413872.2_Missense_Mutation_p.T1232M	p.T1234M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	3829	+			1234					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3701C>T		.	.	.	.	.	.	.	.	.	.	C	15.33	2.801881	0.50315	0.0	1.18E-4	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	4.57	-4.65	0.03339	.	1.382470	0.05265	N	0.516518	T	0.53578	0.1805	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.38156	-0.9674	10	0.38643	T	0.18	-1.3383	4.8369	0.13469	0.3299:0.1758:0.0:0.4943	.	1230;1232;1233;1234	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	M	1234;1232;1233;1230	ENSP00000264555:T1234M;ENSP00000388589:T1232M;ENSP00000410626:T1233M;ENSP00000431870:T1230M	ENSP00000264555:T1234M	T	+	2	0	PHRF1	599157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.997000	0.03705	-0.345000	0.08325	-0.459000	0.05422	ACG		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		9	33	0	0	0	1	0	9	33				
NEB	4703	broad.mit.edu	37	2	152506778	152506778	+	Missense_Mutation	SNP	C	C	T	rs373589529		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506778C>T	ENST00000172853.10	-	54	7490	c.7343G>A	c.(7342-7344)cGt>cAt	p.R2448H	NEB_ENST00000409198.1_Missense_Mutation_p.R2448H|NEB_ENST00000604864.1_Missense_Mutation_p.R2448H|NEB_ENST00000603639.1_Missense_Mutation_p.R2448H|NEB_ENST00000427231.2_Missense_Mutation_p.R2448H|NEB_ENST00000397345.3_Missense_Mutation_p.R2448H			P20929	NEBU_HUMAN	nebulin	2448					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGGCTGACGATATTTCTT	0.463																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(7342-7344)cGt>cAt		nebulin		C	HIS/ARG,HIS/ARG,HIS/ARG	1,3839		0,1,1919	159.0	150.0	153.0		7343,7343,7343	5.2	1.0	2		153	0,8262		0,0,4131	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,6050	TT,TC,CC		0.0,0.026,0.0083	probably-damaging,probably-damaging,probably-damaging	2448/8526,2448/8526,2448/6670	152506778	1,12101	1920	4131	6051	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152506778C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7343G>A	2.37:g.152506778C>T	ENSP00000172853:p.Arg2448His					NEB_ENST00000409198.1_Missense_Mutation_p.R2448H|NEB_ENST00000397345.3_Missense_Mutation_p.R2448H|NEB_ENST00000603639.1_Missense_Mutation_p.R2448H|NEB_ENST00000604864.1_Missense_Mutation_p.R2448H|NEB_ENST00000172853.10_Missense_Mutation_p.R2448H	p.R2448H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	54	7545	-			2448					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7343G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.255863	0.95336	2.6E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	3.0;3.0;3.0;2.97	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30822	-0.9965	10	0.59425	D	0.04	.	18.7871	0.91960	0.0:1.0:0.0:0.0	.	2448	P20929	NEBU_HUMAN	H	2448	ENSP00000386259:R2448H;ENSP00000380505:R2448H;ENSP00000416578:R2448H;ENSP00000172853:R2448H	ENSP00000172853:R2448H	R	-	2	0	NEB	152215024	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	7.770000	0.85390	2.456000	0.83038	0.650000	0.86243	CGT		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		29	47	0	0	0	1	0	29	47				
RCVRN	5957	broad.mit.edu	37	17	9801418	9801418	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9801418G>A	ENST00000226193.5	-	3	1037	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	199					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCATCAGGCGTTCTTCATCT	0.507																																						ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(595-597)aaC>aaT		recoverin							329.0	278.0	295.0					17																	9801418		2203	4300	6503	SO:0001819	synonymous_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9801418G>A	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.597C>T	17.37:g.9801418G>A						RCVRN_ENST00000570909.2_Silent_p.N68N	p.N199N	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			3	1037	-			199					Q53XL0	Silent	SNP	ENST00000226193.5	37	c.597C>T	CCDS11151.1																																																																																				0.507	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		63	89	0	0	0	1	0	63	89				
ACACA	31	broad.mit.edu	37	17	35601596	35601596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35601596C>T	ENST00000394406.2	-	21	2729	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	ACACA_ENST00000335166.5_Missense_Mutation_p.E769K|ACACA_ENST00000360679.3_Missense_Mutation_p.E789K|ACACA_ENST00000353139.5_Missense_Mutation_p.E884K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	847					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGAGTTTCTCGCCTCTGAGT	0.453																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2650-2652)Gag>Aag		acetyl-CoA carboxylase alpha	Biotin(DB00121)						154.0	128.0	137.0					17																	35601596		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35601596C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2539G>A	17.37:g.35601596C>T	ENSP00000377928:p.Glu847Lys					ACACA_ENST00000335166.5_Missense_Mutation_p.E769K|ACACA_ENST00000360679.3_Missense_Mutation_p.E789K|ACACA_ENST00000394406.2_Missense_Mutation_p.E847K	p.E884K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			21	3131	-		Breast(25;0.00157)|Ovarian(249;0.15)	847					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2650G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949522	0.73787	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.96	4.96	0.65561	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	M	0.79805	2.47	0.80722	D	1	D;P;P	0.69078	0.997;0.588;0.533	P;B;B	0.60236	0.871;0.066;0.04	T	0.58725	-0.7586	10	0.15499	T	0.54	-18.3983	17.3622	0.87354	0.0:1.0:0.0:0.0	.	884;847;789	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	K	884;789;847;871;769	ENSP00000344789:E884K;ENSP00000353898:E789K;ENSP00000377928:E847K;ENSP00000335323:E769K	ENSP00000335323:E769K	E	-	1	0	ACACA	32675709	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.651000	0.83577	2.576000	0.86940	0.591000	0.81541	GAG		0.453	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		28	47	0	0	0	1	0	28	47				
TLN2	83660	broad.mit.edu	37	15	63127961	63127961	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63127961C>A	ENST00000561311.1	+	55	7384	c.7154C>A	c.(7153-7155)gCa>gAa	p.A2385E	RP11-1069G10.1_ENST00000558404.1_RNA|RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.A2385E			Q9Y4G6	TLN2_HUMAN	talin 2	2385	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAATGCTGCAGACGACGGA	0.592																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7153-7155)gCa>gAa		talin 2							185.0	188.0	187.0					15																	63127961		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63127961C>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7154C>A	15.37:g.63127961C>A	ENSP00000453508:p.Ala2385Glu					TLN2_ENST00000306829.6_Missense_Mutation_p.A2385E|RP11-1069G10.1_ENST00000558404.1_RNA	p.A2385E			Q9Y4G6	TLN2_HUMAN			55	7384	+			2385			I/LWEQ.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.7154C>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	0.690	-0.795008	0.02862	.	.	ENSG00000171914	ENST00000306829	T	0.42131	0.98	4.93	3.03	0.35002	I/LWEQ (4);	0.220347	0.46442	D	0.000284	T	0.24967	0.0606	L	0.29908	0.895	0.39131	D	0.961844	B	0.02656	0.0	B	0.04013	0.001	T	0.11641	-1.0579	10	0.05525	T	0.97	-7.7098	10.6227	0.45489	0.0:0.8431:0.0:0.1569	.	2385	Q9Y4G6	TLN2_HUMAN	E	2385	ENSP00000303476:A2385E	ENSP00000303476:A2385E	A	+	2	0	TLN2	60915014	0.871000	0.30034	0.083000	0.20561	0.926000	0.56050	1.609000	0.36858	1.078000	0.41014	0.462000	0.41574	GCA		0.592	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			8	92	1	0	3.86212e-05	1	4.30401e-05	8	92				
KMO	8564	broad.mit.edu	37	1	241725562	241725562	+	Missense_Mutation	SNP	G	G	A	rs147782357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241725562G>A	ENST00000366559.4	+	7	856	c.545G>A	c.(544-546)cGc>cAc	p.R182H	KMO_ENST00000366557.4_Missense_Mutation_p.R182H|KMO_ENST00000366558.3_Missense_Mutation_p.R182H|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGAAACCTCGCTTTGATTAC	0.443																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(544-546)cGc>cAc		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)		G	HIS/ARG	0,4406		0,0,2203	229.0	193.0	205.0		545	4.7	0.9	1	dbSNP_134	205	1,8599	1.2+/-3.3	0,1,4299	no	missense	KMO	NM_003679.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	182/487	241725562	1,13005	2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241725562G>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.545G>A	1.37:g.241725562G>A	ENSP00000355517:p.Arg182His					KMO_ENST00000366557.4_Missense_Mutation_p.R182H|KMO_ENST00000366558.3_Missense_Mutation_p.R182H|KMO_ENST00000484628.1_3'UTR	p.R182H	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		7	856	+	Ovarian(103;0.103)|all_lung(81;0.23)		182						Missense_Mutation	SNP	ENST00000366559.4	37	c.545G>A	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608846	0.87258	0.0	1.16E-4	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.53640	0.61;0.62;0.67	5.57	4.66	0.58398	Monooxygenase, FAD-binding (1);	0.046831	0.85682	D	0.000000	T	0.70684	0.3252	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.72616	-0.4239	10	0.22706	T	0.39	.	12.3266	0.55013	0.0822:0.0:0.9178:0.0	.	182;182;182	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	H	182	ENSP00000355517:R182H;ENSP00000355516:R182H;ENSP00000355515:R182H	ENSP00000355515:R182H	R	+	2	0	KMO	239792185	1.000000	0.71417	0.871000	0.34182	0.938000	0.57974	7.239000	0.78182	1.342000	0.45619	0.561000	0.74099	CGC		0.443	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		48	65	0	0	0	1	0	48	65				
ZC3H6	376940	broad.mit.edu	37	2	113089840	113089840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113089840G>A	ENST00000409871.1	+	12	3746	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.A1115A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1115							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACCCACAGGCGGACGTTCCCA	0.527																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3343-3345)gcG>gcA		zinc finger CCCH-type containing 6							41.0	44.0	43.0					2																	113089840		1974	4147	6121	SO:0001819	synonymous_variant	376940						nucleic acid binding|zinc ion binding	g.chr2:113089840G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3345G>A	2.37:g.113089840G>A						ZC3H6_ENST00000343936.4_Silent_p.A1115A	p.A1115A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3746	+			1115					A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	c.3345G>A	CCDS46393.1																																																																																				0.527	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		13	16	0	0	0	1	0	13	16				
KRTAP10-10	353333	broad.mit.edu	37	21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	rs147625145	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46057875G>A	ENST00000380095.1	+	1	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(541-543)Gcc>Acc		keratin associated protein 10-10		A	,THR/ALA	0,4406		0,0,2203	156.0	150.0	152.0		,541	-6.5	0.0	21	dbSNP_134	152	6,8594	818.9+/-406.8	0,6,4294	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,58	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	,benign	,181/252	46057875	6,13000	2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057875G>A	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.541G>A	21.37:g.46057875G>A	ENSP00000369438:p.Ala181Thr					TSPEAR_ENST00000323084.4_Intron	p.A181T	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	603	+			181			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.541G>A	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.249703	0.00268	0.0	6.98E-4	ENSG00000221859	ENST00000380095	T	0.01279	5.06	3.27	-6.54	0.01860	.	.	.	.	.	T	0.00356	0.0011	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.11182	T	0.66	.	1.7812	0.03032	0.1131:0.2822:0.2124:0.3923	.	181	P60014	KR10A_HUMAN	T	181	ENSP00000369438:A181T	ENSP00000369438:A181T	A	+	1	0	KRTAP10-10	44882303	0.001000	0.12720	0.000000	0.03702	0.159000	0.22180	-0.707000	0.05041	-1.744000	0.01338	-1.907000	0.00523	GCC		0.642	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		58	101	0	0	0	1	0	58	101				
SYNE2	23224	broad.mit.edu	37	14	64619315	64619315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64619315G>T	ENST00000344113.4	+	85	15885	c.15673G>T	c.(15673-15675)Gca>Tca	p.A5225S	SYNE2_ENST00000357395.3_Missense_Mutation_p.A1610S|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5225S|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5142S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1610S|SYNE2_ENST00000555002.1_Missense_Mutation_p.A1859S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5225					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAATCCAAAGCACTAGATGA	0.353																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4828-4830)Gca>Tca		spectrin repeat containing, nuclear envelope 2							81.0	81.0	81.0					14																	64619315		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64619315G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15673G>T	14.37:g.64619315G>T	ENSP00000341781:p.Ala5225Ser					SYNE2_ENST00000555002.1_Missense_Mutation_p.A1859S|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1610S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5225S|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5142S|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5225S	p.A1610S			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	86	15972	+			5225					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4828G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167265	0.38315	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;4.11;1.4	6.08	3.0	0.34707	.	0.512840	0.18088	N	0.152086	T	0.24851	0.0603	L	0.36672	1.1	0.28754	N	0.901298	B;B;B;B	0.25312	0.123;0.041;0.053;0.071	B;B;B;B	0.32022	0.139;0.016;0.042;0.076	T	0.20174	-1.0283	10	0.10377	T	0.69	.	6.5197	0.22269	0.125:0.0:0.6035:0.2715	.	1610;5142;5225;5225	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	S	5225;1610;5225;5142;5148;1859;1610	ENSP00000350719:A5225S;ENSP00000349969:A1610S;ENSP00000341781:A5225S;ENSP00000452570:A5142S;ENSP00000450831:A1859S;ENSP00000378249:A1610S	ENSP00000261678:A5148S	A	+	1	0	SYNE2	63689068	0.960000	0.32886	0.994000	0.49952	0.970000	0.65996	1.422000	0.34826	1.538000	0.49270	0.655000	0.94253	GCA		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		19	29	1	0	2.37509e-13	1	3.01126e-13	19	29				
ANXA6	309	broad.mit.edu	37	5	150488054	150488054	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150488054T>C	ENST00000354546.5	-	23	1969	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G	ANXA6_ENST00000523714.1_Missense_Mutation_p.E549G|ANXA6_ENST00000356496.5_Missense_Mutation_p.E575G|ANXA6_ENST00000377751.5_Missense_Mutation_p.E238G|ANXA6_ENST00000521512.1_Missense_Mutation_p.E368G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	581					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGACATCTCCTTCTTGAT	0.537																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1741-1743)gAg>gGg		annexin A6							219.0	220.0	219.0					5																	150488054		2041	4194	6235	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150488054T>C	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1742A>G	5.37:g.150488054T>C	ENSP00000346550:p.Glu581Gly					ANXA6_ENST00000523714.1_Missense_Mutation_p.E549G|ANXA6_ENST00000377751.5_Missense_Mutation_p.E238G|ANXA6_ENST00000356496.5_Missense_Mutation_p.E575G|ANXA6_ENST00000521512.1_Missense_Mutation_p.E368G	p.E581G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	1969	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	581					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1742A>G	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107254	0.77096	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	5.57	4.4	0.53042	Annexin repeat, conserved site (1);	0.133960	0.49916	D	0.000127	T	0.24005	0.0581	H	0.94222	3.51	0.47994	D	0.999564	P;D;P	0.54772	0.924;0.968;0.945	B;P;P	0.52881	0.41;0.712;0.712	T	0.05419	-1.0886	10	0.87932	D	0	.	8.6585	0.34077	0.0:0.1558:0.0:0.8442	.	368;575;581	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	G	581;549;238;575;368;455	ENSP00000346550:E581G;ENSP00000430517:E549G;ENSP00000366980:E238G;ENSP00000348889:E575G;ENSP00000430420:E368G	ENSP00000346550:E581G	E	-	2	0	ANXA6	150468247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.907000	0.48743	0.946000	0.37632	0.533000	0.62120	GAG		0.537	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		83	114	0	0	0	1	0	83	114				
IGSF9	57549	broad.mit.edu	37	1	159900180	159900180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159900180C>T	ENST00000368094.1	-	15	2060	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.P605P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	621					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGGGGAGGCGGTATCTCTG	0.662																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1861-1863)ccG>ccA		immunoglobulin superfamily, member 9							51.0	59.0	56.0					1																	159900180		2202	4290	6492	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159900180C>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1863G>A	1.37:g.159900180C>T						IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.P605P	p.P621P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	2060	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	621						Silent	SNP	ENST00000368094.1	37	c.1863G>A	CCDS44254.1																																																																																				0.662	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		23	73	0	0	0	1	0	23	73				
ZNF479	90827	broad.mit.edu	37	7	57188713	57188713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:57188713C>A	ENST00000331162.4	-	5	679	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCCTTGTGCACCTCATATTCA	0.318																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(409-411)Gtg>Ttg		zinc finger protein 479							125.0	115.0	118.0					7																	57188713		1871	4120	5991	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188713C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.409G>T	7.37:g.57188713C>A	ENSP00000333776:p.Val137Leu						p.V137L	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	679	-			137						Missense_Mutation	SNP	ENST00000331162.4	37	c.409G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	2.776	-0.254616	0.05829	.	.	ENSG00000185177	ENST00000331162	T	0.06142	3.34	1.6	-3.21	0.05140	.	.	.	.	.	T	0.03959	0.0111	L	0.28556	0.865	0.09310	N	1	B	0.27498	0.18	B	0.27380	0.079	T	0.42699	-0.9436	9	0.30854	T	0.27	.	3.2097	0.06678	0.0:0.2753:0.2264:0.4982	.	137	Q96JC4	ZN479_HUMAN	L	137	ENSP00000333776:V137L	ENSP00000333776:V137L	V	-	1	0	ZNF479	57192655	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.110000	0.10824	-0.845000	0.04179	-0.498000	0.04607	GTG		0.318	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		8	179	1	0	0.000157383	1	0.00017284	8	179				
ADAM33	80332	broad.mit.edu	37	20	3660180	3660180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3660180G>T	ENST00000356518.2	-	2	377	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	ADAM33_ENST00000379861.4_Missense_Mutation_p.L46M|ADAM33_ENST00000350009.2_Missense_Mutation_p.L46M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	46					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGTCCATCCAGGACCCAGTGC	0.637																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(136-138)Ctg>Atg		ADAM metallopeptidase domain 33							32.0	31.0	31.0					20																	3660180		2202	4300	6502	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3660180G>T	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.136C>A	20.37:g.3660180G>T	ENSP00000348912:p.Leu46Met					ADAM33_ENST00000379861.4_Missense_Mutation_p.L46M|ADAM33_ENST00000350009.2_Missense_Mutation_p.L46M	p.L46M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			2	377	-			46					A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.136C>A	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785303	0.49997	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000428784;ENST00000360630;ENST00000444535;ENST00000439201;ENST00000358035;ENST00000535013;ENST00000322570;ENST00000339622	T;T;T	0.06068	3.35;3.35;3.35	4.88	2.91	0.33838	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.23727	0.0574	M	0.82323	2.585	0.29367	N	0.864286	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.995;0.993;0.998;0.998;0.998;0.983;0.99;0.99	T	0.03576	-1.1023	9	0.56958	D	0.05	.	7.9622	0.30079	0.1864:0.0:0.8136:0.0	.	46;46;46;46;46;46;46;46	B4DTZ3;B4E1Y6;E9PEB2;F5H888;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;.;.;ADA33_HUMAN;.	M	46	ENSP00000348912:L46M;ENSP00000369190:L46M;ENSP00000322550:L46M	ENSP00000318839:L46M	L	-	1	2	ADAM33	3608180	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	1.420000	0.34804	0.748000	0.32831	0.655000	0.94253	CTG		0.637	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		6	8	1	0	0.000442599	1	0.00048047	6	8				
PTBP1	5725	broad.mit.edu	37	19	808591	808591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:808591G>A	ENST00000349038.4	+	12	1287	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	PTBP1_ENST00000350092.4_Missense_Mutation_p.R71H|PTBP1_ENST00000356948.6_Missense_Mutation_p.R431H|PTBP1_ENST00000394601.4_Missense_Mutation_p.R424H	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	405	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCCATCCGCATCACGCTC	0.692																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1291-1293)cGc>cAc		polypyrimidine tract binding protein 1							40.0	31.0	34.0					19																	808591		2199	4298	6497	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:808591G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1214G>A	19.37:g.808591G>A	ENSP00000014112:p.Arg405His					PTBP1_ENST00000349038.4_Missense_Mutation_p.R405H|PTBP1_ENST00000350092.4_Missense_Mutation_p.R71H|PTBP1_ENST00000394601.4_Missense_Mutation_p.R424H	p.R431H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1715	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	405					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.1292G>A	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360300	0.61403	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.53640	0.61;3.2;0.99;1.21	5.14	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.305953	0.35207	N	0.003368	T	0.50480	0.1618	M	0.73430	2.235	0.80722	D	1	B;B;B;B	0.14805	0.009;0.006;0.009;0.011	B;B;B;B	0.24974	0.019;0.035;0.034;0.057	T	0.53408	-0.8443	10	0.66056	D	0.02	-20.5755	12.6803	0.56918	0.0802:0.0:0.9198:0.0	.	71;405;424;431	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	H	431;424;405;71	ENSP00000349428:R431H;ENSP00000408096:R424H;ENSP00000014112:R405H;ENSP00000342332:R71H	ENSP00000014112:R405H	R	+	2	0	PTBP1	759591	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	9.800000	0.99124	1.162000	0.42619	0.557000	0.71058	CGC		0.692	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			6	3	0	0	0	1	0	6	3				
GLI3	2737	broad.mit.edu	37	7	42005518	42005518	+	Silent	SNP	C	C	T	rs569948495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42005518C>T	ENST00000395925.3	-	15	3237	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCCCTCGGGCCGCGTGTAAT	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				C|||	1	0.000199681	0.0	0.0	5008	,	,		15131	0.0		0.0	False		,,,				2504	0.001					ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3151-3153)cgG>cgA		GLI family zinc finger 3							43.0	48.0	46.0					7																	42005518		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005518C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3153G>A	7.37:g.42005518C>T						GLI3_ENST00000479210.1_5'UTR	p.R1051R	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3237	-			1051					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3153G>A	CCDS5465.1																																																																																				0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	33	0	0	0	1	0	11	33				
SAFB2	9667	broad.mit.edu	37	19	5590372	5590372	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5590372G>A	ENST00000252542.4	-	18	2706	c.2442C>T	c.(2440-2442)caC>caT	p.H814H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	814	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGTCCCGGCCGTGGCGCTCTG	0.677																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2440-2442)caC>caT		scaffold attachment factor B2							20.0	22.0	22.0					19																	5590372		2202	4295	6497	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5590372G>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2442C>T	19.37:g.5590372G>A							p.H814H	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	18	2706	-			814			Gly-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.2442C>T	CCDS32879.1																																																																																				0.677	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		6	19	0	0	0	1	0	6	19				
SPRED2	200734	broad.mit.edu	37	2	65540818	65540818	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540818C>A	ENST00000356388.4	-	6	1263	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	SPRED2_ENST00000443619.2_Missense_Mutation_p.E355D	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	358	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TATAGTCTCCCTCGGGGTCCG	0.582																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(1072-1074)gaG>gaT		sprouty-related, EVH1 domain containing 2							88.0	85.0	86.0					2																	65540818		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540818C>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1074G>T	2.37:g.65540818C>A	ENSP00000348753:p.Glu358Asp					SPRED2_ENST00000443619.2_Missense_Mutation_p.E355D	p.E358D	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1263	-			358			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.1074G>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276376	0.80580	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315	T;T;T	0.68025	-0.3;-0.3;-0.3	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.87578	0.962;0.998	T	0.74515	-0.3640	10	0.52906	T	0.07	-32.3837	7.3196	0.26519	0.0:0.7992:0.0:0.2008	.	355;358	E9PEP0;Q7Z698	.;SPRE2_HUMAN	D	358;355;373	ENSP00000348753:E358D;ENSP00000393697:E355D;ENSP00000390595:E373D	ENSP00000348753:E358D	E	-	3	2	SPRED2	65394322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.917000	0.56424	2.636000	0.89361	0.655000	0.94253	GAG		0.582	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			11	28	1	0	0.000978159	1	0.00105116	11	28				
ZNF492	57615	broad.mit.edu	37	19	22846798	22846798	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22846798G>T	ENST00000456783.2	+	4	571	c.327G>T	c.(325-327)caG>caT	p.Q109H	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CGACTACCCAGAACAAAATAT	0.308																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(325-327)caG>caT		zinc finger protein 492							58.0	62.0	61.0					19																	22846798		2082	4244	6326	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846798G>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.327G>T	19.37:g.22846798G>T	ENSP00000413660:p.Gln109His						p.Q109H	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	571	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	109					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.327G>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	2.772	-0.255540	0.05829	.	.	ENSG00000229676	ENST00000456783	T	0.35973	1.28	1.29	-0.147	0.13428	.	.	.	.	.	T	0.29749	0.0743	L	0.54863	1.705	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.24512	-1.0158	9	0.45353	T	0.12	.	5.9063	0.19002	0.0:0.0:0.6921:0.3079	.	109	Q9P255	ZN492_HUMAN	H	109	ENSP00000413660:Q109H	ENSP00000413660:Q109H	Q	+	3	2	ZNF492	22638638	0.321000	0.24625	0.025000	0.17156	0.024000	0.10985	-0.079000	0.11357	-0.572000	0.06006	-0.589000	0.04120	CAG		0.308	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		4	12	1	0	0.000602214	1	0.000649039	4	12				
SACS	26278	broad.mit.edu	37	13	23907741	23907741	+	Missense_Mutation	SNP	T	T	C	rs147317123	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23907741T>C	ENST00000382292.3	-	9	10547	c.10274A>G	c.(10273-10275)aAa>aGa	p.K3425R	SACS_ENST00000402364.1_Missense_Mutation_p.K2675R|SACS_ENST00000382298.3_Missense_Mutation_p.K3425R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3425					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTCCAAATTTTCCAATGCT	0.363													T|||	3	0.000599042	0.0023	0.0	5008	,	,		19310	0.0		0.0	False		,,,				2504	0.0					ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(10273-10275)aAa>aGa		spastic ataxia of Charlevoix-Saguenay (sacsin)		T	ARG/LYS	19,4387	26.2+/-53.5	0,19,2184	107.0	107.0	107.0		10274	4.8	1.0	13	dbSNP_134	107	0,8596		0,0,4298	yes	missense	SACS	NM_014363.4	26	0,19,6482	CC,CT,TT		0.0,0.4312,0.1461	benign	3425/4580	23907741	19,12983	2203	4298	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23907741T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10274A>G	13.37:g.23907741T>C	ENSP00000371729:p.Lys3425Arg					SACS_ENST00000382292.3_Missense_Mutation_p.K3425R|SACS_ENST00000402364.1_Missense_Mutation_p.K2675R	p.K3425R	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	10862	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3425					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.10274A>G	CCDS9300.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	8.267	0.812448	0.16537	0.004312	0.0	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88509	-2.23;-2.39;-2.23	5.94	4.78	0.61160	.	0.198629	0.52532	D	0.000067	T	0.76856	0.4046	N	0.08118	0	0.28884	N	0.894256	B	0.09022	0.002	B	0.04013	0.001	T	0.68002	-0.5524	10	0.33940	T	0.23	.	11.4794	0.50316	0.0:0.0696:0.0:0.9304	.	3425	Q9NZJ4	SACS_HUMAN	R	3425;2675;3425	ENSP00000371729:K3425R;ENSP00000385844:K2675R;ENSP00000371735:K3425R	ENSP00000371729:K3425R	K	-	2	0	SACS	22805741	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.258000	0.58822	2.279000	0.76181	0.459000	0.35465	AAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		14	86	0	0	0	1	0	14	86				
CDH10	1008	broad.mit.edu	37	5	24509872	24509872	+	Silent	SNP	G	G	A	rs144567766		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24509872G>A	ENST00000264463.4	-	7	1566	c.1059C>T	c.(1057-1059)acC>acT	p.T353T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	353	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATCTACATGGGTGTTTTCTG	0.368										HNSCC(23;0.051)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15111	0.0		0.001	False		,,,				2504	0.0					ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1057-1059)acC>acT		cadherin 10, type 2 (T2-cadherin)		G		1,4405	2.1+/-5.4	0,1,2202	69.0	72.0	71.0		1059	2.0	1.0	5	dbSNP_134	71	16,8584	11.2+/-40.8	0,16,4284	no	coding-synonymous	CDH10	NM_006727.3		0,17,6486	AA,AG,GG		0.186,0.0227,0.1307		353/789	24509872	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509872G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1059C>T	5.37:g.24509872G>A		HNSCC(23;0.051)					p.T353T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1566	-			353			Cadherin 3.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1059C>T	CCDS3892.1																																																																																				0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		22	35	0	0	0	1	0	22	35				
KRTAP19-1	337882	broad.mit.edu	37	21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T	rs199797669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852407C>T	ENST00000390689.2	-	1	256	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488																																						ENST00000390689.2																			1	Substitution - Missense(1)	p.R77H(1)	endometrium(1)	cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(229-231)cGc>cAc		keratin associated protein 19-1							156.0	171.0	166.0					21																	31852407		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852407C>T	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.230G>A	21.37:g.31852407C>T	ENSP00000375108:p.Arg77His						p.R77H	NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN			1	256	-			77			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.230G>A	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	9.055	0.993152	0.19043	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.11169	2.8	4.92	-0.514	0.11958	.	0.611706	0.13217	N	0.404631	T	0.07503	0.0189	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30268	-0.9984	9	0.87932	D	0	.	5.0919	0.14713	0.0:0.492:0.1425:0.3655	.	77	Q8IUB9	KR191_HUMAN	H	77;68	ENSP00000375108:R77H	ENSP00000375108:R77H	R	-	2	0	KRTAP19-1	30774278	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.745000	0.01831	-0.198000	0.10333	-0.194000	0.12790	CGC		0.488	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			110	118	0	0	0	1	0	110	118				
ACACA	31	broad.mit.edu	37	17	35512704	35512704	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35512704T>C	ENST00000394406.2	-	43	5429		c.e43-2		ACACA_ENST00000361253.5_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000353139.5_Splice_Site	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGTATCCCTGTGAAGCACA	0.378																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.e43-2		acetyl-CoA carboxylase alpha	Biotin(DB00121)						100.0	95.0	97.0					17																	35512704		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35512704T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5239-2A>G	17.37:g.35512704T>C						ACACA_ENST00000361253.5_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site		NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			43	5831	-		Breast(25;0.00157)|Ovarian(249;0.15)						B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37		CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167459	0.78339	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1846	0.72989	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACACA	32586817	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.841000	0.86834	2.051000	0.60960	0.454000	0.30748	.		0.378	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Intron	7	89	0	0	0	1	0	7	89				
TAS2R19	259294	broad.mit.edu	37	12	11174713	11174713	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174713A>C	ENST00000390673.2	-	1	506	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	153					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTTTGTCCACACTCTCTCATC	0.388																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(457-459)gTg>gGg		taste receptor, type 2, member 19							138.0	124.0	129.0					12																	11174713		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174713A>C	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.458T>G	12.37:g.11174713A>C	ENSP00000375091:p.Val153Gly					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.V153G	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	506	-			153					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.458T>G	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	A	7.524	0.657338	0.14580	.	.	ENSG00000212124	ENST00000390673	T	0.38077	1.16	2.69	1.49	0.22878	.	2.512010	0.02062	U	0.050837	T	0.46210	0.1381	M	0.85945	2.785	0.09310	N	1	B	0.17465	0.022	B	0.26614	0.071	T	0.30387	-0.9980	10	0.52906	T	0.07	.	4.4783	0.11755	0.8312:0.0:0.1688:0.0	.	153	P59542	T2R19_HUMAN	G	153	ENSP00000375091:V153G	ENSP00000375091:V153G	V	-	2	0	TAS2R19	11065980	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.445000	0.21677	0.267000	0.21916	0.333000	0.21579	GTG		0.388	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		44	68	0	0	0	1	0	44	68				
KDM3B	51780	broad.mit.edu	37	5	137721803	137721803	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721803G>A	ENST00000314358.5	+	7	1073	c.873G>A	c.(871-873)tcG>tcA	p.S291S	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	291					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAGTGCTTCGGACTCTGGGT	0.493																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(871-873)tcG>tcA		lysine (K)-specific demethylase 3B							78.0	89.0	85.0					5																	137721803		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721803G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.873G>A	5.37:g.137721803G>A							p.S291S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1073	+			291					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.873G>A	CCDS34242.1																																																																																				0.493	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		24	45	0	0	0	1	0	24	45				
UTP20	27340	broad.mit.edu	37	12	101702006	101702006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101702006G>A	ENST00000261637.4	+	18	2213	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	680					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTATATTACGCCAGGCAGAA	0.418																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2038-2040)cGc>cAc		UTP20, small subunit (SSU) processome component, homolog (yeast)							95.0	93.0	94.0					12																	101702006		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101702006G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2039G>A	12.37:g.101702006G>A	ENSP00000261637:p.Arg680His						p.R680H	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			18	2213	+			680					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.2039G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388491	0.82902	.	.	ENSG00000120800	ENST00000261637	T	0.17213	2.29	5.91	4.95	0.65309	Armadillo-type fold (1);	0.118396	0.64402	D	0.000014	T	0.17534	0.0421	L	0.36672	1.1	0.40354	D	0.979165	D	0.67145	0.996	P	0.47162	0.54	T	0.00544	-1.1679	10	0.40728	T	0.16	-11.6893	11.6402	0.51228	0.0:0.0:0.6194:0.3806	.	680	O75691	UTP20_HUMAN	H	680	ENSP00000261637:R680H	ENSP00000261637:R680H	R	+	2	0	UTP20	100226137	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.665000	0.61547	2.793000	0.96121	0.655000	0.94253	CGC		0.418	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		28	37	0	0	0	1	0	28	37				
ACAA1	30	broad.mit.edu	37	3	38175457	38175457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38175457G>A	ENST00000333167.8	-	3	481	c.309C>T	c.(307-309)atC>atT	p.I103I	ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Silent_p.I103I|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Silent_p.I103I|ACAA1_ENST00000301810.7_Silent_p.I103I	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	103					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.I103I(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAACTGGGCGATTCGGGCCA	0.537																																						ENST00000333167.8																			1	Substitution - coding silent(1)	p.I103I(1)	ovary(1)	endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(307-309)atC>atT		acetyl-CoA acyltransferase 1							67.0	69.0	68.0					3																	38175457		2203	4300	6503	SO:0001819	synonymous_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38175457G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.309C>T	3.37:g.38175457G>A						ACAA1_ENST00000301810.7_Silent_p.I103I|ACAA1_ENST00000450296.1_Silent_p.I103I|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Silent_p.I103I	p.I103I	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	3	481	-			103					G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.309C>T	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972719	0.34848	.	.	ENSG00000060971	ENST00000421218	.	.	.	5.58	-5.2	0.02823	.	.	.	.	.	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66674	-0.5864	4	.	.	.	-21.0765	17.161	0.86803	0.8191:0.0:0.1809:0.0	.	.	.	.	L	26	.	.	S	-	2	0	ACAA1	38150461	0.000000	0.05858	0.306000	0.25113	0.989000	0.77384	-1.996000	0.01471	-1.152000	0.02832	-0.140000	0.14226	TCG		0.537	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		17	22	0	0	0	1	0	17	22				
KRT222	125113	broad.mit.edu	37	17	38821333	38821333	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38821333G>T	ENST00000476049.1	-	1	60	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	KRT222_ENST00000394052.3_Missense_Mutation_p.L7I|AC073508.1_ENST00000607244.1_RNA			Q8N1A0	KT222_HUMAN	keratin 222	7						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						ATCTCATTGAGTAGCTGGGAC	0.488																																						ENST00000476049.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(19-21)Ctc>Atc		keratin 222							285.0	259.0	267.0					17																	38821333		2203	4300	6503	SO:0001583	missense	125113					intermediate filament	structural molecule activity	g.chr17:38821333G>T	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.19C>A	17.37:g.38821333G>T	ENSP00000463483:p.Leu7Ile					KRT222_ENST00000394052.3_Missense_Mutation_p.L7I	p.L7I			Q8N1A0	KT222_HUMAN			1	60	-			7					Q7Z368	Missense_Mutation	SNP	ENST00000476049.1	37	c.19C>A	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346374	0.82022	.	.	ENSG00000213424	ENST00000394052	D	0.92299	-3.01	5.74	5.74	0.90152	Filament (1);	0.104042	0.40469	U	0.001082	D	0.91321	0.7263	L	0.33137	0.985	0.33070	D	0.535273	P	0.45348	0.856	P	0.48368	0.575	D	0.93340	0.6709	10	0.59425	D	0.04	-7.5082	19.9145	0.97053	0.0:0.0:1.0:0.0	.	7	Q8N1A0	KT222_HUMAN	I	7	ENSP00000377616:L7I	ENSP00000377616:L7I	L	-	1	0	KRT222	36074859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.568000	0.60857	2.709000	0.92574	0.655000	0.94253	CTC		0.488	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		13	158	1	0	1.15088e-07	1	1.35723e-07	13	158				
SPOCD1	90853	broad.mit.edu	37	1	32279930	32279930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32279930C>A	ENST00000360482.2	-	2	1134	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.Q335H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q335H	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	335					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGCAGAGGCCTGTGCTGACG	0.657																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(1003-1005)caG>caT		SPOC domain containing 1							14.0	16.0	15.0					1																	32279930		2194	4291	6485	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32279930C>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1005G>T	1.37:g.32279930C>A	ENSP00000353670:p.Gln335His					SPOCD1_ENST00000373648.2_Missense_Mutation_p.Q335H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q335H|SPOCD1_ENST00000257100.3_Intron	p.Q335H	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	1134	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	335					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1005G>T	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374521	0.24857	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.32272	1.9;1.46;1.89	3.67	0.593	0.17478	.	.	.	.	.	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	P;P	0.40032	0.699;0.574	B;B	0.41202	0.35;0.19	T	0.14008	-1.0488	9	0.66056	D	0.02	-0.1297	5.6313	0.17512	0.0:0.4941:0.3925:0.1134	.	335;335	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	H	335	ENSP00000353670:Q335H;ENSP00000362752:Q335H;ENSP00000435851:Q335H	ENSP00000353670:Q335H	Q	-	3	2	SPOCD1	32052517	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.294000	0.08309	0.127000	0.18452	0.563000	0.77884	CAG		0.657	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		3	16	1	0	0.004672	1	0.0049138	3	16				
SSPO	23145	broad.mit.edu	37	7	149486406	149486406	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149486406A>G	ENST00000378016.2	+	0	4382							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGTGCCGATGGACGCTGC	0.677																																						ENST00000378016.2																			0													SCO-spondin							22.0	26.0	25.0					7																	149486406		2201	4295	6496			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486406A>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486406A>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4382	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	42	0	0	0	1	0	3	42				
ZBTB7C	201501	broad.mit.edu	37	18	45566387	45566387	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566387C>T	ENST00000588982.1	-	3	1593	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	ZBTB7C_ENST00000332053.2_Silent_p.Q364Q|ZBTB7C_ENST00000586438.1_Silent_p.Q364Q|ZBTB7C_ENST00000535628.2_Silent_p.Q364Q|ZBTB7C_ENST00000590800.1_Silent_p.Q364Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	364							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGGCACTGCTGAGAGGCCT	0.622																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1090-1092)caG>caA		zinc finger and BTB domain containing 7C							72.0	74.0	74.0					18																	45566387		2203	4300	6503	SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566387C>T	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1092G>A	18.37:g.45566387C>T						ZBTB7C_ENST00000586438.1_Silent_p.Q364Q|ZBTB7C_ENST00000535628.2_Silent_p.Q364Q|ZBTB7C_ENST00000590800.1_Silent_p.Q364Q|ZBTB7C_ENST00000332053.2_Silent_p.Q364Q	p.Q364Q			A1YPR0	ZBT7C_HUMAN			3	1593	-			364					O73453	Silent	SNP	ENST00000588982.1	37	c.1092G>A	CCDS32830.1																																																																																				0.622	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		29	61	0	0	0	1	0	29	61				
FTHL17	53940	broad.mit.edu	37	X	31089585	31089585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31089585C>T	ENST00000359202.3	-	1	585	c.486G>A	c.(484-486)ccG>ccA	p.P162P		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	162					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCCGGCTTCCGGGGAACAAA	0.612																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(484-486)ccG>ccA		ferritin, heavy polypeptide-like 17							55.0	51.0	52.0					X																	31089585		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089585C>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.486G>A	X.37:g.31089585C>T							p.P162P	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	585	-			162					Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.486G>A	CCDS14227.1																																																																																				0.612	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		15	25	0	0	0	1	0	15	25				
AMOT	154796	broad.mit.edu	37	X	112054488	112054488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:112054488C>A	ENST00000524145.1	-	4	1600	c.1526G>T	c.(1525-1527)aGg>aTg	p.R509M	AMOT_ENST00000371962.1_Missense_Mutation_p.R277M|AMOT_ENST00000371958.1_Missense_Mutation_p.R277M|AMOT_ENST00000304758.1_Missense_Mutation_p.R100M|AMOT_ENST00000371959.3_Missense_Mutation_p.R509M			Q4VCS5	AMOT_HUMAN	angiomotin	509					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.R100M(1)|p.R509M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTCAGATCCCTGTTGAAATC	0.502																																						ENST00000371959.3																			2	Substitution - Missense(2)	p.R100M(1)|p.R509M(1)	lung(2)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1525-1527)aGg>aTg		angiomotin							250.0	211.0	224.0					X																	112054488		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112054488C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1526G>T	X.37:g.112054488C>A	ENSP00000429013:p.Arg509Met					AMOT_ENST00000524145.1_Missense_Mutation_p.R509M|AMOT_ENST00000371958.1_Missense_Mutation_p.R277M|AMOT_ENST00000304758.1_Missense_Mutation_p.R100M|AMOT_ENST00000371962.1_Missense_Mutation_p.R277M	p.R509M	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			3	1525	-			509					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1526G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825801	0.71143	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.84585	2.705	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.63462	-0.6632	10	0.87932	D	0	-15.7577	18.3623	0.90379	0.0:1.0:0.0:0.0	.	509	Q4VCS5	AMOT_HUMAN	M	100;509;277;509;277	ENSP00000305557:R100M;ENSP00000361027:R509M;ENSP00000361030:R277M;ENSP00000429013:R509M;ENSP00000361026:R277M	ENSP00000305557:R100M	R	-	2	0	AMOT	111941144	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.562000	0.86427	0.600000	0.82982	AGG		0.502	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		21	237	1	0	3.62473e-10	1	4.44982e-10	21	237				
IKBKAP	8518	broad.mit.edu	37	9	111674654	111674654	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111674654T>C	ENST00000374647.5	-	11	1386	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.H11R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	360					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGAGAACATGCAGCCGGTA	0.512																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1078-1080)cAt>cGt		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							121.0	106.0	111.0					9																	111674654		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111674654T>C	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1079A>G	9.37:g.111674654T>C	ENSP00000363779:p.His360Arg					IKBKAP_ENST00000537196.1_Missense_Mutation_p.H11R	p.H360R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			11	1386	-			360					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.1079A>G	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492751	0.84962	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26223	3.46;1.75	5.64	5.64	0.86602	.	0.042497	0.85682	D	0.000000	T	0.48732	0.1516	M	0.72479	2.2	0.46078	D	0.998855	D	0.89917	1.0	D	0.71656	0.974	T	0.43310	-0.9399	10	0.41790	T	0.15	-19.2367	14.0943	0.65010	0.0:0.0:0.0:1.0	.	360	O95163	ELP1_HUMAN	R	360;11	ENSP00000363779:H360R;ENSP00000439367:H11R	ENSP00000363779:H360R	H	-	2	0	IKBKAP	110714475	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.628000	0.83189	2.276000	0.75962	0.455000	0.32223	CAT		0.512	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			6	35	0	0	0	1	0	6	35				
TYK2	7297	broad.mit.edu	37	19	10465199	10465199	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10465199C>A	ENST00000525621.1	-	19	3185	c.2704G>T	c.(2704-2706)Gat>Tat	p.D902Y	TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000264818.6_Missense_Mutation_p.D902Y|TYK2_ENST00000524462.1_Missense_Mutation_p.D717Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	902	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGCCCAGATCTCGGATCTTT	0.552																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2704-2706)Gat>Tat		tyrosine kinase 2							60.0	63.0	62.0					19																	10465199		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10465199C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2704G>T	19.37:g.10465199C>A	ENSP00000431885:p.Asp902Tyr					TYK2_ENST00000264818.6_Missense_Mutation_p.D902Y|TYK2_ENST00000524462.1_Missense_Mutation_p.D717Y	p.D902Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		19	3185	-			902			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.2704G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531012	0.85706	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.88818	-2.43;-2.43;-2.43	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.105638	0.39544	N	0.001334	D	0.90532	0.7033	L	0.28115	0.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.68192	0.956	D	0.91654	0.5337	10	0.66056	D	0.02	-23.5269	16.7626	0.85516	0.0:1.0:0.0:0.0	.	902	P29597	TYK2_HUMAN	Y	717;902;902;649	ENSP00000433203:D717Y;ENSP00000431885:D902Y;ENSP00000264818:D902Y	ENSP00000264818:D902Y	D	-	1	0	TYK2	10326199	0.998000	0.40836	1.000000	0.80357	0.920000	0.55202	4.276000	0.58933	2.574000	0.86865	0.655000	0.94253	GAT		0.552	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	48	1	0	2.27111e-07	1	2.66951e-07	10	48				
BCOR	54880	broad.mit.edu	37	X	39933021	39933021	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39933021C>T	ENST00000378444.4	-	4	1806	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	BCOR_ENST00000378455.4_Silent_p.S526S|BCOR_ENST00000397354.3_Silent_p.S526S|BCOR_ENST00000342274.4_Silent_p.S526S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	526					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTTTTCAGCGACATGCTTT	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1576-1578)tcG>tcA		BCL6 corepressor							131.0	71.0	91.0					X																	39933021		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933021C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1578G>A	X.37:g.39933021C>T						BCOR_ENST00000378444.4_Silent_p.S526S|BCOR_ENST00000397354.3_Silent_p.S526S|BCOR_ENST00000378455.4_Silent_p.S526S	p.S526S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1940	-			526					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1578G>A	CCDS48093.1																																																																																				0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		22	26	0	0	0	1	0	22	26				
FRAS1	80144	broad.mit.edu	37	4	79443853	79443853	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443853T>C	ENST00000264895.6	+	69	11139	c.10699T>C	c.(10699-10701)Ttg>Ctg	p.L3567L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3563					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCTTTCGTATTGACTCCAGA	0.433																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10699-10701)Ttg>Ctg		Fraser syndrome 1							52.0	52.0	52.0					4																	79443853		1869	4110	5979	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79443853T>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10699T>C	4.37:g.79443853T>C							p.L3567L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			69	11139	+			3562					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.10699T>C	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	0.274	-0.990728	0.02162	.	.	ENSG00000138759	ENST00000512123	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.39368	D	0.966034	.	.	.	.	.	.	T	0.63919	-0.6528	4	.	.	.	.	11.8711	0.52520	0.3516:0.5128:0.0:0.1356	.	.	.	.	T	1795	.	.	I	+	2	0	FRAS1	79662877	0.182000	0.23173	0.007000	0.13788	0.005000	0.04900	-1.162000	0.03141	-2.448000	0.00545	-0.290000	0.09829	ATT		0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	10	0	0	0	1	0	14	10				
CNKSR2	22866	broad.mit.edu	37	X	21627188	21627188	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21627188G>T	ENST00000379510.3	+	20	2181		c.e20-1		CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000425654.2_Splice_Site	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTCTACAGATGAGTTGCG	0.453																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.e19-1		connector enhancer of kinase suppressor of Ras 2							39.0	40.0	39.0					X																	21627188		2203	4300	6503	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627188G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2146-1G>T	X.37:g.21627188G>T						CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site		NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2535	+								B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37		CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884420	0.72410	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6499	0.91427	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNKSR2	21537109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.478000	0.90428	2.348000	0.79779	0.594000	0.82650	.		0.453	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Intron	6	42	1	0	0.00116845	1	0.00124821	6	42				
SLITRK6	84189	broad.mit.edu	37	13	86369282	86369282	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369282G>A	ENST00000400286.2	-	2	1960	c.1362C>T	c.(1360-1362)acC>acT	p.T454T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	454					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGATTAAAGGTTCCTGGCA	0.358																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1360-1362)acC>acT		SLIT and NTRK-like family, member 6							81.0	79.0	80.0					13																	86369282		1810	4074	5884	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86369282G>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1362C>T	13.37:g.86369282G>A							p.T454T	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1960	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		454					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.1362C>T	CCDS41903.1																																																																																				0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		32	60	0	0	0	1	0	32	60				
PCDH11X	27328	broad.mit.edu	37	X	91675536	91675536	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91675536A>G	ENST00000373094.1	+	5	4188				PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000298274.8_Silent_p.P1081P|PCDH11X_ENST00000504220.2_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ccttcatcccaaggagggttt	0.348																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000298274.8																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3241-3243)ccA>ccG		protocadherin 11 X-linked							152.0	151.0	151.0					X																	91675536		876	1989	2865	SO:0001627	intron_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91675536A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3343+32604A>G	X.37:g.91675536A>G						PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron	p.P1081P			Q9BZA7	PC11X_HUMAN			4	3243	+			1118					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3243A>G	CCDS14461.1																																																																																				0.348	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		8	180	0	0	0	1	0	8	180				
IP6K1	9807	broad.mit.edu	37	3	49785313	49785313	+	Missense_Mutation	SNP	C	C	T	rs377655659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49785313C>T	ENST00000321599.4	-	2	462	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	IP6K1_ENST00000395238.1_Intron|IP6K1_ENST00000460540.1_Intron|IP6K1_ENST00000498149.1_5'Flank|IP6K1_ENST00000468463.1_Missense_Mutation_p.R54Q	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	54					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCGCTGTTCCCGGGAGATGAG	0.557																																						ENST00000321599.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						c.(160-162)cGg>cAg		inositol hexakisphosphate kinase 1		C	,GLN/ARG,GLN/ARG	0,4406		0,0,2203	100.0	90.0	93.0		,161,161	4.6	1.0	3		93	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense	IP6K1	NM_001006115.2,NM_001242829.1,NM_153273.3	,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging,possibly-damaging	,54/442,54/442	49785313	1,13005	2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49785313C>T	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.161G>A	3.37:g.49785313C>T	ENSP00000323780:p.Arg54Gln					IP6K1_ENST00000468463.1_Missense_Mutation_p.R54Q|IP6K1_ENST00000460540.1_Intron|IP6K1_ENST00000395238.1_Intron	p.R54Q	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN			2	462	-			54					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.161G>A	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.903926	0.92035	0.0	1.16E-4	ENSG00000176095	ENST00000321599;ENST00000468463	T;T	0.77358	-1.09;-1.09	5.49	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.66939	2.045	0.80722	D	1	P;P	0.43607	0.509;0.812	B;B	0.34489	0.058;0.184	T	0.73458	-0.3976	10	0.27082	T	0.32	-17.6033	16.5795	0.84711	0.0:0.8698:0.1302:0.0	.	54;54	C9JNA8;Q92551	.;IP6K1_HUMAN	Q	54	ENSP00000323780:R54Q;ENSP00000420467:R54Q	ENSP00000323780:R54Q	R	-	2	0	IP6K1	49760317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	1.550000	0.49438	0.655000	0.94253	CGG		0.557	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		9	42	0	0	0	1	0	9	42				
SOGA3	387104	broad.mit.edu	37	6	127834173	127834173	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127834173T>C	ENST00000525778.1	-	4	2093	c.1348A>G	c.(1348-1350)Aga>Gga	p.R450G	SOGA3_ENST00000368268.2_Missense_Mutation_p.R450G|SOGA3_ENST00000465909.2_Missense_Mutation_p.R450G|SOGA3_ENST00000481848.2_Missense_Mutation_p.R450G|SOGA3_ENST00000556132.1_Missense_Mutation_p.R450G			Q5TF21	SOGA3_HUMAN	SOGA family member 3	450					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGGTGAAGTCTCACAGATACA	0.313																																						ENST00000556132.1																			0											c.(1348-1350)Aga>Gga		SOGA family member 3							136.0	111.0	118.0					6																	127834173		1822	4099	5921	SO:0001583	missense	387104					integral to membrane		g.chr6:127834173T>C	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1348A>G	6.37:g.127834173T>C	ENSP00000434570:p.Arg450Gly					SOGA3_ENST00000525778.1_Missense_Mutation_p.R450G|SOGA3_ENST00000368268.2_Missense_Mutation_p.R450G|SOGA3_ENST00000465909.2_Missense_Mutation_p.R450G|SOGA3_ENST00000481848.2_Missense_Mutation_p.R450G	p.R450G	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			4	2212	-			450						Missense_Mutation	SNP	ENST00000525778.1	37	c.1348A>G	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007705	0.75046	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.52	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	M	0.83774	2.66	0.58432	D	0.999996	D	0.76494	0.999	D	0.87578	0.998	T	0.46373	-0.9196	10	0.87932	D	0	-12.913	13.055	0.58975	0.0:0.0:0.1341:0.8659	.	450	Q5TF21	CF174_HUMAN	G	450	ENSP00000451768:R450G;ENSP00000357251:R450G;ENSP00000434570:R450G;ENSP00000435559:R450G	ENSP00000435559:R450G	R	-	1	2	C6orf174	127875866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	1.003000	0.39130	0.533000	0.62120	AGA		0.313	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		6	9	0	0	0	1	0	6	9				
ARID1A	8289	broad.mit.edu	37	1	27106327	27106327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106327C>T	ENST00000324856.7	+	20	6309	c.5938C>T	c.(5938-5940)Cgc>Tgc	p.R1980C	ARID1A_ENST00000540690.1_Missense_Mutation_p.R308C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1763C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1597C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1980					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTTGCCAAGCGCTGCGTCTG	0.537			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5938-5940)Cgc>Tgc		AT rich interactive domain 1A (SWI-like)							120.0	98.0	106.0					1																	27106327		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106327C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5938C>T	1.37:g.27106327C>T	ENSP00000320485:p.Arg1980Cys					ARID1A_ENST00000457599.2_Missense_Mutation_p.R1763C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1597C|ARID1A_ENST00000540690.1_Missense_Mutation_p.R308C	p.R1980C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6309	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1980					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5938C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.841901|3.841901	0.71488|0.71488	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76	5.0|5.0	4.09|4.09	0.47781|0.47781	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70850|0.70850	0.3271|0.3271	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.89917	.|1.0;1.0;0.743	.|D;D;B	.|0.91635	.|0.997;0.999;0.176	T|T	0.77169|0.77169	-0.2686|-0.2686	5|10	.|0.87932	.|D	.|0	-2.0514|-2.0514	14.0086|14.0086	0.64481|0.64481	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	.|1597;1980;1763	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|C	876|1980;1763;1597;308	.|ENSP00000320485:R1980C;ENSP00000387636:R1763C;ENSP00000363267:R1597C;ENSP00000442437:R308C	.|ENSP00000320485:R1980C	A|R	+|+	2|1	0|0	ARID1A|ARID1A	26978914|26978914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.518000|7.518000	0.81795|0.81795	1.471000|1.471000	0.48121|0.48121	0.478000|0.478000	0.44815|0.44815	GCG|CGC		0.537	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		31	55	0	0	0	1	0	31	55				
SNAP25	6616	broad.mit.edu	37	20	10273855	10273855	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10273855C>T	ENST00000254976.2	+	5	421	c.210C>T	c.(208-210)gaC>gaT	p.D70D	SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	70	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCAATAAGGACATGAAAGAAG	0.438																																						ENST00000254976.2																			0				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(208-210)gaC>gaT		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						154.0	165.0	161.0					20																	10273855		2203	4300	6503	SO:0001819	synonymous_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10273855C>T		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.210C>T	20.37:g.10273855C>T						SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Intron	p.D70D	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN			5	421	+			70			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP	ENST00000254976.2	37	c.210C>T	CCDS13110.1																																																																																				0.438	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		9	95	0	0	0	1	0	9	95				
LEPRE1	64175	broad.mit.edu	37	1	43220608	43220608	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43220608T>C	ENST00000296388.5	-	8	1328	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	LEPRE1_ENST00000236040.4_Missense_Mutation_p.K426R|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K426R			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	426					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCGATTTCCTTCATAAGGTT	0.557																																						ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1276-1278)aAg>aGg		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						112.0	100.0	104.0					1																	43220608		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43220608T>C	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1277A>G	1.37:g.43220608T>C	ENSP00000296388:p.Lys426Arg					LEPRE1_ENST00000296388.5_Missense_Mutation_p.K426R|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K426R	p.K426R	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			8	1317	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	426					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1277A>G	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500050	0.85176	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.38722	1.15;1.12;1.37	5.57	4.44	0.53790	.	0.113777	0.56097	N	0.000024	T	0.49236	0.1545	L	0.37897	1.145	0.41121	D	0.985819	D;D;D	0.76494	0.998;0.998;0.999	D;P;D	0.68483	0.958;0.896;0.941	T	0.41520	-0.9504	10	0.36615	T	0.2	-30.3054	9.5227	0.39145	0.0:0.0838:0.0:0.9162	.	426;291;426	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	R	426;426;426;291	ENSP00000380245:K426R;ENSP00000236040:K426R;ENSP00000296388:K426R	ENSP00000236040:K426R	K	-	2	0	LEPRE1	42993195	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.467000	0.80930	0.945000	0.37605	0.379000	0.24179	AAG		0.557	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		5	44	0	0	0	1	0	5	44				
RBMXL1	494115	broad.mit.edu	37	1	89449270	89449270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89449270C>A	ENST00000321792.5	-	2	667	c.240G>T	c.(238-240)aaG>aaT	p.K80N	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.K80N	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	80	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTTGTTCCACCTTGATGGCTT	0.478											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399794.2																			0											c.(238-240)aaG>aaT		RNA binding motif protein, X-linked-like 1							111.0	111.0	111.0					1																	89449270		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89449270C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.240G>T	1.37:g.89449270C>A	ENSP00000318415:p.Lys80Asn		OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1267	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.K80N|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	p.K80N	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	955	-			80			RRM.			Missense_Mutation	SNP	ENST00000321792.5	37	c.240G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266112	0.80358	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.85629	-2.01;-2.01	1.59	0.591	0.17465	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.81163	0.4765	L	0.45137	1.4	0.42026	D	0.991001	D	0.76494	0.999	D	0.78314	0.991	T	0.80306	-0.1438	10	0.87932	D	0	-1.6583	3.4597	0.07528	0.0:0.7211:0.0:0.2789	.	80	Q96E39	RBMXL_HUMAN	N	80	ENSP00000318415:K80N;ENSP00000446099:K80N	ENSP00000318415:K80N	K	-	3	2	RBMXL1	89221858	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	0.821000	0.27338	0.884000	0.36064	0.306000	0.20318	AAG		0.478	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		44	141	1	0	2.35958e-20	1	3.09731e-20	44	141				
REST	5978	broad.mit.edu	37	4	57797637	57797637	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797637T>G	ENST00000309042.7	+	4	2927	c.2613T>G	c.(2611-2613)aaT>aaG	p.N871K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	871					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAAAGGAAAATTTAAGAGAAG	0.438																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2611-2613)aaT>aaG		RE1-silencing transcription factor							112.0	122.0	118.0					4																	57797637		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797637T>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2613T>G	4.37:g.57797637T>G	ENSP00000311816:p.Asn871Lys						p.N871K	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2927	+	Glioma(25;0.08)|all_neural(26;0.181)		871					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2613T>G	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	5.709	0.315248	0.10789	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.07444	3.19	5.23	0.837	0.18896	.	1.223530	0.05878	N	0.625879	T	0.04497	0.0123	N	0.25647	0.755	0.09310	N	1	P;B	0.36535	0.557;0.139	B;B	0.31101	0.124;0.058	T	0.29212	-1.0019	10	0.07482	T	0.82	-0.9356	3.8617	0.08999	0.0:0.3342:0.388:0.2777	.	848;871	F8WAN5;Q13127	.;REST_HUMAN	K	871;848	ENSP00000311816:N871K	ENSP00000311816:N871K	N	+	3	2	REST	57492394	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.788000	0.04614	0.553000	0.29044	-0.242000	0.12053	AAT		0.438	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		62	90	0	0	0	1	0	62	90				
AADACL2	344752	broad.mit.edu	37	3	151474940	151474940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151474940C>A	ENST00000356517.3	+	5	873	c.764C>A	c.(763-765)aCc>aAc	p.T255N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	255						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTATATTTCACCAAGGATGAA	0.403																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(763-765)aCc>aAc		arylacetamide deacetylase-like 2							144.0	151.0	148.0					3																	151474940		2203	4297	6500	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151474940C>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.764C>A	3.37:g.151474940C>A	ENSP00000348911:p.Thr255Asn					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.T255N	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	873	+			255					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.764C>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902458	0.92035	.	.	ENSG00000197953	ENST00000356517	T	0.57436	0.4	4.69	3.78	0.43462	Alpha/beta hydrolase fold-3 (1);	0.281103	0.39341	N	0.001395	T	0.57198	0.2037	N	0.21545	0.675	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.55805	-0.8083	10	0.33940	T	0.23	-20.1384	14.1605	0.65443	0.0:0.8484:0.1516:0.0	.	255	Q6P093	ADCL2_HUMAN	N	255	ENSP00000348911:T255N	ENSP00000348911:T255N	T	+	2	0	AADACL2	152957630	1.000000	0.71417	0.011000	0.14972	0.929000	0.56500	4.739000	0.62080	1.121000	0.41925	0.591000	0.81541	ACC		0.403	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		48	103	1	0	5.57489e-27	1	7.43239e-27	48	103				
CHRND	1144	broad.mit.edu	37	2	233399045	233399045	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233399045A>G	ENST00000258385.3	+	11	1396	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	CHRND_ENST00000457943.2_Missense_Mutation_p.Y261C|CHRND_ENST00000543200.1_Missense_Mutation_p.Y440C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	455					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CAGAACAATTACAATGAGGTA	0.493																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(1363-1365)tAc>tGc		cholinergic receptor, nicotinic, delta (muscle)							67.0	66.0	66.0					2																	233399045		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233399045A>G	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1364A>G	2.37:g.233399045A>G	ENSP00000258385:p.Tyr455Cys					CHRND_ENST00000457943.2_Missense_Mutation_p.Y261C|CHRND_ENST00000543200.1_Missense_Mutation_p.Y440C	p.Y455C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	11	1396	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	455					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.1364A>G	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	a	16.38	3.106006	0.56291	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85629	-2.01;-2.01;-2.01	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.180326	0.50627	D	0.000119	D	0.85991	0.5826	M	0.66560	2.04	0.53688	D	0.999979	P;P;P;P	0.44578	0.838;0.473;0.473;0.473	P;B;B;B	0.48571	0.582;0.28;0.28;0.28	D	0.85097	0.0955	10	0.38643	T	0.18	.	10.3053	0.43676	0.9228:0.0:0.0772:0.0	.	261;440;455;455	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	C	440;455;261	ENSP00000438380:Y440C;ENSP00000258385:Y455C;ENSP00000391055:Y261C	ENSP00000258385:Y455C	Y	+	2	0	CHRND	233107289	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.762000	0.62250	1.968000	0.57251	0.375000	0.23000	TAC		0.493	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			19	31	0	0	0	1	0	19	31				
DGKA	1606	broad.mit.edu	37	12	56335065	56335065	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56335065T>C	ENST00000331886.5	+	14	1585	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.L377L|DGKA_ENST00000551156.1_Silent_p.L377L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	377	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACCCACTTCTCGTCTTTG	0.498																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1129-1131)ctT>ctC		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						121.0	119.0	120.0					12																	56335065		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56335065T>C	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1131T>C	12.37:g.56335065T>C						DGKA_ENST00000551156.1_Silent_p.L377L|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.L377L	p.L377L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			14	1585	+			377			DAGKc.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.1131T>C	CCDS8896.1																																																																																				0.498	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			46	80	0	0	0	1	0	46	80				
UBA7	7318	broad.mit.edu	37	3	49849918	49849918	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849918C>A	ENST00000333486.3	-	6	775	c.617G>T	c.(616-618)gGa>gTa	p.G206V	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACCAAGTCTCCATCACGGAA	0.567																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(616-618)gGa>gTa		ubiquitin-like modifier activating enzyme 7							84.0	79.0	80.0					3																	49849918		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49849918C>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.617G>T	3.37:g.49849918C>A	ENSP00000333266:p.Gly206Val					UBA7_ENST00000494212.1_5'UTR	p.G206V	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	6	775	-			206			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.617G>T	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326258	0.24080	.	.	ENSG00000182179	ENST00000333486	T	0.37058	1.22	5.46	1.21	0.21127	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.214998	0.48767	N	0.000178	T	0.53449	0.1797	H	0.95470	3.675	0.80722	D	1	P	0.52842	0.956	P	0.49752	0.621	T	0.55692	-0.8101	10	0.87932	D	0	-8.7913	5.5615	0.17146	0.2687:0.57:0.0:0.1612	.	206	P41226	UBA7_HUMAN	V	206	ENSP00000333266:G206V	ENSP00000333266:G206V	G	-	2	0	UBA7	49824922	0.989000	0.36119	0.200000	0.23457	0.062000	0.15995	1.971000	0.40530	-0.004000	0.14419	-0.379000	0.06801	GGA		0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		4	52	1	0	0.000602214	1	0.000649039	4	52				
SERPINB7	8710	broad.mit.edu	37	18	61459678	61459678	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61459678G>A	ENST00000398019.2	+	3	544		c.e3+1		SERPINB7_ENST00000546027.1_Splice_Site|SERPINB7_ENST00000336429.2_Splice_Site|SERPINB7_ENST00000540675.1_Intron	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7						negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAATAGTCAGGTAAAGACAAT	0.443																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.e3+1		serpin peptidase inhibitor, clade B (ovalbumin), member 7							115.0	99.0	105.0					18																	61459678		2202	4300	6502	SO:0001630	splice_region_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61459678G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.219+1G>A	18.37:g.61459678G>A						SERPINB7_ENST00000336429.2_Splice_Site|SERPINB7_ENST00000546027.1_Splice_Site|SERPINB7_ENST00000540675.1_Intron		NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			3	544	+		Esophageal squamous(42;0.129)						B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Splice_Site	SNP	ENST00000398019.2	37		CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519908	0.44866	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000447428;ENST00000546027;ENST00000431370	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8599	0.63554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINB7	59610658	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	4.046000	0.57376	2.735000	0.93741	0.655000	0.94253	.		0.443	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	Intron	23	35	0	0	0	1	0	23	35				
EPRS	2058	broad.mit.edu	37	1	220179606	220179606	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220179606T>G	ENST00000366923.3	-	15	2061	c.1792A>C	c.(1792-1794)Aac>Cac	p.N598H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	598	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TAGTCTTTGTTTTCCAAATTC	0.353																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(1792-1794)Aac>Cac		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						142.0	133.0	136.0					1																	220179606		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220179606T>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1792A>C	1.37:g.220179606T>G	ENSP00000355890:p.Asn598His					EPRS_ENST00000464052.1_5'UTR	p.N598H	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	15	2061	-			598			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1792A>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615097	0.87359	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.07800	3.16	5.74	5.74	0.90152	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.87456	2.885	0.80722	D	1	D;P;D	0.89917	0.999;0.93;1.0	D;P;D	0.87578	0.997;0.515;0.998	T	0.25710	-1.0124	10	0.72032	D	0.01	-32.7976	16.3426	0.83092	0.0:0.0:0.0:1.0	.	622;605;598	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	H	598;605;622	ENSP00000355890:N598H	ENSP00000355890:N598H	N	-	1	0	EPRS	218246229	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.758000	0.85224	2.317000	0.78254	0.460000	0.39030	AAC		0.353	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		10	87	0	0	0	1	0	10	87				
SWAP70	23075	broad.mit.edu	37	11	9735165	9735165	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9735165A>G	ENST00000318950.6	+	3	496	c.393A>G	c.(391-393)ccA>ccG	p.P131P	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	131					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACAAGTATCCATTAATTATTG	0.343																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(391-393)ccA>ccG		SWAP switching B-cell complex 70kDa subunit							112.0	125.0	121.0					11																	9735165		2201	4294	6495	SO:0001819	synonymous_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9735165A>G	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.393A>G	11.37:g.9735165A>G						SWAP70_ENST00000447399.2_Intron	p.P131P	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	3	496	+			131					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	c.393A>G	CCDS31426.1																																																																																				0.343	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		6	207	0	0	0	1	0	6	207				
ABCA12	26154	broad.mit.edu	37	2	215838767	215838767	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215838767C>A	ENST00000272895.7	-	36	5688		c.e36-1		ABCA12_ENST00000389661.4_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACACTGTCTGCAAGTTAA	0.368																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.e36-1		ATP-binding cassette, sub-family A (ABC1), member 12							209.0	186.0	194.0					2																	215838767		2203	4300	6503	SO:0001630	splice_region_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215838767C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5469-1G>T	2.37:g.215838767C>A						ABCA12_ENST00000389661.4_Splice_Site		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	36	5688	-		Renal(323;0.127)						Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37		CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012830	0.19277	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6083	0.88045	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA12	215547012	0.998000	0.40836	0.224000	0.23877	0.008000	0.06430	4.927000	0.63440	2.595000	0.87683	0.557000	0.71058	.		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Intron	19	34	1	0	1.67942e-08	1	2.01326e-08	19	34				
NR1H3	10062	broad.mit.edu	37	11	47282815	47282815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282815C>T	ENST00000467728.1	+	4	1761	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R175C|NR1H3_ENST00000481889.2_Missense_Mutation_p.R130C|NR1H3_ENST00000441012.2_Missense_Mutation_p.R175C|NR1H3_ENST00000405576.1_Missense_Mutation_p.R130C|NR1H3_ENST00000395397.3_Missense_Mutation_p.R130C|NR1H3_ENST00000527949.1_Missense_Mutation_p.R84C|NR1H3_ENST00000407404.1_Missense_Mutation_p.R175C			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	175					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGAACAGATCCGCCTGAAGAA	0.597																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(523-525)Cgc>Tgc		nuclear receptor subfamily 1, group H, member 3							55.0	55.0	55.0					11																	47282815		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282815C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.523C>T	11.37:g.47282815C>T	ENSP00000420656:p.Arg175Cys					NR1H3_ENST00000481889.2_Missense_Mutation_p.R130C|NR1H3_ENST00000405576.1_Missense_Mutation_p.R130C|NR1H3_ENST00000407404.1_Missense_Mutation_p.R175C|NR1H3_ENST00000527949.1_Missense_Mutation_p.R84C|NR1H3_ENST00000441012.2_Missense_Mutation_p.R175C|NR1H3_ENST00000395397.3_Missense_Mutation_p.R130C|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R175C	p.R175C			Q13133	NR1H3_HUMAN			4	1761	+			175					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.523C>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287599	0.80803	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000531660;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;T;D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;0.48;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.33	5.33	0.75918	Zinc finger, NHR/GATA-type (1);	0.355162	0.33572	N	0.004773	D	0.97748	0.9261	M	0.66939	2.045	0.28135	N	0.930048	D;D;D;D;D	0.89917	0.998;0.999;0.999;1.0;1.0	P;D;P;D;D	0.68943	0.772;0.931;0.836;0.943;0.961	D	0.93810	0.7109	10	0.72032	D	0.01	.	19.9234	0.97095	0.0:1.0:0.0:0.0	.	181;130;175;130;175	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	C	130;130;130;175;41;175;175;130;175;175;175;175;175;84	ENSP00000378793:R130C;ENSP00000385073:R130C;ENSP00000433271:R130C;ENSP00000403798:R175C;ENSP00000434650:R41C;ENSP00000385801:R175C;ENSP00000391005:R175C;ENSP00000412636:R130C;ENSP00000415591:R175C;ENSP00000387946:R175C;ENSP00000403696:R175C;ENSP00000420656:R175C;ENSP00000384745:R175C;ENSP00000432073:R84C	ENSP00000378793:R130C	R	+	1	0	NR1H3	47239391	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.590000	0.53979	2.871000	0.98454	0.655000	0.94253	CGC		0.597	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			12	11	0	0	0	1	0	12	11				
SCAMP2	10066	broad.mit.edu	37	15	75140965	75140965	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75140965A>G	ENST00000268099.9	-	7	819	c.710T>C	c.(709-711)gTt>gCt	p.V237A		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	237					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGGGATGCCAACCAACTGGAT	0.483																																						ENST00000268099.9																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(709-711)gTt>gCt		secretory carrier membrane protein 2							61.0	57.0	59.0					15																	75140965		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75140965A>G	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.710T>C	15.37:g.75140965A>G	ENSP00000268099:p.Val237Ala						p.V237A	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN			7	819	-			237					B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.710T>C	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342739	0.82022	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.27104	1.69	5.71	5.71	0.89125	.	0.255526	0.38720	N	0.001597	T	0.34337	0.0894	M	0.71036	2.16	0.58432	D	0.999994	B;B	0.28713	0.112;0.22	B;B	0.34779	0.175;0.189	T	0.08932	-1.0698	10	0.36615	T	0.2	.	15.1769	0.72920	1.0:0.0:0.0:0.0	.	237;206	O15127;B3KU14	SCAM2_HUMAN;.	A	237;206	ENSP00000268099:V237A	ENSP00000268099:V237A	V	-	2	0	SCAMP2	72928018	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	9.183000	0.94887	2.188000	0.69820	0.533000	0.62120	GTT		0.483	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		3	30	0	0	0	1	0	3	30				
CYP2B7P	1556	broad.mit.edu	37	19	41448108	41448108	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41448108G>A	ENST00000599198.1	+	0	1015					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCCTCATGTCGCAGGTGGGCC	0.572																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														0							g.chr19:41448108G>A																													19.37:g.41448108G>A								NR_001278.1						0	1015	+									RNA	SNP	ENST00000599198.1	37			.	.	.	.	.	.	.	.	.	.	G	2.468	-0.322556	0.05350	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.35	-5.02	0.02982	.	0.520294	0.19515	N	0.112436	T	0.12518	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	T	0.39078	-0.9631	5	0.02654	T	1	.	6.5649	0.22507	0.6118:0.1467:0.2415:0.0	.	.	.	.	T	321	.	ENSP00000441190:A321T	A	+	1	0	AC008537.4	46139948	0.000000	0.05858	0.001000	0.08648	0.110000	0.19582	-0.300000	0.08243	-1.138000	0.02884	0.195000	0.17529	GCA		0.572	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			11	21	0	0	0	1	0	11	21				
GALNT16	57452	broad.mit.edu	37	14	69787427	69787427	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69787427G>T	ENST00000337827.4	+	2	504		c.e2-1		GALNT16_ENST00000448469.3_Splice_Site|GALNT16_ENST00000553669.1_Splice_Site	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16						protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CTTCATCTCAGGTGACAGGAA	0.607																																						ENST00000337827.4																			0											c.e2-1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							98.0	98.0	98.0					14																	69787427		2203	4300	6503	SO:0001630	splice_region_variant	57452							g.chr14:69787427G>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.178-1G>T	14.37:g.69787427G>T						GALNT16_ENST00000448469.3_Splice_Site|GALNT16_ENST00000553669.1_Splice_Site		NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					2	504	+								Q4KMG3|Q58A55|Q9ULT9	Splice_Site	SNP	ENST00000337827.4	37		CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202474	0.79127	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4869	0.95033	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNTL1	68857180	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.753000	0.62183	2.623000	0.88846	0.650000	0.86243	.		0.607	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	Intron	24	57	1	0	1.10923e-09	1	1.35296e-09	24	57				
SGK2	10110	broad.mit.edu	37	20	42194986	42194986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42194986C>T	ENST00000341458.4	+	1	250	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SGK2_ENST00000373077.1_Intron|SGK2_ENST00000426287.1_Missense_Mutation_p.P11S|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron|SGK2_ENST00000373100.1_Intron	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	11					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGGTAGGAAACCCTCAGGCGG	0.577																																						ENST00000341458.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(31-33)Ccc>Tcc		serum/glucocorticoid regulated kinase 2							89.0	94.0	92.0					20																	42194986		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42194986C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.31C>T	20.37:g.42194986C>T	ENSP00000340608:p.Pro11Ser					SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000426287.1_Missense_Mutation_p.P11S|SGK2_ENST00000423407.3_Intron	p.P11S	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	250	+		Myeloproliferative disorder(115;0.00452)	11					Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.31C>T	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	8.043	0.764301	0.15914	.	.	ENSG00000101049	ENST00000341458;ENST00000426287	T;T	0.70282	-0.39;-0.47	3.51	-6.59	0.01830	.	.	.	.	.	T	0.43478	0.1249	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	9	0.66056	D	0.02	.	6.315	0.21186	0.1655:0.5717:0.0:0.2629	.	11	Q9HBY8	SGK2_HUMAN	S	11	ENSP00000340608:P11S;ENSP00000412214:P11S	ENSP00000340608:P11S	P	+	1	0	SGK2	41628400	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.964000	0.03833	-1.463000	0.01904	-0.218000	0.12543	CCC		0.577	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			40	54	0	0	0	1	0	40	54				
PKP4	8502	broad.mit.edu	37	2	159536950	159536950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159536950C>A	ENST00000389759.3	+	22	3452	c.3340C>A	c.(3340-3342)Ctg>Atg	p.L1114M	AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.L1071M|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1114					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCATCAACAGCTGTATTATAG	0.328										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(3211-3213)Ctg>Atg		plakophilin 4							69.0	66.0	67.0					2																	159536950		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159536950C>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3340C>A	2.37:g.159536950C>A	ENSP00000374409:p.Leu1114Met	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.L1114M|AC005042.4_ENST00000442666.1_RNA	p.L1071M	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			21	3336	+			1114					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3211C>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497285	0.44455	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.76448	-1.0;-1.02	5.49	4.61	0.57282	.	0.686827	0.14241	N	0.332071	T	0.76630	0.4014	N	0.24115	0.695	0.53688	D	0.999978	D;D;D	0.67145	0.991;0.986;0.996	P;P;P	0.59056	0.73;0.742;0.851	T	0.73811	-0.3865	10	0.42905	T	0.14	-7.1251	10.8733	0.46896	0.0:0.8022:0.0:0.1978	.	1069;1071;1114	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	M	1071;1114	ENSP00000374407:L1071M;ENSP00000374409:L1114M	ENSP00000374407:L1071M	L	+	1	2	PKP4	159245196	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.391000	0.20784	1.453000	0.47775	0.655000	0.94253	CTG		0.328	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			33	67	1	0	2.42023e-17	1	3.13592e-17	33	67				
ACOX1	51	broad.mit.edu	37	17	73951917	73951917	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951917G>T	ENST00000301608.4	-	5	710	c.650C>A	c.(649-651)cCt>cAt	p.P217H	ACOX1_ENST00000537812.1_Missense_Mutation_p.P179H|ACOX1_ENST00000293217.5_Missense_Mutation_p.P217H|ACOX1_ENST00000591857.1_5'Flank	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	217					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	ACCTGGCAAAGGCTTATGGGT	0.428																																						ENST00000537812.1																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(535-537)cCt>cAt		acyl-CoA oxidase 1, palmitoyl							198.0	183.0	188.0					17																	73951917		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73951917G>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.650C>A	17.37:g.73951917G>T	ENSP00000301608:p.Pro217His					ACOX1_ENST00000301608.4_Missense_Mutation_p.P217H|ACOX1_ENST00000293217.5_Missense_Mutation_p.P217H	p.P179H	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			5	1184	-			217					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.536C>A	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171011	0.94807	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.64618	-0.11;-0.11;-0.11	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	H	0.97186	3.955	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.64;0.9	D;D;P;P	0.77557	0.99;0.99;0.459;0.631	D	0.90304	0.4332	10	0.87932	D	0	-23.2641	20.5827	0.99408	0.0:0.0:1.0:0.0	.	149;179;217;217	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	H	217;217;179;217;149	ENSP00000301608:P217H;ENSP00000293217:P217H;ENSP00000441257:P179H	ENSP00000293217:P217H	P	-	2	0	ACOX1	71463512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.154000	0.94694	2.941000	0.99782	0.655000	0.94253	CCT		0.428	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			24	209	1	0	7.92952e-12	1	9.92272e-12	24	209				
PRRC2A	7916	broad.mit.edu	37	6	31598957	31598957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31598957C>T	ENST00000376033.2	+	16	2741	c.2507C>T	c.(2506-2508)gCc>gTc	p.A836V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A836V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	836	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTATCTGGCCAGTTATCCA	0.577																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2506-2508)gCc>gTc		proline-rich coiled-coil 2A							94.0	107.0	102.0					6																	31598957		1510	2709	4219	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31598957C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2507C>T	6.37:g.31598957C>T	ENSP00000365201:p.Ala836Val					PRRC2A_ENST00000376007.4_Missense_Mutation_p.A836V	p.A836V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	2741	+			836			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2507C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296723	0.23650	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01963	4.53;4.53	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000034	T	0.01029	0.0034	N	0.19112	0.55	0.38388	D	0.945315	P	0.49783	0.928	B	0.39706	0.307	T	0.66344	-0.5947	10	0.87932	D	0	-11.7935	13.6732	0.62438	0.0:0.8439:0.1561:0.0	.	836	P48634	PRC2A_HUMAN	V	836;825;836;836;61	ENSP00000365175:A836V;ENSP00000365201:A836V	ENSP00000365175:A836V	A	+	2	0	PRRC2A	31706936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.071000	0.41500	2.653000	0.90120	0.561000	0.74099	GCC		0.577	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		31	60	0	0	0	1	0	31	60				
OR8B2	26595	broad.mit.edu	37	11	124252823	124252823	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124252823C>A	ENST00000375013.2	-	1	435	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGAACAGACCTGATGGGACA	0.463																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(415-417)caG>caT		olfactory receptor, family 8, subfamily B, member 2							26.0	25.0	25.0					11																	124252823		2201	4292	6493	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252823C>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.417G>T	11.37:g.124252823C>A	ENSP00000364152:p.Gln139His						p.Q139H	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	435	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	139					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.417G>T	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	12.50	1.955246	0.34471	.	.	ENSG00000204293	ENST00000375013	T	0.37235	1.21	4.1	-0.254	0.12992	GPCR, rhodopsin-like superfamily (1);	0.460951	0.20688	N	0.087507	T	0.21962	0.0529	L	0.39326	1.205	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.12578	-1.0542	10	0.42905	T	0.14	.	1.8861	0.03238	0.2756:0.4267:0.1345:0.1632	.	139	Q96RD0	OR8B2_HUMAN	H	139	ENSP00000364152:Q139H	ENSP00000364152:Q139H	Q	-	3	2	OR8B2	123758033	0.000000	0.05858	0.000000	0.03702	0.644000	0.38419	-1.613000	0.02059	-0.116000	0.11893	0.400000	0.26472	CAG		0.463	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		8	13	1	0	5.4927e-09	1	6.6252e-09	8	13				
CNTN4	152330	broad.mit.edu	37	3	3078900	3078900	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3078900C>T	ENST00000397461.1	+	17	2364	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Silent_p.T660T|CNTN4_ENST00000397459.2_Silent_p.T332T|CNTN4_ENST00000427331.1_Silent_p.T660T|CNTN4_ENST00000358480.3_Silent_p.T441T|CNTN4_ENST00000448906.2_Silent_p.T332T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	660	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCACAGCGACCGTGGTGGGTT	0.498																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1978-1980)acC>acT		contactin 4							157.0	157.0	157.0					3																	3078900		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078900C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1980C>T	3.37:g.3078900C>T						CNTN4_ENST00000427331.1_Silent_p.T660T|CNTN4_ENST00000358480.3_Silent_p.T441T|CNTN4_ENST00000418658.1_Silent_p.T660T|CNTN4_ENST00000397459.2_Silent_p.T332T|CNTN4_ENST00000448906.2_Silent_p.T332T	p.T660T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2364	+		Ovarian(110;0.156)	660			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1980C>T	CCDS43041.1																																																																																				0.498	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			80	108	0	0	0	1	0	80	108				
TXNIP	10628	broad.mit.edu	37	1	145440773	145440773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145440773C>A	ENST00000369317.4	+	6	1307	c.973C>A	c.(973-975)Cct>Act	p.P325T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	325					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAACATCCCTGATACCCC	0.498																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(973-975)Cct>Act		thioredoxin interacting protein							103.0	100.0	101.0					1																	145440773		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440773C>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.973C>A	1.37:g.145440773C>A	ENSP00000358323:p.Pro325Thr					TXNIP_ENST00000475171.1_Intron	p.P325T	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			6	1307	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		325					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.973C>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249985	0.59212	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.06449	3.3;3.3	5.05	5.05	0.67936	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.15739	0.0379	M	0.67700	2.07	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.00395	-1.1766	10	0.45353	T	0.12	-15.6199	15.9547	0.79876	0.0:1.0:0.0:0.0	.	270;325	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	T	325;270	ENSP00000358323:P325T;ENSP00000396322:P270T	ENSP00000358323:P325T	P	+	1	0	TXNIP	144152130	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	6.400000	0.73252	2.642000	0.89623	0.563000	0.77884	CCT		0.498	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		5	93	1	0	0.000602214	1	0.000649039	5	93				
KIF1A	547	broad.mit.edu	37	2	241722503	241722503	+	Silent	SNP	C	C	T	rs553008418		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241722503C>T	ENST00000320389.7	-	9	980	c.822G>A	c.(820-822)tcG>tcA	p.S274S	KIF1A_ENST00000498729.2_Silent_p.S274S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	274	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTGGTCAGCGACTTGTTGA	0.652													c|||	1	0.000199681	0.0	0.0	5008	,	,		16757	0.0		0.0	False		,,,				2504	0.001					ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(820-822)tcG>tcA		kinesin family member 1A							91.0	107.0	102.0					2																	241722503		2004	4156	6160	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241722503C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.822G>A	2.37:g.241722503C>T						KIF1A_ENST00000320389.7_Silent_p.S274S	p.S274S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	9	1068	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	274			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.822G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	c	1.946	-0.442351	0.04604	.	.	ENSG00000130294	ENST00000428768	.	.	.	3.54	0.528	0.17089	.	.	.	.	.	T	0.41282	0.1152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21690	-1.0238	4	.	.	.	.	0.8756	0.01223	0.1918:0.1562:0.3601:0.292	.	.	.	.	T	82	.	.	A	-	1	0	KIF1A	241371176	0.001000	0.12720	0.975000	0.42487	0.146000	0.21551	-0.141000	0.10327	-0.140000	0.11394	-1.141000	0.01876	GCT		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		22	38	0	0	0	1	0	22	38				
KMT2B	9757	broad.mit.edu	37	19	36214652	36214652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36214652G>A	ENST00000222270.7	+	8	3078	c.3078G>A	c.(3076-3078)acG>acA	p.T1026T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.T1026T	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1026					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TAGTGAAGACGCTGTTGCCCT	0.657																																						ENST00000420124.1																			0											c.(3076-3078)acG>acA									11.0	12.0	12.0					19																	36214652		1770	3792	5562	SO:0001819	synonymous_variant	0							g.chr19:36214652G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3078G>A	19.37:g.36214652G>A						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.T1026T	p.T1026T							8	3078	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.3078G>A	CCDS46055.1																																																																																				0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	8	0	0	0	1	0	4	8				
SFMBT1	51460	broad.mit.edu	37	3	52946575	52946575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52946575C>T	ENST00000394752.3	-	16	2091	c.1709G>A	c.(1708-1710)tGt>tAt	p.C570Y	SFMBT1_ENST00000296295.6_Missense_Mutation_p.C570Y|SFMBT1_ENST00000394750.1_Missense_Mutation_p.C570Y|SFMBT1_ENST00000358080.2_Missense_Mutation_p.C570Y	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	570					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTCCCCACATCCGTGCCA	0.478																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1708-1710)tGt>tAt		Scm-like with four mbt domains 1							102.0	96.0	98.0					3																	52946575		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52946575C>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1709G>A	3.37:g.52946575C>T	ENSP00000378235:p.Cys570Tyr					SFMBT1_ENST00000296295.6_Missense_Mutation_p.C570Y|SFMBT1_ENST00000394750.1_Missense_Mutation_p.C570Y|SFMBT1_ENST00000358080.2_Missense_Mutation_p.C570Y	p.C570Y	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	16	2091	-			570					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.1709G>A	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637843	0.47049	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.24	4.29	0.51040	.	0.109676	0.64402	D	0.000008	T	0.12178	0.0296	N	0.02011	-0.69	0.36437	D	0.865277	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.36456	-0.9747	10	0.02654	T	1	.	4.2945	0.10895	0.0:0.714:0.0:0.286	.	570;570	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	Y	570	ENSP00000378235:C570Y;ENSP00000350789:C570Y;ENSP00000296295:C570Y;ENSP00000378233:C570Y	ENSP00000296295:C570Y	C	-	2	0	SFMBT1	52921615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.500000	0.66943	2.725000	0.93324	0.557000	0.71058	TGT		0.478	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		21	40	0	0	0	1	0	21	40				
TRPM1	4308	broad.mit.edu	37	15	31355430	31355430	+	Missense_Mutation	SNP	C	C	T	rs199544597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31355430C>T	ENST00000256552.6	-	8	1003	c.856G>A	c.(856-858)Gtc>Atc	p.V286I	TRPM1_ENST00000542188.1_Missense_Mutation_p.V303I|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.V264I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TATTCCAAGACGATGGACACC	0.592													C|||	0	0.0	0.0	0.0	5008	,	,		17713	0.0		0.0	False		,,,				2504	0.0					ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(907-909)Gtc>Atc		transient receptor potential cation channel, subfamily M, member 1							83.0	93.0	89.0					15																	31355430		2051	4196	6247	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355430C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.856G>A	15.37:g.31355430C>T	ENSP00000256552:p.Val286Ile					TRPM1_ENST00000256552.6_Missense_Mutation_p.V286I|TRPM1_ENST00000397795.2_Missense_Mutation_p.V264I	p.V303I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	7	1220	-		all_lung(180;1.92e-11)	264						Missense_Mutation	SNP	ENST00000256552.6	37	c.907G>A	CCDS58346.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	29.3	4.995382	0.93167	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.35605	1.3;1.3;1.3	5.67	5.67	0.87782	.	0.107611	0.64402	D	0.000007	T	0.45296	0.1335	L	0.39898	1.24	0.58432	D	0.999996	D;P	0.60160	0.987;0.902	P;B	0.57204	0.815;0.256	T	0.10337	-1.0634	10	0.10902	T	0.67	-41.6171	19.7848	0.96432	0.0:1.0:0.0:0.0	.	264;264	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	264;303;286;264	ENSP00000380897:V264I;ENSP00000437849:V303I;ENSP00000256552:V286I	ENSP00000256552:V286I	V	-	1	0	TRPM1	29142722	1.000000	0.71417	0.897000	0.35233	0.985000	0.73830	6.032000	0.70918	2.673000	0.90976	0.655000	0.94253	GTC		0.592	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		24	64	0	0	0	1	0	24	64				
LRRC20	55222	broad.mit.edu	37	10	72136267	72136267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72136267G>A	ENST00000355790.4	-	2	500	c.23C>T	c.(22-24)gCc>gTc	p.A8V	LRRC20_ENST00000358141.2_Missense_Mutation_p.A8V|LRRC20_ENST00000395010.1_Missense_Mutation_p.A8V|LRRC20_ENST00000395011.1_Missense_Mutation_p.A8V|LRRC20_ENST00000373224.1_Missense_Mutation_p.A8V	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	8										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTGGCCACGGCCTCACCCAT	0.612																																						ENST00000355790.4																			0				endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(22-24)gCc>gTc		leucine rich repeat containing 20							160.0	134.0	143.0					10																	72136267		2203	4300	6503	SO:0001583	missense	55222							g.chr10:72136267G>A	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.23C>T	10.37:g.72136267G>A	ENSP00000348043:p.Ala8Val					LRRC20_ENST00000395010.1_Missense_Mutation_p.A8V|LRRC20_ENST00000358141.2_Missense_Mutation_p.A8V|LRRC20_ENST00000373224.1_Missense_Mutation_p.A8V|LRRC20_ENST00000395011.1_Missense_Mutation_p.A8V	p.A8V	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN			2	500	-			8					Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	c.23C>T	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621690	0.87460	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000395010;ENST00000358141;ENST00000357631;ENST00000446961	T;T;T;T;T	0.36878	1.23;1.23;2.16;2.16;1.23	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.66939	2.045	0.52501	D	0.999955	D;B;B	0.67145	0.996;0.419;0.295	D;B;B	0.70935	0.971;0.275;0.063	T	0.59815	-0.7383	10	0.66056	D	0.02	-22.1422	14.1152	0.65149	0.0:0.0:1.0:0.0	.	8;8;8	Q8TCA0-2;Q8TCA0-3;Q8TCA0	.;.;LRC20_HUMAN	V	8	ENSP00000362321:A8V;ENSP00000348043:A8V;ENSP00000378458:A8V;ENSP00000350860:A8V;ENSP00000413745:A8V	ENSP00000348043:A8V	A	-	2	0	LRRC20	71806273	1.000000	0.71417	0.980000	0.43619	0.946000	0.59487	5.267000	0.65530	2.398000	0.81561	0.555000	0.69702	GCC		0.612	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1	NM_018239		40	56	0	0	0	1	0	40	56				
PARP4	143	broad.mit.edu	37	13	25009094	25009094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25009094G>A	ENST00000381989.3	-	31	4290	c.4185C>T	c.(4183-4185)ccC>ccT	p.P1395P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1395					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCCACAATAGGGTGAAGAAG	0.552																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4183-4185)ccC>ccT		poly (ADP-ribose) polymerase family, member 4							45.0	47.0	47.0					13																	25009094		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25009094G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4185C>T	13.37:g.25009094G>A							p.P1395P	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4290	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1395					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.4185C>T	CCDS9307.1																																																																																				0.552	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		16	22	0	0	0	1	0	16	22				
DHX38	9785	broad.mit.edu	37	16	72141254	72141254	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141254C>T	ENST00000268482.3	+	20	3125	c.2616C>T	c.(2614-2616)agC>agT	p.S872S	DHX38_ENST00000536867.1_Silent_p.S184S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	872	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACCCAGAGCGCCTACAAGA	0.592																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2614-2616)agC>agT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							49.0	44.0	46.0					16																	72141254		2198	4299	6497	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72141254C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2616C>T	16.37:g.72141254C>T						DHX38_ENST00000536867.1_Silent_p.S184S	p.S872S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			20	3125	+		Ovarian(137;0.125)	872			Helicase C-terminal.		B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.2616C>T	CCDS10907.1																																																																																				0.592	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		17	29	0	0	0	1	0	17	29				
PCDHA11	56138	broad.mit.edu	37	5	140249965	140249965	+	Missense_Mutation	SNP	C	C	T	rs373356425		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249965C>T	ENST00000398640.2	+	1	1277	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGACTGCGCGGGATGGG	0.622																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1276-1278)gCg>gTg				C	,,VAL/ALA,,,,,,,,,,,,VAL/ALA	0,4406		0,0,2203	145.0	151.0	149.0		,,1277,,,,,,,,,,,,1277	4.8	0.1	5		149	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,64,,,,,,,,,,,,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	,,426/950,,,,,,,,,,,,426/811	140249965	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr5:140249965C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1277C>T	5.37:g.140249965C>T	ENSP00000381636:p.Ala426Val					PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.A426V	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1277	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1277C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318104	0.40996	0.0	1.16E-4	ENSG00000249158	ENST00000398640	T	0.30182	1.54	5.66	4.79	0.61399	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.42314	0.1197	L	0.47078	1.49	0.38745	D	0.953972	D;D	0.59767	0.986;0.979	P;P	0.59546	0.859;0.573	T	0.43972	-0.9358	9	0.62326	D	0.03	.	10.6492	0.45638	0.0:0.7933:0.1346:0.0721	.	426;426	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	426	ENSP00000381636:A426V	ENSP00000381636:A426V	A	+	2	0	PCDHA11	140230149	0.998000	0.40836	0.134000	0.22075	0.572000	0.35998	3.693000	0.54735	1.371000	0.46172	0.558000	0.71614	GCG		0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		44	75	0	0	0	1	0	44	75				
TSSK2	23617	broad.mit.edu	37	22	19118978	19118978	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19118978C>A	ENST00000399635.2	+	1	658	c.66C>A	c.(64-66)tcC>tcA	p.S22S	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	22	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCAAGGGTTCCTACGCAAAAG	0.517																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(64-66)tcC>tcA		testis-specific serine kinase 2							80.0	67.0	71.0					22																	19118978		2203	4300	6503	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19118978C>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.66C>A	22.37:g.19118978C>A						DGCR14_ENST00000252137.6_3'UTR	p.S22S	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	658	+	Colorectal(54;0.0993)		22			Protein kinase.		Q8IY55	Silent	SNP	ENST00000399635.2	37	c.66C>A	CCDS13755.1																																																																																				0.517	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			15	20	1	0	0.00244969	1	0.00259885	15	20				
STAT6	6778	broad.mit.edu	37	12	57490680	57490680	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57490680T>A	ENST00000300134.3	-	21	2632	c.2307A>T	c.(2305-2307)gaA>gaT	p.E769D	STAT6_ENST00000454075.3_Missense_Mutation_p.E769D|STAT6_ENST00000538913.2_Missense_Mutation_p.E659D|STAT6_ENST00000543873.2_Missense_Mutation_p.E769D|STAT6_ENST00000537215.2_Missense_Mutation_p.E659D|STAT6_ENST00000556155.1_Missense_Mutation_p.E769D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	769					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCAGCTGTCTTCCACCATGG	0.642																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(2305-2307)gaA>gaT		signal transducer and activator of transcription 6, interleukin-4 induced							51.0	50.0	50.0					12																	57490680		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490680T>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2307A>T	12.37:g.57490680T>A	ENSP00000300134:p.Glu769Asp					STAT6_ENST00000538913.2_Missense_Mutation_p.E659D|STAT6_ENST00000537215.2_Missense_Mutation_p.E659D|STAT6_ENST00000556155.1_Missense_Mutation_p.E769D|STAT6_ENST00000543873.2_Missense_Mutation_p.E769D|STAT6_ENST00000454075.3_Missense_Mutation_p.E769D	p.E769D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			21	2632	-			769					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2307A>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313029	0.81358	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	D;D;D;D;D;D	0.92348	-2.76;-3.02;-2.76;-2.76;-3.02;-2.76	4.6	2.07	0.26955	.	0.452781	0.19193	N	0.120396	D	0.90024	0.6885	N	0.24115	0.695	0.27666	N	0.946904	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.81495	-0.0907	10	0.33940	T	0.23	-12.7789	6.5909	0.22646	0.0:0.2027:0.0:0.7973	.	769;769	A8K4S9;P42226	.;STAT6_HUMAN	D	769;659;659;769;769;659;769;659	ENSP00000300134:E769D;ENSP00000445409:E659D;ENSP00000438451:E769D;ENSP00000451742:E769D;ENSP00000444530:E659D;ENSP00000401486:E769D	ENSP00000300134:E769D	E	-	3	2	STAT6	55776947	0.998000	0.40836	0.997000	0.53966	0.956000	0.61745	0.175000	0.16762	0.758000	0.33059	0.459000	0.35465	GAA		0.642	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		4	40	0	0	0	1	0	4	40				
MAGEA11	4110	broad.mit.edu	37	X	148798334	148798334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148798334G>T	ENST00000355220.5	+	5	1290	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K367N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	396	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGACCAGCAAGATGAAAGTTC	0.547																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1186-1188)aaG>aaT		melanoma antigen family A, 11							163.0	135.0	144.0					X																	148798334		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798334G>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1188G>T	X.37:g.148798334G>T	ENSP00000347358:p.Lys396Asn					MAGEA11_ENST00000333104.4_Missense_Mutation_p.K367N	p.K396N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	1290	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		396			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1188G>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	15.98	2.993563	0.54041	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05855	3.38;3.38	0.976	0.976	0.19727	.	.	.	.	.	T	0.27098	0.0664	H	0.97214	3.96	0.09310	N	0.999998	P;P	0.50066	0.904;0.931	P;P	0.55391	0.709;0.775	T	0.09552	-1.0669	8	.	.	.	.	4.9662	0.14091	0.0:0.0:1.0:0.0	.	367;396	G5E962;P43364	.;MAGAB_HUMAN	N	367;396	ENSP00000328177:K367N;ENSP00000347358:K396N	.	K	+	3	2	MAGEA11	148576071	0.035000	0.19736	0.231000	0.23993	0.680000	0.39746	0.387000	0.20718	0.761000	0.33130	0.429000	0.28392	AAG		0.547	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		9	204	1	0	3.09899e-07	1	3.63227e-07	9	204				
TJP2	9414	broad.mit.edu	37	9	71833262	71833262	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71833262A>G	ENST00000377245.4	+	4	537	c.329A>G	c.(328-330)aAg>aGg	p.K110R	TJP2_ENST00000453658.2_Missense_Mutation_p.K87R|TJP2_ENST00000535702.1_Missense_Mutation_p.K114R|TJP2_ENST00000265384.7_Missense_Mutation_p.K110R|TJP2_ENST00000348208.4_Missense_Mutation_p.K110R|TJP2_ENST00000539225.1_Missense_Mutation_p.K141R|TJP2_ENST00000377259.1_Missense_Mutation_p.K87R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	110	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAAGTGGGAAGGTCGCTGCT	0.433																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(328-330)aAg>aGg		tight junction protein 2							138.0	115.0	123.0					9																	71833262		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71833262A>G	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.329A>G	9.37:g.71833262A>G	ENSP00000366453:p.Lys110Arg					TJP2_ENST00000453658.2_Missense_Mutation_p.K87R|TJP2_ENST00000265384.7_Missense_Mutation_p.K110R|TJP2_ENST00000377259.1_Missense_Mutation_p.K87R|TJP2_ENST00000539225.1_Missense_Mutation_p.K141R|TJP2_ENST00000535702.1_Missense_Mutation_p.K114R|TJP2_ENST00000348208.4_Missense_Mutation_p.K110R	p.K110R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			4	537	+			110			PDZ 1.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.329A>G	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	32	5.133633	0.94517	.	.	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.77	5.77	0.91146	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.45051	1.395	0.80722	D	1	B;D;D;D;B	0.76494	0.198;0.998;0.997;0.999;0.364	B;D;D;D;P	0.91635	0.346;0.998;0.995;0.999;0.59	T	0.48352	-0.9043	10	0.66056	D	0.02	.	16.0957	0.81123	1.0:0.0:0.0:0.0	.	141;114;110;110;110	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	R	87;87;87;110;110;110;114;141	ENSP00000392178:K87R;ENSP00000366469:K87R;ENSP00000402941:K87R;ENSP00000366453:K110R;ENSP00000345893:K110R;ENSP00000265384:K110R;ENSP00000442090:K114R;ENSP00000438262:K141R	ENSP00000265384:K110R	K	+	2	0	TJP2	71023082	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.095000	0.94175	2.199000	0.70637	0.533000	0.62120	AAG		0.433	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		10	21	0	0	0	1	0	10	21				
RDX	5962	broad.mit.edu	37	11	110124812	110124812	+	Missense_Mutation	SNP	C	C	T	rs142346566		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124812C>T	ENST00000343115.4	-	9	1137	c.818G>A	c.(817-819)cGt>cAt	p.R273H	RDX_ENST00000405097.1_Missense_Mutation_p.R273H|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.R273H|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.R137H	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	273	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GATTCTCAGACGAGGTGCATA	0.343													C|||	0	0.0	0.0	0.0	5008	,	,		17407	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(817-819)cGt>cAt		radixin							85.0	76.0	79.0					11																	110124812		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110124812C>T	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.818G>A	11.37:g.110124812C>T	ENSP00000342830:p.Arg273His					RDX_ENST00000405097.1_Missense_Mutation_p.R273H|RDX_ENST00000528498.1_Missense_Mutation_p.R273H|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.R137H	p.R273H	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	9	1137	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	273			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.818G>A	CCDS8343.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.4	4.733416	0.89482	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.72	5.72	0.89469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	M	0.85373	2.75	0.80722	D	1	P;D;B	0.76494	0.719;0.999;0.24	B;D;B	0.64506	0.198;0.926;0.085	D	0.92571	0.6066	10	0.87932	D	0	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	137;273;273	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	H	273;273;273;273;137	ENSP00000432112:R273H;ENSP00000384136:R273H;ENSP00000342830:R273H;ENSP00000445826:R137H	ENSP00000342830:R273H	R	-	2	0	RDX	109630022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.765000	0.85310	2.705000	0.92388	0.655000	0.94253	CGT		0.343	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		22	22	0	0	0	1	0	22	22				
GIGYF2	26058	broad.mit.edu	37	2	233681715	233681715	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681715G>T	ENST00000409547.1	+	22	2654	c.2343G>T	c.(2341-2343)gaG>gaT	p.E781D	GIGYF2_ENST00000452341.2_Missense_Mutation_p.E612D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E775D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E802D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E803D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E781D|GIGYF2_ENST00000373566.3_Missense_Mutation_p.E803D	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	781	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAAGGCGAGAGGAAGAAGAAC	0.473																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2407-2409)gaG>gaT		GRB10 interacting GYF protein 2							223.0	209.0	214.0					2																	233681715		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233681715G>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2343G>T	2.37:g.233681715G>T	ENSP00000386537:p.Glu781Asp					GIGYF2_ENST00000409451.3_Missense_Mutation_p.E802D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E775D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E803D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E781D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E781D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E612D	p.E803D			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	21	2606	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	781			Gln-rich.|Glu-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2409G>T	CCDS33401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.003592|2.003592	0.35320|0.35320	.|.	.|.	ENSG00000204120|ENSG00000204120	ENST00000535418|ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	.|T;T;T;T;T;T;T;T	.|0.78003	.|-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.14	3.89|3.89	1.28|1.28	0.21552|0.21552	.|.	.|0.093654	.|0.64402	.|D	.|0.000001	.|T	.|0.81721	.|0.4882	M|M	0.62723|0.62723	1.935|1.935	0.42829|0.42829	D|D	0.994018|0.994018	.|D;D;D;D	.|0.67145	.|0.996;0.984;0.984;0.984	.|D;D;D;D	.|0.75484	.|0.986;0.935;0.935;0.935	.|T	.|0.77250	.|-0.2657	.|10	.|0.33940	.|T	.|0.23	.|-17.0802	6.3653|6.3653	0.21451|0.21451	0.4738:0.0:0.5261:0.0|0.4738:0.0:0.5261:0.0	.|.	.|612;802;781;775	.|E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.|.;.;PERQ2_HUMAN;.	.|D	-1|803;781;803;781;775;802;775;612	.|ENSP00000362667:E803D;ENSP00000362664:E781D;ENSP00000386765:E803D;ENSP00000386537:E781D;ENSP00000387070:E775D;ENSP00000387170:E802D;ENSP00000410297:E775D;ENSP00000411505:E612D	.|ENSP00000362664:E781D	.|E	+|+	.|3	.|2	GIGYF2|GIGYF2	233389959|233389959	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.415000|0.415000	0.31203|0.31203	0.128000|0.128000	0.15810|0.15810	0.535000|0.535000	0.28714|0.28714	0.561000|0.561000	0.74099|0.74099	.|GAG		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		10	252	1	0	5.16669e-11	1	6.41398e-11	10	252				
MAP1B	4131	broad.mit.edu	37	5	71491726	71491726	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71491726C>T	ENST00000296755.7	+	5	2842	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	848					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAAGAGGTCGATGTAACAA	0.488																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2542-2544)gtC>gtT		microtubule-associated protein 1B							121.0	119.0	120.0					5																	71491726		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491726C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2544C>T	5.37:g.71491726C>T							p.V848V	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2842	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	848					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.2544C>T	CCDS4012.1																																																																																				0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		49	78	0	0	0	1	0	49	78				
LRRC56	115399	broad.mit.edu	37	11	550080	550080	+	Silent	SNP	C	C	T	rs140852130	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:550080C>T	ENST00000270115.7	+	8	932	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	144										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAACTCTACGCCTCCTACA	0.657													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		18546	0.0		0.0	False		,,,				2504	0.0					ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(430-432)taC>taT		leucine rich repeat containing 56		C		26,4380	32.6+/-62.9	0,26,2177	98.0	96.0	97.0		432	-0.4	1.0	11	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	LRRC56	NM_198075.3		0,26,6477	TT,TC,CC		0.0,0.5901,0.1999		144/543	550080	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	115399							g.chr11:550080C>T		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.432C>T	11.37:g.550080C>T							p.Y144Y	NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	932	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	144					Q8N3Q4	Silent	SNP	ENST00000270115.7	37	c.432C>T	CCDS7700.1																																																																																				0.657	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		33	67	0	0	0	1	0	33	67				
SHMT2	6472	broad.mit.edu	37	12	57627032	57627032	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57627032C>T	ENST00000328923.3	+	8	1379	c.927C>T	c.(925-927)taC>taT	p.Y309Y	SHMT2_ENST00000553474.1_Silent_p.Y288Y|SHMT2_ENST00000393827.4_Silent_p.Y213Y|SHMT2_ENST00000414700.3_Silent_p.Y288Y|SHMT2_ENST00000557487.1_Silent_p.Y299Y|SHMT2_ENST00000449049.3_Silent_p.Y288Y	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	309					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	AGATCCCTTACACATTTGAGG	0.567																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(925-927)taC>taT		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						71.0	73.0	72.0					12																	57627032		2203	4300	6503	SO:0001819	synonymous_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57627032C>T	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.927C>T	12.37:g.57627032C>T						SHMT2_ENST00000553474.1_Silent_p.Y288Y|SHMT2_ENST00000557487.1_Silent_p.Y299Y|SHMT2_ENST00000414700.3_Silent_p.Y288Y|SHMT2_ENST00000393827.4_Silent_p.Y213Y|SHMT2_ENST00000449049.3_Silent_p.Y288Y	p.Y309Y	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			8	1379	+			309					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	c.927C>T	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981748	0.18812	.	.	ENSG00000182199	ENST00000557529	.	.	.	4.72	0.511	0.16989	.	.	.	.	.	T	0.45875	0.1364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-6.1528	4.5203	0.11956	0.1481:0.4946:0.0:0.3573	.	.	.	.	Y	109	.	.	H	+	1	0	SHMT2	55913299	0.981000	0.34729	0.993000	0.49108	0.971000	0.66376	0.206000	0.17375	0.299000	0.22661	0.491000	0.48974	CAC		0.567	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		12	32	0	0	0	1	0	12	32				
ZFAND1	79752	broad.mit.edu	37	8	82615065	82615065	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82615065G>T	ENST00000220669.5	-	8	690	c.672C>A	c.(670-672)gcC>gcA	p.A224A	ZFAND1_ENST00000521287.1_Silent_p.A117A|ZFAND1_ENST00000523096.1_Silent_p.A217A|ZFAND1_ENST00000521895.1_Missense_Mutation_p.L115I|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000522520.1_Silent_p.A117A	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	224							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCAAGGGTAAGGCTTCTCCTG	0.358																																						ENST00000521895.1																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(343-345)Ctt>Att		zinc finger, AN1-type domain 1							121.0	132.0	128.0					8																	82615065		2203	4300	6503	SO:0001819	synonymous_variant	79752						zinc ion binding	g.chr8:82615065G>T		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.672C>A	8.37:g.82615065G>T						ZFAND1_ENST00000521287.1_Silent_p.A117A|ZFAND1_ENST00000522520.1_Silent_p.A117A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000220669.5_Silent_p.A224A|ZFAND1_ENST00000523096.1_Silent_p.A217A	p.L115I			Q8TCF1	ZFAN1_HUMAN			7	602	-			0					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.343C>A	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551535	0.27739	.	.	ENSG00000104231	ENST00000521895	.	.	.	5.5	1.5	0.22942	.	.	.	.	.	T	0.41442	0.1159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08351	-1.0726	5	0.18710	T	0.47	.	5.8791	0.18846	0.0664:0.1216:0.5598:0.2522	.	.	.	.	I	115	.	ENSP00000429527:L115I	L	-	1	0	ZFAND1	82777620	0.998000	0.40836	0.996000	0.52242	0.995000	0.86356	0.420000	0.21263	-0.009000	0.14296	0.585000	0.79938	CTT		0.358	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		7	141	1	0	0.00448238	1	0.00472561	7	141				
EFEMP1	2202	broad.mit.edu	37	2	56144875	56144875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56144875G>A	ENST00000394555.2	-	4	877	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	EFEMP1_ENST00000355426.3_Missense_Mutation_p.R148C|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R90C|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R148C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	148					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGGAATGCGCTGAGGGTCA	0.552																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(442-444)Cgc>Tgc		EGF containing fibulin-like extracellular matrix protein 1							82.0	81.0	81.0					2																	56144875		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144875G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.442C>T	2.37:g.56144875G>A	ENSP00000378058:p.Arg148Cys					EFEMP1_ENST00000424836.2_Missense_Mutation_p.R90C|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R148C|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R148C	p.R148C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	877	-			148					A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.442C>T	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613874	0.87359	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.84070	-1.8;-1.8;-1.31;-1.8;-1.37	5.96	5.96	0.96718	.	0.088865	0.49916	D	0.000130	T	0.73385	0.3580	N	0.08118	0	0.52099	D	0.999942	D;D	0.76494	0.993;0.999	B;P	0.50490	0.446;0.642	T	0.71185	-0.4667	10	0.02654	T	1	.	18.9722	0.92719	0.0:0.0:1.0:0.0	.	90;148	B4DW75;Q12805	.;FBLN3_HUMAN	C	148;148;90;148;148	ENSP00000378058:R148C;ENSP00000378057:R148C;ENSP00000399145:R90C;ENSP00000347596:R148C;ENSP00000392055:R148C	ENSP00000347596:R148C	R	-	1	0	EFEMP1	55998379	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.722000	0.61958	2.833000	0.97629	0.650000	0.86243	CGC		0.552	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			38	54	0	0	0	1	0	38	54				
A1BG	1	broad.mit.edu	37	19	58862761	58862761	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58862761G>A	ENST00000263100.3	-	5	967	c.906C>T	c.(904-906)agC>agT	p.S302S	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	302	Ig-like V-type 4.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCTCACCATCGCTCAGAATCA	0.667																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(904-906)agC>agT		alpha-1-B glycoprotein							55.0	62.0	60.0					19																	58862761		2201	4298	6499	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58862761G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.906C>T	19.37:g.58862761G>A						A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	p.S302S	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	967	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	302			Ig-like V-type 4.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.906C>T	CCDS12976.1																																																																																				0.667	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		40	48	0	0	0	1	0	40	48				
KLHL13	90293	broad.mit.edu	37	X	117033091	117033091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117033091G>A	ENST00000262820.3	-	7	2657	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V	KLHL13_ENST00000540167.1_Missense_Mutation_p.A567V|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541V|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567V|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532V|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532V|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586V|KLHL13_ENST00000371876.1_Missense_Mutation_p.A532V|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCGAAGACAGCGACCCCAAC	0.418																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1594-1596)gCt>gTt		kelch-like family member 13							181.0	155.0	164.0					X																	117033091		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033091G>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1748C>T	X.37:g.117033091G>A	ENSP00000262820:p.Ala583Val					KLHL13_ENST00000262820.3_Missense_Mutation_p.A583V|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532V|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567V|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532V|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586V|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532V|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567V|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541V	p.A532V			Q9P2N7	KLH13_HUMAN			6	4016	-			583					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1595C>T	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.554925	0.86231	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.103199	0.64402	D	0.000003	T	0.81781	0.4895	L	0.41632	1.29	0.80722	D	1	P;D;P;D	0.58970	0.92;0.984;0.92;0.967	P;P;P;P	0.62014	0.73;0.891;0.73;0.897	T	0.78193	-0.2299	10	0.23302	T	0.38	.	17.9026	0.88909	0.0:0.0:1.0:0.0	.	567;586;577;583	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	532;532;532;532;567;567;586;583;541;532	ENSP00000360949:A532V;ENSP00000360943:A532V;ENSP00000360945:A532V;ENSP00000412640:A532V;ENSP00000444450:A567V;ENSP00000441029:A567V;ENSP00000443191:A586V;ENSP00000262820:A583V;ENSP00000440707:A541V;ENSP00000419803:A532V	ENSP00000262820:A583V	A	-	2	0	KLHL13	116917119	1.000000	0.71417	0.893000	0.35052	0.975000	0.68041	9.657000	0.98554	2.417000	0.82017	0.600000	0.82982	GCT		0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		75	99	0	0	0	1	0	75	99				
MARK2	2011	broad.mit.edu	37	11	63667395	63667395	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63667395T>G	ENST00000509502.2	+	8	945	c.482T>G	c.(481-483)tTt>tGt	p.F161C	MARK2_ENST00000508192.1_Missense_Mutation_p.F194C|MARK2_ENST00000361128.5_Missense_Mutation_p.F194C|MARK2_ENST00000408948.3_Missense_Mutation_p.F161C|MARK2_ENST00000413835.2_Missense_Mutation_p.F194C|MARK2_ENST00000350490.7_Missense_Mutation_p.F194C|MARK2_ENST00000315032.8_Missense_Mutation_p.F194C|MARK2_ENST00000402010.2_Missense_Mutation_p.F194C|MARK2_ENST00000377809.4_Missense_Mutation_p.F194C|MARK2_ENST00000425897.2_Missense_Mutation_p.F161C|MARK2_ENST00000513765.2_Missense_Mutation_p.F161C|MARK2_ENST00000502399.3_Missense_Mutation_p.F194C|MARK2_ENST00000377810.3_Missense_Mutation_p.F161C	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTGCAGACTTTGGCTTCAGC	0.478																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(580-582)tTt>tGt		MAP/microtubule affinity-regulating kinase 2							160.0	153.0	155.0					11																	63667395		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63667395T>G	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.482T>G	11.37:g.63667395T>G	ENSP00000423974:p.Phe161Cys					MARK2_ENST00000350490.7_Missense_Mutation_p.F194C|MARK2_ENST00000413835.2_Missense_Mutation_p.F194C|MARK2_ENST00000513765.2_Missense_Mutation_p.F161C|MARK2_ENST00000425897.2_Missense_Mutation_p.F161C|MARK2_ENST00000377809.4_Missense_Mutation_p.F194C|MARK2_ENST00000361128.5_Missense_Mutation_p.F194C|MARK2_ENST00000315032.8_Missense_Mutation_p.F194C|MARK2_ENST00000502399.3_Missense_Mutation_p.F194C|MARK2_ENST00000377810.3_Missense_Mutation_p.F161C|MARK2_ENST00000508192.1_Missense_Mutation_p.F194C|MARK2_ENST00000408948.3_Missense_Mutation_p.F161C|MARK2_ENST00000509502.2_Missense_Mutation_p.F161C	p.F194C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			8	1160	+			194			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.581T>G	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	t	25.9	4.684463	0.88639	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054485	0.85682	D	0.000000	D	0.88243	0.6384	H	0.99535	4.615	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	1.0;1.0;1.0;0.999;1.0;1.0	D	0.93020	0.6439	10	0.87932	D	0	.	14.7168	0.69275	0.0:0.0:0.0:1.0	.	161;161;194;194;194;194	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	C	194;194;194;194;161;194;194;194;194;161;161;161;161;161	ENSP00000385751:F194C;ENSP00000326632:F194C;ENSP00000367040:F194C;ENSP00000389184:F194C;ENSP00000367041:F161C;ENSP00000425765:F194C;ENSP00000355091:F194C;ENSP00000294247:F194C;ENSP00000444956:F161C;ENSP00000423974:F161C;ENSP00000421075:F161C;ENSP00000386128:F161C;ENSP00000415494:F161C	ENSP00000326632:F194C	F	+	2	0	MARK2	63423971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.865000	0.87049	2.305000	0.77605	0.529000	0.55759	TTT		0.478	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		19	166	0	0	0	1	0	19	166				
DNMT3B	1789	broad.mit.edu	37	20	31393213	31393213	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31393213G>T	ENST00000328111.2	+	21	2622	c.2301G>T	c.(2299-2301)aaG>aaT	p.K767N	DNMT3B_ENST00000344505.4_Splice_Site_p.K747N|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Splice_Site_p.K747N|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000201963.3_Splice_Site_p.K759N|DNMT3B_ENST00000443239.3_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	767	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATAGCCAAGGTAAGACGAG	0.498																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e21+1		DNA (cytosine-5-)-methyltransferase 3 beta							119.0	107.0	111.0					20																	31393213		2203	4300	6503	SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31393213G>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2301+1G>T	20.37:g.31393213G>T						DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000201963.3_Splice_Site_p.K759_splice|DNMT3B_ENST00000353855.2_Splice_Site_p.K747_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.K747_splice|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron	p.K767_splice	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			21	2622	+			767					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Splice_Site	SNP	ENST00000328111.2	37	c.2301_splice	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047481	0.93740	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000344505;ENST00000201963	D;D;T;D	0.96940	-4.18;-4.18;0.93;-4.18	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	M	0.72118	2.19	0.80722	D	1	D;D;D	0.60160	0.971;0.971;0.987	P;P;P	0.49047	0.599;0.599;0.588	D	0.95912	0.8924	10	0.44086	T	0.13	-34.9999	16.9307	0.86190	0.0:0.0:1.0:0.0	.	759;747;767	Q9UBC3-6;Q9UBC3-2;Q9UBC3	.;.;DNM3B_HUMAN	N	767;747;747;759	ENSP00000328547:K767N;ENSP00000313397:K747N;ENSP00000345105:K747N;ENSP00000201963:K759N	ENSP00000201963:K759N	K	+	3	2	DNMT3B	30856874	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.170000	0.94795	2.675000	0.91044	0.655000	0.94253	AAG		0.498	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Missense_Mutation	21	29	1	0	5.26018e-13	1	6.65277e-13	21	29				
MAGEE2	139599	broad.mit.edu	37	X	75003402	75003402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75003402C>T	ENST00000373359.2	-	1	1677	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	495	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGTTCTGGCCAGTTCTGTG	0.478																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1483-1485)tgG>tgA		melanoma antigen family E, 2							88.0	67.0	74.0					X																	75003402		2203	4300	6503	SO:0001587	stop_gained	139599							g.chrX:75003402C>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1485G>A	X.37:g.75003402C>T	ENSP00000362457:p.Trp495*						p.W495*	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	1677	-			495			MAGE 2.		Q5JSI5	Nonsense_Mutation	SNP	ENST00000373359.2	37	c.1485G>A	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487741	0.84854	.	.	ENSG00000186675	ENST00000373359	.	.	.	2.73	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	6.7829	0.23657	0.0:0.7129:0.2871:0.0	.	.	.	.	X	495	.	ENSP00000362457:W495X	W	-	3	0	MAGEE2	74920127	1.000000	0.71417	0.966000	0.40874	0.638000	0.38207	0.842000	0.27627	0.551000	0.29008	0.417000	0.27973	TGG		0.478	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		7	63	0	0	0	1	0	7	63				
SPRED1	161742	broad.mit.edu	37	15	38643407	38643407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38643407C>T	ENST00000299084.4	+	7	1737	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	293					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATCAGACTATCTGTACTCTTG	0.378									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4																			0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(877-879)Ctg>Ttg		sprouty-related, EVH1 domain containing 1							80.0	79.0	80.0					15																	38643407		2200	4297	6497	SO:0001819	synonymous_variant	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38643407C>T	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.877C>T	15.37:g.38643407C>T							p.L293L	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1737	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	293					B2RPJ8|Q05D53|Q8N256	Silent	SNP	ENST00000299084.4	37	c.877C>T	CCDS32193.1																																																																																				0.378	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			27	39	0	0	0	1	0	27	39				
LAMA3	3909	broad.mit.edu	37	18	21487720	21487720	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21487720G>A	ENST00000313654.9	+	54	7077	c.6836G>A	c.(6835-6837)gGt>gAt	p.G2279D	LAMA3_ENST00000399516.3_Splice_Site_p.G2223D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Splice_Site_p.G670D|LAMA3_ENST00000587184.1_Splice_Site_p.G614D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2279	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGTGCATTAGGTGATATTGAT	0.443																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.e54-1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153.0	145.0	148.0					18																	21487720		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21487720G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6836-1G>A	18.37:g.21487720G>A						LAMA3_ENST00000399516.3_Splice_Site_p.G2223_splice|LAMA3_ENST00000587184.1_Splice_Site_p.G614_splice|LAMA3_ENST00000269217.6_Splice_Site_p.G670_splice|LAMA3_ENST00000588770.1_3'UTR	p.G2279_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			54	7077	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2279			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37	c.6835_splice	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.818012	0.00595	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.17054	2.31;2.3;3.87	5.27	2.14	0.27477	.	.	.	.	.	T	0.06826	0.0174	N	0.04090	-0.28	0.39713	D	0.971354	B;B;B;B	0.12630	0.001;0.006;0.001;0.005	B;B;B;B	0.14023	0.002;0.01;0.004;0.007	T	0.32241	-0.9914	8	.	.	.	.	8.1981	0.31409	0.4675:0.0:0.5325:0.0	.	614;670;2223;2279	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	D	2279;2223;670	ENSP00000324532:G2279D;ENSP00000382432:G2223D;ENSP00000269217:G670D	.	G	+	2	0	LAMA3	19741718	1.000000	0.71417	0.715000	0.30552	0.025000	0.11179	0.863000	0.27913	0.270000	0.21984	0.655000	0.94253	GGT		0.443	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	48	75	0	0	0	1	0	48	75				
PROSER3	148137	broad.mit.edu	37	19	36259311	36259311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36259311C>T	ENST00000396908.4	+	12	1377	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	PRSR3_HUMAN		436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGGGAAGCGGATGCCCGA	0.627																																						ENST00000396908.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(1303-1305)gCg>gTg		chromosome 19 open reading frame 55							40.0	42.0	42.0					19																	36259311		876	1991	2867	SO:0001583	missense	148137							g.chr19:36259311C>T																												ENST00000396908.4:c.1304C>T	19.37:g.36259311C>T	ENSP00000380116:p.Ala435Val					C19orf55_ENST00000536037.1_Intron|C19orf55_ENST00000544099.1_3'UTR	p.A435V	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1377	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		436					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000396908.4	37	c.1304C>T		.	.	.	.	.	.	.	.	.	.	C	0.146	-1.096593	0.01843	.	.	ENSG00000167595	ENST00000396908	T	0.21543	2.0	5.22	3.15	0.36227	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.35699	-0.9778	6	0.06365	T	0.9	-0.5016	5.721	0.17986	0.0:0.2121:0.0:0.7879	.	.	.	.	V	435	ENSP00000380116:A435V	ENSP00000380116:A435V	A	+	2	0	C19orf55	40951151	0.996000	0.38824	0.967000	0.41034	0.038000	0.13279	0.863000	0.27913	1.087000	0.41251	-0.471000	0.05019	GCG		0.627	C19orf55-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				12	23	0	0	0	1	0	12	23				
DHCR7	1717	broad.mit.edu	37	11	71155082	71155082	+	Missense_Mutation	SNP	G	G	A	rs80338853		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71155082G>A	ENST00000355527.3	-	4	554	c.278C>T	c.(277-279)aCg>aTg	p.T93M	DHCR7_ENST00000407721.2_Missense_Mutation_p.T93M	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	93			T -> M (in SLOS). {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:11175299, ECO:0000269|PubMed:11427181, ECO:0000269|PubMed:9653161}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GGCTTTCCTCGTTATAGGTGG	0.632									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19	GRCh37	CM980543	DHCR7	M	rs80338853	c.(277-279)aCg>aTg		7-dehydrocholesterol reductase	NADH(DB00157)	G	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	51.0	39.0	43.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	278,278	3.5	0.2	11	dbSNP_131	43	0,8588		0,0,4294	yes	missense,missense	DHCR7	NM_001163817.1,NM_001360.2	81,81	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	93/476,93/476	71155082	1,12987	2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71155082G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.278C>T	11.37:g.71155082G>A	ENSP00000347717:p.Thr93Met					DHCR7_ENST00000407721.2_Missense_Mutation_p.T93M	p.T93M	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			4	554	-			93		T -> M (in SLOS).			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.278C>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667391	0.67814	2.27E-4	0.0	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780;ENST00000525346;ENST00000531364;ENST00000529990	D;D;D;D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.01;-3.17;-3.17;-3.8	4.49	3.5	0.40072	.	0.166750	0.51477	D	0.000091	D	0.98286	0.9432	M	0.82056	2.57	0.52099	A	0.999944	D	0.89917	1.0	D	0.69654	0.965	D	0.99887	1.1126	9	0.59425	D	0.04	-17.3896	11.9161	0.52765	0.0:0.1775:0.8225:0.0	.	93	Q9UBM7	DHCR7_HUMAN	M	93;93;93;61;93;93;93;73	ENSP00000384739:T93M;ENSP00000347717:T93M;ENSP00000435047:T61M;ENSP00000435668:T93M;ENSP00000435707:T93M;ENSP00000432589:T93M;ENSP00000435058:T73M	ENSP00000347717:T93M	T	-	2	0	DHCR7	70832730	0.993000	0.37304	0.164000	0.22755	0.044000	0.14063	2.283000	0.43470	2.209000	0.71365	0.462000	0.41574	ACG		0.632	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		5	16	0	0	0	1	0	5	16				
DGKH	160851	broad.mit.edu	37	13	42773749	42773749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42773749G>A	ENST00000337343.4	+	19	2354	c.2333G>A	c.(2332-2334)gGa>gAa	p.G778E	DGKH_ENST00000379274.2_Missense_Mutation_p.G642E|DGKH_ENST00000540693.1_Missense_Mutation_p.G778E|DGKH_ENST00000538674.1_Missense_Mutation_p.G533E|DGKH_ENST00000536612.1_Missense_Mutation_p.G642E|DGKH_ENST00000261491.5_Missense_Mutation_p.G778E|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	778					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGATTGGATTAGATGCA	0.284																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1924-1926)gGa>gAa		diacylglycerol kinase, eta							33.0	35.0	34.0					13																	42773749		2197	4283	6480	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42773749G>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2333G>A	13.37:g.42773749G>A	ENSP00000337572:p.Gly778Glu					DGKH_ENST00000536612.1_Missense_Mutation_p.G642E|DGKH_ENST00000337343.4_Missense_Mutation_p.G778E|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.G778E|DGKH_ENST00000538674.1_Missense_Mutation_p.G533E|DGKH_ENST00000261491.4_Missense_Mutation_p.G778E	p.G642E			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	19	2354	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	778					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1925G>A	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859711	0.91433	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	H	0.97186	3.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97578	1.0109	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	533;642;778;778	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	E	778;778;778;642;642;533	ENSP00000440823:G778E;ENSP00000337572:G778E;ENSP00000261491:G778E;ENSP00000368576:G642E;ENSP00000445114:G642E;ENSP00000441308:G533E	ENSP00000261491:G778E	G	+	2	0	DGKH	41671749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.727000	0.93392	0.591000	0.81541	GGA		0.284	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		7	15	0	0	0	1	0	7	15				
NPAS2	4862	broad.mit.edu	37	2	101587504	101587504	+	Missense_Mutation	SNP	C	C	T	rs548020277		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101587504C>T	ENST00000335681.5	+	12	1393	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.P435S|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	370					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGACCCGCCATCCGAGGC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15772	0.0		0.0	False		,,,				2504	0.0					ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1108-1110)Cca>Tca		neuronal PAS domain protein 2							88.0	85.0	86.0					2																	101587504		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101587504C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1108C>T	2.37:g.101587504C>T	ENSP00000338283:p.Pro370Ser					NPAS2_ENST00000542504.1_Missense_Mutation_p.P435S	p.P370S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			12	1393	+			370					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1108C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.517|4.517	0.095962|0.095962	0.08681|0.08681	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000448812|ENST00000335681;ENST00000542504	.|T;T	.|0.04706	.|3.59;3.57	5.75|5.75	2.89|2.89	0.33648|0.33648	.|.	.|0.760463	.|0.12826	.|N	.|0.436001	T|T	0.02380|0.02380	0.0073|0.0073	N|N	0.16368|0.16368	0.405|0.405	0.09310|0.09310	N|N	1|1	.|B;B	.|0.11235	.|0.004;0.002	.|B;B	.|0.14578	.|0.011;0.006	T|T	0.48234|0.48234	-0.9053|-0.9053	5|10	.|0.06099	.|T	.|0.92	.|.	2.5819|2.5819	0.04820|0.04820	0.1301:0.5019:0.1413:0.2267|0.1301:0.5019:0.1413:0.2267	.|.	.|435;370	.|F5H027;Q99743	.|.;NPAS2_HUMAN	V|S	256|370;435	.|ENSP00000338283:P370S;ENSP00000438428:P435S	.|ENSP00000338283:P370S	A|P	+|+	2|1	0|0	NPAS2|NPAS2	100953936|100953936	0.163000|0.163000	0.22920|0.22920	0.006000|0.006000	0.13384|0.13384	0.116000|0.116000	0.19942|0.19942	1.203000|1.203000	0.32284|0.32284	1.443000|1.443000	0.47586|0.47586	-0.137000|-0.137000	0.14449|0.14449	GCC|CCA		0.557	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			14	33	0	0	0	1	0	14	33				
TMEM89	440955	broad.mit.edu	37	3	48659143	48659143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48659143G>A	ENST00000330862.3	-	1	145	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	16						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGGCAGACGTCACCAGCAG	0.672																																						ENST00000330862.3																			0				breast(1)|lung(1)|stomach(1)	3						c.(46-48)aCg>aTg		transmembrane protein 89																																				SO:0001583	missense	440955					integral to membrane		g.chr3:48659143G>A	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.47C>T	3.37:g.48659143G>A	ENSP00000329557:p.Thr16Met						p.T16M	NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	145	-			16						Missense_Mutation	SNP	ENST00000330862.3	37	c.47C>T	CCDS33751.1	.	.	.	.	.	.	.	.	.	.	g	0.053	-1.243576	0.01481	.	.	ENSG00000183396	ENST00000330862	T	0.41065	1.01	4.82	1.02	0.19986	.	0.976578	0.08387	N	0.953588	T	0.10035	0.0246	N	0.00483	-1.445	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.32613	-0.9900	10	0.02654	T	1	-8.769	3.2424	0.06786	0.6392:0.0:0.1899:0.1709	.	16	A2RUT3	TMM89_HUMAN	M	16	ENSP00000329557:T16M	ENSP00000329557:T16M	T	-	2	0	TMEM89	48634147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.704000	0.05058	0.019000	0.15079	-1.532000	0.00920	ACG		0.672	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		11	25	0	0	0	1	0	11	25				
TEAD1	7003	broad.mit.edu	37	11	12923603	12923603	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923603C>A	ENST00000526600.1	+	5	751	c.528C>A	c.(526-528)ggC>ggA	p.G176G	TEAD1_ENST00000334310.6_Intron|SCARNA16_ENST00000516520.1_RNA|TEAD1_ENST00000361985.2_Silent_p.G272G|TEAD1_ENST00000361905.4_Silent_p.G257G|TEAD1_ENST00000527636.1_Silent_p.G272G|TEAD1_ENST00000527575.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	272	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAAAGGTGGCTTAAAGGAAC	0.423																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(769-771)ggC>ggA		TEA domain family member 1 (SV40 transcriptional enhancer factor)							199.0	193.0	195.0					11																	12923603		2200	4294	6494	SO:0001819	synonymous_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12923603C>A	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.528C>A	11.37:g.12923603C>A						TEAD1_ENST00000526600.1_Silent_p.G176G|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Silent_p.G272G|TEAD1_ENST00000361985.2_Silent_p.G272G	p.G257G	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	10	1436	+			272			Transcriptional activation (Potential).		A4FUP2|E7EV65	Silent	SNP	ENST00000526600.1	37	c.771C>A																																																																																					0.423	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		20	214	1	0	0.000132079	1	0.000145887	20	214				
TTN	7273	broad.mit.edu	37	2	179592328	179592328	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179592328C>T	ENST00000591111.1	-	66	19250	c.19026G>A	c.(19024-19026)acG>acA	p.T6342T	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.T5415T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.T6659T|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13118	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCAACATCGTAGTACAAG	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19975-19977)acG>acA		titin							178.0	178.0	178.0					2																	179592328		2061	4217	6278	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592328C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19026G>A	2.37:g.179592328C>T						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T5415T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T6342T	p.T6659T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20201	-			6342			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.19977G>A																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		76	109	0	0	0	1	0	76	109				
ZNF750	79755	broad.mit.edu	37	17	80788324	80788324	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788324G>A	ENST00000269394.3	-	3	2699	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	ZNF750_ENST00000572562.1_Silent_p.C223C|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	622					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTCCACCGCGCATGCGTCTG	0.706																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1864-1866)tgC>tgT		zinc finger protein 750							27.0	30.0	29.0					17																	80788324		2201	4299	6500	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80788324G>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1866C>T	17.37:g.80788324G>A						TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.C223C	p.C622C	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2699	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	622					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1866C>T	CCDS11819.1																																																																																				0.706	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		12	24	0	0	0	1	0	12	24				
DDX10	1662	broad.mit.edu	37	11	108559743	108559743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108559743G>A	ENST00000322536.3	+	7	1058	c.929G>A	c.(928-930)aGc>aAc	p.S310N	DDX10_ENST00000526794.1_Missense_Mutation_p.S310N	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	310	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTTGAGAAGCCATCTGAAG	0.388			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(928-930)aGc>aAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							238.0	238.0	238.0					11																	108559743		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108559743G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.929G>A	11.37:g.108559743G>A	ENSP00000314348:p.Ser310Asn					DDX10_ENST00000322536.3_Missense_Mutation_p.S310N	p.S310N			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	7	961	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	310			Helicase C-terminal.		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.929G>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	4.402	0.074336	0.08485	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.04706	3.57;3.57	5.61	5.61	0.85477	Helicase, C-terminal (1);	0.118146	0.85682	D	0.000000	T	0.03959	0.0111	L	0.33624	1.015	0.43242	D	0.995151	B;B	0.14805	0.011;0.011	B;B	0.14023	0.006;0.01	T	0.34950	-0.9808	10	0.07325	T	0.83	-12.8891	10.0752	0.42355	0.0722:0.1381:0.7897:0.0	.	310;310	Q13206;E9PIF2	DDX10_HUMAN;.	N	310;216;310	ENSP00000314348:S310N;ENSP00000432032:S310N	ENSP00000314348:S310N	S	+	2	0	DDX10	108064953	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.142000	0.58044	2.637000	0.89404	0.655000	0.94253	AGC		0.388	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		83	179	0	0	0	1	0	83	179				
TRPV4	59341	broad.mit.edu	37	12	110232147	110232147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110232147G>A	ENST00000418703.2	-	7	1572	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	TRPV4_ENST00000536838.1_Missense_Mutation_p.P459L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P433L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P433L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P386L|TRPV4_ENST00000541794.1_Missense_Mutation_p.P446L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P446L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P493L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	493					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCCTCCAGCGGCTGGTAGTA	0.642																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1477-1479)cCg>cTg		transient receptor potential cation channel, subfamily V, member 4							67.0	66.0	66.0					12																	110232147		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110232147G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1478C>T	12.37:g.110232147G>A	ENSP00000406191:p.Pro493Leu					TRPV4_ENST00000541794.1_Missense_Mutation_p.P446L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P433L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P459L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P446L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P433L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P493L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P386L	p.P493L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			7	1572	-			493					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1478C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435464	0.83885	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	4.5	4.5	0.54988	.	0.105206	0.64402	D	0.000002	D	0.95411	0.8510	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.97110	1.0;0.999;1.0;0.886;0.992	D	0.96024	0.9011	10	0.72032	D	0.01	0.1363	16.3763	0.83401	0.0:0.0:1.0:0.0	.	433;493;386;446;459	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	L	493;493;446;433;386;433;446;459	ENSP00000406191:P493L;ENSP00000261740:P493L;ENSP00000376480:P446L;ENSP00000319003:P433L;ENSP00000443611:P386L;ENSP00000442738:P433L;ENSP00000442167:P446L;ENSP00000444336:P459L	ENSP00000261740:P493L	P	-	2	0	TRPV4	108716530	1.000000	0.71417	0.983000	0.44433	0.771000	0.43674	9.491000	0.97954	2.327000	0.79052	0.561000	0.74099	CCG		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		6	37	0	0	0	1	0	6	37				
RBM41	55285	broad.mit.edu	37	X	106310867	106310867	+	Nonsense_Mutation	SNP	T	T	A	rs35091797		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106310867T>A	ENST00000372479.3	-	7	1162	c.1132A>T	c.(1132-1134)Aaa>Taa	p.K378*	RBM41_ENST00000372487.1_Nonsense_Mutation_p.K378*	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	378	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACCAATATTTTCCCATGTAGT	0.343																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(1132-1134)Aaa>Taa		RNA binding motif protein 41							182.0	169.0	173.0					X																	106310867		2203	4300	6503	SO:0001587	stop_gained	55285						nucleotide binding|RNA binding	g.chrX:106310867T>A	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1132A>T	X.37:g.106310867T>A	ENSP00000361557:p.Lys378*					RBM41_ENST00000372479.3_Nonsense_Mutation_p.K378*	p.K378*	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN			7	1158	-			378			RRM.		Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Nonsense_Mutation	SNP	ENST00000372479.3	37	c.1132A>T	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	T	36	5.869281	0.97049	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	.	.	.	5.42	5.42	0.78866	.	0.057023	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.755	0.46232	0.0:0.0:0.0:1.0	.	.	.	.	X	378	.	ENSP00000361557:K378X	K	-	1	0	RBM41	106197523	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.005000	0.70716	1.809000	0.52856	0.417000	0.27973	AAA		0.343	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		5	161	0	0	0	1	0	5	161				
MTHFD1	4522	broad.mit.edu	37	14	64879239	64879239	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64879239C>T	ENST00000545908.1	+	4	633	c.404C>T	c.(403-405)tCt>tTt	p.S135F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.S79F			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	79	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ACCACAGAATCTGAGGTGAGC	0.423																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(235-237)tCt>tTt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						145.0	133.0	137.0					14																	64879239		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64879239C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.404C>T	14.37:g.64879239C>T	ENSP00000438588:p.Ser135Phe					MTHFD1_ENST00000545908.1_Missense_Mutation_p.S135F|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S135F|MTHFD1_ENST00000555252.1_Missense_Mutation_p.S59F	p.S79F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	4	623	+			79			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.236C>T		.	.	.	.	.	.	.	.	.	.	C	11.84	1.759522	0.31137	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.23950	2.68;2.69;2.69;1.88	4.91	3.06	0.35304	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.590482	0.18426	N	0.141597	T	0.25382	0.0617	L	0.42632	1.34	0.35005	D	0.75631	B;B;P	0.35844	0.002;0.0;0.524	B;B;B	0.41946	0.006;0.007;0.371	T	0.26018	-1.0115	10	0.33141	T	0.24	-3.0381	9.7549	0.40498	0.1403:0.786:0.0:0.0737	.	135;79;79	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	F	135;79;135;59	ENSP00000438588:S135F;ENSP00000450560:S79F;ENSP00000216605:S135F;ENSP00000451309:S59F	ENSP00000216605:S79F	S	+	2	0	MTHFD1	63948992	0.997000	0.39634	0.928000	0.36995	0.303000	0.27691	2.647000	0.46639	0.579000	0.29504	-0.314000	0.08810	TCT		0.423	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			19	36	0	0	0	1	0	19	36				
CNPY3	10695	broad.mit.edu	37	6	42902286	42902286	+	Silent	SNP	G	G	A	rs75557671	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42902286G>A	ENST00000372836.4	+	2	596	c.225G>A	c.(223-225)acG>acA	p.T75T	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	75	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATTGGCACGGGCTATGGCA	0.562													G|||	3	0.000599042	0.0	0.0014	5008	,	,		21060	0.002		0.0	False		,,,				2504	0.0					ENST00000372836.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(223-225)acG>acA		canopy FGF signaling regulator 3		G		0,4406		0,0,2203	119.0	98.0	105.0		225	-9.4	0.1	6	dbSNP_132	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNPY3	NM_006586.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		75/279	42902286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10695				innate immune response	endoplasmic reticulum		g.chr6:42902286G>A	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.225G>A	6.37:g.42902286G>A						CNPY3_ENST00000394142.3_Intron	p.T75T	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	596	+	Colorectal(47;0.196)		75			Saposin B-type.		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Silent	SNP	ENST00000372836.4	37	c.225G>A	CCDS4875.1																																																																																				0.562	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		16	27	0	0	0	1	0	16	27				
C11orf70	85016	broad.mit.edu	37	11	101953841	101953841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101953841G>A	ENST00000434758.2	+	7	743	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	239										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AAAGAATCATGAACAGACATT	0.308																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(715-717)Gaa>Aaa		chromosome 11 open reading frame 70							177.0	167.0	170.0					11																	101953841		2203	4299	6502	SO:0001583	missense	85016							g.chr11:101953841G>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.715G>A	11.37:g.101953841G>A	ENSP00000414390:p.Glu239Lys						p.E239K	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	7	743	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	239					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.715G>A	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345563	0.24426	.	.	ENSG00000137691	ENST00000434758;ENST00000423732	.	.	.	5.85	5.85	0.93711	.	0.193754	0.53938	D	0.000051	T	0.37945	0.1022	N	0.17723	0.515	0.80722	D	1	P	0.43938	0.822	B	0.41510	0.359	T	0.15896	-1.0421	9	0.10111	T	0.7	-21.942	15.2722	0.73712	0.0:0.1398:0.8601:0.0	.	239	Q9BRQ4	CK070_HUMAN	K	239;201	.	ENSP00000392150:E201K	E	+	1	0	C11orf70	101459051	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	2.430000	0.44766	2.773000	0.95371	0.585000	0.79938	GAA		0.308	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		37	85	0	0	0	1	0	37	85				
NDUFV3	4731	broad.mit.edu	37	21	44323306	44323306	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44323306A>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.K62E|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AGTGGAACCAAAGGAGAGGGG	0.418																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(184-186)Aag>Gag		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						50.0	51.0	51.0					21																	44323306		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44323306A>G		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5668A>G	21.37:g.44323306A>G						NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	p.K62E	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	253	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.184A>G	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078507	0.36662	.	.	ENSG00000160194	ENST00000354250	T	0.47528	0.84	5.84	2.3	0.28687	.	0.433426	0.26788	N	0.022493	T	0.33876	0.0878	L	0.43923	1.385	0.80722	D	1	P	0.45474	0.859	B	0.43155	0.41	T	0.15037	-1.0451	10	0.13470	T	0.59	-15.0131	4.7215	0.12920	0.5364:0.2059:0.2577:0.0	.	62	P56181-2	.	E	62	ENSP00000346196:K62E	ENSP00000346196:K62E	K	+	1	0	NDUFV3	43196375	1.000000	0.71417	0.941000	0.38009	0.933000	0.57130	1.433000	0.34947	0.167000	0.19631	0.533000	0.62120	AAG		0.418	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			6	41	0	0	0	1	0	6	41				
SETD2	29072	broad.mit.edu	37	3	47161785	47161785	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47161785G>T	ENST00000409792.3	-	3	4383	c.4341C>A	c.(4339-4341)ccC>ccA	p.P1447P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1447					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGACACAGGAGGGCCCAACCA	0.478			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4339-4341)ccC>ccA		SET domain containing 2							164.0	155.0	158.0					3																	47161785		2203	4300	6503	SO:0001819	synonymous_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161785G>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4341C>A	3.37:g.47161785G>T							p.P1447P	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4383	-		Acute lymphoblastic leukemia(5;0.0169)	1447					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	c.4341C>A	CCDS2749.2																																																																																				0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		7	92	1	0	2.0095e-06	1	2.31757e-06	7	92				
TRAPPC8	22878	broad.mit.edu	37	18	29419357	29419357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29419357G>A	ENST00000283351.4	-	27	4236	c.3901C>T	c.(3901-3903)Cca>Tca	p.P1301S	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1247S	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1301					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTACTGATGGCCTTGAGGAA	0.343																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3901-3903)Cca>Tca		trafficking protein particle complex 8							126.0	134.0	131.0					18																	29419357		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29419357G>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3901C>T	18.37:g.29419357G>A	ENSP00000283351:p.Pro1301Ser					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1247S	p.P1301S	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			27	4236	-			1301					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3901C>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.489849	0.44249	.	.	ENSG00000153339	ENST00000283351	T	0.10382	2.88	5.29	5.29	0.74685	.	0.105217	0.64402	D	0.000003	T	0.16342	0.0393	M	0.65975	2.015	0.80722	D	1	B	0.31519	0.327	B	0.35688	0.208	T	0.07558	-1.0766	10	0.08837	T	0.75	.	19.2953	0.94119	0.0:0.0:1.0:0.0	.	1301	Q9Y2L5	TPPC8_HUMAN	S	1301	ENSP00000283351:P1301S	ENSP00000283351:P1301S	P	-	1	0	TRAPPC8	27673355	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.314000	0.89980	2.628000	0.89032	0.655000	0.94253	CCA		0.343	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		36	42	0	0	0	1	0	36	42				
CRIPT	9419	broad.mit.edu	37	2	46850956	46850956	+	Missense_Mutation	SNP	C	C	T	rs375537241		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46850956C>T	ENST00000238892.3	+	4	323	c.191C>T	c.(190-192)tCt>tTt	p.S64F	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	64					cytoplasmic microtubule organization (GO:0031122)|establishment of protein localization (GO:0045184)|protein localization to microtubule (GO:0035372)|regulation of postsynaptic density protein 95 clustering (GO:1902897)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	microtubule binding (GO:0008017)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)			kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAAAAGTTCTGTGCACCAA	0.328																																						ENST00000238892.3																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(190-192)tCt>tTt		cysteine-rich PDZ-binding protein		C	PHE/SER	0,4406		0,0,2203	69.0	72.0	71.0		191	5.8	1.0	2		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRIPT	NM_014171.4	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	64/102	46850956	1,13005	2203	4300	6503	SO:0001583	missense	9419					cell junction|cytoplasm|dendritic spine		g.chr2:46850956C>T	AA165108	CCDS1829.1	2p21	2008-02-05			ENSG00000119878	ENSG00000119878			14312	protein-coding gene	gene with protein product		604594				16091592, 11744724, 10570482, 9581762	Standard	NM_014171		Approved	HSPC139	uc002rve.3	Q9P021	OTTHUMG00000128815	ENST00000238892.3:c.191C>T	2.37:g.46850956C>T	ENSP00000238892:p.Ser64Phe					CRIPT_ENST00000486447.1_3'UTR	p.S64F	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		4	323	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	64						Missense_Mutation	SNP	ENST00000238892.3	37	c.191C>T	CCDS1829.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860326	0.91433	0.0	1.16E-4	ENSG00000119878	ENST00000238892	T	0.75938	-0.98	5.76	5.76	0.90799	.	0.048338	0.85682	D	0.000000	T	0.80088	0.4559	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.80111	-0.1519	10	0.51188	T	0.08	-6.7331	19.0946	0.93244	0.0:1.0:0.0:0.0	.	64	Q9P021	CRIPT_HUMAN	F	64	ENSP00000238892:S64F	ENSP00000238892:S64F	S	+	2	0	CRIPT	46704460	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.761000	0.74945	2.882000	0.98803	0.655000	0.94253	TCT		0.328	CRIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250748.1	NM_014171		18	35	0	0	0	1	0	18	35				
COL18A1	80781	broad.mit.edu	37	21	46911189	46911189	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46911189C>T	ENST00000359759.4	+	21	3384	c.3363C>T	c.(3361-3363)ccC>ccT	p.P1121P	COL18A1_ENST00000400337.2_Silent_p.P706P|COL18A1_ENST00000355480.5_Silent_p.P886P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1121	Triple-helical region 4 (COL4).		P -> R (in dbSNP:rs79980197). {ECO:0000269|PubMed:14695535, ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:8188291}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGCCCCCCCGGACCCCCGG	0.682																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3361-3363)ccC>ccT		collagen, type XVIII, alpha 1							18.0	25.0	23.0					21																	46911189		1918	4090	6008	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46911189C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3363C>T	21.37:g.46911189C>T						COL18A1_ENST00000355480.5_Silent_p.P886P|COL18A1_ENST00000400337.2_Silent_p.P706P	p.P1121P			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	21	3384	+			1121		P -> R.	Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.3363C>T																																																																																					0.682	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			7	33	0	0	0	1	0	7	33				
HIRA	7290	broad.mit.edu	37	22	19381928	19381928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19381928G>A	ENST00000263208.5	-	8	1015	c.759C>T	c.(757-759)atC>atT	p.I253I	HIRA_ENST00000541063.1_Silent_p.I209I|HIRA_ENST00000340170.4_Silent_p.I253I|HIRA_ENST00000546308.1_Silent_p.I209I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	253					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCCGTTCGATGATCTGGG	0.572																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(757-759)atC>atT		histone cell cycle regulator							148.0	101.0	117.0					22																	19381928		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19381928G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.759C>T	22.37:g.19381928G>A						HIRA_ENST00000546308.1_Silent_p.I209I|HIRA_ENST00000541063.1_Silent_p.I209I|HIRA_ENST00000340170.4_Silent_p.I253I	p.I253I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			8	1015	-	Colorectal(54;0.0993)		253					Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.759C>T	CCDS13759.1																																																																																				0.572	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		5	50	0	0	0	1	0	5	50				
PSMB8	5696	broad.mit.edu	37	6	32805576	32805576	+	IGR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32805576G>T	ENST00000374882.3	-	0	1124				TAP2_ENST00000374899.4_Silent_p.S145S|TAP2_ENST00000374897.2_Silent_p.S145S|TAP2_ENST00000452392.2_Silent_p.S145S	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	GGTCCGGCCTGGAGAGCTTCA	0.572																																					NSCLC(48;53 1172 10859 13624 22883)	ENST00000374897.2																			0											c.(433-435)tcC>tcA		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							57.0	61.0	59.0					6																	32805576		1511	2709	4220	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805576G>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805576G>T						TAP2_ENST00000374899.4_Silent_p.S145S|TAP2_ENST00000452392.2_Silent_p.S145S	p.S145S	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			2	566	-			145					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.435C>A	CCDS4757.1																																																																																				0.572	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		21	22	1	0	4.63292e-17	1	5.99748e-17	21	22				
CACNA1B	774	broad.mit.edu	37	9	140865852	140865852	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140865852G>A	ENST00000371372.1	+	11	1496	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A452T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A451T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A452T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A451T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	451					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCGCCCGCGCCAGCCTCAA	0.602																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1351-1353)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						39.0	44.0	43.0					9																	140865852		1970	4135	6105	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140865852G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1351G>A	9.37:g.140865852G>A	ENSP00000360423:p.Ala451Thr					CACNA1B_ENST00000277551.2_Missense_Mutation_p.A451T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A452T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A451T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A452T	p.A451T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	11	1496	+	all_cancers(76;0.166)		451					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1351G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246821	0.22796	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96587	-4.06;-4.06;-4.05;-4.04;-4.05	5.26	3.43	0.39272	.	0.807096	0.11264	N	0.582217	D	0.93946	0.8062	L	0.49640	1.575	0.80722	D	1	B	0.19817	0.039	B	0.12156	0.007	D	0.88640	0.3175	10	0.41790	T	0.15	.	11.3809	0.49757	0.1464:0.0:0.8536:0.0	.	451	B1AQK6	.	T	451;451;451;452;452	ENSP00000360423:A451T;ENSP00000277551:A451T;ENSP00000360414:A451T;ENSP00000360408:A452T;ENSP00000360406:A452T	ENSP00000277551:A451T	A	+	1	0	CACNA1B	139985673	1.000000	0.71417	0.606000	0.28943	0.001000	0.01503	3.854000	0.55949	0.612000	0.30071	-0.379000	0.06801	GCC		0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		4	6	0	0	0	1	0	4	6				
SPOP	8405	broad.mit.edu	37	17	47696646	47696646	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47696646T>A	ENST00000393328.2	-	5	667	c.302A>T	c.(301-303)aAa>aTa	p.K101I	SPOP_ENST00000393331.3_Missense_Mutation_p.K101I|SPOP_ENST00000504102.1_Missense_Mutation_p.K101I|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.K101I|SPOP_ENST00000347630.2_Missense_Mutation_p.K101I	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	101	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTGAATTTTGCCCGAAC	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(301-303)aAa>aTa		speckle-type POZ protein							144.0	134.0	137.0					17																	47696646		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696646T>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.302A>T	17.37:g.47696646T>A	ENSP00000377001:p.Lys101Ile	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.K101I|SPOP_ENST00000504102.1_Missense_Mutation_p.K101I|SPOP_ENST00000503676.1_Missense_Mutation_p.K101I|SPOP_ENST00000393328.2_Missense_Mutation_p.K101I	p.K101I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	772	-			101			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.302A>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860207	0.91433	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.65178	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;-0.14	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.81179	2.53	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.81699	-0.0814	10	0.54805	T	0.06	-17.7327	15.4649	0.75390	0.0:0.0:0.0:1.0	.	101	O43791	SPOP_HUMAN	I	101;101;101;101;101;54;101;101;101;101;101	ENSP00000377001:K101I;ENSP00000377004:K101I;ENSP00000240327:K101I;ENSP00000425905:K101I;ENSP00000420908:K101I;ENSP00000426986:K101I;ENSP00000420960:K101I;ENSP00000426262:K101I;ENSP00000424119:K101I;ENSP00000426537:K101I	ENSP00000240327:K101I	K	-	2	0	SPOP	45051645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	AAA		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		11	92	0	0	0	1	0	11	92				
DYNC1LI1	51143	broad.mit.edu	37	3	32586466	32586466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32586466G>A	ENST00000273130.4	-	4	573	c.470C>T	c.(469-471)aCt>aTt	p.T157I	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	157					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ATCCAAAGCAGTCCAAGGCTT	0.398																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(469-471)aCt>aTt		dynein, cytoplasmic 1, light intermediate chain 1							119.0	116.0	117.0					3																	32586466		2203	4300	6503	SO:0001583	missense	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32586466G>A	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.470C>T	3.37:g.32586466G>A	ENSP00000273130:p.Thr157Ile					DYNC1LI1_ENST00000432458.2_Intron	p.T157I	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			4	573	-			157					A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	c.470C>T	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676526	0.47886	.	.	ENSG00000144635	ENST00000273130;ENST00000413350	T;T	0.32272	1.46;1.46	5.52	4.64	0.57946	.	0.236565	0.48767	D	0.000169	T	0.27832	0.0685	L	0.48877	1.53	0.80722	D	1	B	0.20459	0.045	B	0.24155	0.051	T	0.08086	-1.0739	10	0.56958	D	0.05	-19.3166	9.5014	0.39019	0.0711:0.0:0.7852:0.1437	.	157	Q9Y6G9	DC1L1_HUMAN	I	157;106	ENSP00000273130:T157I;ENSP00000390507:T106I	ENSP00000273130:T157I	T	-	2	0	DYNC1LI1	32561470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.410000	0.52664	1.448000	0.47680	0.655000	0.94253	ACT		0.398	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		44	48	0	0	0	1	0	44	48				
SLC1A4	6509	broad.mit.edu	37	2	65228624	65228624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65228624G>A	ENST00000234256.3	+	2	813	c.570G>A	c.(568-570)acG>acA	p.T190T	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	190					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T190T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTTTCCGTACGGTAAGGCTTG	0.373																																						ENST00000234256.3																			1	Substitution - coding silent(1)	p.T190T(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e2+1		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						149.0	140.0	143.0					2																	65228624		2203	4300	6503	SO:0001630	splice_region_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65228624G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.570+1G>A	2.37:g.65228624G>A						SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	p.T190_splice	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			2	813	+			190					B7Z3C0|D6W5F0	Splice_Site	SNP	ENST00000234256.3	37	c.570_splice	CCDS1879.1																																																																																				0.373	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038	Silent	40	73	0	0	0	1	0	40	73				
CCSER2	54462	broad.mit.edu	37	10	86131545	86131545	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:86131545G>T	ENST00000224756.8	+	2	922	c.737G>T	c.(736-738)aGa>aTa	p.R246I	CCSER2_ENST00000372088.2_Missense_Mutation_p.R246I|CCSER2_ENST00000359979.4_Missense_Mutation_p.R246I	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	246					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TCCTTTAATAGAGCTGTGGAT	0.383																																						ENST00000224756.8																			0											c.(736-738)aGa>aTa		coiled-coil serine-rich protein 2							73.0	74.0	74.0					10																	86131545		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86131545G>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.737G>T	10.37:g.86131545G>T	ENSP00000224756:p.Arg246Ile					CCSER2_ENST00000372088.2_Missense_Mutation_p.R246I|CCSER2_ENST00000359979.4_Missense_Mutation_p.R246I	p.R246I	NM_018999.2	NP_061872.2					2	922	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.737G>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719814	0.68844	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.57752	0.38;1.75;1.7	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.989;0.997	T	0.72204	-0.4361	10	0.87932	D	0	-21.0344	17.9326	0.89002	0.0:0.0:1.0:0.0	.	246;246;246	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	I	246	ENSP00000353068:R246I;ENSP00000224756:R246I;ENSP00000361160:R246I	ENSP00000224756:R246I	R	+	2	0	FAM190B	86121525	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.386000	0.52492	2.836000	0.97738	0.655000	0.94253	AGA		0.383	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		4	89	1	0	1	1	1	4	89				
TTC21B	79809	broad.mit.edu	37	2	166747469	166747469	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166747469C>T	ENST00000243344.7	-	23	3117	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	TTC21B_ENST00000536175.1_5'Flank	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	994					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTTAGGAGATCAATCAAACGA	0.338																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(2980-2982)Gat>Aat		tetratricopeptide repeat domain 21B							53.0	57.0	56.0					2																	166747469		2200	4300	6500	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166747469C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2980G>A	2.37:g.166747469C>T	ENSP00000243344:p.Asp994Asn						p.D994N	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			23	3117	-			994					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2980G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846897	0.91277	.	.	ENSG00000123607	ENST00000243344	T	0.50813	0.73	5.7	4.8	0.61643	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.042986	0.85682	D	0.000000	T	0.69762	0.3147	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.75213	-0.3397	10	0.52906	T	0.07	-19.903	15.9412	0.79756	0.136:0.864:0.0:0.0	.	994	Q7Z4L5	TT21B_HUMAN	N	994	ENSP00000243344:D994N	ENSP00000243344:D994N	D	-	1	0	TTC21B	166455715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	1.355000	0.45865	0.637000	0.83480	GAT		0.338	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		23	34	0	0	0	1	0	23	34				
CDC42EP2	10435	broad.mit.edu	37	11	65088786	65088786	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65088786G>T	ENST00000544348.1	+	2	1023	c.417G>T	c.(415-417)caG>caT	p.Q139H	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.Q139H|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.Q139H			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	139					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						AGACCCCTCAGCCTTCCCCAC	0.672																																						ENST00000544348.1																			0				lung(1)	1						c.(415-417)caG>caT		CDC42 effector protein (Rho GTPase binding) 2							61.0	52.0	55.0					11																	65088786		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088786G>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.417G>T	11.37:g.65088786G>T	ENSP00000442534:p.Gln139His					CDC42EP2_ENST00000279249.2_Missense_Mutation_p.Q139H|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.Q139H	p.Q139H			O14613	BORG1_HUMAN			2	1023	+			139					B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.417G>T	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275911	0.40294	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.30714	1.52;1.52;1.52	5.08	4.15	0.48705	.	0.519698	0.16564	N	0.208903	T	0.23171	0.0560	N	0.25647	0.755	0.21105	N	0.999785	B	0.25955	0.138	B	0.28305	0.088	T	0.12091	-1.0561	10	0.45353	T	0.12	-35.7271	11.7879	0.52053	0.0881:0.0:0.9119:0.0	.	139	O14613	BORG1_HUMAN	H	139	ENSP00000279249:Q139H;ENSP00000431660:Q139H;ENSP00000442534:Q139H	ENSP00000279249:Q139H	Q	+	3	2	CDC42EP2	64845362	0.019000	0.18553	0.989000	0.46669	0.900000	0.52787	1.042000	0.30303	2.640000	0.89533	0.591000	0.81541	CAG		0.672	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		23	36	1	0	1.10513e-12	1	1.39297e-12	23	36				
KRT39	390792	broad.mit.edu	37	17	39116560	39116560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39116560C>T	ENST00000355612.2	-	6	1225	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	397	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGAAGGCTGCGGTATGTGGT	0.478																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(1189-1191)cGc>cAc		keratin 39							122.0	108.0	113.0					17																	39116560		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39116560C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1190G>A	17.37:g.39116560C>T	ENSP00000347823:p.Arg397His					AC004231.2_ENST00000418393.1_RNA	p.R397H	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			6	1225	-		Breast(137;0.00043)|Ovarian(249;0.15)	397			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1190G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135359	0.77662	.	.	ENSG00000196859	ENST00000355612	D	0.94687	-3.49	5.7	2.6	0.31112	Filament (1);Intermediate filament protein, conserved site (1);	0.165190	0.29335	N	0.012458	D	0.94775	0.8313	M	0.87758	2.905	0.30145	N	0.803619	P	0.45569	0.861	P	0.44696	0.458	D	0.92211	0.5776	10	0.66056	D	0.02	.	11.2334	0.48925	0.0:0.7981:0.0:0.2019	.	397	Q6A163	K1C39_HUMAN	H	397	ENSP00000347823:R397H	ENSP00000347823:R397H	R	-	2	0	KRT39	36370086	0.977000	0.34250	1.000000	0.80357	0.984000	0.73092	2.483000	0.45233	0.761000	0.33130	0.655000	0.94253	CGC		0.478	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		34	49	0	0	0	1	0	34	49				
ZSWIM8	23053	broad.mit.edu	37	10	75561190	75561190	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75561190C>T	ENST00000605216.1	+	26	5644	c.5427C>T	c.(5425-5427)aaC>aaT	p.N1809N	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Silent_p.N1627N|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.N1768N|ZSWIM8_ENST00000604729.1_Silent_p.N1806N|ZSWIM8_ENST00000398706.2_Silent_p.N1814N	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1809							zinc ion binding (GO:0008270)										TGCAGTTCAACGACATCCTAC	0.577																																						ENST00000604729.1																			0											c.(5416-5418)aaC>aaT		zinc finger, SWIM-type containing 8							76.0	83.0	80.0					10																	75561190		2153	4258	6411	SO:0001819	synonymous_variant	23053							g.chr10:75561190C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5427C>T	10.37:g.75561190C>T						ZSWIM8_ENST00000604524.1_Silent_p.N1627N|ZSWIM8_ENST00000398706.2_Silent_p.N1814N|ZSWIM8_ENST00000603114.1_Silent_p.N1768N|ZSWIM8_ENST00000605216.1_Silent_p.N1809N	p.N1806N							26	5715	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.5418C>T		.	.	.	.	.	.	.	.	.	.	C	4.683	0.126979	0.08931	.	.	ENSG00000214655	ENST00000412198	.	.	.	5.99	5.08	0.68730	.	.	.	.	.	T	0.62660	0.2446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58803	-0.7572	4	.	.	.	0.2674	11.8002	0.52122	0.0:0.8704:0.0:0.1296	.	.	.	.	M	1084	.	.	T	+	2	0	KIAA0913	75231196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.011000	0.40922	2.840000	0.97914	0.655000	0.94253	ACG		0.577	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		11	21	0	0	0	1	0	11	21				
ENOX2	10495	broad.mit.edu	37	X	129765465	129765465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129765465G>T	ENST00000370927.1	-	11	1613	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	ENOX2_ENST00000370935.1_Missense_Mutation_p.S502Y|ENOX2_ENST00000394363.1_Missense_Mutation_p.S502Y|ENOX2_ENST00000338144.3_Missense_Mutation_p.S531Y			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	531					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCACGTTCAGATTTGATAGG	0.478																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1591-1593)tCt>tAt		ecto-NOX disulfide-thiol exchanger 2							261.0	184.0	210.0					X																	129765465		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129765465G>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1592C>A	X.37:g.129765465G>T	ENSP00000359965:p.Ser531Tyr					ENOX2_ENST00000370935.1_Missense_Mutation_p.S502Y|ENOX2_ENST00000370927.1_Missense_Mutation_p.S531Y|ENOX2_ENST00000394363.1_Missense_Mutation_p.S502Y	p.S531Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			14	2009	-			531					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1592C>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188338	0.78789	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.72894	2.215	0.47094	D	0.999316	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77127	-0.2702	8	.	.	.	-12.21	13.0941	0.59182	0.0:0.0:1.0:0.0	.	531;559	Q16206;A4QPE1	ENOX2_HUMAN;.	Y	502;531;502;559;531	.	.	S	-	2	0	ENOX2	129593146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.492000	0.84095	0.597000	0.82753	TCT		0.478	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		43	91	1	0	5.44703e-19	1	7.11935e-19	43	91				
BCL6B	255877	broad.mit.edu	37	17	6929875	6929875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6929875G>A	ENST00000293805.5	+	6	1081	c.989G>A	c.(988-990)tGt>tAt	p.C330Y		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	330					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CCCTATAAGTGTCAGCTGTGC	0.572																																						ENST00000293805.5																			0				skin(1)	1						c.(988-990)tGt>tAt		B-cell CLL/lymphoma 6, member B							116.0	127.0	123.0					17																	6929875		2116	4228	6344	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6929875G>A	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.989G>A	17.37:g.6929875G>A	ENSP00000293805:p.Cys330Tyr						p.C330Y	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			6	1081	+			330					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.989G>A	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453292	0.84209	.	.	ENSG00000161940	ENST00000293805	T	0.58358	0.34	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.323489	0.34725	N	0.003722	T	0.81158	0.4764	H	0.95043	3.615	0.54753	D	0.999988	D	0.71674	0.998	D	0.70227	0.968	D	0.86042	0.1520	10	0.87932	D	0	.	17.8727	0.88815	0.0:0.0:1.0:0.0	.	330	Q8N143	BCL6B_HUMAN	Y	330	ENSP00000293805:C330Y	ENSP00000293805:C330Y	C	+	2	0	BCL6B	6870599	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.687000	0.84139	2.826000	0.97356	0.563000	0.77884	TGT		0.572	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		49	60	0	0	0	1	0	49	60				
RFWD2	64326	broad.mit.edu	37	1	176105629	176105629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176105629C>T	ENST00000367669.3	-	7	1400	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	296					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTACTTCCACTCTCTTAATA	0.343																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(886-888)Gtg>Atg		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							121.0	115.0	117.0					1																	176105629		2202	4300	6502	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176105629C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.886G>A	1.37:g.176105629C>T	ENSP00000356641:p.Val296Met					RFWD2_ENST00000308769.8_Intron	p.V296M	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			7	1400	-			296					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.886G>A	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534998	0.85812	.	.	ENSG00000143207	ENST00000367665;ENST00000367669	T	0.14022	2.54	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.74647	2.275	0.80722	D	1	D;P;D	0.89917	1.0;0.943;0.99	D;P;D	0.75484	0.986;0.888;0.969	T	0.25187	-1.0139	10	0.87932	D	0	-9.1469	18.7791	0.91924	0.0:1.0:0.0:0.0	.	32;56;296	Q8NHY2-3;B1AMD2;Q8NHY2	.;.;RFWD2_HUMAN	M	32;296	ENSP00000356641:V296M	ENSP00000356637:V32M	V	-	1	0	RFWD2	174372252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.904000	0.69886	2.547000	0.85894	0.650000	0.86243	GTG		0.343	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		7	26	0	0	0	1	0	7	26				
ACAP2	23527	broad.mit.edu	37	3	195053834	195053834	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195053834C>T	ENST00000326793.6	-	8	822	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	198	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCCAAATGGGCATACATAAAT	0.313																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(592-594)Gcc>Acc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							113.0	98.0	103.0					3																	195053834		2203	4299	6502	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195053834C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.592G>A	3.37:g.195053834C>T	ENSP00000324287:p.Ala198Thr						p.A198T	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			8	822	-			198			BAR.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.592G>A	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.243493|5.243493	0.95272|0.95272	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758;ENST00000423531	T|.	0.06294|.	3.32|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.150378|.	0.64402|.	D|.	0.000014|.	T|T	0.82240|0.82240	0.4994|0.4994	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.73380|.	0.98|.	T|T	0.82855|0.82855	-0.0251|-0.0251	10|5	0.87932|.	D|.	0|.	.|.	18.7707|18.7707	0.91890|0.91890	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	198|.	Q15057|.	ACAP2_HUMAN|.	T|Y	198|68;151	ENSP00000324287:A198T|.	ENSP00000324287:A198T|.	A|C	-|-	1|2	0|0	ACAP2|ACAP2	196535123|196535123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.537000|5.537000	0.67186|0.67186	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.313	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		4	42	0	0	0	1	0	4	42				
TRPM7	54822	broad.mit.edu	37	15	50897065	50897065	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50897065T>G	ENST00000313478.7	-	21	3267	c.2986A>C	c.(2986-2988)Atg>Ctg	p.M996L	TRPM7_ENST00000560955.1_Missense_Mutation_p.M996L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	996					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAACTTACCATTTTTCCAATC	0.289																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(2986-2988)Atg>Ctg		transient receptor potential cation channel, subfamily M, member 7							70.0	64.0	66.0					15																	50897065		1815	4076	5891	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50897065T>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2986A>C	15.37:g.50897065T>G	ENSP00000320239:p.Met996Leu					TRPM7_ENST00000560955.1_Missense_Mutation_p.M996L	p.M996L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	21	3267	-			996					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.2986A>C	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560455	0.86335	.	.	ENSG00000092439	ENST00000313478	T	0.66815	-0.23	5.63	4.5	0.54988	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.84219	2.685	0.80722	D	1	B	0.32324	0.364	B	0.38106	0.265	T	0.73017	-0.4115	10	0.87932	D	0	-16.2062	11.556	0.50748	0.0:0.0702:0.0:0.9298	.	996	Q96QT4	TRPM7_HUMAN	L	996	ENSP00000320239:M996L	ENSP00000320239:M996L	M	-	1	0	TRPM7	48684357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.292000	0.72725	0.956000	0.37904	0.477000	0.44152	ATG		0.289	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		5	27	0	0	0	1	0	5	27				
ZNF275	10838	broad.mit.edu	37	X	152612497	152612497	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152612497G>A	ENST00000421401.3	+	4	531	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ZNF275_ENST00000370249.2_Silent_p.Q65Q|ZNF275_ENST00000440091.1_Silent_p.Q148Q|ZNF275_ENST00000370251.3_Silent_p.Q118Q			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTGTCCAGCACCAGAGAG	0.542																																						ENST00000421401.3																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(352-354)caG>caA		zinc finger protein 275							64.0	66.0	66.0					X																	152612497		2113	4208	6321	SO:0001819	synonymous_variant	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612497G>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.354G>A	X.37:g.152612497G>A						ZNF275_ENST00000370251.2_Silent_p.Q118Q|ZNF275_ENST00000370249.2_Silent_p.Q65Q|ZNF275_ENST00000440091.1_Silent_p.Q148Q	p.Q118Q	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN			4	531	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		118					A6NE92	Silent	SNP	ENST00000421401.3	37	c.354G>A																																																																																					0.542	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		21	28	0	0	0	1	0	21	28				
MAP3K7CL	56911	broad.mit.edu	37	21	30521514	30521514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30521514T>C	ENST00000399947.2	+	7	652	c.375T>C	c.(373-375)gaT>gaC	p.D125D	MAP3K7CL_ENST00000341618.4_Silent_p.D125D|MAP3K7CL_ENST00000399935.2_Silent_p.D25D|MAP3K7CL_ENST00000399934.1_Silent_p.D25D|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399925.1_Silent_p.D25D|MAP3K7CL_ENST00000399926.1_Silent_p.D25D|MAP3K7CL_ENST00000545939.1_Silent_p.D19D|MAP3K7CL_ENST00000399928.1_Silent_p.D25D|MAP3K7CL_ENST00000339024.4_Silent_p.D25D	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	125						cytosol (GO:0005829)|nucleus (GO:0005634)											TTTTAGATGATACACCCCCTG	0.413																																						ENST00000399935.2																			0											c.(73-75)gaT>gaC		MAP3K7 C-terminal like							167.0	157.0	160.0					21																	30521514		2203	4300	6503	SO:0001819	synonymous_variant	56911							g.chr21:30521514T>C	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.375T>C	21.37:g.30521514T>C						MAP3K7CL_ENST00000341618.4_Silent_p.D125D|MAP3K7CL_ENST00000339024.4_Silent_p.D25D|MAP3K7CL_ENST00000399947.2_Silent_p.D125D|MAP3K7CL_ENST00000399928.1_Silent_p.D25D|MAP3K7CL_ENST00000399934.1_Silent_p.D25D|MAP3K7CL_ENST00000399926.1_Silent_p.D25D|MAP3K7CL_ENST00000399925.1_Silent_p.D25D|MAP3K7CL_ENST00000545939.1_Silent_p.D19D|MAP3K7CL_ENST00000286791.5_3'UTR	p.D25D							8	742	+								D3DSE0|Q8TCL9	Silent	SNP	ENST00000399947.2	37	c.75T>C	CCDS13584.1																																																																																				0.413	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		34	77	0	0	0	1	0	34	77				
CCR6	1235	broad.mit.edu	37	6	167549772	167549772	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549772T>G	ENST00000341935.5	+	3	606	c.54T>G	c.(52-54)taT>taG	p.Y18*	CCR6_ENST00000349984.4_Nonsense_Mutation_p.Y18*|CCR6_ENST00000400926.2_Nonsense_Mutation_p.Y18*|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	18					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTGAAGATTATTTTGTGTCAG	0.413																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(52-54)taT>taG		chemokine (C-C motif) receptor 6							150.0	148.0	149.0					6																	167549772		2203	4300	6503	SO:0001587	stop_gained	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167549772T>G	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.54T>G	6.37:g.167549772T>G	ENSP00000343952:p.Tyr18*					CCR6_ENST00000400926.2_Nonsense_Mutation_p.Y18*|CCR6_ENST00000349984.4_Nonsense_Mutation_p.Y18*	p.Y18*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	606	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	18					E1P5C6|P78553|Q92846	Nonsense_Mutation	SNP	ENST00000341935.5	37	c.54T>G	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	T	33	5.227199	0.95173	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	.	.	.	4.72	-9.43	0.00607	.	0.102609	0.41294	U	0.000902	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2453	0.54566	0.0:0.578:0.1059:0.3161	.	.	.	.	X	18	.	ENSP00000343952:Y18X	Y	+	3	2	CCR6	167469762	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.232000	0.02936	-2.340000	0.00625	-0.379000	0.06801	TAT		0.413	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			56	87	0	0	0	1	0	56	87				
PTPRD	5789	broad.mit.edu	37	9	8331643	8331643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8331643C>T	ENST00000381196.4	-	41	6016	c.5473G>A	c.(5473-5475)Ggc>Agc	p.G1825S	PTPRD_ENST00000397611.3_Missense_Mutation_p.G1415S|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1415S|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1812S|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1803S|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1419S|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1418S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1825S|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1825S|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1418S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1825	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1825R(2)|p.G1419R(1)|p.G1296R(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGACTTGGCCGATGAAGTCA	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			4	Substitution - Missense(4)	p.G1825R(2)|p.G1419R(1)|p.G1296R(1)	endometrium(4)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5473-5475)Ggc>Agc		protein tyrosine phosphatase, receptor type, D							177.0	164.0	169.0					9																	8331643		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331643C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5473G>A	9.37:g.8331643C>T	ENSP00000370593:p.Gly1825Ser	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.G1825S|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1419S|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1415S|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1825S|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1812S|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1415S|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1803S|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1418S	p.G1825S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	6016	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1825			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5473G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	36	5.719022	0.96839	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	L	0.46614	1.455	0.80722	D	1	D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.881;1.0;0.999;1.0;1.0;0.999;1.0	D;D;B;D;P;D;D;D;D	0.79108	0.992;0.992;0.279;0.992;0.902;0.986;0.981;0.929;0.984	D	0.86522	0.1816	9	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	1418;1409;1418;1419;1415;1415;1812;1825;1825	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	1825;1825;1812;1803;1419;1418;1415;1415;1296;1825;1418;1418	ENSP00000370593:G1825S;ENSP00000348812:G1825S;ENSP00000353187:G1812S;ENSP00000351293:G1803S;ENSP00000347373:G1419S;ENSP00000380741:G1418S;ENSP00000380735:G1415S;ENSP00000440515:G1415S;ENSP00000438164:G1825S;ENSP00000417093:G1418S;ENSP00000380731:G1418S	.	G	-	1	0	PTPRD	8321643	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.432000	0.80349	2.857000	0.98124	0.650000	0.86243	GGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	126	0	0	0	1	0	6	126				
OSMR	9180	broad.mit.edu	37	5	38925354	38925354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38925354C>T	ENST00000274276.3	+	15	2495	c.2093C>T	c.(2092-2094)gCa>gTa	p.A698V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	698	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAAGAAAAGGCATTGATTGTG	0.368																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2092-2094)gCa>gTa		oncostatin M receptor							128.0	118.0	121.0					5																	38925354		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38925354C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2093C>T	5.37:g.38925354C>T	ENSP00000274276:p.Ala698Val						p.A698V	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			15	2495	+	all_lung(31;0.000365)		698			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2093C>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168744	0.21621	.	.	ENSG00000145623	ENST00000274276	T	0.53423	0.62	5.76	2.97	0.34412	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.573960	0.19879	N	0.104012	T	0.24736	0.0600	N	0.08118	0	0.21527	N	0.999659	B	0.22480	0.07	B	0.15870	0.014	T	0.14924	-1.0455	10	0.51188	T	0.08	.	7.1919	0.25831	0.0:0.7073:0.1395:0.1533	.	698	Q99650	OSMR_HUMAN	V	698	ENSP00000274276:A698V	ENSP00000274276:A698V	A	+	2	0	OSMR	38961111	0.018000	0.18449	0.075000	0.20258	0.020000	0.10135	-0.054000	0.11826	0.337000	0.23665	0.655000	0.94253	GCA		0.368	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		37	59	0	0	0	1	0	37	59				
SRSF5	6430	broad.mit.edu	37	14	70237227	70237227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70237227C>T	ENST00000553521.1	+	7	1863	c.410C>T	c.(409-411)gCg>gTg	p.A137V	SRSF5_ENST00000557154.1_Missense_Mutation_p.A137V|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.A137V|SRSF5_ENST00000553635.1_Missense_Mutation_p.A134V			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	137	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						GTAACGTTTGCGGATGCACAC	0.373																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(409-411)gCg>gTg		serine/arginine-rich splicing factor 5							91.0	84.0	86.0					14																	70237227		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70237227C>T	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.410C>T	14.37:g.70237227C>T	ENSP00000452123:p.Ala137Val					SRSF5_ENST00000553635.1_Missense_Mutation_p.A134V|SRSF5_ENST00000394366.2_Missense_Mutation_p.A137V|SRSF5_ENST00000557154.1_Missense_Mutation_p.A137V|SRSF5_ENST00000556587.1_3'UTR	p.A137V			Q13243	SRSF5_HUMAN			7	1863	+			137			RRM 2.		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.410C>T	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868801	0.17322	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.93	5.04	0.67666	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.147825	0.64402	D	0.000010	T	0.12732	0.0309	L	0.43701	1.375	0.80722	D	1	P;P	0.39665	0.633;0.682	B;B	0.32805	0.138;0.153	T	0.03060	-1.1077	10	0.44086	T	0.13	.	15.2917	0.73870	0.0:0.9328:0.0:0.0672	.	134;137	Q13243-3;Q13243	.;SRSF5_HUMAN	V	137;137;137;134	ENSP00000452123:A137V;ENSP00000377892:A137V;ENSP00000451088:A137V;ENSP00000451391:A134V	ENSP00000377892:A137V	A	+	2	0	SRSF5	69306980	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.765000	0.68834	1.519000	0.48950	-0.150000	0.13652	GCG		0.373	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		28	53	0	0	0	1	0	28	53				
CSDE1	7812	broad.mit.edu	37	1	115273208	115273208	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115273208C>T	ENST00000358528.4	-	11	1538	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	CSDE1_ENST00000438362.2_Missense_Mutation_p.R417H|CSDE1_ENST00000261443.5_Missense_Mutation_p.R340H|CSDE1_ENST00000339438.6_Missense_Mutation_p.R340H|CSDE1_ENST00000534699.1_Missense_Mutation_p.R371H|CSDE1_ENST00000530886.1_Missense_Mutation_p.R241H|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000369530.1_Missense_Mutation_p.R386H	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	371	CSD 5.			IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787). {ECO:0000305}.	male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGAACATACGAACATCACG	0.418																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1249-1251)cGt>cAt		cold shock domain containing E1, RNA-binding							157.0	141.0	146.0					1																	115273208		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115273208C>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1112G>A	1.37:g.115273208C>T	ENSP00000351329:p.Arg371His					CSDE1_ENST00000530886.1_Missense_Mutation_p.R241H|CSDE1_ENST00000369530.1_Missense_Mutation_p.R386H|CSDE1_ENST00000358528.4_Missense_Mutation_p.R371H|CSDE1_ENST00000261443.5_Missense_Mutation_p.R340H|CSDE1_ENST00000534699.1_Missense_Mutation_p.R371H|CSDE1_ENST00000339438.6_Missense_Mutation_p.R340H	p.R417H	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	1628	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	371					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1250G>A	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344096	0.82022	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.63	2.79	0.32731	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Cold-shock conserved site (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.64997	1.995	0.53688	D	0.99997	D;P;D	0.89917	1.0;0.621;0.999	D;B;D	0.79784	0.993;0.198;0.937	T	0.64748	-0.6334	9	0.72032	D	0.01	-0.5804	10.6725	0.45766	0.0:0.7944:0.0:0.2056	.	386;371;417	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	H	340;417;371;340;241;386;371	.	ENSP00000261443:R340H	R	-	2	0	CSDE1	115074731	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.487000	0.81328	0.341000	0.23771	-0.145000	0.13849	CGT		0.418	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		11	63	0	0	0	1	0	11	63				
KCNH1	3756	broad.mit.edu	37	1	211093189	211093189	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211093189G>T	ENST00000271751.4	-	7	1282	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	KCNH1_ENST00000367007.4_Missense_Mutation_p.L392M			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	419					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTTGGTACAGCCAGCTGTTG	0.527																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1174-1176)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 1							222.0	190.0	201.0					1																	211093189		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093189G>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1255C>A	1.37:g.211093189G>T	ENSP00000271751:p.Leu419Met					KCNH1_ENST00000271751.4_Missense_Mutation_p.L419M	p.L392M	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1343	-			419					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1174C>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640080	0.87760	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99311	-5.63;-5.73	5.8	5.8	0.92144	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99823	1.1048	10	0.87932	D	0	.	19.0426	0.93006	0.0:0.0:1.0:0.0	.	392;419	Q14CL3;O95259	.;KCNH1_HUMAN	M	419;392	ENSP00000271751:L419M;ENSP00000355974:L392M	ENSP00000271751:L419M	L	-	1	2	KCNH1	209159812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.489000	0.66875	2.748000	0.94277	0.655000	0.94253	CTG		0.527	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		37	61	1	0	2.20474e-14	1	2.81294e-14	37	61				
INSC	387755	broad.mit.edu	37	11	15170751	15170751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15170751G>A	ENST00000379554.3	+	2	218	c.172G>A	c.(172-174)Gac>Aac	p.D58N	INSC_ENST00000424273.1_Missense_Mutation_p.D11N|INSC_ENST00000525218.1_Missense_Mutation_p.D11N|INSC_ENST00000379556.3_Missense_Mutation_p.D11N|INSC_ENST00000528567.1_Missense_Mutation_p.D11N|INSC_ENST00000530161.1_Missense_Mutation_p.D11N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	58					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGCCACCTGGACTCCGTCAC	0.607																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(172-174)Gac>Aac		inscuteable homolog (Drosophila)							54.0	54.0	54.0					11																	15170751		2200	4294	6494	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15170751G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.172G>A	11.37:g.15170751G>A	ENSP00000368872:p.Asp58Asn					INSC_ENST00000379556.3_Missense_Mutation_p.D11N|INSC_ENST00000530161.1_Missense_Mutation_p.D11N|INSC_ENST00000424273.1_Missense_Mutation_p.D11N|INSC_ENST00000528567.1_Missense_Mutation_p.D11N|INSC_ENST00000525218.1_Missense_Mutation_p.D11N	p.D58N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			2	218	+			58					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.172G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007314	0.54361	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.34472	1.37;1.42;1.38;1.36;1.42;1.38	4.99	4.99	0.66335	.	0.174820	0.32273	N	0.006338	T	0.27419	0.0673	N	0.08118	0	0.34643	D	0.720871	B;B;B;B	0.29301	0.145;0.081;0.241;0.081	B;B;B;B	0.41174	0.074;0.349;0.126;0.079	T	0.42899	-0.9424	10	0.33940	T	0.23	-6.1577	13.6378	0.62233	0.0:0.0:1.0:0.0	.	11;11;11;58	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	58;11;11;11;11;11;11	ENSP00000368872:D58N;ENSP00000368874:D11N;ENSP00000389161:D11N;ENSP00000435022:D11N;ENSP00000436194:D11N;ENSP00000436113:D11N	ENSP00000368872:D58N	D	+	1	0	INSC	15127327	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.235000	0.58666	2.590000	0.87494	0.561000	0.74099	GAC		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		10	22	0	0	0	1	0	10	22				
SLC16A2	6567	broad.mit.edu	37	X	73740957	73740957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73740957G>A	ENST00000587091.1	+	2	740	c.563G>A	c.(562-564)aGc>aAc	p.S188N	SLC16A2_ENST00000276033.5_Missense_Mutation_p.S262N	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	188					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTCCATACCAGCTCCTTCACC	0.502																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(784-786)aGc>aAc		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						88.0	79.0	82.0					X																	73740957		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740957G>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.563G>A	X.37:g.73740957G>A	ENSP00000465734:p.Ser188Asn					SLC16A2_ENST00000587091.1_Missense_Mutation_p.S188N	p.S262N			P36021	MOT8_HUMAN			2	951	+			188					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.785G>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236496	0.79800	.	.	ENSG00000147100	ENST00000276033	T	0.58797	0.31	5.7	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);	0.208125	0.52532	D	0.000080	T	0.77605	0.4155	M	0.85041	2.73	0.47094	D	0.999318	D	0.67145	0.996	D	0.72625	0.978	T	0.81861	-0.0738	10	0.87932	D	0	.	14.8244	0.70101	0.0:0.1407:0.8593:0.0	.	188	P36021	MOT8_HUMAN	N	262	ENSP00000276033:S262N	ENSP00000276033:S262N	S	+	2	0	SLC16A2	73657682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.875000	0.63072	2.388000	0.81334	0.597000	0.82753	AGC		0.502	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			21	38	0	0	0	1	0	21	38				
CARF	79800	broad.mit.edu	37	2	203807607	203807607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203807607G>A	ENST00000402905.3	+	4	544	c.223G>A	c.(223-225)Gca>Aca	p.A75T	CARF_ENST00000434998.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.A75T|CARF_ENST00000414439.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.A63T|CARF_ENST00000320443.8_Missense_Mutation_p.A75T|CARF_ENST00000471271.1_3'UTR|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.A75T|CARF_ENST00000428585.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	75					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GACTCTTTCTGCAGAGCAATT	0.413																																						ENST00000320443.8																			0											c.(223-225)Gca>Aca		calcium responsive transcription factor							97.0	94.0	95.0					2																	203807607		1877	4110	5987	SO:0001583	missense	79800							g.chr2:203807607G>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.223G>A	2.37:g.203807607G>A	ENSP00000384006:p.Ala75Thr					CARF_ENST00000434998.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.A63T|CARF_ENST00000444724.1_Missense_Mutation_p.A75T|CARF_ENST00000545262.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.A75T|CARF_ENST00000428585.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.A75T|CARF_ENST00000414439.1_Intron	p.A75T							4	1266	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.223G>A	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	6.829	0.522193	0.13066	.	.	ENSG00000138380	ENST00000402905;ENST00000431787;ENST00000444724;ENST00000414857;ENST00000443740;ENST00000456821;ENST00000320443;ENST00000438828	.	.	.	5.49	1.0	0.19881	.	0.464503	0.22064	N	0.065137	T	0.25044	0.0608	L	0.38838	1.175	0.25069	N	0.991001	B;B;B	0.15930	0.015;0.003;0.008	B;B;B	0.20184	0.028;0.004;0.019	T	0.31503	-0.9941	9	0.02654	T	1	-5.2151	8.3098	0.32064	0.42:0.0:0.58:0.0	.	75;75;75	B4DRP6;Q8N187;F6SXV3	.;AL2S8_HUMAN;.	T	75;45;75;75;75;63;75;75	.	ENSP00000316224:A75T	A	+	1	0	ALS2CR8	203515852	0.823000	0.29233	0.792000	0.32020	0.299000	0.27559	0.195000	0.17155	0.269000	0.21961	0.563000	0.77884	GCA		0.413	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		5	52	0	0	0	1	0	5	52				
TOR1AIP2	163590	broad.mit.edu	37	1	179815811	179815811	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179815811T>A	ENST00000367612.3	-	6	1195	c.808A>T	c.(808-810)Agt>Tgt	p.S270C	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S270C	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	130										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGGAAGGAACTCTGGCCTGGA	0.507																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(808-810)Agt>Tgt		torsin A interacting protein 2							60.0	64.0	63.0					1																	179815811		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815811T>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.808A>T	1.37:g.179815811T>A	ENSP00000356584:p.Ser270Cys						p.S270C	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			6	1195	-			270					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.808A>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115743	0.77323	.	.	ENSG00000169905	ENST00000367612	T	0.25749	1.78	5.48	5.48	0.80851	.	0.116470	0.64402	D	0.000018	T	0.51058	0.1652	M	0.72479	2.2	0.38099	D	0.937209	D	0.89917	1.0	D	0.85130	0.997	T	0.59069	-0.7523	10	0.72032	D	0.01	-13.3028	15.2538	0.73568	0.0:0.0:0.0:1.0	.	270	Q8NFQ8	TOIP2_HUMAN	C	270	ENSP00000356584:S270C	ENSP00000356584:S270C	S	-	1	0	TOR1AIP2	178082434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.234000	0.51320	2.084000	0.62774	0.533000	0.62120	AGT		0.507	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		40	63	0	0	0	1	0	40	63				
SERPINB9	5272	broad.mit.edu	37	6	2890440	2890440	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2890440C>A	ENST00000380698.4	-	7	1177	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	363					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTGTTGGCTCTGTTGTGCCT	0.552																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(1087-1089)aGa>aTa		serpin peptidase inhibitor, clade B (ovalbumin), member 9							70.0	64.0	66.0					6																	2890440		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2890440C>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1088G>T	6.37:g.2890440C>A	ENSP00000370074:p.Arg363Ile						p.R363I	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			7	1177	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	363					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.1088G>T	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604851	0.28623	.	.	ENSG00000170542	ENST00000380698	D	0.84660	-1.88	4.66	-9.32	0.00643	Serpin domain (3);	1.168800	0.05905	N	0.630569	T	0.55337	0.1914	N	0.17594	0.5	0.09310	N	1	B	0.27416	0.178	B	0.36335	0.222	T	0.63625	-0.6595	10	0.40728	T	0.16	.	11.2886	0.49237	0.0:0.1851:0.4937:0.3212	.	363	P50453	SPB9_HUMAN	I	363	ENSP00000370074:R363I	ENSP00000370074:R363I	R	-	2	0	SERPINB9	2835439	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-1.539000	0.02202	-3.202000	0.00217	-0.878000	0.02970	AGA		0.552	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			5	40	1	0	0.014758	1	0.0152625	5	40				
ZNF311	282890	broad.mit.edu	37	6	28964268	28964268	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28964268G>T	ENST00000377179.3	-	7	1023	c.511C>A	c.(511-513)Ctc>Atc	p.L171I	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACTTTTAGGAGACTGTTAAAT	0.388																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(511-513)Ctc>Atc		zinc finger protein 311							81.0	95.0	90.0					6																	28964268		1509	2707	4216	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28964268G>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.511C>A	6.37:g.28964268G>T	ENSP00000366384:p.Leu171Ile					ZNF311_ENST00000483450.1_5'UTR	p.L171I	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1023	-			171					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.511C>A	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	7.197	0.592791	0.13875	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.05447	3.44	3.77	1.9	0.25705	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.47222	-0.9134	9	0.17369	T	0.5	-0.8865	10.4055	0.44254	0.0:0.3866:0.6134:0.0	.	171	Q5JNZ3	ZN311_HUMAN	I	171;79	ENSP00000366384:L171I	ENSP00000366384:L171I	L	-	1	0	ZNF311	29072247	.	.	0.006000	0.13384	0.114000	0.19823	.	.	0.324000	0.23333	-0.196000	0.12772	CTC		0.388	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		22	64	1	0	9.95505e-16	1	1.27953e-15	22	64				
TMEM2	23670	broad.mit.edu	37	9	74345048	74345048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345048G>A	ENST00000377044.4	-	9	2434	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P569L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	632					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTATCGGTGGGCAGGAGAGT	0.458																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1894-1896)cCc>cTc		transmembrane protein 2							145.0	129.0	135.0					9																	74345048		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74345048G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1895C>T	9.37:g.74345048G>A	ENSP00000366243:p.Pro632Leu					TMEM2_ENST00000377066.5_Missense_Mutation_p.P569L	p.P632L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	9	2434	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	632					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1895C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480170	0.96307	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.92249	-3.0;-3.0	5.72	5.72	0.89469	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	D	0.94383	0.7606	10	0.39692	T	0.17	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	632;569	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	632;569	ENSP00000366243:P632L;ENSP00000366266:P569L	ENSP00000366243:P632L	P	-	2	0	TMEM2	73534868	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.320000	0.96346	2.696000	0.92011	0.650000	0.86243	CCC		0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		21	58	0	0	0	1	0	21	58				
ADAM12	8038	broad.mit.edu	37	10	127797171	127797171	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127797171G>A	ENST00000368679.4	-	8	1050	c.741C>T	c.(739-741)caC>caT	p.H247H	ADAM12_ENST00000368676.4_Silent_p.H247H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	247	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGTCAACGTGATTAGCAA	0.363																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(739-741)caC>caT		ADAM metallopeptidase domain 12							197.0	173.0	181.0					10																	127797171		2203	4299	6502	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127797171G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.741C>T	10.37:g.127797171G>A						ADAM12_ENST00000368676.4_Silent_p.H247H	p.H247H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	8	1050	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	247			Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.741C>T	CCDS7653.1																																																																																				0.363	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			24	47	0	0	0	1	0	24	47				
SEMA3E	9723	broad.mit.edu	37	7	83119465	83119465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83119465G>T	ENST00000307792.3	-	2	708	c.241C>A	c.(241-243)Ctc>Atc	p.L81I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.L21I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	81	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCAAGCTGAGGGAATATACA	0.403																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(241-243)Ctc>Atc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							85.0	79.0	81.0					7																	83119465		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119465G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.241C>A	7.37:g.83119465G>T	ENSP00000303212:p.Leu81Ile					SEMA3E_ENST00000427262.1_Missense_Mutation_p.L21I	p.L81I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			2	708	-		Medulloblastoma(109;0.109)	81			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.241C>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654135	0.88056	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.41065	1.01;1.01;1.01	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61476	0.2350	M	0.64630	1.985	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	T	0.62581	-0.6824	10	0.87932	D	0	.	13.5049	0.61479	0.0711:0.0:0.9289:0.0	.	81	O15041	SEM3E_HUMAN	I	81;21;81;21	ENSP00000303212:L81I;ENSP00000405052:L21I;ENSP00000412867:L21I	ENSP00000303212:L81I	L	-	1	0	SEMA3E	82957401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.449000	0.73473	2.814000	0.96858	0.585000	0.79938	CTC		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		5	70	1	0	2.0095e-06	1	2.31757e-06	5	70				
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072507G>A	ENST00000389484.3	-	83	13773	c.12802C>T	c.(12802-12804)Cta>Tta	p.L4268L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L4268I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTTACCTAGAACTGATGGT	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.L4268I(1)	lung(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12802-12804)Cta>Tta		low density lipoprotein receptor-related protein 1B							110.0	106.0	107.0					2																	141072507		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072507G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12802C>T	2.37:g.141072507G>A		TSP Lung(27;0.18)					p.L4268L	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13773	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4268			EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12802C>T	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	29	0	0	0	1	0	13	29				
KCNK1	3775	broad.mit.edu	37	1	233802625	233802625	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233802625G>A	ENST00000366621.3	+	2	808	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	KCNK1_ENST00000366620.1_Missense_Mutation_p.E98K|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	214					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GAACTTCCTGGAATCCTTTTA	0.483																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(640-642)Gaa>Aaa		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						108.0	107.0	107.0					1																	233802625		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802625G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.640G>A	1.37:g.233802625G>A	ENSP00000355580:p.Glu214Lys					KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.E98K	p.E214K	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	808	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	214					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.640G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543366	0.96474	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;T;T	0.30448	1.53;1.53;1.53	5.7	5.7	0.88788	Ion transport 2 (1);	0.042901	0.85682	D	0.000000	T	0.53077	0.1774	M	0.71296	2.17	0.80722	D	1	D	0.56746	0.977	P	0.57283	0.817	T	0.54390	-0.8301	10	0.72032	D	0.01	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	214	O00180	KCNK1_HUMAN	K	214;98;132	ENSP00000355580:E214K;ENSP00000355579:E98K;ENSP00000409626:E132K	ENSP00000355579:E98K	E	+	1	0	KCNK1	231869248	1.000000	0.71417	0.674000	0.29902	0.991000	0.79684	9.612000	0.98347	2.683000	0.91414	0.655000	0.94253	GAA		0.483	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		28	69	0	0	0	1	0	28	69				
UACA	55075	broad.mit.edu	37	15	70960101	70960101	+	Silent	SNP	G	G	A	rs149154885		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70960101G>A	ENST00000322954.6	-	16	3107	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	UACA_ENST00000379983.2_Silent_p.L961L|UACA_ENST00000539319.1_Silent_p.L865L|UACA_ENST00000560441.1_Silent_p.L959L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	974					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTATTGTGTCGAGCTCCTTCT	0.418																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2920-2922)ctC>ctT		uveal autoantigen with coiled-coil domains and ankyrin repeats		G	,	1,4397	2.1+/-5.4	0,1,2198	187.0	173.0	178.0		2883,2922	-11.9	0.0	15	dbSNP_134	178	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	UACA	NM_001008224.1,NM_018003.2	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	961/1404,974/1417	70960101	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70960101G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2922C>T	15.37:g.70960101G>A						UACA_ENST00000539319.1_Silent_p.L865L|UACA_ENST00000379983.2_Silent_p.L961L|UACA_ENST00000560441.1_Silent_p.L959L	p.L974L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3107	-			974					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.2922C>T	CCDS10235.1																																																																																				0.418	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			49	67	0	0	0	1	0	49	67				
C18orf32	497661	broad.mit.edu	37	18	47009974	47009974	+	Missense_Mutation	SNP	T	T	G	rs376746396		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47009974T>G	ENST00000318240.3	-	2	356	c.145A>C	c.(145-147)Aaa>Caa	p.K49Q	C18orf32_ENST00000582392.1_Missense_Mutation_p.K49Q|RPL17-C18orf32_ENST00000332968.6_Silent_p.T187T|C18orf32_ENST00000579820.1_Missense_Mutation_p.K49Q|RPL17-C18orf32_ENST00000584895.1_Silent_p.T225T|RP11-110H1.4_ENST00000580150.1_RNA	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	49					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)		signal transducer activity (GO:0004871)			large_intestine(2)|lung(1)	3						ACTTTGCCTTTGTTTGTATCA	0.393																																						ENST00000318240.3																			0				large_intestine(2)|lung(1)	3						c.(145-147)Aaa>Caa		chromosome 18 open reading frame 32							263.0	242.0	249.0					18																	47009974		2203	4300	6503	SO:0001583	missense	497661				positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity	g.chr18:47009974T>G	AK027111	CCDS32831.1	18q21.1	2012-10-24			ENSG00000177576	ENSG00000177576			31690	protein-coding gene	gene with protein product							Standard	NM_001035005		Approved	FLJ23458	uc002ldl.3	Q8TCD1	OTTHUMG00000179688	ENST00000318240.3:c.145A>C	18.37:g.47009974T>G	ENSP00000323199:p.Lys49Gln					C18orf32_ENST00000582392.1_Missense_Mutation_p.K49Q|RPL17-C18orf32_ENST00000584895.1_Silent_p.T225T|C18orf32_ENST00000579820.1_Missense_Mutation_p.K49Q|RPL17-C18orf32_ENST00000332968.6_Silent_p.T187T	p.K49Q	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN			2	356	-			49						Missense_Mutation	SNP	ENST00000318240.3	37	c.145A>C	CCDS32831.1	.	.	.	.	.	.	.	.	.	.	T	2.273	-0.366465	0.05069	.	.	ENSG00000177576	ENST00000318240	T	0.42900	0.96	5.37	4.26	0.50523	.	0.412831	0.20992	U	0.082005	T	0.27241	0.0668	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.10543	-1.0625	9	0.30078	T	0.28	-2.3081	5.9901	0.19456	0.0:0.0988:0.3016:0.5996	.	49	Q8TCD1	CR032_HUMAN	Q	49	ENSP00000323199:K49Q	ENSP00000323199:K49Q	K	-	1	0	C18orf32	45263972	0.045000	0.20229	0.111000	0.21465	0.133000	0.20885	2.037000	0.41174	2.039000	0.60335	0.533000	0.62120	AAA		0.393	C18orf32-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447656.1	NM_001035005		23	177	0	0	0	1	0	23	177				
ANK3	288	broad.mit.edu	37	10	61834476	61834476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61834476C>T	ENST00000280772.2	-	37	6354	c.6163G>A	c.(6163-6165)Gat>Aat	p.D2055N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2055					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTGCATCCTCAAACTTG	0.398																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(6163-6165)Gat>Aat		ankyrin 3, node of Ranvier (ankyrin G)							116.0	111.0	112.0					10																	61834476		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834476C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6163G>A	10.37:g.61834476C>T	ENSP00000280772:p.Asp2055Asn					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.D2055N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6354	-			2055					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6163G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086059	0.76642	.	.	ENSG00000151150	ENST00000280772	T	0.59364	0.27	5.8	5.8	0.92144	.	0.159714	0.29093	N	0.013177	T	0.54415	0.1857	L	0.36672	1.1	0.80722	D	1	P	0.34562	0.457	B	0.36534	0.227	T	0.54523	-0.8281	10	0.52906	T	0.07	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	2055	Q12955	ANK3_HUMAN	N	2055	ENSP00000280772:D2055N	ENSP00000280772:D2055N	D	-	1	0	ANK3	61504482	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.032000	0.70918	2.755000	0.94549	0.655000	0.94253	GAT		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	115	0	0	0	1	0	6	115				
B4GALNT3	283358	broad.mit.edu	37	12	665976	665976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:665976G>A	ENST00000266383.5	+	15	2337	c.2324G>A	c.(2323-2325)tGc>tAc	p.C775Y		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	775					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAAGCTGTGCTGGCCTCAG	0.652																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2323-2325)tGc>tAc		beta-1,4-N-acetyl-galactosaminyl transferase 3							55.0	44.0	48.0					12																	665976		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:665976G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2324G>A	12.37:g.665976G>A	ENSP00000266383:p.Cys775Tyr						p.C775Y	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		15	2337	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		775					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2324G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674800	0.88445	.	.	ENSG00000139044	ENST00000266383	T	0.34275	1.37	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68492	-0.5394	10	0.72032	D	0.01	-29.8942	19.0554	0.93062	0.0:0.0:1.0:0.0	.	775	Q6L9W6	B4GN3_HUMAN	Y	775	ENSP00000266383:C775Y	ENSP00000266383:C775Y	C	+	2	0	B4GALNT3	536237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.126000	0.94411	2.612000	0.88384	0.655000	0.94253	TGC		0.652	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		10	17	0	0	0	1	0	10	17				
PTPN14	5784	broad.mit.edu	37	1	214557133	214557133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214557133G>A	ENST00000366956.5	-	13	2259	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	689					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TACTGAGGGAGCTGGGGGACC	0.632																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2065-2067)Ctc>Ttc		protein tyrosine phosphatase, non-receptor type 14							60.0	59.0	60.0					1																	214557133		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557133G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2065C>T	1.37:g.214557133G>A	ENSP00000355923:p.Leu689Phe					PTPN14_ENST00000543945.1_3'UTR	p.L689F	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2259	-			689					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2065C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002767	0.07819	.	.	ENSG00000152104	ENST00000366956	T	0.67865	-0.29	4.68	4.68	0.58851	.	0.381334	0.27168	N	0.020618	T	0.57533	0.2060	L	0.44542	1.39	0.80722	D	1	P	0.39216	0.664	B	0.36030	0.216	T	0.58640	-0.7601	10	0.32370	T	0.25	.	14.3739	0.66860	0.0:0.1598:0.8402:0.0	.	689	Q15678	PTN14_HUMAN	F	689	ENSP00000355923:L689F	ENSP00000355923:L689F	L	-	1	0	PTPN14	212623756	1.000000	0.71417	0.043000	0.18650	0.182000	0.23217	4.409000	0.59768	2.159000	0.67721	0.563000	0.77884	CTC		0.632	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		25	23	0	0	0	1	0	25	23				
IQGAP1	8826	broad.mit.edu	37	15	91027504	91027504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91027504G>A	ENST00000268182.5	+	30	3965	c.3841G>A	c.(3841-3843)Gtg>Atg	p.V1281M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V709M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1281	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAATTTAATGTGGATGAGTA	0.398																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3841-3843)Gtg>Atg		IQ motif containing GTPase activating protein 1							131.0	126.0	128.0					15																	91027504		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91027504G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3841G>A	15.37:g.91027504G>A	ENSP00000268182:p.Val1281Met					IQGAP1_ENST00000560738.1_Missense_Mutation_p.V709M	p.V1281M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		30	3965	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1281			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3841G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315677	0.23908	.	.	ENSG00000140575	ENST00000268182	T	0.45276	0.9	5.55	5.55	0.83447	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.073313	0.53938	D	0.000042	T	0.25644	0.0624	N	0.20445	0.575	0.58432	D	0.999999	B	0.10296	0.003	B	0.14023	0.01	T	0.08680	-1.0710	10	0.08179	T	0.78	-23.7457	12.1801	0.54208	0.0866:0.0:0.9134:0.0	.	1281	P46940	IQGA1_HUMAN	M	1281	ENSP00000268182:V1281M	ENSP00000268182:V1281M	V	+	1	0	IQGAP1	88828508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.499000	0.73683	2.770000	0.95276	0.650000	0.86243	GTG		0.398	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		23	74	0	0	0	1	0	23	74				
MMP25	64386	broad.mit.edu	37	16	3100124	3100124	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3100124A>G	ENST00000336577.4	+	3	584	c.347A>G	c.(346-348)aAg>aGg	p.K116R	RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	131					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	AGCGTGTGGAAGAAGCGAACC	0.706																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(346-348)aAg>aGg		matrix metallopeptidase 25							67.0	69.0	68.0					16																	3100124		2197	4299	6496	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100124A>G	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.347A>G	16.37:g.3100124A>G	ENSP00000337816:p.Lys116Arg					MMP25_ENST00000570755.1_3'UTR	p.K116R	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			3	584	+			116					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.347A>G	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	A	1.468	-0.560594	0.03939	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.22134	1.97	5.06	2.8	0.32819	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.382752	0.22012	N	0.065845	T	0.09423	0.0232	N	0.11724	0.165	0.26449	N	0.975647	B;B	0.15930	0.015;0.005	B;B	0.18263	0.021;0.008	T	0.39251	-0.9623	10	0.08381	T	0.77	.	7.6711	0.28460	0.8199:0.0:0.1801:0.0	.	40;116	O43923;Q9NPA2	.;MMP25_HUMAN	R	116;43	ENSP00000337816:K116R	ENSP00000324953:K43R	K	+	2	0	MMP25	3040125	0.018000	0.18449	1.000000	0.80357	0.275000	0.26752	1.060000	0.30530	0.280000	0.22209	0.533000	0.62120	AAG		0.706	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		10	63	0	0	0	1	0	10	63				
XRCC2	7516	broad.mit.edu	37	7	152346195	152346195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152346195G>A	ENST00000359321.1	-	3	460	c.375C>T	c.(373-375)caC>caT	p.H125H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	125					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TAAGAAGTAAGTGGGTGCTAC	0.388								Homologous recombination																														ENST00000359321.1																			0				NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(373-375)caC>caT	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							80.0	80.0	80.0					7																	152346195		2203	4300	6503	SO:0001819	synonymous_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346195G>A	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.375C>T	7.37:g.152346195G>A						XRCC2_ENST00000495707.1_5'UTR	p.H125H	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	460	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	125					B2R925	Silent	SNP	ENST00000359321.1	37	c.375C>T	CCDS5933.1																																																																																				0.388	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		49	38	0	0	0	1	0	49	38				
AMIGO1	57463	broad.mit.edu	37	1	110050173	110050173	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050173G>A	ENST00000369864.4	-	2	1711	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	AMIGO1_ENST00000369862.1_Silent_p.N454N					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGCTTGCCGTTTTGACCCT	0.592																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1360-1362)aaC>aaT		adhesion molecule with Ig-like domain 1							95.0	83.0	87.0					1																	110050173		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050173G>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1362C>T	1.37:g.110050173G>A						AMIGO1_ENST00000369862.1_Silent_p.N454N	p.N454N			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1711	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	454	N -> S (in Ref. 4; AAH40879).					Silent	SNP	ENST00000369864.4	37	c.1362C>T	CCDS30795.1																																																																																				0.592	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		27	67	0	0	0	1	0	27	67				
TECPR2	9895	broad.mit.edu	37	14	102881081	102881081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102881081T>C	ENST00000359520.7	+	5	815	c.589T>C	c.(589-591)Tac>Cac	p.Y197H	TECPR2_ENST00000558678.1_Missense_Mutation_p.Y197H|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	197					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGCTCTTTTACACTGAAGA	0.453																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(589-591)Tac>Cac		tectonin beta-propeller repeat containing 2							143.0	137.0	139.0					14																	102881081		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102881081T>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.589T>C	14.37:g.102881081T>C	ENSP00000352510:p.Tyr197His					TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.Y197H	p.Y197H	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			5	815	+			197					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.589T>C	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785466	0.49997	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01538	4.79	4.89	3.74	0.42951	WD40 repeat-like-containing domain (1);	0.127908	0.56097	D	0.000028	T	0.05273	0.0140	M	0.69823	2.125	0.32358	N	0.557619	P;D;D	0.60160	0.93;0.987;0.973	P;P;P	0.53313	0.564;0.723;0.649	T	0.13335	-1.0513	10	0.37606	T	0.19	.	10.3145	0.43729	0.0:0.078:0.0:0.922	.	197;197;197	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	H	197	ENSP00000352510:Y197H	ENSP00000352510:Y197H	Y	+	1	0	TECPR2	101950834	1.000000	0.71417	0.892000	0.35008	0.928000	0.56348	3.858000	0.55979	0.722000	0.32252	0.459000	0.35465	TAC		0.453	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		46	77	0	0	0	1	0	46	77				
NDUFS1	4719	broad.mit.edu	37	2	207017192	207017192	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207017192A>T	ENST00000233190.6	-	3	370	c.104T>A	c.(103-105)tTt>tAt	p.F35Y	NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000455934.2_Missense_Mutation_p.F49Y|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000449699.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000432169.1_Intron	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	35	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCATCAACAAATACTTCAAT	0.383																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(103-105)tTt>tAt		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						132.0	111.0	118.0					2																	207017192		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207017192A>T		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.104T>A	2.37:g.207017192A>T	ENSP00000233190:p.Phe35Tyr					NDUFS1_ENST00000455934.2_Missense_Mutation_p.F49Y|NDUFS1_ENST00000440274.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000449699.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000457011.1_Intron	p.F35Y	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			3	370	-			35			2Fe-2S ferredoxin-type.		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.104T>A	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884064	0.91814	.	.	ENSG00000023228	ENST00000233190;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000454195	T;D;T;T;T	0.89875	-0.96;-2.58;-0.96;-0.96;-0.96	5.9	5.9	0.94986	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.89497	0.6732	L	0.46885	1.475	0.80722	D	1	B;P;P	0.36125	0.258;0.538;0.538	B;P;P	0.49085	0.228;0.6;0.464	D	0.85714	0.1321	10	0.10902	T	0.67	-24.1058	16.3245	0.82970	1.0:0.0:0.0:0.0	.	35;49;35	E7ENF3;B4DJA0;P28331	.;.;NDUS1_HUMAN	Y	35;35;49;35;35	ENSP00000233190:F35Y;ENSP00000409766:F35Y;ENSP00000392709:F49Y;ENSP00000399912:F35Y;ENSP00000389413:F35Y	ENSP00000233190:F35Y	F	-	2	0	NDUFS1	206725437	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.707000	0.91367	2.254000	0.74563	0.460000	0.39030	TTT		0.383	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		5	56	0	0	0	1	0	5	56				
APBA1	320	broad.mit.edu	37	9	72131307	72131307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131307C>A	ENST00000265381.4	-	2	1042	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	274	Munc-18-1 binding.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTCGGCCACTATCTGGTCG	0.677																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(820-822)Gtg>Ttg		amyloid beta (A4) precursor protein-binding, family A, member 1							46.0	31.0	36.0					9																	72131307		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131307C>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.820G>T	9.37:g.72131307C>A	ENSP00000265381:p.Val274Leu						p.V274L	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1042	-			274			Munc-18-1 binding.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.820G>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429205	0.62844	.	.	ENSG00000107282	ENST00000265381	T	0.09073	3.02	5.68	5.68	0.88126	.	0.069140	0.56097	D	0.000021	T	0.08802	0.0218	L	0.27053	0.805	0.52501	D	0.999958	B	0.29037	0.231	B	0.25140	0.058	T	0.21348	-1.0248	10	0.48119	T	0.1	.	19.7761	0.96393	0.0:1.0:0.0:0.0	.	274	Q02410	APBA1_HUMAN	L	274	ENSP00000265381:V274L	ENSP00000265381:V274L	V	-	1	0	APBA1	71321127	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.587000	0.67510	2.687000	0.91594	0.561000	0.74099	GTG		0.677	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		5	17	1	0	1	1	1	5	17				
CD2AP	23607	broad.mit.edu	37	6	47471062	47471062	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47471062A>G	ENST00000359314.5	+	2	507	c.51A>G	c.(49-51)gaA>gaG	p.E17E		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	17	Interaction with ANLN and localization to the midbody.|SH3 1; truncated. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATGATGATGAATTAACTATTC	0.373																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(49-51)gaA>gaG		CD2-associated protein							151.0	143.0	146.0					6																	47471062		2203	4300	6503	SO:0001819	synonymous_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47471062A>G	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.51A>G	6.37:g.47471062A>G							p.E17E	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		2	507	+			17			Interaction with ANLN and localization to the midbody.|SH3 1; truncated.		A6NL34|Q5VYA3|Q9UG97	Silent	SNP	ENST00000359314.5	37	c.51A>G	CCDS34472.1																																																																																				0.373	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			7	80	0	0	0	1	0	7	80				
PROKR1	10887	broad.mit.edu	37	2	68882376	68882376	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68882376C>A	ENST00000303786.3	+	3	1270	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	PROKR1_ENST00000394342.2_Missense_Mutation_p.L284M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	284					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAAGACGGTCCTGGTGCTCAT	0.612																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(850-852)Ctg>Atg		prokineticin receptor 1							97.0	78.0	85.0					2																	68882376		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882376C>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.850C>A	2.37:g.68882376C>A	ENSP00000303775:p.Leu284Met					PROKR1_ENST00000394342.2_Missense_Mutation_p.L284M	p.L284M			Q8TCW9	PKR1_HUMAN			3	1270	+			284					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.850C>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727182	0.15439	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.37915	1.17;1.17	4.55	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.213000	0.45126	D	0.000384	T	0.20210	0.0486	N	0.16233	0.39	0.23708	N	0.997057	B	0.22800	0.075	B	0.23018	0.043	T	0.16837	-1.0389	10	0.59425	D	0.04	.	6.9172	0.24367	0.0:0.6355:0.0:0.3645	.	284	Q8TCW9	PKR1_HUMAN	M	284	ENSP00000303775:L284M;ENSP00000377874:L284M	ENSP00000303775:L284M	L	+	1	2	PROKR1	68735880	0.001000	0.12720	0.642000	0.29436	0.935000	0.57460	-0.107000	0.10873	0.426000	0.26116	-0.219000	0.12488	CTG		0.612	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			11	32	1	0	0.0135373	1	0.0140872	11	32				
PCDH20	64881	broad.mit.edu	37	13	61986332	61986332	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61986332C>T	ENST00000409186.1	-	5	4005	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D634N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	634	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGACTGTTGTCATTTTTATCC	0.438																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1900-1902)Gac>Aac		protocadherin 20							124.0	117.0	120.0					13																	61986332		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986332C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1900G>A	13.37:g.61986332C>T	ENSP00000386653:p.Asp634Asn					PCDH20_ENST00000409204.4_Missense_Mutation_p.D634N	p.D634N			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4005	-		Breast(118;0.195)|Prostate(109;0.229)	607			Cadherin 5.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1900G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291467	0.80914	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.71579	-0.58;-0.58	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000004	D	0.89476	0.6726	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91355	0.5107	10	0.87932	D	0	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	634	A8K1K9	.	N	634;634;380	ENSP00000387250:D634N;ENSP00000386653:D634N	ENSP00000351500:D380N	D	-	1	0	PCDH20	60884333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.812000	0.96745	0.557000	0.71058	GAC		0.438	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		4	49	0	0	0	1	0	4	49				
KRT28	162605	broad.mit.edu	37	17	38948722	38948722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38948722G>T	ENST00000306658.7	-	8	1417	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGTCATTTTAGATGTCTTTTC	0.373																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1351-1353)tCt>tAt		keratin 28							130.0	119.0	123.0					17																	38948722		2202	4300	6502	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38948722G>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1352C>A	17.37:g.38948722G>T	ENSP00000305263:p.Ser451Tyr						p.S451Y	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			8	1417	-		Breast(137;0.000301)	451			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1352C>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723290	0.68959	.	.	ENSG00000173908	ENST00000306658	D	0.83506	-1.73	6.1	5.14	0.70334	.	0.394453	0.22077	N	0.064945	D	0.82287	0.5004	L	0.43923	1.385	0.31949	N	0.609889	P	0.36944	0.574	P	0.45946	0.498	D	0.85822	0.1386	10	0.87932	D	0	.	11.1821	0.48633	0.0834:0.0:0.9166:0.0	.	451	Q7Z3Y7	K1C28_HUMAN	Y	451	ENSP00000305263:S451Y	ENSP00000305263:S451Y	S	-	2	0	KRT28	36202248	0.209000	0.23505	0.982000	0.44146	0.966000	0.64601	2.290000	0.43531	1.597000	0.50072	0.650000	0.86243	TCT		0.373	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		6	36	1	0	3.59834e-05	1	4.01776e-05	6	36				
NCKAP1	10787	broad.mit.edu	37	2	183853816	183853816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183853816G>A	ENST00000361354.4	-	9	1261	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R303W	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	297					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCATCCCGAAAGAGAGAG	0.403																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(907-909)Cgg>Tgg		NCK-associated protein 1							95.0	88.0	90.0					2																	183853816		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183853816G>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.889C>T	2.37:g.183853816G>A	ENSP00000355348:p.Arg297Trp					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R297W	p.R303W	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		10	1665	-			297					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.907C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019893	0.75275	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.57752	0.38;0.38	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79125	-0.1932	10	0.87932	D	0	-9.0428	14.2939	0.66298	0.0:0.0:0.7397:0.2603	.	297;303	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	W	297;303	ENSP00000355348:R297W;ENSP00000354251:R303W	ENSP00000354251:R303W	R	-	1	2	NCKAP1	183562061	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.737000	0.55060	2.873000	0.98535	0.563000	0.77884	CGG		0.403	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		25	44	0	0	0	1	0	25	44				
C1orf86	199990	broad.mit.edu	37	1	2125253	2125253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2125253G>A	ENST00000378546.4	-	3	319	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378545.3_Missense_Mutation_p.R202C|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	99					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGGTAGGAACGGCCCGGGCCC	0.706																																						ENST00000378545.3																			0				central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(604-606)Cgt>Tgt		chromosome 1 open reading frame 86							24.0	32.0	29.0					1																	2125253		2197	4296	6493	SO:0001583	missense	199990							g.chr1:2125253G>A	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.295C>T	1.37:g.2125253G>A	ENSP00000367808:p.Arg99Cys					C1orf86_ENST00000378546.4_Missense_Mutation_p.R99C|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR	p.R202C			Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	603	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	99					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	c.604C>T	CCDS38.2	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445126	0.25987	.	.	ENSG00000162585	ENST00000400918;ENST00000378546;ENST00000378545	T;T;T	0.50548	0.8;0.82;0.74	3.47	-4.42	0.03579	.	0.353252	0.20085	N	0.099564	T	0.24044	0.0582	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.06643	-1.0815	9	0.51188	T	0.08	-4.9487	0.9101	0.01293	0.2598:0.3206:0.2597:0.1599	.	99	Q6NZ36	CA086_HUMAN	C	99;99;202	ENSP00000383709:R99C;ENSP00000367808:R99C;ENSP00000367807:R202C	ENSP00000367807:R202C	R	-	1	0	C1orf86	2115113	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.999000	0.03697	-0.587000	0.05890	-0.448000	0.05591	CGT		0.706	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		18	25	0	0	0	1	0	18	25				
PLA2G5	5322	broad.mit.edu	37	1	20412576	20412576	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20412576G>A	ENST00000375108.3	+	3	309	c.41G>A	c.(40-42)aGt>aAt	p.S14N	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	14					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TATCTTCCAGGTGTGCCTGCT	0.572																																						ENST00000375108.3																			0				NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e3-1		phospholipase A2, group V							83.0	71.0	75.0					1																	20412576		2203	4300	6503	SO:0001630	splice_region_variant	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412576G>A	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.41-1G>A	1.37:g.20412576G>A						PLA2G5_ENST00000486277.1_3'UTR	p.S14_splice	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	3	309	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	14					Q8N435	Splice_Site	SNP	ENST00000375108.3	37	c.40_splice	CCDS202.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775343	0.49786	.	.	ENSG00000127472	ENST00000375108	T	0.27402	1.67	5.25	4.32	0.51571	.	0.454489	0.20712	N	0.087068	T	0.27349	0.0671	L	0.50333	1.59	0.28969	N	0.88938	B	0.27498	0.18	B	0.23574	0.047	T	0.12400	-1.0549	9	.	.	.	.	12.0282	0.53384	0.0:0.1741:0.8259:0.0	.	14	P39877	PA2G5_HUMAN	N	14	ENSP00000364249:S14N	.	S	+	2	0	PLA2G5	20285163	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.690000	0.47001	1.310000	0.45006	0.650000	0.86243	AGT		0.572	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929	Missense_Mutation	7	18	0	0	0	1	0	7	18				
FERMT1	55612	broad.mit.edu	37	20	6096604	6096604	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6096604T>C	ENST00000217289.4	-	3	1027	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	FERMT1_ENST00000536936.1_De_novo_Start_InFrame	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	80					cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGGACCCCATATTTGTCCAG	0.488																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(238-240)tAt>tGt		fermitin family member 1							63.0	65.0	64.0					20																	6096604		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6096604T>C	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.239A>G	20.37:g.6096604T>C	ENSP00000217289:p.Tyr80Cys					FERMT1_ENST00000536936.1_De_novo_Start_InFrame	p.Y80C	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			3	1027	-			80					D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.239A>G	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	T	9.219	1.032818	0.19590	.	.	ENSG00000101311	ENST00000217289;ENST00000339538;ENST00000378844	T;T	0.15372	2.43;2.43	5.52	-5.02	0.02982	.	0.494819	0.26549	N	0.023744	T	0.07188	0.0182	N	0.13235	0.315	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.19148	0.024;0.007	T	0.26608	-1.0098	10	0.22109	T	0.4	-4.7639	9.3549	0.38159	0.0934:0.3482:0.0:0.5584	.	80;80	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	C	80	ENSP00000217289:Y80C;ENSP00000368121:Y80C	ENSP00000217289:Y80C	Y	-	2	0	FERMT1	6044604	0.002000	0.14202	0.085000	0.20634	0.988000	0.76386	-0.291000	0.08343	-0.819000	0.04323	-0.263000	0.10527	TAT		0.488	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		33	41	0	0	0	1	0	33	41				
SETD2	29072	broad.mit.edu	37	3	47098653	47098653	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47098653C>T	ENST00000409792.3	-	15	6663	c.6621G>A	c.(6619-6621)caG>caA	p.Q2207Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2207	Low charge region.|Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACCAAGGGCTGAGCATGAT	0.557			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6619-6621)caG>caA		SET domain containing 2							90.0	77.0	81.0					3																	47098653		2203	4300	6503	SO:0001819	synonymous_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098653C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6621G>A	3.37:g.47098653C>T							p.Q2207Q	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6663	-		Acute lymphoblastic leukemia(5;0.0169)	2207			Low charge region.|Pro-rich.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	c.6621G>A	CCDS2749.2																																																																																				0.557	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		3	27	0	0	0	1	0	3	27				
CELA3A	10136	broad.mit.edu	37	1	22333432	22333432	+	Missense_Mutation	SNP	G	G	A	rs184229274		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22333432G>A	ENST00000290122.3	+	5	443	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	142	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCAGCTCGCCTCACTCCC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17789	0.001		0.0	False		,,,				2504	0.0					ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(424-426)Gcc>Acc		chymotrypsin-like elastase family, member 3A							121.0	106.0	111.0					1																	22333432		2199	4300	6499	SO:0001583	missense	10136							g.chr1:22333432G>A	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.424G>A	1.37:g.22333432G>A	ENSP00000290122:p.Ala142Thr						p.A142T	NM_005747.4	NP_005738.4					5	443	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.424G>A	CCDS220.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	14.31	2.498595	0.44455	.	.	ENSG00000142789	ENST00000290122;ENST00000374661	D	0.89123	-2.47	3.83	3.83	0.44106	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92267	0.7547	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	D	0.92057	0.5653	9	0.87932	D	0	-50.5371	7.2318	0.26046	0.1199:0.0:0.88:0.0	.	142	P09093	CEL3A_HUMAN	T	142;158	ENSP00000290122:A142T	ENSP00000290122:A142T	A	+	1	0	CELA3A	22206019	1.000000	0.71417	0.068000	0.19968	0.009000	0.06853	7.450000	0.80656	1.958000	0.56883	0.400000	0.26472	GCC		0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		37	8	0	0	0	1	0	37	8				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240601	39240601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240601G>T	ENST00000391417.4	+	1	143	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	48	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTGTGTCCAGCTGCTGCAGG	0.647																																						ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(142-144)aGc>aTc		keratin associated protein 4-7							13.0	22.0	19.0					17																	39240601		685	1587	2272	SO:0001583	missense	100132476							g.chr17:39240601G>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.143G>T	17.37:g.39240601G>T	ENSP00000375236:p.Ser48Ile						p.S48I	NM_033061.3	NP_149050.3					1	143	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.143G>T	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	11.34	1.608414	0.28623	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01838	4.61	3.5	2.48	0.30137	.	9.475330	0.01618	U	0.022867	T	0.03477	0.0100	.	.	.	0.29107	N	0.881084	P	0.44946	0.846	B	0.41666	0.363	T	0.44802	-0.9304	9	0.46703	T	0.11	.	9.7436	0.40433	0.0:0.4125:0.5875:0.0	.	48	Q9BYR0	KRA47_HUMAN	I	48	ENSP00000375236:S48I	ENSP00000375236:S48I	S	+	2	0	KRTAP4-9;KRTAP4-7	36494127	0.994000	0.37717	0.980000	0.43619	0.742000	0.42306	0.495000	0.22483	0.514000	0.28300	0.305000	0.20034	AGC		0.647	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			8	21	1	0	3.86212e-05	1	4.30401e-05	8	21				
CLEC12A	160364	broad.mit.edu	37	12	10133229	10133229	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10133229G>T	ENST00000304361.4	+	4	610	c.428G>T	c.(427-429)aGc>aTc	p.S143I	CLEC12A_ENST00000350667.4_Missense_Mutation_p.S110I|CLEC12A_ENST00000355690.4_Missense_Mutation_p.S153I|CLEC12A_ENST00000434319.2_Missense_Mutation_p.S143I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	143	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATAAGGACAGCTGTTATTTC	0.393																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(427-429)aGc>aTc		C-type lectin domain family 12, member A							165.0	155.0	158.0					12																	10133229		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10133229G>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.428G>T	12.37:g.10133229G>T	ENSP00000302804:p.Ser143Ile					CLEC12A_ENST00000350667.4_Missense_Mutation_p.S110I|CLEC12A_ENST00000434319.2_Missense_Mutation_p.S143I|CLEC12A_ENST00000355690.4_Missense_Mutation_p.S153I	p.S143I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			4	610	+			143			C-type lectin.		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.428G>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738896	0.49045	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667;ENST00000396506	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.4	-5.83	0.02325	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.34861	0.0912	M	0.82056	2.57	0.09310	N	1	D;D;D	0.64830	0.993;0.99;0.994	P;P;P	0.62298	0.867;0.798;0.9	T	0.23691	-1.0181	9	0.72032	D	0.01	.	3.6526	0.08209	0.5284:0.115:0.2504:0.1062	.	110;143;153	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	I	153;143;143;143;110;16	ENSP00000347916:S153I;ENSP00000379764:S143I;ENSP00000302804:S143I;ENSP00000405244:S143I;ENSP00000345448:S110I	ENSP00000302804:S143I	S	+	2	0	CLEC12A	10024496	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.289000	0.02780	-1.145000	0.02858	-0.150000	0.13652	AGC		0.393	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		42	64	1	0	3.77016e-25	1	5.00944e-25	42	64				
SIN3B	23309	broad.mit.edu	37	19	16957837	16957837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16957837G>A	ENST00000248054.5	+	5	660	c.639G>A	c.(637-639)gtG>gtA	p.V213V	SIN3B_ENST00000379803.1_Silent_p.V213V|CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000596802.1_Silent_p.V213V					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAGGAGGTGTTCACCGAGG	0.577																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(637-639)gtG>gtA		SIN3 transcription regulator family member B							94.0	93.0	93.0					19																	16957837		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16957837G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.639G>A	19.37:g.16957837G>A						SIN3B_ENST00000596802.1_Silent_p.V213V|SIN3B_ENST00000248054.5_Silent_p.V213V	p.V213V	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			5	653	+			213			PAH 2.			Silent	SNP	ENST00000248054.5	37	c.639G>A																																																																																					0.577	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		26	33	0	0	0	1	0	26	33				
CYP19A1	1588	broad.mit.edu	37	15	51529161	51529161	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51529161C>A	ENST00000396402.1	-	3	344	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP19A1_ENST00000559878.1_Missense_Mutation_p.R64I|CYP19A1_ENST00000557858.1_Missense_Mutation_p.R64I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.R64I|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R64I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.R64I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	64					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CCACAGGAATCTGCCGTGGGA	0.493																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(190-192)aGa>aTa		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						97.0	91.0	93.0					15																	51529161		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51529161C>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.191G>T	15.37:g.51529161C>A	ENSP00000379683:p.Arg64Ile					CYP19A1_ENST00000260433.2_Missense_Mutation_p.R64I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.R64I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R64I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.R64I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.R64I	p.R64I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	3	344	-			64					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.191G>T	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386378	0.95967	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.80994	-0.58;-0.58;-0.58;1.89;-0.76;-0.74;-1.44	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.984	D	0.93035	0.6452	10	0.87932	D	0	-21.9266	19.6475	0.95784	0.0:1.0:0.0:0.0	.	64;64	Q8IYJ7;P11511	.;CP19A_HUMAN	I	64	ENSP00000379683:R64I;ENSP00000260433:R64I;ENSP00000379685:R64I;ENSP00000390614:R64I;ENSP00000383930:R64I;ENSP00000391139:R64I;ENSP00000384389:R64I	ENSP00000260433:R64I	R	-	2	0	CYP19A1	49316453	0.992000	0.36948	0.868000	0.34077	0.930000	0.56654	7.298000	0.78815	2.885000	0.99019	0.655000	0.94253	AGA		0.493	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			4	75	1	0	0.00024832	1	0.0002712	4	75				
NPBWR2	2832	broad.mit.edu	37	20	62737922	62737922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62737922G>A	ENST00000369768.1	-	1	602	c.263C>T	c.(262-264)gCc>gTc	p.A88V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	88					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCGGCGACGGCCAGGTTCAG	0.612																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(262-264)gCc>gTc		neuropeptides B/W receptor 2							58.0	48.0	51.0					20																	62737922		2199	4300	6499	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737922G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.263C>T	20.37:g.62737922G>A	ENSP00000358783:p.Ala88Val						p.A88V	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	602	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		88					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.263C>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350568	0.61183	.	.	ENSG00000125522	ENST00000369768	T	0.56275	0.47	3.74	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.80031	0.4549	H	0.95079	3.62	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	D	0.87035	0.2137	10	0.87932	D	0	.	15.1139	0.72384	0.0:0.0:1.0:0.0	.	88	P48146	NPBW2_HUMAN	V	88	ENSP00000358783:A88V	ENSP00000358783:A88V	A	-	2	0	NPBWR2	62208366	1.000000	0.71417	0.011000	0.14972	0.021000	0.10359	7.202000	0.77856	1.611000	0.50210	0.484000	0.47621	GCC		0.612	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		8	12	0	0	0	1	0	8	12				
BPTF	2186	broad.mit.edu	37	17	65908009	65908009	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65908009G>T	ENST00000321892.4	+	13	4448	c.4387G>T	c.(4387-4389)Gtt>Ttt	p.V1463F	BPTF_ENST00000335221.5_Missense_Mutation_p.V1463F|BPTF_ENST00000424123.3_Missense_Mutation_p.V1324F|BPTF_ENST00000306378.6_Missense_Mutation_p.V1337F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1463					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGTGAGTTGGTTTCTGGTGA	0.433																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4387-4389)Gtt>Ttt		bromodomain PHD finger transcription factor							69.0	69.0	69.0					17																	65908009		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908009G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4387G>T	17.37:g.65908009G>T	ENSP00000315454:p.Val1463Phe					BPTF_ENST00000335221.5_Missense_Mutation_p.V1463F|BPTF_ENST00000306378.6_Missense_Mutation_p.V1337F|BPTF_ENST00000424123.3_Missense_Mutation_p.V1324F	p.V1463F			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4448	+	all_cancers(12;6e-11)		1463					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4387G>T		.	.	.	.	.	.	.	.	.	.	G	1.581	-0.531515	0.04112	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62941	-0.01;-0.01;-0.01	5.58	2.33	0.28932	.	.	.	.	.	T	0.44138	0.1279	N	0.19112	0.55	0.20307	N	0.999915	P;P	0.49090	0.919;0.919	B;B	0.43052	0.406;0.406	T	0.28870	-1.0030	9	0.52906	T	0.07	-3.5555	4.1589	0.10273	0.2629:0.3528:0.3843:0.0	.	1337;1463	Q12830-2;Q12830-4	.;.	F	1337;1463;1463	ENSP00000307208:V1337F;ENSP00000334351:V1463F;ENSP00000315454:V1463F	ENSP00000307208:V1337F	V	+	1	0	BPTF	63338471	0.060000	0.20803	0.094000	0.20943	0.001000	0.01503	1.794000	0.38774	0.713000	0.32060	-0.894000	0.02916	GTT		0.433	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		18	11	1	0	2.37509e-13	1	3.01126e-13	18	11				
XDH	7498	broad.mit.edu	37	2	31591469	31591469	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591469G>C	ENST00000379416.3	-	19	2086	c.2038C>G	c.(2038-2040)Cag>Gag	p.Q680E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	680					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCAGCTCTCTGTGTGTGTTCC	0.488																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2038-2040)Cag>Gag		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						124.0	113.0	116.0					2																	31591469		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31591469G>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2038C>G	2.37:g.31591469G>C	ENSP00000368727:p.Gln680Glu						p.Q680E	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			19	2086	-	Acute lymphoblastic leukemia(172;0.155)		680					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2038C>G	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595264	0.46318	.	.	ENSG00000158125	ENST00000379416	T	0.15256	2.44	6.17	5.29	0.74685	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.156336	0.64402	N	0.000016	T	0.12774	0.0310	N	0.17474	0.49	0.58432	D	0.999992	B	0.12630	0.006	B	0.22601	0.04	T	0.05435	-1.0885	10	0.54805	T	0.06	.	13.0925	0.59174	0.0:0.1232:0.7489:0.128	.	680	P47989	XDH_HUMAN	E	680	ENSP00000368727:Q680E	ENSP00000368727:Q680E	Q	-	1	0	XDH	31444973	1.000000	0.71417	0.946000	0.38457	0.543000	0.35085	5.234000	0.65343	1.612000	0.50221	0.655000	0.94253	CAG		0.488	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		30	52	0	0	0	1	0	30	52				
PAK1	5058	broad.mit.edu	37	11	77090938	77090938	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77090938C>T	ENST00000356341.3	-	3	823		c.e3+1		PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000530617.1_Splice_Site|PAK1_ENST00000278568.4_Splice_Site	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCAGGACTTACCGTAAACTCC	0.423																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.e3+1		p21 protein (Cdc42/Rac)-activated kinase 1							114.0	106.0	109.0					11																	77090938		2200	4292	6492	SO:0001630	splice_region_variant	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77090938C>T	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.291+1G>A	11.37:g.77090938C>T						PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000530617.1_Splice_Site		NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			3	823	-	all_cancers(14;1.75e-18)							O75561|Q13567|Q32M53|Q32M54|Q86W79	Splice_Site	SNP	ENST00000356341.3	37		CCDS8250.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380714	0.82792	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3621	0.94445	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAK1	76768586	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.445000	0.80570	2.648000	0.89879	0.563000	0.77884	.		0.423	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	Intron	21	53	0	0	0	1	0	21	53				
SLC6A17	388662	broad.mit.edu	37	1	110717534	110717534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110717534G>A	ENST00000331565.4	+	5	1190	c.705G>A	c.(703-705)tgG>tgA	p.W235*	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.2_ENST00000440688.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	235					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCGTGGCCTGGAGCATCGTGG	0.602																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(703-705)tgG>tgA		solute carrier family 6 (neutral amino acid transporter), member 17							82.0	76.0	78.0					1																	110717534		2203	4300	6503	SO:0001587	stop_gained	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110717534G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.705G>A	1.37:g.110717534G>A	ENSP00000330199:p.Trp235*						p.W235*	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	5	1190	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	235					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Nonsense_Mutation	SNP	ENST00000331565.4	37	c.705G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	43	9.913445	0.99294	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2447	0.93898	0.0:0.0:1.0:0.0	.	.	.	.	X	235	.	ENSP00000330199:W235X	W	+	3	0	SLC6A17	110519057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.614000	0.88457	0.655000	0.94253	TGG		0.602	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		21	30	0	0	0	1	0	21	30				
MLYCD	23417	broad.mit.edu	37	16	83948758	83948758	+	Silent	SNP	C	C	T	rs373273203		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948758C>T	ENST00000262430.4	+	5	1165	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	382	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCAGCAGCAGCGAGTGGGTGC	0.582																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1144-1146)agC>agT		malonyl-CoA decarboxylase		C		1,4109		0,1,2054	81.0	90.0	87.0		1146	0.6	0.6	16		87	1,8419		0,1,4209	no	coding-synonymous	MLYCD	NM_012213.2		0,2,6263	TT,TC,CC		0.0119,0.0243,0.016		382/494	83948758	2,12528	2055	4210	6265	SO:0001819	synonymous_variant	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948758C>T	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1146C>T	16.37:g.83948758C>T						RP11-505K9.4_ENST00000561562.1_RNA	p.S382S	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			5	1165	+			382					Q9UNU5|Q9Y3F2	Silent	SNP	ENST00000262430.4	37	c.1146C>T	CCDS42206.1																																																																																				0.582	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		54	75	0	0	0	1	0	54	75				
SLC22A13	9390	broad.mit.edu	37	3	38307385	38307385	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38307385G>T	ENST00000311856.4	+	1	83	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	SLC22A13_ENST00000450935.2_5'Flank	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	12					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCTGAAATAGGTGACTTTGG	0.502																																						ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(34-36)Ggt>Tgt		solute carrier family 22 (organic anion/urate transporter), member 13							177.0	147.0	158.0					3																	38307385		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307385G>T	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.34G>T	3.37:g.38307385G>T	ENSP00000310241:p.Gly12Cys						p.G12C	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	83	+			12					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.34G>T	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.172192	0.78452	.	.	ENSG00000172940	ENST00000311856	T	0.73897	-0.79	4.71	4.71	0.59529	Major facilitator superfamily domain, general substrate transporter (1);	0.054378	0.64402	D	0.000001	D	0.89354	0.6691	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92160	0.5735	10	0.87932	D	0	.	17.0404	0.86488	0.0:0.0:1.0:0.0	.	12;12	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	C	12	ENSP00000310241:G12C	ENSP00000310241:G12C	G	+	1	0	SLC22A13	38282389	1.000000	0.71417	0.141000	0.22245	0.890000	0.51754	8.005000	0.88553	2.351000	0.79841	0.563000	0.77884	GGT		0.502	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		8	49	1	0	1.06961e-07	1	1.26574e-07	8	49				
SLC20A2	6575	broad.mit.edu	37	8	42320605	42320605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42320605G>A	ENST00000342228.3	-	4	803	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A145V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A145V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	145					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACCAAGAAGCAACTGAATA	0.308																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(433-435)gCt>gTt		solute carrier family 20 (phosphate transporter), member 2							43.0	46.0	45.0					8																	42320605		2202	4300	6502	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42320605G>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.434C>T	8.37:g.42320605G>A	ENSP00000340465:p.Ala145Val					SLC20A2_ENST00000520262.1_Missense_Mutation_p.A145V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A145V	p.A145V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	803	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	145						Missense_Mutation	SNP	ENST00000342228.3	37	c.434C>T	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489393	0.84962	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90504	-2.68;-2.68;-2.68	5.78	5.78	0.91487	.	0.099067	0.64402	D	0.000002	D	0.89444	0.6717	L	0.53671	1.685	0.80722	D	1	B	0.24043	0.096	B	0.31442	0.13	D	0.85099	0.0956	10	0.27082	T	0.32	-20.7193	17.4973	0.87722	0.0:0.0:1.0:0.0	.	145	Q08357	S20A2_HUMAN	V	145	ENSP00000340465:A145V;ENSP00000429754:A145V;ENSP00000429712:A145V	ENSP00000340465:A145V	A	-	2	0	SLC20A2	42439762	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.907000	0.87430	2.734000	0.93682	0.655000	0.94253	GCT		0.308	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			10	18	0	0	0	1	0	10	18				
MLLT3	4300	broad.mit.edu	37	9	20413895	20413895	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20413895T>G	ENST00000380338.4	-	5	1235	c.949A>C	c.(949-951)Ata>Cta	p.I317L	MLLT3_ENST00000429426.2_Missense_Mutation_p.I314L|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	317					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CAAGTGAGTATCAGTGGTGGT	0.378			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(949-951)Ata>Cta		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							125.0	126.0	125.0					9																	20413895		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413895T>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.949A>C	9.37:g.20413895T>G	ENSP00000369695:p.Ile317Leu					MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.I314L	p.I317L	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	1235	-			317					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.949A>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	9.106	1.005398	0.19199	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.86	4.73	0.59995	.	0.283318	0.39020	N	0.001490	T	0.42200	0.1192	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22138	-1.0225	9	0.41790	T	0.15	-10.566	10.4481	0.44505	0.0:0.1348:0.0:0.8652	.	314;317	B7Z755;P42568	.;AF9_HUMAN	L	317;314;356	.	ENSP00000369695:I317L	I	-	1	0	MLLT3	20403895	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.436000	0.52856	1.054000	0.40438	-0.250000	0.11733	ATA		0.378	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	63	0	0	0	1	0	4	63				
SCARA3	51435	broad.mit.edu	37	8	27516827	27516827	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27516827C>T	ENST00000301904.3	+	5	1160	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	SCARA3_ENST00000337221.4_Silent_p.D380D	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	380					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTGGATGACGTGCGGCTCT	0.557																																						ENST00000301904.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9						c.(1138-1140)gaC>gaT		scavenger receptor class A, member 3							150.0	113.0	126.0					8																	27516827		2203	4300	6503	SO:0001819	synonymous_variant	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516827C>T	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1140C>T	8.37:g.27516827C>T						SCARA3_ENST00000337221.4_Silent_p.D380D	p.D380D	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	1160	+		Ovarian(32;2.61e-05)	380					Q9UM15|Q9UM16	Silent	SNP	ENST00000301904.3	37	c.1140C>T	CCDS34871.1																																																																																				0.557	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		22	24	0	0	0	1	0	22	24				
FAM13B	51306	broad.mit.edu	37	5	137295347	137295347	+	Missense_Mutation	SNP	G	G	A	rs575496727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137295347G>A	ENST00000033079.3	-	13	1850	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	FAM13B_ENST00000420893.2_Missense_Mutation_p.H467Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.H349Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	467					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AGATCTAAATGTGGAATACTG	0.398																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1399-1401)Cat>Tat		family with sequence similarity 13, member B							122.0	102.0	109.0					5																	137295347		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137295347G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1399C>T	5.37:g.137295347G>A	ENSP00000033079:p.His467Tyr					FAM13B_ENST00000420893.2_Missense_Mutation_p.H467Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.H349Y	p.H467Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			13	1850	-			467					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1399C>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864836	0.51482	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95518	-3.73;1.87;-3.73	5.65	5.65	0.86999	.	0.361157	0.30859	N	0.008728	D	0.93546	0.7940	L	0.38531	1.155	0.42422	D	0.99264	B;B;B	0.25105	0.018;0.118;0.005	B;B;B	0.30401	0.007;0.115;0.002	D	0.90582	0.4530	10	0.49607	T	0.09	-0.4997	19.7276	0.96170	0.0:0.0:1.0:0.0	.	349;467;467	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	Y	467;349;467	ENSP00000033079:H467Y;ENSP00000394669:H349Y;ENSP00000388521:H467Y	ENSP00000033079:H467Y	H	-	1	0	FAM13B	137323246	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.752000	0.74898	2.663000	0.90544	0.561000	0.74099	CAT		0.398	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			5	43	0	0	0	1	0	5	43				
PPIL6	285755	broad.mit.edu	37	6	109748356	109748356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109748356C>A	ENST00000521072.2	-	4	1004	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	PPIL6_ENST00000440797.2_Missense_Mutation_p.D142Y|PPIL6_ENST00000424445.2_Missense_Mutation_p.D110Y|PPIL6_ENST00000524031.1_5'UTR	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	142					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AACACGAAATCATGCTGTGAA	0.318																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(424-426)Gat>Tat		peptidylprolyl isomerase (cyclophilin)-like 6							81.0	74.0	76.0					6																	109748356		2203	4298	6501	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109748356C>A		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.424G>T	6.37:g.109748356C>A	ENSP00000427929:p.Asp142Tyr					PPIL6_ENST00000424445.2_Missense_Mutation_p.D110Y|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000440797.2_Missense_Mutation_p.D142Y	p.D142Y	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	4	1004	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	142					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.424G>T	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.648|6.648	0.488015|0.488015	0.12641|0.12641	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	4.88|4.88	-3.15|-3.15	0.05233|0.05233	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);|.	1.197050|.	0.05875|.	N|.	0.625345|.	T|.	0.18299|.	0.0439|.	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	B;B;B|.	0.32010|.	0.351;0.351;0.351|.	B;B;B|.	0.32805|.	0.153;0.153;0.153|.	T|.	0.34650|.	-0.9820|.	10|.	0.72032|.	D|.	0.01|.	-2.6855|-2.6855	3.0509|3.0509	0.06168|0.06168	0.1074:0.3659:0.1055:0.4211|0.1074:0.3659:0.1055:0.4211	.|.	142;110;142|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	Y|L	110;142;142;99|81	ENSP00000407731:D110Y;ENSP00000392257:D142Y;ENSP00000427929:D142Y;ENSP00000411731:D99Y|.	ENSP00000411731:D99Y|.	D|X	-|-	1|2	0|2	PPIL6|PPIL6	109855049|109855049	0.000000|0.000000	0.05858|0.05858	0.738000|0.738000	0.30950|0.30950	0.203000|0.203000	0.24098|0.24098	-0.423000|-0.423000	0.07034|0.07034	-0.564000|-0.564000	0.06070|0.06070	-0.137000|-0.137000	0.14449|0.14449	GAT|TGA		0.318	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			9	33	1	0	0.361761	1	0.363227	9	33				
WDR3	10885	broad.mit.edu	37	1	118488742	118488742	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118488742T>C	ENST00000349139.5	+	12	1409	c.1362T>C	c.(1360-1362)tgT>tgC	p.C454C		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	454						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAATGACCTGTGAATATGCAC	0.383																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1360-1362)tgT>tgC		WD repeat domain 3							153.0	147.0	149.0					1																	118488742		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118488742T>C	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1362T>C	1.37:g.118488742T>C							p.C454C	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	12	1409	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	454						Silent	SNP	ENST00000349139.5	37	c.1362T>C	CCDS898.1																																																																																				0.383	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		38	59	0	0	0	1	0	38	59				
RAB11FIP2	22841	broad.mit.edu	37	10	119799881	119799881	+	Silent	SNP	C	C	T	rs146793744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119799881C>T	ENST00000355624.3	-	2	988	c.549G>A	c.(547-549)acG>acA	p.T183T	RAB11FIP2_ENST00000369199.3_Silent_p.T183T|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	183					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGCAGAAGACGTATCAGAAA	0.353																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(547-549)acG>acA		RAB11 family interacting protein 2 (class I)							171.0	169.0	170.0					10																	119799881		2203	4299	6502	SO:0001819	synonymous_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799881C>T	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.549G>A	10.37:g.119799881C>T						RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T183T	p.T183T	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	988	-		Colorectal(252;0.235)	183					A6NEI4|Q3I768|Q9Y2F0	Silent	SNP	ENST00000355624.3	37	c.549G>A	CCDS7602.1																																																																																				0.353	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		47	65	0	0	0	1	0	47	65				
FMO1	2326	broad.mit.edu	37	1	171251411	171251411	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251411C>T	ENST00000354841.4	+	6	1253	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.P374P|FMO1_ENST00000402921.2_Silent_p.P311P	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	374					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TCATCAAACCCTTGGGCTCCA	0.478																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(1120-1122)ccC>ccT		flavin containing monooxygenase 1							90.0	86.0	88.0					1																	171251411		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251411C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1122C>T	1.37:g.171251411C>T						FMO1_ENST00000402921.2_Silent_p.P311P|FMO1_ENST00000367750.3_Silent_p.P374P|FMO1_ENST00000469112.1_3'UTR	p.P374P			Q01740	FMO1_HUMAN			6	1253	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		374					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.1122C>T	CCDS1294.1																																																																																				0.478	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		26	45	0	0	0	1	0	26	45				
REST	5978	broad.mit.edu	37	4	57797968	57797968	+	Missense_Mutation	SNP	C	C	T	rs200147565		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797968C>T	ENST00000309042.7	+	4	3258	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	982					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGTAGAAGAACGTGAAGCAGT	0.448																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2944-2946)Cgt>Tgt		RE1-silencing transcription factor		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	76.0	77.0		2944,2944	-3.8	0.0	4		77	0,8600		0,0,4300	no	missense,missense	REST	NM_005612.4,NM_001193508.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	982/1098,982/1098	57797968	1,13005	2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797968C>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2944C>T	4.37:g.57797968C>T	ENSP00000311816:p.Arg982Cys						p.R982C	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	3258	+	Glioma(25;0.08)|all_neural(26;0.181)		982					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2944C>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769869	0.31320	2.27E-4	0.0	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08458	3.09	6.17	-3.83	0.04269	.	2.433770	0.01279	N	0.009676	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36696	-0.9737	10	0.45353	T	0.12	3.3545	2.121	0.03725	0.1244:0.1511:0.3587:0.3658	.	959;982	F8WAN5;Q13127	.;REST_HUMAN	C	982;959	ENSP00000311816:R982C	ENSP00000311816:R982C	R	+	1	0	REST	57492725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.431000	0.06965	-0.624000	0.05611	-1.268000	0.01426	CGT		0.448	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		15	23	0	0	0	1	0	15	23				
LSR	51599	broad.mit.edu	37	19	35741347	35741347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35741347A>G	ENST00000361790.3	+	2	542	c.383A>G	c.(382-384)tAc>tGc	p.Y128C	LSR_ENST00000360798.3_Missense_Mutation_p.Y128C|LSR_ENST00000597933.1_3'UTR|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000427250.1_Missense_Mutation_p.Y80C|LSR_ENST00000354900.3_Missense_Mutation_p.Y128C|LSR_ENST00000602122.1_Missense_Mutation_p.Y128C|LSR_ENST00000347609.4_Missense_Mutation_p.Y91C	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	128	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCTGGAAGTACAAGTCTTTC	0.617																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(382-384)tAc>tGc		lipolysis stimulated lipoprotein receptor							211.0	176.0	188.0					19																	35741347		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35741347A>G	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.383A>G	19.37:g.35741347A>G	ENSP00000354575:p.Tyr128Cys					LSR_ENST00000360798.3_Missense_Mutation_p.Y128C|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000354900.3_Missense_Mutation_p.Y128C|LSR_ENST00000347609.4_Missense_Mutation_p.Y91C|LSR_ENST00000361790.3_Missense_Mutation_p.Y128C|LSR_ENST00000427250.1_Missense_Mutation_p.Y80C	p.Y128C			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	870	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		128			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.383A>G	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779500	0.70107	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.74526	4.76;4.76;4.76;4.76;-0.85	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.065485	0.64402	D	0.000006	T	0.80623	0.4658	L	0.43152	1.355	0.31366	N	0.680719	P;P;P;P;P;D	0.89917	0.823;0.933;0.926;0.909;0.879;1.0	P;P;P;P;P;D	0.81914	0.659;0.715;0.816;0.578;0.659;0.995	T	0.82055	-0.0647	10	0.87932	D	0	-26.0024	12.4931	0.55912	1.0:0.0:0.0:0.0	.	85;91;128;128;128;128	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	C	128;128;128;91;80	ENSP00000354575:Y128C;ENSP00000346976:Y128C;ENSP00000354034:Y128C;ENSP00000262627:Y91C;ENSP00000394479:Y80C	ENSP00000262627:Y91C	Y	+	2	0	LSR	40433187	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.899000	0.75682	2.061000	0.61500	0.533000	0.62120	TAC		0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		65	90	0	0	0	1	0	65	90				
LECT1	11061	broad.mit.edu	37	13	53282703	53282703	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53282703A>C	ENST00000377962.3	-	6	835	c.757T>G	c.(757-759)Tca>Gca	p.S253A	LECT1_ENST00000448904.2_Missense_Mutation_p.S253A			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	253					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AAGGCTTGTGAGTCCTCTTGA	0.468																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(757-759)Tca>Gca		leukocyte cell derived chemotaxin 1							221.0	186.0	198.0					13																	53282703		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282703A>C	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.757T>G	13.37:g.53282703A>C	ENSP00000367198:p.Ser253Ala					LECT1_ENST00000377962.3_Missense_Mutation_p.S253A	p.S253A	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	867	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	253					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.757T>G	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	A	0.101	-1.152724	0.01700	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.29655	1.56;1.57	5.06	0.718	0.18202	.	0.707287	0.14273	N	0.330037	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34800	-0.9814	10	0.07482	T	0.82	.	6.0573	0.19819	0.2834:0.4819:0.0:0.2347	.	253;253	O75829-2;O75829	.;LECT1_HUMAN	A	253	ENSP00000388576:S253A;ENSP00000367198:S253A	ENSP00000367198:S253A	S	-	1	0	LECT1	52180704	0.000000	0.05858	0.009000	0.14445	0.306000	0.27790	0.318000	0.19504	0.389000	0.25086	0.454000	0.30748	TCA		0.468	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			18	42	0	0	0	1	0	18	42				
COX18	285521	broad.mit.edu	37	4	73931073	73931073	+	Silent	SNP	G	G	A	rs376353250		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73931073G>A	ENST00000295890.4	-	3	583	c.492C>T	c.(490-492)aaC>aaT	p.N164N	COX18_ENST00000507544.2_Silent_p.N164N	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	164					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGGGTGGCAGTTATCTCGCA	0.438																																						ENST00000295890.4																			0				large_intestine(4)|lung(2)	6						c.(490-492)aaC>aaT		COX18 cytochrome C oxidase assembly factor		G		0,4406		0,0,2203	127.0	120.0	122.0		492	2.9	1.0	4		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COX18	NM_173827.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		164/334	73931073	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285521				protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity	g.chr4:73931073G>A	AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.492C>T	4.37:g.73931073G>A						COX18_ENST00000507544.2_Silent_p.N164N	p.N164N	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	583	-	Breast(15;0.00096)		164					Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Silent	SNP	ENST00000295890.4	37	c.492C>T	CCDS3554.1																																																																																				0.438	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827		28	57	0	0	0	1	0	28	57				
NCAN	1463	broad.mit.edu	37	19	19330052	19330052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19330052C>A	ENST00000252575.6	+	3	501	c.402C>A	c.(400-402)gaC>gaA	p.D134E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	134	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGGCCAGTGACTCTGGGCTGT	0.662																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(400-402)gaC>gaA		neurocan							32.0	27.0	29.0					19																	19330052		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19330052C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.402C>A	19.37:g.19330052C>A	ENSP00000252575:p.Asp134Glu						p.D134E	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	445	+			134			Ig-like V-type.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.402C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875445	0.33162	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.87729	-2.29	4.59	2.02	0.26589	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000711	D	0.92786	0.7706	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92507	0.6013	10	0.87932	D	0	.	12.2863	0.54793	0.0:0.808:0.0:0.192	.	134	O14594	NCAN_HUMAN	E	148;134	ENSP00000252575:D134E	ENSP00000252575:D134E	D	+	3	2	NCAN	19191052	1.000000	0.71417	0.995000	0.50966	0.041000	0.13682	1.927000	0.40094	0.393000	0.25203	-1.579000	0.00862	GAC		0.662	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		5	9	1	0	0.184627	1	0.186383	5	9				
OBSL1	23363	broad.mit.edu	37	2	220422967	220422967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220422967G>A	ENST00000404537.1	-	10	3497	c.3441C>T	c.(3439-3441)gaC>gaT	p.D1147D	OBSL1_ENST00000373876.1_Silent_p.D1147D|OBSL1_ENST00000603926.1_Silent_p.D1147D|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000265317.5_Silent_p.D138D|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1147	Ig-like 9.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTCCCCGGCGTCCTCAGGCT	0.672																																						ENST00000404537.1																			0											c.(3439-3441)gaC>gaT		obscurin-like 1							29.0	34.0	33.0					2																	220422967		2067	4187	6254	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422967G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3441C>T	2.37:g.220422967G>A						OBSL1_ENST00000265317.5_Silent_p.D138D|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000603926.1_Silent_p.D1147D|OBSL1_ENST00000373876.1_Silent_p.D1147D	p.D1147D	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	10	3497	-		Renal(207;0.0376)	1147			Ig-like 9.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.3441C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	1.619	-0.522019	0.04171	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.47	-4.23	0.03789	.	.	.	.	.	T	0.65196	0.2668	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64071	-0.6493	4	.	.	.	.	15.7501	0.77976	0.8089:0.0:0.1911:0.0	.	.	.	.	M	141	.	.	T	-	2	0	OBSL1	220131211	0.000000	0.05858	0.917000	0.36280	0.376000	0.30014	-1.029000	0.03585	-1.157000	0.02815	-0.657000	0.03884	ACG		0.672	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			7	7	0	0	0	1	0	7	7				
ITIH1	3697	broad.mit.edu	37	3	52812378	52812378	+	Missense_Mutation	SNP	G	G	A	rs150656991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52812378G>A	ENST00000273283.2	+	3	185	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	ITIH1_ENST00000540715.1_5'Flank|ITIH1_ENST00000542827.1_Missense_Mutation_p.R54Q|ITIH1_ENST00000537050.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	54	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.			R -> A (in Ref. 8; AA sequence). {ECO:0000305}.	hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGTTCATCCGGAGTTTGAAA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		21699	0.0		0.001	False		,,,				2504	0.0					ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(160-162)cGg>cAg		inter-alpha-trypsin inhibitor heavy chain 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	129.0	132.0		161	0.5	1.0	3	dbSNP_134	132	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ITIH1	NM_002215.2	43	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	54/912	52812378	5,13001	2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52812378G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.161G>A	3.37:g.52812378G>A	ENSP00000273283:p.Arg54Gln					ITIH1_ENST00000542827.1_Missense_Mutation_p.R54Q	p.R54Q	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	3	185	+			54	R -> A (in Ref. 7; AA sequence).		VIT.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.161G>A	CCDS2864.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.91	2.676455	0.47886	2.27E-4	4.65E-4	ENSG00000055957	ENST00000542827;ENST00000273283	T;T	0.21031	2.03;2.03	5.65	0.52	0.17040	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.361832	0.32002	N	0.006735	T	0.13628	0.0330	L	0.29908	0.895	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.09079	-1.0691	10	0.41790	T	0.15	-16.211	9.4863	0.38931	0.4859:0.0:0.5141:0.0	.	54	P19827	ITIH1_HUMAN	Q	54	ENSP00000442584:R54Q;ENSP00000273283:R54Q	ENSP00000273283:R54Q	R	+	2	0	ITIH1	52787418	0.401000	0.25303	0.997000	0.53966	0.974000	0.67602	0.143000	0.16115	0.176000	0.19873	0.655000	0.94253	CGG		0.552	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		23	44	0	0	0	1	0	23	44				
CCDC180	100499483	broad.mit.edu	37	9	100085191	100085191	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100085191G>A	ENST00000357054.1	+	26	2720	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.V555V|CCDC180_ENST00000411667.2_Silent_p.V453V|CCDC180_ENST00000529487.1_Silent_p.V456V|CCDC180_ENST00000375202.2_Silent_p.V456V|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	595						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGATGCATGTGCAGAATTGTA	0.567																																						ENST00000375202.2																			0											c.(1366-1368)gtG>gtA		coiled-coil domain containing 180							94.0	70.0	78.0					9																	100085191		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100085191G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1785G>A	9.37:g.100085191G>A						CCDC180_ENST00000411667.2_Silent_p.V453V|CCDC180_ENST00000395220.1_Silent_p.V555V|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.V456V|CCDC180_ENST00000357054.1_Silent_p.V595V|CCDC180_ENST00000460482.2_3'UTR	p.V456V							26	2720	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.1368G>A																																																																																					0.567	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		16	19	0	0	0	1	0	16	19				
TRIOBP	11078	broad.mit.edu	37	22	38120281	38120281	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38120281A>G	ENST00000406386.3	+	7	1973	c.1718A>G	c.(1717-1719)gAc>gGc	p.D573G		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCACACGAGACAACCCCAGA	0.587																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1717-1719)gAc>gGc		TRIO and F-actin binding protein							54.0	88.0	78.0					22																	38120281		1882	4128	6010	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120281A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1718A>G	22.37:g.38120281A>G	ENSP00000384312:p.Asp573Gly					RP1-37E16.12_ENST00000455236.1_RNA	p.D573G	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1973	+	Melanoma(58;0.0574)		573					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1718A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	9.578	1.122902	0.20959	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	2.33	1.25	0.21368	.	.	.	.	.	T	0.16727	0.0402	L	0.50333	1.59	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.26849	-1.0091	9	0.37606	T	0.19	.	4.149	0.10228	0.8149:0.0:0.1851:0.0	.	573	Q9H2D6	TARA_HUMAN	G	573	ENSP00000384312:D573G	ENSP00000384312:D573G	D	+	2	0	TRIOBP	36450227	0.008000	0.16893	0.001000	0.08648	0.076000	0.17211	-1.011000	0.03652	0.153000	0.19213	0.156000	0.16432	GAC		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			12	74	0	0	0	1	0	12	74				
TNS3	64759	broad.mit.edu	37	7	47342575	47342575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47342575C>T	ENST00000398879.1	-	22	3796	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	TNS3_ENST00000355730.3_Missense_Mutation_p.A904T|TNS3_ENST00000311160.9_Missense_Mutation_p.A1144T			Q68CZ2	TENS3_HUMAN	tensin 3	1144					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTTCTGAAGCCTTGGAAAAG	0.587																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3430-3432)Gct>Act		tensin 3							80.0	87.0	85.0					7																	47342575		1964	4150	6114	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47342575C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3430G>A	7.37:g.47342575C>T	ENSP00000381854:p.Ala1144Thr					TNS3_ENST00000355730.3_Missense_Mutation_p.A904T|TNS3_ENST00000311160.9_Missense_Mutation_p.A1144T	p.A1144T			Q68CZ2	TENS3_HUMAN			22	3796	-			1144					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3430G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	4.288	0.052719	0.08291	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93604	-2.83;-2.83;-3.25;-2.9	5.56	-1.65	0.08291	.	0.967254	0.08578	N	0.924974	T	0.81273	0.4788	N	0.12182	0.205	0.09310	N	0.999998	B	0.14012	0.009	B	0.08055	0.003	T	0.66732	-0.5849	10	0.11794	T	0.64	-0.9348	2.8161	0.05456	0.0978:0.3786:0.304:0.2196	.	1144	Q68CZ2	TENS3_HUMAN	T	1144;1254;1144;904;600;1247	ENSP00000312143:A1144T;ENSP00000381854:A1144T;ENSP00000347968:A904T;ENSP00000414358:A1247T	ENSP00000312143:A1144T	A	-	1	0	TNS3	47309100	0.787000	0.28750	0.030000	0.17652	0.021000	0.10359	-0.078000	0.11375	-0.696000	0.05098	-0.678000	0.03780	GCT		0.587	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		34	110	0	0	0	1	0	34	110				
PRPF4	9128	broad.mit.edu	37	9	116050475	116050475	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116050475T>C	ENST00000374198.4	+	10	1058	c.956T>C	c.(955-957)aTt>aCt	p.I319T	PRPF4_ENST00000374199.4_Missense_Mutation_p.I318T	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	319					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTGGCAGATATTGAAGGCCAT	0.433																																						ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(952-954)aTt>aCt		pre-mRNA processing factor 4							133.0	109.0	117.0					9																	116050475		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116050475T>C	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.956T>C	9.37:g.116050475T>C	ENSP00000363313:p.Ile319Thr					PRPF4_ENST00000374198.4_Missense_Mutation_p.I319T	p.I318T			O43172	PRP4_HUMAN			10	1354	+			319					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.953T>C	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369217	0.82463	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.60171	0.21;0.21	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	L	0.48174	1.505	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.64687	0.928;0.928	T	0.71224	-0.4656	10	0.87932	D	0	.	14.0183	0.64539	0.0:0.0:0.0:1.0	.	334;319	Q59EL4;O43172	.;PRP4_HUMAN	T	318;319	ENSP00000363315:I318T;ENSP00000363313:I319T	ENSP00000363313:I319T	I	+	2	0	PRPF4	115090296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.516000	0.81772	2.247000	0.74100	0.482000	0.46254	ATT		0.433	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		11	24	0	0	0	1	0	11	24				
OR52A5	390054	broad.mit.edu	37	11	5153502	5153502	+	Missense_Mutation	SNP	C	C	T	rs371563426		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5153502C>T	ENST00000307388.1	-	1	370	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	124					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCCACATAGCGATCCAGGGC	0.468																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(370-372)cGc>cAc		olfactory receptor, family 52, subfamily A, member 5		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	70.0	60.0	63.0		371	5.2	1.0	11		63	0,8596		0,0,4298	no	missense	OR52A5	NM_001005160.2	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	124/317	5153502	1,12997	2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153502C>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.371G>A	11.37:g.5153502C>T	ENSP00000303469:p.Arg124His						p.R124H	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	370	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	124						Missense_Mutation	SNP	ENST00000307388.1	37	c.371G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491721	0.84962	2.27E-4	0.0	ENSG00000171944	ENST00000307388	T	0.77489	-1.1	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000263	D	0.89605	0.6763	M	0.90198	3.095	0.51233	D	0.999919	D	0.89917	1.0	D	0.65140	0.932	D	0.91264	0.5039	10	0.66056	D	0.02	.	17.5151	0.87771	0.0:1.0:0.0:0.0	.	124	Q9H2C5	O52A5_HUMAN	H	124	ENSP00000303469:R124H	ENSP00000303469:R124H	R	-	2	0	OR52A5	5110078	0.885000	0.30320	1.000000	0.80357	0.659000	0.38960	5.538000	0.67193	2.707000	0.92482	0.655000	0.94253	CGC		0.468	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		15	21	0	0	0	1	0	15	21				
IGKV3-20	28912	broad.mit.edu	37	2	89442605	89442605	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89442605T>C	ENST00000492167.1	-	0	38									immunoglobulin kappa variable 3-20																		TCCCTCTGGGTCCTAACTGAG	0.587																																						ENST00000492167.1																			0																				94.0	92.0	93.0					2																	89442605		1882	4092	5974			0							g.chr2:89442605T>C	X12686		2p11.2	2012-02-08			ENSG00000239951	ENSG00000239951		"""Immunoglobulins / IGK locus"""	5817	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151639		2.37:g.89442605T>C														0	38	-									RNA	SNP	ENST00000492167.1	37																																																																																						0.587	IGKV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323388.1	NG_000834		28	49	0	0	0	1	0	28	49				
KRT85	3891	broad.mit.edu	37	12	52758805	52758805	+	Silent	SNP	G	G	A	rs138930362		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52758805G>A	ENST00000257901.3	-	2	645	c.570C>T	c.(568-570)agC>agT	p.S190S	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	190	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCCTCCCGCTGTCGGCCT	0.622																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(568-570)agC>agT		keratin 85		G		0,4406		0,0,2203	83.0	89.0	87.0		570	-4.9	0.1	12	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT85	NM_002283.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		190/508	52758805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758805G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.570C>T	12.37:g.52758805G>A							p.S190S	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	645	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		190			Coil 1B.|Rod.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.570C>T	CCDS8824.1																																																																																				0.622	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		42	58	0	0	0	1	0	42	58				
TBC1D8B	54885	broad.mit.edu	37	X	106108807	106108807	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106108807G>T	ENST00000357242.5	+	15	2545	c.2371G>T	c.(2371-2373)Gat>Tat	p.D791Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D785Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	791							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTATCACAAGATGTGAAATT	0.289																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2371-2373)Gat>Tat		TBC1 domain family, member 8B (with GRAM domain)							93.0	85.0	87.0					X																	106108807		2201	4291	6492	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106108807G>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2371G>T	X.37:g.106108807G>T	ENSP00000349781:p.Asp791Tyr					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D785Y	p.D791Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			15	2545	+			791					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2371G>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.57|18.57	3.652424|3.652424	0.67472|0.67472	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972|ENST00000431860	T;T|.	0.55413|.	0.52;0.52|.	5.49|5.49	5.49|5.49	0.81192|0.81192	EF-hand-like domain (1);|.	0.111909|.	0.64402|.	D|.	0.000012|.	T|T	0.77805|0.77805	0.4185|0.4185	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.66351|.	0.943|.	T|T	0.79112|0.79112	-0.1937|-0.1937	10|5	0.87932|.	D|.	0|.	-20.987|-20.987	16.8041|16.8041	0.85621|0.85621	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	791|.	Q0IIM8|.	TBC8B_HUMAN|.	Y|I	791;785;53|53	ENSP00000349781:D791Y;ENSP00000276175:D785Y|.	ENSP00000276175:D785Y|.	D|R	+|+	1|2	0|0	TBC1D8B|TBC1D8B	105995463|105995463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.992000|6.992000	0.76238|0.76238	2.279000|2.279000	0.76181|0.76181	0.506000|0.506000	0.49869|0.49869	GAT|AGA		0.289	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		25	46	1	0	5.09552e-08	1	6.05645e-08	25	46				
ATF4P4	100127952	broad.mit.edu	37	11	113660051	113660051	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113660051C>T	ENST00000393544.2	+	0	99									activating transcription factor 4 pseudogene 4																		GTGAGAAGGTCGGAGGGGCTG	0.602																																						ENST00000393544.2																			0																																																			0							g.chr11:113660051C>T			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113660051C>T														0	99	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.602	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		16	38	0	0	0	1	0	16	38				
IPO4	79711	broad.mit.edu	37	14	24649283	24649283	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24649283G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000559939.1_3'UTR|REC8_ENST00000311457.3_Silent_p.P541P|REC8_ENST00000559919.1_Silent_p.P541P	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGATCCAGCCGGGGCCCAGAT	0.557																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1621-1623)ccG>ccA		REC8 meiotic recombination protein							97.0	110.0	106.0					14																	24649283		1937	4139	6076	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24649283G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24649283G>A						REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Silent_p.P541P	p.P541P			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	20	2222	+			542					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.1623G>A	CCDS9616.1																																																																																				0.557	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		26	49	0	0	0	1	0	26	49				
OR5H15	403274	broad.mit.edu	37	3	97888395	97888395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888395G>A	ENST00000356526.2	+	1	852	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCATTCCTTTGTTAAATCCTA	0.363																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(850-852)ttG>ttA		olfactory receptor, family 5, subfamily H, member 15							66.0	71.0	69.0					3																	97888395		2202	4299	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888395G>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.852G>A	3.37:g.97888395G>A							p.L284L	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	852	+			284						Silent	SNP	ENST00000356526.2	37	c.852G>A	CCDS33799.1																																																																																				0.363	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			9	61	0	0	0	1	0	9	61				
PRKACB	5567	broad.mit.edu	37	1	84668410	84668410	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84668410C>A	ENST00000370689.2	+	8	951	c.687C>A	c.(685-687)atC>atA	p.I229I	PRKACB_ENST00000370688.3_Silent_p.I229I|PRKACB_ENST00000370680.1_Silent_p.I235I|PRKACB_ENST00000370682.3_Silent_p.I233I|PRKACB_ENST00000370685.3_Silent_p.I276I|PRKACB_ENST00000394838.2_Silent_p.I236I|PRKACB_ENST00000394839.2_Silent_p.I199I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GAGTGCTAATCTATGAAATGG	0.368																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(685-687)atC>atA		protein kinase, cAMP-dependent, catalytic, beta							159.0	154.0	156.0					1																	84668410		2203	4300	6503	SO:0001819	synonymous_variant	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84668410C>A	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.687C>A	1.37:g.84668410C>A						PRKACB_ENST00000370682.3_Silent_p.I233I|PRKACB_ENST00000394839.2_Silent_p.I199I|PRKACB_ENST00000370680.1_Silent_p.I235I|PRKACB_ENST00000394838.2_Silent_p.I236I|PRKACB_ENST00000370685.3_Silent_p.I276I|PRKACB_ENST00000370688.3_Silent_p.I229I	p.I229I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	8	951	+			229			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Silent	SNP	ENST00000370689.2	37	c.687C>A	CCDS691.1																																																																																				0.368	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		6	188	1	0	0.00198382	1	0.00210581	6	188				
PCDHB4	56131	broad.mit.edu	37	5	140502941	140502941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140502941C>T	ENST00000194152.1	+	1	1361	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	454					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.617																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1360-1362)tCc>tTc									78.0	77.0	77.0					5																	140502941		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502941C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1361C>T	5.37:g.140502941C>T	ENSP00000194152:p.Ser454Phe						p.S454F	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1361	+			454					Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1361C>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	4.044	0.005777	0.07866	.	.	ENSG00000081818	ENST00000194152	T	0.03181	4.02	3.97	3.1	0.35709	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.07908	0.0198	L	0.49455	1.56	0.22378	N	0.999152	P	0.44139	0.827	P	0.49683	0.619	T	0.16424	-1.0403	9	0.72032	D	0.01	.	9.1988	0.37244	0.0:0.8186:0.0:0.1814	.	454	Q9Y5E5	PCDB4_HUMAN	F	454	ENSP00000194152:S454F	ENSP00000194152:S454F	S	+	2	0	PCDHB4	140483125	0.000000	0.05858	0.816000	0.32577	0.082000	0.17680	-0.040000	0.12104	1.043000	0.40175	-0.259000	0.10710	TCC		0.617	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		20	46	0	0	0	1	0	20	46				
SCFD1	23256	broad.mit.edu	37	14	31139478	31139478	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31139478G>T	ENST00000458591.2	+	11	1099	c.872G>T	c.(871-873)aGg>aTg	p.R291M	SCFD1_ENST00000541123.1_Missense_Mutation_p.R106M|SCFD1_ENST00000544052.2_Missense_Mutation_p.R224M|SCFD1_ENST00000421551.3_Missense_Mutation_p.R232M|SCFD1_ENST00000396629.2_Missense_Mutation_p.R199M	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	291					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CATTTAAACAGGGTTAATTTG	0.333																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(871-873)aGg>aTg		sec1 family domain containing 1							96.0	117.0	110.0					14																	31139478		2201	4293	6494	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31139478G>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.872G>T	14.37:g.31139478G>T	ENSP00000390783:p.Arg291Met					SCFD1_ENST00000541123.1_Missense_Mutation_p.R106M|SCFD1_ENST00000421551.3_Missense_Mutation_p.R232M|SCFD1_ENST00000396629.2_Missense_Mutation_p.R199M|SCFD1_ENST00000544052.2_Missense_Mutation_p.R224M	p.R291M	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	11	1099	+	Hepatocellular(127;0.0877)		291					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.872G>T	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470006	0.84533	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91543	0.7329	M	0.93720	3.45	0.80722	D	1	P;D;D;D	0.89917	0.949;0.999;1.0;0.999	D;D;D;D	0.77557	0.911;0.987;0.985;0.99	D	0.93188	0.6580	10	0.87932	D	0	-15.483	19.6693	0.95905	0.0:0.0:1.0:0.0	.	232;224;199;291	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	M	291;224;232;106;199	ENSP00000390783:R291M;ENSP00000443010:R224M;ENSP00000388078:R232M;ENSP00000443537:R106M;ENSP00000379870:R199M	ENSP00000309417:R299M	R	+	2	0	SCFD1	30209229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.216000	0.89764	2.711000	0.92665	0.650000	0.86243	AGG		0.333	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		13	210	1	0	7.03913e-09	1	8.47891e-09	13	210				
ZNF506	440515	broad.mit.edu	37	19	19917798	19917798	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19917798A>G	ENST00000540806.2	-	2	171	c.83T>C	c.(82-84)cTa>cCa	p.L28P	ZNF506_ENST00000450683.2_Missense_Mutation_p.L28P|ZNF506_ENST00000587452.1_Missense_Mutation_p.L28P|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.L28P|ZNF506_ENST00000587461.1_Missense_Mutation_p.L28P|ZNF506_ENST00000545006.1_Missense_Mutation_p.L28P			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATCCCTATATAGATTCCGCTG	0.398																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(82-84)cTa>cCa		zinc finger protein 506							107.0	113.0	111.0					19																	19917798		2203	4300	6503	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19917798A>G	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.83T>C	19.37:g.19917798A>G	ENSP00000440625:p.Leu28Pro					ZNF506_ENST00000545006.1_Missense_Mutation_p.L28P|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Missense_Mutation_p.L28P|ZNF506_ENST00000450683.2_Missense_Mutation_p.L28P|ZNF506_ENST00000587461.1_Missense_Mutation_p.L28P|ZNF506_ENST00000540806.2_Missense_Mutation_p.L28P|CTC-559E9.6_ENST00000591884.1_RNA	p.L28P			Q5JVG8	ZN506_HUMAN			2	230	-			28			KRAB.		B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.83T>C	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	10.24	1.294339	0.23564	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683;ENST00000545006	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	0.984	0.984	0.19773	Krueppel-associated box (4);	.	.	.	.	T	0.36054	0.0953	H	0.99090	4.425	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.17868	-1.0355	9	0.87932	D	0	.	4.0872	0.09953	1.0:0.0:0.0:0.0	.	28;28	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	P	28	ENSP00000393835:L28P;ENSP00000440625:L28P;ENSP00000408892:L28P;ENSP00000445149:L28P	ENSP00000393835:L28P	L	-	2	0	ZNF506	19778798	0.022000	0.18835	0.037000	0.18230	0.032000	0.12392	1.913000	0.39956	0.363000	0.24346	0.352000	0.21897	CTA		0.398	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		15	111	0	0	0	1	0	15	111				
CSF1R	1436	broad.mit.edu	37	5	149457685	149457685	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149457685T>C	ENST00000286301.3	-	5	1010	c.719A>G	c.(718-720)aAc>aGc	p.N240S	CSF1R_ENST00000543093.1_Missense_Mutation_p.N240S	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	240	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTTGGTGTTGTTGTGTTGGAG	0.572																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(718-720)aAc>aGc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						223.0	186.0	198.0					5																	149457685		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149457685T>C	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.719A>G	5.37:g.149457685T>C	ENSP00000286301:p.Asn240Ser					CSF1R_ENST00000543093.1_Missense_Mutation_p.N240S	p.N240S	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1010	-			240			Ig-like C2-type 3.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.719A>G	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	T	4.637	0.118349	0.08881	.	.	ENSG00000182578	ENST00000286301;ENST00000394307;ENST00000543093	T;T	0.10763	2.84;2.84	4.47	0.00226	0.14049	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.839720	0.03238	N	0.179912	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26318	0.146;0.056;0.004;0.016	B;B;B;B	0.26202	0.067;0.048;0.005;0.033	T	0.33675	-0.9859	10	0.09084	T	0.74	.	6.4109	0.21690	0.0:0.4261:0.0:0.5739	.	240;240;92;240	B4DG86;B5A955;B4E2Y8;P07333	.;.;.;CSF1R_HUMAN	S	240;92;240	ENSP00000286301:N240S;ENSP00000445282:N240S	ENSP00000286301:N240S	N	-	2	0	CSF1R	149437878	0.004000	0.15560	0.020000	0.16555	0.140000	0.21249	0.340000	0.19892	0.102000	0.17638	0.459000	0.35465	AAC		0.572	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		4	91	0	0	0	1	0	4	91				
LINGO1	84894	broad.mit.edu	37	15	77906905	77906905	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906905G>A	ENST00000355300.6	-	2	1518	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A	LINGO1_ENST00000561030.1_Silent_p.A442A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	448	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTCGCCATCGGCCCGGCACA	0.672																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1342-1344)gcC>gcT		leucine rich repeat and Ig domain containing 1							12.0	15.0	14.0					15																	77906905		2090	4186	6276	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906905G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1344C>T	15.37:g.77906905G>A						LINGO1_ENST00000561030.1_Silent_p.A442A	p.A448A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1518	-			448			Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.1344C>T	CCDS45313.1																																																																																				0.672	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		3	5	0	0	0	1	0	3	5				
SLC26A9	115019	broad.mit.edu	37	1	205904889	205904889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205904889G>A	ENST00000367135.3	-	2	173	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SLC26A9_ENST00000367134.2_Silent_p.F20F|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Silent_p.F20F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	20					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACTCATCGTCGAAGAGGGTAA	0.557																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(58-60)ttC>ttT		solute carrier family 26 (anion exchanger), member 9							194.0	172.0	179.0					1																	205904889		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205904889G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.60C>T	1.37:g.205904889G>A						RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Silent_p.F20F|SLC26A9_ENST00000340781.4_Silent_p.F20F	p.F20F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		2	173	-	Breast(84;0.201)		20					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.60C>T	CCDS30990.1																																																																																				0.557	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		39	48	0	0	0	1	0	39	48				
MTSS1L	92154	broad.mit.edu	37	16	70713743	70713743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70713743G>A	ENST00000338779.6	-	5	602	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	110	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCCTCGATGCGCTCCTGCAGC	0.736																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(328-330)Cgc>Tgc		metastasis suppressor 1-like							31.0	30.0	30.0					16																	70713743		2198	4300	6498	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70713743G>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.328C>T	16.37:g.70713743G>A	ENSP00000341171:p.Arg110Cys						p.R110C	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			5	602	-			110			IMD.		A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.328C>T	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142182	0.57044	.	.	ENSG00000132613	ENST00000254951;ENST00000338779	T	0.38401	1.14	4.69	3.66	0.41972	IRSp53/MIM homology domain (IMD) (3);	0.171310	0.47093	D	0.000247	T	0.42268	0.1195	L	0.52573	1.65	0.58432	D	0.999999	D;B	0.64830	0.994;0.147	P;B	0.50708	0.648;0.029	T	0.45789	-0.9237	10	0.62326	D	0.03	-9.6529	13.9262	0.63964	0.0:0.0:0.7921:0.2079	.	110;110	Q765P7-2;Q765P7	.;MTSSL_HUMAN	C	110	ENSP00000341171:R110C	ENSP00000254951:R110C	R	-	1	0	MTSS1L	69271244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.384000	0.44362	2.168000	0.68352	0.393000	0.25936	CGC		0.736	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		5	18	0	0	0	1	0	5	18				
KIAA2018	205717	broad.mit.edu	37	3	113378522	113378522	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113378522C>A	ENST00000478658.1	-	5	2024	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q669H			Q68DE3	K2018_HUMAN	KIAA2018	669						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAAAGAGCTGTCCATTTA	0.398																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(2005-2007)caG>caT		KIAA2018							143.0	136.0	138.0					3																	113378522		1884	4106	5990	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378522C>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2007G>T	3.37:g.113378522C>A	ENSP00000420721:p.Gln669His					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q669H	p.Q669H	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	2417	-			669					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.2007G>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853646	0.51270	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.31510	1.49;1.49	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.36672	1.1	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.42548	-0.9445	10	0.66056	D	0.02	-5.55	13.7264	0.62761	0.0:0.9256:0.0:0.0744	.	669	Q68DE3	K2018_HUMAN	H	669	ENSP00000320794:Q669H;ENSP00000420721:Q669H	ENSP00000320794:Q669H	Q	-	3	2	KIAA2018	114861212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.024000	0.49674	1.214000	0.43395	0.650000	0.86243	CAG		0.398	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		51	78	1	0	2.27781e-18	1	2.96919e-18	51	78				
ADAMTS16	170690	broad.mit.edu	37	5	5235133	5235133	+	Silent	SNP	G	G	A	rs201095916	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5235133G>A	ENST00000274181.7	+	13	1995	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	619	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCAGGCCATCGCATGGAGGGA	0.433																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1855-1857)tcG>tcA		ADAM metallopeptidase with thrombospondin type 1 motif, 16		G		2,3806		0,2,1902	57.0	58.0	58.0		1857	-8.3	0.0	5		58	2,8208		0,2,4103	no	coding-synonymous	ADAMTS16	NM_139056.2		0,4,6005	AA,AG,GG		0.0244,0.0525,0.0333		619/1225	5235133	4,12014	1904	4105	6009	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235133G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1857G>A	5.37:g.5235133G>A							p.S619S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			13	1995	+			619			TSP type-1 1.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1857G>A	CCDS43299.1																																																																																				0.433	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		12	28	0	0	0	1	0	12	28				
HPD	3242	broad.mit.edu	37	12	122294280	122294280	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122294280C>T	ENST00000289004.4	-	6	309	c.274G>A	c.(274-276)Gga>Aga	p.G92R	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Missense_Mutation_p.G53R	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	92					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTTCACTCCGTCACCGTGT	0.567																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(157-159)Gga>Aga		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						234.0	161.0	186.0					12																	122294280		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122294280C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.274G>A	12.37:g.122294280C>T	ENSP00000289004:p.Gly92Arg					HPD_ENST00000289004.4_Missense_Mutation_p.G92R|RP11-7M8.2_ENST00000543848.1_RNA	p.G53R	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	7	602	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		92					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.157G>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230615	0.79688	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.74526	-0.67;-0.85	5.37	4.48	0.54585	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.166558	0.53938	D	0.000058	D	0.88706	0.6509	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91334	0.5092	10	0.87932	D	0	-16.734	14.1258	0.65219	0.0:0.9277:0.0:0.0723	.	92	P32754	HPPD_HUMAN	R	92;89;53	ENSP00000289004:G92R;ENSP00000441677:G53R	ENSP00000289004:G92R	G	-	1	0	HPD	120778663	0.995000	0.38212	0.177000	0.23020	0.735000	0.41995	3.677000	0.54619	1.404000	0.46819	0.561000	0.74099	GGA		0.567	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		6	53	0	0	0	1	0	6	53				
TRIM51	84767	broad.mit.edu	37	11	55658726	55658726	+	Missense_Mutation	SNP	A	A	T	rs143743456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55658726A>T	ENST00000449290.2	+	7	1069	c.977A>T	c.(976-978)gAa>gTa	p.E326V	TRIM51_ENST00000244891.3_Missense_Mutation_p.E183V	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	326	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GGAAAATCTGAATGTTTTCTT	0.438																																						ENST00000449290.2																			0											c.(976-978)gAa>gTa		tripartite motif-containing 51		A	VAL/GLU	1,4171		0,1,2085	99.0	106.0	104.0		977	-2.3	0.0	11	dbSNP_134	104	0,7958		0,0,3979	no	missense	SPRYD5	NM_032681.3	121	0,1,6064	TT,TA,AA		0.0,0.024,0.0082	benign	326/453	55658726	1,12129	2086	3979	6065	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658726A>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.977A>T	11.37:g.55658726A>T	ENSP00000395086:p.Glu326Val					TRIM51_ENST00000244891.3_Missense_Mutation_p.E183V	p.E326V	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1069	+			326			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.977A>T		.	.	.	.	.	.	.	.	.	.	.	6.211	0.407050	0.11754	2.4E-4	0.0	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.08634	3.07;3.07	1.17	-2.35	0.06684	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.08088	0.0202	M	0.70903	2.155	0.09310	N	1	B	0.29955	0.263	B	0.26202	0.067	T	0.31916	-0.9926	9	0.46703	T	0.11	.	1.3808	0.02230	0.3362:0.0:0.3161:0.3477	.	326	Q9BSJ1	SPRY5_HUMAN	V	326;183	ENSP00000395086:E326V;ENSP00000244891:E183V	ENSP00000244891:E183V	E	+	2	0	SPRYD5	55415302	0.306000	0.24490	0.000000	0.03702	0.090000	0.18270	0.360000	0.20250	-0.748000	0.04753	0.136000	0.15936	GAA		0.438	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		11	136	0	0	0	1	0	11	136				
COL24A1	255631	broad.mit.edu	37	1	86200457	86200457	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86200457G>T	ENST00000370571.2	-	59	5339	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1637H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1658	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAGCACTTTAGGTTCAAGTAG	0.363																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4972-4974)cCt>cAt		collagen, type XXIV, alpha 1							163.0	158.0	159.0					1																	86200457		1861	4095	5956	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86200457G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4973C>A	1.37:g.86200457G>T	ENSP00000359603:p.Pro1658His					COL24A1_ENST00000436319.1_Missense_Mutation_p.P1637H	p.P1658H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	59	5339	-			1658			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4973C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697140	0.48202	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.73152	-0.72;-0.72	5.1	4.19	0.49359	Fibrillar collagen, C-terminal (4);	0.359380	0.20288	N	0.095309	T	0.74650	0.3744	M	0.71206	2.165	0.47276	D	0.99937	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74802	-0.3541	10	0.40728	T	0.16	.	9.1726	0.37091	0.0771:0.1467:0.7762:0.0	.	1658;1637	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	1658;1637	ENSP00000359603:P1658H;ENSP00000392531:P1637H	ENSP00000359603:P1658H	P	-	2	0	COL24A1	85973045	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	6.461000	0.73522	1.366000	0.46076	0.557000	0.71058	CCT		0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		16	215	1	0	1.67942e-08	1	2.01326e-08	16	215				
SYS1	90196	broad.mit.edu	37	20	43995598	43995598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43995598G>A	ENST00000243918.5	+	4	605	c.314G>A	c.(313-315)gGc>gAc	p.G105D	SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000414310.1_Missense_Mutation_p.G84D|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.G105D	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	105					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CACCTCCTGGGCTGCTGGTTC	0.587																																						ENST00000243918.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7						c.(313-315)gGc>gAc		SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)							142.0	119.0	127.0					20																	43995598		2203	4300	6503	SO:0001583	missense	90196				protein transport	Golgi membrane|integral to membrane		g.chr20:43995598G>A	AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.314G>A	20.37:g.43995598G>A	ENSP00000243918:p.Gly105Asp					SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.G105D|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_Missense_Mutation_p.G84D|SYS1-DBNDD2_ENST00000452133.1_Intron	p.G105D	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN			4	605	+		Myeloproliferative disorder(115;0.0122)	105					C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Missense_Mutation	SNP	ENST00000243918.5	37	c.314G>A	CCDS13351.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906858	0.92107	.	.	ENSG00000204070	ENST00000372727;ENST00000414310;ENST00000243918;ENST00000453003	.	.	.	6.17	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.63428	1.95	0.80722	D	1	D	0.59357	0.985	P	0.57057	0.812	T	0.71101	-0.4690	9	0.52906	T	0.07	-15.1063	14.7487	0.69508	0.0685:0.0:0.9315:0.0	.	105	Q8N2H4	SYS1_HUMAN	D	105;84;105;105	.	ENSP00000243918:G105D	G	+	2	0	SYS1	43429012	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.185000	0.94900	1.636000	0.50526	0.655000	0.94253	GGC		0.587	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079453.2	NM_033542		36	48	0	0	0	1	0	36	48				
SLC4A1	6521	broad.mit.edu	37	17	42335492	42335492	+	Missense_Mutation	SNP	G	G	T	rs563083166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42335492G>T	ENST00000262418.6	-	11	1299	c.1144C>A	c.(1144-1146)Ctg>Atg	p.L382M	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	382					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCACGCACCAGGCCCCCGAAG	0.582																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1144-1146)Ctg>Atg		solute carrier family 4 (anion exchanger), member 1							71.0	78.0	76.0					17																	42335492		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335492G>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1144C>A	17.37:g.42335492G>T	ENSP00000262418:p.Leu382Met					AC003043.1_ENST00000597382.1_Intron	p.L382M	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	11	1299	-		Breast(137;0.014)|Prostate(33;0.0181)	382					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1144C>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.958245	0.34565	.	.	ENSG00000004939	ENST00000262418	D	0.84442	-1.85	4.82	-2.3	0.06785	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.123646	0.52532	N	0.000063	T	0.80325	0.4602	N	0.21142	0.635	0.32931	D	0.517193	D;P	0.69078	0.997;0.932	D;P	0.68039	0.955;0.855	T	0.77083	-0.2719	10	0.52906	T	0.07	.	2.84	0.05526	0.2928:0.1143:0.4763:0.1166	.	382;382	E2RVJ0;P02730	.;B3AT_HUMAN	M	382	ENSP00000262418:L382M	ENSP00000262418:L382M	L	-	1	2	SLC4A1	39691018	0.527000	0.26306	0.980000	0.43619	0.688000	0.40055	0.779000	0.26746	-0.010000	0.14271	-0.254000	0.11334	CTG		0.582	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		44	85	1	0	1.61004e-24	1	2.13591e-24	44	85				
GRIK1	2897	broad.mit.edu	37	21	30909580	30909580	+	Nonsense_Mutation	SNP	G	G	A	rs370511471		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30909580G>A	ENST00000389125.3	-	16	2813	c.2689C>T	c.(2689-2691)Cga>Tga	p.R897*	GRIK1_ENST00000399914.1_Nonsense_Mutation_p.R926*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.R912*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.R914*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.R941*	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CTCTGAGTTCGTCTCTGATGA	0.398													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18350	0.0		0.0	False		,,,				2504	0.0					ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2776-2778)Cga>Tga		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)	G	stop/ARG	0,4406		0,0,2203	100.0	93.0	95.0		2689	4.6	1.0	21		95	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GRIK1	NM_175611.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		897/906	30909580	1,13005	2203	4300	6503	SO:0001587	stop_gained	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30909580G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000389125.3:c.2689C>T	21.37:g.30909580G>A	ENSP00000373777:p.Arg897*					GRIK1_ENST00000399913.1_Nonsense_Mutation_p.R912*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.R897*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.R914*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.R941*	p.R926*			P39086	GRIK1_HUMAN			17	3297	-			0					Q13001|Q86SU9	Nonsense_Mutation	SNP	ENST00000389125.3	37	c.2776C>T	CCDS33530.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804233	0.96967	0.0	1.16E-4	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441	.	.	.	4.55	4.55	0.56014	.	0.775835	0.10746	N	0.638871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9023	0.58133	0.0:0.0:0.8031:0.1969	.	.	.	.	X	941;897;912;926;914	.	ENSP00000327687:R941X	R	-	1	2	GRIK1	29831451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.163000	0.42377	2.821000	0.97095	0.484000	0.47621	CGA		0.398	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171978.1			14	35	0	0	0	1	0	14	35				
NOMO1	23420	broad.mit.edu	37	16	14969012	14969012	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14969012G>A	ENST00000287667.7	+	19	2345	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	725						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GAGAAAAACGGCAATGAGGAA	0.582																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2173-2175)gGc>gAc		NODAL modulator 1							212.0	219.0	217.0					16																	14969012		2197	4299	6496	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14969012G>A	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2174G>A	16.37:g.14969012G>A	ENSP00000287667:p.Gly725Asp						p.G725D	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			19	2345	+			725					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2174G>A	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	5.511	0.279314	0.10458	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04119	3.7	2.86	2.86	0.33363	.	0.236124	0.43579	D	0.000559	T	0.03390	0.0098	N	0.14661	0.345	0.58432	D	0.999999	B	0.12630	0.006	B	0.12156	0.007	T	0.48479	-0.9032	10	0.37606	T	0.19	-14.5848	11.5317	0.50614	0.0:0.0:1.0:0.0	.	725	Q15155	NOMO1_HUMAN	D	725;725;558	ENSP00000287667:G725D	ENSP00000287667:G725D	G	+	2	0	NOMO1	14876513	1.000000	0.71417	0.276000	0.24689	0.082000	0.17680	5.496000	0.66918	1.590000	0.49995	0.184000	0.17185	GGC		0.582	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			6	156	0	0	0	1	0	6	156				
PFAS	5198	broad.mit.edu	37	17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A	rs561030492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19676	0.0		0.0	False		,,,				2504	0.001					ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2857-2859)Gtg>Atg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						54.0	51.0	52.0					17																	8170106		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170106G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2857G>A	17.37:g.8170106G>A	ENSP00000313490:p.Val953Met					PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	p.V953M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			23	2990	+			953					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2857G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799131	0.90538	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.39997	1.05;1.05	5.24	5.24	0.73138	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	H	0.94542	3.55	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	10	0.87932	D	0	-17.4026	16.6687	0.85260	0.0:0.0:1.0:0.0	.	953;953	A8K8N7;O15067	.;PUR4_HUMAN	M	529;953;362	ENSP00000441706:V529M;ENSP00000313490:V953M	ENSP00000313490:V953M	V	+	1	0	PFAS	8110831	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.109000	0.71528	2.605000	0.88082	0.561000	0.74099	GTG		0.662	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			20	17	0	0	0	1	0	20	17				
TRAPPC6B	122553	broad.mit.edu	37	14	39621037	39621037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39621037C>T	ENST00000330149.5	-	5	584	c.358G>A	c.(358-360)Gca>Aca	p.A120T	TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.A92T|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	120					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CACGTAAATGCTAAATACTAA	0.294																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(358-360)Gca>Aca		trafficking protein particle complex 6B							76.0	77.0	77.0					14																	39621037		2202	4299	6501	SO:0001583	missense	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39621037C>T	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.358G>A	14.37:g.39621037C>T	ENSP00000330289:p.Ala120Thr					TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.A92T|TRAPPC6B_ENST00000557764.1_5'UTR	p.A120T	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	5	584	-	Hepatocellular(127;0.213)		120					B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	c.358G>A	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991851	0.93106	.	.	ENSG00000182400	ENST00000330149;ENST00000347691;ENST00000554018	T;T;T	0.47528	0.84;0.84;0.85	5.96	5.96	0.96718	NO signalling/Golgi transport  ligand-binding domain (1);	0.091768	0.85682	D	0.000000	T	0.73892	0.3645	M	0.87328	2.875	0.80722	D	1	P;D;D	0.76494	0.943;0.999;0.999	P;P;D	0.70935	0.775;0.9;0.971	T	0.72830	-0.4174	10	0.38643	T	0.18	-17.3076	20.422	0.99049	0.0:1.0:0.0:0.0	.	58;92;120	B4DFZ8;Q86SZ2-2;Q86SZ2	.;.;TPC6B_HUMAN	T	120;92;91	ENSP00000330289:A120T;ENSP00000335171:A92T;ENSP00000450670:A91T	ENSP00000330289:A120T	A	-	1	0	TRAPPC6B	38690788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.279000	0.78599	2.832000	0.97577	0.655000	0.94253	GCA		0.294	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		16	38	0	0	0	1	0	16	38				
LGI2	55203	broad.mit.edu	37	4	25005708	25005708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005708C>T	ENST00000382114.4	-	8	1188	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	335						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTCTCGTCGTCGATCTGAAAC	0.438																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1003-1005)Gac>Aac		leucine-rich repeat LGI family, member 2							139.0	139.0	139.0					4																	25005708		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005708C>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1003G>A	4.37:g.25005708C>T	ENSP00000371548:p.Asp335Asn						p.D335N	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1188	-		Breast(46;0.173)	335					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1003G>A	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535530	0.64972	.	.	ENSG00000153012	ENST00000382114	D	0.82081	-1.57	5.55	5.55	0.83447	.	0.192292	0.56097	D	0.000039	T	0.81245	0.4782	L	0.42245	1.32	0.44946	D	0.997964	B	0.30439	0.279	B	0.33196	0.159	T	0.79478	-0.1787	10	0.59425	D	0.04	-10.7437	19.8769	0.96880	0.0:1.0:0.0:0.0	.	335	Q8N0V4	LGI2_HUMAN	N	335	ENSP00000371548:D335N	ENSP00000371548:D335N	D	-	1	0	LGI2	24614806	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.050000	0.71063	2.767000	0.95098	0.557000	0.71058	GAC		0.438	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			37	64	0	0	0	1	0	37	64				
NLRP14	338323	broad.mit.edu	37	11	7059905	7059905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7059905T>C	ENST00000299481.4	+	2	434	c.88T>C	c.(88-90)Ttc>Ctc	p.F30L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	30	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATTAAATACATTCAAGTTATT	0.428																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(88-90)Ttc>Ctc		NLR family, pyrin domain containing 14							88.0	94.0	92.0					11																	7059905		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059905T>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.88T>C	11.37:g.7059905T>C	ENSP00000299481:p.Phe30Leu						p.F30L	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	434	+			30			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.88T>C	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159158	0.78226	.	.	ENSG00000158077	ENST00000299481	D	0.87179	-2.22	4.22	4.22	0.49857	Pyrin (2);DEATH-like (2);	0.000000	0.49305	D	0.000155	D	0.92916	0.7746	M	0.85099	2.735	0.31900	N	0.616094	D	0.76494	0.999	D	0.87578	0.998	D	0.92728	0.6197	10	0.87932	D	0	.	9.9902	0.41865	0.0:0.0:0.0:1.0	.	30	Q86W24	NAL14_HUMAN	L	30	ENSP00000299481:F30L	ENSP00000299481:F30L	F	+	1	0	NLRP14	7016481	1.000000	0.71417	0.974000	0.42286	0.874000	0.50279	4.314000	0.59166	2.134000	0.65973	0.533000	0.62120	TTC		0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		5	77	0	0	0	1	0	5	77				
VPS72	6944	broad.mit.edu	37	1	151149423	151149423	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151149423G>T	ENST00000354473.4	-	6	861	c.825C>A	c.(823-825)acC>acA	p.T275T	VPS72_ENST00000496809.1_5'UTR|TMOD4_ENST00000416280.2_5'Flank|TMOD4_ENST00000601585.1_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	264					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGTGATGAAGGTACGTGAGC	0.557																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(823-825)acC>acA		vacuolar protein sorting 72 homolog (S. cerevisiae)							41.0	46.0	44.0					1																	151149423		2203	4300	6503	SO:0001819	synonymous_variant	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151149423G>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.825C>A	1.37:g.151149423G>T						VPS72_ENST00000496809.1_5'UTR	p.T275T	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	861	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		264					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.825C>A	CCDS59201.1																																																																																				0.557	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		6	71	1	0	4.096e-09	1	4.95403e-09	6	71				
ADA	100	broad.mit.edu	37	20	43251484	43251484	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43251484T>G	ENST00000372874.4	-	8	900	c.766A>C	c.(766-768)Aac>Cac	p.N256H	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Missense_Mutation_p.N232H|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	256					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AAGTGCATGTTTTCCTGCCGC	0.592									Adenosine Deaminase Deficiency																													ENST00000372874.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(766-768)Aac>Cac		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						114.0	119.0	118.0					20																	43251484		2203	4300	6503	SO:0001583	missense	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43251484T>G	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.766A>C	20.37:g.43251484T>G	ENSP00000361965:p.Asn256His					PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Missense_Mutation_p.N232H	p.N256H	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	900	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	256					Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	c.766A>C	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.829178	0.50845	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.96885	-4.16;-4.16	5.18	1.63	0.23807	Adenosine/AMP deaminase (1);	0.426470	0.30051	N	0.010521	D	0.93687	0.7983	L	0.53780	1.695	0.45108	D	0.998123	B	0.21309	0.054	B	0.28849	0.095	D	0.88552	0.3117	10	0.44086	T	0.13	-6.6745	9.0297	0.36252	0.0:0.2984:0.0:0.7016	.	256	P00813	ADA_HUMAN	H	256;232	ENSP00000361965:N256H;ENSP00000441818:N232H	ENSP00000361965:N256H	N	-	1	0	ADA	42684898	0.892000	0.30473	0.435000	0.26784	0.889000	0.51656	1.287000	0.33284	0.317000	0.23160	0.379000	0.24179	AAC		0.592	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		46	95	0	0	0	1	0	46	95				
ITIH6	347365	broad.mit.edu	37	X	54817513	54817513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54817513G>A	ENST00000218436.6	-	4	402	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	ITIH6_ENST00000498398.1_5'Flank	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	125	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCTGATTCCCGGTCCCTGGGC	0.582																																						ENST00000218436.6																			0											c.(373-375)Cgg>Tgg		inter-alpha-trypsin inhibitor heavy chain family, member 6							34.0	31.0	32.0					X																	54817513		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54817513G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.373C>T	X.37:g.54817513G>A	ENSP00000218436:p.Arg125Trp						p.R125W	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			4	402	-			125			VIT.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.373C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336720	0.41398	.	.	ENSG00000102313	ENST00000218436	T	0.25414	1.8	4.94	-1.48	0.08745	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.371006	0.22036	U	0.065523	T	0.39963	0.1098	M	0.79926	2.475	0.20489	N	0.999892	D	0.76494	0.999	D	0.66979	0.948	T	0.29912	-0.9996	10	0.87932	D	0	.	1.6055	0.02683	0.1969:0.1185:0.4408:0.2438	.	125	Q6UXX5	ITH5L_HUMAN	W	125	ENSP00000218436:R125W	ENSP00000218436:R125W	R	-	1	2	ITIH5L	54834238	0.005000	0.15991	0.001000	0.08648	0.489000	0.33432	-0.077000	0.11394	-0.440000	0.07211	0.492000	0.49549	CGG		0.582	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		8	11	0	0	0	1	0	8	11				
ABCG8	64241	broad.mit.edu	37	2	44078951	44078951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44078951G>A	ENST00000272286.2	+	4	641	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	184	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> H (in STSL). {ECO:0000269|PubMed:11452359}.		ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.R184H(1)|p.R184L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CAGGCCCAGCGTGACAAAAGG	0.622																																						ENST00000272286.2																			2	Substitution - Missense(2)	p.R184H(1)|p.R184L(1)	lung(1)|breast(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45	GRCh37	CM012312	ABCG8	M		c.(550-552)cGt>cAt		ATP-binding cassette, sub-family G (WHITE), member 8							98.0	107.0	104.0					2																	44078951		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078951G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.551G>A	2.37:g.44078951G>A	ENSP00000272286:p.Arg184His						p.R184H	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			4	641	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	184		R -> H (in STSL).	ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.551G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552619	0.65425	.	.	ENSG00000143921	ENST00000272286	T	0.42513	0.97	4.98	4.1	0.47936	ABC transporter-like (2);	0.097521	0.64402	N	0.000004	T	0.35566	0.0936	L	0.38733	1.17	0.80722	D	1	P;P	0.39847	0.501;0.691	B;B	0.38880	0.133;0.284	T	0.28299	-1.0048	10	0.87932	D	0	.	13.7348	0.62811	0.0753:0.0:0.9247:0.0	.	184;184	Q9H221-2;Q9H221	.;ABCG8_HUMAN	H	184	ENSP00000272286:R184H	ENSP00000272286:R184H	R	+	2	0	ABCG8	43932455	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.201000	0.77847	1.078000	0.41014	0.655000	0.94253	CGT		0.622	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		21	53	0	0	0	1	0	21	53				
ARHGEF25	115557	broad.mit.edu	37	12	58009709	58009709	+	Silent	SNP	C	C	T	rs554555945		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58009709C>T	ENST00000286494.4	+	13	1789	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.R482R|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	443	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGATCCAGCGCTATGTCCTGC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20649	0.0		0.0	False		,,,				2504	0.0					ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1327-1329)cgC>cgT		Rho guanine nucleotide exchange factor (GEF) 25							117.0	112.0	113.0					12																	58009709		2203	4300	6503	SO:0001819	synonymous_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009709C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1329C>T	12.37:g.58009709C>T						AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Silent_p.R482R	p.R443R	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			13	1789	+			443			PH.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	37	c.1329C>T	CCDS8947.1																																																																																				0.597	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		43	46	0	0	0	1	0	43	46				
MAN2B2	23324	broad.mit.edu	37	4	6596380	6596380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6596380C>T	ENST00000285599.3	+	7	1014	c.978C>T	c.(976-978)ggC>ggT	p.G326G	MAN2B2_ENST00000504248.1_Silent_p.G275G	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	326					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCACGCTGGGCGACTACTTCC	0.617																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(976-978)ggC>ggT		mannosidase, alpha, class 2B, member 2							125.0	94.0	104.0					4																	6596380		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6596380C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.978C>T	4.37:g.6596380C>T						MAN2B2_ENST00000504248.1_Silent_p.G275G	p.G326G	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			7	1014	+			326					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.978C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	5.911	0.352222	0.11182	.	.	ENSG00000013288	ENST00000505907	.	.	.	4.52	-7.69	0.01263	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	-1.2223	3.652	0.08206	0.1964:0.1221:0.1015:0.5801	.	.	.	.	V	325	.	.	A	+	2	0	MAN2B2	6647281	0.000000	0.05858	0.002000	0.10522	0.595000	0.36748	-2.038000	0.01419	-1.234000	0.02548	-0.284000	0.09977	GCG		0.617	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		7	19	0	0	0	1	0	7	19				
IGF1R	3480	broad.mit.edu	37	15	99467760	99467760	+	Nonsense_Mutation	SNP	C	C	T	rs150221450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99467760C>T	ENST00000268035.6	+	13	3240	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.R877*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	877	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCAGGATCAGCGAGAATGTGT	0.517																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2629-2631)Cga>Tga		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	C	stop/ARG	1,4393	2.1+/-5.4	0,1,2196	148.0	149.0	148.0		2629	4.2	1.0	15	dbSNP_134	148	0,8594		0,0,4297	no	stop-gained	IGF1R	NM_000875.3		0,1,6493	TT,TC,CC		0.0,0.0228,0.0077		877/1368	99467760	1,12987	2197	4297	6494	SO:0001587	stop_gained	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467760C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2629C>T	15.37:g.99467760C>T	ENSP00000268035:p.Arg877*					IGF1R_ENST00000558762.1_Nonsense_Mutation_p.R877*	p.R877*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		13	3240	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		877			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Nonsense_Mutation	SNP	ENST00000268035.6	37	c.2629C>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	46	12.712010	0.99690	2.28E-4	0.0	ENSG00000140443	ENST00000268035	.	.	.	6.08	4.18	0.49190	.	0.000000	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.978	0.47478	0.3696:0.5112:0.1192:0.0	.	.	.	.	X	877	.	ENSP00000268035:R877X	R	+	1	2	IGF1R	97285283	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.938000	0.48987	0.879000	0.35944	0.655000	0.94253	CGA		0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		58	101	0	0	0	1	0	58	101				
HCCS	3052	broad.mit.edu	37	X	11135463	11135463	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11135463C>T	ENST00000321143.4	+	4	531	c.329C>T	c.(328-330)cCg>cTg	p.P110L	HCCS_ENST00000380762.4_Missense_Mutation_p.P110L|Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380763.3_Missense_Mutation_p.P110L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	110					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						TCATCCATTCCGAGAGCAGAT	0.388																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(328-330)cCg>cTg		holocytochrome c synthase							152.0	145.0	147.0					X																	11135463		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11135463C>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.329C>T	X.37:g.11135463C>T	ENSP00000326579:p.Pro110Leu					HCCS_ENST00000380763.3_Missense_Mutation_p.P110L|HCCS_ENST00000380762.4_Missense_Mutation_p.P110L	p.P110L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			4	531	+			110					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.329C>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181441	0.78677	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.95272	-3.66;-3.66;-3.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	-21.0112	16.0319	0.80585	0.0:1.0:0.0:0.0	.	110	P53701	CCHL_HUMAN	L	110	ENSP00000326579:P110L;ENSP00000370140:P110L;ENSP00000370139:P110L	ENSP00000326579:P110L	P	+	2	0	HCCS	11045384	1.000000	0.71417	0.919000	0.36401	0.524000	0.34500	7.306000	0.78905	2.387000	0.81309	0.600000	0.82982	CCG		0.388	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			65	84	0	0	0	1	0	65	84				
CYFIP1	23191	broad.mit.edu	37	15	22958208	22958208	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22958208C>T	ENST00000313077.7	+	17	1976	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	CYFIP1_ENST00000435939.2_Silent_p.D186D|CYFIP1_ENST00000560848.1_Silent_p.D617D	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGCTGTGACCTTTCGCAGC	0.532																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1849-1851)gaC>gaT		cytoplasmic FMR1 interacting protein 1							129.0	105.0	113.0					15																	22958208		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22958208C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1851C>T	15.37:g.22958208C>T						CYFIP1_ENST00000435939.2_Silent_p.D186D|CYFIP1_ENST00000560848.1_Silent_p.D617D	p.D617D	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	17	1976	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	617						Silent	SNP	ENST00000313077.7	37	c.1851C>T	CCDS10009.1																																																																																				0.532	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		13	19	0	0	0	1	0	13	19				
SCMH1	22955	broad.mit.edu	37	1	41512229	41512229	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41512229C>T	ENST00000326197.7	-	11	1617	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	SCMH1_ENST00000456518.2_Missense_Mutation_p.V282I|SCMH1_ENST00000402904.2_Missense_Mutation_p.V440I|SCMH1_ENST00000361705.3_Missense_Mutation_p.V393I|SCMH1_ENST00000397171.2_Missense_Mutation_p.V379I|SCMH1_ENST00000337495.5_Missense_Mutation_p.V450I|SCMH1_ENST00000361191.5_Missense_Mutation_p.V379I|SCMH1_ENST00000372597.1_Missense_Mutation_p.V393I|SCMH1_ENST00000372595.1_Missense_Mutation_p.V379I|SCMH1_ENST00000372596.1_Missense_Mutation_p.V379I|SCMH1_ENST00000397174.2_Missense_Mutation_p.V420I					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ATGCTGTTGACTGCTGGGAGG	0.542																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1318-1320)Gtc>Atc		sex comb on midleg homolog 1 (Drosophila)							204.0	151.0	169.0					1																	41512229		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41512229C>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1318G>A	1.37:g.41512229C>T	ENSP00000318094:p.Val440Ile					SCMH1_ENST00000337495.5_Missense_Mutation_p.V450I|SCMH1_ENST00000397171.2_Missense_Mutation_p.V379I|SCMH1_ENST00000397174.2_Missense_Mutation_p.V420I|SCMH1_ENST00000372595.1_Missense_Mutation_p.V379I|SCMH1_ENST00000372596.1_Missense_Mutation_p.V379I|SCMH1_ENST00000361705.3_Missense_Mutation_p.V393I|SCMH1_ENST00000326197.7_Missense_Mutation_p.V440I|SCMH1_ENST00000372597.1_Missense_Mutation_p.V393I|SCMH1_ENST00000456518.2_Missense_Mutation_p.V282I|SCMH1_ENST00000361191.5_Missense_Mutation_p.V379I	p.V440I	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			12	1686	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	440						Missense_Mutation	SNP	ENST00000326197.7	37	c.1318G>A	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025400	0.93518	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	6.17	6.17	0.99709	.	0.133420	0.51477	D	0.000100	T	0.67674	0.2918	L	0.61036	1.89	0.54753	D	0.999986	D;P;D;D	0.64830	0.987;0.943;0.983;0.994	P;P;P;D	0.69654	0.891;0.496;0.826;0.965	T	0.65586	-0.6132	10	0.59425	D	0.04	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	282;450;393;440	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	I	393;282;440;420;379;379;393;379;450;379;440	ENSP00000354996:V393I;ENSP00000403974:V282I;ENSP00000386079:V440I;ENSP00000380359:V420I;ENSP00000380356:V379I;ENSP00000354656:V379I;ENSP00000361678:V393I;ENSP00000361677:V379I;ENSP00000337352:V450I;ENSP00000361676:V379I;ENSP00000318094:V440I	ENSP00000318094:V440I	V	-	1	0	SCMH1	41284816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.941000	0.99782	0.655000	0.94253	GTC		0.542	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			5	74	0	0	0	1	0	5	74				
TRPM7	54822	broad.mit.edu	37	15	50950006	50950006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50950006C>A	ENST00000313478.7	-	3	375	c.94G>T	c.(94-96)Gga>Tga	p.G32*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.G32*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	32					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTTGACATCCTGGAAGGCAT	0.259																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(94-96)Gga>Tga		transient receptor potential cation channel, subfamily M, member 7							55.0	50.0	51.0					15																	50950006		1790	4065	5855	SO:0001587	stop_gained	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50950006C>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.94G>T	15.37:g.50950006C>A	ENSP00000320239:p.Gly32*					TRPM7_ENST00000560955.1_Nonsense_Mutation_p.G32*	p.G32*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	3	375	-			32					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Nonsense_Mutation	SNP	ENST00000313478.7	37	c.94G>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	38	6.904335	0.97924	.	.	ENSG00000092439	ENST00000313478	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.6632	18.1496	0.89671	0.0:1.0:0.0:0.0	.	.	.	.	X	32	.	ENSP00000320239:G32X	G	-	1	0	TRPM7	48737298	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.274000	0.78538	2.296000	0.77279	0.650000	0.86243	GGA		0.259	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		4	40	1	0	0.000602214	1	0.000649039	4	40				
ITIH5	80760	broad.mit.edu	37	10	7621856	7621856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7621856G>A	ENST00000256861.6	-	9	1358	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213V|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427V|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427V|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTGGCCTCGGGCGGCCTCTCG	0.622																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1279-1281)gCc>gTc		inter-alpha-trypsin inhibitor heavy chain family, member 5							134.0	122.0	126.0					10																	7621856		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621856G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1280C>T	10.37:g.7621856G>A	ENSP00000256861:p.Ala427Val					ITIH5_ENST00000298441.6_Missense_Mutation_p.A213V|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427V|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209V	p.A427V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			9	1358	-			427			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1280C>T		.	.	.	.	.	.	.	.	.	.	G	0.048	-1.260211	0.01445	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.2	5.2	0.72013	von Willebrand factor, type A (3);	0.388819	0.30979	N	0.008484	T	0.63593	0.2524	.	.	.	0.09310	N	0.999999	B;B;B	0.20261	0.011;0.043;0.035	B;B;B	0.20384	0.014;0.029;0.017	T	0.49943	-0.8885	9	0.33141	T	0.24	-17.5123	6.784	0.23664	0.2208:0.0:0.7792:0.0	.	427;427;213	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	V	427;427;213;209;427	ENSP00000256861:A427V;ENSP00000380333:A427V;ENSP00000298441:A213V;ENSP00000387969:A209V;ENSP00000380332:A427V	ENSP00000256861:A427V	A	-	2	0	ITIH5	7661862	1.000000	0.71417	0.010000	0.14722	0.124000	0.20399	5.746000	0.68681	2.422000	0.82143	0.462000	0.41574	GCC		0.622	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		17	27	0	0	0	1	0	17	27				
KDM6A	7403	broad.mit.edu	37	X	44919321	44919321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44919321C>T	ENST00000377967.4	+	13	1290	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	KDM6A_ENST00000382899.4_Intron|KDM6A_ENST00000536777.1_Intron|KDM6A_ENST00000543216.1_Intron	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	417	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAAATTACTTCCTAGTATTGA	0.433			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1249-1251)Cct>Tct		lysine (K)-specific demethylase 6A							52.0	45.0	47.0					X																	44919321		2202	4300	6502	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44919321C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1249C>T	X.37:g.44919321C>T	ENSP00000367203:p.Pro417Ser					KDM6A_ENST00000543216.1_Intron|KDM6A_ENST00000382899.4_Intron|KDM6A_ENST00000536777.1_Intron	p.P417S	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			13	1290	+			417					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.1249C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.962014|2.962014	0.53400|0.53400	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000535688|ENST00000433797	T|.	0.25579|.	1.79|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.867;1.0;1.0|.	P;D;D|.	0.87578|.	0.484;0.994;0.998|.	T|T	0.79529|0.79529	-0.1766|-0.1766	10|5	0.44086|.	T|.	0.13|.	-11.0609|-11.0609	18.609|18.609	0.91277|0.91277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	417;417;417|.	B7ZKN5;B4E253;O15550|.	.;.;KDM6A_HUMAN|.	S|F	62;417;10|7	ENSP00000367203:P417S|.	ENSP00000334340:P62S|.	P|S	+|+	1|2	0|0	KDM6A|KDM6A	44804265|44804265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.426000|7.426000	0.80270|0.80270	2.338000|2.338000	0.79540|0.79540	0.513000|0.513000	0.50165|0.50165	CCT|TCC		0.433	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		5	17	0	0	0	1	0	5	17				
SGCE	8910	broad.mit.edu	37	7	94259103	94259103	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94259103C>A	ENST00000265735.7	-	2	270	c.160G>T	c.(160-162)Gca>Tca	p.A54S	SGCE_ENST00000445866.2_Missense_Mutation_p.A54S|SGCE_ENST00000447873.1_Missense_Mutation_p.A54S|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000415788.2_Missense_Mutation_p.A90S|SGCE_ENST00000428696.2_Missense_Mutation_p.A54S	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	54					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGACACCTGCTGATGGGTAT	0.378																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(268-270)Gca>Tca		sarcoglycan, epsilon							108.0	114.0	112.0					7																	94259103		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94259103C>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.160G>T	7.37:g.94259103C>A	ENSP00000265735:p.Ala54Ser					SGCE_ENST00000445866.2_Missense_Mutation_p.A54S|SGCE_ENST00000428696.2_Missense_Mutation_p.A54S|SGCE_ENST00000265735.7_Missense_Mutation_p.A54S|SGCE_ENST00000447873.1_Missense_Mutation_p.A54S|SGCE_ENST00000437425.2_Intron	p.A90S			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	355	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		54					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.268G>T	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462918	0.63513	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.66	5.66	0.87406	Dystroglycan-type cadherin-like (1);	0.046710	0.85682	D	0.000000	D	0.92964	0.7761	N	0.19112	0.55	0.58432	D	0.999998	B;B;B;B	0.29378	0.243;0.006;0.065;0.17	B;B;B;B	0.27262	0.078;0.034;0.049;0.068	D	0.90574	0.4524	10	0.34782	T	0.22	-15.5504	14.9003	0.70672	0.1434:0.8566:0.0:0.0	.	90;54;54;54	B7Z2R4;E9PF60;G5E9K6;O43556	.;.;.;SGCE_HUMAN	S	54;54;54;54;90	ENSP00000265735:A54S;ENSP00000398930:A54S;ENSP00000388734:A54S;ENSP00000397536:A54S;ENSP00000405313:A90S	ENSP00000265735:A54S	A	-	1	0	SGCE	94097039	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.621000	0.67743	2.834000	0.97654	0.655000	0.94253	GCA		0.378	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			110	93	1	0	3.24833e-45	1	4.38732e-45	110	93				
PKHD1	5314	broad.mit.edu	37	6	51524157	51524157	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51524157C>T	ENST00000371117.3	-	61	11042	c.10767G>A	c.(10765-10767)caG>caA	p.Q3589Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3589					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.Q3589H(1)|p.Q3589_I3590>HV(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGGCCAATCTGTAAGAAGT	0.433																																						ENST00000371117.3																			2	Substitution - Missense(1)|Complex - compound substitution(1)	p.Q3589H(1)|p.Q3589_I3590>HV(1)	urinary_tract(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10765-10767)caG>caA		polycystic kidney and hepatic disease 1 (autosomal recessive)							103.0	104.0	104.0					6																	51524157		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524157C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10767G>A	6.37:g.51524157C>T							p.Q3589Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11042	-	Lung NSC(77;0.0605)		3589					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10767G>A	CCDS4935.1																																																																																				0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	76	0	0	0	1	0	10	76				
URGCP	55665	broad.mit.edu	37	7	43917891	43917891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917891G>A	ENST00000453200.1	-	6	1664	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.R382C|URGCP_ENST00000223341.7_Missense_Mutation_p.R348C|URGCP_ENST00000336086.6_Missense_Mutation_p.R348C|URGCP_ENST00000443736.1_Missense_Mutation_p.R348C|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.R348C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	391					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTTCCCACGGTAGGGACTC	0.413																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1042-1044)Cgt>Tgt		upregulator of cell proliferation							127.0	122.0	124.0					7																	43917891		1958	4152	6110	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917891G>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1171C>T	7.37:g.43917891G>A	ENSP00000396918:p.Arg391Cys					URGCP_ENST00000447717.3_Missense_Mutation_p.R348C|URGCP_ENST00000443736.1_Missense_Mutation_p.R348C|URGCP_ENST00000402306.3_Missense_Mutation_p.R382C|URGCP_ENST00000223341.7_Missense_Mutation_p.R348C|URGCP_ENST00000453200.1_Missense_Mutation_p.R391C|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron	p.R348C			Q8TCY9	URGCP_HUMAN			4	3278	-			391					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1042C>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940868	0.52972	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10573	2.87;2.87;2.87;2.87;2.86;2.87	5.48	4.58	0.56647	.	0.395644	0.27306	N	0.019975	T	0.24275	0.0588	L	0.57536	1.79	0.43517	D	0.995787	D;D	0.76494	0.999;0.999	P;P	0.60949	0.881;0.881	T	0.00668	-1.1618	10	0.66056	D	0.02	-19.9148	11.243	0.48980	0.0:0.0:0.6671:0.3328	.	382;391	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	C	348;348;382;348;391;348	ENSP00000223341:R348C;ENSP00000336872:R348C;ENSP00000384955:R382C;ENSP00000392136:R348C;ENSP00000396918:R391C;ENSP00000402803:R348C	ENSP00000223341:R348C	R	-	1	0	URGCP	43884416	0.621000	0.27077	0.999000	0.59377	0.979000	0.70002	1.989000	0.40707	1.284000	0.44531	0.591000	0.81541	CGT		0.413	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		40	150	0	0	0	1	0	40	150				
GALNT14	79623	broad.mit.edu	37	2	31135138	31135138	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31135138G>T	ENST00000349752.5	-	14	2090	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	GALNT14_ENST00000406653.1_Missense_Mutation_p.P464H|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.P451H|GALNT14_ENST00000324589.5_Missense_Mutation_p.P489H|GALNT14_ENST00000420311.2_Missense_Mutation_p.P449H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	484	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGCGCCAGGGAACAAGGT	0.552																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1450-1452)cCt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							94.0	94.0	94.0					2																	31135138		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31135138G>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1451C>A	2.37:g.31135138G>T	ENSP00000288988:p.Pro484His					GALNT14_ENST00000356174.3_Missense_Mutation_p.P451H|GALNT14_ENST00000420311.2_Missense_Mutation_p.P449H|GALNT14_ENST00000324589.5_Missense_Mutation_p.P489H|GALNT14_ENST00000406653.1_Missense_Mutation_p.P464H|GALNT14_ENST00000486564.1_5'UTR	p.P484H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			14	2090	-	Acute lymphoblastic leukemia(172;0.155)		484			Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1451C>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619710	0.46736	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.04	5.04	0.67666	Ricin B-related lectin (1);Ricin B lectin (3);	0.115461	0.64402	D	0.000012	T	0.68522	0.3010	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.999;1.0	D;D;D;D	0.91635	0.921;0.999;0.981;0.999	T	0.71751	-0.4498	10	0.44086	T	0.13	.	17.1769	0.86844	0.0:0.0:1.0:0.0	.	449;489;484;464	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	H	484;489;464;451;449	ENSP00000288988:P484H;ENSP00000314500:P489H;ENSP00000385435:P464H;ENSP00000348497:P451H;ENSP00000415514:P449H	ENSP00000314500:P489H	P	-	2	0	GALNT14	30988642	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	6.091000	0.71406	2.349000	0.79799	0.563000	0.77884	CCT		0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		7	70	1	0	0.000157383	1	0.00017284	7	70				
DDHD2	23259	broad.mit.edu	37	8	38092032	38092032	+	Missense_Mutation	SNP	C	C	T	rs542604783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38092032C>T	ENST00000397166.2	+	3	866	c.341C>T	c.(340-342)aCg>aTg	p.T114M	DDHD2_ENST00000520272.2_Missense_Mutation_p.T114M	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	114					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGACGATGTACGTGGTTTTAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		16234	0.001		0.0	False		,,,				2504	0.0					ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(340-342)aCg>aTg		DDHD domain containing 2							228.0	229.0	229.0					8																	38092032		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38092032C>T	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.341C>T	8.37:g.38092032C>T	ENSP00000380352:p.Thr114Met					DDHD2_ENST00000520272.2_Missense_Mutation_p.T114M	p.T114M	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		3	866	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	114					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.341C>T	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386739	0.82902	.	.	ENSG00000085788	ENST00000527834;ENST00000397166;ENST00000533100;ENST00000528358;ENST00000529642;ENST00000532222;ENST00000520272	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	L	0.60845	1.875	0.80722	D	1	P;D	0.89917	0.718;1.0	B;D	0.87578	0.251;0.998	T	0.57825	-0.7744	10	0.62326	D	0.03	-16.5827	18.6038	0.91259	0.0:1.0:0.0:0.0	.	114;114	O94830;E9PKE6	DDHD2_HUMAN;.	M	114;114;114;112;18;114;114	ENSP00000432433:T114M;ENSP00000380352:T114M;ENSP00000432678:T114M;ENSP00000433118:T112M;ENSP00000436444:T18M;ENSP00000433578:T114M;ENSP00000429932:T114M	ENSP00000380352:T114M	T	+	2	0	DDHD2	38211189	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.027000	0.76463	2.733000	0.93635	0.655000	0.94253	ACG		0.438	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		66	92	0	0	0	1	0	66	92				
ZNF366	167465	broad.mit.edu	37	5	71739619	71739619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739619C>T	ENST00000318442.5	-	5	2689	c.2199G>A	c.(2197-2199)agG>agA	p.R733R	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	733	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTTCCATTTTCCTCTCCAGTA	0.398																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(2197-2199)agG>agA		zinc finger protein 366							53.0	60.0	57.0					5																	71739619		2197	4299	6496	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739619C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2199G>A	5.37:g.71739619C>T							p.R733R	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2689	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	733					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.2199G>A	CCDS4015.1																																																																																				0.398	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			8	58	0	0	0	1	0	8	58				
ZBTB11	27107	broad.mit.edu	37	3	101383381	101383381	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383381C>A	ENST00000312938.4	-	5	2381		c.e5+1		Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAAATACTTACTGGACATTTG	0.333																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e5+1		zinc finger and BTB domain containing 11							166.0	162.0	163.0					3																	101383381		2203	4300	6503	SO:0001630	splice_region_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383381C>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1800+1G>T	3.37:g.101383381C>A								NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			5	2381	-								Q2NKP9	Splice_Site	SNP	ENST00000312938.4	37		CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789747	0.50102	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3003	0.94141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBTB11	102866071	1.000000	0.71417	0.955000	0.39395	0.522000	0.34438	7.142000	0.77339	2.567000	0.86603	0.561000	0.74099	.		0.333	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	Intron	7	101	1	0	2.7689e-08	1	3.31013e-08	7	101				
NETO1	81832	broad.mit.edu	37	18	70451004	70451004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70451004C>T	ENST00000327305.6	-	7	1434	c.777G>A	c.(775-777)atG>atA	p.M259I	NETO1_ENST00000299430.2_Missense_Mutation_p.M258I|NETO1_ENST00000583169.1_Missense_Mutation_p.M259I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	259	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCGTGCGTAGCATGACATCAT	0.478																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(775-777)atG>atA		neuropilin (NRP) and tolloid (TLL)-like 1							208.0	177.0	187.0					18																	70451004		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70451004C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.777G>A	18.37:g.70451004C>T	ENSP00000313088:p.Met259Ile					NETO1_ENST00000583169.1_Missense_Mutation_p.M259I|NETO1_ENST00000299430.2_Missense_Mutation_p.M258I	p.M259I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1434	-		Esophageal squamous(42;0.129)	259			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.777G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092531	0.56075	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.16897	2.31;2.31	5.27	5.27	0.74061	CUB (5);	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	M	0.65320	2	0.80722	D	1	P;P	0.51240	0.908;0.943	D;P	0.64144	0.922;0.739	T	0.01767	-1.1278	10	0.26408	T	0.33	-20.8932	19.2678	0.93997	0.0:1.0:0.0:0.0	.	258;259	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	I	259;258	ENSP00000313088:M259I;ENSP00000299430:M258I	ENSP00000299430:M258I	M	-	3	0	NETO1	68601984	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	7.776000	0.85560	2.599000	0.87857	0.650000	0.86243	ATG		0.478	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		53	82	0	0	0	1	0	53	82				
LCMT1	51451	broad.mit.edu	37	16	25143737	25143737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25143737G>A	ENST00000399069.3	+	3	375	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	LCMT1_ENST00000380966.4_Missense_Mutation_p.V74I	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	74					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TTTTGCTCGAGTCCATGGTGT	0.493																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(220-222)Gtc>Atc		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						116.0	110.0	112.0					16																	25143737		1962	4140	6102	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25143737G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.220G>A	16.37:g.25143737G>A	ENSP00000382021:p.Val74Ile					LCMT1_ENST00000380966.4_Missense_Mutation_p.V74I	p.V74I	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	3	375	+			74					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.220G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674851	0.47781	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.22743	1.94;1.94	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.77313	2.365	0.80722	D	1	P;D	0.57899	0.845;0.981	P;P	0.54965	0.646;0.765	T	0.26643	-1.0097	10	0.45353	T	0.12	-25.8557	16.9326	0.86195	0.0:0.0:1.0:0.0	.	74;74	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	I	74;74;91	ENSP00000382021:V74I;ENSP00000370353:V74I	ENSP00000370349:V91I	V	+	1	0	LCMT1	25051238	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.729000	0.91490	2.591000	0.87537	0.655000	0.94253	GTC		0.493	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		7	71	0	0	0	1	0	7	71				
DHRS7	51635	broad.mit.edu	37	14	60619860	60619860	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60619860G>A	ENST00000216500.5	-	5	885	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	DHRS7_ENST00000557185.1_Missense_Mutation_p.R144C|DHRS7_ENST00000536410.2_Missense_Mutation_p.R94C|PCNXL4_ENST00000553898.1_Intron|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	144						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACAGAGAACGCTGGGACATT	0.428																																						ENST00000216500.5																			0				endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(430-432)Cgt>Tgt		dehydrogenase/reductase (SDR family) member 7							112.0	99.0	104.0					14																	60619860		2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60619860G>A	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.430C>T	14.37:g.60619860G>A	ENSP00000216500:p.Arg144Cys					DHRS7_ENST00000557185.1_Missense_Mutation_p.R144C|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000536410.2_Missense_Mutation_p.R94C|PCNXL4_ENST00000406949.1_Intron	p.R144C			Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	5	885	-			144					B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.430C>T	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317168	0.60524	.	.	ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	D;D;D	0.87809	-2.3;-2.3;-2.3	5.95	3.16	0.36331	NAD(P)-binding domain (1);	0.096959	0.64402	D	0.000001	D	0.83769	0.5326	M	0.71296	2.17	0.80722	D	1	P;P	0.42337	0.776;0.736	B;B	0.36885	0.235;0.16	T	0.82222	-0.0564	10	0.46703	T	0.11	.	10.8998	0.47045	0.2013:0.0:0.7987:0.0	.	144;144	F8W9Q4;Q9Y394	.;DHRS7_HUMAN	C	144;144;144;94	ENSP00000216500:R144C;ENSP00000451882:R144C;ENSP00000442993:R94C	ENSP00000216500:R144C	R	-	1	0	DHRS7	59689613	1.000000	0.71417	0.797000	0.32132	0.767000	0.43475	5.793000	0.69060	0.865000	0.35603	0.563000	0.77884	CGT		0.428	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		29	42	0	0	0	1	0	29	42				
NSF	4905	broad.mit.edu	37	17	44791260	44791260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44791260G>A	ENST00000398238.4	+	15	1776	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	NSF_ENST00000225282.8_Missense_Mutation_p.A463T|NSF_ENST00000575068.1_Missense_Mutation_p.A552T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	557					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAAAATTGCAGAGGAATC	0.428																																					Ovarian(25;472 742 1472 36813 50223)	ENST00000398238.4																			0				kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1669-1671)Gca>Aca		N-ethylmaleimide-sensitive factor							77.0	72.0	74.0					17																	44791260		1843	4089	5932	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44791260G>A		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1669G>A	17.37:g.44791260G>A	ENSP00000381293:p.Ala557Thr					NSF_ENST00000225282.8_Missense_Mutation_p.A463T|NSF_ENST00000575068.1_Missense_Mutation_p.A552T	p.A557T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	15	1776	+		Melanoma(429;0.203)	557					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1669G>A	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073743	0.76415	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	D;D	0.95447	-3.71;-3.71	5.26	4.18	0.49190	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.262894	0.38272	N	0.001760	D	0.97983	0.9336	H	0.96604	3.85	0.51482	D	0.999922	D	0.54601	0.967	P	0.56514	0.8	D	0.98607	1.0661	10	0.87932	D	0	-27.7438	14.0301	0.64610	0.0:0.0:0.7512:0.2488	.	557	P46459	NSF_HUMAN	T	557;463	ENSP00000381293:A557T;ENSP00000225282:A463T	ENSP00000225282:A463T	A	+	1	0	NSF	42146443	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	1.782000	0.38654	2.615000	0.88500	0.591000	0.81541	GCA		0.428	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		9	26	0	0	0	1	0	9	26				
RPL3L	6123	broad.mit.edu	37	16	1991332	1991332	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1991332G>A	ENST00000268661.7	-	0	2182				MSRB1_ENST00000564908.1_Missense_Mutation_p.P44S|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000399753.2_Missense_Mutation_p.P44S|MSRB1_ENST00000361871.3_Missense_Mutation_p.P44S	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGAACGCCGGCCATGGAGAC	0.592																																						ENST00000361871.3																			0											c.(130-132)Ccg>Tcg		methionine sulfoxide reductase B1	L-Methionine(DB00134)						48.0	51.0	50.0					16																	1991332		2065	4190	6255	SO:0001628	intergenic_variant	51734				protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding	g.chr16:1991332G>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991332G>A						MSRB1_ENST00000399753.2_Missense_Mutation_p.P44S|MSRB1_ENST00000564908.1_Missense_Mutation_p.P44S|MSRB1_ENST00000489198.1_5'UTR	p.P44S	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN			2	299	-			44						Missense_Mutation	SNP	ENST00000268661.7	37	c.130C>T	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489942	0.64074	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	D;D	0.88277	-2.36;-2.36	4.74	4.74	0.60224	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	H	0.99074	4.42	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	D	0.99032	1.0821	10	0.87932	D	0	-8.3864	16.297	0.82782	0.0:0.0:1.0:0.0	.	44	Q9NZV6	MSRB1_HUMAN	S	44	ENSP00000355084:P44S;ENSP00000382657:P44S	ENSP00000355084:P44S	P	-	1	0	SEPX1	1931333	1.000000	0.71417	0.982000	0.44146	0.137000	0.21094	7.336000	0.79245	2.190000	0.69967	0.655000	0.94253	CCG		0.592	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		7	28	0	0	0	1	0	7	28				
ANO5	203859	broad.mit.edu	37	11	22261165	22261165	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22261165C>T	ENST00000324559.8	+	9	1130	c.813C>T	c.(811-813)taC>taT	p.Y271Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	271					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGAAAGATACACACTTCACC	0.403																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(811-813)taC>taT		anoctamin 5							143.0	146.0	145.0					11																	22261165		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22261165C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.813C>T	11.37:g.22261165C>T							p.Y271Y	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			9	1130	+			271						Silent	SNP	ENST00000324559.8	37	c.813C>T	CCDS31444.1																																																																																				0.403	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		7	160	0	0	0	1	0	7	160				
CLCNKA	1187	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353844C>A	ENST00000331433.4	+	8	714	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CLCNKA_ENST00000420078.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000375692.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S189Y			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	232					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(694-696)tCt>tAt		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						96.0	99.0	98.0					1																	16353844		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353844C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.695C>A	1.37:g.16353844C>A	ENSP00000332771:p.Ser232Tyr					CLCNKA_ENST00000420078.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S189Y|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S232Y	p.S232Y			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	9	823	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	232					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.695C>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268620	0.80469	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	3.02	3.02	0.34903	Chloride channel, core (2);	0.180853	0.47455	D	0.000223	D	0.95778	0.8626	M	0.64997	1.995	0.49798	D	0.99982	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.62649	0.905;0.905;0.905	D	0.96041	0.9024	10	0.87932	D	0	.	13.4842	0.61355	0.0:1.0:0.0:0.0	.	189;232;232	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	Y	232;232;189;232	ENSP00000364844:S232Y;ENSP00000410353:S232Y;ENSP00000414445:S189Y;ENSP00000332771:S232Y	ENSP00000332771:S232Y	S	+	2	0	CLCNKA	16226431	1.000000	0.71417	0.972000	0.41901	0.963000	0.63663	7.417000	0.80156	1.674000	0.50907	0.313000	0.20887	TCT		0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			31	114	1	0	1.45844e-13	1	1.85123e-13	31	114				
ZNF480	147657	broad.mit.edu	37	19	52825153	52825153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52825153G>T	ENST00000595962.1	+	5	716	c.650G>T	c.(649-651)aGc>aTc	p.S217I	ZNF480_ENST00000335090.6_Missense_Mutation_p.S140I|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.S174I|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTATCTTCCAGCCTTACTAAA	0.363																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(649-651)aGc>aTc		zinc finger protein 480							67.0	70.0	69.0					19																	52825153		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825153G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.650G>T	19.37:g.52825153G>T	ENSP00000471754:p.Ser217Ile					CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S140I|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.S174I	p.S217I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	716	+			217					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.650G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697979	0.30142	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.20069	2.1;2.1;2.1	1.99	-2.77	0.05877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.41573	1.285	0.09310	N	1	P;D	0.71674	0.728;0.998	B;D	0.64410	0.236;0.925	T	0.15009	-1.0452	9	0.23891	T	0.37	.	2.7981	0.05407	0.4772:0.2816:0.2412:0.0	.	174;217	F8WEZ9;Q8WV37	.;ZN480_HUMAN	I	217;174;140	ENSP00000417424:S217I;ENSP00000334164:S174I;ENSP00000335670:S140I	ENSP00000334164:S174I	S	+	2	0	ZNF480	57516965	.	.	0.000000	0.03702	0.080000	0.17528	.	.	-0.685000	0.05177	0.467000	0.42956	AGC		0.363	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		24	54	1	0	2.21704e-12	1	2.7869e-12	24	54				
CRB2	286204	broad.mit.edu	37	9	126125435	126125435	+	Missense_Mutation	SNP	G	G	A	rs549870240		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125435G>A	ENST00000373631.3	+	2	387	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CRB2_ENST00000359999.3_Missense_Mutation_p.R129H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	129	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGCCGATCGCTACGAGTGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18007	0.0		0.0	False		,,,				2504	0.001					ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(385-387)cGc>cAc		crumbs homolog 2 (Drosophila)							29.0	25.0	26.0					9																	126125435		2201	4299	6500	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126125435G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.386G>A	9.37:g.126125435G>A	ENSP00000362734:p.Arg129His					CRB2_ENST00000359999.3_Missense_Mutation_p.R129H	p.R129H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			2	387	+			129			EGF-like 2; calcium-binding (Potential).		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.386G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088581	0.36855	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.88431	-2.38;-2.38	4.89	2.0	0.26442	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.388047	0.19048	N	0.124124	T	0.81153	0.4763	L	0.38649	1.16	0.80722	D	1	B;B	0.18741	0.016;0.03	B;B	0.18263	0.003;0.021	T	0.70590	-0.4830	10	0.39692	T	0.17	.	6.8392	0.23953	0.3875:0.0:0.6125:0.0	.	129;129	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	H	129	ENSP00000353092:R129H;ENSP00000362734:R129H	ENSP00000353092:R129H	R	+	2	0	CRB2	125165256	0.025000	0.19082	0.864000	0.33941	0.993000	0.82548	0.642000	0.24735	0.249000	0.21456	0.549000	0.68633	CGC		0.642	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	7	0	0	0	1	0	5	7				
TFCP2L1	29842	broad.mit.edu	37	2	121995414	121995414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121995414C>T	ENST00000263707.5	-	9	970	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	291					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCGGGTGGGTCGGAGAGGCGT	0.637																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(871-873)ccG>ccA		transcription factor CP2-like 1							44.0	47.0	46.0					2																	121995414		2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121995414C>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.873G>A	2.37:g.121995414C>T							p.P291P	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			9	970	-	Renal(3;0.01)		291					Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.873G>A	CCDS2134.1																																																																																				0.637	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		12	21	0	0	0	1	0	12	21				
PPP1R3C	5507	broad.mit.edu	37	10	93390465	93390465	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93390465A>G	ENST00000238994.5	-	2	257	c.173T>C	c.(172-174)cTg>cCg	p.L58P		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACATGATTTCAGGGGCTTTAA	0.448																																						ENST00000238994.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(172-174)cTg>cCg		protein phosphatase 1, regulatory subunit 3C							165.0	164.0	164.0					10																	93390465		2203	4300	6503	SO:0001583	missense	5507						protein serine/threonine phosphatase activity	g.chr10:93390465A>G	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.173T>C	10.37:g.93390465A>G	ENSP00000238994:p.Leu58Pro						p.L58P	NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN			2	257	-		Colorectal(252;0.235)	58						Missense_Mutation	SNP	ENST00000238994.5	37	c.173T>C	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928332	0.52759	.	.	ENSG00000119938	ENST00000238994;ENST00000438999	T	0.55052	0.54	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74934	-0.3495	10	0.54805	T	0.06	-18.2866	16.1354	0.81481	1.0:0.0:0.0:0.0	.	58	Q9UQK1	PPR3C_HUMAN	P	58	ENSP00000238994:L58P	ENSP00000238994:L58P	L	-	2	0	PPP1R3C	93380445	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	7.329000	0.79170	2.207000	0.71202	0.533000	0.62120	CTG		0.448	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		12	173	0	0	0	1	0	12	173				
SV2C	22987	broad.mit.edu	37	5	75427914	75427914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75427914G>A	ENST00000502798.2	+	2	781	c.339G>A	c.(337-339)aaG>aaA	p.K113K	SV2C_ENST00000322285.7_Silent_p.K113K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	113					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGCAGCCCAAGGGCGATGAGT	0.542																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(337-339)aaG>aaA		synaptic vesicle glycoprotein 2C							89.0	99.0	95.0					5																	75427914		2074	4217	6291	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427914G>A	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.339G>A	5.37:g.75427914G>A						SV2C_ENST00000322285.7_Silent_p.K113K	p.K113K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	781	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	113					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.339G>A	CCDS43331.1																																																																																				0.542	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			7	25	0	0	0	1	0	7	25				
PRPF40B	25766	broad.mit.edu	37	12	50037770	50037770	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50037770G>A	ENST00000380281.1	+	24	2570	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R	PRPF40B_ENST00000261897.1_Missense_Mutation_p.G823R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G857R|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	836					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCCAGGCTTTGGAATCAAGAA	0.572																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2467-2469)Gga>Aga		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							70.0	77.0	75.0					12																	50037770		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037770G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2506G>A	12.37:g.50037770G>A	ENSP00000369634:p.Gly836Arg					FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.G836R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G857R	p.G823R			Q6NWY9	PR40B_HUMAN			24	3018	+			836					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2467G>A		.	.	.	.	.	.	.	.	.	.	G	14.15	2.449231	0.43531	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.20881	2.05;2.04	5.39	3.54	0.40534	.	0.258590	0.33180	N	0.005195	T	0.12092	0.0294	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12319	-1.0552	10	0.22706	T	0.39	-4.2032	8.7805	0.34789	0.2388:0.0:0.7612:0.0	.	836;823	Q6NWY9;Q6NWY9-2	PR40B_HUMAN;.	R	823;836	ENSP00000261897:G823R;ENSP00000369634:G836R	ENSP00000261897:G823R	G	+	1	0	PRPF40B	48324037	0.238000	0.23825	0.975000	0.42487	0.976000	0.68499	0.375000	0.20518	0.754000	0.32968	0.561000	0.74099	GGA		0.572	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		4	70	0	0	0	1	0	4	70				
UBXN6	80700	broad.mit.edu	37	19	4452490	4452490	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4452490C>A	ENST00000301281.6	-	4	437		c.e4-1		UBXN6_ENST00000394765.3_Splice_Site|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTCAGATACCTGGGGCGGTG	0.647																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.e4-1		UBX domain protein 6							52.0	46.0	48.0					19																	4452490		2203	4300	6503	SO:0001630	splice_region_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4452490C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.313-1G>T	19.37:g.4452490C>A						UBXN6_ENST00000394765.3_Splice_Site		NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			4	437	-								D6W626|Q96AH1|Q96IK9|Q9BZV0	Splice_Site	SNP	ENST00000301281.6	37		CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933354	0.34096	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6441	0.56725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBXN6	4403490	0.999000	0.42202	0.038000	0.18304	0.022000	0.10575	4.998000	0.63927	2.116000	0.64780	0.484000	0.47621	.		0.647	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241	Intron	6	10	1	0	0.00198382	1	0.00210581	6	10				
LRRC31	79782	broad.mit.edu	37	3	169574164	169574164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574164T>C	ENST00000316428.5	-	5	840	c.783A>G	c.(781-783)ttA>ttG	p.L261L	LRRC31_ENST00000264676.5_Silent_p.L205L|LRRC31_ENST00000523069.1_Silent_p.L261L|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACATGAATGTAACTTCAGTA	0.323																																						ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(781-783)ttA>ttG		leucine rich repeat containing 31							130.0	121.0	124.0					3																	169574164		1856	4094	5950	SO:0001819	synonymous_variant	79782							g.chr3:169574164T>C	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.783A>G	3.37:g.169574164T>C						LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.L205L|LRRC31_ENST00000523069.1_Silent_p.L261L	p.L261L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		5	840	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		261					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Silent	SNP	ENST00000316428.5	37	c.783A>G	CCDS43167.1																																																																																				0.323	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		10	80	0	0	0	1	0	10	80				
TIA1	7072	broad.mit.edu	37	2	70454956	70454956	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70454956T>G	ENST00000433529.2	-	6	521		c.e6-2		TIA1_ENST00000415783.2_Splice_Site|TIA1_ENST00000416149.2_Splice_Site|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Splice_Site|TIA1_ENST00000445587.1_Splice_Site	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGAAATGATCTTATAAGGGGA	0.318																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.e6-2		TIA1 cytotoxic granule-associated RNA binding protein							74.0	77.0	76.0					2																	70454956		2203	4296	6499	SO:0001630	splice_region_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70454956T>G		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.311-2A>C	2.37:g.70454956T>G						TIA1_ENST00000445587.1_Splice_Site|TIA1_ENST00000282574.4_Splice_Site|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Splice_Site|TIA1_ENST00000415783.2_Splice_Site		NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			6	521	-								Q53SS9	Splice_Site	SNP	ENST00000433529.2	37		CCDS1901.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327658	0.41197	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587;ENST00000416149;ENST00000361692	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8579	0.57897	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIA1	70308460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.764000	0.85297	2.135000	0.66039	0.528000	0.53228	.		0.318	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037	Intron	33	56	0	0	0	1	0	33	56				
KHDC1	80759	broad.mit.edu	37	6	73951801	73951801	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73951801T>C	ENST00000370384.3	-	4	991	c.491A>G	c.(490-492)cAg>cGg	p.Q164R	RP11-257K9.8_ENST00000423730.3_Missense_Mutation_p.Q91R|KHDC1_ENST00000257765.5_Missense_Mutation_p.Q91R	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	164						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						ATAGGAGTCCTGGCTCCCCAC	0.517																																						ENST00000423730.3																			0											c.(271-273)cAg>cGg									68.0	70.0	69.0					6																	73951801		2038	4196	6234	SO:0001583	missense	0							g.chr6:73951801T>C		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.491A>G	6.37:g.73951801T>C	ENSP00000359411:p.Gln164Arg					KHDC1_ENST00000257765.5_Missense_Mutation_p.Q91R|KHDC1_ENST00000370384.3_Missense_Mutation_p.Q164R	p.Q91R							3	707	-								Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	c.272A>G	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	T	8.368	0.834720	0.16820	.	.	ENSG00000256980;ENSG00000135314;ENSG00000135314;ENSG00000135314	ENST00000370385;ENST00000257765;ENST00000370384;ENST00000433730	T	0.31769	1.48	1.93	-3.86	0.04230	.	.	.	.	.	T	0.05868	0.0153	L	0.43152	1.355	0.09310	N	1	P	0.39424	0.673	B	0.41236	0.351	T	0.22487	-1.0215	9	0.11182	T	0.66	.	1.0101	0.01495	0.1655:0.2813:0.3315:0.2216	.	164	Q4VXA5	KHDC1_HUMAN	R	91;91;164;91	ENSP00000359411:Q164R	ENSP00000257765:Q91R	Q	-	2	0	RP11-257K9.7;KHDC1	74008522	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-1.663000	0.01968	-2.082000	0.00868	-0.466000	0.05196	CAG		0.517	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		8	13	0	0	0	1	0	8	13				
SQRDL	58472	broad.mit.edu	37	15	45981348	45981348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45981348G>T	ENST00000260324.7	+	9	1614	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.E410*	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	410					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCAAAGCAAAGAGCGCCTTTC	0.473																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(1228-1230)Gag>Tag		sulfide quinone reductase-like (yeast)							131.0	124.0	127.0					15																	45981348		2198	4297	6495	SO:0001587	stop_gained	58472						oxidoreductase activity	g.chr15:45981348G>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1228G>T	15.37:g.45981348G>T	ENSP00000260324:p.Glu410*					SQRDL_ENST00000568606.1_Nonsense_Mutation_p.E410*	p.E410*	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	9	1614	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	410					Q9UQM8	Nonsense_Mutation	SNP	ENST00000260324.7	37	c.1228G>T	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	G	40	8.530487	0.98850	.	.	ENSG00000137767	ENST00000260324	.	.	.	5.7	4.78	0.61160	.	0.092104	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.431	0.75099	0.0:0.1396:0.8604:0.0	.	.	.	.	X	410	.	ENSP00000260324:E410X	E	+	1	0	SQRDL	43768640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.738000	0.74822	1.373000	0.46208	0.655000	0.94253	GAG		0.473	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			37	60	1	0	1.836e-18	1	2.39396e-18	37	60				
DNAH10	196385	broad.mit.edu	37	12	124332541	124332541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124332541G>A	ENST00000409039.3	+	32	5519	c.5494G>A	c.(5494-5496)Ggc>Agc	p.G1832S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1832	AAA 1. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCCCCGCCGGCCCAGCAGG	0.537																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5494-5496)Ggc>Agc		dynein, axonemal, heavy chain 10							83.0	90.0	88.0					12																	124332541		1944	4158	6102	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332541G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5494G>A	12.37:g.124332541G>A	ENSP00000386770:p.Gly1832Ser						p.G1832S	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5519	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1832			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5494G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630021	0.87660	.	.	ENSG00000197653	ENST00000409039	D	0.93547	-3.24	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	D	0.98140	0.9386	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	.	19.0379	0.92986	0.0:0.0:1.0:0.0	.	1832	Q8IVF4	DYH10_HUMAN	S	1832	ENSP00000386770:G1832S	ENSP00000386770:G1832S	G	+	1	0	DNAH10	122898494	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	9.821000	0.99360	2.598000	0.87819	0.555000	0.69702	GGC		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			33	73	0	0	0	1	0	33	73				
LAMA2	3908	broad.mit.edu	37	6	129724975	129724975	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129724975T>C	ENST00000421865.2	+	40	5785	c.5736T>C	c.(5734-5736)gaT>gaC	p.D1912D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1912	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATCCTTGATGAGGCTAAAA	0.398																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(5734-5736)gaT>gaC		laminin, alpha 2							84.0	84.0	84.0					6																	129724975		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129724975T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5736T>C	6.37:g.129724975T>C							p.D1912D	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	40	5785	+			1912			Domain II and I.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.5736T>C	CCDS5138.1																																																																																				0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			24	50	0	0	0	1	0	24	50				
ZNF462	58499	broad.mit.edu	37	9	109686747	109686747	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109686747A>G	ENST00000277225.5	+	3	843	c.554A>G	c.(553-555)cAc>cGc	p.H185R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H185R|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	185					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGATGTATCACAAAAACAAT	0.488																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(553-555)cAc>cGc		zinc finger protein 462							51.0	48.0	49.0					9																	109686747		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109686747A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.554A>G	9.37:g.109686747A>G	ENSP00000277225:p.His185Arg					ZNF462_ENST00000457913.1_Missense_Mutation_p.H185R	p.H185R			Q96JM2	ZN462_HUMAN			3	843	+			185					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.554A>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.719812	0.48728	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.19394	2.15;2.71	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.03483	-1.1032	9	.	.	.	.	16.1728	0.81831	1.0:0.0:0.0:0.0	.	185;185	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	R	185	ENSP00000277225:H185R;ENSP00000414570:H185R	.	H	+	2	0	ZNF462	108726568	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.867000	0.92314	2.228000	0.72767	0.533000	0.62120	CAC		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		16	51	0	0	0	1	0	16	51				
RPS19	6223	broad.mit.edu	37	19	42365246	42365246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42365246C>A	ENST00000598742.1	+	3	509	c.137C>A	c.(136-138)gCt>gAt	p.A46D	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.A46D	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	46					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AAAGAGCTTGCTCCCTACGAT	0.537									Diamond-Blackfan Anemia																													ENST00000598742.1																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(136-138)gCt>gAt		ribosomal protein S19							99.0	83.0	89.0					19																	42365246		2203	4300	6503	SO:0001583	missense	6223	Diamond-Blackfan Anemia	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr19:42365246C>A	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.137C>A	19.37:g.42365246C>A	ENSP00000470972:p.Ala46Asp					RPS19_ENST00000593863.1_Missense_Mutation_p.A46D|RPS19_ENST00000221975.2_5'UTR	p.A46D	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN			3	509	+			46						Missense_Mutation	SNP	ENST00000598742.1	37	c.137C>A	CCDS12588.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203363	0.95033	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.57	4.57	0.56435	.	0.053621	0.64402	D	0.000001	D	0.84570	0.5501	M	0.91768	3.24	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.88185	0.2873	9	0.72032	D	0.01	-5.1463	15.6414	0.77006	0.0:1.0:0.0:0.0	.	46	P39019	RS19_HUMAN	D	46	.	ENSP00000221975:A46D	A	+	2	0	RPS19	47057086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.007000	0.76335	2.477000	0.83638	0.655000	0.94253	GCT		0.537	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463049.1	NM_001022		4	39	1	0	0.217242	1	0.218821	4	39				
CNKSR2	22866	broad.mit.edu	37	X	21579607	21579607	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21579607C>A	ENST00000379510.3	+	12	1358	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y	CNKSR2_ENST00000543067.1_Missense_Mutation_p.S392Y|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S441Y|CNKSR2_ENST00000425654.2_Intron|CNKSR2_ENST00000485012.1_Intron	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	441	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CGACCTATATCTATGCCAGTG	0.383																																						ENST00000379510.3																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1321-1323)tCt>tAt		connector enhancer of kinase suppressor of Ras 2							268.0	261.0	263.0					X																	21579607		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21579607C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1322C>A	X.37:g.21579607C>A	ENSP00000368824:p.Ser441Tyr					CNKSR2_ENST00000543067.1_Missense_Mutation_p.S392Y|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S441Y|CNKSR2_ENST00000425654.2_Intron|CNKSR2_ENST00000485012.1_Intron	p.S441Y	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN			12	1358	+			441			DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1322C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374383	0.82573	.	.	ENSG00000149970	ENST00000543067;ENST00000279451;ENST00000379510	T;T;T	0.39056	1.1;1.14;1.46	6.06	6.06	0.98353	Connector enhancer of kinase suppressor of ras 2 (1);	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.69632	-0.5093	10	0.87932	D	0	-2.4674	19.5004	0.95091	0.0:1.0:0.0:0.0	.	392;441	B4DGR4;Q8WXI2	.;CNKR2_HUMAN	Y	392;441;441	ENSP00000444633:S392Y;ENSP00000279451:S441Y;ENSP00000368824:S441Y	ENSP00000279451:S441Y	S	+	2	0	CNKSR2	21489528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.063000	0.76714	2.560000	0.86352	0.594000	0.82650	TCT		0.383	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		9	330	1	0	9.70103e-10	1	1.18443e-09	9	330				
SLC13A2	9058	broad.mit.edu	37	17	26817589	26817589	+	Missense_Mutation	SNP	G	G	A	rs11568463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26817589G>A	ENST00000314669.5	+	3	769	c.349G>A	c.(349-351)Gtt>Att	p.V117I	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V74I|SLC13A2_ENST00000444914.3_Missense_Mutation_p.V166I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V46I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	117					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTCCTCATCGTTGGGGTGCG	0.607																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)Gtt>Att		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						120.0	92.0	101.0					17																	26817589		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817589G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.349G>A	17.37:g.26817589G>A	ENSP00000316202:p.Val117Ile					SLC13A2_ENST00000314669.5_Missense_Mutation_p.V117I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V74I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V46I	p.V166I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	3	916	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		117					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.496G>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	5.727	0.318550	0.10845	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.02837	4.14;4.14;4.14;4.14	5.58	0.962	0.19643	.	0.492649	0.24206	N	0.040571	T	0.02156	0.0067	N	0.17248	0.465	0.09310	N	1	B;B;B;B;B	0.33528	0.007;0.297;0.188;0.075;0.416	B;B;B;B;B	0.34824	0.009;0.177;0.08;0.026;0.19	T	0.48043	-0.9069	10	0.33141	T	0.24	-22.1182	10.2391	0.43301	0.5496:0.0:0.4504:0.0	rs11568463;rs45521435;rs11568463	74;166;73;46;117	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	I	117;166;74;73;46	ENSP00000316202:V117I;ENSP00000392411:V166I;ENSP00000441935:V74I;ENSP00000440802:V46I	ENSP00000316202:V117I	V	+	1	0	SLC13A2	23841716	0.585000	0.26774	0.002000	0.10522	0.068000	0.16541	0.244000	0.18124	-0.109000	0.12044	-0.312000	0.09012	GTT		0.607	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		21	33	0	0	0	1	0	21	33				
RIMS2	9699	broad.mit.edu	37	8	104897549	104897549	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104897549G>T	ENST00000436393.2	+	2	297	c.56G>T	c.(55-57)aGa>aTa	p.R19I	RIMS2_ENST00000507740.1_Missense_Mutation_p.R49I|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.R49I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R241I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	272					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGTGTCCAGAGATCAGAAT	0.388										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(145-147)aGa>aTa		regulating synaptic membrane exocytosis 2							57.0	50.0	53.0					8																	104897549		1864	4097	5961	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897549G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.56G>T	8.37:g.104897549G>T	ENSP00000390665:p.Arg19Ile	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.R241I|RIMS2_ENST00000436393.2_Missense_Mutation_p.R19I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R49I|RIMS2_ENST00000522174.1_3'UTR	p.R49I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	382	+			272			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.146G>T		.	.	.	.	.	.	.	.	.	.	G	24.8	4.574657	0.86542	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.65;1.9;1.91;1.87;2.23	5.31	5.31	0.75309	.	.	.	.	.	T	0.58793	0.2147	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.71674	0.989;0.998;0.998;0.998;0.997	P;D;D;D;D	0.79108	0.885;0.988;0.931;0.992;0.933	T	0.60954	-0.7160	9	0.72032	D	0.01	.	18.9666	0.92698	0.0:0.0:1.0:0.0	.	272;19;49;49;241	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	I	241;272;241;272;49;49;49;49;19	ENSP00000427018:R241I;ENSP00000384892:R241I;ENSP00000425205:R49I;ENSP00000262231:R49I;ENSP00000423559:R49I;ENSP00000386228:R49I;ENSP00000390665:R19I	ENSP00000262231:R49I	R	+	2	0	RIMS2	104966725	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.221000	0.95188	2.474000	0.83562	0.460000	0.39030	AGA		0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		11	23	1	0	2.68362e-12	1	3.37045e-12	11	23				
OR5L2	26338	broad.mit.edu	37	11	55595089	55595089	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55595089A>G	ENST00000378397.1	+	1	395	c.395A>G	c.(394-396)tAc>tGc	p.Y132C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCCCTGCTGTACATGGTGACC	0.527										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(394-396)tAc>tGc		olfactory receptor, family 5, subfamily L, member 2							207.0	180.0	189.0					11																	55595089		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595089A>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.395A>G	11.37:g.55595089A>G	ENSP00000367650:p.Tyr132Cys	HNSCC(27;0.073)					p.Y132C	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	395	+		all_epithelial(135;0.208)	132					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.395A>G	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	18.48	3.632843	0.67015	.	.	ENSG00000205030	ENST00000378397	T	0.33865	1.39	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000335	T	0.70727	0.3257	H	0.95328	3.655	0.49483	D	0.999792	D	0.89917	1.0	D	0.91635	0.999	T	0.80551	-0.1332	10	0.87932	D	0	-46.7348	14.3026	0.66362	1.0:0.0:0.0:0.0	.	132	Q8NGL0	OR5L2_HUMAN	C	132	ENSP00000367650:Y132C	ENSP00000367650:Y132C	Y	+	2	0	OR5L2	55351665	1.000000	0.71417	0.560000	0.28344	0.630000	0.37929	8.930000	0.92872	2.112000	0.64535	0.509000	0.49947	TAC		0.527	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		56	146	0	0	0	1	0	56	146				
PCM1	5108	broad.mit.edu	37	8	17810546	17810546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17810546G>A	ENST00000519253.1	+	9	1390	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	PCM1_ENST00000325083.8_Missense_Mutation_p.S380N|PCM1_ENST00000524226.1_Missense_Mutation_p.S380N|PCM1_ENST00000518537.1_Missense_Mutation_p.S419N			Q15154	PCM1_HUMAN	pericentriolar material 1	380					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTCCCAGAGCAGGAAACCA	0.368			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(1138-1140)aGc>aAc		pericentriolar material 1							54.0	51.0	52.0					8																	17810546		1830	4088	5918	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17810546G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1139G>A	8.37:g.17810546G>A	ENSP00000431099:p.Ser380Asn					PCM1_ENST00000519253.1_Missense_Mutation_p.S380N|PCM1_ENST00000524226.1_Missense_Mutation_p.S380N|PCM1_ENST00000518537.1_Missense_Mutation_p.S419N	p.S380N	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	9	1578	+			380					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1139G>A		.	.	.	.	.	.	.	.	.	.	G	16.90	3.251211	0.59212	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.32023	3.24;2.41;1.76;1.47;3.24;3.0	5.28	4.4	0.53042	.	0.214191	0.56097	D	0.000022	T	0.39860	0.1094	M	0.64997	1.995	0.80722	D	1	P;B;P;P	0.49783	0.928;0.204;0.787;0.928	P;B;B;P	0.47573	0.55;0.165;0.372;0.55	T	0.36016	-0.9765	10	0.49607	T	0.09	-4.897	15.4245	0.75041	0.0:0.1394:0.8606:0.0	.	380;419;380;380	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	N	380;419;419;419;380;380;380	ENSP00000327077:S380N;ENSP00000428131:S419N;ENSP00000428123:S419N;ENSP00000429941:S380N;ENSP00000431099:S380N;ENSP00000430521:S380N	ENSP00000327077:S380N	S	+	2	0	PCM1	17854826	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.979000	0.63806	1.369000	0.46134	0.585000	0.79938	AGC		0.368	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		5	12	0	0	0	1	0	5	12				
POLR1A	25885	broad.mit.edu	37	2	86255105	86255105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86255105C>T	ENST00000263857.6	-	33	5343	c.4965G>A	c.(4963-4965)aaG>aaA	p.K1655K	POLR1A_ENST00000409681.1_Silent_p.K1594K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1655					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GATTCAGTGGCTTGTAAACAC	0.507																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4963-4965)aaG>aaA		polymerase (RNA) I polypeptide A, 194kDa							94.0	109.0	104.0					2																	86255105		2016	4178	6194	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86255105C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4965G>A	2.37:g.86255105C>T						POLR1A_ENST00000409681.1_Silent_p.K1594K	p.K1655K			O95602	RPA1_HUMAN			33	5343	-			1655					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.4965G>A	CCDS42706.1																																																																																				0.507	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		25	39	0	0	0	1	0	25	39				
CDH12	1010	broad.mit.edu	37	5	21854856	21854856	+	Silent	SNP	C	C	T	rs545844887		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21854856C>T	ENST00000382254.1	-	7	1656	c.570G>A	c.(568-570)ccG>ccA	p.P190P	CDH12_ENST00000504376.2_Silent_p.P190P|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCCATAGGTCGGGTCATCTG	0.403										HNSCC(59;0.17)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0					ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(568-570)ccG>ccA		cadherin 12, type 2 (N-cadherin 2)							118.0	112.0	114.0					5																	21854856		2203	4299	6502	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854856C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.570G>A	5.37:g.21854856C>T		HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Silent_p.P190P	p.P190P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			7	1656	-			190			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.570G>A	CCDS3890.1																																																																																				0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		28	37	0	0	0	1	0	28	37				
WFS1	7466	broad.mit.edu	37	4	6303631	6303631	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6303631C>A	ENST00000226760.1	+	8	2279	c.2109C>A	c.(2107-2109)cgC>cgA	p.R703R	WFS1_ENST00000503569.1_Silent_p.R703R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	703					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACCGGCCGCTTCAAGTACG	0.652																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2107-2109)cgC>cgA		Wolfram syndrome 1 (wolframin)							40.0	37.0	38.0					4																	6303631		2203	4299	6502	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303631C>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2109C>A	4.37:g.6303631C>A						WFS1_ENST00000503569.1_Silent_p.R703R	p.R703R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2279	+			703					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.2109C>A	CCDS3386.1																																																																																				0.652	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			10	18	1	0	1.58986e-06	1	1.84011e-06	10	18				
PRDM2	7799	broad.mit.edu	37	1	14106983	14106983	+	Missense_Mutation	SNP	G	G	A	rs201531715	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14106983G>A	ENST00000235372.7	+	8	3549	c.2693G>A	c.(2692-2694)gGc>gAc	p.G898D	PRDM2_ENST00000343137.4_Missense_Mutation_p.G697D|PRDM2_ENST00000413440.1_Missense_Mutation_p.G697D|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G898D|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	898					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAATATAATGGCATCGATTTA	0.478													G|||	4	0.000798722	0.0	0.0058	5008	,	,		19859	0.0		0.0	False		,,,				2504	0.0					ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2692-2694)gGc>gAc		PR domain containing 2, with ZNF domain							76.0	73.0	74.0					1																	14106983		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106983G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2693G>A	1.37:g.14106983G>A	ENSP00000235372:p.Gly898Asp					PRDM2_ENST00000343137.4_Missense_Mutation_p.G697D|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G898D|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.G697D	p.G898D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3549	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	898					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2693G>A	CCDS150.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.50	2.256627	0.39896	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02015	4.61;4.5;4.5;4.5	5.8	3.93	0.45458	.	0.104424	0.64402	N	0.000003	T	0.08891	0.0220	M	0.71581	2.175	0.45261	D	0.998264	B;D;D	0.89917	0.034;1.0;1.0	B;D;D	0.81914	0.018;0.989;0.995	T	0.01739	-1.1284	10	0.72032	D	0.01	.	5.7034	0.17895	0.0741:0.139:0.6429:0.1441	.	756;898;898	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	D	898;898;898;697;697	ENSP00000235372:G898D;ENSP00000312352:G898D;ENSP00000411103:G697D;ENSP00000341621:G697D	ENSP00000235372:G898D	G	+	2	0	PRDM2	13979570	1.000000	0.71417	0.845000	0.33349	0.970000	0.65996	7.423000	0.80229	0.789000	0.33779	-0.181000	0.13052	GGC		0.478	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		32	62	0	0	0	1	0	32	62				
C3AR1	719	broad.mit.edu	37	12	8212381	8212381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212381C>T	ENST00000307637.4	-	2	604	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	134					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCCTACATTGCGATGATTCTG	0.478																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(400-402)cGc>cAc		complement component 3a receptor 1							226.0	181.0	196.0					12																	8212381		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212381C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.401G>A	12.37:g.8212381C>T	ENSP00000302079:p.Arg134His						p.R134H	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	604	-			134					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.401G>A	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775549	0.90195	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.39787	1.06;1.06	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.72045	0.3412	M	0.90252	3.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.77632	-0.2515	10	0.87932	D	0	.	17.4698	0.87642	0.0:1.0:0.0:0.0	.	134	Q16581	C3AR_HUMAN	H	134	ENSP00000302079:R134H;ENSP00000444500:R134H	ENSP00000302079:R134H	R	-	2	0	C3AR1	8103648	1.000000	0.71417	0.993000	0.49108	0.600000	0.36913	7.747000	0.85070	2.713000	0.92767	0.655000	0.94253	CGC		0.478	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			26	34	0	0	0	1	0	26	34				
CEACAM7	1087	broad.mit.edu	37	19	42187995	42187995	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42187995C>T	ENST00000006724.3	-	3	629		c.e3-1		CEACAM7_ENST00000401731.1_Splice_Site|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_Splice_Site	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7							anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGTGGCTCCGCTGTGCAGATA	0.512																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.e3-1		carcinoembryonic antigen-related cell adhesion molecule 7							115.0	117.0	116.0					19																	42187995		2203	4300	6503	SO:0001630	splice_region_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187995C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.428-1G>A	19.37:g.42187995C>T						CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Splice_Site|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_Splice_Site		NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	629	-								A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Splice_Site	SNP	ENST00000006724.3	37		CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	5.427	0.263932	0.10294	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	.	.	.	2.83	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9965	0.19497	0.0:0.8363:0.0:0.1637	.	.	.	.	.	-1	.	.	.	-	.	.	CEACAM7	46879835	0.915000	0.31059	0.011000	0.14972	0.020000	0.10135	1.794000	0.38774	0.300000	0.22699	0.313000	0.20887	.		0.512	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	Intron	31	62	0	0	0	1	0	31	62				
DAPK2	23604	broad.mit.edu	37	15	64275811	64275811	+	Missense_Mutation	SNP	G	G	A	rs542492420		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64275811G>A	ENST00000457488.1	-	3	265	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Missense_Mutation_p.R79W|DAPK2_ENST00000261891.3_Missense_Mutation_p.R79W	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGCACCTGCCGCAGGATGCTC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.001					ENST00000261891.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11						c.(235-237)Cgg>Tgg		death-associated protein kinase 2							72.0	69.0	70.0					15																	64275811		2203	4300	6503	SO:0001583	missense	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64275811G>A	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.235C>T	15.37:g.64275811G>A	ENSP00000408277:p.Arg79Trp					DAPK2_ENST00000457488.1_Missense_Mutation_p.R79W|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Missense_Mutation_p.R79W	p.R79W			Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	2	240	-			79			Protein kinase.		E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	37	c.235C>T	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280129	0.95489	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.67698	-0.28;-0.28	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177884	0.38058	N	0.001821	T	0.79718	0.4494	M	0.75085	2.285	0.58432	D	0.999998	D;D	0.89917	1.0;0.979	D;P	0.66716	0.946;0.812	T	0.81775	-0.0778	10	0.72032	D	0.01	.	13.1035	0.59233	0.0:0.0:0.8399:0.1601	.	79;79	E9JGM7;Q9UIK4	.;DAPK2_HUMAN	W	79	ENSP00000261891:R79W;ENSP00000408277:R79W	ENSP00000261891:R79W	R	-	1	2	DAPK2	62062864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.980000	0.56895	2.508000	0.84585	0.561000	0.74099	CGG		0.637	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		21	25	0	0	0	1	0	21	25				
RNF128	79589	broad.mit.edu	37	X	106016254	106016254	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106016254A>T	ENST00000255499.2	+	2	846	c.596A>T	c.(595-597)cAt>cTt	p.H199L	RNF128_ENST00000324342.3_Missense_Mutation_p.H173L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	199					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGGAAAAAACATGGCCCTTGG	0.373																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(595-597)cAt>cTt		ring finger protein 128, E3 ubiquitin protein ligase							218.0	175.0	190.0					X																	106016254		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016254A>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.596A>T	X.37:g.106016254A>T	ENSP00000255499:p.His199Leu					RNF128_ENST00000324342.3_Missense_Mutation_p.H173L	p.H199L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	846	+			199					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.596A>T	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003657	0.74932	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.31769	1.48;2.75;2.61	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.81112	2.525	0.54753	D	0.999986	P;D	0.76494	0.53;0.999	B;D	0.72625	0.308;0.978	T	0.56165	-0.8024	10	0.08179	T	0.78	.	13.8541	0.63515	1.0:0.0:0.0:0.0	.	199;173	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	L	146;173;199	ENSP00000412610:H146L;ENSP00000316127:H173L;ENSP00000255499:H199L	ENSP00000255499:H199L	H	+	2	0	RNF128	105902910	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.006000	0.70724	1.953000	0.56701	0.417000	0.27973	CAT		0.373	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		47	103	0	0	0	1	0	47	103				
PNN	5411	broad.mit.edu	37	14	39646666	39646666	+	Missense_Mutation	SNP	C	C	T	rs200533040		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39646666C>T	ENST00000216832.4	+	4	372	c.305C>T	c.(304-306)cCg>cTg	p.P102L	PNN_ENST00000556530.1_Missense_Mutation_p.P102L|PNN_ENST00000553331.1_Missense_Mutation_p.P102L|RP11-407N17.4_ENST00000556537.1_lincRNA	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	102	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAAGCGACCCGGAGGATGAT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		20065	0.0		0.001	False		,,,				2504	0.0					ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(304-306)cCg>cTg		pinin, desmosome associated protein							70.0	76.0	74.0					14																	39646666		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39646666C>T	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.305C>T	14.37:g.39646666C>T	ENSP00000216832:p.Pro102Leu					PNN_ENST00000556530.1_Missense_Mutation_p.P102L|PNN_ENST00000553331.1_Missense_Mutation_p.P102L	p.P102L	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	4	372	+	Hepatocellular(127;0.213)		102			Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.305C>T	CCDS9671.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.19	3.326374	0.60743	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	T	0.32023	1.47	5.87	5.87	0.94306	Pinin/SDK (2);	0.158323	0.56097	D	0.000034	T	0.17916	0.0430	N	0.08118	0	0.42549	D	0.993106	B	0.32829	0.386	B	0.29440	0.102	T	0.09185	-1.0686	10	0.28530	T	0.3	-2.212	17.5018	0.87734	0.0:0.8764:0.1236:0.0	.	102	Q9H307	PININ_HUMAN	L	102	ENSP00000216832:P102L	ENSP00000216832:P102L	P	+	2	0	PNN	38716417	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.581000	0.67471	2.941000	0.99782	0.655000	0.94253	CCG		0.413	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		11	20	0	0	0	1	0	11	20				
TRPM3	80036	broad.mit.edu	37	9	73461449	73461449	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73461449T>C	ENST00000377111.2	-	4	764	c.521A>G	c.(520-522)gAa>gGa	p.E174G	TRPM3_ENST00000357533.2_Missense_Mutation_p.E176G|TRPM3_ENST00000377101.1_Missense_Mutation_p.E21G|TRPM3_ENST00000396285.1_Missense_Mutation_p.E21G|TRPM3_ENST00000360823.2_Missense_Mutation_p.E21G|TRPM3_ENST00000396292.4_Missense_Mutation_p.E21G|TRPM3_ENST00000377097.3_Missense_Mutation_p.E21G|TRPM3_ENST00000358082.3_Missense_Mutation_p.E21G|TRPM3_ENST00000396280.5_Missense_Mutation_p.E21G|TRPM3_ENST00000377105.1_Missense_Mutation_p.E21G|TRPM3_ENST00000408909.2_Missense_Mutation_p.E21G|TRPM3_ENST00000361823.5_Missense_Mutation_p.E21G|TRPM3_ENST00000377106.1_Missense_Mutation_p.E21G|TRPM3_ENST00000396283.1_Missense_Mutation_p.E21G|TRPM3_ENST00000423814.3_Missense_Mutation_p.E176G|TRPM3_ENST00000377110.3_Missense_Mutation_p.E174G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	174					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAACTGCCATTCCTTGGTCAT	0.478																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(520-522)gAa>gGa		transient receptor potential cation channel, subfamily M, member 3							110.0	107.0	108.0					9																	73461449		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73461449T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.521A>G	9.37:g.73461449T>C	ENSP00000366315:p.Glu174Gly					TRPM3_ENST00000377097.3_Missense_Mutation_p.E21G|TRPM3_ENST00000408909.2_Missense_Mutation_p.E21G|TRPM3_ENST00000358082.3_Missense_Mutation_p.E21G|TRPM3_ENST00000377101.1_Missense_Mutation_p.E21G|TRPM3_ENST00000396280.5_Missense_Mutation_p.E21G|TRPM3_ENST00000377105.1_Missense_Mutation_p.E21G|TRPM3_ENST00000423814.3_Missense_Mutation_p.E176G|TRPM3_ENST00000360823.2_Missense_Mutation_p.E21G|TRPM3_ENST00000361823.5_Missense_Mutation_p.E21G|TRPM3_ENST00000377106.1_Missense_Mutation_p.E21G|TRPM3_ENST00000396283.1_Missense_Mutation_p.E21G|TRPM3_ENST00000357533.2_Missense_Mutation_p.E176G|TRPM3_ENST00000377111.2_Missense_Mutation_p.E174G|TRPM3_ENST00000396292.4_Missense_Mutation_p.E21G|TRPM3_ENST00000396285.1_Missense_Mutation_p.E21G	p.E174G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			4	764	-			174					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.521A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.8|27.8	4.860073|4.860073	0.91433|0.91433	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.60797|.	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16|.	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.048835|.	0.85682|.	D|.	0.000000|.	T|T	0.77994|0.77994	0.4214|0.4214	M|M	0.80847|0.80847	2.515|2.515	0.58432|0.58432	D|D	0.999999|0.999999	B;P;P;P;P;D;B;P;D;P;B|.	0.76494|.	0.129;0.575;0.95;0.832;0.728;0.999;0.26;0.734;0.999;0.827;0.146|.	B;B;P;P;P;D;B;P;D;P;B|.	0.78314|.	0.045;0.406;0.784;0.662;0.586;0.991;0.197;0.461;0.991;0.586;0.071|.	T|T	0.79027|0.79027	-0.1971|-0.1971	10|5	0.72032|.	D|.	0.01|.	-20.8031|-20.8031	16.5285|16.5285	0.84344|0.84344	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	174;176;21;174;174;174;176;21;21;174;21|.	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.	G|D	174;174;21;21;21;176;21;21;21;21;176;21;21;21;21|64	ENSP00000366315:E174G;ENSP00000366314:E174G;ENSP00000366310:E21G;ENSP00000354066:E21G;ENSP00000366309:E21G;ENSP00000350140:E176G;ENSP00000386127:E21G;ENSP00000379581:E21G;ENSP00000379587:E21G;ENSP00000350791:E21G;ENSP00000389542:E176G;ENSP00000366305:E21G;ENSP00000379579:E21G;ENSP00000355395:E21G|.	ENSP00000350140:E176G|.	E|N	-|-	2|1	0|0	TRPM3|TRPM3	72651269|72651269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.985000|7.985000	0.88162|0.88162	2.307000|2.307000	0.77673|0.77673	0.528000|0.528000	0.53228|0.53228	GAA|AAT		0.478	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		9	79	0	0	0	1	0	9	79				
DDIAS	220042	broad.mit.edu	37	11	82644518	82644518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644518C>A	ENST00000533655.1	+	6	2350	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	C11orf82_ENST00000430323.2_Missense_Mutation_p.P713H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.P412H	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		713					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAAAGTCACCCTTCAGAGTCT	0.368																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2137-2139)cCt>cAt		chromosome 11 open reading frame 82							82.0	84.0	83.0					11																	82644518		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644518C>A																												ENST00000533655.1:c.2138C>A	11.37:g.82644518C>A	ENSP00000435421:p.Pro713His					C11orf82_ENST00000329143.3_Missense_Mutation_p.P412H|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.P713H|C11orf82_ENST00000525361.1_Intron	p.P713H	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2350	+			713					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2138C>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	5.311	0.242659	0.10077	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.19938	2.39;2.39;2.11	5.62	-2.82	0.05787	.	1.030270	0.07671	N	0.935413	T	0.07098	0.0180	N	0.04297	-0.235	0.09310	N	0.999996	B	0.12630	0.006	B	0.09377	0.004	T	0.34527	-0.9825	9	.	.	.	.	2.4086	0.04419	0.4355:0.2815:0.0825:0.2005	.	713	Q8IXT1	NOXIN_HUMAN	H	713;713;412	ENSP00000414687:P713H;ENSP00000435421:P713H;ENSP00000329930:P412H	.	P	+	2	0	C11orf82	82322166	0.000000	0.05858	0.005000	0.12908	0.973000	0.67179	-0.158000	0.10070	-0.958000	0.03622	0.650000	0.86243	CCT		0.368	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			10	118	1	0	0.000673444	1	0.000724755	10	118				
CDC14B	8555	broad.mit.edu	37	9	99285544	99285544	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285544G>A	ENST00000375241.1	-	11	1695	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000375242.3_Splice_Site_p.P378L|CDC14B_ENST00000375236.1_Splice_Site_p.P415L|CDC14B_ENST00000265659.2_Splice_Site_p.P415L|CDC14B_ENST00000463569.1_Splice_Site_p.P415L|CDC14B_ENST00000375240.3_Splice_Site_p.P415L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	415					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CTTGATTACCGGTTCGGGTTC	0.443																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.e11+1		cell division cycle 14B							79.0	83.0	81.0					9																	99285544		2203	4300	6503	SO:0001630	splice_region_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99285544G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1245+1C>T	9.37:g.99285544G>A						CDC14B_ENST00000463569.1_Splice_Site_p.P415_splice|CDC14B_ENST00000265659.2_Splice_Site_p.P415_splice|CDC14B_ENST00000375242.3_Splice_Site_p.P378_splice|CDC14B_ENST00000375240.3_Splice_Site_p.P415_splice|CDC14B_ENST00000375236.1_Splice_Site_p.P415_splice	p.P415_splice	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			11	1695	-		Acute lymphoblastic leukemia(62;0.0559)	415					A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Splice_Site	SNP	ENST00000375241.1	37	c.1245_splice	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	4.032	0.003400	0.07866	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	D;D;D;D;D;D	0.91577	-2.83;-2.87;-2.85;-2.86;-2.83;-2.83	5.29	2.28	0.28536	.	0.614250	0.17074	N	0.188041	T	0.75824	0.3902	N	0.04355	-0.22	0.39588	D	0.969548	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.62148	-0.6915	10	0.20046	T	0.44	-0.1214	7.8729	0.29576	0.5913:0.0:0.4087:0.0	.	415;415;378	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	L	415;415;415;378;415;415	ENSP00000265659:P415L;ENSP00000364389:P415L;ENSP00000364388:P415L;ENSP00000364390:P378L;ENSP00000420572:P415L;ENSP00000364384:P415L	ENSP00000265659:P415L	P	-	2	0	CDC14B	98325365	0.994000	0.37717	1.000000	0.80357	0.354000	0.29330	0.279000	0.18771	0.274000	0.22072	-0.263000	0.10527	CCG		0.443	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	Missense_Mutation	10	71	0	0	0	1	0	10	71				
LCT	3938	broad.mit.edu	37	2	136552211	136552211	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136552211C>A	ENST00000264162.2	-	14	5121	c.5111G>T	c.(5110-5112)aGa>aTa	p.R1704I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1704	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTGGACTTACCTGTCTGCATC	0.532																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.e14+1		lactase							161.0	142.0	148.0					2																	136552211		2203	4300	6503	SO:0001630	splice_region_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136552211C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5111+1G>T	2.37:g.136552211C>A							p.R1704_splice	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	14	5121	-			1704			4 X approximate repeats.		Q4ZG58	Splice_Site	SNP	ENST00000264162.2	37	c.5111_splice	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022745	0.93462	.	.	ENSG00000115850	ENST00000264162	T	0.54479	0.57	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	L	0.55743	1.74	0.80722	D	1	B	0.27117	0.168	B	0.42653	0.394	T	0.62623	-0.6815	10	0.72032	D	0.01	-25.3681	19.9719	0.97287	0.0:1.0:0.0:0.0	.	1704	P09848	LPH_HUMAN	I	1704	ENSP00000264162:R1704I	ENSP00000264162:R1704I	R	-	2	0	LCT	136268681	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.979000	0.63806	2.718000	0.92993	0.650000	0.86243	AGA		0.532	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	Missense_Mutation	5	47	1	0	0.014758	1	0.0152625	5	47				
STIL	6491	broad.mit.edu	37	1	47767270	47767270	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47767270A>G	ENST00000360380.3	-	6	779	c.416T>C	c.(415-417)aTa>aCa	p.I139T	STIL_ENST00000243182.6_Missense_Mutation_p.I139T|STIL_ENST00000337817.5_Missense_Mutation_p.I139T|STIL_ENST00000396221.2_Missense_Mutation_p.I139T|STIL_ENST00000371877.3_Missense_Mutation_p.I139T	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	139					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ACTGTGAACTATCATTTCTCT	0.368																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(415-417)aTa>aCa		SCL/TAL1 interrupting locus							96.0	96.0	96.0					1																	47767270		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47767270A>G	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.416T>C	1.37:g.47767270A>G	ENSP00000353544:p.Ile139Thr					STIL_ENST00000371877.3_Missense_Mutation_p.I139T|STIL_ENST00000243182.6_Missense_Mutation_p.I139T|STIL_ENST00000337817.5_Missense_Mutation_p.I139T|STIL_ENST00000396221.2_Missense_Mutation_p.I139T	p.I139T			Q15468	STIL_HUMAN			6	779	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	139					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.416T>C	CCDS548.1	.	.	.	.	.	.	.	.	.	.	A	9.308	1.054875	0.19907	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.86	0.742	0.18341	.	0.825624	0.11572	N	0.550639	T	0.34106	0.0886	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.001;0.003;0.003;0.003	B;B;B;B;B	0.14578	0.011;0.011;0.011;0.011;0.011	T	0.33059	-0.9883	10	0.25751	T	0.34	-0.0206	2.3269	0.04225	0.5831:0.1189:0.1837:0.1143	.	139;139;139;139;139	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	T	139	ENSP00000353544:I139T;ENSP00000337367:I139T;ENSP00000360944:I139T;ENSP00000379523:I139T;ENSP00000243182:I139T;ENSP00000411664:I139T	ENSP00000243182:I139T	I	-	2	0	STIL	47539857	0.095000	0.21747	0.005000	0.12908	0.763000	0.43281	0.882000	0.28186	-0.119000	0.11830	0.460000	0.39030	ATA		0.368	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	80	0	0	0	1	0	9	80				
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193214	20193214	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20193214C>A	ENST00000558565.2	-	0	53									immunoglobulin heavy variable 3/OR15-7 (pseudogene)																		GCACCTCACACTGGACACCTG	0.537																																						ENST00000558565.2																			0																																																			0							g.chr15:20193214C>A	Z29597		15q11.2	2012-06-12	2011-04-15		ENSG00000259490	ENSG00000259490		"""Immunoglobulins / IGH orphons"""	5633	pseudogene	immunoglobulin pseudogene			"""immunoglobulin heavy variable 3/OR15-7"", ""immunoglobulin heavy variable 3/OR15-7 pseudogene"""				Standard			Approved	IGHV3/OR15-7			OTTHUMG00000171835		15.37:g.20193214C>A														0	53	-									RNA	SNP	ENST00000558565.2	37																																																																																						0.537	IGHV3OR15-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415305.2			25	40	1	0	7.26314e-15	1	9.28782e-15	25	40				
ZNF558	148156	broad.mit.edu	37	19	8933396	8933396	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8933396G>T	ENST00000601372.1	-	0	651				ZNF558_ENST00000444186.2_5'Flank|ZNF558_ENST00000301475.1_De_novo_Start_OutOfFrame|ZNF558_ENST00000599938.1_5'UTR|CTD-2529P6.3_ENST00000594006.1_RNA			Q96NG5	ZN558_HUMAN	zinc finger protein 558						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTATCCCGCAGCGCTCTGGAA	0.627																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15								zinc finger protein 558							36.0	39.0	38.0					19																	8933396		692	1591	2283			148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8933396G>T	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.-61C>A	19.37:g.8933396G>T						ZNF558_ENST00000599938.1_5'UTR|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_De_novo_Start_OutOfFrame				Q96NG5	ZN558_HUMAN			0	651	-								A8K5F0|B7Z798	Translation_Start_Site	SNP	ENST00000601372.1	37		CCDS12208.1																																																																																				0.627	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		11	12	1	0	5.50884e-06	1	6.28354e-06	11	12				
LIMA1	51474	broad.mit.edu	37	12	50589640	50589640	+	Missense_Mutation	SNP	G	G	A	rs373214767		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50589640G>A	ENST00000341247.4	-	8	1152	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	LIMA1_ENST00000552909.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552823.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552491.1_Missense_Mutation_p.R33C|LIMA1_ENST00000552783.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000547825.1_Missense_Mutation_p.R33C|LIMA1_ENST00000394943.3_Missense_Mutation_p.R335C	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	335					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGGTGGAACGGACTGCCAGG	0.383																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(97-99)Cgt>Tgt		LIM domain and actin binding 1		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	68.0	69.0		1003,523,1003	1.4	0.0	12		69	0,8600		0,0,4300	no	missense,missense,missense	LIMA1	NM_001113546.1,NM_001113547.1,NM_016357.4	180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	335/761,175/601,335/760	50589640	1,13005	2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50589640G>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1003C>T	12.37:g.50589640G>A	ENSP00000340184:p.Arg335Cys					LIMA1_ENST00000341247.4_Missense_Mutation_p.R335C|LIMA1_ENST00000552783.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552909.1_Missense_Mutation_p.R175C|LIMA1_ENST00000394943.3_Missense_Mutation_p.R335C|LIMA1_ENST00000552823.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552491.1_Missense_Mutation_p.R33C|LIMA1_ENST00000552008.1_5'UTR	p.R33C	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			2	1366	-			335					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.97C>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292598	0.23564	2.27E-4	0.0	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84516	-1.15;-1.14;-1.47;-1.86;-1.13;-1.45;-1.47	5.42	1.43	0.22495	.	1.370210	0.04199	N	0.329780	T	0.69753	0.3146	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.12630	0.003;0.005;0.006	B;B;B	0.09377	0.001;0.001;0.004	T	0.58301	-0.7660	10	0.36615	T	0.2	.	6.5397	0.22372	0.1562:0.2776:0.5661:0.0	.	344;335;175	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	C	33;33;175;335;335;175;175;254	ENSP00000448463:R33C;ENSP00000448706:R33C;ENSP00000450266:R175C;ENSP00000378400:R335C;ENSP00000340184:R335C;ENSP00000448779:R175C;ENSP00000450087:R175C	ENSP00000340184:R335C	R	-	1	0	LIMA1	48875907	0.001000	0.12720	0.003000	0.11579	0.782000	0.44232	-0.029000	0.12329	0.388000	0.25054	0.563000	0.77884	CGT		0.383	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		5	44	0	0	0	1	0	5	44				
EXD1	161829	broad.mit.edu	37	15	41488137	41488137	+	Missense_Mutation	SNP	A	A	C	rs373725286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41488137A>C	ENST00000314992.5	-	6	649	c.459T>G	c.(457-459)atT>atG	p.I153M	EXD1_ENST00000458580.2_Missense_Mutation_p.I211M	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	153							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACCTTCAAAATTCTCTTGT	0.388																																						ENST00000314992.5																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(457-459)atT>atG		exonuclease 3'-5' domain containing 1							98.0	99.0	98.0					15																	41488137		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41488137A>C	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.459T>G	15.37:g.41488137A>C	ENSP00000321029:p.Ile153Met					EXD1_ENST00000458580.2_Missense_Mutation_p.I211M	p.I153M	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN			6	649	-			153					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.459T>G	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319476	0.60524	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.67345	-0.26;-0.26	5.65	3.37	0.38596	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.83312	2.635	0.37193	D	0.904029	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.81816	-0.0759	10	0.87932	D	0	-3.3768	8.3244	0.32147	0.8615:0.0:0.1385:0.0	.	211;153	B7Z839;Q8NHP7	.;EXD1_HUMAN	M	153;211	ENSP00000321029:I153M;ENSP00000415056:I211M	ENSP00000321029:I153M	I	-	3	3	EXD1	39275429	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.919000	0.28692	0.453000	0.26858	0.379000	0.24179	ATT		0.388	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		18	39	0	0	0	1	0	18	39				
SLC26A8	116369	broad.mit.edu	37	6	35980071	35980071	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35980071C>A	ENST00000490799.1	-	3	620	c.267G>T	c.(265-267)aaG>aaT	p.K89N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K89N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K89N	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAAGCCAATCCTTTAATCGAT	0.458																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(265-267)aaG>aaT		solute carrier family 26 (anion exchanger), member 8							219.0	200.0	206.0					6																	35980071		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980071C>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.267G>T	6.37:g.35980071C>A	ENSP00000417638:p.Lys89Asn					SLC26A8_ENST00000355574.2_Missense_Mutation_p.K89N|SLC26A8_ENST00000394602.2_Missense_Mutation_p.K89N	p.K89N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			3	620	-			89						Missense_Mutation	SNP	ENST00000490799.1	37	c.267G>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698902	0.48307	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	D;D;D;T	0.92446	-3.04;-3.04;-3.04;0.94	5.81	2.06	0.26882	.	0.087103	0.52532	D	0.000069	D	0.91385	0.7282	L	0.59436	1.845	0.31972	N	0.607048	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.956	D	0.88771	0.3264	10	0.87932	D	0	.	9.5371	0.39229	0.0:0.6862:0.0:0.3138	.	89;89	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	N	89;89;89;175	ENSP00000417638:K89N;ENSP00000378100:K89N;ENSP00000347778:K89N;ENSP00000420488:K175N	ENSP00000347778:K89N	K	-	3	2	SLC26A8	36088049	0.999000	0.42202	0.994000	0.49952	0.827000	0.46813	0.263000	0.18478	0.108000	0.17862	-0.813000	0.03139	AAG		0.458	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			21	175	1	0	8.10497e-08	1	9.61437e-08	21	175				
HEXB	3074	broad.mit.edu	37	5	73985152	73985152	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73985152G>T	ENST00000261416.7	+	2	416		c.e2-1		HEXB_ENST00000511181.1_Splice_Site	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)						astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTCTCAAACAGATATCATGGC	0.353																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e2-1		hexosaminidase B (beta polypeptide)							106.0	109.0	108.0					5																	73985152		2203	4300	6503	SO:0001630	splice_region_variant	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:73985152G>T	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.300-1G>T	5.37:g.73985152G>T						HEXB_ENST00000261416.7_Splice_Site				P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	2	536	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)							Splice_Site	SNP	ENST00000261416.7	37		CCDS4022.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372597	0.24857	.	.	ENSG00000049860	ENST00000261416	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4958	0.90864	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEXB	74020908	1.000000	0.71417	0.961000	0.40146	0.021000	0.10359	5.246000	0.65411	2.647000	0.89833	0.655000	0.94253	.		0.353	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521	Intron	5	85	1	0	0.014758	1	0.0152625	5	85				
UBR5	51366	broad.mit.edu	37	8	103266626	103266626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103266626G>A	ENST00000520539.1	-	59	8910	c.8304C>T	c.(8302-8304)tgC>tgT	p.C2768C	UBR5_ENST00000518205.1_Silent_p.C496C|UBR5_ENST00000521922.1_Silent_p.C2761C|UBR5_ENST00000220959.4_Silent_p.C2767C|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.4_ENST00000499653.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2768	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCGAGAAATGCAAGTATTTG	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(8302-8304)tgC>tgT		ubiquitin protein ligase E3 component n-recognin 5							221.0	199.0	207.0					8																	103266626		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103266626G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8304C>T	8.37:g.103266626G>A						UBR5_ENST00000518205.1_Silent_p.C496C|UBR5_ENST00000220959.4_Silent_p.C2767C|UBR5_ENST00000521922.1_Silent_p.C2761C	p.C2768C	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		59	8910	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2768			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.8304C>T	CCDS34933.1																																																																																				0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		21	33	0	0	0	1	0	21	33				
OTOF	9381	broad.mit.edu	37	2	26739295	26739295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26739295C>A	ENST00000272371.2	-	5	626	c.500G>T	c.(499-501)aGc>aTc	p.S167I	OTOF_ENST00000403946.3_Missense_Mutation_p.S167I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	167					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCGGAAGCTCTTCTCTCC	0.637																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(499-501)aGc>aTc		otoferlin							68.0	80.0	76.0					2																	26739295		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26739295C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.500G>T	2.37:g.26739295C>A	ENSP00000272371:p.Ser167Ile					OTOF_ENST00000403946.3_Missense_Mutation_p.S167I	p.S167I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			5	626	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		167					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.500G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823717	0.50739	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.80393	-1.37;-1.37	5.46	5.46	0.80206	.	0.557299	0.16573	U	0.208542	T	0.72170	0.3427	L	0.36672	1.1	0.40813	D	0.983441	B	0.33694	0.421	B	0.25140	0.058	T	0.71265	-0.4644	10	0.33940	T	0.23	-32.8055	16.8154	0.85733	0.0:1.0:0.0:0.0	.	167	Q9HC10	OTOF_HUMAN	I	167;167;36	ENSP00000272371:S167I;ENSP00000385255:S167I	ENSP00000272371:S167I	S	-	2	0	OTOF	26592799	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.602000	0.36783	2.573000	0.86826	0.655000	0.94253	AGC		0.637	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			44	60	1	0	8.00217e-19	1	1.04538e-18	44	60				
PMFBP1	83449	broad.mit.edu	37	16	72164161	72164161	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72164161G>A	ENST00000237353.10	-	12	1994	c.1733C>T	c.(1732-1734)gCt>gTt	p.A578V	PMFBP1_ENST00000355636.6_Missense_Mutation_p.A433V|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A583V	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	583						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATCCTGCTCAGCCACTGTCTT	0.463																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1747-1749)gCt>gTt		polyamine modulated factor 1 binding protein 1							126.0	112.0	116.0					16																	72164161		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72164161G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1733C>T	16.37:g.72164161G>A	ENSP00000237353:p.Ala578Val					PMFBP1_ENST00000237353.10_Missense_Mutation_p.A578V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A433V	p.A583V			Q8TBY8	PMFBP_HUMAN			12	1906	-		Ovarian(137;0.179)	583					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1748C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108519	0.20714	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13089	2.62;2.62;2.62	4.77	-2.56	0.06268	.	0.702006	0.12241	N	0.486531	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	B;B;B	0.26809	0.16;0.002;0.16	B;B;B	0.21917	0.037;0.003;0.037	T	0.35748	-0.9776	10	0.27785	T	0.31	1.2616	8.2301	0.31593	0.0853:0.0:0.2967:0.618	.	583;578;583	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	V	583;578;433	ENSP00000443817:A583V;ENSP00000237353:A578V;ENSP00000347854:A433V	ENSP00000237353:A578V	A	-	2	0	PMFBP1	70721662	0.000000	0.05858	0.036000	0.18154	0.553000	0.35397	-0.469000	0.06648	-0.335000	0.08451	-0.158000	0.13435	GCT		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		18	52	0	0	0	1	0	18	52				
SORBS1	10580	broad.mit.edu	37	10	97096671	97096671	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97096671C>T	ENST00000361941.3	-	28	3272	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371247.2_Silent_p.T1082T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371227.4_Silent_p.T1036T|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000277982.5_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGAAGATGGCGTGTGGACAC	0.552																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3244-3246)acG>acA		sorbin and SH3 domain containing 1							124.0	115.0	118.0					10																	97096671		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096671C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3246G>A	10.37:g.97096671C>T						SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000361941.3_Silent_p.T1082T|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371227.4_Silent_p.T1036T|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Intron	p.T1082T			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	30	3435	-		Colorectal(252;0.0429)	1082						Silent	SNP	ENST00000361941.3	37	c.3246G>A	CCDS31255.1																																																																																				0.552	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			12	28	0	0	0	1	0	12	28				
VAMP4	8674	broad.mit.edu	37	1	171707535	171707535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171707535C>T	ENST00000236192.7	-	2	406	c.20G>A	c.(19-21)cGc>cAc	p.R7H	VAMP4_ENST00000367740.2_Missense_Mutation_p.R7H|VAMP4_ENST00000415773.1_Missense_Mutation_p.R7H|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	7					Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTGAGGTGGCGCTTAAACTT	0.333																																						ENST00000236192.7																			0				large_intestine(4)	4						c.(19-21)cGc>cAc		vesicle-associated membrane protein 4							127.0	123.0	124.0					1																	171707535		2203	4300	6503	SO:0001583	missense	8674				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome		g.chr1:171707535C>T	AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.20G>A	1.37:g.171707535C>T	ENSP00000236192:p.Arg7His					VAMP4_ENST00000367740.2_Missense_Mutation_p.R7H|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000415773.1_Missense_Mutation_p.R7H	p.R7H	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN			2	406	-	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		7					A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	ENST00000236192.7	37	c.20G>A	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277786	0.59758	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	.	.	.	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.55481	1.735	0.58432	D	0.999994	B;B	0.31100	0.308;0.009	B;B	0.26202	0.067;0.005	T	0.50162	-0.8860	9	0.72032	D	0.01	.	13.4457	0.61140	0.0:0.9223:0.0:0.0777	.	7;7	O75379-2;O75379	.;VAMP4_HUMAN	H	7	.	ENSP00000236192:R7H	R	-	2	0	VAMP4	169974158	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.497000	0.66924	2.819000	0.97034	0.585000	0.79938	CGC		0.333	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762		30	40	0	0	0	1	0	30	40				
KIAA1217	56243	broad.mit.edu	37	10	24825761	24825761	+	Missense_Mutation	SNP	G	G	T	rs145406190		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24825761G>T	ENST00000376454.3	+	17	3503	c.3473G>T	c.(3472-3474)cGg>cTg	p.R1158L	KIAA1217_ENST00000396445.1_Missense_Mutation_p.R841L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1123L|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1122L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R841L|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R841L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1158					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGCCATCCCGGGCTGACAGT	0.488																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2521-2523)cGg>cTg		KIAA1217							107.0	100.0	103.0					10																	24825761		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24825761G>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3473G>T	10.37:g.24825761G>T	ENSP00000365637:p.Arg1158Leu					KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1158L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R841L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1123L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R841L|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1122L|KIAA1217_ENST00000376462.1_Intron	p.R841L			Q5T5P2	SKT_HUMAN			12	2782	+			1158					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2522G>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058904	0.76074	.	.	ENSG00000120549	ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.62	4.7	0.59300	.	0.138314	0.46442	N	0.000284	T	0.66147	0.2760	M	0.61703	1.905	0.42729	D	0.993702	D;D;D;D;D;D	0.89917	0.995;0.997;0.998;1.0;0.998;0.998	P;P;D;D;D;D	0.80764	0.878;0.904;0.956;0.991;0.966;0.994	T	0.66952	-0.5793	10	0.49607	T	0.09	.	9.3382	0.38062	0.0716:0.0:0.783:0.1454	.	1123;1122;841;841;841;1158	Q5T5P2-7;A6NLF3;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2	.;.;.;.;.;SKT_HUMAN	L	1123;841;1158;1122;841;841;841;841	ENSP00000392625:R1123L;ENSP00000365637:R1158L;ENSP00000365635:R1122L;ENSP00000302343:R841L;ENSP00000379722:R841L;ENSP00000365634:R841L	ENSP00000302343:R841L	R	+	2	0	KIAA1217	24865767	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.635000	0.61332	1.354000	0.45846	-0.182000	0.12963	CGG		0.488	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		12	81	1	0	1.5842e-08	1	1.90059e-08	12	81				
CTRB2	440387	broad.mit.edu	37	16	75238090	75238090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75238090G>T	ENST00000303037.8	-	7	804	c.761C>A	c.(760-762)cCc>cAc	p.P254H		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	254	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCACCCAGGGTATGAGCTT	0.612																																						ENST00000303037.8																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(760-762)cCc>cAc		chymotrypsinogen B2							111.0	100.0	104.0					16																	75238090		2198	4300	6498	SO:0001583	missense	440387				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:75238090G>T	M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.761C>A	16.37:g.75238090G>T	ENSP00000303963:p.Pro254His						p.P254H	NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN			7	804	-			254			Peptidase S1.		A8K707	Missense_Mutation	SNP	ENST00000303037.8	37	c.761C>A	CCDS32489.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323627	0.41096	.	.	ENSG00000168928	ENST00000303037	D	0.93307	-3.2	4.09	3.1	0.35709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.287586	0.26871	U	0.022072	D	0.94102	0.8109	M	0.65677	2.01	0.30850	N	0.734724	P	0.48834	0.916	P	0.56788	0.806	D	0.91487	0.5209	10	0.51188	T	0.08	.	8.3887	0.32516	0.0:0.1465:0.5532:0.3003	.	254	Q6GPI1	CTRB2_HUMAN	H	254	ENSP00000303963:P254H	ENSP00000303963:P254H	P	-	2	0	CTRB2	73795591	0.778000	0.28640	0.300000	0.25030	0.311000	0.27955	1.142000	0.31540	0.812000	0.34326	0.436000	0.28706	CCC		0.612	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354298.2	NM_001025200		27	61	1	0	9.39395e-14	1	1.19386e-13	27	61				
PTPRD	5789	broad.mit.edu	37	9	8340357	8340357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8340357G>A	ENST00000381196.4	-	39	5782	c.5239C>T	c.(5239-5241)Cgt>Tgt	p.R1747C	PTPRD_ENST00000397611.3_Missense_Mutation_p.R1337C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1337C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1734C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1725C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1341C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1340C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1747C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1747C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1340C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1747	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCATTTCACGCAGCTTGGTG	0.488										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5239-5241)Cgt>Tgt		protein tyrosine phosphatase, receptor type, D							136.0	112.0	120.0					9																	8340357		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8340357G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5239C>T	9.37:g.8340357G>A	ENSP00000370593:p.Arg1747Cys	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.R1747C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1341C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1337C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1747C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1734C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1337C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1725C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1340C	p.R1747C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	39	5782	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1747			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5239C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442258	0.63067	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.98	5.07	0.68467	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	L	0.52823	1.66	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.994;0.994;0.994;0.994;0.99;0.99;0.995;0.996;0.994	D	0.88128	0.2836	9	.	.	.	.	16.1722	0.81825	0.0:0.0:0.8619:0.1381	.	1340;1331;1340;1341;1337;1337;1734;1747;1747	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1747;1747;1734;1725;1341;1340;1337;1337;1218;1747;1340;1340	ENSP00000370593:R1747C;ENSP00000348812:R1747C;ENSP00000353187:R1734C;ENSP00000351293:R1725C;ENSP00000347373:R1341C;ENSP00000380741:R1340C;ENSP00000380735:R1337C;ENSP00000440515:R1337C;ENSP00000438164:R1747C;ENSP00000417093:R1340C;ENSP00000380731:R1340C	.	R	-	1	0	PTPRD	8330357	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.159000	0.58157	1.475000	0.48197	0.591000	0.81541	CGT		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			24	35	0	0	0	1	0	24	35				
KRT33B	3884	broad.mit.edu	37	17	39521183	39521183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521183C>T	ENST00000251646.3	-	6	994	c.945G>A	c.(943-945)caG>caA	p.Q315Q		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	315	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGATCAGGCTCTGCACCTGGG	0.617																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(943-945)caG>caA		keratin 33B							52.0	58.0	56.0					17																	39521183		2190	4298	6488	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521183C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.945G>A	17.37:g.39521183C>T							p.Q315Q	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			6	994	-		Breast(137;0.000496)	315			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.945G>A	CCDS11389.1																																																																																				0.617	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		19	39	0	0	0	1	0	19	39				
FGF23	8074	broad.mit.edu	37	12	4479523	4479523	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4479523C>T	ENST00000237837.1	-	3	887	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	248					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			ATGAACTTGGCGAAGGGGCGG	0.632																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(742-744)Gcc>Acc		fibroblast growth factor 23							60.0	67.0	64.0					12																	4479523		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479523C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.742G>A	12.37:g.4479523C>T	ENSP00000237837:p.Ala248Thr						p.A248T	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	887	-			248					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.742G>A	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728540	0.89390	.	.	ENSG00000118972	ENST00000237837	T	0.80123	-1.34	4.58	4.58	0.56647	.	0.000000	0.52532	D	0.000063	T	0.63498	0.2516	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.58451	-0.7634	10	0.87932	D	0	0.1529	10.6781	0.45797	0.0:0.1937:0.8063:0.0	.	248	Q9GZV9	FGF23_HUMAN	T	248	ENSP00000237837:A248T	ENSP00000237837:A248T	A	-	1	0	FGF23	4349784	0.994000	0.37717	0.052000	0.19188	0.152000	0.21847	1.913000	0.39956	1.146000	0.42352	-0.232000	0.12228	GCC		0.632	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			4	99	0	0	0	1	0	4	99				
SEC14L1	6397	broad.mit.edu	37	17	75208277	75208277	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208277C>T	ENST00000413679.2	+	15	2160	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	SEC14L1_ENST00000585618.1_Silent_p.S619S|SEC14L1_ENST00000443798.4_Silent_p.S619S|SEC14L1_ENST00000392476.2_Silent_p.S619S|SEC14L1_ENST00000431431.2_Silent_p.S585S|SEC14L1_ENST00000591437.1_Silent_p.S585S|SEC14L1_ENST00000436233.4_Silent_p.S619S|SEC14L1_ENST00000430767.4_Silent_p.S619S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	619	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAGGAGAAAGCGTGCAGGTAA	0.542																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1855-1857)agC>agT		SEC14-like 1 (S. cerevisiae)							101.0	108.0	106.0					17																	75208277		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208277C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1857C>T	17.37:g.75208277C>T						SEC14L1_ENST00000430767.4_Silent_p.S619S|SEC14L1_ENST00000436233.4_Silent_p.S619S|SEC14L1_ENST00000392476.2_Silent_p.S619S|SEC14L1_ENST00000443798.4_Silent_p.S619S|SEC14L1_ENST00000431431.2_Silent_p.S585S|SEC14L1_ENST00000585618.1_Silent_p.S619S|SEC14L1_ENST00000591437.1_Silent_p.S585S	p.S619S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			15	2160	+			619			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1857C>T	CCDS11752.1																																																																																				0.542	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		55	110	0	0	0	1	0	55	110				
ANKRD11	29123	broad.mit.edu	37	16	89349882	89349882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89349882G>A	ENST00000301030.4	-	9	3528	c.3068C>T	c.(3067-3069)aCa>aTa	p.T1023I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T1023I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1023	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTGGTTTTGTCTTCTCCTT	0.463																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3067-3069)aCa>aTa		ankyrin repeat domain 11							157.0	152.0	154.0					16																	89349882		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89349882G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3068C>T	16.37:g.89349882G>A	ENSP00000301030:p.Thr1023Ile					ANKRD11_ENST00000378330.2_Missense_Mutation_p.T1023I	p.T1023I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3528	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1023			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.3068C>T	CCDS32513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.122|1.122	-0.655140|-0.655140	0.03480|0.03480	.|.	.|.	ENSG00000167522|ENSG00000167522	ENST00000330736|ENST00000301030;ENST00000378330	.|T;T	.|0.37411	.|1.2;1.2	4.72|4.72	-2.3|-2.3	0.06785|0.06785	.|.	.|3.933730	.|0.00799	.|N	.|0.001404	.|T	.|0.22282	.|0.0537	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.16897	.|-1.0387	.|10	0.07175|0.38643	T|T	0.84|0.18	.|.	6.5407|6.5407	0.22378|0.22378	0.5814:0.1285:0.2901:0.0|0.5814:0.1285:0.2901:0.0	.|.	.|1023	.|Q6UB99	.|ANR11_HUMAN	X|I	574|1023	.|ENSP00000301030:T1023I;ENSP00000367581:T1023I	ENSP00000330815:Q574X|ENSP00000301030:T1023I	Q|T	-|-	1|2	0|0	ANKRD11|ANKRD11	87877383|87877383	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.401000|-1.401000	0.02502|0.02502	-0.610000|-0.610000	0.05716|0.05716	-0.345000|-0.345000	0.07892|0.07892	CAA|ACA		0.463	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		61	70	0	0	0	1	0	61	70				
MICU3	286097	broad.mit.edu	37	8	16944541	16944541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16944541G>A	ENST00000318063.5	+	7	888	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	282						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AGCGTGCAATGCTGGTAAGAA	0.294																																						ENST00000318063.5																			0											c.(844-846)atG>atA		mitochondrial calcium uptake family, member 3							95.0	104.0	101.0					8																	16944541		2203	4299	6502	SO:0001583	missense	286097							g.chr8:16944541G>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.846G>A	8.37:g.16944541G>A	ENSP00000321455:p.Met282Ile						p.M282I	NM_181723.2	NP_859074.1					7	888	+								Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.846G>A	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.58|11.58	1.682462|1.682462	0.29872|0.29872	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000519044|ENST00000318063	.|T	.|0.43294	.|0.95	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.662303	.|0.15924	.|N	.|0.237964	T|T	0.29093|0.29093	0.0723|0.0723	N|N	0.22421|0.22421	0.69|0.69	0.40381|0.40381	D|D	0.979448|0.979448	.|B	.|0.15473	.|0.013	.|B	.|0.11329	.|0.006	T|T	0.08493|0.08493	-1.0719|-1.0719	5|10	.|0.22109	.|T	.|0.4	-15.4638|-15.4638	11.6946|11.6946	0.51536|0.51536	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	.|282	.|Q86XE3	.|EFHA2_HUMAN	Y|I	140|282	.|ENSP00000321455:M282I	.|ENSP00000321455:M282I	C|M	+|+	2|3	0|0	EFHA2|EFHA2	16988912|16988912	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.819000|0.819000	0.46315|0.46315	6.646000|6.646000	0.74348|0.74348	2.733000|2.733000	0.93635|0.93635	0.585000|0.585000	0.79938|0.79938	TGC|ATG		0.294	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		11	17	0	0	0	1	0	11	17				
ZNF532	55205	broad.mit.edu	37	18	56586058	56586058	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586058G>T	ENST00000336078.4	+	4	1315	c.539G>T	c.(538-540)gGa>gTa	p.G180V	ZNF532_ENST00000591808.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591083.1_Missense_Mutation_p.G180V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G180V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGGCACTCGGAGGGGAAAAC	0.507																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(538-540)gGa>gTa		zinc finger protein 532							94.0	100.0	98.0					18																	56586058		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586058G>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.539G>T	18.37:g.56586058G>T	ENSP00000338217:p.Gly180Val					ZNF532_ENST00000591230.1_Missense_Mutation_p.G180V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591083.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G180V	p.G180V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1315	+			180					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.539G>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	g	3.667	-0.068333	0.07228	.	.	ENSG00000074657	ENST00000336078	T	0.01455	4.87	5.21	3.28	0.37604	.	0.422498	0.26187	N	0.025831	T	0.03390	0.0098	L	0.57536	1.79	0.40715	D	0.982601	B	0.25351	0.124	B	0.29942	0.109	T	0.42464	-0.9450	10	0.56958	D	0.05	-8.1064	14.4818	0.67587	0.0:0.4173:0.5827:0.0	.	180	Q9HCE3	ZN532_HUMAN	V	180	ENSP00000338217:G180V	ENSP00000338217:G180V	G	+	2	0	ZNF532	54737038	1.000000	0.71417	0.205000	0.23548	0.017000	0.09413	1.249000	0.32839	1.179000	0.42884	0.550000	0.68814	GGA		0.507	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		20	99	1	0	1.15919e-05	1	1.31461e-05	20	99				
PIGT	51604	broad.mit.edu	37	20	44047956	44047956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44047956G>A	ENST00000279036.6	+	4	595	c.515G>A	c.(514-516)cGc>cAc	p.R172H	PIGT_ENST00000372689.5_Missense_Mutation_p.R172H|PIGT_ENST00000279035.9_Missense_Mutation_p.R70H|PIGT_ENST00000543458.2_Missense_Mutation_p.R116H|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000545755.1_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	172					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TACTTTCTGCGCTATGCTGTG	0.602																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(514-516)cGc>cAc		phosphatidylinositol glycan anchor biosynthesis, class T							71.0	70.0	71.0					20																	44047956		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44047956G>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.515G>A	20.37:g.44047956G>A	ENSP00000279036:p.Arg172His					PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Missense_Mutation_p.R70H|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Missense_Mutation_p.R172H|PIGT_ENST00000543458.2_Missense_Mutation_p.R116H	p.R172H	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			4	595	+		Myeloproliferative disorder(115;0.0122)	172					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.515G>A	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536679	0.96460	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;0.998;1.0	T	0.66056	-0.6018	10	0.15952	T	0.53	-31.3526	18.6556	0.91452	0.0:0.0:1.0:0.0	.	70;116;28;172	Q969N2-4;B7Z3N1;Q969N2-3;Q969N2	.;.;.;PIGT_HUMAN	H	116;172;70;172;70	ENSP00000441577:R116H;ENSP00000361774:R172H;ENSP00000279035:R70H;ENSP00000279036:R172H;ENSP00000407574:R70H	ENSP00000279035:R70H	R	+	2	0	PIGT	43481370	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.243000	0.95416	2.884000	0.98904	0.655000	0.94253	CGC		0.602	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		10	24	0	0	0	1	0	10	24				
TAZ	6901	broad.mit.edu	37	X	153648575	153648575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153648575G>A	ENST00000350743.4	+	8	870	c.581G>A	c.(580-582)aGt>aAt	p.S194N	TAZ_ENST00000369776.4_Missense_Mutation_p.S194N|TAZ_ENST00000299328.5_Missense_Mutation_p.S224N|TAZ_ENST00000369790.4_Missense_Mutation_p.S180N|TAZ_ENST00000351413.4_Missense_Mutation_p.S210N|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000475699.1_Missense_Mutation_p.S197N	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCTAACAGTCCGCCCTAC	0.627																																						ENST00000299328.5																			0				lung(1)	1						c.(670-672)aGt>aAt		tafazzin							189.0	155.0	166.0					X																	153648575		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648575G>A	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.581G>A	X.37:g.153648575G>A	ENSP00000338891:p.Ser194Asn					TAZ_ENST00000350743.4_Missense_Mutation_p.S194N|TAZ_ENST00000369776.4_Missense_Mutation_p.S194N|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000351413.4_Missense_Mutation_p.S210N|TAZ_ENST00000369790.4_Missense_Mutation_p.S180N	p.S224N	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			9	960	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		224					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.671G>A	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	9.917	1.211059	0.22289	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.98437	-3.2;-3.2;-3.2;-3.2;-4.93;-3.2	5.15	1.22	0.21188	.	1.035820	0.07619	N	0.926682	D	0.93327	0.7873	N	0.14661	0.345	0.19945	N	0.999944	B;B;B;B;B;B	0.10296	0.001;0.001;0.0;0.0;0.001;0.003	B;B;B;B;B;B	0.10450	0.001;0.003;0.0;0.002;0.005;0.001	D	0.86369	0.1722	10	0.19590	T	0.45	0.0021	4.7	0.12822	0.4338:0.2124:0.3539:0.0	.	228;194;180;194;210;224	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	N	180;224;194;210;194;197	ENSP00000358805:S180N;ENSP00000299328:S224N;ENSP00000338891:S194N;ENSP00000218246:S210N;ENSP00000358791:S194N;ENSP00000419854:S197N	ENSP00000299328:S224N	S	+	2	0	TAZ	153301769	0.003000	0.15002	0.961000	0.40146	0.994000	0.84299	0.069000	0.14552	0.093000	0.17368	0.525000	0.51046	AGT		0.627	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			28	218	0	0	0	1	0	28	218				
KCNC2	3747	broad.mit.edu	37	12	75445001	75445001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75445001C>T	ENST00000549446.1	-	3	1464	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KCNC2_ENST00000350228.2_Missense_Mutation_p.E262K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E262K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E262K|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000550433.1_Missense_Mutation_p.E262K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E262K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E262K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E262K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	262					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ATGACTGGTTCTGTCTTGTTT	0.368																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(784-786)Gaa>Aaa		potassium voltage-gated channel, Shaw-related subfamily, member 2							123.0	117.0	119.0					12																	75445001		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75445001C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.784G>A	12.37:g.75445001C>T	ENSP00000449253:p.Glu262Lys					KCNC2_ENST00000550433.1_Missense_Mutation_p.E262K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E262K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E262K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E262K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E262K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E262K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E262K	p.E262K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1464	-			262					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.784G>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131155	0.77549	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97529	-4.41;-4.41;-4.4;-4.41;-4.41;-4.37;-4.36;-4.42	5.52	5.52	0.82312	.	5.071820	0.00166	N	0.000000	D	0.98298	0.9436	M	0.62088	1.915	0.58432	D	0.999996	P;P;P;P;B	0.44659	0.84;0.84;0.566;0.84;0.051	P;P;B;P;B	0.56960	0.713;0.81;0.171;0.713;0.159	D	0.89314	0.3635	10	0.30078	T	0.28	.	19.3996	0.94623	0.0:1.0:0.0:0.0	.	262;262;262;262;262	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	K	262	ENSP00000448301:E262K;ENSP00000449941:E262K;ENSP00000449253:E262K;ENSP00000340121:E262K;ENSP00000298972:E262K;ENSP00000319877:E262K;ENSP00000438423:E262K;ENSP00000376966:E262K	ENSP00000298972:E262K	E	-	1	0	KCNC2	73731268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.748000	0.94277	0.655000	0.94253	GAA		0.368	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		20	46	0	0	0	1	0	20	46				
PLCB4	5332	broad.mit.edu	37	20	9319618	9319618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9319618C>T	ENST00000378493.1	+	4	318	c.303C>T	c.(301-303)tgC>tgT	p.C101C	PLCB4_ENST00000334005.3_Silent_p.C101C|PLCB4_ENST00000378473.3_Silent_p.C101C|PLCB4_ENST00000278655.4_Silent_p.C101C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.C101C|PLCB4_ENST00000378501.2_Silent_p.C101C			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	101					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTGTGTCTGCAGTGGCACAG	0.433																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(301-303)tgC>tgT		phospholipase C, beta 4							154.0	139.0	144.0					20																	9319618		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9319618C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.303C>T	20.37:g.9319618C>T						PLCB4_ENST00000414679.2_Silent_p.C101C|PLCB4_ENST00000334005.3_Silent_p.C101C|PLCB4_ENST00000278655.4_Silent_p.C101C|PLCB4_ENST00000378493.1_Silent_p.C101C|PLCB4_ENST00000378473.3_Silent_p.C101C|PLCB4_ENST00000492632.1_3'UTR	p.C101C	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			4	318	+			101					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.303C>T	CCDS13105.1																																																																																				0.433	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			5	84	0	0	0	1	0	5	84				
ADCY5	111	broad.mit.edu	37	3	123038541	123038541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123038541C>A	ENST00000462833.1	-	10	3448	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E379*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E396*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	746					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2236-2238)Gag>Tag		adenylate cyclase 5							82.0	71.0	75.0					3																	123038541		2203	4300	6503	SO:0001587	stop_gained	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123038541C>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2236G>T	3.37:g.123038541C>A	ENSP00000419361:p.Glu746*					ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E396*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E379*	p.E746*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	10	3448	-			746					B7Z8A6|Q7RTV7|Q8NFM3	Nonsense_Mutation	SNP	ENST00000462833.1	37	c.2236G>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	50	16.440303	0.99863	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	12.1517	0.54053	0.0:0.9223:0.0:0.0777	.	.	.	.	X	746;379;396;305	.	ENSP00000308685:E396X	E	-	1	0	ADCY5	124521231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.650000	0.46665	2.686000	0.91538	0.637000	0.83480	GAG		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		5	29	1	0	5.9392e-07	1	6.91975e-07	5	29				
TNKS1BP1	85456	broad.mit.edu	37	11	57076180	57076180	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57076180C>A	ENST00000532437.1	-	5	4316	c.4005G>T	c.(4003-4005)cgG>cgT	p.R1335R	TNKS1BP1_ENST00000358252.3_Silent_p.R1335R|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1335	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCACATCCCCGTAGCCCCT	0.617																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4003-4005)cgG>cgT		tankyrase 1 binding protein 1, 182kDa							129.0	140.0	136.0					11																	57076180		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076180C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4005G>T	11.37:g.57076180C>A						TNKS1BP1_ENST00000358252.3_Silent_p.R1335R	p.R1335R			Q9C0C2	TB182_HUMAN			5	4316	-		all_epithelial(135;0.21)	1335			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.4005G>T	CCDS7951.1																																																																																				0.617	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		7	187	1	0	0.0381472	1	0.0390147	7	187				
SRMS	6725	broad.mit.edu	37	20	62172560	62172560	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62172560G>T	ENST00000217188.1	-	7	1309	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGGACACTGGCCATAGGTGA	0.627																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1267-1269)ggC>ggA		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							63.0	66.0	65.0					20																	62172560		2202	4300	6502	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172560G>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1269C>A	20.37:g.62172560G>T							p.G423G	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1309	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		423			Protein kinase.			Silent	SNP	ENST00000217188.1	37	c.1269C>A	CCDS13525.1																																																																																				0.627	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		22	27	1	0	6.33239e-15	1	8.10486e-15	22	27				
CLCN4	1183	broad.mit.edu	37	X	10176405	10176405	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10176405C>A	ENST00000380833.4	+	9	1555	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	CLCN4_ENST00000380829.1_Silent_p.P357P|CLCN4_ENST00000421085.2_Silent_p.P294P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	388					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCCCAATCCCTACACACGCC	0.567																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1162-1164)ccC>ccA		chloride channel, voltage-sensitive 4							194.0	184.0	187.0					X																	10176405		2203	4300	6503	SO:0001819	synonymous_variant	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176405C>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1164C>A	X.37:g.10176405C>A						CLCN4_ENST00000380829.1_Silent_p.P357P|CLCN4_ENST00000421085.2_Silent_p.P294P	p.P388P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1555	+			388					A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	c.1164C>A	CCDS14137.1																																																																																				0.567	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			30	286	1	0	7.26314e-15	1	9.28782e-15	30	286				
THRAP3	9967	broad.mit.edu	37	1	36762305	36762305	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36762305C>T	ENST00000354618.5	+	9	2461	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S746F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	746	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCGAGACTCCAGTCACTCA	0.428			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2236-2238)tCc>tTc		thyroid hormone receptor associated protein 3							116.0	117.0	117.0					1																	36762305		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36762305C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2237C>T	1.37:g.36762305C>T	ENSP00000346634:p.Ser746Phe					THRAP3_ENST00000469141.2_Missense_Mutation_p.S746F	p.S746F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			9	2461	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	746					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2237C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384582	0.82792	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16324	2.35;2.35	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	T	0.37652	0.1011	L	0.55481	1.735	0.49130	D	0.999754	D	0.64830	0.994	P	0.62740	0.906	T	0.02574	-1.1139	10	0.72032	D	0.01	-0.2655	18.9611	0.92678	0.0:1.0:0.0:0.0	.	746	Q9Y2W1	TR150_HUMAN	F	746	ENSP00000346634:S746F;ENSP00000433825:S746F	ENSP00000346634:S746F	S	+	2	0	THRAP3	36534892	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	3.510000	0.53393	2.790000	0.95986	0.650000	0.86243	TCC		0.428	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		21	48	0	0	0	1	0	21	48				
TIAM2	26230	broad.mit.edu	37	6	155532416	155532416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155532416G>T	ENST00000461783.3	+	17	4416	c.3143G>T	c.(3142-3144)aGg>aTg	p.R1048M	TIAM2_ENST00000529824.2_Missense_Mutation_p.R1048M|TIAM2_ENST00000367174.2_Missense_Mutation_p.R424M|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1048M|TIAM2_ENST00000528391.2_Missense_Mutation_p.R384M|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1072M|TIAM2_ENST00000456877.2_Missense_Mutation_p.R360M|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1048M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1048					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTTTCCCACAGGGAGAAAATG	0.473																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3142-3144)aGg>aTg		T-cell lymphoma invasion and metastasis 2							80.0	73.0	75.0					6																	155532416		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155532416G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3143G>T	6.37:g.155532416G>T	ENSP00000437188:p.Arg1048Met					TIAM2_ENST00000456144.1_Missense_Mutation_p.R1048M|TIAM2_ENST00000367174.2_Missense_Mutation_p.R424M|TIAM2_ENST00000456877.2_Missense_Mutation_p.R360M|TIAM2_ENST00000528391.2_Missense_Mutation_p.R384M|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1072M|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1048M|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1048M	p.R1048M			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	17	4416	+		Ovarian(120;0.196)	1048					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3143G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326330	0.41197	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.05925	3.54;3.44;3.5;3.54;3.37;3.54;3.5;3.37;3.37	4.89	3.05	0.35203	.	1.122570	0.06543	N	0.743573	T	0.01695	0.0054	L	0.27053	0.805	0.29878	N	0.82629	P;P;P;P	0.49358	0.731;0.923;0.923;0.731	B;B;B;B	0.42916	0.285;0.402;0.402;0.227	T	0.43605	-0.9381	10	0.33940	T	0.23	.	2.7601	0.05305	0.1625:0.1446:0.5438:0.1491	.	384;1048;1072;1048	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	M	1048;1294;1048;1048;1048;424;1072;1048;360;384	ENSP00000437188:R1048M;ENSP00000434901:R1048M;ENSP00000407746:R1048M;ENSP00000327315:R1048M;ENSP00000356142:R424M;ENSP00000353528:R1072M;ENSP00000433348:R1048M;ENSP00000407183:R360M;ENSP00000435335:R384M	ENSP00000327315:R1048M	R	+	2	0	TIAM2	155574108	0.997000	0.39634	0.151000	0.22473	0.913000	0.54294	1.462000	0.35266	0.452000	0.26830	0.555000	0.69702	AGG		0.473	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		4	21	1	0	1	1	1	4	21				
C9orf131	138724	broad.mit.edu	37	9	35044203	35044203	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35044203A>C	ENST00000312292.5	+	2	1624	c.1577A>C	c.(1576-1578)gAa>gCa	p.E526A	C9orf131_ENST00000354479.5_Missense_Mutation_p.E453A|C9orf131_ENST00000421362.2_Missense_Mutation_p.E478A|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	526										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCCTTATGGAACCACACAGA	0.507																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1576-1578)gAa>gCa		chromosome 9 open reading frame 131							197.0	180.0	185.0					9																	35044203		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044203A>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1577A>C	9.37:g.35044203A>C	ENSP00000308279:p.Glu526Ala					C9orf131_ENST00000421362.2_Missense_Mutation_p.E478A|C9orf131_ENST00000354479.5_Missense_Mutation_p.E453A	p.E526A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1624	+	all_epithelial(49;0.22)		526					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1577A>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	10.29	1.308710	0.23821	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.17691	2.27;2.26;2.27	4.67	2.14	0.27477	.	0.632493	0.13983	N	0.349356	T	0.13157	0.0319	L	0.39898	1.24	0.09310	N	1	B;B;B	0.22909	0.077;0.077;0.077	B;B;B	0.23419	0.046;0.046;0.046	T	0.25641	-1.0126	10	0.52906	T	0.07	-0.7051	5.0457	0.14483	0.7198:0.1825:0.0977:0.0	.	526;453;478	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	A	478;453;526	ENSP00000393683:E478A;ENSP00000346472:E453A;ENSP00000308279:E526A	ENSP00000308279:E526A	E	+	2	0	C9orf131	35034203	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.074000	0.30703	0.236000	0.21180	0.533000	0.62120	GAA		0.507	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		60	116	0	0	0	1	0	60	116				
HARS2	23438	broad.mit.edu	37	5	140075366	140075366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140075366C>T	ENST00000230771.3	+	6	792	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HARS2_ENST00000437649.2_Missense_Mutation_p.A116V|HARS2_ENST00000435019.2_Missense_Mutation_p.A150V|HARS2_ENST00000508522.1_Missense_Mutation_p.A165V|HARS2_ENST00000432671.2_Missense_Mutation_p.A76V|HARS2_ENST00000448069.2_Missense_Mutation_p.A51V	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	190					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCGATGCAGAGTGTTTG	0.448																																						ENST00000230771.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19						c.(568-570)gCa>gTa		histidyl-tRNA synthetase 2, mitochondrial							184.0	176.0	179.0					5																	140075366		2203	4300	6503	SO:0001583	missense	23438				histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	g.chr5:140075366C>T	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.569C>T	5.37:g.140075366C>T	ENSP00000230771:p.Ala190Val					HARS2_ENST00000432671.2_Missense_Mutation_p.A76V|HARS2_ENST00000437649.2_Missense_Mutation_p.A116V|HARS2_ENST00000508522.1_Missense_Mutation_p.A165V|HARS2_ENST00000448069.2_Missense_Mutation_p.A51V|HARS2_ENST00000435019.2_Missense_Mutation_p.A150V	p.A190V	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	792	+			190					B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	c.569C>T	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	c	32	5.109159	0.94292	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	T;T;T;T;T;T	0.67698	0.95;0.95;0.95;0.95;0.95;-0.28	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	L	0.48362	1.52	0.80722	D	1	P;D;D;P;D;P	0.64830	0.932;0.985;0.994;0.857;0.984;0.924	P;P;D;P;P;P	0.64237	0.768;0.831;0.923;0.597;0.866;0.734	T	0.71955	-0.4436	10	0.35671	T	0.21	-8.135	20.8794	0.99867	0.0:1.0:0.0:0.0	.	76;51;116;165;190;190	E9PD60;B4DQ67;E9PG66;B4DDY8;B2R7G6;P49590	.;.;.;.;.;SYHM_HUMAN	V	190;150;116;76;165;51;62	ENSP00000230771:A190V;ENSP00000412887:A150V;ENSP00000411708:A116V;ENSP00000415007:A76V;ENSP00000423616:A165V;ENSP00000407105:A51V	ENSP00000230771:A190V	A	+	2	0	HARS2	140055550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.463000	0.80869	2.941000	0.99782	0.655000	0.94253	GCA		0.448	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		41	98	0	0	0	1	0	41	98				
SIPA1L3	23094	broad.mit.edu	37	19	38610010	38610010	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38610010T>C	ENST00000222345.6	+	9	2865	c.2356T>C	c.(2356-2358)Ttc>Ctc	p.F786L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	786	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAACCACATTCCGCAAATC	0.552																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2356-2358)Ttc>Ctc		signal-induced proliferation-associated 1 like 3							79.0	85.0	83.0					19																	38610010		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610010T>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2356T>C	19.37:g.38610010T>C	ENSP00000222345:p.Phe786Leu						p.F786L	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	2865	+			786			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2356T>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300518	0.95601	.	.	ENSG00000105738	ENST00000222345	D	0.94092	-3.35	5.75	5.75	0.90469	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	M	0.91818	3.245	0.58432	D	0.999997	D	0.55172	0.97	D	0.67103	0.949	D	0.97998	1.0358	10	0.87932	D	0	-41.2701	15.0489	0.71850	0.0:0.0:0.0:1.0	.	786	O60292	SI1L3_HUMAN	L	786	ENSP00000222345:F786L	ENSP00000222345:F786L	F	+	1	0	SIPA1L3	43301850	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.010000	0.88615	2.201000	0.70794	0.533000	0.62120	TTC		0.552	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		28	45	0	0	0	1	0	28	45				
LPCAT4	254531	broad.mit.edu	37	15	34652402	34652402	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34652402C>A	ENST00000314891.6	-	12	1329	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	384					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCACCAAACCCTTGGTATCCT	0.552																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(1150-1152)aaG>aaT		lysophosphatidylcholine acyltransferase 4							77.0	76.0	77.0					15																	34652402		2201	4298	6499	SO:0001583	missense	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34652402C>A	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1152G>T	15.37:g.34652402C>A	ENSP00000317300:p.Lys384Asn						p.K384N	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			12	1329	-			384					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	c.1152G>T	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822228	0.32237	.	.	ENSG00000176454	ENST00000314891	T	0.64438	-0.1	6.07	-1.42	0.08913	EF-hand-like domain (1);	1.256460	0.04831	N	0.438640	T	0.47710	0.1460	L	0.39898	1.24	0.21984	N	0.999438	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	10	0.42905	T	0.14	6.242	1.4475	0.02367	0.4022:0.2154:0.232:0.1504	.	384	Q643R3	LPCT4_HUMAN	N	384	ENSP00000317300:K384N	ENSP00000317300:K384N	K	-	3	2	LPCAT4	32439694	0.000000	0.05858	0.062000	0.19696	0.814000	0.46013	-1.316000	0.02710	-0.098000	0.12285	0.655000	0.94253	AAG		0.552	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		6	54	1	0	3.59834e-05	1	4.01776e-05	6	54				
LAMB2	3913	broad.mit.edu	37	3	49169107	49169107	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49169107C>T	ENST00000418109.1	-	6	673	c.509G>A	c.(508-510)cGc>cAc	p.R170H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R170H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	170	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCCAGGTGCGGCCAAAGTC	0.592																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(508-510)cGc>cAc		laminin, beta 2 (laminin S)							76.0	79.0	78.0					3																	49169107		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169107C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.509G>A	3.37:g.49169107C>T	ENSP00000388325:p.Arg170His					LAMB2_ENST00000305544.4_Missense_Mutation_p.R170H	p.R170H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	673	-			170			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.509G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782933	0.49891	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.61510	1.21;1.21;0.1	4.85	2.14	0.27477	Laminin, N-terminal (3);	0.119603	0.56097	N	0.000033	T	0.44414	0.1292	L	0.47016	1.485	0.58432	D	0.999999	P	0.37663	0.604	B	0.32465	0.146	T	0.23619	-1.0183	10	0.36615	T	0.2	.	9.7431	0.40431	0.0:0.7735:0.0:0.2265	.	170	P55268	LAMB2_HUMAN	H	170;170;21	ENSP00000388325:R170H;ENSP00000307156:R170H;ENSP00000444751:R21H	ENSP00000307156:R170H	R	-	2	0	LAMB2	49144111	0.030000	0.19436	0.996000	0.52242	0.991000	0.79684	0.272000	0.18644	0.280000	0.22209	-0.137000	0.14449	CGC		0.592	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		29	48	0	0	0	1	0	29	48				
DDX11	1663	broad.mit.edu	37	12	31244760	31244760	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31244760C>T	ENST00000407793.2	+	10	1448	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	DDX11_ENST00000542838.1_Silent_p.I399I|DDX11_ENST00000545668.1_Silent_p.I399I|DDX11_ENST00000228264.6_Silent_p.I373I|DDX11_ENST00000350437.4_Silent_p.I399I|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	399	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTGATCGACACCATCA	0.667										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(1195-1197)atC>atT		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							52.0	53.0	53.0					12																	31244760		2201	4294	6495	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31244760C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1197C>T	12.37:g.31244760C>T		Multiple Myeloma(12;0.14)				DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.I399I|DDX11_ENST00000542838.1_Silent_p.I399I|DDX11_ENST00000228264.6_Silent_p.I373I|DDX11_ENST00000350437.4_Silent_p.I399I	p.I399I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			10	1448	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		399			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.1197C>T	CCDS44856.1																																																																																				0.667	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		14	49	0	0	0	1	0	14	49				
SEMA6A	57556	broad.mit.edu	37	5	115837950	115837950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115837950G>A	ENST00000343348.6	-	3	961	c.174C>T	c.(172-174)atC>atT	p.I58I	SEMA6A_ENST00000510263.1_Silent_p.I58I|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000257414.8_Silent_p.I58I|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	58	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TAATCATCTGGATGTCCAGCC	0.507																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(172-174)atC>atT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							244.0	247.0	246.0					5																	115837950		2050	4196	6246	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115837950G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.174C>T	5.37:g.115837950G>A						SEMA6A_ENST00000257414.8_Silent_p.I58I|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.I58I|CTB-118N6.3_ENST00000510682.1_RNA	p.I58I	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	3	961	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	58			Sema.		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.174C>T	CCDS47256.1																																																																																				0.507	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		62	74	0	0	0	1	0	62	74				
ACAP1	9744	broad.mit.edu	37	17	7252368	7252368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7252368C>T	ENST00000158762.3	+	18	1939	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V	KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	578	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTGTTTCGAGCGTCTGGGCAT	0.602																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1732-1734)gCg>gTg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							110.0	104.0	106.0					17																	7252368		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7252368C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1733C>T	17.37:g.7252368C>T	ENSP00000158762:p.Ala578Val						p.A578V	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			18	1939	+			578			Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1733C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703583	0.68501	.	.	ENSG00000072818	ENST00000158762	T	0.75154	-0.91	5.13	5.13	0.70059	.	0.131122	0.50627	D	0.000109	T	0.78521	0.4296	M	0.68952	2.095	0.80722	D	1	D	0.67145	0.996	P	0.50617	0.646	T	0.77335	-0.2626	10	0.33141	T	0.24	.	16.1215	0.81361	0.0:1.0:0.0:0.0	.	578	Q15027	ACAP1_HUMAN	V	578	ENSP00000158762:A578V	ENSP00000158762:A578V	A	+	2	0	ACAP1	7193092	1.000000	0.71417	0.996000	0.52242	0.203000	0.24098	6.665000	0.74442	2.675000	0.91044	0.655000	0.94253	GCG		0.602	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		32	43	0	0	0	1	0	32	43				
OPLAH	26873	broad.mit.edu	37	8	145111623	145111623	+	Missense_Mutation	SNP	C	C	T	rs531006889		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145111623C>T	ENST00000426825.1	-	13	1823	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	581					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCTGGTAGCGCAGGTGCAG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15211	0.001		0.0	False		,,,				2504	0.0					ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1741-1743)cGc>cAc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						24.0	29.0	27.0					8																	145111623		2132	4226	6358	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145111623C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1742G>A	8.37:g.145111623C>T	ENSP00000475943:p.Arg581His					OPLAH_ENST00000534424.1_5'UTR	p.R581H	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		13	1823	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		581					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.1742G>A		.	.	.	.	.	.	.	.	.	.	C	13.96	2.392493	0.42410	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78966	0.4367	.	.	.	0.54753	D	0.999980	D	0.89917	1.0	D	0.74348	0.983	D	0.83507	0.0078	7	0.72032	D	0.01	.	15.6371	0.76963	0.0:1.0:0.0:0.0	.	581	O14841	OPLA_HUMAN	H	581	.	ENSP00000412071:R581H	R	-	2	0	OPLAH	145183611	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.213000	0.58520	2.285000	0.76669	0.514000	0.50259	CGC		0.682	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		9	12	0	0	0	1	0	9	12				
APTX	54840	broad.mit.edu	37	9	32973503	32973503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32973503G>A	ENST00000379819.1	-	8	1063	c.1064C>T	c.(1063-1065)aCa>aTa	p.T355I	APTX_ENST00000379813.3_Missense_Mutation_p.T341I|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.T283I|APTX_ENST00000379817.2_Missense_Mutation_p.T341I|APTX_ENST00000468275.1_Missense_Mutation_p.T341I|APTX_ENST00000476858.1_Missense_Mutation_p.T301I|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000463596.1_Missense_Mutation_p.T341I|APTX_ENST00000436040.2_3'UTR			Q7Z2E3	APTX_HUMAN	aprataxin	355					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GAATCACTGTGTCCAGTGCTT	0.542								Editing and processing nucleases																														ENST00000379817.2																			0				endometrium(1)|lung(1)|ovary(2)|prostate(2)	6						c.(1021-1023)aCa>aTa	Editing and processing nucleases	aprataxin							77.0	71.0	73.0					9																	32973503		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32973503G>A	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.1064C>T	9.37:g.32973503G>A	ENSP00000369147:p.Thr355Ile					APTX_ENST00000379825.2_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.T283I|APTX_ENST00000463596.1_Missense_Mutation_p.T341I|APTX_ENST00000476858.1_Missense_Mutation_p.T301I|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000379813.3_Missense_Mutation_p.T341I|APTX_ENST00000468275.1_Missense_Mutation_p.T341I|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Missense_Mutation_p.T355I	p.T341I			Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	7	1218	-			355					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.1022C>T		.	.	.	.	.	.	.	.	.	.	G	13.25	2.180365	0.38511	.	.	ENSG00000137074	ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813	D;D;D;D;D;D;D	0.91631	-1.87;-1.88;-1.89;-1.88;-1.88;-2.88;-1.88	5.43	3.56	0.40772	.	0.439317	0.25601	N	0.029546	D	0.86138	0.5861	L	0.29908	0.895	0.45227	D	0.998237	B;B;B	0.28128	0.145;0.078;0.201	B;B;B	0.31614	0.133;0.107;0.092	T	0.80551	-0.1332	10	0.46703	T	0.11	0.8943	8.6965	0.34298	0.0848:0.1592:0.7561:0.0	.	283;287;355	Q7Z2E3-3;Q7Z2E3-5;Q7Z2E3	.;.;APTX_HUMAN	I	283;341;355;341;341;301;336;341	ENSP00000380357:T283I;ENSP00000369145:T341I;ENSP00000369147:T355I;ENSP00000420263:T341I;ENSP00000419846:T341I;ENSP00000419042:T301I;ENSP00000369141:T341I	ENSP00000339407:T336I	T	-	2	0	APTX	32963503	0.992000	0.36948	0.323000	0.25347	0.876000	0.50452	3.552000	0.53705	0.639000	0.30564	0.655000	0.94253	ACA		0.542	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		7	35	0	0	0	1	0	7	35				
PTPRZ1	5803	broad.mit.edu	37	7	121651950	121651950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121651950G>A	ENST00000393386.2	+	12	3261	c.2850G>A	c.(2848-2850)gtG>gtA	p.V950V	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	950					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATACCTGTGCATGATTCTG	0.443																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2848-2850)gtG>gtA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							157.0	138.0	144.0					7																	121651950		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651950G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2850G>A	7.37:g.121651950G>A						PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.V950V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3261	+			950					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.2850G>A	CCDS34740.1																																																																																				0.443	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		33	99	0	0	0	1	0	33	99				
TMEM19	55266	broad.mit.edu	37	12	72092916	72092916	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72092916C>A	ENST00000266673.5	+	5	1441				TMEM19_ENST00000549735.1_Missense_Mutation_p.L292I	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19							integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATTCTTGCAACTTATTGGTAT	0.363																																						ENST00000549735.1																			0				large_intestine(1)|lung(8)	9						c.(874-876)Ctt>Att		transmembrane protein 19							67.0	65.0	65.0					12																	72092916		2203	4300	6503	SO:0001627	intron_variant	55266					integral to membrane		g.chr12:72092916C>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.847+27C>A	12.37:g.72092916C>A						TMEM19_ENST00000266673.5_Intron	p.L292I			Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	5	1059	+		Breast(359;0.0889)	0					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.874C>A	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223420	0.22457	.	.	ENSG00000139291	ENST00000549735	.	.	.	5.2	-4.79	0.03200	.	.	.	.	.	T	0.15349	0.0370	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.24621	-1.0155	6	.	.	.	.	2.276	0.04103	0.1149:0.1898:0.227:0.4683	.	292	Q96HH6-2	.	I	292	.	.	L	+	1	0	TMEM19	70379183	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.028000	0.12350	-0.868000	0.04058	-0.119000	0.15052	CTT		0.363	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		23	35	1	0	3.62473e-10	1	4.44982e-10	23	35				
NOBOX	135935	broad.mit.edu	37	7	144097329	144097329	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144097329C>A	ENST00000467773.1	-	5	920	c.921G>T	c.(919-921)caG>caT	p.Q307H	NOBOX_ENST00000483238.1_Missense_Mutation_p.Q307H|NOBOX_ENST00000223140.5_Missense_Mutation_p.Q222H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	307					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(919-921)caG>caT		NOBOX oogenesis homeobox							77.0	73.0	74.0					7																	144097329		1892	4112	6004	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097329C>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.921G>T	7.37:g.144097329C>A	ENSP00000419457:p.Gln307His					NOBOX_ENST00000483238.1_Missense_Mutation_p.Q307H|NOBOX_ENST00000223140.5_Missense_Mutation_p.Q222H	p.Q307H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			5	920	-	Melanoma(164;0.14)		307					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.921G>T		.	.	.	.	.	.	.	.	.	.	C	10.51	1.370337	0.24771	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.96300	-3.97;-3.97;-3.97	5.79	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.877140	0.10002	N	0.728357	D	0.95130	0.8422	N	0.16130	0.375	0.25652	N	0.986082	D	0.64830	0.994	D	0.64410	0.925	D	0.88129	0.2837	10	0.52906	T	0.07	-19.6079	9.3137	0.37921	0.0:0.8382:0.0:0.1618	.	307	O60393	NOBOX_HUMAN	H	307;307;222;96	ENSP00000419565:Q307H;ENSP00000419457:Q307H;ENSP00000223140:Q222H	ENSP00000223140:Q222H	Q	-	3	2	NOBOX	143728262	0.598000	0.26882	0.991000	0.47740	0.179000	0.23085	0.717000	0.25851	2.731000	0.93534	0.650000	0.86243	CAG		0.552	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		9	63	1	0	1.58986e-06	1	1.84011e-06	9	63				
PDXK	8566	broad.mit.edu	37	21	45175625	45175625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45175625G>T	ENST00000291565.4	+	10	989	c.806G>T	c.(805-807)aGg>aTg	p.R269M	PDXK_ENST00000467908.1_Missense_Mutation_p.R229M|PDXK_ENST00000468090.1_Missense_Mutation_p.R241M	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	269					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTCTGCAGAGGACCATCCAG	0.637																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(805-807)aGg>aTg		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						136.0	100.0	112.0					21																	45175625		2203	4300	6503	SO:0001583	missense	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45175625G>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.806G>T	21.37:g.45175625G>T	ENSP00000291565:p.Arg269Met					PDXK_ENST00000467908.1_Missense_Mutation_p.R229M|PDXK_ENST00000468090.1_Missense_Mutation_p.R241M	p.R269M	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	10	989	+			269					Q7Z2Y0|Q9BS02	Missense_Mutation	SNP	ENST00000291565.4	37	c.806G>T	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658347	0.88154	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000467908	T;T;T	0.76316	-1.01;-1.01;-1.01	5.14	4.25	0.50352	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.92170	0.5743	10	0.72032	D	0.01	-35.7593	13.2583	0.60091	0.0778:0.0:0.9222:0.0	.	241;269	O00764-2;O00764	.;PDXK_HUMAN	M	241;269;229	ENSP00000418359:R241M;ENSP00000291565:R269M;ENSP00000420708:R229M	ENSP00000291565:R269M	R	+	2	0	PDXK	44000053	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.809000	0.91944	1.163000	0.42636	0.655000	0.94253	AGG		0.637	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		33	44	1	0	1.06647e-15	1	1.37037e-15	33	44				
ALX1	8092	broad.mit.edu	37	12	85680716	85680716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85680716C>A	ENST00000316824.3	+	3	772	c.617C>A	c.(616-618)aCc>aAc	p.T206N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	206					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TTTGCTGCCACCTATGATATA	0.368																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(616-618)aCc>aAc		ALX homeobox 1							124.0	112.0	116.0					12																	85680716		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85680716C>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.617C>A	12.37:g.85680716C>A	ENSP00000315417:p.Thr206Asn						p.T206N	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	772	+			206					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.617C>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313097	0.81358	.	.	ENSG00000180318	ENST00000316824	D	0.92911	-3.13	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	L	0.50333	1.59	0.80722	D	1	B	0.19331	0.035	B	0.20384	0.029	D	0.85409	0.1136	10	0.25751	T	0.34	.	20.0044	0.97430	0.0:1.0:0.0:0.0	.	206	Q15699	ALX1_HUMAN	N	206	ENSP00000315417:T206N	ENSP00000315417:T206N	T	+	2	0	ALX1	84204847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.714000	0.92807	0.650000	0.86243	ACC		0.368	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		5	84	1	0	1.23904e-05	1	1.39987e-05	5	84				
ULBP3	79465	broad.mit.edu	37	6	150390163	150390163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150390163C>T	ENST00000367339.2	-	1	68	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ULBP3_ENST00000438272.2_Missense_Mutation_p.A14T			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	14					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		GGAAGAATCGCGAGGCGCGGA	0.677																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(40-42)Gcg>Acg		UL16 binding protein 3							20.0	25.0	23.0					6																	150390163		2202	4295	6497	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150390163C>T	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.40G>A	6.37:g.150390163C>T	ENSP00000356308:p.Ala14Thr					ULBP3_ENST00000438272.2_Missense_Mutation_p.A14T	p.A14T			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	1	68	-		Ovarian(120;0.12)	14					Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.40G>A	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	C	1.466	-0.560984	0.03939	.	.	ENSG00000131019	ENST00000399812;ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00644	6.01;6.01	0.618	-0.438	0.12268	.	.	.	.	.	T	0.00109	0.0003	N	0.02539	-0.55	0.09310	N	1	B;B	0.17852	0.024;0.024	B;B	0.09377	0.004;0.004	T	0.11446	-1.0587	8	0.33940	T	0.23	.	.	.	.	.	14;14	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	T	14	ENSP00000356308:A14T;ENSP00000403562:A14T	ENSP00000253335:A14T	A	-	1	0	ULBP3	150431856	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-3.159000	0.00578	-0.222000	0.09958	-1.087000	0.02190	GCG		0.677	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			9	3	0	0	0	1	0	9	3				
IGFL3	388555	broad.mit.edu	37	19	46627142	46627142	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46627142C>T	ENST00000341415.2	-	3	375		c.e3+1		AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3							extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGGACCTTTACCTGGTACAGC	0.498																																						ENST00000341415.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.e3+1		IGF-like family member 3							168.0	195.0	186.0					19																	46627142		2189	4299	6488	SO:0001630	splice_region_variant	388555					extracellular region	protein binding	g.chr19:46627142C>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.350+1G>A	19.37:g.46627142C>T						AC007193.6_ENST00000597989.1_lincRNA		NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	375	-		Ovarian(192;0.0175)|all_neural(266;0.0476)							Splice_Site	SNP	ENST00000341415.2	37		CCDS33058.1	.	.	.	.	.	.	.	.	.	.	C	1.605	-0.525544	0.04141	.	.	ENSG00000188624	ENST00000341415	.	.	.	1.43	0.343	0.16001	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8128	0.08804	0.0:0.751:0.0:0.249	.	.	.	.	.	-1	.	.	.	-	.	.	IGFL3	51318982	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.003000	0.12901	0.159000	0.19401	-0.474000	0.04947	.		0.498	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393	Intron	18	296	0	0	0	1	0	18	296				
BSCL2	26580	broad.mit.edu	37	11	62472962	62472962	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62472962G>T	ENST00000403550.1	-	2	446	c.23C>A	c.(22-24)cCt>cAt	p.P8H	BSCL2_ENST00000407022.3_Missense_Mutation_p.P8H|BSCL2_ENST00000278893.7_Missense_Mutation_p.P8H|GNG3_ENST00000294117.5_5'Flank|BSCL2_ENST00000405837.1_Missense_Mutation_p.P72H|BSCL2_ENST00000433053.1_Missense_Mutation_p.P72H|BSCL2_ENST00000537604.1_5'UTR|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.P8H|BSCL2_ENST00000360796.5_Missense_Mutation_p.P72H			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	8					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGTAAGGCAGGTACTGGAGG	0.647																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(214-216)cCt>cAt		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							51.0	49.0	50.0					11																	62472962		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62472962G>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.23C>A	11.37:g.62472962G>T	ENSP00000385561:p.Pro8His					BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.P8H|BSCL2_ENST00000278893.7_Missense_Mutation_p.P8H|BSCL2_ENST00000421906.1_Missense_Mutation_p.P8H|BSCL2_ENST00000407022.3_Missense_Mutation_p.P8H|BSCL2_ENST00000405837.1_Missense_Mutation_p.P72H|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.P72H	p.P72H			Q96G97	BSCL2_HUMAN			3	771	-			8					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.215C>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929237	0.92389	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818;ENST00000464544	D;D;D;D;D;D;D;D;D;D	0.91295	-2.75;-2.76;-2.78;-2.76;-2.82;-2.82;-2.82;-2.58;-1.92;-1.81	5.05	5.05	0.67936	.	0.000000	0.64402	U	0.000007	D	0.91673	0.7368	N	0.24115	0.695	0.50171	D	0.999858	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.998;0.999;0.998	D	0.92843	0.6290	10	0.87932	D	0	-7.5618	15.9363	0.79712	0.0:0.0:1.0:0.0	.	8;8;72;8	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	H	72;72;8;72;8;8;8;8;72;8;72;72	ENSP00000385332:P72H;ENSP00000414002:P72H;ENSP00000278893:P8H;ENSP00000354032:P72H;ENSP00000385561:P8H;ENSP00000384080:P8H;ENSP00000413209:P8H;ENSP00000413340:P8H;ENSP00000433888:P72H;ENSP00000434149:P8H	ENSP00000278893:P8H	P	-	2	0	BSCL2	62229538	1.000000	0.71417	0.971000	0.41717	0.965000	0.64279	6.009000	0.70745	2.642000	0.89623	0.462000	0.41574	CCT		0.647	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		14	17	1	0	1.05317e-09	1	1.28483e-09	14	17				
ZNF700	90592	broad.mit.edu	37	19	12059609	12059609	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12059609A>C	ENST00000254321.5	+	4	913	c.770A>C	c.(769-771)aAa>aCa	p.K257T	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.K239T|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAATGTGGTAAATCCTTTACT	0.353																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(715-717)aAa>aCa		zinc finger protein 700							52.0	51.0	52.0					19																	12059609		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059609A>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.770A>C	19.37:g.12059609A>C	ENSP00000254321:p.Lys257Thr					ZNF700_ENST00000254321.5_Missense_Mutation_p.K257T|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	p.K239T			Q9H0M5	ZN700_HUMAN			3	1134	+			257					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.716A>C	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	a	19.02	3.744973	0.69418	.	.	ENSG00000196757	ENST00000254321	T	0.07908	3.15	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25901	0.0631	M	0.84156	2.68	0.33476	D	0.586848	D	0.89917	1.0	D	0.91635	0.999	T	0.33624	-0.9861	9	0.72032	D	0.01	.	6.9083	0.24321	1.0:0.0:0.0:0.0	.	257	Q9H0M5	ZN700_HUMAN	T	257	ENSP00000254321:K257T	ENSP00000254321:K257T	K	+	2	0	ZNF700	11920609	0.670000	0.27512	0.035000	0.18076	0.865000	0.49528	2.794000	0.47853	0.524000	0.28502	0.254000	0.18369	AAA		0.353	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		5	45	0	0	0	1	0	5	45				
STAP1	26228	broad.mit.edu	37	4	68436816	68436816	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68436816C>T	ENST00000265404.2	+	2	217	c.135C>T	c.(133-135)taC>taT	p.Y45Y	STAP1_ENST00000396225.1_Silent_p.Y45Y	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	45	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						ATGAGCATTACTGGACAGAGT	0.294																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(133-135)taC>taT		signal transducing adaptor family member 1							152.0	172.0	165.0					4																	68436816		2203	4299	6502	SO:0001819	synonymous_variant	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436816C>T	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.135C>T	4.37:g.68436816C>T						STAP1_ENST00000396225.1_Silent_p.Y45Y	p.Y45Y	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			2	217	+			45			PH.		B2R980	Silent	SNP	ENST00000265404.2	37	c.135C>T	CCDS3515.1																																																																																				0.294	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		7	215	0	0	0	1	0	7	215				
SATL1	340562	broad.mit.edu	37	X	84363608	84363608	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84363608G>A	ENST00000395409.3	-	0	366				SATL1_ENST00000332921.5_De_novo_Start_OutOfFrame|SATL1_ENST00000509231.1_Missense_Mutation_p.R123C			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGCCTCATGCGTGATTGGCTG	0.542											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395409.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29								spermidine/spermine N1-acetyl transferase-like 1							204.0	128.0	151.0					X																	84363608		692	1591	2283			340562						N-acetyltransferase activity	g.chrX:84363608G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-195C>T	X.37:g.84363608G>A			OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228	SATL1_ENST00000509231.1_Missense_Mutation_p.R123C|SATL1_ENST00000332921.5_De_novo_Start_OutOfFrame				Q86VE3	SATL1_HUMAN			0	366	-								A0AVK7|E9PB72|Q5H8V9	Translation_Start_Site	SNP	ENST00000395409.3	37			.	.	.	.	.	.	.	.	.	.	-	6.446	0.450354	0.12223	.	.	ENSG00000184788	ENST00000509231	T	0.44482	0.92	2.82	-3.99	0.04069	.	.	.	.	.	T	0.14657	0.0354	N	0.08118	0	0.09310	N	0.999999	B	0.28820	0.224	B	0.10450	0.005	T	0.14727	-1.0462	8	.	.	.	.	2.7935	0.05394	0.1374:0.154:0.1359:0.5727	.	123	E9PB72	.	C	123	ENSP00000425421:R123C	.	R	-	1	0	SATL1	84250264	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-1.427000	0.01992	-1.515000	0.00940	CGC		0.542	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		7	9	0	0	0	1	0	7	9				
TRPC1	7220	broad.mit.edu	37	3	142496479	142496479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142496479G>A	ENST00000476941.1	+	5	1124	c.638G>A	c.(637-639)cGt>cAt	p.R213H	TRPC1_ENST00000273482.6_Missense_Mutation_p.R179H	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	213					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CACAGGTTTCGTCTTGATATA	0.279																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(535-537)cGt>cAt		transient receptor potential cation channel, subfamily C, member 1							77.0	74.0	75.0					3																	142496479		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142496479G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.638G>A	3.37:g.142496479G>A	ENSP00000419313:p.Arg213His					TRPC1_ENST00000476941.1_Missense_Mutation_p.R213H	p.R179H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			4	927	+			213					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.536G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282512	0.95489	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.84873	-1.91;-1.91	5.48	5.48	0.80851	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.93203	0.7835	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.93810	0.7109	10	0.87932	D	0	-17.5437	19.3356	0.94316	0.0:0.0:1.0:0.0	.	213;179	P48995;P48995-2	TRPC1_HUMAN;.	H	213;179	ENSP00000419313:R213H;ENSP00000273482:R179H	ENSP00000273482:R179H	R	+	2	0	TRPC1	143979169	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.323000	0.96364	2.555000	0.86185	0.563000	0.77884	CGT		0.279	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		12	29	0	0	0	1	0	12	29				
NFASC	23114	broad.mit.edu	37	1	204913447	204913447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204913447G>A	ENST00000401399.1	+	2	203	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	NFASC_ENST00000338586.6_Missense_Mutation_p.A2T|NFASC_ENST00000404907.1_Missense_Mutation_p.A2T|NFASC_ENST00000367172.4_Missense_Mutation_p.A2T|NFASC_ENST00000403080.1_Missense_Mutation_p.A2T|NFASC_ENST00000513543.1_Missense_Mutation_p.A2T|NFASC_ENST00000360049.4_Missense_Mutation_p.A2T|NFASC_ENST00000339876.6_Missense_Mutation_p.A2T|NFASC_ENST00000367171.4_Missense_Mutation_p.A2T|NFASC_ENST00000367169.4_Missense_Mutation_p.A2T|NFASC_ENST00000404076.1_Missense_Mutation_p.A2T|NFASC_ENST00000539706.1_Missense_Mutation_p.A2T|NFASC_ENST00000367170.4_Missense_Mutation_p.A2T|NFASC_ENST00000338515.6_Missense_Mutation_p.A2T			O94856	NFASC_HUMAN	neurofascin	2					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGAGGATGGCCAGGCAGCC	0.647																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(4-6)Gcc>Acc		neurofascin							39.0	36.0	37.0					1																	204913447		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204913447G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.4G>A	1.37:g.204913447G>A	ENSP00000385637:p.Ala2Thr					NFASC_ENST00000403080.1_Missense_Mutation_p.A2T|NFASC_ENST00000401399.1_Missense_Mutation_p.A2T|NFASC_ENST00000339876.6_Missense_Mutation_p.A2T|NFASC_ENST00000367169.4_Missense_Mutation_p.A2T|NFASC_ENST00000513543.1_Missense_Mutation_p.A2T|NFASC_ENST00000360049.4_Missense_Mutation_p.A2T|NFASC_ENST00000404907.1_Missense_Mutation_p.A2T|NFASC_ENST00000404076.1_Missense_Mutation_p.A2T|NFASC_ENST00000338515.6_Missense_Mutation_p.A2T|NFASC_ENST00000539706.1_Missense_Mutation_p.A2T|NFASC_ENST00000367171.4_Missense_Mutation_p.A2T|NFASC_ENST00000338586.6_Missense_Mutation_p.A2T|NFASC_ENST00000367170.4_Missense_Mutation_p.A2T	p.A2T			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		3	332	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		2					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.4G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633405	0.67015	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543	T;T;T;T;T;T;T;T;T;T;T;T;T;D;T;T	0.85556	-0.09;-0.14;-0.08;-0.08;-0.08;-0.09;-0.02;-0.0;-0.06;-0.55;-0.54;-0.11;-0.08;-2.0;-0.02;-0.0	5.33	5.33	0.75918	.	0.376540	0.19329	N	0.116943	T	0.77322	0.4113	N	0.08118	0	0.30165	N	0.801786	B;B;P;P;B;P	0.51057	0.185;0.372;0.608;0.941;0.372;0.59	B;B;B;P;B;B	0.47044	0.049;0.15;0.188;0.535;0.15;0.144	T	0.76443	-0.2957	10	0.44086	T	0.13	.	15.8689	0.79091	0.0:0.0:1.0:0.0	.	2;2;104;2;2;2	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.	T	2	ENSP00000356140:A2T;ENSP00000356139:A2T;ENSP00000356138:A2T;ENSP00000342128:A2T;ENSP00000344786:A2T;ENSP00000343509:A2T;ENSP00000438614:A2T;ENSP00000353154:A2T;ENSP00000356137:A2T;ENSP00000412161:A2T;ENSP00000384875:A2T;ENSP00000385676:A2T;ENSP00000385637:A2T;ENSP00000427586:A2T;ENSP00000384061:A2T;ENSP00000425908:A2T	ENSP00000295776:A2T	A	+	1	0	NFASC	203180070	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.934000	0.56553	2.779000	0.95612	0.561000	0.74099	GCC		0.647	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		7	12	0	0	0	1	0	7	12				
PRDM11	56981	broad.mit.edu	37	11	45245842	45245842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45245842C>A	ENST00000530656.1	+	7	919	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.L273I|PRDM11_ENST00000263765.4_Missense_Mutation_p.L307I|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	307							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCATTCATCTCTCTGTGCT	0.498																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(919-921)Ctc>Atc		PR domain containing 11							119.0	129.0	126.0					11																	45245842		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45245842C>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.919C>A	11.37:g.45245842C>A	ENSP00000435976:p.Leu307Ile					PRDM11_ENST00000530656.1_Missense_Mutation_p.L307I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.L273I	p.L307I			Q9NQV5	PRD11_HUMAN			8	1168	+			307					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.919C>A		.	.	.	.	.	.	.	.	.	.	C	14.05	2.419769	0.42918	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.49720	0.77;0.77;0.77	5.58	3.66	0.41972	.	0.236843	0.30076	N	0.010472	T	0.27134	0.0665	N	0.14661	0.345	0.22571	N	0.99898	P	0.35575	0.51	B	0.36666	0.23	T	0.09596	-1.0667	10	0.38643	T	0.18	-18.5143	4.7915	0.13250	0.1559:0.5996:0.0:0.2444	.	307	Q9NQV5	PRD11_HUMAN	I	307;307;273	ENSP00000263765:L307I;ENSP00000435976:L307I;ENSP00000394314:L273I	ENSP00000263765:L307I	L	+	1	0	PRDM11	45202418	0.753000	0.28349	0.589000	0.28718	0.972000	0.66771	1.400000	0.34577	0.674000	0.31244	0.655000	0.94253	CTC		0.498	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		84	136	1	0	5.52753e-52	1	7.47658e-52	84	136				
ZMIZ2	83637	broad.mit.edu	37	7	44802966	44802966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802966G>A	ENST00000309315.4	+	13	1937	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R573H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R547H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R579H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R605H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	605					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATCACCTTCCGCAGGATCCAG	0.582																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1813-1815)cGc>cAc		zinc finger, MIZ-type containing 2							97.0	108.0	104.0					7																	44802966		2193	4298	6491	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44802966G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1814G>A	7.37:g.44802966G>A	ENSP00000311778:p.Arg605His					ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R547H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R605H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R573H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R579H	p.R605H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			13	1937	+			605					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1814G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073649	0.94000	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.82	4.82	0.62117	Zinc finger, MIZ-type (2);	0.200569	0.33938	N	0.004405	D	0.90442	0.7007	M	0.79011	2.435	0.80722	D	1	P;P;P	0.43431	0.615;0.807;0.769	P;P;P	0.52758	0.584;0.708;0.682	D	0.91328	0.5087	10	0.59425	D	0.04	-7.6849	17.7538	0.88442	0.0:0.0:1.0:0.0	.	579;605;547	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	H	547;605;605;573;579;608	ENSP00000409648:R547H;ENSP00000311778:R605H;ENSP00000414723:R605H;ENSP00000396601:R573H;ENSP00000265346:R579H	ENSP00000265346:R579H	R	+	2	0	ZMIZ2	44769491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.328000	0.79160	2.521000	0.84997	0.555000	0.69702	CGC		0.582	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		9	156	0	0	0	1	0	9	156				
AKAP7	9465	broad.mit.edu	37	6	131490380	131490380	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131490380G>T	ENST00000431975.2	+	5	654	c.556G>T	c.(556-558)Gga>Tga	p.G186*	AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Nonsense_Mutation_p.G185*|AKAP7_ENST00000368123.4_Nonsense_Mutation_p.G164*	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	186						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GCTGGCAGAAGGAGATCATGT	0.383																																						ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(556-558)Gga>Tga		A kinase (PRKA) anchor protein 7							150.0	152.0	151.0					6																	131490380		2203	4300	6503	SO:0001587	stop_gained	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131490380G>T	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.556G>T	6.37:g.131490380G>T	ENSP00000405252:p.Gly186*					AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000368123.4_Nonsense_Mutation_p.G164*|AKAP7_ENST00000541650.1_Nonsense_Mutation_p.G185*	p.G186*	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	5	654	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Nonsense_Mutation	SNP	ENST00000431975.2	37	c.556G>T	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180362	0.57800	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	.	.	.	5.74	5.74	0.90152	.	0.115998	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.3858	15.4404	0.75178	0.0:0.0:1.0:0.0	.	.	.	.	X	186;185;164	.	ENSP00000357105:G164X	G	+	1	0	AKAP7	131532073	1.000000	0.71417	0.994000	0.49952	0.557000	0.35523	2.978000	0.49305	2.712000	0.92718	0.650000	0.86243	GGA		0.383	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		18	129	1	0	0.000175454	1	0.000192663	18	129				
POLE	5426	broad.mit.edu	37	12	133241015	133241015	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133241015G>A	ENST00000320574.5	-	22	2545	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	POLE_ENST00000535270.1_Silent_p.I807I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	834					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGAAGCAGACGATGCCAGCCA	0.627								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2500-2502)atC>atT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							87.0	70.0	76.0					12																	133241015		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133241015G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2502C>T	12.37:g.133241015G>A						POLE_ENST00000535270.1_Silent_p.I807I	p.I834I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	22	2545	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	834					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.2502C>T	CCDS9278.1																																																																																				0.627	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		14	17	0	0	0	1	0	14	17				
FRMPD2	143162	broad.mit.edu	37	10	49420106	49420106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49420106G>A	ENST00000374201.3	-	13	1804	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A476V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A469V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	501	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GATCAGACTCGCTGGGATGTA	0.547																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1501-1503)gCg>gTg		FERM and PDZ domain containing 2							122.0	98.0	106.0					10																	49420106		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49420106G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1502C>T	10.37:g.49420106G>A	ENSP00000363317:p.Ala501Val					FRMPD2_ENST00000305531.3_Missense_Mutation_p.A476V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A469V	p.A501V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	13	1804	-			501			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1502C>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250678	0.59212	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.77620	-1.11;-1.11;-1.11	5.28	5.28	0.74379	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.83339	0.5233	L	0.42744	1.35	0.09310	N	1	D;D;D	0.89917	1.0;0.977;1.0	D;P;D	0.68039	0.955;0.731;0.955	T	0.75141	-0.3422	9	0.37606	T	0.19	.	16.0713	0.80936	0.0:0.0:1.0:0.0	.	476;501;469	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	501;476;469	ENSP00000363317:A501V;ENSP00000307079:A476V;ENSP00000384339:A469V	ENSP00000307079:A476V	A	-	2	0	FRMPD2	49090112	0.873000	0.30073	0.043000	0.18650	0.677000	0.39632	2.831000	0.48144	2.484000	0.83849	0.561000	0.74099	GCG		0.547	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		10	15	0	0	0	1	0	10	15				
SRRM2	23524	broad.mit.edu	37	16	2812116	2812116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812116G>T	ENST00000301740.8	+	11	2136	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	529	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCCCCAGCGACGTGGCC	0.607																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1585-1587)caG>caT		serine/arginine repetitive matrix 2							64.0	58.0	60.0					16																	2812116		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812116G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1587G>T	16.37:g.2812116G>T	ENSP00000301740:p.Gln529His						p.Q529H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2136	+			529			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1587G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529782	0.27387	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.25749	1.78	5.91	4.96	0.65561	.	0.000000	0.64402	D	0.000020	T	0.33440	0.0863	N	0.24115	0.695	0.27860	N	0.940448	D	0.65815	0.995	D	0.77557	0.99	T	0.10359	-1.0633	10	0.56958	D	0.05	-11.4675	9.0577	0.36416	0.1649:0.0:0.8351:0.0	.	529	Q9UQ35	SRRM2_HUMAN	H	529;529;494	ENSP00000301740:Q529H	ENSP00000301740:Q529H	Q	+	3	2	SRRM2	2752117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.938000	0.48987	1.514000	0.48869	0.655000	0.94253	CAG		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			29	38	1	0	8.16721e-17	1	1.05573e-16	29	38				
TRMT2A	27037	broad.mit.edu	37	22	20100486	20100486	+	Missense_Mutation	SNP	G	G	A	rs200053743		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20100486G>A	ENST00000252136.7	-	11	1982	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	TRMT2A_ENST00000439169.2_Missense_Mutation_p.R550W|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R532W|AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.R532W	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	532					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TACAGCAGCCGCCTGAGGTTC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		15850	0.0		0.0	False		,,,				2504	0.001					ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(1594-1596)Cgg>Tgg		tRNA methyltransferase 2 homolog A (S. cerevisiae)							77.0	74.0	75.0					22																	20100486		2203	4300	6503	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20100486G>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1594C>T	22.37:g.20100486G>A	ENSP00000252136:p.Arg532Trp					TRMT2A_ENST00000404751.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R550W	p.R532W	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			11	1982	-			532					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.1594C>T	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980405	0.53827	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000444845;ENST00000404751;ENST00000439169	T;T;T;T	0.57436	0.4;0.4;0.77;0.42	5.14	1.58	0.23477	.	0.163924	0.53938	D	0.000056	T	0.76198	0.3954	M	0.92367	3.3	0.51233	D	0.999915	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.79784	0.982;0.993;0.97	T	0.82315	-0.0518	10	0.87932	D	0	-16.657	13.2397	0.59989	0.0:0.0:0.5033:0.4967	.	550;532;532	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	W	532;532;80;532;550	ENSP00000252136:R532W;ENSP00000385807:R532W;ENSP00000397744:R80W;ENSP00000395738:R550W	ENSP00000252136:R532W	R	-	1	2	TRMT2A	18480486	1.000000	0.71417	0.975000	0.42487	0.084000	0.17831	2.807000	0.47955	0.704000	0.31869	0.561000	0.74099	CGG		0.607	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		26	36	0	0	0	1	0	26	36				
NIPBL	25836	broad.mit.edu	37	5	36985354	36985354	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36985354G>A	ENST00000282516.8	+	10	2571	c.2072G>A	c.(2071-2073)gGc>gAc	p.G691D	NIPBL_ENST00000448238.2_Missense_Mutation_p.G691D|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	691					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATAATGGCAGATCAGAA	0.408																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2071-2073)gGc>gAc		Nipped-B homolog (Drosophila)							68.0	67.0	68.0					5																	36985354		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985354G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2072G>A	5.37:g.36985354G>A	ENSP00000282516:p.Gly691Asp					NIPBL_ENST00000448238.2_Missense_Mutation_p.G691D|NIPBL_ENST00000504430.1_3'UTR	p.G691D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2571	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		691					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2072G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568869	0.28003	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92647	-3.03;-3.08	5.98	5.08	0.68730	.	0.359030	0.29861	N	0.011009	D	0.85932	0.5812	N	0.14661	0.345	0.32835	D	0.504537	P;P	0.41131	0.622;0.739	B;B	0.42798	0.224;0.398	D	0.85208	0.1019	10	0.13108	T	0.6	.	16.1962	0.82025	0.0:0.1743:0.8257:0.0	.	691;691	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	691	ENSP00000282516:G691D;ENSP00000406266:G691D	ENSP00000282516:G691D	G	+	2	0	NIPBL	37021111	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.883000	0.48554	1.398000	0.46701	0.650000	0.86243	GGC		0.408	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		20	39	0	0	0	1	0	20	39				
ZNF782	158431	broad.mit.edu	37	9	99581278	99581278	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581278A>G	ENST00000481138.1	-	6	1688	c.1027T>C	c.(1027-1029)Tgt>Cgt	p.C343R	ZNF782_ENST00000535338.1_Missense_Mutation_p.C211R|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTCTCTGTACATGGGTGATAA	0.408																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1027-1029)Tgt>Cgt		zinc finger protein 782							152.0	141.0	144.0					9																	99581278		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581278A>G	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1027T>C	9.37:g.99581278A>G	ENSP00000419397:p.Cys343Arg					ZNF782_ENST00000535338.1_Missense_Mutation_p.C211R	p.C343R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1688	-		Acute lymphoblastic leukemia(62;0.0527)	343					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1027T>C	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.73|13.73	2.323616|2.323616	0.41096|0.41096	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.29655|.	1.56;1.56|.	3.52|3.52	1.1|1.1	0.20463|0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.718796|.	0.11507|.	N|.	0.557074|.	T|T	0.73233|0.73233	0.3561|0.3561	M|M	0.89601|0.89601	3.045|3.045	0.40519|0.40519	D|D	0.980811|0.980811	B|.	0.16396|.	0.017|.	B|.	0.12156|.	0.007|.	T|T	0.70988|0.70988	-0.4722|-0.4722	10|5	0.87932|.	D|.	0|.	.|.	4.8024|4.8024	0.13303|0.13303	0.7009:0.1913:0.1077:0.0|0.7009:0.1913:0.1077:0.0	.|.	343|.	Q6ZMW2|.	ZN782_HUMAN|.	R|T	343;211|331	ENSP00000419397:C343R;ENSP00000440624:C211R|.	ENSP00000419397:C343R|.	C|M	-|-	1|2	0|0	ZNF782|ZNF782	98621099|98621099	0.995000|0.995000	0.38212|0.38212	0.023000|0.023000	0.16930|0.16930	0.541000|0.541000	0.35023|0.35023	4.870000|4.870000	0.63035|0.63035	0.225000|0.225000	0.20959|0.20959	0.524000|0.524000	0.50904|0.50904	TGT|ATG		0.408	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		14	218	0	0	0	1	0	14	218				
COL1A1	1277	broad.mit.edu	37	17	48270050	48270050	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48270050G>T	ENST00000225964.5	-	28	1998	c.1880C>A	c.(1879-1881)cCc>cAc	p.P627H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	627	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CTCGCCAGCGGGACCCTGCAC	0.627			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1879-1881)cCc>cAc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						76.0	88.0	84.0					17																	48270050		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48270050G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1880C>A	17.37:g.48270050G>T	ENSP00000225964:p.Pro627His						p.P627H	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			28	1998	-			627			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.1880C>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698529	0.68386	.	.	ENSG00000108821	ENST00000225964	D	0.96967	-4.19	4.87	4.87	0.63330	.	0.140526	0.47852	D	0.000204	D	0.96744	0.8937	L	0.49699	1.58	0.80722	D	1	D	0.60575	0.988	P	0.59221	0.854	D	0.97011	0.9736	10	0.54805	T	0.06	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	627	P02452	CO1A1_HUMAN	H	627	ENSP00000225964:P627H	ENSP00000225964:P627H	P	-	2	0	COL1A1	45625049	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	4.018000	0.57174	2.274000	0.75844	0.555000	0.69702	CCC		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			35	78	1	0	3.33393e-15	1	4.27331e-15	35	78				
BRWD3	254065	broad.mit.edu	37	X	79973207	79973207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79973207C>T	ENST00000373275.4	-	19	2312	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	699					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTATGTCTTCGAAGCCTGAT	0.423																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2095-2097)cGa>cAa		bromodomain and WD repeat domain containing 3							136.0	112.0	120.0					X																	79973207		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79973207C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2096G>A	X.37:g.79973207C>T	ENSP00000362372:p.Arg699Gln					BRWD3_ENST00000473691.1_5'UTR	p.R699Q	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			19	2312	-			699					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2096G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553027	0.27739	.	.	ENSG00000165288	ENST00000373275	T	0.28895	1.59	5.22	4.34	0.51931	.	0.249538	0.38005	N	0.001857	T	0.38612	0.1047	M	0.86651	2.83	0.09310	N	1	P	0.39250	0.665	B	0.35607	0.206	T	0.48410	-0.9038	9	.	.	.	-9.1199	13.4145	0.60961	0.0:0.921:0.0:0.079	.	699	Q6RI45	BRWD3_HUMAN	Q	699	ENSP00000362372:R699Q	.	R	-	2	0	BRWD3	79859863	0.966000	0.33281	0.202000	0.23494	0.039000	0.13416	2.797000	0.47877	2.427000	0.82271	0.538000	0.68166	CGA		0.423	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		33	59	0	0	0	1	0	33	59				
IGHG1	3500	broad.mit.edu	37	14	106208418	106208418	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106208418T>C	ENST00000390548.2	-	0	481							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GCCGTCCACGTACCAGTTGAA	0.597																																						ENST00000390548.2																			0																				156.0	146.0	149.0					14																	106208418		2164	4246	6410			0							g.chr14:106208418T>C	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208418T>C														0	481	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.597	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		66	104	0	0	0	1	0	66	104				
CFP	5199	broad.mit.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47485822C>T	ENST00000396992.3	-	7	1157	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_ENST00000247153.3_Missense_Mutation_p.R346H|CFP_ENST00000377005.2_Missense_Mutation_p.R346H|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	346	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R346H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622																																						ENST00000247153.3																			1	Substitution - Missense(1)	p.R346H(1)	breast(1)	breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(1036-1038)cGc>cAc		complement factor properdin							54.0	45.0	48.0					X																	47485822		2203	4300	6503	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485822C>T	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1037G>A	X.37:g.47485822C>T	ENSP00000380189:p.Arg346His					CFP_ENST00000396992.3_Missense_Mutation_p.R346H|CFP_ENST00000377005.2_Missense_Mutation_p.R346H	p.R346H	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			8	1278	-			346			TSP type-1 5.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.1037G>A	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596291	0.66332	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.80824	-1.42;-1.42;-1.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	M	0.92026	3.265	0.44337	D	0.997221	D;D	0.89917	1.0;0.976	D;P	0.87578	0.998;0.873	D	0.92844	0.6291	10	0.87932	D	0	.	13.2457	0.60022	0.0:1.0:0.0:0.0	.	282;346	B3KVK6;P27918	.;PROP_HUMAN	H	346	ENSP00000380189:R346H;ENSP00000247153:R346H;ENSP00000366204:R346H	ENSP00000247153:R346H	R	-	2	0	CFP	47370766	0.997000	0.39634	0.150000	0.22450	0.883000	0.51084	4.904000	0.63279	2.279000	0.76181	0.468000	0.43344	CGC		0.622	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		12	19	0	0	0	1	0	12	19				
CD40	958	broad.mit.edu	37	20	44746989	44746989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44746989C>T	ENST00000372285.3	+	1	79	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	CD40_ENST00000372276.3_Missense_Mutation_p.R3C	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	3					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CGCTATGGTTCGTCTGCCTCT	0.652									Immune Deficiency with Hyper-IgM																													ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(7-9)Cgt>Tgt		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						63.0	53.0	56.0					20																	44746989		2203	4300	6503	SO:0001583	missense	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44746989C>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.7C>T	20.37:g.44746989C>T	ENSP00000361359:p.Arg3Cys					CD40_ENST00000372276.3_Missense_Mutation_p.R3C|CD40_ENST00000489304.1_Intron	p.R3C	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			1	79	+		Myeloproliferative disorder(115;0.0122)	3					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.7C>T	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	c	16.99	3.275036	0.59649	.	.	ENSG00000101017	ENST00000372285;ENST00000372276	T;D	0.82803	-0.96;-1.65	3.92	1.88	0.25563	.	0.752485	0.10878	N	0.624066	D	0.85566	0.5726	L	0.60455	1.87	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60682	0.878;0.642;0.642	T	0.72124	-0.4385	10	0.42905	T	0.14	-2.1594	6.5236	0.22289	0.0:0.7663:0.0:0.2337	.	3;3;3	P25942-2;P25942;Q6P2H9	.;TNR5_HUMAN;.	C	3	ENSP00000361359:R3C;ENSP00000361350:R3C	ENSP00000361350:R3C	R	+	1	0	CD40	44180396	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	0.086000	0.14935	0.403000	0.25479	0.639000	0.83563	CGT		0.652	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		13	15	0	0	0	1	0	13	15				
OTOL1	131149	broad.mit.edu	37	3	161221326	161221326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:161221326G>A	ENST00000327928.4	+	4	1030	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	344	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCCCGGTCGGCTTTCAGCGC	0.522																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(1030-1032)Gct>Act		otolin 1							42.0	41.0	41.0					3																	161221326		1872	4098	5970	SO:0001583	missense	131149					collagen		g.chr3:161221326G>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1030G>A	3.37:g.161221326G>A	ENSP00000330808:p.Ala344Thr						p.A344T	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			4	1030	+			344			C1q.			Missense_Mutation	SNP	ENST00000327928.4	37	c.1030G>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735556	0.49045	.	.	ENSG00000182447	ENST00000327928	D	0.84873	-1.91	5.23	5.23	0.72850	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.050113	0.85682	D	0.000000	D	0.94631	0.8269	H	0.94847	3.59	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.95915	0.8926	10	0.72032	D	0.01	.	17.3955	0.87444	0.0:0.0:1.0:0.0	.	344	A6NHN0	OTOL1_HUMAN	T	344	ENSP00000330808:A344T	ENSP00000330808:A344T	A	+	1	0	OTOL1	162704020	1.000000	0.71417	0.615000	0.29064	0.012000	0.07955	9.502000	0.97981	2.427000	0.82271	0.557000	0.71058	GCT		0.522	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		5	32	0	0	0	1	0	5	32				
ZNF16	7564	broad.mit.edu	37	8	146156927	146156927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156927G>A	ENST00000276816.4	-	4	1432	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R416W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	416					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGGAGACCCGACTGAAGGGC	0.517																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1246-1248)Cgg>Tgg		zinc finger protein 16							97.0	89.0	92.0					8																	146156927		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156927G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1246C>T	8.37:g.146156927G>A	ENSP00000276816:p.Arg416Trp					ZNF16_ENST00000394909.2_Missense_Mutation_p.R416W	p.R416W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1432	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	416					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1246C>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504589	0.44558	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.36520	1.25;1.25	3.88	2.97	0.34412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.33245	0.995	0.22866	N	0.998633	D	0.89917	1.0	D	0.65443	0.935	T	0.13791	-1.0496	9	0.40728	T	0.16	.	7.6669	0.28437	0.0:0.1812:0.632:0.1868	.	416	P17020	ZNF16_HUMAN	W	416	ENSP00000276816:R416W;ENSP00000378369:R416W	ENSP00000276816:R416W	R	-	1	2	ZNF16	146127731	0.000000	0.05858	0.923000	0.36655	0.990000	0.78478	-1.661000	0.01972	0.787000	0.33731	0.462000	0.41574	CGG		0.517	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		17	36	0	0	0	1	0	17	36				
TYK2	7297	broad.mit.edu	37	19	10463181	10463181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463181C>A	ENST00000525621.1	-	23	3728	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D1083Y|TYK2_ENST00000524462.1_Missense_Mutation_p.D898Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1083	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GACCAGACATCTGACGCATAG	0.647																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3247-3249)Gat>Tat		tyrosine kinase 2							87.0	86.0	87.0					19																	10463181		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463181C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3247G>T	19.37:g.10463181C>A	ENSP00000431885:p.Asp1083Tyr					TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D1083Y|TYK2_ENST00000524462.1_Missense_Mutation_p.D898Y	p.D1083Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		23	3728	-			1083			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.3247G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641299	0.87859	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	5.35	5.35	0.76521	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.573286	0.15048	N	0.283464	D	0.99315	0.9760	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99655	1.0992	9	.	.	.	-36.9142	16.6125	0.84892	0.0:1.0:0.0:0.0	.	1083	P29597	TYK2_HUMAN	Y	898;1083;1083;830;106	ENSP00000433203:D898Y;ENSP00000431885:D1083Y;ENSP00000264818:D1083Y;ENSP00000436155:D106Y	.	D	-	1	0	TYK2	10324181	1.000000	0.71417	0.422000	0.26621	0.832000	0.47134	5.575000	0.67430	2.529000	0.85273	0.549000	0.68633	GAT		0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			43	57	1	0	2.64894e-19	1	3.46538e-19	43	57				
ULBP3	79465	broad.mit.edu	37	6	150387219	150387219	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150387219C>A	ENST00000367339.2	-	2	196	c.168G>T	c.(166-168)caG>caT	p.Q56H	ULBP3_ENST00000438272.2_Missense_Mutation_p.Q56H			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	56	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCTGATCCACCTGGCTCTGGA	0.463																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(166-168)caG>caT		UL16 binding protein 3							126.0	115.0	119.0					6																	150387219		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150387219C>A	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.168G>T	6.37:g.150387219C>A	ENSP00000356308:p.Gln56His					ULBP3_ENST00000438272.2_Missense_Mutation_p.Q56H	p.Q56H			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	2	196	-		Ovarian(120;0.12)	56			MHC class I alpha-1 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.168G>T	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753125	0.15778	.	.	ENSG00000131019	ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00695	5.83;5.83	3.17	-0.732	0.11147	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00468	0.0015	M	0.71036	2.16	0.09310	N	1	P	0.42584	0.784	P	0.48400	0.576	T	0.40175	-0.9577	9	0.20046	T	0.44	-2.259	0.7456	0.00981	0.1937:0.3695:0.2301:0.2067	.	56	Q9BZM4	N2DL3_HUMAN	H	56	ENSP00000356308:Q56H;ENSP00000403562:Q56H	ENSP00000253335:Q56H	Q	-	3	2	ULBP3	150428912	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.548000	0.02184	-0.162000	0.10964	0.478000	0.44815	CAG		0.463	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			4	79	1	0	0.217242	1	0.218821	4	79				
CDH18	1016	broad.mit.edu	37	5	19571703	19571703	+	Missense_Mutation	SNP	G	G	T	rs17856908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:19571703G>T	ENST00000507958.1	-	10	2228	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N	CDH18_ENST00000502796.1_Missense_Mutation_p.T413N|CDH18_ENST00000274170.4_Missense_Mutation_p.T413N|CDH18_ENST00000511273.1_Missense_Mutation_p.T413N|CDH18_ENST00000382275.1_Missense_Mutation_p.T413N|CDH18_ENST00000506372.1_Missense_Mutation_p.T413N			Q13634	CAD18_HUMAN	cadherin 18, type 2	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.			T -> I (in Ref. 5; AAH31051). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAAGCTGTTAGTACTGTCAGG	0.378																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1237-1239)aCt>aAt		cadherin 18, type 2							147.0	125.0	133.0					5																	19571703		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571703G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1238C>A	5.37:g.19571703G>T	ENSP00000425093:p.Thr413Asn					CDH18_ENST00000511273.1_Missense_Mutation_p.T413N|CDH18_ENST00000382275.1_Missense_Mutation_p.T413N|CDH18_ENST00000506372.1_Missense_Mutation_p.T413N|CDH18_ENST00000274170.4_Missense_Mutation_p.T413N|CDH18_ENST00000502796.1_Missense_Mutation_p.T413N	p.T413N			Q13634	CAD18_HUMAN			10	2228	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		413	T -> I (in Ref. 4; AAH31051).		Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1238C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225830	0.39300	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.7;0.23	5.17	5.17	0.71159	Cadherin (4);Cadherin-like (1);	0.342996	0.32624	N	0.005853	T	0.58438	0.2122	L	0.44542	1.39	0.22213	N	0.999289	B;B	0.29671	0.042;0.254	B;B	0.40565	0.18;0.333	T	0.52170	-0.8611	9	.	.	.	.	17.5963	0.88013	0.0:0.0:1.0:0.0	.	413;413	B4DHG6;Q13634	.;CAD18_HUMAN	N	413;413;413;413;413;413;359;413	ENSP00000371710:T413N;ENSP00000425093:T413N;ENSP00000274170:T413N;ENSP00000424931:T413N;ENSP00000422138:T413N;ENSP00000427383:T359N;ENSP00000425854:T413N	.	T	-	2	0	CDH18	19607460	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.154000	0.58125	2.591000	0.87537	0.655000	0.94253	ACT		0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		33	43	1	0	5.43694e-19	1	7.10666e-19	33	43				
POLR1B	84172	broad.mit.edu	37	2	113326468	113326468	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326468A>G	ENST00000263331.5	+	12	2643	c.2063A>G	c.(2062-2064)cAa>cGa	p.Q688R	POLR1B_ENST00000409894.3_Missense_Mutation_p.Q505R|POLR1B_ENST00000541869.1_Missense_Mutation_p.Q726R|POLR1B_ENST00000417433.2_Missense_Mutation_p.Q632R|POLR1B_ENST00000537335.1_Missense_Mutation_p.Q477R	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	688					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACATGTACCAATGCCAGATG	0.438																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2062-2064)cAa>cGa		polymerase (RNA) I polypeptide B, 128kDa							130.0	97.0	109.0					2																	113326468		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113326468A>G	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2063A>G	2.37:g.113326468A>G	ENSP00000263331:p.Gln688Arg					POLR1B_ENST00000537335.1_Missense_Mutation_p.Q477R|POLR1B_ENST00000409894.3_Missense_Mutation_p.Q505R|POLR1B_ENST00000541869.1_Missense_Mutation_p.Q726R|POLR1B_ENST00000417433.2_Missense_Mutation_p.Q632R	p.Q688R	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			12	2643	+			688					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.2063A>G	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781858	0.90282	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	6.07	6.07	0.98685	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	H	0.96633	3.855	0.80722	D	1	D;P;D;D	0.89917	1.0;0.493;1.0;1.0	D;B;D;D	0.91635	0.999;0.178;0.996;0.999	D	0.95236	0.8347	10	0.87932	D	0	-24.2688	15.6114	0.76721	1.0:0.0:0.0:0.0	.	726;505;632;688	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	R	688;726;505;477;632;47	ENSP00000263331:Q688R;ENSP00000444136:Q726R;ENSP00000387143:Q505R;ENSP00000437914:Q477R;ENSP00000405358:Q632R	ENSP00000263331:Q688R	Q	+	2	0	POLR1B	113042939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.844000	0.92147	2.326000	0.78906	0.533000	0.62120	CAA		0.438	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		3	27	0	0	0	1	0	3	27				
SLC34A1	6569	broad.mit.edu	37	5	176824065	176824065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176824065G>A	ENST00000324417.5	+	12	1497	c.1406G>A	c.(1405-1407)aGc>aAc	p.S469N	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTGTCCAGCGCTTTCCAG	0.627																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1405-1407)aGc>aAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							28.0	27.0	27.0					5																	176824065		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824065G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1406G>A	5.37:g.176824065G>A	ENSP00000321424:p.Ser469Asn					SLC34A1_ENST00000513614.1_3'UTR	p.S469N	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1497	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	469					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1406G>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	2.554	-0.303381	0.05495	.	.	ENSG00000131183	ENST00000324417	D	0.85702	-2.02	5.39	5.39	0.77823	.	0.253980	0.47455	D	0.000233	T	0.66127	0.2758	N	0.02334	-0.595	0.09310	N	0.999996	B	0.20368	0.044	B	0.25140	0.058	T	0.51364	-0.8715	10	0.13470	T	0.59	-20.8611	12.5004	0.55952	0.076:0.0:0.924:0.0	.	469	Q06495	NPT2A_HUMAN	N	469	ENSP00000321424:S469N	ENSP00000321424:S469N	S	+	2	0	SLC34A1	176756671	0.998000	0.40836	0.058000	0.19502	0.003000	0.03518	3.321000	0.51999	2.526000	0.85167	0.561000	0.74099	AGC		0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		9	15	0	0	0	1	0	9	15				
USP26	83844	broad.mit.edu	37	X	132161017	132161017	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161017A>G	ENST00000511190.1	-	6	1701	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	USP26_ENST00000370832.1_Missense_Mutation_p.F411S|USP26_ENST00000406273.1_Missense_Mutation_p.F411S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	411	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCCCCAAATTCACTTTT	0.373																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1231-1233)tTt>tCt		ubiquitin specific peptidase 26							76.0	75.0	75.0					X																	132161017		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161017A>G	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1232T>C	X.37:g.132161017A>G	ENSP00000423390:p.Phe411Ser					USP26_ENST00000406273.1_Missense_Mutation_p.F411S|USP26_ENST00000370832.1_Missense_Mutation_p.F411S	p.F411S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1701	-	Acute lymphoblastic leukemia(192;0.000127)		411					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1232T>C	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	a	0.094	-1.162156	0.01673	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.51325	0.71;0.71;0.71	3.4	-1.92	0.07618	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.264524	0.21489	N	0.073717	T	0.08582	0.0213	N	0.00182	-1.905	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.35822	-0.9773	10	0.02654	T	1	-2.4302	5.1624	0.15068	0.3848:0.1443:0.4709:0.0	.	411	Q9BXU7	UBP26_HUMAN	S	411	ENSP00000359869:F411S;ENSP00000423390:F411S;ENSP00000384360:F411S	ENSP00000359869:F411S	F	-	2	0	USP26	131988683	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.016000	0.12613	-0.626000	0.05596	-0.528000	0.04320	TTT		0.373	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		43	90	0	0	0	1	0	43	90				
FOXP2	93986	broad.mit.edu	37	7	114304486	114304486	+	Silent	SNP	G	G	A	rs547912850	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114304486G>A	ENST00000393494.2	+	16	2277	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	FOXP2_ENST00000393489.3_Silent_p.P574P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Silent_p.P666P|FOXP2_ENST00000408937.3_Silent_p.P691P|FOXP2_ENST00000393491.3_Silent_p.P481P|FOXP2_ENST00000403559.4_Silent_p.P683P|FOXP2_ENST00000393498.2_Silent_p.P645P			O15409	FOXP2_HUMAN	forkhead box P2	666					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCTCAGCCGCACATGTAAG	0.428																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(2071-2073)ccG>ccA		forkhead box P2							57.0	56.0	57.0					7																	114304486		2203	4300	6503	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114304486G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1998G>A	7.37:g.114304486G>A						FOXP2_ENST00000393494.2_Silent_p.P666P|FOXP2_ENST00000393491.3_Silent_p.P481P|FOXP2_ENST00000403559.4_Silent_p.P683P|FOXP2_ENST00000393489.3_Silent_p.P574P|FOXP2_ENST00000393498.2_Silent_p.P645P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Silent_p.P666P	p.P691P	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			17	2447	+			666					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.2073G>A	CCDS5760.1																																																																																				0.428	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		14	43	0	0	0	1	0	14	43				
L1CAM	3897	broad.mit.edu	37	X	153130424	153130424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153130424C>T	ENST00000370060.1	-	23	3087	c.2898G>A	c.(2896-2898)ctG>ctA	p.L966L	L1CAM_ENST00000361699.4_Silent_p.L966L|L1CAM_ENST00000538883.1_Silent_p.L968L|L1CAM_ENST00000543994.1_Silent_p.L968L|L1CAM_ENST00000361981.3_Silent_p.L961L|L1CAM_ENST00000370057.3_Silent_p.L966L|L1CAM_ENST00000370055.1_Silent_p.L961L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	966	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGAAGGACAGTTGCCCCT	0.652																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2896-2898)ctG>ctA		L1 cell adhesion molecule							130.0	109.0	116.0					X																	153130424		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130424C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2898G>A	X.37:g.153130424C>T						L1CAM_ENST00000361981.3_Silent_p.L961L|L1CAM_ENST00000370057.3_Silent_p.L966L|L1CAM_ENST00000370055.1_Silent_p.L961L|L1CAM_ENST00000361699.4_Silent_p.L966L|L1CAM_ENST00000543994.1_Silent_p.L968L|L1CAM_ENST00000538883.1_Silent_p.L968L	p.L966L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			23	3087	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		966			Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.2898G>A	CCDS14733.1																																																																																				0.652	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		51	81	0	0	0	1	0	51	81				
TMEM8A	58986	broad.mit.edu	37	16	426671	426671	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:426671G>A	ENST00000431232.2	-	5	937	c.777C>T	c.(775-777)acC>acT	p.T259T	TMEM8A_ENST00000250930.3_Silent_p.T66T|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	259					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGGGGCACCGGTGCAGGTGA	0.706																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(775-777)acC>acT		transmembrane protein 8A							22.0	28.0	26.0					16																	426671		2189	4292	6481	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:426671G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.777C>T	16.37:g.426671G>A						TMEM8A_ENST00000250930.3_Silent_p.T66T	p.T259T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			5	937	-			259					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.777C>T	CCDS10407.1																																																																																				0.706	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		7	3	0	0	0	1	0	7	3				
FAM83H	286077	broad.mit.edu	37	8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C	rs370499410		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1133					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGCTGTACACGCGCTT	0.701																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3397-3399)tAc>tGc		family with sequence similarity 83, member H			CYS/TYR	0,4092		0,0,2046	18.0	21.0	20.0		3398	2.5	1.0	8		20	1,8343		0,1,4171	no	missense	FAM83H	NM_198488.3	194	0,1,6217	CC,CT,TT		0.012,0.0,0.0080	probably-damaging	1133/1180	144808233	1,12435	2046	4172	6218	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808233T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3398A>G	8.37:g.144808233T>C	ENSP00000373565:p.Tyr1133Cys						p.Y1133C	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3523	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1133					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3398A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	18.32	3.597478	0.66332	0.0	1.2E-4	ENSG00000180921	ENST00000388913	T	0.51071	0.72	4.96	2.54	0.30619	.	0.000000	0.44285	U	0.000468	T	0.32675	0.0837	L	0.34521	1.04	0.37329	D	0.909905	P	0.38992	0.653	B	0.34652	0.187	T	0.25467	-1.0131	10	0.72032	D	0.01	.	8.6592	0.34081	0.0:0.1592:0.0:0.8408	.	1133	Q6ZRV2	FA83H_HUMAN	C	1133	ENSP00000373565:Y1133C	ENSP00000373565:Y1133C	Y	-	2	0	FAM83H	144880221	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	7.897000	0.87356	0.248000	0.21435	0.454000	0.30748	TAC		0.701	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		3	21	0	0	0	1	0	3	21				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452367	100452367	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452367A>G	ENST00000279907.7	-	14	2900	c.2688T>C	c.(2686-2688)gaT>gaC	p.D896D	UHRF1BP1L_ENST00000545232.2_Silent_p.D546D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	896										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAGGCAAATAATCAGGTACCA	0.363																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2686-2688)gaT>gaC		UHRF1 binding protein 1-like							44.0	46.0	45.0					12																	100452367		2203	4299	6502	SO:0001819	synonymous_variant	23074							g.chr12:100452367A>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2688T>C	12.37:g.100452367A>G						UHRF1BP1L_ENST00000545232.2_Silent_p.D546D	p.D896D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2900	-			896					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2688T>C	CCDS31882.1																																																																																				0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		24	36	0	0	0	1	0	24	36				
TCF21	6943	broad.mit.edu	37	6	134210781	134210781	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134210781C>T	ENST00000367882.4	+	1	506	c.246C>T	c.(244-246)aaC>aaT	p.N82N	TCF21_ENST00000237316.3_Silent_p.N82N|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.N82N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCCAGCGCAACGCCGCCAACG	0.701																																						ENST00000367882.4																			1	Substitution - coding silent(1)	p.N82N(1)	cervix(1)	cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(244-246)aaC>aaT		transcription factor 21							43.0	50.0	48.0					6																	134210781		2203	4299	6502	SO:0001819	synonymous_variant	0				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210781C>T	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.246C>T	6.37:g.134210781C>T						RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.N82N	p.N82N	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	506	+	Colorectal(23;0.221)|Breast(56;0.247)		82					E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	ENST00000367882.4	37	c.246C>T	CCDS5167.1																																																																																				0.701	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		14	26	0	0	0	1	0	14	26				
DHX38	9785	broad.mit.edu	37	16	72139482	72139482	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72139482G>A	ENST00000268482.3	+	18	2955	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	DHX38_ENST00000536867.1_Missense_Mutation_p.G128S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	816	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CACTGTTGACGGCATCATGTT	0.483																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2446-2448)Ggc>Agc		DEAH (Asp-Glu-Ala-His) box polypeptide 38							135.0	115.0	122.0					16																	72139482		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72139482G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2446G>A	16.37:g.72139482G>A	ENSP00000268482:p.Gly816Ser					DHX38_ENST00000536867.1_Missense_Mutation_p.G128S	p.G816S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			18	2955	+		Ovarian(137;0.125)	816			Helicase C-terminal.		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2446G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	36	5.813541	0.96975	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.03212	4.01;4.01	5.8	5.8	0.92144	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.36065	-0.9763	10	0.87932	D	0	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	128;816	B4DVG8;Q92620	.;PRP16_HUMAN	S	816;128	ENSP00000268482:G816S;ENSP00000437898:G128S	ENSP00000268482:G816S	G	+	1	0	DHX38	70696983	1.000000	0.71417	0.974000	0.42286	0.896000	0.52359	9.824000	0.99380	2.735000	0.93741	0.655000	0.94253	GGC		0.483	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		3	78	0	0	0	1	0	3	78				
KLHL14	57565	broad.mit.edu	37	18	30260222	30260222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260222G>A	ENST00000359358.4	-	7	1936	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	500						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTTGTTTTCGAGCCCAGACA	0.383																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1498-1500)Cga>Tga		kelch-like family member 14							164.0	143.0	150.0					18																	30260222		2203	4300	6503	SO:0001587	stop_gained	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260222G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1498C>T	18.37:g.30260222G>A	ENSP00000352314:p.Arg500*						p.R500*	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			7	1936	-			500					A6NNW1|B4DHA0|Q8WU41	Nonsense_Mutation	SNP	ENST00000359358.4	37	c.1498C>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	41	8.888790	0.98992	.	.	ENSG00000197705	ENST00000359358	.	.	.	5.87	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	14.2337	0.65911	0.0:0.0:0.6237:0.3762	.	.	.	.	X	500	.	ENSP00000352314:R500X	R	-	1	2	KLHL14	28514220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.522000	0.35921	1.435000	0.47434	0.655000	0.94253	CGA		0.383	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			46	55	0	0	0	1	0	46	55				
HNRNPH2	3188	broad.mit.edu	37	X	100667626	100667626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667626G>T	ENST00000316594.5	+	2	728	c.650G>T	c.(649-651)aGa>aTa	p.R217I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	217					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGGGCTGGCAGAGGGTATAAT	0.537																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(649-651)aGa>aTa		heterogeneous nuclear ribonucleoprotein H2 (H')							58.0	54.0	55.0					X																	100667626		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667626G>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.650G>T	X.37:g.100667626G>T	ENSP00000361927:p.Arg217Ile						p.R217I	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	728	+			217					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.650G>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866269	0.71949	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.12569	2.67	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.83692	2.655	0.80722	D	1	D	0.65815	0.995	D	0.66351	0.943	T	0.31613	-0.9937	10	0.59425	D	0.04	-0.9384	14.0894	0.64980	0.0:0.0:1.0:0.0	.	217	P55795	HNRH2_HUMAN	I	172;217	ENSP00000361927:R217I	ENSP00000361927:R217I	R	+	2	0	HNRNPH2	100554282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.562000	0.98145	2.288000	0.76882	0.513000	0.50165	AGA		0.537	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		11	60	1	0	2.80697e-09	1	3.39963e-09	11	60				
RRP12	23223	broad.mit.edu	37	10	99132933	99132933	+	Missense_Mutation	SNP	C	C	T	rs182519643		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99132933C>T	ENST00000370992.4	-	18	2162	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	RRP12_ENST00000536831.1_Missense_Mutation_p.R402H|RRP12_ENST00000315563.6_Missense_Mutation_p.R584H|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.R623H	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	684						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGGCAAAGCGACTCACTTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		21033	0.001		0.0	False		,,,				2504	0.0					ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2050-2052)cGc>cAc		ribosomal RNA processing 12 homolog (S. cerevisiae)							56.0	58.0	57.0					10																	99132933		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99132933C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2051G>A	10.37:g.99132933C>T	ENSP00000360031:p.Arg684His					RRP12_ENST00000414986.1_Missense_Mutation_p.R623H|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.R584H|RRP12_ENST00000536831.1_Missense_Mutation_p.R402H	p.R684H	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	18	2162	-		Colorectal(252;0.162)	684					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2051G>A	CCDS7457.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.51	3.408533	0.62399	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.089522	0.85682	N	0.000000	T	0.73753	0.3627	M	0.61703	1.905	0.80722	D	1	D;P;D;D	0.89917	0.999;0.661;1.0;0.999	P;B;D;P	0.66084	0.847;0.157;0.941;0.847	T	0.72903	-0.4151	10	0.35671	T	0.21	-15.1713	13.9887	0.64353	0.0:0.9266:0.0:0.0734	.	623;584;402;684	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	H	684;584;623;402	ENSP00000360031:R684H;ENSP00000324315:R584H;ENSP00000414863:R623H;ENSP00000446184:R402H	ENSP00000324315:R584H	R	-	2	0	RRP12	99122923	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	5.768000	0.68858	1.302000	0.44855	0.313000	0.20887	CGC		0.592	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		17	33	0	0	0	1	0	17	33				
E2F8	79733	broad.mit.edu	37	11	19247037	19247037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19247037G>T	ENST00000527884.1	-	12	2384	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L718I|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	718					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTGAAGCGAGAGCCGGGCTG	0.527																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2152-2154)Ctc>Atc		E2F transcription factor 8							90.0	82.0	85.0					11																	19247037		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247037G>T		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2152C>A	11.37:g.19247037G>T	ENSP00000434199:p.Leu718Ile					E2F8_ENST00000250024.4_Missense_Mutation_p.L718I|RP11-428C19.4_ENST00000527978.1_RNA	p.L718I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			12	2384	-			718					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2152C>A	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284894	0.40394	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.22134	1.97;1.97	5.98	5.98	0.97165	.	0.390869	0.26991	N	0.021465	T	0.29684	0.0741	M	0.70595	2.14	0.31373	N	0.679909	P	0.50528	0.936	P	0.45037	0.467	T	0.30149	-0.9988	10	0.21540	T	0.41	-6.137	16.3296	0.83005	0.0:0.1321:0.8678:0.0	.	718	A0AVK6	E2F8_HUMAN	I	718	ENSP00000434199:L718I;ENSP00000250024:L718I	ENSP00000250024:L718I	L	-	1	0	E2F8	19203613	1.000000	0.71417	0.965000	0.40720	0.876000	0.50452	3.024000	0.49674	2.838000	0.97847	0.591000	0.81541	CTC		0.527	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		30	46	1	0	1.80694e-10	1	2.22694e-10	30	46				
FCGR3A	2214	broad.mit.edu	37	1	161599807	161599807	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161599807A>G	ENST00000540048.1	-	2	94				FCGR3B_ENST00000294800.3_Missense_Mutation_p.V27A|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V63A|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.V27A			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.562																																						ENST00000294800.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.(79-81)gTg>gCg		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						39.0	44.0	42.0					1																	161599807		2078	4229	6307	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599807A>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+350T>C	1.37:g.161599807A>G						FCGR3B_ENST00000367964.2_Missense_Mutation_p.V27A|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V63A|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron	p.V27A	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	353	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		27					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.80T>C		.	.	.	.	.	.	.	.	.	.	A	18.01	3.527070	0.64860	.	.	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	2.79	1.59	0.23543	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.962804	0.08547	N	0.929523	T	0.13114	0.0318	M	0.92412	3.305	0.27447	N	0.95354	D	0.58620	0.983	P	0.53689	0.732	T	0.08554	-1.0716	10	0.87932	D	0	.	5.1001	0.14754	0.7372:0.0:0.0:0.2628	.	27	O75015	FCG3B_HUMAN	A	27;27;63;10	ENSP00000356941:V27A;ENSP00000294800:V27A;ENSP00000433642:V63A;ENSP00000437084:V10A	ENSP00000294800:V27A	V	-	2	0	FCGR3B	159866431	0.485000	0.25972	0.930000	0.37139	0.480000	0.33159	1.095000	0.30964	0.279000	0.22186	0.319000	0.21371	GTG		0.562	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		18	25	0	0	0	1	0	18	25				
NUMA1	4926	broad.mit.edu	37	11	71726774	71726774	+	Missense_Mutation	SNP	C	C	T	rs147334088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726774C>T	ENST00000393695.3	-	15	2106	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R592Q	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAGGCCTCTCGCTCCTCTGC	0.597			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1774-1776)cGa>cAa		nuclear mitotic apparatus protein 1							64.0	64.0	64.0					11																	71726774		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726774C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1775G>A	11.37:g.71726774C>T	ENSP00000377298:p.Arg592Gln		OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R592Q|RP11-849H4.4_ENST00000502284.1_RNA	p.R592Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	2106	-			592						Missense_Mutation	SNP	ENST00000393695.3	37	c.1775G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085489	0.20390	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.41758	2.75;2.78;1.57;0.99	6.07	-1.16	0.09678	.	0.711371	0.13129	N	0.411592	T	0.21631	0.0521	L	0.31065	0.9	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.17715	-1.0360	10	0.16896	T	0.51	.	2.1267	0.03740	0.1339:0.2897:0.1188:0.4576	.	598;76;592;592	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	Q	592;592;155;592;592	ENSP00000351851:R592Q;ENSP00000377298:R592Q;ENSP00000444880:R592Q;ENSP00000442936:R592Q	ENSP00000351851:R592Q	R	-	2	0	NUMA1	71404422	0.000000	0.05858	0.300000	0.25030	0.370000	0.29829	-0.937000	0.03942	0.072000	0.16694	-0.274000	0.10170	CGA		0.597	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			6	73	0	0	0	1	0	6	73				
PLEKHA5	54477	broad.mit.edu	37	12	19418708	19418708	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:19418708G>T	ENST00000299275.6	+	8	641	c.635G>T	c.(634-636)gGa>gTa	p.G212V	PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G104V|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G212V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G212V|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G104V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G212V|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G212V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G212V|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.G212V	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	212	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTATCCTGGGAAGCATACTG	0.313																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(634-636)gGa>gTa		pleckstrin homology domain containing, family A member 5							132.0	132.0	132.0					12																	19418708		2203	4299	6502	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19418708G>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.635G>T	12.37:g.19418708G>T	ENSP00000299275:p.Gly212Val					PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G212V|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G212V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G212V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.G212V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G212V|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G104V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G212V|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G104V	p.G212V	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			8	639	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		212			PH.		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.635G>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926588	0.92319	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.63	5.63	0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	M	0.93241	3.395	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	1.0;1.0;1.0;1.0;1.0;1.0	T	0.71087	-0.4694	10	0.87932	D	0	-31.2836	19.6667	0.95895	0.0:0.0:1.0:0.0	.	212;104;104;212;212;212	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	V	212;212;212;212;212;212;212;212;212;104;104;104;104	ENSP00000325155:G212V;ENSP00000347560:G212V;ENSP00000352104:G212V;ENSP00000311239:G212V;ENSP00000404296:G212V;ENSP00000299275:G212V;ENSP00000439673:G212V;ENSP00000446308:G104V;ENSP00000400411:G104V;ENSP00000439837:G104V;ENSP00000440371:G104V	ENSP00000299275:G212V	G	+	2	0	PLEKHA5	19309975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.270000	0.95690	2.632000	0.89209	0.650000	0.86243	GGA		0.313	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		4	77	1	0	0.00024832	1	0.0002712	4	77				
RHBG	57127	broad.mit.edu	37	1	156347153	156347153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156347153G>T	ENST00000368249.1	+	2	287	c.249G>T	c.(247-249)caG>caT	p.Q83H	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Missense_Mutation_p.Q14H|RHBG_ENST00000451864.2_Missense_Mutation_p.Q14H|RHBG_ENST00000400992.2_Missense_Mutation_p.Q14H|RHBG_ENST00000368246.2_Missense_Mutation_p.Q83H	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	83					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTTCCTGCAGCGTTACGGCT	0.642																																						ENST00000400992.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(40-42)caG>caT		Rh family, B glycoprotein (gene/pseudogene)							134.0	138.0	137.0					1																	156347153		2203	4300	6503	SO:0001583	missense	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156347153G>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.249G>T	1.37:g.156347153G>T	ENSP00000357232:p.Gln83His					RHBG_ENST00000451864.2_Missense_Mutation_p.Q14H|RHBG_ENST00000368249.1_Missense_Mutation_p.Q83H|RHBG_ENST00000368246.2_Missense_Mutation_p.Q83H|RHBG_ENST00000255013.3_Missense_Mutation_p.Q14H|RHBG_ENST00000537040.1_Intron	p.Q14H			Q9H310	RHBG_HUMAN			3	410	+	Hepatocellular(266;0.158)		83					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37	c.42G>T		.	.	.	.	.	.	.	.	.	.	G	12.85	2.060530	0.36373	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.06	1.96	0.26148	Ammonium transporter AmtB-like (3);	0.268868	0.39407	N	0.001378	T	0.14313	0.0346	M	0.80183	2.485	0.47511	D	0.999446	B;B;B	0.25169	0.007;0.035;0.119	B;B;B	0.23275	0.007;0.045;0.026	T	0.05305	-1.0893	10	0.87932	D	0	-22.264	5.6468	0.17594	0.2715:0.1489:0.5795:0.0	.	83;14;120	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	H	83;83;14;14;14	ENSP00000357232:Q83H;ENSP00000357229:Q83H;ENSP00000383777:Q14H;ENSP00000255013:Q14H;ENSP00000389836:Q14H	ENSP00000255013:Q14H	Q	+	3	2	RHBG	154613777	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	1.525000	0.35953	0.711000	0.32018	-0.291000	0.09656	CAG		0.642	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		58	122	1	0	1.80625e-27	1	2.41067e-27	58	122				
MEPCE	56257	broad.mit.edu	37	7	100028273	100028273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100028273C>T	ENST00000310512.2	+	1	1020	c.632C>T	c.(631-633)gCg>gTg	p.A211V	ZCWPW1_ENST00000324725.6_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	211					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCTCAACGCGGAGACCCCT	0.552																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(631-633)gCg>gTg		methylphosphate capping enzyme							82.0	83.0	83.0					7																	100028273		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028273C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.632C>T	7.37:g.100028273C>T	ENSP00000308546:p.Ala211Val					MEPCE_ENST00000414441.1_5'UTR	p.A211V	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1020	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		211					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.632C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208233	0.58343	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	L	0.52011	1.625	0.49299	D	0.999776	D	0.89917	1.0	D	0.69142	0.962	T	0.75233	-0.3390	9	0.62326	D	0.03	-1.275	15.5198	0.75857	0.0:1.0:0.0:0.0	.	211	Q7L2J0	MEPCE_HUMAN	V	211	.	ENSP00000308546:A211V	A	+	2	0	MEPCE	99866209	1.000000	0.71417	0.982000	0.44146	0.328000	0.28507	5.031000	0.64134	2.530000	0.85305	0.561000	0.74099	GCG		0.552	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			42	100	0	0	0	1	0	42	100				
HLTF	6596	broad.mit.edu	37	3	148789435	148789435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148789435C>A	ENST00000310053.5	-	6	830	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	HLTF_ENST00000392912.2_Nonsense_Mutation_p.E213*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.E213*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	213				KTE -> PEF (in Ref. 6; AAB27691). {ECO:0000305}.	chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E213K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGTCAAATTCTGTTTTAAGC	0.259																																						ENST00000310053.5																			1	Substitution - Missense(1)	p.E213K(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(637-639)Gaa>Taa		helicase-like transcription factor							54.0	53.0	53.0					3																	148789435		2196	4294	6490	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148789435C>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.637G>T	3.37:g.148789435C>A	ENSP00000308944:p.Glu213*					HLTF_ENST00000494055.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E213*	p.E213*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	830	-			213	KTE -> PEF (in Ref. 6; AAB27691).				D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.637G>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	39	7.309615	0.98203	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.1684	17.2515	0.87043	0.0:1.0:0.0:0.0	.	.	.	.	X	213;213;213;213;210;210	.	ENSP00000308944:E213X	E	-	1	0	HLTF	150272125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.504000	0.73704	2.431000	0.82371	0.655000	0.94253	GAA		0.259	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			8	6	1	0	2.17888e-05	1	2.45068e-05	8	6				
FBXO31	79791	broad.mit.edu	37	16	87367807	87367807	+	Missense_Mutation	SNP	C	C	T	rs187880966	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87367807C>T	ENST00000311635.7	-	8	1094	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A25T	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	361					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.R361H(2)|p.R189H(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATTGAAGTTGCGCTGGTTCTC	0.682													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17869	0.0		0.0	False		,,,				2504	0.0					ENST00000311635.7																			4	Substitution - Missense(4)	p.R361H(2)|p.R189H(2)	prostate(2)|endometrium(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1081-1083)cGc>cAc		F-box protein 31							56.0	55.0	55.0					16																	87367807		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87367807C>T	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1082G>A	16.37:g.87367807C>T	ENSP00000310841:p.Arg361His					RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A25T	p.R361H	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	8	1094	-			361					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1082G>A	CCDS32501.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	11.60	1.687097	0.29962	.	.	ENSG00000103264	ENST00000311635	T	0.69806	-0.43	5.06	3.11	0.35812	.	0.156133	0.64402	N	0.000017	T	0.53642	0.1809	M	0.64997	1.995	0.42463	D	0.992799	B;B	0.14438	0.006;0.01	B;B	0.14023	0.005;0.01	T	0.55933	-0.8062	10	0.45353	T	0.12	-17.9556	11.3033	0.49320	0.0:0.8508:0.0:0.1492	.	361;253	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	H	361	ENSP00000310841:R361H	ENSP00000310841:R361H	R	-	2	0	FBXO31	85925308	0.593000	0.26840	0.310000	0.25168	0.051000	0.14879	1.434000	0.34958	0.543000	0.28864	0.561000	0.74099	CGC		0.682	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		40	40	0	0	0	1	0	40	40				
GPATCH4	54865	broad.mit.edu	37	1	156565259	156565259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156565259G>T	ENST00000438976.2	-	8	904	c.874C>A	c.(874-876)Ctc>Atc	p.L292I	GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_Missense_Mutation_p.L287I			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	287							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTTCCTGAGGGACTGATTG	0.507																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(859-861)Ctc>Atc		G patch domain containing 4							247.0	245.0	246.0					1																	156565259		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565259G>T	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.874C>A	1.37:g.156565259G>T	ENSP00000396441:p.Leu292Ile					GPATCH4_ENST00000438976.2_Missense_Mutation_p.L292I	p.L287I	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	991	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		287					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.859C>A	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	G	7.591	0.670863	0.14776	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	T;T;T	0.44083	0.93;0.93;0.93	4.14	-4.99	0.03010	.	3.259400	0.01120	N	0.005763	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.07328	-1.0778	10	0.05525	T	0.97	-18.2661	6.2758	0.20979	0.5939:0.0:0.2746:0.1315	.	292;287	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	I	287;287;292;258	ENSP00000357215:L287I;ENSP00000396441:L292I;ENSP00000412620:L258I	ENSP00000357212:L287I	L	-	1	0	GPATCH4	154831883	0.040000	0.19996	0.000000	0.03702	0.106000	0.19336	-0.017000	0.12590	-1.094000	0.03054	0.563000	0.77884	CTC		0.507	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		7	269	1	0	5.4927e-09	1	6.6252e-09	7	269				
DHX40	79665	broad.mit.edu	37	17	57682891	57682891	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57682891C>T	ENST00000251241.4	+	17	2203	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	DHX40_ENST00000451169.2_Missense_Mutation_p.P638S|DHX40_ENST00000425628.3_Missense_Mutation_p.P609S	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	686							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATTGTATGCCCAATCCGTTA	0.403																																						ENST00000451169.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(1912-1914)Cca>Tca		DEAH (Asp-Glu-Ala-His) box polypeptide 40							122.0	109.0	113.0					17																	57682891		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57682891C>T	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.2056C>T	17.37:g.57682891C>T	ENSP00000251241:p.Pro686Ser					DHX40_ENST00000425628.3_Missense_Mutation_p.P609S|DHX40_ENST00000251241.4_Missense_Mutation_p.P686S	p.P638S			Q8IX18	DHX40_HUMAN			20	2271	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		686					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.1912C>T	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806145	0.70682	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.03663	4.22;3.85	5.92	5.92	0.95590	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.91635	0.999;0.894	T	0.26916	-1.0089	10	0.17832	T	0.49	.	19.3225	0.94248	0.0:1.0:0.0:0.0	.	609;686	F5H625;Q8IX18	.;DHX40_HUMAN	S	686;609;686;638	ENSP00000251241:P686S;ENSP00000396039:P638S	ENSP00000251241:P686S	P	+	1	0	DHX40	55037673	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.271000	0.78506	2.822000	0.97130	0.650000	0.86243	CCA		0.403	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		21	29	0	0	0	1	0	21	29				
C3AR1	719	broad.mit.edu	37	12	8211725	8211725	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8211725T>C	ENST00000307637.4	-	2	1260	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	353					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAACAGGCTATCATGATAACA	0.517																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1057-1059)Ata>Gta		complement component 3a receptor 1							116.0	104.0	108.0					12																	8211725		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211725T>C	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1057A>G	12.37:g.8211725T>C	ENSP00000302079:p.Ile353Val						p.I353V	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1260	-			353					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.1057A>G	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.881618	0.00532	.	.	ENSG00000171860	ENST00000307637	T	0.71222	-0.55	5.79	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.585786	0.13808	N	0.361321	T	0.37404	0.1002	N	0.02685	-0.53	0.22199	N	0.9993	B	0.02656	0.0	B	0.04013	0.001	T	0.33111	-0.9881	10	0.02654	T	1	.	5.5951	0.17323	0.0:0.6181:0.1422:0.2397	.	353	Q16581	C3AR_HUMAN	V	353	ENSP00000302079:I353V	ENSP00000302079:I353V	I	-	1	0	C3AR1	8102992	0.001000	0.12720	0.924000	0.36721	0.016000	0.09150	-0.506000	0.06359	0.349000	0.23975	-0.177000	0.13119	ATA		0.517	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			3	44	0	0	0	1	0	3	44				
RGPD3	653489	broad.mit.edu	37	2	107073497	107073497	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107073497C>T	ENST00000409886.3	-	4	422	c.335G>A	c.(334-336)gGa>gAa	p.G112E	RGPD3_ENST00000304514.7_Missense_Mutation_p.G112E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	112					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGCTCTTCCATCAGTAAC	0.348																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(334-336)gGa>gAa		RANBP2-like and GRIP domain containing 3							175.0	147.0	155.0					2																	107073497		692	1591	2283	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107073497C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.335G>A	2.37:g.107073497C>T	ENSP00000386588:p.Gly112Glu					RGPD3_ENST00000304514.7_Missense_Mutation_p.G112E	p.G112E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			4	422	-			112					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.335G>A	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	2.386	-0.340910	0.05243	.	.	ENSG00000153165	ENST00000409886;ENST00000304514;ENST00000440524	T;T	0.32515	1.45;1.45	2.57	2.57	0.30868	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.28995	0.0720	L	0.38531	1.155	0.28805	N	0.898589	P	0.45531	0.86	P	0.45660	0.489	T	0.09885	-1.0654	9	0.46703	T	0.11	-25.9233	10.9	0.47045	0.0:1.0:0.0:0.0	.	112	A6NKT7	RGPD3_HUMAN	E	112;112;55	ENSP00000386588:G112E;ENSP00000303659:G112E	ENSP00000303659:G112E	G	-	2	0	RGPD3	106439929	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	5.047000	0.64232	1.430000	0.47334	0.164000	0.16699	GGA		0.348	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		81	160	0	0	0	1	0	81	160				
SEMA6D	80031	broad.mit.edu	37	15	48063276	48063276	+	Missense_Mutation	SNP	C	C	T	rs201591556	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48063276C>T	ENST00000316364.5	+	19	2955	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	SEMA6D_ENST00000354744.4_Missense_Mutation_p.T783M|SEMA6D_ENST00000389432.2_Missense_Mutation_p.T796M|SEMA6D_ENST00000536845.2_Missense_Mutation_p.T839M|SEMA6D_ENST00000389428.3_Missense_Mutation_p.T764M|SEMA6D_ENST00000558014.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000389433.2_Missense_Mutation_p.T820M|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.T777M|SEMA6D_ENST00000537942.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	839					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GACTACAACACGTCTTTCTCA	0.458													C|||	4	0.000798722	0.0	0.0	5008	,	,		22082	0.001		0.0	False		,,,				2504	0.0031					ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2515-2517)aCg>aTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							106.0	98.0	101.0					15																	48063276		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063276C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2516C>T	15.37:g.48063276C>T	ENSP00000324857:p.Thr839Met					SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.T764M|SEMA6D_ENST00000354744.4_Missense_Mutation_p.T783M|SEMA6D_ENST00000389432.2_Missense_Mutation_p.T796M|SEMA6D_ENST00000358066.4_Missense_Mutation_p.T777M|SEMA6D_ENST00000389433.2_Missense_Mutation_p.T820M|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000537942.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000536845.2_Missense_Mutation_p.T839M	p.T839M	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2955	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	839					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2516C>T	CCDS32225.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.55	1.670701	0.29693	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.17370	2.28;2.29;2.29;2.28;2.28;2.28;2.28;2.28	5.58	5.58	0.84498	.	0.607200	0.15959	N	0.236344	T	0.12433	0.0302	N	0.22421	0.69	0.80722	D	1	P;P;B;P	0.39352	0.669;0.669;0.135;0.669	B;B;B;B	0.33339	0.162;0.114;0.028;0.079	T	0.06770	-1.0808	10	0.59425	D	0.04	.	13.8205	0.63318	0.0:0.9266:0.0:0.0734	.	764;783;839;777	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	M	777;839;839;820;796;783;777;764	ENSP00000442040:T777M;ENSP00000446152:T839M;ENSP00000324857:T839M;ENSP00000374084:T820M;ENSP00000374083:T796M;ENSP00000346786:T783M;ENSP00000350770:T777M;ENSP00000374079:T764M	ENSP00000324857:T839M	T	+	2	0	SEMA6D	45850568	0.960000	0.32886	0.975000	0.42487	0.993000	0.82548	2.135000	0.42112	2.613000	0.88420	0.563000	0.77884	ACG		0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		7	69	0	0	0	1	0	7	69				
HLA-B	3106	broad.mit.edu	37	6	31323155	31323155	+	Silent	SNP	C	C	T	rs1065502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31323155C>T	ENST00000412585.2	-	4	862	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	278	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGTATCTCTGCTCTTCTCCAG	0.567									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(832-834)gaG>gaA		major histocompatibility complex, class I, B							85.0	72.0	77.0					6																	31323155		2203	4300	6503	SO:0001819	synonymous_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323155C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.834G>A	6.37:g.31323155C>T							p.E278E	NM_005514.6	NP_005505.2					4	862	-								Q29764	Silent	SNP	ENST00000412585.2	37	c.834G>A	CCDS34394.1																																																																																				0.567	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		7	45	0	0	0	1	0	7	45				
SEMA3G	56920	broad.mit.edu	37	3	52476300	52476300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52476300C>T	ENST00000231721.2	-	4	359	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	120	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTAGCACCCGCACGAAGTTGG	0.667																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(358-360)gtG>gtA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							57.0	56.0	56.0					3																	52476300		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52476300C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.360G>A	3.37:g.52476300C>T							p.V120V	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	4	359	-			120			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.360G>A	CCDS2856.1																																																																																				0.667	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		4	51	0	0	0	1	0	4	51				
ASNSD1	54529	broad.mit.edu	37	2	190530910	190530910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190530910G>A	ENST00000260952.4	+	4	465	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	18	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTCAGTCAAGATTTAAAAGA	0.338																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(52-54)Gat>Aat		asparagine synthetase domain containing 1							101.0	100.0	101.0					2																	190530910		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190530910G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.52G>A	2.37:g.190530910G>A	ENSP00000260952:p.Asp18Asn					ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607535.1_3'UTR	p.D18N	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	465	+			18			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.52G>A	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	6.540	0.467808	0.12402	.	.	ENSG00000138381	ENST00000260952;ENST00000425590;ENST00000420250	T;T	0.30981	1.51;1.51	5.76	4.89	0.63831	Glutamine amidotransferase, type II (1);	0.621254	0.18393	N	0.142584	T	0.19087	0.0458	N	0.17723	0.515	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.12708	-1.0537	10	0.33940	T	0.23	-0.9709	8.6306	0.33917	0.0697:0.0:0.6705:0.2598	.	18	Q9NWL6	ASND1_HUMAN	N	18	ENSP00000260952:D18N;ENSP00000406790:D18N	ENSP00000260952:D18N	D	+	1	0	ASNSD1	190239155	0.004000	0.15560	0.401000	0.26359	0.079000	0.17450	1.345000	0.33953	1.579000	0.49836	0.650000	0.86243	GAT		0.338	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		31	58	0	0	0	1	0	31	58				
RPS6KA2	6196	broad.mit.edu	37	6	167271707	167271707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167271707G>A	ENST00000507747.1	-	8	474	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T35I|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T35I																							AGTGTCTTCTGTGGTGGGCTC	0.458																																						ENST00000507747.1																			0											c.(475-477)Cag>Tag									256.0	202.0	221.0					6																	167271707		2203	4300	6503	SO:0001587	stop_gained	0							g.chr6:167271707G>A																												ENST00000507747.1:c.475C>T	6.37:g.167271707G>A	ENSP00000426906:p.Gln159*					RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T35I|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T35I	p.Q159*							8	474	-									Nonsense_Mutation	SNP	ENST00000507747.1	37	c.475C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.192|6.192	0.403573|0.403573	0.11754|0.11754	.|.	.|.	ENSG00000249141|ENSG00000071242	ENST00000507747|ENST00000510118;ENST00000503859;ENST00000506565	.|T;T;T	.|0.70045	.|-0.42;-0.45;-0.31	4.62|4.62	0.862|0.862	0.19056|0.19056	.|.	.|3.181170	.|0.02281	.|U	.|0.069398	.|T	.|0.24431	.|0.0592	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B	.|0.23806	.|0.091;0.0	.|B;B	.|0.14023	.|0.01;0.0	.|T	.|0.11518	.|-1.0584	.|10	.|0.44086	.|T	.|0.13	.|.	7.6447|7.6447	0.28312|0.28312	0.2914:0.0:0.7086:0.0|0.2914:0.0:0.7086:0.0	.|.	.|35;35	.|F2Z2J1;Q15349-3	.|.;.	X|I	159|35	.|ENSP00000422435:T35I;ENSP00000427015:T35I;ENSP00000425148:T35I	.|ENSP00000427015:T35I	Q|T	-|-	1|2	0|0	RP11-514O12.4|RPS6KA2	167191697|167191697	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.271000|-0.271000	0.08572|0.08572	-0.031000|-0.031000	0.13781|0.13781	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.458	RP11-514O12.4-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000362905.1			11	85	0	0	0	1	0	11	85				
PTGER4	5734	broad.mit.edu	37	5	40681118	40681118	+	Missense_Mutation	SNP	C	C	T	rs371545658		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681118C>T	ENST00000302472.3	+	2	1047	c.23C>T	c.(22-24)tCg>tTg	p.S8L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	8					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GGGGTCAATTCGTCCGCCTCC	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(22-24)tCg>tTg		prostaglandin E receptor 4 (subtype EP4)		C	LEU/SER	0,4406		0,0,2203	58.0	60.0	59.0		23	4.4	0.1	5		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTGER4	NM_000958.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	8/489	40681118	1,13005	2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681118C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.23C>T	5.37:g.40681118C>T	ENSP00000302846:p.Ser8Leu		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895	PTGER4_ENST00000514343.1_3'UTR	p.S8L	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1047	+			8					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.23C>T	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717279	0.30413	0.0	1.16E-4	ENSG00000171522	ENST00000302472	T	0.53423	0.62	5.24	4.36	0.52297	.	0.320352	0.26582	N	0.023562	T	0.29256	0.0728	N	0.19112	0.55	0.09310	N	1	B	0.20261	0.043	B	0.09377	0.004	T	0.07908	-1.0748	10	0.36615	T	0.2	-8.582	8.2676	0.31824	0.0:0.7105:0.2014:0.0881	.	8	P35408	PE2R4_HUMAN	L	8	ENSP00000302846:S8L	ENSP00000302846:S8L	S	+	2	0	PTGER4	40716875	0.000000	0.05858	0.106000	0.21319	0.486000	0.33341	0.380000	0.20602	2.457000	0.83068	0.462000	0.41574	TCG		0.627	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		6	55	0	0	0	1	0	6	55				
SH3TC1	54436	broad.mit.edu	37	4	8229811	8229811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8229811G>A	ENST00000245105.3	+	12	2457	c.2390G>A	c.(2389-2391)aGc>aAc	p.S797N	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S721N	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	797										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTGTACAGCCACCATGGC	0.672																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2161-2163)aGc>aAc		SH3 domain and tetratricopeptide repeats 1							32.0	30.0	31.0					4																	8229811		2201	4299	6500	SO:0001583	missense	54436						binding	g.chr4:8229811G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2390G>A	4.37:g.8229811G>A	ENSP00000245105:p.Ser797Asn					SH3TC1_ENST00000245105.3_Missense_Mutation_p.S797N	p.S721N			Q8TE82	S3TC1_HUMAN			12	2536	+			797					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2162G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763219	0.31228	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.69435	-0.4;-0.4	4.14	3.22	0.36961	Tetratricopeptide-like helical (1);	0.296739	0.37809	N	0.001938	T	0.72606	0.3481	M	0.62723	1.935	0.28800	N	0.898844	D	0.54047	0.964	P	0.57846	0.828	T	0.65763	-0.6089	10	0.27785	T	0.31	-28.5057	12.1123	0.53846	0.0:0.3231:0.6768:0.0	.	797	Q8TE82	S3TC1_HUMAN	N	535;797;721;626	ENSP00000245105:S797N;ENSP00000441045:S721N	ENSP00000245105:S797N	S	+	2	0	SH3TC1	8280711	0.992000	0.36948	0.736000	0.30914	0.072000	0.16883	2.260000	0.43267	1.825000	0.53177	0.462000	0.41574	AGC		0.672	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		7	16	0	0	0	1	0	7	16				
DDX60L	91351	broad.mit.edu	37	4	169383115	169383115	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169383115T>C	ENST00000511577.1	-	5	588	c.341A>G	c.(340-342)aAt>aGt	p.N114S	DDX60L_ENST00000505890.1_Missense_Mutation_p.N114S|DDX60L_ENST00000260184.7_Missense_Mutation_p.N114S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	114							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATGTTAGTATTGTGTTGAAG	0.373																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(340-342)aAt>aGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							79.0	77.0	78.0					4																	169383115		1858	4098	5956	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169383115T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.341A>G	4.37:g.169383115T>C	ENSP00000422423:p.Asn114Ser					DDX60L_ENST00000260184.7_Missense_Mutation_p.N114S|DDX60L_ENST00000505890.1_Missense_Mutation_p.N114S	p.N114S			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	5	588	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	114					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.341A>G		.	.	.	.	.	.	.	.	.	.	T	18.15	3.560152	0.65538	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696	T;T;T	0.19806	2.12;2.12;2.12	3.25	2.03	0.26663	.	0.000000	0.40385	U	0.001104	T	0.38639	0.1048	M	0.69358	2.11	0.20873	N	0.999835	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09997	-1.0649	10	0.62326	D	0.03	.	7.496	0.27490	0.0:0.1163:0.0:0.8837	.	114;114	D6R906;Q5H9U9	.;DDX6L_HUMAN	S	114	ENSP00000260184:N114S;ENSP00000422423:N114S;ENSP00000422202:N114S	ENSP00000260184:N114S	N	-	2	0	DDX60L	169619690	1.000000	0.71417	0.002000	0.10522	0.537000	0.34900	3.361000	0.52306	0.260000	0.21731	0.260000	0.18958	AAT		0.373	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		6	17	0	0	0	1	0	6	17				
PIK3R4	30849	broad.mit.edu	37	3	130405075	130405075	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130405075T>C	ENST00000356763.3	-	15	4012	c.3455A>G	c.(3454-3456)cAc>cGc	p.H1152R	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1152					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCAGCATTGGTGGATGTCCAC	0.458																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(3454-3456)cAc>cGc		phosphoinositide-3-kinase, regulatory subunit 4							98.0	92.0	94.0					3																	130405075		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130405075T>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3455A>G	3.37:g.130405075T>C	ENSP00000349205:p.His1152Arg					PIK3R4_ENST00000512677.1_5'UTR	p.H1152R	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			15	4012	-			1152					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.3455A>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399237	0.42512	.	.	ENSG00000196455	ENST00000356763	T	0.01287	5.05	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.091579	0.85682	D	0.000000	T	0.01189	0.0039	N	0.12569	0.235	0.58432	D	0.999999	B	0.23185	0.081	B	0.15484	0.013	T	0.65166	-0.6234	10	0.14656	T	0.56	-21.9218	15.6423	0.77016	0.0:0.0:0.0:1.0	.	1152	Q99570	PI3R4_HUMAN	R	1152	ENSP00000349205:H1152R	ENSP00000349205:H1152R	H	-	2	0	PIK3R4	131887765	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.006000	0.70724	2.166000	0.68216	0.454000	0.30748	CAC		0.458	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		20	28	0	0	0	1	0	20	28				
ANKS6	203286	broad.mit.edu	37	9	101552558	101552558	+	Missense_Mutation	SNP	C	C	T	rs201704559		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101552558C>T	ENST00000353234.4	-	2	737	c.690G>A	c.(688-690)atG>atA	p.M230I	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.M230I|ANKS6_ENST00000540940.1_Missense_Mutation_p.M35I			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	230						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGCGGCCAGCATCAGCGGGC	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		17075	0.0		0.0	False		,,,				2504	0.001					ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(688-690)atG>atA		ankyrin repeat and sterile alpha motif domain containing 6							38.0	42.0	40.0					9																	101552558		2035	4172	6207	SO:0001583	missense	203286							g.chr9:101552558C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.690G>A	9.37:g.101552558C>T	ENSP00000297837:p.Met230Ile					ANKS6_ENST00000540940.1_Missense_Mutation_p.M35I|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.M230I|ANKS6_ENST00000375019.2_Intron	p.M230I			Q68DC2	ANKS6_HUMAN			2	737	-		Acute lymphoblastic leukemia(62;0.0527)	230					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.690G>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844104	0.71488	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.65178	0.62;0.62;-0.14	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	N	0.20530	0.585	0.80722	D	1	D	0.65815	0.995	D	0.77004	0.989	T	0.70601	-0.4827	10	0.52906	T	0.07	-29.9091	16.8355	0.85956	0.0:1.0:0.0:0.0	.	230	Q68DC2	ANKS6_HUMAN	I	230;230;35	ENSP00000364158:M230I;ENSP00000297837:M230I;ENSP00000442189:M35I	ENSP00000297837:M230I	M	-	3	0	ANKS6	100592379	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	7.570000	0.82390	2.571000	0.86741	0.561000	0.74099	ATG		0.697	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		16	25	0	0	0	1	0	16	25				
ADAM33	80332	broad.mit.edu	37	20	3654742	3654742	+	Missense_Mutation	SNP	C	C	T	rs376187665		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3654742C>T	ENST00000356518.2	-	8	948	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ADAM33_ENST00000379861.4_Missense_Mutation_p.R236H|ADAM33_ENST00000350009.2_Missense_Mutation_p.R236H|ADAM33_ENST00000466620.1_5'Flank	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	236	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTCCAGGAGACGCTGTTTGGT	0.652																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(706-708)cGt>cAt		ADAM metallopeptidase domain 33		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	99.0	102.0	101.0		707,707	5.1	1.0	20		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADAM33	NM_025220.2,NM_153202.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	236/814,236/788	3654742	1,13005	2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3654742C>T	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.707G>A	20.37:g.3654742C>T	ENSP00000348912:p.Arg236His					ADAM33_ENST00000379861.4_Missense_Mutation_p.R236H|ADAM33_ENST00000350009.2_Missense_Mutation_p.R236H	p.R236H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			8	948	-			236			Peptidase M12B.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.707G>A	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178721	0.94846	0.0	1.16E-4	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000439201;ENST00000322570	T;T;T	0.18174	2.23;2.23;2.23	5.09	5.09	0.68999	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.36717	0.0977	M	0.66506	2.035	0.58432	D	0.999999	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	0.91635	0.999;0.998;0.997;0.997;0.998;0.998	T	0.02093	-1.1215	9	0.37606	T	0.19	.	10.7672	0.46301	0.0:0.913:0.0:0.087	.	236;248;159;236;236;236	B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;ADA33_HUMAN;.	H	236;236;236;159;236;159	ENSP00000348912:R236H;ENSP00000369190:R236H;ENSP00000322550:R236H	ENSP00000318839:R159H	R	-	2	0	ADAM33	3602742	0.970000	0.33590	0.994000	0.49952	0.994000	0.84299	3.053000	0.49901	2.651000	0.90000	0.563000	0.77884	CGT		0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		8	71	0	0	0	1	0	8	71				
ANKRD29	147463	broad.mit.edu	37	18	21209871	21209871	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21209871C>A	ENST00000592179.1	-	6	628	c.474G>T	c.(472-474)ttG>ttT	p.L158F	ANKRD29_ENST00000284207.7_Missense_Mutation_p.L158F|ANKRD29_ENST00000322980.9_Missense_Mutation_p.L158F	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	158										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAATAACATCCAAGTAACCAC	0.453																																						ENST00000592179.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13						c.(472-474)ttG>ttT		ankyrin repeat domain 29							88.0	73.0	78.0					18																	21209871		2203	4300	6503	SO:0001583	missense	147463							g.chr18:21209871C>A	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.474G>T	18.37:g.21209871C>A	ENSP00000468354:p.Leu158Phe					ANKRD29_ENST00000284207.7_Missense_Mutation_p.L158F|ANKRD29_ENST00000322980.9_Missense_Mutation_p.L158F	p.L158F	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN			6	628	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)		158					B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	ENST00000592179.1	37	c.474G>T	CCDS11879.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959681	0.53400	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	T;T	0.68479	-0.33;-0.33	5.29	4.41	0.53225	Ankyrin repeat-containing domain (4);	0.248770	0.34291	N	0.004094	T	0.60599	0.2281	L	0.48986	1.54	0.41626	D	0.988991	P;P	0.38440	0.631;0.627	B;B	0.40375	0.295;0.327	T	0.65030	-0.6267	10	0.62326	D	0.03	.	8.744	0.34575	0.0:0.8319:0.0:0.1681	.	158;158	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	F	158	ENSP00000323387:L158F;ENSP00000284207:L158F	ENSP00000284207:L158F	L	-	3	2	ANKRD29	19463869	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	1.933000	0.40153	2.491000	0.84063	0.650000	0.86243	TTG		0.453	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		8	19	1	0	0.000274275	1	0.000298791	8	19				
WDR36	134430	broad.mit.edu	37	5	110428061	110428061	+	Silent	SNP	C	C	T	rs200984589	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110428061C>T	ENST00000513710.2	+	1	79	c.75C>T	c.(73-75)ctC>ctT	p.L25L	WDR36_ENST00000506538.2_Silent_p.L25L|WDR36_ENST00000505303.1_5'UTR|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	25			L -> P (possible disease-susceptibility mutation; dbSNP:rs145437203). {ECO:0000269|PubMed:15677485}.		regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTCTGCAGCTCTGGCAGAGGA	0.587													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19208	0.0		0.0	False		,,,				2504	0.0					ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(73-75)ctC>ctT		WD repeat domain 36							70.0	78.0	75.0					5																	110428061		2202	4300	6502	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110428061C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.75C>T	5.37:g.110428061C>T						WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000513710.2_Silent_p.L25L	p.L25L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	1	648	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	25		L -> P (possible disease-susceptibility mutation).			A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.75C>T	CCDS4102.1																																																																																				0.587	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		34	58	0	0	0	1	0	34	58				
ABCC10	89845	broad.mit.edu	37	6	43416862	43416862	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43416862C>A	ENST00000372530.4	+	20	4338	c.4123C>A	c.(4123-4125)Ctg>Atg	p.L1375M	ABCC10_ENST00000244533.3_Missense_Mutation_p.L1347M	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1375	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGATGGTGAGCTGGGTGAGGG	0.587																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(4039-4041)Ctg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							102.0	100.0	101.0					6																	43416862		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43416862C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4123C>A	6.37:g.43416862C>A	ENSP00000361608:p.Leu1375Met					ABCC10_ENST00000372530.4_Missense_Mutation_p.L1375M	p.L1347M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		18	4398	+	all_lung(25;0.00536)		1375			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.4039C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166985	0.78339	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.91631	-2.88;-2.88	5.46	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.089001	0.47852	D	0.000216	D	0.93154	0.7820	M	0.78637	2.42	0.46222	D	0.99893	P;P	0.47841	0.609;0.901	B;P	0.55455	0.287;0.776	D	0.92778	0.6238	10	0.45353	T	0.12	.	14.5079	0.67764	0.0:0.7207:0.2793:0.0	.	1347;1375	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	M	1375;1347;131	ENSP00000361608:L1375M;ENSP00000244533:L1347M	ENSP00000244533:L1347M	L	+	1	2	ABCC10	43524840	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.913000	0.48790	1.286000	0.44565	0.585000	0.79938	CTG		0.587	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	68	1	0	1.58986e-06	1	1.84011e-06	8	68				
ANKRD13B	124930	broad.mit.edu	37	17	27939446	27939446	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27939446G>A	ENST00000394859.3	+	12	1439	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	429						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CATCCTCAACGCCCGCATCAC	0.637																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1285-1287)Gcc>Acc		ankyrin repeat domain 13B							41.0	42.0	41.0					17																	27939446		2203	4300	6503	SO:0001583	missense	124930							g.chr17:27939446G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1285G>A	17.37:g.27939446G>A	ENSP00000378328:p.Ala429Thr					RP11-68I3.2_ENST00000581474.1_RNA	p.A429T	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			12	1439	+			429					Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.1285G>A	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173873	0.94807	.	.	ENSG00000198720	ENST00000394859	T	0.55052	0.54	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.80597	0.4653	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85948	0.1462	10	0.87932	D	0	-27.7135	18.5264	0.90974	0.0:0.0:1.0:0.0	.	429	Q86YJ7	AN13B_HUMAN	T	429	ENSP00000378328:A429T	ENSP00000378328:A429T	A	+	1	0	ANKRD13B	24963572	1.000000	0.71417	0.997000	0.53966	0.431000	0.31685	7.877000	0.87225	2.482000	0.83794	0.462000	0.41574	GCC		0.637	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		4	8	0	0	0	1	0	4	8				
NCF2	4688	broad.mit.edu	37	1	183536117	183536117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183536117G>A	ENST00000367535.3	-	9	1113	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	NCF2_ENST00000413720.1_Missense_Mutation_p.L243F|NCF2_ENST00000469280.1_5'Flank|NCF2_ENST00000367536.1_Missense_Mutation_p.L288F|NCF2_ENST00000418089.1_Missense_Mutation_p.L207F	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	288	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CAGGGAACAAGCCCCTTCTGC	0.537																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(727-729)Ctt>Ttt		neutrophil cytosolic factor 2							91.0	80.0	84.0					1																	183536117		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183536117G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.862C>T	1.37:g.183536117G>A	ENSP00000356505:p.Leu288Phe					NCF2_ENST00000367535.3_Missense_Mutation_p.L288F|NCF2_ENST00000367536.1_Missense_Mutation_p.L288F|NCF2_ENST00000418089.1_Missense_Mutation_p.L207F	p.L243F	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			8	1001	-			288			SH3 1.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.727C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737666	0.69304	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;1.47	4.98	2.88	0.33553	Src homology-3 domain (4);	0.122602	0.56097	D	0.000029	T	0.62233	0.2411	L	0.52266	1.64	0.42390	D	0.992524	D;D;D	0.71674	0.993;0.998;0.997	D;D;D	0.76575	0.919;0.974;0.988	T	0.59532	-0.7437	10	0.33940	T	0.23	-16.0238	11.4471	0.50129	0.0:0.0:0.6871:0.3129	.	207;243;288	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	F	288;360;243;207;288;27	ENSP00000356506:L288F;ENSP00000399294:L243F;ENSP00000407217:L207F;ENSP00000356505:L288F;ENSP00000406198:L27F	ENSP00000356505:L288F	L	-	1	0	NCF2	181802740	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.551000	0.53698	2.320000	0.78422	0.655000	0.94253	CTT		0.537	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		4	44	0	0	0	1	0	4	44				
FAT2	2196	broad.mit.edu	37	5	150917383	150917383	+	Missense_Mutation	SNP	G	G	A	rs200557129	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150917383G>A	ENST00000261800.5	-	11	9176	c.9164C>T	c.(9163-9165)gCg>gTg	p.A3055V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCATGCGCCCCAGGGCC	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		20527	0.0		0.0	False		,,,				2504	0.002					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9163-9165)gCg>gTg		FAT atypical cadherin 2							122.0	114.0	117.0					5																	150917383		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150917383G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9164C>T	5.37:g.150917383G>A	ENSP00000261800:p.Ala3055Val						p.A3055V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	9176	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3055			Cadherin 27.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9164C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501038	0.85176	.	.	ENSG00000086570	ENST00000261800	T	0.53640	0.61	4.69	3.82	0.43975	Cadherin (4);Cadherin-like (1);	0.115071	0.38605	N	0.001634	T	0.59972	0.2233	L	0.57536	1.79	0.53688	D	0.999976	D	0.76494	0.999	D	0.66084	0.941	T	0.56414	-0.7983	10	0.29301	T	0.29	.	12.6146	0.56569	0.0805:0.0:0.9195:0.0	.	3055	Q9NYQ8	FAT2_HUMAN	V	3055	ENSP00000261800:A3055V	ENSP00000261800:A3055V	A	-	2	0	FAT2	150897576	1.000000	0.71417	0.463000	0.27130	0.956000	0.61745	6.144000	0.71762	0.983000	0.38602	0.563000	0.77884	GCG		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	35	0	0	0	1	0	27	35				
KNOP1	400506	broad.mit.edu	37	16	19725641	19725641	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19725641A>G	ENST00000219837.7	-	2	795	c.717T>C	c.(715-717)ccT>ccC	p.P239P	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank|IQCK_ENST00000320394.6_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	239	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TTCCTTTCCTAGGGCTGCTCT	0.498																																						ENST00000219837.7																			0											c.(715-717)ccT>ccC		lysine-rich nucleolar protein 1							55.0	62.0	60.0					16																	19725641		2184	4295	6479	SO:0001819	synonymous_variant	400506							g.chr16:19725641A>G	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.717T>C	16.37:g.19725641A>G						AC002550.5_ENST00000565916.1_RNA	p.P239P	NM_001012991.2	NP_001013009.2					2	795	-								O43328|Q5FWF3	Silent	SNP	ENST00000219837.7	37	c.717T>C	CCDS42127.1																																																																																				0.498	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		5	65	0	0	0	1	0	5	65				
STK38	11329	broad.mit.edu	37	6	36464531	36464531	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36464531T>C	ENST00000229812.7	-	13	1509	c.1224A>G	c.(1222-1224)tcA>tcG	p.S408S		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCGAAGTTTGAGGTATCAT	0.378																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1222-1224)tcA>tcG		serine/threonine kinase 38							168.0	146.0	153.0					6																	36464531		2203	4300	6503	SO:0001819	synonymous_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36464531T>C		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1224A>G	6.37:g.36464531T>C							p.S408S	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			13	1509	-			408			AGC-kinase C-terminal.			Silent	SNP	ENST00000229812.7	37	c.1224A>G	CCDS4822.1																																																																																				0.378	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		3	46	0	0	0	1	0	3	46				
WNT2B	7482	broad.mit.edu	37	1	113063007	113063007	+	Missense_Mutation	SNP	G	G	A	rs144189370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113063007G>A	ENST00000369684.4	+	5	1537	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	WNT2B_ENST00000369686.5_Missense_Mutation_p.R332H|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000256640.5_Missense_Mutation_p.R259H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	351					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTCACCCGTGTTACCCAG	0.527																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(1051-1053)cGt>cAt		wingless-type MMTV integration site family, member 2B		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	196.0	154.0	168.0		995,1052	4.9	1.0	1	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WNT2B	NM_004185.3,NM_024494.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	332/373,351/392	113063007	1,13005	2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113063007G>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.1052G>A	1.37:g.113063007G>A	ENSP00000358698:p.Arg351His					WNT2B_ENST00000256640.5_Missense_Mutation_p.R259H|WNT2B_ENST00000369686.4_Missense_Mutation_p.R332H	p.R351H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1537	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	351					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.1052G>A	CCDS847.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.7	4.660087	0.88154	0.0	1.16E-4	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.76448	-1.02;-1.02;-1.02	4.92	4.92	0.64577	.	0.113256	0.64402	D	0.000008	D	0.83285	0.5221	M	0.69185	2.1	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.65140	0.932;0.923	T	0.82339	-0.0506	10	0.41790	T	0.15	.	17.914	0.88943	0.0:0.0:1.0:0.0	.	351;332	Q93097;Q93097-2	WNT2B_HUMAN;.	H	259;332;351	ENSP00000256640:R259H;ENSP00000358700:R332H;ENSP00000358698:R351H	ENSP00000256640:R259H	R	+	2	0	WNT2B	112864530	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.721000	0.84768	2.540000	0.85666	0.655000	0.94253	CGT		0.527	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		7	29	0	0	0	1	0	7	29				
EFHC1	114327	broad.mit.edu	37	6	52334250	52334250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52334250G>A	ENST00000371068.5	+	7	1360	c.1257G>A	c.(1255-1257)gtG>gtA	p.V419V	EFHC1_ENST00000433625.2_Silent_p.V328V|EFHC1_ENST00000538167.1_Silent_p.V400V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	419	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATAACAAGGTGCTTCGTTATT	0.343																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(1255-1257)gtG>gtA		EF-hand domain (C-terminal) containing 1							118.0	119.0	118.0					6																	52334250		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52334250G>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1257G>A	6.37:g.52334250G>A						EFHC1_ENST00000538167.1_Silent_p.V400V|EFHC1_ENST00000433625.2_Silent_p.V328V	p.V419V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			7	1360	+	Lung NSC(77;0.109)		419			DM10 3.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.1257G>A	CCDS4942.1																																																																																				0.343	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		10	111	0	0	0	1	0	10	111				
MUC17	140453	broad.mit.edu	37	7	100676655	100676655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100676655C>A	ENST00000306151.4	+	3	2022	c.1958C>A	c.(1957-1959)cCt>cAt	p.P653H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	653	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACTCC	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1957-1959)cCt>cAt		mucin 17, cell surface associated							275.0	280.0	278.0					7																	100676655		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676655C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1958C>A	7.37:g.100676655C>A	ENSP00000302716:p.Pro653His						p.P653H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2022	+	Lung NSC(181;0.136)|all_lung(186;0.182)		653			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1958C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.447	-0.566180	0.03910	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.926	-0.425	0.12317	.	.	.	.	.	T	0.02494	0.0076	L	0.27053	0.805	0.09310	N	1	P	0.47034	0.889	B	0.40285	0.325	T	0.47724	-0.9095	9	0.19590	T	0.45	.	5.7264	0.18015	0.3132:0.6867:0.0:0.0	.	653	Q685J3	MUC17_HUMAN	H	653	ENSP00000302716:P653H	ENSP00000302716:P653H	P	+	2	0	MUC17	100463375	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.045000	0.30341	-0.093000	0.12396	0.395000	0.25975	CCT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		29	377	1	0	3.73148e-12	1	4.68205e-12	29	377				
ARF1	375	broad.mit.edu	37	1	228284846	228284846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228284846G>A	ENST00000541182.1	+	2	293	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.G11S|ARF1_ENST00000272102.5_Missense_Mutation_p.G11S|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTCTTCAAGGGCCTTTTTGG	0.542																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(31-33)Ggc>Agc		ADP-ribosylation factor 1							122.0	101.0	108.0					1																	228284846		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228284846G>A	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.31G>A	1.37:g.228284846G>A	ENSP00000440005:p.Gly11Ser					ARF1_ENST00000540651.1_Missense_Mutation_p.G11S|ARF1_ENST00000272102.5_Missense_Mutation_p.G11S|ARF1_ENST00000478424.1_3'UTR	p.G11S	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			2	293	+		Prostate(94;0.0405)	11					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.31G>A	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713112	0.68730	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.61510	0.1;0.1;0.1	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000011	T	0.38081	0.1027	N	0.03294	-0.36	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.001	T	0.18272	-1.0342	10	0.24483	T	0.36	-19.848	19.7069	0.96076	0.0:0.0:1.0:0.0	.	11;11	B4DJC8;P84077	.;ARF1_HUMAN	S	11	ENSP00000272102:G11S;ENSP00000442980:G11S;ENSP00000440005:G11S	ENSP00000272102:G11S	G	+	1	0	ARF1	226351469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.187000	0.50950	2.894000	0.99253	0.591000	0.81541	GGC		0.542	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		33	65	0	0	0	1	0	33	65				
TTLL3	26140	broad.mit.edu	37	3	9870917	9870917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9870917G>A	ENST00000547186.1	+	10	1608	c.1392G>A	c.(1390-1392)caG>caA	p.Q464Q	TTLL3_ENST00000426895.4_Silent_p.Q607Q|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000397241.1_Silent_p.Q252Q|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Q525Q|TTLL3_ENST00000430793.1_Silent_p.Q252Q|TTLL3_ENST00000427853.3_Silent_p.Q252Q|TTLL3_ENST00000383827.1_Silent_p.Q252Q|TTLL3_ENST00000455274.1_Silent_p.Q252Q	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	464	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGGACTTCCAGCCCTGGCTGA	0.627																																						ENST00000383827.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(754-756)caG>caA		tubulin tyrosine ligase-like family, member 3							87.0	74.0	78.0					3																	9870917		2203	4300	6503	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9870917G>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1392G>A	3.37:g.9870917G>A						TTLL3_ENST00000426895.4_Silent_p.Q607Q|TTLL3_ENST00000430793.1_Silent_p.Q252Q|TTLL3_ENST00000427853.3_Silent_p.Q252Q|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Q525Q|TTLL3_ENST00000547186.1_Silent_p.Q464Q|TTLL3_ENST00000455274.1_Silent_p.Q252Q|TTLL3_ENST00000397241.1_Silent_p.Q252Q|TTLL3_ENST00000466245.1_3'UTR	p.Q252Q			Q9Y4R7	TTLL3_HUMAN			4	3037	+	Medulloblastoma(99;0.227)		464			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.756G>A		.	.	.	.	.	.	.	.	.	.	G	8.339	0.828349	0.16749	.	.	ENSG00000214021	ENST00000310252	.	.	.	4.93	-1.63	0.08345	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	.	1.1957	0.01874	0.2146:0.2094:0.3695:0.2064	.	.	.	.	T	420	.	.	A	+	1	0	TTLL3	9845917	0.951000	0.32395	0.995000	0.50966	0.863000	0.49368	0.045000	0.14013	0.127000	0.18452	-0.253000	0.11424	GCC		0.627	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		31	27	0	0	0	1	0	31	27				
RGAG4	340526	broad.mit.edu	37	X	71350056	71350056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350056C>A	ENST00000545866.1	-	1	1702	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RGAG4_ENST00000609883.1_Missense_Mutation_p.E445D|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	445										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATAGGTCTCCTCAGTCCCTG	0.532																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1333-1335)gaG>gaT		retrotransposon gag domain containing 4							189.0	190.0	190.0					X																	71350056		2154	4236	6390	SO:0001583	missense	340526							g.chrX:71350056C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1335G>T	X.37:g.71350056C>A	ENSP00000441366:p.Glu445Asp					RGAG4_ENST00000479991.1_Missense_Mutation_p.E445D|NHSL2_ENST00000540800.1_Intron	p.E445D			Q5HYW3	RGAG4_HUMAN			1	1702	-	Renal(35;0.156)		445					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1335G>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753063	0.15778	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.14516	2.5;2.5	4.04	3.18	0.36537	.	.	.	.	.	T	0.07007	0.0178	N	0.24115	0.695	0.09310	N	1	P	0.41475	0.751	B	0.34093	0.175	T	0.24799	-1.0150	8	.	.	.	.	4.375	0.11267	0.221:0.6603:0.0:0.1187	.	445	Q5HYW3	RGAG4_HUMAN	D	445	ENSP00000441366:E445D;ENSP00000418667:E445D	.	E	-	3	2	RGAG4	71266781	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.008000	0.13197	1.049000	0.40321	-0.305000	0.09177	GAG		0.532	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		43	67	1	0	1.61863e-15	1	2.07799e-15	43	67				
RNASE7	84659	broad.mit.edu	37	14	21511156	21511156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21511156C>T	ENST00000298690.4	+	2	262	c.5C>T	c.(4-6)gCa>gTa	p.A2V	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	2					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGAGAGATGGCACCGGCCAGA	0.577																																						ENST00000298690.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(4-6)gCa>gTa		ribonuclease, RNase A family, 7							31.0	31.0	31.0					14																	21511156		2196	4299	6495	SO:0001583	missense	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511156C>T	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.5C>T	14.37:g.21511156C>T	ENSP00000298690:p.Ala2Val					NDRG2_ENST00000403829.3_Intron	p.A2V	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	262	+	all_cancers(95;0.000759)		2					P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	c.5C>T	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	C	6.702	0.498264	0.12762	.	.	ENSG00000165799	ENST00000298690	T	0.76316	-1.01	4.85	2.03	0.26663	.	0.659654	0.13280	U	0.399805	T	0.57021	0.2025	N	0.11255	0.115	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.46261	-0.9204	10	0.42905	T	0.14	-0.6116	6.5558	0.22460	0.0:0.6928:0.0:0.3072	.	2	Q9H1E1	RNAS7_HUMAN	V	2	ENSP00000298690:A2V	ENSP00000298690:A2V	A	+	2	0	RNASE7	20580996	0.045000	0.20229	0.024000	0.17045	0.035000	0.12851	0.241000	0.18065	0.259000	0.21709	-0.137000	0.14449	GCA		0.577	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		9	11	0	0	0	1	0	9	11				
ACSS3	79611	broad.mit.edu	37	12	81532987	81532987	+	Silent	SNP	G	G	A	rs11114776	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81532987G>A	ENST00000548058.1	+	4	1633	c.723G>A	c.(721-723)gcG>gcA	p.A241A	ACSS3_ENST00000261206.3_Silent_p.A240A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAAGAAGCGCTAAAAATAG	0.358													G|||	7	0.00139776	0.0053	0.0	5008	,	,		16473	0.0		0.0	False		,,,				2504	0.0					ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(721-723)gcG>gcA		acyl-CoA synthetase short-chain family member 3		G		27,4379	34.3+/-65.2	0,27,2176	129.0	116.0	120.0		723	-10.8	0.0	12	dbSNP_120	120	0,8600		0,0,4300	no	coding-synonymous	ACSS3	NM_024560.2		0,27,6476	AA,AG,GG		0.0,0.6128,0.2076		241/687	81532987	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81532987G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.723G>A	12.37:g.81532987G>A						ACSS3_ENST00000261206.3_Silent_p.A240A	p.A241A			Q9H6R3	ACSS3_HUMAN			4	1633	+			241					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.723G>A	CCDS9022.1																																																																																				0.358	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		23	41	0	0	0	1	0	23	41				
GOLGA2	2801	broad.mit.edu	37	9	131022831	131022831	+	Silent	SNP	G	G	A	rs144463156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131022831G>A	ENST00000421699.2	-	17	1602	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Silent_p.N518N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	530					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TAGTGCGGTCGTTCTGCATGG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15753	0.0		0.001	False		,,,				2504	0.0					ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1588-1590)aaC>aaT		golgin A2		G		0,4406		0,0,2203	96.0	105.0	102.0		1590	-4.1	0.1	9	dbSNP_134	102	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GOLGA2	NM_004486.4		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		530/1003	131022831	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131022831G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1590C>T	9.37:g.131022831G>A							p.N530N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			17	1602	-			530					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.1590C>T	CCDS6896.2																																																																																				0.667	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		68	99	0	0	0	1	0	68	99				
PKHD1	5314	broad.mit.edu	37	6	51748014	51748014	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51748014A>G	ENST00000371117.3	-	46	7502	c.7227T>C	c.(7225-7227)agT>agC	p.S2409S	PKHD1_ENST00000340994.4_Silent_p.S2409S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2409					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGATTGCTACTTCTAAAAA	0.343																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7225-7227)agT>agC		polycystic kidney and hepatic disease 1 (autosomal recessive)							53.0	54.0	53.0					6																	51748014		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51748014A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7227T>C	6.37:g.51748014A>G						PKHD1_ENST00000340994.4_Silent_p.S2409S	p.S2409S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			46	7502	-	Lung NSC(77;0.0605)		2409					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.7227T>C	CCDS4935.1																																																																																				0.343	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	59	0	0	0	1	0	6	59				
CRB1	23418	broad.mit.edu	37	1	197325986	197325986	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197325986C>T	ENST00000367400.3	+	5	1149	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	CRB1_ENST00000535699.1_Silent_p.I269I|CRB1_ENST00000367399.2_Silent_p.I226I|CRB1_ENST00000538660.1_Silent_p.I338I|CRB1_ENST00000543483.1_Silent_p.I37I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	338					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGTGAGATCGACCTCAATG	0.458																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1012-1014)atC>atT		crumbs homolog 1 (Drosophila)							136.0	119.0	125.0					1																	197325986		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197325986C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1014C>T	1.37:g.197325986C>T						CRB1_ENST00000367399.2_Silent_p.I226I|CRB1_ENST00000543483.1_Silent_p.I37I|CRB1_ENST00000538660.1_Silent_p.I338I|CRB1_ENST00000535699.1_Silent_p.I269I	p.I338I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			5	1149	+			338					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1014C>T	CCDS1390.1																																																																																				0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		5	35	0	0	0	1	0	5	35				
TUBB4A	10382	broad.mit.edu	37	19	6495605	6495605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6495605G>A	ENST00000264071.2	-	4	1276	c.905C>T	c.(904-906)gCg>gTg	p.A302V	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.A302V			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	302					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CGGGTCGCACGCCGCCATCAT	0.687																																						ENST00000264071.2																			0											c.(904-906)gCg>gTg		tubulin, beta 4A class IVa							60.0	58.0	58.0					19																	6495605		2201	4298	6499	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495605G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.905C>T	19.37:g.6495605G>A	ENSP00000264071:p.Ala302Val					TUBB4A_ENST00000540257.1_Missense_Mutation_p.A302V	p.A302V			P04350	TBB4_HUMAN			4	1276	-			302					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.905C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030954	0.35797	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.82255	-1.59;-1.59	3.71	3.71	0.42584	.	0.000000	0.64402	D	0.000002	D	0.92586	0.7645	H	0.96111	3.77	0.52501	D	0.999955	D	0.76494	0.999	P	0.60236	0.871	D	0.94918	0.8071	10	0.87932	D	0	.	14.2842	0.66235	0.0:0.0:1.0:0.0	.	302	P04350	TBB4A_HUMAN	V	302;302;220	ENSP00000264071:A302V;ENSP00000443590:A302V	ENSP00000264071:A302V	A	-	2	0	TUBB4	6446605	1.000000	0.71417	0.685000	0.30070	0.029000	0.11900	9.585000	0.98223	1.639000	0.50556	0.485000	0.47835	GCG		0.687	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		26	47	0	0	0	1	0	26	47				
SH3D19	152503	broad.mit.edu	37	4	152070714	152070714	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152070714C>A	ENST00000409252.2	-	9	1623		c.e9-1		SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000424281.1_Splice_Site|SH3D19_ENST00000304527.4_Splice_Site|SH3D19_ENST00000409598.4_Splice_Site|SH3D19_ENST00000427414.2_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site			Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGTTGGATTCCTGCAAGTAGC	0.408																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.e10-1		SH3 domain containing 19							129.0	118.0	122.0					4																	152070714		2203	4300	6503	SO:0001630	splice_region_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152070714C>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.916-1G>T	4.37:g.152070714C>A						SH3D19_ENST00000427414.2_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site|SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000424281.1_Splice_Site|SH3D19_ENST00000304527.4_Splice_Site|SH3D19_ENST00000409252.2_Splice_Site				Q5HYK7	SH319_HUMAN			10	2083	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)						B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Splice_Site	SNP	ENST00000409252.2	37		CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684902	0.47991	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8084	0.69974	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3D19	152290164	1.000000	0.71417	0.988000	0.46212	0.126000	0.20510	3.590000	0.53979	2.873000	0.98535	0.563000	0.77884	.		0.408	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	Intron	4	59	1	0	1.024e-07	1	1.214e-07	4	59				
OVCH1	341350	broad.mit.edu	37	12	29624883	29624883	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29624883A>G	ENST00000318184.5	-	16	1707	c.1708T>C	c.(1708-1710)Tgg>Cgg	p.W570R	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	570						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTGGAAAGCCACTGGGGACTA	0.498																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1708-1710)Tgg>Cgg		ovochymase 1							53.0	52.0	52.0					12																	29624883		1917	4116	6033	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29624883A>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1708T>C	12.37:g.29624883A>G	ENSP00000326708:p.Trp570Arg					OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.W570R	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			16	1707	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		570						Missense_Mutation	SNP	ENST00000318184.5	37	c.1708T>C		.	.	.	.	.	.	.	.	.	.	A	8.843	0.942740	0.18281	.	.	ENSG00000187950	ENST00000318184	D	0.85484	-1.99	2.17	2.17	0.27698	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.66858	0.2832	N	0.08118	0	0.21740	N	0.999568	P	0.37330	0.59	B	0.37047	0.24	T	0.57010	-0.7884	9	0.23891	T	0.37	.	5.1345	0.14928	0.8508:0.0:0.1492:0.0	.	570	Q7RTY7	OVCH1_HUMAN	R	570	ENSP00000326708:W570R	ENSP00000326708:W570R	W	-	1	0	OVCH1	29516150	0.900000	0.30661	0.961000	0.40146	0.982000	0.71751	1.352000	0.34033	1.251000	0.43983	0.533000	0.62120	TGG		0.498	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		6	14	0	0	0	1	0	6	14				
LLPH	84298	broad.mit.edu	37	12	66522867	66522867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66522867C>T	ENST00000266604.2	-	2	90	c.20G>A	c.(19-21)aGt>aAt	p.S7N	RP11-745O10.2_ENST00000510317.2_RNA|LLPH_ENST00000446587.2_Missense_Mutation_p.S7N|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	7	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTCCACTTACTCCGTAAGCT	0.348																																						ENST00000266604.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(19-21)aGt>aAt		LLP homolog, long-term synaptic facilitation (Aplysia)							84.0	81.0	82.0					12																	66522867		2203	4300	6503	SO:0001583	missense	84298							g.chr12:66522867C>T	AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"""human LAPS18-like protein"""		"""chromosome 12 open reading frame 31"""	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.20G>A	12.37:g.66522867C>T	ENSP00000266604:p.Ser7Asn					TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.S7N|TMBIM4_ENST00000556010.1_3'UTR	p.S7N	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN			2	90	-			7			Lys-rich.		Q3B766	Missense_Mutation	SNP	ENST00000266604.2	37	c.20G>A	CCDS8974.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622591	0.87460	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.86546	0.1831	8	.	.	.	-9.4372	16.9492	0.86239	0.0:1.0:0.0:0.0	.	7	Q9BRT6	LLPH_HUMAN	N	7	.	.	S	-	2	0	LLPH	64809134	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.726000	0.74758	2.283000	0.76528	0.467000	0.42956	AGT		0.348	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		36	36	0	0	0	1	0	36	36				
SYNRG	11276	broad.mit.edu	37	17	35896177	35896177	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35896177G>T	ENST00000339208.6	-	19	3710	c.3570C>A	c.(3568-3570)gcC>gcA	p.A1190A	SYNRG_ENST00000591288.1_Silent_p.A984A|SYNRG_ENST00000394378.2_Silent_p.A1112A|SYNRG_ENST00000345615.4_Silent_p.A1112A|SYNRG_ENST00000346661.4_Silent_p.A1190A|SYNRG_ENST00000585472.1_Silent_p.A1111A|SYNRG_ENST00000502449.2_Silent_p.A1067A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1190					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACTGCAGTGGCTTTTATCC	0.498																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3568-3570)gcC>gcA		synergin, gamma							158.0	127.0	138.0					17																	35896177		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35896177G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3570C>A	17.37:g.35896177G>T						SYNRG_ENST00000345615.4_Silent_p.A1112A|SYNRG_ENST00000585472.1_Silent_p.A1111A|SYNRG_ENST00000502449.2_Silent_p.A1067A|SYNRG_ENST00000394378.2_Silent_p.A1112A|SYNRG_ENST00000591288.1_Silent_p.A984A|SYNRG_ENST00000346661.4_Silent_p.A1190A	p.A1190A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			19	3710	-			1190					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3570C>A	CCDS11321.1																																																																																				0.498	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		4	30	1	0	0.150653	1	0.152692	4	30				
GBP7	388646	broad.mit.edu	37	1	89616141	89616141	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89616141T>C	ENST00000294671.2	-	6	881	c.743A>G	c.(742-744)cAt>cGt	p.H248R		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	248	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTCTTCAACATGGAGTAAGAG	0.398																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(742-744)cAt>cGt		guanylate binding protein 7							137.0	129.0	132.0					1																	89616141		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89616141T>C	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.743A>G	1.37:g.89616141T>C	ENSP00000294671:p.His248Arg						p.H248R	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	6	881	-		Lung NSC(277;0.0908)	248						Missense_Mutation	SNP	ENST00000294671.2	37	c.743A>G	CCDS720.1	.	.	.	.	.	.	.	.	.	.	T	3.348	-0.133225	0.06711	.	.	ENSG00000213512	ENST00000294671	T	0.73363	-0.74	3.4	-0.325	0.12702	Guanylate-binding protein, N-terminal (1);	0.877286	0.10193	N	0.704377	T	0.30324	0.0761	N	0.16307	0.4	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.21143	-1.0254	9	.	.	.	.	5.8216	0.18530	0.0:0.3941:0.0:0.6059	.	248	Q8N8V2	GBP7_HUMAN	R	248	ENSP00000294671:H248R	.	H	-	2	0	GBP7	89388729	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.742000	0.04850	-0.275000	0.09219	-0.526000	0.04340	CAT		0.398	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		29	79	0	0	0	1	0	29	79				
IFT81	28981	broad.mit.edu	37	12	110566865	110566865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110566865G>A	ENST00000242591.5	+	4	865	c.359G>A	c.(358-360)cGt>cAt	p.R120H	IFT81_ENST00000361948.4_Missense_Mutation_p.R120H|IFT81_ENST00000552912.1_Missense_Mutation_p.R120H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	120	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TATTTAGCTCGTTTTTTAATA	0.383																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(358-360)cGt>cAt		intraflagellar transport 81 homolog (Chlamydomonas)							79.0	79.0	79.0					12																	110566865		2203	4300	6503	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110566865G>A	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.359G>A	12.37:g.110566865G>A	ENSP00000242591:p.Arg120His					IFT81_ENST00000361948.4_Missense_Mutation_p.R120H|IFT81_ENST00000552912.1_Missense_Mutation_p.R120H	p.R120H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			4	865	+			120					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.359G>A	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601186	0.66332	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T;T	0.76448	1.26;-1.02	5.55	4.65	0.58169	.	0.050746	0.85682	D	0.000000	T	0.73860	0.3641	L	0.58583	1.82	0.80722	D	1	B;B	0.23249	0.082;0.061	B;B	0.16722	0.014;0.016	T	0.73808	-0.3866	10	0.66056	D	0.02	-10.2311	13.8117	0.63268	0.0733:0.0:0.9267:0.0	.	120;120	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	H	120	ENSP00000355372:R120H;ENSP00000446950:R120H	ENSP00000242591:R120H	R	+	2	0	IFT81	109051248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.618000	0.83043	2.612000	0.88384	0.467000	0.42956	CGT		0.383	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		29	35	0	0	0	1	0	29	35				
MUC20	200958	broad.mit.edu	37	3	195453068	195453068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195453068G>T	ENST00000447234.2	+	2	1720	c.1594G>T	c.(1594-1596)Gaa>Taa	p.E532*	MUC20_ENST00000320736.6_Nonsense_Mutation_p.E361*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.E532*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.E497*	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	532	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCCCTTGAAGAAACCTCAGC	0.562																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1081-1083)Gaa>Taa		mucin 20, cell surface associated							54.0	53.0	54.0					3																	195453068		2042	4192	6234	SO:0001587	stop_gained	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453068G>T	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1594G>T	3.37:g.195453068G>T	ENSP00000414350:p.Glu532*					MUC20_ENST00000436408.1_Nonsense_Mutation_p.E532*|MUC20_ENST00000447234.2_Nonsense_Mutation_p.E532*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.E497*	p.E361*	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1207	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	532		Missing.	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Nonsense_Mutation	SNP	ENST00000447234.2	37	c.1081G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.162420	0.97338	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.	.	.	3.97	3.07	0.35406	.	0.500464	0.16911	N	0.194507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.2773	8.0843	0.30762	0.1158:0.0:0.8842:0.0	.	.	.	.	X	532;361;532;497	.	ENSP00000325431:E361X	E	+	1	0	MUC20	196938739	0.362000	0.24980	0.043000	0.18650	0.005000	0.04900	0.927000	0.28818	0.979000	0.38497	0.514000	0.50259	GAA		0.562	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		6	12	1	0	0.00116845	1	0.00124821	6	12				
ZNF266	10781	broad.mit.edu	37	19	9525241	9525241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525241C>A	ENST00000592904.1	-	5	2436	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ZNF266_ENST00000592292.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361451.2_Missense_Mutation_p.K120N|ZNF266_ENST00000361151.1_Missense_Mutation_p.K120N|ZNF266_ENST00000588221.1_Missense_Mutation_p.K120N|ZNF266_ENST00000588933.1_Missense_Mutation_p.K120N|ZNF266_ENST00000590306.1_Missense_Mutation_p.K120N			Q14584	ZN266_HUMAN	zinc finger protein 266	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TAGAGGTTTTCTTGTGCAGAG	0.438																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(358-360)aaG>aaT		zinc finger protein 266							133.0	126.0	128.0					19																	9525241		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9525241C>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.360G>T	19.37:g.9525241C>A	ENSP00000466714:p.Lys120Asn					ZNF266_ENST00000588933.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361151.1_Missense_Mutation_p.K120N|ZNF266_ENST00000592292.1_Missense_Mutation_p.K120N|ZNF266_ENST00000588221.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361451.2_Missense_Mutation_p.K120N|ZNF266_ENST00000590306.1_Missense_Mutation_p.K120N	p.K120N			Q14584	ZN266_HUMAN			5	2436	-			120					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.360G>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	3.285	-0.146296	0.06627	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.29397	1.57;1.57	2.42	0.181	0.15073	.	.	.	.	.	T	0.22898	0.0553	L	0.49256	1.55	0.09310	N	1	B	0.20887	0.049	B	0.13407	0.009	T	0.33137	-0.9880	9	0.72032	D	0.01	.	2.1225	0.03729	0.2566:0.4424:0.0:0.3011	.	120	Q14584	ZN266_HUMAN	N	120	ENSP00000354680:K120N;ENSP00000355047:K120N	ENSP00000355047:K120N	K	-	3	2	ZNF266	9386241	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.298000	0.08265	0.115000	0.18071	0.555000	0.69702	AAG		0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			15	115	1	0	2.32078e-09	1	2.82054e-09	15	115				
CRYZL1	9946	broad.mit.edu	37	21	34985901	34985901	+	Missense_Mutation	SNP	G	G	T	rs147398519		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34985901G>T	ENST00000381554.3	-	6	359	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	CRYZL1_ENST00000361534.2_Missense_Mutation_p.L116M|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Missense_Mutation_p.L92M|CRYZL1_ENST00000290244.5_Missense_Mutation_p.L77M	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	92					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						TCAGAGTCCAGGGGCAAAATT	0.358											OREG0003568	type=REGULATORY REGION|Gene=CRYZL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(346-348)Ctg>Atg		crystallin, zeta (quinone reductase)-like 1							75.0	74.0	74.0					21																	34985901		2203	4300	6503	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34985901G>T	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.274C>A	21.37:g.34985901G>T	ENSP00000370966:p.Leu92Met		OREG0003568	type=REGULATORY REGION|Gene=CRYZL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Missense_Mutation_p.L92M|CRYZL1_ENST00000381554.3_Missense_Mutation_p.L92M|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Missense_Mutation_p.L77M	p.L116M			O95825	QORL1_HUMAN			7	485	-			92					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.346C>A	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.946|9.946	1.218712|1.218712	0.22373|0.22373	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534;ENST00000452332;ENST00000426935;ENST00000431177;ENST00000417979|ENST00000440526	T;T;T;T;T;T|T	0.47177|0.26660	3.52;0.85;3.52;3.52;1.47;3.52|1.72	5.4|5.4	0.0926|0.0926	0.14473|0.14473	GroES-like (1);Alcohol dehydrogenase GroES-like (1);|.	0.067964|.	0.64402|.	D|.	0.000012|.	T|T	0.23727|0.23727	0.0574|0.0574	L|L	0.39326|0.39326	1.205|1.205	0.58432|0.58432	D|D	0.999997|0.999997	P;P|.	0.44309|.	0.832;0.832|.	P;P|.	0.47346|.	0.447;0.544|.	T|T	0.12319|0.12319	-1.0552|-1.0552	10|7	0.41790|0.87932	T|D	0.15|0	-15.255|-15.255	3.8502|3.8502	0.08951|0.08951	0.3617:0.0:0.4788:0.1595|0.3617:0.0:0.4788:0.1595	.|.	92;116|.	O95825;A6NHJ8|.	QORL1_HUMAN;.|.	M|H	92;77;92;116;92;40;92;40|35	ENSP00000370966:L92M;ENSP00000290244:L77M;ENSP00000370951:L92M;ENSP00000355075:L116M;ENSP00000387660:L40M;ENSP00000405510:L92M|ENSP00000412087:P35H	ENSP00000290244:L77M|ENSP00000412087:P35H	L|P	-|-	1|2	2|0	CRYZL1|CRYZL1	33907771|33907771	0.997000|0.997000	0.39634|0.39634	0.932000|0.932000	0.37286|0.37286	0.593000|0.593000	0.36681|0.36681	1.898000|1.898000	0.39809|0.39809	0.071000|0.071000	0.16664|0.16664	-0.140000|-0.140000	0.14226|0.14226	CTG|CCT		0.358	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		6	74	1	0	0.0215528	1	0.0221649	6	74				
SCUBE2	57758	broad.mit.edu	37	11	9111361	9111361	+	Missense_Mutation	SNP	G	G	A	rs72549211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9111361G>A	ENST00000309263.3	-	2	221	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000520467.1_Missense_Mutation_p.A50V|SCUBE2_ENST00000457346.2_Missense_Mutation_p.A50V|MIR5691_ENST00000579525.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A50V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	50	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAGCCCTTGGGCACACTCATC	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		19822	0.0		0.0	False		,,,				2504	0.0					ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(148-150)gCc>gTc		signal peptide, CUB domain, EGF-like 2		G	VAL/ALA,VAL/ALA	3,4399	6.2+/-15.9	0,3,2198	215.0	168.0	184.0		149,149	4.8	1.0	11	dbSNP_130	184	0,8592		0,0,4296	no	missense,missense	SCUBE2	NM_001170690.1,NM_020974.2	64,64	0,3,6494	AA,AG,GG		0.0,0.0682,0.0231	benign,benign	50/808,50/972	9111361	3,12991	2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9111361G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.149C>T	11.37:g.9111361G>A	ENSP00000310658:p.Ala50Val					SCUBE2_ENST00000520467.1_Missense_Mutation_p.A50V|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A50V|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000309263.3_Missense_Mutation_p.A50V	p.A50V			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	2	223	-			50			EGF-like 1; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.149C>T		.	.	.	.	.	.	.	.	.	.	G	19.82	3.898270	0.72639	6.82E-4	0.0	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	4.83	4.83	0.62350	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.152636	0.64402	D	0.000018	D	0.92740	0.7692	L	0.60845	1.875	0.80722	D	1	P;P;P	0.46142	0.837;0.846;0.873	B;P;P	0.51945	0.431;0.557;0.685	D	0.91584	0.5281	10	0.35671	T	0.21	.	14.2664	0.66121	0.0:0.15:0.85:0.0	.	50;50;50	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	V	50	ENSP00000390481:A50V;ENSP00000310658:A50V;ENSP00000415187:A50V;ENSP00000429969:A50V	ENSP00000310658:A50V	A	-	2	0	SCUBE2	9067937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.172000	0.65003	2.496000	0.84212	0.557000	0.71058	GCC		0.592	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		44	62	0	0	0	1	0	44	62				
KIAA1598	57698	broad.mit.edu	37	10	118700088	118700088	+	Silent	SNP	G	G	A	rs527998983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118700088G>A	ENST00000355371.4	-	9	1244	c.747C>T	c.(745-747)agC>agT	p.S249S	KIAA1598_ENST00000260777.10_Silent_p.S249S|KIAA1598_ENST00000392901.4_Silent_p.S189S|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.S249S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	249					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGAAGGTGGCTTTGTCTCT	0.398																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(745-747)agC>agT		KIAA1598							182.0	170.0	174.0					10																	118700088		2203	4300	6503	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118700088G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.747C>T	10.37:g.118700088G>A						KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.S189S|KIAA1598_ENST00000392903.2_Silent_p.S249S|KIAA1598_ENST00000260777.10_Silent_p.S249S	p.S249S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	9	1244	-			249					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.747C>T	CCDS44482.1																																																																																				0.398	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		30	47	0	0	0	1	0	30	47				
SREK1	140890	broad.mit.edu	37	5	65473450	65473450	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:65473450G>A	ENST00000380918.3	+	12	2001	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Silent_p.G563G	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	447	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ATAGAGATGGGAAGGAGAAGT	0.383																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(1687-1689)ggG>ggA		splicing regulatory glutamine/lysine-rich protein 1							169.0	149.0	156.0					5																	65473450		2203	4300	6503	SO:0001819	synonymous_variant	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65473450G>A	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1341G>A	5.37:g.65473450G>A						SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Silent_p.G447G	p.G563G	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			11	1848	+			447					A4FTW3|Q2M1J0|Q86X37	Silent	SNP	ENST00000380918.3	37	c.1689G>A	CCDS3991.1																																																																																				0.383	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		46	76	0	0	0	1	0	46	76				
FBXW10	10517	broad.mit.edu	37	17	18653282	18653282	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18653282G>A	ENST00000395665.4	+	4	1092				FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000308799.4_Nonsense_Mutation_p.W306*|FBXW10_ENST00000301938.4_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCCTCTTGGCCCAGTTCTG	0.532																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(916-918)tgG>tgA		F-box and WD repeat domain containing 10							48.0	48.0	48.0					17																	18653282		2203	4300	6503	SO:0001627	intron_variant	10517							g.chr17:18653282G>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.872-41G>A	17.37:g.18653282G>A						FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron	p.W306*			Q5XX13	FBW10_HUMAN			3	1137	+			293			F-box.		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Nonsense_Mutation	SNP	ENST00000395665.4	37	c.918G>A	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790341	0.70337	.	.	ENSG00000171931	ENST00000308799	.	.	.	2.49	0.4	0.16331	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	4.1284	0.10138	0.3726:0.0:0.6274:0.0	.	.	.	.	X	306	.	ENSP00000310382:W306X	W	+	3	0	FBXW10	18594007	0.000000	0.05858	0.007000	0.13788	0.331000	0.28603	0.164000	0.16542	0.376000	0.24707	0.405000	0.27470	TGG		0.532	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		18	37	0	0	0	1	0	18	37				
NOS3	4846	broad.mit.edu	37	7	150711138	150711138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150711138C>T	ENST00000297494.3	+	27	3850	c.3493C>T	c.(3493-3495)Cgc>Tgc	p.R1165C	NOS3_ENST00000461406.1_Missense_Mutation_p.R959C|ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000444312.1_Intron|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_Intron|ATG9B_ENST00000377974.2_Intron	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCACGCTGCGCACCCAGGA	0.617																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3493-3495)Cgc>Tgc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						44.0	38.0	40.0					7																	150711138		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150711138C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3493C>T	7.37:g.150711138C>T	ENSP00000297494:p.Arg1165Cys					NOS3_ENST00000461406.1_Missense_Mutation_p.R959C|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000377974.2_Intron|ATG9B_ENST00000494791.1_Intron|ATG9B_ENST00000444312.1_Intron	p.R1165C	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	27	3850	+	all_neural(206;0.219)		1165					Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.3493C>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667864	0.88348	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.02709	4.3;4.19	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000018	T	0.12347	0.0300	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.962	T	0.00019	-1.2358	10	0.87932	D	0	-9.8967	11.1334	0.48360	0.1839:0.8161:0.0:0.0	.	959;1165	E7ESA7;P29474	.;NOS3_HUMAN	C	1165;959	ENSP00000297494:R1165C;ENSP00000417143:R959C	ENSP00000297494:R1165C	R	+	1	0	NOS3	150342071	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.028000	0.49705	2.688000	0.91661	0.591000	0.81541	CGC		0.617	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		17	19	0	0	0	1	0	17	19				
APBB2	323	broad.mit.edu	37	4	41015670	41015670	+	Silent	SNP	C	C	T	rs372763494		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015670C>T	ENST00000295974.8	-	6	1394	c.765G>A	c.(763-765)ccG>ccA	p.P255P	APBB2_ENST00000513140.1_Silent_p.P255P|APBB2_ENST00000508593.1_Silent_p.P255P|APBB2_ENST00000506352.1_Silent_p.P255P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	255					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCTCATCGCTCGGTGCCAGGT	0.582																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(763-765)ccG>ccA		amyloid beta (A4) precursor protein-binding, family B, member 2		C	,,	1,4129		0,1,2064	241.0	238.0	239.0		765,765,765	-12.1	0.0	4		239	0,8404		0,0,4202	no	coding-synonymous,coding-synonymous,coding-synonymous	APBB2	NM_001166050.1,NM_004307.1,NM_173075.4	,,	0,1,6266	TT,TC,CC		0.0,0.0242,0.0080	,,	255/759,255/760,255/737	41015670	1,12533	2065	4202	6267	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41015670C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.765G>A	4.37:g.41015670C>T						APBB2_ENST00000513140.1_Silent_p.P255P|APBB2_ENST00000508593.1_Silent_p.P255P|APBB2_ENST00000506352.1_Silent_p.P255P	p.P255P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1394	-			255					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.765G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.407595	0.01155	2.42E-4	0.0	ENSG00000163697	ENST00000513611	.	.	.	6.04	-12.1	0.00011	.	.	.	.	.	T	0.57636	0.2067	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.79610	-0.1732	4	.	.	.	-19.4563	14.5345	0.67950	0.0:0.1277:0.2851:0.5871	.	.	.	.	K	245	.	.	E	-	1	0	APBB2	40710427	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.465000	0.00229	-5.368000	0.00016	-2.909000	0.00091	GAG		0.582	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		19	280	0	0	0	1	0	19	280				
MPP1	4354	broad.mit.edu	37	X	154020423	154020423	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154020423C>T	ENST00000369534.3	-	2	387	c.240G>A	c.(238-240)gaG>gaA	p.E80E	MPP1_ENST00000393531.1_Silent_p.E80E|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000413259.3_Silent_p.E50E	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	80	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTACCATGGGCTCTTCTGTGA	0.557																																						ENST00000413259.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(148-150)gaG>gaA		membrane protein, palmitoylated 1, 55kDa							121.0	104.0	110.0					X																	154020423		2203	4300	6503	SO:0001819	synonymous_variant	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154020423C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.240G>A	X.37:g.154020423C>T						MPP1_ENST00000369534.3_Silent_p.E80E|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Silent_p.E80E	p.E50E	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			3	542	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		80					B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Silent	SNP	ENST00000369534.3	37	c.150G>A	CCDS14762.1																																																																																				0.557	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		4	112	0	0	0	1	0	4	112				
FOXC2	2303	broad.mit.edu	37	16	86600952	86600952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86600952G>A	ENST00000320354.4	+	1	96	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	4					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ATGCAGGCGCGCTACTCCGTG	0.721									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(10-12)cGc>cAc		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							29.0	33.0	32.0					16																	86600952		2197	4290	6487	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86600952G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.11G>A	16.37:g.86600952G>A	ENSP00000326371:p.Arg4His					RP11-463O9.5_ENST00000563280.1_RNA	p.R4H	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	96	+			4					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.11G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062004	0.93846	.	.	ENSG00000176692	ENST00000320354	D	0.97378	-4.36	3.49	3.49	0.39957	.	0.380787	0.21379	U	0.075514	D	0.94489	0.8226	M	0.62723	1.935	0.48511	D	0.999665	P	0.47106	0.89	B	0.33568	0.166	D	0.94871	0.8030	10	0.87932	D	0	.	13.7902	0.63135	0.0:0.0:1.0:0.0	.	4	Q99958	FOXC2_HUMAN	H	4	ENSP00000326371:R4H	ENSP00000326371:R4H	R	+	2	0	FOXC2	85158453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.928000	0.92853	1.800000	0.52685	0.556000	0.70494	CGC		0.721	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		14	17	0	0	0	1	0	14	17				
TEAD1	7003	broad.mit.edu	37	11	12904600	12904600	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904600C>T	ENST00000526600.1	+	4	562	c.339C>T	c.(337-339)cgC>cgT	p.R113R	TEAD1_ENST00000334310.6_Silent_p.R198R|TEAD1_ENST00000361985.2_Silent_p.R209R|TEAD1_ENST00000361905.4_Silent_p.R194R|TEAD1_ENST00000527636.1_Silent_p.R209R|TEAD1_ENST00000527575.1_Silent_p.R209R			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	209					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAAGGTCGCTCCATTGGCA	0.577																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(580-582)cgC>cgT		TEA domain family member 1 (SV40 transcriptional enhancer factor)							122.0	104.0	110.0					11																	12904600		2200	4294	6494	SO:0001819	synonymous_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12904600C>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.339C>T	11.37:g.12904600C>T						TEAD1_ENST00000526600.1_Silent_p.R113R|TEAD1_ENST00000527575.1_Silent_p.R209R|TEAD1_ENST00000334310.6_Silent_p.R198R|TEAD1_ENST00000527636.1_Silent_p.R209R|TEAD1_ENST00000361985.2_Silent_p.R209R	p.R194R	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	9	1247	+			209			Pro-rich.|Transcriptional activation (Potential).		A4FUP2|E7EV65	Silent	SNP	ENST00000526600.1	37	c.582C>T																																																																																					0.577	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		28	59	0	0	0	1	0	28	59				
TMEM260	54916	broad.mit.edu	37	14	57075990	57075990	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:57075990G>T	ENST00000261556.6	+	6	925	c.803G>T	c.(802-804)gGa>gTa	p.G268V	TMEM260_ENST00000538838.1_Missense_Mutation_p.G268V|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	268						integral component of membrane (GO:0016021)											GAAGAATATGGAACCTTCAGC	0.438																																						ENST00000261556.6																			0											c.(802-804)gGa>gTa		transmembrane protein 260							85.0	88.0	87.0					14																	57075990		2203	4300	6503	SO:0001583	missense	54916							g.chr14:57075990G>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.803G>T	14.37:g.57075990G>T	ENSP00000261556:p.Gly268Val					TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.G268V	p.G268V	NM_017799.3	NP_060269.3					6	925	+								A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.803G>T	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975761	0.92982	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.53857	1.23;0.6	5.76	5.76	0.90799	.	0.098655	0.64402	D	0.000002	T	0.75466	0.3853	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76132	-0.3071	10	0.66056	D	0.02	-17.9756	20.3431	0.98773	0.0:0.0:1.0:0.0	.	268	Q9NX78	CN101_HUMAN	V	268	ENSP00000261556:G268V;ENSP00000441934:G268V	ENSP00000261556:G268V	G	+	2	0	C14orf101	56145743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.675000	0.98638	2.880000	0.98712	0.650000	0.86243	GGA		0.438	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		5	64	1	0	0.0215528	1	0.0221649	5	64				
SESTD1	91404	broad.mit.edu	37	2	179982307	179982307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179982307C>A	ENST00000428443.3	-	14	1792	c.1476G>T	c.(1474-1476)aaG>aaT	p.K492N		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	492							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTGAAGCATCTTTAACCTTC	0.343																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(1474-1476)aaG>aaT		SEC14 and spectrin domains 1							198.0	171.0	180.0					2																	179982307		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179982307C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1476G>T	2.37:g.179982307C>A	ENSP00000415332:p.Lys492Asn						p.K492N	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		14	1792	-			492					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.1476G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953100	0.73902	.	.	ENSG00000187231	ENST00000428443	T	0.37584	1.19	5.48	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.27053	0.805	0.53688	D	0.999977	D	0.57899	0.981	D	0.67231	0.95	T	0.08391	-1.0724	9	.	.	.	-22.1351	8.2971	0.31993	0.0:0.694:0.0:0.306	.	492	Q86VW0	SESD1_HUMAN	N	492	ENSP00000415332:K492N	.	K	-	3	2	SESTD1	179690552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.268000	0.43338	0.684000	0.31448	0.585000	0.79938	AAG		0.343	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		41	72	1	0	1.86633e-21	1	2.45679e-21	41	72				
OR51B6	390058	broad.mit.edu	37	11	5373625	5373625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5373625G>T	ENST00000380219.1	+	1	888	c.888G>T	c.(886-888)caG>caT	p.Q296H	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTAAGCAGATTCAGAGTG	0.418																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(886-888)caG>caT		olfactory receptor, family 51, subfamily B, member 6							105.0	105.0	105.0					11																	5373625		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373625G>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.888G>T	11.37:g.5373625G>T	ENSP00000369568:p.Gln296His					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	p.Q296H	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	888	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	296						Missense_Mutation	SNP	ENST00000380219.1	37	c.888G>T	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	8.643	0.896457	0.17686	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.38887	1.11	5.13	-0.173	0.13322	.	0.000000	0.50627	D	0.000118	T	0.45538	0.1347	M	0.87547	2.89	0.33095	D	0.538402	B	0.31859	0.343	B	0.33620	0.167	T	0.57236	-0.7846	10	0.66056	D	0.02	.	9.1099	0.36720	0.5139:0.0:0.4861:0.0	.	296	Q9H340	O51B6_HUMAN	H	295;296	ENSP00000369568:Q296H	ENSP00000369568:Q296H	Q	+	3	2	OR51B6	5330201	0.139000	0.22563	0.969000	0.41365	0.242000	0.25591	-0.506000	0.06359	0.079000	0.16929	0.650000	0.86243	CAG		0.418	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		6	113	1	0	0.00198382	1	0.00210581	6	113				
ALDH1A3	220	broad.mit.edu	37	15	101425524	101425524	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101425524C>T	ENST00000329841.5	+	2	684	c.152C>T	c.(151-153)aCa>aTa	p.T51I	ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.T51I|RP11-66B24.8_ENST00000558568.1_lincRNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AAGTTTGCTACATGTAACCCT	0.338																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(151-153)aCa>aTa		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						100.0	100.0	100.0					15																	101425524		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425524C>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.152C>T	15.37:g.101425524C>T	ENSP00000332256:p.Thr51Ile					ALDH1A3_ENST00000346623.6_Missense_Mutation_p.T51I|ALDH1A3_ENST00000560555.1_3'UTR	p.T51I	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	684	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		51					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.152C>T	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248325	0.80024	.	.	ENSG00000184254	ENST00000329841;ENST00000415812;ENST00000346623	T	0.15603	2.41	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.095435	0.64402	D	0.000001	T	0.27349	0.0671	N	0.25957	0.775	0.25690	N	0.985692	P;D;D	0.61697	0.919;0.983;0.99	P;D;D	0.67103	0.563;0.949;0.944	T	0.06972	-1.0797	10	0.72032	D	0.01	.	12.7832	0.57489	0.0:0.9246:0.0:0.0754	.	62;51;51	Q7Z3A2;B2R5T2;P47895	.;.;AL1A3_HUMAN	I	51;51;62	ENSP00000332256:T51I	ENSP00000332256:T51I	T	+	2	0	ALDH1A3	99243047	0.752000	0.28338	0.995000	0.50966	0.991000	0.79684	2.212000	0.42835	2.698000	0.92095	0.561000	0.74099	ACA		0.338	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			24	41	0	0	0	1	0	24	41				
IMPG1	3617	broad.mit.edu	37	6	76715175	76715175	+	Missense_Mutation	SNP	G	G	T	rs140525637		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76715175G>T	ENST00000369950.3	-	10	1153	c.964C>A	c.(964-966)Ctc>Atc	p.L322I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGACAGGAGGTCACTTGCA	0.453																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(964-966)Ctc>Atc		interphotoreceptor matrix proteoglycan 1							147.0	133.0	138.0					6																	76715175		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715175G>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.964C>A	6.37:g.76715175G>T	ENSP00000358966:p.Leu322Ile					IMPG1_ENST00000369963.3_3'UTR	p.L322I	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			10	1153	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	322			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.964C>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307522	0.23821	.	.	ENSG00000112706	ENST00000369950	T	0.47177	0.85	5.82	3.97	0.46021	SEA (2);	0.577790	0.16706	N	0.202885	T	0.19886	0.0478	L	0.47716	1.5	0.09310	N	1	B	0.28258	0.205	B	0.35114	0.196	T	0.25363	-1.0134	10	0.32370	T	0.25	.	3.6017	0.08027	0.085:0.1419:0.4808:0.2922	.	322	Q17R60	IMPG1_HUMAN	I	322	ENSP00000358966:L322I	ENSP00000358966:L322I	L	-	1	0	IMPG1	76771895	0.006000	0.16342	0.007000	0.13788	0.882000	0.50991	0.308000	0.19314	0.731000	0.32448	0.585000	0.79938	CTC		0.453	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		28	46	1	0	2.44723e-14	1	3.12147e-14	28	46				
CLASP1	23332	broad.mit.edu	37	2	122125203	122125203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122125203C>A	ENST00000263710.4	-	35	4236	c.3847G>T	c.(3847-3849)Gag>Tag	p.E1283*	CLASP1_ENST00000455322.2_Nonsense_Mutation_p.E1239*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.E1000*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.E1222*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.E990*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.E1223*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.E1216*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1283	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AACACAGCCTCTTTCAGGGCG	0.607																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3847-3849)Gag>Tag		cytoplasmic linker associated protein 1							116.0	120.0	119.0					2																	122125203		2087	4220	6307	SO:0001587	stop_gained	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122125203C>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3847G>T	2.37:g.122125203C>A	ENSP00000263710:p.Glu1283*					CLASP1_ENST00000397587.3_Nonsense_Mutation_p.E1223*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.E1222*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.E990*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.E1000*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.E1239*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.E1216*	p.E1283*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			35	4236	-	Renal(3;0.0496)		1283			Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Nonsense_Mutation	SNP	ENST00000263710.4	37	c.3847G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.365243	0.99150	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	.	.	.	5.47	4.58	0.56647	.	0.147380	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.9102	15.8468	0.78899	0.1371:0.8629:0.0:0.0	.	.	.	.	X	1283;1239;1223;1222;1000;1216;990	.	ENSP00000263710:E1283X	E	-	1	0	CLASP1	121841673	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	5.662000	0.68032	1.419000	0.47118	-0.293000	0.09583	GAG		0.607	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		28	40	1	0	1.50538e-07	1	1.77473e-07	28	40				
ZMYM6	9204	broad.mit.edu	37	1	35457973	35457973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457973C>A	ENST00000357182.4	-	15	2235	c.2008G>T	c.(2008-2010)Gat>Tat	p.D670Y	ZMYM6_ENST00000487874.1_Missense_Mutation_p.D670Y|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.D670Y	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	670					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTCATAGCATCTTCCTGTGTA	0.373																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(2008-2010)Gat>Tat		zinc finger, MYM-type 6							132.0	126.0	128.0					1																	35457973		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35457973C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2008G>T	1.37:g.35457973C>A	ENSP00000349708:p.Asp670Tyr					ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.D670Y|ZMYM6_ENST00000487874.1_Missense_Mutation_p.D670Y	p.D670Y	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			15	2235	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	670					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.2008G>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018149	0.35606	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.27104	1.69;2.83	4.47	2.56	0.30785	.	0.336370	0.30464	N	0.009561	T	0.42675	0.1213	L	0.61218	1.895	0.45354	D	0.998344	P;P;D	0.56287	0.91;0.913;0.975	P;P;D	0.65987	0.62;0.832;0.94	T	0.28396	-1.0045	10	0.87932	D	0	-5.8124	9.6874	0.40107	0.0:0.7787:0.1417:0.0797	.	573;670;670	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	Y	670	ENSP00000362437:D670Y;ENSP00000349708:D670Y	ENSP00000349708:D670Y	D	-	1	0	ZMYM6	35230560	1.000000	0.71417	0.485000	0.27403	0.240000	0.25518	1.465000	0.35299	0.600000	0.29862	0.585000	0.79938	GAT		0.373	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		31	45	1	0	4.15321e-07	1	4.86422e-07	31	45				
NEB	4703	broad.mit.edu	37	2	152581430	152581430	+	Missense_Mutation	SNP	C	C	T	rs376288418		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152581430C>T	ENST00000172853.10	-	7	595	c.448G>A	c.(448-450)Gta>Ata	p.V150I	NEB_ENST00000409198.1_Missense_Mutation_p.V150I|NEB_ENST00000604864.1_Missense_Mutation_p.V150I|NEB_ENST00000603639.1_Missense_Mutation_p.V150I|NEB_ENST00000427231.2_Missense_Mutation_p.V150I|NEB_ENST00000397345.3_Missense_Mutation_p.V150I			P20929	NEBU_HUMAN	nebulin	150					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCATCTACGTGACATATA	0.408																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(448-450)Gta>Ata		nebulin		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4043		0,1,2021	254.0	225.0	234.0		448,448,448	5.9	0.9	2		234	0,8374		0,0,4187	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,6208	TT,TC,CC		0.0,0.0247,0.0081	possibly-damaging,possibly-damaging,possibly-damaging	150/8526,150/8526,150/6670	152581430	1,12417	2022	4187	6209	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152581430C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.448G>A	2.37:g.152581430C>T	ENSP00000172853:p.Val150Ile					NEB_ENST00000409198.1_Missense_Mutation_p.V150I|NEB_ENST00000397345.3_Missense_Mutation_p.V150I|NEB_ENST00000603639.1_Missense_Mutation_p.V150I|NEB_ENST00000604864.1_Missense_Mutation_p.V150I|NEB_ENST00000172853.10_Missense_Mutation_p.V150I	p.V150I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	7	650	-			150					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.448G>A		.	.	.	.	.	.	.	.	.	.	C	18.85	3.711195	0.68730	2.47E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.06142	3.34;3.36;3.36;3.34	5.93	5.93	0.95920	.	0.142451	0.48286	D	0.000183	T	0.11965	0.0291	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	P	0.55161	0.77	T	0.24870	-1.0148	10	0.22109	T	0.4	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	150	P20929	NEBU_HUMAN	I	150	ENSP00000386259:V150I;ENSP00000380505:V150I;ENSP00000416578:V150I;ENSP00000172853:V150I	ENSP00000172853:V150I	V	-	1	0	NEB	152289676	0.999000	0.42202	0.944000	0.38274	0.829000	0.46940	4.745000	0.62125	2.814000	0.96858	0.655000	0.94253	GTA		0.408	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		14	26	0	0	0	1	0	14	26				
CRYGB	1419	broad.mit.edu	37	2	209007577	209007577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:209007577C>A	ENST00000260988.4	-	3	360	c.313G>T	c.(313-315)Gag>Tag	p.E105*		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	105	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TCTGTGAGCTCTGACATTTGT	0.488																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.(313-315)Gag>Tag		crystallin, gamma B							146.0	148.0	147.0					2																	209007577		2203	4300	6503	SO:0001587	stop_gained	1419				visual perception		structural constituent of eye lens	g.chr2:209007577C>A		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.313G>T	2.37:g.209007577C>A	ENSP00000260988:p.Glu105*						p.E105*	NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	3	360	-			105			Beta/gamma crystallin 'Greek key' 3.		Q17RB5|Q53ST2	Nonsense_Mutation	SNP	ENST00000260988.4	37	c.313G>T	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802527	0.70682	.	.	ENSG00000182187	ENST00000260988	.	.	.	4.64	4.64	0.57946	.	0.047467	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3667	0.74529	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000260988:E105X	E	-	1	0	CRYGB	208715822	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	7.443000	0.80521	2.567000	0.86603	0.561000	0.74099	GAG		0.488	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		5	177	1	0	0.014758	1	0.0152625	5	177				
BRINP1	1620	broad.mit.edu	37	9	121976432	121976432	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:121976432A>G	ENST00000265922.3	-	6	1148	c.687T>C	c.(685-687)ggT>ggC	p.G229G	BRINP1_ENST00000373964.2_Splice_Site_p.G229G	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	229	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TTATCTGAAGACCTGTGTGAG	0.418																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.e6-1									63.0	58.0	60.0					9																	121976432		2203	4300	6503	SO:0001630	splice_region_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121976432A>G	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.686-1T>C	9.37:g.121976432A>G						DBC1_ENST00000373964.2_Splice_Site_p.G229_splice	p.G229_splice	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			6	1148	-			229			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Splice_Site	SNP	ENST00000265922.3	37	c.685_splice	CCDS6822.1																																																																																				0.418	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	Silent	13	32	0	0	0	1	0	13	32				
TNPO2	30000	broad.mit.edu	37	19	12821552	12821552	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12821552T>C	ENST00000592287.1	-	12	1261	c.1153A>G	c.(1153-1155)Aat>Gat	p.N385D	TNPO2_ENST00000450764.2_Missense_Mutation_p.N385D|TNPO2_ENST00000589956.1_5'Flank|TNPO2_ENST00000356861.5_Missense_Mutation_p.N385D|TNPO2_ENST00000425528.1_Missense_Mutation_p.N385D|TNPO2_ENST00000588216.1_Missense_Mutation_p.N385D|TNPO2_ENST00000441499.1_Missense_Mutation_p.N385D	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	385					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAAGACATTGGCGAGGACG	0.652																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1153-1155)Aat>Gat		transportin 2							36.0	42.0	40.0					19																	12821552		2075	4182	6257	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12821552T>C	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1153A>G	19.37:g.12821552T>C	ENSP00000468434:p.Asn385Asp					TNPO2_ENST00000356861.5_Missense_Mutation_p.N385D|TNPO2_ENST00000588216.1_Missense_Mutation_p.N385D|TNPO2_ENST00000441499.1_Missense_Mutation_p.N385D|TNPO2_ENST00000592287.1_Missense_Mutation_p.N385D|TNPO2_ENST00000450764.2_Missense_Mutation_p.N385D	p.N385D			O14787	TNPO2_HUMAN			13	1510	-			385					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1153A>G	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633423	0.67015	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	M	0.82923	2.615	0.58432	D	0.999999	B;B	0.24186	0.099;0.075	B;B	0.37047	0.24;0.086	T	0.73987	-0.3809	10	0.46703	T	0.11	-17.3651	14.0114	0.64498	0.0:0.0:0.0:1.0	.	549;385	Q4LE60;O14787	.;TNPO2_HUMAN	D	549;385;385;385;385;385;385	ENSP00000407182:N385D;ENSP00000389648:N385D;ENSP00000397379:N385D;ENSP00000349321:N385D	ENSP00000349321:N385D	N	-	1	0	TNPO2	12682552	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.698000	0.84413	1.949000	0.56562	0.459000	0.35465	AAT		0.652	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		8	4	0	0	0	1	0	8	4				
MARVELD2	153562	broad.mit.edu	37	5	68716065	68716065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68716065G>A	ENST00000325631.5	+	2	927	c.853G>A	c.(853-855)Gac>Aac	p.D285N	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	285	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CATTCTTCTGGACTCTAATTG	0.433																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(853-855)Gac>Aac		MARVEL domain containing 2							202.0	191.0	195.0					5																	68716065		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68716065G>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.853G>A	5.37:g.68716065G>A	ENSP00000323264:p.Asp285Asn					MARVELD2_ENST00000413223.2_Intron	p.D285N	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	927	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	285			MARVEL.		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.853G>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063909	0.93898	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803	T;T;T	0.58506	0.33;0.33;0.33	5.23	5.23	0.72850	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79631	-0.1723	10	0.87932	D	0	-25.0091	17.584	0.87976	0.0:0.0:1.0:0.0	.	285;285;285	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	N	285	ENSP00000323264:D285N;ENSP00000396244:D285N;ENSP00000423490:D285N	ENSP00000282886:D285N	D	+	1	0	MARVELD2	68751821	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.773000	0.98989	2.455000	0.83008	0.561000	0.74099	GAC		0.433	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		43	52	0	0	0	1	0	43	52				
CADPS	8618	broad.mit.edu	37	3	62751556	62751556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62751556C>A	ENST00000383710.4	-	2	894	c.545G>T	c.(544-546)aGt>aTt	p.S182I	CADPS_ENST00000357948.3_Missense_Mutation_p.S182I|CADPS_ENST00000283269.9_Missense_Mutation_p.S182I|CADPS_ENST00000490353.2_Missense_Mutation_p.S182I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	182					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCATAGTAACTCTGCACAGC	0.522																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(544-546)aGt>aTt		Ca++-dependent secretion activator							130.0	114.0	119.0					3																	62751556		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751556C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.545G>T	3.37:g.62751556C>A	ENSP00000373215:p.Ser182Ile					CADPS_ENST00000490353.2_Missense_Mutation_p.S182I|CADPS_ENST00000283269.9_Missense_Mutation_p.S182I|CADPS_ENST00000357948.3_Missense_Mutation_p.S182I	p.S182I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	894	-		Lung SC(41;0.0452)	182					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.545G>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848571	0.91277	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.24	5.24	0.73138	.	0.083446	0.85682	D	0.000000	D	0.92639	0.7661	M	0.80183	2.485	0.80722	D	1	D;D;D	0.71674	0.996;0.994;0.998	D;D;D	0.78314	0.937;0.983;0.991	D	0.93407	0.6765	10	0.87932	D	0	.	17.9568	0.89072	0.0:1.0:0.0:0.0	.	182;182;182	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	I	182	ENSP00000373215:S182I;ENSP00000350632:S182I;ENSP00000283269:S182I;ENSP00000418736:S182I	ENSP00000283269:S182I	S	-	2	0	CADPS	62726596	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.462000	0.80851	2.602000	0.87976	0.655000	0.94253	AGT		0.522	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		4	66	1	0	0.00024832	1	0.0002712	4	66				
ZNF532	55205	broad.mit.edu	37	18	56586803	56586803	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586803C>T	ENST00000336078.4	+	4	2060	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	ZNF532_ENST00000591808.1_Silent_p.V428V|ZNF532_ENST00000591230.1_Silent_p.V428V|ZNF532_ENST00000591083.1_Silent_p.V428V|ZNF532_ENST00000589288.1_Silent_p.V428V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTCTGCGGTCGTGACCAATG	0.602																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1282-1284)gtC>gtT		zinc finger protein 532							36.0	32.0	34.0					18																	56586803		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586803C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1284C>T	18.37:g.56586803C>T						ZNF532_ENST00000591230.1_Silent_p.V428V|ZNF532_ENST00000589288.1_Silent_p.V428V|ZNF532_ENST00000591083.1_Silent_p.V428V|ZNF532_ENST00000591808.1_Silent_p.V428V	p.V428V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	2060	+			428					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.1284C>T	CCDS11969.1																																																																																				0.602	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		5	9	0	0	0	1	0	5	9				
FAT1	2195	broad.mit.edu	37	4	187539523	187539523	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187539523T>C	ENST00000441802.2	-	10	8426	c.8217A>G	c.(8215-8217)aaA>aaG	p.K2739K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2739	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGTATTCCCTTTGACCAGGC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8215-8217)aaA>aaG		FAT atypical cadherin 1							123.0	119.0	120.0					4																	187539523		1909	4123	6032	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539523T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8217A>G	4.37:g.187539523T>C		HNSCC(5;0.00058)					p.K2739K	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8426	-			2739			Cadherin 25.			Silent	SNP	ENST00000441802.2	37	c.8217A>G	CCDS47177.1																																																																																				0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		49	78	0	0	0	1	0	49	78				
PTPRS	5802	broad.mit.edu	37	19	5240339	5240339	+	Silent	SNP	C	C	T	rs375920633		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5240339C>T	ENST00000587303.1	-	11	1674	c.1575G>A	c.(1573-1575)ccG>ccA	p.P525P	PTPRS_ENST00000353284.2_Silent_p.P512P|PTPRS_ENST00000357368.4_Silent_p.P525P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.P521P|PTPRS_ENST00000372412.4_Silent_p.P526P|PTPRS_ENST00000588012.1_Silent_p.P512P|PTPRS_ENST00000592099.1_Silent_p.P512P|PTPRS_ENST00000348075.2_Silent_p.P512P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	525					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGGGCTGGCCCGGCACTGTGG	0.657																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1576-1578)ccG>ccA		protein tyrosine phosphatase, receptor type, S		G	,,,	2,4402		0,2,2200	15.0	17.0	16.0		1575,1536,1536,1548	-7.3	0.8	19		16	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	,,,	525/1949,512/1502,512/1911,516/1506	5240339	2,12996	2202	4297	6499	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5240339C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1575G>A	19.37:g.5240339C>T						PTPRS_ENST00000348075.2_Silent_p.P512P|PTPRS_ENST00000357368.4_Silent_p.P525P|PTPRS_ENST00000353284.2_Silent_p.P512P|PTPRS_ENST00000592099.1_Silent_p.P512P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.P512P|PTPRS_ENST00000587303.1_Silent_p.P525P|PTPRS_ENST00000262963.6_Silent_p.P521P	p.P526P			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	12	1811	-			525			Fibronectin type-III 3.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.1578G>A	CCDS45930.1																																																																																				0.657	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			4	13	0	0	0	1	0	4	13				
UBXN7	26043	broad.mit.edu	37	3	196089299	196089299	+	Missense_Mutation	SNP	G	G	A	rs200037192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196089299G>A	ENST00000296328.4	-	9	1168	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	UBXN7_ENST00000428095.1_Missense_Mutation_p.P203L|UBXN7_ENST00000535858.1_Missense_Mutation_p.P217L	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	365						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCAGTCAGCGGCCTTCTATT	0.483																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(1093-1095)cCg>cTg		UBX domain protein 7							102.0	94.0	97.0					3																	196089299		1875	4112	5987	SO:0001583	missense	26043						protein binding	g.chr3:196089299G>A	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1094C>T	3.37:g.196089299G>A	ENSP00000296328:p.Pro365Leu					UBXN7_ENST00000535858.1_Missense_Mutation_p.P217L|UBXN7_ENST00000428095.1_Missense_Mutation_p.P203L	p.P365L	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			9	1168	-			365					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.1094C>T	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498712	0.44455	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.79	4.92	0.64577	.	0.298002	0.37437	N	0.002097	T	0.39279	0.1072	N	0.14661	0.345	0.51233	D	0.999919	B	0.30211	0.273	B	0.17098	0.017	T	0.24404	-1.0161	9	0.38643	T	0.18	-0.1861	15.0506	0.71865	0.0683:0.0:0.9317:0.0	.	365	O94888	UBXN7_HUMAN	L	365;203;217	.	ENSP00000296328:P365L	P	-	2	0	UBXN7	197573696	1.000000	0.71417	0.625000	0.29200	0.850000	0.48378	4.667000	0.61561	1.450000	0.47717	0.563000	0.77884	CCG		0.483	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		36	59	0	0	0	1	0	36	59				
LARP1B	55132	broad.mit.edu	37	4	129012278	129012278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:129012278C>T	ENST00000326639.6	+	6	692	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LARP1B_ENST00000432347.2_Nonsense_Mutation_p.R161*|LARP1B_ENST00000394288.3_Nonsense_Mutation_p.R161*|LARP1B_ENST00000427266.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.R114*|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000512292.1_Nonsense_Mutation_p.R161*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	161	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGGAAGAGGACGAGGCAGAGG	0.408																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(481-483)Cga>Tga		La ribonucleoprotein domain family, member 1B							128.0	138.0	134.0					4																	129012278		2203	4300	6503	SO:0001587	stop_gained	55132						RNA binding	g.chr4:129012278C>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.481C>T	4.37:g.129012278C>T	ENSP00000321997:p.Arg161*					LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000427266.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000394288.3_Nonsense_Mutation_p.R161*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.R114*|LARP1B_ENST00000432347.2_Nonsense_Mutation_p.R161*|LARP1B_ENST00000512292.1_Nonsense_Mutation_p.R161*	p.R161*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			6	692	+			161			Arg-rich.		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Nonsense_Mutation	SNP	ENST00000326639.6	37	c.481C>T	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.580246|5.580246	0.96565|0.96565	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	.|.	.|.	.|.	3.93|3.93	3.93|3.93	0.45458|0.45458	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.71443	.|0.3340	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72067	.|-0.4402	.|4	0.02654|.	T|.	1|.	.|.	16.5241|16.5241	0.84326|0.84326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	161;161;114;161;161;114;161;161|129	.|.	ENSP00000264584:R114X|.	R|T	+|+	1|2	2|0	LARP1B|LARP1B	129231728|129231728	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	4.463000|4.463000	0.60128|0.60128	2.194000|2.194000	0.70268|0.70268	0.561000|0.561000	0.74099|0.74099	CGA|ACG		0.408	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		50	63	0	0	0	1	0	50	63				
COG2	22796	broad.mit.edu	37	1	230822730	230822730	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230822730C>A	ENST00000366669.4	+	13	1545	c.1430C>A	c.(1429-1431)cCt>cAt	p.P477H	COG2_ENST00000366668.3_Missense_Mutation_p.P477H|COG2_ENST00000535166.1_Missense_Mutation_p.P361H|COG2_ENST00000534989.1_Missense_Mutation_p.P418H|COG2_ENST00000546013.1_Missense_Mutation_p.P166H	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	477					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCAAGAAACCTTTGGTAACT	0.433																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1252-1254)cCt>cAt		component of oligomeric golgi complex 2							78.0	70.0	73.0					1																	230822730		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230822730C>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1430C>A	1.37:g.230822730C>A	ENSP00000355629:p.Pro477His					COG2_ENST00000535166.1_Missense_Mutation_p.P361H|COG2_ENST00000546013.1_Missense_Mutation_p.P166H|COG2_ENST00000366668.3_Missense_Mutation_p.P477H|COG2_ENST00000366669.4_Missense_Mutation_p.P477H	p.P418H			Q14746	COG2_HUMAN			13	1588	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	477					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1253C>A	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	5.996	0.367722	0.11352	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.45668	1.91;1.9;1.92;1.91;0.89	5.45	3.57	0.40892	.	0.482981	0.25180	N	0.032535	T	0.31358	0.0794	L	0.41824	1.3	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.002	T	0.15809	-1.0424	10	0.34782	T	0.22	-6.5092	9.0955	0.36636	0.0:0.7695:0.0:0.2305	.	477;477	Q86U99;Q14746	.;COG2_HUMAN	H	477;361;477;418;166	ENSP00000355629:P477H;ENSP00000445724:P361H;ENSP00000355628:P477H;ENSP00000440349:P418H;ENSP00000442147:P166H	ENSP00000355628:P477H	P	+	2	0	COG2	228889353	0.801000	0.28930	0.929000	0.37066	0.989000	0.77384	2.085000	0.41634	1.283000	0.44513	0.655000	0.94253	CCT		0.433	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		23	25	1	0	4.47668e-21	1	5.88546e-21	23	25				
NCOA4	8031	broad.mit.edu	37	10	51584762	51584762	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51584762G>T	ENST00000443446.1	+	8	1090	c.861G>T	c.(859-861)aaG>aaT	p.K287N	NCOA4_ENST00000344348.6_Missense_Mutation_p.K287N|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.K187N|NCOA4_ENST00000414907.2_Missense_Mutation_p.K121N|NCOA4_ENST00000374082.1_Missense_Mutation_p.K287N|NCOA4_ENST00000438493.1_Missense_Mutation_p.K303N|NCOA4_ENST00000374087.4_Missense_Mutation_p.K287N|NCOA4_ENST00000452682.1_Missense_Mutation_p.K303N	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	287					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AAATGGAAAAGGTTGGAGATC	0.433			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(907-909)aaG>aaT		nuclear receptor coactivator 4							89.0	90.0	90.0					10																	51584762		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584762G>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.861G>T	10.37:g.51584762G>T	ENSP00000390713:p.Lys287Asn					NCOA4_ENST00000443446.1_Missense_Mutation_p.K287N|NCOA4_ENST00000414907.2_Missense_Mutation_p.K121N|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.K303N|NCOA4_ENST00000344348.6_Missense_Mutation_p.K287N|NCOA4_ENST00000374082.1_Missense_Mutation_p.K287N|NCOA4_ENST00000430396.2_Missense_Mutation_p.K187N|NCOA4_ENST00000374087.4_Missense_Mutation_p.K287N	p.K303N	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1161	+			287					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.909G>T	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.48|10.48	1.361872|1.361872	0.24684|0.24684	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000431200|ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	.|T;T;T;T;T;T;T;T	.|0.35236	.|1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	6.03|6.03	-2.1|-2.1	0.07210|0.07210	.|.	.|0.250905	.|0.46758	.|D	.|0.000267	T|T	0.37128|0.37128	0.0992|0.0992	L|L	0.59436|0.59436	1.845|1.845	0.22305|0.22305	N|N	0.999218|0.999218	.|B;D;D;B	.|0.53619	.|0.056;0.961;0.961;0.018	.|B;P;P;B	.|0.55749	.|0.067;0.783;0.783;0.031	T|T	0.18713|0.18713	-1.0328|-1.0328	5|10	.|0.41790	.|T	.|0.15	-0.1635|-0.1635	2.9709|2.9709	0.05923|0.05923	0.44:0.1093:0.3396:0.1112|0.44:0.1093:0.3396:0.1112	.|.	.|187;303;303;287	.|B4DF87;B4E260;E9PAV7;Q13772	.|.;.;.;NCOA4_HUMAN	C|N	203|303;303;187;287;121;287;287;287	.|ENSP00000405146:K303N;ENSP00000395465:K303N;ENSP00000393053:K187N;ENSP00000363200:K287N;ENSP00000411018:K121N;ENSP00000344552:K287N;ENSP00000363195:K287N;ENSP00000390713:K287N	.|ENSP00000344552:K287N	G|K	+|+	1|3	0|2	NCOA4|NCOA4	51254768|51254768	0.164000|0.164000	0.22935|0.22935	0.061000|0.061000	0.19648|0.19648	0.185000|0.185000	0.23345|0.23345	0.348000|0.348000	0.20031|0.20031	-0.051000|-0.051000	0.13334|0.13334	-0.140000|-0.140000	0.14226|0.14226	GGT|AAG		0.433	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		8	125	1	0	3.09899e-07	1	3.63227e-07	8	125				
LCT	3938	broad.mit.edu	37	2	136555613	136555613	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136555613G>T	ENST00000264162.2	-	13	4972	c.4962C>A	c.(4960-4962)ggC>ggA	p.G1654G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1654	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ACTTGTTGAGGCCTGCAGCCA	0.562											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4960-4962)ggC>ggA		lactase							99.0	90.0	93.0					2																	136555613		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136555613G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4962C>A	2.37:g.136555613G>T			OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626		p.G1654G	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	13	4972	-			1654			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4962C>A	CCDS2178.1																																																																																				0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		20	32	1	0	5.26018e-13	1	6.65277e-13	20	32				
SLC13A4	26266	broad.mit.edu	37	7	135391027	135391027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135391027G>T	ENST00000354042.4	-	4	1076	c.387C>A	c.(385-387)tgC>tgA	p.C129*	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	129					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGTGGTACAGCACATGAAGC	0.632																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(385-387)tgC>tgA		solute carrier family 13 (sodium/sulfate symporter), member 4							122.0	96.0	105.0					7																	135391027		2203	4300	6503	SO:0001587	stop_gained	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135391027G>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.387C>A	7.37:g.135391027G>T	ENSP00000297282:p.Cys129*						p.C129*	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			4	1076	-			129					A4D1Q4|Q8N631	Nonsense_Mutation	SNP	ENST00000354042.4	37	c.387C>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	G	41	8.859797	0.98980	.	.	ENSG00000164707	ENST00000354042	.	.	.	5.56	3.74	0.42951	.	0.158551	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.5028	0.39028	0.0793:0.1434:0.7773:0.0	.	.	.	.	X	129	.	ENSP00000297282:C129X	C	-	3	2	SLC13A4	135041567	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	2.913000	0.48790	0.697000	0.31718	0.561000	0.74099	TGC		0.632	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		6	67	1	0	0.00116845	1	0.00124821	6	67				
CAMK2A	815	broad.mit.edu	37	5	149602646	149602646	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149602646C>T	ENST00000348628.6	-	17	2004	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.A458T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	447					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGACTGGGCGGTGCGTGGG	0.642																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1339-1341)Gcc>Acc		calcium/calmodulin-dependent protein kinase II alpha							64.0	74.0	71.0					5																	149602646		2201	4298	6499	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602646C>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1339G>A	5.37:g.149602646C>T	ENSP00000261793:p.Ala447Thr					CAMK2A_ENST00000398376.3_Missense_Mutation_p.A458T|CAMK2A_ENST00000351010.6_5'UTR	p.A447T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2004	-		all_hematologic(541;0.224)	447					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1339G>A	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844078	0.32606	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.43294	0.95;0.95	5.15	5.15	0.70609	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.64402	U	0.000001	T	0.24392	0.0591	N	0.05230	-0.09	0.45150	D	0.998166	B;B;B	0.12630	0.006;0.002;0.006	B;B;B	0.18263	0.004;0.021;0.004	T	0.10590	-1.0623	10	0.10377	T	0.69	.	18.6945	0.91596	0.0:1.0:0.0:0.0	.	447;458;447	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	T	447;458	ENSP00000261793:A447T;ENSP00000381412:A458T	ENSP00000261793:A447T	A	-	1	0	CAMK2A	149582839	0.395000	0.25254	0.992000	0.48379	0.929000	0.56500	1.077000	0.30741	2.419000	0.82065	0.555000	0.69702	GCC		0.642	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		24	33	0	0	0	1	0	24	33				
OTOA	146183	broad.mit.edu	37	16	21698948	21698948	+	Missense_Mutation	SNP	G	G	A	rs562057404		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21698948G>A	ENST00000286149.4	+	7	615	c.614G>A	c.(613-615)cGc>cAc	p.R205H	OTOA_ENST00000388956.4_Missense_Mutation_p.R126H|OTOA_ENST00000388958.3_Missense_Mutation_p.R205H			Q7RTW8	OTOAN_HUMAN	otoancorin	205					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CGGGACCTGCGCGAGGATGCC	0.542																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(613-615)cGc>cAc		otoancorin							31.0	30.0	30.0					16																	21698948		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698948G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.614G>A	16.37:g.21698948G>A	ENSP00000286149:p.Arg205His					OTOA_ENST00000286149.4_Missense_Mutation_p.R205H|OTOA_ENST00000388956.4_Missense_Mutation_p.R126H	p.R205H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	7	615	+			205					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.614G>A		.	.	.	.	.	.	.	.	.	.	G	4.174	0.030882	0.08101	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12984	2.63;2.63;2.63	4.36	1.53	0.23141	.	0.331976	0.25192	N	0.032444	T	0.06462	0.0166	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31668	-0.9935	10	0.24483	T	0.36	-0.245	2.9382	0.05822	0.4403:0.2371:0.3226:0.0	.	126;205	B3KWU3;E9PF51	.;.	H	205;205;126	ENSP00000373610:R205H;ENSP00000286149:R205H;ENSP00000373608:R126H	ENSP00000286149:R205H	R	+	2	0	OTOA	21606449	0.001000	0.12720	0.028000	0.17463	0.143000	0.21401	0.076000	0.14712	0.550000	0.28991	0.552000	0.68991	CGC		0.542	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			6	12	0	0	0	1	0	6	12				
OBSCN	84033	broad.mit.edu	37	1	228475655	228475655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228475655G>T	ENST00000422127.1	+	36	9849	c.9805G>T	c.(9805-9807)Gtg>Ttg	p.V3269L	OBSCN_ENST00000284548.11_Missense_Mutation_p.V3269L|OBSCN_ENST00000366709.4_Missense_Mutation_p.V388L|OBSCN_ENST00000570156.2_Missense_Mutation_p.V3698L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2116L|OBSCN_ENST00000366707.4_Missense_Mutation_p.V388L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3269					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCTCACAGTGACTGGTAA	0.602																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11092-11094)Gtg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							54.0	61.0	59.0					1																	228475655		2131	4241	6372	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475655G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9805G>T	1.37:g.228475655G>T	ENSP00000409493:p.Val3269Leu					OBSCN_ENST00000366707.4_Missense_Mutation_p.V388L|OBSCN_ENST00000366709.4_Missense_Mutation_p.V388L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3269L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2116L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3269L	p.V3698L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			41	11166	+		Prostate(94;0.0405)	2731			Ig-like 37.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11092G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.950740	0.73787	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.05	5.05	0.67936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.085063	0.47852	D	0.000210	D	0.92198	0.7526	H	0.99042	4.41	0.48341	D	0.999633	B;P	0.35944	0.012;0.529	B;P	0.51297	0.201;0.665	D	0.94215	0.7462	10	0.72032	D	0.01	.	18.0235	0.89262	0.0:0.0:1.0:0.0	.	3269;3269	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	3269;3269;388;388;2116	ENSP00000284548:V3269L;ENSP00000409493:V3269L;ENSP00000355668:V388L;ENSP00000355670:V388L;ENSP00000352613:V2116L	ENSP00000284548:V3269L	V	+	1	0	OBSCN	226542278	0.998000	0.40836	0.850000	0.33497	0.019000	0.09904	2.558000	0.45879	2.348000	0.79779	0.556000	0.70494	GTG		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		10	24	1	0	1.08611e-07	1	1.2824e-07	10	24				
MRPS31P5	100887750	broad.mit.edu	37	13	52742420	52742420	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52742420C>T	ENST00000451298.1	-	0	3219				MRPS31P5_ENST00000416599.1_RNA																							TCCTGCCTGGCGATCCCCAAG	0.473																																						ENST00000451298.1																			0																																																			0							g.chr13:52742420C>T																													13.37:g.52742420C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	3219	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.473	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			9	21	0	0	0	1	0	9	21				
GRK5	2869	broad.mit.edu	37	10	121182770	121182770	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121182770C>A	ENST00000392870.2	+	5	761	c.432C>A	c.(430-432)gcC>gcA	p.A144A	GRK5_ENST00000369108.3_Silent_p.A39A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	144	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTTTCTGCCTGTGCACAGT	0.582																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(430-432)gcC>gcA		G protein-coupled receptor kinase 5							207.0	189.0	195.0					10																	121182770		2203	4300	6503	SO:0001819	synonymous_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121182770C>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.432C>A	10.37:g.121182770C>A						GRK5_ENST00000369108.3_Silent_p.A39A	p.A144A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	5	761	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	144			N-terminal.|RGS.		D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	c.432C>A	CCDS7612.1																																																																																				0.582	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		50	58	1	0	9.87224e-16	1	1.26924e-15	50	58				
MPZL3	196264	broad.mit.edu	37	11	118111057	118111057	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118111057C>A	ENST00000278949.4	-	2	164	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	MPZL3_ENST00000527472.1_Splice_Site|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	37	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACATGGGCATCTGCACGAATC	0.388																																						ENST00000278949.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(109-111)Gat>Tat		myelin protein zero-like 3							164.0	138.0	147.0					11																	118111057		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118111057C>A	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.109G>T	11.37:g.118111057C>A	ENSP00000278949:p.Asp37Tyr					MPZL3_ENST00000527472.1_Splice_Site|MPZL3_ENST00000525386.1_Intron	p.D37Y			Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	164	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	37			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.109G>T	CCDS8392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.03|16.03	3.008170|3.008170	0.54361|0.54361	.|.	.|.	ENSG00000160588|ENSG00000160588	ENST00000527472|ENST00000278949	.|D	.|0.95588	.|-3.75	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.273360	.|0.37669	.|N	.|0.001995	.|D	.|0.92912	.|0.7745	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B	.|0.30563	.|0.285	.|B	.|0.38921	.|0.285	.|D	.|0.90084	.|0.4172	.|10	.|0.56958	.|D	.|0.05	.|.	7.1329|7.1329	0.25512|0.25512	0.1726:0.7382:0.0:0.0892|0.1726:0.7382:0.0:0.0892	.|.	.|37	.|Q6UWV2	.|MPZL3_HUMAN	.|Y	-1|37	.|ENSP00000278949:D37Y	.|ENSP00000278949:D37Y	.|D	-|-	.|1	.|0	MPZL3|MPZL3	117616267|117616267	0.870000|0.870000	0.30015|0.30015	0.975000|0.975000	0.42487|0.42487	0.830000|0.830000	0.47004|0.47004	1.662000|1.662000	0.37418|0.37418	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	.|GAT		0.388	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		36	49	1	0	2.38352e-08	1	2.85255e-08	36	49				
LILRB3	11025	broad.mit.edu	37	19	54723078	54723078	+	Missense_Mutation	SNP	G	G	A	rs202146775		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54723078G>A	ENST00000391750.1	-	9	1482	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	LILRB3_ENST00000424807.1_Missense_Mutation_p.S449L|LILRB3_ENST00000245620.9_Missense_Mutation_p.S449L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S461L|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.S449L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S449L|LILRA6_ENST00000419410.2_Missense_Mutation_p.S449L|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.S466L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	449					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGGCCACCGAGACCCCAAT	0.562													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17582	0.0		0.0	False		,,,				2504	0.0					ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1345-1347)tCg>tTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	236.0	164.0	189.0		1346,1346	0.6	0.0	19		189	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LILRB3	NM_001081450.1,NM_006864.2	145,145	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	449/633,449/632	54723078	3,13003	2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54723078G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1346C>T	19.37:g.54723078G>A	ENSP00000375630:p.Ser449Leu					LILRB3_ENST00000245620.9_Missense_Mutation_p.S449L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.S449L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S449L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S461L|LILRA6_ENST00000440558.2_Missense_Mutation_p.S449L|LILRB3_ENST00000407860.2_Missense_Mutation_p.S466L|LILRB3_ENST00000424807.1_Missense_Mutation_p.S449L|LILRB3_ENST00000469273.1_5'UTR	p.S449L			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1482	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		449					C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1346C>T	CCDS33105.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.806	0.517724	0.13005	2.27E-4	2.33E-4	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00543	6.97;6.97;6.78;6.97;6.68;6.95;6.96;7.03	2.71	0.553	0.17235	.	1972.010000	0.00166	N	0.000000	T	0.00524	0.0017	L	0.28556	0.865	0.09310	N	1	B;B;B;B;B;B;B	0.17667	0.002;0.021;0.008;0.004;0.019;0.023;0.005	B;B;B;B;B;B;B	0.15484	0.004;0.01;0.003;0.002;0.001;0.005;0.013	T	0.46693	-0.9173	10	0.44086	T	0.13	.	4.7754	0.13176	0.3048:0.0:0.6952:0.0	.	466;449;449;461;466;449;449	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	L	449;449;461;449;466;449;449;449	ENSP00000375630:S449L;ENSP00000412771:S449L;ENSP00000345184:S461L;ENSP00000245620:S449L;ENSP00000384274:S466L;ENSP00000390120:S449L;ENSP00000270464:S449L;ENSP00000411227:S449L	ENSP00000270464:S449L	S	-	2	0	LILRB3;LILRA6	59414890	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.301000	0.08232	0.251000	0.21505	0.447000	0.29281	TCG		0.562	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		5	9	0	0	0	1	0	5	9				
GUCY2C	2984	broad.mit.edu	37	12	14840925	14840925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14840925C>T	ENST00000261170.3	-	2	426	c.290G>A	c.(289-291)aGt>aAt	p.S97N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	97					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACAGGTGCTACTCCGGCAGTC	0.483																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(289-291)aGt>aAt		guanylate cyclase 2C (heat stable enterotoxin receptor)							100.0	95.0	97.0					12																	14840925		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14840925C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.290G>A	12.37:g.14840925C>T	ENSP00000261170:p.Ser97Asn					RP11-174G6.1_ENST00000501178.2_RNA	p.S97N	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			2	426	-			97					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.290G>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286065	0.80803	.	.	ENSG00000070019	ENST00000261170	T	0.74209	-0.82	5.48	4.53	0.55603	Extracellular ligand-binding receptor (1);	0.277484	0.40728	N	0.001039	D	0.83271	0.5218	M	0.72894	2.215	0.38585	D	0.950281	D	0.67145	0.996	D	0.70227	0.968	D	0.85275	0.1058	10	0.66056	D	0.02	.	11.7273	0.51716	0.0:0.8222:0.1778:0.0	.	97	P25092	GUC2C_HUMAN	N	97	ENSP00000261170:S97N	ENSP00000261170:S97N	S	-	2	0	GUCY2C	14732192	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.494000	0.35616	2.738000	0.93877	0.591000	0.81541	AGT		0.483	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			28	31	0	0	0	1	0	28	31				
SNX19	399979	broad.mit.edu	37	11	130784436	130784436	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784436C>A	ENST00000265909.4	-	1	1968	c.1399G>T	c.(1399-1401)Gct>Tct	p.A467S	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.A467S	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	467					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCAGCAAAGCTGTAACAGAG	0.537																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1399-1401)Gct>Tct		sorting nexin 19							104.0	100.0	102.0					11																	130784436		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784436C>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1399G>T	11.37:g.130784436C>A	ENSP00000265909:p.Ala467Ser					SNX19_ENST00000533214.1_Missense_Mutation_p.A467S|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	p.A467S	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1968	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	467					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1399G>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372425	0.24857	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.19105	2.17;2.17	5.1	0.347	0.16022	.	0.421128	0.23694	N	0.045483	T	0.10766	0.0263	N	0.24115	0.695	0.80722	D	1	B;B	0.29531	0.247;0.155	B;B	0.28139	0.086;0.048	T	0.17410	-1.0370	10	0.29301	T	0.29	-3.8296	5.5765	0.17227	0.1368:0.6066:0.0:0.2566	.	467;467	E9PKB9;Q92543	.;SNX19_HUMAN	S	467	ENSP00000265909:A467S;ENSP00000435390:A467S	ENSP00000265909:A467S	A	-	1	0	SNX19	130289646	0.000000	0.05858	0.392000	0.26245	0.507000	0.33981	-0.386000	0.07370	0.199000	0.20427	0.650000	0.86243	GCT		0.537	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		26	53	1	0	1.55811e-20	1	2.04583e-20	26	53				
NEFL	4747	broad.mit.edu	37	8	24811116	24811116	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24811116C>T	ENST00000221169.5	-	0	1957							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATGGTTTCCTCCACTTCGATC	0.582																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							67.0	70.0	69.0					8																	24811116		1982	4167	6149			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811116C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811116C>T										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1957	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.582	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		18	23	0	0	0	1	0	18	23				
SYTL2	54843	broad.mit.edu	37	11	85422207	85422207	+	Silent	SNP	C	C	T	rs369710130		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85422207C>T	ENST00000528231.1	-	11	2056	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	SYTL2_ENST00000525423.1_Silent_p.P915P|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Silent_p.P931P|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000525702.1_Silent_p.P35P|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389958.3_Silent_p.P24P|SYTL2_ENST00000529581.1_Silent_p.P35P|SYTL2_ENST00000316356.4_Silent_p.P594P|SYTL2_ENST00000527523.1_Silent_p.P561P|SYTL2_ENST00000359152.5_Silent_p.P1439P	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	593	Ser-rich.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTAAAGAGCTCGGGCTCTTCT	0.423																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(4315-4317)ccG>ccA		synaptotagmin-like 2		C	,,,,,,,,	0,4406		0,0,2203	165.0	167.0	166.0		1779,,1782,105,,2793,2745,105,72	-9.5	0.1	11		166	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYTL2	NM_001162951.1,NM_001162952.1,NM_001162953.1,NM_032379.3,NM_032943.3,NM_206927.2,NM_206928.2,NM_206929.2,NM_206930.2	,,,,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,	593/935,,594/936,35/377,,931/1273,915/1257,35/377,24/366	85422207	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85422207C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1779G>A	11.37:g.85422207C>T						SYTL2_ENST00000389958.3_Silent_p.P24P|SYTL2_ENST00000316356.4_Silent_p.P594P|SYTL2_ENST00000527523.1_Silent_p.P561P|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000529581.1_Silent_p.P35P|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000528231.1_Silent_p.P593P|SYTL2_ENST00000354566.3_Silent_p.P931P|SYTL2_ENST00000525423.1_Silent_p.P915P|SYTL2_ENST00000525702.1_Silent_p.P35P	p.P1439P	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	5	4316	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	593					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.4317G>A	CCDS53688.1																																																																																				0.423	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		64	95	0	0	0	1	0	64	95				
CUL3	8452	broad.mit.edu	37	2	225365132	225365132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225365132G>A	ENST00000264414.4	-	11	1896	c.1558C>T	c.(1558-1560)Cca>Tca	p.P520S	CUL3_ENST00000344951.4_Missense_Mutation_p.P454S|CUL3_ENST00000409777.1_Missense_Mutation_p.P496S|CUL3_ENST00000409096.1_Missense_Mutation_p.P496S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	520					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGCACTTTGGTGTGGCTGAC	0.428																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1558-1560)Cca>Tca		cullin 3							223.0	198.0	206.0					2																	225365132		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225365132G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1558C>T	2.37:g.225365132G>A	ENSP00000264414:p.Pro520Ser					CUL3_ENST00000409096.1_Missense_Mutation_p.P496S|CUL3_ENST00000344951.4_Missense_Mutation_p.P454S|CUL3_ENST00000409777.1_Missense_Mutation_p.P496S	p.P520S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	11	1896	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	520					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1558C>T	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419993	0.62622	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	6.03	6.03	0.97812	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	L	0.33093	0.98	0.80722	D	1	B;B;B	0.33807	0.259;0.426;0.243	B;B;B	0.35655	0.061;0.207;0.078	T	0.61936	-0.6960	10	0.13470	T	0.59	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	454;498;520	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	S	520;454;496;496	ENSP00000264414:P520S;ENSP00000343601:P454S;ENSP00000387200:P496S;ENSP00000386525:P496S	ENSP00000264414:P520S	P	-	1	0	CUL3	225073376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.854000	0.98071	0.655000	0.94253	CCA		0.428	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			44	78	0	0	0	1	0	44	78				
SOX6	55553	broad.mit.edu	37	11	16340160	16340160	+	Nonsense_Mutation	SNP	G	G	A	rs376018780		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16340160G>A	ENST00000352083.6	-	3	354	c.277C>T	c.(277-279)Cga>Tga	p.R93*	SOX6_ENST00000396356.3_Nonsense_Mutation_p.R93*|SOX6_ENST00000528252.1_Nonsense_Mutation_p.R93*|SOX6_ENST00000527619.1_Nonsense_Mutation_p.R96*|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000316399.6_Nonsense_Mutation_p.R93*|SOX6_ENST00000528429.1_Nonsense_Mutation_p.R93*			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	93					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAGGTATTTCGGAAGGAATAT	0.408																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(277-279)Cga>Tga		SRY (sex determining region Y)-box 6		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4400		0,0,2200	114.0	112.0	113.0		277,316,286,277	5.3	1.0	11		113	1,8587	1.2+/-3.3	0,1,4293	no	stop-gained,stop-gained,stop-gained,stop-gained	SOX6	NM_001145811.1,NM_001145819.1,NM_017508.2,NM_033326.3	,,,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	,,,	93/802,106/842,96/805,93/809	16340160	1,12987	2200	4294	6494	SO:0001587	stop_gained	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16340160G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.277C>T	11.37:g.16340160G>A	ENSP00000339876:p.Arg93*					SOX6_ENST00000396356.3_Nonsense_Mutation_p.R93*|SOX6_ENST00000527619.1_Nonsense_Mutation_p.R96*|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Nonsense_Mutation_p.R93*|SOX6_ENST00000528252.1_Nonsense_Mutation_p.R93*|SOX6_ENST00000316399.6_Nonsense_Mutation_p.R93*	p.R93*			P35712	SOX6_HUMAN			3	354	-			93					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Nonsense_Mutation	SNP	ENST00000352083.6	37	c.277C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.762723	0.96906	0.0	1.16E-4	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411;ENST00000526673	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2649	0.93982	0.0:0.0:1.0:0.0	.	.	.	.	X	93;93;93;93;96;93;93;93	.	ENSP00000324948:R93X	R	-	1	2	SOX6	16296736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.341000	0.97041	2.632000	0.89209	0.655000	0.94253	CGA		0.408	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		13	129	0	0	0	1	0	13	129				
DSG1	1828	broad.mit.edu	37	18	28935225	28935225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28935225C>T	ENST00000257192.4	+	15	3278	c.3066C>T	c.(3064-3066)caC>caT	p.H1022H	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Silent_p.H381H	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1022					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.H1022H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGACCATCACTTTAACCAAA	0.542																																						ENST00000257192.4																			1	Substitution - coding silent(1)	p.H1022H(1)	kidney(1)	NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3064-3066)caC>caT		desmoglein 1							89.0	82.0	84.0					18																	28935225		2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28935225C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.3066C>T	18.37:g.28935225C>T						RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.H381H	p.H1022H	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3278	+			1022					B7Z845	Silent	SNP	ENST00000257192.4	37	c.3066C>T	CCDS11896.1																																																																																				0.542	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		7	24	0	0	0	1	0	7	24				
PPIP5K2	23262	broad.mit.edu	37	5	102474096	102474096	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102474096T>A	ENST00000358359.3	+	5	919	c.410T>A	c.(409-411)gTa>gAa	p.V137E	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V137E|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.V137E|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	137					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAGAGAAGTATATAGTATT	0.308																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(409-411)gTa>gAa		diphosphoinositol pentakisphosphate kinase 2							80.0	79.0	80.0					5																	102474096		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102474096T>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.410T>A	5.37:g.102474096T>A	ENSP00000351126:p.Val137Glu					PPIP5K2_ENST00000358359.3_Missense_Mutation_p.V137E|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V137E|PPIP5K2_ENST00000513500.1_3'UTR	p.V137E			O43314	VIP2_HUMAN			5	983	+			137					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.410T>A		.	.	.	.	.	.	.	.	.	.	T	18.22	3.574860	0.65878	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T;T	0.27256	1.7;3.14;1.68;1.7	4.88	2.42	0.29668	.	0.090549	0.46145	D	0.000304	T	0.56016	0.1957	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	T	0.56269	-0.8007	10	0.87932	D	0	.	6.4205	0.21740	0.0:0.0813:0.1582:0.7605	.	59;137;137	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	E	137;59;137;137;137;67	ENSP00000313070:V137E;ENSP00000422525:V59E;ENSP00000351126:V137E;ENSP00000416016:V137E	ENSP00000313070:V137E	V	+	2	0	PPIP5K2	102501995	1.000000	0.71417	0.941000	0.38009	0.827000	0.46813	7.482000	0.81143	0.291000	0.22468	-0.446000	0.05623	GTA		0.308	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		5	53	0	0	0	1	0	5	53				
POTEH	23784	broad.mit.edu	37	22	16267028	16267028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267028G>A	ENST00000343518.6	-	9	1472	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTCAGCAGTGGCACCGTTAGT	0.408																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1420-1422)gCc>gTc		POTE ankyrin domain family, member H							547.0	445.0	476.0					22																	16267028		692	1591	2283	SO:0001583	missense	23784							g.chr22:16267028G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1421C>T	22.37:g.16267028G>A	ENSP00000340610:p.Ala474Val						p.A474V	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			9	1472	-			474					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1421C>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	G	4.691	0.128546	0.08981	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.26223	1.75	1.4	1.4	0.22301	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.12837	0.008;0.003	T	0.29671	-1.0004	9	0.21014	T	0.42	.	6.2468	0.20823	0.0:0.0:1.0:0.0	.	474;437	Q6S545;A6NKF6	POTEH_HUMAN;.	V	437;474	ENSP00000340610:A474V	ENSP00000340610:A474V	A	-	2	0	POTEH	14647028	0.000000	0.05858	0.093000	0.20910	0.065000	0.16274	-0.474000	0.06607	1.081000	0.41110	0.184000	0.17185	GCC		0.408	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		40	411	0	0	0	1	0	40	411				
MUC5B	727897	broad.mit.edu	37	11	1279402	1279402	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1279402G>A	ENST00000529681.1	+	42	16582	c.16524G>A	c.(16522-16524)gaG>gaA	p.E5508E	MUC5B_ENST00000447027.1_Silent_p.E5511E	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5508					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCCAGGAGGAGGGCGACT	0.697																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16531-16533)gaG>gaA		mucin 5B, oligomeric mucus/gel-forming							11.0	14.0	13.0					11																	1279402		1956	4106	6062	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1279402G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16524G>A	11.37:g.1279402G>A						MUC5B_ENST00000529681.1_Silent_p.E5508E	p.E5511E			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	42	16591	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5508					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.16533G>A	CCDS44515.2																																																																																				0.697	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	5	0	0	0	1	0	3	5				
AP3M1	26985	broad.mit.edu	37	10	75896428	75896428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896428G>T	ENST00000355264.4	-	3	718	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000372745.1_Missense_Mutation_p.P136Q	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	136					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AATTGTTGGTGGTTTAATCAA	0.328																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(406-408)cCa>cAa		adaptor-related protein complex 3, mu 1 subunit							151.0	146.0	148.0					10																	75896428		2202	4300	6502	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75896428G>T	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.407C>A	10.37:g.75896428G>T	ENSP00000347408:p.Pro136Gln					AP3M1_ENST00000372745.1_Missense_Mutation_p.P136Q	p.P136Q	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			3	718	-	Prostate(51;0.0112)		136					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.407C>A	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741633	0.89573	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.76316	-1.01;-1.01	5.94	5.94	0.96194	Longin-like (1);	0.000000	0.85682	D	0.000000	D	0.86377	0.5918	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.80279	-0.1449	10	0.05436	T	0.98	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	136	Q9Y2T2	AP3M1_HUMAN	Q	136	ENSP00000347408:P136Q;ENSP00000361831:P136Q	ENSP00000347408:P136Q	P	-	2	0	AP3M1	75566434	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.476000	0.97823	2.816000	0.96949	0.561000	0.74099	CCA		0.328	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			5	53	1	0	0.00116845	1	0.00124821	5	53				
ABCB7	22	broad.mit.edu	37	X	74282213	74282213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74282213C>A	ENST00000373394.3	-	14	1892	c.1885G>T	c.(1885-1887)Gtc>Ttc	p.V629F	ABCB7_ENST00000339447.4_Missense_Mutation_p.V589F|ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000253577.3_Missense_Mutation_p.V630F			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	629	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TAGAGTATGACTGGGGGGTCC	0.348																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1888-1890)Gtc>Ttc		ATP-binding cassette, sub-family B (MDR/TAP), member 7							99.0	88.0	92.0					X																	74282213		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74282213C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1885G>T	X.37:g.74282213C>A	ENSP00000362492:p.Val629Phe					ABCB7_ENST00000373394.3_Missense_Mutation_p.V629F|ABCB7_ENST00000339447.4_Missense_Mutation_p.V589F	p.V630F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			14	1912	-			629			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1888G>T		.	.	.	.	.	.	.	.	.	.	C	13.35	2.211459	0.39102	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.32	1.56	0.23342	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.325774	0.30311	N	0.009919	D	0.91476	0.7309	M	0.63208	1.945	0.42524	D	0.99301	B;B;B;B;B	0.18461	0.01;0.005;0.006;0.028;0.005	B;B;B;B;B	0.24974	0.021;0.02;0.057;0.057;0.034	D	0.86350	0.1710	10	0.54805	T	0.06	-28.6382	6.9966	0.24786	0.0:0.4489:0.0:0.5511	.	603;589;630;629;630	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	F	603;630;589;629;603	ENSP00000253577:V630F;ENSP00000343849:V589F;ENSP00000362492:V629F;ENSP00000436586:V603F	ENSP00000253577:V630F	V	-	1	0	ABCB7	74198938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.410000	0.34691	0.458000	0.26988	0.594000	0.82650	GTC		0.348	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		5	63	1	0	0.014758	1	0.0152625	5	63				
WEE2	494551	broad.mit.edu	37	7	141420793	141420793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141420793G>A	ENST00000397541.2	+	5	1223	c.817G>A	c.(817-819)Gta>Ata	p.V273I	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000486906.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCCCCATGTGGTACGTTACTA	0.408																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(817-819)Gta>Ata		WEE1 homolog 2 (S. pombe)							147.0	137.0	140.0					7																	141420793		1907	4118	6025	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420793G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.817G>A	7.37:g.141420793G>A	ENSP00000380675:p.Val273Ile					WEE2-AS1_ENST00000488785.1_RNA	p.V273I	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			5	1223	+	Melanoma(164;0.0171)		273			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.817G>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472809	0.96274	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.67171	0.58;-0.25	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000002	D	0.83972	0.5370	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.85914	0.1442	10	0.87932	D	0	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	273	P0C1S8	WEE2_HUMAN	I	273;48	ENSP00000380675:V273I;ENSP00000420388:V48I	ENSP00000380675:V273I	V	+	1	0	WEE2	141067262	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	7.596000	0.82721	2.607000	0.88179	0.655000	0.94253	GTA		0.408	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		89	77	0	0	0	1	0	89	77				
MUC5B	727897	broad.mit.edu	37	11	1272808	1272808	+	Missense_Mutation	SNP	G	G	A	rs200106435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1272808G>A	ENST00000529681.1	+	31	14756	c.14698G>A	c.(14698-14700)Gtg>Atg	p.V4900M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V4903M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4900	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCGTCCACCGTGGGGACCAC	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14707-14709)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming		C	MET/VAL	0,4310		0,0,2155	42.0	55.0	51.0		14698	-0.2	0.0	11		51	1,8477		0,1,4238	yes	missense	MUC5B	NM_002458.2	21	0,1,6393	AA,AG,GG		0.0118,0.0,0.0078	benign	4900/5763	1272808	1,12787	2155	4239	6394	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272808G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14698G>A	11.37:g.1272808G>A	ENSP00000436812:p.Val4900Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V4900M	p.V4903M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14765	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4900			Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14707G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023491	0.35701	0.0	1.18E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17213	2.29;2.48	1.92	-0.206	0.13193	.	.	.	.	.	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B;B	0.22146	0.065;0.036	B;B	0.08055	0.003;0.001	T	0.31530	-0.9940	9	0.87932	D	0	.	2.7098	0.05171	0.1834:0.5177:0.1793:0.1196	.	5222;4903	A7Y9J9;E9PBJ0	.;.	M	4900;4903;4844;4599	ENSP00000436812:V4900M;ENSP00000415793:V4903M	ENSP00000343037:V4844M	V	+	1	0	MUC5B	1229384	0.017000	0.18338	0.002000	0.10522	0.005000	0.04900	-0.011000	0.12721	-0.365000	0.08076	-0.332000	0.08345	GTG		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	18	0	0	0	1	0	9	18				
PCLO	27445	broad.mit.edu	37	7	82784980	82784980	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82784980G>T	ENST00000333891.9	-	2	1314	c.977C>A	c.(976-978)cCt>cAt	p.P326H	PCLO_ENST00000423517.2_Missense_Mutation_p.P326H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGCCCAGGCTGTGATTT	0.552																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(976-978)cCt>cAt		piccolo presynaptic cytomatrix protein							53.0	50.0	51.0					7																	82784980		1934	4139	6073	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784980G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.977C>A	7.37:g.82784980G>T	ENSP00000334319:p.Pro326His					PCLO_ENST00000333891.8_Missense_Mutation_p.P326H	p.P326H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1314	-			310			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.977C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	7.324	0.617653	0.14129	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17054	2.31;2.3	3.66	2.76	0.32466	.	.	.	.	.	T	0.17280	0.0415	L	0.50333	1.59	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.14023	0.01;0.01	T	0.06770	-1.0808	9	0.87932	D	0	.	11.4145	0.49943	0.0:0.0:0.8064:0.1936	.	326;326	Q9Y6V0-5;Q9Y6V0-6	.;.	H	326	ENSP00000334319:P326H;ENSP00000388393:P326H	ENSP00000334319:P326H	P	-	2	0	PCLO	82622916	0.000000	0.05858	0.991000	0.47740	0.975000	0.68041	0.528000	0.23002	1.085000	0.41206	0.655000	0.94253	CCT		0.552	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	38	1	0	4.68919e-08	1	5.58064e-08	10	38				
TMEM131	23505	broad.mit.edu	37	2	98375414	98375414	+	Missense_Mutation	SNP	G	G	A	rs202229445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375414G>A	ENST00000186436.5	-	40	5537	c.5309C>T	c.(5308-5310)gCg>gTg	p.A1770V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1770	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGGATCTGTCGCTGGCGACTC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16656	0.001		0.0	False		,,,				2504	0.0					ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5308-5310)gCg>gTg		transmembrane protein 131							48.0	56.0	53.0					2																	98375414		1998	4177	6175	SO:0001583	missense	23505					integral to membrane		g.chr2:98375414G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5309C>T	2.37:g.98375414G>A	ENSP00000186436:p.Ala1770Val						p.A1770V	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			40	5537	-			1770			Ser-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.5309C>T	CCDS46368.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.589	1.125670	0.20959	.	.	ENSG00000075568	ENST00000186436	T	0.35605	1.3	5.37	-1.05	0.10036	.	0.636627	0.17623	N	0.167664	T	0.19485	0.0468	N	0.24115	0.695	0.09310	N	0.999995	B;B	0.11235	0.004;0.003	B;B	0.08055	0.002;0.003	T	0.11767	-1.0574	10	0.42905	T	0.14	-0.0717	5.971	0.19353	0.3816:0.124:0.4944:0.0	.	1770;150	Q92545;Q0P631	TM131_HUMAN;.	V	1770	ENSP00000186436:A1770V	ENSP00000186436:A1770V	A	-	2	0	TMEM131	97741846	0.481000	0.25941	0.011000	0.14972	0.105000	0.19272	0.937000	0.28951	-0.176000	0.10707	-0.189000	0.12847	GCG		0.592	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		15	12	0	0	0	1	0	15	12				
TDRD7	23424	broad.mit.edu	37	9	100193223	100193223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100193223C>T	ENST00000355295.4	+	3	511	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TDRD7_ENST00000422139.2_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	72	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGATTACCTGCTATGCCATGG	0.448																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(214-216)tgC>tgT		tudor domain containing 7							126.0	130.0	128.0					9																	100193223		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100193223C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.216C>T	9.37:g.100193223C>T						TDRD7_ENST00000422139.2_5'UTR	p.C72C	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			3	511	+		Acute lymphoblastic leukemia(62;0.158)	72			Lotus/OST-HTH 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.216C>T	CCDS6725.1																																																																																				0.448	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		9	95	0	0	0	1	0	9	95				
HEATR5A	25938	broad.mit.edu	37	14	31858128	31858128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31858128C>A	ENST00000389961.3	-	6	837	c.838G>T	c.(838-840)Gga>Tga	p.G280*	HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.G286*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.G286*|HEATR5A_ENST00000439727.1_De_novo_Start_OutOfFrame|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.G280*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	280										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAAGGAATCCTGAACTCCCA	0.448																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(856-858)Gga>Tga		HEAT repeat containing 5A							120.0	106.0	111.0					14																	31858128		1887	4119	6006	SO:0001587	stop_gained	25938						binding	g.chr14:31858128C>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.838G>T	14.37:g.31858128C>A	ENSP00000374611:p.Gly280*					HEATR5A_ENST00000439727.1_De_novo_Start_OutOfFrame|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.G286*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.G280*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.G280*	p.G286*	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	7	1040	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		280					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37	c.856G>T		.	.	.	.	.	.	.	.	.	.	C	40	7.962129	0.98583	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000543095;ENST00000404677	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9144	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	280;280;286;286	.	ENSP00000374611:G280X	G	-	1	0	HEATR5A	30927879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.474000	0.81024	2.716000	0.92895	0.491000	0.48974	GGA		0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		6	54	1	0	0.0215528	1	0.0221649	6	54				
PUM1	9698	broad.mit.edu	37	1	31454233	31454233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31454233G>A	ENST00000257075.5	-	8	1271	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	PUM1_ENST00000440538.2_Missense_Mutation_p.A393V|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000373747.3_Missense_Mutation_p.A393V|PUM1_ENST00000423018.2_Missense_Mutation_p.A297V|PUM1_ENST00000373741.4_Missense_Mutation_p.A429V|PUM1_ENST00000373742.2_Missense_Mutation_p.A333V|PUM1_ENST00000426105.2_Missense_Mutation_p.A393V|PUM1_ENST00000424085.2_Missense_Mutation_p.A151V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	393	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GACAGCAAGCGCATTAGGTCT	0.463																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1177-1179)gCg>gTg		pumilio RNA-binding family member 1							64.0	59.0	61.0					1																	31454233		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31454233G>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1178C>T	1.37:g.31454233G>A	ENSP00000257075:p.Ala393Val					PUM1_ENST00000426105.2_Missense_Mutation_p.A393V|PUM1_ENST00000424085.2_Missense_Mutation_p.A151V|PUM1_ENST00000373741.4_Missense_Mutation_p.A429V|PUM1_ENST00000373742.2_Missense_Mutation_p.A333V|PUM1_ENST00000423018.2_Missense_Mutation_p.A297V|PUM1_ENST00000440538.2_Missense_Mutation_p.A393V|PUM1_ENST00000257075.5_Missense_Mutation_p.A393V	p.A393V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	8	1277	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	393			Ala-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1178C>T	CCDS338.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547633	0.86022	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.19394	2.15;2.17;2.44;2.43;2.39;2.42;2.36;2.18	5.44	5.44	0.79542	.	0.047862	0.85682	D	0.000000	T	0.23210	0.0561	L	0.47716	1.5	0.80722	D	1	D;P;D;D;P;P;P;P	0.60575	0.988;0.947;0.979;0.968;0.936;0.892;0.936;0.946	B;B;B;B;B;B;B;B	0.40741	0.194;0.183;0.194;0.339;0.121;0.121;0.121;0.306	T	0.02173	-1.1201	10	0.49607	T	0.09	-6.186	19.2697	0.94004	0.0:0.0:1.0:0.0	.	333;297;429;393;393;393;393;393	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	V	151;393;393;131;393;393;429;297;333;393	ENSP00000400141:A151V;ENSP00000257075:A393V;ENSP00000362852:A393V;ENSP00000391723:A393V;ENSP00000401777:A393V;ENSP00000362846:A429V;ENSP00000399440:A297V;ENSP00000362847:A333V	ENSP00000257075:A393V	A	-	2	0	PUM1	31226820	1.000000	0.71417	0.674000	0.29902	0.996000	0.88848	7.206000	0.77891	2.536000	0.85505	0.655000	0.94253	GCG		0.463	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			20	32	0	0	0	1	0	20	32				
SLC20A2	6575	broad.mit.edu	37	8	42329846	42329846	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329846G>T	ENST00000342228.3	-	2	432	c.63C>A	c.(61-63)gcC>gcA	p.A21A	SLC20A2_ENST00000520262.1_Silent_p.A21A|SLC20A2_ENST00000520179.1_Silent_p.A21A	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	21					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAACAGAAAAGGCCAAGATGA	0.463																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(61-63)gcC>gcA		solute carrier family 20 (phosphate transporter), member 2							98.0	85.0	89.0					8																	42329846		2203	4300	6503	SO:0001819	synonymous_variant	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42329846G>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.63C>A	8.37:g.42329846G>T						SLC20A2_ENST00000520262.1_Silent_p.A21A|SLC20A2_ENST00000520179.1_Silent_p.A21A	p.A21A	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	432	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	21						Silent	SNP	ENST00000342228.3	37	c.63C>A	CCDS6132.1																																																																																				0.463	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			5	87	1	0	0.000602214	1	0.000649039	5	87				
GHRHR	2692	broad.mit.edu	37	7	31009572	31009572	+	Missense_Mutation	SNP	C	C	T	rs138751215	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31009572C>T	ENST00000326139.2	+	4	405	c.359C>T	c.(358-360)gCt>gTt	p.A120V	GHRHR_ENST00000409904.3_Missense_Mutation_p.A56V|GHRHR_ENST00000409316.1_5'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	120					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	GAGCTGCTGGCTGAGGAGGTA	0.577																																						ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(166-168)gCt>gTt		growth hormone releasing hormone receptor	Sermorelin(DB00010)	C	VAL/ALA	0,4406		0,0,2203	116.0	98.0	104.0		359	1.3	0.1	7	dbSNP_134	104	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GHRHR	NM_000823.3	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	120/424	31009572	4,13002	2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31009572C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.359C>T	7.37:g.31009572C>T	ENSP00000320180:p.Ala120Val					GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.A120V	p.A56V			Q02643	GHRHR_HUMAN			1	425	+			120					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.167C>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026893	0.19512	0.0	4.65E-4	ENSG00000106128	ENST00000326139;ENST00000409904;ENST00000409233;ENST00000337750	T;T;T	0.65732	0.65;0.87;-0.17	4.17	1.28	0.21552	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.32041	0.0816	N	0.03000	-0.44	0.09310	N	1	B;B;B	0.25955	0.075;0.075;0.138	B;B;B	0.27500	0.08;0.05;0.065	T	0.20009	-1.0288	9	0.30854	T	0.27	.	3.5784	0.07943	0.1967:0.5892:0.0:0.2141	.	56;120;56	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	V	120;56;56;56	ENSP00000320180:A120V;ENSP00000387113:A56V;ENSP00000338184:A56V	ENSP00000320180:A120V	A	+	2	0	GHRHR	30976097	0.000000	0.05858	0.065000	0.19835	0.747000	0.42532	-0.261000	0.08694	0.148000	0.19059	0.462000	0.41574	GCT		0.577	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			8	99	0	0	0	1	0	8	99				
PDCL3	79031	broad.mit.edu	37	2	101185443	101185443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101185443G>A	ENST00000264254.6	+	3	562	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	62					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(184-186)Gag>Aag		phosducin-like 3							113.0	111.0	112.0					2																	101185443		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101185443G>A	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.184G>A	2.37:g.101185443G>A	ENSP00000264254:p.Glu62Lys						p.E62K	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			3	562	+			62					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.184G>A	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.084862	0.36758	.	.	ENSG00000115539	ENST00000264254;ENST00000416255	T	0.34275	1.37	4.87	3.99	0.46301	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.049522	0.85682	N	0.000000	T	0.60235	0.2253	M	0.91406	3.205	0.80722	D	1	D	0.71674	0.998	D	0.63283	0.913	T	0.67628	-0.5622	10	0.10111	T	0.7	-14.0308	13.4437	0.61127	0.0766:0.0:0.9234:0.0	.	62	Q9H2J4	PDCL3_HUMAN	K	62;12	ENSP00000264254:E62K	ENSP00000264254:E62K	E	+	1	0	PDCL3	100551875	1.000000	0.71417	0.918000	0.36340	0.059000	0.15707	9.640000	0.98453	1.177000	0.42855	-0.266000	0.10368	GAG		0.363	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		28	48	0	0	0	1	0	28	48				
ERC2	26059	broad.mit.edu	37	3	56183009	56183009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56183009G>A	ENST00000288221.6	-	5	1556	c.1301C>T	c.(1300-1302)aCc>aTc	p.T434I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	434						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCGTACCTTGGTCTTCATAAA	0.358																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(1300-1302)aCc>aTc		ELKS/RAB6-interacting/CAST family member 2							159.0	156.0	157.0					3																	56183009		1860	4093	5953	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56183009G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1301C>T	3.37:g.56183009G>A	ENSP00000288221:p.Thr434Ile						p.T434I	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	5	1556	-			434					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.1301C>T	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.97|14.97	2.693459|2.693459	0.48202|0.48202	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000492584|ENST00000288221	.|T	.|0.78003	.|-1.14	5.81|5.81	3.81|3.81	0.43845|0.43845	.|.	.|0.241923	.|0.48286	.|D	.|0.000185	T|T	0.64962|0.64962	0.2646|0.2646	L|L	0.29908|0.29908	0.895|0.895	0.33518|0.33518	D|D	0.592037|0.592037	.|B	.|0.14805	.|0.011	.|B	.|0.22152	.|0.038	T|T	0.67511|0.67511	-0.5652|-0.5652	5|10	.|0.41790	.|T	.|0.15	-4.1863|-4.1863	8.3067|8.3067	0.32047|0.32047	0.0:0.1126:0.4207:0.4666|0.0:0.1126:0.4207:0.4666	.|.	.|434	.|O15083	.|ERC2_HUMAN	S|I	73|434	.|ENSP00000288221:T434I	.|ENSP00000288221:T434I	P|T	-|-	1|2	0|0	ERC2|ERC2	56158049|56158049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.763000|2.763000	0.47605|0.47605	1.417000|1.417000	0.47077|0.47077	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.358	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		41	55	0	0	0	1	0	41	55				
ZNF318	24149	broad.mit.edu	37	6	43322515	43322515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43322515G>A	ENST00000361428.2	-	4	2634	c.2557C>T	c.(2557-2559)Cga>Tga	p.R853*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R853*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	853					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTGAGCCTCGCAGAGACTCT	0.488																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2557-2559)Cga>Tga		zinc finger protein 318							231.0	203.0	212.0					6																	43322515		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322515G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2557C>T	6.37:g.43322515G>A	ENSP00000354964:p.Arg853*					ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R853*	p.R853*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2634	-			853					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.2557C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	35	5.421382	0.96111	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.79	4.01	0.46588	.	0.446196	0.22597	N	0.058019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.9453	11.1938	0.48700	0.1445:0.0:0.8555:0.0	.	.	.	.	X	853	.	ENSP00000323032:R853X	R	-	1	2	ZNF318	43430493	0.375000	0.25089	0.161000	0.22692	0.396000	0.30629	1.716000	0.37981	1.451000	0.47736	0.655000	0.94253	CGA		0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		22	42	0	0	0	1	0	22	42				
WWC3	55841	broad.mit.edu	37	X	10098024	10098024	+	Missense_Mutation	SNP	G	G	A	rs377164888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10098024G>A	ENST00000380861.4	+	18	2852	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	WWC3_ENST00000454666.1_Missense_Mutation_p.G821S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	821					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						GGTGGATAGCGGCTGTAGCAA	0.577																																						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.(2461-2463)Ggc>Agc		WWC family member 3		G	SER/GLY	1,3834		0,1,1631,571	111.0	86.0	94.0		2461	5.9	1.0	X		94	0,6728		0,0,2428,1872	no	missense	WWC3	NM_015691.3	56	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	821/1093	10098024	1,10562	2203	4300	6503	SO:0001583	missense	55841							g.chrX:10098024G>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.2461G>A	X.37:g.10098024G>A	ENSP00000370242:p.Gly821Ser					WWC3_ENST00000454666.1_Missense_Mutation_p.G821S	p.G821S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			18	2852	+			821					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2461G>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155136	0.78114	2.61E-4	0.0	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.05319	3.46;3.46	5.87	5.87	0.94306	.	0.597051	0.18277	N	0.146137	T	0.09291	0.0229	L	0.51422	1.61	0.58432	D	0.999999	P	0.43542	0.81	B	0.37451	0.25	T	0.22977	-1.0201	9	.	.	.	-10.9851	19.2108	0.93753	0.0:0.0:1.0:0.0	.	821	Q9ULE0	WWC3_HUMAN	S	821;821;316	ENSP00000370242:G821S;ENSP00000399584:G821S	.	G	+	1	0	WWC3	10058024	1.000000	0.71417	0.997000	0.53966	0.851000	0.48451	8.684000	0.91242	2.488000	0.83962	0.600000	0.82982	GGC		0.577	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		36	53	0	0	0	1	0	36	53				
COL6A2	1292	broad.mit.edu	37	21	47549280	47549280	+	Intron	SNP	G	G	A	rs556565019		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549280G>A	ENST00000300527.4	+	28	2565				COL6A2_ENST00000357838.4_Missense_Mutation_p.A878T|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.A878T|COL6A2_ENST00000310645.5_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTCTACACCGCCGAGCGGGC	0.642																																						ENST00000357838.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2632-2634)Gcc>Acc		collagen, type VI, alpha 2							59.0	59.0	59.0					21																	47549280		2203	4300	6503	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549280G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2462-2588G>A	21.37:g.47549280G>A						COL6A2_ENST00000397763.1_Missense_Mutation_p.A878T|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron	p.A878T	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2714	+	Breast(49;0.245)		0			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2632G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888401	0.52014	.	.	ENSG00000142173	ENST00000357838;ENST00000397763	D;D	0.91068	-2.78;-2.78	4.26	4.26	0.50523	.	.	.	.	.	D	0.94666	0.8280	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94065	0.7330	8	0.35671	T	0.21	.	16.6741	0.85274	0.0:0.0:1.0:0.0	.	878	P12110-2	.	T	878	ENSP00000350497:A878T;ENSP00000380870:A878T	ENSP00000350497:A878T	A	+	1	0	COL6A2	46373708	1.000000	0.71417	0.381000	0.26106	0.819000	0.46315	9.187000	0.94912	1.916000	0.55485	0.467000	0.42956	GCC		0.642	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			27	42	0	0	0	1	0	27	42				
NUP98	4928	broad.mit.edu	37	11	3789871	3789871	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3789871C>A	ENST00000324932.7	-	8	1308	c.888G>T	c.(886-888)caG>caT	p.Q296H	NUP98_ENST00000359171.4_Missense_Mutation_p.Q296H|NUP98_ENST00000397004.4_Missense_Mutation_p.Q296H|NUP98_ENST00000355260.3_Missense_Mutation_p.Q296H|NUP98_ENST00000397007.4_Missense_Mutation_p.Q296H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	296	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGCCAGTGTTCTGGGTGGTTG	0.473			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(886-888)caG>caT		nucleoporin 98kDa							220.0	197.0	205.0					11																	3789871		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3789871C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.888G>T	11.37:g.3789871C>A	ENSP00000316032:p.Gln296His					NUP98_ENST00000397007.4_Missense_Mutation_p.Q296H|NUP98_ENST00000359171.4_Missense_Mutation_p.Q296H|NUP98_ENST00000397004.4_Missense_Mutation_p.Q296H|NUP98_ENST00000355260.3_Missense_Mutation_p.Q296H	p.Q296H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	8	1308	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	296			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.888G>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612653	0.46631	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.6	2.72	0.32119	.	0.272836	0.36972	N	0.002311	T	0.59059	0.2166	L	0.51422	1.61	0.41248	D	0.986691	P;P;P;P	0.48503	0.891;0.763;0.824;0.911	P;P;P;P	0.53102	0.568;0.549;0.643;0.718	T	0.54990	-0.8210	9	0.42905	T	0.14	.	8.5423	0.33399	0.0:0.7039:0.0:0.2961	.	296;296;296;296	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	H	296	.	ENSP00000316032:Q296H	Q	-	3	2	NUP98	3746447	0.992000	0.36948	0.988000	0.46212	0.971000	0.66376	0.364000	0.20325	0.321000	0.23259	-0.251000	0.11542	CAG		0.473	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		10	128	1	0	0.010729	1	0.0111717	10	128				
FAM214A	56204	broad.mit.edu	37	15	52901017	52901017	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52901017T>C	ENST00000261844.7	-	6	2246	c.2094A>G	c.(2092-2094)aaA>aaG	p.K698K	FAM214A_ENST00000546305.2_Silent_p.K705K	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	698																	TGCTTTCATATTTGTTCAAAT	0.294																																						ENST00000261844.7																			0											c.(2092-2094)aaA>aaG		family with sequence similarity 214, member A							106.0	96.0	99.0					15																	52901017		1807	4061	5868	SO:0001819	synonymous_variant	56204							g.chr15:52901017T>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2094A>G	15.37:g.52901017T>C						FAM214A_ENST00000546305.2_Silent_p.K705K	p.K698K	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2246	-			698					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.2094A>G	CCDS45263.1																																																																																				0.294	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		6	78	0	0	0	1	0	6	78				
SMG9	56006	broad.mit.edu	37	19	44251656	44251656	+	Missense_Mutation	SNP	G	G	A	rs534221014		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44251656G>A	ENST00000270066.6	-	5	868	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	SMG9_ENST00000601170.1_Missense_Mutation_p.R176C	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	176					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGCTTCATGCGCTCTGGGGGC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18817	0.0		0.0	False		,,,				2504	0.0					ENST00000601170.1																			0				kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						c.(526-528)Cgc>Tgc		SMG9 nonsense mediated mRNA decay factor							151.0	105.0	121.0					19																	44251656		2203	4300	6503	SO:0001583	missense	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44251656G>A	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.526C>T	19.37:g.44251656G>A	ENSP00000270066:p.Arg176Cys					SMG9_ENST00000270066.6_Missense_Mutation_p.R176C	p.R176C			Q9H0W8	SMG9_HUMAN			5	840	-			176					O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	c.526C>T	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086753	0.55861	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.3	4.27	0.50696	.	0.085679	0.48767	D	0.000170	T	0.25269	0.0614	N	0.14661	0.345	0.50313	D	0.999864	B;P	0.49559	0.01;0.925	B;B	0.37508	0.004;0.252	T	0.06770	-1.0808	9	0.59425	D	0.04	-13.692	6.5729	0.22549	0.091:0.0:0.7302:0.1788	.	176;176	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	C	176	.	ENSP00000270066:R176C	R	-	1	0	SMG9	48943496	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.936000	0.70153	1.251000	0.43983	0.655000	0.94253	CGC		0.572	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		10	17	0	0	0	1	0	10	17				
RAG1	5896	broad.mit.edu	37	11	36596598	36596598	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36596598A>G	ENST00000299440.5	+	2	1856	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	582					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGGCATGAGATCCCAAGA	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1744-1746)Aga>Gga		recombination activating gene 1							119.0	99.0	106.0					11																	36596598		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596598A>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1744A>G	11.37:g.36596598A>G	ENSP00000299440:p.Arg582Gly						p.R582G	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1856	+	all_lung(20;0.226)	all_hematologic(20;0.107)	582					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1744A>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	7.195	0.592377	0.13812	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86297	-2.1;-2.1	5.92	2.13	0.27403	.	0.221189	0.47093	D	0.000248	D	0.88115	0.6350	M	0.81112	2.525	0.43868	D	0.996471	B	0.26195	0.144	B	0.33121	0.158	D	0.84630	0.0689	10	0.87932	D	0	.	13.5091	0.61502	0.6548:0.3452:0.0:0.0	.	582	P15918	RAG1_HUMAN	G	582	ENSP00000434610:R582G;ENSP00000299440:R582G	ENSP00000299440:R582G	R	+	1	2	RAG1	36553174	1.000000	0.71417	0.158000	0.22627	0.253000	0.25986	5.911000	0.69939	0.104000	0.17725	0.524000	0.50904	AGA		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	45	0	0	0	1	0	4	45				
MGA	23269	broad.mit.edu	37	15	41988656	41988656	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41988656T>C	ENST00000570161.1	+	2	1448	c.1448T>C	c.(1447-1449)aTt>aCt	p.I483T	MGA_ENST00000566586.1_Missense_Mutation_p.I483T|MGA_ENST00000545763.1_Missense_Mutation_p.I483T|MGA_ENST00000219905.7_Missense_Mutation_p.I483T|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000389936.4_Missense_Mutation_p.I483T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGTTAAGATTTCTGAACTC	0.398																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1447-1449)aTt>aCt		MGA, MAX dimerization protein							77.0	73.0	75.0					15																	41988656		1843	4092	5935	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41988656T>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1448T>C	15.37:g.41988656T>C	ENSP00000457035:p.Ile483Thr					MGA_ENST00000389936.4_Missense_Mutation_p.I483T|MGA_ENST00000566586.1_Missense_Mutation_p.I483T|MGA_ENST00000570161.1_Missense_Mutation_p.I483T|MGA_ENST00000545763.1_Missense_Mutation_p.I483T|MGA_ENST00000568630.1_3'UTR	p.I483T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	1629	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	483					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.1448T>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.496324	0.44352	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.87179	-2.19;-2.22;-2.14	5.67	5.67	0.87782	.	0.493565	0.19211	N	0.119935	T	0.82075	0.4958	L	0.29908	0.895	0.33821	D	0.629042	B;B	0.31548	0.328;0.22	B;B	0.30495	0.116;0.054	D	0.86666	0.1907	10	0.87932	D	0	.	15.9137	0.79491	0.0:0.0:0.0:1.0	.	483;483	F5H7K2;E7ENI0	.;.	T	483	ENSP00000219905:I483T;ENSP00000374586:I483T;ENSP00000442467:I483T	ENSP00000219905:I483T	I	+	2	0	MGA	39775948	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.505000	0.66981	2.161000	0.67846	0.459000	0.35465	ATT		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		15	85	0	0	0	1	0	15	85				
TFDP3	51270	broad.mit.edu	37	X	132351436	132351436	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351436G>A	ENST00000310125.4	-	1	940	c.852C>T	c.(850-852)agC>agT	p.S284S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	284	DCB2. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTTCAAAGGAGCTGTTAAACT	0.478																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(850-852)agC>agT		transcription factor Dp family, member 3							100.0	102.0	101.0					X																	132351436		2195	4298	6493	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351436G>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.852C>T	X.37:g.132351436G>A							p.S284S	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	940	-	Acute lymphoblastic leukemia(192;0.000127)		284			DCB2 (By similarity).|Involved in negatively regulating E2F activity.		Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.852C>T	CCDS14636.2																																																																																				0.478	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		37	87	0	0	0	1	0	37	87				
TOR1AIP1	26092	broad.mit.edu	37	1	179887080	179887080	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887080A>G	ENST00000606911.2	+	10	1649	c.1458A>G	c.(1456-1458)gcA>gcG	p.A486A	TOR1AIP1_ENST00000528443.2_Silent_p.A487A|TOR1AIP1_ENST00000435319.4_Silent_p.A365A|TOR1AIP1_ENST00000271583.3_Silent_p.A502A			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	486	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CATTTCCCGCAGGCTCTACTT	0.443																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1456-1458)gcA>gcG		torsin A interacting protein 1							90.0	93.0	92.0					1																	179887080		2203	4300	6503	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179887080A>G		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1458A>G	1.37:g.179887080A>G						TOR1AIP1_ENST00000271583.3_Silent_p.A502A	p.A486A	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			10	1649	+			486					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.1458A>G	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	A	9.075	0.997939	0.19043	.	.	ENSG00000143337	ENST00000447964	.	.	.	5.96	-4.99	0.03010	.	.	.	.	.	T	0.37320	0.0999	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34551	-0.9824	4	.	.	.	-18.6137	1.6819	0.02833	0.2234:0.379:0.1232:0.2744	.	.	.	.	R	221	.	.	Q	+	2	0	TOR1AIP1	178153703	0.648000	0.27313	0.106000	0.21319	0.901000	0.52897	-0.081000	0.11321	-1.256000	0.02478	0.533000	0.62120	CAG		0.443	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		5	58	0	0	0	1	0	5	58				
FAM120A	23196	broad.mit.edu	37	9	96214350	96214350	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96214350C>T	ENST00000277165.6	+	1	347	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FAM120AOS_ENST00000423591.1_5'Flank|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000333936.5_Silent_p.D51D|FAM120A_ENST00000340893.4_Silent_p.D51D|FAM120A_ENST00000375389.3_Silent_p.D51D|FAM120AOS_ENST00000479094.1_5'Flank	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	51						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGACGCCGACAACTGCCTGC	0.731																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(151-153)gaC>gaT		family with sequence similarity 120A							6.0	7.0	7.0					9																	96214350		1982	3984	5966	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96214350C>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.153C>T	9.37:g.96214350C>T						FAM120A_ENST00000375389.3_Silent_p.D51D|FAM120A_ENST00000340893.4_Silent_p.D51D|FAM120A_ENST00000333936.5_Silent_p.D51D|FAM120AOS_ENST00000375412.5_Intron	p.D51D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			1	347	+			51					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.153C>T	CCDS6706.1																																																																																				0.731	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		4	1	0	0	0	1	0	4	1				
WTAP	9589	broad.mit.edu	37	6	160176228	160176228	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176228C>A	ENST00000358372.4	+	8	2533	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	259					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCTTCTGAACCTGTAGAACAG	0.557																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(775-777)cCt>cAt		Wilms tumor 1 associated protein							55.0	48.0	50.0					6																	160176228		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176228C>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.776C>A	6.37:g.160176228C>A	ENSP00000351141:p.Pro259His					SOD2_ENST00000546087.1_Intron	p.P259H	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2533	+		Breast(66;0.000776)|Ovarian(120;0.0303)	259					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.776C>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755867	0.49362	.	.	ENSG00000146457	ENST00000358372	T	0.28666	1.6	6.17	5.22	0.72569	.	0.151595	0.64402	D	0.000009	T	0.18299	0.0439	L	0.29908	0.895	0.80722	D	1	P;P	0.43169	0.739;0.8	P;B	0.45829	0.494;0.303	T	0.01879	-1.1255	10	0.44086	T	0.13	-8.2423	15.1437	0.72630	0.0:0.9283:0.0:0.0717	.	259;259	A8K489;Q15007	.;FL2D_HUMAN	H	259	ENSP00000351141:P259H	ENSP00000351141:P259H	P	+	2	0	WTAP	160096218	0.992000	0.36948	0.342000	0.25602	0.881000	0.50899	5.705000	0.68355	1.463000	0.47967	0.655000	0.94253	CCT		0.557	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		15	10	1	0	0.000219431	1	0.000240782	15	10				
ZNF69	7620	broad.mit.edu	37	19	12015652	12015652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015652G>A	ENST00000429654.2	+	4	580	c.440G>A	c.(439-441)gGt>gAt	p.G147D	ZNF69_ENST00000340180.5_Missense_Mutation_p.G133D			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AACATCAGAGGTGACATTGGA	0.413																																						ENST00000429654.2																			0				endometrium(1)|large_intestine(1)|skin(2)	4						c.(439-441)gGt>gAt		zinc finger protein 69							191.0	186.0	188.0					19																	12015652		2203	4300	6503	SO:0001583	missense	7620					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:12015652G>A	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.440G>A	19.37:g.12015652G>A	ENSP00000402985:p.Gly147Asp					ZNF69_ENST00000340180.5_Missense_Mutation_p.G133D	p.G147D			Q9UC07	ZNF69_HUMAN		Lung(535;0.011)	4	580	+			147					Q86VA7	Missense_Mutation	SNP	ENST00000429654.2	37	c.440G>A		.	.	.	.	.	.	.	.	.	.	g	7.119	0.577590	0.13686	.	.	ENSG00000198429	ENST00000429654;ENST00000445911;ENST00000340180	T;T;T	0.07908	3.15;4.35;4.42	1.05	-2.1	0.07210	.	.	.	.	.	T	0.03695	0.0105	N	0.11064	0.09	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.44636	-0.9315	9	0.26408	T	0.33	.	4.932	0.13921	0.0:0.4169:0.4255:0.1575	.	133	C9JR48	.	D	147;133;133	ENSP00000402985:G147D;ENSP00000388784:G133D;ENSP00000345333:G133D	ENSP00000345333:G133D	G	+	2	0	ZNF69	11876652	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-2.959000	0.00673	-0.489000	0.06716	-0.718000	0.03613	GGT		0.413	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		14	192	0	0	0	1	0	14	192				
KIRREL3	84623	broad.mit.edu	37	11	126301387	126301387	+	Silent	SNP	G	G	A	rs374724153		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126301387G>A	ENST00000525144.2	-	14	1872	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	KIRREL3_ENST00000529097.2_Silent_p.A529A|KIRREL3_ENST00000416561.2_Silent_p.A8A|KIRREL3_ENST00000525704.2_Silent_p.A541A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	541					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGCTCCTACGGCCACCCCAA	0.602																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1621-1623)gcC>gcT		kin of IRRE like 3 (Drosophila)		G	,	0,4346		0,0,2173	66.0	74.0	72.0		1623,1623	1.3	1.0	11		72	2,8504		0,2,4251	no	coding-synonymous,coding-synonymous	KIRREL3	NM_001161707.1,NM_032531.3	,	0,2,6424	AA,AG,GG		0.0235,0.0,0.0156	,	541/601,541/779	126301387	2,12850	2173	4253	6426	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126301387G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1623C>T	11.37:g.126301387G>A						KIRREL3_ENST00000416561.2_Silent_p.A8A|KIRREL3_ENST00000529097.2_Silent_p.A529A|KIRREL3_ENST00000525704.2_Silent_p.A541A	p.A541A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	14	1872	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	541					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1623C>T	CCDS53723.1																																																																																				0.602	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		17	16	0	0	0	1	0	17	16				
PRKRA	8575	broad.mit.edu	37	2	179308017	179308017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179308017C>T	ENST00000325748.4	-	5	691	c.491G>A	c.(490-492)aGg>aAg	p.R164K	PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000487082.1_Missense_Mutation_p.R139K|PRKRA_ENST00000438687.3_Missense_Mutation_p.R51K|PRKRA_ENST00000432031.2_Missense_Mutation_p.R153K	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	164	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGACTCTAGCCTGCAAATTGT	0.363																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(490-492)aGg>aAg		protein kinase, interferon-inducible double stranded RNA dependent activator							75.0	77.0	77.0					2																	179308017		2203	4300	6503	SO:0001583	missense	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179308017C>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.491G>A	2.37:g.179308017C>T	ENSP00000318176:p.Arg164Lys					PRKRA_ENST00000432031.2_Missense_Mutation_p.R153K|PRKRA_ENST00000487082.1_Missense_Mutation_p.R139K|PRKRA_ENST00000438687.3_Missense_Mutation_p.R51K	p.R164K	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		5	691	-			164			DRBM 2.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	c.491G>A	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766683	0.49574	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.65	3.86	0.44501	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.051019	0.85682	D	0.000000	T	0.57548	0.2061	N	0.17312	0.475	0.36435	D	0.865133	B;B	0.19935	0.04;0.0	B;B	0.28849	0.095;0.003	T	0.56141	-0.8028	10	0.19590	T	0.45	-16.2639	9.9042	0.41366	0.0:0.8419:0.0:0.1581	.	164;153	O75569;O75569-2	PRKRA_HUMAN;.	K	164;51;139;153	ENSP00000318176:R164K;ENSP00000398980:R51K;ENSP00000430604:R139K;ENSP00000393883:R153K	ENSP00000318176:R164K	R	-	2	0	PRKRA	179016263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.852000	0.48310	1.396000	0.46663	0.650000	0.86243	AGG		0.363	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		15	47	0	0	0	1	0	15	47				
MTCH2	23788	broad.mit.edu	37	11	47647241	47647241	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47647241G>T	ENST00000302503.3	-	11	891	c.734C>A	c.(733-735)gCt>gAt	p.A245D	MTCH2_ENST00000542981.1_Missense_Mutation_p.A97D|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	245					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTTGTTGACAGCCATAAGATT	0.403																																						ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(733-735)gCt>gAt		mitochondrial carrier 2							183.0	164.0	171.0					11																	47647241		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47647241G>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.734C>A	11.37:g.47647241G>T	ENSP00000303222:p.Ala245Asp					MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.A97D	p.A245D	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			11	891	-			245					B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.734C>A	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531935	0.85706	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	T;T;T	0.78595	-1.19;-1.19;-1.19	5.59	5.59	0.84812	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	M	0.88775	2.98	0.80722	D	1	D	0.62365	0.991	D	0.63703	0.917	D	0.88960	0.3393	10	0.41790	T	0.15	-9.1813	16.5628	0.84570	0.0:0.0:1.0:0.0	.	245	Q9Y6C9	MTCH2_HUMAN	D	245;97;236	ENSP00000303222:A245D;ENSP00000439013:A97D;ENSP00000432043:A236D	ENSP00000303222:A245D	A	-	2	0	MTCH2	47603817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.147000	0.77382	2.648000	0.89879	0.485000	0.47835	GCT		0.403	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		48	58	1	0	4.25531e-23	1	5.6291e-23	48	58				
SALL4	57167	broad.mit.edu	37	20	50401032	50401032	+	Silent	SNP	G	G	A	rs369618385		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50401032G>A	ENST00000217086.4	-	4	3045	c.2934C>T	c.(2932-2934)ggC>ggT	p.G978G	SALL4_ENST00000371539.3_Silent_p.G201G|SALL4_ENST00000395997.3_Silent_p.G541G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	978					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCCAGACCGCCATTGAGCA	0.542																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2932-2934)ggC>ggT		spalt-like transcription factor 4		G		0,4406		0,0,2203	100.0	89.0	93.0		2934	-9.6	0.2	20		93	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SALL4	NM_020436.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		978/1054	50401032	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401032G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2934C>T	20.37:g.50401032G>A						SALL4_ENST00000395997.3_Silent_p.G541G|SALL4_ENST00000371539.3_Silent_p.G201G	p.G978G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3045	-			978					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.2934C>T	CCDS13438.1																																																																																				0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			27	63	0	0	0	1	0	27	63				
CACNA1S	779	broad.mit.edu	37	1	201029852	201029852	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201029852G>T	ENST00000362061.3	-	26	3574	c.3348C>A	c.(3346-3348)acC>acA	p.T1116T	CACNA1S_ENST00000367338.3_Silent_p.T1116T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1116					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTAGGAGGAGGTGACAATGT	0.517																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3346-3348)acC>acA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						281.0	268.0	273.0					1																	201029852		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029852G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3348C>A	1.37:g.201029852G>T						CACNA1S_ENST00000367338.3_Silent_p.T1116T	p.T1116T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			26	3574	-			1116					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3348C>A	CCDS1407.1																																																																																				0.517	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		86	193	1	0	5.2429e-30	1	7.02103e-30	86	193				
CEP95	90799	broad.mit.edu	37	17	62504835	62504835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62504835C>T	ENST00000556440.2	+	2	655	c.145C>T	c.(145-147)Cca>Tca	p.P49S	CEP95_ENST00000553412.1_5'UTR|DDX5_ENST00000450599.2_5'Flank|DDX5_ENST00000225792.5_5'Flank|DDX5_ENST00000578804.1_5'Flank|CEP95_ENST00000581056.1_Missense_Mutation_p.P49S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	49						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAAAAGGTACCAGGTAAGAA	0.294																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(145-147)Cca>Tca		centrosomal protein 95kDa							109.0	107.0	108.0					17																	62504835		1816	4075	5891	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62504835C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.145C>T	17.37:g.62504835C>T	ENSP00000450461:p.Pro49Ser					CEP95_ENST00000581056.1_Missense_Mutation_p.P49S|CEP95_ENST00000553412.1_5'UTR	p.P49S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			2	655	+			49					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.145C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607883	0.87258	.	.	ENSG00000258890	ENST00000553956;ENST00000556440	D;D	0.85556	-2.0;-2.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92957	0.6385	10	0.87932	D	0	-11.3702	19.4153	0.94694	0.0:1.0:0.0:0.0	.	49	Q96GE4	CEP95_HUMAN	S	49	ENSP00000452317:P49S;ENSP00000450461:P49S	ENSP00000438458:P49S	P	+	1	0	CEP95	59935297	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.927000	0.75840	2.595000	0.87683	0.561000	0.74099	CCA		0.294	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		31	84	0	0	0	1	0	31	84				
LRIG3	121227	broad.mit.edu	37	12	59276728	59276728	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59276728A>G	ENST00000320743.3	-	12	1689	c.1403T>C	c.(1402-1404)gTa>gCa	p.V468A	LRIG3_ENST00000379141.4_Missense_Mutation_p.V408A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	468	LRRCT.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGGCATTTACAAAGCTCTG	0.453			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1402-1404)gTa>gCa		leucine-rich repeats and immunoglobulin-like domains 3							89.0	82.0	84.0					12																	59276728		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59276728A>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1403T>C	12.37:g.59276728A>G	ENSP00000326759:p.Val468Ala					LRIG3_ENST00000379141.4_Missense_Mutation_p.V408A	p.V468A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		12	1689	-			468			LRRCT.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1403T>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.186311	0.57909	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.60299	0.22;0.2	6.08	6.08	0.98989	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.33610	N	0.004721	T	0.51024	0.1650	L	0.52364	1.645	0.58432	D	0.999996	B;P	0.34562	0.024;0.457	B;B	0.28709	0.093;0.089	T	0.48681	-0.9014	9	.	.	.	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	408;468	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	A	408;468	ENSP00000368436:V408A;ENSP00000326759:V468A	.	V	-	2	0	LRIG3	57562995	1.000000	0.71417	0.819000	0.32651	0.756000	0.42949	9.262000	0.95591	2.333000	0.79357	0.533000	0.62120	GTA		0.453	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		6	66	0	0	0	1	0	6	66				
SOS1	6654	broad.mit.edu	37	2	39224152	39224152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39224152C>A	ENST00000426016.1	-	20	3078	c.2992G>T	c.(2992-2994)Gga>Tga	p.G998*	SOS1_ENST00000402219.2_Nonsense_Mutation_p.G998*|SOS1_ENST00000395038.2_Nonsense_Mutation_p.G998*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	998	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGCTATTTCCCATCGGATTC	0.299									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(2992-2994)Gga>Tga		son of sevenless homolog 1 (Drosophila)							68.0	70.0	69.0					2																	39224152		2203	4300	6503	SO:0001587	stop_gained	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39224152C>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2992G>T	2.37:g.39224152C>A	ENSP00000387784:p.Gly998*					SOS1_ENST00000395038.2_Nonsense_Mutation_p.G998*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.G998*	p.G998*			Q07889	SOS1_HUMAN			20	3078	-		all_hematologic(82;0.21)	998			Ras-GEF.		A8K2G3|B4DXG2	Nonsense_Mutation	SNP	ENST00000426016.1	37	c.2992G>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	40	7.942440	0.98574	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	.	.	.	5.42	5.42	0.78866	.	0.332030	0.31697	N	0.007203	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.222	0.93801	0.0:1.0:0.0:0.0	.	.	.	.	X	998;998;730;998;998	.	ENSP00000263879:G998X	G	-	1	0	SOS1	39077656	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.330000	0.79181	2.532000	0.85374	0.467000	0.42956	GGA		0.299	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		14	28	1	0	0.000219431	1	0.000240782	14	28				
OR8H2	390151	broad.mit.edu	37	11	55873189	55873189	+	Missense_Mutation	SNP	C	C	T	rs138370909		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55873189C>T	ENST00000313503.1	+	1	671	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T224I(1)|p.T224M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTCTCTTTACCATCCTGAAA	0.388										HNSCC(53;0.14)			c|||	1	0.000199681	0.0008	0.0	5008	,	,		20782	0.0		0.0	False		,,,				2504	0.0					ENST00000313503.1																			2	Substitution - Missense(2)	p.T224I(1)|p.T224M(1)	lung(2)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(670-672)aCc>aTc		olfactory receptor, family 8, subfamily H, member 2		C	ILE/THR	2,4400	4.2+/-10.8	0,2,2199	142.0	133.0	136.0		671	2.4	0.0	11	dbSNP_134	136	0,8592		0,0,4296	no	missense	OR8H2	NM_001005200.1	89	0,2,6495	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	224/313	55873189	2,12992	2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873189C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.671C>T	11.37:g.55873189C>T	ENSP00000323982:p.Thr224Ile	HNSCC(53;0.14)					p.T224I	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	671	+	Esophageal squamous(21;0.00693)		224					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.671C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	2.673	-0.277139	0.05679	4.54E-4	0.0	ENSG00000181767	ENST00000313503	T	0.00193	8.58	3.35	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.116946	0.39341	N	0.001399	T	0.00241	0.0007	M	0.69185	2.1	0.09310	N	1	B	0.30664	0.289	B	0.37451	0.25	T	0.20140	-1.0284	10	0.87932	D	0	.	9.2476	0.37536	0.1618:0.681:0.1572:0.0	.	224	Q8N162	OR8H2_HUMAN	I	224	ENSP00000323982:T224I	ENSP00000323982:T224I	T	+	2	0	OR8H2	55629765	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	0.626000	0.24492	0.684000	0.31448	0.440000	0.28878	ACC		0.388	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		41	90	0	0	0	1	0	41	90				
SUSD1	64420	broad.mit.edu	37	9	114886614	114886614	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114886614A>C	ENST00000374270.3	-	6	981	c.809T>G	c.(808-810)tTt>tGt	p.F270C	SUSD1_ENST00000374263.3_Missense_Mutation_p.F270C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F270C|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	270	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGGCTCTCAAAGCCCTCTTG	0.522																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(808-810)tTt>tGt		sushi domain containing 1							113.0	111.0	112.0					9																	114886614		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114886614A>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.809T>G	9.37:g.114886614A>C	ENSP00000363388:p.Phe270Cys					SUSD1_ENST00000374264.2_Missense_Mutation_p.F270C|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.F270C	p.F270C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			6	981	-			270			Sushi 2.		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.809T>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.208753|4.208753	0.79240|0.79240	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000415074	T;T;T|.	0.69806|.	-0.43;-0.43;-0.43|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.48286|.	D|.	0.000187|.	T|T	0.80352|0.80352	0.4607|0.4607	M|M	0.90542|0.90542	3.125|3.125	0.36808|0.36808	D|D	0.88574|0.88574	D;D;D|.	0.76494|.	0.997;0.999;0.999|.	P;P;D|.	0.64144|.	0.81;0.905;0.922|.	D|D	0.86768|0.86768	0.1971|0.1971	10|5	0.87932|.	D|.	0|.	-18.0326|-18.0326	12.8256|12.8256	0.57718|0.57718	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	270;270;270|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|V	270|84	ENSP00000363388:F270C;ENSP00000363381:F270C;ENSP00000363382:F270C|.	ENSP00000363381:F270C|.	F|L	-|-	2|1	0|2	SUSD1|SUSD1	113926435|113926435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.520000|5.520000	0.67080|0.67080	2.270000|2.270000	0.75569|0.75569	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.522	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		37	63	0	0	0	1	0	37	63				
PNPLA1	285848	broad.mit.edu	37	6	36270205	36270205	+	Missense_Mutation	SNP	C	C	A	rs141744967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36270205C>A	ENST00000394571.2	+	6	1343	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D	PNPLA1_ENST00000388715.3_Missense_Mutation_p.A353D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.A362D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	448	Pro-rich.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCCTTCCCTGCTCAGCCACCT	0.582											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(1342-1344)gCt>gAt		patatin-like phospholipase domain containing 1							122.0	127.0	125.0					6																	36270205		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36270205C>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1343C>A	6.37:g.36270205C>A	ENSP00000378072:p.Ala448Asp		OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000312917.5_Missense_Mutation_p.A362D|PNPLA1_ENST00000388715.3_Missense_Mutation_p.A353D	p.A448D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	1343	+			448			Pro-rich.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.1343C>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909829	0.52439	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.42513	1.33;1.32;0.97;0.97	5.4	1.38	0.22167	.	1.043690	0.07634	N	0.929198	T	0.19805	0.0476	L	0.36672	1.1	0.09310	N	1	P;P	0.50066	0.886;0.931	B;P	0.47430	0.345;0.547	T	0.13388	-1.0511	10	0.66056	D	0.02	-1.1777	4.5825	0.12266	0.3007:0.53:0.0:0.1693	.	448;362	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	D	353;362;449;448	ENSP00000373367:A353D;ENSP00000321116:A362D;ENSP00000391868:A449D;ENSP00000378072:A448D	ENSP00000321116:A362D	A	+	2	0	PNPLA1	36378183	0.000000	0.05858	0.020000	0.16555	0.006000	0.05464	0.739000	0.26173	0.207000	0.20607	-0.156000	0.13503	GCT		0.582	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		60	68	1	0	5.62145e-24	1	7.45113e-24	60	68				
LYST	1130	broad.mit.edu	37	1	235973133	235973133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235973133G>A	ENST00000389794.3	-	5	1159	c.985C>T	c.(985-987)Cga>Tga	p.R329*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R329*|LYST_ENST00000536965.1_Nonsense_Mutation_p.R329*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	329					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R329R(1)|p.R329*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACACTGTTCGAAAGAGCATC	0.438																																						ENST00000389794.3																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.R329R(1)|p.R329*(1)	large_intestine(1)|lung(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(985-987)Cga>Tga		lysosomal trafficking regulator							46.0	44.0	45.0					1																	235973133		2203	4300	6503	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973133G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.985C>T	1.37:g.235973133G>A	ENSP00000374444:p.Arg329*					LYST_ENST00000389793.2_Nonsense_Mutation_p.R329*|LYST_ENST00000536965.1_Nonsense_Mutation_p.R329*	p.R329*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1159	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	329					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.985C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	39	7.905411	0.98554	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.49	2.35	0.29111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3614	0.38197	0.0679:0.0:0.5627:0.3693	.	.	.	.	X	329	.	ENSP00000374443:R329X	R	-	1	2	LYST	234039756	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.688000	0.54699	0.747000	0.32809	0.655000	0.94253	CGA		0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			18	17	0	0	0	1	0	18	17				
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(1390-1392)Ctg>Atg		RNA binding motif protein 42							110.0	109.0	109.0					19																	36128403		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36128403C>A	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1390C>A	19.37:g.36128403C>A	ENSP00000262633:p.Leu464Met					RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M	p.L464M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		10	1495	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		464			Necessary for interaction with HNRNPK (By similarity).		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.1390C>A	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262941	0.39995	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06528	3.29;3.34	6.07	5.04	0.67666	.	0.171732	0.48767	D	0.000162	T	0.06872	0.0175	L	0.28014	0.82	0.47341	D	0.999399	P;B;P;B	0.44659	0.56;0.22;0.84;0.141	B;B;P;B	0.48304	0.437;0.101;0.573;0.047	T	0.30179	-0.9987	10	0.31617	T	0.26	-10.995	7.2472	0.26129	0.1696:0.7478:0.0:0.0826	.	430;435;434;464	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	M	464;435	ENSP00000262633:L464M;ENSP00000353663:L435M	ENSP00000262633:L464M	L	+	1	2	RBM42	40820243	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.934000	0.40163	2.885000	0.99019	0.655000	0.94253	CTG		0.617	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		15	25	1	0	3.27435e-08	1	3.90559e-08	15	25				
N6AMT1	29104	broad.mit.edu	37	21	30248787	30248787	+	Missense_Mutation	SNP	T	T	C	rs376008564		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30248787T>C	ENST00000303775.5	-	6	590	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	N6AMT1_ENST00000351429.3_Missense_Mutation_p.K161E	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	189					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TGCAGACCTTTTGTCTTCATT	0.363																																						ENST00000303775.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.(565-567)Aaa>Gaa		N-6 adenine-specific DNA methyltransferase 1 (putative)		T	GLU/LYS,GLU/LYS	0,4406		0,0,2203	139.0	123.0	129.0		565,481	0.9	0.0	21		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	N6AMT1	NM_013240.3,NM_182749.2	56,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	189/215,161/187	30248787	1,13005	2203	4300	6503	SO:0001583	missense	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30248787T>C	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.565A>G	21.37:g.30248787T>C	ENSP00000303584:p.Lys189Glu					N6AMT1_ENST00000351429.3_Missense_Mutation_p.K161E	p.K189E	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN			6	590	-			189					Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	c.565A>G	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385368	0.25031	0.0	1.16E-4	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.16897	2.58;2.31	4.93	0.92	0.19397	.	0.956121	0.08802	N	0.891611	T	0.09379	0.0231	N	0.20574	0.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38585	-0.9654	10	0.27082	T	0.32	-7.9287	3.5056	0.07689	0.3758:0.0994:0.0:0.5247	.	161;189	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	E	189;161	ENSP00000303584:K189E;ENSP00000286764:K161E	ENSP00000303584:K189E	K	-	1	0	N6AMT1	29170658	0.084000	0.21492	0.026000	0.17262	0.963000	0.63663	0.165000	0.16564	0.361000	0.24292	0.383000	0.25322	AAA		0.363	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		5	109	0	0	0	1	0	5	109				
NAA15	80155	broad.mit.edu	37	4	140275240	140275240	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140275240T>C	ENST00000296543.5	+	10	1398	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	NAA15_ENST00000398947.1_Missense_Mutation_p.F359L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	359					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGCCGGTTATTTAACCCCAA	0.308																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1075-1077)Ttt>Ctt		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							144.0	130.0	134.0					4																	140275240		1799	4064	5863	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140275240T>C	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1075T>C	4.37:g.140275240T>C	ENSP00000296543:p.Phe359Leu					NAA15_ENST00000398947.1_Missense_Mutation_p.F359L	p.F359L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			10	1398	+			359					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.1075T>C	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877403	0.72294	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.40476	1.03;1.03	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	L	0.35723	1.085	0.80722	D	1	B	0.18741	0.03	B	0.29353	0.101	T	0.13818	-1.0495	10	0.23302	T	0.38	-18.3027	15.9595	0.79918	0.0:0.0:0.0:1.0	.	359	Q9BXJ9	NAA15_HUMAN	L	359;233;359	ENSP00000296543:F359L;ENSP00000381920:F359L	ENSP00000296543:F359L	F	+	1	0	NAA15	140494690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.171000	0.68590	0.477000	0.44152	TTT		0.308	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		11	93	0	0	0	1	0	11	93				
GCC2	9648	broad.mit.edu	37	2	109086935	109086935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109086935G>T	ENST00000309863.6	+	6	1864	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	384					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E384Q(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGAAGACTTAGAGTTTAAAAT	0.284																																						ENST00000309863.6																			1	Substitution - Missense(1)	p.E384Q(1)	lung(1)	breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1150-1152)Gag>Tag		GRIP and coiled-coil domain containing 2							50.0	56.0	54.0					2																	109086935		2069	4242	6311	SO:0001587	stop_gained	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086935G>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1150G>T	2.37:g.109086935G>T	ENSP00000307939:p.Glu384*						p.E384*	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	1864	+			384					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	c.1150G>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	41	9.095670	0.99064	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.93	5.93	0.95920	.	0.062472	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	X	384;384;347;129	.	ENSP00000307939:E384X	E	+	1	0	GCC2	108453367	1.000000	0.71417	0.974000	0.42286	0.660000	0.38997	8.358000	0.90090	2.805000	0.96524	0.655000	0.94253	GAG		0.284	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		34	46	1	0	7.11191e-15	1	9.09819e-15	34	46				
CROCC	9696	broad.mit.edu	37	1	17292335	17292335	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17292335G>A	ENST00000375541.5	+	28	4592	c.4523G>A	c.(4522-4524)cGc>cAc	p.R1508H		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGGCAGTGCGCGGGGCCCTC	0.667																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(4522-4524)cGc>cAc		ciliary rootlet coiled-coil, rootletin							27.0	30.0	29.0					1																	17292335		2202	4295	6497	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17292335G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4523G>A	1.37:g.17292335G>A	ENSP00000364691:p.Arg1508His						p.R1508H	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	28	4592	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1508						Missense_Mutation	SNP	ENST00000375541.5	37	c.4523G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649768	0.47362	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.60797	0.16	4.27	3.35	0.38373	.	.	.	.	.	T	0.70133	0.3189	M	0.78049	2.395	0.46774	D	0.999195	D;D	0.64830	0.994;0.974	P;P	0.61132	0.884;0.669	T	0.71020	-0.4713	9	0.52906	T	0.07	.	9.8509	0.41057	0.1037:0.0:0.8963:0.0	.	811;1508	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	H	1508;1389	ENSP00000364691:R1508H	ENSP00000364691:R1508H	R	+	2	0	CROCC	17164922	1.000000	0.71417	0.135000	0.22099	0.096000	0.18686	3.997000	0.57016	0.909000	0.36697	0.579000	0.79373	CGC		0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	42	0	0	0	1	0	5	42				
ZNF83	55769	broad.mit.edu	37	19	53117236	53117236	+	Missense_Mutation	SNP	T	T	G	rs144975187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53117236T>G	ENST00000597597.1	-	2	2835	c.582A>C	c.(580-582)caA>caC	p.Q194H	ZNF83_ENST00000301096.3_Missense_Mutation_p.Q194H|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q194H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Missense_Mutation_p.Q194H			P51522	ZNF83_HUMAN	zinc finger protein 83	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTCTTTGATGTTGTGCAAGGT	0.378																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(580-582)caA>caC		zinc finger protein 83		T	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	0,4406		0,0,2203	68.0	68.0	68.0		582,582,582,582,582,582,582,582,582	-3.4	0.0	19	dbSNP_134	68	3,8597		0,3,4297	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	ZNF83	NM_001105549.1,NM_001105550.1,NM_001105551.1,NM_001105552.1,NM_001105553.1,NM_001105554.1,NM_001242531.1,NM_001242538.1,NM_018300.3	24,24,24,24,24,24,24,24,24	0,3,6500	GG,GT,TT		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	194/517,194/517,194/517,194/517,194/489,194/489,194/489,194/489,194/517	53117236	3,13003	2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117236T>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.582A>C	19.37:g.53117236T>G	ENSP00000472619:p.Gln194His					ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q194H|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000391789.4_Missense_Mutation_p.Q194H|ZNF83_ENST00000301096.3_Missense_Mutation_p.Q194H|ZNF83_ENST00000545872.1_Missense_Mutation_p.Q194H	p.Q194H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2835	-			194					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.582A>C	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	3.497	-0.102587	0.06967	0.0	3.49E-4	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	1.7	-3.41	0.04839	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15522	0.0374	N	0.21448	0.665	0.09310	N	1	P;D	0.64830	0.869;0.994	B;P	0.59595	0.294;0.86	T	0.08066	-1.0740	9	0.42905	T	0.14	.	0.7015	0.00908	0.4008:0.1192:0.266:0.2139	.	194;194	P51522-2;P51522	.;ZNF83_HUMAN	H	194	ENSP00000445993:Q194H;ENSP00000301096:Q194H;ENSP00000445470:Q194H;ENSP00000440713:Q194H;ENSP00000439681:Q194H;ENSP00000375666:Q194H	ENSP00000301096:Q194H	Q	-	3	2	ZNF83	57809048	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-9.149000	0.00013	-2.704000	0.00397	0.383000	0.25322	CAA		0.378	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		19	34	0	0	0	1	0	19	34				
KHNYN	23351	broad.mit.edu	37	14	24901675	24901675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24901675G>A	ENST00000251343.5	+	3	1347	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.G403D|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.G403D			O15037	KHNYN_HUMAN	KH and NYN domain containing	403							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGAAACGAGGCGCCCGAGGG	0.657											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(1207-1209)gGc>gAc		KH and NYN domain containing							18.0	20.0	19.0					14																	24901675		2198	4294	6492	SO:0001583	missense	23351							g.chr14:24901675G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1208G>A	14.37:g.24901675G>A	ENSP00000251343:p.Gly403Asp		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000553935.1_Missense_Mutation_p.G403D|KHNYN_ENST00000556842.1_Missense_Mutation_p.G403D	p.G403D			O15037	KHNYN_HUMAN			3	1347	+			403					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.1208G>A	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936280	0.34189	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.25912	1.77;1.77;1.77	4.94	4.94	0.65067	.	1.171210	0.05847	N	0.620509	T	0.30823	0.0777	N	0.14661	0.345	0.51233	D	0.999917	P;D	0.59357	0.925;0.985	P;P	0.53035	0.526;0.716	T	0.09751	-1.0660	10	0.38643	T	0.18	.	15.7019	0.77549	0.0:0.0:1.0:0.0	.	444;403	D3DS77;O15037	.;KHNYN_HUMAN	D	403	ENSP00000251343:G403D;ENSP00000451106:G403D;ENSP00000450799:G403D	ENSP00000251343:G403D	G	+	2	0	KHNYN	23971515	1.000000	0.71417	0.789000	0.31954	0.264000	0.26372	3.343000	0.52167	2.568000	0.86640	0.462000	0.41574	GGC		0.657	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			11	15	0	0	0	1	0	11	15				
MUC16	94025	broad.mit.edu	37	19	9066667	9066667	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066667T>C	ENST00000397910.4	-	3	20982	c.20779A>G	c.(20779-20781)Act>Gct	p.T6927A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6929	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAACAGTTGTATGCCCC	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20779-20781)Act>Gct		mucin 16, cell surface associated							293.0	274.0	280.0					19																	9066667		2024	4184	6208	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066667T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20779A>G	19.37:g.9066667T>C	ENSP00000381008:p.Thr6927Ala						p.T6927A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20982	-			6929			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20779A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.516	0.095810	0.08681	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	2.74	1.68	0.24146	.	.	.	.	.	T	0.14917	0.0360	L	0.32530	0.975	.	.	.	B	0.18166	0.026	B	0.19148	0.024	T	0.13229	-1.0517	8	0.87932	D	0	.	5.847	0.18671	0.0:0.0:0.2751:0.7249	.	6927	B5ME49	.	A	6927	ENSP00000381008:T6927A	ENSP00000381008:T6927A	T	-	1	0	MUC16	8927667	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.187000	0.01250	0.431000	0.26258	-0.846000	0.03041	ACT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		125	167	0	0	0	1	0	125	167				
FAM63B	54629	broad.mit.edu	37	15	59102556	59102556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59102556C>A	ENST00000559228.1	+	4	1173	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	FAM63B_ENST00000450403.2_Missense_Mutation_p.P364H			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	364										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTGATATTCCTTTGTACCAT	0.343																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1090-1092)cCt>cAt		family with sequence similarity 63, member B							134.0	130.0	132.0					15																	59102556		1831	4084	5915	SO:0001583	missense	54629							g.chr15:59102556C>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1091C>A	15.37:g.59102556C>A	ENSP00000452885:p.Pro364His					FAM63B_ENST00000450403.2_Missense_Mutation_p.P364H	p.P364H			Q8NBR6	FA63B_HUMAN			4	1173	+			364					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1091C>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970273	0.92855	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.55588	0.51	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	M	0.80183	2.485	0.80722	D	1	P;P	0.46859	0.885;0.729	P;P	0.55011	0.766;0.537	T	0.74884	-0.3512	10	0.72032	D	0.01	-7.8296	19.5615	0.95374	0.0:1.0:0.0:0.0	.	364;364	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	H	364	ENSP00000393231:P364H	ENSP00000326194:P364H	P	+	2	0	FAM63B	56889848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.600000	0.87896	0.591000	0.81541	CCT		0.343	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		6	47	1	0	0.0215528	1	0.0221649	6	47				
SLIT1	6585	broad.mit.edu	37	10	98824578	98824578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824578G>A	ENST00000266058.4	-	6	786	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	SLIT1_ENST00000371041.3_Missense_Mutation_p.R181W|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R181W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	181					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAGCCCCCGCAGAGCACGG	0.582																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(541-543)Cgg>Tgg		slit homolog 1 (Drosophila)							166.0	152.0	157.0					10																	98824578		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98824578G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.541C>T	10.37:g.98824578G>A	ENSP00000266058:p.Arg181Trp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.R181W|SLIT1_ENST00000371070.4_Missense_Mutation_p.R181W	p.R181W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	6	786	-		Colorectal(252;0.162)	181					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.541C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740234	0.69304	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.57	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	L	0.55103	1.725	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.68819	-0.5308	10	0.87932	D	0	.	12.1433	0.54010	0.0:0.0:0.6892:0.3108	.	181;181	E7EWQ8;O75093	.;SLIT1_HUMAN	W	181;181;157;181;164;157;181	ENSP00000266058:R181W;ENSP00000360109:R181W;ENSP00000315005:R164W;ENSP00000360080:R181W	ENSP00000266058:R181W	R	-	1	2	SLIT1	98814568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.385000	0.52485	1.238000	0.43771	0.491000	0.48974	CGG		0.582	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		39	84	0	0	0	1	0	39	84				
TBC1D28	254272	broad.mit.edu	37	17	18539872	18539872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18539872G>A	ENST00000345096.4	-	9	1235	c.536C>T	c.(535-537)gCa>gTa	p.A179V	TBC1D28_ENST00000405044.1_Missense_Mutation_p.A179V			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	179	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGGGTTATATGCAGAATAGGC	0.463																																						ENST00000345096.4																			0				breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						c.(535-537)gCa>gTa		TBC1 domain family, member 28							144.0	137.0	139.0					17																	18539872		1863	4115	5978	SO:0001583	missense	254272					intracellular	Rab GTPase activator activity	g.chr17:18539872G>A		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.536C>T	17.37:g.18539872G>A	ENSP00000339973:p.Ala179Val					TBC1D28_ENST00000405044.1_Missense_Mutation_p.A179V	p.A179V			Q2M2D7	TBC28_HUMAN			9	1235	-			179			Rab-GAP TBC.		Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	c.536C>T	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	0.163	-1.079076	0.01903	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.03831	3.79;3.79	0.583	-0.534	0.11883	Rab-GAP/TBC domain (2);	0.156711	0.41605	N	0.000850	T	0.03959	0.0111	N	0.20807	0.61	0.09310	N	1	D	0.55605	0.972	P	0.54312	0.748	T	0.21177	-1.0253	9	0.02654	T	1	.	.	.	.	.	179	Q2M2D7	TBC28_HUMAN	V	179	ENSP00000339973:A179V;ENSP00000385821:A179V	ENSP00000339973:A179V	A	-	2	0	TBC1D28	18480597	0.821000	0.29204	0.002000	0.10522	0.023000	0.10783	0.134000	0.15932	-0.223000	0.09943	0.449000	0.29647	GCA		0.463	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		13	102	0	0	0	1	0	13	102				
DAPK3	1613	broad.mit.edu	37	19	3964909	3964909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964909C>T	ENST00000545797.2	-	3	386	c.143G>A	c.(142-144)cGc>cAc	p.R48H	DAPK3_ENST00000301264.3_Missense_Mutation_p.R48H			O43293	DAPK3_HUMAN	death-associated protein kinase 3	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGACAGGCGGCGCTTCTT	0.652																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(142-144)cGc>cAc		death-associated protein kinase 3							73.0	76.0	75.0					19																	3964909		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964909C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.143G>A	19.37:g.3964909C>T	ENSP00000442973:p.Arg48His					DAPK3_ENST00000301264.3_Missense_Mutation_p.R48H	p.R48H			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	386	-		Hepatocellular(1079;0.137)	48			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.143G>A	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831781	0.91036	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.65916	-0.18;-0.18	5.7	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	L	0.37630	1.12	0.58432	D	0.999999	P	0.40032	0.699	B	0.34138	0.176	T	0.56956	-0.7893	10	0.72032	D	0.01	.	13.7728	0.63036	0.0:0.9261:0.0:0.0739	.	48	O43293	DAPK3_HUMAN	H	48	ENSP00000301264:R48H;ENSP00000442973:R48H	ENSP00000301264:R48H	R	-	2	0	DAPK3	3915909	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	3.170000	0.50816	1.412000	0.46977	0.561000	0.74099	CGC		0.652	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		13	35	0	0	0	1	0	13	35				
TGFBRAP1	9392	broad.mit.edu	37	2	105924676	105924676	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924676T>A	ENST00000393359.2	-	2	509	c.83A>T	c.(82-84)gAg>gTg	p.E28V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E28V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	28	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCACGCACTCTATGTTGAC	0.597																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(82-84)gAg>gTg		transforming growth factor, beta receptor associated protein 1							48.0	46.0	47.0					2																	105924676		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924676T>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.83A>T	2.37:g.105924676T>A	ENSP00000377027:p.Glu28Val					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E28V	p.E28V			Q8WUH2	TGFA1_HUMAN			2	509	-			28			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.83A>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022123	0.54576	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.50001	0.76;0.76	4.82	3.63	0.41609	Citron-like (1);	0.049552	0.85682	D	0.000000	T	0.50051	0.1593	M	0.74881	2.28	0.80722	D	1	B	0.28512	0.214	B	0.34038	0.174	T	0.50415	-0.8831	10	0.44086	T	0.13	-25.0516	11.8396	0.52346	0.0:0.0:0.1467:0.8532	.	28	Q8WUH2	TGFA1_HUMAN	V	28	ENSP00000377027:E28V;ENSP00000258449:E28V	ENSP00000258449:E28V	E	-	2	0	TGFBRAP1	105291108	1.000000	0.71417	0.861000	0.33841	0.299000	0.27559	4.810000	0.62598	0.935000	0.37341	0.533000	0.62120	GAG		0.597	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	36	0	0	0	1	0	4	36				
SLC43A3	29015	broad.mit.edu	37	11	57182424	57182424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57182424C>T	ENST00000395123.2	-	10	1229	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	SLC43A3_ENST00000533524.1_Missense_Mutation_p.G322S|SLC43A3_ENST00000529554.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Missense_Mutation_p.G309S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	309					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGTCCCCACCGGCCATGTTG	0.592																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(925-927)Ggt>Agt		solute carrier family 43, member 3							105.0	91.0	96.0					11																	57182424		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182424C>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.925G>A	11.37:g.57182424C>T	ENSP00000378555:p.Gly309Ser					SLC43A3_ENST00000529554.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000395124.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000533524.1_Missense_Mutation_p.G322S|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G309S	p.G309S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			10	1229	-			309					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.925G>A	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	C	3.224	-0.158901	0.06544	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	D;D;D;D;D;T	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-0.54	4.85	-9.7	0.00521	Major facilitator superfamily domain, general substrate transporter (1);	2.527070	0.00855	N	0.001871	T	0.72358	0.3450	N	0.17082	0.46	0.09310	N	1	B;B;B	0.15719	0.014;0.001;0.003	B;B;B	0.13407	0.009;0.002;0.003	T	0.59289	-0.7482	10	0.17369	T	0.5	9.376	8.3163	0.32102	0.0:0.3998:0.3363:0.2639	.	322;309;309	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	S	309;309;309;309;322;309	ENSP00000378555:G309S;ENSP00000378556:G309S;ENSP00000337561:G309S;ENSP00000436254:G309S;ENSP00000434515:G322S;ENSP00000435893:G309S	ENSP00000337561:G309S	G	-	1	0	SLC43A3	56939000	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.005000	0.00315	-1.113000	0.02981	-1.129000	0.01985	GGT		0.592	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		12	57	0	0	0	1	0	12	57				
F8	2157	broad.mit.edu	37	X	154158779	154158779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154158779C>T	ENST00000360256.4	-	14	3486	c.3286G>A	c.(3286-3288)Gtc>Atc	p.V1096I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1096	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTGTTGGACCATTTCCATG	0.378																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(3286-3288)Gtc>Atc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						88.0	80.0	83.0					X																	154158779		2203	4299	6502	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158779C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3286G>A	X.37:g.154158779C>T	ENSP00000353393:p.Val1096Ile						p.V1096I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3486	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1096			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.3286G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	0.084	-1.178947	0.01633	.	.	ENSG00000185010	ENST00000360256	D	0.99098	-5.42	5.58	1.56	0.23342	.	1.974330	0.02024	N	0.047996	D	0.95626	0.8578	N	0.17674	0.51	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	D	0.92309	0.5856	10	0.07325	T	0.83	1.6374	3.9057	0.09182	0.1647:0.5417:0.0:0.2936	.	1096	P00451	FA8_HUMAN	I	1096	ENSP00000353393:V1096I	ENSP00000353393:V1096I	V	-	1	0	F8	153811973	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.152000	0.10159	-0.110000	0.12022	0.597000	0.82753	GTC		0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			43	53	0	0	0	1	0	43	53				
ITGB4	3691	broad.mit.edu	37	17	73748345	73748345	+	Missense_Mutation	SNP	G	G	A	rs200586694		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73748345G>A	ENST00000200181.3	+	31	4071	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	ITGB4_ENST00000339591.3_Missense_Mutation_p.R1295H|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1295H|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1295H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1295H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1295	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCTACCGCTACACGGTG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18000	0.0		0.0	False		,,,				2504	0.0					ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3883-3885)cGc>cAc		integrin, beta 4							100.0	99.0	99.0					17																	73748345		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73748345G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3884G>A	17.37:g.73748345G>A	ENSP00000200181:p.Arg1295His					ITGB4_ENST00000450894.3_Missense_Mutation_p.R1295H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1295H|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1295H|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1295H	p.R1295H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		31	4071	+	all_cancers(13;1.5e-07)		1295			Fibronectin type-III 2.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3884G>A	CCDS11727.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.42	2.828287	0.50845	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.57595	0.39;0.39;0.39	4.93	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.147135	0.47093	D	0.000254	T	0.71221	0.3314	M	0.69248	2.105	0.80722	D	1	P;D;D	0.89917	0.909;0.998;1.0	P;D;D	0.71656	0.557;0.962;0.974	T	0.75342	-0.3351	10	0.87932	D	0	.	18.1427	0.89644	0.0:0.0:1.0:0.0	.	1295;1295;1295	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1295	ENSP00000200181:R1295H;ENSP00000344079:R1295H;ENSP00000400217:R1295H	ENSP00000200181:R1295H	R	+	2	0	ITGB4	71259940	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	4.473000	0.60196	2.265000	0.75225	0.561000	0.74099	CGC		0.622	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			6	120	0	0	0	1	0	6	120				
KCNH2	3757	broad.mit.edu	37	7	150656821	150656821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150656821C>A	ENST00000262186.5	-	3	712	c.311G>T	c.(310-312)aGc>aTc	p.S104I	KCNH2_ENST00000430723.3_Missense_Mutation_p.S104I|KCNH2_ENST00000392968.2_Missense_Mutation_p.S8I	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	104	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TAGGAAGCAGCTCCCTGCAGA	0.582																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(22-24)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						135.0	103.0	114.0					7																	150656821		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656821C>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.311G>T	7.37:g.150656821C>A	ENSP00000262186:p.Ser104Ile					KCNH2_ENST00000262186.5_Missense_Mutation_p.S104I|KCNH2_ENST00000430723.3_Missense_Mutation_p.S104I	p.S8I			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1143	-	all_neural(206;0.219)		104					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.23G>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.121985	0.37436	.	.	ENSG00000055118	ENST00000392968;ENST00000262186;ENST00000430723	D;D;D	0.99683	-5.08;-6.39;-6.39	4.75	4.75	0.60458	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.449330	0.21329	N	0.076340	D	0.99248	0.9738	M	0.89163	3.01	0.32219	N	0.575448	B;B;B	0.13145	0.0;0.007;0.001	B;B;B	0.18263	0.001;0.005;0.021	D	0.99987	1.3558	10	0.72032	D	0.01	.	11.2138	0.48815	0.0:0.8138:0.1862:0.0	.	8;104;104	C4PFH9;G5E9I0;Q12809	.;.;KCNH2_HUMAN	I	8;104;104	ENSP00000376695:S8I;ENSP00000262186:S104I;ENSP00000387657:S104I	ENSP00000262186:S104I	S	-	2	0	KCNH2	150287754	0.530000	0.26330	1.000000	0.80357	0.844000	0.47949	0.292000	0.19011	2.193000	0.70182	0.450000	0.29827	AGC		0.582	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		8	26	1	0	1.06961e-07	1	1.26574e-07	8	26				
RNASE3	6037	broad.mit.edu	37	14	21359858	21359858	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21359858C>T	ENST00000304639.3	+	2	71	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	5					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GGTTCCAAAACTGTTCACTTC	0.502																																						ENST00000304639.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9						c.(13-15)Ctg>Ttg		ribonuclease, RNase A family, 3	Pranlukast(DB01411)						110.0	126.0	120.0					14																	21359858		2191	4298	6489	SO:0001819	synonymous_variant	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21359858C>T	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.13C>T	14.37:g.21359858C>T							p.L5L	NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	71	+	all_cancers(95;0.00453)		5					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Silent	SNP	ENST00000304639.3	37	c.13C>T	CCDS9560.1																																																																																				0.502	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		5	143	0	0	0	1	0	5	143				
HAS3	3038	broad.mit.edu	37	16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582																																						ENST00000306560.1																			1	Substitution - Missense(1)	p.R330Q(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(988-990)cGa>cAa		hyaluronan synthase 3							65.0	61.0	63.0					16																	69148496		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148496G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.989G>A	16.37:g.69148496G>A	ENSP00000304440:p.Arg330Gln					HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q	p.R330Q	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1145	+		Ovarian(137;0.101)	330					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.989G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977595	0.34848	.	.	ENSG00000103044	ENST00000306560	T	0.62232	0.04	6.07	2.63	0.31362	.	0.165142	0.52532	N	0.000068	T	0.63686	0.2532	M	0.86028	2.79	0.28693	N	0.904517	B	0.09022	0.002	B	0.06405	0.002	T	0.61113	-0.7128	10	0.40728	T	0.16	-12.7238	12.0982	0.53767	0.2252:0.0:0.7748:0.0	.	330	O00219	HAS3_HUMAN	Q	330	ENSP00000304440:R330Q	ENSP00000304440:R330Q	R	+	2	0	HAS3	67705997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.742000	0.38248	0.894000	0.36317	0.655000	0.94253	CGA		0.582	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		14	27	0	0	0	1	0	14	27				
NCOA2	10499	broad.mit.edu	37	8	71128943	71128943	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71128943C>A	ENST00000452400.2	-	3	219	c.38G>T	c.(37-39)aGg>aTg	p.R13M		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	13					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGTCTCTGCCCTGGAGGGGTC	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(37-39)aGg>aTg		nuclear receptor coactivator 2							176.0	168.0	171.0					8																	71128943		1863	4118	5981	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71128943C>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.38G>T	8.37:g.71128943C>A	ENSP00000399968:p.Arg13Met						p.R13M	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	219	-	Breast(64;0.201)		13					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.38G>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938389	0.92526	.	.	ENSG00000140396	ENST00000452400;ENST00000519724	T	0.01685	4.69	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.41124	-0.9526	10	0.51188	T	0.08	.	19.2916	0.94102	0.0:1.0:0.0:0.0	.	13	Q15596	NCOA2_HUMAN	M	13	ENSP00000399968:R13M	ENSP00000399968:R13M	R	-	2	0	NCOA2	71291497	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.483000	0.60264	2.861000	0.98227	0.655000	0.94253	AGG		0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			5	116	1	0	8.12818e-05	1	8.99451e-05	5	116				
FAT4	79633	broad.mit.edu	37	4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A	rs182837803		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGTTCGCTATGGCATT	0.413																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6568-6570)cGc>cAc		FAT atypical cadherin 4							171.0	153.0	159.0					4																	126336687		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336687G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6569G>A	4.37:g.126336687G>A	ENSP00000377862:p.Arg2190His					FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	p.R2190H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6582	+			2190			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6569G>A	CCDS3732.3	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.36	1.614369	0.28712	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.6	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.000000	0.35235	U	0.003351	T	0.02807	0.0084	L	0.42245	1.32	0.53688	D	0.99997	B;B	0.18968	0.021;0.032	B;B	0.22753	0.021;0.041	T	0.52011	-0.8632	10	0.37606	T	0.19	.	16.1535	0.81640	0.0:0.1337:0.8663:0.0	.	488;2190	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	2190;488	ENSP00000377862:R2190H;ENSP00000335169:R488H	ENSP00000335169:R488H	R	+	2	0	FAT4	126556137	1.000000	0.71417	0.995000	0.50966	0.080000	0.17528	7.668000	0.83897	1.303000	0.44873	0.557000	0.71058	CGC		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	103	0	0	0	1	0	18	103				
FBXO10	26267	broad.mit.edu	37	9	37512652	37512652	+	Silent	SNP	G	G	T	rs541060303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37512652G>T	ENST00000432825.2	-	11	2811	c.2763C>A	c.(2761-2763)ccC>ccA	p.P921P	FBXO10_ENST00000541829.1_Silent_p.P446P|RP11-613M10.8_ENST00000544475.1_5'UTR|RP11-613M10.6_ENST00000413915.1_RNA	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	921					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGGCTGCCGAGGGACGTCTGA	0.577																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2761-2763)ccC>ccA		F-box protein 10							87.0	88.0	88.0					9																	37512652		1984	4156	6140	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37512652G>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2763C>A	9.37:g.37512652G>T						RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.P446P	p.P921P	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	11	2811	-			921					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.2763C>A	CCDS47966.1																																																																																				0.577	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			8	79	1	0	1.06961e-07	1	1.26574e-07	8	79				
FAM71B	153745	broad.mit.edu	37	5	156589936	156589936	+	Missense_Mutation	SNP	C	C	T	rs144873852	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589936C>T	ENST00000302938.4	-	2	1435	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	447						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTGCCTTGCGGTGATGAGA	0.498													C|||	2	0.000399361	0.0	0.0	5008	,	,		20653	0.002		0.0	False		,,,				2504	0.0					ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1339-1341)cGc>cAc		family with sequence similarity 71, member B							170.0	162.0	165.0					5																	156589936		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589936C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1340G>A	5.37:g.156589936C>T	ENSP00000305596:p.Arg447His						p.R447H	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1435	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	447					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1340G>A	CCDS4335.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	9.807	1.182052	0.21787	.	.	ENSG00000170613	ENST00000302938	T	0.19105	2.17	4.64	-9.28	0.00656	.	1.354870	0.05270	N	0.517312	T	0.11793	0.0287	N	0.17631	0.505	0.18873	N	0.999986	B	0.12630	0.006	B	0.08055	0.003	T	0.26916	-1.0089	10	0.39692	T	0.17	-0.0752	11.165	0.48537	0.0:0.5967:0.1171:0.2862	.	447	Q8TC56	FA71B_HUMAN	H	447	ENSP00000305596:R447H	ENSP00000305596:R447H	R	-	2	0	FAM71B	156522514	0.000000	0.05858	0.038000	0.18304	0.097000	0.18754	-2.132000	0.01309	-2.074000	0.00877	-0.302000	0.09304	CGC		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		67	80	0	0	0	1	0	67	80				
DBH	1621	broad.mit.edu	37	9	136505010	136505010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136505010C>T	ENST00000393056.2	+	2	394	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	128	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCTGGATCCCCAGCAGGACTA	0.612																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(382-384)Cag>Tag		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						44.0	37.0	39.0					9																	136505010		2203	4300	6503	SO:0001587	stop_gained	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136505010C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.382C>T	9.37:g.136505010C>T	ENSP00000376776:p.Gln128*						p.Q128*	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	2	394	+			128			DOMON.		Q5T381|Q96AG2	Nonsense_Mutation	SNP	ENST00000393056.2	37	c.382C>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	34	5.394979	0.96009	.	.	ENSG00000123454	ENST00000393056	.	.	.	4.89	3.96	0.45880	.	0.227216	0.46145	D	0.000302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-15.1509	14.4733	0.67531	0.0:0.8514:0.1486:0.0	.	.	.	.	X	128	.	ENSP00000376776:Q128X	Q	+	1	0	DBH	135494831	1.000000	0.71417	0.882000	0.34594	0.872000	0.50106	5.447000	0.66606	0.988000	0.38734	0.561000	0.74099	CAG		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		8	14	0	0	0	1	0	8	14				
VPS13B	157680	broad.mit.edu	37	8	100396497	100396497	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100396497G>A	ENST00000358544.2	+	20	2997	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	VPS13B_ENST00000357162.2_Silent_p.T962T|VPS13B_ENST00000395996.1_Silent_p.T962T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	962					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTATATACGTGGCTCATCT	0.313																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2884-2886)acG>acA		vacuolar protein sorting 13 homolog B (yeast)							137.0	129.0	132.0					8																	100396497		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100396497G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2886G>A	8.37:g.100396497G>A						VPS13B_ENST00000358544.2_Silent_p.T962T|VPS13B_ENST00000357162.2_Silent_p.T962T	p.T962T			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		20	2997	+	Breast(36;3.73e-07)		962					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.2886G>A	CCDS6280.1																																																																																				0.313	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	99	0	0	0	1	0	10	99				
GPR179	440435	broad.mit.edu	37	17	36483989	36483989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36483989C>A	ENST00000342292.4	-	11	5483	c.5463G>T	c.(5461-5463)gaG>gaT	p.E1821D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1821					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTCACTTACCTCCCAGGGAC	0.532																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5461-5463)gaG>gaT		G protein-coupled receptor 179							153.0	145.0	148.0					17																	36483989		1965	4151	6116	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483989C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5463G>T	17.37:g.36483989C>A	ENSP00000345060:p.Glu1821Asp					GPR179_ENST00000584976.1_Intron	p.E1821D	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5483	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1821						Missense_Mutation	SNP	ENST00000342292.4	37	c.5463G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841993	0.51057	.	.	ENSG00000188888	ENST00000342292	T	0.56103	0.48	4.94	1.76	0.24704	.	0.151079	0.30901	N	0.008643	T	0.65176	0.2666	M	0.71036	2.16	0.29241	N	0.872639	D	0.69078	0.997	D	0.72338	0.977	T	0.60326	-0.7285	10	0.87932	D	0	-15.4254	7.0101	0.24857	0.0:0.6596:0.0:0.3404	.	1821	Q6PRD1	GP179_HUMAN	D	1821	ENSP00000345060:E1821D	ENSP00000345060:E1821D	E	-	3	2	GPR179	33737515	0.002000	0.14202	0.597000	0.28824	0.823000	0.46562	-0.118000	0.10692	0.206000	0.20587	0.655000	0.94253	GAG		0.532	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			68	107	1	0	3.94839e-29	1	5.28253e-29	68	107				
MAMLD1	10046	broad.mit.edu	37	X	149671607	149671607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149671607C>T	ENST00000370401.2	+	6	2414	c.2104C>T	c.(2104-2106)Cag>Tag	p.Q702*	MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.Q677*|MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.Q702*|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000455522.2_Nonsense_Mutation_p.Q142*			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	702					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGGGCGACAGCCCCCGTC	0.612																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(2104-2106)Cag>Tag		mastermind-like domain containing 1							85.0	88.0	87.0					X																	149671607		2203	4300	6503	SO:0001587	stop_gained	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149671607C>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2104C>T	X.37:g.149671607C>T	ENSP00000359428:p.Gln702*					MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.Q677*|MAMLD1_ENST00000455522.2_Nonsense_Mutation_p.Q142*|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.Q702*	p.Q702*			Q13495	MAMD1_HUMAN			6	2414	+	Acute lymphoblastic leukemia(192;6.56e-05)		702					B2RCQ4|B4DG93|B9EGA5	Nonsense_Mutation	SNP	ENST00000370401.2	37	c.2104C>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	37	6.493172	0.97612	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000262858;ENST00000426613;ENST00000455522	.	.	.	3.55	3.55	0.40652	.	0.136567	0.34133	N	0.004235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.7056	0.40214	0.0:1.0:0.0:0.0	.	.	.	.	X	574;702;702;677;142	.	ENSP00000262858:Q702X	Q	+	1	0	MAMLD1	149422265	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.892000	0.48625	2.036000	0.60181	0.529000	0.55759	CAG		0.612	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		12	162	0	0	0	1	0	12	162				
KLF2	10365	broad.mit.edu	37	19	16437757	16437757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16437757G>A	ENST00000248071.5	+	3	1090	c.983G>A	c.(982-984)gGc>gAc	p.G328D	CTD-2562J15.6_ENST00000588799.1_RNA|KLF2_ENST00000592003.1_Missense_Mutation_p.A56T	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	328					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						AAGCACACGGGCCACCGGCCA	0.652																																						ENST00000248071.5																			0				haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						c.(982-984)gGc>gAc		Kruppel-like factor 2							58.0	46.0	50.0					19																	16437757		2203	4300	6503	SO:0001583	missense	10365				positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:16437757G>A	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6347	protein-coding gene	gene with protein product		602016	"""Kruppel-like factor 2 (lung)"""			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.983G>A	19.37:g.16437757G>A	ENSP00000248071:p.Gly328Asp					KLF2_ENST00000592003.1_Missense_Mutation_p.A56T	p.G328D	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN			3	1090	+			328					Q6IPC4|Q9UJS5|Q9UKR6	Missense_Mutation	SNP	ENST00000248071.5	37	c.983G>A	CCDS12343.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452647	0.63290	.	.	ENSG00000127528	ENST00000248071	T	0.26660	1.72	4.43	3.39	0.38822	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43456	0.1248	L	0.52206	1.635	0.32431	N	0.548046	D	0.89917	1.0	D	0.97110	1.0	T	0.54456	-0.8291	9	0.87932	D	0	.	11.5499	0.50715	0.0887:0.0:0.9113:0.0	.	328	Q9Y5W3	KLF2_HUMAN	D	328	ENSP00000248071:G328D	ENSP00000248071:G328D	G	+	2	0	KLF2	16298757	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	9.552000	0.98115	0.992000	0.38840	0.467000	0.42956	GGC		0.652	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			11	13	0	0	0	1	0	11	13				
RYR2	6262	broad.mit.edu	37	1	237955587	237955587	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237955587T>G	ENST00000366574.2	+	94	14063	c.13746T>G	c.(13744-13746)atT>atG	p.I4582M	RYR2_ENST00000360064.6_Missense_Mutation_p.I4588M|RYR2_ENST00000542537.1_Missense_Mutation_p.I4566M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4582					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACGGTCATTTCTTTCTTCT	0.478																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13744-13746)atT>atG		ryanodine receptor 2 (cardiac)							63.0	69.0	67.0					1																	237955587		2059	4189	6248	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237955587T>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13746T>G	1.37:g.237955587T>G	ENSP00000355533:p.Ile4582Met					RYR2_ENST00000542537.1_Missense_Mutation_p.I4566M|RYR2_ENST00000360064.6_Missense_Mutation_p.I4588M	p.I4582M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		94	14063	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4582					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13746T>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490489	0.64074	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.95412	-3.7;-3.7;-3.7	5.49	-5.37	0.02681	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000013	D	0.96052	0.8714	L	0.55213	1.73	0.43994	D	0.996696	P;D	0.69078	0.823;0.997	P;D	0.83275	0.681;0.996	D	0.93763	0.7068	10	0.72032	D	0.01	-18.4831	17.4304	0.87538	0.0:0.7486:0.0:0.2514	.	15;4582	F5H3C7;Q92736	.;RYR2_HUMAN	M	4582;4588;4566;15	ENSP00000355533:I4582M;ENSP00000353174:I4588M;ENSP00000443798:I4566M	ENSP00000353174:I4588M	I	+	3	3	RYR2	236022210	0.597000	0.26874	0.610000	0.28997	0.722000	0.41435	-0.136000	0.10405	-0.782000	0.04541	-0.263000	0.10527	ATT		0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	51	0	0	0	1	0	4	51				
PPFIA1	8500	broad.mit.edu	37	11	70172385	70172385	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70172385A>G	ENST00000253925.7	+	6	839	c.624A>G	c.(622-624)gaA>gaG	p.E208E	PPFIA1_ENST00000389547.3_Silent_p.E208E|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	208					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCTTAAAGAACAGAATAATC	0.328																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(622-624)gaA>gaG		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							46.0	42.0	43.0					11																	70172385		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172385A>G	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.624A>G	11.37:g.70172385A>G						CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.E208E	p.E208E	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		6	839	+			208					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.624A>G	CCDS31627.1																																																																																				0.328	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		9	17	0	0	0	1	0	9	17				
DOCK8	81704	broad.mit.edu	37	9	328087	328087	+	Silent	SNP	G	G	A	rs535994036		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:328087G>A	ENST00000453981.1	+	9	1072	c.960G>A	c.(958-960)acG>acA	p.T320T	DOCK8_ENST00000432829.2_Silent_p.T252T|DOCK8_ENST00000469391.1_Silent_p.T252T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	320					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCTCACACGCCTTCAGTGG	0.458																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(754-756)acG>acA		dedicator of cytokinesis 8							115.0	102.0	106.0					9																	328087		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:328087G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.960G>A	9.37:g.328087G>A						DOCK8_ENST00000469391.1_Silent_p.T252T|DOCK8_ENST00000453981.1_Silent_p.T320T	p.T252T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	9	1072	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	320					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.756G>A	CCDS6440.2																																																																																				0.458	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		24	35	0	0	0	1	0	24	35				
TAOK3	51347	broad.mit.edu	37	12	118636871	118636871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118636871G>A	ENST00000392533.3	-	13	1669	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	TAOK3_ENST00000419821.2_Silent_p.S393S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	393	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGCACGACGGAGGAGCTGG	0.473																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(1177-1179)tcC>tcT		TAO kinase 3							188.0	144.0	159.0					12																	118636871		2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118636871G>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1179C>T	12.37:g.118636871G>A						TAOK3_ENST00000419821.2_Silent_p.S393S	p.S393S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			13	1669	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		393			Ser-rich.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.1179C>T	CCDS9188.1																																																																																				0.473	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		29	70	0	0	0	1	0	29	70				
ZNF700	90592	broad.mit.edu	37	19	12060209	12060209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12060209C>T	ENST00000254321.5	+	4	1513	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.S439F|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCCTTCAGATCTACCTCACAC	0.483																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1315-1317)tCt>tTt		zinc finger protein 700							87.0	82.0	84.0					19																	12060209		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060209C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1370C>T	19.37:g.12060209C>T	ENSP00000254321:p.Ser457Phe					ZNF700_ENST00000254321.5_Missense_Mutation_p.S457F|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	p.S439F			Q9H0M5	ZN700_HUMAN			3	1734	+			457					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1316C>T	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.270	-0.993374	0.02145	.	.	ENSG00000196757	ENST00000254321	T	0.03580	3.88	0.659	-1.21	0.09524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	L	0.61387	1.9	0.09310	N	1	P	0.37141	0.584	B	0.36808	0.233	T	0.41161	-0.9524	9	0.14656	T	0.56	.	3.99	0.09533	0.2493:0.5014:0.2493:0.0	.	457	Q9H0M5	ZN700_HUMAN	F	457	ENSP00000254321:S457F	ENSP00000254321:S457F	S	+	2	0	ZNF700	11921209	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-3.402000	0.00483	-0.352000	0.08237	0.174000	0.16983	TCT		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		20	30	0	0	0	1	0	20	30				
SERTM1	400120	broad.mit.edu	37	13	37269260	37269260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37269260G>T	ENST00000315190.3	+	2	491	c.45G>T	c.(43-45)gaG>gaT	p.E15D		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	15						integral component of membrane (GO:0016021)											GAAGTGTGGAGAATGGAACTT	0.473																																						ENST00000315190.3																			0											c.(43-45)gaG>gaT		serine-rich and transmembrane domain containing 1							159.0	145.0	150.0					13																	37269260		2203	4300	6503	SO:0001583	missense	400120					integral to membrane		g.chr13:37269260G>T		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.45G>T	13.37:g.37269260G>T	ENSP00000325776:p.Glu15Asp						p.E15D	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	491	+			15					Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	c.45G>T	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282785	0.23392	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.1	2.36	0.29203	.	0.168366	0.52532	N	0.000079	T	0.16085	0.0387	N	0.08118	0	0.27667	N	0.946875	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	9	0.52906	T	0.07	-5.9413	4.29	0.10874	0.3517:0.1633:0.4849:0.0	.	15	A2A2V5	SRTM1_HUMAN	D	15	.	ENSP00000325776:E15D	E	+	3	2	SERTM1	36167260	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	1.332000	0.33805	0.154000	0.19237	0.563000	0.77884	GAG		0.473	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		40	56	1	0	3.66854e-30	1	4.91379e-30	40	56				
GAL	51083	broad.mit.edu	37	11	68453074	68453074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68453074C>T	ENST00000265643.3	+	3	352	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	32					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CAAGGAAAAACGAGGCTGGAC	0.612																																						ENST00000265643.3																			0				lung(4)	4						c.(94-96)Cga>Tga		galanin/GMAP prepropeptide							80.0	66.0	71.0					11																	68453074		2200	4294	6494	SO:0001587	stop_gained	51083				growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity	g.chr11:68453074C>T	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.94C>T	11.37:g.68453074C>T	ENSP00000265643:p.Arg32*						p.R32*	NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)	3	352	+	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	32					Q14413	Nonsense_Mutation	SNP	ENST00000265643.3	37	c.94C>T	CCDS8183.1	.	.	.	.	.	.	.	.	.	.	C	35	5.451717	0.96205	.	.	ENSG00000069482	ENST00000265643	.	.	.	3.36	2.23	0.28157	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7007	6.4038	0.21652	0.7239:0.2761:0.0:0.0	.	.	.	.	X	32	.	ENSP00000265643:R32X	R	+	1	2	GAL	68209650	0.965000	0.33210	0.996000	0.52242	0.738000	0.42128	0.082000	0.14847	0.394000	0.25230	-0.397000	0.06425	CGA		0.612	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396843.2	NM_001479		8	13	0	0	0	1	0	8	13				
ALG10B	144245	broad.mit.edu	37	12	38712126	38712126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38712126G>A	ENST00000308742.4	+	2	551	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	ALG10B_ENST00000551464.1_Missense_Mutation_p.A79T	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	79					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTCAAACCTGCCATTTGGAT	0.398																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(235-237)Gcc>Acc		ALG10B, alpha-1,2-glucosyltransferase							293.0	268.0	276.0					12																	38712126		2203	4300	6503	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38712126G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.235G>A	12.37:g.38712126G>A	ENSP00000310120:p.Ala79Thr					ALG10B_ENST00000551464.1_Missense_Mutation_p.A79T	p.A79T	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			2	551	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	79					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.235G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.932569	0.73442	.	.	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.56275	0.47;0.47	3.74	3.74	0.42951	.	0.050169	0.85682	D	0.000000	T	0.45438	0.1342	L	0.60455	1.87	0.51482	D	0.999924	P	0.41232	0.743	B	0.37267	0.245	T	0.41466	-0.9507	10	0.18710	T	0.47	.	13.8574	0.63537	0.0:0.0:1.0:0.0	.	79	Q5I7T1	AG10B_HUMAN	T	79	ENSP00000310120:A79T;ENSP00000448819:A79T	ENSP00000310120:A79T	A	+	1	0	ALG10B	36998393	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.045000	0.57368	2.355000	0.79922	0.655000	0.94253	GCC		0.398	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		83	147	0	0	0	1	0	83	147				
ARID1B	57492	broad.mit.edu	37	6	157256605	157256605	+	Missense_Mutation	SNP	G	G	A	rs142897795		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157256605G>A	ENST00000350026.5	+	4	1894	c.1893G>A	c.(1891-1893)atG>atA	p.M631I	ARID1B_ENST00000275248.4_Missense_Mutation_p.M573I|ARID1B_ENST00000346085.5_Missense_Mutation_p.M644I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M631I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	631	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTTAGGACATGTCTCAGGAAG	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19058	0.0		0.001	False		,,,				2504	0.0					ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1930-1932)atG>atA		AT rich interactive domain 1B (SWI1-like)		G	ILE/MET,ILE/MET	0,4406		0,0,2203	169.0	159.0	162.0		1893,1932	4.8	1.0	6	dbSNP_134	162	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	ARID1B	NM_017519.2,NM_020732.3	10,10	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	631/2237,644/2250	157256605	3,13003	2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157256605G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1893G>A	6.37:g.157256605G>A	ENSP00000055163:p.Met631Ile					ARID1B_ENST00000350026.5_Missense_Mutation_p.M631I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M573I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M631I	p.M644I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	5	1933	+		Breast(66;0.000162)|Ovarian(120;0.0265)	631					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1932G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406430	0.42715	0.0	3.49E-4	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.16457	4.84;4.84;4.86;4.86;4.55;2.34	5.71	4.83	0.62350	.	0.259165	0.32134	N	0.006529	T	0.03136	0.0092	N	0.04508	-0.205	0.29785	N	0.833686	B;B;B;B	0.28933	0.099;0.146;0.228;0.228	B;B;B;B	0.28916	0.096;0.034;0.075;0.075	T	0.28618	-1.0038	10	0.51188	T	0.08	.	11.5285	0.50595	0.0:0.1354:0.7238:0.1407	.	1;631;644;573	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	I	644;631;631;573;52;1;130;53	ENSP00000344546:M644I;ENSP00000055163:M631I;ENSP00000356116:M631I;ENSP00000275248:M573I;ENSP00000412835:M130I;ENSP00000313006:M53I	ENSP00000275248:M573I	M	+	3	0	ARID1B	157298297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.389000	0.52516	1.370000	0.46153	0.650000	0.86243	ATG		0.383	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		14	60	0	0	0	1	0	14	60				
FAM98C	147965	broad.mit.edu	37	19	38897713	38897713	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38897713A>T	ENST00000252530.5	+	7	933	c.914A>T	c.(913-915)aAc>aTc	p.N305I	FAM98C_ENST00000588262.1_Missense_Mutation_p.Q171H|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	305										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGCCATCAACAAGGTGGGC	0.597																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(913-915)aAc>aTc		family with sequence similarity 98, member C							85.0	85.0	85.0					19																	38897713		2053	4178	6231	SO:0001583	missense	147965							g.chr19:38897713A>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.914A>T	19.37:g.38897713A>T	ENSP00000252530:p.Asn305Ile					FAM98C_ENST00000588262.1_Missense_Mutation_p.Q171H|FAM98C_ENST00000343358.7_Intron	p.N305I	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	933	+	all_cancers(60;3.95e-06)		305					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.914A>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754811	0.69648	.	.	ENSG00000130244	ENST00000252530	T	0.52057	0.68	4.9	4.9	0.64082	.	0.587759	0.16270	N	0.221815	T	0.64886	0.2639	M	0.86028	2.79	0.80722	D	1	P	0.47484	0.896	P	0.53006	0.715	T	0.70439	-0.4871	10	0.87932	D	0	-2.8209	12.5371	0.56147	1.0:0.0:0.0:0.0	.	305	Q17RN3	FA98C_HUMAN	I	305	ENSP00000252530:N305I	ENSP00000252530:N305I	N	+	2	0	FAM98C	43589553	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	5.628000	0.67791	1.845000	0.53610	0.529000	0.55759	AAC		0.597	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		6	96	0	0	0	1	0	6	96				
ZNF235	9310	broad.mit.edu	37	19	44793311	44793311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44793311C>A	ENST00000291182.4	-	5	379	c.277G>T	c.(277-279)Gca>Tca	p.A93S	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTTAATCCTGCTTTGTGAAGA	0.403																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(277-279)Gca>Tca		zinc finger protein 235							42.0	43.0	42.0					19																	44793311		2199	4296	6495	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44793311C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.277G>T	19.37:g.44793311C>A	ENSP00000291182:p.Ala93Ser					ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	p.A93S	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	379	-		Prostate(69;0.0352)|all_neural(266;0.116)	93					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.277G>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.854990	0.17106	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	T	0.04970	3.52	3.92	1.7	0.24286	.	0.419748	0.17665	N	0.166164	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	B;B	0.25904	0.137;0.085	B;B	0.28011	0.085;0.039	T	0.45818	-0.9235	10	0.09590	T	0.72	.	5.8682	0.18789	0.0:0.5124:0.0:0.4876	.	89;93	Q14590-2;Q14590	.;ZN235_HUMAN	S	89;93;93;15	ENSP00000291182:A93S	ENSP00000291182:A93S	A	-	1	0	ZNF235	49485151	0.000000	0.05858	0.048000	0.18961	0.445000	0.32107	0.115000	0.15540	0.364000	0.24374	0.462000	0.41574	GCA		0.403	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			35	41	1	0	4.65686e-17	1	6.02554e-17	35	41				
ANKRD13B	124930	broad.mit.edu	37	17	27934865	27934865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27934865G>A	ENST00000394859.3	+	2	374	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	74						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CGGCGCAGACGTGGGCAGGGA	0.697																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(220-222)Gtg>Atg		ankyrin repeat domain 13B							22.0	26.0	25.0					17																	27934865		2193	4291	6484	SO:0001583	missense	124930							g.chr17:27934865G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.220G>A	17.37:g.27934865G>A	ENSP00000378328:p.Val74Met					RP11-68I3.2_ENST00000581474.1_RNA	p.V74M	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			2	374	+			74					Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.220G>A	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348769	0.95807	.	.	ENSG00000198720	ENST00000394859	T	0.73897	-0.79	5.8	5.8	0.92144	Ankyrin repeat-containing domain (4);	0.108809	0.64402	D	0.000008	D	0.85792	0.5779	M	0.72624	2.21	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.86266	0.1658	10	0.72032	D	0.01	-28.5295	19.6609	0.95871	0.0:0.0:1.0:0.0	.	74	Q86YJ7	AN13B_HUMAN	M	74	ENSP00000378328:V74M	ENSP00000378328:V74M	V	+	1	0	ANKRD13B	24958991	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.869000	0.99810	2.739000	0.93911	0.561000	0.74099	GTG		0.697	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		10	25	0	0	0	1	0	10	25				
FOXN2	3344	broad.mit.edu	37	2	48602108	48602108	+	Silent	SNP	C	C	T	rs144420824		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602108C>T	ENST00000340553.3	+	7	1083	c.822C>T	c.(820-822)taC>taT	p.Y274Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	274					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AGAGGAGTTACGGCAATGCAT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21203	0.0		0.0	False		,,,				2504	0.0					ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(820-822)taC>taT		forkhead box N2		C		0,4406		0,0,2203	73.0	66.0	68.0		822	-2.0	0.1	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FOXN2	NM_002158.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		274/432	48602108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602108C>T		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.822C>T	2.37:g.48602108C>T							p.Y274Y	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1083	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	274					Q15769|Q6P4Q2	Silent	SNP	ENST00000340553.3	37	c.822C>T	CCDS1838.1																																																																																				0.388	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		15	23	0	0	0	1	0	15	23				
TTN	7273	broad.mit.edu	37	2	179494054	179494054	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494054C>A	ENST00000591111.1	-	190	39699	c.39475G>T	c.(39475-39477)Ggg>Tgg	p.G13159W	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5735W|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5860W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12232W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G14800W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5927W			Q8WZ42	TITIN_HUMAN	titin	13159	Ig-like 87.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTCTTCCCTTTGAGATAC	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44398-44400)Ggg>Tgg		titin							145.0	149.0	148.0					2																	179494054		1970	4147	6117	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179494054C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39475G>T	2.37:g.179494054C>A	ENSP00000465570:p.Gly13159Trp					TTN_ENST00000460472.2_Missense_Mutation_p.G5735W|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12232W|TTN_ENST00000359218.5_Missense_Mutation_p.G5860W|TTN_ENST00000342175.6_Missense_Mutation_p.G5927W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13159W|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.G14800W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	44622	-			13159			Fibronectin type-III 6.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44398G>T		.	.	.	.	.	.	.	.	.	.	C	16.23	3.064960	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80093	0.4560	M	0.90870	3.155	0.50039	D	0.99984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.83593	0.0124	9	0.87932	D	0	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	5735;5860;5927;13159	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	12232;5735;5927;5860;5735	ENSP00000343764:G12232W;ENSP00000434586:G5735W;ENSP00000340554:G5927W;ENSP00000352154:G5860W	ENSP00000340554:G5927W	G	-	1	0	TTN	179202299	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.869000	0.69613	2.826000	0.97356	0.563000	0.77884	GGG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	38	1	0	0.00116845	1	0.00124821	5	38				
GABPB1	2553	broad.mit.edu	37	15	50570866	50570866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570866G>A	ENST00000220429.8	-	9	1319	c.1151C>T	c.(1150-1152)gCt>gTt	p.A384V	GABPB1_ENST00000380877.3_Missense_Mutation_p.A372V|GABPB1_ENST00000543881.1_Missense_Mutation_p.A308V			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	384					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACGAGTCATAGCTTCCAACTT	0.378																																						ENST00000380877.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(1114-1116)gCt>gTt		GA binding protein transcription factor, beta subunit 1							164.0	150.0	155.0					15																	50570866		2195	4295	6490	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50570866G>A	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.1151C>T	15.37:g.50570866G>A	ENSP00000220429:p.Ala384Val					GABPB1_ENST00000543881.1_Missense_Mutation_p.A308V|GABPB1_ENST00000220429.8_Missense_Mutation_p.A384V	p.A372V	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN			9	1538	-			384					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.1115C>T	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975861	0.53720	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881	T	0.57752	0.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.34521	1.04	0.80722	D	1	B;B	0.24721	0.003;0.11	B;B	0.26969	0.002;0.075	T	0.43278	-0.9401	10	0.72032	D	0.01	-5.3223	20.3172	0.98658	0.0:0.0:1.0:0.0	.	384;372	Q06547;Q06547-2	GABP1_HUMAN;.	V	372;384;308	ENSP00000442500:A308V	ENSP00000220429:A372V	A	-	2	0	GABPB1	48358158	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	6.563000	0.73964	2.801000	0.96364	0.650000	0.86243	GCT		0.378	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			41	60	0	0	0	1	0	41	60				
KRT25	147183	broad.mit.edu	37	17	38906730	38906730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38906730G>A	ENST00000312150.4	-	6	1137	c.1077C>T	c.(1075-1077)acC>acT	p.T359T		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGGCCCTCGGTCTCGGTTC	0.567																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1075-1077)acC>acT		keratin 25							143.0	144.0	144.0					17																	38906730		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906730G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1077C>T	17.37:g.38906730G>A							p.T359T	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1137	-		Breast(137;0.00526)	359			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1077C>T	CCDS11373.1																																																																																				0.567	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		16	247	0	0	0	1	0	16	247				
OR14I1	401994	broad.mit.edu	37	1	248845564	248845564	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248845564C>T	ENST00000342623.3	-	1	65	c.42G>A	c.(40-42)gaG>gaA	p.E14E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TACCAGAAAACTCCATCAGCA	0.448																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(40-42)gaG>gaA		olfactory receptor, family 14, subfamily I, member 1							53.0	52.0	52.0					1																	248845564		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845564C>T		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.42G>A	1.37:g.248845564C>T							p.E14E	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	65	-			14						Silent	SNP	ENST00000342623.3	37	c.42G>A	CCDS31125.1																																																																																				0.448	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		17	16	0	0	0	1	0	17	16				
RBL1	5933	broad.mit.edu	37	20	35672579	35672579	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672579T>G	ENST00000373664.3	-	13	1746	c.1680A>C	c.(1678-1680)gaA>gaC	p.E560D	RBL1_ENST00000344359.3_Missense_Mutation_p.E560D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	560	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAAAATCTGTTCTTCAATGC	0.483																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1678-1680)gaA>gaC		retinoblastoma-like 1 (p107)							122.0	115.0	117.0					20																	35672579		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35672579T>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1680A>C	20.37:g.35672579T>G	ENSP00000362768:p.Glu560Asp					RBL1_ENST00000344359.3_Missense_Mutation_p.E560D	p.E560D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			13	1746	-		Myeloproliferative disorder(115;0.00878)	560			Domain A.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1680A>C	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686569	0.68157	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.89810	-2.57;-2.57	4.75	-0.347	0.12617	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.93497	0.7925	M	0.87097	2.86	0.58432	D	0.999992	P;D	0.63880	0.863;0.993	P;D	0.73380	0.797;0.98	D	0.92054	0.5651	10	0.59425	D	0.04	-7.5154	10.6814	0.45817	0.0:0.349:0.0:0.651	.	560;560	P28749-2;P28749	.;RBL1_HUMAN	D	560	ENSP00000362768:E560D;ENSP00000343646:E560D	ENSP00000343646:E560D	E	-	3	2	RBL1	35105993	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.994000	0.29693	0.004000	0.14682	-0.451000	0.05528	GAA		0.483	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		22	38	0	0	0	1	0	22	38				
SLC10A2	6555	broad.mit.edu	37	13	103710636	103710636	+	Silent	SNP	G	G	A	rs371460461		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103710636G>A	ENST00000245312.3	-	2	1070	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	158					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AGGGAATTACGATGCTCCCAG	0.502																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(472-474)atC>atT		solute carrier family 10 (sodium/bile acid cotransporter), member 2							139.0	122.0	128.0					13																	103710636		2203	4300	6503	SO:0001819	synonymous_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710636G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.474C>T	13.37:g.103710636G>A							p.I158I	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	1070	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		158					A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	c.474C>T	CCDS9506.1																																																																																				0.502	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			18	43	0	0	0	1	0	18	43				
RPS6KB2	6199	broad.mit.edu	37	11	67198887	67198887	+	Missense_Mutation	SNP	C	C	T	rs113335412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67198887C>T	ENST00000312629.5	+	5	403	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R120W|AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_Intron	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACGGGCTGAGCGGAACATTCT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17784	0.0		0.001	False		,,,				2504	0.0					ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(358-360)Cgg>Tgg		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C	TRP/ARG	2,4256		0,2,2127	111.0	117.0	115.0		358	2.5	1.0	11	dbSNP_132	115	29,8475		0,29,4223	yes	missense	RPS6KB2	NM_003952.2	101	0,31,6350	TT,TC,CC		0.341,0.047,0.2429	probably-damaging	120/483	67198887	31,12731	2129	4252	6381	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67198887C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.358C>T	11.37:g.67198887C>T	ENSP00000308413:p.Arg120Trp					RPS6KB2_ENST00000524814.1_Intron|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R120W|AP003419.16_ENST00000535922.1_RNA	p.R120W	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		5	403	+			120			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.358C>T	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883018	0.72410	4.7E-4	0.00341	ENSG00000175634	ENST00000539188;ENST00000312629	T;T	0.65549	-0.16;-0.16	5.56	2.48	0.30137	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000010	T	0.80177	0.4575	M	0.84948	2.725	0.48452	D	0.999651	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82512	-0.0420	10	0.87932	D	0	.	14.7208	0.69305	0.5456:0.4544:0.0:0.0	.	120;120	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	W	120	ENSP00000442949:R120W;ENSP00000308413:R120W	ENSP00000308413:R120W	R	+	1	2	RPS6KB2	66955463	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	1.813000	0.38962	0.222000	0.20900	0.563000	0.77884	CGG		0.527	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		15	33	0	0	0	1	0	15	33				
INO80	54617	broad.mit.edu	37	15	41339616	41339616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41339616G>A	ENST00000361937.3	-	23	3149	c.2725C>T	c.(2725-2727)Ctt>Ttt	p.L909F	INO80_ENST00000401393.3_Missense_Mutation_p.L909F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	909	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGCCAAAAGTCCCTGAAGC	0.343																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2725-2727)Ctt>Ttt		INO80 complex subunit							59.0	61.0	60.0					15																	41339616		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41339616G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2725C>T	15.37:g.41339616G>A	ENSP00000355205:p.Leu909Phe					INO80_ENST00000401393.3_Missense_Mutation_p.L909F	p.L909F			Q9ULG1	INO80_HUMAN			23	3149	-			909			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.2725C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382375	0.42207	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91577	-2.87;-2.87	5.12	5.12	0.69794	.	0.180712	0.49916	D	0.000127	D	0.87249	0.6130	L	0.39245	1.2	0.42584	D	0.993222	B	0.19583	0.037	B	0.20955	0.032	T	0.82014	-0.0667	10	0.25106	T	0.35	.	19.1067	0.93299	0.0:0.0:1.0:0.0	.	909	Q9ULG1	INO80_HUMAN	F	909	ENSP00000355205:L909F;ENSP00000384686:L909F	ENSP00000355205:L909F	L	-	1	0	INO80	39126908	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.118000	0.71583	2.826000	0.97356	0.491000	0.48974	CTT		0.343	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		19	19	0	0	0	1	0	19	19				
RAB14	51552	broad.mit.edu	37	9	123949285	123949285	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123949285A>G	ENST00000373840.4	-	5	534	c.297T>C	c.(295-297)taT>taC	p.Y99Y		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	99					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTAAGTGGTTATATGTACTTC	0.269																																						ENST00000373840.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(295-297)taT>taC		RAB14, member RAS oncogene family							100.0	97.0	98.0					9																	123949285		2203	4298	6501	SO:0001819	synonymous_variant	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123949285A>G	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.297T>C	9.37:g.123949285A>G							p.Y99Y	NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN			5	534	-			99					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Silent	SNP	ENST00000373840.4	37	c.297T>C	CCDS6827.1																																																																																				0.269	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		7	79	0	0	0	1	0	7	79				
HECTD2	143279	broad.mit.edu	37	10	93260993	93260993	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260993G>T	ENST00000298068.5	+	20	2206	c.2112G>T	c.(2110-2112)aaG>aaT	p.K704N	HECTD2_ENST00000371667.1_Missense_Mutation_p.K354N|HECTD2_ENST00000536715.1_Missense_Mutation_p.K293N|HECTD2_ENST00000446394.1_Missense_Mutation_p.K708N	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	704	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCTTCAAAAGAAGTTGCTAC	0.348																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2122-2124)aaG>aaT		HECT domain containing E3 ubiquitin protein ligase 2							141.0	142.0	142.0					10																	93260993		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93260993G>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2112G>T	10.37:g.93260993G>T	ENSP00000298068:p.Lys704Asn					HECTD2_ENST00000536715.1_Missense_Mutation_p.K293N|HECTD2_ENST00000371667.1_Missense_Mutation_p.K354N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K704N	p.K708N			Q5U5R9	HECD2_HUMAN			21	2224	+			704			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.2124G>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711401	0.68730	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.73	2.85	0.33270	HECT (4);	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.90705	3.14	0.44289	D	0.997155	D;D	0.61697	0.99;0.984	D;P	0.67725	0.953;0.855	T	0.77286	-0.2644	10	0.87932	D	0	.	9.654	0.39914	0.3343:0.0:0.6657:0.0	.	708;704	E7ERR3;Q5U5R9	.;HECD2_HUMAN	N	708;704;293;354	ENSP00000401023:K708N;ENSP00000298068:K704N;ENSP00000439687:K293N;ENSP00000360731:K354N	ENSP00000298068:K704N	K	+	3	2	HECTD2	93250973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.603000	0.54074	0.336000	0.23639	0.655000	0.94253	AAG		0.348	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			30	52	1	0	1.2476e-16	1	1.61147e-16	30	52				
SNX31	169166	broad.mit.edu	37	8	101642602	101642602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101642602C>T	ENST00000311812.2	-	4	424	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTCTCAACACGTTTGGGTCC	0.493																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(274-276)Gtg>Atg		sorting nexin 31							89.0	73.0	79.0					8																	101642602		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101642602C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.274G>A	8.37:g.101642602C>T	ENSP00000312368:p.Val92Met						p.V92M	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		4	424	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		92			PX.		C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.274G>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930972	0.34096	.	.	ENSG00000174226	ENST00000311812;ENST00000520352;ENST00000520661	T;T;T	0.39592	1.07;1.07;1.07	5.44	0.659	0.17861	Phox homologous domain (5);	0.485873	0.17793	N	0.161807	T	0.28101	0.0693	L	0.38175	1.15	0.40021	D	0.975415	B	0.31193	0.312	B	0.27500	0.08	T	0.06356	-1.0831	10	0.40728	T	0.16	-2.0716	8.2387	0.31645	0.0:0.3529:0.0:0.6471	.	92	Q8N9S9	SNX31_HUMAN	M	92;26;93	ENSP00000312368:V92M;ENSP00000428210:V26M;ENSP00000428855:V93M	ENSP00000312368:V92M	V	-	1	0	SNX31	101711778	0.107000	0.21998	0.346000	0.25655	0.797000	0.45037	0.202000	0.17295	0.183000	0.20059	-0.266000	0.10368	GTG		0.493	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		7	12	0	0	0	1	0	7	12				
ACTRT2	140625	broad.mit.edu	37	1	2938692	2938692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938692G>A	ENST00000378404.2	+	1	647	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	148						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCTCTCTACGCCTCTGCCTG	0.617																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(442-444)Gcc>Acc		actin-related protein T2							63.0	58.0	60.0					1																	2938692		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938692G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.442G>A	1.37:g.2938692G>A	ENSP00000367658:p.Ala148Thr						p.A148T	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	647	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	148					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.442G>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900705	0.52227	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97772	-4.53	4.85	3.9	0.45041	.	0.105878	0.39341	N	0.001382	D	0.98207	0.9407	M	0.83953	2.67	0.50467	D	0.999872	D	0.67145	0.996	P	0.58520	0.84	D	0.98302	1.0519	10	0.87932	D	0	.	12.7167	0.57119	0.0:0.0:0.8283:0.1717	.	148	Q8TDY3	ACTT2_HUMAN	T	148	ENSP00000367658:A148T	ENSP00000367658:A148T	A	+	1	0	ACTRT2	2928552	1.000000	0.71417	0.999000	0.59377	0.161000	0.22273	5.522000	0.67092	0.964000	0.38108	0.561000	0.74099	GCC		0.617	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		15	26	0	0	0	1	0	15	26				
LYST	1130	broad.mit.edu	37	1	235972444	235972444	+	Silent	SNP	C	C	T	rs149520131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235972444C>T	ENST00000389794.3	-	5	1848	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	LYST_ENST00000389793.2_Silent_p.L558L|LYST_ENST00000536965.1_Silent_p.L558L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	558					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTAGTAAGCGCAAGCACTGAT	0.453																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(1672-1674)ttG>ttA		lysosomal trafficking regulator		C		1,4405	2.1+/-5.4	0,1,2202	102.0	95.0	98.0		1674	-5.2	0.0	1	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	LYST	NM_000081.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		558/3802	235972444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972444C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1674G>A	1.37:g.235972444C>T						LYST_ENST00000389793.2_Silent_p.L558L|LYST_ENST00000536965.1_Silent_p.L558L	p.L558L			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1848	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	558					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.1674G>A	CCDS31062.1																																																																																				0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			13	91	0	0	0	1	0	13	91				
PASK	23178	broad.mit.edu	37	2	242054372	242054372	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242054372C>T	ENST00000405260.1	-	14	4032				PASK_ENST00000234040.4_Intron|PASK_ENST00000475666.1_5'Flank|PASK_ENST00000358649.4_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000403638.3_Missense_Mutation_p.R1140Q	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase						negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGAGAGAACCGAGTATGGAT	0.478																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3418-3420)cGg>cAg		PAS domain containing serine/threonine kinase																																				SO:0001627	intron_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242054372C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3333+85G>A	2.37:g.242054372C>T						PASK_ENST00000405260.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Intron|PASK_ENST00000234040.4_Intron	p.R1140Q	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	14	3510	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	0			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3419G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415686	0.25552	.	.	ENSG00000115687	ENST00000403638	T	0.52526	0.66	3.19	-6.38	0.01957	.	.	.	.	.	T	0.27063	0.0663	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24368	-1.0162	8	0.87932	D	0	.	0.2968	0.00266	0.3589:0.1392:0.221:0.2809	.	1140	G5E9F1	.	Q	1140	ENSP00000384438:R1140Q	ENSP00000384438:R1140Q	R	-	2	0	PASK	241703045	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-4.939000	0.00168	-2.210000	0.00738	-0.219000	0.12488	CGG		0.478	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		45	54	0	0	0	1	0	45	54				
SCAF11	9169	broad.mit.edu	37	12	46320202	46320202	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46320202T>A	ENST00000369367.3	-	11	3515	c.3282A>T	c.(3280-3282)gaA>gaT	p.E1094D	SCAF11_ENST00000549162.1_Missense_Mutation_p.E902D|SCAF11_ENST00000465950.1_Missense_Mutation_p.E779D|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.E1094D	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1094					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCCACCGATTTTCATTCTGAT	0.433																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2335-2337)gaA>gaT		SR-related CTD-associated factor 11							70.0	76.0	74.0					12																	46320202		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320202T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3282A>T	12.37:g.46320202T>A	ENSP00000358374:p.Glu1094Asp					SCAF11_ENST00000549162.1_Missense_Mutation_p.E902D|SCAF11_ENST00000419565.2_Missense_Mutation_p.E1094D|SCAF11_ENST00000369367.3_Missense_Mutation_p.E1094D	p.E779D			Q99590	SCAFB_HUMAN			1	3546	-			1094					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2337A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990215	0.54041	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.85	3.54	0.40534	.	0.231983	0.38164	N	0.001793	T	0.59542	0.2201	L	0.47716	1.5	0.34349	D	0.689622	P;D	0.69078	0.859;0.997	B;D	0.68039	0.423;0.955	T	0.66810	-0.5829	10	0.38643	T	0.18	-8.5951	8.4282	0.32742	0.0:0.2199:0.0:0.7801	.	902;1094	F8VXG7;Q99590	.;SCAFB_HUMAN	D	779;1094;902;1094	ENSP00000449812:E779D;ENSP00000358374:E1094D;ENSP00000448864:E902D;ENSP00000413036:E1094D	ENSP00000358374:E1094D	E	-	3	2	SCAF11	44606469	1.000000	0.71417	0.933000	0.37362	0.885000	0.51271	0.971000	0.29396	1.059000	0.40554	0.533000	0.62120	GAA		0.433	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	66	0	0	0	1	0	7	66				
SMC6	79677	broad.mit.edu	37	2	17902486	17902486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17902486G>A	ENST00000448223.2	-	10	1038	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	SMC6_ENST00000351948.4_Missense_Mutation_p.R257C|SMC6_ENST00000381272.4_Missense_Mutation_p.R283C|SMC6_ENST00000402989.1_Missense_Mutation_p.R257C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	257					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGAAAACGTTCCTCTTTC	0.333																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(769-771)Cgt>Tgt		structural maintenance of chromosomes 6							123.0	119.0	121.0					2																	17902486		2202	4300	6502	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17902486G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.769C>T	2.37:g.17902486G>A	ENSP00000404092:p.Arg257Cys					SMC6_ENST00000381272.4_Missense_Mutation_p.R283C|SMC6_ENST00000402989.1_Missense_Mutation_p.R257C|SMC6_ENST00000351948.4_Missense_Mutation_p.R257C	p.R257C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			10	1038	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		257					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.769C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901567	0.52227	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	5.88	4.99	0.66335	RecF/RecN/SMC (1);	0.148257	0.64402	D	0.000012	T	0.06508	0.0167	L	0.39898	1.24	0.58432	D	0.999998	B;P;B	0.37500	0.424;0.597;0.29	B;B;B	0.34779	0.092;0.082;0.189	T	0.39035	-0.9633	10	0.38643	T	0.18	.	11.4338	0.50056	0.0:0.1365:0.7217:0.1418	.	283;283;257	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	C	257;257;283;257;283	ENSP00000404092:R257C;ENSP00000323439:R257C;ENSP00000370672:R283C;ENSP00000384539:R257C;ENSP00000408644:R283C	ENSP00000323439:R257C	R	-	1	0	SMC6	17765967	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.811000	0.62606	1.455000	0.47813	0.591000	0.81541	CGT		0.333	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		27	30	0	0	0	1	0	27	30				
SH2D3A	10045	broad.mit.edu	37	19	6755085	6755085	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6755085C>T	ENST00000245908.6	-	5	1007	c.738G>A	c.(736-738)ccG>ccA	p.P246P	SH2D3A_ENST00000437152.3_Silent_p.P124P|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	246					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGCTTTGGCTCGGGGATGTTC	0.612																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(736-738)ccG>ccA		SH2 domain containing 3A							151.0	170.0	164.0					19																	6755085		2203	4300	6503	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755085C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.738G>A	19.37:g.6755085C>T						SH2D3A_ENST00000437152.3_Silent_p.P124P|SH2D3A_ENST00000599563.1_5'UTR	p.P246P	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	1007	-			246					A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.738G>A	CCDS12173.1																																																																																				0.612	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	303	0	0	0	1	0	7	303				
DNAH2	146754	broad.mit.edu	37	17	7671223	7671223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7671223C>T	ENST00000572933.1	+	23	5141	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L	DNAH2_ENST00000389173.2_Silent_p.L1227L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1227	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTAGGAGCTCGATGCCCTCC	0.602																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3679-3681)ctC>ctT		dynein, axonemal, heavy chain 2							51.0	45.0	47.0					17																	7671223		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7671223C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3681C>T	17.37:g.7671223C>T						DNAH2_ENST00000389173.2_Silent_p.L1227L	p.L1227L			Q9P225	DYH2_HUMAN			23	5141	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1227			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.3681C>T	CCDS32551.1																																																																																				0.602	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	25	0	0	0	1	0	11	25				
ZRSR1	7310	broad.mit.edu	37	5	112228017	112228017	+	Silent	SNP	C	C	T	rs550786485		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112228017C>T	ENST00000391338.1	+	1	705	c.681C>T	c.(679-681)gaC>gaT	p.D227D	REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000379638.4_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	227	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						ATGACCCTGACGCAAGCCTGG	0.453																																						ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(679-681)gaC>gaT		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001819	synonymous_variant	7310							g.chr5:112228017C>T	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.681C>T	5.37:g.112228017C>T						SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron	p.D227D	NM_001204199.1	NP_001191128.1					1	705	+								B2R901|Q13570|Q2M3R8	Silent	SNP	ENST00000391338.1	37	c.681C>T																																																																																					0.453	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		31	53	0	0	0	1	0	31	53				
ZMYM3	9203	broad.mit.edu	37	X	70469915	70469915	+	Silent	SNP	G	G	A	rs371734328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70469915G>A	ENST00000353904.2	-	6	1399	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	ZMYM3_ENST00000373984.3_Silent_p.A406A|ZMYM3_ENST00000373981.1_Silent_p.A404A|ZMYM3_ENST00000373988.1_Silent_p.A406A|ZMYM3_ENST00000314425.5_Silent_p.A404A|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P308L|ZMYM3_ENST00000373982.1_Silent_p.A406A|ZMYM3_ENST00000373998.1_Silent_p.A404A|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	404					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAGTAGCGTCGGCGGGATCCC	0.622																																						ENST00000373978.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(922-924)cCg>cTg		zinc finger, MYM-type 3		G	,,,	0,3835		0,0,1632,571	34.0	31.0	32.0		1212,1212,1212,1212	-8.5	0.0	X		32	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZMYM3	NM_001171162.1,NM_001171163.1,NM_005096.3,NM_201599.2	,,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,,	404/1359,404/496,404/1371,404/1371	70469915	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469915G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1212C>T	X.37:g.70469915G>A						ZMYM3_ENST00000373981.1_Silent_p.A404A|ZMYM3_ENST00000373982.1_Silent_p.A406A|ZMYM3_ENST00000373988.1_Silent_p.A406A|ZMYM3_ENST00000314425.5_Silent_p.A404A|ZMYM3_ENST00000373984.3_Silent_p.A406A|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Silent_p.A404A|ZMYM3_ENST00000353904.2_Silent_p.A404A	p.P308L			Q14202	ZMYM3_HUMAN			5	1000	-	Renal(35;0.156)		0					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.923C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.158741	0.00028	0.0	1.49E-4	ENSG00000147130	ENST00000373978	.	.	.	4.26	-8.52	0.00920	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.33213	D	0.553648	.	.	.	.	.	.	T	0.57831	-0.7743	5	0.87932	D	0	-9.3873	4.1891	0.10413	0.5774:0.1305:0.1009:0.1911	.	.	.	.	L	308	.	ENSP00000363090:P308L	P	-	2	0	ZMYM3	70386640	0.000000	0.05858	0.017000	0.16124	0.806000	0.45545	-5.477000	0.00119	-3.607000	0.00133	-1.383000	0.01170	CCG		0.622	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		3	10	0	0	0	1	0	3	10				
TTC38	55020	broad.mit.edu	37	22	46677495	46677495	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46677495G>T	ENST00000381031.3	+	7	691		c.e7-1		TTC38_ENST00000445282.2_Splice_Site	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38							extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACCCTGCGTAGGCTTTATCTA	0.577																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.e7-1		tetratricopeptide repeat domain 38							103.0	104.0	104.0					22																	46677495		1987	4167	6154	SO:0001630	splice_region_variant	55020						binding	g.chr22:46677495G>T		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.616-1G>T	22.37:g.46677495G>T						TTC38_ENST00000445282.2_Splice_Site		NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			7	691	+								Q8WV27|Q9NWP8	Splice_Site	SNP	ENST00000381031.3	37		CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318766	0.41096	.	.	ENSG00000075234	ENST00000381031;ENST00000445282	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC38	45056159	1.000000	0.71417	0.985000	0.45067	0.028000	0.11728	8.315000	0.89983	2.733000	0.93635	0.655000	0.94253	.		0.577	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931	Intron	20	60	1	0	4.63292e-17	1	5.99748e-17	20	60				
PHTF2	57157	broad.mit.edu	37	7	77579012	77579012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77579012G>A	ENST00000248550.7	+	16	2053	c.1977G>A	c.(1975-1977)gaG>gaA	p.E659E	PHTF2_ENST00000416283.2_Silent_p.E625E|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000422959.2_Silent_p.E625E|PHTF2_ENST00000307305.8_Silent_p.E621E			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ATGTACACGAGATCTTCCTTG	0.328																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1873-1875)gaG>gaA		putative homeodomain transcription factor 2							121.0	113.0	116.0					7																	77579012		1857	4087	5944	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77579012G>A	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1977G>A	7.37:g.77579012G>A						PHTF2_ENST00000248550.7_Silent_p.E659E|PHTF2_ENST00000422959.2_Silent_p.E625E|PHTF2_ENST00000307305.8_Silent_p.E621E|PHTF2_ENST00000275575.7_Intron	p.E625E	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			15	2001	+			659					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.1875G>A																																																																																					0.328	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		10	5	0	0	0	1	0	10	5				
GPNMB	10457	broad.mit.edu	37	7	23306199	23306199	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23306199G>T	ENST00000381990.2	+	7	1279	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	GPNMB_ENST00000453162.2_Missense_Mutation_p.R315I|GPNMB_ENST00000258733.4_Missense_Mutation_p.R361I|GPNMB_ENST00000539136.1_Missense_Mutation_p.R262I	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	373					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAGATTAACAGATATGGCCAC	0.478																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1081-1083)aGa>aTa		glycoprotein (transmembrane) nmb							85.0	74.0	78.0					7																	23306199		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23306199G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1118G>T	7.37:g.23306199G>T	ENSP00000371420:p.Arg373Ile					GPNMB_ENST00000539136.1_Missense_Mutation_p.R262I|GPNMB_ENST00000381990.2_Missense_Mutation_p.R373I|GPNMB_ENST00000453162.2_Missense_Mutation_p.R315I	p.R361I			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		7	1377	+			373					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1082G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615985	0.66672	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.18338	2.23;2.22;2.23;2.22	5.89	5.89	0.94794	PKD/Chitinase domain (1);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;1.0;0.999;0.996	T	0.53158	-0.8478	10	0.87932	D	0	-26.2305	20.3344	0.98733	0.0:0.0:1.0:0.0	.	262;315;373;361	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	I	361;408;373;256;262;315	ENSP00000258733:R361I;ENSP00000371420:R373I;ENSP00000445266:R262I;ENSP00000405586:R315I	ENSP00000258733:R361I	R	+	2	0	GPNMB	23272724	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	4.959000	0.63666	2.822000	0.97130	0.650000	0.86243	AGA		0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		5	51	1	0	1.23904e-05	1	1.39987e-05	5	51				
STRIP2	57464	broad.mit.edu	37	7	129096345	129096345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129096345G>A	ENST00000249344.2	+	9	940	c.900G>A	c.(898-900)ctG>ctA	p.L300L	STRIP2_ENST00000435494.2_Silent_p.L300L	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	300					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AATTGGGCCTGCCTCCACTGG	0.562																																						ENST00000249344.2																			0											c.(898-900)ctG>ctA		striatin interacting protein 2							93.0	89.0	90.0					7																	129096345		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129096345G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.900G>A	7.37:g.129096345G>A						STRIP2_ENST00000435494.2_Silent_p.L300L	p.L300L	NM_020704.2	NP_065755.1					9	940	+								Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.900G>A	CCDS34752.1																																																																																				0.562	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		5	115	0	0	0	1	0	5	115				
PDGFD	80310	broad.mit.edu	37	11	103870879	103870879	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870879G>A	ENST00000393158.2	-	2	408	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	PDGFD_ENST00000302251.5_Silent_p.L71L			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	77	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTCAGGAGCAGGTTCCTGGGG	0.483																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(211-213)Ctg>Ttg		platelet derived growth factor D							184.0	171.0	175.0					11																	103870879		2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870879G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.229C>T	11.37:g.103870879G>A						PDGFD_ENST00000393158.2_Silent_p.L77L	p.L71L	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	662	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	77			CUB.		A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.211C>T	CCDS41703.1																																																																																				0.483	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		48	104	0	0	0	1	0	48	104				
ITSN2	50618	broad.mit.edu	37	2	24494740	24494740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24494740G>A	ENST00000355123.4	-	19	2595	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	SCARNA21_ENST00000515996.1_RNA|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.R691*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.R718*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	718					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tcctggagtcgcttttgtttt	0.338																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(2152-2154)Cga>Tga		intersectin 2							108.0	100.0	103.0					2																	24494740		2202	4300	6502	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24494740G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2152C>T	2.37:g.24494740G>A	ENSP00000347244:p.Arg718*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.R718*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.R691*	p.R718*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			19	2595	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		718					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.2152C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	41	8.885907	0.98990	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	4.44	4.44	0.53790	.	0.755044	0.10142	U	0.710689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3601	0.74464	0.0:0.0:1.0:0.0	.	.	.	.	X	691;718;691;718	.	ENSP00000347244:R718X	R	-	1	2	ITSN2	24348244	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.125000	0.64715	2.394000	0.81467	0.462000	0.41574	CGA		0.338	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		33	47	0	0	0	1	0	33	47				
ARHGEF28	64283	broad.mit.edu	37	5	73161801	73161801	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73161801G>A	ENST00000426542.2	+	17	2135	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	ARHGEF28_ENST00000296794.6_Silent_p.E705E|ARHGEF28_ENST00000296799.4_Silent_p.E392E|ARHGEF28_ENST00000437974.1_Silent_p.E705E|ARHGEF28_ENST00000545377.1_Silent_p.E705E|ARHGEF28_ENST00000513042.2_Silent_p.E705E|ARHGEF28_ENST00000287898.5_Silent_p.E705E			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	705					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AATTCCAAGAGAAATATAACA	0.284																																						ENST00000545377.1																			0											c.(2113-2115)gaG>gaA		Rho guanine nucleotide exchange factor (GEF) 28							43.0	42.0	42.0					5																	73161801		1797	4052	5849	SO:0001819	synonymous_variant	64283							g.chr5:73161801G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2115G>A	5.37:g.73161801G>A						ARHGEF28_ENST00000437974.1_Silent_p.E705E|ARHGEF28_ENST00000287898.5_Silent_p.E705E|ARHGEF28_ENST00000296794.6_Silent_p.E705E|ARHGEF28_ENST00000296799.4_Silent_p.E392E|ARHGEF28_ENST00000513042.2_Silent_p.E705E|ARHGEF28_ENST00000426542.2_Silent_p.E705E	p.E705E	NM_001080479.2	NP_001073948.2					18	2291	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	c.2115G>A	CCDS54870.1																																																																																				0.284	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			11	10	0	0	0	1	0	11	10				
CHD2	1106	broad.mit.edu	37	15	93534732	93534732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93534732G>A	ENST00000394196.4	+	27	4508	c.3440G>A	c.(3439-3441)gGt>gAt	p.G1147D	CHD2_ENST00000557381.1_Missense_Mutation_p.G1147D	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1147					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGTTTGGTCTCCCTCTT	0.308																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3439-3441)gGt>gAt		chromodomain helicase DNA binding protein 2							219.0	209.0	213.0					15																	93534732		2197	4297	6494	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93534732G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3440G>A	15.37:g.93534732G>A	ENSP00000377747:p.Gly1147Asp					CHD2_ENST00000557381.1_Missense_Mutation_p.G1147D	p.G1147D	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		27	4508	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1147					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3440G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246299	0.80024	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.78924	-1.22;-1.22	5.51	5.51	0.81932	.	0.000000	0.34555	U	0.003879	D	0.86965	0.6060	M	0.78456	2.415	0.80722	D	1	D;D	0.67145	0.982;0.996	P;D	0.65010	0.834;0.931	D	0.88231	0.2903	10	0.72032	D	0.01	-19.1239	14.9673	0.71204	0.0:0.1423:0.8577:0.0	.	1147;1147	O14647;O14647-2	CHD2_HUMAN;.	D	1147	ENSP00000377747:G1147D;ENSP00000451366:G1147D	ENSP00000377747:G1147D	G	+	2	0	CHD2	91335736	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.274000	0.78538	2.604000	0.88044	0.484000	0.47621	GGT		0.308	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		23	61	0	0	0	1	0	23	61				
PLXNB3	5365	broad.mit.edu	37	X	153034402	153034402	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153034402G>T	ENST00000361971.5	+	5	1380		c.e5-1		U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Splice_Site|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Splice_Site	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCACTCAGGTCTTTCTCC	0.627																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.e6-1		plexin B3							111.0	102.0	105.0					X																	153034402		2203	4300	6503	SO:0001630	splice_region_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153034402G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1267-1G>T	X.37:g.153034402G>T						PLXNB3_ENST00000361971.5_Splice_Site|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000538282.1_Intron		NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			6	1606	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)							B7Z3E6|F5H773|Q9HDA4	Splice_Site	SNP	ENST00000361971.5	37		CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154451	0.21371	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	.	.	.	5.27	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9721	0.35912	0.105:0.0:0.895:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNB3	152687596	0.936000	0.31750	0.991000	0.47740	0.163000	0.22366	1.427000	0.34881	0.996000	0.38943	-0.322000	0.08575	.		0.627	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		Intron	5	108	1	0	0.0293803	1	0.0301098	5	108				
APLNR	187	broad.mit.edu	37	11	57003773	57003773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57003773G>A	ENST00000606794.1	-	1	902	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	236					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCTCGATGCGTTCCTTGCGG	0.612																																						ENST00000606794.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(706-708)Cgc>Tgc		apelin receptor							98.0	82.0	88.0					11																	57003773		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003773G>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.706C>T	11.37:g.57003773G>A	ENSP00000475344:p.Arg236Cys						p.R236C	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	902	-			236						Missense_Mutation	SNP	ENST00000606794.1	37	c.706C>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775625	0.70107	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.40225	1.04	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.75615	2.305	0.53005	D	0.999967	D	0.89917	1.0	D	0.65874	0.939	T	0.64748	-0.6334	10	0.56958	D	0.05	-31.5793	14.778	0.69743	0.0:0.1442:0.8557:0.0	.	236	P35414	APJ_HUMAN	C	236;117;155	ENSP00000257254:R236C	ENSP00000257254:R236C	R	-	1	0	APLNR	56760349	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.803000	0.85983	2.627000	0.88993	0.650000	0.86243	CGC		0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		6	48	0	0	0	1	0	6	48				
MAGEE2	139599	broad.mit.edu	37	X	75004711	75004711	+	Missense_Mutation	SNP	G	G	T	rs140206798	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75004711G>T	ENST00000373359.2	-	1	368	c.176C>A	c.(175-177)tCc>tAc	p.S59Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	59										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGGCCTGGGAAGTGTTGAC	0.597													G|||	1	0.000264901	0.0	0.0014	3775	,	,		12929	0.0		0.0	False		,,,				2504	0.0					ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(175-177)tCc>tAc		melanoma antigen family E, 2		G	TYR/SER	0,3835		0,0,0,1632,571	39.0	36.0	37.0		176	-0.2	0.0	X	dbSNP_134	37	3,6725		0,2,1,2426,1871	yes	missense	MAGEE2	NM_138703.4	144	0,2,1,4058,2442	TT,TG,T,GG,G		0.0446,0.0,0.0284	benign	59/524	75004711	3,10560	2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004711G>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.176C>A	X.37:g.75004711G>T	ENSP00000362457:p.Ser59Tyr						p.S59Y	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	368	-			59					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.176C>A	CCDS14431.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.134	-1.110388	0.01813	0.0	4.46E-4	ENSG00000186675	ENST00000373359	T	0.04654	3.58	2.6	-0.254	0.12992	.	.	.	.	.	T	0.03011	0.0089	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43956	-0.9359	9	0.72032	D	0.01	.	2.2653	0.04077	0.3066:0.0:0.448:0.2454	.	59	Q8TD90	MAGE2_HUMAN	Y	59	ENSP00000362457:S59Y	ENSP00000362457:S59Y	S	-	2	0	MAGEE2	74921436	0.967000	0.33354	0.007000	0.13788	0.029000	0.11900	0.535000	0.23114	-0.171000	0.10797	0.509000	0.49947	TCC		0.597	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		27	31	1	0	4.59853e-10	1	5.63411e-10	27	31				
GAPT	202309	broad.mit.edu	37	5	57790694	57790694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57790694C>T	ENST00000396776.2	+	3	793	c.331C>T	c.(331-333)Cta>Tta	p.L111L	GAPT_ENST00000318469.2_Silent_p.L111L	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	111					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATAAGGAACTATATGAAAA	0.418																																						ENST00000396776.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(331-333)Cta>Tta		GRB2-binding adaptor protein, transmembrane							80.0	82.0	81.0					5																	57790694		2203	4300	6503	SO:0001819	synonymous_variant	202309				B cell activation	integral to membrane|plasma membrane		g.chr5:57790694C>T	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.331C>T	5.37:g.57790694C>T						GAPT_ENST00000318469.2_Silent_p.L111L	p.L111L	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN			3	793	+			111						Silent	SNP	ENST00000396776.2	37	c.331C>T	CCDS3975.1																																																																																				0.418	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	NM_152687		33	55	0	0	0	1	0	33	55				
EIF2S3	1968	broad.mit.edu	37	X	24084146	24084146	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24084146C>A	ENST00000253039.4	+	8	1057	c.804C>A	c.(802-804)ggC>ggA	p.G268G		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	268					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						ACAAACCTGGCTGTGAAGTTG	0.313																																						ENST00000253039.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(802-804)ggC>ggA		eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa							158.0	148.0	152.0					X																	24084146		2203	4300	6503	SO:0001819	synonymous_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24084146C>A	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.804C>A	X.37:g.24084146C>A							p.G268G	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN			8	1057	+			268					B5BTZ4	Silent	SNP	ENST00000253039.4	37	c.804C>A	CCDS14210.1																																																																																				0.313	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		9	196	1	0	2.17888e-05	1	2.45068e-05	9	196				
PHACTR1	221692	broad.mit.edu	37	6	13185202	13185202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185202C>T	ENST00000379345.2	+	5	642	c.401C>T	c.(400-402)cCc>cTc	p.P134L	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	512					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)			GCCCTGCCTCCCAAACCCACT	0.562																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(400-402)cCc>cTc		phosphatase and actin regulator 1							60.0	60.0	60.0					6																	13185202		876	1991	2867	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185202C>T	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	ENST00000379345.2:c.401C>T	6.37:g.13185202C>T	ENSP00000368650:p.Pro134Leu					PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron	p.P134L			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	642	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	512					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379345.2	37	c.401C>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.580632	0.86645	.	.	ENSG00000112137	ENST00000432934;ENST00000379345;ENST00000434977	.	.	.	6.11	5.23	0.72850	.	.	.	.	.	T	0.44095	0.1277	.	.	.	0.41869	D	0.990269	D	0.53619	0.961	P	0.44597	0.454	T	0.42531	-0.9446	6	.	.	.	.	16.4798	0.84155	0.0:0.8689:0.1311:0.0	.	279	E7ESR5	.	L	279;134;165	.	.	P	+	2	0	PHACTR1	13293181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.607000	0.74163	1.563000	0.49615	0.655000	0.94253	CCC		0.562	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		17	20	0	0	0	1	0	17	20				
MRPS28	28957	broad.mit.edu	37	8	80831363	80831363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80831363C>A	ENST00000276585.4	-	3	438	c.416G>T	c.(415-417)aGg>aTg	p.R139M	MRPS28_ENST00000521605.1_Missense_Mutation_p.Q78H|MRPS28_ENST00000521434.1_Missense_Mutation_p.R77M	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	139						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CAACCGGACCCTGGTTCCTTT	0.358																																						ENST00000276585.4																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(415-417)aGg>aTg		mitochondrial ribosomal protein S28							84.0	87.0	86.0					8																	80831363		2203	4300	6503	SO:0001583	missense	28957					mitochondrial small ribosomal subunit		g.chr8:80831363C>A	AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.416G>T	8.37:g.80831363C>A	ENSP00000276585:p.Arg139Met					MRPS28_ENST00000521434.1_Missense_Mutation_p.R77M|MRPS28_ENST00000521605.1_Missense_Mutation_p.Q78H	p.R139M	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)		3	438	-	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		139					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000276585.4	37	c.416G>T	CCDS6226.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.93|17.93|17.93	3.508455|3.508455|3.508455	0.64410|0.64410|0.64410	.|.|.	.|.|.	ENSG00000147586|ENSG00000147586|ENSG00000147586	ENST00000518271|ENST00000519386;ENST00000521605|ENST00000276585;ENST00000521434;ENST00000519120;ENST00000520946	.|.|T;T;T;T	.|.|0.51817	.|.|0.69;0.69;0.69;0.69	5.78|5.78|5.78	4.0|4.0|4.0	0.46444|0.46444|0.46444	.|.|RNA-binding domain, S1 (1);	.|.|0.368179	.|.|0.29565	.|.|N	.|.|0.011793	T|T|T	0.64216|0.64216|0.64216	0.2578|0.2578|0.2578	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.20638|0.20638|0.20638	N|N|N	0.999872|0.999872|0.999872	.|.|D	.|.|0.76494	.|.|0.999	.|.|D	.|.|0.66716	.|.|0.946	T|T|T	0.57505|0.57505|0.57505	-0.7800|-0.7800|-0.7800	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	9.7602|9.7602|9.7602	0.40528|0.40528|0.40528	0.0:0.7743:0.0:0.2257|0.0:0.7743:0.0:0.2257|0.0:0.7743:0.0:0.2257	.|.|.	.|.|139	.|.|Q9Y2Q9	.|.|RT28_HUMAN	W|H|M	162|94;78|139;77;57;77	.|.|ENSP00000276585:R139M;ENSP00000428880:R77M;ENSP00000428744:R57M;ENSP00000430401:R77M	.|.|ENSP00000276585:R139M	G|Q|R	-|-|-	1|3|2	0|2|0	MRPS28|MRPS28|MRPS28	80993918|80993918|80993918	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.857000|0.857000|0.857000	0.48899|0.48899|0.48899	0.717000|0.717000|0.717000	0.25851|0.25851|0.25851	0.781000|0.781000|0.781000	0.33589|0.33589|0.33589	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGG|CAG|AGG		0.358	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018		10	72	1	0	0.000442599	1	0.00048047	10	72				
SEMA3D	223117	broad.mit.edu	37	7	84666263	84666263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84666263C>T	ENST00000284136.6	-	10	1176	c.1133G>A	c.(1132-1134)aGt>aAt	p.S378N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	378	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATGGTCTGCACTTTCCTTATG	0.403																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1132-1134)aGt>aAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							136.0	119.0	125.0					7																	84666263		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84666263C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1133G>A	7.37:g.84666263C>T	ENSP00000284136:p.Ser378Asn					SEMA3D_ENST00000484038.1_5'UTR	p.S378N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			10	1176	-			378			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1133G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457890	0.96240	.	.	ENSG00000153993	ENST00000284136	T	0.23147	1.92	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.039360	0.85682	D	0.000000	T	0.33352	0.0860	L	0.35542	1.07	0.80722	D	1	D	0.54601	0.967	P	0.50082	0.63	T	0.02654	-1.1128	10	0.87932	D	0	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	378	O95025	SEM3D_HUMAN	N	378	ENSP00000284136:S378N	ENSP00000284136:S378N	S	-	2	0	SEMA3D	84504199	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.745000	0.85046	2.788000	0.95919	0.585000	0.79938	AGT		0.403	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		11	116	0	0	0	1	0	11	116				
SRRM2	23524	broad.mit.edu	37	16	2814401	2814401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814401C>T	ENST00000301740.8	+	11	4421	c.3872C>T	c.(3871-3873)gCt>gTt	p.A1291V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1291	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTCACAGGCTTCTTTGGAA	0.453																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3871-3873)gCt>gTt		serine/arginine repetitive matrix 2							118.0	124.0	122.0					16																	2814401		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814401C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3872C>T	16.37:g.2814401C>T	ENSP00000301740:p.Ala1291Val						p.A1291V	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4421	+			1291			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3872C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	0.700	-0.791211	0.02884	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.23754	1.89	5.29	1.18	0.20946	.	1.207200	0.05749	N	0.602728	T	0.12944	0.0314	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31194	-0.9952	10	0.54805	T	0.06	0.8994	7.8027	0.29185	0.0:0.5766:0.0:0.4234	.	1291	Q9UQ35	SRRM2_HUMAN	V	1291;1291;543	ENSP00000301740:A1291V	ENSP00000301740:A1291V	A	+	2	0	SRRM2	2754402	0.000000	0.05858	0.008000	0.14137	0.938000	0.57974	0.132000	0.15891	0.005000	0.14708	0.655000	0.94253	GCT		0.453	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			68	142	0	0	0	1	0	68	142				
DDX21	9188	broad.mit.edu	37	10	70723131	70723131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70723131G>A	ENST00000354185.4	+	4	790	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	RN7SL373P_ENST00000577512.1_RNA	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	231	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCACAGGCACGGACAGGAACT	0.473																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(691-693)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box helicase 21							146.0	126.0	133.0					10																	70723131		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70723131G>A	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.692G>A	10.37:g.70723131G>A	ENSP00000346120:p.Arg231Gln						p.R231Q	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			4	790	+			231			Helicase ATP-binding.		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.692G>A	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522724	0.96431	.	.	ENSG00000165732	ENST00000354185	T	0.54279	0.58	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	N	0.16478	0.41	0.80722	D	1	D	0.67145	0.996	P	0.57720	0.826	T	0.42447	-0.9451	10	0.14656	T	0.56	-1.0263	19.5444	0.95285	0.0:0.0:1.0:0.0	.	231	Q9NR30	DDX21_HUMAN	Q	231	ENSP00000346120:R231Q	ENSP00000346120:R231Q	R	+	2	0	DDX21	70393137	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	7.588000	0.82629	2.683000	0.91414	0.655000	0.94253	CGG		0.473	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		33	56	0	0	0	1	0	33	56				
FANCD2	2177	broad.mit.edu	37	3	10105596	10105596	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10105596G>T	ENST00000419585.1	+	21	2108		c.e21+1		FANCD2_ENST00000287647.3_Splice_Site|FANCD2_ENST00000383807.1_Splice_Site|FANCD2_ENST00000383806.1_Splice_Site			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAAGCCCTGGTAAAGCCAAT	0.423			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e21+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							79.0	76.0	77.0					3																	10105596		2203	4300	6503	SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10105596G>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1947+1G>T	3.37:g.10105596G>T						FANCD2_ENST00000419585.1_Splice_Site|FANCD2_ENST00000383807.1_Splice_Site|FANCD2_ENST00000383806.1_Splice_Site		NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	21	2040	+								Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	SNP	ENST00000419585.1	37		CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463925	0.63513	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.65	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9001	0.70672	0.0:0.144:0.856:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FANCD2	10080596	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	6.909000	0.75735	1.512000	0.48834	0.585000	0.79938	.		0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Intron	23	59	1	0	4.87955e-14	1	6.21198e-14	23	59				
UGT3A1	133688	broad.mit.edu	37	5	35954554	35954554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954554C>A	ENST00000274278.3	-	7	1679	c.1322G>T	c.(1321-1323)aGt>aTt	p.S441I	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	441						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGATGACACTGGCTGCCAC	0.587																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1321-1323)aGt>aTt		UDP glycosyltransferase 3 family, polypeptide A1							46.0	41.0	43.0					5																	35954554		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954554C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1322G>T	5.37:g.35954554C>A	ENSP00000274278:p.Ser441Ile						p.S441I	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1679	-	all_lung(31;0.000197)		441					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1322G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	12.40	1.925155	0.34002	.	.	ENSG00000145626	ENST00000274278	T	0.70986	-0.53	3.45	3.45	0.39498	.	0.132362	0.47093	U	0.000247	D	0.88028	0.6327	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91849	0.5490	10	0.87932	D	0	.	14.5578	0.68113	0.0:1.0:0.0:0.0	.	441	Q6NUS8	UD3A1_HUMAN	I	441	ENSP00000274278:S441I	ENSP00000274278:S441I	S	-	2	0	UGT3A1	35990311	0.943000	0.32029	0.857000	0.33713	0.003000	0.03518	2.910000	0.48766	1.881000	0.54492	0.411000	0.27672	AGT		0.587	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		6	29	1	0	0.0293803	1	0.0301098	6	29				
ITGA1	3672	broad.mit.edu	37	5	52227879	52227879	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52227879A>T	ENST00000282588.6	+	22	3232	c.2774A>T	c.(2773-2775)gAc>gTc	p.D925V	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	925					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.D925G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTCTAGTGACAGCGAAGAA	0.353																																						ENST00000282588.6																			1	Substitution - Missense(1)	p.D925G(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2773-2775)gAc>gTc		integrin, alpha 1							101.0	101.0	101.0					5																	52227879		2203	4299	6502	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52227879A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2774A>T	5.37:g.52227879A>T	ENSP00000282588:p.Asp925Val						p.D925V	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			22	3232	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	925					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.2774A>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873092	0.72180	.	.	ENSG00000213949	ENST00000282588	T	0.47177	0.85	5.77	5.77	0.91146	Integrin alpha-2 (1);	0.098697	0.64402	D	0.000002	T	0.62454	0.2429	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.60702	-0.7211	10	0.37606	T	0.19	.	12.7759	0.57448	1.0:0.0:0.0:0.0	.	925	P56199	ITA1_HUMAN	V	925	ENSP00000282588:D925V	ENSP00000282588:D925V	D	+	2	0	ITGA1	52263636	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.685000	0.68204	2.326000	0.78906	0.533000	0.62120	GAC		0.353	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		11	35	0	0	0	1	0	11	35				
TBL3	10607	broad.mit.edu	37	16	2027420	2027420	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2027420C>A	ENST00000568546.1	+	16	1863	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	579					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGCAGCTGCTGTCCAGGTG	0.657																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(1735-1737)Ctg>Atg		transducin (beta)-like 3							55.0	50.0	52.0					16																	2027420		2198	4300	6498	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2027420C>A	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1735C>A	16.37:g.2027420C>A	ENSP00000454836:p.Leu579Met						p.L579M	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			16	1863	+			579					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.1735C>A	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759243	0.49468	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.54	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	L	0.55213	1.73	0.47737	D	0.999503	P;P	0.52170	0.633;0.951	B;P	0.48368	0.403;0.575	T	0.60737	-0.7204	9	0.49607	T	0.09	-15.2788	12.149	0.54040	0.0:0.9199:0.0:0.0801	.	341;579	A0JLS5;Q12788	.;TBL3_HUMAN	M	579	.	ENSP00000331815:L579M	L	+	1	2	TBL3	1967421	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.538000	0.60650	1.327000	0.45338	0.561000	0.74099	CTG		0.657	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		16	26	1	0	7.07596e-05	1	7.86387e-05	16	26				
SNN	8303	broad.mit.edu	37	16	11769944	11769944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11769944C>T	ENST00000329565.5	+	2	241	c.29C>T	c.(28-30)aCg>aTg	p.T10M	TXNDC11_ENST00000570917.1_5'Flank	NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	10					response to abiotic stimulus (GO:0009628)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				endometrium(1)	1						AGCCCCACCACGGGCGTGGTC	0.637																																						ENST00000329565.5																			0				endometrium(1)	1						c.(28-30)aCg>aTg		stannin							51.0	44.0	46.0					16																	11769944		2197	4300	6497	SO:0001583	missense	8303				response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane		g.chr16:11769944C>T	AF030196	CCDS10549.1	16p13	2008-02-05			ENSG00000184602	ENSG00000184602			11149	protein-coding gene	gene with protein product		603032				9657854	Standard	NM_003498		Approved		uc002dbf.3	O75324	OTTHUMG00000090535	ENST00000329565.5:c.29C>T	16.37:g.11769944C>T	ENSP00000329287:p.Thr10Met						p.T10M	NM_003498.5	NP_003489.1	O75324	SNN_HUMAN			2	241	+			10					D3DUG4|Q6FGI0	Missense_Mutation	SNP	ENST00000329565.5	37	c.29C>T	CCDS10549.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033633	0.54896	.	.	ENSG00000184602	ENST00000329565	T	0.65178	-0.14	5.48	4.53	0.55603	Stannin transmembrane (1);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.82045	-0.0652	9	0.87932	D	0	-26.4852	13.5502	0.61728	0.0:0.9251:0.0:0.0749	.	10	O75324	SNN_HUMAN	M	10	ENSP00000329287:T10M	ENSP00000329287:T10M	T	+	2	0	SNN	11677445	1.000000	0.71417	0.933000	0.37362	0.998000	0.95712	6.557000	0.73937	1.306000	0.44926	0.561000	0.74099	ACG		0.637	SNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207059.1	NM_003498		14	21	0	0	0	1	0	14	21				
PPP1R15A	23645	broad.mit.edu	37	19	49376947	49376947	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49376947G>T	ENST00000200453.5	+	2	726	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	153					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GACACTGCAAGGTTCTGATAA	0.547																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(457-459)Ggt>Tgt		protein phosphatase 1, regulatory subunit 15A							137.0	129.0	132.0					19																	49376947		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376947G>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.457G>T	19.37:g.49376947G>T	ENSP00000200453:p.Gly153Cys						p.G153C	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	726	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	153			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.457G>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315298	0.81358	.	.	ENSG00000087074	ENST00000200453;ENST00000544084	T	0.08458	3.09	4.14	3.1	0.35709	.	1.651080	0.04378	N	0.360327	T	0.19485	0.0468	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	P	0.58577	0.841	T	0.15235	-1.0444	10	0.66056	D	0.02	-7.4663	7.9715	0.30130	0.1104:0.0:0.8896:0.0	.	153	O75807	PR15A_HUMAN	C	153;111	ENSP00000200453:G153C	ENSP00000200453:G153C	G	+	1	0	PPP1R15A	54068759	0.004000	0.15560	0.014000	0.15608	0.737000	0.42083	0.883000	0.28200	1.345000	0.45676	0.561000	0.74099	GGT		0.547	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		26	47	1	0	1.1804e-14	1	1.50872e-14	26	47				
KIAA0100	9703	broad.mit.edu	37	17	26962484	26962484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26962484C>T	ENST00000528896.2	-	16	2195	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E	KIAA0100_ENST00000544884.1_Silent_p.E564E|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.E564E|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	707						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCCTGAAGTCTCTAGTGCAA	0.537																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2119-2121)gaG>gaA		KIAA0100							94.0	87.0	89.0					17																	26962484		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26962484C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2121G>A	17.37:g.26962484C>T						KIAA0100_ENST00000389003.3_Silent_p.E564E|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.E564E	p.E707E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	2195	-	Lung NSC(42;0.00431)		707					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2121G>A	CCDS32595.1																																																																																				0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		25	42	0	0	0	1	0	25	42				
FLAD1	80308	broad.mit.edu	37	1	154962879	154962879	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154962879C>T	ENST00000292180.3	+	5	1751	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	FLAD1_ENST00000368428.1_Missense_Mutation_p.R18W|FLAD1_ENST00000315144.10_Missense_Mutation_p.R380W|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.R380W|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	477	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTGCAGGCACGGCACCCCCA	0.627																																						ENST00000292180.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(1429-1431)Cgg>Tgg		flavin adenine dinucleotide synthetase 1							56.0	60.0	59.0					1																	154962879		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962879C>T		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1429C>T	1.37:g.154962879C>T	ENSP00000292180:p.Arg477Trp					FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000368428.1_Missense_Mutation_p.R18W|FLAD1_ENST00000368432.1_Missense_Mutation_p.R380W|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.R380W|FLAD1_ENST00000295530.2_Intron	p.R477W	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	1751	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		477			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1429C>T	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550358	0.65311	.	.	ENSG00000160688	ENST00000315144;ENST00000368432;ENST00000292180;ENST00000368428	.	.	.	5.46	4.53	0.55603	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.515301	0.22238	N	0.062735	T	0.35770	0.0943	L	0.55990	1.75	0.25499	N	0.987571	D	0.65815	0.995	P	0.54372	0.75	T	0.18840	-1.0324	9	0.72032	D	0.01	-4.8796	10.6655	0.45728	0.1533:0.7081:0.1386:0.0	.	477	Q8NFF5	FAD1_HUMAN	W	380;380;477;18	.	ENSP00000292180:R477W	R	+	1	2	FLAD1	153229503	0.876000	0.30132	0.006000	0.13384	0.950000	0.60333	3.675000	0.54605	1.477000	0.48234	0.655000	0.94253	CGG		0.627	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		13	29	0	0	0	1	0	13	29				
ZFHX4	79776	broad.mit.edu	37	8	77766653	77766653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766653C>A	ENST00000521891.2	+	10	7944	c.7496C>A	c.(7495-7497)aCa>aAa	p.T2499K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2454K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2473K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2454K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATCAGTGTACAGTTGCCTTC	0.493										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7495-7497)aCa>aAa		zinc finger homeobox 4							166.0	178.0	174.0					8																	77766653		2062	4218	6280	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766653C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7496C>A	8.37:g.77766653C>A	ENSP00000430497:p.Thr2499Lys	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2473K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2454K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2454K	p.T2499K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7944	+			2454					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7496C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410911	0.25465	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.45867	U	0.000339	T	0.22820	0.0551	N	0.25485	0.75	0.48632	D	0.999686	B;B;B	0.20052	0.024;0.041;0.041	B;B;B	0.27262	0.035;0.078;0.078	T	0.05370	-1.0889	10	0.02654	T	1	.	18.3571	0.90361	0.0:1.0:0.0:0.0	.	2454;2454;2499	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2499;2483;2454;2454;2473	ENSP00000430497:T2499K;ENSP00000399605:T2454K;ENSP00000050961:T2454K;ENSP00000430848:T2473K	ENSP00000050961:T2454K	T	+	2	0	ZFHX4	77929208	1.000000	0.71417	0.955000	0.39395	0.991000	0.79684	6.158000	0.71851	2.569000	0.86673	0.650000	0.86243	ACA		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	88	1	0	0.00307968	1	0.00325696	8	88				
PHRF1	57661	broad.mit.edu	37	11	608157	608157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608157G>A	ENST00000264555.5	+	14	2829	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	PHRF1_ENST00000416188.2_Missense_Mutation_p.A900T|PHRF1_ENST00000413872.2_Missense_Mutation_p.A899T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A897T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	901					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.A906S(1)|p.A901S(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCGTCCTCCGCCATGTCCAA	0.692																																						ENST00000264555.5																			2	Substitution - Missense(2)	p.A906S(1)|p.A901S(1)	lung(2)	breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2701-2703)Gcc>Acc		PHD and ring finger domains 1							44.0	51.0	48.0					11																	608157		2014	4174	6188	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608157G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2701G>A	11.37:g.608157G>A	ENSP00000264555:p.Ala901Thr					PHRF1_ENST00000416188.2_Missense_Mutation_p.A900T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A897T|PHRF1_ENST00000413872.2_Missense_Mutation_p.A899T	p.A901T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2829	+			901					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2701G>A		.	.	.	.	.	.	.	.	.	.	G	0.008	-1.922145	0.00498	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.19	-8.38	0.00973	.	1.263190	0.05638	N	0.582933	T	0.04952	0.0133	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.32929	-0.9888	10	0.02654	T	1	-0.004	7.956	0.30042	0.3096:0.2393:0.4511:0.0	.	897;899;900;901	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	T	901;899;900;897	ENSP00000264555:A901T;ENSP00000388589:A899T;ENSP00000410626:A900T;ENSP00000431870:A897T	ENSP00000264555:A901T	A	+	1	0	PHRF1	598157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.643000	0.05421	-2.483000	0.00521	-1.532000	0.00920	GCC		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		29	37	0	0	0	1	0	29	37				
PDE1C	5137	broad.mit.edu	37	7	31855724	31855724	+	Missense_Mutation	SNP	C	C	T	rs267601486		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31855724C>T	ENST00000396191.1	-	15	2082	c.1627G>A	c.(1627-1629)Gca>Aca	p.A543T	PDE1C_ENST00000321453.7_Missense_Mutation_p.A543T|PDE1C_ENST00000396184.3_Missense_Mutation_p.A543T|PDE1C_ENST00000396193.1_Missense_Mutation_p.A603T|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.A543T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	543					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A543S(2)|p.A603S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGCTCCTCTGCGGCCAGGCGA	0.502																																						ENST00000396184.3																			3	Substitution - Missense(3)	p.A543S(2)|p.A603S(1)	lung(3)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1627-1629)Gca>Aca		phosphodiesterase 1C, calmodulin-dependent 70kDa							153.0	147.0	149.0					7																	31855724		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855724C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1627G>A	7.37:g.31855724C>T	ENSP00000379494:p.Ala543Thr					PDE1C_ENST00000396182.2_Missense_Mutation_p.A543T|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A543T|PDE1C_ENST00000396193.1_Missense_Mutation_p.A603T|PDE1C_ENST00000396191.1_Missense_Mutation_p.A543T	p.A543T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		16	1831	-			543					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1627G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571756	0.45798	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72942	-0.69;-0.7;-0.7;-0.68;-0.68	5.34	5.34	0.76211	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.534800	0.20589	N	0.089392	T	0.49150	0.1540	N	0.12182	0.205	0.42552	D	0.993111	B;B;B	0.21147	0.022;0.052;0.052	B;B;B	0.12837	0.008;0.005;0.005	T	0.46843	-0.9162	10	0.34782	T	0.22	.	7.5856	0.27991	0.0:0.7474:0.1674:0.0852	.	543;603;543	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	T	603;543;543;543;543	ENSP00000379496:A603T;ENSP00000379494:A543T;ENSP00000318105:A543T;ENSP00000379487:A543T;ENSP00000379485:A543T	ENSP00000318105:A543T	A	-	1	0	PDE1C	31822249	0.880000	0.30214	0.933000	0.37362	0.957000	0.61999	1.788000	0.38714	2.779000	0.95612	0.655000	0.94253	GCA		0.502	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			10	180	0	0	0	1	0	10	180				
VWA7	80737	broad.mit.edu	37	6	31742304	31742304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31742304G>A	ENST00000375688.4	-	5	910	c.710C>T	c.(709-711)cCg>cTg	p.P237L	VWA7_ENST00000375686.3_Missense_Mutation_p.P237L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.P237L			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	237						extracellular region (GO:0005576)											TGGAGGTTTCGGGGGATGAGT	0.542																																						ENST00000375686.3																			0											c.(709-711)cCg>cTg		von Willebrand factor A domain containing 7							87.0	81.0	83.0					6																	31742304		1509	2709	4218	SO:0001583	missense	80737					extracellular region		g.chr6:31742304G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.710C>T	6.37:g.31742304G>A	ENSP00000364840:p.Pro237Leu					VWA7_ENST00000375688.4_Missense_Mutation_p.P237L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.P237L	p.P237L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			5	947	-			237					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.710C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411233	0.42817	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.34072	2.59;2.37;1.38	5.51	4.64	0.57946	.	0.805979	0.11732	N	0.534823	T	0.18718	0.0449	L	0.47716	1.5	0.37727	D	0.925127	B	0.15719	0.014	B	0.14578	0.011	T	0.06899	-1.0801	10	0.66056	D	0.02	-6.3867	10.3627	0.44003	0.0906:0.0:0.9094:0.0	.	237	Q9Y334	G7C_HUMAN	L	237	ENSP00000364840:P237L;ENSP00000364838:P237L;ENSP00000390554:P237L	ENSP00000364838:P237L	P	-	2	0	C6orf27	31850283	0.819000	0.29175	0.943000	0.38184	0.527000	0.34593	2.494000	0.45329	1.456000	0.47831	0.655000	0.94253	CCG		0.542	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		8	36	0	0	0	1	0	8	36				
ATP11B	23200	broad.mit.edu	37	3	182585172	182585172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182585172T>C	ENST00000323116.5	+	15	1888	c.1628T>C	c.(1627-1629)aTt>aCt	p.I543T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	543					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGGATTGGTATTGTGTTTATT	0.289																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1627-1629)aTt>aCt		ATPase, class VI, type 11B							145.0	146.0	145.0					3																	182585172		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182585172T>C	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1628T>C	3.37:g.182585172T>C	ENSP00000321195:p.Ile543Thr						p.I543T	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		15	1888	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		543					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.1628T>C	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804773	0.70682	.	.	ENSG00000058063	ENST00000323116	T	0.65178	-0.14	5.56	5.56	0.83823	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.300323	0.30051	N	0.010527	T	0.64702	0.2622	M	0.74389	2.26	0.80722	D	1	B;B	0.29136	0.234;0.014	B;B	0.30029	0.11;0.043	T	0.67329	-0.5698	10	0.87932	D	0	.	14.5272	0.67897	0.0:0.0:0.0:1.0	.	117;543	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	T	543	ENSP00000321195:I543T	ENSP00000321195:I543T	I	+	2	0	ATP11B	184067866	1.000000	0.71417	0.391000	0.26233	0.803000	0.45373	6.010000	0.70753	2.107000	0.64212	0.386000	0.25728	ATT		0.289	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		7	54	0	0	0	1	0	7	54				
INPP4A	3631	broad.mit.edu	37	2	99182579	99182579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99182579G>A	ENST00000523221.1	+	20	2382	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	INPP4A_ENST00000409463.1_Silent_p.V123V|INPP4A_ENST00000074304.5_Silent_p.V794V|INPP4A_ENST00000409016.4_Silent_p.V755V|INPP4A_ENST00000409851.3_Silent_p.V789V|INPP4A_ENST00000545415.1_Silent_p.V755V|INPP4A_ENST00000409540.3_Silent_p.V755V|INPP4A_ENST00000467042.1_3'UTR			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	794					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGCGAGTGCAGCCCGTCC	0.667																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(2380-2382)gtG>gtA		inositol polyphosphate-4-phosphatase, type I, 107kDa							16.0	19.0	18.0					2																	99182579		2021	4174	6195	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99182579G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2382G>A	2.37:g.99182579G>A						INPP4A_ENST00000409463.1_Silent_p.V123V|INPP4A_ENST00000409016.3_Silent_p.V755V|INPP4A_ENST00000409540.3_Silent_p.V755V|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000545415.1_Silent_p.V755V|INPP4A_ENST00000523221.1_Silent_p.V794V|INPP4A_ENST00000409851.3_Silent_p.V789V	p.V794V	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			22	2775	+			794					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.2382G>A	CCDS46369.1																																																																																				0.667	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		4	4	0	0	0	1	0	4	4				
C17orf75	64149	broad.mit.edu	37	17	30666927	30666927	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30666927G>A	ENST00000577809.1	-	3	301	c.252C>T	c.(250-252)tcC>tcT	p.S84S	C17orf75_ENST00000225805.4_Silent_p.S84S|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	84										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCCACTTCGGATGGTAGAT	0.458																																						ENST00000577809.1																			0				ovary(1)	1						c.(250-252)tcC>tcT		chromosome 17 open reading frame 75							92.0	89.0	90.0					17																	30666927		1927	4142	6069	SO:0001819	synonymous_variant	64149				spermatogenesis			g.chr17:30666927G>A	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.252C>T	17.37:g.30666927G>A						C17orf75_ENST00000225805.4_Silent_p.S84S|RP11-227G15.3_ENST00000581915.1_RNA	p.S84S	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	301	-		Breast(31;0.116)|Ovarian(249;0.182)	84					Q7Z2H4	Silent	SNP	ENST00000577809.1	37	c.252C>T	CCDS58537.1																																																																																				0.458	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		28	49	0	0	0	1	0	28	49				
PLCB3	5331	broad.mit.edu	37	11	64026160	64026160	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64026160C>A	ENST00000540288.1	+	11	1331	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	PLCB3_ENST00000325234.5_Missense_Mutation_p.L343I|PLCB3_ENST00000279230.6_Missense_Mutation_p.L410I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	410	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCGTCATCCTCTCCTTCGA	0.602																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1228-1230)Ctc>Atc		phospholipase C, beta 3 (phosphatidylinositol-specific)							100.0	87.0	91.0					11																	64026160		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026160C>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1228C>A	11.37:g.64026160C>A	ENSP00000443631:p.Leu410Ile					PLCB3_ENST00000325234.5_Missense_Mutation_p.L343I|PLCB3_ENST00000279230.6_Missense_Mutation_p.L410I	p.L410I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			11	1331	+			410			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1228C>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438309	0.62955	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.61859	0.07;0.07;0.07	4.72	3.77	0.43336	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.070615	0.56097	N	0.000023	T	0.68650	0.3024	M	0.61703	1.905	0.58432	D	0.999996	D;P	0.76494	0.999;0.865	D;D	0.87578	0.998;0.937	T	0.68599	-0.5366	10	0.72032	D	0.01	.	6.7126	0.23286	0.1788:0.7287:0.0:0.0924	.	343;410	G5E960;Q01970	.;PLCB3_HUMAN	I	410;410;343	ENSP00000279230:L410I;ENSP00000443631:L410I;ENSP00000324660:L343I	ENSP00000279230:L410I	L	+	1	0	PLCB3	63782736	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	5.954000	0.70298	0.926000	0.37118	0.305000	0.20034	CTC		0.602	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			22	35	1	0	1.85244e-09	1	2.25385e-09	22	35				
KCNJ5	3762	broad.mit.edu	37	11	128781759	128781759	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781759G>A	ENST00000338350.4	+	3	943	c.591G>A	c.(589-591)gcG>gcA	p.A197A	KCNJ5_ENST00000533599.1_Silent_p.A197A|KCNJ5_ENST00000529694.1_Silent_p.A197A			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	197					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGAAGAGAGCGGAGACCCTCA	0.567																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(589-591)gcG>gcA		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						136.0	135.0	135.0					11																	128781759		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781759G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.591G>A	11.37:g.128781759G>A						KCNJ5_ENST00000533599.1_Silent_p.A197A|KCNJ5_ENST00000338350.4_Silent_p.A197A	p.A197A	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	967	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	197					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.591G>A	CCDS8479.1																																																																																				0.567	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		52	55	0	0	0	1	0	52	55				
FCGBP	8857	broad.mit.edu	37	19	40368705	40368705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40368705C>T	ENST00000221347.6	-	28	12650	c.12643G>A	c.(12643-12645)Ggg>Agg	p.G4215R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4215	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGCAGAGCCCGCACACTGCG	0.607																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12643-12645)Ggg>Agg		Fc fragment of IgG binding protein							232.0	234.0	234.0					19																	40368705		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368705C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12643G>A	19.37:g.40368705C>T	ENSP00000221347:p.Gly4215Arg						p.G4215R	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12650	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4215			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12643G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389374	0.61956	.	.	ENSG00000090920	ENST00000221347	D	0.98732	-5.1	3.92	3.92	0.45320	von Willebrand factor, type D domain (3);	.	.	.	.	D	0.99462	0.9809	H	0.98111	4.15	0.43531	D	0.995816	D	0.89917	1.0	D	0.87578	0.998	D	0.97905	1.0305	9	0.87932	D	0	.	15.2045	0.73169	0.0:1.0:0.0:0.0	.	4215	Q9Y6R7	FCGBP_HUMAN	R	4215	ENSP00000221347:G4215R	ENSP00000221347:G4215R	G	-	1	0	FCGBP	45060545	1.000000	0.71417	0.997000	0.53966	0.217000	0.24651	5.840000	0.69402	2.201000	0.70794	0.305000	0.20034	GGG		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	177	0	0	0	1	0	5	177				
CRHBP	1393	broad.mit.edu	37	5	76254685	76254685	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:76254685C>A	ENST00000274368.4	+	5	1086	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	CRHBP_ENST00000514258.1_3'UTR|CRHBP_ENST00000506501.1_Missense_Mutation_p.L222M	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	222					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGATCTTACCCTGGGACACGT	0.413																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(664-666)Ctg>Atg		corticotropin releasing hormone binding protein							100.0	83.0	89.0					5																	76254685		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76254685C>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.664C>A	5.37:g.76254685C>A	ENSP00000274368:p.Leu222Met					CRHBP_ENST00000514258.1_3'UTR|CRHBP_ENST00000506501.1_Missense_Mutation_p.L222M	p.L222M	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	5	1086	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	222					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.664C>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380654	0.61845	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	.	.	.	5.22	4.22	0.49857	.	0.000000	0.64402	D	0.000001	T	0.77605	0.4155	M	0.78801	2.425	0.54753	D	0.999986	D;D	0.89917	1.0;0.973	D;P	0.97110	1.0;0.866	T	0.80190	-0.1485	9	0.72032	D	0.01	-1.2594	12.3287	0.55026	0.0:0.8841:0.0:0.1159	.	222;222	D6RHH7;P24387	.;CRHBP_HUMAN	M	222	.	ENSP00000274368:L222M	L	+	1	2	CRHBP	76290441	0.557000	0.26546	0.997000	0.53966	0.773000	0.43773	1.006000	0.29847	2.415000	0.81967	0.455000	0.32223	CTG		0.413	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		13	39	1	0	5.50884e-06	1	6.28354e-06	13	39				
RWDD2B	10069	broad.mit.edu	37	21	30378931	30378931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30378931C>T	ENST00000493196.1	-	5	867	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	256										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AATGTCTTCTCGATGGCGAAT	0.318																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.(766-768)cGa>cAa		RWD domain containing 2B							77.0	71.0	73.0					21																	30378931		2203	4300	6503	SO:0001583	missense	10069							g.chr21:30378931C>T	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.767G>A	21.37:g.30378931C>T	ENSP00000418693:p.Arg256Gln					RWDD2B_ENST00000486719.1_5'UTR	p.R256Q	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN			5	867	-			256						Missense_Mutation	SNP	ENST00000493196.1	37	c.767G>A	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577772	0.65878	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.45	2.71	0.32032	Domain of unknown function DUF1115 (1);	0.104650	0.64402	N	0.000008	T	0.63414	0.2509	M	0.84433	2.695	0.43947	D	0.996612	P;P	0.52061	0.95;0.728	P;B	0.47206	0.541;0.082	T	0.63350	-0.6657	9	0.26408	T	0.33	-2.7556	11.2253	0.48880	0.0:0.8018:0.0:0.1982	.	256;256	Q53FD2;P57060	.;RWD2B_HUMAN	Q	256	.	ENSP00000418693:R256Q	R	-	2	0	RWDD2B	29300802	1.000000	0.71417	0.995000	0.50966	0.574000	0.36063	5.578000	0.67450	0.441000	0.26529	-0.802000	0.03209	CGA		0.318	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			5	16	0	0	0	1	0	5	16				
MYO5B	4645	broad.mit.edu	37	18	47479645	47479645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47479645G>A	ENST00000285039.7	-	14	2036	c.1737C>T	c.(1735-1737)atC>atT	p.I579I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	579	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTTCAGGATATTGATCT	0.537																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1735-1737)atC>atT		myosin VB							134.0	131.0	132.0					18																	47479645		2026	4162	6188	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47479645G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1737C>T	18.37:g.47479645G>A							p.I579I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	14	2036	-			579			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.1737C>T	CCDS42436.1																																																																																				0.537	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			17	26	0	0	0	1	0	17	26				
CSF1R	1436	broad.mit.edu	37	5	149439387	149439387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149439387C>T	ENST00000286301.3	-	15	2299	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	670	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGAGCAGGTCGCCATAGCAA	0.612																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2008-2010)Gac>Aac		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						80.0	73.0	75.0					5																	149439387		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149439387C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2008G>A	5.37:g.149439387C>T	ENSP00000286301:p.Asp670Asn					CSF1R_ENST00000515239.1_5'UTR	p.D670N	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	2299	-			670			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2008G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874235	0.97055	.	.	ENSG00000182578	ENST00000286301	D	0.90133	-2.62	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000023	D	0.90317	0.6971	N	0.04655	-0.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92924	0.6358	10	0.87932	D	0	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	670	P07333	CSF1R_HUMAN	N	670	ENSP00000286301:D670N	ENSP00000286301:D670N	D	-	1	0	CSF1R	149419580	1.000000	0.71417	0.968000	0.41197	0.941000	0.58515	5.948000	0.70249	2.815000	0.96918	0.561000	0.74099	GAC		0.612	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		19	38	0	0	0	1	0	19	38				
HRNR	388697	broad.mit.edu	37	1	152191231	152191231	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152191231T>C	ENST00000368801.2	-	3	2949	c.2874A>G	c.(2872-2874)gaA>gaG	p.E958E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	958					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGTGTTGTTCGTAGCTGG	0.552																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2872-2874)gaA>gaG		hornerin							281.0	272.0	275.0					1																	152191231		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191231T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2874A>G	1.37:g.152191231T>C						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E958E	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2949	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		958					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2874A>G	CCDS30859.1																																																																																				0.552	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		18	206	0	0	0	1	0	18	206				
SERPINI2	5276	broad.mit.edu	37	3	167189515	167189515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167189515C>A	ENST00000476257.1	-	3	406	c.108G>T	c.(106-108)gaG>gaT	p.E36D	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E36D|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E36D|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E36D			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	36					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATAAGGAAACCTCTTGATAAA	0.398																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(106-108)gaG>gaT		serpin peptidase inhibitor, clade I (pancpin), member 2							153.0	154.0	154.0					3																	167189515		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189515C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.108G>T	3.37:g.167189515C>A	ENSP00000420621:p.Glu36Asp					SERPINI2_ENST00000471111.1_Missense_Mutation_p.E36D|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E36D|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E36D	p.E36D			O75830	SPI2_HUMAN			3	406	-			36						Missense_Mutation	SNP	ENST00000476257.1	37	c.108G>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	3.366	-0.129476	0.06753	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.7	-5.02	0.02982	Serpin domain (3);	0.520623	0.20754	N	0.086286	T	0.70945	0.3282	L	0.48174	1.505	0.09310	N	1	B;B	0.27625	0.183;0.08	B;B	0.30105	0.111;0.078	T	0.58194	-0.7679	10	0.26408	T	0.33	.	1.1194	0.01722	0.2662:0.1148:0.3232:0.2958	.	36;36	B4DDY9;O75830	.;SPI2_HUMAN	D	36	ENSP00000420621:E36D;ENSP00000417692:E36D;ENSP00000264677:E36D;ENSP00000419407:E36D;ENSP00000417752:E36D;ENSP00000419255:E36D	ENSP00000264677:E36D	E	-	3	2	SERPINI2	168672209	0.007000	0.16637	0.010000	0.14722	0.018000	0.09664	-0.025000	0.12413	-0.767000	0.04633	-0.893000	0.02921	GAG		0.398	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		18	112	1	0	3.41278e-10	1	4.19267e-10	18	112				
EPHA4	2043	broad.mit.edu	37	2	222365844	222365844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222365844G>A	ENST00000281821.2	-	4	913	c.872C>T	c.(871-873)gCc>gTc	p.A291V	EPHA4_ENST00000392071.4_Missense_Mutation_p.A240V|EPHA4_ENST00000409938.1_Missense_Mutation_p.A291V|EPHA4_ENST00000409854.1_Missense_Mutation_p.A291V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	291	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGGCACTTGGCACAGGTGGC	0.507																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(871-873)gCc>gTc		EPH receptor A4							91.0	82.0	85.0					2																	222365844		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222365844G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.872C>T	2.37:g.222365844G>A	ENSP00000281821:p.Ala291Val					EPHA4_ENST00000392071.4_Missense_Mutation_p.A240V|EPHA4_ENST00000409854.1_Missense_Mutation_p.A291V|EPHA4_ENST00000409938.1_Missense_Mutation_p.A291V	p.A291V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	4	913	-		Renal(207;0.0183)	291			Cys-rich.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.872C>T	CCDS2447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.106778|3.106778	0.56291|0.56291	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071|ENST00000441679	T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.103168|.	0.64402|.	D|.	0.000003|.	T|T	0.67116|0.67116	0.2859|0.2859	L|L	0.35793|0.35793	1.09|1.09	0.47153|0.47153	D|D	0.999333|0.999333	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.59273|0.59273	-0.7485|-0.7485	10|5	0.34782|.	T|.	0.22|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	291|.	P54764|.	EPHA4_HUMAN|.	V|S	291;291;291;240|28	ENSP00000281821:A291V;ENSP00000386276:A291V;ENSP00000386829:A291V;ENSP00000375923:A240V|.	ENSP00000281821:A291V|.	A|P	-|-	2|1	0|0	EPHA4|EPHA4	222074088|222074088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.655000|7.655000	0.83696|0.83696	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.507	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			20	46	0	0	0	1	0	20	46				
TNPO3	23534	broad.mit.edu	37	7	128641137	128641137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641137G>A	ENST00000265388.5	-	6	991	c.848C>T	c.(847-849)gCc>gTc	p.A283V	TNPO3_ENST00000393245.1_Missense_Mutation_p.A283V|TNPO3_ENST00000482320.1_Missense_Mutation_p.A217V|TNPO3_ENST00000471234.1_Missense_Mutation_p.A283V|TNPO3_ENST00000471166.1_Missense_Mutation_p.A283V			Q9Y5L0	TNPO3_HUMAN	transportin 3	283					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ACGTGCCACGGCCATATGATA	0.428																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(847-849)gCc>gTc		transportin 3							168.0	146.0	153.0					7																	128641137		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128641137G>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.848C>T	7.37:g.128641137G>A	ENSP00000265388:p.Ala283Val					TNPO3_ENST00000471234.1_Missense_Mutation_p.A283V|TNPO3_ENST00000471166.1_Missense_Mutation_p.A283V|TNPO3_ENST00000265388.5_Missense_Mutation_p.A283V|TNPO3_ENST00000482320.1_Missense_Mutation_p.A217V	p.A283V	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			6	1221	-			283					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.848C>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412595	0.96072	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	L	0.41492	1.28	0.80722	D	1	P;D;D	0.63046	0.93;0.992;0.98	P;P;P	0.58210	0.625;0.835;0.729	T	0.10359	-1.0633	10	0.51188	T	0.08	.	17.8363	0.88699	0.0:0.0:1.0:0.0	.	283;283;283	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	V	283;283;217;283;283	ENSP00000376936:A283V;ENSP00000265388:A283V;ENSP00000420089:A217V;ENSP00000418646:A283V;ENSP00000418267:A283V	ENSP00000265388:A283V	A	-	2	0	TNPO3	128428373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.736000	0.98828	2.890000	0.99128	0.650000	0.86243	GCC		0.428	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		44	105	0	0	0	1	0	44	105				
MAN1A2	10905	broad.mit.edu	37	1	117945001	117945001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117945001G>T	ENST00000356554.3	+	2	1231	c.496G>T	c.(496-498)Gga>Tga	p.G166*	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	166					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAACCTTGTAGGAATACGTGG	0.383																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.(496-498)Gga>Tga		mannosidase, alpha, class 1A, member 2							74.0	76.0	75.0					1																	117945001		2203	4300	6503	SO:0001587	stop_gained	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117945001G>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.496G>T	1.37:g.117945001G>T	ENSP00000348959:p.Gly166*					MAN1A2_ENST00000482811.1_Intron	p.G166*	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1231	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	166					Q9H510	Nonsense_Mutation	SNP	ENST00000356554.3	37	c.496G>T	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	44	11.125889	0.99519	.	.	ENSG00000198162	ENST00000356554	.	.	.	5.76	5.76	0.90799	.	0.172208	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-20.7243	17.4522	0.87595	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	ENSP00000348959:G166X	G	+	1	0	MAN1A2	117746524	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	9.311000	0.96282	2.717000	0.92951	0.655000	0.94253	GGA		0.383	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		29	39	1	0	4.65686e-17	1	6.02554e-17	29	39				
MASP1	5648	broad.mit.edu	37	3	186943254	186943254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186943254G>A	ENST00000337774.5	-	13	1988	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	533	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTTTGACGCCGAGATGCTGTT	0.532																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1597-1599)ctC>ctT		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							248.0	229.0	236.0					3																	186943254		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186943254G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1599C>T	3.37:g.186943254G>A							p.L533L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	13	1988	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		533			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1599C>T	CCDS33907.1																																																																																				0.532	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		10	130	0	0	0	1	0	10	130				
C3	718	broad.mit.edu	37	19	6686756	6686756	+	Splice_Site	SNP	C	C	T	rs113847049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6686756C>T	ENST00000245907.6	-	28	3739		c.e28+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCAACCCTCACCTTTGGCTGT	0.552																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.e28+1		complement component 3							190.0	188.0	189.0					19																	6686756		2203	4300	6503	SO:0001630	splice_region_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6686756C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3646+1G>A	19.37:g.6686756C>T								NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	28	3739	-								A7E236	Splice_Site	SNP	ENST00000245907.6	37		CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642790	0.67244	.	.	ENSG00000125730	ENST00000245907	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1221	0.89574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3	6637756	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.576000	0.60915	2.871000	0.98454	0.655000	0.94253	.		0.552	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Intron	99	175	0	0	0	1	0	99	175				
KLHL42	57542	broad.mit.edu	37	12	27944687	27944687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27944687G>A	ENST00000381271.2	+	2	1230	c.919G>A	c.(919-921)Gga>Aga	p.G307R		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	307					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G307R(1)									CTATGCCATCGGAGGGCAGGC	0.478																																						ENST00000381271.2																			1	Substitution - Missense(1)	p.G307R(1)	endometrium(1)								c.(919-921)Gga>Aga		kelch-like family member 42							213.0	204.0	207.0					12																	27944687		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27944687G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.919G>A	12.37:g.27944687G>A	ENSP00000370671:p.Gly307Arg						p.G307R	NM_020782.1	NP_065833.1					2	1230	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.919G>A	CCDS31763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.907550|4.907550	0.92107|0.92107	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000381271|ENST00000543254	D|.	0.98777|.	-5.13|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Kelch-type beta propeller (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90504|0.90504	0.7025|0.7025	H|H	0.98664|0.98664	4.295|4.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94190|0.94190	0.7440|0.7440	10|5	0.87932|.	D|.	0|.	.|.	17.1803|17.1803	0.86853|0.86853	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307|.	Q9P2K6|.	KLDC5_HUMAN|.	R|Q	307|128	ENSP00000370671:G307R|.	ENSP00000370671:G307R|.	G|R	+|+	1|2	0|0	KLHDC5|KLHDC5	27835954|27835954	1.000000|1.000000	0.71417|0.71417	0.800000|0.800000	0.32199|0.32199	0.975000|0.975000	0.68041|0.68041	9.069000|9.069000	0.93967|0.93967	2.505000|2.505000	0.84491|0.84491	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.478	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		80	126	0	0	0	1	0	80	126				
COL9A2	1298	broad.mit.edu	37	1	40777351	40777351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40777351C>A	ENST00000372748.3	-	9	550	c.454G>T	c.(454-456)Gga>Tga	p.G152*		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	152	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGGGGGTCCTGGGGGCCCC	0.607																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(454-456)Gga>Tga		collagen, type IX, alpha 2							44.0	55.0	51.0					1																	40777351		2201	4296	6497	SO:0001587	stop_gained	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40777351C>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.454G>T	1.37:g.40777351C>A	ENSP00000361834:p.Gly152*						p.G152*	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		9	550	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	152			Triple-helical region 4 (COL4).		B2RMP9	Nonsense_Mutation	SNP	ENST00000372748.3	37	c.454G>T	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.90|10.90	1.480554|1.480554	0.26598|0.26598	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748;ENST00000372736|ENST00000417105	.|.	.|.	.|.	5.93|5.93	5.02|5.02	0.67125|0.67125	.|.	0.105839|.	0.64402|.	D|.	0.000005|.	.|T	.|0.56381	.|0.1981	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66232	.|-0.5975	.|3	0.87932|.	D|.	0|.	.|.	11.1016|11.1016	0.48177|0.48177	0.0:0.9154:0.0:0.0846|0.0:0.9154:0.0:0.0846	.|.	.|.	.|.	.|.	X|M	152;81|140	.|.	ENSP00000361821:G81X|.	G|R	-|-	1|2	0|0	COL9A2|COL9A2	40549938|40549938	1.000000|1.000000	0.71417|0.71417	0.207000|0.207000	0.23584|0.23584	0.000000|0.000000	0.00434|0.00434	6.277000|6.277000	0.72608|0.72608	1.508000|1.508000	0.48769|0.48769	-0.140000|-0.140000	0.14226|0.14226	GGA|AGG		0.607	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		10	89	1	0	2.74318e-10	1	3.37541e-10	10	89				
SAMM50	25813	broad.mit.edu	37	22	44360381	44360381	+	Missense_Mutation	SNP	A	A	G	rs373727761		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44360381A>G	ENST00000350028.4	+	3	339	c.182A>G	c.(181-183)gAt>gGt	p.D61G	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_5'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	61					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTAAAGATGATATCATCATT	0.398																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(181-183)gAt>gGt		SAMM50 sorting and assembly machinery component		A	GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	246.0	215.0	225.0		182	5.0	0.9	22		225	0,8600		0,0,4300	no	missense	SAMM50	NM_015380.4	94	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	61/470	44360381	1,13005	2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44360381A>G	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.182A>G	22.37:g.44360381A>G	ENSP00000345445:p.Asp61Gly					SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	p.D61G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			3	339	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	61					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.182A>G	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872137	0.91587	2.27E-4	0.0	ENSG00000100347	ENST00000350028	T	0.31510	1.49	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.83384	2.64	0.80722	D	1	D	0.64830	0.994	P	0.58210	0.835	T	0.59343	-0.7472	9	.	.	.	-35.0789	14.1252	0.65215	1.0:0.0:0.0:0.0	.	61	Q9Y512	SAM50_HUMAN	G	61	ENSP00000345445:D61G	.	D	+	2	0	SAMM50	42691714	1.000000	0.71417	0.916000	0.36221	0.993000	0.82548	8.030000	0.88816	1.987000	0.57996	0.460000	0.39030	GAT		0.398	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		23	80	0	0	0	1	0	23	80				
LAMA3	3909	broad.mit.edu	37	18	21492725	21492725	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21492725G>A	ENST00000313654.9	+	56	7450	c.7209G>A	c.(7207-7209)ctG>ctA	p.L2403L	LAMA3_ENST00000399516.3_Silent_p.L2347L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.L794L|LAMA3_ENST00000587184.1_Silent_p.L738L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2403	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAGTCCGACTGCCAAATGACC	0.438																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7207-7209)ctG>ctA		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						111.0	109.0	110.0					18																	21492725		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21492725G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7209G>A	18.37:g.21492725G>A						LAMA3_ENST00000399516.3_Silent_p.L2347L|LAMA3_ENST00000587184.1_Silent_p.L738L|LAMA3_ENST00000269217.6_Silent_p.L794L|LAMA3_ENST00000588770.1_3'UTR	p.L2403L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			56	7450	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2403			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.7209G>A	CCDS42419.1																																																																																				0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		23	42	0	0	0	1	0	23	42				
ACSBG2	81616	broad.mit.edu	37	19	6183213	6183213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6183213G>A	ENST00000586696.1	+	10	1528	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.E368K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E418K|ACSBG2_ENST00000588485.1_Missense_Mutation_p.E231K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	418					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTATAGGCGAGTTGTATGG	0.537																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1102-1104)Gag>Aag		acyl-CoA synthetase bubblegum family member 2							79.0	78.0	78.0					19																	6183213		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6183213G>A		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1252G>A	19.37:g.6183213G>A	ENSP00000465589:p.Glu418Lys					ACSBG2_ENST00000586696.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E418K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000588485.1_Missense_Mutation_p.E231K	p.E368K			Q5FVE4	ACBG2_HUMAN			10	1548	+			418					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.1102G>A	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548750	0.86127	.	.	ENSG00000130377	ENST00000252669	T	0.12465	2.68	5.04	2.83	0.33086	AMP-dependent synthetase/ligase (1);	0.188247	0.26122	N	0.026220	T	0.46502	0.1396	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.981;0.981	T	0.58978	-0.7540	10	0.48119	T	0.1	-44.1184	13.9382	0.64039	0.0:0.2912:0.7088:0.0	.	418;418	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	K	418	ENSP00000252669:E418K	ENSP00000252669:E418K	E	+	1	0	ACSBG2	6134213	1.000000	0.71417	0.015000	0.15790	0.203000	0.24098	3.594000	0.54008	0.487000	0.27698	0.650000	0.86243	GAG		0.537	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		18	44	0	0	0	1	0	18	44				
USP12	219333	broad.mit.edu	37	13	27649407	27649407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27649407G>A	ENST00000282344.6	-	7	1109	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	285	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTAAACAGACGAAGTTCTAAA	0.423																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(853-855)Cgt>Tgt		ubiquitin specific peptidase 12							93.0	84.0	87.0					13																	27649407		2203	4300	6503	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27649407G>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.853C>T	13.37:g.27649407G>A	ENSP00000282344:p.Arg285Cys						p.R285C	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	7	1109	-		Lung SC(185;0.0161)	285					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.853C>T	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751695	0.69533	.	.	ENSG00000152484	ENST00000282344	T	0.33216	1.42	5.41	5.41	0.78517	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.70513	-0.4851	10	0.87932	D	0	-12.5543	19.5583	0.95363	0.0:0.0:1.0:0.0	.	285	O75317	UBP12_HUMAN	C	285	ENSP00000282344:R285C	ENSP00000282344:R285C	R	-	1	0	USP12	26547407	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	5.410000	0.66381	2.699000	0.92147	0.460000	0.39030	CGT		0.423	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		16	34	0	0	0	1	0	16	34				
MYH4	4622	broad.mit.edu	37	17	10355428	10355428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10355428C>T	ENST00000255381.2	-	27	3678	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1190					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCGTGGCTTCGTGCTGCAGG	0.582																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3568-3570)Gaa>Aaa		myosin, heavy chain 4, skeletal muscle							81.0	78.0	79.0					17																	10355428		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355428C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3568G>A	17.37:g.10355428C>T	ENSP00000255381:p.Glu1190Lys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1190K	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3678	-			1190						Missense_Mutation	SNP	ENST00000255381.2	37	c.3568G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541991	0.85917	.	.	ENSG00000141048	ENST00000255381	D	0.86297	-2.1	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.38492	U	0.001679	D	0.95887	0.8661	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.96768	0.9566	10	0.87932	D	0	.	19.7768	0.96398	0.0:1.0:0.0:0.0	.	1190	Q9Y623	MYH4_HUMAN	K	1190	ENSP00000255381:E1190K	ENSP00000255381:E1190K	E	-	1	0	MYH4	10296153	1.000000	0.71417	0.961000	0.40146	0.641000	0.38312	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	GAA		0.582	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		38	39	0	0	0	1	0	38	39				
RANBP1	5902	broad.mit.edu	37	22	20109792	20109792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20109792C>T	ENST00000331821.3	+	3	260	c.158C>T	c.(157-159)gCa>gTa	p.A53V	RANBP1_ENST00000402752.1_Missense_Mutation_p.A53V|RANBP1_ENST00000430524.1_5'UTR	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	53	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGCAGGCGGGCAAAACTGTTC	0.577																																						ENST00000402752.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(157-159)gCa>gTa		RAN binding protein 1							75.0	64.0	68.0					22																	20109792		2203	4300	6503	SO:0001583	missense	5902				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding	g.chr22:20109792C>T	D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.158C>T	22.37:g.20109792C>T	ENSP00000327583:p.Ala53Val					RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_Missense_Mutation_p.A53V	p.A53V	NM_001278640.1	NP_001265569.1	P43487	RANG_HUMAN			3	384	+	Colorectal(54;0.0993)		53			RanBD1.		Q53EY3	Missense_Mutation	SNP	ENST00000331821.3	37	c.158C>T	CCDS13775.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766523	0.90020	.	.	ENSG00000099901	ENST00000432879;ENST00000402752;ENST00000447917;ENST00000331821;ENST00000411892;ENST00000416427;ENST00000421656;ENST00000423859;ENST00000418705	T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.38	5.38	0.77491	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.82063	-0.0643	10	0.49607	T	0.09	-23.4457	19.1214	0.93365	0.0:1.0:0.0:0.0	.	53;53;53	B4DE76;Q53EY3;P43487	.;.;RANG_HUMAN	V	130;53;53;53;53;3;3;3;3	ENSP00000404724:A130V;ENSP00000384925:A53V;ENSP00000327583:A53V;ENSP00000395472:A53V;ENSP00000404126:A3V;ENSP00000400940:A3V;ENSP00000404298:A3V;ENSP00000413502:A3V	ENSP00000327583:A53V	A	+	2	0	RANBP1	18489792	1.000000	0.71417	0.996000	0.52242	0.366000	0.29705	7.629000	0.83207	2.514000	0.84764	0.557000	0.71058	GCA		0.577	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882		10	22	0	0	0	1	0	10	22				
USP32	84669	broad.mit.edu	37	17	58260799	58260799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58260799G>A	ENST00000300896.4	-	31	4044	c.3850C>T	c.(3850-3852)Cga>Tga	p.R1284*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R954*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1284	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGAAATCGCTTAAGGTGA	0.343																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3850-3852)Cga>Tga		ubiquitin specific peptidase 32							61.0	68.0	66.0					17																	58260799		2202	4299	6501	SO:0001587	stop_gained	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58260799G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3850C>T	17.37:g.58260799G>A	ENSP00000300896:p.Arg1284*					USP32_ENST00000592339.1_Nonsense_Mutation_p.R954*	p.R1284*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		31	4044	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1284					Q7Z5T3|Q9BX85|Q9Y591	Nonsense_Mutation	SNP	ENST00000300896.4	37	c.3850C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	44	10.735746	0.99459	.	.	ENSG00000170832	ENST00000300896	.	.	.	5.81	3.8	0.43715	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6558	0.68833	0.0:0.0:0.4972:0.5028	.	.	.	.	X	1284	.	ENSP00000300896:R1284X	R	-	1	2	USP32	55615581	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.052000	0.57420	0.771000	0.33359	-0.133000	0.14855	CGA		0.343	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		37	42	0	0	0	1	0	37	42				
CEBPE	1053	broad.mit.edu	37	14	23587828	23587828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23587828G>A	ENST00000206513.5	-	1	997	c.473C>T	c.(472-474)aCt>aTt	p.T158I		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	158					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGCTGCCAGAGTTGGGGGCAG	0.682																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(472-474)aCt>aTt		CCAAT/enhancer binding protein (C/EBP), epsilon							17.0	19.0	18.0					14																	23587828		2199	4294	6493	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23587828G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.473C>T	14.37:g.23587828G>A	ENSP00000206513:p.Thr158Ile						p.T158I	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	997	-	all_cancers(95;4.6e-05)		158					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.473C>T	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661273	0.29515	.	.	ENSG00000092067	ENST00000206513	T	0.32988	1.43	5.22	2.16	0.27623	.	0.490331	0.22824	N	0.055183	T	0.23886	0.0578	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.26710	-1.0095	10	0.62326	D	0.03	-4.1839	16.2177	0.82239	0.0:0.5072:0.4928:0.0	.	158	Q15744	CEBPE_HUMAN	I	158	ENSP00000206513:T158I	ENSP00000206513:T158I	T	-	2	0	CEBPE	22657668	0.511000	0.26179	0.520000	0.27837	0.966000	0.64601	0.740000	0.26188	0.538000	0.28769	0.561000	0.74099	ACT		0.682	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		3	13	0	0	0	1	0	3	13				
MYH3	4621	broad.mit.edu	37	17	10535318	10535318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10535318G>T	ENST00000583535.1	-	35	5059	c.4972C>A	c.(4972-4974)Ctg>Atg	p.L1658M	MYH3_ENST00000226209.7_Missense_Mutation_p.L1658M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1658					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCATCATCCAGGTGGAGCTGC	0.567																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(4972-4974)Ctg>Atg		myosin, heavy chain 3, skeletal muscle, embryonic							32.0	31.0	32.0					17																	10535318		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10535318G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4972C>A	17.37:g.10535318G>T	ENSP00000464317:p.Leu1658Met					MYH3_ENST00000226209.7_Missense_Mutation_p.L1658M	p.L1658M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			35	5059	-			1658					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4972C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357127	0.61293	.	.	ENSG00000109063	ENST00000226209	T	0.80566	-1.39	3.94	3.94	0.45596	Myosin tail (1);	.	.	.	.	D	0.87861	0.6284	M	0.81942	2.565	0.32708	N	0.51201	P	0.35468	0.503	P	0.56648	0.803	D	0.88874	0.3335	9	0.49607	T	0.09	.	8.0718	0.30693	0.1571:0.0:0.8429:0.0	.	1658	P11055	MYH3_HUMAN	M	1658	ENSP00000226209:L1658M	ENSP00000226209:L1658M	L	-	1	2	MYH3	10476043	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.464000	0.35288	2.200000	0.70718	0.655000	0.94253	CTG		0.567	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		4	37	1	0	0.00024832	1	0.0002712	4	37				
RP1L1	94137	broad.mit.edu	37	8	10465534	10465534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465534G>A	ENST00000382483.3	-	4	6297	c.6074C>T	c.(6073-6075)gCc>gTc	p.A2025V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2105	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTGGCTGGGCCTCTACACC	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6073-6075)gCc>gTc		retinitis pigmentosa 1-like 1							170.0	189.0	182.0					8																	10465534		2083	4203	6286	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465534G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6074C>T	8.37:g.10465534G>A	ENSP00000371923:p.Ala2025Val						p.A2025V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6297	-			2025					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6074C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	8.971	0.972934	0.18736	.	.	ENSG00000183638	ENST00000382483	T	0.04360	3.64	1.35	0.068	0.14368	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.25884	0.064	T	0.47433	-0.9118	9	0.30078	T	0.28	.	4.0014	0.09582	0.0:0.1891:0.4026:0.4083	.	2025	A6NKC6	.	V	2025	ENSP00000371923:A2025V	ENSP00000371923:A2025V	A	-	2	0	RP1L1	10502944	0.000000	0.05858	0.010000	0.14722	0.028000	0.11728	-1.422000	0.02453	-0.266000	0.09339	0.465000	0.42564	GCC		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			89	125	0	0	0	1	0	89	125				
SIL1	64374	broad.mit.edu	37	5	138362650	138362650	+	Missense_Mutation	SNP	C	C	T	rs138300781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138362650C>T	ENST00000394817.2	-	6	624	c.485G>A	c.(484-486)cGc>cAc	p.R162H	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.R162H|SIL1_ENST00000509534.1_Missense_Mutation_p.R169H	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	162	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCAATGGGGCGGAAGAGCCG	0.473									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(484-486)cGc>cAc		SIL1 nucleotide exchange factor		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	90.0	85.0	86.0		485,485	5.6	1.0	5	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	SIL1	NM_001037633.1,NM_022464.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	162/462,162/462	138362650	2,13004	2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138362650C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.485G>A	5.37:g.138362650C>T	ENSP00000378294:p.Arg162His					SIL1_ENST00000509534.1_Missense_Mutation_p.R169H|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.R162H	p.R162H	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	624	-			162			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.485G>A	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420477	0.96111	0.0	2.33E-4	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534;ENST00000508639	T;T;T;T	0.80994	-0.83;-0.83;-0.84;-1.44	5.58	5.58	0.84498	.	0.107484	0.64402	D	0.000008	D	0.86222	0.5881	M	0.81802	2.56	0.50813	D	0.999896	D;P	0.62365	0.991;0.953	P;P	0.49361	0.608;0.476	D	0.87548	0.2463	10	0.54805	T	0.06	-13.5481	19.158	0.93518	0.0:1.0:0.0:0.0	.	169;162	D6REA1;Q9H173	.;SIL1_HUMAN	H	162;162;169;162	ENSP00000378294:R162H;ENSP00000265195:R162H;ENSP00000426858:R169H;ENSP00000427371:R162H	ENSP00000265195:R162H	R	-	2	0	SIL1	138390549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.215000	0.72206	2.626000	0.88956	0.555000	0.69702	CGC		0.473	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		15	20	0	0	0	1	0	15	20				
KLHL10	317719	broad.mit.edu	37	17	40004288	40004288	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40004288A>T	ENST00000293303.4	+	5	1709	c.1556A>T	c.(1555-1557)aAt>aTt	p.N519I	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	519					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CCTCGTAGCAATTTTGGCATC	0.478																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1555-1557)aAt>aTt		kelch-like family member 10							143.0	136.0	138.0					17																	40004288		1966	4152	6118	SO:0001583	missense	317719					cytoplasm		g.chr17:40004288A>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1556A>T	17.37:g.40004288A>T	ENSP00000293303:p.Asn519Ile						p.N519I	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			5	1709	+		Breast(137;0.000162)	519					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1556A>T	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252982	0.80135	.	.	ENSG00000161594	ENST00000293303	T	0.79352	-1.26	5.98	5.98	0.97165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	M	0.91459	3.21	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	D	0.92182	0.5752	9	.	.	.	.	15.2936	0.73885	1.0:0.0:0.0:0.0	.	519	Q6JEL2	KLH10_HUMAN	I	519	ENSP00000293303:N519I	.	N	+	2	0	KLHL10	37257814	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.806000	0.91930	2.289000	0.77006	0.482000	0.46254	AAT		0.478	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		36	45	0	0	0	1	0	36	45				
SH2B1	25970	broad.mit.edu	37	16	28877767	28877767	+	Missense_Mutation	SNP	G	G	A	rs267604496		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28877767G>A	ENST00000322610.8	+	4	791	c.352G>A	c.(352-354)Gct>Act	p.A118T	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.A118T|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.A118T|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.A118T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	118	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGGGCCCCTGGCTGTGCTGGG	0.637																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(352-354)Gct>Act		SH2B adaptor protein 1							40.0	38.0	39.0					16																	28877767		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877767G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.352G>A	16.37:g.28877767G>A	ENSP00000321221:p.Ala118Thr					SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.A118T|SH2B1_ENST00000359285.5_Missense_Mutation_p.A118T|SH2B1_ENST00000395532.4_Missense_Mutation_p.A118T|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron	p.A118T	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			1	3643	+			118			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.352G>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018094	0.35606	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.24	2.07	0.26955	.	0.306378	0.25338	N	0.031388	T	0.19446	0.0467	N	0.08118	0	0.26251	N	0.978724	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.14896	-1.0456	10	0.25751	T	0.34	-38.0325	7.94	0.29952	0.1019:0.0:0.7318:0.1663	.	118;118;118	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	T	118	ENSP00000321221:A118T;ENSP00000352232:A118T;ENSP00000378903:A118T;ENSP00000337163:A118T	ENSP00000321221:A118T	A	+	1	0	SH2B1	28785268	0.015000	0.18098	0.997000	0.53966	0.963000	0.63663	0.583000	0.23849	0.996000	0.38943	0.436000	0.28706	GCT		0.637	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		3	33	0	0	0	1	0	3	33				
SFPQ	6421	broad.mit.edu	37	1	35654958	35654958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35654958C>T	ENST00000357214.5	-	5	1539	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	481					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCATGCTGGGCAAAACGAGGA	0.393			T	TFE3	papillary renal cell																																	ENST00000357214.5				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1441-1443)Gcc>Acc		splicing factor proline/glutamine-rich							65.0	60.0	61.0					1																	35654958		2203	4300	6503	SO:0001583	missense	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35654958C>T	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1441G>A	1.37:g.35654958C>T	ENSP00000349748:p.Ala481Thr						p.A481T	NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN			5	1539	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	481					P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	c.1441G>A	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	36	5.826207	0.96996	.	.	ENSG00000116560	ENST00000357214	T	0.40756	1.02	5.84	5.84	0.93424	NOPS (1);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.73075	-0.4097	10	0.87932	D	0	-15.5381	20.1346	0.98019	0.0:1.0:0.0:0.0	.	481	P23246	SFPQ_HUMAN	T	481	ENSP00000349748:A481T	ENSP00000349748:A481T	A	-	1	0	SFPQ	35427545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.977000	0.70492	2.765000	0.95021	0.655000	0.94253	GCC		0.393	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		12	20	0	0	0	1	0	12	20				
AADACL4	343066	broad.mit.edu	37	1	12711226	12711226	+	Missense_Mutation	SNP	C	C	T	rs200551069		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12711226C>T	ENST00000376221.1	+	2	253	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	85						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAAAAAGGACCCTGAACTTGT	0.483																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(253-255)Cct>Tct		arylacetamide deacetylase-like 4							100.0	98.0	99.0					1																	12711226		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12711226C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.253C>T	1.37:g.12711226C>T	ENSP00000365395:p.Pro85Ser						p.P85S	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	253	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	85						Missense_Mutation	SNP	ENST00000376221.1	37	c.253C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427776	0.25726	.	.	ENSG00000204518	ENST00000376221	T	0.04406	3.63	4.9	1.92	0.25849	.	0.538678	0.17228	N	0.182050	T	0.04588	0.0125	L	0.45352	1.415	0.09310	N	1	B	0.24483	0.104	B	0.21708	0.036	T	0.40289	-0.9571	10	0.31617	T	0.26	-0.5147	6.5357	0.22352	0.0:0.6658:0.1586:0.1756	.	85	Q5VUY2	ADCL4_HUMAN	S	85	ENSP00000365395:P85S	ENSP00000365395:P85S	P	+	1	0	AADACL4	12633813	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.449000	0.21744	0.098000	0.17522	0.462000	0.41574	CCT		0.483	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		32	58	0	0	0	1	0	32	58				
TCHH	7062	broad.mit.edu	37	1	152082939	152082939	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082939G>A	ENST00000368804.1	-	2	2753	c.2754C>T	c.(2752-2754)cgC>cgT	p.R918R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	918	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCTTCTCGCGCTCCTCTC	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2752-2754)cgC>cgT		trichohyalin							124.0	133.0	130.0					1																	152082939		2105	4227	6332	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082939G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2754C>T	1.37:g.152082939G>A							p.R918R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2753	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		918			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.2754C>T	CCDS41396.1																																																																																				0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		88	83	0	0	0	1	0	88	83				
MED12L	116931	broad.mit.edu	37	3	150883718	150883718	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150883718G>T	ENST00000474524.1	+	10	1481	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	MED12L_ENST00000422248.2_Missense_Mutation_p.E481D|MED12L_ENST00000309237.4_Missense_Mutation_p.E481D|MED12L_ENST00000273432.4_Missense_Mutation_p.E341D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	481						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCATGGAGACACTTTATC	0.353																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1441-1443)gaG>gaT		mediator complex subunit 12-like							118.0	114.0	115.0					3																	150883718		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150883718G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1443G>T	3.37:g.150883718G>T	ENSP00000417235:p.Glu481Asp					MED12L_ENST00000309237.4_Missense_Mutation_p.E481D|MED12L_ENST00000422248.2_Missense_Mutation_p.E481D|MED12L_ENST00000273432.4_Missense_Mutation_p.E341D	p.E481D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		10	1481	+			481					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1443G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147804	0.21288	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.59	4.71	0.59529	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.054521	0.64402	D	0.000001	T	0.06280	0.0162	N	0.01640	-0.785	0.38470	D	0.947444	B;B;B;P	0.40794	0.006;0.008;0.003;0.729	B;B;B;B	0.38264	0.007;0.022;0.007;0.269	T	0.31024	-0.9958	10	0.09843	T	0.71	-28.4018	7.1807	0.25770	0.1511:0.1415:0.7074:0.0	.	341;481;481;481	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	D	481;481;481;341	ENSP00000403308:E481D;ENSP00000310760:E481D;ENSP00000417235:E481D;ENSP00000273432:E341D	ENSP00000273432:E341D	E	+	3	2	MED12L	152366408	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.618000	0.36954	1.350000	0.45770	0.655000	0.94253	GAG		0.353	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		10	108	1	0	9.70103e-10	1	1.18443e-09	10	108				
UBE2J2	118424	broad.mit.edu	37	1	1192381	1192381	+	Silent	SNP	C	C	T	rs375664850		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1192381C>T	ENST00000349431.6	-	5	624	c.405G>A	c.(403-405)tcG>tcA	p.S135S	UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400930.4_Silent_p.S151S|UBE2J2_ENST00000360466.2_Silent_p.S135S|UBE2J2_ENST00000339385.6_Silent_p.S100S|UBE2J2_ENST00000348298.7_Silent_p.S83S|UBE2J2_ENST00000400929.2_Silent_p.S83S|UBE2J2_ENST00000347370.2_Silent_p.S83S	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	135					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTGAAGTCCGACGTCTCTA	0.577																																						ENST00000347370.2																			0				cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(247-249)tcG>tcA		ubiquitin-conjugating enzyme E2, J2		C	,,,	0,4406		0,0,2203	72.0	77.0	75.0		405,453,249,249	-3.0	0.4	1		75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UBE2J2	NM_058167.2,NM_194315.1,NM_194457.1,NM_194458.1	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	135/260,151/276,83/208,83/208	1192381	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1192381C>T	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.405G>A	1.37:g.1192381C>T						UBE2J2_ENST00000349431.6_Silent_p.S135S|UBE2J2_ENST00000400929.2_Silent_p.S83S|UBE2J2_ENST00000360466.2_Silent_p.S135S|UBE2J2_ENST00000339385.6_Silent_p.S100S|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000348298.7_Silent_p.S83S|UBE2J2_ENST00000400930.4_Silent_p.S151S	p.S83S	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	5	722	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	135					A8MYC7|Q504T9|Q96N26|Q96T84	Silent	SNP	ENST00000349431.6	37	c.249G>A	CCDS14.1																																																																																				0.577	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		33	63	0	0	0	1	0	33	63				
C12orf10	60314	broad.mit.edu	37	12	53700890	53700890	+	Missense_Mutation	SNP	G	G	A	rs138116397	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53700890G>A	ENST00000267103.5	+	7	1140	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000548632.1_Missense_Mutation_p.R288H|C12orf10_ENST00000549488.1_Missense_Mutation_p.R200H	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	363					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						AGCATGGCCCGTGCCACCTTG	0.567																																						ENST00000267103.5																			0				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.(1087-1089)cGt>cAt		chromosome 12 open reading frame 10		G	HIS/ARG	0,4406		0,0,2203	83.0	80.0	81.0		1088	4.2	1.0	12	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C12orf10	NM_021640.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	363/377	53700890	2,13004	2203	4300	6503	SO:0001583	missense	60314							g.chr12:53700890G>A	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.1088G>A	12.37:g.53700890G>A	ENSP00000267103:p.Arg363His					C12orf10_ENST00000548632.1_Missense_Mutation_p.R288H|C12orf10_ENST00000549488.1_Missense_Mutation_p.R200H	p.R363H	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN			7	1140	+			363						Missense_Mutation	SNP	ENST00000267103.5	37	c.1088G>A	CCDS31810.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580258	0.86645	0.0	2.33E-4	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.44881	0.91;0.91;0.91	5.03	4.15	0.48705	.	0.062950	0.64402	N	0.000004	T	0.41488	0.1161	L	0.39633	1.23	0.80722	D	1	D;P	0.56035	0.974;0.693	B;P	0.48901	0.357;0.594	T	0.38286	-0.9668	10	0.62326	D	0.03	-9.0966	11.836	0.52323	0.0849:0.0:0.9151:0.0	.	312;363	F5H641;Q9HB07	.;MYG1_HUMAN	H	363;248;312;288;200	ENSP00000267103:R363H;ENSP00000450270:R288H;ENSP00000448433:R200H	ENSP00000267103:R363H	R	+	2	0	C12orf10	51987157	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.225000	0.58600	1.504000	0.48704	-0.126000	0.14955	CGT		0.567	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		6	69	0	0	0	1	0	6	69				
FAM154B	283726	broad.mit.edu	37	15	82563946	82563946	+	Missense_Mutation	SNP	C	C	T	rs145916991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82563946C>T	ENST00000339465.5	+	2	125	c.56C>T	c.(55-57)tCg>tTg	p.S19L	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000565432.1_Missense_Mutation_p.S32L|FAM154B_ENST00000427381.2_Missense_Mutation_p.S4L	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	19								p.S19L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATTTCAGGTCGGATTATTGT	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17054	0.0		0.0	False		,,,				2504	0.0					ENST00000339465.5																			1	Substitution - Missense(1)	p.S19L(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(55-57)tCg>tTg		family with sequence similarity 154, member B		C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	49.0	48.0	49.0		56	3.1	0.9	15	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM154B	NM_001008226.1	145	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	19/399	82563946	3,13003	2203	4300	6503	SO:0001583	missense	283726							g.chr15:82563946C>T	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.56C>T	15.37:g.82563946C>T	ENSP00000340445:p.Ser19Leu					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.S4L|FAM154B_ENST00000565432.1_Missense_Mutation_p.S32L	p.S19L	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			2	125	+			19					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.56C>T	CCDS32310.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.00	2.997362	0.54147	4.54E-4	1.16E-4	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.20738	2.24;2.05	4.98	3.06	0.35304	.	0.096722	0.43416	D	0.000574	T	0.35682	0.0940	M	0.70595	2.14	0.36911	D	0.890886	D;D	0.69078	0.997;0.994	P;P	0.56127	0.776;0.792	T	0.31943	-0.9925	10	0.25106	T	0.35	-1.4387	13.1995	0.59758	0.0:0.8151:0.1156:0.0693	.	4;19	B4E2M2;Q658L1	.;F154B_HUMAN	L	19;4	ENSP00000340445:S19L;ENSP00000403743:S4L	ENSP00000340445:S19L	S	+	2	0	FAM154B	80351001	1.000000	0.71417	0.908000	0.35775	0.933000	0.57130	4.134000	0.57990	0.235000	0.21160	-1.094000	0.02160	TCG		0.323	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		15	16	0	0	0	1	0	15	16				
GIPR	2696	broad.mit.edu	37	19	46181440	46181440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46181440C>T	ENST00000590918.1	+	12	1207	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	GIPR_ENST00000304207.8_Missense_Mutation_p.R334C|GIPR_ENST00000263281.3_Missense_Mutation_p.R370C	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	370				GALRF -> APCV (in Ref. 3; CAA57426). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGGCGCCCTGCGCTTCGCCAA	0.677																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(1108-1110)Cgc>Tgc		gastric inhibitory polypeptide receptor							19.0	17.0	18.0					19																	46181440		2199	4298	6497	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46181440C>T		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1108C>T	19.37:g.46181440C>T	ENSP00000467494:p.Arg370Cys					GIPR_ENST00000304207.8_Missense_Mutation_p.R334C|GIPR_ENST00000263281.3_Missense_Mutation_p.R370C	p.R370C	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	12	1207	+		Ovarian(192;0.051)|all_neural(266;0.112)	370	GALRF -> APCV (in Ref. 3; CAA57426).				B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.1108C>T	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110395	0.77210	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.46819	0.86;0.86	4.1	4.1	0.47936	GPCR, family 2-like (1);	0.000000	0.47455	D	0.000239	T	0.71434	0.3339	M	0.91972	3.26	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.76528	-0.2926	10	0.87932	D	0	.	9.1322	0.36852	0.218:0.782:0.0:0.0	.	334;370;370	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	C	370;334	ENSP00000263281:R370C;ENSP00000305321:R334C	ENSP00000263281:R370C	R	+	1	0	GIPR	50873280	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.529000	0.67135	2.104000	0.64026	0.313000	0.20887	CGC		0.677	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			5	6	0	0	0	1	0	5	6				
GRIP1	23426	broad.mit.edu	37	12	66859167	66859167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66859167C>T	ENST00000398016.3	-	8	828	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	GRIP1_ENST00000359742.4_Missense_Mutation_p.E254K|GRIP1_ENST00000286445.7_Missense_Mutation_p.E254K	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGGCAACTTCGACTAGTAGT	0.408																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(760-762)Gaa>Aaa		glutamate receptor interacting protein 1							99.0	93.0	95.0					12																	66859167		1875	4107	5982	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66859167C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.760G>A	12.37:g.66859167C>T	ENSP00000381098:p.Glu254Lys					GRIP1_ENST00000398016.3_Missense_Mutation_p.E254K|GRIP1_ENST00000286445.7_Missense_Mutation_p.E254K	p.E254K			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	8	1000	-			254			PDZ 3.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.760G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.862097|4.862097	0.91511|0.91511	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000543172	T;T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;0.93;0.93|.	5.64|5.64	5.64|5.64	0.86602|0.86602	PDZ/DHR/GLGF (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75693|0.75693	0.3884|0.3884	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.995;1.0;1.0|.	D;D;D|.	0.91635|.	0.923;0.999;0.999|.	T|T	0.72308|0.72308	-0.4332|-0.4332	9|5	.|.	.|.	.|.	-26.7587|-26.7587	20.0981|20.0981	0.97857|0.97857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	254;254;254|.	F5H4N6;Q9Y3R0;Q9Y3R0-3|.	.;GRIP1_HUMAN;.|.	K|Q	254;254;254;254;198;198|74	ENSP00000381098:E254K;ENSP00000352780:E254K;ENSP00000286445:E254K;ENSP00000446047:E254K;ENSP00000446024:E198K;ENSP00000446011:E198K|.	.|.	E|R	-|-	1|2	0|0	GRIP1|GRIP1	65145434|65145434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.825000|0.825000	0.46686|0.46686	7.678000|7.678000	0.84035|0.84035	2.838000|2.838000	0.97847|0.97847	0.511000|0.511000	0.50034|0.50034	GAA|CGA		0.408	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			24	45	0	0	0	1	0	24	45				
RAD17	5884	broad.mit.edu	37	5	68687668	68687668	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68687668C>T	ENST00000509734.1	+	12	1728	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	RAD17_ENST00000380774.3_Silent_p.N350N|RAD17_ENST00000354868.5_Silent_p.N339N|RAD17_ENST00000361732.2_Silent_p.N339N|RAD17_ENST00000282891.6_Silent_p.N253N|RAD17_ENST00000354312.3_Silent_p.N339N|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Silent_p.N174N|RAD17_ENST00000305138.4_Silent_p.N339N|RAD17_ENST00000358030.2_Silent_p.N174N|RAD17_ENST00000345306.6_Silent_p.N339N			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	350					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAGAAAACAACTTACGGCCAA	0.289								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1048-1050)aaC>aaT	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							50.0	57.0	54.0					5																	68687668		2203	4300	6503	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68687668C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1050C>T	5.37:g.68687668C>T						RAD17_ENST00000282891.6_Silent_p.N253N|RAD17_ENST00000305138.4_Silent_p.N339N|RAD17_ENST00000354312.3_Silent_p.N339N|RAD17_ENST00000358030.2_Silent_p.N174N|RAD17_ENST00000380774.3_Silent_p.N350N|RAD17_ENST00000361732.2_Silent_p.N339N|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Silent_p.N174N|RAD17_ENST00000345306.6_Silent_p.N339N|RAD17_ENST00000354868.5_Silent_p.N339N	p.N350N			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	12	1728	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	350					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.1050C>T	CCDS4003.1																																																																																				0.289	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		10	71	0	0	0	1	0	10	71				
CXorf56	63932	broad.mit.edu	37	X	118694317	118694317	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118694317G>T	ENST00000371594.4	-	2	234	c.156C>A	c.(154-156)ccC>ccA	p.P52P	CXorf56_ENST00000536133.1_Silent_p.P52P|CXorf56_ENST00000320339.4_Silent_p.P3P	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	52										cervix(1)|endometrium(2)|lung(7)	10						ACCGGTCCCGGGGCCTCATGG	0.458																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(7-9)ccC>ccA		chromosome X open reading frame 56							120.0	121.0	120.0					X																	118694317		2203	4300	6503	SO:0001819	synonymous_variant	63932						protein binding	g.chrX:118694317G>T	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.156C>A	X.37:g.118694317G>T						CXorf56_ENST00000486230.1_Silent_p.P52P|CXorf56_ENST00000371594.4_Silent_p.P52P|CXorf56_ENST00000476164.1_Silent_p.P52P|CXorf56_ENST00000536133.1_Silent_p.P52P	p.P3P	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			2	280	-			52					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	ENST00000371594.4	37	c.9C>A	CCDS14579.1																																																																																				0.458	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		10	161	1	0	4.68919e-08	1	5.58064e-08	10	161				
PDE4A	5141	broad.mit.edu	37	19	10561606	10561606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10561606G>A	ENST00000352831.6	+	6	882	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	PDE4A_ENST00000592685.1_Missense_Mutation_p.A236T|PDE4A_ENST00000344979.3_5'Flank|PDE4A_ENST00000293683.5_Missense_Mutation_p.A232T|PDE4A_ENST00000380702.2_Missense_Mutation_p.A236T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A197T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	258					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CAGCGAGATGGCCTCGCACAA	0.662																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(706-708)Gcc>Acc		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						39.0	35.0	36.0					19																	10561606		1568	3582	5150	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10561606G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.772G>A	19.37:g.10561606G>A	ENSP00000270474:p.Ala258Thr					PDE4A_ENST00000352831.6_Missense_Mutation_p.A258T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A197T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A236T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A232T	p.A236T			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		7	706	+			258					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.706G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148406	0.57151	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014	T;T;T;T	0.78246	-1.14;-1.14;-1.16;-1.15	4.24	3.19	0.36642	.	.	.	.	.	D	0.86740	0.6005	M	0.91196	3.185	0.53005	D	0.999964	B;D;B	0.54397	0.328;0.966;0.351	B;P;P	0.55749	0.178;0.783;0.611	D	0.88560	0.3122	9	0.87932	D	0	.	11.2603	0.49078	0.0:0.0:0.8159:0.1841	.	197;232;258	P27815-6;P27815-2;P27815	.;.;PDE4A_HUMAN	T	236;258;232;197	ENSP00000370078:A236T;ENSP00000270474:A258T;ENSP00000293683:A232T;ENSP00000394754:A197T	ENSP00000293683:A232T	A	+	1	0	PDE4A	10422606	1.000000	0.71417	0.983000	0.44433	0.481000	0.33189	7.465000	0.80898	1.004000	0.39156	-0.238000	0.12139	GCC		0.662	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			3	7	0	0	0	1	0	3	7				
GLS2	27165	broad.mit.edu	37	12	56867069	56867069	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56867069G>A	ENST00000311966.4	-	14	1670	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	464					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	GCCTCAGGTTGTCATAGTTGT	0.423																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1390-1392)gaC>gaT		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						100.0	99.0	99.0					12																	56867069		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56867069G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1392C>T	12.37:g.56867069G>A							p.D464D	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			14	1670	-			464					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.1392C>T	CCDS8921.1																																																																																				0.423	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		22	30	0	0	0	1	0	22	30				
TMED10	10972	broad.mit.edu	37	14	75643203	75643203	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75643203C>A	ENST00000303575.4	-	1	131	c.80G>T	c.(79-81)aGa>aTa	p.R27I		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	27	Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AAGGACCAATCTGGGGCCGAG	0.582																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.(79-81)aGa>aTa		transmembrane emp24-like trafficking protein 10 (yeast)							77.0	77.0	77.0					14																	75643203		2203	4300	6503	SO:0001583	missense	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75643203C>A	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.80G>T	14.37:g.75643203C>A	ENSP00000303145:p.Arg27Ile						p.R27I	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	1	131	-			27					B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	c.80G>T	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848578	0.51164	.	.	ENSG00000170348	ENST00000303575	T	0.22539	1.95	5.15	3.32	0.38043	.	0.437967	0.28241	N	0.016067	T	0.11665	0.0284	N	0.08118	0	0.21802	N	0.999538	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.45353	T	0.12	-0.639	13.2507	0.60050	0.0:0.6961:0.3039:0.0	.	27	P49755	TMEDA_HUMAN	I	27	ENSP00000303145:R27I	ENSP00000303145:R27I	R	-	2	0	TMED10	74712956	0.998000	0.40836	0.994000	0.49952	0.872000	0.50106	1.126000	0.31344	0.744000	0.32741	0.455000	0.32223	AGA		0.582	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		8	78	1	0	0.0581538	1	0.0593651	8	78				
PLEKHM1	9842	broad.mit.edu	37	17	43531380	43531380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531380G>A	ENST00000430334.3	-	7	1971	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A524V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	613	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCAGTCCTCAGCTTCGTCCTG	0.642																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1837-1839)gCt>gTt		pleckstrin homology domain containing, family M (with RUN domain) member 1							34.0	33.0	34.0					17																	43531380		2201	4297	6498	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531380G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1838C>T	17.37:g.43531380G>A	ENSP00000389913:p.Ala613Val					AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A524V	p.A613V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			7	1971	-	Renal(3;0.0405)		613			PH 1.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.1838C>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689016	0.88735	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.33216	1.42;1.42	4.8	4.8	0.61643	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	T	0.46541	-0.9184	10	0.87932	D	0	.	16.6534	0.85222	0.0:0.0:1.0:0.0	.	524;562;613	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	V	613;562;524	ENSP00000389913:A613V;ENSP00000414352:A524V	ENSP00000414352:A524V	A	-	2	0	PLEKHM1	40887163	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	8.896000	0.92521	2.514000	0.84764	0.586000	0.80456	GCT		0.642	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		9	22	0	0	0	1	0	9	22				
CACNA1I	8911	broad.mit.edu	37	22	40054159	40054159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40054159G>A	ENST00000402142.3	+	11	1995	c.1995G>A	c.(1993-1995)ccG>ccA	p.P665P	CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Silent_p.P630P|CACNA1I_ENST00000401624.1_Silent_p.P665P|CACNA1I_ENST00000404898.1_Silent_p.P630P|CACNA1I_ENST00000336649.4_Intron	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	665					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCACAGCCGGAGGAGCTGA	0.607																																						ENST00000402142.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1993-1995)ccG>ccA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						141.0	154.0	150.0					22																	40054159		2145	4245	6390	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40054159G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1995G>A	22.37:g.40054159G>A						CACNA1I_ENST00000407673.1_Silent_p.P630P|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000404898.1_Silent_p.P630P|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000401624.1_Silent_p.P665P	p.P665P	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN			11	1995	+	Melanoma(58;0.0749)		665					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.1995G>A	CCDS46710.1																																																																																				0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		30	75	0	0	0	1	0	30	75				
SCML4	256380	broad.mit.edu	37	6	108070930	108070930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108070930C>T	ENST00000369020.3	-	3	489	c.244G>A	c.(244-246)Gca>Aca	p.A82T	SCML4_ENST00000369022.2_Missense_Mutation_p.A24T|SCML4_ENST00000369021.3_Missense_Mutation_p.A53T	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACCGTGGCTGCGTCCTGAGGG	0.602																																						ENST00000369022.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(70-72)Gca>Aca		sex comb on midleg-like 4 (Drosophila)							76.0	79.0	78.0					6																	108070930		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108070930C>T		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.244G>A	6.37:g.108070930C>T	ENSP00000358016:p.Ala82Thr					SCML4_ENST00000369021.3_Missense_Mutation_p.A53T|SCML4_ENST00000369020.3_Missense_Mutation_p.A82T	p.A24T			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	2	279	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	82					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.70G>A	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650567	0.47362	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.50001	0.86;0.86;0.76;0.84	5.15	1.42	0.22433	.	0.312988	0.28176	N	0.016313	T	0.24851	0.0603	M	0.68952	2.095	0.53005	D	0.999962	P;B;P	0.52463	0.597;0.184;0.953	B;B;B	0.40038	0.031;0.029;0.317	T	0.04915	-1.0918	10	0.31617	T	0.26	.	9.2058	0.37289	0.0:0.7084:0.0:0.2916	.	82;82;53	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	T	24;82;53;53	ENSP00000358018:A24T;ENSP00000358016:A82T;ENSP00000358017:A53T;ENSP00000404688:A53T	ENSP00000358016:A82T	A	-	1	0	SCML4	108177623	0.981000	0.34729	0.742000	0.31022	0.691000	0.40173	2.475000	0.45162	-0.031000	0.13781	-0.140000	0.14226	GCA		0.602	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		8	78	0	0	0	1	0	8	78				
ZFPM2	23414	broad.mit.edu	37	8	106814684	106814684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:106814684C>T	ENST00000407775.2	+	8	2624	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P523S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P660S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P660S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	792					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGATATCTTTCCAGGAATTGT	0.438																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2374-2376)Cca>Tca		zinc finger protein, FOG family member 2							63.0	61.0	61.0					8																	106814684		1895	4128	6023	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814684C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2374C>T	8.37:g.106814684C>T	ENSP00000384179:p.Pro792Ser					ZFPM2_ENST00000378472.4_Missense_Mutation_p.P523S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P660S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P660S	p.P792S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2624	+			792					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2374C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874300	0.51695	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19532	2.14;2.62;2.62;3.83	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.55481	1.735	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.02226	-1.1192	10	0.49607	T	0.09	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	792	Q8WW38	FOG2_HUMAN	S	792;660;660;523	ENSP00000384179:P792S;ENSP00000430757:P660S;ENSP00000428720:P660S;ENSP00000367733:P523S	ENSP00000367733:P523S	P	+	1	0	ZFPM2	106883860	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.922000	0.63404	2.708000	0.92522	0.561000	0.74099	CCA		0.438	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			9	13	0	0	0	1	0	9	13				
DCHS2	54798	broad.mit.edu	37	4	155242188	155242188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155242188C>A	ENST00000357232.4	-	14	2997	c.2998G>T	c.(2998-3000)Gac>Tac	p.D1000Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1000	Cadherin 8. {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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTGAGCTGTCTATTTCAAAG	0.348																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2998-3000)Gac>Tac		dachsous cadherin-related 2							100.0	102.0	101.0					4																	155242188		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155242188C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2998G>T	4.37:g.155242188C>A	ENSP00000349768:p.Asp1000Tyr						p.D1000Y	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	2997	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1000			Cadherin 8.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2998G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676058	0.47886	.	.	ENSG00000197410	ENST00000357232	T	0.66460	-0.21	5.69	4.85	0.62838	Cadherin (4);Cadherin-like (1);	0.166320	0.40302	N	0.001133	D	0.84781	0.5548	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.88588	0.3141	10	0.72032	D	0.01	.	14.7238	0.69329	0.0:0.9306:0.0:0.0694	.	1000	Q6V1P9	PCD23_HUMAN	Y	1000	ENSP00000349768:D1000Y	ENSP00000349768:D1000Y	D	-	1	0	DCHS2	155461638	0.991000	0.36638	0.593000	0.28771	0.601000	0.36947	2.942000	0.49018	1.415000	0.47037	0.563000	0.77884	GAC		0.348	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		56	86	1	0	5.39261e-20	1	7.06762e-20	56	86				
SCN10A	6336	broad.mit.edu	37	3	38793748	38793748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38793748G>A	ENST00000449082.2	-	11	1716	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	573					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCACTAGTGGGCGGCGGTTGG	0.597																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1717-1719)Ccc>Tcc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						136.0	136.0	136.0					3																	38793748		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793748G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1717C>T	3.37:g.38793748G>A	ENSP00000390600:p.Pro573Ser						p.P573S	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1716	-			573					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1717C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	3.432	-0.115973	0.06881	.	.	ENSG00000185313	ENST00000449082	D	0.96104	-3.91	4.03	1.1	0.20463	.	12.972700	0.00166	N	0.000000	D	0.89262	0.6665	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.80679	-0.1275	10	0.31617	T	0.26	.	7.7752	0.29033	0.0:0.1591:0.5126:0.3284	.	573	Q9Y5Y9	SCNAA_HUMAN	S	573	ENSP00000390600:P573S	ENSP00000390600:P573S	P	-	1	0	SCN10A	38768752	0.022000	0.18835	0.005000	0.12908	0.122000	0.20287	0.153000	0.16323	0.226000	0.20979	0.407000	0.27541	CCC		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		21	46	0	0	0	1	0	21	46				
CLUAP1	23059	broad.mit.edu	37	16	3558334	3558334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3558334G>A	ENST00000576634.1	+	4	409	c.265G>A	c.(265-267)Gca>Aca	p.A89T	CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000572600.1_5'Flank|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000571025.1_Missense_Mutation_p.A89T|CLUAP1_ENST00000341633.5_Missense_Mutation_p.A89T	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	89					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCTTTATCAAGCAGATGGGTA	0.393																																						ENST00000571025.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						c.(265-267)Gca>Aca		clusterin associated protein 1							101.0	96.0	98.0					16																	3558334		2197	4300	6497	SO:0001583	missense	23059					nucleus	protein binding	g.chr16:3558334G>A	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.265G>A	16.37:g.3558334G>A	ENSP00000460850:p.Ala89Thr					LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000576634.1_Missense_Mutation_p.A89T|CLUAP1_ENST00000341633.5_Missense_Mutation_p.A89T	p.A89T			Q96AJ1	CLUA1_HUMAN			4	315	+			89					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	c.265G>A	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068912	0.93950	.	.	ENSG00000103351	ENST00000341633	T	0.59364	0.27	4.53	4.53	0.55603	.	0.050328	0.85682	D	0.000000	T	0.79845	0.4516	M	0.91510	3.215	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.84934	0.0861	10	0.87932	D	0	-20.3904	14.7879	0.69816	0.0:0.0:1.0:0.0	.	89	Q96AJ1	CLUA1_HUMAN	T	89	ENSP00000344392:A89T	ENSP00000344392:A89T	A	+	1	0	CLUAP1	3498335	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.458000	0.97634	2.355000	0.79922	0.591000	0.81541	GCA		0.393	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		27	76	0	0	0	1	0	27	76				
PTK2B	2185	broad.mit.edu	37	8	27288419	27288419	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27288419G>A	ENST00000397501.1	+	13	1504	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PTK2B_ENST00000420218.2_Silent_p.Q232Q|PTK2B_ENST00000517339.1_Silent_p.Q232Q|PTK2B_ENST00000338238.4_Silent_p.Q232Q|PTK2B_ENST00000346049.5_Silent_p.Q232Q|PTK2B_ENST00000397497.4_5'UTR|PTK2B_ENST00000544172.1_Silent_p.Q232Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	232	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGATGATCCAGCAGACCTTCC	0.602																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(694-696)caG>caA		protein tyrosine kinase 2 beta							101.0	93.0	96.0					8																	27288419		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27288419G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.696G>A	8.37:g.27288419G>A						PTK2B_ENST00000517339.1_Silent_p.Q232Q|PTK2B_ENST00000420218.2_Silent_p.Q232Q|PTK2B_ENST00000544172.1_Silent_p.Q232Q|PTK2B_ENST00000397497.4_5'UTR|PTK2B_ENST00000338238.4_Silent_p.Q232Q|PTK2B_ENST00000346049.5_Silent_p.Q232Q	p.Q232Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	13	1504	+		Ovarian(32;2.72e-05)	232			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.696G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551992	0.27739	.	.	ENSG00000120899	ENST00000519512	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	T	0.74176	0.3682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71978	-0.4429	4	.	.	.	.	17.5569	0.87894	0.0:0.0:1.0:0.0	.	.	.	.	T	6	.	.	A	+	1	0	PTK2B	27344336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.379000	0.59575	2.735000	0.93741	0.655000	0.94253	GCA		0.602	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		19	35	0	0	0	1	0	19	35				
DNAJC14	85406	broad.mit.edu	37	12	56222254	56222254	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56222254C>A	ENST00000357606.3	-	3	478	c.189G>T	c.(187-189)caG>caT	p.Q63H	DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q63H|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q63H|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	63					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGTTTGGGTGCTGTGTGTGCT	0.577																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(187-189)caG>caT		DnaJ (Hsp40) homolog, subfamily C, member 14							177.0	156.0	163.0					12																	56222254		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222254C>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.189G>T	12.37:g.56222254C>A	ENSP00000350223:p.Gln63His					DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q63H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q63H	p.Q63H			Q6Y2X3	DJC14_HUMAN			3	478	-			63					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.189G>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966817	0.53507	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445;ENST00000546957	T;T;T	0.36157	1.27;1.27;1.27	5.13	3.16	0.36331	.	0.515380	0.19115	N	0.122333	T	0.22627	0.0546	N	0.19112	0.55	0.29279	N	0.870148	P;P	0.37864	0.61;0.61	B;B	0.38712	0.191;0.28	T	0.12016	-1.0564	10	0.72032	D	0.01	-8.4421	6.2506	0.20843	0.1813:0.7255:0.0:0.0932	.	63;63	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	H	63	ENSP00000350223:Q63H;ENSP00000316240:Q63H;ENSP00000317500:Q63H	ENSP00000316240:Q63H	Q	-	3	2	DNAJC14	54508521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.317000	0.19487	1.508000	0.48769	0.650000	0.86243	CAG		0.577	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		13	122	1	0	0.411799	1	0.413423	13	122				
CRP	1401	broad.mit.edu	37	1	159683348	159683348	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159683348G>A	ENST00000255030.5	-	2	745	c.642C>T	c.(640-642)ggC>ggT	p.G214G	CRP_ENST00000368111.1_Silent_p.G92G|CRP_ENST00000437342.1_Silent_p.G36G|CRP_ENST00000343919.2_Silent_p.G92G|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Silent_p.G92G|CRP_ENST00000368112.1_Silent_p.G81G	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	214	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	TGAACACTTCGCCTTGCACTT	0.552																																						ENST00000255030.5																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(640-642)ggC>ggT		C-reactive protein, pentraxin-related	Atorvastatin(DB01076)|Bezafibrate(DB01393)						45.0	47.0	47.0					1																	159683348		2203	4300	6503	SO:0001819	synonymous_variant	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683348G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.642C>T	1.37:g.159683348G>A						CRP_ENST00000343919.2_Silent_p.G92G|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Silent_p.G92G|CRP_ENST00000368111.1_Silent_p.G92G|CRP_ENST00000437342.1_Silent_p.G36G|CRP_ENST00000368112.1_Silent_p.G81G	p.G214G	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN			2	745	-	all_hematologic(112;0.0429)		214			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.642C>T	CCDS30911.1																																																																																				0.552	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		9	63	0	0	0	1	0	9	63				
ASL	435	broad.mit.edu	37	7	65554633	65554633	+	Missense_Mutation	SNP	C	C	A	rs370475550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65554633C>A	ENST00000304874.9	+	14	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	ASL_ENST00000395331.3_Missense_Mutation_p.T318N|ASL_ENST00000395332.3_Missense_Mutation_p.T338N|AC068533.7_ENST00000450043.1_Missense_Mutation_p.H106Q|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.T312N	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	338					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGTCAGACACTATGAGTGCC	0.637																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1012-1014)aCt>aAt		argininosuccinate lyase	L-Arginine(DB00125)						106.0	72.0	83.0					7																	65554633		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65554633C>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1013C>A	7.37:g.65554633C>A	ENSP00000307188:p.Thr338Asn					ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.T312N|ASL_ENST00000395331.3_Missense_Mutation_p.T318N|ASL_ENST00000395332.3_Missense_Mutation_p.T338N|AC068533.7_ENST00000450043.1_Missense_Mutation_p.H106Q	p.T338N	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			14	1115	+			338					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1013C>A	CCDS5531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.2|24.2	4.503676|4.503676	0.85176|0.85176	.|.	.|.	ENSG00000249319|ENSG00000126522	ENST00000450043|ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	.|D;D;D;D	.|0.99220	.|-5.58;-5.58;-5.58;-5.58	5.26|5.26	5.26|5.26	0.73747|0.73747	.|L-Aspartase-like (1);	.|0.111669	.|0.64402	.|D	.|0.000012	D|D	0.98419|0.98419	0.9474|0.9474	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.14805	.|0.003;0.011;0.006	.|B;B;B	.|0.19666	.|0.013;0.011;0.026	D|D	0.97320|0.97320	0.9943|0.9943	5|10	.|0.52906	.|T	.|0.07	.|.	17.9126|17.9126	0.88939|0.88939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|312;318;338	.|E9PE48;E7EMI0;P04424	.|.;.;ARLY_HUMAN	Q|N	106|338;312;338;318	.|ENSP00000307188:T338N;ENSP00000370219:T312N;ENSP00000378741:T338N;ENSP00000378740:T318N	.|ENSP00000307188:T338N	H|T	+|+	3|2	2|0	AC068533.7|ASL	65192068|65192068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	4.693000|4.693000	0.61753|0.61753	2.469000|2.469000	0.83416|0.83416	0.555000|0.555000	0.69702|0.69702	CAC|ACT		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		15	28	1	0	0.146539	1	0.149173	15	28				
EIF1AD	84285	broad.mit.edu	37	11	65766122	65766122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65766122C>T	ENST00000312234.2	-	6	780	c.446G>A	c.(445-447)cGc>cAc	p.R149H	EIF1AD_ENST00000529964.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000526451.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000533544.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000527249.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000525767.1_Missense_Mutation_p.R97H	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	149						intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)			lung(5)	5						ATACTGTCTGCGGTTTGTGTT	0.532																																						ENST00000312234.2																			0				lung(5)	5						c.(445-447)cGc>cAc		eukaryotic translation initiation factor 1A domain containing							186.0	177.0	180.0					11																	65766122		2201	4296	6497	SO:0001583	missense	84285					nucleus	translation initiation factor activity	g.chr11:65766122C>T	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.446G>A	11.37:g.65766122C>T	ENSP00000309175:p.Arg149His					EIF1AD_ENST00000527249.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000533544.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000526451.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000525767.1_Missense_Mutation_p.R97H	p.R149H	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN			6	780	-			149					B2R4N5|Q9BSC1	Missense_Mutation	SNP	ENST00000312234.2	37	c.446G>A	CCDS8124.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095621	0.36952	.	.	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000525767;ENST00000533544;ENST00000527249	T;T;T;T;T	0.55760	1.14;1.14;0.5;1.14;1.14	5.17	4.25	0.50352	.	0.172680	0.52532	N	0.000078	T	0.44519	0.1297	L	0.49350	1.555	0.46376	D	0.999013	B	0.27951	0.195	B	0.22753	0.041	T	0.38222	-0.9671	10	0.44086	T	0.13	.	10.6551	0.45669	0.0:0.9045:0.0:0.0955	.	149	Q8N9N8	EIF1A_HUMAN	H	149;149;97;149;149	ENSP00000436644:R149H;ENSP00000309175:R149H;ENSP00000434796:R97H;ENSP00000434056:R149H;ENSP00000435439:R149H	ENSP00000309175:R149H	R	-	2	0	EIF1AD	65522698	1.000000	0.71417	0.987000	0.45799	0.270000	0.26580	3.706000	0.54830	1.147000	0.42369	0.643000	0.83706	CGC		0.532	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		10	200	0	0	0	1	0	10	200				
HELZ2	85441	broad.mit.edu	37	20	62190668	62190668	+	Silent	SNP	G	G	A	rs201926200		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62190668G>A	ENST00000467148.1	-	19	7950	c.7881C>T	c.(7879-7881)tgC>tgT	p.C2627C	HELZ2_ENST00000427522.2_Silent_p.C2058C	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2627	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTGAGCCTCGCAGAAGTCCA	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14487	0.0		0.0	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(7879-7881)tgC>tgT		helicase with zinc finger 2, transcriptional coactivator							19.0	17.0	18.0					20																	62190668		2194	4294	6488	SO:0001819	synonymous_variant	85441							g.chr20:62190668G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7881C>T	20.37:g.62190668G>A						HELZ2_ENST00000427522.2_Silent_p.C2058C	p.C2627C	NM_001037335.2	NP_001032412.2					19	7950	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.7881C>T	CCDS33508.1																																																																																				0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	6	0	0	0	1	0	6	6				
FMN1	342184	broad.mit.edu	37	15	33261476	33261476	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33261476C>A	ENST00000559047.1	-	5	2425	c.2426G>T	c.(2425-2427)aGa>aTa	p.R809I	FMN1_ENST00000334528.9_Missense_Mutation_p.R586I|FMN1_ENST00000561249.1_Missense_Mutation_p.R711I|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	809	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAAGGTCTCTCTGTCTGTCTG	0.468																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1756-1758)aGa>aTa		formin 1							424.0	391.0	401.0					15																	33261476		1998	4168	6166	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261476C>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2426G>T	15.37:g.33261476C>A	ENSP00000454047:p.Arg809Ile					FMN1_ENST00000559047.1_Missense_Mutation_p.R809I|FMN1_ENST00000561249.1_Missense_Mutation_p.R711I	p.R586I	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1756	-		all_lung(180;1.14e-07)	809			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1757G>T		.	.	.	.	.	.	.	.	.	.	c	15.97	2.989219	0.53934	.	.	ENSG00000248905	ENST00000334528	T	0.52983	0.64	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.68952	2.095	.	.	.	D	0.89917	1.0	D	0.83275	0.996	T	0.73180	-0.4064	9	0.87932	D	0	.	17.6138	0.88063	0.0:1.0:0.0:0.0	.	586	Q68DA7-5	.	I	586	ENSP00000333950:R586I	ENSP00000333950:R586I	R	-	2	0	FMN1	31048768	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	5.869000	0.69613	2.390000	0.81377	0.550000	0.68814	AGA		0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		44	366	1	0	4.86159e-25	1	6.45825e-25	44	366				
NRP1	8829	broad.mit.edu	37	10	33469177	33469177	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33469177G>T	ENST00000265371.4	-	18	3124	c.2599C>A	c.(2599-2601)Ctg>Atg	p.L867M	NRP1_ENST00000374867.2_Missense_Mutation_p.L867M|NRP1_ENST00000374875.1_Missense_Mutation_p.L679M|NRP1_ENST00000395995.1_Missense_Mutation_p.L850M			O14786	NRP1_HUMAN	neuropilin 1	867					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGGACCCCCAGGGCACTCATG	0.527																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2599-2601)Ctg>Atg		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						176.0	168.0	170.0					10																	33469177		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33469177G>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2599C>A	10.37:g.33469177G>T	ENSP00000265371:p.Leu867Met					NRP1_ENST00000374867.2_Missense_Mutation_p.L867M|NRP1_ENST00000395995.1_Missense_Mutation_p.L850M	p.L867M			O14786	NRP1_HUMAN			18	3124	-			867					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2599C>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474251	0.63737	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000413802;ENST00000395995	D;D;D;D	0.96232	-2.82;-3.95;-2.82;-3.0	5.84	5.84	0.93424	Neuropilin-1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;D;D;D;D	0.81914	0.995;0.977;0.995;0.995;0.974	D	0.96480	0.9355	10	0.87932	D	0	-14.1732	13.3609	0.60654	0.0716:0.0:0.9284:0.0	.	861;867;867;679;850	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	M	867;679;867;49;850	ENSP00000265371:L867M;ENSP00000364009:L679M;ENSP00000364001:L867M;ENSP00000379317:L850M	ENSP00000265371:L867M	L	-	1	2	NRP1	33509183	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.469000	0.73555	2.760000	0.94817	0.655000	0.94253	CTG		0.527	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			13	115	1	0	0.00244969	1	0.00259885	13	115				
ADPRM	56985	broad.mit.edu	37	17	10614224	10614224	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10614224C>T	ENST00000379774.4	+	4	883	c.792C>T	c.(790-792)gtC>gtT	p.V264V	ADPRM_ENST00000609540.1_Missense_Mutation_p.S263L	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	264							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CCCTGGCAGTCATTTGGTCTC	0.483																																						ENST00000379774.4																			0											c.(790-792)gtC>gtT		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							211.0	177.0	189.0					17																	10614224		2203	4300	6503	SO:0001819	synonymous_variant	56985							g.chr17:10614224C>T	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.792C>T	17.37:g.10614224C>T							p.V264V	NM_020233.4	NP_064618.3					4	883	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.792C>T	CCDS11159.2																																																																																				0.483	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		27	47	0	0	0	1	0	27	47				
ZNF483	158399	broad.mit.edu	37	9	114304804	114304804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114304804G>A	ENST00000309235.5	+	6	1747	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GACTGTGGGAGACCCTTTAGT	0.388																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1588-1590)aGa>aAa		zinc finger protein 483							55.0	59.0	58.0					9																	114304804		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304804G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1589G>A	9.37:g.114304804G>A	ENSP00000311679:p.Arg530Lys					ZNF483_ENST00000358151.4_Intron	p.R530K	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1747	+			530					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1589G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	1.514	-0.548598	0.04024	.	.	ENSG00000173258	ENST00000309235	T	0.11495	2.77	3.98	3.08	0.35506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.121159	0.38005	N	0.001845	T	0.02610	0.0079	N	0.01267	-0.92	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.36841	-0.9731	10	0.02654	T	1	-27.0751	6.3546	0.21395	0.2172:0.0:0.7828:0.0	.	530	Q8TF39	ZN483_HUMAN	K	530	ENSP00000311679:R530K	ENSP00000311679:R530K	R	+	2	0	ZNF483	113344625	1.000000	0.71417	0.991000	0.47740	0.113000	0.19764	4.340000	0.59328	1.276000	0.44395	-0.140000	0.14226	AGA		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		4	73	0	0	0	1	0	4	73				
ZNF335	63925	broad.mit.edu	37	20	44587904	44587904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44587904T>C	ENST00000322927.2	-	15	2289	c.2189A>G	c.(2188-2190)gAg>gGg	p.E730G	ZNF335_ENST00000426788.1_Missense_Mutation_p.E575G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	730					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTTCAGCTCCTCAATCTGCTG	0.652																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2188-2190)gAg>gGg		zinc finger protein 335							46.0	51.0	49.0					20																	44587904		2203	4299	6502	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44587904T>C	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2189A>G	20.37:g.44587904T>C	ENSP00000325326:p.Glu730Gly					ZNF335_ENST00000426788.1_Missense_Mutation_p.E575G	p.E730G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			15	2289	-		Myeloproliferative disorder(115;0.0122)	730					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2189A>G	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844021	0.91197	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.10860	2.95;2.83	4.91	4.91	0.64330	.	0.059309	0.64402	D	0.000003	T	0.23846	0.0577	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.00907	-1.1519	10	0.31617	T	0.26	-23.6621	13.8771	0.63660	0.0:0.0:0.0:1.0	.	575;730	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	G	730;507;575	ENSP00000325326:E730G;ENSP00000397098:E575G	ENSP00000243961:E507G	E	-	2	0	ZNF335	44021311	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.410000	0.80065	2.051000	0.60960	0.459000	0.35465	GAG		0.652	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		3	93	0	0	0	1	0	3	93				
PCDH12	51294	broad.mit.edu	37	5	141336296	141336296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141336296G>T	ENST00000231484.3	-	1	2331	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGACAAGAGCAATAAAACT	0.507																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1120-1122)gCt>gAt		protocadherin 12							136.0	125.0	129.0					5																	141336296		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336296G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1121C>A	5.37:g.141336296G>T	ENSP00000231484:p.Ala374Asp						p.A374D	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2331	-		all_hematologic(541;0.0999)	374			Cadherin 4.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1121C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571253	0.65765	.	.	ENSG00000113555	ENST00000231484	T	0.54279	0.58	5.04	5.04	0.67666	Cadherin (3);Cadherin-like (1);	0.058486	0.64402	D	0.000002	T	0.79323	0.4426	M	0.94063	3.49	0.58432	D	0.999998	D	0.76494	0.999	D	0.77557	0.99	D	0.84809	0.0789	10	0.87932	D	0	.	15.9181	0.79539	0.0:0.0:1.0:0.0	.	374	Q9NPG4	PCD12_HUMAN	D	374	ENSP00000231484:A374D	ENSP00000231484:A374D	A	-	2	0	PCDH12	141316480	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.480000	0.66820	2.618000	0.88619	0.561000	0.74099	GCT		0.507	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		33	73	1	0	3.11337e-16	1	4.01248e-16	33	73				
ARHGEF11	9826	broad.mit.edu	37	1	156914914	156914914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156914914G>A	ENST00000361409.2	-	29	3510	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.A339V|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.A963V	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	923	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGTTTTACCGCTTCATTCAC	0.577																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2887-2889)gCg>gTg		Rho guanine nucleotide exchange factor (GEF) 11							102.0	105.0	104.0					1																	156914914		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914914G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2768C>T	1.37:g.156914914G>A	ENSP00000354644:p.Ala923Val					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.A923V|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.A339V	p.A963V	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			30	3927	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		923					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2888C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471400	0.63737	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.68025	-0.3;-0.3;-0.3	5.28	4.35	0.52113	Dbl homology (DH) domain (3);	0.222365	0.31461	N	0.007613	T	0.40694	0.1127	L	0.32530	0.975	0.50467	D	0.999876	B;B;B	0.34061	0.436;0.145;0.416	B;B;B	0.25987	0.065;0.004;0.031	T	0.51834	-0.8655	10	0.52906	T	0.07	-16.3704	14.0343	0.64636	0.0747:0.0:0.9253:0.0	.	339;923;963	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	V	963;923;339	ENSP00000357177:A963V;ENSP00000354644:A923V;ENSP00000313470:A339V	ENSP00000313470:A339V	A	-	2	0	ARHGEF11	155181538	1.000000	0.71417	0.946000	0.38457	0.781000	0.44180	3.471000	0.53107	2.756000	0.94617	0.650000	0.86243	GCG		0.577	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		53	100	0	0	0	1	0	53	100				
STXBP1	6812	broad.mit.edu	37	9	130444731	130444731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130444731C>T	ENST00000373299.1	+	18	1709	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	STXBP1_ENST00000373302.3_Missense_Mutation_p.R532C|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	532					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AGGCGAGTACCGCAGTGGCCC	0.572																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(1594-1596)Cgc>Tgc		syntaxin binding protein 1							59.0	59.0	59.0					9																	130444731		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130444731C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1594C>T	9.37:g.130444731C>T	ENSP00000362396:p.Arg532Cys					STXBP1_ENST00000373299.1_Missense_Mutation_p.R532C|STXBP1_ENST00000481942.1_Intron	p.R532C	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			18	1733	+			532					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.1594C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299359	0.81136	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.77358	-1.09;-1.09	5.62	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.89364	0.6694	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.944	D	0.91285	0.5054	10	0.87932	D	0	-1.6828	14.8556	0.70335	0.1534:0.8466:0.0:0.0	.	532;532	P61764;P61764-2	STXB1_HUMAN;.	C	486;532;364;532	ENSP00000362399:R532C;ENSP00000362396:R532C	ENSP00000362396:R532C	R	+	1	0	STXBP1	129484552	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.915000	0.39976	2.644000	0.89710	0.561000	0.74099	CGC		0.572	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		27	33	0	0	0	1	0	27	33				
TOMM34	10953	broad.mit.edu	37	20	43580536	43580536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580536G>A	ENST00000372813.3	-	4	640	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	163					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.S163L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GTGGTTCTCCGAAGGCAAGGA	0.527																																						ENST00000372813.3																			1	Substitution - Missense(1)	p.S163L(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11						c.(487-489)tCg>tTg		translocase of outer mitochondrial membrane 34							173.0	134.0	147.0					20																	43580536		2203	4300	6503	SO:0001583	missense	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43580536G>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.488C>T	20.37:g.43580536G>A	ENSP00000361900:p.Ser163Leu					PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	p.S163L	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN			4	640	-		Myeloproliferative disorder(115;0.0122)	163					Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	c.488C>T	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298010	0.23650	.	.	ENSG00000025772	ENST00000372813	T	0.78595	-1.19	5.14	0.816	0.18768	.	0.903830	0.09496	N	0.794277	T	0.54334	0.1852	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39354	-0.9618	10	0.27082	T	0.32	-37.1747	6.8513	0.24016	0.1495:0.2681:0.5824:0.0	.	163	Q15785	TOM34_HUMAN	L	163	ENSP00000361900:S163L	ENSP00000361900:S163L	S	-	2	0	TOMM34	43013950	0.810000	0.29049	0.008000	0.14137	0.003000	0.03518	1.320000	0.33666	0.346000	0.23899	-0.172000	0.13284	TCG		0.527	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		32	58	0	0	0	1	0	32	58				
SET	6418	broad.mit.edu	37	9	131456919	131456919	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131456919G>T	ENST00000372692.4	+	8	1090		c.e8-1		SET_ENST00000372688.4_Splice_Site|SET_ENST00000322030.8_Splice_Site|SET_ENST00000409104.3_Splice_Site	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene						DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TTTTCTTTCAGGAGGATGAAG	0.443			T	NUP214	AML																																	ENST00000322030.8				Dom	yes		9	9q34	6418	T	SET translocation			L	NUP214		AML		0				endometrium(2)|kidney(1)|lung(2)	5						c.e8-1		SET nuclear oncogene							123.0	120.0	121.0					9																	131456919		2203	4300	6503	SO:0001630	splice_region_variant	6418				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr9:131456919G>T	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.850-1G>T	9.37:g.131456919G>T						SET_ENST00000409104.3_Splice_Site|SET_ENST00000372688.4_Splice_Site|SET_ENST00000372692.4_Splice_Site		NM_003011.3	NP_003002.2	Q01105	SET_HUMAN		GBM - Glioblastoma multiforme(294;3.1e-09)	8	1167	+		Myeloproliferative disorder(178;0.204)						A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Splice_Site	SNP	ENST00000372692.4	37		CCDS48037.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579074	0.46006	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	.	.	.	5.0	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3231	0.54995	0.0815:0.0:0.9185:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SET	130496740	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	8.254000	0.89844	1.106000	0.41623	0.555000	0.69702	.		0.443	SET-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054476.2	NM_001122821	Intron	8	84	1	0	0.00307968	1	0.00325696	8	84				
ADAM18	8749	broad.mit.edu	37	8	39505913	39505913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39505913G>T	ENST00000265707.5	+	12	1142	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ADAM18_ENST00000379866.1_Missense_Mutation_p.R342I|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	366	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACGACTATAGATATTTTGTT	0.348																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1096-1098)aGa>aTa		ADAM metallopeptidase domain 18							62.0	63.0	63.0					8																	39505913		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39505913G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1097G>T	8.37:g.39505913G>T	ENSP00000265707:p.Arg366Ile					ADAM18_ENST00000379866.1_Missense_Mutation_p.R342I|ADAM18_ENST00000541111.1_Intron	p.R366I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		12	1142	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	366			Peptidase M12B.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1097G>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756857	0.15846	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.64438	-0.1;-0.1	5.4	-5.51	0.02568	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.930373	0.08987	N	0.864945	T	0.48259	0.1490	M	0.64997	1.995	0.09310	N	1	B;B	0.22346	0.055;0.068	B;B	0.28553	0.089;0.091	T	0.44205	-0.9343	10	0.22706	T	0.39	.	0.9863	0.01447	0.3381:0.3169:0.1508:0.1942	.	342;366	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	366;342;298	ENSP00000265707:R366I;ENSP00000369195:R342I	ENSP00000265707:R366I	R	+	2	0	ADAM18	39625070	0.002000	0.14202	0.000000	0.03702	0.034000	0.12701	-0.404000	0.07205	-0.904000	0.03876	0.585000	0.79938	AGA		0.348	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		20	41	1	0	3.10358e-05	1	3.48756e-05	20	41				
PCIF1	63935	broad.mit.edu	37	20	44576240	44576240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576240C>T	ENST00000372409.3	+	17	2325	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	654					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCCAAGTGGGCGCCGACGCCT	0.622																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1960-1962)gCg>gTg		PDX1 C-terminal inhibiting factor 1							43.0	48.0	47.0					20																	44576240		2202	4299	6501	SO:0001583	missense	63935					nucleus		g.chr20:44576240C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1961C>T	20.37:g.44576240C>T	ENSP00000361486:p.Ala654Val					PCIF1_ENST00000479348.1_3'UTR	p.A654V	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			17	2325	+			654					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1961C>T	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645042	0.29246	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.45	2.05	0.26809	.	0.411127	0.26265	N	0.025375	T	0.18173	0.0436	N	0.19112	0.55	0.21184	N	0.999761	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.10823	-1.0613	9	0.46703	T	0.11	-22.5239	2.0631	0.03596	0.1251:0.3868:0.2926:0.1955	.	654;654	B7Z5U5;Q9H4Z3	.;PCIF1_HUMAN	V	654	.	ENSP00000361486:A654V	A	+	2	0	PCIF1	44009647	1.000000	0.71417	0.986000	0.45419	0.606000	0.37113	3.117000	0.50407	0.682000	0.31407	-1.981000	0.00455	GCG		0.622	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		10	27	0	0	0	1	0	10	27				
AVIL	10677	broad.mit.edu	37	12	58201166	58201166	+	Missense_Mutation	SNP	G	G	A	rs374415947		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201166G>A	ENST00000257861.3	-	12	1869	c.1439C>T	c.(1438-1440)aCg>aTg	p.T480M	RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'Flank|TSFM_ENST00000548851.1_Intron|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000537081.1_Missense_Mutation_p.T473M	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	480	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGTGGCTCCGTTCCCATCCT	0.537													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20098	0.0		0.0	False		,,,				2504	0.0					ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1417-1419)aCg>aTg		advillin							159.0	135.0	144.0					12																	58201166		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58201166G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1439C>T	12.37:g.58201166G>A	ENSP00000257861:p.Thr480Met					TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.T480M	p.T473M			O75366	AVIL_HUMAN			12	1417	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		480			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1418C>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	g	16.68	3.189777	0.57909	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.54866	0.55;0.55	4.77	2.41	0.29592	Gelsolin domain (1);	0.092939	0.64402	N	0.000001	T	0.40171	0.1106	N	0.24115	0.695	0.24671	N	0.993412	P;P	0.45986	0.813;0.87	B;P	0.46026	0.367;0.501	T	0.25779	-1.0122	10	0.72032	D	0.01	-20.3872	7.4204	0.27069	0.1374:0.0:0.1557:0.7068	.	473;480	O75366-2;O75366	.;AVIL_HUMAN	M	473;480	ENSP00000443207:T473M;ENSP00000257861:T480M	ENSP00000257861:T480M	T	-	2	0	AVIL	56487433	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.023000	0.57211	0.413000	0.25759	-1.328000	0.01277	ACG		0.537	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		34	60	0	0	0	1	0	34	60				
UQCRC1	7384	broad.mit.edu	37	3	48642153	48642153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48642153G>T	ENST00000203407.5	-	4	774	c.358C>A	c.(358-360)Ctt>Att	p.L120I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	120					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGGCATTAAGATGGGCCCCC	0.557																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(358-360)Ctt>Att		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						101.0	89.0	93.0					3																	48642153		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48642153G>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.358C>A	3.37:g.48642153G>T	ENSP00000203407:p.Leu120Ile						p.L120I	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	774	-			120					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.358C>A	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013682	0.93404	.	.	ENSG00000010256	ENST00000203407	T	0.46819	0.86	5.48	5.48	0.80851	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.058978	0.64402	D	0.000001	T	0.69815	0.3153	M	0.79926	2.475	0.80722	D	1	D;P	0.67145	0.996;0.956	D;P	0.80764	0.994;0.877	T	0.73839	-0.3856	10	0.87932	D	0	-15.5654	14.6101	0.68510	0.0718:0.0:0.9282:0.0	.	5;120	B4DUL5;P31930	.;QCR1_HUMAN	I	120	ENSP00000203407:L120I	ENSP00000203407:L120I	L	-	1	0	UQCRC1	48617157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.123000	0.64703	2.590000	0.87494	0.561000	0.74099	CTT		0.557	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		14	16	1	0	2.23348e-06	1	2.57349e-06	14	16				
ZNF829	374899	broad.mit.edu	37	19	37383201	37383201	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37383201G>T	ENST00000391711.3	-	6	856	c.492C>A	c.(490-492)acC>acA	p.T164T	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Silent_p.T245T|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTAAAGGTCTTTCCAC	0.363																																						ENST00000520965.1																			0				endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(733-735)acC>acA		zinc finger protein 829							75.0	69.0	71.0					19																	37383201		1989	4188	6177	SO:0001819	synonymous_variant	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37383201G>T	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.492C>A	19.37:g.37383201G>T						ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Silent_p.T164T|ZNF345_ENST00000526123.1_Intron	p.T245T	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	801	-	Esophageal squamous(110;0.183)		164					Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	c.735C>A	CCDS42557.1																																																																																				0.363	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		9	18	1	0	1.12685e-05	1	1.27857e-05	9	18				
LRAT	9227	broad.mit.edu	37	4	155670276	155670276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155670276G>A	ENST00000336356.3	+	3	934	c.681G>A	c.(679-681)tgG>tgA	p.W227*	LRAT_ENST00000507827.1_Nonsense_Mutation_p.W227*	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	227					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTTCCTATGGATGGCTGGCT	0.383																																						ENST00000336356.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16						c.(679-681)tgG>tgA		lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	Vitamin A(DB00162)						233.0	211.0	219.0					4																	155670276		2203	4300	6503	SO:0001587	stop_gained	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155670276G>A	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.681G>A	4.37:g.155670276G>A	ENSP00000337224:p.Trp227*					LRAT_ENST00000507827.1_Nonsense_Mutation_p.W227*	p.W227*	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN			3	934	+	all_hematologic(180;0.215)	Renal(120;0.0458)	227					A8K983|Q8N716	Nonsense_Mutation	SNP	ENST00000336356.3	37	c.681G>A	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203603	0.95033	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	.	.	.	5.81	5.81	0.92471	.	0.158316	0.64402	D	0.000017	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-51.6435	20.0782	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	X	227	.	ENSP00000337224:W227X	W	+	3	0	LRAT	155889726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.334000	0.96470	2.746000	0.94184	0.655000	0.94253	TGG		0.383	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		54	98	0	0	0	1	0	54	98				
SYNE1	23345	broad.mit.edu	37	6	152553312	152553312	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152553312T>C	ENST00000367255.5	-	113	21402	c.20801A>G	c.(20800-20802)gAa>gGa	p.E6934G	SYNE1_ENST00000356820.4_Missense_Mutation_p.E1458G|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6934G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E6546G|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6863G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6863G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6934					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATATTATCTTCATCCTTCTG	0.318										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20800-20802)gAa>gGa		spectrin repeat containing, nuclear envelope 1							61.0	69.0	66.0					6																	152553312		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152553312T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20801A>G	6.37:g.152553312T>C	ENSP00000356224:p.Glu6934Gly	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.E6546G|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6934G|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6863G|SYNE1_ENST00000356820.4_Missense_Mutation_p.E1458G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6863G	p.E6934G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	113	21402	-		Ovarian(120;0.0955)	6934					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20801A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523179	0.85600	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.59772	0.33;0.34;0.24;0.33;0.46;2.36	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000014	T	0.69726	0.3143	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74348	0.962;0.962;0.983	T	0.74259	-0.3723	10	0.72032	D	0.01	.	16.0664	0.80878	0.0:0.0:0.0:1.0	.	6934;6934;6863	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	G	6934;6863;6934;6863;6546;1458	ENSP00000356224:E6934G;ENSP00000396024:E6863G;ENSP00000265368:E6934G;ENSP00000390975:E6863G;ENSP00000341887:E6546G;ENSP00000349276:E1458G	ENSP00000265368:E6934G	E	-	2	0	SYNE1	152595005	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.000000	0.88501	2.201000	0.70794	0.533000	0.62120	GAA		0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	85	0	0	0	1	0	15	85				
TBL1XR1	79718	broad.mit.edu	37	3	176752029	176752029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:176752029C>A	ENST00000430069.1	-	13	1466	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	TBL1XR1_ENST00000457928.2_Nonsense_Mutation_p.G403*			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	403					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCCCTGGTCCTGTTGGACTC	0.328																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1207-1209)Gga>Tga		transducin (beta)-like 1 X-linked receptor 1							138.0	135.0	136.0					3																	176752029		1830	4091	5921	SO:0001587	stop_gained	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176752029C>A	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1207G>T	3.37:g.176752029C>A	ENSP00000405574:p.Gly403*					TBL1XR1_ENST00000457928.2_Nonsense_Mutation_p.G403*	p.G403*			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		13	1466	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	403					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Nonsense_Mutation	SNP	ENST00000430069.1	37	c.1207G>T	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	42	9.366192	0.99150	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.7953	18.7223	0.91700	0.0:1.0:0.0:0.0	.	.	.	.	X	403;403;265	.	ENSP00000405574:G403X	G	-	1	0	TBL1XR1	178234723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.672000	0.90937	0.650000	0.86243	GGA		0.328	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		8	50	1	0	0.00307968	1	0.00325696	8	50				
PNLIPRP1	5407	broad.mit.edu	37	10	118359629	118359629	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118359629C>T	ENST00000528052.1	+	9	956	c.885C>T	c.(883-885)ccC>ccT	p.P295P	PNLIPRP1_ENST00000534537.1_Silent_p.P295P|PNLIPRP1_ENST00000358834.4_Silent_p.P295P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	295					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.P295P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCCTCAATCCCGATGGGTTTG	0.488																																						ENST00000528052.1																			1	Substitution - coding silent(1)	p.P295P(1)	lung(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(883-885)ccC>ccT		pancreatic lipase-related protein 1							198.0	177.0	184.0					10																	118359629		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118359629C>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.885C>T	10.37:g.118359629C>T						PNLIPRP1_ENST00000358834.4_Silent_p.P295P|PNLIPRP1_ENST00000534537.1_Silent_p.P295P	p.P295P			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	9	956	+			295					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.885C>T	CCDS7595.1																																																																																				0.488	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		41	66	0	0	0	1	0	41	66				
ZFP30	22835	broad.mit.edu	37	19	38135552	38135552	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38135552C>A	ENST00000351218.2	-	4	652	c.95G>T	c.(94-96)aGa>aTa	p.R32I	ZFP30_ENST00000589018.1_Missense_Mutation_p.R32I|ZFP30_ENST00000514101.2_Missense_Mutation_p.R32I|ZFP30_ENST00000392144.1_Missense_Mutation_p.R32I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCACATCTCTGTACAAATT	0.403																																						ENST00000351218.2																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(94-96)aGa>aTa		ZFP30 zinc finger protein							144.0	133.0	137.0					19																	38135552		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38135552C>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.95G>T	19.37:g.38135552C>A	ENSP00000343581:p.Arg32Ile					ZFP30_ENST00000514101.2_Missense_Mutation_p.R32I|ZFP30_ENST00000392144.1_Missense_Mutation_p.R32I|ZFP30_ENST00000589018.1_Missense_Mutation_p.R32I	p.R32I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	652	-			32			KRAB.		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.95G>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833243	0.71258	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.02763	4.17;4.17;4.17	4.74	4.74	0.60224	Krueppel-associated box (4);	0.000000	0.36167	N	0.002754	T	0.15522	0.0374	H	0.94582	3.555	0.45427	D	0.998402	P;P	0.51933	0.949;0.949	P;P	0.57846	0.828;0.828	T	0.00067	-1.2142	10	0.87932	D	0	.	6.9286	0.24429	0.0:0.7293:0.1779:0.0928	.	32;32	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	I	32	ENSP00000343581:R32I;ENSP00000422930:R32I;ENSP00000375988:R32I	ENSP00000343581:R32I	R	-	2	0	ZFP30	42827392	0.780000	0.28664	1.000000	0.80357	0.997000	0.91878	0.071000	0.14594	2.603000	0.88011	0.650000	0.86243	AGA		0.403	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		6	90	1	0	0.00116845	1	0.00124821	6	90				
IL1R2	7850	broad.mit.edu	37	2	102626164	102626164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626164C>T	ENST00000332549.3	+	3	437	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	IL1R2_ENST00000441002.1_Missense_Mutation_p.H70Y|IL1R2_ENST00000393414.2_Missense_Mutation_p.H70Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	70	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CCTGACATGGCATAAAAATGA	0.617																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(208-210)Cat>Tat		interleukin 1 receptor, type II	Anakinra(DB00026)						153.0	159.0	157.0					2																	102626164		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626164C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.208C>T	2.37:g.102626164C>T	ENSP00000330959:p.His70Tyr					IL1R2_ENST00000393414.2_Missense_Mutation_p.H70Y|IL1R2_ENST00000441002.1_Missense_Mutation_p.H70Y	p.H70Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			3	437	+			70			Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.208C>T	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	C	2.422	-0.332928	0.05278	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.8	2.96	0.34315	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.065850	0.07104	N	0.840926	T	0.03434	0.0099	N	0.01771	-0.73	0.23150	N	0.99821	B	0.14012	0.009	B	0.10450	0.005	T	0.41645	-0.9497	10	0.02654	T	1	.	4.7456	0.13036	0.3182:0.5218:0.0:0.16	.	70	P27930	IL1R2_HUMAN	Y	70	ENSP00000330959:H70Y;ENSP00000377066:H70Y;ENSP00000408415:H70Y;ENSP00000414611:H70Y	ENSP00000330959:H70Y	H	+	1	0	IL1R2	101992596	0.150000	0.22732	0.315000	0.25238	0.494000	0.33585	0.310000	0.19356	0.341000	0.23771	0.561000	0.74099	CAT		0.617	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		89	130	0	0	0	1	0	89	130				
GRM3	2913	broad.mit.edu	37	7	86394888	86394888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394888G>A	ENST00000361669.2	+	2	1526	c.427G>A	c.(427-429)Gca>Aca	p.A143T	GRM3_ENST00000394720.2_Missense_Mutation_p.A141T|GRM3_ENST00000439827.1_Missense_Mutation_p.A143T|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	143					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACTTCTCATTGCAGGGGTCAT	0.428																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(427-429)Gca>Aca		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						112.0	100.0	104.0					7																	86394888		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86394888G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.427G>A	7.37:g.86394888G>A	ENSP00000355316:p.Ala143Thr					GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A141T|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.A143T	p.A143T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			2	1526	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		143					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.427G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509922	0.64522	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	D;D;D	0.83914	-1.78;-1.78;-1.78	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	N	0.19112	0.55	0.80722	D	1	B;B	0.32573	0.376;0.13	B;B	0.36134	0.218;0.144	T	0.70070	-0.4973	10	0.16420	T	0.52	.	17.7499	0.88430	0.0:0.0:1.0:0.0	.	143;143	G5E9K2;Q14832	.;GRM3_HUMAN	T	143;143;141	ENSP00000355316:A143T;ENSP00000398767:A143T;ENSP00000378209:A141T	ENSP00000355316:A143T	A	+	1	0	GRM3	86232824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.493000	0.66899	2.675000	0.91044	0.655000	0.94253	GCA		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			8	110	0	0	0	1	0	8	110				
LRP6	4040	broad.mit.edu	37	12	12291271	12291271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12291271G>T	ENST00000261349.4	-	16	3671	c.3595C>A	c.(3595-3597)Ctt>Att	p.L1199I	LRP6_ENST00000543091.1_Missense_Mutation_p.L1199I|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1199	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATTCTTGAAGGTTCAGCTCC	0.353																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3595-3597)Ctt>Att		low density lipoprotein receptor-related protein 6							189.0	172.0	178.0					12																	12291271		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12291271G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3595C>A	12.37:g.12291271G>T	ENSP00000261349:p.Leu1199Ile					LRP6_ENST00000543091.1_Missense_Mutation_p.L1199I|BCL2L14_ENST00000396369.1_Intron	p.L1199I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			16	3671	-		Prostate(47;0.0865)	1199			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3595C>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714321	0.30413	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93547	-3.19;-3.24	5.74	3.69	0.42338	Six-bladed beta-propeller, TolB-like (1);	0.400798	0.21577	N	0.072313	D	0.84897	0.5574	N	0.13235	0.315	0.32738	N	0.508067	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.81892	-0.0724	10	0.30078	T	0.28	.	10.203	0.43097	0.0:0.1766:0.5457:0.2777	.	1199;1199	F5H7J9;O75581	.;LRP6_HUMAN	I	1199	ENSP00000261349:L1199I;ENSP00000442472:L1199I	ENSP00000261349:L1199I	L	-	1	0	LRP6	12182538	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.577000	0.36515	2.711000	0.92665	0.591000	0.81541	CTT		0.353	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			11	142	1	0	9.05144e-12	1	1.1316e-11	11	142				
TEX15	56154	broad.mit.edu	37	8	30700227	30700227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30700227C>T	ENST00000256246.2	-	1	6381	c.6307G>A	c.(6307-6309)Gtt>Att	p.V2103I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2103					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGCACTGAACCAGCTCAGGA	0.358																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6307-6309)Gtt>Att		testis expressed 15							60.0	59.0	59.0					8																	30700227		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30700227C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6307G>A	8.37:g.30700227C>T	ENSP00000256246:p.Val2103Ile						p.V2103I	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6381	-			2103						Missense_Mutation	SNP	ENST00000256246.2	37	c.6307G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.853	-0.738007	0.03111	.	.	ENSG00000133863	ENST00000256246	T	0.09817	2.94	5.67	-4.88	0.03113	.	1.011290	0.07933	N	0.977793	T	0.06325	0.0163	N	0.12569	0.235	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.42749	-0.9433	10	0.87932	D	0	.	11.3508	0.49587	0.106:0.1352:0.0:0.7588	.	2103	Q9BXT5	TEX15_HUMAN	I	2103	ENSP00000256246:V2103I	ENSP00000256246:V2103I	V	-	1	0	TEX15	30819769	0.000000	0.05858	0.022000	0.16811	0.553000	0.35397	-2.036000	0.01421	-0.865000	0.04073	-0.225000	0.12378	GTT		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			16	48	0	0	0	1	0	16	48				
GPRIN2	9721	broad.mit.edu	37	10	46999227	46999227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999227C>T	ENST00000374317.1	+	3	620	c.347C>T	c.(346-348)gCt>gTt	p.A116V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A116V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	116										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGTGCTGCTGCTATGCAGAGG	0.647																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(346-348)gCt>gTt		G protein regulated inducer of neurite outgrowth 2							36.0	29.0	31.0					10																	46999227		2202	4296	6498	SO:0001583	missense	9721							g.chr10:46999227C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.347C>T	10.37:g.46999227C>T	ENSP00000363436:p.Ala116Val					GPRIN2_ENST00000374317.1_Missense_Mutation_p.A116V	p.A116V			O60269	GRIN2_HUMAN			1	1302	+			116					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.347C>T	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	6.020	0.372039	0.11409	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03607	3.87;3.87	4.44	4.44	0.53790	.	0.324874	0.22544	N	0.058694	T	0.05868	0.0153	L	0.48362	1.52	0.09310	N	1	P	0.45957	0.869	P	0.44811	0.461	T	0.34875	-0.9811	10	0.33141	T	0.24	-4.3592	12.8645	0.57932	0.0:1.0:0.0:0.0	.	116	O60269	GRIN2_HUMAN	V	116	ENSP00000363436:A116V;ENSP00000363433:A116V	ENSP00000363433:A116V	A	+	2	0	GPRIN2	46419233	0.000000	0.05858	0.008000	0.14137	0.136000	0.21042	0.394000	0.20834	2.746000	0.94184	0.650000	0.86243	GCT		0.647	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		4	16	0	0	0	1	0	4	16				
ITGA10	8515	broad.mit.edu	37	1	145527702	145527702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145527702C>T	ENST00000369304.3	+	2	317	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	ITGA10_ENST00000538811.1_Silent_p.N22N|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	48					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCTTACAACATGTTGGGGG	0.537																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(142-144)Cat>Tat		integrin, alpha 10							118.0	118.0	118.0					1																	145527702		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145527702C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.142C>T	1.37:g.145527702C>T	ENSP00000358310:p.His48Tyr					ITGA10_ENST00000538811.1_Silent_p.N22N|ITGA10_ENST00000539363.1_Intron	p.H48Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			2	317	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		48					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.142C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465158	0.43839	.	.	ENSG00000143127	ENST00000369304	T	0.71934	-0.61	4.87	3.95	0.45737	.	0.064498	0.64402	N	0.000011	T	0.63943	0.2554	L	0.39467	1.215	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.87578	0.998;0.979	T	0.62139	-0.6917	10	0.18710	T	0.47	.	8.8416	0.35146	0.0:0.8977:0.0:0.1023	.	48;48	O75578;O75578-2	ITA10_HUMAN;.	Y	48	ENSP00000358310:H48Y	ENSP00000358310:H48Y	H	+	1	0	ITGA10	144239059	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.102000	0.41796	1.269000	0.44280	0.655000	0.94253	CAT		0.537	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		41	39	0	0	0	1	0	41	39				
XIST	7503	broad.mit.edu	37	X	73064107	73064107	+	lincRNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73064107C>T	ENST00000429829.1	-	0	8481					NR_001564.2				X inactive specific transcript (non-protein coding)																		TGATTACATACATTAATGTCC	0.383																																						ENST00000429829.1																			0																				228.0	213.0	218.0					X																	73064107		876	1991	2867			0							g.chrX:73064107C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064107C>T								NR_001564.2						0	8481	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.383	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		22	180	0	0	0	1	0	22	180				
CXADR	1525	broad.mit.edu	37	21	18919457	18919457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18919457G>A	ENST00000284878.7	+	2	904	c.156G>A	c.(154-156)ccG>ccA	p.P52P	CXADR_ENST00000356275.6_Silent_p.P52P|CXADR_ENST00000400169.1_Silent_p.P52P|CXADR_ENST00000400165.1_Silent_p.P52P|CXADR_ENST00000306618.10_Silent_p.P52P|CXADR_ENST00000400166.1_Silent_p.P52P	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	52	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACCAGGGACCGCTGGACATCG	0.468																																						ENST00000284878.7																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(154-156)ccG>ccA		coxsackie virus and adenovirus receptor							89.0	76.0	81.0					21																	18919457		2203	4300	6503	SO:0001819	synonymous_variant	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18919457G>A	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.156G>A	21.37:g.18919457G>A						CXADR_ENST00000356275.6_Silent_p.P52P|CXADR_ENST00000400166.1_Silent_p.P52P|CXADR_ENST00000306618.10_Silent_p.P52P|CXADR_ENST00000400165.1_Silent_p.P52P|CXADR_ENST00000400169.1_Silent_p.P52P	p.P52P	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	2	904	+			52			Ig-like C2-type 1.		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	ENST00000284878.7	37	c.156G>A	CCDS33519.1																																																																																				0.468	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			35	31	0	0	0	1	0	35	31				
KIF1A	547	broad.mit.edu	37	2	241685311	241685311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241685311C>T	ENST00000320389.7	-	29	3073	c.2915G>A	c.(2914-2916)gGc>gAc	p.G972D	KIF1A_ENST00000498729.2_Missense_Mutation_p.G1073D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	972					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGAGGAGGCCTTCTGGGGG	0.632																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3217-3219)gGc>gAc		kinesin family member 1A							28.0	34.0	32.0					2																	241685311		1957	4141	6098	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241685311C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2915G>A	2.37:g.241685311C>T	ENSP00000322791:p.Gly972Asp					KIF1A_ENST00000320389.7_Missense_Mutation_p.G972D	p.G1073D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	31	3464	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	972					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.3218G>A	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.234|9.234	1.036508|1.036508	0.19669|0.19669	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000415042|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.72725	.|-0.68;-0.68;-0.68	4.27|4.27	3.23|3.23	0.37069|0.37069	.|.	.|0.883639	.|0.09635	.|U	.|0.775757	T|T	0.56920|0.56920	0.2018|0.2018	L|L	0.43152|0.43152	1.355|1.355	0.26833|0.26833	N|N	0.968539|0.968539	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.001;0.0	T|T	0.45116|0.45116	-0.9283|-0.9283	5|10	.|0.33940	.|T	.|0.23	.|.	1.6035|1.6035	0.02679|0.02679	0.3447:0.3873:0.0:0.268|0.3447:0.3873:0.0:0.268	.|.	.|1073;1073;972	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	T|D	99|972;1073;1073;1073	.|ENSP00000322791:G972D;ENSP00000438388:G1073D;ENSP00000384231:G1073D	.|ENSP00000322791:G972D	A|G	-|-	1|2	0|0	KIF1A|KIF1A	241333984|241333984	0.146000|0.146000	0.22672|0.22672	0.999000|0.999000	0.59377|0.59377	0.789000|0.789000	0.44602|0.44602	1.190000|1.190000	0.32126|0.32126	1.929000|1.929000	0.55896|0.55896	0.313000|0.313000	0.20887|0.20887	GCC|GGC		0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		12	9	0	0	0	1	0	12	9				
PPP1R9A	55607	broad.mit.edu	37	7	94915538	94915538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915538C>A	ENST00000433881.1	+	13	3310	c.2778C>A	c.(2776-2778)gaC>gaA	p.D926E	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D926E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.D1132E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D1210E			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	926	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAATGATGACTTCAGTCCCA	0.453										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(3394-3396)gaC>gaA		protein phosphatase 1, regulatory subunit 9A							92.0	83.0	86.0					7																	94915538		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94915538C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2778C>A	7.37:g.94915538C>A	ENSP00000398870:p.Asp926Glu	HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D926E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D1210E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D926E	p.D1132E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	3612	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		926					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.3396C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024295	0.35701	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.17691	2.26;2.49;2.42;2.49;2.31;2.42	5.26	1.46	0.22682	.	0.134780	0.48286	N	0.000194	T	0.05364	0.0142	N	0.01705	-0.755	0.23959	N	0.996341	B;P;B;B;B;B	0.39376	0.002;0.67;0.347;0.018;0.018;0.001	B;B;B;B;B;B	0.39562	0.004;0.303;0.069;0.016;0.007;0.004	T	0.18023	-1.0350	10	0.46703	T	0.11	.	3.0528	0.06174	0.1177:0.5103:0.1148:0.2572	.	926;1132;1210;1150;1150;926	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	E	1210;926;1150;926;1132;1150	ENSP00000405514:D1210E;ENSP00000344524:D926E;ENSP00000411342:D1150E;ENSP00000398870:D926E;ENSP00000289495:D1132E;ENSP00000402893:D1150E	ENSP00000289495:D1132E	D	+	3	2	PPP1R9A	94753474	0.827000	0.29292	1.000000	0.80357	0.920000	0.55202	-0.149000	0.10204	0.463000	0.27118	-0.182000	0.12963	GAC		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		27	17	1	0	6.32553e-13	1	7.99037e-13	27	17				
SPPL2A	84888	broad.mit.edu	37	15	51031993	51031993	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51031993C>A	ENST00000261854.5	-	6	891	c.617G>T	c.(616-618)aGa>aTa	p.R206I		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	206					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTCATTTCTCTATCTTCAGT	0.318																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(616-618)aGa>aTa		signal peptide peptidase like 2A							112.0	113.0	113.0					15																	51031993		2196	4290	6486	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51031993C>A		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.617G>T	15.37:g.51031993C>A	ENSP00000261854:p.Arg206Ile						p.R206I	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	6	891	-			206					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.617G>T	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	C	8.569	0.879645	0.17467	.	.	ENSG00000138600	ENST00000261854	T	0.12465	2.68	5.46	4.55	0.56014	.	0.117421	0.64402	D	0.000004	T	0.07098	0.0180	N	0.08118	0	0.49582	D	0.999805	B	0.02656	0.0	B	0.06405	0.002	T	0.24693	-1.0153	10	0.37606	T	0.19	-7.5755	9.2766	0.37703	0.0:0.6612:0.2649:0.0739	.	206	Q8TCT8	PSL2_HUMAN	I	206	ENSP00000261854:R206I	ENSP00000261854:R206I	R	-	2	0	AC012100.1	48819285	0.809000	0.29036	0.923000	0.36655	0.195000	0.23768	0.799000	0.27028	1.302000	0.44855	0.561000	0.74099	AGA		0.318	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		5	29	1	0	0.014758	1	0.0152625	5	29				
HLCS	3141	broad.mit.edu	37	21	38309032	38309032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309032G>A	ENST00000399120.1	-	5	1943	c.713C>T	c.(712-714)tCt>tTt	p.S238F	HLCS_ENST00000336648.4_Missense_Mutation_p.S238F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	238					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.S238F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCCTCCCTGAGAAAGATAGGC	0.532																																						ENST00000399120.1																			1	Substitution - Missense(1)	p.S238F(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(712-714)tCt>tTt		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						72.0	74.0	73.0					21																	38309032		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309032G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.713C>T	21.37:g.38309032G>A	ENSP00000382071:p.Ser238Phe					HLCS_ENST00000336648.3_Missense_Mutation_p.S238F	p.S238F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	1943	-		Myeloproliferative disorder(46;0.0422)	238					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.713C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437430	0.62955	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98329	-4.87;-4.87	5.91	3.99	0.46301	.	0.410373	0.31323	N	0.007857	D	0.97726	0.9254	M	0.76574	2.34	0.47037	D	0.999298	D;D	0.56287	0.975;0.969	P;P	0.50231	0.59;0.635	D	0.96765	0.9564	10	0.34782	T	0.22	.	12.519	0.56048	0.0:0.1273:0.7403:0.1324	.	238;238	B2RAH1;P50747	.;BPL1_HUMAN	F	238	ENSP00000382071:S238F;ENSP00000338387:S238F	ENSP00000338387:S238F	S	-	2	0	HLCS	37230902	0.979000	0.34478	0.658000	0.29665	0.987000	0.75469	3.079000	0.50104	1.489000	0.48450	0.655000	0.94253	TCT		0.532	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			22	27	0	0	0	1	0	22	27				
TCF3	6929	broad.mit.edu	37	19	1615383	1615383	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1615383T>C	ENST00000262965.5	-	18	2067	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V	TCF3_ENST00000344749.5_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.M579V|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTGGCACATGCGCCCCAGC	0.632			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1723-1725)Atg>Gtg		transcription factor 3							101.0	99.0	100.0					19																	1615383		2203	4300	6503	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615383T>C	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1723A>G	19.37:g.1615383T>C	ENSP00000262965:p.Met575Val					TCF3_ENST00000395423.3_Missense_Mutation_p.M579V|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron	p.M575V	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2067	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	575			Helix-loop-helix motif.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1723A>G	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667506	0.67814	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.97831	-4.56;-4.56	4.43	3.41	0.39046	Helix-loop-helix DNA-binding (5);	0.086895	0.85682	D	0.000000	D	0.97742	0.9259	M	0.64997	1.995	0.80722	D	1	B;D;B	0.53462	0.017;0.96;0.416	B;D;B	0.63597	0.037;0.916;0.238	D	0.97035	0.9753	10	0.87932	D	0	-9.5377	8.9513	0.35790	0.0:0.0902:0.0:0.9098	.	575;579;512	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	V	575;579	ENSP00000262965:M575V;ENSP00000378813:M579V	ENSP00000262965:M575V	M	-	1	0	TCF3	1566383	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.036000	0.70948	0.560000	0.29169	0.454000	0.30748	ATG		0.632	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		5	102	0	0	0	1	0	5	102				
GCDH	2639	broad.mit.edu	37	19	13008660	13008660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13008660C>T	ENST00000222214.5	+	11	1437	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	GCDH_ENST00000591470.1_Missense_Mutation_p.A409V|GCDH_ENST00000457854.1_Missense_Mutation_p.A409V|GCDH_ENST00000422947.2_Missense_Mutation_p.A365V			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	409					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	AACCTGGAGGCCGTGAACACC	0.632																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(1225-1227)gCc>gTc		glutaryl-CoA dehydrogenase							37.0	39.0	38.0					19																	13008660		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008660C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1226C>T	19.37:g.13008660C>T	ENSP00000222214:p.Ala409Val					GCDH_ENST00000422947.2_Missense_Mutation_p.A365V|GCDH_ENST00000591470.1_Missense_Mutation_p.A409V|GCDH_ENST00000457854.1_Missense_Mutation_p.A409V	p.A409V			Q92947	GCDH_HUMAN			11	1437	+			409					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.1226C>T	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113049	0.56398	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.95656	-3.77;-3.77;-3.77	5.75	5.75	0.90469	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.279857	0.39687	N	0.001292	D	0.91918	0.7441	N	0.20881	0.62	0.58432	D	0.999995	P;P;P;P	0.47962	0.513;0.692;0.903;0.799	B;B;P;P	0.44990	0.101;0.134;0.466;0.454	D	0.90070	0.4162	10	0.13853	T	0.58	.	17.4356	0.87550	0.0:1.0:0.0:0.0	.	365;245;409;409	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	V	409;409;365	ENSP00000394872:A409V;ENSP00000222214:A409V;ENSP00000394821:A365V	ENSP00000222214:A409V	A	+	2	0	GCDH	12869660	1.000000	0.71417	0.792000	0.32020	0.532000	0.34746	5.786000	0.69006	2.720000	0.93068	0.655000	0.94253	GCC		0.632	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			12	27	0	0	0	1	0	12	27				
DEK	7913	broad.mit.edu	37	6	18258281	18258281	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18258281T>C	ENST00000397239.3	-	4	707	c.260A>G	c.(259-261)aAa>aGa	p.K87R	DEK_ENST00000244776.7_Missense_Mutation_p.K53R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	87					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTCACAAAGTTTCTGCCCCTT	0.318			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(259-261)aAa>aGa		DEK oncogene							63.0	62.0	62.0					6																	18258281		2202	4298	6500	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18258281T>C	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.260A>G	6.37:g.18258281T>C	ENSP00000380414:p.Lys87Arg					DEK_ENST00000244776.7_Missense_Mutation_p.K53R	p.K87R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		4	707	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	87					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.260A>G	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730361	0.48939	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715;ENST00000515742	T;T;T;T	0.50277	0.76;0.75;0.81;0.8	6.08	6.08	0.98989	.	0.040892	0.85682	D	0.000000	T	0.51363	0.1670	L	0.45352	1.415	0.48135	D	0.999599	D;D	0.63880	0.993;0.993	D;D	0.77557	0.99;0.99	T	0.43718	-0.9374	10	0.26408	T	0.33	-12.0285	16.6512	0.85203	0.0:0.0:0.0:1.0	.	53;87	B4DN37;P35659	.;DEK_HUMAN	R	87;53;20;92	ENSP00000380414:K87R;ENSP00000244776:K53R;ENSP00000425399:K20R;ENSP00000423553:K92R	ENSP00000244776:K53R	K	-	2	0	DEK	18366260	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.382000	0.66213	2.333000	0.79357	0.482000	0.46254	AAA		0.318	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			4	38	0	0	0	1	0	4	38				
NAPG	8774	broad.mit.edu	37	18	10550152	10550152	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10550152C>A	ENST00000322897.6	+	12	943	c.874C>A	c.(874-876)Cct>Act	p.P292T	NAPG_ENST00000542979.1_Missense_Mutation_p.P210T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	292					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						ACAGGCCAAGCCTGATGGTGT	0.478																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(874-876)Cct>Act		N-ethylmaleimide-sensitive factor attachment protein, gamma							67.0	68.0	68.0					18																	10550152		1970	4148	6118	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10550152C>A	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.874C>A	18.37:g.10550152C>A	ENSP00000324628:p.Pro292Thr					NAPG_ENST00000542979.1_Missense_Mutation_p.P210T	p.P292T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			12	943	+			292					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.874C>A	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457999	0.43634	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.29917	1.94;1.55	5.55	-1.28	0.09318	.	1.096950	0.06661	N	0.764526	T	0.09862	0.0242	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25710	-1.0124	10	0.25751	T	0.34	-4.3826	2.1107	0.03702	0.2722:0.174:0.4003:0.1534	.	292	Q99747	SNAG_HUMAN	T	292;210	ENSP00000324628:P292T;ENSP00000442849:P210T	ENSP00000324628:P292T	P	+	1	0	NAPG	10540152	0.169000	0.23002	0.000000	0.03702	0.903000	0.53119	0.685000	0.25378	0.049000	0.15920	-0.182000	0.12963	CCT		0.478	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		9	16	1	0	1.12685e-05	1	1.27857e-05	9	16				
SLC6A20	54716	broad.mit.edu	37	3	45801444	45801444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45801444C>T	ENST00000358525.4	-	10	1649	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I	SLC6A20_ENST00000353278.4_Missense_Mutation_p.V475I|SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000456124.2_Missense_Mutation_p.V512I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	512					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V475L(1)|p.V512L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTGGGCTTACGCCAGCCCAC	0.537																																						ENST00000358525.4																			2	Substitution - Missense(2)	p.V475L(1)|p.V512L(1)	large_intestine(2)	breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1534-1536)Gta>Ata		solute carrier family 6 (proline IMINO transporter), member 20							124.0	124.0	124.0					3																	45801444		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45801444C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1534G>A	3.37:g.45801444C>T	ENSP00000346298:p.Val512Ile					SLC6A20_ENST00000353278.4_Missense_Mutation_p.V475I|SLC6A20_ENST00000456124.2_Missense_Mutation_p.V512I	p.V512I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	10	1649	-			512					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1534G>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	6.370	0.436320	0.12104	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.74315	-0.83;-0.83;-0.83	5.98	5.11	0.69529	.	0.133325	0.49916	D	0.000127	T	0.54806	0.1881	N	0.20304	0.555	0.29961	N	0.819369	B;B	0.31026	0.304;0.235	B;B	0.28709	0.056;0.093	T	0.50320	-0.8842	10	0.07644	T	0.81	.	11.3507	0.49585	0.0:0.8615:0.0:0.1385	.	475;512	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	I	475;512;512	ENSP00000296133:V475I;ENSP00000346298:V512I;ENSP00000404310:V512I	ENSP00000296133:V475I	V	-	1	0	SLC6A20	45776448	0.825000	0.29262	0.894000	0.35097	0.672000	0.39443	1.618000	0.36954	1.535000	0.49220	0.591000	0.81541	GTA		0.537	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		39	62	0	0	0	1	0	39	62				
NFATC4	4776	broad.mit.edu	37	14	24839193	24839193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839193G>A	ENST00000250373.4	+	2	730	c.589G>A	c.(589-591)Gag>Aag	p.E197K	NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000424781.2_Missense_Mutation_p.E210K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E127K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E229K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E197K|NFATC4_ENST00000539237.2_Missense_Mutation_p.E229K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E127K|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000553708.1_Missense_Mutation_p.E197K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E260K|NFATC4_ENST00000555590.1_Missense_Mutation_p.E210K|NFATC4_ENST00000555453.1_Missense_Mutation_p.E185K|NFATC4_ENST00000422617.3_Missense_Mutation_p.E185K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E127K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E185K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E127K|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000413692.2_Missense_Mutation_p.E260K|NFATC4_ENST00000553469.1_Missense_Mutation_p.E229K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E210K	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	197	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGCGACGAGGTGGAGTC	0.682																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(778-780)Gag>Aag		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							24.0	26.0	26.0					14																	24839193		2186	4284	6470	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839193G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.589G>A	14.37:g.24839193G>A	ENSP00000250373:p.Glu197Lys					NFATC4_ENST00000422617.3_Missense_Mutation_p.E185K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E127K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E260K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E210K|NFATC4_ENST00000555590.1_Missense_Mutation_p.E210K|NFATC4_ENST00000424781.2_Missense_Mutation_p.E210K|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.E229K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E197K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E197K|NFATC4_ENST00000539237.2_Missense_Mutation_p.E229K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E127K|NFATC4_ENST00000250373.4_Missense_Mutation_p.E197K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E127K|NFATC4_ENST00000555453.1_Missense_Mutation_p.E185K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E185K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E229K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E127K	p.E260K	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	922	+			197			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.778G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988569	0.93106	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	3.78	3.78	0.43462	.	0.000000	0.53938	D	0.000051	T	0.27454	0.0674	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.988;0.988;0.997;0.988;0.994;0.999;0.988;0.988;0.988;0.988;0.999;0.98;0.999;0.998	B;B;P;P;P;P;B;P;P;P;P;P;P;P	0.59171	0.365;0.365;0.693;0.464;0.693;0.853;0.365;0.736;0.736;0.649;0.853;0.548;0.808;0.647	T	0.02844	-1.1103	10	0.72032	D	0.01	-6.4547	13.4819	0.61340	0.0:0.0:1.0:0.0	.	185;185;229;229;210;210;210;260;260;185;229;174;260;197	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	K	260;260;210;210;210;229;229;229;197;197;197;174;127;127;127;185;127;185;185	ENSP00000388910:E260K;ENSP00000452039:E260K;ENSP00000451224:E210K;ENSP00000450644:E210K;ENSP00000388668:E210K;ENSP00000439350:E229K;ENSP00000452270:E229K;ENSP00000451502:E229K;ENSP00000451151:E197K;ENSP00000250373:E197K;ENSP00000450590:E197K;ENSP00000452352:E174K;ENSP00000452349:E127K;ENSP00000450469:E127K;ENSP00000450733:E127K;ENSP00000451454:E185K;ENSP00000451284:E127K;ENSP00000396788:E185K;ENSP00000450686:E185K	ENSP00000250373:E197K	E	+	1	0	NFATC4	23909033	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	8.754000	0.91642	2.093000	0.63338	0.467000	0.42956	GAG		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		15	19	0	0	0	1	0	15	19				
DST	667	broad.mit.edu	37	6	56401697	56401697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56401697C>T	ENST00000361203.3	-	58	16024	c.16017G>A	c.(16015-16017)caG>caA	p.Q5339Q	DST_ENST00000244364.6_Silent_p.Q2927Q|DST_ENST00000370769.4_Silent_p.Q5341Q|DST_ENST00000446842.2_Silent_p.Q5015Q|DST_ENST00000421834.2_Silent_p.Q3253Q|DST_ENST00000370788.2_Silent_p.Q3253Q|DST_ENST00000370754.5_Silent_p.Q5519Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5339					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACATCTTGCTGTTTACCTT	0.408																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16555-16557)caG>caA		dystonin							145.0	135.0	138.0					6																	56401697		1935	4142	6077	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56401697C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16017G>A	6.37:g.56401697C>T						DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.Q5341Q|DST_ENST00000421834.2_Silent_p.Q3253Q|DST_ENST00000370788.2_Silent_p.Q3253Q|DST_ENST00000244364.6_Silent_p.Q2927Q|DST_ENST00000361203.3_Silent_p.Q5339Q|DST_ENST00000446842.2_Silent_p.Q5015Q|DST_ENST00000340834.4_5'UTR	p.Q5519Q			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		62	16556	-	Lung NSC(77;0.103)		5339					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.16557G>A																																																																																					0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		30	38	0	0	0	1	0	30	38				
RTN4RL1	146760	broad.mit.edu	37	17	1840818	1840818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840818C>T	ENST00000331238.6	-	2	777	c.298G>A	c.(298-300)Gtg>Atg	p.V100M		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCAGGTGCACGAAGCCCTCG	0.647																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(298-300)Gtg>Atg		reticulon 4 receptor-like 1							66.0	74.0	71.0					17																	1840818		2201	4300	6501	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840818C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.298G>A	17.37:g.1840818C>T	ENSP00000330631:p.Val100Met						p.V100M	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	316	-			100						Missense_Mutation	SNP	ENST00000331238.6	37	c.298G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872333	0.51695	.	.	ENSG00000185924	ENST00000331238	T	0.02552	4.25	5.48	5.48	0.80851	.	0.000000	0.35525	N	0.003154	T	0.10465	0.0256	L	0.60904	1.88	0.34016	D	0.65208	D	0.67145	0.996	P	0.60609	0.877	T	0.02721	-1.1119	10	0.51188	T	0.08	.	14.6128	0.68526	0.0:0.9282:0.0:0.0718	.	100	Q86UN2	R4RL1_HUMAN	M	100	ENSP00000330631:V100M	ENSP00000330631:V100M	V	-	1	0	RTN4RL1	1787568	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	2.665000	0.46791	2.601000	0.87937	0.644000	0.83932	GTG		0.647	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		10	20	0	0	0	1	0	10	20				
PCDH18	54510	broad.mit.edu	37	4	138442723	138442723	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:138442723C>T	ENST00000344876.4	-	4	3254	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	PCDH18_ENST00000412923.2_Silent_p.T955T|PCDH18_ENST00000507846.1_Silent_p.T735T|PCDH18_ENST00000510305.1_Silent_p.T167T|PCDH18_ENST00000511115.1_Silent_p.T136T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	956	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T956T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGGGGTTGCGTTGGGAATT	0.517																																						ENST00000344876.4																			1	Substitution - coding silent(1)	p.T956T(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2866-2868)acG>acA		protocadherin 18							129.0	124.0	126.0					4																	138442723		2203	4300	6503	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442723C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2868G>A	4.37:g.138442723C>T						PCDH18_ENST00000507846.1_Silent_p.T735T|PCDH18_ENST00000412923.2_Silent_p.T955T|PCDH18_ENST00000511115.1_Silent_p.T136T|PCDH18_ENST00000510305.1_Silent_p.T167T	p.T956T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3254	-	all_hematologic(180;0.24)		956			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.2868G>A	CCDS34064.1																																																																																				0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		33	86	0	0	0	1	0	33	86				
WDR77	79084	broad.mit.edu	37	1	111989719	111989719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111989719C>T	ENST00000235090.5	-	4	697	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	WDR77_ENST00000411751.2_Intron|ATP5F1_ENST00000483994.1_5'Flank|ATP5F1_ENST00000369722.3_5'Flank|Y_RNA_ENST00000363020.1_RNA|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	164					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATACTCACCTCGGTATGAACT	0.398																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(490-492)cGa>cAa		WD repeat domain 77							148.0	137.0	141.0					1																	111989719		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111989719C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.491G>A	1.37:g.111989719C>T	ENSP00000235090:p.Arg164Gln					WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	p.R164Q	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	697	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	164					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.491G>A	CCDS835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.39|18.39	3.614002|3.614002	0.66672|0.66672	.|.	.|.	ENSG00000116455|ENSG00000116455	ENST00000449340|ENST00000235090	.|T	.|0.60672	.|0.17	5.67|5.67	5.67|5.67	0.87782|0.87782	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.325270	.|0.33199	.|N	.|0.005163	T|T	0.35566|0.35566	0.0936|0.0936	L|L	0.35854|0.35854	1.095|1.095	0.80722|0.80722	D|D	1|1	.|D	.|0.55385	.|0.971	.|P	.|0.45310	.|0.476	T|T	0.14504|0.14504	-1.0470|-1.0470	5|10	.|0.12430	.|T	.|0.62	-16.3112|-16.3112	14.2364|14.2364	0.65929|0.65929	0.1492:0.8508:0.0:0.0|0.1492:0.8508:0.0:0.0	.|.	.|164	.|Q9BQA1	.|MEP50_HUMAN	K|Q	101|164	.|ENSP00000235090:R164Q	.|ENSP00000235090:R164Q	E|R	-|-	1|2	0|0	WDR77|WDR77	111791242|111791242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.760000|0.760000	0.43138|0.43138	2.429000|2.429000	0.44758|0.44758	2.689000|2.689000	0.91719|0.91719	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.398	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		34	86	0	0	0	1	0	34	86				
LRP1B	53353	broad.mit.edu	37	2	141641410	141641410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141641410G>A	ENST00000389484.3	-	25	5116	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1382					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAGCAATGGCCCTGGGGTG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4144-4146)gCc>gTc		low density lipoprotein receptor-related protein 1B							140.0	143.0	142.0					2																	141641410		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641410G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4145C>T	2.37:g.141641410G>A	ENSP00000374135:p.Ala1382Val	TSP Lung(27;0.18)					p.A1382V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	5116	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1382					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4145C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930842	0.92389	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96885	-4.16;-4.16	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	0.985;1.0	D;D	0.87578	0.954;0.998	D	0.99097	1.0842	10	0.66056	D	0.02	.	20.0553	0.97649	0.0:0.0:1.0:0.0	.	565;1382	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	1382;1320;527	ENSP00000374135:A1382V;ENSP00000413239:A527V	ENSP00000374135:A1382V	A	-	2	0	LRP1B	141357880	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.722000	0.98770	2.803000	0.96430	0.655000	0.94253	GCC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		40	73	0	0	0	1	0	40	73				
PRKCI	5584	broad.mit.edu	37	3	170002337	170002337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170002337C>A	ENST00000295797.4	+	12	1461	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CAATGTATTACTGGACTCTGA	0.338																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1156-1158)Ctg>Atg		protein kinase C, iota							61.0	60.0	61.0					3																	170002337		2203	4297	6500	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170002337C>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1156C>A	3.37:g.170002337C>A	ENSP00000295797:p.Leu386Met						p.L386M	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		12	1461	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		386			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1156C>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469208	0.63625	.	.	ENSG00000163558	ENST00000295797	T	0.70749	-0.51	5.39	1.6	0.23607	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73436	-0.3983	9	.	.	.	.	8.6788	0.34196	0.0:0.6417:0.0:0.3583	.	386	P41743	KPCI_HUMAN	M	386	ENSP00000295797:L386M	.	L	+	1	2	PRKCI	171485031	0.994000	0.37717	0.998000	0.56505	0.962000	0.63368	1.191000	0.32138	0.357000	0.24183	0.585000	0.79938	CTG		0.338	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		6	63	1	0	0.00116845	1	0.00124821	6	63				
DPF3	8110	broad.mit.edu	37	14	73159848	73159848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73159848C>A	ENST00000556509.1	-	7	677	c.678G>T	c.(676-678)gaG>gaT	p.E226D	DPF3_ENST00000546183.1_Missense_Mutation_p.E236D|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.E226D	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	226					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCATCCCCCTCCTCGCTGG	0.552																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(676-678)gaG>gaT		D4, zinc and double PHD fingers, family 3							166.0	171.0	169.0					14																	73159848		2078	4227	6305	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73159848C>A	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.678G>T	14.37:g.73159848C>A	ENSP00000450518:p.Glu226Asp					DPF3_ENST00000546183.1_Missense_Mutation_p.E236D|DPF3_ENST00000556509.1_Missense_Mutation_p.E226D|DPF3_ENST00000557704.1_5'UTR	p.E226D	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	7	690	-			226					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.678G>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.276218	0.80580	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91124	-2.79;-0.27;-0.28	5.49	-0.152	0.13407	Zinc finger, C2H2 (1);	.	.	.	.	D	0.92795	0.7709	M	0.67700	2.07	0.51012	D	0.999908	D;D;P	0.64830	0.99;0.994;0.956	D;P;P	0.64410	0.925;0.793;0.899	D	0.90944	0.4800	9	0.66056	D	0.02	.	10.814	0.46564	0.0:0.5074:0.0:0.4926	.	236;226;226	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	D	226;225;226;236	ENSP00000450518:E226D;ENSP00000441640:E226D;ENSP00000444662:E236D	ENSP00000381791:E281D	E	-	3	2	DPF3	72229601	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	0.521000	0.22893	0.005000	0.14708	0.561000	0.74099	GAG		0.552	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			6	97	1	0	8.12818e-05	1	8.99451e-05	6	97				
ATP13A2	23400	broad.mit.edu	37	1	17322537	17322537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17322537G>A	ENST00000326735.8	-	15	1509	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Silent_p.G487G|ATP13A2_ENST00000452699.1_Silent_p.G487G|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	492					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCAGAAAATGCCCTGTCTCC	0.657																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1459-1461)ggC>ggT		ATPase type 13A2							86.0	89.0	88.0					1																	17322537		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322537G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1476C>T	1.37:g.17322537G>A						ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.G487G|ATP13A2_ENST00000326735.8_Silent_p.G492G	p.G487G	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	15	1650	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	492					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.1461C>T	CCDS175.1																																																																																				0.657	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		5	74	0	0	0	1	0	5	74				
USP47	55031	broad.mit.edu	37	11	11961975	11961975	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11961975G>T	ENST00000399455.2	+	20	2373		c.e20-1		USP47_ENST00000339865.5_Splice_Site|USP47_ENST00000539466.1_Splice_Site|USP47_ENST00000527733.1_Splice_Site	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTCATTATAGGCCATCCATT	0.368																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.e18-1		ubiquitin specific peptidase 47							78.0	72.0	74.0					11																	11961975		1836	4074	5910	SO:0001630	splice_region_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11961975G>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2254-1G>T	11.37:g.11961975G>T						USP47_ENST00000527733.1_Splice_Site|USP47_ENST00000539466.1_Splice_Site|USP47_ENST00000399455.2_Splice_Site		NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	18	2752	+								B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Splice_Site	SNP	ENST00000399455.2	37			.	.	.	.	.	.	.	.	.	.	G	18.36	3.606344	0.66445	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2911	0.94100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP47	11918551	1.000000	0.71417	0.964000	0.40570	0.705000	0.40729	9.294000	0.96088	2.654000	0.90174	0.650000	0.86243	.		0.368	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	Intron	4	70	1	0	0.00909568	1	0.00947522	4	70				
OR4K5	79317	broad.mit.edu	37	14	20389691	20389691	+	Missense_Mutation	SNP	G	G	A	rs140004714		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389691G>A	ENST00000315915.4	+	1	951	c.926G>A	c.(925-927)aGg>aAg	p.R309K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAGGCCAAGGAGAATTTCT	0.373																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(925-927)aGg>aAg		olfactory receptor, family 4, subfamily K, member 5							87.0	99.0	95.0					14																	20389691		2203	4298	6501	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389691G>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.926G>A	14.37:g.20389691G>A	ENSP00000319511:p.Arg309Lys						p.R309K	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	951	+	all_cancers(95;0.00108)		309					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.926G>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	0.361	-0.939320	0.02322	.	.	ENSG00000176281	ENST00000315915	T	0.37235	1.21	3.66	1.11	0.20524	.	1.050530	0.07520	N	0.910468	T	0.24967	0.0606	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28554	-1.0040	10	0.21540	T	0.41	.	4.3273	0.11046	0.6768:0.2024:0.1207:0.0	.	309	Q8NGD3	OR4K5_HUMAN	K	309	ENSP00000319511:R309K	ENSP00000319511:R309K	R	+	2	0	OR4K5	19459531	.	.	0.000000	0.03702	0.036000	0.12997	.	.	0.102000	0.17638	-0.312000	0.09012	AGG		0.373	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		31	98	0	0	0	1	0	31	98				
MCM7	4176	broad.mit.edu	37	7	99695537	99695537	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695537C>A	ENST00000303887.5	-	8	1550	c.905G>T	c.(904-906)cGg>cTg	p.R302L	MCM7_ENST00000354230.3_Missense_Mutation_p.R126L|MCM7_ENST00000343023.6_Missense_Mutation_p.R302L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	302					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCACAATCCGATGGGCTTC	0.522																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(904-906)cGg>cTg		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						114.0	105.0	108.0					7																	99695537		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99695537C>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.905G>T	7.37:g.99695537C>A	ENSP00000307288:p.Arg302Leu					MCM7_ENST00000354230.3_Missense_Mutation_p.R126L|MCM7_ENST00000343023.6_Missense_Mutation_p.R302L	p.R302L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			8	1550	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		302					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.905G>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070949	0.55646	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T;T	0.11169	2.8;4.1;3.74	4.45	4.45	0.53987	Nucleic acid-binding, OB-fold (1);	0.188543	0.47455	D	0.000238	T	0.14787	0.0357	M	0.61703	1.905	0.43172	D	0.994979	B	0.15141	0.012	B	0.20767	0.031	T	0.02860	-1.1101	10	0.46703	T	0.11	-24.8663	14.6446	0.68751	0.0:1.0:0.0:0.0	.	302	P33993	MCM7_HUMAN	L	302;302;239;195;126	ENSP00000344006:R302L;ENSP00000307288:R302L;ENSP00000346171:R126L	ENSP00000307288:R302L	R	-	2	0	MCM7	99533473	0.979000	0.34478	0.956000	0.39512	0.985000	0.73830	2.164000	0.42387	2.319000	0.78375	0.313000	0.20887	CGG		0.522	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			6	78	1	0	0.248553	1	0.25002	6	78				
SYNJ2	8871	broad.mit.edu	37	6	158449920	158449920	+	Missense_Mutation	SNP	G	G	A	rs376223674		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158449920G>A	ENST00000355585.4	+	3	422	c.347G>A	c.(346-348)cGc>cAc	p.R116H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R116H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R116H|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R65H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	116					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGGAGGAACGCCTCATAGCT	0.507																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(346-348)cGc>cAc		synaptojanin 2		G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	74.0	74.0		,347	4.9	0.1	6		74	0,8600		0,0,4300	no	utr-5,missense	SYNJ2	NM_001178088.1,NM_003898.3	,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,probably-damaging	,116/1497	158449920	1,13005	2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158449920G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.347G>A	6.37:g.158449920G>A	ENSP00000347792:p.Arg116His					SYNJ2_ENST00000449859.2_Missense_Mutation_p.R65H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R116H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R116H	p.R116H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	422	+			116					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.347G>A	CCDS5254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.10|18.10	3.547970|3.547970	0.65311|0.65311	2.27E-4|2.27E-4	0.0|0.0	ENSG00000078269|ENSG00000078269	ENST00000367113|ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449320;ENST00000449859	.|T;T;T;T;T	.|0.58060	.|0.36;0.36;0.36;0.36;0.36	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Synaptojanin, N-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000018	T|T	0.70789|0.70789	0.3264|0.3264	M|M	0.89095|0.89095	3.005|3.005	0.43913|0.43913	D|D	0.996554|0.996554	.|D;D;D;D	.|0.89917	.|1.0;0.995;1.0;1.0	.|D;P;D;D	.|0.91635	.|0.999;0.903;0.999;0.998	T|T	0.74127|0.74127	-0.3765|-0.3765	5|10	.|0.87932	.|D	.|0	.|.	18.2156|18.2156	0.89884|0.89884	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|65;116;116;116	.|B4DJU8;E7ER60;O15056;O15056-3	.|.;.;SYNJ2_HUMAN;.	T|H	91|116;116;116;65;65	.|ENSP00000356089:R116H;ENSP00000356088:R116H;ENSP00000347792:R116H;ENSP00000411202:R65H;ENSP00000388371:R65H	.|ENSP00000347792:R116H	A|R	+|+	1|2	0|0	SYNJ2|SYNJ2	158369908|158369908	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.068000|0.068000	0.16541|0.16541	9.098000|9.098000	0.94202|0.94202	-1.039000|-1.039000	0.03275|0.03275	-0.165000|-0.165000	0.13383|0.13383	GCC|CGC		0.507	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			23	26	0	0	0	1	0	23	26				
NPR2	4882	broad.mit.edu	37	9	35807348	35807348	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35807348C>A	ENST00000342694.2	+	18	2920	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M	SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	889	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTTAATGACCTGTATACCTG	0.428																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2665-2667)Ctg>Atg		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						214.0	215.0	214.0					9																	35807348		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35807348C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2665C>A	9.37:g.35807348C>A	ENSP00000341083:p.Leu889Met						p.L889M	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		18	2920	+	all_epithelial(49;0.161)		889			Guanylate cyclase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.2665C>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515033	0.85389	.	.	ENSG00000159899	ENST00000342694;ENST00000447210	D;D	0.82984	-1.67;-1.67	6.17	6.17	0.99709	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.36002	N	0.002859	D	0.92450	0.7603	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92308	0.5855	10	0.66056	D	0.02	.	19.4575	0.94900	0.0:1.0:0.0:0.0	.	889;889	P20594-2;P20594	.;ANPRB_HUMAN	M	889;148	ENSP00000341083:L889M;ENSP00000393029:L148M	ENSP00000341083:L889M	L	+	1	2	NPR2	35797348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.850000	0.62889	2.941000	0.99782	0.655000	0.94253	CTG		0.428	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			58	126	1	0	3.30712e-30	1	4.43e-30	58	126				
ATP10D	57205	broad.mit.edu	37	4	47517672	47517672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47517672C>A	ENST00000273859.3	+	3	739	c.470C>A	c.(469-471)aCt>aAt	p.T157N	ATP10D_ENST00000504445.1_Missense_Mutation_p.T157N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	157					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATTTAATAACTAAAGTTTAT	0.338																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(469-471)aCt>aAt		ATPase, class V, type 10D							47.0	50.0	49.0					4																	47517672		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47517672C>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.470C>A	4.37:g.47517672C>A	ENSP00000273859:p.Thr157Asn					ATP10D_ENST00000504445.1_Missense_Mutation_p.T157N	p.T157N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			3	739	+			157					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.470C>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055318	0.55325	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.76578	-1.03;-1.03	5.38	5.38	0.77491	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.136074	0.50627	D	0.000102	D	0.88916	0.6567	M	0.87097	2.86	0.33879	D	0.635845	D;D	0.58620	0.983;0.965	P;P	0.62885	0.908;0.908	D	0.92873	0.6316	10	0.54805	T	0.06	-21.2102	18.103	0.89512	0.0:1.0:0.0:0.0	.	157;157	Q9P241;Q6PEW3	AT10D_HUMAN;.	N	157	ENSP00000273859:T157N;ENSP00000420909:T157N	ENSP00000273859:T157N	T	+	2	0	ATP10D	47212429	0.997000	0.39634	1.000000	0.80357	0.610000	0.37248	4.313000	0.59160	2.513000	0.84729	0.655000	0.94253	ACT		0.338	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		15	39	1	0	2.23348e-06	1	2.57349e-06	15	39				
NAA35	60560	broad.mit.edu	37	9	88590033	88590033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88590033G>A	ENST00000361671.5	+	8	721	c.588G>A	c.(586-588)atG>atA	p.M196I	NAA35_ENST00000376040.1_Missense_Mutation_p.M196I	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	196					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTCTAGGCATGCTAAAAGATG	0.299																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(586-588)atG>atA		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							185.0	187.0	186.0					9																	88590033		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88590033G>A	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.588G>A	9.37:g.88590033G>A	ENSP00000354972:p.Met196Ile					NAA35_ENST00000376040.1_Missense_Mutation_p.M196I	p.M196I	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			8	721	+			196					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.588G>A	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835821	0.91117	.	.	ENSG00000135040	ENST00000361671;ENST00000376040	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	L	0.42686	1.345	0.80722	D	1	P;P	0.51791	0.669;0.948	B;P	0.53102	0.272;0.718	T	0.54728	-0.8250	9	0.22109	T	0.4	-16.6955	20.1379	0.98040	0.0:0.0:1.0:0.0	.	196;196	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	I	196	.	ENSP00000354972:M196I	M	+	3	0	NAA35	87779853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.639000	0.91023	2.779000	0.95612	0.655000	0.94253	ATG		0.299	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		7	75	0	0	0	1	0	7	75				
NF1	4763	broad.mit.edu	37	17	29587487	29587487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29587487C>T	ENST00000358273.4	+	34	4914	c.4531C>T	c.(4531-4533)Ctc>Ttc	p.L1511F	NF1_ENST00000356175.3_Missense_Mutation_p.L1490F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1511					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATCGTCTACTCTGGAACAA	0.393			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4531-4533)Ctc>Ttc		neurofibromin 1							164.0	153.0	157.0					17																	29587487		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29587487C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4531C>T	17.37:g.29587487C>T	ENSP00000351015:p.Leu1511Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.L1490F	p.L1511F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	34	4914	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1511					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4531C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290344	0.80914	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.87729	-2.29;-2.29;-2.29	6.02	6.02	0.97574	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	M	0.77313	2.365	0.80722	D	1	D;D;D	0.69078	0.973;0.997;0.99	P;D;D	0.78314	0.685;0.991;0.969	D	0.90602	0.4545	10	0.27082	T	0.32	.	15.6449	0.77039	0.0:0.933:0.0:0.067	.	540;1490;1511	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	F	1511;1490;1156	ENSP00000351015:L1511F;ENSP00000348498:L1490F;ENSP00000389907:L1156F	ENSP00000348498:L1490F	L	+	1	0	NF1	26611613	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.407000	0.59754	2.857000	0.98124	0.650000	0.86243	CTC		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		59	100	0	0	0	1	0	59	100				
ARHGAP4	393	broad.mit.edu	37	X	153176003	153176003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153176003G>A	ENST00000350060.5	-	16	1920	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P449S|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P604S|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.P667S|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P606S	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	627	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGCACCGGCGCGGGCAGC	0.706																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1999-2001)Ccg>Tcg		Rho GTPase activating protein 4							9.0	13.0	12.0					X																	153176003		2063	4015	6078	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153176003G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1879C>T	X.37:g.153176003G>A	ENSP00000203786:p.Pro627Ser					ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P627S|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P604S|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P606S|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P449S	p.P667S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			17	2056	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		627			Rho-GAP.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1999C>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.512123	0.00153	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	4.46	-3.73	0.04398	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.713156	0.12217	N	0.488774	T	0.13543	0.0328	L	0.31294	0.92	0.09310	N	0.999997	B;B	0.27625	0.183;0.02	B;B	0.32805	0.153;0.099	T	0.36480	-0.9746	10	0.14252	T	0.57	.	10.8544	0.46789	0.2297:0.6119:0.1584:0.0	.	667;627	Q86UY3;P98171	.;RHG04_HUMAN	S	449;667;627;606;604	ENSP00000377322:P449S;ENSP00000359045:P667S;ENSP00000203786:P627S;ENSP00000359033:P606S;ENSP00000444169:P604S	ENSP00000203786:P627S	P	-	1	0	ARHGAP4	152829197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-1.489000	0.01844	-1.341000	0.01249	CCG		0.706	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		7	10	0	0	0	1	0	7	10				
MAP1B	4131	broad.mit.edu	37	5	71490623	71490623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71490623G>A	ENST00000296755.7	+	5	1739	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	481					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCAAACCCTGCGGAGAAAAT	0.463																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1441-1443)Gcg>Acg		microtubule-associated protein 1B							80.0	80.0	80.0					5																	71490623		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490623G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1441G>A	5.37:g.71490623G>A	ENSP00000296755:p.Ala481Thr						p.A481T	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1739	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	481					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.1441G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	0.240	-1.014675	0.02095	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.17691	2.26;2.26;2.26	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000015	T	0.04998	0.0134	N	0.01668	-0.77	0.42799	D	0.993926	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.01	T	0.31447	-0.9943	10	0.02654	T	1	-16.9632	8.9167	0.35585	0.0741:0.0:0.7769:0.1491	.	355;481	A2BDK6;P46821	.;MAP1B_HUMAN	T	481;498;355	ENSP00000296755:A481T;ENSP00000423444:A498T;ENSP00000423416:A355T	ENSP00000296755:A481T	A	+	1	0	MAP1B	71526379	0.997000	0.39634	0.992000	0.48379	0.820000	0.46376	2.622000	0.46427	2.644000	0.89710	0.563000	0.77884	GCG		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	83	0	0	0	1	0	9	83				
ARHGEF10L	55160	broad.mit.edu	37	1	18023646	18023646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18023646G>A	ENST00000361221.3	+	29	3770	c.3611G>A	c.(3610-3612)aGc>aAc	p.S1204N	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S907N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S977N	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1204						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGGAGCACAGCGAGGAGGAC	0.687																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3610-3612)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 10-like							15.0	16.0	16.0					1																	18023646		2201	4289	6490	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023646G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3611G>A	1.37:g.18023646G>A	ENSP00000355060:p.Ser1204Asn					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S977N|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S907N	p.S1204N	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3770	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1204					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3611G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202945	0.58234	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.61158	0.39;0.41;0.41;0.13;2.39	4.74	4.74	0.60224	.	0.573849	0.17600	N	0.168445	T	0.65729	0.2719	M	0.65498	2.005	0.38578	D	0.9501	P;P;P;B;P;P;P	0.48764	0.474;0.829;0.915;0.089;0.609;0.853;0.77	B;B;P;B;B;P;P	0.53185	0.131;0.425;0.72;0.083;0.258;0.592;0.51	T	0.68689	-0.5342	10	0.45353	T	0.12	-11.2318	11.2096	0.48790	0.0:0.186:0.814:0.0	.	977;977;907;965;1160;1165;1204	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	N	1204;1165;1165;977;977;907	ENSP00000355060:S1204N;ENSP00000399401:S1165N;ENSP00000364564:S1165N;ENSP00000364557:S977N;ENSP00000167825:S907N	ENSP00000167825:S907N	S	+	2	0	ARHGEF10L	17896233	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.540000	0.60664	2.163000	0.67991	0.655000	0.94253	AGC		0.687	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		13	9	0	0	0	1	0	13	9				
SYNE4	163183	broad.mit.edu	37	19	36499482	36499482	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36499482G>A	ENST00000324444.3	-	1	213	c.102C>T	c.(100-102)tgC>tgT	p.C34C	ALKBH6_ENST00000495116.2_5'Flank|SYNE4_ENST00000340477.5_Silent_p.C34C|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	34					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CGGACGCGGGGCAGACGGTGC	0.657																																						ENST00000324444.3																			0											c.(100-102)tgC>tgT		spectrin repeat containing, nuclear envelope family member 4							67.0	73.0	71.0					19																	36499482		1993	4158	6151	SO:0001819	synonymous_variant	163183							g.chr19:36499482G>A	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.102C>T	19.37:g.36499482G>A						SYNE4_ENST00000340477.5_Silent_p.C34C	p.C34C	NM_001039876.1	NP_001034965.1					1	213	-								A8MRS0|A8MYE3|Q7Z7L3	Silent	SNP	ENST00000324444.3	37	c.102C>T	CCDS42553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.834|5.834	0.338131|0.338131	0.11069|0.11069	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000503121|ENST00000397428	.|.	.|.	.|.	3.93|3.93	2.9|2.9	0.33743|0.33743	.|.	.|.	.|.	.|.	.|.	T|T	0.60157|0.60157	0.2247|0.2247	.|.	.|.	.|.	0.38817|0.38817	D|D	0.955557|0.955557	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62539|0.62539	-0.6833|-0.6833	4|5	.|0.52906	.|T	.|0.07	-22.6474|-22.6474	7.4296|7.4296	0.27120|0.27120	0.1163:0.0:0.8837:0.0|0.1163:0.0:0.8837:0.0	.|.	.|.	.|.	.|.	V|S	22|5	.|.	.|ENSP00000380572:P5S	A|P	-|-	2|1	0|0	C19orf46|C19orf46	41191322|41191322	0.028000|0.028000	0.19301|0.19301	0.080000|0.080000	0.20451|0.20451	0.017000|0.017000	0.09413|0.09413	0.668000|0.668000	0.25127|0.25127	1.248000|1.248000	0.43934|0.43934	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.657	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		36	39	0	0	0	1	0	36	39				
CITED2	10370	broad.mit.edu	37	6	139694780	139694780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139694780G>A	ENST00000367651.2	-	2	517	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CITED2_ENST00000537332.1_Missense_Mutation_p.P101L|CITED2_ENST00000536159.1_Missense_Mutation_p.P101L	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	101					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GGCCACCGGGGGACCCATGAA	0.657																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(301-303)cCc>cTc		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							46.0	53.0	51.0					6																	139694780		2192	4286	6478	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694780G>A	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.302C>T	6.37:g.139694780G>A	ENSP00000356623:p.Pro101Leu					CITED2_ENST00000536159.1_Missense_Mutation_p.P101L|CITED2_ENST00000537332.1_Missense_Mutation_p.P101L	p.P101L	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	517	-	Breast(32;0.226)		101					O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.302C>T	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361921	0.41801	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.75477	-0.94;-0.94;-0.94	5.28	5.28	0.74379	.	0.194474	0.34580	N	0.003851	T	0.64940	0.2644	L	0.34521	1.04	0.51767	D	0.999931	P	0.52577	0.954	P	0.48982	0.597	T	0.64149	-0.6475	9	.	.	.	-4.2404	18.9154	0.92503	0.0:0.0:1.0:0.0	.	101	Q99967	CITE2_HUMAN	L	101	ENSP00000356623:P101L;ENSP00000442831:P101L;ENSP00000444198:P101L	.	P	-	2	0	CITED2	139736473	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.270000	0.58896	2.488000	0.83962	0.462000	0.41574	CCC		0.657	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			16	19	0	0	0	1	0	16	19				
NUP85	79902	broad.mit.edu	37	17	73231231	73231231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73231231C>T	ENST00000245544.4	+	18	1875	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	NUP85_ENST00000540768.1_Missense_Mutation_p.R205W|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.R557W|NUP85_ENST00000579324.1_Missense_Mutation_p.R490W|NUP85_ENST00000541827.1_Missense_Mutation_p.R556W	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	602					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGAGTTGATGCGGTGTCTGGA	0.537																																						ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(1804-1806)Cgg>Tgg		nucleoporin 85kDa							149.0	135.0	140.0					17																	73231231		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73231231C>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1804C>T	17.37:g.73231231C>T	ENSP00000245544:p.Arg602Trp					NUP85_ENST00000579324.1_Missense_Mutation_p.R490W|NUP85_ENST00000579298.1_Missense_Mutation_p.R557W|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.R205W|NUP85_ENST00000541827.1_Missense_Mutation_p.R556W	p.R602W	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		18	1875	+	all_lung(278;0.14)|Lung NSC(278;0.168)		602					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.1804C>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053231	0.55218	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.12	2.94	0.34122	.	0.285503	0.40064	N	0.001199	T	0.61961	0.2389	L	0.52573	1.65	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.53549	0.729;0.625	T	0.67201	-0.5730	9	0.72032	D	0.01	-13.3406	13.3666	0.60687	0.3963:0.6037:0.0:0.0	.	556;602	B4DMQ3;Q9BW27	.;NUP85_HUMAN	W	602;556;205	.	ENSP00000245544:R602W	R	+	1	2	NUP85	70742826	0.993000	0.37304	0.999000	0.59377	0.433000	0.31745	1.553000	0.36255	1.173000	0.42796	0.462000	0.41574	CGG		0.537	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		15	26	0	0	0	1	0	15	26				
IRAK3	11213	broad.mit.edu	37	12	66641635	66641635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641635C>T	ENST00000261233.4	+	12	1896	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	IRAK3_ENST00000457197.2_Missense_Mutation_p.S431F	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTACTACCTTCTGATGAAGGC	0.428																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1474-1476)tCt>tTt		interleukin-1 receptor-associated kinase 3							123.0	118.0	120.0					12																	66641635		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641635C>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1475C>T	12.37:g.66641635C>T	ENSP00000261233:p.Ser492Phe					IRAK3_ENST00000457197.2_Missense_Mutation_p.S431F	p.S492F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1896	+			492						Missense_Mutation	SNP	ENST00000261233.4	37	c.1475C>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	5.135	0.210506	0.09757	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.73575	-0.71;-0.76	5.77	-11.5	0.00074	.	2.358220	0.01204	N	0.007648	T	0.54447	0.1859	N	0.14661	0.345	0.09310	N	1	B;B	0.20671	0.047;0.028	B;B	0.17979	0.02;0.005	T	0.41805	-0.9488	9	.	.	.	7.8291	15.3045	0.73982	0.1224:0.6817:0.196:0.0	.	431;492	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	F	492;431	ENSP00000261233:S492F;ENSP00000409852:S431F	.	S	+	2	0	IRAK3	64927902	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.076000	0.01373	-2.327000	0.00636	-1.383000	0.01170	TCT		0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			7	84	0	0	0	1	0	7	84				
SBNO1	55206	broad.mit.edu	37	12	123812039	123812039	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123812039G>T	ENST00000602398.1	-	13	1753	c.1626C>A	c.(1624-1626)acC>acA	p.T542T	SBNO1_ENST00000602750.1_Silent_p.T541T|SBNO1_ENST00000267176.4_Silent_p.T541T|SBNO1_ENST00000420886.2_Silent_p.T542T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	542					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATTTTGAAGGTCACTCCAG	0.363																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(1624-1626)acC>acA		strawberry notch homolog 1 (Drosophila)							67.0	67.0	67.0					12																	123812039		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123812039G>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1626C>A	12.37:g.123812039G>T						SBNO1_ENST00000267176.4_Silent_p.T541T|SBNO1_ENST00000602750.1_Silent_p.T541T|SBNO1_ENST00000602398.1_Silent_p.T542T	p.T542T	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	12	1625	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		542					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.1626C>A	CCDS53844.1																																																																																				0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		16	38	1	0	0.000422831	1	0.000460248	16	38				
TKT	7086	broad.mit.edu	37	3	53274267	53274267	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53274267C>A	ENST00000462138.1	-	4	525	c.437G>T	c.(436-438)aGc>aTc	p.S146I	TKT_ENST00000423525.2_Splice_Site_p.S146I|TKT_ENST00000296289.6_Splice_Site_p.S99I|TKT_ENST00000423516.1_Splice_Site_p.S146I			P29401	TKT_HUMAN	transketolase	146					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GGTGTGTTACCTGGCCTTGTC	0.612																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.e4+1		transketolase	Thiamine(DB00152)						92.0	85.0	87.0					3																	53274267		2203	4300	6503	SO:0001630	splice_region_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53274267C>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.437+1G>T	3.37:g.53274267C>A						TKT_ENST00000423525.2_Splice_Site_p.S146_splice|TKT_ENST00000296289.6_Splice_Site_p.S99_splice|TKT_ENST00000423516.1_Splice_Site_p.S146_splice	p.S146_splice			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	4	525	-		Prostate(884;0.0959)	146					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Splice_Site	SNP	ENST00000462138.1	37	c.437_splice	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211356	0.79240	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289	T;T;T;T	0.28895	1.88;1.88;1.59;1.88	5.69	5.69	0.88448	Transketolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.89904	3.07	0.80722	D	1	P;D;D	0.89917	0.909;1.0;1.0	P;D;D	0.85130	0.779;0.997;0.995	T	0.71155	-0.4675	9	.	.	.	.	19.8182	0.96579	0.0:1.0:0.0:0.0	.	146;63;146	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	I	146;146;146;99	ENSP00000417773:S146I;ENSP00000405455:S146I;ENSP00000391481:S146I;ENSP00000296289:S99I	.	S	-	2	0	TKT	53249307	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	7.818000	0.86416	2.700000	0.92200	0.561000	0.74099	AGC		0.612	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1		Missense_Mutation	20	37	1	0	0.000958276	1	0.00103117	20	37				
HECTD2	143279	broad.mit.edu	37	10	93260258	93260258	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260258G>T	ENST00000298068.5	+	19	2044		c.e19-1		HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000446394.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTATTGGCAGCTGCTTCGTC	0.363																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.e20-1		HECT domain containing E3 ubiquitin protein ligase 2							74.0	72.0	73.0					10																	93260258		2203	4300	6503	SO:0001630	splice_region_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93260258G>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1951-1G>T	10.37:g.93260258G>T						HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site				Q5U5R9	HECD2_HUMAN			20	2062	+								Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	SNP	ENST00000298068.5	37		CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647690	0.87958	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9215	0.97087	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECTD2	93250238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.320000	0.96346	2.785000	0.95823	0.655000	0.94253	.		0.363	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		Intron	4	40	1	0	0.00909568	1	0.00947522	4	40				
SUSD1	64420	broad.mit.edu	37	9	114874116	114874116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114874116G>A	ENST00000374270.3	-	8	1161	c.989C>T	c.(988-990)tCc>tTc	p.S330F	SUSD1_ENST00000374263.3_Missense_Mutation_p.S330F|SUSD1_ENST00000374264.2_Missense_Mutation_p.S330F	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	330						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTTTATGGATATCTTTGA	0.468																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(988-990)tCc>tTc		sushi domain containing 1							141.0	128.0	132.0					9																	114874116		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114874116G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.989C>T	9.37:g.114874116G>A	ENSP00000363388:p.Ser330Phe					SUSD1_ENST00000374264.2_Missense_Mutation_p.S330F|SUSD1_ENST00000374263.3_Missense_Mutation_p.S330F	p.S330F	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			8	1161	-			330					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.989C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.195|5.195	0.221567|0.221567	0.09863|0.09863	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.74632	.|-0.78;-0.81;-0.86	5.61|5.61	0.47|0.47	0.16747|0.16747	.|.	.|1.912250	.|0.02590	.|N	.|0.099895	T|T	0.62454|0.62454	0.2429|0.2429	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.39282	.|0.666;0.539;0.384	.|B;B;B	.|0.29077	.|0.069;0.098;0.031	T|T	0.54309|0.54309	-0.8313|-0.8313	5|10	.|0.51188	.|T	.|0.08	-0.0143|-0.0143	8.0308|8.0308	0.30463|0.30463	0.0:0.0801:0.4785:0.4414|0.0:0.0801:0.4785:0.4414	.|.	.|330;330;330	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|F	144|330	.|ENSP00000363388:S330F;ENSP00000363381:S330F;ENSP00000363382:S330F	.|ENSP00000363381:S330F	P|S	-|-	1|2	0|0	SUSD1|SUSD1	113913937|113913937	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.335000|0.335000	0.28730|0.28730	0.767000|0.767000	0.26575|0.26575	-0.090000|-0.090000	0.12462|0.12462	-1.014000|-1.014000	0.02459|0.02459	CCA|TCC		0.468	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		7	36	0	0	0	1	0	7	36				
MTIF3	219402	broad.mit.edu	37	13	28009965	28009965	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28009965T>C	ENST00000381116.1	-	7	918	c.684A>G	c.(682-684)caA>caG	p.Q228Q	MTIF3_ENST00000405591.2_Silent_p.Q228Q|MTIF3_ENST00000381120.3_Silent_p.Q228Q|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000431572.2_Silent_p.Q228Q			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	228					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTTGAACAGCTTGTGGCCTAG	0.383																																						ENST00000381116.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(682-684)caA>caG		mitochondrial translational initiation factor 3							109.0	107.0	108.0					13																	28009965		2203	4300	6503	SO:0001819	synonymous_variant	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28009965T>C	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.684A>G	13.37:g.28009965T>C						MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Silent_p.Q228Q|MTIF3_ENST00000405591.2_Silent_p.Q228Q|MTIF3_ENST00000431572.2_Silent_p.Q228Q	p.Q228Q			Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	7	918	-		Lung SC(185;0.0161)	228					Q05BL8|Q5W0V0|Q86X68	Silent	SNP	ENST00000381116.1	37	c.684A>G	CCDS9322.1																																																																																				0.383	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		13	100	0	0	0	1	0	13	100				
PCNT	5116	broad.mit.edu	37	21	47851604	47851604	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851604G>A	ENST00000359568.5	+	38	8333	c.8226G>A	c.(8224-8226)gaG>gaA	p.E2742E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2742					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTCTCTGAGCTCCAGAAGG	0.642																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8224-8226)gaG>gaA		pericentrin							29.0	28.0	28.0					21																	47851604		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851604G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8226G>A	21.37:g.47851604G>A						PCNT_ENST00000480896.1_3'UTR	p.E2742E	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8333	+	Breast(49;0.112)		2742					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8226G>A	CCDS33592.1																																																																																				0.642	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	19	0	0	0	1	0	5	19				
ZNHIT2	741	broad.mit.edu	37	11	64884244	64884244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64884244C>T	ENST00000310597.4	-	1	926	c.882G>A	c.(880-882)ctG>ctA	p.L294L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	294							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTCGCCCAGCAGGATGCGGG	0.706																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(880-882)ctG>ctA		zinc finger, HIT-type containing 2							26.0	28.0	27.0					11																	64884244		2200	4296	6496	SO:0001819	synonymous_variant	741						metal ion binding	g.chr11:64884244C>T		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.882G>A	11.37:g.64884244C>T							p.L294L	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	926	-			294					Q3SY14|Q8IUV0	Silent	SNP	ENST00000310597.4	37	c.882G>A	CCDS8094.1																																																																																				0.706	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		5	45	0	0	0	1	0	5	45				
HELZ2	85441	broad.mit.edu	37	20	62193506	62193506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62193506G>A	ENST00000467148.1	-	10	6517	c.6448C>T	c.(6448-6450)Cgc>Tgc	p.R2150C	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1581C	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2150	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGCTTGTGGCGGCCTCCGGGG	0.672																																						ENST00000467148.1																			0											c.(6448-6450)Cgc>Tgc		helicase with zinc finger 2, transcriptional coactivator							13.0	15.0	14.0					20																	62193506		2143	4209	6352	SO:0001583	missense	85441							g.chr20:62193506G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6448C>T	20.37:g.62193506G>A	ENSP00000417401:p.Arg2150Cys					HELZ2_ENST00000427522.2_Missense_Mutation_p.R1581C	p.R2150C	NM_001037335.2	NP_001032412.2					10	6517	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.6448C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	1.660	-0.511660	0.04200	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82081	-1.57;-1.57	3.91	-0.0511	0.13827	.	1.522000	0.03909	N	0.281571	T	0.70509	0.3232	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.0	T	0.54443	-0.8293	10	0.38643	T	0.18	-6.0029	3.6246	0.08108	0.164:0.1047:0.5281:0.2032	.	2150;1581	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	C	1581;2150	ENSP00000393257:R1581C;ENSP00000417401:R2150C	ENSP00000393257:R1581C	R	-	1	0	RP4-697K14.7	61663950	0.000000	0.05858	0.201000	0.23476	0.062000	0.15995	-0.446000	0.06837	0.150000	0.19136	-0.671000	0.03813	CGC		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	8	0	0	0	1	0	7	8				
CACUL1	143384	broad.mit.edu	37	10	120450775	120450775	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120450775G>A	ENST00000369151.3	-	7	1509		c.e7+1		CACUL1_ENST00000544392.1_Splice_Site	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1						G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										AAAACAACTTGCCTTGTAAAA	0.408																																						ENST00000369151.3																			0											c.e7+1		CDK2-associated, cullin domain 1							125.0	127.0	126.0					10																	120450775		1825	4090	5915	SO:0001630	splice_region_variant	143384							g.chr10:120450775G>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.1025+1C>T	10.37:g.120450775G>A						CACUL1_ENST00000544392.1_Splice_Site		NM_153810.4	NP_722517.3					7	1509	-								Q5XPL7|Q8IY11|Q8N7S4	Splice_Site	SNP	ENST00000369151.3	37		CCDS41570.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393468	0.62066	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151	.	.	.	5.98	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9949	0.09553	0.3124:0.0:0.6876:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf46	120440765	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.481000	0.73608	2.838000	0.97847	0.591000	0.81541	.		0.408	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810	Intron	61	112	0	0	0	1	0	61	112				
SGPP1	81537	broad.mit.edu	37	14	64152887	64152887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64152887C>A	ENST00000247225.6	-	3	1356	c.1262G>T	c.(1261-1263)gGa>gTa	p.G421V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	421					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACCAACCATTCCATAGGTAAT	0.343																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(1261-1263)gGa>gTa		sphingosine-1-phosphate phosphatase 1							101.0	84.0	90.0					14																	64152887		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64152887C>A	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1262G>T	14.37:g.64152887C>A	ENSP00000247225:p.Gly421Val						p.G421V	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1356	-			421					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1262G>T	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834453	0.71373	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.057955	0.64402	D	0.000001	D	0.82273	0.5001	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.77832	-0.2441	9	0.31617	T	0.26	-18.8964	20.6593	0.99626	0.0:1.0:0.0:0.0	.	421	Q9BX95	SGPP1_HUMAN	V	421	.	ENSP00000247225:G421V	G	-	2	0	SGPP1	63222640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	GGA		0.343	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		19	34	1	0	2.94398e-08	1	3.51695e-08	19	34				
ZBTB11	27107	broad.mit.edu	37	3	101383909	101383909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383909G>A	ENST00000312938.4	-	4	2102	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGTTGTCGAAGCCTGCTT	0.428																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1522-1524)Cga>Tga		zinc finger and BTB domain containing 11							200.0	185.0	190.0					3																	101383909		2203	4300	6503	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383909G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1522C>T	3.37:g.101383909G>A	ENSP00000326200:p.Arg508*						p.R508*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	2102	-			508					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.1522C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	43	10.176116	0.99353	.	.	ENSG00000066422	ENST00000312938	.	.	.	6.03	4.16	0.48862	.	0.052338	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-13.383	15.1478	0.72671	0.0:0.0:0.7353:0.2647	.	.	.	.	X	508	.	ENSP00000326200:R508X	R	-	1	2	ZBTB11	102866599	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.243000	0.58721	0.798000	0.33994	0.655000	0.94253	CGA		0.428	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		64	124	0	0	0	1	0	64	124				
FANCB	2187	broad.mit.edu	37	X	14863291	14863291	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14863291T>G	ENST00000324138.3	-	7	1767	c.1614A>C	c.(1612-1614)ccA>ccC	p.P538P	FANCB_ENST00000398334.1_Silent_p.P538P	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	538					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCATCAAGTATGGTGCTGGGA	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1612-1614)ccA>ccC	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							98.0	92.0	94.0					X																	14863291		2203	4300	6503	SO:0001819	synonymous_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14863291T>G	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1614A>C	X.37:g.14863291T>G						FANCB_ENST00000324138.3_Silent_p.P538P	p.P538P	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			8	1881	-	Hepatocellular(33;0.183)		538					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.1614A>C	CCDS14161.1																																																																																				0.408	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		58	103	0	0	0	1	0	58	103				
FGA	2243	broad.mit.edu	37	4	155506809	155506809	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155506809C>A	ENST00000302053.3	-	5	1850	c.1772G>T	c.(1771-1773)aGa>aTa	p.R591I	FGA_ENST00000403106.3_Missense_Mutation_p.R591I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	591					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGAGTCTCCTCTGTTGTAACT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1771-1773)aGa>aTa		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						135.0	130.0	131.0					4																	155506809		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506809C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1772G>T	4.37:g.155506809C>A	ENSP00000306361:p.Arg591Ile					FGA_ENST00000403106.3_Missense_Mutation_p.R591I	p.R591I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1850	-	all_hematologic(180;0.215)	Renal(120;0.0458)	591					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1772G>T	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.93|17.93	3.507979|3.507979	0.64410|0.64410	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.59364	.|0.27;2.66	6.03|6.03	-5.62|-5.62	0.02481|0.02481	.|.	.|4.629720	.|0.00166	.|N	.|0.000015	.|T	.|0.55401	.|0.1918	L|L	0.61218|0.61218	1.895|1.895	0.19575|0.19575	N|N	0.999969|0.999969	.|P;P	.|0.45474	.|0.859;0.779	.|B;B	.|0.43155	.|0.41;0.233	.|T	.|0.61312	.|-0.7088	.|10	0.37606|0.72032	T|D	0.19|0.01	.|.	7.9885|7.9885	0.30226|0.30226	0.0:0.266:0.1906:0.5434|0.0:0.266:0.1906:0.5434	.|.	.|591;591	.|P02671-2;P02671	.|.;FIBA_HUMAN	X|I	233|591	.|ENSP00000306361:R591I;ENSP00000385981:R591I	ENSP00000407891:E233X|ENSP00000306361:R591I	E|R	-|-	1|2	0|0	FGA|FGA	155726259|155726259	0.210000|0.210000	0.23517|0.23517	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.182000|-0.182000	0.09726|0.09726	-1.187000|-1.187000	0.02709|0.02709	-0.982000|-0.982000	0.02568|0.02568	GAG|AGA		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		44	65	1	0	3.4345e-17	1	4.4498e-17	44	65				
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240370352C>A	ENST00000319653.9	+	5	2470	c.2240C>A	c.(2239-2241)tCc>tAc	p.S747Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2239-2241)tCc>tAc		formin 2							47.0	47.0	47.0					1																	240370352		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370352C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2240C>A	1.37:g.240370352C>A	ENSP00000318884:p.Ser747Tyr						p.S747Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2470	+	Ovarian(103;0.127)	all_cancers(173;0.013)	747					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2240C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358166	0.24598	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.52295	0.67	5.59	4.68	0.58851	.	0.000000	0.64402	D	0.000011	T	0.61986	0.2391	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.62491	0.903	T	0.66192	-0.5985	10	0.87932	D	0	.	14.3165	0.66454	0.0:0.9286:0.0:0.0714	.	747	Q9NZ56	FMN2_HUMAN	Y	184;747	ENSP00000318884:S747Y	ENSP00000318884:S747Y	S	+	2	0	FMN2	238436975	1.000000	0.71417	0.975000	0.42487	0.088000	0.18126	6.848000	0.75409	1.368000	0.46115	0.655000	0.94253	TCC		0.572	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	21	1	0	0.00116845	1	0.00124821	6	21				
NCKAP5L	57701	broad.mit.edu	37	12	50189040	50189040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50189040G>A	ENST00000335999.6	-	8	2804	c.2603C>T	c.(2602-2604)aCt>aTt	p.T868I		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	864	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACTTGGGTCAGTGGGGCCAGG	0.642																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2602-2604)aCt>aTt		NCK-associated protein 5-like							71.0	76.0	74.0					12																	50189040		1939	4136	6075	SO:0001583	missense	57701							g.chr12:50189040G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2603C>T	12.37:g.50189040G>A	ENSP00000337998:p.Thr868Ile						p.T868I	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	2804	-			864			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.2603C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.977920	0.02197	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.47177	0.85	5.03	0.333	0.15943	.	0.926707	0.08961	N	0.868735	T	0.25158	0.0611	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.19844	-1.0293	10	0.37606	T	0.19	4.2053	6.6711	0.23068	0.1836:0.4242:0.3922:0.0	.	842;864;864	E2QRB5;Q9HCH0;Q9HCH0-2	.;NCK5L_HUMAN;.	I	868;842	ENSP00000337998:T868I	ENSP00000337998:T868I	T	-	2	0	NCKAP5L	48475307	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	0.274000	0.18680	0.212000	0.20703	0.561000	0.74099	ACT		0.642	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		20	112	0	0	0	1	0	20	112				
LRIG3	121227	broad.mit.edu	37	12	59307811	59307811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59307811G>A	ENST00000320743.3	-	3	621	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRIG3_ENST00000379141.4_Missense_Mutation_p.T52I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	112					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTTGGAATGGTCTCCAATTC	0.363			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(334-336)aCc>aTc		leucine-rich repeats and immunoglobulin-like domains 3							114.0	112.0	113.0					12																	59307811		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59307811G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.335C>T	12.37:g.59307811G>A	ENSP00000326759:p.Thr112Ile					LRIG3_ENST00000379141.4_Missense_Mutation_p.T52I	p.T112I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		3	621	-			112					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.335C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181262	0.21787	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.52526	1.88;1.53;0.66	5.64	4.73	0.59995	.	0.205200	0.24426	N	0.038626	T	0.33440	0.0863	L	0.41236	1.265	0.27316	N	0.957166	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.17137	-1.0379	9	.	.	.	.	4.9851	0.14185	0.1813:0.1913:0.6275:0.0	.	52;112	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	I	52;112;19	ENSP00000368436:T52I;ENSP00000326759:T112I;ENSP00000449109:T19I	.	T	-	2	0	LRIG3	57594078	0.999000	0.42202	1.000000	0.80357	0.399000	0.30720	1.837000	0.39201	1.344000	0.45657	0.655000	0.94253	ACC		0.363	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		29	34	0	0	0	1	0	29	34				
EFHB	151651	broad.mit.edu	37	3	19974983	19974983	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19974983G>T	ENST00000295824.9	-	1	689	c.528C>A	c.(526-528)acC>acA	p.T176T	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	176							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTAAAACACAGGTAGACTCTT	0.483																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(526-528)acC>acA		EF-hand domain family, member B							109.0	111.0	110.0					3																	19974983		2203	4300	6503	SO:0001819	synonymous_variant	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19974983G>T	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.528C>A	3.37:g.19974983G>T						EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	p.T176T	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			1	689	-			176					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	c.528C>A	CCDS33715.2																																																																																				0.483	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		5	106	1	0	3.59834e-05	1	4.01776e-05	5	106				
PIH1D1	55011	broad.mit.edu	37	19	49951093	49951093	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49951093G>A	ENST00000262265.5	-	5	707	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Silent_p.L158L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	158					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCGGATTCAGCTGCAAGTTG	0.612																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(472-474)Ctg>Ttg		PIH1 domain containing 1							112.0	120.0	117.0					19																	49951093		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49951093G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.472C>T	19.37:g.49951093G>A						PIH1D1_ENST00000596049.1_Silent_p.L158L	p.L158L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	5	707	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	158					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.472C>T	CCDS12765.1																																																																																				0.612	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		38	78	0	0	0	1	0	38	78				
TRRAP	8295	broad.mit.edu	37	7	98564774	98564774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98564774C>T	ENST00000359863.4	+	49	7475	c.7266C>T	c.(7264-7266)aaC>aaT	p.N2422N	TRRAP_ENST00000446306.3_Silent_p.N2404N|TRRAP_ENST00000355540.3_Silent_p.N2404N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2422					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTTGTTAACTATGTCTACA	0.393																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7264-7266)aaC>aaT		transformation/transcription domain-associated protein							104.0	111.0	108.0					7																	98564774		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98564774C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7266C>T	7.37:g.98564774C>T						TRRAP_ENST00000355540.3_Silent_p.N2404N|TRRAP_ENST00000446306.3_Silent_p.N2404N	p.N2422N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		49	7475	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2422					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.7266C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.036	0.988461	0.18966	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.17	1.4	0.22301	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49303	-0.8954	4	.	.	.	.	9.4514	0.38727	0.0:0.6106:0.0:0.3894	.	.	.	.	I	2144	.	.	T	+	2	0	TRRAP	98402710	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.066000	0.30604	-0.014000	0.14175	0.655000	0.94253	ACT		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		14	110	0	0	0	1	0	14	110				
KIAA0922	23240	broad.mit.edu	37	4	154541987	154541987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154541987G>A	ENST00000409663.3	+	27	3696	c.3644G>A	c.(3643-3645)cGa>cAa	p.R1215Q	KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1216Q|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1132Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1215						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGTAAAAGTCGAACATGTAGA	0.308																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3646-3648)cGa>cAa		KIAA0922							85.0	102.0	96.0					4																	154541987		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154541987G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3644G>A	4.37:g.154541987G>A	ENSP00000386574:p.Arg1215Gln					KIAA0922_ENST00000409663.3_Missense_Mutation_p.R1215Q|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1132Q	p.R1216Q	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			27	3696	+	all_hematologic(180;0.093)	Renal(120;0.118)	1215					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3647G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442380	0.63067	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.32515	1.79;1.45;1.78;1.47	5.63	5.63	0.86233	.	0.277537	0.39834	N	0.001247	T	0.54902	0.1887	L	0.58101	1.795	0.46678	D	0.999151	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.52124	-0.8617	10	0.54805	T	0.06	-8.8518	19.6809	0.95962	0.0:0.0:1.0:0.0	.	1132;1216;1215	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Q	1215;1132;1216;993	ENSP00000386574:R1215Q;ENSP00000409663:R1132Q;ENSP00000386787:R1216Q;ENSP00000240487:R993Q	ENSP00000240487:R993Q	R	+	2	0	KIAA0922	154761437	1.000000	0.71417	0.799000	0.32177	0.562000	0.35680	6.182000	0.71995	2.644000	0.89710	0.655000	0.94253	CGA		0.308	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		36	59	0	0	0	1	0	36	59				
INSRR	3645	broad.mit.edu	37	1	156819161	156819161	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156819161A>G	ENST00000368195.3	-	6	1717	c.1321T>C	c.(1321-1323)Tac>Cac	p.Y441H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	441					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGGCGAAGTAGATCTTGCCC	0.607																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1321-1323)Tac>Cac		insulin receptor-related receptor							121.0	120.0	120.0					1																	156819161		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819161A>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1321T>C	1.37:g.156819161A>G	ENSP00000357178:p.Tyr441His					NTRK1_ENST00000392302.2_Intron	p.Y441H	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			6	1717	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		441					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1321T>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753545	0.89753	.	.	ENSG00000027644	ENST00000368195	T	0.80393	-1.37	4.77	4.77	0.60923	EGF receptor, L domain (1);	0.000000	0.41500	D	0.000879	D	0.87144	0.6104	.	.	.	0.43065	D	0.994696	D	0.89917	1.0	D	0.80764	0.994	D	0.89146	0.3520	9	0.72032	D	0.01	.	13.2525	0.60060	1.0:0.0:0.0:0.0	.	441	P14616	INSRR_HUMAN	H	441	ENSP00000357178:Y441H	ENSP00000357178:Y441H	Y	-	1	0	INSRR	155085785	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.111000	0.71541	2.019000	0.59389	0.459000	0.35465	TAC		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		10	123	0	0	0	1	0	10	123				
BUB1	699	broad.mit.edu	37	2	111408165	111408165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111408165C>A	ENST00000302759.6	-	18	2279	c.2161G>T	c.(2161-2163)Gaa>Taa	p.E721*	BUB1_ENST00000535254.1_Nonsense_Mutation_p.E701*|BUB1_ENST00000409311.1_Nonsense_Mutation_p.E721*	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	721					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCATCCATTCTGCTTGGAGC	0.512																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2101-2103)Gaa>Taa		BUB1 mitotic checkpoint serine/threonine kinase							115.0	75.0	88.0					2																	111408165		2203	4300	6503	SO:0001587	stop_gained	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111408165C>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2161G>T	2.37:g.111408165C>A	ENSP00000302530:p.Glu721*					BUB1_ENST00000302759.6_Nonsense_Mutation_p.E721*|BUB1_ENST00000409311.1_Nonsense_Mutation_p.E721*	p.E701*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	17	2168	-		Ovarian(717;0.0822)	721					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Nonsense_Mutation	SNP	ENST00000302759.6	37	c.2101G>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	39	7.439578	0.98286	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	.	.	.	5.21	3.24	0.37175	.	0.747880	0.13289	N	0.399138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.4158	5.0191	0.14352	0.21:0.6824:0.0:0.1076	.	.	.	.	X	701;721;721;721	.	ENSP00000302530:E721X	E	-	1	0	BUB1	111124637	0.034000	0.19679	0.011000	0.14972	0.557000	0.35523	1.154000	0.31688	1.410000	0.46936	0.650000	0.86243	GAA		0.512	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		8	29	1	0	0.0381472	1	0.0390147	8	29				
SYNE1	23345	broad.mit.edu	37	6	152646334	152646334	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152646334A>G	ENST00000367255.5	-	81	16143	c.15542T>C	c.(15541-15543)cTg>cCg	p.L5181P	SYNE1_ENST00000265368.4_Missense_Mutation_p.L5181P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4874P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5110P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5110P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5181					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGACCTGCTCAGGGTGGCTTT	0.527										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15541-15543)cTg>cCg		spectrin repeat containing, nuclear envelope 1							209.0	187.0	194.0					6																	152646334		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152646334A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15542T>C	6.37:g.152646334A>G	ENSP00000356224:p.Leu5181Pro	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.L4874P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5181P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5110P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5110P	p.L5181P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	81	16143	-		Ovarian(120;0.0955)	5181					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15542T>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094509	0.36952	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.39592	1.11;1.11;1.11;1.11;1.07	5.78	5.78	0.91487	.	0.473082	0.18647	N	0.135125	T	0.33760	0.0874	L	0.39898	1.24	0.80722	D	1	B;B;B;P	0.44006	0.314;0.108;0.108;0.824	B;B;B;P	0.47376	0.246;0.049;0.049;0.545	T	0.11227	-1.0596	10	0.48119	T	0.1	.	16.161	0.81712	1.0:0.0:0.0:0.0	.	5181;5181;5181;5110	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	P	5181;5110;5181;5110;4874	ENSP00000356224:L5181P;ENSP00000396024:L5110P;ENSP00000265368:L5181P;ENSP00000390975:L5110P;ENSP00000341887:L4874P	ENSP00000265368:L5181P	L	-	2	0	SYNE1	152688027	1.000000	0.71417	0.031000	0.17742	0.816000	0.46133	7.111000	0.77077	2.213000	0.71641	0.477000	0.44152	CTG		0.527	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	185	0	0	0	1	0	14	185				
LRP1	4035	broad.mit.edu	37	12	57595294	57595294	+	Missense_Mutation	SNP	G	G	A	rs149436792		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57595294G>A	ENST00000243077.3	+	66	10826	c.10360G>A	c.(10360-10362)Gcc>Acc	p.A3454T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3454	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.A3454T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGACCTGCGCCCCCAACCA	0.607																																						ENST00000243077.3																			1	Substitution - Missense(1)	p.A3454T(1)	lung(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10360-10362)Gcc>Acc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	G	THR/ALA	0,4406		0,0,2203	78.0	70.0	73.0		10360	4.9	1.0	12	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3454/4545	57595294	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57595294G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10360G>A	12.37:g.57595294G>A	ENSP00000243077:p.Ala3454Thr						p.A3454T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	66	10826	+			3454			LDL-receptor class A 24.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10360G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862190	0.71949	0.0	1.16E-4	ENSG00000123384	ENST00000243077;ENST00000555124	D;D	0.95554	-3.74;-3.74	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000002	D	0.93703	0.7988	N	0.04994	-0.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91264	0.5039	10	0.14252	T	0.57	.	17.5211	0.87787	0.0:0.0:1.0:0.0	.	3454	Q07954	LRP1_HUMAN	T	3454;21	ENSP00000243077:A3454T;ENSP00000451012:A21T	ENSP00000243077:A3454T	A	+	1	0	LRP1	55881561	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.534000	0.67167	2.742000	0.94016	0.603000	0.83216	GCC		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		18	17	0	0	0	1	0	18	17				
AMER1	139285	broad.mit.edu	37	X	63410256	63410256	+	Missense_Mutation	SNP	C	C	T	rs371014578		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410256C>T	ENST00000330258.3	-	2	3183	c.2911G>A	c.(2911-2913)Ggt>Agt	p.G971S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	971	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CAGGCAGGACCTGGCCCCACT	0.567																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2911-2913)Ggt>Agt		APC membrane recruitment protein 1		C	SER/GLY	1,3321		0,1,1375,570	30.0	30.0	30.0		2911	3.0	0.2	X		30	0,6458		0,0,2333,1792	no	missense	FAM123B	NM_152424.3	56	0,1,3708,2362	TT,TC,CC,C		0.0,0.0301,0.0102	benign	971/1136	63410256	1,9779	1946	4125	6071	SO:0001583	missense	139285							g.chrX:63410256C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2911G>A	X.37:g.63410256C>T	ENSP00000329117:p.Gly971Ser					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.G971S	NM_152424.3	NP_689637.3					2	3183	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2911G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	0.923	-0.715157	0.03206	3.01E-4	0.0	ENSG00000184675	ENST00000330258	T	0.44083	0.93	4.79	2.98	0.34508	.	.	.	.	.	T	0.24586	0.0596	N	0.24115	0.695	0.18873	N	0.999989	B	0.27823	0.19	B	0.27608	0.081	T	0.19712	-1.0297	8	.	.	.	-0.2246	3.9242	0.09256	0.1907:0.6085:0.0:0.2008	.	971	Q5JTC6	F123B_HUMAN	S	971	ENSP00000329117:G971S	.	G	-	1	0	FAM123B	63326981	0.000000	0.05858	0.154000	0.22540	0.066000	0.16364	-0.012000	0.12699	0.550000	0.28991	-0.257000	0.10917	GGT		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		6	12	0	0	0	1	0	6	12				
PTPRF	5792	broad.mit.edu	37	1	44056724	44056724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44056724C>T	ENST00000359947.4	+	9	1371	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Missense_Mutation_p.S344L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S344L|PTPRF_ENST00000438120.1_Missense_Mutation_p.S344L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTGGGAACTCGGAGCCTGTA	0.592																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1030-1032)tCg>tTg		protein tyrosine phosphatase, receptor type, F							91.0	98.0	95.0					1																	44056724		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056724C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1031C>T	1.37:g.44056724C>T	ENSP00000353030:p.Ser344Leu					PTPRF_ENST00000438120.1_Missense_Mutation_p.S344L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S344L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S344L	p.S344L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			9	1371	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	344			Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1031C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.38|14.38	2.518178|2.518178	0.44763|0.44763	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.309888	.|0.17922	.|N	.|0.157445	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|B;P	.|0.38565	.|0.072;0.637	.|B;B	.|0.35114	.|0.039;0.196	T|T	0.30297|0.30297	-0.9983|-0.9983	5|10	.|0.20519	.|T	.|0.43	.|.	19.4369|19.4369	0.94799|0.94799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|344;344	.|P10586-2;P10586	.|.;PTPRF_HUMAN	W|L	1|344	.|ENSP00000353030:S344L;ENSP00000398822:S344L;ENSP00000361491:S344L;ENSP00000361490:S344L	.|ENSP00000353030:S344L	R|S	+|+	1|2	2|0	PTPRF|PTPRF	43829311|43829311	0.923000|0.923000	0.31300|0.31300	0.871000|0.871000	0.34182|0.34182	0.638000|0.638000	0.38207|0.38207	4.978000|4.978000	0.63799|0.63799	2.689000|2.689000	0.91719|0.91719	0.462000|0.462000	0.41574|0.41574	CGG|TCG		0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			12	148	0	0	0	1	0	12	148				
FBXO28	23219	broad.mit.edu	37	1	224340896	224340896	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224340896C>A	ENST00000366862.5	+	4	612	c.569C>A	c.(568-570)cCt>cAt	p.P190H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	190										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ACCAGAGCCCCTCAACGAGCT	0.318																																						ENST00000366862.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10						c.(568-570)cCt>cAt		F-box protein 28							108.0	120.0	116.0					1																	224340896		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224340896C>A	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.569C>A	1.37:g.224340896C>A	ENSP00000355827:p.Pro190His					FBXO28_ENST00000424254.2_Intron	p.P190H	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	4	612	+	Breast(184;0.206)		190					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.569C>A	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301358	0.95601	.	.	ENSG00000143756	ENST00000366862	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79210	-0.1897	9	0.72032	D	0.01	-14.3066	19.6279	0.95687	0.0:1.0:0.0:0.0	.	190	Q9NVF7	FBX28_HUMAN	H	190	.	ENSP00000355827:P190H	P	+	2	0	FBXO28	222407519	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.219000	0.78000	2.880000	0.98712	0.650000	0.86243	CCT		0.318	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		25	93	1	0	6.32553e-13	1	7.99037e-13	25	93				
BAZ2A	11176	broad.mit.edu	37	12	56995055	56995055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56995055C>T	ENST00000551812.1	-	21	4402	c.4209G>A	c.(4207-4209)caG>caA	p.Q1403Q	BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000379441.3_Silent_p.Q1373Q|BAZ2A_ENST00000179765.5_Silent_p.Q1371Q|BAZ2A_ENST00000549884.1_Silent_p.Q1401Q	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1403	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCGTTTGGGCTGTCCCAGCC	0.592																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(4111-4113)caG>caA		bromodomain adjacent to zinc finger domain, 2A							78.0	76.0	77.0					12																	56995055		1972	4152	6124	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56995055C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4209G>A	12.37:g.56995055C>T						BAZ2A_ENST00000549884.1_Silent_p.Q1401Q|BAZ2A_ENST00000379441.3_Silent_p.Q1373Q|BAZ2A_ENST00000551812.1_Silent_p.Q1403Q|BAZ2A_ENST00000553222.1_5'UTR	p.Q1371Q			Q9UIF9	BAZ2A_HUMAN			22	4312	-			1403			Pro-rich.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.4113G>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	5.704	0.314353	0.10789	.	.	ENSG00000076108	ENST00000547453	.	.	.	5.48	2.54	0.30619	.	.	.	.	.	T	0.58133	0.2101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50734	-0.8793	4	.	.	.	-25.3729	8.8753	0.35340	0.0:0.7391:0.0:0.2609	.	.	.	.	T	72	.	.	A	-	1	0	BAZ2A	55281322	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.561000	0.23515	0.319000	0.23209	0.655000	0.94253	GCC		0.592	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		16	22	0	0	0	1	0	16	22				
ZNF431	170959	broad.mit.edu	37	19	21366678	21366678	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366678C>A	ENST00000311048.7	+	5	1716	c.1572C>A	c.(1570-1572)tcC>tcA	p.S524S	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	524					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTAACCAATCCTCAACTCTTA	0.328																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1570-1572)tcC>tcA		zinc finger protein 431							66.0	73.0	71.0					19																	21366678		2203	4298	6501	SO:0001819	synonymous_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366678C>A	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1572C>A	19.37:g.21366678C>A						ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	p.S524S	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	1716	+			524					A8KAK7|Q8IWC4	Silent	SNP	ENST00000311048.7	37	c.1572C>A	CCDS32979.1																																																																																				0.328	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		20	36	1	0	1.64113e-05	1	1.85146e-05	20	36				
PCSK7	9159	broad.mit.edu	37	11	117094831	117094831	+	Silent	SNP	G	G	A	rs569662186		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117094831G>A	ENST00000320934.3	-	8	1647	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y	PCSK7_ENST00000540028.1_De_novo_Start_InFrame	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	339	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGTAGCCATCGTAGTTGCAGT	0.542			T	IGH@	MLCLS																																	ENST00000540028.1				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16								proprotein convertase subtilisin/kexin type 7							332.0	250.0	278.0					11																	117094831		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117094831G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1017C>T	11.37:g.117094831G>A						PCSK7_ENST00000320934.3_Silent_p.Y339Y				Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	0	53	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Translation_Start_Site	SNP	ENST00000320934.3	37		CCDS8382.1																																																																																				0.542	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		4	51	0	0	0	1	0	4	51				
SLC16A4	9122	broad.mit.edu	37	1	110919640	110919640	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110919640G>T	ENST00000369779.4	-	7	1423	c.1174C>A	c.(1174-1176)Ctt>Att	p.L392I	SLC16A4_ENST00000437429.2_Missense_Mutation_p.L282I|SLC16A4_ENST00000541986.1_Missense_Mutation_p.L330I|SLC16A4_ENST00000369781.4_Missense_Mutation_p.L224I|SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000472422.2_Missense_Mutation_p.L344I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	392					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TAGGTCATAAGTAGTGGAAAT	0.433																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(1174-1176)Ctt>Att		solute carrier family 16, member 4	Pyruvic acid(DB00119)						247.0	216.0	227.0					1																	110919640		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110919640G>T	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1174C>A	1.37:g.110919640G>T	ENSP00000358794:p.Leu392Ile					SLC16A4_ENST00000541986.1_Missense_Mutation_p.L330I|SLC16A4_ENST00000369781.4_Missense_Mutation_p.L224I|SLC16A4_ENST00000472422.2_Missense_Mutation_p.L344I|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L282I	p.L392I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	7	1423	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	392					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.1174C>A	CCDS823.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104694	0.77096	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781;ENST00000437429;ENST00000541986;ENST00000467986	D;D;T;D;D;D	0.82081	-1.57;-1.57;-0.18;-1.57;-1.57;-1.57	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.88105	2.93	0.53005	D	0.999969	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.995;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.996;0.977;0.954;0.998;1.0	D	0.92325	0.5869	10	0.72032	D	0.01	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	282;330;344;392;224;392	E7EPY8;B4DJ67;G3V175;Q53FH9;Q8WU09;O15374	.;.;.;.;.;MOT5_HUMAN	I	392;344;224;282;330;159	ENSP00000358794:L392I;ENSP00000432495:L344I;ENSP00000358796:L224I;ENSP00000394790:L282I;ENSP00000446087:L330I;ENSP00000435768:L159I	ENSP00000358794:L392I	L	-	1	0	SLC16A4	110721163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.368000	0.73104	2.937000	0.99478	0.650000	0.86243	CTT		0.433	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		18	41	1	0	1.78486e-19	1	2.33646e-19	18	41				
ETNPPL	64850	broad.mit.edu	37	4	109681035	109681035	+	Missense_Mutation	SNP	C	C	A	rs201271682		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109681035C>A	ENST00000296486.3	-	3	359	c.205G>T	c.(205-207)Gct>Tct	p.A69S	ETNPPL_ENST00000512646.1_Missense_Mutation_p.A11S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.A63S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.A29S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	69						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TTCAGGGCAGCTTTGACCACT	0.423																																						ENST00000296486.3																			0											c.(205-207)Gct>Tct		ethanolamine-phosphate phospho-lyase							89.0	79.0	83.0					4																	109681035		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109681035C>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.205G>T	4.37:g.109681035C>A	ENSP00000296486:p.Ala69Ser					ETNPPL_ENST00000510706.1_Missense_Mutation_p.A29S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.A11S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.A63S	p.A69S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					3	359	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.205G>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426477	0.43020	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706;ENST00000510723	T;T;T;T;D	0.89050	0.32;0.32;0.32;0.32;-2.46	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051490	0.85682	D	0.000000	D	0.95749	0.8617	H	0.95745	3.715	0.80722	D	1	P;P;D	0.55385	0.95;0.742;0.971	P;P;P	0.57283	0.817;0.499;0.8	D	0.96762	0.9562	9	.	.	.	-10.4042	19.4259	0.94741	0.0:1.0:0.0:0.0	.	11;63;69	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	S	69;63;11;29;11	ENSP00000296486:A69S;ENSP00000392269:A63S;ENSP00000427065:A11S;ENSP00000423240:A29S;ENSP00000426525:A11S	.	A	-	1	0	AGXT2L1	109900484	1.000000	0.71417	0.957000	0.39632	0.634000	0.38068	7.764000	0.85297	2.594000	0.87642	0.557000	0.71058	GCT		0.423	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		12	28	1	0	9.16793e-09	1	1.10245e-08	12	28				
CD34	947	broad.mit.edu	37	1	208063122	208063122	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208063122G>A	ENST00000310833.7	-	5	919				CD34_ENST00000367036.3_Nonsense_Mutation_p.Q21*|CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_Intron|CD34_ENST00000356522.4_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule						cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTGCTAACTGTATATGTGCA	0.348																																						ENST00000367036.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(61-63)Cag>Tag		CD34 molecule							22.0	23.0	22.0					1																	208063122		876	1991	2867	SO:0001627	intron_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208063122G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.598-156C>T	1.37:g.208063122G>A						CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_Intron|CD34_ENST00000310833.7_Intron|CD34_ENST00000356522.4_Intron	p.Q21*			P28906	CD34_HUMAN			1	715	-			0					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Nonsense_Mutation	SNP	ENST00000310833.7	37	c.61C>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	38	6.909645	0.97928	.	.	ENSG00000174059	ENST00000367036	.	.	.	3.45	-1.28	0.09318	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	2.9824	0.05957	0.3922:0.0:0.3891:0.2187	.	.	.	.	X	21	.	ENSP00000356003:Q21X	Q	-	1	0	CD34	206129745	0.001000	0.12720	0.001000	0.08648	0.109000	0.19521	-0.148000	0.10219	-0.244000	0.09639	0.650000	0.86243	CAG		0.348	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		5	9	0	0	0	1	0	5	9				
HUS1	3364	broad.mit.edu	37	7	48016412	48016412	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48016412C>T	ENST00000258774.5	-	4	403	c.380G>A	c.(379-381)cGc>cAc	p.R127H	HUS1_ENST00000432325.1_Missense_Mutation_p.R106H	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	127					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGTCACAATGCGGCTACTGCT	0.418								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(379-381)cGc>cAc	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							164.0	152.0	156.0					7																	48016412		2203	4300	6503	SO:0001583	missense	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48016412C>T	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.380G>A	7.37:g.48016412C>T	ENSP00000258774:p.Arg127His					HUS1_ENST00000432325.1_Missense_Mutation_p.R106H	p.R127H	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			4	403	-		Breast(660;0.00139)	127					B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	c.380G>A	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727938	0.89390	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44375	-0.9332	10	0.26408	T	0.33	-12.4081	15.5511	0.76152	0.0:1.0:0.0:0.0	.	127	O60921	HUS1_HUMAN	H	127;106;106;106	ENSP00000258774:R127H;ENSP00000416588:R106H;ENSP00000404855:R106H;ENSP00000398806:R106H	ENSP00000258774:R127H	R	-	2	0	HUS1	47982937	1.000000	0.71417	0.384000	0.26145	0.991000	0.79684	6.686000	0.74548	2.512000	0.84698	0.561000	0.74099	CGC		0.418	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		9	148	0	0	0	1	0	9	148				
LYST	1130	broad.mit.edu	37	1	235827839	235827839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235827839G>A	ENST00000389794.3	-	51	11295	c.11121C>T	c.(11119-11121)tcC>tcT	p.S3707S	LYST_ENST00000389793.2_Silent_p.S3707S|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3707					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAAAGCCACGGAACAGATGA	0.478																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(11119-11121)tcC>tcT		lysosomal trafficking regulator							100.0	89.0	93.0					1																	235827839		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235827839G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11121C>T	1.37:g.235827839G>A						LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3707S	p.S3707S			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		51	11295	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3707					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.11121C>T	CCDS31062.1																																																																																				0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			32	34	0	0	0	1	0	32	34				
PTPN9	5780	broad.mit.edu	37	15	75761231	75761231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75761231C>A	ENST00000306726.2	-	13	2173	c.1661G>T	c.(1660-1662)aGg>aTg	p.R554M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	554	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTGAAGGCCCTCTGGGTCCT	0.552																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1660-1662)aGg>aTg		protein tyrosine phosphatase, non-receptor type 9							103.0	87.0	92.0					15																	75761231		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75761231C>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1661G>T	15.37:g.75761231C>A	ENSP00000303554:p.Arg554Met						p.R554M	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			13	2173	-			554			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1661G>T	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522074	0.85600	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.53640	0.61	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86823	0.2006	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	554	P43378	PTN9_HUMAN	M	554;544	ENSP00000303554:R554M	ENSP00000303554:R554M	R	-	2	0	PTPN9	73548284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.202000	0.77856	2.941000	0.99782	0.655000	0.94253	AGG		0.552	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			7	42	1	0	8.12818e-05	1	8.99451e-05	7	42				
RPS4X	6191	broad.mit.edu	37	X	71494903	71494903	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71494903C>A	ENST00000316084.6	-	4	464	c.360G>T	c.(358-360)aaG>aaT	p.K120N	RPS4X_ENST00000373626.3_Splice_Site_p.K120N|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	120					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CCACACTCACCTTGGCCTCCT	0.478																																						ENST00000316084.6																			0				NS(1)|large_intestine(1)	2						c.e4+1		ribosomal protein S4, X-linked							82.0	66.0	72.0					X																	71494903		2203	4300	6503	SO:0001630	splice_region_variant	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71494903C>A		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.360+1G>T	X.37:g.71494903C>A						RPS4X_ENST00000373626.3_Splice_Site_p.K120_splice|RPS4X_ENST00000486733.1_5'UTR	p.K120_splice	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN			4	464	-	Renal(35;0.156)		120					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Splice_Site	SNP	ENST00000316084.6	37	c.360_splice	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156639	0.57259	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	D	0.88201	-2.35	4.74	3.87	0.44632	Ribosomal protein S4e, central (2);	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.70842	2.15	0.58432	D	0.999999	B;B	0.24258	0.1;0.02	B;B	0.28709	0.093;0.026	T	0.81317	-0.0987	9	.	.	.	.	9.7288	0.40348	0.0:0.8947:0.0:0.1053	.	120;120	B7Z1M6;P62701	.;RS4X_HUMAN	N	120	ENSP00000362744:K120N	.	K	-	3	2	RPS4X	71411628	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.888000	0.69758	0.897000	0.36392	0.600000	0.82982	AAG		0.478	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007	Missense_Mutation	9	14	1	0	2.17888e-05	1	2.45068e-05	9	14				
AVPR2	554	broad.mit.edu	37	X	153171513	153171513	+	Missense_Mutation	SNP	G	G	T	rs193922116|rs104894748		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171513G>T	ENST00000358927.2	+	3	762	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	AVPR2_ENST00000337474.5_Missense_Mutation_p.G185C|AVPR2_ENST00000370049.1_Missense_Mutation_p.G185C			P30518	V2R_HUMAN	arginine vasopressin receptor 2	185			G -> C (in XNDI). {ECO:0000269|PubMed:1303271}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAACGTGGAAGGTGGCAGCGG	0.642																																						ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	GRCh37	CM920119	AVPR2	M	rs104894748	c.(553-555)Ggt>Tgt		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						51.0	42.0	45.0					X																	153171513		2202	4300	6502	SO:0001583	missense	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171513G>T	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.553G>T	X.37:g.153171513G>T	ENSP00000351805:p.Gly185Cys					AVPR2_ENST00000370049.1_Missense_Mutation_p.G185C|AVPR2_ENST00000337474.5_Missense_Mutation_p.G185C	p.G185C			P30518	V2R_HUMAN			3	762	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		185		G -> C (in XNDI).			C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.553G>T	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	0.060	-1.227582	0.01518	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	3.71	0.777	0.18538	GPCR, rhodopsin-like superfamily (1);	0.387123	0.26883	N	0.022017	T	0.66819	0.2828	L	0.39898	1.24	0.09310	A	3.65307e-13	D;D	0.57571	0.98;0.965	P;P	0.55577	0.774;0.779	T	0.69135	-0.5225	9	0.54805	T	0.06	-3.4472	5.0863	0.14684	0.3122:0.1504:0.5374:0.0	.	185;185	P30518-2;P30518	.;V2R_HUMAN	C	185	ENSP00000351805:G185C;ENSP00000393513:G185C;ENSP00000338072:G185C;ENSP00000359066:G185C	ENSP00000338072:G185C	G	+	1	0	AVPR2	152824707	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.221000	0.17680	-0.080000	0.12685	-0.819000	0.03115	GGT		0.642	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			5	43	1	0	1.23904e-05	1	1.39987e-05	5	43				
GHR	2690	broad.mit.edu	37	5	42711316	42711316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42711316C>A	ENST00000230882.4	+	7	816	c.626C>A	c.(625-627)cCt>cAt	p.P209H	GHR_ENST00000537449.1_Missense_Mutation_p.P22H|GHR_ENST00000357703.3_Missense_Mutation_p.P187H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	209	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGATGGACCCTATATTGACA	0.378																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(625-627)cCt>cAt		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						140.0	136.0	137.0					5																	42711316		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42711316C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.626C>A	5.37:g.42711316C>A	ENSP00000230882:p.Pro209His					GHR_ENST00000357703.3_Missense_Mutation_p.P187H|GHR_ENST00000537449.1_Missense_Mutation_p.P22H	p.P209H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			7	816	+		Myeloproliferative disorder(839;0.00878)	209			Fibronectin type-III.		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.626C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511423	0.27036	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276;ENST00000537449	D;D;D	0.94138	-3.36;-3.36;-2.68	5.21	3.02	0.34903	Fibronectin, type III (4);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.526979	0.20693	N	0.087434	D	0.92506	0.7620	L	0.48362	1.52	0.09310	N	1	D	0.76494	0.999	D	0.64321	0.924	D	0.83429	0.0037	10	0.12766	T	0.61	-7.8405	6.4917	0.22119	0.1333:0.6562:0.13:0.0804	.	209	P10912	GHR_HUMAN	H	209;187;209;22	ENSP00000230882:P209H;ENSP00000350335:P187H;ENSP00000442206:P22H	ENSP00000230882:P209H	P	+	2	0	GHR	42747073	0.254000	0.23992	0.023000	0.16930	0.467000	0.32768	2.537000	0.45702	1.132000	0.42129	0.655000	0.94253	CCT		0.378	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		9	109	1	0	4.68919e-08	1	5.58064e-08	9	109				
ZNF438	220929	broad.mit.edu	37	10	31137485	31137485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31137485G>A	ENST00000361310.3	-	6	2178	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	ZNF438_ENST00000375311.1_Nonsense_Mutation_p.R181*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.R617*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.R607*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000538351.2_Nonsense_Mutation_p.R568*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.R607*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.R607*			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	617					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCATGCCTCGCACACTCATG	0.498																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1702-1704)Cga>Tga		zinc finger protein 438							139.0	124.0	129.0					10																	31137485		2203	4300	6503	SO:0001587	stop_gained	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137485G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1849C>T	10.37:g.31137485G>A	ENSP00000354663:p.Arg617*					ZNF438_ENST00000413025.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.R607*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.R617*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.R617*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.R181*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.R607*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.R607*	p.R568*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	2456	-		Prostate(175;0.0587)	617					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Nonsense_Mutation	SNP	ENST00000361310.3	37	c.1702C>T	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	43	10.108459	0.99338	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	.	.	.	5.07	3.02	0.34903	.	0.883157	0.09622	N	0.777509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-0.8512	5.3975	0.16276	0.1079:0.0:0.5912:0.3009	.	.	.	.	X	607;617;617;617;617;607;607;568;336;181	.	ENSP00000333571:R607X	R	-	1	2	ZNF438	31177491	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.233000	0.17911	1.126000	0.42016	0.467000	0.42956	CGA		0.498	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		10	27	0	0	0	1	0	10	27				
ZNF493	284443	broad.mit.edu	37	19	21607350	21607350	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21607350A>G	ENST00000355504.4	+	2	1771	c.1505A>G	c.(1504-1506)aAa>aGa	p.K502R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.K630R	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAACCCTACAAATGTGAAGAA	0.388																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1888-1890)aAa>aGa		zinc finger protein 493							36.0	41.0	39.0					19																	21607350		2197	4296	6493	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607350A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1505A>G	19.37:g.21607350A>G	ENSP00000347691:p.Lys502Arg					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.K502R	p.K630R	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1998	+			502					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1889A>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.84	1.760033	0.31137	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.03831	3.79;3.79	0.994	0.994	0.19832	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	L	0.28776	0.89	0.09310	N	0.999999	P;B	0.48589	0.912;0.013	B;B	0.43867	0.434;0.005	T	0.40979	-0.9534	9	0.48119	T	0.1	.	4.6463	0.12574	0.67:0.33:0.0:0.0	.	502;630	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	R	630;502	ENSP00000376110:K630R;ENSP00000347691:K502R	ENSP00000347691:K502R	K	+	2	0	ZNF493	21399190	0.000000	0.05858	0.175000	0.22980	0.170000	0.22686	-0.710000	0.05024	0.344000	0.23847	0.338000	0.21704	AAA		0.388	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		9	17	0	0	0	1	0	9	17				
HMG20A	10363	broad.mit.edu	37	15	77750753	77750753	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77750753G>A	ENST00000381714.3	+	3	432	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	HMG20A_ENST00000336216.4_Missense_Mutation_p.E2K	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	2					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGAGAGATGGAAAACTTGAT	0.403																																						ENST00000381714.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(4-6)Gaa>Aaa		high mobility group 20A							78.0	78.0	78.0					15																	77750753		2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77750753G>A	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.4G>A	15.37:g.77750753G>A	ENSP00000371133:p.Glu2Lys					HMG20A_ENST00000336216.4_Missense_Mutation_p.E2K	p.E2K	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN			3	432	+			2					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.4G>A	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998450	0.54147	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.70282	-0.47;-0.47	5.86	4.94	0.65067	.	0.203507	0.44097	D	0.000481	T	0.57695	0.2071	N	0.24115	0.695	0.39368	D	0.966035	B;P	0.37330	0.149;0.59	B;B	0.34652	0.026;0.187	T	0.64495	-0.6394	10	0.66056	D	0.02	-6.0498	14.4119	0.67119	0.0:0.0:0.852:0.148	.	2;2	Q9NP66;Q9NP66-2	HM20A_HUMAN;.	K	2	ENSP00000336856:E2K;ENSP00000371133:E2K	ENSP00000336856:E2K	E	+	1	0	HMG20A	75537808	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.961000	0.70356	1.469000	0.48083	0.563000	0.77884	GAA		0.403	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		7	43	0	0	0	1	0	7	43				
NBN	4683	broad.mit.edu	37	8	90960053	90960053	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90960053G>A	ENST00000265433.3	-	12	2067	c.1913C>T	c.(1912-1914)tCt>tTt	p.S638F	NBN_ENST00000409330.1_Splice_Site_p.S556F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	638					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTTCTCACAGATATTTCTTT	0.303								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e12+1	Homologous recombination	nibrin							73.0	69.0	71.0					8																	90960053		2199	4294	6493	SO:0001630	splice_region_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90960053G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1914+1C>T	8.37:g.90960053G>A						NBN_ENST00000409330.1_Splice_Site_p.S556_splice	p.S638_splice	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		12	2067	-			638					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Splice_Site	SNP	ENST00000265433.3	37	c.1914_splice	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	7.896	0.733341	0.15574	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.60299	1.98;0.2	4.8	1.72	0.24424	.	1.618830	0.03134	N	0.165530	T	0.38983	0.1061	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.19844	-1.0293	10	0.25751	T	0.34	-0.0629	5.8453	0.18663	0.0932:0.0:0.4444:0.4623	.	638;638	A6H8Y5;O60934	.;NBN_HUMAN	F	638;556	ENSP00000265433:S638F;ENSP00000386924:S556F	ENSP00000265433:S638F	S	-	2	0	NBN	91029229	0.119000	0.22226	0.391000	0.26233	0.443000	0.32047	0.528000	0.23002	0.528000	0.28580	0.591000	0.81541	TCT		0.303	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	Missense_Mutation	6	9	0	0	0	1	0	6	9				
ESRP2	80004	broad.mit.edu	37	16	68266665	68266665	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68266665A>G	ENST00000565858.1	-	6	795	c.709T>C	c.(709-711)Tgc>Cgc	p.C237R	ESRP2_ENST00000473183.2_Splice_Site_p.C237R	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	237					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACACTCACCAAGGCCCCGTC	0.577																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.e6+1		epithelial splicing regulatory protein 2							138.0	129.0	132.0					16																	68266665		2198	4300	6498	SO:0001630	splice_region_variant	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68266665A>G	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.710+1T>C	16.37:g.68266665A>G						ESRP2_ENST00000565858.1_Splice_Site_p.C237_splice	p.C237_splice			Q9H6T0	ESRP2_HUMAN			6	1247	-			237					Q8N6H8|Q8WZ15|Q9H6I4	Splice_Site	SNP	ENST00000565858.1	37	c.710_splice		.	.	.	.	.	.	.	.	.	.	A	17.45	3.391790	0.62066	.	.	ENSG00000103067	ENST00000473183	T	0.12984	2.63	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.77557	0.943;0.99	T	0.02805	-1.1108	10	0.59425	D	0.04	-20.4625	14.1388	0.65306	1.0:0.0:0.0:0.0	.	237;237	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	R	237	ENSP00000418748:C237R	ENSP00000418748:C237R	C	-	1	0	ESRP2	66824166	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.872000	0.69636	2.279000	0.76181	0.459000	0.35465	TGC		0.577	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939	Missense_Mutation	43	96	0	0	0	1	0	43	96				
KRR1	11103	broad.mit.edu	37	12	75897696	75897696	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897696T>A	ENST00000229214.4	-	7	842	c.819A>T	c.(817-819)caA>caT	p.Q273H	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	273	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GACTTTCTGGTTGTGGTGGTG	0.338																																						ENST00000229214.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(817-819)caA>caT		KRR1, small subunit (SSU) processome component, homolog (yeast)							243.0	235.0	238.0					12																	75897696		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75897696T>A	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.819A>T	12.37:g.75897696T>A	ENSP00000229214:p.Gln273His					KRR1_ENST00000438169.2_Intron	p.Q273H	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			7	842	-			273			Lys-rich.		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.819A>T	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736321	0.69189	.	.	ENSG00000111615	ENST00000229214	T	0.30448	1.53	5.73	0.669	0.17918	.	0.056069	0.64402	D	0.000001	T	0.51346	0.1669	M	0.91196	3.185	0.80722	D	1	D	0.56746	0.977	P	0.55161	0.77	T	0.58261	-0.7667	10	0.72032	D	0.01	0.0862	9.6182	0.39706	0.0:0.4778:0.0:0.5222	.	273	Q13601	KRR1_HUMAN	H	273	ENSP00000229214:Q273H	ENSP00000229214:Q273H	Q	-	3	2	KRR1	74183963	0.743000	0.28239	0.998000	0.56505	0.913000	0.54294	-0.122000	0.10627	0.062000	0.16340	-0.354000	0.07668	CAA		0.338	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		8	204	0	0	0	1	0	8	204				
UBE2O	63893	broad.mit.edu	37	17	74395629	74395629	+	Missense_Mutation	SNP	G	G	A	rs529447432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74395629G>A	ENST00000319380.7	-	9	1593	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	510					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTGCGACTCGTGCCGCTGCC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20761	0.0		0.0	False		,,,				2504	0.001					ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1528-1530)aCg>aTg		ubiquitin-conjugating enzyme E2O							191.0	158.0	169.0					17																	74395629		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74395629G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1529C>T	17.37:g.74395629G>A	ENSP00000323687:p.Thr510Met						p.T510M	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			9	1593	-			510					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.1529C>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410554	0.83340	.	.	ENSG00000175931	ENST00000319380	T	0.74315	-0.83	4.53	4.53	0.55603	.	0.061219	0.64402	D	0.000005	T	0.69851	0.3157	L	0.50333	1.59	0.44745	D	0.997749	D	0.61697	0.99	B	0.40659	0.336	T	0.75662	-0.3240	10	0.52906	T	0.07	-3.2025	17.6228	0.88086	0.0:0.0:1.0:0.0	.	510	Q9C0C9	UBE2O_HUMAN	M	510	ENSP00000323687:T510M	ENSP00000323687:T510M	T	-	2	0	UBE2O	71907224	0.998000	0.40836	0.877000	0.34402	0.979000	0.70002	6.666000	0.74446	2.220000	0.72140	0.655000	0.94253	ACG		0.547	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		9	86	0	0	0	1	0	9	86				
COL1A2	1278	broad.mit.edu	37	7	94059628	94059628	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94059628C>A	ENST00000297268.6	+	52	4495	c.4024C>A	c.(4024-4026)Ctt>Att	p.L1342I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1342	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGCCCTTCCTTGATATTGC	0.363										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(4024-4026)Ctt>Att		collagen, type I, alpha 2	Collagenase(DB00048)						218.0	208.0	212.0					7																	94059628		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94059628C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.4024C>A	7.37:g.94059628C>A	ENSP00000297268:p.Leu1342Ile	HNSCC(75;0.22)					p.L1342I	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		52	4495	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1342			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.4024C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	6.007	0.369771	0.11352	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.73681	-0.77	5.35	5.35	0.76521	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	N	0.21194	0.64	0.58432	D	0.999998	D;D	0.63046	0.983;0.992	D;P	0.67231	0.95;0.832	T	0.65837	-0.6071	10	0.02654	T	1	.	19.9544	0.97215	0.0:1.0:0.0:0.0	.	194;1342	B4DTF5;P08123	.;CO1A2_HUMAN	I	1342;1343	ENSP00000297268:L1342I	ENSP00000297268:L1342I	L	+	1	0	COL1A2	93897564	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.848000	0.62874	2.885000	0.99019	0.655000	0.94253	CTT		0.363	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		79	180	1	0	1.75807e-36	1	2.36626e-36	79	180				
IFRD1	3475	broad.mit.edu	37	7	112097052	112097052	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112097052G>T	ENST00000403825.3	+	4	629	c.368G>T	c.(367-369)aGa>aTa	p.R123I	IFRD1_ENST00000535603.1_Missense_Mutation_p.R73I|IFRD1_ENST00000429071.1_Missense_Mutation_p.R123I|IFRD1_ENST00000005558.4_Missense_Mutation_p.R123I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	123					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CTGGAAAGGAGAATGACTTTA	0.373																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(367-369)aGa>aTa		interferon-related developmental regulator 1							91.0	89.0	90.0					7																	112097052		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112097052G>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.368G>T	7.37:g.112097052G>T	ENSP00000384477:p.Arg123Ile					IFRD1_ENST00000535603.1_Missense_Mutation_p.R73I|IFRD1_ENST00000005558.4_Missense_Mutation_p.R123I|IFRD1_ENST00000429071.1_Missense_Mutation_p.R123I	p.R123I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			4	629	+			123					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.368G>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240070	0.95240	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T;T	0.62105	0.05;0.05;1.57;0.05	5.45	5.45	0.79879	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.992	T	0.83316	-0.0020	10	0.87932	D	0	-33.5236	19.6181	0.95643	0.0:0.0:1.0:0.0	.	123;123	C9JA65;O00458	.;IFRD1_HUMAN	I	123;123;123;73;73;73	ENSP00000005558:R123I;ENSP00000384477:R123I;ENSP00000402177:R73I;ENSP00000439188:R73I	ENSP00000005558:R123I	R	+	2	0	IFRD1	111884288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.706000	0.92434	0.591000	0.81541	AGA		0.373	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		4	86	1	0	0.000602214	1	0.000649039	4	86				
OR2M3	127062	broad.mit.edu	37	1	248366786	248366786	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248366786A>C	ENST00000456743.1	+	1	455	c.417A>C	c.(415-417)aaA>aaC	p.K139N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGCCCTAAAATTTGTGGAC	0.468																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(415-417)aaA>aaC		olfactory receptor, family 2, subfamily M, member 3							211.0	211.0	211.0					1																	248366786		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366786A>C		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.417A>C	1.37:g.248366786A>C	ENSP00000389625:p.Lys139Asn						p.K139N	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	455	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		139					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.417A>C	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	8.108	0.778235	0.16120	.	.	ENSG00000228198	ENST00000456743	T	0.40225	1.04	2.25	-0.17	0.13335	GPCR, rhodopsin-like superfamily (1);	0.815277	0.09982	U	0.730824	T	0.41488	0.1161	M	0.67700	2.07	0.09310	N	1	B	0.12630	0.006	B	0.29862	0.108	T	0.49360	-0.8948	10	0.59425	D	0.04	.	6.3954	0.21609	0.6175:0.0:0.3825:0.0	.	139	Q8NG83	OR2M3_HUMAN	N	139	ENSP00000389625:K139N	ENSP00000389625:K139N	K	+	3	2	OR2M3	246433409	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-3.289000	0.00525	0.132000	0.18615	0.333000	0.21579	AAA		0.468	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		36	264	0	0	0	1	0	36	264				
CEP135	9662	broad.mit.edu	37	4	56877605	56877605	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877605G>T	ENST00000257287.4	+	20	2657	c.2533G>T	c.(2533-2535)Gtg>Ttg	p.V845L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	845					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGCAGCAGTGCAAGAAAA	0.308																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2533-2535)Gtg>Ttg		centrosomal protein 135kDa							84.0	87.0	86.0					4																	56877605		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56877605G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2533G>T	4.37:g.56877605G>T	ENSP00000257287:p.Val845Leu						p.V845L	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			20	2657	+	Glioma(25;0.08)|all_neural(26;0.101)		845					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.2533G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482552	0.04383	.	.	ENSG00000174799	ENST00000257287	T	0.13538	2.58	5.11	1.22	0.21188	.	0.406598	0.28360	N	0.015624	T	0.07188	0.0182	L	0.31664	0.95	0.27939	N	0.937597	B	0.06786	0.001	B	0.08055	0.003	T	0.21348	-1.0248	10	0.29301	T	0.29	.	1.4253	0.02321	0.3672:0.1386:0.3533:0.1409	.	845	Q66GS9	CP135_HUMAN	L	845	ENSP00000257287:V845L	ENSP00000257287:V845L	V	+	1	0	CEP135	56572362	0.963000	0.33076	0.998000	0.56505	0.832000	0.47134	0.129000	0.15830	0.552000	0.29026	0.591000	0.81541	GTG		0.308	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		13	33	1	0	0.0202918	1	0.0209785	13	33				
DENND2C	163259	broad.mit.edu	37	1	115130424	115130424	+	Missense_Mutation	SNP	C	C	T	rs370366211		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115130424C>T	ENST00000393274.1	-	19	3206	c.2581G>A	c.(2581-2583)Gta>Ata	p.V861I	DENND2C_ENST00000393277.1_Missense_Mutation_p.V749I|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.V804I	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	861	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTGGCGTACACTTCGGGAG	0.478																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2581-2583)Gta>Ata		DENN/MADD domain containing 2C		C	ILE/VAL	0,4406		0,0,2203	100.0	84.0	90.0		2410	5.9	1.0	1		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	DENND2C	NM_198459.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	804/872	115130424	1,13005	2203	4300	6503	SO:0001583	missense	163259							g.chr1:115130424C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2581G>A	1.37:g.115130424C>T	ENSP00000376955:p.Val861Ile					DENND2C_ENST00000393276.3_Missense_Mutation_p.V804I|DENND2C_ENST00000393277.1_Missense_Mutation_p.V749I|DENND2C_ENST00000481894.1_5'UTR	p.V861I	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3206	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	861			dDENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2581G>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236263	0.39498	0.0	1.16E-4	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.42131	0.98;0.98;0.98	5.9	5.9	0.94986	dDENN (3);	0.124525	0.53938	D	0.000046	T	0.22666	0.0547	N	0.05351	-0.065	0.29774	N	0.834576	D;B	0.65815	0.995;0.109	D;B	0.66497	0.944;0.061	T	0.05007	-1.0912	10	0.05620	T	0.96	.	15.7808	0.78257	0.0:0.8645:0.1355:0.0	.	861;804	Q68D51;Q68D51-3	DEN2C_HUMAN;.	I	804;861;861;749	ENSP00000376957:V804I;ENSP00000376955:V861I;ENSP00000376958:V749I	ENSP00000358553:V861I	V	-	1	0	DENND2C	114931947	0.966000	0.33281	0.991000	0.47740	0.925000	0.55904	2.388000	0.44398	2.817000	0.96982	0.551000	0.68910	GTA		0.478	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		19	50	0	0	0	1	0	19	50				
ZNF629	23361	broad.mit.edu	37	16	30794000	30794000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794000C>T	ENST00000262525.4	-	3	1856	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCCAGCAGGCTGTCGCCCTG	0.692																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1648-1650)aGc>aAc		zinc finger protein 629							18.0	19.0	19.0					16																	30794000		2003	4149	6152	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794000C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1649G>A	16.37:g.30794000C>T	ENSP00000262525:p.Ser550Asn						p.S550N	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1856	-			550					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1649G>A	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236517	0.22711	.	.	ENSG00000102870	ENST00000262525	T	0.08896	3.04	5.79	-0.594	0.11664	.	2.634840	0.01449	N	0.015395	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.53823	-0.8384	10	0.59425	D	0.04	-0.9177	21.7482	0.99960	0.0:0.648:0.352:0.0	.	550	Q9UEG4	ZN629_HUMAN	N	550	ENSP00000262525:S550N	ENSP00000262525:S550N	S	-	2	0	ZNF629	30701501	0.727000	0.28069	0.000000	0.03702	0.004000	0.04260	-0.398000	0.07259	-0.146000	0.11274	-0.216000	0.12614	AGC		0.692	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		4	3	0	0	0	1	0	4	3				
TMEM154	201799	broad.mit.edu	37	4	153573838	153573838	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153573838T>A	ENST00000304385.3	-	2	537	c.306A>T	c.(304-306)aaA>aaT	p.K102N	TMEM154_ENST00000504064.1_Missense_Mutation_p.K102N	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	102						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCTTTTTCTTTTATAGTATG	0.303																																						ENST00000304385.3																			0				kidney(2)|large_intestine(1)	3						c.(304-306)aaA>aaT		transmembrane protein 154							87.0	88.0	88.0					4																	153573838		2203	4300	6503	SO:0001583	missense	201799					integral to membrane		g.chr4:153573838T>A	AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.306A>T	4.37:g.153573838T>A	ENSP00000302144:p.Lys102Asn					TMEM154_ENST00000504064.1_Missense_Mutation_p.K102N	p.K102N	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN			2	537	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	102					Q8WUT7|Q96MQ8	Missense_Mutation	SNP	ENST00000304385.3	37	c.306A>T	CCDS3779.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699762	0.48307	.	.	ENSG00000170006	ENST00000304385;ENST00000504064	T;T	0.46451	0.87;0.87	5.74	0.289	0.15723	.	0.366629	0.28072	N	0.016717	T	0.30166	0.0756	L	0.44542	1.39	0.09310	N	1	P	0.35107	0.484	B	0.37888	0.26	T	0.11966	-1.0566	10	0.40728	T	0.16	0.2352	4.4344	0.11544	0.0:0.2534:0.1603:0.5863	.	102	Q6P9G4	TM154_HUMAN	N	102	ENSP00000302144:K102N;ENSP00000422156:K102N	ENSP00000302144:K102N	K	-	3	2	TMEM154	153793288	0.907000	0.30839	0.008000	0.14137	0.061000	0.15899	0.191000	0.17076	0.122000	0.18314	0.524000	0.50904	AAA		0.303	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680		4	48	0	0	0	1	0	4	48				
PORCN	64840	broad.mit.edu	37	X	48369778	48369778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48369778C>A	ENST00000326194.6	+	2	275	c.232C>A	c.(232-234)Ctc>Atc	p.L78I	PORCN_ENST00000359882.4_Missense_Mutation_p.L78I|PORCN_ENST00000537758.1_Missense_Mutation_p.L78I|PORCN_ENST00000355961.4_Missense_Mutation_p.L78I|PORCN_ENST00000367574.4_Missense_Mutation_p.L7I|PORCN_ENST00000355092.3_Missense_Mutation_p.L78I|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000361988.3_Missense_Mutation_p.L78I	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	78	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCGTGCTGCTCAGCCTCCT	0.567											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367574.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(19-21)Ctc>Atc		porcupine homolog (Drosophila)							268.0	192.0	218.0					X																	48369778		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48369778C>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.232C>A	X.37:g.48369778C>A	ENSP00000322304:p.Leu78Ile		OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	PORCN_ENST00000359882.4_Missense_Mutation_p.L78I|PORCN_ENST00000355092.3_Missense_Mutation_p.L78I|PORCN_ENST00000537758.1_Missense_Mutation_p.L78I|PORCN_ENST00000361988.3_Missense_Mutation_p.L78I|PORCN_ENST00000355961.4_Missense_Mutation_p.L78I|PORCN_ENST00000326194.6_Missense_Mutation_p.L78I	p.L7I			Q9H237	PORCN_HUMAN			3	524	+			78					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.19C>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900081	0.92035	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D;D	0.98090	-3.72;-4.71;-3.26;-3.71;-2.7;-3.69;-4.71;-3.72	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.80746	2.51	0.54753	D	0.999986	D;D;P;D;D;D	0.76494	0.992;0.986;0.629;0.992;0.992;0.999	P;P;B;P;P;D	0.70935	0.906;0.803;0.152;0.906;0.846;0.971	D	0.98760	1.0724	10	0.49607	T	0.09	-12.9782	13.2839	0.60232	0.0:1.0:0.0:0.0	.	78;78;7;78;78;78	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.;.	I	78;78;7;78;78;78;78;78	ENSP00000352946:L78I;ENSP00000446401:L78I;ENSP00000356546:L7I;ENSP00000348233:L78I;ENSP00000419212:L78I;ENSP00000354978:L78I;ENSP00000322304:L78I;ENSP00000347207:L78I	ENSP00000322304:L78I	L	+	1	0	PORCN	48254722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.683000	0.74533	2.198000	0.70561	0.436000	0.28706	CTC		0.567	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		14	116	1	0	1.49906e-05	1	1.69169e-05	14	116				
DXO	1797	broad.mit.edu	37	6	31938862	31938862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938862G>A	ENST00000375349.3	-	3	830	c.419C>T	c.(418-420)aCg>aTg	p.T140M	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000375356.3_Missense_Mutation_p.T140M|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Missense_Mutation_p.T140M|STK19_ENST00000375331.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	140					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										ATACGGTGTCGTCAGCAGTTT	0.622																																						ENST00000375349.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-420)aCg>aTg									78.0	85.0	82.0					6																	31938862		1509	2708	4217	SO:0001583	missense	0						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938862G>A	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.419C>T	6.37:g.31938862G>A	ENSP00000364498:p.Thr140Met					DOM3Z_ENST00000337523.5_Missense_Mutation_p.T140M|DOM3Z_ENST00000375356.3_Missense_Mutation_p.T140M|DOM3Z_ENST00000478221.1_5'UTR	p.T140M			O77932	DOM3Z_HUMAN			3	830	-			140					A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.419C>T	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745245	0.49151	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.19938	2.11;2.11;2.11	4.78	4.78	0.61160	.	0.118481	0.56097	D	0.000031	T	0.30070	0.0753	M	0.69523	2.12	0.34056	D	0.656713	D;D	0.76494	0.999;0.997	D;P	0.65140	0.932;0.732	T	0.06127	-1.0844	10	0.34782	T	0.22	-11.7487	12.585	0.56412	0.0:0.1678:0.8322:0.0	.	140;140	F8WC68;O77932	.;DOM3Z_HUMAN	M	140	ENSP00000337759:T140M;ENSP00000364498:T140M;ENSP00000364505:T140M	ENSP00000337759:T140M	T	-	2	0	DOM3Z	32046841	1.000000	0.71417	0.947000	0.38551	0.634000	0.38068	4.626000	0.61269	2.472000	0.83506	0.462000	0.41574	ACG		0.622	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			17	44	0	0	0	1	0	17	44				
BRCA1	672	broad.mit.edu	37	17	41244542	41244542	+	Missense_Mutation	SNP	G	G	T	rs80357601|rs80357846		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244542G>T	ENST00000357654.3	-	10	3124	c.3006C>A	c.(3004-3006)aaC>aaA	p.N1002K	BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N1002K|BRCA1_ENST00000346315.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000354071.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N955K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.N706K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1002					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTCAAAGTTTTCCTCTA	0.333			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(2116-2118)aaC>aaA	Homologous recombination	breast cancer 1, early onset							96.0	96.0	96.0					17																	41244542		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244542G>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3006C>A	17.37:g.41244542G>T	ENSP00000350283:p.Asn1002Lys	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N1002K|BRCA1_ENST00000354071.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000357654.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N955K|BRCA1_ENST00000491747.2_Intron	p.N706K	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3145	-		Breast(137;0.000717)	1002					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2118C>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.191388	0.00302	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.56	-1.39	0.08997	.	1.294440	0.05262	N	0.515855	T	0.42720	0.1215	N	0.04116	-0.275	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.001	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.001	T	0.22521	-1.0214	10	0.12766	T	0.61	.	4.9394	0.13958	0.0:0.3814:0.2846:0.334	.	1002;961;1002;1002;1002;1002	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	K	1002;1002;1002;1002;706;1002;955	ENSP00000350283:N1002K;ENSP00000326002:N1002K;ENSP00000246907:N1002K;ENSP00000310938:N706K;ENSP00000418960:N1002K;ENSP00000418775:N955K	ENSP00000310938:N706K	N	-	3	2	BRCA1	38498068	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.058000	0.01394	-0.055000	0.13244	-0.884000	0.02946	AAC		0.333	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		64	77	1	0	1.31171e-36	1	1.76586e-36	64	77				
ACKR3	57007	broad.mit.edu	37	2	237490082	237490082	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237490082A>G	ENST00000272928.3	+	2	1284	c.974A>G	c.(973-975)gAg>gGg	p.E325G		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	325	C-terminal cytoplasmic tail.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										TACAGGTACGAGCTGATGAAG	0.557																																						ENST00000272928.3																			0											c.(973-975)gAg>gGg		atypical chemokine receptor 3							82.0	68.0	73.0					2																	237490082		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237490082A>G	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.974A>G	2.37:g.237490082A>G	ENSP00000272928:p.Glu325Gly						p.E325G	NM_020311.2	NP_064707.1					2	1284	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.974A>G	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935186	0.73442	.	.	ENSG00000144476	ENST00000272928	T	0.37058	1.22	5.41	5.41	0.78517	.	0.052443	0.85682	D	0.000000	T	0.29028	0.0721	N	0.14661	0.345	0.58432	D	0.999995	D	0.57257	0.979	P	0.47528	0.549	T	0.04946	-1.0916	9	.	.	.	.	15.4636	0.75381	1.0:0.0:0.0:0.0	.	325	P25106	CXCR7_HUMAN	G	325	ENSP00000272928:E325G	.	E	+	2	0	CXCR7	237154821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.061000	0.93913	2.052000	0.61016	0.533000	0.62120	GAG		0.557	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		6	37	0	0	0	1	0	6	37				
C9orf131	138724	broad.mit.edu	37	9	35043629	35043629	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35043629G>T	ENST00000312292.5	+	2	1050	c.1003G>T	c.(1003-1005)Gct>Tct	p.A335S	C9orf131_ENST00000354479.5_Missense_Mutation_p.A262S|C9orf131_ENST00000421362.2_Missense_Mutation_p.A287S|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	335										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GATGCCCCAAGCTTTTGAGCC	0.532																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1003-1005)Gct>Tct		chromosome 9 open reading frame 131							172.0	195.0	187.0					9																	35043629		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043629G>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1003G>T	9.37:g.35043629G>T	ENSP00000308279:p.Ala335Ser					C9orf131_ENST00000421362.2_Missense_Mutation_p.A287S|C9orf131_ENST00000354479.5_Missense_Mutation_p.A262S	p.A335S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1050	+	all_epithelial(49;0.22)		335					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1003G>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776092	0.49786	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.17691	2.27;2.26;2.27	4.88	0.716	0.18191	.	0.825224	0.10479	N	0.669851	T	0.17408	0.0418	L	0.61218	1.895	0.09310	N	1	P;P;P	0.41041	0.582;0.579;0.736	B;B;B	0.40444	0.329;0.209;0.329	T	0.19224	-1.0312	10	0.66056	D	0.02	0.7354	3.9364	0.09307	0.2787:0.0:0.5563:0.1651	.	335;262;287	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	S	287;262;335	ENSP00000393683:A287S;ENSP00000346472:A262S;ENSP00000308279:A335S	ENSP00000308279:A335S	A	+	1	0	C9orf131	35033629	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.093000	0.11111	0.247000	0.21414	0.655000	0.94253	GCT		0.532	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		89	194	1	0	5.21634e-54	1	7.05771e-54	89	194				
RCBTB2	1102	broad.mit.edu	37	13	49070385	49070385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49070385C>T	ENST00000344532.3	-	14	1880	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	RCBTB2_ENST00000544492.1_Missense_Mutation_p.G212D|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G491D	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	486					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CTCGCAGATGCCTTGCTTGAT	0.493																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1456-1458)gGc>gAc		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							111.0	103.0	105.0					13																	49070385		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49070385C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1457G>A	13.37:g.49070385C>T	ENSP00000345144:p.Gly486Asp					RCBTB2_ENST00000544492.1_Missense_Mutation_p.G212D|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G491D	p.G486D	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	14	1880	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	486					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1457G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.650953	0.87958	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.21932	1.98;1.98;1.98	5.04	5.04	0.67666	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.48174	1.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;1.0;0.997	T	0.15350	-1.0440	10	0.49607	T	0.09	.	18.7477	0.91800	0.0:1.0:0.0:0.0	.	212;491;438;486	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	D	486;438;491;491;212	ENSP00000345144:G486D;ENSP00000389910:G491D;ENSP00000443862:G212D	ENSP00000345144:G486D	G	-	2	0	RCBTB2	47968386	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	7.408000	0.80041	2.499000	0.84300	0.558000	0.71614	GGC		0.493	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		25	48	0	0	0	1	0	25	48				
NOTCH1	4851	broad.mit.edu	37	9	139397687	139397687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397687G>A	ENST00000277541.6	-	27	5189	c.5114C>T	c.(5113-5115)gCg>gTg	p.A1705V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1705					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGAGGCGAGCGCTCCCAGGAA	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5113-5115)gCg>gTg		notch 1							50.0	60.0	56.0					9																	139397687		2125	4246	6371	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397687G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5114C>T	9.37:g.139397687G>A	ENSP00000277541:p.Ala1705Val	HNSCC(8;0.001)					p.A1705V	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5189	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1705					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5114C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589549	0.86851	.	.	ENSG00000148400	ENST00000277541	T	0.72615	-0.67	4.95	4.95	0.65309	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89955	0.4082	10	0.87932	D	0	.	17.524	0.87794	0.0:0.0:1.0:0.0	.	1705	P46531	NOTC1_HUMAN	V	1705	ENSP00000277541:A1705V	ENSP00000277541:A1705V	A	-	2	0	NOTCH1	138517508	1.000000	0.71417	0.370000	0.25965	0.212000	0.24457	9.579000	0.98204	2.457000	0.83068	0.561000	0.74099	GCG		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	26	0	0	0	1	0	7	26				
SGCB	6443	broad.mit.edu	37	4	52895891	52895891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52895891C>A	ENST00000381431.5	-	3	604	c.382G>T	c.(382-384)Gga>Tga	p.G128*	SGCB_ENST00000535450.1_Nonsense_Mutation_p.G58*	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	128	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGCCTTCCTCCTACTGTGCTT	0.428																																						ENST00000381431.5																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17						c.(382-384)Gga>Tga		sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)							121.0	104.0	110.0					4																	52895891		2203	4300	6503	SO:0001587	stop_gained	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52895891C>A	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.382G>T	4.37:g.52895891C>A	ENSP00000370839:p.Gly128*					SGCB_ENST00000535450.1_Nonsense_Mutation_p.G58*	p.G128*	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	604	-			128			Cys-rich.		B7Z635|O00661	Nonsense_Mutation	SNP	ENST00000381431.5	37	c.382G>T	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	37	6.591224	0.97688	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-38.8081	17.6056	0.88036	0.0:1.0:0.0:0.0	.	.	.	.	X	128;58	.	ENSP00000370839:G128X	G	-	1	0	SGCB	52590648	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	7.609000	0.82925	2.397000	0.81536	0.591000	0.81541	GGA		0.428	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			31	40	1	0	9.65021e-13	1	1.21719e-12	31	40				
KAT6A	7994	broad.mit.edu	37	8	41839368	41839368	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41839368C>A	ENST00000396930.3	-	5	1357	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	KAT6A_ENST00000406337.1_Missense_Mutation_p.G272C|KAT6A_ENST00000265713.2_Missense_Mutation_p.G272C|KAT6A_ENST00000485568.1_Missense_Mutation_p.G272C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	272	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G272S(1)									GCATTTTTGCCTTGATCTCGA	0.423																																						ENST00000396930.3																			1	Substitution - Missense(1)	p.G272S(1)	skin(1)								c.(814-816)Ggc>Tgc		K(lysine) acetyltransferase 6A							116.0	83.0	94.0					8																	41839368		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41839368C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.814G>T	8.37:g.41839368C>A	ENSP00000380136:p.Gly272Cys					KAT6A_ENST00000406337.1_Missense_Mutation_p.G272C|KAT6A_ENST00000265713.2_Missense_Mutation_p.G272C|KAT6A_ENST00000485568.1_Missense_Mutation_p.G272C	p.G272C	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			5	1357	-			272					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.814G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226804	0.58668	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	D	0.93739	0.7999	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93564	0.6898	10	0.87932	D	0	-23.8382	20.3552	0.98837	0.0:1.0:0.0:0.0	.	272;272	A5PLL3;Q92794	.;KAT6A_HUMAN	C	272	ENSP00000265713:G272C;ENSP00000385888:G272C;ENSP00000380136:G272C;ENSP00000430606:G272C	ENSP00000265713:G272C	G	-	1	0	KAT6A	41958525	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.812000	0.96745	0.557000	0.71058	GGC		0.423	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		4	29	1	0	1.024e-07	1	1.214e-07	4	29				
MED13L	23389	broad.mit.edu	37	12	116421083	116421083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116421083C>A	ENST00000281928.3	-	21	5000	c.4794G>T	c.(4792-4794)caG>caT	p.Q1598H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1598	Ser-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAGTGCTTATCTGGCTAATAC	0.517																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(4792-4794)caG>caT		mediator complex subunit 13-like							109.0	102.0	104.0					12																	116421083		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116421083C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4794G>T	12.37:g.116421083C>A	ENSP00000281928:p.Gln1598His						p.Q1598H	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	21	5000	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1598			Ser-rich.		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4794G>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.64|14.64	2.595070|2.595070	0.46318|0.46318	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000549786	T|.	0.74106|.	-0.81|.	6.17|6.17	1.92|1.92	0.25849|0.25849	.|.	0.263218|.	0.39759|.	N|.	0.001274|.	T|T	0.25457|0.25457	0.0619|0.0619	N|N	0.14661|0.14661	0.345|0.345	0.32467|0.32467	N|N	0.543276|0.543276	P|.	0.39576|.	0.679|.	B|.	0.37833|.	0.259|.	T|T	0.33240|0.33240	-0.9876|-0.9876	10|5	0.40728|.	T|.	0.16|.	.|.	7.2924|7.2924	0.26374|0.26374	0.0:0.6503:0.1269:0.2228|0.0:0.6503:0.1269:0.2228	.|.	1598|.	Q71F56|.	MD13L_HUMAN|.	H|I	1598|53	ENSP00000281928:Q1598H|.	ENSP00000281928:Q1598H|.	Q|R	-|-	3|2	2|0	MED13L|MED13L	114905466|114905466	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.304000|1.304000	0.33482|0.33482	0.943000|0.943000	0.37553|0.37553	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			5	36	1	0	0.184627	1	0.186383	5	36				
ZNF786	136051	broad.mit.edu	37	7	148768026	148768026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768026C>T	ENST00000491431.1	-	4	1902	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H	ZNF786_ENST00000316286.9_Missense_Mutation_p.R527H|ZNF786_ENST00000451334.3_Missense_Mutation_p.R576H	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTGTGCAGGCGCTGATGGCT	0.657																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1579-1581)cGc>cAc		zinc finger protein 786							37.0	41.0	40.0					7																	148768026		2187	4286	6473	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768026C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1838G>A	7.37:g.148768026C>T	ENSP00000417470:p.Arg613His					ZNF786_ENST00000491431.1_Missense_Mutation_p.R613H|ZNF786_ENST00000451334.3_Missense_Mutation_p.R576H	p.R527H			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1852	-	Melanoma(164;0.15)		613					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.1580G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062918	0.36373	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.25749	1.78;1.78;1.78	4.45	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38720	N	0.001583	T	0.52853	0.1760	M	0.86805	2.84	0.26639	N	0.972314	D	0.89917	1.0	D	0.77004	0.989	T	0.50591	-0.8810	10	0.87932	D	0	-27.8856	10.9528	0.47341	0.2792:0.7207:0.0:0.0	.	613	Q8N393	ZN786_HUMAN	H	527;613;576	ENSP00000313516:R527H;ENSP00000417470:R613H;ENSP00000404984:R576H	ENSP00000313516:R527H	R	-	2	0	ZNF786	148398959	0.000000	0.05858	1.000000	0.80357	0.059000	0.15707	-0.546000	0.06062	1.080000	0.41073	0.655000	0.94253	CGC		0.657	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		12	37	0	0	0	1	0	12	37				
ZBTB20	26137	broad.mit.edu	37	3	114070389	114070389	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:114070389A>G	ENST00000474710.1	-	4	714	c.536T>C	c.(535-537)aTc>aCc	p.I179T	ZBTB20_ENST00000462705.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.I106T|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.I106T|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.I106T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	179						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATCTGCAGGATGCTGGCGGC	0.597																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(316-318)aTc>aCc		zinc finger and BTB domain containing 20							72.0	58.0	63.0					3																	114070389		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070389A>G	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.536T>C	3.37:g.114070389A>G	ENSP00000419153:p.Ile179Thr					ZBTB20_ENST00000393785.2_Missense_Mutation_p.I106T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.I179T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.I106T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.I106T	p.I106T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1138	-			179			BTB.		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.317T>C	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956742	0.73902	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.72	5.72	0.89469	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	N	0.21324	0.655	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.16482	-1.0401	10	0.87932	D	0	.	15.9995	0.80280	1.0:0.0:0.0:0.0	.	179	Q9HC78	ZBT20_HUMAN	T	106;106;106;106;179;106;106	ENSP00000420324:I106T;ENSP00000377375:I106T;ENSP00000418092:I106T;ENSP00000419902:I106T;ENSP00000419153:I179T;ENSP00000349803:I106T;ENSP00000417307:I106T	ENSP00000349803:I106T	I	-	2	0	ZBTB20	115553079	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.186000	0.69663	0.528000	0.53228	ATC		0.597	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		5	41	0	0	0	1	0	5	41				
TTN	7273	broad.mit.edu	37	2	179640599	179640599	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640599G>A	ENST00000591111.1	-	28	6216	c.5992C>T	c.(5992-5994)Cgc>Tgc	p.R1998C	TTN_ENST00000460472.2_Missense_Mutation_p.R1952C|TTN_ENST00000359218.5_Missense_Mutation_p.R1952C|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1998C|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1998C|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1952C|TTN_ENST00000360870.5_Missense_Mutation_p.R1998C			Q8WZ42	TITIN_HUMAN	titin	12808			R -> H. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTACTGCGCAGCTCTTCC	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5992-5994)Cgc>Tgc		titin							113.0	120.0	117.0					2																	179640599		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640599G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5992C>T	2.37:g.179640599G>A	ENSP00000465570:p.Arg1998Cys					TTN_ENST00000460472.2_Missense_Mutation_p.R1952C|TTN_ENST00000360870.5_Missense_Mutation_p.R1998C|TTN_ENST00000342992.6_Missense_Mutation_p.R1998C|TTN_ENST00000359218.5_Missense_Mutation_p.R1952C|TTN_ENST00000342175.6_Missense_Mutation_p.R1952C|TTN_ENST00000591111.1_Missense_Mutation_p.R1998C	p.R1998C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6216	-			1748		R -> H.			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5992C>T		.	.	.	.	.	.	.	.	.	.	G	10.83	1.461264	0.26248	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;0.02;0.01;-0.0;0.12	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.75317	0.3833	L	0.32530	0.975	0.42195	D	0.991741	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	P;P;P;D;D	0.79108	0.869;0.869;0.893;0.939;0.992	T	0.78876	-0.2031	9	0.87932	D	0	.	18.5589	0.91094	0.0:0.0:1.0:0.0	.	1952;1952;1952;1998;1998	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1998;1952;1952;1952;1952;1998	ENSP00000343764:R1998C;ENSP00000434586:R1952C;ENSP00000340554:R1952C;ENSP00000352154:R1952C;ENSP00000354117:R1998C	ENSP00000340554:R1952C	R	-	1	0	TTN	179348844	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.040000	0.70980	2.387000	0.81309	0.609000	0.83330	CGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	107	0	0	0	1	0	56	107				
CHRNA4	1137	broad.mit.edu	37	20	61981023	61981023	+	Silent	SNP	G	G	A	rs377071784		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981023G>A	ENST00000370263.4	-	5	1961	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	580					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CTGTGTCTTCGGCCTTCAGGT	0.662																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1738-1740)gcC>gcT		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						53.0	60.0	58.0					20																	61981023		2202	4300	6502	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981023G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1740C>T	20.37:g.61981023G>A						CHRNA4_ENST00000463705.1_5'UTR	p.A580A	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1961	-	all_cancers(38;1.71e-10)		580					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1740C>T	CCDS13517.1																																																																																				0.662	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			28	51	0	0	0	1	0	28	51				
RSRP1	57035	broad.mit.edu	37	1	25569197	25569197	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25569197C>A	ENST00000243189.7	-	5	1033		c.e5-1		C1orf63_ENST00000417642.2_Splice_Site	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN												breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTACAGAATTCTGTAAAAGAA	0.338																																						ENST00000243189.7																			0				breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.e5-1		chromosome 1 open reading frame 63							96.0	90.0	92.0					1																	25569197		2201	4298	6499	SO:0001630	splice_region_variant	57035							g.chr1:25569197C>A																												ENST00000243189.7:c.757-1G>T	1.37:g.25569197C>A						C1orf63_ENST00000417642.2_Splice_Site		NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	1033	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)						A8K917|Q49AA4|Q5TH71|Q9GZP6	Splice_Site	SNP	ENST00000243189.7	37		CCDS260.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650713	0.47362	.	.	ENSG00000117616	ENST00000243189;ENST00000417642	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3432	0.74314	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf63	25441784	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.929000	0.56514	2.539000	0.85634	0.655000	0.94253	.		0.338	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2		Intron	4	55	1	0	0.184627	1	0.186383	4	55				
ACSBG1	23205	broad.mit.edu	37	15	78473133	78473133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78473133G>A	ENST00000258873.4	-	9	1422	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	ACSBG1_ENST00000560817.1_Missense_Mutation_p.S164L|ACSBG1_ENST00000541759.1_Missense_Mutation_p.S164L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	406					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAAGGTCACCGACATGGCCCA	0.637																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1216-1218)tCg>tTg		acyl-CoA synthetase bubblegum family member 1							76.0	73.0	74.0					15																	78473133		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78473133G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1217C>T	15.37:g.78473133G>A	ENSP00000258873:p.Ser406Leu					ACSBG1_ENST00000560817.1_Missense_Mutation_p.S164L|ACSBG1_ENST00000541759.1_Missense_Mutation_p.S164L	p.S406L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			9	1422	-			406					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1217C>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423030	0.62733	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.37411	1.52;1.2	5.63	5.63	0.86233	AMP-dependent synthetase/ligase (1);	0.247013	0.34879	N	0.003620	T	0.42063	0.1186	M	0.72894	2.215	0.38827	D	0.955761	P;P	0.47106	0.89;0.794	B;B	0.40199	0.322;0.309	T	0.48581	-0.9023	10	0.42905	T	0.14	-10.2924	18.6977	0.91607	0.0:0.0:1.0:0.0	.	402;406	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	L	406;164	ENSP00000258873:S406L;ENSP00000439955:S164L	ENSP00000258873:S406L	S	-	2	0	ACSBG1	76260188	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	5.079000	0.64431	2.652000	0.90054	0.655000	0.94253	TCG		0.637	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		20	44	0	0	0	1	0	20	44				
MS4A6A	64231	broad.mit.edu	37	11	59940569	59940569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59940569G>A	ENST00000530839.1	-	7	1075	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	MS4A6A_ENST00000528851.1_Silent_p.L195L|MS4A6A_ENST00000533023.1_Missense_Mutation_p.A96V|MS4A6A_ENST00000426738.2_Silent_p.L150L|MS4A6A_ENST00000412309.2_Silent_p.L223L|MS4A6A_ENST00000529054.1_Silent_p.L223L|MS4A6A_ENST00000323961.3_Silent_p.L195L|MS4A6A_ENST00000420732.2_Missense_Mutation_p.A160V	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	195						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAATTCCAGCAGAGTGCAA	0.498																																						ENST00000420732.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(478-480)gCt>gTt		membrane-spanning 4-domains, subfamily A, member 6A							156.0	142.0	147.0					11																	59940569		2201	4295	6496	SO:0001819	synonymous_variant	64231					integral to membrane	receptor activity	g.chr11:59940569G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.583C>T	11.37:g.59940569G>A						MS4A6A_ENST00000528851.1_Silent_p.L195L|MS4A6A_ENST00000426738.2_Silent_p.L150L|MS4A6A_ENST00000530839.1_Silent_p.L195L|MS4A6A_ENST00000412309.2_Silent_p.L223L|MS4A6A_ENST00000323961.3_Silent_p.L195L|MS4A6A_ENST00000533023.1_Missense_Mutation_p.A96V|MS4A6A_ENST00000529054.1_Silent_p.L223L	p.A160V			Q9H2W1	M4A6A_HUMAN			6	555	-			0					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.479C>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683881	0.29872	.	.	ENSG00000110077	ENST00000420732;ENST00000533023	T;T	0.27104	3.13;1.69	4.51	-2.47	0.06442	.	.	.	.	.	T	0.10852	0.0265	.	.	.	0.22629	N	0.998916	B	0.06786	0.001	B	0.10450	0.005	T	0.37384	-0.9708	8	0.13853	T	0.58	.	4.5354	0.12026	0.3706:0.2945:0.3349:0.0	.	160	Q9H2W1-3	.	V	160;96	ENSP00000392921:A160V;ENSP00000436172:A96V	ENSP00000392921:A160V	A	-	2	0	MS4A6A	59697145	0.006000	0.16342	0.002000	0.10522	0.002000	0.02628	-0.271000	0.08572	-0.580000	0.05944	-0.732000	0.03574	GCT		0.498	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			62	64	0	0	0	1	0	62	64				
SLC6A12	6539	broad.mit.edu	37	12	301737	301737	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:301737G>A	ENST00000428720.1	-	15	2351	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	SLC6A12_ENST00000397296.2_Silent_p.Y536Y|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000359674.4_Silent_p.Y536Y|SLC6A12_ENST00000536824.1_Silent_p.Y536Y|SLC6A12_ENST00000424061.2_Silent_p.Y536Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	536					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCAATGGAGTATCCCCAGG	0.567																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(1606-1608)taC>taT		solute carrier family 6 (neurotransmitter transporter), member 12							113.0	118.0	117.0					12																	301737		2203	4300	6503	SO:0001819	synonymous_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:301737G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1608C>T	12.37:g.301737G>A						SLC6A12_ENST00000359674.4_Silent_p.Y536Y|SLC6A12_ENST00000536824.1_Silent_p.Y536Y|SLC6A12_ENST00000397296.2_Silent_p.Y536Y|SLC6A12_ENST00000424061.2_Silent_p.Y536Y	p.Y536Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		15	2351	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		536					A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	c.1608C>T	CCDS8501.1																																																																																				0.567	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		23	44	0	0	0	1	0	23	44				
ADAMTSL2	9719	broad.mit.edu	37	9	136412159	136412159	+	Splice_Site	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136412159G>C	ENST00000354484.4	+	9	1320		c.e9-1		ADAMTSL2_ENST00000393061.3_Splice_Site|ADAMTSL2_ENST00000393060.1_Splice_Site	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGCCCTTCCAGCTCTTGCAGA	0.587																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.e9-1		ADAMTS-like 2							137.0	143.0	141.0					9																	136412159		2203	4300	6503	SO:0001630	splice_region_variant	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136412159G>C	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.764-1G>C	9.37:g.136412159G>C						ADAMTSL2_ENST00000354484.4_Splice_Site|ADAMTSL2_ENST00000393060.1_Splice_Site				Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	9	1522	+								B1B0D5|O60345	Splice_Site	SNP	ENST00000354484.4	37		CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738409	0.49045	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6451	0.91408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTSL2	135401980	1.000000	0.71417	0.735000	0.30896	0.344000	0.29017	9.714000	0.98744	2.385000	0.81259	0.561000	0.74099	.		0.587	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694	Intron	63	126	0	0	0	1	0	63	126				
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	A	rs138729528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7578407G>A	ENST00000269305.4	-	5	712	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TP53_ENST00000359597.4_Missense_Mutation_p.R175C|TP53_ENST00000455263.2_Missense_Mutation_p.R175C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175C|TP53_ENST00000445888.2_Missense_Mutation_p.R175C|TP53_ENST00000413465.2_Missense_Mutation_p.R175C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGGGCAGCGCCTCACAACC	0.657		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15591	0.0		0.0	False		,,,				2504	0.001				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM011013	TP53	M	rs138729528	c.(523-525)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578407		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578407G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.523C>T	17.37:g.7578407G>A	ENSP00000269305:p.Arg175Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R175C|TP53_ENST00000455263.2_Missense_Mutation_p.R175C|TP53_ENST00000445888.2_Missense_Mutation_p.R175C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175C|TP53_ENST00000413465.2_Missense_Mutation_p.R175C	p.R175C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	655	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.523C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778621	0.70107	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99837	0.9926	M	0.89030	3	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;0.998;0.989;1.0	D	0.98336	1.0536	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175C;ENSP00000352610:R175C;ENSP00000269305:R175C;ENSP00000398846:R175C;ENSP00000391127:R175C;ENSP00000391478:R175C;ENSP00000425104:R43C;ENSP00000423862:R82C	ENSP00000269305:R175C	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	34	0	0	0	1	0	17	34				
RP11-252A24.2	0	broad.mit.edu	37	16	74372701	74372701	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74372701C>A	ENST00000429810.2	-	0	1495																											ACCTGGCTCCCTGTGCATCCA	0.488																																						ENST00000429810.2																			0																																																			0							g.chr16:74372701C>A																													16.37:g.74372701C>A														0	1495	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.488	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			18	25	1	0	2.94398e-08	1	3.51695e-08	18	25				
SPEN	23013	broad.mit.edu	37	1	16254739	16254739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16254739C>T	ENST00000375759.3	+	11	2208	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	668	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGAGACTACTATGAATCAC	0.443																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2002-2004)taC>taT		spen family transcriptional repressor							137.0	132.0	134.0					1																	16254739		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16254739C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2004C>T	1.37:g.16254739C>T							p.Y668Y	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2208	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	668			Arg-rich.|Tyr-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.2004C>T	CCDS164.1																																																																																				0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	109	0	0	0	1	0	11	109				
MYL6	4637	broad.mit.edu	37	12	56555180	56555180	+	3'UTR	SNP	G	G	A	rs112034060		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56555180G>A	ENST00000550697.1	+	0	723				MYL6_ENST00000348108.4_3'UTR|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000293422.5_Missense_Mutation_p.R147H|MYL6_ENST00000547649.1_Missense_Mutation_p.R146H|MYL6_ENST00000549017.1_Missense_Mutation_p.R42H|MYL6_ENST00000549566.1_Missense_Mutation_p.R191H|MYL6_ENST00000548400.1_3'UTR|MYL6_ENST00000548580.1_Missense_Mutation_p.R98H	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGCTCGTCCGCATGGTGCTG	0.552																																						ENST00000549566.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(571-573)cGc>cAc		myosin, light chain 6, alkali, smooth muscle and non-muscle							217.0	172.0	187.0					12																	56555180		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56555180G>A	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.*26G>A	12.37:g.56555180G>A						MYL6_ENST00000548580.1_Missense_Mutation_p.R98H|MYL6_ENST00000348108.4_3'UTR|MYL6_ENST00000293422.5_Missense_Mutation_p.R147H|MYL6_ENST00000550697.1_3'UTR|MYL6_ENST00000548400.1_3'UTR|MYL6_ENST00000549017.1_Missense_Mutation_p.R42H|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Missense_Mutation_p.R146H	p.R191H			P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		4	616	+			146					P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.572G>A	CCDS8906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.49|19.49	3.837604|3.837604	0.71373|0.71373	.|.	.|.	ENSG00000092841|ENSG00000092841	ENST00000553056|ENST00000548580;ENST00000293422;ENST00000549017;ENST00000549566;ENST00000547649	.|T;T;T;T;T	.|0.80214	.|-0.56;-1.35;0.92;-1.35;-1.35	4.7|4.7	3.8|3.8	0.43715|0.43715	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69351|0.69351	0.3101|0.3101	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	.|P	.|0.37731	.|0.607	.|B	.|0.28139	.|0.086	T|T	0.72693|0.72693	-0.4216|-0.4216	6|10	0.62326|0.66056	D|D	0.03|0.02	.|.	6.5028|6.5028	0.22178|0.22178	0.1706:0.0:0.8294:0.0|0.1706:0.0:0.8294:0.0	.|.	.|146	.|P60660-2	.|.	T|H	133|98;147;42;191;146	.|ENSP00000446640:R98H;ENSP00000293422:R147H;ENSP00000449086:R42H;ENSP00000446709:R191H;ENSP00000446714:R146H	ENSP00000446627:A133T|ENSP00000293422:R147H	A|R	+|+	1|2	0|0	MYL6|MYL6	54841447|54841447	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.995000|0.995000	0.86356|0.86356	5.353000|5.353000	0.66034|0.66034	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.552	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			28	51	0	0	0	1	0	28	51				
SMARCA4	6597	broad.mit.edu	37	19	11107011	11107011	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11107011G>T	ENST00000429416.3	+	11	1997	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	SMARCA4_ENST00000413806.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K572N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000358026.2_Missense_Mutation_p.K572N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K572N	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	572					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAGCACAAGGCTGCCCAGG	0.597			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Unknown(3)	p.?(3)	lung(2)|prostate(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1714-1716)aaG>aaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							88.0	81.0	83.0					19																	11107011		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11107011G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1716G>T	19.37:g.11107011G>T	ENSP00000395654:p.Lys572Asn					SMARCA4_ENST00000590574.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K572N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K572N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K572N	p.K572N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			10	2000	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	572					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1716G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656781	0.67586	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.96	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	M	0.70595	2.14	0.44927	D	0.99794	D;D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.996;0.987;0.999;0.999	D;D;D;D;P;D;D	0.70935	0.937;0.937;0.937;0.954;0.893;0.971;0.971	T	0.61417	-0.7067	10	0.87932	D	0	-43.4266	9.0227	0.36209	0.1857:0.0:0.8143:0.0	.	572;572;572;572;572;572;572	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	N	572;572;636;572;572;572;572;572	ENSP00000395654:K572N;ENSP00000350720:K572N;ENSP00000343896:K572N;ENSP00000445036:K572N;ENSP00000392837:K572N;ENSP00000397783:K572N;ENSP00000414727:K572N	ENSP00000343896:K572N	K	+	3	2	SMARCA4	10968011	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.359000	0.34113	1.172000	0.42781	0.655000	0.94253	AAG		0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		5	73	1	0	1	1	1	5	73				
FKTN	2218	broad.mit.edu	37	9	108382276	108382276	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108382276T>A	ENST00000223528.2	+	9	1230	c.1106T>A	c.(1105-1107)tTc>tAc	p.F369Y	FKTN_ENST00000448551.2_Missense_Mutation_p.F369Y|FKTN_ENST00000602661.1_Missense_Mutation_p.F369Y|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000357998.5_Missense_Mutation_p.F369Y	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	369					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GATGTTTTTTTCTTCTATGAA	0.353																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1105-1107)tTc>tAc		fukutin							69.0	70.0	70.0					9																	108382276		2203	4299	6502	SO:0001583	missense	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108382276T>A		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1106T>A	9.37:g.108382276T>A	ENSP00000223528:p.Phe369Tyr					FKTN_ENST00000540160.1_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.F369Y|FKTN_ENST00000448551.2_Missense_Mutation_p.F369Y|FKTN_ENST00000357998.5_Missense_Mutation_p.F369Y	p.F369Y	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			9	1230	+			369					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	c.1106T>A	CCDS6766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.3|29.3	4.994790|4.994790	0.93167|0.93167	.|.	.|.	ENSG00000106692|ENSG00000106692	ENST00000223528;ENST00000357998|ENST00000457847	D;D|.	0.92299|.	-2.67;-3.01|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78355|0.78355	0.4270|0.4270	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.79926|0.79926	-0.1597|-0.1597	10|5	0.44086|.	T|.	0.13|.	-11.4527|-11.4527	15.8218|15.8218	0.78654|0.78654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	369;369|.	B4DUX9;O75072|.	.;FKTN_HUMAN|.	Y|T	369|66	ENSP00000223528:F369Y;ENSP00000350687:F369Y|.	ENSP00000223528:F369Y|.	F|S	+|+	2|1	0|0	FKTN|FKTN	107422097|107422097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.138000|7.138000	0.77305|0.77305	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.353	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		8	36	0	0	0	1	0	8	36				
ARHGAP29	9411	broad.mit.edu	37	1	94640257	94640257	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94640257T>G	ENST00000260526.6	-	23	3136	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	985					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTTCTATCTTTTGGGATGC	0.398																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2953-2955)aAg>aCg		Rho GTPase activating protein 29							115.0	114.0	114.0					1																	94640257		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94640257T>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2954A>C	1.37:g.94640257T>G	ENSP00000260526:p.Lys985Thr						p.K985T	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3136	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	985					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.2954A>C	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068478	0.36470	.	.	ENSG00000137962	ENST00000260526	T	0.22539	1.95	5.16	2.63	0.31362	.	0.000000	0.40385	N	0.001103	T	0.04634	0.0126	L	0.36672	1.1	0.09310	N	1	B	0.26744	0.158	B	0.17433	0.018	T	0.36114	-0.9761	10	0.19590	T	0.45	-24.5925	8.1789	0.31298	0.1176:0.0:0.2023:0.6801	.	985	Q52LW3	RHG29_HUMAN	T	985	ENSP00000260526:K985T	ENSP00000260526:K985T	K	-	2	0	ARHGAP29	94412845	0.002000	0.14202	0.009000	0.14445	0.564000	0.35744	0.617000	0.24359	1.034000	0.39945	0.482000	0.46254	AAG		0.398	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		62	144	0	0	0	1	0	62	144				
FERMT1	55612	broad.mit.edu	37	20	6068529	6068529	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6068529G>A	ENST00000217289.4	-	11	2054	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	FERMT1_ENST00000536936.1_Splice_Site_p.G165G|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	422	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAACTTCGCAGCCTGAAGGAC	0.398																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.e11-1		fermitin family member 1							123.0	114.0	117.0					20																	6068529		2203	4300	6503	SO:0001630	splice_region_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6068529G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1265-1C>T	20.37:g.6068529G>A						FERMT1_ENST00000536936.1_Splice_Site_p.G165_splice|FERMT1_ENST00000478194.1_5'UTR	p.G422_splice	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			11	2054	-			422			FERM.|PH.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	ENST00000217289.4	37	c.1264_splice	CCDS13098.1																																																																																				0.398	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	Silent	33	56	0	0	0	1	0	33	56				
TNMD	64102	broad.mit.edu	37	X	99848938	99848938	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99848938A>G	ENST00000373031.4	+	3	444	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	76					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAGAAGAAGAAGATTTACATG	0.408																																						ENST00000373031.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						c.(226-228)aAg>aGg		tenomodulin							131.0	116.0	121.0					X																	99848938		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99848938A>G	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.227A>G	X.37:g.99848938A>G	ENSP00000362122:p.Lys76Arg					TNMD_ENST00000485971.1_3'UTR	p.K76R	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN			3	444	+			76					Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.227A>G	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197537	0.79015	.	.	ENSG00000000005	ENST00000373031	T	0.30981	1.51	5.96	5.96	0.96718	.	0.110224	0.64402	D	0.000007	T	0.18882	0.0453	N	0.24115	0.695	0.32970	D	0.522206	P	0.43477	0.808	B	0.33196	0.159	T	0.34354	-0.9832	10	0.72032	D	0.01	-5.6976	11.3728	0.49711	0.851:0.149:0.0:0.0	.	76	Q9H2S6	TNMD_HUMAN	R	76	ENSP00000362122:K76R	ENSP00000362122:K76R	K	+	2	0	TNMD	99735594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.680000	0.61656	2.014000	0.59158	0.481000	0.45027	AAG		0.408	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		28	65	0	0	0	1	0	28	65				
TDRD9	122402	broad.mit.edu	37	14	104492412	104492412	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104492412C>A	ENST00000409874.4	+	27	3008	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.S987Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	987	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGCAATAAGTCTCATGTAGAT	0.393																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2959-2961)tCt>tAt		tudor domain containing 9							160.0	155.0	157.0					14																	104492412		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104492412C>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2960C>A	14.37:g.104492412C>A	ENSP00000387303:p.Ser987Tyr					TDRD9_ENST00000339063.5_Missense_Mutation_p.S987Y	p.S987Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			27	3008	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	987			Tudor.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2960C>A	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537508	0.65085	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.10099	2.91;2.91	5.05	5.05	0.67936	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.516357	0.18963	N	0.126323	T	0.26738	0.0654	L	0.52364	1.645	0.20926	N	0.999825	D;D	0.61080	0.989;0.976	P;P	0.60789	0.814;0.879	T	0.02632	-1.1131	10	0.87932	D	0	.	18.006	0.89209	0.0:1.0:0.0:0.0	.	987;987	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	Y	987	ENSP00000387303:S987Y;ENSP00000343545:S987Y	ENSP00000343545:S987Y	S	+	2	0	TDRD9	103562165	0.003000	0.15002	0.006000	0.13384	0.912000	0.54170	1.851000	0.39338	2.347000	0.79759	0.563000	0.77884	TCT		0.393	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		16	40	1	0	2.4624e-09	1	2.98951e-09	16	40				
ZNF507	22847	broad.mit.edu	37	19	32844567	32844567	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844567C>A	ENST00000311921.4	+	2	1023	c.831C>A	c.(829-831)tcC>tcA	p.S277S	ZNF507_ENST00000544431.1_Silent_p.S277S|ZNF507_ENST00000355898.5_Silent_p.S277S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGATTGCTCCTATCCAATCT	0.478																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(829-831)tcC>tcA		zinc finger protein 507							95.0	98.0	97.0					19																	32844567		2203	4300	6503	SO:0001819	synonymous_variant	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844567C>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.831C>A	19.37:g.32844567C>A						ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Silent_p.S277S|ZNF507_ENST00000544431.1_Silent_p.S277S	p.S277S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1023	+	Esophageal squamous(110;0.162)		277					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	ENST00000311921.4	37	c.831C>A	CCDS32985.1																																																																																				0.478	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		6	90	1	0	3.59834e-05	1	4.01776e-05	6	90				
ADAMTSL1	92949	broad.mit.edu	37	9	18680537	18680537	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18680537T>C	ENST00000380548.4	+	11	1680				ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.V438A|ADAMTSL1_ENST00000327883.7_Intron	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTTTCTTTGTTCATTAGGAG	0.527																																						ENST00000380566.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1312-1314)gTt>gCt		ADAMTS-like 1							94.0	89.0	91.0					9																	18680537		2203	4300	6503	SO:0001627	intron_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18680537T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1341+23T>C	9.37:g.18680537T>C						ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000380548.4_Intron	p.V438A			Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	10	1377	+			1625			TSP type-1 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1313T>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010635	0.54361	.	.	ENSG00000178031	ENST00000380566	T	0.63255	-0.03	6.17	5.04	0.67666	.	.	.	.	.	T	0.46889	0.1416	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.15870	0.014	T	0.33163	-0.9879	7	.	.	.	.	10.0826	0.42399	0.0:0.0746:0.0:0.9254	.	438	Q8N6G6-2	.	A	438	ENSP00000369940:V438A	.	V	+	2	0	ADAMTSL1	18670537	.	.	1.000000	0.80357	0.998000	0.95712	.	.	1.165000	0.42670	0.533000	0.62120	GTT		0.527	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			15	33	0	0	0	1	0	15	33				
WNT8B	7479	broad.mit.edu	37	10	102242454	102242454	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102242454T>G	ENST00000343737.5	+	6	1065	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	313					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAACTGCAAGTTCCACTGGTG	0.726											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(937-939)Ttc>Gtc		wingless-type MMTV integration site family, member 8B							10.0	12.0	11.0					10																	102242454		2100	4148	6248	SO:0001583	missense	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102242454T>G	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.937T>G	10.37:g.102242454T>G	ENSP00000340677:p.Phe313Val		OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.F313V	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	6	1065	+		Colorectal(252;0.117)	313					O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	c.937T>G	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	T	31	5.062541	0.93898	.	.	ENSG00000075290	ENST00000343737	D	0.81659	-1.52	5.41	5.41	0.78517	.	0.091563	0.85682	D	0.000000	D	0.90473	0.7016	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92078	0.5670	10	0.87932	D	0	.	15.4234	0.75031	0.0:0.0:0.0:1.0	.	313	Q93098	WNT8B_HUMAN	V	313	ENSP00000340677:F313V	ENSP00000340677:F313V	F	+	1	0	WNT8B	102232444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.972000	0.88022	2.053000	0.61076	0.397000	0.26171	TTC		0.726	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		3	14	0	0	0	1	0	3	14				
CDCA7L	55536	broad.mit.edu	37	7	21946038	21946038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21946038G>A	ENST00000406877.3	-	6	1069	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.Q230*|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.Q218*	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	264					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGTGATCTGTCCCTCCGAG	0.542																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(790-792)Cag>Tag		cell division cycle associated 7-like							86.0	97.0	93.0					7																	21946038		2203	4300	6503	SO:0001587	stop_gained	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21946038G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.790C>T	7.37:g.21946038G>A	ENSP00000383986:p.Gln264*					CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.Q230*|CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.Q218*	p.Q264*	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			6	1069	-			264					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Nonsense_Mutation	SNP	ENST00000406877.3	37	c.790C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	39	7.686960	0.98434	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	.	.	.	5.82	4.93	0.64822	.	0.435567	0.26187	N	0.025828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.249	16.9119	0.86142	0.0:0.1281:0.8719:0.0	.	.	.	.	X	230;264;218	.	ENSP00000348523:Q230X	Q	-	1	0	CDCA7L	21912563	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	7.603000	0.82811	1.460000	0.47911	-0.175000	0.13238	CAG		0.542	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		44	145	0	0	0	1	0	44	145				
PDGFC	56034	broad.mit.edu	37	4	157688928	157688928	+	Silent	SNP	G	G	A	rs546776439	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:157688928G>A	ENST00000502773.1	-	5	1408	c.918C>T	c.(916-918)caC>caT	p.H306H	PDGFC_ENST00000541126.1_Silent_p.H143H|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Silent_p.H151H|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	306					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TACCTACCTCGTGGTATTTTT	0.383													G|||	4	0.000798722	0.0	0.0	5008	,	,		16522	0.0		0.0	False		,,,				2504	0.0041					ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(916-918)caC>caT		platelet derived growth factor C							90.0	87.0	88.0					4																	157688928		2203	4300	6503	SO:0001819	synonymous_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157688928G>A	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.918C>T	4.37:g.157688928G>A						PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Silent_p.H143H|PDGFC_ENST00000542208.1_Silent_p.H151H	p.H306H	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1408	-	all_hematologic(180;0.24)	Renal(120;0.0458)	306					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	c.918C>T	CCDS3795.1																																																																																				0.383	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			23	32	0	0	0	1	0	23	32				
EPB41L4B	54566	broad.mit.edu	37	9	111979388	111979388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111979388G>A	ENST00000374566.3	-	16	1964	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	483					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCAACCGGTCCGAGCTG	0.567																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1447-1449)Cgg>Tgg		erythrocyte membrane protein band 4.1 like 4B							74.0	75.0	74.0					9																	111979388		2140	4257	6397	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111979388G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1447C>T	9.37:g.111979388G>A	ENSP00000363694:p.Arg483Trp						p.R483W	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			16	1964	-			483					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1447C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659579	0.47467	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84223	-1.82	5.91	4.0	0.46444	.	0.000000	0.36972	N	0.002301	T	0.75882	0.3910	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	B	0.43575	0.424	T	0.77035	-0.2737	10	0.72032	D	0.01	.	11.4415	0.50100	0.0:0.0:0.6598:0.3402	.	483	Q9H329	E41LB_HUMAN	W	168;483	ENSP00000363694:R483W	ENSP00000262536:R168W	R	-	1	2	EPB41L4B	111019209	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	1.671000	0.37513	0.757000	0.33036	0.655000	0.94253	CGG		0.567	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		14	28	0	0	0	1	0	14	28				
MICU3	286097	broad.mit.edu	37	8	16963025	16963025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16963025C>T	ENST00000318063.5	+	11	1231	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	397						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										TATTCTTTTACGATATACAAA	0.308																																						ENST00000318063.5																			0											c.(1189-1191)Cga>Tga		mitochondrial calcium uptake family, member 3							61.0	63.0	63.0					8																	16963025		2202	4298	6500	SO:0001587	stop_gained	286097							g.chr8:16963025C>T	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1189C>T	8.37:g.16963025C>T	ENSP00000321455:p.Arg397*					MICU3_ENST00000519866.1_3'UTR	p.R397*	NM_181723.2	NP_859074.1					11	1231	+								Q8IYZ3	Nonsense_Mutation	SNP	ENST00000318063.5	37	c.1189C>T	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042110	0.75732	.	.	ENSG00000155970	ENST00000318063	.	.	.	4.99	1.86	0.25419	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3715	8.295	0.31980	0.3824:0.5338:0.0:0.0838	.	.	.	.	X	397	.	ENSP00000321455:R397X	R	+	1	2	EFHA2	17007396	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.429000	0.34903	0.706000	0.31912	0.650000	0.86243	CGA		0.308	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		15	19	0	0	0	1	0	15	19				
SERAC1	84947	broad.mit.edu	37	6	158569913	158569913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158569913C>T	ENST00000367104.3	-	5	470	c.339G>A	c.(337-339)ctG>ctA	p.L113L	SERAC1_ENST00000367102.2_Silent_p.L113L|SERAC1_ENST00000607000.1_Silent_p.L113L|SERAC1_ENST00000367101.1_Silent_p.L113L	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	113					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGGATTCCGCAGTATCTTGG	0.338																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(337-339)ctG>ctA		serine active site containing 1							160.0	127.0	139.0					6																	158569913		2203	4300	6503	SO:0001819	synonymous_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158569913C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.339G>A	6.37:g.158569913C>T						SERAC1_ENST00000607000.1_Silent_p.L113L|SERAC1_ENST00000367104.3_Silent_p.L113L|SERAC1_ENST00000367101.1_Silent_p.L113L	p.L113L			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	5	480	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	113					Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	c.339G>A	CCDS5255.1																																																																																				0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		9	30	0	0	0	1	0	9	30				
LIG4	3981	broad.mit.edu	37	13	108862336	108862336	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:108862336C>A	ENST00000356922.4	-	2	1553	c.1281G>T	c.(1279-1281)gaG>gaT	p.E427D	LIG4_ENST00000405925.1_Missense_Mutation_p.E427D|LIG4_ENST00000442234.1_Missense_Mutation_p.E427D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	427					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCATAATTCCCTCTTCTCTTT	0.363								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1279-1281)gaG>gaT	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							143.0	144.0	143.0					13																	108862336		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862336C>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1281G>T	13.37:g.108862336C>A	ENSP00000349393:p.Glu427Asp					LIG4_ENST00000442234.1_Missense_Mutation_p.E427D|LIG4_ENST00000405925.1_Missense_Mutation_p.E427D	p.E427D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1553	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		427					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1281G>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157824	0.38119	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.93763	-3.28;-3.28;-3.28	5.19	2.51	0.30379	DNA ligase, ATP-dependent, central (2);DNA ligase, ATP-dependent, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95688	0.8738	10	0.87932	D	0	.	7.9402	0.29955	0.0:0.5832:0.0:0.4168	.	427	P49917	DNLI4_HUMAN	D	427	ENSP00000385955:E427D;ENSP00000402030:E427D;ENSP00000349393:E427D	ENSP00000349393:E427D	E	-	3	2	LIG4	107660337	0.998000	0.40836	1.000000	0.80357	0.639000	0.38242	0.531000	0.23052	0.277000	0.22141	-0.149000	0.13747	GAG		0.363	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		19	173	1	0	3.57192e-18	1	4.65187e-18	19	173				
ADIRF	10974	broad.mit.edu	37	10	88728331	88728331	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88728331G>T	ENST00000372013.3	+	1	383	c.30G>T	c.(28-30)aaG>aaT	p.K10N	ADIRF-AS1_ENST00000418273.2_RNA|ADIRF-AS1_ENST00000609111.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.15_ENST00000609363.1_RNA|ADIRF-AS1_ENST00000440490.1_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor	10					cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											AGGACCTGAAGCAACAGGTGG	0.652																																						ENST00000372013.3																			0											c.(28-30)aaG>aaT		adipogenesis regulatory factor							47.0	41.0	43.0					10																	88728331		2203	4300	6503	SO:0001583	missense	10974							g.chr10:88728331G>T	BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"""adipose specific 2"", ""adipose most abundant gene transcript 2"", ""adipogenesis factor rich in obesity"""		"""chromosome 10 open reading frame 116"""	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.30G>T	10.37:g.88728331G>T	ENSP00000361083:p.Lys10Asn					MMRN2_ENST00000418273.1_Intron	p.K10N	NM_006829.2	NP_006820.1					1	383	+									Missense_Mutation	SNP	ENST00000372013.3	37	c.30G>T	CCDS7381.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214382	0.39102	.	.	ENSG00000148671	ENST00000372013;ENST00000416348;ENST00000372012	.	.	.	4.37	1.47	0.22746	.	0.000000	0.33753	U	0.004588	T	0.26412	0.0645	.	.	.	0.19575	N	0.999962	P	0.48016	0.904	B	0.41332	0.354	T	0.16394	-1.0404	8	0.87932	D	0	.	5.718	0.17970	0.3485:0.0:0.6515:0.0	.	10	Q15847	APM2_HUMAN	N	10	.	ENSP00000361082:K10N	K	+	3	2	C10orf116	88718311	0.812000	0.29077	0.045000	0.18777	0.871000	0.50021	0.512000	0.22755	0.306000	0.22856	0.561000	0.74099	AAG		0.652	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049194.1	NM_006829		12	9	1	0	1.08611e-07	1	1.2824e-07	12	9				
SLC4A3	6508	broad.mit.edu	37	2	220498005	220498005	+	Silent	SNP	C	C	T	rs149397338	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220498005C>T	ENST00000358055.3	+	10	1799	c.1287C>T	c.(1285-1287)aaC>aaT	p.N429N	SLC4A3_ENST00000373760.2_Silent_p.N429N|SLC4A3_ENST00000273063.6_Silent_p.N456N|SLC4A3_ENST00000317151.3_Silent_p.N429N|SLC4A3_ENST00000373762.3_Silent_p.N456N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	429					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATCCCAACGATGACAAGG	0.582													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19414	0.0		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(1285-1287)aaC>aaT		solute carrier family 4 (anion exchanger), member 3							112.0	98.0	103.0					2																	220498005		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220498005C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1287C>T	2.37:g.220498005C>T						SLC4A3_ENST00000373760.2_Silent_p.N429N|SLC4A3_ENST00000317151.3_Silent_p.N429N|SLC4A3_ENST00000273063.6_Silent_p.N456N|SLC4A3_ENST00000373762.3_Silent_p.N456N	p.N429N			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1799	+		Renal(207;0.0183)	429					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.1287C>T	CCDS2445.1																																																																																				0.582	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		27	44	0	0	0	1	0	27	44				
APMAP	57136	broad.mit.edu	37	20	24952138	24952138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24952138C>T	ENST00000217456.2	-	5	786	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Missense_Mutation_p.A166T	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	166					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										TATGCATCGGCCACAAAGAGA	0.433																																						ENST00000217456.2																			0											c.(496-498)Gcc>Acc		adipocyte plasma membrane associated protein							78.0	78.0	78.0					20																	24952138		2203	4300	6503	SO:0001583	missense	57136							g.chr20:24952138C>T	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.496G>A	20.37:g.24952138C>T	ENSP00000217456:p.Ala166Thr					APMAP_ENST00000447138.1_Missense_Mutation_p.A166T	p.A166T	NM_020531.2	NP_065392.1					5	786	-								A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	c.496G>A	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.079618|5.079618	0.94050|0.94050	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000217456;ENST00000447138|ENST00000451442	T;T|.	0.33438|.	1.41;1.41|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Six-bladed beta-propeller, TolB-like (1);|.	0.323500|.	0.36972|.	N|.	0.002307|.	D|.	0.86289|.	0.5897|.	H|H	0.94183|0.94183	3.505|3.505	0.51012|0.51012	D|D	0.999906|0.999906	P;B;P|.	0.43169|.	0.8;0.124;0.698|.	P;B;B|.	0.49999|.	0.628;0.074;0.424|.	D|.	0.89753|.	0.3941|.	10|.	0.72032|.	D|.	0.01|.	-2.781|-2.781	14.8269|14.8269	0.70120|0.70120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	166;150;166|.	Q9HDC9-2;A2A2F9;Q9HDC9|.	.;.;APMAP_HUMAN|.	T|X	166|150	ENSP00000217456:A166T;ENSP00000415373:A166T|.	ENSP00000217456:A166T|.	A|W	-|-	1|3	0|0	C20orf3|C20orf3	24900138|24900138	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	6.860000|6.860000	0.75473|0.75473	2.563000|2.563000	0.86464|0.86464	0.561000|0.561000	0.74099|0.74099	GCC|TGG		0.433	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		22	41	0	0	0	1	0	22	41				
NODAL	4838	broad.mit.edu	37	10	72195499	72195499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72195499G>T	ENST00000287139.3	-	2	433	c.434C>A	c.(433-435)aCc>aAc	p.T145N	AC022532.1_ENST00000420338.2_Missense_Mutation_p.G149V	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	145					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CAAGGAAAAGGTGACCTGGGA	0.557																																						ENST00000420338.2																			0											c.(445-447)gGt>gTt									70.0	60.0	63.0					10																	72195499		2203	4300	6503	SO:0001583	missense	0							g.chr10:72195499G>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.434C>A	10.37:g.72195499G>T	ENSP00000287139:p.Thr145Asn					NODAL_ENST00000287139.3_Missense_Mutation_p.T145N	p.G149V							1	915	+								Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.446G>T	CCDS7304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.02|14.02	2.411114|2.411114	0.42817|0.42817	.|.	.|.	ENSG00000197604|ENSG00000156574	ENST00000420338|ENST00000287139;ENST00000414871	.|D;D	.|0.85088	.|-1.94;-1.91	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Transforming growth factor-beta, N-terminal (1);	.|0.219782	.|0.47093	.|D	.|0.000249	D|D	0.84615|0.84615	0.5511|0.5511	M|M	0.67953|0.67953	2.075|2.075	0.30800|0.30800	N|N	0.740014|0.740014	.|B	.|0.24186	.|0.099	.|B	.|0.33890	.|0.172	T|T	0.81667|0.81667	-0.0829|-0.0829	6|10	0.87932|0.42905	D|T	0|0.14	.|.	11.6243|11.6243	0.51136|0.51136	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	.|145	.|Q96S42	.|NODAL_HUMAN	V|N	149|145;90	.|ENSP00000287139:T145N;ENSP00000394468:T90N	ENSP00000411125:G149V|ENSP00000287139:T145N	G|T	+|-	2|2	0|0	AC022532.1|NODAL	71865505|71865505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	1.160000|1.160000	0.31761|0.31761	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GGT|ACC		0.557	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		12	29	1	0	2.31682e-05	1	2.60394e-05	12	29				
ZNF326	284695	broad.mit.edu	37	1	90473240	90473240	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90473240A>C	ENST00000340281.4	+	5	689	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Missense_Mutation_p.E93D	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	182	Gly-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTTATCCTGAAAGTACGTTTG	0.478																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(544-546)gaA>gaC		zinc finger protein 326							77.0	79.0	78.0					1																	90473240		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90473240A>C	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.546A>C	1.37:g.90473240A>C	ENSP00000340796:p.Glu182Asp					ZNF326_ENST00000370447.2_Missense_Mutation_p.E93D|ZNF326_ENST00000455342.2_Intron	p.E182D	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	5	689	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	182			Gly-rich.		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.546A>C	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.668972	0.29604	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447	T;T	0.48201	0.85;0.82	5.84	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	L	0.29908	0.895	0.80722	D	1	B;B	0.26445	0.149;0.058	B;B	0.20384	0.029;0.017	T	0.05818	-1.0862	10	0.25751	T	0.34	-18.9066	8.3689	0.32404	0.7991:0.1324:0.0686:0.0	.	182;182	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	D	182;182;93	ENSP00000340796:E182D;ENSP00000359476:E93D	ENSP00000340796:E182D	E	+	3	2	ZNF326	90245828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.444000	0.52914	1.030000	0.39839	0.533000	0.62120	GAA		0.478	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		39	38	0	0	0	1	0	39	38				
OR2T11	127077	broad.mit.edu	37	1	248789941	248789941	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789941G>A	ENST00000330803.2	-	1	550	c.489C>T	c.(487-489)gtC>gtT	p.V163V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACAGTAAGGGACATTCATGG	0.512																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(487-489)gtC>gtT		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							54.0	61.0	59.0					1																	248789941		2049	4231	6280	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789941G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.489C>T	1.37:g.248789941G>A							p.V163V	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	550	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		163					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.489C>T	CCDS31122.1																																																																																				0.512	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		6	74	0	0	0	1	0	6	74				
AIFM1	9131	broad.mit.edu	37	X	129272657	129272657	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129272657A>G	ENST00000287295.3	-	9	1108	c.878T>C	c.(877-879)tTg>tCg	p.L293S	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000319908.3_Missense_Mutation_p.L289S|AIFM1_ENST00000535724.1_Missense_Mutation_p.L206S|AIFM1_ENST00000460436.2_5'Flank	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	293	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	AATCTTCTCCAAGCTTCTAAA	0.413																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(877-879)tTg>tCg		apoptosis-inducing factor, mitochondrion-associated, 1							103.0	92.0	96.0					X																	129272657		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129272657A>G	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.878T>C	X.37:g.129272657A>G	ENSP00000287295:p.Leu293Ser					AIFM1_ENST00000319908.3_Missense_Mutation_p.L289S|AIFM1_ENST00000535724.1_Missense_Mutation_p.L206S|AIFM1_ENST00000346424.2_Intron	p.L293S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			9	1108	-			293			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.878T>C	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281469	0.80692	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.52057	0.68;0.68;0.68	5.54	5.54	0.83059	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.068996	0.64402	D	0.000020	T	0.77935	0.4205	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.84888	0.0835	10	0.87932	D	0	-7.0186	13.2489	0.60039	1.0:0.0:0.0:0.0	.	293;289;293	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	S	289;206;293	ENSP00000315122:L289S;ENSP00000446113:L206S;ENSP00000287295:L293S	ENSP00000287295:L293S	L	-	2	0	AIFM1	129100338	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.604000	0.90877	1.844000	0.53588	0.486000	0.48141	TTG		0.413	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			3	80	0	0	0	1	0	3	80				
DNAH2	146754	broad.mit.edu	37	17	7643819	7643819	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7643819G>T	ENST00000572933.1	+	10	2918	c.1458G>T	c.(1456-1458)ccG>ccT	p.P486P	DNAH2_ENST00000082259.3_Silent_p.P568P|DNAH2_ENST00000570791.1_Silent_p.P568P|DNAH2_ENST00000389173.2_Silent_p.P486P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	486	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGACGTGCCGCACGGCGTGC	0.662																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1456-1458)ccG>ccT		dynein, axonemal, heavy chain 2							116.0	96.0	103.0					17																	7643819		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643819G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1458G>T	17.37:g.7643819G>T						DNAH2_ENST00000570791.1_Silent_p.P568P|DNAH2_ENST00000389173.2_Silent_p.P486P|DNAH2_ENST00000082259.3_Silent_p.P568P	p.P486P			Q9P225	DYH2_HUMAN			10	2918	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	486			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.1458G>T	CCDS32551.1																																																																																				0.662	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		35	87	1	0	6.97489e-18	1	9.07097e-18	35	87				
FHOD3	80206	broad.mit.edu	37	18	34310638	34310638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34310638G>T	ENST00000359247.4	+	16	2871	c.2871G>T	c.(2869-2871)gaG>gaT	p.E957D	FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1149D|FHOD3_ENST00000591635.1_Missense_Mutation_p.E170D|FHOD3_ENST00000445677.1_Missense_Mutation_p.E936D|FHOD3_ENST00000257209.4_Missense_Mutation_p.E974D	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	957	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGGCAAGAGATCATTGTTC	0.398																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2920-2922)gaG>gaT		formin homology 2 domain containing 3							124.0	114.0	118.0					18																	34310638		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34310638G>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2871G>T	18.37:g.34310638G>T	ENSP00000352186:p.Glu957Asp					FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.E957D|FHOD3_ENST00000591635.1_Missense_Mutation_p.E170D|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1149D|FHOD3_ENST00000445677.1_Missense_Mutation_p.E936D	p.E974D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			17	3044	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	957			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2922G>T		.	.	.	.	.	.	.	.	.	.	G	19.13	3.768347	0.69878	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.16897	2.31;2.31;2.31	5.6	3.48	0.39840	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.84082	2.675	0.58432	D	0.999996	D;D;P	0.76494	0.998;0.999;0.904	D;D;P	0.80764	0.99;0.994;0.754	T	0.38394	-0.9663	10	0.42905	T	0.14	.	11.9635	0.53021	0.1692:0.0:0.8308:0.0	.	936;957;974	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	D	974;957;936	ENSP00000257209:E974D;ENSP00000352186:E957D;ENSP00000411430:E936D	ENSP00000257209:E974D	E	+	3	2	FHOD3	32564636	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.029000	0.41098	1.364000	0.46038	0.557000	0.71058	GAG		0.398	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		28	88	1	0	1.36615e-20	1	1.79416e-20	28	88				
ZNF555	148254	broad.mit.edu	37	19	2853649	2853649	+	Missense_Mutation	SNP	C	C	T	rs200533660		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853649C>T	ENST00000334241.4	+	4	1724	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.T528M	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGTGAGAACGCACACTGTA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		24194	0.0		0.001	False		,,,				2504	0.0					ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(1585-1587)aCg>aTg		zinc finger protein 555							126.0	108.0	114.0					19																	2853649		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853649C>T	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1586C>T	19.37:g.2853649C>T	ENSP00000334853:p.Thr529Met					ZNF555_ENST00000591539.1_Missense_Mutation_p.T528M|AC006130.3_ENST00000589365.1_RNA	p.T529M	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1724	+			529					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1586C>T	CCDS12096.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.11	1.840263	0.32513	.	.	ENSG00000186300	ENST00000334241	T	0.13089	2.62	3.22	-1.85	0.07784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	L	0.52905	1.665	0.09310	N	0.999999	P;B	0.37466	0.596;0.091	B;B	0.28991	0.097;0.018	T	0.18116	-1.0347	9	0.51188	T	0.08	.	3.3516	0.07154	0.1873:0.353:0.0:0.4597	.	529;528	Q8NEP9;A8KA89	ZN555_HUMAN;.	M	529	ENSP00000334853:T529M	ENSP00000334853:T529M	T	+	2	0	ZNF555	2804649	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	-0.458000	0.06737	-0.405000	0.07599	0.561000	0.74099	ACG		0.418	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		33	46	0	0	0	1	0	33	46				
NAMPT	10135	broad.mit.edu	37	7	105893480	105893480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105893480G>T	ENST00000222553.3	-	10	1655	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	450					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCTCAAGGTCTCCTTTT	0.398																																						ENST00000222553.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1348-1350)Ctt>Att		nicotinamide phosphoribosyltransferase							97.0	94.0	95.0					7																	105893480		2203	4300	6503	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105893480G>T	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1348C>A	7.37:g.105893480G>T	ENSP00000222553:p.Leu450Ile						p.L450I	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN			10	1655	-			450					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.1348C>A	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238162	0.58886	.	.	ENSG00000105835	ENST00000222553	.	.	.	5.36	4.48	0.54585	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.061211	0.64402	D	0.000002	T	0.47116	0.1428	N	0.25647	0.755	0.80722	D	1	P	0.44521	0.837	P	0.48270	0.572	T	0.35076	-0.9803	9	0.27082	T	0.32	-3.0974	13.899	0.63790	0.0732:0.0:0.9268:0.0	.	450	P43490	NAMPT_HUMAN	I	450	.	ENSP00000222553:L450I	L	-	1	0	NAMPT	105680716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.106000	0.77039	1.396000	0.46663	0.655000	0.94253	CTT		0.398	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		26	103	1	0	8.24728e-16	1	1.06091e-15	26	103				
EFCAB5	374786	broad.mit.edu	37	17	28419932	28419932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28419932G>T	ENST00000394835.3	+	22	4491	c.4299G>T	c.(4297-4299)caG>caT	p.Q1433H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q1309H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1433							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTAATGTACAGCTTATTGATG	0.313																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(4297-4299)caG>caT		EF-hand calcium binding domain 5							117.0	106.0	110.0					17																	28419932		1843	4091	5934	SO:0001583	missense	374786						calcium ion binding	g.chr17:28419932G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4299G>T	17.37:g.28419932G>T	ENSP00000378312:p.Gln1433His					EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q1309H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	p.Q1433H	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			22	4491	+			1433					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4299G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529765	0.45073	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10099	2.91;2.91;2.92	5.79	1.8	0.24995	.	1.048210	0.07477	N	0.903132	T	0.14399	0.0348	L	0.44542	1.39	0.09310	N	1	P;P	0.48503	0.911;0.911	P;P	0.47941	0.562;0.562	T	0.28235	-1.0050	10	0.87932	D	0	0.0419	7.4969	0.27494	0.1443:0.0:0.6542:0.2014	.	1309;1433	E7EVS9;A4FU69	.;EFCB5_HUMAN	H	1433;1309;1115	ENSP00000378312:Q1433H;ENSP00000322003:Q1309H;ENSP00000417009:Q1115H	ENSP00000322003:Q1309H	Q	+	3	2	EFCAB5	25444058	0.965000	0.33210	0.225000	0.23894	0.020000	0.10135	0.835000	0.27531	1.450000	0.47717	0.655000	0.94253	CAG		0.313	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		12	82	1	0	1.52009e-12	1	1.91418e-12	12	82				
RABL6	55684	broad.mit.edu	37	9	139722960	139722960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139722960C>T	ENST00000311502.7	+	4	564	c.328C>T	c.(328-330)Cga>Tga	p.R110*	MIR4292_ENST00000585012.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371675.3_5'UTR|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Nonsense_Mutation_p.R110*|RABL6_ENST00000357466.2_Nonsense_Mutation_p.R110*|RABL6_ENST00000432842.2_Nonsense_Mutation_p.R72*|RABL6_ENST00000371663.4_Nonsense_Mutation_p.R110*			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	110	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ATGCAAAAAGCGAGGCGACGG	0.572																																						ENST00000371663.4																			0											c.(328-330)Cga>Tga		RAB, member RAS oncogene family-like 6							60.0	67.0	65.0					9																	139722960		1907	4117	6024	SO:0001587	stop_gained	55684							g.chr9:139722960C>T	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.328C>T	9.37:g.139722960C>T	ENSP00000311134:p.Arg110*					RABL6_ENST00000357466.2_Nonsense_Mutation_p.R110*|RABL6_ENST00000371671.4_Nonsense_Mutation_p.R110*|RABL6_ENST00000311502.7_Nonsense_Mutation_p.R110*|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Nonsense_Mutation_p.R72*|RABL6_ENST00000371675.3_5'UTR	p.R110*	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3					4	603	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Nonsense_Mutation	SNP	ENST00000311502.7	37	c.328C>T	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.040276|6.040276	0.97226|0.97226	.|.	.|.	ENSG00000196642|ENSG00000196642	ENST00000436380;ENST00000425121|ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842	.|.	.|.	.|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	.|0.194807	.|0.33023	.|N	.|0.005377	T|.	0.41166|.	0.1147|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30208|.	-0.9986|.	4|.	.|0.02654	.|T	.|1	-7.2539|-7.2539	14.1845|14.1845	0.65595|0.65595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	66;20|110;110;110;110;110;72	.|.	.|ENSP00000311134:R110X	A|R	+|+	2|1	0|2	C9orf86|C9orf86	138842781|138842781	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.964000|0.964000	0.63967|0.63967	4.992000|4.992000	0.63889|0.63889	2.103000|2.103000	0.63969|0.63969	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.572	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		16	20	0	0	0	1	0	16	20				
ATP10D	57205	broad.mit.edu	37	4	47593308	47593308	+	Missense_Mutation	SNP	C	C	A	rs536235043	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47593308C>A	ENST00000273859.3	+	23	4460	c.4191C>A	c.(4189-4191)aaC>aaA	p.N1397K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1397					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGCAAGGAAACTTATCTCTGT	0.463																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(4189-4191)aaC>aaA		ATPase, class V, type 10D							145.0	143.0	144.0					4																	47593308		2203	4299	6502	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47593308C>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.4191C>A	4.37:g.47593308C>A	ENSP00000273859:p.Asn1397Lys						p.N1397K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			23	4460	+			1397					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.4191C>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113260	0.37339	.	.	ENSG00000145246	ENST00000273859	T	0.37235	1.21	4.5	0.833	0.18875	.	1.242470	0.05398	N	0.540203	T	0.27594	0.0678	L	0.47716	1.5	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.24584	-1.0156	10	0.06365	T	0.9	-4.2036	6.5911	0.22647	0.0:0.5871:0.0:0.4129	.	1397	Q9P241	AT10D_HUMAN	K	1397	ENSP00000273859:N1397K	ENSP00000273859:N1397K	N	+	3	2	ATP10D	47288065	0.000000	0.05858	0.000000	0.03702	0.430000	0.31655	-0.583000	0.05807	-0.058000	0.13177	0.404000	0.27445	AAC		0.463	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		42	136	1	0	5.34276e-22	1	7.04553e-22	42	136				
LYST	1130	broad.mit.edu	37	1	235926125	235926125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235926125G>A	ENST00000389794.3	-	22	6322	c.6148C>T	c.(6148-6150)Cgg>Tgg	p.R2050W	LYST_ENST00000389793.2_Missense_Mutation_p.R2050W|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2050					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R2050W(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGATTGACCGCACTTTCTCC	0.373																																						ENST00000389794.3																			1	Substitution - Missense(1)	p.R2050W(1)	endometrium(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6148-6150)Cgg>Tgg		lysosomal trafficking regulator							86.0	73.0	77.0					1																	235926125		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235926125G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6148C>T	1.37:g.235926125G>A	ENSP00000374444:p.Arg2050Trp					LYST_ENST00000389793.2_Missense_Mutation_p.R2050W|LYST_ENST00000536965.1_3'UTR	p.R2050W			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		22	6322	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2050					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6148C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876505	0.51801	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61859	0.07;0.07	5.45	4.53	0.55603	.	0.499150	0.25109	N	0.033076	T	0.38692	0.1050	N	0.22421	0.69	0.80722	D	1	D	0.55385	0.971	B	0.36030	0.216	T	0.42965	-0.9420	10	0.87932	D	0	.	11.0242	0.47736	0.0:0.3015:0.5752:0.1233	.	2050	Q99698	LYST_HUMAN	W	2050	ENSP00000374444:R2050W;ENSP00000374443:R2050W	ENSP00000374443:R2050W	R	-	1	2	LYST	233992748	1.000000	0.71417	0.490000	0.27465	0.833000	0.47200	4.054000	0.57434	1.400000	0.46741	0.491000	0.48974	CGG		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			18	36	0	0	0	1	0	18	36				
APC	324	broad.mit.edu	37	5	112176148	112176148	+	Silent	SNP	A	A	G	rs564651232		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112176148A>G	ENST00000457016.1	+	16	5237	c.4857A>G	c.(4855-4857)ccA>ccG	p.P1619P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.P1619P|APC_ENST00000508376.2_Silent_p.P1619P			P25054	APC_HUMAN	adenomatous polyposis coli	1619	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACTTCTACCATCACAAAACA	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			A|||	1	0.000199681	0.0	0.0	5008	,	,		19877	0.001		0.0	False		,,,				2504	0.0				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4855-4857)ccA>ccG		adenomatous polyposis coli							132.0	135.0	134.0					5																	112176148		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176148A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4857A>G	5.37:g.112176148A>G		TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.P1619P|APC_ENST00000508376.2_Silent_p.P1619P	p.P1619P			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5237	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1619			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.4857A>G	CCDS4107.1																																																																																				0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		15	176	0	0	0	1	0	15	176				
CEACAM8	1088	broad.mit.edu	37	19	43097933	43097933	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43097933G>T	ENST00000244336.5	-	2	285	c.184C>A	c.(184-186)Cct>Act	p.P62T	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	62	Ig-like V-type.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TAGCCACGAGGGTCCTGGGGC	0.507																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(184-186)Cct>Act		carcinoembryonic antigen-related cell adhesion molecule 8							196.0	182.0	187.0					19																	43097933		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43097933G>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.184C>A	19.37:g.43097933G>T	ENSP00000244336:p.Pro62Thr					LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	p.P62T	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			2	285	-		Prostate(69;0.00899)	62			Ig-like V-type.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.184C>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	g	5.291	0.239109	0.10023	.	.	ENSG00000124469	ENST00000244336	T	0.64085	-0.08	1.87	-3.74	0.04385	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34250	0.0891	N	0.11673	0.155	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.08086	-1.0739	9	0.45353	T	0.12	.	2.3921	0.04380	0.1427:0.4735:0.2179:0.1658	.	62	P31997	CEAM8_HUMAN	T	62	ENSP00000244336:P62T	ENSP00000244336:P62T	P	-	1	0	CEACAM8	47789773	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-4.673000	0.00200	-1.781000	0.01277	0.313000	0.20887	CCT		0.507	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			56	81	1	0	8.52622e-23	1	1.12644e-22	56	81				
SNHG14	104472715	broad.mit.edu	37	15	25477562	25477562	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25477562C>A	ENST00000453082.2	+	0	1700				SNORD115-33_ENST00000363723.1_RNA|SNORD115-35_ENST00000365122.1_RNA|SNORD115-34_ENST00000362441.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTATAATGTTCTGAAGAGAGG	0.507																																						ENST00000453082.2																			0																				388.0	419.0	410.0					15																	25477562		876	1991	2867			0							g.chr15:25477562C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25477562C>A						SNORD115-34_ENST00000362441.1_RNA		NR_003343.1						0	1700	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.507	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			18	248	1	0	2.4624e-09	1	2.98951e-09	18	248				
EQTN	54586	broad.mit.edu	37	9	27284734	27284734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27284734G>A	ENST00000380032.3	-	8	955	c.872C>T	c.(871-873)tCg>tTg	p.S291L	LINC00032_ENST00000425633.1_lincRNA|EQTN_ENST00000537675.1_Missense_Mutation_p.S262L	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	291					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											CCGGGTAACCGACTCATCGTT	0.348																																						ENST00000380032.3																			0											c.(871-873)tCg>tTg		equatorin, sperm acrosome associated							114.0	105.0	108.0					9																	27284734		2203	4300	6503	SO:0001583	missense	54586							g.chr9:27284734G>A	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.872C>T	9.37:g.27284734G>A	ENSP00000369371:p.Ser291Leu					EQTN_ENST00000537675.1_Missense_Mutation_p.S262L	p.S291L	NM_020641.2	NP_065692.2					8	955	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	c.872C>T	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.469365	0.26423	.	.	ENSG00000120160	ENST00000537675;ENST00000380032	T;T	0.35421	1.31;1.69	3.74	1.86	0.25419	.	1.270110	0.05823	N	0.616162	T	0.18841	0.0452	N	0.08118	0	0.09310	N	1	B;B	0.29232	0.238;0.238	B;B	0.21151	0.018;0.033	T	0.22347	-1.0219	10	0.72032	D	0.01	.	5.2062	0.15293	0.1154:0.2113:0.6733:0.0	.	262;291	B7ZMK1;Q9NQ60	.;AFAF_HUMAN	L	262;291	ENSP00000441630:S262L;ENSP00000369371:S291L	ENSP00000369371:S291L	S	-	2	0	C9orf11	27274734	0.001000	0.12720	0.009000	0.14445	0.030000	0.12068	0.412000	0.21131	0.576000	0.29452	0.530000	0.56133	TCG		0.348	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		7	62	0	0	0	1	0	7	62				
CTC1	80169	broad.mit.edu	37	17	8136314	8136314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8136314C>A	ENST00000315684.8	-	11	1862	c.1855G>T	c.(1855-1857)Ggt>Tgt	p.G619C		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	619					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGCAGACAACCTTTATGAGAT	0.473																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1855-1857)Ggt>Tgt		CTS telomere maintenance complex component 1							142.0	145.0	144.0					17																	8136314		1966	4165	6131	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8136314C>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1855G>T	17.37:g.8136314C>A	ENSP00000313759:p.Gly619Cys						p.G619C	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			11	1862	-			619					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1855G>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164070	0.57476	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.85171	-1.95;-1.95	5.9	4.93	0.64822	.	0.277703	0.37304	N	0.002149	D	0.90758	0.7099	M	0.73598	2.24	0.40952	D	0.984551	D	0.76494	0.999	D	0.69479	0.964	D	0.91715	0.5384	10	0.72032	D	0.01	-4.9028	11.3427	0.49541	0.0:0.9162:0.0:0.0838	.	619	Q2NKJ3	CTC1_HUMAN	C	619;584	ENSP00000313759:G619C;ENSP00000396018:G584C	ENSP00000313759:G619C	G	-	1	0	CTC1	8077039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.597000	0.36729	1.511000	0.48818	0.651000	0.88453	GGT		0.473	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		6	114	1	0	0.0215528	1	0.0221649	6	114				
NHS	4810	broad.mit.edu	37	X	17744597	17744597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17744597G>A	ENST00000380060.3	+	6	2646	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	NHS_ENST00000398097.3_Missense_Mutation_p.D614N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	791					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CATGCACTTTGACTGTGGTCT	0.493																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(2308-2310)Gac>Aac		Nance-Horan syndrome (congenital cataracts and dental anomalies)							104.0	101.0	102.0					X																	17744597		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17744597G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2308G>A	X.37:g.17744597G>A	ENSP00000369400:p.Asp770Asn					NHS_ENST00000398097.3_Missense_Mutation_p.D614N	p.D770N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2646	+	Hepatocellular(33;0.183)		770					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2308G>A	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084054	0.76642	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.59772	0.25;0.24	5.94	5.94	0.96194	.	0.043573	0.85682	D	0.000000	T	0.78240	0.4252	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.87578	0.984;0.984;0.984;0.998	T	0.79077	-0.1951	10	0.56958	D	0.05	-22.4941	19.3108	0.94187	0.0:0.0:1.0:0.0	.	791;612;614;770	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	N	770;614;612	ENSP00000369400:D770N;ENSP00000381170:D614N	ENSP00000369397:D612N	D	+	1	0	NHS	17654518	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.513000	0.84729	0.544000	0.68410	GAC		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		17	137	0	0	0	1	0	17	137				
KDM1B	221656	broad.mit.edu	37	6	18215283	18215283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18215283G>A	ENST00000297792.5	+	16	1636	c.1459G>A	c.(1459-1461)Gca>Aca	p.A487T	KDM1B_ENST00000397244.1_Missense_Mutation_p.A488T|KDM1B_ENST00000388870.2_Missense_Mutation_p.A720T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A10T			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	719					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGAGGCTGTCGCATCCGTGAG	0.572																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2158-2160)Gca>Aca		lysine (K)-specific demethylase 1B							78.0	72.0	74.0					6																	18215283		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18215283G>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1459G>A	6.37:g.18215283G>A	ENSP00000297792:p.Ala487Thr					KDM1B_ENST00000397244.1_Missense_Mutation_p.A488T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A10T|KDM1B_ENST00000297792.5_Missense_Mutation_p.A487T	p.A720T			Q8NB78	KDM1B_HUMAN			20	2399	+			719					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.2158G>A	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	3.904	-0.021514	0.07634	.	.	ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.99	5.12	0.69794	Amine oxidase (1);	0.299975	0.36555	N	0.002532	T	0.69949	0.3168	N	0.13198	0.31	0.24944	N	0.991833	B;B;B	0.16802	0.004;0.006;0.019	B;B;B	0.16722	0.005;0.004;0.016	T	0.56739	-0.7929	10	0.15499	T	0.54	-10.5835	9.2308	0.37437	0.2274:0.0:0.7726:0.0	.	536;719;487	A2A2C4;Q8NB78;A2A2C6	.;KDM1B_HUMAN;.	T	10;720;488;487;717	ENSP00000442670:A10T;ENSP00000373522:A720T;ENSP00000380419:A488T;ENSP00000297792:A487T	ENSP00000297792:A487T	A	+	1	0	KDM1B	18323262	0.680000	0.27605	0.380000	0.26093	0.157000	0.22087	1.149000	0.31626	1.532000	0.49169	0.650000	0.86243	GCA		0.572	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		15	30	0	0	0	1	0	15	30				
KAZN	23254	broad.mit.edu	37	1	15361333	15361333	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15361333C>T	ENST00000376030.2	+	3	801	c.507C>T	c.(505-507)cgC>cgT	p.R169R	KAZN_ENST00000361144.5_Silent_p.R163R|KAZN_ENST00000400797.3_Silent_p.R75R|KAZN_ENST00000503743.1_Silent_p.R169R|KAZN_ENST00000422387.2_Silent_p.R169R|KAZN_ENST00000400798.2_Silent_p.R75R	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	169					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGGAGAGCCGCGAGGAGCAGC	0.617																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(505-507)cgC>cgT		kazrin, periplakin interacting protein							92.0	87.0	89.0					1																	15361333		2203	4300	6503	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15361333C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.507C>T	1.37:g.15361333C>T						KAZN_ENST00000503743.1_Silent_p.R169R|KAZN_ENST00000400797.3_Silent_p.R75R|KAZN_ENST00000361144.5_Silent_p.R163R|KAZN_ENST00000422387.2_Silent_p.R169R|KAZN_ENST00000400798.2_Silent_p.R75R	p.R169R	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			3	801	+			169					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.507C>T	CCDS152.2																																																																																				0.617	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		18	53	0	0	0	1	0	18	53				
ZNF644	84146	broad.mit.edu	37	1	91406643	91406643	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91406643C>A	ENST00000370440.1	-	3	485	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	ZNF644_ENST00000337393.5_Missense_Mutation_p.G90C|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTAGACTGGCCTCCACTTAAG	0.393																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(268-270)Ggc>Tgc		zinc finger protein 644							131.0	127.0	128.0					1																	91406643		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406643C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.268G>T	1.37:g.91406643C>A	ENSP00000359469:p.Gly90Cys					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G90C	p.G90C			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	485	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	90					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.268G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809752	0.50421	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00601	6.29;6.29	5.91	5.91	0.95273	.	0.304822	0.32624	N	0.005857	T	0.00608	0.0020	L	0.27053	0.805	0.44780	D	0.997781	D	0.71674	0.998	P	0.57371	0.819	D	0.85892	0.1429	10	0.48119	T	0.1	0.0611	14.4499	0.67376	0.0:0.9301:0.0:0.0699	.	90	Q9H582	ZN644_HUMAN	C	90	ENSP00000359469:G90C;ENSP00000337008:G90C	ENSP00000337008:G90C	G	-	1	0	ZNF644	91179231	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.601000	0.54059	2.802000	0.96397	0.655000	0.94253	GGC		0.393	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		21	112	1	0	1.96292e-10	1	2.41709e-10	21	112				
EPHA7	2045	broad.mit.edu	37	6	94120584	94120584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120584G>A	ENST00000369303.4	-	3	651	c.467C>T	c.(466-468)aCc>aTc	p.T156I	EPHA7_ENST00000369297.1_Missense_Mutation_p.T156I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	156	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCACCTTGGGTAAAACTTTC	0.373																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(466-468)aCc>aTc		EPH receptor A7							134.0	135.0	135.0					6																	94120584		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120584G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.467C>T	6.37:g.94120584G>A	ENSP00000358309:p.Thr156Ile					EPHA7_ENST00000369297.1_Missense_Mutation_p.T156I	p.T156I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	651	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	156					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.467C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435057	0.83885	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.03920	3.76;3.76	5.47	5.47	0.80525	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.97110	0.986;0.998;0.999;1.0	T	0.07177	-1.0786	10	0.87932	D	0	.	19.7457	0.96251	0.0:0.0:1.0:0.0	.	156;156;156;156	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	I	156	ENSP00000358309:T156I;ENSP00000358303:T156I	ENSP00000358303:T156I	T	-	2	0	EPHA7	94177305	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.745000	0.94114	0.650000	0.86243	ACC		0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			40	67	0	0	0	1	0	40	67				
RQCD1	9125	broad.mit.edu	37	2	219457400	219457400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219457400G>A	ENST00000273064.6	+	7	1076	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RQCD1_ENST00000295701.5_Missense_Mutation_p.R234K|RQCD1_ENST00000542068.1_Missense_Mutation_p.R234K|RQCD1_ENST00000509807.2_Missense_Mutation_p.R266K	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	234					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGTAGTGAGATGTTACCTT	0.443																																						ENST00000273064.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(700-702)aGa>aAa		RCD1 required for cell differentiation1 homolog (S. pombe)							134.0	134.0	134.0					2																	219457400		2203	4300	6503	SO:0001583	missense	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219457400G>A	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.701G>A	2.37:g.219457400G>A	ENSP00000273064:p.Arg234Lys					RQCD1_ENST00000295701.5_Missense_Mutation_p.R234K|RQCD1_ENST00000542068.1_Missense_Mutation_p.R234K|RQCD1_ENST00000509807.2_Missense_Mutation_p.R266K	p.R234K	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1076	+		Renal(207;0.0915)	234					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	c.701G>A	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433242	0.96150	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701;ENST00000418808	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	H	0.95539	3.685	0.80722	D	1	D;D;D	0.62365	0.974;0.991;0.991	D;D;D	0.65140	0.932;0.923;0.923	D	0.84050	0.0369	10	0.66056	D	0.02	-4.7	19.4568	0.94895	0.0:0.0:1.0:0.0	.	266;234;234	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	K	234;266;234;234;50	ENSP00000273064:R234K;ENSP00000441357:R266K;ENSP00000443687:R234K;ENSP00000295701:R234K;ENSP00000396938:R50K	ENSP00000273064:R234K	R	+	2	0	RQCD1	219165644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.832000	0.97577	0.655000	0.94253	AGA		0.443	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		51	63	0	0	0	1	0	51	63				
IL5RA	3568	broad.mit.edu	37	3	3118281	3118281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3118281C>A	ENST00000446632.2	-	10	1599	c.1025G>T	c.(1024-1026)tGg>tTg	p.W342L	IL5RA_ENST00000445864.2_Missense_Mutation_p.W133L|IL5RA_ENST00000256452.3_Missense_Mutation_p.W342L|IL5RA_ENST00000438560.1_Missense_Mutation_p.W342L|IL5RA_ENST00000418488.2_Missense_Mutation_p.W247L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	342					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AATGACAAACCACTCTCTCAA	0.363																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(1024-1026)tGg>tTg		interleukin 5 receptor, alpha							111.0	97.0	102.0					3																	3118281		2203	4300	6503	SO:0001583	missense	0				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3118281C>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.1025G>T	3.37:g.3118281C>A	ENSP00000412209:p.Trp342Leu					IL5RA_ENST00000256452.3_Missense_Mutation_p.W342L|IL5RA_ENST00000445864.2_Missense_Mutation_p.W133L|IL5RA_ENST00000418488.2_Missense_Mutation_p.W247L|IL5RA_ENST00000438560.1_Missense_Mutation_p.W342L	p.W342L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	10	1599	-			342					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.1025G>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780698	0.49891	.	.	ENSG00000091181	ENST00000446632;ENST00000353055;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864	D;D;D;T;T	0.95622	-3.76;-3.76;-3.76;1.02;1.17	4.94	4.03	0.46877	.	0.541335	0.16432	N	0.214666	D	0.97170	0.9075	M	0.87827	2.91	0.21220	N	0.99975	D;P;D;D;D	0.76494	0.999;0.919;0.998;0.987;0.993	D;P;D;P;D	0.64776	0.921;0.534;0.929;0.755;0.91	D	0.91743	0.5406	10	0.44086	T	0.13	-4.7408	8.2737	0.31860	0.0:0.8815:0.0:0.1185	.	342;342;133;247;43	B4E2G0;Q01344;B3IU77;E7ERY4;Q14632	.;IL5RA_HUMAN;.;.;.	L	342;53;342;342;247;133	ENSP00000412209:W342L;ENSP00000390753:W342L;ENSP00000256452:W342L;ENSP00000388858:W247L;ENSP00000402598:W133L	ENSP00000256452:W342L	W	-	2	0	IL5RA	3093281	0.949000	0.32298	0.080000	0.20451	0.009000	0.06853	1.883000	0.39658	1.134000	0.42165	0.655000	0.94253	TGG		0.363	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			5	52	1	0	0.00116845	1	0.00124821	5	52				
NTRK3	4916	broad.mit.edu	37	15	88472533	88472533	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88472533G>T	ENST00000360948.2	-	16	2183	c.2022C>A	c.(2020-2022)caC>caA	p.H674Q	NTRK3_ENST00000557856.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.H666Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.H576Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.H674Q|NTRK3_ENST00000394480.2_Missense_Mutation_p.H674Q	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	674	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTGCACAAAGTGCTGGGAGG	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(2020-2022)caC>caA		neurotrophic tyrosine kinase, receptor, type 3							92.0	82.0	86.0					15																	88472533		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472533G>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2022C>A	15.37:g.88472533G>T	ENSP00000354207:p.His674Gln	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.H576Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.H666Q|NTRK3_ENST00000360948.2_Missense_Mutation_p.H674Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.H674Q	p.H674Q	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		17	2343	-			674			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2022C>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748577	0.69533	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.16	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	L	0.41906	1.305	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.985;0.985;0.995;0.975;0.995	D	0.89875	0.4026	10	0.87932	D	0	.	9.5844	0.39508	0.2532:0.0:0.7468:0.0	.	576;666;666;674;674	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	Q	674;674;666;674;576	ENSP00000377990:H674Q;ENSP00000354207:H674Q;ENSP00000350356:H666Q;ENSP00000347397:H674Q;ENSP00000437773:H576Q	ENSP00000347397:H674Q	H	-	3	2	NTRK3	86273537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.393000	0.52544	1.181000	0.42912	0.655000	0.94253	CAC		0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				7	49	1	0	8.12818e-05	1	8.99451e-05	7	49				
RCAN1	1827	broad.mit.edu	37	21	35890511	35890511	+	Silent	SNP	G	G	A	rs199533956		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35890511G>A	ENST00000313806.4	-	4	760	c.630C>T	c.(628-630)agC>agT	p.S210S	RCAN1_ENST00000381132.2_Silent_p.S155S|RCAN1_ENST00000481448.1_Silent_p.S200S|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_Silent_p.S75S|RCAN1_ENST00000381135.3_Silent_p.S200S|RCAN1_ENST00000399272.1_Silent_p.S129S|RCAN1_ENST00000482533.1_Silent_p.S75S|RCAN1_ENST00000443408.2_Silent_p.S75S	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	210					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGACCACCACGCTGGGAGTGG	0.488																																						ENST00000481448.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(598-600)agC>agT		regulator of calcineurin 1							102.0	93.0	96.0					21																	35890511		2203	4300	6503	SO:0001819	synonymous_variant	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35890511G>A		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.630C>T	21.37:g.35890511G>A						RCAN1_ENST00000381132.2_Silent_p.S155S|RCAN1_ENST00000443408.2_Silent_p.S75S|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000313806.4_Silent_p.S210S|RCAN1_ENST00000399272.1_Silent_p.S129S|RCAN1_ENST00000487990.1_Silent_p.S75S|RCAN1_ENST00000482533.1_Silent_p.S75S|RCAN1_ENST00000381135.3_Silent_p.S200S	p.S200S			P53805	RCAN1_HUMAN			5	1086	-			210					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	ENST00000313806.4	37	c.600C>T	CCDS13637.1																																																																																				0.488	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			21	37	0	0	0	1	0	21	37				
KCNA5	3741	broad.mit.edu	37	12	5154306	5154306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154306C>T	ENST00000252321.3	+	1	1222	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	331					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGACCACGTGCGTCATCTGGT	0.647																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(991-993)tgC>tgT		potassium voltage-gated channel, shaker-related subfamily, member 5							88.0	79.0	82.0					12																	5154306		2203	4300	6503	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154306C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.993C>T	12.37:g.5154306C>T							p.C331C	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1222	+			331					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.993C>T	CCDS8536.1																																																																																				0.647	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		4	60	0	0	0	1	0	4	60				
ABLIM2	84448	broad.mit.edu	37	4	7994606	7994606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7994606C>T	ENST00000341937.5	-	16	1629	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000514025.1_Missense_Mutation_p.G257D|ABLIM2_ENST00000447017.2_Missense_Mutation_p.G556D|ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000318888.4_Missense_Mutation_p.G257D|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.G470D	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	522					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTGGTCCAAGCCATTCTTTCC	0.552																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(769-771)gGc>gAc		actin binding LIM protein family, member 2							56.0	55.0	55.0					4																	7994606		1568	3582	5150	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:7994606C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1565G>A	4.37:g.7994606C>T	ENSP00000342813:p.Gly522Asp					ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.G470D|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.G522D|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.G556D|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000514025.1_Missense_Mutation_p.G257D|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000296372.8_Intron	p.G257D			Q6H8Q1	ABLM2_HUMAN			16	1641	-			522			LIM zinc-binding 4.		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.770G>A	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	c	18.58	3.655554	0.67586	.	.	ENSG00000163995	ENST00000400045;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000505872	T;T;T;T;T	0.48201	0.82;0.82;1.75;1.8;1.57	3.77	3.77	0.43336	.	0.137309	0.48286	D	0.000184	T	0.67887	0.2941	M	0.81112	2.525	0.58432	D	0.999996	D;D;D;D	0.89917	0.992;0.997;1.0;1.0	D;D;D;D	0.79784	0.933;0.946;0.993;0.987	T	0.73000	-0.4120	10	0.66056	D	0.02	.	12.834	0.57763	0.0:1.0:0.0:0.0	.	522;470;257;556	Q6H8Q1;Q19VH0;Q6H8Q1-4;E9PF39	ABLM2_HUMAN;.;.;.	D	555;257;257;556;522;470	ENSP00000317020:G257D;ENSP00000423661:G257D;ENSP00000393511:G556D;ENSP00000342813:G522D;ENSP00000421283:G470D	ENSP00000317020:G257D	G	-	2	0	ABLIM2	8045506	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.253000	0.32886	2.108000	0.64289	0.643000	0.83706	GGC		0.552	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		6	15	0	0	0	1	0	6	15				
SH2D3A	10045	broad.mit.edu	37	19	6754118	6754118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6754118C>T	ENST00000245908.6	-	8	1598	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	SH2D3A_ENST00000437152.3_Silent_p.A350A|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	443					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAAAGGCCAGCGCAGCCTCCG	0.647																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(1327-1329)gcG>gcA		SH2 domain containing 3A							27.0	33.0	31.0					19																	6754118		2203	4300	6503	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754118C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1329G>A	19.37:g.6754118C>T						SH2D3A_ENST00000437152.3_Silent_p.A350A	p.A443A	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			8	1598	-			443					A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.1329G>A	CCDS12173.1																																																																																				0.647	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		5	11	0	0	0	1	0	5	11				
ZDHHC6	64429	broad.mit.edu	37	10	114192146	114192146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114192146G>A	ENST00000369405.3	-	9	1502	c.1079C>T	c.(1078-1080)aCa>aTa	p.T360I	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.T356I	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	360					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TAAACCTCTTGTGGCTAAAAT	0.368																																						ENST00000369405.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1078-1080)aCa>aTa		zinc finger, DHHC-type containing 6							165.0	167.0	166.0					10																	114192146		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114192146G>A	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1079C>T	10.37:g.114192146G>A	ENSP00000358413:p.Thr360Ile					ZDHHC6_ENST00000369404.3_Missense_Mutation_p.T356I|ZDHHC6_ENST00000482410.1_5'UTR	p.T360I	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	9	1502	-		Colorectal(252;0.198)	360					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.1079C>T	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525793	0.85600	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.06933	3.24;3.24	6.07	5.17	0.71159	Src homology-3 domain (1);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.50259	-0.8849	10	0.87932	D	0	-2.5726	16.9041	0.86122	0.0:0.0:0.8709:0.1291	.	356;360	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	I	360;356	ENSP00000358413:T360I;ENSP00000358412:T356I	ENSP00000358412:T356I	T	-	2	0	ZDHHC6	114182136	1.000000	0.71417	0.906000	0.35671	0.994000	0.84299	9.779000	0.99018	1.566000	0.49654	0.655000	0.94253	ACA		0.368	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		7	121	0	0	0	1	0	7	121				
SPAG17	200162	broad.mit.edu	37	1	118642422	118642422	+	Splice_Site	SNP	G	G	A	rs376616445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118642422G>A	ENST00000336338.5	-	6	701	c.636C>T	c.(634-636)gaC>gaT	p.D212D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	212						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGGCTCATCGTCTGTTCAAA	0.398																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.e6-1		sperm associated antigen 17		G		0,4406		0,0,2203	48.0	41.0	44.0		636	-4.6	0.9	1		44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	SPAG17	NM_206996.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		212/2224	118642422	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118642422G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.635-1C>T	1.37:g.118642422G>A							p.D212_splice	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	6	701	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	212					Q8NAZ1|Q9NT21	Splice_Site	SNP	ENST00000336338.5	37	c.634_splice	CCDS899.1																																																																																				0.398	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Silent	19	25	0	0	0	1	0	19	25				
C18orf54	162681	broad.mit.edu	37	18	51889146	51889146	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51889146A>G	ENST00000300091.5	+	4	927	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	C18orf54_ENST00000578138.1_5'UTR|C18orf54_ENST00000382911.4_Missense_Mutation_p.K360E	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	199						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTAGGTGACAAAATTGAATT	0.333																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(595-597)Aaa>Gaa		chromosome 18 open reading frame 54							55.0	54.0	54.0					18																	51889146		2202	4300	6502	SO:0001583	missense	162681					extracellular region		g.chr18:51889146A>G	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.595A>G	18.37:g.51889146A>G	ENSP00000300091:p.Lys199Glu					C18orf54_ENST00000382911.4_Missense_Mutation_p.K360E|C18orf54_ENST00000578138.1_5'UTR	p.K199E	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	4	927	+			199					I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	c.595A>G	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299121	0.60195	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.18502	2.21;2.21	5.12	5.12	0.69794	.	0.194147	0.44483	D	0.000457	T	0.24736	0.0600	M	0.62723	1.935	0.36368	D	0.8611	P;P	0.52316	0.952;0.827	P;B	0.48815	0.591;0.275	T	0.27262	-1.0079	10	0.72032	D	0.01	-4.6781	9.1023	0.36676	0.9129:0.0:0.0871:0.0	.	360;199	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	E	199;360	ENSP00000300091:K199E;ENSP00000372368:K360E	ENSP00000300091:K199E	K	+	1	0	C18orf54	50143144	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.498000	0.35660	1.933000	0.56026	0.402000	0.26972	AAA		0.333	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		5	28	0	0	0	1	0	5	28				
ZNF236	7776	broad.mit.edu	37	18	74637348	74637348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74637348C>T	ENST00000253159.8	+	22	4057	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R1289*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1287					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCTATGACTCGAAGCTCATC	0.483																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3859-3861)Cga>Tga		zinc finger protein 236							72.0	73.0	73.0					18																	74637348		2014	4162	6176	SO:0001587	stop_gained	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74637348C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3859C>T	18.37:g.74637348C>T	ENSP00000253159:p.Arg1287*					ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R1289*	p.R1287*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	22	4057	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1287					B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	c.3859C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	42	9.600064	0.99216	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	4.85	3.98	0.46160	.	0.483231	0.20519	N	0.090734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8772	0.70504	0.1444:0.8556:0.0:0.0	.	.	.	.	X	1287	.	ENSP00000253159:R1287X	R	+	1	2	ZNF236	72766336	0.998000	0.40836	0.002000	0.10522	0.144000	0.21451	4.056000	0.57448	1.154000	0.42482	0.650000	0.86243	CGA		0.483	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			31	30	0	0	0	1	0	31	30				
DNM2	1785	broad.mit.edu	37	19	10904445	10904445	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10904445G>T	ENST00000355667.6	+	8	1122	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	DNM2_ENST00000408974.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000389253.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000585892.1_Nonsense_Mutation_p.G348*|DNM2_ENST00000314646.5_Nonsense_Mutation_p.G348*|DNM2_ENST00000359692.6_Nonsense_Mutation_p.G348*	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	348					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGAGGGCTCAGGAGATCAGGT	0.547			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1042-1044)Gga>Tga		dynamin 2							136.0	138.0	137.0					19																	10904445		2203	4300	6503	SO:0001587	stop_gained	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10904445G>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1042G>T	19.37:g.10904445G>T	ENSP00000347890:p.Gly348*					DNM2_ENST00000408974.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000359692.6_Nonsense_Mutation_p.G348*|DNM2_ENST00000389253.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000585892.1_Nonsense_Mutation_p.G348*|DNM2_ENST00000355667.6_Nonsense_Mutation_p.G348*	p.G348*			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		8	1206	+			348					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Nonsense_Mutation	SNP	ENST00000355667.6	37	c.1042G>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	39	7.484057	0.98312	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	.	.	.	4.79	4.79	0.61399	.	0.053074	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.8522	16.6229	0.84934	0.0:0.0:1.0:0.0	.	.	.	.	X	337;348;348;348;348;348	.	ENSP00000313164:G348X	G	+	1	0	DNM2	10765445	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	9.869000	0.99810	2.192000	0.70111	0.655000	0.94253	GGA		0.547	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		5	120	1	0	3.59834e-05	1	4.01776e-05	5	120				
OR5V1	81696	broad.mit.edu	37	6	29323529	29323529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29323529G>T	ENST00000377154.1	-	4	743	c.444C>A	c.(442-444)tgC>tgA	p.C148*	OR5V1_ENST00000543825.1_Nonsense_Mutation_p.C148*			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGCAGCCCAGCATGAGGCTG	0.433																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(442-444)tgC>tgA		olfactory receptor, family 5, subfamily V, member 1							77.0	77.0	77.0					6																	29323529		2203	4299	6502	SO:0001587	stop_gained	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323529G>T		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.444C>A	6.37:g.29323529G>T	ENSP00000366359:p.Cys148*					OR5V1_ENST00000543825.1_Nonsense_Mutation_p.C148*	p.C148*			Q9UGF6	OR5V1_HUMAN			4	743	-			148					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Nonsense_Mutation	SNP	ENST00000377154.1	37	c.444C>A	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316704	0.40996	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	.	.	.	4.37	-2.02	0.07388	.	0.231498	0.22443	N	0.059992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-32.3344	1.0527	0.01583	0.358:0.1089:0.3215:0.2116	.	.	.	.	X	148	.	ENSP00000366356:C148X	C	-	3	2	OR5V1	29431508	0.000000	0.05858	0.002000	0.10522	0.249000	0.25844	-1.058000	0.03482	-0.593000	0.05844	0.543000	0.68304	TGC		0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			6	70	1	0	0.217242	1	0.218821	6	70				
C17orf74	201243	broad.mit.edu	37	17	7329070	7329070	+	Silent	SNP	C	C	T	rs376095354		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7329070C>T	ENST00000333870.3	+	1	137	c.63C>T	c.(61-63)caC>caT	p.H21H	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.H21H	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	21						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AAAGCCCCCACGATGCCGAGG	0.547																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(61-63)caC>caT		chromosome 17 open reading frame 74		C		1,4091		0,1,2045	254.0	246.0	248.0		63	0.3	0.0	17		248	0,8366		0,0,4183	no	coding-synonymous	C17orf74	NM_175734.4		0,1,6228	TT,TC,CC		0.0,0.0244,0.0080		21/502	7329070	1,12457	2046	4183	6229	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7329070C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.63C>T	17.37:g.7329070C>T						C17orf74_ENST00000574034.1_Silent_p.H21H|RP11-104H15.7_ENST00000575310.1_RNA	p.H21H	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			1	137	+		Prostate(122;0.157)	21						Silent	SNP	ENST00000333870.3	37	c.63C>T	CCDS42255.1																																																																																				0.547	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		102	180	0	0	0	1	0	102	180				
GPR158	57512	broad.mit.edu	37	10	25877997	25877997	+	Silent	SNP	G	G	A	rs552012527		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25877997G>A	ENST00000376351.3	+	8	2174	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	605					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGTCCCATCGGCATTCCATG	0.418																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(1813-1815)tcG>tcA		G protein-coupled receptor 158							108.0	100.0	103.0					10																	25877997		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25877997G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1815G>A	10.37:g.25877997G>A							p.S605S	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			8	2174	+			605					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.1815G>A	CCDS31166.1																																																																																				0.418	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		10	45	0	0	0	1	0	10	45				
TCHH	7062	broad.mit.edu	37	1	152080388	152080388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080388G>A	ENST00000368804.1	-	2	5304	c.5305C>T	c.(5305-5307)Cgc>Tgc	p.R1769C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1769	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTCGCGCTCCTGGCGG	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5305-5307)Cgc>Tgc		trichohyalin							64.0	64.0	64.0					1																	152080388		1884	4109	5993	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080388G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5305C>T	1.37:g.152080388G>A	ENSP00000357794:p.Arg1769Cys						p.R1769C	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5304	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1769			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5305C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713009	0.30413	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	4.04	2.09	0.27110	.	.	.	.	.	T	0.07052	0.0179	M	0.64404	1.975	0.09310	N	1	D	0.76494	0.999	P	0.53360	0.724	T	0.16867	-1.0388	9	0.59425	D	0.04	1.7086	7.4134	0.27029	0.0:0.3494:0.4712:0.1795	.	1769	Q07283	TRHY_HUMAN	C	1769	ENSP00000357794:R1769C	ENSP00000357794:R1769C	R	-	1	0	TCHH	150347012	0.000000	0.05858	0.003000	0.11579	0.682000	0.39822	0.655000	0.24933	0.328000	0.23435	0.467000	0.42956	CGC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		25	54	0	0	0	1	0	25	54				
NFIB	4781	broad.mit.edu	37	9	14150255	14150255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14150255G>A	ENST00000380959.3	-	5	1168	c.695C>T	c.(694-696)aCc>aTc	p.T232I	NFIB_ENST00000380934.4_Missense_Mutation_p.T258I|NFIB_ENST00000380953.1_Missense_Mutation_p.T232I|NFIB_ENST00000397579.2_Missense_Mutation_p.T232I|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000397581.2_Missense_Mutation_p.T232I|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Missense_Mutation_p.T232I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	232					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGTTCCCTGGGTTATGGGCGC	0.443			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(694-696)aCc>aTc		nuclear factor I/B							234.0	237.0	236.0					9																	14150255		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14150255G>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.695C>T	9.37:g.14150255G>A	ENSP00000370346:p.Thr232Ile					NFIB_ENST00000397579.2_Missense_Mutation_p.T232I|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Missense_Mutation_p.T232I|NFIB_ENST00000397581.2_Missense_Mutation_p.T232I|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380934.4_Missense_Mutation_p.T258I|NFIB_ENST00000380953.1_Missense_Mutation_p.T232I	p.T232I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	5	1168	-			232					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.695C>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996065	0.74703	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	N	0.14661	0.345	0.53688	D	0.999978	D;P;D	0.71674	0.998;0.891;0.968	D;P;D	0.70935	0.971;0.485;0.954	T	0.42361	-0.9456	10	0.23302	T	0.38	.	18.791	0.91974	0.0:0.0:1.0:0.0	.	232;232;232	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	I	258;232;232;232;232;232	ENSP00000370321:T258I;ENSP00000370346:T232I;ENSP00000370340:T232I;ENSP00000380705:T232I;ENSP00000380711:T232I;ENSP00000380709:T232I	ENSP00000370321:T258I	T	-	2	0	NFIB	14140255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.708000	0.91372	2.489000	0.83994	0.655000	0.94253	ACC		0.443	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		7	227	0	0	0	1	0	7	227				
ATE1	11101	broad.mit.edu	37	10	123503324	123503324	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123503324C>T	ENST00000224652.6	-	12	1513	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	ATE1_ENST00000535655.1_Silent_p.K177K|ATE1_ENST00000543447.1_Silent_p.K361K|ATE1_ENST00000540606.1_Silent_p.K469K|ATE1_ENST00000369043.3_Silent_p.K476K|ATE1_ENST00000369040.3_Silent_p.K380K	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	476					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGATGGCTCTCTTGTGAAACA	0.463																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1426-1428)aaG>aaA		arginyltransferase 1							124.0	109.0	114.0					10																	123503324		2203	4300	6503	SO:0001819	synonymous_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123503324C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1428G>A	10.37:g.123503324C>T						ATE1_ENST00000540606.1_Silent_p.K469K|ATE1_ENST00000535655.1_Silent_p.K177K|ATE1_ENST00000543447.1_Silent_p.K361K|ATE1_ENST00000224652.6_Silent_p.K476K|ATE1_ENST00000369040.3_Silent_p.K380K	p.K476K	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			12	1514	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	476					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.1428G>A	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253282	0.22965	.	.	ENSG00000107669	ENST00000423243	.	.	.	5.02	4.1	0.47936	.	.	.	.	.	T	0.60064	0.2240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56926	-0.7898	4	.	.	.	-16.4287	9.7925	0.40715	0.0:0.9008:0.0:0.0992	.	.	.	.	K	473	.	.	E	-	1	0	ATE1	123493314	1.000000	0.71417	0.874000	0.34290	0.988000	0.76386	2.541000	0.45735	1.092000	0.41356	0.655000	0.94253	GAG		0.463	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		34	42	0	0	0	1	0	34	42				
KSR2	283455	broad.mit.edu	37	12	117962776	117962776	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117962776G>A	ENST00000339824.5	-	14	2827	c.2100C>T	c.(2098-2100)aaC>aaT	p.N700N	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.N397N|KSR2_ENST00000425217.1_Silent_p.N671N			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGTCCTCGTTGTCCCTCT	0.607																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2011-2013)aaC>aaT		kinase suppressor of ras 2							58.0	61.0	60.0					12																	117962776		2130	4219	6349	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962776G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2100C>T	12.37:g.117962776G>A						KSR2_ENST00000302438.5_Silent_p.N397N|KSR2_ENST00000339824.5_Silent_p.N700N|KSR2_ENST00000545002.1_5'UTR	p.N671N	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			14	2067	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		700			Protein kinase.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.2013C>T																																																																																					0.607	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		13	12	0	0	0	1	0	13	12				
ABCC6P1	653190	broad.mit.edu	37	16	18602499	18602499	+	RNA	SNP	C	C	T	rs549014992		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:18602499C>T	ENST00000546162.2	+	0	1073					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		GCCCTTCCTACGGCAAGAAGG	0.567																																						ENST00000546162.2																			0																																																			0							g.chr16:18602499C>T	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18602499C>T								NR_003569.1						0	1073	+									RNA	SNP	ENST00000546162.2	37			.	.	.	.	.	.	.	.	.	.	.	9.033	0.987741	0.18966	.	.	ENSG00000256340	ENST00000546162	.	.	.	3.22	3.22	0.36961	.	.	.	.	.	T	0.48909	0.1526	.	.	.	.	.	.	D;D	0.63046	0.992;0.972	P;B	0.49047	0.599;0.28	T	0.64516	-0.6389	6	0.66056	D	0.02	.	10.081	0.42391	0.0:1.0:0.0:0.0	.	176;290	B7Z554;A2RRN8	.;.	W	176	.	ENSP00000443361:R176W	R	+	1	2	ABCC6P1	18510000	0.193000	0.23313	0.018000	0.16275	0.106000	0.19336	1.439000	0.35013	1.767000	0.52121	0.400000	0.26472	CGG		0.567	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		18	37	0	0	0	1	0	18	37				
RSPH1	89765	broad.mit.edu	37	21	43897497	43897497	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43897497C>A	ENST00000291536.3	-	7	798	c.631G>T	c.(631-633)Gct>Tct	p.A211S	RSPH1_ENST00000398352.3_Missense_Mutation_p.A173S	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	211					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ATTTGGGTAGCTTTCCATTTT	0.453																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(631-633)Gct>Tct		radial spoke head 1 homolog (Chlamydomonas)							270.0	239.0	249.0					21																	43897497		2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43897497C>A	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.631G>T	21.37:g.43897497C>A	ENSP00000291536:p.Ala211Ser					RSPH1_ENST00000398352.3_Missense_Mutation_p.A173S	p.A211S	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN			7	798	-			211					A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.631G>T	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636655	0.67130	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.60672	0.17;0.19	4.3	4.3	0.51218	.	0.323708	0.33040	N	0.005345	T	0.57021	0.2025	M	0.65975	2.015	0.35930	D	0.83246	P	0.50819	0.939	P	0.46362	0.514	T	0.62882	-0.6760	10	0.10636	T	0.68	.	14.0774	0.64897	0.0:1.0:0.0:0.0	.	211	Q8WYR4	RSPH1_HUMAN	S	211;173	ENSP00000291536:A211S;ENSP00000381395:A173S	ENSP00000291536:A211S	A	-	1	0	RSPH1	42770566	1.000000	0.71417	0.880000	0.34516	0.856000	0.48823	4.033000	0.57282	2.139000	0.66308	0.655000	0.94253	GCT		0.453	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			33	63	1	0	2.81731e-10	1	3.46434e-10	33	63				
EXT1	2131	broad.mit.edu	37	8	118834803	118834803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:118834803G>A	ENST00000378204.2	-	5	2124	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	440					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AAACTGTTACGTGATATGTGC	0.358			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1318-1320)Cgt>Tgt		exostosin glycosyltransferase 1							120.0	118.0	119.0					8																	118834803		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118834803G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1318C>T	8.37:g.118834803G>A	ENSP00000367446:p.Arg440Cys						p.R440C	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		5	2124	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		440					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.1318C>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	g	19.28	3.796633	0.70567	.	.	ENSG00000182197	ENST00000378204	D	0.96745	-4.11	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	L	0.58810	1.83	0.80722	D	1	P	0.42039	0.769	B	0.30251	0.113	D	0.94350	0.7578	10	0.59425	D	0.04	-1.2893	20.2576	0.98430	0.0:0.0:1.0:0.0	.	440	Q16394	EXT1_HUMAN	C	440	ENSP00000367446:R440C	ENSP00000367446:R440C	R	-	1	0	EXT1	118903984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.103000	0.64578	2.783000	0.95769	0.655000	0.94253	CGT		0.358	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		22	49	0	0	0	1	0	22	49				
PTGFR	5737	broad.mit.edu	37	1	79002278	79002278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002278G>T	ENST00000370757.3	+	3	1223	c.986G>T	c.(985-987)aGc>aTc	p.S329I	PTGFR_ENST00000370758.1_Missense_Mutation_p.S329I|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	329					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CATGTCATCAGCTTACATATT	0.388																																						ENST00000370757.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(985-987)aGc>aTc		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						112.0	109.0	110.0					1																	79002278		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002278G>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.986G>T	1.37:g.79002278G>T	ENSP00000359793:p.Ser329Ile					PTGFR_ENST00000370758.1_Missense_Mutation_p.S329I|PTGFR_ENST00000370756.3_3'UTR	p.S329I	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1223	+			329					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.986G>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664453	0.47572	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	D;D	0.90069	-2.61;-2.61	5.85	4.92	0.64577	.	0.260277	0.39615	N	0.001315	T	0.73931	0.3650	L	0.43152	1.355	0.80722	D	1	B	0.28128	0.201	B	0.21360	0.034	T	0.69109	-0.5232	10	0.22706	T	0.39	-19.9034	9.3321	0.38027	0.1544:0.0:0.8456:0.0	.	329	P43088	PF2R_HUMAN	I	329	ENSP00000359794:S329I;ENSP00000359793:S329I	ENSP00000359793:S329I	S	+	2	0	PTGFR	78774866	0.997000	0.39634	0.999000	0.59377	0.978000	0.69477	3.107000	0.50329	2.941000	0.99782	0.655000	0.94253	AGC		0.388	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		7	149	1	0	2.17888e-05	1	2.45068e-05	7	149				
GINS3	64785	broad.mit.edu	37	16	58426548	58426548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58426548C>T	ENST00000318129.5	+	1	251	c.43C>T	c.(43-45)Cct>Tct	p.P15S	GINS3_ENST00000328514.7_Missense_Mutation_p.P15S|GINS3_ENST00000426538.2_Missense_Mutation_p.P15S	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	15	Not essential for folding and stability of GINS complex, but may regulate accessibility to the central complex pore.				DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCGCTGGGGCCTGAGGAGAA	0.597																																						ENST00000318129.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						c.(43-45)Cct>Tct		GINS complex subunit 3 (Psf3 homolog)							84.0	86.0	85.0					16																	58426548		2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58426548C>T	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.43C>T	16.37:g.58426548C>T	ENSP00000318196:p.Pro15Ser					GINS3_ENST00000426538.2_Missense_Mutation_p.P15S|GINS3_ENST00000328514.7_Missense_Mutation_p.P15S	p.P15S	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN			1	251	+			15			Not essential for folding and stability of GINS complex, but may regulate accessibility to the central complex pore.		B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.43C>T	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	C	3.918	-0.018723	0.07681	.	.	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T	0.17528	2.27	5.71	0.26	0.15588	.	0.455727	0.25610	N	0.029490	T	0.10981	0.0268	L	0.44542	1.39	0.09310	N	0.999998	B;B;B	0.15141	0.0;0.0;0.012	B;B;B	0.08055	0.003;0.002;0.002	T	0.32587	-0.9901	10	0.19147	T	0.46	-1.7078	5.4842	0.16741	0.0:0.5065:0.2681:0.2254	.	15;15;15	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	S	15	ENSP00000318196:P15S	ENSP00000318196:P15S	P	+	1	0	GINS3	56984049	0.001000	0.12720	0.031000	0.17742	0.399000	0.30720	0.206000	0.17375	-0.146000	0.11274	-0.216000	0.12614	CCT		0.597	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		22	43	0	0	0	1	0	22	43				
STK17A	9263	broad.mit.edu	37	7	43664326	43664326	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43664326C>A	ENST00000319357.5	+	7	1309	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	377					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACTTCATATACTCTAGGACAA	0.373																																						ENST00000319357.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(1129-1131)aCt>aAt		serine/threonine kinase 17a							83.0	82.0	82.0					7																	43664326		2203	4300	6503	SO:0001583	missense	9263				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr7:43664326C>A	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.1130C>A	7.37:g.43664326C>A	ENSP00000319192:p.Thr377Asn						p.T377N	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN			7	1309	+			377					A4D1V6|Q8IVC8	Missense_Mutation	SNP	ENST00000319357.5	37	c.1130C>A	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763361	0.69763	.	.	ENSG00000164543	ENST00000319357	T	0.67171	-0.25	4.61	4.61	0.57282	.	0.000000	0.48767	D	0.000167	T	0.69691	0.3139	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	T	0.67173	-0.5737	10	0.25751	T	0.34	.	17.4315	0.87541	0.0:1.0:0.0:0.0	.	377	Q9UEE5	ST17A_HUMAN	N	377	ENSP00000319192:T377N	ENSP00000319192:T377N	T	+	2	0	STK17A	43630851	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.519000	0.60517	2.082000	0.62665	0.563000	0.77884	ACT		0.373	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		69	59	1	0	6.07242e-22	1	8.00605e-22	69	59				
ATP6AP2	10159	broad.mit.edu	37	X	40458973	40458973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:40458973C>T	ENST00000378438.4	+	7	876	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L164F|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L208F|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L162F	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	240					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						TTCTAAGATCCTTGTTGACGC	0.398																																						ENST00000378438.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(718-720)Ctt>Ttt		ATPase, H+ transporting, lysosomal accessory protein 2							147.0	128.0	135.0					X																	40458973		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40458973C>T	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.718C>T	X.37:g.40458973C>T	ENSP00000367697:p.Leu240Phe					ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L164F|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L162F|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L208F|ATP6AP2_ENST00000486558.1_3'UTR	p.L240F	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN			7	876	+			240					B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.718C>T	CCDS14252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652902|4.652902	0.88056|0.88056	.|.	.|.	ENSG00000182220|ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777|ENST00000423649	T;T;T;T|.	0.76448|.	-1.02;0.88;0.74;-1.02|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74137|0.74137	0.3677|0.3677	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.996;0.998;0.998;0.996|.	T|T	0.73975|0.73975	-0.3813|-0.3813	10|5	0.51188|.	T|.	0.08|.	-26.0981|-26.0981	17.8863|17.8863	0.88855|0.88855	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	162;208;164;240|.	B7Z1I9;B7Z9I3;B7Z413;O75787|.	.;.;.;RENR_HUMAN|.	F|L	208;240;164;162|180	ENSP00000438415:L208F;ENSP00000367697:L240F;ENSP00000440459:L164F;ENSP00000441536:L162F|.	ENSP00000367697:L240F|.	L|P	+|+	1|2	0|0	ATP6AP2|ATP6AP2	40343917|40343917	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.908000|0.908000	0.53690|0.53690	7.445000|7.445000	0.80570|0.80570	2.243000|2.243000	0.73865|0.73865	0.594000|0.594000	0.82650|0.82650	CTT|CCT		0.398	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		31	55	0	0	0	1	0	31	55				
ITGB6	3694	broad.mit.edu	37	2	160964245	160964245	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160964245T>C	ENST00000283249.2	-	14	2450	c.2213A>G	c.(2212-2214)gAt>gGt	p.D738G	ITGB6_ENST00000428609.2_Missense_Mutation_p.D696G|ITGB6_ENST00000409872.1_Missense_Mutation_p.D738G|ITGB6_ENST00000409967.2_Missense_Mutation_p.D631G	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	738	Interaction with HAX1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCTTTACGATCATGAAATGA	0.463																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2212-2214)gAt>gGt		integrin, beta 6							152.0	145.0	147.0					2																	160964245		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964245T>C		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2213A>G	2.37:g.160964245T>C	ENSP00000283249:p.Asp738Gly					ITGB6_ENST00000409872.1_Missense_Mutation_p.D738G|ITGB6_ENST00000428609.2_Missense_Mutation_p.D696G|ITGB6_ENST00000409967.2_Missense_Mutation_p.D631G	p.D738G			P18564	ITB6_HUMAN			14	2450	-			738			Interaction with HAX1.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2213A>G	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.838679	0.91117	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.99277	-5.67;-5.67;-5.67;-5.67	5.79	5.79	0.91817	Integrin beta subunit, cytoplasmic (2);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98233	1.0484	10	0.87932	D	0	.	16.1376	0.81497	0.0:0.0:0.0:1.0	.	696;738	E9PEE8;P18564	.;ITB6_HUMAN	G	738;696;631;738	ENSP00000283249:D738G;ENSP00000408024:D696G;ENSP00000386828:D631G;ENSP00000386367:D738G	ENSP00000283249:D738G	D	-	2	0	ITGB6	160672491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.212000	0.71576	0.533000	0.62120	GAT		0.463	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		11	88	0	0	0	1	0	11	88				
MARCH2	51257	broad.mit.edu	37	19	8486897	8486897	+	Missense_Mutation	SNP	C	C	T	rs138648064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8486897C>T	ENST00000602117.1	+	2	628	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MARCH2_ENST00000393944.1_Missense_Mutation_p.P58L|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Missense_Mutation_p.P58L|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Missense_Mutation_p.P58L			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	58					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TTGGACACACCGAGGTGAGTG	0.607																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(172-174)cCg>cTg		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							84.0	67.0	72.0					19																	8486897		2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8486897C>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.173C>T	19.37:g.8486897C>T	ENSP00000471536:p.Pro58Leu					MARCH2_ENST00000393944.1_Missense_Mutation_p.P58L|MARCH2_ENST00000381035.4_Missense_Mutation_p.P58L|MARCH2_ENST00000215555.2_Missense_Mutation_p.P58L|MARCH2_ENST00000601283.1_Intron	p.P58L			Q9P0N8	MARH2_HUMAN			2	628	+			58					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.173C>T	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838893	0.51057	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.14022	2.54;2.54;2.54	5.55	2.1	0.27182	Zinc finger, RING-CH-type (1);	0.233058	0.44097	N	0.000484	T	0.04998	0.0134	N	0.08118	0	0.34639	D	0.720429	B;B	0.32128	0.0;0.357	B;B	0.16289	0.001;0.015	T	0.37009	-0.9724	10	0.36615	T	0.2	-7.3192	6.8831	0.24185	0.5022:0.4085:0.0:0.0893	.	58;58	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	L	58	ENSP00000377518:P58L;ENSP00000215555:P58L;ENSP00000370423:P58L	ENSP00000215555:P58L	P	+	2	0	MARCH2	8392897	0.997000	0.39634	0.009000	0.14445	0.932000	0.56968	4.448000	0.60027	0.696000	0.31696	-0.350000	0.07774	CCG		0.607	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		16	33	0	0	0	1	0	16	33				
SHANK1	50944	broad.mit.edu	37	19	51169592	51169592	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51169592G>T	ENST00000293441.1	-	22	5643	c.5625C>A	c.(5623-5625)agC>agA	p.S1875R	SHANK1_ENST00000391813.1_Missense_Mutation_p.S1262R|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.S1883R|SHANK1_ENST00000359082.3_Missense_Mutation_p.S1866R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1875					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAAGCTTGGAGCTGAGTTCAC	0.697																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(5623-5625)agC>agA		SH3 and multiple ankyrin repeat domains 1							29.0	28.0	29.0					19																	51169592		2202	4300	6502	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169592G>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5625C>A	19.37:g.51169592G>T	ENSP00000293441:p.Ser1875Arg					SHANK1_ENST00000391813.1_Missense_Mutation_p.S1262R|SHANK1_ENST00000359082.3_Missense_Mutation_p.S1866R|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.S1883R	p.S1875R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5643	-		all_neural(266;0.057)	1875					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5625C>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	7.750	0.703094	0.15172	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.46063	1.01;1.48;0.99;0.88	2.89	1.84	0.25277	.	0.222157	0.32836	U	0.005584	T	0.31765	0.0807	L	0.60455	1.87	0.39685	D	0.970957	B;P	0.37101	0.053;0.582	B;B	0.30316	0.014;0.114	T	0.38866	-0.9641	10	0.72032	D	0.01	.	7.3861	0.26882	0.1436:0.0:0.8564:0.0	.	1875;1262	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	R	1875;1262;1866;1883	ENSP00000293441:S1875R;ENSP00000375689:S1262R;ENSP00000351984:S1866R;ENSP00000375690:S1883R	ENSP00000293441:S1875R	S	-	3	2	SHANK1	55861404	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.855000	0.48333	1.620000	0.50308	0.195000	0.17529	AGC		0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	15	1	0	0.00198382	1	0.00210581	7	15				
HDDC2	51020	broad.mit.edu	37	6	125614012	125614012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125614012C>A	ENST00000398153.2	-	4	395	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HDDC2_ENST00000368377.4_Missense_Mutation_p.R84I|HDDC2_ENST00000608295.1_Intron	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	118	HD.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GAGCTCCTTTCTGAGGTCCTC	0.343																																						ENST00000398153.1																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(352-354)aGa>aTa		HD domain containing 2							144.0	141.0	142.0					6																	125614012		1835	4094	5929	SO:0001583	missense	51020						metal ion binding|phosphoric diester hydrolase activity	g.chr6:125614012C>A	AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.353G>T	6.37:g.125614012C>A	ENSP00000381220:p.Arg118Ile					HDDC2_ENST00000368377.4_Missense_Mutation_p.R84I	p.R118I	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)	4	556	-			118			HD.		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	ENST00000398153.2	37	c.353G>T	CCDS43503.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242578	0.39598	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.45668	0.89;0.89;0.89	5.52	2.65	0.31530	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.431602	0.28577	N	0.014860	T	0.24774	0.0601	M	0.70595	2.14	0.42683	D	0.993558	B	0.11235	0.004	B	0.16722	0.016	T	0.15206	-1.0445	10	0.52906	T	0.07	.	9.0251	0.36224	0.0:0.6769:0.0:0.3231	.	118	Q7Z4H3	HDDC2_HUMAN	I	84;118;84	ENSP00000316242:R84I;ENSP00000381220:R118I;ENSP00000357361:R84I	ENSP00000316242:R84I	R	-	2	0	HDDC2	125655711	0.514000	0.26202	0.891000	0.34965	0.710000	0.40934	0.844000	0.27654	0.755000	0.32990	0.655000	0.94253	AGA		0.343	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472493.1	NM_016063		43	90	1	0	3.68337e-26	1	4.90535e-26	43	90				
POLD3	10714	broad.mit.edu	37	11	74340269	74340269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74340269C>T	ENST00000263681.2	+	9	1036	c.907C>T	c.(907-909)Cga>Tga	p.R303*	POLD3_ENST00000532497.1_Nonsense_Mutation_p.R197*|POLD3_ENST00000527458.1_Nonsense_Mutation_p.R264*	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	303					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGGGGGAAGCGAGTAGCATT	0.383																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(907-909)Cga>Tga		polymerase (DNA-directed), delta 3, accessory subunit							143.0	144.0	144.0					11																	74340269		2200	4293	6493	SO:0001587	stop_gained	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74340269C>T	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.907C>T	11.37:g.74340269C>T	ENSP00000263681:p.Arg303*					POLD3_ENST00000527458.1_Nonsense_Mutation_p.R264*|POLD3_ENST00000532497.1_Nonsense_Mutation_p.R197*	p.R303*	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			9	1036	+	Breast(11;3.21e-06)		303					B7ZAI6|Q32MZ9|Q32N00	Nonsense_Mutation	SNP	ENST00000263681.2	37	c.907C>T	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292249	0.95546	.	.	ENSG00000077514	ENST00000263681;ENST00000527458;ENST00000532497	.	.	.	5.73	5.73	0.89815	.	0.195954	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-18.6084	15.3929	0.74760	0.0:1.0:0.0:0.0	.	.	.	.	X	303;264;197	.	ENSP00000263681:R303X	R	+	1	2	POLD3	74017917	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.971000	0.40530	2.713000	0.92767	0.591000	0.81541	CGA		0.383	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		46	118	0	0	0	1	0	46	118				
IGHV3-72	28410	broad.mit.edu	37	14	107199192	107199192	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107199192G>A	ENST00000433072.2	-	0	176									immunoglobulin heavy variable 3-72																		GACCCTCCAGGCTGGACCAAG	0.592																																						ENST00000433072.2																			0																				99.0	96.0	97.0					14																	107199192		1894	4097	5991			0							g.chr14:107199192G>A	X92206		14q32.33	2012-02-08			ENSG00000225698	ENSG00000225698		"""Immunoglobulins / IGH locus"""	5622	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151865		14.37:g.107199192G>A														0	176	-									RNA	SNP	ENST00000433072.2	37																																																																																						0.592	IGHV3-72-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324210.1	NG_001019		23	58	0	0	0	1	0	23	58				
MUC16	94025	broad.mit.edu	37	19	9057153	9057153	+	Missense_Mutation	SNP	G	G	A	rs374480187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9057153G>A	ENST00000397910.4	-	3	30496	c.30293C>T	c.(30292-30294)cCt>cTt	p.P10098L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10100	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGAAGAAGGATGAATTTT	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30292-30294)cCt>cTt		mucin 16, cell surface associated							118.0	113.0	114.0					19																	9057153		1944	4158	6102	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057153G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30293C>T	19.37:g.9057153G>A	ENSP00000381008:p.Pro10098Leu						p.P10098L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30496	-			10100			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30293C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.331	0.246349	0.10130	.	.	ENSG00000181143	ENST00000397910	T	0.26957	1.7	2.79	-1.97	0.07503	.	.	.	.	.	T	0.17534	0.0421	L	0.32530	0.975	.	.	.	B	0.23650	0.089	B	0.26416	0.069	T	0.27054	-1.0085	8	0.87932	D	0	.	6.3191	0.21206	0.5831:0.0:0.4169:0.0	.	10098	B5ME49	.	L	10098	ENSP00000381008:P10098L	ENSP00000381008:P10098L	P	-	2	0	MUC16	8918153	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.436000	0.21526	-0.344000	0.08338	-0.251000	0.11542	CCT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	76	0	0	0	1	0	6	76				
SMARCC1	6599	broad.mit.edu	37	3	47703916	47703916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47703916C>T	ENST00000254480.5	-	20	2185	c.2066G>A	c.(2065-2067)aGt>aAt	p.S689N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	689					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTGACTGACTGAAGGGGAC	0.512																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2065-2067)aGt>aAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							76.0	72.0	73.0					3																	47703916		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47703916C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2066G>A	3.37:g.47703916C>T	ENSP00000254480:p.Ser689Asn					SMARCC1_ENST00000425518.1_5'UTR	p.S689N	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	20	2185	-			689					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2066G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139251	0.94560	.	.	ENSG00000173473	ENST00000254480	T	0.54479	0.57	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	M	0.68952	2.095	0.80722	D	1	P	0.38582	0.638	B	0.37989	0.262	T	0.63129	-0.6706	10	0.87932	D	0	-16.2888	18.214	0.89879	0.0:1.0:0.0:0.0	.	689	Q92922	SMRC1_HUMAN	N	689	ENSP00000254480:S689N	ENSP00000254480:S689N	S	-	2	0	SMARCC1	47678920	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.627000	0.83176	2.608000	0.88229	0.591000	0.81541	AGT		0.512	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			11	28	0	0	0	1	0	11	28				
BBS5	129880	broad.mit.edu	37	2	170344594	170344594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170344594G>T	ENST00000295240.3	+	5	732	c.356G>T	c.(355-357)aGa>aTa	p.R119I	BBS5_ENST00000554017.1_Missense_Mutation_p.R119I|BBS5_ENST00000392663.2_Missense_Mutation_p.R119I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R119I	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	119					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGAAGCCCTAGACTTTTTACT	0.338									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(355-357)aGa>aTa		Bardet-Biedl syndrome 5							58.0	65.0	63.0					2																	170344594		2202	4300	6502	SO:0001583	missense	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170344594G>T	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.356G>T	2.37:g.170344594G>T	ENSP00000295240:p.Arg119Ile					BBS5_ENST00000392663.2_Missense_Mutation_p.R119I|BBS5_ENST00000554017.1_Missense_Mutation_p.R119I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R119I	p.R119I	NM_152384.2	NP_689597.1					5	732	+								D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.356G>T	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083449	0.94050	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.38	5.38	0.77491	.	0.042441	0.85682	D	0.000000	D	0.86940	0.6054	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.76071	0.987;0.914;0.948	D	0.88285	0.2939	10	0.87932	D	0	-19.2201	19.1282	0.93394	0.0:0.0:1.0:0.0	.	119;119;119	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	I	119	ENSP00000295240:R119I;ENSP00000452313:R119I;ENSP00000376431:R119I;ENSP00000424363:R119I	ENSP00000295240:R119I	R	+	2	0	BBS5;RP11-724O16.1	170052840	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.519000	0.84933	0.655000	0.94253	AGA		0.338	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		39	55	1	0	6.04917e-29	1	8.08967e-29	39	55				
SLC35C1	55343	broad.mit.edu	37	11	45827637	45827637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45827637C>T	ENST00000314134.3	+	1	1681	c.285C>T	c.(283-285)gcC>gcT	p.A95A	SLC35C1_ENST00000456334.1_Silent_p.A82A|SLC35C1_ENST00000442528.2_Silent_p.A82A	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	95					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCGCTCTGGCCGCCTGCTGCC	0.667																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(283-285)gcC>gcT		solute carrier family 35 (GDP-fucose transporter), member C1							71.0	61.0	64.0					11																	45827637		2203	4299	6502	SO:0001819	synonymous_variant	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827637C>T		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.285C>T	11.37:g.45827637C>T						SLC35C1_ENST00000442528.2_Silent_p.A82A|SLC35C1_ENST00000456334.1_Silent_p.A82A	p.A95A	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1681	+			95					B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	c.285C>T	CCDS7914.1																																																																																				0.667	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		14	26	0	0	0	1	0	14	26				
CYB561D2	11068	broad.mit.edu	37	3	50391089	50391089	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50391089G>T	ENST00000418577.1	+	3	1159	c.583G>T	c.(583-585)Gct>Tct	p.A195S	CYB561D2_ENST00000425346.1_Missense_Mutation_p.A195S|CYB561D2_ENST00000232508.5_Missense_Mutation_p.A195S|CYB561D2_ENST00000424512.1_Missense_Mutation_p.A195S|XXcos-LUCA11.5_ENST00000606589.1_Intron|NPRL2_ENST00000232501.3_5'Flank			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	195	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGTACCTGGCTGTATTATG	0.562																																						ENST00000418577.1																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(583-585)Gct>Tct		cytochrome b561 family, member D2							118.0	114.0	116.0					3																	50391089		2203	4300	6503	SO:0001583	missense	11068				electron transport chain|transport	integral to membrane	metal ion binding	g.chr3:50391089G>T	AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"""Cytochrome b genes"""	30253	protein-coding gene	gene with protein product	"""putative tumor suppressor 101F6"""	607068	"""cytochrome b-561 domain containing 2"""			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.583G>T	3.37:g.50391089G>T	ENSP00000391209:p.Ala195Ser					XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.A195S|CYB561D2_ENST00000232508.5_Missense_Mutation_p.A195S|CYB561D2_ENST00000424512.1_Missense_Mutation_p.A195S	p.A195S			O14569	C56D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1159	+			195			Cytochrome b561.		A8K552	Missense_Mutation	SNP	ENST00000418577.1	37	c.583G>T	CCDS2827.1	.	.	.	.	.	.	.	.	.	.	G	8.483	0.860157	0.17178	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.58	5.58	0.84498	Cytochrome b561/ferric reductase transmembrane (1);	0.217362	0.46758	D	0.000261	T	0.52597	0.1744	L	0.43152	1.355	0.41564	D	0.988641	B	0.17038	0.02	B	0.09377	0.004	T	0.46707	-0.9172	9	0.25106	T	0.35	.	12.8645	0.57932	0.0:0.0:0.7203:0.2797	.	195	O14569	C56D2_HUMAN	S	195	.	ENSP00000232508:A195S	A	+	1	0	CYB561D2	50366093	0.997000	0.39634	1.000000	0.80357	0.255000	0.26057	1.995000	0.40767	2.641000	0.89580	0.561000	0.74099	GCT		0.562	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345973.1	NM_007022		43	81	1	0	1.30475e-32	1	1.75117e-32	43	81				
MBD2	8932	broad.mit.edu	37	18	51715253	51715253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51715253C>A	ENST00000256429.3	-	3	1059	c.831G>T	c.(829-831)caG>caT	p.Q277H		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	277					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CCTGACGTGGCTGTTCATTCA	0.333																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(829-831)caG>caT		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						233.0	218.0	223.0					18																	51715253		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51715253C>A	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.831G>T	18.37:g.51715253C>A	ENSP00000256429:p.Gln277His						p.Q277H	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	3	1059	-			277					O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.831G>T	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	8.261	0.811174	0.16537	.	.	ENSG00000134046	ENST00000256429	D	0.98717	-5.09	5.67	2.45	0.29901	.	0.145749	0.46442	D	0.000292	D	0.98595	0.9530	M	0.75447	2.3	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	D	0.98483	1.0606	10	0.87932	D	0	-8.8438	9.1276	0.36826	0.0:0.6539:0.0:0.3461	.	277	Q9UBB5	MBD2_HUMAN	H	277	ENSP00000256429:Q277H	ENSP00000256429:Q277H	Q	-	3	2	MBD2	49969251	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.646000	0.24797	0.744000	0.32741	0.563000	0.77884	CAG		0.333	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		10	153	1	0	3.07112e-06	1	3.52574e-06	10	153				
OR3A4P	390756	broad.mit.edu	37	17	3214117	3214117	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3214117C>A	ENST00000573491.1	-	0	359																											CTCTTAACTTCTGTGGCCCCA	0.522																																						ENST00000573491.1																			0																				184.0	185.0	184.0					17																	3214117		2203	4300	6503			0							g.chr17:3214117C>A																													17.37:g.3214117C>A						OR3A4P_ENST00000323164.4_RNA								0	359	-									RNA	SNP	ENST00000573491.1	37																																																																																						0.522	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			8	117	1	0	0.00307968	1	0.00325696	8	117				
RP1L1	94137	broad.mit.edu	37	8	10465764	10465764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465764C>A	ENST00000382483.3	-	4	6067	c.5844G>T	c.(5842-5844)caG>caT	p.Q1948H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2028	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].		Missing.		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGCCTCCTGGGCCGCCT	0.602																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5842-5844)caG>caT		retinitis pigmentosa 1-like 1							122.0	140.0	134.0					8																	10465764		2053	4194	6247	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465764C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5844G>T	8.37:g.10465764C>A	ENSP00000371923:p.Gln1948His						p.Q1948H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6067	-			1948					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5844G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	9.910	1.209208	0.22205	.	.	ENSG00000183638	ENST00000382483	T	0.07908	3.15	1.24	1.24	0.21308	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.37943	0.261	T	0.41106	-0.9527	9	0.59425	D	0.04	.	9.4821	0.38906	0.0:1.0:0.0:0.0	.	1948	A6NKC6	.	H	1948	ENSP00000371923:Q1948H	ENSP00000371923:Q1948H	Q	-	3	2	RP1L1	10503174	0.003000	0.15002	0.219000	0.23793	0.244000	0.25665	-0.022000	0.12480	0.535000	0.28714	0.305000	0.20034	CAG		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			11	134	1	0	0.105934	1	0.108051	11	134				
CUX1	1523	broad.mit.edu	37	7	101877506	101877506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101877506G>A	ENST00000292535.7	+	22	3646	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q	CUX1_ENST00000550008.2_Missense_Mutation_p.R1147Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1045Q|CUX1_ENST00000546411.2_Missense_Mutation_p.R1101Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R1214Q|CUX1_ENST00000549414.2_Missense_Mutation_p.R1181Q|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1203					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACATGAAACGGATGGAGAAG	0.547																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3640-3642)cGg>cAg		cut-like homeobox 1							61.0	54.0	57.0					7																	101877506		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877506G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3608G>A	7.37:g.101877506G>A	ENSP00000292535:p.Arg1203Gln					CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1101Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1045Q|CUX1_ENST00000550008.2_Missense_Mutation_p.R1147Q|CUX1_ENST00000549414.2_Missense_Mutation_p.R1181Q|CUX1_ENST00000292535.7_Missense_Mutation_p.R1203Q|CUX1_ENST00000393824.3_Intron	p.R1214Q	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			22	3661	+			1203					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3641G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	36	5.811737	0.96975	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60171	0.23;0.23;0.22;0.21;0.23;0.21	5.32	5.32	0.75619	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.70622	-0.4821	10	0.66056	D	0.02	-25.5597	19.0082	0.92861	0.0:0.0:1.0:0.0	.	1203;1214	P39880;P39880-3	CUX1_HUMAN;.	Q	1214;1203;1181;1147;1101;1045	ENSP00000353401:R1214Q;ENSP00000292535:R1203Q;ENSP00000446630:R1181Q;ENSP00000447373:R1147Q;ENSP00000450125:R1101Q;ENSP00000451558:R1045Q	ENSP00000292535:R1203Q	R	+	2	0	CUX1	101664226	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.486000	0.83907	0.655000	0.94253	CGG		0.547	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		11	30	0	0	0	1	0	11	30				
TRIML1	339976	broad.mit.edu	37	4	189063519	189063519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189063519G>T	ENST00000332517.3	+	3	758	c.618G>T	c.(616-618)gaG>gaT	p.E206D	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	206					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGAGAAAGAGAACATGAGGA	0.448																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(616-618)gaG>gaT		tripartite motif family-like 1							119.0	118.0	118.0					4																	189063519		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063519G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.618G>T	4.37:g.189063519G>T	ENSP00000327738:p.Glu206Asp					RP11-366H4.3_ENST00000501322.2_RNA	p.E206D	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	3	758	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	206					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.618G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	4.762	0.141658	0.09083	.	.	ENSG00000184108	ENST00000332517	T	0.09445	2.98	5.04	1.16	0.20824	.	0.534882	0.17179	N	0.183974	T	0.06735	0.0172	L	0.47078	1.49	0.21579	N	0.999635	B	0.09022	0.002	B	0.08055	0.003	T	0.40701	-0.9549	10	0.09084	T	0.74	-10.116	1.8273	0.03123	0.1741:0.2969:0.3765:0.1525	.	206	Q8N9V2	TRIML_HUMAN	D	206	ENSP00000327738:E206D	ENSP00000327738:E206D	E	+	3	2	TRIML1	189300513	0.000000	0.05858	0.354000	0.25760	0.127000	0.20565	-0.605000	0.05661	0.398000	0.25338	0.650000	0.86243	GAG		0.448	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		8	35	1	0	0.000157383	1	0.00017284	8	35				
KIAA1161	57462	broad.mit.edu	37	9	34372162	34372162	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372162C>T	ENST00000297625.7	-	2	903	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	260					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGTGGTAGCGCGCCTGAAGCC	0.667																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(676-678)gcG>gcA		KIAA1161							14.0	18.0	17.0					9																	34372162		2055	4180	6235	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372162C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.678G>A	9.37:g.34372162C>T							p.A226A	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	903	-			260					Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.678G>A																																																																																					0.667	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		6	10	0	0	0	1	0	6	10				
GPR21	2844	broad.mit.edu	37	9	125797635	125797635	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125797635C>A	ENST00000373642.1	+	1	830	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	264					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ATTTTACATCCTCTGGTTGCC	0.507																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(790-792)Ctc>Atc		G protein-coupled receptor 21							175.0	151.0	159.0					9																	125797635		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797635C>A	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.790C>A	9.37:g.125797635C>A	ENSP00000362746:p.Leu264Ile					RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	p.L264I	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	830	+			264					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.790C>A	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080789	0.76528	.	.	ENSG00000188394	ENST00000373642	T	0.38887	1.11	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000033	T	0.56529	0.1991	L	0.46157	1.445	0.80722	D	1	D	0.53619	0.961	P	0.56788	0.806	T	0.55418	-0.8144	10	0.87932	D	0	-15.076	20.3495	0.98807	0.0:1.0:0.0:0.0	.	264	Q99679	GPR21_HUMAN	I	264	ENSP00000362746:L264I	ENSP00000362746:L264I	L	+	1	0	GPR21	124837456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.781000	0.68964	2.814000	0.96858	0.591000	0.81541	CTC		0.507	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		35	81	1	0	2.19358e-23	1	2.90382e-23	35	81				
SKAP1	8631	broad.mit.edu	37	17	46423329	46423329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46423329C>T	ENST00000336915.6	-	4	287	c.218G>A	c.(217-219)aGc>aAc	p.S73N	SKAP1_ENST00000584924.1_Missense_Mutation_p.S73N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	73					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGAGTCCCGCTGTGATTATC	0.448																																						ENST00000336915.6																			0				large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(217-219)aGc>aAc		src kinase associated phosphoprotein 1							85.0	73.0	77.0					17																	46423329		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46423329C>T	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.218G>A	17.37:g.46423329C>T	ENSP00000338171:p.Ser73Asn					SKAP1_ENST00000584924.1_Missense_Mutation_p.S73N	p.S73N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN			4	287	-			73					D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.218G>A	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462492	0.43736	.	.	ENSG00000141293	ENST00000336915	T	0.32515	1.45	5.27	5.27	0.74061	.	0.169619	0.47852	D	0.000205	T	0.50360	0.1611	L	0.55834	1.745	0.43667	D	0.996099	B;D	0.69078	0.001;0.997	B;D	0.75484	0.004;0.986	T	0.37103	-0.9720	10	0.39692	T	0.17	-33.4291	15.979	0.80091	0.0:1.0:0.0:0.0	.	73;73	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	N	73	ENSP00000338171:S73N	ENSP00000338171:S73N	S	-	2	0	SKAP1	43778328	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.729000	0.47327	2.626000	0.88956	0.655000	0.94253	AGC		0.448	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		13	11	0	0	0	1	0	13	11				
RGS12	6002	broad.mit.edu	37	4	3418809	3418809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3418809C>T	ENST00000344733.5	+	8	3501	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M	RGS12_ENST00000538395.1_Missense_Mutation_p.T208M|RGS12_ENST00000306648.7_Missense_Mutation_p.T264M|RGS12_ENST00000338806.4_Missense_Mutation_p.T218M|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.T866M|RGS12_ENST00000336727.3_Missense_Mutation_p.T866M	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	866					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGTGTCCACGCCAAAAAAG	0.637																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2596-2598)aCg>aTg		regulator of G-protein signaling 12							35.0	36.0	36.0					4																	3418809		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3418809C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2597C>T	4.37:g.3418809C>T	ENSP00000339381:p.Thr866Met					RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.T866M|RGS12_ENST00000344733.5_Missense_Mutation_p.T866M|RGS12_ENST00000338806.4_Missense_Mutation_p.T218M|RGS12_ENST00000306648.7_Missense_Mutation_p.T264M|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.T208M	p.T866M	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	3501	+			866					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2597C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782938	0.70222	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37752	1.45;1.45;1.45;1.21;1.18;1.23	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.80183	2.485	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.75484	0.957;0.964;0.932;0.964;0.986;0.944;0.97;0.948;0.977	T	0.66866	-0.5815	10	0.51188	T	0.08	-22.8914	16.9834	0.86334	0.0:1.0:0.0:0.0	.	208;65;208;65;208;218;264;866;866	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	M	866;866;866;264;218;208	ENSP00000339381:T866M;ENSP00000338509:T866M;ENSP00000372238:T866M;ENSP00000304459:T264M;ENSP00000342133:T218M;ENSP00000438888:T208M	ENSP00000304459:T264M	T	+	2	0	RGS12	3388607	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.485000	0.81204	2.249000	0.74217	0.609000	0.83330	ACG		0.637	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		17	17	0	0	0	1	0	17	17				
IGF2R	3482	broad.mit.edu	37	6	160485509	160485509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160485509G>T	ENST00000356956.1	+	28	4111	c.3963G>T	c.(3961-3963)aaG>aaT	p.K1321N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1321					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTTGCCATAAGGTTTATCAGC	0.522																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3961-3963)aaG>aaT		insulin-like growth factor 2 receptor							97.0	104.0	102.0					6																	160485509		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160485509G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3963G>T	6.37:g.160485509G>T	ENSP00000349437:p.Lys1321Asn						p.K1321N	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	28	4111	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1321					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3963G>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161399	0.38119	.	.	ENSG00000197081	ENST00000356956	T	0.03524	3.9	5.48	-0.132	0.13489	Mannose-6-phosphate receptor, binding (1);	0.107041	0.64402	D	0.000005	T	0.00815	0.0027	L	0.37750	1.13	0.49915	D	0.999832	B	0.13145	0.007	B	0.10450	0.005	T	0.48175	-0.9058	10	0.20046	T	0.44	-20.88	1.2418	0.01964	0.466:0.1602:0.2115:0.1623	.	1321	P11717	MPRI_HUMAN	N	1321	ENSP00000349437:K1321N	ENSP00000349437:K1321N	K	+	3	2	IGF2R	160405499	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	0.899000	0.28417	0.033000	0.15463	0.655000	0.94253	AAG		0.522	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		15	113	1	0	2.32078e-09	1	2.82054e-09	15	113				
HSPG2	3339	broad.mit.edu	37	1	22155933	22155933	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22155933A>G	ENST00000374695.3	-	87	12014	c.11935T>C	c.(11935-11937)Ttc>Ctc	p.F3979L	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3979	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGGGACACGAAGTCCTCCACA	0.642																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(11935-11937)Ttc>Ctc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						50.0	50.0	50.0					1																	22155933		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22155933A>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11935T>C	1.37:g.22155933A>G	ENSP00000363827:p.Phe3979Leu					HSPG2_ENST00000486901.1_5'UTR	p.F3979L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	87	12014	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3979			Laminin G-like 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.11935T>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967485	0.92855	.	.	ENSG00000142798	ENST00000374695	D	0.83163	-1.69	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.40640	N	0.001050	D	0.90967	0.7160	M	0.85373	2.75	0.38902	D	0.957345	D;D	0.89917	1.0;0.992	D;D	0.77557	0.99;0.987	D	0.92764	0.6226	10	0.72032	D	0.01	.	11.9642	0.53025	1.0:0.0:0.0:0.0	.	1919;3979	Q59EG0;P98160	.;PGBM_HUMAN	L	3979	ENSP00000363827:F3979L	ENSP00000363827:F3979L	F	-	1	0	HSPG2	22028520	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	8.153000	0.89640	1.855000	0.53841	0.379000	0.24179	TTC		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	46	0	0	0	1	0	3	46				
BMP1	649	broad.mit.edu	37	8	22052380	22052380	+	Silent	SNP	C	C	T	rs369743877		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22052380C>T	ENST00000306385.5	+	12	2257	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	BMP1_ENST00000397814.3_Silent_p.F529F|BMP1_ENST00000306349.8_Silent_p.F529F|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.F529F	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	529	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGCTCAAGTTCGTCTCTGACG	0.577																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1585-1587)ttC>ttT		bone morphogenetic protein 1		C	,	1,4405	2.1+/-5.4	0,1,2202	93.0	94.0	94.0		1587,1587	0.8	1.0	8		94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BMP1	NM_001199.3,NM_006129.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	529/731,529/987	22052380	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22052380C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1587C>T	8.37:g.22052380C>T						BMP1_ENST00000397816.3_Silent_p.F529F|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.F529F|BMP1_ENST00000306349.8_Silent_p.F529F	p.F529F	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	12	2257	+			529			CUB 2.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.1587C>T	CCDS6026.1																																																																																				0.577	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		34	38	0	0	0	1	0	34	38				
SLC35F4	341880	broad.mit.edu	37	14	58056066	58056066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056066G>T	ENST00000339762.6	-	3	562	c.563C>A	c.(562-564)aCt>aAt	p.T188N	SLC35F4_ENST00000554729.1_Missense_Mutation_p.T29N|SLC35F4_ENST00000556826.1_Missense_Mutation_p.T152N			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	188					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTATAAGTAATTTTTAC	0.398																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(454-456)aCt>aAt		solute carrier family 35, member F4							81.0	83.0	83.0					14																	58056066		1881	4109	5990	SO:0001583	missense	341880							g.chr14:58056066G>T			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.563C>A	14.37:g.58056066G>T	ENSP00000342518:p.Thr188Asn					SLC35F4_ENST00000339762.6_Missense_Mutation_p.T188N|SLC35F4_ENST00000554729.1_Missense_Mutation_p.T29N	p.T152N	NM_001206920.1	NP_001193849.1					3	691	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.455C>A		.	.	.	.	.	.	.	.	.	.	G	27.4	4.830490	0.91036	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.52057	0.72;0.68;0.78	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62011	-0.6944	10	0.42905	T	0.14	-18.475	20.3167	0.98654	0.0:0.0:1.0:0.0	.	188	A4IF30	S35F4_HUMAN	N	152;188;29	ENSP00000452086:T152N;ENSP00000342518:T188N;ENSP00000451990:T29N	ENSP00000342518:T188N	T	-	2	0	SLC35F4	57125819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.397000	0.97276	2.809000	0.96659	0.557000	0.71058	ACT		0.398	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		3	44	1	0	0.115264	1	0.117355	3	44				
DAAM1	23002	broad.mit.edu	37	14	59835392	59835392	+	Missense_Mutation	SNP	C	C	T	rs138713289		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59835392C>T	ENST00000395125.1	+	25	3075	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DAAM1_ENST00000351081.1_Missense_Mutation_p.R1018C|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1008C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1018					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAAGGGAACGTAAAATGAG	0.378																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(3052-3054)Cgt>Tgt		dishevelled associated activator of morphogenesis 1							96.0	93.0	94.0					14																	59835392		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59835392C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3052C>T	14.37:g.59835392C>T	ENSP00000378557:p.Arg1018Cys					DAAM1_ENST00000351081.1_Missense_Mutation_p.R1018C|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1008C|DAAM1_ENST00000553966.1_3'UTR	p.R1018C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	25	3075	+			1018					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.3052C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351421	0.61183	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.80909	-1.42;-1.43;-1.43	5.64	4.74	0.60224	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.976;0.982	D	0.92697	0.6171	10	0.87932	D	0	.	15.7936	0.78388	0.1372:0.8628:0.0:0.0	.	1008;1018	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	1008;1018;1018	ENSP00000354162:R1008C;ENSP00000247170:R1018C;ENSP00000378557:R1018C	ENSP00000247170:R1018C	R	+	1	0	DAAM1	58905145	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.442000	0.59988	1.347000	0.45714	0.655000	0.94253	CGT		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		4	19	0	0	0	1	0	4	19				
APBA2	321	broad.mit.edu	37	15	29385292	29385292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29385292G>A	ENST00000558402.1	+	8	1683	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	APBA2_ENST00000558259.1_Missense_Mutation_p.E362K|APBA2_ENST00000558330.1_Missense_Mutation_p.E362K|APBA2_ENST00000561069.1_Missense_Mutation_p.E362K|APBA2_ENST00000411764.1_Missense_Mutation_p.E362K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	362					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCCTGCGAACCAGAAGA	0.522																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1084-1086)Gaa>Aaa		amyloid beta (A4) precursor protein-binding, family A, member 2							115.0	105.0	108.0					15																	29385292		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29385292G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1084G>A	15.37:g.29385292G>A	ENSP00000453293:p.Glu362Lys					APBA2_ENST00000558259.1_Missense_Mutation_p.E362K|APBA2_ENST00000411764.1_Missense_Mutation_p.E362K|APBA2_ENST00000561069.1_Missense_Mutation_p.E362K|APBA2_ENST00000558330.1_Missense_Mutation_p.E362K	p.E362K			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	8	1683	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	362					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1084G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218799	0.79464	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.05649	3.41	4.71	4.71	0.59529	.	0.057408	0.64402	D	0.000002	T	0.16257	0.0391	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.67145	0.99;0.996;0.993;0.977	P;P;P;P	0.53861	0.591;0.736;0.557;0.475	T	0.00593	-1.1654	10	0.54805	T	0.06	.	17.0267	0.86448	0.0:0.0:1.0:0.0	.	362;66;362;362	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	K	362;362;66	ENSP00000409312:E362K	ENSP00000219865:E362K	E	+	1	0	APBA2	27172584	1.000000	0.71417	0.949000	0.38748	0.911000	0.54048	9.569000	0.98170	2.331000	0.79229	0.555000	0.69702	GAA		0.522	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		20	37	0	0	0	1	0	20	37				
CROCCP2	84809	broad.mit.edu	37	1	16945678	16945678	+	lincRNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16945678A>T	ENST00000412962.1	-	0	1841				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGCCTAGGAAATGTGCCCACT	0.612																																						ENST00000412962.1																			0																																																			0							g.chr1:16945678A>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945678A>T														0	1841	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		25	191	0	0	0	1	0	25	191				
DDX23	9416	broad.mit.edu	37	12	49230527	49230527	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49230527T>C	ENST00000308025.3	-	10	1140	c.1061A>G	c.(1060-1062)gAt>gGt	p.D354G	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	354					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCAATGACGATCATCCCAGCG	0.527																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1060-1062)gAt>gGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							180.0	171.0	174.0					12																	49230527		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230527T>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1061A>G	12.37:g.49230527T>C	ENSP00000310723:p.Asp354Gly						p.D354G	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			10	1140	-			354					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1061A>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789674	0.90367	.	.	ENSG00000174243	ENST00000308025	T	0.21031	2.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	M	0.75264	2.295	0.80722	D	1	P	0.51653	0.947	P	0.52856	0.711	T	0.21109	-1.0255	10	0.51188	T	0.08	-17.2723	15.1526	0.72713	0.0:0.0:0.0:1.0	.	354	Q9BUQ8	DDX23_HUMAN	G	354	ENSP00000310723:D354G	ENSP00000310723:D354G	D	-	2	0	DDX23	47516794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.839000	0.86812	2.224000	0.72417	0.459000	0.35465	GAT		0.527	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		12	151	0	0	0	1	0	12	151				
NQO2	4835	broad.mit.edu	37	6	3019874	3019874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3019874G>A	ENST00000338130.2	+	10	1393	c.681G>A	c.(679-681)tgG>tgA	p.W227*	NQO2_ENST00000380455.4_Nonsense_Mutation_p.W227*|NQO2_ENST00000380454.4_Nonsense_Mutation_p.W189*|RP1-90J20.12_ENST00000603222.1_lincRNA|NQO2_ENST00000380441.1_Nonsense_Mutation_p.W189*|NQO2_ENST00000380430.1_Nonsense_Mutation_p.W227*			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	227					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	CAGCCCACTGGCACTTCGGGC	0.552																																						ENST00000338130.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7						c.(679-681)tgG>tgA		NAD(P)H dehydrogenase, quinone 2	Menadione(DB00170)|NADH(DB00157)						48.0	43.0	45.0					6																	3019874		2203	4300	6503	SO:0001587	stop_gained	4835					cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity	g.chr6:3019874G>A	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.681G>A	6.37:g.3019874G>A	ENSP00000337773:p.Trp227*					NQO2_ENST00000380430.1_Nonsense_Mutation_p.W227*|NQO2_ENST00000380455.4_Nonsense_Mutation_p.W227*|NQO2_ENST00000380454.4_Nonsense_Mutation_p.W189*|NQO2_ENST00000380441.1_Nonsense_Mutation_p.W189*	p.W227*			P16083	NQO2_HUMAN			10	1393	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	227					B2R492|Q5TD04	Nonsense_Mutation	SNP	ENST00000338130.2	37	c.681G>A	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761639	0.69763	.	.	ENSG00000124588	ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	.	.	.	5.39	4.52	0.55395	.	0.404154	0.28641	N	0.014627	.	.	.	.	.	.	0.52501	D	0.999956	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.4727	11.282	0.49199	0.0841:0.0:0.9159:0.0	.	.	.	.	X	227;189;227;189;227	.	ENSP00000337773:W227X	W	+	3	0	NQO2	2964873	1.000000	0.71417	0.999000	0.59377	0.020000	0.10135	3.150000	0.50662	1.274000	0.44362	0.557000	0.71058	TGG		0.552	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			15	26	0	0	0	1	0	15	26				
FAT2	2196	broad.mit.edu	37	5	150922829	150922829	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150922829A>G	ENST00000261800.5	-	9	7871	c.7859T>C	c.(7858-7860)gTc>gCc	p.V2620A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2620	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTAGGTGACATCTGCGTT	0.463																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(7858-7860)gTc>gCc		FAT atypical cadherin 2							204.0	200.0	201.0					5																	150922829		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922829A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7859T>C	5.37:g.150922829A>G	ENSP00000261800:p.Val2620Ala						p.V2620A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7871	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2620			Cadherin 23.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7859T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.416061	0.62511	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000032	T	0.79907	0.4527	H	0.97635	4.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.87389	0.2362	10	0.87932	D	0	.	15.3622	0.74487	1.0:0.0:0.0:0.0	.	2620	Q9NYQ8	FAT2_HUMAN	A	2620	ENSP00000261800:V2620A	ENSP00000261800:V2620A	V	-	2	0	FAT2	150903022	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.262000	0.95591	2.028000	0.59812	0.379000	0.24179	GTC		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		15	165	0	0	0	1	0	15	165				
DNAJA1	3301	broad.mit.edu	37	9	33029970	33029970	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33029970T>G	ENST00000330899.4	+	4	581	c.398T>G	c.(397-399)aTt>aGt	p.I133S	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_De_novo_Start_InFrame	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	133					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AAGAATGTGATTTGTGACAAA	0.328																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(397-399)aTt>aGt		DnaJ (Hsp40) homolog, subfamily A, member 1							90.0	91.0	91.0					9																	33029970		2203	4299	6502	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33029970T>G	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.398T>G	9.37:g.33029970T>G	ENSP00000369127:p.Ile133Ser					DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_De_novo_Start_InFrame	p.I133S	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	4	581	+			133					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.398T>G	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416460	0.83449	.	.	ENSG00000086061	ENST00000330899	T	0.61392	0.11	5.16	5.16	0.70880	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (3);	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.88640	2.97	0.80722	D	1	P;D	0.58268	0.952;0.982	P;P	0.61328	0.781;0.887	T	0.81963	-0.0692	10	0.87932	D	0	-8.9164	13.2412	0.59997	0.0:0.0:0.0:1.0	.	133;133	Q86TL9;P31689	.;DNJA1_HUMAN	S	133	ENSP00000369127:I133S	ENSP00000369127:I133S	I	+	2	0	DNAJA1	33019970	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.946000	0.87746	2.086000	0.62901	0.379000	0.24179	ATT		0.328	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			4	71	0	0	0	1	0	4	71				
KSR1	8844	broad.mit.edu	37	17	25909752	25909752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25909752C>A	ENST00000319524.6	+	4	601	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	KSR1_ENST00000268763.6_Missense_Mutation_p.L64I|KSR1_ENST00000509603.2_Missense_Mutation_p.L201I|KSR1_ENST00000398988.3_Missense_Mutation_p.L64I			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	201					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACGGACACCCTCTCAGCAGC	0.667																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(190-192)Ctc>Atc		kinase suppressor of ras 1							35.0	41.0	39.0					17																	25909752		2041	4211	6252	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909752C>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.601C>A	17.37:g.25909752C>A	ENSP00000323178:p.Leu201Ile					KSR1_ENST00000509603.2_Missense_Mutation_p.L201I|KSR1_ENST00000319524.6_Missense_Mutation_p.L201I|KSR1_ENST00000268763.6_Missense_Mutation_p.L64I	p.L64I	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	5	635	+	Lung NSC(42;0.00836)		199					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.190C>A		.	.	.	.	.	.	.	.	.	.	C	1.945	-0.442594	0.04604	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00473	7.18;7.18;7.18	5.7	4.73	0.59995	.	0.515963	0.21979	N	0.066333	T	0.00328	0.0010	L	0.38531	1.155	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.45760	-0.9239	10	0.35671	T	0.21	.	4.9055	0.13797	0.1519:0.6252:0.0:0.2229	.	199	Q8IVT5	KSR1_HUMAN	I	201;201;64;64	ENSP00000323178:L201I;ENSP00000438795:L201I;ENSP00000268763:L64I	ENSP00000268763:L64I	L	+	1	0	KSR1	22933879	0.000000	0.05858	0.027000	0.17364	0.012000	0.07955	0.382000	0.20635	1.416000	0.47057	0.455000	0.32223	CTC		0.667	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		13	26	1	0	1.49906e-05	1	1.69169e-05	13	26				
VSTM2A	222008	broad.mit.edu	37	7	54612359	54612359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:54612359C>T	ENST00000407838.3	+	2	530	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	VSTM2A_ENST00000404951.1_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000302287.3_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402613.3_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402026.2_Nonsense_Mutation_p.Q41*	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	42	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GACCGAGGGGCAGAATGTGGA	0.592																																						ENST00000302287.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(124-126)Cag>Tag		V-set and transmembrane domain containing 2A							61.0	61.0	61.0					7																	54612359		2203	4300	6503	SO:0001587	stop_gained	222008					extracellular region		g.chr7:54612359C>T	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.124C>T	7.37:g.54612359C>T	ENSP00000384967:p.Gln42*					VSTM2A_ENST00000407838.3_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000404951.1_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402026.2_Nonsense_Mutation_p.Q41*|VSTM2A_ENST00000402613.3_Nonsense_Mutation_p.Q42*	p.Q42*			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		2	530	+			42			Ig-like V-type.		A4D2E9|B5MC94	Nonsense_Mutation	SNP	ENST00000407838.3	37	c.124C>T	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	C	40	7.966337	0.98585	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	.	.	.	5.45	5.45	0.79879	.	0.127087	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-8.2159	14.7595	0.69596	0.0:1.0:0.0:0.0	.	.	.	.	X	42;42;42;41;42	.	ENSP00000303108:Q42X	Q	+	1	0	VSTM2A	54579853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.912000	0.75753	2.553000	0.86117	0.542000	0.68232	CAG		0.592	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		10	54	0	0	0	1	0	10	54				
CLIP3	25999	broad.mit.edu	37	19	36509857	36509857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36509857G>A	ENST00000360535.4	-	9	1353	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	CLIP3_ENST00000593074.1_Missense_Mutation_p.R376W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	376					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGGGTCCGGGGTGTGGAG	0.617																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1126-1128)Cgg>Tgg		CAP-GLY domain containing linker protein 3							59.0	63.0	61.0					19																	36509857		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36509857G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1126C>T	19.37:g.36509857G>A	ENSP00000353732:p.Arg376Trp					CLIP3_ENST00000593074.1_Missense_Mutation_p.R376W|AC002116.7_ENST00000586962.1_RNA	p.R376W	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1353	-	Esophageal squamous(110;0.162)		376					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1126C>T	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820073	0.71028	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74737	-0.87	4.87	3.82	0.43975	Cytoskeleton-associated protein, Gly-rich domain (1);	0.054744	0.64402	D	0.000002	T	0.66858	0.2832	N	0.14661	0.345	0.50467	D	0.999879	D	0.69078	0.997	P	0.53593	0.73	T	0.71009	-0.4716	10	0.87932	D	0	-26.0622	10.1846	0.42988	0.0:0.0:0.6382:0.3618	.	376	Q96DZ5	CLIP3_HUMAN	W	376;258;352	ENSP00000353732:R376W	ENSP00000353732:R376W	R	-	1	2	CLIP3	41201697	0.993000	0.37304	0.995000	0.50966	0.894000	0.52154	2.481000	0.45215	1.270000	0.44297	0.650000	0.86243	CGG		0.617	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		30	40	0	0	0	1	0	30	40				
RCSD1	92241	broad.mit.edu	37	1	167666427	167666427	+	Missense_Mutation	SNP	C	C	T	rs148941543		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167666427C>T	ENST00000367854.3	+	6	897	c.566C>T	c.(565-567)gCg>gTg	p.A189V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A159V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	189					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GATTTCAGGGCGGTGGAGTCA	0.557																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(565-567)gCg>gTg		RCSD domain containing 1		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	77.0	73.0	74.0		566	2.4	0.9	1	dbSNP_134	74	0,8600		0,0,4300	no	missense	RCSD1	NM_052862.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	189/417	167666427	2,13004	2203	4300	6503	SO:0001583	missense	92241							g.chr1:167666427C>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.566C>T	1.37:g.167666427C>T	ENSP00000356828:p.Ala189Val					RCSD1_ENST00000537350.1_Missense_Mutation_p.A159V	p.A189V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN			6	897	+	all_hematologic(923;0.215)		189					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.566C>T	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884188	0.51908	4.54E-4	0.0	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.47528	0.84;0.84	5.44	2.37	0.29283	.	0.161621	0.38959	N	0.001517	T	0.06554	0.0168	N	0.16903	0.455	0.27011	N	0.964695	P;P	0.42248	0.774;0.774	B;B	0.29176	0.051;0.099	T	0.09729	-1.0661	9	0.14656	T	0.56	-12.6551	1.0887	0.01659	0.1652:0.4203:0.1609:0.2537	.	159;189	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	V	189;165;159	ENSP00000356828:A189V;ENSP00000439409:A159V	ENSP00000355291:A165V	A	+	2	0	RCSD1	165933051	0.627000	0.27129	0.866000	0.34008	0.303000	0.27691	0.426000	0.21363	1.258000	0.44101	0.585000	0.79938	GCG		0.557	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		41	37	0	0	0	1	0	41	37				
TNXB	7148	broad.mit.edu	37	6	32035474	32035474	+	Missense_Mutation	SNP	G	G	A	rs184875282	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32035474G>A	ENST00000375244.3	-	18	6709	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2170W			P22105	TENX_HUMAN	tenascin XB	2242	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R2170R(1)|p.R2257R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.652													G|||	3	0.000599042	0.0008	0.0029	5008	,	,		15106	0.0		0.0	False		,,,				2504	0.0					ENST00000375244.3																			2	Substitution - coding silent(2)	p.R2170R(1)|p.R2257R(1)	lung(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(6508-6510)Cgg>Tgg		tenascin XB							41.0	48.0	45.0					6																	32035474		1990	4150	6140	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32035474G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6508C>T	6.37:g.32035474G>A	ENSP00000364393:p.Arg2170Trp					TNXB_ENST00000375247.2_Missense_Mutation_p.R2170W	p.R2170W			P22105	TENX_HUMAN			18	6709	-			2242			Fibronectin type-III 14.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6508C>T		3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	G	14.46	2.540919	0.45280	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.73	3.84	0.44239	.	1.210850	0.05929	N	0.634838	T	0.06554	0.0168	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	P	0.55824	0.785	T	0.41270	-0.9518	10	0.59425	D	0.04	.	11.933	0.52857	0.0:0.1763:0.8237:0.0	.	2170	P22105-3	.	W	2170	ENSP00000364393:R2170W;ENSP00000364396:R2170W	ENSP00000364393:R2170W	R	-	1	2	TNXB	32143452	0.000000	0.05858	0.002000	0.10522	0.341000	0.28922	0.654000	0.24918	0.930000	0.37217	0.563000	0.77884	CGG		0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		13	17	0	0	0	1	0	13	17				
MUC17	140453	broad.mit.edu	37	7	100674976	100674976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100674976G>A	ENST00000306151.4	+	3	343	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGATGACCTCGATTGAGTCCA	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(277-279)tcG>tcA		mucin 17, cell surface associated							119.0	112.0	114.0					7																	100674976		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674976G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.279G>A	7.37:g.100674976G>A							p.S93S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	343	+	Lung NSC(181;0.136)|all_lung(186;0.182)		93			Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.279G>A	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		24	59	0	0	0	1	0	24	59				
MUC16	94025	broad.mit.edu	37	19	9086385	9086385	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086385T>C	ENST00000397910.4	-	1	5633	c.5430A>G	c.(5428-5430)aaA>aaG	p.K1810K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1810	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTTCTGAGTTTTTCTTTTC	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5428-5430)aaA>aaG		mucin 16, cell surface associated							170.0	165.0	166.0					19																	9086385		1911	4126	6037	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086385T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5430A>G	19.37:g.9086385T>C							p.K1810K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5633	-			1810			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.5430A>G	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	53	0	0	0	1	0	37	53				
PLP1	5354	broad.mit.edu	37	X	103040568	103040568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103040568C>T	ENST00000303958.2	+	2	208	c.62C>T	c.(61-63)gCc>gTc	p.A21V	PLP1_ENST00000361621.2_Missense_Mutation_p.A21V|PLP1_ENST00000418604.1_Missense_Mutation_p.A21V	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	21					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCCTGGTGGCCACTGGATTG	0.517																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(61-63)gCc>gTc		proteolipid protein 1							197.0	185.0	189.0					X																	103040568		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040568C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.62C>T	X.37:g.103040568C>T	ENSP00000305152:p.Ala21Val					PLP1_ENST00000303958.2_Missense_Mutation_p.A21V|PLP1_ENST00000361621.2_Missense_Mutation_p.A21V	p.A21V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			3	342	+			21					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.62C>T	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010546	0.93346	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99474	-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	M	0.64404	1.975	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.988	D;D;D	0.80764	0.983;0.994;0.931	D	0.99066	1.0832	10	0.87932	D	0	1.6997	15.3311	0.74212	0.0:1.0:0.0:0.0	.	21;21;21	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	V	21	ENSP00000403335:A21V;ENSP00000399913:A21V;ENSP00000409802:A21V;ENSP00000413931:A21V;ENSP00000393391:A21V;ENSP00000405750:A21V;ENSP00000391853:A21V;ENSP00000305152:A21V;ENSP00000354860:A21V	ENSP00000305152:A21V	A	+	2	0	PLP1	102927224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.210000	0.71456	0.600000	0.82982	GCC		0.517	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			89	129	0	0	0	1	0	89	129				
NCBP2L	392517	broad.mit.edu	37	X	107018362	107018362	+	5'Flank	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107018362C>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000315660.4_Missense_Mutation_p.Q96H|TSC22D3_ENST00000514426.1_Missense_Mutation_p.Q28H|TSC22D3_ENST00000372384.2_Missense_Mutation_p.Q96H|TSC22D3_ENST00000506081.1_Missense_Mutation_p.Q96H|TSC22D3_ENST00000372383.4_Missense_Mutation_p.Q96H			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						AGAGCATGGTCTGGTCGATGT	0.607																																						ENST00000372383.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(286-288)caG>caT		TSC22 domain family, member 3							164.0	110.0	129.0					X																	107018362		2203	4300	6503	SO:0001631	upstream_gene_variant	1831						sequence-specific DNA binding transcription factor activity	g.chrX:107018362C>A			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018362C>A	Exception_encountered					TSC22D3_ENST00000506081.1_Missense_Mutation_p.Q96H|TSC22D3_ENST00000315660.4_Missense_Mutation_p.Q96H|TSC22D3_ENST00000514426.1_Missense_Mutation_p.Q28H|TSC22D3_ENST00000372384.2_Missense_Mutation_p.Q96H	p.Q96H	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN			1	655	-			0			Leucine-zipper.			Missense_Mutation	SNP	ENST00000509000.2	37	c.288G>T		.	.	.	.	.	.	.	.	.	.	c	17.57	3.422464	0.62622	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000506081;ENST00000514426;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724	.	.	.	5.22	1.53	0.23141	.	0.073433	0.56097	N	0.000036	T	0.43700	0.1259	N	0.14661	0.345	0.35918	D	0.831606	D	0.64830	0.994	D	0.75484	0.986	T	0.47923	-0.9079	9	0.36615	T	0.2	-15.3997	5.9081	0.19012	0.0:0.6246:0.1362:0.2392	.	96	Q99576-3	.	H	96;96;96;75;96;28;96;96;96;96;96	.	ENSP00000314655:Q96H	Q	-	3	2	TSC22D3	106905018	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.845000	0.39279	-0.047000	0.13423	-0.171000	0.13296	CAG		0.607	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		9	97	1	0	1.12685e-05	1	1.27857e-05	9	97				
CELSR3	1951	broad.mit.edu	37	3	48685340	48685340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48685340C>T	ENST00000164024.4	-	20	7343	c.7063G>A	c.(7063-7065)Gat>Aat	p.D2355N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D2360N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2355					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCAGGCATCCTGGCCTCGA	0.647																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7078-7080)Gat>Aat		cadherin, EGF LAG seven-pass G-type receptor 3							110.0	119.0	116.0					3																	48685340		2203	4299	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685340C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7063G>A	3.37:g.48685340C>T	ENSP00000164024:p.Asp2355Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.D2355N	p.D2360N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7358	-			2355					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7078G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779568	0.31502	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69926	-0.44;-0.43	4.94	4.94	0.65067	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.55465	0.1922	N	0.22421	0.69	0.29574	N	0.849683	P;P	0.44521	0.664;0.837	B;P	0.47603	0.348;0.551	T	0.46665	-0.9175	9	0.15952	T	0.53	.	8.9157	0.35581	0.0:0.7547:0.1628:0.0825	.	2355;2425	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	2355;2360	ENSP00000164024:D2355N;ENSP00000445694:D2360N	ENSP00000164024:D2355N	D	-	1	0	CELSR3	48660344	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.427000	0.44740	2.459000	0.83118	0.462000	0.41574	GAT		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		50	87	0	0	0	1	0	50	87				
RPS6KB2	6199	broad.mit.edu	37	11	67200096	67200096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67200096G>T	ENST00000312629.5	+	6	528	c.483G>T	c.(481-483)gaG>gaT	p.E161D	RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCATCTGGAGCGAGAGGGCA	0.567																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(481-483)gaG>gaT		ribosomal protein S6 kinase, 70kDa, polypeptide 2							120.0	137.0	131.0					11																	67200096		2179	4267	6446	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67200096G>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.483G>T	11.37:g.67200096G>T	ENSP00000308413:p.Glu161Asp					RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	p.E161D	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		6	528	+			161			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.483G>T	CCDS41677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.638565|2.638565	0.47153|0.47153	.|.	.|.	ENSG00000175634|ENSG00000175634	ENST00000312629|ENST00000524814	T|.	0.66280|.	-0.2|.	5.43|5.43	2.54|2.54	0.30619|0.30619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41926|0.41926	0.1180|0.1180	N|N	0.16656|0.16656	0.425|0.425	0.80722|0.80722	D|D	1|1	B;B|.	0.20052|.	0.006;0.041|.	B;B|.	0.25405|.	0.024;0.06|.	T|T	0.39860|0.39860	-0.9593|-0.9593	10|6	0.45353|0.87932	T|D	0.12|0	.|.	9.0409|9.0409	0.36316|0.36316	0.2916:0.0:0.7084:0.0|0.2916:0.0:0.7084:0.0	.|.	161;161|.	Q9BRS0;Q9UBS0|.	.;KS6B2_HUMAN|.	D|I	161|112	ENSP00000308413:E161D|.	ENSP00000308413:E161D|ENSP00000431615:S112I	E|S	+|+	3|2	2|0	RPS6KB2|RPS6KB2	66956672|66956672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.404000|1.404000	0.34623|0.34623	0.678000|0.678000	0.31325|0.31325	0.561000|0.561000	0.74099|0.74099	GAG|AGC		0.567	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		8	75	1	0	5.18039e-06	1	5.91835e-06	8	75				
A2ML1	144568	broad.mit.edu	37	12	9013818	9013818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9013818A>G	ENST00000299698.7	+	28	3607	c.3427A>G	c.(3427-3429)Att>Gtt	p.I1143V	A2ML1_ENST00000539547.1_Missense_Mutation_p.I652V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTGGCTTACATTTTCTCCCT	0.478																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3427-3429)Att>Gtt		alpha-2-macroglobulin-like 1							154.0	153.0	153.0					12																	9013818		1938	4145	6083	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013818A>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3427A>G	12.37:g.9013818A>G	ENSP00000299698:p.Ile1143Val					A2ML1_ENST00000539547.1_Missense_Mutation_p.I652V	p.I1143V	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			28	3607	+			987						Missense_Mutation	SNP	ENST00000299698.7	37	c.3427A>G	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	5.832	0.337830	0.11013	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31510	1.49;1.49;1.49	4.12	1.7	0.24286	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.089744	0.46442	D	0.000289	T	0.06554	0.0168	N	0.00223	-1.815	0.22424	N	0.999115	B	0.02656	0.0	B	0.04013	0.001	T	0.32428	-0.9907	10	0.46703	T	0.11	.	6.1454	0.20283	0.7402:0.1659:0.0939:0.0	.	1143	A8K2U0	A2ML1_HUMAN	V	1143;1143;693;652	ENSP00000299698:I1143V;ENSP00000443174:I693V;ENSP00000438292:I652V	ENSP00000299698:I1143V	I	+	1	0	A2ML1	8905085	0.000000	0.05858	0.445000	0.26908	0.663000	0.39108	-0.212000	0.09319	0.696000	0.31696	0.460000	0.39030	ATT		0.478	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		12	105	0	0	0	1	0	12	105				
USP28	57646	broad.mit.edu	37	11	113698033	113698033	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113698033A>G	ENST00000003302.4	-	11	1177	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	USP28_ENST00000537706.1_Missense_Mutation_p.F370S|USP28_ENST00000260188.5_Missense_Mutation_p.F370S|USP28_ENST00000544967.1_Missense_Mutation_p.F78S|USP28_ENST00000545540.1_Missense_Mutation_p.F245S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	370	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATTAAACTCAAATCTTGAGAG	0.363																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1108-1110)tTt>tCt		ubiquitin specific peptidase 28							72.0	73.0	73.0					11																	113698033		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113698033A>G	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1109T>C	11.37:g.113698033A>G	ENSP00000003302:p.Phe370Ser					USP28_ENST00000260188.5_Missense_Mutation_p.F370S|USP28_ENST00000545540.1_Missense_Mutation_p.F245S|USP28_ENST00000544967.1_Missense_Mutation_p.F78S|USP28_ENST00000537706.1_Missense_Mutation_p.F370S	p.F370S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	11	1177	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	370					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1109T>C	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515778	0.85495	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.80185	-0.1487	10	0.87932	D	0	-24.0214	14.8539	0.70319	1.0:0.0:0.0:0.0	.	245;370;370;78	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	S	370;370;78;245;134;370	ENSP00000003302:F370S;ENSP00000260188:F370S;ENSP00000442431:F78S;ENSP00000444991:F245S;ENSP00000442257:F134S;ENSP00000445743:F370S	ENSP00000003302:F370S	F	-	2	0	USP28	113203243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.709000	0.91379	2.140000	0.66376	0.460000	0.39030	TTT		0.363	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			28	33	0	0	0	1	0	28	33				
ANP32D	23519	broad.mit.edu	37	12	48866754	48866754	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48866754C>A	ENST00000266594.1	+	1	307	c.307C>A	c.(307-309)Ctc>Atc	p.L103I		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	103						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AATTAAAGACCTCAGCACAAT	0.408																																						ENST00000266594.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(307-309)Ctc>Atc		acidic (leucine-rich) nuclear phosphoprotein 32 family, member D							83.0	85.0	84.0					12																	48866754		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866754C>A	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.307C>A	12.37:g.48866754C>A	ENSP00000266594:p.Leu103Ile						p.L103I	NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN			1	307	+			103					Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.307C>A	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375593	0.24857	.	.	ENSG00000139223	ENST00000266594	T	0.52295	0.67	1.55	-2.79	0.05841	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.31664	0.95	0.51233	D	0.999918	B	0.12013	0.005	B	0.26310	0.068	T	0.03840	-1.0999	10	0.17369	T	0.5	.	2.9167	0.05755	0.2283:0.4812:0.0:0.2905	.	103	O95626	AN32D_HUMAN	I	103	ENSP00000266594:L103I	ENSP00000266594:L103I	L	+	1	0	ANP32D	47153021	1.000000	0.71417	0.080000	0.20451	0.843000	0.47879	3.474000	0.53129	-0.218000	0.10018	0.388000	0.25769	CTC		0.408	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		27	37	1	0	9.90768e-06	1	1.12802e-05	27	37				
ZNF839	55778	broad.mit.edu	37	14	102805268	102805268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102805268G>A	ENST00000558850.1	+	6	1777	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	ZNF839_ENST00000442396.2_Missense_Mutation_p.S592N|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_Missense_Mutation_p.S476N|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000262236.5_Missense_Mutation_p.S476N	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	476							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGGAGCTAGCAGCGAGAAG	0.547																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1426-1428)aGc>aAc		zinc finger protein 839							82.0	89.0	86.0					14																	102805268		2092	4215	6307	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102805268G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1427G>A	14.37:g.102805268G>A	ENSP00000453363:p.Ser476Asn					ZNF839_ENST00000442396.2_Missense_Mutation_p.S592N|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Missense_Mutation_p.S476N|ZNF839_ENST00000558850.1_Missense_Mutation_p.S476N	p.S476N	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			6	1782	+			476					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.1427G>A	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631491	0.29068	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.20463	2.07;2.08	5.24	4.29	0.51040	.	1.223890	0.05287	N	0.520415	T	0.21227	0.0511	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.29037	0.062;0.144;0.231;0.144	B;B;B;B	0.30782	0.076;0.12;0.12;0.12	T	0.12344	-1.0551	10	0.46703	T	0.11	.	9.515	0.39100	0.0:0.1611:0.6921:0.1469	.	592;476;355;476	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	N	592;476;144;10	ENSP00000399863:S592N;ENSP00000262236:S476N	ENSP00000262236:S476N	S	+	2	0	ZNF839	101875021	0.002000	0.14202	0.004000	0.12327	0.008000	0.06430	1.226000	0.32563	2.441000	0.82636	0.558000	0.71614	AGC		0.547	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		3	29	0	0	0	1	0	3	29				
LRP6	4040	broad.mit.edu	37	12	12288148	12288148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12288148T>C	ENST00000261349.4	-	17	3770	c.3694A>G	c.(3694-3696)Atg>Gtg	p.M1232V	LRP6_ENST00000543091.1_Missense_Mutation_p.M1232V|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1232	EGF-like 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCAGGTGCATGGGGCAAGAA	0.423																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3694-3696)Atg>Gtg		low density lipoprotein receptor-related protein 6							190.0	159.0	169.0					12																	12288148		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12288148T>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3694A>G	12.37:g.12288148T>C	ENSP00000261349:p.Met1232Val					LRP6_ENST00000543091.1_Missense_Mutation_p.M1232V|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	p.M1232V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			17	3770	-		Prostate(47;0.0865)	1232			EGF-like 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3694A>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	1.232	-0.623899	0.03636	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95342	-3.68;-3.68	5.56	2.94	0.34122	Epidermal growth factor-like (1);	0.175328	0.39475	N	0.001352	T	0.80215	0.4582	N	0.01096	-1.015	0.39093	D	0.961145	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.72953	-0.4135	10	0.25106	T	0.35	.	8.1299	0.31020	0.0:0.2425:0.0:0.7575	.	1232;1232	F5H7J9;O75581	.;LRP6_HUMAN	V	1232	ENSP00000261349:M1232V;ENSP00000442472:M1232V	ENSP00000261349:M1232V	M	-	1	0	LRP6	12179415	0.963000	0.33076	1.000000	0.80357	0.987000	0.75469	1.968000	0.40500	1.045000	0.40225	-0.280000	0.10049	ATG		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			10	100	0	0	0	1	0	10	100				
ADAM18	8749	broad.mit.edu	37	8	39550173	39550173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550173G>A	ENST00000265707.5	+	17	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	ADAM18_ENST00000379866.1_Missense_Mutation_p.A602T|ADAM18_ENST00000541111.1_Missense_Mutation_p.A40T|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	626	EGF-like.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAACTGTAATGCCACCACAAA	0.303																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1876-1878)Gcc>Acc		ADAM metallopeptidase domain 18							94.0	97.0	96.0					8																	39550173		2203	4299	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39550173G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1876G>A	8.37:g.39550173G>A	ENSP00000265707:p.Ala626Thr					ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.A602T|ADAM18_ENST00000541111.1_Missense_Mutation_p.A40T	p.A626T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		17	1921	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	626			EGF-like.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1876G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	1.643	-0.516077	0.04200	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.89415	-2.51;-2.51;-2.51	3.81	2.93	0.34026	.	0.190207	0.25984	N	0.027043	D	0.83418	0.5250	L	0.49571	1.57	0.24727	N	0.993113	B;B	0.15719	0.014;0.008	B;B	0.20577	0.03;0.013	T	0.65915	-0.6052	10	0.15066	T	0.55	.	10.4838	0.44708	0.1041:0.0:0.8959:0.0	.	602;626	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	626;602;40	ENSP00000265707:A626T;ENSP00000369195:A602T;ENSP00000444729:A40T	ENSP00000265707:A626T	A	+	1	0	ADAM18	39669330	0.994000	0.37717	0.989000	0.46669	0.044000	0.14063	0.883000	0.28200	0.596000	0.29794	-1.644000	0.00765	GCC		0.303	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		23	35	0	0	0	1	0	23	35				
NEXN	91624	broad.mit.edu	37	1	78383379	78383379	+	Silent	SNP	C	C	T	rs371431782	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78383379C>T	ENST00000334785.7	+	3	340	c.156C>T	c.(154-156)gaC>gaT	p.D52D	NEXN_ENST00000294624.8_Silent_p.D52D|NEXN_ENST00000457030.1_Silent_p.D52D|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GATCTAGAGACGAAAAACAAA	0.353													c|||	3	0.000599042	0.0023	0.0	5008	,	,		15437	0.0		0.0	False		,,,				2504	0.0					ENST00000334785.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(154-156)gaC>gaT		nexilin (F actin binding protein)		T	,	9,3641		0,9,1816	66.0	61.0	62.0		,156	-4.8	0.9	1		62	0,8162		0,0,4081	no	intron,coding-synonymous	NEXN	NM_001172309.1,NM_144573.3	,	0,9,5897	TT,TC,CC		0.0,0.2466,0.0762	,	,52/676	78383379	9,11803	1825	4081	5906	SO:0001819	synonymous_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383379C>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.156C>T	1.37:g.78383379C>T						NEXN_ENST00000294624.8_Silent_p.D52D|NEXN_ENST00000457030.1_Silent_p.D52D|NEXN_ENST00000330010.8_Intron	p.D52D	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	3	340	+			52			Glu-rich.			Silent	SNP	ENST00000334785.7	37	c.156C>T	CCDS41351.1																																																																																				0.353	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		13	48	0	0	0	1	0	13	48				
MMP15	4324	broad.mit.edu	37	16	58076166	58076166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58076166G>A	ENST00000219271.3	+	7	1981	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	399					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CGGCACAACCGCGTCCTGGAC	0.637																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1195-1197)cGc>cAc		matrix metallopeptidase 15 (membrane-inserted)							71.0	65.0	67.0					16																	58076166		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58076166G>A	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1196G>A	16.37:g.58076166G>A	ENSP00000219271:p.Arg399His						p.R399H	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			7	1981	+			399			Hemopexin-like 1.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1196G>A	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509844	0.64522	.	.	ENSG00000102996	ENST00000219271	T	0.02916	4.11	5.34	3.06	0.35304	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.04227	0.0117	L	0.53671	1.685	0.58432	D	0.999994	P	0.37083	0.581	B	0.38428	0.273	T	0.46219	-0.9207	10	0.51188	T	0.08	.	9.7892	0.40695	0.0828:0.136:0.7813:0.0	.	399	P51511	MMP15_HUMAN	H	399	ENSP00000219271:R399H	ENSP00000219271:R399H	R	+	2	0	MMP15	56633667	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	5.712000	0.68407	1.076000	0.40961	0.491000	0.48974	CGC		0.637	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		15	32	0	0	0	1	0	15	32				
VAC14	55697	broad.mit.edu	37	16	70814781	70814781	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70814781G>A	ENST00000261776.5	-	9	1268	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	336					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGCTCGTCGTCCTCGGGGG	0.592																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1006-1008)gaC>gaT		Vac14 homolog (S. cerevisiae)							68.0	57.0	61.0					16																	70814781		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70814781G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1008C>T	16.37:g.70814781G>A							p.D336D	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			9	1268	-		Ovarian(137;0.0699)	336					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.1008C>T	CCDS10896.1																																																																																				0.592	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		9	33	0	0	0	1	0	9	33				
FAM208B	54906	broad.mit.edu	37	10	5791086	5791086	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5791086C>T	ENST00000328090.5	+	15	6327	c.5702C>T	c.(5701-5703)gCg>gTg	p.A1901V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1901																	TGGACTGCTGCGGTAAAGAAA	0.537																																						ENST00000328090.5																			0											c.(5701-5703)gCg>gTg		family with sequence similarity 208, member B							35.0	37.0	36.0					10																	5791086		1986	4157	6143	SO:0001583	missense	54906							g.chr10:5791086C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5702C>T	10.37:g.5791086C>T	ENSP00000328426:p.Ala1901Val						p.A1901V	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	6327	+			1901					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5702C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279964	0.40294	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04551	3.6	5.82	1.62	0.23740	.	0.818294	0.11014	N	0.609152	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49234	-0.8961	10	0.18276	T	0.48	.	4.7153	0.12893	0.0781:0.273:0.5014:0.1475	.	1901	Q5VWN6	F208B_HUMAN	V	1901;1096	ENSP00000328426:A1901V	ENSP00000328426:A1901V	A	+	2	0	C10orf18	5831092	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.075000	0.30716	0.347000	0.23924	-0.232000	0.12228	GCG		0.537	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		8	13	0	0	0	1	0	8	13				
SUSD2	56241	broad.mit.edu	37	22	24583574	24583574	+	Missense_Mutation	SNP	G	G	A	rs114116915	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24583574G>A	ENST00000358321.3	+	12	2188	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	643	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTCACCTACGATTCCTGGTT	0.632													G|||	3	0.000599042	0.0	0.0014	5008	,	,		14481	0.001		0.0	False		,,,				2504	0.001					ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1927-1929)Gat>Aat		sushi domain containing 2							172.0	132.0	146.0					22																	24583574		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583574G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1927G>A	22.37:g.24583574G>A	ENSP00000351075:p.Asp643Asn						p.D643N	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			12	2188	+			643			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1927G>A	CCDS13824.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.5	4.422806	0.83559	.	.	ENSG00000099994	ENST00000358321	T	0.22134	1.97	4.59	4.59	0.56863	von Willebrand factor, type D domain (1);	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.78916	2.43	0.44595	D	0.997564	D	0.89917	1.0	D	0.83275	0.996	T	0.43972	-0.9358	10	0.48119	T	0.1	-49.5629	13.3391	0.60535	0.0:0.0:1.0:0.0	.	643	Q9UGT4	SUSD2_HUMAN	N	643	ENSP00000351075:D643N	ENSP00000351075:D643N	D	+	1	0	SUSD2	22913574	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	8.256000	0.89848	2.274000	0.75844	0.555000	0.69702	GAT		0.632	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		22	26	0	0	0	1	0	22	26				
SLC12A9	56996	broad.mit.edu	37	7	100453411	100453411	+	Missense_Mutation	SNP	G	G	A	rs145345547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100453411G>A	ENST00000354161.3	+	4	525	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V134I|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V134I	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	134					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGCTGTGCCGTCTCCCTCCT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18273	0.0		0.001	False		,,,				2504	0.0					ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(400-402)Gtc>Atc		solute carrier family 12, member 9		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	159.0	136.0	144.0		400	3.2	1.0	7	dbSNP_134	144	0,8600		0,0,4300	no	missense	SLC12A9	NM_020246.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	134/915	100453411	1,13005	2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100453411G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.400G>A	7.37:g.100453411G>A	ENSP00000275730:p.Val134Ile					SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V134I|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V134I	p.V134I	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			4	525	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		134					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.400G>A	CCDS5707.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.64	2.596796	0.46318	2.27E-4	0.0	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000354161	D;D;D	0.98649	-5.05;-5.05;-5.05	4.08	3.18	0.36537	Amino acid permease domain (1);	0.150212	0.43110	N	0.000616	D	0.95300	0.8475	L	0.27053	0.805	0.32632	N	0.521822	B	0.06786	0.001	B	0.08055	0.003	D	0.94147	0.7402	10	0.59425	D	0.04	.	7.8404	0.29395	0.1182:0.0:0.8818:0.0	.	134	Q9BXP2	S12A9_HUMAN	I	134	ENSP00000443702:V134I;ENSP00000408301:V134I;ENSP00000275730:V134I	ENSP00000275730:V134I	V	+	1	0	SLC12A9	100291347	0.820000	0.29190	0.983000	0.44433	0.931000	0.56810	1.364000	0.34171	0.897000	0.36392	0.462000	0.41574	GTC		0.622	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		42	86	0	0	0	1	0	42	86				
POLR3E	55718	broad.mit.edu	37	16	22337275	22337275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22337275G>A	ENST00000299853.5	+	18	1709	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	POLR3E_ENST00000359210.4_Silent_p.A514A|POLR3E_ENST00000564209.1_Silent_p.A514A|POLR3E_ENST00000418581.2_Silent_p.A478A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	514					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		agcaggaggcggaggaggagC	0.716																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1540-1542)gcG>gcA		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							33.0	28.0	30.0					16																	22337275		2182	4277	6459	SO:0001819	synonymous_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22337275G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1542G>A	16.37:g.22337275G>A						POLR3E_ENST00000359210.4_Silent_p.A514A|POLR3E_ENST00000564209.1_Silent_p.A514A|POLR3E_ENST00000418581.2_Silent_p.A478A	p.A514A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	18	1709	+			514					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	ENST00000299853.5	37	c.1542G>A	CCDS10605.1																																																																																				0.716	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		4	2	0	0	0	1	0	4	2				
FMR1NB	158521	broad.mit.edu	37	X	147084731	147084731	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147084731T>A	ENST00000370467.3	+	2	362	c.288T>A	c.(286-288)taT>taA	p.Y96*		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	96						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCTCATATTTTGTGCTTG	0.353																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(286-288)taT>taA		fragile X mental retardation 1 neighbor							138.0	139.0	139.0					X																	147084731		2203	4300	6503	SO:0001587	stop_gained	158521					integral to membrane		g.chrX:147084731T>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.288T>A	X.37:g.147084731T>A	ENSP00000359498:p.Tyr96*						p.Y96*	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			2	362	+	Acute lymphoblastic leukemia(192;6.56e-05)		96					D3DWT3	Nonsense_Mutation	SNP	ENST00000370467.3	37	c.288T>A	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060816	0.55432	.	.	ENSG00000176988	ENST00000370467	.	.	.	4.79	0.977	0.19733	.	1.595120	0.03975	N	0.292448	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5026	0.22178	0.0:0.3172:0.0:0.6828	.	.	.	.	X	96	.	ENSP00000359498:Y96X	Y	+	3	2	FMR1NB	146892423	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.428000	0.06991	-0.093000	0.12396	-0.383000	0.06682	TAT		0.353	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		58	125	0	0	0	1	0	58	125				
PCK1	5105	broad.mit.edu	37	20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56138777G>A	ENST00000319441.4	+	6	1119	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_ENST00000535860.1_Missense_Mutation_p.A187T|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	319					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(955-957)Gca>Aca		phosphoenolpyruvate carboxykinase 1 (soluble)							153.0	131.0	139.0					20																	56138777		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138777G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.955G>A	20.37:g.56138777G>A	ENSP00000319814:p.Ala319Thr					PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.A187T	p.A319T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		6	1119	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		319					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.955G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	6.749	0.507033	0.12883	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.09723	2.95;2.95	5.27	-8.16	0.01061	Phosphoenolpyruvate carboxykinase, C-terminal (1);	1.025780	0.07719	N	0.943315	T	0.08268	0.0206	L	0.36672	1.1	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.37957	-0.9683	10	0.49607	T	0.09	-0.0135	12.2876	0.54800	0.081:0.1043:0.7397:0.0749	.	319	P35558	PCKGC_HUMAN	T	319;187	ENSP00000319814:A319T;ENSP00000444342:A187T	ENSP00000319814:A319T	A	+	1	0	PCK1	55572183	0.154000	0.22792	0.000000	0.03702	0.017000	0.09413	0.540000	0.23191	-1.288000	0.02378	-1.772000	0.00662	GCA		0.542	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			34	56	0	0	0	1	0	34	56				
ZNF589	51385	broad.mit.edu	37	3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	352					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(1054-1056)aGa>aTa		zinc finger protein 589							82.0	90.0	87.0					3																	48310236		2143	4272	6415	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48310236G>T	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.1055G>T	3.37:g.48310236G>T	ENSP00000346729:p.Arg352Ile					ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	p.R352I	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	1127	+			352					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.1055G>T	CCDS43085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.34|12.34	1.908846|1.908846	0.33721|0.33721	.|.	.|.	ENSG00000164048|ENSG00000164048	ENST00000296437|ENST00000354698	.|T	.|0.18502	.|2.21	1.07|1.07	1.07|1.07	0.20283|0.20283	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.31263	.|0.0791	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	.|D;B	.|0.71674	.|0.998;0.237	.|D;B	.|0.64877	.|0.93;0.15	.|T	.|0.14476	.|-1.0471	.|9	.|0.66056	.|D	.|0.02	.|.	3.3292|3.3292	0.07077|0.07077	0.2736:0.0:0.7264:0.0|0.2736:0.0:0.7264:0.0	.|.	.|349;352	.|Q86UQ0-2;Q86UQ0	.|.;ZN589_HUMAN	.|I	-1|352	.|ENSP00000346729:R352I	.|ENSP00000346729:R352I	.|R	+|+	.|2	.|0	ZNF589|ZNF589	48285240|48285240	0.000000|0.000000	0.05858|0.05858	0.961000|0.961000	0.40146|0.40146	0.351000|0.351000	0.29236|0.29236	0.665000|0.665000	0.25083|0.25083	0.903000|0.903000	0.36546|0.36546	0.313000|0.313000	0.20887|0.20887	.|AGA		0.478	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		37	64	1	0	1.07121e-22	1	1.41502e-22	37	64				
GLOD4	51031	broad.mit.edu	37	17	679034	679034	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:679034A>G	ENST00000301328.5	-	5	455	c.432T>C	c.(430-432)aaT>aaC	p.N144N	GLOD4_ENST00000536578.1_Silent_p.N120N|GLOD4_ENST00000301329.6_Silent_p.N129N			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	144						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCAGACTGCGATTCTGCAAAT	0.488																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(385-387)aaT>aaC		glyoxalase domain containing 4							87.0	85.0	86.0					17																	679034		2203	4300	6503	SO:0001819	synonymous_variant	51031					mitochondrion		g.chr17:679034A>G	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.432T>C	17.37:g.679034A>G						GLOD4_ENST00000301328.5_Silent_p.N144N|GLOD4_ENST00000536578.1_Silent_p.N120N	p.N129N	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	472	-			144					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.387T>C																																																																																					0.488	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		12	67	0	0	0	1	0	12	67				
RXRB	6257	broad.mit.edu	37	6	33164153	33164153	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33164153C>A	ENST00000374680.3	-	5	1205				RXRB_ENST00000374685.4_Intron|RXRB_ENST00000544186.1_Intron|RXRB_ENST00000413614.2_Missense_Mutation_p.G255C	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGAACAGACCTAGACTGCCT	0.582																																						ENST00000413614.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(763-765)Ggt>Tgt		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)																																			SO:0001627	intron_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33164153C>A	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.993+57G>T	6.37:g.33164153C>A						RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron|RXRB_ENST00000544186.1_Intron	p.G255C			P28702	RXRB_HUMAN			4	982	-			141					P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.763G>T	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502991	0.26949	.	.	ENSG00000204231	ENST00000413614	D	0.93307	-3.2	4.84	3.93	0.45458	.	.	.	.	.	D	0.83667	0.5304	.	.	.	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.12156	0.007;0.007	T	0.78391	-0.2222	8	0.87932	D	0	.	10.4939	0.44766	0.1922:0.8078:0.0:0.0	.	255;351	B7Z3E4;B7Z6J2	.;.	C	255	ENSP00000415561:G255C	ENSP00000415561:G255C	G	-	1	0	RXRB	33272131	0.001000	0.12720	0.033000	0.17914	0.388000	0.30384	1.040000	0.30278	2.527000	0.85204	0.549000	0.68633	GGT		0.582	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		7	101	1	0	0.000274275	1	0.000298791	7	101				
RUVBL1	8607	broad.mit.edu	37	3	127831743	127831743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127831743G>A	ENST00000322623.5	-	3	448	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	RUVBL1_ENST00000417360.1_Missense_Mutation_p.R117C|RUVBL1_ENST00000464873.1_Missense_Mutation_p.R57C	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	117					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.R117C(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGGCCCTGCGGAAGTTCTCC	0.512																																						ENST00000464873.1																			2	Substitution - Missense(2)	p.R117C(2)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(169-171)Cgc>Tgc		RuvB-like AAA ATPase 1							145.0	133.0	137.0					3																	127831743		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127831743G>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.349C>T	3.37:g.127831743G>A	ENSP00000318297:p.Arg117Cys					RUVBL1_ENST00000322623.5_Missense_Mutation_p.R117C|RUVBL1_ENST00000417360.1_Missense_Mutation_p.R117C	p.R57C			Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	3	919	-			117					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.169C>T	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111641	0.77210	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360	T;T;T	0.71341	-0.43;-0.56;-0.13	5.79	4.84	0.62591	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.045924	0.85682	D	0.000000	D	0.90256	0.6953	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.93586	0.6917	10	0.87932	D	0	-29.8555	16.0471	0.80727	0.0:0.0:0.8099:0.1901	.	117;117;57	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	C	57;117;117	ENSP00000420738:R57C;ENSP00000318297:R117C;ENSP00000393755:R117C	ENSP00000318297:R117C	R	-	1	0	RUVBL1	129314433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.321000	0.51999	2.735000	0.93741	0.591000	0.81541	CGC		0.512	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			30	40	0	0	0	1	0	30	40				
CNOT8	9337	broad.mit.edu	37	5	154250245	154250245	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250245C>A	ENST00000517876.1	+	5	812	c.336C>A	c.(334-336)tcC>tcA	p.S112S	CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000403027.2_Silent_p.S112S|CNOT8_ENST00000285896.6_Silent_p.S112S|CNOT8_ENST00000520671.1_Silent_p.S6S|CNOT8_ENST00000523698.1_Silent_p.S6S|CNOT8_ENST00000521450.1_Silent_p.S6S|CNOT8_ENST00000521583.1_Silent_p.S6S			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	112					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGATTCCATAGATCTCC	0.423																																					NSCLC(140;1804 1895 27149 29895 35312)	ENST00000517876.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(334-336)tcC>tcA		CCR4-NOT transcription complex, subunit 8							148.0	137.0	141.0					5																	154250245		2203	4300	6503	SO:0001819	synonymous_variant	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250245C>A	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.336C>A	5.37:g.154250245C>A						CNOT8_ENST00000520671.1_Silent_p.S6S|CNOT8_ENST00000403027.2_Silent_p.S112S|CNOT8_ENST00000521450.1_Silent_p.S6S|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Silent_p.S112S|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Silent_p.S6S|CNOT8_ENST00000523698.1_Silent_p.S6S	p.S112S			Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	812	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	112					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Silent	SNP	ENST00000517876.1	37	c.336C>A	CCDS4329.1																																																																																				0.423	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		5	114	1	0	3.59834e-05	1	4.01776e-05	5	114				
SLC35D3	340146	broad.mit.edu	37	6	137245552	137245552	+	Silent	SNP	G	G	A	rs376903042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137245552G>A	ENST00000331858.4	+	2	1134	c.969G>A	c.(967-969)gcG>gcA	p.A323A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	323					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GAGAGGAGGCGCAGCTAAGTG	0.622																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(967-969)gcG>gcA		solute carrier family 35, member D3							29.0	32.0	31.0					6																	137245552		2203	4300	6503	SO:0001819	synonymous_variant	340146				carbohydrate transport	integral to membrane		g.chr6:137245552G>A		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.969G>A	6.37:g.137245552G>A							p.A323A	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1134	+	Colorectal(23;0.24)		323					B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	c.969G>A	CCDS34544.1																																																																																				0.622	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		10	13	0	0	0	1	0	10	13				
DPP9	91039	broad.mit.edu	37	19	4682774	4682774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4682774G>T	ENST00000598800.1	-	21	2826	c.2321C>A	c.(2320-2322)cCt>cAt	p.P774H	DPP9_ENST00000594671.1_Missense_Mutation_p.P774H|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'Flank|DPP9_ENST00000262960.9_Missense_Mutation_p.P803H			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	774						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GTTGTTCTCAGGGACGTCCAT	0.647																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2407-2409)cCt>cAt		dipeptidyl-peptidase 9							66.0	77.0	73.0					19																	4682774		2131	4247	6378	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4682774G>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2321C>A	19.37:g.4682774G>T	ENSP00000469603:p.Pro774His					AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000598800.1_Missense_Mutation_p.P774H|DPP9_ENST00000594671.1_Missense_Mutation_p.P774H	p.P803H	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	20	2685	-		Hepatocellular(1079;0.137)	774					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.2408C>A		.	.	.	.	.	.	.	.	.	.	g	15.87	2.961355	0.53400	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.32988	1.43	3.29	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77316	-0.2633	10	0.87932	D	0	-12.4388	14.1304	0.65250	0.0:0.0:1.0:0.0	.	803	Q1ZZB8	.	H	882;744;803	ENSP00000262960:P803H	ENSP00000262960:P803H	P	-	2	0	DPP9	4633774	1.000000	0.71417	0.330000	0.25442	0.226000	0.24999	9.430000	0.97488	1.858000	0.53909	0.543000	0.68304	CCT		0.647	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			4	5	1	0	0.00909568	1	0.00947522	4	5				
GPR37	2861	broad.mit.edu	37	7	124404931	124404931	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404931A>C	ENST00000303921.2	-	1	750	c.100T>G	c.(100-102)Tcc>Gcc	p.S34A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	34					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGTTTCTGGACGCAGGGGCG	0.642																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(100-102)Tcc>Gcc		G protein-coupled receptor 37 (endothelin receptor type B-like)							21.0	22.0	22.0					7																	124404931		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404931A>C		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.100T>G	7.37:g.124404931A>C	ENSP00000306449:p.Ser34Ala						p.S34A	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	750	-			34					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.100T>G	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	1.396	-0.579413	0.03854	.	.	ENSG00000170775	ENST00000303921	T	0.09163	3.01	5.1	-4.64	0.03349	.	0.770574	0.12699	N	0.446526	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37888	-0.9686	10	0.27785	T	0.31	-6.1007	0.3062	0.00280	0.2302:0.2287:0.1922:0.349	.	34	O15354	GPR37_HUMAN	A	34	ENSP00000306449:S34A	ENSP00000306449:S34A	S	-	1	0	GPR37	124192167	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	-1.356000	0.02609	-0.489000	0.06716	-2.307000	0.00257	TCC		0.642	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		12	9	0	0	0	1	0	12	9				
UNC119B	84747	broad.mit.edu	37	12	121154477	121154477	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121154477C>T	ENST00000344651.4	+	3	445	c.405C>T	c.(403-405)agC>agT	p.S135S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	135					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGACATCAGCGCAGGACGTT	0.537																																						ENST00000344651.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(403-405)agC>agT		unc-119 homolog B (C. elegans)							348.0	317.0	327.0					12																	121154477		2203	4300	6503	SO:0001819	synonymous_variant	84747							g.chr12:121154477C>T		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.405C>T	12.37:g.121154477C>T							p.S135S	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN			3	445	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		135						Silent	SNP	ENST00000344651.4	37	c.405C>T	CCDS31914.1																																																																																				0.537	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		10	294	0	0	0	1	0	10	294				
ZBED4	9889	broad.mit.edu	37	22	50279546	50279546	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279546C>A	ENST00000216268.5	+	2	2713	c.2236C>A	c.(2236-2238)Ctc>Atc	p.L746I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	746						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTACCTGACCCTCACGGCCCA	0.577																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2236-2238)Ctc>Atc		zinc finger, BED-type containing 4							49.0	49.0	49.0					22																	50279546		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279546C>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2236C>A	22.37:g.50279546C>A	ENSP00000216268:p.Leu746Ile						p.L746I	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2713	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	746					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.2236C>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889981	0.72524	.	.	ENSG00000100426	ENST00000216268	T	0.23950	1.88	5.43	4.4	0.53042	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.63843	1.955	0.58432	D	0.999998	D	0.67145	0.996	P	0.61940	0.896	T	0.33979	-0.9847	10	0.33940	T	0.23	-18.9807	16.1267	0.81400	0.0:0.866:0.134:0.0	.	746	O75132	ZBED4_HUMAN	I	746	ENSP00000216268:L746I	ENSP00000216268:L746I	L	+	1	0	ZBED4	48665550	1.000000	0.71417	0.584000	0.28653	0.947000	0.59692	7.361000	0.79497	1.256000	0.44068	0.561000	0.74099	CTC		0.577	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	40	1	0	0.150653	1	0.152692	4	40				
TAB3	257397	broad.mit.edu	37	X	30872594	30872594	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30872594T>C	ENST00000378933.1	-	3	1365	c.1188A>G	c.(1186-1188)caA>caG	p.Q396Q	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Silent_p.Q396Q|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Silent_p.Q396Q|TAB3_ENST00000288422.2_Silent_p.Q396Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	396	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACAGTGAGTGTTGATTCCATG	0.413																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(1186-1188)caA>caG		TGF-beta activated kinase 1/MAP3K7 binding protein 3							269.0	222.0	238.0					X																	30872594		2202	4300	6502	SO:0001819	synonymous_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872594T>C	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1188A>G	X.37:g.30872594T>C						TAB3_ENST00000288422.2_Silent_p.Q396Q|TAB3_ENST00000378932.2_Silent_p.Q396Q|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Silent_p.Q396Q	p.Q396Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1365	-			396			Pro-rich.		A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	c.1188A>G	CCDS14226.1																																																																																				0.413	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		41	92	0	0	0	1	0	41	92				
DCLK3	85443	broad.mit.edu	37	3	36763110	36763110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36763110G>A	ENST00000416516.2	-	3	1983	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAAAATCAGCCAATTTCAA	0.408																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1492-1494)gCt>gTt		doublecortin-like kinase 3							132.0	128.0	129.0					3																	36763110		1910	4136	6046	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36763110G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1493C>T	3.37:g.36763110G>A	ENSP00000394484:p.Ala498Val					DCLK3_ENST00000498047.1_5'UTR	p.A498V	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			3	1983	-			498			Protein kinase.			Missense_Mutation	SNP	ENST00000416516.2	37	c.1493C>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700833	0.88924	.	.	ENSG00000163673	ENST00000416516	T	0.43688	0.94	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32671	N	0.005786	T	0.59059	0.2166	L	0.41356	1.27	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.60291	-0.7292	10	0.87932	D	0	.	19.6639	0.95886	0.0:0.0:1.0:0.0	.	498	Q9C098	DCLK3_HUMAN	V	498	ENSP00000394484:A498V	ENSP00000394484:A498V	A	-	2	0	DCLK3	36738114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.935000	0.70145	2.744000	0.94065	0.561000	0.74099	GCT		0.408	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		29	38	0	0	0	1	0	29	38				
FNTB	2342	broad.mit.edu	37	14	65472930	65472930	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65472930G>T	ENST00000246166.2	+	2	443				FNTB_ENST00000555742.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|MAX_ENST00000341653.2_Missense_Mutation_p.H82N|CHURC1-FNTB_ENST00000549987.1_Intron|RP11-840I19.5_ENST00000606934.1_RNA	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta						negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GATTAGCCATGGCAGAAAACA	0.368																																						ENST00000341653.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(244-246)Cat>Aat		MYC associated factor X							138.0	136.0	136.0					14																	65472930		2203	4300	6503	SO:0001627	intron_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65472930G>T		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.209+1899G>T	14.37:g.65472930G>T						FNTB_ENST00000555742.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|FNTB_ENST00000246166.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron	p.H82N	NM_197957.2	NP_932061.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	291	-			0			Leucine-zipper.		B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	c.244C>A	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	G	4.448	0.082947	0.08533	.	.	ENSG00000125952	ENST00000341653	D	0.96073	-3.9	3.78	0.773	0.18516	.	.	.	.	.	D	0.90021	0.6884	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.80828	-0.1208	8	0.59425	D	0.04	.	2.8894	0.05671	0.2628:0.0:0.4462:0.2911	.	82	A6NH73	.	N	82	ENSP00000342482:H82N	ENSP00000342482:H82N	H	-	1	0	MAX	64542683	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.212000	0.09319	0.142000	0.18901	0.563000	0.77884	CAT		0.368	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		17	122	1	0	4.7546e-09	1	5.74312e-09	17	122				
ZNF831	128611	broad.mit.edu	37	20	57767778	57767778	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767778G>T	ENST00000371030.2	+	1	1704	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	568							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGCGGTGGAGGACCTGCCAG	0.711																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1702-1704)gaG>gaT		zinc finger protein 831							9.0	11.0	10.0					20																	57767778		1919	4073	5992	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767778G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1704G>T	20.37:g.57767778G>T	ENSP00000360069:p.Glu568Asp						p.E568D	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1704	+	all_lung(29;0.0085)		568					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1704G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208959	0.39003	.	.	ENSG00000124203	ENST00000371030	T	0.21361	2.01	5.21	1.83	0.25207	.	.	.	.	.	T	0.17916	0.0430	M	0.62266	1.93	0.29539	N	0.852228	B	0.29936	0.262	B	0.24394	0.053	T	0.16541	-1.0399	9	0.23302	T	0.38	-17.2226	6.3873	0.21568	0.0961:0.0:0.398:0.506	.	568	Q5JPB2	ZN831_HUMAN	D	568	ENSP00000360069:E568D	ENSP00000360069:E568D	E	+	3	2	ZNF831	57201173	1.000000	0.71417	0.998000	0.56505	0.279000	0.26890	1.404000	0.34623	0.507000	0.28148	-0.345000	0.07892	GAG		0.711	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		11	8	1	0	0.000978159	1	0.00105116	11	8				
EPHX1	2052	broad.mit.edu	37	1	226026412	226026412	+	Missense_Mutation	SNP	C	C	T	rs373688139	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026412C>T	ENST00000366837.4	+	4	618	c.422C>T	c.(421-423)cCg>cTg	p.P141L	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.P141L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	141					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGCCATACCCCGAAGCCCTTG	0.602													C|||	3	0.000599042	0.0	0.0	5008	,	,		16679	0.0		0.0	False		,,,				2504	0.0031					ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(421-423)cCg>cTg		epoxide hydrolase 1, microsomal (xenobiotic)		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	88.0	97.0	94.0		422,422	4.7	0.0	1		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	141/456,141/456	226026412	1,13005	2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026412C>T	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.422C>T	1.37:g.226026412C>T	ENSP00000355802:p.Pro141Leu					EPHX1_ENST00000272167.5_Missense_Mutation_p.P141L	p.P141L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	618	+	Breast(184;0.197)		141					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.422C>T	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455789	0.26161	0.0	1.16E-4	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000366837	T;T;T	0.21031	2.03;2.03;2.03	5.83	4.73	0.59995	Epoxide hydrolase, N-terminal (1);	0.363134	0.30602	N	0.009265	T	0.25457	0.0619	M	0.64170	1.965	0.20074	N	0.999932	B	0.21452	0.056	B	0.26969	0.075	T	0.08638	-1.0712	10	0.30078	T	0.28	-12.249	15.8073	0.78524	0.0:0.9243:0.0:0.0757	.	141	P07099	HYEP_HUMAN	L	141	ENSP00000398491:P141L;ENSP00000272167:P141L;ENSP00000355802:P141L	ENSP00000272167:P141L	P	+	2	0	EPHX1	224093035	0.011000	0.17503	0.007000	0.13788	0.355000	0.29361	1.676000	0.37565	2.764000	0.94973	0.555000	0.69702	CCG		0.602	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		34	104	0	0	0	1	0	34	104				
ARHGEF10	9639	broad.mit.edu	37	8	1828318	1828318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1828318G>T	ENST00000398564.1	+	9	1023	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.K341N|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K316N|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K341N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	341					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGGCAGAAGCATGAACTGA	0.557																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(1021-1023)aaG>aaT		Rho guanine nucleotide exchange factor (GEF) 10							80.0	75.0	77.0					8																	1828318		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1828318G>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1023G>T	8.37:g.1828318G>T	ENSP00000381571:p.Lys341Asn					ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K341N|ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K316N|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K341N	p.K341N			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	10	1186	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	341					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.1023G>T		.	.	.	.	.	.	.	.	.	.	G	16.76	3.212156	0.58452	.	.	ENSG00000104728	ENST00000349830;ENST00000518288;ENST00000398564;ENST00000262112	T;T;T;T	0.60797	0.18;0.17;0.17;0.16	5.45	0.547	0.17202	.	0.296682	0.30419	N	0.009664	T	0.54902	0.1887	L	0.49126	1.545	0.80722	D	1	P	0.36412	0.552	P	0.46585	0.521	T	0.43393	-0.9394	10	0.30854	T	0.27	-27.7395	8.7343	0.34519	0.763:0.0:0.237:0.0	.	316	O15013-5	.	N	316;341;341;341	ENSP00000340297:K316N;ENSP00000431012:K341N;ENSP00000381571:K341N;ENSP00000262112:K341N	ENSP00000262112:K341N	K	+	3	2	ARHGEF10	1815725	1.000000	0.71417	0.078000	0.20375	0.949000	0.60115	0.921000	0.28718	-0.122000	0.11766	0.655000	0.94253	AAG		0.557	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				12	22	1	0	5.16669e-11	1	6.41398e-11	12	22				
DYNC2H1	79659	broad.mit.edu	37	11	103027235	103027235	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103027235C>G	ENST00000375735.2	+	26	4007	c.3863C>G	c.(3862-3864)aCt>aGt	p.T1288S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1288S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1288	Stem. {ECO:0000250}.		T -> A (in dbSNP:rs17301750).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAAAGTCGAACTATGAAGCTG	0.358																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(3862-3864)aCt>aGt		dynein, cytoplasmic 2, heavy chain 1							96.0	95.0	95.0					11																	103027235		1841	4093	5934	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027235C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3863C>G	11.37:g.103027235C>G	ENSP00000364887:p.Thr1288Ser					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1288S	p.T1288S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	4007	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1288		T -> A (in dbSNP:rs17301750).	Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.3863C>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.090033	0.07053	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60424	0.19;0.19	5.27	1.81	0.25067	Dynein heavy chain, domain-2 (1);	0.981166	0.08306	N	0.966220	T	0.40767	0.1130	L	0.33485	1.01	0.21445	N	0.999681	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.27262	-1.0079	10	0.09338	T	0.73	.	6.4369	0.21829	0.2473:0.574:0.1087:0.0701	.	1288;1288	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	1288	ENSP00000364887:T1288S;ENSP00000381167:T1288S	ENSP00000364887:T1288S	T	+	2	0	DYNC2H1	102532445	0.715000	0.27946	0.984000	0.44739	0.990000	0.78478	1.376000	0.34306	0.550000	0.28991	0.563000	0.77884	ACT		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		8	69	0	0	0	1	0	8	69				
FAM83D	81610	broad.mit.edu	37	20	37576543	37576543	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37576543G>A	ENST00000217429.4	+	3	807	c.766G>A	c.(766-768)Gga>Aga	p.G256R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	226					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACTATCACAGGAAATATCTA	0.428																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(766-768)Gga>Aga		family with sequence similarity 83, member D							138.0	130.0	132.0					20																	37576543		1928	4130	6058	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576543G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.766G>A	20.37:g.37576543G>A	ENSP00000217429:p.Gly256Arg						p.G256R	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			3	807	+		Myeloproliferative disorder(115;0.00878)	226					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.766G>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310731	0.95629	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.51817	0.69	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80781	-0.1229	10	0.87932	D	0	.	20.4702	0.99162	0.0:0.0:1.0:0.0	.	226	Q9H4H8	FA83D_HUMAN	R	256;210	ENSP00000217429:G256R	ENSP00000217429:G256R	G	+	1	0	FAM83D	37009957	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	9.441000	0.97557	2.937000	0.99478	0.650000	0.86243	GGA		0.428	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			4	143	0	0	0	1	0	4	143				
SLFN12L	100506736	broad.mit.edu	37	17	33806684	33806684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806684G>A	ENST00000260908.7	-	2	662	c.545C>T	c.(544-546)gCa>gTa	p.A182V	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.A213V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A211V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	182						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GGCCCTTTTTGCAGGGAATTC	0.403																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(544-546)gCa>gTa		schlafen family member 12-like							65.0	49.0	54.0					17																	33806684		692	1591	2283	SO:0001583	missense	100506736					integral to membrane	ATP binding	g.chr17:33806684G>A	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.545C>T	17.37:g.33806684G>A	ENSP00000437635:p.Ala182Val					SLFN12L_ENST00000449046.1_Missense_Mutation_p.A213V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A211V	p.A182V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			2	662	-			214					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.545C>T	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	G	4.935	0.173760	0.09391	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.03860	3.79;3.89;3.78	2.62	0.373	0.16178	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45469	-0.9259	9	0.36615	T	0.2	.	3.4008	0.07323	0.1511:0.0:0.6021:0.2468	.	211	Q6IEE8-2	.	V	182;211;213	ENSP00000437635:A182V;ENSP00000354412:A211V;ENSP00000389348:A213V	ENSP00000437635:A182V	A	-	2	0	SLFN12L	30830797	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.784000	0.04633	-0.006000	0.14370	0.411000	0.27672	GCA		0.403	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		3	18	0	0	0	1	0	3	18				
ADAR	103	broad.mit.edu	37	1	154574233	154574233	+	Silent	SNP	G	G	A	rs368050952		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154574233G>A	ENST00000368474.4	-	2	1084	c.885C>T	c.(883-885)gaC>gaT	p.D295D	ADAR_ENST00000292205.5_Silent_p.D338D|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	295					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTCGGCCATGTCTAAAAACT	0.478																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(883-885)gaC>gaT		adenosine deaminase, RNA-specific		G	,,,,	0,4406		0,0,2203	120.0	125.0	123.0		,885,,885,885	0.3	1.0	1		123	2,8598	2.2+/-6.3	0,2,4298	no	utr-5,coding-synonymous,utr-5,coding-synonymous,coding-synonymous	ADAR	NM_001025107.2,NM_001111.4,NM_001193495.1,NM_015840.3,NM_015841.3	,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,	,295/1227,,295/1201,295/1182	154574233	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574233G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.885C>T	1.37:g.154574233G>A						ADAR_ENST00000292205.5_Silent_p.D338D|ADAR_ENST00000368471.3_5'UTR	p.D295D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1084	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		295					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.885C>T	CCDS1071.1																																																																																				0.478	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		8	151	0	0	0	1	0	8	151				
MAT2A	4144	broad.mit.edu	37	2	85769031	85769031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85769031C>T	ENST00000306434.3	+	5	608	c.485C>T	c.(484-486)gCc>gTc	p.A162V	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.A99V	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	162					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGCTAAATGCCAAACTGGCA	0.418																																						ENST00000306434.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(484-486)gCc>gTc		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						118.0	97.0	104.0					2																	85769031		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85769031C>T		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.485C>T	2.37:g.85769031C>T	ENSP00000303147:p.Ala162Val					MAT2A_ENST00000409017.1_Missense_Mutation_p.A99V|MAT2A_ENST00000490878.1_3'UTR	p.A162V	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN			5	608	+			162					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.485C>T	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300528	0.60195	.	.	ENSG00000168906	ENST00000306434;ENST00000409017	D;D	0.82803	-1.65;-1.65	5.89	5.01	0.66863	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.099707	0.64402	D	0.000002	D	0.84575	0.5502	M	0.86268	2.805	0.58432	D	0.999999	B;B	0.15141	0.012;0.012	B;B	0.14578	0.011;0.011	T	0.82259	-0.0546	10	0.51188	T	0.08	-39.9032	14.1692	0.65497	0.1511:0.8489:0.0:0.0	.	162;162	B4DEX8;P31153	.;METK2_HUMAN	V	162;99	ENSP00000303147:A162V;ENSP00000386353:A99V	ENSP00000303147:A162V	A	+	2	0	MAT2A	85622542	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.487000	0.81328	1.483000	0.48342	-0.311000	0.09066	GCC		0.418	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		40	58	0	0	0	1	0	40	58				
ABL1	25	broad.mit.edu	37	9	133761036	133761036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133761036C>T	ENST00000318560.5	+	11	3740	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1120	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTCCTCAGTTCGGTGAAGGAA	0.587			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(3358-3360)tCg>tTg		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						25.0	28.0	27.0					9																	133761036		2201	4300	6501	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133761036C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3359C>T	9.37:g.133761036C>T	ENSP00000323315:p.Ser1120Leu						p.S1120L	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3740	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1120			F-actin-binding.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.3359C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605041	0.87157	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.34667	1.35;1.35	5.26	5.26	0.73747	F-actin binding (2);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.55088	-0.8195	10	0.49607	T	0.09	.	17.8543	0.88758	0.0:1.0:0.0:0.0	.	1120;1157	P00519;Q59FK4	ABL1_HUMAN;.	L	935;1139;1120	ENSP00000361423:S1139L;ENSP00000323315:S1120L	ENSP00000323315:S1120L	S	+	2	0	ABL1	132750857	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	6.030000	0.70903	2.457000	0.83068	0.555000	0.69702	TCG		0.587	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		12	12	0	0	0	1	0	12	12				
ZNF217	7764	broad.mit.edu	37	20	52198934	52198934	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198934C>A	ENST00000371471.2	-	2	857	c.432G>T	c.(430-432)gaG>gaT	p.E144D	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.E144D			O75362	ZN217_HUMAN	zinc finger protein 217	144					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCATGTGGATCTCAACATCAA	0.423																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(430-432)gaG>gaT		zinc finger protein 217							151.0	138.0	143.0					20																	52198934		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198934C>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.432G>T	20.37:g.52198934C>A	ENSP00000360526:p.Glu144Asp					ZNF217_ENST00000302342.3_Missense_Mutation_p.E144D	p.E144D			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	857	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		144					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.432G>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120263	0.56613	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.54279	0.58;0.58	5.79	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.127645	0.52532	D	0.000080	T	0.47911	0.1471	N	0.16066	0.365	0.34383	D	0.693277	D	0.76494	0.999	D	0.74348	0.983	T	0.55231	-0.8173	10	0.16420	T	0.52	-52.4299	6.1842	0.20488	0.1403:0.6524:0.1353:0.072	.	144	O75362	ZN217_HUMAN	D	144	ENSP00000360526:E144D;ENSP00000304308:E144D	ENSP00000304308:E144D	E	-	3	2	ZNF217	51632341	0.584000	0.26766	0.082000	0.20525	0.986000	0.74619	1.151000	0.31651	1.429000	0.47314	0.655000	0.94253	GAG		0.423	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		20	186	1	0	3.5997e-14	1	4.58862e-14	20	186				
KATNBL1	79768	broad.mit.edu	37	15	34445073	34445073	+	Missense_Mutation	SNP	C	C	T	rs369374470		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34445073C>T	ENST00000256544.3	-	4	498	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	119						nucleolus (GO:0005730)											CAAATATGTTCGACTATCATG	0.413																																						ENST00000256544.3																			0											c.(355-357)cGa>cAa		katanin p80 subunit B-like 1							77.0	77.0	77.0					15																	34445073		2201	4298	6499	SO:0001583	missense	79768							g.chr15:34445073C>T	AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.356G>A	15.37:g.34445073C>T	ENSP00000256544:p.Arg119Gln						p.R119Q	NM_024713.2	NP_078989.1					4	498	-								A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	c.356G>A	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603444	0.66445	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.47	5.47	0.80525	.	0.224065	0.47455	D	0.000225	T	0.58148	0.2102	L	0.32530	0.975	0.53005	D	0.999962	D	0.71674	0.998	P	0.52066	0.689	T	0.51172	-0.8739	9	0.19147	T	0.46	.	19.325	0.94258	0.0:1.0:0.0:0.0	.	119	Q9H079	CO029_HUMAN	Q	119;23	.	ENSP00000256544:R119Q	R	-	2	0	C15orf29	32232365	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	3.609000	0.54117	2.572000	0.86782	0.655000	0.94253	CGA		0.413	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		7	104	0	0	0	1	0	7	104				
TRPM4	54795	broad.mit.edu	37	19	49671579	49671579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49671579C>T	ENST00000252826.5	+	5	637	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R171W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	171					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGTGGCTGTACGGGACCATCA	0.637																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(511-513)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 4							87.0	90.0	89.0					19																	49671579		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671579C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.511C>T	19.37:g.49671579C>T	ENSP00000252826:p.Arg171Trp					TRPM4_ENST00000427978.2_Missense_Mutation_p.R171W|TRPM4_ENST00000355712.5_Intron	p.R171W	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	5	637	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	171					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.511C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218502	0.58560	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.04862	3.54;3.54	5.1	0.00702	0.14069	.	0.000000	0.64402	D	0.000002	T	0.24198	0.0586	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.985;0.995	T	0.05068	-1.0908	10	0.87932	D	0	-30.2462	15.2168	0.73274	0.7447:0.2553:0.0:0.0	.	171;171	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	W	171	ENSP00000252826:R171W;ENSP00000407492:R171W	ENSP00000252826:R171W	R	+	1	2	TRPM4	54363391	0.974000	0.33945	0.968000	0.41197	0.359000	0.29487	0.233000	0.17911	-0.065000	0.13021	-0.500000	0.04577	CGG		0.637	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		45	60	0	0	0	1	0	45	60				
PLCD1	5333	broad.mit.edu	37	3	38049554	38049554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049554C>A	ENST00000334661.4	-	14	2358	c.2136G>T	c.(2134-2136)aaG>aaT	p.K712N	PLCD1_ENST00000463876.1_Missense_Mutation_p.K733N	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	712	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGAAGTCATTCTTGGAGGAGG	0.542																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(2197-2199)aaG>aaT		phospholipase C, delta 1							117.0	103.0	108.0					3																	38049554		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38049554C>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2136G>T	3.37:g.38049554C>A	ENSP00000335600:p.Lys712Asn					PLCD1_ENST00000334661.4_Missense_Mutation_p.K712N	p.K733N	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	14	2552	-			712					B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.2199G>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	9.193	1.026501	0.19512	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.70516	-0.49;-0.49	5.11	3.32	0.38043	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.411993	0.29508	N	0.011950	T	0.67608	0.2911	M	0.63169	1.94	0.40858	D	0.983816	P;B	0.47034	0.889;0.108	P;B	0.48425	0.577;0.149	T	0.62895	-0.6757	10	0.15952	T	0.53	.	6.8648	0.24088	0.0:0.6999:0.144:0.1561	.	712;733	P51178;B3KR14	PLCD1_HUMAN;.	N	733;712	ENSP00000430344:K733N;ENSP00000335600:K712N	ENSP00000335600:K712N	K	-	3	2	PLCD1	38024558	0.980000	0.34600	1.000000	0.80357	0.348000	0.29142	0.217000	0.17603	0.681000	0.31386	-0.136000	0.14681	AAG		0.542	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			21	31	1	0	6.21321e-17	1	8.03594e-17	21	31				
CACNA1D	776	broad.mit.edu	37	3	53845162	53845162	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53845162G>A	ENST00000350061.5	+	48	6726	c.6215G>A	c.(6214-6216)gGa>gAa	p.G2072E	CACNA1D_ENST00000288139.4_Missense_Mutation_p.G2092E|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G2048E	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2072					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGGCTTGGGACGCTATGCA	0.517																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(6274-6276)gGa>gAa		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						97.0	95.0	96.0					3																	53845162		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53845162G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6215G>A	3.37:g.53845162G>A	ENSP00000288133:p.Gly2072Glu					CACNA1D_ENST00000350061.5_Missense_Mutation_p.G2072E|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G2048E	p.G2092E	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	49	6393	+			2072					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.6275G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096876	0.76870	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.39	5.39	0.77823	.	0.343803	0.25469	N	0.030447	D	0.84042	0.5385	M	0.71920	2.185	0.80722	D	1	D;P;D;D	0.76494	0.999;0.691;0.991;0.999	D;B;D;D	0.72625	0.952;0.259;0.917;0.978	D	0.84987	0.0892	10	0.72032	D	0.01	.	19.5276	0.95213	0.0:0.0:1.0:0.0	.	2048;1765;2072;2092	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	E	2072;2092;2048;1765	ENSP00000288133:G2072E;ENSP00000288139:G2092E;ENSP00000409174:G2048E;ENSP00000418014:G1765E	ENSP00000288139:G2092E	G	+	2	0	CACNA1D	53820202	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.892000	0.87324	2.710000	0.92621	0.655000	0.94253	GGA		0.517	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		21	41	0	0	0	1	0	21	41				
OR13F1	138805	broad.mit.edu	37	9	107267193	107267193	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107267193C>A	ENST00000334726.2	+	1	739	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTGTATCTCTTATGCATTT	0.458																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(649-651)tCt>tAt		olfactory receptor, family 13, subfamily F, member 1							286.0	254.0	265.0					9																	107267193		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267193C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.650C>A	9.37:g.107267193C>A	ENSP00000334452:p.Ser217Tyr						p.S217Y	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	739	+			217					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.650C>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615817	0.46631	.	.	ENSG00000186881	ENST00000334726	T	0.46063	0.88	4.3	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	T	0.75265	0.3826	H	0.98370	4.215	0.33111	D	0.540529	D	0.89917	1.0	D	0.97110	1.0	D	0.85435	0.1151	10	0.87932	D	0	.	10.4374	0.44443	0.0:0.9034:0.0:0.0966	.	217	Q8NGS4	O13F1_HUMAN	Y	217	ENSP00000334452:S217Y	ENSP00000334452:S217Y	S	+	2	0	OR13F1	106307014	1.000000	0.71417	0.758000	0.31321	0.741000	0.42261	4.493000	0.60341	1.403000	0.46800	0.655000	0.94253	TCT		0.458	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			17	195	1	0	1.99824e-07	1	2.35189e-07	17	195				
CASZ1	54897	broad.mit.edu	37	1	10720038	10720038	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10720038T>C	ENST00000377022.3	-	6	1378	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.E354G	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	354					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGGCTGCCCTCCCCGGGTTT	0.642																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1060-1062)gAg>gGg		castor zinc finger 1							56.0	60.0	59.0					1																	10720038		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720038T>C	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1061A>G	1.37:g.10720038T>C	ENSP00000366221:p.Glu354Gly					CASZ1_ENST00000344008.5_Missense_Mutation_p.E354G	p.E354G	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1378	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	354					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1061A>G	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	t	17.50	3.404605	0.62288	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.32530	0.975	0.43088	D	0.994759	D;D;D;D	0.89917	0.993;0.998;0.998;1.0	P;D;D;D	0.80764	0.852;0.969;0.969;0.994	T	0.68526	-0.5385	9	0.54805	T	0.06	-29.504	14.074	0.64877	0.0:0.0:0.0:1.0	.	378;354;354;354	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	G	354	.	ENSP00000339445:E354G	E	-	2	0	CASZ1	10642625	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.381000	0.79718	1.805000	0.52779	0.255000	0.18592	GAG		0.642	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		8	86	0	0	0	1	0	8	86				
CACNA1B	774	broad.mit.edu	37	9	140811789	140811789	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140811789A>C	ENST00000371372.1	+	6	1017	c.872A>C	c.(871-873)aAc>aCc	p.N291T	CACNA1B_ENST00000371355.4_Missense_Mutation_p.N291T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N291T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	291					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGACCCAACTTTGGCATC	0.582																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(871-873)aAc>aCc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						137.0	152.0	147.0					9																	140811789		2163	4277	6440	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140811789A>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.872A>C	9.37:g.140811789A>C	ENSP00000360423:p.Asn291Thr					CACNA1B_ENST00000277551.2_Missense_Mutation_p.N291T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N291T	p.N291T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	6	1017	+	all_cancers(76;0.166)		291					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.872A>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257439	0.59321	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99107	1.0845	10	0.62326	D	0.03	.	14.7416	0.69461	1.0:0.0:0.0:0.0	.	291	B1AQK6	.	T	291	ENSP00000360423:N291T;ENSP00000277551:N291T;ENSP00000360414:N291T;ENSP00000360408:N291T;ENSP00000360406:N291T	ENSP00000277551:N291T	N	+	2	0	CACNA1B	139931610	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.111000	0.94308	1.935000	0.56089	0.533000	0.62120	AAC		0.582	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		36	64	0	0	0	1	0	36	64				
ARHGAP35	2909	broad.mit.edu	37	19	47423806	47423806	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47423806A>T	ENST00000404338.3	+	1	1874	c.1874A>T	c.(1873-1875)aAg>aTg	p.K625M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	625					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AATGATGACAAGTATGTGATA	0.453																																						ENST00000404338.3																			0											c.(1873-1875)aAg>aTg		Rho GTPase activating protein 35							139.0	136.0	137.0					19																	47423806		1895	4118	6013	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423806A>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1874A>T	19.37:g.47423806A>T	ENSP00000385720:p.Lys625Met						p.K625M	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	1874	+			625					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1874A>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112464	0.56398	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08193	3.12	5.95	5.95	0.96441	.	0.099589	0.64402	D	0.000002	T	0.13756	0.0333	N	0.22421	0.69	0.48135	D	0.999594	D	0.54601	0.967	P	0.55161	0.77	T	0.01591	-1.1317	10	0.87932	D	0	-37.4581	15.4063	0.74881	1.0:0.0:0.0:0.0	.	625	Q9NRY4-2	.	M	625	ENSP00000385720:K625M	ENSP00000324820:K625M	K	+	2	0	ARHGAP35	52115646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.980000	0.63812	2.279000	0.76181	0.533000	0.62120	AAG		0.453	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		8	140	0	0	0	1	0	8	140				
CUBN	8029	broad.mit.edu	37	10	17083137	17083137	+	Silent	SNP	C	C	T	rs139281325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17083137C>T	ENST00000377833.4	-	27	3977	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1304	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTGCAATGCTGATTTTCAG	0.393																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3910-3912)caG>caA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C		1,4405	2.1+/-5.4	0,1,2202	225.0	213.0	217.0		3912	3.0	0.8	10	dbSNP_134	217	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1304/3624	17083137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17083137C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3912G>A	10.37:g.17083137C>T							p.Q1304Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			27	3977	-			1304			CUB 8.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.3912G>A	CCDS7113.1																																																																																				0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	144	0	0	0	1	0	15	144				
GDF5	8200	broad.mit.edu	37	20	34022013	34022013	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34022013G>A	ENST00000374372.1	-	4	1703	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	GDF5_ENST00000374369.3_Silent_p.C400C|GDF5OS_ENST00000374375.1_Silent_p.L19L			P43026	GDF5_HUMAN	growth differentiation factor 5	400			C -> Y (in AMDG). {ECO:0000269|PubMed:9288098}.		cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTTCCGACTGCAGCGAGCCT	0.612																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(1198-1200)tgC>tgT		growth differentiation factor 5							109.0	100.0	103.0					20																	34022013		2203	4300	6503	SO:0001819	synonymous_variant	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022013G>A	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1200C>T	20.37:g.34022013G>A						GDF5_ENST00000374369.3_Silent_p.C400C|GDF5OS_ENST00000374375.1_Silent_p.L19L	p.C400C			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		4	1703	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		400		C -> Y (in AMDG).			E1P5Q2|Q96SB1	Silent	SNP	ENST00000374372.1	37	c.1200C>T	CCDS13254.1																																																																																				0.612	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			71	81	0	0	0	1	0	71	81				
USP29	57663	broad.mit.edu	37	19	57641872	57641872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641872G>A	ENST00000254181.4	+	4	2283	c.1829G>A	c.(1828-1830)tGt>tAt	p.C610Y	USP29_ENST00000598197.1_Missense_Mutation_p.C610Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	610	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAGAGACTGTGGAGATGCA	0.478																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1828-1830)tGt>tAt		ubiquitin specific peptidase 29							71.0	70.0	70.0					19																	57641872		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641872G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1829G>A	19.37:g.57641872G>A	ENSP00000254181:p.Cys610Tyr					USP29_ENST00000598197.1_Missense_Mutation_p.C610Y	p.C610Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2283	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	610						Missense_Mutation	SNP	ENST00000254181.4	37	c.1829G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.152266	0.00325	.	.	ENSG00000131864	ENST00000254181	T	0.73575	-0.76	2.67	-1.02	0.10135	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.45796	0.1360	N	0.11927	0.2	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35624	-0.9781	9	0.02654	T	1	0.0026	4.8855	0.13701	0.1624:0.5205:0.3171:0.0	.	610	Q9HBJ7	UBP29_HUMAN	Y	610	ENSP00000254181:C610Y	ENSP00000254181:C610Y	C	+	2	0	USP29	62333684	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.381000	0.07417	-0.139000	0.11414	0.467000	0.42956	TGT		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			12	30	0	0	0	1	0	12	30				
TCAIM	285343	broad.mit.edu	37	3	44442806	44442806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44442806G>T	ENST00000342649.4	+	10	1657	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TCAIM_ENST00000417237.1_Missense_Mutation_p.E410D	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	410						mitochondrion (GO:0005739)											AGGCAAGAGAGAACATGAAAA	0.403																																						ENST00000342649.4																			0											c.(1228-1230)gaG>gaT		T cell activation inhibitor, mitochondrial							105.0	97.0	100.0					3																	44442806		2203	4300	6503	SO:0001583	missense	285343							g.chr3:44442806G>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1230G>T	3.37:g.44442806G>T	ENSP00000341539:p.Glu410Asp					TCAIM_ENST00000417237.1_Missense_Mutation_p.E410D	p.E410D	NM_173826.3	NP_776187.2					10	1657	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.1230G>T	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288017	0.40494	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.51325	0.71;0.71	5.3	-0.155	0.13395	.	0.442984	0.27362	N	0.019708	T	0.27489	0.0675	L	0.33189	0.99	0.33399	D	0.577082	B	0.02656	0.0	B	0.08055	0.003	T	0.12502	-1.0545	10	0.20519	T	0.43	.	4.2103	0.10509	0.1375:0.3548:0.394:0.1137	.	410	Q8N3R3	CC023_HUMAN	D	410	ENSP00000402581:E410D;ENSP00000341539:E410D	ENSP00000341539:E410D	E	+	3	2	C3orf23	44417810	0.995000	0.38212	0.771000	0.31576	0.991000	0.79684	0.238000	0.18004	0.029000	0.15352	0.555000	0.69702	GAG		0.403	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		35	46	1	0	2.47316e-13	1	3.13538e-13	35	46				
HIVEP2	3097	broad.mit.edu	37	6	143074858	143074858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074858C>T	ENST00000367604.1	-	9	7366	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.A2243T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A2243T|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGAAAGGGCTGGCGGCATG	0.567																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6727-6729)Gcc>Acc		human immunodeficiency virus type I enhancer binding protein 2							91.0	98.0	96.0					6																	143074858		1979	4137	6116	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074858C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6727G>A	6.37:g.143074858C>T	ENSP00000356576:p.Ala2243Thr					RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A2243T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A2243T	p.A2243T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7469	-			2243					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6727G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643450	0.14451	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02837	4.14;4.14;4.14	5.99	3.21	0.36854	.	0.361777	0.35615	N	0.003099	T	0.01156	0.0038	L	0.56769	1.78	0.29863	N	0.827514	B	0.24258	0.1	B	0.15870	0.014	T	0.46261	-0.9204	10	0.42905	T	0.14	-2.699	6.5909	0.22646	0.1277:0.5627:0.2457:0.064	.	2243	P31629	ZEP2_HUMAN	T	2243	ENSP00000356576:A2243T;ENSP00000356575:A2243T;ENSP00000012134:A2243T	ENSP00000012134:A2243T	A	-	1	0	HIVEP2	143116551	0.709000	0.27886	0.538000	0.28064	0.809000	0.45718	1.267000	0.33050	0.399000	0.25367	0.655000	0.94253	GCC		0.567	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			15	45	0	0	0	1	0	15	45				
CARD14	79092	broad.mit.edu	37	17	78163620	78163620	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78163620C>T	ENST00000573882.1	+	8	1448	c.912C>T	c.(910-912)cgC>cgT	p.R304R	CARD14_ENST00000344227.2_Silent_p.R304R|CARD14_ENST00000570421.1_Silent_p.R304R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Silent_p.R67R			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	304					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTGGAGCGCATCCACTCGC	0.682																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(910-912)cgC>cgT		caspase recruitment domain family, member 14							22.0	29.0	26.0					17																	78163620		2200	4295	6495	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78163620C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.912C>T	17.37:g.78163620C>T						CARD14_ENST00000344227.2_Silent_p.R304R|CARD14_ENST00000392434.2_Silent_p.R67R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.R304R	p.R304R			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1448	+	all_neural(118;0.0952)		304					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.912C>T	CCDS11768.1																																																																																				0.682	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			9	19	0	0	0	1	0	9	19				
GMIP	51291	broad.mit.edu	37	19	19740991	19740991	+	Silent	SNP	G	G	A	rs144936310	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19740991G>A	ENST00000203556.4	-	21	2831	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	GMIP_ENST00000587238.1_Silent_p.T872T|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000542587.1_5'Flank|LPAR2_ENST00000407877.3_5'Flank|GMIP_ENST00000445806.2_Silent_p.T869T|LPAR2_ENST00000589311.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	898					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGTGATGGGGGTCTCCTCGC	0.701													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15100	0.002		0.0	False		,,,				2504	0.0					ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2692-2694)acC>acT		GEM interacting protein																																				SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19740991G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2694C>T	19.37:g.19740991G>A						GMIP_ENST00000445806.2_Silent_p.T869T|GMIP_ENST00000587238.1_Silent_p.T872T	p.T898T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			21	2831	-			898					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.2694C>T	CCDS12408.1																																																																																				0.701	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		9	16	0	0	0	1	0	9	16				
ZNF285	26974	broad.mit.edu	37	19	44891353	44891353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891353C>A	ENST00000330997.4	-	4	1118	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.G359W|ZNF285_ENST00000544719.2_Missense_Mutation_p.G352W	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATCCAAACCCTTTCCCACAT	0.478																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1054-1056)Ggg>Tgg		zinc finger protein 285							97.0	96.0	97.0					19																	44891353		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891353C>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1054G>T	19.37:g.44891353C>A	ENSP00000333595:p.Gly352Trp					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.G359W|ZNF285_ENST00000544719.2_Missense_Mutation_p.G352W	p.G352W	NM_152354.3	NP_689567.3					4	1118	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1054G>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471672	0.43942	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.18502	2.21	3.5	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31918	0.0812	L	0.54323	1.7	0.19775	N	0.999952	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.88	T	0.04165	-1.0972	9	0.87932	D	0	.	6.1298	0.20199	0.1875:0.7017:0.0:0.1109	.	376;352	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	W	375;352	ENSP00000333595:G352W	ENSP00000333595:G352W	G	-	1	0	ZNF285	49583193	0.000000	0.05858	0.127000	0.21898	0.234000	0.25298	-0.288000	0.08377	1.671000	0.50874	0.454000	0.30748	GGG		0.478	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		22	30	1	0	0.000295444	1	0.000321833	22	30				
F8	2157	broad.mit.edu	37	X	154133299	154133299	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133299C>A	ENST00000360256.4	-	16	5574		c.e16-1			NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGAAAGTTACCTGTAGAACAA	0.368																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CS070375|CS081913	F8	S		c.e16-1		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						67.0	60.0	62.0					X																	154133299		2203	4298	6501	SO:0001630	splice_region_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154133299C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5374-1G>T	X.37:g.154133299C>A								NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			16	5574	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)							Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37		CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802871	0.70682	.	.	ENSG00000185010	ENST00000360256	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2428	0.82424	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F8	153786493	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.133000	0.77259	2.223000	0.72356	0.502000	0.49764	.		0.368	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Intron	21	36	1	0	4.96729e-08	1	5.9048e-08	21	36				
ISLR2	57611	broad.mit.edu	37	15	74425567	74425567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425567C>T	ENST00000361742.3	+	4	1241	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ISLR2_ENST00000453268.2_Missense_Mutation_p.R158W|ISLR2_ENST00000565540.1_Missense_Mutation_p.R158W|ISLR2_ENST00000435464.1_Missense_Mutation_p.R158W|ISLR2_ENST00000419208.1_Missense_Mutation_p.R158W|ISLR2_ENST00000445793.1_Missense_Mutation_p.R158W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.R158W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	158					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CAACAACAACCGGCTGCGTAC	0.632																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(472-474)Cgg>Tgg		immunoglobulin superfamily containing leucine-rich repeat 2							54.0	59.0	57.0					15																	74425567		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425567C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.472C>T	15.37:g.74425567C>T	ENSP00000355402:p.Arg158Trp					ISLR2_ENST00000453268.2_Missense_Mutation_p.R158W|ISLR2_ENST00000435464.1_Missense_Mutation_p.R158W|ISLR2_ENST00000419208.1_Missense_Mutation_p.R158W|ISLR2_ENST00000565159.1_Missense_Mutation_p.R158W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.R158W|ISLR2_ENST00000565540.1_Missense_Mutation_p.R158W	p.R158W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1241	+			158					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.472C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401280	0.62288	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.46	4.46	0.54185	.	0.176492	0.37715	U	0.001972	T	0.75895	0.3912	M	0.81179	2.53	0.48975	D	0.99973	D	0.89917	1.0	D	0.74348	0.983	T	0.80420	-0.1390	10	0.87932	D	0	.	14.384	0.66931	0.0:0.8515:0.1485:0.0	.	158	Q6UXK2	ISLR2_HUMAN	W	158	ENSP00000403244:R158W;ENSP00000355402:R158W;ENSP00000411443:R158W;ENSP00000411834:R158W;ENSP00000408872:R158W	ENSP00000355402:R158W	R	+	1	2	ISLR2	72212620	0.358000	0.24947	1.000000	0.80357	0.828000	0.46876	0.990000	0.29642	2.042000	0.60477	0.407000	0.27541	CGG		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		30	40	0	0	0	1	0	30	40				
CABLES1	91768	broad.mit.edu	37	18	20837319	20837319	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20837319C>T	ENST00000256925.7	+	10	1890	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Silent_p.V303V|CABLES1_ENST00000420687.2_Silent_p.V365V|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	630					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GACGGCTGGTCCAGAGTTCCT	0.532																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(1888-1890)gtC>gtT		Cdk5 and Abl enzyme substrate 1							55.0	55.0	55.0					18																	20837319		1914	4123	6037	SO:0001819	synonymous_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20837319C>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1890C>T	18.37:g.20837319C>T						RP11-17J14.2_ENST00000585184.1_RNA|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Silent_p.V303V|CABLES1_ENST00000420687.2_Silent_p.V365V|CABLES1_ENST00000585061.1_Intron	p.V630V	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			10	1890	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		630					B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Silent	SNP	ENST00000256925.7	37	c.1890C>T	CCDS42417.1																																																																																				0.532	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		20	21	0	0	0	1	0	20	21				
DPPA2	151871	broad.mit.edu	37	3	109027001	109027001	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:109027001G>T	ENST00000478945.1	-	6	782	c.536C>A	c.(535-537)aCt>aAt	p.T179N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	179					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTGCTGAAGTTATCACTTC	0.463																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(535-537)aCt>aAt		developmental pluripotency associated 2							179.0	158.0	165.0					3																	109027001		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109027001G>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.536C>A	3.37:g.109027001G>T	ENSP00000417710:p.Thr179Asn						p.T179N	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			6	782	-			179					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.536C>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297963	0.40694	.	.	ENSG00000163530	ENST00000478945	T	0.56941	0.43	4.43	2.6	0.31112	.	1.161610	0.06242	N	0.690650	T	0.70029	0.3177	M	0.74467	2.265	0.09310	N	1	D	0.71674	0.998	D	0.66979	0.948	T	0.48833	-0.9000	10	0.87932	D	0	-11.4962	7.5634	0.27864	0.0:0.1828:0.6276:0.1896	.	179	Q7Z7J5	DPPA2_HUMAN	N	179	ENSP00000417710:T179N	ENSP00000417710:T179N	T	-	2	0	DPPA2	110509691	0.016000	0.18221	0.001000	0.08648	0.015000	0.08874	1.393000	0.34497	0.780000	0.33566	0.555000	0.69702	ACT		0.463	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		36	71	1	0	1.15183e-24	1	1.52881e-24	36	71				
MCM4	4173	broad.mit.edu	37	8	48887319	48887319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48887319G>A	ENST00000262105.2	+	14	2371	c.2162G>A	c.(2161-2163)gGc>gAc	p.G721D	MCM4_ENST00000523944.1_Missense_Mutation_p.G721D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	721					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGGAAGATTGGCAGTAGCCGG	0.408																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(2161-2163)gGc>gAc		minichromosome maintenance complex component 4							172.0	179.0	177.0					8																	48887319		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48887319G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2162G>A	8.37:g.48887319G>A	ENSP00000262105:p.Gly721Asp					MCM4_ENST00000523944.1_Missense_Mutation_p.G721D	p.G721D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			14	2371	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	721					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2162G>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878932	0.91740	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000524276;ENST00000521261	T;T	0.06142	3.34;3.34	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.48935	1.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00430	-1.1744	10	0.87932	D	0	-20.4031	14.7154	0.69265	0.0694:0.0:0.9306:0.0	.	721;721	B3KMX0;P33991	.;MCM4_HUMAN	D	721;721;708;681;5;5	ENSP00000430194:G721D;ENSP00000262105:G721D	ENSP00000262105:G721D	G	+	2	0	MCM4	49049872	1.000000	0.71417	0.147000	0.22382	0.991000	0.79684	9.408000	0.97327	1.461000	0.47929	0.557000	0.71058	GGC		0.408	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		98	145	0	0	0	1	0	98	145				
C20orf27	54976	broad.mit.edu	37	20	3734741	3734741	+	Silent	SNP	G	G	A	rs538434469		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3734741G>A	ENST00000379772.3	-	6	1299	c.489C>T	c.(487-489)taC>taT	p.Y163Y	C20orf27_ENST00000217195.8_Silent_p.Y188Y	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	163										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCTCTGAGTCGTATTCCAGCT	0.672																																						ENST00000379772.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(487-489)taC>taT		chromosome 20 open reading frame 27							60.0	48.0	52.0					20																	3734741		2203	4300	6503	SO:0001819	synonymous_variant	54976							g.chr20:3734741G>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.489C>T	20.37:g.3734741G>A						C20orf27_ENST00000217195.8_Silent_p.Y188Y	p.Y163Y	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN			6	1299	-			163					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Silent	SNP	ENST00000379772.3	37	c.489C>T	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254112	0.22965	.	.	ENSG00000101220	ENST00000399683	.	.	.	5.14	-0.85	0.10720	.	.	.	.	.	T	0.57533	0.2060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52764	-0.8532	4	.	.	.	-7.7793	10.8157	0.46573	0.4593:0.0:0.5407:0.0	.	.	.	.	M	116	.	.	T	-	2	0	C20orf27	3682741	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	1.464000	0.35288	-0.243000	0.09653	-0.797000	0.03246	ACG		0.672	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		8	9	0	0	0	1	0	8	9				
CDX4	1046	broad.mit.edu	37	X	72667186	72667186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667186G>A	ENST00000373514.2	+	1	97	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	33					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGCGGCACAGGGGGCGGTGG	0.607																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(97-99)Ggg>Agg		caudal type homeobox 4							31.0	30.0	31.0					X																	72667186		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667186G>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.97G>A	X.37:g.72667186G>A	ENSP00000362613:p.Gly33Arg						p.G33R	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	97	+	Renal(35;0.156)		33					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.97G>A	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	4.836	0.155391	0.09236	.	.	ENSG00000131264	ENST00000373514	D	0.93811	-3.29	2.57	2.57	0.30868	Caudal-like activation domain (1);	0.000000	0.39475	N	0.001359	D	0.93897	0.8047	M	0.63428	1.95	0.09310	N	1	D	0.69078	0.997	D	0.70487	0.969	D	0.85278	0.1060	10	0.21014	T	0.42	-9.4429	6.7359	0.23409	0.0:0.2906:0.7094:0.0	.	33	O14627	CDX4_HUMAN	R	33	ENSP00000362613:G33R	ENSP00000362613:G33R	G	+	1	0	CDX4	72583911	0.970000	0.33590	0.011000	0.14972	0.003000	0.03518	2.033000	0.41136	1.561000	0.49584	0.436000	0.28706	GGG		0.607	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		7	23	0	0	0	1	0	7	23				
CPLX3	594855	broad.mit.edu	37	15	75122677	75122677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75122677G>A	ENST00000395018.4	+	3	616	c.459G>A	c.(457-459)gaG>gaA	p.E153E	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	153					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)	p.E153D(1)		large_intestine(2)|lung(2)	4						AATCAGCTGAGAAGTGTCACG	0.592																																						ENST00000395018.4																			1	Substitution - Missense(1)	p.E153D(1)	large_intestine(1)	large_intestine(2)|lung(2)	4						c.(457-459)gaG>gaA		complexin 3							57.0	44.0	48.0					15																	75122677		2197	4295	6492	SO:0001819	synonymous_variant	594855					cell junction|synapse	syntaxin binding	g.chr15:75122677G>A	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.459G>A	15.37:g.75122677G>A						RP11-414J4.2_ENST00000564823.1_RNA	p.E153E	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	616	+			153					D3DW66|Q8TEM6|Q9H818	Silent	SNP	ENST00000395018.4	37	c.459G>A	CCDS32294.1																																																																																				0.592	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		9	10	0	0	0	1	0	9	10				
LRRC3	81543	broad.mit.edu	37	21	45876632	45876632	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45876632G>T	ENST00000291592.4	+	2	422	c.105G>T	c.(103-105)caG>caT	p.Q35H	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	35	LRRNT.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTGCCCACAGCCCTGCCGGT	0.701																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(103-105)caG>caT		leucine rich repeat containing 3							22.0	26.0	25.0					21																	45876632		2199	4289	6488	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876632G>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.105G>T	21.37:g.45876632G>T	ENSP00000291592:p.Gln35His						p.Q35H	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	422	+		Breast(209;0.00908)	35			LRRNT.		Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.105G>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	3.756	-0.050672	0.07407	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.96232	-3.95	4.36	-1.3	0.09259	Leucine-rich repeat-containing N-terminal (2);	0.433220	0.22669	N	0.057083	D	0.91998	0.7465	L	0.39245	1.2	0.09310	N	1	B	0.18610	0.029	B	0.21708	0.036	D	0.85519	0.1202	10	0.66056	D	0.02	-14.5452	9.0433	0.36331	0.1528:0.427:0.4202:0.0	.	35	Q9BY71	LRRC3_HUMAN	H	35	ENSP00000291592:Q35H	ENSP00000291592:Q35H	Q	+	3	2	LRRC3	44701060	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.061000	0.14366	0.048000	0.15891	-0.305000	0.09177	CAG		0.701	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			9	30	1	0	1.12685e-05	1	1.27857e-05	9	30				
SPTA1	6708	broad.mit.edu	37	1	158637679	158637679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158637679C>T	ENST00000368147.4	-	15	2187	c.2007G>A	c.(2005-2007)tgG>tgA	p.W669*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	669					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACTCCTCCCAGAGGCTGG	0.433																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2005-2007)tgG>tgA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							70.0	67.0	68.0					1																	158637679		1846	4091	5937	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637679C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2007G>A	1.37:g.158637679C>T	ENSP00000357129:p.Trp669*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W669*	p.W669*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2187	-	all_hematologic(112;0.0378)		669					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2007G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	39	7.418038	0.98272	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.95	4.95	0.65309	.	0.000000	0.30410	N	0.009696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9418	0.86220	0.0:1.0:0.0:0.0	.	.	.	.	X	669	.	ENSP00000357129:W669X	W	-	3	0	SPTA1	156904303	1.000000	0.71417	0.980000	0.43619	0.383000	0.30230	6.608000	0.74168	2.571000	0.86741	0.650000	0.86243	TGG		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	51	0	0	0	1	0	12	51				
GTF3C1	2975	broad.mit.edu	37	16	27508992	27508992	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27508992G>A	ENST00000356183.4	-	14	2331	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	GTF3C1_ENST00000561623.1_Silent_p.G772G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	772					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGGGGTTATGCCCATTTTAT	0.418																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(2314-2316)ggC>ggT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							172.0	160.0	164.0					16																	27508992		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27508992G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2316C>T	16.37:g.27508992G>A						GTF3C1_ENST00000561623.1_Silent_p.G772G	p.G772G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			14	2331	-			772					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.2316C>T	CCDS32414.1																																																																																				0.418	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		27	65	0	0	0	1	0	27	65				
PPP1R26	9858	broad.mit.edu	37	9	138378029	138378029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138378029G>A	ENST00000356818.2	+	4	2222	c.1673G>A	c.(1672-1674)tGc>tAc	p.C558Y	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000605660.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000401470.3_Missense_Mutation_p.C558Y|PPP1R26_ENST00000604351.1_Missense_Mutation_p.C558Y	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	558					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGTGAGAGCTGCCCGCAGGCT	0.612																																						ENST00000356818.2																			0											c.(1672-1674)tGc>tAc		protein phosphatase 1, regulatory subunit 26							82.0	91.0	88.0					9																	138378029		2201	4297	6498	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138378029G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1673G>A	9.37:g.138378029G>A	ENSP00000349274:p.Cys558Tyr					PPP1R26_ENST00000604351.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000605660.1_Missense_Mutation_p.C558Y|PPP1R26_ENST00000401470.3_Missense_Mutation_p.C558Y	p.C558Y	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2222	+			558					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1673G>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455157	0.26161	.	.	ENSG00000196422	ENST00000356818	T	0.21361	2.01	4.95	-3.29	0.05017	.	1.761490	0.02583	N	0.099106	T	0.18045	0.0433	L	0.54323	1.7	0.09310	N	1	P	0.34546	0.456	B	0.34722	0.188	T	0.22977	-1.0201	10	0.59425	D	0.04	-1.8554	0.0707	0.00022	0.2619:0.2013:0.2064:0.3304	.	558	Q5T8A7	PPR26_HUMAN	Y	558	ENSP00000349274:C558Y	ENSP00000349274:C558Y	C	+	2	0	KIAA0649	137517850	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.769000	0.04710	-0.413000	0.07507	-0.258000	0.10820	TGC		0.612	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		56	127	0	0	0	1	0	56	127				
SIGLEC16	400709	broad.mit.edu	37	19	50475318	50475318	+	RNA	SNP	G	G	A	rs551474306	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50475318G>A	ENST00000602139.1	+	0	1264							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CTCGGCACCCGCTGGGCTCCC	0.667																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50475318G>A	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475318G>A														0	1264	+									RNA	SNP	ENST00000602139.1	37																																																																																						0.667	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		15	26	0	0	0	1	0	15	26				
SHANK3	85358	broad.mit.edu	37	22	51117811	51117811	+	Silent	SNP	C	C	T	rs200400333	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51117811C>T	ENST00000414786.2	+	7	1067	c.840C>T	c.(838-840)aaC>aaT	p.N280N	SHANK3_ENST00000262795.3_Silent_p.N280N|SHANK3_ENST00000445220.2_Silent_p.N280N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	280					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCCCAGAACGCCTCGGGGA	0.612																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(838-840)aaC>aaT		SH3 and multiple ankyrin repeat domains 3							44.0	54.0	50.0					22																	51117811		2196	4295	6491	SO:0001819	synonymous_variant	85358							g.chr22:51117811C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.840C>T	22.37:g.51117811C>T						SHANK3_ENST00000445220.2_Silent_p.N280N|SHANK3_ENST00000262795.3_Silent_p.N280N	p.N280N			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	7	1067	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	280					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.840C>T																																																																																					0.612	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		14	20	0	0	0	1	0	14	20				
BCDIN3D	144233	broad.mit.edu	37	12	50232614	50232614	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50232614C>A	ENST00000333924.4	-	2	460	c.419G>T	c.(418-420)aGg>aTg	p.R140M	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	140	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTTCCGGGTCCTTTGATTCAT	0.443											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333924.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						c.(418-420)aGg>aTg		BCDIN3 domain containing							85.0	87.0	87.0					12																	50232614		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50232614C>A		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.419G>T	12.37:g.50232614C>A	ENSP00000335201:p.Arg140Met		OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	p.R140M	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN			2	460	-			140			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.419G>T	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.370106	0.11352	.	.	ENSG00000186666	ENST00000333924	T	0.48522	0.81	5.57	0.317	0.15861	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.673227	0.16578	N	0.208337	T	0.19046	0.0457	N	0.08118	0	0.09310	N	0.999994	P	0.35600	0.511	B	0.32393	0.145	T	0.09729	-1.0661	10	0.48119	T	0.1	.	0.9606	0.01395	0.155:0.334:0.1505:0.3605	.	140	Q7Z5W3	BN3D2_HUMAN	M	140	ENSP00000335201:R140M	ENSP00000335201:R140M	R	-	2	0	BCDIN3D	48518881	0.000000	0.05858	0.689000	0.30133	0.063000	0.16089	0.275000	0.18698	0.385000	0.24970	0.591000	0.81541	AGG		0.443	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		10	57	1	0	4.68919e-08	1	5.58064e-08	10	57				
RETSAT	54884	broad.mit.edu	37	2	85573132	85573132	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573132T>C	ENST00000295802.4	-	6	1195	c.1083A>G	c.(1081-1083)gaA>gaG	p.E361E	RETSAT_ENST00000457495.2_Silent_p.E300E|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.E361E	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	361					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCAGTAGGTGTTCATAGGTGT	0.582																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1081-1083)gaA>gaG		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						142.0	126.0	132.0					2																	85573132		2203	4300	6503	SO:0001819	synonymous_variant	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85573132T>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1083A>G	2.37:g.85573132T>C						RETSAT_ENST00000457495.2_Silent_p.E300E|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.E361E	p.E361E	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			6	1195	-			361					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	c.1083A>G	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	T	7.289	0.610735	0.14066	.	.	ENSG00000042445	ENST00000449375	.	.	.	5.4	1.55	0.23275	.	.	.	.	.	T	0.22859	0.0552	.	.	.	0.24018	N	0.996159	.	.	.	.	.	.	T	0.22941	-1.0202	4	.	.	.	-7.5615	2.35	0.04281	0.1554:0.5259:0.1503:0.1685	.	.	.	.	S	150	.	.	N	-	2	0	RETSAT	85426643	0.718000	0.27976	0.000000	0.03702	0.269000	0.26545	1.523000	0.35932	0.005000	0.14708	-0.375000	0.07067	AAC		0.582	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		56	80	0	0	0	1	0	56	80				
ENTPD1	953	broad.mit.edu	37	10	97602166	97602166	+	Missense_Mutation	SNP	G	G	A	rs202141391		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97602166G>A	ENST00000371205.4	+	4	611	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ENTPD1_ENST00000371207.3_Missense_Mutation_p.E122K|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000453258.2_Missense_Mutation_p.E117K|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_Missense_Mutation_p.E2K|RP11-429G19.3_ENST00000433113.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	110					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGATTGCATGGAAAGAGCTAG	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14511	0.0		0.0	False		,,,				2504	0.0					ENST00000371207.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(364-366)Gaa>Aaa		ectonucleoside triphosphate diphosphohydrolase 1							84.0	86.0	85.0					10																	97602166		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97602166G>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.328G>A	10.37:g.97602166G>A	ENSP00000360248:p.Glu110Lys					ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.E117K|ENTPD1_ENST00000371205.4_Missense_Mutation_p.E110K|ENTPD1_ENST00000543964.1_Missense_Mutation_p.E2K|ENTPD1_ENST00000539125.1_Intron|RP11-429G19.3_ENST00000433113.1_RNA	p.E122K	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	4	427	+		Colorectal(252;0.0821)	110					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.364G>A	CCDS7444.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.23	1.293162	0.23564	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000371205	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.37	1.27	0.21489	.	0.577018	0.18544	N	0.138102	T	0.08802	0.0218	L	0.33245	0.995	0.80722	D	1	B;B;B;B;B	0.13145	0.002;0.002;0.004;0.002;0.007	B;B;B;B;B	0.12837	0.004;0.002;0.007;0.004;0.008	T	0.22347	-1.0219	10	0.33940	T	0.23	-1.6047	4.6916	0.12783	0.3459:0.1491:0.505:0.0	.	122;122;117;110;117	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	K	117;117;122;2;110	ENSP00000390955:E117K;ENSP00000360250:E122K;ENSP00000442968:E2K;ENSP00000360248:E110K	ENSP00000360248:E110K	E	+	1	0	ENTPD1	97592156	0.002000	0.14202	0.374000	0.26016	0.551000	0.35334	-0.438000	0.06905	0.064000	0.16427	0.591000	0.81541	GAA		0.433	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		38	63	0	0	0	1	0	38	63				
ARHGEF10	9639	broad.mit.edu	37	8	1817379	1817379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1817379C>T	ENST00000398564.1	+	7	717	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ARHGEF10_ENST00000520359.1_Silent_p.Y215Y|ARHGEF10_ENST00000398560.1_Silent_p.Y239Y|ARHGEF10_ENST00000518288.1_Silent_p.Y239Y|ARHGEF10_ENST00000349830.3_Silent_p.Y214Y|ARHGEF10_ENST00000262112.6_Silent_p.Y239Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	239					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAGCAATTTACGATGACGTTC	0.443																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(715-717)taC>taT		Rho guanine nucleotide exchange factor (GEF) 10							117.0	115.0	116.0					8																	1817379		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1817379C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.717C>T	8.37:g.1817379C>T						ARHGEF10_ENST00000398560.1_Silent_p.Y239Y|ARHGEF10_ENST00000262112.6_Silent_p.Y239Y|ARHGEF10_ENST00000520359.1_Silent_p.Y215Y|ARHGEF10_ENST00000349830.3_Silent_p.Y214Y|ARHGEF10_ENST00000398564.1_Silent_p.Y239Y	p.Y239Y			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	8	880	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	239					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.717C>T																																																																																					0.443	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				30	46	0	0	0	1	0	30	46				
BIN1	274	broad.mit.edu	37	2	127825747	127825747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127825747G>A	ENST00000316724.5	-	7	1015	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BIN1_ENST00000393040.3_Intron|BIN1_ENST00000357970.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000351659.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000376113.2_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	202	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCTGATTTCGGAGCAGGTTA	0.612											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(604-606)Cga>Tga		bridging integrator 1							113.0	92.0	99.0					2																	127825747		2203	4300	6503	SO:0001587	stop_gained	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127825747G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.604C>T	2.37:g.127825747G>A	ENSP00000316779:p.Arg202*		OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1560	BIN1_ENST00000409400.1_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000351659.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000357970.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393041.3_Intron	p.R202*	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	1015	-	Colorectal(110;0.0831)		202			BAR.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Nonsense_Mutation	SNP	ENST00000316724.5	37	c.604C>T	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	.	40	8.107556	0.98657	.	.	ENSG00000136717	ENST00000357970;ENST00000351659;ENST00000316724	.	.	.	4.87	4.87	0.63330	.	0.102314	0.39687	N	0.001290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9677	16.9534	0.86251	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000316779:R202X	R	-	1	2	BIN1	127542217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.895000	0.63214	2.532000	0.85374	0.549000	0.68633	CGA		0.612	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		7	7	0	0	0	1	0	7	7				
CKMT1A	548596	broad.mit.edu	37	15	43991225	43991225	+	Missense_Mutation	SNP	C	C	T	rs148934583	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43991225C>T	ENST00000413453.2	+	9	1716	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CKMT1A_ENST00000434505.1_Missense_Mutation_p.R398W|STRC_ENST00000541030.1_Intron			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	398	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGATTGTGAACGGCGTCTGGA	0.493													C|||	25	0.00499201	0.0	0.0	5008	,	,		20163	0.0238		0.0	False		,,,				2504	0.001					ENST00000413453.2																			0				lung(4)	4						c.(1192-1194)Cgg>Tgg		creatine kinase, mitochondrial 1A	Creatine(DB00148)	C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	179.0	160.0	166.0		1192	0.5	1.0	15	dbSNP_134	166	0,8588		0,0,4294	no	missense	CKMT1A	NM_001015001.1	101	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	398/418	43991225	1,12983	2198	4294	6492	SO:0001583	missense	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43991225C>T	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1192C>T	15.37:g.43991225C>T	ENSP00000406577:p.Arg398Trp					STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.R398W	p.R398W			P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1716	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	398			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000413453.2	37	c.1192C>T	CCDS32217.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	17.78	3.474313	0.63737	2.27E-4	0.0	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.25250	1.81;1.81	3.71	0.528	0.17089	.	0.108796	0.64402	D	0.000012	T	0.22820	0.0551	.	.	.	0.50813	D	0.999899	.	.	.	.	.	.	T	0.04191	-1.0970	7	0.87932	D	0	8.7535	3.6156	0.08077	0.3386:0.4657:0.0:0.1957	.	.	.	.	W	429;398;398	ENSP00000413165:R398W;ENSP00000406577:R398W	ENSP00000406577:R398W	R	+	1	2	CKMT1A	41778517	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	2.182000	0.42556	-0.233000	0.09797	0.393000	0.25936	CGG		0.493	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			42	96	0	0	0	1	0	42	96				
IFIT2	3433	broad.mit.edu	37	10	91066650	91066650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066650C>A	ENST00000371826.3	+	2	1106	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	313					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGAAAGTTACTGGAACTAAT	0.443																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(937-939)Ctg>Atg		interferon-induced protein with tetratricopeptide repeats 2							87.0	83.0	84.0					10																	91066650		1881	4106	5987	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066650C>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.937C>A	10.37:g.91066650C>A	ENSP00000360891:p.Leu313Met					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.L313M	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	1106	+		Colorectal(252;0.0161)	313					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.937C>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591299	0.46214	.	.	ENSG00000119922	ENST00000371826	T	0.14391	2.51	4.58	-3.14	0.05250	Tetratricopeptide-like helical (1);	4.405790	0.01912	U	0.039938	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.41510	0.359	T	0.26677	-1.0096	10	0.54805	T	0.06	3.4573	8.6036	0.33760	0.1857:0.1464:0.5962:0.0717	.	313	P09913	IFIT2_HUMAN	M	313	ENSP00000360891:L313M	ENSP00000360891:L313M	L	+	1	2	IFIT2	91056630	0.000000	0.05858	0.000000	0.03702	0.752000	0.42762	-0.757000	0.04772	-0.563000	0.06078	0.655000	0.94253	CTG		0.443	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		33	56	1	0	4.3181e-19	1	5.64621e-19	33	56				
SLC6A4	6532	broad.mit.edu	37	17	28544283	28544283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28544283C>T	ENST00000401766.2	-	5	1250	c.738G>A	c.(736-738)caG>caA	p.Q246Q	SLC6A4_ENST00000261707.3_Silent_p.Q246Q			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	246					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CCCCCAGGTCCTGGAGCCCCT	0.587																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(736-738)caG>caA		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						75.0	76.0	76.0					17																	28544283		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28544283C>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.738G>A	17.37:g.28544283C>T						SLC6A4_ENST00000261707.3_Silent_p.Q246Q	p.Q246Q			P31645	SC6A4_HUMAN			5	1250	-			246					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.738G>A	CCDS11256.1																																																																																				0.587	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		7	85	0	0	0	1	0	7	85				
SLC4A1	6521	broad.mit.edu	37	17	42334864	42334864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42334864C>T	ENST00000262418.6	-	13	1635	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	494	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.G494S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCCAGAAGCCGATCCACACG	0.587																																						ENST00000262418.6																			1	Substitution - Missense(1)	p.G494S(1)	ovary(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1480-1482)Ggc>Agc		solute carrier family 4 (anion exchanger), member 1							111.0	92.0	98.0					17																	42334864		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42334864C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1480G>A	17.37:g.42334864C>T	ENSP00000262418:p.Gly494Ser						p.G494S	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	13	1635	-		Breast(137;0.014)|Prostate(33;0.0181)	494			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1480G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	36	5.774572	0.96922	.	.	ENSG00000004939	ENST00000262418	D	0.83506	-1.73	5.57	5.57	0.84162	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.94332	0.7563	10	0.87932	D	0	.	19.1573	0.93516	0.0:1.0:0.0:0.0	.	494;494	E2RVJ0;P02730	.;B3AT_HUMAN	S	494	ENSP00000262418:G494S	ENSP00000262418:G494S	G	-	1	0	SLC4A1	39690390	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.818000	0.86416	2.619000	0.88677	0.561000	0.74099	GGC		0.587	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		13	38	0	0	0	1	0	13	38				
PPARA	5465	broad.mit.edu	37	22	46594465	46594465	+	Missense_Mutation	SNP	G	G	A	rs371347006		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46594465G>A	ENST00000396000.2	+	3	450	c.185G>A	c.(184-186)gGc>gAc	p.G62D	PPARA_ENST00000434345.2_Missense_Mutation_p.G62D|PPARA_ENST00000407236.1_Missense_Mutation_p.G62D|PPARA_ENST00000402126.1_Missense_Mutation_p.G62D|PPARA_ENST00000262735.5_Missense_Mutation_p.G62D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	62					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	AGCTGTCCTGGCTCAGATGGC	0.418																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(184-186)gGc>gAc		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	G	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	73.0	77.0	75.0		185,185	4.7	0.0	22		75	0,8600		0,0,4300	no	missense,missense	PPARA	NM_001001928.2,NM_005036.4	94,94	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	62/469,62/469	46594465	1,13005	2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46594465G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.185G>A	22.37:g.46594465G>A	ENSP00000379322:p.Gly62Asp					PPARA_ENST00000407236.1_Missense_Mutation_p.G62D|PPARA_ENST00000402126.1_Missense_Mutation_p.G62D|PPARA_ENST00000434345.2_Missense_Mutation_p.G62D|PPARA_ENST00000262735.5_Missense_Mutation_p.G62D	p.G62D			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	3	450	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	62					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.185G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339136	0.41398	2.27E-4	0.0	ENSG00000186951	ENST00000415785;ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96830	-3.19;-3.19;-4.14;-3.19;-3.19;-3.04	5.7	4.68	0.58851	.	0.180781	0.49305	D	0.000157	D	0.96688	0.8919	M	0.78637	2.42	0.39029	D	0.959894	D;D	0.61697	0.99;0.99	P;P	0.54140	0.743;0.743	D	0.96097	0.9066	10	0.16896	T	0.51	.	14.2621	0.66092	0.0:0.1484:0.8516:0.0	.	62;62	F1D8S4;Q07869	.;PPARA_HUMAN	D	62	ENSP00000379322:G62D;ENSP00000262735:G62D;ENSP00000414752:G62D;ENSP00000385523:G62D;ENSP00000385246:G62D;ENSP00000408149:G62D	ENSP00000262735:G62D	G	+	2	0	PPARA	44973129	1.000000	0.71417	0.018000	0.16275	0.007000	0.05969	4.551000	0.60740	1.398000	0.46701	0.655000	0.94253	GGC		0.418	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		5	55	0	0	0	1	0	5	55				
SCGB3A2	117156	broad.mit.edu	37	5	147261008	147261008	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147261008G>T	ENST00000296694.4	+	2	148		c.e2-1		SCGB3A2_ENST00000504320.1_Splice_Site|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_Splice_Site	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2							endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCTGCAGCTACTGCCTT	0.473																																						ENST00000296694.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.e2-1		secretoglobin, family 3A, member 2							163.0	161.0	162.0					5																	147261008		2203	4300	6503	SO:0001630	splice_region_variant	117156					extracellular region	binding	g.chr5:147261008G>T	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.56-1G>T	5.37:g.147261008G>T						SCGB3A2_ENST00000514688.1_Splice_Site|SCGB3A2_ENST00000504320.1_Splice_Site|C5orf46_ENST00000510432.1_Intron		NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	148	+									Splice_Site	SNP	ENST00000296694.4	37		CCDS4287.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423339	0.25639	.	.	ENSG00000164265	ENST00000296694	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5638	0.68159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCGB3A2	147241201	0.996000	0.38824	0.893000	0.35052	0.197000	0.23852	4.418000	0.59828	2.594000	0.87642	0.555000	0.69702	.		0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023	Intron	36	67	1	0	3.33393e-15	1	4.27331e-15	36	67				
SLC2A12	154091	broad.mit.edu	37	6	134323202	134323202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134323202C>T	ENST00000275230.5	-	4	1788	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	545					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AACATAACAACAAAAAGCAGG	0.348																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1633-1635)Gtt>Att		solute carrier family 2 (facilitated glucose transporter), member 12							117.0	110.0	113.0					6																	134323202		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134323202C>T	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1633G>A	6.37:g.134323202C>T	ENSP00000275230:p.Val545Ile						p.V545I	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	4	1788	-	Breast(56;0.214)|Colorectal(23;0.221)		545					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.1633G>A	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173336	0.06421	.	.	ENSG00000146411	ENST00000275230	T	0.76186	-1.0	5.78	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.17901	0.54	0.43579	D	0.995912	B	0.02656	0.0	B	0.08055	0.003	T	0.26608	-1.0098	10	0.08599	T	0.76	-6.2805	12.3134	0.54942	0.0:0.864:0.0:0.136	.	545	Q8TD20	GTR12_HUMAN	I	545	ENSP00000275230:V545I	ENSP00000275230:V545I	V	-	1	0	SLC2A12	134364895	1.000000	0.71417	0.773000	0.31616	0.680000	0.39746	2.156000	0.42310	0.808000	0.34231	0.644000	0.83932	GTT		0.348	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			6	82	0	0	0	1	0	6	82				
SETD7	80854	broad.mit.edu	37	4	140468102	140468102	+	Missense_Mutation	SNP	G	G	A	rs201937432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140468102G>A	ENST00000274031.3	-	2	778	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SETD7_ENST00000404104.3_Missense_Mutation_p.R48W|SETD7_ENST00000406354.1_Silent_p.D30D|SETD7_ENST00000506866.2_Missense_Mutation_p.R48W	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	48					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AACTTCCCCCGTCCGTTCTTT	0.458																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(142-144)Cgg>Tgg		SET domain containing (lysine methyltransferase) 7							108.0	102.0	104.0					4																	140468102		2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140468102G>A	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.142C>T	4.37:g.140468102G>A	ENSP00000274031:p.Arg48Trp					SETD7_ENST00000404104.3_Missense_Mutation_p.R48W|SETD7_ENST00000506866.2_Missense_Mutation_p.R48W|SETD7_ENST00000406354.1_Silent_p.D30D	p.R48W	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			2	778	-	all_hematologic(180;0.156)		48					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.142C>T	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305361	0.81247	.	.	ENSG00000145391	ENST00000506866;ENST00000274031;ENST00000404104	T;T;T	0.55588	0.51;0.51;0.51	5.77	4.93	0.64822	.	0.055571	0.64402	D	0.000001	T	0.60495	0.2273	L	0.38733	1.17	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.60609	0.877;0.761	T	0.64415	-0.6413	10	0.66056	D	0.02	-14.5203	15.2561	0.73585	0.0675:0.0:0.9325:0.0	.	48;48	B5MCZ8;Q8WTS6	.;SETD7_HUMAN	W	48	ENSP00000427300:R48W;ENSP00000274031:R48W;ENSP00000385913:R48W	ENSP00000274031:R48W	R	-	1	2	SETD7	140687552	1.000000	0.71417	0.506000	0.27664	0.982000	0.71751	5.419000	0.66435	1.581000	0.49865	0.655000	0.94253	CGG		0.458	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		17	70	0	0	0	1	0	17	70				
PRKCA	5578	broad.mit.edu	37	17	64684476	64684476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684476A>G	ENST00000413366.3	+	7	769	c.743A>G	c.(742-744)gAt>gGt	p.D248G		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	248	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	TGGGACTGGGATCGAACAACA	0.463																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(742-744)gAt>gGt		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						170.0	150.0	157.0					17																	64684476		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64684476A>G		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.743A>G	17.37:g.64684476A>G	ENSP00000408695:p.Asp248Gly						p.D248G	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		7	769	+			248			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.743A>G	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021072	0.75275	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.53857	0.6	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.89601	3.045	0.80722	D	1	B;B	0.31640	0.163;0.333	B;P	0.47891	0.33;0.56	T	0.76119	-0.3076	10	0.52906	T	0.07	.	15.3634	0.74499	1.0:0.0:0.0:0.0	.	248;159	P17252;Q59FI5	KPCA_HUMAN;.	G	248;155	ENSP00000408695:D248G	ENSP00000284384:D155G	D	+	2	0	PRKCA	62114938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.854000	0.92228	2.086000	0.62901	0.454000	0.30748	GAT		0.463	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			31	40	0	0	0	1	0	31	40				
TNPO1	3842	broad.mit.edu	37	5	72185660	72185660	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72185660A>G	ENST00000337273.5	+	14	2003	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	TNPO1_ENST00000506351.2_Missense_Mutation_p.Y518C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y476C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y476C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	526					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTGTTCCTTACCTTGCTTAT	0.348																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1576-1578)tAc>tGc		transportin 1							145.0	141.0	142.0					5																	72185660		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72185660A>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1577A>G	5.37:g.72185660A>G	ENSP00000336712:p.Tyr526Cys					TNPO1_ENST00000506351.2_Missense_Mutation_p.Y518C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y476C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y476C	p.Y526C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	14	2003	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	526					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1577A>G	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710649	0.68730	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.18	4.0	0.46444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89037	0.3446	10	0.87932	D	0	-4.9119	11.5518	0.50725	0.8658:0.0:0.0:0.1342	.	476;526	Q92973-3;Q92973	.;TNPO1_HUMAN	C	526;476;476;518;37	ENSP00000336712:Y526C;ENSP00000398524:Y476C;ENSP00000428899:Y476C;ENSP00000425118:Y518C	ENSP00000336712:Y526C	Y	+	2	0	TNPO1	72221416	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.905000	0.92613	0.896000	0.36366	0.528000	0.53228	TAC		0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		41	56	0	0	0	1	0	41	56				
TMEM59	9528	broad.mit.edu	37	1	54518691	54518691	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54518691G>T	ENST00000234831.5	-	1	420	c.171C>A	c.(169-171)ccC>ccA	p.P57P	TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Silent_p.P57P|TCEANC2_ENST00000371331.1_5'Flank|MIR4781_ENST00000585250.1_RNA|TCEANC2_ENST00000234827.1_5'Flank	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	57					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTGTGCAAGGGGTAGGTCA	0.637																																						ENST00000234831.5																			0				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(169-171)ccC>ccA		transmembrane protein 59							65.0	70.0	68.0					1																	54518691		2203	4300	6503	SO:0001819	synonymous_variant	9528					Golgi membrane|integral to membrane		g.chr1:54518691G>T	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.171C>A	1.37:g.54518691G>T						TMEM59_ENST00000371337.3_Silent_p.P57P|TMEM59_ENST00000371341.1_Intron	p.P57P	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN			1	420	-			57					B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Silent	SNP	ENST00000234831.5	37	c.171C>A	CCDS586.1																																																																																				0.637	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		22	39	1	0	1.36565e-18	1	1.78266e-18	22	39				
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	A	rs373094172		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88763681G>A	ENST00000237201.1	+	2	343	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(226-228)Gtc>Atc		sperm acrosome associated 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	87.0	85.0	86.0		226	1.9	0.4	6		86	0,8600		0,0,4300	no	missense	SPACA1	NM_030960.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	76/295	88763681	1,13005	2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88763681G>A	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.226G>A	6.37:g.88763681G>A	ENSP00000237201:p.Val76Ile						p.V76I	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	2	343	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	76						Missense_Mutation	SNP	ENST00000237201.1	37	c.226G>A	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341902	0.24339	2.27E-4	0.0	ENSG00000118434	ENST00000237201	T	0.21734	1.99	5.97	1.93	0.25924	.	0.811387	0.10979	N	0.612887	T	0.06462	0.0166	M	0.65975	2.015	0.09310	N	1	B	0.33494	0.414	B	0.21360	0.034	T	0.35325	-0.9793	10	0.56958	D	0.05	-6.9977	1.9497	0.03364	0.1539:0.1154:0.3434:0.3873	.	76	Q9HBV2	SACA1_HUMAN	I	76	ENSP00000237201:V76I	ENSP00000237201:V76I	V	+	1	0	SPACA1	88820400	0.792000	0.28813	0.363000	0.25875	0.182000	0.23217	0.669000	0.25142	0.388000	0.25054	0.650000	0.86243	GTC		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			5	40	0	0	0	1	0	5	40				
SLC20A1	6574	broad.mit.edu	37	2	113420496	113420496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113420496G>A	ENST00000272542.3	+	11	2473	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	645					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTTGACTGGCGTCTCTTTCGT	0.483																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1933-1935)cGt>cAt		solute carrier family 20 (phosphate transporter), member 1							191.0	172.0	178.0					2																	113420496		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113420496G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1934G>A	2.37:g.113420496G>A	ENSP00000272542:p.Arg645His						p.R645H	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			11	2473	+			645					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1934G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052490	0.55218	.	.	ENSG00000144136	ENST00000272542	D	0.90620	-2.7	5.8	4.92	0.64577	.	0.056785	0.64402	D	0.000001	D	0.87398	0.6167	L	0.49455	1.56	0.58432	D	0.999997	B	0.33345	0.409	B	0.33620	0.167	D	0.84363	0.0539	10	0.22109	T	0.4	0.6789	14.7789	0.69751	0.0:0.1451:0.8549:0.0	.	645	Q8WUM9	S20A1_HUMAN	H	645	ENSP00000272542:R645H	ENSP00000272542:R645H	R	+	2	0	SLC20A1	113136967	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.797000	0.75150	1.450000	0.47717	0.655000	0.94253	CGT		0.483	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		30	50	0	0	0	1	0	30	50				
DZIP1	22873	broad.mit.edu	37	13	96239874	96239874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96239874C>T	ENST00000376829.2	-	20	2988	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	DZIP1_ENST00000361396.2_Missense_Mutation_p.G694R|DZIP1_ENST00000361156.3_Missense_Mutation_p.G694R|DZIP1_ENST00000347108.3_Missense_Mutation_p.G713R	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	713					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G713W(1)|p.G694W(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGTTCTTCCCGAAGCTGCCC	0.572																																						ENST00000347108.3																			2	Substitution - Missense(2)	p.G713W(1)|p.G694W(1)	lung(2)	endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2137-2139)Ggg>Agg		DAZ interacting zinc finger protein 1							146.0	123.0	131.0					13																	96239874		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96239874C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2137G>A	13.37:g.96239874C>T	ENSP00000366025:p.Gly713Arg					DZIP1_ENST00000376829.2_Missense_Mutation_p.G713R|DZIP1_ENST00000361156.3_Missense_Mutation_p.G694R|DZIP1_ENST00000361396.2_Missense_Mutation_p.G694R	p.G713R			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		18	2569	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		713					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2137G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849170	0.32699	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.35	4.5	0.54988	.	1.193210	0.05714	N	0.596435	T	0.41604	0.1166	M	0.71581	2.175	0.09310	N	1	B;B	0.25772	0.134;0.082	B;B	0.20767	0.031;0.014	T	0.36480	-0.9746	10	0.59425	D	0.04	-0.0184	9.0232	0.36213	0.213:0.6529:0.1341:0.0	.	694;713	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	R	713;694;694;713	ENSP00000257312:G713R;ENSP00000355018:G694R;ENSP00000355175:G694R;ENSP00000366025:G713R	ENSP00000257312:G713R	G	-	1	0	DZIP1	95037875	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.302000	0.19192	1.235000	0.43724	0.655000	0.94253	GGG		0.572	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		5	47	0	0	0	1	0	5	47				
CAPN9	10753	broad.mit.edu	37	1	230891088	230891088	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230891088C>T	ENST00000271971.2	+	2	332	c.219C>T	c.(217-219)atC>atT	p.I73I	CAPN9_ENST00000354537.1_Silent_p.I73I|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Intron	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	73	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCCAGGAAATCGTGAAAAACC	0.537																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(217-219)atC>atT		calpain 9							78.0	75.0	76.0					1																	230891088		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230891088C>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.219C>T	1.37:g.230891088C>T						RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000271971.2_Silent_p.I73I	p.I73I	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			2	301	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	73			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.219C>T	CCDS1586.1																																																																																				0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		11	39	0	0	0	1	0	11	39				
LGALS3BP	3959	broad.mit.edu	37	17	76968416	76968416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76968416C>T	ENST00000262776.3	-	6	1308	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	334	BACK.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCATGGGAGGCACGCTCCCCC	0.637																																					GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1000-1002)Gcc>Acc		lectin, galactoside-binding, soluble, 3 binding protein							50.0	51.0	51.0					17																	76968416		2203	4300	6503	SO:0001583	missense	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76968416C>T	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1000G>A	17.37:g.76968416C>T	ENSP00000262776:p.Ala334Thr					LGALS3BP_ENST00000591778.1_3'UTR	p.A334T	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1308	-			334			BACK.		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	c.1000G>A	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	C	0.382	-0.927936	0.02377	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.68479	-0.33	3.65	-4.17	0.03857	BTB/Kelch-associated (2);	2.057820	0.02533	N	0.093849	T	0.41213	0.1149	N	0.13043	0.29	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.10847	-1.0612	10	0.16896	T	0.51	-4.7002	0.9874	0.01449	0.1463:0.2152:0.3164:0.3221	.	334	Q08380	LG3BP_HUMAN	T	334;322	ENSP00000262776:A334T	ENSP00000262776:A334T	A	-	1	0	LGALS3BP	74480011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.540000	0.06106	-0.797000	0.04450	-0.305000	0.09177	GCC		0.637	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		5	54	0	0	0	1	0	5	54				
AFAP1	60312	broad.mit.edu	37	4	7844934	7844934	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7844934G>T	ENST00000360265.4	-	4	712	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	AFAP1_ENST00000358461.2_Missense_Mutation_p.L160M|AFAP1_ENST00000382543.3_Missense_Mutation_p.L160M|AFAP1_ENST00000420658.1_Missense_Mutation_p.L160M			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	160	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTCCGCAGCAGGAAGGCGCAG	0.552																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(478-480)Ctg>Atg		actin filament associated protein 1							104.0	93.0	97.0					4																	7844934		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7844934G>T	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.478C>A	4.37:g.7844934G>T	ENSP00000353402:p.Leu160Met					AFAP1_ENST00000360265.4_Missense_Mutation_p.L160M|AFAP1_ENST00000358461.2_Missense_Mutation_p.L160M|AFAP1_ENST00000382543.3_Missense_Mutation_p.L160M	p.L160M	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			5	750	-			160			PH 1.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.478C>A	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489965	0.64074	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.28	1.59	0.23543	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.67683	0.2919	M	0.84846	2.72	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67677	-0.5609	10	0.87932	D	0	-17.0803	9.9159	0.41434	0.2323:0.0:0.7677:0.0	.	160;160	E9PDT7;Q8N556	.;AFAP1_HUMAN	M	160	ENSP00000353402:L160M;ENSP00000410689:L160M;ENSP00000351245:L160M;ENSP00000371983:L160M	ENSP00000351245:L160M	L	-	1	2	AFAP1	7895834	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	2.604000	0.46274	-0.008000	0.14320	-0.687000	0.03738	CTG		0.552	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		28	31	1	0	1.08312e-15	1	1.39118e-15	28	31				
WDR31	114987	broad.mit.edu	37	9	116085392	116085392	+	Missense_Mutation	SNP	C	C	T	rs367623417		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116085392C>T	ENST00000374193.4	-	6	614	c.368G>A	c.(367-369)cGt>cAt	p.R123H	WDR31_ENST00000374195.3_De_novo_Start_OutOfFrame|WDR31_ENST00000341761.4_Missense_Mutation_p.R122H|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	123										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CATCCTGTCACGAGAGGCACT	0.512																																						ENST00000374195.3																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6								WD repeat domain 31		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	110.0	96.0	101.0		368,365	6.1	1.0	9		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR31	NM_001012361.2,NM_145241.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	123/368,122/367	116085392	1,13005	2203	4300	6503	SO:0001583	missense	114987							g.chr9:116085392C>T	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.368G>A	9.37:g.116085392C>T	ENSP00000363308:p.Arg123His					WDR31_ENST00000341761.4_Missense_Mutation_p.R122H|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374193.4_Missense_Mutation_p.R123H				Q8NA23	WDR31_HUMAN			0	453	-								Q5W0T9|Q96EG8	Translation_Start_Site	SNP	ENST00000374193.4	37		CCDS35110.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503559	0.96371	0.0	1.16E-4	ENSG00000148225	ENST00000374193;ENST00000341761;ENST00000465979	T;T;T	0.63096	-0.02;-0.02;-0.02	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	N	0.25789	0.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60403	-0.7270	10	0.14656	T	0.56	-16.237	19.6516	0.95815	0.0:1.0:0.0:0.0	.	123;122	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	H	123;122;55	ENSP00000363308:R123H;ENSP00000345027:R122H;ENSP00000419246:R55H	ENSP00000345027:R122H	R	-	2	0	WDR31	115125213	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.596000	0.74113	2.894000	0.99253	0.655000	0.94253	CGT		0.512	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		8	29	0	0	0	1	0	8	29				
NOC3L	64318	broad.mit.edu	37	10	96109022	96109022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96109022G>A	ENST00000371361.3	-	10	1342	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	NOC3L_ENST00000543788.1_Silent_p.Y152Y|NOC3L_ENST00000371350.1_Silent_p.Y414Y|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	414					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCTAACTTCGTAATTTCTGC	0.323																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(1240-1242)taC>taT		nucleolar complex associated 3 homolog (S. cerevisiae)							72.0	75.0	74.0					10																	96109022		2203	4300	6503	SO:0001819	synonymous_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96109022G>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1242C>T	10.37:g.96109022G>A						NOC3L_ENST00000543788.1_Silent_p.Y152Y|NOC3L_ENST00000371350.1_Silent_p.Y414Y|NOC3L_ENST00000463649.1_5'UTR	p.Y414Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			10	1342	-		Colorectal(252;0.0897)	414					Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	c.1242C>T	CCDS7433.1																																																																																				0.323	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		25	40	0	0	0	1	0	25	40				
RSF1	51773	broad.mit.edu	37	11	77387955	77387955	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77387955T>C	ENST00000308488.6	-	13	3525	c.3223A>G	c.(3223-3225)Aaa>Gaa	p.K1075E	RSF1_ENST00000480887.1_Missense_Mutation_p.K823E|RSF1_ENST00000360355.2_Missense_Mutation_p.K1044E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1075					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGGGGTCGTTTATTTTCTTTT	0.468																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3223-3225)Aaa>Gaa		remodeling and spacing factor 1							95.0	98.0	97.0					11																	77387955		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77387955T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3223A>G	11.37:g.77387955T>C	ENSP00000311513:p.Lys1075Glu					RSF1_ENST00000360355.2_Missense_Mutation_p.K1044E|RSF1_ENST00000480887.1_Missense_Mutation_p.K823E	p.K1075E			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		13	3525	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1075					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.3223A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946933	0.73672	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	T;D;D;T	0.86769	0.42;-2.15;-2.17;0.42	4.8	4.8	0.61643	.	0.000000	0.53938	D	0.000056	T	0.81795	0.4898	N	0.11789	0.175	0.37269	D	0.907315	D	0.57257	0.979	P	0.49999	0.628	D	0.86010	0.1500	10	0.49607	T	0.09	-21.4491	14.4797	0.67573	0.0:0.0:0.0:1.0	.	1075	Q96T23	RSF1_HUMAN	E	1075;823;1044;184	ENSP00000311513:K1075E;ENSP00000434509:K823E;ENSP00000353511:K1044E;ENSP00000433603:K184E	ENSP00000311513:K1075E	K	-	1	0	RSF1	77065603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.019000	0.57181	2.157000	0.67596	0.533000	0.62120	AAA		0.468	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		7	114	0	0	0	1	0	7	114				
MAPK7	5598	broad.mit.edu	37	17	19285153	19285153	+	Missense_Mutation	SNP	C	C	T	rs541052326		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19285153C>T	ENST00000308406.5	+	5	1923	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.R513C|MAPK7_ENST00000299612.7_Missense_Mutation_p.R374C|MAPK7_ENST00000395602.4_Missense_Mutation_p.R513C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	513	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Nuclear localization signal. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCcaggagcgccagcggga	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		11636	0.0		0.001	False		,,,				2504	0.0					ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(1537-1539)Cgc>Tgc		mitogen-activated protein kinase 7							11.0	22.0	18.0					17																	19285153		2175	4237	6412	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19285153C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1537C>T	17.37:g.19285153C>T	ENSP00000311005:p.Arg513Cys					MAPK7_ENST00000395602.4_Missense_Mutation_p.R513C|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R374C|MAPK7_ENST00000395604.3_Missense_Mutation_p.R513C	p.R513C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			5	1923	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		513			Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Nuclear localization signal (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.1537C>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702988	0.68501	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	L	0.43152	1.355	0.52501	D	0.999956	D	0.76494	0.999	P	0.50754	0.649	T	0.75657	-0.3242	10	0.87932	D	0	-16.1758	14.4425	0.67327	0.0:1.0:0.0:0.0	.	513	Q13164	MK07_HUMAN	C	513;374;513;513	ENSP00000311005:R513C;ENSP00000299612:R374C;ENSP00000378968:R513C;ENSP00000378966:R513C	ENSP00000299612:R374C	R	+	1	0	MAPK7	19225746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.369000	0.59511	2.258000	0.74832	0.561000	0.74099	CGC		0.692	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		4	2	0	0	0	1	0	4	2				
FANCA	2175	broad.mit.edu	37	16	89849305	89849305	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89849305G>T	ENST00000389301.3	-	17	1618	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	FANCA_ENST00000568369.1_Missense_Mutation_p.L530I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	530					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCCTCGTAGAGTCCCATGTTT	0.502			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(1588-1590)Ctc>Atc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							73.0	70.0	71.0					16																	89849305		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89849305G>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1588C>A	16.37:g.89849305G>T	ENSP00000373952:p.Leu530Ile					FANCA_ENST00000568369.1_Missense_Mutation_p.L530I	p.L530I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	17	1618	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	530					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.1588C>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383821	0.61845	.	.	ENSG00000187741	ENST00000389301	D	0.86097	-2.07	5.62	4.67	0.58626	.	0.000000	0.51477	D	0.000089	D	0.87067	0.6085	M	0.66506	2.035	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.55161	0.77;0.77	D	0.85075	0.0942	10	0.35671	T	0.21	-28.0937	9.5129	0.39087	0.1544:0.0:0.8456:0.0	.	530;530	B4DRI7;O15360	.;FANCA_HUMAN	I	530	ENSP00000373952:L530I	ENSP00000373952:L530I	L	-	1	0	FANCA	88376806	0.997000	0.39634	0.992000	0.48379	0.945000	0.59286	2.721000	0.47260	2.697000	0.92050	0.549000	0.68633	CTC		0.502	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			3	33	1	0	0.014758	1	0.0152625	3	33				
DHX34	9704	broad.mit.edu	37	19	47879311	47879311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47879311C>T	ENST00000328771.4	+	11	2787	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	813					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCACAGCTGGCCGTCCCCGAC	0.657																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2437-2439)gCc>gTc		DEAH (Asp-Glu-Ala-His) box polypeptide 34							37.0	34.0	35.0					19																	47879311		2181	4238	6419	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47879311C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2438C>T	19.37:g.47879311C>T	ENSP00000331907:p.Ala813Val						p.A813V	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	11	2787	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	813					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.2438C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694130	0.68386	.	.	ENSG00000134815	ENST00000328771	T	0.07908	3.15	5.17	5.17	0.71159	Domain of unknown function DUF1605 (1);	0.096097	0.44285	D	0.000477	T	0.32823	0.0842	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.79108	0.992	T	0.13229	-1.0517	10	0.87932	D	0	-30.0782	13.2105	0.59821	0.0:0.8395:0.1605:0.0	.	813	Q14147	DHX34_HUMAN	V	813	ENSP00000331907:A813V	ENSP00000331907:A813V	A	+	2	0	DHX34	52571109	1.000000	0.71417	0.918000	0.36340	0.185000	0.23345	5.445000	0.66594	2.414000	0.81942	0.655000	0.94253	GCC		0.657	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		13	25	0	0	0	1	0	13	25				
CAMK4	814	broad.mit.edu	37	5	110784900	110784900	+	Splice_Site	SNP	C	C	T	rs199946284		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110784900C>T	ENST00000282356.4	+	7	1022	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CAMK4_ENST00000512453.1_Splice_Site_p.C208C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.C208C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGGGTACTGCGGTATGCTCT	0.274																																						ENST00000282356.4																			1	Substitution - coding silent(1)	p.C208C(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.e7+1		calcium/calmodulin-dependent protein kinase IV		C		0,4404		0,0,2202	59.0	61.0	61.0		624	1.0	1.0	5		61	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice	CAMK4	NM_001744.4		0,3,6499	TT,TC,CC		0.0349,0.0,0.0231		208/474	110784900	3,13001	2202	4300	6502	SO:0001630	splice_region_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110784900C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.625+1C>T	5.37:g.110784900C>T						CAMK4_ENST00000512453.1_Splice_Site_p.C208_splice	p.C208_splice	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	7	1022	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	208			Protein kinase.		D3DSZ7	Splice_Site	SNP	ENST00000282356.4	37	c.625_splice	CCDS4103.1																																																																																				0.274	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	Silent	6	25	0	0	0	1	0	6	25				
TRIM28	10155	broad.mit.edu	37	19	59061149	59061149	+	Missense_Mutation	SNP	G	G	T	rs146551435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061149G>T	ENST00000253024.5	+	14	2317	c.2028G>T	c.(2026-2028)aaG>aaT	p.K676N	TRIM28_ENST00000341753.6_Missense_Mutation_p.K594N	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	676					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGACCTGAAGGAGGAGGATG	0.597																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(2026-2028)aaG>aaT		tripartite motif containing 28							112.0	103.0	106.0					19																	59061149		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061149G>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2028G>T	19.37:g.59061149G>T	ENSP00000253024:p.Lys676Asn					TRIM28_ENST00000341753.6_Missense_Mutation_p.K594N	p.K676N	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	14	2317	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	676					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2028G>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826580	0.32329	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.69040	-0.17;-0.37	4.58	0.0234	0.14137	Zinc finger, FYVE/PHD-type (1);	0.154870	0.41396	D	0.000900	T	0.56381	0.1981	N	0.08118	0	0.32279	N	0.567814	D;P;D	0.58970	0.984;0.921;0.973	D;P;P	0.65010	0.931;0.814;0.661	T	0.61352	-0.7080	10	0.51188	T	0.08	-20.179	6.2761	0.20981	0.455:0.0:0.545:0.0	.	594;676;676	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	N	676;594	ENSP00000253024:K676N;ENSP00000342232:K594N	ENSP00000253024:K676N	K	+	3	2	TRIM28	63752961	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.843000	0.27640	0.248000	0.21435	0.443000	0.29094	AAG		0.597	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		6	121	1	0	0.00198382	1	0.00210581	6	121				
TIE1	7075	broad.mit.edu	37	1	43770818	43770818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770818G>A	ENST00000372476.3	+	2	434	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000441333.2_Missense_Mutation_p.V119M|TIE1_ENST00000538015.1_Missense_Mutation_p.V119M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	119					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTCATCTACGTGCACAACAG	0.697																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(355-357)Gtg>Atg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							36.0	38.0	38.0					1																	43770818		2202	4299	6501	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770818G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.355G>A	1.37:g.43770818G>A	ENSP00000361554:p.Val119Met					TIE1_ENST00000441333.2_Missense_Mutation_p.V119M|TIE1_ENST00000538015.1_Missense_Mutation_p.V119M	p.V119M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			2	434	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	119					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.355G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	0.075	-1.195407	0.01594	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.75050	-0.9;1.59;0.98	4.33	3.4	0.38934	.	0.000000	0.31113	U	0.008235	T	0.75620	0.3874	L	0.39020	1.185	0.80722	D	1	P;D;D;D;D;P	0.89917	0.852;1.0;1.0;1.0;1.0;0.852	B;D;D;D;D;B	0.87578	0.067;0.994;0.997;0.998;0.996;0.067	T	0.70263	-0.4920	10	0.06365	T	0.9	.	12.6448	0.56728	0.0:0.166:0.834:0.0	.	74;119;119;119;119;119	B4DTW8;B5A952;B5A950;B5A948;B5A951;P35590	.;.;.;.;.;TIE1_HUMAN	M	119	ENSP00000361554:V119M;ENSP00000401903:V119M;ENSP00000440063:V119M	ENSP00000361554:V119M	V	+	1	0	TIE1	43543405	1.000000	0.71417	0.920000	0.36463	0.186000	0.23388	4.302000	0.59092	0.812000	0.34326	0.561000	0.74099	GTG		0.697	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		3	12	0	0	0	1	0	3	12				
TULP3	7289	broad.mit.edu	37	12	3039511	3039511	+	Splice_Site	SNP	C	C	T	rs540827887		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3039511C>T	ENST00000448120.2	+	5	543	c.492C>T	c.(490-492)acC>acT	p.T164T	RNU7-166P_ENST00000459397.1_RNA|TULP3_ENST00000397132.2_Splice_Site_p.T164T	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	164					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAATTCAACCGTATGTAGTT	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		17798	0.0		0.001	False		,,,				2504	0.0					ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e5+1		tubby like protein 3							69.0	64.0	66.0					12																	3039511		2203	4300	6503	SO:0001630	splice_region_variant	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3039511C>T	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.492+1C>T	12.37:g.3039511C>T						TULP3_ENST00000397132.2_Splice_Site_p.T164_splice	p.T164_splice	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	543	+			164					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Splice_Site	SNP	ENST00000448120.2	37	c.492_splice	CCDS8519.1																																																																																				0.333	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324	Silent	6	20	0	0	0	1	0	6	20				
KMT2C	58508	broad.mit.edu	37	7	151859837	151859837	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151859837T>C	ENST00000262189.6	-	43	11043	c.10825A>G	c.(10825-10827)Aag>Gag	p.K3609E	KMT2C_ENST00000355193.2_Missense_Mutation_p.K3609E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3609					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R3606fs*5(1)									cttttcttctttcttgttctt	0.433																																						ENST00000355193.2																			1	Deletion - Frameshift(1)	p.R3606fs*5(1)	pancreas(1)								c.(10825-10827)Aag>Gag		lysine (K)-specific methyltransferase 2C							73.0	68.0	70.0					7																	151859837		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151859837T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10825A>G	7.37:g.151859837T>C	ENSP00000262189:p.Lys3609Glu					KMT2C_ENST00000262189.6_Missense_Mutation_p.K3609E	p.K3609E							43	11043	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10825A>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.80|17.80	3.477578|3.477578	0.63849|0.63849	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.90004|.	-1.96;-1.87;-2.6|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|0.000000	0.48767|0.48767	D|D	0.000169|0.000169	T|T	0.72724|0.72724	0.3496|0.3496	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.997;1.0;1.0|.	D;D;D|.	0.85130|.	0.985;0.997;0.997|.	T|T	0.72554|0.72554	-0.4258|-0.4258	10|6	0.52906|.	T|.	0.07|.	.|.	15.6604|15.6604	0.77182|0.77182	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3609;2670;3609|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	E|R	3609;3609;195|1114	ENSP00000262189:K3609E;ENSP00000347325:K3609E;ENSP00000410411:K195E|.	ENSP00000262189:K3609E|.	K|K	-|-	1|2	0|0	MLL3|MLL3	151490770|151490770	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.943000|0.943000	0.58893|0.58893	7.691000|7.691000	0.84191|0.84191	2.095000|2.095000	0.63458|0.63458	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	99	0	0	0	1	0	7	99				
MRPL14	64928	broad.mit.edu	37	6	44081740	44081740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081740C>T	ENST00000372014.3	-	3	409	c.278G>A	c.(277-279)gGc>gAc	p.G93D		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	93					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CATTCGGGGGCCAGGCATGCA	0.557																																						ENST00000372014.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(277-279)gGc>gAc		mitochondrial ribosomal protein L14							121.0	124.0	123.0					6																	44081740		2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44081740C>T	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.278G>A	6.37:g.44081740C>T	ENSP00000361084:p.Gly93Asp						p.G93D	NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		3	409	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		93					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.278G>A	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348597	0.61183	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.69	5.69	0.88448	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71699	-0.4514	9	0.34782	T	0.22	-16.3319	18.8032	0.92027	0.0:1.0:0.0:0.0	.	93	Q6P1L8	RM14_HUMAN	D	93	.	ENSP00000361084:G93D	G	-	2	0	MRPL14	44189718	1.000000	0.71417	0.867000	0.34043	0.509000	0.34042	7.810000	0.86072	2.681000	0.91329	0.561000	0.74099	GGC		0.557	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		55	91	0	0	0	1	0	55	91				
ABCA6	23460	broad.mit.edu	37	17	67124790	67124790	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67124790G>A	ENST00000284425.2	-	8	1263	c.1089C>T	c.(1087-1089)agC>agT	p.S363S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	363					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGCAAAAGGGCTACAAATAT	0.373																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1087-1089)agC>agT		ATP-binding cassette, sub-family A (ABC1), member 6							89.0	89.0	89.0					17																	67124790		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67124790G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1089C>T	17.37:g.67124790G>A							p.S363S	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			8	1263	-	Breast(10;5.65e-12)		363					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.1089C>T	CCDS11683.1																																																																																				0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		25	47	0	0	0	1	0	25	47				
GCLC	2729	broad.mit.edu	37	6	53370685	53370685	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370685C>T	ENST00000229416.6	-	11	1689	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	402					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	AATTTGTGGACTGAATATTCT	0.393																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1204-1206)caG>caA		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						119.0	114.0	116.0					6																	53370685		2203	4300	6503	SO:0001819	synonymous_variant	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53370685C>T	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1206G>A	6.37:g.53370685C>T						RP1-27K12.4_ENST00000508884.1_RNA	p.Q402Q	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			11	1689	-	Lung NSC(77;0.0137)		402					Q14399	Silent	SNP	ENST00000229416.6	37	c.1206G>A	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	9.526	1.109447	0.20714	.	.	ENSG00000001084	ENST00000514373	.	.	.	5.64	4.75	0.60458	.	.	.	.	.	T	0.47673	0.1458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50056	-0.8872	4	.	.	.	.	9.4432	0.38681	0.1443:0.7844:0.0:0.0713	.	.	.	.	N	4	.	.	S	-	2	0	GCLC	53478644	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.069000	0.57541	1.454000	0.47793	0.563000	0.77884	AGT		0.393	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			6	85	0	0	0	1	0	6	85				
SYNE1	23345	broad.mit.edu	37	6	152728208	152728208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152728208C>A	ENST00000367255.5	-	45	7265	c.6664G>T	c.(6664-6666)Gaa>Taa	p.E2222*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2222*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2259*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2229*|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2229*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2222					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGTTTTCTGCCATCTGT	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6664-6666)Gaa>Taa		spectrin repeat containing, nuclear envelope 1							199.0	164.0	176.0					6																	152728208		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152728208C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6664G>T	6.37:g.152728208C>A	ENSP00000356224:p.Glu2222*	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2259*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2222*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2229*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2229*	p.E2222*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	45	7265	-		Ovarian(120;0.0955)	2222					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.6664G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	48	14.540243	0.99800	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.4	3.61	0.41365	.	0.290309	0.29300	N	0.012542	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	15.3461	0.74337	0.0:0.872:0.0:0.128	.	.	.	.	X	2222;2229;2222;2229;2259	.	ENSP00000265368:E2222X	E	-	1	0	SYNE1	152769901	1.000000	0.71417	0.102000	0.21198	0.071000	0.16799	3.244000	0.51399	0.370000	0.24538	-1.134000	0.01955	GAA		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	68	1	0	0.0215528	1	0.0221649	6	68				
MTR	4548	broad.mit.edu	37	1	237057785	237057785	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237057785C>T	ENST00000366577.5	+	30	3727	c.3333C>T	c.(3331-3333)agC>agT	p.S1111S	MTR_ENST00000535889.1_Silent_p.S1060S|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1111	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGAGCTGAGCAAGGCCTATG	0.587																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3331-3333)agC>agT		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						130.0	106.0	114.0					1																	237057785		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237057785C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3333C>T	1.37:g.237057785C>T						MTR_ENST00000535889.1_Silent_p.S1060S|MTR_ENST00000470570.1_3'UTR	p.S1111S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	30	3727	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1111			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.3333C>T	CCDS1614.1																																																																																				0.587	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		21	58	0	0	0	1	0	21	58				
PDCL3	79031	broad.mit.edu	37	2	101183071	101183071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101183071G>A	ENST00000264254.6	+	2	491	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	38					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GAGGAGCAGCGCATCCTCCAG	0.527																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(112-114)cGc>cAc		phosducin-like 3							65.0	64.0	65.0					2																	101183071		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101183071G>A	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.113G>A	2.37:g.101183071G>A	ENSP00000264254:p.Arg38His						p.R38H	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			2	491	+			38					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.113G>A	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	2.292	-0.362296	0.05103	.	.	ENSG00000115539	ENST00000264254	T	0.50001	0.76	4.61	-4.18	0.03846	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	2.104660	0.01905	N	0.039443	T	0.19525	0.0469	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11567	-1.0582	10	0.40728	T	0.16	-26.3329	3.5646	0.07895	0.492:0.1026:0.303:0.1024	.	38	Q9H2J4	PDCL3_HUMAN	H	38	ENSP00000264254:R38H	ENSP00000264254:R38H	R	+	2	0	PDCL3	100549503	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-2.625000	0.00875	-0.708000	0.05015	-0.542000	0.04241	CGC		0.527	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		17	24	0	0	0	1	0	17	24				
KLHDC8A	55220	broad.mit.edu	37	1	205306572	205306572	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205306572C>A	ENST00000367156.3	-	9	1824	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.Q202H|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.Q336H|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.Q223H|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.Q336H	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	336										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACTCAGACCCTGGTTGACAC	0.572																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(1006-1008)caG>caT		kelch domain containing 8A							195.0	167.0	177.0					1																	205306572		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306572C>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.1008G>T	1.37:g.205306572C>A	ENSP00000356124:p.Gln336His					KLHDC8A_ENST00000537168.1_Missense_Mutation_p.Q223H|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.Q202H|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.Q336H|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.Q336H	p.Q336H	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		9	1824	-	Breast(84;0.23)		336					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.1008G>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421659	0.83559	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.43	5.43	0.79202	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	L	0.59436	1.845	0.53688	D	0.999974	D;D	0.69078	0.997;0.99	D;D	0.81914	0.995;0.979	T	0.79895	-0.1610	10	0.36615	T	0.2	-26.7319	18.8332	0.92150	0.0:1.0:0.0:0.0	.	223;336	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	H	336;336;336;223	ENSP00000356123:Q336H;ENSP00000356124:Q336H;ENSP00000442229:Q336H;ENSP00000443447:Q223H	ENSP00000356123:Q336H	Q	-	3	2	KLHDC8A	203573195	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.214000	0.65236	2.539000	0.85634	0.591000	0.81541	CAG		0.572	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		8	144	1	0	0.000157383	1	0.00017284	8	144				
ANKRD16	54522	broad.mit.edu	37	10	5927718	5927718	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5927718G>A	ENST00000380094.5	-	3	1089	c.546C>T	c.(544-546)ggC>ggT	p.G182G	ANKRD16_ENST00000191063.8_Silent_p.G182G|ANKRD16_ENST00000380092.4_Silent_p.G182G	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	182										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CCTCCAAATGGCCATGCATTG	0.443																																						ENST00000380094.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						c.(544-546)ggC>ggT		ankyrin repeat domain 16							121.0	109.0	113.0					10																	5927718		2203	4300	6503	SO:0001819	synonymous_variant	54522							g.chr10:5927718G>A	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.546C>T	10.37:g.5927718G>A						ANKRD16_ENST00000380092.4_Silent_p.G182G|ANKRD16_ENST00000191063.8_Silent_p.G182G	p.G182G	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN			3	1089	-			182					A6NEF0|F8WEI4|Q9NT01	Silent	SNP	ENST00000380094.5	37	c.546C>T	CCDS31136.1																																																																																				0.443	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		29	43	0	0	0	1	0	29	43				
FAM186B	84070	broad.mit.edu	37	12	49982250	49982250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49982250G>T	ENST00000257894.2	-	6	2682	c.2521C>A	c.(2521-2523)Ctg>Atg	p.L841M	FAM186B_ENST00000544141.1_Missense_Mutation_p.L751M|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	841						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTGCAGGGGCACACAT	0.637																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2251-2253)Ctg>Atg		family with sequence similarity 186, member B							66.0	71.0	69.0					12																	49982250		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49982250G>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2521C>A	12.37:g.49982250G>T	ENSP00000257894:p.Leu841Met					FAM186B_ENST00000257894.2_Missense_Mutation_p.L841M|FAM186B_ENST00000551047.1_Intron	p.L751M			Q8IYM0	F186B_HUMAN			6	2850	-			841					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.2251C>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231799	0.39399	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.24538	1.85;2.52;2.74	4.53	1.66	0.24008	.	1.342460	0.05471	N	0.553108	T	0.39655	0.1086	L	0.50919	1.6	0.09310	N	1	D;D	0.61697	0.99;0.971	D;P	0.63192	0.912;0.875	T	0.13388	-1.0511	10	0.48119	T	0.1	-1.0371	4.7368	0.12991	0.1942:0.1781:0.6278:0.0	.	751;841	B4DZ15;Q8IYM0	.;F186B_HUMAN	M	751;454;841	ENSP00000438569:L751M;ENSP00000436995:L454M;ENSP00000257894:L841M	ENSP00000257894:L841M	L	-	1	2	FAM186B	48268517	0.417000	0.25432	0.157000	0.22605	0.047000	0.14425	0.494000	0.22467	0.383000	0.24910	-0.150000	0.13652	CTG		0.637	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		28	55	1	0	2.65835e-16	1	3.4289e-16	28	55				
ELFN2	114794	broad.mit.edu	37	22	37770817	37770817	+	Missense_Mutation	SNP	C	C	T	rs369242294		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770817C>T	ENST00000402918.2	-	3	1543	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	253					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCACGGGCCGGGCGGGCAG	0.687																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(757-759)cGg>cAg		extracellular leucine-rich repeat and fibronectin type III domain containing 2		C	GLN/ARG	0,4406		0,0,2203	34.0	42.0	39.0		758	5.0	1.0	22		39	1,8595	1.2+/-3.3	0,1,4297	no	missense	ELFN2	NM_052906.3	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	253/821	37770817	1,13001	2203	4298	6501	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37770817C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.758G>A	22.37:g.37770817C>T	ENSP00000385277:p.Arg253Gln					ELFN2_ENST00000349653.3_Missense_Mutation_p.R253Q|RP1-63G5.5_ENST00000430883.1_RNA	p.R253Q	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1543	-	Melanoma(58;0.0574)		253					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.758G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	7.680	0.688848	0.14973	0.0	1.16E-4	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.50001	0.76;0.76	4.96	4.96	0.65561	.	0.207411	0.41712	D	0.000840	T	0.30070	0.0753	L	0.29908	0.895	0.27167	N	0.961021	B	0.34399	0.452	B	0.26416	0.069	T	0.14200	-1.0481	10	0.14252	T	0.57	-25.9957	11.9228	0.52801	0.2953:0.7047:0.0:0.0	.	253	Q5R3F8	PPR29_HUMAN	Q	253	ENSP00000300147:R253Q;ENSP00000385277:R253Q	ENSP00000300147:R253Q	R	-	2	0	ELFN2	36100763	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	2.985000	0.49362	2.468000	0.83385	0.609000	0.83330	CGG		0.687	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		16	20	0	0	0	1	0	16	20				
TRIM17	51127	broad.mit.edu	37	1	228598777	228598777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228598777G>A	ENST00000366697.2	-	3	1582	c.626C>T	c.(625-627)aCg>aTg	p.T209M	TRIM17_ENST00000366698.2_Missense_Mutation_p.T209M|TRIM17_ENST00000456946.2_Missense_Mutation_p.T209M|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.T209M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	209					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTCTTCTTCCGTCTCCAGAGC	0.617																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(625-627)aCg>aTg		tripartite motif containing 17							70.0	77.0	74.0					1																	228598777		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228598777G>A	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.626C>T	1.37:g.228598777G>A	ENSP00000355658:p.Thr209Met					TRIM17_ENST00000366698.2_Missense_Mutation_p.T209M|TRIM17_ENST00000295033.3_Missense_Mutation_p.T209M|TRIM17_ENST00000456946.2_Missense_Mutation_p.T209M	p.T209M			Q9Y577	TRI17_HUMAN			3	1582	-		Prostate(94;0.0724)	209					B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.626C>T	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	g	3.064	-0.192604	0.06259	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800	T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53	4.08	-1.27	0.09347	.	1.644400	0.03590	N	0.231679	T	0.03871	0.0109	N	0.02539	-0.55	0.09310	N	1	D;B	0.60575	0.988;0.244	P;B	0.47470	0.548;0.005	T	0.16247	-1.0409	10	0.59425	D	0.04	.	4.8081	0.13329	0.0:0.1825:0.3026:0.5149	.	209;209	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	M	209;209;209;209;182	ENSP00000355658:T209M;ENSP00000355659:T209M;ENSP00000295033:T209M;ENSP00000403312:T209M;ENSP00000430468:T182M	ENSP00000295033:T209M	T	-	2	0	TRIM17	226665400	0.012000	0.17670	0.249000	0.24280	0.006000	0.05464	-0.058000	0.11750	-0.344000	0.08338	-1.383000	0.01170	ACG		0.617	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		40	50	0	0	0	1	0	40	50				
CALD1	800	broad.mit.edu	37	7	134618793	134618793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134618793G>T	ENST00000361675.2	+	5	1502	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	425					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAAAGCACAAGAAGATAAACT	0.373																																						ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1273-1275)Gaa>Taa		caldesmon 1							117.0	123.0	121.0					7																	134618793		2203	4300	6503	SO:0001587	stop_gained	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618793G>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1273G>T	7.37:g.134618793G>T	ENSP00000354826:p.Glu425*					CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron	p.E425*			Q05682	CALD1_HUMAN			5	1502	+			425					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Nonsense_Mutation	SNP	ENST00000361675.2	37	c.1273G>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	37	6.287309	0.97444	.	.	ENSG00000122786	ENST00000361675	.	.	.	5.22	5.22	0.72569	.	0.136549	0.31709	N	0.007192	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3479	16.9487	0.86237	0.0:0.0:1.0:0.0	.	.	.	.	X	425	.	.	E	+	1	0	CALD1	134269333	1.000000	0.71417	0.974000	0.42286	0.722000	0.41435	4.016000	0.57159	2.429000	0.82318	0.563000	0.77884	GAA		0.373	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		25	125	1	0	1.42536e-11	1	1.77909e-11	25	125				
CFHR2	3080	broad.mit.edu	37	1	196887380	196887380	+	Intron	SNP	C	C	A	rs536482365		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196887380C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.N280K|CFHR4_ENST00000367418.2_Missense_Mutation_p.N280K|CFHR4_ENST00000367416.2_Missense_Mutation_p.N526K|CFHR4_ENST00000608469.1_Missense_Mutation_p.N150K			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						ATAAAAATAACATACAGTTAA	0.274													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16031	0.0		0.0	False		,,,				2504	0.0					ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(1576-1578)aaC>aaA		complement factor H-related 4							66.0	73.0	71.0					1																	196887380		2195	4299	6494	SO:0001627	intron_variant	10877							g.chr1:196887380C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31205C>A	1.37:g.196887380C>A						CFHR4_ENST00000251424.4_Missense_Mutation_p.N280K|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.N280K	p.N526K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					10	1715	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1578C>A		.	.	.	.	.	.	.	.	.	.	C	14.89	2.670852	0.47781	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.85013	-1.93;-1.93;-1.93	3.24	0.671	0.17929	Complement control module (1);	.	.	.	.	D	0.86539	0.5957	M	0.69463	2.115	0.09310	N	1	D;D;P	0.71674	0.998;0.998;0.92	P;P;B	0.62435	0.902;0.886;0.262	T	0.73867	-0.3847	9	0.19590	T	0.45	.	4.1985	0.10455	0.0:0.5469:0.0:0.4531	.	526;527;280	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	K	526;280;280;280	ENSP00000356386:N526K;ENSP00000356388:N280K;ENSP00000251424:N280K	ENSP00000251424:N280K	N	+	3	2	CFHR4	195154003	0.939000	0.31865	0.050000	0.19076	0.257000	0.26127	0.180000	0.16860	0.451000	0.26802	0.436000	0.28706	AAC		0.274	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		33	40	1	0	7.11191e-15	1	9.09819e-15	33	40				
ATM	472	broad.mit.edu	37	11	108175415	108175415	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108175415T>G	ENST00000452508.2	+	38	5699	c.5510T>G	c.(5509-5511)tTt>tGt	p.F1837C	ATM_ENST00000278616.4_Missense_Mutation_p.F1837C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1837					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAAACTGACTTTTGTCAGACT	0.313			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5509-5511)tTt>tGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							72.0	70.0	71.0					11																	108175415		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108175415T>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5510T>G	11.37:g.108175415T>G	ENSP00000388058:p.Phe1837Cys	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.F1837C	p.F1837C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	5895	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1837					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5510T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234573	0.39498	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70164	-0.46;-0.46	5.52	5.52	0.82312	Armadillo-type fold (1);	0.524699	0.23382	N	0.048792	T	0.65322	0.2680	M	0.71581	2.175	0.35970	D	0.83524	B	0.20052	0.041	B	0.17979	0.02	T	0.70813	-0.4770	10	0.72032	D	0.01	.	11.0795	0.48051	0.1383:0.0:0.0:0.8617	.	1837	Q13315	ATM_HUMAN	C	1837	ENSP00000278616:F1837C;ENSP00000388058:F1837C	ENSP00000278616:F1837C	F	+	2	0	ATM	107680625	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.703000	0.54808	2.218000	0.71995	0.482000	0.46254	TTT		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		19	36	0	0	0	1	0	19	36				
TCF25	22980	broad.mit.edu	37	16	89960234	89960234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89960234G>A	ENST00000263346.8	+	7	852	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	TCF25_ENST00000263347.7_Missense_Mutation_p.A31T	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	266					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTTCCTGGTGGCCGTGGAGTC	0.602																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(796-798)Gcc>Acc		transcription factor 25 (basic helix-loop-helix)							125.0	94.0	105.0					16																	89960234		2197	4300	6497	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89960234G>A	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.796G>A	16.37:g.89960234G>A	ENSP00000263346:p.Ala266Thr					TCF25_ENST00000263347.7_Missense_Mutation_p.A31T	p.A266T	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	7	852	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	266					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.796G>A	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467256	0.84533	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	D;D	0.82344	-1.6;-1.6	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.048947	0.85682	D	0.000000	D	0.91637	0.7357	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.92527	0.6030	10	0.87932	D	0	.	18.1839	0.89787	0.0:0.0:1.0:0.0	.	31;266	Q9H384;Q9BQ70	.;TCF25_HUMAN	T	266;31	ENSP00000263346:A266T;ENSP00000263347:A31T	ENSP00000263346:A266T	A	+	1	0	TCF25	88487735	1.000000	0.71417	0.742000	0.31022	0.919000	0.55068	8.695000	0.91298	2.542000	0.85734	0.561000	0.74099	GCC		0.602	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		7	9	0	0	0	1	0	7	9				
NAGLU	4669	broad.mit.edu	37	17	40696246	40696246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40696246G>A	ENST00000225927.2	+	6	2323	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	741					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGGTGGCCGGCTCTTGGTGA	0.572																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(2221-2223)gGc>gAc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						33.0	35.0	34.0					17																	40696246		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40696246G>A		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.2222G>A	17.37:g.40696246G>A	ENSP00000225927:p.Gly741Asp					RP11-400F19.8_ENST00000585572.1_RNA	p.G741D	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2323	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	741						Missense_Mutation	SNP	ENST00000225927.2	37	c.2222G>A	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273808	0.59649	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.99121	-5.45	4.82	0.218	0.15270	.	0.536026	0.20671	N	0.087839	D	0.94735	0.8301	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	D	0.89177	0.3541	10	0.27785	T	0.31	-11.7878	4.2577	0.10726	0.0851:0.2908:0.4743:0.1498	.	741	P54802	ANAG_HUMAN	D	741;417	ENSP00000225927:G741D	ENSP00000225927:G741D	G	+	2	0	NAGLU	37949772	0.660000	0.27420	0.008000	0.14137	0.165000	0.22458	0.907000	0.28531	0.001000	0.14605	-0.304000	0.09214	GGC		0.572	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		17	26	0	0	0	1	0	17	26				
GALNT6	11226	broad.mit.edu	37	12	51759335	51759335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51759335G>A	ENST00000543196.2	-	4	898	c.693C>T	c.(691-693)taC>taT	p.Y231Y	GALNT6_ENST00000356317.3_Silent_p.Y231Y			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	231	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGCTTCACGTACTGCTCCA	0.632																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(691-693)taC>taT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							110.0	94.0	100.0					12																	51759335		2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51759335G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.693C>T	12.37:g.51759335G>A						GALNT6_ENST00000356317.3_Silent_p.Y231Y	p.Y231Y			Q8NCL4	GALT6_HUMAN			4	898	-			231			Catalytic subdomain A.		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.693C>T	CCDS8813.1																																																																																				0.632	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		40	42	0	0	0	1	0	40	42				
ZNF134	7693	broad.mit.edu	37	19	58132515	58132515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58132515C>T	ENST00000396161.5	+	3	1338	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGTCAAAGCCGTTTGAGTGC	0.428																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(1027-1029)cCg>cTg		zinc finger protein 134							168.0	169.0	169.0					19																	58132515		2144	4276	6420	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132515C>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1028C>T	19.37:g.58132515C>T	ENSP00000379464:p.Pro343Leu						p.P343L	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1338	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	343					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.1028C>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549224	0.65311	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.27557	1.66	4.52	3.46	0.39613	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54951	0.1890	M	0.79926	2.475	0.39096	D	0.96119	D	0.89917	1.0	D	0.70016	0.967	T	0.64453	-0.6404	9	0.72032	D	0.01	.	12.907	0.58158	0.1738:0.8262:0.0:0.0	.	343	P52741	ZN134_HUMAN	L	410;263;343	ENSP00000379464:P343L	ENSP00000379464:P343L	P	+	2	0	ZNF134	62824327	.	.	0.969000	0.41365	0.692000	0.40212	.	.	1.193000	0.43086	0.655000	0.94253	CCG		0.428	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		71	109	0	0	0	1	0	71	109				
CRNKL1	51340	broad.mit.edu	37	20	20036606	20036606	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20036606G>T	ENST00000377340.2	-	1	84	c.53C>A	c.(52-54)gCt>gAt	p.A18D	C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000245957.5_Intron|C20orf26_ENST00000451767.2_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A18D|C20orf26_ENST00000377306.1_Intron|C20orf26_ENST00000389656.3_Intron	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	18					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGTCAAcagcatttcccaa	0.418																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(52-54)gCt>gAt		crooked neck pre-mRNA splicing factor 1							162.0	150.0	154.0					20																	20036606		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20036606G>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.53C>A	20.37:g.20036606G>T	ENSP00000366557:p.Ala18Asp					C20orf26_ENST00000377306.1_Intron|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A18D|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000245957.5_Intron	p.A18D	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			1	84	-			18					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.53C>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635242	0.47049	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.34072	1.38;1.38	3.51	3.51	0.40186	.	0.528786	0.13979	N	0.349606	T	0.27063	0.0663	N	0.08118	0	0.34104	D	0.66219	P;P	0.46020	0.535;0.871	B;P	0.48654	0.115;0.585	T	0.41610	-0.9499	10	0.87932	D	0	-0.2169	10.8222	0.46612	0.0:0.0:1.0:0.0	.	18;18	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	D	18	ENSP00000366544:A18D;ENSP00000366557:A18D	ENSP00000366544:A18D	A	-	2	0	CRNKL1	19984606	0.000000	0.05858	0.009000	0.14445	0.028000	0.11728	0.250000	0.18235	2.239000	0.73571	0.591000	0.81541	GCT		0.418	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			46	67	1	0	1.48734e-19	1	1.9474e-19	46	67				
TPM1	7168	broad.mit.edu	37	15	63354834	63354834	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63354834T>G	ENST00000403994.3	+	8	842	c.762T>G	c.(760-762)gaT>gaG	p.D254E	TPM1_ENST00000559556.1_Missense_Mutation_p.D254E|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000358278.3_Missense_Mutation_p.D254E|TPM1_ENST00000288398.6_Missense_Mutation_p.D254E|TPM1_ENST00000357980.4_Missense_Mutation_p.D296E|TPM1_ENST00000334895.5_Missense_Mutation_p.D218E|TPM1_ENST00000559281.1_Missense_Mutation_p.D218E|TPM1_ENST00000560959.1_Missense_Mutation_p.D218E|TPM1_ENST00000559397.1_Missense_Mutation_p.D254E|TPM1_ENST00000317516.7_Missense_Mutation_p.D218E|TPM1_ENST00000267996.7_Missense_Mutation_p.D254E|TPM1_ENST00000404484.4_Missense_Mutation_p.D218E	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	254					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						AAAGCATTGATGACTTAGAAG	0.368																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(886-888)gaT>gaG		tropomyosin 1 (alpha)							136.0	141.0	139.0					15																	63354834		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63354834T>G	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.762T>G	15.37:g.63354834T>G	ENSP00000385107:p.Asp254Glu					TPM1_ENST00000560959.1_Missense_Mutation_p.D218E|TPM1_ENST00000317516.7_Missense_Mutation_p.D218E|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559397.1_Missense_Mutation_p.D254E|TPM1_ENST00000403994.3_Missense_Mutation_p.D254E|TPM1_ENST00000559556.1_Missense_Mutation_p.D254E|TPM1_ENST00000267996.7_Missense_Mutation_p.D254E|TPM1_ENST00000288398.6_Missense_Mutation_p.D254E|TPM1_ENST00000358278.3_Missense_Mutation_p.D254E|TPM1_ENST00000559281.1_Missense_Mutation_p.D218E|TPM1_ENST00000334895.5_Missense_Mutation_p.D218E|TPM1_ENST00000404484.4_Missense_Mutation_p.D218E	p.D296E			P09493	TPM1_HUMAN			9	967	+			254					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.888T>G	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396407	0.83011	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.87	2.29	0.28610	.	0.000000	0.52532	D	0.000063	D	0.98927	0.9636	M	0.92649	3.33	0.53688	D	0.999974	B;D;D;B;D;P;P;P;D;D;D;P;P;P	0.89917	0.167;0.994;0.991;0.05;0.983;0.91;0.908;0.92;0.999;1.0;0.993;0.923;0.679;0.908	B;D;D;B;D;D;D;D;D;D;D;P;P;D	0.87578	0.301;0.981;0.988;0.086;0.96;0.958;0.915;0.911;0.996;0.998;0.993;0.816;0.869;0.915	D	0.98693	1.0697	10	0.87932	D	0	-28.1007	9.0866	0.36586	0.0:0.2095:0.0:0.7905	.	218;218;254;220;218;218;254;296;254;254;254;254;254;254	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	E	254;254;254;254;296;276;218;220	ENSP00000288398:D254E;ENSP00000267996:D254E;ENSP00000351022:D254E;ENSP00000385107:D254E;ENSP00000350667:D296E;ENSP00000334624:D218E	ENSP00000267996:D254E	D	+	3	2	TPM1	61141887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.220000	0.42908	0.137000	0.18759	-0.290000	0.09829	GAT		0.368	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		31	54	0	0	0	1	0	31	54				
RBBP4	5928	broad.mit.edu	37	1	33133834	33133834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33133834G>T	ENST00000373493.5	+	4	478	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000373485.1_Missense_Mutation_p.G107C|RBBP4_ENST00000458695.2_Missense_Mutation_p.G72C|RBBP4_ENST00000414241.3_Missense_Mutation_p.G106C	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	107					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGAATTTGGAGGTTTTGGTTC	0.368																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(319-321)Ggt>Tgt		retinoblastoma binding protein 4							72.0	65.0	68.0					1																	33133834		2203	4300	6503	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33133834G>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.319G>T	1.37:g.33133834G>T	ENSP00000362592:p.Gly107Cys					RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000373485.1_Missense_Mutation_p.G107C|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.G72C|RBBP4_ENST00000414241.3_Missense_Mutation_p.G106C	p.G107C	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN			4	478	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	107					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.319G>T	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657073	0.88154	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695;ENST00000445722	T;T;T;T	0.70164	-0.42;-0.46;-0.36;-0.45	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	M	0.93106	3.38	0.80722	D	1	B;D	0.56968	0.158;0.978	B;P	0.57548	0.282;0.823	D	0.88153	0.2852	10	0.87932	D	0	.	18.1495	0.89669	0.0:0.0:1.0:0.0	.	106;107	Q09028-2;Q09028	.;RBBP4_HUMAN	C	106;107;107;72;72	ENSP00000398242:G106C;ENSP00000362592:G107C;ENSP00000362584:G107C;ENSP00000396057:G72C	ENSP00000362584:G107C	G	+	1	0	RBBP4	32906421	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.840000	0.99478	2.610000	0.88304	0.591000	0.81541	GGT		0.368	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		9	25	1	0	3.09899e-07	1	3.63227e-07	9	25				
ZBTB7C	201501	broad.mit.edu	37	18	45556204	45556204	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45556204G>A	ENST00000588982.1	-	4	1788	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZBTB7C_ENST00000332053.2_Silent_p.F429F|ZBTB7C_ENST00000586438.1_Silent_p.F429F|ZBTB7C_ENST00000535628.2_Silent_p.F429F|ZBTB7C_ENST00000590800.1_Silent_p.F429F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	429							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTGTGCACGAACTTGGCGT	0.592																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1285-1287)ttC>ttT		zinc finger and BTB domain containing 7C							146.0	109.0	121.0					18																	45556204		2203	4300	6503	SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45556204G>A	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1287C>T	18.37:g.45556204G>A						ZBTB7C_ENST00000586438.1_Silent_p.F429F|ZBTB7C_ENST00000535628.2_Silent_p.F429F|ZBTB7C_ENST00000590800.1_Silent_p.F429F|ZBTB7C_ENST00000332053.2_Silent_p.F429F	p.F429F			A1YPR0	ZBT7C_HUMAN			4	1788	-			429					O73453	Silent	SNP	ENST00000588982.1	37	c.1287C>T	CCDS32830.1																																																																																				0.592	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		17	23	0	0	0	1	0	17	23				
NR2F2	7026	broad.mit.edu	37	15	96877635	96877635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:96877635C>T	ENST00000394166.3	+	2	2162	c.773C>T	c.(772-774)gCg>gTg	p.A258V	NR2F2_ENST00000453270.2_Missense_Mutation_p.A105V|NR2F2_ENST00000421109.2_Missense_Mutation_p.A125V|NR2F2_ENST00000394171.2_Missense_Mutation_p.A105V|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	258	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TTGAATGCGGCGCAGTGCTCC	0.677																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(772-774)gCg>gTg		nuclear receptor subfamily 2, group F, member 2							82.0	72.0	75.0					15																	96877635		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877635C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.773C>T	15.37:g.96877635C>T	ENSP00000377721:p.Ala258Val					NR2F2_ENST00000421109.2_Missense_Mutation_p.A125V|NR2F2_ENST00000453270.2_Missense_Mutation_p.A105V|NR2F2_ENST00000394171.2_Missense_Mutation_p.A105V	p.A258V	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2162	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		258			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.773C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781366	0.96929	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.72118	2.19	0.80722	D	1	D;P	0.65815	0.995;0.655	D;B	0.67231	0.95;0.439	D	0.98660	1.0683	10	0.87932	D	0	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	258;125	P24468;Q3KQR7	COT2_HUMAN;.	V	125;258;105;105	ENSP00000401674:A125V;ENSP00000377721:A258V;ENSP00000377726:A105V;ENSP00000389853:A105V	ENSP00000377721:A258V	A	+	2	0	NR2F2	94678639	1.000000	0.71417	0.802000	0.32245	0.991000	0.79684	6.082000	0.71318	2.376000	0.81061	0.655000	0.94253	GCG		0.677	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			13	19	0	0	0	1	0	13	19				
ATRIP	84126	broad.mit.edu	37	3	48498762	48498762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48498762C>A	ENST00000320211.3	+	5	888	c.775C>A	c.(775-777)Ctt>Att	p.L259I	ATRIP_ENST00000357105.6_Missense_Mutation_p.L132I|ATRIP_ENST00000346691.4_Missense_Mutation_p.L259I|ATRIP_ENST00000412052.1_Missense_Mutation_p.L166I	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	259					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAACATGTCCCTTCCCCACCC	0.438								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(496-498)Ctt>Att	Other conserved DNA damage response genes	ATR interacting protein							82.0	80.0	80.0					3																	48498762		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48498762C>A	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.775C>A	3.37:g.48498762C>A	ENSP00000323099:p.Leu259Ile					ATRIP_ENST00000357105.6_Missense_Mutation_p.L132I|ATRIP_ENST00000320211.3_Missense_Mutation_p.L259I|ATRIP_ENST00000346691.4_Missense_Mutation_p.L259I	p.L166I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	958	+			259					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.496C>A	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503121	0.44558	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T;T	0.47528	1.34;1.42;1.41;0.84;1.42	5.9	2.05	0.26809	.	0.577884	0.17827	N	0.160646	T	0.38931	0.1059	M	0.66939	2.045	0.28448	N	0.916496	B;B	0.29988	0.264;0.264	B;B	0.27170	0.077;0.077	T	0.37934	-0.9684	10	0.48119	T	0.1	-0.9401	2.7617	0.05308	0.1492:0.5482:0.1442:0.1584	.	259;259	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	I	166;259;259;132;166	ENSP00000406664:L166I;ENSP00000323099:L259I;ENSP00000302338:L259I;ENSP00000349620:L132I;ENSP00000400930:L166I	ENSP00000323099:L259I	L	+	1	0	ATRIP	48473766	0.682000	0.27624	0.750000	0.31169	0.993000	0.82548	0.450000	0.21762	0.093000	0.17368	-0.157000	0.13467	CTT		0.438	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		4	28	1	0	0.00909568	1	0.00947522	4	28				
RABGAP1	23637	broad.mit.edu	37	9	125746809	125746809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125746809G>T	ENST00000373647.4	+	3	330	c.196G>T	c.(196-198)Gat>Tat	p.D66Y		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	66					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGAGCTAGCAGATGTACTGAT	0.458																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(196-198)Gat>Tat		RAB GTPase activating protein 1							89.0	76.0	81.0					9																	125746809		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125746809G>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.196G>T	9.37:g.125746809G>T	ENSP00000362751:p.Asp66Tyr						p.D66Y	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			3	330	+			66					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.196G>T	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701616	0.88924	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000402311	T;T	0.64618	-0.11;-0.11	5.51	5.51	0.81932	.	.	.	.	.	T	0.77458	0.4133	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.85130	0.687;0.997	T	0.79017	-0.1975	9	0.87932	D	0	-11.5997	18.4	0.90513	0.0:0.0:1.0:0.0	.	66;66	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	Y	66	ENSP00000362751:D66Y;ENSP00000384119:D66Y	ENSP00000324973:D66Y	D	+	1	0	RABGAP1	124786630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.658000	0.91110	2.577000	0.86979	0.655000	0.94253	GAT		0.458	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		4	29	1	0	0.00909568	1	0.00947522	4	29				
KLK1	3816	broad.mit.edu	37	19	51323632	51323632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51323632C>T	ENST00000301420.2	-	3	309	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KLK1_ENST00000448701.2_5'UTR|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	CTCTCACTGACATGAACAAAC	0.552																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(274-276)Gtc>Atc		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						213.0	196.0	202.0					19																	51323632		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51323632C>T	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.274G>A	19.37:g.51323632C>T	ENSP00000301420:p.Val92Ile					KLK1_ENST00000448701.2_5'UTR	p.V92I	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	3	309	-		all_neural(266;0.0199)	92			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.274G>A	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	c	15.66	2.899686	0.52227	.	.	ENSG00000167748	ENST00000301420	D	0.89810	-2.57	3.02	3.02	0.34903	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.80127	0.4566	N	0.17564	0.495	0.23739	N	0.996979	P	0.39883	0.693	B	0.38106	0.265	T	0.72798	-0.4184	9	0.66056	D	0.02	.	9.7452	0.40442	0.0:1.0:0.0:0.0	.	92	P06870	KLK1_HUMAN	I	92	ENSP00000301420:V92I	ENSP00000301420:V92I	V	-	1	0	KLK1	56015444	0.421000	0.25465	0.048000	0.18961	0.452000	0.32318	0.737000	0.26144	1.965000	0.57142	0.306000	0.20318	GTC		0.552	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		63	124	0	0	0	1	0	63	124				
SPRYD4	283377	broad.mit.edu	37	12	56863244	56863244	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56863244G>T	ENST00000338146.5	+	2	582	c.507G>T	c.(505-507)caG>caT	p.Q169H	MIP_ENST00000555551.1_5'Flank	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	169	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGTGAGCCAGGTCTCTGTGG	0.592																																						ENST00000338146.5																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						c.(505-507)caG>caT		SPRY domain containing 4							89.0	81.0	84.0					12																	56863244		2203	4300	6503	SO:0001583	missense	283377					nucleus		g.chr12:56863244G>T	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.507G>T	12.37:g.56863244G>T	ENSP00000338034:p.Gln169His						p.Q169H	NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN			2	582	+			169			B30.2/SPRY.		A8K7A5	Missense_Mutation	SNP	ENST00000338146.5	37	c.507G>T	CCDS8920.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982252	0.34942	.	.	ENSG00000176422	ENST00000338146;ENST00000543121	T	0.61274	0.12	5.28	3.43	0.39272	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.623498	0.17070	N	0.188217	T	0.45296	0.1335	L	0.28556	0.865	0.09310	N	1	B;B	0.30793	0.001;0.295	B;B	0.34452	0.003;0.183	T	0.44452	-0.9327	10	0.66056	D	0.02	-1.9569	8.3708	0.32415	0.2426:0.0:0.7574:0.0	.	91;169	B4DUC9;Q8WW59	.;SPRY4_HUMAN	H	169;91	ENSP00000338034:Q169H	ENSP00000338034:Q169H	Q	+	3	2	SPRYD4	55149511	0.000000	0.05858	0.203000	0.23512	0.992000	0.81027	0.471000	0.22100	1.367000	0.46095	0.561000	0.74099	CAG		0.592	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		20	49	1	0	6.33239e-15	1	8.10486e-15	20	49				
EPB41L4A	64097	broad.mit.edu	37	5	111595639	111595639	+	Missense_Mutation	SNP	G	G	A	rs550411328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111595639G>A	ENST00000261486.5	-	8	956	c.680C>T	c.(679-681)cCg>cTg	p.P227L	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	227	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AACACCAACCGGAGTTAATCC	0.363																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(679-681)cCg>cTg		erythrocyte membrane protein band 4.1 like 4A							145.0	141.0	142.0					5																	111595639		1841	4084	5925	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111595639G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.680C>T	5.37:g.111595639G>A	ENSP00000261486:p.Pro227Leu						p.P227L	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	8	956	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	227			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.680C>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671159	0.67814	.	.	ENSG00000129595	ENST00000261486	T	0.81247	-1.47	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.86097	2.795	0.58432	D	0.999998	P	0.42556	0.783	B	0.35240	0.198	D	0.86319	0.1691	10	0.87932	D	0	.	18.6924	0.91588	0.0:0.0:1.0:0.0	.	227	Q9HCS5	E41LA_HUMAN	L	227	ENSP00000261486:P227L	ENSP00000261486:P227L	P	-	2	0	EPB41L4A	111623538	1.000000	0.71417	0.969000	0.41365	0.916000	0.54674	7.669000	0.83911	2.780000	0.95670	0.655000	0.94253	CCG		0.363	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			34	56	0	0	0	1	0	34	56				
SYT15	83849	broad.mit.edu	37	10	46961979	46961979	+	Silent	SNP	C	C	T	rs370531772		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46961979C>T	ENST00000374321.4	-	8	1323	c.1257G>A	c.(1255-1257)acG>acA	p.T419T	SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000374323.4_Silent_p.T472T|SYT15_ENST00000449358.2_5'Flank	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	419						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTCAGGGCTCCGTGGTGCGGC	0.637																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1414-1416)acG>acA		synaptotagmin XV		C	,	13,4133		0,13,2060	52.0	62.0	59.0		1257,	-9.4	0.0	10		59	0,8408		0,0,4204	no	coding-synonymous,intron	SYT15	NM_031912.4,NM_181519.2	,	0,13,6264	TT,TC,CC		0.0,0.3136,0.1036	,	419/422,	46961979	13,12541	2073	4204	6277	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46961979C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1257G>A	10.37:g.46961979C>T						SYT15_ENST00000374321.4_Silent_p.T419T|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Intron	p.T472T			Q9BQS2	SYT15_HUMAN			7	2003	-			419					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.1416G>A	CCDS44376.1																																																																																				0.637	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	130	0	0	0	1	0	7	130				
SLC6A6	6533	broad.mit.edu	37	3	14508123	14508123	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14508123C>A	ENST00000454876.2	+	7	1161	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.L278M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	278					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAAGTTCTATCTGTATCCTGA	0.637																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(832-834)Ctg>Atg		solute carrier family 6 (neurotransmitter transporter), member 6							74.0	66.0	69.0					3																	14508123		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14508123C>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.832C>A	3.37:g.14508123C>A	ENSP00000398063:p.Leu278Met					SLC6A6_ENST00000360861.3_Missense_Mutation_p.L278M	p.L278M			P31641	SC6A6_HUMAN			7	1161	+			278					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.832C>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403526	0.83230	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.80738	-1.41;-1.41	4.55	3.65	0.41850	.	0.000000	0.64402	D	0.000002	D	0.89612	0.6765	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.91044	0.4873	10	0.62326	D	0.03	.	13.4121	0.60948	0.0:0.9187:0.0:0.0813	.	278	P31641	SC6A6_HUMAN	M	278	ENSP00000398063:L278M;ENSP00000354107:L278M	ENSP00000354107:L278M	L	+	1	2	SLC6A6	14483127	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.077000	0.71275	2.241000	0.73720	0.491000	0.48974	CTG		0.637	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		4	56	1	0	5.9392e-07	1	6.91975e-07	4	56				
MICALL1	85377	broad.mit.edu	37	22	38333770	38333770	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38333770A>C	ENST00000215957.6	+	15	2567	c.2441A>C	c.(2440-2442)aAg>aCg	p.K814T	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	814	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GAGGAAGACAAGATGTTGGAA	0.547																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2440-2442)aAg>aCg		MICAL-like 1							211.0	180.0	190.0					22																	38333770		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38333770A>C	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2441A>C	22.37:g.38333770A>C	ENSP00000215957:p.Lys814Thr					MICALL1_ENST00000402631.1_3'UTR	p.K814T	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			15	2567	+	Melanoma(58;0.045)		814					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.2441A>C	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997312	0.74818	.	.	ENSG00000100139	ENST00000215957;ENST00000402631;ENST00000424008	T;T;T	0.49720	0.77;0.77;0.77	5.46	5.46	0.80206	Domain of unknown function DUF3585 (1);	0.000000	0.64402	D	0.000014	T	0.71230	0.3315	M	0.83603	2.65	0.51233	D	0.999918	D	0.89917	1.0	D	0.77557	0.99	T	0.76567	-0.2912	10	0.87932	D	0	.	15.5278	0.75925	1.0:0.0:0.0:0.0	.	814	Q8N3F8	MILK1_HUMAN	T	814;241;128	ENSP00000215957:K814T;ENSP00000384608:K241T;ENSP00000416766:K128T	ENSP00000215957:K814T	K	+	2	0	MICALL1	36663716	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.083000	0.64456	2.073000	0.62155	0.482000	0.46254	AAG		0.547	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		51	106	0	0	0	1	0	51	106				
ALDOB	229	broad.mit.edu	37	9	104193166	104193166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104193166C>T	ENST00000374855.4	-	2	128	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	2					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AATCGGTGGGCCATGGTGACA	0.547																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(4-6)Gcc>Acc		aldolase B, fructose-bisphosphate							85.0	73.0	77.0					9																	104193166		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104193166C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.4G>A	9.37:g.104193166C>T	ENSP00000363988:p.Ala2Thr					ALDOB_ENST00000468981.2_5'UTR	p.A2T	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			2	128	-		Acute lymphoblastic leukemia(62;0.0559)	2					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.4G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	1.486	-0.555849	0.03967	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86432	-2.12	6.17	5.28	0.74379	.	0.137191	0.64402	N	0.000002	T	0.73426	0.3585	N	0.10809	0.05	0.25760	N	0.984951	B	0.02656	0.0	B	0.06405	0.002	T	0.64457	-0.6403	10	0.87932	D	0	-14.125	6.3508	0.21375	0.0:0.6852:0.153:0.1618	.	2	P05062	ALDOB_HUMAN	T	2	ENSP00000363988:A2T	ENSP00000363986:A2T	A	-	1	0	ALDOB	103232987	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	3.294000	0.51787	1.630000	0.50440	0.655000	0.94253	GCC		0.547	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			6	17	0	0	0	1	0	6	17				
DNAH2	146754	broad.mit.edu	37	17	7696336	7696336	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696336G>T	ENST00000572933.1	+	48	8842	c.7382G>T	c.(7381-7383)aGg>aTg	p.R2461M	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2461M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2461	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTGAGAGCAGGGTTGAGAAG	0.498																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7381-7383)aGg>aTg		dynein, axonemal, heavy chain 2							132.0	113.0	119.0					17																	7696336		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696336G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7382G>T	17.37:g.7696336G>T	ENSP00000458355:p.Arg2461Met					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2461M	p.R2461M			Q9P225	DYH2_HUMAN			48	8842	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2461			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7382G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050356	0.75960	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.16743	2.32	4.49	3.52	0.40303	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.81942	2.565	0.80722	D	1	P	0.52842	0.956	P	0.61533	0.89	T	0.40289	-0.9571	10	0.56958	D	0.05	.	13.5718	0.61851	0.0:0.1574:0.8426:0.0	.	2461	Q9P225	DYH2_HUMAN	M	2461	ENSP00000373825:R2461M	ENSP00000353818:R2461M	R	+	2	0	DNAH2	7637061	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.683000	0.68189	1.110000	0.41699	0.637000	0.83480	AGG		0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		22	40	1	0	7.88262e-20	1	1.03296e-19	22	40				
PIK3R1	5295	broad.mit.edu	37	5	67592152	67592152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:67592152C>A	ENST00000521381.1	+	15	2584	c.1968C>A	c.(1966-1968)tgC>tgA	p.C656*	PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.C293*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.C356*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.C664*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.C386*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	656	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AACAGGGCTGCTATGCCTGCT	0.438			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1966-1968)tgC>tgA		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						145.0	141.0	142.0					5																	67592152		2203	4300	6503	SO:0001587	stop_gained	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67592152C>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1968C>A	5.37:g.67592152C>A	ENSP00000428056:p.Cys656*	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.C356*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.C664*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.C386*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.C293*	p.C656*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	15	2584	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	656			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	c.1968C>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	38	6.873215	0.97901	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	5.15	3.37	0.38596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-15.4719	11.2026	0.48749	0.0:0.8528:0.0:0.1472	.	.	.	.	X	656;656;664;656;356;386;293	.	ENSP00000274335:C656X	C	+	3	2	PIK3R1	67627908	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.851000	0.39338	0.765000	0.33221	0.650000	0.86243	TGC		0.438	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		7	105	1	0	8.12818e-05	1	8.99451e-05	7	105				
GLUD1	2746	broad.mit.edu	37	10	88811578	88811578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88811578G>A	ENST00000277865.4	-	13	1703	c.1607C>T	c.(1606-1608)aCa>aTa	p.T536I	GLUD1_ENST00000537649.1_Missense_Mutation_p.T369I|GLUD1_ENST00000544149.1_Missense_Mutation_p.T403I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	536					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATAGGCAGCTGTTCTCAGGTC	0.438																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(1606-1608)aCa>aTa		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						233.0	202.0	213.0					10																	88811578		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88811578G>A	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1607C>T	10.37:g.88811578G>A	ENSP00000277865:p.Thr536Ile					GLUD1_ENST00000537649.1_Missense_Mutation_p.T369I|GLUD1_ENST00000544149.1_Missense_Mutation_p.T403I	p.T536I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			13	1703	-			536					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.1607C>T	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845061	0.71603	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96587	-4.06;-4.06;-4.06	4.94	4.94	0.65067	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.051617	0.85682	D	0.000000	D	0.97673	0.9237	M	0.80847	2.515	0.80722	D	1	D;P	0.53885	0.963;0.947	P;B	0.57324	0.818;0.4	D	0.98223	1.0479	10	0.62326	D	0.03	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	403;536	B4DGN5;P00367	.;DHE3_HUMAN	I	536;493;369;235;468;403	ENSP00000277865:T536I;ENSP00000439291:T369I;ENSP00000444732:T403I	ENSP00000277865:T536I	T	-	2	0	GLUD1	88801558	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.822000	0.99363	2.478000	0.83669	0.555000	0.69702	ACA		0.438	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		41	82	0	0	0	1	0	41	82				
PTPRD	5789	broad.mit.edu	37	9	8504272	8504272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8504272G>A	ENST00000381196.4	-	20	2354	c.1811C>T	c.(1810-1812)aCc>aTc	p.T604I	PTPRD_ENST00000397611.3_Missense_Mutation_p.T601I|PTPRD_ENST00000537002.1_Missense_Mutation_p.T601I|PTPRD_ENST00000360074.4_Missense_Mutation_p.T591I|PTPRD_ENST00000358503.5_Missense_Mutation_p.T591I|PTPRD_ENST00000355233.5_Missense_Mutation_p.T604I|PTPRD_ENST00000486161.1_Missense_Mutation_p.T604I|PTPRD_ENST00000397617.3_Missense_Mutation_p.T594I|PTPRD_ENST00000540109.1_Missense_Mutation_p.T604I|PTPRD_ENST00000356435.5_Missense_Mutation_p.T604I|PTPRD_ENST00000397606.3_Missense_Mutation_p.T594I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	604	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACTGCATGGTTCTAGCTGA	0.473										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1810-1812)aCc>aTc		protein tyrosine phosphatase, receptor type, D							189.0	170.0	177.0					9																	8504272		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8504272G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1811C>T	9.37:g.8504272G>A	ENSP00000370593:p.Thr604Ile	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.T604I|PTPRD_ENST00000355233.5_Missense_Mutation_p.T604I|PTPRD_ENST00000397606.3_Missense_Mutation_p.T594I|PTPRD_ENST00000397617.3_Missense_Mutation_p.T594I|PTPRD_ENST00000540109.1_Missense_Mutation_p.T604I|PTPRD_ENST00000397611.3_Missense_Mutation_p.T601I|PTPRD_ENST00000360074.4_Missense_Mutation_p.T591I|PTPRD_ENST00000537002.1_Missense_Mutation_p.T601I|PTPRD_ENST00000358503.5_Missense_Mutation_p.T591I|PTPRD_ENST00000486161.1_Missense_Mutation_p.T604I	p.T604I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	2354	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	604			Fibronectin type-III 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1811C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505450	0.85282	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;0.09;0.09;0.09;0.09;-0.12;0.09;0.09	5.53	5.53	0.82687	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87430	0.6175	H	0.97365	3.99	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.957;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.993;0.991;0.995;0.991;0.958;0.997;1.0;0.997;0.999	D	0.91629	0.5317	9	.	.	.	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	594;598;604;604;601;601;591;604;604	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	604;604;591;591;604;594;601;601;604;604;604;594	ENSP00000370593:T604I;ENSP00000348812:T604I;ENSP00000353187:T591I;ENSP00000351293:T591I;ENSP00000347373:T604I;ENSP00000380741:T594I;ENSP00000380735:T601I;ENSP00000440515:T601I;ENSP00000438164:T604I;ENSP00000417093:T604I;ENSP00000380731:T594I	.	T	-	2	0	PTPRD	8494272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.602000	0.87976	0.467000	0.42956	ACC		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	81	0	0	0	1	0	4	81				
DNMT3A	1788	broad.mit.edu	37	2	25497902	25497902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25497902G>A	ENST00000264709.3	-	6	884	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R183W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	183					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATGGGCCGCTGACGGAGG	0.672			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(547-549)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 3 alpha							24.0	23.0	23.0					2																	25497902		2203	4299	6502	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497902G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.547C>T	2.37:g.25497902G>A	ENSP00000264709:p.Arg183Trp					DNMT3A_ENST00000321117.5_Missense_Mutation_p.R183W	p.R183W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			6	884	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		183					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.547C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580196	0.86645	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.95885	-3.84;-3.84	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000003	D	0.94955	0.8368	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.95048	0.8184	10	0.87932	D	0	-9.9431	11.4309	0.50041	0.0:0.0:0.8199:0.1801	.	183	Q9Y6K1	DNM3A_HUMAN	W	183	ENSP00000324375:R183W;ENSP00000264709:R183W	ENSP00000264709:R183W	R	-	1	2	DNMT3A	25351406	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.564000	0.53791	2.448000	0.82819	0.561000	0.74099	CGG		0.672	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		9	7	0	0	0	1	0	9	7				
HERC1	8925	broad.mit.edu	37	15	63948395	63948395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63948395G>A	ENST00000443617.2	-	49	9849	c.9762C>T	c.(9760-9762)agC>agT	p.S3254S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3254					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTTAGCCTTGCTATGCCCAC	0.532																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(9760-9762)agC>agT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							44.0	46.0	45.0					15																	63948395		1998	4175	6173	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63948395G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9762C>T	15.37:g.63948395G>A							p.S3254S	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			49	9849	-			3254					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.9762C>T	CCDS45277.1																																																																																				0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	8	0	0	0	1	0	6	8				
RSF1	51773	broad.mit.edu	37	11	77451833	77451833	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77451833C>T	ENST00000308488.6	-	4	823	c.521G>A	c.(520-522)aGa>aAa	p.R174K	RSF1-IT1_ENST00000528233.1_RNA|RSF1_ENST00000360355.2_Missense_Mutation_p.R143K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	174					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TATGTACATTCTGACATTGTG	0.393																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(520-522)aGa>aAa		remodeling and spacing factor 1							198.0	163.0	175.0					11																	77451833		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77451833C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.521G>A	11.37:g.77451833C>T	ENSP00000311513:p.Arg174Lys					RSF1_ENST00000360355.2_Missense_Mutation_p.R143K	p.R174K			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		4	823	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		174					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.521G>A	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138144	0.94560	.	.	ENSG00000048649	ENST00000308488;ENST00000360355;ENST00000528095	D;D;T	0.89939	-2.59;-2.56;0.89	5.47	4.5	0.54988	.	0.000000	0.64402	D	0.000015	D	0.93223	0.7841	M	0.74881	2.28	0.47009	D	0.999285	D	0.76494	0.999	D	0.63793	0.918	D	0.93655	0.6976	10	0.62326	D	0.03	-18.6583	15.3686	0.74545	0.0:0.8601:0.1399:0.0	.	174	Q96T23	RSF1_HUMAN	K	174;143;173	ENSP00000311513:R174K;ENSP00000353511:R143K;ENSP00000436408:R173K	ENSP00000311513:R174K	R	-	2	0	RSF1	77129481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.565000	0.86533	0.655000	0.94253	AGA		0.393	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		5	88	0	0	0	1	0	5	88				
KDM3A	55818	broad.mit.edu	37	2	86701913	86701913	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86701913A>G	ENST00000409556.1	+	13	2104	c.1739A>G	c.(1738-1740)aAa>aGa	p.K580R	KDM3A_ENST00000542128.1_Missense_Mutation_p.K528R|KDM3A_ENST00000312912.5_Missense_Mutation_p.K580R|KDM3A_ENST00000409064.1_Missense_Mutation_p.K580R|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	580					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAATTCAACAAACATGGTGTG	0.408																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1738-1740)aAa>aGa		lysine (K)-specific demethylase 3A							152.0	133.0	140.0					2																	86701913		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86701913A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1739A>G	2.37:g.86701913A>G	ENSP00000386660:p.Lys580Arg					KDM3A_ENST00000409064.1_Missense_Mutation_p.K580R|KDM3A_ENST00000542128.1_Missense_Mutation_p.K528R|KDM3A_ENST00000312912.5_Missense_Mutation_p.K580R|KDM3A_ENST00000485171.1_3'UTR	p.K580R			Q9Y4C1	KDM3A_HUMAN			13	2104	+			580					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1739A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734218	0.69189	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	N	0.20574	0.59	0.43403	D	0.995533	B;B	0.31599	0.313;0.33	B;B	0.40375	0.327;0.263	T	0.53947	-0.8366	10	0.32370	T	0.25	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	528;580	F5H070;Q9Y4C1	.;KDM3A_HUMAN	R	580;580;580;580;528	ENSP00000386660:K580R;ENSP00000323659:K580R;ENSP00000386516:K580R;ENSP00000438324:K528R	ENSP00000323659:K580R	K	+	2	0	KDM3A	86555424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.371000	0.59523	2.371000	0.80710	0.533000	0.62120	AAA		0.408	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		38	60	0	0	0	1	0	38	60				
HSPA6	3310	broad.mit.edu	37	1	161495419	161495419	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161495419G>A	ENST00000309758.4	+	1	1384	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	324					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGCCCTGCGGGATGCCAAG	0.612																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(970-972)cGg>cAg		heat shock 70kDa protein 6 (HSP70B')																																				SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495419G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.971G>A	1.37:g.161495419G>A	ENSP00000310219:p.Arg324Gln						p.R324Q	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1384	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		324					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.971G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.560999	0.27827	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.00995	5.46	3.12	1.19	0.21007	.	1.126930	0.07113	N	0.842561	T	0.00384	0.0012	L	0.37561	1.115	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.43798	-0.9369	10	0.66056	D	0.02	.	6.6434	0.22921	0.2542:0.0:0.7458:0.0	.	324	P17066	HSP76_HUMAN	Q	324;300	ENSP00000310219:R324Q	ENSP00000310219:R324Q	R	+	2	0	HSPA6	159762043	0.022000	0.18835	0.028000	0.17463	0.933000	0.57130	1.838000	0.39211	0.064000	0.16427	0.543000	0.68304	CGG		0.612	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		9	15	0	0	0	1	0	9	15				
FRAS1	80144	broad.mit.edu	37	4	79443936	79443936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443936C>T	ENST00000264895.6	+	69	11222	c.10782C>T	c.(10780-10782)ctC>ctT	p.L3594L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3590					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACATCAACTCTGGAGAGCCA	0.433																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10780-10782)ctC>ctT		Fraser syndrome 1							40.0	40.0	40.0					4																	79443936		1848	4094	5942	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79443936C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10782C>T	4.37:g.79443936C>T							p.L3594L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			69	11222	+			3589					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.10782C>T	CCDS54771.1																																																																																				0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	14	0	0	0	1	0	4	14				
STAG1	10274	broad.mit.edu	37	3	136076622	136076622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136076622G>A	ENST00000383202.2	-	28	3261	c.3005C>T	c.(3004-3006)gCt>gTt	p.A1002V	STAG1_ENST00000434713.2_Missense_Mutation_p.A742V|STAG1_ENST00000536929.1_Missense_Mutation_p.A586V|STAG1_ENST00000236698.5_Missense_Mutation_p.A1002V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1002					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCAAGAAAAGCCAGATTAGG	0.323																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3004-3006)gCt>gTt		stromal antigen 1							104.0	102.0	102.0					3																	136076622		2202	4295	6497	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136076622G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3005C>T	3.37:g.136076622G>A	ENSP00000372689:p.Ala1002Val					STAG1_ENST00000236698.5_Missense_Mutation_p.A1002V|STAG1_ENST00000536929.1_Missense_Mutation_p.A586V|STAG1_ENST00000434713.2_Missense_Mutation_p.A742V	p.A1002V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			28	3261	-			1002					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.3005C>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228072	0.95173	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.967	D;P	0.87578	0.998;0.719	D	0.91151	0.4953	10	0.41790	T	0.15	.	18.3552	0.90355	0.0:0.0:1.0:0.0	.	1002;1002	Q6P275;Q8WVM7	.;STAG1_HUMAN	V	1002;1002;742;586	ENSP00000372689:A1002V;ENSP00000236698:A1002V;ENSP00000404396:A742V;ENSP00000445787:A586V	ENSP00000236698:A1002V	A	-	2	0	STAG1	137559312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.555000	0.86185	0.650000	0.86243	GCT		0.323	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		8	58	0	0	0	1	0	8	58				
SLC12A7	10723	broad.mit.edu	37	5	1065545	1065545	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1065545G>A	ENST00000264930.5	-	18	2333	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	764					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAGACCACCAGCTGGCAGAAG	0.632																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2290-2292)Ctg>Ttg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						63.0	65.0	64.0					5																	1065545		2203	4300	6503	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065545G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2290C>T	5.37:g.1065545G>A							p.L764L	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2333	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		764					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.2290C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	g	5.878	0.346139	0.11126	.	.	ENSG00000113504	ENST00000513223	.	.	.	4.49	3.38	0.38709	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42137	-0.9469	4	.	.	.	.	3.5054	0.07688	0.1093:0.1646:0.5575:0.1686	.	.	.	.	V	121	.	.	A	-	2	0	SLC12A7	1118545	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	1.371000	0.34250	2.055000	0.61198	0.467000	0.42956	GCT		0.632	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		25	27	0	0	0	1	0	25	27				
SEC24C	9632	broad.mit.edu	37	10	75528876	75528876	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75528876A>C	ENST00000339365.2	+	18	2552	c.2390A>C	c.(2389-2391)gAt>gCt	p.D797A	SEC24C_ENST00000411652.2_Missense_Mutation_p.D678A|SEC24C_ENST00000535742.1_Missense_Mutation_p.D45A|SEC24C_ENST00000540668.1_Missense_Mutation_p.D45A|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.D797A	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	797					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAGCATGACGATCGGCTCAAT	0.542																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2389-2391)gAt>gCt		SEC24 family member C							69.0	60.0	63.0					10																	75528876		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75528876A>C	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2390A>C	10.37:g.75528876A>C	ENSP00000343405:p.Asp797Ala					SEC24C_ENST00000411652.2_Missense_Mutation_p.D678A|SEC24C_ENST00000345254.4_Missense_Mutation_p.D797A|SEC24C_ENST00000535742.1_Missense_Mutation_p.D45A|SEC24C_ENST00000540668.1_Missense_Mutation_p.D45A|SEC24C_ENST00000496827.1_3'UTR	p.D797A	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			18	2552	+	Prostate(51;0.0112)		797					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2390A>C	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857415	0.91433	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.82	5.82	0.92795	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.981;0.996;1.0	T	0.67011	-0.5778	10	0.72032	D	0.01	-16.0921	16.1809	0.81898	1.0:0.0:0.0:0.0	.	678;797;797	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	A	45;797;45;797;678	ENSP00000446174:D45A;ENSP00000321845:D797A;ENSP00000445023:D45A;ENSP00000343405:D797A;ENSP00000402913:D678A	ENSP00000343405:D797A	D	+	2	0	SEC24C	75198882	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.339000	0.96797	2.229000	0.72834	0.383000	0.25322	GAT		0.542	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			5	22	0	0	0	1	0	5	22				
ADAP2	55803	broad.mit.edu	37	17	29283406	29283406	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29283406C>A	ENST00000330889.3	+	10	1365	c.1030C>A	c.(1030-1032)Ccc>Acc	p.P344T	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Missense_Mutation_p.P350T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	344	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTCACTTGCCCCAGTGAGAA	0.562																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1030-1032)Ccc>Acc		ArfGAP with dual PH domains 2							83.0	70.0	75.0					17																	29283406		2203	4300	6503	SO:0001583	missense	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29283406C>A	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.1030C>A	17.37:g.29283406C>A	ENSP00000329468:p.Pro344Thr					ADAP2_ENST00000580525.1_Missense_Mutation_p.P350T|AC091177.1_ENST00000442757.1_RNA	p.P344T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			10	1365	+			344			PH 2.		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	ENST00000330889.3	37	c.1030C>A	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071578	0.20147	.	.	ENSG00000184060	ENST00000330889	T	0.21932	1.98	4.94	2.87	0.33458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.215877	0.45606	D	0.000343	T	0.31199	0.0789	L	0.34521	1.04	0.32052	N	0.596839	D;P;P	0.63880	0.993;0.93;0.664	D;P;P	0.63488	0.915;0.649;0.484	T	0.36720	-0.9736	10	0.66056	D	0.02	.	12.7932	0.57545	0.0:0.5101:0.4899:0.0	.	350;343;344	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	T	344	ENSP00000329468:P344T	ENSP00000329468:P344T	P	+	1	0	ADAP2	26307532	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	3.756000	0.55205	0.624000	0.30286	0.462000	0.41574	CCC		0.562	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		10	33	1	0	3.86212e-05	1	4.30401e-05	10	33				
LRP2	4036	broad.mit.edu	37	2	170103217	170103217	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170103217A>T	ENST00000263816.3	-	21	3473	c.3188T>A	c.(3187-3189)cTt>cAt	p.L1063H	LRP2_ENST00000443831.1_Missense_Mutation_p.L926H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1063					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTACTTACTAAGTGTGCCACA	0.398																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3187-3189)cTt>cAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						226.0	225.0	225.0					2																	170103217		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170103217A>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3188T>A	2.37:g.170103217A>T	ENSP00000263816:p.Leu1063His					LRP2_ENST00000443831.1_Missense_Mutation_p.L926H	p.L1063H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	21	3473	-			1063					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3188T>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	9.034	0.988044	0.18966	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94650	-2.59;-3.48	5.9	-9.8	0.00490	.	1.420370	0.03725	N	0.252459	D	0.86184	0.5872	N	0.12471	0.22	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	T	0.74185	-0.3747	10	0.14252	T	0.57	.	15.2599	0.73613	0.292:0.0987:0.6093:0.0	.	926;1063	E9PC35;P98164	.;LRP2_HUMAN	H	1063;926	ENSP00000263816:L1063H;ENSP00000409813:L926H	ENSP00000263816:L1063H	L	-	2	0	LRP2	169811463	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.277000	0.18734	-1.929000	0.01057	-0.371000	0.07208	CTT		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		83	122	0	0	0	1	0	83	122				
SOS2	6655	broad.mit.edu	37	14	50626689	50626689	+	Missense_Mutation	SNP	A	A	G	rs368795570		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626689A>G	ENST00000216373.5	-	10	1586	c.1312T>C	c.(1312-1314)Tgt>Cgt	p.C438R	SOS2_ENST00000543680.1_Missense_Mutation_p.C405R|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	438					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCATTACAACACTGTCCAATA	0.353																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1312-1314)Tgt>Cgt		son of sevenless homolog 2 (Drosophila)			ARG/CYS	1,4405	2.1+/-5.4	0,1,2202	191.0	177.0	182.0		1312	5.7	1.0	14		182	0,8600		0,0,4300	no	missense	SOS2	NM_006939.2	180	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	438/1333	50626689	1,13005	2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626689A>G	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1312T>C	14.37:g.50626689A>G	ENSP00000216373:p.Cys438Arg					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.C405R	p.C438R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1586	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		438					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1312T>C	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	a	15.88	2.962300	0.53400	2.27E-4	0.0	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.87103	-2.21;-2.21	5.66	5.66	0.87406	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	M	0.73962	2.25	0.80722	D	1	P;D;D	0.55800	0.885;0.973;0.973	P;P;P	0.49226	0.603;0.576;0.474	D	0.89420	0.3709	10	0.40728	T	0.16	.	15.9227	0.79589	1.0:0.0:0.0:0.0	.	405;468;438	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	438;405	ENSP00000216373:C438R;ENSP00000445328:C405R	ENSP00000216373:C438R	C	-	1	0	SOS2	49696439	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.270000	0.95690	2.156000	0.67533	0.524000	0.50904	TGT		0.353	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			7	154	0	0	0	1	0	7	154				
SMURF1	57154	broad.mit.edu	37	7	98645338	98645338	+	Missense_Mutation	SNP	C	C	T	rs376042717		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98645338C>T	ENST00000361125.1	-	11	1518	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	SMURF1_ENST00000361368.2_Missense_Mutation_p.R374H|AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	400					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CACTTCGATGCGGCAATGACC	0.498																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(1198-1200)cGc>cAc		SMAD specific E3 ubiquitin protein ligase 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	105.0	102.0	103.0		1121,1199,1121	5.4	1.0	7		103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SMURF1	NM_001199847.1,NM_020429.2,NM_181349.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	374/729,400/758,374/732	98645338	1,13005	2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98645338C>T	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1199G>A	7.37:g.98645338C>T	ENSP00000354621:p.Arg400His					SMURF1_ENST00000361368.2_Missense_Mutation_p.R374H|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA	p.R400H	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		11	1518	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		400					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1199G>A	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783525	0.49891	0.0	1.16E-4	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.44482	0.92;0.92	5.44	5.44	0.79542	HECT (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	L	0.55103	1.725	0.80722	D	1	D;D;D	0.65815	0.993;0.995;0.978	P;P;P	0.54270	0.738;0.747;0.451	T	0.42949	-0.9421	10	0.05525	T	0.97	.	19.2699	0.94004	0.0:1.0:0.0:0.0	.	374;400;374	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	H	374;400	ENSP00000355326:R374H;ENSP00000354621:R400H	ENSP00000354621:R400H	R	-	2	0	SMURF1	98483274	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.814000	0.86154	2.527000	0.85204	0.563000	0.77884	CGC		0.498	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		64	62	0	0	0	1	0	64	62				
SEC31B	25956	broad.mit.edu	37	10	102265250	102265250	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102265250G>T	ENST00000370345.3	-	10	1144	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	SEC31B_ENST00000451524.1_Silent_p.I349I	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	349					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGGAAGAGGAGATCTGGGGGG	0.532																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1045-1047)atC>atA		SEC31 homolog B (S. cerevisiae)							77.0	85.0	82.0					10																	102265250		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265250G>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1047C>A	10.37:g.102265250G>T						SEC31B_ENST00000451524.1_Silent_p.I349I	p.I349I	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1144	-		Colorectal(252;0.117)	349					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.1047C>A	CCDS7495.1																																																																																				0.532	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		5	75	1	0	1.23904e-05	1	1.39987e-05	5	75				
FBXO42	54455	broad.mit.edu	37	1	16641705	16641705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16641705G>A	ENST00000375592.3	-	2	425	c.209C>T	c.(208-210)aCt>aTt	p.T70I	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	70	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AAGGGCCGCAGTTTTGTGTTC	0.413																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(208-210)aCt>aTt		F-box protein 42							111.0	103.0	106.0					1																	16641705		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16641705G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.209C>T	1.37:g.16641705G>A	ENSP00000364742:p.Thr70Ile					FBXO42_ENST00000478089.1_5'UTR	p.T70I	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	425	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	70			F-box.		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.209C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150912	0.78001	.	.	ENSG00000037637	ENST00000375592	T	0.42513	0.97	5.72	5.72	0.89469	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.26092	0.79	0.80722	D	1	P	0.40250	0.709	B	0.39027	0.288	T	0.19160	-1.0314	10	0.54805	T	0.06	-19.8485	18.8538	0.92242	0.0:0.0:1.0:0.0	.	70	Q6P3S6	FBX42_HUMAN	I	70	ENSP00000364742:T70I	ENSP00000364742:T70I	T	-	2	0	FBXO42	16514292	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.645000	0.91049	2.689000	0.91719	0.563000	0.77884	ACT		0.413	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			36	48	0	0	0	1	0	36	48				
PAFAH1B1	5048	broad.mit.edu	37	17	2579889	2579889	+	Missense_Mutation	SNP	C	C	A	rs138622703	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579889C>A	ENST00000397195.5	+	9	1442	c.991C>A	c.(991-993)Ctt>Att	p.L331I	PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGGCATGTGCCTTATGACCCT	0.363													C|||	2	0.000399361	0.0	0.0	5008	,	,		16151	0.0		0.0	False		,,,				2504	0.002					ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(991-993)Ctt>Att		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)		C	ILE/LEU	1,4405	2.1+/-5.4	0,1,2202	195.0	164.0	175.0		991	5.6	1.0	17	dbSNP_134	175	0,8600		0,0,4300	no	missense	PAFAH1B1	NM_000430.3	5	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	331/411	2579889	1,13005	2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2579889C>A	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.991C>A	17.37:g.2579889C>A	ENSP00000380378:p.Leu331Ile					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Intron	p.L331I	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			9	1442	+			331			Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.991C>A	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094343	0.36952	2.27E-4	0.0	ENSG00000007168	ENST00000397195;ENST00000397193	T	0.61859	0.07	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	L	0.27053	0.805	0.80722	D	1	B	0.25441	0.126	B	0.38880	0.284	T	0.48714	-0.9011	10	0.28530	T	0.3	.	18.5025	0.90887	0.0:1.0:0.0:0.0	.	331	P43034	LIS1_HUMAN	I	331;160	ENSP00000380378:L331I	ENSP00000380377:L160I	L	+	1	0	PAFAH1B1	2526639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.999000	0.70665	2.616000	0.88540	0.591000	0.81541	CTT		0.363	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		7	71	1	0	0.00198382	1	0.00210581	7	71				
SYTL4	94121	broad.mit.edu	37	X	99941132	99941132	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99941132G>T	ENST00000372989.1	-	15	1635	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	SYTL4_ENST00000263033.5_Missense_Mutation_p.S435Y|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000455616.1_Missense_Mutation_p.S435Y|SYTL4_ENST00000276141.6_Missense_Mutation_p.S435Y|SYTL4_ENST00000454200.2_Missense_Mutation_p.S437Y	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	435	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGCCAGGAGAGATTCTGGGAT	0.458																																						ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1303-1305)tCt>tAt		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						51.0	44.0	47.0					X																	99941132		2202	4300	6502	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99941132G>T		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1304C>A	X.37:g.99941132G>T	ENSP00000362080:p.Ser435Tyr					SYTL4_ENST00000276141.6_Missense_Mutation_p.S435Y|SYTL4_ENST00000263033.5_Missense_Mutation_p.S435Y|SYTL4_ENST00000454200.2_Missense_Mutation_p.S437Y|SYTL4_ENST00000372989.1_Missense_Mutation_p.S435Y|SYTL4_ENST00000372981.1_3'UTR	p.S435Y			Q96C24	SYTL4_HUMAN			14	1650	-			435			C2 1.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1304C>A	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650093	0.87958	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.88	5.88	0.94601	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.094688	0.85682	D	0.000000	D	0.84808	0.5554	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86160	0.1593	9	.	.	.	-13.7657	19.1445	0.93459	0.0:0.0:1.0:0.0	.	435	Q96C24	SYTL4_HUMAN	Y	435;435;437;435;435	ENSP00000362080:S435Y;ENSP00000390252:S435Y;ENSP00000403556:S437Y;ENSP00000276141:S435Y;ENSP00000263033:S435Y	.	S	-	2	0	SYTL4	99827788	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.036000	0.93758	2.471000	0.83476	0.600000	0.82982	TCT		0.458	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		6	10	1	0	0.0293803	1	0.0301098	6	10				
GYS1	2997	broad.mit.edu	37	19	49496323	49496323	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49496323T>C	ENST00000323798.3	-	1	243	c.47A>G	c.(46-48)gAg>gGg	p.E16G	GYS1_ENST00000540532.1_5'UTR|RUVBL2_ENST00000413176.2_5'Flank|GYS1_ENST00000541188.1_5'UTR|RUVBL2_ENST00000601968.1_5'Flank|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.E16G|GYS1_ENST00000544287.1_Intron|RUVBL2_ENST00000595090.1_5'Flank	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	16					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCCCAGTCCTCCAGTCCTGG	0.627											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(46-48)gAg>gGg		glycogen synthase 1 (muscle)							130.0	114.0	120.0					19																	49496323		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49496323T>C		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.47A>G	19.37:g.49496323T>C	ENSP00000317904:p.Glu16Gly		OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	GYS1_ENST00000540532.1_5'UTR|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.E16G|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000541188.1_5'UTR	p.E16G	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	1	243	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	16					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.47A>G	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044343	0.55110	.	.	ENSG00000104812	ENST00000323798;ENST00000263276	T;T	0.69685	-0.13;-0.42	5.13	5.13	0.70059	.	0.099792	0.64402	D	0.000002	T	0.48466	0.1501	N	0.14661	0.345	0.80722	D	1	B;B	0.31968	0.079;0.349	B;B	0.29862	0.023;0.108	T	0.49744	-0.8907	10	0.33141	T	0.24	-15.2245	13.1914	0.59713	0.0:0.0:0.0:1.0	.	16;16	Q9BTT9;P13807	.;GYS1_HUMAN	G	16	ENSP00000317904:E16G;ENSP00000263276:E16G	ENSP00000263276:E16G	E	-	2	0	GYS1	54188135	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.279000	0.51670	2.069000	0.61940	0.459000	0.35465	GAG		0.627	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		13	96	0	0	0	1	0	13	96				
FN1	2335	broad.mit.edu	37	2	216293036	216293036	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216293036C>A	ENST00000359671.1	-	6	976	c.711G>T	c.(709-711)agG>agT	p.R237S	FN1_ENST00000421182.1_Missense_Mutation_p.R237S|FN1_ENST00000426059.1_Missense_Mutation_p.R237S|FN1_ENST00000346544.3_Missense_Mutation_p.R237S|FN1_ENST00000357009.2_Missense_Mutation_p.R237S|FN1_ENST00000443816.1_Missense_Mutation_p.R237S|FN1_ENST00000345488.5_Missense_Mutation_p.R237S|FN1_ENST00000357867.4_Missense_Mutation_p.R237S|FN1_ENST00000336916.4_Missense_Mutation_p.R237S|FN1_ENST00000356005.4_Missense_Mutation_p.R237S|FN1_ENST00000446046.1_Missense_Mutation_p.R237S|FN1_ENST00000432072.2_Missense_Mutation_p.R237S|FN1_ENST00000354785.4_Missense_Mutation_p.R237S|FN1_ENST00000323926.6_Missense_Mutation_p.R237S			P02751	FINC_HUMAN	fibronectin 1	237	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TATAGGATGTCCTTGTGTCCT	0.468																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(709-711)agG>agT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141.0	112.0	122.0					2																	216293036		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216293036C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.711G>T	2.37:g.216293036C>A	ENSP00000352696:p.Arg237Ser					FN1_ENST00000359671.1_Missense_Mutation_p.R237S|FN1_ENST00000443816.1_Missense_Mutation_p.R237S|FN1_ENST00000432072.2_Missense_Mutation_p.R237S|FN1_ENST00000421182.1_Missense_Mutation_p.R237S|FN1_ENST00000356005.4_Missense_Mutation_p.R237S|FN1_ENST00000336916.4_Missense_Mutation_p.R237S|FN1_ENST00000446046.1_Missense_Mutation_p.R237S|FN1_ENST00000426059.1_Missense_Mutation_p.R237S|FN1_ENST00000323926.6_Missense_Mutation_p.R237S|FN1_ENST00000345488.5_Missense_Mutation_p.R237S|FN1_ENST00000357009.2_Missense_Mutation_p.R237S|FN1_ENST00000346544.3_Missense_Mutation_p.R237S|FN1_ENST00000357867.4_Missense_Mutation_p.R237S	p.R237S			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1080	-		Renal(323;0.127)	237			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.711G>T		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429448	0.43122	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.87	3.0	0.34707	.	0.289894	0.34156	N	0.004217	T	0.53997	0.1831	L	0.56769	1.78	0.09310	N	0.999992	B;D;B;P;B;B;B;P;B;B;P	0.65815	0.083;0.995;0.433;0.735;0.005;0.002;0.234;0.67;0.005;0.005;0.712	B;D;B;P;B;B;B;B;B;B;B	0.78314	0.217;0.991;0.138;0.461;0.003;0.005;0.197;0.403;0.003;0.003;0.287	T	0.36696	-0.9737	10	0.51188	T	0.08	.	6.7565	0.23516	0.0:0.6675:0.1302:0.2023	.	237;237;237;237;237;237;237;237;237;237;237	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	237	ENSP00000394423:R237S;ENSP00000323534:R237S;ENSP00000338200:R237S;ENSP00000350534:R237S;ENSP00000346839:R237S;ENSP00000352696:R237S;ENSP00000265312:R237S;ENSP00000273049:R237S;ENSP00000349509:R237S;ENSP00000410422:R237S;ENSP00000415018:R237S;ENSP00000399538:R237S;ENSP00000348285:R237S;ENSP00000398907:R237S	ENSP00000265313:R237S	R	-	3	2	FN1	216001281	0.915000	0.31059	0.007000	0.13788	0.627000	0.37826	1.143000	0.31553	0.889000	0.36185	0.655000	0.94253	AGG		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		19	37	1	0	5.26018e-13	1	6.65277e-13	19	37				
SNHG14	104472715	broad.mit.edu	37	15	25325314	25325314	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25325314C>T	ENST00000546682.1	+	0	0				SNORD116-15_ENST00000384445.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCCATATATACATTCCTTGGA	0.433																																						ENST00000549804.2																			0																				263.0	236.0	244.0					15																	25325314		876	1991	2867			0							g.chr15:25325314C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25325314C>T						SNORD116-14_ENST00000383894.1_RNA								0	1377	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.433	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			9	155	0	0	0	1	0	9	155				
ARHGEF2	9181	broad.mit.edu	37	1	155932767	155932767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932767C>T	ENST00000361247.4	-	8	1031	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R312Q|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R356Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R310Q|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	311	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GACAAAGTTCCGGGTGCTGCC	0.597																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(847-849)cGg>cAg		Rho/Rac guanine nucleotide exchange factor (GEF) 2							64.0	62.0	63.0					1																	155932767		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155932767C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.932G>A	1.37:g.155932767C>T	ENSP00000354837:p.Arg311Gln					ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R310Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R312Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R311Q	p.R283Q			Q92974	ARHG2_HUMAN			12	1318	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		311			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.848G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140864	0.56936	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.93	4.93	0.64822	Dbl homology (DH) domain (5);	0.000000	0.44688	D	0.000431	T	0.37019	0.0988	N	0.21448	0.665	0.31032	N	0.717359	P;B;B;B	0.34662	0.462;0.027;0.178;0.068	B;B;B;B	0.37650	0.255;0.117;0.066;0.071	T	0.29610	-1.0006	10	0.37606	T	0.19	-29.9045	9.4026	0.38442	0.0:0.9047:0.0:0.0953	.	356;355;311;310	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	Q	283;311;312;283;356;284;310	ENSP00000315325:R283Q;ENSP00000354837:R311Q;ENSP00000357298:R312Q;ENSP00000357299:R283Q;ENSP00000314787:R310Q	ENSP00000314787:R310Q	R	-	2	0	ARHGEF2	154199391	0.998000	0.40836	0.995000	0.50966	0.612000	0.37316	1.628000	0.37060	2.713000	0.92767	0.609000	0.83330	CGG		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		18	40	0	0	0	1	0	18	40				
CEACAM21	90273	broad.mit.edu	37	19	42083694	42083694	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42083694A>G	ENST00000401445.2	+	2	233	c.207A>G	c.(205-207)aaA>aaG	p.K69K	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Silent_p.K69K|CEACAM21_ENST00000407170.2_5'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	69						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCTGGTACAAAGGGAAAACGG	0.483																																						ENST00000187608.9																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(205-207)aaA>aaG		carcinoembryonic antigen-related cell adhesion molecule 21							74.0	78.0	77.0					19																	42083694		2057	4242	6299	SO:0001819	synonymous_variant	90273					integral to membrane		g.chr19:42083694A>G	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.207A>G	19.37:g.42083694A>G						CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Silent_p.K69K	p.K69K	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN			2	247	+			69					B7WNQ6|O75296|Q6UY47|Q96ER7	Silent	SNP	ENST00000401445.2	37	c.207A>G	CCDS46086.1																																																																																				0.483	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		4	35	0	0	0	1	0	4	35				
DDX60	55601	broad.mit.edu	37	4	169195159	169195159	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169195159C>A	ENST00000393743.3	-	17	2671	c.2380G>T	c.(2380-2382)Gcc>Tcc	p.A794S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	794	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAGTAGGAGGCATAGGTTTTG	0.498																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2380-2382)Gcc>Tcc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							164.0	153.0	156.0					4																	169195159		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169195159C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2380G>T	4.37:g.169195159C>A	ENSP00000377344:p.Ala794Ser						p.A794S	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	17	2671	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	794			Helicase ATP-binding.		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2380G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939034	0.73557	.	.	ENSG00000137628	ENST00000393743	T	0.21191	2.02	5.06	4.22	0.49857	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.210170	0.33110	N	0.005280	T	0.43389	0.1245	M	0.71581	2.175	0.33882	D	0.636241	D	0.71674	0.998	D	0.67900	0.954	T	0.61613	-0.7027	10	0.66056	D	0.02	.	13.4645	0.61245	0.0:0.9228:0.0:0.0772	.	794	Q8IY21	DDX60_HUMAN	S	794	ENSP00000377344:A794S	ENSP00000377344:A794S	A	-	1	0	DDX60	169431734	0.999000	0.42202	0.842000	0.33263	0.756000	0.42949	1.716000	0.37981	1.271000	0.44313	0.557000	0.71058	GCC		0.498	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		33	50	1	0	7.16026e-08	1	8.49752e-08	33	50				
CSPG5	10675	broad.mit.edu	37	3	47618449	47618449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47618449C>T	ENST00000383738.2	-	2	3165	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.G356D|CSPG5_ENST00000456150.1_Missense_Mutation_p.G218D	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	356					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACTCAGTGCCATTTTCACT	0.642																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1066-1068)gGc>gAc		chondroitin sulfate proteoglycan 5 (neuroglycan C)							69.0	72.0	71.0					3																	47618449		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618449C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1067G>A	3.37:g.47618449C>T	ENSP00000373244:p.Gly356Asp					CSPG5_ENST00000456150.1_Missense_Mutation_p.G218D|CSPG5_ENST00000264723.4_Missense_Mutation_p.G356D	p.G356D	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3165	-			356					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.1067G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717680	0.89205	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.23950	1.9;1.89;1.88	4.63	3.75	0.43078	.	0.265821	0.35291	N	0.003316	T	0.20861	0.0502	N	0.19112	0.55	0.43326	D	0.995357	P;D	0.56746	0.947;0.977	B;P	0.48030	0.344;0.564	T	0.01920	-1.1247	10	0.27082	T	0.32	-9.4385	13.0564	0.58982	0.1618:0.8382:0.0:0.0	.	356;356	O95196;O95196-2	CSPG5_HUMAN;.	D	218;356;356	ENSP00000392096:G218D;ENSP00000373244:G356D;ENSP00000264723:G356D	ENSP00000264723:G356D	G	-	2	0	CSPG5	47593453	0.999000	0.42202	0.986000	0.45419	0.979000	0.70002	1.119000	0.31258	1.144000	0.42321	0.655000	0.94253	GGC		0.642	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		9	95	0	0	0	1	0	9	95				
TMF1	7110	broad.mit.edu	37	3	69075205	69075205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69075205C>T	ENST00000398559.2	-	14	3017	c.2801G>A	c.(2800-2802)cGc>cAc	p.R934H	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.R937H|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	934					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGAACTTGAGCGTGACATGGT	0.358																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2809-2811)cGc>cAc		TATA element modulatory factor 1							107.0	105.0	105.0					3																	69075205		1906	4134	6040	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69075205C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2801G>A	3.37:g.69075205C>T	ENSP00000381567:p.Arg934His					CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R934H|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	p.R937H	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	14	3056	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	934					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2810G>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584733	0.86748	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.53206	0.63;0.63	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.49409	-0.8943	10	0.16896	T	0.51	-4.9948	18.3318	0.90271	0.0:1.0:0.0:0.0	.	937;934	P82094-2;P82094	.;TMF1_HUMAN	H	934;937;850	ENSP00000381567:R934H;ENSP00000438706:R937H	ENSP00000348582:R850H	R	-	2	0	TMF1	69157895	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	5.738000	0.68613	2.495000	0.84180	0.585000	0.79938	CGC		0.358	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		13	27	0	0	0	1	0	13	27				
TMEM255A	55026	broad.mit.edu	37	X	119419070	119419070	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119419070C>A	ENST00000309720.5	-	7	619	c.496G>T	c.(496-498)Gtt>Ttt	p.V166F	TMEM255A_ENST00000371369.4_Splice_Site_p.V142F|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Splice_Site_p.V2F	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	166						integral component of membrane (GO:0016021)											GGGCAGTTAACCTGACGGTAT	0.517																																						ENST00000371369.4																			0											c.e6-1		transmembrane protein 255A							183.0	143.0	156.0					X																	119419070		2203	4300	6503	SO:0001630	splice_region_variant	55026							g.chrX:119419070C>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.496-1G>T	X.37:g.119419070C>A						TMEM255A_ENST00000309720.5_Splice_Site_p.V166_splice|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Splice_Site_p.V2_splice	p.V142_splice	NM_001104544.1	NP_001098014.1					6	650	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Splice_Site	SNP	ENST00000309720.5	37	c.423_splice	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	c	19.59	3.856701	0.71834	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.58652	0.32;0.32;0.32	4.56	4.56	0.56223	.	0.066800	0.64402	D	0.000016	T	0.75657	0.3879	M	0.81112	2.525	0.80722	D	1	D;D	0.71674	0.99;0.998	P;D	0.66196	0.775;0.942	T	0.80708	-0.1262	10	0.87932	D	0	-5.9621	15.5617	0.76253	0.0:1.0:0.0:0.0	.	142;166	B1APR4;Q5JRV8	.;FA70A_HUMAN	F	166;142;2	ENSP00000310110:V166F;ENSP00000360420:V142F;ENSP00000360403:V2F	ENSP00000310110:V166F	V	-	1	0	FAM70A	119303098	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	4.477000	0.60223	1.856000	0.53863	0.431000	0.28591	GTT		0.517	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	Missense_Mutation	13	129	1	0	0.0135373	1	0.0140872	13	129				
USP36	57602	broad.mit.edu	37	17	76825052	76825052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76825052C>A	ENST00000542802.3	-	5	956	c.513G>T	c.(511-513)caG>caT	p.Q171H	USP36_ENST00000312010.6_Missense_Mutation_p.Q171H|USP36_ENST00000590546.2_Missense_Mutation_p.Q171H|USP36_ENST00000589424.1_Missense_Mutation_p.Q171H			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	171	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGTTCTGCATGACAC	0.512																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(511-513)caG>caT		ubiquitin specific peptidase 36							73.0	68.0	70.0					17																	76825052		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76825052C>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.513G>T	17.37:g.76825052C>A	ENSP00000441214:p.Gln171His					USP36_ENST00000590546.2_Missense_Mutation_p.Q171H|USP36_ENST00000542802.2_Missense_Mutation_p.Q171H|USP36_ENST00000589424.1_Missense_Mutation_p.Q171H	p.Q171H	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		5	837	-			171					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.513G>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202020	0.79127	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.32753	1.44;1.44	5.5	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.52646	-0.8548	10	0.72032	D	0.01	-29.9512	9.0227	0.36209	0.0:0.7673:0.0:0.2327	.	171;171	Q8IXW9;Q9P275-2	.;.	H	171	ENSP00000310590:Q171H;ENSP00000441214:Q171H	ENSP00000310590:Q171H	Q	-	3	2	USP36	74336647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.677000	0.37576	0.680000	0.31366	0.650000	0.86243	CAG		0.512	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		27	23	1	0	3.73148e-12	1	4.68205e-12	27	23				
BHMT2	23743	broad.mit.edu	37	5	78379191	78379191	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78379191C>A	ENST00000255192.3	+	6	841	c.775C>A	c.(775-777)Ccc>Acc	p.P259T	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.P195T	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	259	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCAGAATATCCCTTTGGTAA	0.488																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(775-777)Ccc>Acc		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						58.0	60.0	59.0					5																	78379191		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78379191C>A		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.775C>A	5.37:g.78379191C>A	ENSP00000255192:p.Pro259Thr					DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.P195T	p.P259T	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	6	841	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	259			Hcy-binding.		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.775C>A	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260377	0.80246	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.14391	2.51;2.51	5.53	4.66	0.58398	Homocysteine S-methyltransferase (4);	0.049597	0.85682	D	0.000000	T	0.42337	0.1198	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.987;0.999	D;D	0.74674	0.913;0.984	T	0.52902	-0.8513	10	0.16896	T	0.51	-15.2739	14.3798	0.66905	0.0:0.9291:0.0:0.0709	.	195;259	B7Z516;Q9H2M3	.;BHMT2_HUMAN	T	259;195	ENSP00000255192:P259T;ENSP00000430278:P195T	ENSP00000255192:P259T	P	+	1	0	BHMT2	78414947	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	7.390000	0.79816	1.347000	0.45714	-0.140000	0.14226	CCC		0.488	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		6	33	1	0	1	1	1	6	33				
DMXL1	1657	broad.mit.edu	37	5	118556656	118556656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556656A>G	ENST00000311085.8	+	36	8174	c.8094A>G	c.(8092-8094)atA>atG	p.I2698M	DMXL1_ENST00000539542.1_Missense_Mutation_p.I2719M|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2698										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTGGTTATACATGCTCGTG	0.353																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(8092-8094)atA>atG		Dmx-like 1							96.0	92.0	94.0					5																	118556656		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118556656A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8094A>G	5.37:g.118556656A>G	ENSP00000309690:p.Ile2698Met					DMXL1_ENST00000539542.1_Missense_Mutation_p.I2719M|DMXL1_ENST00000505312.1_3'UTR	p.I2698M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	36	8174	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2698						Missense_Mutation	SNP	ENST00000311085.8	37	c.8094A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096864	0.56075	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10960	2.83;2.82	5.15	-1.13	0.09775	.	0.119559	0.64402	D	0.000010	T	0.19446	0.0467	L	0.55481	1.735	0.40148	D	0.976918	P;B	0.35527	0.507;0.13	P;B	0.46917	0.531;0.176	T	0.20240	-1.0281	10	0.54805	T	0.06	-4.2642	18.357	0.90361	0.3069:0.6931:0.0:0.0	.	2719;2698	F5H269;Q9Y485	.;DMXL1_HUMAN	M	2698;2719	ENSP00000309690:I2698M;ENSP00000439479:I2719M	ENSP00000309690:I2698M	I	+	3	3	DMXL1	118584555	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.162000	0.31786	-0.075000	0.12798	0.460000	0.39030	ATA		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		23	47	0	0	0	1	0	23	47				
TSPAN10	83882	broad.mit.edu	37	17	79612540	79612540	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79612540C>T	ENST00000572675.1	+	0	559				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCACACCCTGCGTGTGGCCAT	0.687																																						ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							17.0	22.0	20.0					17																	79612540		2113	4221	6334			83882					integral to membrane		g.chr17:79612540C>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612540C>T						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	649	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37			.	.	.	.	.	.	.	.	.	.	C	14.17	2.456586	0.43634	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	D	0.87809	-2.3	4.15	3.17	0.36434	Tetraspanin, EC2 domain (1);	0.394044	0.22892	N	0.054366	D	0.90407	0.6997	M	0.76574	2.34	0.09310	N	1	D;D	0.89917	1.0;0.995	P;P	0.60541	0.876;0.744	T	0.82321	-0.0515	10	0.72032	D	0.01	-5.1231	7.797	0.29154	0.1608:0.752:0.0:0.0873	.	187;187	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	C	187	ENSP00000331620:R187C	ENSP00000331620:R187C	R	+	1	0	TSPAN10	77222945	0.778000	0.28640	0.005000	0.12908	0.667000	0.39255	1.407000	0.34657	0.961000	0.38030	0.462000	0.41574	CGT		0.687	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		3	2	0	0	0	1	0	3	2				
RABEPK	10244	broad.mit.edu	37	9	127990304	127990304	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127990304C>T	ENST00000373538.3	+	6	952	c.642C>T	c.(640-642)gaC>gaT	p.D214D	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.D214D|RABEPK_ENST00000259460.8_Silent_p.D163D	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	214					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGCGGGGGACAGATTCTATG	0.453																																						ENST00000373538.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(640-642)gaC>gaT		Rab9 effector protein with kelch motifs							54.0	54.0	54.0					9																	127990304		2203	4300	6503	SO:0001819	synonymous_variant	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127990304C>T	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.642C>T	9.37:g.127990304C>T						RABEPK_ENST00000394125.4_Silent_p.D214D|RABEPK_ENST00000259460.8_Silent_p.D163D|RABEPK_ENST00000394124.4_3'UTR	p.D214D	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN			6	952	+			214					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	ENST00000373538.3	37	c.642C>T	CCDS6862.1																																																																																				0.453	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		3	20	0	0	0	1	0	3	20				
PLD2	5338	broad.mit.edu	37	17	4725991	4725991	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4725991C>T	ENST00000263088.6	+	25	2765	c.2634C>T	c.(2632-2634)taC>taT	p.Y878Y	PLD2_ENST00000572940.1_Silent_p.Y867Y	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	878					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCCGGGAGTACGTGGCCGTGG	0.657																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2632-2634)taC>taT		phospholipase D2	Choline(DB00122)						68.0	63.0	64.0					17																	4725991		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4725991C>T	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2634C>T	17.37:g.4725991C>T						PLD2_ENST00000572940.1_Silent_p.Y867Y	p.Y878Y	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			25	2765	+			878					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.2634C>T	CCDS11057.1																																																																																				0.657	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		38	41	0	0	0	1	0	38	41				
PAQR7	164091	broad.mit.edu	37	1	26189404	26189404	+	Silent	SNP	C	C	T	rs146789461		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189404C>T	ENST00000374296.3	-	2	1593	c.927G>A	c.(925-927)acG>acA	p.T309T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	309					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCAGTGCGTGTGCAGAG	0.577																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(925-927)acG>acA		progestin and adipoQ receptor family member VII							73.0	73.0	73.0					1																	26189404		2203	4300	6503	SO:0001819	synonymous_variant	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189404C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.927G>A	1.37:g.26189404C>T						RP1-125I3.2_ENST00000455431.1_RNA	p.T309T	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1593	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	309					A2A2D3|Q5XKF9|Q86VE4	Silent	SNP	ENST00000374296.3	37	c.927G>A	CCDS267.1																																																																																				0.577	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		15	33	0	0	0	1	0	15	33				
ZNF549	256051	broad.mit.edu	37	19	58049682	58049682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049682G>A	ENST00000376233.3	+	4	1491	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R424K|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCACCAGAGAATTCATACT	0.433																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1309-1311)aGa>aAa		zinc finger protein 549							60.0	60.0	60.0					19																	58049682		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049682G>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1310G>A	19.37:g.58049682G>A	ENSP00000365407:p.Arg437Lys					ZNF549_ENST00000240719.3_Missense_Mutation_p.R424K|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron	p.R437K	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1491	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	437					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1310G>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981875	0.74474	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.18338	2.22;2.22	2.92	0.568	0.17333	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12774	0.0310	L	0.28192	0.835	0.20074	N	0.999932	P;P	0.49783	0.928;0.817	P;P	0.49226	0.55;0.603	T	0.22034	-1.0228	9	0.29301	T	0.29	.	2.49	0.04607	0.2238:0.0:0.3328:0.4433	.	437;424	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	K	424;437	ENSP00000240719:R424K;ENSP00000365407:R437K	ENSP00000240719:R424K	R	+	2	0	ZNF549	62741494	0.000000	0.05858	0.010000	0.14722	0.970000	0.65996	0.567000	0.23608	1.461000	0.47929	0.585000	0.79938	AGA		0.433	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		23	29	0	0	0	1	0	23	29				
TTN	7273	broad.mit.edu	37	2	179658255	179658255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179658255G>A	ENST00000591111.1	-	9	1636	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	TTN_ENST00000460472.2_Missense_Mutation_p.A471V|TTN_ENST00000359218.5_Missense_Mutation_p.A471V|TTN_ENST00000342992.6_Missense_Mutation_p.A471V|TTN_ENST00000589042.1_Missense_Mutation_p.A471V|TTN_ENST00000342175.6_Missense_Mutation_p.A471V|TTN_ENST00000360870.5_Missense_Mutation_p.A471V			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTCTCCGCTTCCTTTCT	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1411-1413)gCg>gTg		titin							185.0	178.0	180.0					2																	179658255		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179658255G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1412C>T	2.37:g.179658255G>A	ENSP00000465570:p.Ala471Val					TTN_ENST00000460472.2_Missense_Mutation_p.A471V|TTN_ENST00000360870.5_Missense_Mutation_p.A471V|TTN_ENST00000342992.6_Missense_Mutation_p.A471V|TTN_ENST00000359218.5_Missense_Mutation_p.A471V|TTN_ENST00000342175.6_Missense_Mutation_p.A471V|TTN_ENST00000591111.1_Missense_Mutation_p.A471V	p.A471V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		9	1636	-			471					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1412C>T		.	.	.	.	.	.	.	.	.	.	G	14.39	2.521249	0.44866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.61	5.61	0.85477	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46870	0.1415	M	0.65975	2.015	0.26179	N	0.979752	B;B;B;B;P	0.49961	0.056;0.056;0.056;0.056;0.93	B;B;B;B;B	0.40565	0.02;0.02;0.02;0.034;0.333	T	0.55179	-0.8181	9	0.87932	D	0	.	10.8633	0.46839	0.0858:0.0:0.9142:0.0	.	471;471;471;471;471	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	471;471;471;471;471;471;67	ENSP00000343764:A471V;ENSP00000434586:A471V;ENSP00000340554:A471V;ENSP00000352154:A471V;ENSP00000354117:A471V;ENSP00000405517:A67V	ENSP00000340554:A471V	A	-	2	0	TTN	179366500	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.744000	0.47450	2.791000	0.96007	0.650000	0.86243	GCG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	64	0	0	0	1	0	20	64				
FANCI	55215	broad.mit.edu	37	15	89804856	89804856	+	Missense_Mutation	SNP	A	A	G	rs368987143		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89804856A>G	ENST00000310775.7	+	5	415	c.329A>G	c.(328-330)aAt>aGt	p.N110S	FANCI_ENST00000300027.8_Missense_Mutation_p.N110S|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.N110S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	110					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAATTAGCCAATGAGTTTATT	0.383								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A|||	1	0.000199681	0.0	0.0	5008	,	,		18203	0.0		0.0	False		,,,				2504	0.001					ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(328-330)aAt>aGt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I		A	SER/ASN,SER/ASN	1,4399	2.1+/-5.4	0,1,2199	184.0	182.0	183.0		329,329	0.1	1.0	15		183	0,8598		0,0,4299	no	missense,missense	FANCI	NM_001113378.1,NM_018193.2	46,46	0,1,6498	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	110/1329,110/1269	89804856	1,12997	2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89804856A>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.329A>G	15.37:g.89804856A>G	ENSP00000310842:p.Asn110Ser					FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.N110S|FANCI_ENST00000300027.8_Missense_Mutation_p.N110S	p.N110S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			5	415	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		110					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.329A>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	4.897	0.166639	0.09339	2.27E-4	0.0	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.44881	0.91;0.91;0.91	5.27	0.0934	0.14477	.	0.602818	0.16783	N	0.199682	T	0.24084	0.0583	L	0.36672	1.1	0.80722	D	1	B;B	0.15141	0.004;0.012	B;B	0.10450	0.005;0.005	T	0.23904	-1.0175	10	0.05620	T	0.96	-5.0289	7.0968	0.25315	0.4734:0.166:0.3606:0.0	.	110;110	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	S	110	ENSP00000300027:N110S;ENSP00000310842:N110S;ENSP00000413249:N110S	ENSP00000300027:N110S	N	+	2	0	FANCI	87605860	0.600000	0.26899	0.988000	0.46212	0.931000	0.56810	-0.135000	0.10420	-0.132000	0.11557	0.533000	0.62120	AAT		0.383	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		11	164	0	0	0	1	0	11	164				
GABRG1	2565	broad.mit.edu	37	4	46060347	46060347	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46060347C>A	ENST00000295452.4	-	7	970	c.803G>T	c.(802-804)aGa>aTa	p.R268I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	268					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCCATTCTTCTGCTCAGGTC	0.318																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(802-804)aGa>aTa		gamma-aminobutyric acid (GABA) A receptor, gamma 1							106.0	108.0	108.0					4																	46060347		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060347C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.803G>T	4.37:g.46060347C>A	ENSP00000295452:p.Arg268Ile						p.R268I	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	970	-			268					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.803G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997052	0.93167	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.96802	-4.13	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.100030	0.64402	D	0.000002	D	0.98814	0.9600	H	0.96996	3.92	0.80722	D	1	D	0.57257	0.979	D	0.65010	0.931	D	0.99376	1.0921	10	0.87932	D	0	.	19.1446	0.93459	0.0:1.0:0.0:0.0	.	268	Q8N1C3	GBRG1_HUMAN	I	268	ENSP00000295452:R268I	ENSP00000295452:R268I	R	-	2	0	GABRG1	45755104	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.705000	0.84606	2.771000	0.95319	0.644000	0.83932	AGA		0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		20	39	1	0	6.44725e-10	1	7.89499e-10	20	39				
DNAH11	8701	broad.mit.edu	37	7	21654888	21654888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21654888C>T	ENST00000409508.3	+	21	4040	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1337*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1337	Stem. {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						TATTTATGTTCGAGTAAGATG	0.333									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.(4009-4011)Cga>Tga		dynein, axonemal, heavy chain 11							143.0	131.0	135.0					7																	21654888		1844	4098	5942	SO:0001587	stop_gained	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.chr7:21654888C>T	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.4009C>T	7.37:g.21654888C>T	ENSP00000475939:p.Arg1337*					DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1337*	p.R1337*			Q96DT5	DYH11_HUMAN			21	4040	+			1337			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.4009C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.336259	0.99385	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.51	1.53	0.23141	.	0.501626	0.21761	N	0.069506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	13.8659	0.63588	0.5946:0.4054:0.0:0.0	.	.	.	.	X	1337	.	ENSP00000330671:R1337X	R	+	1	2	DNAH11	21621413	0.000000	0.05858	0.566000	0.28421	0.861000	0.49209	0.879000	0.28146	0.440000	0.26502	-0.274000	0.10170	CGA		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		32	40	0	0	0	1	0	32	40				
TTN	7273	broad.mit.edu	37	2	179576705	179576705	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179576705T>C	ENST00000591111.1	-	94	27125	c.26901A>G	c.(26899-26901)ggA>ggG	p.G8967G	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.G8040G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.G9284G|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13109	Ig-like 72.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAAACTTCTCCCACGCTGT	0.343																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27850-27852)ggA>ggG		titin							101.0	102.0	101.0					2																	179576705		1838	4092	5930	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576705T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26901A>G	2.37:g.179576705T>C						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G8040G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G8967G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.G9284G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	28076	-			8967			Ig-like 76.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.27852A>G																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	92	0	0	0	1	0	11	92				
ZNF142	7701	broad.mit.edu	37	2	219508951	219508951	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508951G>T	ENST00000449707.1	-	8	2709	c.2288C>A	c.(2287-2289)tCt>tAt	p.S763Y	ZNF142_ENST00000411696.2_Missense_Mutation_p.S763Y	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	763					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGGCTCAGACACTGGCTT	0.522																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2287-2289)tCt>tAt		zinc finger protein 142							97.0	98.0	97.0					2																	219508951		1922	4138	6060	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508951G>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2288C>A	2.37:g.219508951G>T	ENSP00000408643:p.Ser763Tyr					ZNF142_ENST00000449707.1_Missense_Mutation_p.S763Y	p.S763Y			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3067	-		Renal(207;0.0474)	763					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2288C>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	3.664	-0.069010	0.07228	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12984	2.63;2.63	5.07	3.25	0.37280	.	0.827042	0.11123	N	0.597185	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	0.999999	P;P	0.49447	0.924;0.828	B;B	0.40782	0.34;0.34	T	0.20207	-1.0282	10	0.62326	D	0.03	-10.7841	7.0426	0.25029	0.1478:0.0:0.7107:0.1415	.	763;600	P52746;A8MWU9	ZN142_HUMAN;.	Y	763	ENSP00000408643:S763Y;ENSP00000398798:S763Y	ENSP00000398798:S763Y	S	-	2	0	ZNF142	219217195	0.408000	0.25360	0.042000	0.18584	0.071000	0.16799	1.776000	0.38594	0.709000	0.31976	0.655000	0.94253	TCT		0.522	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		47	80	1	0	5.7616e-29	1	7.70675e-29	47	80				
SLC12A6	9990	broad.mit.edu	37	15	34531196	34531196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34531196C>T	ENST00000354181.3	-	20	3094	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	SLC12A6_ENST00000458406.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E817K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E853K|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E680K|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E680K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E859K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E868K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	868					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E859K(1)|p.E817K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGGGCATCTTCGCTTTGACGC	0.517																																						ENST00000354181.3																			2	Substitution - Missense(2)	p.E859K(1)|p.E817K(1)	endometrium(2)	central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2602-2604)Gaa>Aaa		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						161.0	163.0	162.0					15																	34531196		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531196C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2602G>A	15.37:g.34531196C>T	ENSP00000346112:p.Glu868Lys					SLC12A6_ENST00000451844.2_Missense_Mutation_p.E680K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E853K|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E680K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E859K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E817K	p.E868K			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	20	3094	-		all_lung(180;2.78e-08)	868					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2602G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002630	0.74932	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	4.97	4.97	0.65823	.	0.051973	0.85682	D	0.000000	T	0.80691	0.4671	L	0.60455	1.87	0.80722	D	1	P;P;B;B	0.45672	0.864;0.644;0.222;0.039	B;B;B;B	0.32624	0.149;0.067;0.028;0.048	T	0.83251	-0.0053	10	0.45353	T	0.12	.	17.1785	0.86848	0.0:1.0:0.0:0.0	.	853;868;817;680	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	K	817;853;859;809;809;680	ENSP00000290209:E817K;ENSP00000380819:E853K;ENSP00000380814:E809K;ENSP00000387725:E809K;ENSP00000390199:E680K	ENSP00000290209:E817K	E	-	1	0	SLC12A6	32318488	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.635000	0.83286	2.570000	0.86706	0.557000	0.71058	GAA		0.517	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		86	138	0	0	0	1	0	86	138				
ANKRD11	29123	broad.mit.edu	37	16	89350202	89350202	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350202G>T	ENST00000301030.4	-	9	3208	c.2748C>A	c.(2746-2748)aaC>aaA	p.N916K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.N916K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	916	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTCTCAGAGTTTTTATCCA	0.552																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2746-2748)aaC>aaA		ankyrin repeat domain 11							78.0	74.0	75.0					16																	89350202		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350202G>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2748C>A	16.37:g.89350202G>T	ENSP00000301030:p.Asn916Lys					ANKRD11_ENST00000378330.2_Missense_Mutation_p.N916K	p.N916K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3208	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	916			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2748C>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.557324	0.00136	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.36157	1.27;1.27	5.18	-0.376	0.12505	.	0.798396	0.11402	N	0.567700	T	0.18045	0.0433	L	0.29908	0.895	0.09310	N	1	B;B	0.24823	0.112;0.011	B;B	0.20955	0.032;0.004	T	0.31806	-0.9930	10	0.02654	T	1	.	5.2772	0.15657	0.3321:0.0:0.5391:0.1288	.	535;916	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	K	916;916;535	ENSP00000301030:N916K;ENSP00000367581:N916K	ENSP00000301030:N916K	N	-	3	2	ANKRD11	87877703	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.196000	0.17176	-0.166000	0.10890	0.591000	0.81541	AAC		0.552	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		39	66	1	0	1.47244e-24	1	1.95393e-24	39	66				
MUC4	4585	broad.mit.edu	37	3	195474116	195474116	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195474116G>T	ENST00000346145.4	-	24	3501	c.3462C>A	c.(3460-3462)gtC>gtA	p.V1154V	MUC4_ENST00000463781.3_Silent_p.V5390V|MUC4_ENST00000475231.1_Silent_p.V5338V|MUC4_ENST00000349607.4_Silent_p.V1103V	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2147	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGCGCAGGACCACGAACG	0.612																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(16168-16170)gtC>gtA		mucin 4, cell surface associated							84.0	89.0	87.0					3																	195474116		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195474116G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3462C>A	3.37:g.195474116G>T						MUC4_ENST00000349607.4_Silent_p.V1103V|MUC4_ENST00000475231.1_Silent_p.V5338V|MUC4_ENST00000346145.4_Silent_p.V1154V	p.V5390V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	25	16629	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2147					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.16170C>A	CCDS3310.1																																																																																				0.612	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		8	132	1	0	0.000157383	1	0.00017284	8	132				
C1QA	712	broad.mit.edu	37	1	22965859	22965859	+	Missense_Mutation	SNP	G	G	A	rs376612598		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965859G>A	ENST00000374642.3	+	3	901	c.697G>A	c.(697-699)Gac>Aac	p.D233N	C1QA_ENST00000402322.1_Missense_Mutation_p.D233N	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	233	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCTGAGGCCGACAGCGTCTT	0.597																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(697-699)Gac>Aac		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	G	ASN/ASP	0,4406		0,0,2203	39.0	43.0	42.0		697	4.6	1.0	1		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1QA	NM_015991.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	233/246	22965859	1,13005	2203	4300	6503	SO:0001583	missense	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965859G>A	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.697G>A	1.37:g.22965859G>A	ENSP00000363773:p.Asp233Asn					C1QA_ENST00000402322.1_Missense_Mutation_p.D233N	p.D233N	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	901	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	233			C1q.		B2R4X2|Q5T963	Missense_Mutation	SNP	ENST00000374642.3	37	c.697G>A	CCDS226.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.054031	0.36277	0.0	1.16E-4	ENSG00000173372	ENST00000374642;ENST00000402322	T;T	0.75938	-0.98;-0.98	5.55	4.63	0.57726	Tumour necrosis factor-like (2);Complement C1q protein (4);	.	.	.	.	D	0.83170	0.5196	M	0.67569	2.06	0.34550	D	0.711221	D	0.89917	1.0	D	0.75484	0.986	D	0.85106	0.0960	9	0.32370	T	0.25	8.448	13.5752	0.61870	0.0772:0.0:0.9228:0.0	.	233	P02745	C1QA_HUMAN	N	233	ENSP00000363773:D233N;ENSP00000385564:D233N	ENSP00000363773:D233N	D	+	1	0	C1QA	22838446	0.996000	0.38824	0.965000	0.40720	0.444000	0.32077	2.255000	0.43222	2.607000	0.88179	0.561000	0.74099	GAC		0.597	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		14	15	0	0	0	1	0	14	15				
ASIC2	40	broad.mit.edu	37	17	32483422	32483422	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32483422G>A	ENST00000359872.6	-	1	891	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	44					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	ACTGCCCACAGCACACGCCGG	0.592																																						ENST00000359872.6																			0											c.(130-132)Ctg>Ttg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						48.0	53.0	52.0					17																	32483422		2203	4299	6502	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483422G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.130C>T	17.37:g.32483422G>A							p.L44L	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	891	-			44					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.130C>T	CCDS42296.1																																																																																				0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		14	29	0	0	0	1	0	14	29				
KPTN	11133	broad.mit.edu	37	19	47986473	47986473	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47986473C>A	ENST00000338134.3	-	4	502		c.e4-1		KPTN_ENST00000536339.1_Splice_Site|NAPA-AS1_ENST00000593284.1_RNA|KPTN_ENST00000595484.1_Splice_Site|NAPA-AS1_ENST00000594367.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)						actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGCAGCTCTCTGTAGGCAGG	0.602																																						ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.e4-1		kaptin (actin binding protein)							112.0	127.0	122.0					19																	47986473		2119	4235	6354	SO:0001630	splice_region_variant	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47986473C>A	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.395-1G>T	19.37:g.47986473C>A						KPTN_ENST00000536339.1_Splice_Site|KPTN_ENST00000595484.1_Splice_Site		NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	4	502	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)						B3KN86|B4DQ76|Q96GT1	Splice_Site	SNP	ENST00000338134.3	37		CCDS42583.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382545	0.82792	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2429	0.82424	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KPTN	52678285	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	5.388000	0.66249	2.127000	0.65507	0.491000	0.48974	.		0.602	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2		Intron	51	124	1	0	4.86159e-25	1	6.45825e-25	51	124				
PLCL2	23228	broad.mit.edu	37	3	17051820	17051820	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:17051820A>G	ENST00000418129.2	+	2	1069	c.604A>G	c.(604-606)Aag>Gag	p.K202E	PLCL2_ENST00000396755.2_Missense_Mutation_p.K202E|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.K202E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	328	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGAGGTCACAAAGGAAGAATT	0.333																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(604-606)Aag>Gag		phospholipase C-like 2							52.0	55.0	54.0					3																	17051820		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051820A>G	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.604A>G	3.37:g.17051820A>G	ENSP00000409637:p.Lys202Glu					PLCL2_ENST00000432376.1_Missense_Mutation_p.K202E|PLCL2_ENST00000396755.2_Missense_Mutation_p.K202E|PLCL2_ENST00000460467.1_Intron	p.K202E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1069	+			328			PH.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.604A>G	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	A	4.468	0.086746	0.08583	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.41758	0.99;0.99;0.99	5.54	3.02	0.34903	EF-hand-like domain (1);	0.090390	0.85682	D	0.000000	T	0.28863	0.0716	.	.	.	0.53688	D	0.999977	B	0.20780	0.048	B	0.16289	0.015	T	0.05683	-1.0870	8	.	.	.	.	12.5306	0.56113	0.7377:0.2623:0.0:0.0	.	328	Q9UPR0	PLCL2_HUMAN	E	202;329;202;202	ENSP00000409637:K202E;ENSP00000379979:K202E;ENSP00000412836:K202E	.	K	+	1	0	PLCL2	17026824	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	4.154000	0.58125	0.914000	0.36822	0.460000	0.39030	AAG		0.333	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			6	75	0	0	0	1	0	6	75				
MFF	56947	broad.mit.edu	37	2	228205057	228205057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228205057C>T	ENST00000353339.3	+	6	920	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MFF_ENST00000409565.1_Missense_Mutation_p.A134V|MFF_ENST00000524634.1_Missense_Mutation_p.A5V|MFF_ENST00000349901.7_Missense_Mutation_p.A134V|MFF_ENST00000392059.1_Missense_Mutation_p.A160V|MFF_ENST00000304593.9_Missense_Mutation_p.A134V|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.A134V|MFF_ENST00000354503.6_Missense_Mutation_p.A134V|MFF_ENST00000409616.1_Missense_Mutation_p.A134V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	160					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGTGAAAATGCTGTTCGCCAA	0.403																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(478-480)gCt>gTt		mitochondrial fission factor							89.0	83.0	85.0					2																	228205057		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228205057C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.479C>T	2.37:g.228205057C>T	ENSP00000302037:p.Ala160Val					MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_Missense_Mutation_p.A5V|MFF_ENST00000337110.7_Missense_Mutation_p.A134V|MFF_ENST00000392059.1_Missense_Mutation_p.A160V|MFF_ENST00000349901.7_Missense_Mutation_p.A134V|MFF_ENST00000409565.1_Missense_Mutation_p.A134V|MFF_ENST00000304593.9_Missense_Mutation_p.A134V|MFF_ENST00000354503.6_Missense_Mutation_p.A134V|MFF_ENST00000409616.1_Missense_Mutation_p.A134V	p.A160V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			6	920	+			160					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.479C>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073092	0.76415	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000530359;ENST00000531278;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000534203;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.33216	1.42;1.42	5.95	5.95	0.96441	.	0.096412	0.64402	D	0.000001	T	0.49423	0.1556	L	0.50333	1.59	0.48901	D	0.999724	B;B;B;B;P;D	0.55605	0.007;0.033;0.084;0.005;0.849;0.972	B;B;B;B;B;P	0.59948	0.016;0.046;0.022;0.016;0.382;0.866	T	0.18713	-1.0328	10	0.41790	T	0.15	-33.6853	20.3932	0.98965	0.0:1.0:0.0:0.0	.	134;134;134;134;134;160	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	V	134;160;134;5;5;134;134;134;134;5;5;134;160;17	ENSP00000302037:A160V;ENSP00000375912:A160V	ENSP00000304898:A134V	A	+	2	0	MFF	227913301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.430000	0.73391	2.824000	0.97209	0.655000	0.94253	GCT		0.403	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		11	22	0	0	0	1	0	11	22				
ZSCAN22	342945	broad.mit.edu	37	19	58850499	58850499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58850499G>T	ENST00000329665.4	+	3	1430	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	428					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CGACATCTGAGAATCCACTCT	0.572																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1282-1284)aGa>aTa		zinc finger and SCAN domain containing 22							77.0	75.0	75.0					19																	58850499		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850499G>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1283G>T	19.37:g.58850499G>T	ENSP00000332433:p.Arg428Ile						p.R428I	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1430	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	428					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1283G>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228213	0.58777	.	.	ENSG00000182318	ENST00000329665	T	0.24908	1.83	3.84	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49115	0.1538	M	0.82923	2.615	0.48511	D	0.999663	D	0.89917	1.0	D	0.81914	0.995	T	0.52102	-0.8620	9	0.59425	D	0.04	.	9.0854	0.36579	0.1138:0.0:0.8862:0.0	.	428	P10073	ZSC22_HUMAN	I	428	ENSP00000332433:R428I	ENSP00000332433:R428I	R	+	2	0	ZSCAN22	63542311	0.004000	0.15560	0.090000	0.20809	0.342000	0.28953	0.688000	0.25422	2.122000	0.65172	0.563000	0.77884	AGA		0.572	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		29	43	1	0	5.45727e-16	1	7.024e-16	29	43				
BRAF	673	broad.mit.edu	37	7	140508788	140508788	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140508788G>T	ENST00000288602.6	-	4	572	c.512C>A	c.(511-513)gCa>gAa	p.A171E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	171	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCCACACCTTGCAGGTACCTA	0.348		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(511-513)gCa>gAa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						98.0	85.0	90.0					7																	140508788		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140508788G>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.512C>A	7.37:g.140508788G>T	ENSP00000288602:p.Ala171Glu						p.A171E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			4	572	-	Melanoma(164;0.00956)		171			RBD.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.512C>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503177	0.96371	.	.	ENSG00000157764	ENST00000288602	T	0.76968	-1.06	5.82	5.82	0.92795	Raf-like Ras-binding (3);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	P	0.58660	0.843	D	0.83473	0.0060	10	0.87932	D	0	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	171	P15056	BRAF_HUMAN	E	171	ENSP00000288602:A171E	ENSP00000288602:A171E	A	-	2	0	BRAF	140155257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.680000	0.74518	2.745000	0.94114	0.655000	0.94253	GCA		0.348	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	76	1	0	0.000586117	1	0.000636007	24	76				
MEGF8	1954	broad.mit.edu	37	19	42838210	42838210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42838210G>A	ENST00000251268.6	+	3	403	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	MEGF8_ENST00000334370.4_Missense_Mutation_p.A135T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	135	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCTTTAACGCCTCATTCCG	0.652																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(403-405)Gcc>Acc		multiple EGF-like-domains 8							39.0	43.0	42.0					19																	42838210		2106	4221	6327	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42838210G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.403G>A	19.37:g.42838210G>A	ENSP00000251268:p.Ala135Thr					MEGF8_ENST00000251268.6_Missense_Mutation_p.A135T	p.A135T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			3	1038	+		Prostate(69;0.00682)	135			CUB 1.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.403G>A		.	.	.	.	.	.	.	.	.	.	G	24.0	4.485982	0.84854	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.63417	-0.04;-0.04	4.89	4.89	0.63831	.	.	.	.	.	D	0.84624	0.5513	H	0.95816	3.725	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.88761	0.3257	9	0.54805	T	0.06	-12.6721	15.5392	0.76027	0.0:0.0:1.0:0.0	.	135	Q7Z7M0-2	.	T	135	ENSP00000334219:A135T;ENSP00000251268:A135T	ENSP00000251268:A135T	A	+	1	0	MEGF8	47530050	1.000000	0.71417	0.998000	0.56505	0.471000	0.32888	6.508000	0.73721	2.263000	0.75096	0.486000	0.48141	GCC		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	17	0	0	0	1	0	7	17				
TOP1	7150	broad.mit.edu	37	20	39706228	39706228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39706228G>A	ENST00000361337.2	+	5	536	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	96	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.A96S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TCAGGTTCGAGCCTCTGGGGA	0.438			T	NUP98	AML*																																	ENST00000361337.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		1	Substitution - Missense(1)	p.A96S(1)	ovary(1)	breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(286-288)Gcc>Acc		topoisomerase (DNA) I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						124.0	123.0	123.0					20																	39706228		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39706228G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.286G>A	20.37:g.39706228G>A	ENSP00000354522:p.Ala96Thr						p.A96T	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN			5	536	+		Myeloproliferative disorder(115;0.00878)	96			Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.286G>A	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522780	0.27211	.	.	ENSG00000198900	ENST00000361337	T	0.22336	1.96	4.9	3.86	0.44501	.	0.701138	0.14793	N	0.298125	T	0.11196	0.0273	N	0.08118	0	0.34113	D	0.663191	B	0.18741	0.03	B	0.24155	0.051	T	0.14144	-1.0483	10	0.27785	T	0.31	-3.703	10.1455	0.42760	0.0:0.2635:0.7365:0.0	.	96	P11387	TOP1_HUMAN	T	96	ENSP00000354522:A96T	ENSP00000354522:A96T	A	+	1	0	TOP1	39139642	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.248000	0.43160	2.415000	0.81967	0.655000	0.94253	GCC		0.438	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			4	93	0	0	0	1	0	4	93				
C1orf94	84970	broad.mit.edu	37	1	34684349	34684349	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34684349G>A	ENST00000488417.1	+	7	1904	c.1784G>A	c.(1783-1785)gGc>gAc	p.G595D	C1orf94_ENST00000373374.3_Missense_Mutation_p.G405D	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	595										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTGGGAATGGCATAAACTTT	0.507																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1783-1785)gGc>gAc		chromosome 1 open reading frame 94							132.0	127.0	129.0					1																	34684349		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34684349G>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1784G>A	1.37:g.34684349G>A	ENSP00000435634:p.Gly595Asp					C1orf94_ENST00000373374.3_Missense_Mutation_p.G405D	p.G595D	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			7	1904	+		Myeloproliferative disorder(586;0.0393)	405					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.1784G>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902380	0.72754	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.32515	1.52;1.45	5.32	5.32	0.75619	.	0.095663	0.46145	D	0.000316	T	0.54791	0.1880	M	0.70595	2.14	0.41159	D	0.986088	D	0.89917	1.0	D	0.91635	0.999	T	0.58289	-0.7662	10	0.72032	D	0.01	-17.3738	14.5004	0.67716	0.0:0.0:1.0:0.0	.	595	Q6P1W5	CA094_HUMAN	D	405;595	ENSP00000362472:G405D;ENSP00000435634:G595D	ENSP00000362472:G405D	G	+	2	0	C1orf94	34456936	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.204000	0.65180	2.487000	0.83934	0.655000	0.94253	GGC		0.507	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		27	39	0	0	0	1	0	27	39				
CFAP58	159686	broad.mit.edu	37	10	106118367	106118367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106118367C>T	ENST00000369704.3	+	2	412	c.278C>T	c.(277-279)gCa>gTa	p.A93V	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		93						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACCACCATTGCATCCCTAAAG	0.428																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(277-279)gCa>gTa		coiled-coil domain containing 147							76.0	63.0	68.0					10																	106118367		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106118367C>T																												ENST00000369704.3:c.278C>T	10.37:g.106118367C>T	ENSP00000358718:p.Ala93Val					CCDC147_ENST00000312902.5_5'UTR	p.A93V	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	2	412	+		Colorectal(252;0.103)|Breast(234;0.122)	93					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.278C>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954582	0.53293	.	.	ENSG00000120051	ENST00000369704	T	0.34472	1.36	5.46	4.56	0.56223	.	0.378965	0.30989	N	0.008462	T	0.36248	0.0960	L	0.54323	1.7	0.80722	D	1	B	0.16166	0.016	B	0.23275	0.045	T	0.14090	-1.0485	10	0.38643	T	0.18	-2.8868	14.6104	0.68512	0.0:0.9296:0.0:0.0704	.	93	Q5T655	CC147_HUMAN	V	93	ENSP00000358718:A93V	ENSP00000358718:A93V	A	+	2	0	CCDC147	106108357	0.205000	0.23458	0.277000	0.24703	0.995000	0.86356	3.156000	0.50708	1.441000	0.47550	0.655000	0.94253	GCA		0.428	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			22	36	0	0	0	1	0	22	36				
SLAMF6	114836	broad.mit.edu	37	1	160460977	160460977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160460977C>T	ENST00000368057.3	-	3	644	c.584G>A	c.(583-585)tGc>tAc	p.C195Y	SLAMF6_ENST00000368055.1_Missense_Mutation_p.C84Y|SLAMF6_ENST00000368059.3_Missense_Mutation_p.C195Y			Q96DU3	SLAF6_HUMAN	SLAM family member 6	195	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCTGCTATGCAGGTGTAGTC	0.512																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(583-585)tGc>tAc		SLAM family member 6							118.0	114.0	115.0					1																	160460977		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160460977C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.584G>A	1.37:g.160460977C>T	ENSP00000357036:p.Cys195Tyr					SLAMF6_ENST00000368055.1_Missense_Mutation_p.C84Y|SLAMF6_ENST00000368057.3_Missense_Mutation_p.C195Y	p.C195Y	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		3	653	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		195			Ig-like.		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.584G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634382	0.29068	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.58940	1.28;1.28;0.3	4.37	4.37	0.52481	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	M	0.92268	3.29	0.27336	N	0.956648	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	1.0;1.0;1.0;1.0;1.0;1.0	T	0.69672	-0.5082	10	0.87932	D	0	-26.9613	12.6054	0.56521	0.0:1.0:0.0:0.0	.	84;84;146;195;195;195	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	Y	195;195;84	ENSP00000357038:C195Y;ENSP00000357036:C195Y;ENSP00000357034:C84Y	ENSP00000357034:C84Y	C	-	2	0	SLAMF6	158727601	0.913000	0.31002	0.259000	0.24435	0.037000	0.13140	3.423000	0.52756	2.435000	0.82474	0.655000	0.94253	TGC		0.512	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		33	52	0	0	0	1	0	33	52				
PPHLN1	51535	broad.mit.edu	37	12	42840048	42840048	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42840048T>C	ENST00000395568.2	+	12	1390	c.1306T>C	c.(1306-1308)Ttg>Ctg	p.L436L	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Silent_p.L412L|PPHLN1_ENST00000256678.8_Silent_p.L341L	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	436					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		tccagaaaatttgttccttgc	0.478																																						ENST00000432191.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1234-1236)Ttg>Ctg		periphilin 1							26.0	28.0	27.0					12																	42840048		2126	4180	6306	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42840048T>C	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1306T>C	12.37:g.42840048T>C						PPHLN1_ENST00000256678.8_Silent_p.L341L|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Silent_p.L436L	p.L412L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	11	1306	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	436					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.1234T>C	CCDS31777.1																																																																																				0.478	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		11	24	0	0	0	1	0	11	24				
SCARB1	949	broad.mit.edu	37	12	125270966	125270966	+	Silent	SNP	G	G	A	rs528859014		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125270966G>A	ENST00000415380.2	-	11	1463	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	SCARB1_ENST00000339570.5_Silent_p.Y446Y|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.Y446Y|SCARB1_ENST00000541205.1_Silent_p.Y405Y|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000544327.1_Silent_p.Y392Y|SCARB1_ENST00000376788.1_Silent_p.Y346Y|SCARB1_ENST00000540495.1_Silent_p.Y409Y			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	446					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCAGGAGGACGTACTGGGCAT	0.612																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1336-1338)taC>taT		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						175.0	142.0	153.0					12																	125270966		2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125270966G>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1338C>T	12.37:g.125270966G>A						SCARB1_ENST00000544327.1_Silent_p.Y392Y|SCARB1_ENST00000541205.1_Silent_p.Y405Y|SCARB1_ENST00000540495.1_Silent_p.Y409Y|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000415380.2_Silent_p.Y446Y|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Silent_p.Y346Y|SCARB1_ENST00000261693.6_Silent_p.Y446Y	p.Y446Y	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	11	1534	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		446					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.1338C>T																																																																																					0.612	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		29	38	0	0	0	1	0	29	38				
SLC9A7	84679	broad.mit.edu	37	X	46472781	46472781	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46472781C>T	ENST00000328306.4	-	16	1894	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	623					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGCGGGGAGCGTGGTGGTTA	0.498																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(1867-1869)acG>acA		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							124.0	103.0	110.0					X																	46472781		2203	4300	6503	SO:0001819	synonymous_variant	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46472781C>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1869G>A	X.37:g.46472781C>T						SLC9A7_ENST00000464933.1_5'UTR	p.T623T	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			16	1894	-			623					O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	c.1869G>A	CCDS14269.1																																																																																				0.498	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		6	74	0	0	0	1	0	6	74				
CAPN11	11131	broad.mit.edu	37	6	44145044	44145044	+	Missense_Mutation	SNP	G	G	A	rs373070433		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44145044G>A	ENST00000398776.1	+	12	1341	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T	CAPN11_ENST00000542245.1_Missense_Mutation_p.A435T	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	435	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGGATGACGCAGAGGGCAA	0.597																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1303-1305)Gca>Aca		calpain 11		G	THR/ALA	1,4265		0,1,2132	35.0	39.0	38.0		1303	-3.0	0.0	6		38	0,8514		0,0,4257	no	missense	CAPN11	NM_007058.3	58	0,1,6389	AA,AG,GG		0.0,0.0234,0.0078	benign	435/740	44145044	1,12779	2133	4257	6390	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44145044G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1303G>A	6.37:g.44145044G>A	ENSP00000381758:p.Ala435Thr					CAPN11_ENST00000542245.1_Missense_Mutation_p.A435T	p.A435T	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	1341	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		435			Domain III.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1303G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	7.942	0.742942	0.15642	2.34E-4	0.0	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88124	-2.34;-2.34	4.79	-3.01	0.05463	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	5.464210	0.00481	N	0.000123	T	0.52581	0.1743	N	0.20685	0.6	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.48990	-0.8985	10	0.25106	T	0.35	.	1.3438	0.02160	0.2201:0.2736:0.3251:0.1813	.	89;435	B4DT90;Q9UMQ6	.;CAN11_HUMAN	T	435	ENSP00000381758:A435T;ENSP00000441078:A435T	ENSP00000381758:A435T	A	+	1	0	CAPN11	44253022	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.201000	0.09464	-1.321000	0.02281	-2.560000	0.00174	GCA		0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			8	19	0	0	0	1	0	8	19				
KCNB2	9312	broad.mit.edu	37	8	73849975	73849975	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73849975T>A	ENST00000523207.1	+	3	2973	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	795					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AACTGTTCCCTTTCTCTTCAA	0.552																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2383-2385)ccT>ccA		potassium voltage-gated channel, Shab-related subfamily, member 2							44.0	48.0	47.0					8																	73849975		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849975T>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2385T>A	8.37:g.73849975T>A							p.P795P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2973	+	Breast(64;0.137)		795					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.2385T>A	CCDS6209.1																																																																																				0.552	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	43	0	0	0	1	0	5	43				
SETBP1	26040	broad.mit.edu	37	18	42281508	42281508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42281508G>A	ENST00000282030.5	+	2	493	c.197G>A	c.(196-198)gGg>gAg	p.G66E	SETBP1_ENST00000426838.4_Missense_Mutation_p.G66E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	66						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTAGGCTCAGGGCGGGATGTG	0.562									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(196-198)gGg>gAg		SET binding protein 1							88.0	75.0	79.0					18																	42281508		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281508G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.197G>A	18.37:g.42281508G>A	ENSP00000282030:p.Gly66Glu					SETBP1_ENST00000426838.4_Missense_Mutation_p.G66E	p.G66E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	493	+			66					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.197G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932149	0.73442	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.73469	-0.75	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	L	0.50333	1.59	0.40202	D	0.977524	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.989	D	0.84650	0.0700	10	0.62326	D	0.03	.	19.8326	0.96642	0.0:0.0:1.0:0.0	.	66;66	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	E	66	ENSP00000282030:G66E	ENSP00000282030:G66E	G	+	2	0	SETBP1	40535506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.913000	0.56394	2.686000	0.91538	0.591000	0.81541	GGG		0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		18	34	0	0	0	1	0	18	34				
AKR1A1	10327	broad.mit.edu	37	1	46034284	46034284	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46034284T>C	ENST00000372070.3	+	7	1427	c.680T>C	c.(679-681)gTc>gCc	p.V227A	AKR1A1_ENST00000351829.4_Missense_Mutation_p.V227A|AKR1A1_ENST00000473038.1_Intron	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	227					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GATGAGCCTGTCCTGCTGGAG	0.557																																						ENST00000372070.3																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(679-681)gTc>gCc		aldo-keto reductase family 1, member A1 (aldehyde reductase)							103.0	81.0	89.0					1																	46034284		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46034284T>C	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.680T>C	1.37:g.46034284T>C	ENSP00000361140:p.Val227Ala					AKR1A1_ENST00000351829.4_Missense_Mutation_p.V227A	p.V227A	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			7	1427	+	Acute lymphoblastic leukemia(166;0.155)		227					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.680T>C	CCDS523.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607430	0.46527	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.21191	2.02;2.02	6.02	3.75	0.43078	NADP-dependent oxidoreductase domain (3);	0.104673	0.64402	D	0.000004	T	0.12008	0.0292	N	0.16098	0.37	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.08452	-1.0721	10	0.35671	T	0.21	.	9.975	0.41777	0.0:0.1351:0.0:0.8649	.	227	P14550	AK1A1_HUMAN	A	227	ENSP00000361140:V227A;ENSP00000312606:V227A	ENSP00000312606:V227A	V	+	2	0	AKR1A1	45806871	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	6.216000	0.72212	1.121000	0.41925	0.529000	0.55759	GTC		0.557	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		20	30	0	0	0	1	0	20	30				
CHRNB4	1143	broad.mit.edu	37	15	78923638	78923638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78923638G>T	ENST00000261751.3	-	3	352	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	CHRNB4_ENST00000412074.2_Missense_Mutation_p.L81M|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	81					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ACCTGTTTCAGCCAGACATTG	0.552																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(241-243)Ctg>Atg		cholinergic receptor, nicotinic, beta 4 (neuronal)							109.0	101.0	104.0					15																	78923638		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78923638G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.241C>A	15.37:g.78923638G>T	ENSP00000261751:p.Leu81Met					CHRNB4_ENST00000412074.2_Missense_Mutation_p.L81M|CHRNB4_ENST00000560511.1_5'UTR	p.L81M	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			3	352	-			81					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.241C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373629	0.82573	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	T;T	0.81078	-1.45;-1.45	5.25	5.25	0.73442	Neurotransmitter-gated ion-channel ligand-binding (3);	0.080485	0.51477	D	0.000095	D	0.89174	0.6640	M	0.66506	2.035	0.51012	D	0.999906	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.90113	0.4193	10	0.87932	D	0	.	18.9136	0.92496	0.0:0.0:1.0:0.0	.	81;81	E9PHE8;P30926	.;ACHB4_HUMAN	M	81	ENSP00000261751:L81M;ENSP00000416386:L81M	ENSP00000261751:L81M	L	-	1	2	CHRNB4	76710693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.210000	0.58500	2.476000	0.83614	0.638000	0.83543	CTG		0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			32	39	1	0	4.65686e-17	1	6.02554e-17	32	39				
THBS2	7058	broad.mit.edu	37	6	169637723	169637723	+	Missense_Mutation	SNP	G	G	A	rs148970069	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169637723G>A	ENST00000366787.3	-	9	1546	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	433					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACTCACTGCGGGTGTCACAC	0.647													g|||	6	0.00119808	0.0038	0.0014	5008	,	,		17765	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1297-1299)Cgc>Tgc		thrombospondin 2			CYS/ARG	9,4397	15.5+/-35.6	0,9,2194	77.0	72.0	74.0		1297	2.5	0.0	6	dbSNP_134	74	0,8600		0,0,4300	yes	missense	THBS2	NM_003247.2	180	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	433/1173	169637723	9,12997	2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637723G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1297C>T	6.37:g.169637723G>A	ENSP00000355751:p.Arg433Cys					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.R433C	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	9	1546	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	433					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1297C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	g	17.69	3.450982	0.63290	0.002043	0.0	ENSG00000186340	ENST00000366787	D	0.81659	-1.52	4.48	2.53	0.30540	.	0.000000	0.37053	U	0.002272	T	0.81626	0.4862	M	0.66939	2.045	0.54753	D	0.999983	D	0.89917	1.0	P	0.61592	0.891	T	0.82934	-0.0211	10	0.87932	D	0	.	12.3381	0.55079	0.0:0.0:0.6823:0.3177	.	433	P35442	TSP2_HUMAN	C	433	ENSP00000355751:R433C	ENSP00000355751:R433C	R	-	1	0	THBS2	169379648	1.000000	0.71417	0.007000	0.13788	0.620000	0.37586	5.139000	0.64801	0.254000	0.21573	0.552000	0.68991	CGC		0.647	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		5	46	0	0	0	1	0	5	46				
MED4	29079	broad.mit.edu	37	13	48664488	48664488	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48664488C>A	ENST00000258648.2	-	2	217	c.192G>T	c.(190-192)caG>caT	p.Q64H	MED4_ENST00000378586.1_Splice_Site_p.Q18H	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	64					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AGCCACTTACCTGGTTTTCCT	0.294																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.e2+1		mediator complex subunit 4							114.0	132.0	125.0					13																	48664488		2203	4300	6503	SO:0001630	splice_region_variant	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48664488C>A	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.192+1G>T	13.37:g.48664488C>A						MED4_ENST00000378586.1_Splice_Site_p.Q18_splice	p.Q64_splice	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	2	217	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	64					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Splice_Site	SNP	ENST00000258648.2	37	c.192_splice	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714680	0.68730	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.73	4.89	0.63831	.	0.050712	0.85682	D	0.000000	T	0.67887	0.2941	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.67145	0.996;0.986	P;P	0.62014	0.897;0.864	T	0.68360	-0.5429	8	.	.	.	-23.713	10.1234	0.42634	0.0:0.8487:0.0:0.1513	.	42;64	E9PDW1;Q9NPJ6	.;MED4_HUMAN	H	64;42;18;42	.	.	Q	-	3	2	MED4	47562489	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.026000	0.49689	1.545000	0.49373	0.655000	0.94253	CAG		0.294	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166	Missense_Mutation	11	181	1	0	0.000673444	1	0.000724755	11	181				
CELSR2	1952	broad.mit.edu	37	1	109794125	109794125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794125G>A	ENST00000271332.3	+	1	1485	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	475	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACGGGTGCGAGCACAGGAT	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1423-1425)cGa>cAa		cadherin, EGF LAG seven-pass G-type receptor 2							172.0	165.0	167.0					1																	109794125		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794125G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1424G>A	1.37:g.109794125G>A	ENSP00000271332:p.Arg475Gln						p.R475Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1485	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	475			Cadherin 3.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1424G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	17.27	3.347314	0.61183	.	.	ENSG00000143126	ENST00000271332	T	0.01725	4.67	4.82	4.82	0.62117	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01061	0.0035	N	0.02247	-0.625	0.46131	D	0.998886	D	0.62365	0.991	P	0.61477	0.889	T	0.75744	-0.3210	9	0.38643	T	0.18	.	11.6134	0.51074	0.0811:0.0:0.9189:0.0	.	475	Q9HCU4	CELR2_HUMAN	Q	475	ENSP00000271332:R475Q	ENSP00000271332:R475Q	R	+	2	0	CELSR2	109595648	0.885000	0.30320	0.754000	0.31244	0.412000	0.31113	2.741000	0.47426	2.543000	0.85770	0.555000	0.69702	CGA		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		28	279	0	0	0	1	0	28	279				
GTDC1	79712	broad.mit.edu	37	2	144764824	144764824	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144764824G>T	ENST00000392869.2	-	6	952	c.800C>A	c.(799-801)aCt>aAt	p.T267N	GTDC1_ENST00000344850.4_Missense_Mutation_p.T267N|GTDC1_ENST00000463875.2_Missense_Mutation_p.T138N|GTDC1_ENST00000392867.3_Missense_Mutation_p.T267N|GTDC1_ENST00000542155.1_Missense_Mutation_p.T267N|GTDC1_ENST00000409214.1_Missense_Mutation_p.T267N|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.T267N	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	267					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGGATCAACAGTCAGATTTTG	0.398																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(799-801)aCt>aAt		glycosyltransferase-like domain containing 1							125.0	116.0	119.0					2																	144764824		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144764824G>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.800C>A	2.37:g.144764824G>T	ENSP00000376608:p.Thr267Asn					GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000392867.3_Missense_Mutation_p.T267N|GTDC1_ENST00000344850.4_Missense_Mutation_p.T267N|GTDC1_ENST00000241391.5_Missense_Mutation_p.T267N|GTDC1_ENST00000542155.1_Missense_Mutation_p.T267N|GTDC1_ENST00000463875.2_Missense_Mutation_p.T138N|GTDC1_ENST00000392869.1_Missense_Mutation_p.T267N	p.T267N	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	1078	-			267					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.800C>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738064	0.49045	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.44482	0.93;0.93;0.93;0.93;0.93;0.93;0.92	4.91	4.91	0.64330	.	0.366702	0.30473	N	0.009560	T	0.35189	0.0923	L	0.53249	1.67	0.29741	N	0.837093	P;B;B;P	0.40107	0.703;0.4;0.278;0.465	B;B;B;B	0.37508	0.252;0.252;0.082;0.165	T	0.28170	-1.0052	10	0.15499	T	0.54	-10.5375	11.9192	0.52783	0.0808:0.0:0.9192:0.0	.	267;267;267;267	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	N	267;267;267;267;267;267;138	ENSP00000376608:T267N;ENSP00000386581:T267N;ENSP00000376606:T267N;ENSP00000438323:T267N;ENSP00000241391:T267N;ENSP00000339750:T267N;ENSP00000437964:T138N	ENSP00000241391:T267N	T	-	2	0	GTDC1	144481294	1.000000	0.71417	0.063000	0.19743	0.379000	0.30106	3.705000	0.54823	2.411000	0.81874	0.655000	0.94253	ACT		0.398	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		11	50	1	0	2.68362e-12	1	3.37045e-12	11	50				
FADS2	9415	broad.mit.edu	37	11	61608110	61608110	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608110G>T	ENST00000278840.4	+	4	1161	c.531G>T	c.(529-531)tgG>tgT	p.W177C	FADS2_ENST00000521849.1_Missense_Mutation_p.W177C|FADS2_ENST00000257261.6_Missense_Mutation_p.W155C|FADS2_ENST00000522056.1_Missense_Mutation_p.W146C	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	177					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AAGCTGGATGGCTGCAACATG	0.542																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(529-531)tgG>tgT		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						194.0	177.0	183.0					11																	61608110		2202	4299	6501	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61608110G>T	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.531G>T	11.37:g.61608110G>T	ENSP00000278840:p.Trp177Cys					FADS2_ENST00000257261.6_Missense_Mutation_p.W155C|FADS2_ENST00000522056.1_Missense_Mutation_p.W146C|FADS2_ENST00000521849.1_Missense_Mutation_p.W177C	p.W177C	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			4	1161	+			177					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	c.531G>T	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086121	0.36855	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	4.81	3.89	0.44902	Fatty acid desaturase, type 1 (1);	0.000000	0.52532	D	0.000070	T	0.23133	0.0559	L	0.49778	1.585	0.80722	D	1	B;B;B;B	0.31100	0.11;0.11;0.308;0.044	B;B;B;B	0.40565	0.159;0.159;0.333;0.049	T	0.04333	-1.0959	10	0.44086	T	0.13	-24.4417	14.0816	0.64925	0.0:0.0:0.8479:0.1521	.	146;177;177;155	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	C	155;146;55;177;55;177	ENSP00000257261:W155C;ENSP00000429500:W146C;ENSP00000430054:W55C;ENSP00000278840:W177C;ENSP00000430225:W55C;ENSP00000431091:W177C	ENSP00000257261:W155C	W	+	3	0	FADS2	61364686	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.779000	0.62375	1.222000	0.43521	0.591000	0.81541	TGG		0.542	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		51	92	1	0	1.72184e-34	1	2.31481e-34	51	92				
BPTF	2186	broad.mit.edu	37	17	65978371	65978371	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65978371T>A	ENST00000321892.4	+	30	9169	c.9108T>A	c.(9106-9108)tcT>tcA	p.S3036S	BPTF_ENST00000335221.5_Silent_p.S2893S|BPTF_ENST00000424123.3_Silent_p.S2754S|BPTF_ENST00000306378.6_Silent_p.S2910S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3036					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGTAGGTCTCATAACAACA	0.368																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(9106-9108)tcT>tcA		bromodomain PHD finger transcription factor							94.0	83.0	87.0					17																	65978371		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65978371T>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.9108T>A	17.37:g.65978371T>A						BPTF_ENST00000335221.5_Silent_p.S2893S|BPTF_ENST00000306378.6_Silent_p.S2910S|BPTF_ENST00000424123.3_Silent_p.S2754S	p.S3036S			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		30	9169	+	all_cancers(12;6e-11)		3036					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.9108T>A																																																																																					0.368	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		21	20	0	0	0	1	0	21	20				
IL26	55801	broad.mit.edu	37	12	68619372	68619372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619372C>T	ENST00000229134.4	-	1	229	c.165G>A	c.(163-165)acG>acA	p.T55T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	55					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGGAATCGTTGCTTTGA	0.408																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(163-165)acG>acA		interleukin 26							224.0	204.0	211.0					12																	68619372		2203	4300	6503	SO:0001819	synonymous_variant	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619372C>T	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.165G>A	12.37:g.68619372C>T						IFNG-AS1_ENST00000536914.1_RNA	p.T55T	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	229	-			55						Silent	SNP	ENST00000229134.4	37	c.165G>A	CCDS8981.1																																																																																				0.408	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		68	119	0	0	0	1	0	68	119				
CLIP4	79745	broad.mit.edu	37	2	29383270	29383270	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29383270G>T	ENST00000320081.5	+	12	1726	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	CLIP4_ENST00000401617.2_Missense_Mutation_p.V384L|CLIP4_ENST00000404424.1_Missense_Mutation_p.V491L|CLIP4_ENST00000401605.1_Missense_Mutation_p.V491L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	491										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CGGAGAGAGAGTGTTAGTGGT	0.468																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(1471-1473)Gtg>Ttg		CAP-GLY domain containing linker protein family, member 4							115.0	108.0	110.0					2																	29383270		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29383270G>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1471G>T	2.37:g.29383270G>T	ENSP00000327009:p.Val491Leu					CLIP4_ENST00000401605.1_Missense_Mutation_p.V491L|CLIP4_ENST00000401617.2_Missense_Mutation_p.V384L|CLIP4_ENST00000404424.1_Missense_Mutation_p.V491L	p.V491L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			12	1726	+	Acute lymphoblastic leukemia(172;0.155)		491					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1471G>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173862	0.78452	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	6.16	5.28	0.74379	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	M	0.89163	3.01	0.50171	D	0.999856	D	0.71674	0.998	D	0.83275	0.996	D	0.94728	0.7907	10	0.87932	D	0	.	16.5786	0.84707	0.0:0.1306:0.8694:0.0	.	491	Q8N3C7	CLIP4_HUMAN	L	491;384;491;491;491;509;451	ENSP00000384242:V491L;ENSP00000385148:V384L;ENSP00000385594:V491L;ENSP00000327009:V491L	ENSP00000327009:V491L	V	+	1	0	CLIP4	29236774	1.000000	0.71417	0.044000	0.18714	0.035000	0.12851	8.600000	0.90860	1.607000	0.50170	0.650000	0.86243	GTG		0.468	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		6	82	1	0	1.06961e-07	1	1.26574e-07	6	82				
OR2V2	285659	broad.mit.edu	37	5	180582541	180582541	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180582541T>C	ENST00000328275.1	+	1	599	c.599T>C	c.(598-600)aTa>aCa	p.I200T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAAGGTGATATTTGCTTGC	0.483																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(598-600)aTa>aCa		olfactory receptor, family 2, subfamily V, member 2							343.0	329.0	334.0					5																	180582541		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582541T>C	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.599T>C	5.37:g.180582541T>C	ENSP00000332185:p.Ile200Thr						p.I200T	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	599	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	200					Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.599T>C	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	5.296	0.240071	0.10023	.	.	ENSG00000182613	ENST00000328275	T	0.00145	8.67	3.38	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	1.293150	0.05750	N	0.602987	T	0.00109	0.0003	N	0.16656	0.425	0.09310	N	1	B	0.32753	0.383	B	0.30943	0.122	T	0.21621	-1.0240	10	0.87932	D	0	.	6.7815	0.23648	0.0:0.1199:0.0:0.8801	.	200	Q96R30	OR2V2_HUMAN	T	200	ENSP00000332185:I200T	ENSP00000332185:I200T	I	+	2	0	OR2V2	180515147	0.000000	0.05858	0.007000	0.13788	0.590000	0.36582	0.396000	0.20867	0.487000	0.27698	0.254000	0.18369	ATA		0.483	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			77	98	0	0	0	1	0	77	98				
DUOX1	53905	broad.mit.edu	37	15	45440173	45440173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45440173G>T	ENST00000321429.4	+	21	3027	c.2620G>T	c.(2620-2622)Gat>Tat	p.D874Y	DUOX1_ENST00000389037.3_Missense_Mutation_p.D874Y|DUOX1_ENST00000561166.1_Missense_Mutation_p.D520Y	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	874	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATTTCCAAGGATGAGTTCAT	0.537																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2620-2622)Gat>Tat		dual oxidase 1							144.0	135.0	138.0					15																	45440173		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45440173G>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2620G>T	15.37:g.45440173G>T	ENSP00000317997:p.Asp874Tyr					DUOX1_ENST00000389037.3_Missense_Mutation_p.D874Y|DUOX1_ENST00000561166.1_Missense_Mutation_p.D520Y	p.D874Y	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	21	3027	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	874			EF-hand 2.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.2620G>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769013	0.90020	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73897	-0.79;-0.79	5.38	5.38	0.77491	EF-hand-like domain (1);	0.241555	0.47093	D	0.000259	D	0.86477	0.5942	M	0.82923	2.615	0.80722	D	1	D;D	0.62365	0.991;0.987	D;P	0.66497	0.944;0.905	D	0.87830	0.2644	10	0.72032	D	0.01	-8.0515	16.6621	0.85243	0.0:0.0:1.0:0.0	.	7;874	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	Y	874	ENSP00000317997:D874Y;ENSP00000373689:D874Y	ENSP00000317997:D874Y	D	+	1	0	DUOX1	43227465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.801000	0.96364	0.655000	0.94253	GAT		0.537	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		27	68	1	0	7.76418e-22	1	1.02329e-21	27	68				
KCMF1	56888	broad.mit.edu	37	2	85280333	85280333	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85280333G>A	ENST00000409785.4	+	7	1306	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	316							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CGTGCAGACCGCAGCCTGTTT	0.468																																						ENST00000409785.3																			0				ovary(3)	3						c.(946-948)cGc>cAc		potassium channel modulatory factor 1							50.0	55.0	54.0					2																	85280333		1976	4170	6146	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85280333G>A	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.947G>A	2.37:g.85280333G>A	ENSP00000386738:p.Arg316His						p.R316H	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			7	1306	+			316					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.947G>A	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111499	0.94339	.	.	ENSG00000176407	ENST00000409785	T	0.58797	0.31	6.07	6.07	0.98685	.	0.048222	0.85682	D	0.000000	T	0.75539	0.3863	M	0.67397	2.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.75819	-0.3183	10	0.72032	D	0.01	-3.2309	18.1463	0.89656	0.0:0.0:1.0:0.0	.	316	Q9P0J7	KCMF1_HUMAN	H	316	ENSP00000386738:R316H	ENSP00000386738:R316H	R	+	2	0	KCMF1	85133844	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.794000	0.85869	2.890000	0.99128	0.585000	0.79938	CGC		0.468	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		11	16	0	0	0	1	0	11	16				
PDLIM1	9124	broad.mit.edu	37	10	97028547	97028547	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97028547G>T	ENST00000329399.6	-	3	429	c.321C>A	c.(319-321)gcC>gcA	p.A107A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	107					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGGGTTCAGAGGCTAAATTCA	0.488																																						ENST00000329399.6																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10						c.(319-321)gcC>gcA		PDZ and LIM domain 1							209.0	158.0	176.0					10																	97028547		2203	4300	6503	SO:0001819	synonymous_variant	9124				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	g.chr10:97028547G>T	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.321C>A	10.37:g.97028547G>T						PDLIM1_ENST00000477757.1_5'UTR	p.A107A	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	3	429	-		Colorectal(252;0.083)	107					B2RBS6|Q5VZH5|Q9BPZ9	Silent	SNP	ENST00000329399.6	37	c.321C>A	CCDS7441.1																																																																																				0.488	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			10	61	1	0	1.58986e-06	1	1.84011e-06	10	61				
MCAT	27349	broad.mit.edu	37	22	43529484	43529484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529484C>T	ENST00000290429.6	-	4	783	c.738G>A	c.(736-738)cgG>cgA	p.R246R	MCAT_ENST00000327555.5_Missense_Mutation_p.V174I	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	246					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TCTGGAGAAACCGTAGAGCCT	0.552																																						ENST00000327555.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(520-522)Gtt>Att		malonyl CoA:ACP acyltransferase (mitochondrial)							18.0	20.0	19.0					22																	43529484		2203	4300	6503	SO:0001819	synonymous_variant	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529484C>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.738G>A	22.37:g.43529484C>T						MCAT_ENST00000290429.5_Silent_p.R246R	p.V174I	NM_014507.3	NP_055322.1	Q8IVS2	FABD_HUMAN			3	535	-		Ovarian(80;0.0694)	0					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.520G>A	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548762	0.27652	.	.	ENSG00000100294	ENST00000327555	.	.	.	5.26	3.13	0.36017	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.80722	D	1	P	0.37370	0.592	B	0.43701	0.428	T	0.38866	-0.9641	7	0.42905	T	0.14	-26.3882	4.0434	0.09761	0.1327:0.5991:0.1282:0.14	.	174	B0QY72	.	I	174	.	ENSP00000331306:V174I	V	-	1	0	MCAT	41859428	0.761000	0.28439	0.927000	0.36925	0.582000	0.36321	0.049000	0.14099	0.694000	0.31654	0.655000	0.94253	GTT		0.552	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		5	10	0	0	0	1	0	5	10				
SARM1	23098	broad.mit.edu	37	17	26715466	26715466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26715466G>A	ENST00000457710.3	+	7	2200	c.1729G>A	c.(1729-1731)Gtc>Atc	p.V577I	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	611	TIR.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATCCAGAGTGTCATGGGTGC	0.527																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1729-1731)Gtc>Atc		sterile alpha and TIR motif containing 1							185.0	159.0	168.0					17																	26715466		2203	4300	6503	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26715466G>A	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1729G>A	17.37:g.26715466G>A	ENSP00000406738:p.Val577Ile					SARM1_ENST00000379061.4_3'UTR	p.V577I	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	2200	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		611			TIR.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1729G>A		.	.	.	.	.	.	.	.	.	.	G	9.423	1.083639	0.20309	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.39	4.37	0.52481	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.063428	0.64402	N	0.000006	T	0.34048	0.0884	.	.	.	0.51233	D	0.99991	B	0.11235	0.004	B	0.16722	0.016	T	0.20009	-1.0288	8	0.02654	T	1	-38.2159	12.088	0.53708	0.0832:0.0:0.9168:0.0	.	611	Q6SZW1	SARM1_HUMAN	I	609;577	.	ENSP00000003834:V577I	V	+	1	0	SARM1	23739593	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.576000	0.74023	1.390000	0.46547	0.655000	0.94253	GTC		0.527	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		31	64	0	0	0	1	0	31	64				
ASH2L	9070	broad.mit.edu	37	8	37985945	37985945	+	Silent	SNP	C	C	T	rs145960167		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37985945C>T	ENST00000343823.6	+	11	1611	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	ASH2L_ENST00000521652.1_Silent_p.T340T|ASH2L_ENST00000428278.2_Silent_p.T340T|ASH2L_ENST00000250635.7_Silent_p.T340T|ASH2L_ENST00000545394.1_Silent_p.T295T	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	434	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CACCAGATACCGCTGCCAGAC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		16553	0.001		0.0	False		,,,				2504	0.0					ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(1300-1302)acC>acT		ash2 (absent, small, or homeotic)-like (Drosophila)							79.0	75.0	76.0					8																	37985945		2203	4300	6503	SO:0001819	synonymous_variant	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37985945C>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1302C>T	8.37:g.37985945C>T						ASH2L_ENST00000545394.1_Silent_p.T295T|ASH2L_ENST00000250635.7_Silent_p.T340T|ASH2L_ENST00000428278.2_Silent_p.T340T|ASH2L_ENST00000521652.1_Silent_p.T340T	p.T434T	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			11	1611	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	434			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Silent	SNP	ENST00000343823.6	37	c.1302C>T	CCDS6101.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.535	1.111942	0.20714	.	.	ENSG00000129691	ENST00000524247	.	.	.	5.79	-6.32	0.01995	.	.	.	.	.	T	0.33030	0.0849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46470	-0.9189	4	.	.	.	.	0.0645	0.00017	0.2888:0.2075:0.2338:0.2699	.	.	.	.	C	30	.	.	R	+	1	0	ASH2L	38105102	0.032000	0.19561	0.991000	0.47740	0.847000	0.48162	-0.982000	0.03762	-0.440000	0.07211	-0.474000	0.04947	CGC		0.532	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		14	25	0	0	0	1	0	14	25				
XDH	7498	broad.mit.edu	37	2	31565075	31565075	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31565075T>G	ENST00000379416.3	-	32	3541	c.3493A>C	c.(3493-3495)Atc>Ctc	p.I1165L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1165					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGGCAGTCGATTTCTACTTCA	0.448																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3493-3495)Atc>Ctc		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						125.0	119.0	121.0					2																	31565075		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31565075T>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3493A>C	2.37:g.31565075T>G	ENSP00000368727:p.Ile1165Leu						p.I1165L	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			32	3541	-	Acute lymphoblastic leukemia(172;0.155)		1165					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3493A>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721550	0.48728	.	.	ENSG00000158125	ENST00000379416	T	0.45668	0.89	5.77	4.61	0.57282	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59461	-0.7450	10	0.59425	D	0.04	.	11.5745	0.50854	0.0:0.0703:0.0:0.9297	.	1165	P47989	XDH_HUMAN	L	1165	ENSP00000368727:I1165L	ENSP00000368727:I1165L	I	-	1	0	XDH	31418579	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	4.842000	0.62831	1.006000	0.39211	-0.441000	0.05720	ATC		0.448	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		9	73	0	0	0	1	0	9	73				
CYP27A1	1593	broad.mit.edu	37	2	219679381	219679381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679381G>A	ENST00000258415.4	+	8	1804	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	459					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CTACCCCCAGGATCCAGCACC	0.632																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(1375-1377)agG>agA		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						34.0	40.0	38.0					2																	219679381		2201	4294	6495	SO:0001819	synonymous_variant	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679381G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1377G>A	2.37:g.219679381G>A							p.R459R	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	8	1804	+		Renal(207;0.0474)	459					A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	c.1377G>A	CCDS2423.1																																																																																				0.632	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			13	26	0	0	0	1	0	13	26				
BCAN	63827	broad.mit.edu	37	1	156617885	156617885	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156617885A>G	ENST00000329117.5	+	5	1088	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	BCAN_ENST00000361588.5_Missense_Mutation_p.Y251C|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	251	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTACTGTTATGCTGAAGAC	0.567																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(751-753)tAt>tGt		brevican							149.0	137.0	141.0					1																	156617885		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617885A>G	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.752A>G	1.37:g.156617885A>G	ENSP00000331210:p.Tyr251Cys					BCAN_ENST00000361588.5_Missense_Mutation_p.Y251C|RP11-284F21.7_ENST00000448869.1_RNA	p.Y251C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			5	1088	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		251			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.752A>G	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051692	0.55218	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.12361	2.69;2.69;2.69	4.0	4.0	0.46444	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.52532	D	0.000065	T	0.29158	0.0725	M	0.83603	2.65	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12785	-1.0534	10	0.87932	D	0	-8.0413	11.8766	0.52550	1.0:0.0:0.0:0.0	.	251;251	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	C	192;251;149;251	ENSP00000331210:Y251C;ENSP00000401709:Y149C;ENSP00000354925:Y251C	ENSP00000255029:Y192C	Y	+	2	0	BCAN	154884509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.810000	0.69179	1.677000	0.50941	0.454000	0.30748	TAT		0.567	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		6	115	0	0	0	1	0	6	115				
GRWD1	83743	broad.mit.edu	37	19	48956129	48956129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48956129C>T	ENST00000253237.5	+	7	1421	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	396						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACGTGGAGGCCGACCCCGGAC	0.701																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(1186-1188)gcC>gcT		glutamate-rich WD repeat containing 1							33.0	31.0	32.0					19																	48956129		2201	4297	6498	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48956129C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1188C>T	19.37:g.48956129C>T							p.A396A	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1421	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	396					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.1188C>T	CCDS12720.1																																																																																				0.701	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		9	23	0	0	0	1	0	9	23				
RPAP2	79871	broad.mit.edu	37	1	92769570	92769570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92769570G>A	ENST00000610020.1	+	4	380	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	91					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGTGATGTCGTGGATGAACG	0.348																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(271-273)Gtg>Atg		RNA polymerase II associated protein 2							102.0	105.0	104.0					1																	92769570		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92769570G>A	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.271G>A	1.37:g.92769570G>A	ENSP00000476948:p.Val91Met					RPAP2_ENST00000484158.1_3'UTR	p.V91M	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	4	380	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	91					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.271G>A	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074029	0.76415	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.37	5.37	0.77165	Protein of unknown function DUF408 (2);	0.204858	0.42294	D	0.000728	T	0.81978	0.4937	M	0.87682	2.9	0.40076	D	0.976075	D	0.89917	1.0	D	0.91635	0.999	D	0.85106	0.0960	8	0.87932	D	0	-8.3168	16.8935	0.86094	0.0:0.0:1.0:0.0	.	91	Q8IXW5	RPAP2_HUMAN	M	91	.	ENSP00000359368:V91M	V	+	1	0	RPAP2	92542158	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	5.090000	0.64498	2.529000	0.85273	0.585000	0.79938	GTG		0.348	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		6	84	0	0	0	1	0	6	84				
KIAA2022	340533	broad.mit.edu	37	X	73960018	73960018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960018T>G	ENST00000055682.6	-	3	4985	c.4374A>C	c.(4372-4374)agA>agC	p.R1458S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1458					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTCTCATCTCTCAGGGCCT	0.433																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4372-4374)agA>agC		KIAA2022							201.0	163.0	176.0					X																	73960018		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960018T>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4374A>C	X.37:g.73960018T>G	ENSP00000055682:p.Arg1458Ser					KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1458S	p.R1458S			Q5QGS0	K2022_HUMAN			3	5025	-			1458					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4374A>C	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304810	0.60305	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.55760	0.5;0.5	5.36	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.56878	-0.7906	10	0.87932	D	0	-15.5355	5.0329	0.14419	0.0:0.5788:0.0:0.4212	.	1458	Q5QGS0	K2022_HUMAN	S	1458	ENSP00000362567:R1458S;ENSP00000055682:R1458S	ENSP00000055682:R1458S	R	-	3	2	KIAA2022	73876743	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.803000	0.55560	0.691000	0.31592	0.441000	0.28932	AGA		0.433	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		7	93	0	0	0	1	0	7	93				
FLNA	2316	broad.mit.edu	37	X	153592950	153592950	+	Missense_Mutation	SNP	G	G	T	rs137853311		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592950G>T	ENST00000369850.3	-	13	2202	c.1966C>A	c.(1966-1968)Ctc>Atc	p.L656I	FLNA_ENST00000422373.1_Missense_Mutation_p.L656I|FLNA_ENST00000344736.4_Missense_Mutation_p.L656I|FLNA_ENST00000360319.4_Missense_Mutation_p.L656I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	656			L -> F (in PVNH1). {ECO:0000269|PubMed:11532987}.		actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGGCTGAGGCGGATGTCT	0.622																																						ENST00000422373.1																			0				breast(6)	6	GRCh37	CM012746	FLNA	M	rs137853311	c.(1966-1968)Ctc>Atc		filamin A, alpha							49.0	54.0	52.0					X																	153592950		2174	4240	6414	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592950G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1966C>A	X.37:g.153592950G>T	ENSP00000358866:p.Leu656Ile					FLNA_ENST00000344736.4_Missense_Mutation_p.L656I|FLNA_ENST00000360319.4_Missense_Mutation_p.L656I|FLNA_ENST00000369850.3_Missense_Mutation_p.L656I	p.L656I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			13	2214	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		656		L -> F (in PVNH1).			E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1966C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173431	0.57584	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91843	-2.82;-2.82;-2.92;-2.92	4.95	4.09	0.47781	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.085531	0.47093	D	0.000253	D	0.87838	0.6278	N	0.22421	0.69	0.80722	D	1	P;P	0.43885	0.82;0.769	B;P	0.46885	0.395;0.53	D	0.86656	0.1901	10	0.62326	D	0.03	.	9.4185	0.38536	0.0848:0.1511:0.7642:0.0	.	656;656	P21333-2;P21333	.;FLNA_HUMAN	I	656;629;656;656;656	ENSP00000353467:L656I;ENSP00000416926:L656I;ENSP00000358866:L656I;ENSP00000358863:L656I	ENSP00000358863:L656I	L	-	1	0	FLNA	153246144	0.971000	0.33674	1.000000	0.80357	0.949000	0.60115	1.659000	0.37387	0.881000	0.35993	0.525000	0.51046	CTC		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			15	33	1	0	1.3612e-06	1	1.57881e-06	15	33				
PTPRA	5786	broad.mit.edu	37	20	3018748	3018748	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3018748A>G	ENST00000216877.6	+	23	2751	c.2351A>G	c.(2350-2352)gAt>gGt	p.D784G	PTPRA_ENST00000358719.4_Missense_Mutation_p.D649G|PTPRA_ENST00000380393.3_Missense_Mutation_p.D793G|PTPRA_ENST00000399903.2_Missense_Mutation_p.D793G|PTPRA_ENST00000425918.2_Missense_Mutation_p.D804G|PTPRA_ENST00000318266.5_Missense_Mutation_p.D784G|PTPRA_ENST00000356147.3_Missense_Mutation_p.D784G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	793	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGTATATTGATGCATTCTCA	0.413																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2350-2352)gAt>gGt		protein tyrosine phosphatase, receptor type, A							177.0	146.0	157.0					20																	3018748		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3018748A>G		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2351A>G	20.37:g.3018748A>G	ENSP00000216877:p.Asp784Gly					PTPRA_ENST00000358719.4_Missense_Mutation_p.D649G|PTPRA_ENST00000356147.3_Missense_Mutation_p.D784G|PTPRA_ENST00000380393.3_Missense_Mutation_p.D793G|PTPRA_ENST00000425918.2_Missense_Mutation_p.D804G|PTPRA_ENST00000399903.2_Missense_Mutation_p.D793G|PTPRA_ENST00000318266.5_Missense_Mutation_p.D784G	p.D784G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			23	2751	+			793			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2351A>G	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628920	0.46944	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.03772	3.86;3.86;3.86;3.81;3.86;3.86;3.86	5.5	5.5	0.81552	Protein-tyrosine phosphatase, receptor/non-receptor type (1);	0.000000	0.85682	U	0.000000	T	0.06645	0.0170	L	0.46885	1.475	0.80722	D	1	B;P;B	0.51449	0.005;0.945;0.056	B;P;B	0.45232	0.026;0.474;0.181	T	0.29212	-1.0019	10	0.06236	T	0.91	.	15.6068	0.76679	1.0:0.0:0.0:0.0	.	804;793;784	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	G	793;784;793;649;403;804;784;784	ENSP00000369756:D793G;ENSP00000216877:D784G;ENSP00000382787:D793G;ENSP00000351559:D649G;ENSP00000393553:D804G;ENSP00000314568:D784G;ENSP00000348468:D784G	ENSP00000216877:D784G	D	+	2	0	PTPRA	2966748	1.000000	0.71417	0.262000	0.24481	0.967000	0.64934	9.271000	0.95698	2.084000	0.62774	0.460000	0.39030	GAT		0.413	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			9	37	0	0	0	1	0	9	37				
OR1J1	347168	broad.mit.edu	37	9	125239577	125239577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125239577G>A	ENST00000259357.2	-	1	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCACAGGAATGGAAGCATAAT	0.493																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(628-630)cCa>cTa		olfactory receptor, family 1, subfamily J, member 1							137.0	121.0	126.0					9																	125239577		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239577G>A	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.629C>T	9.37:g.125239577G>A	ENSP00000259357:p.Pro210Leu						p.P210L	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	658	-			210					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.629C>T	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409757	0.42715	.	.	ENSG00000136834	ENST00000259357	T	0.56103	0.48	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.75889	0.3911	M	0.87097	2.86	0.47009	D	0.999285	D	0.89917	1.0	D	0.87578	0.998	T	0.80115	-0.1517	10	0.87932	D	0	.	15.6134	0.76744	0.0:0.0:1.0:0.0	.	210	Q8NGS3	OR1J1_HUMAN	L	210	ENSP00000259357:P210L	ENSP00000259357:P210L	P	-	2	0	OR1J1	124279398	0.021000	0.18746	0.766000	0.31476	0.014000	0.08584	2.042000	0.41222	2.754000	0.94517	0.597000	0.82753	CCA		0.493	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			7	46	0	0	0	1	0	7	46				
PKHD1	5314	broad.mit.edu	37	6	51695675	51695675	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51695675G>A	ENST00000371117.3	-	52	8561	c.8286C>T	c.(8284-8286)gaC>gaT	p.D2762D	PKHD1_ENST00000340994.4_Silent_p.D2762D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2762	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATGAGAACGTCATCCCCAG	0.453																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8284-8286)gaC>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)							128.0	116.0	120.0					6																	51695675		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51695675G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8286C>T	6.37:g.51695675G>A						PKHD1_ENST00000340994.4_Silent_p.D2762D	p.D2762D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			52	8561	-	Lung NSC(77;0.0605)		2762			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.8286C>T	CCDS4935.1																																																																																				0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		33	37	0	0	0	1	0	33	37				
XPC	7508	broad.mit.edu	37	3	14200186	14200186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14200186G>A	ENST00000285021.7	-	9	1411	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	XPC_ENST00000449060.2_Silent_p.S362S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	399					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCTTCCTCGCTGGAGGAGG	0.597			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1195-1197)agC>agT	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							139.0	127.0	131.0					3																	14200186		1568	3582	5150	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200186G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1197C>T	3.37:g.14200186G>A						XPC_ENST00000449060.2_Silent_p.S362S	p.S399S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			9	1411	-			399					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.1197C>T	CCDS46763.1																																																																																				0.597	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		52	71	0	0	0	1	0	52	71				
NOX1	27035	broad.mit.edu	37	X	100104859	100104859	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100104859G>A	ENST00000372966.3	-	10	1403	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.L363L|NOX1_ENST00000217885.5_Silent_p.L400L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	400	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCTCCAACCAGCACAGCCACT	0.478																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1198-1200)Ctg>Ttg		NADPH oxidase 1							72.0	62.0	65.0					X																	100104859		2203	4300	6503	SO:0001819	synonymous_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100104859G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1198C>T	X.37:g.100104859G>A						NOX1_ENST00000217885.5_Silent_p.L400L|NOX1_ENST00000372960.4_Silent_p.L363L|NOX1_ENST00000372964.1_Intron	p.L400L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			10	1403	-			400			Interaction with NOXO1.		A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	c.1198C>T	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589671	0.13812	.	.	ENSG00000007952	ENST00000427768	.	.	.	3.6	-0.382	0.12481	.	.	.	.	.	T	0.45013	0.1321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	4.2552	0.10714	0.3519:0.0:0.4738:0.1743	.	.	.	.	V	84	.	.	A	-	2	0	NOX1	99991515	1.000000	0.71417	0.761000	0.31378	0.995000	0.86356	2.529000	0.45632	-0.210000	0.10140	0.513000	0.50165	GCT		0.478	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		4	35	0	0	0	1	0	4	35				
FBXL19	54620	broad.mit.edu	37	16	30939842	30939842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30939842C>A	ENST00000380310.2	+	6	900	c.742C>A	c.(742-744)Ctc>Atc	p.L248I	FBXL19_ENST00000562319.1_Missense_Mutation_p.L228I|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000338343.4_Missense_Mutation_p.L228I|FBXL19_ENST00000471231.2_5'UTR	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	248	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCCTGCCTCCTCCGAGGATC	0.642																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(682-684)Ctc>Atc		F-box and leucine-rich repeat protein 19							24.0	27.0	26.0					16																	30939842		1900	4120	6020	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30939842C>A	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.742C>A	16.37:g.30939842C>A	ENSP00000369666:p.Leu248Ile					FBXL19_ENST00000380310.2_Missense_Mutation_p.L248I|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Missense_Mutation_p.L228I	p.L228I			Q6PCT2	FXL19_HUMAN			6	1069	+			248			Pro-rich.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.682C>A	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	c	12.18	1.861812	0.32884	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.22134	1.97;2.29	5.03	5.03	0.67393	.	0.452292	0.17297	U	0.179404	T	0.24736	0.0600	N	0.08118	0	0.25580	N	0.986802	P	0.46578	0.88	P	0.62184	0.899	T	0.19679	-1.0298	10	0.38643	T	0.18	-14.4912	13.8779	0.63665	0.0:1.0:0.0:0.0	.	248	Q6PCT2	FXL19_HUMAN	I	228;248	ENSP00000339712:L228I;ENSP00000369666:L248I	ENSP00000339712:L228I	L	+	1	0	FBXL19	30847343	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.701000	0.47094	2.344000	0.79699	0.479000	0.44913	CTC		0.642	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		4	28	1	0	0.150653	1	0.152692	4	28				
IL6ST	3572	broad.mit.edu	37	5	55265611	55265611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55265611G>A	ENST00000381298.2	-	4	449	c.137C>T	c.(136-138)gCa>gTa	p.A46V	IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Missense_Mutation_p.A46V|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.A46V|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.A46V|IL6ST_ENST00000336909.5_Missense_Mutation_p.A46V|IL6ST_ENST00000381294.3_Missense_Mutation_p.A46V|IL6ST_ENST00000522633.2_Missense_Mutation_p.A46V|IL6ST_ENST00000502326.3_Missense_Mutation_p.A46V	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	46	Ig-like C2-type.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CACACAAACTGCAGTGAAATT	0.308			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(136-138)gCa>gTa		interleukin 6 signal transducer (gp130, oncostatin M receptor)							80.0	81.0	81.0					5																	55265611		2203	4297	6500	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55265611G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.137C>T	5.37:g.55265611G>A	ENSP00000370698:p.Ala46Val					IL6ST_ENST00000336909.5_Missense_Mutation_p.A46V|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.A46V|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.A46V|IL6ST_ENST00000502326.3_Missense_Mutation_p.A46V|IL6ST_ENST00000381294.3_Missense_Mutation_p.A46V|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000522633.2_Missense_Mutation_p.A46V|IL6ST_ENST00000381293.2_Missense_Mutation_p.A46V	p.A46V	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			4	449	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	46			Ig-like C2-type.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.137C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848100	0.91277	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;D;T	0.91996	-1.26;-1.26;-1.26;-1.26;-1.26;-2.95;-1.26	5.86	5.86	0.93980	Fibronectin, type III (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.097876	0.64402	D	0.000001	D	0.94798	0.8320	M	0.71036	2.16	0.80722	D	1	B;D;D;D	0.89917	0.363;1.0;1.0;1.0	B;D;D;D	0.97110	0.24;1.0;1.0;0.995	D	0.91072	0.4893	10	0.02654	T	1	.	18.3544	0.90352	0.0:0.0:1.0:0.0	.	46;46;46;46	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	V	46	ENSP00000370698:A46V;ENSP00000338799:A46V;ENSP00000370694:A46V;ENSP00000370687:A46V;ENSP00000444456:A46V;ENSP00000370693:A46V;ENSP00000435399:A46V	ENSP00000338799:A46V	A	-	2	0	IL6ST	55301368	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.737000	0.74816	2.774000	0.95407	0.585000	0.79938	GCA		0.308	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		27	48	0	0	0	1	0	27	48				
PLD3	23646	broad.mit.edu	37	19	40876110	40876110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40876110G>A	ENST00000409587.1	+	8	1041	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PLD3_ENST00000356508.5_Missense_Mutation_p.G215D|PLD3_ENST00000409281.1_Missense_Mutation_p.G215D|PLD3_ENST00000409419.1_Missense_Mutation_p.G215D|PLD3_ENST00000409735.4_Missense_Mutation_p.G215D			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	215	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TTCTACCTGGGCAGTGCCAAC	0.622																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(643-645)gGc>gAc		phospholipase D family, member 3							108.0	88.0	95.0					19																	40876110		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40876110G>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.644G>A	19.37:g.40876110G>A	ENSP00000387050:p.Gly215Asp					PLD3_ENST00000409735.4_Missense_Mutation_p.G215D|PLD3_ENST00000356508.5_Missense_Mutation_p.G215D|PLD3_ENST00000409281.1_Missense_Mutation_p.G215D|PLD3_ENST00000409419.1_Missense_Mutation_p.G215D	p.G215D			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		8	1041	+			215			PLD phosphodiesterase 1.		Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.644G>A	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192292	0.94960	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.61	5.61	0.85477	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95800	0.8832	10	0.72032	D	0.01	-16.3732	17.1228	0.86706	0.0:0.0:1.0:0.0	.	215	Q8IV08	PLD3_HUMAN	D	215;215;215;196;215;215	ENSP00000386293:G215D;ENSP00000387050:G215D;ENSP00000348901:G215D;ENSP00000386938:G215D;ENSP00000387022:G215D	ENSP00000348901:G215D	G	+	2	0	PLD3	45567950	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.606000	0.98325	2.633000	0.89246	0.655000	0.94253	GGC		0.622	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		5	34	0	0	0	1	0	5	34				
TRIM28	10155	broad.mit.edu	37	19	59057241	59057241	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59057241G>A	ENST00000253024.5	+	3	853	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TRIM28_ENST00000341753.6_Intron|RN7SL525P_ENST00000579267.1_RNA	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	188	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGTACACCAAGGACCATACTG	0.557																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(562-564)aaG>aaA		tripartite motif containing 28							87.0	80.0	82.0					19																	59057241		2203	4299	6502	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59057241G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.564G>A	19.37:g.59057241G>A						TRIM28_ENST00000341753.6_Intron	p.K188K	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	853	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	188			RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.564G>A	CCDS12985.1																																																																																				0.557	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		15	46	0	0	0	1	0	15	46				
SLC44A5	204962	broad.mit.edu	37	1	75699770	75699770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75699770C>T	ENST00000370855.5	-	12	867	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	SLC44A5_ENST00000370859.3_Missense_Mutation_p.A252T|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A122T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	252					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGACCATGGCAATCGTCAGG	0.388																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(754-756)Gcc>Acc		solute carrier family 44, member 5							101.0	100.0	100.0					1																	75699770		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75699770C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.754G>A	1.37:g.75699770C>T	ENSP00000359892:p.Ala252Thr					SLC44A5_ENST00000370859.3_Missense_Mutation_p.A252T|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A122T	p.A252T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			12	867	-			252					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.754G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484137	0.44147	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.23552	2.5;2.49;1.9	5.28	3.37	0.38596	.	0.219465	0.47455	D	0.000233	T	0.25568	0.0622	M	0.68952	2.095	0.42004	D	0.990904	B;P;B;P;B	0.44659	0.172;0.571;0.172;0.84;0.264	B;B;B;P;B	0.53224	0.222;0.222;0.222;0.721;0.396	T	0.02444	-1.1158	10	0.52906	T	0.07	-7.0524	9.5312	0.39196	0.1422:0.7815:0.0:0.0763	.	246;291;252;252;291	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	252;291;252;122;245	ENSP00000359896:A252T;ENSP00000359892:A252T;ENSP00000443090:A122T	ENSP00000359892:A252T	A	-	1	0	SLC44A5	75472358	0.995000	0.38212	0.402000	0.26371	0.027000	0.11550	3.270000	0.51600	0.680000	0.31366	0.655000	0.94253	GCC		0.388	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		28	40	0	0	0	1	0	28	40				
SMARCA5	8467	broad.mit.edu	37	4	144465101	144465101	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144465101A>T	ENST00000283131.3	+	16	2610	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	716					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACTTCGAAGGAGAAGACTATA	0.333																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2146-2148)ggA>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							60.0	64.0	63.0					4																	144465101		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144465101A>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2148A>T	4.37:g.144465101A>T							p.G716G	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			16	2610	+	all_hematologic(180;0.158)		716						Silent	SNP	ENST00000283131.3	37	c.2148A>T	CCDS3761.1																																																																																				0.333	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			10	79	0	0	0	1	0	10	79				
PHLPP2	23035	broad.mit.edu	37	16	71686719	71686719	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71686719T>C	ENST00000568954.1	-	18	3169	c.2791A>G	c.(2791-2793)Aag>Gag	p.K931E	PHLPP2_ENST00000540628.1_Missense_Mutation_p.K141E|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Missense_Mutation_p.K966E|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000360429.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000393524.2_Missense_Mutation_p.K864E			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	931	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTTTGGTCCTTCACCCTTTGA	0.572																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2590-2592)Aag>Gag		PH domain and leucine rich repeat protein phosphatase 2							132.0	104.0	113.0					16																	71686719		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71686719T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2791A>G	16.37:g.71686719T>C	ENSP00000457991:p.Lys931Glu					PHLPP2_ENST00000567016.1_Missense_Mutation_p.K966E|PHLPP2_ENST00000360429.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000540628.1_Missense_Mutation_p.K141E|PHLPP2_ENST00000568954.1_Missense_Mutation_p.K931E	p.K864E			Q6ZVD8	PHLP2_HUMAN			16	3323	-			931			PP2C-like.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2590A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505936	0.85282	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.41	5.41	0.78517	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	N	0.13140	0.3	0.46149	D	0.998893	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.09465	-1.0673	10	0.51188	T	0.08	-23.5144	14.6343	0.68678	0.0:0.0:0.0:1.0	.	864;931	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	E	141;738;931;931;864	ENSP00000445781:K141E;ENSP00000353610:K931E;ENSP00000348611:K931E;ENSP00000377159:K864E	ENSP00000299971:K738E	K	-	1	0	PHLPP2	70244220	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.046000	0.64226	2.042000	0.60477	0.533000	0.62120	AAG		0.572	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		4	68	0	0	0	1	0	4	68				
TCEANC	170082	broad.mit.edu	37	X	13681173	13681173	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13681173C>T	ENST00000380600.1	+	2	633	c.546C>T	c.(544-546)taC>taT	p.Y182Y	TCEANC_ENST00000545566.1_Silent_p.Y182Y|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000314720.4_Silent_p.Y212Y|TCEANC_ENST00000544987.1_Silent_p.Y182Y			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	182	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCTTCTTTACGCAGCTTTAA	0.423																																						ENST00000380600.1																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						c.(544-546)taC>taT		transcription elongation factor A (SII) N-terminal and central domain containing							114.0	105.0	108.0					X																	13681173		1908	4117	6025	SO:0001819	synonymous_variant	170082				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:13681173C>T		CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.546C>T	X.37:g.13681173C>T						TCEANC_ENST00000314720.4_Silent_p.Y212Y|TCEANC_ENST00000544987.1_Silent_p.Y182Y|TCEANC_ENST00000545566.1_Silent_p.Y182Y|TCEANC_ENST00000490617.1_3'UTR	p.Y182Y			Q8N8B7	TEANC_HUMAN			2	633	+			182			TFIIS central.		A6NI06|B2RDM3	Silent	SNP	ENST00000380600.1	37	c.546C>T																																																																																					0.423	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		16	131	0	0	0	1	0	16	131				
SGIP1	84251	broad.mit.edu	37	1	67137651	67137651	+	Missense_Mutation	SNP	G	G	A	rs373835742		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67137651G>A	ENST00000371037.4	+	11	610	c.533G>A	c.(532-534)cGt>cAt	p.R178H	AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Missense_Mutation_p.R135H|SGIP1_ENST00000237247.6_Missense_Mutation_p.R182H|SGIP1_ENST00000371039.1_Missense_Mutation_p.R146H|SGIP1_ENST00000371036.3_Missense_Mutation_p.R145H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	178	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGACCCAGGCGTTCCACACCA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20665	0.0		0.0	False		,,,				2504	0.0					ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(532-534)cGt>cAt		SH3-domain GRB2-like (endophilin) interacting protein 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	113.0	115.0		533	5.5	1.0	1		115	0,8600		0,0,4300	no	missense	SGIP1	NM_032291.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	178/829	67137651	1,13005	2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67137651G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.533G>A	1.37:g.67137651G>A	ENSP00000360076:p.Arg178His					SGIP1_ENST00000371035.3_Missense_Mutation_p.R135H|SGIP1_ENST00000371036.3_Missense_Mutation_p.R145H|SGIP1_ENST00000371039.1_Missense_Mutation_p.R146H|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.R182H|SGIP1_ENST00000468286.1_3'UTR	p.R178H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			11	610	+			178			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.533G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404400	0.83230	2.27E-4	0.0	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94;3.94	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.03871	0.0109	L	0.61218	1.895	0.47276	D	0.999371	P	0.43633	0.813	B	0.39904	0.313	T	0.46665	-0.9175	10	0.45353	T	0.12	-8.8631	19.4593	0.94910	0.0:0.0:1.0:0.0	.	178	Q9BQI5	SGIP1_HUMAN	H	182;146;170;135;181;181;145;178	ENSP00000237247:R182H;ENSP00000360078:R146H;ENSP00000410439:R170H;ENSP00000360074:R135H;ENSP00000360075:R145H;ENSP00000360076:R178H	ENSP00000237247:R182H	R	+	2	0	SGIP1	66910239	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.773000	0.85462	2.601000	0.87937	0.563000	0.77884	CGT		0.378	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		15	14	0	0	0	1	0	15	14				
FSIP2	401024	broad.mit.edu	37	2	186673090	186673090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:186673090G>A	ENST00000424728.1	+	17	19057	c.19057G>A	c.(19057-19059)Gcc>Acc	p.A6353T	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6442T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6353										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGGTGTTGGCCTTGTTCTT	0.338																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19324-19326)Gcc>Acc		fibrous sheath interacting protein 2							24.0	23.0	23.0					2																	186673090		1802	4007	5809	SO:0001583	missense	401024							g.chr2:186673090G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19057G>A	2.37:g.186673090G>A	ENSP00000401306:p.Ala6353Thr					FSIP2_ENST00000424728.1_Missense_Mutation_p.A6353T	p.A6442T	NM_173651.2	NP_775922.2					17	19324	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.19324G>A		.	.	.	.	.	.	.	.	.	.	G	16.79	3.219685	0.58560	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.62232	0.04;0.04	5.31	5.31	0.75309	.	0.000000	0.53938	D	0.000055	T	0.68118	0.2966	L	0.49778	1.585	0.35344	D	0.786718	.	.	.	.	.	.	T	0.75980	-0.3126	8	0.56958	D	0.05	.	14.3431	0.66641	0.0:0.0:1.0:0.0	.	.	.	.	T	6442;6353	ENSP00000344403:A6442T;ENSP00000401306:A6353T	ENSP00000344403:A6442T	A	+	1	0	FSIP2	186381335	0.986000	0.35501	0.924000	0.36721	0.480000	0.33159	3.211000	0.51137	2.758000	0.94735	0.591000	0.81541	GCC		0.338	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		9	28	0	0	0	1	0	9	28				
WWC1	23286	broad.mit.edu	37	5	167836972	167836972	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167836972C>T	ENST00000265293.4	+	8	1415	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	WWC1_ENST00000521089.1_Missense_Mutation_p.R305C	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	305					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTCAGATTGCGCCTTCGATA	0.483																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(913-915)Cgc>Tgc		WW and C2 domain containing 1							122.0	112.0	115.0					5																	167836972		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167836972C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.913C>T	5.37:g.167836972C>T	ENSP00000265293:p.Arg305Cys					WWC1_ENST00000521089.1_Missense_Mutation_p.R305C	p.R305C	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	8	1415	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	305					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.913C>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.080575|4.080575	0.76528|0.76528	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089	.|T;T	.|0.05925	.|3.37;3.37	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.059828	.|0.64402	.|D	.|0.000002	T|T	0.17195|0.17195	0.0413|0.0413	L|L	0.47190|0.47190	1.495|1.495	0.51482|0.51482	D|D	0.999928|0.999928	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.999	.|P;P;P;P	.|0.62184	.|0.899;0.851;0.851;0.732	T|T	0.00140|0.00140	-1.2000|-1.2000	5|10	.|0.87932	.|D	.|0	.|.	15.1328|15.1328	0.72539|0.72539	0.1417:0.8583:0.0:0.0|0.1417:0.8583:0.0:0.0	.|.	.|305;211;211;305	.|Q8IX03-2;F5H498;B3KX05;Q8IX03	.|.;.;.;KIBRA_HUMAN	V|C	266;81|305	.|ENSP00000265293:R305C;ENSP00000427772:R305C	.|ENSP00000265293:R305C	A|R	+|+	2|1	0|0	WWC1|WWC1	167769550|167769550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.807000|4.807000	0.62576|0.62576	2.409000|2.409000	0.81822|0.81822	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.483	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		23	34	0	0	0	1	0	23	34				
MAGEB18	286514	broad.mit.edu	37	X	26158034	26158034	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26158034A>G	ENST00000325250.1	+	2	1119	c.932A>G	c.(931-933)gAa>gGa	p.E311G		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	311	Interaction with LNX1.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGGGATGAGGAACAGAGAACC	0.512																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(931-933)gAa>gGa		melanoma antigen family B, 18							58.0	35.0	43.0					X																	26158034		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26158034A>G	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.932A>G	X.37:g.26158034A>G	ENSP00000314543:p.Glu311Gly						p.E311G	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	1119	+			311						Missense_Mutation	SNP	ENST00000325250.1	37	c.932A>G	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072932	0.36566	.	.	ENSG00000176774	ENST00000325250	T	0.02446	4.29	4.45	3.28	0.37604	.	0.501251	0.19324	N	0.117056	T	0.15955	0.0384	M	0.92268	3.29	0.30775	N	0.742561	D	0.76494	0.999	D	0.71656	0.974	T	0.06409	-1.0828	10	0.59425	D	0.04	.	5.7798	0.18299	0.8813:0.0:0.1187:0.0	.	311	Q96M61	MAGBI_HUMAN	G	311	ENSP00000314543:E311G	ENSP00000314543:E311G	E	+	2	0	MAGEB18	26067955	1.000000	0.71417	0.983000	0.44433	0.183000	0.23260	1.896000	0.39789	0.832000	0.34804	0.486000	0.48141	GAA		0.512	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		4	13	0	0	0	1	0	4	13				
CSNK2A3	283106	broad.mit.edu	37	11	11374418	11374418	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11374418C>A	ENST00000528848.2	-	1	486	c.249G>T	c.(247-249)aaG>aaT	p.K83N	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										TCTCCAAAATCTTTATTTCAC	0.373																																						ENST00000528848.2																			0											c.(247-249)aaG>aaT		casein kinase 2, alpha 3 polypeptide																																				SO:0001583	missense	283106							g.chr11:11374418C>A	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.249G>T	11.37:g.11374418C>A	ENSP00000473553:p.Lys83Asn					RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	p.K83N	NM_001256686.1	NP_001243615.1					1	486	-									Missense_Mutation	SNP	ENST00000528848.2	37	c.249G>T	CCDS59224.1																																																																																				0.373	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		51	90	1	0	7.59065e-32	1	1.01804e-31	51	90				
AMER1	139285	broad.mit.edu	37	X	63410130	63410130	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410130G>T	ENST00000330258.3	-	2	3309	c.3037C>A	c.(3037-3039)Cct>Act	p.P1013T	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1013	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GATTCCCCAGGTGCCCTTGAC	0.567																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(3037-3039)Cct>Act		APC membrane recruitment protein 1							53.0	60.0	57.0					X																	63410130		2123	4202	6325	SO:0001583	missense	139285							g.chrX:63410130G>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3037C>A	X.37:g.63410130G>T	ENSP00000329117:p.Pro1013Thr					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.P1013T	NM_152424.3	NP_689637.3					2	3309	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.3037C>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	2.530	-0.308691	0.05458	.	.	ENSG00000184675	ENST00000330258	T	0.49139	0.79	4.93	-3.84	0.04256	.	.	.	.	.	T	0.28300	0.0699	L	0.27053	0.805	0.09310	N	1	B	0.19331	0.035	B	0.17433	0.018	T	0.21143	-1.0254	8	.	.	.	1.5391	7.8142	0.29249	0.5956:0.2318:0.1726:0.0	.	1013	Q5JTC6	F123B_HUMAN	T	1013	ENSP00000329117:P1013T	.	P	-	1	0	FAM123B	63326855	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.271000	0.08572	-0.968000	0.03578	-0.297000	0.09499	CCT		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		14	17	1	0	1.05317e-09	1	1.28483e-09	14	17				
VEZT	55591	broad.mit.edu	37	12	95676134	95676134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95676134C>T	ENST00000436874.1	+	8	1147	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	VEZT_ENST00000261219.6_Missense_Mutation_p.R300W|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTCTTCAGACGGTTAGCCCT	0.408																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1042-1044)Cgg>Tgg		vezatin, adherens junctions transmembrane protein							79.0	75.0	76.0					12																	95676134		1918	4136	6054	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95676134C>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1042C>T	12.37:g.95676134C>T	ENSP00000410083:p.Arg348Trp					VEZT_ENST00000261219.6_Missense_Mutation_p.R300W|VEZT_ENST00000356859.4_3'UTR	p.R348W	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			8	1147	+			348					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.1042C>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480245	0.84747	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.57436	0.4;0.4;0.4	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	M	0.68952	2.095	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.72918	-0.4146	10	0.87932	D	0	-28.934	14.8753	0.70491	0.2536:0.7464:0.0:0.0	.	348	Q9HBM0	VEZA_HUMAN	W	348;300;304;348	ENSP00000410083:R348W;ENSP00000261219:R300W;ENSP00000380894:R304W	ENSP00000261219:R300W	R	+	1	2	VEZT	94200265	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	3.756000	0.55205	2.680000	0.91292	0.561000	0.74099	CGG		0.408	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		15	46	0	0	0	1	0	15	46				
CDC42BPB	9578	broad.mit.edu	37	14	103465943	103465943	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103465943C>T	ENST00000361246.2	-	5	843	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAATGGCCAGCACCATTTCAC	0.428																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(553-555)gtG>gtA		CDC42 binding protein kinase beta (DMPK-like)							139.0	123.0	128.0					14																	103465943		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103465943C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.555G>A	14.37:g.103465943C>T							p.V185V	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	5	843	-		Melanoma(154;0.155)	185			Protein kinase.			Silent	SNP	ENST00000361246.2	37	c.555G>A	CCDS9978.1																																																																																				0.428	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		34	44	0	0	0	1	0	34	44				
MYO10	4651	broad.mit.edu	37	5	16671615	16671615	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16671615C>A	ENST00000513610.1	-	38	5800	c.5346G>T	c.(5344-5346)tgG>tgT	p.W1782C	MYO10_ENST00000515803.1_Missense_Mutation_p.W1121C|MYO10_ENST00000427430.2_Missense_Mutation_p.W1139C|MYO10_ENST00000274203.9_Missense_Mutation_p.W1139C|MYO10_ENST00000505695.1_Missense_Mutation_p.W1121C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1782	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTAGAATTTCCATGGCAGGT	0.483																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5344-5346)tgG>tgT		myosin X							67.0	67.0	67.0					5																	16671615		1900	4122	6022	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16671615C>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5346G>T	5.37:g.16671615C>A	ENSP00000421280:p.Trp1782Cys					MYO10_ENST00000505695.1_Missense_Mutation_p.W1121C|MYO10_ENST00000515803.1_Missense_Mutation_p.W1121C|MYO10_ENST00000274203.9_Missense_Mutation_p.W1139C|MYO10_ENST00000427430.2_Missense_Mutation_p.W1139C	p.W1782C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			38	5800	-			1782			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5346G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743777	0.89663	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88586	-2.28;-2.4;-2.32;-2.4;-2.32	5.73	5.73	0.89815	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94958	0.8369	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.94364	0.7590	9	0.56958	D	0.05	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	661;1422;1782	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	C	1782;1121;1139;1121;1139	ENSP00000421280:W1782C;ENSP00000425051:W1121C;ENSP00000274203:W1139C;ENSP00000421170:W1121C;ENSP00000391106:W1139C	ENSP00000274203:W1139C	W	-	3	0	MYO10	16724615	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.872000	0.69636	2.861000	0.98227	0.655000	0.94253	TGG		0.483	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		13	25	1	0	4.3838e-07	1	5.12524e-07	13	25				
MAPK8IP3	23162	broad.mit.edu	37	16	1812999	1812999	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1812999C>A	ENST00000250894.4	+	16	2044	c.1887C>A	c.(1885-1887)ttC>ttA	p.F629L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.F623L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	629					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAATTCTTCCCTGACGAGT	0.652																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1885-1887)ttC>ttA		mitogen-activated protein kinase 8 interacting protein 3							42.0	50.0	47.0					16																	1812999		1941	4145	6086	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1812999C>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1887C>A	16.37:g.1812999C>A	ENSP00000250894:p.Phe629Leu					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.F623L	p.F629L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			16	2044	+			629					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1887C>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	c	2.738	-0.262817	0.05754	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.24908	1.83;1.83	5.04	3.1	0.35709	.	0.213448	0.49916	D	0.000130	T	0.10165	0.0249	N	0.05199	-0.095	0.54753	D	0.999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.0;0.001;0.004	T	0.20907	-1.0261	10	0.02654	T	1	-24.8127	11.1524	0.48466	0.0:0.8477:0.0:0.1523	.	630;623;629	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	629;623	ENSP00000250894:F629L;ENSP00000348290:F623L	ENSP00000250894:F629L	F	+	3	2	MAPK8IP3	1753000	1.000000	0.71417	0.997000	0.53966	0.637000	0.38172	2.370000	0.44240	0.547000	0.28938	-0.215000	0.12644	TTC		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		5	45	1	0	1	1	1	5	45				
SLA2	84174	broad.mit.edu	37	20	35262913	35262913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35262913C>T	ENST00000262866.4	-	3	593	c.171G>A	c.(169-171)gaG>gaA	p.E57E	SLA2_ENST00000360672.2_Silent_p.E57E	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	57	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGGTCAATGGCTCCCCGAGTC	0.582																																					Ovarian(59;720 1165 26994 46188 51693)	ENST00000262866.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(169-171)gaG>gaA		Src-like-adaptor 2							63.0	54.0	57.0					20																	35262913		2203	4300	6503	SO:0001819	synonymous_variant	84174				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity	g.chr20:35262913C>T	AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"""SH2 domain containing"""	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.171G>A	20.37:g.35262913C>T						SLA2_ENST00000360672.2_Silent_p.E57E	p.E57E	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN			3	593	-	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	57			SH3.		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Silent	SNP	ENST00000262866.4	37	c.171G>A	CCDS13282.1																																																																																				0.582	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		7	19	0	0	0	1	0	7	19				
MAP3K4	4216	broad.mit.edu	37	6	161508878	161508878	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508878G>A	ENST00000392142.4	+	10	2863	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	MAP3K4_ENST00000366919.2_Silent_p.K905K|MAP3K4_ENST00000366920.2_Silent_p.K905K|MAP3K4_ENST00000348824.7_Silent_p.K905K	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	905					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCTGACCAAGCACGGTGATC	0.507																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2713-2715)aaG>aaA		mitogen-activated protein kinase kinase kinase 4							142.0	115.0	124.0					6																	161508878		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161508878G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2715G>A	6.37:g.161508878G>A						MAP3K4_ENST00000366919.2_Silent_p.K905K|MAP3K4_ENST00000348824.7_Silent_p.K905K|MAP3K4_ENST00000366920.2_Silent_p.K905K	p.K905K	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	10	2863	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	905					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.2715G>A	CCDS34565.1																																																																																				0.507	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			4	50	0	0	0	1	0	4	50				
SZT2	23334	broad.mit.edu	37	1	43902861	43902861	+	Missense_Mutation	SNP	C	C	A	rs138657693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43902861C>A	ENST00000562955.1	+	42	5883	c.5883C>A	c.(5881-5883)agC>agA	p.S1961R	SZT2_ENST00000372442.1_Missense_Mutation_p.S1119R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2018					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGATGAGAGCTGTGCGCCCC	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(5881-5883)agC>agA		seizure threshold 2 homolog (mouse)							116.0	113.0	114.0					1																	43902861		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43902861C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5883C>A	1.37:g.43902861C>A	ENSP00000457168:p.Ser1961Arg					SZT2_ENST00000372442.1_Missense_Mutation_p.S1119R	p.S1961R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			42	5883	+			2018					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5883C>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270561	0.59540	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.86	4.95	0.65309	.	0.042110	0.85682	D	0.000000	T	0.55000	0.1893	L	0.46157	1.445	0.28231	N	0.926099	P	0.49783	0.928	P	0.53760	0.734	T	0.54781	-0.8242	9	0.56958	D	0.05	.	15.1458	0.72650	0.0:0.9323:0.0:0.0677	.	1961	Q5T011-5	.	R	1119	.	ENSP00000361519:S1119R	S	+	3	2	SZT2	43675448	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.908000	0.56355	1.483000	0.48342	0.655000	0.94253	AGC		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		41	64	1	0	1.7489e-18	1	2.28119e-18	41	64				
TAS2R30	259293	broad.mit.edu	37	12	11286804	11286804	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11286804C>A	ENST00000539585.1	-	1	439	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	14					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATATAACCACTATTAGAATG	0.328																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(40-42)Gtg>Ttg		taste receptor, type 2, member 30							35.0	33.0	34.0					12																	11286804		1835	4100	5935	SO:0001583	missense	259293							g.chr12:11286804C>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.40G>T	12.37:g.11286804C>A	ENSP00000444736:p.Val14Leu					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.V14L	NM_001097643.1	NP_001091112.1					1	439	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.40G>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	4.596	0.110698	0.08780	.	.	ENSG00000256188	ENST00000539585	T	0.32023	1.47	3.32	-1.29	0.09288	.	.	.	.	.	T	0.16471	0.0396	L	0.31476	0.935	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28170	-1.0052	9	0.41790	T	0.15	.	0.3692	0.00376	0.2184:0.1451:0.2231:0.4135	.	14	P59541	T2R30_HUMAN	L	14	ENSP00000444736:V14L	ENSP00000444736:V14L	V	-	1	0	TAS2R30	11178071	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.550000	0.06034	-0.067000	0.12976	0.305000	0.20034	GTG		0.328	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		10	20	1	0	5.50884e-06	1	6.28354e-06	10	20				
MARCH10	162333	broad.mit.edu	37	17	60879033	60879033	+	Nonsense_Mutation	SNP	G	G	A	rs569311413	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60879033G>A	ENST00000311269.5	-	2	338	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	MARCH10_ENST00000583600.1_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000544856.2_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.Q22*	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	22					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACCTTATGCTGCATGTCCCGC	0.438																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(64-66)Cag>Tag		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							198.0	152.0	167.0					17																	60879033		2203	4300	6503	SO:0001587	stop_gained	162333						ligase activity|zinc ion binding	g.chr17:60879033G>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.64C>T	17.37:g.60879033G>A	ENSP00000311496:p.Gln22*					MARCH10_ENST00000311269.5_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.Q22*	p.Q22*			Q8NA82	MARHA_HUMAN			3	442	-			22					D3DU09|Q8IYS7|Q8N7Z7	Nonsense_Mutation	SNP	ENST00000311269.5	37	c.64C>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	39	7.324157	0.98210	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	.	.	.	5.59	5.59	0.84812	.	0.000000	0.39475	N	0.001354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.9272	15.0967	0.72242	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000311496:Q22X	Q	-	1	0	MARCH10	58232765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.008000	0.63991	2.622000	0.88805	0.561000	0.74099	CAG		0.438	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		61	79	0	0	0	1	0	61	79				
DCHS1	8642	broad.mit.edu	37	11	6640080	6640080	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640080G>A	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_3'UTR|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_Silent_p.A52A|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_Intron	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTCTCAGGGCAAAGGTGA	0.607																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(154-156)gcC>gcT		tripeptidyl peptidase I							80.0	72.0	75.0					11																	6640080		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640080G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640080G>A						TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR	p.A52A	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	216	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	52					O15098	Silent	SNP	ENST00000299441.3	37	c.156C>T	CCDS7771.1																																																																																				0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		32	54	0	0	0	1	0	32	54				
USP31	57478	broad.mit.edu	37	16	23113642	23113642	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23113642C>A	ENST00000219689.7	-	6	1231	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCCCTTACCTCTTTGACTGAG	0.383																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(1231-1233)aGa>aTa		ubiquitin specific peptidase 31							68.0	65.0	66.0					16																	23113642		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23113642C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1232G>T	16.37:g.23113642C>A	ENSP00000219689:p.Arg411Ile						p.R411I	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	6	1231	-			411					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1232G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111357	0.94339	.	.	ENSG00000103404	ENST00000219689	T	0.09723	2.95	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.980746	0.08306	N	0.966105	T	0.40372	0.1114	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01814	-1.1268	10	0.30854	T	0.27	-9.9085	18.4906	0.90846	0.0:1.0:0.0:0.0	.	411	Q70CQ4	UBP31_HUMAN	I	411	ENSP00000219689:R411I	ENSP00000219689:R411I	R	-	2	0	USP31	23021143	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.458000	0.80787	2.607000	0.88179	0.655000	0.94253	AGA		0.383	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		4	46	1	0	0.00024832	1	0.0002712	4	46				
SLC6A2	6530	broad.mit.edu	37	16	55732428	55732428	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55732428C>A	ENST00000379906.2	+	10	1692	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	SLC6A2_ENST00000414754.3_Silent_p.T479T|SLC6A2_ENST00000566163.1_Silent_p.T434T|SLC6A2_ENST00000219833.8_Silent_p.T479T|SLC6A2_ENST00000561820.1_Silent_p.T479T|SLC6A2_ENST00000568943.1_Silent_p.T479T|SLC6A2_ENST00000567238.1_Silent_p.T374T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	479					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTGCGGGCACCTCCATCCTTT	0.532																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1435-1437)acC>acA		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						171.0	144.0	153.0					16																	55732428		2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55732428C>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1437C>A	16.37:g.55732428C>A						SLC6A2_ENST00000219833.8_Silent_p.T479T|SLC6A2_ENST00000567238.1_Silent_p.T374T|SLC6A2_ENST00000566163.1_Silent_p.T434T|SLC6A2_ENST00000561820.1_Silent_p.T479T|SLC6A2_ENST00000568943.1_Silent_p.T479T|SLC6A2_ENST00000414754.3_Silent_p.T479T	p.T479T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	10	1692	+			479					B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.1437C>A	CCDS10754.1																																																																																				0.532	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			6	77	1	0	0.000157383	1	0.00017284	6	77				
SLC44A2	57153	broad.mit.edu	37	19	10746140	10746140	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10746140G>T	ENST00000335757.5	+	14	1558	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	SLC44A2_ENST00000407327.4_Missense_Mutation_p.K392N|SLC44A2_ENST00000586078.1_Missense_Mutation_p.K394N			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	394					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGTCTATAAGATCTTTGATG	0.572																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1180-1182)aaG>aaT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						137.0	143.0	141.0					19																	10746140		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10746140G>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1182G>T	19.37:g.10746140G>T	ENSP00000336888:p.Lys394Asn					SLC44A2_ENST00000407327.4_Missense_Mutation_p.K392N|SLC44A2_ENST00000335757.5_Missense_Mutation_p.K394N	p.K394N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		14	1291	+			394					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.1182G>T	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211224	0.58343	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.23348	1.91;1.91	4.31	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.83483	2.645	0.45464	D	0.99843	D;D;D	0.58970	0.98;0.984;0.98	D;D;D	0.67548	0.93;0.937;0.952	T	0.48175	-0.9058	10	0.66056	D	0.02	.	7.7844	0.29083	0.1968:0.0:0.8032:0.0	.	394;394;392	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	N	392;394;394	ENSP00000385135:K392N;ENSP00000336888:K394N	ENSP00000336888:K394N	K	+	3	2	SLC44A2	10607140	1.000000	0.71417	0.976000	0.42696	0.836000	0.47400	2.254000	0.43214	1.017000	0.39495	0.455000	0.32223	AAG		0.572	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			18	86	1	0	1.33834e-09	1	1.62941e-09	18	86				
SEMA4D	10507	broad.mit.edu	37	9	92003880	92003880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:92003880C>T	ENST00000450295.1	-	10	1633	c.857G>A	c.(856-858)aGc>aAc	p.S286N	SEMA4D_ENST00000339861.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S286N|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S286N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GACCAAGCCGCTGTCTGGCCG	0.582																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(856-858)aGc>aAc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							153.0	160.0	158.0					9																	92003880		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92003880C>T	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.857G>A	9.37:g.92003880C>T	ENSP00000416523:p.Ser286Asn					SEMA4D_ENST00000422704.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S286N|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S286N	p.S286N			Q92854	SEM4D_HUMAN			10	1633	-			286			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.857G>A	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	3.401	-0.122345	0.06795	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	4.96	2.0	0.26442	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.433820	0.29053	N	0.013296	T	0.17662	0.0424	L	0.37561	1.115	0.29620	N	0.84627	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.11348	-1.0591	10	0.20046	T	0.44	.	3.2418	0.06783	0.1838:0.4601:0.0:0.3561	.	286;286	Q92854-2;Q92854	.;SEM4D_HUMAN	N	286	ENSP00000344923:S286N;ENSP00000391733:S286N;ENSP00000411981:S286N;ENSP00000343418:S286N;ENSP00000416523:S286N;ENSP00000405102:S286N;ENSP00000348822:S286N;ENSP00000388768:S286N	ENSP00000344923:S286N	S	-	2	0	SEMA4D	91193700	1.000000	0.71417	0.099000	0.21106	0.312000	0.27988	1.838000	0.39211	0.646000	0.30693	0.561000	0.74099	AGC		0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		20	185	0	0	0	1	0	20	185				
SLC22A18	5002	broad.mit.edu	37	11	2937892	2937892	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2937892C>A	ENST00000380574.1	+	6	1008	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	SLC22A18_ENST00000347936.2_Missense_Mutation_p.L193M|SLC22A18_ENST00000449793.2_Missense_Mutation_p.L95M|SLC22A18_ENST00000312221.5_Missense_Mutation_p.L193M			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	193					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCACCCTCCTGGGAGCTGT	0.697																																						ENST00000380574.1																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(577-579)Ctg>Atg		solute carrier family 22, member 18							45.0	47.0	46.0					11																	2937892		2202	4299	6501	SO:0001583	missense	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2937892C>A	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.577C>A	11.37:g.2937892C>A	ENSP00000369948:p.Leu193Met					SLC22A18_ENST00000347936.2_Missense_Mutation_p.L193M|SLC22A18_ENST00000312221.5_Missense_Mutation_p.L193M|SLC22A18_ENST00000449793.2_Missense_Mutation_p.L95M	p.L193M			Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	6	1008	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	193					O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	c.577C>A	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	c	7.379	0.628389	0.14257	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;D;T	0.83506	0.06;0.06;-1.73;0.06	3.77	1.84	0.25277	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.392722	0.23217	N	0.050609	T	0.76335	0.3973	L	0.43152	1.355	0.28855	N	0.895847	B;P	0.44946	0.363;0.846	B;P	0.44897	0.087;0.463	T	0.68996	-0.5262	10	0.45353	T	0.12	-2.4428	6.8911	0.24230	0.1915:0.5981:0.2103:0.0	.	95;193	E9PRM7;Q96BI1	.;S22AI_HUMAN	M	193;193;95;193	ENSP00000307859:L193M;ENSP00000311139:L193M;ENSP00000392072:L95M;ENSP00000369948:L193M	ENSP00000311139:L193M	L	+	1	2	SLC22A18	2894468	0.146000	0.22672	0.965000	0.40720	0.080000	0.17528	-0.052000	0.11865	0.339000	0.23719	-0.323000	0.08544	CTG		0.697	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		19	31	1	0	0.00121646	1	0.00129943	19	31				
CCDC88A	55704	broad.mit.edu	37	2	55566748	55566748	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55566748A>G	ENST00000436346.1	-	13	2211	c.1370T>C	c.(1369-1371)tTg>tCg	p.L457S	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L457S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L457S|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L457S|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	457					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACTTGATGTCAACTCATTCAC	0.363																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1369-1371)tTg>tCg		coiled-coil domain containing 88A							89.0	88.0	88.0					2																	55566748		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55566748A>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1370T>C	2.37:g.55566748A>G	ENSP00000410608:p.Leu457Ser					CCDC88A_ENST00000336838.6_Missense_Mutation_p.L457S|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L457S|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L457S|AC012358.8_ENST00000600219.1_RNA	p.L457S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			13	2211	-			457					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.1370T>C		.	.	.	.	.	.	.	.	.	.	A	12.71	2.018530	0.35606	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	4.96	4.96	0.65561	.	0.000000	0.35151	U	0.003418	T	0.14485	0.0350	L	0.33485	1.01	0.80722	D	1	B;P;P	0.38827	0.001;0.649;0.642	B;B;B	0.40506	0.004;0.26;0.331	T	0.04678	-1.0934	10	0.09338	T	0.73	-4.328	14.6628	0.68885	1.0:0.0:0.0:0.0	.	457;457;457	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	S	457	ENSP00000338728:L457S;ENSP00000263630:L457S;ENSP00000410608:L457S;ENSP00000404431:L457S	ENSP00000263630:L457S	L	-	2	0	CCDC88A	55420252	0.577000	0.26708	0.980000	0.43619	0.973000	0.67179	4.729000	0.62008	1.867000	0.54127	0.477000	0.44152	TTG		0.363	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		19	25	0	0	0	1	0	19	25				
ABCC3	8714	broad.mit.edu	37	17	48750833	48750833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48750833C>T	ENST00000285238.8	+	19	2493	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	805	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCCCCAGACGCGAGTGCTGGT	0.612																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2413-2415)Cga>Tga		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						95.0	78.0	84.0					17																	48750833		2203	4300	6503	SO:0001587	stop_gained	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48750833C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2413C>T	17.37:g.48750833C>T	ENSP00000285238:p.Arg805*						p.R805*	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		19	2493	+			805			ABC transporter 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Nonsense_Mutation	SNP	ENST00000285238.8	37	c.2413C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	38	7.161512	0.98103	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.5101	13.7516	0.62910	0.1541:0.8459:0.0:0.0	.	.	.	.	X	805	.	ENSP00000285238:R805X	R	+	1	2	ABCC3	46105832	0.989000	0.36119	0.963000	0.40424	0.466000	0.32739	2.839000	0.48207	2.616000	0.88540	0.561000	0.74099	CGA		0.612	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		25	36	0	0	0	1	0	25	36				
PPIG	9360	broad.mit.edu	37	2	170471162	170471162	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170471162A>G	ENST00000260970.3	+	9	695	c.475A>G	c.(475-477)Aca>Gca	p.T159A	PPIG_ENST00000409714.3_Missense_Mutation_p.T144A|PPIG_ENST00000448752.2_Missense_Mutation_p.T159A|PPIG_ENST00000462903.1_Missense_Mutation_p.T159A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	159	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAACCAGAAAACAGATGCAGC	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(475-477)Aca>Gca		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						118.0	125.0	122.0					2																	170471162		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170471162A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.475A>G	2.37:g.170471162A>G	ENSP00000260970:p.Thr159Ala					PPIG_ENST00000409714.3_Missense_Mutation_p.T144A|PPIG_ENST00000462903.1_Missense_Mutation_p.T159A|PPIG_ENST00000448752.2_Missense_Mutation_p.T159A	p.T159A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			9	695	+			159			PPIase cyclophilin-type.		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.475A>G	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060509	0.76074	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.58	5.58	0.84498	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.87971	2.92	0.80722	D	1	D;D;D;B;D	0.76494	0.999;0.994;0.994;0.374;0.981	D;D;D;B;P	0.77004	0.989;0.983;0.983;0.24;0.839	T	0.78748	-0.2083	10	0.87932	D	0	-9.4254	15.75	0.77976	1.0:0.0:0.0:0.0	.	155;144;144;159;159	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	A	159;159;155;144;159;159;159	ENSP00000260970:T159A;ENSP00000408683:T155A;ENSP00000386245:T144A;ENSP00000435987:T159A;ENSP00000407083:T159A;ENSP00000402222:T159A	ENSP00000260970:T159A	T	+	1	0	PPIG	170179408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.118000	0.64928	0.402000	0.26972	ACA		0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			57	64	0	0	0	1	0	57	64				
ZNF573	126231	broad.mit.edu	37	19	38230584	38230584	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38230584A>G	ENST00000590414.2	-	4	828	c.807T>C	c.(805-807)acT>acC	p.T269T	ZNF573_ENST00000339503.4_Silent_p.T211T|ZNF573_ENST00000357309.3_Silent_p.T181T|ZNF573_ENST00000392138.1_Silent_p.T182T|ZNF573_ENST00000536220.1_Silent_p.T181T			Q86YE8	ZN573_HUMAN	zinc finger protein 573	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTTTTTCGCCAGTATGAACTC	0.428																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(631-633)acT>acC		zinc finger protein 573							114.0	110.0	112.0					19																	38230584		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230584A>G	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.807T>C	19.37:g.38230584A>G						ZNF573_ENST00000357309.3_Silent_p.T181T|ZNF573_ENST00000392138.1_Silent_p.T182T|ZNF573_ENST00000536220.1_Silent_p.T181T|ZNF573_ENST00000590414.2_Silent_p.T269T	p.T211T	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1134	-			249					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.633T>C	CCDS59381.1																																																																																				0.428	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		15	116	0	0	0	1	0	15	116				
TTC23	64927	broad.mit.edu	37	15	99696369	99696369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99696369C>T	ENST00000394132.2	-	12	1944	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	AC022819.3_ENST00000563495.1_RNA|TTC23_ENST00000262074.4_Missense_Mutation_p.R376H|TTC23_ENST00000558613.1_Missense_Mutation_p.R376H|TTC23_ENST00000394135.3_Missense_Mutation_p.R376H|TTC23_ENST00000558663.1_Missense_Mutation_p.R376H|TTC23_ENST00000394130.1_Missense_Mutation_p.R376H|TTC23_ENST00000394129.2_Missense_Mutation_p.R376H|TTC23_ENST00000394136.1_Missense_Mutation_p.R376H			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	376										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGTTTCTTGCGGGCCCCACT	0.557																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(1126-1128)cGc>cAc		tetratricopeptide repeat domain 23							120.0	117.0	118.0					15																	99696369		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99696369C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1127G>A	15.37:g.99696369C>T	ENSP00000377690:p.Arg376His					TTC23_ENST00000558613.1_Missense_Mutation_p.R376H|TTC23_ENST00000394130.1_Missense_Mutation_p.R376H|TTC23_ENST00000394136.1_Missense_Mutation_p.R376H|TTC23_ENST00000394129.2_Missense_Mutation_p.R376H|TTC23_ENST00000558663.1_Missense_Mutation_p.R376H|TTC23_ENST00000394135.3_Missense_Mutation_p.R376H|TTC23_ENST00000262074.4_Missense_Mutation_p.R376H	p.R376H			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		12	1944	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		376					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.1127G>A	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	T	7.890	0.732129	0.15507	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	D;D;D;D;T;T	0.94497	-3.44;-3.44;-3.44;-3.44;-0.08;1.13	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.186685	0.46442	N	0.000282	T	0.75510	0.3859	N	0.00170	-1.935	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.67209	-0.5728	10	0.14656	T	0.56	-6.7548	8.4871	0.33078	0.0:0.088:0.0:0.912	.	376;376	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	H	376	ENSP00000377690:R376H;ENSP00000377693:R376H;ENSP00000262074:R376H;ENSP00000377692:R376H;ENSP00000377688:R376H;ENSP00000457901:R376H	ENSP00000262074:R376H	R	-	2	0	TTC23	97513892	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	2.196000	0.42686	0.955000	0.37878	-0.360000	0.07572	CGC		0.557	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		17	36	0	0	0	1	0	17	36				
TXNDC16	57544	broad.mit.edu	37	14	52922112	52922112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922112C>T	ENST00000281741.4	-	18	2143	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	591					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAGTGGGATGCTCTCTATTTT	0.403																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1771-1773)aGc>aAc		thioredoxin domain containing 16							227.0	188.0	201.0					14																	52922112		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52922112C>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1772G>A	14.37:g.52922112C>T	ENSP00000281741:p.Ser591Asn					TXNDC16_ENST00000554399.1_Intron	p.S591N	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			18	2143	-	Breast(41;0.0716)		591					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1772G>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765408	0.49574	.	.	ENSG00000087301	ENST00000281741	T	0.31247	1.5	4.86	3.93	0.45458	.	0.296026	0.42548	D	0.000697	T	0.44498	0.1296	M	0.65975	2.015	0.30673	N	0.753162	D;D	0.58620	0.979;0.983	P;P	0.59761	0.815;0.863	T	0.45293	-0.9271	10	0.14252	T	0.57	-19.8737	12.1332	0.53955	0.0:0.8266:0.1734:0.0	.	586;591	B7ZME4;Q9P2K2	.;TXD16_HUMAN	N	591	ENSP00000281741:S591N	ENSP00000281741:S591N	S	-	2	0	TXNDC16	51991862	1.000000	0.71417	0.967000	0.41034	0.332000	0.28634	1.705000	0.37867	1.106000	0.41623	0.563000	0.77884	AGC		0.403	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		32	32	0	0	0	1	0	32	32				
GP2	2813	broad.mit.edu	37	16	20337663	20337663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20337663G>A	ENST00000381362.4	-	2	167	c.91C>T	c.(91-93)Cga>Tga	p.R31*	GP2_ENST00000302555.5_Nonsense_Mutation_p.R31*|GP2_ENST00000341642.5_Nonsense_Mutation_p.R31*|GP2_ENST00000381360.5_Nonsense_Mutation_p.R31*|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	31					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TACTTACCTCGCTGCACTGCA	0.537																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(91-93)Cga>Tga		glycoprotein 2 (zymogen granule membrane)							73.0	67.0	69.0					16																	20337663		2203	4300	6503	SO:0001587	stop_gained	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20337663G>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.91C>T	16.37:g.20337663G>A	ENSP00000370767:p.Arg31*					GP2_ENST00000381362.4_Nonsense_Mutation_p.R31*|GP2_ENST00000341642.5_Nonsense_Mutation_p.R31*|GP2_ENST00000381360.5_Nonsense_Mutation_p.R31*	p.R31*			P55259	GP2_HUMAN			2	240	-			31					A6NFM9|A6NJA8|Q13338|Q9UIF1	Nonsense_Mutation	SNP	ENST00000381362.4	37	c.91C>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486647	0.63962	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	4.76	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	9.7657	0.40559	0.0:0.0:0.7946:0.2054	.	.	.	.	X	31;31;31;31;156	.	ENSP00000304044:R31X	R	-	1	2	GP2	20245164	0.993000	0.37304	0.809000	0.32408	0.025000	0.11179	1.032000	0.30178	2.633000	0.89246	0.655000	0.94253	CGA		0.537	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		4	64	0	0	0	1	0	4	64				
NCDN	23154	broad.mit.edu	37	1	36028080	36028080	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028080C>T	ENST00000373243.2	+	4	1614	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	NCDN_ENST00000373253.3_Missense_Mutation_p.R394C|NCDN_ENST00000356090.4_Missense_Mutation_p.R411C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	411					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.R394C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCATCCTTGCGTAAGGAGGT	0.622																																						ENST00000373243.2																			1	Substitution - Missense(1)	p.R394C(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1231-1233)Cgt>Tgt		neurochondrin							149.0	126.0	134.0					1																	36028080		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028080C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1231C>T	1.37:g.36028080C>T	ENSP00000362340:p.Arg411Cys					NCDN_ENST00000356090.4_Missense_Mutation_p.R411C|NCDN_ENST00000373253.3_Missense_Mutation_p.R394C	p.R411C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			4	1614	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	411					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1231C>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325098	0.81580	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	T;T;T	0.73789	-0.78;-0.78;-0.78	4.8	4.8	0.61643	.	0.206493	0.40064	N	0.001197	T	0.74129	0.3676	L	0.29908	0.895	0.54753	D	0.99998	D	0.76494	0.999	P	0.58928	0.848	T	0.76493	-0.2939	10	0.87932	D	0	.	10.5618	0.45150	0.2069:0.7931:0.0:0.0	.	411	Q9UBB6	NCDN_HUMAN	C	394;411;411	ENSP00000362350:R394C;ENSP00000348394:R411C;ENSP00000362340:R411C	ENSP00000348394:R411C	R	+	1	0	NCDN	35800667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.545000	0.67237	2.503000	0.84419	0.561000	0.74099	CGT		0.622	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		22	33	0	0	0	1	0	22	33				
COPB1	1315	broad.mit.edu	37	11	14490987	14490987	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14490987C>G	ENST00000249923.3	-	15	2160	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	COPB1_ENST00000439561.2_Missense_Mutation_p.L620F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	620					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AACATTCAGACAAGACCTTGA	0.398																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1858-1860)ttG>ttC		coatomer protein complex, subunit beta 1							153.0	143.0	146.0					11																	14490987		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14490987C>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1860G>C	11.37:g.14490987C>G	ENSP00000249923:p.Leu620Phe					COPB1_ENST00000439561.2_Missense_Mutation_p.L620F	p.L620F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2160	-			620					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1860G>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633138	0.67015	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.19806	2.12;2.12	5.91	-0.899	0.10547	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	T	0.13072	-1.0523	10	0.52906	T	0.07	-15.4952	7.0092	0.24853	0.0:0.4663:0.1083:0.4255	.	620	P53618	COPB_HUMAN	F	620	ENSP00000249923:L620F;ENSP00000397873:L620F	ENSP00000249923:L620F	L	-	3	2	COPB1	14447563	0.973000	0.33851	0.978000	0.43139	0.994000	0.84299	0.206000	0.17375	-0.445000	0.07159	-0.345000	0.07892	TTG		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		19	122	0	0	0	1	0	19	122				
ACTN2	88	broad.mit.edu	37	1	236881218	236881218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236881218G>A	ENST00000366578.4	+	2	353	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E63K|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	63	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGAGAACATCGAGGAAGACTT	0.468																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(187-189)Gag>Aag		actinin, alpha 2							168.0	146.0	154.0					1																	236881218		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236881218G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.187G>A	1.37:g.236881218G>A	ENSP00000355537:p.Glu63Lys					ACTN2_ENST00000542672.1_Missense_Mutation_p.E63K|ACTN2_ENST00000492634.1_3'UTR	p.E63K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		2	353	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	63			Actin-binding.|CH 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.187G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481483	0.96307	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.60299	0.2;0.2	5.61	5.61	0.85477	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.66378	2.025	0.80722	D	1	P;P	0.42973	0.528;0.796	B;B	0.40864	0.342;0.293	T	0.66681	-0.5862	10	0.66056	D	0.02	.	18.4129	0.90558	0.0:0.0:1.0:0.0	.	63;63	B2RCS5;P35609	.;ACTN2_HUMAN	K	63	ENSP00000443495:E63K;ENSP00000355537:E63K	ENSP00000355537:E63K	E	+	1	0	ACTN2	234947841	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.597000	0.98273	2.655000	0.90218	0.650000	0.86243	GAG		0.468	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		9	13	0	0	0	1	0	9	13				
SETD3	84193	broad.mit.edu	37	14	99865307	99865307	+	Silent	SNP	C	C	T	rs571335100	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99865307C>T	ENST00000331768.5	-	13	1653	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	498					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTGGGAAGCGGAGCCTTTT	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		19210	0.0		0.0	False		,,,				2504	0.002					ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1492-1494)ccG>ccA		SET domain containing 3							136.0	136.0	136.0					14																	99865307		2203	4300	6503	SO:0001819	synonymous_variant	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865307C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1494G>A	14.37:g.99865307C>T							p.P498P	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			13	1653	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	498					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	ENST00000331768.5	37	c.1494G>A	CCDS9951.1																																																																																				0.517	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		38	92	0	0	0	1	0	38	92				
RFPL3	10738	broad.mit.edu	37	22	32754246	32754246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32754246G>A	ENST00000249007.4	+	1	393	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Missense_Mutation_p.C34Y|RFPL3_ENST00000382088.3_Missense_Mutation_p.C34Y	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	63							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCCTCAAGTGCATCAATTCG	0.532																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(187-189)tGc>tAc		ret finger protein-like 3							121.0	115.0	117.0					22																	32754246		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32754246G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.188G>A	22.37:g.32754246G>A	ENSP00000249007:p.Cys63Tyr					RFPL3_ENST00000382088.3_Missense_Mutation_p.C34Y|RFPL3_ENST00000397468.1_Missense_Mutation_p.C34Y	p.C63Y	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	393	+			63					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.188G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379523	0.24944	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.54866	0.55;0.55;0.55	0.851	-0.32	0.12721	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.76637	0.4015	H	0.97240	3.965	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62402	-0.6862	9	0.72032	D	0.01	.	3.2426	0.06786	0.3309:0.0:0.6691:0.0	.	63	O75679	RFPL3_HUMAN	Y	34;63;34	ENSP00000380609:C34Y;ENSP00000249007:C63Y;ENSP00000371520:C34Y	ENSP00000249007:C63Y	C	+	2	0	RFPL3	31084246	1.000000	0.71417	0.001000	0.08648	0.056000	0.15407	3.976000	0.56867	-0.074000	0.12820	0.194000	0.17425	TGC		0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		28	51	0	0	0	1	0	28	51				
USP35	57558	broad.mit.edu	37	11	77918633	77918633	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77918633G>T	ENST00000529308.1	+	8	1710	c.1449G>T	c.(1447-1449)aaG>aaT	p.K483N	USP35_ENST00000526425.1_Missense_Mutation_p.K214N|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_Missense_Mutation_p.K69N|USP35_ENST00000530267.1_Missense_Mutation_p.K51N	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	483	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGATGACCAAGCTGCAGTGGC	0.587																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1447-1449)aaG>aaT		ubiquitin specific peptidase 35							106.0	103.0	104.0					11																	77918633		2014	4178	6192	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77918633G>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1449G>T	11.37:g.77918633G>T	ENSP00000431876:p.Lys483Asn					USP35_ENST00000526425.1_Missense_Mutation_p.K214N|USP35_ENST00000441408.2_Missense_Mutation_p.K69N|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.K51N	p.K483N	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		8	1710	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		483						Missense_Mutation	SNP	ENST00000529308.1	37	c.1449G>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690812	0.48097	.	.	ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.83	2.96	0.34315	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.215862	0.31507	N	0.007536	T	0.35189	0.0923	L	0.41710	1.295	0.34201	D	0.673134	D;D	0.58620	0.967;0.983	P;P	0.54759	0.76;0.759	T	0.48080	-0.9066	10	0.46703	T	0.11	-36.9164	10.1332	0.42691	0.2255:0.0:0.7745:0.0	.	483;69	Q9P2H5;E7EWV7	UBP35_HUMAN;.	N	51;239;483;69;214	ENSP00000435468:K51N;ENSP00000436001:K239N;ENSP00000431876:K483N;ENSP00000400825:K69N;ENSP00000434942:K214N	ENSP00000400825:K69N	K	+	3	2	USP35	77596281	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.414000	0.34736	0.639000	0.30564	0.591000	0.81541	AAG		0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		10	88	1	0	0.0581538	1	0.0593651	10	88				
CDH23	64072	broad.mit.edu	37	10	73571499	73571499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571499C>T	ENST00000224721.6	+	64	9328	c.9323C>T	c.(9322-9324)gCt>gTt	p.A3108V	CDH23_ENST00000398788.3_Missense_Mutation_p.A863V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3103					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCATTGTGGCTGGCTCAGCT	0.647																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9322-9324)gCt>gTt		cadherin-related 23							19.0	22.0	21.0					10																	73571499		1984	4145	6129	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73571499C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9323C>T	10.37:g.73571499C>T	ENSP00000224721:p.Ala3108Val					CDH23_ENST00000398788.3_Missense_Mutation_p.A863V|CDH23_ENST00000475158.1_3'UTR	p.A3108V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			64	9328	+			3103					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9323C>T		.	.	.	.	.	.	.	.	.	.	C	19.22	3.786212	0.70337	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.61158	0.13	5.68	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.46614	1.455	0.58432	D	0.999999	P;P	0.34562	0.457;0.457	B;B	0.24848	0.056;0.056	T	0.56300	-0.8002	10	0.66056	D	0.02	.	15.2381	0.73447	0.0:0.8595:0.1405:0.0	.	3103;3103	E9PEX1;Q9H251	.;CAD23_HUMAN	V	3108;3103;3106;863	ENSP00000381768:A863V	ENSP00000224721:A3108V	A	+	2	0	CDH23	73241505	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.206000	0.77891	2.696000	0.92011	0.555000	0.69702	GCT		0.647	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		2	2	0	0	0	1	0	2	2				
ZC3H4	23211	broad.mit.edu	37	19	47572495	47572495	+	Missense_Mutation	SNP	C	C	T	rs372785889		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572495C>T	ENST00000253048.5	-	14	2289	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	751							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2251-2253)cGg>cAg		zinc finger CCCH-type containing 4		C	GLN/ARG	0,3818		0,0,1909	25.0	30.0	29.0		2252	4.1	1.0	19		29	2,8208		0,2,4103	no	missense	ZC3H4	NM_015168.1	43	0,2,6012	TT,TC,CC		0.0244,0.0,0.0166	possibly-damaging	751/1304	47572495	2,12026	1909	4105	6014	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47572495C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2252G>A	19.37:g.47572495C>T	ENSP00000253048:p.Arg751Gln					ZC3H4_ENST00000594019.1_Intron	p.R751Q	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2289	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	751					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2252G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938571	0.52972	0.0	2.44E-4	ENSG00000130749	ENST00000253048	T	0.17213	2.29	5.17	4.11	0.48088	.	1.018400	0.07859	N	0.965990	T	0.13713	0.0332	L	0.36672	1.1	0.25865	N	0.983773	P	0.44006	0.824	B	0.35688	0.208	T	0.13442	-1.0509	10	0.28530	T	0.3	.	10.2217	0.43201	0.1528:0.6994:0.1478:0.0	.	751	Q9UPT8	ZC3H4_HUMAN	Q	751	ENSP00000253048:R751Q	ENSP00000253048:R751Q	R	-	2	0	ZC3H4	52264335	0.994000	0.37717	1.000000	0.80357	0.936000	0.57629	1.015000	0.29963	1.361000	0.45981	0.591000	0.81541	CGG		0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			18	16	0	0	0	1	0	18	16				
ASAP1	50807	broad.mit.edu	37	8	131124478	131124478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131124478C>A	ENST00000518721.1	-	24	2490	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	ASAP1_ENST00000357668.1_Nonsense_Mutation_p.G755*	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	755					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGCTGAATCCTGGCAGTGCC	0.572																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2263-2265)Gga>Tga		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							151.0	139.0	143.0					8																	131124478		2203	4300	6503	SO:0001587	stop_gained	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131124478C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2263G>T	8.37:g.131124478C>A	ENSP00000429900:p.Gly755*					ASAP1_ENST00000518721.1_Nonsense_Mutation_p.G755*	p.G755*			Q9ULH1	ASAP1_HUMAN			23	2290	-			755					B2RNV3	Nonsense_Mutation	SNP	ENST00000518721.1	37	c.2263G>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.754952|10.754952	0.99461|0.99461	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.478520|.	0.24419|.	N|.	0.038696|.	.|T	.|0.72011	.|0.3408	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72097	.|-0.4393	.|3	0.33940|.	T|.	0.23|.	.|.	15.7786|15.7786	0.78243|0.78243	0.1365:0.8635:0.0:0.0|0.1365:0.8635:0.0:0.0	.|.	.|.	.|.	.|.	X|M	758;755;755|575;168	.|.	ENSP00000344591:G758X|.	G|R	-|-	1|2	0|0	ASAP1|ASAP1	131193660|131193660	0.995000|0.995000	0.38212|0.38212	0.625000|0.625000	0.29200|0.29200	0.981000|0.981000	0.71138|0.71138	3.661000|3.661000	0.54503|0.54503	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.572	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		7	73	1	0	0.00198382	1	0.00210581	7	73				
MYB	4602	broad.mit.edu	37	6	135518458	135518458	+	Intron	SNP	G	G	A	rs55983257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135518458G>A	ENST00000367814.4	+	9	1389				MYB_ENST00000533624.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000534121.1_Silent_p.S505S|MYB_ENST00000442647.2_Intron|MYB_ENST00000341911.5_Silent_p.S521S|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Silent_p.S518S|MYB_ENST00000527615.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000534044.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTCCCTCGCAGGTAGAAC	0.453			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1561-1563)tcG>tcA		v-myb avian myeloblastosis viral oncogene homolog		G	,,,,,,,	0,3136		0,0,1568	63.0	61.0	62.0		,1563,1554,,1515,,,	1.7	1.0	6	dbSNP_129	62	1,7163		0,1,3581	no	intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron,intron	MYB	NM_001130172.1,NM_001130173.1,NM_001161656.1,NM_001161657.1,NM_001161658.1,NM_001161659.1,NM_001161660.1,NM_005375.2	,,,,,,,	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	,,,,,,,	,521/762,518/759,,505/746,,,	135518458	1,10299	1568	3582	5150	SO:0001627	intron_variant	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135518458G>A		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1318G>A	6.37:g.135518458G>A						MYB_ENST00000442647.2_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000534121.1_Silent_p.S505S|MYB_ENST00000533624.1_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000528774.1_Silent_p.S518S	p.S521S	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	10	1762	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	468					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Silent	SNP	ENST00000367814.4	37	c.1563G>A	CCDS5174.1																																																																																				0.453	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			22	29	0	0	0	1	0	22	29				
PSMA4	5685	broad.mit.edu	37	15	78834894	78834894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78834894C>T	ENST00000044462.7	+	4	266	c.116C>T	c.(115-117)gCa>gTa	p.A39V	PSMA4_ENST00000559082.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558281.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558341.1_Missense_Mutation_p.A39V|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558094.1_5'Flank	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGAATTTTAGCAAATGATGGT	0.393																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(115-117)gCa>gTa		proteasome (prosome, macropain) subunit, alpha type, 4							189.0	190.0	190.0					15																	78834894		2196	4293	6489	SO:0001583	missense	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78834894C>T	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.116C>T	15.37:g.78834894C>T	ENSP00000044462:p.Ala39Val					PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558341.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558281.1_Missense_Mutation_p.A39V	p.A39V	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			4	266	+			39					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	c.116C>T	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	C	36	5.963446	0.97151	.	.	ENSG00000041357	ENST00000044462	T	0.22539	1.95	5.71	5.71	0.89125	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.79926	2.475	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.50709	-0.8796	10	0.72032	D	0.01	-22.2469	18.0362	0.89303	0.0:1.0:0.0:0.0	.	39	P25789	PSA4_HUMAN	V	39	ENSP00000044462:A39V	ENSP00000044462:A39V	A	+	2	0	PSMA4	76621949	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	7.508000	0.81686	2.707000	0.92482	0.655000	0.94253	GCA		0.393	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		69	124	0	0	0	1	0	69	124				
HNRNPUL2	221092	broad.mit.edu	37	11	62491095	62491095	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62491095G>A	ENST00000301785.5	-	4	1047	c.855C>T	c.(853-855)taC>taT	p.Y285Y	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.Y285Y	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	285	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTCACTCCGTAAGTACTCC	0.463																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(853-855)taC>taT		heterogeneous nuclear ribonucleoprotein U-like 2							71.0	68.0	69.0					11																	62491095		1905	4109	6014	SO:0001819	synonymous_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62491095G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.855C>T	11.37:g.62491095G>A						RP11-831H9.16_ENST00000403734.2_Silent_p.Y285Y	p.Y285Y	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			4	1047	-			285			B30.2/SPRY.		Q8N3B3	Silent	SNP	ENST00000301785.5	37	c.855C>T	CCDS41659.1																																																																																				0.463	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		17	19	0	0	0	1	0	17	19				
MYH10	4628	broad.mit.edu	37	17	8508150	8508150	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8508150G>T	ENST00000269243.4	-	3	634	c.496C>A	c.(496-498)Ctt>Att	p.L166I	MYH10_ENST00000360416.3_Missense_Mutation_p.L166I|MYH10_ENST00000396239.1_Missense_Mutation_p.L166I|MYH10_ENST00000379980.4_Missense_Mutation_p.L166I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	166	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTACCTTGAAGCATGCATCTG	0.303																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(496-498)Ctt>Att		myosin, heavy chain 10, non-muscle							92.0	93.0	93.0					17																	8508150		2203	4299	6502	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8508150G>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.496C>A	17.37:g.8508150G>T	ENSP00000269243:p.Leu166Ile					MYH10_ENST00000269243.4_Missense_Mutation_p.L166I|MYH10_ENST00000396239.1_Missense_Mutation_p.L166I|MYH10_ENST00000379980.4_Missense_Mutation_p.L166I	p.L166I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			3	634	-			166			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.496C>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550293	0.86127	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	T;T;D;T;T	0.95821	-0.74;-0.74;-3.82;-0.74;-0.74	5.09	5.09	0.68999	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96134	0.8740	M	0.72118	2.19	0.80722	D	1	B;P;B	0.44816	0.044;0.844;0.044	P;P;P	0.51999	0.681;0.687;0.681	D	0.96189	0.9136	10	0.87932	D	0	.	13.0228	0.58799	0.077:0.0:0.923:0.0	.	166;166;166	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	I	166	ENSP00000269243:L166I;ENSP00000353590:L166I;ENSP00000379539:L166I;ENSP00000369315:L166I;ENSP00000408220:L166I	ENSP00000269243:L166I	L	-	1	0	MYH10	8448875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.472000	0.60189	2.627000	0.88993	0.563000	0.77884	CTT		0.303	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			20	71	1	0	2.21704e-12	1	2.7869e-12	20	71				
ELMOD1	55531	broad.mit.edu	37	11	107463069	107463069	+	Intron	SNP	G	G	T	rs368718719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107463069G>T	ENST00000265840.7	+	1	180				ELMOD1_ENST00000443271.2_Intron|AP000889.3_ENST00000600612.1_Missense_Mutation_p.Q89H|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000531234.1_Intron	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTAACCCCCAGTGGGCCGTAG	0.478																																						ENST00000600612.1																			0											c.(265-267)caG>caT									84.0	82.0	83.0					11																	107463069		1913	4129	6042	SO:0001627	intron_variant	0							g.chr11:107463069G>T	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+934G>T	11.37:g.107463069G>T						ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000531234.1_Intron	p.Q89H							2	280	+								B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.267G>T	CCDS44723.1																																																																																				0.478	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		17	21	1	0	3.41278e-10	1	4.19267e-10	17	21				
DNMT1	1786	broad.mit.edu	37	19	10265644	10265644	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265644A>G	ENST00000340748.4	-	19	1768	c.1533T>C	c.(1531-1533)atT>atC	p.I511I	DNMT1_ENST00000359526.4_Silent_p.I527I|DNMT1_ENST00000540357.1_Silent_p.I511I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	511	DNA replication foci-targeting sequence. {ECO:0000250}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ACTCCACCACAATCTTGCTGA	0.512																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1531-1533)atT>atC		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						128.0	106.0	114.0					19																	10265644		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10265644A>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1533T>C	19.37:g.10265644A>G						DNMT1_ENST00000540357.1_Silent_p.I511I|DNMT1_ENST00000359526.4_Silent_p.I527I	p.I511I			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		19	1768	-			511			DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.1533T>C	CCDS12228.1																																																																																				0.512	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		34	43	0	0	0	1	0	34	43				
PDK3	5165	broad.mit.edu	37	X	24512864	24512864	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24512864G>T	ENST00000379162.4	+	2	347	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000441463.2_Missense_Mutation_p.D38Y	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	38					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATAGGGAGAGATAATGCATG	0.388																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(112-114)Gat>Tat		pyruvate dehydrogenase kinase, isozyme 3							76.0	69.0	71.0					X																	24512864		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24512864G>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.112G>T	X.37:g.24512864G>T	ENSP00000368460:p.Asp38Tyr					PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.D38Y	p.D38Y	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			2	112	+			38					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.112G>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462785	0.63513	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.45668	0.89;1.46	6.16	6.16	0.99307	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.092148	0.64402	D	0.000001	T	0.44456	0.1294	L	0.50333	1.59	0.80722	D	1	B;B	0.25719	0.132;0.079	B;B	0.35607	0.206;0.206	T	0.39643	-0.9604	10	0.59425	D	0.04	.	13.0115	0.58733	0.0747:0.0:0.9253:0.0	.	38;38	B4DXG6;Q15120	.;PDK3_HUMAN	Y	38	ENSP00000368460:D38Y;ENSP00000387536:D38Y	ENSP00000368460:D38Y	D	+	1	0	PDK3	24422785	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.756000	0.68757	2.614000	0.88457	0.594000	0.82650	GAT		0.388	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		5	45	1	0	0.00116845	1	0.00124821	5	45				
SLC2A13	114134	broad.mit.edu	37	12	40258676	40258676	+	Missense_Mutation	SNP	C	C	T	rs372764299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40258676C>T	ENST00000280871.4	-	6	1257	c.1207G>A	c.(1207-1209)Gta>Ata	p.V403I		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	403					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATGAGTGCTACGGTGGTACCT	0.388										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1207-1209)Gta>Ata		solute carrier family 2 (facilitated glucose transporter), member 13		C	ILE/VAL	0,4406		0,0,2203	135.0	120.0	125.0		1207	2.4	0.0	12		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A13	NM_052885.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	403/649	40258676	1,13005	2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40258676C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1207G>A	12.37:g.40258676C>T	ENSP00000280871:p.Val403Ile	HNSCC(50;0.14)					p.V403I	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			6	1257	-		Lung NSC(34;0.105)|all_lung(34;0.123)	403					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1207G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	7.771	0.707369	0.15239	0.0	1.16E-4	ENSG00000151229	ENST00000280871	T	0.58358	0.34	6.17	2.41	0.29592	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.193217	0.43579	N	0.000543	T	0.34279	0.0892	N	0.21142	0.635	0.29179	N	0.87661	B	0.24823	0.112	B	0.25884	0.064	T	0.22034	-1.0228	10	0.14252	T	0.57	-6.5363	10.9424	0.47281	0.0:0.7511:0.0:0.2489	.	403	Q96QE2	MYCT_HUMAN	I	403	ENSP00000280871:V403I	ENSP00000280871:V403I	V	-	1	0	SLC2A13	38544943	0.019000	0.18553	0.011000	0.14972	0.499000	0.33736	0.116000	0.15561	0.191000	0.20236	-0.140000	0.14226	GTA		0.388	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			29	43	0	0	0	1	0	29	43				
SHROOM3	57619	broad.mit.edu	37	4	77700012	77700012	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77700012C>A	ENST00000296043.6	+	11	6626	c.5673C>A	c.(5671-5673)gcC>gcA	p.A1891A	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1891	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGAGGATGCCCGGGAGCTGA	0.537																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5671-5673)gcC>gcA		shroom family member 3							66.0	62.0	63.0					4																	77700012		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700012C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5673C>A	4.37:g.77700012C>A						RP11-359D14.3_ENST00000449007.1_RNA	p.A1891A	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6626	+			1891			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.5673C>A	CCDS3579.2																																																																																				0.537	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		11	33	1	0	0.000673444	1	0.000724755	11	33				
SMARCA5	8467	broad.mit.edu	37	4	144457707	144457707	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144457707T>C	ENST00000283131.3	+	11	1833	c.1371T>C	c.(1369-1371)tgT>tgC	p.C457C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	457					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GAAAATGTTGTAATCATCCAT	0.378																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1369-1371)tgT>tgC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							113.0	107.0	109.0					4																	144457707		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144457707T>C	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1371T>C	4.37:g.144457707T>C							p.C457C	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			11	1833	+	all_hematologic(180;0.158)		457						Silent	SNP	ENST00000283131.3	37	c.1371T>C	CCDS3761.1																																																																																				0.378	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			5	59	0	0	0	1	0	5	59				
SUPT20H	55578	broad.mit.edu	37	13	37622074	37622074	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37622074C>T	ENST00000350612.6	-	4	260		c.e4-1		SUPT20H_ENST00000360252.4_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000542180.1_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site|SUPT20H_ENST00000470359.2_Splice_Site	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)						autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CAATGACATACTAAAAAACAA	0.318																																						ENST00000360252.4																			0											c.e4-1		suppressor of Ty 20 homolog (S. cerevisiae)							99.0	103.0	101.0					13																	37622074		2202	4298	6500	SO:0001630	splice_region_variant	55578							g.chr13:37622074C>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.40-1G>A	13.37:g.37622074C>T						SUPT20H_ENST00000542180.1_Splice_Site|SUPT20H_ENST00000350612.6_Splice_Site|SUPT20H_ENST00000470359.2_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site		NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					4	287	-								E7ER46|Q71RF3|Q9Y6A6	Splice_Site	SNP	ENST00000350612.6	37		CCDS31959.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497693	0.64186	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5208	0.90951	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM48A	36520074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.621000	0.67743	2.541000	0.85698	0.655000	0.94253	.		0.318	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	Intron	16	44	0	0	0	1	0	16	44				
EGLN3	112399	broad.mit.edu	37	14	34419872	34419872	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:34419872G>A	ENST00000250457.3	-	1	415	c.87C>T	c.(85-87)tgC>tgT	p.C29C	EGLN3_ENST00000547327.2_Silent_p.C29C|EGLN3_ENST00000553215.1_Intron	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	29					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGTCCAGGTAGCAGAAGCCCA	0.652																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(85-87)tgC>tgT		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						55.0	62.0	59.0					14																	34419872		2203	4300	6503	SO:0001819	synonymous_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419872G>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.87C>T	14.37:g.34419872G>A						EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000250457.3_Silent_p.C29C	p.C29C			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	415	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		29					Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.87C>T	CCDS9646.1																																																																																				0.652	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			11	27	0	0	0	1	0	11	27				
MPDZ	8777	broad.mit.edu	37	9	13222443	13222443	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13222443T>G	ENST00000319217.7	-	6	783	c.536A>C	c.(535-537)gAt>gCt	p.D179A	MPDZ_ENST00000536827.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381022.2_Missense_Mutation_p.D179A|MPDZ_ENST00000541718.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381015.4_Missense_Mutation_p.D179A|MPDZ_ENST00000447879.1_Missense_Mutation_p.D179A|MPDZ_ENST00000546205.1_Missense_Mutation_p.D179A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	179	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAATCTTCCATCTCTATCAAG	0.388																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(535-537)gAt>gCt		multiple PDZ domain protein							154.0	142.0	145.0					9																	13222443		1859	4108	5967	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13222443T>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.536A>C	9.37:g.13222443T>G	ENSP00000320006:p.Asp179Ala					MPDZ_ENST00000546205.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381015.4_Missense_Mutation_p.D179A|MPDZ_ENST00000541718.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381022.2_Missense_Mutation_p.D179A|MPDZ_ENST00000536827.1_Missense_Mutation_p.D179A|MPDZ_ENST00000447879.1_Missense_Mutation_p.D179A	p.D179A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	6	783	-			179			PDZ 1.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.536A>C		.	.	.	.	.	.	.	.	.	.	T	25.0	4.587484	0.86851	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	6.07	6.07	0.98685	.	0.000000	0.47093	D	0.000248	T	0.50377	0.1612	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50320	-0.8842	10	0.87932	D	0	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	179;179;179	B7ZMI4;O75970-3;O75970-2	.;.;.	A	179	ENSP00000320006:D179A;ENSP00000439807:D179A;ENSP00000370410:D179A;ENSP00000444151:D179A;ENSP00000415208:D179A;ENSP00000370403:D179A;ENSP00000446358:D179A	ENSP00000320006:D179A	D	-	2	0	MPDZ	13212443	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.649000	0.83500	2.330000	0.79161	0.477000	0.44152	GAT		0.388	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		6	102	0	0	0	1	0	6	102				
F8	2157	broad.mit.edu	37	X	154133205	154133205	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133205T>G	ENST00000360256.4	-	16	5667	c.5467A>C	c.(5467-5469)Aaa>Caa	p.K1823Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1823	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACAAAGTTTTTTCTAGGTTCT	0.408																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(5467-5469)Aaa>Caa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						161.0	139.0	146.0					X																	154133205		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154133205T>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5467A>C	X.37:g.154133205T>G	ENSP00000353393:p.Lys1823Gln						p.K1823Q	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			16	5667	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1823			F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5467A>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	0.090	-1.169190	0.01660	.	.	ENSG00000185010	ENST00000360256	D	0.98777	-5.13	5.01	2.5	0.30297	Cupredoxin (2);	1.088870	0.06876	N	0.801611	D	0.94016	0.8083	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	D	0.88218	0.2895	10	0.16896	T	0.51	-0.7318	6.1014	0.20049	0.0:0.0852:0.3087:0.6061	.	1823	P00451	FA8_HUMAN	Q	1823	ENSP00000353393:K1823Q	ENSP00000353393:K1823Q	K	-	1	0	F8	153786399	0.000000	0.05858	0.027000	0.17364	0.154000	0.21943	0.600000	0.24104	0.182000	0.20032	-0.501000	0.04562	AAA		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			10	108	0	0	0	1	0	10	108				
SORBS2	8470	broad.mit.edu	37	4	186536048	186536048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536048G>A	ENST00000284776.7	-	17	3329	c.2820C>T	c.(2818-2820)atC>atT	p.I940I	SORBS2_ENST00000437304.2_Silent_p.I664I|SORBS2_ENST00000448662.2_Silent_p.I501I|SORBS2_ENST00000319471.9_Silent_p.I571I|SORBS2_ENST00000418609.1_Silent_p.I844I|SORBS2_ENST00000355634.5_Silent_p.I1040I|SORBS2_ENST00000431808.1_Silent_p.I940I|SORBS2_ENST00000449407.2_Silent_p.I484I|SORBS2_ENST00000393528.3_Silent_p.I506I|SORBS2_ENST00000498125.1_5'UTR	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	940	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGCTTCTCCGATTTCTCCGG	0.453																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2818-2820)atC>atT		sorbin and SH3 domain containing 2							153.0	164.0	160.0					4																	186536048		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186536048G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2820C>T	4.37:g.186536048G>A						SORBS2_ENST00000418609.1_Silent_p.I844I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Silent_p.I571I|SORBS2_ENST00000284776.7_Silent_p.I940I|SORBS2_ENST00000393528.3_Silent_p.I506I|SORBS2_ENST00000449407.2_Silent_p.I484I|SORBS2_ENST00000355634.5_Silent_p.I1040I|SORBS2_ENST00000437304.2_Silent_p.I664I|SORBS2_ENST00000448662.2_Silent_p.I501I	p.I940I			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	18	3383	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	940			SH3 2.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.2820C>T	CCDS3845.1																																																																																				0.453	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		36	63	0	0	0	1	0	36	63				
LY75	4065	broad.mit.edu	37	2	160750522	160750522	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160750522A>C	ENST00000263636.4	-	3	567	c.540T>G	c.(538-540)caT>caG	p.H180Q	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H180Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H180Q|LY75_ENST00000553424.1_Missense_Mutation_p.H180Q|LY75_ENST00000554112.1_Missense_Mutation_p.H180Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	180	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCAATCATGATGCCAGGTCC	0.443																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(538-540)caT>caG		lymphocyte antigen 75							112.0	107.0	109.0					2																	160750522		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160750522A>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.540T>G	2.37:g.160750522A>C	ENSP00000263636:p.His180Gln					LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H180Q|LY75_ENST00000554112.1_Missense_Mutation_p.H180Q|LY75_ENST00000553424.1_Missense_Mutation_p.H180Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H180Q	p.H180Q	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	3	567	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.540T>G	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.322220	0.60634	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.54	1.89	0.25635	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.221905	0.22703	N	0.056675	T	0.62612	0.2442	M	0.73598	2.24	0.42650	D	0.993447	D;D;D	0.89917	1.0;0.997;0.995	D;D;P	0.71870	0.975;0.966;0.875	T	0.60944	-0.7162	10	0.66056	D	0.02	-9.7021	8.0612	0.30633	0.6577:0.0:0.3423:0.0	.	180;180;180	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Q	180	ENSP00000451511:H180Q;ENSP00000451446:H180Q;ENSP00000263636:H180Q;ENSP00000423463:H180Q;ENSP00000421035:H180Q	ENSP00000423463:H180Q	H	-	3	2	LY75;LY75-CD302	160458768	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.024000	0.41049	0.143000	0.18926	0.455000	0.32223	CAT		0.443	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			7	89	0	0	0	1	0	7	89				
CNPY1	285888	broad.mit.edu	37	7	155301617	155301617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:155301617G>A	ENST00000321736.5	-	2	278	c.116C>T	c.(115-117)tCt>tTt	p.S39F	CNPY1_ENST00000406197.1_Missense_Mutation_p.S39F|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	39										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTAAGCATCAGAATAAAAATA	0.368																																						ENST00000321736.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(115-117)tCt>tTt		canopy FGF signaling regulator 1							65.0	64.0	64.0					7																	155301617		1798	4061	5859	SO:0001583	missense	285888							g.chr7:155301617G>A		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.116C>T	7.37:g.155301617G>A	ENSP00000317439:p.Ser39Phe					CNPY1_ENST00000406197.1_Missense_Mutation_p.S39F	p.S39F	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	278	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	39					A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	c.116C>T	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741235	0.69304	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.38401	1.14;1.14	4.85	4.85	0.62838	.	0.061169	0.64402	D	0.000003	T	0.59335	0.2186	.	.	.	0.33302	D	0.564924	D	0.71674	0.998	D	0.71870	0.975	T	0.72204	-0.4361	9	0.59425	D	0.04	-27.4498	15.1831	0.72975	0.0:0.141:0.859:0.0	.	39	Q3B7I2	CNPY1_HUMAN	F	39	ENSP00000384514:S39F;ENSP00000317439:S39F	ENSP00000317439:S39F	S	-	2	0	CNPY1	154994378	1.000000	0.71417	0.987000	0.45799	0.967000	0.64934	4.491000	0.60326	2.240000	0.73641	0.557000	0.71058	TCT		0.368	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		57	40	0	0	0	1	0	57	40				
SCARB2	950	broad.mit.edu	37	4	77091087	77091087	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77091087A>C	ENST00000264896.2	-	8	1395	c.1046T>G	c.(1045-1047)tTt>tGt	p.F349C	SCARB2_ENST00000452464.2_Missense_Mutation_p.F206C	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	349					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGCAGAAACAAACCTCTCATC	0.398																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1045-1047)tTt>tGt		scavenger receptor class B, member 2							155.0	144.0	148.0					4																	77091087		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77091087A>C	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1046T>G	4.37:g.77091087A>C	ENSP00000264896:p.Phe349Cys					SCARB2_ENST00000452464.2_Missense_Mutation_p.F206C	p.F349C	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		8	1395	-			349					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1046T>G	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093912	0.56075	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.72167	-0.63;-0.63	4.87	3.64	0.41730	.	0.159418	0.56097	N	0.000027	T	0.79251	0.4414	M	0.73217	2.22	0.42575	D	0.993193	D;D	0.69078	0.997;0.974	D;D	0.68353	0.957;0.928	T	0.78580	-0.2149	10	0.72032	D	0.01	.	6.8697	0.24113	0.6957:0.1551:0.0:0.1492	.	206;349	E7EM68;Q14108	.;SCRB2_HUMAN	C	349;206	ENSP00000264896:F349C;ENSP00000399154:F206C	ENSP00000264896:F349C	F	-	2	0	SCARB2	77310111	0.999000	0.42202	0.944000	0.38274	0.981000	0.71138	1.880000	0.39628	0.765000	0.33221	0.377000	0.23210	TTT		0.398	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		37	71	0	0	0	1	0	37	71				
ABCC2	1244	broad.mit.edu	37	10	101590553	101590553	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101590553A>G	ENST00000370449.4	+	21	2941	c.2828A>G	c.(2827-2829)gAa>gGa	p.E943G		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	943					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AAGGAAGACGAAGAACTAGTG	0.418																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(2827-2829)gAa>gGa		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						89.0	87.0	88.0					10																	101590553		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101590553A>G	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2828A>G	10.37:g.101590553A>G	ENSP00000359478:p.Glu943Gly						p.E943G	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	21	2941	+		Colorectal(252;0.234)	943					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.2828A>G	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216370	0.39201	.	.	ENSG00000023839	ENST00000370449	D	0.90324	-2.65	5.95	4.81	0.61882	ABC transporter, transmembrane domain, type 1 (1);	0.770165	0.12916	N	0.428583	D	0.85729	0.5764	L	0.55834	1.745	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72090	-0.4395	10	0.26408	T	0.33	-3.0606	4.2436	0.10660	0.6794:0.1276:0.0701:0.1229	.	943	Q92887	MRP2_HUMAN	G	943	ENSP00000359478:E943G	ENSP00000359478:E943G	E	+	2	0	ABCC2	101580543	0.006000	0.16342	0.001000	0.08648	0.518000	0.34316	0.976000	0.29462	1.068000	0.40764	0.459000	0.35465	GAA		0.418	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		3	63	0	0	0	1	0	3	63				
FOXP1	27086	broad.mit.edu	37	3	71026811	71026811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71026811C>T	ENST00000318789.4	-	16	1936	c.1411G>A	c.(1411-1413)Gca>Aca	p.A471T	FOXP1_ENST00000475937.1_Missense_Mutation_p.A471T|FOXP1_ENST00000493089.1_Missense_Mutation_p.A470T|FOXP1_ENST00000484350.1_Missense_Mutation_p.A395T|FOXP1_ENST00000491238.1_Missense_Mutation_p.A473T|FOXP1_ENST00000468577.1_Missense_Mutation_p.A471T|FOXP1_ENST00000498215.1_Missense_Mutation_p.A471T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	471					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATTAAAGATGCATATGTAAAT	0.299			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1411-1413)Gca>Aca		forkhead box P1							125.0	129.0	128.0					3																	71026811		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71026811C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1411G>A	3.37:g.71026811C>T	ENSP00000318902:p.Ala471Thr					FOXP1_ENST00000484350.1_Missense_Mutation_p.A395T|FOXP1_ENST00000493089.1_Missense_Mutation_p.A470T|FOXP1_ENST00000475937.1_Missense_Mutation_p.A471T|FOXP1_ENST00000498215.1_Missense_Mutation_p.A471T|FOXP1_ENST00000491238.1_Missense_Mutation_p.A473T|FOXP1_ENST00000468577.1_Missense_Mutation_p.A471T	p.A471T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	16	1936	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	471					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1411G>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582552	0.86748	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	6.17	6.17	0.99709	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98096	0.9372	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.991;0.986;0.999;0.999	D	0.98068	1.0397	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	470;470;470;395;471	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	T	471;283;471;471;367;473;470;471;395;471	ENSP00000318902:A471T;ENSP00000419393:A471T;ENSP00000418225:A367T;ENSP00000420736:A473T;ENSP00000418524:A470T;ENSP00000418102:A471T;ENSP00000417857:A395T;ENSP00000418883:A471T	ENSP00000318902:A471T	A	-	1	0	FOXP1	71109501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCA		0.299	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		6	73	0	0	0	1	0	6	73				
PUF60	22827	broad.mit.edu	37	8	144898851	144898851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144898851C>A	ENST00000526683.1	-	12	2074	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	PUF60_ENST00000527197.1_Nonsense_Mutation_p.E461*|PUF60_ENST00000453551.2_Nonsense_Mutation_p.E464*|PUF60_ENST00000313352.7_Nonsense_Mutation_p.E447*|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000456095.2_Nonsense_Mutation_p.E478*|PUF60_ENST00000349157.6_Nonsense_Mutation_p.E490*|SCRIB_ENST00000377533.3_5'Flank|SCRIB_ENST00000320476.3_5'Flank|SCRIB_ENST00000356994.2_5'Flank	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	507	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCATCCTCCTCCTCGCCT	0.542																																						ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(1519-1521)Gag>Tag		poly-U binding splicing factor 60KDa							350.0	365.0	360.0					8																	144898851		2100	4225	6325	SO:0001587	stop_gained	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144898851C>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1519G>T	8.37:g.144898851C>A	ENSP00000434359:p.Glu507*					PUF60_ENST00000527197.1_Nonsense_Mutation_p.E461*|PUF60_ENST00000453551.2_Nonsense_Mutation_p.E464*|PUF60_ENST00000456095.2_Nonsense_Mutation_p.E478*|PUF60_ENST00000313352.7_Nonsense_Mutation_p.E447*|PUF60_ENST00000349157.6_Nonsense_Mutation_p.E490*	p.E507*	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	2074	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		507			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Nonsense_Mutation	SNP	ENST00000526683.1	37	c.1519G>T	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836938	0.91117	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	.	.	.	5.41	5.41	0.78517	.	0.052490	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.1632	0.89716	0.0:1.0:0.0:0.0	.	.	.	.	X	507;464;447;478;490;461	.	ENSP00000322016:E447X	E	-	1	0	PUF60	144970839	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	7.083000	0.76859	2.537000	0.85549	0.551000	0.68910	GAG		0.542	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		47	162	1	0	3.39706e-21	1	4.46735e-21	47	162				
DDX42	11325	broad.mit.edu	37	17	61895514	61895514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895514G>A	ENST00000578681.1	+	19	3174	c.2573G>A	c.(2572-2574)cGg>cAg	p.R858Q	DDX42_ENST00000583590.1_Missense_Mutation_p.R858Q|DDX42_ENST00000359353.5_Missense_Mutation_p.R739Q|DDX42_ENST00000457800.2_Missense_Mutation_p.R858Q|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.R858Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	858	Gly-rich.|His-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATGGCCATCGGCACGGGGAG	0.567																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(2572-2574)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box helicase 42							83.0	82.0	82.0					17																	61895514		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61895514G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2573G>A	17.37:g.61895514G>A	ENSP00000464050:p.Arg858Gln					DDX42_ENST00000583590.1_Missense_Mutation_p.R858Q|DDX42_ENST00000457800.2_Missense_Mutation_p.R858Q|DDX42_ENST00000359353.5_Missense_Mutation_p.R739Q|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.R858Q	p.R858Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			19	3174	+			858			Gly-rich.|His-rich.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2573G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041321	0.35989	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.20881	2.04;2.04	5.06	3.08	0.35506	.	0.978663	0.08392	N	0.952792	T	0.27731	0.0682	L	0.56769	1.78	0.47994	D	0.999567	D;B	0.55385	0.971;0.016	P;B	0.45829	0.494;0.001	T	0.06625	-1.0816	10	0.87932	D	0	-1.8055	9.6683	0.39998	0.0785:0.1513:0.7702:0.0	.	404;858	B3KV84;Q86XP3	.;DDX42_HUMAN	Q	858;858;575	ENSP00000374574:R858Q;ENSP00000390121:R858Q	ENSP00000352308:R575Q	R	+	2	0	DDX42	59249246	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.025000	0.76449	0.727000	0.32360	0.467000	0.42956	CGG		0.567	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		32	52	0	0	0	1	0	32	52				
SPEN	23013	broad.mit.edu	37	1	16235929	16235929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16235929G>A	ENST00000375759.3	+	4	1199	c.995G>A	c.(994-996)cGt>cAt	p.R332H	snoU13_ENST00000459258.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	332					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGAGCCCCGTAAAAGTTTT	0.458																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(994-996)cGt>cAt		spen family transcriptional repressor							125.0	132.0	130.0					1																	16235929		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16235929G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.995G>A	1.37:g.16235929G>A	ENSP00000364912:p.Arg332His						p.R332H	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	4	1199	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	332					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.995G>A	CCDS164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.291265|4.291265	0.80914|0.80914	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753|ENST00000442985	T;T|.	0.34667|.	3.31;1.35|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Nucleotide-binding, alpha-beta plait (1);|.	.|.	.|.	.|.	.|.	T|T	0.57272|0.57272	0.2042|0.2042	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.51818|0.51818	-0.8657|-0.8657	9|5	0.51188|.	T|.	0.08|.	-12.1453|-12.1453	17.5259|17.5259	0.87800|0.87800	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	332|.	Q96T58|.	MINT_HUMAN|.	H|I	332;291;291|72	ENSP00000364912:R332H;ENSP00000388021:R291H|.	ENSP00000364906:R291H|.	R|V	+|+	2|1	0|0	SPEN|SPEN	16108516|16108516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.414000|9.414000	0.97362|0.97362	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.458	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		41	83	0	0	0	1	0	41	83				
LRP2BP	55805	broad.mit.edu	37	4	186288381	186288381	+	Missense_Mutation	SNP	C	C	T	rs555878132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186288381C>T	ENST00000328559.7	-	8	1808	c.997G>A	c.(997-999)Gca>Aca	p.A333T	LRP2BP_ENST00000510776.1_Missense_Mutation_p.A307T|LRP2BP_ENST00000362004.3_Missense_Mutation_p.A335T|LRP2BP_ENST00000505916.1_Missense_Mutation_p.A333T	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	333						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCTGCCAATGCGGGATTCAGA	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		19628	0.0		0.0	False		,,,				2504	0.001					ENST00000362004.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(1003-1005)Gca>Aca		LRP2 binding protein							145.0	151.0	149.0					4																	186288381		2203	4300	6503	SO:0001583	missense	55805					cytoplasm	protein binding	g.chr4:186288381C>T	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.997G>A	4.37:g.186288381C>T	ENSP00000332681:p.Ala333Thr					LRP2BP_ENST00000510776.1_Missense_Mutation_p.A307T|LRP2BP_ENST00000505916.1_Missense_Mutation_p.A333T|LRP2BP_ENST00000328559.7_Missense_Mutation_p.A333T	p.A335T			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	8	1814	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	333					A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	c.1003G>A	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384856	0.25031	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.68	2.48	0.30137	Tetratricopeptide-like helical (1);	0.757438	0.12594	N	0.455355	T	0.20618	0.0496	N	0.04508	-0.205	0.09310	N	1	B;B	0.16396	0.017;0.002	B;B	0.08055	0.003;0.001	T	0.25779	-1.0122	10	0.13853	T	0.58	-0.4173	5.4338	0.16469	0.1496:0.6535:0.0:0.1969	.	307;333	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	T	335;333;307;333	ENSP00000354846:A335T;ENSP00000332681:A333T;ENSP00000424610:A307T;ENSP00000426203:A333T	ENSP00000332681:A333T	A	-	1	0	LRP2BP	186525375	0.001000	0.12720	0.045000	0.18777	0.682000	0.39822	0.555000	0.23422	0.147000	0.19030	0.591000	0.81541	GCA		0.323	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		49	71	0	0	0	1	0	49	71				
RNPEPL1	57140	broad.mit.edu	37	2	241516172	241516172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241516172G>A	ENST00000270357.4	+	9	1631	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	346					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ATGGGTCCCCGCTGCCGCAGG	0.692																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(1036-1038)ccG>ccA		arginyl aminopeptidase (aminopeptidase B)-like 1							25.0	29.0	27.0					2																	241516172		2190	4278	6468	SO:0001819	synonymous_variant	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516172G>A			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1038G>A	2.37:g.241516172G>A						RNPEPL1_ENST00000464550.1_3'UTR	p.P346P	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	9	1631	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	346					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	ENST00000270357.4	37	c.1038G>A																																																																																					0.692	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		17	25	0	0	0	1	0	17	25				
ZZEF1	23140	broad.mit.edu	37	17	3945724	3945724	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3945724G>A	ENST00000381638.2	-	39	6429	c.6305C>T	c.(6304-6306)tCg>tTg	p.S2102L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2102							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCCTTACCGACTTTAAGGG	0.423																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.e39+1		zinc finger, ZZ-type with EF-hand domain 1							100.0	99.0	100.0					17																	3945724		2203	4300	6503	SO:0001630	splice_region_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3945724G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6306+1C>T	17.37:g.3945724G>A							p.S2102_splice	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			39	6429	-			2102					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Splice_Site	SNP	ENST00000381638.2	37	c.6306_splice	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139965	0.37728	.	.	ENSG00000074755	ENST00000381638	T	0.22539	1.95	5.31	3.27	0.37495	.	0.433632	0.25851	N	0.027884	T	0.11836	0.0288	N	0.12182	0.205	0.80722	D	1	B;B	0.13145	0.007;0.006	B;B	0.09377	0.004;0.002	T	0.08534	-1.0717	10	0.38643	T	0.18	-0.4609	11.0474	0.47867	0.156:0.0:0.844:0.0	.	2102;2102	O43149-2;O43149	.;ZZEF1_HUMAN	L	2102	ENSP00000371051:S2102L	ENSP00000371051:S2102L	S	-	2	0	ZZEF1	3892473	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.631000	0.37092	0.585000	0.29608	-0.145000	0.13849	TCG		0.423	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	Missense_Mutation	42	55	0	0	0	1	0	42	55				
SYCP1	6847	broad.mit.edu	37	1	115428851	115428851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115428851G>A	ENST00000369522.3	+	14	1351	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	SYCP1_ENST00000369518.1_Missense_Mutation_p.A371T	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	371					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAAGCTAGAGCTGCTCATTC	0.318																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1111-1113)Gct>Act		synaptonemal complex protein 1							79.0	86.0	84.0					1																	115428851		2203	4298	6501	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115428851G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1111G>A	1.37:g.115428851G>A	ENSP00000358535:p.Ala371Thr					SYCP1_ENST00000369518.1_Missense_Mutation_p.A371T	p.A371T	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	1351	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	371					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1111G>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	8.988	0.977091	0.18812	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.44083	0.93;0.93;0.93	5.83	-0.803	0.10886	.	0.726912	0.13624	N	0.374204	T	0.07954	0.0199	N	0.17474	0.49	0.25006	N	0.991438	B;B	0.12013	0.005;0.003	B;B	0.17722	0.019;0.019	T	0.42481	-0.9449	10	0.13470	T	0.59	0.3251	9.2078	0.37300	0.5287:0.0:0.4713:0.0	.	371;371	B7ZLS9;Q15431	.;SYCP1_HUMAN	T	371	ENSP00000358535:A371T;ENSP00000410011:A371T;ENSP00000358531:A371T	ENSP00000358531:A371T	A	+	1	0	SYCP1	115230374	1.000000	0.71417	0.993000	0.49108	0.690000	0.40134	0.578000	0.23773	-0.154000	0.11118	0.561000	0.74099	GCT		0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		23	54	0	0	0	1	0	23	54				
IL1RL1	9173	broad.mit.edu	37	2	102958715	102958715	+	Missense_Mutation	SNP	G	G	A	rs75320001	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958715G>A	ENST00000233954.1	+	6	914	c.643G>A	c.(643-645)Gga>Aga	p.G215R	IL1RL1_ENST00000409584.1_Missense_Mutation_p.G215R|IL1RL1_ENST00000404917.2_Missense_Mutation_p.G98R|IL1RL1_ENST00000311734.2_Missense_Mutation_p.G215R	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	215	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.G215R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCAGTAATCGGAGCCCCTGC	0.338													g|||	11	0.00219649	0.0	0.0	5008	,	,		16855	0.0109		0.0	False		,,,				2504	0.0					ENST00000311734.2																			1	Substitution - Missense(1)	p.G215R(1)	ovary(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(643-645)Gga>Aga		interleukin 1 receptor-like 1							92.0	96.0	94.0					2																	102958715		2202	4300	6502	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102958715G>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.643G>A	2.37:g.102958715G>A	ENSP00000233954:p.Gly215Arg					IL1RL1_ENST00000404917.2_Missense_Mutation_p.G98R|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G215R|IL1RL1_ENST00000409584.1_Missense_Mutation_p.G215R	p.G215R			Q01638	ILRL1_HUMAN			6	982	+			215			Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.643G>A	CCDS2057.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	g	0.547	-0.851194	0.02651	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.13538	4.12;4.12;4.12;2.58	4.46	-1.28	0.09318	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.666150	0.02689	N	0.110471	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.26849	-1.0091	10	0.38643	T	0.18	.	0.9797	0.01433	0.4173:0.1659:0.0955:0.3213	.	98;215;215	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	R	215;98;215;215	ENSP00000233954:G215R;ENSP00000384822:G98R;ENSP00000310371:G215R;ENSP00000386618:G215R	ENSP00000233954:G215R	G	+	1	0	IL1RL1	102325147	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.235000	0.09016	-0.396000	0.07703	-0.430000	0.05897	GGA		0.338	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		22	35	0	0	0	1	0	22	35				
CYP2B6	1555	broad.mit.edu	37	19	41518713	41518713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41518713C>A	ENST00000324071.4	+	8	1294	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	CYP2B6_ENST00000330446.5_Missense_Mutation_p.F229L|CYP2B6_ENST00000593831.1_Missense_Mutation_p.F193L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	429					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TTATCCCCTTCTCCTTAGGTA	0.458																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1285-1287)ttC>ttA		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						168.0	173.0	171.0					19																	41518713		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41518713C>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1287C>A	19.37:g.41518713C>A	ENSP00000324648:p.Phe429Leu					CYP2B6_ENST00000593831.1_Missense_Mutation_p.F193L|CYP2B6_ENST00000330446.5_Missense_Mutation_p.F229L	p.F429L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		8	1294	+			429					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.1287C>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014767	0.54468	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	D;D	0.96300	-3.97;-3.97	3.5	1.18	0.20946	Cytochrome P450, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98378	0.9461	H	0.97874	4.095	0.27315	N	0.957199	P;D	0.76494	0.662;0.999	B;D	0.72982	0.177;0.979	D	0.93431	0.6785	10	0.87932	D	0	.	6.5511	0.22433	0.0:0.7029:0.1847:0.1124	.	229;429	B4DWP3;P20813	.;CP2B6_HUMAN	L	429;229	ENSP00000324648:F429L;ENSP00000330650:F229L	ENSP00000324648:F429L	F	+	3	2	CYP2B6	46210553	0.167000	0.22975	0.709000	0.30452	0.724000	0.41520	-0.556000	0.05992	0.653000	0.30826	0.313000	0.20887	TTC		0.458	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		78	148	1	0	3.71121e-27	1	4.94952e-27	78	148				
WWC3	55841	broad.mit.edu	37	X	10096201	10096201	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10096201G>T	ENST00000380861.4	+	16	2671	c.2280G>T	c.(2278-2280)acG>acT	p.T760T	WWC3_ENST00000454666.1_Splice_Site_p.T760T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	760					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						CCGGCAAGACGGTACTTGGCC	0.567																																						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.e16+1		WWC family member 3							44.0	40.0	41.0					X																	10096201		2203	4300	6503	SO:0001630	splice_region_variant	55841							g.chrX:10096201G>T	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.2280+1G>T	X.37:g.10096201G>T						WWC3_ENST00000454666.1_Splice_Site_p.T760_splice	p.T760_splice	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			16	2671	+			760					A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	ENST00000380861.4	37	c.2280_splice	CCDS14136.1																																																																																				0.567	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Silent	15	30	1	0	3.52763e-06	1	4.04633e-06	15	30				
ZNRF2	223082	broad.mit.edu	37	7	30363339	30363339	+	Missense_Mutation	SNP	G	G	A	rs142290977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30363339G>A	ENST00000323037.4	+	2	1602	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	184						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R184L(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ACAAAGCCACGAATAACCTAT	0.269																																						ENST00000323037.4																			1	Substitution - Missense(1)	p.R184L(1)	lung(1)	breast(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(550-552)cGa>cAa		zinc and ring finger 2		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	111.0	115.0	114.0		551	5.8	1.0	7	dbSNP_134	114	0,8598		0,0,4299	no	missense	ZNRF2	NM_147128.3	43	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	184/243	30363339	3,13001	2203	4299	6502	SO:0001583	missense	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30363339G>A	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.551G>A	7.37:g.30363339G>A	ENSP00000323879:p.Arg184Gln						p.R184Q	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN			2	1602	+			184						Missense_Mutation	SNP	ENST00000323037.4	37	c.551G>A	CCDS5426.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373299	0.95923	6.81E-4	0.0	ENSG00000180233	ENST00000323037;ENST00000319243	T	0.54479	0.57	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000001	T	0.63954	0.2555	M	0.64997	1.995	0.58432	D	0.999993	D	0.67145	0.996	P	0.58013	0.831	T	0.56872	-0.7907	10	0.13470	T	0.59	-12.6276	17.4851	0.87685	0.0:0.0:1.0:0.0	.	184	Q8NHG8	ZNRF2_HUMAN	Q	184;122	ENSP00000323879:R184Q	ENSP00000326497:R122Q	R	+	2	0	ZNRF2	30329864	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.599000	0.90856	2.734000	0.93682	0.585000	0.79938	CGA		0.269	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		29	96	0	0	0	1	0	29	96				
CDC42BPA	8476	broad.mit.edu	37	1	227223260	227223260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227223260G>T	ENST00000366769.3	-	24	4434	c.3143C>A	c.(3142-3144)aCt>aAt	p.T1048N	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1020N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1028N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1083N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1048N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1061N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T967N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AACTGGACAAGTGGTTGGAGC	0.378																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3142-3144)aCt>aAt		CDC42 binding protein kinase alpha (DMPK-like)							101.0	101.0	101.0					1																	227223260		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227223260G>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3143C>A	1.37:g.227223260G>T	ENSP00000355731:p.Thr1048Asn					CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1083N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T967N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1048N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1020N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1028N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1061N	p.T1048N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			24	4434	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1061						Missense_Mutation	SNP	ENST00000366769.3	37	c.3143C>A	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.62|14.62	2.588752|2.588752	0.46110|0.46110	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|D;D;D;D;D;D;D	.|0.92495	.|-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.8|5.8	1.26|1.26	0.21427|0.21427	.|.	.|0.785544	.|0.12220	.|N	.|0.488454	T|T	0.79381|0.79381	0.4436|0.4436	N|N	0.02697|0.02697	-0.525|-0.525	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.30634	.|0.209;0.134;0.288;0.075;0.04;0.04;0.288	.|B;B;B;B;B;B;B	.|0.33620	.|0.043;0.081;0.167;0.056;0.071;0.071;0.167	T|T	0.70378|0.70378	-0.4888|-0.4888	5|10	.|0.34782	.|T	.|0.22	.|.	6.8615|6.8615	0.24069|0.24069	0.5953:0.0:0.4047:0.0|0.5953:0.0:0.4047:0.0	.|.	.|1028;1020;363;967;1048;1083;250	.|F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.	Q|N	250;376;272|1048;967;1048;1083;1020;363;1028;1061	.|ENSP00000355731:T1048N;ENSP00000355729:T967N;ENSP00000335341:T1048N;ENSP00000355728:T1083N;ENSP00000355726:T1020N;ENSP00000443275:T1028N;ENSP00000355727:T1061N	.|ENSP00000335341:T1048N	H|T	-|-	3|2	2|0	CDC42BPA|CDC42BPA	225289883|225289883	0.503000|0.503000	0.26115|0.26115	0.015000|0.015000	0.15790|0.15790	0.972000|0.972000	0.66771|0.66771	4.566000|4.566000	0.60843|0.60843	0.357000|0.357000	0.24183|0.24183	0.650000|0.650000	0.86243|0.86243	CAC|ACT		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		7	83	1	0	5.18039e-06	1	5.91835e-06	7	83				
CLK3	1198	broad.mit.edu	37	15	74912538	74912538	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74912538G>A	ENST00000395066.3	+	3	1246	c.785G>A	c.(784-786)cGc>cAc	p.R262H	CLK3_ENST00000345005.4_Missense_Mutation_p.R114H|CLK3_ENST00000352989.5_Missense_Mutation_p.R114H|CLK3_ENST00000348245.3_Missense_Mutation_p.R114H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	262	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACAAACGCCGCACCAGGTCT	0.617																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(784-786)cGc>cAc		CDC-like kinase 3							99.0	111.0	107.0					15																	74912538		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74912538G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.785G>A	15.37:g.74912538G>A	ENSP00000378505:p.Arg262His					CLK3_ENST00000352989.5_Missense_Mutation_p.R114H|CLK3_ENST00000345005.4_Missense_Mutation_p.R114H|CLK3_ENST00000348245.3_Missense_Mutation_p.R114H	p.R262H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			3	1246	+			262			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.785G>A	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588834	0.96590	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.53206	0.63;0.67	5.95	5.95	0.96441	.	0.086069	0.47093	D	0.000250	T	0.66317	0.2777	L	0.54323	1.7	0.54753	D	0.999983	D;D;D	0.89917	0.999;1.0;0.995	P;D;P	0.79784	0.869;0.993;0.706	T	0.61207	-0.7109	10	0.41790	T	0.15	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	262;262;114	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	H	114;114;262;114;114	ENSP00000344112:R114H;ENSP00000323106:R114H	ENSP00000344112:R114H	R	+	2	0	CLK3	72699591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.143000	0.71756	2.824000	0.97209	0.655000	0.94253	CGC		0.617	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			37	62	0	0	0	1	0	37	62				
CFAP43	80217	broad.mit.edu	37	10	105974145	105974145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105974145C>T	ENST00000278064.2	-	4	571	c.246G>A	c.(244-246)caG>caA	p.Q82Q	WDR96_ENST00000369720.1_Silent_p.Q82Q|WDR96_ENST00000357060.3_Silent_p.Q152Q|WDR96_ENST00000369719.1_Silent_p.Q82Q|WDR96_ENST00000428666.1_Silent_p.Q152Q																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCATTCCAGGCTGTGATTTCT	0.378																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(454-456)caG>caA		WD repeat domain 96							127.0	116.0	120.0					10																	105974145		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105974145C>T																												ENST00000278064.2:c.246G>A	10.37:g.105974145C>T						WDR96_ENST00000278064.2_Silent_p.Q82Q|WDR96_ENST00000369719.1_Silent_p.Q82Q|WDR96_ENST00000428666.1_Silent_p.Q152Q|WDR96_ENST00000369720.1_Silent_p.Q82Q	p.Q152Q	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			4	571	-			152						Silent	SNP	ENST00000278064.2	37	c.456G>A																																																																																					0.378	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			28	38	0	0	0	1	0	28	38				
LANCL1	10314	broad.mit.edu	37	2	211302421	211302421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211302421G>A	ENST00000443314.1	-	6	1208	c.866C>T	c.(865-867)gCc>gTc	p.A289V	AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.A289V|LANCL1_ENST00000441020.3_Missense_Mutation_p.A289V|LANCL1_ENST00000450366.2_Missense_Mutation_p.A289V|LANCL1_ENST00000431941.2_Missense_Mutation_p.A289V|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	289					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACCTTATAGGCCTGGATGAG	0.348																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(865-867)gCc>gTc		LanC lantibiotic synthetase component C-like 1 (bacterial)							56.0	56.0	56.0					2																	211302421		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211302421G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.866C>T	2.37:g.211302421G>A	ENSP00000388713:p.Ala289Val					AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.A289V|LANCL1_ENST00000450366.2_Missense_Mutation_p.A289V|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.A289V|LANCL1_ENST00000233714.4_Missense_Mutation_p.A289V	p.A289V			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	6	1208	-			289						Missense_Mutation	SNP	ENST00000443314.1	37	c.866C>T	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364366	0.82463	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.91	5.91	0.95273	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84388	0.0553	10	0.87932	D	0	-15.6861	20.2985	0.98592	0.0:0.0:1.0:0.0	.	289	O43813	LANC1_HUMAN	V	289	ENSP00000388713:A289V;ENSP00000393323:A289V;ENSP00000393597:A289V;ENSP00000233714:A289V;ENSP00000397646:A289V	ENSP00000233714:A289V	A	-	2	0	LANCL1	211010666	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GCC		0.348	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		16	32	0	0	0	1	0	16	32				
PRSS35	167681	broad.mit.edu	37	6	84233275	84233275	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84233275A>T	ENST00000369700.3	+	2	292	c.115A>T	c.(115-117)Agt>Tgt	p.S39C	PRSS35_ENST00000536636.1_Missense_Mutation_p.S39C	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	39						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCGGATTGTCAGTGAAAGGAC	0.468																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(115-117)Agt>Tgt		protease, serine, 35							140.0	138.0	139.0					6																	84233275		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233275A>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.115A>T	6.37:g.84233275A>T	ENSP00000358714:p.Ser39Cys					PRSS35_ENST00000369700.3_Missense_Mutation_p.S39C	p.S39C	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	460	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	39					A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.115A>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870943	0.33069	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.33	4.15	0.48705	.	0.245044	0.47455	D	0.000224	T	0.35422	0.0931	M	0.68317	2.08	0.44966	D	0.997987	D	0.57257	0.979	B	0.43155	0.41	T	0.46162	-0.9211	10	0.87932	D	0	7.0E-4	11.2736	0.49153	0.9271:0.0:0.0729:0.0	.	39	Q8N3Z0	PRS35_HUMAN	C	39	ENSP00000440870:S39C;ENSP00000358714:S39C	ENSP00000358714:S39C	S	+	1	0	PRSS35	84289994	1.000000	0.71417	0.997000	0.53966	0.246000	0.25737	3.266000	0.51569	2.029000	0.59856	0.459000	0.35465	AGT		0.468	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		4	74	0	0	0	1	0	4	74				
MUC5B	727897	broad.mit.edu	37	11	1275507	1275507	+	Missense_Mutation	SNP	G	G	A	rs575694536		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1275507G>A	ENST00000529681.1	+	34	15461	c.15403G>A	c.(15403-15405)Gcc>Acc	p.A5135T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A5138T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5135	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCCCCCGCGCCCTCAGCAT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17555	0.0		0.0	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15412-15414)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							31.0	40.0	37.0					11																	1275507		2159	4265	6424	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275507G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15403G>A	11.37:g.1275507G>A	ENSP00000436812:p.Ala5135Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A5135T	p.A5138T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	34	15470	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5135			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15412G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445703	0.25987	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.59638	0.25;0.25	4.4	3.41	0.39046	.	.	.	.	.	T	0.61362	0.2341	L	0.38953	1.18	0.09310	N	0.999999	D;D	0.76494	0.995;0.999	P;D	0.66084	0.901;0.941	T	0.49244	-0.8960	9	0.87932	D	0	.	6.2137	0.20644	0.1013:0.0:0.6414:0.2573	.	5472;5138	A7Y9J9;E9PBJ0	.;.	T	5135;5138;5079;34;4847	ENSP00000436812:A5135T;ENSP00000415793:A5138T	ENSP00000343037:A5079T	A	+	1	0	MUC5B	1232083	0.496000	0.26059	0.536000	0.28039	0.757000	0.42996	1.699000	0.37804	2.162000	0.67917	0.400000	0.26472	GCC		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		23	21	0	0	0	1	0	23	21				
N4BP1	9683	broad.mit.edu	37	16	48596356	48596356	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596356C>A	ENST00000262384.3	-	2	435		c.e2-1		RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1						cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAATATATTCCTGTAAAGAGA	0.338																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.e2-1		NEDD4 binding protein 1							27.0	28.0	28.0					16																	48596356		1803	4066	5869	SO:0001630	splice_region_variant	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48596356C>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.199-1G>T	16.37:g.48596356C>A						RP11-44I10.3_ENST00000563994.1_RNA		NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	435	-		all_cancers(37;0.179)|all_lung(18;0.11)						A7MD49|Q2YDX1	Splice_Site	SNP	ENST00000262384.3	37		CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906958	0.52333	.	.	ENSG00000102921	ENST00000262384	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6558	0.95837	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	N4BP1	47153857	1.000000	0.71417	0.997000	0.53966	0.752000	0.42762	7.317000	0.79018	2.719000	0.93026	0.655000	0.94253	.		0.338	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	Intron	5	15	1	0	1.23904e-05	1	1.39987e-05	5	15				
MEN1	4221	broad.mit.edu	37	11	64575411	64575411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64575411G>A	ENST00000337652.1	-	3	1124	c.621C>T	c.(619-621)ggC>ggT	p.G207G	MEN1_ENST00000443283.1_Silent_p.G207G|MEN1_ENST00000394374.2_Silent_p.G207G|MEN1_ENST00000377313.1_Silent_p.G207G|MEN1_ENST00000377326.3_Silent_p.G202G|MEN1_ENST00000312049.6_Silent_p.G202G|MEN1_ENST00000315422.4_Silent_p.G202G|MEN1_ENST00000377316.2_Silent_p.G202G|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000394376.1_Silent_p.G207G|MEN1_ENST00000377321.1_Intron	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	207					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGTCCTCGTTGCCCTTGCCGT	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(619-621)ggC>ggT		multiple endocrine neoplasia I							84.0	65.0	72.0					11																	64575411		2201	4297	6498	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575411G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.621C>T	11.37:g.64575411G>A						MEN1_ENST00000312049.6_Silent_p.G202G|MEN1_ENST00000315422.4_Silent_p.G202G|MEN1_ENST00000377316.2_Silent_p.G202G|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377313.1_Silent_p.G207G|MEN1_ENST00000443283.1_Silent_p.G207G|MEN1_ENST00000394374.2_Silent_p.G207G|MEN1_ENST00000394376.1_Silent_p.G207G|MEN1_ENST00000377326.3_Silent_p.G202G	p.G207G	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1124	-			207					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.621C>T	CCDS8083.1																																																																																				0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			17	23	0	0	0	1	0	17	23				
SIK3	23387	broad.mit.edu	37	11	116798086	116798086	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116798086C>A	ENST00000292055.4	-	4	326	c.291G>T	c.(289-291)gtG>gtT	p.V97V	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Silent_p.V155V|SIK3_ENST00000446921.2_Silent_p.V155V|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000542607.1_Silent_p.V97V	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TACCATGGGCCACCAGGTGGT	0.448																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(463-465)gtG>gtT		SIK family kinase 3							139.0	124.0	129.0					11																	116798086		2201	4296	6497	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116798086C>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.291G>T	11.37:g.116798086C>A						SIK3_ENST00000446921.2_Silent_p.V155V|SIK3_ENST00000542607.1_Silent_p.V97V|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Silent_p.V97V	p.V155V			Q9Y2K2	SIK3_HUMAN			4	470	-			97			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.465G>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595731	0.28445	.	.	ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553	.	.	.	5.48	3.37	0.38596	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61574	-0.7035	4	.	.	.	.	12.2832	0.54776	0.1271:0.8031:0.0:0.0698	.	.	.	.	C	149;120;58	.	.	G	-	1	0	SIK3	116303296	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.742000	0.26216	1.273000	0.44346	0.655000	0.94253	GGC		0.448	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		31	77	1	0	1.22384e-17	1	1.58917e-17	31	77				
JMJD8	339123	broad.mit.edu	37	16	732441	732441	+	3'UTR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:732441G>T	ENST00000293882.4	-	0	1357				JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.E288D|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_Missense_Mutation_p.E216D|LA16c-313D11.9_ENST00000567091.1_RNA|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000564370.1_Missense_Mutation_p.E216D			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						CTATGAAGGAGGTTATTGACG	0.597																																						ENST00000565677.1																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.(646-648)gaG>gaT		STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase							96.0	87.0	90.0					16																	732441		2201	4300	6501	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:732441G>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*353C>A	16.37:g.732441G>T						JMJD8_ENST00000454700.1_3'UTR|STUB1_ENST00000564370.1_Missense_Mutation_p.E216D|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.10_ENST00000567405.2_RNA|STUB1_ENST00000219548.4_Missense_Mutation_p.E288D|LA16c-313D11.11_ENST00000565813.1_RNA|JMJD8_ENST00000293882.4_3'UTR	p.E216D			Q9UNE7	CHIP_HUMAN			7	1255	+		Hepatocellular(780;0.00335)	288					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.648G>T		.	.	.	.	.	.	.	.	.	.	G	7.037	0.561717	0.13498	.	.	ENSG00000103266	ENST00000219548	T	0.15834	2.39	4.81	-1.54	0.08584	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.124806	0.52532	D	0.000071	T	0.12774	0.0310	L	0.37897	1.145	0.80722	D	1	B	0.29805	0.257	B	0.29353	0.101	T	0.06954	-1.0798	10	0.48119	T	0.1	-26.9923	12.8448	0.57823	0.3718:0.0:0.6282:0.0	.	288	Q9UNE7	CHIP_HUMAN	D	288	ENSP00000219548:E288D	ENSP00000219548:E288D	E	+	3	2	STUB1	672442	1.000000	0.71417	0.988000	0.46212	0.039000	0.13416	1.735000	0.38176	-0.392000	0.07751	-2.069000	0.00389	GAG		0.597	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		8	75	1	0	1.12685e-05	1	1.27857e-05	8	75				
MMP27	64066	broad.mit.edu	37	11	102562576	102562576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102562576T>C	ENST00000260229.4	-	10	1554	c.1463A>G	c.(1462-1464)aAg>aGg	p.K488R		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	488	Required for retention in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.				collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	ATACAATATCTTTATGCCTCC	0.299																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1462-1464)aAg>aGg		matrix metallopeptidase 27							122.0	121.0	121.0					11																	102562576		2203	4298	6501	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102562576T>C	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1463A>G	11.37:g.102562576T>C	ENSP00000260229:p.Lys488Arg						p.K488R	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	10	1554	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	488					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.1463A>G	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818612	0.32145	.	.	ENSG00000137675	ENST00000260229	T	0.13307	2.6	5.71	0.766	0.18476	.	1.480990	0.04208	N	0.331149	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34279	-0.9835	10	0.51188	T	0.08	.	3.8862	0.09099	0.1541:0.2498:0.0:0.5961	.	488	Q9H306	MMP27_HUMAN	R	488	ENSP00000260229:K488R	ENSP00000260229:K488R	K	-	2	0	MMP27	102067786	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.283000	0.18846	0.087000	0.17167	0.383000	0.25322	AAG		0.299	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		8	75	0	0	0	1	0	8	75				
BBS7	55212	broad.mit.edu	37	4	122754537	122754537	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122754537G>T	ENST00000264499.4	-	15	1708	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M	BBS7_ENST00000506636.1_Missense_Mutation_p.L509M	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	509					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTTAGGGTCAGTGTATTCATG	0.398									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1525-1527)Ctg>Atg		Bardet-Biedl syndrome 7							59.0	57.0	57.0					4																	122754537		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122754537G>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1525C>A	4.37:g.122754537G>T	ENSP00000264499:p.Leu509Met					BBS7_ENST00000506636.1_Missense_Mutation_p.L509M	p.L509M	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			15	1708	-			509					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1525C>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493637	0.64186	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.98437	-4.93;-4.9	5.93	1.09	0.20402	.	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.83223	2.63	0.49915	D	0.999838	D	0.67145	0.996	P	0.59825	0.864	D	0.96821	0.9604	10	0.72032	D	0.01	-8.4488	6.1547	0.20330	0.3471:0.1193:0.5337:0.0	.	509	Q8IWZ6	BBS7_HUMAN	M	509	ENSP00000264499:L509M;ENSP00000423626:L509M	ENSP00000264499:L509M	L	-	1	2	BBS7	122973987	0.940000	0.31905	0.954000	0.39281	0.993000	0.82548	1.470000	0.35354	0.365000	0.24400	0.655000	0.94253	CTG		0.398	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			8	58	1	0	0.00448238	1	0.00472561	8	58				
MANEAL	149175	broad.mit.edu	37	1	38265634	38265634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38265634G>T	ENST00000373045.6	+	4	1514	c.1133G>T	c.(1132-1134)aGg>aTg	p.R378M	MANEAL_ENST00000329006.5_Missense_Mutation_p.R156M|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Missense_Mutation_p.R184M|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	378						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACGCGCAACAGGGTCAATGGC	0.557																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(1132-1134)aGg>aTg		mannosidase, endo-alpha-like							82.0	88.0	86.0					1																	38265634		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265634G>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1133G>T	1.37:g.38265634G>T	ENSP00000362136:p.Arg378Met					MANEAL_ENST00000329006.5_Missense_Mutation_p.R156M|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.R184M|RP11-109P14.9_ENST00000433474.1_RNA	p.R378M	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			4	1514	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	378					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1133G>T	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700903	0.88924	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86497	0.5947	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89328	0.3645	9	0.87932	D	0	-26.9886	18.2155	0.89884	0.0:0.0:1.0:0.0	.	156;378	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	M	378;184;156	.	ENSP00000328770:R156M	R	+	2	0	MANEAL	38038221	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.363000	0.97131	2.662000	0.90505	0.655000	0.94253	AGG		0.557	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		9	55	1	0	0.000274275	1	0.000298791	9	55				
ERLIN1	10613	broad.mit.edu	37	10	101911983	101911983	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101911983C>A	ENST00000421367.2	-	11	3659	c.952G>T	c.(952-954)Gat>Tat	p.D318Y	ERLIN1_ENST00000407654.3_Missense_Mutation_p.D318Y	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	316					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)		p.D316H(1)					Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCCTAATATCTGAATATTTC	0.443																																						ENST00000421367.2																			1	Substitution - Missense(1)	p.D316H(1)	lung(1)								c.(952-954)Gat>Tat		ER lipid raft associated 1							118.0	113.0	115.0					10																	101911983		2203	4300	6503	SO:0001583	missense	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101911983C>A	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.952G>T	10.37:g.101911983C>A	ENSP00000410964:p.Asp318Tyr					ERLIN1_ENST00000407654.3_Missense_Mutation_p.D318Y	p.D318Y	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	11	3659	-		Colorectal(252;0.234)	316					B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	37	c.952G>T	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168517	0.57584	.	.	ENSG00000107566	ENST00000421367;ENST00000407654	T;T	0.69685	-0.42;-0.42	5.61	5.61	0.85477	.	0.337688	0.22045	U	0.065398	T	0.42017	0.1184	N	0.02539	-0.55	0.43798	D	0.996348	P;B	0.38922	0.651;0.34	B;B	0.34038	0.174;0.174	T	0.56595	-0.7953	10	0.72032	D	0.01	-5.8427	15.5022	0.75709	0.0:1.0:0.0:0.0	.	316;318	O75477;D3DR65	ERLN1_HUMAN;.	Y	318	ENSP00000410964:D318Y;ENSP00000384900:D318Y	ENSP00000384900:D318Y	D	-	1	0	ERLIN1	101901973	0.251000	0.23961	0.986000	0.45419	0.990000	0.78478	1.377000	0.34317	2.815000	0.96918	0.561000	0.74099	GAT		0.443	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		25	44	1	0	1.64293e-13	1	2.0847e-13	25	44				
ASPSCR1	79058	broad.mit.edu	37	17	79970085	79970085	+	Intron	SNP	C	C	T	rs374927919		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79970085C>T	ENST00000306739.4	+	12	1397				ASPSCR1_ENST00000580534.1_Missense_Mutation_p.R375C|ASPSCR1_ENST00000306729.7_Intron	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1						glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTTCCTAACACGTAGGTGCCT	0.617			T	TFE3	alveolar soft part sarcoma								c|||	1	0.000199681	0.0	0.0	5008	,	,		17526	0.001		0.0	False		,,,				2504	0.0					ENST00000580534.1				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(1123-1125)Cgt>Tgt		alveolar soft part sarcoma chromosome region, candidate 1		T		0,4404		0,0,2202	150.0	105.0	121.0			-2.4	0.0	17		121	2,8598	2.2+/-6.3	0,2,4298	no	intron	ASPSCR1	NM_024083.2		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154			79970085	2,13002	2202	4300	6502	SO:0001627	intron_variant	79058						protein binding	g.chr17:79970085C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1301-22C>T	17.37:g.79970085C>T						ASPSCR1_ENST00000306729.7_Intron|ASPSCR1_ENST00000306739.4_Intron	p.R375C			Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		11	1311	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		433			Interaction with GLUT4 (By similarity).		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.1123C>T	CCDS11796.1																																																																																				0.617	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		11	25	0	0	0	1	0	11	25				
STK25	10494	broad.mit.edu	37	2	242439588	242439588	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242439588C>A	ENST00000316586.4	-	5	776	c.427G>T	c.(427-429)Gct>Tct	p.A143S	STK25_ENST00000543554.1_Splice_Site_p.A49S|STK25_ENST00000405883.3_Splice_Site_p.A66S|STK25_ENST00000401869.1_Splice_Site_p.A143S|STK25_ENST00000403346.3_Splice_Site_p.A143S|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000535007.1_Splice_Site_p.A49S|STK25_ENST00000405585.1_Splice_Site_p.A66S	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCAGCAGGACCTTTGATGTCT	0.597																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.e5+1		serine/threonine kinase 25							108.0	99.0	102.0					2																	242439588		2203	4300	6503	SO:0001630	splice_region_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242439588C>A	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.427+1G>T	2.37:g.242439588C>A						STK25_ENST00000403346.3_Splice_Site_p.A143_splice|STK25_ENST00000405585.1_Splice_Site_p.A66_splice|STK25_ENST00000405883.3_Splice_Site_p.A66_splice|STK25_ENST00000401869.1_Splice_Site_p.A143_splice|STK25_ENST00000543554.1_Splice_Site_p.A49_splice|STK25_ENST00000535007.1_Splice_Site_p.A49_splice	p.A143_splice	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	5	776	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	143			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Splice_Site	SNP	ENST00000316586.4	37	c.427_splice	CCDS2549.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	36|36|36	5.667708|5.667708|5.667708	0.96745|0.96745|0.96745	.|.|.	.|.|.	ENSG00000115694|ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760;ENST00000429279;ENST00000436402|ENST00000440109|ENST00000423004	T;T;T;T;T;T;T;T;T;T;T;D;T|T|D	0.82893|0.38722|0.91124	1.81;1.81;1.81;1.81;1.81;1.81;1.81;2.57;2.57;2.57;2.57;-1.66;1.03|1.12|-2.79	5.07|5.07|5.07	5.07|5.07|5.07	0.68467|0.68467|0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84982|0.84982|0.84982	0.5593|0.5593|0.5593	N|N|N	0.02985|0.02985|0.02985	-0.445|-0.445|-0.445	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D|D|.	0.67145|0.76494|.	0.996;0.948;0.989|0.999|.	D;D;D|D|.	0.75484|0.70935|.	0.986;0.953;0.972|0.971|.	D|D|D	0.88410|0.88410|0.88410	0.3021|0.3021|0.3021	10|9|7	0.87932|0.87932|0.87932	D|D|D	0|0|0	.|.|.	18.8407|18.8407|18.8407	0.92183|0.92183|0.92183	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	69;66;143|143|.	B4DVS7;A8K6Z3;O00506|B4DZ52|.	.;.;STK25_HUMAN|.|.	S|C|N	143;143;143;66;49;66;49;49;49;47;49;49;49;143|49|24	ENSP00000325748:A143S;ENSP00000384162:A143S;ENSP00000385687:A143S;ENSP00000384444:A66S;ENSP00000385541:A66S;ENSP00000444886:A49S;ENSP00000446008:A49S;ENSP00000399212:A49S;ENSP00000417020:A47S;ENSP00000403607:A49S;ENSP00000395104:A49S;ENSP00000404960:A49S;ENSP00000412617:A143S|ENSP00000403866:G49C|ENSP00000404469:K24N	ENSP00000325748:A143S|ENSP00000403866:G49C|ENSP00000404469:K24N	A|G|K	-|-|-	1|1|3	0|0|2	STK25|STK25|STK25	242088261|242088261|242088261	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.969000|0.969000|0.969000	0.65631|0.65631|0.65631	7.617000|7.617000|7.617000	0.83032|0.83032|0.83032	2.516000|2.516000|2.516000	0.84829|0.84829|0.84829	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|GGT|AAG		0.597	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374	Missense_Mutation	6	37	1	0	0.0215528	1	0.0221649	6	37				
HOXA7	3204	broad.mit.edu	37	7	27194841	27194841	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27194841C>T	ENST00000242159.3	-	2	513	c.380G>A	c.(379-381)gGa>gAa	p.G127E	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	127					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CCTGTCAGGTCCTGAGAACAG	0.617																																						ENST00000242159.3																			0				endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.e2-1		homeobox A7							70.0	68.0	68.0					7																	27194841		2203	4300	6503	SO:0001630	splice_region_variant	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27194841C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.380-1G>A	7.37:g.27194841C>T						HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	p.G127_splice	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			2	513	-			127					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Splice_Site	SNP	ENST00000242159.3	37	c.379_splice	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723699	0.48728	.	.	ENSG00000122592	ENST00000242159	D	0.95690	-3.78	5.0	5.0	0.66597	Homeodomain-related (1);	0.058076	0.64402	D	0.000002	D	0.96122	0.8736	M	0.82193	2.58	0.58432	D	0.999999	B	0.24920	0.114	B	0.33799	0.17	D	0.95324	0.8423	10	0.72032	D	0.01	.	18.287	0.90118	0.0:1.0:0.0:0.0	.	127	P31268	HXA7_HUMAN	E	127	ENSP00000242159:G127E	ENSP00000242159:G127E	G	-	2	0	HOXA7	27161366	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.771000	0.62318	2.329000	0.79093	0.462000	0.41574	GGA		0.617	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1		Missense_Mutation	34	35	0	0	0	1	0	34	35				
ERN1	2081	broad.mit.edu	37	17	62144287	62144287	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62144287A>T	ENST00000433197.3	-	8	681	c.586T>A	c.(586-588)Tcc>Acc	p.S196T	ERN1_ENST00000577567.1_5'Flank	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAAAGTGGGACATCTCTGTA	0.512																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(586-588)Tcc>Acc		endoplasmic reticulum to nucleus signaling 1							63.0	62.0	62.0					17																	62144287		2156	4263	6419	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62144287A>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.586T>A	17.37:g.62144287A>T	ENSP00000401445:p.Ser196Thr						p.S196T	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			8	681	-			196						Missense_Mutation	SNP	ENST00000433197.3	37	c.586T>A	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682529	0.47991	.	.	ENSG00000178607	ENST00000433197	T	0.19938	2.11	5.57	5.57	0.84162	Quinonprotein alcohol dehydrogenase-like (2);	0.051897	0.85682	D	0.000000	T	0.22742	0.0549	M	0.69823	2.125	0.46701	D	0.999166	B	0.29037	0.231	B	0.27608	0.081	T	0.04333	-1.0959	10	0.13853	T	0.58	-35.3923	11.6942	0.51534	0.8523:0.1477:0.0:0.0	.	196	O75460	ERN1_HUMAN	T	196	ENSP00000401445:S196T	ENSP00000401445:S196T	S	-	1	0	ERN1	59498019	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.082000	0.64450	2.117000	0.64856	0.459000	0.35465	TCC		0.512	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		6	15	0	0	0	1	0	6	15				
QRSL1	55278	broad.mit.edu	37	6	107113856	107113856	+	Silent	SNP	C	C	A	rs201966755		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107113856C>A	ENST00000369046.4	+	11	1670	c.1566C>A	c.(1564-1566)gcC>gcA	p.A522A		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AAAAGTTAGCCTCTGTCTCTC	0.393																																					NSCLC(192;2127 2142 11668 26277 49545)	ENST00000369046.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(1564-1566)gcC>gcA		glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1							40.0	38.0	39.0					6																	107113856		2202	4300	6502	SO:0001819	synonymous_variant	55278				translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	g.chr6:107113856C>A	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1566C>A	6.37:g.107113856C>A							p.A522A	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)	11	1670	+	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	522						Silent	SNP	ENST00000369046.4	37	c.1566C>A	CCDS5057.1																																																																																				0.393	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		15	26	1	0	5.01169e-05	1	5.58345e-05	15	26				
SLC22A10	387775	broad.mit.edu	37	11	63064818	63064818	+	Missense_Mutation	SNP	G	G	A	rs187954369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63064818G>A	ENST00000332793.6	+	3	552	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC22A10_ENST00000544661.1_Missense_Mutation_p.A29T|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	184						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	GCTCCAGCTTGCCATTACTGA	0.413																																						ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(85-87)Gcc>Acc		solute carrier family 22, member 10							168.0	168.0	168.0					11																	63064818		2076	4237	6313	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63064818G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.550G>A	11.37:g.63064818G>A	ENSP00000327569:p.Ala184Thr					SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A184T	p.A29T			Q63ZE4	S22AA_HUMAN			4	513	+			184					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.85G>A	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633048	0.29068	.	.	ENSG00000184999	ENST00000544661;ENST00000332793	T;T	0.74842	-0.88;-0.88	3.26	0.23	0.15372	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.669254	0.13457	N	0.386456	T	0.67515	0.2901	L	0.46885	1.475	0.09310	N	0.999991	B	0.33755	0.424	B	0.43916	0.436	T	0.56811	-0.7917	10	0.29301	T	0.29	.	3.0354	0.06121	0.3454:0.0:0.4637:0.1909	.	184	Q63ZE4	S22AA_HUMAN	T	29;184	ENSP00000445667:A29T;ENSP00000327569:A184T	ENSP00000327569:A184T	A	+	1	0	SLC22A10	62821394	0.495000	0.26051	0.000000	0.03702	0.036000	0.12997	1.990000	0.40717	-0.032000	0.13758	-0.591000	0.04113	GCC		0.413	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		39	63	0	0	0	1	0	39	63				
KIAA1324	57535	broad.mit.edu	37	1	109707189	109707189	+	Missense_Mutation	SNP	C	C	T	rs201148132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707189C>T	ENST00000369939.3	+	3	526	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.R115C	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	115					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGCTGAGGGCCGCTACTCCCT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17815	0.0		0.001	False		,,,				2504	0.0					ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(343-345)Cgc>Tgc		KIAA1324		C	CYS/ARG	0,4406		0,0,2203	123.0	115.0	118.0		343	6.0	1.0	1		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1324	NM_020775.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	115/1014	109707189	1,13005	2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109707189C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.343C>T	1.37:g.109707189C>T	ENSP00000358955:p.Arg115Cys					KIAA1324_ENST00000529753.1_Missense_Mutation_p.R115C	p.R115C	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	3	526	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	115					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.343C>T	CCDS794.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.5	4.924288	0.92319	0.0	1.16E-4	ENSG00000116299	ENST00000531664;ENST00000534476;ENST00000526264;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T;T;T	0.41758	0.99;2.52;0.99;1.52;1.52;1.52	6.04	6.04	0.98038	.	0.080242	0.64402	D	0.000004	T	0.34221	0.0890	N	0.22421	0.69	0.43467	D	0.995675	B;D;B;B	0.76494	0.021;0.999;0.021;0.021	B;P;B;B	0.56700	0.006;0.804;0.004;0.004	T	0.19943	-1.0290	10	0.66056	D	0.02	-29.169	13.2661	0.60135	0.2568:0.7431:0.0:0.0	.	115;115;115;115	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	C	115	ENSP00000431349:R115C;ENSP00000432164:R115C;ENSP00000435066:R115C;ENSP00000358955:R115C;ENSP00000393964:R115C;ENSP00000434595:R115C	ENSP00000358955:R115C	R	+	1	0	KIAA1324	109508712	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.504000	0.66968	2.873000	0.98535	0.561000	0.74099	CGC		0.587	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		8	114	0	0	0	1	0	8	114				
EML5	161436	broad.mit.edu	37	14	89083115	89083115	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89083115G>T	ENST00000380664.5	-	40	5726	c.5727C>A	c.(5725-5727)gaC>gaA	p.D1909E	EML5_ENST00000554922.1_Missense_Mutation_p.D1917E|EML5_ENST00000352093.5_Missense_Mutation_p.D1871E			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1909						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATGCCAAAGTCATCTCCTG	0.373																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5749-5751)gaC>gaA		echinoderm microtubule associated protein like 5							78.0	73.0	75.0					14																	89083115		1902	4121	6023	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89083115G>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5727C>A	14.37:g.89083115G>T	ENSP00000370039:p.Asp1909Glu					EML5_ENST00000380664.5_Missense_Mutation_p.D1909E|EML5_ENST00000352093.5_Missense_Mutation_p.D1871E	p.D1917E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			42	5999	-			1909					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5751C>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820362	0.71028	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.17054	2.3;2.3;2.3	5.26	3.42	0.39159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.83312	2.635	0.42816	D	0.993979	D	0.89917	1.0	D	0.85130	0.997	T	0.30966	-0.9960	10	0.51188	T	0.08	-16.0926	10.3934	0.44185	0.2332:0.0:0.7668:0.0	.	1909	Q05BV3	EMAL5_HUMAN	E	1917;1871;1909	ENSP00000451998:D1917E;ENSP00000298315:D1871E;ENSP00000370039:D1909E	ENSP00000298315:D1871E	D	-	3	2	EML5	88152868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.939000	0.48995	0.703000	0.31848	0.655000	0.94253	GAC		0.373	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			10	25	1	0	4.68919e-08	1	5.58064e-08	10	25				
SLC1A2	6506	broad.mit.edu	37	11	35302462	35302462	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35302462C>T	ENST00000278379.3	-	9	1655	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	SLC1A2_ENST00000479543.1_5'UTR|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G458D	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	458					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TGTTGGCAGGCCCACGGCTGT	0.617																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1372-1374)gGc>gAc		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						81.0	81.0	81.0					11																	35302462		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35302462C>T	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1373G>A	11.37:g.35302462C>T	ENSP00000278379:p.Gly458Asp					SLC1A2_ENST00000606205.1_Missense_Mutation_p.G458D|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G449D	p.G458D	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		9	1655	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	458					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1373G>A	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069539	0.93950	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.64803	-0.12;-0.12;-0.12	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	M	0.86343	2.81	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.66196	0.942;0.914	T	0.83192	-0.0083	10	0.48119	T	0.1	-16.6667	19.2381	0.93869	0.0:1.0:0.0:0.0	.	458;458	B4DQE9;P43004	.;EAA2_HUMAN	D	458;449;449	ENSP00000278379:G458D;ENSP00000379099:G449D;ENSP00000379102:G449D	ENSP00000278379:G458D	G	-	2	0	SLC1A2	35259038	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	7.818000	0.86416	2.550000	0.86006	0.555000	0.69702	GGC		0.617	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		31	37	0	0	0	1	0	31	37				
MAN2A2	4122	broad.mit.edu	37	15	91453772	91453772	+	Missense_Mutation	SNP	G	G	A	rs373291682		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91453772G>A	ENST00000559717.1	+	11	2078	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R48H|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R540H|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	540					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCACGCTCGCCGCTCTGGT	0.627																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1618-1620)cGc>cAc		mannosidase, alpha, class 2A, member 2		G	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	45.0	41.0	42.0		1619	5.4	1.0	15		42	0,8596		0,0,4298	no	missense	MAN2A2	NM_006122.2	29	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	540/1151	91453772	1,12991	2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91453772G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1619G>A	15.37:g.91453772G>A	ENSP00000452948:p.Arg540His					MAN2A2_ENST00000559717.1_Missense_Mutation_p.R540H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R48H	p.R540H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		10	1637	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		540					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1619G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617337	0.46736	2.27E-4	0.0	ENSG00000196547	ENST00000360468;ENST00000431652	T;D	0.83075	-1.17;-1.68	5.38	5.38	0.77491	Glycoside hydrolase, family 38, central domain (2);	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	L	0.43757	1.38	0.80722	D	1	P;B;P;B	0.37083	0.581;0.244;0.5;0.076	B;B;B;B	0.36922	0.236;0.234;0.042;0.07	T	0.77169	-0.2686	10	0.28530	T	0.3	-30.027	19.1914	0.93667	0.0:0.0:1.0:0.0	.	48;168;540;540	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	H	540;48	ENSP00000353655:R540H;ENSP00000388221:R48H	ENSP00000353655:R540H	R	+	2	0	MAN2A2	89254776	1.000000	0.71417	0.990000	0.47175	0.199000	0.23934	9.428000	0.97476	2.550000	0.86006	0.306000	0.20318	CGC		0.627	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		17	28	0	0	0	1	0	17	28				
WNT3A	89780	broad.mit.edu	37	1	228210547	228210547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228210547G>A	ENST00000284523.1	+	2	329	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R84H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	84					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCCGCGGCCGCCGGTGGAAC	0.637																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(250-252)cGc>cAc		wingless-type MMTV integration site family, member 3A							43.0	45.0	44.0					1																	228210547		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210547G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.251G>A	1.37:g.228210547G>A	ENSP00000284523:p.Arg84His					WNT3A_ENST00000366753.2_Missense_Mutation_p.R84H	p.R84H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	329	+		Prostate(94;0.0405)	84					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.251G>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176273	0.78564	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76448	-1.02;-1.02	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.921	D	0.84277	0.0492	10	0.37606	T	0.19	.	16.9039	0.86120	0.0:0.0:1.0:0.0	.	84;84	P56704;Q3SY79	WNT3A_HUMAN;.	H	84	ENSP00000284523:R84H;ENSP00000355715:R84H	ENSP00000284523:R84H	R	+	2	0	WNT3A	226277170	1.000000	0.71417	0.991000	0.47740	0.552000	0.35366	9.499000	0.97975	2.311000	0.77944	0.586000	0.80456	CGC		0.637	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		30	32	0	0	0	1	0	30	32				
C12orf29	91298	broad.mit.edu	37	12	88433974	88433974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88433974C>T	ENST00000356891.3	+	2	343	c.140C>T	c.(139-141)gCa>gTa	p.A47V	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	47					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						GCATTAGATGCAGATATATAC	0.313																																						ENST00000356891.3																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(139-141)gCa>gTa		chromosome 12 open reading frame 29							77.0	79.0	79.0					12																	88433974		2203	4298	6501	SO:0001583	missense	91298							g.chr12:88433974C>T	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.140C>T	12.37:g.88433974C>T	ENSP00000349358:p.Ala47Val					C12orf29_ENST00000548757.2_3'UTR	p.A47V	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN			2	343	+			47					Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Missense_Mutation	SNP	ENST00000356891.3	37	c.140C>T	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872391	0.72180	.	.	ENSG00000133641	ENST00000356891	T	0.38077	1.16	5.3	5.3	0.74995	.	.	.	.	.	T	0.34454	0.0898	L	0.44542	1.39	0.54753	D	0.999985	B	0.28419	0.211	B	0.24974	0.057	T	0.14643	-1.0465	9	0.59425	D	0.04	.	17.495	0.87715	0.0:1.0:0.0:0.0	.	47	Q8N999	CL029_HUMAN	V	47	ENSP00000349358:A47V	ENSP00000349358:A47V	A	+	2	0	C12orf29	86958105	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.575000	0.74018	2.631000	0.89168	0.563000	0.77884	GCA		0.313	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		6	82	0	0	0	1	0	6	82				
KDM4D	55693	broad.mit.edu	37	11	94730996	94730996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94730996C>T	ENST00000335080.5	+	3	1292	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	KDM4D_ENST00000536741.1_Missense_Mutation_p.L154F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	154	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACAATGGAATCTTGGGCACCT	0.438																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(460-462)Ctt>Ttt		lysine (K)-specific demethylase 4D							95.0	94.0	95.0					11																	94730996		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94730996C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.460C>T	11.37:g.94730996C>T	ENSP00000334181:p.Leu154Phe					KDM4D_ENST00000536741.1_Missense_Mutation_p.L154F	p.L154F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	1292	+			154			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.460C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923323	0.52653	.	.	ENSG00000186280	ENST00000335080	T	0.72051	-0.62	3.91	1.97	0.26223	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.185278	0.34555	U	0.003864	T	0.79347	0.4430	M	0.80508	2.5	0.28924	N	0.891936	D	0.76494	0.999	D	0.64321	0.924	T	0.72043	-0.4409	10	0.87932	D	0	-17.4045	6.2262	0.20710	0.3633:0.4442:0.1925:0.0	.	154	Q6B0I6	KDM4D_HUMAN	F	154	ENSP00000334181:L154F	ENSP00000334181:L154F	L	+	1	0	KDM4D	94370644	1.000000	0.71417	0.776000	0.31678	0.802000	0.45316	4.327000	0.59247	0.580000	0.29522	0.563000	0.77884	CTT		0.438	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		40	37	0	0	0	1	0	40	37				
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	rs138821621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107450509G>A	ENST00000409382.3	-	3	1647	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	346					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S346L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393																																						ENST00000409382.3																			2	Substitution - Missense(2)	p.S346L(2)	urinary_tract(1)|large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(1036-1038)tCg>tTg		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2		G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	217.0	204.0	209.0		1037,1037,1037	5.9	1.0	2	dbSNP_134	209	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	346/530,346/467,346/530	107450509	1,13005	2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107450509G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1037C>T	2.37:g.107450509G>A	ENSP00000386942:p.Ser346Leu					ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L	p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			3	1647	-			346					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1037C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100472	0.94245	0.0	1.16E-4	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31769	1.48;1.48;1.48	5.88	5.88	0.94601	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.87827	2.91	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.65140	0.93;0.932	T	0.66810	-0.5829	10	0.72032	D	0.01	-39.462	19.2322	0.93845	0.0:0.0:1.0:0.0	.	346;346	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	346	ENSP00000355273:S346L;ENSP00000386942:S346L;ENSP00000387332:S346L	ENSP00000355273:S346L	S	-	2	0	ST6GAL2	106816941	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	TCG		0.393	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		33	81	0	0	0	1	0	33	81				
FBXL3	26224	broad.mit.edu	37	13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(751-753)cGa>cAa		F-box and leucine-rich repeat protein 3							110.0	105.0	107.0					13																	77581815		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581815C>T	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.752G>A	13.37:g.77581815C>T	ENSP00000347834:p.Arg251Gln					FBXL3_ENST00000477982.1_Intron	p.R251Q	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1076	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	251					B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.752G>A	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672518	0.47781	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.52526	0.66;0.67	6.06	6.06	0.98353	.	0.053607	0.64402	D	0.000001	T	0.28797	0.0714	N	0.14661	0.345	0.45607	D	0.998544	P	0.37158	0.585	B	0.21917	0.037	T	0.12915	-1.0529	10	0.13470	T	0.59	-8.7962	20.6208	0.99490	0.0:1.0:0.0:0.0	.	251	Q9UKT7	FBXL3_HUMAN	Q	251;203	ENSP00000347834:R251Q;ENSP00000412183:R203Q	ENSP00000347834:R251Q	R	-	2	0	FBXL3	76479816	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.745000	0.68672	2.882000	0.98803	0.655000	0.94253	CGA		0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			7	61	0	0	0	1	0	7	61				
SYNE2	23224	broad.mit.edu	37	14	64630256	64630256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64630256C>T	ENST00000344113.4	+	89	16648	c.16436C>T	c.(16435-16437)gCt>gTt	p.A5479V	SYNE2_ENST00000357395.3_Missense_Mutation_p.A1864V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5479V|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5396V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1864V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A2113V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5479					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGGGCTGCTTATTTGGAA	0.473																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(5590-5592)gCt>gTt		spectrin repeat containing, nuclear envelope 2							60.0	60.0	60.0					14																	64630256		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64630256C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16436C>T	14.37:g.64630256C>T	ENSP00000341781:p.Ala5479Val					SYNE2_ENST00000555002.1_Missense_Mutation_p.A2113V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1864V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5479V|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5396V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5479V	p.A1864V			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	90	16735	+			5479					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.5591C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898349	0.72639	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56103	0.71;4.01;0.71;0.48;4.06;4.01	6.08	4.24	0.50183	.	0.818246	0.10680	N	0.646529	T	0.45677	0.1354	L	0.40543	1.245	0.29488	N	0.855815	B;B;B;P	0.34800	0.059;0.167;0.228;0.469	B;B;B;B	0.36289	0.097;0.032;0.098;0.221	T	0.40001	-0.9586	10	0.40728	T	0.16	.	9.8735	0.41189	0.1383:0.7922:0.0:0.0695	.	1864;5396;5479;5479	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	V	5479;1864;5479;5396;5402;2113;1864	ENSP00000350719:A5479V;ENSP00000349969:A1864V;ENSP00000341781:A5479V;ENSP00000452570:A5396V;ENSP00000450831:A2113V;ENSP00000378249:A1864V	ENSP00000261678:A5402V	A	+	2	0	SYNE2	63700009	0.116000	0.22171	0.084000	0.20598	0.928000	0.56348	1.582000	0.36568	0.874000	0.35823	0.655000	0.94253	GCT		0.473	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		15	31	0	0	0	1	0	15	31				
TOPORS	10210	broad.mit.edu	37	9	32542146	32542146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32542146C>T	ENST00000360538.2	-	3	2493	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	TOPORS_ENST00000379858.1_Missense_Mutation_p.G728R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	793	Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGTTTCCCTCCAGGCTTTTCA	0.453																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2377-2379)Gga>Aga		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							112.0	110.0	111.0					9																	32542146		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542146C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2377G>A	9.37:g.32542146C>T	ENSP00000353735:p.Gly793Arg					TOPORS_ENST00000379858.1_Missense_Mutation_p.G728R	p.G793R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2493	-			793			Interaction with TOP1.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2377G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007621	0.54361	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.21543	2.0;2.04	5.91	5.91	0.95273	.	0.000000	0.49305	D	0.000144	T	0.28067	0.0692	L	0.27053	0.805	0.34757	D	0.732358	D	0.76494	0.999	D	0.64595	0.927	T	0.26430	-1.0103	10	0.40728	T	0.16	-25.248	9.158	0.37005	0.0:0.8456:0.0:0.1544	.	793	Q9NS56	TOPRS_HUMAN	R	793;728	ENSP00000353735:G793R;ENSP00000369187:G728R	ENSP00000353735:G793R	G	-	1	0	TOPORS	32532146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.667000	0.46808	2.803000	0.96430	0.650000	0.86243	GGA		0.453	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		33	64	0	0	0	1	0	33	64				
MMP9	4318	broad.mit.edu	37	20	44640806	44640806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44640806C>T	ENST00000372330.3	+	7	1047	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	343	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GGCAACTCGGCGGGGGAGCTG	0.632																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1027-1029)gCg>gTg		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						57.0	67.0	63.0					20																	44640806		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44640806C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1028C>T	20.37:g.44640806C>T	ENSP00000361405:p.Ala343Val						p.A343V	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			7	1047	+		Myeloproliferative disorder(115;0.0122)	343			Fibronectin type-II 3.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1028C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327105	0.60743	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.09723	2.95	4.89	3.88	0.44766	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.290159	0.37483	N	0.002065	T	0.08088	0.0202	L	0.36672	1.1	0.35114	D	0.766405	D	0.55605	0.972	B	0.38020	0.263	T	0.16897	-1.0387	10	0.62326	D	0.03	.	10.2484	0.43354	0.3452:0.6548:0.0:0.0	.	343	P14780	MMP9_HUMAN	V	343;6	ENSP00000361405:A343V	ENSP00000361405:A343V	A	+	2	0	MMP9	44074213	0.999000	0.42202	0.452000	0.26994	0.429000	0.31625	6.573000	0.74009	2.553000	0.86117	0.561000	0.74099	GCG		0.632	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			32	69	0	0	0	1	0	32	69				
DUPD1	338599	broad.mit.edu	37	10	76818215	76818215	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76818215G>A	ENST00000338487.5	-	1	57	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	20					protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCGGCGACAGCCTCTTGGCA	0.542																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(58-60)Ctg>Ttg		dual specificity phosphatase and pro isomerase domain containing 1							86.0	80.0	82.0					10																	76818215		2203	4300	6503	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76818215G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.58C>T	10.37:g.76818215G>A							p.L20L	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			1	57	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		20					B2RP93	Silent	SNP	ENST00000338487.5	37	c.58C>T	CCDS31223.1																																																																																				0.542	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		23	29	0	0	0	1	0	23	29				
CHCHD2	51142	broad.mit.edu	37	7	56171950	56171950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171950G>A	ENST00000395422.3	-	2	431	c.269C>T	c.(268-270)gCt>gTt	p.A90V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	90						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGCAGGCTCAGCATTACTTCC	0.547																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(268-270)gCt>gTt		coiled-coil-helix-coiled-coil-helix domain containing 2							74.0	71.0	72.0					7																	56171950		2203	4300	6503	SO:0001583	missense	51142					mitochondrion		g.chr7:56171950G>A	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.269C>T	7.37:g.56171950G>A	ENSP00000378812:p.Ala90Val						p.A90V	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	431	-	Breast(14;0.214)		90					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.269C>T	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423022	0.43020	.	.	ENSG00000106153	ENST00000395422	T	0.50813	0.73	5.47	4.57	0.56435	.	0.223556	0.37437	N	0.002095	T	0.56156	0.1966	M	0.82823	2.61	0.50467	D	0.999877	P	0.35124	0.485	B	0.38327	0.271	T	0.62020	-0.6942	10	0.56958	D	0.05	.	15.1634	0.72801	0.0:0.1418:0.8582:0.0	.	90	Q9Y6H1	CHCH2_HUMAN	V	90	ENSP00000378812:A90V	ENSP00000378812:A90V	A	-	2	0	CHCHD2	56139444	0.990000	0.36364	0.770000	0.31555	0.032000	0.12392	6.165000	0.71891	1.273000	0.44346	0.655000	0.94253	GCT		0.547	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		29	88	0	0	0	1	0	29	88				
ZNF75D	7626	broad.mit.edu	37	X	134421742	134421742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421742G>T	ENST00000370766.3	-	7	3569	c.860C>A	c.(859-861)cCt>cAt	p.P287H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P192H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	287	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACAGATATAGGATGATCATT	0.363																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(859-861)cCt>cAt		zinc finger protein 75D							86.0	73.0	77.0					X																	134421742		2203	4299	6502	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421742G>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.860C>A	X.37:g.134421742G>T	ENSP00000359802:p.Pro287His					ZNF75D_ENST00000370764.1_Missense_Mutation_p.P192H|ZNF75D_ENST00000494295.1_Intron	p.P287H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			7	3569	-			287			KRAB.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.860C>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680683	0.29872	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06849	3.25;3.25	2.94	1.14	0.20703	Krueppel-associated box (2);	0.244426	0.21511	N	0.073369	T	0.09642	0.0237	M	0.73962	2.25	0.09310	N	1	D;D	0.58620	0.983;0.983	B;B	0.43783	0.431;0.431	T	0.25117	-1.0141	10	0.22109	T	0.4	.	4.6279	0.12488	0.3246:0.0:0.6754:0.0	.	287;192	P51815;A6NK62	ZN75D_HUMAN;.	H	287;192	ENSP00000359802:P287H;ENSP00000359800:P192H	ENSP00000359800:P192H	P	-	2	0	ZNF75D	134249408	0.002000	0.14202	0.000000	0.03702	0.040000	0.13550	0.641000	0.24720	0.172000	0.19760	0.415000	0.27848	CCT		0.363	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		9	94	1	0	5.4927e-09	1	6.6252e-09	9	94				
FAM135A	57579	broad.mit.edu	37	6	71236045	71236045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71236045G>T	ENST00000418814.2	+	15	3872	c.3258G>T	c.(3256-3258)gaG>gaT	p.E1086D	FAM135A_ENST00000370479.3_Missense_Mutation_p.E873D|FAM135A_ENST00000361499.3_Missense_Mutation_p.E890D|FAM135A_ENST00000457062.2_Missense_Mutation_p.E873D|FAM135A_ENST00000505868.1_Missense_Mutation_p.E1086D|FAM135A_ENST00000505769.1_Missense_Mutation_p.E666D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1086										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAGGATGAGGAGGAAGAGC	0.393																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3256-3258)gaG>gaT		family with sequence similarity 135, member A							57.0	61.0	59.0					6																	71236045		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71236045G>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3258G>T	6.37:g.71236045G>T	ENSP00000410768:p.Glu1086Asp					FAM135A_ENST00000505868.1_Missense_Mutation_p.E1086D|FAM135A_ENST00000505769.1_Missense_Mutation_p.E666D|FAM135A_ENST00000457062.2_Missense_Mutation_p.E873D|FAM135A_ENST00000370479.3_Missense_Mutation_p.E873D|FAM135A_ENST00000361499.3_Missense_Mutation_p.E890D	p.E1086D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	3872	+			1086					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3258G>T	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564035	0.45694	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.23754	2.22;2.21;1.89;2.21;2.21;2.21	5.78	2.0	0.26442	.	0.196800	0.53938	D	0.000055	T	0.12561	0.0305	L	0.39020	1.185	0.32266	N	0.56948	B;B;D;B	0.67145	0.017;0.0;0.996;0.019	B;B;P;B	0.59115	0.02;0.005;0.852;0.047	T	0.06127	-1.0844	10	0.24483	T	0.36	.	2.2532	0.04049	0.3301:0.116:0.4347:0.1192	.	1086;1086;890;873	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	D	1086;873;666;873;890;1086	ENSP00000410768:E1086D;ENSP00000359510:E873D;ENSP00000423785:E666D;ENSP00000409201:E873D;ENSP00000354913:E890D;ENSP00000423307:E1086D	ENSP00000354913:E890D	E	+	3	2	FAM135A	71292766	0.357000	0.24938	1.000000	0.80357	0.995000	0.86356	-0.465000	0.06680	0.350000	0.24002	0.655000	0.94253	GAG		0.393	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		7	38	1	0	8.12818e-05	1	8.99451e-05	7	38				
ZNF276	92822	broad.mit.edu	37	16	89799811	89799811	+	Missense_Mutation	SNP	G	G	A	rs148047906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89799811G>A	ENST00000443381.2	+	7	1368	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	ZNF276_ENST00000568064.1_Missense_Mutation_p.R332H|ZNF276_ENST00000289816.5_Missense_Mutation_p.R349H|ZNF276_ENST00000446326.2_Missense_Mutation_p.R210H	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAGAAGCTTCGTTGTGAGAGG	0.562																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1045-1047)cGt>cAt		zinc finger protein 276		G	HIS/ARG,HIS/ARG	2,4394	4.2+/-10.8	0,2,2196	120.0	132.0	128.0		1271,1046	2.5	0.1	16	dbSNP_134	128	0,8600		0,0,4300	no	missense,missense	ZNF276	NM_001113525.1,NM_152287.3	29,29	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	possibly-damaging,possibly-damaging	424/615,349/540	89799811	2,12994	2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799811G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1271G>A	16.37:g.89799811G>A	ENSP00000415836:p.Arg424His					ZNF276_ENST00000446326.2_Missense_Mutation_p.R210H|ZNF276_ENST00000443381.2_Missense_Mutation_p.R424H|ZNF276_ENST00000568064.1_Missense_Mutation_p.R332H	p.R349H	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	1358	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	424					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1046G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326667	0.60743	4.55E-4	0.0	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06768	3.26;3.26;3.31	5.88	2.53	0.30540	.	0.110142	0.64402	N	0.000020	T	0.04003	0.0112	N	0.14661	0.345	0.32273	N	0.568577	B;B;B;B	0.25007	0.033;0.033;0.071;0.116	B;B;B;B	0.16722	0.005;0.005;0.007;0.016	T	0.14227	-1.0480	10	0.87932	D	0	-28.036	2.1992	0.03918	0.3429:0.0:0.4202:0.2369	.	262;424;210;349	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	H	210;349;424	ENSP00000415999:R210H;ENSP00000289816:R349H;ENSP00000415836:R424H	ENSP00000289816:R349H	R	+	2	0	ZNF276	88327312	0.994000	0.37717	0.125000	0.21846	0.351000	0.29236	3.961000	0.56759	0.812000	0.34326	0.655000	0.94253	CGT		0.562	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		8	151	0	0	0	1	0	8	151				
CACNA1G	8913	broad.mit.edu	37	17	48655621	48655621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655621G>A	ENST00000359106.5	+	9	1997	c.1997G>A	c.(1996-1998)aGc>aAc	p.S666N	CACNA1G_ENST00000510366.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S666N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	666					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCCAGACAGCTGCCCCTAC	0.597																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1996-1998)aGc>aAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						36.0	42.0	40.0					17																	48655621		1977	4151	6128	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655621G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1997G>A	17.37:g.48655621G>A	ENSP00000352011:p.Ser666Asn					CACNA1G_ENST00000515765.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S666N	p.S666N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2369	+	Breast(11;6.7e-17)		666					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.1997G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	10.85	1.465867	0.26335	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96940	-4.0;-4.01;-4.18;-3.97;-4.02;-4.02;-4.02;-4.12;-4.1;-4.11;-4.12;-3.98;-3.99;-4.06;-3.99;-3.96;-4.02;-3.99;-3.98;-4.03;-4.02;-4.0;-4.03;-3.98;-4.03;-4.03	5.13	2.93	0.34026	.	0.280203	0.44483	N	0.000448	D	0.95198	0.8443	N	0.26130	0.795	0.35030	D	0.758663	B;B;B;D;B;B;D;B;B;B;B;B;B;B;B;B;D;P;B;B;B;B;B;B;B;D	0.63046	0.003;0.004;0.002;0.985;0.005;0.004;0.992;0.004;0.004;0.009;0.004;0.005;0.009;0.003;0.004;0.001;0.962;0.814;0.001;0.004;0.002;0.002;0.002;0.001;0.001;0.978	B;B;B;D;B;B;D;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;P	0.70227	0.008;0.008;0.012;0.968;0.008;0.003;0.958;0.008;0.012;0.012;0.006;0.012;0.008;0.008;0.012;0.003;0.627;0.393;0.005;0.012;0.006;0.005;0.006;0.005;0.001;0.794	D	0.94878	0.8036	10	0.41790	T	0.15	.	8.1624	0.31207	0.3035:0.0:0.6965:0.0	.	666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666;666	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	666	ENSP00000353990:S666N;ENSP00000339302:S666N;ENSP00000392390:S666N;ENSP00000347078:S666N;ENSP00000409759:S666N;ENSP00000425522:S666N;ENSP00000426261:S666N;ENSP00000425451:S666N;ENSP00000422407:S666N;ENSP00000426814:S666N;ENSP00000427238:S666N;ENSP00000423112:S666N;ENSP00000420918:S666N;ENSP00000426172:S666N;ENSP00000423045:S666N;ENSP00000427173:S666N;ENSP00000426098:S666N;ENSP00000425698:S666N;ENSP00000426232:S666N;ENSP00000423317:S666N;ENSP00000350979:S666N;ENSP00000352011:S666N;ENSP00000414388:S666N;ENSP00000423155:S666N;ENSP00000422268:S666N;ENSP00000421518:S666N	ENSP00000339302:S666N	S	+	2	0	CACNA1G	46010620	0.989000	0.36119	1.000000	0.80357	0.964000	0.63967	0.433000	0.21477	1.162000	0.42619	0.655000	0.94253	AGC		0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		18	40	0	0	0	1	0	18	40				
LRRN2	10446	broad.mit.edu	37	1	204587428	204587428	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587428G>A	ENST00000367175.1	-	1	3905	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	LRRN2_ENST00000367177.3_Missense_Mutation_p.R565W|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.R565W|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	565					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCTGGCCCCGGAGGGAGGAG	0.657																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1693-1695)Cgg>Tgg		leucine rich repeat neuronal 2							66.0	67.0	67.0					1																	204587428		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587428G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1693C>T	1.37:g.204587428G>A	ENSP00000356143:p.Arg565Trp					LRRN2_ENST00000367176.3_Missense_Mutation_p.R565W|LRRN2_ENST00000367177.3_Missense_Mutation_p.R565W	p.R565W			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3905	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		565					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1693C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306437	0.40795	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.04603	3.59;3.59;3.59	5.36	5.36	0.76844	.	0.225800	0.22603	N	0.057931	T	0.10766	0.0263	L	0.44542	1.39	0.27915	N	0.938464	D	0.76494	0.999	P	0.59546	0.859	T	0.06991	-1.0796	10	0.72032	D	0.01	.	7.8618	0.29514	0.0862:0.1644:0.7495:0.0	.	565	O75325	LRRN2_HUMAN	W	565	ENSP00000356144:R565W;ENSP00000356145:R565W;ENSP00000356143:R565W	ENSP00000356143:R565W	R	-	1	2	LRRN2	202854051	0.079000	0.21365	0.645000	0.29479	0.872000	0.50106	1.968000	0.40500	2.511000	0.84671	0.543000	0.68304	CGG		0.657	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		27	39	0	0	0	1	0	27	39				
RNF165	494470	broad.mit.edu	37	18	44027530	44027530	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027530C>A	ENST00000269439.7	+	4	541	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	RNF165_ENST00000543885.1_5'UTR	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	164							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTGCAGGGATCTCAGTGTGGA	0.532																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(490-492)Ctc>Atc		ring finger protein 165							175.0	151.0	159.0					18																	44027530		2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44027530C>A	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.490C>A	18.37:g.44027530C>A	ENSP00000269439:p.Leu164Ile					RNF165_ENST00000543885.1_5'UTR	p.L164I	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	4	541	+			164					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.490C>A	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821975	0.90873	.	.	ENSG00000141622	ENST00000269439	T	0.33865	1.39	5.74	5.74	0.90152	.	0.139668	0.49305	D	0.000158	T	0.32615	0.0835	L	0.49350	1.555	0.80722	D	1	P	0.37061	0.58	B	0.28232	0.087	T	0.07578	-1.0765	10	0.33940	T	0.23	-8.091	18.0995	0.89501	0.0:1.0:0.0:0.0	.	164	Q6ZSG1	RN165_HUMAN	I	164	ENSP00000269439:L164I	ENSP00000269439:L164I	L	+	1	0	RNF165	42281528	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.037000	0.70956	2.712000	0.92718	0.561000	0.74099	CTC		0.532	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		33	65	1	0	6.97489e-18	1	9.07097e-18	33	65				
TTC4	7268	broad.mit.edu	37	1	55188406	55188406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55188406G>T	ENST00000371281.3	+	5	615	c.528G>T	c.(526-528)gaG>gaT	p.E176D	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	176										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGTGTGATGAGGGACTGCAAA	0.468																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(526-528)gaG>gaT		tetratricopeptide repeat domain 4							143.0	136.0	139.0					1																	55188406		2203	4300	6503	SO:0001583	missense	7268						binding	g.chr1:55188406G>T		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.528G>T	1.37:g.55188406G>T	ENSP00000360329:p.Glu176Asp					TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	p.E176D	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			5	615	+			176					Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.528G>T	CCDS596.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.337988	0.41398	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.15834	2.39	5.42	1.34	0.21922	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.17408	0.0418	M	0.74546	2.27	0.51767	D	0.999934	B;P	0.35328	0.209;0.495	B;B	0.32533	0.055;0.147	T	0.03651	-1.1016	9	0.27785	T	0.31	-22.2764	8.2266	0.31572	0.4105:0.0:0.5895:0.0	.	176;187	O95801;Q5TA95	TTC4_HUMAN;.	D	176;187	ENSP00000360329:E176D	ENSP00000360329:E176D	E	+	3	2	TTC4	54960994	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	0.878000	0.28126	0.053000	0.16036	0.460000	0.39030	GAG		0.468	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		6	120	1	0	4.096e-09	1	4.95403e-09	6	120				
HMGCS2	3158	broad.mit.edu	37	1	120306897	120306897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120306897C>A	ENST00000369406.3	-	2	506	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	HMGCS2_ENST00000544913.2_Missense_Mutation_p.G153C|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	153					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCAGTATTGCCTGAATCCTGG	0.517																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(457-459)Ggc>Tgc		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							104.0	95.0	98.0					1																	120306897		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120306897C>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.457G>T	1.37:g.120306897C>A	ENSP00000358414:p.Gly153Cys					HMGCS2_ENST00000544913.2_Missense_Mutation_p.G153C|HMGCS2_ENST00000476640.1_5'UTR	p.G153C	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	2	506	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	153					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.457G>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385996	0.82902	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.92446	-3.04;-2.59	5.25	5.25	0.73442	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000005	D	0.97399	0.9149	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98274	1.0505	10	0.72032	D	0.01	-12.7263	17.7855	0.88536	0.0:1.0:0.0:0.0	.	153;153	B7Z8R3;P54868	.;HMCS2_HUMAN	C	153	ENSP00000358414:G153C;ENSP00000439495:G153C	ENSP00000358414:G153C	G	-	1	0	HMGCS2	120108420	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	7.332000	0.79203	2.607000	0.88179	0.650000	0.86243	GGC		0.517	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		11	57	1	0	4.68919e-08	1	5.58064e-08	11	57				
TUBGCP5	114791	broad.mit.edu	37	15	22848930	22848930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22848930G>A	ENST00000283645.4	+	10	1107	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R326Q	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	326					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTTGTGTTTCGACTCCAGGAG	0.453																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(976-978)cGa>cAa		tubulin, gamma complex associated protein 5							158.0	142.0	147.0					15																	22848930		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22848930G>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.977G>A	15.37:g.22848930G>A	ENSP00000283645:p.Arg326Gln					TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R326Q|TUBGCP5_ENST00000559846.1_3'UTR	p.R326Q	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	10	1107	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	326					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.977G>A	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	27.1	4.802984	0.90623	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.09911	2.93;2.93	5.55	4.64	0.57946	.	0.055987	0.64402	D	0.000003	T	0.13756	0.0333	L	0.51422	1.61	0.58432	D	0.999993	D;D	0.54772	0.968;0.968	P;P	0.46110	0.504;0.504	T	0.12426	-1.0548	10	0.16420	T	0.52	-9.09	14.6817	0.69023	0.0701:0.0:0.9299:0.0	.	326;326	Q96RT8;E9PB12	GCP5_HUMAN;.	Q	326	ENSP00000283645:R326Q;ENSP00000409217:R326Q	ENSP00000283645:R326Q	R	+	2	0	TUBGCP5	20400371	1.000000	0.71417	0.877000	0.34402	0.822000	0.46500	6.240000	0.72363	1.486000	0.48398	0.655000	0.94253	CGA		0.453	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		34	67	0	0	0	1	0	34	67				
MXRA5	25878	broad.mit.edu	37	X	3248419	3248419	+	Missense_Mutation	SNP	C	C	T	rs142550750		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3248419C>T	ENST00000217939.6	-	4	503	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	117						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTGTGATCACTCTCAGCTTG	0.433																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(349-351)Gtg>Atg		matrix-remodelling associated 5							55.0	49.0	51.0					X																	3248419		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3248419C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.349G>A	X.37:g.3248419C>T	ENSP00000217939:p.Val117Met						p.V117M	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			4	503	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	117					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.349G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054505	0.36277	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.59364	0.27	3.56	3.56	0.40772	.	0.226375	0.21899	U	0.067472	T	0.53126	0.1777	L	0.36672	1.1	0.09310	N	1	P	0.36789	0.57	P	0.45506	0.483	T	0.51084	-0.8750	10	0.72032	D	0.01	.	9.2332	0.37450	0.0:0.8941:0.0:0.1059	.	117	Q9NR99	MXRA5_HUMAN	M	117	ENSP00000217939:V117M	ENSP00000217939:V117M	V	-	1	0	MXRA5	3258419	0.398000	0.25279	0.001000	0.08648	0.087000	0.18053	2.666000	0.46799	1.559000	0.49555	0.597000	0.82753	GTG		0.433	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		7	11	0	0	0	1	0	7	11				
NCDN	23154	broad.mit.edu	37	1	36026482	36026482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36026482C>A	ENST00000373243.2	+	3	1113	c.730C>A	c.(730-732)Ctg>Atg	p.L244M	NCDN_ENST00000373253.3_Missense_Mutation_p.L227M|NCDN_ENST00000356090.4_Missense_Mutation_p.L244M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	244					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCAGCTGCTGCCCCTCTT	0.637																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(730-732)Ctg>Atg		neurochondrin							63.0	59.0	60.0					1																	36026482		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026482C>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.730C>A	1.37:g.36026482C>A	ENSP00000362340:p.Leu244Met					NCDN_ENST00000356090.4_Missense_Mutation_p.L244M|NCDN_ENST00000373253.3_Missense_Mutation_p.L227M	p.L244M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			3	1113	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	244					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.730C>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118448	0.56505	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.74315	-0.83;-0.83;-0.83	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000002	D	0.82554	0.5062	L	0.61218	1.895	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	D	0.83361	0.0002	10	0.66056	D	0.02	.	10.9287	0.47205	0.0:0.915:0.0:0.085	.	244	Q9UBB6	NCDN_HUMAN	M	227;244;244;227	ENSP00000362350:L227M;ENSP00000348394:L244M;ENSP00000362340:L244M	ENSP00000348394:L244M	L	+	1	2	NCDN	35799069	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.200000	0.32247	2.586000	0.87340	0.561000	0.74099	CTG		0.637	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		22	38	1	0	2.89027e-11	1	3.59474e-11	22	38				
OR5F1	338674	broad.mit.edu	37	11	55761475	55761475	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761475C>T	ENST00000278409.1	-	1	626	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	209					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAGCAGAGTCCCCACAATAT	0.473																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(625-627)ggG>ggA		olfactory receptor, family 5, subfamily F, member 1							75.0	68.0	70.0					11																	55761475		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761475C>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.627G>A	11.37:g.55761475C>T							p.G209G	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	626	-	Esophageal squamous(21;0.00448)		209					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.627G>A	CCDS31515.1																																																																																				0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		16	34	0	0	0	1	0	16	34				
NCOA7	135112	broad.mit.edu	37	6	126243846	126243846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126243846G>A	ENST00000368357.3	+	14	2741	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	NCOA7_ENST00000392477.2_Missense_Mutation_p.A797T|NCOA7_ENST00000229634.9_Missense_Mutation_p.A682T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	797					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACGCCTTCCTGCAAGGGTGCA	0.512																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(2389-2391)Gca>Aca		nuclear receptor coactivator 7							119.0	102.0	108.0					6																	126243846		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126243846G>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2389G>A	6.37:g.126243846G>A	ENSP00000357341:p.Ala797Thr					NCOA7_ENST00000229634.9_Missense_Mutation_p.A682T|NCOA7_ENST00000392477.2_Missense_Mutation_p.A797T	p.A797T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	14	2741	+			797					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.2389G>A	CCDS5132.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.198747|5.198747	0.94997|0.94997	.|.	.|.	ENSG00000111912|ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353|ENST00000448104;ENST00000438495;ENST00000444128	T;T;T;T|.	0.32988|.	2.59;2.59;2.6;1.43|.	5.97|5.97	5.97|5.97	0.96955|0.96955	TLDc (1);|.	0.050758|.	0.85682|.	D|.	0.000000|.	T|T	0.74673|0.74673	0.3747|0.3747	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;B;D;D|.	0.89917|.	0.993;0.386;1.0;1.0|.	P;P;D;D|.	0.91635|.	0.782;0.54;0.999;0.998|.	T|T	0.72754|0.72754	-0.4198|-0.4198	10|5	0.52906|.	T|.	0.07|.	-10.0537|-10.0537	20.0086|20.0086	0.97443|0.97443	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	786;91;786;797|.	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08|.	.;.;.;NCOA7_HUMAN|.	T|Y	797;797;682;107;107|91	ENSP00000357341:A797T;ENSP00000376269:A797T;ENSP00000229634:A682T;ENSP00000411002:A107T|.	ENSP00000229634:A682T|.	A|C	+|+	1|2	0|0	NCOA7|NCOA7	126285539|126285539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.655000|4.655000	0.61476|0.61476	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GCA|TGC		0.512	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		28	36	0	0	0	1	0	28	36				
NAPG	8774	broad.mit.edu	37	18	10540398	10540398	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10540398T>C	ENST00000322897.6	+	8	575		c.e8+2		NAPG_ENST00000542979.1_Splice_Site	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma						intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						AGGACGTAGGTATGTCTTTAA	0.358																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.e8+2		N-ethylmaleimide-sensitive factor attachment protein, gamma							80.0	76.0	77.0					18																	10540398		1845	4091	5936	SO:0001630	splice_region_variant	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10540398T>C	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.506+2T>C	18.37:g.10540398T>C						NAPG_ENST00000542979.1_Splice_Site		NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			8	575	+								B4DFC9|Q9BUV1	Splice_Site	SNP	ENST00000322897.6	37		CCDS45827.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698890	0.68501	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	.	.	.	5.96	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0701	0.53611	0.0:0.0671:0.0:0.9329	.	.	.	.	.	-1	.	.	.	+	.	.	NAPG	10530398	1.000000	0.71417	0.986000	0.45419	0.861000	0.49209	5.511000	0.67024	1.074000	0.40909	0.528000	0.53228	.		0.358	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826	Intron	29	26	0	0	0	1	0	29	26				
LPL	4023	broad.mit.edu	37	8	19805744	19805744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19805744G>T	ENST00000311322.8	+	2	612	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	48					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GACCCCTGAAGACACAGCTGA	0.458																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(142-144)Gac>Tac		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						145.0	134.0	138.0					8																	19805744		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805744G>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.142G>T	8.37:g.19805744G>T	ENSP00000309757:p.Asp48Tyr					LPL_ENST00000521994.1_3'UTR	p.D48Y	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	612	+			48					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.142G>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618932	0.66787	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.91631	-2.88;-2.88;-2.88	5.23	4.35	0.52113	Lipase, N-terminal (1);	0.700616	0.15138	N	0.278421	D	0.91543	0.7329	M	0.65677	2.01	0.29989	N	0.817026	B	0.31174	0.311	B	0.38921	0.285	D	0.91828	0.5473	8	.	.	.	-17.9594	11.7204	0.51678	0.0867:0.0:0.9132:0.0	.	48	P06858	LIPL_HUMAN	Y	48;48;48;34	ENSP00000428237:D48Y;ENSP00000428557:D48Y;ENSP00000309757:D48Y	.	D	+	1	0	LPL	19850024	0.443000	0.25641	1.000000	0.80357	0.997000	0.91878	1.401000	0.34589	1.336000	0.45506	0.655000	0.94253	GAC		0.458	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			16	95	1	0	1.99824e-07	1	2.35189e-07	16	95				
SEC23A	10484	broad.mit.edu	37	14	39565205	39565205	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39565205C>A	ENST00000307712.6	-	2	635	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S	SEC23A_ENST00000548032.2_Missense_Mutation_p.A40S|SEC23A_ENST00000545328.2_Missense_Mutation_p.A40S|SEC23A_ENST00000553970.1_Missense_Mutation_p.A40S|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000557280.1_Missense_Mutation_p.A40S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	40					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTAAACAGGGCTGCCACAGGA	0.433																																						ENST00000307712.6																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(118-120)Gcc>Tcc		Sec23 homolog A (S. cerevisiae)							132.0	118.0	123.0					14																	39565205		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39565205C>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.118G>T	14.37:g.39565205C>A	ENSP00000306881:p.Ala40Ser					SEC23A_ENST00000545328.2_Missense_Mutation_p.A40S|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000557280.1_Missense_Mutation_p.A40S|SEC23A_ENST00000553970.1_Missense_Mutation_p.A40S|SEC23A_ENST00000548032.2_Missense_Mutation_p.A40S	p.A40S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	2	635	-	Hepatocellular(127;0.213)		40					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.118G>T	CCDS9668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.60|15.60	2.881761|2.881761	0.51908|0.51908	.|.	.|.	ENSG00000100934|ENSG00000100934	ENST00000307712;ENST00000545328;ENST00000555017;ENST00000556092;ENST00000548032;ENST00000555425;ENST00000557280;ENST00000553970;ENST00000557437|ENST00000554645	D;D;D;D;D;D;D;D;D|.	0.83506|.	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73|.	5.72|5.72	3.67|3.67	0.42095|0.42095	.|.	0.367488|.	0.31123|.	N|.	0.008217|.	T|T	0.55257|0.55257	0.1909|0.1909	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.12156|.	0.007;0.005|.	T|T	0.52177|0.52177	-0.8610|-0.8610	10|5	0.52906|.	T|.	0.07|.	-5.3566|-5.3566	15.2772|15.2772	0.73750|0.73750	0.3315:0.6685:0.0:0.0|0.3315:0.6685:0.0:0.0	.|.	40;40|.	F5H365;Q15436|.	.;SC23A_HUMAN|.	S|H	40|29	ENSP00000306881:A40S;ENSP00000445393:A40S;ENSP00000450819:A40S;ENSP00000451230:A40S;ENSP00000447489:A40S;ENSP00000451999:A40S;ENSP00000452575:A40S;ENSP00000451924:A40S;ENSP00000452390:A40S|.	ENSP00000306881:A40S|.	A|Q	-|-	1|3	0|2	SEC23A|SEC23A	38634956|38634956	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.854000|0.854000	0.27791|0.27791	1.347000|1.347000	0.45714|0.45714	0.563000|0.563000	0.77884|0.77884	GCC|CAG		0.433	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			10	72	1	0	0.361761	1	0.363227	10	72				
OR10Q1	219960	broad.mit.edu	37	11	57995808	57995808	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57995808G>A	ENST00000316770.2	-	1	582	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAGGAAGTGGTTGATTTCCT	0.637																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(538-540)aaC>aaT		olfactory receptor, family 10, subfamily Q, member 1							69.0	60.0	63.0					11																	57995808		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995808G>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.540C>T	11.37:g.57995808G>A							p.N180N	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	582	-		Breast(21;0.0589)	180					Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.540C>T	CCDS31547.1																																																																																				0.637	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		23	20	0	0	0	1	0	23	20				
ITSN1	6453	broad.mit.edu	37	21	35186340	35186340	+	Silent	SNP	G	G	A	rs370570785		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35186340G>A	ENST00000381318.3	+	22	2979	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	ITSN1_ENST00000399353.1_Silent_p.T855T|ITSN1_ENST00000399338.4_Silent_p.T892T|ITSN1_ENST00000399349.1_Silent_p.T892T|ITSN1_ENST00000399367.3_Silent_p.T892T|ITSN1_ENST00000379960.5_Silent_p.T892T|ITSN1_ENST00000381291.4_Silent_p.T897T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.T892T|ITSN1_ENST00000399355.2_Silent_p.T897T|ITSN1_ENST00000381285.4_Silent_p.T897T|ITSN1_ENST00000399326.3_Silent_p.T892T|ITSN1_ENST00000399352.1_Silent_p.T892T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	897					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCCAGCCACGGCCACTGGCT	0.562																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2689-2691)acG>acA		intersectin 1 (SH3 domain protein)		G	,	1,4405	2.1+/-5.4	0,1,2202	50.0	40.0	43.0		2691,2691	-7.4	0.9	21		43	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ITSN1	NM_001001132.1,NM_003024.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	897/1221,897/1722	35186340	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35186340G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2691G>A	21.37:g.35186340G>A						ITSN1_ENST00000381285.4_Silent_p.T897T|ITSN1_ENST00000399355.2_Silent_p.T897T|ITSN1_ENST00000399349.1_Silent_p.T892T|ITSN1_ENST00000399353.1_Silent_p.T855T|ITSN1_ENST00000399352.1_Silent_p.T892T|ITSN1_ENST00000437442.2_Silent_p.T892T|ITSN1_ENST00000399326.3_Silent_p.T892T|ITSN1_ENST00000399338.4_Silent_p.T892T|ITSN1_ENST00000379960.5_Silent_p.T892T|ITSN1_ENST00000381291.4_Silent_p.T897T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.T892T	p.T897T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			22	2979	+			897					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.2691G>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	9.414	1.081166	0.20309	2.27E-4	0.0	ENSG00000205726	ENST00000440794	.	.	.	5.61	-7.42	0.01388	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46569	-0.9182	4	.	.	.	.	4.5147	0.11928	0.4279:0.0742:0.3887:0.1093	.	.	.	.	S	132	.	.	G	+	1	0	ITSN1	34108210	0.001000	0.12720	0.949000	0.38748	0.968000	0.65278	-1.438000	0.02416	-0.910000	0.03847	-1.193000	0.01689	GGC		0.562	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		17	23	0	0	0	1	0	17	23				
CXCR5	643	broad.mit.edu	37	11	118764321	118764321	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118764321G>T	ENST00000292174.4	+	2	244	c.68G>T	c.(67-69)aGa>aTa	p.R23I		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	23					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAACTGGACAGATTGGACAAC	0.567																																						ENST00000292174.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(67-69)aGa>aTa		chemokine (C-X-C motif) receptor 5							73.0	70.0	71.0					11																	118764321		2200	4295	6495	SO:0001583	missense	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118764321G>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.68G>T	11.37:g.118764321G>T	ENSP00000292174:p.Arg23Ile						p.R23I	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	244	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	23					Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	c.68G>T	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	G	5.477	0.273130	0.10349	.	.	ENSG00000160683	ENST00000292174	T	0.36878	1.23	3.94	-1.6	0.08426	.	0.984372	0.08249	N	0.974957	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26677	-1.0096	10	0.20519	T	0.43	.	4.984	0.14180	0.2377:0.0:0.4534:0.3088	.	23	P32302	CXCR5_HUMAN	I	23	ENSP00000292174:R23I	ENSP00000292174:R23I	R	+	2	0	CXCR5	118269531	0.019000	0.18553	0.001000	0.08648	0.004000	0.04260	0.324000	0.19610	-0.531000	0.06340	-0.752000	0.03492	AGA		0.567	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		33	48	1	0	2.87052e-16	1	3.7018e-16	33	48				
CCL26	10344	broad.mit.edu	37	7	75399066	75399066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75399066C>T	ENST00000394905.2	-	4	487	c.230G>A	c.(229-231)aGg>aAg	p.R77K	CCL26_ENST00000005180.4_Missense_Mutation_p.R77K	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	77					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(3)	3						CCATTTTTTCCTTGGATGGGT	0.438																																						ENST00000394905.2																			0				lung(3)	3						c.(229-231)aGg>aAg		chemokine (C-C motif) ligand 26							142.0	127.0	132.0					7																	75399066		2203	4300	6503	SO:0001583	missense	10344				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75399066C>T	AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"""Chemokine ligands"", ""Endogenous ligands"""	10625	protein-coding gene	gene with protein product	"""macrophage inflammatory protein 4-alpha"", ""small inducible cytokine A26"", ""CC chemokine IMAC"", ""chemokine N1"", ""thymic stroma chemokine-1"", ""eotaxin-3"""	604697	"""small inducible cytokine subfamily A (Cys-Cys), member 26"""	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.230G>A	7.37:g.75399066C>T	ENSP00000378365:p.Arg77Lys					CCL26_ENST00000005180.4_Missense_Mutation_p.R77K	p.R77K	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN			4	487	-			77					A0N0Q5|Q52LV8	Missense_Mutation	SNP	ENST00000394905.2	37	c.230G>A	CCDS5578.1	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.432219	0.01108	.	.	ENSG00000006606	ENST00000005180;ENST00000394905	T;T	0.03951	3.75;3.75	3.39	0.966	0.19667	Chemokine interleukin-8-like domain (3);	0.569427	0.15648	N	0.251546	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47849	-0.9085	9	0.02654	T	1	.	5.9683	0.19338	0.0:0.4007:0.0:0.5993	.	77	Q9Y258	CCL26_HUMAN	K	77	ENSP00000005180:R77K;ENSP00000378365:R77K	ENSP00000005180:R77K	R	-	2	0	CCL26	75237002	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.078000	0.11375	-0.180000	0.10637	-1.780000	0.00649	AGG		0.438	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344900.1	NM_006072		4	62	0	0	0	1	0	4	62				
RNF144B	255488	broad.mit.edu	37	6	18427916	18427916	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18427916G>A	ENST00000259939.3	+	3	587	c.270G>A	c.(268-270)gaG>gaA	p.E90E	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	90					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGGAAGCTGAGGTATGAATGA	0.458																																						ENST00000259939.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11						c.e3+1		ring finger protein 144B							99.0	84.0	89.0					6																	18427916		2203	4300	6503	SO:0001630	splice_region_variant	255488				apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18427916G>A	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.270+1G>A	6.37:g.18427916G>A						RNF144B_ENST00000429054.2_Intron	p.E90_splice	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)		3	587	+	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	90					B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Splice_Site	SNP	ENST00000259939.3	37	c.270_splice	CCDS34345.1																																																																																				0.458	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	XM_172581	Silent	3	24	0	0	0	1	0	3	24				
PCSK5	5125	broad.mit.edu	37	9	78923581	78923581	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78923581C>A	ENST00000545128.1	+	28	4082	c.3544C>A	c.(3544-3546)Cct>Act	p.P1182T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1182	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAAACTCCAGCCTTGTCATTC	0.423																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(3544-3546)Cct>Act		proprotein convertase subtilisin/kexin type 5							46.0	44.0	45.0					9																	78923581		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78923581C>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3544C>A	9.37:g.78923581C>A	ENSP00000446280:p.Pro1182Thr						p.P1182T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			28	4082	+			901					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.3544C>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423028	0.25639	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.31769	1.48;1.51	5.89	-0.759	0.11045	.	0.698644	0.13975	N	0.349915	T	0.31358	0.0794	M	0.74881	2.28	0.09310	N	1	.	.	.	.	.	.	T	0.26189	-1.0110	8	0.35671	T	0.21	0.0525	1.2055	0.01893	0.1657:0.3795:0.2345:0.2203	.	.	.	.	T	1182;912;882	ENSP00000446280:P1182T;ENSP00000411654:P882T	ENSP00000365945:P912T	P	+	1	0	PCSK5	78113401	0.000000	0.05858	0.002000	0.10522	0.145000	0.21501	-0.464000	0.06688	-0.154000	0.11118	-1.147000	0.01851	CCT		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	16	1	0	2.80697e-09	1	3.39963e-09	11	16				
PCDHA3	56145	broad.mit.edu	37	5	140182502	140182502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182502G>A	ENST00000522353.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	574					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCATCGGTGGCGCAGT	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1720-1722)Ggt>Agt									87.0	86.0	86.0					5																	140182502		2203	4299	6502	SO:0001583	missense	0							g.chr5:140182502G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1720G>A	5.37:g.140182502G>A	ENSP00000429808:p.Gly574Ser					PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	p.G574S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1720	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1720G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	2.493	-0.317081	0.05386	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53206	0.68;0.63	2.78	-2.85	0.05734	Cadherin-like (1);	24.226200	0.00664	U	0.000605	T	0.32971	0.0847	L	0.33792	1.035	0.09310	N	1	B;B	0.24426	0.103;0.029	B;B	0.24394	0.053;0.006	T	0.13045	-1.0524	10	0.46703	T	0.11	.	0.7971	0.01068	0.1519:0.1901:0.2951:0.3629	.	574;574	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	574	ENSP00000429808:G574S;ENSP00000434086:G574S	ENSP00000429808:G574S	G	+	1	0	PCDHA3	140162686	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.571000	0.05889	-0.344000	0.08338	0.313000	0.20887	GGT		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		7	69	0	0	0	1	0	7	69				
FBN1	2200	broad.mit.edu	37	15	48905269	48905269	+	Missense_Mutation	SNP	C	C	T	rs145942328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48905269C>T	ENST00000316623.5	-	3	640	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	62			R -> C (in MFS; also in a patient with ectopia lentis and retinal detachment; dbSNP:rs25403). {ECO:0000269|PubMed:12203992}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R62H(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCATTATAACGTGATCCACA	0.358																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.R62H(1)	ovary(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(184-186)cGt>cAt		fibrillin 1		C	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	137.0	134.0	135.0		185	3.3	1.0	15	dbSNP_134	135	0,8592		0,0,4296	no	missense	FBN1	NM_000138.4	29	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	62/2872	48905269	1,12985	2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905269C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.185G>A	15.37:g.48905269C>T	ENSP00000325527:p.Arg62His						p.R62H	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	640	-		all_lung(180;0.00279)	62		R -> C (in MFS; also in a patient with ectopia lentis and retinal detachment; dbSNP:rs25403).			B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.185G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286483	0.59867	2.28E-4	0.0	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.83075	-1.68;0.47	5.12	3.26	0.37387	.	0.056658	0.64402	N	0.000002	D	0.90580	0.7047	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.90500	0.4473	10	0.62326	D	0.03	.	11.4594	0.50202	0.0:0.8545:0.0:0.1455	.	62	P35555	FBN1_HUMAN	H	62	ENSP00000325527:R62H;ENSP00000440294:R62H	ENSP00000325527:R62H	R	-	2	0	FBN1	46692561	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.619000	0.54196	0.754000	0.32968	-0.216000	0.12614	CGT		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			8	89	0	0	0	1	0	8	89				
OR1F1	4992	broad.mit.edu	37	16	3254318	3254318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3254318G>T	ENST00000304646.2	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	24					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCCAGCAGCAGCATCTCCTCT	0.592																																						ENST00000304646.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(70-72)caG>caT		olfactory receptor, family 1, subfamily F, member 1							73.0	68.0	69.0					16																	3254318		2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254318G>T	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.72G>T	16.37:g.3254318G>T	ENSP00000305424:p.Gln24His					AJ003147.9_ENST00000576468.1_RNA	p.Q24H	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN			1	72	+			24					O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.72G>T	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974786	0.34848	.	.	ENSG00000168124	ENST00000304646	T	0.00601	6.29	4.97	4.97	0.65823	.	0.244825	0.28877	N	0.013852	T	0.02304	0.0071	M	0.83483	2.645	0.30415	N	0.778701	D	0.57571	0.98	P	0.62014	0.897	T	0.02026	-1.1227	10	0.72032	D	0.01	.	9.6896	0.40120	0.0966:0.0:0.9034:0.0	.	24	O43749	OR1F1_HUMAN	H	24	ENSP00000305424:Q24H	ENSP00000305424:Q24H	Q	+	3	2	OR1F1	3194319	0.653000	0.27358	1.000000	0.80357	0.848000	0.48234	0.949000	0.29109	2.456000	0.83038	0.393000	0.25936	CAG		0.592	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			4	31	1	0	0.00024832	1	0.0002712	4	31				
GRM5	2915	broad.mit.edu	37	11	88338068	88338068	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88338068G>T	ENST00000305447.4	-	4	1361	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	GRM5_ENST00000305432.5_Silent_p.I404I|GRM5_ENST00000393297.1_Silent_p.I404I|GRM5_ENST00000455756.2_Silent_p.I404I|GRM5_ENST00000418177.2_Silent_p.I404I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	404					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCATCGAATAGATGGCGTTGA	0.458																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1210-1212)atC>atA		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						102.0	86.0	92.0					11																	88338068		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88338068G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1212C>A	11.37:g.88338068G>T						GRM5_ENST00000305447.4_Silent_p.I404I|GRM5_ENST00000305432.5_Silent_p.I404I|GRM5_ENST00000455756.2_Silent_p.I404I|GRM5_ENST00000393297.1_Silent_p.I404I	p.I404I			P41594	GRM5_HUMAN			5	1579	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	404					Q6J164	Silent	SNP	ENST00000305447.4	37	c.1212C>A	CCDS44694.1																																																																																				0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		8	59	1	0	0.00307968	1	0.00325696	8	59				
HOOK3	84376	broad.mit.edu	37	8	42841911	42841911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42841911G>A	ENST00000307602.4	+	15	1705	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	502					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAAATCTACGCAAGAATGAA	0.393			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1504-1506)cGc>cAc		hook microtubule-tethering protein 3							118.0	126.0	123.0					8																	42841911		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42841911G>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1505G>A	8.37:g.42841911G>A	ENSP00000305699:p.Arg502His						p.R502H	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		15	1705	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	502					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1505G>A	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300422	0.95601	.	.	ENSG00000168172	ENST00000307602	T	0.19532	2.14	5.22	5.22	0.72569	.	0.049104	0.85682	D	0.000000	T	0.42966	0.1226	M	0.73598	2.24	0.80722	D	1	D	0.55385	0.971	P	0.55391	0.775	T	0.36480	-0.9746	10	0.52906	T	0.07	-5.6301	18.8505	0.92227	0.0:0.0:1.0:0.0	.	502	Q86VS8	HOOK3_HUMAN	H	502	ENSP00000305699:R502H	ENSP00000305699:R502H	R	+	2	0	HOOK3	42961068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.354000	0.97083	2.463000	0.83235	0.558000	0.71614	CGC		0.393	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		6	117	0	0	0	1	0	6	117				
COPS4	51138	broad.mit.edu	37	4	83971034	83971034	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83971034G>A	ENST00000264389.2	+	4	442	c.307G>A	c.(307-309)Gtt>Att	p.V103I	COPS4_ENST00000509093.1_Splice_Site_p.V103I|COPS4_ENST00000503682.1_Splice_Site_p.V103I|COPS4_ENST00000511653.1_Splice_Site_p.V103I	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	103					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ATTATTCCAGGTTGCTTCCAT	0.333																																						ENST00000509093.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.e4-1		COP9 signalosome subunit 4							99.0	112.0	108.0					4																	83971034		2203	4299	6502	SO:0001630	splice_region_variant	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83971034G>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.307-1G>A	4.37:g.83971034G>A						COPS4_ENST00000503682.1_Splice_Site_p.V103_splice|COPS4_ENST00000511653.1_Splice_Site_p.V103_splice|COPS4_ENST00000264389.2_Splice_Site_p.V103_splice	p.V103_splice	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN			4	1085	+		Hepatocellular(203;0.114)	103					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Splice_Site	SNP	ENST00000264389.2	37	c.306_splice	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128449	0.56721	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	T;T;T;T	0.48201	0.84;0.88;0.82;0.84	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.58969	1.84	0.80722	D	1	B;B;B;B	0.25850	0.021;0.025;0.136;0.124	B;B;B;B	0.22386	0.009;0.029;0.015;0.039	T	0.35699	-0.9778	9	.	.	.	-18.729	19.7164	0.96122	0.0:0.0:1.0:0.0	.	103;103;103;103	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	I	103	ENSP00000425976:V103I;ENSP00000264389:V103I;ENSP00000424791:V103I;ENSP00000424655:V103I	.	V	+	1	0	COPS4	84190058	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.645000	0.98471	2.662000	0.90505	0.650000	0.86243	GTT		0.333	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1		Missense_Mutation	31	43	0	0	0	1	0	31	43				
CELSR2	1952	broad.mit.edu	37	1	109795908	109795908	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795908A>G	ENST00000271332.3	+	1	3268	c.3207A>G	c.(3205-3207)gaA>gaG	p.E1069E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1069	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGAAATGAACTCAGCCTGG	0.577																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3205-3207)gaA>gaG		cadherin, EGF LAG seven-pass G-type receptor 2							59.0	53.0	55.0					1																	109795908		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795908A>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3207A>G	1.37:g.109795908A>G							p.E1069E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3268	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1069			Cadherin 9.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3207A>G	CCDS796.1																																																																																				0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		15	49	0	0	0	1	0	15	49				
MECP2	4204	broad.mit.edu	37	X	153296283	153296283	+	Silent	SNP	G	G	A	rs148744894|rs267608558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296283G>A	ENST00000303391.6	-	4	1245	c.996C>T	c.(994-996)agC>agT	p.S332S	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Silent_p.S344S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	332					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTTCCCGCTCTTCTCAC	0.627													G|||	3	0.000794702	0.0	0.0	3775	,	,		9429	0.0		0.0	False		,,,				2504	0.0031					ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	GRCh37	CD067878|CI016035	MECP2	D|I	rs148744894	c.(994-996)agC>agT		methyl CpG binding protein 2 (Rett syndrome)		G	,	0,3835		0,0,1632,571	66.0	61.0	63.0		1032,996	-7.4	0.2	X	dbSNP_134	63	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	MECP2	NM_001110792.1,NM_004992.3	,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,	344/499,332/487	153296283	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296283G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.996C>T	X.37:g.153296283G>A						MECP2_ENST00000453960.2_Silent_p.S344S	p.S332S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	1245	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		332					O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.996C>T	CCDS14741.1																																																																																				0.627	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		36	52	0	0	0	1	0	36	52				
SLC7A4	6545	broad.mit.edu	37	22	21384352	21384352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21384352C>T	ENST00000382932.2	-	3	1338	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G424D|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	424					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGCTGGGCCTGGGGAGCT	0.632																																						ENST00000382932.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(1270-1272)gGc>gAc		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						23.0	24.0	24.0					22																	21384352		2200	4300	6500	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384352C>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1271G>A	22.37:g.21384352C>T	ENSP00000372390:p.Gly424Asp					SLC7A4_ENST00000403586.1_Missense_Mutation_p.G424D	p.G424D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1338	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	424					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1271G>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	2.344	-0.350440	0.05173	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.85339	-1.97;-1.97	5.46	0.913	0.19354	.	1.472120	0.03389	N	0.201619	T	0.76550	0.4003	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.57711	-0.7764	10	0.09590	T	0.72	.	6.0486	0.19773	0.0:0.6139:0.1408:0.2453	.	424	O43246	CTR4_HUMAN	D	424	ENSP00000384278:G424D;ENSP00000372390:G424D	ENSP00000372390:G424D	G	-	2	0	SLC7A4	19714352	0.137000	0.22531	0.006000	0.13384	0.449000	0.32228	0.469000	0.22067	0.803000	0.34113	0.561000	0.74099	GGC		0.632	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		6	7	0	0	0	1	0	6	7				
C10orf12	26148	broad.mit.edu	37	10	98741938	98741938	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741938C>A	ENST00000286067.2	+	1	898	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	264										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAATCACCTCTCACGAGGAA	0.512																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(790-792)tCt>tAt		chromosome 10 open reading frame 12							89.0	91.0	90.0					10																	98741938		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741938C>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.791C>A	10.37:g.98741938C>A	ENSP00000286067:p.Ser264Tyr						p.S264Y	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	898	+		Colorectal(252;0.172)	264					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.791C>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982209	0.18889	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08370	3.1	6.05	5.14	0.70334	.	0.448149	0.18794	N	0.130969	T	0.17023	0.0409	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.63113	0.911;0.911	T	0.08330	-1.0727	10	0.59425	D	0.04	4.0E-4	15.9055	0.79427	0.0:0.8659:0.1341:0.0	.	98;264	A0PJI9;Q8N655	.;CJ012_HUMAN	Y	264;98	ENSP00000286067:S264Y	ENSP00000286067:S264Y	S	+	2	0	C10orf12	98731928	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	1.009000	0.29886	1.544000	0.49359	0.655000	0.94253	TCT		0.512	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		27	53	1	0	5.45727e-16	1	7.024e-16	27	53				
BMP15	9210	broad.mit.edu	37	X	50659372	50659372	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50659372A>G	ENST00000252677.3	+	2	944	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	315					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCCCTTTCTACACCCCAAAC	0.488																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(943-945)tAc>tGc		bone morphogenetic protein 15							163.0	137.0	146.0					X																	50659372		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659372A>G	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.944A>G	X.37:g.50659372A>G	ENSP00000252677:p.Tyr315Cys						p.Y315C	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	944	+	Ovarian(276;0.236)		315					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.944A>G	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	11.68	1.711147	0.30322	.	.	ENSG00000130385	ENST00000252677	D	0.86366	-2.11	5.58	2.99	0.34606	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.251837	0.41938	N	0.000795	D	0.94961	0.8370	H	0.97758	4.07	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.93778	0.7081	10	0.87932	D	0	.	8.1805	0.31307	0.6766:0.0:0.0:0.3234	.	315	O95972	BMP15_HUMAN	C	315	ENSP00000252677:Y315C	ENSP00000252677:Y315C	Y	+	2	0	BMP15	50676112	1.000000	0.71417	0.014000	0.15608	0.005000	0.04900	7.249000	0.78278	0.725000	0.32318	0.481000	0.45027	TAC		0.488	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		13	113	0	0	0	1	0	13	113				
FAM219A	203259	broad.mit.edu	37	9	34400979	34400979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34400979C>T	ENST00000445726.1	-	6	847	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	FAM219A_ENST00000379087.1_Missense_Mutation_p.A162T|FAM219A_ENST00000379080.1_Missense_Mutation_p.A168T|FAM219A_ENST00000379084.1_Intron|FAM219A_ENST00000297620.4_Missense_Mutation_p.A164T|FAM219A_ENST00000379081.1_Missense_Mutation_p.A152T|FAM219A_ENST00000379089.1_Missense_Mutation_p.A179T	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	181																	ATGTGGCAGGCGGTGGAGGAC	0.697																																						ENST00000445726.1																			0											c.(541-543)Gcc>Acc		family with sequence similarity 219, member A							32.0	32.0	32.0					9																	34400979		2203	4299	6502	SO:0001583	missense	203259							g.chr9:34400979C>T	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.541G>A	9.37:g.34400979C>T	ENSP00000392452:p.Ala181Thr					FAM219A_ENST00000297620.4_Missense_Mutation_p.A164T|FAM219A_ENST00000379084.1_Intron|FAM219A_ENST00000379087.1_Missense_Mutation_p.A162T|FAM219A_ENST00000379089.1_Missense_Mutation_p.A179T|FAM219A_ENST00000379080.1_Missense_Mutation_p.A168T|FAM219A_ENST00000379081.1_Missense_Mutation_p.A152T	p.A181T	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN			6	847	-			181					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	c.541G>A	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157986	0.94686	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620	.	.	.	5.3	5.3	0.74995	.	0.106321	0.64402	D	0.000006	T	0.78084	0.4228	M	0.68317	2.08	0.80722	D	1	B;D;B;B;P	0.89917	0.009;1.0;0.003;0.003;0.772	B;D;B;B;B	0.79108	0.006;0.992;0.002;0.002;0.109	T	0.79040	-0.1966	9	0.54805	T	0.06	-0.818	17.9386	0.89020	0.0:1.0:0.0:0.0	.	169;181;152;153;164	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	T	179;162;152;168;181;164	.	ENSP00000297620:A164T	A	-	1	0	C9orf25	34390979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.837000	0.69381	2.470000	0.83445	0.655000	0.94253	GCC		0.697	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		5	7	0	0	0	1	0	5	7				
TMEM132D	121256	broad.mit.edu	37	12	130185167	130185167	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130185167G>A	ENST00000422113.2	-	2	482	c.156C>T	c.(154-156)caC>caT	p.H52H	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	52					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTTGTTGATGTGGTAGGTCA	0.557																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(154-156)caC>caT		transmembrane protein 132D							101.0	74.0	83.0					12																	130185167		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185167G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.156C>T	12.37:g.130185167G>A							p.H52H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	482	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	52					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.156C>T	CCDS9266.1																																																																																				0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		14	25	0	0	0	1	0	14	25				
DCLK1	9201	broad.mit.edu	37	13	36362372	36362372	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36362372C>T	ENST00000360631.3	-	16	2270				DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000255448.4_Silent_p.Q703Q			O15075	DCLK1_HUMAN	doublecortin-like kinase 1						axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTCCTGGTTGCTGGTAGTAGT	0.488																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(2107-2109)caG>caA		doublecortin-like kinase 1							297.0	232.0	254.0					13																	36362372		2203	4300	6503	SO:0001627	intron_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36362372C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2058+5130G>A	13.37:g.36362372C>T						DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000360631.3_Intron	p.Q703Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	17	2320	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	0					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.2109G>A																																																																																					0.488	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		7	76	0	0	0	1	0	7	76				
XIRP1	165904	broad.mit.edu	37	3	39226380	39226380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39226380C>A	ENST00000340369.3	-	2	4785	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	XIRP1_ENST00000421646.1_Missense_Mutation_p.E202D|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1519					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCACTGAGGCCTCGGGCTTTT	0.632																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(4555-4557)gaG>gaT		xin actin-binding repeat containing 1							48.0	54.0	52.0					3																	39226380		2164	4277	6441	SO:0001583	missense	165904						actin binding	g.chr3:39226380C>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4557G>T	3.37:g.39226380C>A	ENSP00000343140:p.Glu1519Asp					XIRP1_ENST00000421646.1_Missense_Mutation_p.E202D|XIRP1_ENST00000396251.1_3'UTR	p.E1519D	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	4785	-			1519					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4557G>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	8.204	0.798889	0.16397	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.20200	3.77;2.09	4.04	3.16	0.36331	.	0.471570	0.19636	U	0.109576	T	0.18087	0.0434	L	0.56769	1.78	0.20975	N	0.999819	B	0.25312	0.123	B	0.17979	0.02	T	0.14448	-1.0472	10	0.33940	T	0.23	.	6.3894	0.21579	0.0:0.7066:0.1863:0.1071	.	1519	Q702N8	XIRP1_HUMAN	D	1519;202	ENSP00000343140:E1519D;ENSP00000391645:E202D	ENSP00000343140:E1519D	E	-	3	2	XIRP1	39201384	1.000000	0.71417	0.764000	0.31436	0.051000	0.14879	1.057000	0.30492	1.002000	0.39104	0.655000	0.94253	GAG		0.632	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		30	35	1	0	8.53417e-09	1	1.02731e-08	30	35				
TTN	7273	broad.mit.edu	37	2	179436581	179436581	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179436581T>C	ENST00000591111.1	-	276	69579	c.69355A>G	c.(69355-69357)Act>Gct	p.T23119A	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15695A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15820A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22192A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24760A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15887A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23119	Ig-like 118.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACTCTAGTTGTCTGCTTC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(74278-74280)Act>Gct		titin							94.0	100.0	98.0					2																	179436581		1928	4133	6061	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436581T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69355A>G	2.37:g.179436581T>C	ENSP00000465570:p.Thr23119Ala					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15695A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22192A|TTN_ENST00000359218.5_Missense_Mutation_p.T15820A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15887A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T23119A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.T24760A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	74502	-			23119			Fibronectin type-III 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74278A>G		.	.	.	.	.	.	.	.	.	.	T	16.91	3.251751	0.59212	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	6.07	4.9	0.64082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38558	0.1045	L	0.38733	1.17	0.54753	D	0.999987	P;P;P;P	0.42456	0.78;0.78;0.78;0.656	B;B;B;B	0.42386	0.386;0.386;0.386;0.298	T	0.27971	-1.0058	9	0.87932	D	0	.	13.7087	0.62654	0.0:0.0:0.1283:0.8717	.	15695;15820;15887;23119	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	22192;15695;15887;15820;15693	ENSP00000343764:T22192A;ENSP00000434586:T15695A;ENSP00000340554:T15887A;ENSP00000352154:T15820A	ENSP00000340554:T15887A	T	-	1	0	TTN	179144827	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	7.991000	0.88244	1.084000	0.41184	0.528000	0.53228	ACT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	82	0	0	0	1	0	46	82				
FURIN	5045	broad.mit.edu	37	15	91424521	91424521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91424521G>A	ENST00000268171.3	+	16	2077	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	600					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGCAGTGTGCGAGGAAGGCTT	0.607																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1798-1800)Gag>Aag		furin (paired basic amino acid cleaving enzyme)							52.0	47.0	48.0					15																	91424521		2198	4298	6496	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424521G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1798G>A	15.37:g.91424521G>A	ENSP00000268171:p.Glu600Lys						p.E600K	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2077	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		600			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1798G>A	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631911	0.29068	.	.	ENSG00000140564	ENST00000268171	D	0.81739	-1.53	4.83	4.83	0.62350	Growth factor, receptor (1);	0.264209	0.43110	D	0.000620	T	0.68495	0.3007	L	0.28014	0.82	0.45076	D	0.998099	B	0.19445	0.036	B	0.08055	0.003	T	0.64761	-0.6331	10	0.07030	T	0.85	-16.8124	17.9797	0.89137	0.0:0.0:1.0:0.0	.	600	P09958	FURIN_HUMAN	K	600	ENSP00000268171:E600K	ENSP00000268171:E600K	E	+	1	0	FURIN	89225525	1.000000	0.71417	0.991000	0.47740	0.765000	0.43378	6.966000	0.76073	2.234000	0.73211	0.555000	0.69702	GAG		0.607	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		8	49	0	0	0	1	0	8	49				
VRK3	51231	broad.mit.edu	37	19	50482412	50482412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50482412G>A	ENST00000599538.1	-	14	2028	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	VRK3_ENST00000443401.2_Missense_Mutation_p.A224V|VRK3_ENST00000594948.1_Missense_Mutation_p.A455V|VRK3_ENST00000377011.2_Missense_Mutation_p.A405V|VRK3_ENST00000316763.3_Missense_Mutation_p.A455V|VRK3_ENST00000601341.1_Missense_Mutation_p.A405V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGCAGCAAAGCTTCTAGGTT	0.562																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(1363-1365)gCt>gTt		vaccinia related kinase 3							173.0	138.0	150.0					19																	50482412		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50482412G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1364C>T	19.37:g.50482412G>A	ENSP00000469880:p.Ala455Val					VRK3_ENST00000594948.1_Missense_Mutation_p.A455V|VRK3_ENST00000377011.2_Missense_Mutation_p.A405V|VRK3_ENST00000443401.2_Missense_Mutation_p.A224V|VRK3_ENST00000601341.1_Missense_Mutation_p.A405V|VRK3_ENST00000316763.3_Missense_Mutation_p.A455V	p.A455V			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	14	2028	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	455			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.1364C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	0.517	-0.863702	0.02590	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000443401	T;T;T	0.19394	2.15;2.15;2.15	4.91	0.0131	0.14094	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.957469	0.08710	N	0.905036	T	0.15176	0.0366	L	0.38175	1.15	0.09310	N	1	B;B;B	0.15719	0.009;0.014;0.014	B;B;B	0.12156	0.007;0.006;0.006	T	0.31998	-0.9923	10	0.41790	T	0.15	-3.6374	5.3791	0.16181	0.2711:0.1503:0.5786:0.0	.	224;405;455	B4DGW1;A6NEG5;Q8IV63	.;.;VRK3_HUMAN	V	455;405;224	ENSP00000324636:A455V;ENSP00000366210:A405V;ENSP00000414907:A224V	ENSP00000324636:A455V	A	-	2	0	VRK3	55174224	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.105000	0.15333	0.184000	0.20083	-0.291000	0.09656	GCT		0.562	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		11	21	0	0	0	1	0	11	21				
IFT140	9742	broad.mit.edu	37	16	1570040	1570040	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1570040A>G	ENST00000426508.2	-	29	4245	c.3882T>C	c.(3880-3882)atT>atC	p.I1294I	IFT140_ENST00000361339.5_Silent_p.I488I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1294					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTATTCATCAATCTCCACCT	0.647																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3880-3882)atT>atC		intraflagellar transport 140 homolog (Chlamydomonas)							62.0	62.0	62.0					16																	1570040		2198	4300	6498	SO:0001819	synonymous_variant	9742							g.chr16:1570040A>G	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3882T>C	16.37:g.1570040A>G						IFT140_ENST00000361339.5_Silent_p.I488I	p.I1294I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			29	4245	-		Hepatocellular(780;0.219)	1294					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.3882T>C	CCDS10439.1																																																																																				0.647	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		16	26	0	0	0	1	0	16	26				
TMC5	79838	broad.mit.edu	37	16	19451377	19451377	+	Missense_Mutation	SNP	G	G	T	rs370451908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19451377G>T	ENST00000396229.2	+	3	766	c.17G>T	c.(16-18)aGg>aTg	p.R6M	TMC5_ENST00000381414.4_Missense_Mutation_p.R6M|TMC5_ENST00000541464.1_Missense_Mutation_p.R6M|TMC5_ENST00000542583.2_Missense_Mutation_p.R6M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	6					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTACTACAGGAATAACTGG	0.443																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(16-18)aGg>aTg		transmembrane channel-like 5							95.0	92.0	93.0					16																	19451377		1871	4119	5990	SO:0001583	missense	79838					integral to membrane		g.chr16:19451377G>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.17G>T	16.37:g.19451377G>T	ENSP00000379531:p.Arg6Met					TMC5_ENST00000381414.4_Missense_Mutation_p.R6M|TMC5_ENST00000541464.1_Missense_Mutation_p.R6M|TMC5_ENST00000542583.2_Missense_Mutation_p.R6M	p.R6M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	766	+			6					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.17G>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556527	0.27827	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.72725	-0.61;-0.46;-0.68;-0.68	5.02	3.0	0.34707	.	2587.460000	0.00166	N	0.000000	T	0.71719	0.3373	L	0.50333	1.59	0.23802	N	0.996801	P;P;P	0.47253	0.892;0.681;0.696	P;B;B	0.46479	0.518;0.319;0.329	T	0.54622	-0.8266	10	0.72032	D	0.01	-4.8206	5.9659	0.19325	0.1048:0.1944:0.7008:0.0	.	6;6;6	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	M	6	ENSP00000441227:R6M;ENSP00000370822:R6M;ENSP00000379531:R6M;ENSP00000446274:R6M	ENSP00000370822:R6M	R	+	2	0	TMC5	19358878	0.936000	0.31750	0.748000	0.31131	0.164000	0.22412	1.855000	0.39378	0.644000	0.30656	0.563000	0.77884	AGG		0.443	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		6	76	1	0	1.12685e-05	1	1.27857e-05	6	76				
TNFRSF1B	7133	broad.mit.edu	37	1	12262066	12262066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12262066G>A	ENST00000376259.3	+	9	1032	c.943G>A	c.(943-945)Gag>Aag	p.E315K	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	315					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ACAGGGCCCCGAGCAGCAGCA	0.667																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(943-945)Gag>Aag		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						14.0	15.0	15.0					1																	12262066		2193	4285	6478	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12262066G>A	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.943G>A	1.37:g.12262066G>A	ENSP00000365435:p.Glu315Lys					TNFRSF1B_ENST00000492361.1_3'UTR	p.E315K	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	9	1032	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	315					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.943G>A	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353240	0.61293	.	.	ENSG00000028137	ENST00000376259	D	0.90844	-2.74	4.96	4.96	0.65561	.	1.092640	0.07005	N	0.824115	D	0.95313	0.8479	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90485	0.4463	10	0.72032	D	0.01	-35.9764	14.0607	0.64797	0.0:0.0:1.0:0.0	.	315	P20333	TNR1B_HUMAN	K	315	ENSP00000365435:E315K	ENSP00000365435:E315K	E	+	1	0	TNFRSF1B	12184653	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	4.200000	0.58433	2.449000	0.82847	0.561000	0.74099	GAG		0.667	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		9	9	0	0	0	1	0	9	9				
RND1	27289	broad.mit.edu	37	12	49251978	49251978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49251978C>T	ENST00000309739.5	-	5	630	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	167					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GAAAGCTGAGCCTTCCAGGTA	0.557																																						ENST00000309739.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						c.(499-501)gGc>gAc		Rho family GTPase 1							101.0	96.0	98.0					12																	49251978		2203	4300	6503	SO:0001583	missense	27289				actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding	g.chr12:49251978C>T	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.500G>A	12.37:g.49251978C>T	ENSP00000308461:p.Gly167Asp						p.G167D	NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN			5	630	-			167					A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	c.500G>A	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429442	0.43122	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	T;T	0.69806	-0.43;-0.43	5.11	4.2	0.49525	.	0.048842	0.85682	D	0.000000	T	0.49081	0.1536	N	0.08118	0	0.46499	D	0.999073	B	0.23249	0.082	B	0.26094	0.066	T	0.52358	-0.8586	10	0.87932	D	0	-16.9843	14.4647	0.67475	0.1491:0.8509:0.0:0.0	.	167	Q92730	RND1_HUMAN	D	61;167	ENSP00000447059:G61D;ENSP00000308461:G167D	ENSP00000308461:G167D	G	-	2	0	RND1	47538245	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	7.556000	0.82233	1.442000	0.47568	0.561000	0.74099	GGC		0.557	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		14	37	0	0	0	1	0	14	37				
PPM1D	8493	broad.mit.edu	37	17	58734076	58734076	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58734076A>G	ENST00000305921.3	+	5	1366	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	378	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCTCCAGAAGTGGACAATC	0.463																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1132-1134)gaA>gaG		protein phosphatase, Mg2+/Mn2+ dependent, 1D							123.0	114.0	117.0					17																	58734076		2203	4300	6503	SO:0001819	synonymous_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58734076A>G	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1134A>G	17.37:g.58734076A>G							p.E378E	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1366	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		378			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Silent	SNP	ENST00000305921.3	37	c.1134A>G	CCDS11625.1																																																																																				0.463	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		6	72	0	0	0	1	0	6	72				
INTS6	26512	broad.mit.edu	37	13	52025168	52025168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52025168T>C	ENST00000311234.4	-	3	804	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	INTS6_ENST00000442263.3_Missense_Mutation_p.Y111C|INTS6_ENST00000463928.1_Missense_Mutation_p.Y111C|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000598905.1_RNA|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.Y98C|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000594959.1_RNA|INTS6_ENST00000491723.1_5'UTR|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6_ENST00000420668.2_Missense_Mutation_p.Y111C	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	111	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TACCTGCCCATAGTTGTCTAT	0.353																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(331-333)tAt>tGt		integrator complex subunit 6							95.0	103.0	100.0					13																	52025168		2202	4300	6502	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:52025168T>C	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.332A>G	13.37:g.52025168T>C	ENSP00000310260:p.Tyr111Cys					INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000420668.2_Missense_Mutation_p.Y111C|INTS6_ENST00000398119.2_Missense_Mutation_p.Y98C|INTS6_ENST00000463928.1_Missense_Mutation_p.Y111C|INTS6_ENST00000442263.3_Missense_Mutation_p.Y111C	p.Y111C	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	3	804	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	111			VWFA.		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.332A>G	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243269	0.79912	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000420668;ENST00000491189;ENST00000488009;ENST00000485178;ENST00000483288;ENST00000442263	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.168284	0.53938	D	0.000043	D	0.86280	0.5895	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.89810	0.3981	10	0.87932	D	0	-15.5362	15.3072	0.74001	0.0:0.0:0.0:1.0	.	111;111	Q9UL03-2;Q9UL03	.;INT6_HUMAN	C	111;98;111;38;38;98;98;111	ENSP00000310260:Y111C;ENSP00000381187:Y98C;ENSP00000388585:Y111C;ENSP00000419569:Y98C;ENSP00000417707:Y98C	ENSP00000310260:Y111C	Y	-	2	0	INTS6	50923169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.020000	0.88740	2.206000	0.71126	0.533000	0.62120	TAT		0.353	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		8	90	0	0	0	1	0	8	90				
EXOC7	23265	broad.mit.edu	37	17	74079743	74079743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74079743C>T	ENST00000335146.7	-	20	2247	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	EXOC7_ENST00000411744.2_Missense_Mutation_p.D673N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D653N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D690N|EXOC7_ENST00000607838.1_Missense_Mutation_p.D704N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D650N|EXOC7_ENST00000589210.1_Missense_Mutation_p.D681N|EXOC7_ENST00000591724.1_5'Flank			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	732					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGAGGTGTCGAAAAGGCGA	0.582																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(2110-2112)Gac>Aac		exocyst complex component 7							161.0	129.0	140.0					17																	74079743		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74079743C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2194G>A	17.37:g.74079743C>T	ENSP00000334100:p.Asp732Asn					EXOC7_ENST00000589210.1_Missense_Mutation_p.D681N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D653N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D673N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D690N|EXOC7_ENST00000335146.7_Missense_Mutation_p.D732N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D650N	p.D704N	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		20	2204	-			732					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.2110G>A	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516984	0.96416	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.68	4.68	0.58851	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78685	0.4322	M	0.71036	2.16	0.80722	D	1	D;P;D;D;D;D;D	0.89917	1.0;0.95;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.85130	0.926;0.629;0.98;0.991;0.99;0.962;0.997	T	0.81026	-0.1119	9	0.62326	D	0.03	-27.8386	17.7739	0.88501	0.0:1.0:0.0:0.0	.	673;704;653;618;732;650;681	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	N	650;570;704;732;681;618;673	.	ENSP00000333806:D650N	D	-	1	0	EXOC7	71591338	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.451000	0.80668	2.430000	0.82344	0.561000	0.74099	GAC		0.582	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		32	44	0	0	0	1	0	32	44				
LYST	1130	broad.mit.edu	37	1	235929518	235929518	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235929518T>C	ENST00000389794.3	-	21	6156	c.5982A>G	c.(5980-5982)aaA>aaG	p.K1994K	LYST_ENST00000389793.2_Silent_p.K1994K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1994					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTATAATTTTCACAAATG	0.353																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5980-5982)aaA>aaG		lysosomal trafficking regulator							138.0	153.0	148.0					1																	235929518		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235929518T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5982A>G	1.37:g.235929518T>C						LYST_ENST00000389793.2_Silent_p.K1994K|LYST_ENST00000536965.1_3'UTR	p.K1994K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		21	6156	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1994					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.5982A>G	CCDS31062.1																																																																																				0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			150	159	0	0	0	1	0	150	159				
ZNF682	91120	broad.mit.edu	37	19	20117136	20117136	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20117136G>T	ENST00000397165.2	-	4	1335	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.T360N|ZNF682_ENST00000595736.1_Missense_Mutation_p.T316N|ZNF682_ENST00000597972.1_Missense_Mutation_p.T398N|ZNF682_ENST00000397162.1_Missense_Mutation_p.T360N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCTCTCCAGTGTGAATTCT	0.378																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(1174-1176)aCt>aAt		zinc finger protein 682							62.0	67.0	65.0					19																	20117136		2127	4261	6388	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117136G>T	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1175C>A	19.37:g.20117136G>T	ENSP00000380351:p.Thr392Asn					ZNF682_ENST00000358523.5_Missense_Mutation_p.T360N|ZNF682_ENST00000595736.1_Missense_Mutation_p.T316N|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Missense_Mutation_p.T360N|ZNF682_ENST00000597972.1_Missense_Mutation_p.T398N	p.T392N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	1335	-			392					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.1175C>A	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564670	0.45694	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	T;T;T	0.26067	1.76;1.76;1.76	1.09	1.09	0.20402	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40247	0.1109	L	0.56199	1.76	0.34418	D	0.697162	D	0.71674	0.998	D	0.76071	0.987	T	0.51718	-0.8670	9	0.72032	D	0.01	.	7.5768	0.27942	0.0:0.0:1.0:0.0	.	392	O95780	ZN682_HUMAN	N	392;360;61;360	ENSP00000380351:T392N;ENSP00000380348:T360N;ENSP00000351324:T360N	ENSP00000340236:T61N	T	-	2	0	ZNF682	19978136	0.999000	0.42202	0.738000	0.30950	0.717000	0.41224	3.016000	0.49607	0.488000	0.27723	0.491000	0.48974	ACT		0.378	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		25	35	1	0	9.57634e-11	1	1.18454e-10	25	35				
EPHX1	2052	broad.mit.edu	37	1	226026435	226026435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026435G>A	ENST00000366837.4	+	4	641	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.G149S	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	149					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GATGGTGCACGGCTGGCCCGG	0.582																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(445-447)Ggc>Agc		epoxide hydrolase 1, microsomal (xenobiotic)							94.0	96.0	95.0					1																	226026435		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026435G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.445G>A	1.37:g.226026435G>A	ENSP00000355802:p.Gly149Ser					EPHX1_ENST00000272167.5_Missense_Mutation_p.G149S	p.G149S	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	641	+	Breast(184;0.197)		149					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.445G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600556	0.96614	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000366837	T;T;T	0.56444	0.46;0.46;0.46	5.84	5.84	0.93424	Epoxide hydrolase, N-terminal (1);	0.050144	0.85682	D	0.000000	D	0.83243	0.5212	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88155	0.2853	10	0.87932	D	0	-16.2622	20.1278	0.97990	0.0:0.0:1.0:0.0	.	149	P07099	HYEP_HUMAN	S	149	ENSP00000398491:G149S;ENSP00000272167:G149S;ENSP00000355802:G149S	ENSP00000272167:G149S	G	+	1	0	EPHX1	224093058	1.000000	0.71417	0.971000	0.41717	0.741000	0.42261	9.707000	0.98725	2.768000	0.95171	0.561000	0.74099	GGC		0.582	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		73	55	0	0	0	1	0	73	55				
HAS3	3038	broad.mit.edu	37	16	69149137	69149137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69149137G>T	ENST00000306560.1	+	4	1786	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*	HAS3_ENST00000569188.1_Nonsense_Mutation_p.E544*|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	544					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAAGAAGCCGGAGCAGTACAG	0.557																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1630-1632)Gag>Tag		hyaluronan synthase 3							51.0	55.0	53.0					16																	69149137		2198	4300	6498	SO:0001587	stop_gained	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69149137G>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1630G>T	16.37:g.69149137G>T	ENSP00000304440:p.Glu544*					HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Nonsense_Mutation_p.E544*	p.E544*	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1786	+		Ovarian(137;0.101)	544					A8K5T5|Q8WTZ0|Q9NYP0	Nonsense_Mutation	SNP	ENST00000306560.1	37	c.1630G>T	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	37	6.403838	0.97537	.	.	ENSG00000103044	ENST00000306560	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-13.9344	19.9192	0.97079	0.0:0.0:1.0:0.0	.	.	.	.	X	544	.	ENSP00000304440:E544X	E	+	1	0	HAS3	67706638	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.535000	0.73838	2.882000	0.98803	0.655000	0.94253	GAG		0.557	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		4	60	1	0	0.217242	1	0.218821	4	60				
ZNF300	91975	broad.mit.edu	37	5	150276343	150276343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276343C>T	ENST00000274599.5	-	6	878	c.458G>A	c.(457-459)aGc>aAc	p.S153N	ZNF300_ENST00000394226.2_Missense_Mutation_p.S153N|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.S169N|ZNF300_ENST00000418587.2_Missense_Mutation_p.S117N	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTTTGCTGTTAACAAA	0.378																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(505-507)aGc>aAc		zinc finger protein 300							128.0	125.0	126.0					5																	150276343		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276343C>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.458G>A	5.37:g.150276343C>T	ENSP00000274599:p.Ser153Asn					ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S153N|ZNF300_ENST00000418587.2_Missense_Mutation_p.S117N|ZNF300_ENST00000394226.2_Missense_Mutation_p.S153N	p.S169N	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	933	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	153					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.506G>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	0.579	-0.837691	0.02692	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07908	3.21;3.21;3.15;3.22	2.71	0.49	0.16861	.	.	.	.	.	T	0.01765	0.0056	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46484	-0.9188	9	0.13108	T	0.6	.	2.1434	0.03780	0.2495:0.2492:0.0:0.5013	.	153	Q96RE9	ZN300_HUMAN	N	169;153;117;153	ENSP00000397178:S169N;ENSP00000274599:S153N;ENSP00000392593:S117N;ENSP00000377773:S153N	ENSP00000274599:S153N	S	-	2	0	ZNF300	150256536	0.000000	0.05858	0.014000	0.15608	0.039000	0.13416	-0.921000	0.04008	0.100000	0.17581	0.557000	0.71058	AGC		0.378	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		37	91	0	0	0	1	0	37	91				
SON	6651	broad.mit.edu	37	21	34939572	34939572	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34939572G>T	ENST00000356577.4	+	7	7242	c.6767G>T	c.(6766-6768)aGg>aTg	p.R2256M	SON_ENST00000290239.6_Splice_Site_p.R2256M|SON_ENST00000381692.2_Splice_Site_p.R284M	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2256					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCTCAGGAAAGGGTATGTAGC	0.353																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.e7+1		SON DNA binding protein							75.0	73.0	74.0					21																	34939572		2203	4300	6503	SO:0001630	splice_region_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34939572G>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6768+1G>T	21.37:g.34939572G>T						SON_ENST00000290239.6_Splice_Site_p.R2256_splice|SON_ENST00000381692.2_Splice_Site_p.R284_splice|AP000304.2_ENST00000439593.1_RNA	p.R2256_splice	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			7	7242	+			2256					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Splice_Site	SNP	ENST00000356577.4	37	c.6768_splice	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.098404|3.098404	0.56183|0.56183	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000381692;ENST00000421541	.|T;T	.|0.10668	.|2.86;2.85	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.52532	.|D	.|0.000063	.|T	.|0.12646	.|0.0307	N|N	0.03608|0.03608	-0.345|-0.345	0.40168|0.40168	D|D	0.977146|0.977146	.|D;P;D;P	.|0.89917	.|1.0;0.875;0.999;0.748	.|D;B;D;B	.|0.73380	.|0.98;0.271;0.956;0.444	.|T	.|0.29761	.|-1.0001	.|10	.|0.62326	.|D	.|0.03	.|.	10.4199|10.4199	0.44344|0.44344	0.1482:0.0:0.8518:0.0|0.1482:0.0:0.8518:0.0	.|.	.|2256;284;2256;1937	.|P18583-10;Q6ZRV7;P18583;P18583-2	.|.;.;SON_HUMAN;.	X|M	1251|2256;2256;284;317	.|ENSP00000348984:R2256M;ENSP00000290239:R2256M	.|ENSP00000290239:R2256M	G|R	+|+	1|2	0|0	SON|SON	33861442|33861442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.522000|5.522000	0.67092|0.67092	2.837000|2.837000	0.97791|0.97791	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.353	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	Missense_Mutation	9	39	1	0	0.0581538	1	0.0593651	9	39				
GRIK3	2899	broad.mit.edu	37	1	37356573	37356573	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37356573G>T	ENST00000373091.3	-	2	256	c.240C>A	c.(238-240)acC>acA	p.T80T	GRIK3_ENST00000373093.4_Silent_p.T80T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	80					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTATGTCATAGGTCAAGGTTG	0.547																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(238-240)acC>acA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						294.0	229.0	251.0					1																	37356573		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356573G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.240C>A	1.37:g.37356573G>T						GRIK3_ENST00000373093.4_Silent_p.T80T	p.T80T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			2	256	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	80					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.240C>A	CCDS416.1																																																																																				0.547	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		49	71	1	0	2.43468e-25	1	3.2359e-25	49	71				
GPR139	124274	broad.mit.edu	37	16	20043467	20043467	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043467G>T	ENST00000570682.1	-	2	952	c.652C>A	c.(652-654)Ctc>Atc	p.L218I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	218					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TAGCCACGGAGACGAAAATTG	0.512																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(652-654)Ctc>Atc		G protein-coupled receptor 139							86.0	86.0	86.0					16																	20043467		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043467G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.652C>A	16.37:g.20043467G>T	ENSP00000458791:p.Leu218Ile						p.L218I	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	952	-			218					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.652C>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216110	0.58452	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.39898	1.24	0.50813	D	0.999896	D	0.55172	0.97	P	0.53102	0.718	T	0.56517	-0.7966	9	0.39692	T	0.17	-53.7257	12.2344	0.54508	0.0772:0.0:0.9228:0.0	.	218	Q6DWJ6	GP139_HUMAN	I	218	.	ENSP00000370779:L218I	L	-	1	0	GPR139	19950968	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.244000	0.72391	2.708000	0.92522	0.655000	0.94253	CTC		0.512	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		23	40	1	0	6.32553e-13	1	7.99037e-13	23	40				
HSPG2	3339	broad.mit.edu	37	1	22181199	22181199	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181199C>A	ENST00000374695.3	-	49	6272	c.6193G>T	c.(6193-6195)Ggg>Tgg	p.G2065W	HSPG2_ENST00000430507.1_Missense_Mutation_p.G15W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2065	Ig-like C2-type 6.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGTGTTTGCCCTTCTGTCACA	0.642																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(6193-6195)Ggg>Tgg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						54.0	54.0	54.0					1																	22181199		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22181199C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6193G>T	1.37:g.22181199C>A	ENSP00000363827:p.Gly2065Trp					HSPG2_ENST00000430507.1_Missense_Mutation_p.G15W	p.G2065W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	49	6272	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2065			Ig-like C2-type 6.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.6193G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302685	0.60195	.	.	ENSG00000142798	ENST00000374695;ENST00000430507	D;D	0.81499	-1.5;-1.5	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38897	N	0.001538	D	0.94440	0.8211	H	0.99117	4.435	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96619	0.9458	10	0.87932	D	0	.	16.9895	0.86349	0.0:1.0:0.0:0.0	.	5;2065	Q59EG0;P98160	.;PGBM_HUMAN	W	2065;15	ENSP00000363827:G2065W;ENSP00000416385:G15W	ENSP00000363827:G2065W	G	-	1	0	HSPG2	22053786	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	6.009000	0.70745	2.620000	0.88729	0.561000	0.74099	GGG		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	10	1	0	2.0095e-06	1	2.31757e-06	6	10				
TMPRSS9	360200	broad.mit.edu	37	19	2405514	2405514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405514G>A	ENST00000332578.3	+	6	711	c.711G>A	c.(709-711)tgG>tgA	p.W237*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	237	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCAGGTGGCTGGTGTCTG	0.597																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(709-711)tgG>tgA		transmembrane protease, serine 9							79.0	75.0	77.0					19																	2405514		2203	4300	6503	SO:0001587	stop_gained	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2405514G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.711G>A	19.37:g.2405514G>A	ENSP00000330264:p.Trp237*						p.W237*	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	711	+			237			Peptidase S1 1.		Q6ZND6|Q7Z411	Nonsense_Mutation	SNP	ENST00000332578.3	37	c.711G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218192	0.58560	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.43	3.37	0.38596	.	0.000000	0.45867	D	0.000328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6758	0.56893	0.0:0.0:0.8333:0.1667	.	.	.	.	X	271;237	.	ENSP00000330264:W237X	W	+	3	0	TMPRSS9	2356514	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	9.617000	0.98361	0.968000	0.38212	0.484000	0.47621	TGG		0.597	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		8	38	0	0	0	1	0	8	38				
DNMT1	1786	broad.mit.edu	37	19	10277310	10277310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10277310G>A	ENST00000340748.4	-	10	1042	c.807C>T	c.(805-807)ggC>ggT	p.G269G	DNMT1_ENST00000359526.4_Silent_p.G285G|DNMT1_ENST00000540357.1_Silent_p.G269G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	269	Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CAGCCTGCACGCCTGCCCTGG	0.567																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(805-807)ggC>ggT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						114.0	95.0	101.0					19																	10277310		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10277310G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.807C>T	19.37:g.10277310G>A						DNMT1_ENST00000540357.1_Silent_p.G269G|DNMT1_ENST00000359526.4_Silent_p.G285G	p.G269G			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		10	1042	-			269			Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.807C>T	CCDS12228.1																																																																																				0.567	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		29	29	0	0	0	1	0	29	29				
MAP6	4135	broad.mit.edu	37	11	75298562	75298562	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75298562C>A	ENST00000304771.3	-	4	2734	c.1984G>T	c.(1984-1986)Ggt>Tgt	p.G662C	MAP6_ENST00000526740.1_Missense_Mutation_p.G333C|MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	662	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.G662R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCATGGAACCTTGATTCTTT	0.498																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			1	Substitution - Missense(1)	p.G662R(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1984-1986)Ggt>Tgt		microtubule-associated protein 6							167.0	152.0	157.0					11																	75298562		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298562C>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1984G>T	11.37:g.75298562C>A	ENSP00000307093:p.Gly662Cys					CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.G333C	p.G662C	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2734	-	Ovarian(111;0.11)		662			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1984G>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745084	0.49151	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.48836	0.8	5.01	4.02	0.46733	.	0.419287	0.20619	N	0.088818	T	0.48572	0.1507	M	0.62723	1.935	0.19775	N	0.999954	D	0.63880	0.993	P	0.49999	0.628	T	0.49011	-0.8983	10	0.56958	D	0.05	-0.2995	5.6979	0.17865	0.1943:0.7088:0.0:0.0969	.	662	Q96JE9	MAP6_HUMAN	C	662;333;333	ENSP00000307093:G662C	ENSP00000307093:G662C	G	-	1	0	MAP6	74976210	0.000000	0.05858	0.066000	0.19879	0.088000	0.18126	0.187000	0.16998	2.723000	0.93209	0.655000	0.94253	GGT		0.498	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		35	74	1	0	3.11337e-16	1	4.01248e-16	35	74				
PHYHIP	9796	broad.mit.edu	37	8	22085844	22085844	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22085844G>A	ENST00000321613.3	-	3	483	c.27C>T	c.(25-27)agC>agT	p.S9S	PHYHIP_ENST00000454243.2_Silent_p.S9S	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	9	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGATCTCAATGCTGTGGGGCG	0.577																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(25-27)agC>agT		phytanoyl-CoA 2-hydroxylase interacting protein							82.0	82.0	82.0					8																	22085844		2149	4255	6404	SO:0001819	synonymous_variant	9796							g.chr8:22085844G>A	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.27C>T	8.37:g.22085844G>A						PHYHIP_ENST00000321613.3_Silent_p.S9S	p.S9S	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	2	601	-			9			Fibronectin type-III.		D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	c.27C>T	CCDS43723.1																																																																																				0.577	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		3	7	0	0	0	1	0	3	7				
GRAMD1C	54762	broad.mit.edu	37	3	113655184	113655184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113655184C>T	ENST00000358160.4	+	14	2020	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.R239*|GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.R305*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.R343*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	510						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TACTGGCCTACGAAGGAGAAG	0.393																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(1528-1530)Cga>Tga		GRAM domain containing 1C							102.0	100.0	101.0					3																	113655184		2203	4300	6503	SO:0001587	stop_gained	54762					integral to membrane		g.chr3:113655184C>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1528C>T	3.37:g.113655184C>T	ENSP00000350881:p.Arg510*					GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.R305*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.R239*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.R343*|GRAMD1C_ENST00000479212.1_3'UTR	p.R510*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			14	2020	+			510					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Nonsense_Mutation	SNP	ENST00000358160.4	37	c.1528C>T	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	39	7.706081	0.98444	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	.	.	.	6.06	4.22	0.49857	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3743	0.55271	0.4436:0.5564:0.0:0.0	.	.	.	.	X	510;239;343;305;305	.	ENSP00000350881:R510X	R	+	1	2	GRAMD1C	115137874	0.083000	0.21467	0.712000	0.30502	0.747000	0.42532	0.401000	0.20948	0.835000	0.34877	0.655000	0.94253	CGA		0.393	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		25	51	0	0	0	1	0	25	51				
FAM160A2	84067	broad.mit.edu	37	11	6235765	6235765	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6235765C>T	ENST00000449352.2	-	11	2696	c.2433G>A	c.(2431-2433)gcG>gcA	p.A811A	FAM160A2_ENST00000265978.4_Silent_p.A825A|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGGAAGCCGCAAAGTTCT	0.532																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2473-2475)gcG>gcA		family with sequence similarity 160, member A2							118.0	120.0	119.0					11																	6235765		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6235765C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2433G>A	11.37:g.6235765C>T						FAM160A2_ENST00000449352.2_Silent_p.A811A|FAM160A2_ENST00000529360.1_5'UTR	p.A825A	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			11	2833	-			811					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.2475G>A	CCDS44530.1																																																																																				0.532	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		14	131	0	0	0	1	0	14	131				
JARID2	3720	broad.mit.edu	37	6	15487706	15487706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15487706C>T	ENST00000341776.2	+	6	1083	c.839C>T	c.(838-840)gCc>gTc	p.A280V	JARID2_ENST00000541660.1_Missense_Mutation_p.A242V|JARID2_ENST00000397311.3_Missense_Mutation_p.A108V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	280					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGTTCCTCGGCCAAGGGGCTT	0.652																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(838-840)gCc>gTc		jumonji, AT rich interactive domain 2							28.0	32.0	31.0					6																	15487706		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15487706C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.839C>T	6.37:g.15487706C>T	ENSP00000341280:p.Ala280Val					JARID2_ENST00000397311.3_Missense_Mutation_p.A108V|JARID2_ENST00000541660.1_Missense_Mutation_p.A242V	p.A280V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			6	1083	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	280					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.839C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011452	0.54468	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.35973	1.28;1.28;1.28	5.17	5.17	0.71159	.	0.161648	0.53938	D	0.000051	T	0.16257	0.0391	N	0.19112	0.55	0.48341	D	0.999636	B;B;B	0.33964	0.05;0.434;0.1	B;B;B	0.29862	0.039;0.108;0.033	T	0.06899	-1.0801	10	0.56958	D	0.05	-8.693	19.0084	0.92861	0.0:1.0:0.0:0.0	.	242;144;280	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	V	144;280;108;242	ENSP00000341280:A280V;ENSP00000380478:A108V;ENSP00000444623:A242V	ENSP00000341280:A280V	A	+	2	0	JARID2	15595685	0.999000	0.42202	0.998000	0.56505	0.320000	0.28249	3.172000	0.50832	2.556000	0.86216	0.561000	0.74099	GCC		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		15	22	0	0	0	1	0	15	22				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701866	74701866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74701866G>A	ENST00000370899.3	+	4	461	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.E142K|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.E142K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E41K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E142K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E155K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CAAGGAAAAAGAACTGACAGA	0.299																																						ENST00000370895.1																			0											c.(424-426)Gaa>Aaa									95.0	98.0	97.0					1																	74701866		2203	4297	6500	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74701866G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.424G>A	1.37:g.74701866G>A	ENSP00000359936:p.Glu142Lys					TNNI3K_ENST00000370891.2_Missense_Mutation_p.E142K|TNNI3K_ENST00000370893.1_Missense_Mutation_p.E142K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E142K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E142K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E41K	p.E142K			Q59H18	TNI3K_HUMAN			4	459	+			41						Missense_Mutation	SNP	ENST00000370899.3	37	c.424G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.543257	0.86022	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000370893;ENST00000326637	T;T;T;T;T	0.74632	-0.86;-0.57;-0.86;-0.86;-0.82	5.54	5.54	0.83059	.	0.060076	0.64402	D	0.000004	T	0.70020	0.3176	L	0.34521	1.04	0.53688	D	0.999975	P;P;P;D	0.55385	0.498;0.885;0.631;0.971	B;B;B;P	0.53062	0.115;0.31;0.229;0.717	T	0.70554	-0.4840	10	0.44086	T	0.13	.	19.4886	0.95040	0.0:0.0:1.0:0.0	.	41;142;142;142	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	K	142;142;142;142;142;41	ENSP00000359936:E142K;ENSP00000359932:E142K;ENSP00000450895:E142K;ENSP00000359928:E142K;ENSP00000322251:E41K	ENSP00000322251:E41K	E	+	1	0	RP11-653A5.2;AC093158.1	74474454	1.000000	0.71417	0.995000	0.50966	0.862000	0.49288	8.115000	0.89572	2.612000	0.88384	0.585000	0.79938	GAA		0.299	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			13	31	0	0	0	1	0	13	31				
TEX43	389320	broad.mit.edu	37	5	125967491	125967491	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967491G>T	ENST00000357147.3	+	1	78	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		22										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCTGATGAGAGTCTCTATAAA	0.393																																						ENST00000357147.3																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(64-66)aGt>aTt		chromosome 5 open reading frame 48							175.0	159.0	165.0					5																	125967491		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125967491G>T																												ENST00000357147.3:c.65G>T	5.37:g.125967491G>T	ENSP00000349669:p.Ser22Ile						p.S22I	NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN			1	78	+			22						Missense_Mutation	SNP	ENST00000357147.3	37	c.65G>T	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	G	9.312	1.055774	0.19907	.	.	ENSG00000196900	ENST00000357147	.	.	.	3.68	-2.82	0.05787	.	0.632857	0.14261	N	0.330833	T	0.25306	0.0615	N	0.24115	0.695	0.09310	N	1	P	0.39883	0.693	B	0.43783	0.431	T	0.24621	-1.0155	9	0.72032	D	0.01	-4.4816	8.4012	0.32588	0.5713:0.0:0.4287:0.0	.	22	Q6ZNM6	CE048_HUMAN	I	22	.	ENSP00000349669:S22I	S	+	2	0	C5orf48	125995390	0.002000	0.14202	0.018000	0.16275	0.017000	0.09413	-0.474000	0.06607	-0.532000	0.06332	-0.291000	0.09656	AGT		0.393	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			21	51	1	0	3.51602e-12	1	4.4132e-12	21	51				
MROH5	389690	broad.mit.edu	37	8	142476636	142476636	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142476636G>T	ENST00000430863.1	-	0	2430					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CACAGGCGGAGGCGGATGGCC	0.662																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							59.0	70.0	67.0					8																	142476636		2113	4213	6326			389690							g.chr8:142476636G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142476636G>T								NM_207414.2	NP_997297.2					0	2430	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.662	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		3	19	1	0	0.004672	1	0.0049138	3	19				
HSPA1L	3305	broad.mit.edu	37	6	31779560	31779560	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31779560T>G	ENST00000375654.4	-	2	379	c.190A>C	c.(190-192)Aat>Cat	p.N64H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.N64H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	64					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTCTGGGGATTCATTGCTACC	0.507																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)Aat>Cat		heat shock 70kDa protein 1-like							140.0	128.0	132.0					6																	31779560		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31779560T>G	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.190A>C	6.37:g.31779560T>G	ENSP00000364805:p.Asn64His					HSPA1L_ENST00000417199.3_Missense_Mutation_p.N64H	p.N64H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	379	-			64					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.190A>C	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606810	0.46527	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01505	4.82;4.82	4.52	4.52	0.55395	.	.	.	.	.	T	0.11110	0.0271	H	0.97440	4.005	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.02009	-1.1230	9	0.87932	D	0	.	11.8399	0.52348	0.0:0.0:0.0:1.0	.	64	P34931	HS71L_HUMAN	H	64	ENSP00000364805:N64H;ENSP00000387691:N64H	ENSP00000364804:N64H	N	-	1	0	HSPA1L	31887539	1.000000	0.71417	0.996000	0.52242	0.520000	0.34377	6.028000	0.70889	1.878000	0.54408	0.377000	0.23210	AAT		0.507	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			54	66	0	0	0	1	0	54	66				
NOX1	27035	broad.mit.edu	37	X	100117425	100117425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100117425G>A	ENST00000372966.3	-	6	832	c.627C>T	c.(625-627)caC>caT	p.H209H	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.H172H|NOX1_ENST00000217885.5_Silent_p.H209H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	209	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGATAAAAAGGTGGTGAGTAT	0.443																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(625-627)caC>caT		NADPH oxidase 1							169.0	166.0	167.0					X																	100117425		2203	4299	6502	SO:0001819	synonymous_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117425G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.627C>T	X.37:g.100117425G>A						NOX1_ENST00000217885.5_Silent_p.H209H|NOX1_ENST00000372960.4_Silent_p.H172H|NOX1_ENST00000372964.1_Intron	p.H209H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			6	832	-			209			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	c.627C>T	CCDS14474.1																																																																																				0.443	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		105	168	0	0	0	1	0	105	168				
PLXNA2	5362	broad.mit.edu	37	1	208215502	208215502	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215502G>T	ENST00000367033.3	-	22	4984	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1409					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAGGTCAGAGAGCAGCTGCT	0.607																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4225-4227)ctC>ctA		plexin A2							84.0	84.0	84.0					1																	208215502		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208215502G>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4227C>A	1.37:g.208215502G>T							p.L1409L	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	22	4984	-			1409					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.4227C>A	CCDS31013.1																																																																																				0.607	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		23	43	1	0	8.04996e-18	1	1.04647e-17	23	43				
SPTBN1	6711	broad.mit.edu	37	2	54849603	54849603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54849603G>A	ENST00000356805.4	+	9	1324	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R335H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	348					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACACTTACCGCACTGTGGAG	0.423																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1003-1005)cGc>cAc		spectrin, beta, non-erythrocytic 1							127.0	121.0	123.0					2																	54849603		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54849603G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1043G>A	2.37:g.54849603G>A	ENSP00000349259:p.Arg348His					SPTBN1_ENST00000356805.4_Missense_Mutation_p.R348H	p.R335H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		8	1389	+			348					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1004G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765951	0.96914	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.52983	0.64;0.64;0.64	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	H	0.96111	3.77	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70716	0.942;0.97	D	0.85704	0.1315	10	0.87932	D	0	.	20.0989	0.97860	0.0:0.0:1.0:0.0	.	335;348	Q01082-3;Q01082	.;SPTB2_HUMAN	H	348;348;335	ENSP00000349259:R348H;ENSP00000374630:R348H;ENSP00000334156:R335H	ENSP00000334156:R335H	R	+	2	0	SPTBN1	54703107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.764000	0.94973	0.650000	0.86243	CGC		0.423	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			29	59	0	0	0	1	0	29	59				
SF3B1	23451	broad.mit.edu	37	2	198273264	198273264	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198273264T>C	ENST00000335508.6	-	8	1037	c.946A>G	c.(946-948)Aca>Gca	p.T316A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	316	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTCGATCTGTTCGAGGAGTC	0.423			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(946-948)Aca>Gca		splicing factor 3b, subunit 1, 155kDa							72.0	75.0	74.0					2																	198273264		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198273264T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.946A>G	2.37:g.198273264T>C	ENSP00000335321:p.Thr316Ala						p.T316A	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		8	1037	-			316			Interaction with PPP1R8.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.946A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	9.647	1.140423	0.21205	.	.	ENSG00000115524	ENST00000335508	.	.	.	4.67	4.67	0.58626	Splicing factor 3B subunit 1 (1);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	L	0.31065	0.9	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.30387	-0.9980	9	0.06494	T	0.89	.	14.5576	0.68113	0.0:0.0:0.0:1.0	.	316	O75533	SF3B1_HUMAN	A	316	.	ENSP00000335321:T316A	T	-	1	0	SF3B1	197981509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.732000	0.84908	2.087000	0.62958	0.459000	0.35465	ACA		0.423	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			10	63	0	0	0	1	0	10	63				
MAP2	4133	broad.mit.edu	37	2	210559779	210559779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559779C>T	ENST00000360351.4	+	7	3391	c.2885C>T	c.(2884-2886)aCt>aTt	p.T962I	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T958I|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	962					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGGTTGGATACTGTACTAGAA	0.403																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2884-2886)aCt>aTt		microtubule-associated protein 2	Estramustine(DB01196)						88.0	89.0	89.0					2																	210559779		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559779C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2885C>T	2.37:g.210559779C>T	ENSP00000353508:p.Thr962Ile					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T958I	p.T962I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3391	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	962					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2885C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874397	0.51695	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.23754	1.89;1.89	5.79	5.79	0.91817	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.51024	0.1650	L	0.59436	1.845	0.47621	D	0.999476	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.46400	-0.9194	10	0.72032	D	0.01	-17.9839	20.0256	0.97521	0.0:1.0:0.0:0.0	.	958;962	P11137-3;P11137	.;MAP2_HUMAN	I	962;958	ENSP00000353508:T962I;ENSP00000392164:T958I	ENSP00000353508:T962I	T	+	2	0	MAP2	210268024	0.952000	0.32445	0.999000	0.59377	0.265000	0.26407	2.100000	0.41777	2.737000	0.93849	0.650000	0.86243	ACT		0.403	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		28	52	0	0	0	1	0	28	52				
MAP3K8	1326	broad.mit.edu	37	10	30747036	30747036	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30747036C>T	ENST00000263056.1	+	7	1593	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP3K8_ENST00000542547.1_Silent_p.I299I|MAP3K8_ENST00000375321.1_Silent_p.I299I	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAGAGGTCATCCTGTGCAGGG	0.537																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(895-897)atC>atT		mitogen-activated protein kinase kinase kinase 8							92.0	93.0	93.0					10																	30747036		2203	4300	6503	SO:0001819	synonymous_variant	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30747036C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.897C>T	10.37:g.30747036C>T						MAP3K8_ENST00000542547.1_Silent_p.I299I|MAP3K8_ENST00000375321.1_Silent_p.I299I	p.I299I	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			7	1593	+		Prostate(175;0.151)	299			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	c.897C>T	CCDS7166.1																																																																																				0.537	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		12	32	0	0	0	1	0	12	32				
TMEM252	169693	broad.mit.edu	37	9	71152347	71152347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71152347G>A	ENST00000377311.3	-	2	393	c.341C>T	c.(340-342)gCa>gTa	p.A114V		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	114						integral component of membrane (GO:0016021)											CTCTCTCTCTGCAGGACAGCT	0.512																																						ENST00000377311.3																			0											c.(340-342)gCa>gTa		transmembrane protein 252							60.0	62.0	61.0					9																	71152347		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71152347G>A	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.341C>T	9.37:g.71152347G>A	ENSP00000366528:p.Ala114Val						p.A114V	NM_153237.1	NP_694969.1					2	393	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.341C>T	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390222	0.42410	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.96	1.89	0.25635	.	1.015900	0.07851	N	0.964696	T	0.36744	0.0978	L	0.56769	1.78	0.09310	N	1	B	0.26081	0.141	B	0.26202	0.067	T	0.41305	-0.9516	9	0.56958	D	0.05	-1.9539	2.4793	0.04583	0.2124:0.1288:0.5258:0.1331	.	114	Q8N6L7	CI071_HUMAN	V	114	.	ENSP00000366528:A114V	A	-	2	0	C9orf71	70342167	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	0.237000	0.17985	0.399000	0.25367	-0.140000	0.14226	GCA		0.512	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		15	27	0	0	0	1	0	15	27				
PIWIL1	9271	broad.mit.edu	37	12	130846069	130846069	+	Silent	SNP	C	C	T	rs35377726	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130846069C>T	ENST00000245255.3	+	16	2165	c.1893C>T	c.(1891-1893)atC>atT	p.I631I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	631	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTTGGCATCGATTGTTACC	0.433													C|||	4	0.000798722	0.003	0.0	5008	,	,		20151	0.0		0.0	False		,,,				2504	0.0					ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1891-1893)atC>atT		piwi-like RNA-mediated gene silencing 1		C	,	19,4387	26.2+/-53.5	0,19,2184	216.0	186.0	196.0		1893,1893	-11.4	0.0	12	dbSNP_126	196	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PIWIL1	NM_001190971.1,NM_004764.4	,	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	,	631/830,631/862	130846069	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130846069C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1893C>T	12.37:g.130846069C>T							p.I631I	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	16	2165	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		631			Piwi.|RNA-binding (By similarity).		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.1893C>T	CCDS9268.1																																																																																				0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			14	103	0	0	0	1	0	14	103				
SENP3	26168	broad.mit.edu	37	17	7468005	7468005	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7468005G>T	ENST00000429205.2	+	3	828	c.779G>T	c.(778-780)aGc>aTc	p.S260I	SENP3_ENST00000321337.7_Missense_Mutation_p.S260I|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	260						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGGGAGCGCAGCTTGGCACCC	0.572																																						ENST00000321337.7																			0				central_nervous_system(1)|ovary(1)	2						c.(778-780)aGc>aTc		SUMO1/sentrin/SMT3 specific peptidase 3							66.0	63.0	64.0					17																	7468005		1951	4167	6118	SO:0001583	missense	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7468005G>T	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.779G>T	17.37:g.7468005G>T	ENSP00000403712:p.Ser260Ile					SENP3_ENST00000429205.2_Missense_Mutation_p.S260I|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR	p.S260I	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN			3	1099	+		Prostate(122;0.157)	260					Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37	c.779G>T		.	.	.	.	.	.	.	.	.	.	G	13.21	2.167896	0.38315	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.36520	1.25;1.25	5.98	1.78	0.24846	.	0.379293	0.28312	N	0.015810	T	0.18130	0.0435	N	0.14661	0.345	0.22989	N	0.998469	P	0.41214	0.742	B	0.35413	0.202	T	0.09796	-1.0658	10	0.66056	D	0.02	-0.0737	8.2733	0.31857	0.317:0.0:0.683:0.0	.	260	Q9H4L4	SENP3_HUMAN	I	260	ENSP00000314029:S260I;ENSP00000403712:S260I	ENSP00000314029:S260I	S	+	2	0	SENP3	7408729	0.002000	0.14202	0.983000	0.44433	0.917000	0.54804	0.328000	0.19681	0.128000	0.18479	-0.216000	0.12614	AGC		0.572	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		18	25	1	0	1.85244e-09	1	2.25385e-09	18	25				
LRWD1	222229	broad.mit.edu	37	7	102110021	102110021	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102110021C>T	ENST00000292616.5	+	10	1381	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	410					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCTCTTCAGCGGCCTCCTAT	0.647																																						ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.e10-1		leucine-rich repeats and WD repeat domain containing 1							106.0	97.0	100.0					7																	102110021		2203	4300	6503	SO:0001630	splice_region_variant	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102110021C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1229-1C>T	7.37:g.102110021C>T							p.T410_splice	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			10	1381	+			410					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Splice_Site	SNP	ENST00000292616.5	37	c.1228_splice	CCDS34715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.393833|3.393833	0.62066|0.62066	.|.	.|.	ENSG00000161036|ENSG00000161036	ENST00000488689|ENST00000292616	.|T	.|0.68181	.|-0.31	4.71|4.71	3.83|3.83	0.44106|0.44106	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.046566	.|0.85682	.|N	.|0.000000	D|D	0.84777|0.84777	0.5547|0.5547	M|M	0.93678|0.93678	3.445|3.445	0.52099|0.52099	D|D	0.999946|0.999946	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	D|D	0.87932|0.87932	0.2711|0.2711	5|9	.|.	.|.	.|.	.|.	12.1931|12.1931	0.54282|0.54282	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	.|410	.|Q9UFC0	.|LRWD1_HUMAN	W|M	39|410	.|ENSP00000292616:T410M	.|.	R|T	+|+	1|2	2|0	LRWD1|LRWD1	101897026|101897026	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.866000|0.866000	0.49608|0.49608	5.576000|5.576000	0.67437|0.67437	1.214000|1.214000	0.43395|0.43395	0.491000|0.491000	0.48974|0.48974	CGG|ACG		0.647	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	Missense_Mutation	26	67	0	0	0	1	0	26	67				
ADD3	120	broad.mit.edu	37	10	111892062	111892062	+	Splice_Site	SNP	G	G	T	rs147358716		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111892062G>T	ENST00000356080.4	+	14	2099		c.e14-1		ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)							cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTATCCAACAGATGCTGAGCA	0.383																																						ENST00000356080.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.e14-1		adducin 3 (gamma)							83.0	81.0	82.0					10																	111892062		2203	4300	6503	SO:0001630	splice_region_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111892062G>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1733-1G>T	10.37:g.111892062G>T						ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron		NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	14	2099	+		Breast(234;0.052)|Lung NSC(174;0.223)						D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Splice_Site	SNP	ENST00000356080.4	37		CCDS7561.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300028	0.81136	.	.	ENSG00000148700	ENST00000356080	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4226	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADD3	111882052	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.743000	0.85020	2.593000	0.87608	0.655000	0.94253	.		0.383	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903	Intron	11	51	1	0	0.000673444	1	0.000724755	11	51				
ALPK2	115701	broad.mit.edu	37	18	56202619	56202619	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56202619G>T	ENST00000361673.3	-	5	5013	c.4800C>A	c.(4798-4800)ccC>ccA	p.P1600P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1600						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGAGAAGAGGGCAAAGGTT	0.433																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(4798-4800)ccC>ccA		alpha-kinase 2							94.0	89.0	90.0					18																	56202619		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202619G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4800C>A	18.37:g.56202619G>T							p.P1600P	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	5013	-			1600					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.4800C>A	CCDS11966.2																																																																																				0.433	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		30	63	1	0	2.4375e-19	1	3.18921e-19	30	63				
HERC2	8924	broad.mit.edu	37	15	28463781	28463781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28463781G>A	ENST00000261609.7	-	38	5990	c.5882C>T	c.(5881-5883)gCa>gTa	p.A1961V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAACATCATTGCAGTGGGGTG	0.388																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5881-5883)gCa>gTa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							40.0	48.0	45.0					15																	28463781		1353	2280	3633	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463781G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5882C>T	15.37:g.28463781G>A	ENSP00000261609:p.Ala1961Val						p.A1961V	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	5990	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1961						Missense_Mutation	SNP	ENST00000261609.7	37	c.5882C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746121	0.30955	.	.	ENSG00000128731	ENST00000261609	T	0.38722	1.12	4.4	4.4	0.53042	.	0.300651	0.32343	N	0.006226	T	0.34106	0.0886	L	0.29908	0.895	0.49483	D	0.999797	B	0.23377	0.084	B	0.21360	0.034	T	0.13150	-1.0520	10	0.40728	T	0.16	.	17.548	0.87867	0.0:0.0:1.0:0.0	.	1961	O95714	HERC2_HUMAN	V	1961	ENSP00000261609:A1961V	ENSP00000261609:A1961V	A	-	2	0	HERC2	26137376	0.998000	0.40836	0.177000	0.23020	0.198000	0.23893	6.225000	0.72271	2.443000	0.82685	0.650000	0.86243	GCA		0.388	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		24	54	0	0	0	1	0	24	54				
MTMR4	9110	broad.mit.edu	37	17	56581192	56581192	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56581192G>T	ENST00000323456.5	-	15	1848	c.1724C>A	c.(1723-1725)tCt>tAt	p.S575Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.S518Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	575					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGCATGGAGATGATGCTGG	0.537																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1723-1725)tCt>tAt		myotubularin related protein 4							140.0	137.0	138.0					17																	56581192		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56581192G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1724C>A	17.37:g.56581192G>T	ENSP00000325285:p.Ser575Tyr					MTMR4_ENST00000579925.1_Missense_Mutation_p.S518Y	p.S575Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			15	1848	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		575					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1724C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786659	0.90367	.	.	ENSG00000108389	ENST00000323456	D	0.93659	-3.26	5.98	5.98	0.97165	.	0.374513	0.31268	N	0.007951	D	0.96534	0.8869	M	0.73372	2.23	0.58432	D	0.999997	D	0.89917	1.0	D	0.77557	0.99	D	0.96439	0.9325	10	0.87932	D	0	.	19.4248	0.94737	0.0:0.0:1.0:0.0	.	575	Q9NYA4	MTMR4_HUMAN	Y	575	ENSP00000325285:S575Y	ENSP00000325285:S575Y	S	-	2	0	MTMR4	53936191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.837000	0.97791	0.591000	0.81541	TCT		0.537	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		60	107	1	0	1.07751e-37	1	1.45174e-37	60	107				
AIM1	202	broad.mit.edu	37	6	106968990	106968990	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106968990C>A	ENST00000369066.3	+	2	3170	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACAGTCAAATCTTCTGCCCGA	0.463																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2683-2685)Ctt>Att		absent in melanoma 1							91.0	97.0	95.0					6																	106968990		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968990C>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2683C>A	6.37:g.106968990C>A	ENSP00000358062:p.Leu895Ile						p.L895I	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3170	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	895					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2683C>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427436	0.25726	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72167	-0.63	5.69	4.77	0.60923	.	0.800042	0.11239	N	0.584798	T	0.56673	0.2001	L	0.52266	1.64	0.24851	N	0.992408	P	0.49090	0.919	P	0.47015	0.534	T	0.50491	-0.8822	10	0.46703	T	0.11	.	9.0378	0.36298	0.0:0.77:0.1506:0.0794	.	895	Q9Y4K1	AIM1_HUMAN	I	1303;895	ENSP00000358062:L895I	ENSP00000285105:L1303I	L	+	1	0	AIM1	107075683	0.000000	0.05858	0.093000	0.20910	0.926000	0.56050	0.510000	0.22723	2.725000	0.93324	0.644000	0.83932	CTT		0.463	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			33	63	1	0	1.56738e-10	1	1.93657e-10	33	63				
NKTR	4820	broad.mit.edu	37	3	42680894	42680894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42680894G>A	ENST00000232978.8	+	13	3886	c.3698G>A	c.(3697-3699)gGg>gAg	p.G1233E	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1233					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGTGTGGGGAACCTGGCA	0.498																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3697-3699)gGg>gAg		natural killer-tumor recognition sequence							79.0	89.0	85.0					3																	42680894		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680894G>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3698G>A	3.37:g.42680894G>A	ENSP00000232978:p.Gly1233Glu					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.G1233E	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3886	+			1233						Missense_Mutation	SNP	ENST00000232978.8	37	c.3698G>A	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976443	0.53720	.	.	ENSG00000114857	ENST00000232978	T	0.80909	-1.43	5.22	5.22	0.72569	.	0.235442	0.43579	D	0.000545	D	0.89750	0.6805	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.79108	0.992;0.84	D	0.90660	0.4589	10	0.87932	D	0	-18.8579	19.1382	0.93436	0.0:0.0:1.0:0.0	.	933;1233	Q6M1B8;P30414	.;NKTR_HUMAN	E	1233	ENSP00000232978:G1233E	ENSP00000232978:G1233E	G	+	2	0	NKTR	42655898	1.000000	0.71417	0.955000	0.39395	0.943000	0.58893	5.328000	0.65887	2.594000	0.87642	0.563000	0.77884	GGG		0.498	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		29	26	0	0	0	1	0	29	26				
ATP13A3	79572	broad.mit.edu	37	3	194154501	194154501	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194154501C>A	ENST00000439040.1	-	21	3036	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	ATP13A3_ENST00000256031.4_Splice_Site_p.G749C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	749						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGTCTAACCTGTGACCATG	0.333																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.e21+1		ATPase type 13A3							157.0	142.0	147.0					3																	194154501		1851	4096	5947	SO:0001630	splice_region_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194154501C>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2245+1G>T	3.37:g.194154501C>A						ATP13A3_ENST00000256031.4_Splice_Site_p.G749_splice	p.G749_splice			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	21	3036	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	749					Q8NC11|Q96KS1	Splice_Site	SNP	ENST00000439040.1	37	c.2245_splice	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155285	0.94686	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.75821	-0.97;-0.97	5.86	5.86	0.93980	HAD-like domain (2);	0.047458	0.85682	D	0.000000	D	0.92195	0.7525	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94359	0.7586	9	.	.	.	-0.0217	20.1802	0.98196	0.0:1.0:0.0:0.0	.	749	Q9H7F0	AT133_HUMAN	C	749;749;487	ENSP00000416508:G749C;ENSP00000256031:G749C	.	G	-	1	0	ATP13A3	195635790	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GGT		0.333	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	Missense_Mutation	6	86	1	0	2.0095e-06	1	2.31757e-06	6	86				
USP35	57558	broad.mit.edu	37	11	77921496	77921496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921496C>A	ENST00000529308.1	+	10	2856	c.2595C>A	c.(2593-2595)tgC>tgA	p.C865*	USP35_ENST00000526425.1_Nonsense_Mutation_p.C596*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Nonsense_Mutation_p.C451*|USP35_ENST00000530267.1_Nonsense_Mutation_p.C433*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	865	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTACTACTGCTATGCCCGTG	0.627																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2593-2595)tgC>tgA		ubiquitin specific peptidase 35							134.0	138.0	137.0					11																	77921496		2002	4166	6168	SO:0001587	stop_gained	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921496C>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2595C>A	11.37:g.77921496C>A	ENSP00000431876:p.Cys865*					USP35_ENST00000526425.1_Nonsense_Mutation_p.C596*|USP35_ENST00000441408.2_Nonsense_Mutation_p.C451*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Nonsense_Mutation_p.C433*	p.C865*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2856	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		865						Nonsense_Mutation	SNP	ENST00000529308.1	37	c.2595C>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	43	10.119804	0.99340	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	.	.	.	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-40.8507	11.5235	0.50565	0.0:0.9181:0.0:0.0819	.	.	.	.	X	433;865;451;596	.	ENSP00000400825:C451X	C	+	3	2	USP35	77599144	0.997000	0.39634	1.000000	0.80357	0.928000	0.56348	0.494000	0.22467	2.491000	0.84063	0.491000	0.48974	TGC		0.627	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		11	144	1	0	1.08611e-07	1	1.2824e-07	11	144				
ZNF721	170960	broad.mit.edu	37	4	437125	437125	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:437125A>G	ENST00000338977.5	-	2	1143	c.1095T>C	c.(1093-1095)aaT>aaC	p.N365N	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.N377N			Q8TF20	ZN721_HUMAN	zinc finger protein 721	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTTGTGTTGATTCAGGGCTG	0.408																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1093-1095)aaT>aaC		zinc finger protein 721							100.0	106.0	104.0					4																	437125		2143	4271	6414	SO:0001819	synonymous_variant	170960							g.chr4:437125A>G	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1095T>C	4.37:g.437125A>G						ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.N377N|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron	p.N365N							2	1143	-								Q69YG7	Silent	SNP	ENST00000338977.5	37	c.1095T>C																																																																																					0.408	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		19	40	0	0	0	1	0	19	40				
SPAG17	200162	broad.mit.edu	37	1	118640381	118640381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118640381G>T	ENST00000336338.5	-	7	988	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	308						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGTTTCAGGTTTCTCATT	0.373																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(922-924)cCt>cAt		sperm associated antigen 17							185.0	167.0	173.0					1																	118640381		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640381G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.923C>A	1.37:g.118640381G>T	ENSP00000337804:p.Pro308His						p.P308H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	988	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	308					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.923C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628340	0.46944	.	.	ENSG00000155761	ENST00000336338	T	0.53206	0.63	5.3	4.37	0.52481	.	0.443128	0.24705	N	0.036265	T	0.22820	0.0551	L	0.47716	1.5	0.24477	N	0.994369	P	0.46277	0.875	P	0.45037	0.467	T	0.08351	-1.0726	10	0.12766	T	0.61	.	10.1952	0.43049	0.0742:0.0:0.7831:0.1427	.	308	Q6Q759	SPG17_HUMAN	H	308	ENSP00000337804:P308H	ENSP00000337804:P308H	P	-	2	0	SPAG17	118441904	0.999000	0.42202	0.998000	0.56505	0.946000	0.59487	2.233000	0.43027	1.177000	0.42855	0.650000	0.86243	CCT		0.373	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		6	66	1	0	0.0477658	1	0.0488009	6	66				
ZNF280D	54816	broad.mit.edu	37	15	56923983	56923983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56923983G>A	ENST00000267807.7	-	22	2869	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*	ZNF280D_ENST00000559237.1_Nonsense_Mutation_p.R872*|RP11-1129I3.1_ENST00000562300.1_RNA	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	885					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GATGCTAATCGCAAATCCTTA	0.343																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(2614-2616)Cga>Tga		zinc finger protein 280D							118.0	116.0	117.0					15																	56923983		2192	4292	6484	SO:0001587	stop_gained	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56923983G>A	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2653C>T	15.37:g.56923983G>A	ENSP00000267807:p.Arg885*					ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.R885*	p.R872*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	21	3297	-			885					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Nonsense_Mutation	SNP	ENST00000267807.7	37	c.2614C>T	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	37	6.381093	0.97520	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	.	.	.	5.93	3.93	0.45458	.	15.974000	0.00166	N	0.000000	.	.	.	.	.	.	0.24936	N	0.991884	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.1248	6.7893	0.23692	0.09:0.0:0.5842:0.3257	.	.	.	.	X	885;872	.	ENSP00000267807:R885X	R	-	1	2	ZNF280D	54711275	0.053000	0.20554	0.113000	0.21522	0.684000	0.39900	1.041000	0.30291	1.515000	0.48885	0.563000	0.77884	CGA		0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		21	51	0	0	0	1	0	21	51				
TMEM123	114908	broad.mit.edu	37	11	102272907	102272907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102272907G>A	ENST00000398136.2	-	3	608	c.188C>T	c.(187-189)aCa>aTa	p.T63I	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.T44I	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	63	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		AGTTTCATTTGTATGGTCAGA	0.413																																						ENST00000398136.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(187-189)aCa>aTa		transmembrane protein 123							221.0	201.0	208.0					11																	102272907		1983	4153	6136	SO:0001583	missense	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272907G>A	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.188C>T	11.37:g.102272907G>A	ENSP00000381204:p.Thr63Ile					TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.T44I	p.T63I	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	608	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	63			Thr-rich.		Q8IWS2|Q96QV2	Missense_Mutation	SNP	ENST00000398136.2	37	c.188C>T	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245664	0.59103	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000526676	T;T;T	0.52754	1.8;1.56;0.65	5.49	-5.55	0.02536	.	0.698316	0.12983	N	0.423121	T	0.22975	0.0555	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.17268	0.017;0.021	B;B	0.18263	0.018;0.021	T	0.12016	-1.0564	10	0.52906	T	0.07	-0.8151	0.6329	0.00797	0.2853:0.3105:0.1773:0.2269	.	44;63	Q8N131-2;Q8N131	.;PORIM_HUMAN	I	44;63;21	ENSP00000355285:T44I;ENSP00000381204:T63I;ENSP00000435842:T21I	ENSP00000355285:T44I	T	-	2	0	TMEM123	101778117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.619000	0.05572	-1.123000	0.02940	0.655000	0.94253	ACA		0.413	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		50	60	0	0	0	1	0	50	60				
RBMS1	5937	broad.mit.edu	37	2	161159998	161159998	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:161159998G>A	ENST00000348849.3	-	5	833	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	RBMS1_ENST00000409972.1_Splice_Site_p.Q102*|RBMS1_ENST00000409075.1_Splice_Site_p.Q102*|RBMS1_ENST00000409289.2_Splice_Site_p.Q102*|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Splice_Site_p.Q135*	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	135	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TGTTCCTGTTGCTAAAACAGA	0.358																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.e5-1		RNA binding motif, single stranded interacting protein 1							112.0	106.0	108.0					2																	161159998		2203	4300	6503	SO:0001630	splice_region_variant	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161159998G>A	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.403-1C>T	2.37:g.161159998G>A						RBMS1_ENST00000409972.1_Splice_Site_p.Q102_splice|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Splice_Site_p.Q102_splice|RBMS1_ENST00000409075.1_Splice_Site_p.Q102_splice|RBMS1_ENST00000392753.3_Splice_Site_p.Q135_splice	p.Q135_splice	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			5	833	-			135			RRM 1.		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Splice_Site	SNP	ENST00000348849.3	37	c.402_splice	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278911	0.95489	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	.	.	.	X	135;102;102;135;102;102	.	ENSP00000294904:Q135X	Q	-	1	0	RBMS1	160868244	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.738000	0.93877	0.655000	0.94253	CAA		0.358	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836	Nonsense_Mutation	9	88	0	0	0	1	0	9	88				
VPS36	51028	broad.mit.edu	37	13	53013245	53013245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53013245C>T	ENST00000378060.4	-	3	251	c.224G>A	c.(223-225)gGa>gAa	p.G75E	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	75	GLUE N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTTCCCAATTCCAGCCGCCTG	0.403																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(223-225)gGa>gAa		vacuolar protein sorting 36 homolog (S. cerevisiae)							99.0	89.0	92.0					13																	53013245		2203	4300	6503	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53013245C>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.224G>A	13.37:g.53013245C>T	ENSP00000367299:p.Gly75Glu					VPS36_ENST00000480923.1_5'UTR	p.G75E	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	3	251	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	75			GLUE N-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.224G>A	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	26.9	4.785385	0.90282	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.78637	2.42	0.80722	D	1	P	0.42620	0.785	P	0.48524	0.58	T	0.66555	-0.5894	9	0.07325	T	0.83	-0.423	18.4924	0.90852	0.0:1.0:0.0:0.0	.	75	Q86VN1	VPS36_HUMAN	E	75	.	ENSP00000367299:G75E	G	-	2	0	VPS36	51911246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.100000	0.76989	2.664000	0.90586	0.655000	0.94253	GGA		0.403	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			10	23	0	0	0	1	0	10	23				
WDR55	54853	broad.mit.edu	37	5	140049100	140049100	+	Missense_Mutation	SNP	G	G	A	rs367668945		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140049100G>A	ENST00000358337.5	+	7	1250	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	338					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.R338H(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTCGGCGCAAAAAAAAG	0.592																																						ENST00000358337.5																			1	Substitution - Missense(1)	p.R338H(1)	prostate(1)	NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(1012-1014)cGc>cAc		WD repeat domain 55		G	HIS/ARG	0,4406		0,0,2203	43.0	45.0	45.0		1013	5.3	1.0	5		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR55	NM_017706.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	338/384	140049100	1,13005	2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140049100G>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1013G>A	5.37:g.140049100G>A	ENSP00000351100:p.Arg338His					WDR55_ENST00000520764.1_3'UTR	p.R338H	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1250	+			338					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.1013G>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923002	0.92319	0.0	1.16E-4	ENSG00000120314	ENST00000358337	T	0.30714	1.52	5.28	5.28	0.74379	.	0.184033	0.35903	N	0.002909	T	0.36468	0.0968	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.54140	0.743	T	0.02885	-1.1098	10	0.30854	T	0.27	-11.5367	16.4095	0.83703	0.0:0.0:1.0:0.0	.	338	Q9H6Y2	WDR55_HUMAN	H	338	ENSP00000351100:R338H	ENSP00000351100:R338H	R	+	2	0	WDR55	140029284	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	7.329000	0.79170	2.473000	0.83533	0.467000	0.42956	CGC		0.592	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		5	13	0	0	0	1	0	5	13				
ATP13A5	344905	broad.mit.edu	37	3	193081988	193081988	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193081988G>A	ENST00000342358.4	-	2	262	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	49						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAACACCAGCAGAAGGCCC	0.537																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(145-147)Ctg>Ttg		ATPase type 13A5							169.0	167.0	168.0					3																	193081988		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193081988G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.145C>T	3.37:g.193081988G>A							p.L49L	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	262	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		49					Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.145C>T	CCDS33914.1																																																																																				0.537	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		64	124	0	0	0	1	0	64	124				
SZT2	23334	broad.mit.edu	37	1	43869405	43869405	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43869405T>C	ENST00000562955.1	+	3	287	c.287T>C	c.(286-288)tTt>tCt	p.F96S	SZT2_ENST00000310739.4_Missense_Mutation_p.F96S|SZT2_ENST00000372450.4_Missense_Mutation_p.F94S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	96					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGTATCGGTTTGTCATTGAG	0.572																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(286-288)tTt>tCt		seizure threshold 2 homolog (mouse)							165.0	141.0	149.0					1																	43869405		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43869405T>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.287T>C	1.37:g.43869405T>C	ENSP00000457168:p.Phe96Ser					SZT2_ENST00000310739.4_Missense_Mutation_p.F96S|SZT2_ENST00000372450.4_Missense_Mutation_p.F94S	p.F96S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			3	287	+			96					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.287T>C	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	28.3	4.911361	0.92178	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	T;T	0.18174	2.23;2.23	5.82	5.82	0.92795	.	.	.	.	.	T	0.34600	0.0903	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.991;0.994	T	0.04693	-1.0933	9	0.87932	D	0	.	16.1957	0.82024	0.0:0.0:0.0:1.0	.	96;94	Q5T011-4;Q5T011-7	.;.	S	94;96;96	ENSP00000361528:F94S;ENSP00000312234:F96S	ENSP00000312234:F96S	F	+	2	0	AL139289.1	43641992	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.612000	0.82975	2.221000	0.72209	0.533000	0.62120	TTT		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		6	102	0	0	0	1	0	6	102				
KIF21A	55605	broad.mit.edu	37	12	39763653	39763653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39763653C>A	ENST00000361418.5	-	3	343	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	KIF21A_ENST00000395670.3_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E110*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E110*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E110*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	110	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATACCCAGTTCTTCCTCAACA	0.338																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(328-330)Gaa>Taa		kinesin family member 21A							96.0	92.0	93.0					12																	39763653		2202	4300	6502	SO:0001587	stop_gained	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763653C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.328G>T	12.37:g.39763653C>A	ENSP00000354878:p.Glu110*					KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E110*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E110*	p.E110*			Q7Z4S6	KI21A_HUMAN			3	747	-		Lung NSC(34;0.179)|all_lung(34;0.213)	110			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	c.328G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190416	0.94923	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.	.	.	5.32	5.32	0.75619	.	0.000000	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.3879	0.94565	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000344501:E110X	E	-	1	0	KIF21A	38049920	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.028000	0.76470	2.656000	0.90262	0.650000	0.86243	GAA		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		5	48	1	0	0.00198382	1	0.00210581	5	48				
RB1	5925	broad.mit.edu	37	13	49039423	49039423	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49039423A>G	ENST00000267163.4	+	23	2546	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	803	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		N -> K (in RB). {ECO:0000269|PubMed:8605116}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCTGGAGGGAACATCTATATT	0.423		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2407-2409)aAc>aGc		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						109.0	110.0	110.0					13																	49039423		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039423A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2408A>G	13.37:g.49039423A>G	ENSP00000267163:p.Asn803Ser	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.N803S	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2546	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	803		N -> K (in RB).	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2408A>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671749	0.67928	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.84223	-1.82	5.87	5.87	0.94306	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	L	0.55990	1.75	0.58432	D	0.999997	D	0.67145	0.996	D	0.75484	0.986	D	0.89080	0.3475	10	0.35671	T	0.21	-15.718	16.2567	0.82522	1.0:0.0:0.0:0.0	.	803	P06400	RB_HUMAN	S	782;803	ENSP00000267163:N803S	ENSP00000267163:N803S	N	+	2	0	RB1	47937424	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.711000	0.91396	2.242000	0.73789	0.482000	0.46254	AAC		0.423	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			10	96	0	0	0	1	0	10	96				
TTC7B	145567	broad.mit.edu	37	14	91155895	91155895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91155895G>A	ENST00000328459.6	-	7	1060	c.939C>T	c.(937-939)taC>taT	p.Y313Y	TTC7B_ENST00000357056.2_Silent_p.Y313Y	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	313										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTCTCCTGAGTAGACACGGG	0.483																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(937-939)taC>taT		tetratricopeptide repeat domain 7B							119.0	98.0	105.0					14																	91155895		2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91155895G>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.939C>T	14.37:g.91155895G>A						TTC7B_ENST00000328459.6_Silent_p.Y313Y	p.Y313Y			Q86TV6	TTC7B_HUMAN			7	1060	-		Melanoma(154;0.222)	313					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.939C>T	CCDS32140.1																																																																																				0.483	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			7	12	0	0	0	1	0	7	12				
VRK2	7444	broad.mit.edu	37	2	58386604	58386604	+	Missense_Mutation	SNP	G	G	T	rs201610023		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:58386604G>T	ENST00000435505.2	+	16	2048	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000412104.2_3'UTR|VRK2_ENST00000340157.4_Missense_Mutation_p.D435Y|FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.D412Y|VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000233741.4_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	435	Interaction with MAP3K7.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GCCTCATCAAGATTTTACCAG	0.368																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(1303-1305)Gat>Tat		vaccinia related kinase 2							65.0	67.0	66.0					2																	58386604		2203	4299	6502	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58386604G>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1303G>T	2.37:g.58386604G>T	ENSP00000408002:p.Asp435Tyr					VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000412104.2_3'UTR|FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.D412Y|VRK2_ENST00000340157.4_Missense_Mutation_p.D435Y|FANCL_ENST00000233741.4_3'UTR	p.D435Y			Q86Y07	VRK2_HUMAN			16	2048	+			435					B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.1303G>T	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185112	0.57909	.	.	ENSG00000028116	ENST00000435505;ENST00000340157;ENST00000440705	T;T;T	0.07444	3.19;3.19;3.19	6.02	4.21	0.49690	.	0.374960	0.27109	N	0.020889	T	0.10252	0.0251	M	0.61703	1.905	0.19945	N	0.999947	B	0.21905	0.062	B	0.16722	0.016	T	0.21042	-1.0257	10	0.72032	D	0.01	-4.9525	7.7025	0.28632	0.0818:0.0:0.7563:0.1619	.	435	Q86Y07	VRK2_HUMAN	Y	435;435;412	ENSP00000408002:D435Y;ENSP00000342381:D435Y;ENSP00000398323:D412Y	ENSP00000342381:D435Y	D	+	1	0	VRK2	58240108	0.658000	0.27402	0.002000	0.10522	0.151000	0.21798	2.440000	0.44855	0.863000	0.35553	0.650000	0.86243	GAT		0.368	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		8	55	1	0	0.00448238	1	0.00472561	8	55				
ITPR1	3708	broad.mit.edu	37	3	4859858	4859858	+	Missense_Mutation	SNP	G	G	A	rs568805900		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4859858G>A	ENST00000443694.2	+	57	7915	c.7915G>A	c.(7915-7917)Gtc>Atc	p.V2639I	ITPR1_ENST00000456211.2_Missense_Mutation_p.V2591I|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2606I|ITPR1_ENST00000544951.1_Missense_Mutation_p.V617I|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2639I|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2639I|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2606I|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2654					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GTGCTTCATCGTCCTGGTGAA	0.468																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7915-7917)Gtc>Atc		inositol 1,4,5-trisphosphate receptor, type 1							98.0	96.0	97.0					3																	4859858		2006	4180	6186	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4859858G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7915G>A	3.37:g.4859858G>A	ENSP00000401671:p.Val2639Ile					ITPR1_ENST00000456211.2_Missense_Mutation_p.V2591I|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2606I|AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2606I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2639I|ITPR1_ENST00000544951.1_Missense_Mutation_p.V617I|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2639I	p.V2639I	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	59	8265	+			2654					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7915G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.702192	0.88924	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.58925	1.835	0.80722	D	1	P;P;B	0.51057	0.941;0.93;0.388	P;B;B	0.45681	0.49;0.183;0.217	T	0.47100	-0.9143	10	0.38643	T	0.18	.	18.3362	0.90288	0.0:0.0:1.0:0.0	.	617;2654;2606	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2654;2639;2639;2606;1100;2606;2591;617;2639	ENSP00000306253:V2639I;ENSP00000346595:V2639I;ENSP00000405934:V2606I;ENSP00000349597:V2606I;ENSP00000397885:V2591I;ENSP00000440564:V617I;ENSP00000401671:V2639I	ENSP00000306253:V2639I	V	+	1	0	ITPR1	4834858	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.716000	0.98752	2.311000	0.77944	0.461000	0.40582	GTC		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		11	13	0	0	0	1	0	11	13				
PCDHA11	56138	broad.mit.edu	37	5	140249367	140249367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249367C>T	ENST00000398640.2	+	1	679	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	227	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCGTTCGGCTGTTAGT	0.413																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(679-681)Cgg>Tgg									28.0	27.0	28.0					5																	140249367		1844	4111	5955	SO:0001583	missense	0							g.chr5:140249367C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.679C>T	5.37:g.140249367C>T	ENSP00000381636:p.Arg227Trp					PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.R227W	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	679	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.679C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	2.616	-0.289768	0.05568	.	.	ENSG00000249158	ENST00000398640	T	0.53206	0.63	5.71	4.84	0.62591	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54532	0.1864	L	0.45051	1.395	0.09310	N	1	P;P	0.47409	0.872;0.895	B;P	0.51453	0.427;0.67	T	0.52102	-0.8620	9	0.87932	D	0	.	16.4057	0.83669	0.0:0.7526:0.2474:0.0	.	227;227	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	W	227	ENSP00000381636:R227W	ENSP00000381636:R227W	R	+	1	2	PCDHA11	140229551	0.000000	0.05858	0.186000	0.23195	0.015000	0.08874	-0.893000	0.04127	1.412000	0.46977	0.655000	0.94253	CGG		0.413	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		8	8	0	0	0	1	0	8	8				
CDCA3	83461	broad.mit.edu	37	12	6958590	6958590	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6958590G>T	ENST00000538862.2	-	5	1449	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	CDCA3_ENST00000229265.6_Missense_Mutation_p.S158Y|CDCA3_ENST00000422785.3_Intron|USP5_ENST00000389231.5_5'Flank|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.S183Y|CDCA3_ENST00000540683.1_Intron			Q99618	CDCA3_HUMAN	cell division cycle associated 3	183					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATTGCGCATAGAACCTGGGGT	0.507																																						ENST00000538862.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(547-549)tCt>tAt		cell division cycle associated 3							118.0	120.0	119.0					12																	6958590		2203	4300	6503	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6958590G>T	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.548C>A	12.37:g.6958590G>T	ENSP00000442068:p.Ser183Tyr					CDCA3_ENST00000229265.6_Missense_Mutation_p.S158Y|CDCA3_ENST00000535406.1_Missense_Mutation_p.S183Y|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000540683.1_Intron	p.S183Y			Q99618	CDCA3_HUMAN			5	1449	-			183					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.548C>A	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038937	0.35989	.	.	ENSG00000111665	ENST00000229265;ENST00000538862;ENST00000535406	.	.	.	5.08	5.08	0.68730	.	0.483859	0.22341	N	0.061329	T	0.67202	0.2868	M	0.65975	2.015	0.80722	D	1	D	0.58620	0.983	P	0.60415	0.874	T	0.68965	-0.5270	9	0.66056	D	0.02	-27.103	7.4612	0.27296	0.0873:0.1691:0.7436:0.0	.	183	Q99618	CDCA3_HUMAN	Y	158;183;183	.	ENSP00000229265:S158Y	S	-	2	0	CDCA3	6828851	1.000000	0.71417	0.988000	0.46212	0.061000	0.15899	2.184000	0.42575	2.800000	0.96347	0.655000	0.94253	TCT		0.507	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		15	35	1	0	1.05317e-09	1	1.28483e-09	15	35				
AMPD3	272	broad.mit.edu	37	11	10521710	10521710	+	Silent	SNP	C	C	T	rs376688327		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10521710C>T	ENST00000396554.3	+	11	2003	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Silent_p.D386D	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	545					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAAACCCGGACGTCTGGACCA	0.567																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1156-1158)gaC>gaT		adenosine monophosphate deaminase 3		C	,,,,	0,4402		0,0,2201	283.0	207.0	233.0		1662,1635,1656,1635,1158	0.5	0.0	11		233	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	,,,,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,,,,	554/777,545/768,552/775,545/768,386/609	10521710	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10521710C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1662C>T	11.37:g.10521710C>T						AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.D554D	p.D386D	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	10	1630	+			545					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.1158C>T	CCDS7802.1																																																																																				0.567	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		8	60	0	0	0	1	0	8	60				
MYZAP	100820829	broad.mit.edu	37	15	57924668	57924668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57924668C>T	ENST00000267853.5	+	7	809	c.715C>T	c.(715-717)Cga>Tga	p.R239*	MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R239*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R239*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R239*|GCOM1_ENST00000574161.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.R170*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R239*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.R208*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.R208*			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	239					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											TGAGGTGATGCGAGAGATGAC	0.512																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(715-717)Cga>Tga									230.0	201.0	211.0					15																	57924668		2192	4292	6484	SO:0001587	stop_gained	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57924668C>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.715C>T	15.37:g.57924668C>T	ENSP00000267853:p.Arg239*					GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R239*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R239*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.R170*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.R208*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R239*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.R208*	p.R239*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			7	834	+			239					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Nonsense_Mutation	SNP	ENST00000267853.5	37	c.715C>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966676	0.92855	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	.	.	.	5.36	-6.44	0.01920	.	0.109197	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9822	21.0252	0.99944	0.2187:0.7813:0.0:0.0	.	.	.	.	X	239;208;208;170;239;239;239	.	ENSP00000267853:R239X	R	+	1	2	GCOM1	55711960	0.975000	0.34042	0.869000	0.34112	0.991000	0.79684	0.133000	0.15912	-1.035000	0.03291	-0.271000	0.10264	CGA		0.512	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		29	47	0	0	0	1	0	29	47				
NUF2	83540	broad.mit.edu	37	1	163310177	163310177	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163310177C>A	ENST00000271452.3	+	9	909	c.630C>A	c.(628-630)tcC>tcA	p.S210S	NUF2_ENST00000367900.3_Silent_p.S210S|NUF2_ENST00000524800.1_Silent_p.S210S	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	210	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGGGAAATTCCCAAAAGAAGT	0.323																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(628-630)tcC>tcA		NUF2, NDC80 kinetochore complex component							124.0	133.0	130.0					1																	163310177		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163310177C>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.630C>A	1.37:g.163310177C>A						NUF2_ENST00000524800.1_Silent_p.S210S|NUF2_ENST00000367900.3_Silent_p.S210S	p.S210S	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			9	909	+	all_hematologic(923;0.101)		210			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.630C>A	CCDS1245.1																																																																																				0.323	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		8	99	1	0	0.0477658	1	0.0488009	8	99				
PRR5	55615	broad.mit.edu	37	22	45110540	45110540	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45110540C>T	ENST00000336985.6	+	2	481	c.204C>T	c.(202-204)aaC>aaT	p.N68N	PRR5-ARHGAP8_ENST00000361473.5_Silent_p.N68N|ARHGAP8_ENST00000517296.3_Silent_p.N68N|ARHGAP8_ENST00000389773.5_Silent_p.N59N|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.N68N|PRR5_ENST00000006251.7_Silent_p.N59N|PRR5_ENST00000403581.1_Silent_p.N91N	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	68	Interaction with RICTOR.				cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TCAGCCTCAACGAGGGCGTCC	0.662																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(271-273)aaC>aaT		proline rich 5 (renal)							73.0	69.0	70.0					22																	45110540		2203	4300	6503	SO:0001819	synonymous_variant	55615							g.chr22:45110540C>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.204C>T	22.37:g.45110540C>T						PRR5-ARHGAP8_ENST00000361473.5_Silent_p.N68N|ARHGAP8_ENST00000389773.5_Silent_p.N59N|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000336985.6_Silent_p.N68N|ARHGAP8_ENST00000517296.3_Silent_p.N68N|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.N68N	p.N91N	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	4	882	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	c.273C>T	CCDS14058.1																																																																																				0.662	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		22	43	0	0	0	1	0	22	43				
RIPK4	54101	broad.mit.edu	37	21	43161661	43161661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161661G>A	ENST00000352483.2	-	9	1900	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	RIPK4_ENST00000544709.1_Silent_p.S501S|RIPK4_ENST00000542057.1_Silent_p.S501S|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.S564S			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	612					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCTGCAGGCTCACGTCCA	0.672																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1834-1836)agC>agT		receptor-interacting serine-threonine kinase 4							42.0	39.0	40.0					21																	43161661		2203	4299	6502	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161661G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1836C>T	21.37:g.43161661G>A						RIPK4_ENST00000542057.1_Silent_p.S501S|RIPK4_ENST00000332512.3_Silent_p.S564S|RIPK4_ENST00000544709.1_Silent_p.S501S	p.S612S			Q96T11	Q96T11_HUMAN			9	1900	-			564					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1836C>T																																																																																					0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		25	50	0	0	0	1	0	25	50				
ADAMTS6	11174	broad.mit.edu	37	5	64748588	64748588	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64748588C>A	ENST00000536360.1	-	5	1602	c.789G>T	c.(787-789)gtG>gtT	p.V263V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGGTAGCCCACCATCATTT	0.383																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(787-789)gtG>gtT		ADAM metallopeptidase with thrombospondin type 1 motif, 6							181.0	161.0	168.0					5																	64748588		2203	4300	6503	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64748588C>A	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.789G>T	5.37:g.64748588C>A							p.V263V			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	5	1602	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	263			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.789G>T																																																																																					0.383	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		31	55	1	0	3.80469e-20	1	4.98859e-20	31	55				
ATRX	546	broad.mit.edu	37	X	76776353	76776353	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776353C>T	ENST00000373344.5	-	34	7327	c.7113G>A	c.(7111-7113)gcG>gcA	p.A2371A	ATRX_ENST00000395603.3_Silent_p.A2333A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2371					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAATGCTAACGCCTGTACTT	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(7111-7113)gcG>gcA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						139.0	117.0	125.0					X																	76776353		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76776353C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7113G>A	X.37:g.76776353C>T						ATRX_ENST00000395603.3_Silent_p.A2333A|ATRX_ENST00000480283.1_5'UTR	p.A2371A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			34	7327	-			2371					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.7113G>A	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		38	56	0	0	0	1	0	38	56				
ATP11C	286410	broad.mit.edu	37	X	138864820	138864820	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138864820C>A	ENST00000327569.3	-	18	1945	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	ATP11C_ENST00000370557.1_Missense_Mutation_p.R613I|ATP11C_ENST00000361648.2_Missense_Mutation_p.R616I|ATP11C_ENST00000370543.1_Missense_Mutation_p.R616I|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.R616I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	616					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATGAGCTGTCTGTTAATTCT	0.368																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1837-1839)aGa>aTa		ATPase, class VI, type 11C							99.0	86.0	90.0					X																	138864820		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138864820C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1847G>T	X.37:g.138864820C>A	ENSP00000332756:p.Arg616Ile					ATP11C_ENST00000361648.2_Missense_Mutation_p.R616I|ATP11C_ENST00000327569.3_Missense_Mutation_p.R616I|ATP11C_ENST00000359686.2_Missense_Mutation_p.R616I|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.R616I	p.R613I			Q8NB49	AT11C_HUMAN			18	2865	-	Acute lymphoblastic leukemia(192;0.000127)		616					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1838G>T	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.25|13.25	2.182104|2.182104	0.38511|0.38511	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|D;D;D;D;D	.|0.81659	.|-1.52;-1.52;-1.52;-1.52;-1.52	5.68|5.68	2.51|2.51	0.30379|0.30379	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.662598	.|0.15983	.|N	.|0.235208	T|T	0.69886|0.69886	0.3161|0.3161	L|L	0.41906|0.41906	1.305|1.305	0.31454|0.31454	N|N	0.670338|0.670338	.|B;B	.|0.27013	.|0.042;0.166	.|B;B	.|0.32583	.|0.056;0.148	T|T	0.67296|0.67296	-0.5706|-0.5706	5|10	.|0.56958	.|D	.|0.05	.|.	2.118|2.118	0.03719|0.03719	0.1767:0.4782:0.1689:0.1762|0.1767:0.4782:0.1689:0.1762	.|.	.|616;616	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	Y|I	168|613;616;616;616;616	.|ENSP00000359588:R613I;ENSP00000355165:R616I;ENSP00000332756:R616I;ENSP00000359574:R616I;ENSP00000352715:R616I	.|ENSP00000332756:R616I	D|R	-|-	1|2	0|0	ATP11C|ATP11C	138692486|138692486	0.001000|0.001000	0.12720|0.12720	0.958000|0.958000	0.39756|0.39756	0.944000|0.944000	0.59088|0.59088	-0.233000|-0.233000	0.09041|0.09041	0.546000|0.546000	0.28920|0.28920	0.594000|0.594000	0.82650|0.82650	GAC|AGA		0.368	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		34	57	1	0	4.4194e-11	1	5.49217e-11	34	57				
KCNK18	338567	broad.mit.edu	37	10	118960677	118960677	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118960677A>G	ENST00000334549.1	+	2	231	c.231A>G	c.(229-231)gaA>gaG	p.E77E		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	77					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAGTGGTGGAAGACAGAAAAC	0.517																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(229-231)gaA>gaG		potassium channel, subfamily K, member 18							172.0	170.0	171.0					10																	118960677		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118960677A>G	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.231A>G	10.37:g.118960677A>G							p.E77E	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	231	+		Colorectal(252;0.19)	77					Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.231A>G	CCDS7598.1																																																																																				0.517	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		64	99	0	0	0	1	0	64	99				
C1orf168	199920	broad.mit.edu	37	1	57233502	57233502	+	Splice_Site	SNP	G	G	A	rs553448862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57233502G>A	ENST00000343433.6	-	5	1143	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	355										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCAGACTTACGATCAGCAATT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		16755	0.0		0.0	False		,,,				2504	0.001					ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.e5+1		chromosome 1 open reading frame 168							135.0	122.0	126.0					1																	57233502		2203	4300	6503	SO:0001630	splice_region_variant	199920							g.chr1:57233502G>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1063+1C>T	1.37:g.57233502G>A						C1orf168_ENST00000484327.1_5'UTR	p.P355_splice	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			5	1143	-			355					Q63HM3|Q6ZUY6	Splice_Site	SNP	ENST00000343433.6	37	c.1063_splice	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	G	4.002	-0.002277	0.07819	.	.	ENSG00000187889	ENST00000343433	T	0.24538	1.85	5.26	0.271	0.15640	.	0.741786	0.11958	N	0.513023	T	0.08268	0.0206	N	0.01874	-0.695	0.27616	N	0.94849	B	0.06786	0.001	B	0.01281	0.0	T	0.39881	-0.9592	9	.	.	.	0.4144	7.3184	0.26513	0.4179:0.4922:0.0899:0.0	.	355	Q5VWT5	CA168_HUMAN	S	355	ENSP00000345972:P355S	.	P	-	1	0	C1orf168	57006090	0.965000	0.33210	0.994000	0.49952	0.955000	0.61496	0.192000	0.17096	-0.110000	0.12022	-1.095000	0.02154	CCA		0.363	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	Missense_Mutation	24	59	0	0	0	1	0	24	59				
UNC79	57578	broad.mit.edu	37	14	94155141	94155141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94155141G>A	ENST00000393151.2	+	45	7157	c.7157G>A	c.(7156-7158)cGc>cAc	p.R2386H	UNC79_ENST00000555664.1_Missense_Mutation_p.R2347H|UNC79_ENST00000553484.1_Missense_Mutation_p.R2408H|UNC79_ENST00000256339.4_Missense_Mutation_p.R2209H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2386					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGTGATCCGCTATCTGCCT	0.527																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7222-7224)cGc>cAc		unc-79 homolog (C. elegans)							116.0	102.0	106.0					14																	94155141		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94155141G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7157G>A	14.37:g.94155141G>A	ENSP00000376858:p.Arg2386His					UNC79_ENST00000393151.2_Missense_Mutation_p.R2386H|UNC79_ENST00000555664.1_Missense_Mutation_p.R2347H|UNC79_ENST00000256339.4_Missense_Mutation_p.R2209H	p.R2408H			Q9P2D8	UNC79_HUMAN			46	7377	+			2386					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7223G>A		.	.	.	.	.	.	.	.	.	.	G	26.7	4.766188	0.90020	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25250	1.81;1.84;1.81;1.81	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.53606	-0.8415	10	0.87932	D	0	-8.4455	14.8206	0.70070	0.0693:0.0:0.9307:0.0	.	2408	C9JQL1	.	H	2209;2347;2408;2386;2408	ENSP00000256339:R2209H;ENSP00000450868:R2347H;ENSP00000451360:R2408H;ENSP00000376858:R2386H	ENSP00000256339:R2209H	R	+	2	0	KIAA1409	93224894	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	9.788000	0.99064	1.521000	0.48983	0.561000	0.74099	CGC		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		31	35	0	0	0	1	0	31	35				
SYNRG	11276	broad.mit.edu	37	17	35900533	35900533	+	Silent	SNP	G	G	A	rs370977943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900533G>A	ENST00000339208.6	-	16	3455	c.3315C>T	c.(3313-3315)ccC>ccT	p.P1105P	SYNRG_ENST00000591288.1_Silent_p.P899P|SYNRG_ENST00000394378.2_Silent_p.P1027P|SYNRG_ENST00000345615.4_Silent_p.P1027P|SYNRG_ENST00000346661.4_Silent_p.P1105P|SYNRG_ENST00000585472.1_Silent_p.P1026P|SYNRG_ENST00000502449.2_Silent_p.P982P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1105					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGGCAGGGCGGGCTTCTCAT	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16420	0.0		0.0	False		,,,				2504	0.0					ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3313-3315)ccC>ccT		synergin, gamma		G	,,,,,,	2,4404	4.2+/-10.8	0,2,2201	103.0	101.0	101.0		3081,3078,2946,2697,3315,3081,3081	-11.0	0.0	17		101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	,,,,,,	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	,,,,,,	1027/1237,1026/1236,982/1180,899/1109,1105/1315,1027/1225,1027/1260	35900533	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35900533G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3315C>T	17.37:g.35900533G>A						SYNRG_ENST00000345615.4_Silent_p.P1027P|SYNRG_ENST00000585472.1_Silent_p.P1026P|SYNRG_ENST00000502449.2_Silent_p.P982P|SYNRG_ENST00000394378.2_Silent_p.P1027P|SYNRG_ENST00000591288.1_Silent_p.P899P|SYNRG_ENST00000346661.4_Silent_p.P1105P	p.P1105P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			16	3455	-			1105					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3315C>T	CCDS11321.1																																																																																				0.522	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		33	65	0	0	0	1	0	33	65				
HNRNPU	3192	broad.mit.edu	37	1	245018277	245018277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245018277C>A	ENST00000283179.9	-	13	2585	c.2422G>T	c.(2422-2424)Ggt>Tgt	p.G808C	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.G789C|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	808	Gly-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACTTACACCCTGCTGCCAC	0.368																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2365-2367)Ggt>Tgt		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							121.0	114.0	116.0					1																	245018277		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245018277C>A	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2422G>T	1.37:g.245018277C>A	ENSP00000283179:p.Gly808Cys					HNRNPU_ENST00000283179.9_Missense_Mutation_p.G808C|HNRNPU-AS1_ENST00000475997.1_RNA	p.G789C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		13	2599	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		808			Gly-rich.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.2365G>T	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789311	0.90367	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.54279	0.58;0.65	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.68070	-0.5506	10	0.72032	D	0.01	-12.331	20.6593	0.99626	0.0:1.0:0.0:0.0	.	789;808;532	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	C	789;808;733	ENSP00000393151:G789C;ENSP00000283179:G808C	ENSP00000283179:G808C	G	-	1	0	HNRNPU	243084900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.634000	0.67833	2.885000	0.99019	0.655000	0.94253	GGT		0.368	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		6	65	1	0	0.0215528	1	0.0221649	6	65				
SYNE1	23345	broad.mit.edu	37	6	152771912	152771912	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771912G>A	ENST00000367255.5	-	27	3844	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	SYNE1_ENST00000367253.4_Silent_p.I1081I|SYNE1_ENST00000367248.3_Silent_p.I1071I|SYNE1_ENST00000265368.4_Silent_p.I1081I|SYNE1_ENST00000341594.5_Silent_p.I1147I|SYNE1_ENST00000448038.1_Silent_p.I1088I|SYNE1_ENST00000423061.1_Silent_p.I1088I|SYNE1_ENST00000413186.2_Silent_p.I1081I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1081					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGTTCCTCGATGAGCTGTA	0.463										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3241-3243)atC>atT		spectrin repeat containing, nuclear envelope 1							146.0	143.0	144.0					6																	152771912		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152771912G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3243C>T	6.37:g.152771912G>A		HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Silent_p.I1081I|SYNE1_ENST00000341594.5_Silent_p.I1147I|SYNE1_ENST00000265368.4_Silent_p.I1081I|SYNE1_ENST00000413186.2_Silent_p.I1081I|SYNE1_ENST00000448038.1_Silent_p.I1088I|SYNE1_ENST00000367248.3_Silent_p.I1071I|SYNE1_ENST00000423061.1_Silent_p.I1088I	p.I1081I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	27	3844	-		Ovarian(120;0.0955)	1081					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.3243C>T	CCDS5236.2																																																																																				0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	199	0	0	0	1	0	21	199				
BRD3	8019	broad.mit.edu	37	9	136901379	136901379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901379G>A	ENST00000303407.7	-	10	1896	c.1711C>T	c.(1711-1713)Ccc>Tcc	p.P571S	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	571	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TAGCTCATGGGCAGGCCCTCC	0.607			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1711-1713)Ccc>Tcc		bromodomain containing 3							75.0	69.0	71.0					9																	136901379		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136901379G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1711C>T	9.37:g.136901379G>A	ENSP00000305918:p.Pro571Ser					BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	p.P571S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	10	1896	-			571					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1711C>T	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904699	0.92035	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.35048	1.33	5.16	5.16	0.70880	.	0.073482	0.53938	D	0.000043	T	0.62441	0.2428	M	0.84082	2.675	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68780	-0.5318	10	0.72032	D	0.01	-18.2603	17.64	0.88133	0.0:0.0:1.0:0.0	.	571	Q15059	BRD3_HUMAN	S	571;250	ENSP00000305918:P571S	ENSP00000305918:P571S	P	-	1	0	BRD3	135891200	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.573000	0.98181	2.403000	0.81681	0.491000	0.48974	CCC		0.607	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		6	46	0	0	0	1	0	6	46				
ZNF592	9640	broad.mit.edu	37	15	85341659	85341659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85341659G>A	ENST00000560079.2	+	7	2978	c.2690G>A	c.(2689-2691)tGc>tAc	p.C897Y	ZNF592_ENST00000299927.3_Missense_Mutation_p.C897Y	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	897					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCTGAGTGCCCACTCTTG	0.567																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(2689-2691)tGc>tAc		zinc finger protein 592							70.0	60.0	63.0					15																	85341659		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85341659G>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2690G>A	15.37:g.85341659G>A	ENSP00000452877:p.Cys897Tyr					ZNF592_ENST00000560079.2_Missense_Mutation_p.C897Y	p.C897Y			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	2712	+			897					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.2690G>A	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563249	0.86335	.	.	ENSG00000166716	ENST00000299927	T	0.58652	0.32	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82236	-0.0557	10	0.87932	D	0	-15.2105	17.2346	0.86995	0.0:0.0:1.0:0.0	.	897	Q92610	ZN592_HUMAN	Y	897	ENSP00000299927:C897Y	ENSP00000299927:C897Y	C	+	2	0	ZNF592	83142663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.711000	0.98735	2.671000	0.90904	0.650000	0.86243	TGC		0.567	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		14	22	0	0	0	1	0	14	22				
LOC81691	81691	broad.mit.edu	37	16	20838466	20838466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20838466C>A	ENST00000261377.6	+	9	1117	c.908C>A	c.(907-909)cCt>cAt	p.P303H	AC004381.6_ENST00000564274.1_Missense_Mutation_p.P303H|AC004381.6_ENST00000348433.6_Missense_Mutation_p.P303H|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CTGCTTCCTCCTGATGCTGTG	0.408																																						ENST00000261377.6																			0											c.(907-909)cCt>cAt									133.0	124.0	127.0					16																	20838466		2201	4300	6501	SO:0001583	missense	0							g.chr16:20838466C>A																												ENST00000261377.6:c.908C>A	16.37:g.20838466C>A	ENSP00000261377:p.Pro303His					ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.P303H|AC004381.6_ENST00000564274.1_Missense_Mutation_p.P303H	p.P303H	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					9	1117	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.908C>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135773	0.56828	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.16743	2.32;2.32	5.22	4.2	0.49525	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.383946	0.29964	N	0.010747	T	0.19525	0.0469	L	0.45285	1.41	0.42356	D	0.992393	P;P	0.46912	0.774;0.886	B;P	0.45474	0.286;0.482	T	0.01524	-1.1333	10	0.41790	T	0.15	-14.9109	14.1747	0.65534	0.0:0.849:0.1509:0.0	.	303;303	Q96IC2-2;Q96IC2	.;REXON_HUMAN	H	303	ENSP00000261378:P303H;ENSP00000261377:P303H	ENSP00000261377:P303H	P	+	2	0	AC004381.6	20745967	0.043000	0.20138	0.987000	0.45799	0.965000	0.64279	0.356000	0.20181	2.432000	0.82394	0.655000	0.94253	CCT		0.408	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			10	131	1	0	0.000442599	1	0.00048047	10	131				
SOX6	55553	broad.mit.edu	37	11	16007927	16007927	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16007927G>T	ENST00000352083.6	-	15	2083	c.2006C>A	c.(2005-2007)cCt>cAt	p.P669H	SOX6_ENST00000396356.3_Missense_Mutation_p.P649H|SOX6_ENST00000528252.1_Missense_Mutation_p.P642H|SOX6_ENST00000527619.1_Missense_Mutation_p.P645H|SOX6_ENST00000316399.6_Missense_Mutation_p.P649H|SOX6_ENST00000528429.1_Missense_Mutation_p.P669H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	669					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATAATAAGGTTGCTTCTC	0.443																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(2005-2007)cCt>cAt		SRY (sex determining region Y)-box 6							149.0	147.0	147.0					11																	16007927		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007927G>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2006C>A	11.37:g.16007927G>T	ENSP00000339876:p.Pro669His					SOX6_ENST00000396356.3_Missense_Mutation_p.P649H|SOX6_ENST00000527619.1_Missense_Mutation_p.P645H|SOX6_ENST00000528429.1_Missense_Mutation_p.P669H|SOX6_ENST00000528252.1_Missense_Mutation_p.P642H|SOX6_ENST00000316399.6_Missense_Mutation_p.P649H	p.P669H			P35712	SOX6_HUMAN			15	2083	-			669					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2006C>A		.	.	.	.	.	.	.	.	.	.	g	19.26	3.792695	0.70452	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	5.38	4.47	0.54385	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.99305	1.0902	10	0.87932	D	0	.	14.3115	0.66419	0.0713:0.0:0.9287:0.0	.	649;669;645	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	649;669;649;642;645;669	ENSP00000324948:P649H;ENSP00000339876:P669H;ENSP00000379644:P649H;ENSP00000432134:P642H;ENSP00000434455:P645H;ENSP00000433233:P669H	ENSP00000324948:P649H	P	-	2	0	SOX6	15964503	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.034000	0.88864	1.294000	0.44707	-0.119000	0.15052	CCT		0.443	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		43	57	1	0	3.70713e-34	1	4.98236e-34	43	57				
PYGL	5836	broad.mit.edu	37	14	51375006	51375006	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51375006C>A	ENST00000216392.7	-	19	2694	c.2362G>T	c.(2362-2364)Gtg>Ttg	p.V788L	PYGL_ENST00000544180.2_Missense_Mutation_p.V754L|PYGL_ENST00000532462.1_Missense_Mutation_p.V788L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	788					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AGCTGACTCACTTTATCTTGA	0.303																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2362-2364)Gtg>Ttg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						81.0	82.0	82.0					14																	51375006		2203	4299	6502	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51375006C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2362G>T	14.37:g.51375006C>A	ENSP00000216392:p.Val788Leu					PYGL_ENST00000532462.1_Missense_Mutation_p.V788L|PYGL_ENST00000544180.2_Missense_Mutation_p.V754L	p.V788L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			19	2694	-	all_epithelial(31;0.00825)|Breast(41;0.148)		788					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2362G>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137671	0.77775	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94793	-3.52;-3.52;-3.52	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	M	0.67569	2.06	0.80722	D	1	B;B;B	0.33318	0.158;0.19;0.408	B;B;B	0.42851	0.22;0.4;0.246	D	0.94580	0.7778	10	0.72032	D	0.01	-33.453	18.9047	0.92455	0.0:1.0:0.0:0.0	.	754;754;788	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	L	788;754;788	ENSP00000431657:V788L;ENSP00000443787:V754L;ENSP00000216392:V788L	ENSP00000216392:V788L	V	-	1	0	PYGL	50444756	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.774000	0.85478	2.814000	0.96858	0.655000	0.94253	GTG		0.303	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		4	67	1	0	0.00116845	1	0.00124821	4	67				
VARS	7407	broad.mit.edu	37	6	31750377	31750377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750377G>T	ENST00000375663.3	-	16	2361	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	641					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCGCCACCAGCACCGCTTTC	0.642																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1921-1923)Ctg>Atg		valyl-tRNA synthetase	L-Valine(DB00161)						73.0	57.0	63.0					6																	31750377		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31750377G>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1921C>A	6.37:g.31750377G>T	ENSP00000364815:p.Leu641Met					VARS_ENST00000444930.2_3'UTR	p.L641M	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			16	2361	-			641					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1921C>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908373	0.33721	.	.	ENSG00000204394	ENST00000375663	T	0.37584	1.19	4.98	1.69	0.24217	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.64402	D	0.000001	T	0.37625	0.1010	M	0.62209	1.925	0.80722	D	1	D	0.56035	0.974	D	0.64877	0.93	T	0.28235	-1.0050	10	0.66056	D	0.02	-17.454	7.7334	0.28799	0.3869:0.0:0.6131:0.0	.	641	P26640	SYVC_HUMAN	M	641	ENSP00000364815:L641M	ENSP00000364815:L641M	L	-	1	2	VARS	31858356	1.000000	0.71417	0.998000	0.56505	0.501000	0.33797	1.822000	0.39052	0.504000	0.28082	0.467000	0.42956	CTG		0.642	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		3	24	1	0	0.004672	1	0.0049138	3	24				
CIB1	10519	broad.mit.edu	37	15	90770825	90770825	+	IGR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90770825G>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Missense_Mutation_p.K570N|SEMA4B_ENST00000332496.6_Missense_Mutation_p.K575N|SEMA4B_ENST00000411539.2_Missense_Mutation_p.K575N	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCAGCGCCAAGGACCTTTGCA	0.597																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(1723-1725)aaG>aaT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							67.0	72.0	70.0					15																	90770825		2029	4191	6220	SO:0001628	intergenic_variant	10509							g.chr15:90770825G>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90770825G>T						SEMA4B_ENST00000332496.6_Missense_Mutation_p.K575N|SEMA4B_ENST00000379122.3_Missense_Mutation_p.K570N	p.K575N	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		13	1985	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.1725G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745198	0.69418	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.22336	1.96;1.96;1.96	5.44	4.53	0.55603	.	1.381490	0.04031	N	0.301457	T	0.15869	0.0382	N	0.20766	0.605	0.09310	N	1	B;B;B	0.20988	0.05;0.034;0.034	B;B;B	0.19666	0.015;0.026;0.026	T	0.29518	-1.0009	10	0.17369	T	0.5	.	8.3704	0.32412	0.0783:0.0:0.7684:0.1533	.	570;575;570	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	N	575;570;575	ENSP00000332204:K575N;ENSP00000368417:K570N;ENSP00000394720:K575N	ENSP00000332204:K575N	K	+	3	2	SEMA4B	88571829	0.338000	0.24775	0.019000	0.16419	0.325000	0.28411	3.034000	0.49751	1.307000	0.44944	0.561000	0.74099	AAG		0.597	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			10	22	1	0	4.36969e-10	1	5.35656e-10	10	22				
OR6C74	254783	broad.mit.edu	37	12	55641851	55641851	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641851C>A	ENST00000343870.4	+	1	870	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATGTGAAACCCTCAGCAAAAG	0.403																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(778-780)ccC>ccA		olfactory receptor, family 6, subfamily C, member 74							72.0	76.0	75.0					12																	55641851		2203	4300	6503	SO:0001819	synonymous_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641851C>A		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.780C>A	12.37:g.55641851C>A							p.P260P	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	870	+			260						Silent	SNP	ENST00000343870.4	37	c.780C>A	CCDS31816.1																																																																																				0.403	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			6	81	1	0	0.0215528	1	0.0221649	6	81				
SRSF4	6429	broad.mit.edu	37	1	29475269	29475269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29475269G>A	ENST00000373795.4	-	6	1372	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	380	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R380*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ttgctgcctcgctttctgctc	0.592																																						ENST00000373795.4																			1	Substitution - Nonsense(1)	p.R380*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1138-1140)Cga>Tga		serine/arginine-rich splicing factor 4							55.0	54.0	54.0					1																	29475269		2203	4300	6503	SO:0001587	stop_gained	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475269G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1138C>T	1.37:g.29475269G>A	ENSP00000362900:p.Arg380*					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.R380*	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1372	-			380			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Nonsense_Mutation	SNP	ENST00000373795.4	37	c.1138C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612847	0.87258	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	.	.	.	5.72	5.72	0.89469	.	0.442863	0.22949	N	0.053682	.	.	.	.	.	.	0.26382	N	0.976728	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4435	0.61127	0.0:0.0:0.8433:0.1567	.	.	.	.	X	380	.	ENSP00000362900:R380X	R	-	1	2	SRSF4	29347856	0.617000	0.27043	0.011000	0.14972	0.946000	0.59487	2.315000	0.43752	2.691000	0.91804	0.655000	0.94253	CGA		0.592	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		21	49	0	0	0	1	0	21	49				
TJP3	27134	broad.mit.edu	37	19	3735606	3735606	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3735606A>T	ENST00000541714.2	+	9	1491	c.1029A>T	c.(1027-1029)agA>agT	p.R343S	TJP3_ENST00000587686.1_Missense_Mutation_p.R362S|TJP3_ENST00000539908.2_Missense_Mutation_p.R307S|TJP3_ENST00000589378.1_Missense_Mutation_p.R352S|TJP3_ENST00000262968.9_Missense_Mutation_p.R376S|TJP3_ENST00000382008.3_Missense_Mutation_p.R357S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	343					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGATTCCAGAACCATCTCGG	0.557																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1027-1029)agA>agT		tight junction protein 3							98.0	106.0	103.0					19																	3735606		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3735606A>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1029A>T	19.37:g.3735606A>T	ENSP00000439278:p.Arg343Ser					TJP3_ENST00000587686.1_Missense_Mutation_p.R362S|TJP3_ENST00000589378.1_Missense_Mutation_p.R352S|TJP3_ENST00000262968.9_Missense_Mutation_p.R376S|TJP3_ENST00000539908.2_Missense_Mutation_p.R307S|TJP3_ENST00000382008.3_Missense_Mutation_p.R357S	p.R343S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1491	+			357					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1029A>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.430224	0.01117	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08193	3.12;3.31;3.16;3.28	3.35	-1.22	0.09494	.	0.815202	0.11091	N	0.600720	T	0.05364	0.0142	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.32467	0.372;0.182;0.113;0.372	B;B;B;B	0.38194	0.083;0.267;0.033;0.083	T	0.46233	-0.9206	10	0.10377	T	0.69	.	7.5585	0.27837	0.4399:0.0:0.5601:0.0	.	362;376;357;343	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	S	343;307;357;376	ENSP00000439278:R343S;ENSP00000439991:R307S;ENSP00000371438:R357S;ENSP00000262968:R376S	ENSP00000262968:R376S	R	+	3	2	TJP3	3686606	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.250000	0.08830	-0.335000	0.08451	0.418000	0.28097	AGA		0.557	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			6	115	0	0	0	1	0	6	115				
CNOT1	23019	broad.mit.edu	37	16	58559183	58559183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559183C>T	ENST00000317147.5	-	46	7016	c.6684G>A	c.(6682-6684)gcG>gcA	p.A2228A	CNOT1_ENST00000245138.4_Silent_p.A1079A|CNOT1_ENST00000569240.1_Silent_p.A2223A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2228					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.A2228A(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGATGTGCGCAATGGCCT	0.493																																						ENST00000317147.5																			1	Substitution - coding silent(1)	p.A2228A(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6682-6684)gcG>gcA		CCR4-NOT transcription complex, subunit 1							237.0	172.0	194.0					16																	58559183		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559183C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6684G>A	16.37:g.58559183C>T						CNOT1_ENST00000569240.1_Silent_p.A2223A|CNOT1_ENST00000245138.4_Silent_p.A1079A	p.A2228A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7016	-			2228					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.6684G>A	CCDS10799.1																																																																																				0.493	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		18	46	0	0	0	1	0	18	46				
ANKDD1A	348094	broad.mit.edu	37	15	65223741	65223741	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65223741G>T	ENST00000380230.3	+	8	755	c.726G>T	c.(724-726)caG>caT	p.Q242H	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.Q242H|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.Q242H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	242					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACTGTGTGCAGCTCCTCCTCA	0.622																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(724-726)caG>caT		ankyrin repeat and death domain containing 1A							94.0	63.0	74.0					15																	65223741		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65223741G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.726G>T	15.37:g.65223741G>T	ENSP00000369579:p.Gln242His					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.Q242H|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.Q242H	p.Q242H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			8	755	+			242					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.726G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743903	0.30865	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319597;ENST00000496660;ENST00000483400;ENST00000395723	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.04	2.16	0.27623	Ankyrin repeat-containing domain (4);	0.882785	0.09492	N	0.794748	T	0.67040	0.2851	L	0.41710	1.295	0.09310	N	1	D;P;P;P;P	0.61697	0.99;0.915;0.779;0.846;0.895	D;P;P;P;P	0.64506	0.926;0.667;0.667;0.465;0.537	T	0.52902	-0.8513	10	0.72032	D	0.01	-1.5238	6.0607	0.19837	0.2349:0.0:0.7651:0.0	.	107;242;148;242;242	E7ET26;Q495B1;A4QMR4;Q495B1-2;Q495B1-1	.;AKD1A_HUMAN;.;.;.	H	242;242;242;107;151;103;151	ENSP00000369579:Q242H;ENSP00000350329:Q242H;ENSP00000379070:Q242H;ENSP00000420999:Q151H;ENSP00000423548:Q103H;ENSP00000379073:Q151H	ENSP00000326203:Q107H	Q	+	3	2	ANKDD1A	63010794	0.153000	0.22777	0.010000	0.14722	0.425000	0.31504	0.593000	0.23999	0.389000	0.25086	0.655000	0.94253	CAG		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		13	15	1	0	1.61879e-10	1	1.99744e-10	13	15				
KMT2A	4297	broad.mit.edu	37	11	118373689	118373689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118373689C>T	ENST00000389506.5	+	27	7073	c.7073C>T	c.(7072-7074)tCg>tTg	p.S2358L	KMT2A_ENST00000534358.1_Missense_Mutation_p.S2361L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2320L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2358					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCTTCAGTGTCGTTTTCTTCT	0.463																																						ENST00000534358.1																			0											c.(7081-7083)tCg>tTg		lysine (K)-specific methyltransferase 2A							102.0	111.0	108.0					11																	118373689		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118373689C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7073C>T	11.37:g.118373689C>T	ENSP00000374157:p.Ser2358Leu					KMT2A_ENST00000389506.5_Missense_Mutation_p.S2358L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2320L	p.S2361L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7105	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7082C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	2.168	-0.390541	0.04932	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81739	-1.53;-1.53;-1.5	5.19	4.27	0.50696	.	0.551586	0.19996	N	0.101446	T	0.63426	0.2510	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42616	-0.9441	10	0.07482	T	0.82	.	10.3597	0.43987	0.0:0.849:0.0:0.151	.	2361;2358	E9PQG7;Q03164	.;MLL1_HUMAN	L	2361;2358;2320;1268	ENSP00000436786:S2361L;ENSP00000374157:S2358L;ENSP00000346516:S2320L	ENSP00000346516:S2320L	S	+	2	0	MLL	117878899	0.001000	0.12720	0.003000	0.11579	0.225000	0.24961	1.302000	0.33459	1.394000	0.46624	0.563000	0.77884	TCG		0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	60	0	0	0	1	0	4	60				
CNOT1	23019	broad.mit.edu	37	16	58621775	58621775	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58621775A>T	ENST00000317147.5	-	4	550	c.218T>A	c.(217-219)tTt>tAt	p.F73Y	CNOT1_ENST00000569240.1_Missense_Mutation_p.F73Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.F73Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	73					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGAATCAGAAACTGAGTCTT	0.348																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(217-219)tTt>tAt		CCR4-NOT transcription complex, subunit 1							70.0	70.0	70.0					16																	58621775		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621775A>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.218T>A	16.37:g.58621775A>T	ENSP00000320949:p.Phe73Tyr					CNOT1_ENST00000569240.1_Missense_Mutation_p.F73Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.F73Y	p.F73Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	4	550	-			73					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.218T>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507305	0.85282	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.23147	1.92;1.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.29908	0.895	0.80722	D	1	P;P;P	0.52577	0.954;0.851;0.908	D;B;B	0.66351	0.943;0.221;0.394	T	0.06516	-1.0822	9	.	.	.	.	16.0023	0.80306	1.0:0.0:0.0:0.0	.	73;73;73	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Y	73	ENSP00000320949:F73Y;ENSP00000413113:F73Y	.	F	-	2	0	CNOT1	57179276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.450000	0.80656	2.177000	0.69029	0.533000	0.62120	TTT		0.348	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		30	35	0	0	0	1	0	30	35				
RYR3	6263	broad.mit.edu	37	15	34113774	34113774	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34113774C>A	ENST00000389232.4	+	80	11036	c.10966C>A	c.(10966-10968)Ctg>Atg	p.L3656M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3651M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3656					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATCGCCATTCTGAACGGAGG	0.542																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10966-10968)Ctg>Atg		ryanodine receptor 3							92.0	96.0	94.0					15																	34113774		2103	4236	6339	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34113774C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10966C>A	15.37:g.34113774C>A	ENSP00000373884:p.Leu3656Met					RYR3_ENST00000415757.3_Missense_Mutation_p.L3651M	p.L3656M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	80	11036	+		all_lung(180;7.18e-09)	3656					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10966C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190317	0.58017	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.94046	-3.34	5.3	4.38	0.52667	.	0.000000	0.64402	D	0.000009	D	0.96445	0.8840	M	0.80422	2.495	0.44816	D	0.997828	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.96952	0.9695	10	0.87932	D	0	.	14.1538	0.65405	0.0:0.9282:0.0:0.0718	.	3651;3656	Q15413-2;Q15413	.;RYR3_HUMAN	M	3656;3655;3651	ENSP00000373884:L3656M	ENSP00000354735:L3651M	L	+	1	2	RYR3	31901066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.199000	0.51043	1.474000	0.48178	0.655000	0.94253	CTG		0.542	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			24	31	1	0	4.87955e-14	1	6.21198e-14	24	31				
KIAA0556	23247	broad.mit.edu	37	16	27789064	27789064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27789064G>A	ENST00000261588.4	+	26	4704	c.4685G>A	c.(4684-4686)cGc>cAc	p.R1562H		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1562						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGGACATCCGCCACCAGGAG	0.657																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4684-4686)cGc>cAc		KIAA0556							106.0	86.0	93.0					16																	27789064		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27789064G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4685G>A	16.37:g.27789064G>A	ENSP00000261588:p.Arg1562His						p.R1562H	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			26	4704	+			1562					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.4685G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324062	0.24080	.	.	ENSG00000047578	ENST00000261588	T	0.09723	2.95	4.75	2.72	0.32119	.	0.580012	0.18573	N	0.137282	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	P	0.46457	0.878	B	0.40901	0.343	T	0.37314	-0.9711	10	0.16420	T	0.52	-41.5822	8.374	0.32432	0.0848:0.1552:0.76:0.0	.	1562	O60303	K0556_HUMAN	H	1562	ENSP00000261588:R1562H	ENSP00000261588:R1562H	R	+	2	0	KIAA0556	27696565	0.326000	0.24669	0.001000	0.08648	0.048000	0.14542	3.447000	0.52936	0.500000	0.27991	0.561000	0.74099	CGC		0.657	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		24	38	0	0	0	1	0	24	38				
OR2T11	127077	broad.mit.edu	37	1	248789891	248789891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789891G>A	ENST00000330803.2	-	1	600	c.539C>T	c.(538-540)gCa>gTa	p.A180V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCAGAACTGCTGGGATCTC	0.493																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(538-540)gCa>gTa		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							65.0	68.0	67.0					1																	248789891		2050	4235	6285	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789891G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.539C>T	1.37:g.248789891G>A	ENSP00000328934:p.Ala180Val						p.A180V	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	600	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		180					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.539C>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	12.30	1.896949	0.33535	.	.	ENSG00000183130	ENST00000330803	T	0.00152	8.66	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000540	T	0.00241	0.0007	M	0.70903	2.155	0.09310	N	1	P	0.39737	0.685	B	0.42245	0.381	T	0.51568	-0.8689	10	0.52906	T	0.07	.	15.8809	0.79205	0.0:0.0:1.0:0.0	.	180	Q8NH01	O2T11_HUMAN	V	180	ENSP00000328934:A180V	ENSP00000328934:A180V	A	-	2	0	OR2T11	246856514	0.997000	0.39634	0.402000	0.26371	0.014000	0.08584	4.064000	0.57506	2.242000	0.73789	0.655000	0.94253	GCA		0.493	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		11	67	0	0	0	1	0	11	67				
TEX10	54881	broad.mit.edu	37	9	103092422	103092422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103092422T>C	ENST00000374902.4	-	6	1456	c.1280A>G	c.(1279-1281)aAc>aGc	p.N427S	TEX10_ENST00000535814.1_Missense_Mutation_p.N430S|TEX10_ENST00000537512.1_Missense_Mutation_p.N362S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	427						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGATCTATGTTATTGGAGAG	0.373																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1279-1281)aAc>aGc		testis expressed 10							129.0	124.0	125.0					9																	103092422		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103092422T>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1280A>G	9.37:g.103092422T>C	ENSP00000364037:p.Asn427Ser					TEX10_ENST00000537512.1_Missense_Mutation_p.N362S|TEX10_ENST00000535814.1_Missense_Mutation_p.N430S	p.N427S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	6	1456	-		Acute lymphoblastic leukemia(62;0.0527)	427					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1280A>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	7.266	0.606113	0.14002	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	T;T;T	0.63580	-0.05;-0.05;-0.05	5.18	5.18	0.71444	Armadillo-type fold (1);	0.154659	0.56097	D	0.000024	T	0.63988	0.2558	L	0.51422	1.61	0.33666	D	0.610311	P;P;D;P	0.58620	0.664;0.817;0.983;0.664	B;B;P;B	0.55391	0.115;0.164;0.775;0.115	T	0.67945	-0.5539	10	0.16420	T	0.52	-6.5677	9.8116	0.40826	0.0:0.0768:0.0:0.9232	.	362;430;295;427	B7Z9D5;B4DYV2;E7ERG2;Q9NXF1	.;.;.;TEX10_HUMAN	S	430;427;295;72;362	ENSP00000444555:N430S;ENSP00000364037:N427S;ENSP00000438120:N362S	ENSP00000364037:N427S	N	-	2	0	TEX10	102132243	0.704000	0.27836	1.000000	0.80357	0.969000	0.65631	0.738000	0.26158	2.084000	0.62774	0.533000	0.62120	AAC		0.373	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		69	85	0	0	0	1	0	69	85				
KRT16P2	400578	broad.mit.edu	37	17	16735787	16735787	+	RNA	SNP	G	G	A	rs570483059	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16735787G>A	ENST00000579062.1	-	0	225									keratin 16 pseudogene 2																		caccaccgacgccagcaccaa	0.647													N|||	2	0.000399361	0.0008	0.0	5008	,	,		17387	0.0		0.001	False		,,,				2504	0.0					ENST00000579062.1																			0																																																			0							g.chr17:16735787G>A			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16735787G>A														0	225	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.647	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		5	15	0	0	0	1	0	5	15				
TTLL5	23093	broad.mit.edu	37	14	76147930	76147930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76147930G>A	ENST00000298832.9	+	4	429	c.224G>A	c.(223-225)cGc>cAc	p.R75H	TTLL5_ENST00000557636.1_Missense_Mutation_p.R75H|TTLL5_ENST00000556977.1_Missense_Mutation_p.R75H|TTLL5_ENST00000286650.5_Missense_Mutation_p.R75H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	75	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACGGACAGTCGCCTAGTACGC	0.358																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(223-225)cGc>cAc		tubulin tyrosine ligase-like family, member 5							161.0	147.0	152.0					14																	76147930		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76147930G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.224G>A	14.37:g.76147930G>A	ENSP00000298832:p.Arg75His					TTLL5_ENST00000286650.5_Missense_Mutation_p.R75H|TTLL5_ENST00000556977.1_Missense_Mutation_p.R75H|TTLL5_ENST00000557636.1_Missense_Mutation_p.R75H	p.R75H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	4	429	+			75			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.224G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511182	0.96386	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.07216	3.83;3.21;3.9	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.71656	0.974;0.924;0.967	T	0.00088	-1.2091	10	0.42905	T	0.14	.	18.3166	0.90223	0.0:0.0:1.0:0.0	.	75;75;75	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	H	75	ENSP00000450713:R75H;ENSP00000286650:R75H;ENSP00000298832:R75H	ENSP00000286650:R75H	R	+	2	0	TTLL5	75217683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.206000	0.95056	2.629000	0.89072	0.655000	0.94253	CGC		0.358	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		41	68	0	0	0	1	0	41	68				
BRWD1	54014	broad.mit.edu	37	21	40568686	40568686	+	Silent	SNP	G	G	T	rs143446666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40568686G>T	ENST00000333229.2	-	41	6636	c.6309C>A	c.(6307-6309)acC>acA	p.T2103T	BRWD1_ENST00000380800.3_Silent_p.T2103T|BRWD1_ENST00000342449.3_Silent_p.T2103T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2103					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTTTCCATAGGTCCTGAGTC	0.423																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6307-6309)acC>acA		bromodomain and WD repeat domain containing 1							173.0	165.0	168.0					21																	40568686		2203	4299	6502	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40568686G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6309C>A	21.37:g.40568686G>T						BRWD1_ENST00000333229.2_Silent_p.T2103T|BRWD1_ENST00000380800.3_Silent_p.T2103T	p.T2103T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			41	6387	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2103					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.6309C>A	CCDS13662.1																																																																																				0.423	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		14	205	1	0	1.05317e-09	1	1.28483e-09	14	205				
RRP12	23223	broad.mit.edu	37	10	99144989	99144989	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99144989T>C	ENST00000370992.4	-	10	1253	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	RRP12_ENST00000536831.1_Missense_Mutation_p.E99G|RRP12_ENST00000315563.6_Missense_Mutation_p.E281G|RRP12_ENST00000414986.1_Missense_Mutation_p.E320G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	381						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAAATCATTCTCACTGGGAAC	0.527																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1141-1143)gAg>gGg		ribosomal RNA processing 12 homolog (S. cerevisiae)							248.0	196.0	213.0					10																	99144989		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99144989T>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1142A>G	10.37:g.99144989T>C	ENSP00000360031:p.Glu381Gly					RRP12_ENST00000414986.1_Missense_Mutation_p.E320G|RRP12_ENST00000315563.6_Missense_Mutation_p.E281G|RRP12_ENST00000536831.1_Missense_Mutation_p.E99G	p.E381G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	10	1253	-		Colorectal(252;0.162)	381					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.1142A>G	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764499	0.49574	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.88	4.88	0.63580	Armadillo-like helical (1);Armadillo-type fold (1);	0.100854	0.64402	D	0.000002	T	0.56093	0.1962	L	0.60455	1.87	0.49389	D	0.999785	P;B;P;P	0.46621	0.881;0.054;0.716;0.594	B;B;B;B	0.40940	0.344;0.061;0.311;0.231	T	0.55866	-0.8073	10	0.26408	T	0.33	-34.1409	11.5856	0.50916	0.0:0.0:0.1596:0.8403	.	320;281;99;381	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	G	381;281;320;99	ENSP00000360031:E381G;ENSP00000324315:E281G;ENSP00000414863:E320G;ENSP00000446184:E99G	ENSP00000324315:E281G	E	-	2	0	RRP12	99134979	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.852000	0.55934	2.050000	0.60909	0.459000	0.35465	GAG		0.527	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		7	87	0	0	0	1	0	7	87				
ITGA6	3655	broad.mit.edu	37	2	173332215	173332215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173332215C>T	ENST00000264106.6	+	3	517	c.314C>T	c.(313-315)cCc>cTc	p.P105L	ITGA6_ENST00000409080.1_Missense_Mutation_p.P105L|AC078883.3_ENST00000417539.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.P105L|ITGA6_ENST00000343713.4_Missense_Mutation_p.P105L|ITGA6_ENST00000264107.7_Missense_Mutation_p.P105L|ITGA6_ENST00000409532.1_5'UTR|AC078883.3_ENST00000458314.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	105					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAGCTGACCCCACGTCAGAA	0.498																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(313-315)cCc>cTc		integrin, alpha 6							93.0	76.0	81.0					2																	173332215		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173332215C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.314C>T	2.37:g.173332215C>T	ENSP00000264106:p.Pro105Leu					ITGA6_ENST00000264106.6_Missense_Mutation_p.P105L|ITGA6_ENST00000264107.7_Missense_Mutation_p.P105L|ITGA6_ENST00000409532.1_5'UTR|ITGA6_ENST00000409080.1_Missense_Mutation_p.P105L|ITGA6_ENST00000343713.4_Missense_Mutation_p.P105L	p.P105L			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		3	517	+			105					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.314C>T		.	.	.	.	.	.	.	.	.	.	C	4.240	0.043565	0.08196	.	.	ENSG00000091409	ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.57	4.7	0.59300	.	0.347375	0.31438	N	0.007649	T	0.49201	0.1543	N	0.17082	0.46	0.49483	D	0.999796	B;B	0.12013	0.005;0.004	B;B	0.17979	0.02;0.013	T	0.37056	-0.9722	10	0.08381	T	0.77	.	8.9613	0.35849	0.0:0.7779:0.0:0.2221	.	105;105	G5E9H1;P23229-2	.;.	L	105	ENSP00000264107:P105L;ENSP00000264106:P105L;ENSP00000364369:P105L;ENSP00000341078:P105L;ENSP00000386896:P105L;ENSP00000406694:P105L;ENSP00000394169:P105L	ENSP00000264106:P105L	P	+	2	0	ITGA6	173040461	0.800000	0.28916	0.876000	0.34364	0.022000	0.10575	1.954000	0.40362	1.351000	0.45789	-0.145000	0.13849	CCC		0.498	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				19	40	0	0	0	1	0	19	40				
ARAP1	116985	broad.mit.edu	37	11	72408651	72408651	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408651C>T	ENST00000393609.3	-	20	2983	c.2781G>A	c.(2779-2781)gaG>gaA	p.E927E	ARAP1_ENST00000393605.3_Silent_p.E687E|ARAP1_ENST00000359373.5_Silent_p.E927E|ARAP1_ENST00000426523.1_Silent_p.E682E|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000334211.8_Silent_p.E682E|ARAP1_ENST00000429686.1_Silent_p.E621E|ARAP1_ENST00000455638.2_Silent_p.E927E	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	927					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACCTCCTTCGCTCCACCAGCA	0.632																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2779-2781)gaG>gaA		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							105.0	93.0	97.0					11																	72408651		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408651C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2781G>A	11.37:g.72408651C>T						ARAP1_ENST00000426523.1_Silent_p.E682E|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Silent_p.E927E|ARAP1_ENST00000334211.8_Silent_p.E682E|ARAP1_ENST00000393609.3_Silent_p.E927E|ARAP1_ENST00000429686.1_Silent_p.E621E|ARAP1_ENST00000393605.3_Silent_p.E687E	p.E927E			Q96P48	ARAP1_HUMAN			20	3632	-			927					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.2781G>A	CCDS41687.1																																																																																				0.632	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		34	54	0	0	0	1	0	34	54				
CHSY3	337876	broad.mit.edu	37	5	129241270	129241270	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129241270T>C	ENST00000305031.4	+	1	1106	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	250					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCACGACCACTACCTGGACAA	0.592																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(748-750)Tac>Cac		chondroitin sulfate synthase 3							115.0	117.0	117.0					5																	129241270		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129241270T>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.748T>C	5.37:g.129241270T>C	ENSP00000302629:p.Tyr250His					CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	p.Y250H	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	1106	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	250					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.748T>C	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297579	0.60086	.	.	ENSG00000198108	ENST00000305031	D	0.84873	-1.91	3.38	3.38	0.38709	.	0.000000	0.32273	U	0.006332	T	0.76891	0.4051	L	0.35593	1.075	0.54753	D	0.999981	P	0.42010	0.768	B	0.39379	0.298	T	0.75709	-0.3223	9	.	.	.	.	12.8485	0.57844	0.0:0.0:0.0:1.0	.	250	Q70JA7	CHSS3_HUMAN	H	250	ENSP00000302629:Y250H	.	Y	+	1	0	CHSY3	129269169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.013000	0.70776	1.773000	0.52216	0.260000	0.18958	TAC		0.592	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		8	106	0	0	0	1	0	8	106				
CSTB	1476	broad.mit.edu	37	21	45194539	45194539	+	Splice_Site	SNP	C	C	A	rs386833440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45194539C>A	ENST00000291568.5	-	2	343	c.168G>T	c.(166-168)aaG>aaT	p.K56N		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	56					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		CACACTCTACCTTGATGAAGT	0.587																																					Esophageal Squamous(58;831 1093 17019 29789 35147)	ENST00000291568.5																			0				lung(1)|prostate(1)	2	GRCh37	CS022099	CSTB	S		c.e2+1		cystatin B (stefin B)							106.0	102.0	103.0					21																	45194539		2203	4300	6503	SO:0001630	splice_region_variant	1476					cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	g.chr21:45194539C>A	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.168+1G>T	21.37:g.45194539C>A							p.K56_splice	NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)	2	343	-			56						Splice_Site	SNP	ENST00000291568.5	37	c.168_splice	CCDS13701.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359640	0.61403	.	.	ENSG00000160213	ENST00000291568	T	0.28454	1.61	5.61	5.61	0.85477	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.58081	-0.7699	9	0.87932	D	0	-11.7545	15.141	0.72609	0.0:1.0:0.0:0.0	.	56	P04080	CYTB_HUMAN	N	56	ENSP00000291568:K56N	ENSP00000291568:K56N	K	-	3	2	CSTB	44018967	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	3.894000	0.56250	2.646000	0.89796	0.561000	0.74099	AAG		0.587	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100	Missense_Mutation	26	29	1	0	2.48779e-11	1	3.09936e-11	26	29				
CACNA1S	779	broad.mit.edu	37	1	201052448	201052448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201052448C>T	ENST00000362061.3	-	10	1461	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R412Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	412					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCAATGTCGGCTGAGGGA	0.547																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1234-1236)cGa>cAa		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						164.0	138.0	146.0					1																	201052448		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201052448C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1235G>A	1.37:g.201052448C>T	ENSP00000355192:p.Arg412Gln					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R412Q	p.R412Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			10	1461	-			412					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1235G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927857	0.73327	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96300	-3.97;-3.89	4.59	4.59	0.56863	.	3.741590	0.00769	N	0.001187	D	0.98058	0.9360	M	0.81112	2.525	0.80722	D	1	D	0.65815	0.995	P	0.54759	0.76	D	0.91322	0.5083	10	0.48119	T	0.1	.	17.7262	0.88366	0.0:1.0:0.0:0.0	.	412	Q13698	CAC1S_HUMAN	Q	412	ENSP00000355192:R412Q;ENSP00000356307:R412Q	ENSP00000355192:R412Q	R	-	2	0	CACNA1S	199319071	1.000000	0.71417	0.905000	0.35620	0.205000	0.24178	5.895000	0.69814	2.232000	0.73038	0.643000	0.83706	CGA		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		44	53	0	0	0	1	0	44	53				
NEB	4703	broad.mit.edu	37	2	152422294	152422294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152422294C>T	ENST00000172853.10	-	87	13241	c.13094G>A	c.(13093-13095)gGc>gAc	p.G4365D	NEB_ENST00000409198.1_Missense_Mutation_p.G4365D|NEB_ENST00000604864.1_Missense_Mutation_p.G6066D|NEB_ENST00000603639.1_Missense_Mutation_p.G6066D|NEB_ENST00000427231.2_Missense_Mutation_p.G6066D|NEB_ENST00000397345.3_Missense_Mutation_p.G6066D			P20929	NEBU_HUMAN	nebulin	4365					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGATCCAGCCAATGCCTCG	0.478																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18196-18198)gGc>gAc		nebulin							46.0	48.0	48.0					2																	152422294		1909	4133	6042	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152422294C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13094G>A	2.37:g.152422294C>T	ENSP00000172853:p.Gly4365Asp					NEB_ENST00000409198.1_Missense_Mutation_p.G4365D|NEB_ENST00000397345.3_Missense_Mutation_p.G6066D|NEB_ENST00000603639.1_Missense_Mutation_p.G6066D|NEB_ENST00000604864.1_Missense_Mutation_p.G6066D|NEB_ENST00000172853.10_Missense_Mutation_p.G4365D	p.G6066D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	115	18399	-			6060					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18197G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.663101	0.96745	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.25085	2.02;1.82;1.82;2.95;2.02	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.43925	-0.9361	10	0.66056	D	0.02	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	4365;796	P20929;Q14215	NEBU_HUMAN;.	D	4365;6066;6066;414;796;4365	ENSP00000386259:G4365D;ENSP00000380505:G6066D;ENSP00000416578:G6066D;ENSP00000410961:G796D;ENSP00000172853:G4365D	ENSP00000172853:G4365D	G	-	2	0	NEB	152130540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGC		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	9	0	0	0	1	0	4	9				
GJA8	2703	broad.mit.edu	37	1	147380253	147380253	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380253G>A	ENST00000369235.1	+	1	171	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GJA8_ENST00000240986.4_Silent_p.Q57Q			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	57					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCAACACCCAGCAGCCTGGCT	0.597																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(169-171)caG>caA		gap junction protein, alpha 8, 50kDa							137.0	109.0	118.0					1																	147380253		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380253G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.171G>A	1.37:g.147380253G>A						GJA8_ENST00000369235.1_Silent_p.Q57Q	p.Q57Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	224	+	all_hematologic(923;0.0276)		57					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.171G>A	CCDS30834.1																																																																																				0.597	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		30	29	0	0	0	1	0	30	29				
NOMO3	408050	broad.mit.edu	37	16	16359019	16359019	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16359019T>C	ENST00000399336.4	+	15	1961	c.1789T>C	c.(1789-1791)Tct>Cct	p.S597P	NOMO3_ENST00000263012.6_Missense_Mutation_p.S597P|NOMO3_ENST00000538468.1_Missense_Mutation_p.S430P	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	597						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATGTTCCCTGTCTCACGCCAT	0.498																																						ENST00000399336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8						c.(1789-1791)Tct>Cct		NODAL modulator 3							42.0	54.0	50.0					16																	16359019		1994	4290	6284	SO:0001583	missense	408050					integral to membrane	carbohydrate binding|carboxypeptidase activity	g.chr16:16359019T>C	AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.1789T>C	16.37:g.16359019T>C	ENSP00000382274:p.Ser597Pro					NOMO3_ENST00000263012.6_Missense_Mutation_p.S597P|NOMO3_ENST00000538468.1_Missense_Mutation_p.S430P	p.S597P	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	15	1961	+			597						Missense_Mutation	SNP	ENST00000399336.4	37	c.1789T>C	CCDS42123.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.143128	0.77888	.	.	ENSG00000103226	ENST00000263012;ENST00000399336;ENST00000538468	T;T;T	0.09350	3.09;3.12;2.99	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.01966	-1.1238	10	0.23302	T	0.38	-18.3342	13.2939	0.60286	0.0:0.0:0.0:1.0	.	430;597;597	F5H826;P69849;Q5JPE7-2	.;NOMO3_HUMAN;.	P	597;597;430	ENSP00000263012:S597P;ENSP00000382274:S597P;ENSP00000443768:S430P	ENSP00000263012:S597P	S	+	1	0	NOMO3	16266520	1.000000	0.71417	0.929000	0.37066	0.920000	0.55202	8.033000	0.88852	1.561000	0.49584	0.352000	0.21897	TCT		0.498	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409528.13	NM_001004067		19	45	0	0	0	1	0	19	45				
RTN2	6253	broad.mit.edu	37	19	45988979	45988979	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45988979G>T	ENST00000245923.4	-	11	1860	c.1625C>A	c.(1624-1626)gCc>gAc	p.A542D	RTN2_ENST00000344680.4_Missense_Mutation_p.A469D|RTN2_ENST00000590526.1_Missense_Mutation_p.A268D|RTN2_ENST00000430715.2_Missense_Mutation_p.A202D	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	542	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCGGCTTTGGCTTTGGATCC	0.652											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(802-804)gCc>gAc		reticulon 2							56.0	61.0	59.0					19																	45988979		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45988979G>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1625C>A	19.37:g.45988979G>T	ENSP00000245923:p.Ala542Asp		OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	RTN2_ENST00000430715.2_Missense_Mutation_p.A202D|RTN2_ENST00000245923.4_Missense_Mutation_p.A542D|RTN2_ENST00000344680.4_Missense_Mutation_p.A469D	p.A268D			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	11	1929	-		Ovarian(192;0.051)|all_neural(266;0.112)	542					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.803C>A	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188559	0.57909	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.55930	0.49;0.67;0.62	5.17	4.06	0.47325	.	0.061040	0.64402	D	0.000004	T	0.29321	0.0730	N	0.14661	0.345	0.34191	D	0.672059	B;B	0.17038	0.008;0.02	B;B	0.15052	0.007;0.012	T	0.24297	-1.0164	10	0.05436	T	0.98	-16.5901	11.5241	0.50569	0.0:0.0:0.8215:0.1785	.	469;542	O75298-2;O75298	.;RTN2_HUMAN	D	469;542;202	ENSP00000345127:A469D;ENSP00000245923:A542D;ENSP00000398178:A202D	ENSP00000245923:A542D	A	-	2	0	RTN2	50680819	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.865000	0.56033	2.570000	0.86706	0.467000	0.42956	GCC		0.652	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		25	49	1	0	1.17739e-12	1	1.48344e-12	25	49				
ZNF350	59348	broad.mit.edu	37	19	52468952	52468952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52468952G>A	ENST00000243644.4	-	5	981	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	252					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTTCGCTGATGTTCAGTAAGC	0.428																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(754-756)Cat>Tat		zinc finger protein 350							119.0	109.0	113.0					19																	52468952		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468952G>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.754C>T	19.37:g.52468952G>A	ENSP00000243644:p.His252Tyr					HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.H252Y	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	981	-		all_neural(266;0.0505)	252					Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.754C>T	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796154	0.70567	.	.	ENSG00000256683	ENST00000243644	D	0.86769	-2.17	3.41	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38111	N	0.001816	D	0.94653	0.8276	M	0.93763	3.455	0.37333	D	0.910072	D	0.89917	1.0	D	0.83275	0.996	D	0.97158	0.9836	10	0.87932	D	0	.	13.7589	0.62954	0.0:0.0:1.0:0.0	.	252	Q9GZX5	ZN350_HUMAN	Y	252	ENSP00000243644:H252Y	ENSP00000243644:H252Y	H	-	1	0	ZNF350	57160764	0.999000	0.42202	0.245000	0.24217	0.968000	0.65278	4.081000	0.57627	1.743000	0.51761	0.591000	0.81541	CAT		0.428	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		11	93	0	0	0	1	0	11	93				
HTR1D	3352	broad.mit.edu	37	1	23520460	23520460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23520460G>T	ENST00000374619.1	-	1	762	c.253C>A	c.(253-255)Ctc>Atc	p.L85I	HTR1D_ENST00000314113.3_Missense_Mutation_p.L85I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	85					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAAACCAAGAGGTCGGTGGTG	0.532																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(253-255)Ctc>Atc		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						248.0	226.0	233.0					1																	23520460		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520460G>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.253C>A	1.37:g.23520460G>T	ENSP00000363748:p.Leu85Ile					HTR1D_ENST00000314113.3_Missense_Mutation_p.L85I	p.L85I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	762	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	85						Missense_Mutation	SNP	ENST00000374619.1	37	c.253C>A	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630027	0.87660	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.46819	0.86;0.86	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.064334	0.64402	D	0.000005	T	0.67040	0.2851	M	0.72576	2.205	0.80722	D	1	P	0.51791	0.948	P	0.62298	0.9	T	0.67051	-0.5768	10	0.49607	T	0.09	.	18.2987	0.90155	0.0:0.0:1.0:0.0	.	85	P28221	5HT1D_HUMAN	I	85	ENSP00000313661:L85I;ENSP00000363748:L85I	ENSP00000313661:L85I	L	-	1	0	HTR1D	23393047	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.578000	0.87016	0.561000	0.74099	CTC		0.532	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		9	102	1	0	0.000274275	1	0.000298791	9	102				
CCNB3	85417	broad.mit.edu	37	X	50085330	50085330	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50085330A>C	ENST00000376042.1	+	9	3944	c.3646A>C	c.(3646-3648)Aaa>Caa	p.K1216Q	CCNB3_ENST00000376038.1_Missense_Mutation_p.K112Q|CCNB3_ENST00000276014.7_Missense_Mutation_p.K1216Q|CCNB3_ENST00000348603.2_Missense_Mutation_p.K112Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1216					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATTGCAGCAAAATTTGAGGT	0.408																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3646-3648)Aaa>Caa		cyclin B3							138.0	107.0	118.0					X																	50085330		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50085330A>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3646A>C	X.37:g.50085330A>C	ENSP00000365210:p.Lys1216Gln					CCNB3_ENST00000276014.7_Missense_Mutation_p.K1216Q|CCNB3_ENST00000348603.2_Missense_Mutation_p.K112Q|CCNB3_ENST00000376038.1_Missense_Mutation_p.K112Q	p.K1216Q			Q8WWL7	CCNB3_HUMAN			9	3944	+	Ovarian(276;0.236)		1216					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3646A>C	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128277	0.77549	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.11	5.11	0.69529	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.79610	0.4475	H	0.98048	4.135	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86752	0.1961	9	.	.	.	.	13.1255	0.59351	1.0:0.0:0.0:0.0	.	1216;112;1216	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	Q	1216;112;112;1216	ENSP00000365210:K1216Q;ENSP00000365206:K112Q;ENSP00000338682:K112Q;ENSP00000276014:K1216Q	.	K	+	1	0	CCNB3	50102070	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.890000	0.87313	1.809000	0.52856	0.356000	0.21956	AAA		0.408	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			18	31	0	0	0	1	0	18	31				
P2RY2	5029	broad.mit.edu	37	11	72945750	72945750	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72945750C>A	ENST00000311131.2	+	3	1013	c.546C>A	c.(544-546)acC>acA	p.T182T	P2RY2_ENST00000393597.2_Silent_p.T182T|P2RY2_ENST00000393596.2_Silent_p.T182T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	182					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCGCGTAACCTGCCACGACA	0.692																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(544-546)acC>acA		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						35.0	33.0	33.0					11																	72945750		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945750C>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.546C>A	11.37:g.72945750C>A						P2RY2_ENST00000393597.2_Silent_p.T182T|P2RY2_ENST00000393596.2_Silent_p.T182T	p.T182T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1013	+			182					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.546C>A	CCDS8219.1																																																																																				0.692	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		14	15	1	0	1.49906e-05	1	1.69169e-05	14	15				
TEX10	54881	broad.mit.edu	37	9	103109222	103109222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109222C>T	ENST00000374902.4	-	3	823	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TEX10_ENST00000535814.1_Missense_Mutation_p.R219Q|TEX10_ENST00000537512.1_Missense_Mutation_p.R151Q	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	216						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGTGAGTCTCCGATTAGGATT	0.418																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(646-648)cGg>cAg		testis expressed 10							86.0	88.0	87.0					9																	103109222		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109222C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.647G>A	9.37:g.103109222C>T	ENSP00000364037:p.Arg216Gln					TEX10_ENST00000537512.1_Missense_Mutation_p.R151Q|TEX10_ENST00000535814.1_Missense_Mutation_p.R219Q	p.R216Q	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	823	-		Acute lymphoblastic leukemia(62;0.0527)	216					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.647G>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522929	0.64747	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	.	.	.	5.41	5.41	0.78517	Armadillo-type fold (1);	0.051230	0.85682	D	0.000000	T	0.54351	0.1853	L	0.35723	1.085	0.58432	D	0.999997	D;D;P	0.69078	0.97;0.997;0.949	P;P;P	0.56700	0.495;0.804;0.495	T	0.46527	-0.9185	9	0.25106	T	0.35	-12.5139	12.5278	0.56096	0.0:0.924:0.0:0.076	.	151;219;216	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	Q	219;216;151	.	ENSP00000364037:R216Q	R	-	2	0	TEX10	102149043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.963000	0.63694	2.531000	0.85337	0.655000	0.94253	CGG		0.418	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		25	44	0	0	0	1	0	25	44				
EML3	256364	broad.mit.edu	37	11	62374475	62374475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62374475G>A	ENST00000394773.2	-	12	1766	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Missense_Mutation_p.R270W|EML3_ENST00000278845.4_Missense_Mutation_p.R488W|EML3_ENST00000529309.1_Missense_Mutation_p.R487W|EML3_ENST00000494176.2_Missense_Mutation_p.R459W|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	487						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGGGCTCCGCCCCCAGGTG	0.542																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1459-1461)Cgg>Tgg		echinoderm microtubule associated protein like 3							63.0	67.0	66.0					11																	62374475		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62374475G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1459C>T	11.37:g.62374475G>A	ENSP00000378254:p.Arg487Trp					EML3_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Missense_Mutation_p.R488W|EML3_ENST00000529309.1_Missense_Mutation_p.R487W|EML3_ENST00000494176.2_Missense_Mutation_p.R459W|EML3_ENST00000531557.1_Missense_Mutation_p.R270W	p.R487W	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			12	1766	-			487					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1459C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.986634|3.986634	0.74589|0.74589	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.39997	.|1.05;1.05;1.6;1.6;1.6	5.22|5.22	4.25|4.25	0.50352|0.50352	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.058593	.|0.64402	.|D	.|0.000005	T|T	0.57051|0.57051	0.2027|0.2027	L|L	0.57536|0.57536	1.79|1.79	0.42816|0.42816	D|D	0.993972|0.993972	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0	.|D;D;D;D;D	.|0.79108	.|0.992;0.982;0.913;0.952;0.968	T|T	0.59958|0.59958	-0.7356|-0.7356	5|10	.|0.87932	.|D	.|0	-18.086|-18.086	10.2427|10.2427	0.43321|0.43321	0.0:0.0:0.6821:0.3179|0.0:0.0:0.6821:0.3179	.|.	.|487;487;270;488;459	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	V|W	481|487;488;270;459;487	.|ENSP00000378254:R487W;ENSP00000278845:R488W;ENSP00000433417:R270W;ENSP00000435064:R459W;ENSP00000434513:R487W	.|ENSP00000278845:R488W	A|R	-|-	2|1	0|2	EML3|EML3	62131051|62131051	0.950000|0.950000	0.32346|0.32346	0.994000|0.994000	0.49952|0.49952	0.830000|0.830000	0.47004|0.47004	2.166000|2.166000	0.42406|0.42406	2.447000|2.447000	0.82792|0.82792	0.467000|0.467000	0.42956|0.42956	GCG|CGG		0.542	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		22	34	0	0	0	1	0	22	34				
AKAP6	9472	broad.mit.edu	37	14	33292407	33292407	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292407C>A	ENST00000280979.4	+	13	5558	c.5388C>A	c.(5386-5388)gaC>gaA	p.D1796E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1796					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGGGCTAGACTACATAAAGA	0.403																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5386-5388)gaC>gaA		A kinase (PRKA) anchor protein 6							87.0	85.0	86.0					14																	33292407		2202	4300	6502	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292407C>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5388C>A	14.37:g.33292407C>A	ENSP00000280979:p.Asp1796Glu					AKAP6_ENST00000557272.1_Intron	p.D1796E	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5558	+	Breast(36;0.0388)|Prostate(35;0.15)		1796					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5388C>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418986	0.42918	.	.	ENSG00000151320	ENST00000280979	T	0.08984	3.03	5.63	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.00670	-1.1617	10	0.87932	D	0	-16.3845	9.3306	0.38018	0.0:0.6277:0.0:0.3723	.	1796	Q13023	AKAP6_HUMAN	E	1796	ENSP00000280979:D1796E	ENSP00000280979:D1796E	D	+	3	2	AKAP6	32362158	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.471000	0.22100	0.745000	0.32763	0.650000	0.86243	GAC		0.403	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		26	36	1	0	1.17739e-12	1	1.48344e-12	26	36				
AAR2	25980	broad.mit.edu	37	20	34828309	34828309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34828309C>T	ENST00000373932.3	+	2	865	c.519C>T	c.(517-519)cgC>cgT	p.R173R	AAR2_ENST00000320849.4_Silent_p.R173R|AAR2_ENST00000397286.3_Silent_p.R173R	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	173																	CCAAGGACCGCGTGGGGCAGA	0.582																																						ENST00000373932.3																			0											c.(517-519)cgC>cgT		AAR2 splicing factor homolog (S. cerevisiae)							96.0	95.0	95.0					20																	34828309		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34828309C>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.519C>T	20.37:g.34828309C>T						AAR2_ENST00000397286.3_Silent_p.R173R|AAR2_ENST00000320849.4_Silent_p.R173R	p.R173R	NM_015511.3	NP_056326.2					2	865	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.519C>T	CCDS13273.1																																																																																				0.582	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		36	59	0	0	0	1	0	36	59				
SETDB2	83852	broad.mit.edu	37	13	50050630	50050630	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50050630A>G	ENST00000317257.8	+	7	1185	c.360A>G	c.(358-360)gaA>gaG	p.E120E	SETDB2_ENST00000354234.4_Silent_p.E108E|SETDB2_ENST00000258672.5_Silent_p.E108E	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	120					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AAAATAAGGAAATTCTCTCTC	0.284																																						ENST00000354234.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(322-324)gaA>gaG		SET domain, bifurcated 2							51.0	58.0	56.0					13																	50050630		2201	4300	6501	SO:0001819	synonymous_variant	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50050630A>G	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.360A>G	13.37:g.50050630A>G						SETDB2_ENST00000258672.5_Silent_p.E108E|SETDB2_ENST00000317257.8_Silent_p.E120E	p.E108E	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	6	1230	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	120					Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Silent	SNP	ENST00000317257.8	37	c.324A>G	CCDS9417.1																																																																																				0.284	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		3	104	0	0	0	1	0	3	104				
THBS3	7059	broad.mit.edu	37	1	155169847	155169847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155169847C>A	ENST00000368378.3	-	15	1786	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R118M|THBS3_ENST00000541576.1_De_novo_Start_InFrame|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R469M|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	589					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCCTCATCCCTGTCTGTCTG	0.532																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1765-1767)aGg>aTg		thrombospondin 3							134.0	119.0	124.0					1																	155169847		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155169847C>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1766G>T	1.37:g.155169847C>A	ENSP00000357362:p.Arg589Met					RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R118M|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R469M|THBS3_ENST00000428962.2_Missense_Mutation_p.G386W|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541576.1_De_novo_Start_InFrame	p.R589M	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		15	1786	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		589					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1766G>T	CCDS1099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.315714|3.315714	0.60524|0.60524	.|.	.|.	ENSG00000169231|ENSG00000169231	ENST00000428962|ENST00000368378;ENST00000457183;ENST00000541990	T|D;D;D	0.80738|0.98221	-1.41|-4.8;-4.8;-4.8	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98337|0.98337	0.9448|0.9448	M|M	0.72118|0.72118	2.19|2.19	0.27962|0.27962	N|N	0.936737|0.936737	.|D;D;D;D	.|0.71674	.|0.966;0.983;0.983;0.998	.|P;D;D;D	.|0.66196	.|0.889;0.942;0.915;0.942	D|D	0.95563|0.95563	0.8631|0.8631	7|10	0.66056|0.52906	D|T	0.02|0.07	-20.3755|-20.3755	16.4898|16.4898	0.84197|0.84197	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469;589;589;589	.|B4DQ20;Q53FK6;Q2HIZ0;P49746	.|.;.;.;TSP3_HUMAN	W|M	386|589;469;118	ENSP00000404040:G386W|ENSP00000357362:R589M;ENSP00000392207:R469M;ENSP00000437353:R118M	ENSP00000404040:G386W|ENSP00000357362:R589M	G|R	-|-	1|2	0|0	THBS3|THBS3	153436471|153436471	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.091000|3.091000	0.50199|0.50199	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.532	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		11	63	1	0	0.000978159	1	0.00105116	11	63				
MIA3	375056	broad.mit.edu	37	1	222802500	222802500	+	Silent	SNP	C	C	T	rs374278403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222802500C>T	ENST00000344922.5	+	4	1963	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.D646D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	646					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AACTGGAAGACGAGGTTCCCA	0.443																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(1936-1938)gaC>gaT		melanoma inhibitory activity family, member 3		C		0,3680		0,0,1840	95.0	94.0	94.0		1938	-1.2	0.0	1		94	1,8199		0,1,4099	no	coding-synonymous	MIA3	NM_198551.2		0,1,5939	TT,TC,CC		0.0122,0.0,0.0084		646/1908	222802500	1,11879	1840	4100	5940	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802500C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1938C>T	1.37:g.222802500C>T						MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D646D|MIA3_ENST00000470521.1_3'UTR	p.D646D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1963	+			646					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.1938C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	2.219	-0.378806	0.05000	0.0	1.22E-4	ENSG00000154305	ENST00000354906	.	.	.	4.48	-1.17	0.09648	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7356	0.02941	0.3507:0.2355:0.0728:0.3409	.	.	.	.	X	229	.	.	R	+	1	2	MIA3	220869123	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.577000	0.05847	-0.406000	0.07588	-2.185000	0.00314	CGA		0.443	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		71	88	0	0	0	1	0	71	88				
DNAH1	25981	broad.mit.edu	37	3	52434366	52434366	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52434366T>C	ENST00000420323.2	+	78	12963	c.12702T>C	c.(12700-12702)tcT>tcC	p.S4234S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4299					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGACACTCTACCAACTATG	0.557																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12700-12702)tcT>tcC		dynein, axonemal, heavy chain 1							210.0	218.0	215.0					3																	52434366		2110	4254	6364	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52434366T>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12702T>C	3.37:g.52434366T>C							p.S4234S	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	78	12963	+			4299					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.12702T>C	CCDS46842.1																																																																																				0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		64	90	0	0	0	1	0	64	90				
NF1	4763	broad.mit.edu	37	17	29562966	29562966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29562966C>A	ENST00000358273.4	+	29	4284	c.3901C>A	c.(3901-3903)Ctg>Atg	p.L1301M	NF1_ENST00000356175.3_Missense_Mutation_p.L1301M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1301	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAAACTCCTGGATCCTTT	0.378			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(3901-3903)Ctg>Atg		neurofibromin 1							141.0	131.0	134.0					17																	29562966		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562966C>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3901C>A	17.37:g.29562966C>A	ENSP00000351015:p.Leu1301Met	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.L1301M	p.L1301M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	29	4284	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1301			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.3901C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853068	0.71719	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.85013	-1.93;-1.93;-1.93	5.94	1.78	0.24846	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.000000	0.64402	D	0.000001	D	0.91290	0.7254	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.998	D;D;D;D	0.91635	0.999;0.974;0.991;0.987	D	0.89089	0.3481	10	0.49607	T	0.09	.	8.2704	0.31840	0.0:0.5657:0.0:0.4343	.	1301;351;1301;1301	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	M	1301;1301;967	ENSP00000351015:L1301M;ENSP00000348498:L1301M;ENSP00000389907:L967M	ENSP00000348498:L1301M	L	+	1	2	NF1	26587092	0.045000	0.20229	0.999000	0.59377	0.956000	0.61745	0.363000	0.20301	0.406000	0.25560	0.557000	0.71058	CTG		0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	119	1	0	0.014758	1	0.0152625	5	119				
PRTG	283659	broad.mit.edu	37	15	55919209	55919209	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55919209G>A	ENST00000389286.4	-	17	2971	c.2924C>T	c.(2923-2925)gCc>gTc	p.A975V		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AACACACCTGGCTTTACTTCG	0.418																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2923-2925)gCc>gTc		protogenin							114.0	108.0	110.0					15																	55919209		1921	4150	6071	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55919209G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2924C>T	15.37:g.55919209G>A	ENSP00000373937:p.Ala975Val						p.A975V	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	17	2971	-			975						Missense_Mutation	SNP	ENST00000389286.4	37	c.2924C>T	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174434	0.38413	.	.	ENSG00000166450	ENST00000389286	T	0.51574	0.7	5.02	5.02	0.67125	.	0.111909	0.64402	D	0.000010	T	0.44540	0.1298	L	0.51422	1.61	0.80722	D	1	B	0.26318	0.146	B	0.19666	0.026	T	0.37865	-0.9687	10	0.42905	T	0.14	.	17.3169	0.87227	0.0:0.0:1.0:0.0	.	975	Q2VWP7	PRTG_HUMAN	V	975	ENSP00000373937:A975V	ENSP00000373937:A975V	A	-	2	0	PRTG	53706501	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.348000	0.66004	2.344000	0.79699	0.557000	0.71058	GCC		0.418	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		24	33	0	0	0	1	0	24	33				
ZNF280D	54816	broad.mit.edu	37	15	56993223	56993223	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56993223T>A	ENST00000267807.7	-	6	505	c.289A>T	c.(289-291)Aca>Tca	p.T97S	ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559237.1_Missense_Mutation_p.T84S|ZNF280D_ENST00000558320.1_Missense_Mutation_p.T97S|ZNF280D_ENST00000559000.1_Missense_Mutation_p.T84S	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGATTTGATGTTGGATTCGTG	0.338																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(250-252)Aca>Tca		zinc finger protein 280D							125.0	107.0	113.0					15																	56993223		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56993223T>A	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.289A>T	15.37:g.56993223T>A	ENSP00000267807:p.Thr97Ser					ZNF280D_ENST00000558320.1_Missense_Mutation_p.T97S|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.T84S|ZNF280D_ENST00000267807.7_Missense_Mutation_p.T97S	p.T84S	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	5	933	-			97					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.250A>T	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.578997	0.28180	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.20738	2.05	5.49	-3.82	0.04281	.	2.695020	0.01996	N	0.045908	T	0.16981	0.0408	L	0.36672	1.1	0.80722	D	1	B;B;B	0.23937	0.094;0.024;0.008	B;B;B	0.26310	0.068;0.047;0.047	T	0.16276	-1.0408	10	0.31617	T	0.26	-2.2428	6.9834	0.24715	0.2407:0.5086:0.0:0.2506	.	97;160;97	Q7Z6J5;B4DHL1;Q6N043	.;.;Z280D_HUMAN	S	97;84	ENSP00000267807:T97S	ENSP00000267807:T97S	T	-	1	0	ZNF280D	54780515	0.971000	0.33674	0.784000	0.31847	0.997000	0.91878	-0.121000	0.10643	-0.469000	0.06911	0.477000	0.44152	ACA		0.338	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		7	73	0	0	0	1	0	7	73				
MAPKAPK2	9261	broad.mit.edu	37	1	206902780	206902780	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206902780A>G	ENST00000367103.3	+	4	717	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.Q175R	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAGGCCATCCAGTATCTGCAT	0.522																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(523-525)cAg>cGg		mitogen-activated protein kinase-activated protein kinase 2							234.0	217.0	223.0					1																	206902780		2203	4300	6503	SO:0001583	missense	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206902780A>G	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.524A>G	1.37:g.206902780A>G	ENSP00000356070:p.Gln175Arg					MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.Q175R	p.Q175R	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	717	+	Breast(84;0.183)		175			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	c.524A>G	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167727	0.57476	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.65364	-0.15;-0.15	5.56	3.26	0.37387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.39627	0.1085	N	0.12611	0.24	0.58432	D	0.999996	B;P	0.42735	0.021;0.788	B;B	0.37144	0.03;0.242	T	0.13415	-1.0510	9	0.36615	T	0.2	-23.1462	10.0157	0.42014	0.8932:0.0:0.1068:0.0	.	175;175	P49137;P49137-2	MAPK2_HUMAN;.	R	175	ENSP00000294981:Q175R;ENSP00000356070:Q175R	ENSP00000294981:Q175R	Q	+	2	0	MAPKAPK2	204969403	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.311000	0.72835	0.406000	0.25560	0.533000	0.62120	CAG		0.522	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		25	223	0	0	0	1	0	25	223				
BTAF1	9044	broad.mit.edu	37	10	93768689	93768689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93768689C>T	ENST00000265990.6	+	27	4225	c.3917C>T	c.(3916-3918)gCa>gTa	p.A1306V	BTAF1_ENST00000544642.1_Missense_Mutation_p.A134V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1306	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGCATTCTAGCAGGAGATCAT	0.328																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3916-3918)gCa>gTa		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							82.0	84.0	83.0					10																	93768689		2202	4300	6502	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768689C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3917C>T	10.37:g.93768689C>T	ENSP00000265990:p.Ala1306Val					BTAF1_ENST00000544642.1_Missense_Mutation_p.A134V	p.A1306V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			27	4225	+		Colorectal(252;0.0846)	1306			Helicase ATP-binding.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.3917C>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631786	0.87660	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;D	0.93859	-0.1;-3.3	4.98	4.98	0.66077	DEAD-like helicase (2);Armadillo-like helical (1);SNF2-related (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	L	0.56199	1.76	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	D	0.95533	0.8605	10	0.54805	T	0.06	-16.151	16.8157	0.85733	0.0:1.0:0.0:0.0	.	1306	O14981	BTAF1_HUMAN	V	1306;134;156	ENSP00000265990:A1306V;ENSP00000439924:A134V	ENSP00000265990:A1306V	A	+	2	0	BTAF1	93758669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.473000	0.83533	0.650000	0.86243	GCA		0.328	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		13	72	0	0	0	1	0	13	72				
SMC3	9126	broad.mit.edu	37	10	112362340	112362340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112362340G>T	ENST00000361804.4	+	26	3340	c.3214G>T	c.(3214-3216)Gaa>Taa	p.E1072*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1072					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGATGAAGGAGAAGGGAGTGG	0.453																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3214-3216)Gaa>Taa		structural maintenance of chromosomes 3							110.0	100.0	103.0					10																	112362340		2203	4300	6503	SO:0001587	stop_gained	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112362340G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3214G>T	10.37:g.112362340G>T	ENSP00000354720:p.Glu1072*						p.E1072*	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	26	3340	+		Breast(234;0.0848)|Lung NSC(174;0.238)	1072					A8K156|O60464|Q5T482	Nonsense_Mutation	SNP	ENST00000361804.4	37	c.3214G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	41	8.965097	0.99019	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.62	5.62	0.85841	.	0.087747	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.6696	0.95907	0.0:0.0:1.0:0.0	.	.	.	.	X	1072	.	ENSP00000354720:E1072X	E	+	1	0	SMC3	112352330	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.459000	0.97638	2.665000	0.90641	0.585000	0.79938	GAA		0.453	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		5	47	1	0	0.000602214	1	0.000649039	5	47				
DDAH1	23576	broad.mit.edu	37	1	85790441	85790441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85790441C>A	ENST00000284031.8	-	5	817	c.723G>T	c.(721-723)gaG>gaT	p.E241D	DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.E148D|DDAH1_ENST00000542148.1_Missense_Mutation_p.E141D|DDAH1_ENST00000539042.1_Missense_Mutation_p.E241D|DDAH1_ENST00000535924.2_Missense_Mutation_p.E138D	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	241					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTTCTGGATACTCTTCCGGGG	0.473																																						ENST00000284031.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5						c.(721-723)gaG>gaT		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						109.0	107.0	107.0					1																	85790441		2203	4300	6503	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85790441C>A	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.723G>T	1.37:g.85790441C>A	ENSP00000284031:p.Glu241Asp					DDAH1_ENST00000535924.2_Missense_Mutation_p.E138D|DDAH1_ENST00000426972.3_Missense_Mutation_p.E148D|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.E141D|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.E241D	p.E241D	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	5	817	-			241					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.723G>T	CCDS705.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815862	0.32145	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.77	1.87	0.25490	.	0.158919	0.56097	D	0.000035	T	0.19446	0.0467	L	0.31371	0.925	0.47949	D	0.999553	B;B	0.15141	0.012;0.002	B;B	0.17433	0.018;0.005	T	0.05649	-1.0872	9	0.21014	T	0.42	-28.2893	4.8905	0.13724	0.1346:0.5152:0.0:0.3502	.	141;241	B4DYP1;O94760	.;DDAH1_HUMAN	D	241;241;138;148;141	.	ENSP00000284031:E241D	E	-	3	2	DDAH1	85563029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.000000	0.29770	0.377000	0.24735	0.655000	0.94253	GAG		0.473	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			6	105	1	0	0.00198382	1	0.00210581	6	105				
TMPRSS7	344805	broad.mit.edu	37	3	111782478	111782478	+	Splice_Site	SNP	C	C	T	rs150107555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111782478C>T	ENST00000452346.2	+	12	1557	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	TMPRSS7_ENST00000419127.1_Splice_Site_p.C392C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	518	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.|LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTGTTTTGCGGTGGGTATT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.0					ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e12+1		transmembrane protease, serine 7							205.0	193.0	197.0					3																	111782478		1938	4153	6091	SO:0001630	splice_region_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111782478C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1555+1C>T	3.37:g.111782478C>T						TMPRSS7_ENST00000419127.1_Splice_Site_p.C392_splice	p.C518_splice			Q7RTY8	TMPS7_HUMAN			12	1557	+			518			LDL-receptor class A 1.|LDL-receptor class A 2.		C9J8P7|E9PAS3|Q17RH4	Splice_Site	SNP	ENST00000452346.2	37	c.1555_splice																																																																																					0.378	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	Silent	60	80	0	0	0	1	0	60	80				
LGR5	8549	broad.mit.edu	37	12	71918256	71918256	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71918256C>T	ENST00000266674.5	+	3	666	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	LGR5_ENST00000536515.1_Splice_Site_p.L119F|LGR5_ENST00000540815.2_Splice_Site_p.L119F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	119					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTAAAGTTCTGTAAGTAAA	0.393																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.e3+1		leucine-rich repeat containing G protein-coupled receptor 5							165.0	160.0	162.0					12																	71918256		2203	4300	6503	SO:0001630	splice_region_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71918256C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.356+1C>T	12.37:g.71918256C>T						LGR5_ENST00000540815.2_Splice_Site_p.L119_splice|LGR5_ENST00000536515.1_Splice_Site_p.L119_splice	p.L119_splice			O75473	LGR5_HUMAN			3	666	+			119					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Splice_Site	SNP	ENST00000266674.5	37	c.356_splice	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832680	0.71258	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.81415	-1.49;-1.49;-1.49	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000027	D	0.89935	0.6859	M	0.88906	2.99	0.46131	D	0.998883	D;D	0.89917	0.999;1.0	D;D	0.91635	0.967;0.999	D	0.90829	0.4715	10	0.87932	D	0	.	9.9177	0.41446	0.0:0.8473:0.0:0.1527	.	119;119	O75473-2;O75473	.;LGR5_HUMAN	F	119	ENSP00000266674:L119F;ENSP00000443033:L119F;ENSP00000441035:L119F	ENSP00000266674:L119F	L	+	1	0	LGR5	70204523	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.362000	0.52314	2.630000	0.89119	0.563000	0.77884	CTT		0.393	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	Missense_Mutation	18	42	0	0	0	1	0	18	42				
NICN1	84276	broad.mit.edu	37	3	49462403	49462403	+	Silent	SNP	G	G	A	rs200643542		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49462403G>A	ENST00000273598.3	-	5	665	c.579C>T	c.(577-579)tcC>tcT	p.S193S	AMT_ENST00000395338.2_5'Flank|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000458307.2_5'Flank|AMT_ENST00000273588.3_5'Flank|AMT_ENST00000538581.1_5'Flank|NICN1_ENST00000436744.2_Silent_p.S155S|NICN1_ENST00000422593.1_5'UTR|AMT_ENST00000476226.1_5'Flank|AMT_ENST00000546031.1_5'Flank	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	193						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGATCCTTGCGGAGGTGTGAC	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		20722	0.001		0.0	False		,,,				2504	0.0					ENST00000273598.3																			0				kidney(1)|large_intestine(3)|lung(1)	5						c.(577-579)tcC>tcT		nicolin 1							99.0	91.0	94.0					3																	49462403		2203	4300	6503	SO:0001819	synonymous_variant	84276					microtubule|nucleus		g.chr3:49462403G>A	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.579C>T	3.37:g.49462403G>A						NICN1_ENST00000436744.2_Silent_p.S155S|NICN1_ENST00000422593.1_5'UTR	p.S193S	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	665	-			193					Q8IZQ2	Silent	SNP	ENST00000273598.3	37	c.579C>T	CCDS2798.1																																																																																				0.562	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		8	23	0	0	0	1	0	8	23				
HTR1F	3355	broad.mit.edu	37	3	88040979	88040979	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040979G>A	ENST00000319595.4	+	1	1134	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	360					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CATTCCAAAAGCTTGTGCGAT	0.338																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1078-1080)aaG>aaA		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						45.0	48.0	47.0					3																	88040979		2201	4299	6500	SO:0001819	synonymous_variant	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040979G>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.1080G>A	3.37:g.88040979G>A							p.K360K	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	1134	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	360						Silent	SNP	ENST00000319595.4	37	c.1080G>A	CCDS2920.1																																																																																				0.338	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		4	49	0	0	0	1	0	4	49				
MCM7	4176	broad.mit.edu	37	7	99690594	99690594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99690594C>T	ENST00000303887.5	-	15	2766	c.2121G>A	c.(2119-2121)tgG>tgA	p.W707*	MCM7_ENST00000354230.3_Nonsense_Mutation_p.W531*|MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Nonsense_Mutation_p.W377*|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	707	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATTGACCTGCCAGACATTGA	0.587																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(2119-2121)tgG>tgA		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						90.0	93.0	92.0					7																	99690594		2203	4300	6503	SO:0001587	stop_gained	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99690594C>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.2121G>A	7.37:g.99690594C>T	ENSP00000307288:p.Trp707*					MCM7_ENST00000354230.3_Nonsense_Mutation_p.W531*|MCM7_ENST00000343023.6_Nonsense_Mutation_p.W377*	p.W707*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			15	2766	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		707			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Nonsense_Mutation	SNP	ENST00000303887.5	37	c.2121G>A	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	46	12.426476	0.99666	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.45	4.55	0.56014	.	0.145889	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5773	12.4728	0.55797	0.0:0.917:0.0:0.083	.	.	.	.	X	377;707;644;600;531	.	ENSP00000307288:W707X	W	-	3	0	MCM7	99528530	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	5.249000	0.65427	2.837000	0.97791	0.591000	0.81541	TGG		0.587	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			36	29	0	0	0	1	0	36	29				
LAMP5	24141	broad.mit.edu	37	20	9510426	9510426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9510426C>T	ENST00000246070.2	+	6	1294	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	LAMP5_ENST00000427562.2_Nonsense_Mutation_p.Q224*	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	268						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CAACCAGGTGCAGATCCCTCG	0.542																																						ENST00000246070.2																			0											c.(802-804)Cag>Tag		lysosomal-associated membrane protein family, member 5							117.0	99.0	105.0					20																	9510426		2203	4300	6503	SO:0001587	stop_gained	24141					integral to membrane		g.chr20:9510426C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.802C>T	20.37:g.9510426C>T	ENSP00000246070:p.Gln268*					LAMP5_ENST00000427562.2_Nonsense_Mutation_p.Q224*	p.Q268*	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN			6	1294	+			268					B4DHZ7|B7Z9Z9	Nonsense_Mutation	SNP	ENST00000246070.2	37	c.802C>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	40	8.438118	0.98810	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.0695	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	268;224	.	.	Q	+	1	0	C20orf103	9458426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.064000	0.76721	2.937000	0.99478	0.650000	0.86243	CAG		0.542	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		18	35	0	0	0	1	0	18	35				
IGDCC3	9543	broad.mit.edu	37	15	65621802	65621802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65621802G>A	ENST00000327987.4	-	13	2382	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	711					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.R711C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATATCCACACGTTTCTCGTCT	0.652																																						ENST00000327987.4																			1	Substitution - Missense(1)	p.R711C(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2131-2133)Cgt>Tgt		immunoglobulin superfamily, DCC subclass, member 3							59.0	70.0	66.0					15																	65621802		2200	4294	6494	SO:0001583	missense	9543							g.chr15:65621802G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2131C>T	15.37:g.65621802G>A	ENSP00000332773:p.Arg711Cys						p.R711C	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			13	2382	-			711					O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.2131C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161244	0.21538	.	.	ENSG00000174498	ENST00000327987	T	0.65916	-0.18	5.95	1.89	0.25635	.	1.141460	0.06246	N	0.691235	T	0.41511	0.1162	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24835	-1.0149	10	0.36615	T	0.2	3.1945	4.0968	0.09995	0.1343:0.1273:0.6063:0.1321	.	711	Q8IVU1	IGDC3_HUMAN	C	711	ENSP00000332773:R711C	ENSP00000332773:R711C	R	-	1	0	IGDCC3	63408855	0.056000	0.20664	0.002000	0.10522	0.042000	0.13812	0.838000	0.27572	0.097000	0.17492	0.655000	0.94253	CGT		0.652	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		62	90	0	0	0	1	0	62	90				
OR2T10	127069	broad.mit.edu	37	1	248756344	248756344	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756344G>T	ENST00000330500.2	-	1	756	c.726C>A	c.(724-726)tcC>tcA	p.S242S	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATGTGGGAGGAGCAGGTGG	0.463																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(724-726)tcC>tcA		olfactory receptor, family 2, subfamily T, member 10							81.0	79.0	80.0					1																	248756344		2050	4237	6287	SO:0001819	synonymous_variant	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756344G>T		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.726C>A	1.37:g.248756344G>T							p.S242S	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	756	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		242					B2RNK7	Silent	SNP	ENST00000330500.2	37	c.726C>A	CCDS31121.1																																																																																				0.463	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		21	46	1	0	3.62473e-10	1	4.44982e-10	21	46				
CLIP3	25999	broad.mit.edu	37	19	36508317	36508317	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508317A>G	ENST00000360535.4	-	12	1714	c.1487T>C	c.(1486-1488)gTt>gCt	p.V496A	CLIP3_ENST00000593074.1_Missense_Mutation_p.V496A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	496	GoLD.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTGGCTCCAACGCTGTCCCC	0.562																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1486-1488)gTt>gCt		CAP-GLY domain containing linker protein 3							184.0	146.0	159.0					19																	36508317		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508317A>G	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1487T>C	19.37:g.36508317A>G	ENSP00000353732:p.Val496Ala					CLIP3_ENST00000593074.1_Missense_Mutation_p.V496A|AC002116.7_ENST00000586962.1_RNA	p.V496A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		12	1714	-	Esophageal squamous(110;0.162)		496			GoLD.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1487T>C	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.587354	0.28268	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74209	-0.82	5.23	-0.664	0.11406	Cytoskeleton-associated protein, Gly-rich domain (1);	0.491201	0.20712	N	0.087071	T	0.40322	0.1112	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.05833	T	0.94	-4.9525	1.6474	0.02764	0.3652:0.1497:0.3402:0.1449	.	496	Q96DZ5	CLIP3_HUMAN	A	496;378;472	ENSP00000353732:V496A	ENSP00000353732:V496A	V	-	2	0	CLIP3	41200157	0.000000	0.05858	0.907000	0.35723	0.984000	0.73092	0.026000	0.13599	-0.164000	0.10927	0.533000	0.62120	GTT		0.562	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		12	21	0	0	0	1	0	12	21				
DUXA	503835	broad.mit.edu	37	19	57669820	57669820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57669820C>T	ENST00000554048.2	-	4	313	c.314G>A	c.(313-315)cGt>cAt	p.R105H		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTAGGTGGTACGACACCGTCT	0.468																																						ENST00000554048.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(313-315)cGt>cAt		double homeobox A							73.0	72.0	72.0					19																	57669820		2203	4300	6503	SO:0001583	missense	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57669820C>T		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.314G>A	19.37:g.57669820C>T	ENSP00000452398:p.Arg105His						p.R105H	NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	4	313	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	105						Missense_Mutation	SNP	ENST00000554048.2	37	c.314G>A	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401974	0.42613	.	.	ENSG00000258873	ENST00000554048	D	0.99167	-5.51	2.85	1.81	0.25067	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.522447	0.14524	N	0.314287	D	0.99064	0.9679	M	0.86651	2.83	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95529	0.8601	10	0.87932	D	0	-3.0855	5.8229	0.18538	0.0:0.8519:0.0:0.1481	.	105	A6NLW8	DUXA_HUMAN	H	105	ENSP00000452398:R105H	ENSP00000365415:R105H	R	-	2	0	DUXA	62361632	0.133000	0.22466	0.039000	0.18376	0.001000	0.01503	1.672000	0.37523	0.767000	0.33267	-0.140000	0.14226	CGT		0.468	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		5	51	0	0	0	1	0	5	51				
TTC30B	150737	broad.mit.edu	37	2	178415540	178415540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178415540C>A	ENST00000408939.3	-	1	2202	c.1952G>T	c.(1951-1953)aGg>aTg	p.R651M		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	651					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTTTAACTGCCTAGACTCATA	0.358																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1951-1953)aGg>aTg		tetratricopeptide repeat domain 30B							115.0	121.0	119.0					2																	178415540		2187	4295	6482	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178415540C>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1952G>T	2.37:g.178415540C>A	ENSP00000386181:p.Arg651Met						p.R651M	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	2202	-			651					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1952G>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446358	0.63178	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.34072	1.38	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73097	-0.4090	10	0.87932	D	0	.	18.7203	0.91691	0.0:1.0:0.0:0.0	.	651	Q8N4P2	TT30B_HUMAN	M	604;651	ENSP00000386181:R651M	ENSP00000386181:R651M	R	-	2	0	TTC30B	178123786	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	6.698000	0.74608	2.715000	0.92844	0.655000	0.94253	AGG		0.358	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		29	82	1	0	5.6714e-07	1	6.62436e-07	29	82				
SP6	80320	broad.mit.edu	37	17	45924776	45924776	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45924776C>A	ENST00000536300.1	-	2	1351	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	SP6_ENST00000342234.2_Missense_Mutation_p.K340N	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	340					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCGCCTCCTCCTTGGCGCCCT	0.706																																						ENST00000536300.1																			0				large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						c.(1018-1020)aaG>aaT		Sp6 transcription factor							18.0	21.0	20.0					17																	45924776		2203	4300	6503	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45924776C>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.1020G>T	17.37:g.45924776C>A	ENSP00000438209:p.Lys340Asn					SP6_ENST00000342234.2_Missense_Mutation_p.K340N	p.K340N	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN			2	1351	-			340					B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.1020G>T	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223009	0.39300	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.76709	-1.04;-1.04	4.4	-4.21	0.03812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000315	T	0.55242	0.1908	N	0.08118	0	0.34649	D	0.721429	P	0.37233	0.588	B	0.38156	0.266	T	0.55774	-0.8088	10	0.49607	T	0.09	.	12.4832	0.55856	0.0:0.7117:0.1265:0.1618	.	340	Q3SY56	SP6_HUMAN	N	340	ENSP00000340799:K340N;ENSP00000438209:K340N	ENSP00000340799:K340N	K	-	3	2	SP6	43279775	0.002000	0.14202	0.949000	0.38748	0.940000	0.58332	-0.547000	0.06055	-1.012000	0.03387	-0.379000	0.06801	AAG		0.706	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		9	11	1	0	0.00448238	1	0.00472561	9	11				
FHOD1	29109	broad.mit.edu	37	16	67272032	67272032	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272032C>A	ENST00000258201.4	-	6	795		c.e6-1			NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGCCGAGCGCTGGGGAAACA	0.592																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.e6-1		formin homology 2 domain containing 1							66.0	58.0	61.0					16																	67272032		2198	4300	6498	SO:0001630	splice_region_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67272032C>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.548-1G>T	16.37:g.67272032C>A						FHOD1_ENST00000567687.1_Intron		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	6	795	-		Ovarian(137;0.0563)						Q59F76|Q6Y1F2|Q76MS8|Q8N521	Splice_Site	SNP	ENST00000258201.4	37		CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589033	0.28357	.	.	ENSG00000135723	ENST00000258201	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1532	0.86783	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FHOD1	65829533	1.000000	0.71417	0.531000	0.27976	0.066000	0.16364	7.818000	0.86416	2.295000	0.77249	0.561000	0.74099	.		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2		Intron	6	75	1	0	0.0215528	1	0.0221649	6	75				
TMEM177	80775	broad.mit.edu	37	2	120438559	120438559	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120438559T>C	ENST00000424086.1	+	2	603	c.130T>C	c.(130-132)Tgg>Cgg	p.W44R	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.W44R|TMEM177_ENST00000409951.1_Missense_Mutation_p.W44R|TMEM177_ENST00000272521.6_Missense_Mutation_p.W44R	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	44						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGTGGTCCAATGGCTCTACCA	0.582																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(130-132)Tgg>Cgg		transmembrane protein 177							98.0	100.0	99.0					2																	120438559		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120438559T>C	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.130T>C	2.37:g.120438559T>C	ENSP00000402661:p.Trp44Arg					TMEM177_ENST00000272521.6_Missense_Mutation_p.W44R|TMEM177_ENST00000401466.1_Missense_Mutation_p.W44R|TMEM177_ENST00000409951.1_Missense_Mutation_p.W44R|TMEM177_ENST00000496203.1_Intron	p.W44R	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	603	+	Colorectal(110;0.196)		44					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.130T>C	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	T	0.276	-0.989902	0.02162	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	3.95	3.95	0.45737	.	0.403945	0.26499	N	0.024034	T	0.12305	0.0299	L	0.44542	1.39	0.29803	N	0.832246	P;P	0.46512	0.879;0.784	B;B	0.42593	0.392;0.392	T	0.02596	-1.1136	10	0.07990	T	0.79	-0.4767	6.8711	0.24121	0.206:0.0:0.0:0.7939	.	44;44	B8ZZT5;Q53S58	.;TM177_HUMAN	R	44	ENSP00000385966:W44R;ENSP00000402661:W44R;ENSP00000272521:W44R;ENSP00000405898:W44R;ENSP00000386430:W44R	ENSP00000272521:W44R	W	+	1	0	TMEM177	120155029	0.992000	0.36948	0.905000	0.35620	0.475000	0.33008	2.697000	0.47060	2.029000	0.59856	0.448000	0.29417	TGG		0.582	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		9	105	0	0	0	1	0	9	105				
URB2	9816	broad.mit.edu	37	1	229779332	229779332	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229779332C>A	ENST00000258243.2	+	5	3823	c.3687C>A	c.(3685-3687)gcC>gcA	p.A1229A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1229						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTTGGGAGCCTTGTTCACCC	0.453																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3685-3687)gcC>gcA		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							160.0	150.0	153.0					1																	229779332		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229779332C>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3687C>A	1.37:g.229779332C>A							p.A1229A	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			5	3823	+			1229					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.3687C>A	CCDS31052.1																																																																																				0.453	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		15	122	1	0	2.23348e-06	1	2.57349e-06	15	122				
PHLPP2	23035	broad.mit.edu	37	16	71736512	71736512	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71736512C>T	ENST00000568954.1	-	3	785	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PHLPP2_ENST00000567016.1_Missense_Mutation_p.R171Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R136Q			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	136					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCATAAAATCGAATCATACA	0.403																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(406-408)cGa>cAa		PH domain and leucine rich repeat protein phosphatase 2							89.0	85.0	86.0					16																	71736512		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71736512C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.407G>A	16.37:g.71736512C>T	ENSP00000457991:p.Arg136Gln					PHLPP2_ENST00000567016.1_Missense_Mutation_p.R171Q|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R136Q	p.R136Q			Q6ZVD8	PHLP2_HUMAN			2	1140	-			136					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.407G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372945	0.95923	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.37058	1.22;1.22;1.22	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.71036	2.16	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.63580	-0.6605	10	0.72032	D	0.01	-8.1393	18.22	0.89898	0.0:1.0:0.0:0.0	.	136;136	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	Q	136	ENSP00000353610:R136Q;ENSP00000348611:R136Q;ENSP00000377159:R136Q	ENSP00000348611:R136Q	R	-	2	0	PHLPP2	70294013	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.300000	0.65721	2.639000	0.89480	0.555000	0.69702	CGA		0.403	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		30	36	0	0	0	1	0	30	36				
SPATA22	84690	broad.mit.edu	37	17	3352234	3352234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3352234G>A	ENST00000573128.1	-	6	1022	c.539C>T	c.(538-540)tCa>tTa	p.S180L	SPATA22_ENST00000575375.1_Missense_Mutation_p.S180L|SPATA22_ENST00000355380.4_Missense_Mutation_p.S137L|SPATA22_ENST00000268981.5_Missense_Mutation_p.S180L|SPATA22_ENST00000572969.1_Missense_Mutation_p.S180L|SPATA22_ENST00000541913.1_Missense_Mutation_p.S164L|SPATA22_ENST00000397168.3_Missense_Mutation_p.S180L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	180					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TATTTTTGATGAATGTGTTTG	0.383																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(538-540)tCa>tTa		spermatogenesis associated 22							216.0	211.0	213.0					17																	3352234		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3352234G>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.539C>T	17.37:g.3352234G>A	ENSP00000459580:p.Ser180Leu					SPATA22_ENST00000575375.1_Missense_Mutation_p.S180L|SPATA22_ENST00000397168.3_Missense_Mutation_p.S180L|SPATA22_ENST00000541913.1_Missense_Mutation_p.S164L|SPATA22_ENST00000268981.5_Missense_Mutation_p.S180L|SPATA22_ENST00000355380.4_Missense_Mutation_p.S137L|SPATA22_ENST00000572969.1_Missense_Mutation_p.S180L	p.S180L			Q8NHS9	SPT22_HUMAN			6	1022	-			180					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.539C>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	7.648	0.682315	0.14907	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.19938	2.2;2.23;2.11;2.22	4.67	3.42	0.39159	.	0.229223	0.22666	N	0.057130	T	0.12135	0.0295	N	0.17082	0.46	0.19945	N	0.999944	B;B;B;B	0.16802	0.008;0.009;0.019;0.008	B;B;B;B	0.16722	0.009;0.016;0.015;0.009	T	0.20806	-1.0264	10	0.35671	T	0.21	-2.9144	8.2961	0.31986	0.1542:0.0:0.8458:0.0	.	164;180;137;180	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	L	137;180;180;164	ENSP00000347541:S137L;ENSP00000380354:S180L;ENSP00000268981:S180L;ENSP00000441920:S164L	ENSP00000268981:S180L	S	-	2	0	SPATA22	3298984	0.754000	0.28360	0.158000	0.22627	0.858000	0.48976	2.139000	0.42149	0.941000	0.37499	0.555000	0.69702	TCA		0.383	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		17	209	0	0	0	1	0	17	209				
ELOVL5	60481	broad.mit.edu	37	6	53139925	53139925	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53139925G>T	ENST00000542638.1	-	5	906	c.459C>A	c.(457-459)atC>atA	p.I153I	ELOVL5_ENST00000370918.4_Silent_p.I143I|ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000541407.1_Silent_p.I180I|ELOVL5_ENST00000304434.6_Silent_p.I153I|MIR5685_ENST00000579080.1_RNA			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	153					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAAACCACCAGATGTTCAGCA	0.507																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(457-459)atC>atA		ELOVL fatty acid elongase 5							124.0	99.0	108.0					6																	53139925		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53139925G>T	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.459C>A	6.37:g.53139925G>T						ELOVL5_ENST00000541407.1_Silent_p.I180I|ELOVL5_ENST00000304434.6_Silent_p.I153I|ELOVL5_ENST00000370918.4_Silent_p.I143I	p.I153I			Q9NYP7	ELOV5_HUMAN			5	906	-	Lung NSC(77;0.116)		153					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.459C>A	CCDS4951.1																																																																																				0.507	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		8	35	1	0	0.00307968	1	0.00325696	8	35				
DNAH9	1770	broad.mit.edu	37	17	11556116	11556116	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11556116C>A	ENST00000262442.4	+	14	2460	c.2392C>A	c.(2392-2394)Cat>Aat	p.H798N	DNAH9_ENST00000454412.2_Missense_Mutation_p.H798N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	798	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTAGTATTCATGATCTTGA	0.363																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2392-2394)Cat>Aat		dynein, axonemal, heavy chain 9							109.0	107.0	107.0					17																	11556116		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11556116C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2392C>A	17.37:g.11556116C>A	ENSP00000262442:p.His798Asn					DNAH9_ENST00000454412.2_Missense_Mutation_p.H798N	p.H798N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	14	2460	+		Breast(5;0.0122)|all_epithelial(5;0.131)	798			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2392C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	8.859	0.946356	0.18356	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.24350	1.9;1.86	5.38	4.4	0.53042	.	0.376195	0.31246	N	0.007998	T	0.23532	0.0569	L	0.52905	1.665	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.03017	-1.1082	10	0.21540	T	0.41	.	12.2055	0.54350	0.0:0.8645:0.0:0.1355	.	798	Q9NYC9	DYH9_HUMAN	N	798	ENSP00000262442:H798N;ENSP00000414874:H798N	ENSP00000262442:H798N	H	+	1	0	DNAH9	11496841	0.999000	0.42202	0.999000	0.59377	0.990000	0.78478	1.542000	0.36137	2.691000	0.91804	0.650000	0.86243	CAT		0.363	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		40	77	1	0	6.1244e-12	1	7.67368e-12	40	77				
SUPT16H	11198	broad.mit.edu	37	14	21825521	21825521	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21825521G>T	ENST00000216297.2	-	22	2833	c.2495C>A	c.(2494-2496)cCt>cAt	p.P832H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	832					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CACCACAAAAGGTGGCTGTCA	0.388																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2494-2496)cCt>cAt		suppressor of Ty 16 homolog (S. cerevisiae)							72.0	61.0	65.0					14																	21825521		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21825521G>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2495C>A	14.37:g.21825521G>T	ENSP00000216297:p.Pro832His						p.P832H	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	2833	-	all_cancers(95;0.00115)		832					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2495C>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751782	0.69533	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.43	5.43	0.79202	Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.71206	2.165	0.80722	D	1	P	0.42735	0.788	P	0.44359	0.447	T	0.63005	-0.6733	9	0.15499	T	0.54	-8.9492	18.0282	0.89275	0.0:0.0:1.0:0.0	.	832	Q9Y5B9	SP16H_HUMAN	H	832	.	ENSP00000216297:P832H	P	-	2	0	SUPT16H	20895361	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.834000	0.92094	2.544000	0.85801	0.655000	0.94253	CCT		0.388	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	27	1	0	0.184627	1	0.186383	4	27				
PTGFR	5737	broad.mit.edu	37	1	79002308	79002308	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002308A>C	ENST00000370757.3	+	3	1253	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	PTGFR_ENST00000370758.1_Missense_Mutation_p.K339T|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	339					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AGTTCCATTAAAAATTCCTTA	0.418																																						ENST00000370757.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1015-1017)aAa>aCa		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						73.0	71.0	72.0					1																	79002308		2203	4299	6502	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002308A>C	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.1016A>C	1.37:g.79002308A>C	ENSP00000359793:p.Lys339Thr					PTGFR_ENST00000370758.1_Missense_Mutation_p.K339T|PTGFR_ENST00000370756.3_3'UTR	p.K339T	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1253	+			339					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.1016A>C	CCDS686.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425459	0.83667	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	D;D	0.90732	-2.72;-2.72	5.85	5.85	0.93711	.	0.218833	0.42294	D	0.000721	D	0.89364	0.6694	L	0.56769	1.78	0.80722	D	1	P	0.52842	0.956	P	0.50082	0.63	D	0.88705	0.3218	10	0.38643	T	0.18	-19.4373	16.5479	0.84454	1.0:0.0:0.0:0.0	.	339	P43088	PF2R_HUMAN	T	339	ENSP00000359794:K339T;ENSP00000359793:K339T	ENSP00000359793:K339T	K	+	2	0	PTGFR	78774896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.672000	0.74477	2.371000	0.80710	0.533000	0.62120	AAA		0.418	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		9	93	0	0	0	1	0	9	93				
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	G	A	rs548971268		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118199236G>A	ENST00000339824.5	-	4	1293	c.566C>T	c.(565-567)cCg>cTg	p.P189L	KSR2_ENST00000425217.1_Missense_Mutation_p.P160L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P221L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGATCCACGGGGTGGGCTC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		13475	0.001		0.0	False		,,,				2504	0.0					ENST00000425217.1																			2	Substitution - Missense(2)	p.P221L(2)	lung(1)|endometrium(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(478-480)cCg>cTg		kinase suppressor of ras 2							44.0	46.0	45.0					12																	118199236		1917	4119	6036	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199236G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.566C>T	12.37:g.118199236G>A	ENSP00000339952:p.Pro189Leu					KSR2_ENST00000339824.5_Missense_Mutation_p.P189L	p.P160L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	533	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		189					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.479C>T		.	.	.	.	.	.	.	.	.	.	G	14.17	2.455543	0.43634	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.78481	-1.14;-1.18	4.63	4.63	0.57726	.	0.272326	0.37178	N	0.002206	T	0.69106	0.3074	L	0.39898	1.24	0.45777	D	0.998664	B	0.06786	0.001	B	0.01281	0.0	T	0.68326	-0.5438	10	0.72032	D	0.01	.	11.4279	0.50022	0.0:0.0:0.6965:0.3035	.	189	Q6VAB6	KSR2_HUMAN	L	160;189	ENSP00000389715:P160L;ENSP00000339952:P189L	ENSP00000339952:P189L	P	-	2	0	KSR2	116683619	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	3.018000	0.49625	2.385000	0.81259	0.491000	0.48974	CCG		0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		6	43	0	0	0	1	0	6	43				
FAM117A	81558	broad.mit.edu	37	17	47799936	47799936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47799936C>T	ENST00000240364.2	-	3	466	c.387G>A	c.(385-387)gaG>gaA	p.E129E	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	129										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CACCTTCTAGCTCTTGCCAGG	0.572																																						ENST00000240364.2																			0				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(385-387)gaG>gaA		family with sequence similarity 117, member A							87.0	68.0	74.0					17																	47799936		2203	4300	6503	SO:0001819	synonymous_variant	81558							g.chr17:47799936C>T	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.387G>A	17.37:g.47799936C>T						FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	p.E129E	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN			3	466	-			129					B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.387G>A	CCDS11553.1																																																																																				0.572	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		11	9	0	0	0	1	0	11	9				
TXNDC5	81567	broad.mit.edu	37	6	7891855	7891855	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7891855T>G	ENST00000379757.4	-	5	768	c.731A>C	c.(730-732)aAg>aCg	p.K244T	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Splice_Site_p.K172T|TXNDC5_ENST00000473453.1_Splice_Site_p.K136T	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	244	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTCACTCACCTTGCCAATCTT	0.498																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			0											c.e5+1									88.0	84.0	85.0					6																	7891855		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr6:7891855T>G	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.732+1A>C	6.37:g.7891855T>G						TXNDC5_ENST00000473453.1_Splice_Site_p.K136_splice|BLOC1S5-TXNDC5_ENST00000604490.1_Splice_Site_p.K136_splice|TXNDC5_ENST00000379757.4_Splice_Site_p.K244_splice	p.K172_splice							5	514	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Splice_Site	SNP	ENST00000379757.4	37	c.516_splice	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773071	0.90108	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.04706	3.57;3.57;3.57	5.27	5.27	0.74061	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.995	T	0.30208	-0.9986	10	0.72032	D	0.01	.	15.188	0.73020	0.0:0.0:0.0:1.0	.	172;244	Q86UY0;Q8NBS9	.;TXND5_HUMAN	T	172;244;136	ENSP00000442453:K172T;ENSP00000369081:K244T;ENSP00000420784:K136T	ENSP00000442453:K172T	K	-	2	0	TXNDC5	7836854	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.760000	0.85248	1.984000	0.57885	0.533000	0.62120	AAG		0.498	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810	Missense_Mutation	5	42	0	0	0	1	0	5	42				
NRP2	8828	broad.mit.edu	37	2	206605345	206605345	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206605345G>T	ENST00000357785.5	+	8	1280	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	NRP2_ENST00000272849.3_Missense_Mutation_p.G417C|NRP2_ENST00000360409.3_Missense_Mutation_p.G417C|NRP2_ENST00000540178.1_Missense_Mutation_p.G417C|NRP2_ENST00000540841.1_Missense_Mutation_p.G417C|NRP2_ENST00000357118.4_Missense_Mutation_p.G417C|NRP2_ENST00000412873.2_Missense_Mutation_p.G417C|NRP2_ENST00000355117.4_Missense_Mutation_p.G417C|NRP2_ENST00000417189.1_Missense_Mutation_p.G417C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGGCACTCAGGTATCGCCCT	0.582																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1249-1251)Ggt>Tgt		neuropilin 2							104.0	87.0	93.0					2																	206605345		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206605345G>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1249G>T	2.37:g.206605345G>T	ENSP00000350432:p.Gly417Cys					NRP2_ENST00000357785.5_Missense_Mutation_p.G417C|NRP2_ENST00000272849.3_Missense_Mutation_p.G417C|NRP2_ENST00000355117.4_Missense_Mutation_p.G417C|NRP2_ENST00000357118.4_Missense_Mutation_p.G417C|NRP2_ENST00000417189.1_Missense_Mutation_p.G417C|NRP2_ENST00000540841.1_Missense_Mutation_p.G417C|NRP2_ENST00000412873.2_Missense_Mutation_p.G417C|NRP2_ENST00000540178.1_Missense_Mutation_p.G417C	p.G417C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			8	2040	+			417			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1249G>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780927	0.70222	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88	5.97	5.97	0.96955	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	M	0.83384	2.64	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	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99719	1.1009	10	0.87932	D	0	-31.0745	20.428	0.99075	0.0:0.0:1.0:0.0	.	417;417;417;417;417;417	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	417	ENSP00000353582:G417C;ENSP00000439658:G417C;ENSP00000439261:G417C;ENSP00000347238:G417C;ENSP00000387519:G417C;ENSP00000349632:G417C;ENSP00000350432:G417C;ENSP00000407626:G417C;ENSP00000272849:G417C	ENSP00000272849:G417C	G	+	1	0	NRP2	206313590	1.000000	0.71417	0.965000	0.40720	0.011000	0.07611	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GGT		0.582	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			4	57	1	0	0.150653	1	0.152692	4	57				
PCSK2	5126	broad.mit.edu	37	20	17434413	17434413	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17434413C>T	ENST00000262545.2	+	9	1227	c.912C>T	c.(910-912)taC>taT	p.Y304Y	PCSK2_ENST00000377899.1_Silent_p.Y285Y|PCSK2_ENST00000536609.1_Silent_p.Y269Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	304	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAGCATCTACGTGTGGGCCT	0.677																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(910-912)taC>taT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						66.0	55.0	59.0					20																	17434413		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434413C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.912C>T	20.37:g.17434413C>T						PCSK2_ENST00000377899.1_Silent_p.Y285Y|PCSK2_ENST00000536609.1_Silent_p.Y269Y	p.Y304Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			9	1227	+			304			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.912C>T	CCDS13125.1																																																																																				0.677	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		4	61	0	0	0	1	0	4	61				
TRIML1	339976	broad.mit.edu	37	4	189060811	189060811	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189060811C>T	ENST00000332517.3	+	1	239	c.99C>T	c.(97-99)caC>caT	p.H33H	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	33					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGTGTGGGCACAGCTTTTGTC	0.517																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(97-99)caC>caT		tripartite motif family-like 1							180.0	179.0	180.0					4																	189060811		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060811C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.99C>T	4.37:g.189060811C>T							p.H33H	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	239	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	33					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.99C>T	CCDS3851.1																																																																																				0.517	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		6	231	0	0	0	1	0	6	231				
MAVS	57506	broad.mit.edu	37	20	3846354	3846354	+	Missense_Mutation	SNP	G	G	A	rs143089997		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3846354G>A	ENST00000428216.2	+	7	1311	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	MAVS_ENST00000416600.2_Missense_Mutation_p.A254T|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	395					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCCAACACCCGCCGGCGCCAC	0.637																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1183-1185)Gcc>Acc		mitochondrial antiviral signaling protein		G	THR/ALA,THR/ALA	1,4389		0,1,2194	15.0	16.0	16.0		760,1183	-0.9	0.0	20	dbSNP_134	16	0,8568		0,0,4284	no	missense,missense	MAVS	NM_001206491.1,NM_020746.4	58,58	0,1,6478	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	254/400,395/541	3846354	1,12957	2195	4284	6479	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3846354G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1183G>A	20.37:g.3846354G>A	ENSP00000401980:p.Ala395Thr					MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A254T	p.A395T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			7	1311	+			395					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.1183G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	1.558	-0.537356	0.04082	2.28E-4	0.0	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.28454	1.61;2.61	4.41	-0.863	0.10669	.	1.054890	0.07471	N	0.902223	T	0.13628	0.0330	N	0.13098	0.295	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.31280	-0.9949	10	0.07813	T	0.8	4.1193	4.2851	0.10851	0.4147:0.1909:0.3943:0.0	.	395	Q7Z434	MAVS_HUMAN	T	254;395	ENSP00000413749:A254T;ENSP00000401980:A395T	ENSP00000413749:A254T	A	+	1	0	MAVS	3794354	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.055000	0.11807	-0.151000	0.11176	-0.302000	0.09304	GCC		0.637	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		6	3	0	0	0	1	0	6	3				
KCNH3	23416	broad.mit.edu	37	12	49950231	49950231	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950231A>G	ENST00000257981.6	+	13	2807	c.2547A>G	c.(2545-2547)gaA>gaG	p.E849E	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	849					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGCCCGGAATGTAGCAGCA	0.617																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2545-2547)gaA>gaG		potassium voltage-gated channel, subfamily H (eag-related), member 3							77.0	72.0	74.0					12																	49950231		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49950231A>G	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2547A>G	12.37:g.49950231A>G							p.E849E	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			13	2807	+			849					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.2547A>G	CCDS8786.1																																																																																				0.617	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		9	51	0	0	0	1	0	9	51				
DGKG	1608	broad.mit.edu	37	3	186002489	186002489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186002489C>T	ENST00000265022.3	-	7	1093	c.554G>A	c.(553-555)cGc>cAc	p.R185H	DGKG_ENST00000382164.4_Missense_Mutation_p.R185H|DGKG_ENST00000344484.4_Missense_Mutation_p.R185H|DGKG_ENST00000544847.1_Missense_Mutation_p.R185H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	185	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATCATAGAGGCGAAACATGAC	0.483																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(553-555)cGc>cAc		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						128.0	114.0	119.0					3																	186002489		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186002489C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.554G>A	3.37:g.186002489C>T	ENSP00000265022:p.Arg185His					DGKG_ENST00000544847.1_Missense_Mutation_p.R185H|DGKG_ENST00000344484.4_Missense_Mutation_p.R185H|DGKG_ENST00000382164.4_Missense_Mutation_p.R185H	p.R185H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	7	1093	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		185			EF-hand 1.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.554G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643714	0.67244	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.96	3.2	0.36748	EF-hand-like domain (1);	0.122368	0.56097	N	0.000025	T	0.76407	0.3983	M	0.62088	1.915	0.80722	D	1	P;P;D;D	0.89917	0.924;0.924;0.997;1.0	P;P;P;D	0.79784	0.535;0.535;0.837;0.993	T	0.75169	-0.3412	10	0.46703	T	0.11	.	10.6087	0.45408	0.0:0.7855:0.0:0.2145	.	185;185;185;185	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	H	185;185;185;185;188	ENSP00000265022:R185H;ENSP00000339777:R185H;ENSP00000371599:R185H;ENSP00000440507:R185H	ENSP00000265022:R185H	R	-	2	0	DGKG	187485183	0.553000	0.26513	1.000000	0.80357	0.993000	0.82548	1.127000	0.31357	0.864000	0.35578	0.655000	0.94253	CGC		0.483	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			17	44	0	0	0	1	0	17	44				
DOCK8	81704	broad.mit.edu	37	9	379793	379793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:379793C>T	ENST00000453981.1	+	21	2575	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	DOCK8_ENST00000382331.1_Silent_p.F123F|DOCK8_ENST00000382329.1_Silent_p.F288F|DOCK8_ENST00000432829.2_Silent_p.F753F|DOCK8_ENST00000469391.1_Silent_p.F753F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	821					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTTTGCCTTCGAGTCCGTGG	0.557																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2257-2259)ttC>ttT		dedicator of cytokinesis 8							117.0	104.0	108.0					9																	379793		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:379793C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2463C>T	9.37:g.379793C>T						DOCK8_ENST00000469391.1_Silent_p.F753F|DOCK8_ENST00000382329.1_Silent_p.F288F|DOCK8_ENST00000382331.1_Silent_p.F123F|DOCK8_ENST00000453981.1_Silent_p.F821F	p.F753F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	21	2575	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	821					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.2259C>T	CCDS6440.2																																																																																				0.557	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		9	12	0	0	0	1	0	9	12				
L1CAM	3897	broad.mit.edu	37	X	153128322	153128322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153128322G>A	ENST00000370060.1	-	29	3759	c.3570C>T	c.(3568-3570)agC>agT	p.S1190S	L1CAM_ENST00000361699.4_Silent_p.S1186S|L1CAM_ENST00000538883.1_Silent_p.S1188S|L1CAM_ENST00000543994.1_Silent_p.S1192S|L1CAM_ENST00000361981.3_Silent_p.S1181S|L1CAM_ENST00000370057.3_Silent_p.S1190S|L1CAM_ENST00000370055.1_Silent_p.S1181S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1190					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCTGGCTGCTGCCAAAGG	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3568-3570)agC>agT		L1 cell adhesion molecule							53.0	39.0	44.0					X																	153128322		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128322G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3570C>T	X.37:g.153128322G>A						L1CAM_ENST00000361981.3_Silent_p.S1181S|L1CAM_ENST00000370057.3_Silent_p.S1190S|L1CAM_ENST00000370055.1_Silent_p.S1181S|L1CAM_ENST00000361699.4_Silent_p.S1186S|L1CAM_ENST00000543994.1_Silent_p.S1192S|L1CAM_ENST00000538883.1_Silent_p.S1188S	p.S1190S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			29	3759	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1190					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3570C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		7	10	0	0	0	1	0	7	10				
OASL	8638	broad.mit.edu	37	12	121461853	121461853	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461853G>A	ENST00000257570.5	-	5	1257	c.987C>T	c.(985-987)tgC>tgT	p.C329C	OASL_ENST00000339275.5_Missense_Mutation_p.P249S	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	329					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGTTTCAGGCACTGGGAGG	0.572																																					Colon(192;517 2041 31392 31913 39966)	ENST00000339275.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(745-747)Cct>Tct		2'-5'-oligoadenylate synthetase-like							156.0	119.0	131.0					12																	121461853		2203	4300	6503	SO:0001819	synonymous_variant	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121461853G>A	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.987C>T	12.37:g.121461853G>A						OASL_ENST00000257570.5_Silent_p.C329C	p.P249S	NM_198213.2	NP_937856.1	Q15646	OASL_HUMAN			4	929	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.745C>T	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515582	0.44763	.	.	ENSG00000135114	ENST00000339275	T	0.08896	3.04	5.74	3.9	0.45041	.	.	.	.	.	T	0.03959	0.0111	.	.	.	0.21652	N	0.999605	P	0.36683	0.565	B	0.33254	0.16	T	0.34775	-0.9815	8	0.08381	T	0.77	4.3517	8.2274	0.31577	0.1846:0.0:0.8154:0.0	.	249	Q15646-2	.	S	249	ENSP00000341125:P249S	ENSP00000341125:P249S	P	-	1	0	OASL	119946236	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	3.793000	0.55484	0.762000	0.33152	0.655000	0.94253	CCT		0.572	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		22	37	0	0	0	1	0	22	37				
SLC4A4	8671	broad.mit.edu	37	4	72412185	72412185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72412185G>A	ENST00000264485.5	+	19	2678	c.2561G>A	c.(2560-2562)aGt>aAt	p.S854N	SLC4A4_ENST00000340595.3_Missense_Mutation_p.S810N|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S854N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	854					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CACATCGACAGTTTGAAGATG	0.478																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2428-2430)aGt>aAt		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							168.0	130.0	143.0					4																	72412185		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72412185G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2561G>A	4.37:g.72412185G>A	ENSP00000264485:p.Ser854Asn					SLC4A4_ENST00000425175.1_Missense_Mutation_p.S854N|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S854N	p.S810N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		16	2625	+			854					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2429G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261151	0.95368	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	D;D;D	0.81908	-1.55;-1.55;-1.55	5.76	5.76	0.90799	Bicarbonate transporter, C-terminal (1);	0.075843	0.85682	D	0.000000	D	0.93835	0.8028	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.999	D;P;D	0.79108	0.992;0.875;0.992	D	0.94730	0.7909	10	0.87932	D	0	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	854;810;854	A5JJ20;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	N	854;854;810	ENSP00000264485:S854N;ENSP00000393557:S854N;ENSP00000344272:S810N	ENSP00000264485:S854N	S	+	2	0	SLC4A4	72631049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.845000	0.62853	2.713000	0.92767	0.655000	0.94253	AGT		0.478	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		22	37	0	0	0	1	0	22	37				
ADAMTSL4	54507	broad.mit.edu	37	1	150526083	150526083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150526083G>A	ENST00000369038.2	+	4	817	c.616G>A	c.(616-618)Gca>Aca	p.A206T	MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A206T			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	206					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCATTCTCCGCAAACGGCAG	0.587																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(616-618)Gca>Aca		ADAMTS-like 4							134.0	125.0	128.0					1																	150526083		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150526083G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.616G>A	1.37:g.150526083G>A	ENSP00000358034:p.Ala206Thr					ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A206T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A206T	p.A206T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	852	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		206					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.616G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	5.456	0.269309	0.10349	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.62498	0.12;0.02;0.3;0.02	4.66	-8.0	0.01126	.	.	.	.	.	T	0.08268	0.0206	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.13361	-1.0512	9	0.13470	T	0.59	.	1.7242	0.02918	0.49:0.1196:0.1685:0.2219	.	206;206;206;206	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	T	206	ENSP00000358037:A206T;ENSP00000271643:A206T;ENSP00000358035:A206T;ENSP00000358034:A206T	ENSP00000271643:A206T	A	+	1	0	ADAMTSL4	148792707	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.614000	0.02057	-1.650000	0.01506	-2.134000	0.00341	GCA		0.587	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		20	51	0	0	0	1	0	20	51				
IFT22	64792	broad.mit.edu	37	7	100959652	100959652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100959652G>A	ENST00000315322.4	-	4	471	c.378C>T	c.(376-378)ggC>ggT	p.G126G	RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Silent_p.G96G|RABL5_ENST00000498704.2_Silent_p.G49G|RABL5_ENST00000517481.1_Silent_p.G49G	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		126					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CATCTCCAGAGCCTGGTTTGT	0.448																																						ENST00000517481.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(145-147)ggC>ggT		RAB, member RAS oncogene family-like 5							180.0	155.0	163.0					7																	100959652		2203	4300	6503	SO:0001819	synonymous_variant	64792						GTP binding	g.chr7:100959652G>A																												ENST00000315322.4:c.378C>T	7.37:g.100959652G>A						RABL5_ENST00000437644.2_Silent_p.G96G|RABL5_ENST00000498704.2_Silent_p.G49G|RABL5_ENST00000315322.4_Silent_p.G126G|RABL5_ENST00000495166.1_5'UTR	p.G49G			Q9H7X7	RABL5_HUMAN			5	517	-	Lung NSC(181;0.215)		126					Q49AG1|Q69YV5|Q9BSW4	Silent	SNP	ENST00000315322.4	37	c.147C>T	CCDS5719.1																																																																																				0.448	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1			65	50	0	0	0	1	0	65	50				
AKR1CL1	340811	broad.mit.edu	37	10	5204849	5204849	+	Silent	SNP	G	G	A	rs140274935		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5204849G>A	ENST00000334314.3	-	2	304	c.228C>T	c.(226-228)acC>acT	p.T76T	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	76						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCTCTTGACGGTACCATCAG	0.418													g|||	1	0.000199681	0.0	0.0	5008	,	,		19815	0.001		0.0	False		,,,				2504	0.0				Ovarian(129;1623 1737 25446 28757 47467)	ENST00000334314.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(226-228)acC>acT		aldo-keto reductase family 1, member C-like 1		A		0,4406		0,0,2203	212.0	197.0	202.0			-6.6	0.0	10	dbSNP_134	202	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			5204849	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	340811							g.chr10:5204849G>A			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.228C>T	10.37:g.5204849G>A							p.T76T							2	304	-								A6NF66|Q6ZN81	Silent	SNP	ENST00000334314.3	37	c.228C>T																																																																																					0.418	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916		25	177	0	0	0	1	0	25	177				
PHTF1	10745	broad.mit.edu	37	1	114246748	114246748	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114246748C>A	ENST00000369604.1	-	15	2328	c.1845G>T	c.(1843-1845)tcG>tcT	p.S615S	PHTF1_ENST00000369596.2_Silent_p.S562S|PHTF1_ENST00000393357.2_Silent_p.S615S|PHTF1_ENST00000369598.1_Silent_p.S570S|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.S562S|PHTF1_ENST00000357783.2_Silent_p.S615S			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	615					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGAAAACCGAGGATACAA	0.423																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1843-1845)tcG>tcT		putative homeodomain transcription factor 1							129.0	105.0	113.0					1																	114246748		2203	4300	6503	SO:0001819	synonymous_variant	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114246748C>A	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1845G>T	1.37:g.114246748C>A						PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.S562S|PHTF1_ENST00000369598.1_Silent_p.S570S|PHTF1_ENST00000357783.2_Silent_p.S615S|PHTF1_ENST00000393357.2_Silent_p.S615S|PHTF1_ENST00000369596.2_Silent_p.S562S	p.S615S			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2328	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	615					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Silent	SNP	ENST00000369604.1	37	c.1845G>T	CCDS861.1																																																																																				0.423	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		13	12	1	0	9.05144e-12	1	1.1316e-11	13	12				
FLNC	2318	broad.mit.edu	37	7	128488685	128488685	+	Missense_Mutation	SNP	G	G	A	rs565918031		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128488685G>A	ENST00000325888.8	+	27	4912	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	FLNC_ENST00000346177.6_Missense_Mutation_p.A1551T|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1551					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCCTCAACGCCTCTGGCAT	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14378	0.0		0.0	False		,,,				2504	0.0					ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4651-4653)Gcc>Acc		filamin C, gamma							93.0	107.0	102.0					7																	128488685		2050	4206	6256	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488685G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4651G>A	7.37:g.128488685G>A	ENSP00000327145:p.Ala1551Thr					FLNC_ENST00000346177.6_Missense_Mutation_p.A1551T	p.A1551T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			27	4912	+			1551					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4651G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	3.815	-0.038938	0.07497	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85088	-1.94;-1.94	5.09	5.09	0.68999	Immunoglobulin E-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.204155	0.44688	D	0.000439	T	0.59169	0.2174	N	0.02142	-0.665	0.35598	D	0.807653	B;B	0.17852	0.024;0.001	B;B	0.12156	0.007;0.003	T	0.61922	-0.6963	10	0.02654	T	1	.	8.3487	0.32288	0.0807:0.0:0.7534:0.1659	.	1551;1551	Q14315-2;Q14315	.;FLNC_HUMAN	T	1551	ENSP00000327145:A1551T;ENSP00000344002:A1551T	ENSP00000327145:A1551T	A	+	1	0	FLNC	128275921	0.098000	0.21812	0.832000	0.32986	0.889000	0.51656	0.590000	0.23954	2.513000	0.84729	0.655000	0.94253	GCC		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			21	114	0	0	0	1	0	21	114				
HELZ	9931	broad.mit.edu	37	17	65082989	65082989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65082989G>A	ENST00000358691.5	-	32	5616	c.5450C>T	c.(5449-5451)cCg>cTg	p.P1817L	HELZ_ENST00000580168.1_Missense_Mutation_p.P1818L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1817						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCATTGCACGGAATGTTCTG	0.473																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5449-5451)cCg>cTg		helicase with zinc finger							146.0	150.0	149.0					17																	65082989		2023	4192	6215	SO:0001583	missense	9931							g.chr17:65082989G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5450C>T	17.37:g.65082989G>A	ENSP00000351524:p.Pro1817Leu					HELZ_ENST00000580168.1_Missense_Mutation_p.P1818L	p.P1817L	NM_014877.3	NP_055692.2					32	5616	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5450C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215053	0.58452	.	.	ENSG00000198265	ENST00000358691	D	0.93366	-3.21	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.91392	0.7284	L	0.32530	0.975	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.44772	0.46;0.46	D	0.92231	0.5792	10	0.87932	D	0	-13.8795	20.2885	0.98538	0.0:0.0:1.0:0.0	.	1818;1817	B7ZLW2;P42694	.;HELZ_HUMAN	L	1817	ENSP00000351524:P1817L	ENSP00000351524:P1817L	P	-	2	0	HELZ	62513451	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.102000	0.94226	2.791000	0.96007	0.650000	0.86243	CCG		0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		38	69	0	0	0	1	0	38	69				
ZNF317	57693	broad.mit.edu	37	19	9271665	9271665	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9271665C>T	ENST00000247956.6	+	7	1649	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	ZNF317_ENST00000360385.3_Silent_p.C416C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CATACGGGTGCGATCTCTGCG	0.547																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1342-1344)tgC>tgT		zinc finger protein 317							67.0	64.0	65.0					19																	9271665		2203	4300	6503	SO:0001819	synonymous_variant	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271665C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1344C>T	19.37:g.9271665C>T						ZNF317_ENST00000360385.3_Silent_p.C416C	p.C448C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1649	+			448					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	c.1344C>T	CCDS12210.1																																																																																				0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		13	19	0	0	0	1	0	13	19				
EPPK1	83481	broad.mit.edu	37	8	144941538	144941538	+	Missense_Mutation	SNP	C	C	T	rs554849814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941538C>T	ENST00000525985.1	-	2	5955	c.5884G>A	c.(5884-5886)Gag>Aag	p.E1962K				P58107	EPIPL_HUMAN	epiplakin 1	1962						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCAGCTCCTCGTTCACCAGG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17010	0.0		0.0	False		,,,				2504	0.001					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5884-5886)Gag>Aag		epiplakin 1							46.0	55.0	52.0					8																	144941538		2049	4187	6236	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941538C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5884G>A	8.37:g.144941538C>T	ENSP00000436337:p.Glu1962Lys						p.E1962K			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5955	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1962					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5884G>A		.	.	.	.	.	.	.	.	.	.	C	13.41	2.228528	0.39399	.	.	ENSG00000227184	ENST00000525985	T	0.74002	-0.8	5.12	-2.71	0.05986	.	.	.	.	.	T	0.46151	0.1378	N	0.26130	0.795	0.09310	N	1	P	0.45212	0.853	B	0.30782	0.12	T	0.48525	-0.9028	9	0.09590	T	0.72	.	6.0323	0.19686	0.0:0.282:0.3463:0.3717	.	1962	E9PPU0	.	K	1962	ENSP00000436337:E1962K	ENSP00000436337:E1962K	E	-	1	0	EPPK1	145013526	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.894000	0.01607	-0.631000	0.05560	-0.458000	0.05436	GAG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		32	48	0	0	0	1	0	32	48				
FAM109B	150368	broad.mit.edu	37	22	42473371	42473371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42473371G>A	ENST00000321753.3	+	3	261	c.74G>A	c.(73-75)cGc>cAc	p.R25H	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	25	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GGCTTCCTGCGCACCTGGGGG	0.622																																						ENST00000321753.3																			0				endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						c.(73-75)cGc>cAc		family with sequence similarity 109, member B							53.0	56.0	55.0					22																	42473371		2203	4299	6502	SO:0001583	missense	150368				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr22:42473371G>A	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.74G>A	22.37:g.42473371G>A	ENSP00000312753:p.Arg25His						p.R25H	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN			3	261	+			25			PH.		Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	c.74G>A	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.713900	0.48622	.	.	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.75367	-0.93;-0.93	4.54	4.54	0.55810	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.669075	0.15730	N	0.247485	T	0.73179	0.3554	N	0.19112	0.55	0.34244	D	0.677929	D	0.76494	0.999	D	0.68765	0.96	T	0.72283	-0.4339	10	0.20046	T	0.44	-20.2196	11.0293	0.47763	0.0854:0.0:0.9146:0.0	.	25	Q6ICB4	SESQ2_HUMAN	H	25	ENSP00000312753:R25H;ENSP00000396170:R25H	ENSP00000312753:R25H	R	+	2	0	FAM109B	40803317	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.822000	0.55708	2.333000	0.79357	0.591000	0.81541	CGC		0.622	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		31	49	0	0	0	1	0	31	49				
ZNFX1	57169	broad.mit.edu	37	20	47868156	47868156	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47868156G>A	ENST00000396105.1	-	13	3466	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1074C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1074C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1074							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGCACATACGGTGCTGAAAA	0.433																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3220-3222)Cgt>Tgt		zinc finger, NFX1-type containing 1							63.0	58.0	60.0					20																	47868156		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47868156G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3220C>T	20.37:g.47868156G>A	ENSP00000379412:p.Arg1074Cys					ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1074C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1074C	p.R1074C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		13	3466	-			1074					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3220C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378415	0.95945	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	D;D;D	0.99888	-7.54;-4.72;-4.72	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99939	0.9973	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96281	0.9206	10	0.87932	D	0	-26.3983	19.0799	0.93178	0.0:0.0:1.0:0.0	.	1074	Q9P2E3	ZNFX1_HUMAN	C	1074	ENSP00000360819:R1074C;ENSP00000360817:R1074C;ENSP00000379412:R1074C	ENSP00000360817:R1074C	R	-	1	0	ZNFX1	47301563	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.607000	0.98328	2.852000	0.98041	0.643000	0.83706	CGT		0.433	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		5	16	0	0	0	1	0	5	16				
SLC39A14	23516	broad.mit.edu	37	8	22275310	22275310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22275310G>A	ENST00000381237.1	+	8	1413	c.1294G>A	c.(1294-1296)Gct>Act	p.A432T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A432T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A432T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A432T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	432					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TTTTGCGCTAGCTGGAGGAAT	0.512																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(1294-1296)Gct>Act		solute carrier family 39 (zinc transporter), member 14							112.0	96.0	101.0					8																	22275310		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22275310G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1294G>A	8.37:g.22275310G>A	ENSP00000370635:p.Ala432Thr					SLC39A14_ENST00000381237.1_Missense_Mutation_p.A432T|SLC39A14_ENST00000289952.5_Missense_Mutation_p.A432T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A432T	p.A432T	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	8	1469	+			432					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.1294G>A	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409416	0.83340	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.17764	0.52	0.80722	D	1	P;D;D	0.71674	0.837;0.998;0.998	P;D;D	0.73380	0.747;0.98;0.98	T	0.30851	-0.9964	10	0.02654	T	1	-15.5843	19.1111	0.93317	0.0:0.0:1.0:0.0	.	432;432;432	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	T	432	ENSP00000352779:A432T;ENSP00000240095:A432T;ENSP00000370635:A432T;ENSP00000289952:A432T	ENSP00000240095:A432T	A	+	1	0	SLC39A14	22331255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.795000	0.99099	2.812000	0.96745	0.556000	0.70494	GCT		0.512	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		18	33	0	0	0	1	0	18	33				
ILF2	3608	broad.mit.edu	37	1	153637767	153637767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153637767G>A	ENST00000361891.4	-	8	631	c.506C>T	c.(505-507)tCt>tTt	p.S169F	ILF2_ENST00000480213.1_5'Flank	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	169	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAGCATCAGAAGAACTGAT	0.353																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(505-507)tCt>tTt		interleukin enhancer binding factor 2							104.0	102.0	102.0					1																	153637767		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153637767G>A	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.506C>T	1.37:g.153637767G>A	ENSP00000355011:p.Ser169Phe						p.S169F	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		8	631	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		169			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.506C>T	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979077	0.92982	.	.	ENSG00000143621	ENST00000361891	T	0.46063	0.88	5.66	5.66	0.87406	DZF (2);	0.049995	0.85682	D	0.000000	T	0.50205	0.1602	M	0.63843	1.955	0.80722	D	1	P;P	0.44776	0.811;0.843	P;P	0.55455	0.667;0.776	T	0.47812	-0.9088	10	0.56958	D	0.05	-11.6652	17.2504	0.87041	0.0:0.0:1.0:0.0	.	169;169	F4ZW62;Q12905	.;ILF2_HUMAN	F	169	ENSP00000355011:S169F	ENSP00000355011:S169F	S	-	2	0	ILF2	151904391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.438000	0.90305	2.671000	0.90904	0.563000	0.77884	TCT		0.353	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		30	58	0	0	0	1	0	30	58				
ZNF217	7764	broad.mit.edu	37	20	52198661	52198661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198661G>A	ENST00000371471.2	-	2	1130	c.705C>T	c.(703-705)cgC>cgT	p.R235R	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Silent_p.R235R			O75362	ZN217_HUMAN	zinc finger protein 217	235					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGTGCACCTTGCGGTGCTCAA	0.517																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(703-705)cgC>cgT		zinc finger protein 217							97.0	100.0	99.0					20																	52198661		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198661G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.705C>T	20.37:g.52198661G>A						ZNF217_ENST00000302342.3_Silent_p.R235R	p.R235R			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1130	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		235					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.705C>T	CCDS13443.1																																																																																				0.517	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		31	69	0	0	0	1	0	31	69				
FKBPL	63943	broad.mit.edu	37	6	32097545	32097545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32097545G>A	ENST00000375156.3	-	2	283	c.13C>T	c.(13-15)Cca>Tca	p.P5S	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	5					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GTATTGACTGGTGGCGTCTCC	0.473																																						ENST00000375156.3																			0											c.(13-15)Cca>Tca		FK506 binding protein like							26.0	30.0	28.0					6																	32097545		2194	4288	6482	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097545G>A	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.13C>T	6.37:g.32097545G>A	ENSP00000364298:p.Pro5Ser						p.P5S	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	283	-			5					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.13C>T	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622510	0.28889	.	.	ENSG00000204315	ENST00000375156	T	0.80653	-1.4	5.06	0.0408	0.14211	.	1.802100	0.03159	N	0.169047	T	0.49218	0.1544	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.36359	-0.9751	10	0.54805	T	0.06	1.236	3.184	0.06594	0.2293:0.1208:0.5282:0.1217	.	5	Q9UIM3	FKBPL_HUMAN	S	5	ENSP00000364298:P5S	ENSP00000364298:P5S	P	-	1	0	FKBPL	32205523	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.204000	0.09425	-0.170000	0.10816	-1.943000	0.00494	CCA		0.473	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			11	15	0	0	0	1	0	11	15				
SUSD2	56241	broad.mit.edu	37	22	24582270	24582270	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24582270A>G	ENST00000358321.3	+	10	1790	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	510	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCCGTCCAGGAGGGCAACTCA	0.652																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1528-1530)gAg>gGg		sushi domain containing 2							96.0	76.0	83.0					22																	24582270		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582270A>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1529A>G	22.37:g.24582270A>G	ENSP00000351075:p.Glu510Gly						p.E510G	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			10	1790	+			510			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1529A>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388297	0.61956	.	.	ENSG00000099994	ENST00000358321	T	0.58358	0.34	5.05	5.05	0.67936	von Willebrand factor, type D domain (3);	0.114632	0.56097	D	0.000023	T	0.63640	0.2528	L	0.50847	1.595	0.48696	D	0.999698	D	0.89917	1.0	D	0.91635	0.999	T	0.58544	-0.7618	10	0.17369	T	0.5	-28.62	13.1045	0.59239	1.0:0.0:0.0:0.0	.	510	Q9UGT4	SUSD2_HUMAN	G	510	ENSP00000351075:E510G	ENSP00000351075:E510G	E	+	2	0	SUSD2	22912270	1.000000	0.71417	0.997000	0.53966	0.441000	0.31987	6.646000	0.74348	2.060000	0.61445	0.454000	0.30748	GAG		0.652	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		8	22	0	0	0	1	0	8	22				
MFAP2	4237	broad.mit.edu	37	1	17303034	17303034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303034C>T	ENST00000375535.3	-	6	537	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MFAP2_ENST00000438542.1_Missense_Mutation_p.G82E|MFAP2_ENST00000375534.3_Missense_Mutation_p.G82E|MFAP2_ENST00000490075.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	83					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCTGCATTTCCTGGTTCTGG	0.607																																						ENST00000375535.3																			0				kidney(1)|lung(1)	2						c.(247-249)gGa>gAa		microfibrillar-associated protein 2							89.0	85.0	86.0					1																	17303034		2203	4300	6503	SO:0001583	missense	4237					microfibril		g.chr1:17303034C>T	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.248G>A	1.37:g.17303034C>T	ENSP00000364685:p.Gly83Glu					MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.G82E|MFAP2_ENST00000375534.3_Missense_Mutation_p.G82E	p.G83E			P55001	MFAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	6	537	-		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	83					Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	c.248G>A	CCDS174.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322206	0.23994	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	3.73	1.82	0.25136	.	0.554792	0.16703	N	0.203053	T	0.26048	0.0635	N	0.16478	0.41	0.30861	N	0.733522	B;B	0.33413	0.411;0.411	B;B	0.40165	0.321;0.239	T	0.21042	-1.0257	9	0.25751	T	0.34	-20.38	5.0635	0.14570	0.0:0.7317:0.0:0.2683	.	82;83	Q5JXY0;P55001	.;MFAP2_HUMAN	E	83;82;82	.	ENSP00000364684:G82E	G	-	2	0	MFAP2	17175621	0.301000	0.24444	0.074000	0.20217	0.210000	0.24377	0.469000	0.22067	0.874000	0.35823	0.561000	0.74099	GGA		0.607	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		19	37	0	0	0	1	0	19	37				
SAR1A	56681	broad.mit.edu	37	10	71913627	71913627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71913627C>A	ENST00000373242.2	-	7	643	c.447G>T	c.(445-447)gaG>gaT	p.E149D	SAR1A_ENST00000458634.2_Missense_Mutation_p.E106D|SAR1A_ENST00000431664.2_Missense_Mutation_p.E149D|SAR1A_ENST00000373238.1_Missense_Mutation_p.E149D|SAR1A_ENST00000373241.4_Missense_Mutation_p.E149D	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	149					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCCCAAATATCTCACGGAGTT	0.348																																						ENST00000373238.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(445-447)gaG>gaT		SAR1 homolog A (S. cerevisiae)							230.0	236.0	234.0					10																	71913627		2203	4300	6503	SO:0001583	missense	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71913627C>A		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.447G>T	10.37:g.71913627C>A	ENSP00000362339:p.Glu149Asp					SAR1A_ENST00000373242.1_Missense_Mutation_p.E149D|SAR1A_ENST00000373241.4_Missense_Mutation_p.E149D|SAR1A_ENST00000431664.2_Missense_Mutation_p.E149D|SAR1A_ENST00000458634.2_Missense_Mutation_p.E106D	p.E149D			Q9NR31	SAR1A_HUMAN			6	804	-			149					B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	c.447G>T	CCDS7298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.77|13.77	2.335953|2.335953	0.41398|0.41398	.|.	.|.	ENSG00000079332|ENSG00000079332	ENST00000452767|ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000395026	.|D;D;D;D;D	.|0.82081	.|-1.57;-1.57;-1.57;-1.57;-1.57	5.38|5.38	2.46|2.46	0.29980|0.29980	.|.	.|0.051693	.|0.85682	.|D	.|0.000000	T|T	0.68550|0.68550	0.3013|0.3013	N|N	0.26162|0.26162	0.8|0.8	0.44635|0.44635	D|D	0.99761|0.99761	.|B	.|0.19935	.|0.04	.|B	.|0.18263	.|0.021	T|T	0.56511|0.56511	-0.7967|-0.7967	5|10	.|0.21014	.|T	.|0.42	.|.	7.7511|7.7511	0.28898|0.28898	0.0:0.6575:0.0:0.3425|0.0:0.6575:0.0:0.3425	.|.	.|149	.|Q9NR31	.|SAR1A_HUMAN	Y|D	66|149;149;149;149;149;106;68	.|ENSP00000362338:E149D;ENSP00000362335:E149D;ENSP00000362339:E149D;ENSP00000399698:E149D;ENSP00000437979:E106D	.|ENSP00000362335:E149D	D|E	-|-	1|3	0|2	SAR1A|SAR1A	71583633|71583633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	1.533000|1.533000	0.36040|0.36040	0.627000|0.627000	0.30340|0.30340	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.348	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			18	223	1	0	1.67942e-08	1	2.01326e-08	18	223				
CAMK1G	57172	broad.mit.edu	37	1	209778919	209778919	+	Missense_Mutation	SNP	G	G	A	rs144255822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209778919G>A	ENST00000009105.1	+	5	580	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R112Q			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ATCCTGGAGCGGGGTGTCTAC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20000	0.0		0.0	False		,,,				2504	0.0				Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(334-336)cGg>cAg		calcium/calmodulin-dependent protein kinase IG		G	GLN/ARG	0,4406		0,0,2203	141.0	132.0	135.0		335	5.3	1.0	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	CAMK1G	NM_020439.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	112/477	209778919	2,13004	2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209778919G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.335G>A	1.37:g.209778919G>A	ENSP00000009105:p.Arg112Gln					CAMK1G_ENST00000361322.2_Missense_Mutation_p.R112Q	p.R112Q			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	5	580	+			112			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.335G>A	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494046	0.64186	0.0	2.33E-4	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.65178	-0.14;-0.14;-0.14	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000128	T	0.47414	0.1444	N	0.16130	0.375	0.80722	D	1	D;D	0.54207	0.957;0.965	B;B	0.41299	0.171;0.353	T	0.45977	-0.9224	10	0.25106	T	0.35	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	112;112	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	Q	112	ENSP00000009105:R112Q;ENSP00000392173:R112Q;ENSP00000354861:R112Q	ENSP00000009105:R112Q	R	+	2	0	CAMK1G	207845542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.956000	0.63645	2.664000	0.90586	0.655000	0.94253	CGG		0.493	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		8	109	0	0	0	1	0	8	109				
PRMT7	54496	broad.mit.edu	37	16	68379675	68379675	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68379675A>G	ENST00000339507.5	+	10	1855	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	PRMT7_ENST00000441236.1_Missense_Mutation_p.Y292C|PRMT7_ENST00000449359.3_Missense_Mutation_p.Y292C|PRMT7_ENST00000348497.4_Missense_Mutation_p.Y268C			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	342	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CACGATGACTACTGCGTATGG	0.567																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(1024-1026)tAc>tGc		protein arginine methyltransferase 7							108.0	101.0	103.0					16																	68379675		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68379675A>G	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1025A>G	16.37:g.68379675A>G	ENSP00000343103:p.Tyr342Cys					PRMT7_ENST00000441236.1_Missense_Mutation_p.Y292C|PRMT7_ENST00000449359.3_Missense_Mutation_p.Y292C|PRMT7_ENST00000348497.4_Missense_Mutation_p.Y268C	p.Y342C			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	10	1855	+		Ovarian(137;0.192)	342					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1025A>G	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720209	0.89205	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.997;1.0	T	0.61826	-0.6983	10	0.51188	T	0.08	-31.9595	14.1352	0.65284	1.0:0.0:0.0:0.0	.	292;268;342;342	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	C	292;292;268;342	ENSP00000414716:Y292C;ENSP00000409324:Y292C;ENSP00000345775:Y268C;ENSP00000343103:Y342C	ENSP00000343103:Y342C	Y	+	2	0	PRMT7	66937176	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.432000	0.80349	2.218000	0.71995	0.533000	0.62120	TAC		0.567	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		5	115	0	0	0	1	0	5	115				
NOL6	65083	broad.mit.edu	37	9	33467152	33467152	+	Missense_Mutation	SNP	G	G	A	rs184298169	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33467152G>A	ENST00000379471.2	-	14	1921	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	NOL6_ENST00000455041.2_Missense_Mutation_p.R560C|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	612					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGAATAAGGCGCTTCTGGGAC	0.607											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	4	0.000798722	0.0	0.0014	5008	,	,		17924	0.0		0.0	False		,,,				2504	0.0031					ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1834-1836)Cgc>Tgc		nucleolar protein 6 (RNA-associated)		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	84.0	82.0		1834,1834	5.8	1.0	9		82	0,8600		0,0,4300	yes	missense,missense	NOL6	NM_022917.4,NM_139235.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	612/1147,612/700	33467152	1,13005	2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467152G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1834C>T	9.37:g.33467152G>A	ENSP00000368784:p.Arg612Cys		OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R560C	p.R612C			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	14	1921	-			612					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1834C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.1	4.598150	0.87055	2.27E-4	0.0	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.925;1.0	T	0.61926	-0.6962	10	0.39692	T	0.17	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	560;609;612;612;612	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	C	612;612;612;168;612;560	ENSP00000313978:R612C;ENSP00000297990:R612C;ENSP00000368784:R612C;ENSP00000395915:R560C	ENSP00000297990:R612C	R	-	1	0	NOL6	33457152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.937000	0.56575	2.755000	0.94549	0.655000	0.94253	CGC		0.607	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		16	24	0	0	0	1	0	16	24				
NRG1	3084	broad.mit.edu	37	8	32453412	32453412	+	Missense_Mutation	SNP	G	G	A	rs369794181		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32453412G>A	ENST00000405005.3	+	2	167	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NRG1_ENST00000520407.1_Missense_Mutation_p.R271Q|NRG1_ENST00000287842.3_Missense_Mutation_p.R56Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R35Q|NRG1_ENST00000341377.5_Missense_Mutation_p.R56Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R56Q|NRG1_ENST00000356819.4_Missense_Mutation_p.R56Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R56Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R56Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R56Q			Q02297	NRG1_HUMAN	neuregulin 1	56	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTAGTCCTTCGGTGTGAAACC	0.398																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(166-168)cGg>cAg		neuregulin 1							117.0	130.0	125.0					8																	32453412		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32453412G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.167G>A	8.37:g.32453412G>A	ENSP00000384620:p.Arg56Gln					NRG1_ENST00000287840.5_Missense_Mutation_p.R56Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R35Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R56Q|NRG1_ENST00000520407.1_Missense_Mutation_p.R271Q|NRG1_ENST00000405005.2_Missense_Mutation_p.R56Q|NRG1_ENST00000287842.3_Missense_Mutation_p.R56Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R56Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R56Q|NRG1_ENST00000356819.4_Missense_Mutation_p.R56Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R56Q	p.R56Q			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	2	684	+		Breast(100;0.203)	56			Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.167G>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349123	0.95830	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.609210	0.16798	N	0.199115	T	0.69441	0.3111	N	0.20845	0.615	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D	0.89917	0.99;0.984;0.976;0.995;0.999;0.995;0.939;0.987;0.971;0.99;1.0;0.997	P;P;P;P;D;P;P;P;P;P;D;P	0.83275	0.758;0.667;0.821;0.84;0.994;0.859;0.509;0.776;0.667;0.864;0.996;0.637	T	0.71427	-0.4596	10	0.59425	D	0.04	.	18.2624	0.90041	0.0:0.0:1.0:0.0	.	56;56;56;55;55;56;56;56;56;56;56;271	E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8;Q02297-9	.;.;.;.;.;.;.;NRG1_HUMAN;.;.;.;.	Q	35;35;271;124;56;56;56;56;56;56;56;56;56	ENSP00000430053:R35Q;ENSP00000429582:R35Q;ENSP00000434640:R271Q;ENSP00000429067:R124Q;ENSP00000430120:R56Q;ENSP00000343395:R56Q;ENSP00000349275:R56Q;ENSP00000287840:R56Q;ENSP00000287845:R56Q;ENSP00000340497:R56Q;ENSP00000287842:R56Q;ENSP00000384620:R56Q;ENSP00000428828:R56Q	ENSP00000287840:R56Q	R	+	2	0	NRG1	32572954	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.684000	0.61686	2.826000	0.97356	0.563000	0.77884	CGG		0.398	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			56	78	0	0	0	1	0	56	78				
BRD1	23774	broad.mit.edu	37	22	50192750	50192750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50192750C>A	ENST00000216267.8	-	3	2028	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	BRD1_ENST00000404034.1_Missense_Mutation_p.E514D|BRD1_ENST00000542442.1_Missense_Mutation_p.E207D|BRD1_ENST00000404760.1_Missense_Mutation_p.E514D|BRD1_ENST00000342989.5_Missense_Mutation_p.E109D|BRD1_ENST00000457780.2_Missense_Mutation_p.E514D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	514					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGCCTTCATCTCCTCATCAT	0.572																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1540-1542)gaG>gaT		bromodomain containing 1							83.0	77.0	79.0					22																	50192750		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50192750C>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1542G>T	22.37:g.50192750C>A	ENSP00000216267:p.Glu514Asp					BRD1_ENST00000542442.1_Missense_Mutation_p.E207D|BRD1_ENST00000342989.5_Missense_Mutation_p.E109D|BRD1_ENST00000457780.2_Missense_Mutation_p.E514D|BRD1_ENST00000404034.1_Missense_Mutation_p.E514D|BRD1_ENST00000404760.1_Missense_Mutation_p.E514D	p.E514D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	3	2028	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	514					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1542G>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961339	0.34565	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	T;T;T;T;T;T	0.42900	2.52;2.52;2.51;2.34;0.96;0.96	3.95	0.0515	0.14298	.	0.051785	0.85682	D	0.000000	T	0.27241	0.0668	L	0.42245	1.32	0.48395	D	0.999648	B;B;B;B	0.27679	0.086;0.185;0.166;0.14	B;B;B;B	0.25614	0.028;0.032;0.026;0.062	T	0.03807	-1.1002	10	0.23891	T	0.37	.	5.9554	0.19271	0.0:0.3117:0.0:0.6883	.	514;109;514;514	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	D	514;514;514;514;207;109	ENSP00000216267:E514D;ENSP00000384076:E514D;ENSP00000385858:E514D;ENSP00000410042:E514D;ENSP00000437514:E207D;ENSP00000345886:E109D	ENSP00000216267:E514D	E	-	3	2	BRD1	48578754	0.210000	0.23517	0.997000	0.53966	0.829000	0.46940	0.426000	0.21363	0.282000	0.22254	-0.136000	0.14681	GAG		0.572	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		4	42	1	0	0.00024832	1	0.0002712	4	42				
SCN5A	6331	broad.mit.edu	37	3	38662422	38662422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38662422T>C	ENST00000333535.4	-	5	672	c.523A>G	c.(523-525)Aag>Gag	p.K175E	SCN5A_ENST00000425664.1_Missense_Mutation_p.K175E|SCN5A_ENST00000450102.2_Missense_Mutation_p.K175E|SCN5A_ENST00000451551.2_Missense_Mutation_p.K175E|SCN5A_ENST00000413689.1_Missense_Mutation_p.K175E|SCN5A_ENST00000423572.2_Missense_Mutation_p.K175E|SCN5A_ENST00000414099.2_Missense_Mutation_p.K175E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K175E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K175E|SCN5A_ENST00000449557.2_Missense_Mutation_p.K175E			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	175					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCAGAATCTTGACCAGAGAC	0.552																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(523-525)Aag>Gag		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						66.0	73.0	71.0					3																	38662422		1951	4152	6103	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38662422T>C	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.523A>G	3.37:g.38662422T>C	ENSP00000328968:p.Lys175Glu					SCN5A_ENST00000451551.2_Missense_Mutation_p.K175E|SCN5A_ENST00000450102.2_Missense_Mutation_p.K175E|SCN5A_ENST00000449557.2_Missense_Mutation_p.K175E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K175E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K175E|SCN5A_ENST00000333535.4_Missense_Mutation_p.K175E|SCN5A_ENST00000414099.2_Missense_Mutation_p.K175E|SCN5A_ENST00000425664.1_Missense_Mutation_p.K175E|SCN5A_ENST00000423572.2_Missense_Mutation_p.K175E	p.K175E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	5	716	-	Medulloblastoma(35;0.163)		175					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.523A>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785714	0.90282	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.99080	-5.4;-5.4;-5.4;-5.4;-5.4;-5.4;-5.4;-5.4;-5.4;-5.4	4.13	4.13	0.48395	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.99299	4.505	0.50632	D	0.999887	D;D;D;D;D;P	0.76494	0.997;0.999;0.997;0.983;0.999;0.949	D;D;D;P;D;P	0.85130	0.994;0.995;0.994;0.866;0.997;0.57	D	0.97437	1.0019	10	0.87932	D	0	.	13.5859	0.61931	0.0:0.0:0.0:1.0	.	175;175;175;175;175;175	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	E	175	ENSP00000398962:K175E;ENSP00000398266:K175E;ENSP00000410257:K175E;ENSP00000388797:K175E;ENSP00000397915:K175E;ENSP00000416634:K175E;ENSP00000328968:K175E;ENSP00000399524:K175E;ENSP00000403355:K175E;ENSP00000413996:K175E	ENSP00000328968:K175E	K	-	1	0	SCN5A	38637426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.822000	0.86651	1.869000	0.54173	0.459000	0.35465	AAG		0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	28	0	0	0	1	0	3	28				
OSBP2	23762	broad.mit.edu	37	22	31289153	31289153	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31289153G>A	ENST00000332585.6	+	9	2018	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K	OSBP2_ENST00000403222.3_Silent_p.K472K|OSBP2_ENST00000535268.1_Silent_p.K182K|OSBP2_ENST00000382310.3_Silent_p.K589K|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000401475.1_Silent_p.K271K|OSBP2_ENST00000437268.2_Silent_p.K380K|OSBP2_ENST00000446658.2_Silent_p.K637K|OSBP2_ENST00000407373.1_Silent_p.K465K	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	638					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTTCTCCAAGCATGGCTGGA	0.597																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1912-1914)aaG>aaA		oxysterol binding protein 2							39.0	44.0	42.0					22																	31289153		2062	4204	6266	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31289153G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1914G>A	22.37:g.31289153G>A						OSBP2_ENST00000382310.3_Silent_p.K589K|OSBP2_ENST00000403222.3_Silent_p.K472K|OSBP2_ENST00000446658.2_Silent_p.K637K|OSBP2_ENST00000407373.1_Silent_p.K465K|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000401475.1_Silent_p.K271K|OSBP2_ENST00000535268.1_Silent_p.K182K|OSBP2_ENST00000437268.2_Silent_p.K380K	p.K638K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			9	2018	+			638					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.1914G>A	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	9.512	1.106050	0.20632	.	.	ENSG00000184792	ENST00000431368	.	.	.	4.66	1.44	0.22558	.	.	.	.	.	T	0.56426	0.1984	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51100	-0.8748	4	.	.	.	.	8.819	0.35014	0.317:0.0:0.683:0.0	.	.	.	.	N	310	.	.	S	+	2	0	OSBP2	29619153	0.997000	0.39634	0.982000	0.44146	0.975000	0.68041	2.286000	0.43496	0.686000	0.31488	-0.142000	0.14014	AGC		0.597	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		9	21	0	0	0	1	0	9	21				
ZFYVE1	53349	broad.mit.edu	37	14	73441590	73441590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73441590A>G	ENST00000556143.1	-	10	2604	c.1884T>C	c.(1882-1884)tgT>tgC	p.C628C	ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000318876.5_Silent_p.C614C|ZFYVE1_ENST00000553891.1_Silent_p.C628C|ZFYVE1_ENST00000555072.1_Silent_p.C213C|ZFYVE1_ENST00000394207.2_Silent_p.C213C	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	628					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AACAGCTGTCACAGAAGCCCT	0.567																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1882-1884)tgT>tgC		zinc finger, FYVE domain containing 1							94.0	91.0	92.0					14																	73441590		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73441590A>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1884T>C	14.37:g.73441590A>G						ZFYVE1_ENST00000394207.2_Silent_p.C213C|ZFYVE1_ENST00000318876.5_Silent_p.C614C|ZFYVE1_ENST00000555072.1_Silent_p.C213C|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.C628C	p.C628C	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	10	2604	-		all_lung(585;1.33e-09)	628					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1884T>C	CCDS9811.1																																																																																				0.567	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		17	35	0	0	0	1	0	17	35				
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A	rs541728237		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	NXF1_ENST00000533048.1_5'Flank|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582																																						ENST00000333449.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(643-645)cGc>cAc		transmembrane protein 179B							72.0	66.0	68.0					11																	62557503		2201	4299	6500	SO:0001583	missense	374395					integral to membrane		g.chr11:62557503G>A	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.644G>A	11.37:g.62557503G>A	ENSP00000333697:p.Arg215His					TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	p.R215H	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN			5	649	+			215						Missense_Mutation	SNP	ENST00000333449.4	37	c.644G>A	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011836	0.35511	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	0.137	0.14787	.	0.584731	0.18530	N	0.138524	T	0.26011	0.0634	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.12604	-1.0541	9	0.38643	T	0.18	.	5.2072	0.15297	0.3189:0.1704:0.5107:0.0	.	215	Q7Z7N9	T179B_HUMAN	H	215	.	ENSP00000333697:R215H	R	+	2	0	TMEM179B	62314079	0.000000	0.05858	0.003000	0.11579	0.841000	0.47740	-0.382000	0.07408	-0.216000	0.10048	0.561000	0.74099	CGC		0.582	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		27	21	0	0	0	1	0	27	21				
CUL9	23113	broad.mit.edu	37	6	43172550	43172550	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43172550C>T	ENST00000252050.4	+	22	4488	c.4404C>T	c.(4402-4404)agC>agT	p.S1468S	CUL9_ENST00000354495.3_Silent_p.S1358S|CUL9_ENST00000372647.2_Silent_p.S1468S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1468					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCAGCAGCCTGAGGAACA	0.592																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4402-4404)agC>agT		cullin 9							83.0	87.0	86.0					6																	43172550		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172550C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4404C>T	6.37:g.43172550C>T						CUL9_ENST00000372647.2_Silent_p.S1468S|CUL9_ENST00000354495.3_Silent_p.S1358S	p.S1468S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			22	4488	+			1468					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.4404C>T	CCDS4890.1																																																																																				0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		45	85	0	0	0	1	0	45	85				
AP3D1	8943	broad.mit.edu	37	19	2130455	2130455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2130455G>A	ENST00000345016.5	-	6	775	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.R182C|AP3D1_ENST00000590683.1_5'Flank	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	182					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCAGGGCGCAGCGACTCG	0.607																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(544-546)Cgc>Tgc		adaptor-related protein complex 3, delta 1 subunit							111.0	127.0	122.0					19																	2130455		2089	4203	6292	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2130455G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.544C>T	19.37:g.2130455G>A	ENSP00000344055:p.Arg182Cys					AP3D1_ENST00000345016.5_Missense_Mutation_p.R182C|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron	p.R182C	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	750	-		Hepatocellular(1079;0.137)	182					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.544C>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842844	0.91197	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.29655	1.56;1.56	4.62	4.62	0.57501	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.942;0.998	T	0.79945	-0.1589	10	0.87932	D	0	-30.9544	16.4636	0.84071	0.0:0.0:1.0:0.0	.	182;182	O14617-5;O14617	.;AP3D1_HUMAN	C	182	ENSP00000344055:R182C;ENSP00000347416:R182C	ENSP00000341579:R182C	R	-	1	0	AP3D1	2081455	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.231000	0.95317	2.120000	0.65058	0.549000	0.68633	CGC		0.607	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			40	46	0	0	0	1	0	40	46				
OSBPL2	9885	broad.mit.edu	37	20	60859101	60859101	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60859101G>T	ENST00000313733.3	+	10	1074		c.e10-1		OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Splice_Site	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2						lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TTTAATTACAGCAAAAAGAAG	0.388																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.e10-1		oxysterol binding protein-like 2							81.0	78.0	79.0					20																	60859101		2203	4300	6503	SO:0001630	splice_region_variant	9885				lipid transport		lipid binding	g.chr20:60859101G>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.873-1G>T	20.37:g.60859101G>T						OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Splice_Site		NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		10	1074	+	Breast(26;7.76e-09)							A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Splice_Site	SNP	ENST00000313733.3	37		CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183637	0.38609	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6933	0.91592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL2	60292496	1.000000	0.71417	0.967000	0.41034	0.085000	0.17905	9.549000	0.98106	2.568000	0.86640	0.655000	0.94253	.		0.388	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835	Intron	30	40	1	0	8.16721e-17	1	1.05573e-16	30	40				
SMAD2	4087	broad.mit.edu	37	18	45396887	45396887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45396887C>A	ENST00000402690.2	-	3	679	c.285G>T	c.(283-285)caG>caT	p.Q95H	SMAD2_ENST00000591214.1_Intron|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000356825.4_Intron|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q95H	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	95	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTGTATCCCACTGATCTATCG	0.408																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(283-285)caG>caT		SMAD family member 2							225.0	202.0	210.0					18																	45396887		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45396887C>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.285G>T	18.37:g.45396887C>A	ENSP00000384449:p.Gln95His					SMAD2_ENST00000356825.4_Intron|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q95H|SMAD2_ENST00000591214.1_Intron	p.Q95H	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			3	679	-			95			MH1.			Missense_Mutation	SNP	ENST00000402690.2	37	c.285G>T	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845579	0.71603	.	.	ENSG00000175387	ENST00000262160;ENST00000402690	D;D	0.94184	-3.37;-3.37	5.87	5.87	0.94306	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.94417	0.8204	L	0.29908	0.895	0.80722	D	1	P	0.43826	0.818	P	0.58928	0.848	D	0.94094	0.7356	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	95	Q15796	SMAD2_HUMAN	H	95	ENSP00000262160:Q95H;ENSP00000384449:Q95H	ENSP00000262160:Q95H	Q	-	3	2	SMAD2	43650885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.421000	0.80204	2.941000	0.99782	0.655000	0.94253	CAG		0.408	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		12	144	1	0	0.00136819	1	0.00146042	12	144				
PTPN14	5784	broad.mit.edu	37	1	214546151	214546151	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214546151A>G	ENST00000366956.5	-	16	3133	c.2939T>C	c.(2938-2940)aTa>aCa	p.I980T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	980	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGGGTGGCTATGTAGTGCCA	0.542																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2938-2940)aTa>aCa		protein tyrosine phosphatase, non-receptor type 14							76.0	71.0	73.0					1																	214546151		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214546151A>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2939T>C	1.37:g.214546151A>G	ENSP00000355923:p.Ile980Thr					PTPN14_ENST00000543945.1_3'UTR	p.I980T	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	16	3133	-			980			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2939T>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594847	0.86953	.	.	ENSG00000152104	ENST00000366956	T	0.37235	1.21	5.4	5.4	0.78164	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.048558	0.85682	D	0.000000	T	0.68860	0.3047	H	0.98507	4.25	0.80722	D	1	B	0.29590	0.25	B	0.43916	0.436	T	0.76852	-0.2806	10	0.87932	D	0	.	15.716	0.77670	1.0:0.0:0.0:0.0	.	980	Q15678	PTN14_HUMAN	T	980	ENSP00000355923:I980T	ENSP00000355923:I980T	I	-	2	0	PTPN14	212612774	1.000000	0.71417	0.905000	0.35620	0.990000	0.78478	9.097000	0.94193	2.167000	0.68274	0.528000	0.53228	ATA		0.542	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		22	42	0	0	0	1	0	22	42				
SETD3	84193	broad.mit.edu	37	14	99879293	99879293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99879293C>T	ENST00000331768.5	-	8	1003	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	SETD3_ENST00000436070.2_Missense_Mutation_p.G282S|SETD3_ENST00000329331.3_Missense_Mutation_p.G282S	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	282	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GTTACCAGGCCGTTGGTGTGG	0.517																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(844-846)Ggc>Agc		SET domain containing 3							141.0	124.0	129.0					14																	99879293		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99879293C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.844G>A	14.37:g.99879293C>T	ENSP00000327436:p.Gly282Ser					SETD3_ENST00000436070.2_Missense_Mutation_p.G282S|SETD3_ENST00000329331.3_Missense_Mutation_p.G282S	p.G282S	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			8	1003	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	282			SET.		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.844G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476930	0.96291	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.80480	-1.38;2.59;2.59	4.97	4.97	0.65823	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88165	0.2860	10	0.56958	D	0.05	-5.6654	17.6142	0.88064	0.0:1.0:0.0:0.0	.	282;282;282	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	S	282	ENSP00000327436:G282S;ENSP00000327910:G282S;ENSP00000408602:G282S	ENSP00000327910:G282S	G	-	1	0	SETD3	98949046	1.000000	0.71417	0.950000	0.38849	0.988000	0.76386	7.478000	0.81082	2.454000	0.82982	0.650000	0.86243	GGC		0.517	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		24	42	0	0	0	1	0	24	42				
CD163L1	283316	broad.mit.edu	37	12	7556246	7556246	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7556246A>G	ENST00000313599.3	-	6	1350	c.1293T>C	c.(1291-1293)atT>atC	p.I431I	CD163L1_ENST00000416109.2_Silent_p.I441I|CD163L1_ENST00000396630.1_Silent_p.I431I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	431	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTTATCCAAATGTCTCTAG	0.463																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1291-1293)atT>atC		CD163 molecule-like 1							161.0	149.0	153.0					12																	7556246		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7556246A>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1293T>C	12.37:g.7556246A>G						CD163L1_ENST00000416109.2_Silent_p.I441I|CD163L1_ENST00000396630.1_Silent_p.I431I	p.I431I			Q9NR16	C163B_HUMAN			6	1350	-			431			SRCR 4.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1293T>C	CCDS8577.1																																																																																				0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		9	107	0	0	0	1	0	9	107				
APLP1	333	broad.mit.edu	37	19	36362885	36362885	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36362885A>G	ENST00000221891.4	+	6	989	c.797A>G	c.(796-798)gAa>gGa	p.E266G	APLP1_ENST00000537454.2_Missense_Mutation_p.E227G|APLP1_ENST00000586861.1_Missense_Mutation_p.E260G|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	266	Poly-Glu.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGAAGAGGAAGAGGAAACG	0.597																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(796-798)gAa>gGa		amyloid beta (A4) precursor-like protein 1							115.0	119.0	117.0					19																	36362885		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362885A>G	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.797A>G	19.37:g.36362885A>G	ENSP00000221891:p.Glu266Gly					APLP1_ENST00000537454.2_Missense_Mutation_p.E227G|APLP1_ENST00000586861.1_Missense_Mutation_p.E260G	p.E266G	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	989	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		266			Poly-Glu.		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.797A>G	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.647912	0.67358	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94758	-3.41;-3.51	4.27	3.25	0.37280	.	0.400023	0.21492	N	0.073672	D	0.92011	0.7469	N	0.19112	0.55	0.37117	D	0.900639	D;D;D;D	0.67145	0.99;0.974;0.996;0.99	P;P;P;P	0.61477	0.868;0.736;0.889;0.815	D	0.89195	0.3553	10	0.33141	T	0.24	-10.0119	6.1588	0.20352	0.8792:0.0:0.1208:0.0	.	260;227;266;266	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	G	227;266	ENSP00000441501:E227G;ENSP00000221891:E266G	ENSP00000221891:E266G	E	+	2	0	APLP1	41054725	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.465000	0.53064	0.531000	0.28639	0.379000	0.24179	GAA		0.597	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		10	144	0	0	0	1	0	10	144				
NAAA	27163	broad.mit.edu	37	4	76842225	76842225	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76842225T>G	ENST00000286733.4	-	6	819	c.718A>C	c.(718-720)Act>Cct	p.T240P	NAAA_ENST00000399497.3_Missense_Mutation_p.T240P|NAAA_ENST00000507956.1_Missense_Mutation_p.T240P|NAAA_ENST00000511606.1_5'Flank|NAAA_ENST00000505594.1_Missense_Mutation_p.T139P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	240				T -> S (in Ref. 4; AAA60119). {ECO:0000305}.	lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						ATAAGGGGAGTCTTGGCCAAC	0.547																																						ENST00000286733.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(718-720)Act>Cct		N-acylethanolamine acid amidase							69.0	69.0	69.0					4																	76842225		1996	4166	6162	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76842225T>G	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.718A>C	4.37:g.76842225T>G	ENSP00000286733:p.Thr240Pro					NAAA_ENST00000507956.1_Missense_Mutation_p.T240P|NAAA_ENST00000399497.3_Missense_Mutation_p.T240P|NAAA_ENST00000505594.1_Missense_Mutation_p.T139P	p.T240P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			6	819	-			240	T -> S (in Ref. 4; AAA60119).				Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.718A>C	CCDS43239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.58|17.58	3.424862|3.424862	0.62733|0.62733	.|.	.|.	ENSG00000138744|ENSG00000138744	ENST00000513045|ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594	.|T;T;T;T	.|0.79940	.|-1.32;-1.32;-1.32;-1.32	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.217001	.|0.46145	.|D	.|0.000317	D|D	0.86707|0.86707	0.5997|0.5997	M|M	0.68952|0.68952	2.095|2.095	0.48762|0.48762	D|D	0.999702|0.999702	.|D;D	.|0.69078	.|0.993;0.997	.|D;P	.|0.63381	.|0.914;0.876	D|D	0.85677|0.85677	0.1298|0.1298	5|10	.|0.34782	.|T	.|0.22	-18.4892|-18.4892	14.0378|14.0378	0.64656|0.64656	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|139;240	.|B4DVL2;Q02083	.|.;NAAA_HUMAN	A|P	44|240;240;240;139	.|ENSP00000382420:T240P;ENSP00000286733:T240P;ENSP00000427641:T240P;ENSP00000426977:T139P	.|ENSP00000286733:T240P	D|T	-|-	2|1	0|0	NAAA|NAAA	77061249|77061249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.035000|0.035000	0.12851|0.12851	3.593000|3.593000	0.54001|0.54001	2.210000|2.210000	0.71456|0.71456	0.459000|0.459000	0.35465|0.35465	GAC|ACT		0.547	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			4	30	0	0	0	1	0	4	30				
BTN2A3P	54718	broad.mit.edu	37	6	26431066	26431066	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26431066G>T	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CCTCCAGGGAGAGCATTCCGG	0.527																																						ENST00000466808.2																			0																				109.0	106.0	107.0					6																	26431066		2203	4300	6503			0							g.chr6:26431066G>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431066G>T														0	1447	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.527	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		23	42	1	0	9.95505e-16	1	1.27953e-15	23	42				
FER1L6	654463	broad.mit.edu	37	8	124992896	124992896	+	Missense_Mutation	SNP	C	C	A	rs576479024	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124992896C>A	ENST00000522917.1	+	11	1461	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	FER1L6_ENST00000399018.1_Missense_Mutation_p.L419M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	419						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCAAGGCCCTGAAGGAGCT	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1255-1257)Ctg>Atg		fer-1-like 6 (C. elegans)							91.0	93.0	92.0					8																	124992896		1863	4103	5966	SO:0001583	missense	654463					integral to membrane		g.chr8:124992896C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1255C>A	8.37:g.124992896C>A	ENSP00000428280:p.Leu419Met		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.L419M	p.L419M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1461	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		419						Missense_Mutation	SNP	ENST00000522917.1	37	c.1255C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442746	0.25987	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81821	-1.54;-1.54	5.53	3.74	0.42951	.	8.019700	0.01979	U	0.044623	T	0.75170	0.3813	L	0.47716	1.5	0.21841	N	0.999511	B	0.30406	0.278	B	0.24394	0.053	T	0.57814	-0.7746	10	0.40728	T	0.16	.	5.7832	0.18318	0.2515:0.5895:0.0:0.159	.	419	Q2WGJ9	FR1L6_HUMAN	M	419	ENSP00000428280:L419M;ENSP00000381982:L419M	ENSP00000381982:L419M	L	+	1	2	FER1L6	125062077	0.050000	0.20438	0.827000	0.32855	0.999000	0.98932	0.411000	0.21115	0.709000	0.31976	0.655000	0.94253	CTG		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		6	74	1	0	0.00116845	1	0.00124821	6	74				
CCDC40	55036	broad.mit.edu	37	17	78023713	78023713	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023713G>T	ENST00000397545.4	+	6	891	c.864G>T	c.(862-864)atG>atT	p.M288I	CCDC40_ENST00000269318.5_Missense_Mutation_p.M288I|CCDC40_ENST00000374876.4_Missense_Mutation_p.M288I|CCDC40_ENST00000374877.3_Missense_Mutation_p.M288I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	288					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCCCCTGATGGTAAGATTCC	0.567																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(862-864)atG>atT		coiled-coil domain containing 40							82.0	89.0	86.0					17																	78023713		1969	4158	6127	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78023713G>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.864G>T	17.37:g.78023713G>T	ENSP00000380679:p.Met288Ile					CCDC40_ENST00000374876.4_Missense_Mutation_p.M288I|CCDC40_ENST00000374877.3_Missense_Mutation_p.M288I|CCDC40_ENST00000269318.5_Missense_Mutation_p.M288I	p.M288I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		6	891	+	all_neural(118;0.167)		288					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.864G>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902632	0.33628	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.59224	0.28;2.0;0.4;0.3	5.15	4.18	0.49190	.	.	.	.	.	T	0.74749	0.3757	M	0.79926	2.475	0.41206	D	0.986407	D;P;P	0.64830	0.994;0.9;0.887	D;B;P	0.65773	0.938;0.334;0.616	T	0.79057	-0.1959	9	0.72032	D	0.01	-55.0336	13.5363	0.61648	0.0754:0.0:0.9246:0.0	.	288;288;71	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	I	288	ENSP00000364011:M288I;ENSP00000269318:M288I;ENSP00000364010:M288I;ENSP00000380679:M288I	ENSP00000269318:M288I	M	+	3	0	CCDC40	75638308	1.000000	0.71417	0.655000	0.29622	0.098000	0.18820	6.776000	0.75023	1.162000	0.42619	0.655000	0.94253	ATG		0.567	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		3	25	1	0	0.004672	1	0.0049138	3	25				
ADAMTS10	81794	broad.mit.edu	37	19	8651767	8651767	+	Silent	SNP	G	G	A	rs370076512		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651767G>A	ENST00000597188.1	-	19	2442	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V	ADAMTS10_ENST00000595838.1_Silent_p.V211V|ADAMTS10_ENST00000270328.4_Silent_p.V724V	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	724	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAATCCAGACGACATCCTCGT	0.572											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2170-2172)gtC>gtT		ADAM metallopeptidase with thrombospondin type 1 motif, 10		G		0,4406		0,0,2203	152.0	128.0	136.0		2172	2.6	1.0	19		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS10	NM_030957.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		724/1104	8651767	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651767G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2172C>T	19.37:g.8651767G>A			OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_ENST00000597188.1_Silent_p.V724V|ADAMTS10_ENST00000595838.1_Silent_p.V211V	p.V724V			Q9H324	ATS10_HUMAN			18	2438	-			724			Spacer.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.2172C>T	CCDS12206.1																																																																																				0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		25	37	0	0	0	1	0	25	37				
NOD1	10392	broad.mit.edu	37	7	30491398	30491398	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30491398C>A	ENST00000222823.4	-	6	2160	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	545					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCATCCACTCCTGGAAGAACC	0.627																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1633-1635)caG>caT		nucleotide-binding oligomerization domain containing 1							58.0	67.0	64.0					7																	30491398		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491398C>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1635G>T	7.37:g.30491398C>A	ENSP00000222823:p.Gln545His						p.Q545H	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	2160	-			545					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1635G>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	3.387	-0.125169	0.06795	.	.	ENSG00000106100	ENST00000222823	T	0.70749	-0.51	5.52	2.2	0.27929	.	0.960850	0.08657	N	0.913053	T	0.59142	0.2172	L	0.43152	1.355	0.50467	D	0.999875	B	0.06786	0.001	B	0.04013	0.001	T	0.51803	-0.8659	10	0.34782	T	0.22	.	4.4297	0.11522	0.1331:0.2771:0.4896:0.1002	.	545	Q9Y239	NOD1_HUMAN	H	545	ENSP00000222823:Q545H	ENSP00000222823:Q545H	Q	-	3	2	NOD1	30457923	0.016000	0.18221	0.980000	0.43619	0.454000	0.32378	-0.571000	0.05889	0.514000	0.28300	0.655000	0.94253	CAG		0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			13	129	1	0	1.61879e-10	1	1.99744e-10	13	129				
COL1A2	1278	broad.mit.edu	37	7	94054475	94054475	+	Missense_Mutation	SNP	G	G	T	rs74315140|rs121912900		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94054475G>T	ENST00000297268.6	+	42	3191	c.2720G>T	c.(2719-2721)gGt>gTt	p.G907V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	907					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCCCGTGGTCCTCCTGGT	0.522										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2719-2721)gGt>gTt		collagen, type I, alpha 2	Collagenase(DB00048)						138.0	131.0	134.0					7																	94054475		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054475G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2720G>T	7.37:g.94054475G>T	ENSP00000297268:p.Gly907Val	HNSCC(75;0.22)					p.G907V	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		42	3191	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		907					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2720G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175561	0.78564	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97101	0.9797	10	0.87932	D	0	.	19.7567	0.96296	0.0:0.0:1.0:0.0	.	907	P08123	CO1A2_HUMAN	V	907;908	ENSP00000297268:G907V	ENSP00000297268:G907V	G	+	2	0	COL1A2	93892411	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.750000	0.98875	2.765000	0.95021	0.591000	0.81541	GGT		0.522	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		16	55	1	0	7.07596e-05	1	7.86387e-05	16	55				
ADAMTSL1	92949	broad.mit.edu	37	9	18680457	18680457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18680457C>T	ENST00000380548.4	+	11	1623	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	ADAMTSL1_ENST00000276935.6_Silent_p.I428I|ADAMTSL1_ENST00000380566.4_Silent_p.I411I|ADAMTSL1_ENST00000327883.7_Silent_p.I428I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	428						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGATGCCCATCGCGCAGCCCT	0.527																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1282-1284)atC>atT		ADAMTS-like 1							152.0	144.0	147.0					9																	18680457		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18680457C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1284C>T	9.37:g.18680457C>T						ADAMTSL1_ENST00000276935.6_Silent_p.I428I|ADAMTSL1_ENST00000327883.7_Silent_p.I428I|ADAMTSL1_ENST00000380566.4_Silent_p.I411I	p.I428I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	11	1623	+			428					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.1284C>T	CCDS47954.1																																																																																				0.527	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			4	73	0	0	0	1	0	4	73				
OCRL	4952	broad.mit.edu	37	X	128724232	128724232	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128724232G>T	ENST00000371113.4	+	24	2856	c.2691G>T	c.(2689-2691)ggG>ggT	p.G897G	OCRL_ENST00000357121.5_Silent_p.G889G	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	897	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCTGCTTGGGAGCGAAGAAG	0.478																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2689-2691)ggG>ggT		oculocerebrorenal syndrome of Lowe							188.0	185.0	186.0					X																	128724232		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128724232G>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2691G>T	X.37:g.128724232G>T						OCRL_ENST00000357121.5_Silent_p.G889G	p.G897G	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			24	2856	+			897			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2691G>T	CCDS35393.1																																																																																				0.478	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		7	266	1	0	0.0293803	1	0.0301098	7	266				
NRP2	8828	broad.mit.edu	37	2	206614470	206614470	+	Missense_Mutation	SNP	C	C	T	rs372509246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206614470C>T	ENST00000357785.5	+	11	1839	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	NRP2_ENST00000272849.3_Missense_Mutation_p.T603M|NRP2_ENST00000360409.3_Missense_Mutation_p.T603M|NRP2_ENST00000540178.1_Missense_Mutation_p.T603M|NRP2_ENST00000540841.1_Missense_Mutation_p.T603M|NRP2_ENST00000357118.4_Missense_Mutation_p.T603M|NRP2_ENST00000412873.2_Missense_Mutation_p.T603M			Q99435	NELL2_HUMAN	neuropilin 2	296	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T603M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACGGTAGAGACGCTGGGACCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20299	0.0		0.0	False		,,,				2504	0.0					ENST00000360409.3																			1	Substitution - Missense(1)	p.T603M(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1807-1809)aCg>aTg		neuropilin 2		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	98.0	95.0	96.0		1808,1808,1808,1808,1808	5.1	1.0	2		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NRP2	NM_003872.2,NM_018534.3,NM_201266.1,NM_201267.1,NM_201279.1	81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	603/927,603/907,603/932,603/902,603/910	206614470	1,13005	2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206614470C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1808C>T	2.37:g.206614470C>T	ENSP00000350432:p.Thr603Met					NRP2_ENST00000357785.5_Missense_Mutation_p.T603M|NRP2_ENST00000272849.3_Missense_Mutation_p.T603M|NRP2_ENST00000357118.4_Missense_Mutation_p.T603M|NRP2_ENST00000540841.1_Missense_Mutation_p.T603M|NRP2_ENST00000412873.2_Missense_Mutation_p.T603M|NRP2_ENST00000540178.1_Missense_Mutation_p.T603M	p.T603M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			11	2599	+			603					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1808C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114296	0.77210	0.0	1.16E-4	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D	0.88431	-2.3;-2.31;-2.31;-2.37;-2.35;-2.37;-2.38	5.07	5.07	0.68467	.	0.146519	0.64402	D	0.000011	D	0.93271	0.7856	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.83275	0.939;0.959;0.996;0.967;0.967	D	0.93874	0.7165	10	0.87932	D	0	-11.4636	18.813	0.92065	0.0:1.0:0.0:0.0	.	603;603;603;603;603	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	M	603	ENSP00000353582:T603M;ENSP00000439658:T603M;ENSP00000439261:T603M;ENSP00000349632:T603M;ENSP00000350432:T603M;ENSP00000407626:T603M;ENSP00000272849:T603M	ENSP00000272849:T603M	T	+	2	0	NRP2	206322715	0.998000	0.40836	0.962000	0.40283	0.818000	0.46254	5.068000	0.64364	2.519000	0.84933	0.561000	0.74099	ACG		0.552	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			18	21	0	0	0	1	0	18	21				
FKBP4	2288	broad.mit.edu	37	12	2910319	2910319	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2910319T>C	ENST00000001008.4	+	9	1256	c.1069T>C	c.(1069-1071)Ttc>Ctc	p.F357L	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	357	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			GAAGGGCCTCTTCCGCCGGGG	0.567																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(1069-1071)Ttc>Ctc		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						59.0	64.0	62.0					12																	2910319		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2910319T>C	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1069T>C	12.37:g.2910319T>C	ENSP00000001008:p.Phe357Leu					RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	p.F357L	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		9	1256	+			357			Interaction with tubulin (By similarity).		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.1069T>C	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946414	0.73672	.	.	ENSG00000004478	ENST00000001008	T	0.58506	0.33	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.55103	1.725	0.80722	D	1	P	0.47302	0.893	P	0.49597	0.616	T	0.67248	-0.5718	10	0.72032	D	0.01	-19.6505	14.9117	0.70761	0.0:0.0:0.0:1.0	.	357	Q02790	FKBP4_HUMAN	L	357	ENSP00000001008:F357L	ENSP00000001008:F357L	F	+	1	0	FKBP4	2780580	1.000000	0.71417	0.992000	0.48379	0.077000	0.17291	7.625000	0.83145	2.117000	0.64856	0.459000	0.35465	TTC		0.567	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			8	64	0	0	0	1	0	8	64				
PASK	23178	broad.mit.edu	37	2	242075446	242075446	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242075446A>C	ENST00000405260.1	-	8	1844	c.1146T>G	c.(1144-1146)acT>acG	p.T382T	PASK_ENST00000234040.4_Silent_p.T382T|PASK_ENST00000358649.4_Silent_p.T382T|PASK_ENST00000544142.1_Silent_p.T196T|PASK_ENST00000539818.1_Silent_p.T166T|PASK_ENST00000403638.3_Silent_p.T382T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	382	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAATCAGGAAAGTGATATTCT	0.532																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1144-1146)acT>acG		PAS domain containing serine/threonine kinase							104.0	107.0	106.0					2																	242075446		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242075446A>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1146T>G	2.37:g.242075446A>C						PASK_ENST00000405260.1_Silent_p.T382T|PASK_ENST00000539818.1_Silent_p.T166T|PASK_ENST00000544142.1_Silent_p.T196T|PASK_ENST00000358649.4_Silent_p.T382T|PASK_ENST00000234040.4_Silent_p.T382T	p.T382T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	8	1237	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	382			PAS 2.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.1146T>G	CCDS2545.1																																																																																				0.532	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		48	66	0	0	0	1	0	48	66				
TCF20	6942	broad.mit.edu	37	22	42610042	42610042	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610042T>G	ENST00000359486.3	-	1	1406	c.1270A>C	c.(1270-1272)Atg>Ctg	p.M424L	TCF20_ENST00000335626.4_Missense_Mutation_p.M424L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGGGCATCATTGATGGGGTT	0.493																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1270-1272)Atg>Ctg		transcription factor 20 (AR1)							137.0	135.0	136.0					22																	42610042		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610042T>G	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1270A>C	22.37:g.42610042T>G	ENSP00000352463:p.Met424Leu					TCF20_ENST00000335626.4_Missense_Mutation_p.M424L	p.M424L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1406	-			424					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1270A>C	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784691	0.49997	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.32753	1.44;1.44	6.17	5.14	0.70334	.	0.066714	0.64402	D	0.000005	T	0.24851	0.0603	L	0.36672	1.1	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.002	T	0.03184	-1.1063	10	0.40728	T	0.16	-9.7433	10.7928	0.46443	0.0:0.0708:0.0:0.9292	.	424;424	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	L	424	ENSP00000352463:M424L;ENSP00000335561:M424L	ENSP00000335561:M424L	M	-	1	0	TCF20	40939986	0.998000	0.40836	0.942000	0.38095	0.978000	0.69477	3.042000	0.49815	1.160000	0.42584	0.533000	0.62120	ATG		0.493	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		10	79	0	0	0	1	0	10	79				
SHROOM4	57477	broad.mit.edu	37	X	50350483	50350483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50350483C>A	ENST00000289292.7	-	6	3942	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	SHROOM4_ENST00000376020.2_Missense_Mutation_p.R1220M|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1104M			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1220	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CAAGTGACCCCTTATTGGAGG	0.552																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3658-3660)aGg>aTg		shroom family member 4							87.0	76.0	80.0					X																	50350483		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350483C>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3659G>T	X.37:g.50350483C>A	ENSP00000289292:p.Arg1220Met					SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1104M|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1220M	p.R1220M	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3684	-	Ovarian(276;0.236)		1220			ASD2.		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.3659G>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	9.767	1.171634	0.21704	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.29655	1.56;1.56;1.56	4.51	3.62	0.41486	Apx/shroom, ASD2 (2);	0.840266	0.10809	N	0.631771	T	0.34513	0.0900	N	0.22421	0.69	0.09310	N	1	P	0.51791	0.948	P	0.57548	0.823	T	0.13548	-1.0505	10	0.46703	T	0.11	.	9.2439	0.37513	0.0:0.7858:0.2142:0.0	.	1220	Q9ULL8	SHRM4_HUMAN	M	1220;1220;1104	ENSP00000289292:R1220M;ENSP00000365188:R1220M;ENSP00000421450:R1104M	ENSP00000289292:R1220M	R	-	2	0	SHROOM4	50367223	0.006000	0.16342	0.007000	0.13788	0.724000	0.41520	0.944000	0.29043	1.204000	0.43247	0.513000	0.50165	AGG		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		17	32	1	0	2.35188e-11	1	2.93101e-11	17	32				
ABCD1	215	broad.mit.edu	37	X	153005567	153005567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005567C>T	ENST00000218104.3	+	6	1909	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	504	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCATCTGCTCATCACAGG	0.652																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1510-1512)Ctc>Ttc		ATP-binding cassette, sub-family D (ALD), member 1							108.0	91.0	97.0					X																	153005567		2203	4300	6503	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153005567C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1510C>T	X.37:g.153005567C>T	ENSP00000218104:p.Leu504Phe					U52111.14_ENST00000434284.1_RNA	p.L504F	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			6	1909	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		504			ABC transporter.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1510C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587774	0.46110	.	.	ENSG00000101986	ENST00000218104	D	0.99855	-7.2	4.83	4.83	0.62350	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000003	D	0.99775	0.9907	M	0.77712	2.385	0.80722	D	1	D	0.54964	0.969	P	0.61003	0.882	D	0.96689	0.9509	10	0.59425	D	0.04	-27.616	14.2234	0.65843	0.0:1.0:0.0:0.0	.	504	P33897	ABCD1_HUMAN	F	504	ENSP00000218104:L504F	ENSP00000218104:L504F	L	+	1	0	ABCD1	152658761	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	1.344000	0.33941	2.229000	0.72834	0.429000	0.28392	CTC		0.652	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		38	48	0	0	0	1	0	38	48				
MIR205HG	642587	broad.mit.edu	37	1	209605507	209605507	+	lincRNA	SNP	C	C	A	rs533396228	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209605507C>A	ENST00000384891.1	+	0	30					NR_029622.1				MIR205 host gene (non-protein coding)																		ATGTGCTTCTCTTGTCCTTCA	0.527																																						ENST00000384891.1																			0																				166.0	121.0	136.0					1																	209605507		2203	4300	6503			0							g.chr1:209605507C>A			1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605507C>A								NR_029622.1						0	30	+									RNA	SNP	ENST00000384891.1	37																																																																																						0.527	MIR205HG-202	KNOWN	basic	miRNA	lincRNA				4	53	1	0	0.00909568	1	0.00947522	4	53				
ARAP2	116984	broad.mit.edu	37	4	36093627	36093627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36093627C>A	ENST00000303965.4	-	28	4790	c.4301G>T	c.(4300-4302)gGa>gTa	p.G1434V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1434	PH 5. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTGATGCTTCCCAGTGTACT	0.328																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(4300-4302)gGa>gTa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							165.0	165.0	165.0					4																	36093627		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36093627C>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4301G>T	4.37:g.36093627C>A	ENSP00000302895:p.Gly1434Val						p.G1434V	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			28	4790	-			1434			PH 5.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.4301G>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	4.632	0.117520	0.08881	.	.	ENSG00000047365	ENST00000303965	T	0.29917	1.55	5.58	1.49	0.22878	Pleckstrin homology domain (1);	0.310345	0.29707	N	0.011420	T	0.19725	0.0474	L	0.46157	1.445	0.40449	D	0.980122	B	0.11235	0.004	B	0.06405	0.002	T	0.11717	-1.0576	10	0.33940	T	0.23	.	1.0156	0.01506	0.1486:0.1928:0.1538:0.5048	.	1434	Q8WZ64	ARAP2_HUMAN	V	1434	ENSP00000302895:G1434V	ENSP00000302895:G1434V	G	-	2	0	ARAP2	35770022	0.033000	0.19621	0.172000	0.22920	0.051000	0.14879	0.531000	0.23052	0.074000	0.16767	-0.345000	0.07892	GGA		0.328	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		6	142	1	0	0.00621372	1	0.00652201	6	142				
CCT5	22948	broad.mit.edu	37	5	10254886	10254886	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10254886G>A	ENST00000280326.4	+	3	687	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CCT5_ENST00000515390.1_Intron|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000503026.1_Silent_p.K68K|CCT5_ENST00000515676.1_Silent_p.K51K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	89					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGATTGCCAAGCTGATGGTGG	0.428																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(265-267)aaG>aaA		chaperonin containing TCP1, subunit 5 (epsilon)							157.0	134.0	142.0					5																	10254886		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10254886G>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.267G>A	5.37:g.10254886G>A						CCT5_ENST00000515676.1_Silent_p.K51K|CCT5_ENST00000503026.1_Silent_p.K68K|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron	p.K89K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			3	687	+			89					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.267G>A	CCDS3877.1																																																																																				0.428	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			40	59	0	0	0	1	0	40	59				
FGFR2	2263	broad.mit.edu	37	10	123325125	123325125	+	Missense_Mutation	SNP	G	G	T	rs537841180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123325125G>T	ENST00000358487.5	-	3	475	c.203C>A	c.(202-204)gCc>gAc	p.A68D	FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369056.1_Missense_Mutation_p.A68D|FGFR2_ENST00000351936.6_Missense_Mutation_p.A68D|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.A68D|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.A68D|FGFR2_ENST00000457416.2_Missense_Mutation_p.A68D|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.A68D|FGFR2_ENST00000359354.2_Missense_Mutation_p.A68D|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	68	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ACTGATCACGGCGGCATCTTT	0.552		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(202-204)gCc>gAc		fibroblast growth factor receptor 2	Palifermin(DB00039)						153.0	133.0	140.0					10																	123325125		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325125G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.203C>A	10.37:g.123325125G>T	ENSP00000351276:p.Ala68Asp					FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.A68D|FGFR2_ENST00000346997.2_Missense_Mutation_p.A68D|FGFR2_ENST00000369061.4_Missense_Mutation_p.A68D|FGFR2_ENST00000457416.2_Missense_Mutation_p.A68D|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.A68D|FGFR2_ENST00000359354.2_Missense_Mutation_p.A68D|FGFR2_ENST00000369056.1_Missense_Mutation_p.A68D|FGFR2_ENST00000356226.4_Intron	p.A68D	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	475	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	68			Ig-like C2-type 1.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.203C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	9.120	1.008660	0.19199	.	.	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000369060;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000369056;ENST00000369058;ENST00000359354	T;T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	5.13	3.98	0.46160	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.982258	0.08383	N	0.954187	T	0.13798	0.0334	L	0.32530	0.975	0.27351	N	0.956249	B;P;B;B;B;B;B;B	0.51449	0.0;0.945;0.002;0.0;0.0;0.0;0.001;0.0	B;P;B;B;B;B;B;B	0.47346	0.005;0.544;0.008;0.004;0.002;0.004;0.005;0.002	T	0.05683	-1.0870	10	0.23302	T	0.38	.	7.5463	0.27768	0.1824:0.0:0.8176:0.0	.	87;87;68;87;68;68;87;68	D3DRD9;D3DRD4;B5A960;D3DRD5;P21802-18;P21802;D3DRE0;P21802-17	.;.;.;.;.;FGFR2_HUMAN;.;.	D	68	ENSP00000358057:A68D;ENSP00000351276:A68D;ENSP00000358056:A68D;ENSP00000263451:A68D;ENSP00000410294:A68D;ENSP00000309878:A68D;ENSP00000358052:A68D;ENSP00000358054:A68D;ENSP00000352309:A68D	ENSP00000263451:A68D	A	-	2	0	FGFR2	123315115	0.973000	0.33851	0.749000	0.31150	0.951000	0.60555	1.802000	0.38853	2.529000	0.85273	0.643000	0.83706	GCC		0.552	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		4	86	1	0	0.014758	1	0.0152625	4	86				
CXADRP3	440224	broad.mit.edu	37	18	14478148	14478148	+	lincRNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:14478148G>T	ENST00000581457.1	-	0	1760					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		GGAAAGCACAGATGAGACGTA	0.408																																						ENST00000581457.1																			0																																																			0							g.chr18:14478148G>T			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478148G>T								NR_024076.1						0	1760	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.408	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		14	16	1	0	1.5739e-10	1	1.9432e-10	14	16				
OTUD5	55593	broad.mit.edu	37	X	48780953	48780953	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48780953C>A	ENST00000156084.4	-	8	1611	c.1551G>T	c.(1549-1551)ttG>ttT	p.L517F	OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000396743.3_Missense_Mutation_p.L512F|OTUD5_ENST00000376488.3_Missense_Mutation_p.L512F|OTUD5_ENST00000428668.2_Missense_Mutation_p.L295F	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	517					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCCGGCACTCCAAAGCAGGGT	0.602																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(1549-1551)ttG>ttT		OTU domain containing 5							32.0	32.0	32.0					X																	48780953		2201	4299	6500	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48780953C>A		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1551G>T	X.37:g.48780953C>A	ENSP00000156084:p.Leu517Phe					OTUD5_ENST00000428668.2_Missense_Mutation_p.L295F|OTUD5_ENST00000376488.3_Missense_Mutation_p.L512F|OTUD5_ENST00000396743.3_Missense_Mutation_p.L512F	p.L517F	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			8	1611	-			517					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1551G>T	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328055	0.60743	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.15	4.15	0.48705	.	0.000000	0.56097	D	0.000023	T	0.58807	0.2148	L	0.60455	1.87	0.58432	D	0.999995	P;D;D	0.76494	0.937;0.989;0.999	B;P;D	0.80764	0.403;0.648;0.994	T	0.56613	-0.7950	10	0.34782	T	0.22	-9.4258	15.2092	0.73206	0.0:1.0:0.0:0.0	.	295;517;512	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	F	512;488;390;517;512;295	ENSP00000379969:L512F;ENSP00000390767:L390F;ENSP00000156084:L517F;ENSP00000365671:L512F;ENSP00000401629:L295F	ENSP00000156084:L517F	L	-	3	2	OTUD5	48665897	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.446000	0.52928	2.331000	0.79229	0.529000	0.55759	TTG		0.602	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		4	11	1	0	0.00909568	1	0.00947522	4	11				
CELSR2	1952	broad.mit.edu	37	1	109795318	109795318	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795318G>A	ENST00000271332.3	+	1	2678	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	873	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCAGGCATCGTGCGAACGCT	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2617-2619)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 2							108.0	96.0	100.0					1																	109795318		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795318G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2617G>A	1.37:g.109795318G>A	ENSP00000271332:p.Val873Met						p.V873M	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2678	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	873			Cadherin 7.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2617G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	14.31	2.498485	0.44455	.	.	ENSG00000143126	ENST00000271332	T	0.55930	0.49	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64897	0.2640	M	0.82056	2.57	0.46131	D	0.998889	D	0.89917	1.0	D	0.79108	0.992	T	0.69187	-0.5211	9	0.87932	D	0	.	9.8906	0.41288	0.1593:0.0:0.8407:0.0	.	873	Q9HCU4	CELR2_HUMAN	M	873	ENSP00000271332:V873M	ENSP00000271332:V873M	V	+	1	0	CELSR2	109596841	0.991000	0.36638	0.994000	0.49952	0.579000	0.36224	2.089000	0.41672	2.557000	0.86248	0.456000	0.33151	GTG		0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		48	37	0	0	0	1	0	48	37				
KCTD11	147040	broad.mit.edu	37	17	7256633	7256633	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7256633C>T	ENST00000333751.3	+	1	1426	c.372C>T	c.(370-372)gcC>gcT	p.A124A	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	124					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCTTCCGAGCCAACCTTTTCT	0.602																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(370-372)gcC>gcT		potassium channel tetramerization domain containing 11							94.0	77.0	83.0					17																	7256633		2203	4300	6503	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256633C>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.372C>T	17.37:g.7256633C>T						RP11-542C16.1_ENST00000572417.1_RNA	p.A124A	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1426	+		Prostate(122;0.157)	124					B3KPE0	Silent	SNP	ENST00000333751.3	37	c.372C>T	CCDS32545.1																																																																																				0.602	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		38	41	0	0	0	1	0	38	41				
TGFBRAP1	9392	broad.mit.edu	37	2	105914978	105914978	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105914978C>A	ENST00000393359.2	-	3	1299	c.873G>T	c.(871-873)caG>caT	p.Q291H	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Q291H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	291	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTTCAAAGTCCTGTAGGATAT	0.423																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(871-873)caG>caT		transforming growth factor, beta receptor associated protein 1							112.0	108.0	109.0					2																	105914978		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105914978C>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.873G>T	2.37:g.105914978C>A	ENSP00000377027:p.Gln291His					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Q291H	p.Q291H			Q8WUH2	TGFA1_HUMAN			3	1299	-			291			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.873G>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520178	0.64747	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.43688	0.94;0.94	5.65	5.65	0.86999	Citron-like (1);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.63428	1.95	0.58432	D	0.999992	D	0.61697	0.99	P	0.58391	0.838	T	0.47262	-0.9131	10	0.25751	T	0.34	-30.2906	13.9575	0.64160	0.0:0.9278:0.0:0.0722	.	291	Q8WUH2	TGFA1_HUMAN	H	291	ENSP00000377027:Q291H;ENSP00000258449:Q291H	ENSP00000258449:Q291H	Q	-	3	2	TGFBRAP1	105281410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.885000	0.48570	2.655000	0.90218	0.655000	0.94253	CAG		0.423	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	88	1	0	0.000602214	1	0.000649039	4	88				
ST18	9705	broad.mit.edu	37	8	53076618	53076618	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53076618T>G	ENST00000276480.7	-	13	2011	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	443					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTGCCAATTTTTCAGCTGC	0.418																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1327-1329)aAa>aCa		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							110.0	112.0	111.0					8																	53076618		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53076618T>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1328A>C	8.37:g.53076618T>G	ENSP00000276480:p.Lys443Thr						p.K443T	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			13	2011	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	443					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1328A>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029853	0.75504	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.61742	0.08;0.27	5.92	4.75	0.60458	.	0.046732	0.85682	D	0.000000	T	0.72120	0.3421	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.74169	-0.3752	10	0.87932	D	0	-23.9878	12.3897	0.55352	0.1263:0.0:0.0:0.8737	.	443;443	E5RHS3;O60284	.;ST18_HUMAN	T	443	ENSP00000276480:K443T;ENSP00000428521:K443T	ENSP00000276480:K443T	K	-	2	0	ST18	53239171	1.000000	0.71417	0.815000	0.32552	0.754000	0.42855	7.552000	0.82192	1.032000	0.39892	0.533000	0.62120	AAA		0.418	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			33	58	0	0	0	1	0	33	58				
DNAH2	146754	broad.mit.edu	37	17	7691284	7691284	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7691284A>G	ENST00000572933.1	+	43	8170	c.6710A>G	c.(6709-6711)tAt>tGt	p.Y2237C	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y2237C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2237	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAAGCCCTATGTTCAGTCA	0.567																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6709-6711)tAt>tGt		dynein, axonemal, heavy chain 2							70.0	68.0	69.0					17																	7691284		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691284A>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6710A>G	17.37:g.7691284A>G	ENSP00000458355:p.Tyr2237Cys					DNAH2_ENST00000389173.2_Missense_Mutation_p.Y2237C	p.Y2237C			Q9P225	DYH2_HUMAN			43	8170	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2237			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6710A>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432262	0.62844	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.90900	-2.75	5.07	5.07	0.68467	.	0.227334	0.38548	N	0.001650	D	0.95379	0.8500	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	D	0.95959	0.8960	10	0.66056	D	0.02	.	13.9422	0.64062	1.0:0.0:0.0:0.0	.	2237	Q9P225	DYH2_HUMAN	C	2237	ENSP00000373825:Y2237C	ENSP00000353818:Y2237C	Y	+	2	0	DNAH2	7632009	0.996000	0.38824	0.995000	0.50966	0.992000	0.81027	3.332000	0.52083	2.127000	0.65507	0.459000	0.35465	TAT		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		3	41	0	0	0	1	0	3	41				
ATP8A2	51761	broad.mit.edu	37	13	26043137	26043137	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26043137C>T	ENST00000381655.2	+	2	241	c.99C>T	c.(97-99)ggC>ggT	p.G33G	ATP8A2_ENST00000255283.8_5'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTCTTTGGGCTATAAGAAGG	0.602																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(97-99)ggC>ggT		ATPase, aminophospholipid transporter, class I, type 8A, member 2							74.0	82.0	79.0					13																	26043137		2025	4183	6208	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26043137C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.99C>T	13.37:g.26043137C>T						ATP8A2_ENST00000255283.8_5'UTR	p.G33G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	2	241	+		Breast(139;0.0201)|Lung SC(185;0.0225)	0					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.99C>T	CCDS41873.1																																																																																				0.602	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		23	24	0	0	0	1	0	23	24				
VPS13D	55187	broad.mit.edu	37	1	12359362	12359362	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12359362T>C	ENST00000358136.3	+	25	6267	c.6137T>C	c.(6136-6138)gTa>gCa	p.V2046A	VPS13D_ENST00000356315.4_Missense_Mutation_p.V2046A	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATCTGATTGTAGCAAATTTG	0.433																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6136-6138)gTa>gCa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							108.0	104.0	105.0					1																	12359362		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12359362T>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6137T>C	1.37:g.12359362T>C	ENSP00000350854:p.Val2046Ala					VPS13D_ENST00000356315.4_Missense_Mutation_p.V2046A	p.V2046A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	25	6267	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2046						Missense_Mutation	SNP	ENST00000358136.3	37	c.6137T>C	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.1|28.1	4.891907|4.891907	0.91889|0.91889	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.58506|.	0.33;0.34|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77343|.	0.4116|.	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.77557|.	0.99;0.978|.	T|.	0.78648|.	-0.2122|.	10|.	0.46703|.	T|.	0.11|.	.|.	16.1024|16.1024	0.81184|0.81184	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2046;2046|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	A|Q	2046|869	ENSP00000348666:V2046A;ENSP00000350854:V2046A|.	ENSP00000348666:V2046A|.	V|X	+|+	2|1	0|0	VPS13D|VPS13D	12281949|12281949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.641000|7.641000	0.83368|0.83368	2.200000|2.200000	0.70718|0.70718	0.459000|0.459000	0.35465|0.35465	GTA|TAG		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		36	48	0	0	0	1	0	36	48				
UPP2	151531	broad.mit.edu	37	2	158971709	158971709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158971709G>T	ENST00000005756.4	+	3	471	c.277G>T	c.(277-279)Gac>Tac	p.D93Y	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.D150Y|UPP2_ENST00000605860.1_Missense_Mutation_p.D150Y	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	93					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	AGACATAAAAGACATCTGTGC	0.473																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(448-450)Gac>Tac		uridine phosphorylase 2							103.0	103.0	103.0					2																	158971709		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158971709G>T	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.277G>T	2.37:g.158971709G>T	ENSP00000005756:p.Asp93Tyr					UPP2_ENST00000005756.4_Missense_Mutation_p.D93Y|UPP2_ENST00000409859.4_Missense_Mutation_p.D150Y|UPP2_ENST00000460456.1_Intron	p.D150Y			O95045	UPP2_HUMAN			6	494	+			93					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.448G>T	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357003	0.61293	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.47869	0.83;0.83	5.7	2.93	0.34026	Nucleoside phosphorylase domain (1);	0.049170	0.85682	D	0.000000	T	0.64560	0.2609	M	0.76938	2.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63166	-0.6698	10	0.87932	D	0	.	7.3701	0.26796	0.1452:0.0:0.7178:0.137	.	93	O95045	UPP2_HUMAN	Y	150;93	ENSP00000387230:D150Y;ENSP00000005756:D93Y	ENSP00000005756:D93Y	D	+	1	0	UPP2	158679955	1.000000	0.71417	0.595000	0.28798	0.844000	0.47949	3.315000	0.51951	0.344000	0.23847	0.655000	0.94253	GAC		0.473	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		31	34	1	0	1.08312e-15	1	1.39118e-15	31	34				
ATP6V0C	527	broad.mit.edu	37	16	2569642	2569642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2569642G>A	ENST00000330398.4	+	3	598	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	AMDHD2_ENST00000413459.3_5'Flank|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A79T|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000568562.1_3'UTR|AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A79T|RP11-20I23.1_ENST00000564543.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	122					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCGGGGCACCGCCCAGCAGCC	0.672																																						ENST00000330398.4																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(364-366)Gcc>Acc		ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c							41.0	39.0	39.0					16																	2569642		2197	4300	6497	SO:0001583	missense	527				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding	g.chr16:2569642G>A	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.364G>A	16.37:g.2569642G>A	ENSP00000329757:p.Ala122Thr					ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A79T|ATP6V0C_ENST00000568562.1_3'UTR|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A79T|RP11-20I23.1_ENST00000564543.1_3'UTR	p.A122T	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN			3	598	+		Ovarian(90;0.17)	122					Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.364G>A	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771846	0.69992	.	.	ENSG00000185883	ENST00000330398	T	0.56611	0.45	5.08	4.12	0.48240	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	M	0.88310	2.945	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.78334	-0.2244	10	0.62326	D	0.03	-5.6579	11.7492	0.51839	0.0867:0.0:0.9133:0.0	.	122	P27449	VATL_HUMAN	T	122	ENSP00000329757:A122T	ENSP00000329757:A122T	A	+	1	0	ATP6V0C	2509643	1.000000	0.71417	0.998000	0.56505	0.099000	0.18886	7.910000	0.87451	2.383000	0.81215	0.485000	0.47835	GCC		0.672	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		16	23	0	0	0	1	0	16	23				
KDM1A	23028	broad.mit.edu	37	1	23381585	23381585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23381585G>T	ENST00000356634.3	+	5	903	c.754G>T	c.(754-756)Gtt>Ttt	p.V252F	MIR4419A_ENST00000583845.1_RNA|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.V272F|KDM1A_ENST00000542151.1_Missense_Mutation_p.V272F	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	252	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTCCACCGAGTTCACAGTTA	0.378																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(814-816)Gtt>Ttt		lysine (K)-specific demethylase 1A							219.0	215.0	216.0					1																	23381585		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23381585G>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.754G>T	1.37:g.23381585G>T	ENSP00000349049:p.Val252Phe					KDM1A_ENST00000542151.1_Missense_Mutation_p.V272F|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.V252F	p.V272F	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			6	918	+			252			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.814G>T	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549897	0.86127	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.35236	1.37;1.32;1.32	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.050000	0.85682	D	0.000000	T	0.50274	0.1606	L	0.61218	1.895	0.58432	D	0.999992	D;D	0.57899	0.981;0.972	P;P	0.57548	0.823;0.718	T	0.51387	-0.8712	10	0.72032	D	0.01	-26.0213	11.77	0.51953	0.0805:0.0:0.9195:0.0	.	272;252	O60341-2;O60341	.;KDM1A_HUMAN	F	252;272;272	ENSP00000349049:V252F;ENSP00000383042:V272F;ENSP00000439072:V272F	ENSP00000349049:V252F	V	+	1	0	KDM1A	23254172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.160000	0.64929	2.650000	0.89964	0.655000	0.94253	GTT		0.378	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		73	124	1	0	9.0989e-53	1	1.2309e-52	73	124				
ZCCHC11	23318	broad.mit.edu	37	1	52981602	52981602	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52981602T>G	ENST00000371544.3	-	3	1105	c.843A>C	c.(841-843)gaA>gaC	p.E281D	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E281D|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E281D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	281					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTAAGCGTTCTTCTGCTTGTT	0.378																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(841-843)gaA>gaC		zinc finger, CCHC domain containing 11							143.0	131.0	135.0					1																	52981602		2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52981602T>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.843A>C	1.37:g.52981602T>G	ENSP00000360599:p.Glu281Asp					ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E281D|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E281D|ZCCHC11_ENST00000371541.1_5'UTR	p.E281D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			3	1105	-			281					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.843A>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167587	0.78339	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.26	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.77103	2.36	0.35107	D	0.765803	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.991;0.987;0.999;0.998;0.978	T	0.71203	-0.4662	10	0.46703	T	0.11	.	9.6851	0.40094	0.0:0.1133:0.0:0.8867	.	40;281;281;281;281	E9PKX1;E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;.;TUT4_HUMAN	D	281;281;281;40;281	ENSP00000257177:E281D;ENSP00000360599:E281D;ENSP00000433486:E281D;ENSP00000435256:E40D	ENSP00000257177:E281D	E	-	3	2	ZCCHC11	52754190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.384000	0.44362	2.003000	0.58678	0.533000	0.62120	GAA		0.378	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		24	57	0	0	0	1	0	24	57				
SLC12A5	57468	broad.mit.edu	37	20	44674605	44674605	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44674605C>T	ENST00000454036.2	+	13	1776	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S553F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	576					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCATTGCATCCCTCGACGAG	0.592																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1726-1728)tCc>tTc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						164.0	139.0	148.0					20																	44674605		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44674605C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1727C>T	20.37:g.44674605C>T	ENSP00000387694:p.Ser576Phe					SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Missense_Mutation_p.S553F	p.S576F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			13	1803	+		Myeloproliferative disorder(115;0.0122)	576					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1727C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039865	0.55003	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98937	-5.25;-5.25	4.46	4.46	0.54185	Amino acid permease domain (1);	0.067767	0.64402	D	0.000011	D	0.98052	0.9358	M	0.72576	2.205	0.80722	D	1	B;B	0.30211	0.273;0.028	B;B	0.38562	0.276;0.079	D	0.99312	1.0904	10	0.59425	D	0.04	.	15.858	0.79000	0.0:1.0:0.0:0.0	.	576;553	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	F	576;553	ENSP00000387694:S576F;ENSP00000243964:S553F	ENSP00000243964:S553F	S	+	2	0	SLC12A5	44108012	1.000000	0.71417	0.991000	0.47740	0.313000	0.28021	7.645000	0.83430	2.317000	0.78254	0.563000	0.77884	TCC		0.592	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			35	76	0	0	0	1	0	35	76				
STARD13	90627	broad.mit.edu	37	13	33703428	33703428	+	Silent	SNP	G	G	A	rs35350154|rs539039932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33703428G>A	ENST00000336934.5	-	5	1502	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	STARD13_ENST00000399365.3_Silent_p.V344V|STARD13_ENST00000255486.4_Silent_p.V454V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	462					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGAGCCAGGGACATTGTCAT	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20749	0.0		0.0	False		,,,				2504	0.0					ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1384-1386)gtC>gtT		StAR-related lipid transfer (START) domain containing 13							74.0	72.0	73.0					13																	33703428		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703428G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1386C>T	13.37:g.33703428G>A						STARD13_ENST00000399365.3_Silent_p.V344V|STARD13_ENST00000255486.4_Silent_p.V454V	p.V462V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1502	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	462					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1386C>T	CCDS9348.1																																																																																				0.562	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		20	41	0	0	0	1	0	20	41				
ETV1	2115	broad.mit.edu	37	7	14027793	14027793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14027793C>T	ENST00000430479.1	-	4	718	c.51G>A	c.(49-51)caG>caA	p.Q17Q	ETV1_ENST00000399357.3_5'Flank|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000403527.1_5'Flank|ETV1_ENST00000343495.5_Silent_p.Q17Q|ETV1_ENST00000420159.2_5'Flank|ETV1_ENST00000405218.2_Silent_p.Q17Q|ETV1_ENST00000405358.4_Silent_p.Q31Q|ETV1_ENST00000405192.2_Silent_p.Q17Q|ETV1_ENST00000403685.1_Silent_p.Q17Q|ETV1_ENST00000242066.5_Silent_p.Q17Q	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	17					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCCACGCTGACTCTACA	0.418			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(49-51)caG>caA		ets variant 1							119.0	121.0	121.0					7																	14027793		2197	4297	6494	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:14027793C>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.51G>A	7.37:g.14027793C>T						ETV1_ENST00000405192.2_Silent_p.Q17Q|ETV1_ENST00000430479.1_Silent_p.Q17Q|ETV1_ENST00000405358.4_Silent_p.Q31Q|ETV1_ENST00000242066.5_Silent_p.Q17Q|ETV1_ENST00000405218.2_Silent_p.Q17Q|ETV1_ENST00000403685.1_Silent_p.Q17Q	p.Q17Q			P50549	ETV1_HUMAN			4	789	-			17					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.51G>A	CCDS55088.1																																																																																				0.418	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		32	43	0	0	0	1	0	32	43				
RIOK1	83732	broad.mit.edu	37	6	7411575	7411575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7411575G>A	ENST00000379834.2	+	14	1787	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	427	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTGTTTAAGCGAGCATATATT	0.383																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1279-1281)cGa>cAa		RIO kinase 1							135.0	140.0	138.0					6																	7411575		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7411575G>A	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1280G>A	6.37:g.7411575G>A	ENSP00000369162:p.Arg427Gln						p.R427Q	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			14	1787	+	Ovarian(93;0.0418)		427			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.1280G>A	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	1.017	-0.686065	0.03328	.	.	ENSG00000124784	ENST00000379834	T	0.04603	3.59	5.32	2.54	0.30619	.	0.219751	0.43579	N	0.000555	T	0.00328	0.0010	N	0.00496	-1.435	0.24714	N	0.993188	B	0.06786	0.001	B	0.06405	0.002	T	0.42649	-0.9439	10	0.02654	T	1	-3.1206	7.3641	0.26762	0.4565:0.0:0.5435:0.0	.	427	Q9BRS2	RIOK1_HUMAN	Q	427	ENSP00000369162:R427Q	ENSP00000369162:R427Q	R	+	2	0	RIOK1	7356574	1.000000	0.71417	0.992000	0.48379	0.506000	0.33950	1.946000	0.40283	0.317000	0.23160	-0.373000	0.07131	CGA		0.383	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		28	45	0	0	0	1	0	28	45				
SLCO2B1	11309	broad.mit.edu	37	11	74904424	74904424	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74904424A>G	ENST00000289575.5	+	9	1632	c.1237A>G	c.(1237-1239)Atc>Gtc	p.I413V	SLCO2B1_ENST00000531756.1_Missense_Mutation_p.I158V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I391V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I297V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.I186V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I269V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.I186V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	413					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CAACCTGCTCATCGGCTGCCT	0.627																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1237-1239)Atc>Gtc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						102.0	83.0	89.0					11																	74904424		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904424A>G	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1237A>G	11.37:g.74904424A>G	ENSP00000289575:p.Ile413Val					SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I297V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I269V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I391V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.I186V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.I186V|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.I158V	p.I413V	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1632	+			413					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1237A>G	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212245	0.58452	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.80480	0.35;-1.38;-1.38;-1.38;-1.38;-1.38;0.35	5.18	4.03	0.46877	Major facilitator superfamily domain, general substrate transporter (1);	0.057632	0.64402	D	0.000002	D	0.82586	0.5069	L	0.60904	1.88	0.34047	D	0.655714	P;P;P;P	0.50156	0.932;0.932;0.916;0.932	P;P;P;P	0.54965	0.765;0.765;0.654;0.765	D	0.84423	0.0572	10	0.31617	T	0.26	.	10.1506	0.42791	0.8244:0.1756:0.0:0.0	.	269;158;186;413	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	V	413;186;297;158;269;186;391	ENSP00000289575:I413V;ENSP00000341286:I186V;ENSP00000434112:I297V;ENSP00000432650:I158V;ENSP00000436324:I269V;ENSP00000389653:I186V;ENSP00000388912:I391V	ENSP00000289575:I413V	I	+	1	0	SLCO2B1	74582072	1.000000	0.71417	0.962000	0.40283	0.596000	0.36781	5.115000	0.64655	0.789000	0.33779	0.402000	0.26972	ATC		0.627	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		9	37	0	0	0	1	0	9	37				
BEND6	221336	broad.mit.edu	37	6	56846620	56846620	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56846620C>T	ENST00000370746.3	+	2	281	c.12C>T	c.(10-12)atC>atT	p.I4I	BEND6_ENST00000370748.3_Silent_p.I4I|BEND6_ENST00000370750.2_Silent_p.I4I|BEND6_ENST00000370745.1_Silent_p.I4I	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	4					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TGCAGAAGATCGTGCAGACAG	0.368																																						ENST00000370748.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(10-12)atC>atT		BEN domain containing 6							138.0	135.0	136.0					6																	56846620		1852	4086	5938	SO:0001819	synonymous_variant	221336							g.chr6:56846620C>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.12C>T	6.37:g.56846620C>T						BEND6_ENST00000370745.1_Silent_p.I4I|BEND6_ENST00000370746.3_Silent_p.I4I|BEND6_ENST00000370750.2_Silent_p.I4I	p.I4I			Q5SZJ8	BEND6_HUMAN			2	447	+			4					Q4G0W8|Q8N662|Q96NS6	Silent	SNP	ENST00000370746.3	37	c.12C>T	CCDS43476.1																																																																																				0.368	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		5	90	0	0	0	1	0	5	90				
H2AFY	9555	broad.mit.edu	37	5	134679121	134679121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134679121G>A	ENST00000511689.1	-	8	1375	c.782C>T	c.(781-783)gCt>gTt	p.A261V	CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.A135T|H2AFY_ENST00000312469.4_Missense_Mutation_p.A258V|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000304332.4_Missense_Mutation_p.A260V|H2AFY_ENST00000510038.1_Missense_Mutation_p.A261V|H2AFY_ENST00000423969.2_Missense_Mutation_p.A89V	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	261	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTGACAGCAGCTAGTGG	0.517																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(781-783)gCt>gTt		H2A histone family, member Y							72.0	70.0	71.0					5																	134679121		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134679121G>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.782C>T	5.37:g.134679121G>A	ENSP00000423563:p.Ala261Val					CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000423969.2_Missense_Mutation_p.A89V|H2AFY_ENST00000312469.4_Missense_Mutation_p.A258V|CTC-203F4.1_ENST00000432382.3_Missense_Mutation_p.A135T|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000510038.1_Missense_Mutation_p.A261V|H2AFY_ENST00000304332.4_Missense_Mutation_p.A260V	p.A261V	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	1375	-			261			Macro.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.782C>T	CCDS4185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.005994|2.005994	0.35415|0.35415	.|.	.|.	ENSG00000224186|ENSG00000113648	ENST00000432382|ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038	.|T;T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14;2.14	5.51|5.51	4.64|4.64	0.57946|0.57946	.|Appr-1-p processing (3);	0.371879|0.371879	0.30356|0.30356	N|N	0.009807|0.009807	T|T	0.10766|0.10766	0.0263|0.0263	N|N	0.05574|0.05574	-0.02|-0.02	0.53005|0.53005	D|D	0.999969|0.999969	.|P;B;B;B	.|0.48294	.|0.908;0.021;0.114;0.026	.|B;B;B;B	.|0.39840	.|0.311;0.013;0.013;0.023	T|T	0.12218|0.12218	-1.0556|-1.0556	7|10	0.87932|0.40728	D|T	0|0.16	.|.	10.991|10.991	0.47549|0.47549	0.1616:0.0:0.8384:0.0|0.1616:0.0:0.8384:0.0	.|.	.|89;260;258;261	.|B4DJC3;O75367-3;O75367-2;O75367	.|.;.;.;H2AY_HUMAN	T|V	135|261;260;258;89;261	.|ENSP00000423563:A261V;ENSP00000302572:A260V;ENSP00000310169:A258V;ENSP00000415121:A89V;ENSP00000424971:A261V	ENSP00000402151:A135T|ENSP00000302572:A260V	A|A	+|-	1|2	0|0	CTC-203F4.1|H2AFY	134707020|134707020	0.965000|0.965000	0.33210|0.33210	0.843000|0.843000	0.33291|0.33291	0.027000|0.027000	0.11550|0.11550	2.093000|2.093000	0.41710|0.41710	1.324000|1.324000	0.45282|0.45282	0.561000|0.561000	0.74099|0.74099	GCA|GCT		0.517	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		41	42	0	0	0	1	0	41	42				
PAN2	9924	broad.mit.edu	37	12	56715903	56715903	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56715903T>C	ENST00000425394.2	-	20	3135	c.2759A>G	c.(2758-2760)tAt>tGt	p.Y920C	PAN2_ENST00000548043.1_Missense_Mutation_p.Y920C|PAN2_ENST00000257931.5_Missense_Mutation_p.Y919C|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000440411.3_Missense_Mutation_p.Y916C	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TTTGACATAATAAAGGATTGC	0.398																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2758-2760)tAt>tGt		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							161.0	154.0	157.0					12																	56715903		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56715903T>C	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2759A>G	12.37:g.56715903T>C	ENSP00000401721:p.Tyr920Cys					PAN2_ENST00000548043.1_Missense_Mutation_p.Y920C|PAN2_ENST00000257931.5_Missense_Mutation_p.Y919C|PAN2_ENST00000440411.3_Missense_Mutation_p.Y916C	p.Y920C	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			20	3135	-			920						Missense_Mutation	SNP	ENST00000425394.2	37	c.2759A>G	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.820920	0.50633	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	5.26	5.26	0.73747	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.060760	0.64402	D	0.000002	T	0.11067	0.0270	M	0.66939	2.045	0.54753	D	0.99998	P;B;B	0.37061	0.58;0.095;0.444	B;B;B	0.40659	0.336;0.192;0.137	T	0.01175	-1.1428	10	0.66056	D	0.02	-13.021	9.8228	0.40894	0.1534:0.0:0.0:0.8466	.	919;916;920	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	C	920;916;919;920	ENSP00000401721:Y920C;ENSP00000388231:Y916C;ENSP00000257931:Y919C;ENSP00000449861:Y920C	ENSP00000257931:Y919C	Y	-	2	0	PAN2	55002170	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.520000	0.60524	2.127000	0.65507	0.374000	0.22700	TAT		0.398	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		56	84	0	0	0	1	0	56	84				
TMEM241	85019	broad.mit.edu	37	18	20950206	20950206	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20950206C>T	ENST00000383233.3	-	9	556	c.504G>A	c.(502-504)caG>caA	p.Q168Q	TMEM241_ENST00000450466.2_Silent_p.Q47Q|TMEM241_ENST00000542162.1_Intron	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	168						integral component of membrane (GO:0016021)											TCTGGGACTTCTGTAGAATTT	0.428																																						ENST00000383233.3																			0											c.(502-504)caG>caA		transmembrane protein 241							73.0	74.0	73.0					18																	20950206		2203	4300	6503	SO:0001819	synonymous_variant	85019					integral to membrane		g.chr18:20950206C>T	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.504G>A	18.37:g.20950206C>T						TMEM241_ENST00000542162.1_Intron|TMEM241_ENST00000450466.2_Silent_p.Q47Q	p.Q168Q	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN			9	556	-			168					I0J130|Q6ZTS7|Q6ZW41	Silent	SNP	ENST00000383233.3	37	c.504G>A	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	C	0.489	-0.876041	0.02550	.	.	ENSG00000134490	ENST00000497608	.	.	.	5.91	4.08	0.47627	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53648	-0.8409	4	.	.	.	-18.1099	7.0062	0.24838	0.0:0.6811:0.2226:0.0963	.	.	.	.	K	168	.	.	E	-	1	0	C18orf45	19204204	0.996000	0.38824	0.723000	0.30687	0.278000	0.26855	1.251000	0.32862	1.497000	0.48584	0.655000	0.94253	GAA		0.428	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933		10	21	0	0	0	1	0	10	21				
CUL2	8453	broad.mit.edu	37	10	35327937	35327937	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35327937A>C	ENST00000374748.1	-	10	1101	c.788T>G	c.(787-789)aTt>aGt	p.I263S	CUL2_ENST00000374746.1_Missense_Mutation_p.I263S|CUL2_ENST00000374751.3_Missense_Mutation_p.I263S|CUL2_ENST00000602371.1_Missense_Mutation_p.I206S|CUL2_ENST00000374742.1_Missense_Mutation_p.I263S|CUL2_ENST00000374749.3_Missense_Mutation_p.I263S|CUL2_ENST00000537177.1_Missense_Mutation_p.I282S			Q13617	CUL2_HUMAN	cullin 2	263					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACATTCATGAATCACCTTAGT	0.318																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(787-789)aTt>aGt		cullin 2							155.0	141.0	146.0					10																	35327937		2203	4295	6498	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35327937A>C	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.788T>G	10.37:g.35327937A>C	ENSP00000363880:p.Ile263Ser					CUL2_ENST00000374749.3_Missense_Mutation_p.I263S|CUL2_ENST00000602371.1_Missense_Mutation_p.I206S|CUL2_ENST00000537177.1_Missense_Mutation_p.I282S|CUL2_ENST00000374746.1_Missense_Mutation_p.I263S|CUL2_ENST00000374742.1_Missense_Mutation_p.I263S|CUL2_ENST00000374751.3_Missense_Mutation_p.I263S	p.I263S			Q13617	CUL2_HUMAN			10	1101	-			263					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.788T>G	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148489	0.37923	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	6.16	3.77	0.43336	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.043420	0.85682	N	0.000000	T	0.14527	0.0351	N	0.16166	0.38	0.80722	D	1	B;B;B	0.29232	0.238;0.074;0.091	B;B;B	0.25987	0.05;0.039;0.065	T	0.07829	-1.0752	10	0.12103	T	0.63	-22.7884	8.0217	0.30412	0.7661:0.115:0.1189:0.0	.	263;282;263	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	S	263;263;263;263;206;263;282	ENSP00000363883:I263S;ENSP00000363880:I263S;ENSP00000363878:I263S;ENSP00000363881:I263S;ENSP00000363874:I263S;ENSP00000444856:I282S	ENSP00000363874:I263S	I	-	2	0	CUL2	35367943	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.694000	0.54742	1.117000	0.41842	0.528000	0.53228	ATT		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		12	27	0	0	0	1	0	12	27				
UBE2L6	9246	broad.mit.edu	37	11	57322034	57322034	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57322034C>T	ENST00000287156.4	-	3	381	c.186G>A	c.(184-186)ccG>ccA	p.P62P	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	62					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						GAGGCTTGAACGGATACTCCG	0.537																																						ENST00000287156.4																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(184-186)ccG>ccA		ubiquitin-conjugating enzyme E2L 6							188.0	173.0	178.0					11																	57322034		2201	4296	6497	SO:0001819	synonymous_variant	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57322034C>T	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.186G>A	11.37:g.57322034C>T						UBE2L6_ENST00000340573.4_5'UTR	p.P62P	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN			3	381	-			62					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	c.186G>A	CCDS7960.1																																																																																				0.537	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		9	174	0	0	0	1	0	9	174				
TPD52L1	7164	broad.mit.edu	37	6	125574876	125574876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125574876C>A	ENST00000534000.1	+	5	696	c.400C>A	c.(400-402)Cat>Aat	p.H134N	TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000368388.2_Intron|TPD52L1_ENST00000532429.1_Missense_Mutation_p.H105N|TPD52L1_ENST00000527711.1_Intron|TPD52L1_ENST00000304877.13_Missense_Mutation_p.H139N|TPD52L1_ENST00000368402.5_Missense_Mutation_p.H134N|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000534199.1_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.H134N|HDDC2_ENST00000608456.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	134					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTCCATTCGCCATTCCATAAG	0.299																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(400-402)Cat>Aat		tumor protein D52-like 1							93.0	94.0	94.0					6																	125574876		2203	4300	6503	SO:0001583	missense	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125574876C>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.400C>A	6.37:g.125574876C>A	ENSP00000434142:p.His134Asn					TPD52L1_ENST00000532429.1_Missense_Mutation_p.H105N|TPD52L1_ENST00000527711.1_Intron|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000534199.1_Intron|TPD52L1_ENST00000368388.2_Intron|TPD52L1_ENST00000368402.5_Missense_Mutation_p.H134N|TPD52L1_ENST00000304877.13_Missense_Mutation_p.H139N|TPD52L1_ENST00000528193.1_Missense_Mutation_p.H134N|TPD52L1_ENST00000392482.2_Intron	p.H134N	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	5	696	+			134					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	c.400C>A	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752279	0.69533	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000368402;ENST00000528193;ENST00000532429;ENST00000392484	T;T;T;T;T	0.44482	1.48;2.05;2.05;2.05;0.92	5.35	5.35	0.76521	.	0.207904	0.42420	D	0.000708	T	0.48114	0.1482	L	0.43152	1.355	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.79108	0.969;0.992	T	0.19353	-1.0308	10	0.27785	T	0.31	-11.0573	18.1962	0.89822	0.0:1.0:0.0:0.0	.	134;134	Q16890-2;Q16890	.;TPD53_HUMAN	N	139;134;134;134;105;134	ENSP00000306285:H139N;ENSP00000434142:H134N;ENSP00000357387:H134N;ENSP00000434743:H134N;ENSP00000435447:H105N	ENSP00000306285:H139N	H	+	1	0	TPD52L1	125616575	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.674000	0.91012	0.655000	0.94253	CAT		0.299	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			23	45	1	0	0.000586117	1	0.000636007	23	45				
RMND5B	64777	broad.mit.edu	37	5	177574751	177574751	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:177574751A>G	ENST00000515098.1	+	11	1336	c.985A>G	c.(985-987)Aag>Gag	p.K329E	RMND5B_ENST00000542098.1_Missense_Mutation_p.K316E|RMND5B_ENST00000313386.4_Missense_Mutation_p.K329E			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	329										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAGGCATGAAGTGCTGGTA	0.572																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(985-987)Aag>Gag		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							161.0	145.0	151.0					5																	177574751		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177574751A>G	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.985A>G	5.37:g.177574751A>G	ENSP00000420875:p.Lys329Glu					RMND5B_ENST00000313386.4_Missense_Mutation_p.K329E|RMND5B_ENST00000542098.1_Missense_Mutation_p.K316E	p.K329E			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1336	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	329					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.985A>G	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	A	7.647	0.682189	0.14907	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	N	0.01257	-0.925	0.50171	D	0.999858	B;B;B	0.21071	0.051;0.041;0.01	B;B;B	0.24701	0.055;0.033;0.03	T	0.29882	-0.9997	9	0.05721	T	0.95	-35.2804	14.0667	0.64834	1.0:0.0:0.0:0.0	.	316;316;329	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	E	329;329;316	.	ENSP00000320623:K329E	K	+	1	0	RMND5B	177507357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.336000	0.79245	2.200000	0.70718	0.460000	0.39030	AAG		0.572	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		5	106	0	0	0	1	0	5	106				
TMPRSS9	360200	broad.mit.edu	37	19	2405420	2405420	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405420G>A	ENST00000332578.3	+	6	617	c.617G>A	c.(616-618)gGc>gAc	p.G206D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	206	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCGTGGGCGGCATGGAAGCA	0.642																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(616-618)gGc>gAc		transmembrane protease, serine 9							80.0	79.0	79.0					19																	2405420		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2405420G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.617G>A	19.37:g.2405420G>A	ENSP00000330264:p.Gly206Asp						p.G206D	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	617	+			206			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.617G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118780	0.56505	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.74632	-0.86	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.49305	D	0.000158	D	0.90349	0.6980	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93599	0.6928	10	0.87932	D	0	.	15.9549	0.79880	0.0:0.0:1.0:0.0	.	206;240	Q7Z410;E7EMP4	TMPS9_HUMAN;.	D	240;206	ENSP00000330264:G206D	ENSP00000330264:G206D	G	+	2	0	TMPRSS9	2356420	1.000000	0.71417	0.083000	0.20561	0.006000	0.05464	9.454000	0.97621	2.188000	0.69820	0.484000	0.47621	GGC		0.642	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		18	44	0	0	0	1	0	18	44				
ZNF142	7701	broad.mit.edu	37	2	219509500	219509500	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219509500T>C	ENST00000449707.1	-	8	2160	c.1739A>G	c.(1738-1740)tAc>tGc	p.Y580C	ZNF142_ENST00000411696.2_Missense_Mutation_p.Y580C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGTGCGGTAGTCACAGAG	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1738-1740)tAc>tGc		zinc finger protein 142							97.0	108.0	104.0					2																	219509500		2201	4297	6498	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219509500T>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1739A>G	2.37:g.219509500T>C	ENSP00000408643:p.Tyr580Cys					ZNF142_ENST00000449707.1_Missense_Mutation_p.Y580C	p.Y580C			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	2518	-		Renal(207;0.0474)	580					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.1739A>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356464	0.82243	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13901	2.55;2.55	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.89904	3.07	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.55811	-0.8082	10	0.66056	D	0.02	-49.0944	16.4237	0.83790	0.0:0.0:0.0:1.0	.	580;417	P52746;A8MWU9	ZN142_HUMAN;.	C	580	ENSP00000408643:Y580C;ENSP00000398798:Y580C	ENSP00000398798:Y580C	Y	-	2	0	ZNF142	219217744	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.005000	0.88553	2.279000	0.76181	0.533000	0.62120	TAC		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		18	44	0	0	0	1	0	18	44				
HIVEP2	3097	broad.mit.edu	37	6	143091681	143091681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143091681C>T	ENST00000367604.1	-	4	4834	c.4195G>A	c.(4195-4197)Gcg>Acg	p.A1399T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.A1399T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1399T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCCAAGCCCGCATGCTGCCCC	0.527																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4195-4197)Gcg>Acg		human immunodeficiency virus type I enhancer binding protein 2							60.0	61.0	61.0					6																	143091681		2043	4198	6241	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091681C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4195G>A	6.37:g.143091681C>T	ENSP00000356576:p.Ala1399Thr					HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1399T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1399T	p.A1399T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4937	-			1399					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4195G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	8.906	0.957505	0.18507	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02197	4.4;4.4;4.4	6.08	4.19	0.49359	.	0.313614	0.37437	N	0.002090	T	0.00580	0.0019	N	0.14661	0.345	0.26100	N	0.980834	B	0.06786	0.001	B	0.04013	0.001	T	0.48969	-0.8987	10	0.23302	T	0.38	-5.4366	10.899	0.47040	0.0:0.7983:0.131:0.0707	.	1399	P31629	ZEP2_HUMAN	T	1399	ENSP00000356576:A1399T;ENSP00000356575:A1399T;ENSP00000012134:A1399T	ENSP00000012134:A1399T	A	-	1	0	HIVEP2	143133374	0.880000	0.30214	0.369000	0.25952	0.980000	0.70556	0.986000	0.29590	1.557000	0.49525	0.655000	0.94253	GCG		0.527	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			14	28	0	0	0	1	0	14	28				
ATP13A2	23400	broad.mit.edu	37	1	17313646	17313646	+	Missense_Mutation	SNP	G	G	A	rs146559160		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17313646G>A	ENST00000326735.8	-	26	3011	c.2978C>T	c.(2977-2979)cCg>cTg	p.P993L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.P949L|ATP13A2_ENST00000452699.1_Missense_Mutation_p.P988L|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	993					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGCGCCCCCGGTGGCCGCAC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13183	0.0		0.001	False		,,,				2504	0.0					ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2962-2964)cCg>cTg		ATPase type 13A2		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4402		0,0,2201	41.0	38.0	39.0		2963,2846,2978	4.1	0.0	1	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	98,98,98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	988/1176,949/1159,993/1181	17313646	1,12999	2201	4299	6500	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17313646G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2978C>T	1.37:g.17313646G>A	ENSP00000327214:p.Pro993Leu					RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P949L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P993L	p.P988L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	26	3152	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	993					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2963C>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570385	0.45798	0.0	1.16E-4	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.23	5.12	4.14	0.48551	.	0.192722	0.44902	D	0.000413	D	0.87378	0.6162	L	0.39245	1.2	0.22787	N	0.998737	P;D;P	0.71674	0.891;0.998;0.747	B;P;B	0.59056	0.222;0.851;0.18	T	0.76506	-0.2934	10	0.07813	T	0.8	-21.1794	10.0542	0.42235	0.0:0.0:0.7992:0.2008	.	949;988;993	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	L	993;949;988;189	ENSP00000327214:P993L;ENSP00000341115:P949L;ENSP00000413307:P988L;ENSP00000423065:P189L	ENSP00000327214:P993L	P	-	2	0	ATP13A2	17186233	1.000000	0.71417	0.026000	0.17262	0.344000	0.29017	4.290000	0.59019	2.390000	0.81377	0.561000	0.74099	CCG		0.692	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		11	13	0	0	0	1	0	11	13				
BTBD17	388419	broad.mit.edu	37	17	72356130	72356130	+	Missense_Mutation	SNP	C	C	T	rs189934812	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72356130C>T	ENST00000375366.3	-	2	466	c.340G>A	c.(340-342)Gct>Act	p.A114T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	114	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						TCGAAGACAGCGGCGCAGTCC	0.637													C|||	3	0.000599042	0.0008	0.0	5008	,	,		18166	0.0		0.0	False		,,,				2504	0.002					ENST00000375366.3																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(340-342)Gct>Act		BTB (POZ) domain containing 17							49.0	45.0	46.0					17																	72356130		2203	4300	6503	SO:0001583	missense	388419					extracellular region		g.chr17:72356130C>T		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.340G>A	17.37:g.72356130C>T	ENSP00000364515:p.Ala114Thr						p.A114T	NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN			2	466	-			114			BTB.			Missense_Mutation	SNP	ENST00000375366.3	37	c.340G>A	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244064	0.79912	.	.	ENSG00000204347	ENST00000375366	T	0.66995	-0.24	4.95	3.96	0.45880	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.74665	0.3746	L	0.58101	1.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.69142	0.962	T	0.71052	-0.4704	10	0.25751	T	0.34	-15.6364	12.042	0.53458	0.0:0.9174:0.0:0.0826	.	114	A6NE02	BTBDH_HUMAN	T	114	ENSP00000364515:A114T	ENSP00000364515:A114T	A	-	1	0	BTBD17	69867725	0.991000	0.36638	0.151000	0.22473	0.762000	0.43233	2.978000	0.49305	2.300000	0.77407	0.556000	0.70494	GCT		0.637	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		24	29	0	0	0	1	0	24	29				
DHX36	170506	broad.mit.edu	37	3	154024015	154024015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154024015G>A	ENST00000496811.1	-	6	963	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	DHX36_ENST00000308361.6_Missense_Mutation_p.R295C|DHX36_ENST00000329463.5_Missense_Mutation_p.R295C|DHX36_ENST00000544526.1_Missense_Mutation_p.R295C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	295	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCTGGAGACGAATTTGATAT	0.348																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(883-885)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box polypeptide 36							95.0	98.0	97.0					3																	154024015		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154024015G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.883C>T	3.37:g.154024015G>A	ENSP00000417078:p.Arg295Cys					DHX36_ENST00000329463.5_Missense_Mutation_p.R295C|DHX36_ENST00000308361.6_Missense_Mutation_p.R295C|DHX36_ENST00000544526.1_Missense_Mutation_p.R295C	p.R295C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		6	963	-			295			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.883C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626671	0.87560	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03663	3.85;3.85;3.85;3.85;3.85	4.79	4.79	0.61399	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	H	0.99507	4.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.67440	-0.5670	10	0.87932	D	0	.	18.1809	0.89777	0.0:0.0:1.0:0.0	.	295;295;295	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	C	295;295;295;295;209	ENSP00000417078:R295C;ENSP00000309296:R295C;ENSP00000444247:R295C;ENSP00000330113:R295C;ENSP00000419862:R209C	ENSP00000309296:R295C	R	-	1	0	DHX36	155506709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.470000	0.66756	2.378000	0.81104	0.460000	0.39030	CGT		0.348	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		25	34	0	0	0	1	0	25	34				
SPATA5	166378	broad.mit.edu	37	4	123978366	123978366	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123978366C>A	ENST00000274008.4	+	13	2205	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	712					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCACCAGACCTTCCGAAAAG	0.388																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2134-2136)acC>acA		spermatogenesis associated 5							103.0	103.0	103.0					4																	123978366		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123978366C>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2136C>A	4.37:g.123978366C>A						SPATA5_ENST00000422835.2_3'UTR	p.T712T	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			13	2205	+			712					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.2136C>A	CCDS3730.1																																																																																				0.388	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		4	65	1	0	0.00909568	1	0.00947522	4	65				
IQUB	154865	broad.mit.edu	37	7	123143079	123143079	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123143079T>C	ENST00000466202.1	-	5	1362	c.786A>G	c.(784-786)ggA>ggG	p.G262G	IQUB_ENST00000434450.1_Silent_p.G262G|IQUB_ENST00000324698.6_Silent_p.G262G|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	262					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GATACTCTACTCCTGTTACTT	0.383																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(784-786)ggA>ggG		IQ motif and ubiquitin domain containing							114.0	114.0	114.0					7																	123143079		2202	4300	6502	SO:0001819	synonymous_variant	154865							g.chr7:123143079T>C	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.786A>G	7.37:g.123143079T>C						IQUB_ENST00000324698.6_Silent_p.G262G|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Silent_p.G262G	p.G262G			Q8NA54	IQUB_HUMAN			5	1362	-			262					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.786A>G	CCDS5787.1																																																																																				0.383	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		8	167	0	0	0	1	0	8	167				
DGKK	139189	broad.mit.edu	37	X	50125503	50125503	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50125503C>A	ENST00000376025.2	-	0	2707							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTGTATTGCCCTGGGTGTTC	0.408																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							247.0	207.0	220.0					X																	50125503		1907	4115	6022			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50125503C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50125503C>A										Q5KSL6	DGKK_HUMAN			0	2707	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.408	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	50	1	0	0.00116845	1	0.00124821	6	50				
MUC5B	727897	broad.mit.edu	37	11	1271361	1271361	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271361C>A	ENST00000529681.1	+	31	13309	c.13251C>A	c.(13249-13251)acC>acA	p.T4417T	MUC5B_ENST00000447027.1_Silent_p.T4420T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4417	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGGGACCACCTGGATCC	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13258-13260)acC>acA		mucin 5B, oligomeric mucus/gel-forming							100.0	118.0	112.0					11																	1271361		2036	4181	6217	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271361C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13251C>A	11.37:g.1271361C>A						MUC5B_ENST00000529681.1_Silent_p.T4417T	p.T4420T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13318	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4417			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.13260C>A	CCDS44515.2																																																																																				0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	133	1	0	0.00185496	1	0.00197886	8	133				
TRAPPC10	7109	broad.mit.edu	37	21	45518355	45518355	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45518355G>A	ENST00000291574.4	+	21	3461	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1096					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTTGGAGGTGGATAAAGATGA	0.512																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3286-3288)Gat>Aat		trafficking protein particle complex 10							125.0	128.0	127.0					21																	45518355		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45518355G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3286G>A	21.37:g.45518355G>A	ENSP00000291574:p.Asp1096Asn						p.D1096N	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			21	3461	+			1096					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3286G>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	36	5.712359	0.96830	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.25414	1.8	5.55	5.55	0.83447	.	0.051264	0.85682	D	0.000000	T	0.38825	0.1055	N	0.22421	0.69	0.53688	D	0.999972	D;P;D	0.71674	0.998;0.728;0.967	D;B;P	0.66716	0.946;0.306;0.722	T	0.15263	-1.0443	10	0.51188	T	0.08	.	19.8608	0.96783	0.0:0.0:1.0:0.0	.	201;355;1096	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	N	1096;227	ENSP00000291574:D1096N	ENSP00000291574:D1096N	D	+	1	0	TRAPPC10	44342783	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.952000	0.75989	2.763000	0.94921	0.655000	0.94253	GAT		0.512	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		47	73	0	0	0	1	0	47	73				
MS4A3	932	broad.mit.edu	37	11	59828745	59828745	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59828745G>T	ENST00000278865.3	+	2	185	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	MS4A3_ENST00000358152.2_Missense_Mutation_p.D38Y|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.D38Y|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	38				D -> N (in Ref. 1; AAA62319). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAGCCCATAGATGGATCACC	0.453																																						ENST00000278865.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(112-114)Gat>Tat		membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)							116.0	109.0	111.0					11																	59828745		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828745G>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.112G>T	11.37:g.59828745G>T	ENSP00000278865:p.Asp38Tyr					MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.D38Y|MS4A3_ENST00000534744.1_Missense_Mutation_p.D38Y	p.D38Y	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN			2	185	+		all_epithelial(135;0.245)	38	D -> N (in Ref. 1; AAA62319).				A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.112G>T	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581694	0.46006	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.39997	1.05;2.94;1.05	4.1	3.18	0.36537	.	1.175690	0.06146	N	0.673304	T	0.50905	0.1643	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;0.998	D;P	0.67382	0.951;0.829	T	0.38845	-0.9642	10	0.66056	D	0.02	-12.0262	7.8314	0.29344	0.1163:0.0:0.8836:0.0	.	38;38	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	Y	38	ENSP00000350872:D38Y;ENSP00000278865:D38Y;ENSP00000434117:D38Y	ENSP00000278865:D38Y	D	+	1	0	MS4A3	59585321	0.006000	0.16342	0.003000	0.11579	0.168000	0.22595	1.286000	0.33273	1.047000	0.40274	0.563000	0.77884	GAT		0.453	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			36	59	1	0	1.47244e-24	1	1.95393e-24	36	59				
GLI3	2737	broad.mit.edu	37	7	42004875	42004875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004875C>T	ENST00000395925.3	-	15	3880	c.3796G>A	c.(3796-3798)Ggt>Agt	p.G1266S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1266					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCGAGTGCACCAGGGGCCACT	0.627									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3796-3798)Ggt>Agt		GLI family zinc finger 3							55.0	57.0	57.0					7																	42004875		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004875C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3796G>A	7.37:g.42004875C>T	ENSP00000379258:p.Gly1266Ser					GLI3_ENST00000479210.1_5'UTR	p.G1266S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3880	-			1266					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3796G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893329	0.17613	.	.	ENSG00000106571	ENST00000395925	T	0.11712	2.75	5.8	-2.25	0.06888	.	0.740121	0.13563	N	0.378614	T	0.02767	0.0083	N	0.02539	-0.55	0.09310	N	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.41770	-0.9490	10	0.05525	T	0.97	.	6.8575	0.24048	0.1173:0.3564:0.0:0.5263	.	1266	P10071	GLI3_HUMAN	S	1266	ENSP00000379258:G1266S	ENSP00000379258:G1266S	G	-	1	0	GLI3	41971400	0.002000	0.14202	0.000000	0.03702	0.050000	0.14768	-0.190000	0.09615	-0.842000	0.04195	0.655000	0.94253	GGT		0.627	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		4	87	0	0	0	1	0	4	87				
ZFAT	57623	broad.mit.edu	37	8	135524755	135524755	+	Silent	SNP	C	C	T	rs537625090		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135524755C>T	ENST00000377838.3	-	14	3498	c.3324G>A	c.(3322-3324)gtG>gtA	p.V1108V	ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000429442.2_Silent_p.V1096V|ZFAT_ENST00000520214.1_Silent_p.V1096V|ZFAT_ENST00000523399.1_Silent_p.V1046V|ZFAT_ENST00000520727.1_Silent_p.V1096V|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1108					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGCGCGGCCACCGCTGCCT	0.527																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3286-3288)gtG>gtA		zinc finger and AT hook domain containing							159.0	172.0	168.0					8																	135524755		2047	4192	6239	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524755C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3324G>A	8.37:g.135524755C>T						ZFAT_ENST00000377838.3_Silent_p.V1108V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Silent_p.V1096V|ZFAT_ENST00000523399.1_Silent_p.V1046V|ZFAT_ENST00000429442.2_Silent_p.V1096V	p.V1096V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3587	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1108					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.3288G>A	CCDS47924.1																																																																																				0.527	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		55	98	0	0	0	1	0	55	98				
PINK1	65018	broad.mit.edu	37	1	20964524	20964524	+	Missense_Mutation	SNP	G	G	T	rs543939499		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20964524G>T	ENST00000321556.4	+	2	671	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTTGCTTCCAGGGAGAGGCCC	0.602																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	ENST00000321556.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14	GRCh37	CM076379	PINK1	M		c.(577-579)Ggg>Tgg		PTEN induced putative kinase 1							64.0	59.0	61.0					1																	20964524		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20964524G>T	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.577G>T	1.37:g.20964524G>T	ENSP00000364204:p.Gly193Trp						p.G193W	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	671	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	193			Protein kinase.		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.577G>T	CCDS211.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864863	0.51482	.	.	ENSG00000158828	ENST00000321556	T	0.74842	-0.88	4.95	2.0	0.26442	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.929555	0.09254	N	0.827437	T	0.76990	0.4065	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.59948	0.866	T	0.62567	-0.6827	10	0.72032	D	0.01	-9.3649	3.7578	0.08592	0.1984:0.0:0.6066:0.1949	.	193	Q9BXM7	PINK1_HUMAN	W	193	ENSP00000364204:G193W	ENSP00000364204:G193W	G	+	1	0	PINK1	20837111	0.004000	0.15560	0.001000	0.08648	0.084000	0.17831	0.363000	0.20301	0.772000	0.33382	0.555000	0.69702	GGG		0.602	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		25	25	1	0	4.43304e-23	1	5.86336e-23	25	25				
COL6A3	1293	broad.mit.edu	37	2	238289974	238289974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238289974C>T	ENST00000295550.4	-	5	1933	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	COL6A3_ENST00000346358.4_Missense_Mutation_p.R494K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R288K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R87K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R288K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R288K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R293K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R87K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	494	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATTCAGGCCTCACAGTGTC	0.507																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1480-1482)aGg>aAg		collagen, type VI, alpha 3							91.0	96.0	95.0					2																	238289974		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289974C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1481G>A	2.37:g.238289974C>T	ENSP00000295550:p.Arg494Lys					COL6A3_ENST00000347401.3_Missense_Mutation_p.R293K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R288K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R494K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R288K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R87K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R288K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R87K	p.R494K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	1933	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	494			Nonhelical region.|VWFA 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1481G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	6.914	0.538276	0.13188	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.34	-2.89	0.05665	von Willebrand factor, type A (3);	0.321828	0.26496	N	0.024053	T	0.66307	0.2776	N	0.12887	0.27	0.09310	N	1	B;B;B;B;B;B	0.27140	0.001;0.169;0.001;0.0;0.012;0.002	B;B;B;B;B;B	0.37989	0.005;0.262;0.014;0.009;0.043;0.005	T	0.56153	-0.8026	10	0.02654	T	1	.	13.7151	0.62691	0.0:0.3253:0.0:0.6747	.	494;87;87;288;288;494	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	K	494;293;288;87;288;494;288;87;494	ENSP00000295550:R494K;ENSP00000315609:R293K;ENSP00000315873:R288K;ENSP00000418285:R87K;ENSP00000386844:R288K;ENSP00000295546:R494K;ENSP00000375861:R288K;ENSP00000375860:R87K;ENSP00000389539:R494K	ENSP00000295550:R494K	R	-	2	0	COL6A3	237954713	0.001000	0.12720	0.090000	0.20809	0.351000	0.29236	-0.561000	0.05957	-0.442000	0.07190	0.655000	0.94253	AGG		0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		55	92	0	0	0	1	0	55	92				
ESYT3	83850	broad.mit.edu	37	3	138187662	138187662	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138187662G>T	ENST00000389567.4	+	14	1559	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	458	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGCTGCAGAGAAACCCTTTT	0.468																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.e14-1		extended synaptotagmin-like protein 3							264.0	288.0	280.0					3																	138187662		2203	4300	6503	SO:0001630	splice_region_variant	83850					integral to membrane|plasma membrane		g.chr3:138187662G>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1372-1G>T	3.37:g.138187662G>T							p.R458_splice	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			14	1559	+			458			C2 2.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Splice_Site	SNP	ENST00000389567.4	37	c.1371_splice	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878395	0.51801	.	.	ENSG00000158220	ENST00000389567	T	0.37752	1.18	4.29	2.46	0.29980	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.173197	0.36268	N	0.002689	T	0.40094	0.1103	L	0.40543	1.245	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	T	0.12091	-1.0561	10	0.37606	T	0.19	-5.0494	5.8507	0.18691	0.1065:0.1944:0.6991:0.0	.	458	A0FGR9	ESYT3_HUMAN	I	458	ENSP00000374218:R458I	ENSP00000374218:R458I	R	+	2	0	ESYT3	139670352	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.394000	0.34509	0.429000	0.26202	-0.448000	0.05591	AGA		0.468	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	Missense_Mutation	118	171	1	0	1.1727e-76	1	1.58806e-76	118	171				
ATXN2L	11273	broad.mit.edu	37	16	28844586	28844586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28844586G>A	ENST00000336783.4	+	14	2033	c.1866G>A	c.(1864-1866)gaG>gaA	p.E622E	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.E622E|ATXN2L_ENST00000395547.2_Silent_p.E622E|ATXN2L_ENST00000564304.1_Silent_p.E628E|ATXN2L_ENST00000382686.4_Silent_p.E622E|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.E622E|ATXN2L_ENST00000570200.1_Silent_p.E622E	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	622					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGGGCCAGAGCAGCCCCCAC	0.617																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1864-1866)gaG>gaA		ataxin 2-like							54.0	57.0	56.0					16																	28844586		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28844586G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1866G>A	16.37:g.28844586G>A						ATXN2L_ENST00000325215.6_Silent_p.E622E|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Silent_p.E628E|ATXN2L_ENST00000340394.8_Silent_p.E622E|ATXN2L_ENST00000570200.1_Silent_p.E622E|ATXN2L_ENST00000382686.4_Silent_p.E622E|ATXN2L_ENST00000395547.2_Silent_p.E622E|RP11-24N18.1_ENST00000563565.1_RNA	p.E622E	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			14	2033	+			622					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.1866G>A	CCDS10641.1																																																																																				0.617	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		23	59	0	0	0	1	0	23	59				
ZSCAN9	7746	broad.mit.edu	37	6	28195029	28195029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28195029G>A	ENST00000252207.5	+	2	315	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ZSCAN9_ENST00000527436.1_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.R56Q	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	56	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGCACTTTCGACAGCTGTGC	0.507																																						ENST00000527436.1																			0											c.(166-168)cGa>cAa		zinc finger and SCAN domain containing 9							75.0	70.0	72.0					6																	28195029		2203	4300	6503	SO:0001583	missense	7746							g.chr6:28195029G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.167G>A	6.37:g.28195029G>A	ENSP00000252207:p.Arg56Gln					ZSCAN9_ENST00000425468.2_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.R56Q|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.R56Q	p.R56Q							2	268	+								B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	c.167G>A	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375483	0.61735	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	3.22	3.22	0.36961	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.29783	0.0744	H	0.97214	3.96	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.988	T	0.19516	-1.0303	9	0.87932	D	0	.	10.168	0.42893	0.0:0.0:1.0:0.0	.	56;56	E7EVQ2;O15535	.;ZN193_HUMAN	Q	56	ENSP00000404074:R56Q;ENSP00000252207:R56Q;ENSP00000433402:R56Q;ENSP00000433468:R56Q;ENSP00000436166:R56Q	ENSP00000252207:R56Q	R	+	2	0	ZNF193	28303008	0.327000	0.24678	0.015000	0.15790	0.613000	0.37349	4.607000	0.61133	2.086000	0.62901	0.561000	0.74099	CGA		0.507	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		19	31	0	0	0	1	0	19	31				
JAKMIP3	282973	broad.mit.edu	37	10	133954008	133954008	+	Silent	SNP	C	C	T	rs376570759		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133954008C>T	ENST00000298622.4	+	9	1536	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	466						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)		CCCTGGAATCCGACGGCTCCT	0.587																																						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.(1396-1398)tcC>tcT		Janus kinase and microtubule interacting protein 3		C		0,4006		0,0,2003	58.0	67.0	64.0		1398	-7.2	0.0	10		64	2,8314		0,2,4156	no	coding-synonymous	JAKMIP3	NM_001105521.2		0,2,6159	TT,TC,CC		0.0241,0.0,0.0162		466/845	133954008	2,12320	2003	4158	6161	SO:0001819	synonymous_variant	282973							g.chr10:133954008C>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.1398C>T	10.37:g.133954008C>T							p.S466S	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)	9	1536	+		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	Silent	SNP	ENST00000298622.4	37	c.1398C>T	CCDS44494.1																																																																																				0.587	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		12	16	0	0	0	1	0	12	16				
DDX6	1656	broad.mit.edu	37	11	118630663	118630663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118630663C>T	ENST00000526070.2	-	8	1192	c.832G>A	c.(832-834)Gct>Act	p.A278T	DDX6_ENST00000534980.1_Missense_Mutation_p.A278T|DDX6_ENST00000264018.4_Missense_Mutation_p.A278T	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	278	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAAAGTAGCGGAATATAGT	0.383			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(832-834)Gct>Act		DEAD (Asp-Glu-Ala-Asp) box helicase 6							114.0	107.0	109.0					11																	118630663		1847	4102	5949	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118630663C>T	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.832G>A	11.37:g.118630663C>T	ENSP00000433704:p.Ala278Thr					DDX6_ENST00000534980.1_Missense_Mutation_p.A278T|DDX6_ENST00000526070.2_Missense_Mutation_p.A278T	p.A278T	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	8	1137	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	278			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.832G>A	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	C	36	5.799091	0.96960	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.32272	1.46;1.46;1.46	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82143	-0.0603	10	0.87932	D	0	.	19.9318	0.97122	0.0:1.0:0.0:0.0	.	278	P26196	DDX6_HUMAN	T	278	ENSP00000264018:A278T;ENSP00000442266:A278T;ENSP00000433704:A278T	ENSP00000264018:A278T	A	-	1	0	DDX6	118135873	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GCT		0.383	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		18	24	0	0	0	1	0	18	24				
MYCBP2	23077	broad.mit.edu	37	13	77661658	77661658	+	Missense_Mutation	SNP	C	C	A	rs371370595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77661658C>A	ENST00000544440.2	-	62	10739	c.10722G>T	c.(10720-10722)gaG>gaT	p.E3574D	MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3574D|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E3612D					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTTCATCCTCTTCTTCCT	0.363																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(10834-10836)gaG>gaT		MYC binding protein 2, E3 ubiquitin protein ligase							125.0	101.0	109.0					13																	77661658		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77661658C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10722G>T	13.37:g.77661658C>A	ENSP00000444596:p.Glu3574Asp					MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3574D|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3574D	p.E3612D	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	62	11102	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3574						Missense_Mutation	SNP	ENST00000544440.2	37	c.10836G>T		.	.	.	.	.	.	.	.	.	.	c	6.293	0.422234	0.11928	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.15	-9.46	0.00597	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	L	0.34521	1.04	0.33796	D	0.626022	B	0.02656	0.0	B	0.04013	0.001	T	0.02526	-1.1146	10	0.37606	T	0.19	.	7.4449	0.27205	0.0776:0.2889:0.077:0.5565	.	3574	O75592	MYCB2_HUMAN	D	3574;3612;3574	ENSP00000349892:E3574D;ENSP00000384288:E3612D;ENSP00000444596:E3574D	ENSP00000349892:E3574D	E	-	3	2	MYCBP2	76559659	0.003000	0.15002	0.557000	0.28306	0.092000	0.18411	-1.076000	0.03420	-1.840000	0.01184	-3.877000	0.00017	GAG		0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		14	21	1	0	0.000219431	1	0.000240782	14	21				
KDM6A	7403	broad.mit.edu	37	X	44920633	44920633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44920633A>G	ENST00000377967.4	+	14	1435	c.1394A>G	c.(1393-1395)cAt>cGt	p.H465R	KDM6A_ENST00000382899.4_Missense_Mutation_p.H472R|KDM6A_ENST00000536777.1_Missense_Mutation_p.H420R|KDM6A_ENST00000543216.1_Missense_Mutation_p.H420R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	465	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACAAGCTCATTCATGGTGT	0.328			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1393-1395)cAt>cGt		lysine (K)-specific demethylase 6A							67.0	52.0	57.0					X																	44920633		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44920633A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1394A>G	X.37:g.44920633A>G	ENSP00000367203:p.His465Arg					KDM6A_ENST00000543216.1_Missense_Mutation_p.H420R|KDM6A_ENST00000382899.4_Missense_Mutation_p.H472R|KDM6A_ENST00000536777.1_Missense_Mutation_p.H420R	p.H465R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			14	1435	+			465					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.1394A>G	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.72|13.72	2.320210|2.320210	0.41096|0.41096	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000451692	T;T;T;T|.	0.17054|.	2.32;2.33;2.31;2.3|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.148678|.	0.64402|.	D|.	0.000008|.	T|T	0.51126|0.51126	0.1656|0.1656	N|N	0.19112|0.19112	0.55|0.55	0.44000|0.44000	D|D	0.996708|0.996708	B;P;B;B;B;B|.	0.51933|.	0.244;0.949;0.001;0.0;0.244;0.0|.	B;P;B;B;B;B|.	0.45881|.	0.073;0.496;0.003;0.002;0.073;0.001|.	T|T	0.48906|0.48906	-0.8993|-0.8993	10|5	0.35671|.	T|.	0.21|.	-8.8837|-8.8837	15.226|15.226	0.73352|0.73352	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	138;472;420;517;465;465|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	R|V	162;465;420;472;420;58|129	ENSP00000367203:H465R;ENSP00000437405:H420R;ENSP00000372355:H472R;ENSP00000443078:H420R|.	ENSP00000334340:H162R|.	H|I	+|+	2|1	0|0	KDM6A|KDM6A	44805577|44805577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.153000|6.153000	0.71819|0.71819	1.979000|1.979000	0.57680|0.57680	0.481000|0.481000	0.45027|0.45027	CAT|ATT		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		4	33	0	0	0	1	0	4	33				
RECQL	5965	broad.mit.edu	37	12	21644539	21644539	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21644539G>A	ENST00000444129.2	-	3	596	c.128C>T	c.(127-129)aCa>aTa	p.T43I	RECQL_ENST00000421138.2_Missense_Mutation_p.T43I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	43					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATTTTCTTTGTCAGGACTTT	0.368								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(127-129)aCa>aTa	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							52.0	51.0	51.0					12																	21644539		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21644539G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.128C>T	12.37:g.21644539G>A	ENSP00000416739:p.Thr43Ile					RECQL_ENST00000421138.2_Missense_Mutation_p.T43I	p.T43I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			3	596	-			43					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.128C>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126416	0.06795	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964;ENST00000539672	T;T;T;T;D;D;D;T	0.82803	0.48;0.48;0.76;0.76;-1.65;-1.65;-1.65;-1.29	4.33	3.36	0.38483	.	0.226724	0.39020	N	0.001482	T	0.79747	0.4499	M	0.61703	1.905	0.09310	N	1	B	0.17852	0.024	B	0.22880	0.042	T	0.71244	-0.4650	10	0.46703	T	0.11	-9.8386	11.8585	0.52453	0.0:0.0:0.7231:0.2769	.	43	P46063	RECQ1_HUMAN	I	43	ENSP00000416739:T43I;ENSP00000395449:T43I;ENSP00000379400:T43I;ENSP00000318727:T43I;ENSP00000445555:T43I;ENSP00000439069:T43I;ENSP00000446036:T43I;ENSP00000440700:T43I	ENSP00000318727:T43I	T	-	2	0	RECQL	21535806	0.897000	0.30589	0.417000	0.26559	0.040000	0.13550	1.425000	0.34859	2.390000	0.81377	0.655000	0.94253	ACA		0.368	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		5	40	0	0	0	1	0	5	40				
PPP3CA	5530	broad.mit.edu	37	4	101947077	101947077	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:101947077G>T	ENST00000394854.3	-	14	2194	c.1511C>A	c.(1510-1512)aCc>aAc	p.T504N	PPP3CA_ENST00000323055.6_Missense_Mutation_p.T452N|PPP3CA_ENST00000512215.1_Missense_Mutation_p.T272N|PPP3CA_ENST00000394853.4_Missense_Mutation_p.T494N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.T437N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.T406N	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	504					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGTCTCTGAGGTGAGAGCCTT	0.448																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1510-1512)aCc>aAc		protein phosphatase 3, catalytic subunit, alpha isozyme							242.0	232.0	235.0					4																	101947077		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947077G>T		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1511C>A	4.37:g.101947077G>T	ENSP00000378323:p.Thr504Asn					PPP3CA_ENST00000394853.4_Missense_Mutation_p.T494N|PPP3CA_ENST00000323055.6_Missense_Mutation_p.T452N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.T406N|PPP3CA_ENST00000512215.1_Missense_Mutation_p.T272N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.T437N	p.T504N	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2194	-			504					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1511C>A	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037794	0.35989	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.44482	0.92;2.5;2.53;2.52;2.24;2.51	6.06	6.06	0.98353	.	0.458554	0.24441	N	0.038506	T	0.27798	0.0684	N	0.08118	0	0.36214	D	0.851546	B;B;B;B;B;B	0.26672	0.005;0.009;0.005;0.009;0.005;0.156	B;B;B;B;B;B	0.16722	0.004;0.015;0.004;0.01;0.004;0.016	T	0.16808	-1.0390	10	0.31617	T	0.26	-0.0186	20.6282	0.99521	0.0:0.0:1.0:0.0	.	504;272;452;494;406;437	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	N	272;504;452;494;406;437	ENSP00000422781:T272N;ENSP00000378323:T504N;ENSP00000320580:T452N;ENSP00000378322:T494N;ENSP00000422990:T406N;ENSP00000429350:T437N	ENSP00000320580:T452N	T	-	2	0	PPP3CA	102166100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.018000	0.76406	2.871000	0.98454	0.655000	0.94253	ACC		0.448	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		10	130	1	0	1.58986e-06	1	1.84011e-06	10	130				
MAN2A1	4124	broad.mit.edu	37	5	109183481	109183481	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109183481C>T	ENST00000261483.4	+	19	4018	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	989					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAAGAAGTGCTGTTAATACG	0.323																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2965-2967)gCt>gTt		mannosidase, alpha, class 2A, member 1							89.0	86.0	87.0					5																	109183481		2201	4300	6501	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109183481C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2966C>T	5.37:g.109183481C>T	ENSP00000261483:p.Ala989Val						p.A989V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	19	4018	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	989					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2966C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520317	0.44866	.	.	ENSG00000112893	ENST00000261483	T	0.78924	-1.22	5.59	-9.86	0.00473	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.807816	0.11364	N	0.571646	T	0.42966	0.1226	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.29150	-1.0021	10	0.25106	T	0.35	0.5415	3.2972	0.06970	0.1516:0.2804:0.4149:0.1531	.	989	Q16706	MA2A1_HUMAN	V	989	ENSP00000261483:A989V	ENSP00000261483:A989V	A	+	2	0	MAN2A1	109211380	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-0.129000	0.10515	-1.418000	0.02014	0.655000	0.94253	GCT		0.323	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			12	22	0	0	0	1	0	12	22				
SYNE1	23345	broad.mit.edu	37	6	152782732	152782732	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152782732C>A	ENST00000367255.5	-	21	2995	c.2394G>T	c.(2392-2394)aaG>aaT	p.K798N	SYNE1_ENST00000367253.4_Splice_Site_p.K798N|SYNE1_ENST00000367248.3_Splice_Site_p.K788N|SYNE1_ENST00000265368.4_Splice_Site_p.K798N|SYNE1_ENST00000341594.5_Splice_Site_p.K805N|SYNE1_ENST00000448038.1_Splice_Site_p.K805N|SYNE1_ENST00000495090.2_Splice_Site_p.K365N|SYNE1_ENST00000423061.1_Splice_Site_p.K805N|SYNE1_ENST00000413186.2_Splice_Site_p.K798N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	798					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTCGCACCTTGGTTAGCT	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e21+1		spectrin repeat containing, nuclear envelope 1							223.0	156.0	179.0					6																	152782732		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152782732C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2394+1G>T	6.37:g.152782732C>A		HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Splice_Site_p.K798_splice|SYNE1_ENST00000341594.5_Splice_Site_p.K805_splice|SYNE1_ENST00000265368.4_Splice_Site_p.K798_splice|SYNE1_ENST00000413186.2_Splice_Site_p.K798_splice|SYNE1_ENST00000448038.1_Splice_Site_p.K805_splice|SYNE1_ENST00000367248.3_Splice_Site_p.K788_splice|SYNE1_ENST00000423061.1_Splice_Site_p.K805_splice|SYNE1_ENST00000495090.2_Splice_Site_p.K365_splice	p.K798_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	21	2995	-		Ovarian(120;0.0955)	798					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.2394_splice	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981353	0.53827	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.57436	1.35;1.35;1.35;1.35;0.4;1.35;1.35;1.35;1.35	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	T	0.62925	0.2468	M	0.66939	2.045	0.80722	D	1	D;P;P;P;P;P;P	0.89917	1.0;0.927;0.775;0.915;0.775;0.927;0.775	D;P;B;P;B;P;B	0.71870	0.975;0.463;0.429;0.515;0.287;0.463;0.429	T	0.61431	-0.7064	9	.	.	.	.	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	781;798;365;788;798;798;805	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	798;805;798;805;805;798;788;798;365	ENSP00000356224:K798N;ENSP00000396024:K805N;ENSP00000265368:K798N;ENSP00000390975:K805N;ENSP00000341887:K805N;ENSP00000356222:K798N;ENSP00000356217:K788N;ENSP00000414510:K798N;ENSP00000438508:K365N	.	K	-	3	2	SYNE1	152824425	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	4.689000	0.61723	2.937000	0.99478	0.650000	0.86243	AAG		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation	12	96	1	0	0.00010058	1	0.000111121	12	96				
TF	7018	broad.mit.edu	37	3	133486900	133486900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133486900C>A	ENST00000402696.3	+	13	1999	c.1514C>A	c.(1513-1515)cCt>cAt	p.P505H	TF_ENST00000264998.3_Missense_Mutation_p.P378H	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	505	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGTTGTGCCCCTGGGTCTAAG	0.463																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1513-1515)cCt>cAt		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						102.0	104.0	103.0					3																	133486900		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133486900C>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1514C>A	3.37:g.133486900C>A	ENSP00000385834:p.Pro505His					TF_ENST00000264998.3_Missense_Mutation_p.P378H	p.P505H	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			13	1999	+			505			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1514C>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886934	0.72410	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.28069	1.63;1.63	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84100	0.0395	10	0.87932	D	0	-25.1431	16.7849	0.85572	0.0:1.0:0.0:0.0	.	505	P02787	TRFE_HUMAN	H	505;378	ENSP00000385834:P505H;ENSP00000264998:P378H	ENSP00000264998:P378H	P	+	2	0	TF	134969590	1.000000	0.71417	0.478000	0.27316	0.776000	0.43924	6.678000	0.74508	2.561000	0.86390	0.561000	0.74099	CCT		0.463	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		6	108	1	0	3.59834e-05	1	4.01776e-05	6	108				
PLBD1	79887	broad.mit.edu	37	12	14706205	14706205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14706205G>A	ENST00000240617.5	-	2	909	c.257C>T	c.(256-258)gCt>gTt	p.A86V	RN7SKP134_ENST00000363960.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	86					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCATAGCCAGCTCTGATCTC	0.478																																						ENST00000240617.5																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(256-258)gCt>gTt		phospholipase B domain containing 1							112.0	101.0	105.0					12																	14706205		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14706205G>A	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.257C>T	12.37:g.14706205G>A	ENSP00000240617:p.Ala86Val						p.A86V	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN			2	909	-			86					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.257C>T	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398863	0.96030	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T;T	0.18960	2.18;2.18	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	L	0.58428	1.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.72625	0.978	T	0.14868	-1.0457	10	0.72032	D	0.01	-17.9835	19.0599	0.93085	0.0:0.0:1.0:0.0	.	86	Q6P4A8	PLBL1_HUMAN	V	86;39	ENSP00000240617:A86V;ENSP00000438367:A39V	ENSP00000240617:A86V	A	-	2	0	PLBD1	14597472	1.000000	0.71417	0.749000	0.31150	0.957000	0.61999	8.547000	0.90665	2.941000	0.99782	0.655000	0.94253	GCT		0.478	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		8	34	0	0	0	1	0	8	34				
KRT6A	3853	broad.mit.edu	37	12	52884480	52884480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52884480G>T	ENST00000330722.6	-	5	1018	c.950C>A	c.(949-951)tCt>tAt	p.S317Y		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	317	Linker 12.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCACCACAGATGTGTCTGA	0.512																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(949-951)tCt>tAt		keratin 6A							161.0	145.0	151.0					12																	52884480		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884480G>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.950C>A	12.37:g.52884480G>T	ENSP00000369317:p.Ser317Tyr						p.S317Y	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1018	-			317			Linker 12.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.950C>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.274399	0.80580	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.78126	-1.15	5.47	5.47	0.80525	Filament (1);	0.000000	0.56097	D	0.000021	D	0.92919	0.7747	H	0.97265	3.97	0.50467	D	0.999879	D	0.89917	1.0	D	0.83275	0.996	D	0.94878	0.8036	10	0.87932	D	0	.	19.776	0.96393	0.0:0.0:1.0:0.0	.	317	P02538	K2C6A_HUMAN	Y	317;273	ENSP00000369317:S317Y	ENSP00000369317:S317Y	S	-	2	0	KRT6A	51170747	0.998000	0.40836	0.643000	0.29450	0.887000	0.51463	4.672000	0.61597	2.764000	0.94973	0.556000	0.70494	TCT		0.512	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		6	106	1	0	8.12818e-05	1	8.99451e-05	6	106				
DNAL1	83544	broad.mit.edu	37	14	74125656	74125656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74125656G>A	ENST00000553645.2	+	3	190	c.149G>A	c.(148-150)tGc>tAc	p.C50Y	DNAL1_ENST00000540526.1_Missense_Mutation_p.C11Y|RNU6-240P_ENST00000516098.1_RNA|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_Missense_Mutation_p.C11Y	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	50										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		CTTGCTAATTGCGAGTAAGTT	0.398																																						ENST00000553645.1																			0				kidney(1)|lung(2)	3						c.(148-150)tGc>tAc		dynein, axonemal, light chain 1							277.0	278.0	278.0					14																	74125656		1880	4110	5990	SO:0001583	missense	83544							g.chr14:74125656G>A	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.149G>A	14.37:g.74125656G>A	ENSP00000452037:p.Cys50Tyr					DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000540526.1_Missense_Mutation_p.C11Y|DNAL1_ENST00000554871.1_Missense_Mutation_p.C11Y|DNAL1_ENST00000554339.1_Intron	p.C50Y	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)	3	190	+			50					B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP	ENST00000553645.2	37	c.149G>A	CCDS45134.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589054	0.86851	.	.	ENSG00000119661	ENST00000553645;ENST00000555919;ENST00000554871;ENST00000540526	T;T;T;T	0.23147	1.92;3.0;1.92;1.92	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.77520	-0.2557	10	0.87932	D	0	-14.0671	18.6207	0.91319	0.0:0.0:1.0:0.0	.	50	Q4LDG9	DNAL1_HUMAN	Y	50;11;11;11	ENSP00000452037:C50Y;ENSP00000451101:C11Y;ENSP00000451834:C11Y;ENSP00000439695:C11Y	ENSP00000310360:C50Y	C	+	2	0	DNAL1	73195409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.635000	0.91006	2.701000	0.92244	0.563000	0.77884	TGC		0.398	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414565.2	NM_031427		92	183	0	0	0	1	0	92	183				
MST1R	4486	broad.mit.edu	37	3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3157-3159)Cgg>Tgg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							150.0	144.0	146.0					3																	49932714		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932714G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3157C>T	3.37:g.49932714G>A	ENSP00000296474:p.Arg1053Trp					MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	p.R1053W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3184	-			1053					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3157C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332890	0.41297	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10288	2.89;2.89	5.84	1.71	0.24356	.	0.615148	0.17959	N	0.156241	T	0.18173	0.0436	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.04065	-1.0980	10	0.62326	D	0.03	-2.2724	8.0852	0.30769	0.1508:0.0:0.6705:0.1787	.	1053	Q04912	RON_HUMAN	W	1053;1004	ENSP00000296474:R1053W;ENSP00000341325:R1004W	ENSP00000296474:R1053W	R	-	1	2	MST1R	49907718	0.000000	0.05858	0.363000	0.25875	0.029000	0.11900	0.091000	0.15046	0.826000	0.34661	-0.215000	0.12644	CGG		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			7	143	0	0	0	1	0	7	143				
CNOT1	23019	broad.mit.edu	37	16	58609021	58609021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58609021G>T	ENST00000317147.5	-	15	2049	c.1717C>A	c.(1717-1719)Ctg>Atg	p.L573M	CNOT1_ENST00000569240.1_Missense_Mutation_p.L573M|CNOT1_ENST00000441024.2_Missense_Mutation_p.L573M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	573					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCATTTAGCAGCATTGACAAG	0.393																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1717-1719)Ctg>Atg		CCR4-NOT transcription complex, subunit 1							115.0	99.0	104.0					16																	58609021		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58609021G>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1717C>A	16.37:g.58609021G>T	ENSP00000320949:p.Leu573Met					CNOT1_ENST00000569240.1_Missense_Mutation_p.L573M|CNOT1_ENST00000441024.2_Missense_Mutation_p.L573M	p.L573M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	15	2049	-			573					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1717C>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747303	0.69418	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.18657	2.2;2.2	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	L	0.56769	1.78	0.80722	D	1	D;P;P	0.69078	0.997;0.921;0.952	D;B;P	0.78314	0.991;0.352;0.554	T	0.16600	-1.0397	9	.	.	.	-13.4187	18.9339	0.92577	0.0:0.0:1.0:0.0	.	573;573;573	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	M	573;2;573;573	ENSP00000320949:L573M;ENSP00000413113:L573M	.	L	-	1	2	CNOT1	57166522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.650000	0.74368	2.473000	0.83533	0.563000	0.77884	CTG		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	93	1	0	0.000274275	1	0.000298791	7	93				
COL6A3	1293	broad.mit.edu	37	2	238253054	238253054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238253054G>A	ENST00000295550.4	-	36	8059	c.7607C>T	c.(7606-7608)gCg>gTg	p.A2536V	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2336V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2330V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2330V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2335V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1929V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2536	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGATCCCCGCATCTGAGAG	0.537																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7606-7608)gCg>gTg		collagen, type VI, alpha 3							160.0	158.0	159.0					2																	238253054		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253054G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7607C>T	2.37:g.238253054G>A	ENSP00000295550:p.Ala2536Val					COL6A3_ENST00000347401.3_Missense_Mutation_p.A2335V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2330V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2336V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2330V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1929V	p.A2536V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	8059	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2536			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7607C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982727	0.34942	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.08	4.14	0.48551	von Willebrand factor, type A (3);	0.121581	0.36519	N	0.002555	D	0.87378	0.6162	L	0.51422	1.61	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.973;0.954;0.954;0.998	D	0.84770	0.0767	10	0.27785	T	0.31	.	14.6295	0.68645	0.0:0.0:0.8539:0.1461	.	1929;1929;2330;2536	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	V	2536;2335;2330;1929;2330;2336	ENSP00000295550:A2536V;ENSP00000315609:A2335V;ENSP00000315873:A2330V;ENSP00000418285:A1929V;ENSP00000386844:A2330V;ENSP00000295546:A2336V	ENSP00000295550:A2536V	A	-	2	0	COL6A3	237917793	1.000000	0.71417	0.115000	0.21578	0.537000	0.34900	7.330000	0.79181	2.507000	0.84556	0.655000	0.94253	GCG		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		17	182	0	0	0	1	0	17	182				
DCAF10	79269	broad.mit.edu	37	9	37854804	37854804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37854804G>T	ENST00000377724.3	+	4	1244	c.879G>T	c.(877-879)aaG>aaT	p.K293N	DCAF10_ENST00000242323.7_Missense_Mutation_p.K293N|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	293					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GTCCACATAAGAAATTCTTTC	0.343																																						ENST00000242323.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.(877-879)aaG>aaT		DDB1 and CUL4 associated factor 10							179.0	166.0	170.0					9																	37854804		2203	4300	6503	SO:0001583	missense	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37854804G>T	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.879G>T	9.37:g.37854804G>T	ENSP00000366953:p.Lys293Asn					RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.K293N	p.K293N			Q5QP82	DCA10_HUMAN			4	953	+			293					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.879G>T	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403653	0.62288	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.01347	4.99;4.99	5.47	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.03783	0.0107	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.989;0.999	D;D	0.80764	0.978;0.994	T	0.56080	-0.8038	10	0.52906	T	0.07	.	10.9523	0.47336	0.1574:0.0:0.8425:0.0	.	293;293	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	N	293	ENSP00000366953:K293N;ENSP00000242323:K293N	ENSP00000242323:K293N	K	+	3	2	DCAF10	37844804	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.351000	0.52232	0.765000	0.33221	0.591000	0.81541	AAG		0.343	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		13	121	1	0	2.61681e-11	1	3.25769e-11	13	121				
ARHGAP18	93663	broad.mit.edu	37	6	129959757	129959757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129959757C>T	ENST00000368149.2	-	3	422	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTAAGCCACTCTTCTTCCAAT	0.388																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(334-336)Gag>Aag		Rho GTPase activating protein 18							50.0	55.0	53.0					6																	129959757		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959757C>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.334G>A	6.37:g.129959757C>T	ENSP00000357131:p.Glu112Lys						p.E112K	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	422	-			112						Missense_Mutation	SNP	ENST00000368149.2	37	c.334G>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589209	0.46110	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.83	4.05	0.47172	.	0.159105	0.56097	D	0.000035	T	0.58323	0.2114	M	0.85945	2.785	0.42075	D	0.991226	B;B	0.21071	0.004;0.051	B;B	0.23275	0.007;0.045	T	0.59710	-0.7403	8	.	.	.	.	16.4988	0.84252	0.0:0.7341:0.2659:0.0	.	112;112	A9UK01;Q8N392	.;RHG18_HUMAN	K	67;112	.	.	E	-	1	0	ARHGAP18	130001450	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	3.212000	0.51145	0.793000	0.33875	-0.133000	0.14855	GAG		0.388	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	27	0	0	0	1	0	7	27				
ATP7A	538	broad.mit.edu	37	X	77266736	77266736	+	Nonsense_Mutation	SNP	C	C	T	rs72554640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77266736C>T	ENST00000341514.6	+	8	2088	c.1933C>T	c.(1933-1935)Cga>Tga	p.R645*	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Nonsense_Mutation_p.R645*	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	645					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGATCATAAACGAGAAATAAG	0.313																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53	GRCh37	CM940140	ATP7A	M	rs72554640	c.(1933-1935)Cga>Tga		ATPase, Cu++ transporting, alpha polypeptide							93.0	89.0	91.0					X																	77266736		2203	4295	6498	SO:0001587	stop_gained	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77266736C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1933C>T	X.37:g.77266736C>T	ENSP00000345728:p.Arg645*					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Nonsense_Mutation_p.R645*	p.R645*	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			8	2088	+			645					B1AT72|O00227|O00745|Q9BYY8	Nonsense_Mutation	SNP	ENST00000341514.6	37	c.1933C>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	40	8.412832	0.98801	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	.	.	.	5.47	5.47	0.80525	.	0.162696	0.41294	D	0.000907	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.7869	14.0543	0.64756	0.0:0.8533:0.1466:0.0	.	.	.	.	X	645	.	ENSP00000345728:R645X	R	+	1	2	ATP7A	77153392	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.766000	0.47629	2.295000	0.77249	0.506000	0.49869	CGA		0.313	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		26	55	0	0	0	1	0	26	55				
TFIP11	24144	broad.mit.edu	37	22	26892165	26892165	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26892165A>G	ENST00000407690.1	-	12	2006	c.1723T>C	c.(1723-1725)Tcc>Ccc	p.S575P	TFIP11_ENST00000407431.1_Missense_Mutation_p.S575P|TFIP11_ENST00000407148.1_Missense_Mutation_p.S575P|TFIP11_ENST00000405938.1_Missense_Mutation_p.S575P	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	575					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGGCGCTGGACAGCTTACTA	0.592																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1723-1725)Tcc>Ccc		tuftelin interacting protein 11							71.0	77.0	75.0					22																	26892165		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26892165A>G	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1723T>C	22.37:g.26892165A>G	ENSP00000384421:p.Ser575Pro					TFIP11_ENST00000407148.1_Missense_Mutation_p.S575P|TFIP11_ENST00000405938.1_Missense_Mutation_p.S575P|TFIP11_ENST00000407431.1_Missense_Mutation_p.S575P	p.S575P	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			12	2006	-			575					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1723T>C	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146331	0.57044	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.39	-1.32	0.09201	GC-rich sequence DNA-binding factor domain (1);	0.402514	0.28312	N	0.015813	T	0.52789	0.1756	M	0.71581	2.175	0.36925	D	0.891608	B	0.31274	0.317	B	0.38842	0.283	T	0.58211	-0.7676	10	0.29301	T	0.29	-24.954	21.2909	0.99950	0.1775:0.8225:0.0:0.0	.	575	Q9UBB9	TFP11_HUMAN	P	575;575;575;260;575	ENSP00000384421:S575P;ENSP00000383892:S575P;ENSP00000385861:S575P;ENSP00000384297:S575P	ENSP00000384297:S575P	S	-	1	0	TFIP11	25222165	0.413000	0.25400	0.987000	0.45799	0.906000	0.53458	0.268000	0.18571	-0.482000	0.06782	0.533000	0.62120	TCC		0.592	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		23	43	0	0	0	1	0	23	43				
PAGR1	79447	broad.mit.edu	37	16	29831064	29831064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29831064C>T	ENST00000320330.6	+	3	1316	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	MVP_ENST00000357402.5_5'Flank|AC009133.20_ENST00000569039.1_RNA|MVP_ENST00000395353.1_5'Flank|AC009133.12_ENST00000564980.1_RNA|MVP_ENST00000452209.2_5'Flank|AC009133.12_ENST00000569809.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R252W			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	252						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CCCTCGGCAGCGGAAATACTG	0.642																																						ENST00000320330.6																			0											c.(754-756)Cgg>Tgg		PAXIP1 associated glutamate-rich protein 1							35.0	37.0	36.0					16																	29831064		2197	4300	6497	SO:0001583	missense	79447							g.chr16:29831064C>T	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.754C>T	16.37:g.29831064C>T	ENSP00000326519:p.Arg252Trp					AC009133.20_ENST00000569039.1_RNA|CTD-2574D22.6_ENST00000562285.1_Silent_p.S81S|AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA	p.R252W	NM_024516.3	NP_078792.1					3	1316	+								A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	c.754C>T	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120954	0.77436	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	L	0.51422	1.61	0.46954	D	0.999263	D	0.89917	1.0	D	0.72625	0.978	T	0.76332	-0.2998	9	0.87932	D	0	-10.5822	17.5892	0.87991	0.0:1.0:0.0:0.0	.	252	Q9BTK6	PA1_HUMAN	W	252	.	ENSP00000326519:R252W	R	+	1	2	C16orf53	29738565	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.719000	0.54926	2.767000	0.95098	0.655000	0.94253	CGG		0.642	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		12	19	0	0	0	1	0	12	19				
EN1	2019	broad.mit.edu	37	2	119600595	119600595	+	Silent	SNP	G	G	A	rs139806570		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:119600595G>A	ENST00000295206.6	-	2	1608	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	366					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCCAGGCCGTTCTTGATGC	0.617																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1096-1098)aaC>aaT		engrailed homeobox 1		G		1,4405	2.1+/-5.4	0,1,2202	77.0	69.0	72.0		1098	5.1	1.0	2	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	EN1	NM_001426.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		366/393	119600595	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600595G>A	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1098C>T	2.37:g.119600595G>A							p.N366N	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			2	1608	-			366					Q4ZG44	Silent	SNP	ENST00000295206.6	37	c.1098C>T	CCDS2123.1																																																																																				0.617	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			19	17	0	0	0	1	0	19	17				
HTATSF1	27336	broad.mit.edu	37	X	135581814	135581814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135581814G>A	ENST00000218364.4	+	2	418	c.244G>A	c.(244-246)Gca>Aca	p.A82T	HTATSF1_ENST00000535601.1_Missense_Mutation_p.A82T	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	82					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAACGATGGCGCATCTAGTTC	0.448																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(244-246)Gca>Aca		HIV-1 Tat specific factor 1							122.0	120.0	120.0					X																	135581814		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135581814G>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.244G>A	X.37:g.135581814G>A	ENSP00000218364:p.Ala82Thr					HTATSF1_ENST00000218364.4_Missense_Mutation_p.A82T	p.A82T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			3	666	+	Acute lymphoblastic leukemia(192;0.000127)		82					D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.244G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725320	0.30593	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.24908	1.83;1.83	5.14	4.2	0.49525	.	0.232805	0.45126	D	0.000385	T	0.19046	0.0457	L	0.45228	1.405	0.09310	N	0.999995	B	0.34329	0.449	B	0.21917	0.037	T	0.19160	-1.0314	10	0.46703	T	0.11	-16.4346	11.9789	0.53109	0.0:0.0:0.7398:0.2602	.	82	O43719	HTSF1_HUMAN	T	82	ENSP00000442699:A82T;ENSP00000218364:A82T	ENSP00000218364:A82T	A	+	1	0	HTATSF1	135409480	0.874000	0.30092	0.651000	0.29564	0.947000	0.59692	2.129000	0.42055	2.466000	0.83321	0.594000	0.82650	GCA		0.448	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		48	93	0	0	0	1	0	48	93				
ROCK1	6093	broad.mit.edu	37	18	18622660	18622660	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18622660A>G	ENST00000399799.2	-	7	1626	c.686T>C	c.(685-687)gTa>gCa	p.V229A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATCACATCGTACCATGCCTTC	0.373																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(685-687)gTa>gCa		Rho-associated, coiled-coil containing protein kinase 1							86.0	81.0	82.0					18																	18622660		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18622660A>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.686T>C	18.37:g.18622660A>G	ENSP00000382697:p.Val229Ala						p.V229A	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			7	1626	-	Melanoma(1;0.165)		229			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.686T>C	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967864	0.74131	.	.	ENSG00000067900	ENST00000399799	T	0.64438	-0.1	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064020	0.64402	D	0.000009	T	0.66218	0.2767	L	0.28115	0.83	0.80722	D	1	B	0.30455	0.28	P	0.50162	0.633	T	0.70684	-0.4804	10	0.87932	D	0	.	14.8815	0.70537	1.0:0.0:0.0:0.0	.	229	Q13464	ROCK1_HUMAN	A	229	ENSP00000382697:V229A	ENSP00000382697:V229A	V	-	2	0	ROCK1	16876658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.168000	0.68352	0.533000	0.62120	GTA		0.373	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		4	56	0	0	0	1	0	4	56				
NETO1	81832	broad.mit.edu	37	18	70417389	70417389	+	Silent	SNP	C	C	T	rs547454811		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70417389C>T	ENST00000327305.6	-	9	2106	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	NETO1_ENST00000299430.2_Silent_p.S482S|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.S483S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	483					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGCATCTTGCGAGTAGCTGT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18676	0.0		0.001	False		,,,				2504	0.0					ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1447-1449)tcG>tcA		neuropilin (NRP) and tolloid (TLL)-like 1							171.0	147.0	155.0					18																	70417389		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417389C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1449G>A	18.37:g.70417389C>T						NETO1_ENST00000583169.1_Silent_p.S483S|NETO1_ENST00000299430.2_Silent_p.S482S	p.S483S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	2106	-		Esophageal squamous(42;0.129)	483					Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1449G>A	CCDS12000.1																																																																																				0.502	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		20	25	0	0	0	1	0	20	25				
RAP2B	5912	broad.mit.edu	37	3	152880811	152880811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152880811C>T	ENST00000323534.2	+	1	783	c.329C>T	c.(328-330)cCc>cTc	p.P110L	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	110					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAGCGCGTGCCCATGATCCTG	0.632																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(328-330)cCc>cTc		RAP2B, member of RAS oncogene family							94.0	79.0	84.0					3																	152880811		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880811C>T		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.329C>T	3.37:g.152880811C>T	ENSP00000319096:p.Pro110Leu						p.P110L	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	783	+			110					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.329C>T	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197556	0.79015	.	.	ENSG00000181467	ENST00000323534	D	0.83837	-1.77	4.52	4.52	0.55395	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	D	0.88584	0.6476	M	0.82630	2.6	0.80722	D	1	P	0.42078	0.77	P	0.49887	0.625	D	0.90744	0.4652	10	0.87932	D	0	.	16.002	0.80301	0.0:1.0:0.0:0.0	.	110	P61225	RAP2B_HUMAN	L	110	ENSP00000319096:P110L	ENSP00000319096:P110L	P	+	2	0	RAP2B	154363501	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.435000	0.80391	2.330000	0.79161	0.563000	0.77884	CCC		0.632	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		18	32	0	0	0	1	0	18	32				
HIP1R	9026	broad.mit.edu	37	12	123345497	123345497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123345497G>A	ENST00000253083.4	+	29	2926	c.2801G>A	c.(2800-2802)cGc>cAc	p.R934H		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	934	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CACCTGAGCCGCCTGCAGGAA	0.637											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(2800-2802)cGc>cAc		huntingtin interacting protein 1 related							32.0	33.0	32.0					12																	123345497		2203	4300	6503	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123345497G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2801G>A	12.37:g.123345497G>A	ENSP00000253083:p.Arg934His		OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1526		p.R934H	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	29	2926	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		934			I/LWEQ.		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.2801G>A	CCDS31922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.640942|2.640942	0.47153|0.47153	.|.	.|.	ENSG00000130787|ENSG00000130787	ENST00000535012|ENST00000253083	.|T	.|0.46063	.|0.88	5.52|5.52	2.47|2.47	0.30058|0.30058	.|I/LWEQ (4);	.|0.379353	.|0.26836	.|N	.|0.022256	T|T	0.35307|0.35307	0.0927|0.0927	L|L	0.56769|0.56769	1.78|1.78	0.32774|0.32774	N|N	0.50341|0.50341	.|P	.|0.37158	.|0.585	.|B	.|0.36885	.|0.235	T|T	0.47209|0.47209	-0.9135|-0.9135	5|10	.|0.51188	.|T	.|0.08	-22.3654|-22.3654	6.5379|6.5379	0.22365|0.22365	0.4803:0.0:0.5197:0.0|0.4803:0.0:0.5197:0.0	.|.	.|934	.|O75146	.|HIP1R_HUMAN	T|H	63|934	.|ENSP00000253083:R934H	.|ENSP00000253083:R934H	A|R	+|+	1|2	0|0	HIP1R|HIP1R	121911450|121911450	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.745000|0.745000	0.42441|0.42441	-0.027000|-0.027000	0.12371|0.12371	0.578000|0.578000	0.29487|0.29487	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.637	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		5	12	0	0	0	1	0	5	12				
HDGFL1	154150	broad.mit.edu	37	6	22569978	22569978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22569978G>A	ENST00000230012.3	+	1	301	c.174G>A	c.(172-174)ccG>ccA	p.P58P	HDGFL1_ENST00000510882.2_Silent_p.P58P	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	58	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCTGTTCCCGTACAAGGAGT	0.622																																						ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(172-174)ccG>ccA		hepatoma derived growth factor-like 1							63.0	64.0	63.0					6																	22569978		2203	4300	6503	SO:0001819	synonymous_variant	154150							g.chr6:22569978G>A	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.174G>A	6.37:g.22569978G>A						HDGFL1_ENST00000230012.3_Silent_p.P58P	p.P58P			Q5TGJ6	HDGL1_HUMAN			1	184	+	Ovarian(93;0.163)		58			PWWP.		Q96MJ6	Silent	SNP	ENST00000230012.3	37	c.174G>A	CCDS34347.1																																																																																				0.622	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		12	8	0	0	0	1	0	12	8				
C9orf172	389813	broad.mit.edu	37	9	139741114	139741114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741114G>A	ENST00000436881.1	+	1	2248	c.2248G>A	c.(2248-2250)Ggc>Agc	p.G750S	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	750										endometrium(2)|large_intestine(1)|lung(6)	9						GCGCGGCCGCGGCGTGCTCTT	0.687																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2248-2250)Ggc>Agc		chromosome 9 open reading frame 172							9.0	10.0	10.0					9																	139741114		1801	3943	5744	SO:0001583	missense	389813							g.chr9:139741114G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2248G>A	9.37:g.139741114G>A	ENSP00000412388:p.Gly750Ser						p.G750S	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2248	+			750						Missense_Mutation	SNP	ENST00000436881.1	37	c.2248G>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	17.72	3.459239	0.63401	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.11	3.11	0.35812	.	.	.	.	.	T	0.58075	0.2097	M	0.79926	2.475	0.80722	D	1	D	0.59357	0.985	B	0.40199	0.322	T	0.70605	-0.4826	8	0.87932	D	0	-15.3097	13.3535	0.60615	0.0:0.0:1.0:0.0	.	750	C9J069	CI172_HUMAN	S	750	.	ENSP00000412388:G750S	G	+	1	0	C9orf172	138860935	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	6.867000	0.75511	1.573000	0.49748	0.165000	0.16767	GGC		0.687	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		6	8	0	0	0	1	0	6	8				
DCDC1	341019	broad.mit.edu	37	11	30915926	30915926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30915926G>A	ENST00000597505.1	-	33	4761	c.4762C>T	c.(4762-4764)Cga>Tga	p.R1588*	DCDC1_ENST00000406071.2_Nonsense_Mutation_p.R326*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCGCTACTCGCCGCCCTGAG	0.478																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4762-4764)Cga>Tga		doublecortin domain containing 1							54.0	54.0	54.0					11																	30915926		1896	4117	6013	SO:0001587	stop_gained	341019				intracellular signal transduction			g.chr11:30915926G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4762C>T	11.37:g.30915926G>A	ENSP00000472625:p.Arg1588*					DCDC1_ENST00000406071.2_Nonsense_Mutation_p.R326*	p.R1588*			P59894	DCDC1_HUMAN			33	4761	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	ENST00000597505.1	37	c.4762C>T		.	.	.	.	.	.	.	.	.	.	G	15.20	2.762997	0.49574	.	.	ENSG00000170959	ENST00000406071	.	.	.	6.17	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6088	0.28118	0.1439:0.1353:0.7208:0.0	.	.	.	.	X	326	.	ENSP00000385936:R326X	R	-	1	2	DCDC5	30872502	0.988000	0.35896	0.999000	0.59377	0.289000	0.27227	1.989000	0.40707	0.955000	0.37878	-0.136000	0.14681	CGA		0.478	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		8	50	0	0	0	1	0	8	50				
KMT2A	4297	broad.mit.edu	37	11	118392771	118392771	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118392771C>T	ENST00000389506.5	+	36	11794	c.11794C>T	c.(11794-11796)Cgt>Tgt	p.R3932C	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.R3935C|RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.R3894C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3932	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTTTGCCATGCGTAAGATCTA	0.493																																						ENST00000534358.1																			0											c.(11803-11805)Cgt>Tgt		lysine (K)-specific methyltransferase 2A							201.0	159.0	173.0					11																	118392771		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118392771C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11794C>T	11.37:g.118392771C>T	ENSP00000374157:p.Arg3932Cys					RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.R3932C|KMT2A_ENST00000354520.4_Missense_Mutation_p.R3894C|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA	p.R3935C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					36	11826	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11803C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424506	0.62733	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.86497	-2.13;-2.13;-2.13	5.5	5.5	0.81552	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95304	0.8406	10	0.87932	D	0	.	14.431	0.67251	0.1471:0.8529:0.0:0.0	.	3935;3932	E9PQG7;Q03164	.;MLL1_HUMAN	C	3935;3932;3894;2842	ENSP00000436786:R3935C;ENSP00000374157:R3932C;ENSP00000346516:R3894C	ENSP00000346516:R3894C	R	+	1	0	MLL	117897981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.557000	0.60782	2.861000	0.98227	0.655000	0.94253	CGT		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		33	45	0	0	0	1	0	33	45				
MYOF	26509	broad.mit.edu	37	10	95157186	95157186	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95157186C>T	ENST00000359263.4	-	14	1248	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MYOF_ENST00000371502.4_Missense_Mutation_p.A417T|MYOF_ENST00000358334.5_Missense_Mutation_p.A417T|MYOF_ENST00000371501.4_Missense_Mutation_p.A417T|MYOF_ENST00000371489.1_Missense_Mutation_p.A417T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	417	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGGTTTGCATTTTTCTCA	0.294																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1249-1251)Gca>Aca		myoferlin							142.0	130.0	134.0					10																	95157186		1812	4075	5887	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95157186C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1249G>A	10.37:g.95157186C>T	ENSP00000352208:p.Ala417Thr					MYOF_ENST00000371489.1_Missense_Mutation_p.A417T|MYOF_ENST00000359263.4_Missense_Mutation_p.A417T|MYOF_ENST00000358334.5_Missense_Mutation_p.A417T|MYOF_ENST00000371502.4_Missense_Mutation_p.A417T	p.A417T			Q9NZM1	MYOF_HUMAN			14	1371	-			417			C2 3.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.1249G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744709	0.89663	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	4.35	4.35	0.52113	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94876	0.8344	L	0.35542	1.07	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.987;0.99	D	0.92955	0.6384	10	0.19147	T	0.46	-14.851	17.0569	0.86536	0.0:1.0:0.0:0.0	.	399;417;417	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	T	417	ENSP00000351094:A417T;ENSP00000352208:A417T;ENSP00000360556:A417T;ENSP00000360557:A417T;ENSP00000360544:A417T	ENSP00000351094:A417T	A	-	1	0	MYOF	95147176	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.292000	0.78731	2.227000	0.72691	0.313000	0.20887	GCA		0.294	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		4	40	0	0	0	1	0	4	40				
ITGB4	3691	broad.mit.edu	37	17	73746348	73746348	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73746348G>T	ENST00000200181.3	+	28	3660	c.3473G>T	c.(3472-3474)aGg>aTg	p.R1158M	ITGB4_ENST00000339591.3_Splice_Site_p.R1158M|ITGB4_ENST00000450894.3_Splice_Site_p.R1158M|ITGB4_ENST00000579662.1_Splice_Site_p.R1158M|ITGB4_ENST00000449880.2_Splice_Site_p.R1158M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1158	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGGGGTACAGGGTAAGGCGG	0.657											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.e28+1		integrin, beta 4							22.0	23.0	23.0					17																	73746348		2203	4300	6503	SO:0001630	splice_region_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73746348G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3474+1G>T	17.37:g.73746348G>T			OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1147	ITGB4_ENST00000450894.3_Splice_Site_p.R1158_splice|ITGB4_ENST00000449880.2_Splice_Site_p.R1158_splice|ITGB4_ENST00000339591.3_Splice_Site_p.R1158_splice|ITGB4_ENST00000579662.1_Splice_Site_p.R1158_splice	p.R1158_splice	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		28	3660	+	all_cancers(13;1.5e-07)		1158			Fibronectin type-III 1.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	ENST00000200181.3	37	c.3474_splice	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391048	0.42410	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.59224	0.28;0.28;0.28	5.66	3.48	0.39840	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119854	0.56097	D	0.000036	T	0.60457	0.2270	M	0.70595	2.14	0.44523	D	0.997474	B;P;P	0.48694	0.447;0.914;0.547	B;P;B	0.50049	0.131;0.629;0.296	T	0.63470	-0.6630	10	0.87932	D	0	.	5.5234	0.16945	0.4173:0.0:0.5827:0.0	.	1158;1158;1158	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	M	1158	ENSP00000200181:R1158M;ENSP00000344079:R1158M;ENSP00000400217:R1158M	ENSP00000200181:R1158M	R	+	2	0	ITGB4	71257943	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.182000	0.58310	1.329000	0.45376	0.655000	0.94253	AGG		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		Missense_Mutation	4	15	1	0	0.00909568	1	0.00947522	4	15				
CEACAM8	1088	broad.mit.edu	37	19	43093759	43093759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43093759G>A	ENST00000244336.5	-	3	654	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	185	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L185I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGACCGGGAGACTCTGACCA	0.527																																						ENST00000244336.5																			1	Substitution - Missense(1)	p.L185I(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(553-555)Ctc>Ttc		carcinoembryonic antigen-related cell adhesion molecule 8							239.0	210.0	220.0					19																	43093759		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43093759G>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.553C>T	19.37:g.43093759G>A	ENSP00000244336:p.Leu185Phe					LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	p.L185F	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			3	654	-		Prostate(69;0.00899)	185			Ig-like C2-type 1.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.553C>T	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	g	13.07	2.126134	0.37533	.	.	ENSG00000124469	ENST00000244336	T	0.52983	0.64	2.46	1.23	0.21249	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65719	0.2718	M	0.89904	3.07	0.09310	N	1	D	0.53619	0.961	P	0.59221	0.854	T	0.53753	-0.8394	9	0.87932	D	0	.	6.3657	0.21453	0.0:0.3131:0.6869:0.0	.	185	P31997	CEAM8_HUMAN	F	185	ENSP00000244336:L185F	ENSP00000244336:L185F	L	-	1	0	CEACAM8	47785599	0.001000	0.12720	0.011000	0.14972	0.077000	0.17291	0.101000	0.15251	1.387000	0.46486	0.313000	0.20887	CTC		0.527	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			70	98	0	0	0	1	0	70	98				
TTC29	83894	broad.mit.edu	37	4	147741308	147741308	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147741308C>T	ENST00000325106.4	-	10	1296	c.1070G>A	c.(1069-1071)aGt>aAt	p.S357N	TTC29_ENST00000513335.1_Missense_Mutation_p.S383N|TTC29_ENST00000398886.4_Missense_Mutation_p.S383N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	357										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAGCATTGTACTTGCTCTCAC	0.338																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(1147-1149)aGt>aAt		tetratricopeptide repeat domain 29							152.0	146.0	148.0					4																	147741308		1829	4082	5911	SO:0001583	missense	83894						binding	g.chr4:147741308C>T	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1070G>A	4.37:g.147741308C>T	ENSP00000316740:p.Ser357Asn					TTC29_ENST00000325106.4_Missense_Mutation_p.S357N|TTC29_ENST00000398886.4_Missense_Mutation_p.S383N	p.S383N			Q8NA56	TTC29_HUMAN			11	1347	-	all_hematologic(180;0.151)		357					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.1148G>A	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544690	0.45280	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.282110	0.44483	D	0.000446	D	0.88028	0.6327	L	0.29908	0.895	0.22710	N	0.998826	B;B;B	0.19706	0.038;0.019;0.038	B;B;B	0.20384	0.029;0.008;0.029	T	0.75230	-0.3391	10	0.27785	T	0.31	-9.7733	11.5337	0.50624	0.0:0.8625:0.0:0.1375	.	357;383;357	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	383;383;357;357	ENSP00000423505:S383N;ENSP00000381861:S383N;ENSP00000316740:S357N;ENSP00000425778:S357N	ENSP00000316740:S357N	S	-	2	0	TTC29	147960758	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.653000	0.46691	2.803000	0.96430	0.650000	0.86243	AGT		0.338	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		5	88	0	0	0	1	0	5	88				
RABGAP1L	9910	broad.mit.edu	37	1	174671315	174671315	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174671315C>A	ENST00000251507.4	+	17	2264	c.2090C>A	c.(2089-2091)tCc>tAc	p.S697Y	RABGAP1L_ENST00000347255.2_Missense_Mutation_p.S24Y|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.S23Y|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.S4Y|RABGAP1L_ENST00000367686.3_3'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGTATGCATCCCAGTGGTTT	0.438																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(2089-2091)tCc>tAc		RAB GTPase activating protein 1-like							166.0	148.0	154.0					1																	174671315		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174671315C>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2090C>A	1.37:g.174671315C>A	ENSP00000251507:p.Ser697Tyr					RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.S24Y|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.S23Y|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.S4Y	p.S697Y	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			17	2264	+			697			Rab-GAP TBC.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.2090C>A	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172628	0.94807	.	.	ENSG00000152061	ENST00000251507;ENST00000367692;ENST00000325589;ENST00000367687;ENST00000347255	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.8	5.8	0.92144	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.70389	-0.4885	10	0.87932	D	0	.	20.0567	0.97653	0.0:1.0:0.0:0.0	.	23;24;697	Q5R372-6;Q5R372-5;Q5R372	.;.;RBG1L_HUMAN	Y	697;709;4;23;24	ENSP00000251507:S697Y;ENSP00000318603:S4Y;ENSP00000356660:S23Y;ENSP00000281844:S24Y	ENSP00000251507:S697Y	S	+	2	0	RABGAP1L	172937938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.752000	0.94435	0.650000	0.86243	TCC		0.438	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		40	53	1	0	6.1244e-12	1	7.67368e-12	40	53				
GPR116	221395	broad.mit.edu	37	6	46826266	46826266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826266G>A	ENST00000283296.7	-	17	3662	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F	GPR116_ENST00000456426.2_Missense_Mutation_p.S983F|GPR116_ENST00000362015.4_Missense_Mutation_p.S1125F|GPR116_ENST00000545669.1_Missense_Mutation_p.S554F|GPR116_ENST00000265417.7_Missense_Mutation_p.S1125F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1125					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTGAGTGGACCTGCTTGT	0.537																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3373-3375)tCc>tTc		G protein-coupled receptor 116							41.0	42.0	42.0					6																	46826266		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826266G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3374C>T	6.37:g.46826266G>A	ENSP00000283296:p.Ser1125Phe					GPR116_ENST00000265417.7_Missense_Mutation_p.S1125F|GPR116_ENST00000456426.2_Missense_Mutation_p.S983F|GPR116_ENST00000362015.4_Missense_Mutation_p.S1125F|GPR116_ENST00000545669.1_Missense_Mutation_p.S554F	p.S1125F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3662	-			1125					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3374C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711815	0.48517	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.38	5.38	0.77491	GPCR, family 2-like (1);	0.107611	0.42172	D	0.000749	T	0.47820	0.1466	L	0.58810	1.83	0.41740	D	0.9896	D;D;D;D;D	0.76494	0.998;0.997;0.999;0.997;0.999	D;D;D;D;D	0.73708	0.953;0.979;0.981;0.964;0.981	T	0.47509	-0.9112	10	0.72032	D	0.01	-17.4826	14.3546	0.66727	0.0:0.0:0.852:0.148	.	554;680;1125;983;1125	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	F	1125;1125;1125;983;496;1125;554	ENSP00000283296:S1125F;ENSP00000354563:S1125F;ENSP00000412866:S983F;ENSP00000265417:S1125F;ENSP00000441581:S554F	ENSP00000265417:S1125F	S	-	2	0	GPR116	46934225	0.995000	0.38212	0.998000	0.56505	0.538000	0.34931	2.491000	0.45303	2.679000	0.91253	0.650000	0.86243	TCC		0.537	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		11	20	0	0	0	1	0	11	20				
MAGI1	9223	broad.mit.edu	37	3	65369212	65369212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65369212C>T	ENST00000497477.2	-	15	2502	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	MAGI1_ENST00000330909.8_Missense_Mutation_p.E863K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E863K|MAGI1_ENST00000402939.2_Missense_Mutation_p.E835K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	863	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCACAGGTTCCCCTGGTTCA	0.448																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2587-2589)Gaa>Aaa		membrane associated guanylate kinase, WW and PDZ domain containing 1							119.0	127.0	124.0					3																	65369212		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65369212C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2503G>A	3.37:g.65369212C>T	ENSP00000424369:p.Glu835Lys					MAGI1_ENST00000483466.1_Missense_Mutation_p.E863K|MAGI1_ENST00000402939.2_Missense_Mutation_p.E835K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E835K	p.E863K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	16	2586	-		Lung NSC(201;0.0016)	863			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2587G>A		.	.	.	.	.	.	.	.	.	.	C	26.7	4.764649	0.90020	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.41	5.41	0.78517	.	0.096277	0.64402	D	0.000001	T	0.34948	0.0915	N	0.17872	0.535	0.80722	D	1	P;P;D;P;P	0.69078	0.87;0.853;0.997;0.925;0.923	P;P;D;P;P	0.67548	0.674;0.601;0.952;0.561;0.578	T	0.05321	-1.0892	10	0.17832	T	0.49	-13.1364	19.5431	0.95282	0.0:1.0:0.0:0.0	.	863;835;863;835;863	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.;.	K	835;863;759;738;863;835;621	ENSP00000385450:E835K;ENSP00000331157:E863K;ENSP00000418177:E738K;ENSP00000420323:E863K;ENSP00000424369:E835K;ENSP00000420796:E621K	ENSP00000331157:E863K	E	-	1	0	MAGI1	65344252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.697000	0.92050	0.655000	0.94253	GAA		0.448	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		33	27	0	0	0	1	0	33	27				
LINC00477	144360	broad.mit.edu	37	12	24736568	24736568	+	lincRNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:24736568A>T	ENST00000483544.1	-	0	534					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											AAGGAAAAAAAGGGGGCCCAG	0.547																																						ENST00000483544.1																			0																				42.0	51.0	48.0					12																	24736568		2203	4300	6503			0							g.chr12:24736568A>T	AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736568A>T								NR_029451.2						0	534	-									RNA	SNP	ENST00000483544.1	37																																																																																						0.547	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667		34	55	0	0	0	1	0	34	55				
NOS1AP	9722	broad.mit.edu	37	1	162326911	162326911	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162326911A>G	ENST00000361897.5	+	8	1326	c.924A>G	c.(922-924)caA>caG	p.Q308Q	NOS1AP_ENST00000530878.1_Silent_p.Q303Q	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	308	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCAGACACAAGTGGCTGTGG	0.632																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(922-924)caA>caG		nitric oxide synthase 1 (neuronal) adaptor protein							31.0	30.0	30.0					1																	162326911		2202	4299	6501	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326911A>G	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.924A>G	1.37:g.162326911A>G						NOS1AP_ENST00000530878.1_Silent_p.Q303Q	p.Q308Q	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1326	+	all_hematologic(112;0.203)		308			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.924A>G	CCDS1237.1																																																																																				0.632	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		4	38	0	0	0	1	0	4	38				
AGPS	8540	broad.mit.edu	37	2	178326678	178326678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178326678G>A	ENST00000264167.4	+	9	1074	c.928G>A	c.(928-930)Gta>Ata	p.V310I	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	310	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTTCAGTACTGTAGGAGGATG	0.358																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(928-930)Gta>Ata		alkylglycerone phosphate synthase							96.0	93.0	94.0					2																	178326678		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178326678G>A	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.928G>A	2.37:g.178326678G>A	ENSP00000264167:p.Val310Ile					AGPS_ENST00000409888.1_Intron	p.V310I	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		9	1074	+			310			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.928G>A	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022595	0.54683	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.97066	-4.23	5.76	1.52	0.23074	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.301196	0.31601	N	0.007371	D	0.88463	0.6443	N	0.04245	-0.25	0.80722	D	1	B	0.13594	0.008	B	0.15052	0.012	T	0.78198	-0.2297	10	0.41790	T	0.15	.	3.45	0.07494	0.0769:0.3026:0.2891:0.3315	.	310	O00116	ADAS_HUMAN	I	310;180	ENSP00000264167:V310I	ENSP00000264167:V310I	V	+	1	0	AGPS	178034924	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	1.841000	0.39240	0.294000	0.22547	0.655000	0.94253	GTA		0.358	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			8	53	0	0	0	1	0	8	53				
TBC1D9	23158	broad.mit.edu	37	4	141592001	141592001	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141592001A>G	ENST00000442267.2	-	7	1213	c.1139T>C	c.(1138-1140)tTc>tCc	p.F380S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	380							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGCAAATAGGAAGGTCATCCT	0.443																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1138-1140)tTc>tCc		TBC1 domain family, member 9 (with GRAM domain)							168.0	169.0	169.0					4																	141592001		1929	4146	6075	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141592001A>G	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1139T>C	4.37:g.141592001A>G	ENSP00000411197:p.Phe380Ser						p.F380S	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			7	1213	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	380					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1139T>C	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.880973	0.91740	.	.	ENSG00000109436	ENST00000442267	T	0.12147	2.71	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	M	0.79805	2.47	0.80722	D	1	D	0.62365	0.991	D	0.73380	0.98	T	0.33803	-0.9854	10	0.62326	D	0.03	-10.646	15.8296	0.78741	1.0:0.0:0.0:0.0	.	380	Q6ZT07	TBCD9_HUMAN	S	380	ENSP00000411197:F380S	ENSP00000411197:F380S	F	-	2	0	TBC1D9	141811451	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.255000	0.95524	2.182000	0.69389	0.528000	0.53228	TTC		0.443	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		5	138	0	0	0	1	0	5	138				
ADRBK1	156	broad.mit.edu	37	11	67047315	67047315	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67047315C>T	ENST00000308595.5	+	6	737	c.447C>T	c.(445-447)taC>taT	p.Y149Y	ADRBK1_ENST00000526285.1_Silent_p.Y149Y	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	149	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTTAGCCATACATCGAAGAGA	0.592																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(445-447)taC>taT		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						87.0	88.0	88.0					11																	67047315		2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67047315C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.447C>T	11.37:g.67047315C>T						ADRBK1_ENST00000526285.1_Silent_p.Y149Y	p.Y149Y	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		6	737	+			149			N-terminal.|RGS.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.447C>T	CCDS8156.1																																																																																				0.592	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		21	31	0	0	0	1	0	21	31				
TBX6	6911	broad.mit.edu	37	16	30097613	30097613	+	Missense_Mutation	SNP	C	C	T	rs563504411		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30097613C>T	ENST00000395224.2	-	9	1303	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	TBX6_ENST00000279386.2_Missense_Mutation_p.G415D	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	415					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGGAAGGGGCCCCCTTGGAG	0.642																																						ENST00000395224.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(1243-1245)gGc>gAc		T-box 6							35.0	40.0	38.0					16																	30097613		2197	4300	6497	SO:0001583	missense	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30097613C>T	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.1244G>A	16.37:g.30097613C>T	ENSP00000378650:p.Gly415Asp					TBX6_ENST00000279386.2_Missense_Mutation_p.G415D	p.G415D	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN			9	1303	-			415					Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.1244G>A	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618110	0.46736	.	.	ENSG00000149922	ENST00000395224;ENST00000279386	D;D	0.86097	-2.07;-2.07	4.69	3.73	0.42828	.	0.872598	0.09852	N	0.747434	T	0.73567	0.3603	N	0.19112	0.55	0.37205	D	0.904565	P	0.38195	0.622	B	0.29862	0.108	T	0.72374	-0.4313	10	0.56958	D	0.05	.	10.9348	0.47239	0.0:0.8115:0.1885:0.0	.	415	O95947	TBX6_HUMAN	D	415	ENSP00000378650:G415D;ENSP00000279386:G415D	ENSP00000279386:G415D	G	-	2	0	TBX6	30005114	0.668000	0.27493	1.000000	0.80357	0.790000	0.44656	1.856000	0.39389	1.190000	0.43042	0.549000	0.68633	GGC		0.642	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		19	19	0	0	0	1	0	19	19				
ADAMTS13	11093	broad.mit.edu	37	9	136324099	136324099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136324099C>T	ENST00000371929.3	+	29	4525	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1305W|CACFD1_ENST00000542192.1_5'Flank|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R157W|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1274W|CACFD1_ENST00000540581.1_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1361	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTCAGATCCGGGACACCCA	0.572																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4081-4083)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							30.0	29.0	30.0					9																	136324099		2203	4299	6502	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324099C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4081C>T	9.37:g.136324099C>T	ENSP00000360997:p.Arg1361Trp					ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1274W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1305W|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R157W	p.R1361W	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4525	+			1361			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.4081C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912773	0.72983	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.78	3.84	0.44239	CUB (1);	.	.	.	.	T	0.65471	0.2694	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	T	0.67264	-0.5714	9	0.87932	D	0	.	9.8749	0.41197	0.2134:0.7866:0.0:0.0	.	1361;1274;1305	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	W	1361;1305;1274;157	ENSP00000360997:R1361W;ENSP00000347927:R1305W;ENSP00000348997:R1274W;ENSP00000360978:R157W	ENSP00000347927:R1305W	R	+	1	2	ADAMTS13	135313920	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.129000	0.42055	0.920000	0.36970	0.650000	0.86243	CGG		0.572	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		9	14	0	0	0	1	0	9	14				
DIS3L2	129563	broad.mit.edu	37	2	233199425	233199425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233199425C>T	ENST00000409307.1	+	18	2374	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*	DIS3L2_ENST00000325385.7_Nonsense_Mutation_p.Q792*|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTACGGCGTGCAGAAGCGCAT	0.657																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(2374-2376)Cag>Tag		DIS3 mitotic control homolog (S. cerevisiae)-like 2							53.0	56.0	55.0					2																	233199425		2163	4253	6416	SO:0001587	stop_gained	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233199425C>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2374C>T	2.37:g.233199425C>T	ENSP00000386799:p.Gln792*					DIS3L2_ENST00000409307.1_Nonsense_Mutation_p.Q792*|DIS3L2_ENST00000273009.6_Intron	p.Q792*	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	19	2650	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	792						Nonsense_Mutation	SNP	ENST00000409307.1	37	c.2374C>T	CCDS42834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	43|43	10.359194|10.359194	0.99390|0.99390	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000418143|ENST00000325385;ENST00000409307	.|.	.|.	.|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|0.227187	.|0.38058	.|N	.|0.001833	T|.	0.71204|.	0.3312|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71755|.	-0.4497|.	4|.	.|0.37606	.|T	.|0.19	-10.1611|-10.1611	16.2773|16.2773	0.82651|0.82651	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	19|792	.|.	.|ENSP00000315569:Q792X	A|Q	+|+	2|1	0|0	DIS3L2|DIS3L2	232907669|232907669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.951000|5.951000	0.70273|0.70273	1.999000|1.999000	0.58509|0.58509	0.549000|0.549000	0.68633|0.68633	GCA|CAG		0.657	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		5	13	0	0	0	1	0	5	13				
ZP2	7783	broad.mit.edu	37	16	21210953	21210953	+	Missense_Mutation	SNP	C	C	T	rs369576343		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21210953C>T	ENST00000574002.1	-	17	2347	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	ZP2_ENST00000219593.4_Missense_Mutation_p.R622Q|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.R613Q			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	622	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGGGAGAGTCGATTACAGAT	0.478																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1864-1866)cGa>cAa		zona pellucida glycoprotein 2 (sperm receptor)		C	GLN/ARG	1,4399		0,1,2199	138.0	131.0	134.0		1865	-3.5	0.0	16		134	0,8600		0,0,4300	no	missense	ZP2	NM_003460.1	43	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign	622/746	21210953	1,12999	2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21210953C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1865G>A	16.37:g.21210953C>T	ENSP00000460971:p.Arg622Gln					ZP2_ENST00000574091.1_Missense_Mutation_p.R613Q|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.R622Q	p.R622Q			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	17	2347	-			622			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1865G>A	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667855	0.14710	2.27E-4	0.0	ENSG00000103310	ENST00000219593	D	0.81996	-1.56	5.73	-3.54	0.04653	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	1.014620	0.07899	N	0.972437	T	0.57888	0.2084	N	0.03194	-0.395	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.22753	0.041;0.041	T	0.51188	-0.8737	10	0.07030	T	0.85	0.6664	8.7754	0.34758	0.1107:0.514:0.0:0.3753	.	613;622	Q4VAP1;Q05996	.;ZP2_HUMAN	Q	622	ENSP00000219593:R622Q	ENSP00000219593:R622Q	R	-	2	0	ZP2	21118454	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-1.583000	0.02115	-0.757000	0.04697	-0.496000	0.04628	CGA		0.478	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			18	20	0	0	0	1	0	18	20				
C12orf60	144608	broad.mit.edu	37	12	14976519	14976519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14976519C>T	ENST00000330828.2	+	2	854	c.650C>T	c.(649-651)gCt>gTt	p.A217V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	217										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATTGTCAAGGCTATGGGACCA	0.383																																						ENST00000330828.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						c.(649-651)gCt>gTt		chromosome 12 open reading frame 60							49.0	48.0	49.0					12																	14976519		2197	4293	6490	SO:0001583	missense	144608							g.chr12:14976519C>T	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.650C>T	12.37:g.14976519C>T	ENSP00000331691:p.Ala217Val					C12orf60_ENST00000527783.1_Intron	p.A217V	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN			2	854	+			217					A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	c.650C>T	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072693	0.20147	.	.	ENSG00000182993	ENST00000330828	T	0.18502	2.21	4.36	1.31	0.21738	.	1.535410	0.04076	N	0.308876	T	0.10508	0.0257	N	0.19112	0.55	0.09310	N	1	B	0.32829	0.386	B	0.31101	0.124	T	0.27673	-1.0067	10	0.10377	T	0.69	-21.532	7.0467	0.25050	0.377:0.4613:0.1616:0.0	.	217	Q5U649	CL060_HUMAN	V	217	ENSP00000331691:A217V	ENSP00000331691:A217V	A	+	2	0	C12orf60	14867786	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	-0.298000	0.08265	0.142000	0.18901	-0.397000	0.06425	GCT		0.383	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		5	43	0	0	0	1	0	5	43				
ZNF462	58499	broad.mit.edu	37	9	109690567	109690567	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690567A>G	ENST00000277225.5	+	3	4663	c.4374A>G	c.(4372-4374)ctA>ctG	p.L1458L	ZNF462_ENST00000457913.1_Silent_p.L1458L|ZNF462_ENST00000441147.2_Silent_p.L303L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1458					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCTGCAGCTAGCTTCAGCCA	0.522																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(4372-4374)ctA>ctG		zinc finger protein 462							48.0	50.0	50.0					9																	109690567		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690567A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4374A>G	9.37:g.109690567A>G						ZNF462_ENST00000441147.2_Silent_p.L303L|ZNF462_ENST00000457913.1_Silent_p.L1458L	p.L1458L			Q96JM2	ZN462_HUMAN			3	4663	+			1458					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.4374A>G	CCDS35096.1																																																																																				0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	15	0	0	0	1	0	4	15				
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	G	A	rs189208692	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388													G|||	2	0.000399361	0.0	0.0014	5008	,	,		23579	0.001		0.0	False		,,,				2504	0.0					ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2713-2715)aaC>aaT		activity-dependent neuroprotector homeobox							151.0	151.0	151.0					20																	49508536		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508536G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2715C>T	20.37:g.49508536G>A						ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N	p.N905N	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3282	-			905					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.2715C>T	CCDS13433.1																																																																																				0.388	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		68	104	0	0	0	1	0	68	104				
NXPH4	11247	broad.mit.edu	37	12	57619494	57619494	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57619494C>T	ENST00000349394.5	+	2	1066	c.891C>T	c.(889-891)gaC>gaT	p.D297D	Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	297	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTGCCCAGACTATAACTTCC	0.577																																						ENST00000349394.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(889-891)gaC>gaT		neurexophilin 4							59.0	66.0	64.0					12																	57619494		2203	4299	6502	SO:0001819	synonymous_variant	11247				neuropeptide signaling pathway	extracellular region		g.chr12:57619494C>T	AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.891C>T	12.37:g.57619494C>T							p.D297D	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN			2	1066	+			297			V (Cys-rich).		A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	c.891C>T	CCDS8933.1																																																																																				0.577	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		14	21	0	0	0	1	0	14	21				
GPN1	11321	broad.mit.edu	37	2	27861864	27861864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861864G>A	ENST00000610189.1	+	9	690	c.683G>A	c.(682-684)aGc>aAc	p.S228N	GPN1_ENST00000424214.1_Missense_Mutation_p.S149N|GPN1_ENST00000264718.3_Missense_Mutation_p.S242N|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000503738.1_Missense_Mutation_p.S133N|GPN1_ENST00000458167.2_Missense_Mutation_p.S133N|GPN1_ENST00000407583.3_Missense_Mutation_p.S216N|GPN1_ENST00000515877.1_Missense_Mutation_p.S149N	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						CGTTCAATGAGCCTGGTGTTA	0.453																																						ENST00000264718.3																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.(724-726)aGc>aAc		GPN-loop GTPase 1							101.0	93.0	96.0					2																	27861864		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861864G>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.683G>A	2.37:g.27861864G>A	ENSP00000476446:p.Ser228Asn					GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.S133N|GPN1_ENST00000515877.1_Missense_Mutation_p.S149N|GPN1_ENST00000424214.1_Missense_Mutation_p.S149N|GPN1_ENST00000503738.1_Missense_Mutation_p.S133N|GPN1_ENST00000407583.3_Missense_Mutation_p.S216N	p.S242N	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN			9	746	+			228						Missense_Mutation	SNP	ENST00000610189.1	37	c.725G>A		.	.	.	.	.	.	.	.	.	.	G	29.9	5.045980	0.93685	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.42632	1.34	0.80722	D	1	B;P;P;P	0.48294	0.179;0.908;0.885;0.843	P;P;P;P	0.56343	0.599;0.796;0.665;0.705	T	0.04053	-1.0981	10	0.59425	D	0.04	-4.8967	16.8827	0.86067	0.0:0.0:1.0:0.0	.	228;242;133;216	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	N	149;133;133;149;216;242	ENSP00000424678:S149N;ENSP00000427269:S133N;ENSP00000412170:S133N;ENSP00000398115:S149N;ENSP00000384255:S216N;ENSP00000264718:S242N	ENSP00000264718:S242N	S	+	2	0	GPN1	27715368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.102000	0.94226	2.773000	0.95371	0.655000	0.94253	AGC		0.453	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		27	51	0	0	0	1	0	27	51				
CASP1	834	broad.mit.edu	37	11	104897026	104897026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897026C>T	ENST00000533400.1	-	9	1209	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	CASP1_ENST00000415981.2_Missense_Mutation_p.V76M|CASP1_ENST00000393136.4_Missense_Mutation_p.V371M|CASP1_ENST00000534497.1_Missense_Mutation_p.V251M|CASP1_ENST00000527979.1_Missense_Mutation_p.V355M|CASP1_ENST00000526568.1_Missense_Mutation_p.V299M|CASP1_ENST00000531166.1_Missense_Mutation_p.V76M|CASP1_ENST00000446369.1_Missense_Mutation_p.V251M|CASP1_ENST00000525825.1_Missense_Mutation_p.V371M|CASP1_ENST00000598974.1_Missense_Mutation_p.V392M|CASP1_ENST00000593315.1_Missense_Mutation_p.V371M|CASP1_ENST00000436863.3_Missense_Mutation_p.V392M|CASP1_ENST00000353247.5_Missense_Mutation_p.V76M|CASP1_ENST00000594519.1_Missense_Mutation_p.V251M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	392					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GTCAAAGTCACTCTTTCAGTG	0.443																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1174-1176)Gtg>Atg		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						94.0	92.0	93.0					11																	104897026		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897026C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1174G>A	11.37:g.104897026C>T	ENSP00000433138:p.Val392Met					CASP1_ENST00000531166.1_Missense_Mutation_p.V76M|CASP1_ENST00000598974.1_Missense_Mutation_p.V392M|CASP1_ENST00000393136.4_Missense_Mutation_p.V371M|CASP1_ENST00000525825.1_Missense_Mutation_p.V371M|CASP1_ENST00000534497.1_Missense_Mutation_p.V251M|CASP1_ENST00000594519.1_Missense_Mutation_p.V251M|CASP1_ENST00000353247.5_Missense_Mutation_p.V76M|CASP1_ENST00000527979.1_Missense_Mutation_p.V355M|CASP1_ENST00000593315.1_Missense_Mutation_p.V371M|CASP1_ENST00000446369.1_Missense_Mutation_p.V251M|CASP1_ENST00000526568.1_Missense_Mutation_p.V299M|CASP1_ENST00000415981.2_Missense_Mutation_p.V76M|CASP1_ENST00000436863.3_Missense_Mutation_p.V392M	p.V392M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	9	1209	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	392					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.1174G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	6.224	0.409449	0.11812	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T	0.44083	2.02;2.02;2.02;2.02;2.02;0.93;2.02;2.02;2.02;2.02;0.93	4.2	3.15	0.36227	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.597427	0.17288	N	0.179762	T	0.33644	0.0870	M	0.69185	2.1	0.09310	N	0.999999	P;P;P;P;P;P	0.43169	0.525;0.717;0.762;0.8;0.762;0.745	B;B;B;B;B;B	0.37346	0.164;0.243;0.16;0.247;0.16;0.223	T	0.14144	-1.0483	10	0.15499	T	0.54	.	6.637	0.22889	0.0:0.761:0.0:0.239	.	76;251;371;392;355;299	P29466-5;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	M	299;355;392;392;76;251;76;371;371;76;251	ENSP00000434250:V299M;ENSP00000432340:V355M;ENSP00000433138:V392M;ENSP00000410076:V392M;ENSP00000408446:V76M;ENSP00000403260:V251M;ENSP00000344132:V76M;ENSP00000376844:V371M;ENSP00000434779:V371M;ENSP00000434303:V76M;ENSP00000436875:V251M	ENSP00000344132:V76M	V	-	1	0	CASP1	104402236	0.000000	0.05858	0.710000	0.30468	0.133000	0.20885	0.107000	0.15375	0.944000	0.37579	0.460000	0.39030	GTG		0.443	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		36	49	0	0	0	1	0	36	49				
CENPC	1060	broad.mit.edu	37	4	68379857	68379857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68379857C>T	ENST00000273853.6	-	8	1629	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	460					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TTCCATATTTCTGTCTGAATT	0.358																																						ENST00000273853.6																			0											c.(1378-1380)aGa>aAa		centromere protein C							87.0	78.0	81.0					4																	68379857		1836	4093	5929	SO:0001583	missense	1060							g.chr4:68379857C>T	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1379G>A	4.37:g.68379857C>T	ENSP00000273853:p.Arg460Lys						p.R460K	NM_001812.2	NP_001803.2					8	1629	-								Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.1379G>A	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342564	0.24339	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.5	-0.00521	0.14018	.	1.040440	0.07559	N	0.916791	T	0.19127	0.0459	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.29058	-1.0024	9	0.15952	T	0.53	-0.7932	3.1249	0.06403	0.1868:0.4194:0.0:0.3938	.	460;460	Q8IW27;Q03188	.;CENPC_HUMAN	K	460	.	ENSP00000273853:R460K	R	-	2	0	CENPC1	68062452	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.127000	0.10547	-0.104000	0.12154	-0.367000	0.07326	AGA		0.358	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			6	12	0	0	0	1	0	6	12				
ENPEP	2028	broad.mit.edu	37	4	111441427	111441427	+	Silent	SNP	T	T	C	rs572030500		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111441427T>C	ENST00000265162.5	+	10	1974	c.1632T>C	c.(1630-1632)taT>taC	p.Y544Y	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	544					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AGATGGGTTATCCTGTGCTTA	0.423																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1630-1632)taT>taC		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						133.0	123.0	126.0					4																	111441427		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441427T>C	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1632T>C	4.37:g.111441427T>C							p.Y544Y	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	10	1974	+		Hepatocellular(203;0.217)	544					Q504U2	Silent	SNP	ENST00000265162.5	37	c.1632T>C	CCDS3691.1																																																																																				0.423	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			10	91	0	0	0	1	0	10	91				
NCOA6	23054	broad.mit.edu	37	20	33342588	33342588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33342588C>T	ENST00000374796.2	-	9	4182	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	NCOA6_ENST00000359003.2_Missense_Mutation_p.A538T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	538	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGGGTGGTTGCTGTGGTCGAA	0.483																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(1612-1614)Gca>Aca		nuclear receptor coactivator 6							116.0	108.0	111.0					20																	33342588		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33342588C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1612G>A	20.37:g.33342588C>T	ENSP00000363929:p.Ala538Thr					NCOA6_ENST00000359003.2_Missense_Mutation_p.A538T	p.A538T			Q14686	NCOA6_HUMAN			9	4182	-			538			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1612G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049883	0.55218	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25085	1.82;1.82	5.97	1.41	0.22369	.	0.284445	0.30538	N	0.009418	T	0.13543	0.0328	N	0.19112	0.55	0.33392	D	0.576293	B	0.06786	0.001	B	0.06405	0.002	T	0.11518	-1.0584	10	0.31617	T	0.26	-3.6464	7.4776	0.27385	0.0942:0.5303:0.297:0.0784	.	538	Q14686	NCOA6_HUMAN	T	538	ENSP00000363929:A538T;ENSP00000351894:A538T	ENSP00000351894:A538T	A	-	1	0	NCOA6	32806249	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.750000	0.26334	0.749000	0.32854	0.591000	0.81541	GCA		0.483	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	59	0	0	0	1	0	3	59				
OR5AK2	390181	broad.mit.edu	37	11	56756428	56756428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56756428C>A	ENST00000326855.2	+	1	82	c.40C>A	c.(40-42)Ctt>Att	p.L14I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGAATTCTATCTTCTGGGATT	0.403																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(40-42)Ctt>Att		olfactory receptor, family 5, subfamily AK, member 2							143.0	137.0	139.0					11																	56756428		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756428C>A	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.40C>A	11.37:g.56756428C>A	ENSP00000322784:p.Leu14Ile						p.L14I	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	82	+			14					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.40C>A	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075307	0.20227	.	.	ENSG00000181273	ENST00000326855	T	0.00561	6.59	3.85	2.91	0.33838	.	0.000000	0.35838	N	0.002950	T	0.01765	0.0056	M	0.81239	2.535	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31251	-0.9950	10	0.72032	D	0.01	-39.3349	6.6079	0.22735	0.1821:0.7187:0.0:0.0992	.	14	Q8NH90	O5AK2_HUMAN	I	14	ENSP00000322784:L14I	ENSP00000322784:L14I	L	+	1	0	OR5AK2	56513004	0.024000	0.19004	0.021000	0.16686	0.048000	0.14542	0.409000	0.21082	0.941000	0.37499	0.194000	0.17425	CTT		0.403	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		101	92	1	0	1.85599e-38	1	2.50149e-38	101	92				
SMC5	23137	broad.mit.edu	37	9	72967143	72967143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72967143G>A	ENST00000361138.5	+	25	3260	c.3202G>A	c.(3202-3204)Gtt>Att	p.V1068I	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1068					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAGATGACAGTTTTGTTTGT	0.378																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(3202-3204)Gtt>Att		structural maintenance of chromosomes 5							97.0	100.0	99.0					9																	72967143		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72967143G>A	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.3202G>A	9.37:g.72967143G>A	ENSP00000354957:p.Val1068Ile					SMC5_ENST00000471372.1_3'UTR	p.V1068I	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			25	3260	+			1068					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.3202G>A	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399150	0.62177	.	.	ENSG00000198887	ENST00000361138	T	0.22336	1.96	5.48	5.48	0.80851	.	0.121238	0.56097	D	0.000029	T	0.23886	0.0578	L	0.50847	1.595	0.51767	D	0.999935	P	0.38148	0.62	B	0.40702	0.338	T	0.01739	-1.1284	10	0.17369	T	0.5	-14.1734	16.0559	0.80805	0.0:0.0:0.8655:0.1345	.	1068	Q8IY18	SMC5_HUMAN	I	1068	ENSP00000354957:V1068I	ENSP00000354957:V1068I	V	+	1	0	SMC5	72156963	0.989000	0.36119	0.093000	0.20910	0.946000	0.59487	2.003000	0.40844	2.730000	0.93505	0.655000	0.94253	GTT		0.378	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		41	61	0	0	0	1	0	41	61				
OR8J1	219477	broad.mit.edu	37	11	56128531	56128531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56128531C>A	ENST00000303039.3	+	1	841	c.809C>A	c.(808-810)aCt>aAt	p.T270N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCACTGGATACTGATGATAAG	0.423																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(808-810)aCt>aAt		olfactory receptor, family 8, subfamily J, member 1							129.0	111.0	117.0					11																	56128531		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128531C>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.809C>A	11.37:g.56128531C>A	ENSP00000304060:p.Thr270Asn						p.T270N	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	841	+	Esophageal squamous(21;0.00448)		270					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.809C>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622303	0.46840	.	.	ENSG00000172487	ENST00000303039	T	0.00091	8.74	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.177724	0.40222	N	0.001157	T	0.00328	0.0010	L	0.53249	1.67	0.09310	N	1	D	0.53619	0.961	P	0.59825	0.864	T	0.57734	-0.7760	10	0.87932	D	0	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	270	Q8NGP2	OR8J1_HUMAN	N	270	ENSP00000304060:T270N	ENSP00000304060:T270N	T	+	2	0	OR8J1	55885107	0.000000	0.05858	0.983000	0.44433	0.766000	0.43426	-0.785000	0.04628	2.185000	0.69588	0.549000	0.68633	ACT		0.423	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		64	87	1	0	8.33888e-18	1	1.08395e-17	64	87				
GPNMB	10457	broad.mit.edu	37	7	23309606	23309606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23309606C>T	ENST00000381990.2	+	9	1438	c.1277C>T	c.(1276-1278)aCc>aTc	p.T426I	GPNMB_ENST00000453162.2_Missense_Mutation_p.T368I|GPNMB_ENST00000258733.4_Missense_Mutation_p.T414I|GPNMB_ENST00000539136.1_Missense_Mutation_p.T315I	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	426					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GAGGTCTGTACCATCATTTCT	0.557																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1240-1242)aCc>aTc		glycoprotein (transmembrane) nmb							169.0	150.0	157.0					7																	23309606		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23309606C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1277C>T	7.37:g.23309606C>T	ENSP00000371420:p.Thr426Ile					GPNMB_ENST00000539136.1_Missense_Mutation_p.T315I|GPNMB_ENST00000381990.2_Missense_Mutation_p.T426I|GPNMB_ENST00000453162.2_Missense_Mutation_p.T368I	p.T414I			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		9	1536	+			426					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1241C>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592265	0.66219	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.17691	2.31;2.27;2.31;2.26	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.30119	-0.9989	10	0.25106	T	0.35	-26.9383	20.5753	0.99366	0.0:1.0:0.0:0.0	.	315;368;426;414	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	I	414;461;426;309;315;368	ENSP00000258733:T414I;ENSP00000371420:T426I;ENSP00000445266:T315I;ENSP00000405586:T368I	ENSP00000258733:T414I	T	+	2	0	GPNMB	23276131	1.000000	0.71417	0.336000	0.25522	0.045000	0.14185	6.260000	0.72502	2.868000	0.98415	0.557000	0.71058	ACC		0.557	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		8	135	0	0	0	1	0	8	135				
PAQR7	164091	broad.mit.edu	37	1	26190160	26190160	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26190160G>A	ENST00000374296.3	-	2	837	c.171C>T	c.(169-171)acC>acT	p.T57T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	57					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGCGCCAGGTCTGATGCA	0.642																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(169-171)acC>acT		progestin and adipoQ receptor family member VII							58.0	59.0	59.0					1																	26190160		2203	4300	6503	SO:0001819	synonymous_variant	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26190160G>A		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.171C>T	1.37:g.26190160G>A							p.T57T	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	837	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	57					A2A2D3|Q5XKF9|Q86VE4	Silent	SNP	ENST00000374296.3	37	c.171C>T	CCDS267.1																																																																																				0.642	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		17	37	0	0	0	1	0	17	37				
DSCR10	259234	broad.mit.edu	37	21	39580414	39580414	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39580414C>A	ENST00000432141.1	+	0	536					NR_027695.1		P59022	DSC10_HUMAN	Down syndrome critical region gene 10 (non-protein coding)																		CCTCCGCTTCCTGTCAGGGTG	0.582																																						ENST00000432141.1																			0																				265.0	220.0	235.0					21																	39580414		2203	4300	6503			0							g.chr21:39580414C>A	AB066291		21q22.13	2012-10-16	2011-02-24		ENSG00000233316	ENSG00000233316		"""Long non-coding RNAs"""	16302	non-coding RNA	RNA, long non-coding			"""Down syndrome critical region gene 10"""			12168953	Standard	NR_027695		Approved		uc010gnt.2	P59022	OTTHUMG00000090611		21.37:g.39580414C>A								NR_027695.1						0	536	+								Q52LN2	RNA	SNP	ENST00000432141.1	37																																																																																						0.582	DSCR10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000207199.1	NR_027695.1		18	216	1	0	7.07596e-05	1	7.86387e-05	18	216				
LCN15	389812	broad.mit.edu	37	9	139651520	139651520	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139651520C>T	ENST00000316144.5	-	0	762				LCN15_ENST00000482511.1_5'Flank|LCN8_ENST00000371688.3_Missense_Mutation_p.S42N|LCN8_ENST00000482893.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						GGTCAGGTTACTCCCGCTCAA	0.612																																						ENST00000371688.3																			0				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(124-126)aGt>aAt		lipocalin 8							56.0	48.0	51.0					9																	139651520		2203	4300	6503	SO:0001628	intergenic_variant	138307				transport	extracellular region	binding	g.chr9:139651520C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651520C>T						LCN8_ENST00000482893.1_5'UTR	p.S42N	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	2	420	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	65						Missense_Mutation	SNP	ENST00000316144.5	37	c.125G>A	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.205031	0.06180	.	.	ENSG00000204001	ENST00000371688	T	0.11385	2.78	3.47	0.0511	0.14296	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.04998	0.0134	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.44574	-0.9319	8	.	.	.	.	3.817	0.08819	0.0:0.2858:0.5094:0.2048	.	65;42	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	N	42	ENSP00000360753:S42N	.	S	-	2	0	LCN8	138771341	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.888000	0.04148	0.018000	0.15052	0.561000	0.74099	AGT		0.612	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		13	9	0	0	0	1	0	13	9				
KLHL11	55175	broad.mit.edu	37	17	40011097	40011097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40011097C>T	ENST00000319121.3	-	2	1082	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	341										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GGGGTGCTGGCATGTGCCAGA	0.478																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1021-1023)tGc>tAc		kelch-like family member 11							137.0	114.0	122.0					17																	40011097		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40011097C>T		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1022G>A	17.37:g.40011097C>T	ENSP00000314608:p.Cys341Tyr						p.C341Y	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1082	-		Breast(137;0.00156)	341						Missense_Mutation	SNP	ENST00000319121.3	37	c.1022G>A	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.221782	0.00024	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.70749	-0.51	5.72	2.27	0.28462	.	0.483454	0.23585	N	0.046615	T	0.38108	0.1028	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28396	-1.0045	10	0.02654	T	1	2.8905	2.9981	0.06004	0.5661:0.1283:0.067:0.2386	.	341	Q9NVR0	KLH11_HUMAN	Y	341;204	ENSP00000314608:C341Y	ENSP00000314608:C341Y	C	-	2	0	KLHL11	37264623	0.817000	0.29147	0.876000	0.34364	0.094000	0.18550	2.975000	0.49281	0.419000	0.25927	-0.362000	0.07510	TGC		0.478	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		35	59	0	0	0	1	0	35	59				
FANCL	55120	broad.mit.edu	37	2	58388666	58388666	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:58388666G>A	ENST00000233741.4	-	12	1047	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FANCL_ENST00000403295.3_Silent_p.C309C|FANCL_ENST00000402135.3_Silent_p.C342C|FANCL_ENST00000403676.1_Silent_p.C220C	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	337					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C337C(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCTCATATAAGCATATTTGAT	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3																			1	Substitution - coding silent(1)	p.C337C(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(1024-1026)tgC>tgT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group L							81.0	86.0	84.0					2																	58388666		2202	4298	6500	SO:0001819	synonymous_variant	55120	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58388666G>A	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.1011C>T	2.37:g.58388666G>A						FANCL_ENST00000403295.3_Silent_p.C309C|FANCL_ENST00000403676.1_Silent_p.C220C|FANCL_ENST00000233741.4_Silent_p.C337C	p.C342C	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			12	1062	-			337					Q6GU60	Silent	SNP	ENST00000233741.4	37	c.1026C>T	CCDS1860.1																																																																																				0.333	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		4	78	0	0	0	1	0	4	78				
TM4SF20	79853	broad.mit.edu	37	2	228228534	228228534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228228534C>A	ENST00000304568.3	-	4	633	c.596G>T	c.(595-597)gGa>gTa	p.G199V		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTCCAGAATTCCAACAAGCAA	0.428																																						ENST00000304568.3																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10						c.(595-597)gGa>gTa		transmembrane 4 L six family member 20							130.0	132.0	131.0					2																	228228534		2203	4300	6503	SO:0001583	missense	79853					integral to membrane|plasma membrane		g.chr2:228228534C>A	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.596G>T	2.37:g.228228534C>A	ENSP00000303028:p.Gly199Val						p.G199V	NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	4	633	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	199					B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	ENST00000304568.3	37	c.596G>T	CCDS2466.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652703	0.47362	.	.	ENSG00000168955	ENST00000304568	T	0.36520	1.25	5.62	4.71	0.59529	.	0.074240	0.56097	D	0.000037	T	0.60958	0.2309	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.65529	-0.6146	10	0.72032	D	0.01	-19.6503	12.6387	0.56696	0.0:0.835:0.165:0.0	.	199	Q53R12	T4S20_HUMAN	V	199	ENSP00000303028:G199V	ENSP00000303028:G199V	G	-	2	0	TM4SF20	227936778	0.271000	0.24162	0.814000	0.32528	0.207000	0.24258	1.049000	0.30392	2.659000	0.90383	0.655000	0.94253	GGA		0.428	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		53	97	1	0	1.19403e-26	1	1.59107e-26	53	97				
OCIAD1	54940	broad.mit.edu	37	4	48834663	48834663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48834663C>T	ENST00000381473.3	+	2	440	c.22C>T	c.(22-24)Cga>Tga	p.R8*	OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000512981.1_Intron|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000425583.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000506801.1_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	8	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GGCTGATTTTCGAGAGCCGAA	0.348																																						ENST00000425583.2																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(22-24)Cga>Tga		OCIA domain containing 1							153.0	171.0	165.0					4																	48834663		2203	4300	6503	SO:0001587	stop_gained	54940					endosome	protein binding	g.chr4:48834663C>T	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.22C>T	4.37:g.48834663C>T	ENSP00000370882:p.Arg8*					OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000512981.1_Intron	p.R8*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			2	297	+			8			OCIA.		C9K030|G8JLN7|Q9BZE8	Nonsense_Mutation	SNP	ENST00000381473.3	37	c.22C>T	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897741	0.72639	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000509664;ENST00000505922;ENST00000514981;ENST00000511662;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000425583;ENST00000508293;ENST00000513391	.	.	.	4.22	0.234	0.15390	.	1.134210	0.06682	N	0.768217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3444	4.4092	0.11425	0.0:0.4224:0.3662:0.2114	.	.	.	.	X	8	.	ENSP00000264312:R8X	R	+	1	2	OCIAD1	48529420	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	1.089000	0.30890	0.167000	0.19631	0.655000	0.94253	CGA		0.348	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		56	91	0	0	0	1	0	56	91				
TRIP13	9319	broad.mit.edu	37	5	901528	901528	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:901528C>T	ENST00000166345.3	+	5	873	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	173					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CACCTGGAACCGGGTGGTGCT	0.433																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(517-519)Cgg>Tgg		thyroid hormone receptor interactor 13							91.0	88.0	89.0					5																	901528		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:901528C>T	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.517C>T	5.37:g.901528C>T	ENSP00000166345:p.Arg173Trp						p.R173W	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		5	873	+			173					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.517C>T	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879806	0.72294	.	.	ENSG00000071539	ENST00000166345	D	0.95342	-3.68	5.48	4.53	0.55603	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97988	1.0353	10	0.87932	D	0	-22.763	10.8359	0.46688	0.401:0.5989:0.0:0.0	.	173	Q15645	PCH2_HUMAN	W	173	ENSP00000166345:R173W	ENSP00000166345:R173W	R	+	1	2	TRIP13	954528	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	2.951000	0.49089	2.571000	0.86741	0.491000	0.48974	CGG		0.433	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		13	20	0	0	0	1	0	13	20				
ANKFY1	51479	broad.mit.edu	37	17	4076668	4076668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4076668C>T	ENST00000341657.4	-	21	3030	c.2995G>A	c.(2995-2997)Gcc>Acc	p.A999T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A1041T|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A1000T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	999					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AAGGCTTCGGCGTCCACTGTG	0.597																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2995-2997)Gcc>Acc		ankyrin repeat and FYVE domain containing 1							68.0	75.0	73.0					17																	4076668		1967	4150	6117	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4076668C>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2995G>A	17.37:g.4076668C>T	ENSP00000343362:p.Ala999Thr					CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A1041T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A1000T	p.A999T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			21	3030	-			999					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2995G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.128511	0.94473	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	4.91	4.91	0.64330	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	L	0.31420	0.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.987;0.977;0.977	T	0.62987	-0.6737	9	0.36615	T	0.2	-13.642	15.4265	0.75055	0.0:1.0:0.0:0.0	.	941;999;1000;1041	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	1000;941	.	ENSP00000343362:A1000T	A	-	1	0	ANKFY1	4023417	1.000000	0.71417	0.694000	0.30210	0.843000	0.47879	7.339000	0.79282	2.561000	0.86390	0.563000	0.77884	GCC		0.597	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		16	24	0	0	0	1	0	16	24				
COL4A4	1286	broad.mit.edu	37	2	228012194	228012194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228012194C>T	ENST00000396625.3	-	2	213	c.6G>A	c.(4-6)tgG>tgA	p.W2*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.W2*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	2					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTGCAGAGACCACATCGCAG	0.448																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4-6)tgG>tgA		collagen, type IV, alpha 4							185.0	192.0	189.0					2																	228012194		1913	4146	6059	SO:0001587	stop_gained	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228012194C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.6G>A	2.37:g.228012194C>T	ENSP00000379866:p.Trp2*					COL4A4_ENST00000329662.7_Nonsense_Mutation_p.W2*	p.W2*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	2	213	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	2					A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	c.6G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841048	0.71488	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	4.59	-3.52	0.04682	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.9048	0.13793	0.0:0.3849:0.3308:0.2843	.	.	.	.	X	2	.	ENSP00000328553:W2X	W	-	3	0	COL4A4	227720438	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.790000	0.04604	-0.766000	0.04639	0.585000	0.79938	TGG		0.448	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		73	133	0	0	0	1	0	73	133				
NUDC	10726	broad.mit.edu	37	1	27269155	27269155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269155C>T	ENST00000321265.5	+	5	557	c.434C>T	c.(433-435)aCt>aTt	p.T145I		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	145					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AAGCAGGATACTGAGGAAGAT	0.532																																						ENST00000321265.5																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8						c.(433-435)aCt>aTt		nudC nuclear distribution protein							98.0	92.0	94.0					1																	27269155		2203	4300	6503	SO:0001583	missense	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27269155C>T		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.434C>T	1.37:g.27269155C>T	ENSP00000319664:p.Thr145Ile						p.T145I	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	5	557	+			145					Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	c.434C>T	CCDS292.1	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190422	0.21954	.	.	ENSG00000090273	ENST00000435827;ENST00000321265;ENST00000452707	D	0.81821	-1.54	5.03	5.03	0.67393	.	0.785535	0.12518	N	0.461899	T	0.55065	0.1897	N	0.00926	-1.1	0.23003	N	0.998449	B;B	0.27166	0.043;0.17	B;B	0.20955	0.032;0.031	T	0.48175	-0.9058	10	0.37606	T	0.19	3.1578	12.3775	0.55289	0.1686:0.8314:0.0:0.0	.	96;145	Q9H2R7;Q9Y266	.;NUDC_HUMAN	I	149;145;96	ENSP00000319664:T145I	ENSP00000319664:T145I	T	+	2	0	NUDC	27141742	0.102000	0.21896	0.487000	0.27428	0.290000	0.27261	1.732000	0.38146	2.635000	0.89317	0.650000	0.86243	ACT		0.532	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			25	39	0	0	0	1	0	25	39				
CDC25C	995	broad.mit.edu	37	5	137627773	137627773	+	Silent	SNP	C	C	T	rs116617843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137627773C>T	ENST00000323760.6	-	8	926	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CDC25C_ENST00000514555.1_Silent_p.S186S|CDC25C_ENST00000356505.3_Silent_p.S186S|CDC25C_ENST00000415130.2_Silent_p.S143S|CDC25C_ENST00000513970.1_Silent_p.S216S|CDC25C_ENST00000348983.3_Silent_p.S143S|CDC25C_ENST00000357274.3_Silent_p.S173S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	216					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGGCATCGACGGGGAGC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		15510	0.0		0.001	False		,,,				2504	0.0					ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(646-648)tcG>tcA		cell division cycle 25C							142.0	147.0	146.0					5																	137627773		2203	4300	6503	SO:0001819	synonymous_variant	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137627773C>T	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.648G>A	5.37:g.137627773C>T						CDC25C_ENST00000357274.3_Silent_p.S173S|CDC25C_ENST00000356505.3_Silent_p.S186S|CDC25C_ENST00000348983.3_Silent_p.S143S|CDC25C_ENST00000514555.1_Silent_p.S186S|CDC25C_ENST00000513970.1_Silent_p.S216S|CDC25C_ENST00000415130.2_Silent_p.S143S	p.S216S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		8	926	-			216					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Silent	SNP	ENST00000323760.6	37	c.648G>A	CCDS4202.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.212	-1.035409	0.02029	.	.	ENSG00000158402	ENST00000514017	.	.	.	3.09	-6.19	0.02078	.	.	.	.	.	T	0.44664	0.1304	.	.	.	0.39635	D	0.97023	.	.	.	.	.	.	T	0.48758	-0.9007	4	.	.	.	-6.7022	4.6385	0.12536	0.1814:0.1234:0.0901:0.6051	.	.	.	.	N	11	.	.	D	-	1	0	CDC25C	137655672	0.007000	0.16637	0.026000	0.17262	0.279000	0.26890	-3.067000	0.00620	-3.312000	0.00190	-1.166000	0.01754	GAT		0.448	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			54	90	0	0	0	1	0	54	90				
RECQL5	9400	broad.mit.edu	37	17	73627598	73627598	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73627598G>T	ENST00000317905.5	-	9	1539	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	RECQL5_ENST00000423245.2_Silent_p.P433P|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	460					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCCCTGGGAGGGCCCGATGC	0.687								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1378-1380)ccC>ccA	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							44.0	49.0	48.0					17																	73627598		2042	4181	6223	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627598G>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1380C>A	17.37:g.73627598G>T						RECQL5_ENST00000423245.2_Silent_p.P433P|RECQL5_ENST00000443199.2_5'UTR	p.P460P	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		9	1539	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		460					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.1380C>A	CCDS42380.1																																																																																				0.687	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		27	42	1	0	7.92952e-12	1	9.92272e-12	27	42				
HNRNPH1	3187	broad.mit.edu	37	5	179042596	179042596	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179042596T>C	ENST00000356731.5	-	12	2836	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	HNRNPH1_ENST00000511300.2_Splice_Site_p.D144G|HNRNPH1_ENST00000393432.4_Splice_Site_p.D434G|HNRNPH1_ENST00000329433.6_Intron|HNRNPH1_ENST00000510411.1_Splice_Site_p.D414G|HNRNPH1_ENST00000442819.2_Splice_Site_p.D434G			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	434					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TAAAACTTGGTCTGCAAAAGG	0.289																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e12-1		heterogeneous nuclear ribonucleoprotein H1 (H)							62.0	66.0	64.0					5																	179042596		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179042596T>C	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1301-1A>G	5.37:g.179042596T>C						HNRNPH1_ENST00000393432.4_Splice_Site_p.D434_splice|HNRNPH1_ENST00000442819.2_Splice_Site_p.D434_splice|HNRNPH1_ENST00000510411.1_Splice_Site_p.D414_splice|HNRNPH1_ENST00000511300.2_Splice_Site_p.D144_splice|HNRNPH1_ENST00000329433.6_Intron	p.D434_splice			P31943	HNRH1_HUMAN			12	2836	-			434					B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1300_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	t	7.140	0.581581	0.13686	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000510411;ENST00000511300;ENST00000519033	T;T;T;T;T;T	0.15139	2.82;2.82;2.82;2.85;2.45;2.65	5.46	4.27	0.50696	.	.	.	.	.	T	0.12817	0.0311	N	0.02539	-0.55	0.32510	N	0.537607	D;B	0.57571	0.98;0.006	P;B	0.57009	0.811;0.007	T	0.17258	-1.0375	9	0.35671	T	0.21	.	9.3862	0.38345	0.0:0.0:0.1799:0.8201	.	414;434	E9PCY7;P31943	.;HNRH1_HUMAN	G	434;434;434;414;144;170	ENSP00000377082:D434G;ENSP00000397797:D434G;ENSP00000349168:D434G;ENSP00000426275:D414G;ENSP00000444220:D144G;ENSP00000429481:D170G	ENSP00000349168:D434G	D	-	2	0	HNRNPH1	178975202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.631000	0.54280	0.874000	0.35823	0.454000	0.30748	GAC		0.289	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Missense_Mutation	12	23	0	0	0	1	0	12	23				
SDHC	6391	broad.mit.edu	37	1	161326568	161326568	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161326568A>G	ENST00000367975.2	+	5	492	c.343A>G	c.(343-345)Aca>Gca	p.T115A	SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000392169.2_Missense_Mutation_p.T62A|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.T81A	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	115					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACTGATCCACACAGCTAAGTT	0.473			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		"""paraganglioma, pheochromocytoma"""			0				urinary_tract(1)	1						c.(343-345)Aca>Gca		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						173.0	164.0	167.0					1																	161326568		2203	4300	6503	SO:0001583	missense	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326568A>G	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.343A>G	1.37:g.161326568A>G	ENSP00000356953:p.Thr115Ala					SDHC_ENST00000432287.2_Missense_Mutation_p.T81A|SDHC_ENST00000392169.2_Missense_Mutation_p.T62A|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000513009.1_Intron	p.T115A	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	492	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		115					O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Missense_Mutation	SNP	ENST00000367975.2	37	c.343A>G	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	a	5.486	0.274691	0.10403	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	D;D;D	0.95137	-3.62;-3.62;-3.62	5.24	-0.0655	0.13768	.	0.530315	0.21612	N	0.071766	T	0.68879	0.3049	N	0.10972	0.075	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50338	-0.8840	9	0.09843	T	0.71	.	5.5314	0.16987	0.3784:0.0:0.0789:0.5427	.	62;81;115	Q99643-5;Q99643-3;Q99643	.;.;C560_HUMAN	A	115;81;62	ENSP00000356953:T115A;ENSP00000390558:T81A;ENSP00000376009:T62A	ENSP00000356953:T115A	T	+	1	0	SDHC	159593192	0.999000	0.42202	0.837000	0.33122	0.991000	0.79684	0.594000	0.24014	-0.202000	0.10268	0.520000	0.50463	ACA		0.473	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001		62	133	0	0	0	1	0	62	133				
PARP4	143	broad.mit.edu	37	13	25029234	25029234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25029234C>T	ENST00000381989.3	-	22	2784	c.2679G>A	c.(2677-2679)ttG>ttA	p.L893L	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	893	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTTGGCTTGCAAGAATGTCA	0.517																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2677-2679)ttG>ttA		poly (ADP-ribose) polymerase family, member 4							262.0	224.0	237.0					13																	25029234		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25029234C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2679G>A	13.37:g.25029234C>T							p.L893L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	22	2784	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	893			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2679G>A	CCDS9307.1																																																																																				0.517	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		21	96	0	0	0	1	0	21	96				
DPAGT1	1798	broad.mit.edu	37	11	118971440	118971440	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118971440G>T	ENST00000409993.2	-	5	1947	c.396C>A	c.(394-396)gcC>gcA	p.A132A	DPAGT1_ENST00000354202.4_Silent_p.A132A|DPAGT1_ENST00000432443.2_Silent_p.A25A|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	132					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAGGTAGTGAGGCAGCTGTAG	0.552											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(394-396)gcC>gcA		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							72.0	59.0	63.0					11																	118971440		2200	4295	6495	SO:0001819	synonymous_variant	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971440G>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.396C>A	11.37:g.118971440G>T			OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000432443.2_Silent_p.A25A|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Silent_p.A132A	p.A132A			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	5	1947	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	132					O15216|Q86WV9|Q9BWE6	Silent	SNP	ENST00000409993.2	37	c.396C>A	CCDS8411.1																																																																																				0.552	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		9	30	1	0	5.4927e-09	1	6.6252e-09	9	30				
NMRK1	54981	broad.mit.edu	37	9	77683915	77683915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77683915C>T	ENST00000361092.4	-	7	729	c.493G>A	c.(493-495)Gtt>Att	p.V165I	NMRK1_ENST00000482537.1_5'Flank|NMRK1_ENST00000376811.1_Missense_Mutation_p.V169I|NMRK1_ENST00000376808.4_Missense_Mutation_p.V141I	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	165					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										CACTTACCAACTTCCCATGTG	0.428																																						ENST00000376811.1																			0											c.(505-507)Gtt>Att		nicotinamide riboside kinase 1							139.0	122.0	128.0					9																	77683915		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77683915C>T	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.493G>A	9.37:g.77683915C>T	ENSP00000354387:p.Val165Ile					NMRK1_ENST00000361092.4_Missense_Mutation_p.V165I|NMRK1_ENST00000376808.4_Missense_Mutation_p.V141I	p.V169I			Q9NWW6	NRK1_HUMAN			8	967	-			165					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.505G>A	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	C	4.955	0.177415	0.09443	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.35973	1.28;1.28;1.28	6.17	-0.455	0.12193	.	0.175713	0.49305	N	0.000160	T	0.06826	0.0174	N	0.00422	-1.515	0.09310	N	0.999991	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.001;0.001;0.006	T	0.37407	-0.9707	10	0.02654	T	1	.	5.5576	0.17125	0.0:0.3065:0.2553:0.4382	.	141;169;165	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	I	169;169;165;141	ENSP00000366007:V169I;ENSP00000354387:V165I;ENSP00000366004:V141I	ENSP00000354387:V165I	V	-	1	0	C9orf95	76873735	0.004000	0.15560	0.197000	0.23402	0.534000	0.34807	-0.011000	0.12721	-0.298000	0.08921	-0.302000	0.09304	GTT		0.428	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		6	35	0	0	0	1	0	6	35				
BCOR	54880	broad.mit.edu	37	X	39932795	39932795	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39932795G>T	ENST00000378444.4	-	4	2032	c.1804C>A	c.(1804-1806)Ccg>Acg	p.P602T	BCOR_ENST00000378455.4_Missense_Mutation_p.P602T|BCOR_ENST00000397354.3_Missense_Mutation_p.P602T|BCOR_ENST00000342274.4_Missense_Mutation_p.P602T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	602					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGAGTGGCCGGGGGCTGGCCC	0.597			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1804-1806)Ccg>Acg		BCL6 corepressor							63.0	64.0	63.0					X																	39932795		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932795G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1804C>A	X.37:g.39932795G>T	ENSP00000367705:p.Pro602Thr					BCOR_ENST00000378444.4_Missense_Mutation_p.P602T|BCOR_ENST00000397354.3_Missense_Mutation_p.P602T|BCOR_ENST00000378455.4_Missense_Mutation_p.P602T	p.P602T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2166	-			602					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.1804C>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	4.916	0.170258	0.09339	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	5.8	4.93	0.64822	.	.	.	.	.	T	0.07234	0.0183	N	0.19112	0.55	0.24084	N	0.995938	B;B;B;B	0.31949	0.089;0.348;0.236;0.348	B;B;B;B	0.29862	0.075;0.108;0.05;0.108	T	0.32719	-0.9896	9	0.41790	T	0.15	-7.5105	7.2391	0.26086	0.149:0.247:0.6039:0.0	.	602;602;602;602	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	602;602;602;602;602;9	ENSP00000367716:P602T;ENSP00000380512:P602T;ENSP00000367705:P602T;ENSP00000345923:P602T;ENSP00000384485:P602T	ENSP00000345923:P602T	P	-	1	0	BCOR	39817739	0.992000	0.36948	0.986000	0.45419	0.573000	0.36030	0.710000	0.25748	1.178000	0.42870	0.600000	0.82982	CCG		0.597	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	75	1	0	0.184627	1	0.186383	4	75				
CCDC146	57639	broad.mit.edu	37	7	76922406	76922406	+	Silent	SNP	C	C	T	rs149134416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76922406C>T	ENST00000285871.4	+	18	2680	c.2553C>T	c.(2551-2553)tgC>tgT	p.C851C	CCDC146_ENST00000431197.1_Silent_p.C565C|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	851										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTTCACTTGCAATTCCAGGA	0.433																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(2551-2553)tgC>tgT		coiled-coil domain containing 146							108.0	107.0	107.0					7																	76922406		2203	4300	6503	SO:0001819	synonymous_variant	57639							g.chr7:76922406C>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2553C>T	7.37:g.76922406C>T						CCDC146_ENST00000431197.1_Silent_p.C565C|CCDC146_ENST00000415740.2_3'UTR	p.C851C	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			18	2680	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	851					A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	c.2553C>T	CCDS34671.1																																																																																				0.433	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		7	133	0	0	0	1	0	7	133				
FGF16	8823	broad.mit.edu	37	X	76711988	76711988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76711988C>T	ENST00000439435.1	+	2	325	c.325C>T	c.(325-327)Cca>Tca	p.P109S				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						CCCTCCATGTCCAGAGACCTC	0.502																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(325-327)Cca>Tca		fibroblast growth factor 16							111.0	105.0	107.0					X																	76711988		1899	4107	6006	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711988C>T	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"""metacarpal 4-5 fusion"""	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.325C>T	X.37:g.76711988C>T	ENSP00000399324:p.Pro109Ser						p.P109S			O43320	FGF16_HUMAN			2	325	+			0						Missense_Mutation	SNP	ENST00000439435.1	37	c.325C>T		.	.	.	.	.	.	.	.	.	.	C	10.59	1.391576	0.25118	.	.	ENSG00000196468	ENST00000439435	.	.	.	5.07	4.2	0.49525	.	.	.	.	.	T	0.41213	0.1149	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50457	-0.8826	3	.	.	.	.	5.6284	0.17495	0.3746:0.5245:0.0:0.1009	.	.	.	.	S	109	.	.	P	+	1	0	FGF16	76598644	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.992000	0.56980	2.086000	0.62901	0.544000	0.68410	CCA		0.502	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		42	86	0	0	0	1	0	42	86				
KIAA0319L	79932	broad.mit.edu	37	1	35972362	35972362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35972362C>T	ENST00000325722.3	-	3	751	c.517G>A	c.(517-519)Gct>Act	p.A173T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	173						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATACAGCAGGTCTGAGT	0.498																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(517-519)Gct>Act		KIAA0319-like							130.0	123.0	125.0					1																	35972362		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35972362C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.517G>A	1.37:g.35972362C>T	ENSP00000318406:p.Ala173Thr						p.A173T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			3	751	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	173					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.517G>A	CCDS390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.847|8.847	0.943659|0.943659	0.18281|0.18281	.|.	.|.	ENSG00000142687|ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892;ENST00000494948|ENST00000431916	T;T;T;T;T|.	0.43294|.	3.28;3.28;2.77;1.54;0.95|.	5.48|5.48	-3.3|-3.3	0.05003|0.05003	.|.	0.693322|.	0.13460|.	N|.	0.386262|.	T|T	0.12732|0.12732	0.0309|0.0309	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12630|.	0.002;0.006;0.0|.	B;B;B|.	0.12156|.	0.007;0.005;0.0|.	T|T	0.28364|0.28364	-1.0046|-1.0046	10|5	0.18710|.	T|.	0.47|.	-0.0917|-0.0917	5.3632|5.3632	0.16099|0.16099	0.2215:0.4192:0.0:0.3593|0.2215:0.4192:0.0:0.3593	.|.	173;173;173|.	B4DYG9;B1AN14;Q8IZA0|.	.;.;K319L_HUMAN|.	T|Y	173|36	ENSP00000318406:A173T;ENSP00000395883:A173T;ENSP00000407576:A173T;ENSP00000362355:A173T;ENSP00000419396:A173T|.	ENSP00000318406:A173T|.	A|C	-|-	1|2	0|0	KIAA0319L|KIAA0319L	35744949|35744949	0.025000|0.025000	0.19082|0.19082	0.000000|0.000000	0.03702|0.03702	0.856000|0.856000	0.48823|0.48823	-0.692000|-0.692000	0.05127|0.05127	-0.586000|-0.586000	0.05898|0.05898	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.498	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		8	94	0	0	0	1	0	8	94				
SLC22A7	10864	broad.mit.edu	37	6	43269964	43269964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43269964G>A	ENST00000372585.5	+	8	1183	c.1088G>A	c.(1087-1089)gGc>gAc	p.G363D	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G361D|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G361D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	363					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TCCTATTACGGCCTGAGTCTG	0.567																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1087-1089)gGc>gAc		solute carrier family 22 (organic anion transporter), member 7							126.0	116.0	120.0					6																	43269964		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43269964G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1088G>A	6.37:g.43269964G>A	ENSP00000361666:p.Gly363Asp					SLC22A7_ENST00000372589.3_Missense_Mutation_p.G361D|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G361D	p.G363D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1183	+			363					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1088G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942445	0.92526	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88515	0.3092	10	0.87932	D	0	.	15.812	0.78571	0.0:0.0:1.0:0.0	.	363;361;361	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	D	361;363;361;56	ENSP00000361670:G361D;ENSP00000361666:G363D;ENSP00000361655:G361D;ENSP00000393836:G56D	ENSP00000361655:G361D	G	+	2	0	SLC22A7	43377942	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.482000	0.90439	2.468000	0.83385	0.462000	0.41574	GGC		0.567	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			28	41	0	0	0	1	0	28	41				
UBE2E1	7324	broad.mit.edu	37	3	23848871	23848871	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23848871C>T	ENST00000306627.3	+	2	330	c.111C>T	c.(109-111)agC>agT	p.S37S	UBE2E1_ENST00000346855.3_Silent_p.S37S|UBE2E1-AS1_ENST00000426702.1_RNA	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						GTAAAGTCAGCATGAGCAAAA	0.493																																						ENST00000306627.3																			0				breast(1)|endometrium(2)|large_intestine(4)	7						c.(109-111)agC>agT		ubiquitin-conjugating enzyme E2E 1							156.0	161.0	159.0					3																	23848871		2203	4300	6503	SO:0001819	synonymous_variant	7324				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr3:23848871C>T	X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.111C>T	3.37:g.23848871C>T						UBE2E1_ENST00000346855.3_Silent_p.S37S	p.S37S	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN			2	330	+			37					B2RBX4|C9J8K2|K4DI90	Silent	SNP	ENST00000306627.3	37	c.111C>T	CCDS2638.1																																																																																				0.493	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	NM_003341		4	35	0	0	0	1	0	4	35				
SMC4	10051	broad.mit.edu	37	3	160148851	160148851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160148851G>A	ENST00000357388.3	+	20	3423	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	SMC4_ENST00000360111.2_Intron|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.R991H|SMC4_ENST00000462787.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R966H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	991					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAGAACATCGCAATCTGCTT	0.338																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2971-2973)cGc>cAc		structural maintenance of chromosomes 4							53.0	55.0	54.0					3																	160148851		2203	4297	6500	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160148851G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2972G>A	3.37:g.160148851G>A	ENSP00000349961:p.Arg991His					SMC4_ENST00000360111.2_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R966H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.R991H|SMC4_ENST00000462787.1_Intron	p.R991H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		20	3423	+			991					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2972G>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139514	0.37728	.	.	ENSG00000113810	ENST00000357388;ENST00000469762;ENST00000344722;ENST00000545277	T;T;T	0.78481	-1.18;-0.87;-1.18	5.95	4.07	0.47477	RecF/RecN/SMC (1);	0.098153	0.64402	D	0.000001	T	0.73745	0.3626	M	0.65498	2.005	0.80722	D	1	B;B;B	0.21753	0.019;0.017;0.06	B;B;B	0.21546	0.035;0.013;0.011	T	0.72629	-0.4235	10	0.52906	T	0.07	-13.8211	10.3505	0.43931	0.1156:0.0:0.7667:0.1176	.	966;966;991	B3KXX5;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	H	991;966;991;585	ENSP00000349961:R991H;ENSP00000417964:R966H;ENSP00000341382:R991H	ENSP00000341382:R991H	R	+	2	0	SMC4	161631545	0.998000	0.40836	0.988000	0.46212	0.648000	0.38561	2.919000	0.48836	2.829000	0.97493	0.655000	0.94253	CGC		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			24	33	0	0	0	1	0	24	33				
UNC13A	23025	broad.mit.edu	37	19	17735657	17735657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17735657G>A	ENST00000519716.2	-	35	4177	c.4178C>T	c.(4177-4179)cCg>cTg	p.P1393L	UNC13A_ENST00000551649.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1393L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1391L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P1481L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1393	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTGAGGGGCGGCAGGACGAT	0.577																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4441-4443)cCg>cTg		unc-13 homolog A (C. elegans)							49.0	56.0	53.0					19																	17735657		1981	4159	6140	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17735657G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4178C>T	19.37:g.17735657G>A	ENSP00000429562:p.Pro1393Leu					UNC13A_ENST00000552293.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1391L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1393L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1393L	p.P1481L			Q9UPW8	UN13A_HUMAN			36	4441	-			1393			MHD2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4442C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011080	0.75046	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.11	4.11	0.48088	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.285087	0.33650	U	0.004698	D	0.89458	0.6721	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91681	0.5358	10	0.72032	D	0.01	-16.6629	14.2537	0.66038	0.0:0.0:1.0:0.0	.	1393	Q9UPW8	UN13A_HUMAN	L	1393;1481;1393;1393;1393;1391	ENSP00000429562:P1393L;ENSP00000400409:P1481L;ENSP00000252773:P1393L;ENSP00000447236:P1393L;ENSP00000447572:P1393L;ENSP00000446831:P1391L	ENSP00000252773:P1393L	P	-	2	0	UNC13A	17596657	1.000000	0.71417	0.939000	0.37840	0.871000	0.50021	9.328000	0.96403	2.026000	0.59711	0.306000	0.20318	CCG		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		6	12	0	0	0	1	0	6	12				
SUCLG2	8801	broad.mit.edu	37	3	67546270	67546270	+	Missense_Mutation	SNP	C	C	A	rs375087627		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:67546270C>A	ENST00000307227.5	-	9	1041	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	SUCLG2_ENST00000493112.1_Missense_Mutation_p.K338N|SUCLG2_ENST00000492795.1_Missense_Mutation_p.K338N	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	338					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CTTGAGCTTCCTTTACACCAC	0.433																																						ENST00000307227.5																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10						c.(1012-1014)aaG>aaT		succinate-CoA ligase, GDP-forming, beta subunit	Succinic acid(DB00139)						118.0	109.0	112.0					3																	67546270		1907	4138	6045	SO:0001583	missense	8801				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr3:67546270C>A	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.1014G>T	3.37:g.67546270C>A	ENSP00000307432:p.Lys338Asn					SUCLG2_ENST00000492795.1_Missense_Mutation_p.K338N|SUCLG2_ENST00000493112.1_Missense_Mutation_p.K338N	p.K338N	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	9	1041	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	338					C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	c.1014G>T	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053653	0.36277	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000492795	T;T;T	0.73681	-0.77;-0.77;0.03	5.78	2.03	0.26663	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.134868	0.64402	D	0.000004	T	0.52677	0.1749	N	0.10664	0.02	0.52099	D	0.999949	B	0.11235	0.004	B	0.14578	0.011	T	0.47114	-0.9142	10	0.87932	D	0	.	9.5067	0.39051	0.0:0.633:0.0:0.367	.	338	Q96I99	SUCB2_HUMAN	N	338	ENSP00000419325:K338N;ENSP00000307432:K338N;ENSP00000417589:K338N	ENSP00000307432:K338N	K	-	3	2	SUCLG2	67628960	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	1.540000	0.36115	0.371000	0.24564	0.563000	0.77884	AAG		0.433	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		8	73	1	0	0.000157383	1	0.00017284	8	73				
AKAP12	9590	broad.mit.edu	37	6	151672950	151672950	+	Missense_Mutation	SNP	G	G	A	rs200662204		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151672950G>A	ENST00000253332.1	+	3	3613	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	AKAP12_ENST00000402676.2_Missense_Mutation_p.E1142K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1044K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1037K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1142					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGTCAAGCCGAAACCTTAGC	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.0				Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3424-3426)Gaa>Aaa		A kinase (PRKA) anchor protein 12		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	75.0	75.0	75.0		3424,3130	3.3	0.0	6		75	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	AKAP12	NM_005100.3,NM_144497.2	56,56	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging,probably-damaging	1142/1783,1044/1685	151672950	5,13001	2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672950G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3424G>A	6.37:g.151672950G>A	ENSP00000253332:p.Glu1142Lys					AKAP12_ENST00000359755.5_Missense_Mutation_p.E1037K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1142K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1044K	p.E1142K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3664	+		Ovarian(120;0.125)	1142					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3424G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384825	0.42308	0.0	5.81E-4	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	4.19	3.32	0.38043	.	0.746850	0.11099	N	0.599847	T	0.01254	0.0041	L	0.29908	0.895	0.09310	N	0.999999	P;P;P	0.45428	0.858;0.858;0.778	B;B;B	0.32928	0.155;0.155;0.074	T	0.30794	-0.9966	10	0.07325	T	0.83	.	7.9709	0.30127	0.2483:0.0:0.7517:0.0	.	1037;1044;1142	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	1142;1142;1044;1037	ENSP00000384537:E1142K;ENSP00000253332:E1142K;ENSP00000346702:E1044K;ENSP00000352794:E1037K	ENSP00000253332:E1142K	E	+	1	0	AKAP12	151714643	0.802000	0.28943	0.023000	0.16930	0.039000	0.13416	3.181000	0.50903	0.771000	0.33359	-0.384000	0.06662	GAA		0.522	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			8	45	0	0	0	1	0	8	45				
ATP13A3	79572	broad.mit.edu	37	3	194159674	194159674	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194159674T>A	ENST00000439040.1	-	17	2529	c.1738A>T	c.(1738-1740)Aca>Tca	p.T580S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T580S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	580						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAAGTGCTGTTTCTTCTTCA	0.383																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1738-1740)Aca>Tca		ATPase type 13A3							125.0	119.0	121.0					3																	194159674		1825	4079	5904	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194159674T>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1738A>T	3.37:g.194159674T>A	ENSP00000416508:p.Thr580Ser					ATP13A3_ENST00000256031.4_Missense_Mutation_p.T580S	p.T580S			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	17	2529	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	580					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1738A>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366679	0.41902	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.86030	-2.06;-2.06	5.88	5.88	0.94601	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	N	0.25426	0.745	0.80722	D	1	B	0.21071	0.051	B	0.29077	0.098	T	0.71751	-0.4498	10	0.08179	T	0.78	-0.3169	16.2824	0.82697	0.0:0.0:0.0:1.0	.	580	Q9H7F0	AT133_HUMAN	S	580;580;318	ENSP00000416508:T580S;ENSP00000256031:T580S	ENSP00000256031:T580S	T	-	1	0	ATP13A3	195640963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.267000	0.78462	2.250000	0.74265	0.533000	0.62120	ACA		0.383	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		28	45	0	0	0	1	0	28	45				
PRDM9	56979	broad.mit.edu	37	5	23523466	23523466	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23523466A>G	ENST00000296682.3	+	9	1131	c.949A>G	c.(949-951)Agg>Ggg	p.R317G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	317	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACTGGATGAGGTAAGGCCA	0.428										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.e9+1		PR domain containing 9							119.0	114.0	116.0					5																	23523466		2203	4300	6503	SO:0001630	splice_region_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23523466A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.950+1A>G	5.37:g.23523466A>G		HNSCC(3;0.000094)					p.R317_splice	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			9	1131	+			317			SET.		B4DX22|Q27Q50	Splice_Site	SNP	ENST00000296682.3	37	c.950_splice	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.385732	0.42308	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.58940	0.3	3.72	3.72	0.42706	SET domain (2);	.	.	.	.	T	0.55114	0.1900	M	0.77406	2.37	0.51012	D	0.999908	P	0.38395	0.629	B	0.34873	0.191	T	0.63042	-0.6725	9	0.87932	D	0	-31.0501	9.3926	0.38383	1.0:0.0:0.0:0.0	.	317	Q9NQV7	PRDM9_HUMAN	G	317;111	ENSP00000296682:R317G	ENSP00000253473:R111G	R	+	1	2	PRDM9	23559223	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.398000	0.66308	1.631000	0.50456	0.483000	0.47432	AGG		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	Missense_Mutation	9	43	0	0	0	1	0	9	43				
ZNF292	23036	broad.mit.edu	37	6	87968797	87968797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87968797G>A	ENST00000369577.3	+	8	5493	c.5450G>A	c.(5449-5451)aGt>aAt	p.S1817N	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1812N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1817						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCCTTTATAAGTGTCATGCCA	0.323																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5449-5451)aGt>aAt		zinc finger protein 292							29.0	29.0	29.0					6																	87968797		1845	4087	5932	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968797G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5450G>A	6.37:g.87968797G>A	ENSP00000358590:p.Ser1817Asn					ZNF292_ENST00000339907.4_Missense_Mutation_p.S1812N	p.S1817N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5493	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1817					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5450G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.167318	0.00028	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06294	3.32;3.33	5.86	0.883	0.19177	.	0.651879	0.15568	N	0.255590	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47235	-0.9133	10	0.17832	T	0.49	.	5.0997	0.14753	0.3488:0.2835:0.3677:0.0	.	1817	O60281	ZN292_HUMAN	N	1817;1812	ENSP00000358590:S1817N;ENSP00000342847:S1812N	ENSP00000342847:S1812N	S	+	2	0	ZNF292	88025516	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.159000	0.19401	-0.145000	0.13849	AGT		0.323	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	13	0	0	0	1	0	8	13				
RNF14	9604	broad.mit.edu	37	5	141357958	141357958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141357958G>T	ENST00000394520.2	+	5	706	c.397G>T	c.(397-399)Gag>Tag	p.E133*	RNF14_ENST00000356143.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E133*|RNF14_ENST00000394514.2_Nonsense_Mutation_p.E7*|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000540015.1_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	133	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCTTAAGGAAGAGACCCTAGC	0.453																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(397-399)Gag>Tag		ring finger protein 14							119.0	105.0	109.0					5																	141357958		2203	4300	6503	SO:0001587	stop_gained	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141357958G>T	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.397G>T	5.37:g.141357958G>T	ENSP00000378028:p.Glu133*					RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E133*|RNF14_ENST00000394514.2_Nonsense_Mutation_p.E7*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E133*	p.E133*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	5	706	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	133			RWD.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Nonsense_Mutation	SNP	ENST00000394520.2	37	c.397G>T	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	38	7.045810	0.98025	.	.	ENSG00000013561	ENST00000511961;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394514;ENST00000507163;ENST00000394519	.	.	.	5.49	5.49	0.81192	.	0.234020	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.4335	0.94781	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;133;133;133;7;133;133	.	ENSP00000324956:E133X	E	+	1	0	RNF14	141338142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.513000	0.98010	2.600000	0.87896	0.558000	0.71614	GAG		0.453	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		5	59	1	0	0.000602214	1	0.000649039	5	59				
DMD	1756	broad.mit.edu	37	X	32456421	32456421	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32456421C>A	ENST00000357033.4	-	29	4214	c.4008G>T	c.(4006-4008)atG>atT	p.M1336I	DMD_ENST00000378677.2_Missense_Mutation_p.M1332I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1336					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAGCTCATCCATGACTCCGC	0.378																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4006-4008)atG>atT		dystrophin							130.0	110.0	117.0					X																	32456421		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32456421C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4008G>T	X.37:g.32456421C>A	ENSP00000354923:p.Met1336Ile					DMD_ENST00000378677.2_Missense_Mutation_p.M1332I	p.M1336I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			29	4214	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1336					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4008G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868603	0.51588	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.16073	2.37;2.37	5.82	3.97	0.46021	.	0.168141	0.27433	U	0.019399	T	0.13841	0.0335	L	0.38175	1.15	0.80722	D	1	B;B;B	0.23540	0.015;0.087;0.009	B;B;B	0.23852	0.01;0.049;0.004	T	0.05338	-1.0891	10	0.33940	T	0.23	.	11.2514	0.49028	0.0:0.7979:0.1268:0.0753	.	1328;1336;1332	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	I	1328;1332;1336;1336;1213	ENSP00000367948:M1332I;ENSP00000354923:M1336I	ENSP00000354923:M1336I	M	-	3	0	DMD	32366342	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.094000	0.41719	2.453000	0.82957	0.600000	0.82982	ATG		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	88	1	0	1.23904e-05	1	1.39987e-05	5	88				
COL14A1	7373	broad.mit.edu	37	8	121344960	121344960	+	Missense_Mutation	SNP	G	G	A	rs370064596		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121344960G>A	ENST00000297848.3	+	42	5041	c.4771G>A	c.(4771-4773)Gcc>Acc	p.A1591T	COL14A1_ENST00000309791.4_Missense_Mutation_p.A1591T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1496T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.A1591T(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCGCAAGGCGCCCTGGGACC	0.507																																						ENST00000297848.3																			1	Substitution - Missense(1)	p.A1591T(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4771-4773)Gcc>Acc		collagen, type XIV, alpha 1		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	97.0	88.0	91.0		4771	4.6	1.0	8		91	0,8600		0,0,4300	no	missense	COL14A1	NM_021110.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1591/1797	121344960	1,13005	2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121344960G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4771G>A	8.37:g.121344960G>A	ENSP00000297848:p.Ala1591Thr					COL14A1_ENST00000309791.4_Missense_Mutation_p.A1591T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1496T	p.A1591T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		42	5041	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1591			Triple-helical region 1 (COL2).			Missense_Mutation	SNP	ENST00000297848.3	37	c.4771G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022215	0.35701	2.27E-4	0.0	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.94376	-3.41;-3.41;-3.41	5.52	4.59	0.56863	.	0.322526	0.36167	N	0.002741	D	0.88987	0.6587	L	0.42632	1.34	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.83170	-0.0094	10	0.16896	T	0.51	.	12.072	0.53622	0.0:0.0:0.7867:0.2133	.	1591	Q05707	COEA1_HUMAN	T	1591;1591;1496	ENSP00000311809:A1591T;ENSP00000297848:A1591T;ENSP00000247781:A1496T	ENSP00000247781:A1496T	A	+	1	0	COL14A1	121414141	0.998000	0.40836	0.993000	0.49108	0.321000	0.28281	3.176000	0.50863	1.153000	0.42468	0.561000	0.74099	GCC		0.507	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		13	24	0	0	0	1	0	13	24				
QSER1	79832	broad.mit.edu	37	11	32954223	32954223	+	Silent	SNP	C	C	T	rs202001826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32954223C>T	ENST00000399302.2	+	4	1367	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	344	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CCCAAAATTACGGTTTAGTAC	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		21243	0.0		0.001	False		,,,				2504	0.0					ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(1030-1032)taC>taT		glutamine and serine rich 1		C		0,3742		0,0,1871	132.0	122.0	125.0		1032	2.5	1.0	11		125	3,8217		0,3,4107	no	coding-synonymous	QSER1	NM_001076786.1		0,3,5978	TT,TC,CC		0.0365,0.0,0.0251		344/1736	32954223	3,11959	1871	4110	5981	SO:0001819	synonymous_variant	79832							g.chr11:32954223C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1032C>T	11.37:g.32954223C>T						QSER1_ENST00000527788.1_Intron	p.Y344Y	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	1367	+	Breast(20;0.158)		344			Ser-rich.		Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.1032C>T	CCDS41631.1																																																																																				0.388	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		34	83	0	0	0	1	0	34	83				
CLIP2	7461	broad.mit.edu	37	7	73814804	73814804	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73814804C>T	ENST00000395060.1	+	14	2985	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	CLIP2_ENST00000361545.5_Silent_p.D960D|CLIP2_ENST00000223398.6_Silent_p.D995D			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	995						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACGGAGGACGCCCTGCGGG	0.657																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2983-2985)gaC>gaT		CAP-GLY domain containing linker protein 2							39.0	40.0	40.0					7																	73814804		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73814804C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2985C>T	7.37:g.73814804C>T						CLIP2_ENST00000361545.5_Silent_p.D960D|CLIP2_ENST00000395060.1_Silent_p.D995D	p.D995D	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			15	3312	+			995					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.2985C>T	CCDS5569.1																																																																																				0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		14	24	0	0	0	1	0	14	24				
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)																												ENST00000475390.1																			1	Substitution - Missense(1)	p.D202G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(604-606)gAc>gGc		SLIT and NTRK-like family, member 3							66.0	68.0	68.0					3																	164908014		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908014T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.605A>G	3.37:g.164908014T>C	ENSP00000420091:p.Asp202Gly	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G	p.D202G			O94933	SLIK3_HUMAN			2	1048	-			202					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.605A>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677490	0.68042	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57107	0.42;0.42	5.99	5.99	0.97316	.	0.000000	0.39834	N	0.001258	T	0.71728	0.3374	M	0.67397	2.05	0.58432	D	0.999998	D	0.69078	0.997	D	0.83275	0.996	T	0.74188	-0.3746	10	0.72032	D	0.01	-24.0302	16.4892	0.84195	0.0:0.0:0.0:1.0	.	202	O94933	SLIK3_HUMAN	G	202	ENSP00000420091:D202G;ENSP00000241274:D202G	ENSP00000241274:D202G	D	-	2	0	SLITRK3	166390708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.296000	0.77279	0.533000	0.62120	GAC		0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	51	0	0	0	1	0	4	51				
RBP3	5949	broad.mit.edu	37	10	48390151	48390151	+	Missense_Mutation	SNP	C	C	T	rs149256669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48390151C>T	ENST00000224600.4	-	1	840	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	243	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.A243T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGATGTGCGCGATGTCCTCG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19616	0.001		0.0	False		,,,				2504	0.0					ENST00000224600.4																			1	Substitution - Missense(1)	p.A243T(1)	ovary(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(727-729)Gcg>Acg		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	63.0	54.0	57.0		727	4.8	0.5	10	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	yes	missense	RBP3	NM_002900.2	58	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	243/1248	48390151	4,13002	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390151C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.727G>A	10.37:g.48390151C>T	ENSP00000224600:p.Ala243Thr						p.A243T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	840	-			243			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.727G>A	CCDS7218.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.8	4.199700	0.79015	2.27E-4	3.49E-4	ENSG00000107618	ENST00000224600	T	0.70282	-0.47	5.71	4.79	0.61399	Interphotoreceptor retinol-binding (2);	0.094859	0.64402	N	0.000001	T	0.80105	0.4562	L	0.60455	1.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.78440	-0.2203	10	0.34782	T	0.22	-18.097	12.9767	0.58542	0.0:0.9196:0.0:0.0804	.	243	P10745	RET3_HUMAN	T	243	ENSP00000224600:A243T	ENSP00000224600:A243T	A	-	1	0	RBP3	48010157	1.000000	0.71417	0.454000	0.27019	0.964000	0.63967	4.603000	0.61105	1.363000	0.46019	0.655000	0.94253	GCG		0.647	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		14	24	0	0	0	1	0	14	24				
PLXDC1	57125	broad.mit.edu	37	17	37264440	37264440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37264440C>T	ENST00000315392.4	-	5	739	c.528G>A	c.(526-528)gcG>gcA	p.A176A	PLXDC1_ENST00000444911.2_Silent_p.A136A|PLXDC1_ENST00000539608.1_Silent_p.A103A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.A176A	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	176					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCAGGGGCGCCACATACT	0.527																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(526-528)gcG>gcA		plexin domain containing 1							136.0	134.0	134.0					17																	37264440		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264440C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.528G>A	17.37:g.37264440C>T						PLXDC1_ENST00000394316.2_Silent_p.A176A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.A136A|PLXDC1_ENST00000539608.1_Silent_p.A103A	p.A176A	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			5	739	-			176					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.528G>A	CCDS11333.1																																																																																				0.527	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		43	76	0	0	0	1	0	43	76				
TLL1	7092	broad.mit.edu	37	4	166999172	166999172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166999172G>A	ENST00000061240.2	+	18	3079	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R834Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	811	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R811Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTGGCCACCGAATCAAATTA	0.458																																						ENST00000061240.2																			1	Substitution - Missense(1)	p.R811Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2431-2433)cGa>cAa		tolloid-like 1							112.0	97.0	102.0					4																	166999172		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166999172G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2432G>A	4.37:g.166999172G>A	ENSP00000061240:p.Arg811Gln					TLL1_ENST00000507499.1_Missense_Mutation_p.R834Q	p.R811Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	18	3079	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	811			CUB 4.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2432G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389475	0.82902	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17528	2.27;2.27	5.78	5.78	0.91487	CUB (5);	0.000000	0.64402	U	0.000002	T	0.42494	0.1205	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.02713	-1.1120	10	0.28530	T	0.3	.	20.0215	0.97504	0.0:0.0:1.0:0.0	.	834;811	E9PD25;O43897	.;TLL1_HUMAN	Q	811;834	ENSP00000061240:R811Q;ENSP00000426082:R834Q	ENSP00000061240:R811Q	R	+	2	0	TLL1	167218622	1.000000	0.71417	0.965000	0.40720	0.138000	0.21146	9.779000	0.99018	2.735000	0.93741	0.650000	0.86243	CGA		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			9	21	0	0	0	1	0	9	21				
SNRNP35	11066	broad.mit.edu	37	12	123950644	123950644	+	Missense_Mutation	SNP	G	G	A	rs572422521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123950644G>A	ENST00000526639.2	+	2	1136	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	SNRNP35_ENST00000412157.2_Missense_Mutation_p.R191Q|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R186Q	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	186	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGCGGGAGCGATCTCGATCC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18641	0.0		0.0	False		,,,				2504	0.0					ENST00000526639.2																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(556-558)cGa>cAa		small nuclear ribonucleoprotein 35kDa (U11/U12)							45.0	51.0	49.0					12																	123950644		2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950644G>A	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.557G>A	12.37:g.123950644G>A	ENSP00000432595:p.Arg186Gln					SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R186Q|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R191Q	p.R186Q	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	1136	+			186			Arg-rich.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.557G>A	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256587	0.39896	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.34275	1.37;1.37;1.37	4.84	2.94	0.34122	.	0.306852	0.33631	N	0.004712	T	0.23846	0.0577	L	0.29908	0.895	0.31626	N	0.649664	P;B	0.39116	0.66;0.305	B;B	0.34536	0.185;0.038	T	0.14035	-1.0487	10	0.13853	T	0.58	-6.0539	15.4236	0.75035	0.0:0.2645:0.7355:0.0	.	191;186	Q16560-2;Q16560	.;U1SBP_HUMAN	Q	186;191;186	ENSP00000432595:R186Q;ENSP00000403310:R191Q;ENSP00000340774:R186Q	ENSP00000340774:R186Q	R	+	2	0	SNRNP35	122516597	1.000000	0.71417	0.601000	0.28877	0.921000	0.55340	4.986000	0.63851	0.691000	0.31592	0.555000	0.69702	CGA		0.542	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		18	33	0	0	0	1	0	18	33				
RAVER2	55225	broad.mit.edu	37	1	65234399	65234399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65234399C>T	ENST00000294428.3	+	2	388	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RAVER2_ENST00000371072.4_Nonsense_Mutation_p.R104*			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	104	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGAAATAAACGAACAGGTAA	0.299																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(310-312)Cga>Tga		ribonucleoprotein, PTB-binding 2							165.0	159.0	161.0					1																	65234399		1814	4071	5885	SO:0001587	stop_gained	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65234399C>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.310C>T	1.37:g.65234399C>T	ENSP00000294428:p.Arg104*					RAVER2_ENST00000371072.4_Nonsense_Mutation_p.R104*	p.R104*			Q9HCJ3	RAVR2_HUMAN			2	388	+			104			RRM 1.		Q6P141|Q9NPV7	Nonsense_Mutation	SNP	ENST00000294428.3	37	c.310C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.819936	0.96989	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	.	.	.	4.87	3.82	0.43975	.	0.135302	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.8586	10.4154	0.44318	0.4351:0.5649:0.0:0.0	.	.	.	.	X	104	.	ENSP00000294428:R104X	R	+	1	2	RAVER2	65006987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.282000	0.51693	2.415000	0.81967	0.655000	0.94253	CGA		0.299	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		18	56	0	0	0	1	0	18	56				
ITGA4	3676	broad.mit.edu	37	2	182376437	182376437	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182376437A>G	ENST00000397033.2	+	17	2287	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	619					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TAAACTTTGCAAGGTTTTGTG	0.299																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1855-1857)gcA>gcG		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						138.0	130.0	132.0					2																	182376437		1800	4068	5868	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182376437A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1857A>G	2.37:g.182376437A>G							p.A619A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		17	2287	+			619					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1857A>G	CCDS42788.1																																																																																				0.299	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			6	118	0	0	0	1	0	6	118				
OVGP1	5016	broad.mit.edu	37	1	111957148	111957148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111957148T>C	ENST00000369732.3	-	11	2030	c.1975A>G	c.(1975-1977)Aca>Gca	p.T659A		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	659					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAGGACTTGTTTGAGGGGTT	0.473																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1975-1977)Aca>Gca		oviductal glycoprotein 1, 120kDa							64.0	67.0	66.0					1																	111957148		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957148T>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1975A>G	1.37:g.111957148T>C	ENSP00000358747:p.Thr659Ala						p.T659A	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	2030	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	659					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1975A>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278858	0.40294	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04406	3.63	4.27	-2.98	0.05513	.	106.225000	0.00447	U	0.000087	T	0.01156	0.0038	N	0.22421	0.69	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.11329	0.006;0.006	T	0.48559	-0.9025	10	0.72032	D	0.01	.	5.3803	0.16187	0.0:0.3707:0.1535:0.4757	.	659;723	Q12889;Q59HH5	OVGP1_HUMAN;.	A	659;723;467	ENSP00000358747:T659A	ENSP00000358743:T723A	T	-	1	0	OVGP1	111758671	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.492000	0.06467	-0.641000	0.05487	-1.283000	0.01379	ACA		0.473	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		22	48	0	0	0	1	0	22	48				
SLITRK6	84189	broad.mit.edu	37	13	86369036	86369036	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369036G>A	ENST00000400286.2	-	2	2206	c.1608C>T	c.(1606-1608)agC>agT	p.S536S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	536	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTGTTCTTGCTTAACTTTT	0.463																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1606-1608)agC>agT		SLIT and NTRK-like family, member 6							87.0	87.0	87.0					13																	86369036		1982	4163	6145	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86369036G>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1608C>T	13.37:g.86369036G>A							p.S536S	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2206	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		536			LRRCT 2.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.1608C>T	CCDS41903.1																																																																																				0.463	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		13	37	0	0	0	1	0	13	37				
COG5	10466	broad.mit.edu	37	7	107052970	107052970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107052970G>A	ENST00000347053.3	-	7	789	c.739C>T	c.(739-741)Cta>Tta	p.L247L	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000393603.2_Silent_p.L247L|COG5_ENST00000297135.3_Silent_p.L247L	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	247					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCCTGCTCTAGTAGGCGCTTA	0.338																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(739-741)Cta>Tta		component of oligomeric golgi complex 5							81.0	82.0	81.0					7																	107052970		2203	4300	6503	SO:0001819	synonymous_variant	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107052970G>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.739C>T	7.37:g.107052970G>A						COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.L247L|COG5_ENST00000347053.3_Silent_p.L247L	p.L247L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			7	1010	-			247					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	ENST00000347053.3	37	c.739C>T	CCDS5743.1																																																																																				0.338	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			5	106	0	0	0	1	0	5	106				
PCSK4	54760	broad.mit.edu	37	19	1487017	1487017	+	Silent	SNP	G	G	A	rs370729908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1487017G>A	ENST00000300954.5	-	8	964	c.903C>T	c.(901-903)ggC>ggT	p.G301G	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCAGGCCGCCGTTGCCCG	0.706																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(901-903)ggC>ggT		proprotein convertase subtilisin/kexin type 4		G		1,4405	2.1+/-5.4	0,1,2202	68.0	58.0	61.0		903	-0.6	1.0	19		61	0,8598		0,0,4299	no	coding-synonymous	PCSK4	NM_017573.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		301/756	1487017	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487017G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.903C>T	19.37:g.1487017G>A							p.G301G	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	964	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	301			Catalytic (By similarity).			Silent	SNP	ENST00000300954.5	37	c.903C>T	CCDS12069.2																																																																																				0.706	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		7	49	0	0	0	1	0	7	49				
HCN3	57657	broad.mit.edu	37	1	155258092	155258092	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258092G>T	ENST00000368358.3	+	8	2171	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	721	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTGCCTCAGCGGGCAACAG	0.692																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2161-2163)caG>caT		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							23.0	23.0	23.0					1																	155258092		2199	4291	6490	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155258092G>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2163G>T	1.37:g.155258092G>T	ENSP00000357342:p.Gln721His					HCN3_ENST00000496230.1_3'UTR	p.Q721H	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	2171	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		721			Pro-rich.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.2163G>T	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	6.102	0.387159	0.11581	.	.	ENSG00000143630	ENST00000368358	D	0.97906	-4.6	5.01	3.0	0.34707	.	0.134612	0.34411	N	0.003986	D	0.83353	0.5236	N	0.04880	-0.145	0.29371	N	0.864018	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.75892	-0.3157	10	0.23302	T	0.38	.	4.2895	0.10870	0.1861:0.0:0.6335:0.1803	.	416;721	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	H	721	ENSP00000357342:Q721H	ENSP00000357342:Q721H	Q	+	3	2	HCN3	153524716	0.016000	0.18221	1.000000	0.80357	0.978000	0.69477	0.022000	0.13511	1.475000	0.48197	0.557000	0.71058	CAG		0.692	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		3	18	1	0	0.000602214	1	0.000649039	3	18				
USP49	25862	broad.mit.edu	37	6	41773953	41773953	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773953T>C	ENST00000394253.3	-	3	1098	c.769A>G	c.(769-771)Aac>Gac	p.N257D	USP49_ENST00000373010.1_Missense_Mutation_p.N257D|USP49_ENST00000297229.2_Missense_Mutation_p.N257D|USP49_ENST00000373009.3_Missense_Mutation_p.N257D|USP49_ENST00000373006.1_Missense_Mutation_p.N257D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	257	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGCCCAGGTTGCGCAGGCCC	0.647																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(769-771)Aac>Gac		ubiquitin specific peptidase 49							46.0	47.0	47.0					6																	41773953		2201	4298	6499	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773953T>C	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.769A>G	6.37:g.41773953T>C	ENSP00000377797:p.Asn257Asp					USP49_ENST00000373006.1_Missense_Mutation_p.N257D|USP49_ENST00000297229.2_Missense_Mutation_p.N257D|USP49_ENST00000373009.3_Missense_Mutation_p.N257D|USP49_ENST00000373010.1_Missense_Mutation_p.N257D	p.N257D			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1098	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		257					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.769A>G		.	.	.	.	.	.	.	.	.	.	T	19.62	3.861920	0.71949	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;D;D	0.93811	1.77;1.77;1.77;-3.29;-3.29	4.58	3.4	0.38934	.	0.045291	0.85682	D	0.000000	D	0.97198	0.9084	H	0.98133	4.155	0.51233	D	0.999914	D	0.69078	0.997	D	0.70716	0.97	D	0.97032	0.9751	10	0.87932	D	0	-10.0881	10.2708	0.43481	0.1484:0.0:0.0:0.8516	.	257	Q70CQ1-2	.	D	257	ENSP00000377797:N257D;ENSP00000362101:N257D;ENSP00000362100:N257D;ENSP00000362097:N257D;ENSP00000297229:N257D	ENSP00000297229:N257D	N	-	1	0	USP49	41881931	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.608000	0.61141	0.766000	0.33244	0.533000	0.62120	AAC		0.647	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		13	39	0	0	0	1	0	13	39				
GCNT4	51301	broad.mit.edu	37	5	74325630	74325630	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74325630T>G	ENST00000322348.4	-	1	1094	c.233A>C	c.(232-234)gAa>gCa	p.E78A		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	78					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGGCTCCTGTTCATAGATACC	0.413																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(232-234)gAa>gCa		glucosaminyl (N-acetyl) transferase 4, core 2							147.0	139.0	142.0					5																	74325630		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325630T>G	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.233A>C	5.37:g.74325630T>G	ENSP00000317027:p.Glu78Ala						p.E78A	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1094	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	78						Missense_Mutation	SNP	ENST00000322348.4	37	c.233A>C	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.153890	0.78114	.	.	ENSG00000176928	ENST00000322348	T	0.44083	0.93	5.95	5.95	0.96441	.	0.050163	0.85682	D	0.000000	T	0.49218	0.1544	L	0.61218	1.895	0.44754	D	0.997753	P	0.46395	0.877	P	0.45829	0.494	T	0.51911	-0.8645	10	0.56958	D	0.05	-19.7293	16.4237	0.83790	0.0:0.0:0.0:1.0	.	78	Q9P109	GCNT4_HUMAN	A	78	ENSP00000317027:E78A	ENSP00000317027:E78A	E	-	2	0	GCNT4	74361386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.996000	0.88334	2.279000	0.76181	0.533000	0.62120	GAA		0.413	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		54	67	0	0	0	1	0	54	67				
USP51	158880	broad.mit.edu	37	X	55515233	55515233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55515233G>A	ENST00000500968.3	-	2	222	c.140C>T	c.(139-141)gCg>gTg	p.A47V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	47					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCTCGAAGACGCCTTCGTAGC	0.667																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(139-141)gCg>gTg		ubiquitin specific peptidase 51							24.0	23.0	24.0					X																	55515233		2202	4300	6502	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55515233G>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.140C>T	X.37:g.55515233G>A	ENSP00000423333:p.Ala47Val					USP51_ENST00000586165.1_5'UTR	p.A47V	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	222	-			47					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.140C>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	7.362	0.624975	0.14257	.	.	ENSG00000247746	ENST00000500968	T	0.08008	3.14	2.24	-0.691	0.11305	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39800	-0.9596	9	0.87932	D	0	.	5.0355	0.14432	0.5482:0.0:0.4518:0.0	.	47	Q70EK9	UBP51_HUMAN	V	47	ENSP00000423333:A47V	ENSP00000423333:A47V	A	-	2	0	USP51	55531958	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.279000	0.18771	-0.310000	0.08766	0.431000	0.28591	GCG		0.667	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		9	13	0	0	0	1	0	9	13				
KIAA1683	80726	broad.mit.edu	37	19	18378152	18378152	+	Silent	SNP	C	C	T	rs200692032		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18378152C>T	ENST00000600328.3	-	3	391	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KIAA1683_ENST00000600359.3_Silent_p.P20P|KIAA1683_ENST00000392413.4_Silent_p.P66P			Q9H0B3	K1683_HUMAN	KIAA1683	66						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGCTGTTGCGGAAGATGCT	0.642																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(196-198)ccG>ccA		KIAA1683		C	,,	0,4406		0,0,2203	64.0	65.0	65.0		198,60,198	1.4	0.0	19		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	66/1368,20/1135,66/1181	18378152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18378152C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.198G>A	19.37:g.18378152C>T						KIAA1683_ENST00000600359.2_Silent_p.P20P|KIAA1683_ENST00000600328.2_Silent_p.P66P	p.P66P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	413	-			66					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.198G>A	CCDS32958.1																																																																																				0.642	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			34	55	0	0	0	1	0	34	55				
KRT26	353288	broad.mit.edu	37	17	38927952	38927952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38927952G>A	ENST00000335552.4	-	1	462	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTATGACTGAGAAGTATCTGC	0.413																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(412-414)ttC>ttT		keratin 26							78.0	79.0	79.0					17																	38927952		2203	4300	6503	SO:0001819	synonymous_variant	353288					intermediate filament	structural molecule activity	g.chr17:38927952G>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.414C>T	17.37:g.38927952G>A							p.F138F	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			1	462	-		Breast(137;0.00526)	138			Linker 1.|Rod.			Silent	SNP	ENST00000335552.4	37	c.414C>T	CCDS11374.1																																																																																				0.413	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		9	72	0	0	0	1	0	9	72				
ARHGEF37	389337	broad.mit.edu	37	5	148996239	148996239	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148996239G>C	ENST00000333677.6	+	5	731	c.568G>C	c.(568-570)Gcc>Ccc	p.A190P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	190	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGTCCCTGATGCCAGTGCCTA	0.517																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(568-570)Gcc>Ccc		Rho guanine nucleotide exchange factor (GEF) 37							108.0	104.0	105.0					5																	148996239		1969	4162	6131	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148996239G>C	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.568G>C	5.37:g.148996239G>C	ENSP00000328083:p.Ala190Pro						p.A190P	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			5	731	+			190			DH.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.568G>C	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741664	0.30865	.	.	ENSG00000183111	ENST00000333677	T	0.63744	-0.06	5.33	5.33	0.75918	Dbl homology (DH) domain (5);	0.389809	0.27640	N	0.018480	T	0.59959	0.2232	L	0.36672	1.1	0.32936	D	0.517786	P	0.40360	0.714	P	0.47891	0.56	T	0.71437	-0.4593	10	0.72032	D	0.01	-1.4398	10.2558	0.43397	0.0723:0.0:0.7906:0.1371	.	190	A1IGU5	ARH37_HUMAN	P	190	ENSP00000328083:A190P	ENSP00000328083:A190P	A	+	1	0	ARHGEF37	148976432	0.999000	0.42202	0.994000	0.49952	0.190000	0.23558	3.163000	0.50763	2.669000	0.90835	0.591000	0.81541	GCC		0.517	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		20	34	0	0	0	1	0	20	34				
MSTN	2660	broad.mit.edu	37	2	190924926	190924926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190924926C>T	ENST00000260950.4	-	2	741	c.609G>A	c.(607-609)tgG>tgA	p.W203*	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	203					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CAATGCTCTGCCAAATACCAG	0.408																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(607-609)tgG>tgA		myostatin							211.0	197.0	202.0					2																	190924926		2203	4300	6503	SO:0001587	stop_gained	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190924926C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.609G>A	2.37:g.190924926C>T	ENSP00000260950:p.Trp203*					C2orf88_ENST00000478197.1_Intron	p.W203*	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	741	-			203					A1C2J7|A1C2K0|Q6B0H2	Nonsense_Mutation	SNP	ENST00000260950.4	37	c.609G>A	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046925	0.97231	.	.	ENSG00000138379	ENST00000260950	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.299	18.9984	0.92822	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000260950:W203X	W	-	3	0	MSTN	190633171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.718000	0.92993	0.650000	0.86243	TGG		0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		39	92	0	0	0	1	0	39	92				
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12358835C>T	ENST00000269143.3	-	8	1091	c.860G>A	c.(859-861)gGa>gAa	p.G287E		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	287					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(859-861)gGa>gAa		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						95.0	85.0	88.0					18																	12358835		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358835C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.860G>A	18.37:g.12358835C>T	ENSP00000269143:p.Gly287Glu						p.G287E	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			8	1091	-			287					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.860G>A	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974236	0.92919	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.39997	1.05	5.45	5.45	0.79879	Peptidase M41, FtsH (2);	0.097562	0.64402	D	0.000001	T	0.73783	0.3631	H	0.94847	3.59	0.80722	D	1	D	0.62365	0.991	D	0.63793	0.918	T	0.80874	-0.1187	10	0.54805	T	0.06	.	19.2802	0.94050	0.0:1.0:0.0:0.0	.	287	Q9Y4W6	AFG32_HUMAN	E	287;302	ENSP00000269143:G287E	ENSP00000269143:G287E	G	-	2	0	AFG3L2	12348835	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.487000	0.81328	2.547000	0.85894	0.563000	0.77884	GGA		0.547	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		19	29	0	0	0	1	0	19	29				
DDX42	11325	broad.mit.edu	37	17	61886959	61886959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61886959C>A	ENST00000578681.1	+	12	1793	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	DDX42_ENST00000583590.1_Missense_Mutation_p.L398I|DDX42_ENST00000359353.5_Missense_Mutation_p.L279I|DDX42_ENST00000457800.2_Missense_Mutation_p.L398I|DDX42_ENST00000389924.2_Missense_Mutation_p.L398I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	398	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCTACCAATCTTCAAAGAGT	0.378																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1192-1194)Ctt>Att		DEAD (Asp-Glu-Ala-Asp) box helicase 42							246.0	214.0	225.0					17																	61886959		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61886959C>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1192C>A	17.37:g.61886959C>A	ENSP00000464050:p.Leu398Ile					DDX42_ENST00000583590.1_Missense_Mutation_p.L398I|DDX42_ENST00000457800.2_Missense_Mutation_p.L398I|DDX42_ENST00000359353.5_Missense_Mutation_p.L279I|DDX42_ENST00000389924.2_Missense_Mutation_p.L398I	p.L398I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			12	1793	+			398			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1192C>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143110	0.94560	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.20332	2.08;2.08	5.65	5.65	0.86999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	L	0.60904	1.88	0.80722	D	1	D	0.56035	0.974	P	0.59546	0.859	T	0.15838	-1.0423	10	0.87932	D	0	-16.1409	18.716	0.91675	0.0:1.0:0.0:0.0	.	398	Q86XP3	DDX42_HUMAN	I	398;398;134	ENSP00000374574:L398I;ENSP00000390121:L398I	ENSP00000352308:L134I	L	+	1	0	DDX42	59240691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.943000	0.63554	2.681000	0.91329	0.563000	0.77884	CTT		0.378	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	90	1	0	0.00307968	1	0.00325696	7	90				
ACAD9	28976	broad.mit.edu	37	3	128631414	128631414	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128631414C>A	ENST00000308982.7	+	18	1911	c.1830C>A	c.(1828-1830)gcC>gcA	p.A610A	ACAD9_ENST00000511526.1_3'UTR|KIAA1257_ENST00000511438.1_Intron|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	610						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAAGCGAGCCTATATCTGTG	0.552																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1828-1830)gcC>gcA		acyl-CoA dehydrogenase family, member 9							87.0	78.0	81.0					3																	128631414		2203	4300	6503	SO:0001819	synonymous_variant	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128631414C>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1830C>A	3.37:g.128631414C>A						ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron	p.A610A	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			18	1911	+			610					D3DNB8|Q8WXX3	Silent	SNP	ENST00000308982.7	37	c.1830C>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	C	8.631	0.893656	0.17613	.	.	ENSG00000177646	ENST00000406840	.	.	.	5.27	-1.72	0.08107	.	.	.	.	.	T	0.53481	0.1799	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52830	-0.8523	5	0.87932	D	0	.	1.9065	0.03278	0.2622:0.2446:0.3428:0.1504	.	.	.	.	H	86	.	ENSP00000384784:P86H	P	+	2	0	ACAD9	130114104	0.017000	0.18338	0.012000	0.15200	0.951000	0.60555	-0.764000	0.04735	-0.780000	0.04553	-0.229000	0.12294	CCT		0.552	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		27	55	1	0	1.2476e-16	1	1.61147e-16	27	55				
MKL2	57496	broad.mit.edu	37	16	14307467	14307467	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14307467C>T	ENST00000341243.5	+	4	309	c.309C>T	c.(307-309)caC>caT	p.H103H	MKL2_ENST00000574045.1_Silent_p.H114H|MKL2_ENST00000318282.5_Silent_p.H114H|MKL2_ENST00000573051.1_Silent_p.H63H|MKL2_ENST00000572567.1_Silent_p.H103H|MKL2_ENST00000571589.1_Silent_p.H114H			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	103					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGATGCACATTTTAGAAG	0.303																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(340-342)caC>caT		MKL/myocardin-like 2							96.0	92.0	93.0					16																	14307467		2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14307467C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.309C>T	16.37:g.14307467C>T						MKL2_ENST00000573051.1_Silent_p.H63H|MKL2_ENST00000574045.1_Silent_p.H114H|MKL2_ENST00000572567.1_Silent_p.H103H|MKL2_ENST00000318282.5_Silent_p.H114H|MKL2_ENST00000341243.5_Silent_p.H103H	p.H114H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			6	514	+			103					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.342C>T																																																																																					0.303	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		33	58	0	0	0	1	0	33	58				
AIRE	326	broad.mit.edu	37	21	45713694	45713694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45713694G>A	ENST00000291582.5	+	11	1428	c.1301G>A	c.(1300-1302)tGc>tAc	p.C434Y	AIRE_ENST00000355347.4_Missense_Mutation_p.C227Y|AIRE_ENST00000329347.4_Missense_Mutation_p.A200T	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	434					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTGCGCGTTGCGGGGTGTGC	0.706									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000291582.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(1300-1302)tGc>tAc		autoimmune regulator							60.0	54.0	56.0					21																	45713694		2200	4295	6495	SO:0001583	missense	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45713694G>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1301G>A	21.37:g.45713694G>A	ENSP00000291582:p.Cys434Tyr					AIRE_ENST00000355347.4_Missense_Mutation_p.C227Y|AIRE_ENST00000329347.4_Missense_Mutation_p.A200T	p.C434Y	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	11	1428	+			434					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.1301G>A	CCDS13706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.22|13.22	2.172923|2.172923	0.38413|0.38413	.|.	.|.	ENSG00000160224|ENSG00000160224	ENST00000329347|ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347	D|D;D	0.97016|0.94687	-4.21|-3.49;-3.49	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.239202	.|0.29814	.|N	.|0.011128	D|D	0.96103|0.96103	0.8730|0.8730	M|M	0.69823|0.69823	2.125|2.125	0.22880|0.22880	N|N	0.998614|0.998614	.|D;D	.|0.71674	.|0.998;0.976	.|D;P	.|0.65573	.|0.936;0.726	D|D	0.90512|0.90512	0.4482|0.4482	7|10	0.45353|0.87932	T|D	0.12|0	-41.6142|-41.6142	11.717|11.717	0.51659|0.51659	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|237;434	.|B2RP50;O43918	.|.;AIRE_HUMAN	T|Y	200|434;237;237;227	ENSP00000331055:A200T|ENSP00000291582:C434Y;ENSP00000347505:C227Y	ENSP00000331055:A200T|ENSP00000291582:C434Y	A|C	+|+	1|2	0|0	AIRE|AIRE	44538122|44538122	0.970000|0.970000	0.33590|0.33590	0.361000|0.361000	0.25849|0.25849	0.059000|0.059000	0.15707|0.15707	2.855000|2.855000	0.48333|0.48333	1.901000|1.901000	0.55032|0.55032	0.561000|0.561000	0.74099|0.74099	GCG|TGC		0.706	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			13	25	0	0	0	1	0	13	25				
SEC11A	23478	broad.mit.edu	37	15	85230935	85230935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85230935G>A	ENST00000268220.7	-	3	872	c.232C>T	c.(232-234)Cga>Tga	p.R78*	SEC11A_ENST00000558134.1_Nonsense_Mutation_p.R78*|SEC11A_ENST00000455959.3_Nonsense_Mutation_p.R52*|RP11-245C17.2_ENST00000558044.1_RNA|SEC11A_ENST00000560266.1_Nonsense_Mutation_p.R78*	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TCTCCCACTCGTATGGGATCT	0.388																																						ENST00000268220.7																			0				ovary(1)	1						c.(232-234)Cga>Tga		SEC11 homolog A (S. cerevisiae)							157.0	143.0	147.0					15																	85230935		1837	4095	5932	SO:0001587	stop_gained	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85230935G>A	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.232C>T	15.37:g.85230935G>A	ENSP00000268220:p.Arg78*					SEC11A_ENST00000558134.1_Nonsense_Mutation_p.R78*|SEC11A_ENST00000455959.3_Nonsense_Mutation_p.R52*|SEC11A_ENST00000560266.1_Nonsense_Mutation_p.R78*	p.R78*	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		3	872	-			78					B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Nonsense_Mutation	SNP	ENST00000268220.7	37	c.232C>T	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203379	0.79127	.	.	ENSG00000140612	ENST00000268220;ENST00000455959	.	.	.	5.59	2.35	0.29111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5295	0.56106	0.0:0.0:0.5444:0.4556	.	.	.	.	X	78;52	.	ENSP00000268220:R78X	R	-	1	2	SEC11A	83031939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.511000	0.45476	0.662000	0.31006	-0.238000	0.12139	CGA		0.388	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		43	56	0	0	0	1	0	43	56				
KCNH7	90134	broad.mit.edu	37	2	163291760	163291760	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291760A>T	ENST00000332142.5	-	8	2001	c.1902T>A	c.(1900-1902)tcT>tcA	p.S634S	KCNH7_ENST00000328032.4_Silent_p.S627S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	634					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCGTGTTAGGAGACACATTCC	0.378																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1900-1902)tcT>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						156.0	143.0	148.0					2																	163291760		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291760A>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1902T>A	2.37:g.163291760A>T						KCNH7_ENST00000328032.4_Silent_p.S627S	p.S634S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	2001	-			634					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1902T>A	CCDS2219.1																																																																																				0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		41	45	0	0	0	1	0	41	45				
LDB3	11155	broad.mit.edu	37	10	88476230	88476230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88476230G>A	ENST00000361373.4	+	9	1399	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	LDB3_ENST00000429277.2_Missense_Mutation_p.A465T|LDB3_ENST00000458213.2_Missense_Mutation_p.A350T|LDB3_ENST00000352360.5_Missense_Mutation_p.A203T|LDB3_ENST00000263066.6_Missense_Mutation_p.A350T	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						cccagcaccagcctatacccc	0.687																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1393-1395)Gcc>Acc		LIM domain binding 3							55.0	59.0	58.0					10																	88476230		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88476230G>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1378G>A	10.37:g.88476230G>A	ENSP00000355296:p.Ala460Thr					LDB3_ENST00000458213.2_Missense_Mutation_p.A350T|LDB3_ENST00000263066.6_Missense_Mutation_p.A350T|LDB3_ENST00000352360.5_Missense_Mutation_p.A203T|LDB3_ENST00000361373.4_Missense_Mutation_p.A460T	p.A465T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			10	1538	+			460						Missense_Mutation	SNP	ENST00000361373.4	37	c.1393G>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	3.989	-0.004934	0.07773	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.54279	0.81;0.67;0.58;0.67;0.59	4.32	-0.15	0.13416	.	.	.	.	.	T	0.27313	0.0670	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.22080	0.001;0.001;0.0;0.064;0.0	B;B;B;B;B	0.12837	0.001;0.003;0.001;0.008;0.001	T	0.08472	-1.0720	9	0.11485	T	0.65	.	5.8497	0.18685	0.2579:0.1392:0.6029:0.0	.	465;397;203;460;350	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	T	381;465;350;203;350;460	ENSP00000401437:A465T;ENSP00000409148:A350T;ENSP00000263067:A203T;ENSP00000263066:A350T;ENSP00000355296:A460T	ENSP00000263066:A350T	A	+	1	0	LDB3	88466210	0.017000	0.18338	0.985000	0.45067	0.226000	0.24999	-0.073000	0.11468	0.051000	0.15978	-0.143000	0.13931	GCC		0.687	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			9	19	0	0	0	1	0	9	19				
SIK3	23387	broad.mit.edu	37	11	116734430	116734430	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116734430T>C	ENST00000292055.4	-	15	1774	c.1739A>G	c.(1738-1740)cAc>cGc	p.H580R	SIK3_ENST00000375288.1_Missense_Mutation_p.T12A|SIK3_ENST00000375300.1_Missense_Mutation_p.H638R|SIK3_ENST00000446921.2_Missense_Mutation_p.H638R|SIK3_ENST00000434315.2_Missense_Mutation_p.H479R|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.H580R	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	580					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTTTTCCAGGTGAGCTTTGAA	0.577																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1912-1914)cAc>cGc		SIK family kinase 3							172.0	161.0	165.0					11																	116734430		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116734430T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1739A>G	11.37:g.116734430T>C	ENSP00000292055:p.His580Arg					SIK3_ENST00000446921.2_Missense_Mutation_p.H638R|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.H580R|SIK3_ENST00000434315.2_Missense_Mutation_p.H479R|SIK3_ENST00000375288.1_Missense_Mutation_p.T12A|SIK3_ENST00000292055.4_Missense_Mutation_p.H580R	p.H638R			Q9Y2K2	SIK3_HUMAN			15	1918	-			580			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.1913A>G	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.33|16.33	3.091543|3.091543	0.55968|0.55968	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000375288	T;T;T;T|T	0.71698|0.30714	-0.56;-0.59;-0.55;-0.17|1.52	5.53|5.53	4.39|4.39	0.52855|0.52855	Protein kinase-like domain (1);|.	0.000000|.	0.43747|.	U|.	0.000523|.	T|T	0.28665|0.28665	0.0710|0.0710	L|L	0.32530|0.32530	0.975|0.975	0.27287|0.27287	N|N	0.957952|0.957952	P;P;P|B	0.44986|0.22683	0.722;0.847;0.717|0.073	B;B;B|B	0.41813|0.29785	0.231;0.367;0.291|0.107	T|T	0.28776|0.28776	-1.0033|-1.0033	10|9	0.46703|0.87932	T|D	0.11|0	.|.	12.6576|12.6576	0.56795|0.56795	0.0:0.0:0.1382:0.8618|0.0:0.0:0.1382:0.8618	.|.	580;479;580|12	A1A5A8;A1A5A9;Q9Y2K2|Q9Y2K2-2	.;.;SIK3_HUMAN|.	R|A	638;580;580;479|12	ENSP00000364449:H638R;ENSP00000292055:H580R;ENSP00000438108:H580R;ENSP00000415873:H479R|ENSP00000364437:T12A	ENSP00000292055:H580R|ENSP00000364437:T12A	H|T	-|-	2|1	0|0	SIK3|SIK3	116239640|116239640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	0.903000|0.903000	0.36546|0.36546	0.459000|0.459000	0.35465|0.35465	CAC|ACC		0.577	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		6	183	0	0	0	1	0	6	183				
NHSL2	340527	broad.mit.edu	37	X	71359883	71359883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71359883C>T	ENST00000373677.1	+	2	2649	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	NHSL2_ENST00000510661.1_Missense_Mutation_p.R598C|NHSL2_ENST00000535692.1_Missense_Mutation_p.R463C|NHSL2_ENST00000540800.1_Missense_Mutation_p.R829C			Q5HYW2	NHSL2_HUMAN	NHS-like 2	463										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTCCGACCTACGTTCTGTTCG	0.522																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1387-1389)Cgt>Tgt		NHS-like 2							71.0	61.0	64.0					X																	71359883		2202	4299	6501	SO:0001583	missense	340527							g.chrX:71359883C>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1387C>T	X.37:g.71359883C>T	ENSP00000362781:p.Arg463Cys					NHSL2_ENST00000535692.1_Missense_Mutation_p.R463C|NHSL2_ENST00000540800.1_Missense_Mutation_p.R829C|NHSL2_ENST00000510661.1_Missense_Mutation_p.R598C	p.R463C			F5H593	F5H593_HUMAN			2	2649	+	Renal(35;0.156)		829					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.1387C>T		.	.	.	.	.	.	.	.	.	.	C	14.80	2.643146	0.47153	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.55760	1.15;0.52;0.5;0.52	5.41	5.41	0.78517	.	0.068607	0.52532	D	0.000073	T	0.58878	0.2153	M	0.65498	2.005	0.53005	D	0.999967	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.50860	0.652;0.652;0.652	T	0.64019	-0.6505	10	0.87932	D	0	-6.2993	10.3731	0.44066	0.1946:0.8054:0.0:0.0	.	829;598;463	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	C	829;463;598;463	ENSP00000444617:R829C;ENSP00000362781:R463C;ENSP00000424079:R598C;ENSP00000444914:R463C	ENSP00000362781:R463C	R	+	1	0	NHSL2	71276608	0.814000	0.29104	0.998000	0.56505	0.997000	0.91878	1.043000	0.30316	2.506000	0.84524	0.600000	0.82982	CGT		0.522	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		4	13	0	0	0	1	0	4	13				
MED13L	23389	broad.mit.edu	37	12	116444176	116444176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116444176C>T	ENST00000281928.3	-	12	2485	c.2279G>A	c.(2278-2280)gGt>gAt	p.G760D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	760						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTGGAATGACCTGGTGTAGT	0.408																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(2278-2280)gGt>gAt		mediator complex subunit 13-like							107.0	103.0	105.0					12																	116444176		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116444176C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2279G>A	12.37:g.116444176C>T	ENSP00000281928:p.Gly760Asp						p.G760D	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	12	2485	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		760					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.2279G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821766	0.50633	.	.	ENSG00000123066	ENST00000281928	T	0.74209	-0.82	5.83	5.83	0.93111	.	0.288817	0.41396	D	0.000899	T	0.59715	0.2214	N	0.24115	0.695	0.53005	D	0.999967	P	0.48834	0.916	B	0.38842	0.283	T	0.62840	-0.6769	10	0.39692	T	0.17	-16.7322	13.3368	0.60522	0.0:0.928:0.0:0.072	.	760	Q71F56	MD13L_HUMAN	D	760	ENSP00000281928:G760D	ENSP00000281928:G760D	G	-	2	0	MED13L	114928559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.086000	0.57664	2.771000	0.95319	0.591000	0.81541	GGT		0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			25	45	0	0	0	1	0	25	45				
C20orf195	79025	broad.mit.edu	37	20	62187216	62187216	+	Missense_Mutation	SNP	G	G	A	rs373437672		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187216G>A	ENST00000370098.3	+	2	292	c.200G>A	c.(199-201)cGc>cAc	p.R67H	C20orf195_ENST00000370097.1_Missense_Mutation_p.R67H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	67						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CACCACGCCCGCATGCAGCTG	0.647																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(199-201)cGc>cAc		chromosome 20 open reading frame 195		G	HIS/ARG	0,4404		0,0,2202	59.0	52.0	54.0		200	4.4	1.0	20		54	2,8598	2.2+/-6.3	0,2,4298	no	missense	C20orf195	NM_024059.2	29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign	67/319	62187216	2,13002	2202	4300	6502	SO:0001583	missense	79025							g.chr20:62187216G>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.200G>A	20.37:g.62187216G>A	ENSP00000359116:p.Arg67His					C20orf195_ENST00000370097.1_Missense_Mutation_p.R67H	p.R67H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	292	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		67						Missense_Mutation	SNP	ENST00000370098.3	37	c.200G>A	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762612	0.69763	0.0	2.33E-4	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.37	4.41	0.53225	.	0.000000	0.45126	D	0.000400	T	0.31136	0.0787	L	0.32530	0.975	0.21579	N	0.999631	B	0.24132	0.098	B	0.18871	0.023	T	0.28586	-1.0039	9	0.72032	D	0.01	-25.4821	9.8342	0.40960	0.2186:0.0:0.7814:0.0	.	67	Q9BVV2	CT195_HUMAN	H	67	.	ENSP00000359115:R67H	R	+	2	0	C20orf195	61657660	0.762000	0.28451	0.997000	0.53966	0.862000	0.49288	2.609000	0.46317	1.254000	0.44035	0.655000	0.94253	CGC		0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		14	16	0	0	0	1	0	14	16				
KMT2A	4297	broad.mit.edu	37	11	118376263	118376263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118376263C>A	ENST00000389506.5	+	27	9647	c.9647C>A	c.(9646-9648)tCt>tAt	p.S3216Y	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3219Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3178Y			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3216					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACTCCATCCTCTGGACTCAAG	0.498																																						ENST00000534358.1																			0											c.(9655-9657)tCt>tAt		lysine (K)-specific methyltransferase 2A							90.0	90.0	90.0					11																	118376263		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118376263C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9647C>A	11.37:g.118376263C>A	ENSP00000374157:p.Ser3216Tyr					KMT2A_ENST00000389506.5_Missense_Mutation_p.S3216Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3178Y	p.S3219Y	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	9679	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9656C>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283532	0.40394	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83335	-1.71;-1.71;-1.68	6.07	6.07	0.98685	.	0.309770	0.36409	N	0.002619	T	0.74718	0.3753	N	0.14661	0.345	0.45330	D	0.998321	P;P	0.49447	0.924;0.924	B;B	0.40782	0.34;0.34	T	0.78695	-0.2104	10	0.62326	D	0.03	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	3219;3216	E9PQG7;Q03164	.;MLL1_HUMAN	Y	3219;3216;3178;2126	ENSP00000436786:S3219Y;ENSP00000374157:S3216Y;ENSP00000346516:S3178Y	ENSP00000346516:S3178Y	S	+	2	0	MLL	117881473	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.720000	0.68470	2.890000	0.99128	0.585000	0.79938	TCT		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		37	35	1	0	9.58827e-17	1	1.23908e-16	37	35				
RET	5979	broad.mit.edu	37	10	43615023	43615023	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43615023C>T	ENST00000355710.3	+	14	2669	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	RET_ENST00000340058.5_Missense_Mutation_p.R813W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	813	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in HSCR1; sporadic form). {ECO:0000269|PubMed:10090908}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGGCTCCCTGCGGGGCTTCCT	0.701		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2437-2439)Cgg>Tgg		ret proto-oncogene	Sunitinib(DB01268)						13.0	15.0	14.0					10																	43615023		2200	4293	6493	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615023C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2437C>T	10.37:g.43615023C>T	ENSP00000347942:p.Arg813Trp					RET_ENST00000340058.5_Missense_Mutation_p.R813W	p.R813W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			14	2669	+		Ovarian(717;0.0423)	813		R -> Q (in HSCR1; sporadic form).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2437C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430724	0.62844	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.89552	-2.53;-2.53	5.36	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94244	0.7487	10	0.87932	D	0	.	15.2248	0.73342	0.1419:0.8581:0.0:0.0	.	559;813;813	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	W	813	ENSP00000347942:R813W;ENSP00000344798:R813W	ENSP00000344798:R813W	R	+	1	2	RET	42935029	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	2.051000	0.41307	1.223000	0.43536	0.313000	0.20887	CGG		0.701	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		7	14	0	0	0	1	0	7	14				
ARHGAP20	57569	broad.mit.edu	37	11	110485284	110485284	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110485284C>T	ENST00000260283.4	-	7	915		c.e7+1		ARHGAP20_ENST00000533353.1_Splice_Site|ARHGAP20_ENST00000524756.1_Splice_Site|ARHGAP20_ENST00000528829.1_Splice_Site|ARHGAP20_ENST00000527598.1_Splice_Site|ARHGAP20_ENST00000357139.3_Splice_Site	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAAACACTTACGTAGGCACAA	0.433																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.e7+1		Rho GTPase activating protein 20							103.0	93.0	96.0					11																	110485284		2201	4298	6499	SO:0001630	splice_region_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110485284C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.630+1G>A	11.37:g.110485284C>T						ARHGAP20_ENST00000357139.3_Splice_Site|ARHGAP20_ENST00000524756.1_Splice_Site|ARHGAP20_ENST00000527598.1_Splice_Site|ARHGAP20_ENST00000528829.1_Splice_Site|ARHGAP20_ENST00000533353.1_Splice_Site		NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	7	915	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)						A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Splice_Site	SNP	ENST00000260283.4	37		CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051991	0.93793	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2312	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP20	109990494	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.701000	0.74624	2.882000	0.98803	0.655000	0.94253	.		0.433	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	Intron	31	47	0	0	0	1	0	31	47				
TET2	54790	broad.mit.edu	37	4	106155088	106155088	+	5'UTR	SNP	G	G	A	rs531872896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155088G>A	ENST00000540549.1	+	0	849				TET2_ENST00000413648.2_5'UTR|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000380013.4_5'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.E18K|TET2_ENST00000545826.1_5'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGGCCCCGAAGCAAGCCT	0.413			"""Mis N, F"""		MDS								G|||	1	0.000199681	0.0	0.0	5008	,	,		18164	0.0		0.0	False		,,,				2504	0.001					ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(52-54)Gaa>Aaa		tet methylcytosine dioxygenase 2							50.0	41.0	44.0					4																	106155088		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155088G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.-12G>A	4.37:g.106155088G>A						TET2_ENST00000540549.1_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000545826.1_5'UTR|TET2_ENST00000413648.2_5'UTR|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000380013.4_5'UTR	p.E18K			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	849	+		Myeloproliferative disorder(5;0.0393)	0					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.52G>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963185	0.53507	.	.	ENSG00000168769	ENST00000513237	T	0.02085	4.46	5.4	5.4	0.78164	.	.	.	.	.	T	0.03011	0.0089	.	.	.	0.80722	D	1	D	0.55172	0.97	B	0.39840	0.311	T	0.50268	-0.8848	8	0.87932	D	0	.	12.0636	0.53576	0.124:0.0:0.876:0.0	.	18	E7EQS8	.	K	18	ENSP00000425443:E18K	ENSP00000425443:E18K	E	+	1	0	TET2	106374537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.463000	0.45058	2.517000	0.84864	0.591000	0.81541	GAA		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		6	17	0	0	0	1	0	6	17				
AKAP2	11217	broad.mit.edu	37	9	112899787	112899787	+	Missense_Mutation	SNP	C	C	T	rs150767444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899787C>T	ENST00000259318.7	+	2	1477	c.1270C>T	c.(1270-1272)Cgt>Tgt	p.R424C	AKAP2_ENST00000434623.2_Missense_Mutation_p.R513C|AKAP2_ENST00000374525.1_Missense_Mutation_p.R513C|AKAP2_ENST00000555236.1_Missense_Mutation_p.R655C|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R655C|AKAP2_ENST00000510514.5_Missense_Mutation_p.R655C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R655C	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	424										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GCCTTCTAAACGTGGGCCCTT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18835	0.0		0.0	False		,,,				2504	0.0					ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1963-1965)Cgt>Tgt				C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	78.0	82.0	81.0		1537,1270,1537,1963,1963	4.4	1.0	9	dbSNP_134	81	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	180,180,180,180,180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	513/949,424/860,513/962,655/1104,655/1091	112899787	3,13003	2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112899787C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1270C>T	9.37:g.112899787C>T	ENSP00000259318:p.Arg424Cys					PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R655C|AKAP2_ENST00000259318.7_Missense_Mutation_p.R424C|AKAP2_ENST00000510514.5_Missense_Mutation_p.R655C|AKAP2_ENST00000434623.2_Missense_Mutation_p.R513C|AKAP2_ENST00000374525.1_Missense_Mutation_p.R513C|AKAP2_ENST00000555236.1_Missense_Mutation_p.R655C	p.R655C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2143	+			424					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1963C>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381113	0.24944	0.0	3.49E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.46819	2.19;2.19;2.19;2.19;1.45;0.86;0.87;1.46	5.26	4.36	0.52297	.	0.494272	0.20596	N	0.089243	T	0.37892	0.1020	N	0.08118	0	0.38247	D	0.941495	B;B;B;B;B;D;D;B	0.67145	0.045;0.121;0.152;0.098;0.059;0.996;0.996;0.289	B;B;B;B;B;P;P;B	0.53861	0.003;0.006;0.009;0.005;0.002;0.736;0.736;0.032	T	0.44892	-0.9298	10	0.56958	D	0.05	-15.919	9.392	0.38378	0.1528:0.6788:0.1684:0.0	.	424;513;507;513;514;655;655;473	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	C	655;655;655;655;513;513;473;424	ENSP00000363654:R655C;ENSP00000305861:R655C;ENSP00000451476:R655C;ENSP00000421522:R655C;ENSP00000404782:R513C;ENSP00000363649:R513C;ENSP00000419268:R473C;ENSP00000259318:R424C	ENSP00000259318:R424C	R	+	1	0	PALM2-AKAP2;AKAP2	111939608	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	1.500000	0.35682	1.331000	0.45412	-0.169000	0.13324	CGT		0.577	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		41	41	0	0	0	1	0	41	41				
EPB42	2038	broad.mit.edu	37	15	43498536	43498536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43498536G>A	ENST00000441366.2	-	10	1835	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Missense_Mutation_p.A459V|EPB42_ENST00000300215.3_Missense_Mutation_p.A567V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	537					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACCCAGGTTGGCACTGAGCGT	0.622																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1699-1701)gCc>gTc		erythrocyte membrane protein band 4.2							103.0	75.0	84.0					15																	43498536		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43498536G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1610C>T	15.37:g.43498536G>A	ENSP00000396616:p.Ala537Val					EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Missense_Mutation_p.A459V|EPB42_ENST00000441366.2_Missense_Mutation_p.A537V	p.A567V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	10	2157	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	537					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1700C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767782	0.69878	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.69806	-0.43;-0.43;-0.43	4.78	1.55	0.23275	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.470987	0.23537	N	0.047114	T	0.59959	0.2232	L	0.56769	1.78	0.22457	N	0.999085	B;P;P;P	0.40360	0.392;0.533;0.478;0.714	B;B;B;B	0.41374	0.165;0.355;0.242;0.34	T	0.55798	-0.8084	10	0.87932	D	0	-7.8243	7.0081	0.24848	0.0:0.1719:0.4738:0.3543	.	459;537;567;537	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	V	567;459;537;465	ENSP00000300215:A567V;ENSP00000444699:A459V;ENSP00000396616:A537V	ENSP00000300215:A567V	A	-	2	0	EPB42	41285828	0.608000	0.26966	0.933000	0.37362	0.414000	0.31173	0.604000	0.24164	0.689000	0.31550	-0.268000	0.10319	GCC		0.622	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		13	25	0	0	0	1	0	13	25				
CHML	1122	broad.mit.edu	37	1	241798768	241798768	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241798768C>T	ENST00000366553.1	-	1	464	c.301G>A	c.(301-303)Gct>Act	p.A101T	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	101					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TAGCAAAAAGCTTCTGTGTGT	0.443																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(301-303)Gct>Act		choroideremia-like (Rab escort protein 2)							203.0	204.0	204.0					1																	241798768		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798768C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.301G>A	1.37:g.241798768C>T	ENSP00000355511:p.Ala101Thr					OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	p.A101T	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	464	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	101					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.301G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573359	0.28092	.	.	ENSG00000203668	ENST00000366553	T	0.57907	0.37	4.77	4.77	0.60923	.	0.064498	0.64402	U	0.000010	T	0.36082	0.0954	.	.	.	0.28206	N	0.927126	B	0.17465	0.022	B	0.18263	0.021	T	0.10894	-1.0610	9	0.17832	T	0.49	-5.8292	13.5145	0.61533	0.0:1.0:0.0:0.0	.	101	P26374	RAE2_HUMAN	T	101	ENSP00000355511:A101T	ENSP00000355511:A101T	A	-	1	0	CHML	239865391	0.994000	0.37717	0.999000	0.59377	0.320000	0.28249	1.584000	0.36589	2.645000	0.89757	0.650000	0.86243	GCT		0.443	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		44	286	0	0	0	1	0	44	286				
SLC43A1	8501	broad.mit.edu	37	11	57268692	57268692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57268692C>T	ENST00000278426.3	-	3	620	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A89T|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGTGGTGGCGCTGAGCACG	0.652																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(265-267)Gcc>Acc		solute carrier family 43 (amino acid system L transporter), member 1							93.0	82.0	86.0					11																	57268692		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57268692C>T	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.265G>A	11.37:g.57268692C>T	ENSP00000278426:p.Ala89Thr					SLC43A1_ENST00000528450.1_Missense_Mutation_p.A89T	p.A89T	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			3	620	-			89						Missense_Mutation	SNP	ENST00000278426.3	37	c.265G>A	CCDS7958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	31|31	5.087782|5.087782	0.94100|0.94100	.|.	.|.	ENSG00000149150|ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263|ENST00000525764	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Major facilitator superfamily domain, general substrate transporter (1);|.	0.106538|.	0.64402|.	D|.	0.000005|.	T|T	0.76343|0.76343	0.3974|0.3974	M|M	0.75777|0.75777	2.31|2.31	0.58432|0.58432	D|D	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.76421|0.76421	-0.2965|-0.2965	10|5	0.15499|.	T|.	0.54|.	-25.2077|-25.2077	17.801|17.801	0.88587|0.88587	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89|.	O75387|.	LAT3_HUMAN|.	T|H	89|34	ENSP00000278426:A89T;ENSP00000435673:A89T;ENSP00000435647:A89T;ENSP00000435486:A89T|.	ENSP00000278426:A89T|.	A|R	-|-	1|2	0|0	SLC43A1|SLC43A1	57025268|57025268	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.854000|0.854000	0.48673|0.48673	7.094000|7.094000	0.76944|0.76944	2.480000|2.480000	0.83734|0.83734	0.651000|0.651000	0.88453|0.88453	GCC|CGC		0.652	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		19	40	0	0	0	1	0	19	40				
SHBG	6462	broad.mit.edu	37	17	7536134	7536134	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536134T>A	ENST00000380450.4	+	7	948	c.917T>A	c.(916-918)cTt>cAt	p.L306H	SHBG_ENST00000575903.1_Missense_Mutation_p.L288H|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.L248H|SHBG_ENST00000572262.1_Missense_Mutation_p.L194H|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000441599.2_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	306	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GGACTCCCTCTTCAGCTGAAG	0.597											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(916-918)cTt>cAt		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						97.0	82.0	87.0					17																	7536134		2203	4300	6503	SO:0001583	missense	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7536134T>A		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.917T>A	17.37:g.7536134T>A	ENSP00000369816:p.Leu306His		OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	SHBG_ENST00000575903.1_Missense_Mutation_p.L288H|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.L194H|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.L248H|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron	p.L306H	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	7	948	+		all_cancers(10;0.0867)	306			Laminin G-like 2.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	c.917T>A	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971334	0.74246	.	.	ENSG00000129214	ENST00000380450	T	0.70282	-0.47	4.79	4.79	0.61399	Concanavalin A-like lectin/glucanase (1);	0.181949	0.34777	N	0.003683	T	0.79464	0.4450	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.76323	-0.3001	10	0.20519	T	0.43	-10.0623	10.896	0.47023	0.0:0.0:0.0:1.0	.	306	P04278	SHBG_HUMAN	H	306	ENSP00000369816:L306H	ENSP00000369816:L306H	L	+	2	0	SHBG	7476859	0.845000	0.29573	1.000000	0.80357	0.997000	0.91878	2.186000	0.42593	2.136000	0.66102	0.460000	0.39030	CTT		0.597	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		22	47	0	0	0	1	0	22	47				
GNPTG	84572	broad.mit.edu	37	16	1412896	1412896	+	Missense_Mutation	SNP	C	C	T	rs374442826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1412896C>T	ENST00000204679.4	+	10	855	c.812C>T	c.(811-813)aCg>aTg	p.T271M	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	271					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ATCCCCTACACGAGGCCCACA	0.552																																						ENST00000204679.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(811-813)aCg>aTg		N-acetylglucosamine-1-phosphate transferase, gamma subunit							75.0	83.0	80.0					16																	1412896		2199	4300	6499	SO:0001583	missense	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1412896C>T	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.812C>T	16.37:g.1412896C>T	ENSP00000204679:p.Thr271Met						p.T271M	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN			10	855	+		Hepatocellular(780;0.0893)	271					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.812C>T	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660275	0.47572	.	.	ENSG00000090581	ENST00000204679	D	0.88975	-2.45	5.04	-6.14	0.02111	.	2.271720	0.01656	N	0.024814	T	0.82047	0.4952	L	0.51422	1.61	0.09310	N	1	D	0.54207	0.965	B	0.41202	0.35	T	0.75531	-0.3285	10	0.49607	T	0.09	2.7964	1.5291	0.02532	0.1938:0.3157:0.286:0.2045	.	271	Q9UJJ9	GNPTG_HUMAN	M	271	ENSP00000204679:T271M	ENSP00000204679:T271M	T	+	2	0	GNPTG	1352897	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.760000	0.00786	-1.119000	0.02958	-0.986000	0.02555	ACG		0.552	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		32	43	0	0	0	1	0	32	43				
RSPH1	89765	broad.mit.edu	37	21	43913094	43913094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43913094G>A	ENST00000291536.3	-	2	317	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	50					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTTTTACCGAATTCGTAGC	0.507																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(148-150)ttC>ttT		radial spoke head 1 homolog (Chlamydomonas)							254.0	220.0	232.0					21																	43913094		2203	4300	6503	SO:0001819	synonymous_variant	89765				meiosis	cytosol|nucleus		g.chr21:43913094G>A	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.150C>T	21.37:g.43913094G>A						RSPH1_ENST00000398352.3_Intron	p.F50F	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN			2	317	-			50					A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	c.150C>T	CCDS13688.1																																																																																				0.507	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			95	140	0	0	0	1	0	95	140				
FTH1P3	2498	broad.mit.edu	37	5	17354443	17354443	+	lincRNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:17354443C>T	ENST00000511821.1	+	0	302				FTH1P10_ENST00000401830.3_RNA																							ACGCAGGAGGCGTAGAGCTCC	0.537																																						ENST00000511821.1																			0																																																			0							g.chr5:17354443C>T																													5.37:g.17354443C>T						FTH1P10_ENST00000401830.3_RNA								0	302	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.537	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			5	28	0	0	0	1	0	5	28				
DAK	26007	broad.mit.edu	37	11	61109300	61109300	+	Missense_Mutation	SNP	C	C	A	rs142253953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61109300C>A	ENST00000394900.3	+	7	800	c.571C>A	c.(571-573)Ctg>Atg	p.L191M		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	191	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CATAGGTACCCTGGGGGTGAG	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20954	0.0		0.0	False		,,,				2504	0.0					ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(571-573)Ctg>Atg		dihydroxyacetone kinase 2 homolog (S. cerevisiae)		C	MET/LEU	1,4405	2.1+/-5.4	0,1,2202	165.0	151.0	156.0		571	4.0	1.0	11	dbSNP_134	156	0,8598		0,0,4299	no	missense	DAK	NM_015533.3	15	0,1,6501	AA,AC,CC		0.0,0.0227,0.0077	possibly-damaging	191/576	61109300	1,13003	2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61109300C>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.571C>A	11.37:g.61109300C>A	ENSP00000378360:p.Leu191Met						p.L191M	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			7	800	+			191			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.571C>A	CCDS8003.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.098	1.003394	0.19121	2.27E-4	0.0	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.33438	1.41;1.41	5.84	3.98	0.46160	Dak kinase (2);	0.157646	0.43919	D	0.000515	T	0.17534	0.0421	N	0.04373	-0.215	0.49915	D	0.999837	P;B	0.40731	0.728;0.384	P;P	0.46917	0.525;0.531	T	0.05599	-1.0875	10	0.07482	T	0.82	-10.7346	11.7123	0.51633	0.0:0.8567:0.0:0.1433	.	191;191	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	M	191;190	ENSP00000378360:L191M;ENSP00000432539:L190M	ENSP00000378360:L191M	L	+	1	2	DAK	60865876	0.647000	0.27304	1.000000	0.80357	0.962000	0.63368	0.193000	0.17116	1.486000	0.48398	0.563000	0.77884	CTG		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		9	150	1	0	0.00621372	1	0.00652201	9	150				
PLIN4	729359	broad.mit.edu	37	19	4510834	4510834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510834G>A	ENST00000301286.3	-	3	3095	c.3096C>T	c.(3094-3096)caC>caT	p.H1032H		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1032						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGGCCAGTGTGGGTGGCCC	0.632																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(3094-3096)caC>caT		perilipin 4							73.0	82.0	79.0					19																	4510834		2133	4252	6385	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4510834G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3096C>T	19.37:g.4510834G>A							p.H1032H	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	3095	-			1032					A6NEI2	Silent	SNP	ENST00000301286.3	37	c.3096C>T	CCDS45927.1																																																																																				0.632	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		11	68	0	0	0	1	0	11	68				
MBP	4155	broad.mit.edu	37	18	74696744	74696744	+	Missense_Mutation	SNP	T	T	C	rs546073354	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74696744T>C	ENST00000397869.3	-	5	699	c.653A>G	c.(652-654)aAa>aGa	p.K218R	MBP_ENST00000359645.3_Missense_Mutation_p.K168R|MBP_ENST00000528160.1_Missense_Mutation_p.K37E|MBP_ENST00000382582.3_Missense_Mutation_p.K179R|MBP_ENST00000354542.4_Intron|MBP_ENST00000527041.1_Intron|MBP_ENST00000579129.1_Intron|MBP_ENST00000526111.1_Missense_Mutation_p.K131R|RP11-862L9.3_ENST00000582546.1_RNA|MBP_ENST00000578193.1_Missense_Mutation_p.K153R|MBP_ENST00000355994.2_Missense_Mutation_p.K286R|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000397866.4_Missense_Mutation_p.K153R|MBP_ENST00000397875.3_Missense_Mutation_p.K163R|RP11-862L9.3_ENST00000580580.1_RNA|MBP_ENST00000397865.5_Missense_Mutation_p.K142R|MBP_ENST00000580402.1_Missense_Mutation_p.K286R			P13727	PRG2_HUMAN	myelin basic protein	0	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CTTAAAAATTTTGGAAAGCGT	0.557													T|||	2	0.000399361	0.0008	0.0	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.001				NSCLC(17;72 1131 19392)	ENST00000355994.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(856-858)aAa>aGa		myelin basic protein							74.0	77.0	76.0					18																	74696744		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74696744T>C		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.653A>G	18.37:g.74696744T>C	ENSP00000380967:p.Lys218Arg					MBP_ENST00000578193.1_Missense_Mutation_p.K153R|MBP_ENST00000580402.1_Missense_Mutation_p.K286R|MBP_ENST00000397865.5_Missense_Mutation_p.K142R|MBP_ENST00000526111.1_Missense_Mutation_p.K131R|MBP_ENST00000382582.3_Missense_Mutation_p.K179R|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.K218R|MBP_ENST00000354542.4_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.K163R|MBP_ENST00000359645.3_Missense_Mutation_p.K168R|MBP_ENST00000579129.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.K153R|MBP_ENST00000528160.1_Missense_Mutation_p.K37E	p.K286R	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	8	1120	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	286					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.857A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.086|2.086	-0.409497|-0.409497	0.04799|0.04799	.|.	.|.	ENSG00000197971|ENSG00000197971	ENST00000528160|ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.|.	.|.	.|.	4.71|4.71	-6.58|-6.58	0.01836|0.01836	.|.	0.219123|0.219123	0.29876|0.29876	N|N	0.010978|0.010978	T|T	0.30978|0.30978	0.0782|0.0782	L|L	0.36672|0.36672	1.1|1.1	0.26537|0.26537	N|N	0.974153|0.974153	.|B;B;B;B	.|0.09022	.|0.001;0.001;0.002;0.002	.|B;B;B;B	.|0.12156	.|0.007;0.001;0.005;0.003	T|T	0.08269|0.08269	-1.0730|-1.0730	7|9	0.87932|0.17369	D|T	0|0.5	3.2676|3.2676	15.5994|15.5994	0.76613|0.76613	0.0:0.5531:0.0:0.4469|0.0:0.5531:0.0:0.4469	.|.	.|286;142;168;179	.|P02686;P02686-6;P02686-4;P02686-3	.|MBP_HUMAN;.;.;.	E|R	37|179;286;163;153;142;168;218;131;153;97	.|.	ENSP00000436830:K37E|ENSP00000348273:K286R	K|K	-|-	1|2	0|0	MBP|MBP	72825732|72825732	0.459000|0.459000	0.25768|0.25768	0.806000|0.806000	0.32338|0.32338	0.214000|0.214000	0.24535|0.24535	-0.903000|-0.903000	0.04084|0.04084	-2.071000|-2.071000	0.00880|0.00880	-1.777000|-1.777000	0.00654|0.00654	AAA|AAA		0.557	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		4	49	0	0	0	1	0	4	49				
DRAXIN	374946	broad.mit.edu	37	1	11775175	11775175	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11775175G>T	ENST00000294485.5	+	6	982		c.e6-1			NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		TGTGTTGGCAGGGACTTGCTG	0.607																																						ENST00000294485.5																			0											c.e6-1		dorsal inhibitory axon guidance protein							128.0	102.0	111.0					1																	11775175		2203	4300	6503	SO:0001630	splice_region_variant	374946							g.chr1:11775175G>T	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.848-1G>T	1.37:g.11775175G>T								NM_198545.3	NP_940947.3					6	982	+									Splice_Site	SNP	ENST00000294485.5	37		CCDS135.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593301	0.66219	.	.	ENSG00000162490	ENST00000294485	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1232	0.86707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf187	11697762	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	9.118000	0.94355	2.273000	0.75805	0.561000	0.74099	.		0.607	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545	Intron	4	35	1	0	1.024e-07	1	1.214e-07	4	35				
BGN	633	broad.mit.edu	37	X	152770099	152770099	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152770099C>A	ENST00000331595.4	+	2	196	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	4					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGTGGCCCCTGTGGCGCCT	0.632																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(10-12)Ctg>Atg		biglycan							54.0	48.0	50.0					X																	152770099		2202	4298	6500	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770099C>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.10C>A	X.37:g.152770099C>A	ENSP00000327336:p.Leu4Met					BGN_ENST00000370204.1_5'UTR|BGN_ENST00000480756.1_3'UTR	p.L4M	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			2	196	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		4					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.10C>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983097	0.34942	.	.	ENSG00000182492	ENST00000331595;ENST00000431891	T;T	0.70516	0.36;-0.49	4.54	3.65	0.41850	.	0.602840	0.15562	N	0.255883	T	0.61274	0.2334	L	0.43152	1.355	0.80722	D	1	B	0.28512	0.214	B	0.31751	0.135	T	0.57183	-0.7855	10	0.48119	T	0.1	-4.6922	6.358	0.21412	0.1849:0.7166:0.0:0.0985	.	4	P21810	PGS1_HUMAN	M	4	ENSP00000327336:L4M;ENSP00000402525:L4M	ENSP00000327336:L4M	L	+	1	2	BGN	152423293	0.007000	0.16637	0.929000	0.37066	0.077000	0.17291	0.225000	0.17757	0.815000	0.34398	0.529000	0.55759	CTG		0.632	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		4	31	1	0	0.00024832	1	0.0002712	4	31				
MBP	4155	broad.mit.edu	37	18	74696810	74696810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74696810C>T	ENST00000397869.3	-	5	633	c.587G>A	c.(586-588)aGa>aAa	p.R196K	MBP_ENST00000359645.3_Missense_Mutation_p.R146K|MBP_ENST00000528160.1_Intron|MBP_ENST00000382582.3_Missense_Mutation_p.R157K|MBP_ENST00000354542.4_Intron|MBP_ENST00000527041.1_Intron|MBP_ENST00000579129.1_Intron|MBP_ENST00000526111.1_Missense_Mutation_p.R109K|RP11-862L9.3_ENST00000582546.1_RNA|MBP_ENST00000578193.1_Missense_Mutation_p.R131K|MBP_ENST00000355994.2_Missense_Mutation_p.R264K|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000397866.4_Missense_Mutation_p.R131K|MBP_ENST00000397875.3_Missense_Mutation_p.R141K|RP11-862L9.3_ENST00000580580.1_RNA|MBP_ENST00000397865.5_Missense_Mutation_p.R120K|MBP_ENST00000580402.1_Missense_Mutation_p.R264K			P13727	PRG2_HUMAN	myelin basic protein	0	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GTCGGACGCTCTGCCTCCGTA	0.582																																					NSCLC(17;72 1131 19392)	ENST00000355994.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(790-792)aGa>aAa		myelin basic protein							87.0	84.0	85.0					18																	74696810		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74696810C>T		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.587G>A	18.37:g.74696810C>T	ENSP00000380967:p.Arg196Lys					MBP_ENST00000578193.1_Missense_Mutation_p.R131K|MBP_ENST00000580402.1_Missense_Mutation_p.R264K|MBP_ENST00000397865.5_Missense_Mutation_p.R120K|MBP_ENST00000526111.1_Missense_Mutation_p.R109K|MBP_ENST00000382582.3_Missense_Mutation_p.R157K|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.R196K|MBP_ENST00000354542.4_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.R141K|MBP_ENST00000359645.3_Missense_Mutation_p.R146K|MBP_ENST00000579129.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.R131K|MBP_ENST00000528160.1_Intron	p.R264K	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	8	1054	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	264					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.791G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056406	0.76074	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.71	4.71	0.59529	.	0.137358	0.32608	N	0.005861	T	0.48132	0.1483	N	0.19112	0.55	0.23661	N	0.997179	P;D;D;D	0.63880	0.951;0.959;0.993;0.993	P;D;D;D	0.77557	0.76;0.937;0.99;0.99	T	0.41378	-0.9512	9	0.34782	T	0.22	-1.4365	14.815	0.70028	0.0:1.0:0.0:0.0	.	264;120;146;157	P02686;P02686-6;P02686-4;P02686-3	MBP_HUMAN;.;.;.	K	157;264;141;131;120;146;196;109;131;75	.	ENSP00000348273:R264K	R	-	2	0	MBP	72825798	0.999000	0.42202	0.853000	0.33588	0.939000	0.58152	2.735000	0.47377	2.148000	0.66965	0.462000	0.41574	AGA		0.582	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		4	67	0	0	0	1	0	4	67				
EXOG	9941	broad.mit.edu	37	3	38537902	38537902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38537902G>A	ENST00000287675.5	+	1	140	c.44G>A	c.(43-45)cGt>cAt	p.R15H	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.R15H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	15					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGTTCCCGTCGTTTTCTGAGC	0.682											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(43-45)cGt>cAt		endo/exonuclease (5'-3'), endonuclease G-like							50.0	51.0	51.0					3																	38537902		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38537902G>A	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.44G>A	3.37:g.38537902G>A	ENSP00000287675:p.Arg15His		OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.R15H	p.R15H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			1	140	+			15					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.44G>A	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128870	0.77549	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.56941	0.8;0.43	5.04	-1.06	0.10002	.	0.344834	0.28011	N	0.016944	T	0.34513	0.0900	L	0.36672	1.1	0.21802	N	0.999534	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.15954	-1.0419	10	0.59425	D	0.04	-4.0E-4	4.5092	0.11903	0.4085:0.0:0.447:0.1445	.	15;15	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	H	15	ENSP00000287675:R15H;ENSP00000404305:R15H	ENSP00000287675:R15H	R	+	2	0	EXOG	38512906	0.752000	0.28338	0.000000	0.03702	0.172000	0.22775	1.302000	0.33459	-0.433000	0.07286	-0.136000	0.14681	CGT		0.682	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		18	16	0	0	0	1	0	18	16				
LIPH	200879	broad.mit.edu	37	3	185251378	185251378	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185251378T>C	ENST00000296252.4	-	3	648	c.507A>G	c.(505-507)ggA>ggG	p.G169G	LIPH_ENST00000424591.2_Silent_p.G169G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	169					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCCCAGCCATCCATCGTACA	0.493																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(505-507)ggA>ggG		lipase, member H							166.0	148.0	154.0					3																	185251378		2203	4300	6503	SO:0001819	synonymous_variant	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185251378T>C	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.507A>G	3.37:g.185251378T>C						LIPH_ENST00000424591.2_Silent_p.G169G	p.G169G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		3	648	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		169					A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	37	c.507A>G	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	T	2.175	-0.388903	0.04932	.	.	ENSG00000163898	ENST00000452897	.	.	.	5.39	0.0297	0.14164	.	.	.	.	.	T	0.43322	0.1242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21827	-1.0234	4	.	.	.	-17.7924	3.1942	0.06628	0.1873:0.2015:0.4513:0.1599	.	.	.	.	G	24	.	.	D	-	2	0	LIPH	186734072	0.000000	0.05858	0.787000	0.31911	0.331000	0.28603	-1.681000	0.01937	-0.020000	0.14032	-0.242000	0.12053	GAT		0.493	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			13	71	0	0	0	1	0	13	71				
KIAA1217	56243	broad.mit.edu	37	10	24835130	24835130	+	Silent	SNP	C	C	T	rs138680991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24835130C>T	ENST00000376454.3	+	21	5739	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Silent_p.S1309S|KIAA1217_ENST00000376462.1_Silent_p.S1224S|KIAA1217_ENST00000376452.3_Silent_p.S1334S|KIAA1217_ENST00000376451.2_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1903	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ctgcctcctccgtctcACTGA	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(5707-5709)tcC>tcT		KIAA1217		C	,,	2,4404	4.2+/-10.8	0,2,2201	104.0	89.0	94.0		3672,3807,5709	3.6	0.7	10	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	1224/1265,1269/1310,1903/1944	24835130	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24835130C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5709C>T	10.37:g.24835130C>T						KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Silent_p.S1309S|KIAA1217_ENST00000376452.3_Silent_p.S1334S|KIAA1217_ENST00000376462.1_Silent_p.S1224S	p.S1903S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			21	5739	+			1903			Ser-rich.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.5709C>T	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		25	18	0	0	0	1	0	25	18				
PDE4DIP	9659	broad.mit.edu	37	1	144906428	144906428	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906428A>T	ENST00000369354.3	-	18	2618	c.2429T>A	c.(2428-2430)cTc>cAc	p.L810H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L947H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L947H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L973H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L973H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L810H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L876H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L597H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	810					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACCTTTATGAGATCTTCTTT	0.443			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2917-2919)cTc>cAc		phosphodiesterase 4D interacting protein							113.0	114.0	114.0					1																	144906428		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144906428A>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2429T>A	1.37:g.144906428A>T	ENSP00000358360:p.Leu810His					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L947H|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L810H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L876H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L973H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L597H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L947H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L810H	p.L973H			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	14	3357	-			810					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2918T>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726841	0.69074	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.13901	4.48;4.62;4.62;4.62;4.63;3.66;3.66;2.58;2.57;2.55	6.07	6.07	0.98685	.	.	.	.	.	T	0.15565	0.0375	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.83275	0.935;0.951;0.957;0.996;0.987	T	0.10613	-1.0622	9	0.26408	T	0.33	.	14.7241	0.69329	1.0:0.0:0.0:0.0	.	973;810;973;876;810	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	H	876;810;810;973;947;947;810;810;973;973;597	ENSP00000327209:L876H;ENSP00000358360:L810H;ENSP00000358363:L810H;ENSP00000435654:L947H;ENSP00000358366:L947H;ENSP00000358357:L810H;ENSP00000358355:L810H;ENSP00000316434:L973H;ENSP00000433392:L973H;ENSP00000436791:L597H	ENSP00000327209:L876H	L	-	2	0	PDE4DIP	143617785	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.418000	0.73341	2.360000	0.80028	0.519000	0.50382	CTC		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		25	147	0	0	0	1	0	25	147				
CHP2	63928	broad.mit.edu	37	16	23767169	23767169	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23767169C>T	ENST00000300113.2	+	3	565	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTTTGCAGCCGCATGGATCT	0.567																																						ENST00000300113.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.e3-1		calcineurin-like EF-hand protein 2							40.0	47.0	44.0					16																	23767169		2197	4300	6497	SO:0001630	splice_region_variant	63928						calcium ion binding	g.chr16:23767169C>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.141-1C>T	16.37:g.23767169C>T							p.R48_splice	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	3	565	+			48			EF-hand 1.		A8K2I8	Splice_Site	SNP	ENST00000300113.2	37	c.140_splice	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605618	0.87157	.	.	ENSG00000166869	ENST00000300113	T	0.69685	-0.42	4.65	4.65	0.58169	EF-hand-like domain (1);	0.071753	0.56097	D	0.000035	T	0.80914	0.4715	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.80553	-0.1331	10	0.39692	T	0.17	-13.3438	15.4033	0.74858	0.0:1.0:0.0:0.0	.	48	O43745	CHP2_HUMAN	C	48	ENSP00000300113:R48C	ENSP00000300113:R48C	R	+	1	0	AC130454.2	23674670	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.060000	0.64312	2.567000	0.86603	0.591000	0.81541	CGC		0.567	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097	Missense_Mutation	20	33	0	0	0	1	0	20	33				
ABCB11	8647	broad.mit.edu	37	2	169780225	169780225	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169780225C>A	ENST00000263817.6	-	28	3997	c.3873G>T	c.(3871-3873)caG>caT	p.Q1291H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1291	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCACCACCCCCTGTGCCATGA	0.522																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(3871-3873)caG>caT		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						141.0	142.0	141.0					2																	169780225		2079	4243	6322	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169780225C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3873G>T	2.37:g.169780225C>A	ENSP00000263817:p.Gln1291His						p.Q1291H	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			28	3997	-			1291			ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3873G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280588	0.40294	.	.	ENSG00000073734	ENST00000263817	D	0.85013	-1.93	5.86	2.41	0.29592	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050797	0.85682	D	0.000000	T	0.72358	0.3450	N	0.17674	0.51	0.43714	D	0.996188	B;B	0.14805	0.004;0.011	B;B	0.14023	0.005;0.01	T	0.65631	-0.6121	10	0.56958	D	0.05	.	7.8632	0.29522	0.0:0.3384:0.0:0.6616	.	709;1291	B4DZQ8;O95342	.;ABCBB_HUMAN	H	1291	ENSP00000263817:Q1291H	ENSP00000263817:Q1291H	Q	-	3	2	ABCB11	169488471	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.635000	0.24629	0.674000	0.31244	0.650000	0.86243	CAG		0.522	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		5	58	1	0	0.014758	1	0.0152625	5	58				
OR5B2	390190	broad.mit.edu	37	11	58190027	58190027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58190027C>T	ENST00000302581.2	-	1	759	c.708G>A	c.(706-708)ttG>ttA	p.L236L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACAGGTGGACAATGCTTTTT	0.428																																						ENST00000302581.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(706-708)ttG>ttA		olfactory receptor, family 5, subfamily B, member 2							117.0	109.0	112.0					11																	58190027		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190027C>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.708G>A	11.37:g.58190027C>T							p.L236L	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	759	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	236					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.708G>A	CCDS31550.1																																																																																				0.428	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		6	66	0	0	0	1	0	6	66				
DCC	1630	broad.mit.edu	37	18	50683750	50683750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50683750C>A	ENST00000442544.2	+	8	1902	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	DCC_ENST00000581580.1_Missense_Mutation_p.P84H|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.P277H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	429					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P429H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGTCCTCCCTTCGGCTCCC	0.542																																						ENST00000442544.2																			1	Substitution - Missense(1)	p.P429H(1)	kidney(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1285-1287)cCt>cAt		deleted in colorectal carcinoma							191.0	178.0	183.0					18																	50683750		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50683750C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1286C>A	18.37:g.50683750C>A	ENSP00000389140:p.Pro429His					DCC_ENST00000412726.1_Missense_Mutation_p.P277H|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.P84H	p.P429H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	8	1902	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	429			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1286C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857617	0.51376	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.67523	-0.22;-0.27	5.34	5.34	0.76211	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.89347	0.6689	H	0.98507	4.25	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93441	0.6794	10	0.87932	D	0	.	17.8248	0.88661	0.0:1.0:0.0:0.0	.	277;277;429	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	429;362;277	ENSP00000389140:P429H;ENSP00000397322:P277H	ENSP00000304146:P362H	P	+	2	0	DCC	48937748	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.027000	0.76463	2.510000	0.84645	0.561000	0.74099	CCT		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		15	148	1	0	1.15088e-07	1	1.35723e-07	15	148				
ENTHD1	150350	broad.mit.edu	37	22	40161424	40161424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40161424C>A	ENST00000325157.6	-	6	1273	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	341										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGCTGATAAACTCCTCTTTAC	0.398																																						ENST00000325157.6																			0				breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(1021-1023)gaG>gaT		ENTH domain containing 1							109.0	105.0	107.0					22																	40161424		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40161424C>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1023G>T	22.37:g.40161424C>A	ENSP00000317431:p.Glu341Asp						p.E341D	NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN			6	1273	-	Melanoma(58;0.0749)		341					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1023G>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968992	0.34754	.	.	ENSG00000176177	ENST00000325157	T	0.56941	0.43	5.91	1.39	0.22231	.	0.091919	0.45126	D	0.000386	T	0.43722	0.1260	N	0.20986	0.625	0.24027	N	0.996123	D	0.61697	0.99	P	0.53593	0.73	T	0.31138	-0.9954	10	0.28530	T	0.3	-12.9031	8.1308	0.31027	0.0:0.6693:0.0:0.3307	.	341	Q8IYW4	ENTD1_HUMAN	D	341	ENSP00000317431:E341D	ENSP00000317431:E341D	E	-	3	2	ENTHD1	38491370	0.566000	0.26618	0.506000	0.27664	0.817000	0.46193	0.415000	0.21181	0.363000	0.24346	-0.302000	0.09304	GAG		0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		9	100	1	0	0.000442599	1	0.00048047	9	100				
GPR15	2838	broad.mit.edu	37	3	98251792	98251792	+	Silent	SNP	C	C	T	rs372998811		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98251792C>T	ENST00000284311.3	+	1	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	305					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTATATCTTCGACAGCTACA	0.473																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(913-915)ttC>ttT		G protein-coupled receptor 15		C		1,4405	2.1+/-5.4	0,1,2202	81.0	81.0	81.0		915	1.5	1.0	3		81	0,8600		0,0,4300	no	coding-synonymous	GPR15	NM_005290.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		305/361	98251792	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251792C>T		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.915C>T	3.37:g.98251792C>T							p.F305F	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	1050	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	305					Q3MIL4|Q6ISN6	Silent	SNP	ENST00000284311.3	37	c.915C>T	CCDS2931.1																																																																																				0.473	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			25	46	0	0	0	1	0	25	46				
NOL11	25926	broad.mit.edu	37	17	65732040	65732040	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65732040T>A	ENST00000253247.4	+	9	1070	c.955T>A	c.(955-957)Ttt>Att	p.F319I	NOL11_ENST00000535137.1_Missense_Mutation_p.F137I	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	319					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAACATTTGTTTATGCTACA	0.348																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(955-957)Ttt>Att		nucleolar protein 11							133.0	123.0	126.0					17																	65732040		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65732040T>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.955T>A	17.37:g.65732040T>A	ENSP00000253247:p.Phe319Ile					NOL11_ENST00000535137.1_Missense_Mutation_p.F137I	p.F319I	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		9	1070	+	all_cancers(12;1.54e-10)		319					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.955T>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639007	0.67130	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.54279	0.58	5.24	4.15	0.48705	.	0.102647	0.64402	D	0.000002	T	0.67258	0.2874	M	0.74258	2.255	0.45718	D	0.998627	D	0.76494	0.999	D	0.66084	0.941	T	0.68243	-0.5460	10	0.72032	D	0.01	-10.4906	8.6853	0.34234	0.0:0.089:0.0:0.911	.	319	Q9H8H0	NOL11_HUMAN	I	319;137	ENSP00000253247:F319I	ENSP00000253247:F319I	F	+	1	0	NOL11	63162502	1.000000	0.71417	0.328000	0.25416	0.541000	0.35023	6.552000	0.73914	0.827000	0.34685	0.460000	0.39030	TTT		0.348	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		24	29	0	0	0	1	0	24	29				
CA11	770	broad.mit.edu	37	19	49142710	49142710	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49142710G>A	ENST00000084798.4	-	7	1326	c.647C>T	c.(646-648)gCc>gTc	p.A216V	DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	216						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AAGAAAGTAGGCATCATCTGC	0.572																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(646-648)gCc>gTc		carbonic anhydrase XI							88.0	88.0	88.0					19																	49142710		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49142710G>A	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.647C>T	19.37:g.49142710G>A	ENSP00000084798:p.Ala216Val					SEC1P_ENST00000430145.2_RNA	p.A216V	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	7	1326	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	216					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.647C>T	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992020	0.74703	.	.	ENSG00000063180	ENST00000084798	T	0.70631	-0.5	3.22	3.22	0.36961	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.205916	0.41396	D	0.000882	T	0.70281	0.3206	L	0.42245	1.32	0.45733	D	0.998635	P	0.46512	0.879	P	0.53006	0.715	T	0.71699	-0.4514	10	0.54805	T	0.06	.	10.0814	0.42393	0.0:0.0:1.0:0.0	.	216	O75493	CAH11_HUMAN	V	216	ENSP00000084798:A216V	ENSP00000084798:A216V	A	-	2	0	CA11	53834522	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	8.056000	0.89455	1.802000	0.52723	0.455000	0.32223	GCC		0.572	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		13	35	0	0	0	1	0	13	35				
PYCRL	65263	broad.mit.edu	37	8	144689168	144689168	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144689168G>T	ENST00000220966.6	-	3	356	c.327C>A	c.(325-327)atC>atA	p.I109I	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	97					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CGGACACCAAGATGTGTTCAG	0.612																																						ENST00000220966.6																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(325-327)atC>atA		pyrroline-5-carboxylate reductase-like							73.0	67.0	69.0					8																	144689168		2203	4300	6503	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144689168G>T	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.327C>A	8.37:g.144689168G>T						PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	p.I109I	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		3	356	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		97					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.327C>A	CCDS6407.2																																																																																				0.612	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		8	45	1	0	0.000274275	1	0.000298791	8	45				
FUNDC2P2	388965	broad.mit.edu	37	2	84518368	84518368	+	RNA	SNP	C	C	T	rs531263791		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:84518368C>T	ENST00000331369.5	+	0	562									FUN14 domain containing 2 pseudogene 2																		GGGGATTTTTCGGAGGCTTTC	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20686	0.0		0.0	False		,,,				2504	0.0					ENST00000331369.5																			0																																																			0							g.chr2:84518368C>T			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518368C>T														0	562	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.458	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		53	78	0	0	0	1	0	53	78				
ECM2	1842	broad.mit.edu	37	9	95277058	95277058	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277058T>C	ENST00000344604.5	-	4	1058	c.909A>G	c.(907-909)cgA>cgG	p.R303R	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R281R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GAAGCGGGGATCGAGAGGGCA	0.607																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(907-909)cgA>cgG		extracellular matrix protein 2, female organ and adipocyte specific							255.0	188.0	211.0					9																	95277058		2203	4300	6503	SO:0001819	synonymous_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95277058T>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.909A>G	9.37:g.95277058T>C						CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R281R	p.R303R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	1058	-			303					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	c.909A>G	CCDS6698.1																																																																																				0.607	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		4	41	0	0	0	1	0	4	41				
TBC1D12	23232	broad.mit.edu	37	10	96162399	96162399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96162399G>A	ENST00000225235.4	+	1	139	c.29G>A	c.(28-30)tGc>tAc	p.C10Y		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	10							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCGGAGCCTGCTCGGGAAGA	0.692																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(28-30)tGc>tAc		TBC1 domain family, member 12							11.0	13.0	12.0					10																	96162399		1781	3938	5719	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96162399G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.29G>A	10.37:g.96162399G>A	ENSP00000225235:p.Cys10Tyr						p.C10Y	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			1	139	+		Colorectal(252;0.0429)	10					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.29G>A	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971010	0.74246	.	.	ENSG00000108239	ENST00000225235	T	0.24350	1.86	4.36	4.36	0.52297	.	0.248223	0.30311	N	0.009919	T	0.26085	0.0636	N	0.24115	0.695	0.30536	N	0.766946	D	0.56968	0.978	P	0.51615	0.675	T	0.09250	-1.0683	10	0.72032	D	0.01	-8.6968	12.2384	0.54528	0.0:0.0:1.0:0.0	.	10	O60347	TBC12_HUMAN	Y	10	ENSP00000225235:C10Y	ENSP00000225235:C10Y	C	+	2	0	TBC1D12	96152389	0.993000	0.37304	1.000000	0.80357	0.886000	0.51366	1.849000	0.39318	2.275000	0.75901	0.305000	0.20034	TGC		0.692	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			5	13	0	0	0	1	0	5	13				
MS4A10	341116	broad.mit.edu	37	11	60567302	60567302	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60567302C>T	ENST00000308287.1	+	8	820	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	242						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ttcatgcaggctcagagaagt	0.463																																						ENST00000308287.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						c.e8-1		membrane-spanning 4-domains, subfamily A, member 10							75.0	76.0	76.0					11																	60567302		2203	4299	6502	SO:0001630	splice_region_variant	341116					integral to membrane	receptor activity	g.chr11:60567302C>T	AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.723-1C>T	11.37:g.60567302C>T							p.L242_splice	NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN			8	820	+			242					B2RP45|Q96PG3	Splice_Site	SNP	ENST00000308287.1	37	c.722_splice	CCDS7992.1	.	.	.	.	.	.	.	.	.	.	C	6.458	0.452594	0.12283	.	.	ENSG00000172689	ENST00000308287	T	0.30981	1.51	2.45	0.44	0.16572	.	.	.	.	.	T	0.17408	0.0418	N	0.14661	0.345	0.09310	N	1	P	0.36065	0.535	B	0.34722	0.188	T	0.13872	-1.0493	9	0.66056	D	0.02	.	8.8333	0.35098	0.3883:0.6117:0.0:0.0	.	242	Q96PG2	M4A10_HUMAN	F	242	ENSP00000311862:L242F	ENSP00000311862:L242F	L	+	1	0	MS4A10	60323878	0.011000	0.17503	0.005000	0.12908	0.179000	0.23085	0.239000	0.18023	-0.158000	0.11040	-1.473000	0.01005	CTC		0.463	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893	Missense_Mutation	4	4	0	0	0	1	0	4	4				
NEK3	4752	broad.mit.edu	37	13	52726773	52726773	+	Missense_Mutation	SNP	G	G	A	rs138876819	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52726773G>A	ENST00000400357.2	-	4	1657	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NEK3_ENST00000378101.2_Missense_Mutation_p.R122C|NEK3_ENST00000339406.3_Missense_Mutation_p.R122C|NEK3_ENST00000452082.2_Missense_Mutation_p.R143C			P51956	NEK3_HUMAN	NIMA-related kinase 3	122	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs56190615). {ECO:0000269|PubMed:17344846}.		mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTAGCACACGTTTCTTGTGA	0.353													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18084	0.0		0.0	False		,,,				2504	0.0					ENST00000452082.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18						c.(427-429)Cgt>Tgt		NIMA-related kinase 3		G	CYS/ARG,CYS/ARG	4,3682		0,4,1839	166.0	151.0	155.0		364,364	3.0	1.0	13	dbSNP_134	155	0,8194		0,0,4097	no	missense,missense	NEK3	NM_001146099.1,NM_152720.2	180,180	0,4,5936	AA,AG,GG		0.0,0.1085,0.0337	probably-damaging,probably-damaging	122/490,122/507	52726773	4,11876	1843	4097	5940	SO:0001583	missense	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52726773G>A	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.364C>T	13.37:g.52726773G>A	ENSP00000383210:p.Arg122Cys					NEK3_ENST00000378101.2_Missense_Mutation_p.R122C|NEK3_ENST00000400357.2_Missense_Mutation_p.R122C|NEK3_ENST00000339406.3_Missense_Mutation_p.R122C	p.R143C			P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	4	1657	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	122			Interaction with VAV2.|Protein kinase.		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	c.427C>T	CCDS53871.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.95	2.983255	0.53827	0.001085	0.0	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.51574	1.77;1.77;1.77;1.77;0.7	5.92	3.01	0.34805	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000020	T	0.64483	0.2602	.	.	.	0.51767	D	0.999933	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.75020	0.932;0.985;0.975	T	0.65598	-0.6129	9	0.72032	D	0.01	.	8.5265	0.33309	0.1327:0.0:0.6663:0.201	.	122;143;116	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	C	122;122;122;143;116	ENSP00000339429:R122C;ENSP00000367341:R122C;ENSP00000383210:R122C;ENSP00000404197:R143C;ENSP00000448716:R116C	ENSP00000448782:R122C	R	-	1	0	NEK3	51624774	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	1.485000	0.35519	0.854000	0.35336	-0.137000	0.14449	CGT		0.353	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			17	44	0	0	0	1	0	17	44				
PAX7	5081	broad.mit.edu	37	1	19029660	19029660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19029660C>T	ENST00000375375.3	+	7	1623	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	PAX7_ENST00000400661.3_Missense_Mutation_p.A340V|PAX7_ENST00000420770.2_Missense_Mutation_p.A342V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	342	Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGCTGCAGCGGCTGCAGCC	0.657			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(1024-1026)gCg>gTg		paired box 7							15.0	19.0	18.0					1																	19029660		2065	4048	6113	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19029660C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1025C>T	1.37:g.19029660C>T	ENSP00000364524:p.Ala342Val					PAX7_ENST00000375375.3_Missense_Mutation_p.A342V|PAX7_ENST00000400661.3_Missense_Mutation_p.A340V	p.A342V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	7	1108	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	342			Poly-Ala.		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1025C>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	8.887	0.953106	0.18431	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95171	-3.63;-3.62;-3.63	5.2	5.2	0.72013	.	0.172614	0.49305	D	0.000144	D	0.89389	0.6701	L	0.29908	0.895	0.36054	D	0.840964	B;P;P	0.47106	0.327;0.89;0.688	B;B;B	0.36845	0.025;0.234;0.088	D	0.90677	0.4602	10	0.25106	T	0.35	.	17.6525	0.88169	0.0:1.0:0.0:0.0	.	342;340;342	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	342;342;340	ENSP00000364524:A342V;ENSP00000403389:A342V;ENSP00000383502:A340V	ENSP00000364524:A342V	A	+	2	0	PAX7	18902247	0.983000	0.35010	0.560000	0.28344	0.167000	0.22549	3.289000	0.51747	2.583000	0.87209	0.511000	0.50034	GCG		0.657	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		9	13	0	0	0	1	0	9	13				
CUL7	9820	broad.mit.edu	37	6	43010902	43010902	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43010902G>A	ENST00000265348.3	-	18	3457	c.3372C>T	c.(3370-3372)agC>agT	p.S1124S	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Silent_p.S1208S			Q14999	CUL7_HUMAN	cullin 7	1124					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCAGTCGTGGCTTCTGTTTC	0.617																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3622-3624)agC>agT		cullin 7							40.0	40.0	40.0					6																	43010902		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43010902G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3372C>T	6.37:g.43010902G>A						CUL7_ENST00000265348.3_Silent_p.S1124S	p.S1208S	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		18	3710	-			1124					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.3624C>T	CCDS4881.1																																																																																				0.617	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		13	16	0	0	0	1	0	13	16				
UBXN4	23190	broad.mit.edu	37	2	136513157	136513157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136513157C>T	ENST00000272638.9	+	5	715	c.404C>T	c.(403-405)tCt>tTt	p.S135F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	135					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCTACTCCATCTGCGTCATTT	0.383																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(403-405)tCt>tTt		UBX domain protein 4							94.0	90.0	91.0					2																	136513157		1856	4111	5967	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136513157C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.404C>T	2.37:g.136513157C>T	ENSP00000272638:p.Ser135Phe					UBXN4_ENST00000490163.1_3'UTR	p.S135F	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			5	715	+			135					A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.404C>T	CCDS42761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.85|13.85	2.360289|2.360289	0.41801|0.41801	.|.	.|.	ENSG00000144224|ENSG00000144224	ENST00000272638|ENST00000430594	T|.	0.49432|.	0.78|.	5.51|5.51	3.6|3.6	0.41247|0.41247	.|.	0.490157|.	0.20554|.	N|.	0.090041|.	T|T	0.50171|0.50171	0.1600|0.1600	L|L	0.46157|0.46157	1.445|1.445	0.36395|0.36395	D|D	0.862777|0.862777	B|.	0.31054|.	0.306|.	B|.	0.20384|.	0.029|.	T|T	0.55879|0.55879	-0.8071|-0.8071	10|6	0.59425|0.37606	D|T	0.04|0.19	.|.	6.8029|6.8029	0.23762|0.23762	0.0:0.6622:0.1608:0.177|0.0:0.6622:0.1608:0.177	.|.	135|.	Q92575|.	UBXN4_HUMAN|.	F|I	135|117	ENSP00000272638:S135F|.	ENSP00000272638:S135F|ENSP00000400407:T117I	S|T	+|+	2|2	0|0	UBXN4|UBXN4	136229627|136229627	0.004000|0.004000	0.15560|0.15560	0.994000|0.994000	0.49952|0.49952	0.953000|0.953000	0.61014|0.61014	0.533000|0.533000	0.23082|0.23082	1.332000|1.332000	0.45431|0.45431	0.557000|0.557000	0.71058|0.71058	TCT|ACT		0.383	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		20	22	0	0	0	1	0	20	22				
C20orf195	79025	broad.mit.edu	37	20	62187487	62187487	+	Silent	SNP	G	G	A	rs370445267		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187487G>A	ENST00000370098.3	+	2	563	c.471G>A	c.(469-471)gcG>gcA	p.A157A	C20orf195_ENST00000370097.1_Silent_p.A157A	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	157						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGACTGGGCGCTGGTGGAGC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15722	0.0		0.0	False		,,,				2504	0.001					ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(469-471)gcG>gcA		chromosome 20 open reading frame 195		G		0,4404		0,0,2202	28.0	31.0	30.0		471	-0.3	0.3	20		30	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	C20orf195	NM_024059.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		157/319	62187487	1,12991	2202	4294	6496	SO:0001819	synonymous_variant	79025							g.chr20:62187487G>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.471G>A	20.37:g.62187487G>A						C20orf195_ENST00000370097.1_Silent_p.A157A	p.A157A	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	563	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		157						Silent	SNP	ENST00000370098.3	37	c.471G>A	CCDS13526.1																																																																																				0.687	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		9	11	0	0	0	1	0	9	11				
MTMR1	8776	broad.mit.edu	37	X	149905195	149905195	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905195C>T	ENST00000370390.3	+	10	1342	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	MTMR1_ENST00000544228.1_Silent_p.I395I|MTMR1_ENST00000451863.2_Silent_p.I395I|MTMR1_ENST00000541925.1_Silent_p.I301I|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000445323.2_Silent_p.I403I	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	395	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTCGATCGATGAGGCGC	0.448																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1207-1209)atC>atT		myotubularin related protein 1							136.0	109.0	118.0					X																	149905195		2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149905195C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1185C>T	X.37:g.149905195C>T						MTMR1_ENST00000541925.1_Silent_p.I301I|MTMR1_ENST00000451863.2_Silent_p.I395I|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Silent_p.I395I|MTMR1_ENST00000370390.3_Silent_p.I395I	p.I403I			Q13613	MTMR1_HUMAN			11	1330	+	Acute lymphoblastic leukemia(192;6.56e-05)		395			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1209C>T	CCDS14695.1																																																																																				0.448	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		27	45	0	0	0	1	0	27	45				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442927	81442927	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81442927G>A	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							TCCCAGAGGCGCTCCTAGCAG	0.632																																						ENST00000600376.1																			0																																																			0							g.chr10:81442927G>A																													10.37:g.81442927G>A						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.632	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	8	0	0	0	1	0	3	8				
VIPR1	7433	broad.mit.edu	37	3	42577643	42577643	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42577643A>G	ENST00000325123.4	+	13	1357	c.1244A>G	c.(1243-1245)aAc>aGc	p.N415S	VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000438259.2_Missense_Mutation_p.N205S|VIPR1_ENST00000543411.1_Missense_Mutation_p.N367S|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.N374S	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	415					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGGGCTGGAACCCCAAATAC	0.701																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(1120-1122)aAc>aGc		vasoactive intestinal peptide receptor 1							17.0	20.0	19.0					3																	42577643		2190	4293	6483	SO:0001583	missense	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42577643A>G	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1244A>G	3.37:g.42577643A>G	ENSP00000327246:p.Asn415Ser					VIPR1_ENST00000438259.2_Missense_Mutation_p.N205S|VIPR1_ENST00000543411.1_Missense_Mutation_p.N367S|VIPR1_ENST00000325123.4_Missense_Mutation_p.N415S	p.N374S	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	14	1745	+			415					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	c.1121A>G	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822199	0.32237	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.01	-5.68	0.02436	.	0.311546	0.32231	N	0.006399	T	0.30198	0.0757	N	0.04959	-0.14	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.04650	-1.0936	10	0.56958	D	0.05	.	6.0215	0.19632	0.4198:0.3065:0.2738:0.0	.	388;205;367;415	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	S	374;367;205;415	ENSP00000394950:N374S;ENSP00000445701:N367S;ENSP00000415371:N205S;ENSP00000327246:N415S	ENSP00000327246:N415S	N	+	2	0	VIPR1	42552647	0.001000	0.12720	0.000000	0.03702	0.599000	0.36880	1.050000	0.30404	-1.397000	0.02068	-0.441000	0.05720	AAC		0.701	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		3	6	0	0	0	1	0	3	6				
MARS	4141	broad.mit.edu	37	12	57905572	57905572	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57905572G>A	ENST00000262027.5	+	12	1594	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000447721.2_3'UTR|RNU6-594P_ENST00000517056.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.R253Q	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	487					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCTTGGCTTCGGGATGGCCTC	0.512																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1459-1461)cGg>cAg		methionyl-tRNA synthetase	L-Methionine(DB00134)						99.0	82.0	88.0					12																	57905572		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57905572G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1460G>A	12.37:g.57905572G>A	ENSP00000262027:p.Arg487Gln					MARS_ENST00000315473.5_Missense_Mutation_p.R253Q|MARS_ENST00000447721.2_3'UTR	p.R487Q	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		12	1594	+			487					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1460G>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966900	0.92855	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.44083	1.46;0.93	5.19	5.19	0.71726	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.63428	1.95	0.80722	D	1	P;P;P	0.52577	0.812;0.954;0.954	B;P;P	0.48552	0.158;0.581;0.581	T	0.54563	-0.8275	10	0.54805	T	0.06	-17.1801	17.8698	0.88808	0.0:0.0:1.0:0.0	.	253;360;487	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	Q	487;253	ENSP00000262027:R487Q;ENSP00000314653:R253Q	ENSP00000262027:R487Q	R	+	2	0	MARS	56191839	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.202000	0.95026	2.596000	0.87737	0.491000	0.48974	CGG		0.512	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		14	20	0	0	0	1	0	14	20				
GPR128	84873	broad.mit.edu	37	3	100368606	100368606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100368606C>A	ENST00000273352.3	+	11	1602	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	GPR128_ENST00000475887.1_Missense_Mutation_p.S150Y	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	445					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTGCACTGTCTGTTACTGGT	0.348																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1333-1335)tCt>tAt		G protein-coupled receptor 128							141.0	133.0	135.0					3																	100368606		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100368606C>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1334C>A	3.37:g.100368606C>A	ENSP00000273352:p.Ser445Tyr					GPR128_ENST00000475887.1_Missense_Mutation_p.S150Y	p.S445Y	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			11	1602	+			445					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1334C>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789316	0.49997	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.73681	-0.77;-0.77	5.64	5.64	0.86602	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000004	D	0.90964	0.7159	H	0.96916	3.905	0.48341	D	0.999636	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93564	0.6898	10	0.87932	D	0	.	16.4349	0.83872	0.0:1.0:0.0:0.0	.	150;445	E9PHI0;Q96K78	.;GP128_HUMAN	Y	445;150	ENSP00000273352:S445Y;ENSP00000419788:S150Y	ENSP00000273352:S445Y	S	+	2	0	GPR128	101851296	1.000000	0.71417	0.715000	0.30552	0.136000	0.21042	4.940000	0.63533	2.658000	0.90341	0.655000	0.94253	TCT		0.348	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			26	47	1	0	1.75199e-13	1	2.22232e-13	26	47				
TMEM117	84216	broad.mit.edu	37	12	44781981	44781981	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44781981A>G	ENST00000266534.3	+	8	1198	c.1071A>G	c.(1069-1071)ctA>ctG	p.L357L	TMEM117_ENST00000536799.1_Silent_p.L253L|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	357						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAACCAAGCTATCCTGGGAAT	0.413																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1069-1071)ctA>ctG		transmembrane protein 117							98.0	93.0	95.0					12																	44781981		2203	4299	6502	SO:0001819	synonymous_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44781981A>G	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1071A>G	12.37:g.44781981A>G						TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.L253L|TMEM117_ENST00000546978.1_3'UTR	p.L357L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1198	+	Lung SC(27;0.192)		357						Silent	SNP	ENST00000266534.3	37	c.1071A>G	CCDS8745.1																																																																																				0.413	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		5	61	0	0	0	1	0	5	61				
AMY2B	280	broad.mit.edu	37	1	104115752	104115752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:104115752G>T	ENST00000361355.4	+	5	999	c.383G>T	c.(382-384)aGt>aTt	p.S128I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	128					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGAACAAGCAGTACCTGTGGA	0.403																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(382-384)aGt>aTt		amylase, alpha 2B (pancreatic)							319.0	327.0	324.0					1																	104115752		2202	4294	6496	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115752G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.383G>T	1.37:g.104115752G>T	ENSP00000354610:p.Ser128Ile					AMY2B_ENST00000491397.1_3'UTR	p.S128I	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	999	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	128					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.383G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456583	0.63401	.	.	ENSG00000240038	ENST00000361355	D	0.98381	-4.9	4.58	4.58	0.56647	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.204988	0.51477	D	0.000098	D	0.98027	0.9350	L	0.57536	1.79	0.43230	D	0.995121	D	0.56968	0.978	D	0.63957	0.92	D	0.99100	1.0843	10	0.87932	D	0	.	13.3696	0.60705	0.0:0.2877:0.7123:0.0	.	128	P19961	AMY2B_HUMAN	I	128	ENSP00000354610:S128I	ENSP00000354610:S128I	S	+	2	0	AMY2B	103917275	0.997000	0.39634	0.970000	0.41538	0.814000	0.46013	3.679000	0.54634	2.104000	0.64026	0.644000	0.83932	AGT		0.403	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		146	487	1	0	8.96501e-55	1	1.21306e-54	146	487				
SFSWAP	6433	broad.mit.edu	37	12	132212924	132212924	+	Silent	SNP	C	C	T	rs542020329	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132212924C>T	ENST00000261674.4	+	7	1173	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N	SFSWAP_ENST00000541286.1_Silent_p.N344N	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	344					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CCCCACACAACGCAGACGGTG	0.572													c|||	2	0.000399361	0.0015	0.0	5008	,	,		19600	0.0		0.0	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1030-1032)aaC>aaT		splicing factor, suppressor of white-apricot homolog (Drosophila)							162.0	126.0	138.0					12																	132212924		2203	4300	6503	SO:0001819	synonymous_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132212924C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1032C>T	12.37:g.132212924C>T						SFSWAP_ENST00000541286.1_Silent_p.N344N	p.N344N	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			7	1173	+			344					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	c.1032C>T	CCDS9273.1																																																																																				0.572	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		25	46	0	0	0	1	0	25	46				
ST14	6768	broad.mit.edu	37	11	130078384	130078384	+	Missense_Mutation	SNP	C	C	T	rs574114776		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130078384C>T	ENST00000278742.5	+	17	2492	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	692	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGCAGGAGCGCAGGCTCAA	0.622																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(2074-2076)Cgc>Tgc		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						67.0	65.0	66.0					11																	130078384		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130078384C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2074C>T	11.37:g.130078384C>T	ENSP00000278742:p.Arg692Cys						p.R692C	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	17	2492	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	692			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.2074C>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871187	0.51695	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.93712	-3.27	5.4	4.4	0.53042	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.535810	0.04886	N	0.448676	D	0.97111	0.9056	M	0.79011	2.435	0.49915	D	0.999837	D	0.89917	1.0	D	0.77004	0.989	D	0.91795	0.5447	10	0.56958	D	0.05	.	16.4559	0.84012	0.1729:0.8271:0.0:0.0	.	692	Q9Y5Y6	ST14_HUMAN	C	692;594	ENSP00000278742:R692C	ENSP00000278742:R692C	R	+	1	0	ST14	129583594	0.985000	0.35326	0.955000	0.39395	0.304000	0.27724	2.649000	0.46656	2.533000	0.85409	0.313000	0.20887	CGC		0.622	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			3	21	0	0	0	1	0	3	21				
CD83	9308	broad.mit.edu	37	6	14131769	14131769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14131769G>T	ENST00000379153.3	+	3	343	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	58	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGGTGGTGAAGAGAGGATGGA	0.502																																						ENST00000379153.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12						c.(172-174)Gag>Tag		CD83 molecule							76.0	72.0	73.0					6																	14131769		2203	4300	6503	SO:0001587	stop_gained	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14131769G>T	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.172G>T	6.37:g.14131769G>T	ENSP00000368450:p.Glu58*						p.E58*	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN			3	343	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	58			Ig-like V-type.		Q5THX9	Nonsense_Mutation	SNP	ENST00000379153.3	37	c.172G>T	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385722	0.82792	.	.	ENSG00000112149	ENST00000379153	.	.	.	5.39	0.0343	0.14183	.	0.596334	0.17670	N	0.166010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.2392	10.3167	0.43740	0.0797:0.5462:0.3742:0.0	.	.	.	.	X	58	.	ENSP00000368450:E58X	E	+	1	0	CD83	14239748	0.291000	0.24352	0.001000	0.08648	0.098000	0.18820	0.223000	0.17719	-0.206000	0.10203	0.655000	0.94253	GAG		0.502	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			4	45	1	0	0.00909568	1	0.00947522	4	45				
DNAH8	1769	broad.mit.edu	37	6	38998068	38998068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38998068G>A	ENST00000359357.3	+	91	13627	c.13373G>A	c.(13372-13374)cGa>cAa	p.R4458Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4422Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4458					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACCCAGGCGAACTGATTTG	0.488																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(13372-13374)cGa>cAa		dynein, axonemal, heavy chain 8							132.0	123.0	126.0					6																	38998068		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38998068G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13373G>A	6.37:g.38998068G>A	ENSP00000352312:p.Arg4458Gln					DNAH8_ENST00000441566.1_Missense_Mutation_p.R4422Q	p.R4458Q							91	13627	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.13373G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.639797	0.96693	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.32988	1.43;1.43;1.43	5.15	5.15	0.70609	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.72898	0.3518	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86651	0.1898	10	0.87932	D	0	.	18.6417	0.91398	0.0:0.0:1.0:0.0	.	4458	Q96JB1	DYH8_HUMAN	Q	4663;4458;4422	ENSP00000333363:R4663Q;ENSP00000352312:R4458Q;ENSP00000402294:R4422Q	ENSP00000333363:R4663Q	R	+	2	0	DNAH8	39106046	1.000000	0.71417	0.898000	0.35279	0.970000	0.65996	9.622000	0.98378	2.397000	0.81536	0.650000	0.86243	CGA		0.488	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		29	26	0	0	0	1	0	29	26				
MECOM	2122	broad.mit.edu	37	3	168849257	168849257	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168849257G>A	ENST00000464456.1	-	3	1209	c.9C>T	c.(7-9)agC>agT	p.S3S	MECOM_ENST00000468789.1_Silent_p.S3S|MECOM_ENST00000433243.2_Silent_p.S3S|MECOM_ENST00000264674.3_Silent_p.S67S|MECOM_ENST00000460814.1_Silent_p.S3S|MECOM_ENST00000392736.3_Silent_p.S3S|MECOM_ENST00000494292.1_Silent_p.S191S|MECOM_ENST00000472280.1_Silent_p.S3S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(7-9)agC>agT		MDS1 and EVI1 complex locus							156.0	102.0	120.0					3																	168849257		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168849257G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.9C>T	3.37:g.168849257G>A						MECOM_ENST00000472280.1_Silent_p.S3S|MECOM_ENST00000468789.1_Silent_p.S3S|MECOM_ENST00000460814.1_Silent_p.S3S|MECOM_ENST00000433243.2_Silent_p.S3S|MECOM_ENST00000392736.3_Silent_p.S3S|MECOM_ENST00000264674.3_Silent_p.S67S|MECOM_ENST00000494292.1_Silent_p.S191S	p.S3S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			3	1209	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.9C>T	CCDS54669.1																																																																																				0.458	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		16	25	0	0	0	1	0	16	25				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	58	0	0	0	1	0	9	58				
PCDHB16	57717	broad.mit.edu	37	5	140562669	140562669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562669C>T	ENST00000361016.2	+	1	1690	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCATTTCCGGGTTCTAAT	0.448																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(535-537)Cgg>Tgg									45.0	48.0	47.0					5																	140562669		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562669C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.535C>T	5.37:g.140562669C>T	ENSP00000354293:p.Arg179Trp						p.R179W	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1690	+			179			Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.535C>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795997	0.50208	.	.	ENSG00000196963	ENST00000361016	T	0.20598	2.06	4.69	0.829	0.18847	Cadherin (4);Cadherin-like (1);	1.494410	0.04967	N	0.463091	T	0.35508	0.0934	M	0.84433	2.695	0.09310	N	1	P	0.47191	0.891	P	0.48488	0.579	T	0.19549	-1.0302	10	0.72032	D	0.01	.	3.0352	0.06119	0.2003:0.4988:0.103:0.1979	.	179	Q9NRJ7	PCDBG_HUMAN	W	179	ENSP00000354293:R179W	ENSP00000354293:R179W	R	+	1	2	PCDHB16	140542853	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.712000	0.01885	0.085000	0.17107	-0.789000	0.03336	CGG		0.448	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		21	20	0	0	0	1	0	21	20				
FRMD7	90167	broad.mit.edu	37	X	131228096	131228096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131228096G>A	ENST00000298542.4	-	5	531	c.356C>T	c.(355-357)gCg>gTg	p.A119V	FRMD7_ENST00000464296.1_Missense_Mutation_p.A104V|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TACCATCAACGCTGTACAGTT	0.443																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(355-357)gCg>gTg		FERM domain containing 7							202.0	167.0	179.0					X																	131228096		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131228096G>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.356C>T	X.37:g.131228096G>A	ENSP00000298542:p.Ala119Val					FRMD7_ENST00000464296.1_Missense_Mutation_p.A104V|FRMD7_ENST00000370879.1_5'UTR	p.A119V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			5	531	-	Acute lymphoblastic leukemia(192;0.000127)		119			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.356C>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892436	0.91889	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.77750	-1.12;-1.12	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	L	0.46670	1.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84086	0.0387	10	0.41790	T	0.15	.	16.8125	0.85724	0.0:0.0:1.0:0.0	.	104;119	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	V	119;104	ENSP00000298542:A119V;ENSP00000417996:A104V	ENSP00000298542:A119V	A	-	2	0	FRMD7	131055777	1.000000	0.71417	0.930000	0.37139	0.947000	0.59692	9.359000	0.97115	2.262000	0.75019	0.529000	0.55759	GCG		0.443	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		76	120	0	0	0	1	0	76	120				
SFMBT1	51460	broad.mit.edu	37	3	52941704	52941704	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52941704G>T	ENST00000394752.3	-	18	2334	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	SFMBT1_ENST00000296295.6_Missense_Mutation_p.P651H|SFMBT1_ENST00000394750.1_Missense_Mutation_p.P651H|SFMBT1_ENST00000358080.2_Missense_Mutation_p.P651H	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	651					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATGCCCACCAGGTGGCCTCCC	0.388																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1951-1953)cCt>cAt		Scm-like with four mbt domains 1							137.0	141.0	140.0					3																	52941704		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52941704G>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1952C>A	3.37:g.52941704G>T	ENSP00000378235:p.Pro651His					SFMBT1_ENST00000296295.6_Missense_Mutation_p.P651H|SFMBT1_ENST00000394750.1_Missense_Mutation_p.P651H|SFMBT1_ENST00000358080.2_Missense_Mutation_p.P651H	p.P651H	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	18	2334	-			651					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.1952C>A	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309801	0.81247	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.987	T	0.41251	-0.9519	10	0.87932	D	0	.	19.509	0.95133	0.0:0.0:1.0:0.0	.	651;651	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	H	651	ENSP00000378235:P651H;ENSP00000350789:P651H;ENSP00000296295:P651H;ENSP00000378233:P651H	ENSP00000296295:P651H	P	-	2	0	SFMBT1	52916744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.682000	0.91365	0.655000	0.94253	CCT		0.388	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		9	61	1	0	1.12685e-05	1	1.27857e-05	9	61				
SLC4A11	83959	broad.mit.edu	37	20	3212183	3212183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3212183C>T	ENST00000380056.3	-	7	836	c.789G>A	c.(787-789)aaG>aaA	p.K263K	SLC4A11_ENST00000539553.2_Silent_p.K247K|SLC4A11_ENST00000380059.3_Silent_p.K290K|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	263					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATCGCAGTCTTAGTGCTTT	0.602																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(868-870)aaG>aaA		solute carrier family 4, sodium borate transporter, member 11							62.0	59.0	60.0					20																	3212183		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3212183C>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.789G>A	20.37:g.3212183C>T						SLC4A11_ENST00000539553.1_Silent_p.K247K|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.K263K	p.K290K	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			8	971	-			263					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.870G>A	CCDS13052.1																																																																																				0.602	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			16	40	0	0	0	1	0	16	40				
DOT1L	84444	broad.mit.edu	37	19	2216348	2216348	+	Silent	SNP	G	G	A	rs370804234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216348G>A	ENST00000398665.3	+	20	2028	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	664					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGTGCCGCCTGACGACG	0.677																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1990-1992)ccG>ccA		DOT1-like histone H3K79 methyltransferase		G		1,4039		0,1,2019	30.0	34.0	33.0		1992	-10.3	0.0	19		33	0,8346		0,0,4173	no	coding-synonymous	DOT1L	NM_032482.2		0,1,6192	AA,AG,GG		0.0,0.0248,0.0081		664/1538	2216348	1,12385	2020	4173	6193	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216348G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1992G>A	19.37:g.2216348G>A							p.P664P	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2028	+		Hepatocellular(1079;0.137)	664					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1992G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	0.540	-0.854250	0.02630	2.48E-4	0.0	ENSG00000104885	ENST00000440640	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.31482	0.0798	.	.	.	0.48040	D	0.999571	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-23.2795	1.2536	0.01987	0.3459:0.0864:0.2176:0.3501	.	.	.	.	H	451	.	.	R	+	2	0	DOT1L	2167348	0.000000	0.05858	0.019000	0.16419	0.033000	0.12548	-4.010000	0.00314	-2.004000	0.00961	-1.923000	0.00514	CGC		0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		5	44	0	0	0	1	0	5	44				
PAMR1	25891	broad.mit.edu	37	11	35454022	35454022	+	Missense_Mutation	SNP	C	C	T	rs143951734	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35454022C>T	ENST00000378880.2	-	11	2490	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	PAMR1_ENST00000278360.3_Missense_Mutation_p.R699H|PAMR1_ENST00000378878.3_Missense_Mutation_p.R571H|PAMR1_ENST00000532848.1_Missense_Mutation_p.R642H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	682	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGATGCCAGCGTGGCTCAGG	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22465	0.0		0.0	False		,,,				2504	0.0					ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(2044-2046)cGc>cAc		peptidase domain containing associated with muscle regeneration 1		C	HIS/ARG,HIS/ARG	3,4401	6.2+/-15.9	0,3,2199	82.0	77.0	79.0		2045,2096	4.4	0.2	11	dbSNP_134	79	0,8596		0,0,4298	yes	missense,missense	PAMR1	NM_001001991.1,NM_015430.2	29,29	0,3,6497	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging	682/721,699/738	35454022	3,12997	2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454022C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2045G>A	11.37:g.35454022C>T	ENSP00000368158:p.Arg682His					PAMR1_ENST00000532848.1_Missense_Mutation_p.R642H|PAMR1_ENST00000378878.3_Missense_Mutation_p.R571H|PAMR1_ENST00000278360.3_Missense_Mutation_p.R699H	p.R682H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			11	2490	-			682			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.2045G>A	CCDS31460.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.597	1.127627	0.20959	6.81E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31	5.34	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.239569	0.41001	D	0.000971	D	0.90521	0.7030	L	0.53617	1.68	0.09310	N	0.999998	B;B;B	0.15719	0.014;0.004;0.003	B;B;B	0.10450	0.005;0.002;0.002	D	0.84234	0.0468	10	0.87932	D	0	.	10.7808	0.46377	0.0:0.7972:0.1312:0.0715	.	571;682;699	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	H	699;682;571;642;659	ENSP00000278360:R699H;ENSP00000368158:R682H;ENSP00000368156:R571H;ENSP00000433868:R642H;ENSP00000432591:R659H	ENSP00000278360:R699H	R	-	2	0	PAMR1	35410598	0.811000	0.29063	0.210000	0.23637	0.383000	0.30230	1.024000	0.30077	1.381000	0.46364	0.561000	0.74099	CGC		0.567	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		29	36	0	0	0	1	0	29	36				
SYT5	6861	broad.mit.edu	37	19	55686268	55686268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55686268C>T	ENST00000354308.3	-	7	1177	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SYT5_ENST00000590851.1_Missense_Mutation_p.D266N|SYT5_ENST00000537500.1_Missense_Mutation_p.D270N|SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	270	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTCCTACGTCCATCTTCTTC	0.592																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(808-810)Gac>Aac		synaptotagmin V							130.0	123.0	125.0					19																	55686268		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686268C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.808G>A	19.37:g.55686268C>T	ENSP00000346265:p.Asp270Asn					SYT5_ENST00000590851.1_Missense_Mutation_p.D266N|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.D270N	p.D270N	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1177	-			270			C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.808G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646681	0.87958	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.77489	-1.1;-1.1	3.98	2.94	0.34122	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	M	0.84683	2.71	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.79784	0.984;0.907;0.993	D	0.88270	0.2929	10	0.87932	D	0	.	10.5749	0.45221	0.0:0.8978:0.0:0.1022	.	266;269;270	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	N	270;270;266	ENSP00000442896:D270N;ENSP00000346265:D270N	ENSP00000346265:D270N	D	-	1	0	SYT5	60378080	1.000000	0.71417	0.994000	0.49952	0.694000	0.40290	5.824000	0.69279	2.175000	0.68902	0.305000	0.20034	GAC		0.592	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		6	41	0	0	0	1	0	6	41				
MSRB2	22921	broad.mit.edu	37	10	23408358	23408358	+	Missense_Mutation	SNP	G	G	A	rs368959044		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23408358G>A	ENST00000376510.3	+	4	525	c.422G>A	c.(421-423)cGc>cAc	p.R141H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	141					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GGATCAGCTCGCACAGAGGTT	0.512																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	ENST00000376510.3																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9						c.(421-423)cGc>cAc		methionine sulfoxide reductase B2	L-Methionine(DB00134)	G	HIS/ARG	1,3947		0,1,1973	96.0	97.0	97.0		422	4.2	1.0	10		97	0,8328		0,0,4164	no	missense	MSRB2	NM_012228.3	29	0,1,6137	AA,AG,GG		0.0,0.0253,0.0081	probably-damaging	141/183	23408358	1,12275	1974	4164	6138	SO:0001583	missense	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23408358G>A	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.422G>A	10.37:g.23408358G>A	ENSP00000365693:p.Arg141His					MSRB2_ENST00000468633.1_3'UTR	p.R141H	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN			4	525	+			141					Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	c.422G>A	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847160	0.71603	2.53E-4	0.0	ENSG00000148450	ENST00000376510	D	0.85773	-2.03	5.05	4.15	0.48705	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.051231	0.85682	D	0.000000	D	0.93556	0.7943	M	0.93854	3.465	0.42188	D	0.991719	D	0.89917	1.0	D	0.71414	0.973	D	0.94808	0.7976	10	0.87932	D	0	-4.5236	12.887	0.58049	0.0812:0.0:0.9188:0.0	.	141	Q9Y3D2	MSRB2_HUMAN	H	141	ENSP00000365693:R141H	ENSP00000365693:R141H	R	+	2	0	MSRB2	23448364	1.000000	0.71417	0.966000	0.40874	0.486000	0.33341	4.850000	0.62889	1.259000	0.44117	0.655000	0.94253	CGC		0.512	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		22	29	0	0	0	1	0	22	29				
ARHGAP20	57569	broad.mit.edu	37	11	110450366	110450366	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110450366A>G	ENST00000260283.4	-	16	3588	c.3304T>C	c.(3304-3306)Tcc>Ccc	p.S1102P	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1076P|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S645P|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1079P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1076P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1102					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCACAGGGGACAGTCCTTCA	0.532																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(3304-3306)Tcc>Ccc		Rho GTPase activating protein 20							74.0	75.0	75.0					11																	110450366		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450366A>G	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3304T>C	11.37:g.110450366A>G	ENSP00000260283:p.Ser1102Pro					ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1076P|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1079P|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S645P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1076P	p.S1102P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3588	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1102					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.3304T>C	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657834	0.29425	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.09630	2.96;2.96;2.99;2.96;2.96;2.96;2.96	5.74	1.33	0.21861	.	1.412800	0.04190	N	0.328141	T	0.07638	0.0192	N	0.22421	0.69	0.09310	N	1	B;B;B	0.29716	0.018;0.072;0.255	B;B;B	0.28784	0.031;0.043;0.094	T	0.36040	-0.9764	10	0.25751	T	0.34	.	4.3309	0.11062	0.275:0.478:0.0:0.2469	.	1076;1102;1079	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	P	1102;1076;645;1079;1066;1076;1066	ENSP00000260283:S1102P;ENSP00000349660:S1076P;ENSP00000437905:S645P;ENSP00000432076:S1079P;ENSP00000436319:S1066P;ENSP00000436522:S1076P;ENSP00000431399:S1066P	ENSP00000260283:S1102P	S	-	1	0	ARHGAP20	109955576	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.141000	0.16076	0.383000	0.24910	-1.044000	0.02363	TCC		0.532	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		27	51	0	0	0	1	0	27	51				
ARHGAP10	79658	broad.mit.edu	37	4	148886181	148886181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148886181G>A	ENST00000336498.3	+	17	1696	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G135D	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1249					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGAAAGCGGCAGCCCAGAA	0.308																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1456-1458)gGc>gAc		Rho GTPase activating protein 10							59.0	58.0	59.0					4																	148886181		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148886181G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1457G>A	4.37:g.148886181G>A	ENSP00000336923:p.Gly486Asp					ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G135D	p.G486D	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	17	1696	+	all_hematologic(180;0.151)	Renal(17;0.0166)	486			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1457G>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	7.340	0.620783	0.14193	.	.	ENSG00000071205	ENST00000336498;ENST00000414545	T;T	0.17213	2.29;2.29	5.55	5.55	0.83447	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.116339	0.64402	D	0.000008	T	0.10937	0.0267	N	0.00750	-1.22	0.53688	D	0.999975	P;P;B	0.44946	0.846;0.659;0.274	P;B;B	0.51777	0.679;0.259;0.18	T	0.51458	-0.8703	10	0.13470	T	0.59	.	19.5156	0.95162	0.0:0.0:1.0:0.0	.	67;135;486	Q86T21;E7EUW5;A1A4S6	.;.;RHG10_HUMAN	D	486;135	ENSP00000336923:G486D;ENSP00000406624:G135D	ENSP00000336923:G486D	G	+	2	0	ARHGAP10	149105631	1.000000	0.71417	0.995000	0.50966	0.326000	0.28443	4.612000	0.61169	2.611000	0.88343	0.561000	0.74099	GGC		0.308	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		6	43	0	0	0	1	0	6	43				
PCDHB5	26167	broad.mit.edu	37	5	140515416	140515416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140515416C>T	ENST00000231134.5	+	1	617	c.400C>T	c.(400-402)Cca>Tca	p.P134S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	134					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGTTCCCAGAGAAGGA	0.443																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(400-402)Cca>Tca									72.0	80.0	78.0					5																	140515416		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515416C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.400C>T	5.37:g.140515416C>T	ENSP00000231134:p.Pro134Ser						p.P134S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	617	+			134					Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.400C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.696088	0.00731	.	.	ENSG00000113209	ENST00000231134	T	0.19250	2.16	5.18	2.38	0.29361	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.18873	N	0.999989	B	0.15473	0.013	B	0.18871	0.023	T	0.32295	-0.9912	9	0.20519	T	0.43	.	9.2068	0.37293	0.0:0.6406:0.0:0.3594	.	134	Q9Y5E4	PCDB5_HUMAN	S	134	ENSP00000231134:P134S	ENSP00000231134:P134S	P	+	1	0	PCDHB5	140495600	0.000000	0.05858	0.782000	0.31804	0.498000	0.33706	-1.697000	0.01910	0.692000	0.31613	0.555000	0.69702	CCA		0.443	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		22	44	0	0	0	1	0	22	44				
UBA7	7318	broad.mit.edu	37	3	49850778	49850778	+	Silent	SNP	G	G	A	rs144077688	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49850778G>A	ENST00000333486.3	-	3	422	c.264C>T	c.(262-264)gcC>gcT	p.A88A	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	88	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGAGGCCTCGGCTCTGCTCC	0.587																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(262-264)gcC>gcT		ubiquitin-like modifier activating enzyme 7		G		0,4406		0,0,2203	64.0	66.0	65.0		264	-3.6	1.0	3	dbSNP_134	65	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	UBA7	NM_003335.2		0,8,6495	AA,AG,GG		0.093,0.0,0.0615		88/1013	49850778	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49850778G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.264C>T	3.37:g.49850778G>A						UBA7_ENST00000494212.1_5'UTR	p.A88A	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	422	-			88			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.264C>T	CCDS2805.1																																																																																				0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		4	46	0	0	0	1	0	4	46				
NOMO1	23420	broad.mit.edu	37	16	14962439	14962439	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14962439T>C	ENST00000287667.7	+	16	2012	c.1841T>C	c.(1840-1842)gTg>gCg	p.V614A		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	614						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGTGAGAATGTGGGGATTTAT	0.403																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(1840-1842)gTg>gCg		NODAL modulator 1							165.0	175.0	171.0					16																	14962439		2195	4300	6495	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14962439T>C	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1841T>C	16.37:g.14962439T>C	ENSP00000287667:p.Val614Ala						p.V614A	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			16	2012	+			614					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.1841T>C	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	18.74	3.688076	0.68271	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04015	3.73	2.93	2.93	0.34026	.	0.131175	0.50627	D	0.000108	T	0.11879	0.0289	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.28396	-1.0045	10	0.07813	T	0.8	-22.754	9.3114	0.37908	0.0:0.0:0.0:1.0	.	614	Q15155	NOMO1_HUMAN	A	614;614;447	ENSP00000287667:V614A	ENSP00000287667:V614A	V	+	2	0	NOMO1	14869940	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.465000	0.80898	1.335000	0.45486	0.327000	0.21459	GTG		0.403	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			11	143	0	0	0	1	0	11	143				
IL1F10	84639	broad.mit.edu	37	2	113831905	113831905	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113831905G>A	ENST00000393197.2	+	2	453		c.e2-1		IL1F10_ENST00000341010.2_Splice_Site|IL1F10_ENST00000337569.3_Intron	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)							extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						TACTGTTTCAGAATTAAATAT	0.517																																						ENST00000393197.2																			0				endometrium(1)|lung(6)|ovary(1)	8						c.e2-1		interleukin 1 family, member 10 (theta)							98.0	88.0	91.0					2																	113831905		2203	4300	6503	SO:0001630	splice_region_variant	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113831905G>A	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.33-1G>A	2.37:g.113831905G>A						IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Splice_Site		NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN			2	453	+								Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Splice_Site	SNP	ENST00000393197.2	37		CCDS2112.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759048	0.31137	.	.	ENSG00000136697	ENST00000341010;ENST00000393197	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0	0.64427	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL1F10	113548376	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	4.200000	0.58433	2.578000	0.87016	0.655000	0.94253	.		0.517	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161	Intron	7	20	0	0	0	1	0	7	20				
COBL	23242	broad.mit.edu	37	7	51096641	51096641	+	Nonsense_Mutation	SNP	G	G	A	rs372919855		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51096641G>A	ENST00000265136.7	-	10	2317	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	COBL_ENST00000395542.2_Nonsense_Mutation_p.R800*	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	718					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			1	Substitution - Nonsense(1)	p.R718*(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2398-2400)Cga>Tga		cordon-bleu WH2 repeat protein		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	99.0	106.0		2152	2.0	0.4	7		106	0,8600		0,0,4300	no	stop-gained	COBL	NM_015198.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		718/1262	51096641	1,13005	2203	4300	6503	SO:0001587	stop_gained	23242							g.chr7:51096641G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2152C>T	7.37:g.51096641G>A	ENSP00000265136:p.Arg718*					COBL_ENST00000265136.7_Nonsense_Mutation_p.R718*	p.R800*			O75128	COBL_HUMAN			12	2582	-	Glioma(55;0.08)		718					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Nonsense_Mutation	SNP	ENST00000265136.7	37	c.2398C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878423	0.91740	2.27E-4	0.0	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	.	.	.	5.83	2.05	0.26809	.	0.256704	0.28062	N	0.016752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0117	0.58735	0.0:0.0:0.4063:0.5937	.	.	.	.	X	718;610;603;800	.	ENSP00000265136:R718X	R	-	1	2	COBL	51064135	0.731000	0.28111	0.371000	0.25978	0.392000	0.30506	1.452000	0.35156	0.102000	0.17638	-0.262000	0.10625	CGA		0.507	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		26	43	0	0	0	1	0	26	43				
PRMT9	90826	broad.mit.edu	37	4	148591866	148591866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148591866C>T	ENST00000322396.6	-	5	1014	c.772G>A	c.(772-774)Gat>Aat	p.D258N	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.D145N	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		258	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAACCTGCATCGACAGTTTCT	0.328																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(772-774)Gat>Aat		protein arginine methyltransferase 10 (putative)							126.0	128.0	127.0					4																	148591866		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148591866C>T																												ENST00000322396.6:c.772G>A	4.37:g.148591866C>T	ENSP00000314396:p.Asp258Asn					PRMT10_ENST00000541232.1_Missense_Mutation_p.D145N|TMEM184C_ENST00000508208.1_Intron	p.D258N	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			5	1014	-			258					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.772G>A	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230118	0.95207	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.22539	1.95;1.95	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58132	-0.7690	10	0.46703	T	0.11	-0.6417	19.2432	0.93891	0.0:1.0:0.0:0.0	.	258	Q6P2P2	ANM10_HUMAN	N	258;145	ENSP00000314396:D258N;ENSP00000439508:D145N	ENSP00000314396:D258N	D	-	1	0	PRMT10	148811316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.279000	0.78599	2.609000	0.88269	0.655000	0.94253	GAT		0.328	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			32	56	0	0	0	1	0	32	56				
RPL13A	23521	broad.mit.edu	37	19	49993743	49993743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49993743G>A	ENST00000391857.4	+	4	242	c.166G>A	c.(166-168)Gct>Act	p.A56T	SNORD35A_ENST00000363389.1_RNA|CTD-3148I10.15_ENST00000595815.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD34_ENST00000365633.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	56					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GAAGTACCTGGCTTTCCTCCG	0.622																																						ENST00000391857.4																			0				cervix(1)|endometrium(1)	2						c.(166-168)Gct>Act		ribosomal protein L13a							32.0	39.0	37.0					19																	49993743		2203	4300	6503	SO:0001583	missense	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49993743G>A	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.166G>A	19.37:g.49993743G>A	ENSP00000375730:p.Ala56Thr					RPL13A_ENST00000477613.2_3'UTR	p.A56T	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	4	242	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	56					A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	c.166G>A	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004402	0.74932	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.34	5.34	0.76211	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000002	T	0.55162	0.1903	L	0.45285	1.41	0.80722	D	1	B;B	0.15719	0.011;0.014	B;B	0.21917	0.037;0.029	T	0.49934	-0.8886	9	0.16896	T	0.51	.	16.5412	0.84385	0.0:0.0:1.0:0.0	.	56;56	Q5QTS3;P40429	.;RL13A_HUMAN	T	56	.	ENSP00000375730:A56T	A	+	1	0	RPL13A	54685555	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.181000	0.77682	2.496000	0.84212	0.655000	0.94253	GCT		0.622	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1			20	21	0	0	0	1	0	20	21				
BRAT1	221927	broad.mit.edu	37	7	2578059	2578059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2578059C>T	ENST00000340611.4	-	14	2366	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	704					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCACAAAAGGCGAAGTCAAAG	0.617																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(2110-2112)Gcc>Acc		BRCA1-associated ATM activator 1							50.0	62.0	57.0					7																	2578059		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2578059C>T	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2110G>A	7.37:g.2578059C>T	ENSP00000339637:p.Ala704Thr					BRAT1_ENST00000473879.1_5'UTR	p.A704T	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			14	2366	-			704					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.2110G>A	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415905	0.62511	.	.	ENSG00000106009	ENST00000340611	T	0.32023	1.47	5.27	3.1	0.35709	.	0.344140	0.30051	N	0.010521	T	0.21062	0.0507	M	0.65975	2.015	0.09310	N	1	P	0.39862	0.692	B	0.24701	0.055	T	0.38457	-0.9660	10	0.56958	D	0.05	-19.782	2.6849	0.05105	0.1362:0.4714:0.2238:0.1686	.	704	Q6PJG6	BRAT1_HUMAN	T	704	ENSP00000339637:A704T	ENSP00000339637:A704T	A	-	1	0	BRAT1	2544585	0.992000	0.36948	0.237000	0.24090	0.868000	0.49771	1.942000	0.40243	1.220000	0.43490	0.561000	0.74099	GCC		0.617	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		13	61	0	0	0	1	0	13	61				
C10orf2	56652	broad.mit.edu	37	10	102748108	102748108	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102748108C>A	ENST00000311916.2	+	1	326	c.141C>A	c.(139-141)gcC>gcA	p.A47A	MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000473656.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000370228.1_Silent_p.A47A|MRPL43_ENST00000477279.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	47					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTCTCCAAGCCTTGGATATGC	0.607																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(139-141)gcC>gcA		chromosome 10 open reading frame 2							87.0	90.0	89.0					10																	102748108		2203	4300	6503	SO:0001819	synonymous_variant	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748108C>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.141C>A	10.37:g.102748108C>A						C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Silent_p.A47A	p.A47A	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	326	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	47					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	ENST00000311916.2	37	c.141C>A	CCDS7506.1																																																																																				0.607	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		11	71	1	0	6.40141e-05	1	7.11719e-05	11	71				
LRIF1	55791	broad.mit.edu	37	1	111494608	111494608	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111494608A>C	ENST00000369763.4	-	2	1288	c.898T>G	c.(898-900)Ttt>Gtt	p.F300V	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GATGGCGTAAAAGGCTGTAGA	0.343																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(898-900)Ttt>Gtt		ligand dependent nuclear receptor interacting factor 1							107.0	101.0	103.0					1																	111494608		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494608A>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.898T>G	1.37:g.111494608A>C	ENSP00000358778:p.Phe300Val					LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	p.F300V	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1288	-			300					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.898T>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	A	2.654	-0.281318	0.05642	.	.	ENSG00000121931	ENST00000369763	T	0.21191	2.02	5.19	2.84	0.33178	.	0.885835	0.09875	N	0.744380	T	0.02848	0.0085	N	0.08118	0	0.53005	D	0.999969	B	0.02656	0.0	B	0.01281	0.0	T	0.43766	-0.9371	10	0.15499	T	0.54	9.8719	5.1915	0.15212	0.7133:0.191:0.0956:0.0	.	300	Q5T3J3	LRIF1_HUMAN	V	300	ENSP00000358778:F300V	ENSP00000358778:F300V	F	-	1	0	LRIF1	111296131	0.029000	0.19370	0.527000	0.27925	0.728000	0.41692	0.734000	0.26101	0.387000	0.25024	0.482000	0.46254	TTT		0.343	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		53	52	0	0	0	1	0	53	52				
HPS5	11234	broad.mit.edu	37	11	18313457	18313457	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313457C>A	ENST00000349215.3	-	16	2249	c.1972G>T	c.(1972-1974)Ggt>Tgt	p.G658C	HPS5_ENST00000396253.3_Missense_Mutation_p.G544C|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.G544C	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	658					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGAAACACCTGAAAAGTCC	0.353									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1630-1632)Ggt>Tgt		Hermansky-Pudlak syndrome 5							82.0	89.0	87.0					11																	18313457		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313457C>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1972G>T	11.37:g.18313457C>A	ENSP00000265967:p.Gly658Cys					HPS5_ENST00000438420.2_Missense_Mutation_p.G544C|HPS5_ENST00000349215.3_Missense_Mutation_p.G658C|HPS5_ENST00000352460.3_5'UTR	p.G544C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2092	-			658					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1630G>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.310973	0.40895	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.77750	-1.12;-1.12;-1.12	5.63	1.22	0.21188	.	0.613522	0.18673	N	0.134383	T	0.70141	0.3190	L	0.44542	1.39	0.09310	N	1	B	0.30870	0.298	B	0.38194	0.267	T	0.63363	-0.6654	10	0.56958	D	0.05	.	7.1542	0.25628	0.0:0.5926:0.1252:0.2822	.	658	Q9UPZ3	HPS5_HUMAN	C	544;544;658	ENSP00000379552:G544C;ENSP00000399590:G544C;ENSP00000265967:G658C	ENSP00000265967:G658C	G	-	1	0	HPS5	18270033	0.000000	0.05858	0.066000	0.19879	0.849000	0.48306	-0.088000	0.11198	0.741000	0.32674	0.655000	0.94253	GGT		0.353	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		8	95	1	0	3.09899e-07	1	3.63227e-07	8	95				
SLC4A11	83959	broad.mit.edu	37	20	3209033	3209033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209033C>A	ENST00000380056.3	-	18	2525	c.2478G>T	c.(2476-2478)caG>caT	p.Q826H	SLC4A11_ENST00000539553.2_Missense_Mutation_p.Q810H|SLC4A11_ENST00000380059.3_Missense_Mutation_p.Q853H|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	826	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGATCTTCCTCTGGGGCACCC	0.642																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2557-2559)caG>caT		solute carrier family 4, sodium borate transporter, member 11							120.0	112.0	115.0					20																	3209033		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209033C>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2478G>T	20.37:g.3209033C>A	ENSP00000369396:p.Gln826His					SLC4A11_ENST00000539553.1_Missense_Mutation_p.Q810H|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.Q826H	p.Q853H	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			19	2660	-			826			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.2559G>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395164	0.83011	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78707	-1.2;-1.2;-1.2	5.37	4.41	0.53225	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.995	D	0.90065	0.4159	10	0.66056	D	0.02	.	13.1494	0.59480	0.0:0.9211:0.0:0.0789	.	810;853;826	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	H	853;826;810	ENSP00000369399:Q853H;ENSP00000369396:Q826H;ENSP00000441370:Q810H	ENSP00000369396:Q826H	Q	-	3	2	SLC4A11	3157033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.933000	0.63484	1.235000	0.43724	0.455000	0.32223	CAG		0.642	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			6	93	1	0	0.0215528	1	0.0221649	6	93				
ADPGK	83440	broad.mit.edu	37	15	73052808	73052808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73052808C>T	ENST00000311669.8	-	4	676	c.583G>A	c.(583-585)Gtt>Att	p.V195I	ADPGK_ENST00000567733.1_5'UTR	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	195	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TCTGGTGGAACAAAGACATTG	0.473																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(583-585)Gtt>Att		ADP-dependent glucokinase							161.0	156.0	158.0					15																	73052808		1982	4163	6145	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73052808C>T	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.583G>A	15.37:g.73052808C>T	ENSP00000312250:p.Val195Ile					ADPGK_ENST00000567733.1_5'UTR	p.V195I	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			4	676	-			195			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.583G>A	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930985	0.73327	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000331065	T	0.50813	0.73	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	L	0.45352	1.415	0.80722	D	1	D;D;P	0.63046	0.992;0.992;0.812	P;P;P	0.59487	0.858;0.858;0.481	T	0.53229	-0.8468	10	0.34782	T	0.22	-21.8047	19.5018	0.95098	0.0:1.0:0.0:0.0	.	137;195;195	B4DG35;Q9BRR6;Q9BRR6-2	.;ADPGK_HUMAN;.	I	195;114;73	ENSP00000312250:V195I	ENSP00000312250:V195I	V	-	1	0	ADPGK	70839861	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.395000	0.79876	2.616000	0.88540	0.655000	0.94253	GTT		0.473	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		42	74	0	0	0	1	0	42	74				
ADAMTS16	170690	broad.mit.edu	37	5	5237190	5237190	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5237190T>C	ENST00000274181.7	+	14	2270	c.2132T>C	c.(2131-2133)gTt>gCt	p.V711A	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	711	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGTAATGTTTGTATAGAT	0.393																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2131-2133)gTt>gCt		ADAM metallopeptidase with thrombospondin type 1 motif, 16							134.0	124.0	127.0					5																	5237190		1909	4126	6035	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237190T>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2132T>C	5.37:g.5237190T>C	ENSP00000274181:p.Val711Ala					ADAMTS16_ENST00000513709.1_Intron	p.V711A	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			14	2270	+			711			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2132T>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716784	0.89205	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.68903	-0.36	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	D	0.85483	0.5707	M	0.92970	3.365	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.72982	0.836;0.979	D	0.89024	0.3437	10	0.87932	D	0	.	14.9999	0.71464	0.0:0.0:0.0:1.0	.	711;711	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	A	711	ENSP00000274181:V711A	ENSP00000274181:V711A	V	+	2	0	ADAMTS16	5290190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.310000	0.78947	2.186000	0.69663	0.533000	0.62120	GTT		0.393	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		34	58	0	0	0	1	0	34	58				
DLK1	8788	broad.mit.edu	37	14	101200826	101200826	+	Missense_Mutation	SNP	G	G	A	rs138651182		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101200826G>A	ENST00000341267.4	+	5	987	c.745G>A	c.(745-747)Gcg>Acg	p.A249T	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAAGAAGCGCGCGCTGAGCCC	0.682																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(745-747)Gcg>Acg		delta-like 1 homolog (Drosophila)		G	THR/ALA	4,4402		0,4,2199	35.0	40.0	38.0		745	-0.3	0.0	14	dbSNP_134	38	0,8600		0,0,4300	no	missense	DLK1	NM_003836.5	58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	249/384	101200826	4,13002	2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200826G>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.745G>A	14.37:g.101200826G>A	ENSP00000340292:p.Ala249Thr					DLK1_ENST00000331224.6_Intron	p.A249T	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	987	+		Melanoma(154;0.155)	249					P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.745G>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	8.225	0.803272	0.16397	9.08E-4	0.0	ENSG00000185559	ENST00000341267	T	0.66995	-0.24	4.16	-0.295	0.12828	.	0.891322	0.09748	N	0.761040	T	0.38188	0.1031	N	0.19112	0.55	0.09310	N	1	P	0.36438	0.553	B	0.23018	0.043	T	0.18241	-1.0343	9	.	.	.	.	2.4145	0.04432	0.1123:0.3489:0.3599:0.1789	.	249	P80370	DLK1_HUMAN	T	249	ENSP00000340292:A249T	.	A	+	1	0	DLK1	100270579	0.014000	0.17966	0.047000	0.18901	0.483000	0.33249	0.414000	0.21164	0.314000	0.23086	0.491000	0.48974	GCG		0.682	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			6	55	0	0	0	1	0	6	55				
IRF1	3659	broad.mit.edu	37	5	131819745	131819745	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131819745C>A	ENST00000245414.4	-	10	1134	c.876G>T	c.(874-876)caG>caT	p.Q292H	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Missense_Mutation_p.Q292H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	292					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TGAAGACACGCTGTAGACTCA	0.572																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(874-876)caG>caT		interferon regulatory factor 1							120.0	109.0	112.0					5																	131819745		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131819745C>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.876G>T	5.37:g.131819745C>A	ENSP00000245414:p.Gln292His					IRF1_ENST00000405885.2_Missense_Mutation_p.Q292H	p.Q292H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	10	1134	-		all_cancers(142;0.026)|Breast(839;0.198)	292					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.876G>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	0.343	-0.949166	0.02304	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.98835	-5.17;-5.17	4.56	-9.13	0.00704	.	2.306050	0.01093	N	0.005235	D	0.91666	0.7366	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.90824	0.4711	10	0.15499	T	0.54	-0.0251	3.3357	0.07100	0.153:0.1902:0.1137:0.5431	.	292	P10914	IRF1_HUMAN	H	292	ENSP00000245414:Q292H;ENSP00000384406:Q292H	ENSP00000245414:Q292H	Q	-	3	2	IRF1	131847644	0.000000	0.05858	0.001000	0.08648	0.736000	0.42039	-2.756000	0.00789	-2.624000	0.00438	-1.291000	0.01355	CAG		0.572	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		8	19	1	0	1.58986e-06	1	1.84011e-06	8	19				
CEP63	80254	broad.mit.edu	37	3	134277156	134277156	+	Missense_Mutation	SNP	G	G	T	rs555008684		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134277156G>T	ENST00000337090.3	+	13	1813	c.1640G>T	c.(1639-1641)aGc>aTc	p.S547I	CEP63_ENST00000606977.1_Missense_Mutation_p.S547I|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S547I|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	547					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAACACACAGCAGAACAACT	0.299																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1639-1641)aGc>aTc		centrosomal protein 63kDa																																				SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134277156G>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1640G>T	3.37:g.134277156G>T	ENSP00000336524:p.Ser547Ile					CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S547I|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.S547I	p.S547I			Q96MT8	CEP63_HUMAN			13	1813	+			547					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1640G>T	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.81|13.81	2.349627|2.349627	0.41599|0.41599	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000504929|ENST00000337090;ENST00000513612	.|T;T	.|0.20463	.|2.07;2.07	4.87|4.87	4.0|4.0	0.46444|0.46444	.|.	.|0.749959	.|0.13473	.|N	.|0.385303	T|T	0.20659|0.20659	0.0497|0.0497	L|L	0.56769|0.56769	1.78|1.78	0.20403|0.20403	N|N	0.999902|0.999902	.|P	.|0.36837	.|0.571	.|B	.|0.35607	.|0.206	T|T	0.12451|0.12451	-1.0547|-1.0547	5|10	.|0.40728	.|T	.|0.16	0.9074|0.9074	7.7299|7.7299	0.28781|0.28781	0.1876:0.0:0.8124:0.0|0.1876:0.0:0.8124:0.0	.|.	.|547	.|Q96MT8	.|CEP63_HUMAN	S|I	236|547	.|ENSP00000336524:S547I;ENSP00000426129:S547I	.|ENSP00000336524:S547I	A|S	+|+	1|2	0|0	CEP63|CEP63	135759846|135759846	0.029000|0.029000	0.19370|0.19370	0.975000|0.975000	0.42487|0.42487	0.969000|0.969000	0.65631|0.65631	0.401000|0.401000	0.20948|0.20948	1.418000|1.418000	0.47098|0.47098	0.467000|0.467000	0.42956|0.42956	GCA|AGC		0.299	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		4	57	1	0	1.23904e-05	1	1.39987e-05	4	57				
NUDT11	55190	broad.mit.edu	37	X	51239031	51239031	+	Missense_Mutation	SNP	C	C	T	rs199633559		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51239031C>T	ENST00000375992.3	-	1	417	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	89	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.|Substrate binding. {ECO:0000250}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TCTGTGCTTGCGATCCTGGTT	0.582										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(265-267)cGc>cAc		nudix (nucleoside diphosphate linked moiety X)-type motif 11							111.0	101.0	105.0					X																	51239031		2203	4300	6503	SO:0001583	missense	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239031C>T	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.266G>A	X.37:g.51239031C>T	ENSP00000365160:p.Arg89His	HNSCC(48;0.14)					p.R89H	NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			1	417	-	Ovarian(276;0.236)		89			Nudix hydrolase.|Substrate binding (By similarity).		Q9NVN0	Missense_Mutation	SNP	ENST00000375992.3	37	c.266G>A	CCDS43952.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781610	0.49891	.	.	ENSG00000196368	ENST00000375992	T	0.08008	3.14	3.25	-1.18	0.09617	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.125962	0.52532	D	0.000064	T	0.06781	0.0173	N	0.25094	0.71	0.34265	D	0.680349	D	0.55385	0.971	P	0.52856	0.711	T	0.30268	-0.9984	9	0.30854	T	0.27	-1.5755	2.9485	0.05854	0.1587:0.4197:0.3106:0.1109	.	89	Q96G61	NUD11_HUMAN	H	89	ENSP00000365160:R89H	ENSP00000365160:R89H	R	-	2	0	NUDT11	51255771	1.000000	0.71417	0.459000	0.27081	0.722000	0.41435	4.249000	0.58766	-0.160000	0.11002	-0.239000	0.12128	CGC		0.582	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			31	36	0	0	0	1	0	31	36				
OR14A16	284532	broad.mit.edu	37	1	247978154	247978154	+	Missense_Mutation	SNP	G	G	A	rs111974834		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247978154G>A	ENST00000357627.1	-	1	877	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACCTTTATGGCCTTGTTTCT	0.378																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(877-879)gCc>gTc		olfactory receptor, family 14, subfamily A, member 16							62.0	60.0	61.0					1																	247978154		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978154G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.878C>T	1.37:g.247978154G>A	ENSP00000350248:p.Ala293Val						p.A293V	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	877	-			293					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.878C>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415422	0.25552	.	.	ENSG00000196772	ENST00000357627	T	0.37584	1.19	3.69	-0.159	0.13379	.	0.733784	0.11459	U	0.561991	T	0.28134	0.0694	L	0.33485	1.01	0.20563	N	0.999887	B	0.15719	0.014	B	0.17098	0.017	T	0.34477	-0.9827	10	0.72032	D	0.01	.	11.6708	0.51399	0.0:0.0:0.3125:0.6875	.	293	Q8NHC5	O14AG_HUMAN	V	293	ENSP00000350248:A293V	ENSP00000350248:A293V	A	-	2	0	OR14A16	246044777	0.017000	0.18338	0.114000	0.21550	0.406000	0.30931	1.119000	0.31258	0.148000	0.19059	0.596000	0.82720	GCC		0.378	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		22	42	0	0	0	1	0	22	42				
KIF3B	9371	broad.mit.edu	37	20	30904663	30904663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30904663G>A	ENST00000375712.3	+	5	1901	c.1734G>A	c.(1732-1734)agG>agA	p.R578R	KIF3B_ENST00000418717.2_Silent_p.R204R	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	578					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTCACCAGGGAGCTGAAAC	0.517																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1732-1734)agG>agA		kinesin family member 3B							77.0	73.0	74.0					20																	30904663		2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30904663G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1734G>A	20.37:g.30904663G>A						KIF3B_ENST00000418717.2_Silent_p.R204R	p.R578R	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		5	1901	+			578					B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.1734G>A	CCDS13200.1																																																																																				0.517	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		10	24	0	0	0	1	0	10	24				
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T	rs533642927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(595-597)Gtc>Atc		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							103.0	103.0	103.0					19																	17122306		1942	4144	6086	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122306C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.595G>A	19.37:g.17122306C>T	ENSP00000402505:p.Val199Ile					CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I	p.V199I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			5	626	-			152					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.595G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145137	0.21288	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.73469	-0.75;-0.75	3.16	2.1	0.27182	Alpha-2-macroglobulin, N-terminal (1);	0.103590	0.38778	N	0.001578	T	0.78078	0.4227	L	0.58583	1.82	0.18873	N	0.999984	D	0.71674	0.998	P	0.62014	0.897	T	0.67007	-0.5779	10	0.28530	T	0.3	.	9.1286	0.36830	0.0:0.8881:0.0:0.1119	.	152	Q8IZJ3	CPMD8_HUMAN	I	199;152	ENSP00000291440:V199I;ENSP00000373577:V152I	ENSP00000291440:V199I	V	-	1	0	CPAMD8	16983306	0.998000	0.40836	0.748000	0.31131	0.243000	0.25628	1.603000	0.36794	0.336000	0.23639	-0.140000	0.14226	GTC		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		52	76	0	0	0	1	0	52	76				
PARP4	143	broad.mit.edu	37	13	25051995	25051995	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25051995C>T	ENST00000381989.3	-	14	1738	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	545	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATTCATCATCCTAGAGCAAA	0.308																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e14-1		poly (ADP-ribose) polymerase family, member 4							25.0	29.0	27.0					13																	25051995		2182	4257	6439	SO:0001630	splice_region_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25051995C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1633-1G>A	13.37:g.25051995C>T							p.D545_splice	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	14	1738	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	545			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Splice_Site	SNP	ENST00000381989.3	37	c.1632_splice	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427322	0.62733	.	.	ENSG00000102699	ENST00000381989	T	0.13307	2.6	3.84	2.97	0.34412	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	U	0.000000	T	0.26340	0.0643	L	0.45137	1.4	0.39851	D	0.973242	D	0.89917	1.0	D	0.91635	0.999	T	0.01617	-1.1311	10	0.59425	D	0.04	-17.2869	10.3186	0.43751	0.1985:0.8015:0.0:0.0	.	545	Q9UKK3	PARP4_HUMAN	N	545	ENSP00000371419:D545N	ENSP00000371419:D545N	D	-	1	0	PARP4	23949995	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	6.177000	0.71961	0.808000	0.34231	0.549000	0.68633	GAT		0.308	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	Missense_Mutation	16	21	0	0	0	1	0	16	21				
PEAK1	79834	broad.mit.edu	37	15	77450859	77450859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77450859G>A	ENST00000560626.2	-	5	3792	c.3317C>T	c.(3316-3318)aCa>aTa	p.T1106I	PEAK1_ENST00000312493.4_Missense_Mutation_p.T1106I			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1106					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GTTGCTGTATGTTGCACTACA	0.403																																						ENST00000560626.2																			0											c.(3316-3318)aCa>aTa		pseudopodium-enriched atypical kinase 1							162.0	147.0	152.0					15																	77450859		1916	4121	6037	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77450859G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3317C>T	15.37:g.77450859G>A	ENSP00000452796:p.Thr1106Ile					PEAK1_ENST00000312493.4_Missense_Mutation_p.T1106I	p.T1106I			Q9H792	PEAK1_HUMAN			5	3792	-			1106					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3317C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719109	0.48622	.	.	ENSG00000173517	ENST00000312493	T	0.72942	-0.7	5.5	4.59	0.56863	.	0.285058	0.33023	N	0.005380	T	0.59418	0.2192	L	0.29908	0.895	0.43267	D	0.995215	B	0.23735	0.09	B	0.20184	0.028	T	0.59490	-0.7445	10	0.87932	D	0	-9.9548	12.6302	0.56653	0.0762:0.0:0.9238:0.0	.	1106	Q9H792	PEAK1_HUMAN	I	1106	ENSP00000309230:T1106I	ENSP00000309230:T1106I	T	-	2	0	AC087465.1	75237914	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.677000	0.61634	1.323000	0.45263	0.563000	0.77884	ACA		0.403	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			24	47	0	0	0	1	0	24	47				
SGK2	10110	broad.mit.edu	37	20	42213499	42213499	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42213499C>A	ENST00000341458.4	+	12	1346	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	SGK2_ENST00000373077.1_Missense_Mutation_p.P315H|SGK2_ENST00000426287.1_Missense_Mutation_p.P342H|SGK2_ENST00000373092.3_Missense_Mutation_p.P316H|SGK2_ENST00000423407.3_Missense_Mutation_p.P316H|SGK2_ENST00000373100.1_Missense_Mutation_p.P316H	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	376	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAGGACCTGCTGACTTG	0.542																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(946-948)cCt>cAt		serum/glucocorticoid regulated kinase 2							161.0	164.0	163.0					20																	42213499		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42213499C>A	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1127C>A	20.37:g.42213499C>A	ENSP00000340608:p.Pro376His					SGK2_ENST00000341458.4_Missense_Mutation_p.P376H|SGK2_ENST00000373092.3_Missense_Mutation_p.P316H|SGK2_ENST00000373077.1_Missense_Mutation_p.P315H|SGK2_ENST00000426287.1_Missense_Mutation_p.P342H|SGK2_ENST00000423407.3_Missense_Mutation_p.P316H	p.P316H			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	1407	+		Myeloproliferative disorder(115;0.00452)	376			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.947C>A	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020399	0.75275	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28	5.64	5.64	0.86602	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	M	0.78049	2.395	0.80722	D	1	B;B	0.32203	0.36;0.196	B;B	0.40101	0.319;0.162	T	0.68496	-0.5393	10	0.56958	D	0.05	.	18.8504	0.92225	0.0:1.0:0.0:0.0	.	376;316	Q9HBY8;Q9HBY8-2	SGK2_HUMAN;.	H	316;316;315;316;376;342	ENSP00000362192:P316H;ENSP00000362184:P316H;ENSP00000362168:P315H;ENSP00000392795:P316H;ENSP00000340608:P376H;ENSP00000412214:P342H	ENSP00000340608:P376H	P	+	2	0	SGK2	41646913	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.596000	0.82721	2.824000	0.97209	0.655000	0.94253	CCT		0.542	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			42	123	1	0	9.39024e-22	1	1.23681e-21	42	123				
PRDM10	56980	broad.mit.edu	37	11	129772399	129772399	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129772399A>G	ENST00000360871.3	-	21	3511	c.3280T>C	c.(3280-3282)Tta>Cta	p.L1094L	PRDM10_ENST00000528746.1_Silent_p.L1055L|PRDM10_ENST00000304538.6_Silent_p.L961L|PRDM10_ENST00000358825.5_Silent_p.L1098L|PRDM10_ENST00000526082.1_Silent_p.L1012L|PRDM10_ENST00000423662.2_Silent_p.L999L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1085					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTTTCTGATAACACATAATGA	0.488																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3292-3294)Tta>Cta		PR domain containing 10							93.0	86.0	89.0					11																	129772399		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129772399A>G	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3280T>C	11.37:g.129772399A>G						PRDM10_ENST00000304538.6_Silent_p.L961L|PRDM10_ENST00000360871.3_Silent_p.L1094L|PRDM10_ENST00000526082.1_Silent_p.L1012L|PRDM10_ENST00000423662.2_Silent_p.L999L|PRDM10_ENST00000528746.1_Silent_p.L1055L	p.L1098L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	22	3523	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1085					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.3292T>C	CCDS8484.1																																																																																				0.488	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		13	31	0	0	0	1	0	13	31				
CCDC91	55297	broad.mit.edu	37	12	28605515	28605515	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605515A>G	ENST00000545336.1	+	14	1448	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	CCDC91_ENST00000306172.5_Silent_p.E313E|CCDC91_ENST00000381259.1_Silent_p.E343E|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Silent_p.E307E|CCDC91_ENST00000539107.1_Silent_p.E307E			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	343	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAAGACAGAACATGCAAAAG	0.299																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(1027-1029)gaA>gaG		coiled-coil domain containing 91							61.0	68.0	66.0					12																	28605515		2203	4294	6497	SO:0001819	synonymous_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28605515A>G	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1029A>G	12.37:g.28605515A>G						CCDC91_ENST00000381256.1_Silent_p.E307E|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Silent_p.E313E|CCDC91_ENST00000381259.1_Silent_p.E343E|CCDC91_ENST00000539107.1_Silent_p.E307E	p.E343E			Q7Z6B0	CCD91_HUMAN			14	1448	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		343			Homodimerization.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	ENST00000545336.1	37	c.1029A>G	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	9.402	1.078228	0.20227	.	.	ENSG00000123106	ENST00000542801	.	.	.	5.43	-2.74	0.05932	.	.	.	.	.	T	0.56124	0.1964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55302	-0.8162	4	.	.	.	-17.9453	11.4537	0.50169	0.486:0.0:0.514:0.0	.	.	.	.	S	14	.	.	N	+	2	0	CCDC91	28496782	0.981000	0.34729	0.993000	0.49108	0.978000	0.69477	0.001000	0.13038	-0.304000	0.08843	-0.361000	0.07541	AAC		0.299	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		16	40	0	0	0	1	0	16	40				
TOP3A	7156	broad.mit.edu	37	17	18186034	18186034	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18186034G>T	ENST00000321105.5	-	16	2213	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	TOP3A_ENST00000542570.1_Missense_Mutation_p.L572I|TOP3A_ENST00000540524.1_Missense_Mutation_p.L197I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	667					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGTCTTAAGGACCATGTCC	0.577																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1999-2001)Ctt>Att		topoisomerase (DNA) III alpha							239.0	189.0	206.0					17																	18186034		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18186034G>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1999C>A	17.37:g.18186034G>T	ENSP00000321636:p.Leu667Ile					TOP3A_ENST00000540524.1_Missense_Mutation_p.L197I|TOP3A_ENST00000542570.1_Missense_Mutation_p.L572I	p.L667I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			16	2213	-			667					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1999C>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599020	0.46318	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.14022	2.99;2.54;2.98	5.84	5.84	0.93424	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, zn finger (1);	0.124213	0.56097	D	0.000026	T	0.18130	0.0435	N	0.17564	0.495	0.80722	D	1	P;P	0.40534	0.529;0.72	P;P	0.53102	0.609;0.718	T	0.02632	-1.1131	10	0.45353	T	0.12	-29.7016	14.3181	0.66465	0.0707:0.0:0.9293:0.0	.	572;667	B4DK80;Q13472	.;TOP3A_HUMAN	I	667;197;572	ENSP00000321636:L667I;ENSP00000446425:L197I;ENSP00000442336:L572I	ENSP00000321636:L667I	L	-	1	0	TOP3A	18126759	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.370000	0.59517	2.769000	0.95229	0.563000	0.77884	CTT		0.577	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			7	116	1	0	5.18039e-06	1	5.91835e-06	7	116				
SIGLEC1	6614	broad.mit.edu	37	20	3670648	3670648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3670648G>T	ENST00000344754.4	-	18	4854	c.4855C>A	c.(4855-4857)Ctg>Atg	p.L1619M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1619M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1619	Ig-like C2-type 16.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGAGCCCAGGACATTTGAG	0.602																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(4855-4857)Ctg>Atg		sialic acid binding Ig-like lectin 1, sialoadhesin							46.0	39.0	42.0					20																	3670648		2202	4300	6502	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3670648G>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4855C>A	20.37:g.3670648G>T	ENSP00000341141:p.Leu1619Met					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1619M	p.L1619M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			18	4854	-			1619			Ig-like C2-type 16.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.4855C>A	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984431|2.984431	0.53934|0.53934	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.13778|.	2.56;2.56|.	5.55|5.55	3.62|3.62	0.41486|0.41486	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.277746|.	0.19457|.	N|.	0.113787|.	T|T	0.65207|0.65207	0.2669|0.2669	M|M	0.90082|0.90082	3.085|3.085	0.28814|0.28814	N|N	0.898053|0.898053	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.62572|0.62572	-0.6826|-0.6826	10|5	0.42905|.	T|.	0.14|.	.|.	8.5698|8.5698	0.33563|0.33563	0.1768:0.0:0.8232:0.0|0.1768:0.0:0.8232:0.0	.|.	1619;1619|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	M|H	1619|432	ENSP00000341141:L1619M;ENSP00000202578:L1619M|.	ENSP00000202578:L1619M|.	L|P	-|-	1|2	2|0	SIGLEC1|SIGLEC1	3618648|3618648	0.903000|0.903000	0.30736|0.30736	0.687000|0.687000	0.30102|0.30102	0.579000|0.579000	0.36224|0.36224	1.226000|1.226000	0.32563|0.32563	0.714000|0.714000	0.32081|0.32081	0.561000|0.561000	0.74099|0.74099	CTG|CCT		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		13	16	1	0	3.45872e-05	1	3.88335e-05	13	16				
BIN3	55909	broad.mit.edu	37	8	22479052	22479052	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22479052G>T	ENST00000276416.6	-	9	713	c.645C>A	c.(643-645)atC>atA	p.I215I	BIN3_ENST00000519513.1_Silent_p.I161I|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Silent_p.I167I	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	215	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGTCTCCAAAGATCTTGTGCA	0.622																																						ENST00000276416.6																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9						c.(643-645)atC>atA		bridging integrator 3							83.0	93.0	89.0					8																	22479052		2109	4222	6331	SO:0001819	synonymous_variant	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22479052G>T		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.645C>A	8.37:g.22479052G>T						BIN3_ENST00000519513.1_Silent_p.I161I|BIN3_ENST00000399977.4_Silent_p.I167I|BIN3_ENST00000519335.1_5'UTR	p.I215I	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	9	713	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	215			BAR.		Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	c.645C>A	CCDS47825.1																																																																																				0.622	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			29	38	1	0	2.85442e-18	1	3.71821e-18	29	38				
PKHD1L1	93035	broad.mit.edu	37	8	110498895	110498895	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110498895C>A	ENST00000378402.5	+	59	9829	c.9725C>A	c.(9724-9726)cCt>cAt	p.P3242H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3242					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCATGTCCCTGGAACTGGT	0.423										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9724-9726)cCt>cAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							146.0	141.0	142.0					8																	110498895		1911	4148	6059	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110498895C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9725C>A	8.37:g.110498895C>A	ENSP00000367655:p.Pro3242His	HNSCC(38;0.096)					p.P3242H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		59	9829	+			3242					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9725C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190729	0.58017	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.82711	-1.64;-1.64	5.42	3.52	0.40303	Pectin lyase fold/virulence factor (1);	0.289309	0.33650	N	0.004700	T	0.81158	0.4764	L	0.58583	1.82	0.26274	N	0.978384	P	0.37997	0.614	B	0.42882	0.401	T	0.75326	-0.3357	10	0.66056	D	0.02	.	9.2266	0.37410	0.1447:0.7737:0.0:0.0816	.	3242	Q86WI1	PKHL1_HUMAN	H	3242;170	ENSP00000367655:P3242H;ENSP00000437376:P170H	ENSP00000367655:P3242H	P	+	2	0	PKHD1L1	110568071	0.077000	0.21312	0.631000	0.29282	0.688000	0.40055	2.349000	0.44054	1.422000	0.47177	0.563000	0.77884	CCT		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	135	1	0	0.0135373	1	0.0140872	11	135				
NOTCH2	4853	broad.mit.edu	37	1	120458048	120458048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120458048C>T	ENST00000256646.2	-	34	7516	c.7297G>A	c.(7297-7299)Gct>Act	p.A2433T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2433					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTCAGAAGCAGAGTGGGGT	0.597			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(7297-7299)Gct>Act		notch 2							104.0	100.0	102.0					1																	120458048		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458048C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7297G>A	1.37:g.120458048C>T	ENSP00000256646:p.Ala2433Thr						p.A2433T	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7516	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2433					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.7297G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186515	0.57909	.	.	ENSG00000134250	ENST00000256646	T	0.76316	-1.01	5.66	5.66	0.87406	Domain of unknown function DUF3454, notch (1);	0.000000	0.36167	U	0.002753	T	0.73583	0.3605	L	0.34521	1.04	0.37005	D	0.895475	D	0.57571	0.98	P	0.57846	0.828	T	0.69672	-0.5082	10	0.20519	T	0.43	.	18.7386	0.91765	0.0:1.0:0.0:0.0	.	2433	Q04721	NOTC2_HUMAN	T	2433	ENSP00000256646:A2433T	ENSP00000256646:A2433T	A	-	1	0	NOTCH2	120259571	0.953000	0.32496	1.000000	0.80357	0.992000	0.81027	0.781000	0.26774	2.671000	0.90904	0.655000	0.94253	GCT		0.597	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	87	0	0	0	1	0	10	87				
LYST	1130	broad.mit.edu	37	1	235922740	235922740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922740G>T	ENST00000389794.3	-	23	6587	c.6413C>A	c.(6412-6414)aCt>aAt	p.T2138N	LYST_ENST00000389793.2_Missense_Mutation_p.T2138N|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2138					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCAACATAAGTATCTGCAAT	0.418																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6412-6414)aCt>aAt		lysosomal trafficking regulator							129.0	125.0	126.0					1																	235922740		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922740G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6413C>A	1.37:g.235922740G>T	ENSP00000374444:p.Thr2138Asn					LYST_ENST00000389793.2_Missense_Mutation_p.T2138N|LYST_ENST00000536965.1_3'UTR	p.T2138N			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6587	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2138					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6413C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	1.460	-0.562594	0.03939	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.60548	0.18;0.18	5.04	-2.43	0.06522	.	2.047980	0.01778	N	0.031572	T	0.20007	0.0481	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	10	0.02654	T	1	.	1.1629	0.01809	0.202:0.3333:0.1706:0.2942	.	2138	Q99698	LYST_HUMAN	N	2138	ENSP00000374444:T2138N;ENSP00000374443:T2138N	ENSP00000374443:T2138N	T	-	2	0	LYST	233989363	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	0.038000	0.13862	-0.466000	0.06943	0.558000	0.71614	ACT		0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			54	66	1	0	4.1673e-28	1	5.5674e-28	54	66				
OTOGL	283310	broad.mit.edu	37	12	80623083	80623083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80623083G>A	ENST00000547103.1	+	7	515	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.R170Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	170	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCTTGTTATCGGTCAATCAGC	0.348																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(508-510)cGg>cAg		otogelin-like							216.0	197.0	203.0					12																	80623083		1843	4090	5933	SO:0001583	missense	283310							g.chr12:80623083G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.509G>A	12.37:g.80623083G>A	ENSP00000447211:p.Arg170Gln					OTOGL_ENST00000547103.1_Missense_Mutation_p.R170Q	p.R170Q	NM_173591.3	NP_775862.3					7	515	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.509G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.712859	0.96830	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.60672	0.17;0.17	5.78	5.78	0.91487	.	.	.	.	.	T	0.67258	0.2874	L	0.45422	1.42	0.58432	D	0.999998	.	.	.	.	.	.	T	0.65944	-0.6045	7	0.54805	T	0.06	.	20.0039	0.97428	0.0:0.0:1.0:0.0	.	.	.	.	Q	170	ENSP00000447211:R170Q;ENSP00000400895:R170Q	ENSP00000400895:R170Q	R	+	2	0	OTOGL	79147214	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.452000	0.97615	2.722000	0.93159	0.557000	0.71058	CGG		0.348	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		46	60	0	0	0	1	0	46	60				
TM4SF19	116211	broad.mit.edu	37	3	196050709	196050709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196050709G>T	ENST00000273695.3	-	5	734	c.609C>A	c.(607-609)ttC>ttA	p.F203L	TM4SF19_ENST00000446879.1_Missense_Mutation_p.S202Y|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.F203L|TM4SF19_ENST00000454715.1_Missense_Mutation_p.F177L|TM4SF19-AS1_ENST00000452051.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	203						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGAGGCTGCAGAAAAGGCCCA	0.537																																						ENST00000446879.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(604-606)tCt>tAt		transmembrane 4 L six family member 19							75.0	75.0	75.0					3																	196050709		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196050709G>T	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.609C>A	3.37:g.196050709G>T	ENSP00000273695:p.Phe203Leu					TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.F177L|TM4SF19_ENST00000273695.3_Missense_Mutation_p.F203L|TM4SF19-AS1_ENST00000452051.1_RNA	p.S202Y			Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	5	730	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		0					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.605C>A	CCDS3316.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.69|15.69|15.69	2.909434|2.909434|2.909434	0.52439|0.52439|0.52439	.|.|.	.|.|.	ENSG00000145107|ENSG00000145107|ENSG00000145107	ENST00000454715;ENST00000273695|ENST00000440822|ENST00000446879	T;T|.|T	0.17691|.|0.27557	2.26;2.26|.|1.66	5.31|5.31|5.31	3.47|3.47|3.47	0.39725|0.39725|0.39725	.|.|.	0.386726|.|.	0.25903|.|.	N|.|.	0.027543|.|.	T|T|T	0.24392|0.24392|0.24392	0.0591|0.0591|0.0591	N|N|N	0.11845|0.11845|0.11845	0.185|0.185|0.185	0.33780|0.33780|0.33780	D|D|D	0.624107|0.624107|0.624107	B;B|.|D	0.14805|.|0.54964	0.001;0.011|.|0.969	B;B|.|P	0.15484|.|0.51701	0.013;0.01|.|0.677	T|T|T	0.32561|0.32561|0.32561	-0.9902|-0.9902|-0.9902	10|5|9	0.02654|.|0.56958	T|.|D	1|.|0.05	.|.|.	7.8262|7.8262|7.8262	0.29315|0.29315|0.29315	0.0901:0.1614:0.7485:0.0|0.0901:0.1614:0.7485:0.0|0.0901:0.1614:0.7485:0.0	.|.|.	177;203|.|202	E9PH22;Q96DZ7|.|C9JCD5	.;T4S19_HUMAN|.|.	L|M|Y	177;203|70|202	ENSP00000387728:F177L;ENSP00000273695:F203L|.|ENSP00000395280:S202Y	ENSP00000273695:F203L|.|ENSP00000395280:S202Y	F|L|S	-|-|-	3|1|2	2|2|0	TM4SF19|TM4SF19|TM4SF19	197535106|197535106|197535106	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	1.078000|1.078000|1.078000	0.30754|0.30754|0.30754	1.208000|1.208000|1.208000	0.43306|0.43306|0.43306	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTG|TCT		0.537	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		19	40	1	0	4.35082e-09	1	5.25983e-09	19	40				
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209518C>A	ENST00000396193.1	-	3	780	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTGACATTCCCTGTGAGCCCA	0.517																																						ENST00000396193.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(187-189)Ggg>Tgg		phosphodiesterase 1C, calmodulin-dependent 70kDa							260.0	220.0	232.0					7																	32209518		876	1991	2867	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209518C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.187G>T	7.37:g.32209518C>A	ENSP00000379496:p.Gly63Trp						p.G63W	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	780	-			0					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396193.1	37	c.187G>T	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999190	0.74818	.	.	ENSG00000154678	ENST00000396193	T	0.75704	-0.96	5.61	5.61	0.85477	.	.	.	.	.	T	0.75354	0.3838	N	0.19112	0.55	0.80722	D	1	D	0.63046	0.992	P	0.58577	0.841	T	0.79140	-0.1926	9	0.87932	D	0	.	17.4006	0.87459	0.0:1.0:0.0:0.0	.	63	E9PE92	.	W	63	ENSP00000379496:G63W	ENSP00000379496:G63W	G	-	1	0	PDE1C	32176043	0.957000	0.32711	0.997000	0.53966	0.994000	0.84299	4.577000	0.60922	2.652000	0.90054	0.655000	0.94253	GGG		0.517	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			9	154	1	0	0.000673444	1	0.000724755	9	154				
NCOR1	9611	broad.mit.edu	37	17	15942850	15942850	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942850A>G	ENST00000268712.3	-	44	7109	c.6852T>C	c.(6850-6852)gtT>gtC	p.V2284V	NCOR1_ENST00000395857.3_Silent_p.V868V|NCOR1_ENST00000395851.1_Silent_p.V2181V|AC002553.1_ENST00000442828.1_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2284	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGACATGACAACTCCATGAT	0.502																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(6850-6852)gtT>gtC		nuclear receptor corepressor 1							148.0	106.0	120.0					17																	15942850		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942850A>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6852T>C	17.37:g.15942850A>G						NCOR1_ENST00000395851.1_Silent_p.V2181V|NCOR1_ENST00000395857.3_Silent_p.V868V	p.V2284V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	7109	-			2284			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.6852T>C	CCDS11175.1																																																																																				0.502	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		7	47	0	0	0	1	0	7	47				
HIVEP1	3096	broad.mit.edu	37	6	12120776	12120776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120776G>A	ENST00000379388.2	+	4	1080	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	250					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GACTTCACAGGAATTGGTTGC	0.423																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(748-750)Gaa>Aaa		human immunodeficiency virus type I enhancer binding protein 1							158.0	140.0	145.0					6																	12120776		1892	4119	6011	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120776G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.748G>A	6.37:g.12120776G>A	ENSP00000368698:p.Glu250Lys						p.E250K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1080	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	250					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.748G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539242	0.27475	.	.	ENSG00000095951	ENST00000379388	T	0.09350	2.99	5.69	5.69	0.88448	.	0.458353	0.16352	N	0.218166	T	0.05640	0.0148	L	0.60455	1.87	0.31240	N	0.695297	P	0.38922	0.651	B	0.30401	0.115	T	0.20672	-1.0268	9	.	.	.	-8.2557	15.3042	0.73979	0.0:0.1394:0.8606:0.0	.	250	P15822	ZEP1_HUMAN	K	250	ENSP00000368698:E250K	.	E	+	1	0	HIVEP1	12228762	0.998000	0.40836	0.033000	0.17914	0.224000	0.24922	5.585000	0.67497	2.676000	0.91093	0.655000	0.94253	GAA		0.423	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		52	94	0	0	0	1	0	52	94				
RNF135	84282	broad.mit.edu	37	17	29324279	29324279	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29324279G>A	ENST00000328381.5	+	4	1572	c.699G>A	c.(697-699)ccG>ccA	p.P233P	RNF135_ENST00000443677.2_Missense_Mutation_p.R131H|RNF135_ENST00000535306.2_Missense_Mutation_p.R255H|RNF135_ENST00000324689.4_Missense_Mutation_p.R179H	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	233					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TGGAAGCCCCGTCTTCCTCCT	0.478																																						ENST00000535306.2																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(763-765)cGt>cAt		ring finger protein 135							112.0	103.0	106.0					17																	29324279		2203	4300	6503	SO:0001819	synonymous_variant	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29324279G>A	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.699G>A	17.37:g.29324279G>A						RNF135_ENST00000324689.4_Missense_Mutation_p.R179H|RNF135_ENST00000328381.5_Silent_p.P233P|RNF135_ENST00000443677.2_Missense_Mutation_p.R131H	p.R255H	NM_001184992.1	NP_001171921.1	Q8IUD6	RN135_HUMAN			5	778	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	0			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	c.764G>A	CCDS11262.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.210|9.210	1.030654|1.030654	0.19512|0.19512	.|.	.|.	ENSG00000181481|ENSG00000181481	ENST00000324689;ENST00000535306;ENST00000443677|ENST00000434242	T;T|.	0.29142|.	1.58;2.93|.	4.72|4.72	-9.44|-9.44	0.00603|0.00603	.|.	.|.	.|.	.|.	.|.	T|T	0.28699|0.28699	0.0711|0.0711	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.33240|0.33240	-0.9876|-0.9876	8|4	0.66056|.	D|.	0.02|.	-0.5117|-0.5117	10.9722|10.9722	0.47446|0.47446	0.1582:0.0993:0.6445:0.0979|0.1582:0.0993:0.6445:0.0979	.|.	255;179;179|.	F5GX60;Q8IUD6-2;B2R7G9|.	.;.;.|.	H|I	179;255;65|39	ENSP00000323693:R179H;ENSP00000440470:R255H|.	ENSP00000323693:R179H|.	R|V	+|+	2|1	0|0	RNF135|RNF135	26348405|26348405	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.136000|0.136000	0.21042|0.21042	-2.634000|-2.634000	0.00869|0.00869	-3.190000|-3.190000	0.00220|0.00220	-1.854000|-1.854000	0.00565|0.00565	CGT|GTC		0.478	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		18	35	0	0	0	1	0	18	35				
PZP	5858	broad.mit.edu	37	12	9345184	9345184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9345184G>A	ENST00000261336.2	-	12	1434	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PZP_ENST00000381997.2_Missense_Mutation_p.T338M	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	469					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T338M(1)|p.T469M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATAGTCTCCGTGTGGCCACA	0.512																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			2	Substitution - Missense(2)	p.T338M(1)|p.T469M(1)	kidney(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1405-1407)aCg>aTg		pregnancy-zone protein							94.0	93.0	93.0					12																	9345184		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9345184G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1406C>T	12.37:g.9345184G>A	ENSP00000261336:p.Thr469Met					PZP_ENST00000381997.2_Missense_Mutation_p.T338M	p.T469M	NM_002864.2	NP_002855.2					12	1434	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1406C>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912499	0.33721	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.65732	-0.17;-0.17	3.23	-2.25	0.06888	Alpha-2-macroglobulin, N-terminal 2 (1);	1.422160	0.04634	U	0.404113	T	0.72153	0.3425	M	0.70903	2.155	0.09310	N	1	D;D	0.76494	0.999;0.958	D;B	0.69654	0.965;0.298	T	0.59059	-0.7525	10	0.49607	T	0.09	.	3.0205	0.06073	0.5072:0.0:0.2838:0.209	.	338;469	P20742-2;P20742	.;PZP_HUMAN	M	469;338	ENSP00000261336:T469M;ENSP00000371427:T338M	ENSP00000261336:T469M	T	-	2	0	PZP	9236451	0.000000	0.05858	0.018000	0.16275	0.179000	0.23085	-0.256000	0.08757	-0.228000	0.09869	0.313000	0.20887	ACG		0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		4	67	0	0	0	1	0	4	67				
TMEM204	79652	broad.mit.edu	37	16	1584372	1584372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1584372C>T	ENST00000566264.1	+	1	799	c.96C>T	c.(94-96)tgC>tgT	p.C32C	IFT140_ENST00000426508.2_Intron|TMEM204_ENST00000253934.5_Silent_p.C32C|IFT140_ENST00000361339.5_5'Flank	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	32					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				ACTGGGTGTGCCAGACGCTGG	0.701																																						ENST00000566264.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(94-96)tgC>tgT		transmembrane protein 204							41.0	51.0	47.0					16																	1584372		2136	4251	6387	SO:0001819	synonymous_variant	79652				response to stress	adherens junction|integral to membrane		g.chr16:1584372C>T		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"""chromosome 16 open reading frame 30"""	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.96C>T	16.37:g.1584372C>T						TMEM204_ENST00000253934.5_Silent_p.C32C|IFT140_ENST00000426508.2_Intron	p.C32C	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN			1	799	+		Hepatocellular(780;0.219)	32					D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	ENST00000566264.1	37	c.96C>T	CCDS42098.1																																																																																				0.701	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		39	37	0	0	0	1	0	39	37				
SLC2A7	155184	broad.mit.edu	37	1	9083027	9083027	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9083027G>A	ENST00000400906.1	-	3	260	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	87					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.G87G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAACAGGCCGCCCAGAGGAA	0.517																																						ENST00000400906.1																			1	Substitution - coding silent(1)	p.G87G(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(259-261)ggC>ggT		solute carrier family 2 (facilitated glucose transporter), member 7							156.0	146.0	149.0					1																	9083027		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9083027G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.261C>T	1.37:g.9083027G>A							p.G87G	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	3	260	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	87					A2A333	Silent	SNP	ENST00000400906.1	37	c.261C>T	CCDS98.2																																																																																				0.517	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		80	89	0	0	0	1	0	80	89				
ZNF330	27309	broad.mit.edu	37	4	142151400	142151400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142151400G>A	ENST00000262990.4	+	7	727	c.499G>A	c.(499-501)Gtt>Att	p.V167I	ZNF330_ENST00000421169.2_Missense_Mutation_p.V107I	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	167						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGCTGCCAGGTTTTAGAGGC	0.308																																						ENST00000262990.4																			0				kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(499-501)Gtt>Att		zinc finger protein 330							89.0	93.0	91.0					4																	142151400		2203	4298	6501	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142151400G>A	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.499G>A	4.37:g.142151400G>A	ENSP00000262990:p.Val167Ile					ZNF330_ENST00000421169.2_Missense_Mutation_p.V107I	p.V167I	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN			7	727	+	all_hematologic(180;0.162)		167					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.499G>A	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986369	0.53934	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000421169	T;T;T	0.33438	1.41;1.41;1.41	5.81	4.96	0.65561	.	0.110767	0.64402	D	0.000009	T	0.28962	0.0719	L	0.43757	1.38	0.53005	D	0.999964	B;B	0.19073	0.033;0.008	B;B	0.23574	0.047;0.019	T	0.03231	-1.1058	10	0.32370	T	0.25	-20.2008	15.2932	0.73882	0.0683:0.0:0.9317:0.0	.	107;167	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	I	167;167;107	ENSP00000262990:V167I;ENSP00000422599:V167I;ENSP00000397397:V107I	ENSP00000262990:V167I	V	+	1	0	ZNF330	142370850	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.262000	0.65501	2.748000	0.94277	0.462000	0.41574	GTT		0.308	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		30	44	0	0	0	1	0	30	44				
GRM3	2913	broad.mit.edu	37	7	86468230	86468230	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86468230A>G	ENST00000361669.2	+	4	2499	c.1400A>G	c.(1399-1401)aAc>aGc	p.N467S	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.N339S|GRM3_ENST00000546348.1_Missense_Mutation_p.N59S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	467					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGGCGATACAACGTGTTCAAT	0.403																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1399-1401)aAc>aGc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						70.0	67.0	68.0					7																	86468230		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86468230A>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1400A>G	7.37:g.86468230A>G	ENSP00000355316:p.Asn467Ser					GRM3_ENST00000536043.1_Missense_Mutation_p.N339S|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.N59S|GRM3_ENST00000439827.1_Intron	p.N467S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2499	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		467					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1400A>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962627	0.74016	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.90732	-2.72;-2.72;-2.72	5.91	5.91	0.95273	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	L	0.55213	1.73	0.80722	D	1	P;D;P	0.58970	0.529;0.984;0.875	B;P;B	0.59703	0.133;0.862;0.446	D	0.93328	0.6698	10	0.59425	D	0.04	.	15.5295	0.75942	1.0:0.0:0.0:0.0	.	59;339;467	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	S	467;59;339	ENSP00000355316:N467S;ENSP00000444064:N59S;ENSP00000441407:N339S	ENSP00000355316:N467S	N	+	2	0	GRM3	86306166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.254000	0.74563	0.533000	0.62120	AAC		0.403	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			23	19	0	0	0	1	0	23	19				
PER3	8863	broad.mit.edu	37	1	7902734	7902734	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7902734C>A	ENST00000361923.2	+	21	3700	c.3525C>A	c.(3523-3525)gcC>gcA	p.A1175A	PER3_ENST00000377532.3_Silent_p.A1184A	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1175	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGGAGGCCTGTGTCACTT	0.443																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(3550-3552)gcC>gcA		period circadian clock 3							176.0	158.0	164.0					1																	7902734		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7902734C>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3525C>A	1.37:g.7902734C>A						PER3_ENST00000361923.2_Silent_p.A1175A	p.A1184A			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	21	3776	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1175			CRY binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.3552C>A	CCDS89.1																																																																																				0.443	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		5	45	1	0	0.000602214	1	0.000649039	5	45				
TTC32	130502	broad.mit.edu	37	2	20097755	20097755	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20097755C>A	ENST00000333610.3	-	2	322	c.191G>T	c.(190-192)aGg>aTg	p.R64M	TTC32_ENST00000402414.1_Intron	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	64										kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTGCCCCCTGTTGTTATA	0.388																																						ENST00000333610.3																			0				kidney(2)|large_intestine(1)|lung(1)	4						c.(190-192)aGg>aTg		tetratricopeptide repeat domain 32							131.0	122.0	125.0					2																	20097755		2203	4300	6503	SO:0001583	missense	130502						identical protein binding	g.chr2:20097755C>A	BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"""Tetratricopeptide (TTC) repeat domain containing"""	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.191G>T	2.37:g.20097755C>A	ENSP00000333018:p.Arg64Met					TTC32_ENST00000402414.1_Intron	p.R64M	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN			2	322	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		64						Missense_Mutation	SNP	ENST00000333610.3	37	c.191G>T	CCDS33151.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856863	0.91433	.	.	ENSG00000183891	ENST00000333610;ENST00000431392	T;T	0.76709	-1.04;-0.28	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88145	0.6358	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89195	0.3553	10	0.66056	D	0.02	-32.3502	16.5783	0.84707	0.0:1.0:0.0:0.0	.	64	Q5I0X7	TTC32_HUMAN	M	64;45	ENSP00000333018:R64M;ENSP00000412874:R45M	ENSP00000333018:R64M	R	-	2	0	TTC32	19961236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.384000	0.79751	2.502000	0.84385	0.655000	0.94253	AGG		0.388	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323868.1	NM_001008237		4	86	1	0	0.184627	1	0.186383	4	86				
CAPNS2	84290	broad.mit.edu	37	16	55601375	55601375	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601375T>C	ENST00000457326.2	+	1	792	c.707T>C	c.(706-708)gTg>gCg	p.V236A	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	236	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CTGATTCAAGTGTCTATCAAA	0.463																																						ENST00000457326.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(706-708)gTg>gCg		calpain, small subunit 2							125.0	120.0	121.0					16																	55601375		1963	4168	6131	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601375T>C	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.707T>C	16.37:g.55601375T>C	ENSP00000400882:p.Val236Ala					LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.V236A	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	792	+			236			EF-hand 4.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.707T>C	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633498	0.87660	.	.	ENSG00000256812	ENST00000457326	T	0.43688	0.94	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.54367	0.1854	M	0.72118	2.19	0.53005	D	0.999964	P	0.40266	0.71	P	0.46659	0.523	T	0.58418	-0.7640	9	0.87932	D	0	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	236	Q96L46	CPNS2_HUMAN	A	236	ENSP00000400882:V236A	ENSP00000400882:V236A	V	+	2	0	CAPNS2	54158876	1.000000	0.71417	0.852000	0.33557	0.852000	0.48524	6.215000	0.72206	2.288000	0.76882	0.528000	0.53228	GTG		0.463	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		12	141	0	0	0	1	0	12	141				
SLC4A4	8671	broad.mit.edu	37	4	72400101	72400101	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72400101T>C	ENST00000264485.5	+	18	2555	c.2438T>C	c.(2437-2439)cTc>cCc	p.L813P	SLC4A4_ENST00000340595.3_Missense_Mutation_p.L769P|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L813P|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L813P	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	813					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAACATAAACTCAAGGTAAGT	0.383																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2305-2307)cTc>cCc		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							91.0	92.0	92.0					4																	72400101		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72400101T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2438T>C	4.37:g.72400101T>C	ENSP00000264485:p.Leu813Pro					SLC4A4_ENST00000425175.1_Missense_Mutation_p.L813P|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L813P|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L813P	p.L769P	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		15	2502	+			813			Interaction with CA4.		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2306T>C	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793183	0.70452	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.54	5.54	0.83059	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.994;1.0	D	0.96450	0.9333	10	0.87932	D	0	.	15.6762	0.77326	0.0:0.0:0.0:1.0	.	813;813;769;813	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	P	813;813;813;769	ENSP00000264485:L813P;ENSP00000393557:L813P;ENSP00000307349:L813P;ENSP00000344272:L769P	ENSP00000264485:L813P	L	+	2	0	SLC4A4	72618965	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	8.008000	0.88588	2.101000	0.63845	0.528000	0.53228	CTC		0.383	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		3	36	0	0	0	1	0	3	36				
SEC24B	10427	broad.mit.edu	37	4	110415857	110415857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110415857C>T	ENST00000265175.5	+	6	1388	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	SEC24B_ENST00000399100.2_Missense_Mutation_p.P410S|SEC24B_ENST00000504968.2_Missense_Mutation_p.P476S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	445					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTTCAGCTCCAGCTCCTGT	0.493																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1333-1335)Cca>Tca		SEC24 family member B							101.0	109.0	106.0					4																	110415857		2161	4295	6456	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110415857C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1333C>T	4.37:g.110415857C>T	ENSP00000265175:p.Pro445Ser					SEC24B_ENST00000399100.2_Missense_Mutation_p.P410S|SEC24B_ENST00000504968.2_Missense_Mutation_p.P476S	p.P445S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	6	1388	+		Hepatocellular(203;0.217)	445					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.1333C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	c	0.058	-1.231558	0.01505	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.25579	1.79;1.79;1.79	1.73	-1.2	0.09554	.	0.756003	0.10793	U	0.633528	T	0.13756	0.0333	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.21606	0.023;0.01;0.058;0.046;0.025	B;B;B;B;B	0.15052	0.008;0.002;0.008;0.012;0.008	T	0.36841	-0.9731	10	0.15066	T	0.55	-0.1735	8.2049	0.31449	0.0:0.6745:0.2159:0.1095	.	360;44;476;410;445	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	S	476;410;445	ENSP00000428564:P476S;ENSP00000382051:P410S;ENSP00000265175:P445S	ENSP00000265175:P445S	P	+	1	0	SEC24B	110635306	0.232000	0.23762	0.000000	0.03702	0.001000	0.01503	1.553000	0.36255	-0.942000	0.03695	-2.542000	0.00179	CCA		0.493	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			5	91	0	0	0	1	0	5	91				
ATE1	11101	broad.mit.edu	37	10	123596249	123596249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123596249G>T	ENST00000224652.6	-	10	1326	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ATE1_ENST00000535655.1_Missense_Mutation_p.P115H|ATE1_ENST00000543447.1_Missense_Mutation_p.P299H|ATE1_ENST00000540606.1_Missense_Mutation_p.P407H|ATE1_ENST00000369043.3_Missense_Mutation_p.P414H|ATE1_ENST00000369040.3_Missense_Mutation_p.P318H	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	414					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCATCTTGGGACATGAATG	0.308																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1240-1242)cCc>cAc		arginyltransferase 1							49.0	54.0	52.0					10																	123596249		2197	4293	6490	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123596249G>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1241C>A	10.37:g.123596249G>T	ENSP00000224652:p.Pro414His					ATE1_ENST00000540606.1_Missense_Mutation_p.P407H|ATE1_ENST00000535655.1_Missense_Mutation_p.P115H|ATE1_ENST00000543447.1_Missense_Mutation_p.P299H|ATE1_ENST00000224652.6_Missense_Mutation_p.P414H|ATE1_ENST00000369040.3_Missense_Mutation_p.P318H	p.P414H	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			10	1327	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	414					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.1241C>A	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599749	0.87055	.	.	ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.66	5.66	0.87406	Acyl-CoA N-acyltransferase (1);Arginine-tRNA-protein transferase, C-terminal (1);	0.058140	0.64402	D	0.000001	D	0.85146	0.5630	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.996;0.997;0.996	D	0.86863	0.2031	9	0.72032	D	0.01	-5.461	19.7537	0.96281	0.0:0.0:1.0:0.0	.	407;318;414;414	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	H	414;115;414;318;407;299	.	ENSP00000224652:P414H	P	-	2	0	ATE1	123586239	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.795000	0.99099	2.676000	0.91093	0.655000	0.94253	CCC		0.308	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		5	58	1	0	0.000602214	1	0.000649039	5	58				
SGIP1	84251	broad.mit.edu	37	1	67185056	67185056	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67185056C>T	ENST00000371037.4	+	19	1787	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	SGIP1_ENST00000371035.3_Silent_p.V360V|SGIP1_ENST00000237247.6_Silent_p.V601V|SGIP1_ENST00000371039.1_Silent_p.V373V|SGIP1_ENST00000435165.2_Silent_p.V75V|SGIP1_ENST00000371036.3_Silent_p.V372V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	570	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGAAACAGTCAATGCCTATT	0.458																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1708-1710)gtC>gtT		SH3-domain GRB2-like (endophilin) interacting protein 1							78.0	71.0	74.0					1																	67185056		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67185056C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1710C>T	1.37:g.67185056C>T						SGIP1_ENST00000435165.2_Silent_p.V75V|SGIP1_ENST00000371035.3_Silent_p.V360V|SGIP1_ENST00000371036.3_Silent_p.V372V|SGIP1_ENST00000371039.1_Silent_p.V373V|SGIP1_ENST00000237247.6_Silent_p.V601V	p.V570V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			19	1787	+			570					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1710C>T	CCDS30744.1																																																																																				0.458	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		12	16	0	0	0	1	0	12	16				
DAPK1	1612	broad.mit.edu	37	9	90315107	90315107	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90315107G>T	ENST00000408954.3	+	24	3161	c.2826G>T	c.(2824-2826)aaG>aaT	p.K942N	DAPK1_ENST00000469640.2_Missense_Mutation_p.K942N|DAPK1_ENST00000358077.5_Missense_Mutation_p.K942N|DAPK1_ENST00000491893.1_Missense_Mutation_p.K876N|DAPK1_ENST00000472284.1_Missense_Mutation_p.K942N	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	942					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGGACATGAAGGTACTTCGAA	0.463									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2824-2826)aaG>aaT		death-associated protein kinase 1							142.0	141.0	141.0					9																	90315107		1955	4138	6093	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90315107G>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2826G>T	9.37:g.90315107G>T	ENSP00000386135:p.Lys942Asn					DAPK1_ENST00000358077.5_Missense_Mutation_p.K942N|DAPK1_ENST00000491893.1_Missense_Mutation_p.K876N|DAPK1_ENST00000408954.3_Missense_Mutation_p.K942N|DAPK1_ENST00000472284.1_Missense_Mutation_p.K942N	p.K942N			P53355	DAPK1_HUMAN			24	3201	+			942					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.2826G>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768194	0.69878	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.70516	-0.4;-0.4;-0.49;-0.4;-0.42	5.95	1.45	0.22620	.	0.000000	0.53938	D	0.000048	T	0.80149	0.4570	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.80443	-0.1380	10	0.87932	D	0	.	11.8061	0.52156	0.2818:0.0:0.7182:0.0	.	876;942	B7ZLE7;P53355	.;DAPK1_HUMAN	N	942;942;942;942;876	ENSP00000350785:K942N;ENSP00000417076:K942N;ENSP00000418885:K942N;ENSP00000386135:K942N;ENSP00000419026:K876N	ENSP00000350785:K942N	K	+	3	2	DAPK1	89504927	1.000000	0.71417	0.972000	0.41901	0.684000	0.39900	3.296000	0.51802	0.388000	0.25054	0.655000	0.94253	AAG		0.463	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		35	81	1	0	4.3181e-19	1	5.64621e-19	35	81				
BCAR1	9564	broad.mit.edu	37	16	75263741	75263741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75263741C>T	ENST00000162330.5	-	7	2407	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	BCAR1_ENST00000542031.2_Missense_Mutation_p.A759T|BCAR1_ENST00000420641.3_Missense_Mutation_p.A779T|BCAR1_ENST00000535626.2_Missense_Mutation_p.A613T|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.A779T|BCAR1_ENST00000538440.2_Missense_Mutation_p.A761T|BCAR1_ENST00000393420.6_Missense_Mutation_p.A779T|BCAR1_ENST00000418647.3_Missense_Mutation_p.A807T|BCAR1_ENST00000546196.1_Missense_Mutation_p.A732T	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	761	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGTCCACGGCGTTGGTCAGT	0.652																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2194-2196)Gcc>Acc		breast cancer anti-estrogen resistance 1							83.0	76.0	78.0					16																	75263741		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263741C>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2281G>A	16.37:g.75263741C>T	ENSP00000162330:p.Ala761Thr					BCAR1_ENST00000535626.2_Missense_Mutation_p.A613T|BCAR1_ENST00000393422.2_Missense_Mutation_p.A779T|BCAR1_ENST00000542031.2_Missense_Mutation_p.A759T|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.A761T|BCAR1_ENST00000420641.3_Missense_Mutation_p.A779T|BCAR1_ENST00000393420.6_Missense_Mutation_p.A779T|BCAR1_ENST00000418647.3_Missense_Mutation_p.A807T|BCAR1_ENST00000538440.2_Missense_Mutation_p.A761T	p.A732T			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3846	-			761					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2194G>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737604	0.49045	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.69	3.74	0.42951	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.77486	2.375	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.994;0.997;0.994;0.989;0.989;0.994;0.997;0.994;0.999	T	0.66822	-0.5826	10	0.66056	D	0.02	-30.5974	11.8497	0.52405	0.0:0.9133:0.0:0.0867	.	779;613;807;759;779;779;761;761;551	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	T	761;779;779;761;807;613;779;759;732	ENSP00000162330:A761T;ENSP00000377074:A779T;ENSP00000392708:A779T;ENSP00000443841:A761T;ENSP00000391669:A807T;ENSP00000440370:A613T;ENSP00000377072:A779T;ENSP00000440415:A759T;ENSP00000442161:A732T	ENSP00000162330:A761T	A	-	1	0	BCAR1	73821242	1.000000	0.71417	0.440000	0.26846	0.006000	0.05464	5.773000	0.68898	1.102000	0.41551	-0.251000	0.11542	GCC		0.652	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		44	63	0	0	0	1	0	44	63				
SPEN	23013	broad.mit.edu	37	1	16260841	16260841	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260841G>A	ENST00000375759.3	+	11	8310	c.8106G>A	c.(8104-8106)ggG>ggA	p.G2702G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2702	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCTTACGGGGCCAGTGAATG	0.592																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(8104-8106)ggG>ggA		spen family transcriptional repressor							84.0	83.0	83.0					1																	16260841		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260841G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8106G>A	1.37:g.16260841G>A							p.G2702G	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8310	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2702			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.8106G>A	CCDS164.1																																																																																				0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		16	36	0	0	0	1	0	16	36				
NFATC3	4775	broad.mit.edu	37	16	68224912	68224912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68224912G>A	ENST00000346183.3	+	9	2364	c.2340G>A	c.(2338-2340)atG>atA	p.M780I	NFATC3_ENST00000575270.1_Missense_Mutation_p.M780I|NFATC3_ENST00000329524.4_Missense_Mutation_p.M780I|NFATC3_ENST00000349223.5_Missense_Mutation_p.M780I|NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	780					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AACAGCATATGATTCCTTCTC	0.448																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(2338-2340)atG>atA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							225.0	196.0	205.0					16																	68224912		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68224912G>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2340G>A	16.37:g.68224912G>A	ENSP00000300659:p.Met780Ile					NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.M780I|NFATC3_ENST00000329524.4_Missense_Mutation_p.M780I|NFATC3_ENST00000575270.1_Missense_Mutation_p.M780I	p.M780I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	2564	+		Ovarian(137;0.0563)	780					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.2340G>A	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	4.598	0.111128	0.08831	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.07021	3.23;3.23;3.23	5.79	1.08	0.20341	.	0.655381	0.17178	N	0.184006	T	0.03053	0.0090	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.41305	-0.9516	10	0.20046	T	0.44	0.3597	0.3897	0.00408	0.2954:0.123:0.2337:0.3479	.	780;780;780;780	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	I	780;780;780;301	ENSP00000264008:M780I;ENSP00000300659:M780I;ENSP00000331324:M780I	ENSP00000331324:M780I	M	+	3	0	NFATC3	66782413	0.391000	0.25221	0.060000	0.19600	0.830000	0.47004	0.609000	0.24238	0.336000	0.23639	-0.321000	0.08615	ATG		0.448	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		6	208	0	0	0	1	0	6	208				
TMEM51	55092	broad.mit.edu	37	1	15546060	15546060	+	Missense_Mutation	SNP	G	G	A	rs149266693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15546060G>A	ENST00000428417.1	+	3	1029	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	TMEM51_ENST00000400796.3_Missense_Mutation_p.A195T|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.A195T|TMEM51_ENST00000376008.2_Missense_Mutation_p.A195T	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	195						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTCTAAGTTGGCCAAACGACT	0.547																																						ENST00000428417.1																			0				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14						c.(583-585)Gcc>Acc		transmembrane protein 51							68.0	77.0	74.0					1																	15546060		2203	4300	6503	SO:0001583	missense	55092					integral to membrane		g.chr1:15546060G>A	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.583G>A	1.37:g.15546060G>A	ENSP00000394899:p.Ala195Thr					TMEM51_ENST00000376014.3_Missense_Mutation_p.A195T|TMEM51_ENST00000376008.2_Missense_Mutation_p.A195T|TMEM51_ENST00000400796.3_Missense_Mutation_p.A195T|TMEM51_ENST00000434578.2_3'UTR	p.A195T	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	3	1029	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	195					A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	c.583G>A	CCDS154.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098271	0.56183	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.53	3.64	0.41730	.	0.326110	0.40144	N	0.001166	T	0.23926	0.0579	L	0.44542	1.39	0.29652	N	0.843918	B	0.14438	0.01	B	0.19391	0.025	T	0.14783	-1.0460	10	0.44086	T	0.13	-6.0785	6.3965	0.21614	0.1649:0.0:0.6853:0.1498	.	195	Q9NW97	TMM51_HUMAN	T	195	ENSP00000394899:A195T;ENSP00000365182:A195T;ENSP00000383600:A195T;ENSP00000365176:A195T	ENSP00000303666:A195T	A	+	1	0	TMEM51	15418647	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	3.550000	0.53691	0.691000	0.31592	0.555000	0.69702	GCC		0.547	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		32	37	0	0	0	1	0	32	37				
MYO18A	399687	broad.mit.edu	37	17	27413970	27413970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27413970C>T	ENST00000527372.1	-	38	5876	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H	MYO18A_ENST00000531253.1_Missense_Mutation_p.R1899H|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1899H|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1862H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1899					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGCTTCTTGCGGCTCGCCTC	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(5695-5697)cGc>cAc		myosin XVIIIA							23.0	28.0	26.0					17																	27413970		2032	4167	6199	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27413970C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5696G>A	17.37:g.27413970C>T	ENSP00000437073:p.Arg1899His					MYO18A_ENST00000354329.4_Missense_Mutation_p.R1899H|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1862H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1899H|TIAF1_ENST00000408971.2_5'UTR	p.R1899H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		38	5876	-			1899					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.5696G>A	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.263558|5.263558	0.95399|0.95399	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000527859|ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	.|D;D;D;D	.|0.89617	.|-2.53;-2.53;-2.54;-2.52	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93025|0.93025	0.7780|0.7780	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.996;0.998;0.998;0.997	D|D	0.92760|0.92760	0.6223|0.6223	5|10	.|0.56958	.|D	.|0.05	.|.	19.2785|19.2785	0.94042|0.94042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1502;1862;1899;1899	.|F8W6Y3;Q92614-3;Q92614-4;Q92614	.|.;.;.;MY18A_HUMAN	T|H	162|1899;1862;1862;1899;1899;795;795;1502;180	.|ENSP00000346291:R1899H;ENSP00000435932:R1862H;ENSP00000434228:R1899H;ENSP00000437073:R1899H	.|ENSP00000346291:R1899H	A|R	-|-	1|2	0|0	MYO18A|MYO18A	24438096|24438096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.491000|3.491000	0.53252|0.53252	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	3	0	0	0	1	0	3	3				
ITM2A	9452	broad.mit.edu	37	X	78619024	78619024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78619024C>A	ENST00000373298.2	-	2	282	c.139G>T	c.(139-141)Gag>Tag	p.E47*	ITM2A_ENST00000434584.2_Intron|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	47						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGGAGCCCTCTTTTTCCTGG	0.408																																						ENST00000373298.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(139-141)Gag>Tag		integral membrane protein 2A							48.0	43.0	45.0					X																	78619024		2203	4299	6502	SO:0001587	stop_gained	9452					integral to membrane	protein binding	g.chrX:78619024C>A	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.139G>T	X.37:g.78619024C>A	ENSP00000362395:p.Glu47*					ITM2A_ENST00000434584.2_Intron|ITM2A_ENST00000469541.1_5'UTR	p.E47*	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN			2	282	-			47					B2R7X5|B4E062|Q6IBC9	Nonsense_Mutation	SNP	ENST00000373298.2	37	c.139G>T	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335331	0.95758	.	.	ENSG00000078596	ENST00000373298	.	.	.	3.57	3.57	0.40892	.	0.115412	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.6548	13.7347	0.62811	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000362395:E47X	E	-	1	0	ITM2A	78505680	0.995000	0.38212	0.333000	0.25482	0.900000	0.52787	5.261000	0.65496	1.706000	0.51276	0.415000	0.27848	GAG		0.408	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		12	10	1	0	0.00136819	1	0.00146042	12	10				
RAPGEF2	9693	broad.mit.edu	37	4	160251596	160251596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160251596G>A	ENST00000264431.4	+	7	1349	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	310	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTAGCCCAATGGAAGTGGGCA	0.368																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(928-930)atG>atA		Rap guanine nucleotide exchange factor (GEF) 2							140.0	131.0	134.0					4																	160251596		1830	4079	5909	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251596G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.930G>A	4.37:g.160251596G>A	ENSP00000264431:p.Met310Ile						p.M310I	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1349	+	all_hematologic(180;0.24)		310			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.930G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875706	0.72180	.	.	ENSG00000109756	ENST00000264431	T	0.45668	0.89	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	N	0.20766	0.605	0.80722	D	1	B	0.15473	0.013	B	0.20384	0.029	T	0.05225	-1.0898	10	0.32370	T	0.25	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	310	Q9Y4G8	RPGF2_HUMAN	I	310	ENSP00000264431:M310I	ENSP00000264431:M310I	M	+	3	0	RAPGEF2	160471046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	ATG		0.368	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		33	61	0	0	0	1	0	33	61				
C1orf106	55765	broad.mit.edu	37	1	200877871	200877871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200877871G>A	ENST00000367342.4	+	7	1043	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1orf106_ENST00000413687.2_Silent_p.V196V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	281										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AATCCCAAGTGCCAAAACCTC	0.607																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(841-843)gtG>gtA		chromosome 1 open reading frame 106							85.0	100.0	95.0					1																	200877871		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200877871G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.843G>A	1.37:g.200877871G>A						C1orf106_ENST00000413687.2_Silent_p.V196V	p.V281V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			7	1043	+			281					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.843G>A																																																																																					0.607	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		15	161	0	0	0	1	0	15	161				
RMND5A	64795	broad.mit.edu	37	2	86979116	86979116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86979116G>A	ENST00000283632.4	+	3	878	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	128	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CACTTCTTTCGACAAGGAATG	0.473																																						ENST00000283632.4																			0				kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						c.(382-384)cGa>cAa		required for meiotic nuclear division 5 homolog A (S. cerevisiae)							80.0	72.0	75.0					2																	86979116		2203	4300	6503	SO:0001583	missense	64795							g.chr2:86979116G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.383G>A	2.37:g.86979116G>A	ENSP00000283632:p.Arg128Gln						p.R128Q	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN			3	878	+			128			LisH.		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.383G>A	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280104	0.80692	.	.	ENSG00000153561	ENST00000283632	.	.	.	6.16	6.16	0.99307	LisH dimerisation motif (2);	0.000000	0.64402	D	0.000004	T	0.55305	0.1912	L	0.58354	1.805	0.58432	D	0.999999	P	0.43885	0.82	B	0.34652	0.187	T	0.57814	-0.7746	9	0.42905	T	0.14	-14.009	20.8598	0.99761	0.0:0.0:1.0:0.0	.	128	Q9H871	RMD5A_HUMAN	Q	128	.	ENSP00000283632:R128Q	R	+	2	0	RMND5A	86832627	1.000000	0.71417	0.937000	0.37676	0.992000	0.81027	8.598000	0.90852	2.937000	0.99478	0.650000	0.86243	CGA		0.473	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		21	17	0	0	0	1	0	21	17				
PLP2	5355	broad.mit.edu	37	X	49030697	49030697	+	Missense_Mutation	SNP	G	G	A	rs201497020		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49030697G>A	ENST00000376327.5	+	4	436	c.361G>A	c.(361-363)Gct>Act	p.A121T		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	121	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GGGCCTAATCGCTACGTGCCT	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		14104	0.0		0.001	False		,,,				2504	0.0					ENST00000376327.5																			0				endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						c.(361-363)Gct>Act		proteolipid protein 2 (colonic epithelium-enriched)							141.0	103.0	116.0					X																	49030697		2203	4300	6503	SO:0001583	missense	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49030697G>A	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.361G>A	X.37:g.49030697G>A	ENSP00000365505:p.Ala121Thr						p.A121T	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN			4	436	+			121			MARVEL.		A6NDT7|Q32MM8	Missense_Mutation	SNP	ENST00000376327.5	37	c.361G>A	CCDS14319.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.03	3.747994	0.69533	.	.	ENSG00000102007	ENST00000376327	T	0.26373	1.74	5.64	4.69	0.59074	Marvel (1);MARVEL-like domain (1);	0.119545	0.56097	D	0.000037	T	0.37073	0.0990	M	0.87900	2.915	0.09310	N	0.999999	D	0.64830	0.994	P	0.45406	0.479	T	0.41484	-0.9506	10	0.31617	T	0.26	-0.2637	11.1815	0.48631	0.0981:0.0:0.9019:0.0	.	121	Q04941	PLP2_HUMAN	T	121	ENSP00000365505:A121T	ENSP00000365505:A121T	A	+	1	0	PLP2	48917641	0.203000	0.23435	0.001000	0.08648	0.064000	0.16182	2.512000	0.45485	0.980000	0.38523	0.513000	0.50165	GCT		0.527	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668		16	20	0	0	0	1	0	16	20				
OR2F1	26211	broad.mit.edu	37	7	143657789	143657789	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143657789C>A	ENST00000392899.1	+	1	763	c.726C>A	c.(724-726)gcC>gcA	p.A242A	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	242					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACACGTGTGCCTCTCACCTCA	0.507																																						ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(724-726)gcC>gcA		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							169.0	141.0	151.0					7																	143657789		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657789C>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.726C>A	7.37:g.143657789C>A							p.A242A	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	763	+	Melanoma(164;0.0903)		242					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.726C>A	CCDS5887.1																																																																																				0.507	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			5	86	1	0	0.184627	1	0.186383	5	86				
SFMBT1	51460	broad.mit.edu	37	3	52968829	52968829	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52968829G>A	ENST00000394752.3	-	5	835	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SFMBT1_ENST00000296295.6_Splice_Site_p.G151G|SFMBT1_ENST00000394750.1_Splice_Site_p.G151G|SFMBT1_ENST00000358080.2_Splice_Site_p.G151G	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	151					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAATACTCACGCCCTCTAGCA	0.443																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.e5+1		Scm-like with four mbt domains 1							86.0	71.0	76.0					3																	52968829		2203	4300	6503	SO:0001630	splice_region_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52968829G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.453+1C>T	3.37:g.52968829G>A						SFMBT1_ENST00000296295.6_Splice_Site_p.G151_splice|SFMBT1_ENST00000394750.1_Splice_Site_p.G151_splice|SFMBT1_ENST00000358080.2_Splice_Site_p.G151_splice	p.G151_splice	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	5	835	-			151					Q402F7|Q96C73|Q9Y4Q9	Splice_Site	SNP	ENST00000394752.3	37	c.453_splice	CCDS2867.1																																																																																				0.443	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	Silent	17	17	0	0	0	1	0	17	17				
TAS2R38	5726	broad.mit.edu	37	7	141672740	141672740	+	Silent	SNP	G	G	T	rs575623439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141672740G>T	ENST00000547270.1	-	1	833	c.750C>A	c.(748-750)gtC>gtA	p.V250V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	250					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGAAAAAGGAGACAAGAGACT	0.502																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(748-750)gtC>gtA		taste receptor, type 2, member 38							58.0	58.0	58.0					7																	141672740		2203	4300	6503	SO:0001819	synonymous_variant	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672740G>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.750C>A	7.37:g.141672740G>T							p.V250V	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	833	-	Melanoma(164;0.0171)		250					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	c.750C>A	CCDS34765.1																																																																																				0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		4	64	1	0	1	1	1	4	64				
GPR84	53831	broad.mit.edu	37	12	54756608	54756608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756608G>A	ENST00000551809.1	-	1	1663	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.A343V			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGACTCTGGCATCCAGAAT	0.537																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1027-1029)gCc>gTc		G protein-coupled receptor 84							132.0	134.0	133.0					12																	54756608		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756608G>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1028C>T	12.37:g.54756608G>A	ENSP00000450310:p.Ala343Val					GPR84_ENST00000267015.3_Missense_Mutation_p.A343V|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.A343V			Q9NQS5	GPR84_HUMAN			1	1663	-			343					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.1028C>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335426	0.24253	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37411	1.2;1.2	5.07	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.522391	0.17390	N	0.175955	T	0.29355	0.0731	L	0.31752	0.955	0.37465	D	0.915365	B	0.27910	0.193	B	0.34536	0.185	T	0.19877	-1.0292	10	0.38643	T	0.18	-11.5462	10.8801	0.46933	0.0924:0.0:0.9076:0.0	.	343	Q9NQS5	GPR84_HUMAN	V	343	ENSP00000267015:A343V;ENSP00000450310:A343V	ENSP00000267015:A343V	A	-	2	0	GPR84	53042875	1.000000	0.71417	0.882000	0.34594	0.388000	0.30384	3.668000	0.54554	2.533000	0.85409	0.561000	0.74099	GCC		0.537	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			9	104	0	0	0	1	0	9	104				
RARS2	57038	broad.mit.edu	37	6	88229379	88229379	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88229379T>C	ENST00000369536.5	-	14	1204	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	387					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACATCTCCTCTTCGAGTCTTC	0.398																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1159-1161)Aga>Gga		arginyl-tRNA synthetase 2, mitochondrial							116.0	108.0	111.0					6																	88229379		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229379T>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1159A>G	6.37:g.88229379T>C	ENSP00000358549:p.Arg387Gly						p.R387G	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	14	1204	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	387					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.1159A>G	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497359	0.64186	.	.	ENSG00000146282	ENST00000369536	T	0.63913	-0.07	5.97	5.97	0.96955	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.287466	0.45361	N	0.000370	T	0.53286	0.1787	L	0.59912	1.85	0.48087	D	0.99958	B;B	0.32653	0.048;0.379	B;B	0.37047	0.099;0.24	T	0.61227	-0.7105	10	0.72032	D	0.01	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	387;212	Q5T160;E1P510	SYRM_HUMAN;.	G	387	ENSP00000358549:R387G	ENSP00000358549:R387G	R	-	1	2	RARS2	88286098	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.261000	0.58841	2.285000	0.76669	0.477000	0.44152	AGA		0.398	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		4	46	0	0	0	1	0	4	46				
SNN	8303	broad.mit.edu	37	16	11770176	11770176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11770176C>T	ENST00000329565.5	+	2	473	c.261C>T	c.(259-261)caC>caT	p.H87H	TXNDC11_ENST00000570917.1_5'Flank	NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	87					response to abiotic stimulus (GO:0009628)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				endometrium(1)	1						CGGAAGTCCACGGCTGAGCCA	0.622																																						ENST00000329565.5																			0				endometrium(1)	1						c.(259-261)caC>caT		stannin							58.0	39.0	46.0					16																	11770176		2197	4300	6497	SO:0001819	synonymous_variant	8303				response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane		g.chr16:11770176C>T	AF030196	CCDS10549.1	16p13	2008-02-05			ENSG00000184602	ENSG00000184602			11149	protein-coding gene	gene with protein product		603032				9657854	Standard	NM_003498		Approved		uc002dbf.3	O75324	OTTHUMG00000090535	ENST00000329565.5:c.261C>T	16.37:g.11770176C>T							p.H87H	NM_003498.5	NP_003489.1	O75324	SNN_HUMAN			2	473	+			87					D3DUG4|Q6FGI0	Silent	SNP	ENST00000329565.5	37	c.261C>T	CCDS10549.1																																																																																				0.622	SNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207059.1	NM_003498		13	18	0	0	0	1	0	13	18				
TBC1D15	64786	broad.mit.edu	37	12	72274292	72274292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72274292G>A	ENST00000550746.1	+	4	312	c.248G>A	c.(247-249)aGa>aAa	p.R83K	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R83K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R91K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	83					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAAGAAAGAGGTCATCGA	0.338																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(247-249)aGa>aAa		TBC1 domain family, member 15							45.0	40.0	42.0					12																	72274292		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72274292G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.248G>A	12.37:g.72274292G>A	ENSP00000448182:p.Arg83Lys					TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R91K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R83K	p.R83K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			4	312	+			83					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.248G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	9.160	1.018497	0.19355	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.05319	3.46;3.46;3.46	5.92	5.02	0.67125	Domain of unknown function DUF3548 (1);	0.222835	0.49305	D	0.000158	T	0.02848	0.0085	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.003	T	0.39418	-0.9615	10	0.06099	T	0.92	-0.3388	9.0674	0.36471	0.1602:0.0:0.8398:0.0	.	91;83;83	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	83;91;83	ENSP00000448182:R83K;ENSP00000318262:R91K;ENSP00000420678:R83K	ENSP00000318262:R91K	R	+	2	0	TBC1D15	70560559	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	3.435000	0.52849	2.801000	0.96364	0.650000	0.86243	AGA		0.338	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		15	16	0	0	0	1	0	15	16				
CLK1	1195	broad.mit.edu	37	2	201722764	201722764	+	Nonsense_Mutation	SNP	G	G	T	rs140826426	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201722764G>T	ENST00000321356.4	-	6	732	c.597C>A	c.(595-597)taC>taA	p.Y199*	CLK1_ENST00000434813.2_Nonsense_Mutation_p.Y241*|CLK1_ENST00000409769.2_Nonsense_Mutation_p.Y22*|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CAGCTTCACAGTATCTATCCA	0.378																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(721-723)taC>taA		CDC-like kinase 1							175.0	165.0	169.0					2																	201722764		2203	4300	6503	SO:0001587	stop_gained	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722764G>T	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.597C>A	2.37:g.201722764G>T	ENSP00000326830:p.Tyr199*					CLK1_ENST00000321356.4_Nonsense_Mutation_p.Y199*|CLK1_ENST00000409769.2_Nonsense_Mutation_p.Y22*	p.Y241*	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			6	1057	-			199			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Nonsense_Mutation	SNP	ENST00000321356.4	37	c.723C>A	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530663	0.96446	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	.	.	.	5.71	-7.01	0.01594	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5194	0.84309	0.6257:0.0:0.3743:0.0	.	.	.	.	X	199;169;22;241	.	ENSP00000326830:Y199X	Y	-	3	2	CLK1	201431009	0.001000	0.12720	0.762000	0.31397	0.988000	0.76386	-0.501000	0.06398	-1.383000	0.02106	-0.244000	0.11960	TAC		0.378	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			12	77	1	0	0.00010058	1	0.000111121	12	77				
ALPK3	57538	broad.mit.edu	37	15	85382937	85382937	+	Nonsense_Mutation	SNP	C	C	T	rs199599837		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85382937C>T	ENST00000258888.5	+	5	1200	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	345	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTAGGTGTCGAGAAGAAGA	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17074	0.0		0.0	False		,,,				2504	0.0					ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1033-1035)Cga>Tga		alpha-kinase 3							74.0	68.0	70.0					15																	85382937		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85382937C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1033C>T	15.37:g.85382937C>T	ENSP00000258888:p.Arg345*						p.R345*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1200	+			345			Ig-like 1.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.1033C>T	CCDS10333.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.881317	0.97062	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.92	3.99	0.46301	.	0.813757	0.11112	N	0.598497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	0.0453	12.3087	0.54915	0.1709:0.8291:0.0:0.0	.	.	.	.	X	345	.	ENSP00000258888:R345X	R	+	1	2	ALPK3	83183941	0.884000	0.30299	0.971000	0.41717	0.551000	0.35334	2.760000	0.47581	1.037000	0.40024	-0.181000	0.13052	CGA		0.632	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		27	43	0	0	0	1	0	27	43				
AGAP11	119385	broad.mit.edu	37	10	88769219	88769219	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88769219G>A	ENST00000444431.1	+	0	3819				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CAATGACCTAGCCAACAGCAT	0.547																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							103.0	121.0	115.0					10																	88769219		2198	4296	6494			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769219G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769219G>A						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	3819	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.547	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		62	95	0	0	0	1	0	62	95				
DMXL1	1657	broad.mit.edu	37	5	118500956	118500956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500956G>A	ENST00000311085.8	+	21	5031	c.4951G>A	c.(4951-4953)Gtg>Atg	p.V1651M	DMXL1_ENST00000539542.1_Missense_Mutation_p.V1651M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1651										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGAAAGCTGTGATTTGGGG	0.299																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4951-4953)Gtg>Atg		Dmx-like 1							54.0	60.0	58.0					5																	118500956		2201	4294	6495	SO:0001583	missense	1657							g.chr5:118500956G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4951G>A	5.37:g.118500956G>A	ENSP00000309690:p.Val1651Met					DMXL1_ENST00000539542.1_Missense_Mutation_p.V1651M	p.V1651M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	21	5031	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1651						Missense_Mutation	SNP	ENST00000311085.8	37	c.4951G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554685	0.86231	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.58652	0.32;0.32	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.982;0.989	T	0.79667	-0.1708	10	0.72032	D	0.01	-10.7758	19.8046	0.96525	0.0:0.0:1.0:0.0	.	1651;1651	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1651	ENSP00000309690:V1651M;ENSP00000439479:V1651M	ENSP00000309690:V1651M	V	+	1	0	DMXL1	118528855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.558000	0.82253	2.754000	0.94517	0.650000	0.86243	GTG		0.299	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		11	27	0	0	0	1	0	11	27				
MMP10	4319	broad.mit.edu	37	11	102647349	102647349	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102647349G>T	ENST00000279441.4	-	5	817	c.781C>A	c.(781-783)Ctc>Atc	p.L261I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	261					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TCACCGTAGAGAGACTGAATG	0.463																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(781-783)Ctc>Atc		matrix metallopeptidase 10 (stromelysin 2)							115.0	106.0	109.0					11																	102647349		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647349G>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.781C>A	11.37:g.102647349G>T	ENSP00000279441:p.Leu261Ile						p.L261I	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	817	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	261					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.781C>A	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	2.170	-0.390007	0.04932	.	.	ENSG00000166670	ENST00000279441	T	0.31247	1.5	4.31	3.39	0.38822	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.391971	0.20046	N	0.100404	T	0.44435	0.1293	L	0.61036	1.89	0.53688	D	0.999973	D	0.71674	0.998	D	0.85130	0.997	T	0.39375	-0.9617	10	0.13853	T	0.58	.	7.2514	0.26152	0.0873:0.0:0.646:0.2667	.	261	P09238	MMP10_HUMAN	I	261	ENSP00000279441:L261I	ENSP00000279441:L261I	L	-	1	0	MMP10	102152559	0.999000	0.42202	0.586000	0.28679	0.072000	0.16883	2.840000	0.48215	1.142000	0.42291	-0.136000	0.14681	CTC		0.463	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			15	63	1	0	3.41278e-10	1	4.19267e-10	15	63				
TMEM2	23670	broad.mit.edu	37	9	74361227	74361227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74361227C>A	ENST00000377044.4	-	3	901	c.362G>T	c.(361-363)aGg>aTg	p.R121M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R121M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	121	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATCCCAATTCCTGAGACGAGG	0.418																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(361-363)aGg>aTg		transmembrane protein 2							116.0	110.0	112.0					9																	74361227		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74361227C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.362G>T	9.37:g.74361227C>A	ENSP00000366243:p.Arg121Met					TMEM2_ENST00000377066.5_Missense_Mutation_p.R121M	p.R121M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	3	901	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	121			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.362G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541054	0.65085	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.73363	-0.74;-0.69	5.5	4.61	0.57282	G8 domain (1);	0.202787	0.56097	D	0.000034	T	0.73071	0.3540	L	0.51422	1.61	0.80722	D	1	P;D	0.54397	0.951;0.966	P;P	0.54174	0.744;0.627	T	0.71227	-0.4655	10	0.35671	T	0.21	.	5.0051	0.14284	0.0:0.6174:0.1705:0.2121	.	121;121	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	M	121	ENSP00000366243:R121M;ENSP00000366266:R121M	ENSP00000366243:R121M	R	-	2	0	TMEM2	73551047	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.612000	0.36889	1.332000	0.45431	-0.136000	0.14681	AGG		0.418	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		31	43	1	0	1.21669e-08	1	1.46242e-08	31	43				
SH3RF3	344558	broad.mit.edu	37	2	110036088	110036088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110036088C>T	ENST00000309415.6	+	5	1393	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	465	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGTCCAGCTGCCCCTCAACGT	0.662																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1393-1395)Ccc>Tcc		SH3 domain containing ring finger 3							28.0	33.0	31.0					2																	110036088		2093	4210	6303	SO:0001583	missense	344558						zinc ion binding	g.chr2:110036088C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1393C>T	2.37:g.110036088C>T	ENSP00000309186:p.Pro465Ser						p.P465S	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			5	1393	+			465			SH3 3.		A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1393C>T		.	.	.	.	.	.	.	.	.	.	C	17.14	3.313194	0.60414	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.28895	1.59;1.59	5.27	5.27	0.74061	Src homology-3 domain (2);	0.481200	0.21290	N	0.076982	T	0.20740	0.0499	.	.	.	0.52501	D	0.999955	P	0.41929	0.765	B	0.43052	0.406	T	0.01998	-1.1232	9	0.05351	T	0.99	-17.7884	15.7471	0.77955	0.0:1.0:0.0:0.0	.	465	Q8TEJ3	SH3R3_HUMAN	S	465	ENSP00000414997:P465S;ENSP00000309186:P465S	ENSP00000309186:P465S	P	+	1	0	SH3RF3	109402520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.881000	0.56152	2.758000	0.94735	0.561000	0.74099	CCC		0.662	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		4	4	0	0	0	1	0	4	4				
SLC25A46	91137	broad.mit.edu	37	5	110092436	110092436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110092436G>A	ENST00000355943.3	+	7	781	c.655G>A	c.(655-657)Gca>Aca	p.A219T	SLC25A46_ENST00000509442.2_Missense_Mutation_p.A128T|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.A57T|SLC25A46_ENST00000509432.1_Missense_Mutation_p.A6T|SLC25A46_ENST00000447245.2_Missense_Mutation_p.A219T|SLC25A46_ENST00000504098.1_Missense_Mutation_p.A73T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	219					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTTTATTCAGCAAGTCTGAT	0.264																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(655-657)Gca>Aca		solute carrier family 25, member 46							133.0	131.0	132.0					5																	110092436		2202	4299	6501	SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110092436G>A	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.655G>A	5.37:g.110092436G>A	ENSP00000348211:p.Ala219Thr					SLC25A46_ENST00000504098.1_Missense_Mutation_p.A73T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.A128T|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.A219T|SLC25A46_ENST00000513807.1_Missense_Mutation_p.A57T|SLC25A46_ENST00000509432.1_Missense_Mutation_p.A6T	p.A219T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	7	781	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	219					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.655G>A	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	37	5.989815	0.97179	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	T;T;T;T;T;D	0.88509	-1.23;-1.23;-1.23;-1.23;-1.23;-2.39	6.17	6.17	0.99709	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	M	0.69463	2.115	0.80722	D	1	P;D	0.63880	0.911;0.993	B;P	0.59487	0.232;0.858	D	0.92958	0.6386	10	0.72032	D	0.01	-18.6799	20.8794	0.99867	0.0:0.0:1.0:0.0	.	128;219	B4DY98;Q96AG3	.;S2546_HUMAN	T	57;128;219;73;219;73;6	ENSP00000421134:A57T;ENSP00000424136:A128T;ENSP00000348211:A219T;ENSP00000399717:A219T;ENSP00000425708:A73T;ENSP00000426604:A6T	ENSP00000348211:A219T	A	+	1	0	SLC25A46	110120335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.980000	0.93460	2.941000	0.99782	0.655000	0.94253	GCA		0.264	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		21	44	0	0	0	1	0	21	44				
DMD	1756	broad.mit.edu	37	X	31196871	31196871	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31196871A>T	ENST00000357033.4	-	70	10344	c.10138T>A	c.(10138-10140)Ttt>Att	p.F3380I	DMD_ENST00000541735.1_Missense_Mutation_p.F920I|DMD_ENST00000361471.4_Missense_Mutation_p.F312I|DMD_ENST00000474231.1_Missense_Mutation_p.F920I|DMD_ENST00000378680.2_Missense_Mutation_p.F312I|DMD_ENST00000378677.2_Missense_Mutation_p.F3376I|DMD_ENST00000378702.4_Missense_Mutation_p.F312I|DMD_ENST00000378723.3_Missense_Mutation_p.F312I|DMD_ENST00000343523.2_Missense_Mutation_p.F920I|DMD_ENST00000378707.3_Missense_Mutation_p.F920I|DMD_ENST00000359836.1_Missense_Mutation_p.F920I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3380	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGGTTCGAAATTTGTTTTTT	0.433																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(10138-10140)Ttt>Att		dystrophin							161.0	133.0	143.0					X																	31196871		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31196871A>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10138T>A	X.37:g.31196871A>T	ENSP00000354923:p.Phe3380Ile					DMD_ENST00000378680.2_Missense_Mutation_p.F312I|DMD_ENST00000361471.4_Missense_Mutation_p.F312I|DMD_ENST00000359836.1_Missense_Mutation_p.F920I|DMD_ENST00000378702.4_Missense_Mutation_p.F312I|DMD_ENST00000378723.3_Missense_Mutation_p.F312I|DMD_ENST00000378707.3_Missense_Mutation_p.F920I|DMD_ENST00000541735.1_Missense_Mutation_p.F920I|DMD_ENST00000378677.2_Missense_Mutation_p.F3376I|DMD_ENST00000474231.1_Missense_Mutation_p.F920I|DMD_ENST00000343523.2_Missense_Mutation_p.F920I	p.F3380I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			70	10344	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3380			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10138T>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.9|29.9	5.041847|5.041847	0.93685|0.93685	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705|ENST00000465285	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.93426|.	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.38436|.	U|.	0.001689|.	T|T	0.80199|0.80199	0.4579|0.4579	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	D;P;P;D;P;P;D;P;P;D;D;P;P;D;P;B|.	0.76494|.	0.967;0.61;0.651;0.999;0.799;0.799;0.989;0.919;0.919;0.969;0.982;0.481;0.493;0.983;0.889;0.361|.	P;P;B;D;B;B;D;P;P;P;P;B;B;P;P;B|.	0.78314|.	0.879;0.598;0.15;0.991;0.395;0.395;0.944;0.67;0.579;0.711;0.849;0.414;0.298;0.834;0.611;0.156|.	D|D	0.83665|0.83665	0.0163|0.0163	10|5	0.72032|.	D|.	0.01|.	.|.	14.5712|14.5712	0.68213|0.68213	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	312;3372;3380;3376;2039;2036;920;920;920;920;920;3257;312;312;312;312|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	I|N	3372;2039;2036;312;1076;3376;3380;920;920;3380;3257;920;920;312;920;312;312;170|1108	ENSP00000367997:F312I;ENSP00000350765:F1076I;ENSP00000367948:F3376I;ENSP00000354923:F3380I;ENSP00000352894:F920I;ENSP00000340057:F920I;ENSP00000367979:F920I;ENSP00000444119:F920I;ENSP00000367974:F312I;ENSP00000417123:F920I;ENSP00000354464:F312I;ENSP00000367951:F312I;ENSP00000367977:F170I|.	ENSP00000340057:F920I|.	F|I	-|-	1|2	0|0	DMD|DMD	31106792|31106792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.679000|8.679000	0.91220|0.91220	2.018000|2.018000	0.59344|0.59344	0.486000|0.486000	0.48141|0.48141	TTT|ATT		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	101	0	0	0	1	0	4	101				
CLCN6	1185	broad.mit.edu	37	1	11898641	11898641	+	Missense_Mutation	SNP	C	C	A	rs199917825		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11898641C>A	ENST00000346436.6	+	22	2505	c.2453C>A	c.(2452-2454)aCc>aAc	p.T818N	CLCN6_ENST00000376496.3_Missense_Mutation_p.T818N|CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376487.3_Missense_Mutation_p.T796N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	818	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCCAACACCCACGTCTCC	0.617											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2452-2454)aCc>aAc		chloride channel, voltage-sensitive 6							162.0	129.0	140.0					1																	11898641		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898641C>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2453C>A	1.37:g.11898641C>A	ENSP00000234488:p.Thr818Asn		OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376487.3_Missense_Mutation_p.T796N|CLCN6_ENST00000376496.3_Missense_Mutation_p.T818N|CLCN6_ENST00000312413.6_3'UTR	p.T818N	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	22	2505	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	818			CBS 2.		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2453C>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926280	0.73327	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.94576	-3.46;-3.46;-3.46	5.4	4.48	0.54585	Cystathionine beta-synthase, core (3);	0.142203	0.64402	D	0.000006	D	0.93229	0.7843	L	0.55743	1.74	0.80722	D	1	P;P	0.46784	0.859;0.884	B;P	0.44860	0.332;0.462	D	0.92288	0.5839	10	0.42905	T	0.14	-21.8246	15.2127	0.73238	0.0:0.8589:0.1411:0.0	.	796;818	F8W9R3;P51797	.;CLCN6_HUMAN	N	818;796;818	ENSP00000234488:T818N;ENSP00000365670:T796N;ENSP00000365679:T818N	ENSP00000234488:T818N	T	+	2	0	CLCN6	11821228	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.635000	0.61332	1.253000	0.44018	0.561000	0.74099	ACC		0.617	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		5	41	1	0	0.0293803	1	0.0301098	5	41				
PRKDC	5591	broad.mit.edu	37	8	48731985	48731985	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48731985G>T	ENST00000314191.2	-	68	9476	c.9420C>A	c.(9418-9420)ttC>ttA	p.F3140L	PRKDC_ENST00000338368.3_Missense_Mutation_p.F3140L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3141	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAAAGCTGATGAACTCCTGAA	0.299								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(9418-9420)ttC>ttA	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							87.0	87.0	87.0					8																	48731985		1807	4061	5868	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48731985G>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9420C>A	8.37:g.48731985G>T	ENSP00000313420:p.Phe3140Leu					PRKDC_ENST00000338368.3_Missense_Mutation_p.F3140L|PRKDC_ENST00000523565.1_5'UTR	p.F3140L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			68	9476	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3141			FAT.|KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.9420C>A		.	.	.	.	.	.	.	.	.	.	G	19.83	3.899804	0.72754	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68331	-0.32;-0.32	5.43	2.54	0.30619	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.78641	0.4315	M	0.78637	2.42	0.53005	D	0.999964	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.993	T	0.78041	-0.2359	10	0.54805	T	0.06	.	9.6681	0.39996	0.317:0.0:0.683:0.0	.	3140;3141	E7EUY0;P78527	.;PRKDC_HUMAN	L	3140	ENSP00000313420:F3140L;ENSP00000345182:F3140L	ENSP00000313420:F3140L	F	-	3	2	PRKDC	48894538	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	1.363000	0.34159	0.743000	0.32719	0.655000	0.94253	TTC		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	75	1	0	0.00307968	1	0.00325696	6	75				
UBR4	23352	broad.mit.edu	37	1	19415397	19415397	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19415397G>T	ENST00000375254.3	-	98	14313	c.14286C>A	c.(14284-14286)acC>acA	p.T4762T	UBR4_ENST00000543981.1_Silent_p.T426T|UBR4_ENST00000375224.1_Silent_p.T469T|UBR4_ENST00000429347.2_Silent_p.T285T|UBR4_ENST00000375226.2_Silent_p.T4738T|UBR4_ENST00000375267.2_Silent_p.T4762T|UBR4_ENST00000375217.2_Silent_p.T4755T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4762					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTGCCAAGGTCCCAATGC	0.567																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(14284-14286)acC>acA		ubiquitin protein ligase E3 component n-recognin 4							79.0	73.0	75.0					1																	19415397		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19415397G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14286C>A	1.37:g.19415397G>T						UBR4_ENST00000375224.1_Silent_p.T469T|UBR4_ENST00000375254.3_Silent_p.T4762T|UBR4_ENST00000375217.2_Silent_p.T4755T|UBR4_ENST00000375226.2_Silent_p.T4738T|UBR4_ENST00000543981.1_Silent_p.T426T|UBR4_ENST00000429347.2_Silent_p.T285T	p.T4762T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	98	14289	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4762					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.14286C>A	CCDS189.1																																																																																				0.567	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	63	1	0	0.014758	1	0.0152625	5	63				
AKNAD1	254268	broad.mit.edu	37	1	109394328	109394328	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394328T>C	ENST00000370001.3	-	2	1227	c.959A>G	c.(958-960)aAa>aGa	p.K320R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K320R|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K320R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	320						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATTTTCCCTTTCTGCTCTTG	0.408																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(958-960)aAa>aGa		AKNA domain containing 1							258.0	251.0	253.0					1																	109394328		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109394328T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.959A>G	1.37:g.109394328T>C	ENSP00000359018:p.Lys320Arg					AKNAD1_ENST00000369994.1_Missense_Mutation_p.K320R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K320R|AKNAD1_ENST00000357393.4_Intron	p.K320R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			2	1227	-			320					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.959A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089207	0.36855	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09255	3.02;3.06;3.0	5.89	0.615	0.17608	.	0.495767	0.21637	N	0.071386	T	0.07007	0.0178	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.60609	0.877	T	0.14392	-1.0474	10	0.39692	T	0.17	-7.0534	0.9699	0.01413	0.2363:0.146:0.1272:0.4905	.	320	Q5T1N1	AKND1_HUMAN	R	320	ENSP00000359018:K320R;ENSP00000359011:K320R;ENSP00000359012:K320R	ENSP00000359011:K320R	K	-	2	0	AKNAD1	109195851	0.001000	0.12720	0.002000	0.10522	0.338000	0.28826	0.277000	0.18734	0.124000	0.18369	0.533000	0.62120	AAA		0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		20	324	0	0	0	1	0	20	324				
TG	7038	broad.mit.edu	37	8	133900548	133900548	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133900548C>T	ENST00000220616.4	+	10	2536	c.2496C>T	c.(2494-2496)gtC>gtT	p.V832V	TG_ENST00000377869.1_Silent_p.V832V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	832	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGATGTCTTCCCGGTGC	0.527																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2494-2496)gtC>gtT		thyroglobulin							81.0	79.0	80.0					8																	133900548		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900548C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2496C>T	8.37:g.133900548C>T						TG_ENST00000377869.1_Silent_p.V832V	p.V832V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2536	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	832			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2496C>T	CCDS34944.1																																																																																				0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		9	40	0	0	0	1	0	9	40				
LNPEP	4012	broad.mit.edu	37	5	96314935	96314935	+	Missense_Mutation	SNP	C	C	A	rs138619934	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96314935C>A	ENST00000231368.5	+	2	805	c.113C>A	c.(112-114)cCt>cAt	p.P38H	LNPEP_ENST00000395770.3_Missense_Mutation_p.P24H	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	38					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTTACATCCTCTAGAGCCT	0.493																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(112-114)cCt>cAt		leucyl/cystinyl aminopeptidase							84.0	91.0	88.0					5																	96314935		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96314935C>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.113C>A	5.37:g.96314935C>A	ENSP00000231368:p.Pro38His					LNPEP_ENST00000395770.3_Missense_Mutation_p.P24H	p.P38H	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	805	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	38					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.113C>A	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275962	0.59649	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.01279	5.06;5.07	5.96	5.96	0.96718	.	0.112010	0.64402	D	0.000006	T	0.01976	0.0062	N	0.17082	0.46	0.45676	D	0.998596	D	0.52996	0.957	P	0.44897	0.463	T	0.70332	-0.4901	10	0.49607	T	0.09	.	19.989	0.97359	0.0:1.0:0.0:0.0	.	38	Q9UIQ6	LCAP_HUMAN	H	38;24	ENSP00000231368:P38H;ENSP00000379117:P24H	ENSP00000231368:P38H	P	+	2	0	LNPEP	96340691	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	3.552000	0.53705	2.830000	0.97506	0.585000	0.79938	CCT		0.493	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		5	100	1	0	3.59834e-05	1	4.01776e-05	5	100				
CAMTA2	23125	broad.mit.edu	37	17	4883291	4883291	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4883291G>T	ENST00000348066.3	-	9	1449	c.1326C>A	c.(1324-1326)ttC>ttA	p.F442L	CAMTA2_ENST00000358183.4_Missense_Mutation_p.F442L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F447L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F444L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F465L|CAMTA2_ENST00000361571.5_Missense_Mutation_p.F441L|CAMTA2_ENST00000571831.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	442					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGGATGAAGAAGCAGTTTC	0.642																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1321-1323)ttC>ttA		calmodulin binding transcription activator 2							62.0	63.0	63.0					17																	4883291		2198	4288	6486	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883291G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1326C>A	17.37:g.4883291G>T	ENSP00000321813:p.Phe442Leu					CAMTA2_ENST00000414043.3_Missense_Mutation_p.F465L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F442L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F442L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F444L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F447L	p.F441L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			8	1734	-			442					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1323C>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294446	0.60086	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.38077	2.38;1.46;1.16;1.47;1.24	4.32	3.35	0.38373	.	0.380607	0.25192	N	0.032443	T	0.37839	0.1018	N	0.24115	0.695	0.27431	N	0.953995	D;D;D;D;P	0.58268	0.969;0.969;0.982;0.969;0.954	D;D;D;D;D	0.68943	0.914;0.914;0.961;0.914;0.943	T	0.16012	-1.0417	10	0.13108	T	0.6	-15.6247	9.7297	0.40352	0.1018:0.0:0.8982:0.0	.	418;465;444;442;441	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	L	465;444;441;442;442	ENSP00000412886:F465L;ENSP00000370712:F444L;ENSP00000354828:F441L;ENSP00000350910:F442L;ENSP00000321813:F442L	ENSP00000321813:F442L	F	-	3	2	CAMTA2	4824015	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.693000	0.25497	1.047000	0.40274	0.462000	0.41574	TTC		0.642	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		30	70	1	0	3.03874e-20	1	3.98683e-20	30	70				
TEKT5	146279	broad.mit.edu	37	16	10721459	10721459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10721459C>T	ENST00000283025.2	-	7	1510	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	480						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCCCACCAGGCGCGGGGTGCA	0.567																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(1438-1440)cGc>cAc		tektin 5							59.0	60.0	60.0					16																	10721459		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10721459C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1439G>A	16.37:g.10721459C>T	ENSP00000283025:p.Arg480His					TEKT5_ENST00000574923.1_5'UTR	p.R480H	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			7	1510	-			480					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.1439G>A	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815254	0.90790	.	.	ENSG00000153060	ENST00000283025	T	0.03413	3.94	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000026	T	0.20700	0.0498	M	0.87097	2.86	0.58432	D	0.999996	D	0.89917	1.0	D	0.69142	0.962	T	0.00950	-1.1503	10	0.72032	D	0.01	-14.1343	15.0558	0.71912	0.0:1.0:0.0:0.0	.	480	Q96M29	TEKT5_HUMAN	H	480	ENSP00000283025:R480H	ENSP00000283025:R480H	R	-	2	0	TEKT5	10628960	1.000000	0.71417	0.967000	0.41034	0.877000	0.50540	5.521000	0.67086	2.329000	0.79093	0.505000	0.49811	CGC		0.567	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		34	63	0	0	0	1	0	34	63				
MTRF1	9617	broad.mit.edu	37	13	41814544	41814544	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41814544T>C	ENST00000379480.4	-	6	823	c.723A>G	c.(721-723)cgA>cgG	p.R241R	MTRF1_ENST00000430347.2_Silent_p.R254R|MTRF1_ENST00000379477.1_Silent_p.R241R	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	241					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACCGGAAATTCGGGCGGCTG	0.483																																						ENST00000379480.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14						c.(721-723)cgA>cgG		mitochondrial translational release factor 1							67.0	62.0	63.0					13																	41814544		2203	4300	6503	SO:0001819	synonymous_variant	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41814544T>C	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.723A>G	13.37:g.41814544T>C						MTRF1_ENST00000430347.2_Silent_p.R254R|MTRF1_ENST00000379477.1_Silent_p.R241R	p.R241R	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	6	823	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	241					B4DG01|Q5T6Y5|Q8IUQ6	Silent	SNP	ENST00000379480.4	37	c.723A>G	CCDS9378.1																																																																																				0.483	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		12	26	0	0	0	1	0	12	26				
SLC22A7	10864	broad.mit.edu	37	6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTGTCGGTGCGCTACGCAGG	0.637																																						ENST00000372585.5																			1	Substitution - Missense(1)	p.R398C(1)	prostate(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1192-1194)Cgc>Tgc		solute carrier family 22 (organic anion transporter), member 7							85.0	70.0	75.0					6																	43270068		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43270068C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1192C>T	6.37:g.43270068C>T	ENSP00000361666:p.Arg398Cys					SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C	p.R398C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1287	+			398					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1192C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262101	0.59431	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.65916	-0.18;-0.18;-0.18;0.23	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343274	0.31859	N	0.006947	T	0.74749	0.3757	M	0.86178	2.8	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.975;0.975	T	0.78219	-0.2289	10	0.56958	D	0.05	.	11.5165	0.50524	0.1789:0.8211:0.0:0.0	.	398;396;396	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	C	396;398;396;91	ENSP00000361670:R396C;ENSP00000361666:R398C;ENSP00000361655:R396C;ENSP00000393836:R91C	ENSP00000361655:R396C	R	+	1	0	SLC22A7	43378046	1.000000	0.71417	0.839000	0.33178	0.639000	0.38242	2.351000	0.44071	2.468000	0.83385	0.462000	0.41574	CGC		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			6	19	0	0	0	1	0	6	19				
RTTN	25914	broad.mit.edu	37	18	67812937	67812937	+	Missense_Mutation	SNP	C	C	T	rs143585515		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67812937C>T	ENST00000255674.6	-	18	2678	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	RTTN_ENST00000454359.1_Missense_Mutation_p.A798T|RTTN_ENST00000437017.1_Missense_Mutation_p.A798T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	798					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAACTCTGGCGTCTATTAGA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15846	0.0		0.0	False		,,,				2504	0.0					ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2392-2394)Gcc>Acc		rotatin							115.0	108.0	110.0					18																	67812937		1840	4084	5924	SO:0001583	missense	25914						binding	g.chr18:67812937C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2392G>A	18.37:g.67812937C>T	ENSP00000255674:p.Ala798Thr					RTTN_ENST00000454359.1_Missense_Mutation_p.A798T|RTTN_ENST00000437017.1_Missense_Mutation_p.A798T	p.A798T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			18	2678	-		Esophageal squamous(42;0.129)	798					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.2392G>A	CCDS42443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.05	2.717936	0.48622	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64803	0.67;-0.12;-0.07	5.13	4.26	0.50523	Armadillo-type fold (1);	0.303448	0.31734	N	0.007142	T	0.61085	0.2319	L	0.57536	1.79	0.27960	N	0.936798	D	0.63880	0.993	P	0.47941	0.562	T	0.56013	-0.8049	10	0.20046	T	0.44	.	12.4286	0.55561	0.1687:0.8313:0.0:0.0	.	798	Q86VV8	RTTN_HUMAN	T	798	ENSP00000255674:A798T;ENSP00000402352:A798T;ENSP00000399520:A798T	ENSP00000255674:A798T	A	-	1	0	RTTN	65963917	0.982000	0.34865	0.791000	0.31998	0.340000	0.28889	1.193000	0.32162	1.172000	0.42781	-0.189000	0.12847	GCC		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		32	52	0	0	0	1	0	32	52				
WDR3	10885	broad.mit.edu	37	1	118501575	118501575	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118501575A>G	ENST00000349139.5	+	26	2672	c.2625A>G	c.(2623-2625)ccA>ccG	p.P875P	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	875						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGCTTGTGCCAGTGATAGAAA	0.388																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(2623-2625)ccA>ccG		WD repeat domain 3							84.0	84.0	84.0					1																	118501575		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118501575A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2625A>G	1.37:g.118501575A>G						SPAG17_ENST00000336338.5_Intron	p.P875P	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	26	2672	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	875						Silent	SNP	ENST00000349139.5	37	c.2625A>G	CCDS898.1																																																																																				0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		26	43	0	0	0	1	0	26	43				
GABRG2	2566	broad.mit.edu	37	5	161569262	161569262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161569262G>A	ENST00000361925.4	+	7	1082	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	GABRG2_ENST00000356592.3_Missense_Mutation_p.V288I|GABRG2_ENST00000414552.2_Missense_Mutation_p.V328I|GABRG2_ENST00000393933.4_Missense_Mutation_p.V193I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	288					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTCATTGTCGTCCTATCCTG	0.433																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(862-864)Gtc>Atc		gamma-aminobutyric acid (GABA) A receptor, gamma 2							265.0	222.0	237.0					5																	161569262		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161569262G>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.862G>A	5.37:g.161569262G>A	ENSP00000354651:p.Val288Ile					GABRG2_ENST00000414552.2_Missense_Mutation_p.V328I|GABRG2_ENST00000361925.4_Missense_Mutation_p.V288I|GABRG2_ENST00000393933.4_Missense_Mutation_p.V193I	p.V288I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	7	1322	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	288					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.862G>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400448	0.42613	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.75	4.89	0.63831	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	L	0.28740	0.885	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.993	D;P;P	0.71414	0.973;0.835;0.815	T	0.80645	-0.1290	10	0.02654	T	1	.	14.7343	0.69404	0.0694:0.0:0.9306:0.0	.	328;288;288	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	I	288;328;288;193;193	ENSP00000349000:V288I;ENSP00000410732:V328I;ENSP00000354651:V288I;ENSP00000377510:V193I;ENSP00000430182:V193I	ENSP00000349000:V288I	V	+	1	0	GABRG2	161501840	1.000000	0.71417	0.805000	0.32314	0.993000	0.82548	7.949000	0.87791	1.444000	0.47605	0.655000	0.94253	GTC		0.433	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			51	91	0	0	0	1	0	51	91				
GARS	2617	broad.mit.edu	37	7	30673355	30673355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30673355C>A	ENST00000389266.3	+	17	2340	c.2099C>A	c.(2098-2100)tCt>tAt	p.S700Y		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	700					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTCTAGATCTCTGAGCTGCCC	0.458																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(2098-2100)tCt>tAt		glycyl-tRNA synthetase	Glycine(DB00145)						115.0	103.0	107.0					7																	30673355		1900	4121	6021	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30673355C>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.2099C>A	7.37:g.30673355C>A	ENSP00000373918:p.Ser700Tyr						p.S700Y	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			17	2340	+			700					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.2099C>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480314	0.44044	.	.	ENSG00000106105	ENST00000389266	D	0.86865	-2.18	5.13	5.13	0.70059	Anticodon-binding (3);	0.149323	0.64402	D	0.000008	D	0.92903	0.7742	M	0.88570	2.965	0.58432	D	0.999998	P	0.49447	0.924	P	0.54346	0.749	D	0.94067	0.7332	10	0.72032	D	0.01	-16.8979	16.5244	0.84327	0.0:1.0:0.0:0.0	.	700	P41250	SYG_HUMAN	Y	700	ENSP00000373918:S700Y	ENSP00000373918:S700Y	S	+	2	0	GARS	30639880	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	2.847000	0.48270	2.556000	0.86216	0.650000	0.86243	TCT		0.458	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		40	80	1	0	2.87052e-16	1	3.7018e-16	40	80				
FAM3B	54097	broad.mit.edu	37	21	42729091	42729091	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42729091G>A	ENST00000357985.2	+	8	821	c.675G>A	c.(673-675)caG>caA	p.Q225Q	FAM3B_ENST00000398647.3_Silent_p.Q177Q|FAM3B_ENST00000398646.3_Silent_p.Q248Q|FAM3B_ENST00000398652.3_Silent_p.Q264Q|FAM3B_ENST00000479810.2_3'UTR	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	225					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGAGATCCAGATAGAAGGCT	0.398																																						ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(790-792)caG>caA		family with sequence similarity 3, member B							113.0	118.0	117.0					21																	42729091		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42729091G>A	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.675G>A	21.37:g.42729091G>A						FAM3B_ENST00000398647.3_Silent_p.Q177Q|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Silent_p.Q225Q|FAM3B_ENST00000398646.3_Silent_p.Q248Q	p.Q264Q			P58499	FAM3B_HUMAN			9	858	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	225						Silent	SNP	ENST00000357985.2	37	c.792G>A	CCDS13671.1																																																																																				0.398	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		42	85	0	0	0	1	0	42	85				
RASGRF1	5923	broad.mit.edu	37	15	79324528	79324528	+	Silent	SNP	G	G	A	rs535504050		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79324528G>A	ENST00000419573.3	-	7	1363	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y363Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	363	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTTGGCCTCGTAGTGCTTCA	0.602																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1087-1089)taC>taT		Ras protein-specific guanine nucleotide-releasing factor 1							184.0	109.0	135.0					15																	79324528		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79324528G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1089C>T	15.37:g.79324528G>A						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y363Y	p.Y363Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			7	1363	-			363			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1089C>T	CCDS10309.1																																																																																				0.602	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		8	16	0	0	0	1	0	8	16				
WDR7	23335	broad.mit.edu	37	18	54629713	54629713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54629713C>T	ENST00000254442.3	+	26	4328	c.4117C>T	c.(4117-4119)Cgc>Tgc	p.R1373C	WDR7_ENST00000357574.3_Missense_Mutation_p.R1340C|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1373					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGTTGGAGCTCGCCATGGTTC	0.423																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(4117-4119)Cgc>Tgc		WD repeat domain 7							98.0	90.0	92.0					18																	54629713		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54629713C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4117C>T	18.37:g.54629713C>T	ENSP00000254442:p.Arg1373Cys					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1340C	p.R1373C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	26	4328	+			1373					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.4117C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821401	0.90873	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.63913	-0.07;-0.07	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.74842	-0.3527	10	0.38643	T	0.18	.	19.415	0.94690	0.0:1.0:0.0:0.0	.	1340;1373	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	C	1373;1340;698;1340	ENSP00000254442:R1373C;ENSP00000350187:R1340C	ENSP00000254442:R1373C	R	+	1	0	WDR7	52780711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.302000	0.78861	2.677000	0.91161	0.655000	0.94253	CGC		0.423	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			19	24	0	0	0	1	0	19	24				
PRRG2	5639	broad.mit.edu	37	19	50086827	50086827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50086827G>T	ENST00000246794.5	+	3	283	c.114G>T	c.(112-114)caG>caT	p.Q38H	PRRG2_ENST00000596700.1_Intron|NOSIP_ENST00000596358.1_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	38						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAGAGGCCCAGAGCTTCCTGA	0.577																																						ENST00000246794.5																			0				lung(1)|skin(1)|soft_tissue(1)	3						c.(112-114)caG>caT		proline rich Gla (G-carboxyglutamic acid) 2							79.0	92.0	88.0					19																	50086827		2203	4300	6503	SO:0001583	missense	5639					extracellular region|integral to plasma membrane	calcium ion binding	g.chr19:50086827G>T		CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.114G>T	19.37:g.50086827G>T	ENSP00000246794:p.Gln38His					PRRG2_ENST00000596700.1_Intron	p.Q38H	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)	3	283	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	38					Q6IBF8	Missense_Mutation	SNP	ENST00000246794.5	37	c.114G>T	CCDS12773.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852077	0.51270	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.97114	-4.25	5.87	4.78	0.61160	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.507330	0.21106	N	0.080065	D	0.95456	0.8524	M	0.72118	2.19	0.28312	N	0.922617	B;B	0.11235	0.004;0.003	B;B	0.14023	0.01;0.005	D	0.89161	0.3530	10	0.34782	T	0.22	-13.818	11.5343	0.50628	0.0:0.0:0.8218:0.1782	.	15;38	F5GZ13;O14669	.;TMG2_HUMAN	H	38;15	ENSP00000246794:Q38H	ENSP00000246794:Q38H	Q	+	3	2	PRRG2	54778639	0.827000	0.29292	0.983000	0.44433	0.980000	0.70556	0.728000	0.26013	2.808000	0.96608	0.650000	0.86243	CAG		0.577	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1	NM_000951		38	118	1	0	8.69298e-16	1	1.1177e-15	38	118				
ADCY10	55811	broad.mit.edu	37	1	167847744	167847744	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167847744A>C	ENST00000367851.4	-	12	1530	c.1346T>G	c.(1345-1347)gTt>gGt	p.V449G	ADCY10_ENST00000545172.1_Missense_Mutation_p.V296G|ADCY10_ENST00000367848.1_Missense_Mutation_p.V357G	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	449					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTTTCATAACTTTCTTTGG	0.408																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1069-1071)gTt>gGt		adenylate cyclase 10 (soluble)							105.0	104.0	104.0					1																	167847744		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167847744A>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1346T>G	1.37:g.167847744A>C	ENSP00000356825:p.Val449Gly					ADCY10_ENST00000367851.4_Missense_Mutation_p.V449G|ADCY10_ENST00000545172.1_Missense_Mutation_p.V296G	p.V357G			Q96PN6	ADCYA_HUMAN			12	1567	-			449			Guanylate cyclase 2.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1070T>G	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626977	0.28978	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30981	1.51;1.52;1.52	5.38	1.12	0.20585	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.983418	0.08304	N	0.966495	T	0.08891	0.0220	L	0.54323	1.7	0.33974	D	0.647113	P;P;P	0.42409	0.779;0.61;0.475	B;B;B	0.35971	0.215;0.215;0.107	T	0.23261	-1.0193	9	0.21540	T	0.41	-4.5098	3.8612	0.08996	0.5036:0.0:0.0945:0.4019	.	296;357;449	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	G	296;449;357	ENSP00000441992:V296G;ENSP00000356825:V449G;ENSP00000356822:V357G	ENSP00000356822:V357G	V	-	2	0	ADCY10	166114368	0.099000	0.21834	0.777000	0.31699	0.987000	0.75469	0.813000	0.27225	0.420000	0.25954	0.533000	0.62120	GTT		0.408	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		42	56	0	0	0	1	0	42	56				
SORL1	6653	broad.mit.edu	37	11	121461726	121461726	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121461726C>A	ENST00000260197.7	+	31	4359	c.4230C>A	c.(4228-4230)ccC>ccA	p.P1410P	SORL1_ENST00000532694.1_Silent_p.P256P|SORL1_ENST00000527934.1_Silent_p.P25P|SORL1_ENST00000534286.1_Silent_p.P320P|SORL1_ENST00000525532.1_Silent_p.P354P	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1410					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATATTCTTCCCTTCTCGACTC	0.512											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4228-4230)ccC>ccA		sortilin-related receptor, L(DLR class) A repeats containing							269.0	269.0	269.0					11																	121461726		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121461726C>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4230C>A	11.37:g.121461726C>A			OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1511	SORL1_ENST00000534286.1_Silent_p.P320P|SORL1_ENST00000527934.1_Silent_p.P25P|SORL1_ENST00000525532.1_Silent_p.P354P|SORL1_ENST00000532694.1_Silent_p.P256P	p.P1410P	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	31	4359	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1410					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.4230C>A	CCDS8436.1																																																																																				0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		12	252	1	0	2.27111e-07	1	2.66951e-07	12	252				
ZNF235	9310	broad.mit.edu	37	19	44803800	44803800	+	Missense_Mutation	SNP	C	C	T	rs546568547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44803800C>T	ENST00000291182.4	-	3	203	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF235_ENST00000589799.1_Missense_Mutation_p.R34Q|ZNF235_ENST00000589248.1_Missense_Mutation_p.R34Q	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATCACATCTCGGTACAGCTT	0.527																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(100-102)cGa>cAa		zinc finger protein 235							213.0	192.0	199.0					19																	44803800		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44803800C>T	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.101G>A	19.37:g.44803800C>T	ENSP00000291182:p.Arg34Gln					ZNF235_ENST00000589248.1_Missense_Mutation_p.R34Q|ZNF235_ENST00000589799.1_Missense_Mutation_p.R34Q	p.R34Q	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			3	203	-		Prostate(69;0.0352)|all_neural(266;0.116)	34			KRAB.		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.101G>A	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359534	0.61403	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182	T	0.02579	4.24	3.74	3.74	0.42951	Krueppel-associated box (4);	0.431461	0.14501	N	0.315725	T	0.05547	0.0146	L	0.39898	1.24	0.29339	N	0.866122	P;P;P	0.50943	0.94;0.846;0.753	P;B;B	0.49226	0.603;0.29;0.413	T	0.16689	-1.0394	10	0.46703	T	0.11	.	13.3909	0.60823	0.0:1.0:0.0:0.0	.	34;34;34	Q3KRA4;Q14590-2;Q14590	.;.;ZN235_HUMAN	Q	34	ENSP00000291182:R34Q	ENSP00000291182:R34Q	R	-	2	0	ZNF235	49495640	0.833000	0.29383	0.988000	0.46212	0.994000	0.84299	1.323000	0.33701	2.058000	0.61347	0.655000	0.94253	CGA		0.527	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			51	81	0	0	0	1	0	51	81				
TBPL1	9519	broad.mit.edu	37	6	134301387	134301387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134301387C>T	ENST00000237264.4	+	2	399	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	TBPL1_ENST00000367871.1_Missense_Mutation_p.R42C	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	42					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AATTTATAAACGTGATGTTGG	0.289																																						ENST00000237264.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6						c.(124-126)Cgt>Tgt		TBP-like 1							188.0	185.0	186.0					6																	134301387		2203	4300	6503	SO:0001583	missense	9519				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity	g.chr6:134301387C>T	AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.124C>T	6.37:g.134301387C>T	ENSP00000237264:p.Arg42Cys					TBPL1_ENST00000367871.1_Missense_Mutation_p.R42C	p.R42C	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN		GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)	2	399	+	Colorectal(23;0.221)|Breast(56;0.247)		42					A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	ENST00000237264.4	37	c.124C>T	CCDS5168.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855235	0.91355	.	.	ENSG00000028839	ENST00000416965;ENST00000457715;ENST00000367871;ENST00000237264;ENST00000367869	.	.	.	5.9	5.9	0.94986	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.095638	0.85682	D	0.000000	T	0.81143	0.4761	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.82438	-0.0457	9	0.87932	D	0	-12.1255	19.2586	0.93957	0.0:1.0:0.0:0.0	.	42	P62380	TBPL1_HUMAN	C	42	.	ENSP00000237264:R42C	R	+	1	0	TBPL1	134343080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.364000	0.79526	2.793000	0.96121	0.591000	0.81541	CGT		0.289	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042294.2			30	70	0	0	0	1	0	30	70				
KIAA1161	57462	broad.mit.edu	37	9	34372131	34372131	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372131C>T	ENST00000297625.7	-	2	934	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	271					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCGCGGCCGGCGGGTGGCTTG	0.642																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(709-711)Gcc>Acc		KIAA1161							18.0	22.0	21.0					9																	34372131		2092	4217	6309	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372131C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.709G>A	9.37:g.34372131C>T	ENSP00000297625:p.Ala237Thr						p.A237T	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	934	-			271					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.709G>A		.	.	.	.	.	.	.	.	.	.	C	3.318	-0.139430	0.06669	.	.	ENSG00000164976	ENST00000297625;ENST00000379142	T;T	0.70869	-0.52;-0.52	6.08	3.2	0.36748	.	0.623617	0.16569	N	0.208729	T	0.49338	0.1551	N	0.24115	0.695	0.09310	N	1	B	0.25955	0.138	B	0.13407	0.009	T	0.25847	-1.0120	10	0.13108	T	0.6	-0.8366	7.441	0.27183	0.0:0.4886:0.3643:0.147	.	271	Q6NSJ0	K1161_HUMAN	T	237;139	ENSP00000297625:A237T;ENSP00000368437:A139T	ENSP00000297625:A237T	A	-	1	0	KIAA1161	34362131	0.000000	0.05858	0.010000	0.14722	0.021000	0.10359	-0.212000	0.09319	0.426000	0.26116	0.655000	0.94253	GCC		0.642	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		3	17	0	0	0	1	0	3	17				
DNAH1	25981	broad.mit.edu	37	3	52387488	52387488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52387488C>T	ENST00000420323.2	+	20	3580	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1107	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTGGCATGCGGATCCGGCA	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3319-3321)Cgg>Tgg		dynein, axonemal, heavy chain 1							49.0	55.0	53.0					3																	52387488		2099	4225	6324	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52387488C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3319C>T	3.37:g.52387488C>T	ENSP00000401514:p.Arg1107Trp						p.R1107W	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	3580	+			1107			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3319C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824501	0.71143	.	.	ENSG00000114841	ENST00000420323	T	0.63580	-0.05	5.79	3.96	0.45880	.	0.135863	0.33813	N	0.004531	D	0.84488	0.5483	H	0.96662	3.86	0.43296	D	0.995288	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.86996	0.2113	10	0.87932	D	0	.	11.0168	0.47693	0.4658:0.4204:0.1138:0.0	.	1107;1107	C9JXH6;Q9P2D7-3	.;.	W	1107	ENSP00000401514:R1107W	ENSP00000401514:R1107W	R	+	1	2	DNAH1	52362528	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	2.091000	0.41691	0.756000	0.33013	0.655000	0.94253	CGG		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		10	34	0	0	0	1	0	10	34				
SYNE2	23224	broad.mit.edu	37	14	64453335	64453335	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64453335G>T	ENST00000344113.4	+	19	2525	c.2313G>T	c.(2311-2313)aaG>aaT	p.K771N	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Splice_Site_p.K771N|SYNE2_ENST00000554584.1_Splice_Site_p.K771N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	771					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCTTTGAAGGTATGTGTGT	0.343																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.e19+1		spectrin repeat containing, nuclear envelope 2							114.0	107.0	109.0					14																	64453335		1860	4094	5954	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64453335G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2313+1G>T	14.37:g.64453335G>T						SYNE2_ENST00000344113.4_Splice_Site_p.K771_splice|SYNE2_ENST00000554584.1_Splice_Site_p.K771_splice|SYNE2_ENST00000357395.3_5'UTR	p.K771_splice	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	19	2543	+			771					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	c.2313_splice	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690610	0.29962	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57752	0.75;0.75;0.38	5.67	5.67	0.87782	.	0.272597	0.26352	N	0.024880	T	0.36331	0.0963	N	0.08118	0	0.80722	D	1	B;B	0.24721	0.067;0.11	B;B	0.24848	0.025;0.056	T	0.22312	-1.0220	10	0.48119	T	0.1	.	16.505	0.84270	0.0:0.0:1.0:0.0	.	771;771	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	771	ENSP00000350719:K771N;ENSP00000341781:K771N;ENSP00000452570:K771N	ENSP00000261678:K771N	K	+	3	2	SYNE2	63523088	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	5.483000	0.66838	2.672000	0.90937	0.563000	0.77884	AAG		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Missense_Mutation	35	61	1	0	2.42023e-17	1	3.13592e-17	35	61				
CYTH2	9266	broad.mit.edu	37	19	48981590	48981590	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48981590A>G	ENST00000452733.2	+	10	1420	c.944A>G	c.(943-945)gAc>gGc	p.D315G	CYTH2_ENST00000427476.1_Missense_Mutation_p.D316G|CTC-273B12.8_ENST00000599877.1_lincRNA			Q99418	CYH2_HUMAN	cytohesin 2	316	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAGGTGGACGACCCCCGGAAA	0.607																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(946-948)gAc>gGc		cytohesin 2							71.0	74.0	73.0					19																	48981590		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48981590A>G	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.944A>G	19.37:g.48981590A>G	ENSP00000408236:p.Asp315Gly					CYTH2_ENST00000452733.2_Missense_Mutation_p.D315G	p.D316G	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			10	1247	+			316			PH.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.947A>G	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836751	0.71373	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.76186	2.21;-1.0	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	M	0.90542	3.125	0.80722	D	1	D	0.53312	0.959	D	0.67548	0.952	D	0.89503	0.3765	10	0.87932	D	0	.	12.3048	0.54895	1.0:0.0:0.0:0.0	.	315	Q99418-2	.	G	315;316	ENSP00000408236:D315G;ENSP00000391648:D316G	ENSP00000391648:D316G	D	+	2	0	CYTH2	53673402	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	5.162000	0.64942	2.064000	0.61679	0.533000	0.62120	GAC		0.607	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		23	42	0	0	0	1	0	23	42				
PGBD5	79605	broad.mit.edu	37	1	230492774	230492774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230492774C>T	ENST00000525115.1	-	2	441	c.418G>A	c.(418-420)Gag>Aag	p.E140K	PGBD5_ENST00000391860.1_Missense_Mutation_p.E94K|PGBD5_ENST00000321327.2_Missense_Mutation_p.E239K			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	140						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGATCTTCTCGAAGCGGGCC	0.627																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(715-717)Gag>Aag		piggyBac transposable element derived 5							85.0	75.0	78.0					1																	230492774		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230492774C>T	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.418G>A	1.37:g.230492774C>T	ENSP00000431404:p.Glu140Lys					PGBD5_ENST00000525115.1_Missense_Mutation_p.E140K|PGBD5_ENST00000391860.1_Missense_Mutation_p.E94K	p.E239K			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	4	714	-	Breast(184;0.0397)	Prostate(94;0.167)	140					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.715G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.229153	0.95173	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18174	2.23;2.23;2.23	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01743	-1.1283	10	0.10636	T	0.68	-54.5913	20.5568	0.99304	0.0:1.0:0.0:0.0	.	140	Q8N414	PGBD5_HUMAN	K	94;239;140	ENSP00000375733:E94K;ENSP00000322530:E239K;ENSP00000431404:E140K	ENSP00000322530:E239K	E	-	1	0	PGBD5	228559397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.802000	0.85969	2.861000	0.98227	0.655000	0.94253	GAG		0.627	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		28	28	0	0	0	1	0	28	28				
CLNK	116449	broad.mit.edu	37	4	10566361	10566361	+	Silent	SNP	C	C	T	rs368333254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10566361C>T	ENST00000226951.6	-	7	572	c.333G>A	c.(331-333)ccG>ccA	p.P111P	CLNK_ENST00000442825.2_Silent_p.P69P|CLNK_ENST00000507719.1_Silent_p.P69P	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	111					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGTGTCTAACGGAAGGGGAG	0.433																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(331-333)ccG>ccA		cytokine-dependent hematopoietic cell linker							205.0	193.0	197.0					4																	10566361		1977	4146	6123	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10566361C>T	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.333G>A	4.37:g.10566361C>T						CLNK_ENST00000507719.1_Silent_p.P69P|CLNK_ENST00000442825.2_Silent_p.P69P	p.P111P	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			7	572	-			111					Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.333G>A	CCDS47024.1																																																																																				0.433	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		15	23	0	0	0	1	0	15	23				
ZNF609	23060	broad.mit.edu	37	15	64967929	64967929	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64967929C>T	ENST00000326648.3	+	4	3004	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	959						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCCCTCGGTCATCCAG	0.507																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2875-2877)tCg>tTg		zinc finger protein 609							162.0	162.0	162.0					15																	64967929		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967929C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2876C>T	15.37:g.64967929C>T	ENSP00000316527:p.Ser959Leu						p.S959L	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	3004	+			959					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2876C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890697	0.72524	.	.	ENSG00000180357	ENST00000326648	T	0.50001	0.76	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.60037	-0.7341	10	0.39692	T	0.17	-12.6278	20.1008	0.97874	0.0:1.0:0.0:0.0	.	959	O15014	ZN609_HUMAN	L	959	ENSP00000316527:S959L	ENSP00000316527:S959L	S	+	2	0	ZNF609	62754982	1.000000	0.71417	0.934000	0.37439	0.786000	0.44442	6.072000	0.71238	2.756000	0.94617	0.563000	0.77884	TCG		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		11	101	0	0	0	1	0	11	101				
RALGAPA2	57186	broad.mit.edu	37	20	20661389	20661389	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20661389A>G	ENST00000202677.7	-	2	170	c.163T>C	c.(163-165)Tat>Cat	p.Y55H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	55					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAGATGAAATATATCTGAGAA	0.259																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(163-165)Tat>Cat		Ral GTPase activating protein, alpha subunit 2 (catalytic)							34.0	33.0	33.0					20																	20661389		1781	4045	5826	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20661389A>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.163T>C	20.37:g.20661389A>G	ENSP00000202677:p.Tyr55His						p.Y55H	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			2	305	-			55					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.163T>C	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240431	0.79912	.	.	ENSG00000188559	ENST00000202677;ENST00000438161	T;T	0.63096	-0.02;-0.02	4.72	4.72	0.59763	.	0.093687	0.44285	U	0.000474	T	0.78349	0.4269	M	0.82517	2.595	0.47374	D	0.999405	D	0.69078	0.997	D	0.65233	0.933	T	0.82303	-0.0524	10	0.87932	D	0	.	13.3178	0.60417	1.0:0.0:0.0:0.0	.	55	Q2PPJ7	RGPA2_HUMAN	H	55	ENSP00000202677:Y55H;ENSP00000412795:Y55H	ENSP00000202677:Y55H	Y	-	1	0	RALGAPA2	20609389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.715000	0.84713	1.995000	0.58328	0.379000	0.24179	TAT		0.259	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	7	0	0	0	1	0	3	7				
CDC45	8318	broad.mit.edu	37	22	19470274	19470274	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19470274C>A	ENST00000407835.1	+	5	522	c.266C>A	c.(265-267)cCt>cAt	p.P89H	CDC45_ENST00000404724.3_Intron|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.P89H|CDC45_ENST00000437685.2_Missense_Mutation_p.P89H			O75419	CDC45_HUMAN	cell division cycle 45	89					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATTCTTCAACCTGATGAAGAC	0.363																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(265-267)cCt>cAt		cell division cycle 45							245.0	219.0	228.0					22																	19470274		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19470274C>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.266C>A	22.37:g.19470274C>A	ENSP00000385240:p.Pro89His					CDC45_ENST00000404724.3_Intron|CDC45_ENST00000437685.2_Missense_Mutation_p.P89H|CDC45_ENST00000263201.1_Missense_Mutation_p.P89H|CDC45_ENST00000483431.1_3'UTR	p.P89H			O75419	CDC45_HUMAN			5	522	+			89					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.266C>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867160	0.91511	.	.	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000455750;ENST00000437685;ENST00000263201	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.52	5.52	0.82312	.	0.101012	0.64402	D	0.000001	T	0.59622	0.2207	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.989;0.986	T	0.66324	-0.5952	10	0.87932	D	0	-17.5625	19.4222	0.94726	0.0:1.0:0.0:0.0	.	89;84;89;89	E9PDH7;B4E092;B4DDU3;O75419	.;.;.;CDC45_HUMAN	H	89;77;89;89;89	ENSP00000385240:P89H;ENSP00000397434:P77H;ENSP00000413138:P89H;ENSP00000405726:P89H;ENSP00000263201:P89H	ENSP00000263201:P89H	P	+	2	0	CDC45	17850274	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	7.441000	0.80485	2.580000	0.87095	0.591000	0.81541	CCT		0.363	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		20	161	1	0	1.01871e-10	1	1.25892e-10	20	161				
NDST4	64579	broad.mit.edu	37	4	115997817	115997817	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:115997817C>A	ENST00000264363.2	-	2	1054	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	126	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTATATTTCCCTTTGCCATTA	0.373																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(376-378)Ggg>Tgg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							62.0	68.0	66.0					4																	115997817		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997817C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.376G>T	4.37:g.115997817C>A	ENSP00000264363:p.Gly126Trp						p.G126W	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1054	-		Ovarian(17;0.156)	126			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.376G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959284	0.74016	.	.	ENSG00000138653	ENST00000264363	T	0.51574	0.7	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82847	-0.0255	10	0.87932	D	0	.	18.4091	0.90545	0.0:1.0:0.0:0.0	.	126	Q9H3R1	NDST4_HUMAN	W	126	ENSP00000264363:G126W	ENSP00000264363:G126W	G	-	1	0	NDST4	116217266	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.767000	0.85331	2.325000	0.78763	0.591000	0.81541	GGG		0.373	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		7	55	1	0	2.0095e-06	1	2.31757e-06	7	55				
EYS	346007	broad.mit.edu	37	6	66063498	66063498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:66063498G>T	ENST00000370621.3	-	9	1838	c.1312C>A	c.(1312-1314)Cca>Aca	p.P438T	EYS_ENST00000503581.1_Missense_Mutation_p.P438T|EYS_ENST00000370616.2_Missense_Mutation_p.P438T|EYS_ENST00000342421.5_Missense_Mutation_p.P438T|EYS_ENST00000370618.3_Missense_Mutation_p.P438T|EYS_ENST00000393380.2_Missense_Mutation_p.P438T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	438					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCACCCTGGAATGCATACA	0.313																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1312-1314)Cca>Aca		eyes shut homolog (Drosophila)							95.0	86.0	89.0					6																	66063498		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063498G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1312C>A	6.37:g.66063498G>T	ENSP00000359655:p.Pro438Thr					EYS_ENST00000370621.3_Missense_Mutation_p.P438T|EYS_ENST00000370616.2_Missense_Mutation_p.P438T|EYS_ENST00000370618.3_Missense_Mutation_p.P438T|EYS_ENST00000342421.5_Missense_Mutation_p.P438T|EYS_ENST00000393380.2_Missense_Mutation_p.P438T	p.P438T	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			9	1849	-			438					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1312C>A		.	.	.	.	.	.	.	.	.	.	g	11.44	1.638755	0.29157	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	4.23	-9.42E-4	0.14036	.	.	.	.	.	T	0.06096	0.0158	L	0.50993	1.605	0.09310	N	1	B;B;B	0.30634	0.137;0.288;0.19	B;B;B	0.30029	0.102;0.102;0.11	T	0.35051	-0.9804	9	0.48119	T	0.1	.	4.2009	0.10466	0.3311:0.1669:0.502:0.0	.	438;438;438	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	T	438	ENSP00000424243:P438T;ENSP00000359655:P438T;ENSP00000359650:P438T;ENSP00000377042:P438T;ENSP00000341818:P438T;ENSP00000359652:P438T	ENSP00000341818:P438T	P	-	1	0	EYS	66120219	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.126000	0.15769	-0.394000	0.07727	-0.226000	0.12346	CCA		0.313	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		4	61	1	0	1.23904e-05	1	1.39987e-05	4	61				
SMARCAD1	56916	broad.mit.edu	37	4	95173878	95173878	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95173878T>C	ENST00000354268.4	+	9	1074	c.1001T>C	c.(1000-1002)aTg>aCg	p.M334T	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.M334T|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	334					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAATTTTCAATGAAAGCACAA	0.308																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1000-1002)aTg>aCg		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							35.0	35.0	35.0					4																	95173878		2203	4298	6501	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95173878T>C	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1001T>C	4.37:g.95173878T>C	ENSP00000346217:p.Met334Thr					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.M334T	p.M334T			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	9	1074	+			334					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1001T>C	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.389878	0.01185	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.86865	-2.18;-2.18;-2.18	5.58	4.33	0.51752	.	0.540033	0.16796	N	0.199179	T	0.64886	0.2639	N	0.03608	-0.345	0.35794	D	0.8226	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61946	-0.6958	10	0.13470	T	0.59	-3.2055	1.6917	0.02853	0.2495:0.0814:0.1555:0.5136	.	334;334	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	T	334	ENSP00000351947:M334T;ENSP00000415576:M334T;ENSP00000346217:M334T	ENSP00000346217:M334T	M	+	2	0	SMARCAD1	95392901	0.249000	0.23941	0.998000	0.56505	0.993000	0.82548	0.531000	0.23052	2.126000	0.65437	0.533000	0.62120	ATG		0.308	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		6	16	0	0	0	1	0	6	16				
POLK	51426	broad.mit.edu	37	5	74889813	74889813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74889813G>A	ENST00000241436.4	+	12	1639	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	POLK_ENST00000352007.5_Intron|POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.K399K|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	489					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCATTGCTAAGGAATTGCTAA	0.323								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1465-1467)aaG>aaA	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							125.0	126.0	126.0					5																	74889813		2203	4300	6503	SO:0001819	synonymous_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74889813G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1467G>A	5.37:g.74889813G>A						POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.K399K|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Intron	p.K489K	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	12	1639	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	489					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Silent	SNP	ENST00000241436.4	37	c.1467G>A	CCDS4030.1																																																																																				0.323	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		4	106	0	0	0	1	0	4	106				
TRIM62	55223	broad.mit.edu	37	1	33646764	33646764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33646764C>T	ENST00000291416.5	-	1	503	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	90					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCAGGGTCGCGCGGCGCGGC	0.687																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(268-270)gcG>gcA		tripartite motif containing 62							23.0	18.0	20.0					1																	33646764		2193	4283	6476	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33646764C>T	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.270G>A	1.37:g.33646764C>T						TRIM62_ENST00000485148.1_5'UTR	p.A90A	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			1	503	-		Myeloproliferative disorder(586;0.0393)	90					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.270G>A	CCDS376.1																																																																																				0.687	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		4	5	0	0	0	1	0	4	5				
EPHA4	2043	broad.mit.edu	37	2	222347170	222347170	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222347170G>A	ENST00000281821.2	-	5	1261	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	EPHA4_ENST00000392071.4_Missense_Mutation_p.T356I|EPHA4_ENST00000409938.1_Missense_Mutation_p.T407I|EPHA4_ENST00000409854.1_Missense_Mutation_p.T407I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	407	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAATTGGTATGAGCTAG	0.507																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1219-1221)aCc>aTc		EPH receptor A4							274.0	275.0	275.0					2																	222347170		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222347170G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1220C>T	2.37:g.222347170G>A	ENSP00000281821:p.Thr407Ile					EPHA4_ENST00000392071.4_Missense_Mutation_p.T356I|EPHA4_ENST00000409854.1_Missense_Mutation_p.T407I|EPHA4_ENST00000409938.1_Missense_Mutation_p.T407I	p.T407I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	5	1261	-		Renal(207;0.0183)	407			Fibronectin type-III 1.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1220C>T	CCDS2447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.079796|5.079796	0.94050|0.94050	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000441679|ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	.|T;T;T;T;T	.|0.62788	.|-0.0;-0.0;-0.0;-0.0;-0.0	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83188|0.83188	0.5200|0.5200	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.76575	.|0.988	D|D	0.84011|0.84011	0.0348|0.0348	5|10	.|0.62326	.|D	.|0.03	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|407	.|P54764	.|EPHA4_HUMAN	S|I	144|407;407;407;356;111	.|ENSP00000281821:T407I;ENSP00000386276:T407I;ENSP00000386829:T407I;ENSP00000375923:T356I;ENSP00000395917:T111I	.|ENSP00000281821:T407I	P|T	-|-	1|2	0|0	EPHA4|EPHA4	222055414|222055414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.793000|9.793000	0.99091|0.99091	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.507	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			108	196	0	0	0	1	0	108	196				
DIO2	1734	broad.mit.edu	37	14	80677716	80677716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80677716G>A	ENST00000557010.1	-	3	485	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.L34F|DIO2_ENST00000422005.3_Missense_Mutation_p.L34F|DIO2_ENST00000555750.1_Missense_Mutation_p.L34F|DIO2-AS1_ENST00000553979.1_RNA	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	34					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.L34I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACGTGCTTGAGCAGAATGACC	0.562																																						ENST00000557010.1																			2	Substitution - Missense(2)	p.L34I(2)	lung(2)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(100-102)Ctc>Ttc		deiodinase, iodothyronine, type II							42.0	43.0	42.0					14																	80677716		2018	4174	6192	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677716G>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.100C>T	14.37:g.80677716G>A	ENSP00000451419:p.Leu34Phe					DIO2_ENST00000422005.3_Missense_Mutation_p.L34F|DIO2_ENST00000555750.1_Missense_Mutation_p.L34F|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.L34F	p.L34F	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	485	-			34					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.100C>T	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346871	0.61183	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000554188	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.7	5.7	0.88788	.	0.336851	0.24314	N	0.039618	T	0.51770	0.1694	L	0.56769	1.78	0.42091	D	0.991296	D;D;D;D	0.76494	0.996;0.984;0.999;0.999	P;P;D;D	0.71656	0.9;0.81;0.956;0.974	T	0.51212	-0.8734	10	0.72032	D	0.01	.	15.3374	0.74269	0.0:0.1391:0.8608:0.0	.	34;34;34;34	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	F	34	ENSP00000405854:L34F;ENSP00000451419:L34F;ENSP00000411438:L34F;ENSP00000450980:L34F;ENSP00000451136:L34F	ENSP00000373490:L34F	L	-	1	0	DIO2	79747469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.677000	0.46892	2.677000	0.91161	0.650000	0.86243	CTC		0.562	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			3	22	0	0	0	1	0	3	22				
GAL3ST1	9514	broad.mit.edu	37	22	30951066	30951066	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30951066G>A	ENST00000402321.1	-	3	1463	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GAL3ST1_ENST00000402369.1_Silent_p.I382I|GAL3ST1_ENST00000443111.2_Silent_p.I382I|GAL3ST1_ENST00000338911.5_Silent_p.I382I|GAL3ST1_ENST00000406955.1_Silent_p.I382I|GAL3ST1_ENST00000406361.1_Silent_p.I382I|GAL3ST1_ENST00000401975.1_Silent_p.I382I			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	382					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCGCTGCCCGATGCTCTTCT	0.672																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1144-1146)atC>atT		galactose-3-O-sulfotransferase 1							51.0	50.0	50.0					22																	30951066		2203	4299	6502	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951066G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1146C>T	22.37:g.30951066G>A						GAL3ST1_ENST00000402369.1_Silent_p.I382I|GAL3ST1_ENST00000406955.1_Silent_p.I382I|GAL3ST1_ENST00000338911.5_Silent_p.I382I|GAL3ST1_ENST00000406361.1_Silent_p.I382I|GAL3ST1_ENST00000443111.2_Silent_p.I382I|GAL3ST1_ENST00000401975.1_Silent_p.I382I	p.I382I			Q99999	G3ST1_HUMAN			3	1463	-			382					Q96C63	Silent	SNP	ENST00000402321.1	37	c.1146C>T	CCDS13879.1																																																																																				0.672	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		24	30	0	0	0	1	0	24	30				
YY1AP1	55249	broad.mit.edu	37	1	155649201	155649201	+	Splice_Site	SNP	G	G	A	rs546288068	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649201G>A	ENST00000295566.4	-	4	345	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000405763.3_Splice_Site_p.R180W|YY1AP1_ENST00000368340.5_Splice_Site_p.R180W|YY1AP1_ENST00000359205.5_Splice_Site_p.R31W|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Splice_Site_p.R42W|YY1AP1_ENST00000347088.5_Splice_Site_p.R42W|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000361831.5_Splice_Site_p.R31W|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Splice_Site_p.R180W|YY1AP1_ENST00000368330.2_Splice_Site_p.R42W|YY1AP1_ENST00000355499.4_Splice_Site_p.R42W|YY1AP1_ENST00000438245.2_Splice_Site_p.R42W|YY1AP1_ENST00000407221.1_Splice_Site_p.R31W|YY1AP1_ENST00000311573.5_Splice_Site_p.R31W	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	108					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTAGCCTACCGTAGAGCTTGA	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21727	0.0		0.0	False		,,,				2504	0.0					ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.e3+1		YY1 associated protein 1							108.0	90.0	96.0					1																	155649201		2203	4300	6503	SO:0001630	splice_region_variant	55249							g.chr1:155649201G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.323+1C>T	1.37:g.155649201G>A						YY1AP1_ENST00000368330.2_Splice_Site_p.R42_splice|YY1AP1_ENST00000295566.4_Splice_Site_p.R108_splice|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Splice_Site_p.R42_splice|YY1AP1_ENST00000438245.2_Splice_Site_p.R42_splice|YY1AP1_ENST00000405763.3_Splice_Site_p.R180_splice|YY1AP1_ENST00000361831.5_Splice_Site_p.R31_splice|YY1AP1_ENST00000368339.5_Splice_Site_p.R180_splice|YY1AP1_ENST00000347088.5_Splice_Site_p.R42_splice|YY1AP1_ENST00000359205.5_Splice_Site_p.R31_splice|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Splice_Site_p.R31_splice|YY1AP1_ENST00000407221.1_Splice_Site_p.R31_splice|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Splice_Site_p.R42_splice	p.R180_splice	NM_001198904.1	NP_001185833.1					3	646	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Splice_Site	SNP	ENST00000295566.4	37	c.539_splice	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	G	7.435	0.639427	0.14386	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.28069	1.65;1.65;1.7;1.65;1.65;1.66;1.67;1.65;1.7;1.69;1.63	3.18	2.21	0.28008	.	3.044690	0.03156	U	0.168628	T	0.39809	0.1092	M	0.64997	1.995	0.36146	D	0.847109	B;B;D;B;D;B;B	0.89917	0.049;0.057;1.0;0.37;0.999;0.438;0.171	B;B;P;B;D;B;B	0.69307	0.03;0.035;0.88;0.087;0.963;0.07;0.039	T	0.05716	-1.0868	10	0.87932	D	0	.	9.1178	0.36769	0.0:0.0:0.389:0.611	.	42;108;180;180;108;42;180	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	W	31;42;31;42;31;180;108;42;31;42;180;180;42;31;42	ENSP00000352134:R31W;ENSP00000347686:R42W;ENSP00000311138:R31W;ENSP00000316079:R42W;ENSP00000355298:R31W;ENSP00000357324:R180W;ENSP00000295566:R108W;ENSP00000357314:R42W;ENSP00000385791:R31W;ENSP00000385390:R42W;ENSP00000357323:R180W	ENSP00000295566:R108W	R	-	1	2	YY1AP1	153915825	0.358000	0.24947	0.845000	0.33349	0.258000	0.26162	0.459000	0.21908	0.464000	0.27142	0.305000	0.20034	CGG		0.453	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	Missense_Mutation	20	51	0	0	0	1	0	20	51				
RASL11B	65997	broad.mit.edu	37	4	53731770	53731770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53731770C>A	ENST00000248706.3	+	4	763	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATGAAGTGTCTGTCAGTGAA	0.498																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(544-546)tCt>tAt		RAS-like, family 11, member B							186.0	181.0	183.0					4																	53731770		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731770C>A	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.545C>A	4.37:g.53731770C>A	ENSP00000248706:p.Ser182Tyr					RASL11B_ENST00000505041.1_3'UTR	p.S182Y	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	763	+			182			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.545C>A	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217993	0.58560	.	.	ENSG00000128045	ENST00000248706	D	0.89343	-2.5	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.097596	0.64402	D	0.000001	D	0.96460	0.8845	H	0.97587	4.035	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97467	1.0038	10	0.87932	D	0	.	14.1868	0.65609	0.0:0.8506:0.1494:0.0	.	182	Q9BPW5	RSLBB_HUMAN	Y	182	ENSP00000248706:S182Y	ENSP00000248706:S182Y	S	+	2	0	RASL11B	53426527	1.000000	0.71417	0.990000	0.47175	0.404000	0.30871	5.693000	0.68264	2.596000	0.87737	0.655000	0.94253	TCT		0.498	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		9	203	1	0	0.00829132	1	0.00869385	9	203				
ACD	65057	broad.mit.edu	37	16	67691948	67691948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67691948G>A	ENST00000393919.4	-	10	1669	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.R466W|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	469					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AAAGGCGGCCGATTCTTGCAG	0.607																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1396-1398)Cgg>Tgg		adrenocortical dysplasia homolog (mouse)							48.0	54.0	52.0					16																	67691948		2198	4299	6497	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67691948G>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1405C>T	16.37:g.67691948G>A	ENSP00000377496:p.Arg469Trp					ACD_ENST00000393919.4_Missense_Mutation_p.R469W	p.R466W	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	10	1727	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	469					Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.1396C>T	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.332968	0.24167	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.35605	1.3;1.3	4.08	-2.53	0.06326	.	2.039750	0.02065	N	0.051067	T	0.19485	0.0468	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.19614	-1.0300	10	0.56958	D	0.05	1.0282	3.7146	0.08433	0.1238:0.1473:0.5799:0.149	.	469;466	Q96AP0;Q96AP0-2	ACD_HUMAN;.	W	466;469	ENSP00000219251:R466W;ENSP00000377496:R469W	ENSP00000219251:R466W	R	-	1	2	ACD	66249449	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.639000	0.24690	-0.592000	0.05851	-0.309000	0.09137	CGG		0.607	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		34	29	0	0	0	1	0	34	29				
ZNF324	25799	broad.mit.edu	37	19	58983150	58983150	+	Missense_Mutation	SNP	G	G	A	rs377390706		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983150G>A	ENST00000536459.2	+	4	2000	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.G431S|ZNF324_ENST00000535298.1_Missense_Mutation_p.G208S			O75467	Z324A_HUMAN	zinc finger protein 324	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCACAGTGCGGCCGCGCCTT	0.677																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1291-1293)Ggc>Agc		zinc finger protein 324		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	38.0	40.0	39.0		1291	3.8	1.0	19		39	0,8600		0,0,4300	no	missense	ZNF324	NM_014347.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	431/554	58983150	1,13005	2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983150G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1291G>A	19.37:g.58983150G>A	ENSP00000444812:p.Gly431Ser					ZNF324_ENST00000535298.1_Missense_Mutation_p.G208S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G431S	p.G431S			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2000	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	431					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1291G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792473	0.70452	2.27E-4	0.0	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.20463	2.07;2.07;3.21	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000680	T	0.33440	0.0863	L	0.31371	0.925	0.50313	D	0.999861	D	0.89917	1.0	D	0.97110	1.0	T	0.12553	-1.0543	10	0.87932	D	0	.	14.0557	0.64767	0.0:0.0:1.0:0.0	.	431	O75467	Z324A_HUMAN	S	431;431;421;208	ENSP00000196482:G431S;ENSP00000444812:G431S;ENSP00000439588:G208S	ENSP00000196482:G431S	G	+	1	0	ZNF324	63674962	1.000000	0.71417	0.998000	0.56505	0.200000	0.23975	7.112000	0.77086	2.433000	0.82419	0.400000	0.26472	GGC		0.677	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		11	33	0	0	0	1	0	11	33				
RAD50	10111	broad.mit.edu	37	5	131953826	131953826	+	Nonsense_Mutation	SNP	C	C	T	rs368980595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131953826C>T	ENST00000265335.6	+	21	3616	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	RAD50_ENST00000378823.3_Nonsense_Mutation_p.R938*			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1077					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCATTAGGGCGACAGAAAGG	0.318								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2812-2814)Cga>Tga	Homologous recombination	RAD50 homolog (S. cerevisiae)		C	stop/ARG	0,4406		0,0,2203	143.0	166.0	158.0		3229	5.4	1.0	5		158	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained	RAD50	NM_005732.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1077/1313	131953826	1,13003	2203	4299	6502	SO:0001587	stop_gained	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131953826C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3229C>T	5.37:g.131953826C>T	ENSP00000265335:p.Arg1077*					RAD50_ENST00000265335.6_Nonsense_Mutation_p.R1077*	p.R938*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3630	+		all_cancers(142;0.0368)|Breast(839;0.198)	1077					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Nonsense_Mutation	SNP	ENST00000265335.6	37	c.2812C>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	C	47	13.073423	0.99717	0.0	1.16E-4	ENSG00000113522	ENST00000378823;ENST00000265335	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4065	19.5418	0.95277	0.0:1.0:0.0:0.0	.	.	.	.	X	938;1077	.	ENSP00000265335:R1077X	R	+	1	2	RAD50	131981725	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	2.519000	0.45546	2.684000	0.91462	0.655000	0.94253	CGA		0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		88	176	0	0	0	1	0	88	176				
ACVR1B	91	broad.mit.edu	37	12	52374808	52374808	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52374808T>G	ENST00000257963.4	+	4	713	c.636T>G	c.(634-636)atT>atG	p.I212M	ACVR1B_ENST00000542485.1_Missense_Mutation_p.I160M|ACVR1B_ENST00000426655.2_Missense_Mutation_p.I212M|ACVR1B_ENST00000415850.2_Missense_Mutation_p.I212M|ACVR1B_ENST00000541224.1_Missense_Mutation_p.I212M	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TACAAGAGATTATTGGCAAGG	0.498											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(634-636)atT>atG		activin A receptor, type IB	Adenosine triphosphate(DB00171)						73.0	73.0	73.0					12																	52374808		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52374808T>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.636T>G	12.37:g.52374808T>G	ENSP00000257963:p.Ile212Met		OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	984	ACVR1B_ENST00000415850.2_Missense_Mutation_p.I212M|ACVR1B_ENST00000542485.1_Missense_Mutation_p.I160M|ACVR1B_ENST00000426655.2_Missense_Mutation_p.I212M|ACVR1B_ENST00000541224.1_Missense_Mutation_p.I212M	p.I212M	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	4	713	+			212			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.636T>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789019	0.70337	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.94	-3.09	0.05331	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	N	0.25245	0.725	0.53688	D	0.99997	P;P;P;D	0.53885	0.93;0.828;0.866;0.963	P;P;P;P	0.58620	0.741;0.82;0.741;0.842	D	0.84377	0.0547	10	0.48119	T	0.1	.	6.2858	0.21033	0.2802:0.5271:0.0:0.1927	.	212;212;212;212	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	M	212;212;212;212;160	ENSP00000257963:I212M;ENSP00000442656:I212M;ENSP00000390477:I212M;ENSP00000397550:I212M;ENSP00000442885:I160M	ENSP00000257963:I212M	I	+	3	3	ACVR1B	50661075	0.998000	0.40836	0.988000	0.46212	0.987000	0.75469	0.616000	0.24344	-0.502000	0.06596	-0.256000	0.11100	ATT		0.498	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		3	61	0	0	0	1	0	3	61				
ARL10	285598	broad.mit.edu	37	5	175793460	175793460	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793460C>T	ENST00000310389.5	+	2	357	c.261C>T	c.(259-261)ggC>ggT	p.G87G	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	87					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCTGGATGGCGCAGGCAAGA	0.682																																						ENST00000310389.5																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(259-261)ggC>ggT		ADP-ribosylation factor-like 10							60.0	66.0	64.0					5																	175793460		2203	4300	6503	SO:0001819	synonymous_variant	285598						GTP binding	g.chr5:175793460C>T	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.261C>T	5.37:g.175793460C>T							p.G87G	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	2	357	+	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	87						Silent	SNP	ENST00000310389.5	37	c.261C>T	CCDS4400.1																																																																																				0.682	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		9	12	0	0	0	1	0	9	12				
GUSB	2990	broad.mit.edu	37	7	65432799	65432799	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65432799C>A	ENST00000304895.4	-	10	1702	c.1572G>T	c.(1570-1572)caG>caT	p.Q524H	GUSB_ENST00000421103.1_Missense_Mutation_p.Q378H|GUSB_ENST00000345660.6_Missense_Mutation_p.Q473H	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	524					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGTTCTCAAACTGGGTGGCCA	0.483																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1570-1572)caG>caT		glucuronidase, beta							115.0	119.0	118.0					7																	65432799		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65432799C>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1572G>T	7.37:g.65432799C>A	ENSP00000302728:p.Gln524His					GUSB_ENST00000345660.6_Missense_Mutation_p.Q473H|GUSB_ENST00000421103.1_Missense_Mutation_p.Q378H	p.Q524H	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			10	1702	-			524					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1572G>T	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853965	0.51270	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95238	-3.65;-3.65;-3.65	5.45	4.37	0.52481	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.274240	0.42548	D	0.000685	D	0.92815	0.7715	L	0.53780	1.695	0.50813	D	0.999896	B;B	0.28470	0.213;0.07	B;B	0.33339	0.162;0.041	D	0.92367	0.5902	10	0.87932	D	0	.	14.1876	0.65617	0.0:0.9146:0.0:0.0854	.	378;524	E9PCV0;P08236	.;BGLR_HUMAN	H	524;378;473	ENSP00000302728:Q524H;ENSP00000391390:Q378H;ENSP00000340734:Q473H	ENSP00000302728:Q524H	Q	-	3	2	GUSB	65070234	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	3.203000	0.51075	2.550000	0.86006	0.542000	0.68232	CAG		0.483	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		22	76	1	0	1.9806e-07	1	2.3338e-07	22	76				
ADIPOR2	79602	broad.mit.edu	37	12	1887032	1887032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1887032C>T	ENST00000357103.4	+	4	555	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	ADIPOR2_ENST00000544470.1_3'UTR	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	102					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATGGGAAGGTCGGTGGCGAGT	0.478																																						ENST00000357103.4																			0				endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12						c.(304-306)Cgg>Tgg		adiponectin receptor 2							169.0	128.0	141.0					12																	1887032		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1887032C>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.304C>T	12.37:g.1887032C>T	ENSP00000349616:p.Arg102Trp					ADIPOR2_ENST00000544470.1_3'UTR	p.R102W	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		4	555	+	Ovarian(42;0.107)		102					Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.304C>T	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158835	0.78226	.	.	ENSG00000006831	ENST00000357103	D	0.96992	-4.2	4.98	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	L	0.46157	1.445	0.80722	D	1	D	0.59767	0.986	P	0.48571	0.582	D	0.94543	0.7747	10	0.72032	D	0.01	-6.5893	12.7274	0.57178	0.2994:0.7006:0.0:0.0	.	102	Q86V24	ADR2_HUMAN	W	102	ENSP00000349616:R102W	ENSP00000349616:R102W	R	+	1	2	ADIPOR2	1757293	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	1.936000	0.40183	1.201000	0.43203	0.462000	0.41574	CGG		0.478	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		16	36	0	0	0	1	0	16	36				
LECT1	11061	broad.mit.edu	37	13	53277790	53277790	+	Silent	SNP	C	C	T	rs78575404	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53277790C>T	ENST00000377962.3	-	7	1023	c.945G>A	c.(943-945)tcG>tcA	p.S315S	LECT1_ENST00000448904.2_Silent_p.S314S			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	315					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCTGCAGGCCGAACGGCAGC	0.493													C|||	22	0.00439297	0.0166	0.0	5008	,	,		17006	0.0		0.0	False		,,,				2504	0.0					ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(940-942)tcG>tcA		leukocyte cell derived chemotaxin 1		C	,	44,4362	45.3+/-79.5	0,44,2159	75.0	75.0	75.0		942,945	-10.6	0.0	13	dbSNP_132	75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	LECT1	NM_001011705.1,NM_007015.2	,	0,46,6457	TT,TC,CC		0.0233,0.9986,0.3537	,	314/334,315/335	53277790	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53277790C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.945G>A	13.37:g.53277790C>T						LECT1_ENST00000377962.3_Silent_p.S315S	p.S314S	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	7	1052	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	315					Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	ENST00000377962.3	37	c.942G>A	CCDS9437.1																																																																																				0.493	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			15	41	0	0	0	1	0	15	41				
PPIP5K2	23262	broad.mit.edu	37	5	102484967	102484967	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102484967C>A	ENST00000358359.3	+	8	1365	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L286I|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L286I|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	286					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCTGTTATTCTCAATGCACG	0.398																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(856-858)Ctc>Atc		diphosphoinositol pentakisphosphate kinase 2							111.0	110.0	111.0					5																	102484967		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102484967C>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.856C>A	5.37:g.102484967C>A	ENSP00000351126:p.Leu286Ile					PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L286I|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L286I|PPIP5K2_ENST00000513500.1_3'UTR	p.L286I			O43314	VIP2_HUMAN			8	1429	+			286					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.856C>A		.	.	.	.	.	.	.	.	.	.	C	33	5.266311	0.95399	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.39229	1.13;3.07;1.09;1.13	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000006	T	0.74045	0.3665	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	T	0.81191	-0.1045	10	0.87932	D	0	.	19.0897	0.93221	0.0:1.0:0.0:0.0	.	208;286;286	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	I	286;208;286;286;286	ENSP00000313070:L286I;ENSP00000422525:L208I;ENSP00000351126:L286I;ENSP00000416016:L286I	ENSP00000313070:L286I	L	+	1	0	PPIP5K2	102512866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.772000	0.85439	2.569000	0.86673	0.655000	0.94253	CTC		0.398	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		5	50	1	0	3.59834e-05	1	4.01776e-05	5	50				
AP1G2	8906	broad.mit.edu	37	14	24034396	24034396	+	Missense_Mutation	SNP	G	G	A	rs566425276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24034396G>A	ENST00000308724.5	-	7	1509	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R252C|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	252					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAAGCAGACGAAGTATCTGG	0.557																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(754-756)Cgt>Tgt		adaptor-related protein complex 1, gamma 2 subunit							56.0	47.0	50.0					14																	24034396		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24034396G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.754C>T	14.37:g.24034396G>A	ENSP00000312442:p.Arg252Cys					AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R252C	p.R252C	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	7	1509	-	all_cancers(95;0.000251)		252					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.754C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996276	0.74818	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.28895	1.59;1.59	4.56	3.59	0.41128	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73177	-0.4065	10	0.87932	D	0	-7.5323	11.5465	0.50696	0.0:0.0:0.8102:0.1898	.	252;107	O75843;Q86V28	AP1G2_HUMAN;.	C	252;252;42;107	ENSP00000312442:R252C;ENSP00000380309:R252C	ENSP00000312442:R252C	R	-	1	0	AP1G2	23104236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.094000	0.57721	2.362000	0.80069	0.462000	0.41574	CGT		0.557	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		8	21	0	0	0	1	0	8	21				
CSF1R	1436	broad.mit.edu	37	5	149459812	149459812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149459812G>T	ENST00000286301.3	-	4	686	c.395C>A	c.(394-396)cCg>cAg	p.P132Q	CSF1R_ENST00000543093.1_Missense_Mutation_p.P132Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	132	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTCCAGCACCGGGTCTGTGAG	0.642																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(394-396)cCg>cAg		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						59.0	52.0	55.0					5																	149459812		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149459812G>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.395C>A	5.37:g.149459812G>T	ENSP00000286301:p.Pro132Gln					CSF1R_ENST00000543093.1_Missense_Mutation_p.P132Q	p.P132Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	686	-			132			Ig-like C2-type 2.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.395C>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883546	0.51908	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	D;T	0.84298	-1.83;0.59	4.92	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000050	D	0.91730	0.7385	M	0.79258	2.445	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92665	0.6145	10	0.87932	D	0	.	13.6169	0.62115	0.0:0.0:1.0:0.0	.	132;132;132	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	Q	132	ENSP00000286301:P132Q;ENSP00000445282:P132Q	ENSP00000286301:P132Q	P	-	2	0	CSF1R	149440005	0.999000	0.42202	0.870000	0.34147	0.101000	0.19017	4.422000	0.59854	2.275000	0.75901	0.561000	0.74099	CCG		0.642	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		4	28	1	0	0.00024832	1	0.0002712	4	28				
EP300	2033	broad.mit.edu	37	22	41574637	41574637	+	Missense_Mutation	SNP	C	C	T	rs145312648		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574637C>T	ENST00000263253.7	+	31	8141	c.6922C>T	c.(6922-6924)Cgc>Tgc	p.R2308C	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2308					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATCAAGTGCGCTCTCCCCA	0.612			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6922-6924)Cgc>Tgc		E1A binding protein p300		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	112.0	113.0		6922	5.5	1.0	22	dbSNP_134	113	3,8597	3.0+/-9.4	0,3,4297	no	missense	EP300	NM_001429.3	180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	2308/2415	41574637	4,13002	2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574637C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6922C>T	22.37:g.41574637C>T	ENSP00000263253:p.Arg2308Cys					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.R2308C	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8141	+			2308					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6922C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802302	0.50315	2.27E-4	3.49E-4	ENSG00000100393	ENST00000263253	D	0.87966	-2.32	5.5	5.5	0.81552	.	0.000000	0.47852	D	0.000214	D	0.89308	0.6678	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88771	0.3264	10	0.37606	T	0.19	-7.1643	19.3945	0.94601	0.0:1.0:0.0:0.0	.	2308	Q09472	EP300_HUMAN	C	2308	ENSP00000263253:R2308C	ENSP00000263253:R2308C	R	+	1	0	EP300	39904583	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.014000	0.70784	2.581000	0.87130	0.655000	0.94253	CGC		0.612	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		21	26	0	0	0	1	0	21	26				
FMR1	2332	broad.mit.edu	37	X	147026457	147026457	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147026457T>C	ENST00000370475.4	+	15	1668	c.1540T>C	c.(1540-1542)Tca>Cca	p.S514P	FMR1_ENST00000440235.2_Missense_Mutation_p.S161P|FMR1_ENST00000218200.8_Missense_Mutation_p.S493P|FMR1_ENST00000439526.2_Missense_Mutation_p.S491P|FMR1_ENST00000370477.1_Missense_Mutation_p.S481P|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370470.1_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGATTGGTCATTAGCTCC	0.498									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1477-1479)Tca>Cca		fragile X mental retardation 1							62.0	55.0	57.0					X																	147026457		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026457T>C	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1540T>C	X.37:g.147026457T>C	ENSP00000359506:p.Ser514Pro					FMR1_ENST00000370475.4_Missense_Mutation_p.S514P|FMR1_ENST00000370477.1_Missense_Mutation_p.S481P|FMR1_ENST00000440235.2_Missense_Mutation_p.S161P|FMR1_ENST00000439526.2_Missense_Mutation_p.S491P|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370470.1_Intron	p.S493P	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			14	1706	+	Acute lymphoblastic leukemia(192;6.56e-05)		514			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1477T>C	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841386	0.71488	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000440235	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	L	0.57536	1.79	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.91635	0.991;0.999;0.998;0.994	T	0.63047	-0.6724	10	0.59425	D	0.04	-18.9429	14.4227	0.67196	0.0:0.0:0.0:1.0	.	161;514;409;491	F8W871;Q06787;Q59GC1;G3V0J0	.;FMR1_HUMAN;.;.	P	493;481;514;491;161	ENSP00000218200:S493P;ENSP00000359508:S481P;ENSP00000359506:S514P;ENSP00000395923:S491P;ENSP00000413764:S161P	ENSP00000218200:S493P	S	+	1	0	FMR1	146834149	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.420000	0.80191	2.005000	0.58758	0.481000	0.45027	TCA		0.498	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		16	12	0	0	0	1	0	16	12				
SNX14	57231	broad.mit.edu	37	6	86224236	86224236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86224236G>T	ENST00000314673.3	-	24	2556	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	SNX14_ENST00000513865.1_Missense_Mutation_p.L513M|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L742M|SNX14_ENST00000369627.2_Missense_Mutation_p.L785M|SNX14_ENST00000346348.3_Missense_Mutation_p.L741M	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	794					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACATACATCAGGTAATCATAG	0.333																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2380-2382)Ctg>Atg		sorting nexin 14							175.0	173.0	174.0					6																	86224236		2203	4297	6500	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86224236G>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2380C>A	6.37:g.86224236G>T	ENSP00000313121:p.Leu794Met					SNX14_ENST00000369627.2_Missense_Mutation_p.L785M|SNX14_ENST00000346348.3_Missense_Mutation_p.L741M|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L742M|SNX14_ENST00000513865.1_Missense_Mutation_p.L513M	p.L794M	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	24	2556	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	794					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.2380C>A	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	8.693	0.907861	0.17833	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T;T	0.39997	1.57;1.52;1.14;1.53;1.56;1.63;1.05	5.66	2.47	0.30058	.	0.071119	0.56097	D	0.000024	T	0.07234	0.0183	N	0.02802	-0.49	0.45427	D	0.998405	B;B;B;B	0.30584	0.286;0.158;0.116;0.096	B;B;B;B	0.24974	0.057;0.042;0.026;0.042	T	0.10636	-1.0621	10	0.37606	T	0.19	-7.6999	9.1476	0.36942	0.3469:0.0:0.6531:0.0	.	785;741;794;742	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	M	741;251;794;513;742;785;712;159	ENSP00000257769:L741M;ENSP00000313121:L794M;ENSP00000420938:L513M;ENSP00000427380:L742M;ENSP00000358641:L785M;ENSP00000425630:L712M;ENSP00000391981:L159M	ENSP00000313121:L794M	L	-	1	2	SNX14	86280955	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.957000	0.40392	0.754000	0.32968	-0.157000	0.13467	CTG		0.333	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		37	85	1	0	1.04594e-18	1	1.366e-18	37	85				
FBXO47	494188	broad.mit.edu	37	17	37118187	37118187	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118187G>T	ENST00000378079.2	-	3	494	c.295C>A	c.(295-297)Ctt>Att	p.L99I		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	99										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGCAGCTCAAGGTTATGAAAG	0.398																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(295-297)Ctt>Att		F-box protein 47							194.0	182.0	186.0					17																	37118187		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37118187G>T		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.295C>A	17.37:g.37118187G>T	ENSP00000367319:p.Leu99Ile						p.L99I	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			3	494	-			99					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.295C>A	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507106	0.27036	.	.	ENSG00000204952	ENST00000378079	T	0.70631	-0.5	5.59	2.53	0.30540	.	0.489229	0.21476	N	0.073916	T	0.49712	0.1573	L	0.27053	0.805	0.25032	N	0.991261	B	0.10296	0.003	B	0.06405	0.002	T	0.18967	-1.0320	10	0.26408	T	0.33	-8.3127	3.9087	0.09193	0.3028:0.0:0.5305:0.1667	.	99	Q5MNV8	FBX47_HUMAN	I	99	ENSP00000367319:L99I	ENSP00000367319:L99I	L	-	1	0	FBXO47	34371713	0.909000	0.30893	1.000000	0.80357	0.995000	0.86356	0.438000	0.21559	1.365000	0.46057	0.462000	0.41574	CTT		0.398	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		5	108	1	0	1.06961e-07	1	1.26574e-07	5	108				
TRAV17	28666	broad.mit.edu	37	14	22465958	22465958	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22465958C>A	ENST00000390445.2	+	0	181									T cell receptor alpha variable 17																		TTTGGTGATTCTATGGCTTCA	0.458																																						ENST00000390445.2																			0																				102.0	101.0	101.0					14																	22465958		1854	4093	5947			0							g.chr14:22465958C>A	AE000660		14q11.2	2012-02-07			ENSG00000211797	ENSG00000211797		"""T cell receptors / TRA locus"""	12113	other	T cell receptor gene						8188290, 8662074	Standard	NG_001332		Approved	TCRAV17S1, TCRAV3S1			OTTHUMG00000170643		14.37:g.22465958C>A														0	181	+									RNA	SNP	ENST00000390445.2	37																																																																																						0.458	TRAV17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409891.1	NG_001332		5	52	1	0	0.00116845	1	0.00124821	5	52				
TERF1	7013	broad.mit.edu	37	8	73937122	73937122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73937122C>A	ENST00000276603.5	+	5	713	c.690C>A	c.(688-690)caC>caA	p.H230Q	TERF1_ENST00000276602.6_Missense_Mutation_p.H230Q	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	230	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTTTTCAACACTTCAGCTACA	0.284																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(688-690)caC>caA		telomeric repeat binding factor (NIMA-interacting) 1							73.0	71.0	72.0					8																	73937122		2198	4283	6481	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73937122C>A	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.690C>A	8.37:g.73937122C>A	ENSP00000276603:p.His230Gln					TERF1_ENST00000276603.5_Missense_Mutation_p.H230Q	p.H230Q	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		5	713	+	Breast(64;0.218)		230			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.690C>A	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668601	0.47677	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000517390	.	.	.	5.77	3.96	0.45880	Telomere repeat-binding factor, dimerisation domain (4);	0.314153	0.38058	N	0.001836	T	0.55465	0.1922	L	0.44542	1.39	0.35102	D	0.765317	P;D	0.58268	0.951;0.982	P;P	0.56398	0.512;0.797	T	0.65623	-0.6123	9	0.66056	D	0.02	.	8.215	0.31505	0.0:0.7594:0.1569:0.0838	.	230;230	P54274-2;P54274	.;TERF1_HUMAN	Q	230;230;126	.	ENSP00000276602:H230Q	H	+	3	2	TERF1	74099676	0.989000	0.36119	1.000000	0.80357	0.670000	0.39368	0.500000	0.22562	0.774000	0.33427	-0.150000	0.13652	CAC		0.284	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		4	30	1	0	0.00909568	1	0.00947522	4	30				
DHX8	1659	broad.mit.edu	37	17	41601029	41601029	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601029G>T	ENST00000262415.3	+	23	3549	c.3477G>T	c.(3475-3477)aaG>aaT	p.K1159N	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1159					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCACCACCAAGGAATACATGC	0.537																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3475-3477)aaG>aaT		DEAH (Asp-Glu-Ala-His) box polypeptide 8							137.0	117.0	124.0					17																	41601029		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41601029G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3477G>T	17.37:g.41601029G>T	ENSP00000262415:p.Lys1159Asn					DHX8_ENST00000540306.1_Intron	p.K1159N	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	23	3549	+		Breast(137;0.00908)	1159						Missense_Mutation	SNP	ENST00000262415.3	37	c.3477G>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230590	0.79688	.	.	ENSG00000067596	ENST00000262415	T	0.02579	4.24	6.17	5.21	0.72293	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.02901	-1.1096	10	0.87932	D	0	.	10.7366	0.46128	0.1428:0.0:0.8572:0.0	.	1159	Q14562	DHX8_HUMAN	N	1159	ENSP00000262415:K1159N	ENSP00000262415:K1159N	K	+	3	2	DHX8	38956555	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.374000	0.52402	1.635000	0.50512	0.655000	0.94253	AAG		0.537	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			6	84	1	0	5.9392e-07	1	6.91975e-07	6	84				
GFPT1	2673	broad.mit.edu	37	2	69597161	69597161	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69597161T>G	ENST00000357308.4	-	3	373	c.195A>C	c.(193-195)aaA>aaC	p.K65N	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.K65N	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	65	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGCCTTAACTTTTCCTTTCT	0.408																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(193-195)aaA>aaC		glutamine--fructose-6-phosphate transaminase 1							186.0	168.0	174.0					2																	69597161		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69597161T>G		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.195A>C	2.37:g.69597161T>G	ENSP00000349860:p.Lys65Asn					GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.4_Missense_Mutation_p.K65N	p.K65N	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			3	373	-			65			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.195A>C	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883980	0.51908	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.77358	-1.09;-1.09	4.72	3.55	0.40652	.	0.097600	0.64402	D	0.000002	T	0.73450	0.3588	M	0.66506	2.035	0.80722	D	1	B	0.25272	0.122	B	0.24974	0.057	T	0.70099	-0.4965	10	0.51188	T	0.08	-19.0216	9.3579	0.38177	0.0:0.0862:0.0:0.9138	.	65	Q06210-2	.	N	65	ENSP00000349860:K65N;ENSP00000354347:K65N	ENSP00000349860:K65N	K	-	3	2	GFPT1	69450665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.943000	0.40253	0.840000	0.34995	0.374000	0.22700	AAA		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				9	89	0	0	0	1	0	9	89				
FBXO36	130888	broad.mit.edu	37	2	230875554	230875554	+	Missense_Mutation	SNP	G	G	A	rs145410117		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230875554G>A	ENST00000283946.3	+	4	539	c.521G>A	c.(520-522)cGc>cAc	p.R174H	FBXO36_ENST00000373652.3_Missense_Mutation_p.R143H|FBXO36_ENST00000409992.1_Missense_Mutation_p.R154H	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	174										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGGCAGCTCCGCAAGAGGAAA	0.542																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(427-429)cGc>cAc		F-box protein 36		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	30.0	31.0	31.0		521	4.0	1.0	2	dbSNP_134	31	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FBXO36	NM_174899.4	29	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	possibly-damaging	174/189	230875554	6,13000	2203	4300	6503	SO:0001583	missense	130888							g.chr2:230875554G>A	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.521G>A	2.37:g.230875554G>A	ENSP00000283946:p.Arg174His					FBXO36_ENST00000283946.3_Missense_Mutation_p.R174H|FBXO36_ENST00000409992.1_Missense_Mutation_p.R154H	p.R143H			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	5	849	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	174					B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	c.428G>A	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345971	0.82022	4.54E-4	4.65E-4	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.24151	1.87;1.87;1.87	4.86	3.96	0.45880	F-box domain, Skp2-like (1);	0.368683	0.26457	N	0.024271	T	0.36248	0.0960	M	0.61703	1.905	0.37892	D	0.930746	D;D	0.76494	0.999;0.979	P;P	0.50231	0.635;0.556	T	0.42464	-0.9450	10	0.54805	T	0.06	-10.4952	13.8305	0.63377	0.0:0.1551:0.8449:0.0	.	143;174	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	H	143;174;154	ENSP00000362756:R143H;ENSP00000283946:R174H;ENSP00000386673:R154H	ENSP00000283946:R174H	R	+	2	0	FBXO36	230583798	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.552000	0.53705	0.987000	0.38709	0.511000	0.50034	CGC		0.542	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		7	9	0	0	0	1	0	7	9				
FCGBP	8857	broad.mit.edu	37	19	40433710	40433710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433710C>T	ENST00000221347.6	-	2	566	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	187	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACATCGCCTGCTGGATAGAAC	0.567																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(559-561)Gca>Aca		Fc fragment of IgG binding protein							76.0	73.0	74.0					19																	40433710		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433710C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.559G>A	19.37:g.40433710C>T	ENSP00000221347:p.Ala187Thr						p.A187T	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	566	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		187			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.559G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	8.143	0.785749	0.16189	.	.	ENSG00000090920	ENST00000221347	T	0.20332	2.08	4.47	1.1	0.20463	.	0.296718	0.26173	N	0.025912	T	0.17109	0.0411	L	0.58810	1.83	0.09310	N	1	P	0.35077	0.483	B	0.27887	0.084	T	0.11299	-1.0593	10	0.42905	T	0.14	.	9.8114	0.40826	0.1632:0.6023:0.2344:0.0	.	187	Q9Y6R7	FCGBP_HUMAN	T	187	ENSP00000221347:A187T	ENSP00000221347:A187T	A	-	1	0	FCGBP	45125550	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.316000	0.19469	0.349000	0.23975	0.655000	0.94253	GCA		0.567	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		24	41	0	0	0	1	0	24	41				
CADPS	8618	broad.mit.edu	37	3	62452065	62452065	+	Silent	SNP	G	G	A	rs372813406		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62452065G>A	ENST00000383710.4	-	25	3850	c.3501C>T	c.(3499-3501)gaC>gaT	p.D1167D	CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000357948.3_Silent_p.D1088D|CADPS_ENST00000283269.9_Silent_p.D1128D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1167					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAATTAGTTCGTCTATTTTTG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		19230	0.0		0.0	False		,,,				2504	0.001					ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3499-3501)gaC>gaT		Ca++-dependent secretion activator		G	,,	0,4406		0,0,2203	167.0	167.0	167.0		3501,3264,3384	-5.1	0.9	3		167	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1167/1354,1088/1275,1128/1315	62452065	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62452065G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3501C>T	3.37:g.62452065G>A						CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000283269.9_Silent_p.D1128D|CADPS_ENST00000357948.3_Silent_p.D1088D	p.D1167D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	25	3850	-		Lung SC(41;0.0452)	1167					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3501C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.511|4.511	0.094860|0.094860	0.08681|0.08681	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000473635	.|.	.|.	.|.	5.75|5.75	-5.13|-5.13	0.02884|0.02884	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63733	.|0.2536	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65105	.|-0.6249	.|4	.|.	.|.	.|.	.|.	15.4576|15.4576	0.75327|0.75327	0.7671:0.0:0.2329:0.0|0.7671:0.0:0.2329:0.0	.|.	.|.	.|.	.|.	X|M	79|159	.|.	.|.	R|T	-|-	1|2	2|0	CADPS|CADPS	62427105|62427105	0.162000|0.162000	0.22906|0.22906	0.931000|0.931000	0.37212|0.37212	0.995000|0.995000	0.86356|0.86356	-0.333000|-0.333000	0.07894|0.07894	-0.871000|-0.871000	0.04042|0.04042	-0.136000|-0.136000	0.14681|0.14681	CGA|ACG		0.363	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		5	16	0	0	0	1	0	5	16				
RPL35	11224	broad.mit.edu	37	9	127620260	127620260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127620260C>A	ENST00000348462.3	-	4	357	c.309G>T	c.(307-309)aaG>aaT	p.K103N	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	103					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCTTCTTGGTCTTCAGGTTCT	0.607																																						ENST00000348462.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(307-309)aaG>aaT		ribosomal protein L35							49.0	42.0	44.0					9																	127620260		2203	4300	6503	SO:0001583	missense	11224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr9:127620260C>A	U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.309G>T	9.37:g.127620260C>A	ENSP00000259469:p.Lys103Asn					RPL35_ENST00000373570.4_3'UTR	p.K103N	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN		GBM - Glioblastoma multiforme(294;0.182)	4	357	-			103					A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	ENST00000348462.3	37	c.309G>T	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817655	0.71028	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.6	5.6	0.85130	.	0.099013	0.64402	D	0.000002	T	0.76905	0.4053	M	0.93328	3.405	0.46521	D	0.999081	B	0.33748	0.423	B	0.31946	0.138	T	0.80783	-0.1228	9	0.62326	D	0.03	.	18.9733	0.92724	0.0:1.0:0.0:0.0	.	103	P42766	RL35_HUMAN	N	103	.	ENSP00000259469:K103N	K	-	3	2	RPL35	126660081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.506000	0.60428	2.806000	0.96561	0.655000	0.94253	AAG		0.607	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209		4	28	1	0	0.00116845	1	0.00124821	4	28				
CNKSR2	22866	broad.mit.edu	37	X	21609230	21609230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609230C>T	ENST00000379510.3	+	15	1784	c.1748C>T	c.(1747-1749)gCg>gTg	p.A583V	CNKSR2_ENST00000543067.1_Missense_Mutation_p.A534V|CNKSR2_ENST00000279451.4_Missense_Mutation_p.A583V|CNKSR2_ENST00000425654.2_Missense_Mutation_p.A553V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	583	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGAAAGATGCGAAGAGTTAC	0.403																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1657-1659)gCg>gTg		connector enhancer of kinase suppressor of Ras 2							116.0	112.0	113.0					X																	21609230		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609230C>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1748C>T	X.37:g.21609230C>T	ENSP00000368824:p.Ala583Val					CNKSR2_ENST00000379510.3_Missense_Mutation_p.A583V|CNKSR2_ENST00000543067.1_Missense_Mutation_p.A534V|CNKSR2_ENST00000279451.4_Missense_Mutation_p.A583V	p.A553V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			14	2138	+			583					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1658C>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010428	0.93346	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.989;0.99;1.0;0.999	P;P;D;D	0.80764	0.898;0.811;0.994;0.962	T	0.03068	-1.1076	10	0.40728	T	0.16	-24.2264	18.1345	0.89614	0.0:1.0:0.0:0.0	.	553;534;175;583	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	V	553;534;583;583	ENSP00000397906:A553V;ENSP00000444633:A534V;ENSP00000279451:A583V;ENSP00000368824:A583V	ENSP00000279451:A583V	A	+	2	0	CNKSR2	21519151	1.000000	0.71417	0.985000	0.45067	0.924000	0.55760	7.487000	0.81328	2.219000	0.72066	0.523000	0.50628	GCG		0.403	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		72	82	0	0	0	1	0	72	82				
DZIP1L	199221	broad.mit.edu	37	3	137813726	137813726	+	Missense_Mutation	SNP	G	G	A	rs148594666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137813726G>A	ENST00000327532.2	-	4	1048	c.686C>T	c.(685-687)gCg>gTg	p.A229V	DZIP1L_ENST00000488595.1_5'Flank|DZIP1L_ENST00000469243.1_Missense_Mutation_p.A229V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	229					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.A229V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTGCCTCTCCGCCTCCCTCTG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18688	0.0		0.001	False		,,,				2504	0.0					ENST00000327532.2																			1	Substitution - Missense(1)	p.A229V(1)	kidney(1)	breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(685-687)gCg>gTg		DAZ interacting zinc finger protein 1-like		G	VAL/ALA,VAL/ALA	5,4401	11.4+/-27.6	0,5,2198	165.0	150.0	155.0		686,686	4.0	0.9	3	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	DZIP1L	NM_001170538.1,NM_173543.2	64,64	0,7,6496	AA,AG,GG		0.0233,0.1135,0.0538	probably-damaging,probably-damaging	229/540,229/768	137813726	7,12999	2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137813726G>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.686C>T	3.37:g.137813726G>A	ENSP00000332148:p.Ala229Val					DZIP1L_ENST00000469243.1_Missense_Mutation_p.A229V	p.A229V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			4	1048	-			229					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.686C>T	CCDS3096.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	19.38	3.817106	0.70912	0.001135	2.33E-4	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.61742	0.08;0.08	4.85	3.98	0.46160	.	0.373900	0.23975	N	0.042735	T	0.65112	0.2660	M	0.77820	2.39	0.31129	N	0.707908	D;D	0.63046	0.992;0.983	P;B	0.51866	0.682;0.403	T	0.71269	-0.4643	10	0.72032	D	0.01	-7.2301	8.6715	0.34154	0.1743:0.0:0.8257:0.0	.	229;229	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	V	229	ENSP00000332148:A229V;ENSP00000419486:A229V	ENSP00000332148:A229V	A	-	2	0	DZIP1L	139296416	0.936000	0.31750	0.894000	0.35097	0.944000	0.59088	1.453000	0.35167	1.266000	0.44231	-0.214000	0.12660	GCG		0.567	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		31	45	0	0	0	1	0	31	45				
FAT2	2196	broad.mit.edu	37	5	150901209	150901209	+	Missense_Mutation	SNP	G	G	A	rs142359154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150901209G>A	ENST00000261800.5	-	18	10957	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3649					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19909	0.0		0.001	False		,,,				2504	0.0					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10945-10947)Cgg>Tgg		FAT atypical cadherin 2		G	TRP/ARG	0,4406		0,0,2203	34.0	30.0	32.0		10945	2.8	1.0	5	dbSNP_134	32	1,8597		0,1,4298	yes	missense	FAT2	NM_001447.2	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3649/4350	150901209	1,13003	2203	4299	6502	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901209G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10945C>T	5.37:g.150901209G>A	ENSP00000261800:p.Arg3649Trp						p.R3649W	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10957	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3649					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10945C>T	CCDS4317.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	G|G	17.72|17.72	3.458697|3.458697	0.63401|0.63401	0.0|0.0	1.16E-4|1.16E-4	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.51817	.|0.69	5.71|5.71	2.8|2.8	0.32819|0.32819	.|.	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.67458|0.67458	0.2895|0.2895	M|M	0.73962|0.73962	2.25|2.25	0.52501|0.52501	D|D	0.999956|0.999956	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.70317|0.70317	-0.4905|-0.4905	5|10	.|0.87932	.|D	.|0	.|.	14.5588|14.5588	0.68120|0.68120	0.0:0.0:0.5656:0.4344|0.0:0.0:0.5656:0.4344	.|.	.|3649;840	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	V|W	507|3649	.|ENSP00000261800:R3649W	.|ENSP00000261800:R3649W	A|R	-|-	2|1	0|2	FAT2|FAT2	150881402|150881402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	2.794000|2.794000	0.47853|0.47853	0.264000|0.264000	0.21851|0.21851	-0.475000|-0.475000	0.04921|0.04921	GCG|CGG		0.607	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	30	0	0	0	1	0	9	30				
ALDH5A1	7915	broad.mit.edu	37	6	24515450	24515450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24515450G>A	ENST00000357578.3	+	5	927	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R274Q|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R233Q|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R173Q	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	261					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CCCTGTTCTCGAAAGAATGCC	0.423																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(781-783)cGa>cAa		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						145.0	130.0	135.0					6																	24515450		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24515450G>A	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.782G>A	6.37:g.24515450G>A	ENSP00000350191:p.Arg261Gln					ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R233Q|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R274Q|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R173Q	p.R261Q	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			5	927	+			261					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.782G>A	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340149	0.24339	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.79352	-0.92;-1.13;-1.26;-0.92	5.33	1.1	0.20463	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.219510	0.45606	N	0.000354	T	0.39627	0.1085	L	0.44542	1.39	0.19300	N	0.999975	P;P	0.36249	0.457;0.545	B;B	0.22880	0.042;0.025	T	0.34850	-0.9812	10	0.17369	T	0.5	.	9.1675	0.37060	0.3046:0.0:0.6954:0.0	.	261;274	P51649;G5E949	SSDH_HUMAN;.	Q	261;173;233;274	ENSP00000350191:R261Q;ENSP00000438193:R173Q;ENSP00000417687:R233Q;ENSP00000314649:R274Q	ENSP00000314649:R274Q	R	+	2	0	ALDH5A1	24623429	0.481000	0.25941	0.000000	0.03702	0.187000	0.23431	1.378000	0.34328	0.002000	0.14630	0.591000	0.81541	CGA		0.423	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			38	55	0	0	0	1	0	38	55				
DENND5A	23258	broad.mit.edu	37	11	9164959	9164959	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9164959A>G	ENST00000328194.3	-	20	3698	c.3378T>C	c.(3376-3378)ccT>ccC	p.P1126P	DENND5A_ENST00000530044.1_Silent_p.P1126P|DENND5A_ENST00000527700.1_Silent_p.P469P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1126					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTTTCTCAGGCTTATGGA	0.458																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3376-3378)ccT>ccC		DENN/MADD domain containing 5A							236.0	218.0	224.0					11																	9164959		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9164959A>G	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3378T>C	11.37:g.9164959A>G						DENND5A_ENST00000527700.1_Silent_p.P469P|DENND5A_ENST00000530044.1_Silent_p.P1126P	p.P1126P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			20	3698	-			1126					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.3378T>C	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354559	0.24512	.	.	ENSG00000184014	ENST00000533737	.	.	.	6.04	0.573	0.17363	.	.	.	.	.	T	0.51295	0.1666	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38045	-0.9679	4	.	.	.	.	5.4237	0.16413	0.5967:0.0:0.2024:0.2008	.	.	.	.	P	14	.	.	L	-	2	0	DENND5A	9121535	0.005000	0.15991	1.000000	0.80357	0.997000	0.91878	-1.087000	0.03383	0.184000	0.20083	0.460000	0.39030	CTG		0.458	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		29	261	0	0	0	1	0	29	261				
UBA6	55236	broad.mit.edu	37	4	68543398	68543398	+	Silent	SNP	G	G	A	rs371915320		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68543398G>A	ENST00000322244.5	-	6	455	c.396C>T	c.(394-396)taC>taT	p.Y132Y	UBA6_ENST00000420827.2_Silent_p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	132					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.Y132*(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACATGAACGTATGGATTTA	0.294																																						ENST00000322244.4																			1	Substitution - Nonsense(1)	p.Y132*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(394-396)taC>taT		ubiquitin-like modifier activating enzyme 6		A		1,4405	825.8+/-416.5	0,1,2202	156.0	152.0	153.0		396	1.2	1.0	4		153	0,8596		0,0,4298	no	coding-synonymous	UBA6	NM_018227.5		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		132/1053	68543398	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68543398G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.396C>T	4.37:g.68543398G>A						UBA6_ENST00000420827.2_Silent_p.Y132Y	p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			6	455	-			132					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.396C>T	CCDS3516.1																																																																																				0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		35	43	0	0	0	1	0	35	43				
CAMSAP2	23271	broad.mit.edu	37	1	200801338	200801338	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200801338G>A	ENST00000236925.4	+	6	738	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R219Q|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R219Q			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	230	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GCTCGTTATCGGAAAGAGCAA	0.348																																						ENST00000358823.2																			0											c.(655-657)cGg>cAg		calmodulin regulated spectrin-associated protein family, member 2							148.0	138.0	142.0					1																	200801338		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200801338G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.689G>A	1.37:g.200801338G>A	ENSP00000236925:p.Arg230Gln					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R219Q|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.R230Q	p.R219Q	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			5	926	+			230			CH.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.656G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.543668	0.96474	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.25250	2.07;2.13;1.81	5.38	5.38	0.77491	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.975	T	0.58891	-0.7556	10	0.66056	D	0.02	-23.9516	19.3031	0.94150	0.0:0.0:1.0:0.0	.	219;230;219	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	Q	219;219;230	ENSP00000351684:R219Q;ENSP00000416800:R219Q;ENSP00000236925:R230Q	ENSP00000236925:R230Q	R	+	2	0	CAMSAP1L1	199067961	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.240000	0.95396	2.800000	0.96347	0.591000	0.81541	CGG		0.348	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		20	37	0	0	0	1	0	20	37				
FAM175A	84142	broad.mit.edu	37	4	84383731	84383731	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383731G>T	ENST00000321945.7	-	9	1229	c.1121C>A	c.(1120-1122)aCt>aAt	p.T374N	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.T325N	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	374					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ACTACTACCAGTATCTGCTTT	0.383																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(1120-1122)aCt>aAt		family with sequence similarity 175, member A							236.0	219.0	225.0					4																	84383731		2203	4300	6503	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84383731G>T	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.1121C>A	4.37:g.84383731G>T	ENSP00000369857:p.Thr374Asn					MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.T325N	p.T374N	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			9	1229	-			374					A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.1121C>A	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999968	0.35320	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.43294	0.95;0.95	5.61	-0.0984	0.13628	.	1.185890	0.05709	N	0.595648	T	0.29093	0.0723	L	0.36672	1.1	0.09310	N	1	B	0.26195	0.144	B	0.25405	0.06	T	0.19910	-1.0291	10	0.18276	T	0.48	-30.9147	4.1827	0.10383	0.1452:0.1844:0.5316:0.1388	.	374	Q6UWZ7	F175A_HUMAN	N	374;325	ENSP00000369857:T374N;ENSP00000426763:T325N	ENSP00000369857:T374N	T	-	2	0	FAM175A	84602755	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	0.165000	0.16564	0.020000	0.15106	0.644000	0.83932	ACT		0.383	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		69	116	1	0	5.98616e-33	1	8.0378e-33	69	116				
SLTM	79811	broad.mit.edu	37	15	59185096	59185096	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59185096C>A	ENST00000380516.2	-	14	1985	c.1898G>T	c.(1897-1899)aGa>aTa	p.R633I	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Splice_Site_p.R202I	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	633	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTCCTACCTTCGAAGTTC	0.358																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e14+1		SAFB-like, transcription modulator							132.0	133.0	133.0					15																	59185096		2192	4292	6484	SO:0001630	splice_region_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59185096C>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1898+1G>T	15.37:g.59185096C>A						AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Splice_Site_p.R202_splice	p.R633_splice	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			14	1985	-			633			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000380516.2	37	c.1898_splice	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662600	0.67700	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.22945	1.93	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000005	T	0.41673	0.1169	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.06320	-1.0833	9	.	.	.	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	633;202	Q9NWH9;A8K5V8	SLTM_HUMAN;.	I	633;199;202	ENSP00000369887:R633I	.	R	-	2	0	SLTM	56972388	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	5.691000	0.68249	2.722000	0.93159	0.650000	0.86243	AGA		0.358	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	Missense_Mutation	9	84	1	0	0.00621372	1	0.00652201	9	84				
ZNF529	57711	broad.mit.edu	37	19	37038361	37038361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038361C>T	ENST00000591340.1	-	5	1257	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	ZNF529_ENST00000334116.7_Missense_Mutation_p.A262T	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					TCCTTACATGCATAAGGTTTC	0.403																																						ENST00000334116.7																			0				breast(1)	1						c.(784-786)Gca>Aca		zinc finger protein 529							63.0	70.0	67.0					19																	37038361		2193	4297	6490	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038361C>T	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1099G>A	19.37:g.37038361C>T	ENSP00000465578:p.Ala367Thr					ZNF529_ENST00000591340.1_Missense_Mutation_p.A367T	p.A262T	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN			6	1394	-	Esophageal squamous(110;0.198)		334					K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.784G>A	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680491	0.47886	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.19	-1.88	0.07713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16727	0.0402	N	0.11284	0.12	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20338	-1.0278	8	0.59425	D	0.04	.	4.5076	0.11896	0.161:0.3107:0.0:0.5283	.	262;334	Q6P280-2;Q6P280	.;ZN529_HUMAN	T	367	.	ENSP00000334695:A367T	A	-	1	0	ZNF529	41730201	0.000000	0.05858	0.832000	0.32986	0.976000	0.68499	-3.468000	0.00461	-0.184000	0.10567	-0.229000	0.12294	GCA		0.403	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		5	97	0	0	0	1	0	5	97				
SUPT5H	6829	broad.mit.edu	37	19	39959494	39959494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39959494C>T	ENST00000599117.1	+	15	1503	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	SUPT5H_ENST00000402194.2_Missense_Mutation_p.S375F|SUPT5H_ENST00000598725.1_Missense_Mutation_p.S379F|SUPT5H_ENST00000359191.6_Missense_Mutation_p.S375F|SUPT5H_ENST00000432763.2_Missense_Mutation_p.S379F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	379	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCATGTCTGCTGTGGTG	0.572																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1135-1137)tCt>tTt		suppressor of Ty 5 homolog (S. cerevisiae)							80.0	77.0	78.0					19																	39959494		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39959494C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1136C>T	19.37:g.39959494C>T	ENSP00000470252:p.Ser379Phe					SUPT5H_ENST00000359191.6_Missense_Mutation_p.S375F|SUPT5H_ENST00000432763.2_Missense_Mutation_p.S379F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.S375F|SUPT5H_ENST00000598725.1_Missense_Mutation_p.S379F	p.S379F			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		15	1503	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		379			Interaction with RNA polymerase II.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.1136C>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897688	0.91962	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	M	0.86953	2.85	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.995	D;D;D	0.69479	0.931;0.964;0.921	D	0.85842	0.1398	8	.	.	.	-10.0201	17.7775	0.88514	0.0:1.0:0.0:0.0	.	171;375;379	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	F	379;375;357;379	.	.	S	+	2	0	SUPT5H	44651334	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.645000	0.83430	2.512000	0.84698	0.557000	0.71058	TCT		0.572	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		18	36	0	0	0	1	0	18	36				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100575	89100575	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89100575G>T	ENST00000393525.3	+	0	1089									ankyrin repeat domain 36B pseudogene 2																		TAAAAGGAAAGATTTTGTCAA	0.328																																						ENST00000393525.3																			0																																																			0							g.chr2:89100575G>T			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100575G>T														0	1089	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.328	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			9	52	1	0	0.0477658	1	0.0488009	9	52				
SLC35D1	23169	broad.mit.edu	37	1	67513002	67513002	+	Silent	SNP	G	G	A	rs371167014		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67513002G>A	ENST00000235345.5	-	7	667	c.582C>T	c.(580-582)aaC>aaT	p.N194N	SLC35D1_ENST00000506472.2_Silent_p.N115N	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	194					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TTAGGACATCGTTTATCAGAA	0.338																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(580-582)aaC>aaT		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)	G		1,4405	2.1+/-5.4	0,1,2202	151.0	140.0	143.0		582	-4.0	1.0	1		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35D1	NM_015139.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		194/356	67513002	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67513002G>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.582C>T	1.37:g.67513002G>A						SLC35D1_ENST00000506472.2_Silent_p.N115N	p.N194N	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			7	667	-			194					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.582C>T	CCDS636.1																																																																																				0.338	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		25	31	0	0	0	1	0	25	31				
STAT1	6772	broad.mit.edu	37	2	191862734	191862734	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191862734C>T	ENST00000361099.3	-	9	1021		c.e9-1		STAT1_ENST00000392322.3_Splice_Site|STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000540176.1_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GAACTACTTCCTAAAGGCAAT	0.313																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e9-1		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						61.0	59.0	60.0					2																	191862734		2203	4300	6503	SO:0001630	splice_region_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862734C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.634-1G>A	2.37:g.191862734C>T						STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000392322.3_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000409465.1_Splice_Site		NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		9	1021	-								A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Splice_Site	SNP	ENST00000361099.3	37		CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184892	0.57909	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000544783	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1174	0.93346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT1	191570979	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	7.320000	0.79064	2.746000	0.94184	0.655000	0.94253	.		0.313	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	Intron	4	49	0	0	0	1	0	4	49				
CDK11B	984	broad.mit.edu	37	1	1575652	1575652	+	Missense_Mutation	SNP	G	G	T	rs369699548		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1575652G>T	ENST00000407249.3	-	12	1245	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M	CDK11B_ENST00000340677.5_Missense_Mutation_p.L403M|CDK11B_ENST00000317673.7_Missense_Mutation_p.L414M|CDK11B_ENST00000341832.6_Missense_Mutation_p.L369M			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	426					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						AGGGCCGGCAGGTACTTGGGC	0.682																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1246-1248)Ctg>Atg		cyclin-dependent kinase 11B							32.0	40.0	37.0					1																	1575652		1955	4137	6092	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1575652G>T	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1246C>A	1.37:g.1575652G>T	ENSP00000464036:p.Leu416Met					CDK11B_ENST00000341832.6_Missense_Mutation_p.L369M|CDK11B_ENST00000317673.7_Missense_Mutation_p.L414M|CDK11B_ENST00000340677.5_Missense_Mutation_p.L403M	p.L416M			P21127	CD11B_HUMAN			12	1245	-			426					O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	ENST00000407249.3	37	c.1246C>A																																																																																					0.682	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		14	15	1	0	8.34094e-07	1	9.69005e-07	14	15				
MGAT2	4247	broad.mit.edu	37	14	50088095	50088095	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50088095C>A	ENST00000305386.2	+	1	607	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	37					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACGAGGCCCTCGCCCCACC	0.682																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(109-111)Ctc>Atc		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							15.0	17.0	16.0					14																	50088095		2201	4296	6497	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088095C>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.109C>A	14.37:g.50088095C>A	ENSP00000307423:p.Leu37Ile					RP11-649E7.5_ENST00000555043.1_RNA	p.L37I	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	607	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		37					B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.109C>A	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455797	0.43634	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88586	-2.4	5.88	3.85	0.44370	.	0.332965	0.26847	N	0.022188	T	0.73822	0.3636	N	0.14661	0.345	0.28249	N	0.925365	B	0.30406	0.278	B	0.21360	0.034	T	0.63717	-0.6574	10	0.30854	T	0.27	-10.4428	4.7231	0.12927	0.0:0.6095:0.0:0.3905	.	37	Q10469	MGAT2_HUMAN	I	37;43	ENSP00000307423:L37I	ENSP00000307423:L37I	L	+	1	0	MGAT2	49157845	0.978000	0.34361	1.000000	0.80357	0.968000	0.65278	0.303000	0.19210	1.510000	0.48803	0.650000	0.86243	CTC		0.682	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		8	10	1	0	5.18039e-06	1	5.91835e-06	8	10				
SCN10A	6336	broad.mit.edu	37	3	38739839	38739839	+	Silent	SNP	G	G	A	rs149642957	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739839G>A	ENST00000449082.2	-	27	4871	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1624					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGGACATACCGAAGATAGAGT	0.527													G|||	3	0.000599042	0.0	0.0	5008	,	,		21195	0.001		0.0	False		,,,				2504	0.002					ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4870-4872)ttC>ttT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G		8,4398	14.3+/-33.2	0,8,2195	182.0	168.0	173.0		4872	2.7	1.0	3	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous	SCN10A	NM_006514.2		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		1624/1957	38739839	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739839G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4872C>T	3.37:g.38739839G>A							p.F1624F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4871	-			1624					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4872C>T	CCDS33736.1																																																																																				0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		10	102	0	0	0	1	0	10	102				
PRKDC	5591	broad.mit.edu	37	8	48715981	48715981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715981C>A	ENST00000314191.2	-	71	9861	c.9805G>T	c.(9805-9807)Gac>Tac	p.D3269Y	Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000338368.3_Missense_Mutation_p.D3269Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3270	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCCAATCGTCTCTGGTTTTT	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(9805-9807)Gac>Tac	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							109.0	114.0	113.0					8																	48715981		1966	4164	6130	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48715981C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9805G>T	8.37:g.48715981C>A	ENSP00000313420:p.Asp3269Tyr					PRKDC_ENST00000338368.3_Missense_Mutation_p.D3269Y|PRKDC_ENST00000523565.1_5'UTR	p.D3269Y	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			71	9861	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3270			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.9805G>T		.	.	.	.	.	.	.	.	.	.	C	12.12	1.842906	0.32606	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70516	-0.49;-0.49	5.43	3.55	0.40652	PIK-related kinase (1);PIK-related kinase, FAT (1);	1.163670	0.06153	N	0.674440	T	0.80523	0.4639	M	0.61703	1.905	0.09310	N	1	B;P	0.51791	0.071;0.948	B;P	0.57776	0.086;0.827	T	0.62868	-0.6763	10	0.66056	D	0.02	.	10.9911	0.47549	0.0:0.7992:0.1299:0.0709	.	3269;3270	E7EUY0;P78527	.;PRKDC_HUMAN	Y	3269	ENSP00000313420:D3269Y;ENSP00000345182:D3269Y	ENSP00000313420:D3269Y	D	-	1	0	PRKDC	48878534	0.566000	0.26618	0.001000	0.08648	0.069000	0.16628	2.340000	0.43974	0.604000	0.29930	0.655000	0.94253	GAC		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		9	89	1	0	2.17888e-05	1	2.45068e-05	9	89				
WDR63	126820	broad.mit.edu	37	1	85559185	85559185	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85559185T>G	ENST00000294664.6	+	9	1082	c.902T>G	c.(901-903)aTt>aGt	p.I301S	WDR63_ENST00000370596.1_Missense_Mutation_p.I262S|WDR63_ENST00000326813.8_Missense_Mutation_p.I262S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	301										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACACATTTATTGATGACTGG	0.373																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(901-903)aTt>aGt		WD repeat domain 63							126.0	120.0	122.0					1																	85559185		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85559185T>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.902T>G	1.37:g.85559185T>G	ENSP00000294664:p.Ile301Ser					WDR63_ENST00000370596.1_Missense_Mutation_p.I262S|WDR63_ENST00000326813.8_Missense_Mutation_p.I262S	p.I301S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1082	+			301					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.902T>G	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	4.253	0.045922	0.08243	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.43688	1.02;1.02;0.94	5.72	0.187	0.15109	.	1.378600	0.04066	N	0.307182	T	0.07324	0.0185	N	0.20401	0.57	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.12156	0.007;0.005	T	0.10291	-1.0636	10	0.06891	T	0.86	-6.9182	4.2526	0.10702	0.3068:0.1945:0.0:0.4987	.	262;301	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	S	262;262;301	ENSP00000359628:I262S;ENSP00000317463:I262S;ENSP00000294664:I301S	ENSP00000294664:I301S	I	+	2	0	WDR63	85331773	0.001000	0.12720	0.039000	0.18376	0.783000	0.44284	0.669000	0.25142	0.057000	0.16193	0.477000	0.44152	ATT		0.373	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		9	140	0	0	0	1	0	9	140				
NOL6	65083	broad.mit.edu	37	9	33466321	33466321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33466321C>T	ENST00000379471.2	-	17	2281	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	NOL6_ENST00000455041.2_Missense_Mutation_p.V680M|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	732					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATGGGCTCCACGTAGGCCGGA	0.612											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2194-2196)Gtg>Atg		nucleolar protein 6 (RNA-associated)							80.0	84.0	82.0					9																	33466321		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33466321C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2194G>A	9.37:g.33466321C>T	ENSP00000368784:p.Val732Met		OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.V680M	p.V732M			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	17	2281	-			732					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2194G>A		.	.	.	.	.	.	.	.	.	.	C	13.32	2.202412	0.38905	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.42513	0.97;0.97;0.97	5.0	5.0	0.66597	.	0.166220	0.52532	D	0.000072	T	0.56077	0.1961	L	0.57536	1.79	0.42711	D	0.993641	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.69824	0.966;0.943;0.921;0.966	T	0.52808	-0.8526	10	0.36615	T	0.2	.	10.7166	0.46015	0.0:0.9052:0.0:0.0948	.	680;729;732;732	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	M	732;732;288;732;680	ENSP00000297990:V732M;ENSP00000368784:V732M;ENSP00000395915:V680M	ENSP00000297990:V732M	V	-	1	0	NOL6	33456321	0.969000	0.33509	0.998000	0.56505	0.076000	0.17211	2.067000	0.41461	2.595000	0.87683	0.655000	0.94253	GTG		0.612	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		7	76	0	0	0	1	0	7	76				
RXFP1	59350	broad.mit.edu	37	4	159533502	159533502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159533502C>T	ENST00000307765.5	+	8	919	c.668C>T	c.(667-669)tCt>tTt	p.S223F	RXFP1_ENST00000448688.2_Missense_Mutation_p.S142F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	223					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.S223Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274																																						ENST00000307765.5																			1	Substitution - Missense(1)	p.S223Y(1)	large_intestine(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(667-669)tCt>tTt		relaxin/insulin-like family peptide receptor 1							62.0	58.0	59.0					4																	159533502		1786	4060	5846	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159533502C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.668C>T	4.37:g.159533502C>T	ENSP00000303248:p.Ser223Phe					RXFP1_ENST00000448688.2_Missense_Mutation_p.S142F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190F	p.S223F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	8	919	+	all_hematologic(180;0.24)	Renal(120;0.0854)	223					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.668C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938269	0.73557	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.85258	3.43;3.43;4.09;-1.96;3.43	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.64260	1.97	0.45594	D	0.99853	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.97;0.997;0.999;1.0;1.0;1.0	D;D;D;P;D;D;D;D;D	0.97110	0.989;0.999;0.989;0.819;0.982;0.993;0.996;1.0;1.0	D	0.90423	0.4418	10	0.72032	D	0.01	.	11.5346	0.50631	0.0:0.9161:0.0:0.0839	.	234;250;142;223;190;142;93;160;223	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	F	142;223;142;223;190;93	ENSP00000423306:S142F;ENSP00000303248:S223F;ENSP00000414885:S142F;ENSP00000345889:S223F;ENSP00000420712:S190F	ENSP00000303248:S223F	S	+	2	0	RXFP1	159752952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.409000	0.59768	2.624000	0.88883	0.655000	0.94253	TCT		0.274	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		11	14	0	0	0	1	0	11	14				
ABCE1	6059	broad.mit.edu	37	4	146042358	146042358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146042358G>A	ENST00000296577.4	+	12	1692	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	393	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CAGAATGCTTGCTGGAAGACT	0.363																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(1177-1179)Gct>Act		ATP-binding cassette, sub-family E (OABP), member 1							178.0	171.0	174.0					4																	146042358		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146042358G>A	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1177G>A	4.37:g.146042358G>A	ENSP00000296577:p.Ala393Thr					ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	p.A393T	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			12	1692	+	all_hematologic(180;0.151)		393			ABC transporter 2.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.1177G>A	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723815	0.89298	.	.	ENSG00000164163	ENST00000296577	D	0.93953	-3.32	4.85	4.85	0.62838	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96021	0.8704	M	0.68317	2.08	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.96319	0.9235	10	0.62326	D	0.03	-16.2153	17.3185	0.87230	0.0:0.0:1.0:0.0	.	393	P61221	ABCE1_HUMAN	T	393	ENSP00000296577:A393T	ENSP00000296577:A393T	A	+	1	0	ABCE1	146261808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.376000	0.81061	0.650000	0.86243	GCT		0.363	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		6	118	0	0	0	1	0	6	118				
TLR3	7098	broad.mit.edu	37	4	187004162	187004162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004162A>C	ENST00000296795.3	+	4	1426	c.1322A>C	c.(1321-1323)aAt>aCt	p.N441T	TLR3_ENST00000504367.1_Missense_Mutation_p.N164T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	441					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGCCTTAATGAAATTGGG	0.418																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1321-1323)aAt>aCt		toll-like receptor 3							64.0	60.0	61.0					4																	187004162		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004162A>C	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1322A>C	4.37:g.187004162A>C	ENSP00000296795:p.Asn441Thr					TLR3_ENST00000504367.1_Missense_Mutation_p.N164T	p.N441T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1426	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	441					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.1322A>C	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	16.01	2.999977	0.54147	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.67171	-0.25;-0.25	5.78	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	H	0.98218	4.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.91061	0.4885	10	0.87932	D	0	.	12.9693	0.58503	0.8648:0.1352:0.0:0.0	.	441	O15455	TLR3_HUMAN	T	441;441;164	ENSP00000296795:N441T;ENSP00000423684:N164T	ENSP00000296795:N441T	N	+	2	0	TLR3	187241156	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	9.300000	0.96151	0.984000	0.38629	0.455000	0.32223	AAT		0.418	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			4	60	0	0	0	1	0	4	60				
ABCA4	24	broad.mit.edu	37	1	94467503	94467503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94467503C>T	ENST00000370225.3	-	45	6279	c.6193G>A	c.(6193-6195)Gac>Aac	p.D2065N	ABCA4_ENST00000536513.1_Missense_Mutation_p.D335N|ABCA4_ENST00000535881.1_Missense_Mutation_p.D184N|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2065	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCCAGGCAGTCGGCGTAGACA	0.562																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6193-6195)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 4							82.0	77.0	79.0					1																	94467503		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94467503C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6193G>A	1.37:g.94467503C>T	ENSP00000359245:p.Asp2065Asn					ABCA4_ENST00000536513.1_Missense_Mutation_p.D335N|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Missense_Mutation_p.D184N	p.D2065N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	45	6279	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2065			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6193G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561792	0.86335	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.96491	-4.03;-4.03;-4.03	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.180201	0.52532	D	0.000069	D	0.92381	0.7582	N	0.16166	0.38	0.80722	D	1	P;P	0.48694	0.523;0.914	B;P	0.47626	0.1;0.552	D	0.93567	0.6900	10	0.54805	T	0.06	.	19.4924	0.95056	0.0:1.0:0.0:0.0	.	184;2065	B4DX12;P78363	.;ABCA4_HUMAN	N	857;2065;335;184	ENSP00000359245:D2065N;ENSP00000439707:D335N;ENSP00000443203:D184N	ENSP00000359245:D2065N	D	-	1	0	ABCA4	94240091	1.000000	0.71417	0.951000	0.38953	0.946000	0.59487	4.822000	0.62686	2.605000	0.88082	0.655000	0.94253	GAC		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		37	28	0	0	0	1	0	37	28				
FOXL1	2300	broad.mit.edu	37	16	86612511	86612511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86612511C>T	ENST00000320241.3	+	1	397	c.182C>T	c.(181-183)gCg>gTg	p.A61V		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	61					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ATCGCCATGGCGATCCAGGAC	0.672																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(181-183)gCg>gTg		forkhead box L1							64.0	65.0	65.0					16																	86612511		2198	4300	6498	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612511C>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.182C>T	16.37:g.86612511C>T	ENSP00000326272:p.Ala61Val						p.A61V	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	397	+			61					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.182C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701880	0.88924	.	.	ENSG00000176678	ENST00000320241	D	0.96913	-4.17	3.73	3.73	0.42828	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98305	0.9438	M	0.92026	3.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.99368	1.0919	10	0.87932	D	0	.	14.6779	0.68996	0.0:1.0:0.0:0.0	.	61	Q12952	FOXL1_HUMAN	V	61	ENSP00000326272:A61V	ENSP00000326272:A61V	A	+	2	0	FOXL1	85170012	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	7.422000	0.80217	1.930000	0.55929	0.313000	0.20887	GCG		0.672	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		25	30	0	0	0	1	0	25	30				
ODC1	4953	broad.mit.edu	37	2	10580867	10580867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10580867C>T	ENST00000234111.4	-	12	1879	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	ODC1_ENST00000405333.1_Missense_Mutation_p.A457T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	457					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TTAATACTAGCCGAAGCACAG	0.493																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(1369-1371)Gct>Act		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						88.0	83.0	85.0					2																	10580867		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10580867C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1369G>A	2.37:g.10580867C>T	ENSP00000234111:p.Ala457Thr					ODC1_ENST00000405333.1_Missense_Mutation_p.A457T	p.A457T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	12	1879	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		457					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.1369G>A	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313827	0.40996	.	.	ENSG00000115758	ENST00000234111;ENST00000405333	T;T	0.46451	0.87;0.87	5.88	3.15	0.36227	.	0.539099	0.22821	N	0.055235	T	0.38878	0.1057	L	0.56769	1.78	0.29888	N	0.825467	B	0.02656	0.0	B	0.04013	0.001	T	0.38090	-0.9677	10	0.59425	D	0.04	.	10.9923	0.47557	0.0:0.8:0.0:0.2	.	457	P11926	DCOR_HUMAN	T	457	ENSP00000234111:A457T;ENSP00000385333:A457T	ENSP00000234111:A457T	A	-	1	0	ODC1	10498318	0.021000	0.18746	0.006000	0.13384	0.927000	0.56198	0.142000	0.16096	0.412000	0.25729	0.591000	0.81541	GCT		0.493	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			20	48	0	0	0	1	0	20	48				
KRT16	3868	broad.mit.edu	37	17	39766626	39766626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766626C>T	ENST00000301653.4	-	6	1301	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	413	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGGCAATCTCCTGCTCCAGC	0.637																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1237-1239)Gag>Aag		keratin 16							67.0	66.0	66.0					17																	39766626		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39766626C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1237G>A	17.37:g.39766626C>T	ENSP00000301653:p.Glu413Lys						p.E413K	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			6	1301	-		Breast(137;0.000307)	413			Coil 2.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.1237G>A	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513581	0.96402	.	.	ENSG00000186832	ENST00000301653	D	0.96774	-4.12	4.09	4.09	0.47781	Filament (1);	0.000000	0.49916	D	0.000128	D	0.98429	0.9477	H	0.97707	4.06	0.80722	D	1	D	0.55172	0.97	P	0.54924	0.764	D	0.99841	1.1062	10	0.72032	D	0.01	.	16.8572	0.86009	0.0:1.0:0.0:0.0	.	413	P08779	K1C16_HUMAN	K	413	ENSP00000301653:E413K	ENSP00000301653:E413K	E	-	1	0	KRT16	37020152	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.651000	0.83577	2.278000	0.76064	0.462000	0.41574	GAG		0.637	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		26	53	0	0	0	1	0	26	53				
WDR75	84128	broad.mit.edu	37	2	190338996	190338996	+	Missense_Mutation	SNP	G	G	A	rs116046757	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190338996G>A	ENST00000314761.4	+	19	2194	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	712						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAACTAAACGAAACTTTAGA	0.363													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		18754	0.0		0.001	False		,,,				2504	0.0					ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(2134-2136)Gaa>Aaa		WD repeat domain 75		G	LYS/GLU	12,4394	19.1+/-41.9	0,12,2191	124.0	123.0	123.0		2134	5.1	0.0	2	dbSNP_132	123	0,8600		0,0,4300	yes	missense	WDR75	NM_032168.1	56	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	benign	712/831	190338996	12,12994	2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190338996G>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2134G>A	2.37:g.190338996G>A	ENSP00000314193:p.Glu712Lys						p.E712K	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		19	2194	+			712					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.2134G>A	CCDS2298.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	1.747	-0.490139	0.04322	0.002724	0.0	ENSG00000115368	ENST00000314761	T	0.61274	0.12	5.93	5.06	0.68205	.	0.762779	0.13382	N	0.392053	T	0.43255	0.1239	L	0.44542	1.39	0.09310	N	1	B;B	0.29341	0.242;0.242	B;B	0.15870	0.014;0.014	T	0.27806	-1.0063	10	0.09843	T	0.71	-4.3342	9.4256	0.38578	0.0737:0.0:0.7758:0.1505	.	712;712	A8K330;Q8IWA0	.;WDR75_HUMAN	K	712	ENSP00000314193:E712K	ENSP00000314193:E712K	E	+	1	0	WDR75	190047241	0.000000	0.05858	0.005000	0.12908	0.059000	0.15707	0.373000	0.20484	1.538000	0.49270	0.655000	0.94253	GAA		0.363	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		58	67	0	0	0	1	0	58	67				
NUP153	9972	broad.mit.edu	37	6	17706523	17706523	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17706523C>T	ENST00000262077.2	-	1	95	c.96G>A	c.(94-96)ggG>ggA	p.G32G	NUP153_ENST00000537253.1_Silent_p.G32G|RP11-500C11.3_ENST00000606771.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	32					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGTTGTCGCCCCTGCTGGT	0.726																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(94-96)ggG>ggA		nucleoporin 153kDa							69.0	58.0	62.0					6																	17706523		2202	4299	6501	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17706523C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.96G>A	6.37:g.17706523C>T						NUP153_ENST00000537253.1_Silent_p.G32G|RP11-500C11.3_ENST00000606771.1_RNA	p.G32G	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		1	95	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	32					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.96G>A	CCDS4541.1																																																																																				0.726	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			7	16	0	0	0	1	0	7	16				
INADL	10207	broad.mit.edu	37	1	62550226	62550226	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62550226G>A	ENST00000371158.2	+	33	4397	c.4283G>A	c.(4282-4284)tGt>tAt	p.C1428Y	INADL_ENST00000543708.1_Missense_Mutation_p.C212Y|INADL_ENST00000316485.6_Missense_Mutation_p.C1428Y|INADL_ENST00000545929.1_Missense_Mutation_p.C101Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1428					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCCGCAACGTGTCCCATTGTC	0.507																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4282-4284)tGt>tAt		InaD-like (Drosophila)							95.0	88.0	91.0					1																	62550226		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62550226G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4283G>A	1.37:g.62550226G>A	ENSP00000360200:p.Cys1428Tyr					INADL_ENST00000545929.1_Missense_Mutation_p.C101Y|INADL_ENST00000543708.1_Missense_Mutation_p.C212Y|INADL_ENST00000316485.6_Missense_Mutation_p.C1428Y	p.C1428Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			33	4397	+			1428					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4283G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144296	0.57044	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	T;T;T;T	0.23147	2.36;2.02;1.92;2.36	5.02	5.02	0.67125	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000001	T	0.53367	0.1792	M	0.77313	2.365	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.984;0.997;0.996;0.997;0.998	T	0.51140	-0.8743	10	0.33940	T	0.23	.	18.6965	0.91603	0.0:0.0:1.0:0.0	.	101;212;887;1428;1428;1428	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	Y	1428;1428;1428;1428;212;101	ENSP00000360200:C1428Y;ENSP00000326199:C1428Y;ENSP00000445790:C212Y;ENSP00000440094:C101Y	ENSP00000326199:C1428Y	C	+	2	0	INADL	62322814	1.000000	0.71417	0.985000	0.45067	0.260000	0.26232	8.067000	0.89488	2.477000	0.83638	0.655000	0.94253	TGT		0.507	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		4	65	0	0	0	1	0	4	65				
GEN1	348654	broad.mit.edu	37	2	17946245	17946245	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946245G>A	ENST00000381254.2	+	4	644	c.430G>A	c.(430-432)Gct>Act	p.A144T	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.A144T	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	144	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTCAATGCTGGTGGTCA	0.473								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(430-432)Gct>Act	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							194.0	170.0	178.0					2																	17946245		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17946245G>A	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.430G>A	2.37:g.17946245G>A	ENSP00000370653:p.Ala144Thr					SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.A144T	p.A144T	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			4	644	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		144			I-domain.		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.430G>A	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949768	0.53186	.	.	ENSG00000178295	ENST00000317402;ENST00000381254	T;T	0.70399	-0.48;-0.48	5.71	5.71	0.89125	XPG/RAD2 endonuclease (2);	0.169665	0.38548	N	0.001648	T	0.70649	0.3248	L	0.42245	1.32	0.35937	D	0.832963	P	0.45634	0.863	P	0.49140	0.601	T	0.76214	-0.3041	10	0.42905	T	0.14	-20.4965	14.0549	0.64761	0.0718:0.0:0.9282:0.0	.	144	Q17RS7	GEN_HUMAN	T	144	ENSP00000318977:A144T;ENSP00000370653:A144T	ENSP00000318977:A144T	A	+	1	0	GEN1	17809726	1.000000	0.71417	0.429000	0.26710	0.137000	0.21094	4.690000	0.61731	2.701000	0.92244	0.563000	0.77884	GCT		0.473	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		33	60	0	0	0	1	0	33	60				
CDKN2AIP	55602	broad.mit.edu	37	4	184367411	184367411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184367411C>T	ENST00000504169.1	+	3	781	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(574-576)Cgg>Tgg		CDKN2A interacting protein							91.0	90.0	90.0					4																	184367411		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367411C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.574C>T	4.37:g.184367411C>T	ENSP00000427108:p.Arg192Trp					CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.R192W	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	781	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	192			Ser-rich.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.574C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	1.614	-0.523358	0.04141	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.55	1.97	0.26223	.	1.079580	0.07137	N	0.846605	T	0.28101	0.0693	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27365	-1.0076	9	0.56958	D	0.05	3.1821	5.6624	0.17676	0.138:0.6371:0.0:0.225	.	192	Q9NXV6	CARF_HUMAN	W	192	.	ENSP00000427108:R192W	R	+	1	2	CDKN2AIP	184604405	0.232000	0.23762	0.003000	0.11579	0.019000	0.09904	0.154000	0.16343	0.164000	0.19529	-0.122000	0.15005	CGG		0.512	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		19	30	0	0	0	1	0	19	30				
SIGIRR	59307	broad.mit.edu	37	11	408207	408207	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:408207C>A	ENST00000431843.2	-	4	513		c.e4-1		SIGIRR_ENST00000382520.2_Splice_Site|SIGIRR_ENST00000397632.3_Splice_Site|SIGIRR_ENST00000332725.3_Splice_Site|SIGIRR_ENST00000529486.1_Splice_Site|SIGIRR_ENST00000531205.1_Splice_Site	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain						acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCTTGACCCTGGGGATACC	0.612																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.e4-1		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							86.0	82.0	84.0					11																	408207		2203	4299	6502	SO:0001630	splice_region_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408207C>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.207-1G>T	11.37:g.408207C>A						SIGIRR_ENST00000382520.2_Splice_Site|SIGIRR_ENST00000397632.3_Splice_Site|SIGIRR_ENST00000531205.1_Splice_Site|SIGIRR_ENST00000529486.1_Splice_Site|SIGIRR_ENST00000332725.3_Splice_Site		NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	513	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						Q3KQY2|Q6UXI3|Q9H733	Splice_Site	SNP	ENST00000431843.2	37		CCDS31325.1	.	.	.	.	.	.	.	.	.	.	C	0.777	-0.763831	0.02996	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8552	0.08973	0.2406:0.6321:0.0:0.1273	.	.	.	.	.	-1	.	.	.	-	.	.	SIGIRR	398207	0.968000	0.33430	0.637000	0.29366	0.035000	0.12851	2.135000	0.42112	1.988000	0.58038	0.305000	0.20034	.		0.612	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805	Intron	31	56	1	0	5.43694e-19	1	7.10666e-19	31	56				
PLSCR1	5359	broad.mit.edu	37	3	146239443	146239443	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146239443G>T	ENST00000342435.4	-	7	1036	c.626C>A	c.(625-627)aCt>aAt	p.T209N	PLSCR1_ENST00000487389.1_Missense_Mutation_p.T202N|PLSCR1_ENST00000448787.2_Missense_Mutation_p.T128N|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	209					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGGTGCCAAGTCTGAATAAC	0.358																																						ENST00000342435.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(625-627)aCt>aAt		phospholipid scramblase 1							142.0	140.0	141.0					3																	146239443		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146239443G>T	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.626C>A	3.37:g.146239443G>T	ENSP00000345494:p.Thr209Asn					PLSCR1_ENST00000487389.1_Missense_Mutation_p.T202N|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Missense_Mutation_p.T128N	p.T209N	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN			7	1036	-			209					B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.626C>A	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.882|5.882	0.346872|0.346872	0.11126|0.11126	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000483300|ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666;ENST00000486631;ENST00000472349	.|T;T;T;T;T;T	.|0.22336	.|1.96;1.96;1.96;1.96;1.96;1.96	5.18|5.18	-9.59|-9.59	0.00556|0.00556	.|.	.|1.564590	.|0.05554	.|N	.|0.567989	T|T	0.07773|0.07773	0.0195|0.0195	N|N	0.04724|0.04724	-0.175|-0.175	0.23036|0.23036	N|N	0.998392|0.998392	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.15484	.|0.01;0.013	T|T	0.33803|0.33803	-0.9854|-0.9854	5|10	.|0.15952	.|T	.|0.53	.|.	9.4942|9.4942	0.38978|0.38978	0.1793:0.0:0.2292:0.5915|0.1793:0.0:0.2292:0.5915	.|.	.|128;209	.|B4DTE8;O15162	.|.;PLS1_HUMAN	I|N	76|209;202;128;185;128;209	.|ENSP00000345494:T209N;ENSP00000417792:T202N;ENSP00000411675:T128N;ENSP00000418103:T185N;ENSP00000418550:T128N;ENSP00000420523:T209N	.|ENSP00000345494:T209N	L|T	-|-	1|2	0|0	PLSCR1|PLSCR1	147722133|147722133	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.546000|0.546000	0.35178|0.35178	-0.221000|-0.221000	0.09202|0.09202	-1.590000|-1.590000	0.01623|0.01623	-0.169000|-0.169000	0.13324|0.13324	CTT|ACT		0.358	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		32	32	1	0	4.31634e-10	1	5.29815e-10	32	32				
AADACL2	344752	broad.mit.edu	37	3	151475308	151475308	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151475308A>T	ENST00000356517.3	+	5	1241	c.1132A>T	c.(1132-1134)Act>Tct	p.T378S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	378						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCATTCATGACTTCACCATT	0.338																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(1132-1134)Act>Tct		arylacetamide deacetylase-like 2							87.0	89.0	88.0					3																	151475308		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475308A>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1132A>T	3.37:g.151475308A>T	ENSP00000348911:p.Thr378Ser					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.T378S	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1241	+			378					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.1132A>T	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	A	3.858	-0.030408	0.07543	.	.	ENSG00000197953	ENST00000356517	T	0.58358	0.34	5.15	-3.31	0.04988	.	0.514947	0.22399	N	0.060563	T	0.21881	0.0527	N	0.12961	0.28	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.31166	-0.9953	10	0.02654	T	1	-12.7312	4.9357	0.13939	0.4468:0.0:0.3342:0.219	.	378	Q6P093	ADCL2_HUMAN	S	378	ENSP00000348911:T378S	ENSP00000348911:T378S	T	+	1	0	AADACL2	152957998	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-0.260000	0.08708	-0.768000	0.04626	0.482000	0.46254	ACT		0.338	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		43	68	0	0	0	1	0	43	68				
PDE5A	8654	broad.mit.edu	37	4	120528342	120528342	+	Missense_Mutation	SNP	C	C	T	rs150282561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120528342C>T	ENST00000354960.3	-	2	582	c.263G>A	c.(262-264)cGt>cAt	p.R88H	PDE5A_ENST00000264805.5_Missense_Mutation_p.R46H|PDE5A_ENST00000394439.1_Missense_Mutation_p.R36H	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	88					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTTATCTGCACGAGGACTCTG	0.507													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18913	0.001		0.0	False		,,,				2504	0.0					ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(262-264)cGt>cAt		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	C	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	87.0	85.0	86.0		263,137,107	3.9	0.9	4	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PDE5A	NM_001083.3,NM_033430.2,NM_033437.3	29,29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign,benign	88/876,46/834,36/824	120528342	3,13003	2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120528342C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.263G>A	4.37:g.120528342C>T	ENSP00000347046:p.Arg88His					PDE5A_ENST00000394439.1_Missense_Mutation_p.R36H|PDE5A_ENST00000264805.5_Missense_Mutation_p.R46H	p.R88H	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			2	582	-			88					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.263G>A	CCDS3713.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	10.09	1.254409	0.22965	4.54E-4	1.16E-4	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	5.64	3.89	0.44902	.	0.313758	0.27773	N	0.017913	T	0.04272	0.0118	N	0.08118	0	0.24969	N	0.991671	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.36040	-0.9764	10	0.34782	T	0.22	.	8.4852	0.33067	0.0:0.7658:0.0:0.2342	.	88;46	O76074;O76074-2	PDE5A_HUMAN;.	H	88;36;46;36	ENSP00000347046:R88H;ENSP00000377957:R36H;ENSP00000264805:R46H;ENSP00000416309:R36H	ENSP00000264805:R46H	R	-	2	0	PDE5A	120747790	0.361000	0.24972	0.916000	0.36221	0.995000	0.86356	0.900000	0.28431	1.357000	0.45904	0.655000	0.94253	CGT		0.507	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		22	26	0	0	0	1	0	22	26				
WDSUB1	151525	broad.mit.edu	37	2	160136380	160136380	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160136380A>T	ENST00000409990.3	-	3	731	c.475T>A	c.(475-477)Tca>Aca	p.S159T	WDSUB1_ENST00000409124.1_Missense_Mutation_p.S159T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S159T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S159T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S159T	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	159							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TCACCACATGAGGAGCCAGTG	0.428																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(475-477)Tca>Aca		WD repeat, sterile alpha motif and U-box domain containing 1							78.0	76.0	76.0					2																	160136380		2203	4300	6503	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160136380A>T	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.475T>A	2.37:g.160136380A>T	ENSP00000387078:p.Ser159Thr					WDSUB1_ENST00000409124.1_Missense_Mutation_p.S159T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S159T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S159T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S159T	p.S159T	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			3	731	-			159					Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.475T>A	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825507	0.50739	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058257	0.64402	D	0.000001	T	0.63046	0.2478	L	0.28458	0.855	0.45515	D	0.998478	D;D;P	0.76494	0.998;0.999;0.479	D;D;B	0.83275	0.957;0.996;0.338	T	0.56757	-0.7926	10	0.08837	T	0.75	.	16.1341	0.81471	1.0:0.0:0.0:0.0	.	159;159;159	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	T	159	ENSP00000352820:S159T;ENSP00000350866:S159T;ENSP00000376545:S159T;ENSP00000387078:S159T;ENSP00000386891:S159T	ENSP00000350866:S159T	S	-	1	0	WDSUB1	159844626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	2.200000	0.70718	0.455000	0.32223	TCA		0.428	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		5	37	0	0	0	1	0	5	37				
TYW1	55253	broad.mit.edu	37	7	66548517	66548517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66548517C>T	ENST00000359626.5	+	11	1539	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	459					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATGATTAAGCAGTTTAAAGG	0.433																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1375-1377)Cag>Tag		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							91.0	87.0	88.0					7																	66548517		2203	4300	6503	SO:0001587	stop_gained	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548517C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1375C>T	7.37:g.66548517C>T	ENSP00000352645:p.Gln459*						p.Q459*	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			11	1539	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	459					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Nonsense_Mutation	SNP	ENST00000359626.5	37	c.1375C>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206074	0.97376	.	.	ENSG00000198874	ENST00000359626	.	.	.	4.52	4.52	0.55395	.	0.072073	0.56097	U	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.1129	0.72372	0.0:1.0:0.0:0.0	.	.	.	.	X	459	.	ENSP00000352645:Q459X	Q	+	1	0	TYW1	66185952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.469000	0.60169	2.215000	0.71742	0.603000	0.83216	CAG		0.433	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		25	35	0	0	0	1	0	25	35				
DNM1P46	196968	broad.mit.edu	37	15	100340420	100340420	+	RNA	SNP	G	G	A	rs367968117	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100340420G>A	ENST00000341853.1	-	0	506					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCACGCGAGCGCAGGTTGGAC	0.602													.|||	36	0.0071885	0.0083	0.0144	5008	,	,		22846	0.0		0.0109	False		,,,				2504	0.0041					ENST00000341853.1																			0															A		1,2887		0,1,1443	20.0	19.0	19.0			-0.5	0.0	15		19	1,6463		0,1,3231	no	intergenic				0,2,4674	AA,AG,GG		0.0155,0.0346,0.0214			100340420	2,9350	1444	3232	4676			0							g.chr15:100340420G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340420G>A								NR_003260.1						0	506	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.602	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	7	0	0	0	1	0	4	7				
DTNBP1	84062	broad.mit.edu	37	6	15615599	15615599	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15615599C>A	ENST00000344537.5	-	6	559	c.387G>T	c.(385-387)gaG>gaT	p.E129D	DTNBP1_ENST00000338950.5_Missense_Mutation_p.E129D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E129D	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	129					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCAGGTTGTTCTCTACCTCCT	0.368									Hermansky-Pudlak syndrome																													ENST00000338950.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14						c.(385-387)gaG>gaT		dystrobrevin binding protein 1							116.0	112.0	113.0					6																	15615599		2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15615599C>A	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.387G>T	6.37:g.15615599C>A	ENSP00000341680:p.Glu129Asp					DTNBP1_ENST00000344537.5_Missense_Mutation_p.E129D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E129D	p.E129D	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		6	492	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	129					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.387G>T	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295506	0.40594	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.58210	0.35;0.36;0.47	5.53	0.418	0.16429	.	0.000000	0.64402	D	0.000020	T	0.58177	0.2104	M	0.83603	2.65	0.31610	N	0.651615	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.994	T	0.58399	-0.7643	10	0.56958	D	0.05	.	8.8935	0.35449	0.0:0.3127:0.0:0.6873	.	129;129;129	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	D	129;129;48;94;129;129	ENSP00000341680:E129D;ENSP00000348183:E129D;ENSP00000344718:E129D	ENSP00000344718:E129D	E	-	3	2	DTNBP1	15723578	0.997000	0.39634	0.148000	0.22405	0.232000	0.25224	0.258000	0.18387	-0.146000	0.11274	-0.302000	0.09304	GAG		0.368	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		40	52	1	0	8.16904e-11	1	1.01094e-10	40	52				
OR2B2	81697	broad.mit.edu	37	6	27880070	27880070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27880070G>A	ENST00000303324.2	-	1	104	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATGAACTCCTGTGGGACACTC	0.368																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(28-30)Cag>Tag		olfactory receptor, family 2, subfamily B, member 2							59.0	61.0	60.0					6																	27880070		2203	4300	6503	SO:0001587	stop_gained	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27880070G>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.28C>T	6.37:g.27880070G>A	ENSP00000304419:p.Gln10*						p.Q10*	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	104	-			10					B2RNH2|Q9GZL2|Q9Y299	Nonsense_Mutation	SNP	ENST00000303324.2	37	c.28C>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836026	0.50951	.	.	ENSG00000168131	ENST00000303324	.	.	.	4.13	0.928	0.19443	.	0.486738	0.14887	U	0.292629	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	5.2138	0.15332	0.2223:0.1715:0.6062:0.0	.	.	.	.	X	10	.	ENSP00000304419:Q10X	Q	-	1	0	OR2B2	27988049	0.000000	0.05858	0.010000	0.14722	0.098000	0.18820	-1.463000	0.02361	0.424000	0.26061	0.563000	0.77884	CAG		0.368	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			35	43	0	0	0	1	0	35	43				
ACTN2	88	broad.mit.edu	37	1	236912466	236912466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236912466G>A	ENST00000366578.4	+	14	1724	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E520K|ACTN2_ENST00000546208.1_Missense_Mutation_p.E14K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	520					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTTCACCTGGAGTTTGCCAA	0.408																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1558-1560)Gag>Aag		actinin, alpha 2							112.0	109.0	110.0					1																	236912466		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236912466G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1558G>A	1.37:g.236912466G>A	ENSP00000355537:p.Glu520Lys					ACTN2_ENST00000546208.1_Missense_Mutation_p.E14K|ACTN2_ENST00000542672.1_Missense_Mutation_p.E520K	p.E520K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		14	1724	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	520					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1558G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565854	0.96540	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.70869	-0.52;-0.52;-0.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	M	0.78049	2.395	0.80722	D	1	D;D;D;P	0.71674	0.996;0.996;0.998;0.944	D;D;D;D	0.87578	0.998;0.977;0.998;0.977	D	0.86226	0.1634	10	0.66056	D	0.02	.	19.5083	0.95130	0.0:0.0:1.0:0.0	.	305;520;290;520	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	K	520;520;14;289	ENSP00000443495:E520K;ENSP00000355537:E520K;ENSP00000438384:E14K	ENSP00000355537:E520K	E	+	1	0	ACTN2	234979089	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.600000	0.87896	0.655000	0.94253	GAG		0.408	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		22	63	0	0	0	1	0	22	63				
PEX16	9409	broad.mit.edu	37	11	45935397	45935397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935397C>T	ENST00000378750.5	-	9	1103	c.860G>A	c.(859-861)cGc>cAc	p.R287H	PEX16_ENST00000532554.1_5'Flank|PEX16_ENST00000532681.1_Missense_Mutation_p.R192H|PEX16_ENST00000241041.3_Missense_Mutation_p.R287H			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	287	Interaction with PEX19.				ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GAAAGGAGAGCGCAGCAGGTA	0.672																																						ENST00000532681.1																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(574-576)cGc>cAc		peroxisomal biogenesis factor 16							68.0	65.0	66.0					11																	45935397		2203	4299	6502	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45935397C>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.860G>A	11.37:g.45935397C>T	ENSP00000368024:p.Arg287His					PEX16_ENST00000241041.3_Missense_Mutation_p.R287H|PEX16_ENST00000378750.5_Missense_Mutation_p.R287H	p.R192H			Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	9	1438	-			287					Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	c.575G>A	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138082	0.77775	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77544	-0.2548	10	0.87932	D	0	-22.4731	18.9414	0.92607	0.0:1.0:0.0:0.0	.	287;287	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	H	287;287;192;183	ENSP00000241041:R287H;ENSP00000368024:R287H;ENSP00000434654:R192H;ENSP00000433045:R183H	ENSP00000241041:R287H	R	-	2	0	PEX16	45891973	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	7.451000	0.80668	2.585000	0.87301	0.478000	0.44815	CGC		0.672	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		17	26	0	0	0	1	0	17	26				
ZNF607	84775	broad.mit.edu	37	19	38190630	38190630	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38190630T>C	ENST00000355202.4	-	5	997	c.402A>G	c.(400-402)acA>acG	p.T134T	ZNF607_ENST00000395835.3_Silent_p.T133T|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAGTATGAATTGTTTGATGTA	0.368																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(400-402)acA>acG		zinc finger protein 607							151.0	153.0	152.0					19																	38190630		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190630T>C	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.402A>G	19.37:g.38190630T>C						CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.T133T	p.T134T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	997	-			134					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.402A>G	CCDS33006.1																																																																																				0.368	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		4	133	0	0	0	1	0	4	133				
ITIH1	3697	broad.mit.edu	37	3	52811745	52811745	+	Silent	SNP	C	C	T	rs551526212		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52811745C>T	ENST00000273283.2	+	1	138	c.114C>T	c.(112-114)agC>agT	p.S38S	ITIH1_ENST00000540715.1_5'Flank|ITIH1_ENST00000542827.1_Silent_p.S38S|ITIH1_ENST00000537050.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	38	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCAAGAGCAGCGAGGTATATG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.001		0.0	False		,,,				2504	0.0					ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(112-114)agC>agT		inter-alpha-trypsin inhibitor heavy chain 1							65.0	58.0	61.0					3																	52811745		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52811745C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.114C>T	3.37:g.52811745C>T						ITIH1_ENST00000542827.1_Silent_p.S38S	p.S38S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	1	138	+			38			VIT.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.114C>T	CCDS2864.1																																																																																				0.632	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		4	28	0	0	0	1	0	4	28				
SHROOM3	57619	broad.mit.edu	37	4	77692005	77692005	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77692005A>T	ENST00000296043.6	+	10	6529	c.5576A>T	c.(5575-5577)gAg>gTg	p.E1859V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1859	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGTGTTGAGAATGTCCTT	0.502																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5575-5577)gAg>gTg		shroom family member 3							125.0	124.0	125.0					4																	77692005		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77692005A>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5576A>T	4.37:g.77692005A>T	ENSP00000296043:p.Glu1859Val					RP11-359D14.3_ENST00000449007.1_RNA	p.E1859V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6529	+			1859			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5576A>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177598	0.78564	.	.	ENSG00000138771	ENST00000296043	T	0.39592	1.07	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.67979	0.2951	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73325	-0.4018	10	0.87932	D	0	-36.7659	15.8304	0.78745	1.0:0.0:0.0:0.0	.	1859	Q8TF72	SHRM3_HUMAN	V	1859	ENSP00000296043:E1859V	ENSP00000296043:E1859V	E	+	2	0	SHROOM3	77911029	1.000000	0.71417	0.998000	0.56505	0.358000	0.29455	9.139000	0.94554	2.322000	0.78497	0.528000	0.53228	GAG		0.502	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	90	0	0	0	1	0	4	90				
TFAP2D	83741	broad.mit.edu	37	6	50719023	50719023	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50719023T>C	ENST00000008391.3	+	7	1353	c.1125T>C	c.(1123-1125)caT>caC	p.H375H		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCCAGAGACATTTAACACATT	0.403																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1123-1125)caT>caC		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							98.0	88.0	92.0					6																	50719023		2203	4299	6502	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50719023T>C	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1125T>C	6.37:g.50719023T>C							p.H375H	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			7	1353	+	Lung NSC(77;0.0334)		375			H-S-H (helix-span-helix), dimerization.			Silent	SNP	ENST00000008391.3	37	c.1125T>C	CCDS4933.1																																																																																				0.403	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		5	44	0	0	0	1	0	5	44				
PHLDB1	23187	broad.mit.edu	37	11	118526364	118526364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118526364G>T	ENST00000361417.2	+	22	4335	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D	PHLDB1_ENST00000356063.5_Missense_Mutation_p.E1261D|PHLDB1_ENST00000527898.1_Missense_Mutation_p.E359D|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Missense_Mutation_p.E451D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1308	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCATTGAGGAAGTGTACT	0.592																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3922-3924)gaG>gaT		pleckstrin homology-like domain, family B, member 1							120.0	100.0	107.0					11																	118526364		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118526364G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3924G>T	11.37:g.118526364G>T	ENSP00000354498:p.Glu1308Asp					PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E1261D|PHLDB1_ENST00000524713.1_Missense_Mutation_p.E451D|PHLDB1_ENST00000527898.1_Missense_Mutation_p.E359D	p.E1308D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	22	4335	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1308			PH.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.3924G>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008368	0.75046	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000541457;ENST00000527898;ENST00000524713	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.91	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	L	0.55103	1.725	0.52501	D	0.999954	D;D;D;P	0.89917	0.967;1.0;0.982;0.914	D;D;D;D	0.91635	0.919;0.999;0.975;0.966	T	0.80091	-0.1527	10	0.44086	T	0.13	-30.3567	8.9158	0.35581	0.2311:0.0:0.7689:0.0	.	672;1067;1261;1308	B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	D	1308;1082;672;1261;43;359;451	ENSP00000354498:E1308D;ENSP00000348359:E1261D;ENSP00000435388:E359D;ENSP00000434905:E451D	ENSP00000348359:E1261D	E	+	3	2	PHLDB1	118031574	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.053000	0.30442	1.502000	0.48669	0.655000	0.94253	GAG		0.592	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		8	65	1	0	1.12685e-05	1	1.27857e-05	8	65				
POLR1B	84172	broad.mit.edu	37	2	113305097	113305097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113305097C>T	ENST00000263331.5	+	3	1025	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	POLR1B_ENST00000409894.3_Missense_Mutation_p.R149C|POLR1B_ENST00000541869.1_Missense_Mutation_p.R187C|POLR1B_ENST00000417433.2_Missense_Mutation_p.R93C|POLR1B_ENST00000537335.1_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	149					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGCAACTTACGTAACCTTCC	0.493																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(445-447)Cgt>Tgt		polymerase (RNA) I polypeptide B, 128kDa							157.0	136.0	143.0					2																	113305097		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113305097C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.445C>T	2.37:g.113305097C>T	ENSP00000263331:p.Arg149Cys					POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.R149C|POLR1B_ENST00000541869.1_Missense_Mutation_p.R187C|POLR1B_ENST00000417433.2_Missense_Mutation_p.R93C	p.R149C	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			3	1025	+			149					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.445C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003840	0.35320	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.78	-11.6	0.00059	RNA polymerase, beta subunit, protrusion (1);	0.644709	0.17762	N	0.162846	T	0.56485	0.1988	M	0.64404	1.975	0.18873	N	0.999986	P;D;P;P	0.65815	0.95;0.995;0.952;0.868	P;P;B;B	0.48795	0.526;0.59;0.378;0.371	T	0.76490	-0.2940	10	0.59425	D	0.04	-0.7551	13.9603	0.64175	0.0:0.5414:0.1546:0.304	.	187;149;93;149	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	C	149;187;149;93	ENSP00000263331:R149C;ENSP00000444136:R187C;ENSP00000387143:R149C;ENSP00000405358:R93C	ENSP00000263331:R149C	R	+	1	0	POLR1B	113021568	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.448000	0.06820	-3.387000	0.00174	-1.784000	0.00644	CGT		0.493	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		8	62	0	0	0	1	0	8	62				
CYB561	1534	broad.mit.edu	37	17	61513147	61513147	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61513147C>T	ENST00000392976.1	-	4	606	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	CYB561_ENST00000448884.2_Missense_Mutation_p.V103M|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000581573.1_Missense_Mutation_p.V103M|CYB561_ENST00000582034.1_Missense_Mutation_p.V74M|CYB561_ENST00000584031.1_Nonsense_Mutation_p.W118*|CYB561_ENST00000582297.1_Missense_Mutation_p.V103M|CYB561_ENST00000360793.3_Missense_Mutation_p.V103M|CYB561_ENST00000542042.1_Missense_Mutation_p.V170M|CYB561_ENST00000392975.2_Missense_Mutation_p.V103M|CYB561_ENST00000582997.1_Missense_Mutation_p.V110M	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	103	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		AACACCGCCACCAAGCCTGGG	0.557																																						ENST00000584031.1																			0				lung(2)|ovary(1)|prostate(1)	4						c.(352-354)tgG>tgA		cytochrome b561							97.0	87.0	91.0					17																	61513147		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61513147C>T		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.307G>A	17.37:g.61513147C>T	ENSP00000376702:p.Val103Met					CYB561_ENST00000392975.2_Missense_Mutation_p.V103M|CYB561_ENST00000448884.2_Missense_Mutation_p.V103M|CYB561_ENST00000360793.3_Missense_Mutation_p.V103M|CYB561_ENST00000582997.1_Missense_Mutation_p.V110M|CYB561_ENST00000542042.1_Missense_Mutation_p.V170M|CYB561_ENST00000392976.1_Missense_Mutation_p.V103M|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000582034.1_Missense_Mutation_p.V74M|CYB561_ENST00000581573.1_Missense_Mutation_p.V103M|CYB561_ENST00000582297.1_Missense_Mutation_p.V103M	p.W118*			P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	4	653	-			0			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Nonsense_Mutation	SNP	ENST00000392976.1	37	c.354G>A	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134872	0.77662	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.43	4.43	0.53597	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.134339	0.49916	D	0.000123	T	0.59959	0.2232	M	0.81682	2.555	0.50813	D	0.999891	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.74023	0.98;0.982;0.98	T	0.61530	-0.7044	10	0.45353	T	0.12	-28.9573	6.5846	0.22614	0.0:0.8076:0.0:0.1924	.	103;170;103	B7Z775;F5H757;P49447	.;.;CY561_HUMAN	M	103;103;103;103;170	ENSP00000354028:V103M;ENSP00000376702:V103M;ENSP00000376701:V103M;ENSP00000400350:V103M;ENSP00000442773:V170M	ENSP00000354028:V103M	V	-	1	0	CYB561	58866879	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	3.521000	0.53472	2.297000	0.77311	0.561000	0.74099	GTG		0.557	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		11	14	0	0	0	1	0	11	14				
SLC8A1	6546	broad.mit.edu	37	2	40656468	40656468	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40656468T>C	ENST00000403092.1	-	2	986	c.953A>G	c.(952-954)gAt>gGt	p.D318G	SLC8A1_ENST00000406785.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D318G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D318G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D318G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	318					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTTCATCATCTTGGTCCCT	0.398																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(952-954)gAt>gGt		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						134.0	140.0	138.0					2																	40656468		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656468T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.953A>G	2.37:g.40656468T>C	ENSP00000384763:p.Asp318Gly					SLC8A1_ENST00000403092.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D318G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D318G	p.D318G			P32418	NAC1_HUMAN			2	1142	-			318					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.953A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.585820	0.46110	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.29917	1.56;1.59;1.6;1.59;1.56;1.56;1.6;1.55;1.56;1.57	6.17	6.17	0.99709	Heat shock protein DnaJ, N-terminal (1);	0.089375	0.85682	D	0.000000	T	0.54598	0.1868	M	0.69463	2.115	0.80722	D	1	D;D;D;D;B	0.71674	0.988;0.998;0.988;0.994;0.068	D;D;D;D;B	0.85130	0.975;0.997;0.915;0.922;0.155	T	0.56074	-0.8039	10	0.66056	D	0.02	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	318;318;318;318;318	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	G	318	ENSP00000383886:D318G;ENSP00000440727:D318G;ENSP00000384763:D318G;ENSP00000385678:D318G;ENSP00000385188:D318G;ENSP00000385535:D318G;ENSP00000332931:D318G;ENSP00000384908:D318G;ENSP00000385811:D318G;ENSP00000443515:D318G	ENSP00000332931:D318G	D	-	2	0	SLC8A1	40509972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.881000	0.87252	2.371000	0.80710	0.533000	0.62120	GAT		0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		5	162	0	0	0	1	0	5	162				
SULT1C2	6819	broad.mit.edu	37	2	108921631	108921631	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921631T>G	ENST00000437390.2	+	6	725	c.548T>G	c.(547-549)gTt>gGt	p.V183G	SULT1C2_ENST00000251481.6_Missense_Mutation_p.V169G|SULT1C2_ENST00000409880.1_Missense_Mutation_p.V132G|SULT1C2_ENST00000326853.5_Missense_Mutation_p.V180G			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	175					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATTTCAGTGGTTTGGGGTTCC	0.428																																						ENST00000326853.5																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(538-540)gTt>gGt		sulfotransferase family, cytosolic, 1C, member 2							239.0	222.0	228.0					2																	108921631		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921631T>G	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.548T>G	2.37:g.108921631T>G	ENSP00000399651:p.Val183Gly					SULT1C2_ENST00000437390.2_Missense_Mutation_p.V183G|SULT1C2_ENST00000409880.1_Missense_Mutation_p.V132G|SULT1C2_ENST00000251481.6_Missense_Mutation_p.V169G	p.V180G	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN			7	992	+			169					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.539T>G		.	.	.	.	.	.	.	.	.	.	T	3.234	-0.156741	0.06544	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	4.64	-9.27	0.00659	Sulfotransferase domain (1);	2.254730	0.01502	N	0.017551	T	0.68449	0.3002	N	0.12569	0.235	0.09310	N	1	B;B;B;B	0.25169	0.0;0.119;0.0;0.0	B;B;B;B	0.20384	0.002;0.029;0.002;0.002	T	0.60276	-0.7295	10	0.24483	T	0.36	.	16.2732	0.82630	0.0:0.6319:0.1:0.2681	.	183;84;169;180	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	G	169;180;132;183	ENSP00000251481:V169G;ENSP00000319622:V180G;ENSP00000387054:V132G;ENSP00000399651:V183G	ENSP00000251481:V169G	V	+	2	0	SULT1C2	108288063	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-3.143000	0.00585	-2.847000	0.00332	-1.235000	0.01560	GTT		0.428	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		7	89	0	0	0	1	0	7	89				
CACHD1	57685	broad.mit.edu	37	1	65141176	65141176	+	Silent	SNP	C	C	T	rs562187673	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65141176C>T	ENST00000371073.2	+	20	2820	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.N889N			Q5VU97	CAHD1_HUMAN	cache domain containing 1	940					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATTGTCAACGAAACCTGCG	0.493											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	6	0.00119808	0.0	0.0	5008	,	,		18039	0.005		0.0	False		,,,				2504	0.001					ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2818-2820)aaC>aaT		cache domain containing 1							242.0	211.0	222.0					1																	65141176		2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65141176C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2820C>T	1.37:g.65141176C>T			OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1081	CACHD1_ENST00000290039.5_Silent_p.N889N|CACHD1_ENST00000495994.1_3'UTR	p.N940N			Q5VU97	CAHD1_HUMAN			20	2820	+			940					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.2820C>T																																																																																					0.493	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		44	66	0	0	0	1	0	44	66				
ZNF266	10781	broad.mit.edu	37	19	9524768	9524768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524768G>A	ENST00000592904.1	-	5	2909	c.833C>T	c.(832-834)aCt>aTt	p.T278I	ZNF266_ENST00000592292.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T278I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T278I|ZNF266_ENST00000588221.1_Missense_Mutation_p.T278I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T278I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T278I			Q14584	ZN266_HUMAN	zinc finger protein 266	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGAGGAAACAGTGAAGGCTCT	0.423																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(832-834)aCt>aTt		zinc finger protein 266							99.0	101.0	100.0					19																	9524768		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524768G>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.833C>T	19.37:g.9524768G>A	ENSP00000466714:p.Thr278Ile					ZNF266_ENST00000588933.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T278I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T278I|ZNF266_ENST00000588221.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T278I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T278I	p.T278I			Q14584	ZN266_HUMAN			5	2909	-			278					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.833C>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944527	0.53079	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.05081	3.5;3.5	2.5	-4.99	0.03010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	L	0.34521	1.04	0.09310	N	1	B	0.20368	0.044	B	0.14578	0.011	T	0.43956	-0.9359	9	0.24483	T	0.36	.	0.7208	0.00940	0.196:0.2706:0.2814:0.2519	.	278	Q14584	ZN266_HUMAN	I	278	ENSP00000354680:T278I;ENSP00000355047:T278I	ENSP00000355047:T278I	T	-	2	0	ZNF266	9385768	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-12.892000	0.00001	-1.764000	0.01305	0.549000	0.68633	ACT		0.423	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			32	50	0	0	0	1	0	32	50				
TESPA1	9840	broad.mit.edu	37	12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A	rs533904016	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55356262G>A	ENST00000449076.1	-	9	1552	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.R336C|TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	474					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AAAGACCGACGCAGTTCTGGT	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18925	0.0		0.0	False		,,,				2504	0.0					ENST00000524622.1																			0											c.(1006-1008)Cgt>Tgt		thymocyte expressed, positive selection associated 1							170.0	172.0	171.0					12																	55356262		1949	4162	6111	SO:0001583	missense	9840							g.chr12:55356262G>A	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1420C>T	12.37:g.55356262G>A	ENSP00000400892:p.Arg474Cys					TESPA1_ENST00000449076.1_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C|TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C	p.R336C	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1667	-			474					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1006C>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	9.822	1.185930	0.21870	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.47869	0.83;0.83;0.84;0.84;0.83	4.42	2.59	0.31030	.	1.125660	0.06567	N	0.747728	T	0.31857	0.0810	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.28170	-1.0052	10	0.87932	D	0	-0.49	6.8312	0.23911	0.2069:0.0:0.7931:0.0	.	474	A2RU30	K0748_HUMAN	C	336;74;336;474;474;336	ENSP00000435622:R336C;ENSP00000432030:R336C;ENSP00000400892:R474C;ENSP00000312679:R474C;ENSP00000433098:R336C	ENSP00000312679:R474C	R	-	1	0	KIAA0748	53642529	0.001000	0.12720	0.001000	0.08648	0.038000	0.13279	0.835000	0.27531	0.799000	0.34018	0.655000	0.94253	CGT		0.517	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		75	121	0	0	0	1	0	75	121				
MDN1	23195	broad.mit.edu	37	6	90384300	90384300	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90384300A>C	ENST00000369393.3	-	79	12885	c.12770T>G	c.(12769-12771)cTc>cGc	p.L4257R	MDN1_ENST00000428876.1_Missense_Mutation_p.L4257R|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4257					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACACAGCTGAGGAGGTTCCT	0.512																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(12769-12771)cTc>cGc		MDN1, midasin homolog (yeast)							31.0	35.0	34.0					6																	90384300		2134	4165	6299	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384300A>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12770T>G	6.37:g.90384300A>C	ENSP00000358400:p.Leu4257Arg					MDN1_ENST00000428876.1_Missense_Mutation_p.L4257R|RP1-122O8.7_ENST00000438877.1_RNA	p.L4257R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	12885	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4257					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12770T>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937510	0.52972	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03889	3.77;3.77	5.77	4.54	0.55810	.	0.311935	0.31381	N	0.007758	T	0.06917	0.0176	M	0.75447	2.3	0.39859	D	0.973343	D	0.54397	0.966	P	0.52159	0.691	T	0.31081	-0.9956	10	0.28530	T	0.3	.	12.623	0.56614	0.8619:0.1381:0.0:0.0	.	4257	Q9NU22	MDN1_HUMAN	R	4257	ENSP00000358400:L4257R;ENSP00000413970:L4257R	ENSP00000358400:L4257R	L	-	2	0	MDN1	90441021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.136000	0.58004	2.203000	0.70933	0.533000	0.62120	CTC		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	31	0	0	0	1	0	6	31				
HSD3B1	3283	broad.mit.edu	37	1	120056731	120056731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120056731C>T	ENST00000369413.3	+	4	730	c.585C>T	c.(583-585)agC>agT	p.S195S	HSD3B1_ENST00000528909.1_Silent_p.S195S|HSD3B1_ENST00000235547.6_Silent_p.S197S			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	195					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GGGAAGGAAGCCGATTCCTTT	0.493																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(589-591)agC>agT		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						86.0	84.0	85.0					1																	120056731		2203	4300	6503	SO:0001819	synonymous_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056731C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.585C>T	1.37:g.120056731C>T						HSD3B1_ENST00000528909.1_Silent_p.S195S|HSD3B1_ENST00000369413.3_Silent_p.S195S	p.S197S	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	730	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	195					A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	c.591C>T	CCDS903.1																																																																																				0.493	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		41	60	0	0	0	1	0	41	60				
HECTD4	283450	broad.mit.edu	37	12	112697032	112697032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112697032G>A	ENST00000430131.2	-	18	2760	c.1615C>T	c.(1615-1617)Ctt>Ttt	p.L539F	HECTD4_ENST00000377560.5_Missense_Mutation_p.L789F|HECTD4_ENST00000550722.1_Missense_Mutation_p.L825F|RP3-521E19.2_ENST00000547401.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	539					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGTGACCAAGCATAGTAGCC	0.443																																						ENST00000550722.1																			0											c.(2473-2475)Ctt>Ttt		HECT domain containing E3 ubiquitin protein ligase 4							115.0	110.0	111.0					12																	112697032		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112697032G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1615C>T	12.37:g.112697032G>A	ENSP00000404379:p.Leu539Phe					HECTD4_ENST00000430131.2_Missense_Mutation_p.L539F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L789F	p.L825F	NM_001109662.3	NP_001103132.3					19	2868	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.2473C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.583199	0.86748	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547352	T;T;T	0.61392	0.11;0.13;0.11	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	N	0.24115	0.695	0.52099	D	0.999943	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.75484	0.986;0.979;0.986	T	0.70799	-0.4774	10	0.87932	D	0	.	19.3263	0.94264	0.0:0.0:1.0:0.0	.	539;539;539	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	F	789;539;825;33	ENSP00000366783:L789F;ENSP00000404379:L539F;ENSP00000449784:L825F	ENSP00000366783:L789F	L	-	1	0	C12orf51	111181415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.015000	0.70791	2.628000	0.89032	0.655000	0.94253	CTT		0.443	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	57	0	0	0	1	0	5	57				
GAD1	2571	broad.mit.edu	37	2	171702114	171702114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171702114C>A	ENST00000358196.3	+	8	1400	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	284					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TAAACTGGTCCTCTTCACCTC	0.507																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(850-852)Ctc>Atc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						103.0	102.0	102.0					2																	171702114		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702114C>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.850C>A	2.37:g.171702114C>A	ENSP00000350928:p.Leu284Ile						p.L284I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			8	1400	+			284					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.850C>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733372	0.48939	.	.	ENSG00000128683	ENST00000358196	T	0.34072	1.38	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	N	0.25825	0.765	0.80722	D	1	B	0.25048	0.117	B	0.35312	0.2	T	0.08166	-1.0735	10	0.23891	T	0.37	-14.7843	19.7657	0.96340	0.0:1.0:0.0:0.0	.	284	Q99259	DCE1_HUMAN	I	284	ENSP00000350928:L284I	ENSP00000350928:L284I	L	+	1	0	GAD1	171410360	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.487000	0.81328	2.649000	0.89929	0.655000	0.94253	CTC		0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			26	44	1	0	0.000117367	1	0.000129652	26	44				
LVRN	206338	broad.mit.edu	37	5	115329463	115329463	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115329463A>T	ENST00000357872.4	+	6	1410	c.1286A>T	c.(1285-1287)aAt>aTt	p.N429I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		429						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GTTACCATGAATTGGTGGAAC	0.303																																						ENST00000357872.4																			0											c.(1285-1287)aAt>aTt									84.0	84.0	84.0					5																	115329463		2202	4296	6498	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115329463A>T																												ENST00000357872.4:c.1286A>T	5.37:g.115329463A>T	ENSP00000350541:p.Asn429Ile					AQPEP_ENST00000395528.2_5'UTR	p.N429I	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			6	1410	+			429					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1286A>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013379	0.35511	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05025	3.51	5.35	-0.0181	0.13965	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.789478	0.11642	N	0.543644	T	0.06188	0.0160	L	0.55990	1.75	0.80722	D	1	P	0.39920	0.695	B	0.36030	0.216	T	0.42413	-0.9453	10	0.40728	T	0.16	.	5.3686	0.16127	0.6115:0.137:0.2515:0.0	.	429	Q6Q4G3	AMPQ_HUMAN	I	429;418	ENSP00000350541:N429I	ENSP00000350541:N429I	N	+	2	0	AC010282.1	115357362	0.279000	0.24239	0.976000	0.42696	0.997000	0.91878	0.878000	0.28126	-0.149000	0.11215	0.528000	0.53228	AAT		0.303	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			30	54	0	0	0	1	0	30	54				
GLTSCR1L	23506	broad.mit.edu	37	6	42796669	42796669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42796669C>T	ENST00000314073.5	+	6	774	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H200Y			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	200																	TCCCAGCCAGCATTTGTCTAA	0.438																																						ENST00000314073.5																			0											c.(598-600)Cat>Tat		GLTSCR1-like							163.0	151.0	155.0					6																	42796669		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42796669C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.598C>T	6.37:g.42796669C>T	ENSP00000313933:p.His200Tyr					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H200Y	p.H200Y							6	774	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.598C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950158	0.53186	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.38401	1.14;1.14	5.49	5.49	0.81192	.	0.083375	0.52532	D	0.000072	T	0.24967	0.0606	L	0.44542	1.39	0.47994	D	0.999568	B;P;P	0.52316	0.435;0.952;0.898	B;B;P	0.44561	0.352;0.346;0.453	T	0.01460	-1.1349	10	0.20519	T	0.43	-18.9866	19.7507	0.96267	0.0:1.0:0.0:0.0	.	200;200;200	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	Y	200	ENSP00000313933:H200Y;ENSP00000377723:H200Y	ENSP00000313933:H200Y	H	+	1	0	KIAA0240	42904647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.946000	0.75953	2.722000	0.93159	0.655000	0.94253	CAT		0.438	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		5	135	0	0	0	1	0	5	135				
TNNT3	7140	broad.mit.edu	37	11	1950364	1950364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1950364G>T	ENST00000397301.1	+	8	138	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.D35Y|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000278317.6_Missense_Mutation_p.D33Y|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381579.3_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	44					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CGCAGAGGAGGACGCGGAAGG	0.667																																						ENST00000278317.6																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(97-99)Gac>Tac		troponin T type 3 (skeletal, fast)							100.0	104.0	103.0					11																	1950364		2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1950364G>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.130G>T	11.37:g.1950364G>T	ENSP00000380468:p.Asp44Tyr					TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.D35Y|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000397301.1_Missense_Mutation_p.D44Y|TNNT3_ENST00000446240.1_Intron	p.D33Y	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	7	316	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	44					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.97G>T		.	.	.	.	.	.	.	.	.	.	.	5.680	0.309995	0.10733	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381548;ENST00000397301	T;T;D	0.99454	2.91;2.9;-5.92	2.67	2.67	0.31697	.	0.804708	0.09971	U	0.732292	D	0.97936	0.9321	.	.	.	0.36417	D	0.864067	B	0.12630	0.006	B	0.11329	0.006	D	0.99943	1.1431	9	0.59425	D	0.04	0.5053	8.9823	0.35972	0.0:0.0:1.0:0.0	.	33	P45378-2	.	Y	33;45;35;44	ENSP00000278317:D33Y;ENSP00000370960:D35Y;ENSP00000380468:D44Y	ENSP00000278317:D33Y	D	+	1	0	TNNT3	1906940	0.667000	0.27484	0.531000	0.27976	0.114000	0.19823	0.847000	0.27696	1.791000	0.52520	0.491000	0.48974	GAC		0.667	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		7	113	1	0	0.00448238	1	0.00472561	7	113				
CNGA2	1260	broad.mit.edu	37	X	150912736	150912736	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150912736C>T	ENST00000329903.4	+	6	1794	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	587					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGAGAACGAAGTGGCAA	0.547																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1759-1761)aaC>aaT		cyclic nucleotide gated channel alpha 2							176.0	140.0	152.0					X																	150912736		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912736C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1761C>T	X.37:g.150912736C>T							p.N587N	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1794	+	Acute lymphoblastic leukemia(192;6.56e-05)		587					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.1761C>T	CCDS14701.1																																																																																				0.547	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		67	104	0	0	0	1	0	67	104				
CCT3	7203	broad.mit.edu	37	1	156287301	156287301	+	Missense_Mutation	SNP	C	C	T	rs376476578		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156287301C>T	ENST00000295688.3	-	9	1077	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CCT3_ENST00000368259.2_Missense_Mutation_p.R228Q|CCT3_ENST00000368261.3_Missense_Mutation_p.R221Q|CCT3_ENST00000472765.2_Missense_Mutation_p.R221Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	266					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTGGAGAATTCGGGTGAAGTC	0.473																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(796-798)cGa>cAa		chaperonin containing TCP1, subunit 3 (gamma)		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	214.0	207.0	209.0		683,797	4.9	1.0	1		209	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CCT3	NM_001008800.2,NM_005998.4	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	228/508,266/546	156287301	1,13005	2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156287301C>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.797G>A	1.37:g.156287301C>T	ENSP00000295688:p.Arg266Gln					CCT3_ENST00000472765.2_Missense_Mutation_p.R221Q|CCT3_ENST00000368261.3_Missense_Mutation_p.R221Q|CCT3_ENST00000368259.2_Missense_Mutation_p.R228Q	p.R266Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			9	1077	-	Hepatocellular(266;0.158)		266					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.797G>A	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006615	0.54361	0.0	1.16E-4	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.85	4.94	0.65067	.	0.123452	0.52532	D	0.000062	T	0.77336	0.4115	L	0.57130	1.785	0.48696	D	0.999698	P;D;P	0.64830	0.704;0.994;0.794	B;P;B	0.60415	0.04;0.874;0.355	T	0.76277	-0.3018	10	0.29301	T	0.29	-1.5429	13.2584	0.60091	0.0:0.923:0.0:0.077	.	228;265;266	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	Q	266;228;221;221	ENSP00000295688:R266Q;ENSP00000357242:R228Q;ENSP00000357244:R221Q;ENSP00000431543:R221Q	ENSP00000295688:R266Q	R	-	2	0	CCT3	154553925	1.000000	0.71417	0.991000	0.47740	0.470000	0.32858	4.858000	0.62947	1.621000	0.50320	-0.163000	0.13421	CGA		0.473	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		29	184	0	0	0	1	0	29	184				
ABCA3	21	broad.mit.edu	37	16	2333211	2333211	+	Silent	SNP	G	G	A	rs144957382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2333211G>A	ENST00000301732.5	-	26	4711	c.4011C>T	c.(4009-4011)tgC>tgT	p.C1337C	ABCA3_ENST00000382381.3_Silent_p.C1279C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1337					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TCCGGAGGGCGCAGAGGATGC	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17428	0.0		0.0	False		,,,				2504	0.0					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4009-4011)tgC>tgT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	38.0	44.0	42.0		4011	-2.7	0.0	16	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCA3	NM_001089.2		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		1337/1705	2333211	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2333211G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4011C>T	16.37:g.2333211G>A						ABCA3_ENST00000382381.3_Silent_p.C1279C	p.C1337C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			26	4711	-		Ovarian(90;0.17)	1337					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4011C>T	CCDS10466.1																																																																																				0.662	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		16	17	0	0	0	1	0	16	17				
CTNS	1497	broad.mit.edu	37	17	3560041	3560041	+	Silent	SNP	C	C	T	rs150428029		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3560041C>T	ENST00000046640.3	+	9	1226	c.633C>T	c.(631-633)caC>caT	p.H211H	CTNS_ENST00000441220.2_Silent_p.H103H|CTNS_ENST00000381870.3_Silent_p.H211H|CTNS_ENST00000414524.2_Silent_p.H64H|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	211					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCAGCCTGCACGCGGTTGTCC	0.612																																						ENST00000046640.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10						c.(631-633)caC>caT		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)		,	2,4404	4.2+/-10.8	0,2,2201	154.0	123.0	134.0		633,633	-1.9	1.0	17	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CTNS	NM_001031681.2,NM_004937.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	211/401,211/368	3560041	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3560041C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.633C>T	17.37:g.3560041C>T						CTNS_ENST00000414524.2_Silent_p.H64H|CTNS_ENST00000381870.3_Silent_p.H211H|CTNS_ENST00000441220.2_Silent_p.H103H|RP11-235E17.6_ENST00000575741.1_RNA	p.H211H	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	9	1226	+			211					D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.633C>T	CCDS11031.1																																																																																				0.612	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		20	38	0	0	0	1	0	20	38				
PRX	57716	broad.mit.edu	37	19	40902982	40902982	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902982C>T	ENST00000324001.7	-	7	1547	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	426					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTCCGATGCCAAGGGAGGG	0.612																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1276-1278)gGc>gAc		periaxin							53.0	58.0	56.0					19																	40902982		2203	4299	6502	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902982C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1277G>A	19.37:g.40902982C>T	ENSP00000326018:p.Gly426Asp					PRX_ENST00000291825.7_3'UTR	p.G426D	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1547	-			426					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1277G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783274	0.31593	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01933	4.55	4.65	4.65	0.58169	.	0.000000	0.49916	D	0.000133	T	0.07593	0.0191	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42766	-0.9432	10	0.06099	T	0.92	-16.4514	6.9164	0.24361	0.0:0.8113:0.0:0.1887	.	426	Q9BXM0	PRAX_HUMAN	D	426	ENSP00000326018:G426D	ENSP00000326018:G426D	G	-	2	0	PRX	45594822	0.013000	0.17824	0.986000	0.45419	0.495000	0.33615	0.769000	0.26604	2.408000	0.81797	0.655000	0.94253	GGC		0.612	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		35	51	0	0	0	1	0	35	51				
MYO1C	4641	broad.mit.edu	37	17	1380798	1380798	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380798C>T	ENST00000575158.1	-	14	1646		c.e14+1		MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Splice_Site|MYO1C_ENST00000545534.2_Splice_Site			Q12965	MYO1E_HUMAN	myosin IC						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCCACTCACGTCAGGAAGT	0.637																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.e14+1		myosin IC							49.0	39.0	42.0					17																	1380798		2203	4300	6503	SO:0001630	splice_region_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1380798C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1469+1G>A	17.37:g.1380798C>T						MYO1C_ENST00000545534.2_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000575158.1_Splice_Site		NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	14	1899	-								Q14778	Splice_Site	SNP	ENST00000575158.1	37		CCDS11003.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482336	0.84747	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3421	0.87299	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO1C	1327548	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.776000	0.85560	2.397000	0.81536	0.563000	0.77884	.		0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2		Intron	8	22	0	0	0	1	0	8	22				
APBB2	323	broad.mit.edu	37	4	41015610	41015610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(823-825)ccG>ccA		amyloid beta (A4) precursor protein-binding, family B, member 2							133.0	131.0	132.0					4																	41015610		1970	4149	6119	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41015610C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.825G>A	4.37:g.41015610C>T						APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P	p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1454	-			275					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.825G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.118483	0.01785	.	.	ENSG00000163697	ENST00000513611	.	.	.	6.04	-4.8	0.03190	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	-13.3558	5.2636	0.15588	0.0929:0.1346:0.17:0.6025	.	.	.	.	R	265	.	.	G	-	1	0	APBB2	40710367	0.000000	0.05858	0.880000	0.34516	0.021000	0.10359	-2.188000	0.01249	-0.852000	0.04141	0.563000	0.77884	GGA		0.512	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		14	167	0	0	0	1	0	14	167				
SLC27A1	376497	broad.mit.edu	37	19	17597580	17597580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597580G>A	ENST00000252595.7	+	2	473	c.376G>A	c.(376-378)Gcg>Acg	p.A126T	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A126T	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	126					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGGGCTTCGCGCCGGGCGA	0.706																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(376-378)Gcg>Acg		solute carrier family 27 (fatty acid transporter), member 1							19.0	18.0	18.0					19																	17597580		2197	4297	6494	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17597580G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.376G>A	19.37:g.17597580G>A	ENSP00000252595:p.Ala126Thr					SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A126T	p.A126T	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			2	473	+			126					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.376G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	5.063	0.197312	0.09599	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.39787	1.06;1.06	4.92	2.7	0.31948	AMP-dependent synthetase/ligase (1);	0.711114	0.14460	N	0.318246	T	0.21022	0.0506	N	0.10733	0.035	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.16247	-1.0409	10	0.51188	T	0.08	.	5.2194	0.15360	0.1947:0.1643:0.641:0.0	.	126	Q6PCB7	S27A1_HUMAN	T	126	ENSP00000413424:A126T;ENSP00000252595:A126T	ENSP00000252595:A126T	A	+	1	0	SLC27A1	17458580	0.001000	0.12720	0.008000	0.14137	0.025000	0.11179	0.492000	0.22435	0.438000	0.26450	0.561000	0.74099	GCG		0.706	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		4	6	0	0	0	1	0	4	6				
CHIAP2	149620	broad.mit.edu	37	1	111825252	111825252	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111825252A>C	ENST00000369743.4	+	0	1041					NR_003928.1				chitinase, acidic pseudogene 2																		TCAGTCATCAAATTCCTGCGC	0.537																																						ENST00000369743.4																			0																																																			0							g.chr1:111825252A>C			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111825252A>C								NR_003928.1						0	1041	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.537	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			9	68	0	0	0	1	0	9	68				
NACA	4666	broad.mit.edu	37	12	57110603	57110603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57110603G>T	ENST00000454682.1	-	3	4992	c.4711C>A	c.(4711-4713)Cca>Aca	p.P1571T	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1571	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGGCTTCTTTG	0.587			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(4711-4713)Cca>Aca		nascent polypeptide-associated complex alpha subunit							19.0	22.0	21.0					12																	57110603		1520	3481	5001	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57110603G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4711C>A	12.37:g.57110603G>T	ENSP00000403817:p.Pro1571Thr					NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	p.P1571T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4992	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.4711C>A		.	.	.	.	.	.	.	.	.	.	G	4.192	0.034277	0.08101	.	.	ENSG00000196531	ENST00000454682	T	0.43294	0.95	3.38	-6.77	0.01727	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.18745	-1.0327	7	.	.	.	.	0.9157	0.01304	0.31:0.3272:0.1441:0.2188	.	1571	E9PAV3	.	T	1571	ENSP00000403817:P1571T	.	P	-	1	0	NACA	55396870	1.000000	0.71417	0.000000	0.03702	0.067000	0.16453	0.820000	0.27323	-1.576000	0.01652	0.298000	0.19748	CCA		0.587	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	24	1	0	0.00116845	1	0.00124821	5	24				
KCNC2	3747	broad.mit.edu	37	12	75441976	75441976	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75441976C>T	ENST00000549446.1	-	4	2417	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000298972.1_Silent_p.T579T|KCNC2_ENST00000548513.1_Silent_p.T579T|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000550433.1_Silent_p.T579T|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000341669.3_Silent_p.T579T|KCNC2_ENST00000393288.2_Silent_p.T579T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	579					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AATCACCTGTCGTCAGTAGGA	0.468																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1735-1737)acG>acA		potassium voltage-gated channel, Shaw-related subfamily, member 2							324.0	256.0	279.0					12																	75441976		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75441976C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1737G>A	12.37:g.75441976C>T						KCNC2_ENST00000550433.1_Silent_p.T579T|KCNC2_ENST00000393288.2_Silent_p.T579T|KCNC2_ENST00000341669.3_Silent_p.T579T|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000298972.1_Silent_p.T579T|KCNC2_ENST00000548513.1_Silent_p.T579T|KCNC2_ENST00000350228.2_Intron	p.T579T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			4	2417	-			579					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.1737G>A	CCDS9007.1																																																																																				0.468	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		77	144	0	0	0	1	0	77	144				
ZNF266	10781	broad.mit.edu	37	19	9524262	9524262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524262G>A	ENST00000592904.1	-	5	3415	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y	ZNF266_ENST00000592292.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.H447Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000590306.1_Missense_Mutation_p.H447Y			Q14584	ZN266_HUMAN	zinc finger protein 266	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTGGAGGAATGCGTAAATGCT	0.428																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(1339-1341)Cat>Tat		zinc finger protein 266							66.0	61.0	62.0					19																	9524262		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524262G>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1339C>T	19.37:g.9524262G>A	ENSP00000466714:p.His447Tyr					ZNF266_ENST00000588933.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.H447Y|ZNF266_ENST00000590306.1_Missense_Mutation_p.H447Y	p.H447Y			Q14584	ZN266_HUMAN			5	3415	-			447					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.1339C>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722734	0.30503	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.06528	3.29;3.29	2.04	-4.08	0.03963	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	N	0.13327	0.33	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42882	-0.9425	9	0.39692	T	0.17	.	0.3345	0.00324	0.2555:0.2986:0.192:0.2538	.	447	Q14584	ZN266_HUMAN	Y	447	ENSP00000354680:H447Y;ENSP00000355047:H447Y	ENSP00000355047:H447Y	H	-	1	0	ZNF266	9385262	0.000000	0.05858	0.000000	0.03702	0.761000	0.43186	-6.904000	0.00050	-1.357000	0.02180	0.555000	0.69702	CAT		0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			14	31	0	0	0	1	0	14	31				
HECW2	57520	broad.mit.edu	37	2	197081742	197081742	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197081742C>A	ENST00000260983.3	-	27	4666	c.4484G>T	c.(4483-4485)aGg>aTg	p.R1495M	snoU13_ENST00000459047.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.R1139M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1495	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTAACAACCTTAGTCGTTG	0.333																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(4483-4485)aGg>aTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							168.0	158.0	162.0					2																	197081742		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197081742C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4484G>T	2.37:g.197081742C>A	ENSP00000260983:p.Arg1495Met					HECW2_ENST00000409111.1_Missense_Mutation_p.R1139M	p.R1495M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			27	4666	-			1495			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.4484G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855193	0.91355	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.58652	0.32;0.32	5.36	5.36	0.76844	HECT (4);	0.284069	0.36338	N	0.002644	T	0.77791	0.4183	M	0.80982	2.52	0.80722	D	1	D	0.65815	0.995	D	0.66979	0.948	T	0.80188	-0.1486	10	0.87932	D	0	.	19.2924	0.94105	0.0:1.0:0.0:0.0	.	1495	Q9P2P5	HECW2_HUMAN	M	1139;1495	ENSP00000386775:R1139M;ENSP00000260983:R1495M	ENSP00000260983:R1495M	R	-	2	0	HECW2	196789987	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.783000	0.95769	0.655000	0.94253	AGG		0.333	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		7	79	1	0	8.12818e-05	1	8.99451e-05	7	79				
ENAM	10117	broad.mit.edu	37	4	71500102	71500102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71500102G>A	ENST00000396073.3	+	6	569	c.288G>A	c.(286-288)caG>caA	p.Q96Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	96					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTGGCCTCAGCCACCACCCA	0.512																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(286-288)caG>caA		enamelin							142.0	142.0	142.0					4																	71500102		2203	4296	6499	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71500102G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.288G>A	4.37:g.71500102G>A							p.Q96Q	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		6	569	+			96					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.288G>A	CCDS3544.2																																																																																				0.512	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		6	102	0	0	0	1	0	6	102				
POLR2M	81488	broad.mit.edu	37	15	58004371	58004371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58004371G>T	ENST00000299638.3	+	3	1162	c.948G>T	c.(946-948)caG>caT	p.Q316H	GCOM1_ENST00000380569.2_Missense_Mutation_p.Q498H|POLR2M_ENST00000380563.2_Missense_Mutation_p.Q316H|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q713H|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Missense_Mutation_p.Q159H	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	316					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										AGAAACAGCAGAAACAGAATT	0.428																																						ENST00000299638.3																			0											c.(946-948)caG>caT		polymerase (RNA) II (DNA directed) polypeptide M							39.0	41.0	40.0					15																	58004371		2192	4292	6484	SO:0001583	missense	81488							g.chr15:58004371G>T	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.948G>T	15.37:g.58004371G>T	ENSP00000299638:p.Gln316His					POLR2M_ENST00000380563.2_Missense_Mutation_p.Q316H|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q713H|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q498H|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380557.4_Missense_Mutation_p.Q159H	p.Q316H	NM_015532.3	NP_056347.1					3	1162	+								Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	c.948G>T	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941358	0.53079	.	.	ENSG00000137878;ENSG00000255529;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000380563;ENST00000299638;ENST00000380557	T	0.28454	1.61	4.76	3.84	0.44239	.	0.078627	0.51477	D	0.000082	T	0.48607	0.1509	.	.	.	0.30022	N	0.814278	B;B;D	0.71674	0.244;0.047;0.998	B;B;D	0.80764	0.141;0.027;0.994	T	0.45381	-0.9265	9	0.62326	D	0.03	-19.128	8.7463	0.34589	0.1724:0.0:0.8276:0.0	.	159;316;498	P0CAP2-2;P0CAP2;P0CAP1-11	.;GRL1A_HUMAN;.	H	498;316;316;159	ENSP00000369943:Q498H	ENSP00000369943:Q498H	Q	+	3	2	GCOM1;GRINL1A	55791663	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.054000	0.41335	2.627000	0.88993	0.591000	0.81541	CAG		0.428	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			13	27	1	0	1.15088e-07	1	1.35723e-07	13	27				
TRPC5	7224	broad.mit.edu	37	X	111195533	111195533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195533G>A	ENST00000262839.2	-	2	1034	c.116C>T	c.(115-117)gCt>gTt	p.A39V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	39					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTCCACAGCATTGAGGAA	0.527																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(115-117)gCt>gTt		transient receptor potential cation channel, subfamily C, member 5							102.0	80.0	87.0					X																	111195533		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195533G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.116C>T	X.37:g.111195533G>A	ENSP00000262839:p.Ala39Val						p.A39V	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			2	1034	-			39					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.116C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177368	0.94846	.	.	ENSG00000072315	ENST00000262839	T	0.79653	-1.29	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	H	0.94183	3.505	0.80722	D	1	D;D	0.65815	0.972;0.995	P;D	0.68039	0.877;0.955	D	0.94530	0.7735	10	0.87932	D	0	-6.8399	18.437	0.90650	0.0:0.0:1.0:0.0	.	40;39	Q59G51;Q9UL62	.;TRPC5_HUMAN	V	39	ENSP00000262839:A39V	ENSP00000262839:A39V	A	-	2	0	TRPC5	111082189	1.000000	0.71417	0.967000	0.41034	0.938000	0.57974	9.869000	0.99810	2.294000	0.77228	0.600000	0.82982	GCT		0.527	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		30	49	0	0	0	1	0	30	49				
SLAMF1	6504	broad.mit.edu	37	1	160604616	160604616	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160604616C>A	ENST00000302035.6	-	3	836	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	SLAMF1_ENST00000235739.5_Missense_Mutation_p.G163C|SLAMF1_ENST00000538290.1_Missense_Mutation_p.G163C|SLAMF1_ENST00000355199.3_Missense_Mutation_p.G163C	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	163	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGTGCAGCCCAGTATCAAG	0.567																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(487-489)Ggc>Tgc		signaling lymphocytic activation molecule family member 1							104.0	103.0	103.0					1																	160604616		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604616C>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.487G>T	1.37:g.160604616C>A	ENSP00000306190:p.Gly163Cys					SLAMF1_ENST00000538290.1_Missense_Mutation_p.G163C|SLAMF1_ENST00000355199.3_Missense_Mutation_p.G163C|SLAMF1_ENST00000235739.5_Missense_Mutation_p.G163C	p.G163C	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	836	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		163			Ig-like C2-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.487G>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694623	0.30052	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.31	2.41	0.29592	Immunoglobulin-like (1);	0.565594	0.19209	N	0.119977	T	0.11110	0.0271	N	0.22421	0.69	0.22601	N	0.998949	P	0.39131	0.661	B	0.36608	0.229	T	0.05666	-1.0871	10	0.66056	D	0.02	-0.2834	5.2492	0.15514	0.2022:0.6939:0.0:0.1039	.	163	Q13291	SLAF1_HUMAN	C	163	ENSP00000306190:G163C;ENSP00000235739:G163C;ENSP00000438406:G163C;ENSP00000347333:G163C	ENSP00000235739:G163C	G	-	1	0	SLAMF1	158871240	0.004000	0.15560	0.687000	0.30102	0.646000	0.38490	0.332000	0.19751	0.733000	0.32492	0.655000	0.94253	GGC		0.567	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			30	75	1	0	4.34311e-12	1	5.44287e-12	30	75				
NLRP1	22861	broad.mit.edu	37	17	5461658	5461658	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461658C>T	ENST00000572272.1	-	4	2357		c.e4+1		NLRP1_ENST00000571307.1_Splice_Site|NLRP1_ENST00000345221.3_Splice_Site|NLRP1_ENST00000354411.3_Splice_Site|NLRP1_ENST00000577119.1_Splice_Site|NLRP1_ENST00000269280.4_Splice_Site|NLRP1_ENST00000262467.5_Splice_Site			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGTACTCACAGGACTACCA	0.567																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4+1		NLR family, pyrin domain containing 1							83.0	84.0	84.0					17																	5461658		2203	4300	6503	SO:0001630	splice_region_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5461658C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2357+1G>A	17.37:g.5461658C>T						NLRP1_ENST00000571307.1_Splice_Site|NLRP1_ENST00000354411.3_Splice_Site|NLRP1_ENST00000269280.4_Splice_Site|NLRP1_ENST00000572272.1_Splice_Site|NLRP1_ENST00000577119.1_Splice_Site|NLRP1_ENST00000262467.5_Splice_Site		NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2912	-		Colorectal(1115;3.48e-05)						E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Splice_Site	SNP	ENST00000572272.1	37		CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647277	0.47258	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9423	0.58352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NLRP1	5402382	0.988000	0.35896	1.000000	0.80357	0.543000	0.35085	1.120000	0.31271	2.323000	0.78572	0.555000	0.69702	.		0.567	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	Intron	15	44	0	0	0	1	0	15	44				
BDP1	55814	broad.mit.edu	37	5	70837939	70837939	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70837939A>C	ENST00000358731.4	+	30	6522	c.6259A>C	c.(6259-6261)Att>Ctt	p.I2087L	BDP1_ENST00000380675.2_Missense_Mutation_p.I223L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2087					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGGAATACAATTTCTAAAGT	0.358																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(6259-6261)Att>Ctt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							51.0	48.0	49.0					5																	70837939		1820	4078	5898	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70837939A>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6259A>C	5.37:g.70837939A>C	ENSP00000351575:p.Ile2087Leu					BDP1_ENST00000380675.2_Missense_Mutation_p.I223L	p.I2087L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	30	6522	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2087					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6259A>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	8.001	0.755462	0.15846	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.43294	3.87;0.95	5.1	-10.2	0.00374	.	1.202140	0.05748	N	0.602619	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.11329	0.006;0.002	T	0.25433	-1.0132	10	0.62326	D	0.03	.	2.192	0.03901	0.5127:0.1001:0.1728:0.2144	.	2087;2087	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	L	2087;1635;223;223	ENSP00000351575:I2087L;ENSP00000370050:I223L	ENSP00000351575:I2087L	I	+	1	0	BDP1	70873695	0.000000	0.05858	0.016000	0.15963	0.079000	0.17450	-1.544000	0.02192	-1.535000	0.01740	-0.248000	0.11899	ATT		0.358	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		9	17	0	0	0	1	0	9	17				
TFAP2B	7021	broad.mit.edu	37	6	50807964	50807964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50807964G>T	ENST00000393655.3	+	6	1205	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	TFAP2B_ENST00000263046.4_Missense_Mutation_p.D355Y	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	346					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCAGCACACAGACCCGAGTGA	0.527																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1063-1065)Gac>Tac		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							107.0	110.0	109.0					6																	50807964		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807964G>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1036G>T	6.37:g.50807964G>T	ENSP00000377265:p.Asp346Tyr					TFAP2B_ENST00000393655.3_Missense_Mutation_p.D346Y	p.D355Y			Q92481	AP2B_HUMAN			7	1229	+	Lung NSC(77;0.156)		346					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1063G>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950895	0.92660	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96913	-4.17;-4.17	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98917	1.0782	10	0.87932	D	0	-23.4328	19.7769	0.96398	0.0:0.0:1.0:0.0	.	346	Q92481	AP2B_HUMAN	Y	346;355	ENSP00000377265:D346Y;ENSP00000263046:D355Y	ENSP00000263046:D355Y	D	+	1	0	TFAP2B	50915923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.007000	0.88571	2.692000	0.91855	0.655000	0.94253	GAC		0.527	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		25	53	1	0	7.92952e-12	1	9.92272e-12	25	53				
QSER1	79832	broad.mit.edu	37	11	32953418	32953418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32953418C>T	ENST00000399302.2	+	4	562	c.227C>T	c.(226-228)tCa>tTa	p.S76L	QSER1_ENST00000527788.1_Missense_Mutation_p.S76L|QSER1_ENST00000527250.1_3'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	76										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GCTACCACTTCACCTTTGGTG	0.428																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(226-228)tCa>tTa		glutamine and serine rich 1							167.0	163.0	164.0					11																	32953418		1971	4148	6119	SO:0001583	missense	79832							g.chr11:32953418C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.227C>T	11.37:g.32953418C>T	ENSP00000382241:p.Ser76Leu					QSER1_ENST00000527788.1_Missense_Mutation_p.S76L|QSER1_ENST00000527250.1_3'UTR	p.S76L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	562	+	Breast(20;0.158)		76					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.227C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051654	0.75960	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.45276	0.9;0.9	5.6	5.6	0.85130	.	0.102052	0.41605	D	0.000843	T	0.48484	0.1502	L	0.42245	1.32	0.42057	D	0.991144	P;P	0.41848	0.763;0.651	P;B	0.47346	0.544;0.343	T	0.42481	-0.9449	10	0.49607	T	0.09	.	19.6091	0.95594	0.0:1.0:0.0:0.0	.	76;76	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	L	76	ENSP00000382241:S76L;ENSP00000432766:S76L	ENSP00000078652:S76L	S	+	2	0	QSER1	32909994	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.650000	0.89964	0.655000	0.94253	TCA		0.428	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		4	103	0	0	0	1	0	4	103				
KIFC3	3801	broad.mit.edu	37	16	57832019	57832019	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57832019G>T	ENST00000379655.4	-	2	394	c.137C>A	c.(136-138)cCt>cAt	p.P46H	KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000421376.2_5'Flank|KIFC3_ENST00000539578.1_5'Flank|KIFC3_ENST00000465878.2_5'Flank|KIFC3_ENST00000541240.1_Missense_Mutation_p.P68H|KIFC3_ENST00000445690.2_Missense_Mutation_p.P46H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	46					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTGTGGGAAAGGGCGGGCGGC	0.672																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(136-138)cCt>cAt		kinesin family member C3							7.0	7.0	7.0					16																	57832019		2157	4259	6416	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57832019G>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.137C>A	16.37:g.57832019G>T	ENSP00000368976:p.Pro46His					KIFC3_ENST00000541240.1_Missense_Mutation_p.P68H|KIFC3_ENST00000445690.2_Missense_Mutation_p.P46H	p.P46H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			2	394	-		all_neural(199;0.224)	46					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.137C>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263302	0.80358	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000541240	D;D;D	0.88431	-2.38;-2.38;-2.38	5.42	5.42	0.78866	.	0.536026	0.16217	N	0.224201	D	0.88407	0.6428	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.89328	0.3645	10	0.52906	T	0.07	.	14.709	0.69215	0.0:0.0:1.0:0.0	.	68;46	B7Z484;Q9BVG8	.;KIFC3_HUMAN	H	46;46;68	ENSP00000368976:P46H;ENSP00000401696:P46H;ENSP00000442008:P68H	ENSP00000368976:P46H	P	-	2	0	KIFC3	56389520	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.992000	0.63889	2.557000	0.86248	0.591000	0.81541	CCT		0.672	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		3	1	1	0	0.115264	1	0.117355	3	1				
MPZL1	9019	broad.mit.edu	37	1	167757089	167757089	+	Silent	SNP	C	C	T	rs139028868	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757089C>T	ENST00000359523.2	+	6	943	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Silent_p.S97S	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	247					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TAGACCACTCCGGCGGACATC	0.463													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		21066	0.0		0.0	False		,,,				2504	0.0					ENST00000359523.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(739-741)tcC>tcT		myelin protein zero-like 1		C	,,	4,4402	8.1+/-20.4	0,4,2199	105.0	97.0	100.0		291,741,	-7.2	0.4	1	dbSNP_134	100	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous,utr-3	MPZL1	NM_001146191.1,NM_003953.5,NM_024569.4	,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,	97/120,247/270,	167757089	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167757089C>T	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.741C>T	1.37:g.167757089C>T						MPZL1_ENST00000392121.3_Silent_p.S97S|MPZL1_ENST00000403379.3_3'UTR	p.S247S	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN			6	943	+	all_hematologic(923;0.215)		247					B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Silent	SNP	ENST00000359523.2	37	c.741C>T	CCDS1264.1																																																																																				0.463	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		18	20	0	0	0	1	0	18	20				
RTTN	25914	broad.mit.edu	37	18	67725039	67725039	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67725039C>T	ENST00000255674.6	-	37	5256	c.4970G>A	c.(4969-4971)tGt>tAt	p.C1657Y	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1657					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTCCTGGACACATGTCTGTAT	0.413																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4969-4971)tGt>tAt		rotatin							104.0	101.0	102.0					18																	67725039		1984	4174	6158	SO:0001583	missense	25914						binding	g.chr18:67725039C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4970G>A	18.37:g.67725039C>T	ENSP00000255674:p.Cys1657Tyr					RTTN_ENST00000454359.1_3'UTR	p.C1657Y	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			37	5256	-		Esophageal squamous(42;0.129)	1657					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4970G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461830	0.26248	.	.	ENSG00000176225	ENST00000255674	T	0.53423	0.62	5.21	4.32	0.51571	Armadillo-like helical (1);	0.219167	0.48767	D	0.000173	T	0.37945	0.1022	L	0.51422	1.61	0.23325	N	0.9979	B	0.22683	0.073	B	0.28784	0.094	T	0.33979	-0.9847	10	0.02654	T	1	.	11.3035	0.49320	0.182:0.818:0.0:0.0	.	1657	Q86VV8	RTTN_HUMAN	Y	1657	ENSP00000255674:C1657Y	ENSP00000255674:C1657Y	C	-	2	0	RTTN	65876019	0.000000	0.05858	0.008000	0.14137	0.211000	0.24417	0.547000	0.23299	1.290000	0.44636	0.650000	0.86243	TGT		0.413	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		7	25	0	0	0	1	0	7	25				
SVEP1	79987	broad.mit.edu	37	9	113234560	113234560	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113234560G>A	ENST00000401783.2	-	15	2979	c.2643C>T	c.(2641-2643)taC>taT	p.Y881Y	SVEP1_ENST00000302728.8_Silent_p.Y881Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.Y858Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	881					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAAGTCATCGTAAGAGTAAT	0.478																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(2641-2643)taC>taT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							91.0	94.0	93.0					9																	113234560		2017	4187	6204	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113234560G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2643C>T	9.37:g.113234560G>A						SVEP1_ENST00000302728.8_Silent_p.Y881Y|SVEP1_ENST00000374469.1_Silent_p.Y858Y|SVEP1_ENST00000467821.1_5'UTR	p.Y881Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			15	2979	-			881					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.2643C>T	CCDS48004.1																																																																																				0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	50	0	0	0	1	0	32	50				
FAM175A	84142	broad.mit.edu	37	4	84383808	84383808	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383808G>T	ENST00000321945.7	-	9	1152	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.A299A	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	348			A -> T (common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:18695986}.		chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTAAGTCTAAGGCTTTATGCT	0.393																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(1042-1044)gcC>gcA		family with sequence similarity 175, member A							241.0	207.0	219.0					4																	84383808		2203	4300	6503	SO:0001819	synonymous_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84383808G>T	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.1044C>A	4.37:g.84383808G>T						MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.A299A	p.A348A	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			9	1152	-			348		A -> T (common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536).			A5JJ07|Q9H8I1|Q9H9N4	Silent	SNP	ENST00000321945.7	37	c.1044C>A	CCDS3605.2																																																																																				0.393	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		10	152	1	0	7.48243e-07	1	8.70085e-07	10	152				
COBL	23242	broad.mit.edu	37	7	51095461	51095461	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095461G>T	ENST00000265136.7	-	10	3497	c.3332C>A	c.(3331-3333)tCt>tAt	p.S1111Y	COBL_ENST00000395542.2_Missense_Mutation_p.S1193Y	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1111	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATCAGGGCAGAGTGCAGGGA	0.542																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3577-3579)tCt>tAt		cordon-bleu WH2 repeat protein							146.0	126.0	132.0					7																	51095461		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095461G>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3332C>A	7.37:g.51095461G>T	ENSP00000265136:p.Ser1111Tyr					COBL_ENST00000265136.7_Missense_Mutation_p.S1111Y	p.S1193Y			O75128	COBL_HUMAN			12	3762	-	Glioma(55;0.08)		1111					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3578C>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915941	0.52546	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.27	3.45	0.39498	Actin-binding WH2 (3);	0.623113	0.14311	N	0.327675	T	0.69984	0.3172	M	0.63843	1.955	0.31829	N	0.62493	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.991;0.991;1.0;0.998;0.999	T	0.74390	-0.3681	10	0.87932	D	0	.	14.6979	0.69134	0.0:0.692:0.308:0.0	.	1111;1168;1111;1193;653	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	Y	1111;1003;996;1193	ENSP00000265136:S1111Y;ENSP00000401204:S1003Y;ENSP00000413498:S996Y;ENSP00000378912:S1193Y	ENSP00000265136:S1111Y	S	-	2	0	COBL	51062955	0.993000	0.37304	0.778000	0.31720	0.565000	0.35776	2.627000	0.46469	0.580000	0.29522	-0.344000	0.07964	TCT		0.542	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		6	128	1	0	5.68852e-11	1	7.05143e-11	6	128				
SSC4D	136853	broad.mit.edu	37	7	76024571	76024571	+	Splice_Site	SNP	G	G	A	rs201421823		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76024571G>A	ENST00000275560.3	-	7	1292	c.945C>T	c.(943-945)tcC>tcT	p.S315S	SRCRB4D_ENST00000492979.2_5'Flank|ZP3_ENST00000336517.4_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCTCTTTACCGGACGGATCTG	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17322	0.0		0.0	False		,,,				2504	0.0					ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.e7+1		scavenger receptor cysteine rich domain containing, group B (4 domains)							75.0	71.0	72.0					7																	76024571		2203	4300	6503	SO:0001630	splice_region_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76024571G>A																												ENST00000275560.3:c.946+1C>T	7.37:g.76024571G>A							p.S315_splice	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			7	1292	-			315						Splice_Site	SNP	ENST00000275560.3	37	c.946_splice	CCDS5585.1																																																																																				0.632	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		Silent	14	51	0	0	0	1	0	14	51				
KRT8	3856	broad.mit.edu	37	12	53292268	53292268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53292268G>A	ENST00000552551.1	-	8	1670	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	KRT8_ENST00000293308.6_Missense_Mutation_p.T413M|KRT8_ENST00000552150.1_Missense_Mutation_p.T441M|KRT8_ENST00000546897.1_Missense_Mutation_p.T413M			P05787	K2C8_HUMAN	keratin 8	413	Tail.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GGTGGTCTTCGTATGAATACT	0.622																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(1237-1239)aCg>aTg		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						32.0	30.0	31.0					12																	53292268		2203	4300	6503	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53292268G>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1238C>T	12.37:g.53292268G>A	ENSP00000447566:p.Thr413Met					KRT8_ENST00000546897.1_Missense_Mutation_p.T413M|KRT8_ENST00000293308.6_Missense_Mutation_p.T413M|KRT8_ENST00000552150.1_Missense_Mutation_p.T441M	p.T413M			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	8	1670	-			413			Tail.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.1238C>T	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387829	0.25031	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	D;D;D;D	0.82803	-1.57;-1.57;-1.57;-1.65	4.32	4.32	0.51571	.	0.248154	0.38778	N	0.001579	T	0.69762	0.3147	N	0.16016	0.355	0.31046	N	0.71575	B;B	0.20368	0.044;0.026	B;B	0.21708	0.036;0.016	T	0.70204	-0.4936	10	0.54805	T	0.06	.	10.9454	0.47297	0.0964:0.0:0.9036:0.0	.	441;413	F8VXB4;P05787	.;K2C8_HUMAN	M	413;413;413;441	ENSP00000447566:T413M;ENSP00000293308:T413M;ENSP00000447402:T413M;ENSP00000449404:T441M	ENSP00000293308:T413M	T	-	2	0	KRT8	51578535	0.022000	0.18835	0.979000	0.43373	0.924000	0.55760	1.742000	0.38248	2.320000	0.78422	0.561000	0.74099	ACG		0.622	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		3	11	0	0	0	1	0	3	11				
PDC	5132	broad.mit.edu	37	1	186415619	186415619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186415619C>A	ENST00000391997.2	-	3	239	c.152G>T	c.(151-153)aGg>aTg	p.R51M	PDC_ENST00000497198.1_De_novo_Start_InFrame|PDC_ENST00000456239.2_De_novo_Start_InFrame|PDC_ENST00000340129.5_Missense_Mutation_p.R51M	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	51					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGACATTTGCCTGAGAATCTC	0.358																																						ENST00000391997.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(151-153)aGg>aTg		phosducin							136.0	129.0	131.0					1																	186415619		2203	4300	6503	SO:0001583	missense	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186415619C>A	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.152G>T	1.37:g.186415619C>A	ENSP00000375855:p.Arg51Met					PDC_ENST00000340129.5_Missense_Mutation_p.R51M|PDC_ENST00000497198.1_De_novo_Start_InFrame|PDC_ENST00000456239.2_De_novo_Start_InFrame	p.R51M	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	3	239	-		Breast(1374;1.53e-05)	51					Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	c.152G>T	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297606	0.60086	.	.	ENSG00000116703	ENST00000391997;ENST00000340129	T;T	0.51574	0.7;0.7	5.36	4.45	0.53987	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.041428	0.85682	D	0.000000	T	0.60818	0.2298	M	0.77820	2.39	0.80722	D	1	D	0.59767	0.986	P	0.52454	0.699	T	0.68025	-0.5518	10	0.87932	D	0	-4.3784	14.0691	0.64849	0.0:0.9273:0.0:0.0727	.	51	P20941	PHOS_HUMAN	M	51	ENSP00000375855:R51M;ENSP00000342033:R51M	ENSP00000342033:R51M	R	-	2	0	PDC	184682242	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.631000	0.67812	1.259000	0.44117	0.591000	0.81541	AGG		0.358	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		4	88	1	0	2.56e-06	1	2.9446e-06	4	88				
ATM	472	broad.mit.edu	37	11	108122575	108122575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108122575G>A	ENST00000452508.2	+	12	1808	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	ATM_ENST00000278616.4_Missense_Mutation_p.C540Y			Q13315	ATM_HUMAN	ATM serine/threonine kinase	540			C -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.C540Y(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCTGCAGTATGCTGTTTGACT	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Substitution - Missense(1)	p.C540Y(1)	large_intestine(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1618-1620)tGc>tAc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							142.0	122.0	129.0					11																	108122575		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108122575G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1619G>A	11.37:g.108122575G>A	ENSP00000388058:p.Cys540Tyr	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.C540Y	p.C540Y	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	11	2004	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	540		C -> Y (in a colorectal adenocarcinoma sample; somatic mutation).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1619G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	0.896	-0.723732	0.03158	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.75704	-0.96;-0.96;-0.96	5.9	2.81	0.32909	Armadillo-type fold (1);	0.455403	0.26959	N	0.021634	T	0.63593	0.2524	L	0.60455	1.87	0.24205	N	0.995498	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	10	0.17832	T	0.49	.	6.0705	0.19887	0.2028:0.2592:0.5379:0.0	.	540	Q13315	ATM_HUMAN	Y	540	ENSP00000435747:C540Y;ENSP00000278616:C540Y;ENSP00000388058:C540Y	ENSP00000278616:C540Y	C	+	2	0	ATM	107627785	0.662000	0.27439	0.995000	0.50966	0.829000	0.46940	0.978000	0.29488	0.798000	0.33994	0.455000	0.32223	TGC		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		36	40	0	0	0	1	0	36	40				
WARS	7453	broad.mit.edu	37	14	100801232	100801232	+	Silent	SNP	G	G	A	rs187196177		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100801232G>A	ENST00000355338.2	-	11	2014	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Silent_p.L466L|WARS_ENST00000556645.1_Silent_p.L425L|WARS_ENST00000557135.1_Silent_p.L466L|WARS_ENST00000344102.5_Silent_p.L425L|WARS_ENST00000358655.4_Silent_p.L425L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	466					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCGAAGGACAGCTTCCGGGGA	0.493																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1396-1398)Ctg>Ttg		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						147.0	126.0	133.0					14																	100801232		2203	4300	6503	SO:0001819	synonymous_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100801232G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1396C>T	14.37:g.100801232G>A						WARS_ENST00000358655.4_Silent_p.L425L|WARS_ENST00000344102.5_Silent_p.L425L|WARS_ENST00000557135.1_Silent_p.L466L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Silent_p.L466L|WARS_ENST00000556645.1_Silent_p.L425L	p.L466L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			11	2014	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	466					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	c.1396C>T	CCDS9960.1																																																																																				0.493	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		20	43	0	0	0	1	0	20	43				
CMIP	80790	broad.mit.edu	37	16	81725387	81725387	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81725387T>C	ENST00000537098.3	+	11	1468	c.1396T>C	c.(1396-1398)Tat>Cat	p.Y466H	CMIP_ENST00000398040.4_Missense_Mutation_p.Y313H|CMIP_ENST00000539778.2_Missense_Mutation_p.Y372H|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	466						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						TAGGTCAGACTATGATGACTG	0.527																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1396-1398)Tat>Cat		c-Maf inducing protein							121.0	119.0	119.0					16																	81725387		2002	4168	6170	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81725387T>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1396T>C	16.37:g.81725387T>C	ENSP00000446100:p.Tyr466His					CMIP_ENST00000398040.4_Missense_Mutation_p.Y313H|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.Y372H	p.Y466H	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			11	1468	+			432					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1396T>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559432	0.65538	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.15017	2.46;2.46	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.986;0.986;0.986	T	0.07065	-1.0792	10	0.87932	D	0	.	15.1142	0.72388	0.0:0.0:0.0:1.0	.	313;372;466	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	H	466;372;372;279	ENSP00000446100:Y466H;ENSP00000440401:Y372H	ENSP00000381120:Y372H	Y	+	1	0	CMIP	80282888	1.000000	0.71417	0.994000	0.49952	0.469000	0.32828	7.448000	0.80631	1.961000	0.56991	0.533000	0.62120	TAT		0.527	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		9	15	0	0	0	1	0	9	15				
CLDN2	9075	broad.mit.edu	37	X	106171567	106171567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171567G>A	ENST00000541806.1	+	2	628	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	CLDN2_ENST00000336803.1_Missense_Mutation_p.G37S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G37S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	37					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTCTTATGTCGGTGCCAGCAT	0.547																																						ENST00000541806.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(109-111)Ggt>Agt		claudin 2							101.0	85.0	90.0					X																	106171567		2203	4300	6503	SO:0001583	missense	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171567G>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.109G>A	X.37:g.106171567G>A	ENSP00000441283:p.Gly37Ser					CLDN2_ENST00000336803.1_Missense_Mutation_p.G37S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G37S	p.G37S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN			2	628	+			37					B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.109G>A	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154817	0.78114	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.90069	-2.61;-2.61;-2.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.94298	0.8168	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94866	0.8026	10	0.87932	D	0	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	37	P57739	CLD2_HUMAN	S	37	ENSP00000441283:G37S;ENSP00000443230:G37S;ENSP00000336571:G37S	ENSP00000336571:G37S	G	+	1	0	CLDN2	106058223	1.000000	0.71417	0.944000	0.38274	0.695000	0.40330	9.807000	0.99171	2.348000	0.79779	0.600000	0.82982	GGT		0.547	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			5	94	0	0	0	1	0	5	94				
CPA1	1357	broad.mit.edu	37	7	130020367	130020367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130020367G>A	ENST00000011292.3	+	1	156	c.6G>A	c.(4-6)cgG>cgA	p.R2R	CPA1_ENST00000484324.1_5'Flank	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	2					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAGCATGCGGGGGTTGCTGG	0.632																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(4-6)cgG>cgA		carboxypeptidase A1 (pancreatic)							76.0	74.0	75.0					7																	130020367		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130020367G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.6G>A	7.37:g.130020367G>A							p.R2R	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			1	156	+	Melanoma(18;0.0435)		2					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.6G>A	CCDS5820.1																																																																																				0.632	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		47	41	0	0	0	1	0	47	41				
TBX15	6913	broad.mit.edu	37	1	119466177	119466177	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119466177C>T	ENST00000369429.3	-	5	752	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TBX15_ENST00000207157.3_Missense_Mutation_p.R142H			Q96SF7	TBX15_HUMAN	T-box 15	248					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R142H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAGTCTTTGCGAATCACATG	0.453																																						ENST00000369429.3																			1	Substitution - Missense(1)	p.R142H(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(742-744)cGc>cAc		T-box 15							173.0	166.0	168.0					1																	119466177		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119466177C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.743G>A	1.37:g.119466177C>T	ENSP00000358437:p.Arg248His					TBX15_ENST00000207157.3_Missense_Mutation_p.R142H	p.R248H			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	5	752	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	248					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.743G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.329657	0.95733	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429	T;T	0.81163	-1.46;-1.46	5.78	5.78	0.91487	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.89748	0.3938	10	0.66056	D	0.02	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	248	Q96SF7	TBX15_HUMAN	H	12;142;248	ENSP00000207157:R142H;ENSP00000358437:R248H	ENSP00000207157:R142H	R	-	2	0	TBX15	119267700	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.763000	0.68818	2.730000	0.93505	0.655000	0.94253	CGC		0.453	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		15	39	0	0	0	1	0	15	39				
MAP2K6	5608	broad.mit.edu	37	17	67537834	67537834	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67537834C>A	ENST00000590474.1	+	12	1232	c.945C>A	c.(943-945)acC>acA	p.T315T	MAP2K6_ENST00000589647.1_Silent_p.T259T	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	315	DVD domain.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CATTTTTCACCCTACATGAAT	0.358																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(943-945)acC>acA		mitogen-activated protein kinase kinase 6							95.0	93.0	94.0					17																	67537834		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67537834C>A	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.945C>A	17.37:g.67537834C>A						MAP2K6_ENST00000589647.1_Silent_p.T259T	p.T315T	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			12	1232	+	Breast(10;6.05e-10)		315						Silent	SNP	ENST00000590474.1	37	c.945C>A	CCDS11686.1																																																																																				0.358	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		6	74	1	0	0.00116845	1	0.00124821	6	74				
ESYT1	23344	broad.mit.edu	37	12	56532196	56532196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56532196G>T	ENST00000394048.5	+	22	2610	c.2346G>T	c.(2344-2346)caG>caT	p.Q782H	ESYT1_ENST00000541590.1_Missense_Mutation_p.Q792H|ESYT1_ENST00000267113.4_Missense_Mutation_p.Q792H|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	782					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGGTGCTGCAGGTGAATAGTT	0.592																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2344-2346)caG>caT		extended synaptotagmin-like protein 1							36.0	40.0	39.0					12																	56532196		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56532196G>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2346G>T	12.37:g.56532196G>T	ENSP00000377612:p.Gln782His					ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.Q792H|ESYT1_ENST00000267113.4_Missense_Mutation_p.Q792H	p.Q782H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			22	2610	+			782					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2346G>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179297	0.21787	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.56611	0.45;0.47;0.47	5.38	3.55	0.40652	.	0.118100	0.64402	D	0.000018	T	0.59528	0.2200	L	0.42245	1.32	0.45567	D	0.998512	B;D	0.71674	0.007;0.998	B;D	0.76071	0.007;0.987	T	0.55392	-0.8148	10	0.38643	T	0.18	-22.1729	7.843	0.29410	0.257:0.0:0.743:0.0	.	792;782	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	782;736;792;792	ENSP00000377612:Q782H;ENSP00000267113:Q792H;ENSP00000445952:Q792H	ENSP00000267113:Q792H	Q	+	3	2	ESYT1	54818463	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	1.250000	0.32850	0.755000	0.32990	-0.254000	0.11334	CAG		0.592	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		3	8	1	0	0.184627	1	0.186383	3	8				
HGS	9146	broad.mit.edu	37	17	79654062	79654062	+	Silent	SNP	C	C	T	rs201457650		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79654062C>T	ENST00000329138.4	+	4	363	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	76	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACTGTGGCCAGACAGTTC	0.622																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(226-228)ggC>ggT		hepatocyte growth factor-regulated tyrosine kinase substrate		C		1,4399	2.1+/-5.4	0,1,2199	95.0	67.0	77.0		228	-9.2	1.0	17		77	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	HGS	NM_004712.4		0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154		76/778	79654062	2,12992	2200	4297	6497	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79654062C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.228C>T	17.37:g.79654062C>T							p.G76G	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	363	+	all_neural(118;0.0878)|all_lung(278;0.23)		76			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.228C>T	CCDS11784.1																																																																																				0.622	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		6	10	0	0	0	1	0	6	10				
SLC25A20	788	broad.mit.edu	37	3	48896032	48896032	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48896032C>A	ENST00000319017.4	-	8	949	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	SLC25A20_ENST00000544097.1_Missense_Mutation_p.D201Y|SLC25A20_ENST00000430379.1_Missense_Mutation_p.D178Y	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	251					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTCAGCACATCTCTGAAACCA	0.498																																						ENST00000319017.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13						c.(751-753)Gat>Tat		solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	L-Carnitine(DB00583)						123.0	112.0	116.0					3																	48896032		2203	4300	6503	SO:0001583	missense	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48896032C>A	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.751G>T	3.37:g.48896032C>A	ENSP00000326305:p.Asp251Tyr					SLC25A20_ENST00000430379.1_Missense_Mutation_p.D178Y|SLC25A20_ENST00000544097.1_Missense_Mutation_p.D201Y	p.D251Y	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	8	949	-			251					B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	c.751G>T	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921011	0.92249	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.81163	-1.46;-1.46;-1.46	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92116	0.7501	M	0.92923	3.36	0.80722	D	1	D;D	0.58620	0.983;0.98	D;D	0.65684	0.937;0.935	D	0.93459	0.6809	10	0.87932	D	0	-31.8057	19.3292	0.94278	0.0:1.0:0.0:0.0	.	178;251	C9JPE1;O43772	.;MCAT_HUMAN	Y	178;251;201	ENSP00000388986:D178Y;ENSP00000326305:D251Y;ENSP00000438731:D201Y	ENSP00000326305:D251Y	D	-	1	0	SLC25A20	48871036	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.516000	0.81772	2.672000	0.90937	0.650000	0.86243	GAT		0.498	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		45	80	1	0	1.6237e-14	1	2.07233e-14	45	80				
PGBD1	84547	broad.mit.edu	37	6	28269621	28269621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269621G>A	ENST00000405948.2	+	7	2410	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E664K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	664						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TATGAATGTAGAACATATGAA	0.383																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1990-1992)Gaa>Aaa		piggyBac transposable element derived 1							86.0	88.0	87.0					6																	28269621		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269621G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1990G>A	6.37:g.28269621G>A	ENSP00000385213:p.Glu664Lys					PGBD1_ENST00000259883.3_Missense_Mutation_p.E664K	p.E664K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2410	+			664					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1990G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967648	0.18659	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.18338	2.22;2.22	4.84	4.84	0.62591	.	0.312328	0.24815	N	0.035365	T	0.03178	0.0093	N	0.10972	0.075	0.29507	N	0.854513	B	0.20550	0.046	B	0.31869	0.137	T	0.30592	-0.9973	10	0.02654	T	1	-16.9127	13.6577	0.62348	0.0:0.0:1.0:0.0	.	664	Q96JS3	PGBD1_HUMAN	K	664	ENSP00000385213:E664K;ENSP00000259883:E664K	ENSP00000259883:E664K	E	+	1	0	PGBD1	28377600	0.989000	0.36119	0.980000	0.43619	0.996000	0.88848	2.500000	0.45381	2.683000	0.91414	0.655000	0.94253	GAA		0.383	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			37	53	0	0	0	1	0	37	53				
TRPV6	55503	broad.mit.edu	37	7	142569693	142569693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142569693G>A	ENST00000359396.3	-	15	2190	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	649					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGAAGGCCTGTGCGTAGCGT	0.572																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1945-1947)Cag>Tag		transient receptor potential cation channel, subfamily V, member 6							118.0	113.0	115.0					7																	142569693		2203	4300	6503	SO:0001587	stop_gained	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569693G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1945C>T	7.37:g.142569693G>A	ENSP00000352358:p.Gln649*						p.Q649*	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			15	2190	-	Melanoma(164;0.059)		649					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Nonsense_Mutation	SNP	ENST00000359396.3	37	c.1945C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	38	6.865073	0.97897	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	.	.	.	5.41	2.51	0.30379	.	0.374310	0.30126	N	0.010358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-5.8488	8.6155	0.33829	0.0:0.1518:0.4365:0.4117	.	.	.	.	X	649;481	.	ENSP00000310825:Q481X	Q	-	1	0	TRPV6	142279815	0.571000	0.26659	0.404000	0.26397	0.662000	0.39071	1.667000	0.37471	0.224000	0.20940	-0.314000	0.08810	CAG		0.572	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		27	86	0	0	0	1	0	27	86				
ZNF81	347344	broad.mit.edu	37	X	47774563	47774563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47774563G>A	ENST00000376954.1	+	6	886	c.518G>A	c.(517-519)gGa>gAa	p.G173E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G173E			P51508	ZNF81_HUMAN	zinc finger protein 81	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AAAGACTTTGGAAAATTTGTT	0.333																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(517-519)gGa>gAa		zinc finger protein 81							37.0	34.0	35.0					X																	47774563		1809	4060	5869	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774563G>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.518G>A	X.37:g.47774563G>A	ENSP00000366153:p.Gly173Glu					ZNF81_ENST00000338637.7_Missense_Mutation_p.G173E	p.G173E			P51508	ZNF81_HUMAN			6	886	+		all_lung(315;0.0973)	173					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.518G>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	1.228	-0.624948	0.03636	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.06608	3.28;3.28	4.04	1.53	0.23141	.	0.787008	0.10890	N	0.622824	T	0.07548	0.0190	M	0.62266	1.93	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38329	-0.9666	10	0.28530	T	0.3	.	5.8852	0.18878	0.4641:0.0:0.5359:0.0	.	173	P51508	ZNF81_HUMAN	E	173	ENSP00000366153:G173E;ENSP00000341151:G173E	ENSP00000341151:G173E	G	+	2	0	ZNF81	47659507	0.007000	0.16637	0.017000	0.16124	0.504000	0.33889	0.242000	0.18087	0.199000	0.20427	0.600000	0.82982	GGA		0.333	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		16	33	0	0	0	1	0	16	33				
CBX6	23466	broad.mit.edu	37	22	39262895	39262895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262895G>A	ENST00000407418.3	-	5	681	c.558C>T	c.(556-558)ggC>ggT	p.G186G	CBX6_ENST00000216083.6_Silent_p.G168G			O95503	CBX6_HUMAN	chromobox homolog 6	186					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					cgcccccgccgccAGCGCCCT	0.677																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(556-558)ggC>ggT		chromobox homolog 6							9.0	11.0	10.0					22																	39262895		2184	4225	6409	SO:0001819	synonymous_variant	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262895G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.558C>T	22.37:g.39262895G>A						CBX6_ENST00000216083.6_Silent_p.G168G	p.G186G			O95503	CBX6_HUMAN			5	681	-	Melanoma(58;0.04)		186					A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	c.558C>T	CCDS13980.1																																																																																				0.677	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		7	11	0	0	0	1	0	7	11				
OBSCN	84033	broad.mit.edu	37	1	228399636	228399636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228399636C>T	ENST00000422127.1	+	2	196	c.152C>T	c.(151-153)gCg>gTg	p.A51V	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.A51V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A51V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	51	Ig-like 1.		A -> T (in dbSNP:rs1771487). {ECO:0000269|PubMed:11448995}.		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCGGTGGCGGCCGGCGCG	0.692																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(151-153)gCg>gTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							7.0	9.0	9.0					1																	228399636		1896	3970	5866	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228399636C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.152C>T	1.37:g.228399636C>T	ENSP00000409493:p.Ala51Val					OBSCN_ENST00000284548.11_Missense_Mutation_p.A51V|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A51V	p.A51V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			2	226	+		Prostate(94;0.0405)	51		A -> T (in dbSNP:rs1771487).	Ig-like 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.152C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	7.660	0.684832	0.14973	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.68025	-0.3;-0.3	4.85	2.56	0.30785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.492187	0.19374	N	0.115840	T	0.40619	0.1124	N	0.11154	0.105	0.21147	N	0.999776	P;P	0.39847	0.691;0.642	B;B	0.30716	0.119;0.073	T	0.16600	-1.0397	10	0.23302	T	0.38	.	12.6468	0.56740	0.6752:0.3248:0.0:0.0	.	51;51	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	51	ENSP00000284548:A51V;ENSP00000409493:A51V	ENSP00000284548:A51V	A	+	2	0	OBSCN	226466259	0.024000	0.19004	0.928000	0.36995	0.319000	0.28217	1.842000	0.39250	0.717000	0.32145	-0.410000	0.06199	GCG		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	7	0	0	0	1	0	6	7				
HNRNPLL	92906	broad.mit.edu	37	2	38795439	38795439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38795439G>A	ENST00000449105.3	-	12	1814	c.1475C>T	c.(1474-1476)cCt>cTt	p.P492L	HNRNPLL_ENST00000608859.1_Splice_Site_p.P492L|HNRNPLL_ENST00000409328.1_Splice_Site_p.P458L|HNRNPLL_ENST00000378915.3_Splice_Site_p.P458L|HNRNPLL_ENST00000409636.1_Splice_Site_p.P487L			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	492					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										TTTGGCTGAAGCTAAAACAAA	0.388																																						ENST00000449105.2																			0											c.e12-1		heterogeneous nuclear ribonucleoprotein L-like							92.0	88.0	89.0					2																	38795439		2203	4300	6503	SO:0001630	splice_region_variant	92906							g.chr2:38795439G>A	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1475-1C>T	2.37:g.38795439G>A						HNRNPLL_ENST00000409328.1_Splice_Site_p.P458_splice|HNRNPLL_ENST00000409636.1_Splice_Site_p.P487_splice|HNRNPLL_ENST00000378915.3_Splice_Site_p.P458_splice	p.P492_splice	NM_138394.3	NP_612403.2					12	1814	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Splice_Site	SNP	ENST00000449105.3	37	c.1474_splice		.	.	.	.	.	.	.	.	.	.	G	22.6	4.307463	0.81247	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000417371	.	.	.	5.4	5.4	0.78164	Nucleotide-binding, alpha-beta plait (1);	0.057199	0.64402	D	0.000001	T	0.58047	0.2095	L	0.46157	1.445	0.80722	D	1	B;B;B	0.23442	0.012;0.012;0.085	B;B;B	0.20384	0.006;0.006;0.029	T	0.52837	-0.8522	9	0.30078	T	0.28	.	19.1906	0.93664	0.0:0.0:1.0:0.0	.	487;492;492	C9J9G0;D6W592;Q8WVV9	.;.;HNRLL_HUMAN	L	492;487;458;458;44	.	ENSP00000368195:P458L	P	-	2	0	HNRPLL	38648943	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.580000	0.74040	2.541000	0.85698	0.557000	0.71058	CCT		0.388	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394	Missense_Mutation	17	28	0	0	0	1	0	17	28				
BCAR3	8412	broad.mit.edu	37	1	94054696	94054696	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94054696G>A	ENST00000370244.1	-	7	1055	c.767C>T	c.(766-768)aCg>aTg	p.T256M	BCAR3_ENST00000370247.3_Missense_Mutation_p.T165M|BCAR3_ENST00000260502.6_Missense_Mutation_p.T256M|BCAR3_ENST00000370243.1_Missense_Mutation_p.T256M	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	256					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAGGCACCGTCCTGTTGAT	0.672																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(766-768)aCg>aTg		breast cancer anti-estrogen resistance 3							32.0	31.0	32.0					1																	94054696		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054696G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.767C>T	1.37:g.94054696G>A	ENSP00000359264:p.Thr256Met					BCAR3_ENST00000370247.3_Missense_Mutation_p.T165M|BCAR3_ENST00000260502.6_Missense_Mutation_p.T256M|BCAR3_ENST00000370243.1_Missense_Mutation_p.T256M	p.T256M	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	1055	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	256					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.767C>T	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931427	0.52866	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.16	4.23	0.50019	.	0.250733	0.46442	D	0.000296	T	0.53110	0.1776	M	0.80183	2.485	0.80722	D	1	P;B	0.43231	0.801;0.386	B;B	0.37780	0.258;0.077	T	0.66496	-0.5909	10	0.72032	D	0.01	-15.3786	13.4252	0.61022	0.0763:0.0:0.9237:0.0	.	256;165	O75815;Q5TEW3	BCAR3_HUMAN;.	M	165;256;256;256	ENSP00000359267:T165M;ENSP00000260502:T256M;ENSP00000359264:T256M;ENSP00000359263:T256M	ENSP00000260502:T256M	T	-	2	0	BCAR3	93827284	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	1.772000	0.38552	2.575000	0.86900	0.561000	0.74099	ACG		0.672	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	24	0	0	0	1	0	4	24				
GUCY1A3	2982	broad.mit.edu	37	4	156634624	156634624	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156634624C>T	ENST00000296518.7	+	7	1670	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	GUCY1A3_ENST00000513574.1_Silent_p.I487I|GUCY1A3_ENST00000506455.1_Silent_p.I487I|GUCY1A3_ENST00000511507.1_Silent_p.I487I|GUCY1A3_ENST00000393832.3_Silent_p.I229I|GUCY1A3_ENST00000455639.2_Silent_p.I487I|GUCY1A3_ENST00000511108.1_Silent_p.I487I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	487	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTCAGACATCGTTGGGTTCA	0.537																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1459-1461)atC>atT		guanylate cyclase 1, soluble, alpha 3							101.0	92.0	95.0					4																	156634624		2203	4300	6503	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634624C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1461C>T	4.37:g.156634624C>T						GUCY1A3_ENST00000393832.3_Silent_p.I229I|GUCY1A3_ENST00000506455.1_Silent_p.I487I|GUCY1A3_ENST00000455639.2_Silent_p.I487I|GUCY1A3_ENST00000511108.1_Silent_p.I487I|GUCY1A3_ENST00000511507.1_Silent_p.I487I|GUCY1A3_ENST00000513574.1_Silent_p.I487I	p.I487I			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1670	+	all_hematologic(180;0.24)	Renal(120;0.0854)	487			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.1461C>T	CCDS34085.1																																																																																				0.537	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			17	30	0	0	0	1	0	17	30				
USP25	29761	broad.mit.edu	37	21	17246800	17246800	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246800A>G	ENST00000285679.6	+	22	3123	c.2754A>G	c.(2752-2754)ggA>ggG	p.G918G	USP25_ENST00000400183.2_Silent_p.G988G|USP25_ENST00000351097.5_Silent_p.G313G|USP25_ENST00000285681.2_Silent_p.G950G	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	918					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATACAGAGGACATGATGAAG	0.313																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2848-2850)ggA>ggG		ubiquitin specific peptidase 25							150.0	157.0	155.0					21																	17246800		2203	4299	6502	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17246800A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2754A>G	21.37:g.17246800A>G						USP25_ENST00000285679.6_Silent_p.G918G|USP25_ENST00000400183.2_Silent_p.G988G|USP25_ENST00000351097.5_Silent_p.G313G	p.G950G			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	23	3219	+			918					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.2850A>G	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	9.693	1.152513	0.21371	.	.	ENSG00000155313	ENST00000449491	.	.	.	5.71	0.593	0.17478	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38520	-0.9657	4	.	.	.	-23.0436	5.8804	0.18852	0.4522:0.1458:0.402:0.0	.	.	.	.	G	217	.	.	D	+	2	0	USP25	16168671	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.028000	0.30128	0.109000	0.17891	-0.467000	0.05162	GAC		0.313	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			56	63	0	0	0	1	0	56	63				
MIR31HG	554202	broad.mit.edu	37	9	21455840	21455840	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21455840G>A	ENST00000304425.3	-	0	545					NR_027054.1				MIR31 host gene (non-protein coding)																		AACACCTGGAGACCTGCTTGG	0.542																																						ENST00000304425.3																			0																																																			0							g.chr9:21455840G>A	AK124391		9p21.3	2014-07-18			ENSG00000171889	ENSG00000171889		"""-"""	37187	non-coding RNA	RNA, long non-coding						15364902, 22289355, 24631686	Standard	NR_027054		Approved	LOC554202	uc003zpe.2		OTTHUMG00000019681		9.37:g.21455840G>A								NR_027054.1						0	545	-									RNA	SNP	ENST00000304425.3	37																																																																																						0.542	MIR31HG-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000051910.1	NR_027054		3	3	0	0	0	1	0	3	3				
DNHD1	144132	broad.mit.edu	37	11	6587819	6587819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6587819C>T	ENST00000527990.2	+	33	11209	c.11209C>T	c.(11209-11211)Cta>Tta	p.L3737L	DNHD1_ENST00000254579.6_Silent_p.L3737L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3737					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCCAAGTGCTAGGTTGTGA	0.507																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(11209-11211)Cta>Tta		dynein heavy chain domain 1							103.0	99.0	100.0					11																	6587819		1952	4168	6120	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6587819C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11209C>T	11.37:g.6587819C>T						DNHD1_ENST00000527990.2_Silent_p.L3737L	p.L3737L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	11773	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3737					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.11209C>T	CCDS44532.1																																																																																				0.507	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		9	10	0	0	0	1	0	9	10				
UBE3A	7337	broad.mit.edu	37	15	25615895	25615895	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25615895T>A	ENST00000397954.2	-	4	1434	c.1435A>T	c.(1435-1437)Aca>Tca	p.T479S	UBE3A_ENST00000566215.1_Missense_Mutation_p.T456S|UBE3A_ENST00000428984.2_Missense_Mutation_p.T456S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.T456S|UBE3A_ENST00000232165.3_Missense_Mutation_p.T476S			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	479	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAGGGACATGTCATAAAAGAG	0.308																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1426-1428)Aca>Tca		ubiquitin protein ligase E3A							46.0	45.0	45.0					15																	25615895		2203	4299	6502	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25615895T>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1435A>T	15.37:g.25615895T>A	ENSP00000381045:p.Thr479Ser					UBE3A_ENST00000397954.2_Missense_Mutation_p.T479S|UBE3A_ENST00000438097.1_Missense_Mutation_p.T456S|UBE3A_ENST00000566215.1_Missense_Mutation_p.T456S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.T456S	p.T476S	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	2082	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	479			Interaction with HCV core protein.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1426A>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620567	0.28801	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	N	0.08118	0	0.80722	D	1	B;B	0.17268	0.021;0.002	B;B	0.15052	0.012;0.008	T	0.51980	-0.8636	10	0.15952	T	0.53	.	15.1631	0.72801	0.0:0.0:0.0:1.0	.	476;479	Q05086-3;Q05086	.;UBE3A_HUMAN	S	476;476;479;456;456	ENSP00000232165:T476S;ENSP00000381045:T479S;ENSP00000411258:T456S;ENSP00000401265:T456S	ENSP00000232165:T476S	T	-	1	0	UBE3A	23166988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.997000	0.58415	0.383000	0.25322	ACA		0.308	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		4	65	0	0	0	1	0	4	65				
ADAMTS17	170691	broad.mit.edu	37	15	100802609	100802609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100802609C>A	ENST00000268070.4	-	5	926	c.821G>T	c.(820-822)gGg>gTg	p.G274V	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	274	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AATTTTAATCCCCAGGCTCTG	0.383																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(820-822)gGg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							132.0	129.0	130.0					15																	100802609		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100802609C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.821G>T	15.37:g.100802609C>A	ENSP00000268070:p.Gly274Val						p.G274V	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	5	926	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		274			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.821G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652558	0.88056	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.87966	-2.32	5.6	5.6	0.85130	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.94306	0.7541	10	0.87932	D	0	.	19.6251	0.95674	0.0:1.0:0.0:0.0	.	31;274	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	V	274;31	ENSP00000268070:G274V	ENSP00000268070:G274V	G	-	2	0	ADAMTS17	98620132	1.000000	0.71417	0.889000	0.34880	0.918000	0.54935	6.254000	0.72460	2.636000	0.89361	0.655000	0.94253	GGG		0.383	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		5	118	1	0	0.000602214	1	0.000649039	5	118				
MCM3AP	8888	broad.mit.edu	37	21	47663565	47663565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47663565G>A	ENST00000397708.1	-	25	5364	c.5110C>T	c.(5110-5112)Cct>Tct	p.P1704S	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.P1704S|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1704	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGAGGACAGGCTGTGTCTGG	0.612																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5110-5112)Cct>Tct		minichromosome maintenance complex component 3 associated protein							55.0	52.0	53.0					21																	47663565		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663565G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5110C>T	21.37:g.47663565G>A	ENSP00000380820:p.Pro1704Ser					MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.P1704S|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA	p.P1704S			O60318	MCM3A_HUMAN			25	5364	-	Breast(49;0.112)		1704					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5110C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808113	0.70797	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.04360	3.64;3.64	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	M	0.68317	2.08	0.48762	D	0.999702	D;D	0.89917	0.999;1.0	D;D	0.75484	0.968;0.986	T	0.00058	-1.2169	10	0.49607	T	0.09	-21.3363	15.5936	0.76558	0.0:0.1378:0.8622:0.0	.	1704;199	O60318;B3KT88	MCM3A_HUMAN;.	S	1704;1704;199	ENSP00000380820:P1704S;ENSP00000291688:P1704S	ENSP00000291688:P1704S	P	-	1	0	MCM3AP	46487993	1.000000	0.71417	0.969000	0.41365	0.352000	0.29268	5.714000	0.68422	2.538000	0.85594	0.655000	0.94253	CCT		0.612	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		22	26	0	0	0	1	0	22	26				
SF3B5	83443	broad.mit.edu	37	6	144416569	144416569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144416569G>A	ENST00000367569.2	-	1	185	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	22					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TGTCGGCGTGGCCCGTGCCGA	0.592																																						ENST00000367569.2																			0				lung(2)|prostate(1)	3						c.(64-66)ggC>ggT		splicing factor 3b, subunit 5, 10kDa							85.0	69.0	74.0					6																	144416569		2203	4300	6503	SO:0001819	synonymous_variant	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416569G>A	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.66C>T	6.37:g.144416569G>A							p.G22G	NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	185	-			22					B2R568|Q7RTV1	Silent	SNP	ENST00000367569.2	37	c.66C>T	CCDS5204.1																																																																																				0.592	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	NM_031287		19	24	0	0	0	1	0	19	24				
PIH1D2	120379	broad.mit.edu	37	11	111941223	111941223	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111941223A>G	ENST00000280350.4	-	5	972	c.750T>C	c.(748-750)atT>atC	p.I250I	PIH1D2_ENST00000532211.1_Silent_p.I250I|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000528775.1_Silent_p.I250I|PIH1D2_ENST00000431456.1_Silent_p.I250I|PIH1D2_ENST00000530641.1_Silent_p.I250I	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	250										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTTTCAACTCAATTTTCAGAG	0.368																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(748-750)atT>atC		PIH1 domain containing 2							110.0	116.0	114.0					11																	111941223		2201	4297	6498	SO:0001819	synonymous_variant	120379							g.chr11:111941223A>G	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.750T>C	11.37:g.111941223A>G						PIH1D2_ENST00000280350.4_Silent_p.I250I|PIH1D2_ENST00000528775.1_Silent_p.I250I|PIH1D2_ENST00000431456.1_Silent_p.I250I|PIH1D2_ENST00000532211.1_Silent_p.I250I	p.I250I			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	5	1075	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	250					B4DU48|E9PD82	Silent	SNP	ENST00000280350.4	37	c.750T>C	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	A	4.840	0.156083	0.09236	.	.	ENSG00000150773	ENST00000525072	.	.	.	6.17	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.1952	2.1333	0.03755	0.4952:0.2607:0.1186:0.1254	.	.	.	.	R	206	.	.	X	-	1	0	PIH1D2	111446433	1.000000	0.71417	0.998000	0.56505	0.605000	0.37080	1.099000	0.31013	0.523000	0.28482	0.533000	0.62120	TGA		0.368	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		4	157	0	0	0	1	0	4	157				
DGKQ	1609	broad.mit.edu	37	4	955517	955517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:955517C>A	ENST00000273814.3	-	20	2494	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	807					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TACTGGGCAGCTCCACCTCCT	0.652																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2419-2421)gaG>gaT		diacylglycerol kinase, theta 110kDa							61.0	65.0	64.0					4																	955517		2203	4300	6503	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955517C>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2421G>T	4.37:g.955517C>A	ENSP00000273814:p.Glu807Asp						p.E807D	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		20	2494	-			807					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2421G>T	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.249|8.249	0.808686|0.808686	0.16467|0.16467	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814|ENST00000509465	T|.	0.30714|.	1.52|.	5.27|5.27	0.0577|0.0577	0.14324|0.14324	Diacylglycerol kinase, accessory domain (2);|.	0.360834|.	0.30830|.	N|.	0.008787|.	T|T	0.22475|0.22475	0.0542|0.0542	N|N	0.10733|0.10733	0.035|0.035	0.39037|0.39037	D|D	0.960059|0.960059	B;P|.	0.50528|.	0.238;0.936|.	B;P|.	0.54026|.	0.179;0.74|.	T|T	0.07233|0.07233	-1.0783|-1.0783	10|5	0.21540|.	T|.	0.41|.	.|.	3.631|3.631	0.08131|0.08131	0.1813:0.3037:0.0:0.515|0.1813:0.3037:0.0:0.515	.|.	807;807|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	D|I	807|741	ENSP00000273814:E807D|.	ENSP00000273814:E807D|.	E|S	-|-	3|2	2|0	DGKQ|DGKQ	945517|945517	0.002000|0.002000	0.14202|0.14202	0.918000|0.918000	0.36340|0.36340	0.138000|0.138000	0.21146|0.21146	0.167000|0.167000	0.16602|0.16602	-0.020000|-0.020000	0.14032|0.14032	-0.322000|-0.322000	0.08575|0.08575	GAG|AGC		0.652	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			5	35	1	0	0.217242	1	0.218821	5	35				
ITGA6	3655	broad.mit.edu	37	2	173339741	173339741	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173339741G>T	ENST00000264106.6	+	8	1391	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	ITGA6_ENST00000409080.1_Missense_Mutation_p.Q357H|ITGA6_ENST00000375221.2_Missense_Mutation_p.Q396H|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q352H|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q357H|ITGA6_ENST00000409532.1_Missense_Mutation_p.Q238H			P23229	ITA6_HUMAN	integrin, alpha 6	396					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACATGAACCAGCAAGGCAGAT	0.373																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(1186-1188)caG>caT		integrin, alpha 6							118.0	112.0	114.0					2																	173339741		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173339741G>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1188G>T	2.37:g.173339741G>T	ENSP00000264106:p.Gln396His					ITGA6_ENST00000264106.6_Missense_Mutation_p.Q396H|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q357H|ITGA6_ENST00000409532.1_Missense_Mutation_p.Q238H|ITGA6_ENST00000409080.1_Missense_Mutation_p.Q357H|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q352H	p.Q396H			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		8	1391	+			396					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1188G>T		.	.	.	.	.	.	.	.	.	.	G	19.73	3.882384	0.72294	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.35	4.46	0.54185	.	0.224696	0.46758	D	0.000277	T	0.76572	0.4006	L	0.61036	1.89	0.46542	D	0.999091	B;P;P;P	0.52170	0.217;0.946;0.897;0.951	B;P;P;P	0.60949	0.138;0.881;0.785;0.847	T	0.75631	-0.3251	9	.	.	.	.	7.8903	0.29674	0.1426:0.1323:0.7252:0.0	.	352;396;357;357	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	H	238;357;396;396;352;357;396;352	ENSP00000386614:Q238H;ENSP00000264107:Q357H;ENSP00000264106:Q396H;ENSP00000364369:Q396H;ENSP00000341078:Q352H;ENSP00000386896:Q357H;ENSP00000406694:Q396H;ENSP00000394169:Q352H	.	Q	+	3	2	ITGA6	173047987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.809000	0.27168	2.500000	0.84329	0.650000	0.86243	CAG		0.373	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				27	47	1	0	9.04412e-07	1	1.0505e-06	27	47				
SMAD7	4092	broad.mit.edu	37	18	46448197	46448197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46448197G>A	ENST00000262158.2	-	4	1112	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.L275F|SMAD7_ENST00000591805.1_Missense_Mutation_p.L61F	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	276	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ACACAGTAGAGCCTCCCCACT	0.532																																						ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(826-828)Ctc>Ttc		SMAD family member 7							52.0	55.0	54.0					18																	46448197		2203	4300	6503	SO:0001583	missense	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46448197G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.826C>T	18.37:g.46448197G>A	ENSP00000262158:p.Leu276Phe					SMAD7_ENST00000591805.1_Missense_Mutation_p.L61F|SMAD7_ENST00000589634.1_Missense_Mutation_p.L275F|SMAD7_ENST00000585986.1_5'UTR	p.L276F	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1112	-	Colorectal(1;0.0518)		276			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.826C>T	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036754	0.75617	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.97378	-4.36	5.62	5.62	0.85841	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.122577	0.56097	D	0.000026	D	0.97340	0.9130	L	0.35341	1.055	0.80722	D	1	P;D	0.76494	0.927;0.999	P;D	0.91635	0.759;0.999	D	0.98370	1.0553	10	0.72032	D	0.01	.	17.8376	0.88704	0.0:0.0:1.0:0.0	.	276;88	O15105;B3KYA8	SMAD7_HUMAN;.	F	61;276	ENSP00000262158:L276F	ENSP00000262158:L276F	L	-	1	0	SMAD7	44702195	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.061000	0.89467	2.643000	0.89663	0.591000	0.81541	CTC		0.532	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		16	24	0	0	0	1	0	16	24				
NPAP1	23742	broad.mit.edu	37	15	24922548	24922548	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:24922548A>G	ENST00000329468.2	+	1	2008	c.1534A>G	c.(1534-1536)Aca>Gca	p.T512A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	512	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCCTCCCGTCACAAGGGAGTC	0.542																																						ENST00000329468.2																			0											c.(1534-1536)Aca>Gca		nuclear pore associated protein 1							183.0	194.0	190.0					15																	24922548		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922548A>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1534A>G	15.37:g.24922548A>G	ENSP00000333735:p.Thr512Ala						p.T512A	NM_018958.2	NP_061831.2					1	2008	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1534A>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	1.732	-0.493930	0.04322	.	.	ENSG00000185823	ENST00000329468	T	0.05382	3.45	1.9	-2.89	0.05665	.	8.257690	0.00166	N	0.000006	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	10	0.08381	T	0.77	.	3.3814	0.07256	0.388:0.4412:0.1708:0.0	.	512	Q9NZP6	CO002_HUMAN	A	512	ENSP00000333735:T512A	ENSP00000333735:T512A	T	+	1	0	C15orf2	22473641	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.100000	0.03339	-0.625000	0.05604	0.172000	0.16884	ACA		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		14	216	0	0	0	1	0	14	216				
TENM2	57451	broad.mit.edu	37	5	167626996	167626996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167626996T>C	ENST00000518659.1	+	17	3329	c.3290T>C	c.(3289-3291)aTt>aCt	p.I1097T	TENM2_ENST00000520394.1_Missense_Mutation_p.I865T|TENM2_ENST00000545108.1_Missense_Mutation_p.I1097T|TENM2_ENST00000519204.1_Missense_Mutation_p.I976T|TENM2_ENST00000403607.2_Missense_Mutation_p.I921T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1097					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGAACCTCATTAGGGTTCAC	0.522																																						ENST00000519204.1																			0											c.(2926-2928)aTt>aCt		teneurin transmembrane protein 2							102.0	102.0	102.0					5																	167626996		1936	4152	6088	SO:0001583	missense	57451							g.chr5:167626996T>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3290T>C	5.37:g.167626996T>C	ENSP00000429430:p.Ile1097Thr					TENM2_ENST00000520394.1_Missense_Mutation_p.I865T|TENM2_ENST00000403607.2_Missense_Mutation_p.I921T|TENM2_ENST00000518659.1_Missense_Mutation_p.I1097T|TENM2_ENST00000545108.1_Missense_Mutation_p.I1097T	p.I976T							16	3045	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2927T>C		.	.	.	.	.	.	.	.	.	.	T	9.051	0.992104	0.18966	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88124	-1.87;-1.85;-1.97;-2.34;-2.33	5.05	5.05	0.67936	.	0.257041	0.41294	D	0.000902	T	0.72120	0.3421	N	0.03608	-0.345	0.38874	D	0.956768	B;B;B	0.26547	0.101;0.061;0.152	B;B;B	0.28011	0.085;0.039;0.036	T	0.70270	-0.4918	10	0.12103	T	0.63	.	14.8257	0.70110	0.0:0.0:0.0:1.0	.	1097;1097;865	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	T	1097;1097;976;865;921	ENSP00000429430:I1097T;ENSP00000438635:I1097T;ENSP00000428964:I976T;ENSP00000427874:I865T;ENSP00000384905:I921T	ENSP00000384905:I921T	I	+	2	0	ODZ2	167559574	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	8.040000	0.89188	1.896000	0.54893	0.459000	0.35465	ATT		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		7	79	0	0	0	1	0	7	79				
FLG	2312	broad.mit.edu	37	1	152284256	152284256	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152284256G>A	ENST00000368799.1	-	3	3141	c.3106C>T	c.(3106-3108)Cgc>Tgc	p.R1036C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1036	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3106-3108)Cgc>Tgc		filaggrin							360.0	359.0	359.0					1																	152284256		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284256G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3106C>T	1.37:g.152284256G>A	ENSP00000357789:p.Arg1036Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1036C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3141	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1036			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3106C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.138	0.784657	0.16189	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.04275	3.66	3.61	1.36	0.22044	.	.	.	.	.	T	0.04272	0.0118	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.37776	-0.9691	9	0.56958	D	0.05	.	4.9945	0.14231	0.0:0.2307:0.5181:0.2512	.	1036	P20930	FILA_HUMAN	C	1036;243	ENSP00000357789:R1036C	ENSP00000357789:R1036C	R	-	1	0	FLG	150550880	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	-5.373000	0.00127	0.700000	0.31782	0.299000	0.19835	CGC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		252	275	0	0	0	1	0	252	275				
LRRN1	57633	broad.mit.edu	37	3	3888474	3888474	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888474T>C	ENST00000319331.3	+	2	2910	c.2149T>C	c.(2149-2151)Taa>Caa	p.*717Q	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	0						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTACATGTGGTAACTCAGAGG	0.413																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(2149-2151)Taa>Caa		leucine rich repeat neuronal 1							48.0	51.0	50.0					3																	3888474		2203	4300	6503	SO:0001578	stop_lost	57633					integral to membrane		g.chr3:3888474T>C	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2149T>C	3.37:g.3888474T>C	ENSP00000314901:p.*717Glnext*52					SUMF1_ENST00000534863.1_Intron	p.*717Q	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2910	+			0					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Nonstop_Mutation	SNP	ENST00000319331.3	37	c.2149T>C	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665796	0.47677	.	.	ENSG00000175928	ENST00000319331	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	.	.	.	Q	717	.	.	X	+	1	0	LRRN1	3863474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.951000	0.87819	2.251000	0.74343	0.528000	0.53228	TAA		0.413	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		10	12	0	0	0	1	0	10	12				
ZUFSP	221302	broad.mit.edu	37	6	116988279	116988279	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116988279T>A	ENST00000368576.3	-	2	320	c.77A>T	c.(76-78)gAa>gTa	p.E26V	ZUFSP_ENST00000368573.1_Missense_Mutation_p.E26V|ZUFSP_ENST00000471919.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	26							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AATTTCACTTTCCATGTGAAC	0.353																																						ENST00000368576.3																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(76-78)gAa>gTa		zinc finger with UFM1-specific peptidase domain							94.0	93.0	93.0					6																	116988279		2202	4300	6502	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116988279T>A	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.77A>T	6.37:g.116988279T>A	ENSP00000357565:p.Glu26Val					ZUFSP_ENST00000368573.1_Missense_Mutation_p.E26V|ZUFSP_ENST00000471919.1_Intron	p.E26V	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	2	320	-			26					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.77A>T	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.218388	0.79464	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T	0.55052	0.54	5.94	5.94	0.96194	.	0.044324	0.85682	D	0.000000	T	0.63367	0.2505	M	0.66939	2.045	0.58432	D	0.999994	D	0.89917	1.0	D	0.71414	0.973	T	0.67971	-0.5532	10	0.66056	D	0.02	-22.4828	14.3468	0.66672	0.0:0.0:0.0:1.0	.	26	Q96AP4	ZUFSP_HUMAN	V	26	ENSP00000357565:E26V	ENSP00000357562:E26V	E	-	2	0	ZUFSP	117094972	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.294000	0.59043	2.272000	0.75746	0.459000	0.35465	GAA		0.353	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		7	76	0	0	0	1	0	7	76				
CDH23	64072	broad.mit.edu	37	10	73571132	73571132	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571132C>T	ENST00000224721.6	+	62	9158	c.9153C>T	c.(9151-9153)aaC>aaT	p.N3051N	CDH23_ENST00000398788.3_Silent_p.N806N|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3046					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAACTACAACGTCCTGGACG	0.632																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9151-9153)aaC>aaT		cadherin-related 23							58.0	69.0	66.0					10																	73571132		2071	4193	6264	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73571132C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9153C>T	10.37:g.73571132C>T						CDH23_ENST00000398788.3_Silent_p.N806N|CDH23_ENST00000475158.1_3'UTR	p.N3051N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			62	9158	+			3046					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.9153C>T																																																																																					0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		6	49	0	0	0	1	0	6	49				
WDR11	55717	broad.mit.edu	37	10	122619736	122619736	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122619736C>A	ENST00000263461.6	+	4	714	c.468C>A	c.(466-468)agC>agA	p.S156R		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	464					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAAGAGCTATGCAGATA	0.413																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(466-468)agC>agA		WD repeat domain 11							111.0	96.0	101.0					10																	122619736		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619736C>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.468C>A	10.37:g.122619736C>A	ENSP00000263461:p.Ser156Arg						p.S156R	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			4	714	+			156					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.468C>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972832	0.74246	.	.	ENSG00000120008	ENST00000263461	T	0.29142	1.58	5.72	3.85	0.44370	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	L	0.47716	1.5	0.58432	D	0.999996	D	0.65815	0.995	D	0.72982	0.979	T	0.16129	-1.0413	10	0.48119	T	0.1	-20.2282	5.7762	0.18281	0.0:0.6892:0.0:0.3108	.	156	Q9BZH6	WDR11_HUMAN	R	156	ENSP00000263461:S156R	ENSP00000263461:S156R	S	+	3	2	WDR11	122609726	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.134000	0.50538	2.699000	0.92147	0.591000	0.81541	AGC		0.413	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			21	43	1	0	2.4624e-09	1	2.98951e-09	21	43				
SCML2	10389	broad.mit.edu	37	X	18264933	18264933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18264933G>A	ENST00000251900.4	-	13	1745	c.1586C>T	c.(1585-1587)gCt>gTt	p.A529V	SCML2_ENST00000398048.3_Missense_Mutation_p.A265V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	529					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTTCCCCCAGCAAACAATGG	0.378																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1585-1587)gCt>gTt		sex comb on midleg-like 2 (Drosophila)							81.0	88.0	85.0					X																	18264933		2202	4300	6502	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18264933G>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1586C>T	X.37:g.18264933G>A	ENSP00000251900:p.Ala529Val					SCML2_ENST00000398048.3_Missense_Mutation_p.A265V	p.A529V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			13	1745	-	Hepatocellular(33;0.183)		529					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1586C>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058887	0.01950	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.41758	2.3;0.99	5.39	2.61	0.31194	.	1.404690	0.04466	N	0.375231	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.22068	-1.0227	10	0.15066	T	0.55	.	4.803	0.13307	0.3502:0.1559:0.4939:0.0	.	497;44;265;529	B4DZR9;Q5JXE7;B4DRC2;Q9UQR0	.;.;.;SCML2_HUMAN	V	529;265;497	ENSP00000251900:A529V;ENSP00000381126:A265V	ENSP00000251900:A529V	A	-	2	0	SCML2	18174854	0.067000	0.21026	0.001000	0.08648	0.003000	0.03518	0.353000	0.20130	0.576000	0.29452	0.597000	0.82753	GCT		0.378	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		14	149	0	0	0	1	0	14	149				
ZNF385B	151126	broad.mit.edu	37	2	180383346	180383346	+	Missense_Mutation	SNP	G	G	A	rs139953454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180383346G>A	ENST00000410066.1	-	5	1019	c.416C>T	c.(415-417)gCg>gTg	p.A139V	ZNF385B_ENST00000409343.1_Missense_Mutation_p.A63V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A37V|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A37V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	139	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTAATAACCGCTTTTTGCAC	0.343																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(415-417)gCg>gTg		zinc finger protein 385B		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	102.0	106.0	104.0		188,110,416	5.7	1.0	2	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ZNF385B	NM_001113397.1,NM_001113398.1,NM_152520.4	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	63/396,37/370,139/472	180383346	1,13005	2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180383346G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.416C>T	2.37:g.180383346G>A	ENSP00000386845:p.Ala139Val					ZNF385B_ENST00000336917.5_Missense_Mutation_p.A37V|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A37V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.A63V	p.A139V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		5	1019	-			139					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.416C>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193426	0.94960	0.0	1.16E-4	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.61510	0.96;0.96;0.96;0.96;0.96;0.1	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.78362	-0.2233	10	0.87932	D	0	-0.1991	19.8991	0.96978	0.0:0.0:1.0:0.0	.	139;63	Q569K4;Q569K4-2	Z385B_HUMAN;.	V	139;37;63;37;37;70	ENSP00000386845:A139V;ENSP00000338225:A37V;ENSP00000386379:A63V;ENSP00000386507:A37V;ENSP00000394038:A37V;ENSP00000399198:A70V	ENSP00000338225:A37V	A	-	2	0	ZNF385B	180091591	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.776000	0.99001	2.697000	0.92050	0.585000	0.79938	GCG		0.343	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		51	61	0	0	0	1	0	51	61				
ZNF549	256051	broad.mit.edu	37	19	58049264	58049264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049264C>T	ENST00000376233.3	+	4	1073	c.892C>T	c.(892-894)Cac>Tac	p.H298Y	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H285Y|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGAGAATTCACACTAGAGA	0.433																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(892-894)Cac>Tac		zinc finger protein 549							95.0	95.0	95.0					19																	58049264		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049264C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.892C>T	19.37:g.58049264C>T	ENSP00000365407:p.His298Tyr					ZNF549_ENST00000240719.3_Missense_Mutation_p.H285Y|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron	p.H298Y	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1073	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	298					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.892C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213736	0.58452	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.28895	1.59;1.59	2.37	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	.	.	.	.	T	0.59702	0.2213	M	0.90369	3.11	0.30274	N	0.791966	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	T	0.60732	-0.7205	9	0.87932	D	0	.	10.4399	0.44460	0.0:1.0:0.0:0.0	.	298;285	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	Y	285;298	ENSP00000240719:H285Y;ENSP00000365407:H298Y	ENSP00000240719:H285Y	H	+	1	0	ZNF549	62741076	0.561000	0.26578	0.406000	0.26421	0.701000	0.40568	3.125000	0.50469	1.340000	0.45581	0.650000	0.86243	CAC		0.433	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		48	74	0	0	0	1	0	48	74				
SLC6A20	54716	broad.mit.edu	37	3	45817434	45817434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45817434C>T	ENST00000358525.4	-	4	516	c.401G>A	c.(400-402)gGc>gAc	p.G134D	SLC6A20_ENST00000353278.4_Missense_Mutation_p.G134D|SLC6A20_ENST00000456124.2_Missense_Mutation_p.G134D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	134					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTCATCGTAGCCCGTGTGGTT	0.567																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(400-402)gGc>gAc		solute carrier family 6 (proline IMINO transporter), member 20							156.0	141.0	146.0					3																	45817434		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45817434C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.401G>A	3.37:g.45817434C>T	ENSP00000346298:p.Gly134Asp					SLC6A20_ENST00000353278.4_Missense_Mutation_p.G134D|SLC6A20_ENST00000456124.2_Missense_Mutation_p.G134D	p.G134D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	4	516	-			134					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.401G>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324683	0.24080	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.47	5.47	0.80525	.	0.091893	0.47093	D	0.000244	T	0.68302	0.2986	L	0.48986	1.54	0.44117	D	0.996891	B;B	0.29590	0.21;0.25	B;B	0.35278	0.125;0.199	T	0.63659	-0.6587	10	0.25751	T	0.34	.	9.3226	0.37973	0.0:0.7782:0.1459:0.0759	.	134;134	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	D	134;134;134;87	ENSP00000296133:G134D;ENSP00000346298:G134D;ENSP00000404310:G134D;ENSP00000395506:G87D	ENSP00000296133:G134D	G	-	2	0	SLC6A20	45792438	1.000000	0.71417	0.935000	0.37517	0.034000	0.12701	3.128000	0.50492	2.546000	0.85860	0.563000	0.77884	GGC		0.567	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		15	85	0	0	0	1	0	15	85				
MIR519A2	574500	broad.mit.edu	37	19	54264467	54264467	+	lincRNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54264467C>T	ENST00000384990.1	+	0	0				MIR1283-2_ENST00000408621.1_RNA|MIR516A2_ENST00000384888.1_RNA|RNU6-1041P_ENST00000516254.1_RNA	NR_030222.1				microRNA 519a-2																		CAGAGGGTTACGGTTTGAGAA	0.443																																						ENST00000384888.1																			0																				86.0	81.0	82.0					19																	54264467		1568	3582	5150			0							g.chr19:54264467C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54264467C>T								NR_030221.1						0	81	+									RNA	SNP	ENST00000384990.1	37																																																																																						0.443	MIR519A2-201	KNOWN	basic	miRNA	lincRNA		NR_030222		28	47	0	0	0	1	0	28	47				
TIE1	7075	broad.mit.edu	37	1	43777687	43777687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43777687G>A	ENST00000372476.3	+	11	1594	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	TIE1_ENST00000433781.2_Silent_p.T150T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	505	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAACGTGACGTTAATGAACC	0.602																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1513-1515)acG>acA		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							110.0	103.0	106.0					1																	43777687		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777687G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1515G>A	1.37:g.43777687G>A						TIE1_ENST00000433781.2_Silent_p.T150T	p.T505T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			11	1594	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	505			Fibronectin type-III 1.		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1515G>A	CCDS482.1																																																																																				0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		20	42	0	0	0	1	0	20	42				
DCAF4L2	138009	broad.mit.edu	37	8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885128C>T	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1072-1074)Gcc>Acc		DDB1 and CUL4 associated factor 4-like 2							74.0	82.0	79.0					8																	88885128		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885128C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1072G>A	8.37:g.88885128C>T	ENSP00000316496:p.Ala358Thr						p.A358T	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1168	-			358						Missense_Mutation	SNP	ENST00000319675.3	37	c.1072G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	7.180	0.589400	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.23348	1.91	1.37	0.319	0.15873	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.460361	0.24490	N	0.038063	T	0.12050	0.0293	N	0.16656	0.425	0.09310	N	1	B	0.24618	0.107	B	0.18263	0.021	T	0.22626	-1.0211	10	0.27082	T	0.32	.	6.831	0.23911	0.0:0.7048:0.2951:0.0	.	358	Q8NA75	DC4L2_HUMAN	T	358	ENSP00000316496:A358T	ENSP00000316496:A358T	A	-	1	0	DCAF4L2	88954244	0.455000	0.25736	0.001000	0.08648	0.044000	0.14063	0.395000	0.20850	-0.123000	0.11745	0.467000	0.42956	GCC		0.622	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		23	32	0	0	0	1	0	23	32				
MAB21L1	4081	broad.mit.edu	37	13	36050146	36050146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36050146C>T	ENST00000379919.4	-	1	686	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	44					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCCACTTCCTTCAGTACG	0.502																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(130-132)Gaa>Aaa		mab-21-like 1 (C. elegans)							105.0	105.0	105.0					13																	36050146		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050146C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.130G>A	13.37:g.36050146C>T	ENSP00000369251:p.Glu44Lys					NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	p.E44K	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	686	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	44					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.130G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666716	0.88251	.	.	ENSG00000180660	ENST00000379919	T	0.18338	2.22	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.22208	-1.0223	10	0.16420	T	0.52	.	19.7375	0.96212	0.0:1.0:0.0:0.0	.	44	Q13394	MB211_HUMAN	K	44	ENSP00000369251:E44K	ENSP00000369251:E44K	E	-	1	0	MAB21L1	34948146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GAA		0.502	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		24	53	0	0	0	1	0	24	53				
MYBPC2	4606	broad.mit.edu	37	19	50939873	50939873	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50939873G>T	ENST00000357701.5	+	5	396		c.e5-1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGGACCCAGGTGTACACCG	0.612																																						ENST00000357701.5																			0				breast(1)	1						c.e5-1		myosin binding protein C, fast type							67.0	67.0	67.0					19																	50939873		1989	4152	6141	SO:0001630	splice_region_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939873G>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.346-1G>T	19.37:g.50939873G>T								NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	5	396	+		all_neural(266;0.057)						A1L4G9	Splice_Site	SNP	ENST00000357701.5	37		CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327676	0.60743	.	.	ENSG00000086967	ENST00000357701	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9428	0.71006	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYBPC2	55631685	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	8.192000	0.89718	2.142000	0.66516	0.450000	0.29827	.		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	Intron	17	31	1	0	4.7546e-09	1	5.74312e-09	17	31				
GPR45	11250	broad.mit.edu	37	2	105858813	105858813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105858813G>A	ENST00000258456.1	+	1	614	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGGGGCCCTCGCTCACGGGCT	0.692																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(496-498)tcG>tcA		G protein-coupled receptor 45							24.0	24.0	24.0					2																	105858813		2202	4300	6502	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858813G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.498G>A	2.37:g.105858813G>A							p.S166S	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	614	+			166					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.498G>A	CCDS2066.1																																																																																				0.692	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		9	15	0	0	0	1	0	9	15				
PAQR4	124222	broad.mit.edu	37	16	3021868	3021868	+	Silent	SNP	C	C	T	rs142808297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3021868C>T	ENST00000318782.8	+	3	1171	c.741C>T	c.(739-741)agC>agT	p.S247S	PAQR4_ENST00000574988.1_Silent_p.S180S|PAQR4_ENST00000576565.1_Silent_p.S180S|PAQR4_ENST00000572687.1_Silent_p.S173S|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.S208S|PKMYT1_ENST00000571102.1_5'Flank	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	247						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACCTGCTGAGCGTGGGCTCCA	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		15983	0.0		0.001	False		,,,				2504	0.0					ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(739-741)agC>agT		progestin and adipoQ receptor family member IV		C		0,4394		0,0,2197	37.0	40.0	39.0		741	-0.3	1.0	16	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PAQR4	NM_152341.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		247/274	3021868	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021868C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.741C>T	16.37:g.3021868C>T						PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.S180S|PAQR4_ENST00000574988.1_Silent_p.S180S|PAQR4_ENST00000293978.8_Silent_p.S208S|PAQR4_ENST00000572687.1_Silent_p.S173S	p.S247S	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1171	+			247					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.741C>T	CCDS10485.1																																																																																				0.677	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		4	45	0	0	0	1	0	4	45				
NAA35	60560	broad.mit.edu	37	9	88628649	88628649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88628649G>A	ENST00000361671.5	+	17	1538	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	469					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GAAGGTTGATGCAGCGCTTCA	0.383																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1405-1407)Gca>Aca		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							139.0	136.0	137.0					9																	88628649		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88628649G>A	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1405G>A	9.37:g.88628649G>A	ENSP00000354972:p.Ala469Thr						p.A469T	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			17	1538	+			469					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.1405G>A	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186322	0.57909	.	.	ENSG00000135040	ENST00000361671	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	L	0.28504	0.86	0.80722	D	1	P	0.40834	0.73	B	0.28709	0.093	T	0.26155	-1.0111	9	0.12103	T	0.63	-9.7365	18.0745	0.89423	0.0:0.0:1.0:0.0	.	469	Q5VZE5	NAA35_HUMAN	T	469	.	ENSP00000354972:A469T	A	+	1	0	NAA35	87818469	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	9.869000	0.99810	2.270000	0.75569	0.650000	0.86243	GCA		0.383	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		37	63	0	0	0	1	0	37	63				
SETD3	84193	broad.mit.edu	37	14	99927652	99927652	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99927652T>G	ENST00000331768.5	-	4	381	c.222A>C	c.(220-222)aaA>aaC	p.K74N	SETD3_ENST00000436070.2_Missense_Mutation_p.K74N|SETD3_ENST00000329331.3_Missense_Mutation_p.K74N|SETD3_ENST00000453938.1_Intron	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	74					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AATCTTCTCTTTTTCCATCAA	0.373																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(220-222)aaA>aaC		SET domain containing 3							93.0	94.0	93.0					14																	99927652		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99927652T>G	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.222A>C	14.37:g.99927652T>G	ENSP00000327436:p.Lys74Asn					SETD3_ENST00000436070.2_Missense_Mutation_p.K74N|SETD3_ENST00000329331.3_Missense_Mutation_p.K74N|SETD3_ENST00000453938.1_Intron	p.K74N	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			4	381	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	74					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.222A>C	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500468	0.44455	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.24350	2.63;1.86;1.88	5.45	3.05	0.35203	.	0.215683	0.44902	D	0.000413	T	0.15305	0.0369	L	0.47716	1.5	0.46774	D	0.999193	B;B;P	0.41313	0.325;0.125;0.745	B;B;B	0.28465	0.05;0.02;0.09	T	0.09618	-1.0666	10	0.19590	T	0.45	-23.2868	8.0708	0.30689	0.0:0.0701:0.1366:0.7933	.	74;74;74	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	N	74	ENSP00000327436:K74N;ENSP00000327910:K74N;ENSP00000408602:K74N	ENSP00000327910:K74N	K	-	3	2	SETD3	98997405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.786000	0.47790	0.438000	0.26450	0.533000	0.62120	AAA		0.373	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		44	67	0	0	0	1	0	44	67				
IQGAP1	8826	broad.mit.edu	37	15	91025201	91025201	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025201C>A	ENST00000268182.5	+	27	3463	c.3339C>A	c.(3337-3339)ccC>ccA	p.P1113P	IQGAP1_ENST00000560738.1_Silent_p.P541P	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1113	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACTGCCCTATGATGTGA	0.468																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3337-3339)ccC>ccA		IQ motif containing GTPase activating protein 1							52.0	52.0	52.0					15																	91025201		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91025201C>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3339C>A	15.37:g.91025201C>A						IQGAP1_ENST00000560738.1_Silent_p.P541P	p.P1113P	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		27	3463	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1113			C1.|Ras-GAP.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3339C>A	CCDS10362.1																																																																																				0.468	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		5	30	1	0	0.0215528	1	0.0221649	5	30				
IRX5	10265	broad.mit.edu	37	16	54967551	54967551	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:54967551G>A	ENST00000394636.4	+	3	1555	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	IRX5_ENST00000320990.5_Silent_p.A405A|IRX5_ENST00000560154.1_Silent_p.A186A|IRX5_ENST00000558597.1_Silent_p.A340A|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	406					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACTACACCGCGCCCTTCTATC	0.701																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1216-1218)gcG>gcA		iroquois homeobox 5							21.0	26.0	24.0					16																	54967551		2194	4284	6478	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967551G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1218G>A	16.37:g.54967551G>A						IRX5_ENST00000560154.1_Silent_p.A186A|IRX5_ENST00000558597.1_Silent_p.A340A|IRX5_ENST00000320990.5_Silent_p.A405A	p.A406A			P78411	IRX5_HUMAN			3	1555	+			406					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.1218G>A	CCDS10751.1																																																																																				0.701	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			7	28	0	0	0	1	0	7	28				
MAPKAPK3	7867	broad.mit.edu	37	3	50683654	50683654	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50683654A>G	ENST00000446044.1	+	10	1384	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.Y263C	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGGGCCAGTACGGCTTCCCC	0.607																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(787-789)tAc>tGc		mitogen-activated protein kinase-activated protein kinase 3							114.0	112.0	113.0					3																	50683654		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50683654A>G	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.788A>G	3.37:g.50683654A>G	ENSP00000396467:p.Tyr263Cys					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.Y263C	p.Y263C	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	10	1384	+			263			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.788A>G	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561570	0.86335	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.80535	-0.1339	10	0.87932	D	0	-15.6338	15.099	0.72258	1.0:0.0:0.0:0.0	.	263	Q16644	MAPK3_HUMAN	C	263	ENSP00000396467:Y263C;ENSP00000410970:Y263C;ENSP00000350639:Y263C	ENSP00000350639:Y263C	Y	+	2	0	MAPKAPK3	50658658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.232000	0.73038	0.533000	0.62120	TAC		0.607	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		11	119	0	0	0	1	0	11	119				
RPGRIP1	57096	broad.mit.edu	37	14	21790062	21790062	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21790062A>G	ENST00000400017.2	+	13	1661	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.H527R|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.H554R|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.H196R|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.H527R	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	554				HK -> SQR (in Ref. 1; AAG10246). {ECO:0000305}.	eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AATAGAGATCACAAAGAAAAG	0.398																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1660-1662)cAc>cGc		retinitis pigmentosa GTPase regulator interacting protein 1							86.0	83.0	84.0					14																	21790062		1890	4107	5997	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21790062A>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1661A>G	14.37:g.21790062A>G	ENSP00000382895:p.His554Arg					RPGRIP1_ENST00000382933.4_Missense_Mutation_p.H196R|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.H527R|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.H554R|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.H527R	p.H554R			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	13	1661	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	554	HK -> SQR (in Ref. 1; AAG10246).				Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1661A>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392953	0.25118	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;T	0.79033	-0.01;-0.81;-0.83;-0.83;-0.36;-1.11;-1.23	4.58	2.23	0.28157	.	0.299918	0.36972	N	0.002302	T	0.70902	0.3277	M	0.69823	2.125	0.09310	N	0.999999	B;B;B;B	0.24576	0.04;0.033;0.04;0.106	B;B;B;B	0.22386	0.029;0.023;0.029;0.039	T	0.56565	-0.7958	10	0.24483	T	0.36	-9.5681	7.4925	0.27471	0.7466:0.0:0.2534:0.0	.	29;196;170;554	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	R	527;527;554;554;196;29;27	ENSP00000450445:H527R;ENSP00000451219:H527R;ENSP00000382895:H554R;ENSP00000206660:H554R;ENSP00000372391:H196R;ENSP00000451262:H29R;ENSP00000450426:H27R	ENSP00000206660:H554R	H	+	2	0	RPGRIP1	20859902	0.072000	0.21174	0.002000	0.10522	0.361000	0.29550	1.186000	0.32078	0.377000	0.24735	0.254000	0.18369	CAC		0.398	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		4	20	0	0	0	1	0	4	20				
DLX5	1749	broad.mit.edu	37	7	96651589	96651589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96651589C>A	ENST00000222598.4	-	2	921	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A150S	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	150					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGTAATGCGGCCAGCTGAAAG	0.498																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(448-450)Gcc>Tcc		distal-less homeobox 5							117.0	116.0	116.0					7																	96651589		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96651589C>A		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.448G>T	7.37:g.96651589C>A	ENSP00000222598:p.Ala150Ser					DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A150S	p.A150S	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			2	921	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		150					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.448G>T	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665580	0.96745	.	.	ENSG00000105880	ENST00000222598	D	0.96104	-3.91	5.41	5.41	0.78517	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	N	0.05574	-0.02	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.991	D	0.93393	0.6753	10	0.24483	T	0.36	-9.3409	18.9868	0.92773	0.0:1.0:0.0:0.0	.	150;150	B7Z4P3;P56178	.;DLX5_HUMAN	S	150	ENSP00000222598:A150S	ENSP00000222598:A150S	A	-	1	0	DLX5	96489525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.582000	0.82546	2.816000	0.96949	0.563000	0.77884	GCC		0.498	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			6	152	1	0	0.217242	1	0.218821	6	152				
SP3	6670	broad.mit.edu	37	2	174819870	174819870	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174819870G>T	ENST00000310015.6	-	4	1900	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	SP3_ENST00000455789.2_Missense_Mutation_p.P404H|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Missense_Mutation_p.P389H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	457	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTCCAGAAGGGGTCACTGT	0.433																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1369-1371)cCt>cAt		Sp3 transcription factor							76.0	73.0	74.0					2																	174819870		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174819870G>T	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1370C>A	2.37:g.174819870G>T	ENSP00000310301:p.Pro457His					SP3_ENST00000455789.2_Missense_Mutation_p.P404H|SP3_ENST00000418194.2_Missense_Mutation_p.P389H	p.P457H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1900	-			457			Transactivation domain (Gln-rich).		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1370C>A	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.834462|3.834462	0.71373|0.71373	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.08370	.|3.1;3.1;3.11	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30854|0.30854	0.0778|0.0778	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.953;0.99;0.999	T|T	0.00400|0.00400	-1.1763|-1.1763	5|10	.|0.87932	.|D	.|0	.|.	20.0915|20.0915	0.97822|0.97822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|454;457;404	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	I|H	414|457;404;389	.|ENSP00000310301:P457H;ENSP00000388903:P404H;ENSP00000406140:P389H	.|ENSP00000310301:P457H	L|P	-|-	1|2	0|0	SP3|SP3	174528116|174528116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.194000|9.194000	0.94962|0.94962	2.736000|2.736000	0.93811|0.93811	0.650000|0.650000	0.86243|0.86243	CTT|CCT		0.433	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		7	41	1	0	8.12818e-05	1	8.99451e-05	7	41				
WHSC1L1	54904	broad.mit.edu	37	8	38187117	38187117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38187117G>A	ENST00000317025.8	-	6	1877	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R454W|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R454W|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R454W	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	454					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTGTGTGCCGCCTCTGGCTA	0.517			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1360-1362)Cgg>Tgg		Wolf-Hirschhorn syndrome candidate 1-like 1							97.0	92.0	94.0					8																	38187117		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187117G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1360C>T	8.37:g.38187117G>A	ENSP00000313983:p.Arg454Trp					WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R454W|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R454W|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R454W	p.R454W	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1877	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	454					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1360C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154789	0.78114	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.95690	-3.74;-3.78;-3.78;-0.24	5.41	5.41	0.78517	.	0.000000	0.43919	U	0.000512	D	0.96331	0.8803	L	0.43152	1.355	0.47511	D	0.999444	D;D;D;D	0.89917	0.998;0.998;1.0;0.998	P;P;D;P	0.75020	0.784;0.857;0.985;0.784	D	0.96657	0.9486	10	0.72032	D	0.01	.	14.9707	0.71232	0.0:0.0:0.8484:0.1516	.	454;454;454;454	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	W	454;454;391;454;454	ENSP00000393284:R454W;ENSP00000313983:R454W;ENSP00000434730:R454W;ENSP00000313410:R454W	ENSP00000313410:R454W	R	-	1	2	WHSC1L1	38306274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.240000	0.32731	2.532000	0.85374	0.650000	0.86243	CGG		0.517	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		34	45	0	0	0	1	0	34	45				
SURF2	6835	broad.mit.edu	37	9	136227955	136227955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136227955G>T	ENST00000371964.4	+	6	752	c.711G>T	c.(709-711)aaG>aaT	p.K237N	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	237						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CGTTGAAAAAGAAGTTCAAGA	0.478																																						ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(709-711)aaG>aaT		surfeit 2							176.0	180.0	179.0					9																	136227955		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136227955G>T		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.711G>T	9.37:g.136227955G>T	ENSP00000361032:p.Lys237Asn						p.K237N	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	6	752	+			237					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.711G>T	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850510	0.51270	.	.	ENSG00000148291	ENST00000371964	T	0.39406	1.08	4.73	2.88	0.33553	.	0.112785	0.64402	D	0.000020	T	0.61837	0.2379	M	0.81497	2.545	0.47276	D	0.99937	D	0.89917	1.0	D	0.91635	0.999	T	0.61903	-0.6967	10	0.66056	D	0.02	-12.5704	8.627	0.33895	0.2546:0.0:0.7454:0.0	.	237	Q15527	SURF2_HUMAN	N	237	ENSP00000361032:K237N	ENSP00000361032:K237N	K	+	3	2	SURF2	135217776	1.000000	0.71417	0.588000	0.28705	0.791000	0.44710	2.589000	0.46145	0.536000	0.28733	0.491000	0.48974	AAG		0.478	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		73	112	1	0	8.70598e-44	1	1.17535e-43	73	112				
ZNF598	90850	broad.mit.edu	37	16	2049731	2049731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2049731G>A	ENST00000563630.1	-	9	1896	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	ZNF598_ENST00000431526.1_Missense_Mutation_p.P607S|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.P552S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	607							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAGGTAGCGGGCGGGGGCTGT	0.642																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1654-1656)Ccc>Tcc		zinc finger protein 598							15.0	18.0	17.0					16																	2049731		1875	4082	5957	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2049731G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1654C>T	16.37:g.2049731G>A	ENSP00000455882:p.Pro552Ser					ZNF598_ENST00000562103.1_Missense_Mutation_p.P552S|ZNF598_ENST00000431526.1_Missense_Mutation_p.P607S	p.P552S			Q86UK7	ZN598_HUMAN			9	1896	-			607					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.1654C>T		.	.	.	.	.	.	.	.	.	.	.	2.354	-0.348196	0.05208	.	.	ENSG00000167962	ENST00000431526	T	0.16743	2.32	4.29	2.1	0.27182	.	1.032590	0.07623	N	0.927272	T	0.11793	0.0287	N	0.24115	0.695	0.09310	N	1	B	0.21606	0.058	B	0.19391	0.025	T	0.26677	-1.0096	10	0.08599	T	0.76	-4.3711	11.9887	0.53163	0.0:0.3322:0.6677:0.0	.	607	Q86UK7	ZN598_HUMAN	S	607	ENSP00000411409:P607S	ENSP00000411409:P607S	P	-	1	0	ZNF598	1989732	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	1.656000	0.37355	0.975000	0.38392	0.650000	0.86243	CCC		0.642	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		14	23	0	0	0	1	0	14	23				
LRRC4B	94030	broad.mit.edu	37	19	51021413	51021413	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51021413G>A	ENST00000599957.1	-	3	1754	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	LRRC4B_ENST00000389201.3_Silent_p.D519D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCAGACACCGTCTGTCGTGG	0.741																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1555-1557)gaC>gaT		leucine rich repeat containing 4B							8.0	10.0	9.0					19																	51021413		1779	3939	5718	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021413G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1557C>T	19.37:g.51021413G>A						LRRC4B_ENST00000389201.3_Silent_p.D519D	p.D519D			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1754	-		all_neural(266;0.131)	519			Gly-rich.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1557C>T	CCDS42595.1																																																																																				0.741	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		8	6	0	0	0	1	0	8	6				
TECPR2	9895	broad.mit.edu	37	14	102912197	102912197	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102912197C>A	ENST00000359520.7	+	13	3214	c.2988C>A	c.(2986-2988)ctC>ctA	p.L996L	TECPR2_ENST00000558678.1_Silent_p.L996L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	996					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGCAGACTCTCTGGGCCCTGG	0.537																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(2986-2988)ctC>ctA		tectonin beta-propeller repeat containing 2							109.0	104.0	105.0					14																	102912197		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102912197C>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2988C>A	14.37:g.102912197C>A						TECPR2_ENST00000558678.1_Silent_p.L996L	p.L996L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			13	3214	+			996					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.2988C>A	CCDS32162.1																																																																																				0.537	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		5	67	1	0	0.0215528	1	0.0221649	5	67				
ALMS1	7840	broad.mit.edu	37	2	73829483	73829483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73829483C>T	ENST00000264448.6	+	20	12394	c.12283C>T	c.(12283-12285)Ctg>Ttg	p.L4095L	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.L4053L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4095	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATGTGCCCGCTGCCCAAGAG	0.582																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12283-12285)Ctg>Ttg		Alstrom syndrome 1							53.0	53.0	53.0					2																	73829483		2203	4300	6503	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73829483C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12283C>T	2.37:g.73829483C>T						ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.L4053L	p.L4095L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			20	12394	+			4095					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.12283C>T	CCDS42697.1																																																																																				0.582	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	42	0	0	0	1	0	6	42				
AKAP9	10142	broad.mit.edu	37	7	91708647	91708647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91708647G>A	ENST00000359028.2	+	32	7461	c.7236G>A	c.(7234-7236)caG>caA	p.Q2412Q	AKAP9_ENST00000358100.2_Silent_p.Q2412Q|AKAP9_ENST00000356239.3_Silent_p.Q2400Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2412	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTTGGAACAGCAAGTAGAAA	0.358			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7234-7236)caG>caA		A kinase (PRKA) anchor protein 9							58.0	59.0	59.0					7																	91708647		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91708647G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7236G>A	7.37:g.91708647G>A						AKAP9_ENST00000358100.2_Silent_p.Q2412Q|AKAP9_ENST00000356239.3_Silent_p.Q2400Q	p.Q2412Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	7461	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2412			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.7236G>A																																																																																					0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		52	35	0	0	0	1	0	52	35				
P2RY8	286530	broad.mit.edu	37	X	1584701	1584701	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1584701C>T	ENST00000381297.4	-	2	961	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGTTGGGGGCGAAGCAGGTG	0.657			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(751-753)Gcc>Acc		purinergic receptor P2Y, G-protein coupled, 8							65.0	61.0	62.0					X																	1584701		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584701C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.751G>A	X.37:g.1584701C>T	ENSP00000370697:p.Ala251Thr						p.A251T	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	961	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	251						Missense_Mutation	SNP	ENST00000381297.4	37	c.751G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.074053	0.36566	.	.	ENSG00000182162	ENST00000381297	T	0.71461	-0.57	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.156649	0.41396	U	0.000881	T	0.64338	0.2589	N	0.21282	0.65	0.09310	N	1	D	0.69078	0.997	P	0.54629	0.757	T	0.57556	-0.7791	10	0.13108	T	0.6	.	13.5149	0.61535	0.0:1.0:0.0:0.0	.	251	Q86VZ1	P2RY8_HUMAN	T	251	ENSP00000370697:A251T	ENSP00000370697:A251T	A	-	1	0	P2RY8	1544701	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	4.350000	0.59392	1.007000	0.39238	0.279000	0.19357	GCC		0.657	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		11	27	0	0	0	1	0	11	27				
GLB1	2720	broad.mit.edu	37	3	33099698	33099698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33099698G>A	ENST00000399402.3	-	6	657	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.R206C|GLB1_ENST00000445488.2_Missense_Mutation_p.R254C	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	206					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGGCGAAAGCGCTTCTGCAGG	0.483																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(616-618)Cgc>Tgc		galactosidase, beta 1							39.0	41.0	40.0					3																	33099698		1863	4104	5967	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33099698G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.526C>T	3.37:g.33099698G>A	ENSP00000382333:p.Arg176Cys					GLB1_ENST00000445488.2_Missense_Mutation_p.R254C|GLB1_ENST00000399402.3_Missense_Mutation_p.R176C|GLB1_ENST00000307377.8_Intron	p.R206C	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			6	760	-		Melanoma(143;0.104)	206					B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.616C>T	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	8.093	0.774970	0.16051	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69	5.57	1.83	0.25207	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.593632	0.18659	N	0.134766	D	0.93835	0.8028	L	0.36672	1.1	0.20926	N	0.999824	B;B;B	0.23185	0.081;0.081;0.005	B;B;B	0.19946	0.027;0.027;0.007	D	0.87237	0.2264	10	0.46703	T	0.11	-0.4404	6.5929	0.22656	0.2621:0.0:0.6231:0.1148	.	206;206;254	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	C	176;206;254;47;75	ENSP00000382333:R176C;ENSP00000306920:R206C;ENSP00000393377:R254C;ENSP00000411813:R47C;ENSP00000411769:R75C	ENSP00000306920:R206C	R	-	1	0	GLB1	33074702	0.017000	0.18338	0.034000	0.17996	0.136000	0.21042	0.689000	0.25437	0.120000	0.18254	-0.126000	0.14955	CGC		0.483	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		12	25	0	0	0	1	0	12	25				
BUB1	699	broad.mit.edu	37	2	111398963	111398963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111398963G>A	ENST00000302759.6	-	22	2822	c.2704C>T	c.(2704-2706)Ctt>Ttt	p.L902F	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000535254.1_Missense_Mutation_p.L882F|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	902	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCATGTAAAGCATTCTCATA	0.373																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2644-2646)Ctt>Ttt		BUB1 mitotic checkpoint serine/threonine kinase							126.0	124.0	125.0					2																	111398963		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398963G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2704C>T	2.37:g.111398963G>A	ENSP00000302530:p.Leu902Phe					BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Missense_Mutation_p.L902F|BUB1_ENST00000409311.1_Intron	p.L882F	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2711	-		Ovarian(717;0.0822)	902			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.2644C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333712	0.81801	.	.	ENSG00000169679	ENST00000535254;ENST00000302759	T;T	0.26067	1.76;1.76	5.87	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062472	0.64402	D	0.000002	T	0.44350	0.1289	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69654	0.958;0.965	T	0.08330	-1.0727	10	0.44086	T	0.13	-16.77	14.9005	0.70675	0.0:0.0:0.8562:0.1437	.	882;902	F5GXI5;O43683	.;BUB1_HUMAN	F	882;902	ENSP00000441013:L882F;ENSP00000302530:L902F	ENSP00000302530:L902F	L	-	1	0	BUB1	111115435	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	6.627000	0.74258	2.941000	0.99782	0.655000	0.94253	CTT		0.373	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		56	82	0	0	0	1	0	56	82				
PRDX1	5052	broad.mit.edu	37	1	45981480	45981480	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45981480C>T	ENST00000262746.1	-	3	446		c.e3-1		PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000483583.1_Splice_Site|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACATATTTTCCTGGGGGGAAA	0.403																																						ENST00000262746.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.e3-1		peroxiredoxin 1							76.0	78.0	77.0					1																	45981480		2203	4300	6503	SO:0001630	splice_region_variant	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45981480C>T	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.107-1G>A	1.37:g.45981480C>T						PRDX1_ENST00000483583.1_Splice_Site|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Splice_Site		NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN			3	446	-	Acute lymphoblastic leukemia(166;0.155)							B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Splice_Site	SNP	ENST00000262746.1	37		CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658681	0.88154	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDX1	45754067	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.533000	0.81994	2.873000	0.98535	0.563000	0.77884	.		0.403	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697	Intron	26	30	0	0	0	1	0	26	30				
PDGFRB	5159	broad.mit.edu	37	5	149501462	149501462	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149501462G>A	ENST00000261799.4	-	16	2794	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	775	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTAGTTATCGTAAGGGGCCA	0.512			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2323-2325)taC>taT		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						308.0	238.0	262.0					5																	149501462		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149501462G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2325C>T	5.37:g.149501462G>A							p.Y775Y	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2794	-		all_hematologic(541;0.224)	775			Protein kinase.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.2325C>T	CCDS4303.1																																																																																				0.512	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		29	57	0	0	0	1	0	29	57				
NEB	4703	broad.mit.edu	37	2	152534196	152534196	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152534196G>A	ENST00000172853.10	-	34	3804	c.3657C>T	c.(3655-3657)gcC>gcT	p.A1219A	NEB_ENST00000409198.1_Silent_p.A1219A|NEB_ENST00000604864.1_Silent_p.A1219A|NEB_ENST00000603639.1_Silent_p.A1219A|NEB_ENST00000427231.2_Silent_p.A1219A|NEB_ENST00000397345.3_Silent_p.A1219A			P20929	NEBU_HUMAN	nebulin	1219					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCATCACCGGCCTTTTTAA	0.453																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(3655-3657)gcC>gcT		nebulin							226.0	212.0	216.0					2																	152534196		1899	4120	6019	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534196G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3657C>T	2.37:g.152534196G>A						NEB_ENST00000409198.1_Silent_p.A1219A|NEB_ENST00000397345.3_Silent_p.A1219A|NEB_ENST00000603639.1_Silent_p.A1219A|NEB_ENST00000604864.1_Silent_p.A1219A|NEB_ENST00000172853.10_Silent_p.A1219A	p.A1219A	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3859	-			1219					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.3657C>T																																																																																					0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		61	133	0	0	0	1	0	61	133				
CXCR3	2833	broad.mit.edu	37	X	70836749	70836749	+	Silent	SNP	C	C	T	rs148752439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70836749C>T	ENST00000373693.3	-	2	640	c.573G>A	c.(571-573)tcG>tcA	p.S191S	CXCR3_ENST00000373691.4_Silent_p.S238S	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	191					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CGTGGTGGGCCGACAGGAAGA	0.682																																						ENST00000373691.4																			0				breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10						c.(712-714)tcG>tcA		chemokine (C-X-C motif) receptor 3		C	,	0,3833		0,0,1632,569	40.0	36.0	37.0		714,573	-8.9	0.0	X	dbSNP_134	37	1,6725		0,1,2427,1870	no	coding-synonymous,coding-synonymous	CXCR3	NM_001142797.1,NM_001504.1	,	0,1,4059,2439	TT,TC,CC,C		0.0149,0.0,0.0095	,	238/416,191/369	70836749	1,10558	2201	4298	6499	SO:0001819	synonymous_variant	0				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836749C>T	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.573G>A	X.37:g.70836749C>T						CXCR3_ENST00000373693.3_Silent_p.S191S	p.S238S	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN			2	877	-	Renal(35;0.156)		191					B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	c.714G>A	CCDS14416.1																																																																																				0.682	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			8	17	0	0	0	1	0	8	17				
CD99L2	83692	broad.mit.edu	37	X	149945940	149945940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149945940C>A	ENST00000370377.3	-	8	629	c.512G>T	c.(511-513)gGc>gTc	p.G171V	CD99L2_ENST00000355149.3_Missense_Mutation_p.G99V|CD99L2_ENST00000466436.1_Missense_Mutation_p.G122V|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.G98V	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	171					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTGCTGCCGTACCGGCC	0.557																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(511-513)gGc>gTc		CD99 molecule-like 2							77.0	71.0	73.0					X																	149945940		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149945940C>A	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.512G>T	X.37:g.149945940C>A	ENSP00000359403:p.Gly171Val					CD99L2_ENST00000355149.3_Missense_Mutation_p.G99V|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.G122V|CD99L2_ENST00000437787.2_Missense_Mutation_p.G98V	p.G171V	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			8	629	-	Acute lymphoblastic leukemia(192;6.56e-05)		171					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.512G>T	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944996	0.53079	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436;ENST00000418547	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	4.83	3.95	0.45737	.	0.723737	0.13578	N	0.377533	T	0.49915	0.1585	M	0.80847	2.515	0.54753	D	0.999981	D;D;D;D	0.89917	1.0;0.96;0.977;0.989	D;P;P;P	0.83275	0.996;0.643;0.787;0.845	T	0.48222	-0.9054	9	.	.	.	-18.5826	8.5761	0.33598	0.0:0.8826:0.0:0.1174	.	98;99;122;171	E9PD27;Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;.;C99L2_HUMAN	V	171;175;99;98;122;134	ENSP00000359403:G171V;ENSP00000347275:G99V;ENSP00000394858:G98V;ENSP00000417697:G122V;ENSP00000391821:G134V	.	G	-	2	0	CD99L2	149696598	0.000000	0.05858	0.450000	0.26969	0.069000	0.16628	0.191000	0.17076	2.124000	0.65301	0.513000	0.50165	GGC		0.557	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		26	41	1	0	4.87955e-14	1	6.21198e-14	26	41				
RNF121	55298	broad.mit.edu	37	11	71671880	71671880	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71671880G>A	ENST00000361756.3	+	3	547	c.186G>A	c.(184-186)ttG>ttA	p.L62L	RNF121_ENST00000530137.1_Silent_p.L30L|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Silent_p.L30L|RNF121_ENST00000545854.1_De_novo_Start_InFrame|RNF121_ENST00000393713.3_Silent_p.L30L	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	62						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCGCAACCTTGGTGGTGGCCC	0.542																																						ENST00000545854.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13								ring finger protein 121							129.0	95.0	107.0					11																	71671880		2200	4293	6493	SO:0001819	synonymous_variant	55298					integral to membrane	zinc ion binding	g.chr11:71671880G>A	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.186G>A	11.37:g.71671880G>A						RNF121_ENST00000393713.3_Silent_p.L30L|RNF121_ENST00000530137.1_Silent_p.L30L|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000361756.3_Silent_p.L62L|RNF121_ENST00000533380.1_Silent_p.L30L				Q9H920	RN121_HUMAN			0	154	+								B3KSW8|Q6IA57|Q6P449|Q96DB4	Translation_Start_Site	SNP	ENST00000361756.3	37		CCDS8203.1																																																																																				0.542	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		5	51	0	0	0	1	0	5	51				
ZBED1	9189	broad.mit.edu	37	X	2408758	2408758	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2408758C>T	ENST00000381223.4	-	2	206	c.3G>A	c.(1-3)atG>atA	p.M1I	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Start_Codon_SNP_p.M1I|ZBED1_ENST00000381218.3_Start_Codon_SNP_p.M1I|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	1					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTATTCTCCATTGCTTCTC	0.597																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1-3)atG>atA		zinc finger, BED-type containing 1							90.0	98.0	95.0					X																	2408758		2203	4296	6499	SO:0001582	initiator_codon_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408758C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.3G>A	X.37:g.2408758C>T	ENSP00000370621:p.Met1Ile					ZBED1_ENST00000381222.2_Start_Codon_SNP_p.M1I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Start_Codon_SNP_p.M1I	p.M1I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	206	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	1					Q96BY4	Translation_Start_Site	SNP	ENST00000381223.4	37	c.3G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285883	0.40394	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.46	2.46	0.29980	.	0.000000	0.50627	U	0.000107	T	0.73321	0.3572	.	.	.	0.80722	D	1	P	0.39094	0.659	P	0.55391	0.775	T	0.74435	-0.3666	8	0.48119	T	0.1	-31.4904	12.7367	0.57228	0.0:1.0:0.0:0.0	.	1	O96006	ZBED1_HUMAN	I	1	.	ENSP00000370616:M1I	M	-	3	0	ZBED1	2418758	1.000000	0.71417	0.079000	0.20413	0.020000	0.10135	4.989000	0.63870	0.995000	0.38917	0.425000	0.28330	ATG		0.597	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729	Missense_Mutation	45	75	0	0	0	1	0	45	75				
REXO2	25996	broad.mit.edu	37	11	114320644	114320644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114320644G>T	ENST00000265881.5	+	7	804	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000538791.1_Nonsense_Mutation_p.E131*|REXO2_ENST00000539275.1_3'UTR|REXO2_ENST00000539754.1_Nonsense_Mutation_p.E206*	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	221					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AAAAATAGATGAAAAGAAGAG	0.368																																						ENST00000265881.5																			0				cervix(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(661-663)Gaa>Taa		RNA exonuclease 2							103.0	109.0	107.0					11																	114320644		2201	4296	6497	SO:0001587	stop_gained	25996				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding	g.chr11:114320644G>T	AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.661G>T	11.37:g.114320644G>T	ENSP00000265881:p.Glu221*					REXO2_ENST00000539754.1_Nonsense_Mutation_p.E206*|REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000538791.1_Nonsense_Mutation_p.E131*|REXO2_ENST00000539275.1_3'UTR	p.E221*	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)	7	804	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	221					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Nonsense_Mutation	SNP	ENST00000265881.5	37	c.661G>T	CCDS8371.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.2|22.2|22.2	4.256849|4.256849|4.256849	0.80246|0.80246|0.80246	.|.|.	.|.|.	ENSG00000076043|ENSG00000076043|ENSG00000076043	ENST00000265881;ENST00000539754;ENST00000539788;ENST00000538791|ENST00000544827|ENST00000539119;ENST00000538403	.|.|.	.|.|.	.|.|.	5.9|5.9|5.9	4.97|4.97|4.97	0.65823|0.65823|0.65823	.|.|.	0.239585|.|.	0.39210|.|.	N|.|.	0.001435|.|.	.|T|.	.|0.72366|.	.|0.3451|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.72070|.	.|-0.4401|.	.|4|.	0.35671|.|.	T|.|.	0.21|.|.	-10.0089|-10.0089|-10.0089	15.9712|15.9712|15.9712	0.80024|0.80024|0.80024	0.0:0.1349:0.8651:0.0|0.0:0.1349:0.8651:0.0|0.0:0.1349:0.8651:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	221;206;95;131|180|175;137	.|.|.	ENSP00000265881:E221X|.|.	E|M|X	+|+|+	1|3|2	0|0|2	REXO2|REXO2|REXO2	113825854|113825854|113825854	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	6.894000|6.894000|6.894000	0.75655|0.75655|0.75655	1.455000|1.455000|1.455000	0.47813|0.47813|0.47813	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|ATG|TGA		0.368	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	NM_015523		42	101	1	0	3.61848e-18	1	4.7115e-18	42	101				
ECE1	1889	broad.mit.edu	37	1	21585273	21585273	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21585273C>A	ENST00000374893.6	-	6	749	c.675G>T	c.(673-675)caG>caT	p.Q225H	ECE1_ENST00000357071.4_Missense_Mutation_p.Q213H|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000415912.2_Missense_Mutation_p.Q209H|ECE1_ENST00000436918.2_Missense_Mutation_p.Q225H|ECE1_ENST00000264205.6_Missense_Mutation_p.Q222H	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	225					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTGACCACCTGCAGGGTGT	0.602																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(625-627)caG>caT		endothelin converting enzyme 1							185.0	142.0	157.0					1																	21585273		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21585273C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.675G>T	1.37:g.21585273C>A	ENSP00000364028:p.Gln225His					ECE1_ENST00000357071.4_Missense_Mutation_p.Q213H|ECE1_ENST00000436918.2_Missense_Mutation_p.Q225H|ECE1_ENST00000374893.6_Missense_Mutation_p.Q225H|ECE1_ENST00000264205.6_Missense_Mutation_p.Q222H	p.Q209H	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	6	752	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	225					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.627G>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962376	0.34659	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.1	4.18	0.49190	Peptidase M13 (1);	0.114138	0.64402	D	0.000008	T	0.59555	0.2202	N	0.20483	0.58	0.44890	D	0.997903	B;B;B;B;B	0.23128	0.004;0.041;0.009;0.08;0.033	B;B;B;B;B	0.24394	0.004;0.053;0.015;0.032;0.032	T	0.57481	-0.7804	10	0.34782	T	0.22	-19.4449	12.6339	0.56673	0.0:0.9172:0.0:0.0828	.	225;209;225;213;222	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	H	209;213;225;225;222	ENSP00000405088:Q209H;ENSP00000349581:Q213H;ENSP00000364028:Q225H;ENSP00000388439:Q225H;ENSP00000264205:Q222H	ENSP00000264205:Q222H	Q	-	3	2	ECE1	21457860	0.895000	0.30542	1.000000	0.80357	0.971000	0.66376	1.142000	0.31540	2.381000	0.81170	0.591000	0.81541	CAG		0.602	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		5	47	1	0	0.0215528	1	0.0221649	5	47				
THSD4	79875	broad.mit.edu	37	15	72063538	72063538	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72063538C>T	ENST00000355327.3	+	17	3039	c.2905C>T	c.(2905-2907)Cct>Tct	p.P969S	THSD4_ENST00000261862.6_Missense_Mutation_p.P969S|THSD4_ENST00000357769.4_Missense_Mutation_p.P609S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	969					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGACTGTGTCCCTGAAGTTGG	0.448																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2905-2907)Cct>Tct		thrombospondin, type I, domain containing 4							133.0	125.0	127.0					15																	72063538		1854	4094	5948	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72063538C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2905C>T	15.37:g.72063538C>T	ENSP00000347484:p.Pro969Ser					THSD4_ENST00000261862.6_Missense_Mutation_p.P969S|THSD4_ENST00000357769.4_Missense_Mutation_p.P609S	p.P969S			Q6ZMP0	THSD4_HUMAN			17	3039	+			969					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2905C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853647	0.71719	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.62941	-0.01;-0.01;0.27	5.05	5.05	0.67936	.	.	.	.	.	T	0.59851	0.2224	L	0.40543	1.245	0.80722	D	1	P;P	0.52842	0.915;0.956	B;P	0.48114	0.313;0.567	T	0.57004	-0.7885	9	0.26408	T	0.33	.	15.9236	0.79592	0.0:1.0:0.0:0.0	.	609;969	B4DR13;Q6ZMP0	.;THSD4_HUMAN	S	969;969;609	ENSP00000347484:P969S;ENSP00000261862:P969S;ENSP00000350413:P609S	ENSP00000261862:P969S	P	+	1	0	THSD4	69850592	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.898000	0.69838	2.353000	0.79882	0.557000	0.71058	CCT		0.448	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		46	51	0	0	0	1	0	46	51				
B3GNT5	84002	broad.mit.edu	37	3	182987848	182987848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182987848G>A	ENST00000326505.3	+	2	792	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	88					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGCTCAAGACGTCCTCCTTTT	0.443																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(262-264)Gtc>Atc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							105.0	104.0	104.0					3																	182987848		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987848G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.262G>A	3.37:g.182987848G>A	ENSP00000316173:p.Val88Ile					B3GNT5_ENST00000465010.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.V88I	p.V88I	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	792	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		88					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.262G>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930795	0.34096	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.40225	1.04;1.04;1.04	5.92	3.01	0.34805	.	0.212444	0.39274	N	0.001406	T	0.30008	0.0751	L	0.41415	1.275	0.40208	D	0.977596	B	0.23990	0.095	B	0.15052	0.012	T	0.07139	-1.0788	10	0.20046	T	0.44	.	10.3197	0.43758	0.2261:0.0:0.7739:0.0	.	88	Q9BYG0	B3GN5_HUMAN	I	88	ENSP00000316173:V88I;ENSP00000420778:V88I;ENSP00000417868:V88I	ENSP00000316173:V88I	V	+	1	0	B3GNT5	184470542	0.979000	0.34478	0.593000	0.28771	0.559000	0.35586	4.005000	0.57075	0.335000	0.23614	-0.140000	0.14226	GTC		0.443	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		32	58	0	0	0	1	0	32	58				
CHRDL1	91851	broad.mit.edu	37	X	109924728	109924728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109924728C>T	ENST00000372045.1	-	10	1245	c.1114G>A	c.(1114-1116)Gtt>Att	p.V372I	CHRDL1_ENST00000482160.1_Missense_Mutation_p.V300I|CHRDL1_ENST00000372042.1_Missense_Mutation_p.V380I|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V379I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V378I|CHRDL1_ENST00000434224.1_Missense_Mutation_p.V299I|CHRDL1_ENST00000218054.4_Missense_Mutation_p.V378I			Q9BU40	CRDL1_HUMAN	chordin-like 1	372					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATAGTCCAAACGTGGACCTCT	0.443																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(1132-1134)Gtt>Att		chordin-like 1							184.0	141.0	156.0					X																	109924728		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109924728C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1114G>A	X.37:g.109924728C>T	ENSP00000361115:p.Val372Ile					CHRDL1_ENST00000434224.1_Missense_Mutation_p.V299I|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V379I|CHRDL1_ENST00000372042.1_Missense_Mutation_p.V380I|CHRDL1_ENST00000482160.1_Missense_Mutation_p.V300I|CHRDL1_ENST00000372045.1_Missense_Mutation_p.V372I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V378I	p.V378I	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			10	1328	-			372					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.1132G>A		.	.	.	.	.	.	.	.	.	.	C	17.16	3.318968	0.60524	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.33865	2.14;1.39;2.13;2.13;2.4;1.4;2.14	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	N	0.19112	0.55	0.51012	D	0.999909	D;D;D;D;D;D	0.69078	0.99;0.997;0.997;0.997;0.997;0.997	D;D;D;D;D;D	0.68621	0.923;0.959;0.959;0.959;0.959;0.939	T	0.34079	-0.9843	9	.	.	.	-10.6264	18.0888	0.89468	0.0:1.0:0.0:0.0	.	300;379;359;372;380;299	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	I	372;299;378;378;380;300;379	ENSP00000361115:V372I;ENSP00000389627:V299I;ENSP00000218054:V378I;ENSP00000378276:V378I;ENSP00000361112:V380I;ENSP00000418443:V300I;ENSP00000399739:V379I	.	V	-	1	0	CHRDL1	109811384	0.997000	0.39634	0.988000	0.46212	0.961000	0.63080	2.899000	0.48679	2.403000	0.81681	0.538000	0.68166	GTT		0.443	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		20	120	0	0	0	1	0	20	120				
STON2	85439	broad.mit.edu	37	14	81744288	81744288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81744288G>A	ENST00000267540.2	-	4	1567	c.1367C>T	c.(1366-1368)aCt>aTt	p.T456I	STON2_ENST00000555447.1_Missense_Mutation_p.T456I|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	456	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGGTAACCAGTGTCTGTCAG	0.502																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1366-1368)aCt>aTt		stonin 2							194.0	190.0	191.0					14																	81744288		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744288G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1367C>T	14.37:g.81744288G>A	ENSP00000267540:p.Thr456Ile					STON2_ENST00000267540.2_Missense_Mutation_p.T456I	p.T456I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	1779	-			456			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1367C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	2.755	-0.259237	0.05791	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.11930	2.73;2.74	6.17	3.33	0.38152	Stonin homology (1);	0.632078	0.17115	N	0.186461	T	0.07908	0.0198	N	0.08118	0	0.20074	N	0.999935	B;B	0.28178	0.055;0.202	B;B	0.23716	0.021;0.048	T	0.26018	-1.0115	10	0.72032	D	0.01	0.0354	12.5252	0.56083	0.0:0.4289:0.5069:0.0642	.	456;456	Q8WXE9;G3V2T7	STON2_HUMAN;.	I	456;468;456	ENSP00000450857:T456I;ENSP00000267540:T456I	ENSP00000267540:T456I	T	-	2	0	STON2	80814041	0.001000	0.12720	0.185000	0.23176	0.114000	0.19823	0.496000	0.22499	0.448000	0.26722	-0.147000	0.13772	ACT		0.502	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		96	160	0	0	0	1	0	96	160				
LIG1	3978	broad.mit.edu	37	19	48665519	48665519	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48665519T>G	ENST00000263274.7	-	3	526	c.107A>C	c.(106-108)aAg>aCg	p.K36T	LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Splice_Site_p.K36T|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	36					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGTGACATACTTTGGAGGGGG	0.478								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.e3+1	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						189.0	184.0	185.0					19																	48665519		2203	4300	6503	SO:0001630	splice_region_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48665519T>G		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.107+1A>C	19.37:g.48665519T>G						LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Splice_Site_p.K36_splice	p.K36_splice	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	3	526	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	36					B2RAI8|Q2TB12|Q32P23	Splice_Site	SNP	ENST00000263274.7	37	c.107_splice	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125408	0.77436	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000536218;ENST00000542460	T;T;T	0.68624	0.07;-0.34;1.91	4.02	4.02	0.46733	.	0.057201	0.64402	D	0.000002	T	0.77061	0.4075	M	0.66939	2.045	0.31004	N	0.719989	D;P	0.69078	0.997;0.665	D;B	0.78314	0.991;0.22	T	0.76553	-0.2917	9	.	.	.	-25.4797	9.916	0.41434	0.0:0.0:0.0:1.0	.	36;36	F5GZ28;P18858	.;DNLI1_HUMAN	T	36;68;36;36	ENSP00000263274:K36T;ENSP00000441531:K36T;ENSP00000445928:K36T	.	K	-	2	0	LIG1	53357331	1.000000	0.71417	0.790000	0.31976	0.325000	0.28411	3.229000	0.51278	1.762000	0.52044	0.533000	0.62120	AAG		0.478	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	Missense_Mutation	80	128	0	0	0	1	0	80	128				
DENND2A	27147	broad.mit.edu	37	7	140244525	140244525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140244525G>A	ENST00000275884.6	-	13	2637	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	DENND2A_ENST00000492720.1_Silent_p.H740H|DENND2A_ENST00000537639.1_Silent_p.H740H|DENND2A_ENST00000496613.1_Silent_p.H740H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	740	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAAGTCCACGTGCTCGAGCC	0.617																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2218-2220)caC>caT		DENN/MADD domain containing 2A							35.0	42.0	39.0					7																	140244525		2181	4284	6465	SO:0001819	synonymous_variant	27147							g.chr7:140244525G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2220C>T	7.37:g.140244525G>A						DENND2A_ENST00000492720.1_Silent_p.H740H|DENND2A_ENST00000537639.1_Silent_p.H740H|DENND2A_ENST00000496613.1_Silent_p.H740H	p.H740H			Q9ULE3	DEN2A_HUMAN			13	2637	-	Melanoma(164;0.00956)		740			DENN.		C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.2220C>T	CCDS43659.1																																																																																				0.617	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		7	7	0	0	0	1	0	7	7				
NMUR1	10316	broad.mit.edu	37	2	232393400	232393400	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393400A>G	ENST00000305141.4	-	2	465	c.332T>C	c.(331-333)cTg>cCg	p.L111P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	111					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGGCCCACCAGCAGCACCAG	0.602																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(331-333)cTg>cCg		neuromedin U receptor 1							83.0	89.0	87.0					2																	232393400		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393400A>G	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.332T>C	2.37:g.232393400A>G	ENSP00000305877:p.Leu111Pro						p.L111P	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	465	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	111					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.332T>C	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	a	22.7	4.323083	0.81580	.	.	ENSG00000171596	ENST00000305141	T	0.47177	0.85	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.072951	0.56097	D	0.000025	T	0.81564	0.4849	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89158	0.3528	10	0.87932	D	0	-22.1362	14.1057	0.65088	1.0:0.0:0.0:0.0	.	111	Q9HB89	NMUR1_HUMAN	P	111	ENSP00000305877:L111P	ENSP00000305877:L111P	L	-	2	0	NMUR1	232101644	1.000000	0.71417	0.904000	0.35570	0.998000	0.95712	9.265000	0.95647	1.933000	0.56026	0.454000	0.30748	CTG		0.602	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		28	65	0	0	0	1	0	28	65				
MET	4233	broad.mit.edu	37	7	116418857	116418857	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116418857A>G	ENST00000318493.6	+	17	3609	c.3422A>G	c.(3421-3423)cAa>cGa	p.Q1141R	MET_ENST00000539704.1_5'UTR|MET_ENST00000397752.3_Missense_Mutation_p.Q1123R			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGTTTCCCAATTTCTGACC	0.438			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3367-3369)cAa>cGa		met proto-oncogene							93.0	90.0	90.0					7																	116418857		1890	4119	6009	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116418857A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3422A>G	7.37:g.116418857A>G	ENSP00000317272:p.Gln1141Arg					MET_ENST00000318493.6_Missense_Mutation_p.Q1141R|MET_ENST00000539704.1_5'UTR	p.Q1123R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		17	3568	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1123			Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3368A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746425	0.89663	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	D;D	0.82526	-1.62;-1.62	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	N	0.13043	0.29	0.80722	D	1	P;D	0.60575	0.95;0.988	D;D	0.75484	0.926;0.986	D	0.85807	0.1377	10	0.48119	T	0.1	.	15.8844	0.79232	1.0:0.0:0.0:0.0	.	1141;1123	P08581-2;P08581	.;MET_HUMAN	R	1123;1141	ENSP00000380860:Q1123R;ENSP00000317272:Q1141R	ENSP00000317272:Q1141R	Q	+	2	0	MET	116206093	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.218000	0.71995	0.533000	0.62120	CAA		0.438	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			7	57	0	0	0	1	0	7	57				
ATXN1	6310	broad.mit.edu	37	6	16327654	16327654	+	Silent	SNP	G	G	A	rs140153287	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16327654G>A	ENST00000244769.4	-	8	1824	c.888C>T	c.(886-888)tcC>tcT	p.S296S	ATXN1_ENST00000436367.1_Silent_p.S296S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	296					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGTGGCTGCCGGAGTCGGCGT	0.657													G|||	13	0.00259585	0.0	0.0072	5008	,	,		12616	0.0079		0.0	False		,,,				2504	0.0					ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(886-888)tcC>tcT		ataxin 1		G	,	1,4405	2.1+/-5.4	0,1,2202	32.0	35.0	34.0		888,888	-0.2	0.9	6	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATXN1	NM_000332.3,NM_001128164.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	296/816,296/816	16327654	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327654G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.888C>T	6.37:g.16327654G>A						ATXN1_ENST00000436367.1_Silent_p.S296S	p.S296S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1824	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	296					Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.888C>T	CCDS34342.1																																																																																				0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		21	24	0	0	0	1	0	21	24				
MUC5B	727897	broad.mit.edu	37	11	1268914	1268914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1268914C>T	ENST00000529681.1	+	31	10862	c.10804C>T	c.(10804-10806)Cgt>Tgt	p.R3602C	MUC5B_ENST00000447027.1_Missense_Mutation_p.R3605C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3602	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAACATCCGTGCGGCCGG	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10813-10815)Cgt>Tgt		mucin 5B, oligomeric mucus/gel-forming							22.0	25.0	24.0					11																	1268914		1819	3983	5802	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268914C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10804C>T	11.37:g.1268914C>T	ENSP00000436812:p.Arg3602Cys					MUC5B_ENST00000529681.1_Missense_Mutation_p.R3602C|RP11-532E4.2_ENST00000532061.2_RNA	p.R3605C			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10871	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3602	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10813C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	9.013	0.982945	0.18889	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20200	2.09;2.09	4.0	-7.99	0.01131	.	.	.	.	.	T	0.48537	0.1505	M	0.91300	3.195	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.94	T	0.56312	-0.8000	9	0.87932	D	0	.	13.1605	0.59542	0.1418:0.7003:0.1579:0.0	.	4130;3605	A7Y9J9;E9PBJ0	.;.	C	3602;3605;3574;3507	ENSP00000436812:R3602C;ENSP00000415793:R3605C	ENSP00000343037:R3574C	R	+	1	0	MUC5B	1225490	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.723000	0.01866	-1.377000	0.02123	-0.555000	0.04198	CGT		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	51	0	0	0	1	0	25	51				
COL5A1	1289	broad.mit.edu	37	9	137593154	137593154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137593154G>A	ENST00000371817.3	+	4	1043	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	210	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTGGCACCCGGATCCTGGAT	0.567																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(628-630)cGg>cAg		collagen, type V, alpha 1							129.0	100.0	110.0					9																	137593154		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593154G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.629G>A	9.37:g.137593154G>A	ENSP00000360882:p.Arg210Gln					COL5A1_ENST00000464187.1_3'UTR	p.R210Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	1043	+		Myeloproliferative disorder(178;0.0341)	210			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.629G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429644	0.62844	.	.	ENSG00000130635	ENST00000371817	T	0.78481	-1.18	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.86657	0.5985	M	0.65498	2.005	0.51767	D	0.999933	D	0.76494	0.999	D	0.80764	0.994	D	0.85075	0.0942	10	0.33141	T	0.24	.	18.5036	0.90890	0.0:0.0:1.0:0.0	.	210	P20908	CO5A1_HUMAN	Q	210	ENSP00000360882:R210Q	ENSP00000360882:R210Q	R	+	2	0	COL5A1	136732975	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	9.489000	0.97949	2.428000	0.82296	0.491000	0.48974	CGG		0.567	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	13	0	0	0	1	0	6	13				
KLHL14	57565	broad.mit.edu	37	18	30254669	30254669	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30254669G>T	ENST00000359358.4	-	9	2276	c.1838C>A	c.(1837-1839)cCt>cAt	p.P613H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	613						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACACAGGCAGGGCCTGCCAA	0.463																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1837-1839)cCt>cAt		kelch-like family member 14							220.0	216.0	217.0					18																	30254669		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30254669G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1838C>A	18.37:g.30254669G>T	ENSP00000352314:p.Pro613His						p.P613H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			9	2276	-			613					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1838C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970794	0.92919	.	.	ENSG00000197705	ENST00000359358	T	0.63255	-0.03	5.95	5.95	0.96441	Galactose oxidase, beta-propeller (1);	0.378152	0.32671	N	0.005797	T	0.60340	0.2261	N	0.01874	-0.695	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75150	-0.3419	10	0.72032	D	0.01	.	20.3886	0.98946	0.0:0.0:1.0:0.0	.	613	Q9P2G3	KLH14_HUMAN	H	613	ENSP00000352314:P613H	ENSP00000352314:P613H	P	-	2	0	KLHL14	28508667	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	9.461000	0.97646	2.810000	0.96702	0.650000	0.86243	CCT		0.463	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			13	140	1	0	0.0242445	1	0.0249276	13	140				
IMPDH1	3614	broad.mit.edu	37	7	128049495	128049495	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128049495C>A	ENST00000338791.6	-	2	540	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	IMPDH1_ENST00000378717.4_Intron|IMPDH1_ENST00000419067.2_Splice_Site_p.E64*|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000354269.5_Intron|IMPDH1_ENST00000348127.6_Intron	NM_000883.3	NP_000874.2			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TTGGAGCCACCTGAACGGGGT	0.547																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.e2+1		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						225.0	246.0	239.0					7																	128049495		2203	4300	6503	SO:0001630	splice_region_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128049495C>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000338791.6:c.190+1G>T	7.37:g.128049495C>A						IMPDH1_ENST00000354269.5_Intron|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000419067.2_Splice_Site_p.E64_splice|IMPDH1_ENST00000378717.4_Intron	p.E64_splice	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			2	540	-			0						Splice_Site	SNP	ENST00000338791.6	37	c.190_splice	CCDS34749.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836305	0.71373	.	.	ENSG00000106348	ENST00000419067;ENST00000338791	.	.	.	4.22	-2.76	0.05896	.	4.690930	0.01136	U	0.006087	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1225	0.14867	0.0:0.4332:0.1797:0.3871	.	.	.	.	X	64	.	.	E	-	1	0	IMPDH1	127836731	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.082000	0.11304	-0.243000	0.09653	-0.378000	0.06908	GAA		0.547	IMPDH1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349458.1	NM_000883	Nonsense_Mutation	6	194	1	0	3.59834e-05	1	4.01776e-05	6	194				
KCNJ11	3767	broad.mit.edu	37	11	17409205	17409205	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17409205G>T	ENST00000339994.4	-	1	1001	c.434C>A	c.(433-435)gCc>gAc	p.A145D	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.A58D	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	145					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GATCAGGATGGCCAGTGGGCA	0.562											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(433-435)gCc>gAc		potassium inwardly-rectifying channel, subfamily J, member 11							123.0	97.0	106.0					11																	17409205		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409205G>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.434C>A	11.37:g.17409205G>T	ENSP00000345708:p.Ala145Asp		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.A58D	p.A145D	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1001	-			58					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.434C>A	CCDS31436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.23|17.23	3.337381|3.337381	0.60963|0.60963	.|.	.|.	ENSG00000187486|ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912|ENST00000528992	D;D;D|.	0.95949|.	-3.86;-3.86;-3.86|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87136|0.87136	0.6102|0.6102	M|M	0.94142|0.94142	3.5|3.5	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91138|0.91138	0.4943|0.4943	10|5	0.87932|.	D|.	0|.	.|.	18.1102|18.1102	0.89533|0.89533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	145|.	B2RC52|.	.|.	D|T	145;58;58|151	ENSP00000345708:A145D;ENSP00000434755:A58D;ENSP00000432729:A58D|.	ENSP00000345708:A145D|.	A|P	-|-	2|1	0|0	KCNJ11|KCNJ11	17365781|17365781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.599000|0.599000	0.36880|0.36880	9.869000|9.869000	0.99810|0.99810	2.281000|2.281000	0.76405|0.76405	0.462000|0.462000	0.41574|0.41574	GCC|CCA		0.562	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		3	25	1	0	0.00024832	1	0.0002712	3	25				
FXR2	9513	broad.mit.edu	37	17	7496092	7496092	+	Missense_Mutation	SNP	C	C	T	rs562525637		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496092C>T	ENST00000250113.7	-	14	1983	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	550	Poly-Arg.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		AGTGCGGCGGCGGCGGGAGCG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13338	0.0		0.0	False		,,,				2504	0.0					ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1648-1650)cGc>cAc		fragile X mental retardation, autosomal homolog 2							19.0	21.0	20.0					17																	7496092		1886	4094	5980	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496092C>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1649G>A	17.37:g.7496092C>T	ENSP00000250113:p.Arg550His					MPDU1_ENST00000423172.2_3'UTR	p.R550H	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1983	-			550			Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1649G>A	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081601	0.94050	.	.	ENSG00000129245	ENST00000250113	T	0.48836	0.8	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.63395	-0.6647	10	0.56958	D	0.05	-0.9459	17.3985	0.87453	0.0:1.0:0.0:0.0	.	550	P51116	FXR2_HUMAN	H	550	ENSP00000250113:R550H	ENSP00000250113:R550H	R	-	2	0	FXR2	7436817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.306000	0.78905	2.785000	0.95823	0.655000	0.94253	CGC		0.632	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			5	11	0	0	0	1	0	5	11				
MYH10	4628	broad.mit.edu	37	17	8415869	8415869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8415869A>G	ENST00000269243.4	-	22	2897	c.2759T>C	c.(2758-2760)tTa>tCa	p.L920S	MYH10_ENST00000360416.3_Missense_Mutation_p.L951S|MYH10_ENST00000396239.1_Missense_Mutation_p.L941S|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.L936S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	920					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATCTCTTCTAATTCCTGCTT	0.393																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2851-2853)tTa>tCa		myosin, heavy chain 10, non-muscle							92.0	87.0	89.0					17																	8415869		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415869A>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2759T>C	17.37:g.8415869A>G	ENSP00000269243:p.Leu920Ser					MYH10_ENST00000269243.4_Missense_Mutation_p.L920S|MYH10_ENST00000396239.1_Missense_Mutation_p.L941S|MYH10_ENST00000379980.4_Missense_Mutation_p.L936S	p.L951S	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	2990	-			920					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.2852T>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166455	0.78339	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	D	0.98510	0.9503	H	0.97758	4.07	0.51012	D	0.999908	P;D;D	0.59357	0.928;0.957;0.985	P;D;D	0.65443	0.862;0.935;0.915	D	0.99727	1.1011	10	0.87932	D	0	.	15.7119	0.77635	1.0:0.0:0.0:0.0	.	929;951;920	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	S	920;951;941;936	ENSP00000269243:L920S;ENSP00000353590:L951S;ENSP00000379539:L941S;ENSP00000369315:L936S	ENSP00000269243:L920S	L	-	2	0	MYH10	8356594	0.988000	0.35896	0.017000	0.16124	0.981000	0.71138	9.131000	0.94446	2.291000	0.77112	0.533000	0.62120	TTA		0.393	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			26	39	0	0	0	1	0	26	39				
ZNF608	57507	broad.mit.edu	37	5	123983871	123983871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123983871G>A	ENST00000306315.5	-	4	2641	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	ZNF608_ENST00000504926.1_Missense_Mutation_p.R309W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	736							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAATGGGCCGGGCACTTTTC	0.493																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(2206-2208)Cgg>Tgg		zinc finger protein 608							23.0	25.0	25.0					5																	123983871		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983871G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2206C>T	5.37:g.123983871G>A	ENSP00000307746:p.Arg736Trp					ZNF608_ENST00000504926.1_Missense_Mutation_p.R309W	p.R736W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2641	-		all_cancers(142;0.186)|Prostate(80;0.081)	736					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.2206C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321292	0.60634	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.75050	-0.9;-0.89	6.01	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.85053	0.5609	M	0.73962	2.25	0.52099	D	0.999941	D	0.89917	1.0	D	0.91635	0.999	D	0.85781	0.1361	10	0.66056	D	0.02	-21.5669	14.0532	0.64751	0.0:0.0:0.7227:0.2773	.	736	Q9ULD9	ZN608_HUMAN	W	309;736	ENSP00000427657:R309W;ENSP00000307746:R736W	ENSP00000307746:R736W	R	-	1	2	ZNF608	124011770	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.190000	0.50973	2.852000	0.98041	0.643000	0.83706	CGG		0.493	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	12	0	0	0	1	0	7	12				
WDR27	253769	broad.mit.edu	37	6	170033068	170033068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170033068G>A	ENST00000448612.1	-	21	2307	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	WDR27_ENST00000333572.6_Missense_Mutation_p.P733L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.P606L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	703						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TTGATGGACAGGCCGTGAGTG	0.468																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(2197-2199)cCt>cTt		WD repeat domain 27							73.0	76.0	75.0					6																	170033068		1933	4134	6067	SO:0001583	missense	253769							g.chr6:170033068G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2198C>T	6.37:g.170033068G>A	ENSP00000416289:p.Pro733Leu					WDR27_ENST00000423258.1_Missense_Mutation_p.P606L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.P733L	p.P733L			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	21	2717	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	703					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.2198C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735876	0.69189	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.38077	4.91;1.16;4.91	5.04	5.04	0.67666	.	0.357184	0.25575	N	0.029728	T	0.36608	0.0973	M	0.65498	2.005	0.80722	D	1	B;D;D	0.58620	0.047;0.983;0.971	B;P;P	0.54544	0.018;0.755;0.733	T	0.21759	-1.0236	10	0.10636	T	0.68	-29.3587	17.169	0.86824	0.0:0.0:1.0:0.0	.	733;606;733	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	L	733;733;606	ENSP00000416289:P733L;ENSP00000330265:P733L;ENSP00000397869:P606L	ENSP00000330265:P733L	P	-	2	0	WDR27	169774993	1.000000	0.71417	0.859000	0.33776	0.889000	0.51656	3.368000	0.52357	2.321000	0.78463	0.650000	0.86243	CCT		0.468	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		8	13	0	0	0	1	0	8	13				
CASD1	64921	broad.mit.edu	37	7	94176487	94176487	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94176487G>T	ENST00000297273.4	+	13	2000	c.1713G>T	c.(1711-1713)caG>caT	p.Q571H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATATTCTCAGGTTTGTACAA	0.279																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.e13+1		CAS1 domain containing 1							100.0	97.0	98.0					7																	94176487		2202	4298	6500	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94176487G>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1713+1G>T	7.37:g.94176487G>T							p.Q571_splice	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	2000	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		571					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Splice_Site	SNP	ENST00000297273.4	37	c.1713_splice	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990264	0.74589	.	.	ENSG00000127995	ENST00000297273	T	0.47528	0.84	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.81914	0.995;0.995	T	0.69510	-0.5126	10	0.87932	D	0	.	19.0132	0.92882	0.0:0.0:1.0:0.0	.	571;571	Q8WZ77;Q96PB1	.;CASD1_HUMAN	H	571	ENSP00000297273:Q571H	ENSP00000297273:Q571H	Q	+	3	2	CASD1	94014423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.526000	0.81920	2.578000	0.87016	0.555000	0.69702	CAG		0.279	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	Missense_Mutation	6	61	1	0	5.18039e-06	1	5.91835e-06	6	61				
SMARCC1	6599	broad.mit.edu	37	3	47629740	47629740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47629740G>T	ENST00000254480.5	-	28	3396	c.3277C>A	c.(3277-3279)Ccg>Acg	p.P1093T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1093	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCAGGAGGCGGAGGGACCCCA	0.597																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3277-3279)Ccg>Acg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							56.0	60.0	59.0					3																	47629740		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47629740G>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.3277C>A	3.37:g.47629740G>T	ENSP00000254480:p.Pro1093Thr					SMARCC1_ENST00000425518.1_5'UTR	p.P1093T	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	28	3396	-			1093			Pro-rich.		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.3277C>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127265	0.56721	.	.	ENSG00000173473	ENST00000254480	T	0.37411	1.2	5.77	5.77	0.91146	.	0.341140	0.27240	N	0.020261	T	0.25082	0.0609	N	0.08118	0	0.41798	D	0.989907	B	0.31318	0.319	B	0.36666	0.23	T	0.14035	-1.0487	10	0.37606	T	0.19	-10.8037	15.4916	0.75611	0.0:0.0:1.0:0.0	.	1093	Q92922	SMRC1_HUMAN	T	1093	ENSP00000254480:P1093T	ENSP00000254480:P1093T	P	-	1	0	SMARCC1	47604744	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	4.019000	0.57181	2.723000	0.93209	0.655000	0.94253	CCG		0.597	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			15	25	1	0	2.31682e-05	1	2.60394e-05	15	25				
EDEM3	80267	broad.mit.edu	37	1	184688655	184688655	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184688655A>G	ENST00000318130.8	-	10	1265	c.999T>C	c.(997-999)ctT>ctC	p.L333L	EDEM3_ENST00000367512.3_Silent_p.L290L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	333					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGCACATCAAGTAGAAGAG	0.408																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(997-999)ctT>ctC		ER degradation enhancer, mannosidase alpha-like 3							99.0	92.0	94.0					1																	184688655		2203	4300	6503	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184688655A>G	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.999T>C	1.37:g.184688655A>G						EDEM3_ENST00000367512.3_Silent_p.L290L	p.L333L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			10	1265	-			333					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.999T>C	CCDS1363.2																																																																																				0.408	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		35	27	0	0	0	1	0	35	27				
SPG7	6687	broad.mit.edu	37	16	89579416	89579416	+	Missense_Mutation	SNP	C	C	T	rs149474131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89579416C>T	ENST00000268704.2	+	3	362	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SPG7_ENST00000341316.2_Missense_Mutation_p.S116L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	116					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		aaggataagtcgaaggggaag	0.393																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(346-348)tCg>tTg		spastic paraplegia 7 (pure and complicated autosomal recessive)		C	LEU/SER,LEU/SER	0,4392		0,0,2196	127.0	118.0	121.0		347,347	4.4	0.0	16	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPG7	NM_003119.2,NM_199367.1	145,145	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	116/796,116/490	89579416	1,12991	2196	4300	6496	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89579416C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.347C>T	16.37:g.89579416C>T	ENSP00000268704:p.Ser116Leu					SPG7_ENST00000341316.2_Missense_Mutation_p.S116L	p.S116L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	3	362	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	116					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.347C>T	CCDS10977.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.771	1.172571	0.21704	0.0	1.16E-4	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94000	-3.12;-3.33	4.36	4.36	0.52297	Peptidase M41, FtsH (1);	0.496700	0.22248	N	0.062588	D	0.84875	0.5569	N	0.19112	0.55	0.09310	N	1	B;P	0.39601	0.414;0.68	B;B	0.30716	0.028;0.119	T	0.77210	-0.2671	10	0.29301	T	0.29	-0.5026	12.7512	0.57310	0.0:1.0:0.0:0.0	.	116;116	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	L	116	ENSP00000268704:S116L;ENSP00000341157:S116L	ENSP00000268704:S116L	S	+	2	0	SPG7	88106917	0.743000	0.28239	0.003000	0.11579	0.011000	0.07611	3.220000	0.51207	2.142000	0.66516	0.591000	0.81541	TCG		0.393	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		8	30	0	0	0	1	0	8	30				
DUSP14	11072	broad.mit.edu	37	17	35872424	35872424	+	Missense_Mutation	SNP	G	G	A	rs368619264		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35872424G>A	ENST00000487847.1	+	2	1028	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	DUSP14_ENST00000394386.1_Missense_Mutation_p.R17Q|DUSP14_ENST00000394389.4_Missense_Mutation_p.R17Q			O95147	DUS14_HUMAN	dual specificity phosphatase 14	17					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ATGGCCCCTCGGATGATTTCC	0.567																																						ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(49-51)cGg>cAg		dual specificity phosphatase 14		G	GLN/ARG	0,4406		0,0,2203	54.0	48.0	50.0		50	4.7	1.0	17		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP14	NM_007026.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	17/199	35872424	1,13005	2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872424G>A	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.50G>A	17.37:g.35872424G>A	ENSP00000466299:p.Arg17Gln					DUSP14_ENST00000394389.4_Missense_Mutation_p.R17Q|DUSP14_ENST00000394386.1_Missense_Mutation_p.R17Q	p.R17Q			O95147	DUS14_HUMAN			2	1028	+		Breast(25;0.00637)|Ovarian(249;0.15)	17						Missense_Mutation	SNP	ENST00000487847.1	37	c.50G>A	CCDS11320.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191843	0.38707	0.0	1.16E-4	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.60920	0.15;0.15	5.69	4.73	0.59995	.	0.183820	0.38837	N	0.001549	T	0.40979	0.1139	N	0.08118	0	0.41089	D	0.985586	D	0.58620	0.983	P	0.49192	0.602	T	0.26189	-1.0110	10	0.10377	T	0.69	.	12.49	0.55895	0.0778:0.0:0.9222:0.0	.	17	O95147	DUS14_HUMAN	Q	17	ENSP00000377912:R17Q;ENSP00000377910:R17Q	ENSP00000377910:R17Q	R	+	2	0	DUSP14	32946537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.011000	0.88624	1.426000	0.47256	0.555000	0.69702	CGG		0.567	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		3	32	0	0	0	1	0	3	32				
FLNC	2318	broad.mit.edu	37	7	128496579	128496579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128496579G>T	ENST00000325888.8	+	44	7520	c.7259G>T	c.(7258-7260)gGg>gTg	p.G2420V	FLNC_ENST00000346177.6_Missense_Mutation_p.G2387V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2420	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGAGACGGGGCTCAAGGTG	0.657																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7258-7260)gGg>gTg		filamin C, gamma							60.0	70.0	67.0					7																	128496579		2070	4175	6245	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496579G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7259G>T	7.37:g.128496579G>T	ENSP00000327145:p.Gly2420Val					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2387V	p.G2420V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			44	7520	+			2420			Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7259G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042597	0.55003	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84730	-1.89;-1.89	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.174113	0.49305	D	0.000146	D	0.90769	0.7102	M	0.84683	2.71	0.80722	D	1	P;P	0.41710	0.581;0.76	P;P	0.48982	0.543;0.597	D	0.92421	0.5945	10	0.87932	D	0	.	18.522	0.90956	0.0:0.0:1.0:0.0	.	2387;2420	Q14315-2;Q14315	.;FLNC_HUMAN	V	2420;2387	ENSP00000327145:G2420V;ENSP00000344002:G2387V	ENSP00000327145:G2420V	G	+	2	0	FLNC	128283815	1.000000	0.71417	0.997000	0.53966	0.607000	0.37147	3.884000	0.56175	2.432000	0.82394	0.557000	0.71058	GGG		0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			21	94	1	0	9.57634e-11	1	1.18454e-10	21	94				
DOCK11	139818	broad.mit.edu	37	X	117718715	117718715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117718715C>T	ENST00000276202.7	+	15	1676	c.1613C>T	c.(1612-1614)aCt>aTt	p.T538I	DOCK11_ENST00000276204.6_Missense_Mutation_p.T538I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	538					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAAAGATACTCAAGGCTCT	0.338																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(1612-1614)aCt>aTt		dedicator of cytokinesis 11							61.0	61.0	61.0					X																	117718715		2203	4298	6501	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117718715C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1613C>T	X.37:g.117718715C>T	ENSP00000276202:p.Thr538Ile					DOCK11_ENST00000276202.7_Missense_Mutation_p.T538I|DOCK11_ENST00000498252.1_3'UTR	p.T538I			Q5JSL3	DOC11_HUMAN			15	1687	+			538					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.1613C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	7.309	0.614572	0.14129	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.03035	4.07;4.07	5.24	-8.4	0.00965	.	1.095190	0.06876	N	0.801676	T	0.04724	0.0128	L	0.51422	1.61	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.19946	0.007;0.027	T	0.25606	-1.0127	10	0.22706	T	0.39	-7.2066	16.5534	0.84478	0.1003:0.7885:0.0:0.1112	.	538;538	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	538	ENSP00000276204:T538I;ENSP00000276202:T538I	ENSP00000276202:T538I	T	+	2	0	DOCK11	117602743	0.072000	0.21174	0.004000	0.12327	0.756000	0.42949	0.103000	0.15292	-2.379000	0.00595	-0.503000	0.04515	ACT		0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		37	52	0	0	0	1	0	37	52				
TOPBP1	11073	broad.mit.edu	37	3	133362997	133362997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133362997G>A	ENST00000260810.5	-	11	1846	c.1715C>T	c.(1714-1716)gCa>gTa	p.A572V	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	572	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TATGATGTTTGCGATGTTAGA	0.403								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1714-1716)gCa>gTa	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							84.0	79.0	80.0					3																	133362997		1881	4106	5987	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133362997G>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1715C>T	3.37:g.133362997G>A	ENSP00000260810:p.Ala572Val					TOPBP1_ENST00000511439.1_5'UTR	p.A572V	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			11	1846	-			572			BRCT 4.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.1715C>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	0.305	-0.971127	0.02232	.	.	ENSG00000163781	ENST00000260810	T	0.10860	2.83	5.72	-0.834	0.10779	BRCT (2);	0.581435	0.20672	N	0.087802	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33954	-0.9848	10	0.25106	T	0.35	.	1.1487	0.01781	0.3393:0.2171:0.3132:0.1303	.	572	Q92547	TOPB1_HUMAN	V	572	ENSP00000260810:A572V	ENSP00000260810:A572V	A	-	2	0	TOPBP1	134845687	0.010000	0.17322	0.198000	0.23420	0.009000	0.06853	0.766000	0.26560	-0.191000	0.10448	-0.218000	0.12543	GCA		0.403	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		13	26	0	0	0	1	0	13	26				
KMT2E	55904	broad.mit.edu	37	7	104752553	104752553	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104752553T>G	ENST00000311117.3	+	27	4895	c.4350T>G	c.(4348-4350)ccT>ccG	p.P1450P	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Silent_p.P505P|KMT2E_ENST00000334877.4_Silent_p.P1408P|KMT2E_ENST00000257745.4_Silent_p.P1450P	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1450	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TAGAAAATCCTCCAAAGTCAT	0.478																																						ENST00000334877.4																			0											c.(4222-4224)ccT>ccG		lysine (K)-specific methyltransferase 2E							152.0	143.0	146.0					7																	104752553		2203	4300	6503	SO:0001819	synonymous_variant	55904							g.chr7:104752553T>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4350T>G	7.37:g.104752553T>G						SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Silent_p.P1450P|KMT2E_ENST00000257745.4_Silent_p.P1450P|KMT2E_ENST00000334914.7_Silent_p.P505P	p.P1408P							26	4758	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.4224T>G	CCDS34723.1																																																																																				0.478	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			5	107	0	0	0	1	0	5	107				
AKAP2	11217	broad.mit.edu	37	9	112899576	112899576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899576G>A	ENST00000259318.7	+	2	1266	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	AKAP2_ENST00000434623.2_Silent_p.K442K|AKAP2_ENST00000374525.1_Silent_p.K442K|AKAP2_ENST00000555236.1_Silent_p.K584K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K584K|AKAP2_ENST00000510514.5_Silent_p.K584K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K584K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	353										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCTCCATCAAGCCTTTCTACA	0.542																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1750-1752)aaG>aaA									46.0	49.0	48.0					9																	112899576		2203	4300	6503	SO:0001819	synonymous_variant	0						enzyme binding	g.chr9:112899576G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1059G>A	9.37:g.112899576G>A						PALM2-AKAP2_ENST00000302798.7_Silent_p.K584K|AKAP2_ENST00000259318.7_Silent_p.K353K|AKAP2_ENST00000510514.5_Silent_p.K584K|AKAP2_ENST00000434623.2_Silent_p.K442K|AKAP2_ENST00000374525.1_Silent_p.K442K|AKAP2_ENST00000555236.1_Silent_p.K584K	p.K584K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1932	+			353					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.1752G>A	CCDS48003.1																																																																																				0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		16	31	0	0	0	1	0	16	31				
EMR2	30817	broad.mit.edu	37	19	14877859	14877859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14877859G>T	ENST00000315576.3	-	6	869	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	EMR2_ENST00000595839.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L140I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000601345.1_Missense_Mutation_p.L140I|EMR2_ENST00000596991.2_Missense_Mutation_p.L140I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.L140I|EMR2_ENST00000392965.3_Missense_Mutation_p.L140I|EMR2_ENST00000392967.2_Missense_Mutation_p.L140I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392964.3_5'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	140	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TAGCTGCCGAGGGTGTTGACG	0.582																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(418-420)Ctc>Atc		egf-like module containing, mucin-like, hormone receptor-like 2							60.0	61.0	61.0					19																	14877859		2202	4278	6480	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877859G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.418C>A	19.37:g.14877859G>T	ENSP00000319883:p.Leu140Ile					EMR2_ENST00000392967.2_Missense_Mutation_p.L140I|EMR2_ENST00000346057.1_Missense_Mutation_p.L140I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L140I|EMR2_ENST00000594294.1_Missense_Mutation_p.L140I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000392965.3_Missense_Mutation_p.L140I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L140I	p.L140I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			6	869	-			140			EGF-like 3; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.418C>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591495	0.28357	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	3.49	-0.494	0.12034	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.80819	0.4696	N	0.11064	0.09	0.09310	N	1	P;B;B;B	0.34462	0.454;0.03;0.007;0.016	B;B;B;B	0.34180	0.177;0.009;0.011;0.009	T	0.70335	-0.4900	9	0.37606	T	0.19	.	5.9406	0.19192	0.0:0.209:0.4334:0.3576	.	140;140;140;140	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	I	140	ENSP00000319883:L140I;ENSP00000376694:L140I;ENSP00000263380:L140I;ENSP00000376692:L140I;ENSP00000376689:L140I	ENSP00000319883:L140I	L	-	1	0	EMR2	14738859	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-1.669000	0.01958	-0.219000	0.10003	0.508000	0.49915	CTC		0.582	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			6	24	1	0	0.000157383	1	0.00017284	6	24				
DNAH17	8632	broad.mit.edu	37	17	76554290	76554290	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76554290T>C	ENST00000585328.1	-	14	2202	c.2078A>G	c.(2077-2079)cAg>cGg	p.Q693R	DNAH17_ENST00000389840.5_Missense_Mutation_p.Q693R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	693	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AATCTCTTTCTGTTGCTGGAA	0.453																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(2077-2079)cAg>cGg		dynein, axonemal, heavy chain 17							93.0	76.0	81.0					17																	76554290		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76554290T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2078A>G	17.37:g.76554290T>C	ENSP00000465516:p.Gln693Arg					DNAH17_ENST00000585328.1_Missense_Mutation_p.Q693R	p.Q693R					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		14	2202	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.2078A>G		.	.	.	.	.	.	.	.	.	.	T	5.580	0.291810	0.10567	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55413	0.52	5.14	4.05	0.47172	.	6.495990	0.00465	N	0.000115	T	0.46502	0.1396	L	0.39245	1.2	0.19300	N	0.999979	B	0.12013	0.005	B	0.18263	0.021	T	0.31420	-0.9944	10	0.14252	T	0.57	.	8.9942	0.36041	0.0:0.0856:0.0:0.9143	.	395	Q9UFH2-4	.	R	693	ENSP00000374490:Q693R	ENSP00000300671:Q693R	Q	-	2	0	DNAH17	74065885	0.997000	0.39634	0.554000	0.28268	0.554000	0.35429	2.781000	0.47750	2.076000	0.62316	0.374000	0.22700	CAG		0.453	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		13	11	0	0	0	1	0	13	11				
LRP1B	53353	broad.mit.edu	37	2	141460049	141460049	+	Missense_Mutation	SNP	C	C	T	rs144546789		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460049C>T	ENST00000389484.3	-	38	7068	c.6097G>A	c.(6097-6099)Gtc>Atc	p.V2033I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2033					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACAAGGACAACCTTCTCT	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6097-6099)Gtc>Atc		low density lipoprotein receptor-related protein 1B							113.0	104.0	107.0					2																	141460049		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141460049C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6097G>A	2.37:g.141460049C>T	ENSP00000374135:p.Val2033Ile	TSP Lung(27;0.18)					p.V2033I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	38	7068	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2033					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6097G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387518	0.42308	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95447	-3.71	5.16	2.35	0.29111	Six-bladed beta-propeller, TolB-like (1);	0.438058	0.21001	U	0.081870	D	0.91858	0.7423	L	0.49640	1.575	0.21105	N	0.99979	B	0.12630	0.006	B	0.10450	0.005	T	0.81333	-0.0980	10	0.29301	T	0.29	.	9.7281	0.40344	0.0:0.7715:0.0:0.2285	.	2033	Q9NZR2	LRP1B_HUMAN	I	2033;1971	ENSP00000374135:V2033I	ENSP00000374135:V2033I	V	-	1	0	LRP1B	141176519	0.996000	0.38824	0.965000	0.40720	0.976000	0.68499	1.569000	0.36428	0.263000	0.21812	0.557000	0.71058	GTC		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	41	0	0	0	1	0	22	41				
CPT1C	126129	broad.mit.edu	37	19	50209545	50209545	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209545G>A	ENST00000392518.4	+	12	1590	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	CPT1C_ENST00000405931.2_Silent_p.E395E|CPT1C_ENST00000323446.5_Silent_p.E406E|CPT1C_ENST00000354199.5_Silent_p.E406E|CPT1C_ENST00000598293.1_Silent_p.E406E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	406					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCCCTGGAGGCGGTGGAAG	0.697																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1216-1218)gaG>gaA		carnitine palmitoyltransferase 1C							26.0	35.0	32.0					19																	50209545		2194	4290	6484	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50209545G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1218G>A	19.37:g.50209545G>A						CPT1C_ENST00000323446.5_Silent_p.E406E|CPT1C_ENST00000598293.1_Silent_p.E406E|CPT1C_ENST00000405931.2_Silent_p.E395E|CPT1C_ENST00000354199.5_Silent_p.E406E	p.E406E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	12	1590	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	406					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.1218G>A	CCDS12779.1																																																																																				0.697	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		3	11	0	0	0	1	0	3	11				
TREML2	79865	broad.mit.edu	37	6	41165904	41165904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41165904G>A	ENST00000483722.1	-	2	504	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	107	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTGTTGCGCATGCACCAG	0.627																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(319-321)Cgc>Tgc		triggering receptor expressed on myeloid cells-like 2							60.0	57.0	58.0					6																	41165904		2203	4296	6499	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41165904G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.319C>T	6.37:g.41165904G>A	ENSP00000418767:p.Arg107Cys						p.R107C	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	504	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		107			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.319C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	20.3	3.966504	0.74131	.	.	ENSG00000112195	ENST00000483722	T	0.65916	-0.18	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.226650	0.31495	N	0.007541	T	0.73745	0.3626	M	0.76838	2.35	0.49798	D	0.999828	D	0.89917	1.0	D	0.97110	1.0	T	0.76879	-0.2796	10	0.59425	D	0.04	-23.457	13.6225	0.62144	0.0:0.0:1.0:0.0	.	107	Q5T2D2	TRML2_HUMAN	C	107	ENSP00000418767:R107C	ENSP00000418767:R107C	R	-	1	0	TREML2	41273882	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.893000	0.39758	2.344000	0.79699	0.563000	0.77884	CGC		0.627	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		18	38	0	0	0	1	0	18	38				
LINS	55180	broad.mit.edu	37	15	101109777	101109777	+	Missense_Mutation	SNP	C	C	A	rs150317593	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101109777C>A	ENST00000314742.8	-	7	2162	c.1940G>T	c.(1939-1941)aGt>aTt	p.S647I	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	647										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGTCTGTTTACTGTTAGCTAA	0.478																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(1939-1941)aGt>aTt		lines homolog (Drosophila)							103.0	100.0	101.0					15																	101109777		2203	4300	6503	SO:0001583	missense	55180							g.chr15:101109777C>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1940G>T	15.37:g.101109777C>A	ENSP00000318423:p.Ser647Ile						p.S647I	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			7	2162	-			647					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.1940G>T	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	7.717	0.696346	0.15106	.	.	ENSG00000140471	ENST00000314742	T	0.09723	2.95	5.22	4.22	0.49857	.	0.174618	0.40064	N	0.001185	T	0.09291	0.0229	L	0.48642	1.525	0.20563	N	0.999885	P	0.36412	0.552	B	0.34652	0.187	T	0.20240	-1.0281	10	0.34782	T	0.22	-6.7497	7.2774	0.26292	0.1945:0.4947:0.3107:0.0	.	647	Q8NG48	LINES_HUMAN	I	647	ENSP00000318423:S647I	ENSP00000318423:S647I	S	-	2	0	LINS	98927300	0.000000	0.05858	0.019000	0.16419	0.304000	0.27724	0.008000	0.13197	2.428000	0.82296	0.591000	0.81541	AGT		0.478	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		6	101	1	0	0.00116845	1	0.00124821	6	101				
OBSCN	84033	broad.mit.edu	37	1	228402555	228402555	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402555C>T	ENST00000422127.1	+	5	1628	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Silent_p.S528S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S528S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGAGTTCCGTGATTCTCA	0.592																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1582-1584)tcC>tcT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							58.0	63.0	62.0					1																	228402555		1975	4141	6116	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228402555C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1584C>T	1.37:g.228402555C>T						OBSCN_ENST00000284548.11_Silent_p.S528S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.S528S	p.S528S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			5	1658	+		Prostate(94;0.0405)	528			Fibronectin type-III 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.1584C>T	CCDS58065.1																																																																																				0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	19	0	0	0	1	0	6	19				
ZCWPW1	55063	broad.mit.edu	37	7	99999559	99999559	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99999559C>A	ENST00000398027.2	-	17	1824	c.1577G>T	c.(1576-1578)aGa>aTa	p.R526I	ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	526							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTTCCCATTCTGGGTGCAGG	0.542																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1576-1578)aGa>aTa		zinc finger, CW type with PWWP domain 1							139.0	135.0	136.0					7																	99999559		1933	4147	6080	SO:0001583	missense	55063						zinc ion binding	g.chr7:99999559C>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1577G>T	7.37:g.99999559C>A	ENSP00000381109:p.Arg526Ile					ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Intron	p.R526I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			17	1824	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		526					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1577G>T	CCDS43623.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|C|C	10.12|10.12|10.12	1.262777|1.262777|1.262777	0.23051|0.23051|0.23051	.|.|.	.|.|.	ENSG00000078487|ENSG00000233389|ENSG00000078487	ENST00000379559|ENST00000449355|ENST00000398027	.|.|T	.|.|0.41400	.|.|1.0	4.36|4.36|4.36	-0.624|-0.624|-0.624	0.11552|0.11552|0.11552	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.12944|0.12944	.|0.0314|0.0314	N|N|N	0.01576|0.01576|0.01576	-0.805|-0.805|-0.805	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|B;B	.|.|0.02656	.|.|0.0;0.0	.|.|B;B	.|.|0.01281	.|.|0.0;0.0	.|T|T	.|0.29458|0.29458	.|-1.0011|-1.0011	.|5|8	.|.|.	.|.|.	.|.|.	.|0.1881|0.1881	4.0971|4.0971|4.0971	0.09996|0.09996|0.09996	0.4455:0.2069:0.3476:0.0|0.4455:0.2069:0.3476:0.0|0.4455:0.2069:0.3476:0.0	.|.|.	.|.|487;526	.|.|B4DXS7;Q9H0M4	.|.|.;ZCPW1_HUMAN	.|M|I	-1|93|526	.|.|ENSP00000381109:R526I	.|.|.	.|L|R	-|+|-	.|1|2	.|2|0	ZCWPW1|AC005071.3|ZCWPW1	99837495|99837495|99837495	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.001000|0.001000|0.001000	0.01503|0.01503|0.01503	-0.790000|-0.790000|-0.790000	0.04604|0.04604|0.04604	0.004000|0.004000|0.004000	0.14682|0.14682|0.14682	-0.262000|-0.262000|-0.262000	0.10625|0.10625|0.10625	.|CTG|AGA		0.542	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		5	167	1	0	1	1	1	5	167				
MAF1	84232	broad.mit.edu	37	8	145161325	145161325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145161325C>T	ENST00000322428.5	+	5	862	c.458C>T	c.(457-459)gCg>gTg	p.A153V	MAF1_ENST00000534585.1_Missense_Mutation_p.A153V|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Missense_Mutation_p.A153V|KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000398712.2_5'Flank	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	153					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTGGAACGCGGTGGACGAG	0.592																																						ENST00000534585.1																			0				central_nervous_system(1)|lung(8)|urinary_tract(1)	10						c.(457-459)gCg>gTg		MAF1 homolog (S. cerevisiae)							130.0	98.0	109.0					8																	145161325		2202	4300	6502	SO:0001583	missense	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145161325C>T		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.458C>T	8.37:g.145161325C>T	ENSP00000318604:p.Ala153Val					MAF1_ENST00000532522.1_Missense_Mutation_p.A153V|MAF1_ENST00000322428.5_Missense_Mutation_p.A153V	p.A153V			Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	849	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		153					D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	c.458C>T	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738036	0.49045	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527058	T;T;T	0.46819	0.86;0.87;0.86	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.64080	1.96	0.80722	D	1	P	0.43024	0.798	B	0.40410	0.328	T	0.32561	-0.9902	10	0.29301	T	0.29	-17.1693	9.8395	0.40991	0.0:0.9059:0.0:0.0941	.	153	Q9H063	MAF1_HUMAN	V	153	ENSP00000318604:A153V;ENSP00000433979:A153V;ENSP00000436720:A153V	ENSP00000318604:A153V	A	+	2	0	MAF1	145233313	1.000000	0.71417	0.530000	0.27963	0.458000	0.32498	6.951000	0.75983	1.316000	0.45131	0.655000	0.94253	GCG		0.592	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		10	21	0	0	0	1	0	10	21				
SRRM2	23524	broad.mit.edu	37	16	2814399	2814399	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814399G>T	ENST00000301740.8	+	11	4419	c.3870G>T	c.(3868-3870)caG>caT	p.Q1290H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1290	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGTCACAGGCTTCTTTGG	0.453																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3868-3870)caG>caT		serine/arginine repetitive matrix 2							119.0	124.0	122.0					16																	2814399		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814399G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3870G>T	16.37:g.2814399G>T	ENSP00000301740:p.Gln1290His						p.Q1290H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4419	+			1290			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3870G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	4.301	0.055089	0.08291	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.34667	1.35	6.11	4.17	0.49024	.	0.101682	0.44285	D	0.000473	T	0.37732	0.1014	L	0.44542	1.39	0.09310	N	1	D	0.62365	0.991	P	0.51999	0.687	T	0.21109	-1.0255	10	0.62326	D	0.03	-5.8789	6.8965	0.24259	0.1529:0.1431:0.704:0.0	.	1290	Q9UQ35	SRRM2_HUMAN	H	1290;1290;542	ENSP00000301740:Q1290H	ENSP00000301740:Q1290H	Q	+	3	2	SRRM2	2754400	0.699000	0.27786	0.190000	0.23270	0.958000	0.62258	1.866000	0.39489	0.924000	0.37069	0.655000	0.94253	CAG		0.453	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			21	190	1	0	2.89027e-11	1	3.59474e-11	21	190				
ZNF81	347344	broad.mit.edu	37	X	47775287	47775287	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47775287C>T	ENST00000376954.1	+	6	1610	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	ZNF81_ENST00000338637.7_Silent_p.H414H			P51508	ZNF81_HUMAN	zinc finger protein 81	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGAGACATCACAAATGCAGTG	0.423																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1240-1242)caC>caT		zinc finger protein 81							50.0	48.0	48.0					X																	47775287		2195	4298	6493	SO:0001819	synonymous_variant	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775287C>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1242C>T	X.37:g.47775287C>T						ZNF81_ENST00000338637.7_Silent_p.H414H	p.H414H			P51508	ZNF81_HUMAN			6	1610	+		all_lung(315;0.0973)	414					Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	c.1242C>T	CCDS43933.1																																																																																				0.423	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		4	45	0	0	0	1	0	4	45				
CLMP	79827	broad.mit.edu	37	11	122953822	122953822	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122953822T>C	ENST00000448775.2	-	5	990	c.650A>G	c.(649-651)gAa>gGa	p.E217G	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	217	Ig-like C2-type 2.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CACACAGCTTTCCTTCCCAGC	0.443																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(649-651)gAa>gGa		CXADR-like membrane protein							164.0	141.0	149.0					11																	122953822		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122953822T>C	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.650A>G	11.37:g.122953822T>C	ENSP00000405577:p.Glu217Gly					CLMP_ENST00000530371.1_5'UTR	p.E217G	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			5	990	-			217			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000448775.2	37	c.650A>G	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240297	0.79912	.	.	ENSG00000166250	ENST00000448775	T	0.12255	2.7	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.093562	0.64402	D	0.000001	T	0.30070	0.0753	L	0.49513	1.565	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	T	0.00931	-1.1510	10	0.42905	T	0.14	.	14.0299	0.64609	0.0:0.0:0.0:1.0	.	217	Q9H6B4	CLMP_HUMAN	G	217	ENSP00000405577:E217G	ENSP00000405577:E217G	E	-	2	0	CLMP	122459032	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	6.785000	0.75089	2.060000	0.61445	0.460000	0.39030	GAA		0.443	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		54	77	0	0	0	1	0	54	77				
UNC5B	219699	broad.mit.edu	37	10	73058900	73058900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73058900C>T	ENST00000335350.6	+	17	3120	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P891S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	902	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAAAGCGAGCCCCACGGGTGT	0.607																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2704-2706)Ccc>Tcc		unc-5 homolog B (C. elegans)							146.0	152.0	150.0					10																	73058900		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73058900C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2704C>T	10.37:g.73058900C>T	ENSP00000334329:p.Pro902Ser					UNC5B_ENST00000373192.4_Missense_Mutation_p.P891S	p.P902S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			17	3120	+			902			Death.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2704C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228727	0.95173	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.54479	0.57;0.57	5.51	5.51	0.81932	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.79227	0.4410	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83359	0.0001	10	0.87932	D	0	-30.8034	19.4136	0.94685	0.0:1.0:0.0:0.0	.	891;902	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	S	902;891	ENSP00000334329:P902S;ENSP00000362288:P891S	ENSP00000334329:P902S	P	+	1	0	UNC5B	72728906	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.596000	0.87737	0.305000	0.20034	CCC		0.607	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	168	0	0	0	1	0	7	168				
HNF4G	3174	broad.mit.edu	37	8	76472629	76472629	+	Missense_Mutation	SNP	T	T	C	rs375963985		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76472629T>C	ENST00000354370.1	+	10	1303	c.1033T>C	c.(1033-1035)Tct>Cct	p.S345P	HNF4G_ENST00000396423.2_Missense_Mutation_p.S382P			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	345					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCACATTTGTCTCAAGACCC	0.393																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1144-1146)Tct>Cct		hepatocyte nuclear factor 4, gamma		T	PRO/SER	0,4406		0,0,2203	121.0	110.0	114.0		1144	4.9	1.0	8		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	HNF4G	NM_004133.4	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	382/446	76472629	1,13005	2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76472629T>C		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1033T>C	8.37:g.76472629T>C	ENSP00000346339:p.Ser345Pro					HNF4G_ENST00000354370.1_Missense_Mutation_p.S345P	p.S382P	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		9	1268	+	Breast(64;0.0448)		345					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.1144T>C		.	.	.	.	.	.	.	.	.	.	T	12.67	2.008044	0.35415	0.0	1.16E-4	ENSG00000164749	ENST00000354370;ENST00000396423	T;T	0.69806	-0.43;-0.43	4.86	4.86	0.63082	.	0.263218	0.45126	D	0.000393	T	0.55657	0.1934	L	0.44542	1.39	0.32329	N	0.561346	B;B	0.31435	0.001;0.323	B;B	0.27262	0.001;0.078	T	0.64829	-0.6315	10	0.37606	T	0.19	.	11.2912	0.49252	0.0:0.0:0.1952:0.8048	.	382;345	F1D8Q4;Q14541	.;HNF4G_HUMAN	P	345;382	ENSP00000346339:S345P;ENSP00000379701:S382P	ENSP00000346339:S345P	S	+	1	0	HNF4G	76635184	1.000000	0.71417	0.996000	0.52242	0.840000	0.47671	3.759000	0.55227	2.168000	0.68352	0.533000	0.62120	TCT		0.393	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		5	53	0	0	0	1	0	5	53				
TPTE	7179	broad.mit.edu	37	21	10933894	10933894	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10933894C>A	ENST00000361285.4	-	17	1314	c.985G>T	c.(985-987)Gat>Tat	p.D329Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.D311Y|TPTE_ENST00000342420.5_Missense_Mutation_p.D291Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	329	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D311N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCAAGATCTTGAGCCATC	0.318																																						ENST00000298232.7																			1	Substitution - Missense(1)	p.D311N(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(931-933)Gat>Tat		transmembrane phosphatase with tensin homology							247.0	248.0	248.0					21																	10933894		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933894C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.985G>T	21.37:g.10933894C>A	ENSP00000355208:p.Asp329Tyr					TPTE_ENST00000342420.5_Missense_Mutation_p.D291Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D329Y	p.D311Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1298	-			329			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.931G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.12	1.842434	0.32513	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29397	1.57;1.57;1.57	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.054070	0.64402	U	0.000001	T	0.64538	0.2607	H	0.96576	3.845	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79108	0.988;0.981;0.992	T	0.74429	-0.3668	10	0.87932	D	0	-25.6274	10.2257	0.43225	0.0:1.0:0.0:0.0	.	291;311;329	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	311;329;291	ENSP00000298232:D311Y;ENSP00000355208:D329Y;ENSP00000344441:D291Y	ENSP00000298232:D311Y	D	-	1	0	TPTE	9955765	1.000000	0.71417	0.803000	0.32268	0.487000	0.33371	2.354000	0.44098	1.470000	0.48102	0.194000	0.17425	GAT		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			63	329	1	0	6.72169e-28	1	8.9774e-28	63	329				
CABIN1	23523	broad.mit.edu	37	22	24439447	24439447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24439447G>A	ENST00000398319.2	+	6	812	c.427G>A	c.(427-429)Gct>Act	p.A143T	CABIN1_ENST00000263119.5_Missense_Mutation_p.A143T|CABIN1_ENST00000405822.2_Missense_Mutation_p.A143T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	143					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCCCCTGGCTCGCCATGC	0.542																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(427-429)Gct>Act		calcineurin binding protein 1							137.0	116.0	123.0					22																	24439447		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24439447G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.427G>A	22.37:g.24439447G>A	ENSP00000381364:p.Ala143Thr					CABIN1_ENST00000405822.2_Missense_Mutation_p.A143T|CABIN1_ENST00000263119.5_Missense_Mutation_p.A143T	p.A143T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			6	812	+			143					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.427G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388789	0.95988	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	D;T;T;D;T	0.90844	-2.74;-0.93;-0.93;-2.74;-0.93	5.21	5.21	0.72293	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050695	0.85682	D	0.000000	D	0.96414	0.8830	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.97110	1.0;0.998;0.995;0.996	D	0.97092	0.9791	10	0.87932	D	0	.	18.1901	0.89804	0.0:0.0:1.0:0.0	.	98;143;143;143	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	T	98;143;143;98;143;143	ENSP00000394209:A98T;ENSP00000263119:A143T;ENSP00000384694:A143T;ENSP00000412389:A98T;ENSP00000381364:A143T	ENSP00000263119:A143T	A	+	1	0	CABIN1	22769447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.729000	0.98795	2.630000	0.89119	0.558000	0.71614	GCT		0.542	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		17	27	0	0	0	1	0	17	27				
HECA	51696	broad.mit.edu	37	6	139487642	139487642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139487642A>G	ENST00000367658.2	+	2	778	c.493A>G	c.(493-495)Aca>Gca	p.T165A	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	165					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAACATGTGGACAAAGAAGGG	0.592																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(493-495)Aca>Gca		headcase homolog (Drosophila)							97.0	100.0	99.0					6																	139487642		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487642A>G	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.493A>G	6.37:g.139487642A>G	ENSP00000356630:p.Thr165Ala					RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	p.T165A	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	778	+			165						Missense_Mutation	SNP	ENST00000367658.2	37	c.493A>G	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975590	0.74360	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	L	0.61036	1.89	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.75578	-0.3269	9	0.87932	D	0	.	15.1929	0.73060	1.0:0.0:0.0:0.0	.	165	Q9UBI9	HDC_HUMAN	A	165	.	ENSP00000356630:T165A	T	+	1	0	HECA	139529335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.595000	0.90840	2.233000	0.73108	0.533000	0.62120	ACA		0.592	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		34	49	0	0	0	1	0	34	49				
SPAG9	9043	broad.mit.edu	37	17	49067917	49067917	+	Missense_Mutation	SNP	G	G	T	rs368035905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067917G>T	ENST00000262013.7	-	20	2719	c.2511C>A	c.(2509-2511)agC>agA	p.S837R	SPAG9_ENST00000510283.1_Missense_Mutation_p.S680R|SPAG9_ENST00000357122.4_Missense_Mutation_p.S823R|SPAG9_ENST00000505279.1_Missense_Mutation_p.S827R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	837					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTAACAGGCTGTCTGTCT	0.488																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2509-2511)agC>agA		sperm associated antigen 9							163.0	134.0	144.0					17																	49067917		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49067917G>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2511C>A	17.37:g.49067917G>T	ENSP00000262013:p.Ser837Arg					SPAG9_ENST00000505279.1_Missense_Mutation_p.S827R|SPAG9_ENST00000510283.1_Missense_Mutation_p.S680R|SPAG9_ENST00000357122.4_Missense_Mutation_p.S823R	p.S837R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		20	2719	-			837					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2511C>A	CCDS45740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.461352|2.461352	0.43736|0.43736	.|.	.|.	ENSG00000008294|ENSG00000008294	ENST00000513906|ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	.|T;T;T;T	.|0.25085	.|1.82;1.82;1.82;1.82	5.9|5.9	0.685|0.685	0.18009|0.18009	.|WD40 repeat-like-containing domain (1);	.|0.119866	.|0.85682	.|D	.|0.000000	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.50333|0.50333	1.59|1.59	0.26451|0.26451	N|N	0.975608|0.975608	.|D;D;P;P;P;B	.|0.61697	.|0.99;0.957;0.948;0.57;0.692;0.046	.|P;P;P;B;B;B	.|0.57548	.|0.779;0.823;0.726;0.317;0.446;0.022	T|T	0.17930|0.17930	-1.0353|-1.0353	5|10	.|0.35671	.|T	.|0.21	-14.5149|-14.5149	11.5035|11.5035	0.50451|0.50451	0.3778:0.0:0.6222:0.0|0.3778:0.0:0.6222:0.0	.|.	.|823;837;827;837;823;680	.|O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.|.;.;.;JIP4_HUMAN;.;.	D|R	96|837;594;584;374;680;827;823;435	.|ENSP00000262013:S837R;ENSP00000423165:S680R;ENSP00000426900:S827R;ENSP00000349636:S823R	.|ENSP00000262013:S837R	A|S	-|-	2|3	0|2	SPAG9|SPAG9	46422916|46422916	0.845000|0.845000	0.29573|0.29573	0.990000|0.990000	0.47175|0.47175	0.967000|0.967000	0.64934|0.64934	0.533000|0.533000	0.23082|0.23082	0.274000|0.274000	0.22072|0.22072	-0.143000|-0.143000	0.13931|0.13931	GCC|AGC		0.488	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		29	33	1	0	1.5548e-18	1	2.02858e-18	29	33				
GPN1	11321	broad.mit.edu	37	2	27861839	27861839	+	Missense_Mutation	SNP	G	G	A	rs530882757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861839G>A	ENST00000610189.1	+	9	665	c.658G>A	c.(658-660)Gtc>Atc	p.V220I	GPN1_ENST00000424214.1_Missense_Mutation_p.V141I|GPN1_ENST00000264718.3_Missense_Mutation_p.V234I|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000503738.1_Missense_Mutation_p.V125I|GPN1_ENST00000458167.2_Missense_Mutation_p.V125I|GPN1_ENST00000407583.3_Missense_Mutation_p.V208I|GPN1_ENST00000515877.1_Missense_Mutation_p.V141I	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						GACTACATACGTCAGTAACCT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.001					ENST00000264718.3																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.(700-702)Gtc>Atc		GPN-loop GTPase 1							109.0	98.0	102.0					2																	27861839		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861839G>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.658G>A	2.37:g.27861839G>A	ENSP00000476446:p.Val220Ile					GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.V125I|GPN1_ENST00000515877.1_Missense_Mutation_p.V141I|GPN1_ENST00000424214.1_Missense_Mutation_p.V141I|GPN1_ENST00000503738.1_Missense_Mutation_p.V125I|GPN1_ENST00000407583.3_Missense_Mutation_p.V208I	p.V234I	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN			9	721	+			220						Missense_Mutation	SNP	ENST00000610189.1	37	c.700G>A		.	.	.	.	.	.	.	.	.	.	G	12.83	2.055537	0.36277	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.85	4.07	0.47477	.	0.181275	0.49305	N	0.000150	T	0.08891	0.0220	N	0.03050	-0.425	0.38234	D	0.941116	B;B;B;B	0.21520	0.004;0.02;0.048;0.057	B;B;B;B	0.21708	0.021;0.024;0.031;0.036	T	0.20706	-1.0267	10	0.26408	T	0.33	-19.4529	9.9047	0.41368	0.1577:0.0:0.8423:0.0	.	220;234;125;208	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	I	141;125;125;141;208;234	ENSP00000424678:V141I;ENSP00000427269:V125I;ENSP00000412170:V125I;ENSP00000398115:V141I;ENSP00000384255:V208I;ENSP00000264718:V234I	ENSP00000264718:V234I	V	+	1	0	GPN1	27715343	1.000000	0.71417	0.883000	0.34634	0.958000	0.62258	6.081000	0.71309	0.834000	0.34852	-0.140000	0.14226	GTC		0.458	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		33	37	0	0	0	1	0	33	37				
PDCD11	22984	broad.mit.edu	37	10	105160228	105160228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105160228C>T	ENST00000369797.3	+	3	271	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	59					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTTGAAAATCGAAAAGAGAG	0.418																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(175-177)atC>atT		programmed cell death 11							105.0	117.0	113.0					10																	105160228		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105160228C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.177C>T	10.37:g.105160228C>T							p.I59I	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	3	271	+		Colorectal(252;0.0747)|Breast(234;0.128)	59					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.177C>T	CCDS31276.1																																																																																				0.418	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			28	59	0	0	0	1	0	28	59				
HIVEP1	3096	broad.mit.edu	37	6	12164453	12164453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12164453C>T	ENST00000379388.2	+	9	8248	c.7916C>T	c.(7915-7917)gCc>gTc	p.A2639V	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A504V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2639					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAAGGCTGCCTCGGCAAAT	0.517																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(7915-7917)gCc>gTc		human immunodeficiency virus type I enhancer binding protein 1							49.0	57.0	54.0					6																	12164453		2133	4247	6380	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164453C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7916C>T	6.37:g.12164453C>T	ENSP00000368698:p.Ala2639Val					HIVEP1_ENST00000541134.1_Missense_Mutation_p.A504V	p.A2639V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			9	8248	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2639					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7916C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383544	0.82792	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.33216	2.92;1.42	4.98	1.83	0.25207	.	0.225722	0.22684	N	0.056919	T	0.06917	0.0176	L	0.40543	1.245	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	T	0.18366	-1.0339	10	0.46703	T	0.11	-2.4573	2.7321	0.05230	0.4059:0.3805:0.1137:0.0998	.	2639	P15822	ZEP1_HUMAN	V	2639;504;621	ENSP00000368698:A2639V;ENSP00000445617:A504V	ENSP00000368698:A2639V	A	+	2	0	HIVEP1	12272439	0.172000	0.23043	0.001000	0.08648	0.889000	0.51656	1.575000	0.36493	0.515000	0.28320	0.585000	0.79938	GCC		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		8	19	0	0	0	1	0	8	19				
ZNF507	22847	broad.mit.edu	37	19	32844172	32844172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844172C>T	ENST00000311921.4	+	2	628	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.Q146*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.Q146*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCATATTAAGCAACATGGTCA	0.418																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(436-438)Caa>Taa		zinc finger protein 507							100.0	88.0	92.0					19																	32844172		2203	4300	6503	SO:0001587	stop_gained	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844172C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.436C>T	19.37:g.32844172C>T	ENSP00000312277:p.Gln146*					ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.Q146*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.Q146*	p.Q146*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	628	+	Esophageal squamous(110;0.162)		146					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	ENST00000311921.4	37	c.436C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	37	6.284580	0.97440	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	6.06	6.06	0.98353	.	0.189124	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.3571	0.74434	0.1395:0.8605:0.0:0.0	.	.	.	.	X	146	.	ENSP00000312277:Q146X	Q	+	1	0	ZNF507	37536012	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.507000	0.60434	2.871000	0.98454	0.655000	0.94253	CAA		0.418	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		19	30	0	0	0	1	0	19	30				
SNX19	399979	broad.mit.edu	37	11	130785540	130785540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785540C>A	ENST00000265909.4	-	1	864	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Nonsense_Mutation_p.E99*	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	99	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATCTCCCGTTCCAGCTGCCTT	0.557																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(295-297)Gaa>Taa		sorting nexin 19							84.0	60.0	68.0					11																	130785540		2201	4297	6498	SO:0001587	stop_gained	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785540C>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.295G>T	11.37:g.130785540C>A	ENSP00000265909:p.Glu99*					SNX19_ENST00000533214.1_Nonsense_Mutation_p.E99*|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	p.E99*	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	864	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	99			PXA.		E9PKB9|Q8IV55	Nonsense_Mutation	SNP	ENST00000265909.4	37	c.295G>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	41	8.961080	0.99018	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	.	.	.	4.63	4.63	0.57726	.	0.217711	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-10.1584	14.1461	0.65351	0.0:0.8488:0.1512:0.0	.	.	.	.	X	99	.	ENSP00000265909:E99X	E	-	1	0	SNX19	130290750	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.830000	0.48136	2.385000	0.81259	0.455000	0.32223	GAA		0.557	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		4	52	1	0	3.59834e-05	1	4.01776e-05	4	52				
FSCN1	6624	broad.mit.edu	37	7	5645040	5645040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5645040G>A	ENST00000382361.3	+	5	1531	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	FSCN1_ENST00000340250.6_Missense_Mutation_p.D452N	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	473					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCTGAAGGGCGACCACGCAGG	0.667																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1417-1419)Gac>Aac		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							47.0	41.0	43.0					7																	5645040		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5645040G>A	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1417G>A	7.37:g.5645040G>A	ENSP00000371798:p.Asp473Asn					FSCN1_ENST00000340250.6_Missense_Mutation_p.D452N	p.D473N	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	5	1531	+		Ovarian(82;0.0694)	473					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1417G>A	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992873	0.74703	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.45276	0.9;0.9	3.83	3.83	0.44106	Fascin domain (1);Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.71560	-0.4556	10	0.87932	D	0	0.0151	15.0633	0.71973	0.0:0.0:1.0:0.0	.	473	Q16658	FSCN1_HUMAN	N	452;473;195	ENSP00000339729:D452N;ENSP00000371798:D473N	ENSP00000339729:D452N	D	+	1	0	FSCN1	5611566	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	9.308000	0.96247	1.834000	0.53371	0.555000	0.69702	GAC		0.667	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		16	9	0	0	0	1	0	16	9				
COL12A1	1303	broad.mit.edu	37	6	75875447	75875447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75875447G>A	ENST00000322507.8	-	14	3068	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.S920L|COL12A1_ENST00000416123.2_Missense_Mutation_p.S920L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	920	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S920L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCCCCAATTGATGTGTCAGT	0.378																																						ENST00000322507.8																			1	Substitution - Missense(1)	p.S920L(1)	lung(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2758-2760)tCa>tTa		collagen, type XII, alpha 1							102.0	94.0	97.0					6																	75875447		1864	4109	5973	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75875447G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2759C>T	6.37:g.75875447G>A	ENSP00000325146:p.Ser920Leu					COL12A1_ENST00000416123.2_Missense_Mutation_p.S920L|COL12A1_ENST00000483888.2_Missense_Mutation_p.S920L|COL12A1_ENST00000345356.6_Intron	p.S920L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			14	3068	-			920			Fibronectin type-III 6.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2759C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033988	0.75504	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.63417	-0.04;-0.04;-0.04	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.123814	0.33290	N	0.005070	T	0.65863	0.2732	M	0.80422	2.495	0.40981	D	0.984774	P	0.36110	0.537	B	0.43018	0.405	T	0.72724	-0.4207	10	0.87932	D	0	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	920	Q99715	COCA1_HUMAN	L	920	ENSP00000325146:S920L;ENSP00000412864:S920L;ENSP00000421216:S920L	ENSP00000325146:S920L	S	-	2	0	COL12A1	75932167	1.000000	0.71417	0.988000	0.46212	0.864000	0.49448	6.707000	0.74654	2.469000	0.83416	0.563000	0.77884	TCA		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	73	0	0	0	1	0	15	73				
OXR1	55074	broad.mit.edu	37	8	107722882	107722882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107722882C>T	ENST00000442977.2	+	9	1759	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	OXR1_ENST00000517566.2_Nonsense_Mutation_p.R553*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.R553*|OXR1_ENST00000452423.2_Nonsense_Mutation_p.R43*|OXR1_ENST00000445937.1_Nonsense_Mutation_p.R553*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.R546*	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	554	Mediates oxidative antimutator activity.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAGGCATCGATTACATAA	0.358																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1657-1659)Cga>Tga		oxidation resistance 1							101.0	97.0	98.0					8																	107722882		2203	4300	6503	SO:0001587	stop_gained	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722882C>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1660C>T	8.37:g.107722882C>T	ENSP00000405424:p.Arg554*					OXR1_ENST00000312046.6_Nonsense_Mutation_p.R546*|OXR1_ENST00000452423.2_Nonsense_Mutation_p.R43*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.R554*|OXR1_ENST00000517566.2_Nonsense_Mutation_p.R553*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.R553*	p.R553*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		10	1918	+			554					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Nonsense_Mutation	SNP	ENST00000442977.2	37	c.1657C>T	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	37	6.170256	0.97343	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046	.	.	.	5.73	4.85	0.62838	.	0.227182	0.36815	N	0.002397	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0849	15.0629	0.71970	0.258:0.742:0.0:0.0	.	.	.	.	X	553;553;553;43;554;546	.	ENSP00000311026:R546X	R	+	1	2	OXR1	107792058	1.000000	0.71417	0.989000	0.46669	0.341000	0.28922	1.471000	0.35365	1.392000	0.46585	0.563000	0.77884	CGA		0.358	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		6	49	0	0	0	1	0	6	49				
HEPHL1	341208	broad.mit.edu	37	11	93821949	93821949	+	Missense_Mutation	SNP	G	G	A	rs200886564	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93821949G>A	ENST00000315765.9	+	12	2117	c.2109G>A	c.(2107-2109)atG>atA	p.M703I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	703	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGCCACCATGCCCCACCTCT	0.483																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2107-2109)atG>atA		hephaestin-like 1							44.0	44.0	44.0					11																	93821949		1932	4140	6072	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93821949G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2109G>A	11.37:g.93821949G>A	ENSP00000313699:p.Met703Ile						p.M703I	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			12	2117	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	703			Plastocyanin-like 4.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2109G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	3.092	-0.186574	0.06340	.	.	ENSG00000181333	ENST00000315765	D	0.99741	-6.6	5.53	3.61	0.41365	Cupredoxin (2);	0.681722	0.14855	N	0.294441	D	0.98030	0.9351	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.96187	0.9135	10	0.36615	T	0.2	.	2.9004	0.05703	0.1462:0.1056:0.5019:0.2463	.	703	Q6MZM0	HPHL1_HUMAN	I	703	ENSP00000313699:M703I	ENSP00000313699:M703I	M	+	3	0	HEPHL1	93461597	0.484000	0.25964	0.965000	0.40720	0.248000	0.25809	0.453000	0.21811	1.306000	0.44926	0.455000	0.32223	ATG		0.483	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		10	24	0	0	0	1	0	10	24				
TSC22D4	81628	broad.mit.edu	37	7	100071955	100071955	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100071955A>C	ENST00000300181.2	-	3	1625	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.F52V	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	291					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGGCTGAACTTCTGAGCT	0.597																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(871-873)Ttc>Gtc		TSC22 domain family, member 4							105.0	84.0	91.0					7																	100071955		2203	4300	6503	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100071955A>C	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.871T>G	7.37:g.100071955A>C	ENSP00000300181:p.Phe291Val					TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.F52V	p.F291V	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			3	1625	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		291					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.871T>G	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216088	0.39201	.	.	ENSG00000166925	ENST00000300181;ENST00000393991	.	.	.	4.75	1.87	0.25490	.	0.433086	0.16460	N	0.213463	T	0.15262	0.0368	N	0.08118	0	0.22639	N	0.998908	B;B	0.15930	0.015;0.009	B;B	0.17098	0.017;0.005	T	0.30736	-0.9968	9	0.10902	T	0.67	-10.5989	6.7782	0.23630	0.3229:0.0:0.6771:0.0	.	291;291	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	V	291;52	.	ENSP00000300181:F291V	F	-	1	0	TSC22D4	99909891	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	0.658000	0.24979	0.431000	0.26258	-0.375000	0.07067	TTC		0.597	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		52	39	0	0	0	1	0	52	39				
LRFN4	78999	broad.mit.edu	37	11	66626433	66626433	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626433G>T	ENST00000309602.4	+	1	1461	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	406	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						TGGAGTCTGAGCCAGCCGTGC	0.701																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1216-1218)gaG>gaT		leucine rich repeat and fibronectin type III domain containing 4							23.0	27.0	25.0					11																	66626433		2192	4271	6463	SO:0001583	missense	78999					integral to membrane		g.chr11:66626433G>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1218G>T	11.37:g.66626433G>T	ENSP00000312535:p.Glu406Asp					PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron	p.E406D	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	1461	+			406					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1218G>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	4.762	0.141620	0.09083	.	.	ENSG00000173621	ENST00000309602;ENST00000525479	T	0.50001	0.76	4.33	2.23	0.28157	Fibronectin, type III (2);	0.130684	0.34828	N	0.003652	T	0.22475	0.0542	N	0.11756	0.17	0.34416	D	0.696947	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.16778	-1.0391	10	0.11794	T	0.64	.	5.4319	0.16458	0.3076:0.0:0.6924:0.0	.	406;406	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	D	406	ENSP00000312535:E406D	ENSP00000312535:E406D	E	+	3	2	LRFN4	66383009	0.012000	0.17670	0.860000	0.33809	0.610000	0.37248	0.197000	0.17197	0.334000	0.23590	0.462000	0.41574	GAG		0.701	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		4	36	1	0	0.014758	1	0.0152625	4	36				
LATS1	9113	broad.mit.edu	37	6	150005294	150005294	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150005294T>C	ENST00000543571.1	-	4	1478	c.931A>G	c.(931-933)Aat>Gat	p.N311D	LATS1_ENST00000392273.3_Missense_Mutation_p.N311D|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.N311D	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAGGAGGATTCATGGGGGAA	0.483																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(931-933)Aat>Gat		large tumor suppressor kinase 1							131.0	127.0	128.0					6																	150005294		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005294T>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.931A>G	6.37:g.150005294T>C	ENSP00000437550:p.Asn311Asp					LATS1_ENST00000253339.5_Missense_Mutation_p.N311D|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.N311D	p.N311D	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1478	-		Ovarian(120;0.0164)	311						Missense_Mutation	SNP	ENST00000543571.1	37	c.931A>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057434	0.55325	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.52295	0.67;0.67;3.24	5.17	5.17	0.71159	.	0.110120	0.40469	N	0.001086	T	0.52008	0.1708	L	0.50333	1.59	0.39423	D	0.966954	B;B;D	0.63880	0.247;0.361;0.993	B;B;D	0.68192	0.091;0.187;0.956	T	0.52465	-0.8572	9	.	.	.	.	14.993	0.71406	0.0:0.0:0.0:1.0	.	163;311;311	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	D	311	ENSP00000437550:N311D;ENSP00000253339:N311D;ENSP00000444678:N311D	.	N	-	1	0	LATS1	150046987	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.041000	0.64196	1.956000	0.56807	0.533000	0.62120	AAT		0.483	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		9	111	0	0	0	1	0	9	111				
SNX13	23161	broad.mit.edu	37	7	17836527	17836527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17836527G>T	ENST00000409389.1	-	25	2754	c.2582C>A	c.(2581-2583)gCt>gAt	p.A861D	SNX13_ENST00000428135.3_Missense_Mutation_p.A850D|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	861					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCATGGAACAGCCTCTGCTAA	0.323																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2581-2583)gCt>gAt		sorting nexin 13							178.0	163.0	168.0					7																	17836527		1821	4087	5908	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17836527G>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2582C>A	7.37:g.17836527G>T	ENSP00000386705:p.Ala861Asp					SNX13_ENST00000428135.3_Missense_Mutation_p.A850D|SNX13_ENST00000496855.1_5'UTR	p.A861D			Q9Y5W8	SNX13_HUMAN			25	2754	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		861					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2582C>A		.	.	.	.	.	.	.	.	.	.	G	15.18	2.758234	0.49468	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.30981	1.51;1.51	5.41	3.52	0.40303	.	0.402818	0.31612	N	0.007347	T	0.24005	0.0581	L	0.35854	1.095	0.80722	D	1	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.14023	0.004;0.01;0.004	T	0.03374	-1.1043	10	0.29301	T	0.29	-0.1803	12.0223	0.53350	0.0:0.1319:0.7309:0.1373	.	647;861;850	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	D	861;850;898	ENSP00000386705:A861D;ENSP00000398789:A850D	ENSP00000242044:A898D	A	-	2	0	SNX13	17803052	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	4.410000	0.59774	0.586000	0.29626	0.557000	0.71058	GCT		0.323	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		9	126	1	0	3.86212e-05	1	4.30401e-05	9	126				
RNF10	9921	broad.mit.edu	37	12	120995185	120995185	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995185T>C	ENST00000325954.4	+	5	1207	c.746T>C	c.(745-747)aTc>aCc	p.I249T	RNF10_ENST00000413266.2_Missense_Mutation_p.I249T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	249					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGCATGCATCCTGCACTAT	0.468																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(745-747)aTc>aCc		ring finger protein 10							222.0	187.0	199.0					12																	120995185		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995185T>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.746T>C	12.37:g.120995185T>C	ENSP00000322242:p.Ile249Thr					RNF10_ENST00000413266.2_Missense_Mutation_p.I249T	p.I249T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			5	1207	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		249					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.746T>C	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.615616|4.615616	0.87359|0.87359	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266|ENST00000542207;ENST00000541955	T;T|.	0.80653|.	-1.4;-1.4|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.092711|.	0.85682|.	D|.	0.000000|.	D|D	0.86764|0.86764	0.6011|0.6011	H|H	0.94925|0.94925	3.6|3.6	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.48589|.	0.893;0.912|.	B;P|.	0.48982|.	0.382;0.597|.	D|D	0.90529|0.90529	0.4494|0.4494	10|5	0.87932|.	D|.	0|.	.|.	15.9147|15.9147	0.79503|0.79503	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	249;249|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	T|P	249|47;42	ENSP00000322242:I249T;ENSP00000415682:I249T|.	ENSP00000322242:I249T|.	I|S	+|+	2|1	0|0	RNF10|RNF10	119479568|119479568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.997000|7.997000	0.88414|0.88414	2.227000|2.227000	0.72691|0.72691	0.460000|0.460000	0.39030|0.39030	ATC|TCC		0.468	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			9	125	0	0	0	1	0	9	125				
SMC1B	27127	broad.mit.edu	37	22	45768173	45768173	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45768173C>A	ENST00000357450.4	-	13	2058		c.e13-1		SMC1B_ENST00000404354.3_Splice_Site	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B						meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATTAAACCCTAAAAGGAAA	0.318																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.e13-1		structural maintenance of chromosomes 1B							131.0	113.0	118.0					22																	45768173		1810	4069	5879	SO:0001630	splice_region_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45768173C>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2059-1G>T	22.37:g.45768173C>A						SMC1B_ENST00000404354.3_Splice_Site		NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	2058	-		Ovarian(80;0.00965)|all_neural(38;0.0416)						A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Splice_Site	SNP	ENST00000357450.4	37		CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341445	0.60963	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	5.25	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.062	0.59012	0.1614:0.8386:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMC1B	44146837	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	4.697000	0.61782	1.158000	0.42547	0.655000	0.94253	.		0.318	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	Intron	21	17	1	0	1.40151e-16	1	1.80976e-16	21	17				
PALB2	79728	broad.mit.edu	37	16	23646985	23646985	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646985T>A	ENST00000261584.4	-	4	1034	c.882A>T	c.(880-882)aaA>aaT	p.K294N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	294	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGTCATTTTTTTGCCTTGTG	0.368			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(880-882)aaA>aaT	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							87.0	88.0	88.0					16																	23646985		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646985T>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.882A>T	16.37:g.23646985T>A	ENSP00000261584:p.Lys294Asn						p.K294N	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1034	-			294			Interaction with BRCA1.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.882A>T	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235524	0.58886	.	.	ENSG00000083093	ENST00000261584	T	0.18338	2.22	6.08	3.82	0.43975	.	0.846372	0.10789	N	0.633976	T	0.22936	0.0554	L	0.54323	1.7	0.09310	N	1	D	0.53462	0.96	P	0.48795	0.59	T	0.14980	-1.0453	10	0.72032	D	0.01	-2.9237	6.1773	0.20451	0.0:0.0815:0.1625:0.756	.	294	Q86YC2	PALB2_HUMAN	N	294	ENSP00000261584:K294N	ENSP00000261584:K294N	K	-	3	2	PALB2	23554486	0.135000	0.22499	0.003000	0.11579	0.023000	0.10783	0.799000	0.27028	0.532000	0.28657	0.533000	0.62120	AAA		0.368	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		9	119	0	0	0	1	0	9	119				
TTN	7273	broad.mit.edu	37	2	179605020	179605020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179605020C>T	ENST00000591111.1	-	46	12213	c.11989G>A	c.(11989-11991)Gca>Aca	p.A3997T	TTN_ENST00000460472.2_Missense_Mutation_p.A3951T|TTN_ENST00000359218.5_Missense_Mutation_p.A4076T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A4314T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4143T			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGCCCTGCATTTTCCAGT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12940-12942)Gca>Aca		titin							82.0	82.0	82.0					2																	179605020		1900	4116	6016	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605020C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11989G>A	2.37:g.179605020C>T	ENSP00000465570:p.Ala3997Thr					TTN_ENST00000460472.2_Missense_Mutation_p.A3951T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.A4076T|TTN_ENST00000342175.6_Missense_Mutation_p.A4143T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A3997T	p.A4314T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13164	-			3997			Ig-like 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12940G>A		.	.	.	.	.	.	.	.	.	.	C	5.628	0.300653	0.10678	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61742	0.08;0.11;0.1	5.92	-0.703	0.11261	.	.	.	.	.	T	0.32556	0.0833	N	0.05124	-0.11	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23476	-1.0187	9	0.87932	D	0	.	7.2361	0.26070	0.0:0.4031:0.1128:0.4841	.	3951;4076;4143	D3DPF9;E7EQE6;E7ET18	.;.;.	T	3951;4143;4076;3951	ENSP00000434586:A3951T;ENSP00000340554:A4143T;ENSP00000352154:A4076T	ENSP00000340554:A4143T	A	-	1	0	TTN	179313265	0.090000	0.21635	0.013000	0.15412	0.096000	0.18686	0.428000	0.21395	-0.161000	0.10983	0.655000	0.94253	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	46	0	0	0	1	0	44	46				
CLCA3P	9629	broad.mit.edu	37	1	87101749	87101749	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87101749C>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							CTCCAAACTTCTTGTTGACTA	0.358																																						ENST00000456587.1																			0																				123.0	122.0	122.0					1																	87101749		2203	4300	6503			0							g.chr1:87101749C>A																													1.37:g.87101749C>A						CLCA3P_ENST00000466454.1_RNA								0	294	-									RNA	SNP	ENST00000456587.1	37																																																																																						0.358	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000028263.1			46	107	1	0	2.65591e-33	1	3.56669e-33	46	107				
FBXO40	51725	broad.mit.edu	37	3	121341567	121341567	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121341567T>A	ENST00000338040.4	+	3	1705	c.1291T>A	c.(1291-1293)Tac>Aac	p.Y431N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	431					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CACACAAACATACAACTTTGA	0.527																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1291-1293)Tac>Aac		F-box protein 40							99.0	100.0	100.0					3																	121341567		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341567T>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1291T>A	3.37:g.121341567T>A	ENSP00000337510:p.Tyr431Asn						p.Y431N	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1705	+			431					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1291T>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242832	0.58995	.	.	ENSG00000163833	ENST00000338040	T	0.52057	0.68	5.73	5.73	0.89815	.	0.057651	0.64402	D	0.000001	T	0.66761	0.2822	M	0.66939	2.045	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.70077	-0.4971	10	0.87932	D	0	-22.8694	13.985	0.64328	0.0:0.0:0.0:1.0	.	431	Q9UH90	FBX40_HUMAN	N	431	ENSP00000337510:Y431N	ENSP00000337510:Y431N	Y	+	1	0	FBXO40	122824257	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	5.961000	0.70356	2.197000	0.70478	0.533000	0.62120	TAC		0.527	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		51	64	0	0	0	1	0	51	64				
PTGER4	5734	broad.mit.edu	37	5	40681276	40681276	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681276C>T	ENST00000302472.3	+	2	1205	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	61					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GGTATGTGGGCTGGCTGTCAC	0.622											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(181-183)Ctg>Ttg		prostaglandin E receptor 4 (subtype EP4)							71.0	60.0	64.0					5																	40681276		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681276C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.181C>T	5.37:g.40681276C>T			OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895	PTGER4_ENST00000514343.1_3'UTR	p.L61L	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1205	+			61					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.181C>T	CCDS3930.1																																																																																				0.622	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		4	63	0	0	0	1	0	4	63				
VPS41	27072	broad.mit.edu	37	7	38902182	38902182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38902182A>G	ENST00000310301.4	-	4	263	c.209T>C	c.(208-210)cTt>cCt	p.L70P	VPS41_ENST00000395969.2_Missense_Mutation_p.L70P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	70					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTGGACATCAAGTAAATAAAC	0.308																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(208-210)cTt>cCt		vacuolar protein sorting 41 homolog (S. cerevisiae)							82.0	83.0	83.0					7																	38902182		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38902182A>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.209T>C	7.37:g.38902182A>G	ENSP00000309457:p.Leu70Pro					VPS41_ENST00000395969.2_Missense_Mutation_p.L70P	p.L70P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			4	263	-			70					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.209T>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487099	0.63962	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T	0.56611	2.2;2.19;3.22;0.45;2.19	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.82172	-0.0589	10	0.56958	D	0.05	-17.4328	15.8331	0.78773	1.0:0.0:0.0:0.0	.	70;70;70	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	P	70;70;57;20;20	ENSP00000309457:L70P;ENSP00000379297:L70P;ENSP00000411919:L57P;ENSP00000407835:L20P;ENSP00000398584:L20P	ENSP00000265745:L70P	L	-	2	0	VPS41	38868707	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.721000	0.91446	2.133000	0.65898	0.477000	0.44152	CTT		0.308	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			8	74	0	0	0	1	0	8	74				
ZNF598	90850	broad.mit.edu	37	16	2048278	2048278	+	Silent	SNP	G	G	A	rs201746693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2048278G>A	ENST00000563630.1	-	12	2747	c.2505C>T	c.(2503-2505)gaC>gaT	p.D835D	ZNF598_ENST00000431526.1_Silent_p.D890D|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.D835D			Q86UK7	ZN598_HUMAN	zinc finger protein 598	890							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAAGTCGTCGTCCCGGGCAG	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16387	0.0		0.0	False		,,,				2504	0.0					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(2503-2505)gaC>gaT		zinc finger protein 598		G		0,4294		0,0,2147	80.0	93.0	88.0		2672	0.3	1.0	16		88	3,8465		0,3,4231	no	coding-synonymous	ZNF598	NM_178167.2		0,3,6378	AA,AG,GG		0.0354,0.0,0.0235		890/905	2048278	3,12759	2147	4234	6381	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2048278G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2505C>T	16.37:g.2048278G>A						ZNF598_ENST00000562103.1_Silent_p.D835D|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.D890D	p.D835D			Q86UK7	ZN598_HUMAN			12	2747	-			890					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.2505C>T																																																																																					0.687	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		30	120	0	0	0	1	0	30	120				
CENPH	64946	broad.mit.edu	37	5	68490518	68490518	+	Missense_Mutation	SNP	G	G	A	rs200925138		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68490518G>A	ENST00000283006.2	+	3	322	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	CENPH_ENST00000515001.1_Missense_Mutation_p.E79K	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAGCAAATCGAAGCGTATGT	0.279													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.0					ENST00000283006.2																			0				kidney(15)|large_intestine(2)|lung(3)	20						c.(235-237)Gaa>Aaa		centromere protein H		G	LYS/GLU	2,4400	4.2+/-10.8	0,2,2199	40.0	44.0	43.0		235	2.1	0.9	5		43	0,8600		0,0,4300	no	missense	CENPH	NM_022909.3	56	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	benign	79/248	68490518	2,13000	2201	4300	6501	SO:0001583	missense	64946				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding	g.chr5:68490518G>A	AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.235G>A	5.37:g.68490518G>A	ENSP00000283006:p.Glu79Lys					CENPH_ENST00000515001.1_Missense_Mutation_p.E79K	p.E79K	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)	3	322	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	79						Missense_Mutation	SNP	ENST00000283006.2	37	c.235G>A	CCDS3998.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	14.78|14.78	2.638026|2.638026	0.47153|0.47153	4.54E-4|4.54E-4	0.0|0.0	ENSG00000153044|ENSG00000153044	ENST00000283006;ENST00000515001|ENST00000502689	T;T|.	0.58940|.	0.3;0.3|.	5.01|5.01	2.09|2.09	0.27110|0.27110	.|.	0.092595|.	0.46758|.	D|.	0.000269|.	T|T	0.41396|0.41396	0.1157|0.1157	L|L	0.32530|0.32530	0.975|0.975	0.40763|0.40763	D|D	0.983026|0.983026	P;B|.	0.47302|.	0.893;0.033|.	B;B|.	0.35312|.	0.2;0.008|.	T|T	0.18116|0.18116	-1.0347|-1.0347	10|5	0.59425|.	D|.	0.04|.	-29.0402|-29.0402	4.868|4.868	0.13618|0.13618	0.1896:0.1755:0.6349:0.0|0.1896:0.1755:0.6349:0.0	.|.	79;79|.	B3KVZ3;Q9H3R5|.	.;CENPH_HUMAN|.	K|Q	79|43	ENSP00000283006:E79K;ENSP00000426014:E79K|.	ENSP00000283006:E79K|.	E|R	+|+	1|2	0|0	CENPH|CENPH	68526274|68526274	0.998000|0.998000	0.40836|0.40836	0.915000|0.915000	0.36163|0.36163	0.828000|0.828000	0.46876|0.46876	1.345000|1.345000	0.33953|0.33953	0.823000|0.823000	0.34589|0.34589	-0.150000|-0.150000	0.13652|0.13652	GAA|CGA		0.279	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			16	23	0	0	0	1	0	16	23				
PHRF1	57661	broad.mit.edu	37	11	608259	608259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608259C>T	ENST00000264555.5	+	14	2931	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	PHRF1_ENST00000416188.2_Missense_Mutation_p.P934S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P933S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P931S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	935					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTGCGGAGGCCATCCCCCCC	0.682																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2803-2805)Cca>Tca		PHD and ring finger domains 1							15.0	19.0	17.0					11																	608259		1939	4091	6030	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608259C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2803C>T	11.37:g.608259C>T	ENSP00000264555:p.Pro935Ser					PHRF1_ENST00000416188.2_Missense_Mutation_p.P934S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P931S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P933S	p.P935S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2931	+			935					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2803C>T		.	.	.	.	.	.	.	.	.	.	C	0.738	-0.777418	0.02929	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78364	-1.16;-1.16;-1.17;-1.17	3.89	0.953	0.19590	.	0.414440	0.17819	N	0.160939	T	0.57460	0.2055	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.15930	0.008;0.015;0.015;0.008	B;B;B;B	0.16289	0.007;0.015;0.015;0.007	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.394	3.7691	0.08635	0.0:0.5635:0.2051:0.2313	.	931;933;934;935	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	935;933;934;931	ENSP00000264555:P935S;ENSP00000388589:P933S;ENSP00000410626:P934S;ENSP00000431870:P931S	ENSP00000264555:P935S	P	+	1	0	PHRF1	598259	0.000000	0.05858	0.008000	0.14137	0.060000	0.15804	0.262000	0.18460	0.025000	0.15241	0.555000	0.69702	CCA		0.682	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		10	12	0	0	0	1	0	10	12				
TECTA	7007	broad.mit.edu	37	11	121033015	121033015	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121033015C>A	ENST00000392793.1	+	16	5479	c.5208C>A	c.(5206-5208)gcC>gcA	p.A1736A	TECTA_ENST00000264037.2_Silent_p.A1736A			O75443	TECTA_HUMAN	tectorin alpha	1736					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCTGGCCGCCTACGGGGAGG	0.537																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(5206-5208)gcC>gcA		tectorin alpha							26.0	28.0	28.0					11																	121033015		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121033015C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5208C>A	11.37:g.121033015C>A						TECTA_ENST00000264037.2_Silent_p.A1736A	p.A1736A			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	16	5479	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1736						Silent	SNP	ENST00000392793.1	37	c.5208C>A	CCDS8434.1																																																																																				0.537	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		6	26	1	0	0.0293803	1	0.0301098	6	26				
SACS	26278	broad.mit.edu	37	13	23906959	23906959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23906959G>A	ENST00000382292.3	-	9	11329	c.11056C>T	c.(11056-11058)Cag>Tag	p.Q3686*	SACS_ENST00000402364.1_Nonsense_Mutation_p.Q2936*|SACS_ENST00000382298.3_Nonsense_Mutation_p.Q3686*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3686					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGATTTACCTGTGCTCCATTG	0.413																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(11056-11058)Cag>Tag		spastic ataxia of Charlevoix-Saguenay (sacsin)							109.0	104.0	106.0					13																	23906959		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906959G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11056C>T	13.37:g.23906959G>A	ENSP00000371729:p.Gln3686*					SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3686*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q2936*	p.Q3686*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11644	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3686					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.11056C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	58	32.582428	0.99980	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.0522	0.97631	0.0:0.0:1.0:0.0	.	.	.	.	X	3686;2936;3686	.	ENSP00000371729:Q3686X	Q	-	1	0	SACS	22804959	1.000000	0.71417	0.995000	0.50966	0.623000	0.37688	9.869000	0.99810	2.737000	0.93849	0.563000	0.77884	CAG		0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		25	53	0	0	0	1	0	25	53				
RWDD2B	10069	broad.mit.edu	37	21	30380627	30380627	+	Splice_Site	SNP	G	G	A	rs149192196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380627G>A	ENST00000493196.1	-	3	396	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	99	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AGAAAACATCGCCTGATTAAA	0.398																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.e3-1		RWD domain containing 2B		G	VAL/ALA	0,4406		0,0,2203	78.0	79.0	79.0		296	-3.2	0.0	21	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	RWDD2B	NM_016940.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	99/320	30380627	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	10069							g.chr21:30380627G>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.295-1C>T	21.37:g.30380627G>A						RWDD2B_ENST00000486719.1_5'UTR	p.A99_splice	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN			3	396	-			99			RWD.			Splice_Site	SNP	ENST00000493196.1	37	c.294_splice	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	G	2.157	-0.393054	0.04899	0.0	1.16E-4	ENSG00000156253	ENST00000493196	T	0.21361	2.01	5.38	-3.21	0.05140	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.524559	0.22224	N	0.062907	T	0.02688	0.0081	N	0.00197	-1.87	0.20307	N	0.999912	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.36817	-0.9732	10	0.18710	T	0.47	-21.4214	0.5149	0.00602	0.2949:0.2328:0.1333:0.3389	.	99;99	Q53FD2;P57060	.;RWD2B_HUMAN	V	99	ENSP00000418693:A99V	ENSP00000418693:A99V	A	-	2	0	RWDD2B	29302498	0.023000	0.18921	0.022000	0.16811	0.967000	0.64934	0.413000	0.21148	-0.742000	0.04790	-0.302000	0.09304	GCG		0.398	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		Missense_Mutation	40	35	0	0	0	1	0	40	35				
UGT2A1	10941	broad.mit.edu	37	4	70460361	70460361	+	Missense_Mutation	SNP	C	C	T	rs148464836	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70460361C>T	ENST00000503640.1	-	5	1193	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	UGT2A1_ENST00000514019.1_Missense_Mutation_p.E546K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E380K|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E336K|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E389K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	380					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAATAGCTTCGTAGATCCCA	0.443													C|||	3	0.000599042	0.0	0.0	5008	,	,		18526	0.0		0.003	False		,,,				2504	0.0					ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1138-1140)Gaa>Aaa		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus		C	LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	73.0	64.0	67.0		1165,1138	4.5	1.0	4	dbSNP_134	67	26,8574	18.5+/-59.3	0,26,4274	yes	missense,missense	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	56,56	0,28,6475	TT,TC,CC		0.3023,0.0454,0.2153	probably-damaging,probably-damaging	389/537,380/528	70460361	28,12978	2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70460361C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1138G>A	4.37:g.70460361C>T	ENSP00000424478:p.Glu380Lys					UGT2A2_ENST00000457664.2_Missense_Mutation_p.E389K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E380K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E546K|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E336K	p.E380K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			5	1193	-			380					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1138G>A	CCDS3529.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	29.5	5.007598	0.93287	4.54E-4	0.003023	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-0.82	4.53	4.53	0.55603	.	0.104988	0.64402	D	0.000006	D	0.92051	0.7481	H	0.97465	4.01	.	.	.	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.971;0.996;0.999;0.997;0.999	D	0.94684	0.7868	9	0.87932	D	0	.	15.2029	0.73153	0.0:1.0:0.0:0.0	.	546;546;336;389;380	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	K	389;380;336;546;380	ENSP00000387888:E389K;ENSP00000424478:E380K;ENSP00000421432:E336K;ENSP00000425497:E546K;ENSP00000286604:E380K	ENSP00000286604:E380K	E	-	1	0	UGT2A1	70494950	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.349000	0.79376	2.512000	0.84698	0.644000	0.83932	GAA		0.443	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		16	22	0	0	0	1	0	16	22				
CANT1	124583	broad.mit.edu	37	17	76989898	76989898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76989898G>A	ENST00000302345.2	-	4	1434	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	CANT1_ENST00000591773.1_Missense_Mutation_p.R314C|CANT1_ENST00000392446.5_Missense_Mutation_p.R314C	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	314					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCGCCCTTGCGCTCGTCGTCC	0.672			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(940-942)Cgc>Tgc		calcium activated nucleotidase 1							43.0	33.0	37.0					17																	76989898		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76989898G>A	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.940C>T	17.37:g.76989898G>A	ENSP00000307674:p.Arg314Cys					CANT1_ENST00000392446.5_Missense_Mutation_p.R314C|CANT1_ENST00000591773.1_Missense_Mutation_p.R314C	p.R314C	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		4	1434	-			314					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.940C>T	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313355	0.60414	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.85861	-2.04;-2.04	5.26	3.17	0.36434	.	0.447823	0.25668	N	0.029095	D	0.88503	0.6454	M	0.80183	2.485	0.58432	D	0.999992	D	0.60160	0.987	P	0.52646	0.705	D	0.86872	0.2036	10	0.40728	T	0.16	-40.4832	12.2258	0.54459	0.0:0.1289:0.7371:0.134	.	314	Q8WVQ1	CANT1_HUMAN	C	314;314;263	ENSP00000307674:R314C;ENSP00000376241:R314C	ENSP00000307674:R314C	R	-	1	0	CANT1	74501493	1.000000	0.71417	0.357000	0.25798	0.021000	0.10359	5.191000	0.65110	0.542000	0.28846	0.555000	0.69702	CGC		0.672	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		12	11	0	0	0	1	0	12	11				
SLC10A3	8273	broad.mit.edu	37	X	153716011	153716011	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153716011C>T	ENST00000393587.4	-	3	1532	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	SLC10A3_ENST00000393586.1_Silent_p.V478V|SLC10A3_ENST00000263512.4_Silent_p.V423V|UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V394V|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	423					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGTTCTGCACCCCTACCT	0.647																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1267-1269)gtG>gtA		solute carrier family 10, member 3							57.0	47.0	50.0					X																	153716011		2203	4300	6503	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716011C>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1269G>A	X.37:g.153716011C>T						SLC10A3_ENST00000393586.1_Silent_p.V478V|SLC10A3_ENST00000369649.4_Silent_p.V394V|SLC10A3_ENST00000393587.4_Silent_p.V423V	p.V423V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	1767	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		423					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.1269G>A	CCDS14755.1																																																																																				0.647	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		4	32	0	0	0	1	0	4	32				
RBBP6	5930	broad.mit.edu	37	16	24581121	24581121	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24581121C>A	ENST00000319715.4	+	17	3542	c.3110C>A	c.(3109-3111)cCt>cAt	p.P1037H	RBBP6_ENST00000348022.2_Missense_Mutation_p.P1003H|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1037	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATTGTAAAACCTGCTAAAGGA	0.403																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3109-3111)cCt>cAt		retinoblastoma binding protein 6							66.0	71.0	69.0					16																	24581121		2196	4300	6496	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581121C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3110C>A	16.37:g.24581121C>A	ENSP00000317872:p.Pro1037His					RBBP6_ENST00000348022.2_Missense_Mutation_p.P1003H|RBBP6_ENST00000381039.3_Intron	p.P1037H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3542	+			1037			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.3110C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965775	0.53507	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.16897	2.33;2.31	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000014	T	0.23649	0.0572	N	0.19112	0.55	0.36276	D	0.855463	D;D	0.69078	0.997;0.994	P;P	0.60473	0.875;0.753	T	0.11494	-1.0585	10	0.72032	D	0.01	-13.816	13.0061	0.58705	0.0:0.9262:0.0:0.0738	.	1003;1037	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	H	1037;1003	ENSP00000317872:P1037H;ENSP00000316291:P1003H	ENSP00000317872:P1037H	P	+	2	0	RBBP6	24488622	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	4.781000	0.62389	2.661000	0.90470	0.655000	0.94253	CCT		0.403	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		41	46	1	0	3.76604e-16	1	4.85093e-16	41	46				
ANKDD1A	348094	broad.mit.edu	37	15	65218321	65218321	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65218321G>A	ENST00000380230.3	+	5	452	c.423G>A	c.(421-423)gcG>gcA	p.A141A	ANKDD1A_ENST00000395720.1_Silent_p.A141A|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Silent_p.A141A|ANKDD1A_ENST00000395723.1_Silent_p.A50A|ANKDD1A_ENST00000496660.1_Silent_p.A50A|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	141					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGTGCTGGCGTTCATAATGG	0.592																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(421-423)gcG>gcA		ankyrin repeat and death domain containing 1A							90.0	71.0	78.0					15																	65218321		2202	4299	6501	SO:0001819	synonymous_variant	348094				signal transduction			g.chr15:65218321G>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.423G>A	15.37:g.65218321G>A						ANKDD1A_ENST00000395723.1_Silent_p.A50A|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Silent_p.A141A|ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000496660.1_Silent_p.A50A|ANKDD1A_ENST00000395720.1_Silent_p.A141A	p.A141A	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			5	452	+			141					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	c.423G>A	CCDS10197.2																																																																																				0.592	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		9	9	0	0	0	1	0	9	9				
TRHDE	29953	broad.mit.edu	37	12	72863628	72863628	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863628G>T	ENST00000261180.4	+	4	1367	c.1271G>T	c.(1270-1272)aGt>aTt	p.S424I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	424					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGGATCCCAGTGTTTCATCT	0.383																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1270-1272)aGt>aTt		thyrotropin-releasing hormone degrading enzyme							159.0	161.0	160.0					12																	72863628		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72863628G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1271G>T	12.37:g.72863628G>T	ENSP00000261180:p.Ser424Ile						p.S424I	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			4	1367	+			424					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1271G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774941	0.49786	.	.	ENSG00000072657	ENST00000261180	T	0.02787	4.16	5.87	5.87	0.94306	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.137193	0.64402	D	0.000002	T	0.08447	0.0210	L	0.39020	1.185	0.51482	D	0.999927	D	0.62365	0.991	P	0.56163	0.793	T	0.08911	-1.0699	10	0.51188	T	0.08	.	20.2032	0.98269	0.0:0.0:1.0:0.0	.	424	Q9UKU6	TRHDE_HUMAN	I	424	ENSP00000261180:S424I	ENSP00000261180:S424I	S	+	2	0	TRHDE	71149895	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.282000	0.72639	2.785000	0.95823	0.650000	0.86243	AGT		0.383	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		7	69	1	0	5.18039e-06	1	5.91835e-06	7	69				
JMJD6	23210	broad.mit.edu	37	17	74714828	74714828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74714828G>A	ENST00000397625.4	-	6	1309	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	JMJD6_ENST00000445478.2_Missense_Mutation_p.R399C|JMJD6_ENST00000585429.1_Silent_p.S352S	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	399					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GAGGAGCTGCGCTCTTTGCTG	0.642																																						ENST00000445478.2																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(1195-1197)Cgc>Tgc		jumonji domain containing 6							87.0	95.0	92.0					17																	74714828		2113	4230	6343	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74714828G>A	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.1195C>T	17.37:g.74714828G>A	ENSP00000380750:p.Arg399Cys					JMJD6_ENST00000585429.1_Silent_p.S352S|JMJD6_ENST00000397625.4_Missense_Mutation_p.R399C	p.R399C	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN			6	1398	-			399					B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.1195C>T	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120947	0.94385	.	.	ENSG00000070495	ENST00000445478;ENST00000397625	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.66939	2.045	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.52710	0.513;0.707	T	0.75071	-0.3447	9	0.87932	D	0	-33.0458	20.8794	0.99867	0.0:0.0:1.0:0.0	.	399;399	Q6NYC1;Q6NYC1-3	JMJD6_HUMAN;.	C	399	.	ENSP00000380750:R399C	R	-	1	0	JMJD6	72226423	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.783000	0.68982	2.941000	0.99782	0.655000	0.94253	CGC		0.642	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		20	28	0	0	0	1	0	20	28				
PBK	55872	broad.mit.edu	37	8	27680707	27680707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27680707C>T	ENST00000301905.4	-	4	631	c.168G>A	c.(166-168)ttG>ttA	p.L56L	PBK_ENST00000522944.1_Silent_p.L56L	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GAGAATGAGACAAACCTCTTG	0.289																																						ENST00000301905.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(166-168)ttG>ttA		PDZ binding kinase							48.0	50.0	50.0					8																	27680707		2203	4294	6497	SO:0001819	synonymous_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27680707C>T	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.168G>A	8.37:g.27680707C>T						PBK_ENST00000522944.1_Silent_p.L56L	p.L56L	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	4	631	-		Ovarian(32;0.000953)	56			Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	c.168G>A	CCDS6063.1																																																																																				0.289	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		6	33	0	0	0	1	0	6	33				
GABPA	2551	broad.mit.edu	37	21	27117541	27117541	+	Missense_Mutation	SNP	C	C	T	rs200493501	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27117541C>T	ENST00000354828.3	+	3	625	c.98C>T	c.(97-99)gCg>gTg	p.A33V	GABPA_ENST00000400075.3_Missense_Mutation_p.A33V|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	33					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAACCTACGCGCCAGCTGAA	0.373													C|||	2	0.000399361	0.0	0.0	5008	,	,		17565	0.002		0.0	False		,,,				2504	0.0					ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(97-99)gCg>gTg		GA binding protein transcription factor, alpha subunit 60kDa		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	74.0	71.0	72.0		98,98	5.1	0.6	21	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	GABPA	NM_001197297.1,NM_002040.3	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	33/455,33/455	27117541	1,13005	2203	4300	6503	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27117541C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.98C>T	21.37:g.27117541C>T	ENSP00000346886:p.Ala33Val					GABPA_ENST00000400075.3_Missense_Mutation_p.A33V|GABPA_ENST00000487266.1_3'UTR	p.A33V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			3	625	+			33					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.98C>T	CCDS13575.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	14.80	2.642457	0.47153	0.0	1.16E-4	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.12984	2.63;2.63	5.11	5.11	0.69529	.	0.541561	0.21164	N	0.079119	T	0.08179	0.0204	N	0.08118	0	0.26665	N	0.971832	B	0.16603	0.018	B	0.11329	0.006	T	0.21895	-1.0232	10	0.35671	T	0.21	.	13.8303	0.63377	0.0:0.8466:0.1534:0.0	.	33	Q06546	GABPA_HUMAN	V	33	ENSP00000346886:A33V;ENSP00000382948:A33V	ENSP00000346886:A33V	A	+	2	0	GABPA	26039412	1.000000	0.71417	0.643000	0.29450	0.738000	0.42128	5.643000	0.67895	2.374000	0.81015	0.655000	0.94253	GCG		0.373	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		19	51	0	0	0	1	0	19	51				
AGO2	27161	broad.mit.edu	37	8	141551349	141551349	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141551349G>T	ENST00000220592.5	-	15	2060	c.1948C>A	c.(1948-1950)Ctc>Atc	p.L650I	AGO2_ENST00000519980.1_Missense_Mutation_p.L650I	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	650	Interaction with GW182 family members. {ECO:0000255}.|Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AACTGGATGAGGAGCTCGCGG	0.632																																						ENST00000220592.5																			0											c.(1948-1950)Ctc>Atc		argonaute RISC catalytic component 2							113.0	88.0	96.0					8																	141551349		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141551349G>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1948C>A	8.37:g.141551349G>T	ENSP00000220592:p.Leu650Ile					AGO2_ENST00000519980.1_Missense_Mutation_p.L650I	p.L650I	NM_012154.3	NP_036286.2					15	2060	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1948C>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525217	0.96431	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.53857	0.6;0.6	5.36	5.36	0.76844	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.79011	2.435	0.80722	D	1	P;D	0.59767	0.821;0.986	P;P	0.59357	0.775;0.856	T	0.75642	-0.3247	10	0.87932	D	0	-15.5491	19.4371	0.94799	0.0:0.0:1.0:0.0	.	650;650	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	I	650	ENSP00000220592:L650I;ENSP00000430176:L650I	ENSP00000220592:L650I	L	-	1	0	EIF2C2	141620531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.642000	0.74329	2.642000	0.89623	0.650000	0.86243	CTC		0.632	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			4	9	1	0	0.00024832	1	0.0002712	4	9				
SALL2	6297	broad.mit.edu	37	14	21991466	21991466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21991466C>T	ENST00000327430.3	-	2	2690	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	SALL2_ENST00000450879.2_Missense_Mutation_p.R662K|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	799					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGAATCACCTCTCACTGATAT	0.537																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2395-2397)aGa>aAa		spalt-like transcription factor 2							116.0	106.0	109.0					14																	21991466		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991466C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2396G>A	14.37:g.21991466C>T	ENSP00000333537:p.Arg799Lys					SALL2_ENST00000450879.2_Missense_Mutation_p.R662K|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	p.R799K	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2690	-	all_cancers(95;0.000662)		799					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.2396G>A	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.39|18.39	3.613970|3.613970	0.66672|0.66672	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879	.|T;T	.|0.03831	.|3.84;3.79	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.32430	.|N	.|0.006102	T|T	0.04048|0.04048	0.0113|0.0113	L|L	0.27053|0.27053	0.805|0.805	0.26679|0.26679	N|N	0.971579|0.971579	.|B;B;B;B	.|0.29862	.|0.259;0.259;0.141;0.141	.|B;B;B;B	.|0.32393	.|0.145;0.145;0.068;0.068	T|T	0.38156|0.38156	-0.9674|-0.9674	5|10	.|0.07813	.|T	.|0.8	-8.831|-8.831	13.1465|13.1465	0.59465|0.59465	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|662;662;560;799	.|B4DK65;E7EW59;B4DFD9;Q9Y467	.|.;.;.;SALL2_HUMAN	K|K	658|799;662	.|ENSP00000333537:R799K;ENSP00000396773:R662K	.|ENSP00000333537:R799K	E|R	-|-	1|2	0|0	SALL2|SALL2	21061306|21061306	0.986000|0.986000	0.35501|0.35501	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	3.378000|3.378000	0.52432|0.52432	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.537	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		11	24	0	0	0	1	0	11	24				
GPATCH3	63906	broad.mit.edu	37	1	27217689	27217689	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27217689C>A	ENST00000361720.5	-	7	1413	c.1390G>T	c.(1390-1392)Ggg>Tgg	p.G464W	GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374135.4_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	464							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGTTGCCCAAATGGCTGT	0.557																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(1390-1392)Ggg>Tgg		G patch domain containing 3							38.0	37.0	37.0					1																	27217689		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27217689C>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.1390G>T	1.37:g.27217689C>A	ENSP00000354645:p.Gly464Trp						p.G464W	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	7	1413	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	464					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.1390G>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748791	0.49257	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000450844	T;T	0.46819	1.45;0.86	5.04	4.11	0.48088	.	0.546844	0.20699	N	0.087306	T	0.38026	0.1025	L	0.43152	1.355	0.26668	N	0.971784	P	0.47106	0.89	B	0.42343	0.384	T	0.37686	-0.9695	10	0.66056	D	0.02	-9.309	5.9917	0.19470	0.1537:0.6752:0.0:0.171	.	464	Q96I76	GPTC3_HUMAN	W	464;446;82	ENSP00000354645:G464W;ENSP00000399036:G82W	ENSP00000354645:G464W	G	-	1	0	GPATCH3	27090276	0.998000	0.40836	0.998000	0.56505	0.994000	0.84299	1.286000	0.33273	1.307000	0.44944	0.655000	0.94253	GGG		0.557	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		5	16	1	0	0.00116845	1	0.00124821	5	16				
TTC21B	79809	broad.mit.edu	37	2	166737287	166737287	+	Missense_Mutation	SNP	T	T	C	rs144130537	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166737287T>C	ENST00000243344.7	-	27	3844	c.3707A>G	c.(3706-3708)tAt>tGt	p.Y1236C	TTC21B_ENST00000536175.1_Missense_Mutation_p.Y174C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1236					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTATCCCATATATTCATAAGC	0.368																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(3706-3708)tAt>tGt		tetratricopeptide repeat domain 21B		T	CYS/TYR	3,4403	6.2+/-15.9	0,3,2200	93.0	86.0	88.0		3707	5.7	1.0	2	dbSNP_134	88	0,8600		0,0,4300	no	missense	TTC21B	NM_024753.3	194	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	probably-damaging	1236/1317	166737287	3,13003	2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166737287T>C	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3707A>G	2.37:g.166737287T>C	ENSP00000243344:p.Tyr1236Cys					TTC21B_ENST00000536175.1_Missense_Mutation_p.Y174C	p.Y1236C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			27	3844	-			1236					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3707A>G	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355766	0.82243	6.81E-4	0.0	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.38240	1.15;1.15	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76002	-0.3118	10	0.62326	D	0.03	-21.1365	16.2988	0.82793	0.0:0.0:0.0:1.0	.	1236	Q7Z4L5	TT21B_HUMAN	C	174;1236	ENSP00000438692:Y174C;ENSP00000243344:Y1236C	ENSP00000243344:Y1236C	Y	-	2	0	TTC21B	166445533	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.798000	0.85924	2.311000	0.77944	0.533000	0.62120	TAT		0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		13	31	0	0	0	1	0	13	31				
CD2AP	23607	broad.mit.edu	37	6	47580272	47580272	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47580272G>T	ENST00000359314.5	+	17	2334	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	626					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTAATCTAGAGGTAATTAATT	0.348																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e17+1		CD2-associated protein							47.0	49.0	49.0					6																	47580272		2203	4300	6503	SO:0001630	splice_region_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47580272G>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1878+1G>T	6.37:g.47580272G>T							p.E626_splice	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		17	2334	+			626					A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	37	c.1878_splice	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002007	0.74932	.	.	ENSG00000198087	ENST00000359314	T	0.27402	1.67	5.5	5.5	0.81552	.	0.318665	0.29900	N	0.010914	T	0.35566	0.0936	L	0.60455	1.87	0.80722	D	1	D	0.62365	0.991	P	0.52343	0.696	T	0.15206	-1.0445	10	0.72032	D	0.01	-17.729	17.588	0.87988	0.0:0.0:1.0:0.0	.	626	Q9Y5K6	CD2AP_HUMAN	D	626	ENSP00000352264:E626D	ENSP00000352264:E626D	E	+	3	2	CD2AP	47688231	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	6.201000	0.72124	2.599000	0.87857	0.650000	0.86243	GAG		0.348	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		Missense_Mutation	10	12	1	0	1.08611e-07	1	1.2824e-07	10	12				
DRG1	4733	broad.mit.edu	37	22	31796681	31796681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31796681C>T	ENST00000331457.4	+	2	279	c.118C>T	c.(118-120)Cga>Tga	p.R40*	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	40					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TAAGCTTCGTCGAGAACTCAT	0.433																																						ENST00000331457.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(118-120)Cga>Tga		developmentally regulated GTP binding protein 1							81.0	74.0	77.0					22																	31796681		2203	4300	6503	SO:0001587	stop_gained	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31796681C>T	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.118C>T	22.37:g.31796681C>T	ENSP00000329715:p.Arg40*					DRG1_ENST00000433341.1_3'UTR	p.R40*	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN			2	279	+			40					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Nonsense_Mutation	SNP	ENST00000331457.4	37	c.118C>T	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831873	0.91036	.	.	ENSG00000185721	ENST00000331457	.	.	.	4.83	0.973	0.19710	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4338	0.67268	0.2459:0.7541:0.0:0.0	.	.	.	.	X	40	.	ENSP00000329715:R40X	R	+	1	2	DRG1	30126681	0.932000	0.31603	0.982000	0.44146	0.998000	0.95712	1.825000	0.39081	0.315000	0.23110	0.563000	0.77884	CGA		0.433	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		4	50	0	0	0	1	0	4	50				
HERC2P3	283755	broad.mit.edu	37	15	20643893	20643893	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20643893G>T	ENST00000428453.1	-	0	3566							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCATGTCAGAGAACTGCACGG	0.502																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															82.0	70.0	74.0					15																	20643893		2189	4267	6456			0							g.chr15:20643893G>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643893G>T														0	3566	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.502	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		16	15	1	0	0.00152264	1	0.00162519	16	15				
ABCA3	21	broad.mit.edu	37	16	2369724	2369724	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2369724C>A	ENST00000301732.5	-	8	1431	c.731G>T	c.(730-732)aGg>aTg	p.R244M	ABCA3_ENST00000382381.3_Missense_Mutation_p.R244M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	244					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTACGGGAACCTCTTGATGGT	0.632																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(730-732)aGg>aTg		ATP-binding cassette, sub-family A (ABC1), member 3							132.0	103.0	113.0					16																	2369724		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369724C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.731G>T	16.37:g.2369724C>A	ENSP00000301732:p.Arg244Met					ABCA3_ENST00000382381.3_Missense_Mutation_p.R244M	p.R244M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			8	1431	-		Ovarian(90;0.17)	244					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.731G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716586	0.68844	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.92199	-2.99	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.978;0.999	D	0.96637	0.9471	10	0.87932	D	0	.	17.2085	0.86924	0.0:1.0:0.0:0.0	.	244;306;244	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	M	244;306	ENSP00000301732:R244M	ENSP00000301732:R244M	R	-	2	0	ABCA3	2309725	1.000000	0.71417	0.999000	0.59377	0.088000	0.18126	7.098000	0.76974	2.645000	0.89757	0.655000	0.94253	AGG		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		4	61	1	0	1.23904e-05	1	1.39987e-05	4	61				
OR9A4	130075	broad.mit.edu	37	7	141619580	141619580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141619580G>A	ENST00000548136.1	+	1	964	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GAGGCCCTTCGGGATGGGGTG	0.423																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(904-906)cGg>cAg		olfactory receptor, family 9, subfamily A, member 4							95.0	96.0	96.0					7																	141619580		2061	4245	6306	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619580G>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.905G>A	7.37:g.141619580G>A	ENSP00000448789:p.Arg302Gln					MGAM_ENST00000497554.1_Intron	p.R302Q	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	964	+	Melanoma(164;0.0171)		302					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.905G>A	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	G	6.349	0.432446	0.12045	.	.	ENSG00000258083	ENST00000548136	T	0.39406	1.08	3.71	1.88	0.25563	.	.	.	.	.	T	0.27278	0.0669	L	0.28344	0.845	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.20371	-1.0277	9	0.56958	D	0.05	0.029	5.9472	0.19225	0.246:0.0:0.754:0.0	.	302	Q8NGU2	OR9A4_HUMAN	Q	302	ENSP00000448789:R302Q	ENSP00000386148:R302Q	R	+	2	0	OR9A4	141266049	0.000000	0.05858	0.058000	0.19502	0.126000	0.20510	0.028000	0.13644	0.371000	0.24564	-0.229000	0.12294	CGG		0.423	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		7	71	0	0	0	1	0	7	71				
WNK1	65125	broad.mit.edu	37	12	989970	989970	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:989970T>G	ENST00000315939.6	+	12	3559	c.2916T>G	c.(2914-2916)caT>caG	p.H972Q	WNK1_ENST00000340908.4_Missense_Mutation_p.H565Q|WNK1_ENST00000530271.2_Missense_Mutation_p.H1470Q|WNK1_ENST00000537687.1_Missense_Mutation_p.H1232Q|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	972					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTTGCATCCATTCTACAGTCC	0.502																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(3694-3696)caT>caG		WNK lysine deficient protein kinase 1							289.0	288.0	288.0					12																	989970		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:989970T>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2916T>G	12.37:g.989970T>G	ENSP00000313059:p.His972Gln					WNK1_ENST00000315939.6_Missense_Mutation_p.H972Q|WNK1_ENST00000340908.4_Missense_Mutation_p.H565Q|WNK1_ENST00000530271.2_Missense_Mutation_p.H1470Q|WNK1_ENST00000535572.1_Intron	p.H1232Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		12	4339	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		972					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3696T>G	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.087|9.087	1.000727|1.000727	0.19121|0.19121	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000545285|ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908;ENST00000535698	.|T;T;T;T;T	.|0.23552	.|1.9;1.9;1.9;1.9;1.9	5.6|5.6	4.45|4.45	0.53987|0.53987	.|.	.|0.087808	.|0.49916	.|D	.|0.000122	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.14661|0.14661	0.345|0.345	0.30817|0.30817	N|N	0.738194|0.738194	.|B	.|0.22604	.|0.072	.|B	.|0.23018	.|0.043	T|T	0.07986|0.07986	-1.0744|-1.0744	5|10	.|0.45353	.|T	.|0.12	-9.9112|-9.9112	10.6534|10.6534	0.45661|0.45661	0.0:0.0729:0.0:0.9271|0.0:0.0729:0.0:0.9271	.|.	.|972	.|Q9H4A3	.|WNK1_HUMAN	V|Q	139|972;1232;1470;565;242	.|ENSP00000313059:H972Q;ENSP00000444465:H1232Q;ENSP00000433548:H1470Q;ENSP00000341292:H565Q;ENSP00000439552:H242Q	.|ENSP00000313059:H972Q	F|H	+|+	1|3	0|2	WNK1|WNK1	860231|860231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.348000|3.348000	0.52209|0.52209	1.058000|1.058000	0.40530|0.40530	-0.274000|-0.274000	0.10170|0.10170	TTC|CAT		0.502	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	321	0	0	0	1	0	7	321				
RFTN2	130132	broad.mit.edu	37	2	198508985	198508985	+	Missense_Mutation	SNP	G	G	A	rs369606195		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198508985G>A	ENST00000295049.4	-	3	871	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	112					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGGTGCTGCCGAATTCTTTGG	0.453																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(334-336)tCg>tTg		raftlin family member 2		G	LEU/SER	0,4406		0,0,2203	133.0	124.0	127.0		335	2.7	0.0	2		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	RFTN2	NM_144629.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	112/502	198508985	1,13005	2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198508985G>A	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.335C>T	2.37:g.198508985G>A	ENSP00000295049:p.Ser112Leu						p.S112L	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			3	871	-			112					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.335C>T	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549036	0.27652	0.0	1.16E-4	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.31247	1.5;1.51	4.53	2.69	0.31865	.	1.217400	0.05471	N	0.553069	T	0.30166	0.0756	L	0.53249	1.67	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26292	-1.0107	10	0.48119	T	0.1	0.0163	5.7593	0.18190	0.0979:0.0:0.7129:0.1892	.	112	Q52LD8	RFTN2_HUMAN	L	112	ENSP00000295049:S112L;ENSP00000398128:S112L	ENSP00000295049:S112L	S	-	2	0	RFTN2	198217230	0.011000	0.17503	0.003000	0.11579	0.752000	0.42762	1.003000	0.29809	0.807000	0.34208	0.650000	0.86243	TCG		0.453	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		17	38	0	0	0	1	0	17	38				
MYH1	4619	broad.mit.edu	37	17	10399784	10399784	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10399784A>C	ENST00000226207.5	-	34	4833	c.4739T>G	c.(4738-4740)aTt>aGt	p.I1580S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1580					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I1580T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTTCAGCAATTTTCCTATC	0.448																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.I1580T(1)	lung(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4738-4740)aTt>aGt		myosin, heavy chain 1, skeletal muscle, adult							155.0	149.0	151.0					17																	10399784		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399784A>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4739T>G	17.37:g.10399784A>C	ENSP00000226207:p.Ile1580Ser					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.I1580S	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	4833	-			1580					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4739T>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505905	0.44558	.	.	ENSG00000109061	ENST00000226207	T	0.80909	-1.43	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.43416	U	0.000580	T	0.80778	0.4688	M	0.67569	2.06	0.54753	D	0.999989	B	0.17667	0.023	B	0.23574	0.047	T	0.78532	-0.2168	10	0.72032	D	0.01	.	15.9239	0.79597	1.0:0.0:0.0:0.0	.	1580	P12882	MYH1_HUMAN	S	1580	ENSP00000226207:I1580S	ENSP00000226207:I1580S	I	-	2	0	MYH1	10340509	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	9.063000	0.93927	2.207000	0.71202	0.533000	0.62120	ATT		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		17	131	0	0	0	1	0	17	131				
C19orf54	284325	broad.mit.edu	37	19	41249867	41249867	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41249867A>C	ENST00000378313.2	-	5	780	c.661T>G	c.(661-663)Ttc>Gtc	p.F221V	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598485.2_Missense_Mutation_p.F49V|C19orf54_ENST00000470681.1_Silent_p.T41T|C19orf54_ENST00000339153.3_Missense_Mutation_p.F49V|C19orf54_ENST00000598729.1_Missense_Mutation_p.F49V	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	221										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCATGGTTGAAGTCCTCGTCG	0.622																																						ENST00000378313.2																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.(661-663)Ttc>Gtc		chromosome 19 open reading frame 54							173.0	143.0	153.0					19																	41249867		2203	4300	6503	SO:0001583	missense	284325							g.chr19:41249867A>C	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.661T>G	19.37:g.41249867A>C	ENSP00000367564:p.Phe221Val					C19orf54_ENST00000598485.2_Missense_Mutation_p.F49V|C19orf54_ENST00000598729.1_Missense_Mutation_p.F49V|C19orf54_ENST00000339153.3_Missense_Mutation_p.F49V|C19orf54_ENST00000470681.1_Silent_p.T41T	p.F221V	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	780	-			221					A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	c.661T>G	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365438	0.61513	.	.	ENSG00000188493	ENST00000378313;ENST00000339153	.	.	.	5.69	5.69	0.88448	.	0.174512	0.51477	D	0.000094	T	0.63558	0.2521	L	0.38838	1.175	0.58432	D	0.999993	D;D	0.63046	0.992;0.96	P;P	0.57720	0.826;0.592	T	0.66606	-0.5881	9	0.66056	D	0.02	-22.9401	14.9376	0.70970	1.0:0.0:0.0:0.0	.	49;221	Q5BKX5-3;Q5BKX5	.;CS054_HUMAN	V	221;49	.	ENSP00000341122:F49V	F	-	1	0	C19orf54	45941707	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.757000	0.62213	2.181000	0.69327	0.459000	0.35465	TTC		0.622	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		25	50	0	0	0	1	0	25	50				
CSPG4	1464	broad.mit.edu	37	15	75982697	75982697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75982697C>T	ENST00000308508.5	-	3	801	c.709G>A	c.(709-711)Gca>Aca	p.A237T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	237	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCAAGGGTGCCTGCCGGCTC	0.642																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(709-711)Gca>Aca		chondroitin sulfate proteoglycan 4							17.0	19.0	18.0					15																	75982697		2179	4252	6431	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982697C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.709G>A	15.37:g.75982697C>T	ENSP00000312506:p.Ala237Thr						p.A237T	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	801	-			237			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.709G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.987129	0.74589	.	.	ENSG00000173546	ENST00000308508	T	0.79554	-1.28	5.21	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000003	D	0.85124	0.5625	L	0.58101	1.795	0.53005	D	0.999961	D	0.56521	0.976	P	0.58013	0.831	D	0.86428	0.1759	10	0.72032	D	0.01	.	14.1373	0.65295	0.1513:0.8487:0.0:0.0	.	237	Q6UVK1	CSPG4_HUMAN	T	237	ENSP00000312506:A237T	ENSP00000312506:A237T	A	-	1	0	CSPG4	73769752	1.000000	0.71417	0.825000	0.32803	0.922000	0.55478	4.617000	0.61204	1.166000	0.42689	0.555000	0.69702	GCA		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		10	27	0	0	0	1	0	10	27				
KANK2	25959	broad.mit.edu	37	19	11287388	11287388	+	Silent	SNP	G	G	A	rs373878612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11287388G>A	ENST00000586659.1	-	7	1940	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	KANK2_ENST00000432929.2_Silent_p.A550A|KANK2_ENST00000355150.5_Silent_p.A542A|KANK2_ENST00000589359.1_Silent_p.A550A|KANK2_ENST00000589894.1_Silent_p.A542A			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	542					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGGGCTTCGGCCACACTCG	0.627																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1648-1650)gcC>gcT		KN motif and ankyrin repeat domains 2		G	,	0,4406		0,0,2203	100.0	92.0	95.0		1626,1650	-2.8	0.0	19		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	542/852,550/860	11287388	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11287388G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1626C>T	19.37:g.11287388G>A						KANK2_ENST00000589894.1_Silent_p.A542A|KANK2_ENST00000589359.1_Silent_p.A550A|KANK2_ENST00000586659.1_Silent_p.A542A|KANK2_ENST00000355150.5_Silent_p.A542A	p.A550A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			7	2010	-			542					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.1650C>T	CCDS12255.1																																																																																				0.627	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		26	67	0	0	0	1	0	26	67				
FAM208A	23272	broad.mit.edu	37	3	56675539	56675539	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56675539G>A	ENST00000493960.2	-	15	2467	c.2457C>T	c.(2455-2457)acC>acT	p.T819T	FAM208A_ENST00000431842.2_Silent_p.T423T|FAM208A_ENST00000355628.5_Silent_p.T819T	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	819							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCTTATCTGGGGTAGAGTTCA	0.408																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(1267-1269)acC>acT		family with sequence similarity 208, member A							155.0	134.0	141.0					3																	56675539		2203	4300	6503	SO:0001819	synonymous_variant	23272							g.chr3:56675539G>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2457C>T	3.37:g.56675539G>A						FAM208A_ENST00000493960.2_Silent_p.T819T|FAM208A_ENST00000355628.5_Silent_p.T819T	p.T423T	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			8	2193	-			819					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	c.1269C>T	CCDS46853.1																																																																																				0.408	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		14	40	0	0	0	1	0	14	40				
TAS2R10	50839	broad.mit.edu	37	12	10978290	10978290	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978290A>G	ENST00000240619.2	-	1	667	c.579T>C	c.(577-579)tgT>tgC	p.C193C		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	193					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTAAAAAAATACATGTAATTA	0.363																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(577-579)tgT>tgC		taste receptor, type 2, member 10							63.0	65.0	64.0					12																	10978290		2203	4295	6498	SO:0001819	synonymous_variant	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978290A>G	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.579T>C	12.37:g.10978290A>G							p.C193C	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	667	-			193					Q3MIM9|Q6NTD9	Silent	SNP	ENST00000240619.2	37	c.579T>C	CCDS8634.1																																																																																				0.363	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			10	108	0	0	0	1	0	10	108				
C5orf15	56951	broad.mit.edu	37	5	133295380	133295380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133295380C>T	ENST00000231512.3	-	2	673	c.471G>A	c.(469-471)acG>acA	p.T157T	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	157						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CCCTGGGGCCCGTGGTCCAGT	0.478																																						ENST00000231512.3																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(469-471)acG>acA		chromosome 5 open reading frame 15							127.0	113.0	118.0					5																	133295380		2203	4300	6503	SO:0001819	synonymous_variant	56951					integral to membrane		g.chr5:133295380C>T	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.471G>A	5.37:g.133295380C>T						C5orf15_ENST00000507191.1_5'UTR	p.T157T	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	673	-			157					B2RD10|D3DQ92|Q9NRG2	Silent	SNP	ENST00000231512.3	37	c.471G>A	CCDS4167.1																																																																																				0.478	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		5	53	0	0	0	1	0	5	53				
ZNF136	7695	broad.mit.edu	37	19	12297985	12297985	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12297985G>A	ENST00000343979.4	+	4	932	c.792G>A	c.(790-792)ctG>ctA	p.L264L	ZNF136_ENST00000398616.2_Silent_p.L198L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	264					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TTCATTCTCTGAGTTCATTTC	0.393																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(790-792)ctG>ctA		zinc finger protein 136							72.0	69.0	70.0					19																	12297985		2203	4300	6503	SO:0001819	synonymous_variant	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297985G>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.792G>A	19.37:g.12297985G>A						ZNF136_ENST00000398616.2_Silent_p.L198L	p.L264L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	932	+			264						Silent	SNP	ENST00000343979.4	37	c.792G>A	CCDS32916.1																																																																																				0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		28	57	0	0	0	1	0	28	57				
NAV2	89797	broad.mit.edu	37	11	20122653	20122653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20122653C>T	ENST00000396087.3	+	35	6628	c.6529C>T	c.(6529-6531)Cga>Tga	p.R2177*	NAV2_ENST00000396085.1_Nonsense_Mutation_p.R2121*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.R2054*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.R2118*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.R1182*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.R2108*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.R2106*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.R1182*	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2177					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TATAGTGCTTCGAGAGGGACG	0.542																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6361-6363)Cga>Tga		neuron navigator 2							105.0	94.0	98.0					11																	20122653		2203	4300	6503	SO:0001587	stop_gained	89797					nucleus	ATP binding|helicase activity	g.chr11:20122653C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6529C>T	11.37:g.20122653C>T	ENSP00000379396:p.Arg2177*					NAV2_ENST00000396087.3_Nonsense_Mutation_p.R2177*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.R2108*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.R1182*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.R2106*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.R2054*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.R2118*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.R1182*	p.R2121*	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			33	6722	+			2177					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Nonsense_Mutation	SNP	ENST00000396087.3	37	c.6361C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	48	14.785745	0.99810	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	.	.	.	5.71	4.75	0.60458	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6748	0.28480	0.2703:0.6525:0.0:0.0771	.	.	.	.	X	2054;2121;2118;2177;2106;2108;1182;1182	.	.	R	+	1	2	NAV2	20079229	0.133000	0.22466	0.995000	0.50966	0.974000	0.67602	1.026000	0.30103	2.702000	0.92279	0.549000	0.68633	CGA		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		36	50	0	0	0	1	0	36	50				
PA2G4	5036	broad.mit.edu	37	12	56504771	56504771	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56504771C>A	ENST00000303305.6	+	10	1285	c.866C>A	c.(865-867)gCt>gAt	p.A289D	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	289					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAGAAGAAGGCTCGGATGGGT	0.423																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(865-867)gCt>gAt		proliferation-associated 2G4, 38kDa							63.0	61.0	61.0					12																	56504771		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56504771C>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.866C>A	12.37:g.56504771C>A	ENSP00000302886:p.Ala289Asp					RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	p.A289D	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		10	1285	+			289					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.866C>A	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066217	0.93898	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	M	0.87971	2.92	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.994	D	0.86877	0.2039	9	0.62326	D	0.03	.	17.036	0.86476	0.0:1.0:0.0:0.0	.	289;289	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	D	289;318;289	.	ENSP00000302886:A289D	A	+	2	0	PA2G4	54791038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.716000	0.84723	2.377000	0.81083	0.655000	0.94253	GCT		0.423	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		6	20	1	0	0.0215528	1	0.0221649	6	20				
ABCC4	10257	broad.mit.edu	37	13	95724085	95724085	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95724085A>G	ENST00000376887.4	-	25	3155	c.3041T>C	c.(3040-3042)aTt>aCt	p.I1014T	ABCC4_ENST00000412704.1_Missense_Mutation_p.I967T|ABCC4_ENST00000474158.1_5'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1014					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGTGTATTCAATGACCCTTTC	0.433																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3040-3042)aTt>aCt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						138.0	137.0	137.0					13																	95724085		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95724085A>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3041T>C	13.37:g.95724085A>G	ENSP00000366084:p.Ile1014Thr					ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.I967T	p.I1014T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			25	3155	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1014					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3041T>C	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933183	0.52866	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.94457	-3.43;-3.43	5.54	5.54	0.83059	ABC transporter, transmembrane domain, type 1 (1);	0.386926	0.30859	N	0.008731	D	0.89434	0.6714	N	0.13235	0.315	0.80722	D	1	B;B	0.21071	0.019;0.051	B;B	0.23275	0.033;0.045	D	0.86355	0.1713	10	0.66056	D	0.02	.	15.6763	0.77326	1.0:0.0:0.0:0.0	.	967;1014	O15439-2;O15439	.;MRP4_HUMAN	T	967;1014	ENSP00000388657:I967T;ENSP00000366084:I1014T	ENSP00000366084:I1014T	I	-	2	0	ABCC4	94522086	1.000000	0.71417	0.935000	0.37517	0.753000	0.42808	5.989000	0.70587	2.107000	0.64212	0.533000	0.62120	ATT		0.433	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		22	49	0	0	0	1	0	22	49				
FANCM	57697	broad.mit.edu	37	14	45605352	45605352	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605352G>A	ENST00000267430.5	+	1	203	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	FANCM_ENST00000542564.2_Missense_Mutation_p.A40T|FKBP3_ENST00000216330.3_5'Flank|FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000556036.1_Missense_Mutation_p.A40T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	40					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAGCTCCAAGGCGCCTTTGCC	0.602								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(118-120)Gcg>Acg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							51.0	51.0	51.0					14																	45605352		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605352G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.118G>A	14.37:g.45605352G>A	ENSP00000267430:p.Ala40Thr					FANCM_ENST00000556036.1_Missense_Mutation_p.A40T|FANCM_ENST00000542564.2_Missense_Mutation_p.A40T	p.A40T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	203	+			40					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.118G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431308	0.62844	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.12147	2.71;2.77;2.78	4.99	0.257	0.15574	.	1.142320	0.06677	N	0.767302	T	0.10594	0.0259	L	0.51422	1.61	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.42241	-0.9463	10	0.13470	T	0.59	.	1.7464	0.02963	0.1861:0.2192:0.4353:0.1593	.	40;40;40	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	T	40	ENSP00000450596:A40T;ENSP00000267430:A40T;ENSP00000442493:A40T	ENSP00000267430:A40T	A	+	1	0	FANCM	44675102	0.000000	0.05858	0.003000	0.11579	0.819000	0.46315	-0.067000	0.11579	-0.023000	0.13963	0.462000	0.41574	GCG		0.602	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		15	25	0	0	0	1	0	15	25				
TRIP12	9320	broad.mit.edu	37	2	230672573	230672573	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230672573T>C	ENST00000283943.5	-	16	2381	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V	TRIP12_ENST00000389044.4_Missense_Mutation_p.M783V|TRIP12_ENST00000389045.3_Missense_Mutation_p.M438V|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	735					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAACATGGCATAAGTTCACTG	0.343																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2203-2205)Atg>Gtg		thyroid hormone receptor interactor 12							93.0	79.0	84.0					2																	230672573		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230672573T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2203A>G	2.37:g.230672573T>C	ENSP00000283943:p.Met735Val					TRIP12_ENST00000389045.3_Missense_Mutation_p.M438V|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.M783V	p.M735V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	16	2381	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	735					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.2203A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482604	0.44147	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.32023	1.47;1.47;1.47	5.23	5.23	0.72850	Armadillo-type fold (1);	0.037226	0.85682	D	0.000000	T	0.37812	0.1017	M	0.76574	2.34	0.80722	D	1	B;B;B;B	0.15141	0.012;0.004;0.007;0.007	B;B;B;B	0.14578	0.011;0.003;0.005;0.005	T	0.30001	-0.9993	10	0.72032	D	0.01	.	15.424	0.75038	0.0:0.0:0.0:1.0	.	741;438;783;735	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	V	735;438;783	ENSP00000283943:M735V;ENSP00000373697:M438V;ENSP00000373696:M783V	ENSP00000283943:M735V	M	-	1	0	TRIP12	230380817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.070000	0.71220	2.103000	0.63969	0.383000	0.25322	ATG		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		6	16	0	0	0	1	0	6	16				
ZNF526	116115	broad.mit.edu	37	19	42730536	42730536	+	Missense_Mutation	SNP	G	G	A	rs143303371	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42730536G>A	ENST00000301215.3	+	3	2206	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAAGCAGGCGGGCTCTTGCA	0.602													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19269	0.0		0.0	False		,,,				2504	0.0					ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1981-1983)Ggg>Agg		zinc finger protein 526		G	ARG/GLY	8,4398	14.3+/-33.2	0,8,2195	82.0	85.0	84.0		1981	4.3	0.9	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF526	NM_133444.1	125	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	probably-damaging	661/671	42730536	9,12997	2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730536G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1981G>A	19.37:g.42730536G>A	ENSP00000301215:p.Gly661Arg						p.G661R	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	2206	+		Prostate(69;0.0704)	661					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1981G>A	CCDS12598.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.98	1.799551	0.31869	0.001816	1.16E-4	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.10860	2.83	4.35	4.35	0.52113	.	0.477578	0.19994	N	0.101484	T	0.06234	0.0161	N	0.08118	0	0.31676	N	0.643764	P	0.51537	0.946	B	0.43478	0.421	T	0.03981	-1.0987	10	0.54805	T	0.06	-24.5561	8.4037	0.32601	0.107:0.0:0.893:0.0	.	661	Q8TF50	ZN526_HUMAN	R	517;661	ENSP00000301215:G661R	ENSP00000301215:G661R	G	+	1	0	ZNF526	47422376	0.000000	0.05858	0.947000	0.38551	0.044000	0.14063	0.129000	0.15830	2.424000	0.82194	0.561000	0.74099	GGG		0.602	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		33	92	0	0	0	1	0	33	92				
SHROOM2	357	broad.mit.edu	37	X	9900466	9900466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900466C>T	ENST00000380913.3	+	6	3233	c.3143C>T	c.(3142-3144)tCg>tTg	p.S1048L	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1048					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAGACTCGTGGCCAGTG	0.647																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3142-3144)tCg>tTg		shroom family member 2							20.0	17.0	18.0					X																	9900466		2190	4293	6483	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900466C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3143C>T	X.37:g.9900466C>T	ENSP00000370299:p.Ser1048Leu					SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	p.S1048L	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3233	+		Hepatocellular(5;0.000888)	1048					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3143C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915831	0.33815	.	.	ENSG00000146950	ENST00000380913	T	0.15487	2.42	4.37	2.26	0.28386	.	2.033170	0.03515	U	0.220103	T	0.10852	0.0265	L	0.29908	0.895	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.28299	-1.0048	10	0.09338	T	0.73	.	0.6018	0.00746	0.2825:0.3435:0.1341:0.2399	.	1048	Q13796	SHRM2_HUMAN	L	1048	ENSP00000370299:S1048L	ENSP00000370299:S1048L	S	+	2	0	SHROOM2	9860466	0.000000	0.05858	0.000000	0.03702	0.432000	0.31715	-0.645000	0.05409	0.072000	0.16694	0.594000	0.82650	TCG		0.647	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	14	0	0	0	1	0	3	14				
MOXD1	26002	broad.mit.edu	37	6	132618927	132618927	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132618927G>A	ENST00000367963.3	-	11	1794	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	MOXD1_ENST00000336749.3_Splice_Site_p.S491L	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	559						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.S491L(1)|p.S559L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAGCTTACCGACCACTCAGC	0.418																																						ENST00000367963.3																			2	Substitution - Missense(2)	p.S491L(1)|p.S559L(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.e11+1		monooxygenase, DBH-like 1							120.0	111.0	114.0					6																	132618927		2203	4300	6503	SO:0001630	splice_region_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132618927G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1677+1C>T	6.37:g.132618927G>A						MOXD1_ENST00000336749.3_Splice_Site_p.S491_splice	p.S559_splice	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	11	1794	-	Breast(56;0.0495)		559					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Splice_Site	SNP	ENST00000367963.3	37	c.1677_splice	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817598	0.70912	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.49432	0.78;0.78	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.33673	0.0871	M	0.70595	2.14	0.80722	D	1	P;P	0.52170	0.84;0.951	B;B	0.34590	0.054;0.186	T	0.33317	-0.9873	10	0.29301	T	0.29	-12.6328	18.8014	0.92018	0.0:0.0:1.0:0.0	.	559;491	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	L	559;491	ENSP00000356940:S559L;ENSP00000336998:S491L	ENSP00000336998:S491L	S	-	2	0	MOXD1	132660620	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.383000	0.66219	2.882000	0.98803	0.655000	0.94253	TCG		0.418	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	Missense_Mutation	29	44	0	0	0	1	0	29	44				
COX7B2	170712	broad.mit.edu	37	4	46737055	46737055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46737055G>A	ENST00000396533.1	-	4	405	c.155C>T	c.(154-156)gCt>gTt	p.A52V	COX7B2_ENST00000543208.1_Missense_Mutation_p.A51V|COX7B2_ENST00000302930.5_Missense_Mutation_p.A52V|COX7B2_ENST00000355591.3_Missense_Mutation_p.A52V			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	52						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						CACCCATGTAGCAACACAGAA	0.438																																						ENST00000396533.1																			0				large_intestine(1)|lung(4)	5						c.(154-156)gCt>gTt		cytochrome c oxidase subunit VIIb2							155.0	135.0	142.0					4																	46737055		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737055G>A	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.155C>T	4.37:g.46737055G>A	ENSP00000379784:p.Ala52Val					COX7B2_ENST00000302930.5_Missense_Mutation_p.A52V|COX7B2_ENST00000543208.1_Missense_Mutation_p.A51V|COX7B2_ENST00000355591.3_Missense_Mutation_p.A52V	p.A52V			Q8TF08	CX7B2_HUMAN			4	405	-			52					Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.155C>T	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	0.777	-0.763522	0.02996	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.37	-7.03	0.01584	Cytochrome C oxidase, subunit VIIB, domain (2);	0.562817	0.17399	N	0.175626	T	0.26846	0.0657	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.04840	-1.0923	9	0.38643	T	0.18	-9.9149	9.0279	0.36241	0.3635:0.1225:0.514:0.0	.	52	Q8TF08	CX7B2_HUMAN	V	52;52;52;51	ENSP00000347799:A52V;ENSP00000379784:A52V;ENSP00000305964:A52V;ENSP00000437439:A51V	ENSP00000305964:A52V	A	-	2	0	COX7B2	46431812	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.948000	0.03897	-1.505000	0.01807	-1.353000	0.01230	GCT		0.438	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		36	57	0	0	0	1	0	36	57				
VWCE	220001	broad.mit.edu	37	11	61026580	61026580	+	Missense_Mutation	SNP	G	G	A	rs367658932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61026580G>A	ENST00000335613.5	-	20	2821	c.2435C>T	c.(2434-2436)aCt>aTt	p.T812I	VWCE_ENST00000535710.1_Missense_Mutation_p.T277I	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	812						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGTAGGTAAAGTCTGTGTTTT	0.582																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2434-2436)aCt>aTt		von Willebrand factor C and EGF domains							54.0	56.0	56.0					11																	61026580		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026580G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2435C>T	11.37:g.61026580G>A	ENSP00000334186:p.Thr812Ile					VWCE_ENST00000535710.1_Missense_Mutation_p.T277I	p.T812I	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			20	2821	-			812					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2435C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952765	0.53293	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.71222	-0.55;3.32	4.73	3.79	0.43588	.	1.094420	0.07148	N	0.848578	T	0.69548	0.3123	L	0.46157	1.445	0.09310	N	1	P	0.44578	0.838	B	0.44315	0.446	T	0.57254	-0.7843	10	0.49607	T	0.09	.	11.0032	0.47618	0.0:0.1893:0.8107:0.0	.	812	Q96DN2	VWCE_HUMAN	I	812;277	ENSP00000334186:T812I;ENSP00000442570:T277I	ENSP00000334186:T812I	T	-	2	0	VWCE	60783156	0.005000	0.15991	0.002000	0.10522	0.042000	0.13812	1.480000	0.35464	1.067000	0.40740	0.655000	0.94253	ACT		0.582	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		13	20	0	0	0	1	0	13	20				
CCDC120	90060	broad.mit.edu	37	X	48921961	48921961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48921961G>A	ENST00000376396.3	+	6	604	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	CCDC120_ENST00000496529.2_Missense_Mutation_p.A129T|CCDC120_ENST00000603986.1_Missense_Mutation_p.A164T|CCDC120_ENST00000536628.2_Missense_Mutation_p.A117T|CCDC120_ENST00000422185.2_Missense_Mutation_p.A129T|CCDC120_ENST00000597275.1_Missense_Mutation_p.A129T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	129										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGCGGCGGCCGCCCGCCGCCT	0.667																																						ENST00000376396.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(385-387)Gcc>Acc		coiled-coil domain containing 120							4.0	5.0	5.0					X																	48921961		2074	3963	6037	SO:0001583	missense	90060						protein binding	g.chrX:48921961G>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.385G>A	X.37:g.48921961G>A	ENSP00000365577:p.Ala129Thr					CCDC120_ENST00000422185.2_Missense_Mutation_p.A129T|CCDC120_ENST00000603986.1_Missense_Mutation_p.A164T|CCDC120_ENST00000597275.1_Missense_Mutation_p.A129T|CCDC120_ENST00000536628.2_Missense_Mutation_p.A117T|CCDC120_ENST00000496529.2_Missense_Mutation_p.A129T	p.A129T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN			6	604	+			129					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.385G>A	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176088	0.78564	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.81	4.81	0.61882	.	0.000000	0.52532	D	0.000075	T	0.76572	0.4006	M	0.67569	2.06	0.39257	D	0.964144	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.993;0.996;0.996;0.993	T	0.80464	-0.1371	9	0.62326	D	0.03	-2.8039	13.9885	0.64350	0.0:0.0:1.0:0.0	.	117;164;117;129	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	T	129;129;117	.	ENSP00000365577:A129T	A	+	1	0	CCDC120	48808905	1.000000	0.71417	0.892000	0.35008	0.338000	0.28826	5.817000	0.69229	1.989000	0.58080	0.468000	0.43344	GCC		0.667	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		5	2	0	0	0	1	0	5	2				
HLA-DPB1	3115	broad.mit.edu	37	6	33054010	33054010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33054010G>A	ENST00000418931.2	+	5	888	c.772G>A	c.(772-774)Gca>Aca	p.A258T		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	258					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						ACGAGGATCTGCATAAACAGG	0.418																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(772-774)Gca>Aca		major histocompatibility complex, class II, DP beta 1							180.0	190.0	187.0					6																	33054010		2203	4300	6503	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33054010G>A		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.772G>A	6.37:g.33054010G>A	ENSP00000408146:p.Ala258Thr						p.A258T	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN			5	888	+			258					A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.772G>A	CCDS4765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.69|11.69	1.714518|1.714518	0.30413|0.30413	.|.	.|.	ENSG00000223865|ENSG00000223865	ENST00000418931;ENST00000411942|ENST00000422592;ENST00000416804	T|.	0.00635|.	6.06|.	2.86|2.86	-0.842|-0.842	0.10748|0.10748	.|.	65.296300|.	0.00397|.	U|.	0.000055|.	T|T	0.04407|0.04407	0.0121|0.0121	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.26602|.	0.154|.	B|.	0.28638|.	0.092|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|5	0.46703|.	T|.	0.11|.	.|.	3.5773|3.5773	0.07940|0.07940	0.0:0.4485:0.2138:0.3377|0.0:0.4485:0.2138:0.3377	.|.	258|.	P04440|.	DPB1_HUMAN|.	T|Y	258;228|68;230	ENSP00000408146:A258T|.	ENSP00000389210:A228T|.	A|C	+|+	1|2	0|0	HLA-DPB1|HLA-DPB1	33161988|33161988	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.250000|0.250000	0.25880|0.25880	-0.887000|-0.887000	0.04152|0.04152	-0.227000|-0.227000	0.09884|0.09884	-0.368000|-0.368000	0.07277|0.07277	GCA|TGC		0.418	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		5	67	0	0	0	1	0	5	67				
NUP205	23165	broad.mit.edu	37	7	135310033	135310033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135310033G>A	ENST00000285968.6	+	32	4627	c.4601G>A	c.(4600-4602)cGt>cAt	p.R1534H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1534					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAGATGACCGTACTTTGCAG	0.413																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4600-4602)cGt>cAt		nucleoporin 205kDa							145.0	135.0	138.0					7																	135310033		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135310033G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4601G>A	7.37:g.135310033G>A	ENSP00000285968:p.Arg1534His						p.R1534H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			32	4627	+			1534					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4601G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021588	0.35701	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.85	2.45	0.29901	.	0.480539	0.25750	N	0.028545	T	0.14098	0.0341	N	0.08118	0	0.80722	D	1	P	0.39157	0.662	B	0.37943	0.261	T	0.06180	-1.0841	10	0.42905	T	0.14	-7.3239	6.6514	0.22965	0.102:0.0:0.3286:0.5694	.	1534	Q92621	NU205_HUMAN	H	1534	ENSP00000285968:R1534H	ENSP00000285968:R1534H	R	+	2	0	NUP205	134960573	0.802000	0.28943	0.933000	0.37362	0.996000	0.88848	1.191000	0.32138	0.621000	0.30232	0.563000	0.77884	CGT		0.413	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			101	80	0	0	0	1	0	101	80				
GSTZ1	2954	broad.mit.edu	37	14	77795519	77795519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77795519G>T	ENST00000556627.1	+	5	446	c.315G>T	c.(313-315)caG>caT	p.Q105H	GSTZ1_ENST00000557053.1_Missense_Mutation_p.Q35H|GSTZ1_ENST00000554279.1_Missense_Mutation_p.Q118H|GSTZ1_ENST00000216465.5_Missense_Mutation_p.Q132H|GSTZ1_ENST00000557639.1_Missense_Mutation_p.Q77H|GSTZ1_ENST00000553586.1_Missense_Mutation_p.Q133H|GSTZ1_ENST00000361389.4_Missense_Mutation_p.Q77H|GSTZ1_ENST00000349555.3_Missense_Mutation_p.Q90H|GSTZ1_ENST00000393734.1_Missense_Mutation_p.Q77H			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	132	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)	p.Q77H(1)|p.Q132H(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCTGGGCCCAGAACGCCATCA	0.582																																						ENST00000393734.1																			2	Substitution - Missense(2)	p.Q77H(1)|p.Q132H(1)	lung(2)	lung(2)|prostate(1)	3						c.(229-231)caG>caT		glutathione S-transferase zeta 1	Glutathione(DB00143)						137.0	113.0	121.0					14																	77795519		2203	4300	6503	SO:0001583	missense	2954				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	g.chr14:77795519G>T	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.315G>T	14.37:g.77795519G>T	ENSP00000450487:p.Gln105His					GSTZ1_ENST00000557053.1_Missense_Mutation_p.Q35H|GSTZ1_ENST00000557639.1_Missense_Mutation_p.Q77H|GSTZ1_ENST00000556627.1_Missense_Mutation_p.Q105H|GSTZ1_ENST00000216465.5_Missense_Mutation_p.Q132H|GSTZ1_ENST00000361389.4_Missense_Mutation_p.Q77H|GSTZ1_ENST00000553586.1_Missense_Mutation_p.Q133H|GSTZ1_ENST00000349555.3_Missense_Mutation_p.Q90H|GSTZ1_ENST00000554279.1_Missense_Mutation_p.Q118H	p.Q77H	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	7	768	+			132			GST N-terminal.		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000556627.1	37	c.231G>T		.	.	.	.	.	.	.	.	.	.	G	10.34	1.321938	0.23994	.	.	ENSG00000100577	ENST00000216465;ENST00000361389;ENST00000554279;ENST00000557639;ENST00000349555;ENST00000556627;ENST00000557053;ENST00000393734;ENST00000553586	T;T;T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.76	3.92	0.45320	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.049852	0.85682	D	0.000000	T	0.02494	0.0076	L	0.39397	1.21	0.58432	D	0.999998	B;B	0.17038	0.02;0.018	B;B	0.26614	0.071;0.017	T	0.51725	-0.8669	10	0.22706	T	0.39	-0.3656	8.3962	0.32559	0.2415:0.0:0.7585:0.0	.	90;132	A6NED0;O43708	.;MAAI_HUMAN	H	132;77;118;77;90;105;35;77;133	ENSP00000216465:Q132H;ENSP00000354959:Q77H;ENSP00000452498:Q118H;ENSP00000451927:Q77H;ENSP00000314404:Q90H;ENSP00000450487:Q105H;ENSP00000451150:Q35H;ENSP00000377335:Q77H;ENSP00000451976:Q133H	ENSP00000216465:Q132H	Q	+	3	2	GSTZ1	76865272	0.943000	0.32029	1.000000	0.80357	0.741000	0.42261	1.222000	0.32515	1.440000	0.47531	0.655000	0.94253	CAG		0.582	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1	NM_145870		14	42	1	0	1.15088e-07	1	1.35723e-07	14	42				
CDHR3	222256	broad.mit.edu	37	7	105664969	105664969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105664969G>T	ENST00000317716.9	+	15	2299	c.2219G>T	c.(2218-2220)aGa>aTa	p.R740I	CDHR3_ENST00000542731.1_Missense_Mutation_p.R740I|CDHR3_ENST00000343407.5_Missense_Mutation_p.Q242H|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.R652I	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	740					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCCATCCACAGACACTGCCCC	0.547																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(2218-2220)aGa>aTa		cadherin-related family member 3							114.0	110.0	111.0					7																	105664969		2017	4196	6213	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105664969G>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2219G>T	7.37:g.105664969G>T	ENSP00000325954:p.Arg740Ile					CDHR3_ENST00000478080.1_Missense_Mutation_p.R652I|CDHR3_ENST00000317716.9_Missense_Mutation_p.R740I|CDHR3_ENST00000343407.5_Missense_Mutation_p.Q242H|CDHR3_ENST00000470188.1_3'UTR	p.R740I			Q6ZTQ4	CDHR3_HUMAN			15	2327	+			740					Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.2219G>T	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.845957|1.845957	0.32606|0.32606	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000343407;ENST00000466045|ENST00000542731;ENST00000317716;ENST00000478080	T;T|T;T;T	0.76186|0.56941	-1.0;-0.38|0.49;0.49;0.43	5.83|5.83	3.98|3.98	0.46160|0.46160	.|.	.|0.544981	.|0.20551	.|N	.|0.090110	T|T	0.50531|0.50531	0.1621|0.1621	M|M	0.63428|0.63428	1.95|1.95	0.23758|0.23758	N|N	0.996923|0.996923	B|P;P	0.20671|0.44816	0.047|0.844;0.844	B|B;B	0.20955|0.39217	0.032|0.294;0.294	T|T	0.41484|0.41484	-0.9506|-0.9506	9|10	0.36615|0.35671	T|T	0.2|0.21	-3.0292|-3.0292	15.8426|15.8426	0.78861|0.78861	0.0:0.3823:0.6177:0.0|0.0:0.3823:0.6177:0.0	.|.	240|727;740	Q6ZTQ4-2|B3KYA0;Q6ZTQ4	.|.;CDHR3_HUMAN	H|I	242;281|740;740;652	ENSP00000341510:Q242H;ENSP00000419017:Q281H|ENSP00000439766:R740I;ENSP00000325954:R740I;ENSP00000417771:R652I	ENSP00000341510:Q242H|ENSP00000325954:R740I	Q|R	+|+	3|2	2|0	CDHR3|CDHR3	105452205|105452205	0.958000|0.958000	0.32768|0.32768	0.993000|0.993000	0.49108|0.49108	0.455000|0.455000	0.32408|0.32408	0.465000|0.465000	0.22004|0.22004	0.758000|0.758000	0.33059|0.33059	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.547	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		12	40	1	0	0.00136819	1	0.00146042	12	40				
OTUD6B	51633	broad.mit.edu	37	8	92090721	92090721	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92090721G>A	ENST00000285420.4	+	4	642	c.543G>A	c.(541-543)caG>caA	p.Q181Q	OTUD6B_ENST00000404789.3_Silent_p.Q50Q	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	151	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAATTAAACAGATTCCATCTG	0.408																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(541-543)caG>caA		OTU domain containing 6B							72.0	65.0	67.0					8																	92090721		2202	4300	6502	SO:0001819	synonymous_variant	51633							g.chr8:92090721G>A		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.543G>A	8.37:g.92090721G>A						OTUD6B_ENST00000404789.3_Silent_p.Q50Q	p.Q181Q	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		4	642	+			151			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Silent	SNP	ENST00000285420.4	37	c.543G>A	CCDS6253.2																																																																																				0.408	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		3	4	0	0	0	1	0	3	4				
KCNA3	3738	broad.mit.edu	37	1	111216892	111216892	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111216892G>A	ENST00000369769.2	-	1	763	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	180					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TCTCCTCGGAGAAAATGTCGA	0.657																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(538-540)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							59.0	68.0	65.0					1																	111216892		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216892G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.540C>T	1.37:g.111216892G>A							p.F180F	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	763	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	180					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.540C>T	CCDS828.2																																																																																				0.657	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		6	119	0	0	0	1	0	6	119				
ZDHHC13	54503	broad.mit.edu	37	11	19167744	19167744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19167744C>T	ENST00000446113.2	+	3	311	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ZDHHC13_ENST00000399351.3_5'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	64					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AATTTTTGAACGATGTAAAGA	0.313																																						ENST00000446113.2																			0				NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(190-192)Cga>Tga		zinc finger, DHHC-type containing 13							73.0	63.0	66.0					11																	19167744		1812	4071	5883	SO:0001587	stop_gained	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19167744C>T	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.190C>T	11.37:g.19167744C>T	ENSP00000400113:p.Arg64*					ZDHHC13_ENST00000399351.3_5'UTR	p.R64*	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN			3	311	+			64					Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Nonsense_Mutation	SNP	ENST00000446113.2	37	c.190C>T	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587120	0.96578	.	.	ENSG00000177054	ENST00000446113	.	.	.	5.65	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5409	13.8746	0.63645	0.3814:0.6186:0.0:0.0	.	.	.	.	X	64	.	ENSP00000400113:R64X	R	+	1	2	ZDHHC13	19124320	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.311000	0.43717	1.468000	0.48064	0.563000	0.77884	CGA		0.313	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		6	9	0	0	0	1	0	6	9				
FAM91A1	157769	broad.mit.edu	37	8	124792766	124792766	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124792766T>C	ENST00000334705.7	+	8	933	c.687T>C	c.(685-687)gaT>gaC	p.D229D	FAM91A1_ENST00000521166.1_Silent_p.D229D	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	229										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAATATCTGATGACAGTTGTA	0.348																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(685-687)gaT>gaC		family with sequence similarity 91, member A1							123.0	110.0	114.0					8																	124792766		1844	4091	5935	SO:0001819	synonymous_variant	157769							g.chr8:124792766T>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.687T>C	8.37:g.124792766T>C						FAM91A1_ENST00000521166.1_Silent_p.D229D	p.D229D	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		8	933	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		229					B6YY23|Q658T5|Q8TE89	Silent	SNP	ENST00000334705.7	37	c.687T>C	CCDS6346.2																																																																																				0.348	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		3	32	0	0	0	1	0	3	32				
C8orf33	65265	broad.mit.edu	37	8	146278270	146278270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146278270G>A	ENST00000331434.6	+	2	419	c.305G>A	c.(304-306)aGc>aAc	p.S102N		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	102										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GTTCCCCTAAGCGCTGAGGCC	0.582																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(304-306)aGc>aAc		chromosome 8 open reading frame 33							16.0	18.0	17.0					8																	146278270		2202	4299	6501	SO:0001583	missense	65265							g.chr8:146278270G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.305G>A	8.37:g.146278270G>A	ENSP00000330361:p.Ser102Asn						p.S102N	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	2	419	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		102					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.305G>A	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	18.43	3.621511	0.66787	.	.	ENSG00000182307	ENST00000331434	.	.	.	2.57	1.68	0.24146	.	2.171870	0.02149	N	0.057805	T	0.60637	0.2284	M	0.63843	1.955	0.09310	N	1	D	0.67145	0.996	D	0.78314	0.991	T	0.21415	-1.0246	8	.	.	.	-2.2573	5.0681	0.14592	0.1696:0.0:0.8304:0.0	.	102	Q9H7E9	CH033_HUMAN	N	102	.	.	S	+	2	0	C8orf33	146249074	0.085000	0.21516	0.042000	0.18584	0.573000	0.36030	1.415000	0.34748	0.631000	0.30412	0.655000	0.94253	AGC		0.582	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		5	15	0	0	0	1	0	5	15				
NCOR1	9611	broad.mit.edu	37	17	15942969	15942969	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942969C>A	ENST00000268712.3	-	44	6991		c.e44-1		NCOR1_ENST00000395857.3_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site|AC002553.1_ENST00000442828.1_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTAACTGAGCCTGAAAGAGAA	0.448																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.e44-1		nuclear receptor corepressor 1							43.0	39.0	41.0					17																	15942969		2203	4300	6503	SO:0001630	splice_region_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942969C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6734-1G>T	17.37:g.15942969C>A						NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000395857.3_Splice_Site		NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	6991	-								B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	ENST00000268712.3	37		CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334012	0.81801	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8093	0.92052	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15883694	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	7.296000	0.78790	2.687000	0.91594	0.655000	0.94253	.		0.448	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	Intron	4	26	1	0	2.56e-06	1	2.9446e-06	4	26				
SCD5	79966	broad.mit.edu	37	4	83557907	83557907	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83557907T>C	ENST00000319540.4	-	4	958	c.639A>G	c.(637-639)ggA>ggG	p.G213G		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	213					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACAGACTCTCTCCCCAGATGT	0.527																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(637-639)ggA>ggG		stearoyl-CoA desaturase 5							95.0	83.0	87.0					4																	83557907		2203	4300	6503	SO:0001819	synonymous_variant	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83557907T>C	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.639A>G	4.37:g.83557907T>C							p.G213G	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			4	958	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	213					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	ENST00000319540.4	37	c.639A>G	CCDS34024.1																																																																																				0.527	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		6	27	0	0	0	1	0	6	27				
ANK2	287	broad.mit.edu	37	4	114158192	114158192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114158192C>T	ENST00000357077.4	+	6	586	c.533C>T	c.(532-534)gCg>gTg	p.A178V	ANK2_ENST00000506722.1_Missense_Mutation_p.A157V|ANK2_ENST00000394537.3_Missense_Mutation_p.A178V|ANK2_ENST00000264366.6_Missense_Mutation_p.A178V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	178					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A178E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAACCAGGCGGTGGCCATC	0.498																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.A178E(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(532-534)gCg>gTg		ankyrin 2, neuronal							144.0	139.0	141.0					4																	114158192		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114158192C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.533C>T	4.37:g.114158192C>T	ENSP00000349588:p.Ala178Val					ANK2_ENST00000264366.6_Missense_Mutation_p.A178V|ANK2_ENST00000394537.3_Missense_Mutation_p.A178V|ANK2_ENST00000506722.1_Missense_Mutation_p.A157V	p.A178V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	586	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	178					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.533C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058391	0.19987	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;T;T;T	0.61980	0.06;0.74;0.06;0.06;0.06;0.06;0.06;0.06	5.57	5.57	0.84162	Ankyrin repeat-containing domain (4);	0.000000	0.51477	D	0.000097	T	0.41789	0.1174	N	0.04148	-0.265	0.80722	D	1	P;B;P;B;B	0.49862	0.929;0.012;0.913;0.075;0.138	P;B;B;B;B	0.48270	0.572;0.014;0.436;0.017;0.036	T	0.47497	-0.9113	10	0.02654	T	1	.	13.1595	0.59537	0.0:0.9267:0.0:0.0733	.	178;178;178;157;157	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	157;157;157;193;178;178;178;157;43	ENSP00000423799:A157V;ENSP00000421011:A157V;ENSP00000421067:A157V;ENSP00000424722:A193V;ENSP00000378044:A178V;ENSP00000349588:A178V;ENSP00000264366:A178V;ENSP00000421059:A43V	ENSP00000264366:A178V	A	+	2	0	ANK2	114377641	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	5.894000	0.69806	2.775000	0.95449	0.650000	0.86243	GCG		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		36	73	0	0	0	1	0	36	73				
TENM1	10178	broad.mit.edu	37	X	123554644	123554644	+	Missense_Mutation	SNP	T	T	A	rs368416543		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123554644T>A	ENST00000371130.3	-	24	4541	c.4478A>T	c.(4477-4479)aAg>aTg	p.K1493M	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.K1500M	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1493					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGCTTTCATCTTTGCATCTTT	0.458																																						ENST00000422452.2																			0											c.(4498-4500)aAg>aTg		teneurin transmembrane protein 1							108.0	95.0	100.0					X																	123554644		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123554644T>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4478A>T	X.37:g.123554644T>A	ENSP00000360171:p.Lys1493Met					TENM1_ENST00000371130.3_Missense_Mutation_p.K1493M|STAG2_ENST00000469481.1_Intron	p.K1500M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					25	4562	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4499A>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487255	0.63962	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87179	-2.22;-2.19	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	0.066970	0.64402	D	0.000010	D	0.91219	0.7233	M	0.65498	2.005	0.53005	D	0.999961	D;D;D	0.67145	0.996;0.991;0.993	P;P;P	0.59703	0.862;0.687;0.758	D	0.91724	0.5391	10	0.56958	D	0.05	.	14.6544	0.68823	0.0:0.0:0.0:1.0	.	1499;1500;1493	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	M	1493;1500	ENSP00000360171:K1493M;ENSP00000403954:K1500M	ENSP00000360171:K1493M	K	-	2	0	ODZ1	123382325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.192000	0.58378	1.841000	0.53522	0.486000	0.48141	AAG		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		10	96	0	0	0	1	0	10	96				
ABCG8	64241	broad.mit.edu	37	2	44104939	44104939	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44104939T>C	ENST00000272286.2	+	13	1999	c.1909T>C	c.(1909-1911)Tcg>Ccg	p.S637P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	637	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGAGCTGGACTCGTACCCTCT	0.522											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1909-1911)Tcg>Ccg		ATP-binding cassette, sub-family G (WHITE), member 8							180.0	136.0	151.0					2																	44104939		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44104939T>C	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1909T>C	2.37:g.44104939T>C	ENSP00000272286:p.Ser637Pro		OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921		p.S637P	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			13	1999	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	637			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1909T>C	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121984	0.37436	.	.	ENSG00000143921	ENST00000272286	T	0.18016	2.24	5.48	3.02	0.34903	.	0.699048	0.14949	N	0.289054	T	0.36110	0.0955	M	0.77820	2.39	0.39491	D	0.96804	D;D	0.89917	1.0;0.999	D;D	0.69824	0.966;0.926	T	0.11916	-1.0568	10	0.23302	T	0.38	.	7.7199	0.28725	0.1317:0.0:0.2753:0.593	.	636;637	Q9H221-2;Q9H221	.;ABCG8_HUMAN	P	637	ENSP00000272286:S637P	ENSP00000272286:S637P	S	+	1	0	ABCG8	43958443	1.000000	0.71417	0.107000	0.21349	0.021000	0.10359	1.762000	0.38451	0.346000	0.23899	-0.316000	0.08728	TCG		0.522	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		25	36	0	0	0	1	0	25	36				
C20orf195	79025	broad.mit.edu	37	20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	rs117659219	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16878	0.0		0.002	False		,,,				2504	0.0					ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(652-654)gCg>gTg		chromosome 20 open reading frame 195		C	VAL/ALA	0,4406		0,0,2203	93.0	98.0	96.0		653	3.2	1.0	20	dbSNP_132	96	6,8592	5.0+/-18.6	0,6,4293	yes	missense	C20orf195	NM_024059.2	64	0,6,6496	TT,TC,CC		0.0698,0.0,0.0461	benign	218/319	62187669	6,12998	2203	4299	6502	SO:0001583	missense	79025							g.chr20:62187669C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.653C>T	20.37:g.62187669C>T	ENSP00000359116:p.Ala218Val					C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	745	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		218						Missense_Mutation	SNP	ENST00000370098.3	37	c.653C>T	CCDS13526.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.207	-0.381718	0.04966	0.0	6.98E-4	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	3.22	0.36961	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.731967	0.11933	N	0.515501	T	0.13030	0.0316	N	0.02539	-0.55	0.24278	N	0.995215	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.02654	T	1	-20.5053	9.1521	0.36969	0.0:0.1496:0.0:0.8504	.	218	Q9BVV2	CT195_HUMAN	V	218	.	ENSP00000359115:A218V	A	+	2	0	C20orf195	61658113	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	2.401000	0.44513	0.393000	0.25203	-0.302000	0.09304	GCG		0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		41	68	0	0	0	1	0	41	68				
DSP	1832	broad.mit.edu	37	6	7583670	7583670	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583670A>C	ENST00000379802.3	+	24	6516	c.6175A>C	c.(6175-6177)Att>Ctt	p.I2059L	DSP_ENST00000418664.2_Missense_Mutation_p.I1460L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2059	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGTGGTATAATTGATCCCCA	0.473																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6175-6177)Att>Ctt		desmoplakin							72.0	75.0	74.0					6																	7583670		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583670A>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6175A>C	6.37:g.7583670A>C	ENSP00000369129:p.Ile2059Leu					DSP_ENST00000418664.2_Missense_Mutation_p.I1460L	p.I2059L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6516	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2059			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6175A>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	8.696	0.908597	0.17833	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76839	-1.05;-1.05	5.09	5.09	0.68999	.	0.099914	0.42821	N	0.000655	T	0.75664	0.3880	M	0.68952	2.095	0.24587	N	0.993846	P;P	0.44734	0.842;0.636	P;B	0.51777	0.679;0.404	T	0.70421	-0.4876	10	0.38643	T	0.18	.	15.1516	0.72703	1.0:0.0:0.0:0.0	.	1507;2059	Q4LE79;P15924	.;DESP_HUMAN	L	2059;1460	ENSP00000369129:I2059L;ENSP00000396591:I1460L	ENSP00000369129:I2059L	I	+	1	0	DSP	7528669	1.000000	0.71417	0.670000	0.29842	0.992000	0.81027	6.123000	0.71614	2.036000	0.60181	0.533000	0.62120	ATT		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		9	81	0	0	0	1	0	9	81				
IST1	9798	broad.mit.edu	37	16	71956439	71956439	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71956439G>T	ENST00000378799.6	+	7	971	c.615G>T	c.(613-615)aaG>aaT	p.K205N	IST1_ENST00000544564.1_Missense_Mutation_p.K205N|IST1_ENST00000535424.1_Missense_Mutation_p.K218N|IST1_ENST00000606369.1_Missense_Mutation_p.K57N|IST1_ENST00000538850.1_Missense_Mutation_p.K57N|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000329908.8_Missense_Mutation_p.K205N|IST1_ENST00000541571.2_Missense_Mutation_p.K205N|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000378798.5_Missense_Mutation_p.K205N			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	205	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										ATGATGTGAAGAAAGGAGGCC	0.517																																						ENST00000378799.6																			0											c.(613-615)aaG>aaT		increased sodium tolerance 1 homolog (yeast)							135.0	129.0	131.0					16																	71956439		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71956439G>T	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.615G>T	16.37:g.71956439G>T	ENSP00000368076:p.Lys205Asn					IST1_ENST00000535424.1_Missense_Mutation_p.K218N|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000544564.1_Missense_Mutation_p.K205N|IST1_ENST00000329908.8_Missense_Mutation_p.K205N|IST1_ENST00000606369.1_Missense_Mutation_p.K57N|IST1_ENST00000538850.1_Missense_Mutation_p.K57N|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.K205N|IST1_ENST00000378798.5_Missense_Mutation_p.K205N	p.K205N	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN			7	971	+			205			Interaction with VPS37B.|Interaction with VTA1.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.615G>T	CCDS59272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.946534|2.946534	0.53186|0.53186	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000329908;ENST00000538850;ENST00000378798;ENST00000456820|ENST00000541848	.|.	.|.	.|.	5.54|5.54	4.39|4.39	0.52855|0.52855	.|.	0.041579|.	0.85682|.	D|.	0.000000|.	T|T	0.35128|0.35128	0.0921|0.0921	N|N	0.08118|0.08118	0|0	0.49798|0.49798	D|D	0.999828|0.999828	P;P;D;P|.	0.53462|.	0.947;0.763;0.96;0.947|.	P;P;P;P|.	0.51742|.	0.544;0.463;0.678;0.544|.	T|T	0.12915|0.12915	-1.0529|-1.0529	9|5	0.27082|.	T|.	0.32|.	-20.031|-20.031	10.8178|10.8178	0.46587|0.46587	0.1609:0.0:0.8391:0.0|0.1609:0.0:0.8391:0.0	.|.	205;205;205;218|.	P53990;P53990-2;P53990-3;A8KAH5|.	IST1_HUMAN;.;.;.|.	N|I	218;205;194;205;57;205;143|92	.|.	ENSP00000330408:K205N|.	K|R	+|+	3|2	2|0	KIAA0174|KIAA0174	70513940|70513940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.432000|5.432000	0.66514|0.66514	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.517	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		44	95	1	0	3.88204e-17	1	5.02929e-17	44	95				
PKD1L2	114780	broad.mit.edu	37	16	81232492	81232492	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232492T>C	ENST00000525539.1	-	0	1317				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAATGTTTCTGGAGATTGTA	0.557																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1318-1320)Aga>Gga		polycystic kidney disease 1-like 2							181.0	184.0	183.0					16																	81232492		1979	4140	6119			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232492T>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232492T>C						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA	p.R440G			Q7Z442	PK1L2_HUMAN			7	1317	-			440			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1318A>G		.	.	.	.	.	.	.	.	.	.	T	1.119	-0.655850	0.03480	.	.	ENSG00000166473	ENST00000337114	T	0.01252	5.1	4.98	-5.53	0.02552	Egg jelly receptor, REJ-like (1);	0.788570	0.11375	N	0.570463	T	0.00875	0.0029	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46638	-0.9177	9	0.14656	T	0.56	0.0021	9.0991	0.36658	0.0:0.4819:0.3086:0.2095	.	440;440	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	G	440	ENSP00000337397:R440G	ENSP00000337397:R440G	R	-	1	2	PKD1L2	79789993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.660000	0.05317	-1.709000	0.01399	-2.885000	0.00097	AGA		0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			25	145	0	0	0	1	0	25	145				
CASZ1	54897	broad.mit.edu	37	1	10699521	10699521	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10699521C>T	ENST00000377022.3	-	21	5075	c.4758G>A	c.(4756-4758)tcG>tcA	p.S1586S	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1586					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGTCCATCTGCGACATGCCCA	0.701																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4756-4758)tcG>tcA		castor zinc finger 1							17.0	24.0	22.0					1																	10699521		2065	4183	6248	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699521C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4758G>A	1.37:g.10699521C>T						RP4-734G22.3_ENST00000606802.1_RNA	p.S1586S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5075	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1586					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.4758G>A	CCDS41246.1																																																																																				0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	1	0	0	0	1	0	4	1				
STK40	83931	broad.mit.edu	37	1	36814358	36814358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36814358C>T	ENST00000373129.3	-	8	1088	c.682G>A	c.(682-684)Gac>Aac	p.D228N	STK40_ENST00000359297.2_Missense_Mutation_p.D228N|STK40_ENST00000373132.3_Missense_Mutation_p.D228N|STK40_ENST00000373130.3_Missense_Mutation_p.D233N	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TTCAGCAGGTCCCCCTCGCTC	0.557																																						ENST00000359297.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(682-684)Gac>Aac		serine/threonine kinase 40							108.0	84.0	92.0					1																	36814358		2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36814358C>T	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.682G>A	1.37:g.36814358C>T	ENSP00000362221:p.Asp228Asn					STK40_ENST00000373132.3_Missense_Mutation_p.D228N|STK40_ENST00000373129.3_Missense_Mutation_p.D228N|STK40_ENST00000373130.3_Missense_Mutation_p.D233N	p.D228N			Q8N2I9	STK40_HUMAN			6	689	-		Myeloproliferative disorder(586;0.0393)	228			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.682G>A	CCDS407.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395862	0.96009	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044717	0.85682	D	0.000000	T	0.72260	0.3438	L	0.49571	1.57	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.974;0.964;0.985	T	0.66272	-0.5965	10	0.13108	T	0.6	-25.5481	17.4927	0.87709	0.0:1.0:0.0:0.0	.	228;233;228	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	N	228;228;233;228	ENSP00000362221:D228N;ENSP00000352245:D228N;ENSP00000362222:D233N;ENSP00000362224:D228N	ENSP00000352245:D228N	D	-	1	0	STK40	36586945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.351000	0.79841	0.655000	0.94253	GAC		0.557	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		3	11	0	0	0	1	0	3	11				
GNB2	2783	broad.mit.edu	37	7	100276322	100276322	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100276322C>T	ENST00000303210.4	+	10	1403	c.921C>T	c.(919-921)gtC>gtT	p.V307V	GNB2_ENST00000419828.1_Silent_p.V207V|GNB2_ENST00000424361.1_Silent_p.V263V|GNB2_ENST00000436220.1_Silent_p.V263V|GNB2_ENST00000427895.1_Silent_p.V207V|GNB2_ENST00000393924.1_Silent_p.V307V|GNB2_ENST00000393926.1_Silent_p.V307V	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	307					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCACAGGAGTCCTCGCTGGCC	0.647																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(919-921)gtC>gtT		guanine nucleotide binding protein (G protein), beta polypeptide 2							59.0	61.0	60.0					7																	100276322		2203	4299	6502	SO:0001819	synonymous_variant	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276322C>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.921C>T	7.37:g.100276322C>T						GNB2_ENST00000424361.1_Silent_p.V263V|GNB2_ENST00000419828.1_Silent_p.V207V|GNB2_ENST00000393924.1_Silent_p.V307V|GNB2_ENST00000427895.1_Silent_p.V207V|GNB2_ENST00000393926.1_Silent_p.V307V|GNB2_ENST00000436220.1_Silent_p.V263V	p.V307V	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			10	1403	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	307					B3KPU1|P11016|P54312	Silent	SNP	ENST00000303210.4	37	c.921C>T	CCDS5703.1																																																																																				0.647	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		45	39	0	0	0	1	0	45	39				
AGFG1	3267	broad.mit.edu	37	2	228399560	228399560	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228399560G>T	ENST00000310078.8	+	8	1284		c.e8-1		AGFG1_ENST00000409171.1_Splice_Site|AGFG1_ENST00000373671.3_Splice_Site|AGFG1_ENST00000409979.2_Splice_Site|AGFG1_ENST00000409315.1_Intron	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTCGTTCCCAGGTGGTGATCA	0.408																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.e8-1		ArfGAP with FG repeats 1							127.0	122.0	124.0					2																	228399560		2203	4300	6503	SO:0001630	splice_region_variant	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228399560G>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1025-1G>T	2.37:g.228399560G>T						AGFG1_ENST00000373671.3_Splice_Site|AGFG1_ENST00000409979.2_Splice_Site|AGFG1_ENST00000409171.1_Splice_Site|AGFG1_ENST00000409315.1_Intron		NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			8	1284	+								B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Splice_Site	SNP	ENST00000310078.8	37		CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697245	0.68386	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000373671;ENST00000409171	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4415	0.87566	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGFG1	228107804	1.000000	0.71417	0.996000	0.52242	0.846000	0.48090	6.432000	0.73400	2.570000	0.86706	0.655000	0.94253	.		0.408	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	Intron	10	53	1	0	3.86212e-05	1	4.30401e-05	10	53				
TSEN34	79042	broad.mit.edu	37	19	54695428	54695428	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54695428C>A	ENST00000396383.1	+	2	524	c.213C>A	c.(211-213)gcC>gcA	p.A71A	TSEN34_ENST00000429671.2_Silent_p.A71A|MBOAT7_ENST00000431666.2_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_Silent_p.A71A|MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000396388.2_Silent_p.A71A|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	71					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTCAGCGCCCCGCGTCCAG	0.701																																					Esophageal Squamous(37;841 964 4869 42824)	ENST00000396383.1																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(211-213)gcC>gcA		TSEN34 tRNA splicing endonuclease subunit							18.0	19.0	19.0					19																	54695428		1820	3941	5761	SO:0001819	synonymous_variant	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54695428C>A	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.213C>A	19.37:g.54695428C>A						TSEN34_ENST00000429671.2_Silent_p.A71A|TSEN34_ENST00000302937.4_Silent_p.A71A|TSEN34_ENST00000396388.2_Silent_p.A71A	p.A71A			Q9BSV6	SEN34_HUMAN			2	524	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		71					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Silent	SNP	ENST00000396383.1	37	c.213C>A	CCDS42609.1																																																																																				0.701	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		14	23	1	0	3.27435e-08	1	3.90559e-08	14	23				
ALK	238	broad.mit.edu	37	2	29754876	29754876	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29754876C>T	ENST00000389048.3	-	4	1965	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	353	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCTGCAGGTGCCTGTGCACCG	0.592			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1057-1059)agG>agA		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						117.0	105.0	109.0					2																	29754876		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29754876C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1059G>A	2.37:g.29754876C>T						ALK_ENST00000431873.1_Intron	p.R353R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			4	1965	-	Acute lymphoblastic leukemia(172;0.155)		353			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1059G>A	CCDS33172.1																																																																																				0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		14	39	0	0	0	1	0	14	39				
CHAF1A	10036	broad.mit.edu	37	19	4432086	4432086	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4432086C>A	ENST00000301280.5	+	12	2186	c.2085C>A	c.(2083-2085)gaC>gaA	p.D695E	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	695	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACAGAGACTGCGCAGGCG	0.637								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2083-2085)gaC>gaA	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							80.0	70.0	74.0					19																	4432086		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4432086C>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2085C>A	19.37:g.4432086C>A	ENSP00000301280:p.Asp695Glu					CHAF1A_ENST00000587368.1_3'UTR	p.D695E	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2186	+		Hepatocellular(1079;0.137)	695			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2085C>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631631	0.29068	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25085	1.82	3.46	1.31	0.21738	.	.	.	.	.	T	0.15219	0.0367	N	0.22421	0.69	0.09310	N	1	P	0.43231	0.801	B	0.37780	0.258	T	0.13255	-1.0516	9	0.87932	D	0	-8.4729	6.7195	0.23323	0.0:0.6745:0.0:0.3255	.	695	Q13111	CAF1A_HUMAN	E	695	ENSP00000301280:D695E	ENSP00000301280:D695E	D	+	3	2	CHAF1A	4383086	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-1.046000	0.03525	0.752000	0.32923	0.655000	0.94253	GAC		0.637	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		5	50	1	0	0.184627	1	0.186383	5	50				
FLNB	2317	broad.mit.edu	37	3	58097997	58097997	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58097997C>T	ENST00000295956.4	+	18	2862	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	FLNB_ENST00000490882.1_Silent_p.I899I|FLNB_ENST00000429972.2_Silent_p.I899I|FLNB_ENST00000358537.3_Silent_p.I899I|FLNB_ENST00000357272.4_Silent_p.I899I|FLNB_ENST00000348383.5_Silent_p.I899I|FLNB_ENST00000493452.1_Silent_p.I730I|FLNB_ENST00000419752.2_Silent_p.I730I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	899					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGATATCATCGATAATTATG	0.547																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(2695-2697)atC>atT		filamin B, beta							102.0	101.0	101.0					3																	58097997		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58097997C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2697C>T	3.37:g.58097997C>T						FLNB_ENST00000429972.2_Silent_p.I899I|FLNB_ENST00000358537.3_Silent_p.I899I|FLNB_ENST00000490882.1_Silent_p.I899I|FLNB_ENST00000419752.2_Silent_p.I730I|FLNB_ENST00000348383.5_Silent_p.I899I|FLNB_ENST00000295956.4_Silent_p.I899I|FLNB_ENST00000493452.1_Silent_p.I730I	p.I899I			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	18	2862	+			899					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.2697C>T	CCDS2885.1																																																																																				0.547	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		34	57	0	0	0	1	0	34	57				
TRIP4	9325	broad.mit.edu	37	15	64687687	64687687	+	Missense_Mutation	SNP	C	C	A	rs567414133	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64687687C>A	ENST00000261884.3	+	3	422	c.362C>A	c.(361-363)cCt>cAt	p.P121H	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	121					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTACTGAACCTGACACGACT	0.413																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(361-363)cCt>cAt		thyroid hormone receptor interactor 4							132.0	124.0	126.0					15																	64687687		2203	4300	6503	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64687687C>A	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.362C>A	15.37:g.64687687C>A	ENSP00000261884:p.Pro121His					TRIP4_ENST00000559565.1_3'UTR	p.P121H	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN			3	422	+			121					B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.362C>A	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891712	0.33442	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.29	2.36	0.29203	.	0.447157	0.27691	N	0.018254	T	0.45538	0.1347	M	0.63843	1.955	0.37449	D	0.914754	P	0.50272	0.933	B	0.39971	0.315	T	0.51639	-0.8680	9	0.62326	D	0.03	-17.7977	8.1462	0.31113	0.1289:0.734:0.0:0.1371	.	121	Q15650	TRIP4_HUMAN	H	121	.	ENSP00000261884:P121H	P	+	2	0	TRIP4	62474740	0.900000	0.30661	0.992000	0.48379	0.362000	0.29581	0.497000	0.22514	0.310000	0.22990	-0.143000	0.13931	CCT		0.413	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		16	101	1	0	2.35188e-11	1	2.93101e-11	16	101				
GPR179	440435	broad.mit.edu	37	17	36493548	36493548	+	Missense_Mutation	SNP	C	C	T	rs189931659	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36493548C>T	ENST00000342292.4	-	3	979	c.959G>A	c.(958-960)cGa>cAa	p.R320Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	320					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAATCCAGGTCGGCAGCGGCA	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		17892	0.0		0.003	False		,,,				2504	0.0					ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(958-960)cGa>cAa		G protein-coupled receptor 179		C	GLN/ARG	5,3937		0,5,1966	48.0	58.0	55.0		959	3.1	1.0	17		55	33,8255		0,33,4111	yes	missense	GPR179	NM_001004334.2	43	0,38,6077	TT,TC,CC		0.3982,0.1268,0.3107	possibly-damaging	320/2368	36493548	38,12192	1971	4144	6115	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36493548C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.959G>A	17.37:g.36493548C>T	ENSP00000345060:p.Arg320Gln						p.R320Q	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			3	979	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	320						Missense_Mutation	SNP	ENST00000342292.4	37	c.959G>A	CCDS42308.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	15.78	2.933836	0.52866	0.001268	0.003982	ENSG00000188888	ENST00000342292	T	0.55760	0.5	5.12	3.1	0.35709	Epidermal growth factor-like (1);	0.216150	0.30556	N	0.009376	T	0.57344	0.2047	L	0.54323	1.7	0.32879	D	0.510239	D	0.89917	1.0	D	0.63033	0.91	T	0.62558	-0.6829	10	0.32370	T	0.25	-11.9091	4.699	0.12818	0.1733:0.6508:0.0:0.1759	.	320	Q6PRD1	GP179_HUMAN	Q	320	ENSP00000345060:R320Q	ENSP00000345060:R320Q	R	-	2	0	GPR179	33747074	0.046000	0.20272	0.982000	0.44146	0.983000	0.72400	-0.035000	0.12205	0.712000	0.32039	-0.224000	0.12420	CGA		0.557	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			14	19	0	0	0	1	0	14	19				
ZNF547	284306	broad.mit.edu	37	19	57888834	57888834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888834G>T	ENST00000282282.3	+	4	640	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGAAAGCCTTTAGCCA	0.428																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(490-492)Gcc>Tcc		zinc finger protein 547							61.0	62.0	62.0					19																	57888834		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57888834G>T	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.490G>T	19.37:g.57888834G>T	ENSP00000282282:p.Ala164Ser					AC003002.4_ENST00000597658.1_Intron	p.A164S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	640	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	164					A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.490G>T	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	5.700	0.313775	0.10789	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.27890	1.64	1.77	0.717	0.18196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16471	0.0396	N	0.17474	0.49	0.22185	N	0.999304	P;P;B	0.41624	0.582;0.757;0.059	B;B;B	0.40565	0.093;0.333;0.041	T	0.11155	-1.0599	9	0.36615	T	0.2	.	3.8684	0.09025	0.1566:0.0:0.6085:0.2349	.	164;164;164	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	S	164	ENSP00000282282:A164S	ENSP00000282282:A164S	A	+	1	0	ZNF547	62580646	0.000000	0.05858	0.804000	0.32291	0.341000	0.28922	-1.572000	0.02136	0.313000	0.23062	0.491000	0.48974	GCC		0.428	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		3	29	1	0	6.4e-05	1	7.11719e-05	3	29				
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5755-5757)gCg>gTg		ankyrin repeat domain 11							19.0	24.0	22.0					16																	89347194		2159	4237	6396	SO:0001583	missense	29123					nucleus		g.chr16:89347194G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5756C>T	16.37:g.89347194G>A	ENSP00000301030:p.Ala1919Val					ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6216	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1919			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5756C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.851632	0.71719	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	.	0.105490	0.37715	N	0.001964	T	0.48466	0.1501	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.51601	-0.8685	10	0.62326	D	0.03	.	17.8938	0.88880	0.0:0.0:1.0:0.0	.	1919	Q6UB99	ANR11_HUMAN	V	1919	ENSP00000301030:A1919V;ENSP00000367581:A1919V	ENSP00000301030:A1919V	A	-	2	0	ANKRD11	87874695	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	5.064000	0.64338	2.301000	0.77427	0.450000	0.29827	GCG		0.677	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		15	31	0	0	0	1	0	15	31				
CBX4	8535	broad.mit.edu	37	17	77808613	77808613	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808613C>T	ENST00000269397.4	-	5	1005	c.828G>A	c.(826-828)gcG>gcA	p.A276A		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	276	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGATCTTCACCGCCTGCATGC	0.592											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(826-828)gcG>gcA		chromobox homolog 4							192.0	169.0	177.0					17																	77808613		2203	4299	6502	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808613C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.828G>A	17.37:g.77808613C>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.A276A	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1005	-			276			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.828G>A	CCDS32758.1																																																																																				0.592	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		66	95	0	0	0	1	0	66	95				
OR52R1	119695	broad.mit.edu	37	11	4825600	4825600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4825600G>A	ENST00000356069.2	-	1	10	c.11C>T	c.(10-12)gCt>gTt	p.A4V	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A83V|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCCCTGAAGCCAGCACCAT	0.468																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(247-249)gCt>gTt		olfactory receptor, family 52, subfamily R, member 1							104.0	93.0	97.0					11																	4825600		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825600G>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.11C>T	11.37:g.4825600G>A	ENSP00000348368:p.Ala4Val					MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A4V|MMP26_ENST00000380390.1_Intron	p.A83V			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	247	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	4					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.248C>T	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363637	0.24684	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00375	9.74;7.71	5.46	2.55	0.30701	.	1.566070	0.04258	N	0.339813	T	0.00144	0.0004	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28235	-1.0050	10	0.15952	T	0.53	.	9.6218	0.39725	0.1372:0.0:0.744:0.1188	.	4	Q8NGF1	O52R1_HUMAN	V	4;83	ENSP00000348368:A4V;ENSP00000369742:A83V	ENSP00000348368:A4V	A	-	2	0	OR52R1	4782176	0.013000	0.17824	0.000000	0.03702	0.073000	0.16967	1.675000	0.37555	0.134000	0.18681	-0.813000	0.03139	GCT		0.468	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		39	49	0	0	0	1	0	39	49				
GRM6	2916	broad.mit.edu	37	5	178416035	178416035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178416035G>A	ENST00000517717.1	-	7	1293	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.H419Y			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	419					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGCCTGGTGCATGCTGTGG	0.627																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1255-1257)Cac>Tac		glutamate receptor, metabotropic 6							108.0	94.0	99.0					5																	178416035		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416035G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1255C>T	5.37:g.178416035G>A	ENSP00000430767:p.His419Tyr					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.H419Y	p.H419Y	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	6	1433	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	419						Missense_Mutation	SNP	ENST00000517717.1	37	c.1255C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570928	0.86542	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83335	-1.71;-1.71	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.88901	0.6563	M	0.61703	1.905	0.58432	D	0.999991	D;P	0.61080	0.989;0.725	D;P	0.75020	0.985;0.653	D	0.86246	0.1646	9	0.25106	T	0.35	.	16.4125	0.83723	0.0:0.0:1.0:0.0	.	459;419	E7EX65;O15303	.;GRM6_HUMAN	Y	459;419;419	ENSP00000231188:H419Y;ENSP00000430767:H419Y	ENSP00000231188:H419Y	H	-	1	0	GRM6	178348641	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.631000	0.74277	2.550000	0.86006	0.555000	0.69702	CAC		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			6	12	0	0	0	1	0	6	12				
HNRNPH2	3188	broad.mit.edu	37	X	100668321	100668321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100668321G>A	ENST00000316594.5	+	2	1423	c.1345G>A	c.(1345-1347)Gct>Act	p.A449T		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	449					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GTCAAACCTTGCTTAGGTAGA	0.428																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(1345-1347)Gct>Act		heterogeneous nuclear ribonucleoprotein H2 (H')							135.0	130.0	132.0					X																	100668321		2178	4278	6456	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100668321G>A	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1345G>A	X.37:g.100668321G>A	ENSP00000361927:p.Ala449Thr						p.A449T	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	1423	+			449					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.1345G>A	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355163	0.41700	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.11063	2.81	4.34	4.34	0.51931	.	0.354454	0.28796	N	0.014107	T	0.12008	0.0292	N	0.08118	0	0.24814	N	0.992623	P	0.43392	0.805	P	0.57776	0.827	T	0.06197	-1.0840	10	0.72032	D	0.01	-12.263	8.8402	0.35137	0.0:0.0:0.7767:0.2233	.	449	P55795	HNRH2_HUMAN	T	404;449	ENSP00000361927:A449T	ENSP00000361927:A449T	A	+	1	0	HNRNPH2	100554977	0.990000	0.36364	0.954000	0.39281	0.995000	0.86356	2.522000	0.45572	2.143000	0.66587	0.513000	0.50165	GCT		0.428	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		15	182	0	0	0	1	0	15	182				
ESRRA	2101	broad.mit.edu	37	11	64081741	64081741	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64081741G>A	ENST00000405666.1	+	4	707	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.R158Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R158Q	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	158					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGGGTGGGCGGCAGAAGTAC	0.682																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(472-474)cGg>cAg		estrogen-related receptor alpha							20.0	29.0	26.0					11																	64081741		1990	4155	6145	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64081741G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.473G>A	11.37:g.64081741G>A	ENSP00000384851:p.Arg158Gln					ESRRA_ENST00000000442.6_Missense_Mutation_p.R158Q|ESRRA_ENST00000406310.1_Missense_Mutation_p.R158Q	p.R158Q			P11474	ERR1_HUMAN			4	707	+			158					Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.473G>A	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453150	0.84209	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	D;D;T;D	0.96427	-4.01;-4.01;0.43;-4.01	4.14	4.14	0.48551	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	M	0.84773	2.715	0.80722	D	1	P;D	0.89917	0.744;1.0	B;D	0.70716	0.329;0.97	D	0.97964	1.0339	10	0.51188	T	0.08	.	14.3272	0.66528	0.0:0.0:1.0:0.0	.	158;158	P11474-2;P11474	.;ERR1_HUMAN	Q	158;158;15;158	ENSP00000385971:R158Q;ENSP00000000442:R158Q;ENSP00000439896:R15Q;ENSP00000384851:R158Q	ENSP00000000442:R158Q	R	+	2	0	ESRRA	63838317	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.066000	0.93949	2.309000	0.77851	0.462000	0.41574	CGG		0.682	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		12	8	0	0	0	1	0	12	8				
ADCY9	115	broad.mit.edu	37	16	4027578	4027578	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4027578G>A	ENST00000294016.3	-	9	3271	c.2733C>T	c.(2731-2733)aaC>aaT	p.N911N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	911					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGGCAGAAGTTACAGTAGT	0.662																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2731-2733)aaC>aaT		adenylate cyclase 9							48.0	39.0	43.0					16																	4027578		2194	4299	6493	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4027578G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2733C>T	16.37:g.4027578G>A							p.N911N	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			9	3271	-			911					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.2733C>T	CCDS32382.1																																																																																				0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			8	8	0	0	0	1	0	8	8				
CSPG5	10675	broad.mit.edu	37	3	47614279	47614279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47614279C>T	ENST00000383738.2	-	3	3377	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	CSPG5_ENST00000264723.4_Missense_Mutation_p.G427S|CSPG5_ENST00000456150.1_Missense_Mutation_p.G289S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	427					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCAGCCGAGCCCACGGCCACG	0.582																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1279-1281)Ggc>Agc		chondroitin sulfate proteoglycan 5 (neuroglycan C)							101.0	79.0	86.0					3																	47614279		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47614279C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1279G>A	3.37:g.47614279C>T	ENSP00000373244:p.Gly427Ser					CSPG5_ENST00000456150.1_Missense_Mutation_p.G289S|CSPG5_ENST00000264723.4_Missense_Mutation_p.G427S	p.G427S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	3377	-			427					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.1279G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734184	0.96865	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.35048	1.41;1.39;1.33	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.20401	0.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.52298	-0.8594	10	0.66056	D	0.02	-17.8264	17.2993	0.87177	0.0:1.0:0.0:0.0	.	427;427	O95196;O95196-2	CSPG5_HUMAN;.	S	289;427;427	ENSP00000392096:G289S;ENSP00000373244:G427S;ENSP00000264723:G427S	ENSP00000264723:G427S	G	-	1	0	CSPG5	47589283	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	7.197000	0.77814	2.413000	0.81919	0.561000	0.74099	GGC		0.582	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		16	27	0	0	0	1	0	16	27				
DMPK	1760	broad.mit.edu	37	19	46280785	46280785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46280785G>A	ENST00000291270.4	-	8	1071	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DMPK_ENST00000447742.2_Missense_Mutation_p.R316W|DMPK_ENST00000600757.1_Missense_Mutation_p.R326W|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000458663.2_Missense_Mutation_p.R316W|DMPK_ENST00000354227.5_Missense_Mutation_p.R316W|DMPK_ENST00000343373.4_Missense_Mutation_p.R326W	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CACAGCAACCGCTGAATGAAG	0.652																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(976-978)Cgg>Tgg		dystrophia myotonica-protein kinase							40.0	44.0	42.0					19																	46280785		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46280785G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.946C>T	19.37:g.46280785G>A	ENSP00000291270:p.Arg316Trp					DMPK_ENST00000354227.5_Missense_Mutation_p.R316W|DMPK_ENST00000291270.4_Missense_Mutation_p.R316W|DMPK_ENST00000447742.2_Missense_Mutation_p.R316W|DMPK_ENST00000458663.2_Missense_Mutation_p.R316W|DMPK_ENST00000343373.4_Missense_Mutation_p.R326W	p.R326W			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	7	1663	-		Ovarian(192;0.0308)|all_neural(266;0.112)	326			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.976C>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009255	0.54361	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.63	-1.89	0.07689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.709289	0.12112	N	0.498401	T	0.71384	0.3333	M	0.62088	1.915	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;0.997;0.997;1.0;0.996;0.998	P;P;P;P;P;P;P;P	0.59889	0.84;0.676;0.788;0.829;0.816;0.865;0.713;0.766	T	0.63134	-0.6705	10	0.87932	D	0	.	7.8585	0.29495	0.0:0.1633:0.3803:0.4563	.	316;316;342;316;316;316;363;326	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	W	316;342;316;316;316;326;326;316	ENSP00000401753:R316W;ENSP00000291270:R316W;ENSP00000413417:R316W;ENSP00000345997:R326W;ENSP00000346168:R316W	ENSP00000291270:R316W	R	-	1	2	DMPK	50972625	0.000000	0.05858	0.407000	0.26434	0.297000	0.27493	-0.720000	0.04969	-0.258000	0.09446	0.561000	0.74099	CGG		0.652	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		27	30	0	0	0	1	0	27	30				
TRO	7216	broad.mit.edu	37	X	54955239	54955239	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54955239C>T	ENST00000173898.7	+	12	2194	c.2082C>T	c.(2080-2082)ggC>ggT	p.G694G	TRO_ENST00000375022.4_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.G297G|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.G225G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	694					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGAGTTAGGCGATGATGCTC	0.517																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2080-2082)ggC>ggT		trophinin							60.0	62.0	62.0					X																	54955239		2071	4199	6270	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955239C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2082C>T	X.37:g.54955239C>T						TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G297G|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.G225G	p.G694G	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2194	+			694					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.2082C>T	CCDS43959.1																																																																																				0.517	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		8	13	0	0	0	1	0	8	13				
ANKEF1	63926	broad.mit.edu	37	20	10023883	10023883	+	Missense_Mutation	SNP	C	C	A	rs6118865	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10023883C>A	ENST00000378380.3	+	3	789	c.460C>A	c.(460-462)Ctt>Att	p.L154I	ANKEF1_ENST00000378392.1_Missense_Mutation_p.L154I|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	154							calcium ion binding (GO:0005509)										GCCAATATTCCTTAGAGCTTG	0.418																																						ENST00000378380.3																			0											c.(460-462)Ctt>Att		ankyrin repeat and EF-hand domain containing 1							192.0	169.0	177.0					20																	10023883		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10023883C>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.460C>A	20.37:g.10023883C>A	ENSP00000367631:p.Leu154Ile					SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.L154I|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	p.L154I	NM_198798.1	NP_942093.1					3	789	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.460C>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346490	0.41599	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.53206	0.63;0.63	5.63	4.69	0.59074	Ankyrin repeat-containing domain (4);	0.121846	0.56097	D	0.000025	T	0.28797	0.0714	N	0.11284	0.12	0.41479	D	0.988157	P	0.46859	0.885	P	0.44696	0.458	T	0.05699	-1.0869	9	.	.	.	-0.5444	7.3499	0.26684	0.0:0.7163:0.139:0.1447	.	154	Q9NU02	ANKR5_HUMAN	I	154	ENSP00000367644:L154I;ENSP00000367631:L154I	.	L	+	1	0	ANKRD5	9971883	1.000000	0.71417	0.868000	0.34077	0.824000	0.46624	1.639000	0.37176	1.379000	0.46325	0.655000	0.94253	CTT		0.418	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		11	94	1	0	3.86212e-05	1	4.30401e-05	11	94				
SLC22A14	9389	broad.mit.edu	37	3	38347805	38347805	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38347805C>A	ENST00000273173.4	+	1	379	c.288C>A	c.(286-288)ccC>ccA	p.P96P	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Silent_p.P96P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	96					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCAGAAGCCCTATTGCAATA	0.547																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(286-288)ccC>ccA		solute carrier family 22, member 14							110.0	97.0	102.0					3																	38347805		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38347805C>A	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.288C>A	3.37:g.38347805C>A						SLC22A14_ENST00000448498.1_Silent_p.P96P	p.P96P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	1	379	+			96					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.288C>A	CCDS2677.1																																																																																				0.547	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		7	70	1	0	0.248553	1	0.25002	7	70				
FBXO38	81545	broad.mit.edu	37	5	147820753	147820753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147820753C>T	ENST00000340253.5	+	21	3509	c.3341C>T	c.(3340-3342)gCa>gTa	p.A1114V	FBXO38_ENST00000394370.3_Missense_Mutation_p.A1039V|FBXO38_ENST00000296701.6_Missense_Mutation_p.A869V|FBXO38_ENST00000513826.1_Missense_Mutation_p.A869V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1114					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACGAGCTGCAGAGCCCAAC	0.428																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(3340-3342)gCa>gTa		F-box protein 38							229.0	190.0	203.0					5																	147820753		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147820753C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3341C>T	5.37:g.147820753C>T	ENSP00000342023:p.Ala1114Val					FBXO38_ENST00000513826.1_Missense_Mutation_p.A869V|FBXO38_ENST00000296701.6_Missense_Mutation_p.A869V|FBXO38_ENST00000394370.3_Missense_Mutation_p.A1039V	p.A1114V			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	3509	+			1114					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.3341C>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.825348	0.90955	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.46819	0.86;1.03;0.97;1.03	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	L	0.34521	1.04	0.41178	D	0.986216	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.85130	0.971;0.994;0.997	T	0.62854	-0.6766	10	0.72032	D	0.01	-15.1259	18.3358	0.90287	0.0:1.0:0.0:0.0	.	869;1039;1114	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	V	1114;869;1039;869	ENSP00000342023:A1114V;ENSP00000296701:A869V;ENSP00000377895:A1039V;ENSP00000426410:A869V	ENSP00000296701:A869V	A	+	2	0	FBXO38	147800946	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.376000	0.79658	2.750000	0.94351	0.591000	0.81541	GCA		0.428	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		4	73	0	0	0	1	0	4	73				
TANC2	26115	broad.mit.edu	37	17	61498030	61498030	+	Missense_Mutation	SNP	C	C	T	rs373436341		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498030C>T	ENST00000424789.2	+	25	4691	c.4687C>T	c.(4687-4689)Cgc>Tgc	p.R1563C	TANC2_ENST00000389520.4_Missense_Mutation_p.R1573C|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1563					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCACCCGTGCGCTATCAGCA	0.577																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4687-4689)Cgc>Tgc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2		C	CYS/ARG	0,3916		0,0,1958	40.0	41.0	40.0		4687	4.5	1.0	17		40	1,8313		0,1,4156	no	missense	TANC2	NM_025185.3	180	0,1,6114	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	1563/1991	61498030	1,12229	1958	4157	6115	SO:0001583	missense	26115						binding	g.chr17:61498030C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4687C>T	17.37:g.61498030C>T	ENSP00000387593:p.Arg1563Cys					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1573C	p.R1563C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4691	+			1563					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.4687C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905343	0.52333	0.0	1.2E-4	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70399	-0.48;-0.48	5.5	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.47470	0.548	T	0.68804	-0.5312	10	0.87932	D	0	.	13.0051	0.58699	0.2827:0.7173:0.0:0.0	.	1563	Q9HCD6	TANC2_HUMAN	C	1573;1563	ENSP00000374171:R1573C;ENSP00000387593:R1563C	ENSP00000374171:R1573C	R	+	1	0	TANC2	58851762	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.574000	0.60900	2.600000	0.87896	0.561000	0.74099	CGC		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			14	21	0	0	0	1	0	14	21				
ABCA6	23460	broad.mit.edu	37	17	67099080	67099080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67099080G>T	ENST00000284425.2	-	21	2944	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	924					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGATGCTTCAGTGATTTTATA	0.284																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2770-2772)Ctg>Atg		ATP-binding cassette, sub-family A (ABC1), member 6							52.0	49.0	50.0					17																	67099080		2202	4294	6496	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67099080G>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2770C>A	17.37:g.67099080G>T	ENSP00000284425:p.Leu924Met						p.L924M	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			21	2944	-	Breast(10;5.65e-12)		924					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2770C>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019144	0.19355	.	.	ENSG00000154262	ENST00000284425	D	0.87412	-2.25	4.76	-2.19	0.07015	.	0.194671	0.24796	N	0.035538	D	0.89357	0.6692	M	0.80183	2.485	0.37119	D	0.900747	D	0.76494	0.999	D	0.74348	0.983	D	0.84428	0.0575	10	0.52906	T	0.07	.	0.871	0.01214	0.2995:0.292:0.2596:0.1489	.	924	Q8N139	ABCA6_HUMAN	M	924	ENSP00000284425:L924M	ENSP00000284425:L924M	L	-	1	2	ABCA6	64610675	0.485000	0.25972	0.255000	0.24374	0.046000	0.14306	-0.038000	0.12144	-0.184000	0.10567	-0.321000	0.08615	CTG		0.284	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		3	20	1	0	1	1	1	3	20				
VPS33A	65082	broad.mit.edu	37	12	122716899	122716899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716899C>T	ENST00000267199.4	-	13	1797	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R523Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	562					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGAGAGAAATCGCAGGGCAGC	0.428																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1684-1686)cGa>cAa		vacuolar protein sorting 33 homolog A (S. cerevisiae)							127.0	133.0	131.0					12																	122716899		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122716899C>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1685G>A	12.37:g.122716899C>T	ENSP00000267199:p.Arg562Gln					RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R523Q	p.R562Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	13	1797	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		562					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.1685G>A	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102473	0.97286	.	.	ENSG00000139719	ENST00000267199	T	0.75704	-0.96	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.90631	0.7062	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91779	0.5434	10	0.87932	D	0	-20.4596	20.6634	0.99662	0.0:1.0:0.0:0.0	.	562	Q96AX1	VP33A_HUMAN	Q	562	ENSP00000267199:R562Q	ENSP00000446319:R523Q	R	-	2	0	VPS33A	121282852	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.786000	0.85741	2.894000	0.99253	0.655000	0.94253	CGA		0.428	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			54	86	0	0	0	1	0	54	86				
OR4A16	81327	broad.mit.edu	37	11	55110872	55110872	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55110872C>T	ENST00000314721.2	+	1	246	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTACTTGTCACTTATGGATGC	0.448																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(196-198)Ctt>Ttt		olfactory receptor, family 4, subfamily A, member 16							187.0	172.0	177.0					11																	55110872		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110872C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.196C>T	11.37:g.55110872C>T	ENSP00000325128:p.Leu66Phe						p.L66F	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	246	+			66					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.196C>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.938658	0.00052	.	.	ENSG00000181961	ENST00000314721	T	0.00363	7.82	2.57	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.01297	-0.9	0.27641	N	0.947718	B	0.11235	0.004	B	0.16722	0.016	T	0.27123	-1.0083	9	0.02654	T	1	.	4.5838	0.12271	0.0:0.8118:0.0:0.1882	.	66	Q8NH70	O4A16_HUMAN	F	66	ENSP00000325128:L66F	ENSP00000325128:L66F	L	+	1	0	OR4A16	54867448	0.000000	0.05858	0.996000	0.52242	0.016000	0.09150	-2.128000	0.01314	1.445000	0.47624	0.423000	0.28283	CTT		0.448	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		11	165	0	0	0	1	0	11	165				
ERCC6L	54821	broad.mit.edu	37	X	71425010	71425010	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71425010G>T	ENST00000334463.3	-	2	3742	c.3607C>A	c.(3607-3609)Ctt>Att	p.L1203I	ERCC6L_ENST00000373657.1_Missense_Mutation_p.L1080I|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1203					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CGCTTTACAAGAGTCTCATAG	0.463																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3238-3240)Ctt>Att		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							88.0	76.0	80.0					X																	71425010		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425010G>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3607C>A	X.37:g.71425010G>T	ENSP00000334675:p.Leu1203Ile					ERCC6L_ENST00000334463.3_Missense_Mutation_p.L1203I|PIN4_ENST00000423432.2_Intron	p.L1080I			Q2NKX8	ERC6L_HUMAN			3	3840	-	Renal(35;0.156)		1203					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.3238C>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408528	0.83340	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.77750	-1.12;-1.12	5.49	5.49	0.81192	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.86723	0.6001	M	0.66939	2.045	0.44366	D	0.997268	D	0.76494	0.999	D	0.80764	0.994	D	0.88099	0.2818	9	0.87932	D	0	-12.9184	15.6525	0.77108	0.0:0.0:1.0:0.0	.	1203	Q2NKX8	ERC6L_HUMAN	I	1080;1203	ENSP00000362761:L1080I;ENSP00000334675:L1203I	ENSP00000334675:L1203I	L	-	1	0	ERCC6L	71341735	1.000000	0.71417	0.747000	0.31113	0.742000	0.42306	5.141000	0.64814	2.292000	0.77174	0.544000	0.68410	CTT		0.463	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		6	66	1	0	0.0215528	1	0.0221649	6	66				
PDP2	57546	broad.mit.edu	37	16	66918675	66918675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66918675C>T	ENST00000311765.2	+	2	822	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	163					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTGGCAGTGTCCCTGATGTCC	0.547																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(487-489)tCc>tTc		pyruvate dehyrogenase phosphatase catalytic subunit 2							91.0	67.0	75.0					16																	66918675		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918675C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.488C>T	16.37:g.66918675C>T	ENSP00000309548:p.Ser163Phe					PDP2_ENST00000568720.1_Intron	p.S163F	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	822	+		Ovarian(137;0.0563)	163					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.488C>T	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549160	0.86127	.	.	ENSG00000172840	ENST00000311765	T	0.09538	2.97	5.74	5.74	0.90152	Protein phosphatase 2C-like (4);	0.060639	0.64402	D	0.000003	T	0.38746	0.1052	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.05716	-1.0868	10	0.56958	D	0.05	-11.9595	20.2924	0.98543	0.0:1.0:0.0:0.0	.	163	Q9P2J9	PDP2_HUMAN	F	163	ENSP00000309548:S163F	ENSP00000309548:S163F	S	+	2	0	PDP2	65476176	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.756000	0.85195	2.876000	0.98609	0.650000	0.86243	TCC		0.547	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		16	27	0	0	0	1	0	16	27				
APBB1IP	54518	broad.mit.edu	37	10	26825126	26825126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26825126G>A	ENST00000376236.4	+	10	1479	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	342	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATTTATTATGTACCCAAAGG	0.343																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1024-1026)Gta>Ata		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							83.0	100.0	95.0					10																	26825126		2199	4297	6496	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825126G>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1024G>A	10.37:g.26825126G>A	ENSP00000365411:p.Val342Ile						p.V342I	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			10	1479	+			342			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1024G>A	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094459	0.94149	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.16897	2.31	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.113366	0.64402	D	0.000013	T	0.39253	0.1071	L	0.56769	1.78	0.80722	D	1	P;D	0.69078	0.941;0.997	P;D	0.64877	0.808;0.93	T	0.00735	-1.1588	10	0.37606	T	0.19	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	342;342	B4E100;Q7Z5R6	.;AB1IP_HUMAN	I	342	ENSP00000365411:V342I	ENSP00000365411:V342I	V	+	1	0	APBB1IP	26865132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.874000	0.87199	2.814000	0.96858	0.655000	0.94253	GTA		0.343	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		68	104	0	0	0	1	0	68	104				
ABCC8	6833	broad.mit.edu	37	11	17464855	17464855	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17464855A>G	ENST00000389817.3	-	9	1405	c.1337T>C	c.(1336-1338)aTt>aCt	p.I446T	ABCC8_ENST00000302539.4_Missense_Mutation_p.I446T|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	446	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACACCCACAATGATCTGAGG	0.542																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1336-1338)aTt>aCt		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						100.0	87.0	92.0					11																	17464855		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17464855A>G	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1337T>C	11.37:g.17464855A>G	ENSP00000374467:p.Ile446Thr					ABCC8_ENST00000389817.3_Missense_Mutation_p.I446T	p.I446T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	9	1462	-			446			ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1337T>C	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409264	0.83340	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.90676	-2.71;-2.71	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.169997	0.51477	D	0.000094	D	0.92093	0.7494	L	0.61218	1.895	0.53688	D	0.999975	P;B	0.45768	0.866;0.201	P;B	0.48982	0.597;0.217	D	0.92706	0.6179	10	0.72032	D	0.01	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	445;446	B7Z4N0;Q09428	.;ABCC8_HUMAN	T	446;446;460	ENSP00000374467:I446T;ENSP00000303960:I446T	ENSP00000303960:I446T	I	-	2	0	ABCC8	17421431	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.326000	0.96389	2.311000	0.77944	0.533000	0.62120	ATT		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		3	43	0	0	0	1	0	3	43				
POPDC3	64208	broad.mit.edu	37	6	105607695	105607695	+	Splice_Site	SNP	C	C	A	rs113419658		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105607695C>A	ENST00000254765.3	-	3	764		c.e3-1		POPDC3_ENST00000474760.1_Splice_Site|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3						regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTCTGATCCTATCAAAACA	0.463																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.e3-1		popeye domain containing 3							74.0	62.0	66.0					6																	105607695		2203	4300	6503	SO:0001630	splice_region_variant	64208					integral to membrane		g.chr6:105607695C>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.486-1G>T	6.37:g.105607695C>A						BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Splice_Site|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA		NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			3	764	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)						B2RA98|Q5T3Y8|Q8TBW6	Splice_Site	SNP	ENST00000254765.3	37		CCDS5052.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.83|18.83	3.706967|3.706967	0.68615|0.68615	.|.	.|.	ENSG00000132429|ENSG00000132429	ENST00000254765|ENST00000429112	.|T	.|0.36157	.|1.27	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43634	.|0.1256	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22977	.|-1.0201	.|5	.|.	.|.	.|.	.|.	18.1455|18.1455	0.89653|0.89653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|M	-1|8	.|ENSP00000414409:R8M	.|.	.|R	-|-	.|2	.|0	POPDC3|POPDC3	105714388|105714388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	7.445000|7.445000	0.80570|0.80570	2.458000|2.458000	0.83093|0.83093	0.591000|0.591000	0.81541|0.81541	.|AGG		0.463	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	Intron	16	20	1	0	0.00316338	1	0.00334491	16	20				
NALCN	259232	broad.mit.edu	37	13	101763479	101763479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101763479C>T	ENST00000251127.6	-	19	2372	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	764					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTTACCTGCGCTCTTGGCG	0.552																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2290-2292)cGc>cAc		sodium leak channel, non-selective							175.0	165.0	168.0					13																	101763479		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763479C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2291G>A	13.37:g.101763479C>T	ENSP00000251127:p.Arg764His						p.R764H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			19	2372	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		764					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2291G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010209	0.93346	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	D	0.98450	1.0591	10	0.52906	T	0.07	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	764	Q8IZF0	NALCN_HUMAN	H	764	ENSP00000251127:R764H	ENSP00000251127:R764H	R	-	2	0	NALCN	100561480	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.298000	0.78815	2.615000	0.88500	0.650000	0.86243	CGC		0.552	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		67	101	0	0	0	1	0	67	101				
RALY	22913	broad.mit.edu	37	20	32664552	32664552	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32664552A>G	ENST00000246194.3	+	7	1091	c.589A>G	c.(589-591)Atc>Gtc	p.I197V	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.I181V	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	197					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGACACAGATCAAGTCCAA	0.587																																						ENST00000375114.3																			0				kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(541-543)Atc>Gtc		RALY heterogeneous nuclear ribonucleoprotein							76.0	61.0	66.0					20																	32664552		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32664552A>G	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.589A>G	20.37:g.32664552A>G	ENSP00000246194:p.Ile197Val					RALY_ENST00000246194.3_Missense_Mutation_p.I197V|RALY_ENST00000493399.1_3'UTR	p.I181V	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN			6	1119	+			197					Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.541A>G	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385247	0.61956	.	.	ENSG00000125970	ENST00000375114;ENST00000246194;ENST00000333552;ENST00000442805	T;T;T;D	0.85411	1.59;1.59;1.3;-1.98	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	M	0.79614	2.46	0.49389	D	0.999786	D;D	0.65815	0.995;0.967	D;D	0.79108	0.992;0.946	D	0.93007	0.6428	10	0.87932	D	0	-25.5974	15.318	0.74095	1.0:0.0:0.0:0.0	.	181;197	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	V	181;197;131;181	ENSP00000364255:I181V;ENSP00000246194:I197V;ENSP00000327522:I131V;ENSP00000415973:I181V	ENSP00000246194:I197V	I	+	1	0	RALY	32128213	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	8.584000	0.90798	2.285000	0.76669	0.477000	0.44152	ATC		0.587	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			4	44	0	0	0	1	0	4	44				
EPX	8288	broad.mit.edu	37	17	56270815	56270815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56270815C>T	ENST00000225371.5	+	3	364	c.254C>T	c.(253-255)aCa>aTa	p.T85I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	85					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GCCACCAGGACAGTTGTTCGG	0.577																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(253-255)aCa>aTa		eosinophil peroxidase							89.0	84.0	86.0					17																	56270815		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270815C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.254C>T	17.37:g.56270815C>T	ENSP00000225371:p.Thr85Ile						p.T85I	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			3	364	+			85					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.254C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	8.160	0.789250	0.16258	.	.	ENSG00000121053	ENST00000225371	T	0.71103	-0.54	4.59	-3.45	0.04781	.	0.675696	0.14212	N	0.334006	T	0.60235	0.2253	M	0.76574	2.34	0.09310	N	1	B	0.18310	0.027	B	0.12156	0.007	T	0.54523	-0.8281	10	0.56958	D	0.05	-0.5606	1.9706	0.03405	0.2253:0.2668:0.3496:0.1582	.	85	P11678	PERE_HUMAN	I	85	ENSP00000225371:T85I	ENSP00000225371:T85I	T	+	2	0	EPX	53625814	0.000000	0.05858	0.054000	0.19295	0.336000	0.28762	-0.073000	0.11468	-0.478000	0.06823	-0.335000	0.08231	ACA		0.577	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		5	81	0	0	0	1	0	5	81				
LRP1	4035	broad.mit.edu	37	12	57574962	57574962	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57574962C>T	ENST00000243077.3	+	34	6016	c.5550C>T	c.(5548-5550)tgC>tgT	p.C1850C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1850	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACCCCTGCAGTGTCAACA	0.647																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5548-5550)tgC>tgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						90.0	74.0	79.0					12																	57574962		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57574962C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5550C>T	12.37:g.57574962C>T							p.C1850C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	34	6016	+			1850			EGF-like 8.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5550C>T	CCDS8932.1																																																																																				0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	56	0	0	0	1	0	5	56				
TMCO6	55374	broad.mit.edu	37	5	140023377	140023377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140023377G>A	ENST00000394671.3	+	9	1032	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	TMCO6_ENST00000252100.6_Missense_Mutation_p.V317M|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Missense_Mutation_p.V71M	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	311					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.V311M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATGCCCCGTGCTTCGATG	0.502																																						ENST00000394671.3																			1	Substitution - Missense(1)	p.V311M(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(931-933)Gtg>Atg		transmembrane and coiled-coil domains 6							77.0	81.0	80.0					5																	140023377		2095	4230	6325	SO:0001583	missense	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023377G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.931G>A	5.37:g.140023377G>A	ENSP00000378166:p.Val311Met					NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V317M|TMCO6_ENST00000537378.1_Missense_Mutation_p.V71M	p.V311M	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1032	+			311					Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	c.931G>A	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864023	0.71949	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.50813	1.48;0.73;1.48	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.067263	0.64402	D	0.000010	T	0.61085	0.2319	L	0.34521	1.04	0.41941	D	0.990617	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.63812	-0.6552	10	0.87932	D	0	-15.1891	19.3067	0.94165	0.0:0.0:1.0:0.0	.	317;311	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	M	311;71;317	ENSP00000378166:V311M;ENSP00000444474:V71M;ENSP00000252100:V317M	ENSP00000252100:V317M	V	+	1	0	TMCO6	140003561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.969000	0.56816	2.673000	0.90976	0.556000	0.70494	GTG		0.502	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		17	30	0	0	0	1	0	17	30				
GLI3	2737	broad.mit.edu	37	7	42065984	42065984	+	Silent	SNP	G	G	A	rs372501575		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42065984G>A	ENST00000395925.3	-	8	1140	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	352					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGACGGGCGCGGAAGAGTAGG	0.537									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1054-1056)tcC>tcT		GLI family zinc finger 3		G		0,4406		0,0,2203	87.0	84.0	85.0		1056	-8.3	0.3	7		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLI3	NM_000168.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		352/1581	42065984	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42065984G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1056C>T	7.37:g.42065984G>A						GLI3_ENST00000479210.1_5'UTR	p.S352S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			8	1140	-			352					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.1056C>T	CCDS5465.1																																																																																				0.537	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	23	0	0	0	1	0	11	23				
EFCAB7	84455	broad.mit.edu	37	1	64011660	64011660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64011660G>T	ENST00000371088.4	+	7	1124	c.878G>T	c.(877-879)aGg>aTg	p.R293M	DLEU2L_ENST00000340052.3_5'Flank|DLEU2L_ENST00000371086.2_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	293							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CATCAGTACAGGATGCAAATA	0.328																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(877-879)aGg>aTg		EF-hand calcium binding domain 7							98.0	98.0	98.0					1																	64011660		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:64011660G>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.878G>T	1.37:g.64011660G>T	ENSP00000360129:p.Arg293Met						p.R293M	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			7	1124	+			293					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.878G>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454491	0.63290	.	.	ENSG00000203965	ENST00000371088	T	0.45668	0.89	5.76	-3.7	0.04437	.	0.404428	0.30940	N	0.008568	T	0.18593	0.0446	L	0.46157	1.445	0.46185	D	0.998913	P	0.49447	0.924	B	0.43155	0.41	T	0.14839	-1.0458	10	0.72032	D	0.01	-2.3841	8.9401	0.35725	0.564:0.0:0.3368:0.0993	.	293	A8K855	EFCB7_HUMAN	M	293	ENSP00000360129:R293M	ENSP00000360129:R293M	R	+	2	0	EFCAB7	63784248	0.994000	0.37717	0.906000	0.35671	0.997000	0.91878	0.287000	0.18920	-0.555000	0.06142	0.591000	0.81541	AGG		0.328	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		35	36	1	0	3.67414e-24	1	4.87106e-24	35	36				
RILPL2	196383	broad.mit.edu	37	12	123900468	123900468	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123900468C>A	ENST00000280571.8	-	4	902	c.606G>T	c.(604-606)ctG>ctT	p.L202L		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	202					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GAAAAAAGAACCTGGTGTGGA	0.488																																						ENST00000280571.8																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.e4-1		Rab interacting lysosomal protein-like 2							233.0	229.0	230.0					12																	123900468		2203	4300	6503	SO:0001630	splice_region_variant	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123900468C>A	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.606-1G>T	12.37:g.123900468C>A							p.L202_splice	NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	4	902	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		202						Splice_Site	SNP	ENST00000280571.8	37	c.605_splice	CCDS9248.1																																																																																				0.488	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058	Silent	106	183	1	0	5.11573e-52	1	6.92008e-52	106	183				
ZNF398	57541	broad.mit.edu	37	7	148876569	148876569	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148876569C>T	ENST00000475153.1	+	6	1872	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	ZNF398_ENST00000483892.1_Silent_p.G364G|ZNF398_ENST00000540950.1_Silent_p.G540G|ZNF398_ENST00000335901.4_Silent_p.G364G|ZNF398_ENST00000420008.2_Silent_p.G364G|ZNF398_ENST00000491174.1_Silent_p.G364G|ZNF398_ENST00000426851.2_Silent_p.G364G			Q8TD17	ZN398_HUMAN	zinc finger protein 398	535					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCACACAGGCGAGCGGCCCT	0.607																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(1090-1092)ggC>ggT		zinc finger protein 398							70.0	62.0	65.0					7																	148876569		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876569C>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1605C>T	7.37:g.148876569C>T						ZNF398_ENST00000540950.1_Silent_p.G540G|ZNF398_ENST00000426851.2_Silent_p.G364G|ZNF398_ENST00000475153.1_Silent_p.G535G|ZNF398_ENST00000491174.1_Silent_p.G364G|ZNF398_ENST00000335901.4_Silent_p.G364G|ZNF398_ENST00000483892.1_Silent_p.G364G	p.G364G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1880	+	Melanoma(164;0.15)		535					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	c.1092C>T	CCDS5894.1																																																																																				0.607	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			18	42	0	0	0	1	0	18	42				
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110168C>A	ENST00000422538.3	-	6	788	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H|ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	222					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000542202.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14								endonuclease, polyU-specific							130.0	119.0	123.0					12																	48110168		2203	4300	6503	SO:0001583	missense	8909				female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity	g.chr12:48110168C>A	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.666G>T	12.37:g.48110168C>A	ENSP00000397679:p.Gln222His		OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H				P21128	ENDOU_HUMAN			0	415	-								B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Translation_Start_Site	SNP	ENST00000422538.3	37		CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634583	0.29068	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.06	5.16	0.70880	.	0.278254	0.43260	D	0.000585	T	0.32526	0.0832	L	0.56396	1.775	0.80722	D	1	B;B;P	0.38745	0.447;0.444;0.645	B;B;B	0.40982	0.143;0.345;0.234	T	0.12041	-1.0563	10	0.54805	T	0.06	-32.8867	9.3973	0.38410	0.1423:0.7846:0.0:0.0732	.	159;222;181	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	H	181;222;159	ENSP00000229003:Q181H;ENSP00000397679:Q222H	ENSP00000229003:Q181H	Q	-	3	2	ENDOU	46396435	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.082000	0.41605	1.548000	0.49413	0.655000	0.94253	CAG		0.562	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		6	54	1	0	0.248553	1	0.25002	6	54				
PLXNB2	23654	broad.mit.edu	37	22	50719202	50719202	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50719202G>T	ENST00000449103.1	-	24	4104	c.3964C>A	c.(3964-3966)Ctg>Atg	p.L1322M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1322M|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1322					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTTCAGCAGGTTGGAGAAC	0.662																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3964-3966)Ctg>Atg		plexin B2							37.0	39.0	39.0					22																	50719202		1948	4123	6071	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719202G>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3964C>A	22.37:g.50719202G>T	ENSP00000409171:p.Leu1322Met					PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1322M	p.L1322M			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	24	4104	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1322					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.3964C>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562451	0.86335	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.26660	1.72;1.72	4.17	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.144442	0.31976	N	0.006773	T	0.53932	0.1827	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63019	-0.6730	10	0.87932	D	0	.	16.64	0.85069	0.0:0.0:1.0:0.0	.	1322	O15031	PLXB2_HUMAN	M	1322	ENSP00000409171:L1322M;ENSP00000352288:L1322M	ENSP00000352288:L1322M	L	-	1	2	PLXNB2	49061329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.181000	0.71988	2.158000	0.67659	0.561000	0.74099	CTG		0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	19	1	0	1.06961e-07	1	1.26574e-07	7	19				
PRAMEF1	65121	broad.mit.edu	37	1	12854195	12854195	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12854195G>T	ENST00000332296.7	+	3	522	c.419G>T	c.(418-420)aGg>aTg	p.R140M	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	140					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGTCCAAGGATGGGAGAG	0.537																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(418-420)aGg>aTg		PRAME family member 1							106.0	119.0	115.0					1																	12854195		2203	4299	6502	SO:0001583	missense	65121							g.chr1:12854195G>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.419G>T	1.37:g.12854195G>T	ENSP00000332134:p.Arg140Met						p.R140M	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	522	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	140					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.419G>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.90	1.481363	0.26598	.	.	ENSG00000116721	ENST00000332296	T	0.06449	3.3	1.7	0.717	0.18196	.	1.316240	0.05083	N	0.483826	T	0.22781	0.0550	M	0.80183	2.485	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.06844	-1.0804	10	0.59425	D	0.04	.	3.5791	0.07945	0.2707:0.0:0.7293:0.0	.	140	O95521	PRAM1_HUMAN	M	140	ENSP00000332134:R140M	ENSP00000332134:R140M	R	+	2	0	PRAMEF1	12776782	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.315000	0.08081	0.253000	0.21552	0.537000	0.68136	AGG		0.537	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		6	235	1	0	0.0215528	1	0.0221649	6	235				
ETFDH	2110	broad.mit.edu	37	4	159606352	159606352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159606352C>A	ENST00000511912.1	+	5	919	c.587C>A	c.(586-588)cCt>cAt	p.P196H	ETFDH_ENST00000307738.5_Missense_Mutation_p.P149H	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	196					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAAGTATACCCTGGTTATGCA	0.368																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(586-588)cCt>cAt		electron-transferring-flavoprotein dehydrogenase							136.0	136.0	136.0					4																	159606352		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159606352C>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.587C>A	4.37:g.159606352C>A	ENSP00000426638:p.Pro196His					ETFDH_ENST00000307738.5_Missense_Mutation_p.P149H	p.P196H	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	5	919	+	all_hematologic(180;0.24)	Renal(120;0.0458)	196					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.587C>A	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813025	0.90707	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.96802	-3.65;-4.13;-3.65	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.70935	0.943;0.943;0.971	D	0.99167	1.0863	10	0.87932	D	0	-20.876	19.8926	0.96935	0.0:1.0:0.0:0.0	.	149;135;196	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	H	196;31;149	ENSP00000426638:P196H;ENSP00000422735:P31H;ENSP00000303552:P149H	ENSP00000303552:P149H	P	+	2	0	ETFDH	159825802	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.818000	0.86416	2.709000	0.92574	0.563000	0.77884	CCT		0.368	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			7	109	1	0	0.000157383	1	0.00017284	7	109				
NIPBL	25836	broad.mit.edu	37	5	37048693	37048693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37048693G>T	ENST00000282516.8	+	39	7178	c.6679G>T	c.(6679-6681)Gtc>Ttc	p.V2227F	NIPBL_ENST00000448238.2_Missense_Mutation_p.V2227F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2227					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTCCTCAGTCAATTTAAA	0.343																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6679-6681)Gtc>Ttc		Nipped-B homolog (Drosophila)							39.0	44.0	43.0					5																	37048693		2194	4286	6480	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37048693G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6679G>T	5.37:g.37048693G>T	ENSP00000282516:p.Val2227Phe					NIPBL_ENST00000448238.2_Missense_Mutation_p.V2227F	p.V2227F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		39	7178	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2227					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6679G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424159	0.62733	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93604	-3.25;-3.24	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.053759	0.85682	D	0.000000	D	0.94565	0.8249	L	0.46157	1.445	0.53688	D	0.999973	D;D	0.57899	0.967;0.981	P;P	0.59424	0.776;0.857	D	0.91287	0.5056	10	0.15952	T	0.53	-11.3444	20.6397	0.99537	0.0:0.0:1.0:0.0	.	2227;2227	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	F	2227	ENSP00000282516:V2227F;ENSP00000406266:V2227F	ENSP00000282516:V2227F	V	+	1	0	NIPBL	37084450	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.004000	0.63966	2.880000	0.98712	0.650000	0.86243	GTC		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		19	40	1	0	2.35188e-11	1	2.93101e-11	19	40				
GRIK4	2900	broad.mit.edu	37	11	120831757	120831757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120831757G>A	ENST00000527524.2	+	17	2301	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R	GRIK4_ENST00000438375.2_Missense_Mutation_p.G672R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	672					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CACAATTCACGGAGGCTCCAG	0.522																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(2014-2016)Gga>Aga		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						105.0	92.0	96.0					11																	120831757		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120831757G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2014G>A	11.37:g.120831757G>A	ENSP00000435648:p.Gly672Arg					GRIK4_ENST00000438375.2_Missense_Mutation_p.G672R	p.G672R			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	17	2301	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	672					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2014G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757623	0.89843	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.19532	2.14;2.14	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.42744	1.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.19582	-1.0301	10	0.87932	D	0	.	19.0461	0.93020	0.0:0.0:1.0:0.0	.	672;672	A6H8K8;Q16099	.;GRIK4_HUMAN	R	672	ENSP00000435648:G672R;ENSP00000404063:G672R	ENSP00000404063:G672R	G	+	1	0	GRIK4	120336967	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.593000	0.87608	0.655000	0.94253	GGA		0.522	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		25	33	0	0	0	1	0	25	33				
HLA-F-AS1	285830	broad.mit.edu	37	6	29713481	29713481	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29713481G>T	ENST00000458236.1	-	0	117									HLA-F antisense RNA 1																		AGCACCGTGAGGTTGTAACAA	0.507																																						ENST00000458236.1																			0																																																			0							g.chr6:29713481G>T	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29713481G>T														0	117	-									RNA	SNP	ENST00000458236.1	37																																																																																						0.507	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		5	43	1	0	0.000602214	1	0.000649039	5	43				
PAN2	9924	broad.mit.edu	37	12	56718252	56718252	+	Missense_Mutation	SNP	C	C	T	rs573135435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56718252C>T	ENST00000425394.2	-	12	2130	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H	PAN2_ENST00000548043.1_Missense_Mutation_p.R585H|PAN2_ENST00000257931.5_Missense_Mutation_p.R585H|PAN2_ENST00000440411.3_Missense_Mutation_p.R585H	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGGAATAGTACGGAATGCCCG	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20854	0.0		0.0	False		,,,				2504	0.0					ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1753-1755)cGt>cAt		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							66.0	68.0	67.0					12																	56718252		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56718252C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1754G>A	12.37:g.56718252C>T	ENSP00000401721:p.Arg585His					PAN2_ENST00000548043.1_Missense_Mutation_p.R585H|PAN2_ENST00000257931.5_Missense_Mutation_p.R585H|PAN2_ENST00000440411.3_Missense_Mutation_p.R585H	p.R585H	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			12	2130	-			585						Missense_Mutation	SNP	ENST00000425394.2	37	c.1754G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639833	0.87760	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	T	0.11641	-1.0579	10	0.72032	D	0.01	-14.4462	17.8252	0.88662	0.0:1.0:0.0:0.0	.	585;585;585	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	H	585	ENSP00000401721:R585H;ENSP00000388231:R585H;ENSP00000257931:R585H;ENSP00000449861:R585H	ENSP00000257931:R585H	R	-	2	0	PAN2	55004519	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.502000	0.81614	2.581000	0.87130	0.455000	0.32223	CGT		0.502	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		4	51	0	0	0	1	0	4	51				
VPS45	11311	broad.mit.edu	37	1	150082692	150082692	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150082692T>C	ENST00000369130.3	+	14	2121	c.1575T>C	c.(1573-1575)acT>acC	p.T525T	VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000369128.5_Silent_p.T420T	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	525					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCGCACCACTCCTGGAGTGA	0.443																																						ENST00000369130.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1573-1575)acT>acC		vacuolar protein sorting 45 homolog (S. cerevisiae)							87.0	87.0	87.0					1																	150082692		2203	4300	6503	SO:0001819	synonymous_variant	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150082692T>C	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1575T>C	1.37:g.150082692T>C						VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000369128.5_Silent_p.T420T|VPS45_ENST00000484306.1_3'UTR	p.T525T	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		14	2121	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		525					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	ENST00000369130.3	37	c.1575T>C	CCDS944.1																																																																																				0.443	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		3	52	0	0	0	1	0	3	52				
ZNF281	23528	broad.mit.edu	37	1	200377831	200377831	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377831G>C	ENST00000294740.3	-	2	1127	c.1003C>G	c.(1003-1005)Cac>Gac	p.H335D	ZNF281_ENST00000367353.1_Missense_Mutation_p.H335D|ZNF281_ENST00000367352.3_Missense_Mutation_p.H299D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	335					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTCCTCTTGTGTCTCTCCATA	0.408																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1003-1005)Cac>Gac		zinc finger protein 281							198.0	207.0	204.0					1																	200377831		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377831G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1003C>G	1.37:g.200377831G>C	ENSP00000294740:p.His335Asp					ZNF281_ENST00000367353.1_Missense_Mutation_p.H335D|ZNF281_ENST00000367352.3_Missense_Mutation_p.H299D	p.H335D	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1127	-			335					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1003C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910657	0.72983	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	D;D;D	0.86769	-2.17;-2.17;-2.17	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96361	0.9266	10	0.87932	D	0	-10.3344	19.9857	0.97347	0.0:0.0:1.0:0.0	.	299;335	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	335;335;299;40	ENSP00000294740:H335D;ENSP00000356322:H335D;ENSP00000356321:H299D	ENSP00000294740:H335D	H	-	1	0	ZNF281	198644454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.714000	0.98744	2.706000	0.92434	0.655000	0.94253	CAC		0.408	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		21	291	0	0	0	1	0	21	291				
MLXIPL	51085	broad.mit.edu	37	7	73010520	73010520	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73010520C>A	ENST00000313375.3	-	13	2068	c.2021G>T	c.(2020-2022)gGg>gTg	p.G674V	MLXIPL_ENST00000414749.2_Missense_Mutation_p.G672V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.G672V|MLXIPL_ENST00000395189.1_Missense_Mutation_p.G581V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G580V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G674V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	674	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTCACGAGCCCATGAAGGGT	0.642																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2020-2022)gGg>gTg		MLX interacting protein-like							60.0	58.0	58.0					7																	73010520		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010520C>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2021G>T	7.37:g.73010520C>A	ENSP00000320886:p.Gly674Val					MLXIPL_ENST00000354613.1_Missense_Mutation_p.G672V|MLXIPL_ENST00000395189.1_Missense_Mutation_p.G581V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G580V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.G672V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G674V	p.G674V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			13	2068	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	674					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2021G>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489549	0.64074	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.98437	-4.56;-4.93;-4.56;-4.93;-4.56;-4.56	5.38	5.38	0.77491	.	0.199147	0.43110	D	0.000615	D	0.97483	0.9176	N	0.26042	0.785	0.51767	D	0.999933	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.964;0.964	D;D;D;P;P	0.73708	0.981;0.951;0.962;0.708;0.708	D	0.97069	0.9776	10	0.72032	D	0.01	-22.9688	10.1826	0.42977	0.0:0.909:0.0:0.091	.	581;674;674;672;672	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	V	672;674;674;672;581;580	ENSP00000412330:G672V;ENSP00000406296:G674V;ENSP00000320886:G674V;ENSP00000346629:G672V;ENSP00000378616:G581V;ENSP00000392636:G580V	ENSP00000320886:G674V	G	-	2	0	MLXIPL	72648456	0.330000	0.24705	0.996000	0.52242	0.934000	0.57294	2.039000	0.41193	2.530000	0.85305	0.558000	0.71614	GGG		0.642	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		23	52	1	0	4.26978e-12	1	5.35206e-12	23	52				
CENPBD1	92806	broad.mit.edu	37	16	90038294	90038294	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90038294G>A	ENST00000314994.3	-	1	648	c.37C>T	c.(37-39)Cct>Tct	p.P13S	RP11-566K11.5_ENST00000565150.1_RNA|AFG3L1P_ENST00000437774.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	13	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						TTGGCACTAGGGATGACAGTT	0.502																																						ENST00000314994.3																			0				endometrium(1)|lung(2)	3						c.(37-39)Cct>Tct		CENPB DNA-binding domains containing 1							43.0	48.0	46.0					16																	90038294		2095	4216	6311	SO:0001583	missense	92806				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:90038294G>A	AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.37C>T	16.37:g.90038294G>A	ENSP00000393854:p.Pro13Ser					RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	p.P13S	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN			1	648	-			13			HTH psq-type.			Missense_Mutation	SNP	ENST00000314994.3	37	c.37C>T	CCDS45556.1	.	.	.	.	.	.	.	.	.	.	g	14.78	2.638802	0.47153	.	.	ENSG00000177946	ENST00000314994	T	0.40756	1.02	4.34	-1.05	0.10036	Helix-turn-helix, Psq-like (1);	.	.	.	.	T	0.09291	0.0229	N	0.00583	-1.355	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.33954	-0.9848	9	0.07030	T	0.85	.	3.1308	0.06423	0.4031:0.0:0.4083:0.1886	.	13	B2RD01	CENP1_HUMAN	S	13	ENSP00000393854:P13S	ENSP00000393854:P13S	P	-	1	0	CENPBD1	88565795	0.002000	0.14202	0.003000	0.11579	0.604000	0.37047	0.234000	0.17930	0.037000	0.15575	0.558000	0.71614	CCT		0.502	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421897.1	NM_145039		12	18	0	0	0	1	0	12	18				
CABIN1	23523	broad.mit.edu	37	22	24515526	24515526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24515526C>T	ENST00000398319.2	+	28	4878	c.4493C>T	c.(4492-4494)cCg>cTg	p.P1498L	CABIN1_ENST00000263119.5_Missense_Mutation_p.P1498L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1419L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1498					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.P1498Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGGGGCTGCCGGCTGGTGCT	0.642																																						ENST00000398319.2																			1	Substitution - Missense(1)	p.P1498Q(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4492-4494)cCg>cTg		calcineurin binding protein 1							46.0	51.0	50.0					22																	24515526		2203	4299	6502	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24515526C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4493C>T	22.37:g.24515526C>T	ENSP00000381364:p.Pro1498Leu					CABIN1_ENST00000405822.2_Missense_Mutation_p.P1419L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1498L	p.P1498L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			28	4878	+			1498					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.4493C>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381003	0.95945	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.74526	-0.31;-0.85;-0.31	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85873	0.1417	10	0.72032	D	0.01	.	18.6621	0.91474	0.0:1.0:0.0:0.0	.	1419;1498	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	L	1498;1419;1498	ENSP00000263119:P1498L;ENSP00000384694:P1419L;ENSP00000381364:P1498L	ENSP00000263119:P1498L	P	+	2	0	CABIN1	22845526	1.000000	0.71417	0.966000	0.40874	0.854000	0.48673	7.479000	0.81095	2.731000	0.93534	0.650000	0.86243	CCG		0.642	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		10	38	0	0	0	1	0	10	38				
MAPK8IP1	9479	broad.mit.edu	37	11	45926110	45926110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45926110C>T	ENST00000241014.2	+	8	1941	c.1771C>T	c.(1771-1773)Caa>Taa	p.Q591*	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Nonsense_Mutation_p.Q581*	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	591	Interaction with VRK2.|PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGCTGCTATGCAAAAGGTACC	0.592																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1741-1743)Caa>Taa		mitogen-activated protein kinase 8 interacting protein 1							99.0	84.0	89.0					11																	45926110		2203	4299	6502	SO:0001587	stop_gained	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45926110C>T		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1771C>T	11.37:g.45926110C>T	ENSP00000241014:p.Gln591*					MAPK8IP1_ENST00000241014.2_Nonsense_Mutation_p.Q591*	p.Q581*			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	8	2071	+			591			PID.		D3DQP4|O43407	Nonsense_Mutation	SNP	ENST00000241014.2	37	c.1741C>T	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	42	9.524698	0.99195	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-17.0986	20.2181	0.98305	0.0:1.0:0.0:0.0	.	.	.	.	X	591;581	.	ENSP00000241014:Q591X	Q	+	1	0	MAPK8IP1	45882686	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.791000	0.96007	0.561000	0.74099	CAA		0.592	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		20	27	0	0	0	1	0	20	27				
TEKT3	64518	broad.mit.edu	37	17	15215722	15215722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15215722C>T	ENST00000395930.1	-	7	1141	c.955G>A	c.(955-957)Gct>Act	p.A319T	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000338696.2_Missense_Mutation_p.A319T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	319					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTTAGCTTAGCGGAAGCTGCC	0.458																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(955-957)Gct>Act		tektin 3							94.0	89.0	91.0					17																	15215722		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15215722C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.955G>A	17.37:g.15215722C>T	ENSP00000379263:p.Ala319Thr					TEKT3_ENST00000338696.2_Missense_Mutation_p.A319T	p.A319T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	7	1141	-			319					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.955G>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	4.080	0.012720	0.07912	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02552	4.25;4.25;4.25	5.84	1.25	0.21368	.	0.372107	0.33732	N	0.004614	T	0.02304	0.0071	L	0.41236	1.265	0.19300	N	0.999977	B	0.12630	0.006	B	0.13407	0.009	T	0.48468	-0.9033	10	0.12430	T	0.62	-18.6956	6.0225	0.19636	0.3888:0.4772:0.0:0.134	.	319	Q9BXF9	TEKT3_HUMAN	T	319;319;153	ENSP00000379263:A319T;ENSP00000343995:A319T;ENSP00000443280:A153T	ENSP00000343995:A319T	A	-	1	0	TEKT3	15156447	0.004000	0.15560	0.016000	0.15963	0.146000	0.21551	0.047000	0.14056	0.333000	0.23563	0.650000	0.86243	GCT		0.458	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		25	57	0	0	0	1	0	25	57				
SLC25A53	401612	broad.mit.edu	37	X	103349436	103349436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103349436G>A	ENST00000357421.4	-	2	685	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	169					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R169W(1)									AGTGACAGCCGCCCCCAAAGC	0.532																																						ENST00000357421.4																			1	Substitution - Missense(1)	p.R169W(1)	lung(1)								c.(505-507)Cgg>Tgg		solute carrier family 25, member 53							71.0	80.0	77.0					X																	103349436		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349436G>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.505C>T	X.37:g.103349436G>A	ENSP00000361681:p.Arg169Trp						p.R169W	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	685	-			169					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.505C>T	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	14.15	2.450318	0.43531	.	.	ENSG00000176274	ENST00000357421	T	0.75260	-0.92	4.18	2.29	0.28610	Mitochondrial carrier domain (2);	0.000000	0.53938	D	0.000060	T	0.79269	0.4417	L	0.50333	1.59	0.38186	D	0.939771	D	0.89917	1.0	D	0.75484	0.986	T	0.76724	-0.2854	10	0.38643	T	0.18	-45.0832	9.3632	0.38208	0.0:0.0:0.4369:0.5631	.	169	Q5H9E4	MCAR6_HUMAN	W	169	ENSP00000361681:R169W	ENSP00000361681:R169W	R	-	1	2	MCART6	103236092	0.993000	0.37304	0.999000	0.59377	0.939000	0.58152	1.464000	0.35288	0.311000	0.23014	-0.229000	0.12294	CGG		0.532	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		6	148	0	0	0	1	0	6	148				
CXXC1	30827	broad.mit.edu	37	18	47809259	47809259	+	Missense_Mutation	SNP	G	G	A	rs371101670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809259G>A	ENST00000285106.6	-	14	2503	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R601W|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000589940.1_Silent_p.C584C|MBD1_ENST00000588937.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	597					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCGCACGCCGCAGCTTCTCC	0.612																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1789-1791)Cgg>Tgg		CXXC finger protein 1							134.0	113.0	120.0					18																	47809259		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809259G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1789C>T	18.37:g.47809259G>A	ENSP00000285106:p.Arg597Trp					CXXC1_ENST00000412036.2_Missense_Mutation_p.R601W|CXXC1_ENST00000589940.1_Silent_p.C584C	p.R597W	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			14	2503	-			597					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1789C>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422771	0.62733	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.28069	1.63;1.63	4.36	3.46	0.39613	CpG binding protein, C-terminal (1);	0.065812	0.64402	D	0.000017	T	0.51822	0.1697	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.978;0.976;0.991	T	0.54589	-0.8271	10	0.87932	D	0	-27.3448	11.4747	0.50291	0.0:0.0:0.8183:0.1817	.	601;597;464	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	W	597;601	ENSP00000285106:R597W;ENSP00000390475:R601W	ENSP00000285106:R597W	R	-	1	2	CXXC1	46063257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.578000	0.53892	0.903000	0.36546	0.579000	0.79373	CGG		0.612	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		12	20	0	0	0	1	0	12	20				
ZP4	57829	broad.mit.edu	37	1	238050822	238050822	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238050822G>T	ENST00000366570.4	-	5	751	c.593C>A	c.(592-594)gCt>gAt	p.A198D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	198	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCGAGACACAGCAATAGAGAA	0.537																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(592-594)gCt>gAt		zona pellucida glycoprotein 4							128.0	112.0	117.0					1																	238050822		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050822G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.593C>A	1.37:g.238050822G>T	ENSP00000355529:p.Ala198Asp					RP11-193H5.1_ENST00000450451.1_RNA	p.A198D	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	751	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	198			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.593C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202448	0.58234	.	.	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.86	2.96	0.34315	Zona pellucida sperm-binding protein (3);P-type trefoil (1);	0.065346	0.64402	D	0.000010	D	0.89431	0.6713	M	0.83953	2.67	0.09310	N	0.999999	D	0.67145	0.996	D	0.74674	0.984	T	0.80202	-0.1480	10	0.54805	T	0.06	-14.5158	8.6976	0.34305	0.1875:0.0:0.8125:0.0	.	198	Q12836	ZP4_HUMAN	D	198	ENSP00000355529:A198D	ENSP00000355529:A198D	A	-	2	0	ZP4	236117445	0.032000	0.19561	0.048000	0.18961	0.834000	0.47266	1.221000	0.32503	1.185000	0.42971	0.655000	0.94253	GCT		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			9	34	1	0	1.76689e-08	1	2.11513e-08	9	34				
CD36	948	broad.mit.edu	37	7	80276087	80276087	+	Missense_Mutation	SNP	G	G	A	rs368907671		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80276087G>A	ENST00000435819.1	+	6	715	c.31G>A	c.(31-33)Gct>Act	p.A11T	CD36_ENST00000394788.3_Missense_Mutation_p.A11T|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000544133.1_Missense_Mutation_p.A11T|CD36_ENST00000447544.2_Missense_Mutation_p.A11T|CD36_ENST00000534394.1_Intron|CD36_ENST00000432207.1_Missense_Mutation_p.A11T|CD36_ENST00000538969.1_Missense_Mutation_p.A11T|CD36_ENST00000309881.7_Missense_Mutation_p.A11T|CD36_ENST00000433696.2_Missense_Mutation_p.A11T			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	11					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGCTCATCGCTGGGGCTGT	0.453																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(31-33)Gct>Act		CD36 molecule (thrombospondin receptor)		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	197.0	183.0	188.0		31,31,31,31,31	-8.4	0.0	7		188	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CD36	NM_001127444.1,NM_001127443.1,NM_001001548.2,NM_001001547.2,NM_000072.3	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	11/473,11/473,11/473,11/473,11/473	80276087	1,13005	2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80276087G>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.31G>A	7.37:g.80276087G>A	ENSP00000399421:p.Ala11Thr					CD36_ENST00000538969.1_Missense_Mutation_p.A11T|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000394788.3_Missense_Mutation_p.A11T|CD36_ENST00000433696.2_Missense_Mutation_p.A11T|CD36_ENST00000534394.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.A11T|CD36_ENST00000544133.1_Missense_Mutation_p.A11T|CD36_ENST00000432207.1_Missense_Mutation_p.A11T|CD36_ENST00000309881.7_Missense_Mutation_p.A11T	p.A11T			P16671	CD36_HUMAN			6	715	+			11					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.31G>A	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920951	0.00498	0.0	1.16E-4	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000482059;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	0.16;0.16;0.3;-0.11;-0.11;0.16;0.16;0.3;0.16;0.9;0.16;-0.36;0.74;0.39	5.45	-8.36	0.00980	.	0.533226	0.22369	N	0.060980	T	0.35828	0.0945	N	0.11255	0.115	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.15178	-1.0446	9	.	.	.	-4.2595	11.6007	0.51001	0.685:0.0:0.2237:0.0913	.	11	P16671	CD36_HUMAN	T	11	ENSP00000399421:A11T;ENSP00000308165:A11T;ENSP00000410371:A11T;ENSP00000398760:A11T;ENSP00000409762:A11T;ENSP00000378268:A11T;ENSP00000415743:A11T;ENSP00000416388:A11T;ENSP00000411411:A11T;ENSP00000407690:A11T;ENSP00000392298:A11T;ENSP00000439543:A11T;ENSP00000441956:A11T;ENSP00000401863:A11T	.	A	+	1	0	CD36	80114023	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.360000	0.02600	-2.277000	0.00677	-1.945000	0.00491	GCT		0.453	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		73	52	0	0	0	1	0	73	52				
ITK	3702	broad.mit.edu	37	5	156641241	156641241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156641241C>A	ENST00000422843.3	+	4	517	c.365C>A	c.(364-366)cCt>cAt	p.P122H	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	122					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AAATATCATCCTAATTTCTGG	0.448			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(364-366)cCt>cAt		IL2-inducible T-cell kinase							132.0	122.0	125.0					5																	156641241		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156641241C>A	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.365C>A	5.37:g.156641241C>A	ENSP00000398655:p.Pro122His					CTB-4E7.1_ENST00000519375.1_RNA	p.P122H	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	517	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	122					B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.365C>A	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293682	0.80914	.	.	ENSG00000113263	ENST00000422843	D	0.99382	-5.8	5.49	5.49	0.81192	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.052741	0.85682	D	0.000000	D	0.99474	0.9813	M	0.86502	2.82	0.58432	D	0.999993	D	0.89917	1.0	D	0.76071	0.987	D	0.98705	1.0702	10	0.87932	D	0	.	18.1683	0.89736	0.0:1.0:0.0:0.0	.	122	Q08881	ITK_HUMAN	H	122	ENSP00000398655:P122H	ENSP00000398655:P122H	P	+	2	0	ITK	156573819	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	5.887000	0.69751	2.565000	0.86533	0.655000	0.94253	CCT		0.448	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			10	87	1	0	2.17888e-05	1	2.45068e-05	10	87				
AHNAK2	113146	broad.mit.edu	37	14	105416925	105416925	+	Silent	SNP	C	C	T	rs376710681		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416925C>T	ENST00000333244.5	-	7	4982	c.4863G>A	c.(4861-4863)ctG>ctA	p.L1621L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCATGCTGGACAGAGACATCT	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4861-4863)ctG>ctA		AHNAK nucleoprotein 2							94.0	112.0	106.0					14																	105416925		1835	4034	5869	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416925C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4863G>A	14.37:g.105416925C>T						AHNAK2_ENST00000557457.1_Intron	p.L1621L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4982	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1621					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.4863G>A	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	168	0	0	0	1	0	6	168				
IL27RA	9466	broad.mit.edu	37	19	14160031	14160031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14160031C>T	ENST00000263379.2	+	10	1432	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	436	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCGCCATAGCGTGGGGAGAG	0.637											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1306-1308)gCg>gTg		interleukin 27 receptor, alpha							56.0	52.0	53.0					19																	14160031		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14160031C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1307C>T	19.37:g.14160031C>T	ENSP00000263379:p.Ala436Val		OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	693		p.A436V	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			10	1432	+			436			Fibronectin type-III 3.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.1307C>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352531	0.41700	.	.	ENSG00000104998	ENST00000263379	T	0.53640	0.61	4.65	4.65	0.58169	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.314890	0.23165	N	0.051198	T	0.53514	0.1801	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.69142	0.962	T	0.43393	-0.9394	10	0.37606	T	0.19	-0.1063	12.8894	0.58064	0.0:1.0:0.0:0.0	.	436	Q6UWB1	I27RA_HUMAN	V	436	ENSP00000263379:A436V	ENSP00000263379:A436V	A	+	2	0	IL27RA	14021031	0.417000	0.25432	0.014000	0.15608	0.020000	0.10135	3.837000	0.55820	2.421000	0.82119	0.448000	0.29417	GCG		0.637	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		16	23	0	0	0	1	0	16	23				
HOXD8	3234	broad.mit.edu	37	2	176996304	176996304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176996304G>T	ENST00000313173.4	+	2	1464	c.837G>T	c.(835-837)gaG>gaT	p.E279D	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.E175D|HOXD8_ENST00000429017.1_Missense_Mutation_p.E95D|HOXD8_ENST00000450510.2_Missense_Mutation_p.E278D|HOXD8_ENST00000544999.1_Missense_Mutation_p.E278D	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	279					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGCCCAAGAGCTGGAGGAAG	0.428																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(835-837)gaG>gaT		homeobox D8							49.0	58.0	55.0					2																	176996304		2203	4300	6503	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996304G>T		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.837G>T	2.37:g.176996304G>T	ENSP00000315949:p.Glu279Asp					HOXD8_ENST00000548663.1_Missense_Mutation_p.E175D|HOXD8_ENST00000429017.1_Missense_Mutation_p.E95D|HOXD8_ENST00000450510.2_Missense_Mutation_p.E278D|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.E278D	p.E279D	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1464	+			279					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.837G>T	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	G	9.555	1.117072	0.20795	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91996	-2.85;-2.95;-2.84;-2.74;-2.84	6.03	0.279	0.15677	.	0.478491	0.18959	N	0.126460	T	0.76126	0.3944	N	0.08118	0	0.22745	N	0.99878	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61143	-0.7122	10	0.18710	T	0.47	.	1.3456	0.02162	0.2877:0.1024:0.3874:0.2225	.	278;279	Q8IXZ1;P13378	.;HXD8_HUMAN	D	95;279;278;175;278	ENSP00000406045:E95D;ENSP00000315949:E279D;ENSP00000437431:E278D;ENSP00000448196:E175D;ENSP00000409026:E278D	ENSP00000315949:E279D	E	+	3	2	HOXD8	176704550	0.857000	0.29778	0.932000	0.37286	0.994000	0.84299	0.148000	0.16224	0.095000	0.17434	-0.211000	0.12701	GAG		0.428	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			12	20	1	0	1.08611e-07	1	1.2824e-07	12	20				
BRCA1	672	broad.mit.edu	37	17	41201147	41201147	+	Silent	SNP	G	G	T	rs80359878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41201147G>T	ENST00000357654.3	-	21	5515	c.5397C>A	c.(5395-5397)acC>acA	p.T1799T	BRCA1_ENST00000591534.1_Silent_p.T290T|BRCA1_ENST00000491747.2_Silent_p.T695T|BRCA1_ENST00000471181.2_Silent_p.T1820T|BRCA1_ENST00000346315.3_Silent_p.T1560T|BRCA1_ENST00000354071.3_Silent_p.T1534T|BRCA1_ENST00000351666.3_Silent_p.T616T|BRCA1_ENST00000586385.1_Silent_p.T109T|BRCA1_ENST00000493795.1_Silent_p.T1752T|BRCA1_ENST00000352993.3_Silent_p.T657T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Silent_p.T32T|BRCA1_ENST00000309486.4_Silent_p.T1503T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1799	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGCCAAGGGTGAATGATG	0.473			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(4507-4509)acC>acA	Homologous recombination	breast cancer 1, early onset							131.0	99.0	110.0					17																	41201147		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41201147G>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5397C>A	17.37:g.41201147G>T		TCGA Ovarian(2;0.000030)				BRCA1_ENST00000351666.3_Silent_p.T616T|BRCA1_ENST00000471181.2_Silent_p.T1820T|BRCA1_ENST00000354071.3_Silent_p.T1534T|BRCA1_ENST00000591534.1_Silent_p.T290T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Silent_p.T657T|BRCA1_ENST00000346315.3_Silent_p.T1560T|BRCA1_ENST00000357654.3_Silent_p.T1799T|BRCA1_ENST00000591849.1_Silent_p.T32T|BRCA1_ENST00000586385.1_Silent_p.T109T|BRCA1_ENST00000493795.1_Silent_p.T1752T|BRCA1_ENST00000491747.2_Silent_p.T695T	p.T1503T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	20	5536	-		Breast(137;0.000717)	1799					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.4509C>A	CCDS11453.1																																																																																				0.473	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		12	26	1	0	2.80697e-09	1	3.39963e-09	12	26				
KIAA1217	56243	broad.mit.edu	37	10	24822049	24822049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24822049T>A	ENST00000376454.3	+	16	3327	c.3297T>A	c.(3295-3297)taT>taA	p.Y1099*	KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.Y1064*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.Y1019*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.Y1063*|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.Y782*	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1099					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTACAAAATATCCAGCAGAGG	0.512																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2344-2346)taT>taA		KIAA1217							106.0	101.0	103.0					10																	24822049		2203	4300	6503	SO:0001587	stop_gained	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822049T>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3297T>A	10.37:g.24822049T>A	ENSP00000365637:p.Tyr1099*					KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Y1099*|KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.Y1064*|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.Y1063*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.Y1019*	p.Y782*			Q5T5P2	SKT_HUMAN			11	2606	+			1099					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	37	c.2346T>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	T	36	5.769747	0.96914	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	.	.	.	5.5	-0.721	0.11189	.	0.538055	0.21239	N	0.077858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.81	0.40817	0.0:0.5118:0.0:0.4882	.	.	.	.	X	1019;1064;782;1099;1063;782;782;782;782;782	.	ENSP00000302343:Y782X	Y	+	3	2	KIAA1217	24862055	0.002000	0.14202	0.079000	0.20413	0.044000	0.14063	-0.359000	0.07632	-0.069000	0.12931	0.459000	0.35465	TAT		0.512	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		9	56	0	0	0	1	0	9	56				
HPCA	3208	broad.mit.edu	37	1	33354871	33354871	+	Silent	SNP	C	C	T	rs367665276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33354871C>T	ENST00000373467.3	+	2	474	c.372C>T	c.(370-372)atC>atT	p.I124I	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	124	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGCTGGAGATCGTGCAGGTGG	0.642																																						ENST00000373467.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(370-372)atC>atT		hippocalcin		C		1,4405	2.1+/-5.4	0,1,2202	34.0	33.0	34.0		372	-4.3	1.0	1		34	0,8598		0,0,4299	no	coding-synonymous	HPCA	NM_002143.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		124/194	33354871	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	3208						actin binding|calcium ion binding	g.chr1:33354871C>T	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.372C>T	1.37:g.33354871C>T						HPCA_ENST00000480118.1_3'UTR	p.I124I	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN			2	474	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	124			EF-hand 3.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Silent	SNP	ENST00000373467.3	37	c.372C>T	CCDS370.1																																																																																				0.642	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		9	25	0	0	0	1	0	9	25				
CAPNS2	84290	broad.mit.edu	37	16	55601250	55601250	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601250C>T	ENST00000457326.2	+	1	667	c.582C>T	c.(580-582)gtC>gtT	p.V194V	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	194	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						AAATGATTGTCCGCCGGTATG	0.493																																						ENST00000457326.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(580-582)gtC>gtT		calpain, small subunit 2							159.0	156.0	157.0					16																	55601250		1905	4118	6023	SO:0001819	synonymous_variant	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601250C>T	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.582C>T	16.37:g.55601250C>T						LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.V194V	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	667	+			194			EF-hand 3.		Q9BPV4	Silent	SNP	ENST00000457326.2	37	c.582C>T	CCDS54010.1																																																																																				0.493	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		90	105	0	0	0	1	0	90	105				
CCDC129	223075	broad.mit.edu	37	7	31682426	31682426	+	Missense_Mutation	SNP	C	C	T	rs138066602		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682426C>T	ENST00000407970.3	+	11	1480	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	CCDC129_ENST00000409210.1_Missense_Mutation_p.A389V|CCDC129_ENST00000319386.3_Missense_Mutation_p.A333V|CCDC129_ENST00000451887.2_Missense_Mutation_p.A507V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	481										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAAGTAGGGCGAGCATGTCT	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21927	0.0		0.0	False		,,,				2504	0.0					ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(997-999)gCg>gTg		coiled-coil domain containing 129		C	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	100.0	100.0	100.0		1442	-2.3	0.0	7	dbSNP_134	100	0,8600		0,0,4300	no	missense	CCDC129	NM_194300.2	64	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	481/1045	31682426	5,13001	2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682426C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1442C>T	7.37:g.31682426C>T	ENSP00000384416:p.Ala481Val					CCDC129_ENST00000451887.2_Missense_Mutation_p.A507V|CCDC129_ENST00000407970.3_Missense_Mutation_p.A481V|CCDC129_ENST00000409210.1_Missense_Mutation_p.A389V	p.A333V			Q6ZRS4	CC129_HUMAN			11	1991	+			481					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.998C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.762141	0.00651	0.001135	0.0	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.15603	2.41;2.67;2.66;2.42	5.85	-2.32	0.06745	.	1.044460	0.07546	N	0.914658	T	0.04318	0.0119	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.20052	0.002;0.0;0.0;0.041	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.41680	-0.9495	10	0.15499	T	0.54	-0.7497	4.28	0.10827	0.1567:0.3671:0.0:0.4763	.	507;491;481;333	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	V	333;481;507;491;389	ENSP00000313062:A333V;ENSP00000384416:A481V;ENSP00000395835:A507V;ENSP00000387214:A389V	ENSP00000313062:A333V	A	+	2	0	CCDC129	31648951	0.002000	0.14202	0.004000	0.12327	0.006000	0.05464	-0.130000	0.10498	-0.123000	0.11745	-0.631000	0.03989	GCG		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		36	99	0	0	0	1	0	36	99				
PTPRZ1	5803	broad.mit.edu	37	7	121650943	121650943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650943G>T	ENST00000393386.2	+	12	2254	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E615*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	615					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGAAAACCCAGAGACAATAAC	0.413																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1843-1845)Gag>Tag		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							50.0	51.0	51.0					7																	121650943		2203	4300	6503	SO:0001587	stop_gained	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650943G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1843G>T	7.37:g.121650943G>T	ENSP00000377047:p.Glu615*					PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E615*	p.E615*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2254	+			615					A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	c.1843G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	37	6.152713	0.97329	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.4	5.4	0.78164	.	0.355680	0.26903	N	0.021914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.3879	0.66958	0.0:0.0:0.8522:0.1478	.	.	.	.	X	615	.	ENSP00000377047:E615X	E	+	1	0	PTPRZ1	121438179	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	3.178000	0.50879	2.696000	0.92011	0.655000	0.94253	GAG		0.413	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		20	78	1	0	8.10497e-08	1	9.61437e-08	20	78				
POF1B	79983	broad.mit.edu	37	X	84614635	84614635	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84614635C>A	ENST00000262753.4	-	4	503	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	POF1B_ENST00000373145.3_Splice_Site_p.E120*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	120						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GAATGAAGTTCCTGTGAAGAA	0.333																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.e4-1		premature ovarian failure, 1B							124.0	112.0	116.0					X																	84614635		2203	4299	6502	SO:0001630	splice_region_variant	79983						actin binding	g.chrX:84614635C>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.358-1G>T	X.37:g.84614635C>A						POF1B_ENST00000373145.3_Splice_Site_p.E120_splice	p.E120_splice	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			4	503	-			120					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Splice_Site	SNP	ENST00000262753.4	37	c.357_splice	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684228	0.68157	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	.	.	.	4.77	4.77	0.60923	.	0.137262	0.33477	N	0.004874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	11.9219	0.52797	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000262753:E120X	E	-	1	0	POF1B	84501291	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	3.143000	0.50608	2.199000	0.70637	0.506000	0.49869	GAA		0.333	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	Nonsense_Mutation	4	87	1	0	2.56e-06	1	2.9446e-06	4	87				
ZNF507	22847	broad.mit.edu	37	19	32844255	32844255	+	Silent	SNP	C	C	T	rs148132440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844255C>T	ENST00000311921.4	+	2	711	c.519C>T	c.(517-519)caC>caT	p.H173H	ZNF507_ENST00000544431.1_Silent_p.H173H|ZNF507_ENST00000355898.5_Silent_p.H173H	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGAAGCCCACGTGGTGAATG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		21417	0.001		0.0	False		,,,				2504	0.0					ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(517-519)caC>caT		zinc finger protein 507		C	,	0,4406		0,0,2203	84.0	82.0	83.0		519,519	-7.0	0.9	19	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ZNF507	NM_001136156.1,NM_014910.4	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	173/954,173/954	32844255	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844255C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.519C>T	19.37:g.32844255C>T						ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Silent_p.H173H|ZNF507_ENST00000544431.1_Silent_p.H173H	p.H173H	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	711	+	Esophageal squamous(110;0.162)		173					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	ENST00000311921.4	37	c.519C>T	CCDS32985.1																																																																																				0.448	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		22	34	0	0	0	1	0	22	34				
IGLV2-14	28815	broad.mit.edu	37	22	23101539	23101539	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23101539C>T	ENST00000390312.2	+	0	234				D87015.1_ENST00000385100.1_RNA					immunoglobulin lambda variable 2-14																		AGGCAAAGCCCCCAAACTCAT	0.537																																						ENST00000390312.2																			0																				161.0	171.0	168.0					22																	23101539		1864	4109	5973			0							g.chr22:23101539C>T	Z73664		22q11.2	2012-02-08			ENSG00000211666	ENSG00000211666		"""Immunoglobulins / IGL locus"""	5888	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151235		22.37:g.23101539C>T														0	234	+									RNA	SNP	ENST00000390312.2	37																																																																																						0.537	IGLV2-14-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321840.1	NG_000002		70	123	0	0	0	1	0	70	123				
HEATR2	54919	broad.mit.edu	37	7	794424	794424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794424C>T	ENST00000297440.6	+	5	1243	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	HEATR2_ENST00000313147.5_Missense_Mutation_p.A408V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	408						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTTCCAGGCCTGCACCGAC	0.637																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1222-1224)gCc>gTc		HEAT repeat containing 2							43.0	28.0	33.0					7																	794424		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:794424C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1223C>T	7.37:g.794424C>T	ENSP00000297440:p.Ala408Val					HEATR2_ENST00000313147.5_Missense_Mutation_p.A408V	p.A408V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	5	1243	+		Ovarian(82;0.0112)	408					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1223C>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076564	0.94000	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862	T;T	0.66280	-0.2;-0.2	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.069609	0.64402	D	0.000020	T	0.77370	0.4120	M	0.69185	2.1	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	P;D	0.65573	0.844;0.936	T	0.75687	-0.3231	10	0.40728	T	0.16	-37.1725	19.4447	0.94841	0.0:1.0:0.0:0.0	.	408;154	Q86Y56;F5H8D4	HEAT2_HUMAN;.	V	408;408;154	ENSP00000297440:A408V;ENSP00000321451:A408V	ENSP00000297440:A408V	A	+	2	0	HEATR2	760950	0.998000	0.40836	0.348000	0.25681	0.046000	0.14306	4.282000	0.58971	2.591000	0.87537	0.462000	0.41574	GCC		0.637	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		18	3	0	0	0	1	0	18	3				
LOC101929950	101929950	broad.mit.edu	37	17	36365177	36365177	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36365177C>T	ENST00000312412.4	-	4	418		c.e4-1		RP11-1407O15.2_ENST00000544906.1_Splice_Site																kidney(1)|lung(3)	4						GTTCCCGTACCTGTGATTGAA	0.343																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.e4-1																																						SO:0001630	splice_region_variant	0							g.chr17:36365177C>T																												ENST00000312412.4:c.419-1G>A	17.37:g.36365177C>T						RP11-1407O15.2_ENST00000544906.1_Splice_Site								4	418	-									Splice_Site	SNP	ENST00000312412.4	37			.	.	.	.	.	.	.	.	.	.	C	9.602	1.128946	0.21041	.	.	ENSG00000174093	ENST00000520237;ENST00000312412;ENST00000523089;ENST00000518004	.	.	.	2.81	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6972	0.62587	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RP11-1407O15.2	33618983	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.479000	0.81095	1.570000	0.49709	0.194000	0.17425	.		0.343	RP11-1407O15.2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			Intron	6	80	0	0	0	1	0	6	80				
KRTAP5-2	440021	broad.mit.edu	37	11	1619040	1619040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1619040G>T	ENST00000412090.1	-	1	484	c.441C>A	c.(439-441)tgC>tgA	p.C147*	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	147	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGGGACACAGCAGCTGGACT	0.607																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(439-441)tgC>tgA		keratin associated protein 5-2							101.0	104.0	103.0					11																	1619040		2202	4299	6501	SO:0001587	stop_gained	440021					keratin filament		g.chr11:1619040G>T	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.441C>A	11.37:g.1619040G>T	ENSP00000400041:p.Cys147*					KRTAP5-AS1_ENST00000424148.1_RNA	p.C147*	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	484	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	147			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	Nonsense_Mutation	SNP	ENST00000412090.1	37	c.441C>A	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	g	10.46	1.356567	0.24598	.	.	ENSG00000205867	ENST00000412090	.	.	.	3.63	-0.763	0.11030	.	.	.	.	.	.	.	.	.	.	.	0.42845	D	0.994062	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6359	0.28266	0.5149:0.0:0.4851:0.0	.	.	.	.	X	147	.	ENSP00000400041:C147X	C	-	3	2	KRTAP5-2	1575616	0.814000	0.29104	0.985000	0.45067	0.370000	0.29829	0.674000	0.25218	-0.397000	0.07691	0.109000	0.15622	TGC		0.607	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		21	81	1	0	4.26978e-12	1	5.35206e-12	21	81				
ELK1	2002	broad.mit.edu	37	X	47496428	47496428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47496428G>T	ENST00000247161.3	-	5	1271	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	ELK1_ENST00000592066.1_Missense_Mutation_p.A337D|ELK1_ENST00000376983.3_Missense_Mutation_p.A391D	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	391	Sufficient for interaction with MAD2L2.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGAGAGCTTGGCCGGGCTACG	0.612																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(1171-1173)gCc>gAc		ELK1, member of ETS oncogene family							39.0	37.0	38.0					X																	47496428		2201	4299	6500	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47496428G>T	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1172C>A	X.37:g.47496428G>T	ENSP00000247161:p.Ala391Asp					ELK1_ENST00000376983.3_Missense_Mutation_p.A391D|ELK1_ENST00000592066.1_Missense_Mutation_p.A337D	p.A391D	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			5	1271	-			391			Sufficient for interaction with MAD2L2.		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.1172C>A	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000588	0.74818	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.46451	0.87;0.87	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70821	-0.4768	10	0.87932	D	0	.	15.075	0.72071	0.0:0.0:1.0:0.0	.	391	P19419	ELK1_HUMAN	D	391;84;391	ENSP00000247161:A391D;ENSP00000366182:A391D	ENSP00000247161:A391D	A	-	2	0	ELK1	47381372	1.000000	0.71417	0.976000	0.42696	0.493000	0.33554	9.735000	0.98825	2.146000	0.66826	0.513000	0.50165	GCC		0.612	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		6	14	1	0	0.0293803	1	0.0301098	6	14				
SLC2A11	66035	broad.mit.edu	37	22	24210757	24210757	+	Silent	SNP	C	C	T	rs201151293		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24210757C>T	ENST00000345044.6	+	3	478	c.210C>T	c.(208-210)atC>atT	p.I70I	AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000398356.2_Silent_p.I77I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000316185.8_Silent_p.I73I|SLC2A11_ENST00000403208.3_Silent_p.I70I|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	70					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGTCCCTCATCGTGTCTCTGT	0.562																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(208-210)atC>atT		solute carrier family 2 (facilitated glucose transporter), member 11		C	,,	0,4406		0,0,2203	195.0	144.0	161.0		210,219,231	-4.1	1.0	22		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC2A11	NM_001024938.2,NM_001024939.2,NM_030807.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	70/497,73/500,77/504	24210757	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24210757C>T	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.210C>T	22.37:g.24210757C>T						SLC2A11_ENST00000403208.3_Silent_p.I70I|SLC2A11_ENST00000316185.8_Silent_p.I73I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000398356.2_Silent_p.I77I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000467660.1_3'UTR	p.I70I			Q9BYW1	GTR11_HUMAN			3	478	+			70					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.210C>T	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	4.600	0.111408	0.08831	0.0	1.16E-4	ENSG00000251357	ENST00000421180	.	.	.	3.24	-4.11	0.03928	.	.	.	.	.	T	0.47691	0.1459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43327	-0.9398	4	.	.	.	.	5.8845	0.18874	0.1515:0.2324:0.0:0.6161	.	.	.	.	L	46	.	.	S	+	2	0	AP000350.10	22540757	0.003000	0.15002	0.960000	0.40013	0.355000	0.29361	-2.051000	0.01402	-0.803000	0.04415	0.400000	0.26472	TCG		0.562	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		32	40	0	0	0	1	0	32	40				
EHMT2	10919	broad.mit.edu	37	6	31860293	31860293	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31860293G>A	ENST00000375537.4	-	7	761	c.755C>T	c.(754-756)aCg>aTg	p.T252M	EHMT2_ENST00000395728.3_Missense_Mutation_p.T309M|EHMT2_ENST00000375530.4_Missense_Mutation_p.T252M|EHMT2_ENST00000375528.4_Missense_Mutation_p.T309M|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	252					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTCCCCTTTCGTCAGGGTCAC	0.542																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(925-927)aCg>aTg		euchromatic histone-lysine N-methyltransferase 2							58.0	54.0	56.0					6																	31860293		1510	2709	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31860293G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.755C>T	6.37:g.31860293G>A	ENSP00000364687:p.Thr252Met					EHMT2_ENST00000375528.4_Missense_Mutation_p.T309M|EHMT2_ENST00000375537.4_Missense_Mutation_p.T252M|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T252M	p.T309M			Q96KQ7	EHMT2_HUMAN			6	925	-			252			Poly-Glu.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.926C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374343	0.24857	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70282	-0.47;-0.42;-0.36;-0.47	4.88	3.73	0.42828	.	0.827052	0.10414	N	0.677525	T	0.37210	0.0995	N	0.08118	0	0.19775	N	0.999954	B;B;P;P	0.37708	0.199;0.3;0.474;0.606	B;B;B;B	0.41813	0.021;0.367;0.064;0.039	T	0.33266	-0.9875	10	0.44086	T	0.13	.	10.6151	0.45445	0.0:0.0:0.3225:0.6775	.	309;252;252;66	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	M	309;309;252;252;66	ENSP00000379078:T309M;ENSP00000364678:T309M;ENSP00000364680:T252M;ENSP00000364687:T252M	ENSP00000364678:T309M	T	-	2	0	EHMT2	31968272	0.999000	0.42202	0.996000	0.52242	0.452000	0.32318	1.046000	0.30354	1.010000	0.39314	-0.467000	0.05162	ACG		0.542	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		18	37	0	0	0	1	0	18	37				
ZNF528	84436	broad.mit.edu	37	19	52909181	52909181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909181G>A	ENST00000360465.3	+	5	463	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF528_ENST00000594530.1_Missense_Mutation_p.V13M|ZNF528_ENST00000598192.1_Missense_Mutation_p.V13M|ZNF528_ENST00000391788.2_Missense_Mutation_p.V3M	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCATGGATGTGGCCATAGA	0.458																																						ENST00000391788.2																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(7-9)Gtg>Atg		zinc finger protein 528							197.0	193.0	194.0					19																	52909181		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909181G>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.37G>A	19.37:g.52909181G>A	ENSP00000353652:p.Val13Met					ZNF528_ENST00000598192.1_Missense_Mutation_p.V13M|ZNF528_ENST00000360465.3_Missense_Mutation_p.V13M|ZNF528_ENST00000594530.1_Missense_Mutation_p.V13M	p.V3M			Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	5	530	+			13					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.7G>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668287	0.29604	.	.	ENSG00000167555	ENST00000391788;ENST00000436397;ENST00000391787;ENST00000360465;ENST00000494167;ENST00000493272	T;T;T	0.10382	2.88;2.88;2.88	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.38825	0.1055	M	0.91196	3.185	0.24849	N	0.992412	D	0.89917	1.0	D	0.97110	1.0	T	0.13683	-1.0500	9	0.72032	D	0.01	.	11.1749	0.48593	0.0:0.0:1.0:0.0	.	13	Q3MIS6	ZN528_HUMAN	M	3;13;13;13;3;3	ENSP00000375665:V3M;ENSP00000375664:V13M;ENSP00000353652:V13M	ENSP00000353652:V13M	V	+	1	0	ZNF528	57600993	0.960000	0.32886	0.107000	0.21349	0.037000	0.13140	2.437000	0.44828	1.141000	0.42275	0.491000	0.48974	GTG		0.458	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		67	107	0	0	0	1	0	67	107				
SCFD2	152579	broad.mit.edu	37	4	53740162	53740162	+	Nonsense_Mutation	SNP	G	G	A	rs375179896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53740162G>A	ENST00000401642.3	-	9	2162	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	SCFD2_ENST00000388940.4_Nonsense_Mutation_p.R632*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	677					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGATGCAGTCGGTCAGTTGCA	0.493																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2029-2031)Cga>Tga		sec1 family domain containing 2		G	stop/ARG	0,4406		0,0,2203	135.0	117.0	123.0		2029	5.0	1.0	4		123	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SCFD2	NM_152540.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		677/685	53740162	1,13005	2203	4300	6503	SO:0001587	stop_gained	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53740162G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.2029C>T	4.37:g.53740162G>A	ENSP00000384182:p.Arg677*					SCFD2_ENST00000388940.4_Nonsense_Mutation_p.R632*	p.R677*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		9	2162	-			677					Q8N5F3|Q8N8H0|Q96ED3	Nonsense_Mutation	SNP	ENST00000401642.3	37	c.2029C>T	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027370	0.75390	0.0	1.16E-4	ENSG00000184178	ENST00000401642;ENST00000388940	.	.	.	5.04	5.04	0.67666	.	0.166521	0.36002	N	0.002860	.	.	.	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7481	0.88426	0.0:0.0:1.0:0.0	.	.	.	.	X	677;632	.	ENSP00000373592:R632X	R	-	1	2	SCFD2	53434919	1.000000	0.71417	0.998000	0.56505	0.218000	0.24690	4.986000	0.63851	2.508000	0.84585	0.655000	0.94253	CGA		0.493	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		4	59	0	0	0	1	0	4	59				
ZNF804B	219578	broad.mit.edu	37	7	88965809	88965809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88965809G>T	ENST00000333190.4	+	4	4122	c.3513G>T	c.(3511-3513)aaG>aaT	p.K1171N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1171							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATGCAGAAGCAACTCCTAT	0.468										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3511-3513)aaG>aaT		zinc finger protein 804B							76.0	68.0	71.0					7																	88965809		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965809G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3513G>T	7.37:g.88965809G>T	ENSP00000329638:p.Lys1171Asn	HNSCC(36;0.09)					p.K1171N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4122	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1171					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3513G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150466	0.57151	.	.	ENSG00000182348	ENST00000333190	T	0.06687	3.27	4.98	-1.22	0.09494	.	0.000000	0.64402	D	0.000003	T	0.20941	0.0504	M	0.65975	2.015	0.35445	D	0.795245	D	0.89917	1.0	D	0.77004	0.989	T	0.07597	-1.0764	10	0.62326	D	0.03	-24.449	10.2355	0.43280	0.5823:0.0:0.4177:0.0	.	1171	A4D1E1	Z804B_HUMAN	N	1171	ENSP00000329638:K1171N	ENSP00000329638:K1171N	K	+	3	2	ZNF804B	88803745	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	1.653000	0.37323	-0.084000	0.12595	-0.302000	0.09304	AAG		0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		6	76	1	0	5.9392e-07	1	6.91975e-07	6	76				
DKK4	27121	broad.mit.edu	37	8	42234556	42234556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234556G>A	ENST00000220812.2	-	1	194	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	3					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGGACGGCCGCCACCATCCT	0.647																																						ENST00000220812.2																			0				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(7-9)gCg>gTg		dickkopf WNT signaling pathway inhibitor 4							32.0	30.0	30.0					8																	42234556		2203	4300	6503	SO:0001583	missense	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42234556G>A	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.8C>T	8.37:g.42234556G>A	ENSP00000220812:p.Ala3Val						p.A3V	NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		1	194	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	3					Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	c.8C>T	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	g	1.666	-0.510276	0.04231	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.26518	1.73	5.52	-1.13	0.09775	.	1.252050	0.05808	N	0.613544	T	0.07908	0.0198	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33954	-0.9848	10	0.02654	T	1	-16.6621	9.5584	0.39353	0.7005:0.0:0.2995:0.0	.	3	Q9UBT3	DKK4_HUMAN	V	3	ENSP00000220812:A3V	ENSP00000220812:A3V	A	-	2	0	DKK4	42353713	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.044000	0.13992	-0.451000	0.07097	-0.733000	0.03571	GCG		0.647	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			8	19	0	0	0	1	0	8	19				
FLNA	2316	broad.mit.edu	37	X	153581704	153581704	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153581704C>A	ENST00000369850.3	-	37	6218	c.5982G>T	c.(5980-5982)gaG>gaT	p.E1994D	FLNA_ENST00000369856.3_Missense_Mutation_p.E127D|FLNA_ENST00000422373.1_Missense_Mutation_p.E1986D|FLNA_ENST00000344736.4_Missense_Mutation_p.E1954D|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.E1986D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1994					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACAGGGCTCCTCCCGGCCCG	0.647																																						ENST00000422373.1																			0				breast(6)	6						c.(5956-5958)gaG>gaT		filamin A, alpha							57.0	64.0	61.0					X																	153581704		2075	4171	6246	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581704C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5982G>T	X.37:g.153581704C>A	ENSP00000358866:p.Glu1994Asp					FLNA_ENST00000344736.4_Missense_Mutation_p.E1954D|FLNA_ENST00000360319.4_Missense_Mutation_p.E1986D|FLNA_ENST00000369850.3_Missense_Mutation_p.E1994D|FLNA_ENST00000369856.3_Missense_Mutation_p.E127D	p.E1986D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			36	6206	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1994					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.5958G>T	CCDS48194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.01|10.01	1.233518|1.233518	0.22626|0.22626	.|.	.|.	ENSG00000196924|ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736|ENST00000438732	T;T;T;D;T|.	0.84589|.	0.93;0.93;0.93;-1.87;0.93|.	5.42|5.42	3.65|3.65	0.41850|0.41850	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61388|0.61388	0.2343|0.2343	M|M	0.66439|0.66439	2.03|2.03	0.54753|0.54753	D|D	0.999982|0.999982	B;B;P;P|.	0.37824|.	0.001;0.0;0.609;0.609|.	B;B;P;P|.	0.48677|.	0.012;0.001;0.586;0.586|.	T|T	0.58989|0.58989	-0.7538|-0.7538	10|5	0.26408|.	T|.	0.33|.	.|.	6.8054|6.8054	0.23774|0.23774	0.1528:0.6854:0.0:0.1617|0.1528:0.6854:0.0:0.1617	.|.	127;1986;1994;1994|.	E9PHF0;P21333-2;P21333;E9KL45|.	.;.;FLNA_HUMAN;.|.	D|M	1986;1986;1994;127;1954|219	ENSP00000353467:E1986D;ENSP00000416926:E1986D;ENSP00000358866:E1994D;ENSP00000358872:E127D;ENSP00000358863:E1954D|.	ENSP00000358863:E1954D|.	E|R	-|-	3|2	2|0	FLNA|FLNA	153234898|153234898	0.979000|0.979000	0.34478|0.34478	0.999000|0.999000	0.59377|0.59377	0.362000|0.362000	0.29581|0.29581	0.293000|0.293000	0.19029|0.19029	1.071000|1.071000	0.40834|0.40834	0.436000|0.436000	0.28706|0.28706	GAG|AGG		0.647	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			6	89	1	0	5.18039e-06	1	5.91835e-06	6	89				
CDKN2D	1032	broad.mit.edu	37	19	10675645	10675645	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10675645G>A	ENST00000393599.2	-	0	1422				KRI1_ENST00000361821.5_Silent_p.P80P|KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000312962.6_Silent_p.P84P	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GATAAATGCGGGGGTCCTTCT	0.507											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(250-252)ccC>ccT		KRI1 homolog (S. cerevisiae)							115.0	121.0	119.0					19																	10675645		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10675645G>A		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10675645G>A			OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	666	KRI1_ENST00000361821.5_Silent_p.P80P|KRI1_ENST00000537964.1_5'UTR	p.P84P	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	271	-			84					Q13102|Q6FGE9	Silent	SNP	ENST00000393599.2	37	c.252C>T	CCDS12244.1																																																																																				0.507	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		39	87	0	0	0	1	0	39	87				
TTC37	9652	broad.mit.edu	37	5	94872782	94872782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94872782C>T	ENST00000358746.2	-	9	905	c.607G>A	c.(607-609)Gta>Ata	p.V203I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	203						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTATAAAGTACTTGGTGATCT	0.299																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(607-609)Gta>Ata		tetratricopeptide repeat domain 37							67.0	70.0	69.0					5																	94872782		2200	4298	6498	SO:0001583	missense	9652						binding	g.chr5:94872782C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.607G>A	5.37:g.94872782C>T	ENSP00000351596:p.Val203Ile						p.V203I	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			9	905	-			203					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.607G>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	4.660	0.122628	0.08931	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.76709	-1.04;-0.0	5.6	-4.09	0.03951	.	0.825388	0.11127	N	0.596850	T	0.54319	0.1851	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35943	-0.9768	10	0.35671	T	0.21	.	7.6888	0.28557	0.0:0.1326:0.2472:0.6202	.	155;203	D6RCE2;Q6PGP7	.;TTC37_HUMAN	I	203;155	ENSP00000351596:V203I;ENSP00000423742:V155I	ENSP00000351596:V203I	V	-	1	0	TTC37	94898538	0.006000	0.16342	0.002000	0.10522	0.448000	0.32197	0.484000	0.22308	-0.610000	0.05716	-1.037000	0.02385	GTA		0.299	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		12	25	0	0	0	1	0	12	25				
GPR128	84873	broad.mit.edu	37	3	100365443	100365443	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365443T>C	ENST00000273352.3	+	10	1409	c.1141T>C	c.(1141-1143)Tat>Cat	p.Y381H	GPR128_ENST00000475887.1_Missense_Mutation_p.Y86H|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	381	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACTCTATTCCTATGCCTGTGT	0.378																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1141-1143)Tat>Cat		G protein-coupled receptor 128							84.0	87.0	86.0					3																	100365443		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365443T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1141T>C	3.37:g.100365443T>C	ENSP00000273352:p.Tyr381His					GPR128_ENST00000475887.1_Missense_Mutation_p.Y86H	p.Y381H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1409	+			381			GPS.		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1141T>C	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	6.032	0.374229	0.11409	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.68903	-0.36;-0.36	5.62	4.45	0.53987	GPS domain (3);	0.378650	0.22688	N	0.056852	T	0.55369	0.1916	L	0.43152	1.355	0.27804	N	0.942378	B;B	0.22909	0.003;0.077	B;B	0.22386	0.02;0.039	T	0.50224	-0.8853	10	0.40728	T	0.16	.	7.4984	0.27503	0.0:0.1684:0.0:0.8316	.	86;381	E9PHI0;Q96K78	.;GP128_HUMAN	H	381;86	ENSP00000273352:Y381H;ENSP00000419788:Y86H	ENSP00000273352:Y381H	Y	+	1	0	GPR128	101848133	0.976000	0.34144	0.993000	0.49108	0.111000	0.19643	1.291000	0.33330	0.938000	0.37419	0.533000	0.62120	TAT		0.378	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			5	43	0	0	0	1	0	5	43				
GPCPD1	56261	broad.mit.edu	37	20	5560710	5560710	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5560710A>C	ENST00000379019.4	-	7	629	c.417T>G	c.(415-417)taT>taG	p.Y139*	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	139					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTTTTTCAGAATAATGCAAAC	0.313																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(415-417)taT>taG		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							69.0	70.0	69.0					20																	5560710		2203	4296	6499	SO:0001587	stop_gained	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5560710A>C		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.417T>G	20.37:g.5560710A>C	ENSP00000368305:p.Tyr139*					GPCPD1_ENST00000481038.1_5'UTR	p.Y139*	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			7	629	-			139					D3DW06|Q9BQL8|Q9NUX0	Nonsense_Mutation	SNP	ENST00000379019.4	37	c.417T>G	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	A	38	6.638265	0.97726	.	.	ENSG00000125772	ENST00000379019	.	.	.	5.53	4.44	0.53790	.	0.190732	0.47455	D	0.000225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2826	11.4641	0.50227	0.9296:0.0:0.0704:0.0	.	.	.	.	X	139	.	ENSP00000368305:Y139X	Y	-	3	2	GPCPD1	5508710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.546000	0.53656	1.051000	0.40369	0.477000	0.44152	TAT		0.313	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		28	30	0	0	0	1	0	28	30				
PLEKHM1P	440456	broad.mit.edu	37	17	62796730	62796730	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62796730G>A	ENST00000582986.1	-	0	1190					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										TCCTGCTGAGGCCGGACCTTC	0.667																																						ENST00000582986.1																			0																																																			0							g.chr17:62796730G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796730G>A								NR_024386.1						0	1190	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.667	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		14	29	0	0	0	1	0	14	29				
PRKAA1	5562	broad.mit.edu	37	5	40765006	40765006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40765006G>A	ENST00000397128.2	-	7	1164	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.R401C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	386					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGGGTATGGCGTGCCCTTGGT	0.438																																						ENST00000397128.2																			0				breast(1)	1						c.(1156-1158)Cgc>Tgc		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						107.0	97.0	100.0					5																	40765006		1969	4153	6122	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40765006G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1156C>T	5.37:g.40765006G>A	ENSP00000380317:p.Arg386Cys					PRKAA1_ENST00000354209.3_Missense_Mutation_p.R401C	p.R386C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			7	1164	-			386					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.1156C>T	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227325	0.79576	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.73575	-0.69;-0.76	6.16	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.67103	0.891;0.949	D	0.84888	0.0835	10	0.66056	D	0.02	-11.4319	12.0544	0.53527	0.0631:0.0:0.8164:0.1206	.	386;401	Q13131;Q13131-2	AAPK1_HUMAN;.	C	386;401	ENSP00000380317:R386C;ENSP00000346148:R401C	ENSP00000346148:R401C	R	-	1	0	AC008810.1	40800763	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.437000	0.73421	1.606000	0.50161	0.650000	0.86243	CGC		0.438	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		23	28	0	0	0	1	0	23	28				
HEATR1	55127	broad.mit.edu	37	1	236722336	236722336	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236722336T>C	ENST00000366582.3	-	35	4984	c.4870A>G	c.(4870-4872)Aat>Gat	p.N1624D	HEATR1_ENST00000366581.2_Missense_Mutation_p.N1543D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1624					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTTGTTATTCAAAAGGTCC	0.483																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(4870-4872)Aat>Gat		HEAT repeat containing 1							135.0	123.0	127.0					1																	236722336		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236722336T>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4870A>G	1.37:g.236722336T>C	ENSP00000355541:p.Asn1624Asp					HEATR1_ENST00000366581.2_Missense_Mutation_p.N1543D	p.N1624D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		35	4984	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1624					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.4870A>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241157	0.79912	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64618	-0.11;-0.11	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77004	0.946;0.989	T	0.82234	-0.0558	10	0.49607	T	0.09	.	16.1341	0.81471	0.0:0.0:0.0:1.0	.	1543;1624	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	D	1624;1543	ENSP00000355541:N1624D;ENSP00000355540:N1543D	ENSP00000355540:N1543D	N	-	1	0	HEATR1	234788959	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	7.443000	0.80521	2.220000	0.72140	0.528000	0.53228	AAT		0.483	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		45	56	0	0	0	1	0	45	56				
IQGAP2	10788	broad.mit.edu	37	5	75927843	75927843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75927843C>T	ENST00000274364.6	+	15	2069	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	IQGAP2_ENST00000502745.1_Missense_Mutation_p.S144F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S150F|IQGAP2_ENST00000396234.3_Missense_Mutation_p.S144F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	591					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGCTCAAATCTGAAAGAGGT	0.328																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1771-1773)tCt>tTt		IQ motif containing GTPase activating protein 2							97.0	91.0	93.0					5																	75927843		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75927843C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1772C>T	5.37:g.75927843C>T	ENSP00000274364:p.Ser591Phe					IQGAP2_ENST00000396234.3_Missense_Mutation_p.S144F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S144F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S150F	p.S591F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	15	2069	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	591					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.1772C>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.095936	0.36952	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000509074;ENST00000502745	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.71	3.89	0.44902	.	0.312116	0.33854	N	0.004495	T	0.36991	0.0987	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.10450	0.003;0.003;0.005;0.002	T	0.25082	-1.0142	10	0.32370	T	0.25	-1.9939	9.3162	0.37934	0.1645:0.6774:0.1582:0.0	.	150;541;144;591	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	F	591;150;564;541;144;144;144;144;144	ENSP00000274364:S591F;ENSP00000442313:S150F;ENSP00000423672:S564F;ENSP00000421097:S541F;ENSP00000422661:S144F;ENSP00000379535:S144F;ENSP00000425351:S144F;ENSP00000426027:S144F	ENSP00000274364:S591F	S	+	2	0	IQGAP2	75963599	0.095000	0.21747	0.008000	0.14137	0.426000	0.31534	1.544000	0.36158	0.741000	0.32674	-0.182000	0.12963	TCT		0.328	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		37	44	0	0	0	1	0	37	44				
NOP56	10528	broad.mit.edu	37	20	2635158	2635158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2635158G>A	ENST00000329276.5	+	4	823	c.307G>A	c.(307-309)Gca>Aca	p.A103T	SNORA51_ENST00000606420.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	103					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.A103T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGGTGCCGCAATACAGGA	0.517																																						ENST00000329276.5																			2	Substitution - Missense(2)	p.A103T(2)	large_intestine(1)|endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(307-309)Gca>Aca		NOP56 ribonucleoprotein							119.0	111.0	114.0					20																	2635158		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2635158G>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.307G>A	20.37:g.2635158G>A	ENSP00000370589:p.Ala103Thr						p.A103T	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			4	823	+			103					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.307G>A	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829896	0.91036	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.60797	0.16;0.81	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.80746	2.51	0.80722	D	1	P	0.38335	0.627	B	0.24394	0.053	T	0.64927	-0.6292	10	0.52906	T	0.07	-12.981	17.5206	0.87786	0.0:0.0:1.0:0.0	.	103	O00567	NOP56_HUMAN	T	103	ENSP00000370589:A103T;ENSP00000388497:A103T	ENSP00000370589:A103T	A	+	1	0	NOP56	2583158	1.000000	0.71417	0.982000	0.44146	0.938000	0.57974	9.522000	0.98032	2.725000	0.93324	0.555000	0.69702	GCA		0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		31	43	0	0	0	1	0	31	43				
REPS2	9185	broad.mit.edu	37	X	17065504	17065504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17065504G>A	ENST00000357277.3	+	6	977	c.806G>A	c.(805-807)aGc>aAc	p.S269N	SNORA16_ENST00000364597.1_RNA|REPS2_ENST00000303843.7_Missense_Mutation_p.S268N|REPS2_ENST00000380064.4_Missense_Mutation_p.S129N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	269					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAGGATAACAGCAGTTACCCC	0.418													G|||	1	0.000264901	0.0	0.0	3775	,	,		13915	0.001		0.0	False		,,,				2504	0.0					ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(805-807)aGc>aAc		RALBP1 associated Eps domain containing 2							193.0	163.0	173.0					X																	17065504		2203	4300	6503	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17065504G>A	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.806G>A	X.37:g.17065504G>A	ENSP00000349824:p.Ser269Asn					REPS2_ENST00000303843.7_Missense_Mutation_p.S268N|REPS2_ENST00000380064.4_Missense_Mutation_p.S129N	p.S269N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN			6	977	+	Hepatocellular(33;0.183)		269					A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.806G>A	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791538	0.31685	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.29142	1.58;1.58;1.58	5.18	-3.52	0.04682	EF-hand-like domain (1);	0.347860	0.28338	N	0.015704	T	0.12305	0.0299	N	0.11560	0.145	0.21064	N	0.999793	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.002;0.005;0.007	T	0.08027	-1.0742	10	0.49607	T	0.09	-5.3188	5.9887	0.19448	0.1858:0.1251:0.564:0.125	.	129;268;269	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	N	269;269;268;129	ENSP00000349824:S269N;ENSP00000306033:S268N;ENSP00000369404:S129N	ENSP00000306033:S268N	S	+	2	0	REPS2	16975425	0.008000	0.16893	0.142000	0.22268	0.966000	0.64601	-2.051000	0.01402	-0.807000	0.04393	0.529000	0.55759	AGC		0.418	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		50	87	0	0	0	1	0	50	87				
GALNT10	55568	broad.mit.edu	37	5	153795489	153795489	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153795489C>T	ENST00000297107.6	+	11	1787	c.1650C>T	c.(1648-1650)cgC>cgT	p.R550R	GALNT10_ENST00000377661.2_Silent_p.R488R|GALNT10_ENST00000377657.3_Silent_p.R223R|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	550	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGAAATACCGCAAAGTAAGAT	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1648-1650)cgC>cgT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							74.0	69.0	71.0					5																	153795489		2203	4300	6503	SO:0001819	synonymous_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153795489C>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1650C>T	5.37:g.153795489C>T						SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.R223R|GALNT10_ENST00000377661.2_Silent_p.R488R	p.R550R	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		11	1787	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	550			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	c.1650C>T	CCDS4325.1																																																																																				0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		4	50	0	0	0	1	0	4	50				
NUFIP1	26747	broad.mit.edu	37	13	45533618	45533618	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533618T>G	ENST00000379161.4	-	7	965	c.919A>C	c.(919-921)Aga>Cga	p.R307R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	307					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GTGACTGCTCTCTGTCTAGAA	0.443																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(919-921)Aga>Cga		nuclear fragile X mental retardation protein interacting protein 1							234.0	208.0	217.0					13																	45533618		2203	4300	6503	SO:0001819	synonymous_variant	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45533618T>G	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.919A>C	13.37:g.45533618T>G							p.R307R	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	7	965	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	307					Q8WVM5|Q96SG1	Silent	SNP	ENST00000379161.4	37	c.919A>C	CCDS9393.1																																																																																				0.443	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		47	104	0	0	0	1	0	47	104				
OSMR	9180	broad.mit.edu	37	5	38933358	38933358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38933358G>A	ENST00000274276.3	+	18	3154	c.2752G>A	c.(2752-2754)Gtg>Atg	p.V918M		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	918					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGAATTATGTGTCCCAGTT	0.443																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2752-2754)Gtg>Atg		oncostatin M receptor							80.0	86.0	84.0					5																	38933358		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933358G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2752G>A	5.37:g.38933358G>A	ENSP00000274276:p.Val918Met						p.V918M	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			18	3154	+	all_lung(31;0.000365)		918					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2752G>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851105	0.71719	.	.	ENSG00000145623	ENST00000274276	T	0.51071	0.72	5.85	4.07	0.47477	.	2.680230	0.01216	N	0.007970	T	0.68137	0.2968	M	0.61703	1.905	0.32366	N	0.556521	D	0.89917	1.0	D	0.87578	0.998	T	0.45366	-0.9266	10	0.54805	T	0.06	.	8.1342	0.31046	0.1766:0.0:0.8234:0.0	.	918	Q99650	OSMR_HUMAN	M	918	ENSP00000274276:V918M	ENSP00000274276:V918M	V	+	1	0	OSMR	38969115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.653000	0.37323	1.476000	0.48215	0.655000	0.94253	GTG		0.443	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		12	68	0	0	0	1	0	12	68				
MIER3	166968	broad.mit.edu	37	5	56219613	56219613	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56219613G>A	ENST00000381199.3	-	12	1110	c.1100C>T	c.(1099-1101)aCg>aTg	p.T367M	MIER3_ENST00000381213.3_Missense_Mutation_p.T366M|MIER3_ENST00000409421.1_Missense_Mutation_p.T304M|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381226.3_Missense_Mutation_p.T372M			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AGCATTTACCGTCCCACCCAA	0.403																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.(1114-1116)aCg>aTg		mesoderm induction early response 1, family member 3							152.0	148.0	149.0					5																	56219613		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56219613G>A	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1100C>T	5.37:g.56219613G>A	ENSP00000370596:p.Thr367Met					MIER3_ENST00000381213.3_Missense_Mutation_p.T366M|MIER3_ENST00000409421.1_Missense_Mutation_p.T304M|MIER3_ENST00000381199.3_Missense_Mutation_p.T367M|SETD9_ENST00000541720.1_Intron	p.T372M			Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	12	1130	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	367					B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.1115C>T		.	.	.	.	.	.	.	.	.	.	G	16.61	3.170702	0.57584	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.98	5.98	0.97165	.	0.499967	0.23418	N	0.048387	T	0.27594	0.0678	N	0.08118	0	0.34807	D	0.73737	P;P;P	0.51057	0.898;0.91;0.941	B;B;B	0.38106	0.154;0.258;0.265	T	0.44003	-0.9356	10	0.52906	T	0.07	-1.7487	13.6239	0.62153	0.0705:0.0:0.9295:0.0	.	367;372;366	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	M	372;366;367;304	ENSP00000370624:T372M;ENSP00000370611:T366M;ENSP00000370596:T367M;ENSP00000386584:T304M	ENSP00000370596:T367M	T	-	2	0	MIER3	56255370	1.000000	0.71417	0.900000	0.35374	0.998000	0.95712	6.879000	0.75572	2.838000	0.97847	0.563000	0.77884	ACG		0.403	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		7	155	0	0	0	1	0	7	155				
TSPAN17	26262	broad.mit.edu	37	5	176084557	176084557	+	Missense_Mutation	SNP	C	C	T	rs199830470		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084557C>T	ENST00000503045.1	+	9	843	c.788C>T	c.(787-789)aCg>aTg	p.T263M	TSPAN17_ENST00000508164.1_Missense_Mutation_p.T283M|TSPAN17_ENST00000310032.8_Missense_Mutation_p.T286M|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000405525.2_3'UTR			Q96FV3	TSN17_HUMAN	tetraspanin 17	0					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGGCTTACGCCCACCATT	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17313	0.0		0.0	False		,,,				2504	0.0					ENST00000310032.8																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(856-858)aCg>aTg		tetraspanin 17		C	,MET/THR,MET/THR	0,4402		0,0,2201	31.0	31.0	31.0		,848,857	-4.0	0.0	5		31	1,8565		0,1,4282	yes	utr-3,missense,missense	TSPAN17	NM_001006616.2,NM_130465.4,NM_012171.2	,81,81	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	,benign,benign	,283/330,286/333	176084557	1,12967	2201	4283	6484	SO:0001583	missense	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176084557C>T	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.788C>T	5.37:g.176084557C>T	ENSP00000425212:p.Thr263Met					TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Missense_Mutation_p.T283M|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.T263M	p.T286M	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1086	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	130					Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	ENST00000503045.1	37	c.857C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.56	1.383935	0.25031	0.0	1.17E-4	ENSG00000048140	ENST00000310032;ENST00000508164;ENST00000503045	T;T;T	0.16743	3.18;3.18;2.32	3.83	-3.95	0.04118	.	3.779910	0.00960	N	0.003090	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.24368	-1.0162	10	0.62326	D	0.03	.	0.5114	0.00596	0.4064:0.2049:0.1367:0.252	.	283	Q96FV3-4	.	M	286;283;263	ENSP00000309036:T286M;ENSP00000422053:T283M;ENSP00000425212:T263M	ENSP00000309036:T286M	T	+	2	0	TSPAN17	176017163	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.622000	0.05553	-0.933000	0.03737	-0.218000	0.12543	ACG		0.562	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			6	16	0	0	0	1	0	6	16				
NAA25	80018	broad.mit.edu	37	12	112481451	112481451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112481451C>T	ENST00000261745.4	-	18	2476	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	743						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCAATAAATCGCTTTCCTGT	0.413																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2227-2229)cGa>cAa		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							72.0	70.0	70.0					12																	112481451		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112481451C>T	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2228G>A	12.37:g.112481451C>T	ENSP00000261745:p.Arg743Gln						p.R743Q	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			18	2476	-			743					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2228G>A	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050079	0.36181	.	.	ENSG00000111300	ENST00000261745	T	0.21361	2.01	5.79	3.97	0.46021	.	0.284730	0.29799	N	0.011163	T	0.08846	0.0219	N	0.08118	0	0.31527	N	0.661664	B;B	0.13594	0.008;0.001	B;B	0.06405	0.002;0.0	T	0.14755	-1.0461	10	0.19590	T	0.45	-2.7332	6.0553	0.19809	0.0:0.6364:0.1472:0.2163	.	743;743	A8K8X0;Q14CX7	.;NAA25_HUMAN	Q	743	ENSP00000261745:R743Q	ENSP00000261745:R743Q	R	-	2	0	NAA25	110965834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.213000	0.32407	1.439000	0.47511	0.655000	0.94253	CGA		0.413	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		26	52	0	0	0	1	0	26	52				
LRRC37A4P	55073	broad.mit.edu	37	17	43625859	43625859	+	RNA	SNP	G	G	A	rs561361739		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43625859G>A	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							GTGATGGTAAGTCCCAGGTCC	0.493													N|||	1	0.000199681	0.0	0.0	5008	,	,		28293	0.0		0.0	False		,,,				2504	0.001					ENST00000586348.1																			0																																																			0							g.chr17:43625859G>A																													17.37:g.43625859G>A														0	45	+									RNA	SNP	ENST00000586411.1	37																																																																																						0.493	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			38	73	0	0	0	1	0	38	73				
ENSA	2029	broad.mit.edu	37	1	150599945	150599945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150599945C>A	ENST00000369014.5	-	2	306	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	ENSA_ENST00000339643.5_Missense_Mutation_p.G61W|ENSA_ENST00000361631.5_Missense_Mutation_p.G57W|ENSA_ENST00000362052.7_Missense_Mutation_p.G61W|ENSA_ENST00000361532.5_Missense_Mutation_p.G57W|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000513281.1_Missense_Mutation_p.G57W|ENSA_ENST00000369016.4_Missense_Mutation_p.G61W|ENSA_ENST00000503241.1_Missense_Mutation_p.G61W|ENSA_ENST00000356527.5_Missense_Mutation_p.G61W|ENSA_ENST00000271690.8_Missense_Mutation_p.G61W|ENSA_ENST00000369009.3_Missense_Mutation_p.G61W|ENSA_ENST00000503345.1_Missense_Mutation_p.G61W			O43768	ENSA_HUMAN	endosulfine alpha	61					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCATACCCCTTTCTGGAGT	0.483																																					Esophageal Squamous(188;763 2078 3002 3411 26027)	ENST00000271690.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4						c.(181-183)Ggg>Tgg		endosulfine alpha							83.0	84.0	83.0					1																	150599945		2203	4300	6503	SO:0001583	missense	2029				cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	g.chr1:150599945C>A	X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.181G>T	1.37:g.150599945C>A	ENSP00000358010:p.Gly61Trp					ENSA_ENST00000513281.1_Missense_Mutation_p.G57W|ENSA_ENST00000369014.5_Missense_Mutation_p.G61W|ENSA_ENST00000369009.3_Missense_Mutation_p.G61W|ENSA_ENST00000369016.4_Missense_Mutation_p.G61W|ENSA_ENST00000503241.1_Missense_Mutation_p.G61W|ENSA_ENST00000503345.1_Missense_Mutation_p.G61W|ENSA_ENST00000362052.7_Missense_Mutation_p.G61W|ENSA_ENST00000356527.5_Missense_Mutation_p.G61W|ENSA_ENST00000339643.5_Missense_Mutation_p.G61W|ENSA_ENST00000361631.5_Missense_Mutation_p.G57W|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Missense_Mutation_p.G57W	p.G61W	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)		2	287	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		61					A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Missense_Mutation	SNP	ENST00000369014.5	37	c.181G>T	CCDS958.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614567	0.87359	.	.	ENSG00000143420	ENST00000369016;ENST00000369014;ENST00000369009;ENST00000361532;ENST00000361631;ENST00000339643;ENST00000271690;ENST00000356527;ENST00000502246;ENST00000513281;ENST00000503345;ENST00000503241;ENST00000362052	T	0.64438	-0.1	5.16	5.16	0.70880	.	0.052611	0.85682	D	0.000000	T	0.80884	0.4709	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.999;0.999;1.0;1.0	D	0.85435	0.1151	10	0.87932	D	0	.	16.1556	0.81664	0.0:1.0:0.0:0.0	.	61;61;61;61;61;57;57	A6NMQ3;O43768-8;E9PB69;O43768;O43768-3;O43768-5;O43768-7	.;.;.;ENSA_HUMAN;.;.;.	W	61;61;61;57;57;61;61;61;61;57;61;61;61	ENSP00000358012:G61W	ENSP00000271690:G61W	G	-	1	0	ENSA	148866569	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.715000	0.84713	2.401000	0.81631	0.561000	0.74099	GGG		0.483	ENSA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084720.2	NM_207042		9	122	1	0	0.000274275	1	0.000298791	9	122				
ASPH	444	broad.mit.edu	37	8	62475386	62475386	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62475386T>C	ENST00000379454.4	-	18	1541	c.1354A>G	c.(1354-1356)Aat>Gat	p.N452D	ASPH_ENST00000541428.1_Missense_Mutation_p.N423D	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	452					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAAGTATCATTGGGAAATAGT	0.358																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1267-1269)Aat>Gat		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						115.0	113.0	114.0					8																	62475386		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62475386T>C	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1354A>G	8.37:g.62475386T>C	ENSP00000368767:p.Asn452Asp					ASPH_ENST00000379454.4_Missense_Mutation_p.N452D	p.N423D	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			18	1427	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	452					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1267A>G	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	6.167	0.398952	0.11696	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.36699	1.24;1.24	5.45	3.18	0.36537	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.408050	0.28841	N	0.013974	T	0.12817	0.0311	N	0.02802	-0.49	0.58432	D	0.999998	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.08452	-1.0721	10	0.11794	T	0.64	-4.4458	6.5681	0.22523	0.0:0.3115:0.0:0.6885	.	423;452	F5H667;Q12797	.;ASPH_HUMAN	D	423;452	ENSP00000437864:N423D;ENSP00000368767:N452D	ENSP00000368767:N452D	N	-	1	0	ASPH	62637940	0.998000	0.40836	0.125000	0.21846	0.499000	0.33736	2.623000	0.46435	0.510000	0.28216	-0.297000	0.09499	AAT		0.358	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		24	57	0	0	0	1	0	24	57				
KIAA1429	25962	broad.mit.edu	37	8	95531688	95531688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95531688G>A	ENST00000297591.5	-	9	2113	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	KIAA1429_ENST00000437199.1_Missense_Mutation_p.H680Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.H680Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	680					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCAAGAAGTGATGACTGTGA	0.388																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2038-2040)Cac>Tac		KIAA1429							93.0	93.0	93.0					8																	95531688		2177	4229	6406	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531688G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2038C>T	8.37:g.95531688G>A	ENSP00000297591:p.His680Tyr					KIAA1429_ENST00000437199.1_Missense_Mutation_p.H680Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.H680Y	p.H680Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2113	-	Breast(36;3.29e-05)		680					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.2038C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688367	0.68271	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.67171	-0.25;-0.25;-0.25	5.4	4.5	0.54988	.	0.094736	0.64402	D	0.000001	T	0.57533	0.2060	N	0.24115	0.695	0.54753	D	0.999986	P;P	0.46912	0.886;0.886	B;B	0.44044	0.346;0.439	T	0.62647	-0.6810	10	0.54805	T	0.06	-6.2489	15.5614	0.76249	0.0:0.0:0.8609:0.1391	.	680;680	Q69YN4-4;Q69YN4	.;VIR_HUMAN	Y	680	ENSP00000297591:H680Y;ENSP00000395600:H680Y;ENSP00000398390:H680Y	ENSP00000297591:H680Y	H	-	1	0	KIAA1429	95600864	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.866000	0.63005	1.372000	0.46190	0.462000	0.41574	CAC		0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		16	92	0	0	0	1	0	16	92				
STOX2	56977	broad.mit.edu	37	4	184930527	184930527	+	Missense_Mutation	SNP	C	C	T	rs371082829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930527C>T	ENST00000308497.4	+	3	1971	c.536C>T	c.(535-537)aCg>aTg	p.T179M	STOX2_ENST00000438269.1_Missense_Mutation_p.T179M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	179					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGGACCATCACGCCCTCTGCC	0.557																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(535-537)aCg>aTg		storkhead box 2		C	MET/THR	1,4281		0,1,2140	93.0	98.0	96.0		536	5.2	1.0	4		96	0,8478		0,0,4239	no	missense	STOX2	NM_020225.1	81	0,1,6379	TT,TC,CC		0.0,0.0234,0.0078	probably-damaging	179/927	184930527	1,12759	2141	4239	6380	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930527C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.536C>T	4.37:g.184930527C>T	ENSP00000311257:p.Thr179Met					STOX2_ENST00000438269.1_Missense_Mutation_p.T179M	p.T179M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1971	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	179					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.536C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096595	0.94197	2.34E-4	0.0	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.78707	-0.2;-1.2;-1.16	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84866	0.0822	10	0.44086	T	0.13	-19.9537	19.3982	0.94617	0.0:1.0:0.0:0.0	.	179	Q9P2F5	STOX2_HUMAN	M	179;179;117	ENSP00000311257:T179M;ENSP00000390127:T179M;ENSP00000425388:T117M	ENSP00000311257:T179M	T	+	2	0	STOX2	185167521	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	5.564000	0.67359	2.894000	0.99253	0.655000	0.94253	ACG		0.557	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		23	60	0	0	0	1	0	23	60				
CCDC88C	440193	broad.mit.edu	37	14	91779811	91779811	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91779811C>A	ENST00000389857.6	-	15	2435	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	783					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCCAAGGTCTGCGTCTTGT	0.677																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2347-2349)caG>caT		coiled-coil domain containing 88C							20.0	23.0	22.0					14																	91779811		2114	4230	6344	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91779811C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2349G>T	14.37:g.91779811C>A	ENSP00000374507:p.Gln783His						p.Q783H	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	2435	-		all_cancers(154;0.0468)	783					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2349G>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226855	0.22542	.	.	ENSG00000015133	ENST00000389857	T	0.16196	2.36	4.94	4.04	0.47022	.	0.150857	0.30602	U	0.009273	T	0.21550	0.0519	M	0.75264	2.295	0.80722	D	1	B	0.26708	0.157	B	0.25884	0.064	T	0.03306	-1.1050	10	0.66056	D	0.02	-21.4936	10.5224	0.44927	0.15:0.7055:0.1445:0.0	.	783	Q9P219	DAPLE_HUMAN	H	783	ENSP00000374507:Q783H	ENSP00000374507:Q783H	Q	-	3	2	CCDC88C	90849564	1.000000	0.71417	0.987000	0.45799	0.377000	0.30045	2.663000	0.46774	1.048000	0.40298	0.561000	0.74099	CAG		0.677	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		7	13	1	0	0.000274275	1	0.000298791	7	13				
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	rs111488352	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582													G|||	7	0.00139776	0.0008	0.0	5008	,	,		18280	0.0		0.006	False		,,,				2504	0.0					ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(295-297)cCg>cTg		DiGeorge syndrome critical region gene 14		G	LEU/PRO	11,4395	17.9+/-39.9	0,11,2192	75.0	78.0	77.0		296	3.2	0.6	22	dbSNP_132	77	93,8507	51.1+/-111.2	1,91,4208	yes	missense	DGCR14	NM_022719.2	98	1,102,6400	AA,AG,GG		1.0814,0.2497,0.7996	benign	99/477	19130247	104,12902	2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19130247G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.296C>T	22.37:g.19130247G>A	ENSP00000252137:p.Pro99Leu						p.P99L	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			2	339	-	Colorectal(54;0.0993)		99					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.296C>T	CCDS13756.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	14.50	2.553078	0.45487	0.002497	0.010814	ENSG00000100056	ENST00000252137	T	0.23348	1.91	4.18	3.16	0.36331	.	0.390425	0.28883	N	0.013829	T	0.11922	0.0290	L	0.45051	1.395	0.26408	N	0.976302	P	0.48998	0.918	B	0.33521	0.165	T	0.10965	-1.0607	10	0.26408	T	0.33	-8.5837	11.7907	0.52068	0.0875:0.0:0.9125:0.0	.	99	Q96DF8	DGC14_HUMAN	L	99	ENSP00000252137:P99L	ENSP00000252137:P99L	P	-	2	0	DGCR14	17510247	0.993000	0.37304	0.569000	0.28460	0.522000	0.34438	2.879000	0.48522	0.985000	0.38656	-0.150000	0.13652	CCG		0.582	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			4	97	0	0	0	1	0	4	97				
OTOA	146183	broad.mit.edu	37	16	21742191	21742191	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21742191G>T	ENST00000286149.4	+	20	2284	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N	OTOA_ENST00000388956.4_Missense_Mutation_p.K668N|OTOA_ENST00000388957.3_Missense_Mutation_p.K423N|OTOA_ENST00000388958.3_Missense_Mutation_p.K747N			Q7RTW8	OTOAN_HUMAN	otoancorin	761					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGACCACGAAGGACTTGGGAC	0.443																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(2239-2241)aaG>aaT		otoancorin							86.0	70.0	75.0					16																	21742191		2195	4273	6468	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21742191G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2283G>T	16.37:g.21742191G>T	ENSP00000286149:p.Lys761Asn					OTOA_ENST00000286149.4_Missense_Mutation_p.K761N|OTOA_ENST00000388956.4_Missense_Mutation_p.K668N|OTOA_ENST00000388957.3_Missense_Mutation_p.K423N	p.K747N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	20	2242	+			761					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.2241G>T		.	.	.	.	.	.	.	.	.	.	G	14.22	2.471107	0.43942	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.64991	-0.13;-0.12;-0.12;-0.12	4.11	2.14	0.27477	.	0.335682	0.27971	N	0.017111	T	0.52565	0.1742	L	0.60455	1.87	0.30222	N	0.79672	P;P;P;P	0.43352	0.804;0.804;0.692;0.804	B;B;B;B	0.41764	0.234;0.311;0.366;0.234	T	0.50701	-0.8797	10	0.26408	T	0.33	-8.9077	5.8722	0.18809	0.2377:0.0:0.7623:0.0	.	761;668;423;747	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	N	747;761;668;423;156	ENSP00000373610:K747N;ENSP00000286149:K761N;ENSP00000373608:K668N;ENSP00000373609:K423N	ENSP00000286149:K761N	K	+	3	2	OTOA	21649692	1.000000	0.71417	0.990000	0.47175	0.804000	0.45430	1.844000	0.39269	1.061000	0.40601	0.609000	0.83330	AAG		0.443	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			14	3	1	0	4.14922e-12	1	5.2041e-12	14	3				
C1orf94	84970	broad.mit.edu	37	1	34663184	34663184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34663184C>T	ENST00000488417.1	+	2	799	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	C1orf94_ENST00000373374.3_Missense_Mutation_p.R37C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	227										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGACAGGGGCCGCATCCTAGG	0.542																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(679-681)Cgc>Tgc		chromosome 1 open reading frame 94							86.0	76.0	79.0					1																	34663184		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663184C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.679C>T	1.37:g.34663184C>T	ENSP00000435634:p.Arg227Cys					C1orf94_ENST00000373374.3_Missense_Mutation_p.R37C	p.R227C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			2	799	+		Myeloproliferative disorder(586;0.0393)	37					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.679C>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449601	0.12223	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.24350	1.86;1.86	4.98	1.86	0.25419	.	0.796164	0.11091	N	0.600777	T	0.17704	0.0425	L	0.29908	0.895	0.09310	N	1	P	0.47350	0.894	B	0.39840	0.311	T	0.11060	-1.0603	10	0.56958	D	0.05	6.3224	8.2052	0.31452	0.2993:0.5542:0.1464:0.0	.	227	Q6P1W5	CA094_HUMAN	C	37;227	ENSP00000362472:R37C;ENSP00000435634:R227C	ENSP00000362472:R37C	R	+	1	0	C1orf94	34435771	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.066000	0.11598	1.080000	0.41073	0.563000	0.77884	CGC		0.542	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		9	32	0	0	0	1	0	9	32				
MKI67	4288	broad.mit.edu	37	10	129903287	129903287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129903287C>A	ENST00000368654.3	-	13	7192	c.6817G>T	c.(6817-6819)Gga>Tga	p.G2273*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.G1913*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2273	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCATCACCTCCTGCTGGTTTG	0.473																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6817-6819)Gga>Tga		marker of proliferation Ki-67							281.0	257.0	265.0					10																	129903287		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903287C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6817G>T	10.37:g.129903287C>A	ENSP00000357643:p.Gly2273*					MKI67_ENST00000368653.3_Nonsense_Mutation_p.G1913*	p.G2273*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7192	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2273			16 X 122 AA approximate repeats.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.6817G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	48	13.944921	0.99771	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.0	0.946	0.19549	.	2.663150	0.01980	U	0.044742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	5.1656	0.15084	0.2022:0.6831:0.0:0.1148	.	.	.	.	X	2273;1913;2272	.	ENSP00000357642:G1913X	G	-	1	0	MKI67	129793277	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.309000	0.08145	0.103000	0.17682	0.655000	0.94253	GGA		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		91	137	1	0	2.00703e-41	1	2.70821e-41	91	137				
SFMBT1	51460	broad.mit.edu	37	3	52955739	52955739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52955739G>T	ENST00000394752.3	-	11	1622	c.1240C>A	c.(1240-1242)Ctg>Atg	p.L414M	SFMBT1_ENST00000296295.6_Missense_Mutation_p.L414M|SFMBT1_ENST00000394750.1_Missense_Mutation_p.L414M|SFMBT1_ENST00000358080.2_Missense_Mutation_p.L414M	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	414					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGGAGCCACAGGTAGGAGCCT	0.507																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1240-1242)Ctg>Atg		Scm-like with four mbt domains 1							146.0	144.0	145.0					3																	52955739		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52955739G>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1240C>A	3.37:g.52955739G>T	ENSP00000378235:p.Leu414Met					SFMBT1_ENST00000296295.6_Missense_Mutation_p.L414M|SFMBT1_ENST00000394750.1_Missense_Mutation_p.L414M|SFMBT1_ENST00000358080.2_Missense_Mutation_p.L414M	p.L414M	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	11	1622	-			414					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.1240C>A	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713371	0.48517	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.43	3.63	0.41609	.	0.404764	0.25222	N	0.032240	T	0.38983	0.1061	L	0.37561	1.115	0.45979	D	0.998797	P;P	0.41498	0.712;0.752	B;P	0.44860	0.396;0.462	T	0.07809	-1.0753	10	0.25751	T	0.34	.	7.6745	0.28478	0.1411:0.1355:0.7234:0.0	.	414;414	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	M	414	ENSP00000378235:L414M;ENSP00000350789:L414M;ENSP00000296295:L414M;ENSP00000378233:L414M	ENSP00000296295:L414M	L	-	1	2	SFMBT1	52930779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.702000	0.37836	0.845000	0.35118	0.655000	0.94253	CTG		0.507	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		6	190	1	0	0.0293803	1	0.0301098	6	190				
MEP1A	4224	broad.mit.edu	37	6	46806765	46806765	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46806765C>T	ENST00000230588.4	+	14	2142	c.2133C>T	c.(2131-2133)gcC>gcT	p.A711A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	711				AVQ -> SAE (in Ref. 1; AAA21338 and 7; no nucleotide entry). {ECO:0000305}.	digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCTGTCAGGCCGTGCAGGTGC	0.587																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2131-2133)gcC>gcT		meprin A, alpha (PABA peptide hydrolase)							130.0	119.0	123.0					6																	46806765		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806765C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2133C>T	6.37:g.46806765C>T							p.A711A	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2142	+			711	AVQ -> SAE (in Ref. 1; AAA21338 and 7; no nucleotide entry).				A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.2133C>T	CCDS4918.1																																																																																				0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		39	75	0	0	0	1	0	39	75				
CORO6	84940	broad.mit.edu	37	17	27946150	27946150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27946150G>A	ENST00000445145.2	-	3	380	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	CORO6_ENST00000345068.5_Missense_Mutation_p.L127F|CORO6_ENST00000388767.3_Missense_Mutation_p.L127F|CORO6_ENST00000580212.1_Missense_Mutation_p.L127F|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.L127F|CORO6_ENST00000456796.3_5'Flank|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	127					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGCCCTCAAGTGTGATGATA	0.567																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(379-381)Ctt>Ttt		coronin 6							49.0	54.0	52.0					17																	27946150		2080	4242	6322	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27946150G>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.379C>T	17.37:g.27946150G>A	ENSP00000393624:p.Leu127Phe					CORO6_ENST00000388767.3_Missense_Mutation_p.L127F|CORO6_ENST00000445145.2_Missense_Mutation_p.L127F|CORO6_ENST00000584969.1_Missense_Mutation_p.L127F|CORO6_ENST00000580212.1_Missense_Mutation_p.L127F|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron	p.L127F			Q6QEF8	CORO6_HUMAN			4	592	-			127					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.379C>T		.	.	.	.	.	.	.	.	.	.	G	16.67	3.189045	0.57909	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.63744	-0.06;-0.06	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000002	T	0.78142	0.4237	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78553	-0.2160	10	0.87932	D	0	-1.3504	19.7382	0.96215	0.0:0.0:1.0:0.0	.	127	Q6QEF8-5	.	F	198;127;127	ENSP00000373419:L127F;ENSP00000393624:L127F	ENSP00000344562:L198F	L	-	1	0	CORO6	24970276	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	5.668000	0.68074	2.768000	0.95171	0.561000	0.74099	CTT		0.567	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		6	13	0	0	0	1	0	6	13				
LAMA4	3910	broad.mit.edu	37	6	112535229	112535229	+	Intron	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112535229A>C	ENST00000230538.7	-	3	695				LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000431543.2_Missense_Mutation_p.S114A|LAMA4_ENST00000524032.1_Intron|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000424408.2_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAATGAACGATAGGGCAGAA	0.483																																						ENST00000431543.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(340-342)Tcg>Gcg		laminin, alpha 4							154.0	139.0	144.0					6																	112535229		876	1991	2867	SO:0001627	intron_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112535229A>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.297+2339T>G	6.37:g.112535229A>C						LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000524032.1_Intron|LAMA4_ENST00000230538.7_Intron|LAMA4_ENST00000522006.1_Intron	p.S114A			Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	4	594	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	0			Laminin EGF-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.340T>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	3.668	-0.068077	0.07228	.	.	ENSG00000112769	ENST00000431543	T	0.46063	0.88	4.33	3.11	0.35812	.	.	.	.	.	T	0.13500	0.0327	.	.	.	0.09310	N	0.999999	B	0.18310	0.027	B	0.18871	0.023	T	0.12863	-1.0531	8	0.45353	T	0.12	.	6.6501	0.22957	0.8866:0.0:0.1134:0.0	.	114	Q6LET9	.	A	114	ENSP00000412136:S114A	ENSP00000412136:S114A	S	-	1	0	LAMA4	112641922	0.002000	0.14202	0.005000	0.12908	0.006000	0.05464	1.516000	0.35856	1.805000	0.52779	0.459000	0.35465	TCG		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		25	39	0	0	0	1	0	25	39				
MVD	4597	broad.mit.edu	37	16	88721165	88721165	+	Silent	SNP	G	G	A	rs542308252	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88721165G>A	ENST00000301012.3	-	8	977	c.948C>T	c.(946-948)gaC>gaT	p.D316D	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	316					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACAGTGTCGTCCAGGGTGA	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		19279	0.0		0.0	False		,,,				2504	0.0041					ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(946-948)gaC>gaT		mevalonate (diphospho) decarboxylase							94.0	82.0	86.0					16																	88721165		2198	4300	6498	SO:0001819	synonymous_variant	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88721165G>A	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.948C>T	16.37:g.88721165G>A							p.D316D	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	8	977	-			316					Q53Y65	Silent	SNP	ENST00000301012.3	37	c.948C>T	CCDS10968.1																																																																																				0.612	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		5	34	0	0	0	1	0	5	34				
ADAMTSL3	57188	broad.mit.edu	37	15	84442351	84442351	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84442351G>A	ENST00000286744.5	+	4	490	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R89Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	89	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACTGCTCCCGGACCTGTGGG	0.507																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(265-267)cGg>cAg		ADAMTS-like 3							133.0	124.0	127.0					15																	84442351		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84442351G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.266G>A	15.37:g.84442351G>A	ENSP00000286744:p.Arg89Gln					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R89Q	p.R89Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		4	490	+			89			TSP type-1 1.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.266G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946116	0.92593	.	.	ENSG00000156218	ENST00000286744	T	0.52526	0.66	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.69823	2.125	0.50632	D	0.999887	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.72137	-0.4381	10	0.87932	D	0	.	17.2168	0.86946	0.0:0.0:1.0:0.0	.	89;89	P82987-2;P82987	.;ATL3_HUMAN	Q	89	ENSP00000286744:R89Q	ENSP00000286744:R89Q	R	+	2	0	ADAMTSL3	82233355	1.000000	0.71417	0.986000	0.45419	0.751000	0.42716	7.511000	0.81718	2.587000	0.87381	0.585000	0.79938	CGG		0.507	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		26	29	0	0	0	1	0	26	29				
ECT2L	345930	broad.mit.edu	37	6	139164320	139164320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164320G>T	ENST00000423192.1	+	5	708	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.E114*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.E183*			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	183							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACAAAGAGAAAAGTGCCT	0.408			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(547-549)Gaa>Taa		epithelial cell transforming sequence 2 oncogene-like							119.0	119.0	119.0					6																	139164320		1865	4102	5967	SO:0001587	stop_gained	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139164320G>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.547G>T	6.37:g.139164320G>T	ENSP00000387388:p.Glu183*					ECT2L_ENST00000541398.1_Nonsense_Mutation_p.E114*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.E183*	p.E183*			Q008S8	ECT2L_HUMAN			5	708	+			183					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Nonsense_Mutation	SNP	ENST00000423192.1	37	c.547G>T	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296541	0.95574	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	.	.	.	5.72	5.72	0.89469	.	0.348841	0.16078	U	0.230664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.8527	16.7928	0.85593	0.0:0.0:1.0:0.0	.	.	.	.	X	183;183;114	.	ENSP00000356655:E183X	E	+	1	0	ECT2L	139206013	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	7.534000	0.82004	2.709000	0.92574	0.591000	0.81541	GAA		0.408	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		30	38	1	0	6.04164e-23	1	7.98701e-23	30	38				
EMC8	10328	broad.mit.edu	37	16	85814835	85814835	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85814835G>A	ENST00000253457.3	-	3	604	c.360C>T	c.(358-360)agC>agT	p.S120S	EMC8_ENST00000435200.2_Silent_p.S120S|RNU1-103P_ENST00000516502.1_RNA	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	120						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GCGCAGTGTCGCTGAAGCCCT	0.547																																						ENST00000253457.3																			0											c.(358-360)agC>agT		ER membrane protein complex subunit 8							127.0	95.0	106.0					16																	85814835		2198	4300	6498	SO:0001819	synonymous_variant	10328							g.chr16:85814835G>A	AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.360C>T	16.37:g.85814835G>A						EMC8_ENST00000435200.2_Silent_p.S120S	p.S120S	NM_006067.4	NP_006058.1					3	604	-								C9JB21	Silent	SNP	ENST00000253457.3	37	c.360C>T	CCDS10954.1																																																																																				0.547	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067		8	21	0	0	0	1	0	8	21				
TRIM13	10206	broad.mit.edu	37	13	50586242	50586242	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586242A>G	ENST00000378182.3	+	2	904	c.166A>G	c.(166-168)Aca>Gca	p.T56A	TRIM13_ENST00000356017.4_Missense_Mutation_p.T59A|TRIM13_ENST00000420995.2_Missense_Mutation_p.T56A|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.T56A|TRIM13_ENST00000298772.5_Missense_Mutation_p.T59A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	56					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGTGTCCTACATGCCGTAA	0.433																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(166-168)Aca>Gca		tripartite motif containing 13							92.0	88.0	89.0					13																	50586242		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586242A>G	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.166A>G	13.37:g.50586242A>G	ENSP00000367424:p.Thr56Ala					TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.T56A|TRIM13_ENST00000420995.2_Missense_Mutation_p.T56A|TRIM13_ENST00000356017.4_Missense_Mutation_p.T59A|TRIM13_ENST00000298772.5_Missense_Mutation_p.T59A	p.T56A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	904	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	56					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.166A>G	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688209	0.68271	.	.	ENSG00000204977	ENST00000442421;ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	D;T;T;T;T;T;T	0.92699	-3.09;0.92;0.92;0.92;0.92;0.92;0.92	5.61	5.61	0.85477	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	D	0.92740	0.7692	L	0.35414	1.06	0.53688	D	0.99997	D;D	0.64830	0.994;0.993	P;P	0.61592	0.891;0.826	D	0.92918	0.6353	10	0.46703	T	0.11	-5.0035	15.7972	0.78420	1.0:0.0:0.0:0.0	.	56;59	O60858;O60858-3	TRI13_HUMAN;.	A	56;56;56;56;59;56;59	ENSP00000404586:T56A;ENSP00000367425:T56A;ENSP00000412943:T56A;ENSP00000367424:T56A;ENSP00000348299:T59A;ENSP00000399206:T56A;ENSP00000298772:T59A	ENSP00000298772:T59A	T	+	1	0	TRIM13	49484243	1.000000	0.71417	0.664000	0.29753	0.911000	0.54048	9.299000	0.96137	2.124000	0.65301	0.533000	0.62120	ACA		0.433	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		7	47	0	0	0	1	0	7	47				
CCDC39	339829	broad.mit.edu	37	3	180334613	180334613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180334613C>T	ENST00000442201.2	-	17	2526		c.e17+1		CCDC39_ENST00000273654.4_Splice_Site|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATATCGATACCTGTTTGGTC	0.308																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.e22+1		coiled-coil domain containing 39							165.0	148.0	153.0					3																	180334613		1819	4064	5883	SO:0001630	splice_region_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334613C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2406+1G>A	3.37:g.180334613C>T						CCDC39_ENST00000442201.2_Splice_Site|TTC14_ENST00000382584.4_Intron				Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		22	3118	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)							B4E2H1	Splice_Site	SNP	ENST00000442201.2	37		CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798696	0.31777	.	.	ENSG00000145075	ENST00000442201	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3999	0.90513	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC39	181817307	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	4.971000	0.63749	2.569000	0.86673	0.460000	0.39030	.		0.308	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	Intron	6	12	0	0	0	1	0	6	12				
DFNB31	25861	broad.mit.edu	37	9	117188682	117188682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117188682C>A	ENST00000362057.3	-	4	1143	c.975G>T	c.(973-975)caG>caT	p.Q325H	DFNB31_ENST00000374059.3_5'Flank|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	325	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTAGAATCTGGTCCCCAA	0.527																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(973-975)caG>caT		deafness, autosomal recessive 31							94.0	85.0	88.0					9																	117188682		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117188682C>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.975G>T	9.37:g.117188682C>A	ENSP00000354623:p.Gln325His					DFNB31_ENST00000265134.6_5'UTR	p.Q325H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			4	1143	-			325			PDZ 2.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.975G>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765164	0.69878	.	.	ENSG00000095397	ENST00000362057	T	0.30448	1.53	5.09	4.19	0.49359	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.48681	-0.9014	10	0.87932	D	0	-23.1028	12.9335	0.58301	0.0:0.9216:0.0:0.0784	.	325;325	B9EGE6;Q9P202	.;WHRN_HUMAN	H	325	ENSP00000354623:Q325H	ENSP00000354623:Q325H	Q	-	3	2	DFNB31	116228503	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.718000	0.54919	2.390000	0.81377	0.561000	0.74099	CAG		0.527	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		4	23	1	0	0.014758	1	0.0152625	4	23				
NOS3	4846	broad.mit.edu	37	7	150706122	150706122	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150706122C>A	ENST00000297494.3	+	18	2574	c.2217C>A	c.(2215-2217)gcC>gcA	p.A739A	NOS3_ENST00000461406.1_Silent_p.A533A	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGAGCGCCCAGGCCGAGG	0.672											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2215-2217)gcC>gcA		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						18.0	22.0	20.0					7																	150706122		2203	4296	6499	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150706122C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2217C>A	7.37:g.150706122C>A			OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	NOS3_ENST00000461406.1_Silent_p.A533A	p.A739A	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	18	2574	+	all_neural(206;0.219)		739					Q495E5	Silent	SNP	ENST00000297494.3	37	c.2217C>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178176	0.38511	.	.	ENSG00000164867	ENST00000475017	.	.	.	5.03	3.17	0.36434	.	.	.	.	.	T	0.59169	0.2174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53823	-0.8384	4	.	.	.	-21.672	9.6841	0.40087	0.1599:0.6861:0.1541:0.0	.	.	.	.	H	33	.	.	P	+	2	0	NOS3	150337055	0.607000	0.26958	0.961000	0.40146	0.954000	0.61252	0.963000	0.29293	0.667000	0.31107	0.555000	0.69702	CCC		0.672	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		18	17	1	0	4.35082e-09	1	5.25983e-09	18	17				
SEMA6A	57556	broad.mit.edu	37	5	115783357	115783357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115783357G>A	ENST00000343348.6	-	19	2832	c.2045C>T	c.(2044-2046)gCt>gTt	p.A682V	SEMA6A_ENST00000503865.1_Missense_Mutation_p.A61V|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A682V|SEMA6A_ENST00000282394.6_Missense_Mutation_p.A159V|SEMA6A_ENST00000513137.1_Missense_Mutation_p.A109V|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A699V|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	682					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCACCACAGCCACGTCTTT	0.607																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2044-2046)gCt>gTt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							50.0	56.0	54.0					5																	115783357		2122	4250	6372	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783357G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2045C>T	5.37:g.115783357G>A	ENSP00000345512:p.Ala682Val					SEMA6A_ENST00000503865.1_Missense_Mutation_p.A61V|SEMA6A_ENST00000282394.6_Missense_Mutation_p.A159V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A699V|SEMA6A_ENST00000513137.1_Missense_Mutation_p.A109V|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A682V|CTB-118N6.3_ENST00000512128.1_RNA	p.A682V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2832	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	682					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2045C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268859	0.59540	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	T;T;T;T;T;T	0.47528	2.16;2.15;0.84;2.66;0.85;2.16	4.58	4.58	0.56647	.	0.325999	0.31612	N	0.007343	T	0.36717	0.0977	L	0.34521	1.04	0.35090	D	0.76421	B;B;B;B;B;B	0.25235	0.032;0.121;0.079;0.029;0.015;0.078	B;B;B;B;B;B	0.24394	0.037;0.051;0.046;0.037;0.011;0.053	T	0.48581	-0.9023	10	0.41790	T	0.15	.	12.1462	0.54024	0.0:0.0:0.8287:0.1713	.	61;682;226;699;159;109	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.;SEM6A_HUMAN;.;.;.;.	V	682;699;109;159;61;682	ENSP00000345512:A682V;ENSP00000257414:A699V;ENSP00000422997:A109V;ENSP00000282394:A159V;ENSP00000425364:A61V;ENSP00000424388:A682V	ENSP00000257414:A699V	A	-	2	0	SEMA6A	115811256	0.890000	0.30428	0.802000	0.32245	0.990000	0.78478	3.789000	0.55454	2.097000	0.63578	0.555000	0.69702	GCT		0.607	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		23	32	0	0	0	1	0	23	32				
LRFN4	78999	broad.mit.edu	37	11	66625626	66625626	+	Silent	SNP	G	G	T	rs138102608		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625626G>T	ENST00000309602.4	+	1	654	c.411G>T	c.(409-411)ccG>ccT	p.P137P	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Silent_p.P137P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	137						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCATCGCGCCGGGAGCCTTCG	0.692																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(409-411)ccG>ccT		leucine rich repeat and fibronectin type III domain containing 4							49.0	55.0	53.0					11																	66625626		2200	4294	6494	SO:0001819	synonymous_variant	78999					integral to membrane		g.chr11:66625626G>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.411G>T	11.37:g.66625626G>T						PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Silent_p.P137P	p.P137P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	654	+			137					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	ENST00000309602.4	37	c.411G>T	CCDS8153.1																																																																																				0.692	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		27	38	1	0	4.47668e-21	1	5.88546e-21	27	38				
MORC3	23515	broad.mit.edu	37	21	37736539	37736539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37736539C>A	ENST00000400485.1	+	14	1677	c.1601C>A	c.(1600-1602)tCt>tAt	p.S534Y	MORC3_ENST00000487909.1_3'UTR|AP000692.9_ENST00000397184.2_RNA	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	534					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCACCTCAGTCTGAACCTGAG	0.388																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1600-1602)tCt>tAt		MORC family CW-type zinc finger 3							66.0	58.0	61.0					21																	37736539		1859	4105	5964	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37736539C>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1601C>A	21.37:g.37736539C>A	ENSP00000383333:p.Ser534Tyr					MORC3_ENST00000487909.1_3'UTR	p.S534Y	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			14	1677	+			534					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1601C>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180873	0.21787	.	.	ENSG00000159256	ENST00000400485	T	0.15372	2.43	5.38	5.38	0.77491	.	0.775194	0.12389	N	0.473215	T	0.18841	0.0452	L	0.47716	1.5	0.39843	D	0.973133	B	0.24651	0.108	B	0.26202	0.067	T	0.08597	-1.0714	10	0.15499	T	0.54	-2.8139	16.2195	0.82251	0.0:1.0:0.0:0.0	.	534	Q14149	MORC3_HUMAN	Y	534	ENSP00000383333:S534Y	ENSP00000383333:S534Y	S	+	2	0	MORC3	36658409	0.999000	0.42202	0.816000	0.32577	0.139000	0.21198	1.819000	0.39022	2.683000	0.91414	0.561000	0.74099	TCT		0.388	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		7	44	1	0	1.06961e-07	1	1.26574e-07	7	44				
MDC1	9656	broad.mit.edu	37	6	30679881	30679881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30679881G>A	ENST00000376406.3	-	5	2485	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.A613V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	613					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTAAGAACAGCTGCAGCCCA	0.582								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1837-1839)gCt>gTt	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							51.0	50.0	50.0					6																	30679881		1511	2709	4220	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30679881G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1838C>T	6.37:g.30679881G>A	ENSP00000365588:p.Ala613Val					MDC1_ENST00000376405.2_Missense_Mutation_p.A613V|MDC1-AS1_ENST00000442150.1_RNA	p.A613V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	2485	-			613					A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1838C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438808	0.25900	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03496	4.01;3.91	4.87	3.98	0.46160	.	1.008340	0.07990	N	0.986968	T	0.05914	0.0154	L	0.56769	1.78	0.09310	N	1	P;D;P;B	0.67145	0.498;0.996;0.9;0.221	B;P;P;B	0.62813	0.347;0.907;0.508;0.244	T	0.38607	-0.9653	10	0.45353	T	0.12	-0.6995	10.3552	0.43960	0.0:0.0:0.8037:0.1963	.	613;485;613;613	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	V	613;613;613;485	ENSP00000365588:A613V;ENSP00000365587:A613V	ENSP00000365587:A613V	A	-	2	0	MDC1	30787860	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.202000	0.32271	1.011000	0.39340	0.462000	0.41574	GCT		0.582	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	29	0	0	0	1	0	6	29				
TRIM29	23650	broad.mit.edu	37	11	119998223	119998223	+	Missense_Mutation	SNP	G	G	A	rs554063264		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998223G>A	ENST00000341846.5	-	3	1376	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Missense_Mutation_p.R52W|TRIM29_ENST00000529044.1_Missense_Mutation_p.R58W	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	319					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCCAGGTCCCGCACCAGGTCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21048	0.0		0.0	False		,,,				2504	0.001					ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(955-957)Cgg>Tgg		tripartite motif containing 29							93.0	81.0	85.0					11																	119998223		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998223G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.955C>T	11.37:g.119998223G>A	ENSP00000343129:p.Arg319Trp					TRIM29_ENST00000529044.1_Missense_Mutation_p.R58W|TRIM29_ENST00000541857.1_Missense_Mutation_p.R52W	p.R319W	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1376	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	319					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.955C>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122356	0.77436	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.42900	0.96	5.14	-2.16	0.07080	.	0.219940	0.30602	N	0.009271	T	0.34629	0.0904	N	0.19112	0.55	0.39719	D	0.971444	P;P;D	0.69078	0.894;0.95;0.997	B;B;P	0.50231	0.406;0.406;0.635	T	0.06881	-1.0802	9	.	.	.	.	18.1291	0.89596	0.0:0.0:0.2334:0.7666	.	52;58;319	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	W	319;52;58	ENSP00000343129:R319W	.	R	-	1	2	TRIM29	119503433	1.000000	0.71417	0.546000	0.28166	0.984000	0.73092	2.471000	0.45127	-0.792000	0.04480	-0.181000	0.13052	CGG		0.567	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		6	82	0	0	0	1	0	6	82				
OR2B11	127623	broad.mit.edu	37	1	247614479	247614479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247614479C>T	ENST00000318749.6	-	1	829	c.806G>A	c.(805-807)aGc>aAc	p.S269N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGGGAGTAGCTGGAAGGGGG	0.483																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(805-807)aGc>aAc		olfactory receptor, family 2, subfamily B, member 11							149.0	155.0	153.0					1																	247614479		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614479C>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.806G>A	1.37:g.247614479C>T	ENSP00000325682:p.Ser269Asn						p.S269N	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	829	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	269					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.806G>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513864	0.27123	.	.	ENSG00000177535	ENST00000318749	T	0.00145	8.67	5.08	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.523729	0.18969	N	0.126168	T	0.00073	0.0002	N	0.13003	0.285	0.24283	N	0.995193	B	0.10296	0.003	B	0.16289	0.015	T	0.09552	-1.0669	10	0.33940	T	0.23	.	5.6866	0.17807	0.0:0.6109:0.1434:0.2458	.	269	Q5JQS5	OR2BB_HUMAN	N	269	ENSP00000325682:S269N	ENSP00000325682:S269N	S	-	2	0	OR2B11	245681102	0.000000	0.05858	0.340000	0.25575	0.901000	0.52897	0.149000	0.16243	0.114000	0.18032	-0.154000	0.13518	AGC		0.483	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		8	152	0	0	0	1	0	8	152				
AGXT2	64902	broad.mit.edu	37	5	35040694	35040694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35040694G>A	ENST00000231420.6	-	2	363	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	55					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TATCTTTCAGGCATGAAGTCA	0.423																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(163-165)Cct>Tct		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						188.0	181.0	183.0					5																	35040694		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35040694G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.163C>T	5.37:g.35040694G>A	ENSP00000231420:p.Pro55Ser						p.P55S	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	2	363	-	all_lung(31;4.52e-05)		55					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.163C>T	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365052	0.61513	.	.	ENSG00000113492	ENST00000231420	D	0.82803	-1.65	5.31	5.31	0.75309	.	0.106321	0.64402	D	0.000003	D	0.91304	0.7258	M	0.78456	2.415	0.80722	D	1	P;D	0.89917	0.897;1.0	P;D	0.76071	0.685;0.987	D	0.91095	0.4910	10	0.51188	T	0.08	-14.2576	19.3411	0.94342	0.0:0.0:1.0:0.0	.	55;55	E9PDL7;Q9BYV1	.;AGT2_HUMAN	S	55	ENSP00000231420:P55S	ENSP00000231420:P55S	P	-	1	0	AGXT2	35076451	1.000000	0.71417	0.968000	0.41197	0.361000	0.29550	6.968000	0.76086	2.663000	0.90544	0.555000	0.69702	CCT		0.423	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		37	70	0	0	0	1	0	37	70				
SLC4A4	8671	broad.mit.edu	37	4	72338462	72338462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338462T>C	ENST00000264485.5	+	14	1795	c.1678T>C	c.(1678-1680)Tgg>Cgg	p.W560R	SLC4A4_ENST00000340595.3_Missense_Mutation_p.W516R|SLC4A4_ENST00000512686.1_Missense_Mutation_p.W516R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.W560R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.W560R	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	560					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GATTGGCCTGTGGTCCGCCTT	0.428																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1546-1548)Tgg>Cgg		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							180.0	179.0	179.0					4																	72338462		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338462T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1678T>C	4.37:g.72338462T>C	ENSP00000264485:p.Trp560Arg					SLC4A4_ENST00000425175.1_Missense_Mutation_p.W560R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.W560R|SLC4A4_ENST00000512686.1_Missense_Mutation_p.W516R|SLC4A4_ENST00000264485.5_Missense_Mutation_p.W560R|SLC4A4_ENST00000514331.1_3'UTR	p.W516R	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1742	+			560					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1546T>C	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428904	0.83667	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.44	5.44	0.79542	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	H	0.96175	3.78	0.80722	D	1	D;D;D;D;D;D	0.76494	0.969;0.995;0.961;0.999;0.992;0.985	D;P;P;D;D;D	0.78314	0.925;0.897;0.876;0.991;0.98;0.97	D	0.95722	0.8767	10	0.87932	D	0	.	15.509	0.75766	0.0:0.0:0.0:1.0	.	560;560;516;516;540;560	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	R	560;560;560;516;516	ENSP00000264485:W560R;ENSP00000393557:W560R;ENSP00000307349:W560R;ENSP00000422400:W516R;ENSP00000344272:W516R	ENSP00000264485:W560R	W	+	1	0	SLC4A4	72557326	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.065000	0.61736	0.533000	0.62120	TGG		0.428	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		90	123	0	0	0	1	0	90	123				
HEATR6	63897	broad.mit.edu	37	17	58134674	58134674	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58134674T>C	ENST00000184956.6	-	12	1830	c.1814A>G	c.(1813-1815)cAg>cGg	p.Q605R	HEATR6_ENST00000585976.1_Missense_Mutation_p.Q605R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	605							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGAACATGGCTGTTGCAGAAG	0.502																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1813-1815)cAg>cGg		HEAT repeat containing 6							89.0	81.0	84.0					17																	58134674		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58134674T>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1814A>G	17.37:g.58134674T>C	ENSP00000184956:p.Gln605Arg					HEATR6_ENST00000585976.1_Missense_Mutation_p.Q605R	p.Q605R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		12	1830	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		605					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1814A>G	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641177	0.87859	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65364	-0.15	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	M	0.67953	2.075	0.58432	D	0.999998	D;D	0.71674	0.997;0.998	D;P	0.75484	0.986;0.895	T	0.74856	-0.3522	10	0.33940	T	0.23	-11.3414	14.7938	0.69863	0.0:0.0:0.0:1.0	.	452;605	E7ESB9;Q6AI08	.;HEAT6_HUMAN	R	605;452	ENSP00000184956:Q605R	ENSP00000184956:Q605R	Q	-	2	0	HEATR6	55489456	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.179000	0.77665	2.154000	0.67381	0.456000	0.33151	CAG		0.502	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		4	54	0	0	0	1	0	4	54				
MAP3K3	4215	broad.mit.edu	37	17	61770979	61770979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61770979G>A	ENST00000361733.3	+	16	2043	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T	MAP3K3_ENST00000584573.1_Missense_Mutation_p.A602T|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A571T|MAP3K3_ENST00000579585.1_Missense_Mutation_p.A606T|MAP3K3_ENST00000361357.3_Missense_Mutation_p.A606T	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.A575T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTATGGCCGCCATCTTCAA	0.587																																						ENST00000361357.3																			1	Substitution - Missense(1)	p.A575T(1)	kidney(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1816-1818)Gcc>Acc		mitogen-activated protein kinase kinase kinase 3							135.0	112.0	120.0					17																	61770979		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61770979G>A	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1723G>A	17.37:g.61770979G>A	ENSP00000354485:p.Ala575Thr					MAP3K3_ENST00000584573.1_Missense_Mutation_p.A602T|MAP3K3_ENST00000579585.1_Missense_Mutation_p.A606T|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A571T|MAP3K3_ENST00000361733.3_Missense_Mutation_p.A575T	p.A606T	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			17	2134	+			575			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.1816G>A	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849942	0.91277	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.64803	-0.12;-0.12	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	L	0.33668	1.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.75906	-0.3152	10	0.87932	D	0	.	18.1955	0.89820	0.0:0.0:1.0:0.0	.	571;543;575;606	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	T	606;575	ENSP00000354927:A606T;ENSP00000354485:A575T	ENSP00000354927:A606T	A	+	1	0	MAP3K3	59124711	1.000000	0.71417	0.972000	0.41901	0.970000	0.65996	9.835000	0.99442	2.300000	0.77407	0.561000	0.74099	GCC		0.587	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		27	49	0	0	0	1	0	27	49				
DPP8	54878	broad.mit.edu	37	15	65759506	65759506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65759506G>T	ENST00000341861.5	-	13	3220	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H	DPP8_ENST00000339244.5_Missense_Mutation_p.P374H|DPP8_ENST00000321147.6_Missense_Mutation_p.P547H|DPP8_ENST00000321118.7_Missense_Mutation_p.P547H|DPP8_ENST00000300141.6_Missense_Mutation_p.P531H|DPP8_ENST00000358939.4_Missense_Mutation_p.P531H|DPP8_ENST00000559233.1_Missense_Mutation_p.P547H	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	547					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGCTCTAAAGGGGAGTCTTT	0.443																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1639-1641)cCt>cAt		dipeptidyl-peptidase 8							120.0	113.0	116.0					15																	65759506		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65759506G>T	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1640C>A	15.37:g.65759506G>T	ENSP00000339208:p.Pro547His					DPP8_ENST00000559233.1_Missense_Mutation_p.P547H|DPP8_ENST00000321118.7_Missense_Mutation_p.P547H|DPP8_ENST00000339244.5_Missense_Mutation_p.P374H|DPP8_ENST00000300141.6_Missense_Mutation_p.P531H|DPP8_ENST00000358939.4_Missense_Mutation_p.P531H|DPP8_ENST00000321147.6_Missense_Mutation_p.P547H	p.P547H	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			13	3220	-			547					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1640C>A	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913228	0.72983	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.56	5.56	0.83823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.75539	0.3863	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.994;0.999;0.991;0.996	T	0.80169	-0.1494	10	0.87932	D	0	-6.3244	19.5213	0.95185	0.0:0.0:1.0:0.0	.	374;531;531;547;547	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	H	547;531;531;547;547;374;547	ENSP00000339208:P547H;ENSP00000351817:P531H;ENSP00000300141:P531H;ENSP00000318111:P547H;ENSP00000316373:P547H;ENSP00000341230:P374H;ENSP00000379013:P547H	ENSP00000300141:P531H	P	-	2	0	DPP8	63546559	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.613000	0.98350	2.602000	0.87976	0.467000	0.42956	CCT		0.443	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		7	46	1	0	8.12818e-05	1	8.99451e-05	7	46				
TMPRSS15	5651	broad.mit.edu	37	21	19685272	19685272	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19685272G>T	ENST00000284885.3	-	18	2188	c.2155C>A	c.(2155-2157)Ctg>Atg	p.L719M		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	719	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTAGTCCCAGCAGTTGACAA	0.358																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2155-2157)Ctg>Atg		transmembrane protease, serine 15							108.0	105.0	106.0					21																	19685272		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19685272G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2155C>A	21.37:g.19685272G>T	ENSP00000284885:p.Leu719Met						p.L719M	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			18	2188	-			719			SRCR.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2155C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663928	0.47572	.	.	ENSG00000154646	ENST00000284885	T	0.62639	0.01	5.53	1.03	0.20045	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.092091	0.43579	N	0.000547	T	0.69967	0.3170	M	0.71581	2.175	0.31597	N	0.653149	D	0.89917	1.0	D	0.97110	1.0	T	0.67681	-0.5608	9	.	.	.	.	2.5976	0.04858	0.2865:0.0:0.2886:0.4249	.	719	P98073	ENTK_HUMAN	M	719	ENSP00000284885:L719M	.	L	-	1	2	TMPRSS15	18607143	0.268000	0.24133	0.903000	0.35520	0.945000	0.59286	0.447000	0.21710	0.274000	0.22072	-0.274000	0.10170	CTG		0.358	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		35	37	1	0	1.04352e-10	1	1.28949e-10	35	37				
EXTL1	2134	broad.mit.edu	37	1	26349472	26349472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26349472G>A	ENST00000374280.3	+	1	1202	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	112					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTCATCGCAGGATCCTG	0.572																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(334-336)cGc>cAc		exostosin-like glycosyltransferase 1							77.0	80.0	79.0					1																	26349472		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349472G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.335G>A	1.37:g.26349472G>A	ENSP00000363398:p.Arg112His						p.R112H	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1202	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	112					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.335G>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	4.041	0.005226	0.07866	.	.	ENSG00000158008	ENST00000374280	D	0.97575	-4.44	5.32	-1.13	0.09775	.	0.408805	0.25484	N	0.030342	D	0.91791	0.7403	L	0.33245	0.995	0.09310	N	1	B	0.22080	0.064	B	0.18561	0.022	T	0.82341	-0.0505	10	0.25751	T	0.34	-4.7817	8.1592	0.31187	0.4487:0.0:0.4505:0.1008	.	112	Q92935	EXTL1_HUMAN	H	112	ENSP00000363398:R112H	ENSP00000363398:R112H	R	+	2	0	EXTL1	26222059	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.205000	0.17356	-0.302000	0.08869	-0.797000	0.03246	CGC		0.572	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		25	36	0	0	0	1	0	25	36				
PRRC2C	23215	broad.mit.edu	37	1	171553178	171553178	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171553178T>A	ENST00000338920.4	+	29	7724	c.7487T>A	c.(7486-7488)gTc>gAc	p.V2496D	PRRC2C_ENST00000367742.3_Missense_Mutation_p.V2498D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V2431D|PRRC2C_ENST00000392078.3_Missense_Mutation_p.V2498D	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2496	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TTTCCAACTGTCCAACACCAA	0.438																																						ENST00000367742.3																			0											c.(7492-7494)gTc>gAc		proline-rich coiled-coil 2C							153.0	143.0	147.0					1																	171553178		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171553178T>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7487T>A	1.37:g.171553178T>A	ENSP00000343629:p.Val2496Asp					PRRC2C_ENST00000392078.3_Missense_Mutation_p.V2498D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V2431D|PRRC2C_ENST00000338920.4_Missense_Mutation_p.V2496D	p.V2498D			Q9Y520	PRC2C_HUMAN			29	7735	+			2496			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7493T>A	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.98|18.98	3.737395|3.737395	0.69304|0.69304	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02837	.|4.14;4.17;4.16;4.16	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.42294	.|D	.|0.000738	T|T	0.07503|0.07503	0.0189|0.0189	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.991;0.999	T|T	0.09122|0.09122	-1.0689|-1.0689	5|10	.|0.87932	.|D	.|0	.|.	16.4781|16.4781	0.84144|0.84144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2431;2496	.|B7WNZ6;Q9Y520-4	.|.;.	T|D	979|2498;2450;2431;2498;2496;2253	.|ENSP00000375928:V2498D;ENSP00000410219:V2431D;ENSP00000356716:V2498D;ENSP00000343629:V2496D	.|ENSP00000343629:V2496D	S|V	+|+	1|2	0|0	PRRC2C|PRRC2C	169819802|169819802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.698000|7.698000	0.84413|0.84413	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	TCC|GTC		0.438	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		20	115	0	0	0	1	0	20	115				
MYH6	4624	broad.mit.edu	37	14	23871975	23871975	+	Silent	SNP	G	G	A	rs371728824		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23871975G>A	ENST00000356287.3	-	10	962	c.933C>T	c.(931-933)taC>taT	p.Y311Y	MYH6_ENST00000405093.3_Silent_p.Y311Y			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	311	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACACGAAGGCGTAGTCGTAGG	0.642																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(931-933)taC>taT		myosin, heavy chain 6, cardiac muscle, alpha		A		1,4405		0,1,2202	63.0	48.0	53.0		933	-3.9	0.9	14		53	0,8600		0,0,4300	no	coding-synonymous	MYH6	NM_002471.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		311/1940	23871975	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23871975G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.933C>T	14.37:g.23871975G>A						MYH6_ENST00000356287.3_Silent_p.Y311Y	p.Y311Y	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	11	1003	-	all_cancers(95;2.54e-05)		311			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.933C>T	CCDS9600.1																																																																																				0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			8	18	0	0	0	1	0	8	18				
HNRNPH2	3188	broad.mit.edu	37	X	100667953	100667953	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667953G>T	ENST00000316594.5	+	2	1055	c.977G>T	c.(976-978)aGa>aTa	p.R326I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	326	2 X 16 AA Gly-rich approximate repeats.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CCCGATGGCAGAGTTACCGGT	0.423																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(976-978)aGa>aTa		heterogeneous nuclear ribonucleoprotein H2 (H')							117.0	103.0	108.0					X																	100667953		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667953G>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.977G>T	X.37:g.100667953G>T	ENSP00000361927:p.Arg326Ile						p.R326I	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	1055	+			326			2 X 16 AA Gly-rich approximate repeats.|RRM 3.		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.977G>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733286	0.69189	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.11385	2.78	4.62	4.62	0.57501	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	H	0.96460	3.825	0.80722	D	1	D	0.56035	0.974	D	0.63283	0.913	T	0.61058	-0.7139	10	0.87932	D	0	-0.8602	14.0571	0.64776	0.0:0.0:1.0:0.0	.	326	P55795	HNRH2_HUMAN	I	281;326	ENSP00000361927:R326I	ENSP00000361927:R326I	R	+	2	0	HNRNPH2	100554609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.716000	0.84723	2.281000	0.76405	0.513000	0.50165	AGA		0.423	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		15	163	1	0	2.61681e-11	1	3.25769e-11	15	163				
PYGO2	90780	broad.mit.edu	37	1	154933454	154933454	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154933454T>C	ENST00000368457.2	-	2	323	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Splice_Site_p.Q14R|SHC1_ENST00000490667.1_5'Flank|RP11-307C12.12_ENST00000605085.1_RNA	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	51	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATTCACCTGAGTATTTGA	0.502																																					NSCLC(87;357 1460 1955 21029 23522)	ENST00000368457.2																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10						c.e2+1		pygopus family PHD finger 2							365.0	359.0	361.0					1																	154933454		2203	4300	6503	SO:0001630	splice_region_variant	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154933454T>C	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.153+1A>G	1.37:g.154933454T>C						PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Splice_Site_p.Q14_splice	p.Q51_splice	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	323	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		51			Pro-rich.		Q8WYZ4|Q96CY2	Splice_Site	SNP	ENST00000368457.2	37	c.153_splice	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543710	0.65198	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.55760	0.5;0.54	4.79	3.63	0.41609	.	0.000000	0.64402	D	0.000001	T	0.31575	0.0801	L	0.34521	1.04	0.39804	D	0.972603	D	0.53885	0.963	P	0.47402	0.546	T	0.17410	-1.0370	10	0.59425	D	0.04	-4.2673	9.4019	0.38437	0.0:0.0:0.1797:0.8203	.	51	Q9BRQ0	PYGO2_HUMAN	R	51;14	ENSP00000357442:Q51R;ENSP00000357441:Q14R	ENSP00000357441:Q14R	Q	-	2	0	PYGO2	153200078	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.637000	0.74304	0.824000	0.34613	0.397000	0.26171	CAG		0.502	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300	Missense_Mutation	60	378	0	0	0	1	0	60	378				
TMEM131	23505	broad.mit.edu	37	2	98409946	98409946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98409946G>A	ENST00000186436.5	-	30	3685	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1153						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAGGATAGCCGCCTTCGAAAT	0.453																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(3457-3459)Cgg>Tgg		transmembrane protein 131							63.0	64.0	64.0					2																	98409946		1864	4090	5954	SO:0001583	missense	23505					integral to membrane		g.chr2:98409946G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3457C>T	2.37:g.98409946G>A	ENSP00000186436:p.Arg1153Trp						p.R1153W	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			30	3685	-			1153						Missense_Mutation	SNP	ENST00000186436.5	37	c.3457C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441216	0.83993	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.35421	1.31	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61574	-0.7035	10	0.66056	D	0.02	-10.5463	15.3736	0.74587	0.0664:0.0:0.9336:0.0	.	1153	Q92545	TM131_HUMAN	W	1153;70	ENSP00000186436:R1153W	ENSP00000186436:R1153W	R	-	1	2	TMEM131	97776378	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	9.230000	0.95299	1.587000	0.49959	-0.136000	0.14681	CGG		0.453	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		20	13	0	0	0	1	0	20	13				
PAK6	56924	broad.mit.edu	37	15	40565608	40565608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40565608C>T	ENST00000542403.2	+	6	1663	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	PAK6_ENST00000441369.1_Missense_Mutation_p.H518Y|PAK6_ENST00000455577.2_Missense_Mutation_p.H518Y|PAK6_ENST00000560346.1_Missense_Mutation_p.H518Y|PAK6_ENST00000260404.4_Missense_Mutation_p.H518Y|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.H518Y	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	518	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGCCTACCTGCATGCTCAGGG	0.607																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1552-1554)Cat>Tat		p21 protein (Cdc42/Rac)-activated kinase 6							102.0	81.0	88.0					15																	40565608		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40565608C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1552C>T	15.37:g.40565608C>T	ENSP00000439597:p.His518Tyr					PAK6_ENST00000560346.1_Missense_Mutation_p.H518Y|PAK6_ENST00000542403.2_Missense_Mutation_p.H518Y|PAK6_ENST00000441369.1_Missense_Mutation_p.H518Y|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.H518Y|PAK6_ENST00000260404.4_Missense_Mutation_p.H518Y	p.H518Y	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	8	2464	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	518			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1552C>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846957	0.91277	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.986	D	0.95481	0.8560	10	0.87932	D	0	.	18.5023	0.90887	0.0:1.0:0.0:0.0	.	518;518	Q9NQU5;G5E9R2	PAK6_HUMAN;.	Y	518	ENSP00000406873:H518Y;ENSP00000401153:H518Y;ENSP00000409465:H518Y;ENSP00000260404:H518Y;ENSP00000439597:H518Y	ENSP00000260404:H518Y	H	+	1	0	PAK6	38352900	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.754000	0.85163	2.350000	0.79820	0.563000	0.77884	CAT		0.607	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			5	23	0	0	0	1	0	5	23				
MED23	9439	broad.mit.edu	37	6	131929180	131929180	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131929180T>G	ENST00000368068.3	-	12	1288	c.1109A>C	c.(1108-1110)gAt>gCt	p.D370A	MED23_ENST00000368053.4_Missense_Mutation_p.D376A|MED23_ENST00000540546.1_Missense_Mutation_p.D376A|MED23_ENST00000545957.1_Intron|MED23_ENST00000539158.1_Missense_Mutation_p.D370A|MED23_ENST00000368060.3_Missense_Mutation_p.D370A|MED23_ENST00000368058.1_Missense_Mutation_p.D376A|MED23_ENST00000403834.3_Missense_Mutation_p.D376A|MED23_ENST00000354577.4_Missense_Mutation_p.D376A	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	370					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CATAAGATGATCTCTGCCTTT	0.373																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1126-1128)gAt>gCt		mediator complex subunit 23							93.0	94.0	94.0					6																	131929180		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131929180T>G	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1109A>C	6.37:g.131929180T>G	ENSP00000357047:p.Asp370Ala					MED23_ENST00000368068.3_Missense_Mutation_p.D370A|MED23_ENST00000368060.3_Missense_Mutation_p.D370A|MED23_ENST00000539158.1_Missense_Mutation_p.D370A|MED23_ENST00000354577.4_Missense_Mutation_p.D376A|MED23_ENST00000368058.1_Missense_Mutation_p.D376A|MED23_ENST00000545957.1_Intron|MED23_ENST00000540546.1_Missense_Mutation_p.D376A|MED23_ENST00000368053.4_Missense_Mutation_p.D376A	p.D376A			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	12	1300	-	Breast(56;0.0753)		370					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.1127A>C	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901347	0.92035	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.92844	0.7724	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.999	D	0.93738	0.7047	10	0.87932	D	0	-24.1707	16.4696	0.84102	0.0:0.0:0.0:1.0	.	376;370;376	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	A	376;370;376;370;376;376;376;370	ENSP00000346588:D376A;ENSP00000357047:D370A;ENSP00000384536:D376A;ENSP00000357039:D370A;ENSP00000357037:D376A;ENSP00000357032:D376A;ENSP00000437818:D376A;ENSP00000445072:D370A	ENSP00000346588:D376A	D	-	2	0	MED23	131970873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.289000	0.77006	0.482000	0.46254	GAT		0.373	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			26	53	0	0	0	1	0	26	53				
THAP1	55145	broad.mit.edu	37	8	42694369	42694369	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42694369G>T	ENST00000254250.3	-	2	457	c.227C>A	c.(226-228)gCt>gAt	p.A76D	THAP1_ENST00000345117.2_Intron|THAP1_ENST00000532093.1_5'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	76					cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGGGCACAGCATTCTCTTT	0.353																																						ENST00000254250.3																			0				NS(1)|lung(4)|prostate(1)|skin(1)	7						c.(226-228)gCt>gAt		THAP domain containing, apoptosis associated protein 1							157.0	155.0	156.0					8																	42694369		2203	4300	6503	SO:0001583	missense	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42694369G>T	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.227C>A	8.37:g.42694369G>T	ENSP00000254250:p.Ala76Asp					THAP1_ENST00000345117.2_Intron|THAP1_ENST00000532093.1_5'UTR	p.A76D	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	457	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	76					A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	ENST00000254250.3	37	c.227C>A	CCDS6136.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440436	0.83993	.	.	ENSG00000131931	ENST00000254250;ENST00000529779	D;D	0.97480	-4.4;-4.4	5.92	5.92	0.95590	Zinc finger, C2CH-type (4);	0.105539	0.64402	D	0.000005	D	0.99162	0.9710	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98953	1.0795	10	0.87932	D	0	-26.5322	19.9123	0.97029	0.0:0.0:1.0:0.0	.	76	Q9NVV9	THAP1_HUMAN	D	76	ENSP00000254250:A76D;ENSP00000433912:A76D	ENSP00000254250:A76D	A	-	2	0	THAP1	42813526	1.000000	0.71417	0.996000	0.52242	0.468000	0.32798	9.023000	0.93683	2.801000	0.96364	0.650000	0.86243	GCT		0.353	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		46	80	1	0	6.61955e-31	1	8.87288e-31	46	80				
CPXM2	119587	broad.mit.edu	37	10	125528127	125528127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125528127G>A	ENST00000241305.3	-	9	1368	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	405					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACGATGCGCGCATTCCGGGC	0.647																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1213-1215)gCg>gTg		carboxypeptidase X (M14 family), member 2							105.0	95.0	99.0					10																	125528127		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528127G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1214C>T	10.37:g.125528127G>A	ENSP00000241305:p.Ala405Val					CPXM2_ENST00000368854.3_5'UTR	p.A405V	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1368	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	405					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1214C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414314	0.25465	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.11821	2.74	4.96	0.756	0.18421	Peptidase M14, carboxypeptidase A (1);	1.476590	0.03636	N	0.238689	T	0.14098	0.0341	L	0.39514	1.22	0.19300	N	0.999978	B	0.31989	0.35	B	0.29862	0.108	T	0.37753	-0.9692	10	0.72032	D	0.01	-4.9375	8.9953	0.36048	0.0719:0.0:0.3388:0.5894	.	405	Q8N436	CPXM2_HUMAN	V	405;238;405	ENSP00000241305:A405V	ENSP00000241305:A405V	A	-	2	0	CPXM2	125518117	0.001000	0.12720	0.000000	0.03702	0.160000	0.22226	1.143000	0.31553	-0.036000	0.13669	0.655000	0.94253	GCG		0.647	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		15	99	0	0	0	1	0	15	99				
ABCA1	19	broad.mit.edu	37	9	107581161	107581161	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107581161C>T	ENST00000374736.3	-	23	3639	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1082	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AATAATGGTGCGGCCTGCCAG	0.547																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(3244-3246)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						40.0	37.0	38.0					9																	107581161		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107581161C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3245G>A	9.37:g.107581161C>T	ENSP00000363868:p.Arg1082His						p.R1082H	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	23	3639	-			1082			ABC transporter 1.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3245G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555812	0.96514	.	.	ENSG00000165029	ENST00000374736	D	0.97888	-4.59	5.97	5.97	0.96955	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99429	1.0935	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	1082	O95477	ABCA1_HUMAN	H	1082	ENSP00000363868:R1082H	ENSP00000363868:R1082H	R	-	2	0	ABCA1	106620982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	CGC		0.547	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		10	14	0	0	0	1	0	10	14				
DEPDC1B	55789	broad.mit.edu	37	5	59893604	59893604	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59893604T>A	ENST00000265036.5	-	11	1633	c.1566A>T	c.(1564-1566)caA>caT	p.Q522H	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q433H|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q460H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	522					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTAGTTCTTTGAAATGGTT	0.418																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(1564-1566)caA>caT		DEP domain containing 1B							192.0	184.0	187.0					5																	59893604		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59893604T>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1566A>T	5.37:g.59893604T>A	ENSP00000265036:p.Gln522His					DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q460H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q433H	p.Q522H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			11	1633	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	522					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.1566A>T	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175682	0.38413	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.35421	2.16;1.72;1.31	5.46	2.7	0.31948	.	0.059446	0.64402	D	0.000002	T	0.17831	0.0428	N	0.22421	0.69	0.42515	D	0.992984	B;B	0.15473	0.002;0.013	B;B	0.12156	0.002;0.007	T	0.10132	-1.0643	9	.	.	.	-17.7626	1.3242	0.02122	0.1362:0.2988:0.1599:0.4052	.	460;522	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	H	522;460;433	ENSP00000265036:Q522H;ENSP00000389101:Q460H;ENSP00000438320:Q433H	.	Q	-	3	2	DEPDC1B	59929361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.588000	0.23924	0.365000	0.24400	0.482000	0.46254	CAA		0.418	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		8	143	0	0	0	1	0	8	143				
TPTE	7179	broad.mit.edu	37	21	10916424	10916424	+	Missense_Mutation	SNP	G	G	T	rs267606169		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10916424G>T	ENST00000361285.4	-	20	1551	c.1222C>A	c.(1222-1224)Ctc>Atc	p.L408I	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.L390I|TPTE_ENST00000342420.5_Missense_Mutation_p.L370I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGGAGGGAGATTCCAGTTG	0.363																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1168-1170)Ctc>Atc		transmembrane phosphatase with tensin homology							128.0	119.0	122.0					21																	10916424		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916424G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1222C>A	21.37:g.10916424G>T	ENSP00000355208:p.Leu408Ile					TPTE_ENST00000342420.5_Missense_Mutation_p.L370I|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.L408I	p.L390I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1535	-			408			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1168C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.67	1.708386	0.30322	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.94723	-3.36;-3.5;-3.46	1.79	1.79	0.24919	.	0.069033	0.64402	D	0.000014	D	0.90717	0.7087	L	0.52905	1.665	0.23906	N	0.996505	B;B;B	0.30914	0.167;0.3;0.04	B;B;B	0.33568	0.166;0.166;0.017	T	0.82959	-0.0198	10	0.39692	T	0.17	-20.6839	7.1115	0.25392	0.0:0.0:1.0:0.0	.	370;390;408	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	390;408;370	ENSP00000298232:L390I;ENSP00000355208:L408I;ENSP00000344441:L370I	ENSP00000298232:L390I	L	-	1	0	TPTE	9938295	0.968000	0.33430	0.175000	0.22980	0.378000	0.30076	1.729000	0.38115	1.313000	0.45069	0.184000	0.17185	CTC		0.363	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	136	1	0	0.000602214	1	0.000649039	5	136				
ANKRD12	23253	broad.mit.edu	37	18	9263874	9263874	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9263874C>T	ENST00000262126.4	+	10	5991	c.5751C>T	c.(5749-5751)caC>caT	p.H1917H	ANKRD12_ENST00000400020.3_Silent_p.H1894H|ANKRD12_ENST00000383440.2_Silent_p.H1894H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1917						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTTGCAACACAGTATTGAAA	0.308																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5680-5682)caC>caT		ankyrin repeat domain 12							57.0	56.0	56.0					18																	9263874		2203	4299	6502	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9263874C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5751C>T	18.37:g.9263874C>T						ANKRD12_ENST00000262126.3_Silent_p.H1917H|ANKRD12_ENST00000400020.3_Silent_p.H1894H	p.H1894H	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			9	5939	+			1917					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.5682C>T	CCDS11843.1																																																																																				0.308	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		13	19	0	0	0	1	0	13	19				
CAPNS1	826	broad.mit.edu	37	19	36637211	36637211	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36637211T>C	ENST00000246533.3	+	9	1316	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	CAPNS1_ENST00000587718.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000589146.1_Missense_Mutation_p.F66L|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000590874.1_Missense_Mutation_p.F210L|CAPNS1_ENST00000588780.1_Missense_Mutation_p.F250L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	240	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACGCCATGTTCCGTGAGTG	0.507																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(718-720)Ttc>Ctc		calpain, small subunit 1							188.0	178.0	182.0					19																	36637211		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36637211T>C	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.718T>C	19.37:g.36637211T>C	ENSP00000246533:p.Phe240Leu					CAPNS1_ENST00000588780.1_Missense_Mutation_p.F250L|CAPNS1_ENST00000587718.1_Missense_Mutation_p.F240L|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.F210L|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000589146.1_Missense_Mutation_p.F66L	p.F240L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1316	+	Esophageal squamous(110;0.162)		240			EF-hand 5.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.718T>C	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	t	32	5.157006	0.94686	.	.	ENSG00000126247	ENST00000246533	T	0.56941	0.43	5.33	5.33	0.75918	EF-hand-like domain (1);	0.045145	0.85682	D	0.000000	T	0.61173	0.2326	M	0.88031	2.925	0.58432	D	0.99999	D	0.59767	0.986	B	0.42798	0.398	T	0.72776	-0.4191	10	0.87932	D	0	.	13.543	0.61686	0.0:0.0:0.0:1.0	.	240	P04632	CPNS1_HUMAN	L	240	ENSP00000246533:F240L	ENSP00000246533:F240L	F	+	1	0	CAPNS1	41329051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.338000	0.79269	2.138000	0.66242	0.459000	0.35465	TTC		0.507	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			67	98	0	0	0	1	0	67	98				
SIPA1L1	26037	broad.mit.edu	37	14	72139292	72139292	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72139292G>A	ENST00000555818.1	+	9	3405	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	SIPA1L1_ENST00000381232.3_Silent_p.T1019T|SIPA1L1_ENST00000537413.1_Silent_p.T494T|SIPA1L1_ENST00000358550.2_Silent_p.T1019T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1019	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATCTGTCACGGTGAAGGTTG	0.592																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3055-3057)acG>acA		signal-induced proliferation-associated 1 like 1							78.0	65.0	69.0					14																	72139292		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72139292G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3057G>A	14.37:g.72139292G>A						SIPA1L1_ENST00000537413.1_Silent_p.T494T|SIPA1L1_ENST00000381232.3_Silent_p.T1019T|SIPA1L1_ENST00000358550.2_Silent_p.T1019T	p.T1019T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	9	3405	+			1019			PDZ.		J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.3057G>A	CCDS9807.1																																																																																				0.592	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		15	24	0	0	0	1	0	15	24				
TICRR	90381	broad.mit.edu	37	15	90168142	90168142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90168142G>A	ENST00000268138.7	+	20	4706	c.4601G>A	c.(4600-4602)tGc>tAc	p.C1534Y	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.C1533Y			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1534					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGGAGACAGTGCCAGGCTTCG	0.582																																						ENST00000268138.7																			0											c.(4600-4602)tGc>tAc		TOPBP1-interacting checkpoint and replication regulator							95.0	99.0	98.0					15																	90168142		2200	4299	6499	SO:0001583	missense	90381							g.chr15:90168142G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4601G>A	15.37:g.90168142G>A	ENSP00000268138:p.Cys1534Tyr					KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.C1533Y	p.C1534Y							20	4706	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.4601G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629718	0.28978	.	.	ENSG00000140534	ENST00000268138	T	0.07688	3.17	4.58	3.66	0.41972	.	0.883440	0.09631	N	0.776283	T	0.06096	0.0158	N	0.22421	0.69	0.80722	D	1	P	0.34546	0.456	B	0.27380	0.079	T	0.41034	-0.9531	10	0.15066	T	0.55	4.9044	12.9813	0.58567	0.0794:0.0:0.9206:0.0	.	1534	Q7Z2Z1	TICRR_HUMAN	Y	1534	ENSP00000268138:C1534Y	ENSP00000268138:C1534Y	C	+	2	0	C15orf42	87969146	0.042000	0.20092	0.018000	0.16275	0.297000	0.27493	0.849000	0.27723	1.033000	0.39918	0.655000	0.94253	TGC		0.582	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		4	53	0	0	0	1	0	4	53				
SCP2	6342	broad.mit.edu	37	1	53416537	53416537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53416537G>A	ENST00000528311.1	+	3	363	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	SCP2_ENST00000371509.4_Intron|SCP2_ENST00000371514.3_Missense_Mutation_p.A104T|SCP2_ENST00000407246.2_Missense_Mutation_p.A80T|SCP2_ENST00000371513.5_Intron	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTGTTTATGGCCCGCCAGCT	0.413																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(310-312)Gcc>Acc		sterol carrier protein 2							188.0	175.0	179.0					1																	53416537		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53416537G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.67G>A	1.37:g.53416537G>A	ENSP00000434132:p.Ala23Thr					SCP2_ENST00000528311.1_Missense_Mutation_p.A23T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.A80T|SCP2_ENST00000371513.5_Intron	p.A104T	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			4	478	+			104					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.310G>A	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.889836|4.889836	0.91889|0.91889	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000407246|ENST00000529363	D;D;D|.	0.98717|.	-5.09;-2.88;-5.09|.	5.61|5.61	4.68|4.68	0.58851|0.58851	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.379637|.	0.28273|.	N|.	0.015943|.	D|.	0.88991|.	0.6588|.	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	P;P|.	0.50272|.	0.741;0.933|.	P;P|.	0.62491|.	0.673;0.903|.	D|.	0.93069|.	0.6481|.	10|.	0.87932|.	D|.	0|.	-0.0218|-0.0218	14.5578|14.5578	0.68113|0.68113	0.0:0.0:0.8522:0.1478|0.0:0.0:0.8522:0.1478	.|.	80;104|.	C9JC79;P22307|.	.;NLTP_HUMAN|.	T|X	104;23;80|78	ENSP00000360569:A104T;ENSP00000434132:A23T;ENSP00000384569:A80T|.	ENSP00000360569:A104T|.	A|W	+|+	1|3	0|0	SCP2|SCP2	53189125|53189125	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	7.033000|7.033000	0.76504|0.76504	1.315000|1.315000	0.45114|0.45114	0.563000|0.563000	0.77884|0.77884	GCC|TGG		0.413	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		55	88	0	0	0	1	0	55	88				
SLC6A14	11254	broad.mit.edu	37	X	115573909	115573909	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573909T>C	ENST00000371900.4	+	4	489	c.401T>C	c.(400-402)gTc>gCc	p.V134A		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	134					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TATTACAATGTCATAATTGCC	0.318																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(400-402)gTc>gCc		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						140.0	136.0	137.0					X																	115573909		2203	4298	6501	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115573909T>C	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.401T>C	X.37:g.115573909T>C	ENSP00000360967:p.Val134Ala						p.V134A	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			4	489	+			134					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.401T>C	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469427	0.84533	.	.	ENSG00000087916	ENST00000371900	T	0.79653	-1.29	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	L	0.58354	1.805	0.48395	D	0.99964	D	0.63046	0.992	P	0.60541	0.876	D	0.86910	0.2060	10	0.72032	D	0.01	.	12.5461	0.56201	0.0:0.0:0.0:1.0	.	134	Q9UN76	S6A14_HUMAN	A	134	ENSP00000360967:V134A	ENSP00000360967:V134A	V	+	2	0	SLC6A14	115487937	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.668000	0.61568	1.869000	0.54173	0.486000	0.48141	GTC		0.318	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			9	156	0	0	0	1	0	9	156				
ZNF347	84671	broad.mit.edu	37	19	53645134	53645134	+	Missense_Mutation	SNP	C	C	T	rs142905085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53645134C>T	ENST00000334197.7	-	5	1015	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZNF347_ENST00000601469.2_Missense_Mutation_p.R317H|ZNF347_ENST00000452676.2_Missense_Mutation_p.R317H|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACATTTGTAACGTTTTTCGCC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		22397	0.0		0.001	False		,,,				2504	0.0				Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(949-951)cGt>cAt		zinc finger protein 347		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	156.0	148.0	150.0		950,950,947	-3.1	0.0	19	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	317/841,317/841,316/840	53645134	1,13005	2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645134C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.947G>A	19.37:g.53645134C>T	ENSP00000334146:p.Arg316His					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R317H|ZNF347_ENST00000334197.7_Missense_Mutation_p.R316H	p.R317H	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1376	-			316					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.950G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352629	0.41700	0.0	1.16E-4	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.18810	2.19;2.19	2.85	-3.11	0.05299	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21267	0.0512	L	0.37800	1.135	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.51742	0.55;0.678	T	0.20472	-1.0274	9	0.87932	D	0	.	7.7698	0.29001	0.1063:0.4917:0.402:0.0	.	317;316	G5E9N4;Q96SE7	.;ZN347_HUMAN	H	316;317	ENSP00000334146:R316H;ENSP00000405218:R317H	ENSP00000334146:R316H	R	-	2	0	ZNF347	58336946	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.075000	0.14686	-0.635000	0.05531	-0.165000	0.13383	CGT		0.373	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		53	64	0	0	0	1	0	53	64				
DIP2B	57609	broad.mit.edu	37	12	51126253	51126253	+	Silent	SNP	C	C	T	rs143164072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51126253C>T	ENST00000301180.5	+	32	3949	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1305						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.I1305I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCAAAGACATCGGGCTGTCCC	0.542																																						ENST00000301180.5																			1	Substitution - coding silent(1)	p.I1305I(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3913-3915)atC>atT		DIP2 disco-interacting protein 2 homolog B (Drosophila)		C		1,4405	2.1+/-5.4	0,1,2202	93.0	83.0	86.0		3915	-2.9	0.8	12	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DIP2B	NM_173602.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1305/1577	51126253	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51126253C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3915C>T	12.37:g.51126253C>T							p.I1305I	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			32	3949	+			1305					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.3915C>T	CCDS31799.1																																																																																				0.542	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		38	50	0	0	0	1	0	38	50				
HHLA2	11148	broad.mit.edu	37	3	108074138	108074138	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108074138C>G	ENST00000357759.5	+	5	1009	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	HHLA2_ENST00000491820.1_Missense_Mutation_p.L199V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L199V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L199V|HHLA2_ENST00000467562.1_Missense_Mutation_p.L135V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	199	Ig-like C1-type.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TAACAGCCCACTGAATATTAC	0.403																																						ENST00000357759.5																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(595-597)Ctg>Gtg		HERV-H LTR-associating 2							85.0	82.0	83.0					3																	108074138		1848	4094	5942	SO:0001583	missense	11148					integral to membrane		g.chr3:108074138C>G	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.595C>G	3.37:g.108074138C>G	ENSP00000350402:p.Leu199Val					HHLA2_ENST00000489514.2_Missense_Mutation_p.L199V|HHLA2_ENST00000467562.1_Missense_Mutation_p.L135V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L199V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L199V	p.L199V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN			5	1009	+			199			Ig-like C1-type.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.595C>G	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.716|5.716	0.316519|0.316519	0.10845|0.10845	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.07567|.	3.18;3.18;3.18;3.18;3.18|.	5.71|5.71	-1.96|-1.96	0.07525|0.07525	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);|.	1.456190|.	0.04933|.	N|.	0.457243|.	T|T	0.14141|0.14141	0.0342|0.0342	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	B;B;B|.	0.29552|.	0.248;0.248;0.248|.	B;B;B|.	0.25884|.	0.064;0.064;0.064|.	T|T	0.21793|0.21793	-1.0235|-1.0235	9|5	.|.	.|.	.|.	-7.9554|-7.9554	2.1303|2.1303	0.03749|0.03749	0.2255:0.2529:0.3695:0.152|0.2255:0.2529:0.3695:0.152	.|.	135;199;199|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	V|S	199;135;199;199;199|101	ENSP00000418284:L199V;ENSP00000418345:L135V;ENSP00000350402:L199V;ENSP00000419207:L199V;ENSP00000417856:L199V|.	.|.	L|T	+|+	1|2	2|0	HHLA2|HHLA2	109556828|109556828	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.050000|0.050000	0.14768|0.14768	-0.810000|-0.810000	0.04505|0.04505	-0.801000|-0.801000	0.04427|0.04427	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.403	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		19	31	0	0	0	1	0	19	31				
OR10AD1	121275	broad.mit.edu	37	12	48596366	48596366	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48596366T>G	ENST00000310248.2	-	1	804	c.710A>C	c.(709-711)aAg>aCg	p.K237T		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGAGAAAGTCTTCCCCCGACC	0.532																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(709-711)aAg>aCg		olfactory receptor, family 10, subfamily AD, member 1							90.0	84.0	86.0					12																	48596366		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596366T>G		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.710A>C	12.37:g.48596366T>G	ENSP00000308689:p.Lys237Thr						p.K237T	NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN			1	804	-			237					B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.710A>C	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483696	0.44147	.	.	ENSG00000172640	ENST00000310248	T	0.00375	7.71	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000974	T	0.01627	0.0052	H	0.96175	3.78	0.37679	D	0.923432	D	0.89917	1.0	D	0.87578	0.998	T	0.15925	-1.0420	10	0.87932	D	0	-14.9679	12.6723	0.56874	0.0:0.0:0.0:1.0	.	237	Q8NGE0	O10AD_HUMAN	T	237	ENSP00000308689:K237T	ENSP00000308689:K237T	K	-	2	0	OR10AD1	46882633	1.000000	0.71417	0.905000	0.35620	0.039000	0.13416	4.771000	0.62318	2.159000	0.67721	0.459000	0.35465	AAG		0.532	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			12	21	0	0	0	1	0	12	21				
GSTZ1	2954	broad.mit.edu	37	14	77797420	77797420	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77797420T>C	ENST00000556627.1	+	8	583	c.452T>C	c.(451-453)gTg>gCg	p.V151A	GSTZ1_ENST00000557053.1_Missense_Mutation_p.V81A|GSTZ1_ENST00000554279.1_Missense_Mutation_p.V164A|GSTZ1_ENST00000216465.5_Missense_Mutation_p.V178A|GSTZ1_ENST00000557639.1_Missense_Mutation_p.V123A|GSTZ1_ENST00000553586.1_Missense_Mutation_p.V179A|GSTZ1_ENST00000361389.4_Missense_Mutation_p.V123A|GSTZ1_ENST00000349555.3_Missense_Mutation_p.V136A|GSTZ1_ENST00000393734.1_Missense_Mutation_p.V123A			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	178	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AGATTCAAGGTGGATCTCACC	0.577																																						ENST00000393734.1																			0				lung(2)|prostate(1)	3						c.(367-369)gTg>gCg		glutathione S-transferase zeta 1	Glutathione(DB00143)						112.0	96.0	102.0					14																	77797420		2203	4300	6503	SO:0001583	missense	2954				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	g.chr14:77797420T>C	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.452T>C	14.37:g.77797420T>C	ENSP00000450487:p.Val151Ala					GSTZ1_ENST00000557053.1_Missense_Mutation_p.V81A|GSTZ1_ENST00000557639.1_Missense_Mutation_p.V123A|GSTZ1_ENST00000556627.1_Missense_Mutation_p.V151A|GSTZ1_ENST00000216465.5_Missense_Mutation_p.V178A|GSTZ1_ENST00000361389.4_Missense_Mutation_p.V123A|GSTZ1_ENST00000553586.1_Missense_Mutation_p.V179A|GSTZ1_ENST00000349555.3_Missense_Mutation_p.V136A|GSTZ1_ENST00000554279.1_Missense_Mutation_p.V164A	p.V123A	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	10	905	+			178			GST C-terminal.		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000556627.1	37	c.368T>C		.	.	.	.	.	.	.	.	.	.	T	16.07	3.018135	0.54576	.	.	ENSG00000100577	ENST00000216465;ENST00000361389;ENST00000554279;ENST00000557639;ENST00000349555;ENST00000556627;ENST00000557053;ENST00000393734;ENST00000553586	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.48	5.48	0.80851	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	M	0.75777	2.31	0.80722	D	1	D;P	0.54207	0.965;0.951	P;P	0.58660	0.819;0.843	T	0.63571	-0.6607	10	0.59425	D	0.04	-3.6069	13.0867	0.59144	0.0:0.0:0.0:1.0	.	136;178	A6NED0;O43708	.;MAAI_HUMAN	A	178;123;164;123;136;151;81;123;179	ENSP00000216465:V178A;ENSP00000354959:V123A;ENSP00000452498:V164A;ENSP00000451927:V123A;ENSP00000314404:V136A;ENSP00000450487:V151A;ENSP00000451150:V81A;ENSP00000377335:V123A;ENSP00000451976:V179A	ENSP00000216465:V178A	V	+	2	0	GSTZ1	76867173	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	5.860000	0.69546	2.076000	0.62316	0.460000	0.39030	GTG		0.577	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1	NM_145870		4	52	0	0	0	1	0	4	52				
CAPN13	92291	broad.mit.edu	37	2	30993237	30993237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30993237G>A	ENST00000295055.8	-	5	642	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R156C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	156	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGCGAGGACGCACAAAGAGG	0.552																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(466-468)Cgt>Tgt		calpain 13							185.0	194.0	191.0					2																	30993237		2135	4250	6385	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30993237G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.466C>T	2.37:g.30993237G>A	ENSP00000295055:p.Arg156Cys					CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R156C	p.R156C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			5	642	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		156			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.466C>T	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.128885	0.37533	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.88277	-2.36;-2.36	5.46	-2.05	0.07321	Peptidase C2, calpain, catalytic domain (3);	1.012590	0.07861	N	0.966354	D	0.89248	0.6661	L	0.55990	1.75	0.09310	N	1	D	0.76494	0.999	P	0.60682	0.878	T	0.77838	-0.2439	10	0.72032	D	0.01	.	2.3134	0.04192	0.1509:0.1105:0.38:0.3586	.	156	Q6MZZ7	CAN13_HUMAN	C	156	ENSP00000295055:R156C;ENSP00000431298:R156C	ENSP00000295055:R156C	R	-	1	0	CAPN13	30846741	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.205000	0.17356	-0.400000	0.07656	0.561000	0.74099	CGT		0.552	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		36	47	0	0	0	1	0	36	47				
RSPRY1	89970	broad.mit.edu	37	16	57238868	57238868	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57238868G>A	ENST00000537866.1	+	2	1171	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V100M			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	100						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAAACAAAATGTGGATGGGCT	0.517																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(298-300)Gtg>Atg		ring finger and SPRY domain containing 1							80.0	79.0	79.0					16																	57238868		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238868G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.298G>A	16.37:g.57238868G>A	ENSP00000443176:p.Val100Met					RSPRY1_ENST00000394420.4_Missense_Mutation_p.V100M	p.V100M			Q96DX4	RSPRY_HUMAN			2	1171	+			100					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.298G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847093	0.91277	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.87887	-2.31;-2.31	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.93006	0.7774	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.813	D	0.93330	0.6700	10	0.72032	D	0.01	.	19.2604	0.93966	0.0:0.0:1.0:0.0	.	100;100	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	M	100	ENSP00000377942:V100M;ENSP00000443176:V100M	ENSP00000377942:V100M	V	+	1	0	RSPRY1	55796369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.630000	0.89119	0.655000	0.94253	GTG		0.517	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		17	26	0	0	0	1	0	17	26				
ATAD3B	83858	broad.mit.edu	37	1	1421506	1421506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421506G>A	ENST00000308647.7	+	10	1096	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	327						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGAAGCACGGGTGCGCGAC	0.662																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(979-981)cGg>cAg		ATPase family, AAA domain containing 3B							63.0	77.0	72.0					1																	1421506		2203	4299	6502	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421506G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.980G>A	1.37:g.1421506G>A	ENSP00000311766:p.Arg327Gln						p.R327Q	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	10	1096	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	327					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.980G>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	11.16	1.555623	0.27739	.	.	ENSG00000160072	ENST00000360489;ENST00000378737;ENST00000308647	D	0.94862	-3.54	2.26	1.31	0.21738	.	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.63208	1.945	0.80722	D	1	D;D	0.69078	0.997;0.987	P;P	0.58331	0.837;0.459	D	0.92557	0.6055	10	0.62326	D	0.03	.	8.2541	0.31743	0.1278:0.0:0.8722:0.0	.	281;327	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	Q	222;144;327	ENSP00000311766:R327Q	ENSP00000311766:R327Q	R	+	2	0	ATAD3B	1411369	1.000000	0.71417	0.013000	0.15412	0.002000	0.02628	7.247000	0.78257	0.283000	0.22279	-1.088000	0.02184	CGG		0.662	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		13	46	0	0	0	1	0	13	46				
ASCC3	10973	broad.mit.edu	37	6	101296419	101296419	+	Nonsense_Mutation	SNP	G	G	A	rs377618341		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101296419G>A	ENST00000369162.2	-	4	750	c.406C>T	c.(406-408)Cga>Tga	p.R136*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.R136*	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	136					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAAATAATTCGATTAGTAGCA	0.383																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(406-408)Cga>Tga		activating signal cointegrator 1 complex subunit 3							57.0	54.0	55.0					6																	101296419		2203	4300	6503	SO:0001587	stop_gained	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101296419G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.406C>T	6.37:g.101296419G>A	ENSP00000358159:p.Arg136*					ASCC3_ENST00000522650.1_Nonsense_Mutation_p.R136*	p.R136*	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	4	750	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	136					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	ENST00000369162.2	37	c.406C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640481	0.96693	.	.	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723	.	.	.	5.85	-0.854	0.10705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8796	0.92351	0.0:0.0:0.2408:0.7592	.	.	.	.	X	136	.	ENSP00000320777:R136X	R	-	1	2	ASCC3	101403140	0.992000	0.36948	0.461000	0.27105	0.969000	0.65631	1.458000	0.35223	-0.514000	0.06488	-0.181000	0.13052	CGA		0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		5	65	0	0	0	1	0	5	65				
XAGE5	170627	broad.mit.edu	37	X	52844174	52844174	+	Silent	SNP	C	C	T	rs146352090		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:52844174C>T	ENST00000375501.1	+	3	237	c.237C>T	c.(235-237)tgC>tgT	p.C79C	XAGE5_ENST00000425386.1_Silent_p.C79C|XAGE5_ENST00000351072.1_Silent_p.C79C|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	79										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGGATGAATGCGGAGATAGTC	0.438													.|||	22	0.00582781	0.0	0.0	3775	,	,		13398	0.0		0.0	False		,,,				2504	0.0225					ENST00000351072.1																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(235-237)tgC>tgT		X antigen family, member 5		T		0,3835		0,0,1632,571	62.0	53.0	56.0		237	-1.4	0.0	X	dbSNP_134	56	2,6726		0,2,2426,1872	no	coding-synonymous	XAGE5	NM_130775.2		0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189		79/109	52844174	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	170627							g.chrX:52844174C>T	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.237C>T	X.37:g.52844174C>T						XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375501.1_Silent_p.C79C|XAGE5_ENST00000425386.1_Silent_p.C79C|XAGE5_ENST00000375503.3_3'UTR	p.C79C			Q8WWM1	GAGD5_HUMAN			4	303	+			79					Q5JS81	Silent	SNP	ENST00000375501.1	37	c.237C>T	CCDS14346.1																																																																																				0.438	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775		21	38	0	0	0	1	0	21	38				
VAV1	7409	broad.mit.edu	37	19	6829876	6829876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829876C>A	ENST00000602142.1	+	14	1427	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	VAV1_ENST00000596764.1_Missense_Mutation_p.L417M|VAV1_ENST00000539284.1_Missense_Mutation_p.L352M|VAV1_ENST00000304076.2_Missense_Mutation_p.L449M|VAV1_ENST00000599806.1_Missense_Mutation_p.L394M	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	449	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTTTGTAAACCTGCACAGCTT	0.542																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1345-1347)Ctg>Atg		vav 1 guanine nucleotide exchange factor							150.0	124.0	132.0					19																	6829876		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6829876C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1345C>A	19.37:g.6829876C>A	ENSP00000472929:p.Leu449Met					VAV1_ENST00000596764.1_Missense_Mutation_p.L417M|VAV1_ENST00000539284.1_Missense_Mutation_p.L352M|VAV1_ENST00000599806.1_Missense_Mutation_p.L394M|VAV1_ENST00000602142.1_Missense_Mutation_p.L449M	p.L449M	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			14	1439	+			449			PH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1345C>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002911	0.74932	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.92858	-3.12;-3.12	4.82	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000004	D	0.94909	0.8354	M	0.78049	2.395	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93083	0.6493	10	0.23891	T	0.37	.	11.5824	0.50900	0.0:0.9095:0.0:0.0905	.	352;449;394;449	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	M	449;352	ENSP00000302269:L449M;ENSP00000443242:L352M	ENSP00000302269:L449M	L	+	1	2	VAV1	6780876	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.097000	0.41748	1.124000	0.41980	0.655000	0.94253	CTG		0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			11	78	1	0	1.08611e-07	1	1.2824e-07	11	78				
CCDC107	203260	broad.mit.edu	37	9	35661071	35661071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35661071C>T	ENST00000426546.2	+	5	805	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.R220W|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	247						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGTGGGGCGGGGACTACG	0.592																																						ENST00000426546.2																			0				endometrium(1)|lung(3)|skin(1)	5						c.(739-741)Cgg>Tgg		coiled-coil domain containing 107							67.0	66.0	66.0					9																	35661071		2203	4300	6503	SO:0001583	missense	203260					integral to membrane		g.chr9:35661071C>T	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.739C>T	9.37:g.35661071C>T	ENSP00000414964:p.Arg247Trp					CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.R220W|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR	p.R247W	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	805	+	all_epithelial(49;0.217)		247					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	c.739C>T	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	C	7.290	0.610882	0.14066	.	.	ENSG00000159884	ENST00000426546;ENST00000378409	T;T	0.34472	1.78;1.36	5.34	4.37	0.52481	.	0.616282	0.14672	N	0.305315	T	0.19005	0.0456	N	0.08118	0	0.31274	N	0.691398	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.03840	-1.0999	10	0.52906	T	0.07	-4.2459	8.0691	0.30678	0.0:0.8901:0.0:0.1099	.	220;247	F8W8S5;Q8WV48	.;CC107_HUMAN	W	247;220	ENSP00000414964:R247W;ENSP00000367665:R220W	ENSP00000367665:R220W	R	+	1	2	CCDC107	35651071	0.959000	0.32827	0.211000	0.23655	0.030000	0.12068	1.242000	0.32755	2.781000	0.95711	0.655000	0.94253	CGG		0.592	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		5	76	0	0	0	1	0	5	76				
ECI1	1632	broad.mit.edu	37	16	2293178	2293178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2293178C>T	ENST00000301729.4	-	6	658	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ECI1_ENST00000570258.1_Missense_Mutation_p.R145H|ECI1_ENST00000562238.1_Missense_Mutation_p.R187H|RP11-304L19.11_ENST00000565709.1_RNA	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	204				RALQ -> SAPE (in Ref. 5; AAA35485). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						CTGCAGGGCACGCTCCGCCGC	0.677																																						ENST00000301729.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(610-612)cGt>cAt		enoyl-CoA delta isomerase 1							19.0	22.0	21.0					16																	2293178		2196	4296	6492	SO:0001583	missense	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2293178C>T		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.611G>A	16.37:g.2293178C>T	ENSP00000301729:p.Arg204His					ECI1_ENST00000562238.1_Missense_Mutation_p.R187H|ECI1_ENST00000570258.1_Missense_Mutation_p.R145H	p.R204H	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN			6	658	-			204	RALQ -> SAPE (in Ref. 5; AAA35485).				A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Missense_Mutation	SNP	ENST00000301729.4	37	c.611G>A	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	C	4.237	0.042922	0.08196	.	.	ENSG00000167969	ENST00000301729	T	0.68025	-0.3	4.9	-1.05	0.10036	Crotonase, core (1);	0.780614	0.12474	N	0.465723	T	0.60676	0.2287	M	0.69823	2.125	0.27515	N	0.951588	B;P	0.36378	0.093;0.55	B;B	0.35114	0.012;0.196	T	0.55366	-0.8152	10	0.51188	T	0.08	-1.0135	8.6919	0.34271	0.0:0.2955:0.0:0.7045	.	187;204	P42126-2;P42126	.;ECI1_HUMAN	H	204	ENSP00000301729:R204H	ENSP00000301729:R204H	R	-	2	0	ECI1	2233179	0.000000	0.05858	0.054000	0.19295	0.035000	0.12851	-0.188000	0.09642	-0.029000	0.13827	0.591000	0.81541	CGT		0.677	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			4	25	0	0	0	1	0	4	25				
TPCN2	219931	broad.mit.edu	37	11	68822721	68822721	+	Silent	SNP	C	C	T	rs199768477	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68822721C>T	ENST00000294309.3	+	4	431	c.330C>T	c.(328-330)gaC>gaT	p.D110D	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.D110D	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	110					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCACGGCGGACGTGCGCTACC	0.597													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16619	0.0		0.0	False		,,,				2504	0.0					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(328-330)gaC>gaT		two pore segment channel 2							146.0	133.0	138.0					11																	68822721		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822721C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.330C>T	11.37:g.68822721C>T						TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.D110D	p.D110D	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	431	+			110					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.330C>T	CCDS8189.1																																																																																				0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	100	0	0	0	1	0	4	100				
TENM3	55714	broad.mit.edu	37	4	183721441	183721441	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183721441C>T	ENST00000511685.1	+	28	8160	c.8037C>T	c.(8035-8037)ccC>ccT	p.P2679P	TENM3_ENST00000406950.2_Silent_p.P2679P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2679					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGCAGTACCCCGAGCTGGCCG	0.706																																						ENST00000511685.1																			0											c.(8035-8037)ccC>ccT		teneurin transmembrane protein 3							10.0	11.0	11.0					4																	183721441		2011	4057	6068	SO:0001819	synonymous_variant	55714							g.chr4:183721441C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.8037C>T	4.37:g.183721441C>T						TENM3_ENST00000406950.2_Silent_p.P2679P	p.P2679P							28	8160	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.8037C>T	CCDS47165.1																																																																																				0.706	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			3	10	0	0	0	1	0	3	10				
MUC16	94025	broad.mit.edu	37	19	9045932	9045932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045932G>T	ENST00000397910.4	-	5	35902	c.35699C>A	c.(35698-35700)tCt>tAt	p.S11900Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11902	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S11900F(1)|p.S7533F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAAGCCCAGAGACAGCAGG	0.502																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.S11900F(1)|p.S7533F(1)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35698-35700)tCt>tAt		mucin 16, cell surface associated							98.0	93.0	94.0					19																	9045932		1914	4135	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045932G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35699C>A	19.37:g.9045932G>T	ENSP00000381008:p.Ser11900Tyr						p.S11900Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35902	-			11902			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35699C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764123	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	3.59	-0.0941	0.13646	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	.	.	.	P	0.49253	0.921	B	0.40534	0.332	T	0.43507	-0.9387	8	0.87932	D	0	.	2.7519	0.05283	0.189:0.0:0.2981:0.5128	.	11900	B5ME49	.	Y	11900	ENSP00000381008:S11900Y	ENSP00000381008:S11900Y	S	-	2	0	MUC16	8906932	0.002000	0.14202	0.000000	0.03702	0.246000	0.25737	0.512000	0.22755	0.019000	0.15079	0.555000	0.69702	TCT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	101	1	0	0.0135373	1	0.0140872	12	101				
ABCB7	22	broad.mit.edu	37	X	74289279	74289279	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74289279A>C	ENST00000373394.3	-	11	1383	c.1376T>G	c.(1375-1377)aTg>aGg	p.M459R	ABCB7_ENST00000339447.4_Missense_Mutation_p.M419R|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000253577.3_Missense_Mutation_p.M460R			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	459					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGGAGATGCCATCACTTTGTC	0.428																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1378-1380)aTg>aGg		ATP-binding cassette, sub-family B (MDR/TAP), member 7							88.0	78.0	81.0					X																	74289279		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74289279A>C	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1376T>G	X.37:g.74289279A>C	ENSP00000362492:p.Met459Arg					ABCB7_ENST00000373394.3_Missense_Mutation_p.M459R|ABCB7_ENST00000339447.4_Missense_Mutation_p.M419R|ABCB7_ENST00000534570.1_5'UTR	p.M460R	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			11	1403	-			459					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1379T>G		.	.	.	.	.	.	.	.	.	.	A	10.47	1.359503	0.24598	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.87103	-2.21;-2.19;-2.21;-2.2	5.31	4.13	0.48395	ABC transporter, transmembrane domain, type 1 (1);	0.168387	0.64402	D	0.000010	T	0.69602	0.3129	N	0.02247	-0.625	0.50039	D	0.999845	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.18871	0.001;0.023;0.001;0.003	T	0.66520	-0.5903	10	0.45353	T	0.12	-22.3879	9.7371	0.40395	0.9155:0.0:0.0845:0.0	.	433;419;459;460	G3V1J3;G3XAC4;O75027;O75027-2	.;.;ABCB7_HUMAN;.	R	433;460;419;459;433	ENSP00000253577:M460R;ENSP00000343849:M419R;ENSP00000362492:M459R;ENSP00000436586:M433R	ENSP00000253577:M460R	M	-	2	0	ABCB7	74206004	1.000000	0.71417	0.914000	0.36105	0.754000	0.42855	5.821000	0.69257	1.757000	0.51966	0.486000	0.48141	ATG		0.428	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		8	68	0	0	0	1	0	8	68				
TRMT61B	55006	broad.mit.edu	37	2	29084149	29084149	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29084149A>G	ENST00000306108.5	-	3	851	c.828T>C	c.(826-828)agT>agC	p.S276S	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	276					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTACCTCAAAACTTATGACTC	0.318																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(826-828)agT>agC		tRNA methyltransferase 61 homolog B (S. cerevisiae)							128.0	111.0	116.0					2																	29084149		2203	4300	6503	SO:0001819	synonymous_variant	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29084149A>G	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.828T>C	2.37:g.29084149A>G						TRMT61B_ENST00000484060.1_5'UTR	p.S276S	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			3	851	-			276					Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	c.828T>C	CCDS1768.1																																																																																				0.318	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		17	25	0	0	0	1	0	17	25				
LRRN3	54674	broad.mit.edu	37	7	110763060	110763060	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110763060A>T	ENST00000422987.3	+	2	1063	c.232A>T	c.(232-234)Act>Tct	p.T78S	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.T78S|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T78S|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	78					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTCCTACAGACTAACAATAT	0.353																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(232-234)Act>Tct		leucine rich repeat neuronal 3							98.0	92.0	94.0					7																	110763060		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763060A>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.232A>T	7.37:g.110763060A>T	ENSP00000412417:p.Thr78Ser					LRRN3_ENST00000422987.3_Missense_Mutation_p.T78S|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T78S	p.T78S	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1278	+			78					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.232A>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	0.658	-0.806799	0.02819	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.21543	2.0;2.0;2.0;4.42	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000010	T	0.09113	0.0225	N	0.10837	0.055	0.38721	D	0.953442	B	0.25772	0.134	B	0.21917	0.037	T	0.16158	-1.0412	10	0.02654	T	1	.	8.9614	0.35849	0.8633:0.0:0.1367:0.0	.	78	Q9H3W5	LRRN3_HUMAN	S	78	ENSP00000312001:T78S;ENSP00000397312:T78S;ENSP00000412417:T78S;ENSP00000407927:T78S	ENSP00000312001:T78S	T	+	1	0	LRRN3	110550296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.638000	0.61353	2.367000	0.80283	0.528000	0.53228	ACT		0.353	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		9	119	0	0	0	1	0	9	119				
FLG2	388698	broad.mit.edu	37	1	152326320	152326320	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152326320A>G	ENST00000388718.5	-	3	4014	c.3942T>C	c.(3940-3942)acT>acC	p.T1314T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1314					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCCATGAGTAGTTCCTT	0.468																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3940-3942)acT>acC		filaggrin family member 2							395.0	341.0	359.0					1																	152326320		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152326320A>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3942T>C	1.37:g.152326320A>G						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.T1314T	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4014	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1314					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.3942T>C	CCDS30861.1																																																																																				0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	286	0	0	0	1	0	5	286				
CLEC18B	497190	broad.mit.edu	37	16	74447532	74447532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74447532G>T	ENST00000339953.5	-	4	620	c.499C>A	c.(499-501)Ctg>Atg	p.L167M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	167	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGAGCACAGGTGCCGCCCA	0.617																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(499-501)Ctg>Atg		C-type lectin domain family 18, member B							151.0	142.0	145.0					16																	74447532		2198	4300	6498	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74447532G>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.499C>A	16.37:g.74447532G>T	ENSP00000341051:p.Leu167Met						p.L167M	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			4	620	-			167			SCP.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.499C>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	14.01	2.406393	0.42715	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.08193	3.12	3.1	2.09	0.27110	CAP domain (3);	1.103750	0.06856	N	0.798292	T	0.16769	0.0403	L	0.39633	1.23	0.09310	N	1	D;D;D	0.67145	0.996;0.97;0.964	P;P;P	0.61658	0.892;0.827;0.837	T	0.29212	-1.0019	10	0.39692	T	0.17	.	7.7294	0.28779	0.0:0.262:0.738:0.0	.	87;167;167	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	M	167;167;167;87	ENSP00000341051:L167M	ENSP00000268492:L167M	L	-	1	2	CLEC18B	73005033	0.010000	0.17322	0.013000	0.15412	0.843000	0.47879	1.930000	0.40124	0.468000	0.27243	0.537000	0.68136	CTG		0.617	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		12	151	1	0	1.49906e-05	1	1.69169e-05	12	151				
PAX5	5079	broad.mit.edu	37	9	37014994	37014994	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37014994C>A	ENST00000358127.4	-	3	484	c.410G>T	c.(409-411)aGg>aTg	p.R137M	PAX5_ENST00000377852.2_Splice_Site_p.R137M|PAX5_ENST00000414447.1_Splice_Site_p.R137M|PAX5_ENST00000377853.2_Splice_Site_p.R137M|PAX5_ENST00000522003.1_Splice_Site_p.R29M|PAX5_ENST00000377847.2_Splice_Site_p.R137M|PAX5_ENST00000523241.1_Splice_Site_p.R137M|PAX5_ENST00000520154.1_Splice_Site_p.R137M|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Splice_Site_p.R137M|PAX5_ENST00000523145.1_Splice_Site_p.R29M	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	137	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGCCCCTCACCTGTTGATGGA	0.582			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.e3+1		paired box 5							149.0	140.0	143.0					9																	37014994		2203	4300	6503	SO:0001630	splice_region_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37014994C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.410+1G>T	9.37:g.37014994C>A						PAX5_ENST00000377852.2_Splice_Site_p.R137_splice|PAX5_ENST00000522003.1_Splice_Site_p.R29_splice|PAX5_ENST00000520281.1_Splice_Site_p.R137_splice|PAX5_ENST00000523241.1_Splice_Site_p.R137_splice|PAX5_ENST00000414447.1_Splice_Site_p.R137_splice|PAX5_ENST00000377853.2_Splice_Site_p.R137_splice|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_Splice_Site_p.R29_splice|PAX5_ENST00000520154.1_Splice_Site_p.R137_splice|PAX5_ENST00000377847.2_Splice_Site_p.R137_splice	p.R137_splice	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	484	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	137			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Splice_Site	SNP	ENST00000358127.4	37	c.410_splice	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447784	0.84101	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99677	-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37	5.75	5.75	0.90469	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.094596	0.64402	D	0.000001	D	0.99846	0.9929	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D;D;P;P	0.76494	0.987;0.998;0.987;0.999;0.998;0.99;0.923;0.866	D;P;D;D;D;P;B;B	0.69824	0.962;0.871;0.962;0.966;0.955;0.623;0.442;0.442	D	0.97063	0.9772	9	.	.	.	.	20.3484	0.98803	0.0:1.0:0.0:0.0	.	137;137;137;137;137;137;137;137	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	M	137;29;137;137;137;137;137;29;29;137;137	ENSP00000350844:R137M;ENSP00000367084:R137M;ENSP00000367083:R137M;ENSP00000429637:R137M;ENSP00000429291:R137M;ENSP00000430773:R137M;ENSP00000429359:R29M;ENSP00000429197:R29M;ENSP00000412188:R137M;ENSP00000367078:R137M	.	R	-	2	0	PAX5	37004994	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.050000	0.71063	2.886000	0.99085	0.650000	0.86243	AGG		0.582	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		Missense_Mutation	6	140	1	0	0.217242	1	0.218821	6	140				
PLEKHH2	130271	broad.mit.edu	37	2	43927114	43927114	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43927114G>A	ENST00000282406.4	+	8	1127	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	339					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGAGGAAGAGACTTTTGGCA	0.453																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1015-1017)gaG>gaA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							67.0	67.0	67.0					2																	43927114		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927114G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1017G>A	2.37:g.43927114G>A							p.E339E	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			8	1127	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	339					Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.1017G>A	CCDS1812.1																																																																																				0.453	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		16	25	0	0	0	1	0	16	25				
CCDC170	80129	broad.mit.edu	37	6	151936749	151936749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151936749G>T	ENST00000239374.7	+	10	1981	c.1882G>T	c.(1882-1884)Gtg>Ttg	p.V628L	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.V635L	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	628																	CATGATAGAAGTGGTAACCAG	0.408																																						ENST00000367290.5																			0											c.(1903-1905)Gtg>Ttg		coiled-coil domain containing 170							149.0	144.0	145.0					6																	151936749		1841	4088	5929	SO:0001583	missense	80129							g.chr6:151936749G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1882G>T	6.37:g.151936749G>T	ENSP00000239374:p.Val628Leu					CCDC170_ENST00000239374.7_Missense_Mutation_p.V628L	p.V635L			Q8IYT3	CF097_HUMAN			10	1992	+			628					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1903G>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528159	0.27299	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.07800	3.16;3.17	6.17	4.35	0.52113	.	0.563972	0.18732	N	0.132713	T	0.01835	0.0058	L	0.31207	0.915	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.45411	-0.9263	10	0.28530	T	0.3	-0.4731	6.7188	0.23318	0.0632:0.111:0.5848:0.241	.	628	Q8IYT3	CF097_HUMAN	L	628;635	ENSP00000239374:V628L;ENSP00000356259:V635L	ENSP00000239374:V628L	V	+	1	0	C6orf97	151978442	0.918000	0.31147	0.029000	0.17559	0.819000	0.46315	1.675000	0.37555	0.871000	0.35750	0.655000	0.94253	GTG		0.408	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		6	116	1	0	3.59834e-05	1	4.01776e-05	6	116				
FAT2	2196	broad.mit.edu	37	5	150929016	150929016	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150929016A>C	ENST00000261800.5	-	8	4641	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1543	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCACATGAATGGTCACCC	0.542																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4627-4629)atT>atG		FAT atypical cadherin 2							77.0	71.0	73.0					5																	150929016		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150929016A>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4629T>G	5.37:g.150929016A>C	ENSP00000261800:p.Ile1543Met						p.I1543M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4641	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1543			Cadherin 13.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4629T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264706	0.59431	.	.	ENSG00000086570	ENST00000261800	T	0.69685	-0.42	4.66	0.803	0.18691	Cadherin (4);Cadherin-like (1);	0.194971	0.35646	N	0.003077	T	0.82116	0.4967	H	0.95328	3.655	0.38892	D	0.957143	P	0.49253	0.921	P	0.57846	0.828	T	0.83306	-0.0025	10	0.87932	D	0	.	9.4276	0.38590	0.4506:0.0:0.5494:0.0	.	1543	Q9NYQ8	FAT2_HUMAN	M	1543	ENSP00000261800:I1543M	ENSP00000261800:I1543M	I	-	3	3	FAT2	150909209	0.988000	0.35896	0.981000	0.43875	0.950000	0.60333	0.551000	0.23361	-0.029000	0.13827	-0.366000	0.07423	ATT		0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		17	24	0	0	0	1	0	17	24				
ZNF329	79673	broad.mit.edu	37	19	58640739	58640739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640739C>T	ENST00000598312.1	-	4	365	c.132G>A	c.(130-132)gaG>gaA	p.E44E	ZNF329_ENST00000358067.4_Silent_p.E44E	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCAAGTGTCCCTCCTGGTTCT	0.473																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(130-132)gaG>gaA		zinc finger protein 329							161.0	150.0	154.0					19																	58640739		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640739C>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.132G>A	19.37:g.58640739C>T						ZNF329_ENST00000358067.4_Silent_p.E44E	p.E44E	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	365	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	44					B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.132G>A	CCDS12972.1																																																																																				0.473	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		9	159	0	0	0	1	0	9	159				
ZNF710	374655	broad.mit.edu	37	15	90610756	90610756	+	Silent	SNP	C	C	T	rs199713092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90610756C>T	ENST00000268154.4	+	2	638	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGCCAGGTGACGACAAGGACG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14007	0.0		0.0	False		,,,				2504	0.0					ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(385-387)gaC>gaT		zinc finger protein 710							79.0	78.0	78.0					15																	90610756		2199	4297	6496	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610756C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.387C>T	15.37:g.90610756C>T							p.D129D	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	638	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		129					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.387C>T	CCDS10358.1																																																																																				0.657	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		5	5	0	0	0	1	0	5	5				
SGSM3	27352	broad.mit.edu	37	22	40802149	40802149	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40802149C>A	ENST00000248929.9	+	9	1071	c.882C>A	c.(880-882)ctC>ctA	p.L294L	SGSM3_ENST00000454798.2_Silent_p.L227L	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAAGCTGCTCCTGCGCATCT	0.617																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(880-882)ctC>ctA		small G protein signaling modulator 3							105.0	89.0	94.0					22																	40802149		2203	4300	6503	SO:0001819	synonymous_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40802149C>A	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.882C>A	22.37:g.40802149C>A						SGSM3_ENST00000454798.2_Silent_p.L227L	p.L294L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			9	1071	+			294			Rab-GAP TBC.			Silent	SNP	ENST00000248929.9	37	c.882C>A	CCDS14002.1																																																																																				0.617	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		6	61	1	0	0.00307968	1	0.00325696	6	61				
HIAT1	64645	broad.mit.edu	37	1	100525513	100525513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100525513C>T	ENST00000370152.3	+	4	459	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	108					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTGCTGCTAACGGTGTTTTTC	0.378																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(322-324)aCg>aTg		hippocampus abundant transcript 1							237.0	224.0	228.0					1																	100525513		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100525513C>T	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.323C>T	1.37:g.100525513C>T	ENSP00000359171:p.Thr108Met					RP4-714D9.2_ENST00000432294.1_RNA	p.T108M	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	4	459	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	108					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.323C>T	CCDS763.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957918	0.92726	.	.	ENSG00000156875	ENST00000370152	T	0.58210	0.35	5.58	5.58	0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75860	0.3907	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80815	-0.1214	10	0.87932	D	0	-40.4376	19.5927	0.95522	0.0:1.0:0.0:0.0	.	108	Q96MC6	HIAT1_HUMAN	M	108	ENSP00000359171:T108M	ENSP00000359171:T108M	T	+	2	0	HIAT1	100298101	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.618000	0.88619	0.557000	0.71058	ACG		0.378	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		19	212	0	0	0	1	0	19	212				
RPRD2	23248	broad.mit.edu	37	1	150337373	150337373	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150337373T>G	ENST00000369068.4	+	1	187	c.183T>G	c.(181-183)caT>caG	p.H61Q	RPRD2_ENST00000401000.4_Missense_Mutation_p.H61Q|RPRD2_ENST00000492220.1_Intron|RPRD2_ENST00000539519.1_Missense_Mutation_p.H61Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H61Q	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	61	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTCTATCATTGGATGAAGT	0.483																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(181-183)caT>caG		regulation of nuclear pre-mRNA domain containing 2							109.0	107.0	107.0					1																	150337373		1962	4158	6120	SO:0001583	missense	23248						protein binding	g.chr1:150337373T>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.183T>G	1.37:g.150337373T>G	ENSP00000358064:p.His61Gln					RPRD2_ENST00000369067.3_Missense_Mutation_p.H61Q|RPRD2_ENST00000369068.4_Missense_Mutation_p.H61Q|RPRD2_ENST00000539519.1_Missense_Mutation_p.H61Q|RPRD2_ENST00000492220.1_Intron	p.H61Q			Q5VT52	RPRD2_HUMAN			1	248	+			61			CID.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.183T>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671477	0.47781	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.42	-0.333	0.12671	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.175243	0.50627	D	0.000104	T	0.28466	0.0704	L	0.44542	1.39	0.43662	D	0.996088	D;D;D	0.64830	0.99;0.967;0.994	P;P;P	0.56612	0.802;0.618;0.792	T	0.05852	-1.0860	10	0.29301	T	0.29	-9.375	9.3472	0.38115	0.0:0.5205:0.0:0.4795	.	61;61;61	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Q	61	ENSP00000383785:H61Q;ENSP00000445482:H61Q;ENSP00000358063:H61Q;ENSP00000358064:H61Q	ENSP00000358063:H61Q	H	+	3	2	RPRD2	148603997	0.999000	0.42202	0.997000	0.53966	0.914000	0.54420	0.538000	0.23160	-0.196000	0.10366	-1.937000	0.00501	CAT		0.483	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		4	48	0	0	0	1	0	4	48				
STRIP2	57464	broad.mit.edu	37	7	129103953	129103953	+	Silent	SNP	C	C	A	rs377000207		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129103953C>A	ENST00000249344.2	+	15	1660	c.1620C>A	c.(1618-1620)atC>atA	p.I540I	STRIP2_ENST00000435494.2_Silent_p.I540I	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	540					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CTATCAATATCCTGGCAGATG	0.493																																						ENST00000249344.2																			0											c.(1618-1620)atC>atA		striatin interacting protein 2							118.0	104.0	109.0					7																	129103953		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129103953C>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1620C>A	7.37:g.129103953C>A						STRIP2_ENST00000435494.2_Silent_p.I540I	p.I540I	NM_020704.2	NP_065755.1					15	1660	+								Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.1620C>A	CCDS34752.1																																																																																				0.493	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		5	57	1	0	0.00198382	1	0.00210581	5	57				
TINAG	27283	broad.mit.edu	37	6	54208056	54208056	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208056G>A	ENST00000259782.4	+	5	753	c.657G>A	c.(655-657)gaG>gaA	p.E219E		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	219					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTTCCAGAGTTTTTTGTTG	0.393																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(655-657)gaG>gaA		tubulointerstitial nephritis antigen							82.0	81.0	81.0					6																	54208056		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54208056G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.657G>A	6.37:g.54208056G>A							p.E219E	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		5	753	+	Lung NSC(77;0.0518)		219					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.657G>A	CCDS4955.1																																																																																				0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		23	42	0	0	0	1	0	23	42				
CLSTN2	64084	broad.mit.edu	37	3	140123471	140123471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140123471C>T	ENST00000458420.3	+	4	690	c.500C>T	c.(499-501)gCt>gTt	p.A167V	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCCTACAAGGCTGTTGTGACG	0.532										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(499-501)gCt>gTt		calsyntenin 2							131.0	105.0	114.0					3																	140123471		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140123471C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.500C>T	3.37:g.140123471C>T	ENSP00000402460:p.Ala167Val	HNSCC(16;0.037)					p.A167V	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			4	690	+			167			Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.500C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409317	0.83340	.	.	ENSG00000158258	ENST00000458420	T	0.52295	0.67	5.66	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.64997	1.995	0.58432	D	0.999997	D	0.76494	0.999	D	0.72338	0.977	T	0.60424	-0.7266	10	0.30854	T	0.27	-27.2998	12.3651	0.55224	0.0:0.9185:0.0:0.0815	.	167	Q9H4D0	CSTN2_HUMAN	V	167	ENSP00000402460:A167V	ENSP00000402460:A167V	A	+	2	0	CLSTN2	141606161	1.000000	0.71417	0.727000	0.30756	0.915000	0.54546	4.885000	0.63142	1.398000	0.46701	0.563000	0.77884	GCT		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		31	35	0	0	0	1	0	31	35				
PRSS38	339501	broad.mit.edu	37	1	228033778	228033778	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228033778T>G	ENST00000366757.3	+	5	874	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTTCCTATTTCTCAAAATG	0.532																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(850-852)Ttc>Gtc		protease, serine, 38							81.0	79.0	80.0					1																	228033778		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228033778T>G		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.850T>G	1.37:g.228033778T>G	ENSP00000355719:p.Phe284Val						p.F284V	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			5	874	+			284			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.850T>G	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922789	0.52653	.	.	ENSG00000185888	ENST00000366757	T	0.61510	0.1	4.21	4.21	0.49690	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.213174	0.23793	N	0.044509	T	0.60792	0.2296	M	0.68728	2.09	0.09310	N	1	P	0.51537	0.946	P	0.49192	0.602	T	0.55108	-0.8192	10	0.33141	T	0.24	.	11.5518	0.50725	0.0:0.0:0.0:1.0	.	284	A1L453	PRS38_HUMAN	V	284	ENSP00000355719:F284V	ENSP00000355719:F284V	F	+	1	0	PRSS38	226100401	0.478000	0.25917	0.033000	0.17914	0.006000	0.05464	4.358000	0.59442	1.884000	0.54569	0.460000	0.39030	TTC		0.532	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		23	24	0	0	0	1	0	23	24				
FBN3	84467	broad.mit.edu	37	19	8174224	8174224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8174224C>T	ENST00000600128.1	-	36	4919	c.4505G>A	c.(4504-4506)aGt>aAt	p.S1502N	FBN3_ENST00000601739.1_Missense_Mutation_p.S1502N|FBN3_ENST00000270509.2_Missense_Mutation_p.S1502N			Q75N90	FBN3_HUMAN	fibrillin 3	1502	TB 6.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAATGCCACTGTCCCCTCG	0.597																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4504-4506)aGt>aAt		fibrillin 3							111.0	93.0	99.0					19																	8174224		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8174224C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4505G>A	19.37:g.8174224C>T	ENSP00000470498:p.Ser1502Asn					FBN3_ENST00000270509.2_Missense_Mutation_p.S1502N|FBN3_ENST00000601739.1_Missense_Mutation_p.S1502N	p.S1502N			Q75N90	FBN3_HUMAN			36	4919	-			1502			TB 6.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4505G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601873	0.28534	.	.	ENSG00000142449	ENST00000270509	D	0.93859	-3.3	4.12	4.12	0.48240	Matrix fibril-associated (2);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.89539	0.6744	L	0.42245	1.32	0.23598	N	0.997321	B	0.02656	0.0	B	0.04013	0.001	T	0.75422	-0.3323	10	0.17832	T	0.49	.	16.3157	0.82923	0.0:1.0:0.0:0.0	.	1502	Q75N90	FBN3_HUMAN	N	1502	ENSP00000270509:S1502N	ENSP00000270509:S1502N	S	-	2	0	FBN3	8080224	1.000000	0.71417	0.126000	0.21872	0.417000	0.31264	5.511000	0.67024	2.010000	0.58986	0.313000	0.20887	AGT		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		25	45	0	0	0	1	0	25	45				
POLD3	10714	broad.mit.edu	37	11	74329667	74329667	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74329667C>A	ENST00000263681.2	+	6	607	c.478C>A	c.(478-480)Ctt>Att	p.L160I	POLD3_ENST00000532497.1_Missense_Mutation_p.L54I|POLD3_ENST00000527458.1_Missense_Mutation_p.L121I	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	160					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCAGTCACATCTTCACATGTC	0.488																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(478-480)Ctt>Att		polymerase (DNA-directed), delta 3, accessory subunit							112.0	108.0	109.0					11																	74329667		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74329667C>A	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.478C>A	11.37:g.74329667C>A	ENSP00000263681:p.Leu160Ile					POLD3_ENST00000527458.1_Missense_Mutation_p.L121I|POLD3_ENST00000532497.1_Missense_Mutation_p.L54I	p.L160I	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			6	607	+	Breast(11;3.21e-06)		160					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.478C>A	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679400	0.14907	.	.	ENSG00000077514	ENST00000263681;ENST00000527458;ENST00000532497;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.17	3.23	0.37069	.	0.531595	0.19779	N	0.106266	T	0.29126	0.0724	L	0.44542	1.39	0.09310	N	1	B	0.32010	0.351	B	0.26693	0.072	T	0.11084	-1.0602	8	.	.	.	-16.7191	7.2285	0.26028	0.0:0.7377:0.1702:0.0921	.	160	Q15054	DPOD3_HUMAN	I	160;121;54;160;121;121	.	.	L	+	1	0	POLD3	74007315	0.365000	0.25006	0.770000	0.31555	0.719000	0.41307	0.272000	0.18644	1.417000	0.47077	0.591000	0.81541	CTT		0.488	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		13	118	1	0	7.03913e-09	1	8.47891e-09	13	118				
ABCA13	154664	broad.mit.edu	37	7	48634360	48634360	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48634360A>G	ENST00000435803.1	+	58	14719	c.14695A>G	c.(14695-14697)Ata>Gta	p.I4899V	ABCA13_ENST00000544596.1_Missense_Mutation_p.I629V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4899	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGGCAAACAATAATGAAGGA	0.483																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14695-14697)Ata>Gta		ATP-binding cassette, sub-family A (ABC1), member 13							150.0	153.0	152.0					7																	48634360		1982	4159	6141	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48634360A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14695A>G	7.37:g.48634360A>G	ENSP00000411096:p.Ile4899Val					ABCA13_ENST00000544596.1_Missense_Mutation_p.I629V	p.I4899V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			58	14719	+			4899			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14695A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572792	0.28092	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.45668	0.89;0.89;0.89	5.7	2.01	0.26516	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.132627	0.33792	N	0.004560	T	0.42630	0.1211	L	0.54965	1.715	0.18873	N	0.999989	P;P;P	0.52170	0.532;0.951;0.921	B;P;B	0.50934	0.29;0.654;0.277	T	0.31971	-0.9924	10	0.72032	D	0.01	.	5.7175	0.17968	0.7032:0.1434:0.1534:0.0	.	629;2601;4899	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	V	4899;672;629	ENSP00000411096:I4899V;ENSP00000391042:I672V;ENSP00000442634:I629V	ENSP00000391042:I672V	I	+	1	0	ABCA13	48604906	0.994000	0.37717	0.001000	0.08648	0.665000	0.39181	3.331000	0.52075	0.100000	0.17581	-0.371000	0.07208	ATA		0.483	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	145	0	0	0	1	0	5	145				
CTAGE5	4253	broad.mit.edu	37	14	39771384	39771384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39771384G>T	ENST00000280083.3	+	10	1161	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.E203*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.E208*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.E283*|RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.E818*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.E283*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.E288*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.E271*			O15320	CTGE5_HUMAN	CTAGE family, member 5	283					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TATGCTTGGAGAAGACATAAC	0.383																																						ENST00000553728.1																			0											c.(2452-2454)Gaa>Taa									187.0	172.0	177.0					14																	39771384		2203	4300	6503	SO:0001587	stop_gained	0							g.chr14:39771384G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.847G>T	14.37:g.39771384G>T	ENSP00000280083:p.Glu283*					RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.E203*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.E271*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.E208*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.E288*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.E254*	p.E818*							14	2665	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Nonsense_Mutation	SNP	ENST00000280083.3	37	c.2452G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	42	9.308627	0.99132	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	.	.	.	5.78	5.78	0.91487	.	0.252118	0.20777	N	0.085861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7965	0.88574	0.0:0.0:1.0:0.0	.	.	.	.	X	818;271;203;245;254;283;288;283;208;283;254	.	.	E	+	1	0	CTAGE5;RP11-407N17.3	38841135	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.215000	0.72206	2.729000	0.93468	0.650000	0.86243	GAA		0.383	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		10	139	1	0	2.17888e-05	1	2.45068e-05	10	139				
RPS6KA3	6197	broad.mit.edu	37	X	20190905	20190905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20190905T>C	ENST00000379565.3	-	15	1519	c.1312A>G	c.(1312-1314)Aga>Gga	p.R438G	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R409G|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R408G|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R410G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	438	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TGTATACATCTCTTGCAAACA	0.323																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1312-1314)Aga>Gga		ribosomal protein S6 kinase, 90kDa, polypeptide 3							72.0	59.0	63.0					X																	20190905		2201	4295	6496	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20190905T>C	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1312A>G	X.37:g.20190905T>C	ENSP00000368884:p.Arg438Gly					RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R409G|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R410G|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R408G|RPS6KA3_ENST00000479809.1_5'UTR	p.R438G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			15	1519	-			438			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.1312A>G	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121380	0.77436	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.89917	0.985;0.981;1.0;0.985	D;P;D;D	0.97110	0.928;0.882;1.0;0.928	T	0.65290	-0.6204	10	0.72032	D	0.01	.	14.2193	0.65815	0.0:0.0:0.0:1.0	.	409;408;410;438	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	G	438;410;408;409	ENSP00000368884:R438G;ENSP00000440220:R410G;ENSP00000368865:R408G;ENSP00000444837:R409G	ENSP00000368865:R408G	R	-	1	2	RPS6KA3	20100826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.336000	0.59304	1.804000	0.52760	0.486000	0.48141	AGA		0.323	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		5	30	0	0	0	1	0	5	30				
CAPN13	92291	broad.mit.edu	37	2	31010224	31010224	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31010224C>A	ENST00000295055.8	-	2	145		c.e2-1		CAPN13_ENST00000465960.2_Splice_Site|CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGTCCTTTCCTGTTGGTGAG	0.478																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.e2-1		calpain 13							21.0	21.0	21.0					2																	31010224		1937	4159	6096	SO:0001630	splice_region_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:31010224C>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.32-1G>T	2.37:g.31010224C>A						CAPN13_ENST00000465960.2_Splice_Site|CAPN13_ENST00000534090.2_Splice_Site		NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			2	145	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)							Q17RF0|Q580X1|Q8TE80	Splice_Site	SNP	ENST00000295055.8	37		CCDS46252.1																																																																																				0.478	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	Intron	7	8	1	0	8.12818e-05	1	8.99451e-05	7	8				
CELSR2	1952	broad.mit.edu	37	1	109804139	109804139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109804139G>A	ENST00000271332.3	+	4	4247	c.4186G>A	c.(4186-4188)Gcc>Acc	p.A1396T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1396	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTCAGGTTTGCCACAAAGGA	0.602																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4186-4188)Gcc>Acc		cadherin, EGF LAG seven-pass G-type receptor 2							114.0	111.0	112.0					1																	109804139		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109804139G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4186G>A	1.37:g.109804139G>A	ENSP00000271332:p.Ala1396Thr						p.A1396T	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	4	4247	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1396			Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4186G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886522	0.91814	.	.	ENSG00000143126	ENST00000271332	T	0.79247	-1.25	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79263	0.4416	L	0.55990	1.75	0.53005	D	0.999967	P	0.49307	0.922	P	0.58577	0.841	T	0.80504	-0.1353	9	0.56958	D	0.05	.	13.8745	0.63645	0.0754:0.0:0.9246:0.0	.	1396	Q9HCU4	CELR2_HUMAN	T	1396	ENSP00000271332:A1396T	ENSP00000271332:A1396T	A	+	1	0	CELSR2	109605662	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.379000	0.59575	2.598000	0.87819	0.462000	0.41574	GCC		0.602	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		37	93	0	0	0	1	0	37	93				
MAPK13	5603	broad.mit.edu	37	6	36103602	36103602	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36103602C>T	ENST00000211287.4	+	4	643	c.381C>T	c.(379-381)atC>atT	p.I127I	MAPK13_ENST00000373761.6_Silent_p.I127I|MAPK13_ENST00000373766.5_Silent_p.I127I|MAPK13_ENST00000373759.1_Silent_p.I49I|MAPK13_ENST00000490334.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGGAGAAGATCCAGTACCTGG	0.552																																						ENST00000211287.4																			0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						c.(379-381)atC>atT		mitogen-activated protein kinase 13							197.0	158.0	171.0					6																	36103602		2203	4300	6503	SO:0001819	synonymous_variant	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36103602C>T	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.381C>T	6.37:g.36103602C>T						MAPK13_ENST00000373761.6_Silent_p.I127I|MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373766.5_Silent_p.I127I|MAPK13_ENST00000373759.1_Silent_p.I49I	p.I127I	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN			4	643	+			127			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Silent	SNP	ENST00000211287.4	37	c.381C>T	CCDS4818.1																																																																																				0.552	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			30	33	0	0	0	1	0	30	33				
UTRN	7402	broad.mit.edu	37	6	144898291	144898291	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144898291G>A	ENST00000367545.3	+	50	7346	c.7346G>A	c.(7345-7347)cGc>cAc	p.R2449H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2449					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCCTCTCGCAGAGATCTG	0.498																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7345-7347)cGc>cAc		utrophin							112.0	92.0	98.0					6																	144898291		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144898291G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7346G>A	6.37:g.144898291G>A	ENSP00000356515:p.Arg2449His						p.R2449H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	50	7346	+		Ovarian(120;0.218)	2449					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7346G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746664	0.49257	.	.	ENSG00000152818	ENST00000367545	T	0.50001	0.76	6.03	4.09	0.47781	.	0.260739	0.27294	N	0.020033	T	0.11623	0.0283	N	0.14661	0.345	0.41275	D	0.986872	B	0.15141	0.012	B	0.10450	0.005	T	0.11179	-1.0598	10	0.15499	T	0.54	.	7.2552	0.26173	0.1537:0.0:0.6177:0.2286	.	2449	P46939	UTRO_HUMAN	H	2449	ENSP00000356515:R2449H	ENSP00000356515:R2449H	R	+	2	0	UTRN	144939984	0.985000	0.35326	0.676000	0.29932	0.986000	0.74619	3.078000	0.50096	1.558000	0.49541	0.655000	0.94253	CGC		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	36	0	0	0	1	0	4	36				
IPPK	64768	broad.mit.edu	37	9	95400540	95400540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95400540C>T	ENST00000287996.3	-	9	935	c.659G>A	c.(658-660)tGc>tAc	p.C220Y	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	220					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCATCTTTGCAGCCGTAAAT	0.567																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(658-660)tGc>tAc		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							58.0	64.0	62.0					9																	95400540		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95400540C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.659G>A	9.37:g.95400540C>T	ENSP00000287996:p.Cys220Tyr						p.C220Y	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			9	935	-			220					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.659G>A	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275799	0.80580	.	.	ENSG00000127080	ENST00000287996	T	0.29917	1.55	5.24	5.24	0.73138	.	0.127604	0.64402	D	0.000001	T	0.41971	0.1182	L	0.47716	1.5	0.80722	D	1	D	0.53885	0.963	P	0.51487	0.671	T	0.24440	-1.0160	10	0.56958	D	0.05	-11.719	19.2146	0.93770	0.0:1.0:0.0:0.0	.	220	Q9H8X2	IPPK_HUMAN	Y	220	ENSP00000287996:C220Y	ENSP00000287996:C220Y	C	-	2	0	IPPK	94440361	1.000000	0.71417	0.391000	0.26233	0.973000	0.67179	6.077000	0.71275	2.619000	0.88677	0.561000	0.74099	TGC		0.567	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		5	47	0	0	0	1	0	5	47				
TRAF3	7187	broad.mit.edu	37	14	103336624	103336624	+	Missense_Mutation	SNP	C	C	T	rs547180445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103336624C>T	ENST00000560371.1	+	2	303	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TRAF3_ENST00000539721.1_Missense_Mutation_p.T29M|TRAF3_ENST00000347662.4_Missense_Mutation_p.T29M|TRAF3_ENST00000351691.5_Missense_Mutation_p.T29M|TRAF3_ENST00000392745.2_Missense_Mutation_p.T29M	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	29					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T29M(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCTGGGACGCCAGTTTTT	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16751	0.0		0.0	False		,,,				2504	0.0					ENST00000560371.1																			1	Substitution - Missense(1)	p.T29M(1)	lung(1)	breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(85-87)aCg>aTg		TNF receptor-associated factor 3							92.0	86.0	88.0					14																	103336624		2203	4300	6503	SO:0001583	missense	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103336624C>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.86C>T	14.37:g.103336624C>T	ENSP00000454207:p.Thr29Met					TRAF3_ENST00000351691.5_Missense_Mutation_p.T29M|TRAF3_ENST00000539721.1_Missense_Mutation_p.T29M|TRAF3_ENST00000392745.2_Missense_Mutation_p.T29M|TRAF3_ENST00000347662.4_Missense_Mutation_p.T29M	p.T29M	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	2	303	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	29					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.86C>T	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373369	0.24857	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.44083	2.25;2.25;2.25;0.93	4.64	1.27	0.21489	.	0.714234	0.14537	N	0.313483	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	1	P;P;P	0.38642	0.459;0.641;0.533	B;B;B	0.32289	0.143;0.086;0.062	T	0.08086	-1.0739	10	0.52906	T	0.07	-0.7911	11.0009	0.47604	0.0:0.7537:0.0:0.2463	.	29;29;29	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	M	29	ENSP00000376500:T29M;ENSP00000328003:T29M;ENSP00000332468:T29M;ENSP00000445998:T29M	ENSP00000328003:T29M	T	+	2	0	TRAF3	102406377	0.019000	0.18553	0.000000	0.03702	0.001000	0.01503	2.851000	0.48302	0.400000	0.25396	-0.136000	0.14681	ACG		0.527	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		17	26	0	0	0	1	0	17	26				
IGHA1	3493	broad.mit.edu	37	14	106173685	106173685	+	RNA	SNP	C	C	T	rs71423287	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106173685C>T	ENST00000390547.2	-	0	881				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GTATGCTGGTCACAGCGAAGG	0.657													.|||	3	0.000599042	0.0023	0.0	5008	,	,		26878	0.0		0.0	False		,,,				2504	0.0					ENST00000390547.2																			0																				59.0	94.0	82.0					14																	106173685		2119	4255	6374			0							g.chr14:106173685C>T	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173685C>T														0	881	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.657	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		14	59	0	0	0	1	0	14	59				
C5	727	broad.mit.edu	37	9	123722524	123722524	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123722524A>G	ENST00000223642.1	-	38	4708		c.e38+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTTTGAACTCACCATATGCAA	0.323																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.e38+1		complement component 5	Eculizumab(DB01257)						145.0	125.0	132.0					9																	123722524		2203	4300	6503	SO:0001630	splice_region_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123722524A>G	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4678+1T>C	9.37:g.123722524A>G								NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	38	4708	-								Q14CJ0|Q27I61	Splice_Site	SNP	ENST00000223642.1	37		CCDS6826.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.864242	0.71949	.	.	ENSG00000106804	ENST00000223642	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7444	0.57273	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5	122762345	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.186000	0.65082	2.255000	0.74692	0.533000	0.62120	.		0.323	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	Intron	6	35	0	0	0	1	0	6	35				
SORCS3	22986	broad.mit.edu	37	10	106849576	106849576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106849576G>A	ENST00000369701.3	+	6	1299	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	358					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGCACATGGAGGTGCGGAC	0.557																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1072-1074)Gag>Aag		sortilin-related VPS10 domain containing receptor 3							108.0	93.0	98.0					10																	106849576		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106849576G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1072G>A	10.37:g.106849576G>A	ENSP00000358715:p.Glu358Lys						p.E358K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	6	1299	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	358					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1072G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955885	0.92726	.	.	ENSG00000156395	ENST00000369701	T	0.50548	0.74	6.17	6.17	0.99709	VPS10 (1);	0.052514	0.85682	D	0.000000	T	0.71576	0.3356	M	0.83483	2.645	0.50313	D	0.999866	D	0.89917	1.0	D	0.75020	0.985	T	0.74156	-0.3756	10	0.87932	D	0	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	358	Q9UPU3	SORC3_HUMAN	K	358	ENSP00000358715:E358K	ENSP00000358715:E358K	E	+	1	0	SORCS3	106839566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.903000	0.69877	2.941000	0.99782	0.655000	0.94253	GAG		0.557	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	21	0	0	0	1	0	9	21				
WDR63	126820	broad.mit.edu	37	1	85547045	85547045	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85547045C>A	ENST00000294664.6	+	4	412	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	WDR63_ENST00000370596.1_Missense_Mutation_p.L78M|WDR63_ENST00000326813.8_Missense_Mutation_p.L78M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	78										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTGAGGACCTGCGCAACAG	0.383																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(232-234)Ctg>Atg		WD repeat domain 63							106.0	107.0	106.0					1																	85547045		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85547045C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.232C>A	1.37:g.85547045C>A	ENSP00000294664:p.Leu78Met					WDR63_ENST00000370596.1_Missense_Mutation_p.L78M|WDR63_ENST00000326813.8_Missense_Mutation_p.L78M	p.L78M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	4	412	+			78					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.232C>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	2.255	-0.370663	0.05069	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.63	0.417	0.16421	.	0.461717	0.21732	N	0.069951	T	0.08582	0.0213	N	0.19112	0.55	0.40128	D	0.976682	B;B	0.27656	0.184;0.115	B;B	0.24974	0.057;0.043	T	0.10989	-1.0606	10	0.25106	T	0.35	-19.1064	3.7037	0.08392	0.4047:0.3103:0.0:0.285	.	78;78	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	M	78;78;78;65	ENSP00000359628:L78M;ENSP00000317463:L78M;ENSP00000294664:L78M;ENSP00000435102:L65M	ENSP00000294664:L78M	L	+	1	2	WDR63	85319633	1.000000	0.71417	0.090000	0.20809	0.019000	0.09904	1.039000	0.30266	0.093000	0.17368	-1.107000	0.02091	CTG		0.383	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		49	105	1	0	2.84144e-21	1	3.73721e-21	49	105				
TOP2A	7153	broad.mit.edu	37	17	38563914	38563914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38563914C>T	ENST00000423485.1	-	13	1671	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	505	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTAATCTCAGCATTTTCCATG	0.303																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1513-1515)Gct>Act		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						67.0	55.0	58.0					17																	38563914		1818	4076	5894	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38563914C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1513G>A	17.37:g.38563914C>T	ENSP00000411532:p.Ala505Thr						p.A505T	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		13	1671	-		Breast(137;0.00328)	505					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1513G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652526	0.88056	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25579	1.79	5.82	5.82	0.92795	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	L	0.60845	1.875	0.80722	D	1	B	0.29909	0.261	B	0.39152	0.292	T	0.13522	-1.0506	10	0.59425	D	0.04	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	505	P11388	TOP2A_HUMAN	T	505;585;528;541	ENSP00000411532:A505T	ENSP00000269577:A585T	A	-	1	0	TOP2A	35817440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	GCT		0.303	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			7	12	0	0	0	1	0	7	12				
ZNF547	284306	broad.mit.edu	37	19	57888581	57888581	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888581C>A	ENST00000282282.3	+	4	387	c.237C>A	c.(235-237)ccC>ccA	p.P79P	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAAAGCCCTGTCTATCTA	0.517																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(235-237)ccC>ccA		zinc finger protein 547							117.0	90.0	99.0					19																	57888581		2203	4300	6503	SO:0001819	synonymous_variant	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57888581C>A	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.237C>A	19.37:g.57888581C>A						AC003002.4_ENST00000597658.1_Intron	p.P79P	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	387	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	79			KRAB.		A8K5Z9|Q96NC4	Silent	SNP	ENST00000282282.3	37	c.237C>A	CCDS33131.1																																																																																				0.517	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		4	49	1	0	0.00909568	1	0.00947522	4	49				
TRPV2	51393	broad.mit.edu	37	17	16335329	16335329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16335329C>T	ENST00000338560.7	+	12	2103	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Silent_p.G138G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	568					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCTACAGGCCCCAATGCCA	0.647																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1702-1704)ggC>ggT		transient receptor potential cation channel, subfamily V, member 2							47.0	47.0	47.0					17																	16335329		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335329C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1704C>T	17.37:g.16335329C>T						TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Silent_p.G138G	p.G568G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2103	+			568					A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.1704C>T	CCDS32576.1																																																																																				0.647	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		17	25	0	0	0	1	0	17	25				
TRIM47	91107	broad.mit.edu	37	17	73871043	73871043	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73871043C>A	ENST00000254816.2	-	6	1464	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	TRIM47_ENST00000587339.1_Missense_Mutation_p.G242C|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	480	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTAGGTGCCTCGGTCCAGG	0.622																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1438-1440)Ggc>Tgc		tripartite motif containing 47							66.0	61.0	63.0					17																	73871043		2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73871043C>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1438G>T	17.37:g.73871043C>A	ENSP00000254816:p.Gly480Cys					TRIM47_ENST00000587339.1_Missense_Mutation_p.G242C	p.G480C	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1464	-			480			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1438G>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164600	0.78339	.	.	ENSG00000132481	ENST00000254816	D	0.87412	-2.25	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	D	0.94282	0.8163	M	0.85542	2.76	0.47994	D	0.999564	D	0.89917	1.0	D	0.97110	1.0	D	0.95031	0.8169	10	0.87932	D	0	.	18.6798	0.91543	0.0:1.0:0.0:0.0	.	480	Q96LD4	TRI47_HUMAN	C	480	ENSP00000254816:G480C	ENSP00000254816:G480C	G	-	1	0	TRIM47	71382638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.125000	0.64715	2.426000	0.82243	0.561000	0.74099	GGC		0.622	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			4	34	1	0	0.150653	1	0.152692	4	34				
NOL4	8715	broad.mit.edu	37	18	31685089	31685089	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(448-450)gcG>gcA		nucleolar protein 4							175.0	163.0	167.0					18																	31685089		2203	4299	6502	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31685089C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.450G>A	18.37:g.31685089C>T						NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000269185.4_Silent_p.A36A	p.A150A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			3	747	-			150					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.450G>A	CCDS11907.2																																																																																				0.393	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		37	66	0	0	0	1	0	37	66				
CCDC30	728621	broad.mit.edu	37	1	43076716	43076716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43076716G>A	ENST00000340612.4	+	9	1451	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	CCDC30_ENST00000342022.4_Missense_Mutation_p.R484H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R273H|CCDC30_ENST00000428554.2_Missense_Mutation_p.R484H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R273H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	484						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAAGCTCTACGTGAAGAATAT	0.358																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1450-1452)cGt>cAt		coiled-coil domain containing 30							124.0	115.0	118.0					1																	43076716		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43076716G>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1451G>A	1.37:g.43076716G>A	ENSP00000340378:p.Arg484His					CCDC30_ENST00000340612.4_Missense_Mutation_p.R484H|CCDC30_ENST00000342022.4_Missense_Mutation_p.R484H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R273H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R273H	p.R484H			Q5VVM6	CCD30_HUMAN			17	2594	+			484					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1451G>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	0.560	-0.845805	0.02671	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.68	-6.11	0.02131	.	1.332010	0.04640	N	0.405200	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.21348	-1.0248	10	0.15499	T	0.54	.	8.9933	0.36037	0.6329:0.0:0.2556:0.1114	.	484;273	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	H	484;273;484;484;273	ENSP00000397035:R484H;ENSP00000426711:R273H;ENSP00000340378:R484H;ENSP00000339280:R484H;ENSP00000375051:R273H	ENSP00000340378:R484H	R	+	2	0	CCDC30	42849303	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.186000	0.09670	-1.098000	0.03038	-1.012000	0.02466	CGT		0.358	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		20	49	0	0	0	1	0	20	49				
PRMT2	3275	broad.mit.edu	37	21	48063522	48063522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48063522G>A	ENST00000397637.1	+	3	1069	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	PRMT2_ENST00000397628.1_Missense_Mutation_p.A39T|PRMT2_ENST00000458387.2_Missense_Mutation_p.A39T|PRMT2_ENST00000451211.2_Missense_Mutation_p.A39T|PRMT2_ENST00000397638.2_Missense_Mutation_p.A39T|PRMT2_ENST00000440086.1_Missense_Mutation_p.A39T|PRMT2_ENST00000334494.4_Missense_Mutation_p.A39T|PRMT2_ENST00000355680.3_Missense_Mutation_p.A39T|PRMT2_ENST00000291705.6_Missense_Mutation_p.A39T			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	39	Interaction with ESR1.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGTGGCCATCGCGGACTACGC	0.537																																						ENST00000397637.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(115-117)Gcg>Acg		protein arginine methyltransferase 2							73.0	64.0	67.0					21																	48063522		2203	4300	6503	SO:0001583	missense	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48063522G>A	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.115G>A	21.37:g.48063522G>A	ENSP00000380759:p.Ala39Thr					PRMT2_ENST00000451211.2_Missense_Mutation_p.A39T|PRMT2_ENST00000397628.1_Missense_Mutation_p.A39T|PRMT2_ENST00000458387.2_Missense_Mutation_p.A39T|PRMT2_ENST00000291705.6_Missense_Mutation_p.A39T|PRMT2_ENST00000355680.3_Missense_Mutation_p.A39T|PRMT2_ENST00000440086.1_Missense_Mutation_p.A39T|PRMT2_ENST00000334494.4_Missense_Mutation_p.A39T|PRMT2_ENST00000397638.2_Missense_Mutation_p.A39T	p.A39T			P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	3	1069	+	Breast(49;0.247)	Lung NSC(3;0.245)	39			SH3.		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	c.115G>A	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736101	0.69189	.	.	ENSG00000160310	ENST00000355680;ENST00000397638;ENST00000458387;ENST00000451211;ENST00000291705;ENST00000397637;ENST00000334494;ENST00000397628;ENST00000440086	T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.18	4.3	0.51218	Src homology-3 domain (5);	0.483083	0.21935	N	0.066971	T	0.48169	0.1485	N	0.14661	0.345	0.36695	D	0.879786	D;D;D;D;D	0.89917	0.994;0.994;1.0;1.0;0.988	P;P;D;D;P	0.85130	0.657;0.64;0.997;0.995;0.488	T	0.53535	-0.8425	10	0.33940	T	0.23	-21.0032	10.2105	0.43138	0.093:0.0:0.907:0.0	.	39;39;39;39;39	B7U632;B7U630;B7U631;Q498Y5;P55345	.;.;.;.;ANM2_HUMAN	T	39	ENSP00000347906:A39T;ENSP00000380760:A39T;ENSP00000407463:A39T;ENSP00000411984:A39T;ENSP00000291705:A39T;ENSP00000380759:A39T;ENSP00000335490:A39T;ENSP00000380752:A39T;ENSP00000397266:A39T	ENSP00000291705:A39T	A	+	1	0	PRMT2	46887950	0.849000	0.29639	0.969000	0.41365	0.760000	0.43138	3.636000	0.54317	1.318000	0.45170	0.591000	0.81541	GCG		0.537	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		36	51	0	0	0	1	0	36	51				
NLK	51701	broad.mit.edu	37	17	26518101	26518101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26518101C>T	ENST00000407008.3	+	9	2009	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	431	Required for homodimerization and kinase activation and localization to the nucleus. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R431*(1)|p.R419*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423																																						ENST00000407008.3																			2	Substitution - Nonsense(2)	p.R431*(1)|p.R419*(1)	lung(2)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(1291-1293)Cga>Tga		nemo-like kinase							188.0	148.0	161.0					17																	26518101		2203	4300	6503	SO:0001587	stop_gained	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26518101C>T	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1291C>T	17.37:g.26518101C>T	ENSP00000384625:p.Arg431*						p.R431*	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	9	2009	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		431					B2RCX1|Q2PNI9|Q6P2A3	Nonsense_Mutation	SNP	ENST00000407008.3	37	c.1291C>T	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	C	37	6.288810	0.97444	.	.	ENSG00000087095	ENST00000407008	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7044	19.3813	0.94536	0.0:1.0:0.0:0.0	.	.	.	.	X	431	.	ENSP00000384625:R431X	R	+	1	2	NLK	23542228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.547000	0.67249	2.824000	0.97209	0.655000	0.94253	CGA		0.423	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		25	49	0	0	0	1	0	25	49				
ZNF512	84450	broad.mit.edu	37	2	27844111	27844111	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27844111A>G	ENST00000355467.4	+	14	1570	c.1487A>G	c.(1486-1488)cAg>cGg	p.Q496R	ZNF512_ENST00000556601.1_Missense_Mutation_p.Q365R|ZNF512_ENST00000379717.1_Missense_Mutation_p.Q495R|ZNF512_ENST00000413371.2_Missense_Mutation_p.Q419R|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Missense_Mutation_p.Q467R	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AAGCGGAGGCAGCAGCACAGG	0.512																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1486-1488)cAg>cGg		zinc finger protein 512							86.0	81.0	83.0					2																	27844111		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27844111A>G	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1487A>G	2.37:g.27844111A>G	ENSP00000347648:p.Gln496Arg					ZNF512_ENST00000556601.1_Missense_Mutation_p.Q365R|ZNF512_ENST00000379717.1_Missense_Mutation_p.Q495R|ZNF512_ENST00000416005.2_Missense_Mutation_p.Q467R|ZNF512_ENST00000413371.2_Missense_Mutation_p.Q419R|RP11-158I13.2_ENST00000505973.1_RNA	p.Q496R			Q96ME7	ZN512_HUMAN			14	1570	+	Acute lymphoblastic leukemia(172;0.155)		496					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.1487A>G	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402598	0.42613	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.43	5.43	0.79202	.	0.457119	0.24801	N	0.035500	T	0.44685	0.1305	N	0.08118	0	0.33653	D	0.608697	D;D;D	0.54601	0.967;0.967;0.967	P;P;P	0.62382	0.901;0.901;0.901	T	0.58595	-0.7609	9	0.41790	T	0.15	-11.5232	12.1488	0.54038	1.0:0.0:0.0:0.0	.	391;467;496	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	R	495;496;365;467;419	.	ENSP00000347648:Q496R	Q	+	2	0	ZNF512	27697615	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.741000	0.55090	2.186000	0.69663	0.533000	0.62120	CAG		0.512	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		16	60	0	0	0	1	0	16	60				
OSER1	51526	broad.mit.edu	37	20	42826274	42826274	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42826274C>T	ENST00000372970.2	-	6	477	c.297G>A	c.(295-297)gcG>gcA	p.A99A	OSER1_ENST00000255174.2_Silent_p.A99A			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	99					cellular response to hydrogen peroxide (GO:0070301)												TGGAAGAAGACGCTATTGTAC	0.493																																						ENST00000372970.2																			0											c.(295-297)gcG>gcA		oxidative stress responsive serine-rich 1							96.0	93.0	94.0					20																	42826274		2203	4300	6503	SO:0001819	synonymous_variant	51526							g.chr20:42826274C>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.297G>A	20.37:g.42826274C>T						OSER1_ENST00000255174.2_Silent_p.A99A	p.A99A							6	477	-								B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	c.297G>A	CCDS13327.1																																																																																				0.493	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		29	49	0	0	0	1	0	29	49				
TGFBR1	7046	broad.mit.edu	37	9	101894964	101894964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101894964G>T	ENST00000374994.4	+	3	634	c.517G>T	c.(517-519)Gag>Tag	p.E173*	TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.E104*|TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.E177*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	173					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTTATTTCAGAGGGTACTAC	0.398																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(517-519)Gag>Tag		transforming growth factor, beta receptor 1							121.0	106.0	111.0					9																	101894964		2203	4300	6503	SO:0001587	stop_gained	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101894964G>T		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.517G>T	9.37:g.101894964G>T	ENSP00000364133:p.Glu173*					TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.E177*|TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.E104*	p.E173*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			3	634	+		Acute lymphoblastic leukemia(62;0.0559)	173					Q6IR47|Q706C0|Q706C1	Nonsense_Mutation	SNP	ENST00000374994.4	37	c.517G>T	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	36	5.721678	0.96839	.	.	ENSG00000106799	ENST00000547314;ENST00000552573;ENST00000374994;ENST00000540092;ENST00000552516;ENST00000548365;ENST00000550253;ENST00000546584	.	.	.	6.02	6.02	0.97574	.	0.139083	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.3122	0.94192	0.0:0.0:1.0:0.0	.	.	.	.	X	104;108;173;173;177;108;104;170	.	ENSP00000364133:E173X	E	+	1	0	TGFBR1	100934785	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.549000	0.73900	2.865000	0.98341	0.655000	0.94253	GAG		0.398	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			5	112	1	0	3.59834e-05	1	4.01776e-05	5	112				
NT5M	56953	broad.mit.edu	37	17	17250164	17250164	+	Missense_Mutation	SNP	G	G	A	rs551087061		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17250164G>A	ENST00000389022.4	+	5	806	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	197					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCACCGCCTGCCACAACCAG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		13876	0.0		0.0	False		,,,				2504	0.001					ENST00000389022.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(589-591)tGc>tAc		5',3'-nucleotidase, mitochondrial							34.0	39.0	38.0					17																	17250164		2203	4299	6502	SO:0001583	missense	56953				DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	g.chr17:17250164G>A	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"""5' nucleotidase, mitochondrial"""			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.590G>A	17.37:g.17250164G>A	ENSP00000373674:p.Cys197Tyr					NT5M_ENST00000582909.1_3'UTR	p.C197Y	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN			5	806	+			197						Missense_Mutation	SNP	ENST00000389022.4	37	c.590G>A	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.061092|4.061092	0.76074|0.76074	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000446264|ENST00000389022	.|T	.|0.48201	.|0.82	5.79|5.79	4.82|4.82	0.62117|0.62117	.|HAD-like domain (2);	0.676236|.	0.15654|.	N|.	0.251246|.	T|T	0.57975|0.57975	0.2090|0.2090	L|L	0.49126|0.49126	1.545|1.545	0.29773|0.29773	N|N	0.83464|0.83464	P|P;P	0.38195|0.46621	0.622|0.881;0.881	B|P;P	0.30572|0.56088	0.117|0.791;0.791	T|T	0.57740|0.57740	-0.7759|-0.7759	9|9	0.72032|0.48119	D|T	0.01|0.1	-20.6888|-20.6888	13.7774|13.7774	0.63062|0.63062	0.0745:0.0:0.9255:0.0|0.0745:0.0:0.9255:0.0	.|.	196|203;197	F6S3X3|Q2I378;Q9NPB1	.|.;NT5M_HUMAN	T|Y	196|197	.|ENSP00000373674:C197Y	ENSP00000390695:A196T|ENSP00000373674:C197Y	A|C	+|+	1|2	0|0	NT5M|NT5M	17190889|17190889	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.873000|0.873000	0.50193|0.50193	8.738000|8.738000	0.91569|0.91569	1.446000|1.446000	0.47643|0.47643	-0.291000|-0.291000	0.09656|0.09656	GCC|TGC		0.682	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			4	23	0	0	0	1	0	4	23				
DPF2	5977	broad.mit.edu	37	11	65109026	65109026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65109026C>T	ENST00000528416.1	+	4	591	c.458C>T	c.(457-459)gCg>gTg	p.A153V	DPF2_ENST00000415073.2_Missense_Mutation_p.A153V|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.A153V	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	153					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AACAGTCGAGCGCGAAAGGTA	0.562																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(457-459)gCg>gTg		D4, zinc and double PHD fingers family 2							72.0	65.0	67.0					11																	65109026		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65109026C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.458C>T	11.37:g.65109026C>T	ENSP00000436901:p.Ala153Val					DPF2_ENST00000252268.4_Missense_Mutation_p.A153V|DPF2_ENST00000415073.2_Missense_Mutation_p.A153V|DPF2_ENST00000532264.1_3'UTR	p.A153V	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			4	591	+			153					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.458C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804526	0.31869	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.89415	-2.49;-1.86;-2.51	5.31	5.31	0.75309	.	0.000000	0.37483	N	0.002079	T	0.74535	0.3729	N	0.03281	-0.365	0.43673	D	0.996101	B;B	0.33288	0.406;0.0	B;B	0.24155	0.051;0.0	T	0.75434	-0.3319	10	0.27785	T	0.31	-9.3513	16.4845	0.84181	0.0:1.0:0.0:0.0	.	153;153	B4DT58;Q92785	.;REQU_HUMAN	V	153	ENSP00000436901:A153V;ENSP00000399714:A153V;ENSP00000252268:A153V	ENSP00000252268:A153V	A	+	2	0	DPF2	64865602	0.988000	0.35896	0.998000	0.56505	0.426000	0.31534	2.804000	0.47931	2.507000	0.84556	0.467000	0.42956	GCG		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		9	23	0	0	0	1	0	9	23				
PTK2	5747	broad.mit.edu	37	8	141711023	141711023	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141711023A>G	ENST00000522684.1	-	26	2695	c.2466T>C	c.(2464-2466)gaT>gaC	p.D822D	PTK2_ENST00000535192.1_Silent_p.D776D|PTK2_ENST00000519465.1_Silent_p.D450D|PTK2_ENST00000538769.1_Silent_p.D490D|PTK2_ENST00000340930.3_Silent_p.D822D|PTK2_ENST00000395218.2_Silent_p.D822D|PTK2_ENST00000519419.1_Silent_p.D866D|PTK2_ENST00000517887.1_Silent_p.D866D|PTK2_ENST00000430260.2_Silent_p.D132D|PTK2_ENST00000521059.1_Silent_p.D822D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	822	Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCCAGCGCTGATCTTCTTCCA	0.438																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2464-2466)gaT>gaC		protein tyrosine kinase 2							125.0	122.0	123.0					8																	141711023		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141711023A>G	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2466T>C	8.37:g.141711023A>G						PTK2_ENST00000340930.3_Silent_p.D822D|PTK2_ENST00000430260.2_Silent_p.D132D|PTK2_ENST00000519419.1_Silent_p.D866D|PTK2_ENST00000521059.1_Silent_p.D822D|PTK2_ENST00000535192.1_Silent_p.D776D|PTK2_ENST00000517887.1_Silent_p.D866D|PTK2_ENST00000395218.2_Silent_p.D822D|PTK2_ENST00000538769.1_Silent_p.D490D|PTK2_ENST00000519465.1_Silent_p.D450D	p.D822D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		26	2695	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	822			Interaction with TGFB1I1.		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.2466T>C	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.586771	0.28268	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.91	-2.3	0.06785	.	.	.	.	.	T	0.62841	0.2461	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59456	-0.7451	4	.	.	.	.	12.6387	0.56696	0.6306:0.0:0.3694:0.0	.	.	.	.	P	787	.	.	S	-	1	0	PTK2	141780205	0.975000	0.34042	0.976000	0.42696	0.999000	0.98932	0.090000	0.15025	-0.576000	0.05974	0.533000	0.62120	TCA		0.438	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		31	58	0	0	0	1	0	31	58				
GPR98	84059	broad.mit.edu	37	5	89939703	89939703	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89939703G>T	ENST00000405460.2	+	14	2733	c.2637G>T	c.(2635-2637)acG>acT	p.T879T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	879	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAATATAACGATTCTGAAAA	0.403																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2635-2637)acG>acT		G protein-coupled receptor 98							105.0	101.0	102.0					5																	89939703		1909	4125	6034	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89939703G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2637G>T	5.37:g.89939703G>T							p.T879T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	14	2733	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	879					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.2637G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	1.155	-0.645529	0.03531	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49688	-0.8913	4	.	.	.	.	5.4246	0.16419	0.5115:0.2994:0.102:0.0871	.	.	.	.	Y	468	.	.	D	+	1	0	GPR98	89975459	0.000000	0.05858	0.199000	0.23439	0.215000	0.24574	-2.266000	0.01171	-2.569000	0.00469	-1.095000	0.02154	GAT		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	12	1	0	3.09899e-07	1	3.63227e-07	8	12				
CHEK1	1111	broad.mit.edu	37	11	125497521	125497521	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125497521A>G	ENST00000534070.1	+	3	340	c.85A>G	c.(85-87)Aga>Gga	p.R29G	CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000438015.1_Missense_Mutation_p.R29G|CHEK1_ENST00000278916.3_Missense_Mutation_p.R29G|CHEK1_ENST00000428830.2_Missense_Mutation_p.R29G|CHEK1_ENST00000524737.1_Missense_Mutation_p.R29G|CHEK1_ENST00000544373.1_Missense_Mutation_p.R29G|CHEK1_ENST00000427383.2_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	29	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGCTGTGAATAGAGTAACTGA	0.338								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(85-87)Aga>Gga	Other conserved DNA damage response genes	checkpoint kinase 1							45.0	49.0	47.0					11																	125497521		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125497521A>G	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.85A>G	11.37:g.125497521A>G	ENSP00000435371:p.Arg29Gly					CHEK1_ENST00000438015.1_Missense_Mutation_p.R29G|CHEK1_ENST00000278916.3_Missense_Mutation_p.R29G|CHEK1_ENST00000524737.1_Missense_Mutation_p.R29G|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000428830.2_Missense_Mutation_p.R29G|CHEK1_ENST00000544373.1_Missense_Mutation_p.R29G|CHEK1_ENST00000532449.1_Intron	p.R29G	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	3	340	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	29			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.85A>G	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430198	0.62844	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000533778;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.32	2.87	0.33458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048569	0.85682	D	0.000000	T	0.67813	0.2933	M	0.64404	1.975	0.58432	D	0.999993	P;P;P	0.52061	0.938;0.95;0.95	P;P;P	0.48598	0.447;0.583;0.583	T	0.64989	-0.6277	10	0.32370	T	0.25	.	13.3304	0.60483	0.477:0.523:0.0:0.0	.	29;29;29	F5H7S4;B5BTY6;O14757	.;.;CHK1_HUMAN	G	29	ENSP00000388648:R29G;ENSP00000434141:R29G;ENSP00000412504:R29G;ENSP00000442317:R29G;ENSP00000431525:R29G;ENSP00000431815:R29G;ENSP00000432470:R29G;ENSP00000433103:R29G;ENSP00000435371:R29G;ENSP00000432890:R29G;ENSP00000278916:R29G	ENSP00000278916:R29G	R	+	1	2	CHEK1	125002731	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	2.730000	0.47335	0.373000	0.24621	-0.449000	0.05564	AGA		0.338	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		6	48	0	0	0	1	0	6	48				
DNAH9	1770	broad.mit.edu	37	17	11550472	11550472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11550472G>A	ENST00000262442.4	+	12	2122	c.2054G>A	c.(2053-2055)cGt>cAt	p.R685H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R685H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	685	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R685H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTCTAAAACGTGACCCAGAG	0.458																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.R685H(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2053-2055)cGt>cAt		dynein, axonemal, heavy chain 9							178.0	165.0	170.0					17																	11550472		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11550472G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2054G>A	17.37:g.11550472G>A	ENSP00000262442:p.Arg685His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R685H	p.R685H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	12	2122	+		Breast(5;0.0122)|all_epithelial(5;0.131)	685			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2054G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370514	0.61624	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57107	0.42;0.42	5.24	4.25	0.50352	Dynein heavy chain, domain-1 (1);	2.209180	0.02189	N	0.061209	T	0.56819	0.2011	L	0.60904	1.88	0.80722	D	1	P	0.39940	0.696	B	0.37989	0.262	T	0.54070	-0.8348	10	0.45353	T	0.12	.	14.7161	0.69269	0.0735:0.0:0.9264:0.0	.	685	Q9NYC9	DYH9_HUMAN	H	685	ENSP00000262442:R685H;ENSP00000414874:R685H	ENSP00000262442:R685H	R	+	2	0	DNAH9	11491197	1.000000	0.71417	0.972000	0.41901	0.946000	0.59487	5.547000	0.67249	2.609000	0.88269	0.655000	0.94253	CGT		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	108	0	0	0	1	0	5	108				
RNF213	57674	broad.mit.edu	37	17	78319744	78319744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78319744C>T	ENST00000582970.1	+	29	7752	c.7609C>T	c.(7609-7611)Cgt>Tgt	p.R2537C	RNF213_ENST00000336301.6_Missense_Mutation_p.R610C|RNF213_ENST00000508628.2_Missense_Mutation_p.R2586C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2537					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGATCTGCCGTTTGGAGTC	0.562																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7609-7611)Cgt>Tgt		ring finger protein 213							84.0	81.0	82.0					17																	78319744		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319744C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7609C>T	17.37:g.78319744C>T	ENSP00000464087:p.Arg2537Cys					RNF213_ENST00000336301.6_Missense_Mutation_p.R610C|RNF213_ENST00000508628.2_Missense_Mutation_p.R2586C	p.R2537C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7752	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7609C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	4.229	0.041391	0.08196	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25085	1.82	5.13	4.17	0.49024	ATPase, AAA+ type, core (1);	0.063927	0.64402	N	0.000010	T	0.52789	0.1756	M	0.82517	2.595	0.49051	D	0.99974	D	0.76494	0.999	D	0.74023	0.982	T	0.61113	-0.7128	10	0.87932	D	0	.	13.6905	0.62542	0.0:0.9258:0.0:0.0742	.	610	Q63HN8	RN213_HUMAN	C	2537;2586;610	ENSP00000338218:R610C	ENSP00000338218:R610C	R	+	1	0	RNF213	75934339	1.000000	0.71417	0.155000	0.22561	0.041000	0.13682	4.675000	0.61619	1.382000	0.46385	0.655000	0.94253	CGT		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		20	42	0	0	0	1	0	20	42				
NDUFB11	54539	broad.mit.edu	37	X	47002075	47002075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47002075G>T	ENST00000377811.3	-	2	1100	c.276C>A	c.(274-276)ttC>ttA	p.F92L	NDUFB11_ENST00000276062.8_Missense_Mutation_p.F92L|RBM10_ENST00000377604.3_5'Flank|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000345781.6_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	92					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						AGACGCCAAAGAAGAAGACAA	0.537																																					Ovarian(77;454 1296 7908 21551 37072)	ENST00000377811.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(274-276)ttC>ttA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa							182.0	143.0	156.0					X																	47002075		2203	4300	6503	SO:0001583	missense	54539				respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		g.chrX:47002075G>T	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.276C>A	X.37:g.47002075G>T	ENSP00000367042:p.Phe92Leu					NDUFB11_ENST00000276062.8_Missense_Mutation_p.F92L	p.F92L	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN			2	1100	-			92					Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	ENST00000377811.3	37	c.276C>A	CCDS48100.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.305404	0.40795	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.12	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.73430	2.235	0.43756	D	0.996268	D;D	0.52996	0.957;0.957	P;P	0.50825	0.651;0.622	T	0.64428	-0.6410	9	0.72032	D	0.01	-19.9054	7.5645	0.27870	0.1291:0.0:0.8709:0.0	.	92;92	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	L	92;96;92	.	ENSP00000276062:F92L	F	-	3	2	NDUFB11	46887019	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	3.279000	0.51670	0.844000	0.35094	0.538000	0.68166	TTC		0.537	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056		6	59	1	0	1.6384e-10	1	2.02096e-10	6	59				
GSTCD	79807	broad.mit.edu	37	4	106640343	106640343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106640343G>A	ENST00000515279.1	+	3	773	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GSTCD_ENST00000394730.3_Missense_Mutation_p.E98K|GSTCD_ENST00000507281.1_Missense_Mutation_p.E98K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.E185K|GSTCD_ENST00000394728.3_Missense_Mutation_p.E185K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	185	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAGCTTAGTGAGCCTGTTAG	0.453																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(553-555)Gag>Aag		glutathione S-transferase, C-terminal domain containing							108.0	117.0	114.0					4																	106640343		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640343G>A	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.553G>A	4.37:g.106640343G>A	ENSP00000422354:p.Glu185Lys					GSTCD_ENST00000507281.1_Missense_Mutation_p.E98K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.E185K|GSTCD_ENST00000394730.3_Missense_Mutation_p.E98K|GSTCD_ENST00000360505.5_Missense_Mutation_p.E185K	p.E185K			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	773	+		Hepatocellular(203;0.217)	185			GST C-terminal.		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.553G>A	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389752	0.95988	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	5.17	0.71159	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.104475	0.64402	D	0.000004	T	0.78381	0.4274	M	0.73962	2.25	0.80722	D	1	D;D	0.62365	0.991;0.966	D;P	0.64506	0.926;0.794	T	0.78550	-0.2161	9	0.48119	T	0.1	-1.6532	18.8657	0.92292	0.0:0.0:1.0:0.0	.	98;185	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	K	98;98;185;185;185	.	ENSP00000353695:E185K	E	+	1	0	GSTCD	106859792	1.000000	0.71417	0.947000	0.38551	0.986000	0.74619	8.880000	0.92407	2.684000	0.91462	0.650000	0.86243	GAG		0.453	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		50	81	0	0	0	1	0	50	81				
LPIN2	9663	broad.mit.edu	37	18	2940711	2940711	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2940711C>A	ENST00000261596.4	-	5	829		c.e5-1			NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGAAGATCCTCTGTGAAGGAG	0.408																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.e5-1		lipin 2							44.0	44.0	44.0					18																	2940711		2203	4300	6503	SO:0001630	splice_region_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2940711C>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.591-1G>T	18.37:g.2940711C>A								NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	5	829	-								A7MD25|D3DUH3	Splice_Site	SNP	ENST00000261596.4	37		CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534442	0.64972	.	.	ENSG00000101577	ENST00000261596;ENST00000455369	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4693	0.94956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPIN2	2930711	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.110000	0.64622	2.603000	0.88011	0.644000	0.83932	.		0.408	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	Intron	10	31	1	0	7.48243e-07	1	8.70085e-07	10	31				
LTBP1	4052	broad.mit.edu	37	2	33623537	33623537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33623537G>A	ENST00000404816.2	+	34	5444	c.5091G>A	c.(5089-5091)gtG>gtA	p.V1697V	LTBP1_ENST00000407925.1_Silent_p.V1371V|LTBP1_ENST00000418533.2_Silent_p.V1329V|LTBP1_ENST00000272273.5_Silent_p.V595V|LTBP1_ENST00000404525.1_Silent_p.V1318V|LTBP1_ENST00000354476.3_Silent_p.V1698V|LTBP1_ENST00000390003.4_Silent_p.V1372V|LTBP1_ENST00000402934.1_Silent_p.V1316V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1697	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGCTACGTGCCTTCTGACA	0.463																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(5089-5091)gtG>gtA		latent transforming growth factor beta binding protein 1							150.0	113.0	126.0					2																	33623537		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33623537G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.5091G>A	2.37:g.33623537G>A						LTBP1_ENST00000402934.1_Silent_p.V1316V|LTBP1_ENST00000404525.1_Silent_p.V1318V|LTBP1_ENST00000354476.3_Silent_p.V1698V|LTBP1_ENST00000272273.5_Silent_p.V595V|LTBP1_ENST00000390003.4_Silent_p.V1372V|LTBP1_ENST00000407925.1_Silent_p.V1371V|LTBP1_ENST00000418533.2_Silent_p.V1329V	p.V1697V			Q14766	LTBP1_HUMAN			34	5444	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1697			EGF-like 18; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.5091G>A	CCDS33177.2																																																																																				0.463	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		20	33	0	0	0	1	0	20	33				
SEC13	6396	broad.mit.edu	37	3	10353769	10353769	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10353769G>A	ENST00000350697.3	-	5	455	c.330C>T	c.(328-330)tgC>tgT	p.C110C	SEC13_ENST00000397117.1_Silent_p.C96C|SEC13_ENST00000397109.3_Silent_p.C96C|SEC13_ENST00000383801.2_Silent_p.C156C|SEC13_ENST00000337354.4_Silent_p.C113C	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	110					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GGGGGGCCCAGCACACCGAGT	0.592																																						ENST00000397117.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(286-288)tgC>tgT		SEC13 homolog (S. cerevisiae)							38.0	32.0	34.0					3																	10353769		2203	4300	6503	SO:0001819	synonymous_variant	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10353769G>A		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.330C>T	3.37:g.10353769G>A						SEC13_ENST00000337354.4_Silent_p.C113C|SEC13_ENST00000383801.2_Silent_p.C156C|SEC13_ENST00000350697.3_Silent_p.C110C|SEC13_ENST00000397109.3_Silent_p.C96C	p.C96C			P55735	SEC13_HUMAN			5	879	-			110					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Silent	SNP	ENST00000350697.3	37	c.288C>T	CCDS2599.1																																																																																				0.592	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			4	6	0	0	0	1	0	4	6				
MLH1	4292	broad.mit.edu	37	3	37067299	37067299	+	Missense_Mutation	SNP	C	C	A	rs63751015		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37067299C>A	ENST00000231790.2	+	12	1426	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	MLH1_ENST00000536378.1_Missense_Mutation_p.L163M|MLH1_ENST00000458205.2_Missense_Mutation_p.L163M|MLH1_ENST00000435176.1_Missense_Mutation_p.L306M|MLH1_ENST00000539477.1_Missense_Mutation_p.L163M|MLH1_ENST00000455445.2_Missense_Mutation_p.L163M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	404					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GAGCAAACCCCTGTCCAGTCA	0.517		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127	GRCh37	CD064579	MLH1	D		c.(1210-1212)Ctg>Atg	Mismatch excision repair (MMR)	mutL homolog 1							116.0	115.0	115.0					3																	37067299		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37067299C>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1210C>A	3.37:g.37067299C>A	ENSP00000231790:p.Leu404Met					MLH1_ENST00000435176.1_Missense_Mutation_p.L306M|MLH1_ENST00000458205.2_Missense_Mutation_p.L163M|MLH1_ENST00000455445.2_Missense_Mutation_p.L163M|MLH1_ENST00000539477.1_Missense_Mutation_p.L163M|MLH1_ENST00000536378.1_Missense_Mutation_p.L163M	p.L404M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			12	1426	+			404					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.1210C>A	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053913	0.36277	.	.	ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.66	1.18	0.20946	.	1.117560	0.06638	N	0.760481	T	0.76543	0.4002	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.18863	0.031;0.018;0.031;0.024;0.008;0.007	B;B;B;B;B;B	0.12837	0.008;0.008;0.008;0.005;0.005;0.005	T	0.63821	-0.6550	10	0.44086	T	0.13	3.0458	5.4267	0.16429	0.1021:0.5436:0.2187:0.1355	.	306;306;163;163;404;404	E9PCU2;B4DQ11;B7Z821;B4DI13;Q53GX1;P40692	.;.;.;.;.;MLH1_HUMAN	M	404;268;163;163;163;306;163	ENSP00000231790:L404M;ENSP00000402667:L163M;ENSP00000443665:L163M;ENSP00000398272:L163M;ENSP00000402564:L306M;ENSP00000444286:L163M	ENSP00000231790:L404M	L	+	1	2	MLH1	37042303	0.000000	0.05858	0.000000	0.03702	0.644000	0.38419	-0.143000	0.10296	0.285000	0.22329	-0.136000	0.14681	CTG		0.517	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		6	85	1	0	5.18039e-06	1	5.91835e-06	6	85				
ARID5B	84159	broad.mit.edu	37	10	63817058	63817058	+	Silent	SNP	C	C	T	rs201642670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63817058C>T	ENST00000279873.7	+	6	1439	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	ARID5B_ENST00000309334.5_Silent_p.P100P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	343	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AACGAATACCCTATTTAGGTT	0.373																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1027-1029)ccC>ccT		AT rich interactive domain 5B (MRF1-like)							91.0	98.0	95.0					10																	63817058		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63817058C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1029C>T	10.37:g.63817058C>T						ARID5B_ENST00000309334.5_Silent_p.P100P	p.P343P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			6	1439	+	Prostate(12;0.016)|all_hematologic(501;0.215)		343			ARID.		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.1029C>T	CCDS31208.1																																																																																				0.373	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		29	78	0	0	0	1	0	29	78				
BEND3	57673	broad.mit.edu	37	6	107390799	107390799	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390799C>T	ENST00000369042.1	-	4	1786	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	BEND3_ENST00000429433.2_Silent_p.V532V			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	532										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGATGGGCACCAGCCAGA	0.622																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1594-1596)gtG>gtA		BEN domain containing 3							24.0	24.0	24.0					6																	107390799		2201	4300	6501	SO:0001819	synonymous_variant	57673							g.chr6:107390799C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1596G>A	6.37:g.107390799C>T						BEND3_ENST00000369042.1_Silent_p.V532V	p.V532V	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2245	-			532					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1596G>A	CCDS34507.1																																																																																				0.622	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		18	27	0	0	0	1	0	18	27				
TNFSF8	944	broad.mit.edu	37	9	117692400	117692400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117692400C>T	ENST00000223795.2	-	1	297	c.184G>A	c.(184-186)Gtt>Att	p.V62I		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	62					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCCTCTGAACGACCAACACC	0.507																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(184-186)Gtt>Att		tumor necrosis factor (ligand) superfamily, member 8							122.0	121.0	121.0					9																	117692400		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117692400C>T	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.184G>A	9.37:g.117692400C>T	ENSP00000223795:p.Val62Ile						p.V62I	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			1	297	-			62					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.184G>A	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	C	7.050	0.564355	0.13498	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	4.55	0.56014	.	0.115461	0.38492	N	0.001666	T	0.19366	0.0465	N	0.19112	0.55	0.30845	N	0.735252	D	0.56968	0.978	B	0.38296	0.27	T	0.08452	-1.0721	9	0.26408	T	0.33	-13.929	9.0571	0.36412	0.0:0.7703:0.149:0.0807	.	62	P32971	TNFL8_HUMAN	I	62	.	ENSP00000223795:V62I	V	-	1	0	TNFSF8	116732221	0.965000	0.33210	0.704000	0.30370	0.210000	0.24377	2.027000	0.41078	1.272000	0.44329	0.544000	0.68410	GTT		0.507	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			26	67	0	0	0	1	0	26	67				
ACSL3	2181	broad.mit.edu	37	2	223787865	223787865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223787865C>T	ENST00000357430.3	+	10	1681	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	ACSL3_ENST00000392066.3_Missense_Mutation_p.P384S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	384					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCAGCAGTTCCGGTAAGAAG	0.333			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(1150-1152)Ccg>Tcg		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						54.0	59.0	57.0					2																	223787865		2202	4299	6501	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223787865C>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1150C>T	2.37:g.223787865C>T	ENSP00000350012:p.Pro384Ser					ACSL3_ENST00000392066.3_Missense_Mutation_p.P384S	p.P384S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	10	1681	+		Renal(207;0.0183)	384					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.1150C>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895986	0.91962	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.61392	1.68;1.68;0.11	5.06	5.06	0.68205	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.86936	0.6053	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92674	0.6152	10	0.87932	D	0	-11.3458	18.8018	0.92021	0.0:1.0:0.0:0.0	.	384	O95573	ACSL3_HUMAN	S	384;384;154	ENSP00000350012:P384S;ENSP00000375918:P384S;ENSP00000404182:P154S	ENSP00000350012:P384S	P	+	1	0	ACSL3	223496109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.608000	0.67654	2.524000	0.85096	0.655000	0.94253	CCG		0.333	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		15	19	0	0	0	1	0	15	19				
SH3GLB1	51100	broad.mit.edu	37	1	87207962	87207962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87207962C>T	ENST00000370558.4	+	8	1157	c.833C>T	c.(832-834)gCg>gTg	p.A278V	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A299V|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A178V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	278					'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TTACCAAATGCGATTGGTTCT	0.428																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(832-834)gCg>gTg		SH3-domain GRB2-like endophilin B1							148.0	128.0	135.0					1																	87207962		2203	4300	6503	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87207962C>T	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.833C>T	1.37:g.87207962C>T	ENSP00000473267:p.Ala278Val					SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A178V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A299V	p.A278V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	8	1157	+		Lung NSC(277;0.209)	278					B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.833C>T	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	7.512	0.654851	0.14580	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.33216	1.46;1.42	5.63	-2.22	0.06952	Src homology-3 domain (1);	0.861728	0.10568	N	0.659464	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.46119	-0.9214	10	0.14656	T	0.56	2.2746	8.5322	0.33342	0.0:0.4558:0.1107:0.4336	.	178;299;278	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	V	278;178;299	ENSP00000441355:A178V;ENSP00000418744:A299V	ENSP00000212369:A278V	A	+	2	0	SH3GLB1	86980550	0.012000	0.17670	0.508000	0.27688	0.665000	0.39181	0.290000	0.18975	-0.033000	0.13736	-0.262000	0.10625	GCG		0.428	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		29	83	0	0	0	1	0	29	83				
SUSD5	26032	broad.mit.edu	37	3	33195514	33195514	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33195514C>T	ENST00000309558.3	-	5	1027	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	204					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATGTGTGCCTCAGCCTCA	0.448																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(610-612)Gca>Aca		sushi domain containing 5							28.0	26.0	27.0					3																	33195514		1897	4114	6011	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195514C>T	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.610G>A	3.37:g.33195514C>T	ENSP00000308727:p.Ala204Thr						p.A204T	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			5	1027	-			204						Missense_Mutation	SNP	ENST00000309558.3	37	c.610G>A	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126250	0.77549	.	.	ENSG00000173705	ENST00000309558	T	0.08896	3.04	5.88	4.82	0.62117	.	0.248456	0.38548	N	0.001649	T	0.09774	0.0240	L	0.50333	1.59	0.37600	D	0.920511	P	0.37122	0.583	B	0.34489	0.184	T	0.09487	-1.0672	10	0.45353	T	0.12	-6.5607	14.1607	0.65446	0.0:0.9192:0.0:0.0808	.	204	O60279	SUSD5_HUMAN	T	204	ENSP00000308727:A204T	ENSP00000308727:A204T	A	-	1	0	SUSD5	33170518	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.478000	0.45189	2.792000	0.96026	0.555000	0.69702	GCA		0.448	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		9	14	0	0	0	1	0	9	14				
GABRR3	200959	broad.mit.edu	37	3	97705802	97705802	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97705802C>T	ENST00000472788.1	-	0	1130					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCTTGAACTGCATCAATATTG	0.338																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							38.0	35.0	36.0					3																	97705802		1863	4094	5957			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97705802C>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97705802C>T								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	1130	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.338	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			6	4	0	0	0	1	0	6	4				
TMOD3	29766	broad.mit.edu	37	15	52181338	52181338	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52181338T>G	ENST00000308580.7	+	5	773	c.492T>G	c.(490-492)ttT>ttG	p.F164L	TMOD3_ENST00000544199.1_Missense_Mutation_p.F164L|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	164						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGAACATTTTTCAAGTGAGT	0.299																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(490-492)ttT>ttG		tropomodulin 3 (ubiquitous)							72.0	72.0	72.0					15																	52181338		2194	4279	6473	SO:0001583	missense	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52181338T>G	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.492T>G	15.37:g.52181338T>G	ENSP00000308753:p.Phe164Leu					RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.F164L	p.F164L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	5	773	+			164					B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	c.492T>G	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.277253	0.23307	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.13420	2.59;2.59	5.68	3.37	0.38596	.	0.255608	0.41396	D	0.000890	T	0.09686	0.0238	L	0.41492	1.28	0.46749	D	0.999182	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	10	0.09590	T	0.72	-19.4642	8.4251	0.32725	0.0:0.2861:0.0:0.7139	.	164	Q9NYL9	TMOD3_HUMAN	L	164	ENSP00000308753:F164L;ENSP00000438909:F164L	ENSP00000308753:F164L	F	+	3	2	TMOD3	49968630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	0.889000	0.28282	0.428000	0.26173	0.533000	0.62120	TTT		0.299	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			21	34	0	0	0	1	0	21	34				
CCR2	729230	broad.mit.edu	37	3	46399343	46399343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46399343G>A	ENST00000400888.2	+	1	364	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	CCR2_ENST00000445132.2_Missense_Mutation_p.G109R|CCR2_ENST00000292301.4_Missense_Mutation_p.G109R|CCR2_ENST00000465202.1_Intron			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	109					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGGTCTTTGGGAATGCAAT	0.443																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(325-327)Ggg>Agg		chemokine (C-C motif) receptor 2							328.0	299.0	308.0					3																	46399343		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399343G>A		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.325G>A	3.37:g.46399343G>A	ENSP00000383681:p.Gly109Arg					CCR2_ENST00000400888.2_Missense_Mutation_p.G109R|CCR2_ENST00000445132.2_Missense_Mutation_p.G109R|CCR2_ENST00000465202.1_Intron	p.G109R	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	810	+			109					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.325G>A	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884890	0.51908	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.80706	0.4674	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88854	0.3321	10	0.72032	D	0.01	.	17.3864	0.87417	0.0:0.0:1.0:0.0	.	109;109	P41597;Q4VBL2	CCR2_HUMAN;.	R	109	ENSP00000399285:G109R;ENSP00000292301:G109R;ENSP00000396736:G109R;ENSP00000383681:G109R	ENSP00000292301:G109R	G	+	1	0	CCR2	46374347	1.000000	0.71417	0.041000	0.18516	0.004000	0.04260	9.813000	0.99286	2.183000	0.69458	0.650000	0.86243	GGG		0.443	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		8	282	0	0	0	1	0	8	282				
PGM2	55276	broad.mit.edu	37	4	37841824	37841824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37841824C>T	ENST00000381967.4	+	6	762	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PGM2_ENST00000544359.1_Missense_Mutation_p.P82L|PGM2_ENST00000537241.1_Missense_Mutation_p.P61L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	221					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTCCACAATCCGAGTGCTTCC	0.393																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(661-663)cCg>cTg		phosphoglucomutase 2							104.0	108.0	106.0					4																	37841824		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37841824C>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.662C>T	4.37:g.37841824C>T	ENSP00000371393:p.Pro221Leu					PGM2_ENST00000544359.1_Missense_Mutation_p.P82L|PGM2_ENST00000537241.1_Missense_Mutation_p.P61L	p.P221L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			6	762	+			221					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.662C>T	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090970	0.55968	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T	0.61627	0.09;1.99	5.95	5.95	0.96441	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.79123	2.44	0.80722	D	1	P;P	0.42941	0.794;0.747	B;B	0.36808	0.233;0.104	T	0.59584	-0.7427	10	0.11485	T	0.65	-14.351	20.4024	0.99000	0.0:1.0:0.0:0.0	.	221;82	Q96G03;B4E0G8	PGM2_HUMAN;.	L	221;82;61	ENSP00000371393:P221L;ENSP00000437342:P61L	ENSP00000371393:P221L	P	+	2	0	PGM2	37518219	1.000000	0.71417	0.839000	0.33178	0.007000	0.05969	7.555000	0.82223	2.827000	0.97445	0.650000	0.86243	CCG		0.393	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		8	94	0	0	0	1	0	8	94				
CEP97	79598	broad.mit.edu	37	3	101474341	101474341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101474341C>T	ENST00000341893.3	+	7	1548	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	CEP97_ENST00000494050.1_Missense_Mutation_p.L266F|CEP97_ENST00000327230.4_Missense_Mutation_p.L266F			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	266					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCACATCCAGCTTGTCCAATA	0.473																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(796-798)Ctt>Ttt		centrosomal protein 97kDa							113.0	104.0	107.0					3																	101474341		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101474341C>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.796C>T	3.37:g.101474341C>T	ENSP00000342510:p.Leu266Phe					CEP97_ENST00000494050.1_Missense_Mutation_p.L266F|CEP97_ENST00000327230.4_Missense_Mutation_p.L266F	p.L266F			Q8IW35	CEP97_HUMAN			7	1548	+			266					B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.796C>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590348	0.86851	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.60299	0.2;0.27;0.42	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.77419	-0.2595	10	0.87932	D	0	-10.2298	11.4931	0.50391	0.0:0.8434:0.0:0.1566	.	266;266;266	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	F	266	ENSP00000342510:L266F;ENSP00000325881:L266F;ENSP00000418185:L266F	ENSP00000325881:L266F	L	+	1	0	CEP97	102957031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.065000	0.49994	2.868000	0.98415	0.557000	0.71058	CTT		0.473	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		17	36	0	0	0	1	0	17	36				
ANK2	287	broad.mit.edu	37	4	114288729	114288729	+	Silent	SNP	G	G	A	rs72544142		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114288729G>A	ENST00000357077.4	+	42	11093	c.11040G>A	c.(11038-11040)tcG>tcA	p.S3680S	ANK2_ENST00000510275.2_Silent_p.S247S|ANK2_ENST00000506722.1_Silent_p.S1586S|ANK2_ENST00000394537.3_Silent_p.S1595S|ANK2_ENST00000264366.6_Silent_p.S3647S|ANK2_ENST00000509550.1_Silent_p.S771S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3680					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGGGTTCTCGGTACTTCAAG	0.363																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(11038-11040)tcG>tcA		ankyrin 2, neuronal		G	,,	1,4405		0,1,2202	68.0	68.0	68.0		4758,11040,4785	-6.4	0.2	4	dbSNP_130	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	1586/1864,3680/3958,1595/1873	114288729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114288729G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11040G>A	4.37:g.114288729G>A						ANK2_ENST00000510275.2_Silent_p.S247S|ANK2_ENST00000264366.6_Silent_p.S3647S|ANK2_ENST00000509550.1_Silent_p.S771S|ANK2_ENST00000394537.3_Silent_p.S1595S|ANK2_ENST00000506722.1_Silent_p.S1586S	p.S3680S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	42	11093	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3647					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.11040G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084013	0.07097	2.27E-4	0.0	ENSG00000145362	ENST00000514960	.	.	.	5.61	-6.41	0.01938	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41395	-0.9511	4	.	.	.	.	4.1445	0.10209	0.2887:0.0966:0.4277:0.187	.	.	.	.	S	597	.	.	G	+	1	0	ANK2	114508178	0.010000	0.17322	0.209000	0.23619	0.629000	0.37895	-1.492000	0.02300	-1.141000	0.02873	-0.350000	0.07774	GGT		0.363	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		21	44	0	0	0	1	0	21	44				
ITGAE	3682	broad.mit.edu	37	17	3620083	3620083	+	Missense_Mutation	SNP	C	C	T	rs186636209	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3620083C>T	ENST00000263087.4	-	30	3441	c.3343G>A	c.(3343-3345)Gtc>Atc	p.V1115I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1115					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGAAGACGACAGTGATC	0.408																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(3343-3345)Gtc>Atc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							145.0	119.0	127.0					17																	3620083		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3620083C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.3343G>A	17.37:g.3620083C>T	ENSP00000263087:p.Val1115Ile						p.V1115I	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	30	3441	-			1115					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.3343G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	0.224	-1.026030	0.02045	.	.	ENSG00000083457	ENST00000263087	T	0.47528	0.84	4.49	0.725	0.18242	.	.	.	.	.	T	0.16514	0.0397	N	0.01168	-0.975	0.19945	N	0.999948	B	0.06786	0.001	B	0.04013	0.001	T	0.29027	-1.0025	9	0.14656	T	0.56	.	7.1069	0.25368	0.0:0.286:0.0:0.714	.	1115	P38570	ITAE_HUMAN	I	1115	ENSP00000263087:V1115I	ENSP00000263087:V1115I	V	-	1	0	ITGAE	3566832	0.991000	0.36638	0.986000	0.45419	0.004000	0.04260	0.029000	0.13666	0.003000	0.14656	-0.982000	0.02568	GTC		0.408	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		27	52	0	0	0	1	0	27	52				
TBC1D19	55296	broad.mit.edu	37	4	26750113	26750113	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26750113G>T	ENST00000264866.4	+	19	1678	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	TBC1D19_ENST00000511789.1_Missense_Mutation_p.R402I	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	467	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTATGGGATAGAATCCTAGGA	0.368																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1399-1401)aGa>aTa		TBC1 domain family, member 19							135.0	136.0	135.0					4																	26750113		2203	4300	6503	SO:0001583	missense	55296					intracellular	Rab GTPase activator activity	g.chr4:26750113G>T	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1400G>T	4.37:g.26750113G>T	ENSP00000264866:p.Arg467Ile					TBC1D19_ENST00000511789.1_Missense_Mutation_p.R402I	p.R467I	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			19	1678	+		Breast(46;0.0503)	467			Rab-GAP TBC.		B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	37	c.1400G>T	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062069	0.93846	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.09350	2.99;2.99	5.83	5.83	0.93111	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;D;D	0.77557	0.986;0.99;0.99	T	0.01684	-1.1296	10	0.23891	T	0.37	-14.9502	20.1099	0.97909	0.0:0.0:1.0:0.0	.	402;467;467	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	I	467;402	ENSP00000264866:R467I;ENSP00000425569:R402I	ENSP00000264866:R467I	R	+	2	0	TBC1D19	26359211	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.230000	0.95299	2.753000	0.94483	0.585000	0.79938	AGA		0.368	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		36	92	1	0	6.97489e-18	1	9.07097e-18	36	92				
TH	7054	broad.mit.edu	37	11	2185527	2185527	+	Missense_Mutation	SNP	C	C	T	rs78426052		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2185527C>T	ENST00000381178.1	-	14	1541	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	TH_ENST00000381175.1_Missense_Mutation_p.R504H|TH_ENST00000333684.5_Missense_Mutation_p.R387H|INS_ENST00000381330.4_5'Flank|TH_ENST00000352909.3_Missense_Mutation_p.R477H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	508					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCAGGGAGCGCCGCACGGC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		17688	0.0		0.001	False		,,,				2504	0.0					ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(1522-1524)cGc>cAc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						53.0	47.0	49.0					11																	2185527		2201	4297	6498	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2185527C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1523G>A	11.37:g.2185527C>T	ENSP00000370571:p.Arg508His					TH_ENST00000352909.3_Missense_Mutation_p.R477H|TH_ENST00000333684.5_Missense_Mutation_p.R387H|TH_ENST00000381175.1_Missense_Mutation_p.R504H	p.R508H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	14	1541	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	508					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.1523G>A	CCDS7731.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	7.381	0.628837	0.14257	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99511	-6.05;-6.05;-6.05;-6.05	4.29	2.39	0.29439	Aromatic amino acid hydroxylase, C-terminal (3);	0.594910	0.17035	N	0.189552	D	0.96525	0.8866	N	0.16130	0.375	0.20638	N	0.999872	B;B;B;B;B;B	0.23540	0.007;0.01;0.087;0.003;0.007;0.006	B;B;B;B;B;B	0.16722	0.004;0.016;0.016;0.003;0.007;0.003	D	0.93638	0.6962	10	0.33940	T	0.23	-14.5485	7.8717	0.29569	0.0:0.7004:0.0:0.2996	.	481;387;383;477;508;504	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	508;504;477;387	ENSP00000370571:R508H;ENSP00000370567:R504H;ENSP00000325951:R477H;ENSP00000328814:R387H	ENSP00000328814:R387H	R	-	2	0	TH	2142103	0.999000	0.42202	0.146000	0.22360	0.100000	0.18952	1.769000	0.38522	0.373000	0.24621	-0.218000	0.12543	CGC		0.672	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		26	18	0	0	0	1	0	26	18				
ITGA6	3655	broad.mit.edu	37	2	173344431	173344431	+	Missense_Mutation	SNP	G	G	A	rs200082047		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173344431G>A	ENST00000264106.6	+	11	1771	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	ITGA6_ENST00000409080.1_Missense_Mutation_p.R484H|ITGA6_ENST00000375221.2_Missense_Mutation_p.R523H|ITGA6_ENST00000343713.4_Missense_Mutation_p.R479H|ITGA6_ENST00000264107.7_Missense_Mutation_p.R484H|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.R365H			P23229	ITA6_HUMAN	integrin, alpha 6	523					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATTGACCTCCGCCAGAAAACA	0.498																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(1567-1569)cGc>cAc		integrin, alpha 6							141.0	149.0	146.0					2																	173344431		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173344431G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1568G>A	2.37:g.173344431G>A	ENSP00000264106:p.Arg523His					ITGA6_ENST00000264106.6_Missense_Mutation_p.R523H|ITGA6_ENST00000264107.7_Missense_Mutation_p.R484H|ITGA6_ENST00000409532.1_Missense_Mutation_p.R365H|ITGA6_ENST00000409080.1_Missense_Mutation_p.R484H|ITGA6_ENST00000343713.4_Missense_Mutation_p.R479H	p.R523H			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		11	1771	+			523					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	12.70	2.015200	0.35511	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.38	3.59	0.41128	.	0.458363	0.26003	N	0.026932	T	0.35364	0.0929	L	0.36672	1.1	0.30230	N	0.796007	B;B;B;B	0.13594	0.008;0.002;0.001;0.001	B;B;B;B	0.12837	0.008;0.003;0.003;0.003	T	0.33085	-0.9882	10	0.62326	D	0.03	.	7.4474	0.27219	0.2633:0.0:0.7366:0.0	.	479;523;484;484	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	H	365;484;523;523;479;484;523;479	ENSP00000386614:R365H;ENSP00000264107:R484H;ENSP00000264106:R523H;ENSP00000364369:R523H;ENSP00000341078:R479H;ENSP00000386896:R484H;ENSP00000406694:R523H;ENSP00000394169:R479H	ENSP00000264106:R523H	R	+	2	0	ITGA6	173052677	0.811000	0.29063	1.000000	0.80357	0.663000	0.39108	0.535000	0.23114	0.654000	0.30846	0.655000	0.94253	CGC		0.498	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				75	109	0	0	0	1	0	75	109				
RNF40	9810	broad.mit.edu	37	16	30776312	30776312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30776312C>T	ENST00000324685.6	+	6	1138	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	C16orf93_ENST00000543610.1_5'Flank|C16orf93_ENST00000541260.1_5'Flank|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.R235C|RNF40_ENST00000357890.5_Missense_Mutation_p.R235C|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	235					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGCTGGGCCGTGAGAACCG	0.647																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(703-705)Cgt>Tgt		ring finger protein 40, E3 ubiquitin protein ligase							28.0	32.0	31.0					16																	30776312		2197	4299	6496	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30776312C>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.703C>T	16.37:g.30776312C>T	ENSP00000325677:p.Arg235Cys					RNF40_ENST00000563683.1_Missense_Mutation_p.R235C|RNF40_ENST00000357890.5_Missense_Mutation_p.R235C|RNF40_ENST00000402121.3_Intron	p.R235C	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		6	1138	+			235					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.703C>T	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149939	0.37923	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.44083	0.93;1.48	5.79	3.75	0.43078	.	0.362202	0.28724	N	0.014348	T	0.37812	0.1017	L	0.29908	0.895	0.09310	N	0.999998	D;B;B	0.64830	0.994;0.001;0.004	P;B;B	0.47744	0.556;0.001;0.001	T	0.20405	-1.0276	10	0.59425	D	0.04	-8.6806	12.9667	0.58488	0.5538:0.4462:0.0:0.0	.	235;235;235	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	C	235;235;84	ENSP00000325677:R235C;ENSP00000350563:R235C	ENSP00000325677:R235C	R	+	1	0	RNF40	30683813	.	.	0.983000	0.44433	0.912000	0.54170	.	.	0.710000	0.31997	0.655000	0.94253	CGT		0.647	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		10	30	0	0	0	1	0	10	30				
SHANK2	22941	broad.mit.edu	37	11	70319000	70319000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319000C>T	ENST00000423696.2	-	16	4423	c.4387G>A	c.(4387-4389)Gct>Act	p.A1463T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1246T|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1843T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1247T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1463	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTTTCAAAGCCCTTTCTATG	0.502																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5527-5529)Gct>Act		SH3 and multiple ankyrin repeat domains 2							202.0	207.0	205.0					11																	70319000		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319000C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4387G>A	11.37:g.70319000C>T	ENSP00000394536:p.Ala1463Thr					SHANK2_ENST00000423696.2_Missense_Mutation_p.A1463T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1247T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A1246T	p.A1843T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5526	-			1463					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5527G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.560646	0.96527	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.84	5.84	0.93424	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.86039	0.1518	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	1463;1842;1247	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	1247;1246;1121;1843;1463;1481;1466	ENSP00000399423:A1247T;ENSP00000386491:A1246T;ENSP00000402944:A1121T;ENSP00000345193:A1843T;ENSP00000394536:A1463T;ENSP00000294018:A1466T	ENSP00000294018:A1466T	A	-	1	0	SHANK2	69996648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.760000	0.94817	0.655000	0.94253	GCT		0.502	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		36	101	0	0	0	1	0	36	101				
TTC23	64927	broad.mit.edu	37	15	99762037	99762037	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99762037G>A	ENST00000394132.2	-	6	1030	c.213C>T	c.(211-213)tgC>tgT	p.C71C	TTC23_ENST00000262074.4_Silent_p.C71C|TTC23_ENST00000558613.1_Silent_p.C71C|TTC23_ENST00000394135.3_Silent_p.C71C|TTC23_ENST00000558663.1_Silent_p.C71C|TTC23_ENST00000394130.1_Silent_p.C71C|TTC23_ENST00000394129.2_Silent_p.C71C|TTC23_ENST00000394136.1_Silent_p.C71C			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	71										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCAGTGCTACGCAACGCACAA	0.448																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(211-213)tgC>tgT		tetratricopeptide repeat domain 23							121.0	97.0	105.0					15																	99762037		2197	4297	6494	SO:0001819	synonymous_variant	64927						binding	g.chr15:99762037G>A		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.213C>T	15.37:g.99762037G>A						TTC23_ENST00000558613.1_Silent_p.C71C|TTC23_ENST00000394130.1_Silent_p.C71C|TTC23_ENST00000394136.1_Silent_p.C71C|TTC23_ENST00000394129.2_Silent_p.C71C|TTC23_ENST00000558663.1_Silent_p.C71C|TTC23_ENST00000394135.3_Silent_p.C71C|TTC23_ENST00000262074.4_Silent_p.C71C	p.C71C			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		6	1030	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		71					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Silent	SNP	ENST00000394132.2	37	c.213C>T	CCDS10379.2																																																																																				0.448	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		17	22	0	0	0	1	0	17	22				
NT5C1B	93034	broad.mit.edu	37	2	18766032	18766032	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18766032G>T	ENST00000359846.2	-	5	728	c.651C>A	c.(649-651)gcC>gcA	p.A217A	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.A157A|NT5C1B_ENST00000600945.1_Silent_p.A217A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A217A	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	217					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGATGCCTTGGGCCCAGGCCT	0.692																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(469-471)gcC>gcA		5'-nucleotidase, cytosolic IB							24.0	26.0	26.0					2																	18766032		2202	4295	6497	SO:0001819	synonymous_variant	93034							g.chr2:18766032G>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.651C>A	2.37:g.18766032G>T						NT5C1B_ENST00000600945.1_Silent_p.A217A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A217A|NT5C1B_ENST00000359846.2_Silent_p.A217A	p.A157A	NM_033253.3	NP_150278.2					4	571	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.471C>A	CCDS33150.1																																																																																				0.692	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			5	10	1	0	0.000602214	1	0.000649039	5	10				
DNAH3	55567	broad.mit.edu	37	16	20996860	20996860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20996860C>T	ENST00000261383.3	-	48	7203	c.7204G>A	c.(7204-7206)Gcc>Acc	p.A2402T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2402	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACATGGGGGCCTTGCTGATG	0.507																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(7204-7206)Gcc>Acc		dynein, axonemal, heavy chain 3							137.0	117.0	124.0					16																	20996860		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996860C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7204G>A	16.37:g.20996860C>T	ENSP00000261383:p.Ala2402Thr					DNAH3_ENST00000415178.1_3'UTR	p.A2402T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7203	-			2402			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7204G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719667	0.15372	.	.	ENSG00000158486	ENST00000261383	T	0.48201	0.82	4.91	4.91	0.64330	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000002	T	0.34106	0.0886	N	0.20445	0.575	0.80722	D	1	B	0.29162	0.235	B	0.28991	0.097	T	0.12319	-1.0552	10	0.12103	T	0.63	.	18.4678	0.90762	0.0:1.0:0.0:0.0	.	2402	Q8TD57	DYH3_HUMAN	T	2402	ENSP00000261383:A2402T	ENSP00000261383:A2402T	A	-	1	0	DNAH3	20904361	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.260000	0.51523	2.442000	0.82660	0.655000	0.94253	GCC		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		31	57	0	0	0	1	0	31	57				
AP1B1	162	broad.mit.edu	37	22	29755866	29755866	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29755866A>G	ENST00000405198.1	-	3	257	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	AP1B1_ENST00000317368.7_Missense_Mutation_p.Y76H|AP1B1_ENST00000402502.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000357586.2_Missense_Mutation_p.Y76H			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	76					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCTTGGCGTAATTCATCAAG	0.527											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(226-228)Tac>Cac		adaptor-related protein complex 1, beta 1 subunit							136.0	114.0	122.0					22																	29755866		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29755866A>G	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.226T>C	22.37:g.29755866A>G	ENSP00000384194:p.Tyr76His		OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	AP1B1_ENST00000402502.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000317368.7_Missense_Mutation_p.Y76H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000405198.1_Missense_Mutation_p.Y76H	p.Y76H	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			4	412	-			76					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.226T>C	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872590	0.91587	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.26	5.26	0.73747	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.979;0.993;1.0;1.0	T	0.44345	-0.9334	10	0.87932	D	0	-9.2128	15.1357	0.72562	1.0:0.0:0.0:0.0	.	76;76;76;76	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	H	76	ENSP00000350199:Y76H;ENSP00000348297:Y76H;ENSP00000400065:Y76H;ENSP00000384194:Y76H;ENSP00000319361:Y76H;ENSP00000386071:Y76H;ENSP00000387612:Y76H;ENSP00000400022:Y76H	ENSP00000319361:Y76H	Y	-	1	0	AP1B1	28085866	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.287000	0.95975	2.116000	0.64780	0.459000	0.35465	TAC		0.527	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		6	67	0	0	0	1	0	6	67				
ASTN1	460	broad.mit.edu	37	1	176833575	176833575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176833575G>A	ENST00000367654.3	-	23	3965	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1244W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1252					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1244W(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCTGCGCCGCAAGCTTATC	0.567																																						ENST00000367654.2																			1	Substitution - Missense(1)	p.R1244W(1)	kidney(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3754-3756)Cgg>Tgg		astrotactin 1							68.0	66.0	67.0					1																	176833575		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833575G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3754C>T	1.37:g.176833575G>A	ENSP00000356626:p.Arg1252Trp					ASTN1_ENST00000361833.2_Missense_Mutation_p.R1244W|ASTN1_ENST00000367657.3_Intron	p.R1252W			O14525	ASTN1_HUMAN			23	3767	-			1252					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3754C>T		.	.	.	.	.	.	.	.	.	.	G	19.03	3.747899	0.69533	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.13778	2.57;2.56	4.61	2.51	0.30379	.	0.119931	0.64402	D	0.000017	T	0.10723	0.0262	L	0.32530	0.975	0.80722	D	1	D	0.59767	0.986	B	0.39876	0.312	T	0.04481	-1.0948	10	0.87932	D	0	-12.9814	12.7697	0.57412	0.0:0.0:0.641:0.359	.	1244	O14525-2	.	W	1244;1252	ENSP00000354536:R1244W;ENSP00000356626:R1252W	ENSP00000354536:R1244W	R	-	1	2	ASTN1	175100198	1.000000	0.71417	0.902000	0.35471	0.742000	0.42306	4.060000	0.57477	0.336000	0.23639	0.555000	0.69702	CGG		0.567	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		27	29	0	0	0	1	0	27	29				
CDON	50937	broad.mit.edu	37	11	125889636	125889636	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125889636G>A	ENST00000392693.3	-	4	501	c.374C>T	c.(373-375)aCa>aTa	p.T125I	CDON_ENST00000263577.7_Missense_Mutation_p.T125I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	125	Ig-like C2-type 2.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AACATGCTTTGTGGATGAACC	0.368																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(373-375)aCa>aTa		cell adhesion associated, oncogene regulated							55.0	57.0	56.0					11																	125889636		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125889636G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.374C>T	11.37:g.125889636G>A	ENSP00000376458:p.Thr125Ile					CDON_ENST00000263577.7_Missense_Mutation_p.T125I	p.T125I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	4	501	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	125			Ig-like C2-type 2.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.374C>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617315	0.14129	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967	T;T;T;T	0.70399	-0.46;-0.48;0.16;-0.26	5.46	3.55	0.40652	.	1.200950	0.05997	N	0.647037	T	0.64681	0.2620	L	0.50333	1.59	0.09310	N	1	B;B;B	0.13594	0.008;0.007;0.005	B;B;B	0.14578	0.003;0.011;0.006	T	0.49978	-0.8881	10	0.33141	T	0.24	-0.0034	6.79	0.23695	0.1683:0.3983:0.4334:0.0	.	125;125;125	E9PRD8;Q4KMG0;Q4KMG0-2	.;CDON_HUMAN;.	I	125	ENSP00000376458:T125I;ENSP00000263577:T125I;ENSP00000434212:T125I;ENSP00000436940:T125I	ENSP00000263577:T125I	T	-	2	0	CDON	125394846	0.880000	0.30214	0.703000	0.30354	0.997000	0.91878	1.371000	0.34250	1.411000	0.46957	0.655000	0.94253	ACA		0.368	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		22	50	0	0	0	1	0	22	50				
FAM208B	54906	broad.mit.edu	37	10	5788715	5788715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5788715C>A	ENST00000328090.5	+	15	3956	c.3331C>A	c.(3331-3333)Ccc>Acc	p.P1111T	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1111																	GAGGGACATTCCCTCTCTAGT	0.468																																						ENST00000328090.5																			0											c.(3331-3333)Ccc>Acc		family with sequence similarity 208, member B							126.0	121.0	123.0					10																	5788715		2006	4186	6192	SO:0001583	missense	54906							g.chr10:5788715C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3331C>A	10.37:g.5788715C>A	ENSP00000328426:p.Pro1111Thr						p.P1111T	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	3956	+			1111					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.3331C>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	3.405	-0.121503	0.06838	.	.	ENSG00000108021	ENST00000328090	T	0.04758	3.56	5.46	-9.22	0.00675	.	1.066830	0.07274	N	0.869606	T	0.04048	0.0113	L	0.42245	1.32	0.09310	N	1	B	0.20052	0.041	B	0.18871	0.023	T	0.39143	-0.9628	10	0.72032	D	0.01	.	6.5456	0.22404	0.0857:0.2663:0.0849:0.5631	.	1111	Q5VWN6	F208B_HUMAN	T	1111	ENSP00000328426:P1111T	ENSP00000328426:P1111T	P	+	1	0	C10orf18	5828721	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.560000	0.02160	-2.449000	0.00544	-1.936000	0.00505	CCC		0.468	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		53	69	1	0	1.63038e-21	1	2.14664e-21	53	69				
PFAS	5198	broad.mit.edu	37	17	8158983	8158983	+	Missense_Mutation	SNP	C	C	T	rs139148307	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8158983C>T	ENST00000314666.6	+	5	681	c.548C>T	c.(547-549)gCg>gTg	p.A183V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	183					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGCCGGCTTGCGCTGGAGAAG	0.592													C|||	7	0.00139776	0.0008	0.0058	5008	,	,		18477	0.0		0.002	False		,,,				2504	0.0					ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(547-549)gCg>gTg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C	VAL/ALA	0,4406		0,0,2203	44.0	44.0	44.0		548	5.6	1.0	17	dbSNP_134	44	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PFAS	NM_012393.2	64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	183/1339	8158983	3,13003	2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158983C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.548C>T	17.37:g.8158983C>T	ENSP00000313490:p.Ala183Val					PFAS_ENST00000545834.1_Intron	p.A183V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			5	681	+			183					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.548C>T	CCDS11136.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	27.1	4.798998	0.90538	0.0	3.49E-4	ENSG00000178921	ENST00000314666	T	0.30714	1.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.62732	-0.6792	10	0.87932	D	0	-19.7182	16.9916	0.86355	0.0:1.0:0.0:0.0	.	183	O15067	PUR4_HUMAN	V	183	ENSP00000313490:A183V	ENSP00000313490:A183V	A	+	2	0	PFAS	8099708	0.998000	0.40836	0.980000	0.43619	0.807000	0.45602	3.901000	0.56303	2.608000	0.88229	0.462000	0.41574	GCG		0.592	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			12	11	0	0	0	1	0	12	11				
SNRK	54861	broad.mit.edu	37	3	43389157	43389157	+	Missense_Mutation	SNP	G	G	A	rs371900831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389157G>A	ENST00000296088.7	+	7	1710	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000437827.1_Missense_Mutation_p.R263Q|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.R469Q|SNRK_ENST00000429705.2_Missense_Mutation_p.R469Q	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTTTTGCGCCGGAAGCCATCT	0.527																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(1405-1407)cGg>cAg		SNF related kinase		G	GLN/ARG,GLN/ARG	0,4192		0,0,2096	133.0	147.0	143.0		1406,1406	4.7	1.0	3		143	3,8379		0,3,4188	no	missense,missense	SNRK	NM_001100594.1,NM_017719.4	43,43	0,3,6284	AA,AG,GG		0.0358,0.0,0.0239	possibly-damaging,possibly-damaging	469/766,469/766	43389157	3,12571	2096	4191	6287	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43389157G>A	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1406G>A	3.37:g.43389157G>A	ENSP00000296088:p.Arg469Gln					SNRK_ENST00000454177.1_Missense_Mutation_p.R469Q|SNRK_ENST00000437827.1_Missense_Mutation_p.R263Q|SNRK_ENST00000429705.2_Missense_Mutation_p.R469Q	p.R469Q	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	1710	+			469						Missense_Mutation	SNP	ENST00000296088.7	37	c.1406G>A	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202536	0.79127	0.0	3.58E-4	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.66995	-0.24;-0.24;-0.24;2.56	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	L	0.47716	1.5	0.80722	D	1	D	0.60575	0.988	B	0.42343	0.384	T	0.61387	-0.7073	10	0.24483	T	0.36	.	17.907	0.88921	0.0:0.0:1.0:0.0	.	469	Q9NRH2	SNRK_HUMAN	Q	469;469;469;263	ENSP00000401246:R469Q;ENSP00000411375:R469Q;ENSP00000296088:R469Q;ENSP00000409516:R263Q	ENSP00000296088:R469Q	R	+	2	0	SNRK	43364161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	2.304000	0.77564	0.563000	0.77884	CGG		0.527	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		8	65	0	0	0	1	0	8	65				
P4HTM	54681	broad.mit.edu	37	3	49044189	49044189	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49044189T>A	ENST00000383729.4	+	9	1729	c.1358T>A	c.(1357-1359)aTt>aAt	p.I453N	WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.I514N|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000415265.2_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	453	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACCAAGTGGATTGCCAACAAC	0.627																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1540-1542)aTt>aAt		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						55.0	53.0	54.0					3																	49044189		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49044189T>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1358T>A	3.37:g.49044189T>A	ENSP00000373235:p.Ile453Asn					P4HTM_ENST00000383729.4_Missense_Mutation_p.I453N	p.I514N	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			9	1909	+			453					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1541T>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	T	34	5.313461	0.95655	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.60299	0.2	5.51	5.51	0.81932	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.106567	0.64402	D	0.000007	T	0.77605	0.4155	M	0.85299	2.745	0.40947	D	0.984516	D;D	0.69078	0.979;0.997	D;D	0.68621	0.953;0.959	T	0.82394	-0.0479	10	0.72032	D	0.01	-27.6945	14.8059	0.69956	0.0:0.0:0.0:1.0	.	514;453	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	N	453;514	ENSP00000373235:I453N	ENSP00000341422:I514N	I	+	2	0	P4HTM	49019193	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.937000	0.70162	2.093000	0.63338	0.533000	0.62120	ATT		0.627	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		12	16	0	0	0	1	0	12	16				
MPND	84954	broad.mit.edu	37	19	4352926	4352926	+	Silent	SNP	G	G	A	rs376707936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4352926G>A	ENST00000262966.8	+	4	631	c.564G>A	c.(562-564)ttG>ttA	p.L188L	MPND_ENST00000359935.4_Silent_p.L188L|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000599840.1_Silent_p.L188L	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	188							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggagttgctgatggaag	0.652																																						ENST00000599840.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(562-564)ttG>ttA		MPN domain containing							25.0	28.0	27.0					19																	4352926		1993	4158	6151	SO:0001819	synonymous_variant	84954						peptidase activity	g.chr19:4352926G>A		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.564G>A	19.37:g.4352926G>A						MPND_ENST00000262966.8_Silent_p.L188L|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000359935.4_Silent_p.L188L	p.L188L			Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	4	599	+			188					Q96SJ0|Q9Y2P1|Q9Y2P2	Silent	SNP	ENST00000262966.8	37	c.564G>A	CCDS42470.1																																																																																				0.652	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		8	24	0	0	0	1	0	8	24				
SIGLEC11	114132	broad.mit.edu	37	19	50463908	50463908	+	Missense_Mutation	SNP	C	C	T	rs376315578		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463908C>T	ENST00000447370.2	-	2	451	c.361G>A	c.(361-363)Gcg>Acg	p.A121T	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121T|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCCTCTGCGCGTCTCTGATC	0.542																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(361-363)Gcg>Acg		sialic acid binding Ig-like lectin 11		C	THR/ALA,THR/ALA	2,4134		0,2,2066	21.0	32.0	28.0		361,361	3.3	0.0	19		28	2,8578		0,2,4288	no	missense,missense	SIGLEC11	NM_001135163.1,NM_052884.2	58,58	0,4,6354	TT,TC,CC		0.0233,0.0484,0.0315	benign,benign	121/603,121/699	50463908	4,12712	2068	4290	6358	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50463908C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.361G>A	19.37:g.50463908C>T	ENSP00000412361:p.Ala121Thr					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121T	p.A121T	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	2	451	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	121			Ig-like V-type.			Missense_Mutation	SNP	ENST00000447370.2	37	c.361G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403150	0.42613	4.84E-4	2.33E-4	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.65732	-0.17	3.28	3.28	0.37604	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.745519	0.12354	N	0.476308	T	0.74238	0.3690	M	0.80183	2.485	0.09310	N	1	B;D	0.67145	0.246;0.996	B;P	0.56960	0.198;0.81	T	0.63545	-0.6613	9	.	.	.	.	10.7501	0.46205	0.0:1.0:0.0:0.0	.	121;121	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	T	121	ENSP00000412361:A121T	.	A	-	1	0	SIGLEC11	55155720	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	0.643000	0.24750	1.762000	0.52044	0.561000	0.74099	GCG		0.542	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		13	24	0	0	0	1	0	13	24				
ZNF512B	57473	broad.mit.edu	37	20	62658381	62658381	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62658381G>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.R652M			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GACAACATCAGGGCAGCCCAA	0.572																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1954-1956)aGg>aTg		pre-mRNA processing factor 6							125.0	100.0	109.0					20																	62658381		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62658381G>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+21676C>A	20.37:g.62658381G>T						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.R652M			O94906	PRP6_HUMAN			15	2066	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		692					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1955G>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	6.340	0.430912	0.12045	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34072	1.38;1.38	5.77	-2.58	0.06228	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.632380	0.16719	N	0.202355	T	0.19765	0.0475	N	0.19112	0.55	0.09310	N	1	B;B	0.31910	0.346;0.043	B;B	0.35770	0.21;0.104	T	0.14615	-1.0466	10	0.66056	D	0.02	.	4.5914	0.12307	0.5322:0.2513:0.0985:0.1179	.	652;692	O94906-2;O94906	.;PRP6_HUMAN	M	692;652	ENSP00000266079:R692M;ENSP00000446216:R652M	ENSP00000266079:R692M	R	+	2	0	PRPF6	62128825	0.066000	0.20996	0.000000	0.03702	0.000000	0.00434	1.151000	0.31651	-0.786000	0.04516	-2.279000	0.00272	AGG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		16	37	1	0	3.52763e-06	1	4.04633e-06	16	37				
SORCS2	57537	broad.mit.edu	37	4	7725423	7725423	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7725423G>T	ENST00000507866.2	+	19	2533		c.e19-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCTCTGCAGGGTGATGTCC	0.557																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.e19-1		sortilin-related VPS10 domain containing receptor 2							122.0	124.0	123.0					4																	7725423		2093	4212	6305	SO:0001630	splice_region_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725423G>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2425-1G>T	4.37:g.7725423G>T						SORCS2_ENST00000329016.9_Splice_Site		NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			19	2533	+								Q9P2L7	Splice_Site	SNP	ENST00000507866.2	37		CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227482	0.22542	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0532	0.64751	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORCS2	7776323	1.000000	0.71417	0.575000	0.28536	0.024000	0.10985	8.741000	0.91583	1.506000	0.48736	0.467000	0.42956	.		0.557	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	Intron	7	101	1	0	0.307466	1	0.308846	7	101				
MCM5	4174	broad.mit.edu	37	22	35819225	35819225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35819225G>A	ENST00000216122.4	+	16	2148	c.1994G>A	c.(1993-1995)aGc>aAc	p.S665N	MCM5_ENST00000382011.5_Missense_Mutation_p.S622N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	665					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTTCACCAGCCAGGAGGAC	0.602																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1993-1995)aGc>aAc		minichromosome maintenance complex component 5							65.0	53.0	57.0					22																	35819225		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35819225G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1994G>A	22.37:g.35819225G>A	ENSP00000216122:p.Ser665Asn					MCM5_ENST00000382011.5_Missense_Mutation_p.S622N	p.S665N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			16	2148	+			665					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1994G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519370	0.44866	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.03860	4.12;3.78	4.55	2.41	0.29592	.	0.167378	0.50627	D	0.000114	T	0.06781	0.0173	L	0.60455	1.87	0.36063	D	0.841599	B;B;B	0.26775	0.159;0.159;0.159	B;B;B	0.31442	0.13;0.101;0.13	T	0.14924	-1.0455	10	0.45353	T	0.12	-30.2909	8.8316	0.35087	0.0919:0.5024:0.4057:0.0	.	665;622;665	B1AHB0;B1AHB1;P33992	.;.;MCM5_HUMAN	N	665;622	ENSP00000216122:S665N;ENSP00000371441:S622N	ENSP00000216122:S665N	S	+	2	0	MCM5	34149225	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.628000	0.61282	0.527000	0.28560	-0.258000	0.10820	AGC		0.602	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			7	48	0	0	0	1	0	7	48				
FTH1	2495	broad.mit.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61734852C>T	ENST00000273550.7	-	1	280	c.46G>A	c.(46-48)Gac>Aac	p.D16N	FTH1_ENST00000532601.1_5'Flank|FTH1_ENST00000529191.1_Missense_Mutation_p.D16N|FTH1_ENST00000526640.1_Intron|FTH1_ENST00000529631.1_Missense_Mutation_p.D16N|AP003733.1_ENST00000601917.1_5'Flank	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697																																						ENST00000273550.7																			1	Substitution - Missense(1)	p.D16Y(1)	NS(1)	NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(46-48)Gac>Aac		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						10.0	11.0	11.0					11																	61734852		1923	4038	5961	SO:0001583	missense	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61734852C>T		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.46G>A	11.37:g.61734852C>T	ENSP00000273550:p.Asp16Asn					FTH1_ENST00000529191.1_Missense_Mutation_p.D16N|FTH1_ENST00000529631.1_Missense_Mutation_p.D16N|FTH1_ENST00000526640.1_Intron	p.D16N	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			1	280	-			16			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	c.46G>A	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	28.0	4.881203	0.91740	.	.	ENSG00000167996	ENST00000529191;ENST00000529631;ENST00000530019;ENST00000273550;ENST00000406545	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	4.76	4.76	0.60689	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.141911	0.64402	D	0.000007	T	0.67505	0.2900	M	0.69248	2.105	0.80722	D	1	B	0.11235	0.004	B	0.18871	0.023	T	0.67245	-0.5719	10	0.56958	D	0.05	.	17.7341	0.88387	0.0:1.0:0.0:0.0	.	16	P02794	FRIH_HUMAN	N	16;16;16;16;65	ENSP00000431659:D16N;ENSP00000431575:D16N;ENSP00000433470:D16N;ENSP00000273550:D16N	ENSP00000273550:D16N	D	-	1	0	FTH1	61491428	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.164000	0.77533	2.319000	0.78375	0.484000	0.47621	GAC		0.697	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		8	5	0	0	0	1	0	8	5				
STT3A	3703	broad.mit.edu	37	11	125488335	125488335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125488335G>A	ENST00000529196.1	+	17	2048	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	STT3A_ENST00000531491.1_Silent_p.E522E|STT3A_ENST00000392708.4_Silent_p.E614E			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	614					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATATCAAGGAGAATGACTATT	0.438																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1840-1842)gaG>gaA		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							143.0	131.0	135.0					11																	125488335		2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125488335G>A	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1842G>A	11.37:g.125488335G>A						STT3A_ENST00000529196.1_Silent_p.E614E|STT3A_ENST00000531491.1_Silent_p.E522E	p.E614E	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	16	2001	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	614					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.1842G>A	CCDS8458.1																																																																																				0.438	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		33	73	0	0	0	1	0	33	73				
CPS1	1373	broad.mit.edu	37	2	211469970	211469970	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211469970G>T	ENST00000233072.5	+	17	2177	c.1981G>T	c.(1981-1983)Ggt>Tgt	p.G661C	CPS1_ENST00000451903.2_Splice_Site_p.G210C|CPS1_ENST00000430249.2_Splice_Site_p.G667C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	661	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGTTCACACAGGTAGGCAAAG	0.373																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e17+1		carbamoyl-phosphate synthase 1, mitochondrial							146.0	131.0	136.0					2																	211469970		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211469970G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1981+1G>T	2.37:g.211469970G>T						CPS1_ENST00000451903.2_Splice_Site_p.G210_splice|CPS1_ENST00000430249.2_Splice_Site_p.G667_splice	p.G661_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	17	2177	+			661			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.1981_splice	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391564	0.83011	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.99470	-5.96;-5.96;-5.96	5.61	5.61	0.85477	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.99855	4.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96373	0.9275	10	0.87932	D	0	-9.6834	19.6236	0.95670	0.0:0.0:1.0:0.0	.	671;661	Q59HF8;P31327	.;CPSM_HUMAN	C	667;669;661;210	ENSP00000402608:G667C;ENSP00000233072:G661C;ENSP00000406136:G210C	ENSP00000233072:G661C	G	+	1	0	CPS1	211178215	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.636000	0.89361	0.585000	0.79938	GGT		0.373	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	7	91	1	0	2.0095e-06	1	2.31757e-06	7	91				
PHF20L1	51105	broad.mit.edu	37	8	133854893	133854893	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854893A>C	ENST00000395386.2	+	19	2820	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	PHF20L1_ENST00000395390.2_Missense_Mutation_p.N816H|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.N228H|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	841							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATATGTACAGAACCATAAAGA	0.383																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(2521-2523)Aac>Cac		PHD finger protein 20-like 1							56.0	53.0	54.0					8																	133854893		1827	4083	5910	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133854893A>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2521A>C	8.37:g.133854893A>C	ENSP00000378784:p.Asn841His					PHF20L1_ENST00000395390.2_Missense_Mutation_p.N816H|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.N228H	p.N841H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	2820	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		841					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2521A>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	13.64	2.298037	0.40694	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.34072	1.39;1.38	5.11	3.86	0.44501	.	0.212263	0.30269	U	0.010013	T	0.45716	0.1356	M	0.63843	1.955	0.26988	N	0.965201	P;P	0.50528	0.936;0.894	P;P	0.53809	0.735;0.548	T	0.32455	-0.9906	10	0.45353	T	0.12	-29.2896	10.3696	0.44046	0.8535:0.0:0.0:0.1465	.	816;841	F8W9L8;A8MW92	.;P20L1_HUMAN	H	841;228;816	ENSP00000378784:N841H;ENSP00000378788:N816H	ENSP00000220847:N228H	N	+	1	0	PHF20L1	133924075	1.000000	0.71417	0.710000	0.30468	0.420000	0.31355	3.680000	0.54641	2.054000	0.61138	0.528000	0.53228	AAC		0.383	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		17	32	0	0	0	1	0	17	32				
RYR3	6263	broad.mit.edu	37	15	34078053	34078053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34078053G>A	ENST00000389232.4	+	66	9529	c.9459G>A	c.(9457-9459)ctG>ctA	p.L3153L	RYR3_ENST00000415757.3_Silent_p.L3153L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCA	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9457-9459)ctG>ctA		ryanodine receptor 3							151.0	168.0	162.0					15																	34078053		2153	4264	6417	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078053G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9459G>A	15.37:g.34078053G>A						RYR3_ENST00000415757.3_Silent_p.L3153L	p.L3153L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9529	+		all_lung(180;7.18e-09)	3153					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9459G>A	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	180	0	0	0	1	0	11	180				
FUBP1	8880	broad.mit.edu	37	1	78430754	78430754	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78430754T>G	ENST00000370768.2	-	8	716	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	FUBP1_ENST00000370767.1_Splice_Site_p.Q212P|FUBP1_ENST00000436586.2_Splice_Site_p.Q233P	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	212	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACAATACCTGAAGCTGTTT	0.363			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e8+1		far upstream element (FUSE) binding protein 1							158.0	161.0	160.0					1																	78430754		2203	4300	6503	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430754T>G	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.636+1A>C	1.37:g.78430754T>G						FUBP1_ENST00000370768.2_Splice_Site_p.Q212_splice|FUBP1_ENST00000436586.2_Splice_Site_p.Q233_splice	p.Q212_splice			Q96AE4	FUBP1_HUMAN			8	722	-			212			KH 2.		Q12828	Splice_Site	SNP	ENST00000370768.2	37	c.636_splice	CCDS683.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409751	0.83340	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.59	5.59	0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.995;1.0	T	0.83039	-0.0158	10	0.87932	D	0	-4.0111	16.053	0.80775	0.0:0.0:0.0:1.0	.	233;212	B4DT31;Q96AE4	.;FUBP1_HUMAN	P	211;212;212;211;233;232	ENSP00000359803:Q212P;ENSP00000359804:Q212P;ENSP00000389536:Q233P;ENSP00000402630:Q232P	ENSP00000294623:Q211P	Q	-	2	0	FUBP1	78203342	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.997000	0.88414	2.246000	0.74042	0.528000	0.53228	CAG		0.363	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Missense_Mutation	11	202	0	0	0	1	0	11	202				
SI	6476	broad.mit.edu	37	3	164700137	164700137	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164700137C>A	ENST00000264382.3	-	47	5371	c.5309G>T	c.(5308-5310)gGa>gTa	p.G1770V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1770	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATGAAGGGATCCAAGCCTCGT	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(5308-5310)gGa>gTa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						130.0	125.0	127.0					3																	164700137		2202	4300	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164700137C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5309G>T	3.37:g.164700137C>A	ENSP00000264382:p.Gly1770Val	HNSCC(35;0.089)					p.G1770V	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			47	5371	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1770			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5309G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230013	0.39399	.	.	ENSG00000090402	ENST00000264382	D	0.88741	-2.42	4.56	4.56	0.56223	.	0.118780	0.56097	D	0.000034	D	0.92802	0.7711	M	0.86178	2.8	0.58432	D	0.999999	D	0.63880	0.993	P	0.55345	0.774	D	0.93503	0.6846	10	0.66056	D	0.02	.	13.0001	0.58670	0.0:1.0:0.0:0.0	.	1770	P14410	SUIS_HUMAN	V	1770	ENSP00000264382:G1770V	ENSP00000264382:G1770V	G	-	2	0	SI	166182831	0.986000	0.35501	0.813000	0.32504	0.006000	0.05464	3.616000	0.54174	2.518000	0.84900	0.591000	0.81541	GGA		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	37	1	0	0.00400662	1	0.00423533	17	37				
RASGRF1	5923	broad.mit.edu	37	15	79317730	79317730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79317730G>A	ENST00000419573.3	-	10	1742	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R490*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	490	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCACTGTCGCTCGCCCTCT	0.557																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1468-1470)Cga>Tga		Ras protein-specific guanine nucleotide-releasing factor 1							78.0	76.0	77.0					15																	79317730		2196	4293	6489	SO:0001587	stop_gained	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79317730G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1468C>T	15.37:g.79317730G>A	ENSP00000405963:p.Arg490*					RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R490*	p.R490*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			10	1742	-			490			PH 2.		F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	ENST00000419573.3	37	c.1468C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	40	8.037033	0.98621	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.36	2.27	0.28462	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8409	0.46715	0.0:0.0:0.6493:0.3507	.	.	.	.	X	490	.	ENSP00000378224:R490X	R	-	1	2	RASGRF1	77104785	0.990000	0.36364	0.937000	0.37676	0.895000	0.52256	0.578000	0.23773	1.019000	0.39547	0.585000	0.79938	CGA		0.557	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		47	68	0	0	0	1	0	47	68				
FSHR	2492	broad.mit.edu	37	2	49190103	49190103	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190103G>T	ENST00000406846.2	-	10	1976	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	FSHR_ENST00000541117.1_Silent_p.S355S|FSHR_ENST00000346173.3_Silent_p.S557S|FSHR_ENST00000304421.4_Silent_p.S593S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	619					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGTTGGCACAGGAGTTGATGG	0.473									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1855-1857)tcC>tcA		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						78.0	81.0	80.0					2																	49190103		2203	4300	6503	SO:0001819	synonymous_variant	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190103G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1857C>A	2.37:g.49190103G>T						FSHR_ENST00000541117.1_Silent_p.S355S|FSHR_ENST00000346173.3_Silent_p.S557S|FSHR_ENST00000304421.4_Silent_p.S593S	p.S619S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1976	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	619					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1857C>A	CCDS1843.1																																																																																				0.473	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			23	22	1	0	2.27731e-05	1	2.56123e-05	23	22				
NCAPG2	54892	broad.mit.edu	37	7	158454972	158454972	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158454972T>C	ENST00000409423.1	-	17	2075	c.1903A>G	c.(1903-1905)Aga>Gga	p.R635G	NCAPG2_ENST00000275830.10_Missense_Mutation_p.R427G|NCAPG2_ENST00000409339.3_Missense_Mutation_p.R635G|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R635G|NCAPG2_ENST00000541468.1_Missense_Mutation_p.R136G|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R635G	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	635					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCCATACTTCTGTCAATACTT	0.353																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1903-1905)Aga>Gga		non-SMC condensin II complex, subunit G2							77.0	73.0	74.0					7																	158454972		1832	4092	5924	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158454972T>C	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1903A>G	7.37:g.158454972T>C	ENSP00000386569:p.Arg635Gly					NCAPG2_ENST00000356309.3_Missense_Mutation_p.R635G|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R427G|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R635G|NCAPG2_ENST00000541468.1_Missense_Mutation_p.R136G|NCAPG2_ENST00000409423.1_Missense_Mutation_p.R635G	p.R635G			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	16	2016	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	635					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1903A>G	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	T	9.764	1.170847	0.21621	.	.	ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.52;1.51;1.51	6.17	2.38	0.29361	.	0.127124	0.64402	N	0.000001	T	0.25494	0.0620	L	0.51422	1.61	0.27105	N	0.962528	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.18745	-1.0327	10	0.54805	T	0.06	-14.3694	7.7952	0.29143	0.0:0.0701:0.2598:0.6701	.	635;427;635	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	G	136;635;635;427;635;635	ENSP00000442337:R136G;ENSP00000348657:R635G;ENSP00000386569:R635G;ENSP00000275830:R427G;ENSP00000387007:R635G;ENSP00000388326:R635G	ENSP00000275830:R427G	R	-	1	2	NCAPG2	158147733	0.991000	0.36638	0.024000	0.17045	0.110000	0.19582	2.255000	0.43222	0.159000	0.19401	0.533000	0.62120	AGA		0.353	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		4	76	0	0	0	1	0	4	76				
CCDC54	84692	broad.mit.edu	37	3	107096457	107096457	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:107096457G>T	ENST00000261058.1	+	1	270	c.23G>T	c.(22-24)aGg>aTg	p.R8M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACACCAAAAGGGTAAAAGCT	0.398																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(22-24)aGg>aTg		coiled-coil domain containing 54							96.0	96.0	96.0					3																	107096457		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107096457G>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.23G>T	3.37:g.107096457G>T	ENSP00000261058:p.Arg8Met						p.R8M	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	270	+			8					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.23G>T	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128617	0.37533	.	.	ENSG00000138483	ENST00000261058	T	0.55413	0.52	5.55	3.75	0.43078	.	0.390712	0.21510	N	0.073396	T	0.60843	0.2300	L	0.47190	1.495	0.28518	N	0.913219	D	0.89917	1.0	D	0.70935	0.971	T	0.54603	-0.8269	10	0.72032	D	0.01	-4.0552	7.4861	0.27435	0.1901:0.0:0.8099:0.0	.	8	Q8NEL0	CCD54_HUMAN	M	8	ENSP00000261058:R8M	ENSP00000261058:R8M	R	+	2	0	CCDC54	108579147	0.073000	0.21202	0.803000	0.32268	0.140000	0.21249	1.463000	0.35277	1.344000	0.45657	0.591000	0.81541	AGG		0.398	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		15	68	1	0	1.62849e-17	1	2.11374e-17	15	68				
NID2	22795	broad.mit.edu	37	14	52535644	52535644	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52535644C>T	ENST00000216286.5	-	1	68	c.69G>A	c.(67-69)ttG>ttA	p.L23L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	23					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAACATTAGCAACGGCAGCA	0.687																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(67-69)ttG>ttA		nidogen 2 (osteonidogen)							48.0	45.0	46.0					14																	52535644		2203	4299	6502	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52535644C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.69G>A	14.37:g.52535644C>T						NID2_ENST00000541773.1_Intron	p.L23L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			1	68	-	Breast(41;0.0639)|all_epithelial(31;0.123)		23					A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.69G>A	CCDS9706.1																																																																																				0.687	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			5	35	0	0	0	1	0	5	35				
MTA1	9112	broad.mit.edu	37	14	105930811	105930811	+	Silent	SNP	C	C	T	rs139203829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105930811C>T	ENST00000331320.7	+	14	1465	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	MTA1_ENST00000405646.1_Silent_p.C400C|MTA1_ENST00000406191.1_Silent_p.C417C|MTA1_ENST00000435036.2_5'UTR	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	417					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCGTCTCTGCGCATCTTGTT	0.483																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(1249-1251)tgC>tgT		metastasis associated 1		C	CYS/ARG,	0,4406		0,0,2203	118.0	111.0	113.0		1204,1251	2.6	1.0	14	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense,coding-synonymous	MTA1	NM_001203258.1,NM_004689.3	180,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	402/431,417/716	105930811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105930811C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1251C>T	14.37:g.105930811C>T						MTA1_ENST00000405646.1_Silent_p.C400C|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Silent_p.C417C	p.C417C	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	14	1465	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	417					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	c.1251C>T	CCDS32169.1																																																																																				0.483	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			34	34	0	0	0	1	0	34	34				
ZNF791	163049	broad.mit.edu	37	19	12738674	12738674	+	Missense_Mutation	SNP	C	C	T	rs550239715	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738674C>T	ENST00000343325.4	+	4	493	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.R79C|ZNF791_ENST00000540038.1_Missense_Mutation_p.R2C|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGCCTTCATGCGTCTCTCATC	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		19036	0.002		0.0	False		,,,				2504	0.0					ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(331-333)Cgt>Tgt		zinc finger protein 791							153.0	147.0	149.0					19																	12738674		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738674C>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.331C>T	19.37:g.12738674C>T	ENSP00000342974:p.Arg111Cys					ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.R79C|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R2C	p.R111C	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	493	+			111					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.331C>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	4.275	0.050218	0.08243	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.16073	3.13;3.13;2.37	1.55	-3.1	0.05315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	L	0.27975	0.815	0.09310	N	1	D	0.56968	0.978	B	0.39904	0.313	T	0.24261	-1.0165	9	0.31617	T	0.26	.	3.9868	0.09519	0.4259:0.3895:0.1846:0.0	.	111	Q3KP31	ZN791_HUMAN	C	111;111;79;2	ENSP00000342974:R111C;ENSP00000441761:R79C;ENSP00000441038:R2C	ENSP00000342974:R111C	R	+	1	0	ZNF791	12599674	0.000000	0.05858	0.008000	0.14137	0.073000	0.16967	-1.623000	0.02040	-0.628000	0.05582	0.491000	0.48974	CGT		0.423	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		42	85	0	0	0	1	0	42	85				
GML	2765	broad.mit.edu	37	8	143922552	143922552	+	Missense_Mutation	SNP	G	G	A	rs45437692		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143922552G>A	ENST00000220940.1	+	3	182	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	31	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGTTTGAGATGCCATGACTGT	0.478																																						ENST00000220940.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(91-93)tGc>tAc		glycosylphosphatidylinositol anchored molecule like							178.0	143.0	155.0					8																	143922552		2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143922552G>A	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.92G>A	8.37:g.143922552G>A	ENSP00000220940:p.Cys31Tyr						p.C31Y	NM_002066.2	NP_002057.1	Q99445	GML_HUMAN			3	182	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		31			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.92G>A	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	13.64	2.297094	0.40694	.	.	ENSG00000104499	ENST00000522728;ENST00000220940	D;D	0.94046	-3.34;-3.34	3.43	3.43	0.39272	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	0.000000	0.45606	D	0.000350	D	0.95156	0.8430	L	0.61218	1.895	0.25928	N	0.983033	D	0.89917	1.0	D	0.87578	0.998	D	0.88435	0.3038	10	0.87932	D	0	-12.5545	10.6371	0.45571	0.0:0.0:1.0:0.0	.	31	Q99445	GML_HUMAN	Y	31	ENSP00000430799:C31Y;ENSP00000220940:C31Y	ENSP00000220940:C31Y	C	+	2	0	GML	143919554	0.016000	0.18221	0.250000	0.24296	0.006000	0.05464	0.973000	0.29422	2.196000	0.70406	0.650000	0.86243	TGC		0.478	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		25	43	0	0	0	1	0	25	43				
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T	rs535254738		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(1021-1023)Gtc>Atc		ring finger and WD repeat domain 3							222.0	193.0	203.0					16																	74678318		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678318C>T	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1021G>A	16.37:g.74678318C>T	ENSP00000354361:p.Val341Ile					RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			6	1118	-			341					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.1021G>A	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398256	0.62177	.	.	ENSG00000168411	ENST00000361070	T	0.18338	2.22	5.93	5.93	0.95920	.	0.214399	0.39759	N	0.001263	T	0.24431	0.0592	M	0.64260	1.97	0.50039	D	0.999847	P	0.51791	0.948	B	0.41813	0.367	T	0.01111	-1.1448	10	0.39692	T	0.17	-17.5372	20.328	0.98708	0.0:1.0:0.0:0.0	.	341	Q6PCD5	RFWD3_HUMAN	I	341	ENSP00000354361:V341I	ENSP00000354361:V341I	V	-	1	0	RFWD3	73235819	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	2.167000	0.42415	2.802000	0.96397	0.561000	0.74099	GTC		0.458	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		54	93	0	0	0	1	0	54	93				
GRIK3	2899	broad.mit.edu	37	1	37271833	37271833	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37271833G>A	ENST00000373091.3	-	14	2202	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A729V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	729					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGCCGTCAGGGCCCTCTGGAT	0.597																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(2185-2187)gCc>gTc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						155.0	126.0	136.0					1																	37271833		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271833G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2186C>T	1.37:g.37271833G>A	ENSP00000362183:p.Ala729Val					GRIK3_ENST00000373093.4_Missense_Mutation_p.A729V	p.A729V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			14	2202	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	729					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2186C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.532074	0.13127	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.07327	3.2;3.2	5.48	5.48	0.80851	Ionotropic glutamate receptor (2);	0.550760	0.19678	N	0.108595	T	0.01940	0.0061	N	0.00256	-1.76	0.24795	N	0.99274	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.32929	-0.9888	10	0.02654	T	1	.	12.6576	0.56795	0.0758:0.0:0.9242:0.0	.	729;729	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	729	ENSP00000362183:A729V;ENSP00000362185:A729V	ENSP00000362183:A729V	A	-	2	0	GRIK3	37044420	1.000000	0.71417	0.853000	0.33588	0.864000	0.49448	6.207000	0.72159	2.566000	0.86566	0.549000	0.68633	GCC		0.597	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		24	54	0	0	0	1	0	24	54				
VPS54	51542	broad.mit.edu	37	2	64148459	64148459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64148459C>A	ENST00000272322.4	-	13	1904	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	VPS54_ENST00000409558.4_Missense_Mutation_p.D572Y|VPS54_ENST00000354504.3_Missense_Mutation_p.D431Y			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	584					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AATTTCATATCTTCACTGACC	0.343																																						ENST00000354504.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1291-1293)Gat>Tat		vacuolar protein sorting 54 homolog (S. cerevisiae)							48.0	50.0	49.0					2																	64148459		2203	4299	6502	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64148459C>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1750G>T	2.37:g.64148459C>A	ENSP00000272322:p.Asp584Tyr					VPS54_ENST00000272322.4_Missense_Mutation_p.D584Y|VPS54_ENST00000409558.3_Missense_Mutation_p.D572Y	p.D431Y			Q9P1Q0	VPS54_HUMAN			10	1880	-			584					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.1291G>T	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908704	0.72868	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.35789	1.29;1.34;1.34	5.8	5.8	0.92144	.	0.196582	0.53938	D	0.000055	T	0.52901	0.1763	L	0.54323	1.7	0.54753	D	0.999982	D;D;D	0.61080	0.989;0.98;0.989	P;P;P	0.56700	0.8;0.642;0.804	T	0.50617	-0.8807	10	0.62326	D	0.03	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	431;584;572	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	Y	431;584;572;572;584	ENSP00000346499:D431Y;ENSP00000272322:D584Y;ENSP00000386980:D572Y	ENSP00000272322:D584Y	D	-	1	0	VPS54	64001963	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.561000	0.67339	2.748000	0.94277	0.655000	0.94253	GAT		0.343	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		6	43	1	0	3.59834e-05	1	4.01776e-05	6	43				
RPL31P11	641311	broad.mit.edu	37	1	161654774	161654774	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161654774C>A	ENST00000426558.1	-	0	268					NR_002595.1				ribosomal protein L31 pseudogene 11																		CATTCTTATTCCTTTGGCCCA	0.473																																						ENST00000426558.1																			0																																																			0							g.chr1:161654774C>A			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654774C>A								NR_002595.1						0	268	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.473	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		3	21	1	0	2.56e-06	1	2.9446e-06	3	21				
KDM5A	5927	broad.mit.edu	37	12	459813	459813	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:459813G>A	ENST00000399788.2	-	10	1644	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R428W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	428					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCTTTCTCCGCCCATCCTTC	0.428			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1282-1284)Cgg>Tgg		lysine (K)-specific demethylase 5A							96.0	90.0	92.0					12																	459813		1859	4096	5955	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:459813G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1282C>T	12.37:g.459813G>A	ENSP00000382688:p.Arg428Trp					KDM5A_ENST00000382815.4_Missense_Mutation_p.R428W	p.R428W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			10	1644	-			428					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.1282C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.882975	0.72410	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.85629	-2.01;-1.8	5.68	3.71	0.42584	.	0.311287	0.35677	N	0.003059	D	0.88948	0.6576	M	0.64404	1.975	0.35991	D	0.836702	D;D;D	0.76494	0.973;0.997;0.999	D;P;D	0.63283	0.913;0.821;0.913	D	0.91626	0.5315	10	0.72032	D	0.01	-4.0013	10.7982	0.46472	0.0:0.1262:0.6131:0.2607	.	428;428;428	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	W	387;428;428	ENSP00000382688:R428W;ENSP00000372265:R428W	ENSP00000372265:R428W	R	-	1	2	KDM5A	330074	0.083000	0.21467	0.976000	0.42696	0.957000	0.61999	1.388000	0.34442	1.371000	0.46172	0.655000	0.94253	CGG		0.428	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		23	49	0	0	0	1	0	23	49				
ADAMTSL1	92949	broad.mit.edu	37	9	18889718	18889718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18889718G>A	ENST00000380548.4	+	25	4954	c.4615G>A	c.(4615-4617)Gcg>Acg	p.A1539T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A240T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1539						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAGCCCATCGCGTGCAACCG	0.667																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(4615-4617)Gcg>Acg		ADAMTS-like 1							22.0	27.0	25.0					9																	18889718		2109	4225	6334	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18889718G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4615G>A	9.37:g.18889718G>A	ENSP00000369921:p.Ala1539Thr					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A240T	p.A1539T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	25	4954	+			1539					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4615G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500703	0.44455	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541;ENST00000380538	T;T;T	0.61040	0.14;0.14;0.14	5.6	3.73	0.42828	.	0.266310	0.36854	N	0.002363	T	0.47544	0.1451	L	0.45422	1.42	0.36540	D	0.87126	P;P	0.49961	0.921;0.93	B;B	0.38985	0.273;0.287	T	0.52741	-0.8535	10	0.20046	T	0.44	.	16.4367	0.83878	0.0:0.2482:0.7518:0.0	.	240;1539	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	T	1539;240;243;243;141	ENSP00000369921:A1539T;ENSP00000369918:A240T;ENSP00000369911:A141T	ENSP00000325584:A243T	A	+	1	0	ADAMTSL1	18879718	0.993000	0.37304	0.639000	0.29394	0.174000	0.22865	2.338000	0.43957	0.822000	0.34565	0.650000	0.86243	GCG		0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			9	11	0	0	0	1	0	9	11				
RPP21	79897	broad.mit.edu	37	6	30313002	30313002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30313002C>A	ENST00000442966.2	+	1	67	c.54C>A	c.(52-54)taC>taA	p.Y18*	TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000436442.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000433076.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000428040.2_Nonsense_Mutation_p.Y18*			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	18					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						ACTTCCTGTACCAGGTGAGTC	0.711																																						ENST00000428040.2																			0				endometrium(2)|ovary(1)|prostate(1)	4						c.(52-54)taC>taA		ribonuclease P/MRP 21kDa subunit							18.0	21.0	20.0					6																	30313002		2201	4298	6499	SO:0001587	stop_gained	79897							g.chr6:30313002C>A	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"""chromosome 6 open reading frame 135"", ""ribonuclease P 21kDa subunit"""	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.54C>A	6.37:g.30313002C>A	ENSP00000403833:p.Tyr18*					TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000436442.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000442966.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000433076.2_Nonsense_Mutation_p.Y18*	p.Y18*							1	67	+								A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Nonsense_Mutation	SNP	ENST00000442966.2	37	c.54C>A	CCDS4679.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856389	0.71834	.	.	ENSG00000241370	ENST00000433076;ENST00000442966;ENST00000428040;ENST00000436442	.	.	.	5.58	3.81	0.43845	.	0.065972	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.7437	8.9462	0.35760	0.0:0.828:0.0:0.172	.	.	.	.	X	18	.	ENSP00000394320:Y18X	Y	+	3	2	RPP21	30420981	0.998000	0.40836	0.999000	0.59377	0.037000	0.13140	0.804000	0.27098	0.729000	0.32403	-0.150000	0.13652	TAC		0.711	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		4	4	1	0	0.00909568	1	0.00947522	4	4				
AGFG2	3268	broad.mit.edu	37	7	100160220	100160220	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100160220C>A	ENST00000300176.4	+	8	1124	c.1002C>A	c.(1000-1002)ctC>ctA	p.L334L	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	334					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTAGCCTCTTCGGGATGG	0.642																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1000-1002)ctC>ctA		ArfGAP with FG repeats 2							43.0	40.0	41.0					7																	100160220		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100160220C>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1002C>A	7.37:g.100160220C>A						AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	p.L334L	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			8	1124	+			334					O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.1002C>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	1.171	-0.640962	0.03557	.	.	ENSG00000106351	ENST00000429987	.	.	.	5.0	2.19	0.27852	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-36.2831	5.2752	0.15645	0.0:0.6476:0.1646:0.1878	.	.	.	.	Y	76	.	.	S	+	2	0	AGFG2	99998156	0.933000	0.31639	0.973000	0.42090	0.102000	0.19082	0.478000	0.22212	0.268000	0.21939	-0.368000	0.07277	TCT		0.642	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		5	39	1	0	0.0215528	1	0.0221649	5	39				
EDF1	8721	broad.mit.edu	37	9	139758285	139758285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139758285C>A	ENST00000224073.1	-	2	144	c.117G>T	c.(115-117)gaG>gaT	p.E39D	EDF1_ENST00000371649.1_Missense_Mutation_p.E39D|EDF1_ENST00000371648.4_Missense_Mutation_p.E39D	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	39	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTTGGAAGTCTCCACATCTT	0.507																																						ENST00000371648.4																			0				lung(1)	1						c.(115-117)gaG>gaT		endothelial differentiation-related factor 1							257.0	215.0	229.0					9																	139758285		2203	4300	6503	SO:0001583	missense	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139758285C>A	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.117G>T	9.37:g.139758285C>A	ENSP00000224073:p.Glu39Asp					EDF1_ENST00000371649.1_Missense_Mutation_p.E39D|EDF1_ENST00000224073.1_Missense_Mutation_p.E39D	p.E39D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	2	124	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	39			Interaction with NR5A2, PPARG and NR1H3.		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.117G>T	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686562	0.29962	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.44	4.55	0.56014	Multiprotein bridging factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	N	0.11927	0.2	0.58432	D	0.999999	B;B	0.10296	0.002;0.003	B;B	0.19666	0.024;0.026	T	0.13953	-1.0490	9	0.19147	T	0.46	-12.9865	11.5771	0.50869	0.0:0.8511:0.0:0.1489	.	39;39	O60869-2;O60869	.;EDF1_HUMAN	D	39	.	ENSP00000224073:E39D	E	-	3	2	EDF1	138878106	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.484000	0.35508	1.300000	0.44818	-0.137000	0.14449	GAG		0.507	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			7	62	1	0	5.18039e-06	1	5.91835e-06	7	62				
TAF6	6878	broad.mit.edu	37	7	99711303	99711303	+	Missense_Mutation	SNP	C	C	A	rs374236355		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99711303C>A	ENST00000344095.4	-	4	858	c.333G>T	c.(331-333)gaG>gaT	p.E111D	TAF6_ENST00000452041.1_Missense_Mutation_p.E111D|TAF6_ENST00000497233.1_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_Missense_Mutation_p.E54D|TAF6_ENST00000472509.1_Missense_Mutation_p.E168D|TAF6_ENST00000453269.2_Missense_Mutation_p.E111D|TAF6_ENST00000437822.2_Missense_Mutation_p.E148D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	111					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGATCAACCTCCTTCTCCT	0.612																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(331-333)gaG>gaT		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							72.0	74.0	73.0					7																	99711303		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711303C>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.333G>T	7.37:g.99711303C>A	ENSP00000344537:p.Glu111Asp					TAF6_ENST00000472509.1_Missense_Mutation_p.E168D|TAF6_ENST00000418432.2_Missense_Mutation_p.E54D|TAF6_ENST00000452041.1_Missense_Mutation_p.E111D|TAF6_ENST00000437822.2_Missense_Mutation_p.E148D|TAF6_ENST00000453269.2_Missense_Mutation_p.E111D	p.E111D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			4	858	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		111					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.333G>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631457	0.46944	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822;ENST00000493322;ENST00000440225;ENST00000452438;ENST00000523306;ENST00000449571;ENST00000520135;ENST00000451699	T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.34;0.31;0.34;0.34;0.32;0.48;0.4;0.53;0.59;0.55;0.49;0.49	5.58	2.79	0.32731	.	0.264946	0.40302	N	0.001135	T	0.56819	0.2011	M	0.63428	1.95	0.44462	D	0.997392	B;B;B;B;B;B	0.33238	0.039;0.087;0.02;0.038;0.403;0.068	B;B;B;B;B;B	0.41412	0.071;0.143;0.043;0.136;0.356;0.043	T	0.49960	-0.8883	10	0.36615	T	0.2	-10.9705	8.7179	0.34423	0.0:0.7466:0.0:0.2534	.	148;111;101;111;111;54	B4DT11;P49848-2;A4D299;P49848;C9JTY6;B3KUR4	.;.;.;TAF6_HUMAN;.;.	D	111;168;111;111;54;148;111;111;111;101;111;101;111	ENSP00000389575:E111D;ENSP00000419760:E168D;ENSP00000416396:E111D;ENSP00000344537:E111D;ENSP00000399982:E148D;ENSP00000419555:E111D;ENSP00000410012:E111D;ENSP00000412346:E111D;ENSP00000428639:E101D;ENSP00000390073:E111D;ENSP00000428071:E101D;ENSP00000406315:E111D	ENSP00000344537:E111D	E	-	3	2	TAF6	99549239	0.991000	0.36638	1.000000	0.80357	0.986000	0.74619	0.216000	0.17585	0.302000	0.22762	-0.230000	0.12252	GAG		0.612	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		4	74	1	0	0.00909568	1	0.00947522	4	74				
CSNK2A1	1457	broad.mit.edu	37	20	469369	469369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:469369G>A	ENST00000217244.3	-	11	1152	c.777C>T	c.(775-777)gaC>gaT	p.D259D	CSNK2A1_ENST00000400227.3_Silent_p.D259D|CSNK2A1_ENST00000349736.5_Silent_p.D259D|CSNK2A1_ENST00000400217.2_Silent_p.D123D	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGTTGTATTTGTCAATATAGT	0.348																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(775-777)gaC>gaT		casein kinase 2, alpha 1 polypeptide							143.0	131.0	135.0					20																	469369		2203	4300	6503	SO:0001819	synonymous_variant	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:469369G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.777C>T	20.37:g.469369G>A						CSNK2A1_ENST00000349736.5_Silent_p.D259D|CSNK2A1_ENST00000400227.3_Silent_p.D259D|CSNK2A1_ENST00000400217.1_Silent_p.D123D	p.D259D	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		11	1152	-		Breast(17;0.231)	259			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Silent	SNP	ENST00000217244.3	37	c.777C>T	CCDS13003.1																																																																																				0.348	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		15	85	0	0	0	1	0	15	85				
SFMBT2	57713	broad.mit.edu	37	10	7212972	7212972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7212972G>A	ENST00000361972.4	-	20	2552	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P821L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	821					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACTCCAACGGGTTGCTCTC	0.592																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2461-2463)cCg>cTg		Scm-like with four mbt domains 2							253.0	222.0	233.0					10																	7212972		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7212972G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2462C>T	10.37:g.7212972G>A	ENSP00000355109:p.Pro821Leu					SFMBT2_ENST00000397167.1_Missense_Mutation_p.P821L	p.P821L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			20	2552	-			821					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2462C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411002	0.83340	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.42131	0.98;0.98	5.09	4.18	0.49190	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69281	-0.5186	10	0.72032	D	0.01	.	15.8502	0.78924	0.0:0.1362:0.8638:0.0	.	821	Q5VUG0	SMBT2_HUMAN	L	821	ENSP00000355109:P821L;ENSP00000380353:P821L	ENSP00000355109:P821L	P	-	2	0	SFMBT2	7252978	1.000000	0.71417	0.850000	0.33497	0.953000	0.61014	9.651000	0.98493	1.260000	0.44134	-0.315000	0.08773	CCG		0.592	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		32	79	0	0	0	1	0	32	79				
TM2D1	83941	broad.mit.edu	37	1	62190778	62190778	+	Nonsense_Mutation	SNP	C	C	T	rs370934266		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62190778C>T	ENST00000606498.1	-	1	35	c.15G>A	c.(13-15)tgG>tgA	p.W5*	TM2D1_ENST00000371177.2_Nonsense_Mutation_p.W5*|TM2D1_ENST00000294613.5_Nonsense_Mutation_p.W5*|TM2D1_ENST00000371180.2_Nonsense_Mutation_p.W67*			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						GACCAGACGGCCAGGCGGCCG	0.652																																						ENST00000371177.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(13-15)tgG>tgA		TM2 domain containing 1							35.0	41.0	39.0					1																	62190778		1910	4091	6001	SO:0001587	stop_gained	83941				apoptosis			g.chr1:62190778C>T	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.15G>A	1.37:g.62190778C>T	ENSP00000475700:p.Trp5*					TM2D1_ENST00000294613.5_Nonsense_Mutation_p.W5*|TM2D1_ENST00000371180.2_Nonsense_Mutation_p.W67*|TM2D1_ENST00000606498.1_Nonsense_Mutation_p.W5*	p.W5*			Q9BX74	TM2D1_HUMAN			1	27	-			5					A6NDA8	Nonsense_Mutation	SNP	ENST00000606498.1	37	c.15G>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.668607	0.88348	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.69	1.54	0.23209	.	1.041710	0.07590	N	0.921834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.1902	3.0094	0.06039	0.1836:0.5402:0.1779:0.0983	.	.	.	.	X	67;5;5;5	.	ENSP00000294613:W5X	W	-	3	0	TM2D1	61963366	0.080000	0.21391	0.020000	0.16555	0.033000	0.12548	0.697000	0.25556	0.680000	0.31366	0.462000	0.41574	TGG		0.652	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		17	28	0	0	0	1	0	17	28				
RBMX2	51634	broad.mit.edu	37	X	129546780	129546780	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129546780G>T	ENST00000305536.6	+	6	991	c.927G>T	c.(925-927)cgG>cgT	p.R309R		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	309	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074). {ECO:0000305}.			nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GACGCTCCCGGGAGCGGGAGT	0.458																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(925-927)cgG>cgT		RNA binding motif protein, X-linked 2							32.0	34.0	33.0					X																	129546780		1814	4069	5883	SO:0001819	synonymous_variant	51634						nucleotide binding|RNA binding	g.chrX:129546780G>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.927G>T	X.37:g.129546780G>T							p.R309R	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			6	991	+			309	SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).		Arg-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	ENST00000305536.6	37	c.927G>T	CCDS43993.1																																																																																				0.458	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		18	44	1	0	1.96292e-10	1	2.41709e-10	18	44				
BCL2L10	10017	broad.mit.edu	37	15	52402056	52402056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52402056G>A	ENST00000260442.3	-	2	652	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BCL2L10_ENST00000561198.1_Missense_Mutation_p.T225M	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	192					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CATAATAATCGTGTCCAGAGA	0.433																																						ENST00000260442.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(604-606)Cga>Tga		BCL2-like 10 (apoptosis facilitator)							165.0	184.0	178.0					15																	52402056		2195	4293	6488	SO:0001587	stop_gained	10017				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding	g.chr15:52402056G>A	AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000260442.3:c.604C>T	15.37:g.52402056G>A	ENSP00000260442:p.Arg202*					BCL2L10_ENST00000561198.1_Missense_Mutation_p.T225M	p.R202*	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN		all cancers(107;0.0148)	2	652	-			192					Q3SX80|Q52LQ9|Q8TCS9	Nonsense_Mutation	SNP	ENST00000260442.3	37	c.604C>T	CCDS10148.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111041	0.37242	.	.	ENSG00000137875	ENST00000260442	.	.	.	3.94	1.92	0.25849	.	3.279230	0.01203	N	0.007628	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.006	4.42	0.11476	0.1274:0.0:0.5899:0.2827	.	.	.	.	X	202	.	ENSP00000260442:R202X	R	-	1	2	BCL2L10	50189348	0.000000	0.05858	0.002000	0.10522	0.168000	0.22595	0.185000	0.16958	0.528000	0.28580	0.655000	0.94253	CGA		0.433	BCL2L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254843.1			102	151	0	0	0	1	0	102	151				
POMK	84197	broad.mit.edu	37	8	42977492	42977492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42977492G>A	ENST00000331373.5	+	5	780	c.525G>A	c.(523-525)tgG>tgA	p.W175*		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										TGAACACGTGGCAGCACAGGC	0.493																																						ENST00000331373.5																			0											c.(523-525)tgG>tgA									82.0	73.0	76.0					8																	42977492		2203	4300	6503	SO:0001587	stop_gained	0					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977492G>A		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.525G>A	8.37:g.42977492G>A	ENSP00000331258:p.Trp175*						p.W175*	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			5	780	+			175			Protein kinase.			Nonsense_Mutation	SNP	ENST00000331373.5	37	c.525G>A	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353174	0.95830	.	.	ENSG00000185900	ENST00000331373	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9115	17.3109	0.87210	0.0:0.0:1.0:0.0	.	.	.	.	X	175	.	.	W	+	3	0	AC113191.1	43096649	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.915000	0.92740	2.769000	0.95229	0.655000	0.94253	TGG		0.493	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		16	22	0	0	0	1	0	16	22				
HFM1	164045	broad.mit.edu	37	1	91731665	91731665	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91731665C>A	ENST00000370425.3	-	36	3982		c.e36-1		HFM1_ENST00000294696.5_Intron|HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000462405.1_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCCAAATCCTATGTGAAGA	0.373																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.e36-1		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							132.0	117.0	122.0					1																	91731665		1840	4084	5924	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91731665C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3884-1G>T	1.37:g.91731665C>A						HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Intron		NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	36	3982	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)						B1B0B6|Q8N9Q0	Splice_Site	SNP	ENST00000370425.3	37		CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718090	0.68844	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000430465	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5504	0.68061	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HFM1	91504253	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.140000	0.58031	2.581000	0.87130	0.655000	0.94253	.		0.373	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Intron	7	77	1	0	0.00198382	1	0.00210581	7	77				
MMRN1	22915	broad.mit.edu	37	4	90833185	90833185	+	Silent	SNP	G	G	A	rs193102697		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90833185G>A	ENST00000394980.1	+	4	1153	c.834G>A	c.(832-834)ccG>ccA	p.P278P	MMRN1_ENST00000394981.1_Silent_p.P244P|MMRN1_ENST00000508372.1_Silent_p.P20P|MMRN1_ENST00000264790.2_Silent_p.P278P			Q13201	MMRN1_HUMAN	multimerin 1	278	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACAGTGGGCCGAAATGTCAAC	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17362	0.0		0.0	False		,,,				2504	0.0					ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(832-834)ccG>ccA		multimerin 1							76.0	71.0	73.0					4																	90833185		2203	4299	6502	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90833185G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.834G>A	4.37:g.90833185G>A						MMRN1_ENST00000394981.1_Silent_p.P244P|MMRN1_ENST00000264790.2_Silent_p.P278P|MMRN1_ENST00000508372.1_Silent_p.P20P	p.P278P			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	4	1153	+		Hepatocellular(203;0.114)	278			EMI.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.834G>A	CCDS3635.1																																																																																				0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		14	27	0	0	0	1	0	14	27				
AHNAK	79026	broad.mit.edu	37	11	62292663	62292663	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292663C>A	ENST00000378024.4	-	5	9500	c.9226G>T	c.(9226-9228)Ggt>Tgt	p.G3076C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3076					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AATTTGGGACCTTTCAACTTT	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9226-9228)Ggt>Tgt		AHNAK nucleoprotein							174.0	183.0	180.0					11																	62292663		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292663C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9226G>T	11.37:g.62292663C>A	ENSP00000367263:p.Gly3076Cys					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G3076C	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9500	-		Melanoma(852;0.155)	3076					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9226G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	9.851	1.193575	0.22037	.	.	ENSG00000124942	ENST00000378024	T	0.03358	3.96	4.48	4.48	0.54585	.	.	.	.	.	T	0.28665	0.0710	H	0.96175	3.78	0.47778	D	0.999512	D	0.89917	1.0	D	0.79784	0.993	T	0.48864	-0.8997	9	0.44086	T	0.13	-7.7133	16.7427	0.85464	0.0:1.0:0.0:0.0	.	3076	Q09666	AHNK_HUMAN	C	3076	ENSP00000367263:G3076C	ENSP00000367263:G3076C	G	-	1	0	AHNAK	62049239	0.979000	0.34478	0.199000	0.23439	0.006000	0.05464	3.102000	0.50291	2.021000	0.59480	0.305000	0.20034	GGT		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		13	219	1	0	4.3838e-07	1	5.12524e-07	13	219				
SORCS3	22986	broad.mit.edu	37	10	106937890	106937890	+	Silent	SNP	C	C	T	rs372850065		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106937890C>T	ENST00000369701.3	+	14	2195	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	656					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.D656D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTTTGTTGACGGGGCTCTGG	0.473																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.D656D(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1966-1968)gaC>gaT		sortilin-related VPS10 domain containing receptor 3		C		0,4406		0,0,2203	209.0	178.0	189.0		1968	-7.2	0.1	10		189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SORCS3	NM_014978.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		656/1223	106937890	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937890C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1968C>T	10.37:g.106937890C>T						SORCS3_ENST00000369699.4_Intron	p.D656D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2195	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	656					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1968C>T	CCDS7558.1																																																																																				0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		14	21	0	0	0	1	0	14	21				
CNTN3	5067	broad.mit.edu	37	3	74344360	74344360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74344360G>T	ENST00000263665.6	-	18	2456	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	810	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCTATTTGCAGAGACTTGAGA	0.373																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2428-2430)tCt>tAt		contactin 3 (plasmacytoma associated)							97.0	90.0	92.0					3																	74344360		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74344360G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2429C>A	3.37:g.74344360G>T	ENSP00000263665:p.Ser810Tyr						p.S810Y	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2456	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	810			Fibronectin type-III 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2429C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	0.734	-0.778882	0.02929	.	.	ENSG00000113805	ENST00000263665	T	0.59906	0.23	5.63	-0.0307	0.13913	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.544663	0.21081	N	0.080497	T	0.45558	0.1348	L	0.56340	1.77	0.09310	N	1	B	0.24651	0.108	B	0.36335	0.222	T	0.40627	-0.9553	10	0.02654	T	1	.	5.8628	0.18759	0.3043:0.2448:0.4509:0.0	.	810	Q9P232	CNTN3_HUMAN	Y	810	ENSP00000263665:S810Y	ENSP00000263665:S810Y	S	-	2	0	CNTN3	74427050	0.006000	0.16342	0.129000	0.21949	0.992000	0.81027	1.098000	0.31000	0.051000	0.15978	-0.145000	0.13849	TCT		0.373	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		23	32	1	0	2.32416e-17	1	3.01417e-17	23	32				
NAGPA	51172	broad.mit.edu	37	16	5078081	5078081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5078081G>A	ENST00000312251.3	-	6	1045	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	NAGPA_ENST00000381955.3_Silent_p.D342D|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	342					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCAGTGCCCGTCCACGCAGG	0.672																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(1024-1026)gaC>gaT		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						24.0	24.0	24.0					16																	5078081		2197	4299	6496	SO:0001819	synonymous_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5078081G>A	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1026C>T	16.37:g.5078081G>A						RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.D342D	p.D342D	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			6	1045	-			342					B2RAS1|Q96EJ8	Silent	SNP	ENST00000312251.3	37	c.1026C>T	CCDS10527.1																																																																																				0.672	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		4	12	0	0	0	1	0	4	12				
ZNF674	641339	broad.mit.edu	37	X	46360572	46360572	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46360572C>A	ENST00000523374.1	-	6	662	c.452G>T	c.(451-453)aGg>aTg	p.R151M	ZNF674_ENST00000414387.2_Missense_Mutation_p.R145M|ZNF674_ENST00000518795.1_5'Flank	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TTTTGAACACCTTTCCCATGA	0.308																																						ENST00000523374.1																			0				breast(2)	2						c.(451-453)aGg>aTg		zinc finger protein 674							49.0	45.0	46.0					X																	46360572		2011	4198	6209	SO:0001583	missense	641339				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:46360572C>A	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.452G>T	X.37:g.46360572C>A	ENSP00000429148:p.Arg151Met					ZNF674_ENST00000414387.2_Missense_Mutation_p.R145M	p.R151M	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN			6	662	-			151					B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	c.452G>T	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	C	3.534	-0.095107	0.07010	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.04706	3.57;3.58	2.62	1.68	0.24146	.	.	.	.	.	T	0.04318	0.0119	L	0.34521	1.04	0.22701	N	0.998831	P;B	0.46327	0.876;0.391	B;B	0.40199	0.322;0.17	T	0.40059	-0.9583	9	0.72032	D	0.01	.	6.6025	0.22708	0.0:0.8191:0.0:0.1809	.	145;151	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	M	151;145	ENSP00000429148:R151M;ENSP00000428248:R145M	ENSP00000428248:R145M	R	-	2	0	ZNF674	46245516	0.000000	0.05858	0.593000	0.28771	0.190000	0.23558	-0.492000	0.06467	0.253000	0.21552	0.436000	0.28706	AGG		0.308	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891		3	31	1	0	0.115264	1	0.117355	3	31				
PRSS1	5644	broad.mit.edu	37	7	142460314	142460314	+	Missense_Mutation	SNP	G	G	A	rs557691366		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142460314G>A	ENST00000311737.7	+	4	493	c.487G>A	c.(487-489)Gct>Act	p.A163T	PRSS1_ENST00000486171.1_Missense_Mutation_p.A177T	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	163	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GTGCCTGGATGCTCCTGTGCT	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19750	0.0		0.0	False		,,,				2504	0.0					ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(529-531)Gct>Act		protease, serine, 1 (trypsin 1)							317.0	308.0	311.0					7																	142460314		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460314G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.487G>A	7.37:g.142460314G>A	ENSP00000308720:p.Ala163Thr					PRSS1_ENST00000311737.7_Missense_Mutation_p.A163T	p.A177T			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		5	546	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	163			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.529G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920684	0.17982	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.88354	-2.37;-2.37;-2.37	3.28	2.37	0.29283	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	N	0.04805	-0.155	0.33864	D	0.634122	B;B	0.27068	0.167;0.073	B;B	0.35240	0.198;0.195	T	0.77451	-0.2583	10	0.44086	T	0.13	.	10.1675	0.42888	0.1079:0.0:0.8921:0.0	.	177;163	E7EQ64;P07477	.;TRY1_HUMAN	T	177;163;153;113	ENSP00000417854:A177T;ENSP00000308720:A163T;ENSP00000419912:A113T	ENSP00000308720:A163T	A	+	1	0	PRSS1	142139888	0.989000	0.36119	0.003000	0.11579	0.003000	0.03518	5.648000	0.67930	0.663000	0.31027	0.398000	0.26397	GCT		0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			57	363	0	0	0	1	0	57	363				
NEBL	10529	broad.mit.edu	37	10	21120450	21120450	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21120450G>C	ENST00000377122.4	-	15	1908	c.1512C>G	c.(1510-1512)gaC>gaG	p.D504E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	504					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCAAGAGTGTCTGTGCTCA	0.418																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1510-1512)gaC>gaG		nebulette							179.0	165.0	170.0					10																	21120450		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21120450G>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1512C>G	10.37:g.21120450G>C	ENSP00000366326:p.Asp504Glu					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.D504E	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			15	1908	-			504					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1512C>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162755	0.38217	.	.	ENSG00000078114	ENST00000377122	T	0.63744	-0.06	5.54	-3.73	0.04398	.	0.107941	0.64402	N	0.000011	T	0.39410	0.1077	L	0.38649	1.16	0.58432	D	0.999999	B	0.15473	0.013	B	0.22152	0.038	T	0.04041	-1.0982	10	0.17832	T	0.49	.	3.6885	0.08338	0.5697:0.1219:0.1849:0.1235	.	504	O76041	NEBL_HUMAN	E	504	ENSP00000366326:D504E	ENSP00000366326:D504E	D	-	3	2	NEBL	21160456	0.220000	0.23631	0.021000	0.16686	0.987000	0.75469	-0.398000	0.07259	-0.321000	0.08627	0.591000	0.81541	GAC		0.418	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		3	52	0	0	0	1	0	3	52				
SH3BP5	9467	broad.mit.edu	37	3	15298412	15298412	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15298412G>A	ENST00000383791.3	-	8	1318	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	SH3BP5_ENST00000426925.1_Silent_p.G209G|SH3BP5_ENST00000408919.3_Silent_p.G209G|SH3BP5_ENST00000253688.5_Silent_p.G209G|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	366	Ser-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CACTTCGAGGGCCCAACACTG	0.597																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(1096-1098)ggC>ggT		SH3-domain binding protein 5 (BTK-associated)							57.0	50.0	52.0					3																	15298412		2203	4300	6503	SO:0001819	synonymous_variant	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15298412G>A	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.1098C>T	3.37:g.15298412G>A						SH3BP5_ENST00000426925.1_Silent_p.G209G|SH3BP5_ENST00000408919.3_Silent_p.G209G|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Silent_p.G209G	p.G366G	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			8	1318	-			366			Ser-rich.		B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	c.1098C>T	CCDS2625.2																																																																																				0.597	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		11	17	0	0	0	1	0	11	17				
ADAMDEC1	27299	broad.mit.edu	37	8	24250788	24250788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24250788C>T	ENST00000256412.4	+	3	441	c.221C>T	c.(220-222)cCt>cTt	p.P74L	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR|ADAMDEC1_ENST00000538205.1_5'UTR	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	74					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGTATGAACCTGAAGTTCAA	0.284																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000256412.4																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(220-222)cCt>cTt		ADAM-like, decysin 1							62.0	65.0	64.0					8																	24250788		2203	4298	6501	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24250788C>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.221C>T	8.37:g.24250788C>T	ENSP00000256412:p.Pro74Leu					ADAMDEC1_ENST00000538205.1_5'UTR|ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.P74L	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	3	441	+		Prostate(55;0.0181)	74					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.221C>T	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508130	0.44660	.	.	ENSG00000134028	ENST00000256412	T	0.05786	3.39	5.47	4.59	0.56863	Peptidase M12B, propeptide (1);	0.549899	0.17916	N	0.157678	T	0.08223	0.0205	L	0.41961	1.31	0.58432	D	0.999996	B	0.34399	0.452	B	0.36030	0.216	T	0.15578	-1.0432	10	0.56958	D	0.05	-0.9376	11.7802	0.52010	0.1755:0.8245:0.0:0.0	.	74	O15204	ADEC1_HUMAN	L	74	ENSP00000256412:P74L	ENSP00000256412:P74L	P	+	2	0	ADAMDEC1	24306733	0.118000	0.22208	0.355000	0.25773	0.506000	0.33950	0.820000	0.27323	1.296000	0.44742	0.563000	0.77884	CCT		0.284	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		12	36	0	0	0	1	0	12	36				
PCDHGB7	56099	broad.mit.edu	37	5	140797471	140797471	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140797471G>T	ENST00000398594.2	+	1	45	c.45G>T	c.(43-45)caG>caT	p.Q15H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	15					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gcccgcggcAGGTACTATTTC	0.642											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(43-45)caG>caT									24.0	26.0	25.0					5																	140797471		1880	4100	5980	SO:0001583	missense	0							g.chr5:140797471G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.45G>T	5.37:g.140797471G>T	ENSP00000381594:p.Gln15His		OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.Q15H	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	45	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.45G>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	15.93	2.978477	0.53720	.	.	ENSG00000254122	ENST00000398594	T	0.50548	0.74	5.92	1.7	0.24286	.	0.656995	0.11300	U	0.578295	T	0.41903	0.1179	N	0.08118	0	0.21697	N	0.999587	D;D	0.63046	0.992;0.975	P;P	0.61201	0.832;0.885	T	0.30357	-0.9981	10	0.48119	T	0.1	.	8.3589	0.32346	0.5251:0.0:0.4749:0.0	.	15;15	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	H	15	ENSP00000381594:Q15H	ENSP00000381594:Q15H	Q	+	3	2	PCDHGB7	140777655	0.986000	0.35501	0.993000	0.49108	0.496000	0.33645	0.276000	0.18716	0.431000	0.26258	0.650000	0.86243	CAG		0.642	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		3	6	1	0	0.004672	1	0.0049138	3	6				
CLCA1	1179	broad.mit.edu	37	1	86954716	86954716	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86954716T>G	ENST00000234701.3	+	9	1571	c.1220T>G	c.(1219-1221)aTt>aGt	p.I407S	CLCA1_ENST00000394711.1_Missense_Mutation_p.I407S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	407	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGATCTGAAATTGTGCTGCTG	0.448																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1219-1221)aTt>aGt		chloride channel accessory 1							133.0	122.0	125.0					1																	86954716		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86954716T>G		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1220T>G	1.37:g.86954716T>G	ENSP00000234701:p.Ile407Ser					CLCA1_ENST00000394711.1_Missense_Mutation_p.I407S	p.I407S			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	9	1571	+		Lung NSC(277;0.239)	407			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1220T>G	CCDS709.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659812	0.67586	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.19394	2.15;2.15	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.061993	0.64402	D	0.000009	T	0.51126	0.1656	H	0.94542	3.55	0.46061	D	0.998846	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.988	T	0.67256	-0.5716	10	0.87932	D	0	-14.4632	15.3407	0.74293	0.0:0.0:0.0:1.0	.	407;170	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	S	407;407;120	ENSP00000234701:I407S;ENSP00000378200:I407S	ENSP00000234701:I407S	I	+	2	0	CLCA1	86727304	1.000000	0.71417	0.883000	0.34634	0.556000	0.35491	5.707000	0.68370	2.097000	0.63578	0.460000	0.39030	ATT		0.448	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		6	109	0	0	0	1	0	6	109				
TRIM23	373	broad.mit.edu	37	5	64887632	64887632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64887632C>T	ENST00000231524.9	-	11	2060	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	TRIM23_ENST00000274327.7_Intron|TRIM23_ENST00000381018.3_Intron	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	563	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTACAAGTTGCCGTGAGAGCC	0.428																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1687-1689)cgG>cgA		tripartite motif containing 23							92.0	87.0	89.0					5																	64887632		2203	4300	6503	SO:0001819	synonymous_variant	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64887632C>T	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1689G>A	5.37:g.64887632C>T						TRIM23_ENST00000381018.3_Intron|TRIM23_ENST00000274327.7_Intron	p.R563R	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	11	2060	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	563			ARF-like.		Q9BZY4|Q9BZY5	Silent	SNP	ENST00000231524.9	37	c.1689G>A	CCDS3987.1																																																																																				0.428	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		22	38	0	0	0	1	0	22	38				
COL9A3	1299	broad.mit.edu	37	20	61458647	61458647	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61458647G>A	ENST00000343916.3	+	16	849		c.e16+1			NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGTGACCTCGTAAGTGAGAG	0.597																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.e16+1		collagen, type IX, alpha 3							53.0	54.0	53.0					20																	61458647		2199	4300	6499	SO:0001630	splice_region_variant	1299				axon guidance	collagen type IX		g.chr20:61458647G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.846+1G>A	20.37:g.61458647G>A								NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			16	849	+	Breast(26;5.68e-08)							Q13681|Q9H4G9|Q9UPE2	Splice_Site	SNP	ENST00000343916.3	37		CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604973	0.46423	.	.	ENSG00000092758	ENST00000343916	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8283	0.52280	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL9A3	60929092	1.000000	0.71417	0.933000	0.37362	0.550000	0.35303	6.837000	0.75354	1.905000	0.55150	0.462000	0.41574	.		0.597	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853	Intron	20	23	0	0	0	1	0	20	23				
HCP5	10866	broad.mit.edu	37	6	31431688	31431688	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31431688C>A	ENST00000414046.2	+	0	760					NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						atgcctcctcctggggatcag	0.582																																						ENST00000414046.2																			0				urinary_tract(1)	1															85.0	88.0	87.0					6																	31431688		2203	4300	6503			0				defense response			g.chr6:31431688C>A	D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31431688C>A								NR_040662.1		Q6MZN7	HCP5_HUMAN			0	760	+								Q04490	RNA	SNP	ENST00000414046.2	37																																																																																						0.582	HCP5-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000076614.4	NR_040662		40	48	1	0	6.5261e-18	1	8.49029e-18	40	48				
FER	2241	broad.mit.edu	37	5	108134082	108134082	+	Missense_Mutation	SNP	G	G	A	rs376919194		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108134082G>A	ENST00000281092.4	+	3	583	c.199G>A	c.(199-201)Gta>Ata	p.V67I	FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_5'UTR|FER_ENST00000536402.1_Missense_Mutation_p.V67I	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	67	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGTCAGCAACGTATCCAAGGT	0.294																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(199-201)Gta>Ata		fer (fps/fes related) tyrosine kinase		G	ILE/VAL	0,4404		0,0,2202	75.0	78.0	77.0		199	4.4	1.0	5		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	FER	NM_005246.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	67/823	108134082	1,13003	2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108134082G>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.199G>A	5.37:g.108134082G>A	ENSP00000281092:p.Val67Ile					FER_ENST00000536402.1_Missense_Mutation_p.V67I|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_5'UTR	p.V67I	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	3	583	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	67			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.199G>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375452	0.24857	0.0	1.16E-4	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.16597	2.33;2.33	5.3	4.44	0.53790	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.02263	-1.1186	10	0.02654	T	1	-16.9333	14.4718	0.67521	0.0714:0.0:0.9286:0.0	.	67;67	Q6PEJ9;P16591	.;FER_HUMAN	I	67	ENSP00000281092:V67I;ENSP00000442627:V67I	ENSP00000281092:V67I	V	+	1	0	FER	108161981	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	6.016000	0.70798	1.372000	0.46190	-0.137000	0.14449	GTA		0.294	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		16	29	0	0	0	1	0	16	29				
HMBOX1	79618	broad.mit.edu	37	8	28906606	28906606	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28906606G>T	ENST00000397358.3	+	10	1829				HMBOX1_ENST00000444075.1_Intron|HMBOX1_ENST00000558662.1_Intron|RNA5SP260_ENST00000363849.1_RNA|HMBOX1_ENST00000517386.1_Intron|HMBOX1_ENST00000523613.1_Missense_Mutation_p.S389I|HMBOX1_ENST00000355231.5_Intron|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000524238.1_Intron|HMBOX1_ENST00000287701.10_Intron	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TGGTGCCTGAGCAGGGGGTAT	0.582																																						ENST00000523613.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1165-1167)aGc>aTc		homeobox containing 1							57.0	50.0	53.0					8																	28906606		2203	4300	6503	SO:0001627	intron_variant	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28906606G>T	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.1125+41G>T	8.37:g.28906606G>T						HMBOX1_ENST00000355231.5_Intron|HMBOX1_ENST00000444075.1_Intron|HMBOX1_ENST00000397358.3_Intron|HMBOX1_ENST00000558662.1_Intron|HMBOX1_ENST00000517386.1_Intron|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000287701.10_Intron|HMBOX1_ENST00000524238.1_Intron	p.S389I			Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	9	1498	+		Ovarian(32;0.0192)	0					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.1166G>T	CCDS6071.1																																																																																				0.582	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		13	17	1	0	1.61879e-10	1	1.99744e-10	13	17				
KIAA2018	205717	broad.mit.edu	37	3	113379797	113379797	+	Silent	SNP	G	G	A	rs375719498		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113379797G>A	ENST00000478658.1	-	5	749	c.732C>T	c.(730-732)agC>agT	p.S244S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.S244S			Q68DE3	K2018_HUMAN	KIAA2018	244						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CATTTGATTCGCTTTCAGAGG	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19967	0.0		0.0	False		,,,				2504	0.0					ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(730-732)agC>agT		KIAA2018		G		1,3851		0,1,1925	57.0	56.0	56.0		732	-7.8	0.1	3		56	0,8274		0,0,4137	no	coding-synonymous	KIAA2018	NM_001009899.2		0,1,6062	AA,AG,GG		0.0,0.026,0.0082		244/2246	113379797	1,12125	1926	4137	6063	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379797G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.732C>T	3.37:g.113379797G>A						KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S244S	p.S244S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	1142	-			244					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.732C>T	CCDS43133.1																																																																																				0.473	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		18	20	0	0	0	1	0	18	20				
TOR3A	64222	broad.mit.edu	37	1	179057219	179057219	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179057219T>C	ENST00000367627.3	+	4	1565	c.813T>C	c.(811-813)ttT>ttC	p.F271F	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.F271F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	271					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCTTTCTGTTTCTCAGGTGGG	0.597																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(811-813)ttT>ttC		torsin family 3, member A							54.0	58.0	57.0					1																	179057219		2203	4300	6503	SO:0001819	synonymous_variant	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179057219T>C	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.813T>C	1.37:g.179057219T>C						TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.F271F	p.F271F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			4	1565	+			271					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	ENST00000367627.3	37	c.813T>C	CCDS1329.1																																																																																				0.597	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		32	66	0	0	0	1	0	32	66				
MYO1F	4542	broad.mit.edu	37	19	8601203	8601203	+	Missense_Mutation	SNP	G	G	A	rs201138222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8601203G>A	ENST00000338257.8	-	19	2243	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	659	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13502	0.0		0.0	False		,,,				2504	0.0					ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1975-1977)gCg>gTg		myosin IF							67.0	68.0	68.0					19																	8601203		2030	4210	6240	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601203G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1976C>T	19.37:g.8601203G>A	ENSP00000344871:p.Ala659Val						p.A659V	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			19	2243	-			659			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1976C>T	CCDS42494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.8	4.333385	0.81801	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87966	-2.32	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.067309	0.64402	D	0.000010	D	0.84615	0.5511	M	0.65975	2.015	0.41335	D	0.987269	P	0.40250	0.709	B	0.33454	0.164	D	0.86832	0.2011	10	0.51188	T	0.08	.	16.2491	0.82473	0.0:0.0:1.0:0.0	.	659	O00160	MYO1F_HUMAN	V	704;659	ENSP00000344871:A659V	ENSP00000304899:A704V	A	-	2	0	MYO1F	8507203	1.000000	0.71417	0.624000	0.29186	0.904000	0.53231	9.781000	0.99029	2.076000	0.62316	0.454000	0.30748	GCG		0.637	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			19	34	0	0	0	1	0	19	34				
AHNAK	79026	broad.mit.edu	37	11	62284747	62284747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62284747C>T	ENST00000378024.4	-	5	17416	c.17142G>A	c.(17140-17142)atG>atA	p.M5714I	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5714					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTGGGCATTTTGATCT	0.463																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17140-17142)atG>atA		AHNAK nucleoprotein							81.0	85.0	84.0					11																	62284747		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62284747C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17142G>A	11.37:g.62284747C>T	ENSP00000367263:p.Met5714Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	p.M5714I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17416	-		Melanoma(852;0.155)	5714					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.17142G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382167	0.61845	.	.	ENSG00000124942	ENST00000378024	T	0.01335	5.0	4.77	4.77	0.60923	.	.	.	.	.	T	0.08223	0.0205	M	0.79693	2.465	0.39850	D	0.973227	P	0.51653	0.947	D	0.68192	0.956	T	0.49113	-0.8973	9	0.18276	T	0.48	.	17.4378	0.87557	0.0:1.0:0.0:0.0	.	5714	Q09666	AHNK_HUMAN	I	5714	ENSP00000367263:M5714I	ENSP00000367263:M5714I	M	-	3	0	AHNAK	62041323	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.883000	0.69721	2.207000	0.71202	0.549000	0.68633	ATG		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	77	0	0	0	1	0	46	77				
MTL5	9633	broad.mit.edu	37	11	68514826	68514826	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68514826G>T	ENST00000255087.5	-	3	663	c.480C>A	c.(478-480)atC>atA	p.I160I	MTL5_ENST00000544963.1_Silent_p.I160I|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000443940.2_Silent_p.I160I	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	160					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGCTTCCTTGATTTCAACCT	0.393																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(478-480)atC>atA		metallothionein-like 5, testis-specific (tesmin)							94.0	91.0	92.0					11																	68514826		2200	4294	6494	SO:0001819	synonymous_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68514826G>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.480C>A	11.37:g.68514826G>T						MTL5_ENST00000255087.5_Silent_p.I160I|MTL5_ENST00000544963.1_Silent_p.I160I|MTL5_ENST00000540869.1_5'UTR	p.I160I			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		3	566	-	Esophageal squamous(3;4.37e-12)		160					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	ENST00000255087.5	37	c.480C>A	CCDS8184.1																																																																																				0.393	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		6	57	1	0	3.59834e-05	1	4.01776e-05	6	57				
ARHGAP5	394	broad.mit.edu	37	14	32563100	32563100	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32563100C>T	ENST00000345122.3	+	2	3540	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	ARHGAP5_ENST00000432921.1_Silent_p.S1075S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.S1075S|ARHGAP5_ENST00000539826.2_Silent_p.S1075S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1075					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAGACTTCCCGGGTGCCTT	0.383																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(3223-3225)tcC>tcT		Rho GTPase activating protein 5							48.0	51.0	50.0					14																	32563100		2203	4299	6502	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32563100C>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3225C>T	14.37:g.32563100C>T						ARHGAP5_ENST00000539826.2_Silent_p.S1075S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S1075S|ARHGAP5_ENST00000556611.1_Silent_p.S1075S	p.S1075S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3540	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1075					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.3225C>T	CCDS32062.1																																																																																				0.383	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		30	60	0	0	0	1	0	30	60				
FNTA	2339	broad.mit.edu	37	8	42927340	42927340	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42927340T>C	ENST00000302279.3	+	5	717	c.523T>C	c.(523-525)Tta>Cta	p.L175L	FNTA_ENST00000342116.4_Silent_p.L108L|FNTA_ENST00000529687.1_Silent_p.L24L|RP11-598P20.5_ENST00000534420.1_Silent_p.L132L|RNU1-124P_ENST00000363861.1_RNA	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	175					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TAGGCGAGTATTAGTGGAATG	0.383																																						ENST00000529687.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(70-72)Tta>Cta		farnesyltransferase, CAAX box, alpha							149.0	147.0	148.0					8																	42927340		2203	4300	6503	SO:0001819	synonymous_variant	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42927340T>C	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.523T>C	8.37:g.42927340T>C						FNTA_ENST00000342116.4_Silent_p.L108L|RP11-598P20.5_ENST00000534420.1_Silent_p.L132L|FNTA_ENST00000302279.3_Silent_p.L175L	p.L24L			P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		5	958	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	175			Pro-rich.		A6NJW0|Q53XJ9|Q9UDC1	Silent	SNP	ENST00000302279.3	37	c.70T>C	CCDS6140.1																																																																																				0.383	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		4	159	0	0	0	1	0	4	159				
RNF8	9025	broad.mit.edu	37	6	37328321	37328321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37328321G>A	ENST00000373479.4	+	2	404	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RN7SL273P_ENST00000481561.2_RNA|RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.E71K|RNF8_ENST00000394443.4_Missense_Mutation_p.E71K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	71	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGAATCCTGAGGGCCAATG	0.383																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(211-213)Gag>Aag		ring finger protein 8, E3 ubiquitin protein ligase							107.0	101.0	103.0					6																	37328321		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37328321G>A	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.211G>A	6.37:g.37328321G>A	ENSP00000362578:p.Glu71Lys					RNF8_ENST00000394443.4_Missense_Mutation_p.E71K|RNF8_ENST00000469731.1_Missense_Mutation_p.E71K|RNF8_ENST00000479516.1_3'UTR	p.E71K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			2	404	+			71			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.211G>A	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682637	0.68157	.	.	ENSG00000112130	ENST00000373479;ENST00000394443;ENST00000487950;ENST00000469731	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	4.88	4.01	0.46588	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.225652	0.40818	N	0.001002	D	0.83543	0.5277	L	0.58101	1.795	0.31281	N	0.69063	B;P	0.36837	0.024;0.571	B;P	0.50192	0.053;0.634	T	0.81061	-0.1103	10	0.59425	D	0.04	-2.7282	8.403	0.32597	0.0831:0.1549:0.762:0.0	.	14;71	C9J858;O76064	.;RNF8_HUMAN	K	71;71;14;71	ENSP00000362578:E71K;ENSP00000377961:E71K;ENSP00000417736:E14K;ENSP00000418879:E71K	ENSP00000229866:E71K	E	+	1	0	RNF8	37436299	1.000000	0.71417	0.889000	0.34880	0.881000	0.50899	4.280000	0.58959	1.195000	0.43115	-0.259000	0.10710	GAG		0.383	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			6	63	0	0	0	1	0	6	63				
MVD	4597	broad.mit.edu	37	16	88725119	88725119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88725119C>T	ENST00000301012.3	-	2	109	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	27					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTCTTCATCGCGCTTGCCCCC	0.637																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(79-81)cGc>cAc		mevalonate (diphospho) decarboxylase							132.0	102.0	112.0					16																	88725119		2198	4298	6496	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88725119C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.80G>A	16.37:g.88725119C>T	ENSP00000301012:p.Arg27His					MVD_ENST00000568709.1_5'UTR	p.R27H	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	2	109	-			27					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.80G>A	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595290	0.86953	.	.	ENSG00000167508	ENST00000301012	T	0.51574	0.7	4.03	4.03	0.46877	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.89534	3.04	0.80722	D	1	D	0.67145	0.996	P	0.57911	0.829	T	0.79902	-0.1607	10	0.87932	D	0	-10.7218	16.1188	0.81325	0.0:1.0:0.0:0.0	.	27	P53602	MVD1_HUMAN	H	27	ENSP00000301012:R27H	ENSP00000301012:R27H	R	-	2	0	MVD	87252620	1.000000	0.71417	0.985000	0.45067	0.823000	0.46562	6.930000	0.75858	1.955000	0.56771	0.448000	0.29417	CGC		0.637	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		4	8	0	0	0	1	0	4	8				
UCK1	83549	broad.mit.edu	37	9	134404542	134404542	+	Missense_Mutation	SNP	C	C	T	rs551698955		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404542C>T	ENST00000372215.4	-	4	574	c.481G>A	c.(481-483)Gac>Aac	p.D161N	UCK1_ENST00000372211.3_Missense_Mutation_p.D166N|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Missense_Mutation_p.D161N|UCK1_ENST00000372210.3_Missense_Mutation_p.D152N	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	161					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACGTCGGAGTCGGTGTCCACG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17810	0.0		0.0	False		,,,				2504	0.001				Melanoma(42;523 1129 28385 43975 48113)	ENST00000372215.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(481-483)Gac>Aac		uridine-cytidine kinase 1							51.0	44.0	46.0					9																	134404542		2203	4300	6503	SO:0001583	missense	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134404542C>T	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.481G>A	9.37:g.134404542C>T	ENSP00000361289:p.Asp161Asn					UCK1_ENST00000372210.3_Missense_Mutation_p.D152N|UCK1_ENST00000372211.3_Missense_Mutation_p.D166N|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Missense_Mutation_p.D161N	p.D161N	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	4	574	-			161					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Missense_Mutation	SNP	ENST00000372215.4	37	c.481G>A	CCDS6944.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522137	0.96416	.	.	ENSG00000130717	ENST00000372215;ENST00000372208;ENST00000372211;ENST00000372210	.	.	.	5.1	4.21	0.49690	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	D	0.84129	0.5404	H	0.94462	3.54	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61533	0.89;0.881;0.89	D	0.87987	0.2747	9	0.87932	D	0	-37.6346	12.74	0.57246	0.0:0.9206:0.0:0.0794	.	152;161;161	Q5JT10;Q9HA47-2;Q9HA47	.;.;UCK1_HUMAN	N	161;161;166;152	.	ENSP00000361282:D161N	D	-	1	0	UCK1	133394363	1.000000	0.71417	0.777000	0.31699	0.979000	0.70002	6.074000	0.71253	1.153000	0.42468	0.655000	0.94253	GAC		0.647	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		15	14	0	0	0	1	0	15	14				
HP	3240	broad.mit.edu	37	16	72090136	72090136	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72090136A>G	ENST00000355906.5	+	2	140	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	HPR_ENST00000356967.5_Intron|HP_ENST00000357763.4_Missense_Mutation_p.I28V|HP_ENST00000562526.1_Missense_Mutation_p.I28V|HP_ENST00000569639.1_Missense_Mutation_p.I28V|HP_ENST00000398131.2_Missense_Mutation_p.I28V|HP_ENST00000570083.1_Missense_Mutation_p.I28V|HP_ENST00000565574.1_Missense_Mutation_p.I28V	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	28					acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGTCACGGATATCGCAGGTCA	0.552																																						ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(82-84)Atc>Gtc		haptoglobin							148.0	137.0	140.0					16																	72090136		2065	4200	6265	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72090136A>G		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.82A>G	16.37:g.72090136A>G	ENSP00000348170:p.Ile28Val					HP_ENST00000398131.2_Missense_Mutation_p.I28V|HP_ENST00000565574.1_Missense_Mutation_p.I28V|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I28V|HP_ENST00000562526.1_Missense_Mutation_p.I28V|HP_ENST00000569639.1_Missense_Mutation_p.I28V	p.I28V	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	2	140	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	28					B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.82A>G	CCDS45524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.391|9.391	1.075462|1.075462	0.20227|0.20227	.|.	.|.	ENSG00000257017|ENSG00000257017	ENST00000405951|ENST00000355906;ENST00000398131;ENST00000357763	.|D;D	.|0.88586	.|-2.4;-2.38	4.84|4.84	-5.99|-5.99	0.02213|0.02213	.|.	1.795730|1.795730	0.03009|0.03009	N|N	0.149187|0.149187	T|T	0.75004|0.75004	0.3791|0.3791	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|B;B	.|0.27971	.|0.039;0.196	.|B;B	.|0.18263	.|0.01;0.021	T|T	0.68405|0.68405	-0.5417|-0.5417	7|10	0.87932|0.02654	D|T	0|1	.|.	1.4154|1.4154	0.02300|0.02300	0.2051:0.1267:0.1709:0.4973|0.2051:0.1267:0.1709:0.4973	.|.	.|28;28	.|Q0VAC5;P00738	.|.;HPT_HUMAN	M|V	4|28;28;63	.|ENSP00000348170:I28V;ENSP00000381199:I28V	ENSP00000386047:I4M|ENSP00000348170:I28V	I|I	+|+	3|1	3|0	HP|HP	70647637|70647637	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.722000|-0.722000	0.04958|0.04958	-0.855000|-0.855000	0.04125|0.04125	0.533000|0.533000	0.62120|0.62120	ATA|ATC		0.552	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		31	41	0	0	0	1	0	31	41				
RGPD3	653489	broad.mit.edu	37	2	107073523	107073523	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107073523C>T	ENST00000409886.3	-	4	396	c.309G>A	c.(307-309)ttG>ttA	p.L103L	RGPD3_ENST00000304514.7_Silent_p.L103L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	103					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTTACAAAGCAATTCTGCAA	0.328																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(307-309)ttG>ttA		RANBP2-like and GRIP domain containing 3							88.0	81.0	83.0					2																	107073523		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107073523C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.309G>A	2.37:g.107073523C>T						RGPD3_ENST00000304514.7_Silent_p.L103L	p.L103L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			4	396	-			103					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.309G>A	CCDS46379.1																																																																																				0.328	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	136	0	0	0	1	0	6	136				
NLRP13	126204	broad.mit.edu	37	19	56424591	56424591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56424591G>A	ENST00000342929.3	-	5	591	c.592C>T	c.(592-594)Cct>Tct	p.P198S	NLRP13_ENST00000588751.1_Missense_Mutation_p.P198S	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	198							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGTCTTTAGGCCAACTGATG	0.483																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(592-594)Cct>Tct		NLR family, pyrin domain containing 13							169.0	181.0	177.0					19																	56424591		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424591G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.592C>T	19.37:g.56424591G>A	ENSP00000343891:p.Pro198Ser					NLRP13_ENST00000342929.3_Missense_Mutation_p.P198S	p.P198S			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	616	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	198					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.592C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503325	0.12822	.	.	ENSG00000173572	ENST00000342929	T	0.72051	-0.62	2.12	1.07	0.20283	.	.	.	.	.	T	0.47619	0.1455	N	0.19112	0.55	0.09310	N	1	B	0.30824	0.296	B	0.32864	0.154	T	0.34079	-0.9843	9	0.08381	T	0.77	.	4.6668	0.12670	0.189:0.0:0.811:0.0	.	198	Q86W25	NAL13_HUMAN	S	198	ENSP00000343891:P198S	ENSP00000343891:P198S	P	-	1	0	NLRP13	61116403	0.765000	0.28485	0.072000	0.20136	0.002000	0.02628	2.426000	0.44731	0.494000	0.27859	-0.237000	0.12165	CCT		0.483	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		66	81	0	0	0	1	0	66	81				
RPS6KA3	6197	broad.mit.edu	37	X	20185731	20185731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20185731G>A	ENST00000379565.3	-	17	1785	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Silent_p.T497T|RPS6KA3_ENST00000379548.4_Silent_p.T496T|RPS6KA3_ENST00000544447.1_Silent_p.T498T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	526	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GATATTCAACGGTTTTAGTTA	0.353																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1576-1578)acC>acT		ribosomal protein S6 kinase, 90kDa, polypeptide 3							180.0	180.0	180.0					X																	20185731		2203	4300	6503	SO:0001819	synonymous_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20185731G>A	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1578C>T	X.37:g.20185731G>A						RPS6KA3_ENST00000540702.1_Silent_p.T497T|RPS6KA3_ENST00000544447.1_Silent_p.T498T|RPS6KA3_ENST00000379548.4_Silent_p.T496T|RPS6KA3_ENST00000479809.1_5'UTR	p.T526T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			17	1785	-			526			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.1578C>T	CCDS14197.1																																																																																				0.353	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		83	171	0	0	0	1	0	83	171				
SYNPO2	171024	broad.mit.edu	37	4	119951134	119951134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951134C>T	ENST00000429713.2	+	4	1386	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R402W|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.R402W	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	402	Poly-Arg.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGCGACGTCGGAGGGCCAG	0.507																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1204-1206)Cgg>Tgg		synaptopodin 2							152.0	149.0	150.0					4																	119951134		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951134C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1204C>T	4.37:g.119951134C>T	ENSP00000395143:p.Arg402Trp					SYNPO2_ENST00000429713.2_Missense_Mutation_p.R402W|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R402W|SYNPO2_ENST00000448416.2_Intron	p.R402W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	1400	+			402			Poly-Arg.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.1204C>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.40|18.40	3.615827|3.615827	0.66672|0.66672	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.09538|.	2.97;3.0;2.99|.	5.79|5.79	3.01|3.01	0.34805|0.34805	.|.	0.245861|.	0.29916|.	N|.	0.010865|.	T|T	0.58949|0.58949	0.2158|0.2158	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.70935|.	0.913;0.971;0.913;0.913|.	T|T	0.52351|0.52351	-0.8587|-0.8587	10|5	0.87932|.	D|.	0|.	-14.0336|-14.0336	14.9624|14.9624	0.71166|0.71166	0.3905:0.6095:0.0:0.0|0.3905:0.6095:0.0:0.0	.|.	402;402;402;402|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	W|L	402|353	ENSP00000306015:R402W;ENSP00000395143:R402W;ENSP00000390965:R402W|.	ENSP00000306015:R402W|.	R|S	+|+	1|2	2|0	SYNPO2|SYNPO2	120170582|120170582	0.983000|0.983000	0.35010|0.35010	0.046000|0.046000	0.18839|0.18839	0.432000|0.432000	0.31715|0.31715	2.665000|2.665000	0.46791|0.46791	0.304000|0.304000	0.22809|0.22809	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.507	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			29	54	0	0	0	1	0	29	54				
ZCCHC7	84186	broad.mit.edu	37	9	37126625	37126625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37126625G>T	ENST00000336755.5	+	2	402	c.296G>T	c.(295-297)aGt>aTt	p.S99I	ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S98I|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	99						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S99T(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GATGAAGACAGTATTTATAGA	0.383																																						ENST00000336755.5																			1	Substitution - Missense(1)	p.S99T(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(295-297)aGt>aTt		zinc finger, CCHC domain containing 7							144.0	144.0	144.0					9																	37126625		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126625G>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.296G>T	9.37:g.37126625G>T	ENSP00000337839:p.Ser99Ile					ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S98I|ZCCHC7_ENST00000461038.1_3'UTR	p.S99I	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	402	+			99					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.296G>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024880	0.75390	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.56611	1.12;0.45	5.64	5.64	0.86602	.	0.338348	0.36034	N	0.002821	T	0.72366	0.3451	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.73222	-0.4051	10	0.87932	D	0	.	20.0552	0.97649	0.0:0.0:1.0:0.0	.	99;99	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	I	99;98	ENSP00000337839:S99I;ENSP00000316365:S98I	ENSP00000316365:S98I	S	+	2	0	ZCCHC7	37116625	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.708000	0.74660	2.810000	0.96702	0.637000	0.83480	AGT		0.383	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		17	191	1	0	9.16793e-09	1	1.10245e-08	17	191				
FPR2	2358	broad.mit.edu	37	19	52272593	52272593	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52272593A>C	ENST00000598776.1	+	2	1454	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	FPR2_ENST00000340023.6_Missense_Mutation_p.I228L|FPR2_ENST00000598953.1_Missense_Mutation_p.I228L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	228					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCAGCCAAGATCCACAAAAA	0.493																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(682-684)Atc>Ctc		formyl peptide receptor 2							169.0	132.0	145.0					19																	52272593		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272593A>C	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.682A>C	19.37:g.52272593A>C	ENSP00000468897:p.Ile228Leu					FPR2_ENST00000340023.6_Missense_Mutation_p.I228L|FPR2_ENST00000598953.1_Missense_Mutation_p.I228L	p.I228L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1454	+			228					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.682A>C	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	8.894	0.954730	0.18431	.	.	ENSG00000171049	ENST00000340023	T	0.30182	1.54	3.8	-0.0482	0.13840	GPCR, rhodopsin-like superfamily (1);	0.417116	0.22139	N	0.064067	T	0.12135	0.0295	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.32268	-0.9913	10	0.06891	T	0.86	.	5.7243	0.18004	0.4134:0.4774:0.1092:0.0	.	228	P25090	FPR2_HUMAN	L	228	ENSP00000340191:I228L	ENSP00000340191:I228L	I	+	1	0	FPR2	56964405	0.989000	0.36119	0.015000	0.15790	0.938000	0.57974	0.462000	0.21956	0.129000	0.18514	0.402000	0.26972	ATC		0.493	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		23	24	0	0	0	1	0	23	24				
NFIL3	4783	broad.mit.edu	37	9	94172623	94172623	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172623T>C	ENST00000297689.3	-	2	788	c.394A>G	c.(394-396)Aca>Gca	p.T132A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	132	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCATATGCTGTGGAGCTAATT	0.378																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(394-396)Aca>Gca		nuclear factor, interleukin 3 regulated							76.0	79.0	78.0					9																	94172623		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172623T>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.394A>G	9.37:g.94172623T>C	ENSP00000297689:p.Thr132Ala						p.T132A	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	788	-			132					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.394A>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	1.131	-0.652483	0.03480	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	5.19	-1.21	0.09524	Vertebrate interleukin-3 regulated transcription factor (1);Basic-leucine zipper (bZIP) transcription factor (1);	0.436627	0.21639	N	0.071363	T	0.17450	0.0419	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.31641	-0.9936	9	0.05959	T	0.93	-5.3369	9.0831	0.36565	0.1384:0.5901:0.0:0.2715	.	132	Q16649	NFIL3_HUMAN	A	132	.	ENSP00000297689:T132A	T	-	1	0	NFIL3	93212444	0.063000	0.20901	0.001000	0.08648	0.952000	0.60782	0.190000	0.17057	-0.366000	0.08064	-0.441000	0.05720	ACA		0.378	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		45	58	0	0	0	1	0	45	58				
ZNF765	91661	broad.mit.edu	37	19	53912265	53912265	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912265G>T	ENST00000396408.3	+	4	1574	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACCATCATAGACTTCATACT	0.378																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1456-1458)aGa>aTa		zinc finger protein 765							81.0	86.0	84.0					19																	53912265		2201	4300	6501	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912265G>T	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1457G>T	19.37:g.53912265G>T	ENSP00000379689:p.Arg486Ile					ZNF765_ENST00000594030.1_Intron	p.R486I	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1574	+			486					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1457G>T	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	13.07	2.126336	0.37533	.	.	ENSG00000196417	ENST00000396408	T	0.24908	1.83	1.19	-2.38	0.06622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37237	0.0996	M	0.82433	2.59	0.09310	N	1	D	0.57257	0.979	P	0.52424	0.698	T	0.22487	-1.0215	8	.	.	.	.	5.4729	0.16680	0.0:0.2113:0.5748:0.2138	.	486	Q7L2R6	ZN765_HUMAN	I	486	ENSP00000379689:R486I	.	R	+	2	0	ZNF765	58604077	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.418000	0.07080	-1.168000	0.02776	0.176000	0.17051	AGA		0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		8	73	1	0	5.18039e-06	1	5.91835e-06	8	73				
TRA2A	29896	broad.mit.edu	37	7	23545428	23545428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545428G>A	ENST00000297071.4	-	7	991	c.775C>T	c.(775-777)Cga>Tga	p.R259*	TRA2A_ENST00000474586.1_5'Flank|TRA2A_ENST00000538367.1_Nonsense_Mutation_p.R158*|TRA2A_ENST00000392502.4_Splice_Site_p.R157*	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	259	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GAAGGTGATCGTCTTCTGTAA	0.333																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(775-777)Cga>Tga		transformer 2 alpha homolog (Drosophila)							97.0	95.0	96.0					7																	23545428		2203	4298	6501	SO:0001587	stop_gained	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23545428G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.775C>T	7.37:g.23545428G>A	ENSP00000297071:p.Arg259*					TRA2A_ENST00000538367.1_Nonsense_Mutation_p.R158*|TRA2A_ENST00000392502.4_Splice_Site_p.R157_splice	p.R259*	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			7	991	-			259			Arg/Ser-rich (RS2 domain).		B4DUA9	Nonsense_Mutation	SNP	ENST00000297071.4	37	c.775C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	44	11.074002	0.99511	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	.	.	.	5.34	2.91	0.33838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6592	14.1006	0.65051	0.0:0.0:0.5958:0.4042	.	.	.	.	X	259;157;158	.	ENSP00000297071:R259X	R	-	1	2	TRA2A	23511953	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.208000	0.58486	0.326000	0.23384	-0.538000	0.04264	CGA		0.333	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		61	46	0	0	0	1	0	61	46				
SH2D7	646892	broad.mit.edu	37	15	78390415	78390415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78390415G>A	ENST00000328828.5	+	3	411	c.411G>A	c.(409-411)atG>atA	p.M137I	SH2D7_ENST00000409568.2_Start_Codon_SNP_p.M1I	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	137	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		M -> T (in dbSNP:rs2289524).							endometrium(2)|kidney(2)|lung(3)	7						TCAAAGAGATGCTGACTGCTG	0.622																																						ENST00000328828.5																			0				endometrium(2)|kidney(2)|lung(3)	7						c.(409-411)atG>atA		SH2 domain containing 7							30.0	33.0	32.0					15																	78390415		2088	4196	6284	SO:0001583	missense	646892							g.chr15:78390415G>A		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.411G>A	15.37:g.78390415G>A	ENSP00000327846:p.Met137Ile					SH2D7_ENST00000409568.2_Start_Codon_SNP_p.M1I	p.M137I	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN			3	411	+			137		M -> T (in dbSNP:rs2289524).	SH2.			Missense_Mutation	SNP	ENST00000328828.5	37	c.411G>A	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	g	8.488	0.861424	0.17178	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.40225	1.58;1.04	4.73	-0.867	0.10655	SH2 motif (2);	.	.	.	.	T	0.17959	0.0431	N	0.05351	-0.065	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	9	0.23891	T	0.37	.	3.9961	0.09559	0.2456:0.2441:0.4272:0.0831	.	137	A6NKC9	SH2D7_HUMAN	I	1;137	ENSP00000386676:M1I;ENSP00000327846:M137I	ENSP00000327846:M137I	M	+	3	0	SH2D7	76177470	0.027000	0.19231	0.957000	0.39632	0.077000	0.17291	-0.752000	0.04797	-0.513000	0.06496	-0.273000	0.10243	ATG		0.622	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		3	12	0	0	0	1	0	3	12				
OFD1	8481	broad.mit.edu	37	X	13775826	13775826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13775826C>T	ENST00000340096.6	+	14	1786	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.R347W|OFD1_ENST00000380550.3_Missense_Mutation_p.R447W	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	487					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAAAGAACTACGGAAAGCCGA	0.428																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1039-1041)Cgg>Tgg		oral-facial-digital syndrome 1							75.0	68.0	70.0					X																	13775826		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13775826C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1459C>T	X.37:g.13775826C>T	ENSP00000344314:p.Arg487Trp					OFD1_ENST00000340096.6_Missense_Mutation_p.R487W|OFD1_ENST00000380550.3_Missense_Mutation_p.R447W|OFD1_ENST00000490265.1_3'UTR	p.R347W			O75665	OFD1_HUMAN			15	1911	+			487					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1039C>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	6.776	0.512113	0.12944	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.96168	-2.31;-3.93;-1.84	5.16	-2.26	0.06867	.	0.504362	0.22742	N	0.056191	D	0.88433	0.6435	N	0.19112	0.55	0.19575	N	0.999965	B;B;B;B;B	0.21381	0.039;0.055;0.002;0.001;0.039	B;B;B;B;B	0.12156	0.007;0.007;0.001;0.001;0.007	T	0.77056	-0.2729	10	0.59425	D	0.04	-2.5128	10.0618	0.42279	0.2988:0.5904:0.0:0.1108	.	487;447;155;347;487	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	W	447;487;347;310	ENSP00000369923:R447W;ENSP00000344314:R487W;ENSP00000369941:R347W	ENSP00000344314:R487W	R	+	1	2	OFD1	13685747	0.931000	0.31567	0.002000	0.10522	0.005000	0.04900	0.264000	0.18497	-0.841000	0.04200	-1.544000	0.00907	CGG		0.428	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		25	38	0	0	0	1	0	25	38				
MYH7	4625	broad.mit.edu	37	14	23893176	23893176	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893176G>A	ENST00000355349.3	-	23	3024	c.2862C>T	c.(2860-2862)atC>atT	p.I954I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	954					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGATCATCGATGTCCCTTT	0.537																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2860-2862)atC>atT		myosin, heavy chain 7, cardiac muscle, beta							213.0	186.0	195.0					14																	23893176		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23893176G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2862C>T	14.37:g.23893176G>A							p.I954I	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	23	3024	-	all_cancers(95;2.54e-05)		954					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2862C>T	CCDS9601.1																																																																																				0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		40	41	0	0	0	1	0	40	41				
NSRP1	84081	broad.mit.edu	37	17	28511820	28511820	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28511820A>G	ENST00000247026.5	+	7	868	c.805A>G	c.(805-807)Agg>Ggg	p.R269G	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	269					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAACTGCAGAAGGGAAAAGGT	0.468																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(805-807)Agg>Ggg		nuclear speckle splicing regulatory protein 1							75.0	72.0	73.0					17																	28511820		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28511820A>G	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.805A>G	17.37:g.28511820A>G	ENSP00000247026:p.Arg269Gly					NSRP1_ENST00000540900.3_3'UTR	p.R269G	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	868	+			269					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.805A>G	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	A	4.259	0.047159	0.08243	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.47869	0.83	5.95	2.47	0.30058	.	0.430897	0.24825	N	0.035299	T	0.27731	0.0682	N	0.20685	0.6	0.33317	D	0.566779	B	0.06786	0.001	B	0.08055	0.003	T	0.16897	-1.0387	10	0.38643	T	0.18	-0.8371	5.5559	0.17115	0.7025:0.1438:0.1537:0.0	.	269	Q9H0G5	NSRP1_HUMAN	G	269;200;215	ENSP00000247026:R269G	ENSP00000247026:R269G	R	+	1	2	NSRP1	25535946	1.000000	0.71417	0.494000	0.27515	0.013000	0.08279	1.841000	0.39240	0.499000	0.27970	-0.323000	0.08544	AGG		0.468	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		3	39	0	0	0	1	0	3	39				
GALNT12	79695	broad.mit.edu	37	9	101611353	101611353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101611353C>A	ENST00000375011.3	+	10	1725	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA|GALNT12_ENST00000470473.1_3'UTR	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	575	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AGAAATGGTTCTTCAAAGAGC	0.498											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1723-1725)ttC>ttA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							104.0	99.0	101.0					9																	101611353		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101611353C>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1725C>A	9.37:g.101611353C>A	ENSP00000364150:p.Phe575Leu		OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	RP11-92C4.3_ENST00000589257.1_RNA|GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000433997.1_RNA	p.F575L	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			10	1725	+		Acute lymphoblastic leukemia(62;0.0559)	575			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1725C>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	3.939	-0.014591	0.07681	.	.	ENSG00000119514	ENST00000375011	T	0.27256	1.68	5.75	3.93	0.45458	Ricin B-related lectin (1);Ricin B lectin (2);	0.151813	0.64402	N	0.000010	T	0.12263	0.0298	N	0.16790	0.44	0.53005	D	0.999968	B	0.15141	0.012	B	0.12156	0.007	T	0.11817	-1.0572	10	0.02654	T	1	.	8.9429	0.35740	0.0:0.8296:0.0:0.1704	.	575	Q8IXK2	GLT12_HUMAN	L	575	ENSP00000364150:F575L	ENSP00000364150:F575L	F	+	3	2	GALNT12	100651174	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	1.483000	0.35497	0.788000	0.33755	-0.140000	0.14226	TTC		0.498	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		19	29	1	0	8.00594e-06	1	9.12844e-06	19	29				
TBX1	6899	broad.mit.edu	37	22	19751680	19751680	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751680A>G	ENST00000329705.7	+	5	644	c.515A>G	c.(514-516)tAc>tGc	p.Y172C	TBX1_ENST00000332710.4_Missense_Mutation_p.Y172C|TBX1_ENST00000359500.3_Missense_Mutation_p.Y172C	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	172					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGCTCCAGGTACGCCTTCCAC	0.672																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(514-516)tAc>tGc		T-box 1							42.0	31.0	34.0					22																	19751680		2198	4297	6495	SO:0001583	missense	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19751680A>G	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.515A>G	22.37:g.19751680A>G	ENSP00000331176:p.Tyr172Cys					TBX1_ENST00000359500.3_Missense_Mutation_p.Y172C|TBX1_ENST00000329705.7_Missense_Mutation_p.Y172C	p.Y172C	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			5	644	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	172					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.515A>G	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041842	0.75732	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.92699	-3.09;-3.09;-3.09	4.75	3.64	0.41730	p53-like transcription factor, DNA-binding (1);	0.314314	0.30714	N	0.009021	D	0.97198	0.9084	H	0.97829	4.085	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;D;D	0.91635	0.999;0.973;0.94	D	0.97148	0.9829	10	0.87932	D	0	.	10.0231	0.42055	0.8489:0.0:0.0:0.1511	.	172;172;172	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	C	172	ENSP00000331791:Y172C;ENSP00000331176:Y172C;ENSP00000352483:Y172C	ENSP00000331176:Y172C	Y	+	2	0	TBX1	18131680	1.000000	0.71417	0.894000	0.35097	0.794000	0.44872	7.252000	0.78309	1.790000	0.52503	0.456000	0.33151	TAC		0.672	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		4	15	0	0	0	1	0	4	15				
AHNAK	79026	broad.mit.edu	37	11	62286711	62286711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62286711C>T	ENST00000378024.4	-	5	15452	c.15178G>A	c.(15178-15180)Gta>Ata	p.V5060I	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5060					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGACATCTACATCCGGAGCC	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(15178-15180)Gta>Ata		AHNAK nucleoprotein							158.0	164.0	162.0					11																	62286711		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286711C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15178G>A	11.37:g.62286711C>T	ENSP00000367263:p.Val5060Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V5060I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15452	-		Melanoma(852;0.155)	5060					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.15178G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	1.179	-0.638664	0.03557	.	.	ENSG00000124942	ENST00000378024	T	0.01145	5.27	4.86	0.0159	0.14106	.	0.849423	0.09644	N	0.774639	T	0.00998	0.0033	L	0.31578	0.945	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.47787	-0.9090	10	0.12766	T	0.61	-4.1385	6.6618	0.23018	0.1709:0.587:0.0:0.2421	.	5060	Q09666	AHNK_HUMAN	I	5060	ENSP00000367263:V5060I	ENSP00000367263:V5060I	V	-	1	0	AHNAK	62043287	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.580000	0.02121	0.211000	0.20683	0.542000	0.68232	GTA		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		11	235	0	0	0	1	0	11	235				
WWP1	11059	broad.mit.edu	37	8	87474066	87474066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87474066G>A	ENST00000517970.1	+	24	2967	c.2660G>A	c.(2659-2661)aGc>aAc	p.S887N	WWP1_ENST00000349423.2_Missense_Mutation_p.S669N|WWP1_ENST00000341922.2_Missense_Mutation_p.S757N|WWP1_ENST00000265428.4_Missense_Mutation_p.S887N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	887	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTACCAAGAAGCCATACATGG	0.348																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2659-2661)aGc>aAc		WW domain containing E3 ubiquitin protein ligase 1							90.0	96.0	94.0					8																	87474066		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87474066G>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2660G>A	8.37:g.87474066G>A	ENSP00000427793:p.Ser887Asn					WWP1_ENST00000341922.2_Missense_Mutation_p.S757N|WWP1_ENST00000265428.4_Missense_Mutation_p.S887N|WWP1_ENST00000349423.2_Missense_Mutation_p.S669N	p.S887N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			24	2967	+			887			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2660G>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493639	0.84962	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000520798	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.66	5.66	0.87406	HECT (4);	0.039596	0.85682	D	0.000000	T	0.80476	0.4630	H	0.97265	3.97	0.80722	D	1	D	0.57257	0.979	D	0.65140	0.932	D	0.86729	0.1947	10	0.87932	D	0	.	20.1117	0.97914	0.0:0.0:1.0:0.0	.	887	Q9H0M0	WWP1_HUMAN	N	887;887;757;669;53	ENSP00000427793:S887N;ENSP00000265428:S887N;ENSP00000340564:S757N;ENSP00000342665:S669N;ENSP00000430228:S53N	ENSP00000265428:S887N	S	+	2	0	WWP1	87543182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.833000	0.97629	0.650000	0.86243	AGC		0.348	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		34	54	0	0	0	1	0	34	54				
TONSL	4796	broad.mit.edu	37	8	145659531	145659531	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145659531G>A	ENST00000409379.3	-	21	3246	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1073					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCAGCTCCCGGAGTGCTGTG	0.697																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3217-3219)Cgg>Tgg		tonsoku-like, DNA repair protein							18.0	20.0	20.0					8																	145659531		2196	4295	6491	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659531G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3217C>T	8.37:g.145659531G>A	ENSP00000386239:p.Arg1073Trp						p.R1073W	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			21	3246	-			1073					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.3217C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904884	0.72868	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.55413	0.52	5.08	5.08	0.68730	.	0.110120	0.49305	D	0.000144	T	0.64627	0.2615	L	0.41824	1.3	0.46096	D	0.99886	D	0.89917	1.0	D	0.73708	0.981	T	0.67841	-0.5566	10	0.87932	D	0	-36.778	15.9642	0.79952	0.0:0.0:1.0:0.0	.	1073	Q96HA7	TONSL_HUMAN	W	1073;1072	ENSP00000386239:R1073W	ENSP00000386239:R1073W	R	-	1	2	TONSL	145630339	1.000000	0.71417	0.992000	0.48379	0.725000	0.41563	6.307000	0.72815	2.368000	0.80403	0.462000	0.41574	CGG		0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		3	12	0	0	0	1	0	3	12				
LRP1	4035	broad.mit.edu	37	12	57599399	57599399	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599399C>T	ENST00000243077.3	+	75	11995	c.11529C>T	c.(11527-11529)ggC>ggT	p.G3843G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3843	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCAAGGGCGGCCACCTCT	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11527-11529)ggC>ggT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						80.0	77.0	78.0					12																	57599399		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57599399C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11529C>T	12.37:g.57599399C>T							p.G3843G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	75	11995	+			3843			EGF-like 15.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.11529C>T	CCDS8932.1																																																																																				0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		20	39	0	0	0	1	0	20	39				
EIF2B5	8893	broad.mit.edu	37	3	183855492	183855492	+	Silent	SNP	C	C	T	rs4496517		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183855492C>T	ENST00000273783.3	+	3	527	c.405C>T	c.(403-405)ctC>ctT	p.L135L	RP11-778D9.12_ENST00000608135.1_RNA|RP11-778D9.12_ENST00000608232.1_RNA|EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Silent_p.L135L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	135					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGATGTCCTCCGTGATGTTG	0.483																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(403-405)ctC>ctT		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							185.0	156.0	166.0					3																	183855492		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183855492C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.405C>T	3.37:g.183855492C>T						EIF2B5_ENST00000444495.1_Silent_p.L135L|EIF2B5_ENST00000498831.1_3'UTR	p.L135L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		3	527	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		135					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.405C>T	CCDS3252.1																																																																																				0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			25	37	0	0	0	1	0	25	37				
SLC25A16	8034	broad.mit.edu	37	10	70248235	70248235	+	Silent	SNP	C	C	T	rs540583345	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70248235C>T	ENST00000609923.1	-	7	860	c.762G>A	c.(760-762)gcG>gcA	p.A254A	SLC25A16_ENST00000539557.1_Silent_p.A156A|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	254					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATATTGTCTGCGCTATTGCTC	0.343													C|||	2	0.000399361	0.0	0.0	5008	,	,		17122	0.0		0.0	False		,,,				2504	0.002					ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(760-762)gcG>gcA		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16							61.0	56.0	57.0					10																	70248235		2203	4300	6503	SO:0001819	synonymous_variant	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70248235C>T	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.762G>A	10.37:g.70248235C>T						SLC25A16_ENST00000539557.1_Silent_p.A156A|SLC25A16_ENST00000493963.1_5'UTR	p.A254A	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			7	860	-			254					Q8N2U1	Silent	SNP	ENST00000609923.1	37	c.762G>A	CCDS7280.1																																																																																				0.343	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			8	18	0	0	0	1	0	8	18				
TBATA	219793	broad.mit.edu	37	10	72541718	72541718	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72541718T>G	ENST00000299290.1	-	4	505	c.116A>C	c.(115-117)aAa>aCa	p.K39T	TBATA_ENST00000456372.2_Missense_Mutation_p.K39T|TBATA_ENST00000545575.1_Missense_Mutation_p.K29T	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	39					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CACCAGTTCTTTCTGTGGCCC	0.592																																						ENST00000299290.1																			0											c.(115-117)aAa>aCa		thymus, brain and testes associated							112.0	113.0	113.0					10																	72541718		2203	4300	6503	SO:0001583	missense	219793							g.chr10:72541718T>G	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.116A>C	10.37:g.72541718T>G	ENSP00000299290:p.Lys39Thr					TBATA_ENST00000456372.2_Missense_Mutation_p.K39T|TBATA_ENST00000545575.1_Missense_Mutation_p.K29T	p.K39T	NM_152710.2	NP_689923.2					4	505	-								A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.116A>C	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.561265	0.45590	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T	0.54071	0.59	5.39	0.228	0.15364	.	0.240890	0.29791	N	0.011188	T	0.61813	0.2377	M	0.72479	2.2	0.21147	N	0.999773	D;D;D;D;D;D	0.76494	0.989;0.999;0.997;0.989;0.989;0.996	P;D;D;P;P;P	0.68192	0.691;0.956;0.928;0.691;0.691;0.856	T	0.51434	-0.8706	10	0.66056	D	0.02	-13.0173	4.0616	0.09841	0.0:0.3087:0.1813:0.5101	.	28;28;39;39;29;39	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;B7Z8I8;Q96M53	.;.;.;.;.;SPATL_HUMAN	T	39;26;39;29	ENSP00000299290:K39T	ENSP00000299290:K39T	K	-	2	0	C10orf27	72211724	0.305000	0.24481	0.268000	0.24571	0.222000	0.24845	0.479000	0.22228	0.077000	0.16863	0.482000	0.46254	AAA		0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		37	46	0	0	0	1	0	37	46				
HCN4	10021	broad.mit.edu	37	15	73635840	73635840	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73635840C>T	ENST00000261917.3	-	2	2088	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	RP11-272D12.1_ENST00000558742.1_RNA|RP11-272D12.1_ENST00000557981.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	365					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTAGACCTCCGAGTCGATGC	0.512																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1093-1095)tcG>tcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							99.0	82.0	88.0					15																	73635840		2198	4297	6495	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73635840C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1095G>A	15.37:g.73635840C>T							p.S365S	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	2	2088	-			365					Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.1095G>A	CCDS10248.1																																																																																				0.512	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		8	14	0	0	0	1	0	8	14				
TEX43	389320	broad.mit.edu	37	5	125967480	125967480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967480C>A	ENST00000357147.3	+	1	67	c.54C>A	c.(52-54)tgC>tgA	p.C18*		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		18										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CTAACAACTGCTCTGATGAGA	0.398																																						ENST00000357147.3																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(52-54)tgC>tgA		chromosome 5 open reading frame 48							187.0	168.0	175.0					5																	125967480		2203	4300	6503	SO:0001587	stop_gained	389320							g.chr5:125967480C>A																												ENST00000357147.3:c.54C>A	5.37:g.125967480C>A	ENSP00000349669:p.Cys18*						p.C18*	NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN			1	67	+			18						Nonsense_Mutation	SNP	ENST00000357147.3	37	c.54C>A	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961506	0.53400	.	.	ENSG00000196900	ENST00000357147	.	.	.	3.96	1.98	0.26296	.	0.772331	0.11289	N	0.579435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	0.2958	6.1842	0.20488	0.0:0.7773:0.0:0.2227	.	.	.	.	X	18	.	ENSP00000349669:C18X	C	+	3	2	C5orf48	125995379	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.250000	0.18235	0.513000	0.28278	0.561000	0.74099	TGC		0.398	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			26	54	1	0	9.57634e-11	1	1.18454e-10	26	54				
AGAP1	116987	broad.mit.edu	37	2	236715915	236715915	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236715915G>T	ENST00000304032.8	+	9	1570	c.990G>T	c.(988-990)aaG>aaT	p.K330N	AGAP1_ENST00000336665.5_Missense_Mutation_p.K330N|AGAP1_ENST00000428334.2_Missense_Mutation_p.K169N|AGAP1_ENST00000409538.1_Missense_Mutation_p.K595N|AGAP1_ENST00000409457.1_Missense_Mutation_p.K330N	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	330					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAAAGAGAAGAAAGGCCTGG	0.587																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1783-1785)aaG>aaT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							92.0	99.0	97.0					2																	236715915		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236715915G>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.990G>T	2.37:g.236715915G>T	ENSP00000307634:p.Lys330Asn					AGAP1_ENST00000428334.2_Missense_Mutation_p.K169N|AGAP1_ENST00000409457.1_Missense_Mutation_p.K330N|AGAP1_ENST00000304032.7_Missense_Mutation_p.K330N|AGAP1_ENST00000336665.5_Missense_Mutation_p.K330N	p.K595N			Q9UPQ3	AGAP1_HUMAN			9	2281	+			330					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1785G>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718566	0.68844	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	D;T;T;T;T	0.87491	-2.26;-0.65;-0.71;-0.64;0.4	5.12	3.29	0.37713	.	0.000000	0.85682	D	0.000000	D	0.87755	0.6257	L	0.43152	1.355	0.58432	D	0.999998	D;B	0.55385	0.971;0.397	P;B	0.55455	0.776;0.135	D	0.88511	0.3089	10	0.72032	D	0.01	.	12.6129	0.56560	0.1428:0.0:0.8572:0.0	.	330;330	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	N	330;330;330;595;169	ENSP00000387174:K330N;ENSP00000307634:K330N;ENSP00000338378:K330N;ENSP00000386897:K595N;ENSP00000411824:K169N	ENSP00000307634:K330N	K	+	3	2	AGAP1	236380654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.470000	0.53100	1.299000	0.44798	0.655000	0.94253	AAG		0.587	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		7	108	1	0	1.12685e-05	1	1.27857e-05	7	108				
KLHDC8B	200942	broad.mit.edu	37	3	49210220	49210220	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49210220C>T	ENST00000332780.2	+	2	227	c.18C>T	c.(16-18)ggC>ggT	p.G6G	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	6						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGAGGTGGCCGGGCCTTTG	0.612																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(16-18)ggC>ggT		kelch domain containing 8B							44.0	43.0	44.0					3																	49210220		2203	4300	6503	SO:0001819	synonymous_variant	200942					cytoplasm		g.chr3:49210220C>T		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.18C>T	3.37:g.49210220C>T						KLHDC8B_ENST00000476495.2_3'UTR	p.G6G	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	227	+			6						Silent	SNP	ENST00000332780.2	37	c.18C>T	CCDS2791.1																																																																																				0.612	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		11	14	0	0	0	1	0	11	14				
CHEK2	11200	broad.mit.edu	37	22	29121015	29121015	+	Missense_Mutation	SNP	C	C	T	rs121908701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121015C>T	ENST00000405598.1	-	5	733	c.542G>A	c.(541-543)cGt>cAt	p.R181H	CHEK2_ENST00000404276.1_Missense_Mutation_p.R181H|CHEK2_ENST00000382566.1_Missense_Mutation_p.R181H|CHEK2_ENST00000382580.2_Missense_Mutation_p.R224H|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.R181H|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.R181H|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.R181H|CHEK2_ENST00000403642.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	181			R -> C (in prostate cancer; somatic mutation; dbSNP:rs137853010). {ECO:0000269|PubMed:12533788}.|R -> H (in prostate cancer; somatic mutation; dbSNP:rs121908701). {ECO:0000269|PubMed:12533788}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ATTCAAAGGACGGCGTTTTCC	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50	GRCh37	CM030420	CHEK2	M	rs121908701	c.(670-672)cGt>cAt	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	89.0	89.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	671,542,542	3.8	1.0	22	dbSNP_133	89	0,8598		0,0,4299	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	29,29,29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	224/587,181/544,181/515	29121015	1,13003	2203	4299	6502	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121015C>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.542G>A	22.37:g.29121015C>T	ENSP00000386087:p.Arg181His					CHEK2_ENST00000328354.6_Missense_Mutation_p.R181H|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.R181H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R181H|CHEK2_ENST00000382566.1_Missense_Mutation_p.R181H|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.R181H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R181H	p.R224H	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			5	746	-			181			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.671G>A	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.769132	0.31320	2.27E-4	0.0	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000439200	D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.87	3.78	0.43462	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.241030	0.42172	D	0.000746	T	0.70527	0.3234	N	0.16037	0.36	0.31800	N	0.628525	B;B;B;B;B	0.30104	0.073;0.002;0.001;0.008;0.268	B;B;B;B;B	0.19946	0.02;0.006;0.002;0.017;0.027	T	0.65113	-0.6247	10	0.15066	T	0.55	-13.7043	7.2288	0.26030	0.6625:0.2256:0.0:0.1118	.	181;181;181;181;224	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	H	181;181;181;181;181;224;181;212	ENSP00000329012:R181H;ENSP00000372007:R181H;ENSP00000329178:R181H;ENSP00000385747:R181H;ENSP00000386087:R181H;ENSP00000372023:R224H;ENSP00000384835:R181H;ENSP00000408065:R212H	ENSP00000329178:R181H	R	-	2	0	CHEK2	27451015	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	3.422000	0.52749	0.641000	0.30601	-0.225000	0.12378	CGT		0.353	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		19	51	0	0	0	1	0	19	51				
NOL6	65083	broad.mit.edu	37	9	33468871	33468871	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33468871C>A	ENST00000379471.2	-	8	1114		c.e8-1		NOL6_ENST00000455041.2_Splice_Site|NOL6_ENST00000464829.1_Splice_Site			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)						rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACCCTGGCCCTGAAAGAGAC	0.592																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.e8-1		nucleolar protein 6 (RNA-associated)							122.0	127.0	125.0					9																	33468871		2203	4300	6503	SO:0001630	splice_region_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468871C>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1027-1G>T	9.37:g.33468871C>A						NOL6_ENST00000464829.1_Splice_Site|NOL6_ENST00000455041.2_Splice_Site				Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	8	1114	-								Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Splice_Site	SNP	ENST00000379471.2	37			.	.	.	.	.	.	.	.	.	.	C	9.927	1.213657	0.22289	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	.	.	.	5.08	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5718	0.61851	0.0:0.9219:0.0:0.078	.	.	.	.	.	-1	.	.	.	-	.	.	NOL6	33458871	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	7.027000	0.76463	2.377000	0.81083	0.561000	0.74099	.		0.592	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	Intron	48	102	1	0	2.27781e-18	1	2.96919e-18	48	102				
SOX7	83595	broad.mit.edu	37	8	10583854	10583854	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583854G>A	ENST00000304501.1	-	2	639	c.561C>T	c.(559-561)ggC>ggT	p.G187G	SOX7_ENST00000554914.1_Silent_p.G239G|SOX7_ENST00000553390.1_Silent_p.G239G|CTD-2135J3.3_ENST00000506149.2_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	187					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGCCGCCGCCGCCACCAC	0.701																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(559-561)ggC>ggT		SRY (sex determining region Y)-box 7							13.0	15.0	14.0					8																	10583854		2168	4241	6409	SO:0001819	synonymous_variant	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583854G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.561C>T	8.37:g.10583854G>A						SOX7_ENST00000553390.1_Silent_p.G239G|SOX7_ENST00000554914.1_Silent_p.G239G	p.G187G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	639	-			187					B4DKV0|Q53YD0	Silent	SNP	ENST00000304501.1	37	c.561C>T	CCDS5977.1																																																																																				0.701	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			10	7	0	0	0	1	0	10	7				
ZNF799	90576	broad.mit.edu	37	19	12501583	12501583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12501583C>T	ENST00000430385.3	-	4	1829	c.1629G>A	c.(1627-1629)tgG>tgA	p.W543*	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Nonsense_Mutation_p.W511*	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGCAAGTGAGCCAAGAGAATG	0.398																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1531-1533)tgG>tgA		zinc finger protein 799							87.0	89.0	88.0					19																	12501583		2197	4294	6491	SO:0001587	stop_gained	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501583C>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1629G>A	19.37:g.12501583C>T	ENSP00000411084:p.Trp543*					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Nonsense_Mutation_p.W543*	p.W511*			Q96GE5	ZN799_HUMAN			4	2282	-			543						Nonsense_Mutation	SNP	ENST00000430385.3	37	c.1533G>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	38	6.967549	0.97971	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	.	.	.	1.53	-2.92	0.05615	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	3.4815	0.07603	0.3539:0.3964:0.0:0.2497	.	.	.	.	X	511;543	.	ENSP00000415278:W511X	W	-	3	0	ZNF799	12362583	0.084000	0.21492	0.000000	0.03702	0.037000	0.13140	0.878000	0.28126	-0.833000	0.04245	0.430000	0.28490	TGG		0.398	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		26	39	0	0	0	1	0	26	39				
GABRR1	2569	broad.mit.edu	37	6	89891699	89891699	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89891699C>T	ENST00000454853.2	-	8	984	c.874G>A	c.(874-876)Gct>Act	p.A292T	GABRR1_ENST00000369451.3_Missense_Mutation_p.A205T|GABRR1_ENST00000435811.1_Missense_Mutation_p.A275T	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	292					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A286T(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATCAGGGTAGCGGGGAAATAA	0.507																																						ENST00000435811.1																			3	Substitution - Missense(3)	p.A286T(3)	haematopoietic_and_lymphoid_tissue(3)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(823-825)Gct>Act		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						167.0	152.0	157.0					6																	89891699		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89891699C>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.874G>A	6.37:g.89891699C>T	ENSP00000412673:p.Ala292Thr					GABRR1_ENST00000454853.2_Missense_Mutation_p.A292T|GABRR1_ENST00000369451.3_Missense_Mutation_p.A205T	p.A275T	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	7	1277	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	292					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.823G>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710459	0.89018	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.85484	-1.99;-1.99;-1.99	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	L	0.38649	1.16	0.80722	D	1	D;D	0.55385	0.964;0.971	P;P	0.56474	0.477;0.799	T	0.82317	-0.0517	9	.	.	.	-32.0355	19.3843	0.94550	0.0:1.0:0.0:0.0	.	275;292	P24046-2;P24046	.;GBRR1_HUMAN	T	292;275;205;205	ENSP00000412673:A292T;ENSP00000394687:A275T;ENSP00000358463:A205T	.	A	-	1	0	GABRR1	89948418	1.000000	0.71417	0.955000	0.39395	0.826000	0.46750	6.089000	0.71384	2.574000	0.86865	0.563000	0.77884	GCT		0.507	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			31	49	0	0	0	1	0	31	49				
NEXN	91624	broad.mit.edu	37	1	78392297	78392297	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78392297G>A	ENST00000334785.7	+	7	871		c.e7+1		NEXN_ENST00000457030.1_Splice_Site|NEXN_ENST00000330010.8_Splice_Site	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ATTAGTTATGGTAAATTTTTG	0.323																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.e6+1		nexilin (F actin binding protein)							109.0	109.0	109.0					1																	78392297		1827	4081	5908	SO:0001630	splice_region_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392297G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.687+1G>A	1.37:g.78392297G>A						NEXN_ENST00000334785.7_Splice_Site|NEXN_ENST00000457030.1_Splice_Site		NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	6	792	+									Splice_Site	SNP	ENST00000334785.7	37		CCDS41351.1	.	.	.	.	.	.	.	.	.	.	G	7.414	0.635248	0.14322	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324;ENST00000342754	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9781	0.97315	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEXN	78164885	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	4.219000	0.58561	2.792000	0.96026	0.655000	0.94253	.		0.323	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	Intron	84	59	0	0	0	1	0	84	59				
ATM	472	broad.mit.edu	37	11	108163493	108163493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163493G>A	ENST00000452508.2	+	31	4773	c.4584G>A	c.(4582-4584)gtG>gtA	p.V1528V	ATM_ENST00000278616.4_Silent_p.V1528V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1528					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TACCCCTTGTGTATGAGCAGG	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4582-4584)gtG>gtA	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							190.0	167.0	175.0					11																	108163493		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108163493G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4584G>A	11.37:g.108163493G>A		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.V1528V	p.V1528V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	30	4969	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1528					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.4584G>A	CCDS31669.1																																																																																				0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		59	105	0	0	0	1	0	59	105				
LAMB1	3912	broad.mit.edu	37	7	107600145	107600145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107600145C>T	ENST00000222399.6	-	19	2679	c.2449G>A	c.(2449-2451)Gga>Aga	p.G817R	LAMB1_ENST00000393561.1_Missense_Mutation_p.G841R|LAMB1_ENST00000393560.1_Missense_Mutation_p.G817R	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	817	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CGTTTGCATCCACTGGGGCCA	0.532																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2521-2523)Gga>Aga		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65.0	63.0	64.0					7																	107600145		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600145C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2449G>A	7.37:g.107600145C>T	ENSP00000222399:p.Gly817Arg					LAMB1_ENST00000393560.1_Missense_Mutation_p.G817R|LAMB1_ENST00000222399.6_Missense_Mutation_p.G817R	p.G841R			P07942	LAMB1_HUMAN			17	2705	-			817			Laminin EGF-like 7.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2521G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624090	0.87560	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.62941	-0.01;-0.01;-0.01	5.31	5.31	0.75309	EGF-like, laminin (4);	.	.	.	.	D	0.85513	0.5714	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.982;1.0	D	0.88835	0.3308	9	0.66056	D	0.02	.	19.1741	0.93597	0.0:1.0:0.0:0.0	.	817;817;841	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	R	841;817;817	ENSP00000377191:G841R;ENSP00000222399:G817R;ENSP00000377190:G817R	ENSP00000222399:G817R	G	-	1	0	LAMB1	107387381	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.320000	0.79064	2.759000	0.94783	0.563000	0.77884	GGA		0.532	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		12	34	0	0	0	1	0	12	34				
MAP3K15	389840	broad.mit.edu	37	X	19389624	19389624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389624C>T	ENST00000338883.4	-	23	3132	c.3133G>A	c.(3133-3135)Gtt>Att	p.V1045I	MAP3K15_ENST00000359173.3_Missense_Mutation_p.V480I|MAP3K15_ENST00000469203.2_Missense_Mutation_p.V877I|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1045							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATGTGTCCAACTGAGAGATGC	0.483																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3133-3135)Gtt>Att		mitogen-activated protein kinase kinase kinase 15							111.0	88.0	96.0					X																	19389624		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389624C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3133G>A	X.37:g.19389624C>T	ENSP00000345629:p.Val1045Ile					MAP3K15_ENST00000469203.2_Missense_Mutation_p.V877I|MAP3K15_ENST00000359173.3_Missense_Mutation_p.V480I|MAP3K15_ENST00000518578.1_5'UTR	p.V1045I	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			23	3132	-	Hepatocellular(33;0.183)		1045					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3133G>A		.	.	.	.	.	.	.	.	.	.	C	12.61	1.989856	0.35131	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72835	-0.64;-0.69;-0.63	5.64	-0.45	0.12223	.	0.472937	0.22589	N	0.058103	T	0.59280	0.2182	M	0.68317	2.08	0.09310	N	1	B;B	0.25955	0.138;0.034	B;B	0.23852	0.049;0.021	T	0.45234	-0.9275	10	0.22109	T	0.4	.	4.982	0.14170	0.2217:0.456:0.0:0.3223	.	520;1045	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	I	1045;480;877	ENSP00000345629:V1045I;ENSP00000352093:V480I;ENSP00000428356:V877I	ENSP00000345629:V1045I	V	-	1	0	MAP3K15	19299545	0.000000	0.05858	0.000000	0.03702	0.820000	0.46376	0.109000	0.15417	-0.648000	0.05437	0.506000	0.49869	GTT		0.483	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		7	93	0	0	0	1	0	7	93				
KNOP1	400506	broad.mit.edu	37	16	19725574	19725574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19725574G>T	ENST00000219837.7	-	2	862	c.784C>A	c.(784-786)Cct>Act	p.P262T	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank|IQCK_ENST00000320394.6_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	262	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GAGGCCTTAGGGTCATCACTT	0.483																																						ENST00000219837.7																			0											c.(784-786)Cct>Act		lysine-rich nucleolar protein 1							79.0	88.0	85.0					16																	19725574		2166	4288	6454	SO:0001583	missense	400506							g.chr16:19725574G>T	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.784C>A	16.37:g.19725574G>T	ENSP00000219837:p.Pro262Thr					AC002550.5_ENST00000565916.1_RNA	p.P262T	NM_001012991.2	NP_001013009.2					2	862	-								O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.784C>A	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	G	4.014	-0.000015	0.07819	.	.	ENSG00000103550	ENST00000219837	T	0.23348	1.91	4.84	0.745	0.18359	.	1.521590	0.04346	N	0.354797	T	0.21631	0.0521	L	0.27053	0.805	0.09310	N	1	P	0.36909	0.573	B	0.40901	0.343	T	0.28744	-1.0034	9	.	.	.	-0.6647	6.92	0.24383	0.371:0.0:0.629:0.0	.	262	Q1ED39	CP088_HUMAN	T	262	ENSP00000219837:P262T	.	P	-	1	0	C16orf88	19633075	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.029000	0.13666	0.082000	0.17018	0.655000	0.94253	CCT		0.483	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		10	95	1	0	1.76689e-08	1	2.11513e-08	10	95				
GOLGA8EP	390535	broad.mit.edu	37	15	23441138	23441138	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23441138G>T	ENST00000526079.1	+	0	1217				RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		AGACGCTGGAGAGGAGCTTGT	0.567																																						ENST00000526079.1																			0																				68.0	81.0	77.0					15																	23441138		1374	2556	3930			0							g.chr15:23441138G>T			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23441138G>T								NR_027407.1|NR_033350.1						0	1217	+									RNA	SNP	ENST00000526079.1	37																																																																																						0.567	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		6	138	1	0	0.000673444	1	0.000724755	6	138				
GABPB1	2553	broad.mit.edu	37	15	50570879	50570879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570879G>A	ENST00000220429.8	-	9	1306	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	GABPB1_ENST00000380877.3_Nonsense_Mutation_p.Q368*|GABPB1_ENST00000543881.1_Nonsense_Mutation_p.Q304*			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	380					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TCCAACTTCTGTCTGTAGGCC	0.383																																						ENST00000380877.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(1102-1104)Cag>Tag		GA binding protein transcription factor, beta subunit 1							168.0	153.0	158.0					15																	50570879		2195	4295	6490	SO:0001587	stop_gained	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50570879G>A	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.1138C>T	15.37:g.50570879G>A	ENSP00000220429:p.Gln380*					GABPB1_ENST00000543881.1_Nonsense_Mutation_p.Q304*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.Q380*	p.Q368*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN			9	1525	-			380					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Nonsense_Mutation	SNP	ENST00000220429.8	37	c.1102C>T	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711582	0.89112	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881	.	.	.	5.92	5.0	0.66597	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.203	15.505	0.75731	0.0673:0.0:0.9327:0.0	.	.	.	.	X	368;380;304	.	ENSP00000220429:Q368X	Q	-	1	0	GABPB1	48358171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.145000	0.64839	2.801000	0.96364	0.650000	0.86243	CAG		0.383	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			10	86	0	0	0	1	0	10	86				
FAM175B	23172	broad.mit.edu	37	10	126518046	126518046	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126518046G>T	ENST00000298492.5	+	7	708	c.663G>T	c.(661-663)caG>caT	p.Q221H		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	221					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						AGAAAGTTCAGGTAACTGATT	0.328																																						ENST00000298492.5																			0				NS(1)	1						c.e7+1		family with sequence similarity 175, member B							148.0	149.0	149.0					10																	126518046		2203	4300	6503	SO:0001630	splice_region_variant	23172					BRISC complex	polyubiquitin binding	g.chr10:126518046G>T	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.663+1G>T	10.37:g.126518046G>T							p.Q221_splice	NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN			7	708	+			221					B4DKR2|Q96H11	Splice_Site	SNP	ENST00000298492.5	37	c.663_splice	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424155	0.83667	.	.	ENSG00000165660	ENST00000298492	T	0.52057	0.68	5.39	5.39	0.77823	.	0.101764	0.64402	D	0.000001	T	0.50446	0.1616	L	0.53249	1.67	0.80722	D	1	P	0.42941	0.794	B	0.41813	0.367	T	0.56341	-0.7995	10	0.72032	D	0.01	-42.0074	19.1488	0.93479	0.0:0.0:1.0:0.0	.	221	Q15018	F175B_HUMAN	H	221	ENSP00000298492:Q221H	ENSP00000298492:Q221H	Q	+	3	2	FAM175B	126508036	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.294000	0.96088	2.514000	0.84764	0.561000	0.74099	CAG		0.328	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182	Missense_Mutation	6	53	1	0	5.9392e-07	1	6.91975e-07	6	53				
SMG5	23381	broad.mit.edu	37	1	156228930	156228930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156228930G>A	ENST00000361813.5	-	16	2452	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	770					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAAAGCTGCGGATGCAGCAG	0.612																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(2308-2310)Cgc>Tgc		SMG5 nonsense mediated mRNA decay factor							59.0	54.0	55.0					1																	156228930		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156228930G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2308C>T	1.37:g.156228930G>A	ENSP00000355261:p.Arg770Cys					SMG5_ENST00000368267.4_Intron	p.R770C	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			16	2452	-	Hepatocellular(266;0.158)		770					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.2308C>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107550	0.94292	.	.	ENSG00000198952	ENST00000361813	T	0.18338	2.22	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.959;0.984	T	0.02179	-1.1200	10	0.87932	D	0	-19.3219	18.4764	0.90793	0.0:0.0:1.0:0.0	.	39;770	Q96SX4;Q9UPR3	.;SMG5_HUMAN	C	770	ENSP00000355261:R770C	ENSP00000355261:R770C	R	-	1	0	SMG5	154495554	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.434000	0.97515	2.713000	0.92767	0.655000	0.94253	CGC		0.612	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		19	22	0	0	0	1	0	19	22				
CENPE	1062	broad.mit.edu	37	4	104068633	104068633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104068633T>C	ENST00000265148.3	-	29	4103	c.4014A>G	c.(4012-4014)caA>caG	p.Q1338Q	CENPE_ENST00000380026.3_Silent_p.Q1313Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1338					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTGACTTTCTTGAAATTTTT	0.368																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(4012-4014)caA>caG		centromere protein E, 312kDa							165.0	157.0	159.0					4																	104068633		2203	4299	6502	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104068633T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4014A>G	4.37:g.104068633T>C						CENPE_ENST00000380026.3_Silent_p.Q1313Q	p.Q1338Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	29	4103	-			1338					A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.4014A>G	CCDS34042.1																																																																																				0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	92	0	0	0	1	0	3	92				
TMEM211	255349	broad.mit.edu	37	22	25334157	25334157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25334157C>A	ENST00000423535.1	-	2	298	c.299G>T	c.(298-300)aGg>aTg	p.R100M	TMEM211_ENST00000407886.1_Missense_Mutation_p.R29M|TMEM211_ENST00000382744.1_Missense_Mutation_p.R29M			Q6ICI0	TM211_HUMAN	transmembrane protein 211	100						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACTGCTTCTCCTTGGGCACAG	0.532																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(85-87)aGg>aTg		transmembrane protein 211							103.0	82.0	89.0					22																	25334157		2203	4300	6503	SO:0001583	missense	255349					integral to membrane		g.chr22:25334157C>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.299G>T	22.37:g.25334157C>A	ENSP00000387813:p.Arg100Met					TMEM211_ENST00000423535.1_Missense_Mutation_p.R100M|TMEM211_ENST00000382744.1_Missense_Mutation_p.R29M	p.R29M			Q6ICI0	TM211_HUMAN			3	338	-			100						Missense_Mutation	SNP	ENST00000423535.1	37	c.86G>T		.	.	.	.	.	.	.	.	.	.	C	9.591	1.126212	0.20959	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	T;T;T	0.80214	-1.35;-0.7;-1.35	4.17	1.91	0.25777	.	0.425543	0.21364	N	0.075752	D	0.85452	0.5700	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.73745	-0.3886	10	0.72032	D	0.01	-22.9777	6.6015	0.22703	0.1785:0.7192:0.0:0.1024	.	100	Q6ICI0	TM211_HUMAN	M	29;100;29	ENSP00000385494:R29M;ENSP00000387813:R100M;ENSP00000372192:R29M	ENSP00000372192:R29M	R	-	2	0	TMEM211	23664157	0.002000	0.14202	0.002000	0.10522	0.089000	0.18198	1.428000	0.34892	1.106000	0.41623	0.555000	0.69702	AGG		0.532	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		4	62	1	0	0.184627	1	0.186383	4	62				
TTC39A	22996	broad.mit.edu	37	1	51787393	51787393	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51787393C>A	ENST00000447632.2	-	2	197	c.149G>T	c.(148-150)aGa>aTa	p.R50I	TTC39A_ENST00000371750.5_Splice_Site_p.R50I|TTC39A_ENST00000262676.5_Splice_Site_p.R46I|TTC39A_ENST00000451380.1_Splice_Site_p.R49I|TTC39A_ENST00000262675.7_Splice_Site_p.R22I|TTC39A_ENST00000371747.3_Splice_Site_p.R49I|TTC39A_ENST00000413473.2_Splice_Site_p.R53I			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	50								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGAGCCTCACCTGGGCTTGAG	0.582																																						ENST00000262676.5																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						c.e2+1		tetratricopeptide repeat domain 39A							51.0	52.0	52.0					1																	51787393		1962	4148	6110	SO:0001630	splice_region_variant	22996						binding	g.chr1:51787393C>A	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.149+1G>T	1.37:g.51787393C>A						TTC39A_ENST00000413473.2_Splice_Site_p.R53_splice|TTC39A_ENST00000371750.5_Splice_Site_p.R50_splice|TTC39A_ENST00000451380.1_Splice_Site_p.R49_splice|TTC39A_ENST00000447632.2_Splice_Site_p.R50_splice|TTC39A_ENST00000371747.3_Splice_Site_p.R49_splice|TTC39A_ENST00000262675.7_Splice_Site_p.R22_splice	p.R46_splice			Q5SRH9	TT39A_HUMAN			2	297	-			50					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Splice_Site	SNP	ENST00000447632.2	37	c.137_splice		.	.	.	.	.	.	.	.	.	.	c	15.56	2.868751	0.51588	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925;ENST00000380849;ENST00000401051;ENST00000532836;ENST00000527205	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.14	4.02	0.46733	.	0.111860	0.64402	D	0.000012	T	0.56558	0.1993	M	0.66939	2.045	0.54753	D	0.999986	B;B;P;D;P;B;P	0.71674	0.147;0.27;0.859;0.998;0.859;0.172;0.83	B;B;P;D;P;B;P	0.67382	0.142;0.285;0.707;0.951;0.707;0.285;0.583	T	0.56147	-0.8027	9	.	.	.	-10.4701	9.4611	0.38785	0.0:0.8852:0.0:0.1147	.	53;49;22;46;49;50;50	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	I	50;53;22;49;50;49;46;22;49;22;22;53;22;77	ENSP00000393952:R50I;ENSP00000406144:R53I;ENSP00000262675:R22I;ENSP00000397207:R49I;ENSP00000360815:R50I;ENSP00000360812:R49I;ENSP00000262676:R46I;ENSP00000408532:R22I;ENSP00000405803:R49I;ENSP00000388995:R22I;ENSP00000370230:R22I;ENSP00000383830:R53I;ENSP00000434483:R22I;ENSP00000432453:R77I	.	R	-	2	0	TTC39A	51559981	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	1.433000	0.34947	2.372000	0.80975	0.387000	0.25754	AGA		0.582	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		Missense_Mutation	8	19	1	0	0.00621372	1	0.00652201	8	19				
TRPC4	7223	broad.mit.edu	37	13	38211112	38211112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211112G>T	ENST00000379705.3	-	11	3719	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	TRPC4_ENST00000379679.1_Missense_Mutation_p.D781E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.D813E|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805E|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870E|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781E|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959E|TRPC4_ENST00000447043.1_Missense_Mutation_p.D813E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATACTAGAGTCCTCTTCTT	0.443																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2860-2862)gaC>gaA		transient receptor potential cation channel, subfamily C, member 4							163.0	144.0	150.0					13																	38211112		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211112G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2862C>A	13.37:g.38211112G>T	ENSP00000369027:p.Asp954Glu					TRPC4_ENST00000355779.2_Missense_Mutation_p.D813E|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959E|TRPC4_ENST00000447043.1_Missense_Mutation_p.D813E|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805E|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781E|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870E	p.D954E			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3719	-			954			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2862C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770798	0.15983	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.73681	-0.25;-0.26;-0.06;-0.06;0.01;-0.42;-0.77;0.01	5.67	1.88	0.25563	.	0.964230	0.08640	N	0.915722	T	0.72811	0.3507	N	0.19112	0.55	0.42849	D	0.994074	B;B;P;B;B;B	0.47910	0.017;0.116;0.902;0.0;0.3;0.039	B;B;D;B;B;B	0.64595	0.021;0.064;0.927;0.002;0.205;0.023	T	0.62258	-0.6892	10	0.36615	T	0.2	-24.3249	5.1498	0.15004	0.3168:0.1384:0.5448:0.0	.	813;805;959;781;870;954	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	E	954;959;781;781;813;870;805;813	ENSP00000369027:D954E;ENSP00000369003:D959E;ENSP00000342580:D781E;ENSP00000369001:D781E;ENSP00000348025:D813E;ENSP00000351264:D870E;ENSP00000368995:D805E;ENSP00000414316:D813E	ENSP00000342580:D781E	D	-	3	2	TRPC4	37109112	0.401000	0.25303	0.620000	0.29132	0.135000	0.20990	0.563000	0.23547	0.040000	0.15660	0.655000	0.94253	GAC		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		20	52	1	0	5.03518e-11	1	6.25324e-11	20	52				
LPP	4026	broad.mit.edu	37	3	188327202	188327202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188327202C>A	ENST00000312675.4	+	6	929	c.683C>A	c.(682-684)gCc>gAc	p.A228D	LPP_ENST00000543006.1_Missense_Mutation_p.A228D|LPP_ENST00000448637.1_Missense_Mutation_p.A228D|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	228	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGAAGTCAGCCCAGCCCAGC	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(682-684)gCc>gAc		LIM domain containing preferred translocation partner in lipoma							63.0	64.0	64.0					3																	188327202		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327202C>A	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.683C>A	3.37:g.188327202C>A	ENSP00000318089:p.Ala228Asp					LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.A228D|LPP_ENST00000448637.1_Missense_Mutation_p.A228D	p.A228D	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	929	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	228			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.683C>A	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840556	0.91197	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.64260	0.29;-0.09;-0.09;0.04	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.917	T	0.63060	-0.6721	10	0.17369	T	0.5	.	18.8095	0.92053	0.0:1.0:0.0:0.0	.	228;228	C9JUT4;Q93052	.;LPP_HUMAN	D	228;228;228;65	ENSP00000393602:A228D;ENSP00000318089:A228D;ENSP00000438891:A228D;ENSP00000393008:A65D	ENSP00000318089:A228D	A	+	2	0	LPP	189809896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.880000	0.75578	2.775000	0.95449	0.650000	0.86243	GCC		0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		27	31	1	0	7.07758e-08	1	8.39993e-08	27	31				
CARD9	64170	broad.mit.edu	37	9	139265507	139265507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139265507C>T	ENST00000371732.5	-	4	578	c.413G>A	c.(412-414)aGc>aAc	p.S138N	CARD9_ENST00000371734.3_Missense_Mutation_p.S138N|CARD9_ENST00000315908.7_Missense_Mutation_p.S138N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	138					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ATCTTTGGAGCTCAGCAGCGC	0.622																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(412-414)aGc>aAc		caspase recruitment domain family, member 9							44.0	39.0	40.0					9																	139265507		2198	4297	6495	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265507C>T	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.413G>A	9.37:g.139265507C>T	ENSP00000360797:p.Ser138Asn					CARD9_ENST00000371734.3_Missense_Mutation_p.S138N|CARD9_ENST00000315908.7_Missense_Mutation_p.S138N	p.S138N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	4	578	-		Myeloproliferative disorder(178;0.0511)	138					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.413G>A	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754440	0.15778	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.33654	1.4;1.4;1.4	4.72	3.81	0.43845	.	0.650445	0.15618	N	0.253060	T	0.24160	0.0585	L	0.40543	1.245	0.26149	N	0.980174	B;B;B;B	0.34015	0.372;0.435;0.201;0.201	B;B;B;B	0.30572	0.074;0.117;0.055;0.055	T	0.12941	-1.0528	10	0.26408	T	0.33	-22.205	4.9169	0.13851	0.0:0.6286:0.1903:0.1812	.	34;138;138;138	B4DIK5;Q9H257-2;Q5SXM5;Q9H257	.;.;.;CARD9_HUMAN	N	138	ENSP00000360799:S138N;ENSP00000360797:S138N;ENSP00000323719:S138N	ENSP00000323719:S138N	S	-	2	0	CARD9	138385328	0.220000	0.23631	0.999000	0.59377	0.439000	0.31926	0.107000	0.15375	0.958000	0.37956	0.563000	0.77884	AGC		0.622	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		5	15	0	0	0	1	0	5	15				
NDUFA10	4705	broad.mit.edu	37	2	240944661	240944661	+	Nonsense_Mutation	SNP	G	G	A	rs201842545		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240944661G>A	ENST00000252711.2	-	8	956	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	NDUFA10_ENST00000307300.4_Nonsense_Mutation_p.Q316*|NDUFA10_ENST00000404554.1_Nonsense_Mutation_p.Q286*	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	286					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CGATTGTCCTGCTTGAGCCAC	0.458																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(856-858)Cag>Tag		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						160.0	151.0	154.0					2																	240944661		2203	4300	6503	SO:0001587	stop_gained	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240944661G>A	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.856C>T	2.37:g.240944661G>A	ENSP00000252711:p.Gln286*					NDUFA10_ENST00000404554.1_Nonsense_Mutation_p.Q286*|NDUFA10_ENST00000307300.4_Nonsense_Mutation_p.Q316*	p.Q286*	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	8	956	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	286					Q8WXC9	Nonsense_Mutation	SNP	ENST00000252711.2	37	c.856C>T	CCDS2531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.67|18.67	3.673132|3.673132	0.67928|0.67928	.|.	.|.	ENSG00000130414|ENSG00000130414	ENST00000444548|ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000448880;ENST00000307300	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.71660|.	0.3366|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73404|.	-0.3993|.	4|.	.|0.51188	.|T	.|0.08	-36.7125|-36.7125	13.5227|13.5227	0.61576|0.61576	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	56|51;286;286;286;49;316	.|.	.|ENSP00000252711:Q286X	A|Q	-|-	2|1	0|0	NDUFA10|NDUFA10	240593334|240593334	1.000000|1.000000	0.71417|0.71417	0.104000|0.104000	0.21259|0.21259	0.011000|0.011000	0.07611|0.07611	6.792000|6.792000	0.75125|0.75125	2.335000|2.335000	0.79485|0.79485	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.458	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		10	93	0	0	0	1	0	10	93				
ATXN1	6310	broad.mit.edu	37	6	16306647	16306647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16306647G>A	ENST00000244769.4	-	9	3297	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	ATXN1_ENST00000436367.1_Silent_p.D787D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	787	Interaction with USP7.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AAGGTGGTTCGTCTTCTGACT	0.547																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(2359-2361)gaC>gaT		ataxin 1							101.0	94.0	96.0					6																	16306647		2203	4300	6503	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16306647G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2361C>T	6.37:g.16306647G>A						ATXN1_ENST00000436367.1_Silent_p.D787D	p.D787D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			9	3297	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	787			Interaction with USP7.		Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.2361C>T	CCDS34342.1																																																																																				0.547	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		34	56	0	0	0	1	0	34	56				
FEZF1	389549	broad.mit.edu	37	7	121944563	121944563	+	5'Flank	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121944563G>T	ENST00000442488.2	-	0	0				FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_5'Flank|FEZF1_ENST00000331178.4_5'Flank|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1						axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTGTCACAGACCTGCGGAG	0.652																																						ENST00000428449.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr7:121944563G>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091		7.37:g.121944563G>T	Exception_encountered							NR_036484.1						0	611	+								A0PJY3|A4D0W3|B4DUP9|B7ZM98	RNA	SNP	ENST00000442488.2	37		CCDS34741.2																																																																																				0.652	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		5	12	1	0	0.0215528	1	0.0221649	5	12				
TDRD3	81550	broad.mit.edu	37	13	61060002	61060002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61060002C>T	ENST00000196169.3	+	7	1146	c.358C>T	c.(358-360)Cct>Tct	p.P120S	TDRD3_ENST00000377894.2_Missense_Mutation_p.P120S|TDRD3_ENST00000535286.1_Missense_Mutation_p.P213S|TDRD3_ENST00000377881.2_Missense_Mutation_p.P120S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	120					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGTTACAATGCCTGTCAAACC	0.353																																					Colon(36;164 906 35820 50723)	ENST00000196169.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(358-360)Cct>Tct		tudor domain containing 3							117.0	104.0	108.0					13																	61060002		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61060002C>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.358C>T	13.37:g.61060002C>T	ENSP00000196169:p.Pro120Ser					TDRD3_ENST00000377881.2_Missense_Mutation_p.P120S|TDRD3_ENST00000377894.2_Missense_Mutation_p.P120S|TDRD3_ENST00000535286.1_Missense_Mutation_p.P213S	p.P120S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	7	1146	+		Prostate(109;0.173)|Breast(118;0.174)	120					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.358C>T	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465229	0.43839	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.54	5.54	0.83059	.	0.321814	0.33631	N	0.004720	D	0.83248	0.5213	N	0.14661	0.345	0.31744	N	0.635399	P;P;B	0.38078	0.459;0.617;0.323	B;B;B	0.33960	0.173;0.121;0.079	T	0.81276	-0.1006	10	0.09590	T	0.72	-4.833	10.263	0.43438	0.1261:0.578:0.2959:0.0	.	213;119;120	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	S	120;120;120;213;120	ENSP00000196169:P120S;ENSP00000367113:P120S;ENSP00000367126:P120S;ENSP00000440190:P213S	ENSP00000196169:P120S	P	+	1	0	TDRD3	59958003	0.844000	0.29557	1.000000	0.80357	0.955000	0.61496	1.712000	0.37940	2.610000	0.88304	0.655000	0.94253	CCT		0.353	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		14	26	0	0	0	1	0	14	26				
SULT1C2	6819	broad.mit.edu	37	2	108921684	108921684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921684C>T	ENST00000437390.2	+	6	778	c.601C>T	c.(601-603)Cac>Tac	p.H201Y	SULT1C2_ENST00000251481.6_Missense_Mutation_p.H187Y|SULT1C2_ENST00000409880.1_Missense_Mutation_p.H150Y|SULT1C2_ENST00000326853.5_Missense_Mutation_p.H198Y			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	193					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAAAGACAGACACCAGATTCT	0.438																																						ENST00000326853.5																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(592-594)Cac>Tac		sulfotransferase family, cytosolic, 1C, member 2							216.0	202.0	207.0					2																	108921684		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921684C>T	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.601C>T	2.37:g.108921684C>T	ENSP00000399651:p.His201Tyr					SULT1C2_ENST00000437390.2_Missense_Mutation_p.H201Y|SULT1C2_ENST00000409880.1_Missense_Mutation_p.H150Y|SULT1C2_ENST00000251481.6_Missense_Mutation_p.H187Y	p.H198Y	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN			7	1045	+			187					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.592C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.167|7.167	0.586926|0.586926	0.13749|0.13749	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390|ENST00000409067	T;T;T;T|.	0.01725|.	4.67;4.67;4.67;4.67|.	4.64|4.64	-3.95|-3.95	0.04118|0.04118	Sulfotransferase domain (1);|.	0.700951|.	0.13173|.	N|.	0.408087|.	T|T	0.27663|0.27663	0.0680|0.0680	L|L	0.28344|0.28344	0.845|0.845	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.12630|.	0.003;0.001;0.006;0.006|.	B;B;B;B|.	0.16289|.	0.009;0.001;0.015;0.009|.	T|T	0.35822|0.35822	-0.9773|-0.9773	10|5	0.15066|.	T|.	0.55|.	.|.	8.1556|8.1556	0.31167|0.31167	0.0:0.578:0.1551:0.2669|0.0:0.578:0.1551:0.2669	.|.	201;102;187;198|.	B4DLP0;B4DPE8;O00338;O00338-2|.	.;.;ST1C2_HUMAN;.|.	Y|I	187;198;150;201|183	ENSP00000251481:H187Y;ENSP00000319622:H198Y;ENSP00000387054:H150Y;ENSP00000399651:H201Y|.	ENSP00000251481:H187Y|.	H|T	+|+	1|2	0|0	SULT1C2|SULT1C2	108288116|108288116	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.981000|0.981000	0.71138|0.71138	0.173000|0.173000	0.16724|0.16724	-0.474000|-0.474000	0.06862|0.06862	-0.459000|-0.459000	0.05422|0.05422	CAC|ACA		0.438	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		9	92	0	0	0	1	0	9	92				
RAX2	84839	broad.mit.edu	37	19	3771688	3771688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3771688G>A	ENST00000555633.1	-	2	393	c.53C>T	c.(52-54)cCg>cTg	p.P18L	RAX2_ENST00000555978.1_Missense_Mutation_p.P18L			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	18					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGCCCGGCCCCAGACC	0.701																																						ENST00000555633.1																			0				large_intestine(1)	1						c.(52-54)cCg>cTg		retina and anterior neural fold homeobox 2							38.0	35.0	36.0					19																	3771688		2200	4298	6498	SO:0001583	missense	84839				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3771688G>A	AY211277	CCDS12112.1	19p13.3	2013-06-06	2007-08-28	2007-08-28				"""Homeoboxes / PRD class"""	18286	protein-coding gene	gene with protein product		610362	"""retina and anterior neural fold homeobox like 1"""	RAXL1			Standard	NM_032753		Approved	MGC15631, ARMD6, CORD11	uc002lys.3	Q96IS3		ENST00000555633.1:c.53C>T	19.37:g.3771688G>A	ENSP00000450456:p.Pro18Leu					RAX2_ENST00000555978.1_Missense_Mutation_p.P18L	p.P18L			Q96IS3	RAX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	2	393	-		Hepatocellular(1079;0.137)	18						Missense_Mutation	SNP	ENST00000555633.1	37	c.53C>T	CCDS12112.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328802	0.60743	.	.	ENSG00000173976	ENST00000555633;ENST00000395106	D	0.91521	-2.86	2.98	2.98	0.34508	Homeodomain-like (1);	.	.	.	.	D	0.83834	0.5340	L	0.47716	1.5	0.23221	N	0.998091	P;P	0.52463	0.804;0.953	B;B	0.37550	0.078;0.253	T	0.73662	-0.3912	9	0.31617	T	0.26	.	8.0233	0.30423	0.0:0.0:0.5863:0.4137	.	18;64	Q96IS3;G3V243	RAX2_HUMAN;.	L	64;18	ENSP00000450456:P64L	ENSP00000378538:P18L	P	-	2	0	RAX2	3722688	0.865000	0.29922	0.181000	0.23098	0.725000	0.41563	2.560000	0.45896	1.228000	0.43614	0.491000	0.48974	CCG		0.701	RAX2-001	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411919.2	NM_032753		4	17	0	0	0	1	0	4	17				
VAV1	7409	broad.mit.edu	37	19	6829843	6829843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829843G>A	ENST00000602142.1	+	14	1394	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	VAV1_ENST00000596764.1_Missense_Mutation_p.G406R|VAV1_ENST00000539284.1_Missense_Mutation_p.G341R|VAV1_ENST00000304076.2_Missense_Mutation_p.G438R|VAV1_ENST00000599806.1_Missense_Mutation_p.G383R	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	438	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAAGCGCAGGGGAGACTCCTA	0.527																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1312-1314)Gga>Aga		vav 1 guanine nucleotide exchange factor							159.0	129.0	139.0					19																	6829843		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6829843G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1312G>A	19.37:g.6829843G>A	ENSP00000472929:p.Gly438Arg					VAV1_ENST00000596764.1_Missense_Mutation_p.G406R|VAV1_ENST00000539284.1_Missense_Mutation_p.G341R|VAV1_ENST00000599806.1_Missense_Mutation_p.G383R|VAV1_ENST00000602142.1_Missense_Mutation_p.G438R	p.G438R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			14	1406	+			438			PH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1312G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190987	0.78789	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.87887	-2.31;-2.31	4.82	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92590	0.7646	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	D	0.90796	0.4690	10	0.22706	T	0.39	.	15.7353	0.77837	0.0:0.0:1.0:0.0	.	341;438;383;438	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	R	438;341	ENSP00000302269:G438R;ENSP00000443242:G341R	ENSP00000302269:G438R	G	+	1	0	VAV1	6780843	1.000000	0.71417	0.986000	0.45419	0.962000	0.63368	6.935000	0.75886	2.385000	0.81259	0.655000	0.94253	GGA		0.527	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			8	92	0	0	0	1	0	8	92				
ZNF703	80139	broad.mit.edu	37	8	37556060	37556060	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37556060C>A	ENST00000331569.4	+	2	1870	c.1641C>A	c.(1639-1641)ccC>ccA	p.P547P		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	547					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GGTACCACCCCTATGGCAAGA	0.677																																						ENST00000331569.4																		FGFR1/ZNF703(2)	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7						c.(1639-1641)ccC>ccA		zinc finger protein 703							19.0	19.0	19.0					8																	37556060		2200	4294	6494	SO:0001819	synonymous_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37556060C>A	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1641C>A	8.37:g.37556060C>A							p.P547P	NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		2	1870	+			547					Q5XG76	Silent	SNP	ENST00000331569.4	37	c.1641C>A	CCDS6094.1																																																																																				0.677	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		3	13	1	0	1	1	1	3	13				
CRB2	286204	broad.mit.edu	37	9	126125293	126125293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125293T>C	ENST00000373631.3	+	2	245	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	CRB2_ENST00000359999.3_Missense_Mutation_p.C82R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	82	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCGCTCTGTGTGTGCCCCA	0.677																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(244-246)Tgt>Cgt		crumbs homolog 2 (Drosophila)							44.0	43.0	43.0					9																	126125293		2203	4299	6502	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126125293T>C	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.244T>C	9.37:g.126125293T>C	ENSP00000362734:p.Cys82Arg					CRB2_ENST00000359999.3_Missense_Mutation_p.C82R	p.C82R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			2	245	+			82			EGF-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.244T>C	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849678	0.71603	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.99304	-5.72;-3.99	4.7	4.7	0.59300	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47093	D	0.000250	D	0.99585	0.9850	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.98;0.998	D	0.98323	1.0529	10	0.87932	D	0	.	9.1791	0.37129	0.1629:0.0:0.0:0.8371	.	82;82	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	R	82	ENSP00000353092:C82R;ENSP00000362734:C82R	ENSP00000353092:C82R	C	+	1	0	CRB2	125165114	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.645000	0.67909	1.984000	0.57885	0.368000	0.22195	TGT		0.677	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		12	31	0	0	0	1	0	12	31				
TUBD1	51174	broad.mit.edu	37	17	57943976	57943976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57943976C>A	ENST00000592426.1	-	6	1069	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	TUBD1_ENST00000325752.3_Missense_Mutation_p.D357Y|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Missense_Mutation_p.D103Y|TUBD1_ENST00000394239.3_Missense_Mutation_p.D357Y|TUBD1_ENST00000340993.6_Missense_Mutation_p.D302Y|TUBD1_ENST00000539018.1_Missense_Mutation_p.D141Y			Q9UJT1	TBD_HUMAN	tubulin, delta 1	357					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TTACCCACATCTGCACTTTGC	0.373																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1069-1071)Gat>Tat		tubulin, delta 1							124.0	113.0	117.0					17																	57943976		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57943976C>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1069G>T	17.37:g.57943976C>A	ENSP00000468518:p.Asp357Tyr					TUBD1_ENST00000394239.3_Missense_Mutation_p.D357Y|TUBD1_ENST00000592426.1_Missense_Mutation_p.D357Y|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Missense_Mutation_p.D103Y|TUBD1_ENST00000539018.1_Missense_Mutation_p.D141Y|TUBD1_ENST00000340993.6_Missense_Mutation_p.D302Y	p.D357Y	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		7	1346	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		357					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.1069G>T	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614987	0.66672	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000539018	T;T;T;T	0.81163	-1.22;-0.91;-1.46;-0.83	5.4	4.43	0.53597	Tubulin/FtsZ, C-terminal (1);	0.417023	0.30101	N	0.010409	D	0.88908	0.6565	M	0.84433	2.695	0.41560	D	0.988622	D;D;D;D;D	0.76494	0.998;0.999;0.994;0.989;0.981	D;D;P;P;P	0.72075	0.926;0.976;0.839;0.824;0.779	D	0.89626	0.3852	10	0.87932	D	0	-8.8809	9.1883	0.37184	0.145:0.7816:0.0:0.0734	.	357;103;302;302;357	E9PCA7;Q9UJT1-3;Q5KU37;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	Y	357;302;103;357;141	ENSP00000320797:D357Y;ENSP00000342399:D302Y;ENSP00000342561:D103Y;ENSP00000377785:D357Y	ENSP00000320797:D357Y	D	-	1	0	TUBD1	55298758	0.998000	0.40836	0.994000	0.49952	0.916000	0.54674	4.140000	0.58031	1.409000	0.46915	0.650000	0.86243	GAT		0.373	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		29	48	1	0	1.80694e-10	1	2.22694e-10	29	48				
PLXNB1	5364	broad.mit.edu	37	3	48459659	48459659	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48459659C>T	ENST00000358536.4	-	15	3432	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1055K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E872K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E872K|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1055					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGGCCTCCCGGGTCACA	0.637																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3163-3165)Gag>Aag		plexin B1							74.0	53.0	60.0					3																	48459659		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48459659C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3163G>A	3.37:g.48459659C>T	ENSP00000351338:p.Glu1055Lys					PLXNB1_ENST00000358459.4_Missense_Mutation_p.E872K|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1055K|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E872K	p.E1055K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	15	3432	-			1055					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3163G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992157	0.35131	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03358	3.96;3.98;3.96;3.98	5.59	5.59	0.84812	.	0.202957	0.42172	D	0.000754	T	0.04003	0.0112	L	0.34521	1.04	0.80722	D	1	P;P	0.47302	0.893;0.575	B;B	0.37198	0.243;0.219	T	0.59757	-0.7394	10	0.23302	T	0.38	.	18.5826	0.91177	0.0:1.0:0.0:0.0	.	1055;872	O43157;O43157-2	PLXB1_HUMAN;.	K	1055;872;1055;872	ENSP00000296440:E1055K;ENSP00000351242:E872K;ENSP00000351338:E1055K;ENSP00000414199:E872K	ENSP00000296440:E1055K	E	-	1	0	PLXNB1	48434663	0.985000	0.35326	0.996000	0.52242	0.977000	0.68977	3.069000	0.50026	2.642000	0.89623	0.561000	0.74099	GAG		0.637	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		11	13	0	0	0	1	0	11	13				
MTCH1	23787	broad.mit.edu	37	6	36945433	36945433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945433C>T	ENST00000373627.5	-	5	750	c.626G>A	c.(625-627)cGc>cAc	p.R209H	MTCH1_ENST00000373616.5_Missense_Mutation_p.R209H|MTCH1_ENST00000538808.1_Missense_Mutation_p.R53H	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	209					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGCCAACATGCGGGACACACA	0.662											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373627.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(625-627)cGc>cAc		mitochondrial carrier 1							32.0	27.0	29.0					6																	36945433		2203	4300	6503	SO:0001583	missense	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36945433C>T	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.626G>A	6.37:g.36945433C>T	ENSP00000362730:p.Arg209His		OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	MTCH1_ENST00000373616.5_Missense_Mutation_p.R209H|MTCH1_ENST00000538808.1_Missense_Mutation_p.R53H	p.R209H	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN			5	750	-			209					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37	c.626G>A		.	.	.	.	.	.	.	.	.	.	C	14.04	2.416082	0.42817	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373550;ENST00000418541;ENST00000460219;ENST00000538808	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.52	5.52	0.82312	Mitochondrial carrier domain (2);	0.077848	0.48286	N	0.000189	T	0.42404	0.1201	N	0.17379	0.485	0.42127	D	0.991458	D;P;B;D	0.89917	1.0;0.637;0.169;0.999	D;B;B;D	0.81914	0.995;0.142;0.049;0.976	T	0.49899	-0.8890	10	0.72032	D	0.01	-8.6547	17.9728	0.89118	0.0:1.0:0.0:0.0	.	53;191;209;209	B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.;.;MTCH1_HUMAN;.	H	209;209;145;145;6;193;53	ENSP00000362718:R209H;ENSP00000362730:R209H;ENSP00000419739:R193H;ENSP00000437660:R53H	ENSP00000338712:R145H	R	-	2	0	MTCH1	37053411	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.652000	0.67959	2.761000	0.94854	0.655000	0.94253	CGC		0.662	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		8	6	0	0	0	1	0	8	6				
ABCA4	24	broad.mit.edu	37	1	94463595	94463595	+	Missense_Mutation	SNP	G	G	T	rs63749058		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94463595G>T	ENST00000370225.3	-	48	6637	c.6551C>A	c.(6550-6552)cCt>cAt	p.P2184H	ABCA4_ENST00000536513.1_Missense_Mutation_p.P454H|ABCA4_ENST00000535881.1_Missense_Mutation_p.P303H	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2184					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGCTCCACAGGGTTCAGGTC	0.562																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6550-6552)cCt>cAt		ATP-binding cassette, sub-family A (ABC1), member 4							122.0	99.0	106.0					1																	94463595		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94463595G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6551C>A	1.37:g.94463595G>T	ENSP00000359245:p.Pro2184His					ABCA4_ENST00000536513.1_Missense_Mutation_p.P454H|ABCA4_ENST00000535881.1_Missense_Mutation_p.P303H	p.P2184H	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	48	6637	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2184					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6551C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725271	0.30593	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.89681	-2.55;-2.55;-2.55	5.39	3.5	0.40072	.	0.172994	0.51477	D	0.000089	D	0.84156	0.5410	M	0.81497	2.545	0.80722	D	1	P	0.47962	0.903	P	0.46076	0.503	D	0.83635	0.0147	10	0.72032	D	0.01	.	4.4372	0.11555	0.1396:0.1247:0.6068:0.1289	.	2184	P78363	ABCA4_HUMAN	H	976;2184;454;303	ENSP00000359245:P2184H;ENSP00000439707:P454H;ENSP00000443203:P303H	ENSP00000359245:P2184H	P	-	2	0	ABCA4	94236183	1.000000	0.71417	0.062000	0.19696	0.922000	0.55478	3.345000	0.52182	0.640000	0.30582	0.561000	0.74099	CCT		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		4	101	1	0	0.00909568	1	0.00947522	4	101				
ME3	10873	broad.mit.edu	37	11	86158194	86158194	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86158194G>T	ENST00000393324.3	-	11	1546	c.1293C>A	c.(1291-1293)tcC>tcA	p.S431S	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Silent_p.S431S|ME3_ENST00000359636.2_Silent_p.S431S	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	431					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GCTCGTGGAAGGAGGCCATGT	0.602																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1291-1293)tcC>tcA		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						83.0	78.0	80.0					11																	86158194		2202	4299	6501	SO:0001819	synonymous_variant	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86158194G>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1293C>A	11.37:g.86158194G>T						RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Silent_p.S431S|ME3_ENST00000359636.2_Silent_p.S431S	p.S431S	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			12	1619	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	431					B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	c.1293C>A	CCDS8277.1																																																																																				0.602	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			28	24	1	0	6.32553e-13	1	7.99037e-13	28	24				
PTK7	5754	broad.mit.edu	37	6	43106885	43106885	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43106885C>T	ENST00000230419.4	+	9	1595	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Silent_p.F458F|PTK7_ENST00000481273.1_Silent_p.F466F|PTK7_ENST00000345201.2_Silent_p.F458F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	458	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACTCACGGTTCGAGGTCTTCA	0.592																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1372-1374)ttC>ttT		protein tyrosine kinase 7							77.0	54.0	62.0					6																	43106885		2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43106885C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1374C>T	6.37:g.43106885C>T						PTK7_ENST00000481273.1_Silent_p.F466F|PTK7_ENST00000352931.2_Silent_p.F458F|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Silent_p.F458F	p.F458F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		9	1595	+			458			Ig-like C2-type 5.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1374C>T	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	8.390	0.839519	0.16891	.	.	ENSG00000112655	ENST00000489707	.	.	.	5.2	0.312	0.15837	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35475	-0.9787	4	.	.	.	.	9.9955	0.41896	0.0:0.381:0.0:0.619	.	.	.	.	L	103	.	.	S	+	2	0	PTK7	43214863	0.889000	0.30405	0.678000	0.29963	0.838000	0.47535	-0.062000	0.11674	-0.264000	0.09365	-0.339000	0.08088	TCG		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			8	10	0	0	0	1	0	8	10				
SLC9A4	389015	broad.mit.edu	37	2	103095459	103095459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103095459C>A	ENST00000295269.4	+	2	875	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	140					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCCATCGTTCTGGAGGGCGG	0.612																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(418-420)Ctg>Atg		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							69.0	64.0	66.0					2																	103095459		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095459C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.418C>A	2.37:g.103095459C>A	ENSP00000295269:p.Leu140Met						p.L140M	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			2	875	+			140					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.418C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.908263	0.72868	.	.	ENSG00000180251	ENST00000295269	T	0.17854	2.25	5.52	2.71	0.32032	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000001	T	0.40372	0.1114	M	0.89658	3.05	0.47476	D	0.999434	D	0.61697	0.99	P	0.59012	0.85	T	0.39663	-0.9603	10	0.59425	D	0.04	.	9.3118	0.37910	0.0:0.7683:0.0:0.2317	.	140	Q6AI14	SL9A4_HUMAN	M	140	ENSP00000295269:L140M	ENSP00000295269:L140M	L	+	1	2	SLC9A4	102461891	0.998000	0.40836	0.988000	0.46212	0.927000	0.56198	2.692000	0.47018	0.671000	0.31185	0.655000	0.94253	CTG		0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		8	46	1	0	0.010729	1	0.0111717	8	46				
MTMR14	64419	broad.mit.edu	37	3	9719032	9719032	+	Silent	SNP	G	G	T	rs538523097		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9719032G>T	ENST00000296003.4	+	8	905	c.783G>T	c.(781-783)cgG>cgT	p.R261R	MTMR14_ENST00000351233.5_Silent_p.R261R|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.R261R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	261					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATAAAGATCGGGATTACATGG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20646	0.0		0.0	False		,,,				2504	0.0					ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(781-783)cgG>cgT		myotubularin related protein 14							142.0	131.0	135.0					3																	9719032		1877	4111	5988	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9719032G>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.783G>T	3.37:g.9719032G>T						MTMR14_ENST00000351233.5_Silent_p.R261R|MTMR14_ENST00000353332.5_Silent_p.R261R|MTMR14_ENST00000420925.1_Intron	p.R261R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			8	905	+	Medulloblastoma(99;0.227)		261					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.783G>T	CCDS43043.1																																																																																				0.443	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		37	67	1	0	4.92203e-23	1	6.50827e-23	37	67				
EHD3	30845	broad.mit.edu	37	2	31467293	31467293	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31467293C>A	ENST00000322054.5	+	2	666	c.381C>A	c.(379-381)gcC>gcA	p.A127A	EHD3_ENST00000541626.1_Silent_p.A127A	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	127	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AACTCAACGCCTTTGGCAACG	0.532																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(379-381)gcC>gcA		EH-domain containing 3							121.0	95.0	104.0					2																	31467293		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31467293C>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.381C>A	2.37:g.31467293C>A						EHD3_ENST00000541626.1_Silent_p.A127A	p.A127A	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			2	666	+	Acute lymphoblastic leukemia(172;0.155)		127					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.381C>A	CCDS1774.1																																																																																				0.532	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		5	44	1	0	2.0095e-06	1	2.31757e-06	5	44				
PREP	5550	broad.mit.edu	37	6	105800935	105800935	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105800935G>T	ENST00000369110.3	-	7	927	c.735C>A	c.(733-735)cgC>cgA	p.R245R		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	245				R -> C (in Ref. 2; BAA04661). {ECO:0000305}.	proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACAAGACATAGCGGCCATCAT	0.353																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(733-735)cgC>cgA		prolyl endopeptidase	Oxytocin(DB00107)						136.0	139.0	138.0					6																	105800935		2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800935G>T		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.735C>A	6.37:g.105800935G>T							p.R245R	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			7	927	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	245	R -> C (in Ref. 2; BAA04661).				Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.735C>A	CCDS5053.1																																																																																				0.353	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			9	116	1	0	3.09899e-07	1	3.63227e-07	9	116				
CALCOCO2	10241	broad.mit.edu	37	17	46925799	46925799	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46925799C>A	ENST00000258947.3	+	4	500	c.399C>A	c.(397-399)atC>atA	p.I133I	CALCOCO2_ENST00000448105.2_Silent_p.I157I|CALCOCO2_ENST00000509507.1_Silent_p.I154I|CALCOCO2_ENST00000416445.2_Silent_p.I133I|CALCOCO2_ENST00000508679.1_Silent_p.I61I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	133					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGGAAGACATCCTGGTTGTTA	0.438																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(397-399)atC>atA		calcium binding and coiled-coil domain 2							179.0	157.0	165.0					17																	46925799		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46925799C>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.399C>A	17.37:g.46925799C>A						CALCOCO2_ENST00000509507.1_Silent_p.I154I|CALCOCO2_ENST00000508679.1_Silent_p.I61I|CALCOCO2_ENST00000416445.2_Silent_p.I133I|CALCOCO2_ENST00000448105.2_Silent_p.I157I	p.I133I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			4	500	+			133					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.399C>A	CCDS11538.1																																																																																				0.438	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		8	109	1	0	3.09899e-07	1	3.63227e-07	8	109				
NBAS	51594	broad.mit.edu	37	2	15359051	15359051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15359051C>T	ENST00000281513.5	-	48	6303	c.6278G>A	c.(6277-6279)cGg>cAg	p.R2093Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R1973Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2093					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAGAAAGGCCGCAGCCACTC	0.557																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6277-6279)cGg>cAg		neuroblastoma amplified sequence							36.0	41.0	39.0					2																	15359051		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15359051C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6278G>A	2.37:g.15359051C>T	ENSP00000281513:p.Arg2093Gln					NBAS_ENST00000441750.1_Missense_Mutation_p.R1973Q	p.R2093Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			48	6303	-			2093					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6278G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.962854|4.962854	0.92791|0.92791	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513	.|T;T	.|0.31510	.|1.49;1.49	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.056518	.|0.64402	.|D	.|0.000002	T|T	0.54902|0.54902	0.1887|0.1887	M|M	0.63843|0.63843	1.955|1.955	0.52099|0.52099	D|D	0.999946|0.999946	.|D;D	.|0.89917	.|1.0;0.998	.|D;P	.|0.74348	.|0.983;0.714	T|T	0.55964|0.55964	-0.8057|-0.8057	5|10	.|0.87932	.|D	.|0	.|.	18.5325|18.5325	0.90997|0.90997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1973;2093	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	S|Q	1141|1973;2093	.|ENSP00000413201:R1973Q;ENSP00000281513:R2093Q	.|ENSP00000281513:R2093Q	G|R	-|-	1|2	0|0	NBAS|NBAS	15276502|15276502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.128000|4.128000	0.57951|0.57951	2.609000|2.609000	0.88269|0.88269	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.557	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		17	20	0	0	0	1	0	17	20				
DNAJC11	55735	broad.mit.edu	37	1	6700036	6700036	+	Silent	SNP	G	G	A	rs369916710		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6700036G>A	ENST00000377577.5	-	11	1302	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	DNAJC11_ENST00000377573.5_Silent_p.T303T|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000542246.1_Silent_p.T355T	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	393						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCCACGGTGGCATAGA	0.512																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1177-1179)acC>acT		DnaJ (Hsp40) homolog, subfamily C, member 11		G		0,4406		0,0,2203	83.0	76.0	78.0		1179	-0.6	1.0	1		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAJC11	NM_018198.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		393/560	6700036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6700036G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1179C>T	1.37:g.6700036G>A						DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000542246.1_Silent_p.T355T|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.T303T|DNAJC11_ENST00000349363.6_Intron	p.T393T	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	11	1302	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	393					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1179C>T	CCDS87.1																																																																																				0.512	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		3	23	0	0	0	1	0	3	23				
MDC1	9656	broad.mit.edu	37	6	30672521	30672521	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30672521C>A	ENST00000376406.3	-	10	5086	c.4439G>T	c.(4438-4440)aGa>aTa	p.R1480I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1216I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1480	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGATCTATCTGTTCT	0.587								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4438-4440)aGa>aTa	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							109.0	121.0	117.0					6																	30672521		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672521C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4439G>T	6.37:g.30672521C>A	ENSP00000365588:p.Arg1480Ile					MDC1_ENST00000376405.2_Missense_Mutation_p.R1216I|MDC1-AS1_ENST00000442150.1_RNA	p.R1480I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5086	-			1480			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4439G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658024	0.47467	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.15834	2.39;2.39	4.31	1.47	0.22746	.	.	.	.	.	T	0.20129	0.0484	M	0.71581	2.175	0.09310	N	1	D;P	0.71674	0.998;0.731	D;B	0.69307	0.963;0.418	T	0.04128	-1.0975	9	0.72032	D	0.01	-2.114	6.628	0.22841	0.0:0.6874:0.0:0.3126	.	1216;1480	Q14676-2;Q14676	.;MDC1_HUMAN	I	1480;1216;1193;1046	ENSP00000365588:R1480I;ENSP00000365587:R1216I	ENSP00000365587:R1216I	R	-	2	0	MDC1	30780500	0.022000	0.18835	0.001000	0.08648	0.009000	0.06853	0.648000	0.24828	0.190000	0.20209	0.449000	0.29647	AGA		0.587	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		12	146	1	0	0.00185496	1	0.00197886	12	146				
GIMAP1	170575	broad.mit.edu	37	7	150417359	150417359	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417359C>T	ENST00000307194.5	+	3	407	c.267C>T	c.(265-267)tcC>tcT	p.S89S		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	89	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTCAGCTCCCAAGTGTCCA	0.652																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(265-267)tcC>tcT		GTPase, IMAP family member 1							49.0	45.0	46.0					7																	150417359		2203	4300	6503	SO:0001819	synonymous_variant	170575							g.chr7:150417359C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.267C>T	7.37:g.150417359C>T							p.S89S	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	407	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.267C>T	CCDS5906.1																																																																																				0.652	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		17	52	0	0	0	1	0	17	52				
DENND5B	160518	broad.mit.edu	37	12	31605026	31605026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31605026G>T	ENST00000389082.5	-	5	1741	c.1477C>A	c.(1477-1479)Cta>Ata	p.L493I	snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.L528I|DENND5B_ENST00000354285.4_Missense_Mutation_p.L515I|DENND5B_ENST00000536562.1_Missense_Mutation_p.L528I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	493					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGTCCCTTAGTTCTGCCTCT	0.458																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1477-1479)Cta>Ata		DENN/MADD domain containing 5B							171.0	169.0	170.0					12																	31605026		1926	4143	6069	SO:0001583	missense	160518					integral to membrane		g.chr12:31605026G>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1477C>A	12.37:g.31605026G>T	ENSP00000373734:p.Leu493Ile					DENND5B_ENST00000306833.6_Missense_Mutation_p.L528I|DENND5B_ENST00000354285.4_Missense_Mutation_p.L515I|DENND5B_ENST00000536562.1_Missense_Mutation_p.L528I	p.L493I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			5	1741	-			493					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1477C>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003611	0.35320	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;3.1	4.67	1.59	0.23543	.	0.098297	0.42420	D	0.000701	T	0.42562	0.1208	L	0.61218	1.895	0.58432	D	0.999995	B;P;B;B	0.41366	0.059;0.747;0.035;0.059	B;P;B;B	0.46419	0.06;0.516;0.017;0.06	T	0.18618	-1.0331	10	0.32370	T	0.25	-18.4498	7.9997	0.30288	0.1565:0.0:0.7039:0.1396	.	415;515;493;528	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	I	493;528;528;515;445	ENSP00000373734:L493I;ENSP00000306482:L528I;ENSP00000444889:L528I;ENSP00000346238:L515I;ENSP00000442938:L445I	ENSP00000306482:L528I	L	-	1	2	DENND5B	31496293	0.982000	0.34865	0.369000	0.25952	0.979000	0.70002	1.689000	0.37700	0.590000	0.29694	0.563000	0.77884	CTA		0.458	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		11	132	1	0	3.27435e-08	1	3.90559e-08	11	132				
NCLN	56926	broad.mit.edu	37	19	3192602	3192602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3192602G>A	ENST00000246117.4	+	2	750	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	NCLN_ENST00000590671.1_Missense_Mutation_p.A33T	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	107					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGGCGGGCGCCGTGGTCAT	0.716																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(319-321)Gcc>Acc		nicalin							15.0	16.0	15.0					19																	3192602		2178	4257	6435	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3192602G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.319G>A	19.37:g.3192602G>A	ENSP00000246117:p.Ala107Thr					NCLN_ENST00000590671.1_Missense_Mutation_p.A33T	p.A107T	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	2	750	+		Hepatocellular(1079;0.137)	107					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.319G>A	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352823	0.82132	.	.	ENSG00000125912	ENST00000246117	T	0.39592	1.07	4.38	4.38	0.52667	.	0.054659	0.64402	D	0.000001	T	0.50222	0.1603	M	0.73962	2.25	0.80722	D	1	D	0.56521	0.976	P	0.46275	0.51	T	0.61618	-0.7026	10	0.72032	D	0.01	-8.7837	15.5394	0.76031	0.0:0.0:1.0:0.0	.	107	Q969V3	NCLN_HUMAN	T	107	ENSP00000246117:A107T	ENSP00000246117:A107T	A	+	1	0	NCLN	3143602	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.253000	0.95501	1.992000	0.58205	0.555000	0.69702	GCC		0.716	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		11	8	0	0	0	1	0	11	8				
PDZD2	23037	broad.mit.edu	37	5	32091031	32091031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32091031C>A	ENST00000438447.1	+	20	7865	c.7477C>A	c.(7477-7479)Ctt>Att	p.L2493I	PDZD2_ENST00000282493.3_Missense_Mutation_p.L2493I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2493		Cleavage; by caspases. {ECO:0000250}.			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						CATGCCTGACCTTGACAAGCT	0.612																																						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.(7477-7479)Ctt>Att		PDZ domain containing 2							60.0	59.0	59.0					5																	32091031		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32091031C>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.7477C>A	5.37:g.32091031C>A	ENSP00000402033:p.Leu2493Ile					PDZD2_ENST00000282493.3_Missense_Mutation_p.L2493I	p.L2493I			O15018	PDZD2_HUMAN			20	7865	+			2493				Cleavage; by caspases (By similarity).	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7477C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421575	0.83559	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.16597	2.33;2.33	5.32	4.46	0.54185	.	0.000000	0.43260	D	0.000593	T	0.38719	0.1051	M	0.71581	2.175	0.52099	D	0.999949	D	0.76494	0.999	D	0.78314	0.991	T	0.13522	-1.0506	10	0.48119	T	0.1	.	11.7972	0.52106	0.0:0.9144:0.0:0.0856	.	2493	O15018	PDZD2_HUMAN	I	2493;2294;2493	ENSP00000402033:L2493I;ENSP00000282493:L2493I	ENSP00000282493:L2493I	L	+	1	0	PDZD2	32126788	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.612000	0.46343	1.251000	0.43983	0.561000	0.74099	CTT		0.612	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			15	56	1	0	0.00244969	1	0.00259885	15	56				
FADS6	283985	broad.mit.edu	37	17	72877209	72877209	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72877209T>C	ENST00000310226.6	-	4	729	c.715A>G	c.(715-717)Aac>Gac	p.N239D		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	245					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGAAGATGTTGACGTGGAGG	0.617																																						ENST00000310226.6																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(715-717)Aac>Gac		fatty acid desaturase 6							28.0	32.0	31.0					17																	72877209		1952	4158	6110	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72877209T>C	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.715A>G	17.37:g.72877209T>C	ENSP00000307821:p.Asn239Asp						p.N239D	NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN			4	729	-	all_lung(278;0.172)|Lung NSC(278;0.207)		245					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.715A>G	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283611	0.80803	.	.	ENSG00000172782	ENST00000310226	T	0.19250	2.16	5.08	3.99	0.46301	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	M	0.72894	2.215	0.44136	D	0.996923	D	0.89917	1.0	D	0.91635	0.999	T	0.15321	-1.0441	10	0.36615	T	0.2	-38.628	11.3792	0.49746	0.1355:0.0:0.0:0.8645	.	245	Q8N9I5	FADS6_HUMAN	D	239	ENSP00000307821:N239D	ENSP00000307821:N239D	N	-	1	0	FADS6	70388804	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.555000	0.82223	0.752000	0.32923	0.533000	0.62120	AAC		0.617	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			4	16	0	0	0	1	0	4	16				
ABCC12	94160	broad.mit.edu	37	16	48141301	48141301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48141301G>A	ENST00000311303.3	-	18	2752	c.2407C>T	c.(2407-2409)Ctc>Ttc	p.L803F	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.L800F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	803	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATCATCAGGAGGAAGAGGAAC	0.582																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2407-2409)Ctc>Ttc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							123.0	120.0	121.0					16																	48141301		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48141301G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2407C>T	16.37:g.48141301G>A	ENSP00000311030:p.Leu803Phe					ABCC12_ENST00000448542.1_Missense_Mutation_p.L800F|ABCC12_ENST00000416054.1_3'UTR	p.L803F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			18	2752	-		all_cancers(37;0.0474)|all_lung(18;0.047)	803			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2407C>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	g	9.121	1.008948	0.19199	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.92647	-3.08;-3.08	5.39	1.21	0.21127	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.559929	0.19018	N	0.124885	T	0.81721	0.4882	N	0.16368	0.405	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.69851	-0.5033	10	0.35671	T	0.21	.	5.3444	0.16000	0.3339:0.2358:0.4303:0.0	.	803	Q96J65	MRP9_HUMAN	F	803;800;721	ENSP00000311030:L803F;ENSP00000401855:L800F	ENSP00000311030:L803F	L	-	1	0	ABCC12	46698802	0.968000	0.33430	1.000000	0.80357	0.812000	0.45895	0.091000	0.15046	0.399000	0.25367	-0.269000	0.10298	CTC		0.582	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		41	73	0	0	0	1	0	41	73				
SATL1	340562	broad.mit.edu	37	X	84349941	84349941	+	Silent	SNP	G	G	A	rs141349825	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84349941G>A	ENST00000395409.3	-	3	1754	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N	SATL1_ENST00000332921.5_Silent_p.N398N|SATL1_ENST00000509231.1_Silent_p.N585N			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	398	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTTGTTGATCGTTTACTTCTG	0.348													G|||	43	0.0113907	0.0	0.0029	3775	,	,		13466	0.0		0.0149	False		,,,				2504	0.0266					ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1753-1755)aaC>aaT		spermidine/spermine N1-acetyl transferase-like 1		G		8,3827		0,8,0,1624,571	113.0	97.0	102.0		1755	-7.2	0.0	X	dbSNP_134	102	171,6557		2,113,54,2313,1818	no	coding-synonymous	SATL1	NM_001012980.2		2,121,54,3937,2389	AA,AG,A,GG,G		2.5416,0.2086,1.6946		585/633	84349941	179,10384	2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84349941G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1194C>T	X.37:g.84349941G>A						SATL1_ENST00000395409.3_Silent_p.N398N|SATL1_ENST00000332921.5_Silent_p.N398N	p.N585N			Q86VE3	SATL1_HUMAN			3	1834	-			398					A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.1755C>T																																																																																					0.348	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		11	18	0	0	0	1	0	11	18				
NUTM2G	441457	broad.mit.edu	37	9	99694511	99694511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99694511C>T	ENST00000372322.3	+	2	545	c.524C>T	c.(523-525)gCt>gTt	p.A175V	NUTM2G_ENST00000354649.3_Missense_Mutation_p.A175V|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	175																	CCAGGGAACGCTGGGCCATGG	0.682																																						ENST00000354649.3																			0											c.(523-525)gCt>gTt		NUT family member 2G							80.0	83.0	82.0					9																	99694511		1958	4122	6080	SO:0001583	missense	441457							g.chr9:99694511C>T		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.524C>T	9.37:g.99694511C>T	ENSP00000361397:p.Ala175Val					NUTM2G_ENST00000372322.3_Missense_Mutation_p.A175V|HIATL2_ENST00000506067.1_Intron	p.A175V	NM_001045477.2	NP_001038942.1					2	1239	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.524C>T	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.339344	0.24339	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.26810	1.71;1.71	1.03	-0.116	0.13555	.	1.669960	0.03214	N	0.176582	T	0.28466	0.0704	M	0.67397	2.05	0.09310	N	1	B	0.33694	0.421	B	0.34536	0.185	T	0.28902	-1.0029	10	0.72032	D	0.01	.	3.9261	0.09263	0.4166:0.5834:0.0:0.0	.	175	Q5VZR2-2	.	V	175;175;175;56	ENSP00000346670:A175V;ENSP00000361397:A175V	ENSP00000346670:A175V	A	+	2	0	FAM22G	98734332	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.103000	0.10940	-0.019000	0.14055	0.479000	0.44913	GCT		0.682	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		6	100	0	0	0	1	0	6	100				
MCM10	55388	broad.mit.edu	37	10	13228229	13228229	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13228229C>A	ENST00000484800.2	+	9	1270	c.1167C>A	c.(1165-1167)acC>acA	p.T389T	MCM10_ENST00000378714.3_Silent_p.T388T|MCM10_ENST00000378694.1_Silent_p.T388T			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	389	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCTGGGAACCTGTAAAGCCA	0.448																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1162-1164)acC>acA		minichromosome maintenance complex component 10							186.0	173.0	178.0					10																	13228229		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13228229C>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1167C>A	10.37:g.13228229C>A						MCM10_ENST00000484800.2_Silent_p.T389T|MCM10_ENST00000378714.3_Silent_p.T388T	p.T388T			Q7L590	MCM10_HUMAN			8	1239	+			389					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.1164C>A	CCDS7096.1																																																																																				0.448	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		11	126	1	0	1.08611e-07	1	1.2824e-07	11	126				
TEP1	7011	broad.mit.edu	37	14	20845812	20845812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845812C>T	ENST00000262715.5	-	40	5862	c.5822G>A	c.(5821-5823)cGg>cAg	p.R1941Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1833Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R279Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1941					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACAGCCACCCGATCACCATC	0.552																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5821-5823)cGg>cAg		telomerase-associated protein 1							105.0	115.0	112.0					14																	20845812		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845812C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5822G>A	14.37:g.20845812C>T	ENSP00000262715:p.Arg1941Gln					TEP1_ENST00000556935.1_Missense_Mutation_p.R1833Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R279Q	p.R1941Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	40	5862	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1941					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5822G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	8.090	0.774375	0.16051	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.70631	0.83;-0.5;1.27	5.33	-10.7	0.00240	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	1.652660	0.02862	N	0.130470	T	0.52289	0.1725	N	0.16743	0.435	0.09310	N	1	B;B;B;B	0.17852	0.0;0.0;0.024;0.0	B;B;B;B	0.10450	0.0;0.001;0.005;0.0	T	0.44159	-0.9346	10	0.28530	T	0.3	0.0078	15.435	0.75140	0.0762:0.1658:0.0:0.758	.	279;1833;1284;1941	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	1941;1941;1833;279	ENSP00000262715:R1941Q;ENSP00000452574:R1833Q;ENSP00000438849:R279Q	ENSP00000262715:R1941Q	R	-	2	0	TEP1	19915652	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-1.769000	0.01792	-2.662000	0.00418	-1.423000	0.01107	CGG		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		47	71	0	0	0	1	0	47	71				
MARS	4141	broad.mit.edu	37	12	57891945	57891945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891945C>A	ENST00000262027.5	+	8	910	c.776C>A	c.(775-777)cCt>cAt	p.P259H	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.P25H	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	259					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ACTAGGTTGCCTGTGGCTGGA	0.517																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(775-777)cCt>cAt		methionyl-tRNA synthetase	L-Methionine(DB00134)						156.0	118.0	131.0					12																	57891945		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57891945C>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.776C>A	12.37:g.57891945C>A	ENSP00000262027:p.Pro259His					MARS_ENST00000315473.5_Missense_Mutation_p.P25H|MARS_ENST00000447721.2_3'UTR	p.P259H	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		8	910	+			259					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.776C>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175163	0.78564	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.56941	0.94;0.43	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.72054	-0.4406	10	0.87932	D	0	-9.4727	14.9271	0.70887	0.0:1.0:0.0:0.0	.	25;132;259	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	H	259;25	ENSP00000262027:P259H;ENSP00000314653:P25H	ENSP00000262027:P259H	P	+	2	0	MARS	56178212	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	6.670000	0.74467	2.325000	0.78763	0.561000	0.74099	CCT		0.517	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		27	37	1	0	1.16021e-09	1	1.41486e-09	27	37				
DHCR7	1717	broad.mit.edu	37	11	71152283	71152283	+	Missense_Mutation	SNP	C	C	T	rs542744675		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71152283C>T	ENST00000355527.3	-	6	892	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	DHCR7_ENST00000407721.2_Missense_Mutation_p.A206T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	206					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.A206T(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGTCTCTGGCGCTGGTGGGG	0.562									Smith-Lemli-Opitz syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		20170	0.0		0.0	False		,,,				2504	0.001					ENST00000355527.3																			2	Substitution - Missense(2)	p.A206T(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(616-618)Gcc>Acc		7-dehydrocholesterol reductase	NADH(DB00157)						99.0	84.0	89.0					11																	71152283		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152283C>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.616G>A	11.37:g.71152283C>T	ENSP00000347717:p.Ala206Thr					DHCR7_ENST00000407721.2_Missense_Mutation_p.A206T	p.A206T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			6	892	-			206					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.616G>A	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978847	0.34942	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316	D;D;D	0.97941	-4.62;-4.62;-4.62	4.14	0.93	0.19454	.	0.311466	0.34906	N	0.003594	D	0.94863	0.8340	L	0.35854	1.095	0.21290	N	0.99974	D	0.59357	0.985	P	0.51615	0.675	D	0.89198	0.3555	10	0.21014	T	0.42	-29.5631	4.7114	0.12873	0.1723:0.6254:0.0:0.2023	.	206	Q9UBM7	DHCR7_HUMAN	T	206;206;218;174	ENSP00000384739:A206T;ENSP00000347717:A206T;ENSP00000435047:A174T	ENSP00000347717:A206T	A	-	1	0	DHCR7	70829931	0.031000	0.19500	0.009000	0.14445	0.704000	0.40688	0.262000	0.18460	0.351000	0.24027	-0.643000	0.03959	GCC		0.562	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		16	32	0	0	0	1	0	16	32				
UGT2B15	7366	broad.mit.edu	37	4	69535723	69535723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69535723T>C	ENST00000338206.5	-	1	623	c.614A>G	c.(613-615)cAa>cGa	p.Q205R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	205					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GAAAATCATTTGATCACTTAA	0.343																																						ENST00000338206.5																			0											c.(613-615)cAa>cGa		UDP glucuronosyltransferase 2 family, polypeptide B15							116.0	120.0	119.0					4																	69535723		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535723T>C	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.614A>G	4.37:g.69535723T>C	ENSP00000341045:p.Gln205Arg						p.Q205R	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	623	-			205					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.614A>G	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	t	0.101	-1.151506	0.01700	.	.	ENSG00000196620	ENST00000338206	T	0.59772	0.24	2.79	-1.56	0.08532	.	0.398782	0.21586	U	0.072179	T	0.30324	0.0761	N	0.21583	0.68	0.20403	N	0.999902	B	0.06786	0.001	B	0.13407	0.009	T	0.13953	-1.0490	10	0.10636	T	0.68	.	2.7241	0.05209	0.1981:0.2721:0.0:0.5298	.	205	P54855	UDB15_HUMAN	R	205	ENSP00000341045:Q205R	ENSP00000341045:Q205R	Q	-	2	0	UGT2B15	69218318	0.000000	0.05858	0.017000	0.16124	0.541000	0.35023	0.095000	0.15127	-0.445000	0.07159	0.363000	0.22086	CAA		0.343	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		33	127	0	0	0	1	0	33	127				
EDNRB	1910	broad.mit.edu	37	13	78492476	78492476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78492476G>A	ENST00000334286.5	-	1	469	c.233C>T	c.(232-234)gCa>gTa	p.A78V	EDNRB_ENST00000377211.4_Missense_Mutation_p.A168V|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.A78V|EDNRB_ENST00000475537.1_5'UTR	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	78					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CGGAGATCCTGCCGTCCTGTC	0.582																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(502-504)gCa>gTa		endothelin receptor type B	Bosentan(DB00559)						109.0	107.0	108.0					13																	78492476		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492476G>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.233C>T	13.37:g.78492476G>A	ENSP00000335311:p.Ala78Val					EDNRB_ENST00000446573.1_Missense_Mutation_p.A78V|EDNRB_ENST00000334286.5_Missense_Mutation_p.A78V|EDNRB_ENST00000475537.1_5'UTR	p.A168V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	2	655	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	78					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.503C>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000955	0.35320	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.72394	-0.65;-0.48;-0.6	4.33	-2.98	0.05513	.	1.417930	0.05082	N	0.483739	T	0.54565	0.1866	L	0.33485	1.01	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.0	B;B;B	0.10450	0.004;0.005;0.001	T	0.25328	-1.0135	10	0.28530	T	0.3	0.5147	4.371	0.11247	0.0717:0.3458:0.249:0.3335	.	78;168;78	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	V	168;78;78	ENSP00000366416:A168V;ENSP00000403401:A78V;ENSP00000335311:A78V	ENSP00000335311:A78V	A	-	2	0	EDNRB	77390477	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.056000	0.11787	-0.764000	0.04651	-1.273000	0.01405	GCA		0.582	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			23	21	0	0	0	1	0	23	21				
RBM28	55131	broad.mit.edu	37	7	127965879	127965879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127965879C>A	ENST00000223073.2	-	11	1309	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.E258*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	399	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACCTCATTCTCTGGAGAAGCA	0.413																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1195-1197)Gag>Tag		RNA binding motif protein 28							48.0	45.0	46.0					7																	127965879		2203	4300	6503	SO:0001587	stop_gained	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127965879C>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1195G>T	7.37:g.127965879C>A	ENSP00000223073:p.Glu399*					RBM28_ENST00000415472.2_Nonsense_Mutation_p.E258*	p.E399*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			11	1309	-			399			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Nonsense_Mutation	SNP	ENST00000223073.2	37	c.1195G>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	38	7.148486	0.98096	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	6.17	6.17	0.99709	.	0.104145	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-27.3208	13.8943	0.63761	0.0:0.8478:0.1522:0.0	.	.	.	.	X	399;258	.	ENSP00000223073:E399X	E	-	1	0	RBM28	127753115	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	3.484000	0.53201	2.941000	0.99782	0.655000	0.94253	GAG		0.413	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		9	38	1	0	0.00621372	1	0.00652201	9	38				
TUBB	203068	broad.mit.edu	37	6	30691217	30691217	+	Silent	SNP	C	C	T	rs147158826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30691217C>T	ENST00000327892.8	+	4	684	c.378C>T	c.(376-378)agC>agT	p.S126S	TUBB_ENST00000396389.1_Silent_p.S108S|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.S54S|TUBB_ENST00000330914.3_Silent_p.S54S|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	126					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGCAGAGAGCTGTGACTGCC	0.592																																						ENST00000396389.1																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(322-324)agC>agT		tubulin, beta class I	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	C		0,4406		0,0,2203	52.0	50.0	51.0		378	4.2	1.0	6	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBB	NM_178014.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		126/445	30691217	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30691217C>T	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.378C>T	6.37:g.30691217C>T						TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.S54S|TUBB_ENST00000396384.1_Silent_p.S54S|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000327892.8_Silent_p.S126S	p.S108S			P07437	TBB5_HUMAN			4	917	+			126					P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	c.324C>T	CCDS4687.1																																																																																				0.592	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		16	26	0	0	0	1	0	16	26				
PHLPP1	23239	broad.mit.edu	37	18	60645923	60645923	+	Silent	SNP	C	C	T	rs370470205		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60645923C>T	ENST00000262719.5	+	17	4647	c.4413C>T	c.(4411-4413)agC>agT	p.S1471S	PHLPP1_ENST00000400316.4_Silent_p.S959S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1471					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CCTCCAGCAGCGGCATGGCTT	0.632																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2875-2877)agC>agT		PH domain and leucine rich repeat protein phosphatase 1		C		0,4218		0,0,2109	35.0	36.0	36.0		4413	1.4	1.0	18		36	1,8465		0,1,4232	no	coding-synonymous	PHLPP1	NM_194449.2		0,1,6341	TT,TC,CC		0.0118,0.0,0.0079		1471/1718	60645923	1,12683	2109	4233	6342	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645923C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4413C>T	18.37:g.60645923C>T						PHLPP1_ENST00000262719.5_Silent_p.S1471S	p.S959S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4658	+			1471					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.2877C>T	CCDS45881.2																																																																																				0.632	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		9	17	0	0	0	1	0	9	17				
TFG	10342	broad.mit.edu	37	3	100432641	100432641	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100432641C>T	ENST00000240851.4	+	2	452	c.112C>T	c.(112-114)Cta>Tta	p.L38L	TFG_ENST00000418917.2_Silent_p.L38L|TFG_ENST00000476228.1_Silent_p.L38L|TFG_ENST00000490574.1_Silent_p.L38L	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	38					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGAATTAGTGCTAATGATGCA	0.328			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(112-114)Cta>Tta		TRK-fused gene							87.0	88.0	88.0					3																	100432641		2203	4300	6503	SO:0001819	synonymous_variant	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100432641C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.112C>T	3.37:g.100432641C>T						TFG_ENST00000418917.2_Silent_p.L38L|TFG_ENST00000476228.1_Silent_p.L38L|TFG_ENST00000490574.1_Silent_p.L38L	p.L38L	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			2	452	+			38					D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	c.112C>T	CCDS2939.1																																																																																				0.328	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		4	72	0	0	0	1	0	4	72				
NRK	203447	broad.mit.edu	37	X	105193586	105193586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105193586C>A	ENST00000243300.9	+	27	4676	c.4373C>A	c.(4372-4374)cCa>cAa	p.P1458Q	NRK_ENST00000428173.2_Missense_Mutation_p.P1459Q|NRK_ENST00000540278.1_Intron	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1458	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCATTATACCACAGAATATC	0.378										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4375-4377)cCa>cAa		Nik related kinase							94.0	85.0	88.0					X																	105193586		1848	4076	5924	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105193586C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4373C>A	X.37:g.105193586C>A	ENSP00000434830:p.Pro1458Gln	HNSCC(51;0.14)				NRK_ENST00000540278.1_Intron|NRK_ENST00000243300.9_Missense_Mutation_p.P1458Q	p.P1459Q			Q7Z2Y5	NRK_HUMAN			27	4679	+			1458			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4376C>A		.	.	.	.	.	.	.	.	.	.	C	13.39	2.222530	0.39300	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.10099	2.91;2.91	5.59	3.84	0.44239	Citron-like (2);	0.182572	0.26820	N	0.022322	T	0.19287	0.0463	L	0.49571	1.57	0.80722	D	1	P	0.44380	0.834	P	0.53518	0.728	T	0.00360	-1.1790	10	0.87932	D	0	.	9.259	0.37601	0.0:0.8332:0.0:0.1668	.	1458	Q7Z2Y5	NRK_HUMAN	Q	1458;1459	ENSP00000434830:P1458Q;ENSP00000438378:P1459Q	ENSP00000434830:P1458Q	P	+	2	0	NRK	105080242	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.797000	0.38804	0.533000	0.28675	0.600000	0.82982	CCA		0.378	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		20	43	1	0	1.01871e-10	1	1.25892e-10	20	43				
RPS18	6222	broad.mit.edu	37	6	33244215	33244215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33244215G>A	ENST00000439602.2	+	6	541	c.431G>A	c.(430-432)cGc>cAc	p.R144H	B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000474973.1_Missense_Mutation_p.R74H|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	144					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CGCCGTGGCCGCACCGTGGGT	0.478																																						ENST00000439602.2																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						c.(430-432)cGc>cAc		ribosomal protein S18							44.0	45.0	45.0					6																	33244215		2203	4297	6500	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33244215G>A	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.431G>A	6.37:g.33244215G>A	ENSP00000393241:p.Arg144His					RPS18_ENST00000474973.1_Missense_Mutation_p.R74H|RPS18_ENST00000476222.1_3'UTR	p.R144H			P62269	RS18_HUMAN			6	541	+			144					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.431G>A	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860654	0.71834	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.48	4.48	0.54585	Ribosomal protein S13-like, H2TH (1);	0.227344	0.36303	N	0.002667	T	0.50446	0.1616	M	0.84219	2.685	0.58432	D	0.999999	P	0.45672	0.864	B	0.41723	0.365	T	0.59658	-0.7413	9	0.45353	T	0.12	.	12.5943	0.56459	0.0:0.0:1.0:0.0	.	144	P62269	RS18_HUMAN	H	144;74	.	ENSP00000393241:R144H	R	+	2	0	RPS18	33352193	1.000000	0.71417	0.669000	0.29828	0.992000	0.81027	8.210000	0.89753	2.348000	0.79779	0.472000	0.43445	CGC		0.478	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2			6	23	0	0	0	1	0	6	23				
NOTUM	147111	broad.mit.edu	37	17	79916837	79916837	+	Silent	SNP	G	G	A	rs201455779	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79916837G>A	ENST00000409678.3	-	4	890	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	169						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAGTAGGGGTTCTCCTCCG	0.632													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.001					ENST00000409678.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(505-507)aaC>aaT		notum pectinacetylesterase homolog (Drosophila)							106.0	87.0	93.0					17																	79916837		2203	4300	6503	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79916837G>A	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.507C>T	17.37:g.79916837G>A							p.N169N	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	890	-	all_neural(118;0.0878)|Ovarian(332;0.12)		169					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.507C>T	CCDS32771.2																																																																																				0.632	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		20	30	0	0	0	1	0	20	30				
SRRM1	10250	broad.mit.edu	37	1	24978975	24978975	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24978975C>A	ENST00000323848.9	+	7	1091	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SRRM1_ENST00000374389.4_Missense_Mutation_p.P259H|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P259H|SRRM1_ENST00000537199.1_Missense_Mutation_p.P128H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	259	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTAAAGAACCTTCTCCGGAA	0.448																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(775-777)cCt>cAt		serine/arginine repetitive matrix 1							27.0	31.0	30.0					1																	24978975		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24978975C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.776C>A	1.37:g.24978975C>A	ENSP00000326261:p.Pro259His					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P259H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P259H|SRRM1_ENST00000537199.1_Missense_Mutation_p.P128H	p.P259H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	7	1091	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	259			Arg-rich.|Pro-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.776C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185711	0.57909	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.46451	0.95;0.92;0.87;0.9	6.05	6.05	0.98169	.	0.198191	0.36134	N	0.002772	T	0.29458	0.0734	N	0.19112	0.55	0.43448	D	0.995635	P;P	0.49447	0.924;0.875	B;B	0.43950	0.437;0.253	T	0.02371	-1.1169	10	0.26408	T	0.33	-3.2535	10.0041	0.41946	0.0:0.788:0.1397:0.0723	.	259;259	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	259;259;259;128	ENSP00000326261:P259H;ENSP00000391430:P259H;ENSP00000363510:P259H;ENSP00000441776:P128H	ENSP00000326261:P259H	P	+	2	0	SRRM1	24851562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.505000	0.45424	2.878000	0.98634	0.650000	0.86243	CCT		0.448	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		4	23	1	0	2.56e-06	1	2.9446e-06	4	23				
ZNF107	51427	broad.mit.edu	37	7	64168631	64168631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64168631C>T	ENST00000395391.1	+	4	3324	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	ZNF107_ENST00000423627.1_Missense_Mutation_p.T650I|ZNF107_ENST00000344930.3_Missense_Mutation_p.T650I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	650					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGCTCCTCAACCCTTAATAGA	0.373																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1948-1950)aCc>aTc		zinc finger protein 107							32.0	36.0	35.0					7																	64168631		2196	4297	6493	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168631C>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1949C>T	7.37:g.64168631C>T	ENSP00000378789:p.Thr650Ile					ZNF107_ENST00000344930.3_Missense_Mutation_p.T650I|ZNF107_ENST00000423627.1_Missense_Mutation_p.T650I	p.T650I			Q9UII5	ZN107_HUMAN			4	3324	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	650						Missense_Mutation	SNP	ENST00000395391.1	37	c.1949C>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	13.36	2.213079	0.39102	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.07567	3.18;3.18;3.18	1.27	-0.269	0.12930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04227	0.0117	N	0.13043	0.29	0.09310	N	1	B	0.32604	0.377	B	0.35550	0.205	T	0.43893	-0.9363	8	.	.	.	.	2.8308	0.05499	0.2992:0.4027:0.2981:0.0	.	650	Q9UII5	ZN107_HUMAN	I	650	ENSP00000343443:T650I;ENSP00000400037:T650I;ENSP00000378789:T650I	.	T	+	2	0	ZNF107	63806066	0.000000	0.05858	0.023000	0.16930	0.875000	0.50365	-3.935000	0.00331	0.635000	0.30488	0.313000	0.20887	ACC		0.373	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		4	43	0	0	0	1	0	4	43				
TTC30B	150737	broad.mit.edu	37	2	178416646	178416646	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178416646C>A	ENST00000408939.3	-	1	1096	c.846G>T	c.(844-846)gaG>gaT	p.E282D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	282					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCAACTCTTCCTCTGCCCTGG	0.498																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(844-846)gaG>gaT		tetratricopeptide repeat domain 30B							145.0	150.0	148.0					2																	178416646		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416646C>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.846G>T	2.37:g.178416646C>A	ENSP00000386181:p.Glu282Asp						p.E282D	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1096	-			282					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.846G>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710530	0.30322	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.24350	1.86	4.65	2.85	0.33270	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.81942	2.565	0.80722	D	1	P	0.35959	0.53	B	0.33339	0.162	T	0.06303	-1.0834	10	0.49607	T	0.09	.	8.3793	0.32461	0.0:0.759:0.0:0.241	.	282	Q8N4P2	TT30B_HUMAN	D	235;282	ENSP00000386181:E282D	ENSP00000386181:E282D	E	-	3	2	TTC30B	178124892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.874000	0.28065	0.691000	0.31592	0.655000	0.94253	GAG		0.498	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		17	152	1	0	9.16793e-09	1	1.10245e-08	17	152				
ZNF335	63925	broad.mit.edu	37	20	44588001	44588001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44588001G>A	ENST00000322927.2	-	15	2192	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R543W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	698					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGTCGGCACCGTACGTGCAGG	0.632																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2092-2094)Cgg>Tgg		zinc finger protein 335							55.0	44.0	48.0					20																	44588001		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44588001G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2092C>T	20.37:g.44588001G>A	ENSP00000325326:p.Arg698Trp					ZNF335_ENST00000426788.1_Missense_Mutation_p.R543W	p.R698W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			15	2192	-		Myeloproliferative disorder(115;0.0122)	698					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2092C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251600	0.80135	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.02103	4.45;4.45	5.02	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.139602	0.50627	D	0.000117	T	0.11922	0.0290	M	0.80422	2.495	0.34705	D	0.727174	D;D	0.89917	1.0;1.0	D;P	0.66084	0.941;0.874	T	0.13683	-1.0500	10	0.87932	D	0	-30.2786	14.2231	0.65841	0.0:0.0:0.8504:0.1496	.	543;698	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	W	698;475;543	ENSP00000325326:R698W;ENSP00000397098:R543W	ENSP00000243961:R475W	R	-	1	2	ZNF335	44021408	1.000000	0.71417	0.302000	0.25058	0.978000	0.69477	6.004000	0.70709	1.315000	0.45114	0.561000	0.74099	CGG		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		14	29	0	0	0	1	0	14	29				
EPPK1	83481	broad.mit.edu	37	8	144945427	144945427	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144945427C>A	ENST00000525985.1	-	2	2066	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D				P58107	EPIPL_HUMAN	epiplakin 1	665						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGTGCCTCCTCAACGGAGT	0.627																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1993-1995)gaG>gaT		epiplakin 1							45.0	46.0	46.0					8																	144945427		2166	4265	6431	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945427C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1995G>T	8.37:g.144945427C>A	ENSP00000436337:p.Glu665Asp						p.E665D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2066	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		665					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.1995G>T		.	.	.	.	.	.	.	.	.	.	C	4.086	0.013951	0.07959	.	.	ENSG00000227184	ENST00000525985	T	0.74002	-0.8	5.13	-1.16	0.09678	.	.	.	.	.	T	0.51500	0.1678	N	0.26130	0.795	0.20821	N	0.999849	B	0.10296	0.003	B	0.19148	0.024	T	0.28870	-1.0030	9	0.16896	T	0.51	.	0.4825	0.00550	0.258:0.3054:0.1262:0.3104	.	665	E9PPU0	.	D	665	ENSP00000436337:E665D	ENSP00000436337:E665D	E	-	3	2	EPPK1	145017415	0.001000	0.12720	0.970000	0.41538	0.094000	0.18550	-2.164000	0.01275	-0.157000	0.11059	0.655000	0.94253	GAG		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	19	1	0	0.150653	1	0.152692	4	19				
ESPL1	9700	broad.mit.edu	37	12	53685848	53685848	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53685848A>G	ENST00000257934.4	+	27	5863	c.5772A>G	c.(5770-5772)ctA>ctG	p.L1924L	ESPL1_ENST00000552462.1_Silent_p.L1924L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1924					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCGCTTCCTACTCAGCTACT	0.572																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5770-5772)ctA>ctG		extra spindle pole bodies homolog 1 (S. cerevisiae)							74.0	71.0	72.0					12																	53685848		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53685848A>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5772A>G	12.37:g.53685848A>G						ESPL1_ENST00000552462.1_Silent_p.L1924L	p.L1924L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			27	5863	+			1924						Silent	SNP	ENST00000257934.4	37	c.5772A>G	CCDS8852.1																																																																																				0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		11	59	0	0	0	1	0	11	59				
OR10J3	441911	broad.mit.edu	37	1	159284307	159284307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284307G>A	ENST00000332217.5	-	1	142	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCGAATAATGGTCATGATAAT	0.478																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(142-144)aCc>aTc		olfactory receptor, family 10, subfamily J, member 3							207.0	209.0	208.0					1																	159284307		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284307G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.143C>T	1.37:g.159284307G>A	ENSP00000331789:p.Thr48Ile						p.T48I	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	142	-	all_hematologic(112;0.0429)		48						Missense_Mutation	SNP	ENST00000332217.5	37	c.143C>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	G	1.453	-0.564565	0.03939	.	.	ENSG00000196266	ENST00000332217	T	0.01902	4.57	5.4	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.271880	0.19251	U	0.118938	T	0.00496	0.0016	L	0.31157	0.91	0.09310	N	1	B	0.19706	0.038	B	0.17979	0.02	T	0.47394	-0.9121	10	0.06236	T	0.91	.	5.6654	0.17693	0.1685:0.1615:0.6699:0.0	.	48	Q5JRS4	O10J3_HUMAN	I	48	ENSP00000331789:T48I	ENSP00000331789:T48I	T	-	2	0	OR10J3	157550931	0.000000	0.05858	0.032000	0.17829	0.021000	0.10359	0.465000	0.22004	0.817000	0.34445	0.561000	0.74099	ACC		0.478	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			9	170	0	0	0	1	0	9	170				
RPS12	6206	broad.mit.edu	37	6	133138166	133138166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133138166G>A	ENST00000230050.3	+	5	512	c.302G>A	c.(301-303)cGt>cAt	p.R101H	SNORD100_ENST00000408573.1_RNA|SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GGGAAACCCCGTAAAGTGGTT	0.373																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(301-303)cGt>cAt		ribosomal protein S12							59.0	57.0	58.0					6																	133138166		2203	4300	6503	SO:0001583	missense	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138166G>A	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.302G>A	6.37:g.133138166G>A	ENSP00000230050:p.Arg101His						p.R101H	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	512	+	Breast(56;0.214)		101					Q76M58	Missense_Mutation	SNP	ENST00000230050.3	37	c.302G>A	CCDS5164.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314619	0.60524	.	.	ENSG00000112306	ENST00000230050	T	0.59364	0.27	5.4	3.63	0.41609	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.326684	0.37136	N	0.002228	T	0.50360	0.1611	M	0.91972	3.26	0.80722	D	1	B	0.20671	0.047	B	0.14578	0.011	T	0.57039	-0.7879	10	0.56958	D	0.05	-2.0112	11.7042	0.51587	0.1426:0.0:0.8574:0.0	.	101	P25398	RS12_HUMAN	H	101	ENSP00000230050:R101H	ENSP00000230050:R101H	R	+	2	0	RPS12	133179859	1.000000	0.71417	0.818000	0.32626	0.971000	0.66376	7.984000	0.88150	0.666000	0.31087	-0.140000	0.14226	CGT		0.373	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		24	38	0	0	0	1	0	24	38				
GYG2	8908	broad.mit.edu	37	X	2761277	2761277	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2761277C>T	ENST00000381163.3	+	4	406	c.124C>T	c.(124-126)Cta>Tta	p.L42L	GYG2_ENST00000338623.5_Silent_p.L42L|GYG2_ENST00000542787.1_Silent_p.L42L|GYG2_ENST00000381161.1_Intron|GYG2_ENST00000398806.3_Silent_p.L11L	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	42					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTGTCACACTAGCCACCAA	0.552																																						ENST00000381163.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(124-126)Cta>Tta		glycogenin 2							109.0	79.0	89.0					X																	2761277		2203	4298	6501	SO:0001819	synonymous_variant	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2761277C>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.124C>T	X.37:g.2761277C>T						GYG2_ENST00000542787.1_Silent_p.L42L|GYG2_ENST00000338623.5_Silent_p.L42L|GYG2_ENST00000398806.3_Silent_p.L11L|GYG2_ENST00000381161.1_Intron	p.L42L	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN			4	406	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	42					B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	ENST00000381163.3	37	c.124C>T	CCDS14121.1																																																																																				0.552	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		15	23	0	0	0	1	0	15	23				
HIVEP1	3096	broad.mit.edu	37	6	12122570	12122570	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122570T>C	ENST00000379388.2	+	4	2874	c.2542T>C	c.(2542-2544)Tca>Cca	p.S848P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	848					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACAGGTTATTCAGCAGTACC	0.398																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2542-2544)Tca>Cca		human immunodeficiency virus type I enhancer binding protein 1							138.0	129.0	132.0					6																	12122570		1906	4120	6026	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122570T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2542T>C	6.37:g.12122570T>C	ENSP00000368698:p.Ser848Pro						p.S848P	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	2874	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	848					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2542T>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892606	0.72524	.	.	ENSG00000095951	ENST00000379388	T	0.46819	0.86	6.02	6.02	0.97574	.	0.000000	0.30492	N	0.009501	T	0.65196	0.2668	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68383	-0.5423	9	.	.	.	-21.434	16.5446	0.84426	0.0:0.0:0.0:1.0	.	848	P15822	ZEP1_HUMAN	P	848	ENSP00000368698:S848P	.	S	+	1	0	HIVEP1	12230556	1.000000	0.71417	0.922000	0.36590	0.957000	0.61999	5.036000	0.64164	2.311000	0.77944	0.533000	0.62120	TCA		0.398	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		10	132	0	0	0	1	0	10	132				
ZNF318	24149	broad.mit.edu	37	6	43325153	43325153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325153C>T	ENST00000361428.2	-	3	976	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R300Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	300					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTACGCTGTCGATAGTTGCG	0.517																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(898-900)cGa>cAa		zinc finger protein 318							141.0	125.0	131.0					6																	43325153		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325153C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.899G>A	6.37:g.43325153C>T	ENSP00000354964:p.Arg300Gln					ZNF318_ENST00000318149.3_Missense_Mutation_p.R300Q	p.R300Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		3	976	-			300					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.899G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942784	0.92526	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03635	3.86;3.86	5.62	5.62	0.85841	.	0.072446	0.56097	D	0.000039	T	0.05914	0.0154	L	0.27053	0.805	0.45883	D	0.998734	D	0.89917	1.0	D	0.83275	0.996	T	0.57808	-0.7747	10	0.30078	T	0.28	-8.1245	17.8421	0.88718	0.0:1.0:0.0:0.0	.	300	Q5VUA4	ZN318_HUMAN	Q	300	ENSP00000323032:R300Q;ENSP00000354964:R300Q	ENSP00000323032:R300Q	R	-	2	0	ZNF318	43433131	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.647000	0.54403	2.653000	0.90120	0.555000	0.69702	CGA		0.517	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		23	37	0	0	0	1	0	23	37				
DMKN	93099	broad.mit.edu	37	19	35991443	35991443	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35991443C>A	ENST00000339686.3	-	12	1455	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000419602.1_Missense_Mutation_p.D416Y|DMKN_ENST00000429837.1_Missense_Mutation_p.D386Y|DMKN_ENST00000436012.1_Missense_Mutation_p.D123Y|DMKN_ENST00000467637.1_Missense_Mutation_p.D152Y|DMKN_ENST00000443640.1_Missense_Mutation_p.D190Y|DMKN_ENST00000472252.2_Missense_Mutation_p.D74Y|DMKN_ENST00000408915.2_Missense_Mutation_p.D41Y|DMKN_ENST00000480502.1_Missense_Mutation_p.D121Y|DMKN_ENST00000492341.2_Missense_Mutation_p.D74Y|DMKN_ENST00000602781.1_Missense_Mutation_p.D140Y|DMKN_ENST00000402589.2_Missense_Mutation_p.D140Y|DMKN_ENST00000414866.2_Missense_Mutation_p.D140Y	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	427			D -> A (in dbSNP:rs909072). {ECO:0000269|PubMed:15234001, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16374476, ECO:0000269|PubMed:17380110}.			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTGATCGTCTCTGCCTGCA	0.597																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(1279-1281)Gac>Tac		dermokine							83.0	53.0	63.0					19																	35991443		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:35991443C>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1279G>T	19.37:g.35991443C>A	ENSP00000342012:p.Asp427Tyr					DMKN_ENST00000414866.2_Missense_Mutation_p.D140Y|DMKN_ENST00000480502.1_Missense_Mutation_p.D121Y|DMKN_ENST00000408915.2_Missense_Mutation_p.D41Y|DMKN_ENST00000472252.2_Missense_Mutation_p.D74Y|DMKN_ENST00000429837.1_Missense_Mutation_p.D386Y|DMKN_ENST00000402589.2_Missense_Mutation_p.D140Y|DMKN_ENST00000467637.1_Missense_Mutation_p.D152Y|DMKN_ENST00000419602.1_Missense_Mutation_p.D416Y|DMKN_ENST00000492341.2_Missense_Mutation_p.D74Y|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000602781.1_Missense_Mutation_p.D140Y|DMKN_ENST00000443640.1_Missense_Mutation_p.D190Y|DMKN_ENST00000436012.1_Missense_Mutation_p.D123Y	p.D427Y	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1455	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		427		D -> A (in dbSNP:rs909072).			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.1279G>T	CCDS12463.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.59|11.59|11.59	1.684795|1.684795|1.684795	0.29872|0.29872|0.29872	.|.|.	.|.|.	ENSG00000161249|ENSG00000161249|ENSG00000161249	ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000443857|ENST00000434389	T;T;T;T;T;T;T;T|.|T	0.32023|.|0.32753	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47|.|1.44	4.02|4.02|4.02	2.89|2.89|2.89	0.33648|0.33648|0.33648	.|.|.	0.180634|.|.	0.26971|.|.	N|.|.	0.021563|.|.	T|T|T	0.18257|0.18257|0.18257	0.0438|0.0438|0.0438	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.19575|0.19575|0.19575	N|N|N	0.999961|0.999961|0.999961	P;B;B;B;B;B;B;B;B;B|.|.	0.39696|.|.	0.683;0.007;0.084;0.145;0.164;0.25;0.022;0.003;0.003;0.001|.|.	B;B;B;B;B;B;B;B;B;B|.|.	0.37198|.|.	0.243;0.002;0.007;0.01;0.115;0.115;0.003;0.001;0.001;0.001|.|.	T|T|T	0.11842|0.11842|0.11842	-1.0571|-1.0571|-1.0571	10|5|7	0.87932|.|0.52906	D|.|T	0|.|0.07	-8.0194|-8.0194|-8.0194	8.3636|8.3636|8.3636	0.32374|0.32374|0.32374	0.2344:0.7656:0.0:0.0|0.2344:0.7656:0.0:0.0|0.2344:0.7656:0.0:0.0	.|.|.	83;83;103;121;416;386;427;140;190;41|.|.	Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.|.	.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.|.	Y|D|I	41;140;427;123;140;386;416;190|130|137	ENSP00000386225:D41Y;ENSP00000384509:D140Y;ENSP00000342012:D427Y;ENSP00000412075:D123Y;ENSP00000392222:D140Y;ENSP00000405503:D386Y;ENSP00000391036:D416Y;ENSP00000406864:D190Y|.|ENSP00000388378:R137I	ENSP00000342012:D427Y|.|ENSP00000388378:R137I	D|E|R	-|-|-	1|3|2	0|2|0	DMKN|DMKN|DMKN	40683283|40683283|40683283	0.002000|0.002000|0.002000	0.14202|0.14202|0.14202	0.051000|0.051000|0.051000	0.19133|0.19133|0.19133	0.058000|0.058000|0.058000	0.15608|0.15608|0.15608	0.225000|0.225000|0.225000	0.17757|0.17757|0.17757	2.237000|2.237000|2.237000	0.73441|0.73441|0.73441	0.436000|0.436000|0.436000	0.28706|0.28706|0.28706	GAC|GAG|AGA		0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		8	7	1	0	0.00448238	1	0.00472561	8	7				
ZNF880	400713	broad.mit.edu	37	19	52887684	52887684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52887684C>T	ENST00000422689.2	+	4	866	c.851C>T	c.(850-852)gCa>gTa	p.A284V		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	284					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCTCACCTTGCAAATCATCAC	0.408																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(850-852)gCa>gTa		zinc finger protein 880							67.0	62.0	63.0					19																	52887684		1568	3582	5150	SO:0001583	missense	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887684C>T	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.851C>T	19.37:g.52887684C>T	ENSP00000406318:p.Ala284Val						p.A284V	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	866	+			284					B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	c.851C>T	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.265629	0.01433	.	.	ENSG00000221923	ENST00000422689	T	0.07800	3.16	2.03	0.938	0.19500	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.04275	-0.24	0.09310	N	1	B	0.24675	0.109	B	0.18561	0.022	T	0.45848	-0.9233	8	.	.	.	.	2.2274	0.03988	0.2468:0.4408:0.0:0.3125	.	284	Q6PDB4	ZN880_HUMAN	V	284	ENSP00000406318:A284V	.	A	+	2	0	ZNF880	57579496	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-3.129000	0.00591	0.180000	0.19960	0.551000	0.68910	GCA		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		4	20	0	0	0	1	0	4	20				
KLHL34	257240	broad.mit.edu	37	X	21675840	21675840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21675840G>A	ENST00000379499.2	-	1	608	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	23						extracellular space (GO:0005615)		p.R23C(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTCGGCGCGCAGGGCCTGG	0.642																																						ENST00000379499.2																			1	Substitution - Missense(1)	p.R23C(1)	endometrium(1)	cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(67-69)Cgc>Tgc		kelch-like family member 34							12.0	15.0	14.0					X																	21675840		2052	3995	6047	SO:0001583	missense	257240							g.chrX:21675840G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.67C>T	X.37:g.21675840G>A	ENSP00000368813:p.Arg23Cys						p.R23C	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	608	-			23						Missense_Mutation	SNP	ENST00000379499.2	37	c.67C>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193316	0.58017	.	.	ENSG00000185915	ENST00000379499	T	0.73152	-0.72	4.67	3.79	0.43588	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86427	0.1758	10	0.87932	D	0	.	12.1124	0.53846	0.0:0.0:0.6731:0.3269	.	23	Q8N239	KLH34_HUMAN	C	23	ENSP00000368813:R23C	ENSP00000368813:R23C	R	-	1	0	KLHL34	21585761	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.639000	0.61361	0.926000	0.37118	0.422000	0.28245	CGC		0.642	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		10	10	0	0	0	1	0	10	10				
MOB3C	148932	broad.mit.edu	37	1	47075341	47075341	+	Missense_Mutation	SNP	G	G	A	rs200410364		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47075341G>A	ENST00000319928.3	-	4	867	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	MOB3C_ENST00000477318.1_5'Flank|MOB3C_ENST00000371940.1_Missense_Mutation_p.R236W|MOB3C_ENST00000271139.8_Missense_Mutation_p.R265W|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	213							metal ion binding (GO:0046872)										TGGCAGATCCGCTCTGTCATC	0.557																																						ENST00000371940.1																			0											c.(706-708)Cgg>Tgg		MOB kinase activator 3C							95.0	84.0	88.0					1																	47075341		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47075341G>A	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.637C>T	1.37:g.47075341G>A	ENSP00000315113:p.Arg213Trp					MOB3C_ENST00000271139.8_Missense_Mutation_p.R265W|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000319928.3_Missense_Mutation_p.R213W	p.R236W			Q70IA8	MOL2C_HUMAN			3	3780	-			213					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.706C>T	CCDS540.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726138	0.89298	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.79	-0.592	0.11671	.	0.106321	0.64402	D	0.000012	T	0.57007	0.2024	L	0.50333	1.59	0.48571	D	0.999672	D	0.59767	0.986	P	0.48571	0.582	T	0.66064	-0.6016	9	0.87932	D	0	-22.2297	16.1615	0.81721	0.0:0.0:0.3106:0.6894	.	213	Q70IA8	MOB3C_HUMAN	W	213;265;236	.	ENSP00000271139:R265W	R	-	1	2	MOBKL2C	46847928	0.094000	0.21725	0.965000	0.40720	0.995000	0.86356	0.442000	0.21628	0.003000	0.14656	0.655000	0.94253	CGG		0.557	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		5	23	0	0	0	1	0	5	23				
BCL9L	283149	broad.mit.edu	37	11	118773031	118773031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118773031G>T	ENST00000334801.3	-	6	2385	c.1421C>A	c.(1420-1422)tCa>tAa	p.S474*	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	474	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGTGTCTGTGAAATCATGGA	0.652																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1420-1422)tCa>tAa		B-cell CLL/lymphoma 9-like							43.0	54.0	50.0					11																	118773031		2152	4246	6398	SO:0001587	stop_gained	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773031G>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1421C>A	11.37:g.118773031G>T	ENSP00000335320:p.Ser474*					BCL9L_ENST00000526143.1_5'UTR	p.S474*	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2385	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	474			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Nonsense_Mutation	SNP	ENST00000334801.3	37	c.1421C>A	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	43	10.207139	0.99359	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	.	.	.	4.62	3.67	0.42095	.	0.193157	0.25063	N	0.033429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6896	13.8842	0.63699	0.0:0.0:0.8463:0.1537	.	.	.	.	X	474;437;474;474	.	ENSP00000335320:S474X	S	-	2	0	BCL9L	118278241	1.000000	0.71417	0.793000	0.32043	0.219000	0.24729	9.343000	0.97047	1.121000	0.41925	0.305000	0.20034	TCA		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		12	100	1	0	2.80697e-09	1	3.39963e-09	12	100				
KIAA2022	340533	broad.mit.edu	37	X	73960267	73960267	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960267C>A	ENST00000055682.6	-	3	4736	c.4125G>T	c.(4123-4125)caG>caT	p.Q1375H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1375					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTTAGACTCCTGTGGTGTCC	0.458																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4123-4125)caG>caT		KIAA2022							118.0	92.0	101.0					X																	73960267		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960267C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4125G>T	X.37:g.73960267C>A	ENSP00000055682:p.Gln1375His					KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1375H	p.Q1375H			Q5QGS0	K2022_HUMAN			3	4776	-			1375					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4125G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171627	0.38315	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.34859	1.34;1.34	5.55	-0.589	0.11683	.	0.526319	0.21831	N	0.068467	T	0.36880	0.0983	L	0.29908	0.895	0.41127	D	0.985851	D	0.63880	0.993	P	0.56514	0.8	T	0.20174	-1.0283	10	0.87932	D	0	-2.06	11.0946	0.48137	0.0:0.3844:0.0:0.6156	.	1375	Q5QGS0	K2022_HUMAN	H	1375	ENSP00000362567:Q1375H;ENSP00000055682:Q1375H	ENSP00000055682:Q1375H	Q	-	3	2	KIAA2022	73876992	0.037000	0.19845	0.992000	0.48379	0.997000	0.91878	-0.835000	0.04386	-0.184000	0.10567	0.544000	0.68410	CAG		0.458	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		8	79	1	0	3.09899e-07	1	3.63227e-07	8	79				
PI4KB	5298	broad.mit.edu	37	1	151261878	151261878	+	IGR	SNP	C	C	T	rs146722973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151261878C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.C832C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GCGCCATGTGCGACACAGTCT	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		19407	0.0		0.0	False		,,,				2504	0.002				Colon(154;765 1838 9854 28443 37492)	ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2494-2496)tgC>tgT		zinc finger protein 687		C		0,4406		0,0,2203	203.0	162.0	176.0		2496	-3.2	1.0	1	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF687	NM_020832.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		832/1238	151261878	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261878C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261878C>T							p.C832C	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	2594	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		832					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2496C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.633	-0.285901	0.05605	0.0	2.33E-4	ENSG00000143373	ENST00000426871	.	.	.	5.13	-3.17	0.05202	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55761	-0.8090	4	.	.	.	.	12.7376	0.57234	0.0:0.5073:0.0:0.4927	.	.	.	.	V	435	.	.	A	+	2	0	ZNF687	149528502	0.996000	0.38824	0.965000	0.40720	0.486000	0.33341	0.316000	0.19469	-0.785000	0.04522	-0.340000	0.08031	GCG		0.602	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		39	36	0	0	0	1	0	39	36				
SERTM1	400120	broad.mit.edu	37	13	37269218	37269218	+	Start_Codon_SNP	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37269218G>A	ENST00000315190.3	+	2	449	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	1						integral component of membrane (GO:0016021)											CCATAAAGATGTCTGAACCTG	0.463																																						ENST00000315190.3																			0											c.(1-3)atG>atA		serine-rich and transmembrane domain containing 1							88.0	86.0	87.0					13																	37269218		2203	4300	6503	SO:0001582	initiator_codon_variant	400120					integral to membrane		g.chr13:37269218G>A		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.3G>A	13.37:g.37269218G>A	ENSP00000325776:p.Met1Ile						p.M1I	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	449	+			1					Q8N469	Translation_Start_Site	SNP	ENST00000315190.3	37	c.3G>A	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385070	0.25031	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.19	5.19	0.71726	.	0.165341	0.56097	D	0.000038	T	0.71660	0.3366	.	.	.	0.80722	D	1	P	0.42039	0.769	P	0.49332	0.607	T	0.75599	-0.3262	8	0.87932	D	0	-26.1917	17.706	0.88309	0.0:0.0:1.0:0.0	.	1	A2A2V5	SRTM1_HUMAN	I	1	.	ENSP00000325776:M1I	M	+	3	0	SERTM1	36167218	1.000000	0.71417	0.982000	0.44146	0.069000	0.16628	7.177000	0.77650	2.393000	0.81446	0.563000	0.77884	ATG		0.463	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451	Missense_Mutation	20	63	0	0	0	1	0	20	63				
APOB	338	broad.mit.edu	37	2	21255269	21255269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21255269G>A	ENST00000233242.1	-	10	1436	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	APOB_ENST00000399256.4_Missense_Mutation_p.R437C	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	437	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCGGCTGCGCTGATCCCTC	0.572																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(1309-1311)Cgc>Tgc		apolipoprotein B	Atorvastatin(DB01076)						81.0	77.0	78.0					2																	21255269		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21255269G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1309C>T	2.37:g.21255269G>A	ENSP00000233242:p.Arg437Cys					APOB_ENST00000399256.4_Missense_Mutation_p.R437C	p.R437C	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			10	1436	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		437			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1309C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563471	0.86335	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.44482	0.92;0.92	5.26	5.26	0.73747	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.484707	0.18796	N	0.130938	T	0.36026	0.0952	N	0.08118	0	0.46096	D	0.998865	D	0.63046	0.992	P	0.54174	0.744	T	0.33007	-0.9885	10	0.62326	D	0.03	.	12.5962	0.56470	0.0765:0.0:0.9235:0.0	.	437	P04114	APOB_HUMAN	C	437	ENSP00000233242:R437C;ENSP00000382200:R437C	ENSP00000233242:R437C	R	-	1	0	APOB	21108774	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.386000	0.59620	2.622000	0.88805	0.650000	0.86243	CGC		0.572	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			24	39	0	0	0	1	0	24	39				
DNASE2B	58511	broad.mit.edu	37	1	84878087	84878087	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84878087C>A	ENST00000370665.3	+	5	636	c.603C>A	c.(601-603)acC>acA	p.T201T	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	201					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCCCAGCCACCTTTCACCAGG	0.517																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(601-603)acC>acA		deoxyribonuclease II beta							88.0	88.0	88.0					1																	84878087		2203	4300	6503	SO:0001819	synonymous_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84878087C>A	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.603C>A	1.37:g.84878087C>A						DNASE2B_ENST00000370662.3_5'UTR	p.T201T	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	5	636	+			201					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	c.603C>A	CCDS44167.1																																																																																				0.517	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		4	100	1	0	0.014758	1	0.0152625	4	100				
GATAD2A	54815	broad.mit.edu	37	19	19603460	19603460	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19603460A>C	ENST00000360315.3	+	4	785	c.473A>C	c.(472-474)aAa>aCa	p.K158T	GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000429563.2_Missense_Mutation_p.K15T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.K158T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000404158.1_Missense_Mutation_p.K158T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	158	CR1; MBD2-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAAGAAGCAAAACTCGTGTTG	0.517																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(472-474)aAa>aCa		GATA zinc finger domain containing 2A							147.0	140.0	142.0					19																	19603460		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19603460A>C	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.473A>C	19.37:g.19603460A>C	ENSP00000353463:p.Lys158Thr					GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.K15T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.K158T	p.K158T			Q86YP4	P66A_HUMAN			6	891	+			158					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.473A>C	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	A	34	5.309752	0.95629	.	.	ENSG00000167491	ENST00000417582;ENST00000360315;ENST00000252577;ENST00000457895;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T;T	0.61742	0.08;0.61;0.58;0.23;0.61;0.26	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.991;0.999;0.996	T	0.77713	-0.2485	10	0.72032	D	0.01	-23.4412	14.8548	0.70329	1.0:0.0:0.0:0.0	.	15;177;158	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	158;158;158;158;177;158;15	ENSP00000403703:K158T;ENSP00000353463:K158T;ENSP00000252577:K158T;ENSP00000404212:K158T;ENSP00000351552:K158T;ENSP00000388416:K15T	ENSP00000252577:K158T	K	+	2	0	GATAD2A	19464460	1.000000	0.71417	0.864000	0.33941	0.968000	0.65278	6.245000	0.72398	2.252000	0.74401	0.459000	0.35465	AAA		0.517	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		8	62	0	0	0	1	0	8	62				
SYT17	51760	broad.mit.edu	37	16	19195193	19195193	+	Silent	SNP	G	G	A	rs541826916		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19195193G>A	ENST00000355377.2	+	5	1073	c.675G>A	c.(673-675)gcG>gcA	p.A225A	SYT17_ENST00000568115.1_Silent_p.A164A|SYT17_ENST00000562034.1_Silent_p.A164A|SYT17_ENST00000562711.2_Silent_p.A221A	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	225	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGGACATGGCGCACTCCAACC	0.612													g|||	1	0.000199681	0.0	0.0	5008	,	,		18123	0.0		0.001	False		,,,				2504	0.0					ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(490-492)gcG>gcA		synaptotagmin XVII							127.0	118.0	121.0					16																	19195193		2197	4300	6497	SO:0001819	synonymous_variant	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195193G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.675G>A	16.37:g.19195193G>A						SYT17_ENST00000568115.1_Silent_p.A164A|SYT17_ENST00000355377.2_Silent_p.A225A|SYT17_ENST00000562711.2_Silent_p.A221A	p.A164A			Q9BSW7	SYT17_HUMAN			3	4290	+			225					O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	c.492G>A	CCDS10575.1																																																																																				0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		67	86	0	0	0	1	0	67	86				
USH1G	124590	broad.mit.edu	37	17	72916250	72916250	+	Silent	SNP	G	G	A	rs370027457		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72916250G>A	ENST00000319642.1	-	2	863	c.681C>T	c.(679-681)ggC>ggT	p.G227G		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	227					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTGCCTTCGCCGCCCTGCT	0.687																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(679-681)ggC>ggT		Usher syndrome 1G (autosomal recessive)		G		0,4386		0,0,2193	44.0	48.0	47.0		681	0.4	1.0	17		47	1,8529		0,1,4264	no	coding-synonymous	USH1G	NM_173477.2		0,1,6457	AA,AG,GG		0.0117,0.0,0.0077		227/462	72916250	1,12915	2193	4265	6458	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916250G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.681C>T	17.37:g.72916250G>A							p.G227G	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	863	-	all_lung(278;0.172)|Lung NSC(278;0.207)		227					Q8N251	Silent	SNP	ENST00000319642.1	37	c.681C>T	CCDS32725.1																																																																																				0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		20	38	0	0	0	1	0	20	38				
LIX1	167410	broad.mit.edu	37	5	96443187	96443187	+	Silent	SNP	G	G	A	rs536009189	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96443187G>A	ENST00000274382.4	-	3	559	c.264C>T	c.(262-264)gcC>gcT	p.A88A	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	88										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCCTGGCCTCGGCTCTACTTA	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		18372	0.0		0.0	False		,,,				2504	0.002					ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(262-264)gcC>gcT		Lix1 homolog (chicken)							89.0	82.0	85.0					5																	96443187		2203	4300	6503	SO:0001819	synonymous_variant	167410							g.chr5:96443187G>A		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.264C>T	5.37:g.96443187G>A						CTD-2215E18.1_ENST00000509481.1_Intron	p.A88A	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	3	559	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	88					A8K4R9|Q8N7I2	Silent	SNP	ENST00000274382.4	37	c.264C>T	CCDS4088.1																																																																																				0.493	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		29	38	0	0	0	1	0	29	38				
PRRC2A	7916	broad.mit.edu	37	6	31596972	31596972	+	Missense_Mutation	SNP	C	C	T	rs116181516	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31596972C>T	ENST00000376033.2	+	13	2051	c.1817C>T	c.(1816-1818)cCt>cTt	p.P606L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P606L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	606	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAAGAGGTTCCTCCTCCTACC	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		16742	0.002		0.0	False		,,,				2504	0.0					ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1816-1818)cCt>cTt		proline-rich coiled-coil 2A							114.0	111.0	112.0					6																	31596972		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31596972C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1817C>T	6.37:g.31596972C>T	ENSP00000365201:p.Pro606Leu					PRRC2A_ENST00000376007.4_Missense_Mutation_p.P606L	p.P606L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			13	2051	+			606			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1817C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391956	0.62066	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.07327	3.2;3.2	5.55	4.69	0.59074	.	0.112696	0.40728	N	0.001023	T	0.03739	0.0106	L	0.36672	1.1	0.58432	D	0.999997	B	0.16166	0.016	B	0.14023	0.01	T	0.16217	-1.0410	10	0.87932	D	0	-3.7155	13.3674	0.60692	0.0:0.9237:0.0:0.0763	.	606	P48634	PRC2A_HUMAN	L	606;595;606;606	ENSP00000365175:P606L;ENSP00000365201:P606L	ENSP00000365175:P606L	P	+	2	0	PRRC2A	31704951	0.991000	0.36638	1.000000	0.80357	0.959000	0.62525	2.353000	0.44089	1.593000	0.50029	0.655000	0.94253	CCT		0.537	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		17	118	0	0	0	1	0	17	118				
MYBPHL	343263	broad.mit.edu	37	1	109838869	109838869	+	Missense_Mutation	SNP	C	C	T	rs143483325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109838869C>T	ENST00000357155.1	-	6	903	c.854G>A	c.(853-855)cGc>cAc	p.R285H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	285	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GGGAGAGGCGCGGACACAGCA	0.577																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(853-855)cGc>cAc		myosin binding protein H-like		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	82.0	79.0		854	2.3	0.9	1	dbSNP_134	79	0,8600		0,0,4300	no	missense	MYBPHL	NM_001010985.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	285/355	109838869	1,13005	2203	4300	6503	SO:0001583	missense	343263							g.chr1:109838869C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.854G>A	1.37:g.109838869C>T	ENSP00000349678:p.Arg285His					MYBPHL_ENST00000477962.1_Intron	p.R285H	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	6	903	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	285			Ig-like C2-type 2.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.854G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877250	0.72294	2.27E-4	0.0	ENSG00000221986	ENST00000357155	T	0.67865	-0.29	5.16	2.28	0.28536	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70919	0.3279	M	0.80982	2.52	0.40716	D	0.982611	D;D	0.89917	0.999;1.0	D;D	0.70716	0.97;0.954	T	0.71866	-0.4463	9	0.66056	D	0.02	.	7.1204	0.25442	0.0:0.6993:0.1409:0.1598	.	262;285	B7ZME5;A2RUH7	.;MBPHL_HUMAN	H	285	ENSP00000349678:R285H	ENSP00000349678:R285H	R	-	2	0	MYBPHL	109640392	0.956000	0.32656	0.871000	0.34182	0.768000	0.43524	2.336000	0.43938	0.347000	0.23924	0.561000	0.74099	CGC		0.577	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		7	126	0	0	0	1	0	7	126				
SLC6A15	55117	broad.mit.edu	37	12	85257248	85257248	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85257248A>T	ENST00000266682.5	-	11	2329	c.1788T>A	c.(1786-1788)ccT>ccA	p.P596P	SLC6A15_ENST00000309283.7_Silent_p.P304P|SLC6A15_ENST00000552192.1_Silent_p.P489P	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	596					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATAGCCAGGAGGACTTAATC	0.308																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1786-1788)ccT>ccA		solute carrier family 6 (neutral amino acid transporter), member 15							90.0	97.0	94.0					12																	85257248		2203	4295	6498	SO:0001819	synonymous_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85257248A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1788T>A	12.37:g.85257248A>T						SLC6A15_ENST00000309283.7_Silent_p.P304P|SLC6A15_ENST00000552192.1_Silent_p.P489P	p.P596P	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			11	2329	-			596					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	37	c.1788T>A	CCDS9026.1																																																																																				0.308	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		11	114	0	0	0	1	0	11	114				
GSTA5	221357	broad.mit.edu	37	6	52699064	52699064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52699064C>T	ENST00000370989.2	-	4	318	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.E97K			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	97	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACTATACCTTCTGTGTACATA	0.348																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(289-291)Gaa>Aaa		glutathione S-transferase alpha 5	Glutathione(DB00143)						136.0	130.0	132.0					6																	52699064		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699064C>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.289G>A	6.37:g.52699064C>T	ENSP00000360028:p.Glu97Lys					GSTA5_ENST00000284562.2_Missense_Mutation_p.E97K|GSTA5_ENST00000475052.1_5'UTR	p.E97K			Q7RTV2	GSTA5_HUMAN			5	447	-	Lung NSC(77;0.0912)		97			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.289G>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541902	0.65198	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01838	4.61;4.61	2.58	2.58	0.30949	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	M	0.90705	3.14	0.48087	D	0.999588	D	0.61080	0.989	D	0.70016	0.967	T	0.01557	-1.1325	10	0.72032	D	0.01	.	11.3372	0.49511	0.0:1.0:0.0:0.0	.	97	Q7RTV2	GSTA5_HUMAN	K	97	ENSP00000360028:E97K;ENSP00000284562:E97K	ENSP00000284562:E97K	E	-	1	0	GSTA5	52807023	1.000000	0.71417	0.143000	0.22291	0.100000	0.18952	6.555000	0.73928	1.446000	0.47643	0.184000	0.17185	GAA		0.348	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		49	68	0	0	0	1	0	49	68				
MUC17	140453	broad.mit.edu	37	7	100693793	100693793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100693793G>A	ENST00000306151.4	+	7	12815	c.12751G>A	c.(12751-12753)Gtc>Atc	p.V4251I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4251	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGCATGACGTCCTCCTAAG	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12751-12753)Gtc>Atc		mucin 17, cell surface associated							173.0	154.0	161.0					7																	100693793		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100693793G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12751G>A	7.37:g.100693793G>A	ENSP00000302716:p.Val4251Ile						p.V4251I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			7	12815	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4251			SEA.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12751G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	7.473	0.647166	0.14516	.	.	ENSG00000169876	ENST00000306151	T	0.45668	0.89	4.52	-0.478	0.12093	SEA (3);	.	.	.	.	T	0.25717	0.0626	L	0.37750	1.13	0.09310	N	1	P	0.44521	0.837	B	0.33846	0.171	T	0.08994	-1.0695	9	0.48119	T	0.1	.	7.6051	0.28097	0.4829:0.0:0.5171:0.0	.	4251	Q685J3	MUC17_HUMAN	I	4251	ENSP00000302716:V4251I	ENSP00000302716:V4251I	V	+	1	0	MUC17	100480513	0.309000	0.24518	0.001000	0.08648	0.117000	0.20001	0.421000	0.21280	-0.307000	0.08804	-0.793000	0.03317	GTC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		42	37	0	0	0	1	0	42	37				
ZNF532	55205	broad.mit.edu	37	18	56587422	56587422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56587422T>C	ENST00000336078.4	+	4	2679	c.1903T>C	c.(1903-1905)Tac>Cac	p.Y635H	ZNF532_ENST00000591808.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591230.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591083.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000589288.1_Missense_Mutation_p.Y635H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACCCAGCACTACGACAGACG	0.537																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1903-1905)Tac>Cac		zinc finger protein 532							77.0	67.0	70.0					18																	56587422		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587422T>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1903T>C	18.37:g.56587422T>C	ENSP00000338217:p.Tyr635His					ZNF532_ENST00000591230.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000589288.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591083.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591808.1_Missense_Mutation_p.Y635H	p.Y635H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	2679	+			635					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1903T>C	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	18.48	3.633198	0.67015	.	.	ENSG00000074657	ENST00000336078	T	0.36878	1.23	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	N	0.17674	0.51	0.80722	D	1	D	0.69078	0.997	D	0.62955	0.909	T	0.30031	-0.9992	10	0.34782	T	0.22	-15.9652	15.7946	0.78401	0.0:0.0:0.0:1.0	.	635	Q9HCE3	ZN532_HUMAN	H	635	ENSP00000338217:Y635H	ENSP00000338217:Y635H	Y	+	1	0	ZNF532	54738402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.982000	0.88131	2.215000	0.71742	0.445000	0.29226	TAC		0.537	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		19	26	0	0	0	1	0	19	26				
RECQL	5965	broad.mit.edu	37	12	21643136	21643136	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21643136C>A	ENST00000444129.2	-	4	859	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	RECQL_ENST00000421138.2_Missense_Mutation_p.D131Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	131	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TACATACCATCTGAACATAAT	0.294								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(391-393)Gat>Tat	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							88.0	86.0	87.0					12																	21643136		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21643136C>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.391G>T	12.37:g.21643136C>A	ENSP00000416739:p.Asp131Tyr					RECQL_ENST00000421138.2_Missense_Mutation_p.D131Y	p.D131Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			4	859	-			131			Helicase ATP-binding.		A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.391G>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624835	0.66901	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432	T;T;T;T;T	0.76186	-1.0;-1.0;2.27;2.27;-0.52	5.29	4.33	0.51752	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.238594	0.43110	D	0.000618	D	0.85818	0.5785	M	0.87900	2.915	0.49130	D	0.99975	D	0.64830	0.994	P	0.60286	0.872	D	0.88334	0.2970	10	0.66056	D	0.02	.	15.6907	0.77450	0.0:0.863:0.137:0.0	.	131	P46063	RECQ1_HUMAN	Y	131	ENSP00000416739:D131Y;ENSP00000395449:D131Y;ENSP00000379400:D131Y;ENSP00000318727:D131Y;ENSP00000445555:D131Y	ENSP00000318727:D131Y	D	-	1	0	RECQL	21534403	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	3.065000	0.49994	2.615000	0.88500	0.650000	0.86243	GAT		0.294	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		6	72	1	0	0.0215528	1	0.0221649	6	72				
ARMC4	55130	broad.mit.edu	37	10	28151500	28151500	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28151500T>C	ENST00000305242.5	-	18	2754	c.2662A>G	c.(2662-2664)Aat>Gat	p.N888D	ARMC4_ENST00000545014.1_Missense_Mutation_p.N413D|ARMC4_ENST00000537576.1_Missense_Mutation_p.N580D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	888					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCAGTAAATTGACAATAAGT	0.343																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2662-2664)Aat>Gat		armadillo repeat containing 4							103.0	97.0	99.0					10																	28151500		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28151500T>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2662A>G	10.37:g.28151500T>C	ENSP00000306410:p.Asn888Asp					ARMC4_ENST00000537576.1_Missense_Mutation_p.N580D|ARMC4_ENST00000545014.1_Missense_Mutation_p.N413D	p.N888D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			18	2754	-			888					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2662A>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891519	0.52014	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.94537	-3.45;-3.45;-3.45	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.129702	0.64402	D	0.000002	D	0.91274	0.7249	L	0.40543	1.245	0.80722	D	1	B;B	0.20887	0.021;0.049	B;B	0.17433	0.008;0.018	D	0.87694	0.2556	10	0.25106	T	0.35	-30.7735	16.3322	0.83039	0.0:0.0:0.0:1.0	.	413;888	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	D	580;888;413	ENSP00000443208:N580D;ENSP00000306410:N888D;ENSP00000441076:N413D	ENSP00000306410:N888D	N	-	1	0	ARMC4	28191506	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.071000	0.71229	2.251000	0.74343	0.528000	0.53228	AAT		0.343	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		25	34	0	0	0	1	0	25	34				
ZNF536	9745	broad.mit.edu	37	19	30935400	30935400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935400C>T	ENST00000355537.3	+	2	1078	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	311					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCGGCTTCGCAGGAGGAGGA	0.642																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(931-933)Cag>Tag		zinc finger protein 536							79.0	88.0	85.0					19																	30935400		2203	4300	6503	SO:0001587	stop_gained	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935400C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.931C>T	19.37:g.30935400C>T	ENSP00000347730:p.Gln311*						p.Q311*	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1078	+	Esophageal squamous(110;0.0834)		311					A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	c.931C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947210	0.73672	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.59	5.59	0.84812	.	0.059899	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-31.274	19.5661	0.95393	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000347730:Q311X	Q	+	1	0	ZNF536	35627240	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.970000	0.70431	2.631000	0.89168	0.491000	0.48974	CAG		0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	101	0	0	0	1	0	10	101				
FAM120B	84498	broad.mit.edu	37	6	170626873	170626873	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170626873T>A	ENST00000476287.1	+	2	503	c.395T>A	c.(394-396)tTc>tAc	p.F132Y	FAM120B_ENST00000537664.1_Missense_Mutation_p.F155Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.F144Y|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	132					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AATATGTTCTTCATCCCCTCA	0.453																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(394-396)tTc>tAc		family with sequence similarity 120B							84.0	79.0	81.0					6																	170626873		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626873T>A	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.395T>A	6.37:g.170626873T>A	ENSP00000417970:p.Phe132Tyr					FAM120B_ENST00000537664.1_Missense_Mutation_p.F155Y|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.F144Y	p.F132Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	503	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	132					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.395T>A	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936780	0.73557	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.58506	0.33;0.33;0.33	6.07	6.07	0.98685	.	0.044828	0.85682	D	0.000000	T	0.52613	0.1745	L	0.54323	1.7	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.56216	0.794;0.705	T	0.52946	-0.8507	10	0.09338	T	0.73	-38.143	16.6407	0.85098	0.0:0.0:0.0:1.0	.	132;132	Q96EK7;F2Z2E1	F120B_HUMAN;.	Y	144;155;132	ENSP00000444125:F144Y;ENSP00000440125:F155Y;ENSP00000417970:F132Y	ENSP00000436640:F132Y	F	+	2	0	FAM120B	170468798	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	3.006000	0.49529	2.326000	0.78906	0.533000	0.62120	TTC		0.453	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		34	68	0	0	0	1	0	34	68				
ERC1	23085	broad.mit.edu	37	12	1291148	1291148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1291148G>T	ENST00000397203.2	+	10	2339	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	ERC1_ENST00000589028.1_Nonsense_Mutation_p.E645*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E645*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E617*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E645*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E645*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	645					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGAAGCAAGAGGAAATTGA	0.413																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1933-1935)Gag>Tag		ELKS/RAB6-interacting/CAST family member 1							72.0	73.0	73.0					12																	1291148		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1291148G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1933G>T	12.37:g.1291148G>T	ENSP00000380386:p.Glu645*					ERC1_ENST00000543086.3_Nonsense_Mutation_p.E617*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E645*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E645*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E645*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E645*	p.E645*			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		10	2339	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		645					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.1933G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	40	8.226073	0.98714	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.19	5.19	0.71726	.	0.049667	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.1467	18.7312	0.91735	0.0:0.0:1.0:0.0	.	.	.	.	X	617;645;617;617;345;617;617;345;645;645;645;617;393;285	.	ENSP00000299183:E345X	E	+	1	0	ERC1	1161409	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.427000	0.82271	0.655000	0.94253	GAG		0.413	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		8	33	1	0	0.000157383	1	0.00017284	8	33				
PTK2	5747	broad.mit.edu	37	8	141889570	141889570	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141889570T>A	ENST00000522684.1	-	4	591	c.362A>T	c.(361-363)aAa>aTa	p.K121I	PTK2_ENST00000535192.1_Splice_Site_p.K121I|PTK2_ENST00000340930.3_Splice_Site_p.K121I|PTK2_ENST00000395218.2_Splice_Site_p.K121I|PTK2_ENST00000519419.1_Splice_Site_p.K165I|PTK2_ENST00000517887.1_Splice_Site_p.K165I|PTK2_ENST00000520892.1_Missense_Mutation_p.K121M|PTK2_ENST00000519881.1_Missense_Mutation_p.K121M|PTK2_ENST00000521059.1_Splice_Site_p.K121I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGTATCTTACTTCCACTCCTC	0.438																																						ENST00000519881.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(361-363)aAg>aTg		protein tyrosine kinase 2							179.0	170.0	173.0					8																	141889570		2203	4300	6503	SO:0001630	splice_region_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141889570T>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.362+1A>T	8.37:g.141889570T>A						PTK2_ENST00000340930.3_Splice_Site_p.K121_splice|PTK2_ENST00000519419.1_Splice_Site_p.K165_splice|PTK2_ENST00000522684.1_Splice_Site_p.K121_splice|PTK2_ENST00000521059.1_Splice_Site_p.K121_splice|PTK2_ENST00000535192.1_Splice_Site_p.K121_splice|PTK2_ENST00000517887.1_Splice_Site_p.K165_splice|PTK2_ENST00000395218.2_Splice_Site_p.K121_splice|PTK2_ENST00000520892.1_Missense_Mutation_p.K121M	p.K121M			Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		3	553	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	121			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.362A>T	CCDS6381.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	26.7|26.7|26.7	4.761172|4.761172|4.761172	0.89932|0.89932|0.89932	.|.|.	.|.|.	ENSG00000169398|ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000340930;ENST00000519419;ENST00000520828;ENST00000520475|ENST00000519881;ENST00000520892	.|T;T;T;T;T;T;T|.	.|0.79749|.	.|-1.29;-1.28;-1.3;-1.29;-1.29;-1.29;-1.3|.	5.36|5.36|5.36	5.36|5.36|5.36	0.76844|0.76844|0.76844	.|Band 4.1 domain (1);FERM domain (1);|.	.|0.042931|0.042931	.|0.85682|0.85682	.|D|D	.|0.000000|0.000000	T|T|T	0.62684|0.62684|0.62684	0.2448|0.2448|0.2448	L|L|L	0.39898|0.39898|0.39898	1.24|1.24|1.24	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;P;P;P;B|.	.|0.44044|.	.|0.726;0.825;0.591;0.548;0.337|.	.|B;B;P;B;B|.	.|0.54100|.	.|0.407;0.407;0.742;0.327;0.442|.	T|T|T	0.66344|0.66344|0.66344	-0.5947|-0.5947|-0.5947	5|10|7	.|0.87932|0.87932	.|D|D	.|0|0	.|.|.	15.6584|15.6584|15.6584	0.77162|0.77162|0.77162	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|121;121;143;121;32|.	.|B4E2N6;Q05397;Q658W2;Q8IYN9;Q59GM6|.	.|.;FAK1_HUMAN;.;.;.|.	D|I|M	131|121;121;165;121;31;121;121;165;20;121|121	.|ENSP00000429911:K121I;ENSP00000438009:K121I;ENSP00000429082:K165I;ENSP00000429474:K121I;ENSP00000378644:K121I;ENSP00000341189:K121I;ENSP00000429129:K165I|.	.|ENSP00000341189:K121I|ENSP00000430277:K121M	E|K|K	-|-|-	3|2|2	2|0|0	PTK2|PTK2|PTK2	141958752|141958752|141958752	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	5.473000|5.473000|5.473000	0.66774|0.66774|0.66774	2.160000|2.160000|2.160000	0.67779|0.67779|0.67779	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAA|AAA|AAG		0.438	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	Missense_Mutation	62	96	0	0	0	1	0	62	96				
FITM1	161247	broad.mit.edu	37	14	24600812	24600812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24600812G>A	ENST00000267426.5	+	1	329	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	FITM1_ENST00000559294.1_5'Flank|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R201Q	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	14					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						actgggggccggggcCCGAAT	0.677																																						ENST00000267426.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(40-42)Ggg>Agg		fat storage-inducing transmembrane protein 1																																				SO:0001583	missense	161247				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		g.chr14:24600812G>A		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.40G>A	14.37:g.24600812G>A	ENSP00000267426:p.Gly14Arg					RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.201_201insQ	p.G14R	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN			1	329	+			14					Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.40G>A	CCDS9611.1	.	.	.	.	.	.	.	.	.	.	a	1.309	-0.602776	0.03744	.	.	ENSG00000139914	ENST00000267426	.	.	.	4.6	2.78	0.32641	.	0.141195	0.32624	N	0.005854	T	0.27559	0.0677	N	0.14661	0.345	0.80722	D	1	B	0.24043	0.096	B	0.08055	0.003	T	0.08534	-1.0717	9	0.07482	T	0.82	-8.3356	8.9478	0.35769	0.195:0.0:0.805:0.0	.	14	A5D6W6	FITM1_HUMAN	R	14	.	ENSP00000267426:G14R	G	+	1	0	FITM1	23670652	0.195000	0.23338	0.294000	0.24946	0.053000	0.15095	0.333000	0.19768	0.203000	0.20529	-1.295000	0.01343	GGG		0.677	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		3	5	0	0	0	1	0	3	5				
ATP2A2	488	broad.mit.edu	37	12	110780139	110780139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110780139C>T	ENST00000539276.2	+	15	2313	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	ATP2A2_ENST00000395494.2_Missense_Mutation_p.A708V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.A735V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	735					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGTCCTGGCGGATGACAAC	0.552																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2122-2124)gCg>gTg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							133.0	113.0	120.0					12																	110780139		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110780139C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2204C>T	12.37:g.110780139C>T	ENSP00000440045:p.Ala735Val					ATP2A2_ENST00000539276.2_Missense_Mutation_p.A735V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.A735V	p.A708V			P16615	AT2A2_HUMAN			14	2686	+			735					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2123C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134958	0.56828	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.97731	-4.51;-4.51;-4.51	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	N	0.25957	0.775	0.80722	D	1	P;P;P	0.37781	0.526;0.591;0.608	B;B;B	0.24848	0.056;0.013;0.014	D	0.93982	0.7259	10	0.49607	T	0.09	.	18.8916	0.92407	0.0:1.0:0.0:0.0	.	708;735;735	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	V	735;708;735	ENSP00000311186:A735V;ENSP00000378872:A708V;ENSP00000440045:A735V	ENSP00000311186:A735V	A	+	2	0	ATP2A2	109264522	1.000000	0.71417	0.948000	0.38648	0.081000	0.17604	7.818000	0.86416	2.469000	0.83416	0.561000	0.74099	GCG		0.552	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		22	32	0	0	0	1	0	22	32				
NLGN4X	57502	broad.mit.edu	37	X	5821215	5821215	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821215T>C	ENST00000381095.3	-	5	2131	c.1504A>G	c.(1504-1506)Atc>Gtc	p.I502V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.I502V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I522V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I502V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I502V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	502					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGGGACCGATCATGGGGATG	0.532																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1504-1506)Atc>Gtc		neuroligin 4, X-linked							101.0	84.0	90.0					X																	5821215		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821215T>C	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1504A>G	X.37:g.5821215T>C	ENSP00000370485:p.Ile502Val					NLGN4X_ENST00000275857.6_Missense_Mutation_p.I502V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I522V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I502V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I502V	p.I502V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2131	-			502					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1504A>G	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.160165	0.00028	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	3.93	1.38	0.22167	Carboxylesterase, type B (1);	.	.	.	.	T	0.23965	0.0580	N	0.05177	-0.1	0.28795	N	0.899083	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.17979	0.001;0.003;0.02	T	0.32428	-0.9907	9	0.02654	T	1	.	6.7306	0.23381	0.1385:0.0865:0.0:0.775	.	559;502;522	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	502;522;502;502;502	ENSP00000370485:I502V;ENSP00000370483:I522V;ENSP00000275857:I502V;ENSP00000370482:I502V;ENSP00000439203:I502V	ENSP00000275857:I502V	I	-	1	0	NLGN4X	5831215	1.000000	0.71417	0.301000	0.25044	0.034000	0.12701	2.586000	0.46119	-0.451000	0.07097	-2.682000	0.00141	ATC		0.532	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		26	36	0	0	0	1	0	26	36				
CCDC102B	79839	broad.mit.edu	37	18	66564467	66564467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66564467G>A	ENST00000360242.5	+	6	1182	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	RP11-861L17.3_ENST00000584226.1_5'Flank|CCDC102B_ENST00000319445.6_Silent_p.L355L|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Silent_p.L355L|CCDC102B_ENST00000358653.5_Silent_p.L355L	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	355										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAGAGAGATTGCAAGCTGAAA	0.433																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1063-1065)ttG>ttA		coiled-coil domain containing 102B							86.0	93.0	91.0					18																	66564467		2203	4299	6502	SO:0001819	synonymous_variant	79839							g.chr18:66564467G>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1065G>A	18.37:g.66564467G>A						CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.L355L|CCDC102B_ENST00000584156.1_Silent_p.L355L|CCDC102B_ENST00000319445.6_Silent_p.L355L	p.L355L	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			6	1182	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	355					Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	c.1065G>A	CCDS11996.2																																																																																				0.433	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		27	44	0	0	0	1	0	27	44				
CEP68	23177	broad.mit.edu	37	2	65309818	65309818	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65309818G>T	ENST00000377990.2	+	6	2456	c.2253G>T	c.(2251-2253)gaG>gaT	p.E751D	CEP68_ENST00000260569.4_Missense_Mutation_p.E614D|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	751					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGGCAATGGAGCACCCATGTG	0.512																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2251-2253)gaG>gaT		centrosomal protein 68kDa							100.0	97.0	98.0					2																	65309818		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65309818G>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2253G>T	2.37:g.65309818G>T	ENSP00000367229:p.Glu751Asp					RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.E614D	p.E751D	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			6	2456	+			751					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.2253G>T	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412092	0.42817	.	.	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.18960	2.18;2.32	5.0	-2.36	0.06663	.	1.028670	0.07793	N	0.955172	T	0.17492	0.0420	N	0.22421	0.69	0.09310	N	1	P;P	0.46784	0.884;0.884	P;P	0.46076	0.503;0.503	T	0.36065	-0.9763	10	0.87932	D	0	-0.1897	9.8626	0.41123	0.6123:0.0:0.3877:0.0	.	751;614	Q76N32;Q76N32-2	CEP68_HUMAN;.	D	751;614	ENSP00000367229:E751D;ENSP00000260569:E614D	ENSP00000260569:E614D	E	+	3	2	CEP68	65163322	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.162000	0.10012	-0.367000	0.08052	0.561000	0.74099	GAG		0.512	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		32	73	1	0	9.78485e-24	1	1.2965e-23	32	73				
TRRAP	8295	broad.mit.edu	37	7	98527692	98527692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98527692G>T	ENST00000359863.4	+	24	3465	c.3256G>T	c.(3256-3258)Gga>Tga	p.G1086*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.G1085*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.G1086*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1086					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGCTCGAAAGGAATGGATCC	0.478																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3256-3258)Gga>Tga		transformation/transcription domain-associated protein							132.0	124.0	126.0					7																	98527692		2203	4300	6503	SO:0001587	stop_gained	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98527692G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3256G>T	7.37:g.98527692G>T	ENSP00000352925:p.Gly1086*					TRRAP_ENST00000355540.3_Nonsense_Mutation_p.G1086*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.G1085*	p.G1086*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		24	3465	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1086					A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	ENST00000359863.4	37	c.3256G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.829254|10.829254	0.99474|0.99474	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	.|T	.|0.65178	.|-0.14	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68714	.|0.3031	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60939	.|-0.7163	.|5	0.25106|0.19147	T|T	0.35|0.46	.|.	19.4787|19.4787	0.95000|0.95000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	1086;1086;1084|800	.|ENSP00000394645:K800N	ENSP00000347733:G1086X|ENSP00000394645:K800N	G|K	+|+	1|3	0|2	TRRAP|TRRAP	98365628|98365628	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.856000|0.856000	0.48823|0.48823	9.286000|9.286000	0.95898|0.95898	2.681000|2.681000	0.91329|0.91329	0.591000|0.591000	0.81541|0.81541	GGA|AAG		0.478	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		6	140	1	0	1.26484e-09	1	1.54084e-09	6	140				
BPIFA2	140683	broad.mit.edu	37	20	31757100	31757100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31757100C>T	ENST00000253362.2	+	2	295	c.149C>T	c.(148-150)aCt>aTt	p.T50I	BPIFA2_ENST00000354932.5_Missense_Mutation_p.T50I			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	50						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GTTGACAATACTCTTAAAGGT	0.458																																						ENST00000253362.2																			0											c.(148-150)aCt>aTt		BPI fold containing family A, member 2							117.0	98.0	105.0					20																	31757100		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31757100C>T	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.149C>T	20.37:g.31757100C>T	ENSP00000253362:p.Thr50Ile					BPIFA2_ENST00000354932.5_Missense_Mutation_p.T50I	p.T50I			Q96DR5	SPLC2_HUMAN			2	295	+			50					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.149C>T	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531246	0.13127	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.12569	2.67;2.67	3.25	1.29	0.21616	.	1.146690	0.06582	N	0.750467	T	0.13114	0.0318	L	0.56769	1.78	0.09310	N	1	P	0.38827	0.649	B	0.34779	0.189	T	0.29701	-1.0003	10	0.35671	T	0.21	-7.5475	4.6036	0.12366	0.0:0.6455:0.2277:0.1268	.	50	Q96DR5	BPIA2_HUMAN	I	50	ENSP00000253362:T50I;ENSP00000347012:T50I	ENSP00000253362:T50I	T	+	2	0	BPIFA2	31220761	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.034000	0.12225	0.400000	0.25396	-0.136000	0.14681	ACT		0.458	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		31	53	0	0	0	1	0	31	53				
DTX4	23220	broad.mit.edu	37	11	58962747	58962747	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58962747G>T	ENST00000227451.3	+	7	1545	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W	DTX4_ENST00000532982.1_Missense_Mutation_p.G375W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	481					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCAACCTCCAGGGAAGATGGA	0.572																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1441-1443)Ggg>Tgg		deltex homolog 4 (Drosophila)							73.0	79.0	77.0					11																	58962747		2049	4235	6284	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58962747G>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1441G>T	11.37:g.58962747G>T	ENSP00000227451:p.Gly481Trp					DTX4_ENST00000532982.1_Missense_Mutation_p.G375W	p.G481W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			7	1545	+		all_epithelial(135;0.125)	481					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1441G>T	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657446	0.88154	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.25414	1.8;1.8	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.64294	0.2585	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75560	-0.3275	10	0.87932	D	0	.	17.8469	0.88732	0.0:0.0:1.0:0.0	.	481	Q9Y2E6	DTX4_HUMAN	W	375;481	ENSP00000434055:G375W;ENSP00000227451:G481W	ENSP00000227451:G481W	G	+	1	0	DTX4	58719323	1.000000	0.71417	0.954000	0.39281	0.978000	0.69477	9.835000	0.99442	2.506000	0.84524	0.655000	0.94253	GGG		0.572	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		10	58	1	0	2.17888e-05	1	2.45068e-05	10	58				
VRTN	55237	broad.mit.edu	37	14	74823874	74823874	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74823874C>T	ENST00000256362.4	+	2	629	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	130					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAAAGTGATGCTGCAGGCCGT	0.632																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(388-390)Ctg>Ttg		vertebrae development associated							71.0	66.0	67.0					14																	74823874		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823874C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.388C>T	14.37:g.74823874C>T							p.L130L	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	629	+			130					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.388C>T	CCDS9830.1																																																																																				0.632	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		10	19	0	0	0	1	0	10	19				
MTOR	2475	broad.mit.edu	37	1	11205086	11205086	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11205086C>A	ENST00000361445.4	-	33	4779	c.4703G>T	c.(4702-4704)aGg>aTg	p.R1568M	MTOR_ENST00000495435.1_5'Flank|MTOR-AS1_ENST00000420480.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1568	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAGCAGGTCCCTGGCCTTGTC	0.488																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4702-4704)aGg>aTg		mechanistic target of rapamycin (serine/threonine kinase)							112.0	101.0	105.0					1																	11205086		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11205086C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4703G>T	1.37:g.11205086C>A	ENSP00000354558:p.Arg1568Met					MTOR-AS1_ENST00000420480.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	p.R1568M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			33	4779	-			1568			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4703G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917766	0.92249	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.74947	-0.89	5.28	5.28	0.74379	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93785	0.7087	10	0.87932	D	0	-15.1095	18.9193	0.92519	0.0:1.0:0.0:0.0	.	1568	P42345	MTOR_HUMAN	M	1568	ENSP00000354558:R1568M	ENSP00000354558:R1568M	R	-	2	0	MTOR	11127673	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.456000	0.80751	2.477000	0.83638	0.655000	0.94253	AGG		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		28	58	1	0	6.38683e-12	1	7.9998e-12	28	58				
NEMF	9147	broad.mit.edu	37	14	50307487	50307487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50307487C>T	ENST00000298310.5	-	5	904	c.455G>A	c.(454-456)cGc>cAc	p.R152H	RNU6-539P_ENST00000516665.1_RNA|NEMF_ENST00000546046.1_Missense_Mutation_p.R152H|NEMF_ENST00000545773.1_Missense_Mutation_p.R110H|AL627171.1_ENST00000358799.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor	152					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AAGTGGATAGCGTTCACGAAC	0.348																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(454-456)cGc>cAc		nuclear export mediator factor							107.0	98.0	101.0					14																	50307487		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50307487C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.455G>A	14.37:g.50307487C>T	ENSP00000298310:p.Arg152His					NEMF_ENST00000545773.1_Missense_Mutation_p.R110H|AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000546046.1_Missense_Mutation_p.R152H	p.R152H			O60524	NEMF_HUMAN			5	904	-			152					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.455G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724097	0.48728	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.49	1.06	0.20224	Fibronectin-binding A, N-terminal (1);	0.245587	0.42294	N	0.000729	T	0.32133	0.0819	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.20780	0.026;0.048;0.048;0.033	B;B;B;B	0.19148	0.013;0.021;0.021;0.024	T	0.12760	-1.0535	10	0.48119	T	0.1	1.199	10.032	0.42107	0.0:0.5533:0.0:0.4467	.	152;152;110;152	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	H	152;110;152;110;110	ENSP00000298310:R152H;ENSP00000438309:R110H;ENSP00000441016:R152H;ENSP00000452540:R110H	ENSP00000298310:R152H	R	-	2	0	NEMF	49377237	0.665000	0.27466	1.000000	0.80357	0.994000	0.84299	0.985000	0.29578	0.287000	0.22375	0.591000	0.81541	CGC		0.348	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		4	44	0	0	0	1	0	4	44				
SIK1	150094	broad.mit.edu	37	21	44839825	44839825	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44839825G>A	ENST00000270162.6	-	9	1165	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	345					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TACTCCTTGAGCCGCTCAAGG	0.612																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(1033-1035)Ctc>Ttc		salt-inducible kinase 1							46.0	44.0	45.0					21																	44839825		2200	4297	6497	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44839825G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1033C>T	21.37:g.44839825G>A	ENSP00000270162:p.Leu345Phe						p.L345F	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			9	1165	-			345					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.1033C>T	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131056	0.56828	.	.	ENSG00000142178	ENST00000270162	T	0.74632	-0.86	5.16	4.27	0.50696	.	0.070349	0.64402	D	0.000020	D	0.85754	0.5770	M	0.84326	2.69	0.45403	D	0.998389	D	0.71674	0.998	D	0.66847	0.947	D	0.87724	0.2575	10	0.72032	D	0.01	.	14.0194	0.64545	0.0738:0.0:0.9262:0.0	.	345	P57059	SIK1_HUMAN	F	345	ENSP00000270162:L345F	ENSP00000270162:L345F	L	-	1	0	SIK1	43664253	1.000000	0.71417	0.874000	0.34290	0.196000	0.23810	4.037000	0.57311	1.159000	0.42565	0.561000	0.74099	CTC		0.612	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		4	4	0	0	0	1	0	4	4				
KIAA1210	57481	broad.mit.edu	37	X	118227693	118227693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118227693C>T	ENST00000402510.2	-	10	1419	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	474										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTTTTCTTCTTCAGAAACC	0.443																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(1420-1422)Gaa>Aaa		KIAA1210							137.0	111.0	119.0					X																	118227693		1876	4099	5975	SO:0001583	missense	57481							g.chrX:118227693C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1420G>A	X.37:g.118227693C>T	ENSP00000384670:p.Glu474Lys						p.E474K	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			10	1419	-			474					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1420G>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055859	0.19907	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.08370	3.1	4.19	3.31	0.37934	.	.	.	.	.	T	0.05914	0.0154	N	0.03608	-0.345	0.09310	N	1	D	0.67145	0.996	P	0.50049	0.629	T	0.39354	-0.9618	9	0.34782	T	0.22	.	9.5452	0.39277	0.0:0.7889:0.2111:0.0	.	474	Q9ULL0	K1210_HUMAN	K	474;274	ENSP00000384670:E474K	ENSP00000396164:E274K	E	-	1	0	RP13-347D8.5;RP13-347D8.6	118111721	0.409000	0.25368	0.013000	0.15412	0.026000	0.11368	0.875000	0.28079	0.840000	0.34995	0.590000	0.80494	GAA		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		13	22	0	0	0	1	0	13	22				
ASNSD1	54529	broad.mit.edu	37	2	190531984	190531984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190531984A>G	ENST00000260952.4	+	4	1539	c.1126A>G	c.(1126-1128)Aat>Gat	p.N376D	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	376	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAACAGAAAAATAAATGTGA	0.368																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1126-1128)Aat>Gat		asparagine synthetase domain containing 1							50.0	50.0	50.0					2																	190531984		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531984A>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1126A>G	2.37:g.190531984A>G	ENSP00000260952:p.Asn376Asp					ASNSD1_ENST00000607062.1_Intron	p.N376D	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1539	+			376			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.1126A>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	3.588	-0.084297	0.07097	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.29655	1.57;1.56	5.65	3.32	0.38043	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.833265	0.10969	N	0.614080	T	0.19725	0.0474	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.31420	-0.9944	10	0.13853	T	0.58	-7.1361	9.5832	0.39501	0.7983:0.0:0.2017:0.0	.	376	Q9NWL6	ASND1_HUMAN	D	376	ENSP00000260952:N376D;ENSP00000406790:N376D	ENSP00000260952:N376D	N	+	1	0	ASNSD1	190240229	0.756000	0.28383	0.001000	0.08648	0.306000	0.27790	0.886000	0.28241	0.581000	0.29539	0.533000	0.62120	AAT		0.368	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		18	35	0	0	0	1	0	18	35				
ZNF211	10520	broad.mit.edu	37	19	58152302	58152302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58152302C>A	ENST00000347302.3	+	3	627	c.448C>A	c.(448-450)Ctt>Att	p.L150I	ZNF211_ENST00000254182.7_Missense_Mutation_p.L141I|ZNF211_ENST00000299871.5_Missense_Mutation_p.L215I|ZNF211_ENST00000544273.1_Missense_Mutation_p.L162I|ZNF211_ENST00000541801.1_Missense_Mutation_p.L141I|ZNF211_ENST00000240731.4_Missense_Mutation_p.L163I|ZNF211_ENST00000420680.1_Missense_Mutation_p.L154I|ZNF211_ENST00000391703.3_Missense_Mutation_p.L89I	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGTGCAAATCTTCAACAGCA	0.458																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(484-486)Ctt>Att		zinc finger protein 211							117.0	99.0	105.0					19																	58152302		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152302C>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.448C>A	19.37:g.58152302C>A	ENSP00000339562:p.Leu150Ile					ZNF211_ENST00000420680.1_Missense_Mutation_p.L154I|ZNF211_ENST00000541801.1_Missense_Mutation_p.L141I|ZNF211_ENST00000347302.3_Missense_Mutation_p.L150I|ZNF211_ENST00000299871.5_Missense_Mutation_p.L215I|ZNF211_ENST00000254182.7_Missense_Mutation_p.L141I|ZNF211_ENST00000240731.4_Missense_Mutation_p.L163I|ZNF211_ENST00000391703.3_Missense_Mutation_p.L89I	p.L162I			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	811	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	150					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.484C>A	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.40|13.40	2.226785|2.226785	0.39399|0.39399	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69|.	3.8|3.8	0.355|0.355	0.16069|0.16069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.46870|0.46870	0.1415|0.1415	M|M	0.79343|0.79343	2.45|2.45	0.09310|0.09310	N|N	1|1	B;B;D;P;B;B|.	0.55605|.	0.073;0.073;0.972;0.886;0.044;0.044|.	B;B;P;B;B;B|.	0.44561|.	0.064;0.064;0.453;0.445;0.029;0.029|.	T|T	0.42413|0.42413	-0.9453|-0.9453	9|5	0.66056|.	D|.	0.02|.	.|.	4.1685|4.1685	0.10318|0.10318	0.1644:0.5507:0.0:0.2849|0.1644:0.5507:0.0:0.2849	.|.	154;162;215;141;150;163|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	I|Y	154;150;141;89;141;215;162;163|153	ENSP00000399193:L154I;ENSP00000339562:L150I;ENSP00000254182:L141I;ENSP00000375584:L89I;ENSP00000442601:L141I;ENSP00000299871:L215I;ENSP00000441386:L162I;ENSP00000240731:L163I|.	ENSP00000240731:L163I|.	L|S	+|+	1|2	0|0	ZNF211|ZNF211	62844114|62844114	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.021000|0.021000	0.10359|0.10359	-0.276000|-0.276000	0.08514|0.08514	0.068000|0.068000	0.16574|0.16574	-0.282000|-0.282000	0.10007|0.10007	CTT|TCT		0.458	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			5	53	1	0	0.248553	1	0.25002	5	53				
CSMD2	114784	broad.mit.edu	37	1	34209090	34209090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34209090C>T	ENST00000373381.4	-	14	2140	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	615	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTGGATGCGGCTCTCAGG	0.612																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1963-1965)cGc>cAc		CUB and Sushi multiple domains 2							80.0	81.0	81.0					1																	34209090		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209090C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1964G>A	1.37:g.34209090C>T	ENSP00000362479:p.Arg655His						p.R655H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			14	2140	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	615			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1964G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.321612	0.95682	.	.	ENSG00000121904	ENST00000373381	T	0.18502	2.21	5.58	5.58	0.84498	CUB (5);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.16217	-1.0410	10	0.45353	T	0.12	.	18.9334	0.92576	0.0:1.0:0.0:0.0	.	615;655	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	655	ENSP00000362479:R655H	ENSP00000241312:R615H	R	-	2	0	CSMD2	33981677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.782000	0.95742	0.655000	0.94253	CGC		0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		28	26	0	0	0	1	0	28	26				
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3328-3330)gCc>gTc		cyclin G associated kinase							50.0	58.0	56.0					4																	845717		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845717G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3329C>T	4.37:g.845717G>A	ENSP00000314499:p.Ala1110Val					GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	p.A1110V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3439	-			1110					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.3329C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052048|3.052048	0.55218|0.55218	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78816|.	-0.75;-1.21|.	4.69|4.69	0.642|0.642	0.17765|0.17765	.|.	0.900083|.	0.09447|.	N|.	0.800923|.	T|T	0.32585|0.32585	0.0834|0.0834	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23442|.	0.085;0.031;0.085;0.038|.	B;B;B;B|.	0.21151|.	0.033;0.006;0.033;0.022|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.51188|.	T|.	0.08|.	-19.6619|-19.6619	4.9436|4.9436	0.13978|0.13978	0.1951:0.3334:0.4715:0.0|0.1951:0.3334:0.4715:0.0	.|.	1012;1031;1110;995|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	V|S	386;1110;1031|266	ENSP00000314499:A1110V;ENSP00000421361:A1031V|.	ENSP00000314499:A1110V|.	A|P	-|-	2|1	0|0	GAK|GAK	835717|835717	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.575000|0.575000	0.23729|0.23729	0.179000|0.179000	0.19938|0.19938	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.642	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		9	17	0	0	0	1	0	9	17				
OR5K1	26339	broad.mit.edu	37	3	98188702	98188702	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188702C>A	ENST00000332650.5	+	1	379	c.282C>A	c.(280-282)ctC>ctA	p.L94L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGATTTCCCTCTATGAATGTG	0.433																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(280-282)ctC>ctA		olfactory receptor, family 5, subfamily K, member 1							152.0	161.0	158.0					3																	98188702		2203	4299	6502	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188702C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.282C>A	3.37:g.98188702C>A							p.L94L	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	379	+			94					B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.282C>A	CCDS43115.1																																																																																				0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			17	192	1	0	3.45872e-05	1	3.88335e-05	17	192				
PSKH1	5681	broad.mit.edu	37	16	67943504	67943504	+	Silent	SNP	C	C	T	rs537111449	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67943504C>T	ENST00000291041.5	+	2	1022	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GGGCGCTGGGCGTCATTGCCT	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		21819	0.002		0.0	False		,,,				2504	0.0					ENST00000291041.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12						c.(850-852)ggC>ggT		protein serine kinase H1							98.0	83.0	88.0					16																	67943504		2198	4300	6498	SO:0001819	synonymous_variant	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67943504C>T	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.852C>T	16.37:g.67943504C>T							p.G284G	NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	1022	+		Ovarian(137;0.192)	284			Protein kinase.		Q9NY19	Silent	SNP	ENST00000291041.5	37	c.852C>T	CCDS10851.1																																																																																				0.567	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		26	24	0	0	0	1	0	26	24				
IGSF22	283284	broad.mit.edu	37	11	18736140	18736140	+	Silent	SNP	G	G	A	rs367640432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18736140G>A	ENST00000513874.1	-	12	1702	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	521										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGTGCACGTCGGACATCCCGC	0.602																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1561-1563)tcC>tcT		immunoglobulin superfamily, member 22		G		0,4234		0,0,2117	83.0	88.0	86.0		1563	-5.7	0.0	11		86	1,8465		0,1,4232	no	coding-synonymous	IGSF22	NM_173588.3		0,1,6349	AA,AG,GG		0.0118,0.0,0.0079		521/1327	18736140	1,12699	2117	4233	6350	SO:0001819	synonymous_variant	283284							g.chr11:18736140G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1563C>T	11.37:g.18736140G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.S521S	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			12	1702	-			521					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.1563C>T	CCDS41625.2																																																																																				0.602	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		6	57	0	0	0	1	0	6	57				
KCNK7	10089	broad.mit.edu	37	11	65361297	65361297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65361297A>G	ENST00000340313.4	-	2	591	c.368T>C	c.(367-369)aTg>aCg	p.M123T	KCNK7_ENST00000394216.2_Missense_Mutation_p.M123T|AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000342202.4_Missense_Mutation_p.M123T|KCNK7_ENST00000394217.2_Missense_Mutation_p.M123T	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	123					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						TGCATAGACCATGCAGAAGGC	0.627											OREG0021083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394216.2																			0				endometrium(1)|liver(1)|lung(1)	3						c.(367-369)aTg>aCg		potassium channel, subfamily K, member 7							29.0	32.0	31.0					11																	65361297		2183	4274	6457	SO:0001583	missense	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65361297A>G	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.368T>C	11.37:g.65361297A>G	ENSP00000344820:p.Met123Thr		OREG0021083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	KCNK7_ENST00000394217.2_Missense_Mutation_p.M123T|KCNK7_ENST00000342202.4_Missense_Mutation_p.M123T|KCNK7_ENST00000340313.4_Missense_Mutation_p.M123T	p.M123T	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN			2	591	-			123					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.368T>C	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453894	0.63290	.	.	ENSG00000173338	ENST00000342202;ENST00000394217;ENST00000394216;ENST00000340313	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.45	5.45	0.79879	Ion transport 2 (1);	0.382801	0.21871	N	0.067887	T	0.33352	0.0860	L	0.58354	1.805	0.35708	D	0.816124	B;B;B	0.22800	0.075;0.054;0.075	B;B;B	0.22386	0.023;0.039;0.023	T	0.41822	-0.9487	10	0.87932	D	0	.	13.7775	0.63064	1.0:0.0:0.0:0.0	.	123;123;123	Q9Y2U2-3;Q9Y2U2;Q9Y2U2-2	.;KCNK7_HUMAN;.	T	123	ENSP00000343923:M123T;ENSP00000377765:M123T;ENSP00000377764:M123T;ENSP00000344820:M123T	ENSP00000344820:M123T	M	-	2	0	KCNK7	65117873	1.000000	0.71417	0.962000	0.40283	0.916000	0.54674	8.799000	0.91895	2.211000	0.71520	0.459000	0.35465	ATG		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		6	61	0	0	0	1	0	6	61				
MCF2L2	23101	broad.mit.edu	37	3	182910809	182910809	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182910809G>T	ENST00000328913.3	-	27	3291	c.2994C>A	c.(2992-2994)gcC>gcA	p.A998A	MCF2L2_ENST00000473233.1_Silent_p.A998A|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	998							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGTGCTGGAGGCCGGGTCTT	0.493																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2992-2994)gcC>gcA		MCF.2 cell line derived transforming sequence-like 2							191.0	167.0	175.0					3																	182910809		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182910809G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2994C>A	3.37:g.182910809G>T						MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Silent_p.A998A	p.A998A	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		27	3291	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		998					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.2994C>A	CCDS3243.1																																																																																				0.493	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		10	89	1	0	0.00010058	1	0.000111121	10	89				
LIN28A	79727	broad.mit.edu	37	1	26751871	26751871	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26751871G>T	ENST00000326279.6	+	3	420	c.306G>T	c.(304-306)aaG>aaT	p.K102N	LIN28A_ENST00000254231.4_Missense_Mutation_p.K102N	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	102	CSD.				germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGTCAGCCAAGGGTCTGGAAT	0.517																																						ENST00000326279.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(304-306)aaG>aaT		lin-28 homolog A (C. elegans)							130.0	125.0	127.0					1																	26751871		2203	4300	6503	SO:0001583	missense	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26751871G>T	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.306G>T	1.37:g.26751871G>T	ENSP00000363314:p.Lys102Asn					LIN28A_ENST00000254231.4_Missense_Mutation_p.K102N	p.K102N	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN			3	420	+			102			CSD.			Missense_Mutation	SNP	ENST00000326279.6	37	c.306G>T	CCDS280.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554319	0.65425	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.54071	0.59;0.59	4.99	2.13	0.27403	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.121996	0.52532	D	0.000070	T	0.66416	0.2787	M	0.72118	2.19	0.32859	D	0.50771	D	0.76494	0.999	D	0.87578	0.998	T	0.71781	-0.4489	10	0.62326	D	0.03	.	8.2052	0.31452	0.3468:0.0:0.6532:0.0	.	102	Q9H9Z2	LN28A_HUMAN	N	102	ENSP00000363314:K102N;ENSP00000254231:K102N	ENSP00000254231:K102N	K	+	3	2	LIN28A	26624458	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.719000	0.38011	0.315000	0.23110	0.585000	0.79938	AAG		0.517	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674		9	105	1	0	4.68919e-08	1	5.58064e-08	9	105				
ESPL1	9700	broad.mit.edu	37	12	53682456	53682456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53682456C>T	ENST00000257934.4	+	20	4772	c.4681C>T	c.(4681-4683)Cgg>Tgg	p.R1561W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1561W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1561				R -> Q (in Ref. 1; AAR18247 and 2; BAA11482). {ECO:0000305}.	apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCTCGGCTCCGGCTCCCCTC	0.587																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(4681-4683)Cgg>Tgg		extra spindle pole bodies homolog 1 (S. cerevisiae)							48.0	48.0	48.0					12																	53682456		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53682456C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4681C>T	12.37:g.53682456C>T	ENSP00000257934:p.Arg1561Trp					ESPL1_ENST00000552462.1_Missense_Mutation_p.R1561W	p.R1561W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			20	4772	+			1561	R -> Q (in Ref. 1; AAR18247 and 2; BAA11482).					Missense_Mutation	SNP	ENST00000257934.4	37	c.4681C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	c	13.25	2.180850	0.38511	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12879	2.64;2.64	5.34	2.33	0.28932	.	1.494160	0.03591	N	0.231873	T	0.15565	0.0375	M	0.63428	1.95	0.09310	N	1	P	0.49635	0.926	B	0.36504	0.226	T	0.34179	-0.9839	10	0.66056	D	0.02	.	6.6053	0.22721	0.3134:0.5991:0.0:0.0875	.	1561	Q14674	ESPL1_HUMAN	W	1561;1236;1561	ENSP00000257934:R1561W;ENSP00000449831:R1561W	ENSP00000257934:R1561W	R	+	1	2	ESPL1	51968723	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.547000	0.23299	0.732000	0.32470	0.650000	0.86243	CGG		0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		15	37	0	0	0	1	0	15	37				
MTCL1	23255	broad.mit.edu	37	18	8826086	8826086	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8826086C>T	ENST00000306329.11	+	13	5535	c.5535C>T	c.(5533-5535)ctC>ctT	p.L1845L	SOGA2_ENST00000400050.3_Silent_p.L1485L|SOGA2_ENST00000517570.1_Silent_p.L1485L|SOGA2_ENST00000518815.1_Silent_p.L851L|SOGA2_ENST00000306285.7_Silent_p.L851L|SOGA2_ENST00000359865.3_Silent_p.L1526L																							GCTACACGCTCACTGAGAACG	0.632																																						ENST00000359865.3																			0											c.(4576-4578)ctC>ctT		SOGA family member 2							33.0	33.0	33.0					18																	8826086		2202	4300	6502	SO:0001819	synonymous_variant	23255							g.chr18:8826086C>T																												ENST00000306329.11:c.5535C>T	18.37:g.8826086C>T						SOGA2_ENST00000518815.1_Silent_p.L851L|SOGA2_ENST00000400050.3_Silent_p.L1485L|SOGA2_ENST00000306329.11_Silent_p.L1845L|SOGA2_ENST00000517570.1_Silent_p.L1485L|SOGA2_ENST00000306285.7_Silent_p.L851L	p.L1526L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	4720	+			1836						Silent	SNP	ENST00000306329.11	37	c.4578C>T																																																																																					0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			3	5	0	0	0	1	0	3	5				
ZMIZ1	57178	broad.mit.edu	37	10	81060680	81060680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81060680C>T	ENST00000334512.5	+	17	2572	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	667					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATCCAGATCACCGTCACGGCC	0.662																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1999-2001)aCc>aTc		zinc finger, MIZ-type containing 1							93.0	90.0	91.0					10																	81060680		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81060680C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2000C>T	10.37:g.81060680C>T	ENSP00000334474:p.Thr667Ile						p.T667I	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		17	2572	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		667					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2000C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120459	0.77323	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.38560	1.13	5.32	5.32	0.75619	.	0.000000	0.42682	D	0.000665	T	0.69958	0.3169	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75499	-0.3296	10	0.87932	D	0	-20.485	18.9883	0.92780	0.0:1.0:0.0:0.0	.	667	Q9ULJ6	ZMIZ1_HUMAN	I	667;597;572	ENSP00000334474:T667I	ENSP00000334474:T667I	T	+	2	0	ZMIZ1	80730686	1.000000	0.71417	0.999000	0.59377	0.470000	0.32858	7.447000	0.80620	2.477000	0.83638	0.591000	0.81541	ACC		0.662	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		6	17	0	0	0	1	0	6	17				
FRMPD3	84443	broad.mit.edu	37	X	106845450	106845450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106845450G>A	ENST00000276185.4	+	16	4280	c.4280G>A	c.(4279-4281)cGc>cAc	p.R1427H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1427						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTGATGCGCCGCTACAGTATC	0.627																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4279-4281)cGc>cAc		FERM and PDZ domain containing 3							73.0	70.0	71.0					X																	106845450		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106845450G>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4280G>A	X.37:g.106845450G>A	ENSP00000276185:p.Arg1427His						p.R1427H			Q5JV73	FRPD3_HUMAN			16	4280	+			1427					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.4280G>A		.	.	.	.	.	.	.	.	.	.	g	11.49	1.655327	0.29425	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.22336	1.96;1.96	3.84	2.96	0.34315	.	0.166516	0.41001	N	0.000962	T	0.14657	0.0354	N	0.24115	0.695	0.22710	N	0.998826	.	.	.	.	.	.	T	0.12837	-1.0532	8	0.41790	T	0.15	.	6.3865	0.21563	0.2374:0.0:0.7626:0.0	.	.	.	.	H	1427;1375	ENSP00000276185:R1427H;ENSP00000398668:R1375H	ENSP00000276185:R1427H	R	+	2	0	FRMPD3	106732106	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.326000	0.59241	0.636000	0.30508	0.287000	0.19450	CGC		0.627	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		29	32	0	0	0	1	0	29	32				
UHRF1BP1L	23074	broad.mit.edu	37	12	100433472	100433472	+	Missense_Mutation	SNP	G	G	A	rs142553294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100433472G>A	ENST00000279907.7	-	20	4389	c.4177C>T	c.(4177-4179)Cgc>Tgc	p.R1393C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R1043C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1393										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGACACTGCGTTGTTTCTTC	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12316	0.0		0.0	False		,,,				2504	0.0					ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(4177-4179)Cgc>Tgc		UHRF1 binding protein 1-like		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	111.0	121.0		4177	-1.7	0.0	12	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UHRF1BP1L	NM_015054.1	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	1393/1465	100433472	2,13004	2203	4300	6503	SO:0001583	missense	23074							g.chr12:100433472G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4177C>T	12.37:g.100433472G>A	ENSP00000279907:p.Arg1393Cys					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R1043C	p.R1393C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			20	4389	-			1393					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.4177C>T	CCDS31882.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.400	0.841786	0.16963	2.27E-4	1.16E-4	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09817	2.94;2.94	5.08	-1.69	0.08186	.	1.242030	0.05270	N	0.517420	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	10	0.54805	T	0.06	6.8066	4.0013	0.09580	0.2218:0.0:0.4714:0.3068	.	1393	A0JNW5	UH1BL_HUMAN	C	1393;1043	ENSP00000279907:R1393C;ENSP00000444824:R1043C	ENSP00000279907:R1393C	R	-	1	0	UHRF1BP1L	98957603	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	-0.382000	0.07408	-0.199000	0.10317	-0.290000	0.09829	CGC		0.453	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		17	26	0	0	0	1	0	17	26				
GPR108	56927	broad.mit.edu	37	19	6733194	6733194	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6733194A>G	ENST00000264080.7	-	9	868	c.842T>C	c.(841-843)aTc>aCc	p.I281T	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Missense_Mutation_p.I39T	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	281						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTGCAGAGGATGGACACCCA	0.622																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(841-843)aTc>aCc		G protein-coupled receptor 108							58.0	68.0	64.0					19																	6733194		2133	4228	6361	SO:0001583	missense	56927					integral to membrane		g.chr19:6733194A>G		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.842T>C	19.37:g.6733194A>G	ENSP00000264080:p.Ile281Thr					GPR108_ENST00000430424.4_Missense_Mutation_p.I39T	p.I281T	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			9	868	-			281					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.842T>C	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429007	0.25726	.	.	ENSG00000125734	ENST00000264080;ENST00000430424	T	0.24908	1.83	3.88	2.84	0.33178	.	1.087690	0.07417	U	0.893286	T	0.27241	0.0668	L	0.46157	1.445	0.18873	N	0.999985	B	0.19073	0.033	B	0.29267	0.1	T	0.36890	-0.9729	10	0.59425	D	0.04	-29.3827	7.9936	0.30254	0.8175:0.0:0.0:0.1824	.	281	Q9NPR9	GP108_HUMAN	T	281;39	ENSP00000264080:I281T	ENSP00000264080:I281T	I	-	2	0	GPR108	6684194	0.034000	0.19679	0.281000	0.24762	0.872000	0.50106	2.877000	0.48506	0.631000	0.30412	0.459000	0.35465	ATC		0.622	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			28	27	0	0	0	1	0	28	27				
ARHGEF17	9828	broad.mit.edu	37	11	73021058	73021058	+	Missense_Mutation	SNP	C	C	T	rs575665175		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73021058C>T	ENST00000263674.3	+	1	1725	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	459					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGTCGACAGCGGAAGTCCCT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18247	0.0		0.0	False		,,,				2504	0.001					ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1375-1377)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 17							72.0	77.0	75.0					11																	73021058		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021058C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1375C>T	11.37:g.73021058C>T	ENSP00000263674:p.Arg459Trp						p.R459W	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1725	+			459					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1375C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646946	0.47258	.	.	ENSG00000110237	ENST00000263674	T	0.64618	-0.11	5.13	5.13	0.70059	.	0.293946	0.28088	N	0.016654	T	0.65365	0.2684	L	0.27053	0.805	0.31819	N	0.626178	D	0.89917	1.0	D	0.67548	0.952	T	0.70831	-0.4765	10	0.87932	D	0	-15.9157	10.7594	0.46256	0.0:0.9118:0.0:0.0882	.	459	Q96PE2	ARHGH_HUMAN	W	459	ENSP00000263674:R459W	ENSP00000263674:R459W	R	+	1	2	ARHGEF17	72698706	1.000000	0.71417	0.903000	0.35520	0.462000	0.32619	1.374000	0.34283	2.387000	0.81309	0.462000	0.41574	CGG		0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		5	44	0	0	0	1	0	5	44				
C2CD5	9847	broad.mit.edu	37	12	22680720	22680720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22680720G>T	ENST00000333957.4	-	4	539	c.284C>A	c.(283-285)cCt>cAt	p.P95H	C2CD5_ENST00000545552.1_Missense_Mutation_p.P95H|C2CD5_ENST00000446597.1_Missense_Mutation_p.P95H|C2CD5_ENST00000536386.1_Missense_Mutation_p.P95H|C2CD5_ENST00000542676.1_Missense_Mutation_p.P95H|C2CD5_ENST00000396028.2_Missense_Mutation_p.P95H|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000540703.1_5'Flank	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	95					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ATACAGTAAAGGATCAATATC	0.338																																						ENST00000333957.4																			0											c.(283-285)cCt>cAt		C2 calcium-dependent domain containing 5							175.0	158.0	164.0					12																	22680720		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22680720G>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.284C>A	12.37:g.22680720G>T	ENSP00000334229:p.Pro95His					C2CD5_ENST00000536386.1_Missense_Mutation_p.P95H|C2CD5_ENST00000396028.2_Missense_Mutation_p.P95H|C2CD5_ENST00000446597.1_Missense_Mutation_p.P95H|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.P95H|C2CD5_ENST00000545552.1_Missense_Mutation_p.P95H	p.P95H	NM_014802.1	NP_055617.1					4	539	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.284C>A	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883329	0.91740	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.994;0.994;0.995;1.0;0.994	T	0.72097	-0.4393	10	0.72032	D	0.01	-18.8771	19.5963	0.95541	0.0:0.0:1.0:0.0	.	95;95;95;95;95	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	H	95	ENSP00000334229:P95H;ENSP00000388756:P95H;ENSP00000439392:P95H;ENSP00000379345:P95H;ENSP00000441951:P95H;ENSP00000443204:P95H	ENSP00000334229:P95H	P	-	2	0	KIAA0528	22571987	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.852000	0.99516	2.648000	0.89879	0.561000	0.74099	CCT		0.338	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		7	81	1	0	9.70103e-10	1	1.18443e-09	7	81				
GRIN2D	2906	broad.mit.edu	37	19	48945130	48945130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48945130C>T	ENST00000263269.3	+	11	2445	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	786					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCTTCGCCACGACAGGCTAT	0.632																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2356-2358)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						57.0	45.0	49.0					19																	48945130		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945130C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2357C>T	19.37:g.48945130C>T	ENSP00000263269:p.Thr786Met						p.T786M	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2445	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	786						Missense_Mutation	SNP	ENST00000263269.3	37	c.2357C>T	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543343	0.86022	.	.	ENSG00000105464	ENST00000263269	T	0.27720	1.65	4.62	4.62	0.57501	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.33189	0.99	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.33803	-0.9854	10	0.46703	T	0.11	.	16.8162	0.85734	0.0:1.0:0.0:0.0	.	786	O15399	NMDE4_HUMAN	M	786	ENSP00000263269:T786M	ENSP00000263269:T786M	T	+	2	0	GRIN2D	53636942	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.644000	0.83416	2.587000	0.87381	0.456000	0.33151	ACG		0.632	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			6	20	0	0	0	1	0	6	20				
KPNA1	3836	broad.mit.edu	37	3	122168492	122168492	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122168492T>G	ENST00000344337.6	-	9	1022	c.846A>C	c.(844-846)tcA>tcC	p.S282S	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	282	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGGTCCATCTGATAGATATG	0.448																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(844-846)tcA>tcC		karyopherin alpha 1 (importin alpha 5)							83.0	77.0	79.0					3																	122168492		2203	4300	6503	SO:0001819	synonymous_variant	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122168492T>G	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.846A>C	3.37:g.122168492T>G						KPNA1_ENST00000466923.1_5'UTR	p.S282S	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	9	1022	-			282			Binding to RAG1.		D3DN93|Q6IBQ9|Q9BQ56	Silent	SNP	ENST00000344337.6	37	c.846A>C	CCDS3013.1																																																																																				0.448	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		3	66	0	0	0	1	0	3	66				
KIDINS220	57498	broad.mit.edu	37	2	8938388	8938388	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8938388C>A	ENST00000256707.3	-	10	1124	c.943G>T	c.(943-945)Gca>Tca	p.A315S	KIDINS220_ENST00000427284.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A273S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A316S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	315					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCATTGTTGCATTTCCTTTC	0.328																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(943-945)Gca>Tca		kinase D-interacting substrate, 220kDa							152.0	138.0	143.0					2																	8938388		1869	4101	5970	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8938388C>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.943G>T	2.37:g.8938388C>A	ENSP00000256707:p.Ala315Ser					KIDINS220_ENST00000473731.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A316S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A273S	p.A315S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			10	1124	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		315					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.943G>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643640	0.87859	.	.	ENSG00000134313	ENST00000496383;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.048193	0.85682	D	0.000000	T	0.67069	0.2854	N	0.20401	0.57	0.58432	D	0.999994	P;P;D;D	0.65815	0.872;0.866;0.985;0.995	P;P;P;D	0.70487	0.556;0.507;0.808;0.969	T	0.64097	-0.6487	10	0.25106	T	0.35	.	19.2047	0.93724	0.0:1.0:0.0:0.0	.	316;316;273;315	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	S	62;315;315;273;315;316;316	ENSP00000420364:A62S;ENSP00000256707:A315S;ENSP00000411849:A315S;ENSP00000414923:A273S;ENSP00000418974:A315S;ENSP00000419964:A316S;ENSP00000319947:A316S	ENSP00000256707:A315S	A	-	1	0	KIDINS220	8855839	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	7.440000	0.80464	2.554000	0.86153	0.585000	0.79938	GCA		0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		18	42	1	0	8.34094e-07	1	9.69005e-07	18	42				
PRKCA	5578	broad.mit.edu	37	17	64683231	64683231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64683231C>T	ENST00000413366.3	+	6	558	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	178	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.R178*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CTTCACAGTACGAGATGCAAA	0.388																																						ENST00000413366.3																			1	Substitution - Nonsense(1)	p.R178*(1)	breast(1)	breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(532-534)Cga>Tga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						93.0	98.0	96.0					17																	64683231		2203	4300	6503	SO:0001587	stop_gained	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64683231C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.532C>T	17.37:g.64683231C>T	ENSP00000408695:p.Arg178*						p.R178*	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		6	558	+			178			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Nonsense_Mutation	SNP	ENST00000413366.3	37	c.532C>T	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927591	0.92389	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	.	.	.	5.04	5.04	0.67666	.	0.365915	0.25244	N	0.032078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.9935	0.64380	0.2254:0.7746:0.0:0.0	.	.	.	.	X	178;85	.	ENSP00000284384:R85X	R	+	1	2	PRKCA	62113693	0.990000	0.36364	1.000000	0.80357	0.973000	0.67179	0.715000	0.25822	2.344000	0.79699	0.462000	0.41574	CGA		0.388	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			45	73	0	0	0	1	0	45	73				
KIDINS220	57498	broad.mit.edu	37	2	8957802	8957802	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8957802C>T	ENST00000256707.3	-	4	433	c.252G>A	c.(250-252)gtG>gtA	p.V84V	KIDINS220_ENST00000427284.1_Silent_p.V84V|KIDINS220_ENST00000418530.1_Silent_p.V42V|KIDINS220_ENST00000473731.1_Silent_p.V84V|KIDINS220_ENST00000319688.5_Silent_p.V84V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	84					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACGATGTGCACATGCCCTT	0.333																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(250-252)gtG>gtA		kinase D-interacting substrate, 220kDa							192.0	178.0	182.0					2																	8957802		1903	4099	6002	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8957802C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.252G>A	2.37:g.8957802C>T						KIDINS220_ENST00000473731.1_Silent_p.V84V|KIDINS220_ENST00000319688.5_Silent_p.V84V|KIDINS220_ENST00000427284.1_Silent_p.V84V|KIDINS220_ENST00000418530.1_Silent_p.V42V	p.V84V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			4	433	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		84					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.252G>A	CCDS42650.1																																																																																				0.333	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		35	59	0	0	0	1	0	35	59				
CLEC4G	339390	broad.mit.edu	37	19	7794735	7794735	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7794735A>G	ENST00000328853.5	-	8	783	c.715T>C	c.(715-717)Tgg>Cgg	p.W239R	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	239	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGTCCACCCACTGGTAGCCC	0.607																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.(715-717)Tgg>Cgg		C-type lectin domain family 4, member G							84.0	76.0	79.0					19																	7794735		2203	4300	6503	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794735A>G	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.715T>C	19.37:g.7794735A>G	ENSP00000327599:p.Trp239Arg						p.W239R	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN			8	783	-			239			C-type lectin.			Missense_Mutation	SNP	ENST00000328853.5	37	c.715T>C	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317390	0.23908	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.37235	1.21	5.53	3.41	0.39046	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35207	N	0.003365	T	0.53222	0.1783	H	0.96365	3.81	0.40155	D	0.976992	B	0.30281	0.275	B	0.35607	0.206	T	0.56661	-0.7942	10	0.72032	D	0.01	.	8.615	0.33826	0.7106:0.0:0.0:0.2894	.	239	Q6UXB4	CLC4G_HUMAN	R	239;123	ENSP00000327599:W239R	ENSP00000327599:W239R	W	-	1	0	CLEC4G	7700735	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.298000	0.43602	0.436000	0.26393	-1.729000	0.00701	TGG		0.607	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		22	56	0	0	0	1	0	22	56				
PRKDC	5591	broad.mit.edu	37	8	48771461	48771461	+	Silent	SNP	C	C	T	rs544510562		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48771461C>T	ENST00000314191.2	-	48	6347	c.6291G>A	c.(6289-6291)acG>acA	p.T2097T	PRKDC_ENST00000338368.3_Silent_p.T2097T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2098					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGACCAGGGCCGTCAGGGGCG	0.567								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6289-6291)acG>acA	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							61.0	65.0	64.0					8																	48771461		2144	4248	6392	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48771461C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6291G>A	8.37:g.48771461C>T						PRKDC_ENST00000338368.3_Silent_p.T2097T|PRKDC_ENST00000523565.1_5'UTR	p.T2097T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			48	6347	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2098					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.6291G>A																																																																																					0.567	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		35	35	0	0	0	1	0	35	35				
ZNF91	7644	broad.mit.edu	37	19	23544668	23544668	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23544668A>G	ENST00000300619.7	-	4	1318	c.1113T>C	c.(1111-1113)acT>acC	p.T371T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.T339T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	371					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTCAGTATGAGTTATCTTAT	0.348																																						ENST00000300619.7																			0											c.(1111-1113)acT>acC		zinc finger protein 91							43.0	45.0	44.0					19																	23544668		2004	4191	6195	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544668A>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1113T>C	19.37:g.23544668A>G						ZNF91_ENST00000397082.2_Silent_p.T339T|ZNF91_ENST00000599743.1_Intron	p.T371T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1318	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	371					A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.1113T>C	CCDS42541.1																																																																																				0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		9	60	0	0	0	1	0	9	60				
SMC1A	8243	broad.mit.edu	37	X	53423221	53423221	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53423221G>A	ENST00000322213.4	-	18	2915	c.2788C>T	c.(2788-2790)Cta>Tta	p.L930L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	930					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGGCCTGTAGCAAGTTGTGA	0.488													G|||	2	0.000529801	0.0	0.0	3775	,	,		16798	0.002		0.0	False		,,,				2504	0.0					ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(2788-2790)Cta>Tta		structural maintenance of chromosomes 1A							190.0	141.0	158.0					X																	53423221		2203	4300	6503	SO:0001819	synonymous_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53423221G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2788C>T	X.37:g.53423221G>A							p.L930L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			18	2915	-			930					O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	c.2788C>T	CCDS14352.1																																																																																				0.488	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		25	41	0	0	0	1	0	25	41				
SIAH1	6477	broad.mit.edu	37	16	48396193	48396193	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48396193T>C	ENST00000380006.2	-	1	1600	c.147A>G	c.(145-147)ttA>ttG	p.L49L	SIAH1_ENST00000356721.3_Silent_p.L80L|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Silent_p.L49L			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	49					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GAATGGGCGGTAACACATAGT	0.522																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(145-147)ttA>ttG		siah E3 ubiquitin protein ligase 1							106.0	94.0	98.0					16																	48396193		2200	4300	6500	SO:0001819	synonymous_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396193T>C	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.147A>G	16.37:g.48396193T>C						SIAH1_ENST00000394725.2_Silent_p.L49L|SIAH1_ENST00000356721.3_Silent_p.L80L	p.L49L			Q8IUQ4	SIAH1_HUMAN			1	1600	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	49					A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	c.147A>G	CCDS10735.1																																																																																				0.522	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			6	41	0	0	0	1	0	6	41				
DPH7	92715	broad.mit.edu	37	9	140472007	140472007	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140472007G>T	ENST00000277540.2	-	2	359	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	DPH7_ENST00000479650.1_Intron	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	68					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												AAACTGTACAGGAAGAGACGG	0.443																																						ENST00000277540.2																			0											c.(202-204)Ctg>Atg		diphthamide biosynthesis 7							135.0	121.0	125.0					9																	140472007		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140472007G>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.202C>A	9.37:g.140472007G>T	ENSP00000277540:p.Leu68Met					DPH7_ENST00000479650.1_Intron	p.L68M	NM_138778.2	NP_620133.1					2	359	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.202C>A	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206084	0.39003	.	.	ENSG00000148399	ENST00000277540	T	0.01613	4.73	5.11	3.27	0.37495	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000018	T	0.10078	0.0247	M	0.87180	2.865	0.38247	D	0.941499	D	0.89917	1.0	D	0.81914	0.995	T	0.01093	-1.1454	10	0.51188	T	0.08	.	9.1475	0.36942	0.1783:0.0:0.8217:0.0	.	68	Q9BTV6	WDR85_HUMAN	M	68	ENSP00000277540:L68M	ENSP00000277540:L68M	L	-	1	2	WDR85	139591828	1.000000	0.71417	0.993000	0.49108	0.007000	0.05969	1.741000	0.38238	0.554000	0.29061	0.455000	0.32223	CTG		0.443	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		7	64	1	0	0.27861	1	0.279982	7	64				
ANAPC5	51433	broad.mit.edu	37	12	121773353	121773353	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121773353G>A	ENST00000261819.3	-	7	1054	c.933C>T	c.(931-933)caC>caT	p.H311H	ANAPC5_ENST00000344395.4_Silent_p.H212H|ANAPC5_ENST00000541887.1_Silent_p.H311H|ANAPC5_ENST00000536366.1_Silent_p.H190H|ANAPC5_ENST00000441917.2_Silent_p.H212H|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	311					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAGCGGCAGTGCAGGGCGG	0.512																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(931-933)caC>caT		anaphase promoting complex subunit 5							135.0	129.0	131.0					12																	121773353		2203	4300	6503	SO:0001819	synonymous_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121773353G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.933C>T	12.37:g.121773353G>A						ANAPC5_ENST00000541887.1_Silent_p.H311H|ANAPC5_ENST00000536366.1_Silent_p.H190H|ANAPC5_ENST00000441917.2_Silent_p.H212H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Silent_p.H212H	p.H311H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			7	1054	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		311					E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	c.933C>T	CCDS9220.1																																																																																				0.512	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			8	145	0	0	0	1	0	8	145				
HNRNPM	4670	broad.mit.edu	37	19	8528381	8528381	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8528381G>A	ENST00000325495.4	+	4	378	c.337G>A	c.(337-339)Gga>Aga	p.G113R	HNRNPM_ENST00000348943.3_Splice_Site_p.G113R	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	113	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCTCCAAAGGGATGTGCGTA	0.368																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.e4-1		heterogeneous nuclear ribonucleoprotein M							219.0	192.0	201.0					19																	8528381		2203	4300	6503	SO:0001630	splice_region_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8528381G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.337-1G>A	19.37:g.8528381G>A						HNRNPM_ENST00000325495.4_Splice_Site_p.G113_splice	p.G113_splice	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			4	569	+			113			RRM 1.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Splice_Site	SNP	ENST00000325495.4	37	c.336_splice	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138707	0.77775	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	D;T	0.83250	-1.7;2.48	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.098721	0.64402	D	0.000001	D	0.93877	0.8041	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.991;0.992	D	0.94417	0.7637	9	.	.	.	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	113;113;113	P52272;P52272-2;B4DEG4	HNRPM_HUMAN;.;.	R	113;113;13	ENSP00000325376:G113R;ENSP00000325732:G113R	.	G	+	1	0	HNRNPM	8434381	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.188000	0.94921	2.941000	0.99782	0.655000	0.94253	GGA		0.368	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		Missense_Mutation	18	94	0	0	0	1	0	18	94				
LGMN	5641	broad.mit.edu	37	14	93185138	93185138	+	Missense_Mutation	SNP	C	C	T	rs202247404		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93185138C>T	ENST00000393218.2	-	4	527	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LGMN_ENST00000334869.4_Missense_Mutation_p.E64K|LGMN_ENST00000557434.1_Missense_Mutation_p.E64K|LGMN_ENST00000555699.1_Missense_Mutation_p.E64K	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	64					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACGATCTGTTCGTCAGGAATC	0.468																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(190-192)Gaa>Aaa		legumain							208.0	176.0	187.0					14																	93185138		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93185138C>T	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.190G>A	14.37:g.93185138C>T	ENSP00000376911:p.Glu64Lys					LGMN_ENST00000334869.4_Missense_Mutation_p.E64K|LGMN_ENST00000557434.1_Missense_Mutation_p.E64K|LGMN_ENST00000555699.1_Missense_Mutation_p.E64K	p.E64K	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	4	527	-		all_cancers(154;0.0706)	64					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.190G>A	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197584	0.58126	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802;ENST00000554397;ENST00000554919	T;T;T;T;T;T;T	0.53857	0.64;0.6;0.67;0.6;0.75;0.67;0.67	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.94063	3.49	0.80722	D	1	B;B;B	0.33857	0.287;0.429;0.287	B;B;B	0.42138	0.265;0.377;0.178	T	0.77606	-0.2525	10	0.66056	D	0.02	-51.6123	19.2007	0.93711	0.0:1.0:0.0:0.0	.	64;64;64	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	K	64;64;64;64;64;64;41;64;64;64;64	ENSP00000451861:E64K;ENSP00000334052:E64K;ENSP00000452572:E64K;ENSP00000376911:E64K;ENSP00000450854:E64K;ENSP00000450677:E64K;ENSP00000451916:E64K	ENSP00000262004:E64K	E	-	1	0	LGMN	92254891	1.000000	0.71417	0.964000	0.40570	0.124000	0.20399	5.698000	0.68302	2.712000	0.92718	0.650000	0.86243	GAA		0.468	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		23	46	0	0	0	1	0	23	46				
TUBA1A	7846	broad.mit.edu	37	12	49580426	49580426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49580426G>A	ENST00000295766.5	-	2	673	c.194C>T	c.(193-195)gCa>gTa	p.A65V	TUBA1A_ENST00000550767.1_Missense_Mutation_p.A30V|TUBA1A_ENST00000301071.7_Missense_Mutation_p.A65V|TUBA1A_ENST00000546918.1_Missense_Mutation_p.A65V	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	65					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TACAAACACTGCCCGGGGCAC	0.572																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(193-195)gCa>gTa		tubulin, alpha 1a							135.0	124.0	128.0					12																	49580426		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580426G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.194C>T	12.37:g.49580426G>A	ENSP00000439020:p.Ala65Val					TUBA1A_ENST00000546918.1_Missense_Mutation_p.A65V|TUBA1A_ENST00000550767.1_Missense_Mutation_p.A30V|TUBA1A_ENST00000295766.5_Missense_Mutation_p.A65V	p.A65V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			2	538	-			65					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.194C>T	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029764	0.54790	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000552250;ENST00000295766;ENST00000550767;ENST00000547939;ENST00000546918;ENST00000552924	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.36	5.36	0.76844	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	D	0.82296	0.5006	H	0.95437	3.67	0.58432	D	0.999999	B	0.16166	0.016	B	0.28709	0.093	T	0.82864	-0.0246	10	0.87932	D	0	.	18.2383	0.89957	0.0:0.0:1.0:0.0	.	65	Q71U36	TBA1A_HUMAN	V	65;65;65;65;30;30;65;30	ENSP00000301071:A65V;ENSP00000439020:A65V;ENSP00000446637:A30V;ENSP00000450268:A30V;ENSP00000446613:A65V;ENSP00000448725:A30V	ENSP00000439020:A65V	A	-	2	0	TUBA1A	47866693	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.630000	0.98420	2.674000	0.91012	0.655000	0.94253	GCA		0.572	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		10	79	0	0	0	1	0	10	79				
CLLU1	574028	broad.mit.edu	37	12	92818761	92818761	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:92818761T>G	ENST00000378485.1	+	1	1027	c.305T>G	c.(304-306)aTt>aGt	p.I102S	CLLU1OS_ENST00000538965.1_Intron|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000378487.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025233.1	NP_001020404.1	Q5K131	CLLU1_HUMAN	chronic lymphocytic leukemia up-regulated 1	102						cytoplasm (GO:0005737)				NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AAAAAACATATTATTTATTCT	0.313																																						ENST00000378485.1																			0				NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(304-306)aTt>aGt		chronic lymphocytic leukemia up-regulated 1							45.0	45.0	45.0					12																	92818761		1807	4056	5863	SO:0001583	missense	574028							g.chr12:92818761T>G	AJ845162		12q22	2012-04-19			ENSG00000257127	ENSG00000257127			29841	protein-coding gene	gene with protein product						19726446	Standard	NR_027932		Approved		uc001tcg.1	Q5K131	OTTHUMG00000170103	ENST00000378485.1:c.305T>G	12.37:g.92818761T>G	ENSP00000367746:p.Ile102Ser					RP11-693J15.4_ENST00000508671.1_RNA|CLLU1OS_ENST00000378487.2_Intron|CLLU1OS_ENST00000538965.1_Intron|CLLU1_ENST00000472839.2_Intron	p.I102S	NM_001025233.1	NP_001020404.1					1	1027	+									Missense_Mutation	SNP	ENST00000378485.1	37	c.305T>G		.	.	.	.	.	.	.	.	.	.	T	1.998	-0.430059	0.04701	.	.	ENSG00000257127	ENST00000378485	T	0.55052	0.54	1.11	1.11	0.20524	.	.	.	.	.	T	0.30510	0.0767	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.26360	-1.0105	7	0.87932	D	0	.	4.4247	0.11497	0.0:0.0:0.0:1.0	.	.	.	.	S	102	ENSP00000367746:I102S	ENSP00000367746:I102S	I	+	2	0	AC063949.1	91342892	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	1.158000	0.31737	0.741000	0.32674	0.523000	0.50628	ATT		0.313	CLLU1-003	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000366643.1	NM_001025233		5	40	0	0	0	1	0	5	40				
FITM1	161247	broad.mit.edu	37	14	24601453	24601453	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24601453C>G	ENST00000267426.5	+	2	589	c.300C>G	c.(298-300)tgC>tgG	p.C100W	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	100					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGGACATGCACTTTCTTAG	0.567																																						ENST00000267426.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(298-300)tgC>tgG		fat storage-inducing transmembrane protein 1							94.0	96.0	96.0					14																	24601453		2203	4300	6503	SO:0001583	missense	161247				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		g.chr14:24601453C>G		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.300C>G	14.37:g.24601453C>G	ENSP00000267426:p.Cys100Trp					FITM1_ENST00000559294.1_5'UTR	p.C100W	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN			2	589	+			100					Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.300C>G	CCDS9611.1	.	.	.	.	.	.	.	.	.	.	c	14.89	2.669434	0.47677	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.36	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.61491	-0.7052	9	0.62326	D	0.03	-18.1695	7.6765	0.28488	0.0:0.7405:0.0:0.2595	.	100	A5D6W6	FITM1_HUMAN	W	100	.	ENSP00000267426:C100W	C	+	3	2	FITM1	23671293	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	1.182000	0.32029	0.639000	0.30564	0.462000	0.41574	TGC		0.567	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		23	47	0	0	0	1	0	23	47				
HSP90AB1	3326	broad.mit.edu	37	6	44219266	44219266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44219266G>A	ENST00000371554.1	+	8	1449	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.C412Y|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.C412Y|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	412					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTAAGAAGTGCCTTGAGCTC	0.418																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1234-1236)tGc>tAc		heat shock protein 90kDa alpha (cytosolic), class B member 1							29.0	27.0	28.0					6																	44219266		2201	4297	6498	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44219266G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1235G>A	6.37:g.44219266G>A	ENSP00000360609:p.Cys412Tyr					HSP90AB1_ENST00000371646.5_Missense_Mutation_p.C412Y|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.C412Y	p.C412Y			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	1449	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		412					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.1235G>A	CCDS4909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.59|17.59	3.427913|3.427913	0.62733|0.62733	.|.	.|.	ENSG00000096384|ENSG00000096384	ENST00000435812;ENST00000415133;ENST00000428822|ENST00000371646;ENST00000353801;ENST00000371565;ENST00000371562;ENST00000371556;ENST00000371554	.|T;T;T	.|0.17213	.|2.29;2.29;2.29	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Ribosomal protein S5 domain 2-type fold (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.28566|0.28566	0.0707|0.0707	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49090	.|0.833;0.919;0.642	.|B;P;B	.|0.48982	.|0.309;0.597;0.235	T|T	0.36138|0.36138	-0.9760|-0.9760	5|10	.|0.87932	.|D	.|0	-13.5923|-13.5923	17.9239|17.9239	0.88976|0.88976	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|374;402;412	.|B4DMA2;B4DGL0;P08238	.|.;.;HS90B_HUMAN	T|Y	38|412;412;50;50;50;412	.|ENSP00000360709:C412Y;ENSP00000325875:C412Y;ENSP00000360609:C412Y	.|ENSP00000325875:C412Y	A|C	+|+	1|2	0|0	HSP90AB1|HSP90AB1	44327244|44327244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.972000|7.972000	0.88022|0.88022	2.251000|2.251000	0.74343|0.74343	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.418	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		13	14	0	0	0	1	0	13	14				
CUBN	8029	broad.mit.edu	37	10	17089500	17089500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17089500C>T	ENST00000377833.4	-	23	3307	c.3242G>A	c.(3241-3243)aGa>aAa	p.R1081K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1081	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCCAGTTCTCACTGTGAT	0.413																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3241-3243)aGa>aAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						106.0	95.0	99.0					10																	17089500		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17089500C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3242G>A	10.37:g.17089500C>T	ENSP00000367064:p.Arg1081Lys						p.R1081K	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			23	3307	-			1081			CUB 6.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3242G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.273622	0.01421	.	.	ENSG00000107611	ENST00000377833	T	0.34072	1.38	5.14	-1.39	0.08997	CUB (5);	0.727852	0.11701	N	0.537954	T	0.20495	0.0493	N	0.13198	0.31	0.31849	N	0.622517	B	0.09022	0.002	B	0.13407	0.009	T	0.23868	-1.0176	10	0.30854	T	0.27	.	11.6661	0.51374	0.0:0.5278:0.0:0.4722	.	1081	O60494	CUBN_HUMAN	K	1081	ENSP00000367064:R1081K	ENSP00000367064:R1081K	R	-	2	0	CUBN	17129506	0.141000	0.22595	0.053000	0.19242	0.326000	0.28443	0.389000	0.20751	-0.241000	0.09681	-0.471000	0.05019	AGA		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		25	31	0	0	0	1	0	25	31				
VPS13C	54832	broad.mit.edu	37	15	62199548	62199548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199548C>T	ENST00000261517.5	-	66	9093	c.9020G>A	c.(9019-9021)cGa>cAa	p.R3007Q	VPS13C_ENST00000395896.4_Missense_Mutation_p.R3007Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.R2964Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R2964Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGCAAAAAGTCGAGCCTGTCT	0.418																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9019-9021)cGa>cAa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							128.0	115.0	119.0					15																	62199548		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62199548C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9020G>A	15.37:g.62199548C>T	ENSP00000261517:p.Arg3007Gln					VPS13C_ENST00000395896.4_Missense_Mutation_p.R3007Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.R2964Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R2964Q	p.R3007Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			66	9093	-			3007						Missense_Mutation	SNP	ENST00000261517.5	37	c.9020G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784751	0.70222	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.30981	1.51;1.51;1.51	5.6	4.68	0.58851	Vacuolar protein sorting-associated protein (1);	0.066818	0.64402	D	0.000010	T	0.26011	0.0634	L	0.40543	1.245	0.43953	D	0.996626	B;B;B;B;B	0.29886	0.09;0.09;0.26;0.082;0.1	B;B;B;B;B	0.20184	0.025;0.025;0.025;0.017;0.028	T	0.04017	-1.0984	10	0.52906	T	0.07	.	14.7265	0.69349	0.0:0.9297:0.0:0.0703	.	3007;2964;3007;2964;3007	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	Q	2964;3007;3007;3007	ENSP00000249837:R2964Q;ENSP00000261517:R3007Q;ENSP00000379233:R3007Q	ENSP00000249837:R2964Q	R	-	2	0	VPS13C	59986840	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	2.733000	0.47360	1.367000	0.46095	0.585000	0.79938	CGA		0.418	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		29	45	0	0	0	1	0	29	45				
TNKS1BP1	85456	broad.mit.edu	37	11	57077271	57077271	+	Missense_Mutation	SNP	C	C	T	rs148640580	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077271C>T	ENST00000532437.1	-	5	3225	c.2914G>A	c.(2914-2916)Gcc>Acc	p.A972T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	972	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTGGGCGTCAAGGGTC	0.577																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2914-2916)Gcc>Acc		tankyrase 1 binding protein 1, 182kDa		C	THR/ALA	0,4402		0,0,2201	91.0	97.0	95.0		2914	-6.1	0.0	11	dbSNP_134	95	2,8590	2.2+/-6.3	0,2,4294	no	missense	TNKS1BP1	NM_033396.2	58	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	972/1730	57077271	2,12992	2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077271C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2914G>A	11.37:g.57077271C>T	ENSP00000437271:p.Ala972Thr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T	p.A972T			Q9C0C2	TB182_HUMAN			5	3225	-		all_epithelial(135;0.21)	972			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2914G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.795840	0.00617	0.0	2.33E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30714	1.52;1.52	4.4	-6.1	0.02138	.	1.350900	0.05222	N	0.508773	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20773	-1.0265	10	0.10902	T	0.67	0.0572	1.7502	0.02970	0.5177:0.1542:0.1268:0.2013	.	972	Q9C0C2	TB182_HUMAN	T	972	ENSP00000350990:A972T;ENSP00000437271:A972T	ENSP00000350990:A972T	A	-	1	0	TNKS1BP1	56833847	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.592000	0.05747	-1.428000	0.01989	-0.448000	0.05591	GCC		0.577	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		28	90	0	0	0	1	0	28	90				
KCNK7	10089	broad.mit.edu	37	11	65360609	65360609	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65360609G>A	ENST00000340313.4	-	3	1014	c.791C>T	c.(790-792)gCc>gTc	p.A264V	KCNK7_ENST00000394216.2_3'UTR|AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	264					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						CTTCCCCATGGCACGGACCTG	0.622																																						ENST00000340313.4																			0				endometrium(1)|liver(1)|lung(1)	3						c.(790-792)gCc>gTc		potassium channel, subfamily K, member 7							54.0	50.0	51.0					11																	65360609		2200	4296	6496	SO:0001583	missense	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360609G>A	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.791C>T	11.37:g.65360609G>A	ENSP00000344820:p.Ala264Val					KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	p.A264V	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN			3	1014	-			264					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.791C>T	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982468	0.74474	.	.	ENSG00000173338	ENST00000340313	T	0.10192	2.9	4.87	4.87	0.63330	.	0.000000	0.48286	D	0.000196	T	0.14527	0.0351	L	0.36672	1.1	0.09310	N	1	D	0.56287	0.975	P	0.49528	0.614	T	0.04752	-1.0929	10	0.62326	D	0.03	.	13.4907	0.61393	0.0:0.0:1.0:0.0	.	264	Q9Y2U2	KCNK7_HUMAN	V	264	ENSP00000344820:A264V	ENSP00000344820:A264V	A	-	2	0	KCNK7	65117185	0.966000	0.33281	0.717000	0.30585	0.233000	0.25261	3.705000	0.54823	2.256000	0.74724	0.561000	0.74099	GCC		0.622	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		14	9	0	0	0	1	0	14	9				
AREL1	9870	broad.mit.edu	37	14	75140811	75140811	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75140811A>T	ENST00000356357.4	-	9	1599	c.1084T>A	c.(1084-1086)Ttc>Atc	p.F362I	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	362					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCACTGAGAATTGCTGGAGG	0.403																																						ENST00000356357.4																			0											c.(1084-1086)Ttc>Atc		apoptosis resistant E3 ubiquitin protein ligase 1							69.0	67.0	67.0					14																	75140811		1874	4118	5992	SO:0001583	missense	9870							g.chr14:75140811A>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1084T>A	14.37:g.75140811A>T	ENSP00000348714:p.Phe362Ile					AREL1_ENST00000557401.1_5'UTR	p.F362I	NM_001039479.1	NP_001034568.1					9	1599	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1084T>A	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.82|14.82	2.649827|2.649827	0.47362|0.47362	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202|ENST00000490805	T;T|.	0.48201|.	0.82;0.82|.	5.15|5.15	4.0|4.0	0.46444|0.46444	.|.	0.154651|.	0.64402|.	D|.	0.000013|.	T|T	0.33789|0.33789	0.0875|0.0875	N|N	0.08118|0.08118	0|0	0.48185|0.48185	D|D	0.999606|0.999606	B;B|.	0.25272|.	0.122;0.002|.	B;B|.	0.19148|.	0.024;0.002|.	T|T	0.12091|0.12091	-1.0561|-1.0561	10|5	0.21014|.	T|.	0.42|.	.|.	9.6564|9.6564	0.39928|0.39928	0.9102:0.0:0.0898:0.0|0.9102:0.0:0.0898:0.0	.|.	362;362|.	O15033-2;O15033|.	.;K0317_HUMAN|.	I|K	362;201;201|95	ENSP00000348714:F362I;ENSP00000452101:F201I|.	ENSP00000348714:F362I|.	F|N	-|-	1|3	0|2	KIAA0317|KIAA0317	74210564|74210564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.971000|3.971000	0.56831|0.56831	2.159000|2.159000	0.67721|0.67721	0.477000|0.477000	0.44152|0.44152	TTC|AAT		0.403	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		6	13	0	0	0	1	0	6	13				
DDX26B	203522	broad.mit.edu	37	X	134711350	134711350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711350C>T	ENST00000370752.4	+	14	2340	c.2006C>T	c.(2005-2007)aCa>aTa	p.T669I	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	669										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTACATACAGGTATAGAG	0.443																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(2005-2007)aCa>aTa		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							106.0	85.0	92.0					X																	134711350		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134711350C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2006C>T	X.37:g.134711350C>T	ENSP00000359788:p.Thr669Ile					DDX26B_ENST00000493637.1_Intron	p.T669I	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			14	2340	+	Acute lymphoblastic leukemia(192;6.56e-05)		669					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2006C>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329248	0.41197	.	.	ENSG00000165359	ENST00000370752	T	0.30981	1.51	5.23	4.24	0.50183	.	0.188061	0.43747	D	0.000540	T	0.25044	0.0608	L	0.44542	1.39	0.53005	D	0.999966	B;B	0.24823	0.112;0.019	B;B	0.23574	0.047;0.028	T	0.05784	-1.0864	10	0.40728	T	0.16	-0.1621	9.6642	0.39974	0.4267:0.5733:0.0:0.0	.	669;669	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	I	669	ENSP00000359788:T669I	ENSP00000359788:T669I	T	+	2	0	DDX26B	134539016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.973000	0.63763	2.330000	0.79161	0.600000	0.82982	ACA		0.443	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		9	55	0	0	0	1	0	9	55				
SND1	27044	broad.mit.edu	37	7	127342560	127342560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127342560G>T	ENST00000354725.3	+	6	855	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	221	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGTTACAGTCATGCTGTC	0.512																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(661-663)Gtc>Ttc		staphylococcal nuclease and tudor domain containing 1							186.0	154.0	165.0					7																	127342560		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127342560G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.661G>T	7.37:g.127342560G>T	ENSP00000346762:p.Val221Phe						p.V221F	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			6	855	+			221			TNase-like 2.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.661G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987482	0.74589	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.37058	1.22	5.86	5.86	0.93980	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	N	0.11651	0.15	0.80722	D	1	B	0.25441	0.126	B	0.32289	0.143	T	0.07520	-1.0768	10	0.35671	T	0.21	-33.1869	18.0523	0.89353	0.0:0.0:1.0:0.0	.	221	Q7KZF4	SND1_HUMAN	F	221;211	ENSP00000346762:V221F	ENSP00000346762:V221F	V	+	1	0	SND1	127129796	1.000000	0.71417	0.973000	0.42090	0.947000	0.59692	7.791000	0.85805	2.937000	0.99478	0.650000	0.86243	GTC		0.512	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		11	109	1	0	3.86212e-05	1	4.30401e-05	11	109				
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7577139G>A	ENST00000269305.4	-	8	988	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGCTGTTCCGTCCCAGTAGA	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		50	Substitution - Missense(26)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(1)	p.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(9)|central_nervous_system(9)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thymus(1)|breast(1)|skin(1)|eye(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(799-801)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							51.0	45.0	47.0					17																	7577139		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577139G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.799C>T	17.37:g.7577139G>A	ENSP00000269305:p.Arg267Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000269305.4_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron	p.R267W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.799C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307537	0.81247	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.13	4.15	0.48705	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99862	0.9935	M	0.90759	3.145	0.58432	D	0.999999	D;D;D;P	0.89917	0.974;1.0;0.979;0.876	P;D;P;P	0.91635	0.703;0.999;0.868;0.728	D	0.96589	0.9436	10	0.87932	D	0	-8.7531	12.741	0.57253	0.0:0.0:0.8346:0.1654	rs55832599	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	267;267;267;267;267;256;135	ENSP00000352610:R267W;ENSP00000269305:R267W;ENSP00000398846:R267W;ENSP00000391127:R267W;ENSP00000391478:R267W;ENSP00000425104:R135W	ENSP00000269305:R267W	R	-	1	2	TP53	7517864	0.998000	0.40836	0.876000	0.34364	0.812000	0.45895	2.565000	0.45939	1.360000	0.45960	0.462000	0.41574	CGG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	16	0	0	0	1	0	6	16				
URGCP	55665	broad.mit.edu	37	7	43917062	43917062	+	Missense_Mutation	SNP	G	G	A	rs372757562		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917062G>A	ENST00000453200.1	-	6	2493	c.2000C>T	c.(1999-2001)aCg>aTg	p.T667M	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.T658M|URGCP_ENST00000223341.7_Missense_Mutation_p.T624M|URGCP_ENST00000336086.6_Missense_Mutation_p.T624M|URGCP_ENST00000443736.1_Missense_Mutation_p.T624M|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.T624M			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATGCTCAGCGTGCTCCCATC	0.657																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1870-1872)aCg>aTg		upregulator of cell proliferation		G	MET/THR,MET/THR,,MET/THR	0,4266		0,0,2133	28.0	32.0	31.0		2000,1871,,1973	4.2	0.3	7		31	1,8463		0,1,4231	no	missense,missense,intron,missense	URGCP,URGCP-MRPS24	NM_001077663.1,NM_001077664.1,NM_001204871.1,NM_017920.3	81,81,,81	0,1,6364	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging,,probably-damaging	667/932,624/889,,658/923	43917062	1,12729	2133	4232	6365	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917062G>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2000C>T	7.37:g.43917062G>A	ENSP00000396918:p.Thr667Met					URGCP_ENST00000447717.3_Missense_Mutation_p.T624M|URGCP_ENST00000443736.1_Missense_Mutation_p.T624M|URGCP_ENST00000402306.3_Missense_Mutation_p.T658M|URGCP_ENST00000223341.7_Missense_Mutation_p.T624M|URGCP_ENST00000453200.1_Missense_Mutation_p.T667M|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron	p.T624M			Q8TCY9	URGCP_HUMAN			4	4107	-			667					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1871C>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145862	0.57044	0.0	1.18E-4	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10477	2.88;2.88;2.87;2.88;2.87;2.88	5.97	4.16	0.48862	.	0.272815	0.39687	N	0.001298	T	0.21718	0.0523	L	0.51422	1.61	0.35051	D	0.760596	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.862	T	0.19844	-1.0293	10	0.87932	D	0	-37.39	10.9104	0.47106	0.0:0.1549:0.7115:0.1336	.	658;667	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	M	624;624;658;624;667;624	ENSP00000223341:T624M;ENSP00000336872:T624M;ENSP00000384955:T658M;ENSP00000392136:T624M;ENSP00000396918:T667M;ENSP00000402803:T624M	ENSP00000223341:T624M	T	-	2	0	URGCP	43883587	1.000000	0.71417	0.272000	0.24630	0.817000	0.46193	5.299000	0.65716	0.862000	0.35528	0.655000	0.94253	ACG		0.657	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		27	14	0	0	0	1	0	27	14				
GYLTL1B	120071	broad.mit.edu	37	11	45949768	45949768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45949768G>A	ENST00000531526.1	+	13	1906	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A568T|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A599T|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A599T|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A568T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	599					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACAGACTATGCCCGCTGGCG	0.672																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1795-1797)Gcc>Acc		glycosyltransferase-like 1B							80.0	84.0	82.0					11																	45949768		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45949768G>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1795G>A	11.37:g.45949768G>A	ENSP00000432869:p.Ala599Thr					GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A568T|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A599T|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A568T|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A599T	p.A599T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	13	1906	+			599					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1795G>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045704	0.55110	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.57	2.53	0.30540	.	0.210180	0.49916	N	0.000138	T	0.12305	0.0299	N	0.17800	0.525	0.80722	D	1	B;B;B	0.17667	0.023;0.002;0.002	B;B;B	0.26517	0.07;0.034;0.006	T	0.15521	-1.0434	10	0.22706	T	0.39	-6.5207	7.4349	0.27150	0.1498:0.0:0.7166:0.1336	.	568;568;599	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	T	568;599;599;599;568	ENSP00000431932:A568T;ENSP00000432869:A599T;ENSP00000385235:A599T;ENSP00000324570:A599T;ENSP00000445044:A568T	ENSP00000324570:A599T	A	+	1	0	GYLTL1B	45906344	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	5.453000	0.66645	0.238000	0.21222	-0.367000	0.07326	GCC		0.672	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		10	67	0	0	0	1	0	10	67				
STAT4	6775	broad.mit.edu	37	2	191897813	191897813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191897813C>T	ENST00000392320.2	-	21	2229	c.1915G>A	c.(1915-1917)Gct>Act	p.A639T	STAT4_ENST00000358470.4_Missense_Mutation_p.A639T|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	639	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGATGTCAGCGAATGGCAGA	0.438																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1915-1917)Gct>Act		signal transducer and activator of transcription 4							116.0	116.0	116.0					2																	191897813		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897813C>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1915G>A	2.37:g.191897813C>T	ENSP00000376134:p.Ala639Thr					STAT4_ENST00000358470.4_Missense_Mutation_p.A639T	p.A639T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2229	-			639			SH2.		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1915G>A	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008241	0.54361	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96745	-4.11;-4.11	5.38	4.5	0.54988	SH2 motif (3);	0.109070	0.64402	D	0.000009	D	0.95749	0.8617	L	0.60455	1.87	0.80722	D	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.51453	0.67;0.67;0.67	D	0.94106	0.7366	10	0.17369	T	0.5	-39.1438	14.9493	0.71060	0.0:0.7292:0.2708:0.0	.	548;639;639	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	T	639	ENSP00000351255:A639T;ENSP00000376134:A639T	ENSP00000351255:A639T	A	-	1	0	STAT4	191606058	0.999000	0.42202	0.897000	0.35233	0.993000	0.82548	3.918000	0.56432	1.395000	0.46643	-0.156000	0.13503	GCT		0.438	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		34	41	0	0	0	1	0	34	41				
TCF4	6925	broad.mit.edu	37	18	52895571	52895571	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52895571G>T	ENST00000356073.4	-	19	2500	c.1889C>A	c.(1888-1890)gCt>gAt	p.A630D	TCF4_ENST00000457482.3_Missense_Mutation_p.A474D|TCF4_ENST00000564403.2_Missense_Mutation_p.A640D|TCF4_ENST00000566286.1_Missense_Mutation_p.A627D|TCF4_ENST00000561992.1_Missense_Mutation_p.A500D|TCF4_ENST00000543082.1_Missense_Mutation_p.A588D|TCF4_ENST00000565018.2_Missense_Mutation_p.A634D|TCF4_ENST00000354452.3_Missense_Mutation_p.A634D|TCF4_ENST00000544241.2_Missense_Mutation_p.A563D|TCF4_ENST00000568673.1_Missense_Mutation_p.A610D|TCF4_ENST00000398339.1_Missense_Mutation_p.A736D|TCF4_ENST00000564228.1_Missense_Mutation_p.A559D|TCF4_ENST00000540999.1_Missense_Mutation_p.A606D|TCF4_ENST00000570287.2_Missense_Mutation_p.A470D|TCF4_ENST00000568740.1_Missense_Mutation_p.A605D|TCF4_ENST00000570177.2_Missense_Mutation_p.A500D|TCF4_ENST00000537578.1_Missense_Mutation_p.A610D|TCF4_ENST00000537856.3_Missense_Mutation_p.A500D|TCF4_ENST00000564999.1_Missense_Mutation_p.A630D|TCF4_ENST00000561831.3_Missense_Mutation_p.A470D|TCF4_ENST00000566279.1_Missense_Mutation_p.A574D|TCF4_ENST00000567880.1_Missense_Mutation_p.A570D	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	630	Class A specific domain.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAGACACGCAGCTTTCGGATT	0.532																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1900-1902)gCt>gAt		transcription factor 4							122.0	121.0	121.0					18																	52895571		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52895571G>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1889C>A	18.37:g.52895571G>T	ENSP00000348374:p.Ala630Asp					TCF4_ENST00000540999.1_Missense_Mutation_p.A606D|TCF4_ENST00000356073.4_Missense_Mutation_p.A630D|TCF4_ENST00000561992.1_Missense_Mutation_p.A500D|TCF4_ENST00000543082.1_Missense_Mutation_p.A588D|TCF4_ENST00000570287.2_Missense_Mutation_p.A470D|TCF4_ENST00000564999.1_Missense_Mutation_p.A630D|TCF4_ENST00000570177.2_Missense_Mutation_p.A500D|TCF4_ENST00000568673.1_Missense_Mutation_p.A610D|TCF4_ENST00000568740.1_Missense_Mutation_p.A605D|TCF4_ENST00000564403.2_Missense_Mutation_p.A640D|TCF4_ENST00000565018.2_Missense_Mutation_p.A634D|TCF4_ENST00000564228.1_Missense_Mutation_p.A559D|TCF4_ENST00000561831.3_Missense_Mutation_p.A470D|TCF4_ENST00000566279.1_Missense_Mutation_p.A574D|TCF4_ENST00000537856.3_Missense_Mutation_p.A500D|TCF4_ENST00000537578.1_Missense_Mutation_p.A610D|TCF4_ENST00000457482.3_Missense_Mutation_p.A474D|TCF4_ENST00000567880.1_Missense_Mutation_p.A570D|TCF4_ENST00000398339.1_Missense_Mutation_p.A736D|TCF4_ENST00000566286.1_Missense_Mutation_p.A627D|TCF4_ENST00000544241.2_Missense_Mutation_p.A563D	p.A634D	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	19	2512	-			630			Class A specific domain.		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1901C>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920921	0.92249	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.26223	1.96;1.75;1.99;1.76;2.01;1.98;1.99;1.77;1.94	5.86	5.86	0.93980	Helix-loop-helix DNA-binding (1);	0.053643	0.64402	D	0.000001	T	0.55194	0.1905	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;P;D	0.76494	0.999;0.997;0.995;0.999;0.969;0.991;0.997;0.95;0.996	D;D;D;D;P;D;D;P;D	0.78314	0.988;0.975;0.962;0.991;0.54;0.944;0.974;0.525;0.944	T	0.56625	-0.7948	10	0.87932	D	0	-12.8526	18.9711	0.92715	0.0:0.0:1.0:0.0	.	610;634;470;736;630;588;563;474;627	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	D	634;474;630;588;606;610;563;500;736	ENSP00000346440:A634D;ENSP00000409447:A474D;ENSP00000348374:A630D;ENSP00000439656:A588D;ENSP00000445202:A606D;ENSP00000440731:A610D;ENSP00000441562:A563D;ENSP00000439827:A500D;ENSP00000381382:A736D	ENSP00000346440:A634D	A	-	2	0	TCF4	51046569	1.000000	0.71417	0.968000	0.41197	0.688000	0.40055	9.814000	0.99346	2.776000	0.95493	0.650000	0.86243	GCT		0.532	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		28	43	1	0	7.01153e-11	1	8.6781e-11	28	43				
ADAMTS14	140766	broad.mit.edu	37	10	72520573	72520573	+	Silent	SNP	C	C	T	rs373085854		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72520573C>T	ENST00000373207.1	+	22	3636	c.3636C>T	c.(3634-3636)ccC>ccT	p.P1212P	ADAMTS14_ENST00000373208.1_Silent_p.P1215P	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1212	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGAGACATCCCGGCACCAGCC	0.642																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3643-3645)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							54.0	51.0	52.0					10																	72520573		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72520573C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3636C>T	10.37:g.72520573C>T						ADAMTS14_ENST00000373207.1_Silent_p.P1212P	p.P1215P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			22	3645	+			1212			Pro-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.3645C>T	CCDS7306.1																																																																																				0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		10	29	0	0	0	1	0	10	29				
MFN1	55669	broad.mit.edu	37	3	179082095	179082095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179082095G>T	ENST00000471841.1	+	6	673	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	MFN1_ENST00000263969.5_Missense_Mutation_p.D183Y|MFN1_ENST00000280653.7_Missense_Mutation_p.D183Y	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	183	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCCAGGCACAGATGTCACTAC	0.323																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(547-549)Gat>Tat		mitofusin 1							122.0	113.0	116.0					3																	179082095		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179082095G>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.547G>T	3.37:g.179082095G>T	ENSP00000420617:p.Asp183Tyr					MFN1_ENST00000280653.7_Missense_Mutation_p.D183Y|MFN1_ENST00000263969.5_Missense_Mutation_p.D183Y	p.D183Y	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	673	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		183					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.547G>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671407	0.67814	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-3.67;-3.67	5.24	5.24	0.73138	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	M	0.72624	2.21	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.968;0.983	D	0.99334	1.0910	10	0.87932	D	0	-23.2645	19.1856	0.93642	0.0:0.0:1.0:0.0	.	183;211;183	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	Y	183;183;183;183;36;46	ENSP00000420617:D183Y;ENSP00000280653:D183Y;ENSP00000263969:D183Y;ENSP00000420148:D36Y;ENSP00000419926:D46Y	ENSP00000263969:D183Y	D	+	1	0	MFN1	180564789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.611000	0.88343	0.650000	0.86243	GAT		0.323	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		16	42	1	0	0.00400662	1	0.00423533	16	42				
CXorf58	254158	broad.mit.edu	37	X	23953347	23953347	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23953347C>A	ENST00000379211.3	+	7	1139	c.590C>A	c.(589-591)tCt>tAt	p.S197Y		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	197										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CCTGCATTTTCTGGCGGCAGA	0.423																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(589-591)tCt>tAt		chromosome X open reading frame 58							102.0	108.0	106.0					X																	23953347		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23953347C>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.590C>A	X.37:g.23953347C>A	ENSP00000368511:p.Ser197Tyr						p.S197Y	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			7	1139	+			197						Missense_Mutation	SNP	ENST00000379211.3	37	c.590C>A	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.341644	0.01277	.	.	ENSG00000165182	ENST00000379211	T	0.30448	1.53	5.91	-1.04	0.10068	.	0.960649	0.08649	N	0.914346	T	0.20088	0.0483	L	0.54323	1.7	0.09310	N	1	B;B	0.33171	0.4;0.4	B;B	0.30029	0.11;0.11	T	0.25047	-1.0143	10	0.13108	T	0.6	-0.4047	1.7221	0.02914	0.1511:0.2043:0.1463:0.4983	.	197;197	B7ZLS7;Q96LI9	.;CX058_HUMAN	Y	197	ENSP00000368511:S197Y	ENSP00000368511:S197Y	S	+	2	0	CXorf58	23863268	0.085000	0.21516	0.035000	0.18076	0.026000	0.11368	0.191000	0.17076	-0.237000	0.09739	-0.519000	0.04390	TCT		0.423	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		89	113	1	0	9.79686e-34	1	1.31641e-33	89	113				
STAG2	10735	broad.mit.edu	37	X	123185164	123185164	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185164G>T	ENST00000371160.1	+	13	1406		c.e13-1		STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttGTCCTTAGGATAGAATTG	0.279																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.e13-1		stromal antigen 2							63.0	58.0	60.0					X																	123185164		2201	4284	6485	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123185164G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1117-1G>T	X.37:g.123185164G>T						STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371157.3_Splice_Site				Q8N3U4	STAG2_HUMAN			13	1406	+								B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37		CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764035	0.31228	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3073	0.90187	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123012845	1.000000	0.71417	0.985000	0.45067	0.015000	0.08874	9.827000	0.99397	2.262000	0.75019	0.544000	0.68410	.		0.279	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron	7	77	1	0	0.00198382	1	0.00210581	7	77				
TAPT1-AS1	202020	broad.mit.edu	37	4	16257980	16257980	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:16257980G>A	ENST00000570786.1	+	0	335				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		TCGGAGAATCGAATCATCTGA	0.458																																						ENST00000570786.1																			0																																																			0							g.chr4:16257980G>A			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16257980G>A						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	335	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.458	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		10	18	0	0	0	1	0	10	18				
LRRC75A	388341	broad.mit.edu	37	17	16347042	16347042	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16347042G>T	ENST00000470794.1	-	4	922	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|FAM211A_ENST00000409083.3_3'UTR|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA	NM_001113567.2	NP_001107039.1														lung(1)	1						CCCAGCTCCAGGATGGTGGGT	0.662																																						ENST00000470794.1																			0				lung(1)	1						c.(895-897)Ctg>Atg		family with sequence similarity 211, member A							44.0	49.0	47.0					17																	16347042		692	1591	2283	SO:0001583	missense	388341							g.chr17:16347042G>T																												ENST00000470794.1:c.895C>A	17.37:g.16347042G>T	ENSP00000419502:p.Leu299Met					C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|FAM211A_ENST00000409083.3_3'UTR	p.L299M	NM_001113567.2	NP_001107039.1	Q8NAA5	CQ076_HUMAN			4	922	-			299						Missense_Mutation	SNP	ENST00000470794.1	37	c.895C>A	CCDS45620.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145525	0.57044	.	.	ENSG00000181350	ENST00000470794	T	0.49432	0.78	5.34	3.35	0.38373	.	.	.	.	.	T	0.55321	0.1913	L	0.38175	1.15	0.38098	D	0.937177	D	0.89917	1.0	D	0.91635	0.999	T	0.56739	-0.7929	9	0.48119	T	0.1	.	10.2687	0.43470	0.1628:0.0:0.8372:0.0	.	299	Q8NAA5	CQ076_HUMAN	M	299	ENSP00000419502:L299M	ENSP00000419502:L299M	L	-	1	2	C17orf76	16287767	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.179000	0.50887	0.758000	0.33059	0.561000	0.74099	CTG		0.662	FAM211A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130463.3			7	20	1	0	8.12818e-05	1	8.99451e-05	7	20				
IPCEF1	26034	broad.mit.edu	37	6	154489055	154489055	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154489055C>A	ENST00000265198.4	-	11	1256	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	IPCEF1_ENST00000519344.1_Splice_Site_p.K339N|IPCEF1_ENST00000422970.2_Splice_Site_p.K368N|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Splice_Site_p.K368N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	367					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATTTTGTTACCTTTAATGTGC	0.388																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.e11+1		interaction protein for cytohesin exchange factors 1							112.0	104.0	107.0					6																	154489055		2203	4300	6503	SO:0001630	splice_region_variant	26034							g.chr6:154489055C>A	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1101+1G>T	6.37:g.154489055C>A						IPCEF1_ENST00000367220.4_Splice_Site_p.K368_splice|IPCEF1_ENST00000422970.2_Splice_Site_p.K368_splice|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Splice_Site_p.K339_splice	p.K367_splice	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					11	1256	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Splice_Site	SNP	ENST00000265198.4	37	c.1101_splice	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624511	0.66901	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.43294	0.95;0.95;0.95;1.08	5.17	4.29	0.51040	.	0.100026	0.64402	D	0.000002	T	0.60248	0.2254	M	0.85197	2.74	0.44736	D	0.997733	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.976;0.989;0.95	T	0.65323	-0.6196	9	.	.	.	-23.5581	14.0534	0.64751	0.0:0.9259:0.0:0.0741	.	367;368;339	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	N	367;368;368;339	ENSP00000265198:K367N;ENSP00000394751:K368N;ENSP00000356189:K368N;ENSP00000430287:K339N	.	K	-	3	2	IPCEF1	154530747	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	5.775000	0.68915	2.413000	0.81919	0.591000	0.81541	AAG		0.388	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699	Missense_Mutation	25	49	1	0	1.36565e-18	1	1.78266e-18	25	49				
CLCN3	1182	broad.mit.edu	37	4	170628254	170628254	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170628254G>T	ENST00000513761.1	+	11	2545	c.1986G>T	c.(1984-1986)agG>agT	p.R662S	CLCN3_ENST00000347613.4_Missense_Mutation_p.R662S|CLCN3_ENST00000360642.3_Missense_Mutation_p.R635S|CLCN3_ENST00000504131.2_Missense_Mutation_p.R645S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	662	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACCTCGAAGGAATGATCCTC	0.408																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1984-1986)agG>agT		chloride channel, voltage-sensitive 3							152.0	137.0	142.0					4																	170628254		2203	4300	6503	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628254G>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1986G>T	4.37:g.170628254G>T	ENSP00000424603:p.Arg662Ser					CLCN3_ENST00000347613.4_Missense_Mutation_p.R662S|CLCN3_ENST00000360642.3_Missense_Mutation_p.R635S|CLCN3_ENST00000504131.2_Missense_Mutation_p.R645S	p.R662S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	11	2545	+		Prostate(90;0.00601)|Renal(120;0.0183)	662			CBS 1.		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1986G>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127252	0.56721	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.89485	-2.51;-2.52;-2.47;-2.49;-2.33	5.69	1.97	0.26223	Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	M	0.65975	2.015	0.58432	D	0.999999	B;B;B;B;B	0.29432	0.244;0.059;0.047;0.059;0.048	B;B;B;B;B	0.38683	0.279;0.058;0.034;0.085;0.02	D	0.83599	0.0127	10	0.44086	T	0.13	-7.7605	10.7577	0.46247	0.3935:0.0:0.6065:0.0	.	635;645;635;662;662	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	S	662;662;635;645;635	ENSP00000424603:R662S;ENSP00000261514:R662S;ENSP00000353857:R635S;ENSP00000424540:R645S;ENSP00000425323:R635S	ENSP00000261514:R662S	R	+	3	2	CLCN3	170864829	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	1.061000	0.30542	0.320000	0.23234	0.655000	0.94253	AGG		0.408	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			11	91	1	0	0.000673444	1	0.000724755	11	91				
NTRK3	4916	broad.mit.edu	37	15	88524540	88524540	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88524540C>A	ENST00000360948.2	-	14	1747				NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R546I|NTRK3_ENST00000317501.3_Missense_Mutation_p.R546I|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000394480.2_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R546I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			tagatgatctctattgtcctt	0.438			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000317501.3				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	1	Substitution - Missense(1)	p.R546I(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1636-1638)aGa>aTa		neurotrophic tyrosine kinase, receptor, type 3							126.0	112.0	117.0					15																	88524540		2201	4299	6500	SO:0001627	intron_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88524540C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-40556G>T	15.37:g.88524540C>A		TSP Lung(13;0.10)				NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R546I|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000355254.2_Intron	p.R546I	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1798	-			0			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1637G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691356	0.48097	.	.	ENSG00000140538	ENST00000543429;ENST00000540489;ENST00000317501	T;T	0.63417	-0.04;-0.04	3.83	3.83	0.44106	.	.	.	.	.	T	0.52338	0.1728	N	0.08118	0	0.41448	D	0.987967	P	0.45531	0.86	P	0.52309	0.695	T	0.60454	-0.7260	9	0.87932	D	0	.	11.5631	0.50790	0.0:1.0:0.0:0.0	.	546	Q96CY4	.	I	17;546;546	ENSP00000444673:R546I;ENSP00000318328:R546I	ENSP00000318328:R546I	R	-	2	0	NTRK3	86325544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.827000	0.48112	2.419000	0.82065	0.655000	0.94253	AGA		0.438	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				4	39	1	0	0.00909568	1	0.00947522	4	39				
TRIM51HP	440041	broad.mit.edu	37	11	55065578	55065578	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55065578C>T	ENST00000526016.1	-	0	130					NR_038174.2				tripartite motif-containing 51H, pseudogene																		ATGTTGTCTCCTTGCATTTAG	0.493																																						ENST00000526016.1																			0																																																			0							g.chr11:55065578C>T			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065578C>T								NR_038174.2						0	130	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.493	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			21	20	0	0	0	1	0	21	20				
HENMT1	113802	broad.mit.edu	37	1	109193759	109193759	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109193759C>A	ENST00000370032.5	-	6	891	c.471G>T	c.(469-471)atG>atT	p.M157I	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000370031.1_Missense_Mutation_p.M157I|HENMT1_ENST00000402983.1_Missense_Mutation_p.M157I	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	157					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TGATGACAATCATGGATGGAG	0.393																																						ENST00000370032.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						c.(469-471)atG>atT		HEN1 methyltransferase homolog 1 (Arabidopsis)							153.0	153.0	153.0					1																	109193759		2203	4300	6503	SO:0001583	missense	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109193759C>A		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.471G>T	1.37:g.109193759C>A	ENSP00000359049:p.Met157Ile					HENMT1_ENST00000402983.1_Missense_Mutation_p.M157I|HENMT1_ENST00000370031.1_Missense_Mutation_p.M157I|HENMT1_ENST00000493676.1_5'UTR	p.M157I	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN			6	891	-			157					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	c.471G>T	CCDS787.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044582	0.19748	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.39	3.14	0.36123	.	0.252282	0.47455	N	0.000235	T	0.02193	0.0068	N	0.25332	0.735	0.09310	N	1	B	0.18461	0.028	B	0.18263	0.021	T	0.44636	-0.9315	10	0.12766	T	0.61	-9.545	5.2317	0.15426	0.2403:0.5567:0.122:0.0809	.	157	Q5T8I9	HENMT_HUMAN	I	157	ENSP00000385655:M157I;ENSP00000359048:M157I;ENSP00000359049:M157I;ENSP00000403953:M157I	ENSP00000359048:M157I	M	-	3	0	HENMT1	108995282	0.010000	0.17322	0.839000	0.33178	0.992000	0.81027	0.083000	0.14871	1.253000	0.44018	0.555000	0.69702	ATG		0.393	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		78	55	1	0	8.78091e-33	1	1.1787e-32	78	55				
NDRG3	57446	broad.mit.edu	37	20	35335406	35335406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35335406C>T	ENST00000349004.1	-	3	143	c.62G>A	c.(61-63)gGt>gAt	p.G21D	NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000373803.2_Missense_Mutation_p.G21D|NDRG3_ENST00000359675.2_Intron|NDRG3_ENST00000373773.3_Missense_Mutation_p.V2I	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	21					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GTTTCTTGTACCATTCTGTCA	0.478																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(61-63)gGt>gAt		NDRG family member 3							163.0	140.0	148.0					20																	35335406		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35335406C>T	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.62G>A	20.37:g.35335406C>T	ENSP00000345292:p.Gly21Asp					NDRG3_ENST00000373773.3_Missense_Mutation_p.V2I|NDRG3_ENST00000359675.2_Intron|NDRG3_ENST00000349004.1_Missense_Mutation_p.G21D|NDRG3_ENST00000540765.1_Intron	p.G21D			Q9UGV2	NDRG3_HUMAN			3	118	-		Myeloproliferative disorder(115;0.00878)	21					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.62G>A	CCDS13285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.860|9.860	1.195976|1.195976	0.22037|0.22037	.|.	.|.	ENSG00000101079|ENSG00000101079	ENST00000349004;ENST00000373803|ENST00000373773	T;T|T	0.16897|0.43294	2.32;2.31|0.95	5.87|5.87	4.91|4.91	0.64330|0.64330	.|.	0.236272|.	0.44285|.	D|.	0.000461|.	T|T	0.31231|0.31231	0.0790|0.0790	N|N	0.19112|0.19112	0.55|0.55	0.20307|0.20307	N|N	0.999916|0.999916	B|P	0.20671|0.41102	0.047|0.738	B|B	0.16722|0.39465	0.016|0.3	T|T	0.14699|0.14699	-1.0463|-1.0463	10|9	0.11485|0.66056	T|D	0.65|0.02	.|.	12.2207|12.2207	0.54433|0.54433	0.1703:0.8297:0.0:0.0|0.1703:0.8297:0.0:0.0	.|.	21|2	Q9UGV2|F8WBF9	NDRG3_HUMAN|.	D|I	21|2	ENSP00000345292:G21D;ENSP00000362909:G21D|ENSP00000362878:V2I	ENSP00000345292:G21D|ENSP00000362878:V2I	G|V	-|-	2|1	0|0	NDRG3|NDRG3	34768820|34768820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.290000|2.290000	0.43531|0.43531	1.434000|1.434000	0.47414|0.47414	0.563000|0.563000	0.77884|0.77884	GGT|GTA		0.478	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			6	57	0	0	0	1	0	6	57				
FAM210A	125228	broad.mit.edu	37	18	13681863	13681863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13681863C>T	ENST00000322247.3	-	3	601	c.214G>A	c.(214-216)Gat>Aat	p.D72N	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.D72N	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	72						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GGATGAGCATCCAATGGCCTC	0.478																																						ENST00000322247.3																			0											c.(214-216)Gat>Aat		family with sequence similarity 210, member A							195.0	186.0	189.0					18																	13681863		2203	4300	6503	SO:0001583	missense	125228					integral to membrane		g.chr18:13681863C>T	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.214G>A	18.37:g.13681863C>T	ENSP00000323635:p.Asp72Asn					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.D72N	p.D72N	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	601	-			72					D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	c.214G>A	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081351	0.20309	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.22945	1.93;1.93	5.34	2.33	0.28932	.	2.831860	0.01033	N	0.004161	T	0.24392	0.0591	L	0.47716	1.5	0.09310	N	1	B	0.23650	0.089	B	0.17098	0.017	T	0.19516	-1.0303	10	0.17369	T	0.5	4.1206	7.1788	0.25760	0.0:0.6979:0.0:0.3021	.	72	Q96ND0	CR019_HUMAN	N	72	ENSP00000323635:D72N;ENSP00000386115:D72N	ENSP00000323635:D72N	D	-	1	0	C18orf19	13671863	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-0.308000	0.08156	0.147000	0.19030	0.655000	0.94253	GAT		0.478	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		46	70	0	0	0	1	0	46	70				
RELA	5970	broad.mit.edu	37	11	65429438	65429438	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429438T>C	ENST00000406246.3	-	3	417	c.156A>G	c.(154-156)acA>acG	p.T52T	RELA_ENST00000525693.1_Silent_p.T52T|RELA_ENST00000308639.9_Silent_p.T52T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	52	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGTGGTATCTGTGCTCCTCT	0.637																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(154-156)acA>acG		v-rel avian reticuloendotheliosis viral oncogene homolog A							96.0	85.0	89.0					11																	65429438		2201	4297	6498	SO:0001819	synonymous_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65429438T>C	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.156A>G	11.37:g.65429438T>C						RELA_ENST00000406246.3_Silent_p.T52T|RELA_ENST00000308639.9_Silent_p.T52T	p.T52T			Q04206	TF65_HUMAN			3	218	-			52			RHD.		Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	37	c.156A>G	CCDS31609.1																																																																																				0.637	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		5	32	0	0	0	1	0	5	32				
MED13L	23389	broad.mit.edu	37	12	116425028	116425028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116425028G>A	ENST00000281928.3	-	18	4206	c.4000C>T	c.(4000-4002)Ctc>Ttc	p.L1334F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1334						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATCTTGGAGAAAGGGCTGC	0.527																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(4000-4002)Ctc>Ttc		mediator complex subunit 13-like							102.0	83.0	90.0					12																	116425028		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116425028G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4000C>T	12.37:g.116425028G>A	ENSP00000281928:p.Leu1334Phe						p.L1334F	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	18	4206	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1334					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4000C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737102	0.69304	.	.	ENSG00000123066	ENST00000281928	T	0.61742	0.08	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.77308	0.4111	M	0.82193	2.58	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.79757	-0.1669	10	0.87932	D	0	.	13.5937	0.61975	0.0704:0.0:0.9296:0.0	.	1334	Q71F56	MD13L_HUMAN	F	1334	ENSP00000281928:L1334F	ENSP00000281928:L1334F	L	-	1	0	MED13L	114909411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.434000	0.73408	2.832000	0.97577	0.655000	0.94253	CTC		0.527	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			15	32	0	0	0	1	0	15	32				
SLC5A3	6526	broad.mit.edu	37	21	35468352	35468352	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468352G>A	ENST00000381151.3	+	2	1367	c.855G>A	c.(853-855)agG>agA	p.R285R	SLC5A3_ENST00000608209.1_Silent_p.R285R|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	285		Implicated in sodium coupling. {ECO:0000250}.			inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCGTGCAGAGGGTCCTTGCAG	0.483																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(853-855)agG>agA		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							105.0	99.0	101.0					21																	35468352		2203	4300	6503	SO:0001819	synonymous_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468352G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.855G>A	21.37:g.35468352G>A						MRPS6_ENST00000399312.2_Intron	p.R285R	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1367	+			285				Implicated in sodium coupling (By similarity).	O43489	Silent	SNP	ENST00000381151.3	37	c.855G>A	CCDS33549.1																																																																																				0.483	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			41	55	0	0	0	1	0	41	55				
KLF5	688	broad.mit.edu	37	13	73636832	73636832	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73636832C>A	ENST00000377687.4	+	2	1631	c.1095C>A	c.(1093-1095)ccC>ccA	p.P365P	KLF5_ENST00000539231.1_Silent_p.P274P	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	365					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAGTAACCCCGATTTGGAGA	0.443																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1093-1095)ccC>ccA		Kruppel-like factor 5 (intestinal)							153.0	154.0	154.0					13																	73636832		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636832C>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1095C>A	13.37:g.73636832C>A						KLF5_ENST00000539231.1_Silent_p.P274P	p.P365P	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1631	+		Prostate(6;0.00187)|Breast(118;0.0735)	365					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.1095C>A	CCDS9448.1																																																																																				0.443	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			6	89	1	0	0.00116845	1	0.00124821	6	89				
UGGT2	55757	broad.mit.edu	37	13	96624864	96624864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96624864C>T	ENST00000376747.3	-	11	1224	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	385					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATATCAACACGAAGGCCATT	0.313																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(1153-1155)cGt>cAt		UDP-glucose glycoprotein glucosyltransferase 2							111.0	109.0	110.0					13																	96624864		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96624864C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1154G>A	13.37:g.96624864C>T	ENSP00000365938:p.Arg385His						p.R385H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			11	1224	-			385					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1154G>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.574953	0.00131	.	.	ENSG00000102595	ENST00000376747	T	0.22945	1.93	5.21	-7.15	0.01521	.	0.484392	0.22279	N	0.062142	T	0.05090	0.0136	N	0.02129	-0.67	0.49130	D	0.999757	B	0.02656	0.0	B	0.01281	0.0	T	0.41538	-0.9503	10	0.12103	T	0.63	1.9182	2.6694	0.05063	0.1894:0.2104:0.0946:0.5057	.	385	Q9NYU1	UGGG2_HUMAN	H	385	ENSP00000365938:R385H	ENSP00000365938:R385H	R	-	2	0	UGGT2	95422865	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.225000	0.02956	-2.142000	0.00804	-3.049000	0.00069	CGT		0.313	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		5	50	0	0	0	1	0	5	50				
ACTA2	59	broad.mit.edu	37	10	90701149	90701149	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90701149T>C	ENST00000458208.1	-	6	929		c.e6-2		ACTA2_ENST00000224784.6_Splice_Site|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000480297.1_Splice_Site|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta						glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCACGATGCCTGGGAGACAAT	0.567																																						ENST00000458208.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.e6-2		actin, alpha 2, smooth muscle, aorta							94.0	83.0	87.0					10																	90701149		2203	4300	6503	SO:0001630	splice_region_variant	59				response to virus	cytosol	ATP binding	g.chr10:90701149T>C	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.455-2A>G	10.37:g.90701149T>C						STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_Splice_Site|ACTA2_ENST00000224784.6_Splice_Site		NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	6	929	-		Colorectal(252;0.0161)						B2R8A4|P03996|P04108|Q6FI19	Splice_Site	SNP	ENST00000458208.1	37		CCDS7392.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471814	0.84533	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2736	0.73726	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTA2	90691129	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.115000	0.71566	2.284000	0.76573	0.533000	0.62120	.		0.567	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	Intron	5	35	0	0	0	1	0	5	35				
PRRC2A	7916	broad.mit.edu	37	6	31605083	31605083	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31605083C>T	ENST00000376033.2	+	30	6549	c.6315C>T	c.(6313-6315)cgC>cgT	p.R2105R	PRRC2A_ENST00000376007.4_Silent_p.R2105R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2105	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCACCCAGCGCGTCGACCTTT	0.562																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(6313-6315)cgC>cgT		proline-rich coiled-coil 2A							80.0	85.0	83.0					6																	31605083		1509	2709	4218	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31605083C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6315C>T	6.37:g.31605083C>T						PRRC2A_ENST00000376007.4_Silent_p.R2105R	p.R2105R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			30	6549	+			2105			3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.6315C>T	CCDS4708.1																																																																																				0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	46	0	0	0	1	0	8	46				
NPY1R	4886	broad.mit.edu	37	4	164246906	164246906	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164246906T>C	ENST00000296533.2	-	3	1235	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	NPY1R_ENST00000509586.1_De_novo_Start_OutOfFrame	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	235					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)				TAGGCGTATATATATCTATGG	0.313																																						ENST00000509586.1																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30								neuropeptide Y receptor Y1							53.0	51.0	52.0					4																	164246906		2202	4296	6498	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246906T>C		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.704A>G	4.37:g.164246906T>C	ENSP00000354652:p.Tyr235Cys					NPY1R_ENST00000296533.2_Missense_Mutation_p.Y235C				P25929	NPY1R_HUMAN			0	236	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)						B2R6H5	Translation_Start_Site	SNP	ENST00000296533.2	37		CCDS34089.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370164	0.42003	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	T;T	0.38077	1.16;1.16	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.076652	0.53938	D	0.000047	T	0.46210	0.1381	L	0.42008	1.315	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	T	0.35025	-0.9805	10	0.40728	T	0.16	.	11.3271	0.49454	0.1356:0.0:0.0:0.8644	.	235	P25929	NPY1R_HUMAN	C	235;57	ENSP00000354652:Y235C;ENSP00000421618:Y57C	ENSP00000354652:Y235C	Y	-	2	0	NPY1R	164466356	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	3.961000	0.56759	2.237000	0.73441	0.533000	0.62120	TAT		0.313	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			4	32	0	0	0	1	0	4	32				
AFF2	2334	broad.mit.edu	37	X	148035176	148035176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148035176C>T	ENST00000370460.2	+	10	1943	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	AFF2_ENST00000286437.5_Silent_p.S129S|AFF2_ENST00000342251.3_Silent_p.S455S|AFF2_ENST00000370457.5_Silent_p.S455S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	488					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCCAGCGAATCGGAGA	0.552																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1462-1464)agC>agT		AF4/FMR2 family, member 2							99.0	99.0	99.0					X																	148035176		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035176C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1464C>T	X.37:g.148035176C>T						AFF2_ENST00000342251.3_Silent_p.S455S|AFF2_ENST00000286437.5_Silent_p.S129S|AFF2_ENST00000370457.5_Silent_p.S455S	p.S488S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			10	1943	+	Acute lymphoblastic leukemia(192;6.56e-05)		488					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1464C>T	CCDS14684.1																																																																																				0.552	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		51	75	0	0	0	1	0	51	75				
TNRC6A	27327	broad.mit.edu	37	16	24815620	24815620	+	Missense_Mutation	SNP	C	C	T	rs373034911		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24815620C>T	ENST00000395799.3	+	12	3946	c.3817C>T	c.(3817-3819)Cgc>Tgc	p.R1273C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1273C|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1273	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCCATGGAGCGCAATCCTTA	0.378																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3817-3819)Cgc>Tgc		trinucleotide repeat containing 6A		C	CYS/ARG	0,4394		0,0,2197	84.0	78.0	80.0		3817	6.1	1.0	16		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNRC6A	NM_014494.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1273/1963	24815620	1,12993	2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24815620C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3817C>T	16.37:g.24815620C>T	ENSP00000379144:p.Arg1273Cys					TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1273C|CTD-2515A14.1_ENST00000568895.1_RNA	p.R1273C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	12	3946	+			1273			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.3817C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.59|19.59	3.855700|3.855700	0.71834|0.71834	0.0|0.0	1.16E-4|1.16E-4	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.14893	.|2.47;2.47	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31888|0.31888	0.0811|0.0811	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.64506	.|0.917;0.926	T|T	0.00330|0.00330	-1.1812|-1.1812	5|10	.|0.52906	.|T	.|0.07	-6.4539|-6.4539	13.8168|13.8168	0.63297|0.63297	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	.|1273;1273	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	V|C	212|1273	.|ENSP00000326900:R1273C;ENSP00000379144:R1273C	.|ENSP00000326900:R1273C	A|R	+|+	2|1	0|0	TNRC6A|TNRC6A	24723121|24723121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.103000|5.103000	0.64578|0.64578	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.378	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		13	43	0	0	0	1	0	13	43				
BIRC2	329	broad.mit.edu	37	11	102239204	102239204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102239204G>A	ENST00000227758.2	+	6	2690	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	BIRC2_ENST00000530675.1_Missense_Mutation_p.V382M|BIRC2_ENST00000532672.1_Missense_Mutation_p.V410M|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	431					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAATGATATTGTGTCAGCACT	0.383																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1291-1293)Gtg>Atg		baculoviral IAP repeat containing 2							115.0	118.0	117.0					11																	102239204		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102239204G>A	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1291G>A	11.37:g.102239204G>A	ENSP00000227758:p.Val431Met					BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.V410M|BIRC2_ENST00000530675.1_Missense_Mutation_p.V382M	p.V431M	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	2690	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	431					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.1291G>A	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638449	0.87760	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.29397	1.59;2.31;1.57;1.58	5.43	5.43	0.79202	.	0.058834	0.64402	D	0.000002	T	0.56396	0.1982	M	0.86953	2.85	0.80722	D	1	P	0.52692	0.955	P	0.60286	0.872	T	0.63211	-0.6688	10	0.87932	D	0	-32.8856	12.5733	0.56349	0.0761:0.0:0.9239:0.0	.	431	Q13490	BIRC2_HUMAN	M	382;93;431;431;410	ENSP00000431723:V382M;ENSP00000433851:V93M;ENSP00000227758:V431M;ENSP00000434979:V410M	ENSP00000227758:V431M	V	+	1	0	BIRC2	101744414	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.557000	0.82243	2.551000	0.86045	0.484000	0.47621	GTG		0.383	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		47	61	0	0	0	1	0	47	61				
KIAA0513	9764	broad.mit.edu	37	16	85100902	85100902	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85100902C>T	ENST00000566428.1	+	2	856	c.225C>T	c.(223-225)aaC>aaT	p.N75N	KIAA0513_ENST00000258180.3_Silent_p.N75N|KIAA0513_ENST00000567328.1_Silent_p.N75N|KIAA0513_ENST00000538274.1_Silent_p.N75N			O60268	K0513_HUMAN	KIAA0513	75						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCTCCTCCAACGAGTCCTTCT	0.587																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(223-225)aaC>aaT		KIAA0513							71.0	55.0	60.0					16																	85100902		2199	4300	6499	SO:0001819	synonymous_variant	9764					cytoplasm		g.chr16:85100902C>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.225C>T	16.37:g.85100902C>T						KIAA0513_ENST00000258180.3_Silent_p.N75N|KIAA0513_ENST00000567328.1_Silent_p.N75N|KIAA0513_ENST00000538274.1_Silent_p.N75N	p.N75N			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	856	+			75					B4DSS5|D3DUM2|Q8N6G0	Silent	SNP	ENST00000566428.1	37	c.225C>T	CCDS32499.1																																																																																				0.587	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		5	51	0	0	0	1	0	5	51				
SH3BP4	23677	broad.mit.edu	37	2	235950399	235950399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:235950399C>T	ENST00000409212.1	+	4	1493	c.986C>T	c.(985-987)gCt>gTt	p.A329V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.A329V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.A329V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	329					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCGGGGGTGCTGTCCAGCTT	0.632																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(985-987)gCt>gTt		SH3-domain binding protein 4							32.0	36.0	35.0					2																	235950399		2202	4300	6502	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950399C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.986C>T	2.37:g.235950399C>T	ENSP00000386862:p.Ala329Val					SH3BP4_ENST00000392011.2_Missense_Mutation_p.A329V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.A329V	p.A329V			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1493	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	329					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.986C>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437378	0.25900	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.44881	0.91;0.91;0.91	5.79	5.79	0.91817	ZU5 (1);	0.311639	0.38005	N	0.001848	T	0.44993	0.1320	M	0.61703	1.905	0.45515	D	0.998471	B;B	0.19817	0.039;0.039	B;B	0.18561	0.022;0.022	T	0.25363	-1.0134	10	0.37606	T	0.19	-31.0008	18.6073	0.91271	0.0:1.0:0.0:0.0	.	329;329	A8K594;Q9P0V3	.;SH3B4_HUMAN	V	329	ENSP00000375867:A329V;ENSP00000386862:A329V;ENSP00000340237:A329V	ENSP00000340237:A329V	A	+	2	0	SH3BP4	235615138	0.998000	0.40836	0.913000	0.36048	0.163000	0.22366	3.879000	0.56138	2.731000	0.93534	0.650000	0.86243	GCT		0.632	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			13	23	0	0	0	1	0	13	23				
MACROD1	28992	broad.mit.edu	37	11	63884783	63884783	+	Intron	SNP	C	C	T	rs140908634		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884783C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Silent_p.A348A	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CACGGGCGGCCGTGGTCAACG	0.627																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(1042-1044)gcC>gcT		fibronectin leucine rich transmembrane protein 1		C	,	1,4401	2.1+/-5.4	0,1,2200	51.0	52.0	52.0		1044,	-1.5	0.9	11	dbSNP_134	52	0,8594		0,0,4297	no	coding-synonymous,intron	FLRT1,MACROD1	NM_013280.4,NM_014067.3	,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,	348/675,	63884783	1,12995	2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884783C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33927G>A	11.37:g.63884783C>T						MACROD1_ENST00000255681.6_Intron	p.A348A	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	2087	+			320			LRRCT.		Q9UH96	Silent	SNP	ENST00000255681.6	37	c.1044C>T	CCDS8056.1																																																																																				0.627	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		16	26	0	0	0	1	0	16	26				
KCNH3	23416	broad.mit.edu	37	12	49950198	49950198	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950198G>A	ENST00000257981.6	+	13	2774	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	838					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAGCCCAAGTTCTCTTTCC	0.617																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2512-2514)aaG>aaA		potassium voltage-gated channel, subfamily H (eag-related), member 3							111.0	107.0	108.0					12																	49950198		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49950198G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2514G>A	12.37:g.49950198G>A							p.K838K	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			13	2774	+			838					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.2514G>A	CCDS8786.1																																																																																				0.617	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		32	59	0	0	0	1	0	32	59				
PRDM9	56979	broad.mit.edu	37	5	23524486	23524486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23524486G>A	ENST00000296682.3	+	10	1176	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	332	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAACCTGGTGGCCTTCCAGTA	0.527										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(994-996)Gcc>Acc		PR domain containing 9							70.0	70.0	70.0					5																	23524486		1895	4090	5985	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524486G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.994G>A	5.37:g.23524486G>A	ENSP00000296682:p.Ala332Thr	HNSCC(3;0.000094)					p.A332T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			10	1176	+			332			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.994G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827323	0.90955	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.72725	-0.68	4.23	4.23	0.50019	SET domain (2);	.	.	.	.	D	0.84275	0.5436	M	0.85710	2.77	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.86830	0.2010	9	0.87932	D	0	-9.4971	12.4978	0.55937	0.0:0.0:1.0:0.0	.	332	Q9NQV7	PRDM9_HUMAN	T	332;126	ENSP00000296682:A332T	ENSP00000253473:A126T	A	+	1	0	PRDM9	23560243	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.129000	0.64739	2.080000	0.62538	0.597000	0.82753	GCC		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		19	36	0	0	0	1	0	19	36				
SUV420H1	51111	broad.mit.edu	37	11	67939085	67939085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67939085C>T	ENST00000304363.4	-	7	1098	c.745G>A	c.(745-747)Gac>Aac	p.D249N	SUV420H1_ENST00000402789.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402185.2_Missense_Mutation_p.D226N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.D249N|SUV420H1_ENST00000405515.1_Missense_Mutation_p.D249N	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	249	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.D249N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACTGAAGTCGTTTTCTCCA	0.413																																						ENST00000304363.4																			1	Substitution - Missense(1)	p.D249N(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(745-747)Gac>Aac		suppressor of variegation 4-20 homolog 1 (Drosophila)							129.0	128.0	128.0					11																	67939085		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67939085C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.745G>A	11.37:g.67939085C>T	ENSP00000305899:p.Asp249Asn					SUV420H1_ENST00000405515.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402789.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402185.2_Missense_Mutation_p.D226N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.D249N	p.D249N	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			7	1098	-			249			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.745G>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139032	0.94560	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	5.73	4.82	0.62117	SET domain (2);	0.133067	0.64402	N	0.000002	D	0.90017	0.6883	L	0.52011	1.625	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.999;0.343	D;D;D;B	0.91635	0.994;0.999;0.994;0.145	D	0.91014	0.4852	10	0.72032	D	0.01	-32.9519	15.2633	0.73640	0.0:0.9324:0.0:0.0676	.	226;249;249;249	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	N	249;249;249;249;226	ENSP00000305899:D249N;ENSP00000385965:D249N;ENSP00000385640:D249N;ENSP00000385005:D249N;ENSP00000384724:D226N	ENSP00000305899:D249N	D	-	1	0	SUV420H1	67695661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.552000	0.49463	0.655000	0.94253	GAC		0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		5	60	0	0	0	1	0	5	60				
BRWD3	254065	broad.mit.edu	37	X	79932253	79932253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932253C>A	ENST00000373275.4	-	41	5480	c.5264G>T	c.(5263-5265)aGg>aTg	p.R1755M	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1755					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAAAACAGTCCTCCTGCCTTG	0.403																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(5263-5265)aGg>aTg		bromodomain and WD repeat domain containing 3							101.0	82.0	89.0					X																	79932253		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932253C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5264G>T	X.37:g.79932253C>A	ENSP00000362372:p.Arg1755Met						p.R1755M	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5480	-			1755					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5264G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109736	0.37242	.	.	ENSG00000165288	ENST00000373275	T	0.77620	-1.11	4.1	4.1	0.47936	.	0.050087	0.85682	D	0.000000	T	0.80854	0.4703	L	0.29908	0.895	0.58432	D	0.99999	D	0.76494	0.999	D	0.74674	0.984	T	0.79960	-0.1583	9	.	.	.	-9.5962	16.1088	0.81244	0.0:1.0:0.0:0.0	.	1755	Q6RI45	BRWD3_HUMAN	M	1755	ENSP00000362372:R1755M	.	R	-	2	0	BRWD3	79818909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.882000	0.75589	2.056000	0.61249	0.436000	0.28706	AGG		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		10	56	1	0	4.68919e-08	1	5.58064e-08	10	56				
DOCK7	85440	broad.mit.edu	37	1	62979117	62979117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62979117G>T	ENST00000340370.5	-	32	4204	c.4187C>A	c.(4186-4188)cCt>cAt	p.P1396H	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1427					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTCTCACCAGGAGGAGAAGC	0.413																																						ENST00000340370.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(4186-4188)cCt>cAt		dedicator of cytokinesis 7							79.0	80.0	79.0					1																	62979117		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62979117G>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4187C>A	1.37:g.62979117G>T	ENSP00000340742:p.Pro1396His					DOCK7_ENST00000251157.5_Intron	p.P1396H	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN			32	4204	-			1427					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.4187C>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279607	0.40294	.	.	ENSG00000116641	ENST00000371140;ENST00000340370	T	0.46063	0.88	4.32	2.39	0.29439	.	1.211560	0.06097	N	0.664649	T	0.33527	0.0866	L	0.29908	0.895	0.09310	N	0.999999	B	0.24963	0.115	B	0.31101	0.124	T	0.36625	-0.9740	10	0.49607	T	0.09	.	5.3873	0.16224	0.2039:0.1713:0.6247:0.0	.	1396	Q96N67-5	.	H	1427;1396	ENSP00000340742:P1396H	ENSP00000340742:P1396H	P	-	2	0	DOCK7	62751705	0.007000	0.16637	0.013000	0.15412	0.792000	0.44763	0.612000	0.24283	0.542000	0.28846	0.563000	0.77884	CCT		0.413	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		4	36	1	0	1.23904e-05	1	1.39987e-05	4	36				
FRMPD4	9758	broad.mit.edu	37	X	12736536	12736536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12736536G>A	ENST00000380682.1	+	16	4097	c.3591G>A	c.(3589-3591)aaG>aaA	p.K1197K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1197					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTTGGCCAAGCGGATGTCAT	0.577																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3589-3591)aaG>aaA		FERM and PDZ domain containing 4							128.0	118.0	121.0					X																	12736536		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736536G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3591G>A	X.37:g.12736536G>A							p.K1197K	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	4097	+			1197					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.3591G>A	CCDS35201.1																																																																																				0.577	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		16	160	0	0	0	1	0	16	160				
ATP1A2	477	broad.mit.edu	37	1	160097377	160097377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160097377C>T	ENST00000361216.3	+	8	873	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R262W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	262					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGAGACCGGACGGTGAT	0.592																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(784-786)Cgg>Tgg		ATPase, Na+/K+ transporting, alpha 2 polypeptide							82.0	72.0	76.0					1																	160097377		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160097377C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.784C>T	1.37:g.160097377C>T	ENSP00000354490:p.Arg262Trp					ATP1A2_ENST00000392233.3_Missense_Mutation_p.R262W|ATP1A2_ENST00000472488.1_3'UTR	p.R262W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		8	873	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		262					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.784C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141912	0.94560	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.88509	-2.39;-2.39	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.056793	0.64402	D	0.000001	D	0.94542	0.8242	M	0.92880	3.355	0.58432	D	0.999998	D;D	0.63880	0.993;0.993	P;P	0.59357	0.706;0.856	D	0.95656	0.8711	10	0.87932	D	0	.	17.1782	0.86846	0.0:1.0:0.0:0.0	.	107;262	B4DHD7;P50993	.;AT1A2_HUMAN	W	107;262;262	ENSP00000354490:R262W;ENSP00000376066:R262W	ENSP00000354490:R262W	R	+	1	2	ATP1A2	158364001	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.525000	0.45598	2.410000	0.81850	0.561000	0.74099	CGG		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		24	22	0	0	0	1	0	24	22				
MRPL10	124995	broad.mit.edu	37	17	45904016	45904016	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45904016G>T	ENST00000351111.2	-	4	524	c.519C>A	c.(517-519)ttC>ttA	p.F173L	MRPL10_ENST00000290208.7_Missense_Mutation_p.F183L|MRPL10_ENST00000414011.1_Missense_Mutation_p.F183L	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	173					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGCGGCAGGAATGGCACAG	0.557																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(547-549)ttC>ttA		mitochondrial ribosomal protein L10							73.0	68.0	70.0					17																	45904016		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904016G>T	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.519C>A	17.37:g.45904016G>T	ENSP00000324100:p.Phe173Leu					MRPL10_ENST00000351111.2_Missense_Mutation_p.F173L|MRPL10_ENST00000414011.1_Missense_Mutation_p.F183L	p.F183L			Q7Z7H8	RM10_HUMAN			4	1001	-			173					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.549C>A	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	1.789	-0.480036	0.04383	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.39592	1.07;1.07;1.07	5.62	5.62	0.85841	.	0.218962	0.47852	D	0.000219	T	0.42108	0.1188	M	0.72479	2.2	0.32380	N	0.554673	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.47971	-0.9075	10	0.30078	T	0.28	-13.9654	12.1784	0.54198	0.0:0.0:0.8295:0.1705	.	173;183	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	173;183;183	ENSP00000324100:F173L;ENSP00000290208:F183L;ENSP00000395870:F183L	ENSP00000290208:F183L	F	-	3	2	MRPL10	43259015	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	1.603000	0.36794	2.657000	0.90304	0.561000	0.74099	TTC		0.557	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		24	39	1	0	1.1804e-14	1	1.50872e-14	24	39				
LPHN3	23284	broad.mit.edu	37	4	62758588	62758588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62758588C>T	ENST00000514591.1	+	9	1820	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	LPHN3_ENST00000507164.1_Silent_p.S565S|LPHN3_ENST00000511324.1_Silent_p.S565S|LPHN3_ENST00000507625.1_Silent_p.S565S|LPHN3_ENST00000514996.1_Silent_p.S497S|LPHN3_ENST00000504896.1_Silent_p.S497S|LPHN3_ENST00000508946.1_Silent_p.S497S|LPHN3_ENST00000512091.2_Silent_p.S497S|LPHN3_ENST00000506746.1_Silent_p.S565S|LPHN3_ENST00000545650.1_Silent_p.S497S|LPHN3_ENST00000509896.1_Silent_p.S565S|LPHN3_ENST00000514157.1_Silent_p.S497S|LPHN3_ENST00000506700.1_Silent_p.S497S|LPHN3_ENST00000508693.1_Silent_p.S565S|LPHN3_ENST00000506720.1_Silent_p.S565S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	497					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCGAAGAGAGCTGTGAGGCTG	0.517																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1489-1491)agC>agT		latrophilin 3							70.0	67.0	68.0					4																	62758588		1929	4137	6066	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758588C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1491C>T	4.37:g.62758588C>T						LPHN3_ENST00000504896.1_Silent_p.S497S|LPHN3_ENST00000514996.1_Silent_p.S497S|LPHN3_ENST00000506746.1_Silent_p.S565S|LPHN3_ENST00000507625.1_Silent_p.S565S|LPHN3_ENST00000514591.1_Silent_p.S497S|LPHN3_ENST00000508693.1_Silent_p.S565S|LPHN3_ENST00000506720.1_Silent_p.S565S|LPHN3_ENST00000506700.1_Silent_p.S497S|LPHN3_ENST00000508946.1_Silent_p.S497S|LPHN3_ENST00000514157.1_Silent_p.S497S|LPHN3_ENST00000507164.1_Silent_p.S565S|LPHN3_ENST00000511324.1_Silent_p.S565S|LPHN3_ENST00000545650.1_Silent_p.S497S|LPHN3_ENST00000509896.1_Silent_p.S565S	p.S497S			Q9HAR2	LPHN3_HUMAN			9	2238	+			497					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1491C>T	CCDS54768.1																																																																																				0.517	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			11	19	0	0	0	1	0	11	19				
POLR2A	5430	broad.mit.edu	37	17	7405278	7405278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7405278G>T	ENST00000322644.6	+	15	2808	c.2409G>T	c.(2407-2409)aaG>aaT	p.K803N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	803					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTGGCTTCAAGCACCGGACTC	0.547																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2407-2409)aaG>aaT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							85.0	74.0	78.0					17																	7405278		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405278G>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2409G>T	17.37:g.7405278G>T	ENSP00000314949:p.Lys803Asn						p.K803N	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			15	2808	+		Prostate(122;0.173)	803					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2409G>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592469	0.46214	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.76060	-0.99	5.82	4.66	0.58398	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	L	0.43646	1.37	0.80722	D	1	B	0.16166	0.016	B	0.25405	0.06	T	0.66806	-0.5830	10	0.87932	D	0	-13.7474	10.968	0.47424	0.158:0.0:0.842:0.0	.	803	P24928	RPB1_HUMAN	N	759;803	ENSP00000314949:K803N	ENSP00000314949:K803N	K	+	3	2	SLC35G6	7346002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.313000	0.43735	2.761000	0.94854	0.655000	0.94253	AAG		0.547	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		16	40	1	0	5.03518e-11	1	6.25324e-11	16	40				
LY6K	54742	broad.mit.edu	37	8	143784766	143784766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143784766G>A	ENST00000292430.6	+	3	892	c.475G>A	c.(475-477)Gca>Aca	p.A159T	LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.A217T|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	159						anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCCTCCATTGCAGCCGGCCT	0.577																																						ENST00000292430.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10						c.(475-477)Gca>Aca		lymphocyte antigen 6 complex, locus K							51.0	48.0	49.0					8																	143784766		2203	4300	6503	SO:0001583	missense	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143784766G>A	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.475G>A	8.37:g.143784766G>A	ENSP00000292430:p.Ala159Thr					CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.A217T|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR	p.A159T			Q17RY6	LY6K_HUMAN			3	892	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		159					G3V116|O15227|Q9BVD7	Missense_Mutation	SNP	ENST00000292430.6	37	c.475G>A	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054395	0.19907	.	.	ENSG00000160886	ENST00000292430	.	.	.	2.83	-5.65	0.02459	.	.	.	.	.	T	0.16171	0.0389	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.20240	-1.0281	8	0.27082	T	0.32	.	0.3431	0.00337	0.3123:0.1341:0.2813:0.2722	.	159	Q17RY6	LY6K_HUMAN	T	217	.	ENSP00000292430:A217T	A	+	1	0	LY6K	143781768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.554000	0.00433	-1.953000	0.01026	-0.136000	0.14681	GCA		0.577	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		9	19	0	0	0	1	0	9	19				
SPHKAP	80309	broad.mit.edu	37	2	228882782	228882782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228882782C>T	ENST00000392056.3	-	7	2834	c.2788G>A	c.(2788-2790)Gcg>Acg	p.A930T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A930T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AATTCTTCCGCAAAGTCTGTA	0.473																																						ENST00000392056.3																			1	Substitution - Missense(1)	p.A930T(1)	haematopoietic_and_lymphoid_tissue(1)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2788-2790)Gcg>Acg		SPHK1 interactor, AKAP domain containing							194.0	175.0	182.0					2																	228882782		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882782C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2788G>A	2.37:g.228882782C>T	ENSP00000375909:p.Ala930Thr					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930T	p.A930T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2834	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	930			PKA-RII subunit binding domain (By similarity).		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2788G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142649	0.77888	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.27402	1.69;1.67	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61058	-0.7139	10	0.87932	D	0	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	930;930	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	930	ENSP00000375909:A930T;ENSP00000339886:A930T	ENSP00000339886:A930T	A	-	1	0	SPHKAP	228591026	1.000000	0.71417	0.998000	0.56505	0.400000	0.30750	7.194000	0.77789	2.894000	0.99253	0.655000	0.94253	GCG		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		12	135	0	0	0	1	0	12	135				
ABCC3	8714	broad.mit.edu	37	17	48761367	48761367	+	Missense_Mutation	SNP	C	C	A	rs141762939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761367C>A	ENST00000285238.8	+	28	4092	c.4012C>A	c.(4012-4014)Cgc>Agc	p.R1338S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1338	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TTGCCTGTTCCGCATCCTGGA	0.622																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(4012-4014)Cgc>Agc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						53.0	50.0	51.0					17																	48761367		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48761367C>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4012C>A	17.37:g.48761367C>A	ENSP00000285238:p.Arg1338Ser						p.R1338S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		28	4092	+			1338			ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.4012C>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.093669	0.76870	.	.	ENSG00000108846	ENST00000285238	D	0.91996	-2.95	5.23	3.06	0.35304	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96476	0.9352	10	0.87932	D	0	-18.6025	13.3909	0.60823	0.3886:0.6114:0.0:0.0	.	1338	O15438	MRP3_HUMAN	S	1338	ENSP00000285238:R1338S	ENSP00000285238:R1338S	R	+	1	0	ABCC3	46116366	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.303000	0.33470	1.309000	0.44985	0.651000	0.88453	CGC		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	54	1	0	3.59834e-05	1	4.01776e-05	5	54				
PRPF4B	8899	broad.mit.edu	37	6	4032437	4032437	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4032437G>T	ENST00000337659.6	+	2	786	c.686G>T	c.(685-687)aGa>aTa	p.R229I	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R215I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	229	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCATCCAAAAGAAGTAAGTCT	0.383																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(685-687)aGa>aTa		pre-mRNA processing factor 4B							128.0	140.0	136.0					6																	4032437		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032437G>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.686G>T	6.37:g.4032437G>T	ENSP00000337194:p.Arg229Ile					PRPF4B_ENST00000538861.1_Missense_Mutation_p.R215I	p.R229I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	786	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	229			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.686G>T	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324023	0.60634	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.71341	-0.56;-0.48	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	L	0.43152	1.355	0.58432	D	0.999996	B	0.28512	0.214	B	0.23018	0.043	T	0.54977	-0.8212	10	0.46703	T	0.11	.	13.8123	0.63270	0.073:0.0:0.927:0.0	.	229	Q13523	PRP4B_HUMAN	I	229;215	ENSP00000337194:R229I;ENSP00000439331:R215I	ENSP00000337194:R229I	R	+	2	0	PRPF4B	3977436	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.082000	0.64450	2.618000	0.88619	0.563000	0.77884	AGA		0.383	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			72	128	1	0	3.13743e-37	1	4.22555e-37	72	128				
AP2B1	163	broad.mit.edu	37	17	33966767	33966767	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33966767T>C	ENST00000262325.7	+	11	1978	c.1425T>C	c.(1423-1425)gaT>gaC	p.D475D	AP2B1_ENST00000312678.8_Silent_p.D475D|AP2B1_ENST00000592545.1_Silent_p.D437D|AP2B1_ENST00000538556.1_Silent_p.D418D|AP2B1_ENST00000589344.1_Silent_p.D475D|AP2B1_ENST00000537622.2_Silent_p.D475D|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	475					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTTTTCACGATGAAAGCACCC	0.413																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1423-1425)gaT>gaC		adaptor-related protein complex 2, beta 1 subunit							93.0	91.0	92.0					17																	33966767		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33966767T>C	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1425T>C	17.37:g.33966767T>C						AP2B1_ENST00000592545.1_Silent_p.D437D|AP2B1_ENST00000537622.2_Silent_p.D475D|AP2B1_ENST00000538556.1_Silent_p.D418D|AP2B1_ENST00000312678.8_Silent_p.D475D|AP2B1_ENST00000589344.1_Silent_p.D475D|AP2B1_ENST00000545922.2_3'UTR	p.D475D	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	11	1978	+		Ovarian(249;0.17)	475					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.1425T>C	CCDS32622.1																																																																																				0.413	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			5	69	0	0	0	1	0	5	69				
CD33	945	broad.mit.edu	37	19	51728765	51728765	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51728765G>T	ENST00000262262.4	+	2	350	c.329G>T	c.(328-330)aGg>aTg	p.R110M	CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R110M	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	110	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GACGCCAGGAGGAGGGATAAT	0.512																																						ENST00000262262.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(328-330)aGg>aTg		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						55.0	57.0	56.0					19																	51728765		2202	4299	6501	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728765G>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.329G>T	19.37:g.51728765G>T	ENSP00000262262:p.Arg110Met					CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R110M	p.R110M	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	350	+		all_neural(266;0.0199)	110			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.329G>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	8.922	0.961376	0.18583	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.65549	-0.16;-0.16	3.49	-5.96	0.02234	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.123250	0.07071	U	0.835403	T	0.47432	0.1445	N	0.25201	0.72	0.09310	N	1	B;B	0.32893	0.389;0.236	B;B	0.42522	0.39;0.262	T	0.50775	-0.8788	10	0.32370	T	0.25	.	5.8106	0.18463	0.6258:0.0:0.2221:0.1521	.	110;110	F8WAL2;P20138	.;CD33_HUMAN	M	110	ENSP00000262262:R110M;ENSP00000375673:R110M	ENSP00000262262:R110M	R	+	2	0	CD33	56420577	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.897000	0.04110	-1.110000	0.02992	0.655000	0.94253	AGG		0.512	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		7	52	1	0	8.12818e-05	1	8.99451e-05	7	52				
PDHA2	5161	broad.mit.edu	37	4	96761689	96761689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761689C>T	ENST00000295266.4	+	1	451	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	130					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACTTTCTGTCCGATCCATTCT	0.512																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(388-390)Cga>Tga		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						102.0	91.0	95.0					4																	96761689		2203	4300	6503	SO:0001587	stop_gained	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761689C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.388C>T	4.37:g.96761689C>T	ENSP00000295266:p.Arg130*						p.R130*	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	451	+		Hepatocellular(203;0.114)	130					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	c.388C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562225	0.45694	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.77	2.74	0.32292	.	0.316194	0.28252	N	0.016030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-25.1125	7.5867	0.27998	0.4086:0.4459:0.1455:0.0	.	.	.	.	X	130	.	ENSP00000295266:R130X	R	+	1	2	PDHA2	96980712	0.196000	0.23350	0.000000	0.03702	0.112000	0.19704	2.099000	0.41767	0.508000	0.28173	0.467000	0.42956	CGA		0.512	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			16	50	0	0	0	1	0	16	50				
SYNJ1	8867	broad.mit.edu	37	21	34072157	34072157	+	Missense_Mutation	SNP	C	C	A	rs375831365		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34072157C>A	ENST00000322229.7	-	3	469	c.470G>T	c.(469-471)aGa>aTa	p.R157I	SYNJ1_ENST00000382499.2_Missense_Mutation_p.R196I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R196I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R157I			O43426	SYNJ1_HUMAN	synaptojanin 1	157	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCAGAAAAATCTATTATCAGT	0.383																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(586-588)aGa>aTa		synaptojanin 1							49.0	50.0	50.0					21																	34072157		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34072157C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.470G>T	21.37:g.34072157C>A	ENSP00000322234:p.Arg157Ile					SYNJ1_ENST00000382491.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R196I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R157I	p.R196I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			4	586	-			157			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.587G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052543	0.93793	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.6	5.6	0.85130	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.999;0.999	D;D;D;D;D	0.81914	0.995;0.979;0.994;0.986;0.974	T	0.82657	-0.0349	10	0.87932	D	0	.	19.6209	0.95654	0.0:1.0:0.0:0.0	.	157;196;157;157;157	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	157;157;196;196;157;157;157	ENSP00000371931:R157I;ENSP00000349903:R157I;ENSP00000371939:R196I;ENSP00000409667:R196I;ENSP00000322234:R157I;ENSP00000413649:R157I;ENSP00000412707:R157I	ENSP00000322234:R157I	R	-	2	0	SYNJ1	32994028	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.375000	0.79646	2.646000	0.89796	0.585000	0.79938	AGA		0.383	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				13	30	1	0	1.05317e-09	1	1.28483e-09	13	30				
SH3BGR	6450	broad.mit.edu	37	21	40847093	40847093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40847093G>T	ENST00000333634.4	+	3	531	c.453G>T	c.(451-453)gaG>gaT	p.E151D	SH3BGR_ENST00000380634.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380631.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380637.3_Missense_Mutation_p.E40D|SH3BGR_ENST00000458295.1_Missense_Mutation_p.E40D	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	151					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CAAAAGAAGAGAATATTATTT	0.363																																						ENST00000333634.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(451-453)gaG>gaT		SH3 domain binding glutamic acid-rich protein							105.0	100.0	102.0					21																	40847093		2203	4299	6502	SO:0001583	missense	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40847093G>T		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.453G>T	21.37:g.40847093G>T	ENSP00000332513:p.Glu151Asp					SH3BGR_ENST00000380634.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380637.3_Missense_Mutation_p.E40D|SH3BGR_ENST00000380631.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000458295.1_Missense_Mutation_p.E40D	p.E151D	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	3	531	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	151					A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	c.453G>T	CCDS13666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.232|8.232	0.804854|0.804854	0.16467|0.16467	.|.	.|.	ENSG00000185437|ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000458295;ENST00000440288;ENST00000380631;ENST00000333634|ENST00000452550	T;T;T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11|.	5.74|5.74	2.48|2.48	0.30137|0.30137	Thioredoxin-like fold (2);|.	0.089610|0.089610	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.08582|.	0.0213|.	N|N	0.01446|0.01446	-0.86|-0.86	0.26583|0.26583	N|N	0.973349|0.973349	B|.	0.20550|.	0.046|.	B|.	0.28139|.	0.086|.	T|.	0.32161|.	-0.9917|.	10|.	0.13470|0.11182	T|T	0.59|0.66	.|.	7.556|7.556	0.27824|0.27824	0.3567:0.0:0.6433:0.0|0.3567:0.0:0.6433:0.0	.|.	151|.	P55822|.	SH3BG_HUMAN|.	D|X	40;40;40;40;40;151|80	ENSP00000370011:E40D;ENSP00000370008:E40D;ENSP00000404980:E40D;ENSP00000401572:E40D;ENSP00000370005:E40D;ENSP00000332513:E151D|.	ENSP00000332513:E151D|ENSP00000405675:E80X	E|E	+|+	3|1	2|0	SH3BGR|SH3BGR	39768963|39768963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.201000|1.201000	0.32259|0.32259	0.762000|0.762000	0.33152|0.33152	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.363	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		4	44	1	0	0.000602214	1	0.000649039	4	44				
ZSCAN18	65982	broad.mit.edu	37	19	58596375	58596375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58596375C>T	ENST00000240727.6	-	7	1609	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E268K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E404K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E460K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	404					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCGGCTCGTCAGCCCCA	0.736																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1210-1212)Gag>Aag		zinc finger and SCAN domain containing 18							9.0	11.0	10.0					19																	58596375		2184	4255	6439	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596375C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1210G>A	19.37:g.58596375C>T	ENSP00000240727:p.Glu404Lys					ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E404K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E268K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E460K	p.E404K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1609	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	404					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1210G>A	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	8.752	0.921478	0.17982	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.07688	3.17;3.17	3.41	-0.0386	0.13879	.	0.575552	0.14435	N	0.319789	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	1	P;B;P;B	0.41159	0.546;0.373;0.74;0.373	B;B;B;B	0.28305	0.028;0.023;0.088;0.015	T	0.41052	-0.9530	10	0.62326	D	0.03	-9.9862	6.33	0.21264	0.0:0.5439:0.0:0.4561	.	460;268;403;404	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	K	460;404;268	ENSP00000240727:E404K;ENSP00000392653:E268K	ENSP00000240727:E404K	E	-	1	0	ZSCAN18	63288187	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.646000	0.05403	0.088000	0.17205	-0.258000	0.10820	GAG		0.736	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		3	6	0	0	0	1	0	3	6				
PLEKHA2	59339	broad.mit.edu	37	8	38809772	38809772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38809772G>A	ENST00000521746.1	+	7	809	c.575G>A	c.(574-576)cGt>cAt	p.R192H	PLEKHA2_ENST00000420274.1_Missense_Mutation_p.R192H|PLEKHA2_ENST00000388745.4_3'UTR			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	192					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAGGCTGCCGTGCTTCCACT	0.582																																						ENST00000420274.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(574-576)cGt>cAt		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2							61.0	67.0	65.0					8																	38809772		2088	4215	6303	SO:0001583	missense	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38809772G>A	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.575G>A	8.37:g.38809772G>A	ENSP00000430938:p.Arg192His					PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R192H|PLEKHA2_ENST00000388745.4_3'UTR	p.R192H	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		7	809	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	192						Missense_Mutation	SNP	ENST00000521746.1	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	G	17.18	3.322970	0.60634	.	.	ENSG00000169499	ENST00000521746;ENST00000420274;ENST00000535929	T;T	0.12984	2.63;2.63	5.71	4.84	0.62591	.	0.146153	0.64402	N	0.000013	T	0.16514	0.0397	M	0.61703	1.905	0.41443	D	0.987933	P;P	0.49358	0.923;0.923	B;B	0.41332	0.354;0.247	T	0.02042	-1.1224	10	0.72032	D	0.01	.	10.8291	0.46650	0.0873:0.0:0.9127:0.0	.	192;192	Q9HB19;A8K727	PKHA2_HUMAN;.	H	192;192;142	ENSP00000430938:R192H;ENSP00000393860:R192H	ENSP00000393860:R192H	R	+	2	0	PLEKHA2	38928929	0.973000	0.33851	0.882000	0.34594	0.238000	0.25445	1.780000	0.38634	1.423000	0.47198	0.511000	0.50034	CGT		0.582	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623		7	9	0	0	0	1	0	7	9				
KLKB1	3818	broad.mit.edu	37	4	187153431	187153431	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187153431A>T	ENST00000264690.6	+	3	396	c.209A>T	c.(208-210)gAc>gTc	p.D70V	KLKB1_ENST00000513864.1_Missense_Mutation_p.D70V	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	70	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCAATCAATGACATGGAGAAA	0.398																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(208-210)gAc>gTc		kallikrein B, plasma (Fletcher factor) 1							121.0	110.0	114.0					4																	187153431		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187153431A>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.209A>T	4.37:g.187153431A>T	ENSP00000264690:p.Asp70Val					KLKB1_ENST00000513864.1_Missense_Mutation_p.D70V	p.D70V	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	3	396	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	70			Apple 1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.209A>T	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.51|11.51	1.659302|1.659302	0.29515|0.29515	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715|ENST00000511608	D;D;D;D;D|.	0.91945|.	-2.94;-2.48;-2.85;-2.87;-2.42|.	5.25|5.25	4.08|4.08	0.47627|0.47627	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.430659|.	0.23510|.	N|.	0.047419|.	T|T	0.44623|0.44623	0.1302|0.1302	L|L	0.58302|0.58302	1.8|1.8	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.18968|.	0.012;0.032|.	B;B|.	0.25405|.	0.06;0.037|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|5	0.59425|.	D|.	0.04|.	.|.	7.6891|7.6891	0.28557|0.28557	0.9064:0.0:0.0936:0.0|0.9064:0.0:0.0936:0.0	.|.	32;70|.	E7EQA8;P03952|.	.;KLKB1_HUMAN|.	V|S	70;70;32;32;70;32|118	ENSP00000412366:D70V;ENSP00000264690:D70V;ENSP00000415563:D32V;ENSP00000392231:D32V;ENSP00000424469:D70V|.	ENSP00000264690:D70V|.	D|T	+|+	2|1	0|0	KLKB1|KLKB1	187390425|187390425	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	1.477000|1.477000	0.35431|0.35431	1.018000|1.018000	0.39521|0.39521	0.460000|0.460000	0.39030|0.39030	GAC|ACA		0.398	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		19	58	0	0	0	1	0	19	58				
TPTE	7179	broad.mit.edu	37	21	10934119	10934119	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10934119A>G	ENST00000361285.4	-	16	1187	c.858T>C	c.(856-858)agT>agC	p.S286S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.S268S|TPTE_ENST00000342420.5_Splice_Site_p.S248S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	286	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGCTCTTTCACCTAAAATAA	0.303																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e15-1		transmembrane phosphatase with tensin homology							121.0	125.0	123.0					21																	10934119		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934119A>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.857-1T>C	21.37:g.10934119A>G						TPTE_ENST00000342420.5_Splice_Site_p.S248_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S286_splice	p.S268_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	15	1171	-			286			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.802_splice	CCDS13560.2																																																																																				0.303	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Silent	9	180	0	0	0	1	0	9	180				
MAATS1	89876	broad.mit.edu	37	3	119462955	119462955	+	Missense_Mutation	SNP	G	G	A	rs201045322		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119462955G>A	ENST00000273390.5	+	14	1891	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	441						mitochondrion (GO:0005739)											CTGGCTGAGCGCCAGCGGCGG	0.582																																						ENST00000273390.5																			0											c.(1813-1815)cGc>cAc		MYCBP-associated, testis expressed 1							81.0	74.0	76.0					3																	119462955		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119462955G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1814G>A	3.37:g.119462955G>A	ENSP00000273390:p.Arg605His						p.R605H	NM_033364.3	NP_203528.2					14	1891	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1814G>A	CCDS2994.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	35	5.575518	0.96553	.	.	ENSG00000183833	ENST00000273390	T	0.29655	1.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.67608	-0.5627	10	0.72032	D	0.01	-12.6434	19.7305	0.96180	0.0:0.0:1.0:0.0	.	441;543;605	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	H	605	ENSP00000273390:R605H	ENSP00000273390:R605H	R	+	2	0	C3orf15	120945645	1.000000	0.71417	0.847000	0.33407	0.948000	0.59901	9.184000	0.94893	2.663000	0.90544	0.484000	0.47621	CGC		0.582	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		27	35	0	0	0	1	0	27	35				
KCNF1	3754	broad.mit.edu	37	2	11053347	11053347	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053347C>A	ENST00000295082.1	+	1	1285	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	265					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCATCCTCCCCTTCTACGTGA	0.627																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(793-795)ccC>ccA		potassium voltage-gated channel, subfamily F, member 1							72.0	60.0	64.0					2																	11053347		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053347C>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.795C>A	2.37:g.11053347C>A							p.P265P	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1285	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		265					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.795C>A	CCDS1676.1																																																																																				0.627	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		10	30	1	0	0.00010058	1	0.000111121	10	30				
PCDHB17	54661	broad.mit.edu	37	5	140537043	140537043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140537043C>A	ENST00000539533.1	+	1	1467	c.1467C>A	c.(1465-1467)taC>taA	p.Y489*						protocadherin beta 17 pseudogene																		AGGTCACCTACTCGCTGCTGC	0.642																																						ENST00000539533.1																			0											c.(1465-1467)taC>taA																																						SO:0001587	stop_gained	0							g.chr5:140537043C>A	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1467C>A	5.37:g.140537043C>A	ENSP00000438685:p.Tyr489*						p.Y489*							1	1467	+									Nonsense_Mutation	SNP	ENST00000539533.1	37	c.1467C>A		.	.	.	.	.	.	.	.	.	.	C	16.62	3.173213	0.57584	.	.	ENSG00000255622	ENST00000539533	.	.	.	4.98	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4913	0.44752	0.0:0.843:0.0:0.157	.	.	.	.	X	489	.	ENSP00000438685:Y489X	Y	+	3	2	AC005754.1	140517227	0.004000	0.15560	1.000000	0.80357	0.404000	0.30871	0.114000	0.15520	2.482000	0.83794	0.556000	0.70494	TAC		0.642	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				8	76	1	0	5.18039e-06	1	5.91835e-06	8	76				
ZKSCAN3	80317	broad.mit.edu	37	6	28327415	28327415	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28327415G>T	ENST00000377255.3	+	3	349	c.52G>T	c.(52-54)Gac>Tac	p.D18Y	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.D18Y	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	18					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GTCTACAGAAGACCAGATGGA	0.547																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(52-54)Gac>Tac		zinc finger with KRAB and SCAN domains 3							85.0	87.0	86.0					6																	28327415		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327415G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.52G>T	6.37:g.28327415G>T	ENSP00000366465:p.Asp18Tyr					ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.D18Y|ZKSCAN3_ENST00000341464.5_Intron	p.D18Y	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			3	349	+			18					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.52G>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.871987	0.33069	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.05258	3.47;3.47	3.83	2.03	0.26663	.	.	.	.	.	T	0.04407	0.0121	N	0.19112	0.55	0.48236	D	0.999611	D	0.71674	0.998	P	0.60173	0.87	T	0.42816	-0.9429	9	0.72032	D	0.01	.	8.811	0.34967	0.1938:0.0:0.8062:0.0	.	18	Q9BRR0	ZKSC3_HUMAN	Y	18	ENSP00000252211:D18Y;ENSP00000366465:D18Y	ENSP00000252211:D18Y	D	+	1	0	ZKSCAN3	28435394	0.998000	0.40836	0.096000	0.21009	0.038000	0.13279	0.488000	0.22371	0.409000	0.25649	0.557000	0.71058	GAC		0.547	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		5	107	1	0	0.00116845	1	0.00124821	5	107				
AREL1	9870	broad.mit.edu	37	14	75139581	75139581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75139581G>A	ENST00000356357.4	-	11	1890	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	459					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTTTGGAATGTGGTCTTTTC	0.448																																						ENST00000356357.4																			0											c.(1375-1377)Cat>Tat		apoptosis resistant E3 ubiquitin protein ligase 1							157.0	149.0	152.0					14																	75139581		1924	4133	6057	SO:0001583	missense	9870							g.chr14:75139581G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1375C>T	14.37:g.75139581G>A	ENSP00000348714:p.His459Tyr					AREL1_ENST00000557401.1_5'UTR	p.H459Y	NM_001039479.1	NP_001034568.1					11	1890	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1375C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286396	0.59867	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.50548	0.74;0.74	5.73	5.73	0.89815	HECT (1);	0.048016	0.85682	D	0.000000	T	0.40247	0.1109	L	0.43598	1.365	0.50632	D	0.999882	P;B	0.42296	0.775;0.02	B;B	0.38327	0.271;0.019	T	0.14559	-1.0468	10	0.25751	T	0.34	.	15.0392	0.71774	0.0:0.0:0.8579:0.1421	.	459;459	O15033-2;O15033	.;K0317_HUMAN	Y	459;298;298	ENSP00000348714:H459Y;ENSP00000452101:H298Y	ENSP00000348714:H459Y	H	-	1	0	KIAA0317	74209334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.595000	0.74109	2.854000	0.98071	0.655000	0.94253	CAT		0.448	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		10	137	0	0	0	1	0	10	137				
DRD3	1814	broad.mit.edu	37	3	113890729	113890729	+	Silent	SNP	G	G	A	rs201156548		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113890729G>A	ENST00000460779.1	-	3	400	c.111C>T	c.(109-111)tgC>tgT	p.C37C	DRD3_ENST00000383673.2_Silent_p.C37C|DRD3_ENST00000295881.7_Silent_p.C37C|DRD3_ENST00000467632.1_Silent_p.C37C	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	37					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGATGAGCGCGCAGTAGGAGA	0.612																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(109-111)tgC>tgT		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	G	,	1,4405	2.1+/-5.4	0,1,2202	62.0	55.0	58.0		111,111	-5.0	0.1	3		58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DRD3	NM_000796.3,NM_033663.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	37/401,37/368	113890729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113890729G>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.111C>T	3.37:g.113890729G>A						DRD3_ENST00000460779.1_Silent_p.C37C|DRD3_ENST00000467632.1_Silent_p.C37C|DRD3_ENST00000295881.7_Silent_p.C37C	p.C37C	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			2	541	-			37					A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.111C>T	CCDS2978.1																																																																																				0.612	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		18	18	0	0	0	1	0	18	18				
PKD1L2	114780	broad.mit.edu	37	16	81181860	81181860	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81181860C>T	ENST00000525539.1	-	0	4855				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCCGGGGACGGGTGTTCTG	0.567																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							54.0	55.0	55.0					16																	81181860		1871	4111	5982			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181860C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181860C>T						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4855	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			25	22	0	0	0	1	0	25	22				
NF1	4763	broad.mit.edu	37	17	29557866	29557866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29557866G>T	ENST00000358273.4	+	24	3503	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	NF1_ENST00000356175.3_Missense_Mutation_p.K1040N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1040					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAGGAATAAGATGGTAGAAT	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(3118-3120)aaG>aaT		neurofibromin 1							46.0	44.0	45.0					17																	29557866		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29557866G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3120G>T	17.37:g.29557866G>T	ENSP00000351015:p.Lys1040Asn	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.K1040N	p.K1040N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	24	3503	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1040					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.3120G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583923	0.65992	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.11385	2.95;3.09;2.78	5.46	3.13	0.36017	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.989;1.0	D;P;D;D	0.91635	0.999;0.893;0.985;0.991	T	0.00975	-1.1494	10	0.54805	T	0.06	.	6.283	0.21017	0.3828:0.0:0.6172:0.0	.	1040;90;1040;1040	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	N	1040;1040;706	ENSP00000351015:K1040N;ENSP00000348498:K1040N;ENSP00000389907:K706N	ENSP00000348498:K1040N	K	+	3	2	NF1	26581992	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	0.561000	0.23515	1.312000	0.45043	0.305000	0.20034	AAG		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		3	21	1	0	0.004672	1	0.0049138	3	21				
SLC10A3	8273	broad.mit.edu	37	X	153717057	153717057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153717057C>T	ENST00000393587.4	-	3	486	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SLC10A3_ENST00000393586.1_Missense_Mutation_p.E130K|SLC10A3_ENST00000263512.4_Missense_Mutation_p.E75K|UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.E75K|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	75					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACTCAAACTCCATCACAGAG	0.632																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(223-225)Gag>Aag		solute carrier family 10, member 3							167.0	130.0	143.0					X																	153717057		2203	4300	6503	SO:0001583	missense	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153717057C>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.223G>A	X.37:g.153717057C>T	ENSP00000377212:p.Glu75Lys					SLC10A3_ENST00000393586.1_Missense_Mutation_p.E130K|SLC10A3_ENST00000369649.4_Missense_Mutation_p.E75K|SLC10A3_ENST00000393587.4_Missense_Mutation_p.E75K	p.E75K	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	721	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		75					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.223G>A	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846614	0.71603	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.7	3.81	0.43845	.	0.000000	0.64402	U	0.000003	T	0.42494	0.1205	M	0.76002	2.32	0.37681	D	0.923492	D;D	0.63880	0.991;0.993	P;P	0.55785	0.656;0.784	T	0.52741	-0.8535	10	0.66056	D	0.02	-16.8822	11.6254	0.51142	0.0:0.6632:0.3368:0.0	.	75;75	Q9BSL2;P09131	.;P3_HUMAN	K	75;130;75;75;75	ENSP00000358663:E75K;ENSP00000377211:E130K;ENSP00000263512:E75K;ENSP00000377212:E75K;ENSP00000395702:E75K	ENSP00000263512:E75K	E	-	1	0	SLC10A3	153370251	0.999000	0.42202	0.965000	0.40720	0.996000	0.88848	3.913000	0.56394	0.944000	0.37579	0.529000	0.55759	GAG		0.632	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		12	134	0	0	0	1	0	12	134				
RIF1	55183	broad.mit.edu	37	2	152292042	152292042	+	Silent	SNP	G	G	A	rs149346205		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152292042G>A	ENST00000243326.5	+	10	1626	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	RIF1_ENST00000428287.2_Silent_p.S381S|RIF1_ENST00000453091.2_Silent_p.S381S|RIF1_ENST00000430328.2_Silent_p.S381S|RIF1_ENST00000433166.2_Intron|RIF1_ENST00000444746.2_Silent_p.S381S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGGCAATTCGTGTCATGTAG	0.368																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1141-1143)tcG>tcA		RAP1 interacting factor homolog (yeast)		G	,,,	0,4406		0,0,2203	239.0	226.0	230.0		1143,1143,1143,1143	-1.1	1.0	2	dbSNP_134	230	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	381/2447,381/2447,381/2447,381/2473	152292042	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152292042G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1143G>A	2.37:g.152292042G>A						RIF1_ENST00000430328.2_Silent_p.S381S|RIF1_ENST00000453091.2_Silent_p.S381S|RIF1_ENST00000433166.2_Intron|RIF1_ENST00000444746.2_Silent_p.S381S|RIF1_ENST00000428287.2_Silent_p.S381S	p.S381S			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	10	1626	+			381					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.1143G>A	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	1.091	-0.664057	0.03428	0.0	1.16E-4	ENSG00000080345	ENST00000414861	.	.	.	4.96	-1.07	0.09968	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27262	-1.0079	4	.	.	.	-3.5006	1.5013	0.02477	0.4211:0.2898:0.1633:0.1259	.	.	.	.	M	373	.	.	V	+	1	0	RIF1	152000288	0.971000	0.33674	0.971000	0.41717	0.119000	0.20118	0.063000	0.14410	0.019000	0.15079	-0.438000	0.05819	GTG		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			79	94	0	0	0	1	0	79	94				
DNMT1	1786	broad.mit.edu	37	19	10270410	10270410	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10270410G>A	ENST00000340748.4	-	16	1391	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	DNMT1_ENST00000359526.4_Silent_p.L402L|DNMT1_ENST00000540357.1_Silent_p.L386L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	386	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AAGATGGACAGCTTCTCATTT	0.542																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1156-1158)Ctg>Ttg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						174.0	152.0	160.0					19																	10270410		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10270410G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1156C>T	19.37:g.10270410G>A						DNMT1_ENST00000540357.1_Silent_p.L386L|DNMT1_ENST00000359526.4_Silent_p.L402L	p.L386L			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		16	1391	-			386			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.1156C>T	CCDS12228.1																																																																																				0.542	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		32	49	0	0	0	1	0	32	49				
ZIK1	284307	broad.mit.edu	37	19	58102102	58102102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58102102C>A	ENST00000597850.1	+	4	1138	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	ZIK1_ENST00000599456.1_Missense_Mutation_p.S253Y|ZIK1_ENST00000536878.2_Missense_Mutation_p.S295Y|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGACAAAACTCCAGCCTTGTT	0.453																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(922-924)tCc>tAc		zinc finger protein interacting with K protein 1							59.0	60.0	60.0					19																	58102102		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58102102C>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.923C>A	19.37:g.58102102C>A	ENSP00000472867:p.Ser308Tyr					ZIK1_ENST00000536878.2_Missense_Mutation_p.S295Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.S253Y|ZIK1_ENST00000307468.4_3'UTR	p.S308Y	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1138	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	308					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.923C>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975323	0.34848	.	.	ENSG00000171649	ENST00000536878;ENST00000307468	T	0.37058	1.22	3.37	-0.688	0.11317	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	M	0.84219	2.685	0.09310	N	1	B;B	0.33044	0.395;0.28	B;B	0.33568	0.143;0.166	T	0.38972	-0.9636	9	0.54805	T	0.06	.	6.842	0.23967	0.2756:0.4332:0.2912:0.0	.	295;308	F5H435;Q3SY52	.;ZIK1_HUMAN	Y	295;308	ENSP00000438487:S295Y	ENSP00000303820:S308Y	S	+	2	0	ZIK1	62793914	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.437000	0.06914	0.193000	0.20303	0.655000	0.94253	TCC		0.453	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		6	36	1	0	0.0215528	1	0.0221649	6	36				
SYNJ2	8871	broad.mit.edu	37	6	158516907	158516907	+	Silent	SNP	G	G	A	rs3749847		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516907G>A	ENST00000355585.4	+	27	4077	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	SYNJ2_ENST00000367122.2_Silent_p.P1289P|SYNJ2_ENST00000367112.1_Silent_p.P419P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1334	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGTACCCCCGAGGAGGAAGA	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15985	0.0		0.0	False		,,,				2504	0.0					ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(4000-4002)ccG>ccA		synaptojanin 2		G	,	1,4405	2.1+/-5.4	0,1,2202	36.0	44.0	41.0		3291,4002	-11.6	0.3	6	dbSNP_107	41	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1097/1260,1334/1497	158516907	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516907G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4002G>A	6.37:g.158516907G>A						SYNJ2_ENST00000367122.2_Silent_p.P1289P|SYNJ2_ENST00000367112.1_Silent_p.P419P	p.P1334P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	4077	+			1334			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.4002G>A	CCDS5254.1																																																																																				0.637	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			29	40	0	0	0	1	0	29	40				
LARP6	55323	broad.mit.edu	37	15	71125092	71125092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125092C>T	ENST00000299213.8	-	3	845	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	259	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCACGATGGCGCACTCCTGG	0.557																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(775-777)Gcc>Acc		La ribonucleoprotein domain family, member 6							66.0	60.0	62.0					15																	71125092		2199	4297	6496	SO:0001583	missense	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125092C>T	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.775G>A	15.37:g.71125092C>T	ENSP00000299213:p.Ala259Thr						p.A259T	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN			3	845	-			259					Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	c.775G>A	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857170	0.91433	.	.	ENSG00000166173	ENST00000299213	T	0.69435	-0.4	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85189	0.1008	10	0.87932	D	0	-27.7599	15.2903	0.73862	0.0:1.0:0.0:0.0	.	259	Q9BRS8	LARP6_HUMAN	T	259	ENSP00000299213:A259T	ENSP00000299213:A259T	A	-	1	0	LARP6	68912146	1.000000	0.71417	0.966000	0.40874	0.984000	0.73092	7.364000	0.79526	2.208000	0.71279	0.555000	0.69702	GCC		0.557	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		15	34	0	0	0	1	0	15	34				
RAPGEF1	2889	broad.mit.edu	37	9	134504591	134504591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134504591G>A	ENST00000372189.3	-	7	863	c.740C>T	c.(739-741)aCg>aTg	p.T247M	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T265M|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.T264M	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	247					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CATCCCAGTCGTCTTGTTTAG	0.572																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(790-792)aCg>aTg		Rap guanine nucleotide exchange factor (GEF) 1							110.0	114.0	112.0					9																	134504591		1958	4135	6093	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134504591G>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.740C>T	9.37:g.134504591G>A	ENSP00000361263:p.Thr247Met					RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.T247M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T265M	p.T264M			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	7	1034	-		Myeloproliferative disorder(178;0.204)	247					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.791C>T	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043256	0.36085	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.38077	1.16;1.16;1.16	5.39	5.39	0.77823	.	0.304021	0.33938	N	0.004410	T	0.53674	0.1811	M	0.70275	2.135	0.41265	D	0.9868	D;D;D	0.67145	0.994;0.994;0.996	P;P;P	0.57468	0.77;0.667;0.821	T	0.48768	-0.9006	10	0.21540	T	0.41	.	18.1456	0.89653	0.0:0.0:1.0:0.0	.	264;247;265	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	M	247;264;141;247;265;227;173;264	ENSP00000361269:T264M;ENSP00000361263:T247M;ENSP00000361264:T265M	ENSP00000266110:T247M	T	-	2	0	RAPGEF1	133494412	1.000000	0.71417	0.792000	0.32020	0.086000	0.17979	8.183000	0.89700	2.525000	0.85131	0.655000	0.94253	ACG		0.572	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		5	78	0	0	0	1	0	5	78				
RBM25	58517	broad.mit.edu	37	14	73578420	73578420	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73578420G>A	ENST00000261973.7	+	16	2487	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	RBM25_ENST00000527432.1_Silent_p.K734K|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	734					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGAAGAAAAGCGTAAACACA	0.423																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2200-2202)aaG>aaA		RNA binding motif protein 25							138.0	132.0	134.0					14																	73578420		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578420G>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2202G>A	14.37:g.73578420G>A						RBM25_ENST00000527432.1_Silent_p.K734K|RBM25_ENST00000532483.1_3'UTR	p.K734K	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	16	2487	+			734					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2202G>A	CCDS32113.1																																																																																				0.423	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		43	71	0	0	0	1	0	43	71				
BRDT	676	broad.mit.edu	37	1	92459650	92459650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92459650G>A	ENST00000362005.3	+	16	2544	c.2126G>A	c.(2125-2127)tGt>tAt	p.C709Y	BRDT_ENST00000402388.1_Missense_Mutation_p.C709Y|BRDT_ENST00000399546.2_Missense_Mutation_p.C709Y|BRDT_ENST00000394530.3_Missense_Mutation_p.C663Y|BRDT_ENST00000370389.2_Missense_Mutation_p.C636Y	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	709					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATAGGATATTGTGTGCAAGAC	0.343																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1906-1908)tGt>tAt		bromodomain, testis-specific							148.0	131.0	137.0					1																	92459650		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92459650G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2126G>A	1.37:g.92459650G>A	ENSP00000354568:p.Cys709Tyr					BRDT_ENST00000399546.2_Missense_Mutation_p.C709Y|BRDT_ENST00000402388.1_Missense_Mutation_p.C709Y|BRDT_ENST00000394530.3_Missense_Mutation_p.C663Y|BRDT_ENST00000362005.3_Missense_Mutation_p.C709Y	p.C636Y	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	15	2831	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	709			Ser-rich.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1907G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	8.667	0.901932	0.17760	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.34;3.29	5.19	3.32	0.38043	.	0.526148	0.16757	N	0.200780	T	0.01558	0.0050	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17465	0.012;0.012;0.022;0.012	B;B;B;B	0.14023	0.01;0.01;0.004;0.007	T	0.44651	-0.9314	10	0.59425	D	0.04	-6.0133	7.5614	0.27853	0.0:0.7442:0.1674:0.0885	.	663;663;713;709	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Y	709;636;709;663;709	ENSP00000354568:C709Y;ENSP00000359416:C636Y;ENSP00000387822:C709Y;ENSP00000378038:C663Y;ENSP00000384051:C709Y	ENSP00000354568:C709Y	C	+	2	0	BRDT	92232238	0.814000	0.29104	0.055000	0.19348	0.004000	0.04260	1.161000	0.31773	0.888000	0.36160	-0.133000	0.14855	TGT		0.343	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		8	142	0	0	0	1	0	8	142				
LMNTD2	256329	broad.mit.edu	37	11	558622	558622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:558622C>T	ENST00000329451.3	-	3	365	c.303G>A	c.(301-303)ccG>ccA	p.P101P	RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000454668.2_5'Flank|RASSF7_ENST00000397583.3_5'Flank|RASSF7_ENST00000344375.4_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		101										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCTTGGGCGGAAGCCCCG	0.667																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(301-303)ccG>ccA		chromosome 11 open reading frame 35							15.0	17.0	16.0					11																	558622		2195	4295	6490	SO:0001819	synonymous_variant	256329							g.chr11:558622C>T																												ENST00000329451.3:c.303G>A	11.37:g.558622C>T						RP11-496I9.1_ENST00000527620.1_RNA	p.P101P	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	365	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	101						Silent	SNP	ENST00000329451.3	37	c.303G>A	CCDS7701.1																																																																																				0.667	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			5	6	0	0	0	1	0	5	6				
SLCO1A2	6579	broad.mit.edu	37	12	21427475	21427475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21427475G>A	ENST00000307378.6	-	15	2441	c.1721C>T	c.(1720-1722)aCa>aTa	p.T574I	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T442I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T574I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T442I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	574					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GTGTAAACATGTGGAATCCAT	0.358																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1720-1722)aCa>aTa		solute carrier organic anion transporter family, member 1A2							95.0	92.0	93.0					12																	21427475		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21427475G>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1721C>T	12.37:g.21427475G>A	ENSP00000305974:p.Thr574Ile					SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T442I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T574I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T442I	p.T574I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			15	2441	-			574					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1721C>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017927	0.54576	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.3	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.165196	0.53938	N	0.000050	T	0.70753	0.3260	H	0.94503	3.545	0.80722	D	1	B	0.33477	0.413	B	0.40677	0.337	T	0.74917	-0.3501	10	0.87932	D	0	.	10.0163	0.42016	0.0962:0.0:0.9038:0.0	.	574	P46721	SO1A2_HUMAN	I	574;574;442;442	ENSP00000305974:T574I;ENSP00000393973:T574I;ENSP00000394854:T442I;ENSP00000439401:T442I	ENSP00000305974:T574I	T	-	2	0	SLCO1A2	21318742	1.000000	0.71417	0.814000	0.32528	0.932000	0.56968	5.680000	0.68168	1.012000	0.39366	0.585000	0.79938	ACA		0.358	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		4	54	0	0	0	1	0	4	54				
PRKAA2	5563	broad.mit.edu	37	1	57161814	57161814	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57161814C>A	ENST00000371244.4	+	6	836	c.770C>A	c.(769-771)gCa>gAa	p.A257E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CTGAAACGAGCAACTATCAAA	0.378																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(769-771)gCa>gAa		protein kinase, AMP-activated, alpha 2 catalytic subunit							156.0	156.0	156.0					1																	57161814		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161814C>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.770C>A	1.37:g.57161814C>A	ENSP00000360290:p.Ala257Glu						p.A257E	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	836	+			257			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.770C>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576260	0.86645	.	.	ENSG00000162409	ENST00000371244	T	0.25250	1.81	5.98	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144227	0.64402	D	0.000007	T	0.46367	0.1389	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31943	-0.9925	10	0.62326	D	0.03	-10.0423	16.7073	0.85375	0.0:0.8708:0.1292:0.0	.	257	P54646	AAPK2_HUMAN	E	257	ENSP00000360290:A257E	ENSP00000360290:A257E	A	+	2	0	PRKAA2	56934402	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.732000	0.68563	2.838000	0.97847	0.655000	0.94253	GCA		0.378	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		18	228	1	0	1.67942e-08	1	2.01326e-08	18	228				
ANKRD12	23253	broad.mit.edu	37	18	9258860	9258860	+	Silent	SNP	C	C	T	rs149491789	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9258860C>T	ENST00000262126.4	+	9	5835	c.5595C>T	c.(5593-5595)gaC>gaT	p.D1865D	ANKRD12_ENST00000400020.3_Silent_p.D1842D|ANKRD12_ENST00000383440.2_Silent_p.D1842D|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1865						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTACTATGACGAATATGTAA	0.363																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5524-5526)gaC>gaT		ankyrin repeat domain 12		C	,,	2,4404	4.2+/-10.8	0,2,2201	95.0	92.0	93.0		5526,5526,5595	4.2	1.0	18	dbSNP_134	93	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ANKRD12	NM_001083625.2,NM_001204056.1,NM_015208.4	,,	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	,,	1842/2040,1842/2040,1865/2063	9258860	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9258860C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5595C>T	18.37:g.9258860C>T						ANKRD12_ENST00000262126.3_Silent_p.D1865D|ANKRD12_ENST00000400020.3_Silent_p.D1842D	p.D1842D	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	5783	+			1865					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.5526C>T	CCDS11843.1																																																																																				0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		34	76	0	0	0	1	0	34	76				
TFAP2B	7021	broad.mit.edu	37	6	50810927	50810927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50810927C>T	ENST00000393655.3	+	7	1374	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	TFAP2B_ENST00000263046.4_Missense_Mutation_p.T411M	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	402				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCTCATCACGCACGGCTTC	0.632																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1231-1233)aCg>aTg		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							63.0	68.0	66.0					6																	50810927		2203	4299	6502	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810927C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1205C>T	6.37:g.50810927C>T	ENSP00000377265:p.Thr402Met					TFAP2B_ENST00000393655.3_Missense_Mutation_p.T402M	p.T411M			Q92481	AP2B_HUMAN			8	1398	+	Lung NSC(77;0.156)		402	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1232C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029702	0.75504	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97850	-4.57;-4.57	4.65	4.65	0.58169	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99844	1.1064	10	0.87932	D	0	-12.6635	17.5402	0.87845	0.0:1.0:0.0:0.0	.	402	Q92481	AP2B_HUMAN	M	402;411	ENSP00000377265:T402M;ENSP00000263046:T411M	ENSP00000263046:T411M	T	+	2	0	TFAP2B	50918886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.143000	0.66587	0.561000	0.74099	ACG		0.632	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		35	56	0	0	0	1	0	35	56				
SGK1	6446	broad.mit.edu	37	6	134493435	134493435	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134493435T>C	ENST00000237305.7	-	8	770	c.682A>G	c.(682-684)Att>Gtt	p.I228V	SGK1_ENST00000367858.5_Missense_Mutation_p.I323V|SGK1_ENST00000475719.2_Missense_Mutation_p.I184V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.I256V|SGK1_ENST00000367857.5_Missense_Mutation_p.I218V|SGK1_ENST00000413996.3_Missense_Mutation_p.I242V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			I -> V (in Ref. 6; BAH12848). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCTAGCAAAATATTCTCTGGT	0.383																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(967-969)Att>Gtt		serum/glucocorticoid regulated kinase 1							165.0	155.0	158.0					6																	134493435		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493435T>C	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.682A>G	6.37:g.134493435T>C	ENSP00000237305:p.Ile228Val					SGK1_ENST00000475719.2_Missense_Mutation_p.I184V|SGK1_ENST00000413996.3_Missense_Mutation_p.I242V|SGK1_ENST00000237305.7_Missense_Mutation_p.I228V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.I256V|SGK1_ENST00000367857.5_Missense_Mutation_p.I218V	p.I323V	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	10	1564	-	Colorectal(23;0.221)		228			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.967A>G	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766050	0.69878	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.32272	2.76;2.76;2.76;2.76;2.76;1.46	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	L	0.31926	0.97	0.80722	D	1	P;B;B;B;B;P	0.37548	0.599;0.332;0.258;0.003;0.008;0.48	B;B;P;B;B;B	0.46543	0.413;0.287;0.52;0.05;0.027;0.395	T	0.05209	-1.0899	10	0.59425	D	0.04	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	256;242;184;218;323;228	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	323;242;228;218;256;184	ENSP00000356832:I323V;ENSP00000396242:I242V;ENSP00000237305:I228V;ENSP00000356831:I218V;ENSP00000434450:I256V;ENSP00000434302:I184V	ENSP00000237305:I228V	I	-	1	0	SGK1	134535128	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	ATT		0.383	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			44	87	0	0	0	1	0	44	87				
ZNF234	10780	broad.mit.edu	37	19	44661424	44661424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661424C>A	ENST00000426739.2	+	6	1513	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	ZNF234_ENST00000592437.1_Missense_Mutation_p.L419M	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAAGTGCATCTGGTAGTCCA	0.418																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1255-1257)Ctg>Atg		zinc finger protein 234							51.0	54.0	53.0					19																	44661424		2119	4269	6388	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661424C>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1255C>A	19.37:g.44661424C>A	ENSP00000400878:p.Leu419Met					ZNF234_ENST00000592437.1_Missense_Mutation_p.L419M	p.L419M	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1513	+		Prostate(69;0.0435)	419					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1255C>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861159	0.32884	.	.	ENSG00000167380	ENST00000426739	T	0.05649	3.41	4.04	0.668	0.17912	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	N	0.04705	-0.18	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.38845	-0.9642	9	0.87932	D	0	.	8.0934	0.30813	0.0:0.7183:0.0:0.2817	.	419	Q14588	ZN234_HUMAN	M	419	ENSP00000400878:L419M	ENSP00000400878:L419M	L	+	1	2	ZNF226	49353264	0.000000	0.05858	0.006000	0.13384	0.797000	0.45037	-0.010000	0.12743	0.118000	0.18165	0.591000	0.81541	CTG		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			8	22	1	0	5.18039e-06	1	5.91835e-06	8	22				
NBAS	51594	broad.mit.edu	37	2	15378705	15378705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15378705C>T	ENST00000281513.5	-	45	5855	c.5830G>A	c.(5830-5832)Gct>Act	p.A1944T	NBAS_ENST00000441750.1_Missense_Mutation_p.A1824T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1944					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A1944T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAATCCTTAGCTTCTTGAGCT	0.413																																						ENST00000281513.5																			1	Substitution - Missense(1)	p.A1944T(1)	breast(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5830-5832)Gct>Act		neuroblastoma amplified sequence							125.0	126.0	126.0					2																	15378705		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15378705C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5830G>A	2.37:g.15378705C>T	ENSP00000281513:p.Ala1944Thr					NBAS_ENST00000441750.1_Missense_Mutation_p.A1824T	p.A1944T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			45	5855	-			1944					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5830G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	4.222	0.040114	0.08148	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.46819	2.88;3.06;0.86	5.97	-0.297	0.12820	.	1.215600	0.05346	N	0.530982	T	0.36110	0.0955	L	0.46157	1.445	0.09310	N	1	P;B	0.39352	0.669;0.0	B;B	0.30943	0.122;0.002	T	0.34403	-0.9830	10	0.87932	D	0	.	5.8284	0.18566	0.0:0.4762:0.2254:0.2984	.	1824;1944	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	T	1824;1944;36	ENSP00000413201:A1824T;ENSP00000281513:A1944T;ENSP00000392421:A36T	ENSP00000281513:A1944T	A	-	1	0	NBAS	15296156	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.117000	0.15583	-0.070000	0.12908	0.655000	0.94253	GCT		0.413	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		31	47	0	0	0	1	0	31	47				
ZNF835	90485	broad.mit.edu	37	19	57176010	57176010	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57176010C>T	ENST00000537055.2	-	2	788	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCGTGCGCCAGTGGGA	0.721																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(556-558)cGc>cAc		zinc finger protein 835							15.0	16.0	15.0					19																	57176010		2199	4293	6492	SO:0001583	missense	90485							g.chr19:57176010C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.557G>A	19.37:g.57176010C>T	ENSP00000444747:p.Arg186His						p.R186H	NM_001005850.2	NP_001005850.2					2	788	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.557G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493934	0.44352	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25749	1.78	1.94	0.887	0.19200	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42966	0.1226	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.22034	-1.0228	9	0.87932	D	0	.	2.5743	0.04802	0.2849:0.5412:0.0:0.1738	.	208	Q9Y2P0	ZN835_HUMAN	H	208;186	ENSP00000444747:R186H	ENSP00000341756:R208H	R	-	2	0	ZNF835	61867822	0.004000	0.15560	0.005000	0.12908	0.570000	0.35934	0.827000	0.27421	0.387000	0.25024	-0.258000	0.10820	CGC		0.721	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	10	0	0	0	1	0	5	10				
CLCF1	23529	broad.mit.edu	37	11	67132614	67132614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67132614C>T	ENST00000312438.7	-	3	868	c.671G>A	c.(670-672)gGc>gAc	p.G224D	CLCF1_ENST00000528474.1_Missense_Mutation_p.G214D|RN7SKP239_ENST00000364814.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.G214D|AP003419.11_ENST00000543494.1_RNA	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	224					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AAGTCAGAAGCCATGAGCCCC	0.597																																						ENST00000312438.7																			0				endometrium(1)|urinary_tract(1)	2						c.(670-672)gGc>gAc		cardiotrophin-like cytokine factor 1							49.0	39.0	42.0					11																	67132614		2200	4295	6495	SO:0001583	missense	23529				B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr11:67132614C>T	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.671G>A	11.37:g.67132614C>T	ENSP00000309338:p.Gly224Asp					AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_Missense_Mutation_p.G214D|CLCF1_ENST00000533438.1_Missense_Mutation_p.G214D	p.G224D	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.39e-06)		3	868	-			224					B4DNT4|Q6NZA4	Missense_Mutation	SNP	ENST00000312438.7	37	c.671G>A	CCDS31617.1	.	.	.	.	.	.	.	.	.	.	c	13.39	2.222972	0.39300	.	.	ENSG00000175505	ENST00000312438;ENST00000533438;ENST00000528474	T;T;T	0.81415	-1.49;-1.46;-1.46	4.54	3.6	0.41247	.	0.192355	0.34245	N	0.004125	T	0.68054	0.2959	N	0.14661	0.345	0.32991	D	0.524915	B	0.21688	0.059	B	0.21708	0.036	T	0.73148	-0.4074	10	0.87932	D	0	-5.8553	14.6878	0.69062	0.0:0.853:0.147:0.0	.	224	Q9UBD9	CLCF1_HUMAN	D	224;214;214	ENSP00000309338:G224D;ENSP00000434122:G214D;ENSP00000432553:G214D	ENSP00000309338:G224D	G	-	2	0	CLCF1	66889190	0.998000	0.40836	0.891000	0.34965	0.113000	0.19764	1.650000	0.37292	1.179000	0.42884	0.556000	0.70494	GGC		0.597	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246		17	38	0	0	0	1	0	17	38				
PCDHAC1	56135	broad.mit.edu	37	5	140308746	140308746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140308746C>T	ENST00000253807.2	+	1	2269	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R757W|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	757					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTCTATCGGGCCTCTCT	0.473																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2269-2271)Cgg>Tgg									110.0	108.0	109.0					5																	140308746		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308746C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2269C>T	5.37:g.140308746C>T	ENSP00000253807:p.Arg757Trp					PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R757W|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.R757W	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2269	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2269C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	4.968	0.179870	0.09443	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.54866	0.55;0.55	5.95	2.15	0.27550	.	.	.	.	.	T	0.39306	0.1073	L	0.38175	1.15	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.008	T	0.36040	-0.9764	9	0.87932	D	0	.	4.7017	0.12830	0.2621:0.4737:0.0:0.2642	.	757;757	Q9H158;Q9H158-2	PCDC1_HUMAN;.	W	757	ENSP00000386356:R757W;ENSP00000253807:R757W	ENSP00000253807:R757W	R	+	1	2	PCDHAC1	140288930	0.262000	0.24073	0.041000	0.18516	0.276000	0.26787	-0.019000	0.12546	0.103000	0.17682	0.563000	0.77884	CGG		0.473	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		34	57	0	0	0	1	0	34	57				
LRGUK	136332	broad.mit.edu	37	7	133812281	133812281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133812281C>A	ENST00000285928.2	+	1	230	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAGGCAGCTCTAACATAGCC	0.597																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(160-162)tCt>tAt		leucine-rich repeats and guanylate kinase domain containing							92.0	90.0	90.0					7																	133812281		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133812281C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.161C>A	7.37:g.133812281C>A	ENSP00000285928:p.Ser54Tyr					LRGUK_ENST00000473068.1_3'UTR	p.S54Y	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			1	230	+			54					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.161C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	2.147	-0.395385	0.04899	.	.	ENSG00000155530	ENST00000285928	T	0.33216	1.42	3.74	1.07	0.20283	.	0.751184	0.11905	N	0.518169	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.34782	T	0.22	-1.7367	2.3725	0.04334	0.2276:0.1603:0.0:0.6121	.	54	Q96M69	LRGUK_HUMAN	Y	54	ENSP00000285928:S54Y	ENSP00000285928:S54Y	S	+	2	0	LRGUK	133462821	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	0.273000	0.18662	0.197000	0.20387	-0.345000	0.07892	TCT		0.597	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		8	87	1	0	0.0381472	1	0.0390147	8	87				
TAZ	6901	broad.mit.edu	37	X	153648459	153648459	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153648459G>A	ENST00000369776.4	+	5	550	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TAZ_ENST00000299328.5_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000475699.1_Intron			Q9GZV5	WWTR1_HUMAN	tafazzin	62	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGACAGAGAGATGGCATCTG	0.647																																						ENST00000369776.4																			0				lung(1)	1						c.(463-465)gaG>gaA		tafazzin							93.0	89.0	91.0					X																	153648459		2203	4300	6503	SO:0001819	synonymous_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648459G>A	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000369776.4:c.465G>A	X.37:g.153648459G>A						TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000299328.5_Intron	p.E155E			Q16635	TAZ_HUMAN			5	550	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		215			Hydrophilic.		D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	ENST00000369776.4	37	c.465G>A																																																																																					0.647	TAZ-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000080943.2			5	143	0	0	0	1	0	5	143				
SULT1C3	442038	broad.mit.edu	37	2	108863776	108863776	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108863776C>A	ENST00000329106.2	+	1	126	c.126C>A	c.(124-126)ttC>ttA	p.F42L	SULT1C3_ENST00000376700.1_Missense_Mutation_p.F42L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	42					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATGTAATTTCCAAGCCAAGC	0.358																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(124-126)ttC>ttA		sulfotransferase family, cytosolic, 1C, member 3							87.0	97.0	94.0					2																	108863776		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863776C>A	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.126C>A	2.37:g.108863776C>A	ENSP00000333310:p.Phe42Leu					SULT1C3_ENST00000376700.1_Missense_Mutation_p.F42L	p.F42L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	126	+			42					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.126C>A	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893730	0.33442	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.02121	4.44;4.44	4.26	0.412	0.16397	.	0.000000	0.46145	D	0.000302	T	0.02807	0.0084	N	0.08118	0	0.36674	D	0.878646	D	0.69078	0.997	D	0.64776	0.929	T	0.58825	-0.7568	10	0.52906	T	0.07	.	6.5778	0.22577	0.0:0.5807:0.0:0.4193	.	42	Q6IMI6	ST1C3_HUMAN	L	42	ENSP00000333310:F42L;ENSP00000365890:F42L	ENSP00000333310:F42L	F	+	3	2	SULT1C3	108230208	0.987000	0.35691	0.349000	0.25694	0.002000	0.02628	0.189000	0.17037	-0.043000	0.13513	-0.142000	0.14014	TTC		0.358	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		32	47	1	0	8.16721e-17	1	1.05573e-16	32	47				
JAG1	182	broad.mit.edu	37	20	10625533	10625533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625533C>T	ENST00000254958.5	-	18	2837	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	JAG1_ENST00000423891.2_Nonsense_Mutation_p.W615*|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	774	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGGCCCCTCCCAGCCTTCCT	0.587									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2320-2322)tgG>tgA		jagged 1							133.0	136.0	135.0					20																	10625533		2203	4300	6503	SO:0001587	stop_gained	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10625533C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2322G>A	20.37:g.10625533C>T	ENSP00000254958:p.Trp774*					JAG1_ENST00000423891.2_Nonsense_Mutation_p.W615*	p.W774*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			18	2837	-			774			EGF-like 14.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	ENST00000254958.5	37	c.2322G>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	43	9.927398	0.99298	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	774;615	.	ENSP00000254958:W774X	W	-	3	0	JAG1	10573533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TGG		0.587	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		10	140	0	0	0	1	0	10	140				
C2	717	broad.mit.edu	37	6	31912542	31912542	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31912542C>A	ENST00000299367.5	+	16	2217	c.1941C>A	c.(1939-1941)acC>acA	p.T647T	C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Silent_p.T418T|CFB_ENST00000425368.2_5'Flank|C2_ENST00000452323.2_Silent_p.T433T|CFB_ENST00000456570.1_Silent_p.T494T|CFB_ENST00000556679.1_Silent_p.T494T|C2_ENST00000469372.1_Silent_p.T401T|C2_ENST00000442278.2_Silent_p.T515T	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	647	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AAGAAAAAACCATGTTCCCCA	0.567																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1480-1482)acC>acA		complement factor B							102.0	97.0	99.0					6																	31912542		1511	2708	4219	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31912542C>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1941C>A	6.37:g.31912542C>A						CFB_ENST00000556679.1_Silent_p.T494T|CFB_ENST00000477310.1_Silent_p.T418T|C2_ENST00000452323.2_Silent_p.T433T|C2_ENST00000442278.2_Silent_p.T515T|C2_ENST00000299367.5_Silent_p.T647T|C2_ENST00000468407.1_3'UTR|C2_ENST00000469372.1_Silent_p.T401T	p.T494T			P00751	CFAB_HUMAN			13	1537	+			664			Peptidase S1.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.1482C>A	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	9.033	0.987812	0.18966	.	.	ENSG00000166278	ENST00000383177	.	.	.	5.27	-2.47	0.06442	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35126	-0.9801	4	.	.	.	1.9119	2.6088	0.04885	0.2981:0.4368:0.107:0.1581	.	.	.	.	Q	421	.	.	P	+	2	0	C2	32020521	0.000000	0.05858	0.000000	0.03702	0.451000	0.32288	-0.670000	0.05256	-0.156000	0.11079	0.563000	0.77884	CCA		0.567	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			4	55	1	0	0.150653	1	0.152692	4	55				
GRIA4	2893	broad.mit.edu	37	11	105845055	105845055	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105845055A>T	ENST00000530497.1	+	15	2428	c.2428A>T	c.(2428-2430)Agc>Tgc	p.S810C	GRIA4_ENST00000393127.2_Missense_Mutation_p.S810C|GRIA4_ENST00000525187.1_Missense_Mutation_p.S810C|GRIA4_ENST00000282499.5_Missense_Mutation_p.S810C|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000533094.1_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	810					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GAGTGCCTTGAGCCTGAGCAA	0.473																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2428-2430)Agc>Tgc		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						177.0	165.0	169.0					11																	105845055		2201	4299	6500	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845055A>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2428A>T	11.37:g.105845055A>T	ENSP00000435775:p.Ser810Cys					GRIA4_ENST00000530497.1_Missense_Mutation_p.S810C|GRIA4_ENST00000282499.5_Missense_Mutation_p.S810C|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.S810C	p.S810C	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2874	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	810					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2428A>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456652	0.84317	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.82	5.82	0.92795	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.81841	-0.0747	10	0.66056	D	0.02	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	810;810	P48058;G3V164	GRIA4_HUMAN;.	C	810	ENSP00000282499:S810C;ENSP00000376835:S810C;ENSP00000435775:S810C;ENSP00000432180:S810C	ENSP00000282499:S810C	S	+	1	0	GRIA4	105350265	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.221000	0.72209	0.528000	0.53228	AGC		0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			11	109	0	0	0	1	0	11	109				
HIST1H1B	3009	broad.mit.edu	37	6	27834869	27834869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27834869C>T	ENST00000331442.3	-	1	490	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	147					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTTTTCGCCCCTGCAGCCTTC	0.637																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(439-441)Ggg>Agg		histone cluster 1, H1b							96.0	112.0	107.0					6																	27834869		2203	4298	6501	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834869C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.439G>A	6.37:g.27834869C>T	ENSP00000330074:p.Gly147Arg						p.G147R	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	490	-			147					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.439G>A	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778573	0.31502	.	.	ENSG00000184357	ENST00000331442	T	0.04083	3.71	5.19	5.19	0.71726	.	0.255518	0.35291	N	0.003313	T	0.01287	0.0042	N	0.08118	0	0.22552	N	0.998992	B	0.22909	0.077	B	0.25759	0.063	T	0.47071	-0.9145	10	0.46703	T	0.11	-6.5563	13.4376	0.61092	0.0:0.9221:0.0:0.0779	.	147	P16401	H15_HUMAN	R	147	ENSP00000330074:G147R	ENSP00000330074:G147R	G	-	1	0	HIST1H1B	27942848	0.156000	0.22821	0.035000	0.18076	0.033000	0.12548	3.114000	0.50383	2.600000	0.87896	0.655000	0.94253	GGG		0.637	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		6	182	0	0	0	1	0	6	182				
CELSR1	9620	broad.mit.edu	37	22	46930126	46930126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930126G>A	ENST00000262738.3	-	1	2941	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A981V|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	981	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTACCGAGGCGCTAAGGGG	0.567																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2941-2943)gCc>gTc		cadherin, EGF LAG seven-pass G-type receptor 1							82.0	82.0	82.0					22																	46930126		2201	4300	6501	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930126G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2942C>T	22.37:g.46930126G>A	ENSP00000262738:p.Ala981Val					CELSR1_ENST00000395964.1_Missense_Mutation_p.A981V	p.A981V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2941	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	981			Cadherin 7.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2942C>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.38|19.38	3.816419|3.816419	0.70912|0.70912	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.53423|.	0.62;0.62|.	4.42|4.42	4.42|4.42	0.53409|0.53409	Cadherin (4);Cadherin-like (1);|.	0.173042|.	0.36444|.	U|.	0.002582|.	T|T	0.73110|0.73110	0.3545|0.3545	M|M	0.69185|0.69185	2.1|2.1	0.45930|0.45930	D|D	0.998765|0.998765	P|.	0.47604|.	0.898|.	P|.	0.56343|.	0.796|.	T|T	0.73678|0.73678	-0.3907|-0.3907	10|5	0.62326|.	D|.	0.03|.	.|.	16.8638|16.8638	0.86024|0.86024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	981|.	Q9NYQ6|.	CELR1_HUMAN|.	V|S	981|356	ENSP00000262738:A981V;ENSP00000379293:A981V|.	ENSP00000262738:A981V|.	A|P	-|-	2|1	0|0	CELSR1|CELSR1	45308790|45308790	1.000000|1.000000	0.71417|0.71417	0.792000|0.792000	0.32020|0.32020	0.111000|0.111000	0.19643|0.19643	7.480000|7.480000	0.81109|0.81109	2.297000|2.297000	0.77311|0.77311	0.462000|0.462000	0.41574|0.41574	GCC|CCT		0.567	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		27	37	0	0	0	1	0	27	37				
DCAF7	10238	broad.mit.edu	37	17	61662612	61662612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61662612G>A	ENST00000310827.4	+	7	995	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Missense_Mutation_p.A60T|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	260					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CACACCTGTCGCCAGGTTAAA	0.473																																						ENST00000310827.4																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						c.(778-780)Gcc>Acc		DDB1 and CUL4 associated factor 7							111.0	109.0	110.0					17																	61662612		1946	4144	6090	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61662612G>A	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.778G>A	17.37:g.61662612G>A	ENSP00000308344:p.Ala260Thr					DCAF7_ENST00000415273.2_Missense_Mutation_p.A60T|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron	p.A260T	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN			7	995	+			260					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.778G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.462210	0.96240	.	.	ENSG00000136485	ENST00000310827;ENST00000415273	T;T	0.64438	-0.1;1.57	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049796	0.85682	D	0.000000	T	0.79793	0.4507	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.031	D;B	0.70016	0.967;0.05	T	0.80384	-0.1405	9	0.51188	T	0.08	-25.6427	18.8923	0.92410	0.0:0.0:1.0:0.0	.	60;260	B4E039;P61962	.;DCAF7_HUMAN	T	260;60	ENSP00000308344:A260T;ENSP00000403920:A60T	ENSP00000308344:A260T	A	+	1	0	DCAF7	59016344	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.615000	0.98356	2.698000	0.92095	0.561000	0.74099	GCC		0.473	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		29	52	0	0	0	1	0	29	52				
FES	2242	broad.mit.edu	37	15	91436526	91436526	+	Missense_Mutation	SNP	G	G	A	rs373409188		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91436526G>A	ENST00000328850.3	+	16	2069	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	FES_ENST00000394302.1_Missense_Mutation_p.D502N|FES_ENST00000414248.2_Missense_Mutation_p.D515N|FES_ENST00000450438.2_Missense_Mutation_p.D515N|FES_ENST00000394300.3_Missense_Mutation_p.D585N|FES_ENST00000444422.2_Missense_Mutation_p.D573N	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGGGGCGACTTCCTGAC	0.687																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1927-1929)Gac>Aac		feline sarcoma oncogene		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4396		0,0,2198	24.0	26.0	25.0		1753,1717,1543,1927	5.4	1.0	15		25	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense	FES	NM_001143783.1,NM_001143784.1,NM_001143785.1,NM_002005.3	23,23,23,23	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	585/765,573/753,515/695,643/823	91436526	1,12989	2198	4297	6495	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91436526G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1927G>A	15.37:g.91436526G>A	ENSP00000331504:p.Asp643Asn					FES_ENST00000444422.2_Missense_Mutation_p.D573N|FES_ENST00000394300.3_Missense_Mutation_p.D585N|FES_ENST00000394302.1_Missense_Mutation_p.D502N|FES_ENST00000450438.2_Missense_Mutation_p.D515N|FES_ENST00000414248.2_Missense_Mutation_p.D515N	p.D643N	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		16	2069	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		643			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1927G>A	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	34	5.407530	0.96051	0.0	1.16E-4	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	N	0.16833	0.445	0.80722	D	1	D;B;D;D;B;D	0.89917	1.0;0.24;1.0;1.0;0.24;1.0	D;B;D;D;B;D	0.97110	1.0;0.094;0.999;0.995;0.188;1.0	T	0.73424	-0.3987	10	0.72032	D	0.01	-46.3809	19.2555	0.93944	0.0:0.0:1.0:0.0	.	625;515;502;585;573;643	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	N	643;515;502;573;585;515	ENSP00000331504:D643N;ENSP00000414629:D515N;ENSP00000377839:D502N;ENSP00000400868:D573N;ENSP00000377837:D585N;ENSP00000409915:D515N	ENSP00000331504:D643N	D	+	1	0	FES	89237530	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.769000	0.85360	2.720000	0.93068	0.555000	0.69702	GAC		0.687	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		6	8	0	0	0	1	0	6	8				
RABGAP1	23637	broad.mit.edu	37	9	125719414	125719414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125719414G>A	ENST00000373647.4	+	2	210	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	26					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGAAGATTTTGTCTTGGTTTC	0.383																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(76-78)Gtc>Atc		RAB GTPase activating protein 1							108.0	93.0	98.0					9																	125719414		1568	3582	5150	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125719414G>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.76G>A	9.37:g.125719414G>A	ENSP00000362751:p.Val26Ile						p.V26I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			2	210	+			26					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.76G>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	32	5.168350	0.94768	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000402311	T;T	0.64618	-0.11;-0.11	5.8	5.8	0.92144	.	.	.	.	.	T	0.79811	0.4510	M	0.71036	2.16	0.80722	D	1	P;D	0.61697	0.953;0.99	P;D	0.73380	0.527;0.98	T	0.80327	-0.1429	9	0.72032	D	0.01	-9.587	20.0706	0.97721	0.0:0.0:1.0:0.0	.	26;26	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	I	26	ENSP00000362751:V26I;ENSP00000384119:V26I	ENSP00000324973:V26I	V	+	1	0	RABGAP1	124759235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.199000	0.95003	2.744000	0.94065	0.655000	0.94253	GTC		0.383	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		12	17	0	0	0	1	0	12	17				
OPLAH	26873	broad.mit.edu	37	8	145112765	145112765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145112765G>A	ENST00000426825.1	-	9	1231	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	384					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.R384C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTACCTTTGCGGTAGCAGGCG	0.662																																						ENST00000426825.1																			1	Substitution - Missense(1)	p.R384C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1150-1152)Cgc>Tgc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						17.0	24.0	22.0					8																	145112765		2067	4190	6257	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145112765G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1150C>T	8.37:g.145112765G>A	ENSP00000475943:p.Arg384Cys					OPLAH_ENST00000534424.1_5'UTR	p.R384C	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		9	1231	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		384					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.1150C>T		.	.	.	.	.	.	.	.	.	.	G	13.26	2.182879	0.38511	.	.	ENSG00000178814	ENST00000426825	.	.	.	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	.	.	.	0.44555	D	0.997519	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.976	T	0.82440	-0.0456	7	0.87932	D	0	.	12.0697	0.53609	0.0:0.0:1.0:0.0	.	384;384	A7E261;O14841	.;OPLA_HUMAN	C	384	.	ENSP00000412071:R384C	R	-	1	0	OPLAH	145184753	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	2.870000	0.48451	2.103000	0.63969	0.467000	0.42956	CGC		0.662	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		7	14	0	0	0	1	0	7	14				
AMER2	219287	broad.mit.edu	37	13	25745123	25745123	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25745123G>A	ENST00000515384.1	-	1	1302	c.635C>T	c.(634-636)gCg>gTg	p.A212V	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.A212V|AMER2_ENST00000381853.3_Missense_Mutation_p.A212V			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	212					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										cgcggccTCCGCCTTGGCCCG	0.726																																						ENST00000357816.2																			0											c.(634-636)gCg>gTg		APC membrane recruitment protein 2							8.0	10.0	9.0					13																	25745123		1958	3967	5925	SO:0001583	missense	219287							g.chr13:25745123G>A	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.635C>T	13.37:g.25745123G>A	ENSP00000426528:p.Ala212Val					AMER2_ENST00000381853.3_Missense_Mutation_p.A212V|AMER2_ENST00000515384.1_Missense_Mutation_p.A212V	p.A212V							2	1110	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.635C>T	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580059	0.28180	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.19669	2.13;2.13;2.13	3.25	0.674	0.17946	.	0.543595	0.17525	U	0.171086	T	0.06917	0.0176	N	0.08118	0	0.31969	N	0.607459	P;P	0.41978	0.767;0.586	B;B	0.24974	0.057;0.034	T	0.26503	-1.0101	10	0.41790	T	0.15	-33.3308	7.9659	0.30098	0.0:0.0:0.4428:0.5572	.	212;212	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	V	212	ENSP00000350469:A212V;ENSP00000371277:A212V;ENSP00000426528:A212V	ENSP00000350469:A212V	A	-	2	0	FAM123A	24643123	0.330000	0.24705	0.949000	0.38748	0.850000	0.48378	0.521000	0.22893	-0.028000	0.13850	0.305000	0.20034	GCG		0.726	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		4	7	0	0	0	1	0	4	7				
KIF13A	63971	broad.mit.edu	37	6	17826109	17826109	+	Missense_Mutation	SNP	G	G	A	rs370847942		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17826109G>A	ENST00000259711.6	-	16	1781	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	KIF13A_ENST00000378826.2_Missense_Mutation_p.T559M|KIF13A_ENST00000378816.5_Missense_Mutation_p.T559M|KIF13A_ENST00000378814.5_Missense_Mutation_p.T559M|KIF13A_ENST00000378843.2_Missense_Mutation_p.T559M	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	559					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCGGGCCCGTTTCTTTTTC	0.423																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1675-1677)aCg>aTg		kinesin family member 13A		G	MET/THR,MET/THR,MET/THR,MET/THR	0,3694		0,0,1847	127.0	126.0	127.0		1676,1676,1676,1676	5.2	0.0	6		127	1,8213		0,1,4106	no	missense,missense,missense,missense	KIF13A	NM_022113.5,NM_001105568.2,NM_001105567.2,NM_001105566.2	81,81,81,81	0,1,5953	AA,AG,GG		0.0122,0.0,0.0084	benign,benign,benign,benign	559/1806,559/1750,559/1758,559/1771	17826109	1,11907	1847	4107	5954	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17826109G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1676C>T	6.37:g.17826109G>A	ENSP00000259711:p.Thr559Met					KIF13A_ENST00000259711.6_Missense_Mutation_p.T559M|KIF13A_ENST00000378843.2_Missense_Mutation_p.T559M|KIF13A_ENST00000378816.5_Missense_Mutation_p.T559M|KIF13A_ENST00000378826.2_Missense_Mutation_p.T559M	p.T559M	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		16	1675	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	559					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1676C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114430	0.37339	0.0	1.22E-4	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	6.08	5.21	0.72293	.	0.356820	0.33515	N	0.004832	T	0.35451	0.0932	N	0.14661	0.345	0.28411	N	0.918205	B;B;B;B;B	0.28026	0.106;0.075;0.198;0.049;0.029	B;B;B;B;B	0.20384	0.007;0.025;0.029;0.007;0.014	T	0.35375	-0.9791	10	0.72032	D	0.01	.	12.2691	0.54695	0.1352:0.0:0.8648:0.0	.	530;559;559;559;559	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	M	559	ENSP00000368091:T559M;ENSP00000259711:T559M;ENSP00000368103:T559M;ENSP00000368120:T559M;ENSP00000368093:T559M	ENSP00000259711:T559M	T	-	2	0	KIF13A	17934088	1.000000	0.71417	0.007000	0.13788	0.851000	0.48451	6.144000	0.71762	1.593000	0.50029	0.655000	0.94253	ACG		0.423	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			41	88	0	0	0	1	0	41	88				
SLC44A4	80736	broad.mit.edu	37	6	31832637	31832637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31832637C>T	ENST00000229729.6	-	19	1902	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	SLC44A4_ENST00000375562.4_Missense_Mutation_p.D586N|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.D552N	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	628					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTCTTAAAGTCTTTACCCAGC	0.552																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1654-1656)Gac>Aac		solute carrier family 44, member 4	Choline(DB00122)						37.0	46.0	43.0					6																	31832637		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832637C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1882G>A	6.37:g.31832637C>T	ENSP00000229729:p.Asp628Asn					SLC44A4_ENST00000229729.6_Missense_Mutation_p.D628N|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D586N	p.D552N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			19	1950	-			628					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1654G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	6.980	0.550917	0.13374	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.12672	3.03;2.66;2.87	4.62	0.041	0.14211	.	1.390810	0.04104	N	0.313489	T	0.02571	0.0078	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40079	-0.9582	10	0.10636	T	0.68	-9.093	6.1767	0.20447	0.0:0.6161:0.1271:0.2569	.	628	Q53GD3	CTL4_HUMAN	N	628;586;552	ENSP00000229729:D628N;ENSP00000364712:D586N;ENSP00000444109:D552N	ENSP00000229729:D628N	D	-	1	0	SLC44A4	31940616	0.000000	0.05858	0.097000	0.21041	0.255000	0.26057	-0.079000	0.11357	-0.228000	0.09869	0.561000	0.74099	GAC		0.552	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			8	17	0	0	0	1	0	8	17				
FSHR	2492	broad.mit.edu	37	2	49195866	49195866	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49195866G>A	ENST00000406846.2	-	9	944	c.825C>T	c.(823-825)tgC>tgT	p.C275C	FSHR_ENST00000541117.1_Silent_p.C11C|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'Flank|FSHR_ENST00000304421.4_Silent_p.C249C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	275					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CAAAGGCACAGCAATGGCTGG	0.493									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(823-825)tgC>tgT		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						85.0	82.0	83.0					2																	49195866		2203	4300	6503	SO:0001819	synonymous_variant	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195866G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.825C>T	2.37:g.49195866G>A						FSHR_ENST00000541117.1_Silent_p.C11C|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Silent_p.C249C	p.C275C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	944	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	275					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.825C>T	CCDS1843.1																																																																																				0.493	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			17	28	0	0	0	1	0	17	28				
TOR1B	27348	broad.mit.edu	37	9	132571244	132571244	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132571244G>A	ENST00000259339.2	+	4	762	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	234					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGGAAGAAAGAGGGAAGACA	0.458																																						ENST00000259339.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12						c.(700-702)aaG>aaA		torsin family 1, member B (torsin B)							86.0	94.0	91.0					9																	132571244		2203	4300	6503	SO:0001819	synonymous_variant	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132571244G>A	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.702G>A	9.37:g.132571244G>A							p.K234K	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN			4	762	+		Ovarian(14;0.0586)	234						Silent	SNP	ENST00000259339.2	37	c.702G>A	CCDS6929.1																																																																																				0.458	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		30	43	0	0	0	1	0	30	43				
ARAP1	116985	broad.mit.edu	37	11	72424111	72424111	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72424111C>A	ENST00000393609.3	-	5	950				ARAP1_ENST00000393605.3_De_novo_Start_OutOfFrame|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000455638.2_Intron	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AAGGGGAAGCCTCCCGGGAAA	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000393605.3																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27								ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1																																				SO:0001627	intron_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72424111C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.747+109G>T	11.37:g.72424111C>A						ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000393609.3_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000429686.1_Intron				Q96P48	ARAP1_HUMAN			0	85	-								A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Translation_Start_Site	SNP	ENST00000393609.3	37		CCDS41687.1																																																																																				0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		3	16	1	0	1	1	1	3	16				
SLC12A8	84561	broad.mit.edu	37	3	124906141	124906141	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124906141G>T	ENST00000393469.4	-	3	379	c.330C>A	c.(328-330)atC>atA	p.I110I	SLC12A8_ENST00000423114.2_Silent_p.I139I|SLC12A8_ENST00000469902.1_Silent_p.I110I|SLC12A8_ENST00000314584.7_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	110					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GGACCGAGGAGATCATGGAGT	0.662																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(415-417)atC>atA		solute carrier family 12, member 8							57.0	77.0	71.0					3																	124906141		2168	4272	6440	SO:0001819	synonymous_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124906141G>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.330C>A	3.37:g.124906141G>T						SLC12A8_ENST00000469902.1_Silent_p.I110I|SLC12A8_ENST00000393469.4_Silent_p.I110I|SLC12A8_ENST00000314584.7_5'UTR	p.I139I			A0AV02	S12A8_HUMAN			4	416	-			110					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	c.417C>A	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998271	0.54147	.	.	ENSG00000221955	ENST00000479826	T	0.78595	-1.19	5.18	3.35	0.38373	.	.	.	.	.	T	0.77110	0.4082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73805	-0.3867	5	.	.	.	.	8.3739	0.32432	0.3464:0.0:0.6536:0.0	.	.	.	.	I	70	ENSP00000420197:L70I	.	L	-	1	0	SLC12A8	126388831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.554000	0.36266	1.420000	0.47138	0.643000	0.83706	CTC		0.662	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		16	23	1	0	1.52009e-12	1	1.91418e-12	16	23				
RANBP17	64901	broad.mit.edu	37	5	170395324	170395324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170395324G>A	ENST00000523189.1	+	14	1817	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	551					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATTCTGTGGTTCTTGGATC	0.348			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1651-1653)tgG>tgA		RAN binding protein 17							99.0	101.0	100.0					5																	170395324		2202	4300	6502	SO:0001587	stop_gained	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170395324G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1653G>A	5.37:g.170395324G>A	ENSP00000427975:p.Trp551*						p.W551*	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	1817	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	551					Q8IU74	Nonsense_Mutation	SNP	ENST00000523189.1	37	c.1653G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454707	0.84209	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	.	.	.	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.3108	17.5351	0.87827	0.0:0.0:1.0:0.0	.	.	.	.	X	551;447	.	ENSP00000373770:W551X	W	+	3	0	RANBP17	170327929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.657000	0.46724	2.672000	0.90937	0.591000	0.81541	TGG		0.348	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		37	37	0	0	0	1	0	37	37				
CTBP1	1487	broad.mit.edu	37	4	1209931	1209931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1209931C>T	ENST00000290921.6	-	5	791	c.610G>A	c.(610-612)Gac>Aac	p.D204N	CTBP1_ENST00000382952.3_Missense_Mutation_p.D193N	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	204					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AAGTAAGGGTCGTAGAAGAGC	0.652																																						ENST00000382952.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(577-579)Gac>Aac		C-terminal binding protein 1							63.0	58.0	60.0					4																	1209931		2203	4298	6501	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1209931C>T	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.610G>A	4.37:g.1209931C>T	ENSP00000290921:p.Asp204Asn					CTBP1_ENST00000290921.6_Missense_Mutation_p.D204N	p.D193N	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	6	961	-			204					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.577G>A	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.38|17.38	3.373916|3.373916	0.61624|0.61624	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921|ENST00000504092	D;D|.	0.82081|.	-1.57;-1.57|.	4.62|4.62	3.76|3.76	0.43208|0.43208	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);|.	0.048877|.	0.85682|.	D|.	0.000000|.	T|T	0.70378|0.70378	0.3217|0.3217	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	P;P|.	0.51057|.	0.941;0.594|.	P;P|.	0.49953|.	0.627;0.552|.	T|T	0.69624|0.69624	-0.5095|-0.5095	10|5	0.87932|.	D|.	0|.	-39.2693|-39.2693	13.929|13.929	0.63981|0.63981	0.1534:0.8466:0.0:0.0|0.1534:0.8466:0.0:0.0	.|.	204;193|.	Q13363;Q7Z2Q5|.	CTBP1_HUMAN;.|.	N|Q	193;204|50	ENSP00000372411:D193N;ENSP00000290921:D204N|.	ENSP00000290921:D204N|.	D|R	-|-	1|2	0|0	CTBP1|CTBP1	1199931|1199931	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.026000|0.026000	0.11368|0.11368	7.133000|7.133000	0.77259|0.77259	0.901000|0.901000	0.36495|0.36495	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.652	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		11	7	0	0	0	1	0	11	7				
MC4R	4160	broad.mit.edu	37	18	58039275	58039275	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039275A>G	ENST00000299766.3	-	1	726	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	103			V -> I (in dbSNP:rs2229616). {ECO:0000269|PubMed:11487744, ECO:0000269|PubMed:12646665, ECO:0000269|PubMed:14764818, ECO:0000269|PubMed:15486053, ECO:0000269|PubMed:7854347, ECO:0000269|PubMed:8392067}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAGGGTGATGACAATGGTTTC	0.433																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(307-309)gTc>gCc		melanocortin 4 receptor							105.0	98.0	100.0					18																	58039275		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039275A>G	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.308T>C	18.37:g.58039275A>G	ENSP00000299766:p.Val103Ala						p.V103A	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	726	-		Colorectal(73;0.0946)	103		V -> I (in dbSNP:rs2229616).			B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.308T>C	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562595	0.45694	.	.	ENSG00000166603	ENST00000299766	T	0.20598	2.06	5.86	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.058171	0.64402	N	0.000002	T	0.18509	0.0444	L	0.39467	1.215	0.54753	D	0.999989	B	0.10296	0.003	B	0.15052	0.012	T	0.02743	-1.1116	10	0.72032	D	0.01	.	10.078	0.42373	0.9209:0.0:0.0791:0.0	.	103	P32245	MC4R_HUMAN	A	103	ENSP00000299766:V103A	ENSP00000299766:V103A	V	-	2	0	MC4R	56190255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.372000	0.66156	1.047000	0.40274	0.533000	0.62120	GTC		0.433	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		33	55	0	0	0	1	0	33	55				
ARHGAP39	80728	broad.mit.edu	37	8	145773468	145773468	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145773468G>A	ENST00000276826.5	-	4	1203	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.F334F|ARHGAP39_ENST00000377307.2_Silent_p.F334F			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	334	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCCAGCCTCGAATTGCACGT	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1000-1002)ttC>ttT		Rho GTPase activating protein 39							20.0	24.0	23.0					8																	145773468		2004	3987	5991	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773468G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1002C>T	8.37:g.145773468G>A						ARHGAP39_ENST00000540274.1_Silent_p.F334F|ARHGAP39_ENST00000377307.2_Silent_p.F334F	p.F334F			Q9C0H5	RHG39_HUMAN			4	1203	-			334			Pro-rich.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1002C>T																																																																																					0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			15	29	0	0	0	1	0	15	29				
SORL1	6653	broad.mit.edu	37	11	121483485	121483485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121483485C>T	ENST00000260197.7	+	40	5492	c.5363C>T	c.(5362-5364)aCc>aTc	p.T1788I	SORL1_ENST00000532694.1_Missense_Mutation_p.T634I|SORL1_ENST00000527934.1_Missense_Mutation_p.T403I|SORL1_ENST00000534286.1_Missense_Mutation_p.T698I|SORL1_ENST00000525532.1_Missense_Mutation_p.T732I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1788	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTGACACCCACAAGCAA	0.468																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(5362-5364)aCc>aTc		sortilin-related receptor, L(DLR class) A repeats containing							132.0	102.0	112.0					11																	121483485		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121483485C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5363C>T	11.37:g.121483485C>T	ENSP00000260197:p.Thr1788Ile					SORL1_ENST00000534286.1_Missense_Mutation_p.T698I|SORL1_ENST00000527934.1_Missense_Mutation_p.T403I|SORL1_ENST00000525532.1_Missense_Mutation_p.T732I|SORL1_ENST00000532694.1_Missense_Mutation_p.T634I	p.T1788I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	40	5492	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1788			Fibronectin type-III 3.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5363C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648544	0.29336	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.76	2.73	0.32206	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.821692	0.11180	N	0.591040	T	0.32436	0.0829	N	0.08118	0	0.09310	N	1	B;B	0.23540	0.087;0.026	B;B	0.23852	0.049;0.022	T	0.18209	-1.0344	10	0.22109	T	0.4	.	12.2713	0.54708	0.1255:0.6328:0.2416:0.0	.	403;1788	E9PKB0;Q92673	.;SORL_HUMAN	I	1788;732;634;698;403	ENSP00000260197:T1788I;ENSP00000434634:T732I;ENSP00000432131:T634I;ENSP00000436447:T698I;ENSP00000435405:T403I	ENSP00000260197:T1788I	T	+	2	0	SORL1	120988695	0.004000	0.15560	0.426000	0.26672	0.816000	0.46133	1.927000	0.40094	0.754000	0.32968	0.655000	0.94253	ACC		0.468	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		12	17	0	0	0	1	0	12	17				
MMAB	326625	broad.mit.edu	37	12	110002938	110002938	+	Missense_Mutation	SNP	C	C	T	rs376219481		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110002938C>T	ENST00000545712.2	-	4	727	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	MMAB_ENST00000266839.5_Missense_Mutation_p.E21K|MMAB_ENST00000540016.1_Missense_Mutation_p.E60K|RNU4-32P_ENST00000363404.1_RNA	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	112					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGCTCTTCGGCAAATGTA	0.473																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(334-336)Gaa>Aaa		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	199.0	185.0	190.0		334	1.5	0.2	12		190	0,8600		0,0,4300	no	missense	MMAB	NM_052845.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	112/251	110002938	1,13005	2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:110002938C>T	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.334G>A	12.37:g.110002938C>T	ENSP00000445920:p.Glu112Lys					MMAB_ENST00000540016.1_Missense_Mutation_p.E60K|MMAB_ENST00000266839.5_Missense_Mutation_p.E21K	p.E112K	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			4	727	-			112					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.334G>A	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	4.712	0.132424	0.08981	2.27E-4	0.0	ENSG00000139428	ENST00000545712;ENST00000266839;ENST00000542390	D;D	0.95377	-2.74;-3.69	4.32	1.5	0.22942	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.362423	0.29616	N	0.011649	D	0.90710	0.7085	L	0.52266	1.64	0.19575	N	0.999969	B;B;B	0.24963	0.009;0.115;0.024	B;B;B	0.15870	0.014;0.014;0.009	T	0.79090	-0.1946	10	0.23891	T	0.37	-9.4782	7.4601	0.27289	0.0:0.7188:0.0:0.2812	.	21;112;112	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	K	112;21;112	ENSP00000445920:E112K;ENSP00000266839:E21K	ENSP00000266839:E21K	E	-	1	0	MMAB	108487321	0.510000	0.26171	0.185000	0.23176	0.059000	0.15707	1.146000	0.31589	0.201000	0.20466	-1.022000	0.02435	GAA		0.473	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			61	120	0	0	0	1	0	61	120				
FBXL18	80028	broad.mit.edu	37	7	5529774	5529774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5529774C>T	ENST00000453700.3	-	5	2187	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	FBXL18_ENST00000382368.3_Intron			Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	690									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGGCTCGAGACGTCCTGGCTG	0.607																																						ENST00000453700.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(2068-2070)acG>acA		F-box and leucine-rich repeat protein 18							21.0	21.0	21.0					7																	5529774		876	1991	2867	SO:0001819	synonymous_variant	80028							g.chr7:5529774C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000453700.3:c.2070G>A	7.37:g.5529774C>T						FBXL18_ENST00000382368.3_Intron	p.T690T			Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	5	2187	-		Ovarian(82;0.0607)	690					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000453700.3	37	c.2070G>A		.	.	.	.	.	.	.	.	.	.	C	1.920	-0.448498	0.04572	.	.	ENSG00000155034	ENST00000458142	.	.	.	1.43	0.466	0.16716	.	.	.	.	.	T	0.24851	0.0603	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	.	5.3781	0.16176	0.0:0.6365:0.3635:0.0	.	.	.	.	H	574	.	.	R	-	2	0	FBXL18	5496300	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.277000	0.18734	0.176000	0.19873	0.313000	0.20887	CGT		0.607	FBXL18-201	KNOWN	basic	protein_coding	protein_coding		NM_024963		4	14	0	0	0	1	0	4	14				
DHCR24	1718	broad.mit.edu	37	1	55319719	55319719	+	Silent	SNP	G	G	A	rs566854149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319719G>A	ENST00000371269.3	-	7	1307	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	DHCR24_ENST00000535035.1_Silent_p.N362N|DHCR24_ENST00000537443.1_Silent_p.N187N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	403					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CGTGGATGTCGTTTTGGAAGG	0.627																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1207-1209)aaC>aaT		24-dehydrocholesterol reductase							49.0	39.0	43.0					1																	55319719		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55319719G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1209C>T	1.37:g.55319719G>A						DHCR24_ENST00000535035.1_Silent_p.N362N|DHCR24_ENST00000537443.1_Silent_p.N187N	p.N403N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			7	1307	-			403					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.1209C>T	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955585	0.18507	.	.	ENSG00000116133	ENST00000436604	.	.	.	5.06	-4.81	0.03180	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.1493	15.8265	0.78711	0.783:0.0:0.217:0.0	.	.	.	.	X	41	.	.	R	-	1	2	DHCR24	55092307	0.001000	0.12720	0.922000	0.36590	0.965000	0.64279	-1.206000	0.03011	-0.937000	0.03719	-0.258000	0.10820	CGA		0.627	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		3	9	0	0	0	1	0	3	9				
NRROS	375387	broad.mit.edu	37	3	196386837	196386837	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196386837G>A	ENST00000328557.4	+	3	526	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	108					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGTCACCTGCGCAGCCTGGTC	0.672																																						ENST00000328557.4																			0											c.(322-324)cGc>cAc		negative regulator of reactive oxygen species							36.0	36.0	36.0					3																	196386837		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196386837G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.323G>A	3.37:g.196386837G>A	ENSP00000328625:p.Arg108His						p.R108H	NM_198565.1	NP_940967.1					3	526	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.323G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564514	0.13498	.	.	ENSG00000174004	ENST00000328557	T	0.01084	5.36	6.07	-8.85	0.00799	.	0.858773	0.10820	N	0.630604	T	0.01061	0.0035	L	0.39397	1.21	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.38542	-0.9656	10	0.44086	T	0.13	.	10.2448	0.43334	0.5808:0.0:0.2679:0.1514	.	108	Q86YC3	LRC33_HUMAN	H	108	ENSP00000328625:R108H	ENSP00000328625:R108H	R	+	2	0	LRRC33	197871234	0.000000	0.05858	0.000000	0.03702	0.613000	0.37349	-0.798000	0.04565	-1.875000	0.01132	-0.768000	0.03414	CGC		0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		9	22	0	0	0	1	0	9	22				
MYO18B	84700	broad.mit.edu	37	22	26168350	26168350	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26168350G>T	ENST00000407587.2	+	7	1911	c.1742G>T	c.(1741-1743)aGt>aTt	p.S581I	MYO18B_ENST00000335473.7_Missense_Mutation_p.S581I|MYO18B_ENST00000536101.1_Missense_Mutation_p.S581I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	581	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTCATCAGTGTCAACGAA	0.597																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1741-1743)aGt>aTt		myosin XVIIIB							108.0	108.0	108.0					22																	26168350		2038	4184	6222	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26168350G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1742G>T	22.37:g.26168350G>T	ENSP00000386096:p.Ser581Ile					MYO18B_ENST00000536101.1_Missense_Mutation_p.S581I|MYO18B_ENST00000407587.2_Missense_Mutation_p.S581I	p.S581I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			7	1992	+			581			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1742G>T		.	.	.	.	.	.	.	.	.	.	G	16.14	3.037488	0.54896	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.71461	-0.57;-0.57;-0.57	5.11	5.11	0.69529	Myosin head, motor domain (2);	0.488588	0.21633	N	0.071454	T	0.80325	0.4602	M	0.71581	2.175	0.30507	N	0.769788	D;D;D;D	0.67145	0.989;0.996;0.996;0.994	P;D;P;P	0.65987	0.9;0.94;0.907;0.9	T	0.76591	-0.2903	10	0.23891	T	0.37	.	12.9975	0.58654	0.0803:0.0:0.9196:0.0	.	94;581;581;581	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	581	ENSP00000441229:S581I;ENSP00000334563:S581I;ENSP00000386096:S581I	ENSP00000334563:S581I	S	+	2	0	MYO18B	24498350	0.887000	0.30362	0.985000	0.45067	0.714000	0.41099	1.820000	0.39032	2.375000	0.81037	0.561000	0.74099	AGT		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		34	49	1	0	4.42602e-33	1	5.94339e-33	34	49				
RB1	5925	broad.mit.edu	37	13	49047522	49047522	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49047522T>C	ENST00000267163.4	+	24	2654	c.2516T>C	c.(2515-2517)tTc>tCc	p.F839S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	839	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R830fs*8(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTGAATCATTCGGGGTGAGT	0.264		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		27	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(1)	p.0?(15)|p.?(11)|p.R830fs*8(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CD982923	RB1	D		c.(2515-2517)tTc>tCc		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						104.0	111.0	108.0					13																	49047522		2201	4293	6494	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49047522T>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2516T>C	13.37:g.49047522T>C	ENSP00000267163:p.Phe839Ser	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.F839S	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	24	2654	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	839			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2516T>C	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125950	0.77436	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.85484	-1.99	5.72	4.52	0.55395	Rb C-terminal (1);	0.059686	0.64402	D	0.000002	D	0.89223	0.6654	L	0.55990	1.75	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	D	0.87736	0.2582	10	0.44086	T	0.13	.	10.8283	0.46647	0.141:0.0:0.0:0.859	.	839	P06400	RB_HUMAN	S	818;839	ENSP00000267163:F839S	ENSP00000267163:F839S	F	+	2	0	RB1	47945523	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.010000	0.76353	0.961000	0.38030	0.460000	0.39030	TTC		0.264	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			3	93	0	0	0	1	0	3	93				
SCN10A	6336	broad.mit.edu	37	3	38781028	38781028	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38781028G>T	ENST00000449082.2	-	14	2257	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	753					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCGCAGCACAGACAGGCTTCC	0.512																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2257-2259)tCt>tAt		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						62.0	57.0	59.0					3																	38781028		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781028G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2258C>A	3.37:g.38781028G>T	ENSP00000390600:p.Ser753Tyr						p.S753Y	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2257	-			753					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2258C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412406	0.83340	.	.	ENSG00000185313	ENST00000449082	D	0.97752	-4.52	4.19	4.19	0.49359	Ion transport (1);	0.377447	0.26704	N	0.022928	D	0.98950	0.9643	H	0.98068	4.14	0.50171	D	0.99985	D	0.55385	0.971	P	0.54210	0.745	D	0.99795	1.1033	10	0.87932	D	0	.	16.7073	0.85375	0.0:0.0:1.0:0.0	.	753	Q9Y5Y9	SCNAA_HUMAN	Y	753	ENSP00000390600:S753Y	ENSP00000390600:S753Y	S	-	2	0	SCN10A	38756032	1.000000	0.71417	0.764000	0.31436	0.974000	0.67602	6.432000	0.73400	2.174000	0.68829	0.655000	0.94253	TCT		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		8	14	1	0	9.70103e-10	1	1.18443e-09	8	14				
CCDC130	81576	broad.mit.edu	37	19	13873665	13873665	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13873665C>A	ENST00000586600.1	+	11	1477	c.974C>A	c.(973-975)gCt>gAt	p.A325D	CCDC130_ENST00000221554.8_Missense_Mutation_p.A325D|MRI1_ENST00000319545.8_5'Flank|MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	325					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCAGAGGAGGCTGCCCAGGAC	0.701																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(973-975)gCt>gAt		coiled-coil domain containing 130							12.0	15.0	14.0					19																	13873665		2185	4282	6467	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873665C>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.974C>A	19.37:g.13873665C>A	ENSP00000465776:p.Ala325Asp					CCDC130_ENST00000221554.8_Missense_Mutation_p.A325D|CCDC130_ENST00000587019.1_3'UTR	p.A325D			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1477	+			325					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.974C>A	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	3.726	-0.056487	0.07362	.	.	ENSG00000104957	ENST00000221554	T	0.29655	1.56	4.24	-4.92	0.03075	.	1.182140	0.06149	N	0.673749	T	0.14013	0.0339	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.28744	-1.0034	10	0.11794	T	0.64	-17.2089	2.6454	0.04983	0.4281:0.2217:0.2598:0.0904	.	325;325	B3KUZ1;P13994	.;CC130_HUMAN	D	325	ENSP00000221554:A325D	ENSP00000221554:A325D	A	+	2	0	CCDC130	13734665	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.472000	0.06623	-0.387000	0.07809	-0.350000	0.07774	GCT		0.701	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		3	8	1	0	0.004672	1	0.0049138	3	8				
NT5C3B	115024	broad.mit.edu	37	17	39991363	39991363	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39991363G>T	ENST00000435506.2	-	4	256	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	KLHL10_ENST00000293303.4_5'Flank|NT5C3B_ENST00000269534.8_Missense_Mutation_p.L55M|NT5C3B_ENST00000521789.1_Missense_Mutation_p.L30M|RN7SL871P_ENST00000583512.1_RNA			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	63					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CTATTATCCAGAATATCTGGA	0.428																																						ENST00000269534.8																			0											c.(163-165)Ctg>Atg		5'-nucleotidase, cytosolic IIIB							139.0	134.0	136.0					17																	39991363		2203	4300	6503	SO:0001583	missense	115024							g.chr17:39991363G>T		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.187C>A	17.37:g.39991363G>T	ENSP00000389948:p.Leu63Met					NT5C3B_ENST00000435506.2_Missense_Mutation_p.L63M|NT5C3B_ENST00000521789.1_Missense_Mutation_p.L30M	p.L55M	NM_052935.4	NP_443167.4					4	264	-								A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	ENST00000435506.2	37	c.163C>A	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093936	0.36952	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.18	5.18	0.71444	HAD-like domain (1);	0.158891	0.42682	D	0.000666	D	0.90521	0.7030	M	0.78637	2.42	0.45261	D	0.998265	D;D;D	0.54601	0.962;0.967;0.962	P;P;P	0.62014	0.611;0.897;0.611	D	0.90151	0.4221	10	0.44086	T	0.13	-2.6444	12.2384	0.54528	0.0:0.0:0.7072:0.2928	.	63;30;55	C9JKC4;E5RH64;Q969T7	.;.;5NT3L_HUMAN	M	55;30;97;63;63	ENSP00000269534:L55M;ENSP00000429878:L30M;ENSP00000389948:L63M;ENSP00000397742:L63M	ENSP00000269534:L55M	L	-	1	2	NT5C3L	37244889	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	0.758000	0.26447	2.423000	0.82170	0.650000	0.86243	CTG		0.428	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		7	113	1	0	0.00448238	1	0.00472561	7	113				
CUX2	23316	broad.mit.edu	37	12	111748382	111748382	+	Missense_Mutation	SNP	G	G	A	rs200610249		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111748382G>A	ENST00000261726.6	+	15	1950	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AAGCCCTGGCGCAAGCTCACG	0.607																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1795-1797)cGc>cAc		cut-like homeobox 2							54.0	62.0	59.0					12																	111748382		2068	4204	6272	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748382G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1796G>A	12.37:g.111748382G>A	ENSP00000261726:p.Arg599His						p.R599H	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			15	1950	+			599					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1796G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154197	0.57259	.	.	ENSG00000111249	ENST00000261726	T	0.47177	0.85	4.77	4.77	0.60923	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	N	0.00841	-1.15	0.58432	D	0.999998	P	0.47545	0.897	B	0.37650	0.255	T	0.22382	-1.0218	10	0.33141	T	0.24	-20.2025	13.2167	0.59865	0.0802:0.0:0.9198:0.0	.	599	O14529	CUX2_HUMAN	H	599	ENSP00000261726:R599H	ENSP00000261726:R599H	R	+	2	0	CUX2	110232765	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.402000	0.73260	2.201000	0.70794	0.313000	0.20887	CGC		0.607	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		6	68	0	0	0	1	0	6	68				
CHAT	1103	broad.mit.edu	37	10	50828611	50828611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50828611C>T	ENST00000337653.2	+	4	803	c.650C>T	c.(649-651)gCc>gTc	p.A217V	CHAT_ENST00000395559.2_Missense_Mutation_p.A99V|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Missense_Mutation_p.A99V|CHAT_ENST00000351556.3_Missense_Mutation_p.A99V|CHAT_ENST00000455728.2_Missense_Mutation_p.A99V|CHAT_ENST00000395562.2_Missense_Mutation_p.A135V	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	217					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TCCAGCCCTGCCGTGATCTTT	0.617																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(403-405)gCc>gTc		choline O-acetyltransferase	Choline(DB00122)						121.0	95.0	104.0					10																	50828611		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50828611C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.650C>T	10.37:g.50828611C>T	ENSP00000337103:p.Ala217Val					CHAT_ENST00000455728.2_Missense_Mutation_p.A99V|CHAT_ENST00000395559.2_Missense_Mutation_p.A99V|CHAT_ENST00000337653.2_Missense_Mutation_p.A217V|CHAT_ENST00000351556.3_Missense_Mutation_p.A99V|CHAT_ENST00000339797.1_Missense_Mutation_p.A99V|CHAT_ENST00000460699.1_3'UTR	p.A135V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	5	873	+		all_neural(218;0.107)	217					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.404C>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928520	0.52759	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.57	5.57	0.84162	.	0.107337	0.64402	D	0.000006	T	0.75140	0.3809	L	0.27944	0.81	0.47308	D	0.999388	B;P	0.43750	0.392;0.816	B;B	0.42188	0.065;0.379	T	0.77099	-0.2713	10	0.49607	T	0.09	-13.2772	19.5425	0.95280	0.0:1.0:0.0:0.0	.	99;217	F8W8I2;P28329	.;CLAT_HUMAN	V	99;99;99;217;135;99	ENSP00000343486:A99V;ENSP00000345878:A99V;ENSP00000378926:A99V;ENSP00000337103:A217V;ENSP00000378929:A135V;ENSP00000390521:A99V	ENSP00000337103:A217V	A	+	2	0	CHAT	50498617	0.981000	0.34729	0.960000	0.40013	0.738000	0.42128	2.432000	0.44784	2.619000	0.88677	0.561000	0.74099	GCC		0.617	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		34	49	0	0	0	1	0	34	49				
CNPY2	10330	broad.mit.edu	37	12	56708994	56708994	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56708994C>T	ENST00000273308.4	-	2	548	c.8G>A	c.(7-9)gGc>gAc	p.G3D	CNPY2_ENST00000551720.1_5'UTR|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|PAN2_ENST00000549090.1_5'Flank|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.G3D	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	3					negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CCAACCCCAGCCTTTCATCTT	0.577																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(7-9)gGc>gAc		canopy FGF signaling regulator 2							51.0	55.0	54.0					12																	56708994		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56708994C>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.8G>A	12.37:g.56708994C>T	ENSP00000273308:p.Gly3Asp					CNPY2_ENST00000551720.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.G3D	p.G3D	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			2	548	-			3					B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.8G>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672738	0.67928	.	.	ENSG00000144785;ENSG00000144785;ENSG00000144785;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000547423;ENST00000548360;ENST00000273308;ENST00000551475	.	.	.	5.07	4.17	0.49024	.	0.429928	0.25987	N	0.027032	T	0.38532	0.1044	L	0.36672	1.1	0.31575	N	0.655844	D;B	0.57257	0.979;0.137	P;B	0.47470	0.548;0.022	T	0.40384	-0.9566	9	0.21014	T	0.42	0.3215	14.7821	0.69774	0.0:0.8543:0.1457:0.0	.	3;3	Q9Y2B0-2;Q9Y2B0	.;CNPY2_HUMAN	D	3	.	ENSP00000273308:G3D	G	-	2	0	RP11-977G19.10;CNPY2	54995261	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.263000	0.43293	1.496000	0.48567	0.655000	0.94253	GGC		0.577	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		4	38	0	0	0	1	0	4	38				
TMEM260	54916	broad.mit.edu	37	14	57082683	57082683	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:57082683G>A	ENST00000261556.6	+	8	1001	c.879G>A	c.(877-879)agG>agA	p.R293R	TMEM260_ENST00000538838.1_Silent_p.R293R|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	293						integral component of membrane (GO:0016021)											CAAATATGAGGACCGAACTCT	0.318																																						ENST00000261556.6																			0											c.(877-879)agG>agA		transmembrane protein 260							132.0	136.0	135.0					14																	57082683		2203	4299	6502	SO:0001819	synonymous_variant	54916							g.chr14:57082683G>A	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.879G>A	14.37:g.57082683G>A						TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Silent_p.R293R	p.R293R	NM_017799.3	NP_060269.3					8	1001	+								A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	37	c.879G>A	CCDS9727.2																																																																																				0.318	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		38	60	0	0	0	1	0	38	60				
C7orf62	219557	broad.mit.edu	37	7	88424200	88424200	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88424200A>T	ENST00000297203.2	-	2	242	c.57T>A	c.(55-57)ccT>ccA	p.P19P	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	19										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAAAAAGAAGAGGTTCCAGTG	0.413																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(55-57)ccT>ccA		chromosome 7 open reading frame 62							113.0	123.0	120.0					7																	88424200		2203	4300	6503	SO:0001819	synonymous_variant	219557							g.chr7:88424200A>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.57T>A	7.37:g.88424200A>T						ZNF804B_ENST00000333190.4_Intron	p.P19P	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	242	-			19						Silent	SNP	ENST00000297203.2	37	c.57T>A	CCDS34678.1																																																																																				0.413	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		8	131	0	0	0	1	0	8	131				
GP9	2815	broad.mit.edu	37	3	128780695	128780695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128780695G>A	ENST00000307395.4	+	3	335	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	38	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGGGTGGACTGCAGGGGCCAC	0.697																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(112-114)tGc>tAc		glycoprotein IX (platelet)	Quinine(DB00468)						23.0	23.0	23.0					3																	128780695		2198	4298	6496	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780695G>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.113G>A	3.37:g.128780695G>A	ENSP00000303942:p.Cys38Tyr						p.C38Y	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	335	+			38			LRRNT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.113G>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915644	0.52546	.	.	ENSG00000169704	ENST00000307395	D	0.99985	-11.65	4.17	4.17	0.49024	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	U	0.000000	D	0.99985	0.9996	M	0.72894	2.215	0.49798	D	0.999828	D	0.89917	1.0	D	0.97110	1.0	D	0.93493	0.6837	10	0.87932	D	0	-21.0506	13.9974	0.64411	0.0:0.0:1.0:0.0	.	38	P14770	GPIX_HUMAN	Y	38	ENSP00000303942:C38Y	ENSP00000303942:C38Y	C	+	2	0	GP9	130263385	1.000000	0.71417	0.967000	0.41034	0.379000	0.30106	4.737000	0.62066	2.120000	0.65058	0.462000	0.41574	TGC		0.697	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			6	6	0	0	0	1	0	6	6				
KIF19	124602	broad.mit.edu	37	17	72339248	72339248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72339248C>T	ENST00000389916.4	+	5	543	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	135	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCCGTGCCATCGAGGAGACCA	0.597																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(403-405)atC>atT		kinesin family member 19							99.0	76.0	84.0					17																	72339248		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72339248C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.405C>T	17.37:g.72339248C>T							p.I135I	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			5	543	+			135			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.405C>T	CCDS32718.2																																																																																				0.597	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		11	21	0	0	0	1	0	11	21				
DPYD	1806	broad.mit.edu	37	1	98165066	98165066	+	Missense_Mutation	SNP	G	G	T	rs374827081		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98165066G>T	ENST00000370192.3	-	6	621	c.521C>A	c.(520-522)cCt>cAt	p.P174H	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	174					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGGCAGCGAAGGATTTCTGAT	0.403																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(520-522)cCt>cAt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						142.0	143.0	143.0					1																	98165066		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98165066G>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.521C>A	1.37:g.98165066G>T	ENSP00000359211:p.Pro174His					DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	p.P174H	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	6	621	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	174					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.521C>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874797	0.72180	.	.	ENSG00000188641	ENST00000370192	D	0.93712	-3.27	5.5	4.59	0.56863	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.63793	0.918	D	0.96760	0.9560	10	0.87932	D	0	-8.0445	15.8198	0.78631	0.0:0.0:0.863:0.137	.	174	Q12882	DPYD_HUMAN	H	174	ENSP00000359211:P174H	ENSP00000359211:P174H	P	-	2	0	DPYD	97937654	1.000000	0.71417	0.960000	0.40013	0.829000	0.46940	6.396000	0.73234	1.323000	0.45263	0.585000	0.79938	CCT		0.403	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		62	241	1	0	3.89499e-28	1	5.20396e-28	62	241				
ACR	49	broad.mit.edu	37	22	51182575	51182575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51182575C>T	ENST00000216139.5	+	4	692	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTACAATGGGCGCGTTCAGCC	0.572																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(652-654)Cgc>Tgc		acrosin							207.0	177.0	187.0					22																	51182575		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51182575C>T	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.652C>T	22.37:g.51182575C>T	ENSP00000216139:p.Arg218Cys					ACR_ENST00000527761.1_3'UTR	p.R218C	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	4	692	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	218			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.652C>T	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	12.79	2.043186	0.36085	.	.	ENSG00000100312	ENST00000216139	D	0.89343	-2.5	4.48	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.159938	0.30068	N	0.010483	D	0.86087	0.5849	M	0.80847	2.515	0.80722	D	1	B	0.23316	0.083	B	0.21917	0.037	D	0.83361	0.0002	10	0.44086	T	0.13	-28.8415	5.3726	0.16148	0.0:0.6805:0.2083:0.1112	.	218	P10323	ACRO_HUMAN	C	218	ENSP00000216139:R218C	ENSP00000216139:R218C	R	+	1	0	ACR	49529441	0.420000	0.25457	0.998000	0.56505	0.831000	0.47069	1.164000	0.31810	2.335000	0.79485	0.450000	0.29827	CGC		0.572	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		6	94	0	0	0	1	0	6	94				
BAZ2B	29994	broad.mit.edu	37	2	160229666	160229666	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160229666G>A	ENST00000392783.2	-	27	4598	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1332V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1334V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1268V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAGTGAGACGCATCAAAGAG	0.398																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(4102-4104)gCg>gTg		bromodomain adjacent to zinc finger domain, 2B							101.0	92.0	95.0					2																	160229666		1885	4118	6003	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160229666G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4103C>T	2.37:g.160229666G>A	ENSP00000376534:p.Ala1368Val					BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1332V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1268V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1334V	p.A1368V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			27	4598	-			1368					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4103C>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748808	0.49257	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.60299	0.29;0.28;0.29;0.2	5.48	5.48	0.80851	.	0.000000	0.36778	U	0.002419	T	0.56499	0.1989	M	0.63843	1.955	0.40558	D	0.981183	P;P	0.47034	0.889;0.888	B;B	0.36922	0.236;0.146	T	0.66670	-0.5865	10	0.72032	D	0.01	-11.1103	19.3546	0.94407	0.0:0.0:1.0:0.0	.	1332;1368	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	1332;1368;1334;1268	ENSP00000376533:A1332V;ENSP00000376534:A1368V;ENSP00000348087:A1334V;ENSP00000339670:A1268V	ENSP00000339670:A1268V	A	-	2	0	BAZ2B	159937912	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.693000	0.74582	2.574000	0.86865	0.467000	0.42956	GCG		0.398	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			38	46	0	0	0	1	0	38	46				
FCHO1	23149	broad.mit.edu	37	19	17889000	17889000	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17889000G>A	ENST00000596536.1	+	19	1597	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	FCHO1_ENST00000594202.1_Silent_p.P438P|FCHO1_ENST00000597512.1_Silent_p.P445P|FCHO1_ENST00000252771.7_Silent_p.P438P|FCHO1_ENST00000389133.4_Silent_p.P438P|FCHO1_ENST00000596951.1_Silent_p.P438P|FCHO1_ENST00000600676.1_Silent_p.P438P|FCHO1_ENST00000539407.1_Silent_p.P438P|FCHO1_ENST00000595033.1_Silent_p.P388P	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	438	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTTTGGGCCGCCCCTGGAGT	0.572																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(1312-1314)ccG>ccA		FCH domain only 1							76.0	70.0	72.0					19																	17889000		2203	4300	6503	SO:0001819	synonymous_variant	23149							g.chr19:17889000G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1314G>A	19.37:g.17889000G>A						FCHO1_ENST00000600676.1_Silent_p.P438P|FCHO1_ENST00000597512.1_Silent_p.P445P|FCHO1_ENST00000252771.7_Silent_p.P438P|FCHO1_ENST00000596951.1_Silent_p.P438P|FCHO1_ENST00000389133.4_Silent_p.P438P|FCHO1_ENST00000595033.1_Silent_p.P388P|FCHO1_ENST00000539407.1_Silent_p.P438P|FCHO1_ENST00000596536.1_Silent_p.P438P	p.P438P	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			19	1593	+			438					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	c.1314G>A	CCDS32955.1																																																																																				0.572	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		22	30	0	0	0	1	0	22	30				
DCHS2	54798	broad.mit.edu	37	4	155219766	155219766	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219766G>T	ENST00000357232.4	-	18	4334	c.4335C>A	c.(4333-4335)acC>acA	p.T1445T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1445	Cadherin 12. {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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATGACAAGGGTAAAATTGC	0.438																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4333-4335)acC>acA		dachsous cadherin-related 2							105.0	110.0	109.0					4																	155219766		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219766G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4335C>A	4.37:g.155219766G>T							p.T1445T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4334	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1445			Cadherin 12.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.4335C>A	CCDS3785.1																																																																																				0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		37	53	1	0	2.51541e-25	1	3.34296e-25	37	53				
CCDC132	55610	broad.mit.edu	37	7	92938235	92938235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92938235G>A	ENST00000305866.5	+	19	1857	c.1729G>A	c.(1729-1731)Gga>Aga	p.G577R	CCDC132_ENST00000535481.1_Missense_Mutation_p.G297R|CCDC132_ENST00000541136.1_Missense_Mutation_p.G388R|CCDC132_ENST00000317751.6_Missense_Mutation_p.G308R|CCDC132_ENST00000544910.1_Missense_Mutation_p.G547R	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	577						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGCAGACAGGAGATGGTCC	0.378																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1639-1641)Gga>Aga		coiled-coil domain containing 132							158.0	156.0	156.0					7																	92938235		1939	4147	6086	SO:0001583	missense	55610							g.chr7:92938235G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1729G>A	7.37:g.92938235G>A	ENSP00000307666:p.Gly577Arg					CCDC132_ENST00000305866.5_Missense_Mutation_p.G577R|CCDC132_ENST00000541136.1_Missense_Mutation_p.G388R|CCDC132_ENST00000317751.6_Missense_Mutation_p.G308R|CCDC132_ENST00000535481.1_Missense_Mutation_p.G297R	p.G547R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		20	1859	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		577					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1639G>A	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370156	0.82573	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.46819	0.86	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.69997	-0.4993	10	0.72032	D	0.01	-10.8823	19.3667	0.94466	0.0:0.0:1.0:0.0	.	297;547;577	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	R	577;547;388;297;308	ENSP00000325582:G308R	ENSP00000307666:G577R	G	+	1	0	CCDC132	92776171	1.000000	0.71417	0.903000	0.35520	0.757000	0.42996	9.758000	0.98927	2.655000	0.90218	0.650000	0.86243	GGA		0.378	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		53	39	0	0	0	1	0	53	39				
VWA3B	200403	broad.mit.edu	37	2	98852926	98852926	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98852926G>T	ENST00000477737.1	+	18	2706	c.2502G>T	c.(2500-2502)caG>caT	p.Q834H		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	834										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAAGCCAGGTTTATGACC	0.433																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2500-2502)caG>caT		von Willebrand factor A domain containing 3B							144.0	150.0	148.0					2																	98852926		1933	4139	6072	SO:0001583	missense	200403							g.chr2:98852926G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2502G>T	2.37:g.98852926G>T	ENSP00000417955:p.Gln834His						p.Q834H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			18	2706	+			834					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2502G>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.875|8.875	0.950160|0.950160	0.18431|0.18431	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.06218	.|3.33	4.76|4.76	0.709|0.709	0.18150|0.18150	.|.	.|1.064770	.|0.07379	.|N	.|0.887192	T|T	0.11324|0.11324	0.0276|0.0276	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;B;B;D	.|0.54207	.|0.002;0.002;0.01;0.965	.|B;B;B;P	.|0.48141	.|0.005;0.002;0.004;0.568	T|T	0.30592|0.30592	-0.9973|-0.9973	5|10	.|0.66056	.|D	.|0.02	.|.	7.1263|7.1263	0.25473|0.25473	0.6712:0.0:0.3288:0.0|0.6712:0.0:0.3288:0.0	.|.	.|226;834;834;834	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	C|H	245|834	.|ENSP00000417955:Q834H	.|ENSP00000417955:Q834H	G|Q	+|+	1|3	0|2	VWA3B|VWA3B	98219358|98219358	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.202000|0.202000	0.24057|0.24057	-0.006000|-0.006000	0.12833|0.12833	-0.055000|-0.055000	0.13244|0.13244	-0.218000|-0.218000	0.12543|0.12543	GGT|CAG		0.433	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		36	37	1	0	9.17885e-22	1	1.20931e-21	36	37				
CDH13	1012	broad.mit.edu	37	16	83704395	83704395	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83704395T>G	ENST00000566620.1	+	9	1392	c.1102T>G	c.(1102-1104)Ttt>Gtt	p.F368V	CDH13_ENST00000428848.3_Splice_Site_p.F329V|CDH13_ENST00000268613.10_Splice_Site_p.F415V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	368	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTGTTTGCAGTTTCAAGCCAC	0.428																																						ENST00000566620.1																			0				large_intestine(1)	1						c.e9-1		cadherin 13							58.0	57.0	57.0					16																	83704395		1938	4128	6066	SO:0001630	splice_region_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704395T>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1102-1T>G	16.37:g.83704395T>G						CDH13_ENST00000268613.10_Splice_Site_p.F415_splice|CDH13_ENST00000428848.3_Splice_Site_p.F329_splice	p.F368_splice	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1392	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	368			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Splice_Site	SNP	ENST00000566620.1	37	c.1101_splice	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232669	0.79688	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.60797	0.16	5.87	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74122	0.3675	M	0.81614	2.55	0.80722	D	1	D;P;P	0.56287	0.975;0.575;0.794	D;P;P	0.67382	0.951;0.823;0.541	T	0.75210	-0.3398	8	.	.	.	.	11.2136	0.48813	0.0:0.0717:0.0:0.9283	.	329;415;368	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	V	415;368;329;70;58	ENSP00000268613:F415V	.	F	+	1	0	CDH13	82261896	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.384000	0.79751	1.043000	0.40175	0.477000	0.44152	TTT		0.428	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	Missense_Mutation	7	20	0	0	0	1	0	7	20				
FNDC3A	22862	broad.mit.edu	37	13	49765489	49765489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49765489G>A	ENST00000492622.2	+	19	2500	c.2195G>A	c.(2194-2196)aGc>aAc	p.S732N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.S732N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S676N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	732	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACATACAGCTTCAGACTA	0.378																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2194-2196)aGc>aAc		fibronectin type III domain containing 3A							103.0	103.0	103.0					13																	49765489		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49765489G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2195G>A	13.37:g.49765489G>A	ENSP00000417257:p.Ser732Asn					FNDC3A_ENST00000541916.1_Missense_Mutation_p.S732N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S676N	p.S732N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	19	2500	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	732			Fibronectin type-III 5.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2195G>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	4.569	0.105681	0.08780	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56941	0.43;0.43;0.43	5.47	4.44	0.53790	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134244	0.50627	D	0.000102	T	0.39436	0.1078	L	0.31804	0.96	0.48452	D	0.999658	B;B	0.11235	0.002;0.004	B;B	0.16722	0.008;0.016	T	0.16276	-1.0408	10	0.21014	T	0.42	-5.6478	13.0514	0.58957	0.1329:0.0:0.8671:0.0	.	676;732	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	N	732;668;732;676	ENSP00000417257:S732N;ENSP00000441831:S732N;ENSP00000381362:S676N	ENSP00000338579:S668N	S	+	2	0	FNDC3A	48663490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.571000	0.60879	2.583000	0.87209	0.655000	0.94253	AGC		0.378	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		39	39	0	0	0	1	0	39	39				
ZNF525	170958	broad.mit.edu	37	19	53884421	53884421	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53884421C>T	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Silent_p.L197L|ZNF525_ENST00000467003.1_Silent_p.L161L|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						GGATAATTTTCTGAATTATTC	0.373																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(481-483)Ctg>Ttg		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884421C>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884421C>T	Exception_encountered					ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Silent_p.L197L|ZNF525_ENST00000593918.1_Intron	p.L161L							4	682	+								Q8TF23	Silent	SNP	ENST00000355326.3	37	c.481C>T																																																																																					0.373	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		21	38	0	0	0	1	0	21	38				
CSNK1A1	1452	broad.mit.edu	37	5	148885022	148885022	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148885022T>G	ENST00000377843.2	-	9	1473	c.994A>C	c.(994-996)Agt>Cgt	p.S332R	CSNK1A1_ENST00000515435.1_Intron|CSNK1A1_ENST00000261798.5_Intron|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S360R|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.S92R|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.S129R|CSNK1A1_ENST00000504676.1_Intron	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	332					cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTCATGTTACTCTTGGTTTTG	0.448																																					Colon(5;64 69 1309 10383)	ENST00000377843.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(994-996)Agt>Cgt		casein kinase 1, alpha 1							114.0	119.0	117.0					5																	148885022		2203	4300	6503	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148885022T>G	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.994A>C	5.37:g.148885022T>G	ENSP00000367074:p.Ser332Arg					CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S360R|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.S129R|CSNK1A1_ENST00000504676.1_Intron|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.S92R|CSNK1A1_ENST00000261798.5_Intron|CSNK1A1_ENST00000515435.1_Intron	p.S332R	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	9	1473	-			332					D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.994A>C	CCDS47303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.60|11.60	1.686531|1.686531	0.29962|0.29962	.|.	.|.	ENSG00000113712|ENSG00000113712	ENST00000503350|ENST00000377843;ENST00000515768	.|T;T	.|0.58358	.|0.6;0.34	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.133307	.|0.47852	.|U	.|0.000208	T|T	0.31327|0.31327	0.0793|0.0793	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24618	.|0.057;0.107;0.039	.|B;B;B	.|0.26416	.|0.01;0.069;0.023	T|T	0.16482|0.16482	-1.0401|-1.0401	5|10	.|0.23302	.|T	.|0.38	.|.	15.4753|15.4753	0.75474|0.75474	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|271;332;360	.|B4DER9;P48729;P48729-2	.|.;KC1A_HUMAN;.	S|R	162|332;360	.|ENSP00000367074:S332R;ENSP00000421689:S360R	.|ENSP00000367074:S332R	R|S	-|-	3|1	2|0	CSNK1A1|CSNK1A1	148865215|148865215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.081000|6.081000	0.71309|0.71309	2.054000|2.054000	0.61138|0.61138	0.477000|0.477000	0.44152|0.44152	AGA|AGT		0.448	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		23	43	0	0	0	1	0	23	43				
ABCA12	26154	broad.mit.edu	37	2	215876285	215876285	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215876285T>G	ENST00000272895.7	-	17	2429	c.2210A>C	c.(2209-2211)gAa>gCa	p.E737A	ABCA12_ENST00000389661.4_Missense_Mutation_p.E419A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	737					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTAAATATTCAGTGGTAAT	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2209-2211)gAa>gCa		ATP-binding cassette, sub-family A (ABC1), member 12							157.0	158.0	157.0					2																	215876285		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215876285T>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2210A>C	2.37:g.215876285T>G	ENSP00000272895:p.Glu737Ala					ABCA12_ENST00000389661.4_Missense_Mutation_p.E419A	p.E737A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	17	2429	-		Renal(323;0.127)	737					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2210A>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026646	0.07589	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88354	-2.37;-2.37	5.16	3.92	0.45320	.	0.860140	0.10357	N	0.684375	T	0.75627	0.3875	N	0.08118	0	0.19300	N	0.999978	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.62006	-0.6945	10	0.32370	T	0.25	.	5.6824	0.17784	0.1671:0.0:0.1738:0.659	.	737;419	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	A	737;419	ENSP00000272895:E737A;ENSP00000374312:E419A	ENSP00000272895:E737A	E	-	2	0	ABCA12	215584530	0.230000	0.23740	0.431000	0.26735	0.816000	0.46133	2.474000	0.45154	2.073000	0.62155	0.533000	0.62120	GAA		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		43	64	0	0	0	1	0	43	64				
ZIC4	84107	broad.mit.edu	37	3	147113651	147113651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:147113651G>A	ENST00000383075.3	-	3	1188	c.676C>T	c.(676-678)Cga>Tga	p.R226*	ZIC4_ENST00000484399.1_Nonsense_Mutation_p.R226*|ZIC4_ENST00000425731.3_Nonsense_Mutation_p.R264*|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.R276*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.R226*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	226						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGTGAGTTCGTTTGTGTATT	0.557																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(676-678)Cga>Tga		Zic family member 4							75.0	86.0	82.0					3																	147113651		2160	4287	6447	SO:0001587	stop_gained	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113651G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.676C>T	3.37:g.147113651G>A	ENSP00000372553:p.Arg226*					ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.R226*|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.R276*|ZIC4_ENST00000425731.3_Nonsense_Mutation_p.R264*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.R226*	p.R226*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	1188	-			226					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Nonsense_Mutation	SNP	ENST00000383075.3	37	c.676C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219445	0.79464	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	.	.	.	5.27	1.98	0.26296	.	0.000000	0.41938	D	0.000794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2195	0.31532	0.0:0.0955:0.238:0.6665	.	.	.	.	X	226;264;276;226;226;226	.	ENSP00000372553:R226X	R	-	1	2	ZIC4	148596341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.729000	0.54999	0.527000	0.28560	0.561000	0.74099	CGA		0.557	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			36	48	0	0	0	1	0	36	48				
DCAF8L1	139425	broad.mit.edu	37	X	27998474	27998474	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998474C>T	ENST00000441525.1	-	1	1092	c.978G>A	c.(976-978)gtG>gtA	p.V326V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	326										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTTGTTACCACAACTTTTG	0.433																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(976-978)gtG>gtA		DDB1 and CUL4 associated factor 8-like 1							93.0	80.0	84.0					X																	27998474		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998474C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.978G>A	X.37:g.27998474C>T							p.V326V	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1092	-			326					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.978G>A	CCDS35222.1																																																																																				0.433	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		39	41	0	0	0	1	0	39	41				
DNAJC6	9829	broad.mit.edu	37	1	65845091	65845091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65845091G>T	ENST00000395325.3	+	5	536	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E184*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E114*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	127	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTAGGTCTCAGAATGCAGTTG	0.453																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(379-381)Gaa>Taa		DnaJ (Hsp40) homolog, subfamily C, member 6							144.0	143.0	144.0					1																	65845091		2203	4300	6503	SO:0001587	stop_gained	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65845091G>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.379G>T	1.37:g.65845091G>T	ENSP00000378735:p.Glu127*					DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E114*|DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E184*	p.E127*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			5	536	+			127			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Nonsense_Mutation	SNP	ENST00000395325.3	37	c.379G>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957441	0.97964	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.3939	0.94598	0.0:0.0:1.0:0.0	.	.	.	.	X	114;127;184	.	ENSP00000263441:E114X	E	+	1	0	DNAJC6	65617679	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.263000	0.95617	2.816000	0.96949	0.561000	0.74099	GAA		0.453	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			46	57	1	0	1.00001e-27	1	1.33502e-27	46	57				
FUK	197258	broad.mit.edu	37	16	70516638	70516638	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70516638G>A	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.I638I	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TAACCTCCTCGATGTTGTGGG	0.572																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(1912-1914)atC>atT		component of oligomeric golgi complex 4							242.0	171.0	195.0					16																	70516638		2198	4300	6498	SO:0001628	intergenic_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70516638G>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70516638G>A							p.I638I	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			15	1935	-		Ovarian(137;0.0694)	634			D domain.		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.1914C>T	CCDS10891.2																																																																																				0.572	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		13	14	0	0	0	1	0	13	14				
MAPKAP1	79109	broad.mit.edu	37	9	128305420	128305420	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128305420A>G	ENST00000373498.1	-	6	944	c.876T>C	c.(874-876)atT>atC	p.I292I	MAPKAP1_ENST00000373497.5_Silent_p.I41I|MAPKAP1_ENST00000394060.3_Silent_p.I292I|MAPKAP1_ENST00000373511.2_Silent_p.I292I|MAPKAP1_ENST00000373503.3_Silent_p.I100I|MAPKAP1_ENST00000265960.3_Silent_p.I292I|MAPKAP1_ENST00000350766.3_Silent_p.I292I|MAPKAP1_ENST00000394063.1_Silent_p.I100I			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	292					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGTCCACCTGAATAAGGGAGA	0.393																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(874-876)atT>atC		mitogen-activated protein kinase associated protein 1							155.0	147.0	150.0					9																	128305420		2203	4300	6503	SO:0001819	synonymous_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128305420A>G	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.876T>C	9.37:g.128305420A>G						MAPKAP1_ENST00000350766.3_Silent_p.I292I|MAPKAP1_ENST00000373503.3_Silent_p.I100I|MAPKAP1_ENST00000373498.1_Silent_p.I292I|MAPKAP1_ENST00000373511.2_Silent_p.I292I|MAPKAP1_ENST00000394063.1_Silent_p.I100I|MAPKAP1_ENST00000373497.5_Silent_p.I41I|MAPKAP1_ENST00000394060.3_Silent_p.I292I	p.I292I	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			7	1208	-			292					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	c.876T>C	CCDS35140.1																																																																																				0.393	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			16	92	0	0	0	1	0	16	92				
PTP4A3	11156	broad.mit.edu	37	8	142444029	142444029	+	IGR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142444029G>T	ENST00000521578.1	+	0	1717				CTD-3064M3.7_ENST00000606664.1_RNA|MROH5_ENST00000430863.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3						peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGGAGGGGAAGGCGGTGGGTG	0.597																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							29.0	35.0	33.0					8																	142444029		2033	4153	6186	SO:0001628	intergenic_variant	389690							g.chr8:142444029G>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365			8.37:g.142444029G>T								NM_207414.2	NP_997297.2					0	4066	-								Q8IVN5|Q99849|Q9BTW5	RNA	SNP	ENST00000521578.1	37		CCDS6383.1																																																																																				0.597	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		3	7	1	0	0.115264	1	0.117355	3	7				
ACAD8	27034	broad.mit.edu	37	11	134130998	134130998	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134130998G>A	ENST00000281182.4	+	7	872	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	ACAD8_ENST00000537423.1_Missense_Mutation_p.A179T|ACAD8_ENST00000374752.4_Missense_Mutation_p.A129T|ACAD8_ENST00000543332.1_Missense_Mutation_p.A158T|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	256					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TGTCCCTGTGGCCAACAGAAT	0.572																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(766-768)Gcc>Acc		acyl-CoA dehydrogenase family, member 8							63.0	58.0	59.0					11																	134130998		2201	4296	6497	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134130998G>A	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.766G>A	11.37:g.134130998G>A	ENSP00000281182:p.Ala256Thr					ACAD8_ENST00000374752.4_Missense_Mutation_p.A129T|ACAD8_ENST00000537423.1_Missense_Mutation_p.A179T|ACAD8_ENST00000543332.1_Missense_Mutation_p.A158T|ACAD8_ENST00000524547.1_3'UTR	p.A256T	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	7	872	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	256					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.766G>A	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481665	0.44147	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000374752;ENST00000537915	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.44	4.53	0.55603	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.283096	0.40640	N	0.001055	D	0.95965	0.8686	L	0.33668	1.02	0.31574	N	0.655983	B;B;B	0.13145	0.007;0.004;0.007	B;B;B	0.08055	0.002;0.003;0.003	D	0.94859	0.8020	10	0.49607	T	0.09	.	10.4888	0.44739	0.1494:0.0:0.8506:0.0	.	179;129;256	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	T	256;179;158;129;218	ENSP00000281182:A256T;ENSP00000443763:A179T;ENSP00000438302:A158T;ENSP00000363884:A129T	ENSP00000281182:A256T	A	+	1	0	ACAD8	133636208	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	1.822000	0.39052	1.304000	0.44892	0.561000	0.74099	GCC		0.572	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		11	15	0	0	0	1	0	11	15				
LRGUK	136332	broad.mit.edu	37	7	133827913	133827913	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133827913A>C	ENST00000285928.2	+	4	655	c.586A>C	c.(586-588)Aag>Cag	p.K196Q		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	196						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CAAAAACCTCAAGGTAGACTT	0.328																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(586-588)Aag>Cag		leucine-rich repeats and guanylate kinase domain containing							121.0	114.0	117.0					7																	133827913		2203	4299	6502	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133827913A>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.586A>C	7.37:g.133827913A>C	ENSP00000285928:p.Lys196Gln						p.K196Q	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			4	655	+			196					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.586A>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	8.054	0.766670	0.15983	.	.	ENSG00000155530	ENST00000285928	T	0.23950	1.88	4.65	4.65	0.58169	.	0.073058	0.52532	D	0.000067	T	0.18882	0.0453	L	0.39692	1.235	0.33657	D	0.609244	B	0.19706	0.038	B	0.14023	0.01	T	0.20240	-1.0281	10	0.16896	T	0.51	-12.0564	9.8319	0.40948	0.8276:0.1724:0.0:0.0	.	196	Q96M69	LRGUK_HUMAN	Q	196	ENSP00000285928:K196Q	ENSP00000285928:K196Q	K	+	1	0	LRGUK	133478453	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	3.232000	0.51302	1.715000	0.51383	0.460000	0.39030	AAG		0.328	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		4	147	0	0	0	1	0	4	147				
ESYT1	23344	broad.mit.edu	37	12	56536630	56536630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536630C>T	ENST00000394048.5	+	27	3164	c.2900C>T	c.(2899-2901)gCt>gTt	p.A967V	ESYT1_ENST00000541590.1_Missense_Mutation_p.A977V|ESYT1_ENST00000267113.4_Missense_Mutation_p.A977V|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	967					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCCCTTGAGGCTCCAGCCGGG	0.517																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2899-2901)gCt>gTt		extended synaptotagmin-like protein 1							60.0	66.0	64.0					12																	56536630		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536630C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2900C>T	12.37:g.56536630C>T	ENSP00000377612:p.Ala967Val					ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.A977V|ESYT1_ENST00000267113.4_Missense_Mutation_p.A977V	p.A967V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			27	3164	+			967					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2900C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606771	0.28623	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.56275	0.47;0.47;0.47	5.08	3.14	0.36123	C2 calcium/lipid-binding domain, CaLB (1);	0.729959	0.12203	N	0.490033	T	0.32882	0.0844	L	0.34521	1.04	0.09310	N	0.999999	P;B	0.38078	0.617;0.049	B;B	0.24269	0.052;0.016	T	0.07046	-1.0793	10	0.27785	T	0.31	-3.4502	7.5027	0.27526	0.0:0.7854:0.0:0.2146	.	977;967	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	V	967;921;977;977	ENSP00000377612:A967V;ENSP00000267113:A977V;ENSP00000445952:A977V	ENSP00000267113:A977V	A	+	2	0	ESYT1	54822897	0.016000	0.18221	0.003000	0.11579	0.180000	0.23129	0.280000	0.18790	0.582000	0.29556	-0.367000	0.07326	GCT		0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		20	43	0	0	0	1	0	20	43				
SLC25A19	60386	broad.mit.edu	37	17	73274401	73274401	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73274401G>A	ENST00000402418.3	-	4	1384	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SLC25A19_ENST00000375261.4_Missense_Mutation_p.R102C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R159C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R159C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R159C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	159					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ACGGCGTGGCGCAGCGTATTA	0.567																																						ENST00000402418.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(475-477)Cgc>Tgc		solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19							89.0	80.0	83.0					17																	73274401		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73274401G>A		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.475C>T	17.37:g.73274401G>A	ENSP00000385312:p.Arg159Cys					SLC25A19_ENST00000375261.4_Missense_Mutation_p.R102C|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R159C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R159C	p.R159C			Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		4	1384	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		159					E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.475C>T	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	G	5.945	0.358333	0.11239	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.63	2.49	0.30216	Mitochondrial carrier domain (2);	0.288377	0.37809	N	0.001938	D	0.84763	0.5544	M	0.84846	2.72	0.42420	D	0.992637	B;D	0.65815	0.019;0.995	B;P	0.58970	0.002;0.849	T	0.82627	-0.0364	10	0.38643	T	0.18	-3.8147	9.7371	0.40395	0.0665:0.0:0.6837:0.2499	.	102;159	E9PF74;Q9HC21	.;TPC_HUMAN	C	159;159;159;159;102	ENSP00000397818:R159C;ENSP00000402202:R159C;ENSP00000319574:R159C;ENSP00000385312:R159C;ENSP00000364410:R102C	ENSP00000319574:R159C	R	-	1	0	SLC25A19	70785996	0.998000	0.40836	0.004000	0.12327	0.002000	0.02628	2.849000	0.48286	0.292000	0.22492	-0.133000	0.14855	CGC		0.567	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		10	80	0	0	0	1	0	10	80				
DDX60L	91351	broad.mit.edu	37	4	169353660	169353660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169353660G>A	ENST00000511577.1	-	12	1709	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	DDX60L_ENST00000505890.1_Missense_Mutation_p.H488Y|DDX60L_ENST00000260184.7_Missense_Mutation_p.H488Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	488							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTGAGCATGCCAGTGCAAA	0.343																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1462-1464)Cat>Tat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							84.0	80.0	81.0					4																	169353660		2016	4208	6224	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169353660G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1462C>T	4.37:g.169353660G>A	ENSP00000422423:p.His488Tyr					DDX60L_ENST00000260184.7_Missense_Mutation_p.H488Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.H488Y	p.H488Y			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	12	1709	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	488					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.1462C>T		.	.	.	.	.	.	.	.	.	.	G	11.03	1.518092	0.27211	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.27557	1.66;1.66;1.66;2.22	3.59	1.82	0.25136	.	0.000000	0.37348	U	0.002127	T	0.49660	0.1570	M	0.70595	2.14	0.23003	N	0.99845	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.999	T	0.37407	-0.9707	10	0.87932	D	0	.	9.1388	0.36890	0.1873:0.0:0.8127:0.0	.	488;488;488	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	Y	488;488;488;216	ENSP00000260184:H488Y;ENSP00000422423:H488Y;ENSP00000422202:H488Y;ENSP00000421026:H216Y	ENSP00000260184:H488Y	H	-	1	0	DDX60L	169590235	1.000000	0.71417	0.184000	0.23157	0.041000	0.13682	3.048000	0.49862	0.144000	0.18951	0.467000	0.42956	CAT		0.343	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		3	29	0	0	0	1	0	3	29				
SLC30A5	64924	broad.mit.edu	37	5	68417568	68417568	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68417568C>A	ENST00000396591.3	+	13	2227	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	539					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTATCTGTGCCTTtagccatg	0.428																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1615-1617)gcC>gcA		solute carrier family 30 (zinc transporter), member 5							61.0	50.0	53.0					5																	68417568		2203	4300	6503	SO:0001819	synonymous_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68417568C>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1617C>A	5.37:g.68417568C>A						CTC-498J12.3_ENST00000504129.1_RNA	p.A539A	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	13	2227	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	539					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	c.1617C>A	CCDS3996.1																																																																																				0.428	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			3	18	1	0	6.4e-05	1	7.11719e-05	3	18				
ABCG5	64240	broad.mit.edu	37	2	44053537	44053537	+	Missense_Mutation	SNP	C	C	T	rs148186696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44053537C>T	ENST00000260645.1	-	6	897	c.758G>A	c.(757-759)cGt>cAt	p.R253H	ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	253	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAGCTCAGAACGGGGCTGGTG	0.537																																						ENST00000260645.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(757-759)cGt>cAt		ATP-binding cassette, sub-family G (WHITE), member 5		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	78.0	81.0		758	5.6	1.0	2	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCG5	NM_022436.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	253/652	44053537	2,13004	2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44053537C>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.758G>A	2.37:g.44053537C>T	ENSP00000260645:p.Arg253His					ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	p.R253H	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN			6	897	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	253			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.758G>A	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025531	0.93518	2.27E-4	1.16E-4	ENSG00000138075	ENST00000260645	T	0.42900	0.96	5.56	5.56	0.83823	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69154	-0.5220	10	0.66056	D	0.02	.	19.1208	0.93362	0.0:1.0:0.0:0.0	.	253	Q9H222	ABCG5_HUMAN	H	253	ENSP00000260645:R253H	ENSP00000260645:R253H	R	-	2	0	ABCG5	43907041	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.631000	0.67812	2.612000	0.88384	0.655000	0.94253	CGT		0.537	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		21	32	0	0	0	1	0	21	32				
EPHA8	2046	broad.mit.edu	37	1	22902764	22902764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22902764G>A	ENST00000166244.3	+	3	286	c.214G>A	c.(214-216)Gtt>Att	p.V72I	EPHA8_ENST00000538803.1_Missense_Mutation_p.V72I|EPHA8_ENST00000374644.4_Missense_Mutation_p.V72I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	72	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGTACCAGGTTTGCAACGT	0.602																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(214-216)Gtt>Att		EPH receptor A8							106.0	102.0	103.0					1																	22902764		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902764G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.214G>A	1.37:g.22902764G>A	ENSP00000166244:p.Val72Ile					EPHA8_ENST00000374644.4_Missense_Mutation_p.V72I|EPHA8_ENST00000538803.1_Missense_Mutation_p.V72I	p.V72I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	286	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	72					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.214G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819719	0.90873	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.11604	2.76;2.76;2.76	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.31420	0.0796	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.63046	0.992;0.99	D;D	0.79108	0.992;0.979	T	0.03231	-1.1058	10	0.62326	D	0.03	.	15.8685	0.79084	0.0:0.0:1.0:0.0	.	72;72	P29322;P29322-2	EPHA8_HUMAN;.	I	72	ENSP00000166244:V72I;ENSP00000363775:V72I;ENSP00000440274:V72I	ENSP00000166244:V72I	V	+	1	0	EPHA8	22775351	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.657000	0.98554	2.316000	0.78162	0.442000	0.29010	GTT		0.602	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		34	71	0	0	0	1	0	34	71				
LEPRE1	64175	broad.mit.edu	37	1	43224620	43224620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224620G>T	ENST00000296388.5	-	4	894	c.843C>A	c.(841-843)aaC>aaA	p.N281K	LEPRE1_ENST00000236040.4_Missense_Mutation_p.N281K|LEPRE1_ENST00000397054.3_Missense_Mutation_p.N281K			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	281					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGACACAGTTCTGCTTAC	0.418																																						ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(841-843)aaC>aaA		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						104.0	93.0	97.0					1																	43224620		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43224620G>T	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.843C>A	1.37:g.43224620G>T	ENSP00000296388:p.Asn281Lys					LEPRE1_ENST00000296388.5_Missense_Mutation_p.N281K|LEPRE1_ENST00000397054.3_Missense_Mutation_p.N281K	p.N281K	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			4	883	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	281					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.843C>A	CCDS472.2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857942	0.32791	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.37235	1.21;1.21;1.21	5.9	4.9	0.64082	.	0.279497	0.44483	D	0.000456	T	0.22166	0.0534	N	0.20685	0.6	0.45733	D	0.998635	B;B;B	0.30236	0.274;0.025;0.105	B;B;B	0.33960	0.173;0.022;0.058	T	0.05886	-1.0858	10	0.12430	T	0.62	-36.038	9.5448	0.39273	0.1244:0.0:0.8756:0.0	.	281;146;281	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	K	281;281;281;146	ENSP00000380245:N281K;ENSP00000236040:N281K;ENSP00000296388:N281K	ENSP00000236040:N281K	N	-	3	2	LEPRE1	42997207	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.419000	0.59835	2.786000	0.95864	0.563000	0.77884	AAC		0.418	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		25	57	1	0	1.17739e-12	1	1.48344e-12	25	57				
CHRNG	1146	broad.mit.edu	37	2	233408362	233408362	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233408362T>A	ENST00000389494.3	+	9	1009	c.988T>A	c.(988-990)Tcc>Acc	p.S330T	CHRNG_ENST00000389492.3_Missense_Mutation_p.S278T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	330					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	GCTCAATGTCTCCTTGCGGTC	0.622																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(988-990)Tcc>Acc		cholinergic receptor, nicotinic, gamma (muscle)							225.0	160.0	182.0					2																	233408362		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233408362T>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.988T>A	2.37:g.233408362T>A	ENSP00000374145:p.Ser330Thr					CHRNG_ENST00000389492.3_Missense_Mutation_p.S278T	p.S330T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	9	1009	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	330					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.988T>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.148304	0.57151	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.83992	-1.79;-1.79	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	M	0.83012	2.62	0.47123	D	0.99932	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	D	0.92148	0.5726	10	0.54805	T	0.06	.	15.3288	0.74190	0.0:0.0:0.0:1.0	.	278;330	Q14DU4;P07510	.;ACHG_HUMAN	T	330;330;278	ENSP00000374145:S330T;ENSP00000374143:S278T	ENSP00000374143:S278T	S	+	1	0	CHRNG	233116606	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.540000	0.67205	2.024000	0.59613	0.379000	0.24179	TCC		0.622	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		14	21	0	0	0	1	0	14	21				
SHANK2	22941	broad.mit.edu	37	11	70332438	70332438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70332438G>A	ENST00000423696.2	-	15	2859	c.2823C>T	c.(2821-2823)gaC>gaT	p.D941D	SHANK2_ENST00000409161.1_Silent_p.D724D|SHANK2_ENST00000338508.4_Silent_p.D1321D|SHANK2_ENST00000449833.2_Silent_p.D725D			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	941					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTAGTGGCGTCCACGGTGT	0.597																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3961-3963)gaC>gaT		SH3 and multiple ankyrin repeat domains 2							121.0	106.0	112.0					11																	70332438		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332438G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2823C>T	11.37:g.70332438G>A						SHANK2_ENST00000423696.2_Silent_p.D941D|SHANK2_ENST00000449833.2_Silent_p.D725D|SHANK2_ENST00000409161.1_Silent_p.D724D	p.D1321D			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3962	-			941					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3963C>T																																																																																					0.597	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	90	0	0	0	1	0	4	90				
BARHL2	343472	broad.mit.edu	37	1	91182144	91182144	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91182144G>A	ENST00000370445.4	-	1	650	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	203					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ATTTGATGTCGCTCTGGGAAT	0.607																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(607-609)agC>agT		BarH-like homeobox 2							80.0	69.0	72.0					1																	91182144		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182144G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.609C>T	1.37:g.91182144G>A							p.S203S	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	650	-		all_lung(203;0.0263)|Lung SC(238;0.128)	203					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.609C>T	CCDS730.1																																																																																				0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			21	83	0	0	0	1	0	21	83				
SEC24D	9871	broad.mit.edu	37	4	119662179	119662179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119662179C>A	ENST00000280551.6	-	16	2247	c.2009G>T	c.(2008-2010)aGa>aTa	p.R670I	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.R226I|SEC24D_ENST00000379735.5_Missense_Mutation_p.R671I|SEC24D_ENST00000419654.2_Missense_Mutation_p.R226I|SEC24D_ENST00000511481.1_Missense_Mutation_p.R301I			O94855	SC24D_HUMAN	SEC24 family member D	670					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAATTGTTGTCTATCCAAGTG	0.308																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2011-2013)aGa>aTa		SEC24 family member D							82.0	84.0	83.0					4																	119662179		2199	4293	6492	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119662179C>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2009G>T	4.37:g.119662179C>A	ENSP00000280551:p.Arg670Ile					SEC24D_ENST00000511481.1_Missense_Mutation_p.R301I|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.R226I|SEC24D_ENST00000280551.6_Missense_Mutation_p.R670I|SEC24D_ENST00000419654.2_Missense_Mutation_p.R226I	p.R671I	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			16	2283	-			670					Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.2012G>T	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423185	0.62733	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.69	5.69	0.88448	Sec23/Sec24, trunk domain (1);	0.129646	0.85682	D	0.000000	T	0.26702	0.0653	N	0.12569	0.235	0.41939	D	0.990609	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.06427	-1.0827	10	0.36615	T	0.2	-9.4829	13.0647	0.59025	0.0:0.9268:0.0:0.0732	.	671;670	O94855-2;O94855	.;SC24D_HUMAN	I	670;671;226;301;226	ENSP00000280551:R670I;ENSP00000369059:R671I;ENSP00000409775:R226I;ENSP00000425491:R301I;ENSP00000388324:R226I	ENSP00000280551:R670I	R	-	2	0	SEC24D	119881627	0.998000	0.40836	0.942000	0.38095	0.981000	0.71138	4.955000	0.63638	2.697000	0.92050	0.555000	0.69702	AGA		0.308	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			10	5	1	0	0.000442599	1	0.00048047	10	5				
CHEK2	11200	broad.mit.edu	37	22	29121084	29121084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121084G>A	ENST00000405598.1	-	5	664	c.473C>T	c.(472-474)gCa>gTa	p.A158V	CHEK2_ENST00000404276.1_Missense_Mutation_p.A158V|CHEK2_ENST00000382566.1_Missense_Mutation_p.A158V|CHEK2_ENST00000382580.2_Missense_Mutation_p.A201V|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.A158V|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.A158V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.A158V|CHEK2_ENST00000403642.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	158	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTATGTATGCAATGTAAGA	0.348			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(601-603)gCa>gTa	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							103.0	104.0	103.0					22																	29121084		2202	4300	6502	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121084G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.473C>T	22.37:g.29121084G>A	ENSP00000386087:p.Ala158Val					CHEK2_ENST00000328354.6_Missense_Mutation_p.A158V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.A158V|CHEK2_ENST00000348295.3_Missense_Mutation_p.A158V|CHEK2_ENST00000382566.1_Missense_Mutation_p.A158V|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.A158V|CHEK2_ENST00000402731.1_Missense_Mutation_p.A158V	p.A201V	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			5	677	-			158					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.602C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929152	0.34096	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D	0.88975	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-2.45	5.87	4.86	0.63082	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.211440	0.49305	N	0.000150	T	0.71736	0.3375	N	0.03029	-0.43	0.43275	D	0.99523	B;B;B;B;B	0.12013	0.004;0.005;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.002;0.01;0.004;0.004;0.004	T	0.67707	-0.5601	10	0.05351	T	0.99	-7.8656	13.2111	0.59825	0.0771:0.0:0.9229:0.0	.	158;158;158;158;201	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	V	158;158;158;158;158;201;158;189;168	ENSP00000329012:A158V;ENSP00000372007:A158V;ENSP00000329178:A158V;ENSP00000385747:A158V;ENSP00000386087:A158V;ENSP00000372023:A201V;ENSP00000384835:A158V;ENSP00000408065:A189V;ENSP00000381099:A168V	ENSP00000329178:A158V	A	-	2	0	CHEK2	27451084	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.946000	0.63576	1.463000	0.47967	0.585000	0.79938	GCA		0.348	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		21	71	0	0	0	1	0	21	71				
MKL1	57591	broad.mit.edu	37	22	40805486	40805486	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40805486C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.A710V	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TGCTGCTTTGCCTTCAGCCTC	0.627			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(2128-2130)gCc>gTc		small G protein signaling modulator 3							104.0	102.0	103.0					22																	40805486		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40805486C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805486C>T							p.A710V	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			21	2318	+			710			RUN.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2129C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	c	31	5.088414	0.94100	.	.	ENSG00000100359	ENST00000248929;ENST00000427834	T;T	0.11821	2.74;2.74	4.76	4.76	0.60689	RUN (3);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	M	0.68317	2.08	0.80722	D	1	P;P;P	0.51351	0.931;0.944;0.88	P;P;P	0.54544	0.696;0.755;0.752	T	0.06110	-1.0845	10	0.72032	D	0.01	.	18.1466	0.89659	0.0:1.0:0.0:0.0	.	621;738;710	B4DVE3;Q96HU1-2;Q96HU1	.;.;SGSM3_HUMAN	V	710;155	ENSP00000248929:A710V;ENSP00000407286:A155V	ENSP00000248929:A710V	A	+	2	0	SGSM3	39135432	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.345000	0.59360	2.364000	0.80123	0.457000	0.33378	GCC		0.627	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		38	59	0	0	0	1	0	38	59				
HLCS	3141	broad.mit.edu	37	21	38128859	38128859	+	Nonsense_Mutation	SNP	G	G	A	rs146448211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128859G>A	ENST00000399120.1	-	11	3223	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	HLCS_ENST00000336648.4_Nonsense_Mutation_p.R665*	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	665					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ACCCAGTATCGGTAATAAAGG	0.408																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24	GRCh37	CD991747|CM053925	HLCS	D|M	rs146448211	c.(1993-1995)Cga>Tga		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)	G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	138.0	113.0	122.0		1993,1993,1993	3.6	1.0	21	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained,stop-gained,stop-gained	HLCS	NM_000411.6,NM_001242784.1,NM_001242785.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	665/727,665/727,665/727	38128859	2,13004	2203	4300	6503	SO:0001587	stop_gained	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38128859G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1993C>T	21.37:g.38128859G>A	ENSP00000382071:p.Arg665*					HLCS_ENST00000336648.3_Nonsense_Mutation_p.R665*	p.R665*	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			11	3223	-		Myeloproliferative disorder(46;0.0422)	665					B2RAH1|D3DSG6|Q99451	Nonsense_Mutation	SNP	ENST00000399120.1	37	c.1993C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	48	14.630084	0.99803	0.0	2.33E-4	ENSG00000159267	ENST00000399120;ENST00000336648	.	.	.	4.74	3.57	0.40892	.	0.060993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.5873	0.50925	0.0:0.0:0.1524:0.8476	.	.	.	.	X	665	.	ENSP00000338387:R665X	R	-	1	2	HLCS	37050729	1.000000	0.71417	0.995000	0.50966	0.417000	0.31264	5.658000	0.68003	0.656000	0.30886	-0.410000	0.06199	CGA		0.408	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			36	54	0	0	0	1	0	36	54				
TAF5L	27097	broad.mit.edu	37	1	229738320	229738320	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738320G>A	ENST00000366676.1	-	3	593	c.594C>T	c.(592-594)gaC>gaT	p.D198D	TAF5L_ENST00000258281.2_Silent_p.D198D|TAF5L_ENST00000366675.3_Silent_p.D198D			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	198					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGGCTGCACGTCAAGATGAA	0.527																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(592-594)gaC>gaT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							150.0	148.0	149.0					1																	229738320		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738320G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.594C>T	1.37:g.229738320G>A						TAF5L_ENST00000258281.2_Silent_p.D198D|TAF5L_ENST00000366676.1_Silent_p.D198D	p.D198D	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	682	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	198					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.594C>T	CCDS1581.1																																																																																				0.527	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		30	45	0	0	0	1	0	30	45				
BRWD1	54014	broad.mit.edu	37	21	40572205	40572205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40572205C>T	ENST00000333229.2	-	39	5020	c.4693G>A	c.(4693-4695)Ggg>Agg	p.G1565R	BRWD1_ENST00000380800.3_Missense_Mutation_p.G1565R|BRWD1_ENST00000342449.3_Missense_Mutation_p.G1565R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1565					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGGATAGCCCACTGCGTGAG	0.438																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4693-4695)Ggg>Agg		bromodomain and WD repeat domain containing 1							139.0	138.0	139.0					21																	40572205		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40572205C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4693G>A	21.37:g.40572205C>T	ENSP00000330753:p.Gly1565Arg					BRWD1_ENST00000333229.2_Missense_Mutation_p.G1565R|BRWD1_ENST00000380800.3_Missense_Mutation_p.G1565R	p.G1565R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			39	4771	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1565					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4693G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830991	0.50845	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.55930	0.49;0.53;0.61	4.95	3.99	0.46301	.	0.283481	0.30401	N	0.009701	T	0.49949	0.1587	M	0.68952	2.095	0.80722	D	1	B;B	0.26809	0.117;0.16	B;B	0.27887	0.084;0.044	T	0.51639	-0.8680	10	0.72032	D	0.01	-3.694	9.5567	0.39343	0.0:0.8929:0.0:0.1071	.	1565;1565	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	R	1565	ENSP00000330753:G1565R;ENSP00000344333:G1565R;ENSP00000370178:G1565R	ENSP00000330753:G1565R	G	-	1	0	BRWD1	39494075	0.868000	0.29978	0.736000	0.30914	0.919000	0.55068	1.978000	0.40598	0.955000	0.37878	0.563000	0.77884	GGG		0.438	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		31	57	0	0	0	1	0	31	57				
GON4L	54856	broad.mit.edu	37	1	155740923	155740923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155740923C>T	ENST00000368331.1	-	19	2629	c.2581G>A	c.(2581-2583)Gcc>Acc	p.A861T	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.A861T|GON4L_ENST00000271883.5_Missense_Mutation_p.A861T|GON4L_ENST00000437809.1_Missense_Mutation_p.A861T	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	861					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTGGTGGGCAGTTTTGCAG	0.443																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2581-2583)Gcc>Acc		gon-4-like (C. elegans)							261.0	217.0	232.0					1																	155740923		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155740923C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2581G>A	1.37:g.155740923C>T	ENSP00000357315:p.Ala861Thr					GON4L_ENST00000361040.5_Missense_Mutation_p.A861T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.A861T|GON4L_ENST00000368331.1_Missense_Mutation_p.A861T	p.A861T			Q3T8J9	GON4L_HUMAN			19	2703	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		861					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2581G>A		.	.	.	.	.	.	.	.	.	.	C	18.94	3.728779	0.69074	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.13778	2.75;2.75;2.75;2.56	4.18	4.18	0.49190	.	0.328452	0.26258	N	0.025413	T	0.20618	0.0496	M	0.74647	2.275	0.41198	D	0.986357	P;P;P;P	0.52061	0.95;0.917;0.857;0.912	P;B;B;P	0.52909	0.713;0.437;0.424;0.628	T	0.02743	-1.1116	10	0.59425	D	0.04	.	16.2633	0.82562	0.0:1.0:0.0:0.0	.	861;57;861;861	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	T	861	ENSP00000396117:A861T;ENSP00000357315:A861T;ENSP00000271883:A861T;ENSP00000354322:A861T	ENSP00000271883:A861T	A	-	1	0	GON4L	154007547	0.998000	0.40836	0.975000	0.42487	0.447000	0.32167	3.091000	0.50199	2.149000	0.67028	0.591000	0.81541	GCC		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		37	71	0	0	0	1	0	37	71				
UBA7	7318	broad.mit.edu	37	3	49849917	49849917	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849917T>A	ENST00000333486.3	-	6	776	c.618A>T	c.(616-618)ggA>ggT	p.G206G	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCACCAAGTCTCCATCACGGA	0.567																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(616-618)ggA>ggT		ubiquitin-like modifier activating enzyme 7							84.0	79.0	81.0					3																	49849917		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49849917T>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.618A>T	3.37:g.49849917T>A						UBA7_ENST00000494212.1_5'UTR	p.G206G	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	6	776	-			206			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.618A>T	CCDS2805.1																																																																																				0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		5	50	0	0	0	1	0	5	50				
SHANK1	50944	broad.mit.edu	37	19	51190044	51190044	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51190044C>T	ENST00000293441.1	-	19	2433	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	SHANK1_ENST00000391813.1_Silent_p.V192V|SHANK1_ENST00000391814.1_Silent_p.V813V|SHANK1_ENST00000359082.3_Silent_p.V796V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	805					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCATGCTGGGCACCGGCGCCG	0.711																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2413-2415)gtG>gtA		SH3 and multiple ankyrin repeat domains 1							41.0	42.0	42.0					19																	51190044		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51190044C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2415G>A	19.37:g.51190044C>T						SHANK1_ENST00000391813.1_Silent_p.V192V|SHANK1_ENST00000359082.3_Silent_p.V796V|SHANK1_ENST00000391814.1_Silent_p.V813V	p.V805V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	19	2433	-		all_neural(266;0.057)	805					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.2415G>A	CCDS12799.1																																																																																				0.711	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	17	0	0	0	1	0	7	17				
ATG9B	285973	broad.mit.edu	37	7	150714129	150714129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714129C>T	ENST00000377974.2	-	9	2358	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	ATG9B_ENST00000605938.1_Silent_p.S761S|ATG9B_ENST00000444312.1_Silent_p.S247S|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	761					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCAGGGGCGAGGTGCAGT	0.652																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2281-2283)tcG>tcA		autophagy related 9B							9.0	14.0	12.0					7																	150714129		2005	4130	6135	SO:0001819	synonymous_variant	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150714129C>T	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2283G>A	7.37:g.150714129C>T						ATG9B_ENST00000377974.2_Silent_p.S761S|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.S247S	p.S761S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2358	-	all_neural(206;0.219)		761					A1A5D3|Q6JRW5|Q8N8I8	Silent	SNP	ENST00000377974.2	37	c.2283G>A																																																																																					0.652	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		6	11	0	0	0	1	0	6	11				
BDH1	622	broad.mit.edu	37	3	197249573	197249573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197249573C>T	ENST00000392378.2	-	5	657	c.347G>A	c.(346-348)aGc>aAc	p.S116N	BDH1_ENST00000392379.1_Missense_Mutation_p.S116N|BDH1_ENST00000441275.1_Missense_Mutation_p.S29N|BDH1_ENST00000358186.2_Missense_Mutation_p.S116N	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	116				CS -> FR (in Ref. 1; AAA58352). {ECO:0000305}.	adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CTCTTCGCTGCTGCAGACATT	0.582																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(346-348)aGc>aAc		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						141.0	106.0	118.0					3																	197249573		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197249573C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.347G>A	3.37:g.197249573C>T	ENSP00000376183:p.Ser116Asn					BDH1_ENST00000441275.1_Missense_Mutation_p.S29N|BDH1_ENST00000358186.2_Missense_Mutation_p.S116N|BDH1_ENST00000392378.2_Missense_Mutation_p.S116N	p.S116N	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	6	748	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	116	CS -> FR (in Ref. 1; AAA58352).				D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.347G>A	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	1.923	-0.447833	0.04572	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819	D;D;D;D;D;T;T	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;0.68;0.68	4.27	-2.06	0.07298	NAD(P)-binding domain (1);	0.604278	0.19481	N	0.113206	T	0.78368	0.4272	N	0.02985	-0.445	0.26687	N	0.971428	B	0.10296	0.003	B	0.15052	0.012	T	0.68017	-0.5520	10	0.14252	T	0.57	.	8.9593	0.35838	0.0:0.4245:0.0:0.5755	.	116	Q02338	BDH_HUMAN	N	116;116;116;29;29;97;116	ENSP00000376183:S116N;ENSP00000350914:S116N;ENSP00000376184:S116N;ENSP00000411014:S29N;ENSP00000387648:S29N;ENSP00000408685:S97N;ENSP00000409849:S116N	ENSP00000350914:S116N	S	-	2	0	BDH1	198733970	0.478000	0.25917	0.055000	0.19348	0.927000	0.56198	0.891000	0.28309	-0.200000	0.10300	0.491000	0.48974	AGC		0.582	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		20	34	0	0	0	1	0	20	34				
INPP5F	22876	broad.mit.edu	37	10	121582687	121582687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121582687C>T	ENST00000361976.2	+	18	2303	c.2137C>T	c.(2137-2139)Cgt>Tgt	p.R713C	INPP5F_ENST00000369080.3_Missense_Mutation_p.R103C|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCTGTAATGCGTAATCCTGA	0.408																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2137-2139)Cgt>Tgt		inositol polyphosphate-5-phosphatase F							96.0	89.0	91.0					10																	121582687		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121582687C>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.2137C>T	10.37:g.121582687C>T	ENSP00000354519:p.Arg713Cys					INPP5F_ENST00000369080.3_Missense_Mutation_p.R103C|INPP5F_ENST00000490818.1_3'UTR	p.R713C	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	18	2303	+		Lung NSC(174;0.109)|all_lung(145;0.142)	713					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.2137C>T	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523704	0.85600	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.52526	0.95;0.66	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.926	T	0.58923	-0.7550	10	0.52906	T	0.07	-16.5405	20.8598	0.99761	0.0:1.0:0.0:0.0	.	103;713	Q5W135;Q9Y2H2	.;SAC2_HUMAN	C	713;103	ENSP00000354519:R713C;ENSP00000358076:R103C	ENSP00000354519:R713C	R	+	1	0	INPP5F	121572677	1.000000	0.71417	0.945000	0.38365	0.448000	0.32197	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	CGT		0.408	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		24	39	0	0	0	1	0	24	39				
PPT2	9374	broad.mit.edu	37	6	32130594	32130594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32130594G>A	ENST00000324816.6	+	9	1344	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	PPT2_ENST00000437001.2_Intron|PPT2_ENST00000395523.1_Missense_Mutation_p.R259Q|PPT2_ENST00000361568.2_Missense_Mutation_p.R265Q|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.R259Q|EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000375137.2_Missense_Mutation_p.R259Q|PPT2-EGFL8_ENST00000453656.2_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000445576.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	259					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.R265L(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GTTTATCTGCGGGATTCTTTT	0.557																																						ENST00000324816.6																			2	Substitution - Missense(2)	p.R265L(2)	lung(2)	NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						c.(775-777)cGg>cAg		palmitoyl-protein thioesterase 2							109.0	118.0	115.0					6																	32130594		2203	4300	6503	SO:0001583	missense	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32130594G>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.776G>A	6.37:g.32130594G>A	ENSP00000320528:p.Arg259Gln					PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.R259Q|PPT2_ENST00000361568.2_Missense_Mutation_p.R265Q|PPT2_ENST00000395523.1_Missense_Mutation_p.R259Q|PPT2_ENST00000375143.2_Missense_Mutation_p.R259Q|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000437001.2_Intron	p.R259Q			Q9UMR5	PPT2_HUMAN			9	1344	+			259					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.776G>A	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993212	0.35131	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.81	4.05	0.47172	.	0.370034	0.27816	N	0.017729	T	0.76133	0.3945	N	0.16166	0.38	0.80722	D	1	B;B	0.23058	0.079;0.079	B;B	0.11329	0.006;0.006	T	0.71206	-0.4661	10	0.34782	T	0.22	2.0549	8.5843	0.33649	0.1732:0.0:0.8268:0.0	.	259;265	Q9UMR5;B0S872	PPT2_HUMAN;.	Q	265;259;259;259;259	ENSP00000354608:R265Q;ENSP00000378894:R259Q;ENSP00000320528:R259Q;ENSP00000364279:R259Q;ENSP00000364285:R259Q	ENSP00000320528:R259Q	R	+	2	0	PPT2	32238572	0.211000	0.23529	0.914000	0.36105	0.985000	0.73830	2.207000	0.42788	0.807000	0.34208	0.655000	0.94253	CGG		0.557	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		79	95	0	0	0	1	0	79	95				
FAM171B	165215	broad.mit.edu	37	2	187626631	187626631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187626631C>T	ENST00000304698.5	+	8	1765	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	521						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATGAGGAGGCGTATGGGCGT	0.413																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1561-1563)gCg>gTg		family with sequence similarity 171, member B							91.0	82.0	85.0					2																	187626631		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626631C>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1562C>T	2.37:g.187626631C>T	ENSP00000304108:p.Ala521Val						p.A521V	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	1765	+			521					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1562C>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.914852	0.00503	.	.	ENSG00000144369	ENST00000304698	T	0.33654	1.4	5.64	-1.49	0.08718	.	0.696895	0.14294	N	0.328740	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24870	-1.0148	10	0.07325	T	0.83	-0.0028	1.5264	0.02526	0.1299:0.1475:0.2696:0.4529	.	521;522	Q6P995;A8K122	F171B_HUMAN;.	V	521	ENSP00000304108:A521V	ENSP00000304108:A521V	A	+	2	0	FAM171B	187334876	0.056000	0.20664	0.012000	0.15200	0.138000	0.21146	0.121000	0.15667	-0.165000	0.10908	-0.302000	0.09304	GCG		0.413	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		7	19	0	0	0	1	0	7	19				
SH3BP1	23616	broad.mit.edu	37	22	38046569	38046569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38046569G>T	ENST00000357436.4	+	16	1748	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	SH3BP1_ENST00000599616.1_Missense_Mutation_p.G415C|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_3'UTR	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	479					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CAACGTGTCAGGCCTCTTCTC	0.632																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1243-1245)Ggc>Tgc		SH3-domain binding protein 1							69.0	61.0	64.0					22																	38046569		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38046569G>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1435G>T	22.37:g.38046569G>T	ENSP00000350018:p.Gly479Cys					SH3BP1_ENST00000357436.4_Missense_Mutation_p.G479C|SH3BP1_ENST00000442465.2_3'UTR|Z83844.1_ENST00000456099.1_RNA	p.G415C			Q9Y3L3	3BP1_HUMAN			14	1243	+	Melanoma(58;0.0574)		479			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.1243G>T	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311691	0.81358	.	.	ENSG00000100092	ENST00000357436;ENST00000397014	T	0.19105	2.17	4.97	3.96	0.45880	.	0.103291	0.42964	D	0.000633	T	0.39091	0.1065	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.995;0.998	P;P;P;P	0.60473	0.789;0.875;0.701;0.711	T	0.25916	-1.0118	10	0.59425	D	0.04	.	10.7138	0.46000	0.0893:0.0:0.9107:0.0	.	393;415;479;393	E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;3BP1_HUMAN;.	C	479;393	ENSP00000350018:G479C	ENSP00000350018:G479C	G	+	1	0	SH3BP1	36376515	1.000000	0.71417	0.966000	0.40874	0.988000	0.76386	3.298000	0.51818	1.458000	0.47871	0.655000	0.94253	GGC		0.632	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		19	29	1	0	3.62473e-10	1	4.44982e-10	19	29				
RYK	6259	broad.mit.edu	37	3	133896788	133896788	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133896788T>C	ENST00000427044.2	-	12	1345	c.735A>G	c.(733-735)ccA>ccG	p.P245P	RYK_ENST00000296084.4_Silent_p.P435P			P34925	RYK_HUMAN	receptor-like tyrosine kinase	431					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TTCTCACCTGTGGATTATTGG	0.328																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(733-735)ccA>ccG		receptor-like tyrosine kinase							95.0	88.0	90.0					3																	133896788		1809	4074	5883	SO:0001819	synonymous_variant	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133896788T>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.735A>G	3.37:g.133896788T>C						RYK_ENST00000296084.4_Silent_p.P435P	p.P245P			P34925	RYK_HUMAN			12	1345	-			431					Q04696	Silent	SNP	ENST00000427044.2	37	c.735A>G		.	.	.	.	.	.	.	.	.	.	T	9.171	1.021268	0.19433	.	.	ENSG00000163785	ENST00000460933	.	.	.	5.68	-2.94	0.05581	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32955	-0.9887	4	.	.	.	-3.4463	1.1347	0.01752	0.288:0.164:0.1213:0.4268	.	.	.	.	R	414	.	.	H	-	2	0	RYK	135379478	0.001000	0.12720	0.990000	0.47175	0.999000	0.98932	-1.601000	0.02081	-0.489000	0.06716	0.528000	0.53228	CAC		0.328	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		4	44	0	0	0	1	0	4	44				
NLRC3	197358	broad.mit.edu	37	16	3592765	3592765	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3592765T>C	ENST00000301749.7	-	0	3355				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGGCATTTCCTCTTAAG	0.557																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							42.0	42.0	42.0					16																	3592765		1921	4135	6056			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3592765T>C	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3592765T>C						NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	3355	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	T	24.3	4.511342	0.85389	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.67523	-0.27;-0.27;-0.27	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	H	0.95574	3.69	0.24712	N	0.993195	D	0.55172	0.97	D	0.66602	0.945	T	0.82680	-0.0337	10	0.87932	D	0	.	12.95	0.58394	0.0:0.0:0.0:1.0	.	1030	C9JLH9	.	D	984;955;1030	ENSP00000301749:N984D;ENSP00000352039:N955D;ENSP00000414415:N1030D	ENSP00000301749:N984D	N	-	1	0	NLRC3	3532766	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	3.420000	0.52735	2.308000	0.77769	0.533000	0.62120	AAT		0.557	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		3	9	0	0	0	1	0	3	9				
LINC00471	151477	broad.mit.edu	37	2	232378330	232378330	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232378330C>A	ENST00000313064.2	-	0	271					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		TTCAGTTCACCTTGACCTTTT	0.413																																						ENST00000313064.2																			0																				189.0	144.0	158.0					2																	232378330		692	1591	2283			0							g.chr2:232378330C>A	BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232378330C>A								NR_024079.1						0	271	-									RNA	SNP	ENST00000313064.2	37																																																																																						0.413	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513		5	50	1	0	0.014758	1	0.0152625	5	50				
STOML2	30968	broad.mit.edu	37	9	35100655	35100655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35100655C>A	ENST00000356493.5	-	9	935	c.873G>T	c.(871-873)aaG>aaT	p.K291N	STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000452248.2_Missense_Mutation_p.K246N	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	291					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTTGGAGTCCTTGGCCAGTT	0.547																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(871-873)aaG>aaT		stomatin (EPB72)-like 2							214.0	189.0	198.0					9																	35100655		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35100655C>A	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.873G>T	9.37:g.35100655C>A	ENSP00000348886:p.Lys291Asn					STOML2_ENST00000452248.2_Missense_Mutation_p.K246N	p.K291N	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	935	-			291					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.873G>T	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686829	0.68157	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98362	-3.69;-4.89	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	M	0.90870	3.155	0.58432	D	0.999999	P;D	0.89917	0.94;1.0	P;D	0.76575	0.77;0.988	D	0.99305	1.0902	9	.	.	.	-6.1286	13.1463	0.59463	0.0:0.9169:0.0:0.0831	.	246;291	B4E1K7;Q9UJZ1	.;STML2_HUMAN	N	291;246	ENSP00000348886:K291N;ENSP00000395743:K246N	.	K	-	3	2	STOML2	35090655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.309000	0.33539	2.590000	0.87494	0.563000	0.77884	AAG		0.547	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		43	95	1	0	7.05121e-23	1	9.31834e-23	43	95				
DUOX1	53905	broad.mit.edu	37	15	45427309	45427309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45427309C>T	ENST00000321429.4	+	6	722	c.315C>T	c.(313-315)caC>caT	p.H105H	DUOX1_ENST00000389037.3_Silent_p.H105H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	105	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCTATCACGTGCTTTCAG	0.617																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(313-315)caC>caT		dual oxidase 1							50.0	50.0	50.0					15																	45427309		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45427309C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.315C>T	15.37:g.45427309C>T						DUOX1_ENST00000389037.3_Silent_p.H105H	p.H105H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	722	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	105			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.315C>T	CCDS32221.1																																																																																				0.617	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		5	39	0	0	0	1	0	5	39				
MYO10	4651	broad.mit.edu	37	5	16689991	16689991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16689991C>T	ENST00000513610.1	-	28	4292	c.3838G>A	c.(3838-3840)Gac>Aac	p.D1280N	MYO10_ENST00000515803.1_Missense_Mutation_p.D619N|MYO10_ENST00000427430.2_Missense_Mutation_p.D637N|MYO10_ENST00000274203.9_Missense_Mutation_p.D637N|MYO10_ENST00000505695.1_Missense_Mutation_p.D619N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1280	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATAATGATGTCGATCCCATTC	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3838-3840)Gac>Aac		myosin X							187.0	181.0	183.0					5																	16689991		2073	4213	6286	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689991C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3838G>A	5.37:g.16689991C>T	ENSP00000421280:p.Asp1280Asn					MYO10_ENST00000505695.1_Missense_Mutation_p.D619N|MYO10_ENST00000515803.1_Missense_Mutation_p.D619N|MYO10_ENST00000274203.9_Missense_Mutation_p.D637N|MYO10_ENST00000427430.2_Missense_Mutation_p.D637N	p.D1280N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			28	4292	-			1280			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3838G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699905	0.48307	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.13329	0.0323	L	0.32530	0.975	0.58432	D	0.999996	B;P;D	0.53745	0.089;0.954;0.962	B;B;B	0.41271	0.027;0.352;0.322	T	0.05305	-1.0893	9	0.27785	T	0.31	.	19.036	0.92978	0.0:1.0:0.0:0.0	.	159;921;1280	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1280;619;637;619;637	ENSP00000421280:D1280N;ENSP00000425051:D619N;ENSP00000274203:D637N;ENSP00000421170:D619N;ENSP00000391106:D637N	ENSP00000274203:D637N	D	-	1	0	MYO10	16742991	0.947000	0.32204	0.609000	0.28983	0.438000	0.31896	2.143000	0.42187	2.603000	0.88011	0.655000	0.94253	GAC		0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		26	32	0	0	0	1	0	26	32				
STOX1	219736	broad.mit.edu	37	10	70652425	70652425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70652425G>A	ENST00000298596.6	+	4	2986	c.2903G>A	c.(2902-2904)gGc>gAc	p.G968D	STOX1_ENST00000399169.4_Missense_Mutation_p.G968D|STOX1_ENST00000399162.2_3'UTR|STOX1_ENST00000421961.2_Missense_Mutation_p.G858D|STOX1_ENST00000399165.4_3'UTR	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	968						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AATGTCGAAGGCACAAAGAGC	0.333																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2902-2904)gGc>gAc		storkhead box 1							115.0	120.0	119.0					10																	70652425		1990	4190	6180	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70652425G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2903G>A	10.37:g.70652425G>A	ENSP00000298596:p.Gly968Asp					STOX1_ENST00000399165.4_3'UTR|STOX1_ENST00000399169.4_Missense_Mutation_p.G968D|STOX1_ENST00000399162.2_3'UTR|STOX1_ENST00000421961.2_Missense_Mutation_p.G858D	p.G968D	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			4	2986	+			968					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2903G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868453	0.51588	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.75589	-0.95;-0.95;-0.63	6.07	4.21	0.49690	.	0.335152	0.33515	N	0.004827	T	0.68495	0.3007	M	0.67953	2.075	0.29685	N	0.841403	P	0.35050	0.482	B	0.30029	0.11	T	0.67469	-0.5663	10	0.54805	T	0.06	.	9.8487	0.41043	0.0696:0.0:0.7913:0.1391	.	968	Q6ZVD7	STOX1_HUMAN	D	968;968;858	ENSP00000382121:G968D;ENSP00000298596:G968D;ENSP00000394509:G858D	ENSP00000298596:G968D	G	+	2	0	STOX1	70322431	1.000000	0.71417	0.997000	0.53966	0.466000	0.32739	3.278000	0.51662	0.874000	0.35823	0.655000	0.94253	GGC		0.333	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		30	47	0	0	0	1	0	30	47				
ZNF528	84436	broad.mit.edu	37	19	52909844	52909844	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909844G>T	ENST00000360465.3	+	6	645	c.219G>T	c.(217-219)gaG>gaT	p.E73D	ZNF528_ENST00000594530.1_Missense_Mutation_p.E73D|ZNF528_ENST00000598192.1_Missense_Mutation_p.E73D|ZNF528_ENST00000391788.2_Missense_Mutation_p.E63D	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGAGTGAAGAGAAAATAGCAA	0.443																																						ENST00000391788.2																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(187-189)gaG>gaT		zinc finger protein 528							103.0	100.0	101.0					19																	52909844		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909844G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.219G>T	19.37:g.52909844G>T	ENSP00000353652:p.Glu73Asp					ZNF528_ENST00000598192.1_Missense_Mutation_p.E73D|ZNF528_ENST00000360465.3_Missense_Mutation_p.E73D|ZNF528_ENST00000594530.1_Missense_Mutation_p.E73D	p.E63D			Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	6	712	+			73			KRAB.		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.189G>T	CCDS33091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.594667|1.594667	0.28445|0.28445	.|.	.|.	ENSG00000167555|ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465|ENST00000448954	T;T;T|.	0.05199|.	5.45;5.59;3.48|.	1.47|1.47	-1.01|-1.01	0.10169|0.10169	Krueppel-associated box (1);|.	.|.	.|.	.|.	.|.	T|.	0.28101|.	0.0693|.	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	1|1	P|.	0.36125|.	0.538|.	B|.	0.23275|.	0.045|.	T|.	0.29243|.	-1.0018|.	9|.	0.32370|0.13108	T|T	0.25|0.6	.|.	2.6977|2.6977	0.05139|0.05139	0.2154:0.3099:0.4746:0.0|0.2154:0.3099:0.4746:0.0	.|.	73|.	Q3MIS6|.	ZN528_HUMAN|.	D|X	63;73;73|43	ENSP00000375665:E63D;ENSP00000375664:E73D;ENSP00000353652:E73D|.	ENSP00000353652:E73D|ENSP00000404087:E43X	E|E	+|+	3|1	2|0	ZNF528|ZNF528	57601656|57601656	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.414000|0.414000	0.21164|0.21164	-0.203000|-0.203000	0.10251|0.10251	-0.499000|-0.499000	0.04595|0.04595	GAG|GAA		0.443	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		15	51	1	0	4.14922e-12	1	5.2041e-12	15	51				
MAGI3	260425	broad.mit.edu	37	1	114196468	114196468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114196468C>T	ENST00000307546.9	+	15	2532	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	MAGI3_ENST00000369611.4_Silent_p.D819D|MAGI3_ENST00000369617.4_Silent_p.D844D|MAGI3_ENST00000369615.1_Silent_p.D819D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	844	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCCGAGGACGACAGCTCTC	0.478																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2455-2457)gaC>gaT		membrane associated guanylate kinase, WW and PDZ domain containing 3							103.0	115.0	111.0					1																	114196468		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114196468C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2457C>T	1.37:g.114196468C>T						MAGI3_ENST00000369617.4_Silent_p.D844D|MAGI3_ENST00000307546.9_Silent_p.D819D|MAGI3_ENST00000369611.4_Silent_p.D819D	p.D819D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2519	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	844			Interaction with BAI1.|PDZ 4.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2457C>T	CCDS44196.1																																																																																				0.478	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		17	169	0	0	0	1	0	17	169				
RYR3	6263	broad.mit.edu	37	15	33955767	33955767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33955767C>T	ENST00000389232.4	+	36	5518	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	RYR3_ENST00000415757.3_Silent_p.D1816D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1816	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTCTGCGACTGTGAGCTGC	0.468																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5446-5448)gaC>gaT		ryanodine receptor 3							58.0	57.0	57.0					15																	33955767		2029	4203	6232	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955767C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5448C>T	15.37:g.33955767C>T						RYR3_ENST00000415757.3_Silent_p.D1816D	p.D1816D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	36	5518	+		all_lung(180;7.18e-09)	1816			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5448C>T	CCDS45210.1																																																																																				0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	20	0	0	0	1	0	6	20				
CENPJ	55835	broad.mit.edu	37	13	25480611	25480611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480611C>A	ENST00000381884.4	-	7	1750	c.1565G>T	c.(1564-1566)gGt>gTt	p.G522V	CENPJ_ENST00000545981.1_Missense_Mutation_p.G522V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	522					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGTCTTTACCTTGTGTCTT	0.443																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1564-1566)gGt>gTt		centromere protein J							72.0	77.0	76.0					13																	25480611		2203	4298	6501	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480611C>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1565G>T	13.37:g.25480611C>A	ENSP00000371308:p.Gly522Val					CENPJ_ENST00000545981.1_Missense_Mutation_p.G522V	p.G522V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1750	-		Lung SC(185;0.0225)|Breast(139;0.0602)	522					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1565G>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	0.673	-0.801043	0.02841	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.36157	1.27;1.85	5.93	1.31	0.21738	.	0.728585	0.13400	N	0.390676	T	0.32556	0.0833	M	0.65975	2.015	0.19300	N	0.999973	B	0.16166	0.016	B	0.18561	0.022	T	0.27905	-1.0060	10	0.30854	T	0.27	.	6.4736	0.22022	0.1167:0.6233:0.0:0.26	.	522	Q9HC77	CENPJ_HUMAN	V	522	ENSP00000371308:G522V;ENSP00000441090:G522V	ENSP00000371308:G522V	G	-	2	0	CENPJ	24378611	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-0.591000	0.05753	-0.070000	0.12908	-0.137000	0.14449	GGT		0.443	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		37	50	1	0	3.33393e-15	1	4.27331e-15	37	50				
LRFN5	145581	broad.mit.edu	37	14	42356641	42356641	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356641C>T	ENST00000298119.4	+	3	2002	c.813C>T	c.(811-813)ggC>ggT	p.G271G	LRFN5_ENST00000554120.1_Silent_p.G271G|LRFN5_ENST00000554171.1_Silent_p.G271G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	271	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTTAACTGGCCGCTACTTTT	0.468										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(811-813)ggC>ggT		leucine rich repeat and fibronectin type III domain containing 5							147.0	147.0	147.0					14																	42356641		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356641C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.813C>T	14.37:g.42356641C>T		HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Silent_p.G271G|LRFN5_ENST00000554120.1_Silent_p.G271G	p.G271G			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3245	+			271			LRRCT.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.813C>T	CCDS9678.1																																																																																				0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		48	72	0	0	0	1	0	48	72				
ZNF708	7562	broad.mit.edu	37	19	21476213	21476213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21476213G>T	ENST00000356929.3	-	4	1752	c.1555C>A	c.(1555-1557)Ctt>Att	p.L519I		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTTTCATAAGGGTTGAGGAC	0.368																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1555-1557)Ctt>Att		zinc finger protein 708							52.0	57.0	56.0					19																	21476213		2198	4296	6494	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476213G>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1555C>A	19.37:g.21476213G>T	ENSP00000349401:p.Leu519Ile						p.L519I	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1752	-			519					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1555C>A	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	4.417	0.077159	0.08485	.	.	ENSG00000182141	ENST00000356929	T	0.53857	0.6	1.05	-0.129	0.13502	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70193	0.3196	M	0.90019	3.08	0.09310	N	1	D	0.60160	0.987	D	0.68039	0.955	T	0.56595	-0.7953	9	0.72032	D	0.01	.	4.6182	0.12437	0.4164:0.0:0.5836:0.0	.	519	P17019	ZN708_HUMAN	I	519	ENSP00000349401:L519I	ENSP00000349401:L519I	L	-	1	0	ZNF708	21268053	0.016000	0.18221	0.010000	0.14722	0.009000	0.06853	0.026000	0.13599	0.482000	0.27582	0.485000	0.47835	CTT		0.368	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		7	50	1	0	8.12818e-05	1	8.99451e-05	7	50				
CCDC152	100129792	broad.mit.edu	37	5	42801096	42801096	+	3'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801096G>A	ENST00000361970.5	+	0	2065				SEPP1_ENST00000511224.1_Missense_Mutation_p.T291I|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.T291I|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000514985.1_Missense_Mutation_p.T291I	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						CTCTGAATCTGTGGGCAATTT	0.408																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(871-873)aCa>aTa		selenoprotein P, plasma, 1							99.0	90.0	93.0					5																	42801096		1862	4122	5984	SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42801096G>A		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1213G>A	5.37:g.42801096G>A						SEPP1_ENST00000506577.1_Missense_Mutation_p.T291I|SEPP1_ENST00000511224.1_Missense_Mutation_p.T291I|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR	p.T291I	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	1128	-			291					B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	ENST00000361970.5	37	c.872C>T	CCDS47203.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762597	0.49574	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.78	0.805	0.18703	.	0.604609	0.13694	N	0.369321	T	0.13114	0.0318	N	0.08118	0	0.09310	N	0.999997	.	.	.	.	.	.	T	0.22661	-1.0210	8	0.72032	D	0.01	.	5.8683	0.18789	0.0:0.2571:0.2302:0.5126	.	.	.	.	I	291	ENSP00000420939:T291I;ENSP00000427671:T291I;ENSP00000425915:T291I;ENSP00000421626:T291I	ENSP00000425915:T291I	T	-	2	0	SEPP1	42836853	0.000000	0.05858	0.003000	0.11579	0.630000	0.37929	0.326000	0.19646	-0.322000	0.08615	-0.335000	0.08231	ACA		0.408	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		32	57	0	0	0	1	0	32	57				
DST	667	broad.mit.edu	37	6	56468010	56468010	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468010G>T	ENST00000361203.3	-	38	10524	c.10517C>A	c.(10516-10518)tCt>tAt	p.S3506Y	DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S3506Y|DST_ENST00000446842.2_Missense_Mutation_p.S3180Y|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3684Y|DST_ENST00000312431.6_Missense_Mutation_p.S3506Y			Q03001	DYST_HUMAN	dystonin	3506					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACCATTTCAGAGTCGATCGC	0.363																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(11050-11052)tCt>tAt		dystonin							17.0	17.0	17.0					6																	56468010		874	1991	2865	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56468010G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10517C>A	6.37:g.56468010G>T	ENSP00000354508:p.Ser3506Tyr					DST_ENST00000312431.6_Missense_Mutation_p.S3506Y|DST_ENST00000370769.4_Missense_Mutation_p.S3506Y|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3506Y|DST_ENST00000446842.2_Missense_Mutation_p.S3180Y	p.S3684Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		41	11050	-	Lung NSC(77;0.103)		3506					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.11051C>A		.	.	.	.	.	.	.	.	.	.	G	12.01	1.808377	0.31961	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203	T;T;T;D;T	0.83075	-0.16;-0.17;0.78;-1.68;-0.2	5.82	4.02	0.46733	.	0.688989	0.12738	N	0.443273	T	0.79879	0.4522	.	.	.	0.28771	N	0.900346	.	.	.	.	.	.	T	0.77172	-0.2685	6	0.62326	D	0.03	.	10.6201	0.45474	0.073:0.2526:0.6744:0.0	.	.	.	.	Y	3684;3506;3180;3506;3506	ENSP00000359790:S3684Y;ENSP00000359805:S3506Y;ENSP00000393645:S3180Y;ENSP00000307959:S3506Y;ENSP00000354508:S3506Y	ENSP00000307959:S3506Y	S	-	2	0	DST	56575969	1.000000	0.71417	0.987000	0.45799	0.588000	0.36517	2.373000	0.44266	0.770000	0.33336	0.591000	0.81541	TCT		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	15	1	0	0.014758	1	0.0152625	5	15				
NDUFAF1	51103	broad.mit.edu	37	15	41688736	41688736	+	Silent	SNP	G	G	A	rs373384879		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41688736G>A	ENST00000260361.4	-	2	903	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	174					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TAGACTCCCCGTCCTGAGGCG	0.488																																						ENST00000260361.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(520-522)gaC>gaT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 1		G		0,4406		0,0,2203	67.0	67.0	67.0		522	-0.7	1.0	15		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NDUFAF1	NM_016013.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		174/328	41688736	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41688736G>A	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.522C>T	15.37:g.41688736G>A							p.D174D	NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	2	903	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	174					Q9BVZ5	Silent	SNP	ENST00000260361.4	37	c.522C>T	CCDS10075.1																																																																																				0.488	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		19	36	0	0	0	1	0	19	36				
BPIFB1	92747	broad.mit.edu	37	20	31873891	31873891	+	Silent	SNP	G	G	A	rs34388907	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31873891G>A	ENST00000253354.1	+	2	173	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	4					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TGGCCGGCCCGTGGACCTTCA	0.617													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0					ENST00000253354.1																			0											c.(10-12)ccG>ccA		BPI fold containing family B, member 1		G		26,4380	33.5+/-64.1	0,26,2177	115.0	97.0	103.0		12	-5.2	0.0	20	dbSNP_126	103	1,8599		0,1,4299	no	coding-synonymous	BPIFB1	NM_033197.2		0,27,6476	AA,AG,GG		0.0116,0.5901,0.2076		4/485	31873891	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	92747					extracellular space	lipid binding	g.chr20:31873891G>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.12G>A	20.37:g.31873891G>A							p.P4P	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			2	173	+			4					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	c.12G>A	CCDS13218.1																																																																																				0.617	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		21	33	0	0	0	1	0	21	33				
TCP11	6954	broad.mit.edu	37	6	35089995	35089995	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35089995G>T	ENST00000512012.1	-	4	633	c.477C>A	c.(475-477)ctC>ctA	p.L159L	TCP11_ENST00000373974.4_Silent_p.L126L|TCP11_ENST00000311875.5_Silent_p.L172L|TCP11_ENST00000418521.2_Silent_p.L96L|TCP11_ENST00000244645.3_Silent_p.L97L|TCP11_ENST00000444780.2_Silent_p.L167L|TCP11_ENST00000412155.2_Silent_p.L121L|TCP11_ENST00000373979.2_Silent_p.L97L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	159					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CGTACTTAGAGAGATAGAGGA	0.483																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(514-516)ctC>ctA		t-complex 11, testis-specific							145.0	131.0	136.0					6																	35089995		2203	4300	6503	SO:0001819	synonymous_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35089995G>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.477C>A	6.37:g.35089995G>T						TCP11_ENST00000444780.2_Silent_p.L167L|TCP11_ENST00000412155.2_Silent_p.L121L|TCP11_ENST00000418521.2_Silent_p.L96L|TCP11_ENST00000373974.4_Silent_p.L126L|TCP11_ENST00000244645.3_Silent_p.L97L|TCP11_ENST00000512012.1_Silent_p.L159L|TCP11_ENST00000373979.2_Silent_p.L97L	p.L172L			Q8WWU5	TCP11_HUMAN			5	933	-			159					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37	c.516C>A																																																																																					0.483	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		5	99	1	0	0.000602214	1	0.000649039	5	99				
PCBP2	5094	broad.mit.edu	37	12	53865487	53865487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865487G>A	ENST00000439930.3	+	13	979	c.957G>A	c.(955-957)gcG>gcA	p.A319A	PCBP2_ENST00000455667.3_Silent_p.A272A|PCBP2_ENST00000359462.5_Silent_p.A320A|PCBP2_ENST00000447282.1_Silent_p.A289A|PCBP2_ENST00000546463.1_Silent_p.A316A|PCBP2_ENST00000603815.1_Silent_p.A319A|PCBP2_ENST00000548933.1_Silent_p.A289A|PCBP2_ENST00000552296.2_Silent_p.A315A|PCBP2_ENST00000359282.5_Silent_p.A285A|PCBP2_ENST00000552819.1_Silent_p.A276A|PCBP2_ENST00000549863.1_Silent_p.A275A|PCBP2_ENST00000437231.1_Silent_p.A272A			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	319	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGTCTGGGGCGCAGATCAAAA	0.473																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(955-957)gcG>gcA		poly(rC) binding protein 2							74.0	61.0	65.0					12																	53865487		2203	4300	6503	SO:0001819	synonymous_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53865487G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.957G>A	12.37:g.53865487G>A						PCBP2_ENST00000455667.3_Silent_p.A272A|PCBP2_ENST00000548933.1_Silent_p.A289A|PCBP2_ENST00000359282.5_Silent_p.A285A|PCBP2_ENST00000437231.1_Silent_p.A272A|PCBP2_ENST00000359462.5_Silent_p.A320A|PCBP2_ENST00000552296.2_Silent_p.A315A|PCBP2_ENST00000552819.1_Silent_p.A276A|PCBP2_ENST00000439930.3_Silent_p.A319A|PCBP2_ENST00000447282.1_Silent_p.A289A|PCBP2_ENST00000549863.1_Silent_p.A275A|PCBP2_ENST00000546463.1_Silent_p.A316A	p.A319A	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			14	1307	+			319			KH 3.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	ENST00000439930.3	37	c.957G>A	CCDS44901.1																																																																																				0.473	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		19	18	0	0	0	1	0	19	18				
CCDC113	29070	broad.mit.edu	37	16	58313629	58313629	+	Missense_Mutation	SNP	G	G	A	rs146122026		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58313629G>A	ENST00000219299.4	+	9	1161	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.R307Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	361						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R361Q(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GCTTGGAATCGAATGAAAATA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18966	0.0		0.001	False		,,,				2504	0.0					ENST00000219299.4																			1	Substitution - Missense(1)	p.R361Q(1)	large_intestine(1)	large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(1081-1083)cGa>cAa		coiled-coil domain containing 113		G	GLN/ARG,GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	71.0	69.0	70.0		920,1082	-0.7	0.9	16	dbSNP_134	70	0,8600		0,0,4300	yes	missense,missense	CCDC113	NM_001142302.1,NM_014157.3	43,43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	307/324,361/378	58313629	1,12995	2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58313629G>A	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.1082G>A	16.37:g.58313629G>A	ENSP00000219299:p.Arg361Gln					CCDC113_ENST00000443128.2_Missense_Mutation_p.R307Q	p.R361Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			9	1161	+			361					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.1082G>A	CCDS10795.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.942	0.543584	0.13250	2.27E-4	0.0	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.29917	1.55;1.63	6.03	-0.697	0.11284	.	0.472014	0.24050	N	0.042015	T	0.09818	0.0241	N	0.08118	0	0.20074	N	0.999933	B;B	0.20887	0.049;0.014	B;B	0.11329	0.006;0.002	T	0.34675	-0.9819	10	0.02654	T	1	-7.7531	5.7642	0.18217	0.5139:0.1387:0.3474:0.0	.	307;361	B4DR20;Q9H0I3	.;CC113_HUMAN	Q	307;361	ENSP00000402588:R307Q;ENSP00000219299:R361Q	ENSP00000219299:R361Q	R	+	2	0	CCDC113	56871130	0.754000	0.28360	0.868000	0.34077	0.072000	0.16883	0.674000	0.25218	-0.111000	0.12001	-0.302000	0.09304	CGA		0.413	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		15	19	0	0	0	1	0	15	19				
DSP	1832	broad.mit.edu	37	6	7581603	7581603	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581603T>C	ENST00000379802.3	+	23	5521	c.5180T>C	c.(5179-5181)cTg>cCg	p.L1727P	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1727	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGCGGAACCTGAGGCTGGAG	0.473																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5179-5181)cTg>cCg		desmoplakin							128.0	132.0	131.0					6																	7581603		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581603T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5180T>C	6.37:g.7581603T>C	ENSP00000369129:p.Leu1727Pro					DSP_ENST00000418664.2_Intron	p.L1727P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5521	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1727			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5180T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270944	0.59540	.	.	ENSG00000096696	ENST00000379802	T	0.71934	-0.61	5.84	5.84	0.93424	.	0.136284	0.33309	N	0.005054	T	0.61324	0.2338	N	0.22421	0.69	0.80722	D	1	D	0.56521	0.976	P	0.53450	0.726	T	0.67480	-0.5660	10	0.52906	T	0.07	.	16.2826	0.82703	0.0:0.0:0.0:1.0	.	1727	P15924	DESP_HUMAN	P	1727	ENSP00000369129:L1727P	ENSP00000369129:L1727P	L	+	2	0	DSP	7526602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.045000	0.64220	2.253000	0.74438	0.454000	0.30748	CTG		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		53	58	0	0	0	1	0	53	58				
MFSD6L	162387	broad.mit.edu	37	17	8702265	8702265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702265G>A	ENST00000329805.4	-	1	402	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	58						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGAAGGCAGCGATTAGGTGCT	0.652																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(172-174)atC>atT		major facilitator superfamily domain containing 6-like							51.0	58.0	56.0					17																	8702265		2203	4300	6503	SO:0001819	synonymous_variant	162387					integral to membrane		g.chr17:8702265G>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.174C>T	17.37:g.8702265G>A							p.I58I	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	402	-			58					Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	c.174C>T	CCDS11146.1																																																																																				0.652	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		32	37	0	0	0	1	0	32	37				
PLEKHG7	440107	broad.mit.edu	37	12	93157910	93157910	+	Missense_Mutation	SNP	G	G	A	rs375510513		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93157910G>A	ENST00000344636.3	+	10	1058	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	292	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D292N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TACAGTACTCGATCAGCCTAT	0.413																																						ENST00000344636.3																			1	Substitution - Missense(1)	p.D292N(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.(874-876)Gat>Aat		pleckstrin homology domain containing, family G (with RhoGef domain) member 7		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	222.0	213.0	216.0		874	4.9	0.8	12		216	0,8600		0,0,4300	no	missense	PLEKHG7	NM_001004330.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	292/380	93157910	1,13005	2203	4300	6503	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93157910G>A	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.874G>A	12.37:g.93157910G>A	ENSP00000344961:p.Asp292Asn						p.D292N	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN			10	1058	+			292			PH.		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.874G>A	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657141	0.29425	2.27E-4	0.0	ENSG00000187510	ENST00000344636	T	0.63255	-0.03	5.82	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.138800	0.64402	D	0.000005	T	0.60919	0.2306	M	0.63428	1.95	0.44771	D	0.997777	D	0.60160	0.987	B	0.43155	0.41	T	0.66081	-0.6012	10	0.56958	D	0.05	-6.5921	13.2984	0.60311	0.0732:0.0:0.9268:0.0	.	292	Q6ZR37	PKHG7_HUMAN	N	292	ENSP00000344961:D292N	ENSP00000344961:D292N	D	+	1	0	PLEKHG7	91682041	1.000000	0.71417	0.812000	0.32479	0.130000	0.20726	5.113000	0.64640	1.466000	0.48025	0.650000	0.86243	GAT		0.413	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		60	93	0	0	0	1	0	60	93				
CHD5	26038	broad.mit.edu	37	1	6173015	6173015	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6173015C>A	ENST00000262450.3	-	34	5055	c.4956G>T	c.(4954-4956)gaG>gaT	p.E1652D	CHD5_ENST00000378021.1_Missense_Mutation_p.E509D	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCAAGCTCAGCTCCAGCTTGT	0.577																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4954-4956)gaG>gaT		chromodomain helicase DNA binding protein 5							131.0	114.0	120.0					1																	6173015		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6173015C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4956G>T	1.37:g.6173015C>A	ENSP00000262450:p.Glu1652Asp					CHD5_ENST00000378021.1_Missense_Mutation_p.E509D	p.E1652D	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	34	5055	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1652					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4956G>T	CCDS57.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.50|14.50	2.553681|2.553681	0.45487|0.45487	.|.	.|.	ENSG00000116254|ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999|ENST00000536802	D;T|.	0.91180|.	-2.8;2.17|.	4.49|4.49	-1.0|-1.0	0.10196|0.10196	.|.	0.491983|.	0.18636|.	N|.	0.135458|.	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.17082|0.17082	0.46|0.46	0.30322|0.30322	N|N	0.787534|0.787534	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.30446|0.30446	-0.9978|-0.9978	10|6	0.30078|0.87932	T|D	0.28|0	-21.565|-21.565	1.3725|1.3725	0.02213|0.02213	0.1504:0.4459:0.1462:0.2575|0.1504:0.4459:0.1462:0.2575	.|.	1652;509|.	Q8TDI0;Q5TG85|.	CHD5_HUMAN;.|.	D|I	1652;509;509|1095	ENSP00000262450:E1652D;ENSP00000367260:E509D|.	ENSP00000262450:E1652D|ENSP00000433676:S1225I	E|S	-|-	3|2	2|0	CHD5|CHD5	6095602|6095602	0.624000|0.624000	0.27102|0.27102	0.690000|0.690000	0.30148|0.30148	0.975000|0.975000	0.68041|0.68041	0.214000|0.214000	0.17541|0.17541	-0.270000|-0.270000	0.09285|0.09285	-0.140000|-0.140000	0.14226|0.14226	GAG|AGC		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		29	46	1	0	2.85442e-18	1	3.71821e-18	29	46				
AGPAT4	56895	broad.mit.edu	37	6	161587376	161587376	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161587376C>T	ENST00000320285.4	-	3	464	c.252G>A	c.(250-252)aaG>aaA	p.K84K	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Silent_p.K84K|AGPAT4_ENST00000366905.3_Silent_p.K84K|AGPAT4_ENST00000366906.5_Silent_p.K22K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	84					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCTTCCCATACTTGAGGTAGG	0.532																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(250-252)aaG>aaA		1-acylglycerol-3-phosphate O-acyltransferase 4							92.0	79.0	84.0					6																	161587376		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161587376C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.252G>A	6.37:g.161587376C>T						AGPAT4_ENST00000366905.3_Silent_p.K84K|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Silent_p.K22K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Silent_p.K84K	p.K84K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	3	464	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	84					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.252G>A	CCDS5280.1																																																																																				0.532	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		4	49	0	0	0	1	0	4	49				
ZNF462	58499	broad.mit.edu	37	9	109690956	109690956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690956C>T	ENST00000277225.5	+	3	5052	c.4763C>T	c.(4762-4764)aCt>aTt	p.T1588I	ZNF462_ENST00000457913.1_Missense_Mutation_p.T1588I|ZNF462_ENST00000441147.2_Missense_Mutation_p.T433I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACACGGCACTTTGGAGAAA	0.527																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(4762-4764)aCt>aTt		zinc finger protein 462							80.0	74.0	76.0					9																	109690956		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690956C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4763C>T	9.37:g.109690956C>T	ENSP00000277225:p.Thr1588Ile					ZNF462_ENST00000441147.2_Missense_Mutation_p.T433I|ZNF462_ENST00000457913.1_Missense_Mutation_p.T1588I	p.T1588I			Q96JM2	ZN462_HUMAN			3	5052	+			1588					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.4763C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536098	0.64972	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.11169	2.8;2.91;3.6;3.54	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.00692	-1.1607	10	0.33141	T	0.24	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1588;1588	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	I	1588;1588;471;433	ENSP00000277225:T1588I;ENSP00000414570:T1588I;ENSP00000363818:T471I;ENSP00000397306:T433I	ENSP00000277225:T1588I	T	+	2	0	ZNF462	108730777	1.000000	0.71417	0.968000	0.41197	0.948000	0.59901	7.456000	0.80751	2.804000	0.96469	0.655000	0.94253	ACT		0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		20	39	0	0	0	1	0	20	39				
MTHFD1	4522	broad.mit.edu	37	14	64916229	64916229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64916229C>T	ENST00000545908.1	+	24	2743	c.2514C>T	c.(2512-2514)gcC>gcT	p.A838A	ZBTB25_ENST00000555220.1_3'UTR|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.A782A|ZBTB25_ENST00000555424.1_3'UTR|MTHFD1_ENST00000556284.1_3'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	782	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CTTTTGATGCCGTGAAGTGCA	0.547																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2344-2346)gcC>gcT		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						78.0	81.0	80.0					14																	64916229		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64916229C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2514C>T	14.37:g.64916229C>T						ZBTB25_ENST00000555220.1_3'UTR|MTHFD1_ENST00000545908.1_Silent_p.A838A|MTHFD1_ENST00000216605.7_Silent_p.A838A|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR	p.A782A	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	24	2733	+			782			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.2346C>T																																																																																					0.547	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			25	39	0	0	0	1	0	25	39				
TNPO2	30000	broad.mit.edu	37	19	12812258	12812258	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12812258C>T	ENST00000592287.1	-	24	2704	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S	TNPO2_ENST00000450764.2_Missense_Mutation_p.G856S|TNPO2_ENST00000356861.5_Missense_Mutation_p.G856S|TNPO2_ENST00000425528.1_Missense_Mutation_p.G866S|TNPO2_ENST00000588216.1_Missense_Mutation_p.G856S|TNPO2_ENST00000441499.1_Missense_Mutation_p.G856S	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	866					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTGAAGCCGTGGAGAATC	0.592																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2596-2598)Ggc>Agc		transportin 2							81.0	84.0	83.0					19																	12812258		1935	4130	6065	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12812258C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2596G>A	19.37:g.12812258C>T	ENSP00000468434:p.Gly866Ser					TNPO2_ENST00000356861.5_Missense_Mutation_p.G856S|TNPO2_ENST00000588216.1_Missense_Mutation_p.G856S|TNPO2_ENST00000441499.1_Missense_Mutation_p.G856S|TNPO2_ENST00000592287.1_Missense_Mutation_p.G866S|TNPO2_ENST00000450764.2_Missense_Mutation_p.G856S	p.G866S			O14787	TNPO2_HUMAN			25	2953	-			866					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.2596G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627727	0.66901	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861	T;T;T	0.48836	0.8;0.8;0.8	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	M	0.69185	2.1	0.80722	D	1	P;P	0.43578	0.609;0.811	B;B	0.30495	0.116;0.065	T	0.54248	-0.8322	10	0.49607	T	0.09	2.121	17.2076	0.86922	0.0:1.0:0.0:0.0	.	1020;866	Q4LE60;O14787	.;TNPO2_HUMAN	S	1020;866;856;866;856	ENSP00000407182:G866S;ENSP00000389648:G856S;ENSP00000349321:G856S	ENSP00000349321:G856S	G	-	1	0	TNPO2	12673258	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.515000	0.67049	2.354000	0.79902	0.563000	0.77884	GGC		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		27	22	0	0	0	1	0	27	22				
USP44	84101	broad.mit.edu	37	12	95914946	95914946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95914946C>T	ENST00000258499.3	-	5	2054	c.1766G>A	c.(1765-1767)gGt>gAt	p.G589D	USP44_ENST00000393091.2_Missense_Mutation_p.G589D|USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.G589D	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	589	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACATGAACACCAATCTTCTC	0.428																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1765-1767)gGt>gAt		ubiquitin specific peptidase 44							170.0	153.0	158.0					12																	95914946		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95914946C>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1766G>A	12.37:g.95914946C>T	ENSP00000258499:p.Gly589Asp					USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.G589D|USP44_ENST00000393091.2_Missense_Mutation_p.G589D	p.G589D	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			5	2054	-			589					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1766G>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533985	0.85812	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.28069	1.63;1.63;1.63	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.051351	0.85682	D	0.000000	T	0.35941	0.0949	N	0.16166	0.38	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.05886	-1.0858	10	0.07030	T	0.85	.	19.4299	0.94759	0.0:1.0:0.0:0.0	.	589	Q9H0E7	UBP44_HUMAN	D	589	ENSP00000258499:G589D;ENSP00000376806:G589D;ENSP00000442629:G589D	ENSP00000258499:G589D	G	-	2	0	USP44	94439077	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.601000	0.87937	0.485000	0.47835	GGT		0.428	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		5	100	0	0	0	1	0	5	100				
AR	367	broad.mit.edu	37	X	66765080	66765080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66765080G>A	ENST00000374690.3	+	1	616	c.92G>A	c.(91-93)cGc>cAc	p.R31H	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.R31H|AR_ENST00000396044.3_Missense_Mutation_p.R31H	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	31	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CAGAGCGTGCGCGAAGTGATC	0.647									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(91-93)cGc>cAc		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						50.0	48.0	49.0					X																	66765080		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765080G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.92G>A	X.37:g.66765080G>A	ENSP00000363822:p.Arg31His					AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.R31H|AR_ENST00000504326.1_Missense_Mutation_p.R31H	p.R31H	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	616	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	31			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.92G>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.427085	0.83667	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95853	-3.83;-3.83;-3.83	5.34	5.34	0.76211	.	0.130200	0.52532	D	0.000071	D	0.96147	0.8744	L	0.43152	1.355	0.32453	N	0.545142	D;D	0.89917	1.0;0.995	D;D	0.72075	0.976;0.93	D	0.96611	0.9452	10	0.72032	D	0.01	.	13.0002	0.58670	0.0:0.0:1.0:0.0	.	31;31	E7EVX6;D3YPQ2	.;.	H	31	ENSP00000363822:R31H;ENSP00000421155:R31H;ENSP00000379359:R31H	ENSP00000363822:R31H	R	+	2	0	AR	66681805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.369000	0.66138	2.468000	0.83385	0.597000	0.82753	CGC		0.647	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		15	32	0	0	0	1	0	15	32				
RPS11	6205	broad.mit.edu	37	19	50001210	50001210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50001210T>C	ENST00000270625.2	+	4	343	c.260T>C	c.(259-261)gTc>gCc	p.V87A	SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000594493.1_Missense_Mutation_p.V8A|MIR150_ENST00000385048.1_RNA|RPS11_ENST00000599561.1_Silent_p.C52C|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000596873.1_Missense_Mutation_p.V87A	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		AGGACCATTGTCATCCGCCGA	0.572																																						ENST00000270625.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(259-261)gTc>gCc		ribosomal protein S11							100.0	78.0	86.0					19																	50001210		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50001210T>C	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.260T>C	19.37:g.50001210T>C	ENSP00000270625:p.Val87Ala					RPS11_ENST00000599561.1_Silent_p.C52C|RPS11_ENST00000594493.1_Missense_Mutation_p.V8A|RPS11_ENST00000596873.1_Missense_Mutation_p.V87A	p.V87A	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	4	343	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	87					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.260T>C	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130170	0.77549	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	4.89	0.63831	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.062472	0.64402	N	0.000005	T	0.80088	0.4559	H	0.96333	3.805	0.80722	D	1	B	0.30914	0.3	B	0.40982	0.345	T	0.81861	-0.0738	8	.	.	.	-37.3069	10.9115	0.47112	0.0:0.0:0.0:1.0	.	87	P62280	RS11_HUMAN	A	87	.	.	V	+	2	0	RPS11	54693022	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.827000	0.86722	1.830000	0.53286	0.459000	0.35465	GTC		0.572	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		9	34	0	0	0	1	0	9	34				
SORCS1	114815	broad.mit.edu	37	10	108357111	108357111	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108357111G>A	ENST00000263054.6	-	24	3270	c.3263C>T	c.(3262-3264)gCg>gTg	p.A1088V	SORCS1_ENST00000478809.2_5'Flank|SORCS1_ENST00000369698.1_Missense_Mutation_p.A623V|SORCS1_ENST00000344440.6_Missense_Mutation_p.A1088V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1088					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACACTGACCCGCTGTTAAGTG	0.517																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(3262-3264)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							122.0	107.0	112.0					10																	108357111		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108357111G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3263C>T	10.37:g.108357111G>A	ENSP00000263054:p.Ala1088Val					SORCS1_ENST00000369698.1_Missense_Mutation_p.A623V|SORCS1_ENST00000344440.6_Missense_Mutation_p.A1088V	p.A1088V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	24	3270	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1088					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3263C>T	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.457290|3.457290	0.63401|0.63401	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.23552|.	1.9;2.46;2.47|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.130307|.	0.52532|.	D|.	0.000066|.	T|T	0.53965|0.53965	0.1829|0.1829	L|L	0.29908|0.29908	0.895|0.895	0.43007|0.43007	D|D	0.994536|0.994536	P;P;P;P;P|.	0.44690|.	0.507;0.64;0.803;0.841;0.803|.	B;B;B;B;B|.	0.43508|.	0.114;0.228;0.422;0.241;0.422|.	T|T	0.49173|0.49173	-0.8967|-0.8967	9|5	.|.	.|.	.|.	-17.5688|-17.5688	13.1899|13.1899	0.59704|0.59704	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	1088;1088;1088;1088;1088|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	V|W	623;1088;1088|103	ENSP00000358712:A623V;ENSP00000263054:A1088V;ENSP00000345964:A1088V|.	.|.	A|R	-|-	2|1	0|2	SORCS1|SORCS1	108347101|108347101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.323000|4.323000	0.59221|0.59221	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.517	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	27	0	0	0	1	0	5	27				
SSRP1	6749	broad.mit.edu	37	11	57100454	57100454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57100454C>A	ENST00000278412.2	-	5	782	c.516G>T	c.(514-516)gaG>gaT	p.E172D		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	172					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CCACACCATCCTCCTGGGTGG	0.597																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(514-516)gaG>gaT		structure specific recognition protein 1							145.0	121.0	129.0					11																	57100454		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57100454C>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.516G>T	11.37:g.57100454C>A	ENSP00000278412:p.Glu172Asp						p.E172D	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			5	782	-			172					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.516G>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.084133	0.20309	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.45668	0.89;0.89;0.89	6.04	0.944	0.19537	.	0.050639	0.85682	D	0.000000	T	0.16041	0.0386	N	0.01352	-0.895	0.39292	D	0.964747	B;B	0.20988	0.05;0.001	B;B	0.36464	0.225;0.006	T	0.06661	-1.0814	10	0.13853	T	0.58	-34.3021	6.2082	0.20613	0.0:0.5484:0.1162:0.3354	.	471;172	Q59GH7;Q08945	.;SSRP1_HUMAN	D	172;75;75	ENSP00000278412:E172D;ENSP00000431154:E75D;ENSP00000434546:E75D	ENSP00000278412:E172D	E	-	3	2	SSRP1	56857030	0.992000	0.36948	0.997000	0.53966	0.603000	0.37013	0.511000	0.22739	0.147000	0.19030	-0.291000	0.09656	GAG		0.597	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		4	94	1	0	1	1	1	4	94				
ALS2CR11	151254	broad.mit.edu	37	2	202483717	202483717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202483717G>A	ENST00000286195.3	-	1	181	c.137C>T	c.(136-138)tCg>tTg	p.S46L	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S46L	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	46										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGAAGCCTCCGACCCTTTAAT	0.602																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(136-138)tCg>tTg		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							87.0	83.0	84.0					2																	202483717		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202483717G>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.137C>T	2.37:g.202483717G>A	ENSP00000286195:p.Ser46Leu					ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.S46L	p.S46L	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			1	181	-			46					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.137C>T	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384254	0.42308	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.53857	0.61;0.63;0.61;0.6	3.4	1.55	0.23275	.	1.876250	0.03000	N	0.148084	T	0.44244	0.1284	L	0.50333	1.59	0.09310	N	1	P;P;P	0.46220	0.572;0.874;0.874	B;B;B	0.36134	0.056;0.218;0.141	T	0.41627	-0.9498	10	0.72032	D	0.01	.	4.2028	0.10475	0.1222:0.0:0.6519:0.2259	.	46;46;46	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	L	46	ENSP00000286195:S46L;ENSP00000400672:S46L;ENSP00000409937:S46L;ENSP00000399016:S46L	ENSP00000286195:S46L	S	-	2	0	ALS2CR11	202191962	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.254000	0.08781	0.433000	0.26313	-0.311000	0.09066	TCG		0.602	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		29	34	0	0	0	1	0	29	34				
LFNG	3955	broad.mit.edu	37	7	2565976	2565976	+	Missense_Mutation	SNP	G	G	A	rs201791522	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2565976G>A	ENST00000222725.5	+	6	940	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LFNG_ENST00000402506.1_Missense_Mutation_p.R236H|LFNG_ENST00000402045.1_Missense_Mutation_p.R178H|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000359574.3_Missense_Mutation_p.R307H|LFNG_ENST00000338732.3_Missense_Mutation_p.R178H	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	307					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCCCTCATCCGCAGCGGCCTC	0.667													G|||	5	0.000998403	0.0	0.0	5008	,	,		16097	0.004		0.0	False		,,,				2504	0.001					ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(919-921)cGc>cAc		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	63.0	62.0		920,920,707,533	4.6	0.8	7		62	0,8600		0,0,4300	yes	missense,missense,missense,missense	LFNG	NM_001040167.1,NM_001040168.1,NM_001166355.1,NM_002304.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	307/380,307/362,236/309,178/251	2565976	1,13005	2203	4300	6503	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565976G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.920G>A	7.37:g.2565976G>A	ENSP00000222725:p.Arg307His					LFNG_ENST00000402045.1_Missense_Mutation_p.R178H|LFNG_ENST00000359574.3_Missense_Mutation_p.R307H|LFNG_ENST00000402506.1_Missense_Mutation_p.R236H|LFNG_ENST00000338732.3_Missense_Mutation_p.R178H	p.R307H	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	6	940	+		Ovarian(82;0.0112)	307					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.920G>A	CCDS34587.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.390	1.075369	0.20227	2.27E-4	0.0	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	N	0.03194	-0.395	0.80722	D	1	B;B	0.21381	0.055;0.028	B;B	0.21708	0.032;0.036	T	0.26780	-1.0093	10	0.20519	T	0.43	-34.7396	17.318	0.87229	0.0:0.0:1.0:0.0	.	307;307	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	H	236;178;178;307;307	ENSP00000385764:R236H;ENSP00000384786:R178H;ENSP00000343095:R178H;ENSP00000222725:R307H;ENSP00000352579:R307H	ENSP00000222725:R307H	R	+	2	0	LFNG	2532502	1.000000	0.71417	0.756000	0.31282	0.274000	0.26718	7.424000	0.80242	2.069000	0.61940	0.561000	0.74099	CGC		0.667	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		65	29	0	0	0	1	0	65	29				
TRIM35	23087	broad.mit.edu	37	8	27151645	27151645	+	Silent	SNP	G	G	A	rs144594991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27151645G>A	ENST00000305364.4	-	3	797	c.714C>T	c.(712-714)atC>atT	p.I238I	TRIM35_ENST00000521253.1_Silent_p.I206I	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	238					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGCCGCTCGATCTCATGTG	0.552													G|||	13	0.00259585	0.0098	0.0	5008	,	,		18909	0.0		0.0	False		,,,				2504	0.0					ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(712-714)atC>atT		tripartite motif containing 35		G		27,4379	33.5+/-64.1	1,25,2177	115.0	95.0	102.0		714	-11.5	0.3	8	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous	TRIM35	NM_171982.3		1,25,6477	AA,AG,GG		0.0,0.6128,0.2076		238/494	27151645	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27151645G>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.714C>T	8.37:g.27151645G>A						TRIM35_ENST00000521253.1_Silent_p.I206I	p.I238I	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	3	797	-		Ovarian(32;2.61e-05)	238					Q86XQ0|Q8WVA4	Silent	SNP	ENST00000305364.4	37	c.714C>T	CCDS6056.2	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	3.668	-0.068035	0.07228	0.006128	0.0	ENSG00000104228	ENST00000521283	.	.	.	5.82	-11.5	0.00074	.	.	.	.	.	T	0.42675	0.1213	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.71321	-0.4628	4	.	.	.	.	15.8029	0.78471	0.2346:0.1017:0.6637:0.0	.	.	.	.	L	3	.	.	S	-	2	0	TRIM35	27207562	0.000000	0.05858	0.326000	0.25389	0.324000	0.28378	-0.585000	0.05794	-2.168000	0.00778	-2.069000	0.00389	TCG		0.552	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		25	30	0	0	0	1	0	25	30				
SETMAR	6419	broad.mit.edu	37	3	4355498	4355498	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355498G>A	ENST00000358065.4	+	2	1087				SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Nonsense_Mutation_p.W358*	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene						DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGAAGACAGTGGTTGGCTAGC	0.493								Chromatin Structure																														ENST00000430981.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(1072-1074)tGg>tAg	Chromatin Structure	SET domain and mariner transposase fusion gene																																				SO:0001627	intron_variant	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355498G>A	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1020+53G>A	3.37:g.4355498G>A						SETMAR_ENST00000358065.4_Intron|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	p.W358*	NM_001276325.1	NP_001263254.1	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	1083	+		Melanoma(143;0.0657)	0			Mariner transposase Hsmar1.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Nonsense_Mutation	SNP	ENST00000358065.4	37	c.1073G>A	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436742	0.43224	.	.	ENSG00000170364	ENST00000430981	.	.	.	3.45	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7649	0.23560	0.1275:0.0:0.8725:0.0	.	.	.	.	X	358	.	.	W	+	2	0	SETMAR	4330498	0.636000	0.27207	0.005000	0.12908	0.003000	0.03518	1.112000	0.31172	1.010000	0.39314	-0.136000	0.14681	TGG		0.493	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		3	36	0	0	0	1	0	3	36				
GLUL	2752	broad.mit.edu	37	1	182353692	182353692	+	Missense_Mutation	SNP	G	G	A	rs80358214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182353692G>A	ENST00000331872.6	-	7	1510	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	GLUL_ENST00000339526.4_Missense_Mutation_p.R324C|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.R324C|GLUL_ENST00000311223.5_Missense_Mutation_p.R324C	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	324			R -> C (in CSGD; reduced glutamine synthetase activity). {ECO:0000269|PubMed:16267323}.		cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CGGGGAATGCGTATGCTGGCG	0.552																																						ENST00000311223.5																			0				endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16	GRCh37	CM057402	GLUL	M	rs80358214	c.(970-972)Cgc>Tgc		glutamate-ammonia ligase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						102.0	92.0	95.0					1																	182353692		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182353692G>A	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.970C>T	1.37:g.182353692G>A	ENSP00000356537:p.Arg324Cys					GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000331872.6_Missense_Mutation_p.R324C|GLUL_ENST00000417584.2_Missense_Mutation_p.R324C|GLUL_ENST00000339526.4_Missense_Mutation_p.R324C	p.R324C	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN			8	1866	-			324		R -> C (in CSGD; reduced glutamine synthetase activity).			Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.970C>T	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633261	0.87660	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.34	5.34	0.76211	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96510	0.8861	H	0.95365	3.66	0.80722	D	1	P	0.47484	0.896	B	0.43508	0.422	D	0.97782	1.0233	10	0.87932	D	0	-19.7213	17.5747	0.87946	0.0:0.0:1.0:0.0	.	324	P15104	GLNA_HUMAN	C	324	ENSP00000356537:R324C;ENSP00000307900:R324C;ENSP00000398320:R324C;ENSP00000344958:R324C	ENSP00000307900:R324C	R	-	1	0	GLUL	180620315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.334000	0.79224	2.488000	0.83962	0.563000	0.77884	CGC		0.552	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		23	41	0	0	0	1	0	23	41				
SDPR	8436	broad.mit.edu	37	2	192701419	192701419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192701419C>T	ENST00000304141.4	-	2	837	c.508G>A	c.(508-510)Gtg>Atg	p.V170M		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTCACAAACACGCTGGCAGGG	0.488																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(508-510)Gtg>Atg		serum deprivation response	Phosphatidylserine(DB00144)						35.0	39.0	37.0					2																	192701419		2196	4296	6492	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701419C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.508G>A	2.37:g.192701419C>T	ENSP00000305675:p.Val170Met						p.V170M	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	837	-			170						Missense_Mutation	SNP	ENST00000304141.4	37	c.508G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194054	0.78902	.	.	ENSG00000168497	ENST00000304141	T	0.61274	0.12	5.69	4.81	0.61882	.	0.071110	0.56097	D	0.000023	T	0.74298	0.3698	M	0.72894	2.215	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.77653	-0.2507	10	0.72032	D	0.01	-22.7466	14.5217	0.67853	0.0:0.9296:0.0:0.0704	.	170	O95810	SDPR_HUMAN	M	170	ENSP00000305675:V170M	ENSP00000305675:V170M	V	-	1	0	SDPR	192409664	1.000000	0.71417	0.957000	0.39632	0.733000	0.41908	5.780000	0.68956	1.408000	0.46895	0.563000	0.77884	GTG		0.488	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		14	15	0	0	0	1	0	14	15				
GRHL3	57822	broad.mit.edu	37	1	24673118	24673118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24673118C>T	ENST00000350501.5	+	13	1657	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	GRHL3_ENST00000342072.4_Silent_p.G417G|GRHL3_ENST00000236255.4_Silent_p.G515G|GRHL3_ENST00000356046.2_Silent_p.G464G|GRHL3_ENST00000361548.4_Silent_p.G510G	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	510					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCAAGGAAGGCGACCTTCAGA	0.632																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1528-1530)ggC>ggT		grainyhead-like 3 (Drosophila)							66.0	58.0	61.0					1																	24673118		2203	4299	6502	SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24673118C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1530C>T	1.37:g.24673118C>T						GRHL3_ENST00000236255.4_Silent_p.G515G|GRHL3_ENST00000356046.2_Silent_p.G464G|GRHL3_ENST00000350501.5_Silent_p.G510G|GRHL3_ENST00000342072.4_Silent_p.G417G	p.G510G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	13	1760	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	510					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.1530C>T	CCDS252.2																																																																																				0.632	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		6	14	0	0	0	1	0	6	14				
SCRT2	85508	broad.mit.edu	37	20	644558	644558	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:644558C>T	ENST00000246104.6	-	2	1258	c.681G>A	c.(679-681)ctG>ctA	p.L227L	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	227					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						TGTGACCCTGCAGCAGCCAGG	0.692																																						ENST00000246104.6																			0				kidney(1)|liver(1)|ovary(1)	3						c.(679-681)ctG>ctA		scratch family zinc finger 2							18.0	17.0	17.0					20																	644558		2199	4296	6495	SO:0001819	synonymous_variant	85508				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:644558C>T		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.681G>A	20.37:g.644558C>T						RP5-850E9.3_ENST00000488788.2_Intron	p.L227L	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN			2	1258	-			227						Silent	SNP	ENST00000246104.6	37	c.681G>A	CCDS13006.1																																																																																				0.692	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		5	8	0	0	0	1	0	5	8				
BRCA2	675	broad.mit.edu	37	13	32912948	32912948	+	Missense_Mutation	SNP	G	G	A	rs80359450|rs80359449		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912948G>A	ENST00000380152.3	+	11	4689	c.4456G>A	c.(4456-4458)Gtt>Att	p.V1486I	BRCA2_ENST00000544455.1_Missense_Mutation_p.V1486I			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1486	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACAGACATAGTTAAACACAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD994642	BRCA2	D	rs80359450	c.(4456-4458)Gtt>Att	Homologous recombination	breast cancer 2, early onset							52.0	55.0	54.0					13																	32912948		2201	4297	6498	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912948G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4456G>A	13.37:g.32912948G>A	ENSP00000369497:p.Val1486Ile	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.V1486I	p.V1486I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4683	+		Lung SC(185;0.0262)	1486					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4456G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.530	-0.858442	0.02610	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00669	5.9;5.9	5.95	-1.15	0.09709	.	1.477680	0.03798	N	0.264014	T	0.00695	0.0023	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.49062	-0.8978	10	0.21540	T	0.41	.	1.3678	0.02205	0.3883:0.0957:0.1526:0.3634	.	1486	P51587	BRCA2_HUMAN	I	1486	ENSP00000369497:V1486I;ENSP00000439902:V1486I	ENSP00000369497:V1486I	V	+	1	0	BRCA2	31810948	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.008000	0.13197	-0.295000	0.08960	-0.309000	0.09137	GTT		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		18	37	0	0	0	1	0	18	37				
SLC5A10	125206	broad.mit.edu	37	17	18863864	18863864	+	Missense_Mutation	SNP	G	G	A	rs267604770		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18863864G>A	ENST00000395645.3	+	5	370	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	SLC5A10_ENST00000395643.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000317977.6_Missense_Mutation_p.V62I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V62I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	118					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TTCCCAGATCGTCACCTTACC	0.587											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(184-186)Gtc>Atc		solute carrier family 5 (sodium/sugar cotransporter), member 10							197.0	166.0	177.0					17																	18863864		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18863864G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.352G>A	17.37:g.18863864G>A	ENSP00000379007:p.Val118Ile		OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	SLC5A10_ENST00000395645.3_Missense_Mutation_p.V118I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V62I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V118I	p.V62I			A0PJK1	SC5AA_HUMAN			5	755	+			118					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.184G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587924	0.66105	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.90676	-2.71;-2.34;-2.71;-2.34;-2.34;-2.17	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.91405	0.7288	L	0.41079	1.255	0.58432	D	0.999996	D;D;D;D;D	0.64830	0.971;0.993;0.994;0.993;0.982	P;P;P;P;P	0.60886	0.787;0.682;0.787;0.682;0.88	D	0.90415	0.4412	10	0.35671	T	0.21	.	14.0696	0.64852	0.0:0.152:0.848:0.0	.	118;118;118;118;62	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	I	62;118;62;118;118;118	ENSP00000324346:V62I;ENSP00000379008:V118I;ENSP00000379004:V62I;ENSP00000401875:V118I;ENSP00000379007:V118I;ENSP00000379005:V118I	ENSP00000324346:V62I	V	+	1	0	SLC5A10	18804589	1.000000	0.71417	0.903000	0.35520	0.452000	0.32318	5.869000	0.69613	2.219000	0.72066	0.561000	0.74099	GTC		0.587	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		42	72	0	0	0	1	0	42	72				
SEL1L	6400	broad.mit.edu	37	14	81970627	81970627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81970627G>A	ENST00000336735.4	-	5	648	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	SEL1L_ENST00000555824.1_Missense_Mutation_p.R178W	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	178	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGCATCTGCCGTCTCTTAGCA	0.353																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(532-534)Cgg>Tgg		sel-1 suppressor of lin-12-like (C. elegans)							208.0	184.0	192.0					14																	81970627		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81970627G>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.532C>T	14.37:g.81970627G>A	ENSP00000337053:p.Arg178Trp					SEL1L_ENST00000555824.1_Missense_Mutation_p.R178W	p.R178W	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	5	648	-			178			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.532C>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670704	0.67814	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	T;T;T	0.40756	1.55;1.21;1.02	5.73	2.76	0.32466	Tetratricopeptide-like helical (1);	0.059107	0.64402	D	0.000005	T	0.57051	0.2027	L	0.53249	1.67	0.49130	D	0.99975	D;D	0.89917	0.994;1.0	B;D	0.68765	0.409;0.96	T	0.54814	-0.8237	10	0.44086	T	0.13	.	15.0645	0.71983	0.0:0.0:0.44:0.56	.	178;178	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	W	178;178;157	ENSP00000337053:R178W;ENSP00000450709:R178W;ENSP00000451144:R157W	ENSP00000337053:R178W	R	-	1	2	SEL1L	81040380	1.000000	0.71417	0.604000	0.28916	0.999000	0.98932	2.082000	0.41605	0.287000	0.22375	0.591000	0.81541	CGG		0.353	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		6	86	0	0	0	1	0	6	86				
MMEL1	79258	broad.mit.edu	37	1	2522446	2522446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2522446G>A	ENST00000378412.3	-	24	2484	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000444521.2_3'UTR|MMEL1_ENST00000288709.6_Nonsense_Mutation_p.R766*|FAM213B_ENST00000419916.2_3'UTR|FAM213B_ENST00000378424.4_3'UTR|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R618*|FAM213B_ENST00000378425.5_3'UTR			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	775						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACGCGGCATCGCTCCTTGGGG	0.701																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(2296-2298)Cga>Tga		membrane metallo-endopeptidase-like 1							28.0	31.0	30.0					1																	2522446		2200	4299	6499	SO:0001587	stop_gained	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2522446G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2323C>T	1.37:g.2522446G>A	ENSP00000367668:p.Arg775*					FAM213B_ENST00000378424.4_3'UTR|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R775*|FAM213B_ENST00000378425.5_3'UTR|FAM213B_ENST00000444521.2_3'UTR|FAM213B_ENST00000484099.1_3'UTR|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R618*|FAM213B_ENST00000419916.2_3'UTR	p.R766*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	24	2536	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	775					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Nonsense_Mutation	SNP	ENST00000378412.3	37	c.2296C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	36	5.912519	0.97099	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	.	.	.	4.53	3.52	0.40303	.	0.059122	0.64402	D	0.000003	.	.	.	.	.	.	0.49213	D	0.999761	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-8.2841	9.0807	0.36550	0.0:0.0:0.5601:0.4399	.	.	.	.	X	618;766;775;618	.	ENSP00000288709:R766X	R	-	1	2	MMEL1	2512306	0.917000	0.31117	0.916000	0.36221	0.656000	0.38851	3.938000	0.56583	2.071000	0.62044	0.655000	0.94253	CGA		0.701	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		6	7	0	0	0	1	0	6	7				
CXorf23	256643	broad.mit.edu	37	X	19983521	19983521	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19983521C>A	ENST00000379682.4	-	3	948	c.915G>T	c.(913-915)aaG>aaT	p.K305N	CXorf23_ENST00000379687.3_Missense_Mutation_p.K305N|CXorf23_ENST00000356980.3_Missense_Mutation_p.K305N			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	305						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TATCTTCTTCCTTACAGTACT	0.403																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(913-915)aaG>aaT		chromosome X open reading frame 23							81.0	75.0	77.0					X																	19983521		1841	4071	5912	SO:0001583	missense	256643					mitochondrion		g.chrX:19983521C>A	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.915G>T	X.37:g.19983521C>A	ENSP00000369004:p.Lys305Asn					CXorf23_ENST00000379682.4_Missense_Mutation_p.K305N|CXorf23_ENST00000356980.3_Missense_Mutation_p.K305N	p.K305N	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			3	948	-			305					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.915G>T		.	.	.	.	.	.	.	.	.	.	C	14.50	2.555229	0.45487	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.16196	2.36;2.36;2.36	5.46	-0.441	0.12257	.	.	.	.	.	T	0.25306	0.0615	L	0.34521	1.04	0.24736	N	0.993062	D;D	0.63046	0.992;0.992	P;D	0.68039	0.73;0.955	T	0.20505	-1.0273	8	.	.	.	.	10.4457	0.44493	0.0:0.6041:0.0:0.3959	.	305;305	A2AJT9-2;A2AJT9	.;CX023_HUMAN	N	305;305;305;193	ENSP00000369009:K305N;ENSP00000369004:K305N;ENSP00000349470:K305N	.	K	-	3	2	CXorf23	19893442	0.987000	0.35691	0.045000	0.18777	0.983000	0.72400	0.152000	0.16302	-0.516000	0.06470	-0.263000	0.10527	AAG		0.403	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		61	62	1	0	1.4709e-25	1	1.95621e-25	61	62				
ACAD10	80724	broad.mit.edu	37	12	112174796	112174796	+	Nonsense_Mutation	SNP	C	C	T	rs544200576		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112174796C>T	ENST00000313698.4	+	12	1857	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	ACAD10_ENST00000392636.2_Nonsense_Mutation_p.R170*|ACAD10_ENST00000455480.2_Nonsense_Mutation_p.R599*|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Nonsense_Mutation_p.R568*	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	568						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTCTACAAGCGATCACTCAC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		15097	0.001		0.0	False		,,,				2504	0.0					ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1795-1797)Cga>Tga		acyl-CoA dehydrogenase family, member 10							98.0	91.0	93.0					12																	112174796		2203	4300	6503	SO:0001587	stop_gained	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112174796C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1702C>T	12.37:g.112174796C>T	ENSP00000325137:p.Arg568*					ACAD10_ENST00000549590.1_Nonsense_Mutation_p.R568*|ACAD10_ENST00000313698.4_Nonsense_Mutation_p.R568*|ACAD10_ENST00000392636.2_Nonsense_Mutation_p.R170*|ACAD10_ENST00000413681.3_3'UTR	p.R599*	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			13	1972	+			568					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Nonsense_Mutation	SNP	ENST00000313698.4	37	c.1795C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	46	12.128861	0.99638	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	.	.	.	5.29	5.29	0.74685	.	0.237591	0.40064	N	0.001181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2636	0.60120	0.0:0.9212:0.0:0.0788	.	.	.	.	X	170;568;568;599;568	.	ENSP00000325137:R568X	R	+	1	2	ACAD10	110659179	1.000000	0.71417	0.945000	0.38365	0.092000	0.18411	2.048000	0.41278	2.483000	0.83821	0.561000	0.74099	CGA		0.552	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		20	37	0	0	0	1	0	20	37				
PLA2G4C	8605	broad.mit.edu	37	19	48608606	48608606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48608606C>A	ENST00000599921.1	-	3	461	c.104G>T	c.(103-105)aGg>aTg	p.R35M	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.R35M|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R45M|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R35M			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	35	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGCCTCAATCCTTAGCTTCTT	0.557																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(103-105)aGg>aTg		phospholipase A2, group IVC (cytosolic, calcium-independent)							111.0	119.0	116.0					19																	48608606		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48608606C>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.104G>T	19.37:g.48608606C>A	ENSP00000469473:p.Arg35Met					PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R35M|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R35M|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R45M	p.R35M	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	3	431	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	35			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.104G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	7.326	0.618018	0.14129	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04083	3.71;3.71	2.72	-5.44	0.02624	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	P;P;P	0.45594	0.862;0.862;0.862	B;B;B	0.40864	0.342;0.342;0.321	T	0.36480	-0.9746	9	0.54805	T	0.06	0.2171	11.4115	0.49929	0.0:0.7367:0.0:0.2633	.	45;35;35	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	M	35	ENSP00000346228:R35M;ENSP00000400036:R35M	ENSP00000346228:R35M	R	-	2	0	PLA2G4C	53300418	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.706000	0.05047	-1.562000	0.01682	-1.021000	0.02439	AGG		0.557	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			41	79	1	0	4.16155e-14	1	5.30191e-14	41	79				
KRT79	338785	broad.mit.edu	37	12	53224077	53224077	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53224077C>A	ENST00000330553.5	-	3	733		c.e3-1			NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCGTACCTGTTACACAT	0.567																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e3-1		keratin 79							151.0	117.0	128.0					12																	53224077		2203	4300	6503	SO:0001630	splice_region_variant	338785					keratin filament	structural molecule activity	g.chr12:53224077C>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.699-1G>T	12.37:g.53224077C>A								NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			3	733	-								Q6P465|Q7Z793	Splice_Site	SNP	ENST00000330553.5	37		CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016756	0.75161	.	.	ENSG00000185640	ENST00000330553	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0589	0.86541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT79	51510344	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.887000	0.75616	2.799000	0.96334	0.650000	0.86243	.		0.567	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	Intron	4	60	1	0	0.150653	1	0.152692	4	60				
HOXA9	3205	broad.mit.edu	37	7	27203390	27203390	+	Missense_Mutation	SNP	C	C	A	rs368804154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203390C>A	ENST00000343483.6	-	2	723	c.651G>T	c.(649-651)caG>caT	p.Q217H	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.Q57H	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	217					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GTTCCAGGGTCTGGTGTTTTG	0.552			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(649-651)caG>caT		homeobox A9							116.0	109.0	111.0					7																	27203390		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203390C>A		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.651G>T	7.37:g.27203390C>A	ENSP00000343619:p.Gln217His					HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.Q57H|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	p.Q217H	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			2	723	-			217					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.651G>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318782	0.60524	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.98044	-4.68;-4.68	5.21	1.62	0.23740	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000020	D	0.98979	0.9652	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98063	1.0394	10	0.87932	D	0	.	7.9811	0.30183	0.0:0.5726:0.0:0.4274	.	217	P31269	HXA9_HUMAN	H	217;141;208;57	ENSP00000343619:Q217H;ENSP00000421799:Q57H	ENSP00000242050:Q208H	Q	-	3	2	RP1-170O19.20;HOXA9	27169915	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.615000	0.24329	0.594000	0.29761	0.561000	0.74099	CAG		0.552	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			5	82	1	0	0.184627	1	0.186383	5	82				
CEP85	64793	broad.mit.edu	37	1	26597551	26597551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26597551G>T	ENST00000252992.4	+	10	1827	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	CEP85_ENST00000451429.2_Nonsense_Mutation_p.E515*|CEP85_ENST00000469609.1_3'UTR	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	566						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AGAAGGTCCAGAAGTGGAAAT	0.512																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(1696-1698)Gaa>Taa		centrosomal protein 85kDa							121.0	111.0	114.0					1																	26597551		2203	4300	6503	SO:0001587	stop_gained	64793					centrosome|nucleolus|spindle pole		g.chr1:26597551G>T	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1696G>T	1.37:g.26597551G>T	ENSP00000252992:p.Glu566*					CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Nonsense_Mutation_p.E515*	p.E566*	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			10	1827	+			566					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Nonsense_Mutation	SNP	ENST00000252992.4	37	c.1696G>T	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.377751|4.377751	0.82682|0.82682	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	.|.	.|.	.|.	5.28|5.28	1.62|1.62	0.23740|0.23740	.|.	0.910703|.	0.09620|.	N|.	0.777683|.	.|T	.|0.39358	.|0.1075	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44436	.|-0.9328	.|3	0.02654|.	T|.	1|.	3.9365|3.9365	6.0783|6.0783	0.19927|0.19927	0.5738:0.3398:0.0864:0.0|0.5738:0.3398:0.0864:0.0	.|.	.|.	.|.	.|.	X|H	515;566|239	.|.	ENSP00000252992:E566X|.	E|Q	+|+	1|3	0|2	CEP85|CEP85	26470138|26470138	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.885000|0.885000	0.51271|0.51271	0.622000|0.622000	0.24433|0.24433	0.098000|0.098000	0.17522|0.17522	-0.302000|-0.302000	0.09304|0.09304	GAA|CAG		0.512	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		17	22	1	0	6.49762e-13	1	8.19883e-13	17	22				
CAPN11	11131	broad.mit.edu	37	6	44141025	44141025	+	Missense_Mutation	SNP	G	G	A	rs375545266		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44141025G>A	ENST00000398776.1	+	7	771	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	CAPN11_ENST00000542245.1_Missense_Mutation_p.V245M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	245	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACAGGAGGCGTGGCCCAGAG	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(733-735)Gtg>Atg		calpain 11		G	MET/VAL	2,3934		0,2,1966	72.0	76.0	75.0		733	2.6	0.1	6		75	0,8306		0,0,4153	no	missense	CAPN11	NM_007058.3	21	0,2,6119	AA,AG,GG		0.0,0.0508,0.0163	benign	245/740	44141025	2,12240	1968	4153	6121	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44141025G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.733G>A	6.37:g.44141025G>A	ENSP00000381758:p.Val245Met		OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	CAPN11_ENST00000542245.1_Missense_Mutation_p.V245M	p.V245M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	771	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		245			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.733G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095376	0.36952	5.08E-4	0.0	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.89681	-2.55;-2.55	4.36	2.56	0.30785	Peptidase C2, calpain, catalytic domain (3);	0.162721	0.29126	N	0.013062	D	0.83529	0.5274	M	0.93550	3.43	0.36259	D	0.854447	D	0.53462	0.96	B	0.30782	0.12	D	0.84135	0.0414	10	0.62326	D	0.03	.	10.685	0.45837	0.1615:0.0:0.8385:0.0	.	245	Q9UMQ6	CAN11_HUMAN	M	245	ENSP00000381758:V245M;ENSP00000441078:V245M	ENSP00000381758:V245M	V	+	1	0	CAPN11	44249003	0.469000	0.25846	0.110000	0.21437	0.703000	0.40648	0.707000	0.25704	0.770000	0.33336	0.650000	0.86243	GTG		0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			5	64	0	0	0	1	0	5	64				
AHDC1	27245	broad.mit.edu	37	1	27876321	27876321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876321G>A	ENST00000247087.5	-	5	2902	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	AHDC1_ENST00000374011.2_Missense_Mutation_p.A769V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	769	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTTATCCCCGGCCCACTCAGC	0.667																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2305-2307)gCc>gTc		AT hook, DNA binding motif, containing 1							41.0	45.0	43.0					1																	27876321		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27876321G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2306C>T	1.37:g.27876321G>A	ENSP00000247087:p.Ala769Val					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A769V	p.A769V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3274	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	769			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2306C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	3.772	-0.047515	0.07407	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.46451	0.87;0.87	5.87	1.77	0.24775	.	0.670270	0.13394	N	0.391150	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B	0.26809	0.16	B	0.28232	0.087	T	0.23511	-1.0186	10	0.27082	T	0.32	-1.9421	8.5659	0.33538	0.1348:0.3491:0.5161:0.0	.	769	Q5TGY3	AHDC1_HUMAN	V	769	ENSP00000247087:A769V;ENSP00000363123:A769V	ENSP00000247087:A769V	A	-	2	0	AHDC1	27748908	0.200000	0.23398	0.049000	0.19019	0.240000	0.25518	1.875000	0.39578	0.073000	0.16731	-0.181000	0.13052	GCC		0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			7	51	0	0	0	1	0	7	51				
LRP4	4038	broad.mit.edu	37	11	46911497	46911497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46911497G>A	ENST00000378623.1	-	15	2332	c.2090C>T	c.(2089-2091)gCa>gTa	p.A697V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	697					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTTTTTACCTGCAGGTTGGCG	0.517											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2089-2091)gCa>gTa		low density lipoprotein receptor-related protein 4							144.0	133.0	137.0					11																	46911497		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911497G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2090C>T	11.37:g.46911497G>A	ENSP00000367888:p.Ala697Val		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.A697V	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	15	2332	-			697					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2090C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868243	0.72065	.	.	ENSG00000134569	ENST00000378623	D	0.91740	-2.9	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.209202	0.49916	D	0.000124	D	0.85186	0.5639	N	0.05554	-0.025	0.58432	D	0.999996	B	0.23058	0.079	B	0.24006	0.05	T	0.78841	-0.2045	10	0.22109	T	0.4	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	697	O75096	LRP4_HUMAN	V	697	ENSP00000367888:A697V	ENSP00000367888:A697V	A	-	2	0	LRP4	46868073	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.863000	0.87023	2.941000	0.99782	0.655000	0.94253	GCA		0.517	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		22	30	0	0	0	1	0	22	30				
CYP2D6	1565	broad.mit.edu	37	22	42523854	42523854	+	Silent	SNP	C	C	T	rs79292917	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42523854C>T	ENST00000360608.5	-	6	1089	c.975G>A	c.(973-975)ccG>ccA	p.P325P	NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.P325P|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.P274P|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	325					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTGCACATCCGGATGTAGGA	0.627													C|||	3	0.000599042	0.0	0.0014	5008	,	,		21481	0.0		0.002	False		,,,				2504	0.0					ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM063948	CYP2D6	M	rs79292917	c.(973-975)ccG>ccA		cytochrome P450, family 2, subfamily D, polypeptide 6		C	,	6,4386	11.4+/-27.6	1,4,2191	73.0	68.0	69.0		975,822	-8.9	0.4	22	dbSNP_131	69	28,8568	20.4+/-63.3	0,28,4270	no	coding-synonymous,coding-synonymous	CYP2D6	NM_000106.4,NM_001025161.1	,	1,32,6461	TT,TC,CC		0.3257,0.1366,0.2618	,	325/498,274/447	42523854	34,12954	2196	4298	6494	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523854C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.975G>A	22.37:g.42523854C>T						CYP2D6_ENST00000359033.4_Silent_p.P274P|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.P325P	p.P325P	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			6	1089	-			325					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.975G>A	CCDS46721.1																																																																																				0.627	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			19	31	0	0	0	1	0	19	31				
FAM66D	100132923	broad.mit.edu	37	8	11986358	11986358	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11986358C>T	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AAGTCAGCAGCCAATGCCTGT	0.537																																						ENST00000434078.2																			0																																																			0							g.chr8:11986358C>T			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986358C>T								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.537	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		4	1	0	0	0	1	0	4	1				
G6PC	2538	broad.mit.edu	37	17	41052903	41052903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41052903G>T	ENST00000253801.2	+	1	89	c.10G>T	c.(10-12)Gga>Tga	p.G4*	G6PC_ENST00000585489.1_Nonsense_Mutation_p.G4*|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000592383.1_Nonsense_Mutation_p.G4*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	4					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATGGAGGAAGGAATGAATGT	0.502																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(10-12)Gga>Tga		glucose-6-phosphatase, catalytic subunit							95.0	75.0	82.0					17																	41052903		2203	4300	6503	SO:0001587	stop_gained	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41052903G>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.10G>T	17.37:g.41052903G>T	ENSP00000253801:p.Gly4*					G6PC_ENST00000585489.1_Nonsense_Mutation_p.G4*|G6PC_ENST00000592383.1_Nonsense_Mutation_p.G4*	p.G4*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	89	+		Breast(137;0.000143)	4					A1L4C0|B4E1C3|K7EL82	Nonsense_Mutation	SNP	ENST00000253801.2	37	c.10G>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231900	0.95207	.	.	ENSG00000131482	ENST00000253801	.	.	.	5.27	3.2	0.36748	.	0.334722	0.26804	N	0.022413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.356	0.16061	0.3134:0.143:0.5436:0.0	.	.	.	.	X	4	.	ENSP00000253801:G4X	G	+	1	0	G6PC	38306429	0.042000	0.20092	0.747000	0.31113	0.971000	0.66376	0.661000	0.25023	0.697000	0.31718	0.650000	0.86243	GGA		0.502	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		4	38	1	0	0.150653	1	0.152692	4	38				
SETD1A	9739	broad.mit.edu	37	16	30976233	30976233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30976233G>T	ENST00000262519.8	+	7	1856	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	390	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACACGGGAGGAACCCCCTG	0.592																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1168-1170)gaG>gaT		SET domain containing 1A							118.0	130.0	126.0					16																	30976233		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976233G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1170G>T	16.37:g.30976233G>T	ENSP00000262519:p.Glu390Asp						p.E390D	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			7	1856	+			390			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1170G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	5.982	0.365164	0.11296	.	.	ENSG00000099381	ENST00000262519	D	0.94537	-3.45	5.64	1.41	0.22369	.	0.472030	0.22121	N	0.064335	D	0.89181	0.6642	L	0.48642	1.525	0.21553	N	0.999646	B	0.02656	0.0	B	0.04013	0.001	T	0.74621	-0.3604	10	0.20046	T	0.44	.	6.9718	0.24652	0.127:0.1041:0.6617:0.1072	.	390	O15047	SET1A_HUMAN	D	390	ENSP00000262519:E390D	ENSP00000262519:E390D	E	+	3	2	SETD1A	30883734	0.999000	0.42202	0.932000	0.37286	0.006000	0.05464	0.526000	0.22971	-0.150000	0.11195	-1.134000	0.01955	GAG		0.592	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		62	144	1	0	2.17656e-39	1	2.93526e-39	62	144				
SYNE2	23224	broad.mit.edu	37	14	64606673	64606673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64606673C>T	ENST00000344113.4	+	80	15070	c.14858C>T	c.(14857-14859)tCg>tTg	p.S4953L	SYNE2_ENST00000357395.3_Missense_Mutation_p.S1338L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4953L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4870L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1338L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1587L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4953					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S4953L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAGAGATTCGGATCAGTTA	0.378																																						ENST00000357395.3																			1	Substitution - Missense(1)	p.S4953L(1)	lung(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4012-4014)tCg>tTg		spectrin repeat containing, nuclear envelope 2							113.0	105.0	108.0					14																	64606673		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64606673C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14858C>T	14.37:g.64606673C>T	ENSP00000341781:p.Ser4953Leu					SYNE2_ENST00000555002.1_Missense_Mutation_p.S1587L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1338L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.S4953L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4870L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4953L	p.S1338L			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	81	15157	+			4953					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4013C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465270	0.26335	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.84	5.84	0.93424	.	0.348779	0.20723	N	0.086873	T	0.45296	0.1335	M	0.74881	2.28	0.80722	D	1	P;D;D	0.56968	0.925;0.97;0.978	P;P;P	0.50109	0.527;0.604;0.631	T	0.32771	-0.9894	10	0.11794	T	0.64	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	1338;4953;4953	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	L	4953;1338;4953;4870;4876;1587;1338	ENSP00000350719:S4953L;ENSP00000349969:S1338L;ENSP00000341781:S4953L;ENSP00000452570:S4870L;ENSP00000450831:S1587L;ENSP00000378249:S1338L	ENSP00000261678:S4876L	S	+	2	0	SYNE2	63676426	1.000000	0.71417	0.996000	0.52242	0.157000	0.22087	5.272000	0.65559	2.775000	0.95449	0.655000	0.94253	TCG		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		26	43	0	0	0	1	0	26	43				
PTPRD	5789	broad.mit.edu	37	9	8460414	8460414	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8460414T>G	ENST00000381196.4	-	30	4415	c.3872A>C	c.(3871-3873)aAa>aCa	p.K1291T	PTPRD_ENST00000397611.3_Missense_Mutation_p.K877T|PTPRD_ENST00000537002.1_Missense_Mutation_p.K877T|PTPRD_ENST00000360074.4_Missense_Mutation_p.K1278T|PTPRD_ENST00000358503.5_Missense_Mutation_p.K1269T|PTPRD_ENST00000355233.5_Missense_Mutation_p.K880T|PTPRD_ENST00000486161.1_Missense_Mutation_p.K880T|PTPRD_ENST00000397617.3_Missense_Mutation_p.K870T|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1291T|PTPRD_ENST00000356435.5_Missense_Mutation_p.K1291T|PTPRD_ENST00000397606.3_Missense_Mutation_p.K870T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1291					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACCTACCTTTTATAAAGAAG	0.398										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3871-3873)aAa>aCa		protein tyrosine phosphatase, receptor type, D							110.0	104.0	106.0					9																	8460414		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460414T>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3872A>C	9.37:g.8460414T>G	ENSP00000370593:p.Lys1291Thr	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.K1291T|PTPRD_ENST00000355233.5_Missense_Mutation_p.K880T|PTPRD_ENST00000397606.3_Missense_Mutation_p.K870T|PTPRD_ENST00000397617.3_Missense_Mutation_p.K870T|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1291T|PTPRD_ENST00000397611.3_Missense_Mutation_p.K877T|PTPRD_ENST00000360074.4_Missense_Mutation_p.K1278T|PTPRD_ENST00000537002.1_Missense_Mutation_p.K877T|PTPRD_ENST00000358503.5_Missense_Mutation_p.K1269T|PTPRD_ENST00000486161.1_Missense_Mutation_p.K880T	p.K1291T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	30	4415	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1291					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3872A>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439403	0.83885	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.55930	0.53;0.53;0.57;0.62;0.72;0.82;0.59;0.49;0.53;0.71;0.82	5.76	5.76	0.90799	.	0.136357	0.64402	D	0.000008	T	0.74207	0.3686	M	0.83953	2.67	0.58432	D	0.999992	D;D;D;D;D;D;B;P;P	0.65815	0.981;0.981;0.981;0.981;0.995;0.989;0.029;0.469;0.469	D;D;D;D;D;D;B;B;B	0.70487	0.932;0.932;0.932;0.932;0.948;0.969;0.033;0.285;0.347	T	0.77186	-0.2680	9	.	.	.	.	15.7412	0.77899	0.0:0.0:0.0:1.0	.	870;875;880;880;877;877;1278;1291;1291	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1291;1291;1278;1269;880;870;877;877;762;1291;880;870	ENSP00000370593:K1291T;ENSP00000348812:K1291T;ENSP00000353187:K1278T;ENSP00000351293:K1269T;ENSP00000347373:K880T;ENSP00000380741:K870T;ENSP00000380735:K877T;ENSP00000440515:K877T;ENSP00000438164:K1291T;ENSP00000417093:K880T;ENSP00000380731:K870T	.	K	-	2	0	PTPRD	8450414	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.673000	0.83973	2.185000	0.69588	0.460000	0.39030	AAA		0.398	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			30	47	0	0	0	1	0	30	47				
FXR2	9513	broad.mit.edu	37	17	7495189	7495189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7495189C>T	ENST00000250113.7	-	17	2315	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	661						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCCAAGGGGGCGGAGAGCTCC	0.557																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1981-1983)Gcc>Acc		fragile X mental retardation, autosomal homolog 2							39.0	40.0	39.0					17																	7495189		1886	4097	5983	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495189C>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1981G>A	17.37:g.7495189C>T	ENSP00000250113:p.Ala661Thr					FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron	p.A661T	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	17	2315	-			661					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1981G>A	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699926	0.30142	.	.	ENSG00000129245	ENST00000250113	T	0.37411	1.2	5.68	3.56	0.40772	.	0.273612	0.36778	N	0.002405	T	0.16128	0.0388	N	0.08118	0	0.29881	N	0.826047	B	0.23806	0.091	B	0.15052	0.012	T	0.09662	-1.0664	10	0.26408	T	0.33	-8.193	7.3756	0.26827	0.0:0.7428:0.1681:0.0891	.	661	P51116	FXR2_HUMAN	T	661	ENSP00000250113:A661T	ENSP00000250113:A661T	A	-	1	0	FXR2	7435914	0.428000	0.25522	0.849000	0.33467	0.974000	0.67602	0.582000	0.23834	1.400000	0.46741	0.561000	0.74099	GCC		0.557	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			6	27	0	0	0	1	0	6	27				
CPSF1	29894	broad.mit.edu	37	8	145626853	145626853	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145626853C>A	ENST00000349769.3	-	4	371	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	93					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGAGCAGGGCATCCCGCTTG	0.637																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(277-279)Gcc>Tcc		cleavage and polyadenylation specific factor 1, 160kDa							96.0	72.0	80.0					8																	145626853		2202	4300	6502	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626853C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.277G>T	8.37:g.145626853C>A	ENSP00000339353:p.Ala93Ser						p.A93S	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		4	371	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		93					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.277G>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818401	0.32145	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.39787	1.06	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	N	0.16098	0.37	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.15052	0.007;0.012;0.011	T	0.06481	-1.0824	10	0.14252	T	0.57	-4.6477	13.8526	0.63506	0.0:1.0:0.0:0.0	.	93;15;93	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	93	ENSP00000339353:A93S	ENSP00000339353:A93S	A	-	1	0	CPSF1	145597661	1.000000	0.71417	0.972000	0.41901	0.960000	0.62799	6.940000	0.75917	2.123000	0.65237	0.561000	0.74099	GCC		0.637	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		7	15	1	0	0.00307968	1	0.00325696	7	15				
FRMD6	122786	broad.mit.edu	37	14	52188733	52188733	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188733G>A	ENST00000344768.5	+	12	1623	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000356218.4_Missense_Mutation_p.S468N|FRMD6_ENST00000395718.2_Missense_Mutation_p.S468N|FRMD6_ENST00000554167.1_Missense_Mutation_p.S399N|FRMD6_ENST00000553556.1_Missense_Mutation_p.S118N			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	476					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTGGAAGTCAGCCCAGACATG	0.468																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1402-1404)aGc>aAc		FERM domain containing 6							120.0	113.0	115.0					14																	52188733		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188733G>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1427G>A	14.37:g.52188733G>A	ENSP00000343899:p.Ser476Asn					FRMD6_ENST00000344768.5_Missense_Mutation_p.S476N|FRMD6_ENST00000554167.1_Missense_Mutation_p.S399N|FRMD6_ENST00000553556.1_Missense_Mutation_p.S118N|FRMD6_ENST00000356218.4_Missense_Mutation_p.S468N	p.S468N	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			12	1688	+	all_epithelial(31;0.0163)|Breast(41;0.089)		476					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1403G>A	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115379	0.56505	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555703;ENST00000553556	T;T;T;T	0.77358	-1.09;-1.09;-0.86;-0.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	L	0.29908	0.895	0.46437	D	0.999046	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.006;0.003;0.004	T	0.63075	-0.6718	10	0.37606	T	0.19	.	19.7209	0.96143	0.0:0.0:1.0:0.0	.	399;476;468	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	N	468;468;476;399;116;118	ENSP00000348550:S468N;ENSP00000379068:S468N;ENSP00000343899:S476N;ENSP00000451977:S399N	ENSP00000343899:S476N	S	+	2	0	FRMD6	51258483	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	2.659000	0.46741	2.835000	0.97688	0.650000	0.86243	AGC		0.468	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		18	71	0	0	0	1	0	18	71				
DHX8	1659	broad.mit.edu	37	17	41571057	41571057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41571057G>A	ENST00000262415.3	+	8	1087	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	DHX8_ENST00000540306.1_Missense_Mutation_p.D339N	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	339					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTAGGATGTGGATCAAGAGAC	0.493																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1015-1017)Gat>Aat		DEAH (Asp-Glu-Ala-His) box polypeptide 8							213.0	210.0	211.0					17																	41571057		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41571057G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1015G>A	17.37:g.41571057G>A	ENSP00000262415:p.Asp339Asn					DHX8_ENST00000540306.1_Missense_Mutation_p.D339N	p.D339N	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	8	1087	+		Breast(137;0.00908)	339						Missense_Mutation	SNP	ENST00000262415.3	37	c.1015G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896245	0.72639	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03553	3.89;3.9	5.57	4.6	0.57074	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.147646	0.64402	N	0.000014	T	0.08582	0.0213	M	0.82193	2.58	0.58432	D	0.999998	B;P	0.36438	0.174;0.553	B;B	0.38655	0.278;0.224	T	0.01566	-1.1323	10	0.56958	D	0.05	.	9.7509	0.40475	0.1567:0.0:0.8433:0.0	.	339;339	F5H658;Q14562	.;DHX8_HUMAN	N	339	ENSP00000437886:D339N;ENSP00000262415:D339N	ENSP00000262415:D339N	D	+	1	0	DHX8	38926583	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	6.432000	0.73400	1.353000	0.45828	0.561000	0.74099	GAT		0.493	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			92	110	0	0	0	1	0	92	110				
PSKH2	85481	broad.mit.edu	37	8	87076754	87076754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87076754C>A	ENST00000276616.2	-	2	366	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCTTCCCTCTCTCTGGTTTCC	0.502																																						ENST00000276616.2																			0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(292-294)Gag>Tag		protein serine kinase H2							111.0	93.0	99.0					8																	87076754		2203	4300	6503	SO:0001587	stop_gained	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076754C>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.292G>T	8.37:g.87076754C>A	ENSP00000276616:p.Glu98*					PSKH2_ENST00000517981.1_5'UTR	p.E98*	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	366	-			98			Protein kinase.		A0AV22	Nonsense_Mutation	SNP	ENST00000276616.2	37	c.292G>T	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588349	0.28357	.	.	ENSG00000147613	ENST00000276616	.	.	.	5.5	-5.19	0.02832	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2702	0.26252	0.0:0.2762:0.4262:0.2976	.	.	.	.	X	98	.	ENSP00000276616:E98X	E	-	1	0	PSKH2	87145870	0.000000	0.05858	0.011000	0.14972	0.291000	0.27294	-0.128000	0.10531	-0.661000	0.05345	-0.282000	0.10007	GAG		0.502	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		29	61	1	0	7.38237e-10	1	9.02878e-10	29	61				
RBL1	5933	broad.mit.edu	37	20	35627269	35627269	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35627269C>A	ENST00000373664.3	-	22	3166	c.3100G>T	c.(3100-3102)Gcc>Tcc	p.A1034S		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	1034					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTATCGATGGCTATTACTCGC	0.423																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(3100-3102)Gcc>Tcc		retinoblastoma-like 1 (p107)							267.0	223.0	238.0					20																	35627269		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35627269C>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.3100G>T	20.37:g.35627269C>A	ENSP00000362768:p.Ala1034Ser						p.A1034S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			22	3166	-		Myeloproliferative disorder(115;0.00878)	1034					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.3100G>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	5.480	0.273598	0.10403	.	.	ENSG00000080839	ENST00000373664	T	0.79845	-1.31	4.94	0.426	0.16479	Rb C-terminal (1);	0.681699	0.14382	N	0.323082	T	0.60766	0.2294	L	0.31664	0.95	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.49579	-0.8925	10	0.05436	T	0.98	-0.2311	4.6339	0.12514	0.1489:0.3945:0.0:0.4567	.	1034	P28749	RBL1_HUMAN	S	1034	ENSP00000362768:A1034S	ENSP00000362768:A1034S	A	-	1	0	RBL1	35060683	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	0.875000	0.28079	0.229000	0.21039	0.591000	0.81541	GCC		0.423	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		22	74	1	0	7.87624e-14	1	1.00187e-13	22	74				
ZNF251	90987	broad.mit.edu	37	8	145947656	145947656	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947656G>A	ENST00000292562.7	-	5	1664	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CACATTCAACGCACTGGTAGG	0.517																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1387-1389)tgC>tgT		zinc finger protein 251							58.0	66.0	63.0					8																	145947656		2202	4300	6502	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947656G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1389C>T	8.37:g.145947656G>A						ZNF251_ENST00000524394.1_Intron	p.C463C	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1664	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		463					Q2M219	Silent	SNP	ENST00000292562.7	37	c.1389C>T	CCDS47944.1																																																																																				0.517	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		13	30	0	0	0	1	0	13	30				
REPS1	85021	broad.mit.edu	37	6	139269016	139269016	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139269016T>C	ENST00000450536.2	-	2	762	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000415951.2_Missense_Mutation_p.Y63C|REPS1_ENST00000367663.4_Missense_Mutation_p.Y63C|REPS1_ENST00000258062.5_Missense_Mutation_p.Y63C|REPS1_ENST00000409812.2_Missense_Mutation_p.Y63C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	63	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCTTCCAAAATAACCAAGTCT	0.338																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(187-189)tAt>tGt		RALBP1 associated Eps domain containing 1							114.0	108.0	110.0					6																	139269016		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139269016T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.188A>G	6.37:g.139269016T>C	ENSP00000392065:p.Tyr63Cys					REPS1_ENST00000409812.2_Missense_Mutation_p.Y63C|REPS1_ENST00000367663.4_Missense_Mutation_p.Y63C|REPS1_ENST00000415951.2_Missense_Mutation_p.Y63C|REPS1_ENST00000258062.5_Missense_Mutation_p.Y63C	p.Y63C			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	2	762	-			63			EH 1.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.188A>G		.	.	.	.	.	.	.	.	.	.	T	29.3	4.997097	0.93167	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.35236	1.32;1.33;1.33;1.33;1.32;1.32	5.67	5.67	0.87782	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.060679	0.64402	D	0.000002	T	0.44074	0.1276	L	0.61218	1.895	0.54753	D	0.999982	D;D;D;D	0.71674	0.996;0.996;0.998;0.993	P;P;P;P	0.59288	0.855;0.855;0.832;0.72	T	0.43940	-0.9360	10	0.59425	D	0.04	-13.0617	14.7855	0.69800	0.0:0.0:0.0:1.0	.	63;63;63;63	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	63;63;49;63;63;63;11	ENSP00000392065:Y63C;ENSP00000356635:Y63C;ENSP00000434251:Y49C;ENSP00000386699:Y63C;ENSP00000258062:Y63C;ENSP00000397941:Y63C	ENSP00000258062:Y63C	Y	-	2	0	REPS1	139310709	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.288000	0.76882	0.533000	0.62120	TAT		0.338	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			19	30	0	0	0	1	0	19	30				
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1282-1284)Gcc>Acc		kelch-like family member 10							50.0	50.0	50.0					17																	40001975		2110	4230	6340	SO:0001583	missense	317719					cytoplasm		g.chr17:40001975G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1282G>A	17.37:g.40001975G>A	ENSP00000293303:p.Ala428Thr						p.A428T	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1435	+		Breast(137;0.000162)	428					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1282G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248200	0.80024	.	.	ENSG00000161594	ENST00000293303	T	0.80214	-1.35	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.202592	0.50627	D	0.000103	D	0.88108	0.6348	M	0.71296	2.17	0.51767	D	0.999933	D;D	0.71674	0.989;0.998	P;P	0.60415	0.627;0.874	D	0.86624	0.1881	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	422;428	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	428	ENSP00000293303:A428T	.	A	+	1	0	KLHL10	37255501	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	3.880000	0.56145	2.885000	0.99019	0.655000	0.94253	GCC		0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		17	28	0	0	0	1	0	17	28				
MAST4	375449	broad.mit.edu	37	5	66459617	66459617	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66459617T>C	ENST00000403625.2	+	29	4905	c.4610T>C	c.(4609-4611)gTg>gCg	p.V1537A	MAST4_ENST00000404260.3_Missense_Mutation_p.V1540A|MAST4_ENST00000405643.1_Missense_Mutation_p.V1358A|MAST4_ENST00000261569.7_Missense_Mutation_p.V1343A|MAST4_ENST00000403666.1_Missense_Mutation_p.V1348A	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1540						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCAAGGTGGTGGTGAAGAAA	0.572																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(4618-4620)gTg>gCg		microtubule associated serine/threonine kinase family member 4							19.0	22.0	21.0					5																	66459617		2002	4171	6173	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459617T>C	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4610T>C	5.37:g.66459617T>C	ENSP00000385727:p.Val1537Ala					MAST4_ENST00000403625.2_Missense_Mutation_p.V1537A|MAST4_ENST00000403666.1_Missense_Mutation_p.V1348A|MAST4_ENST00000405643.1_Missense_Mutation_p.V1358A|MAST4_ENST00000261569.7_Missense_Mutation_p.V1343A	p.V1540A			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4927	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1540					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.4619T>C	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729787	0.48833	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.70749	-0.49;-0.49;-0.51;-0.51;-0.48	5.25	4.1	0.47936	.	0.419373	0.22207	N	0.063160	T	0.65491	0.2696	M	0.72118	2.19	0.27130	N	0.961924	B;P	0.37207	0.451;0.587	B;B	0.36464	0.112;0.225	T	0.55379	-0.8150	10	0.12766	T	0.61	-10.4736	10.9941	0.47565	0.0:0.0725:0.0:0.9275	.	1540;1348	O15021;O15021-3	MAST4_HUMAN;.	A	1540;1537;1348;1358;1358;1343	ENSP00000385048:V1540A;ENSP00000385727:V1537A;ENSP00000384313:V1348A;ENSP00000384099:V1358A;ENSP00000261569:V1343A	ENSP00000261569:V1343A	V	+	2	0	MAST4	66495373	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.032000	0.57274	1.038000	0.40049	0.533000	0.62120	GTG		0.572	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	5	0	0	0	1	0	6	5				
RABGAP1	23637	broad.mit.edu	37	9	125751629	125751629	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125751629T>G	ENST00000373647.4	+	5	778	c.644T>G	c.(643-645)aTc>aGc	p.I215S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	215	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTACAAAATCCTCTTCTGT	0.393																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(643-645)aTc>aGc		RAB GTPase activating protein 1							120.0	121.0	121.0					9																	125751629		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125751629T>G	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.644T>G	9.37:g.125751629T>G	ENSP00000362751:p.Ile215Ser						p.I215S	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			5	778	+			215			PID.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.644T>G	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582214	0.86748	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000426918	T	0.42513	0.97	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.139500	0.51477	D	0.000082	T	0.65069	0.2656	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.76575	0.988;0.883	T	0.69658	-0.5086	10	0.87932	D	0	-13.079	15.5057	0.75739	0.0:0.0:0.0:1.0	.	215;215	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	S	215;215;46	ENSP00000362751:I215S	ENSP00000324973:I215S	I	+	2	0	RABGAP1	124791450	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.031000	0.88826	2.064000	0.61679	0.397000	0.26171	ATC		0.393	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		12	102	0	0	0	1	0	12	102				
MPP4	58538	broad.mit.edu	37	2	202549852	202549852	+	Missense_Mutation	SNP	C	C	T	rs199920224		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202549852C>T	ENST00000409474.3	-	7	716	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MPP4_ENST00000359962.5_Missense_Mutation_p.R170H|MPP4_ENST00000447335.2_Missense_Mutation_p.R170H|MPP4_ENST00000396886.3_Missense_Mutation_p.R126H|MPP4_ENST00000428900.2_Missense_Mutation_p.R170H|MPP4_ENST00000315506.7_Missense_Mutation_p.R170H|MPP4_ENST00000409143.1_Missense_Mutation_p.R143H	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	170	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						CATCTCGTGGCGCTTGATGGT	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14936	0.0		0.0	False		,,,				2504	0.0					ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(508-510)cGc>cAc		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							46.0	46.0	46.0					2																	202549852		2021	4187	6208	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202549852C>T	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.509G>A	2.37:g.202549852C>T	ENSP00000387278:p.Arg170His					MPP4_ENST00000428900.2_Missense_Mutation_p.R170H|MPP4_ENST00000396886.3_Missense_Mutation_p.R126H|MPP4_ENST00000359962.5_Missense_Mutation_p.R170H|MPP4_ENST00000315506.7_Missense_Mutation_p.R170H|MPP4_ENST00000409143.1_Missense_Mutation_p.R143H|MPP4_ENST00000447335.2_Missense_Mutation_p.R170H	p.R170H	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN			7	716	-			170			PDZ.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.509G>A	CCDS46491.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	33	5.197560	0.94960	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.97	5.97	0.96955	PDZ/DHR/GLGF (4);	0.053617	0.64402	D	0.000001	T	0.60689	0.2288	M	0.81239	2.535	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.83275	0.99;0.987;0.996;0.994;0.99;0.996;0.992;0.996;0.993;0.982	T	0.62039	-0.6938	10	0.66056	D	0.02	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	143;126;170;170;170;170;126;183;170;126	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	H	170;170;126;170;126;99;170;143;170	ENSP00000387278:R170H;ENSP00000319363:R170H;ENSP00000353047:R170H;ENSP00000416781:R170H;ENSP00000387293:R143H;ENSP00000406160:R170H	ENSP00000319363:R170H	R	-	2	0	MPP4	202258097	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.425000	0.66470	2.836000	0.97738	0.655000	0.94253	CGC		0.547	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			4	11	0	0	0	1	0	4	11				
SLC35F2	54733	broad.mit.edu	37	11	107673881	107673881	+	Splice_Site	SNP	G	G	A	rs372483128		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107673881G>A	ENST00000525815.1	-	7	1205	c.785C>T	c.(784-786)gCc>gTc	p.A262V	SLC35F2_ENST00000375682.4_Splice_Site_p.A215V|SLC35F2_ENST00000429869.1_Splice_Site_p.A262V|SLC35F2_ENST00000265836.7_Splice_Site_p.A114V|SLC35F2_ENST00000525071.1_Splice_Site_p.A262V	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	262					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAACAGCAGGGCTGTGGAAAA	0.428																																						ENST00000525071.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.e10-1		solute carrier family 35, member F2		G	VAL/ALA	0,3878		0,0,1939	49.0	45.0	46.0		785	3.2	1.0	11		46	1,8253		0,1,4126	no	missense-near-splice	SLC35F2	NM_017515.4	64	0,1,6065	AA,AG,GG		0.0121,0.0,0.0082	benign	262/375	107673881	1,12131	1939	4127	6066	SO:0001630	splice_region_variant	54733				transport	integral to membrane		g.chr11:107673881G>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.785-1C>T	11.37:g.107673881G>A						SLC35F2_ENST00000375682.4_Splice_Site_p.A215_splice|SLC35F2_ENST00000265836.7_Splice_Site_p.A114_splice|SLC35F2_ENST00000525815.1_Splice_Site_p.A262_splice|SLC35F2_ENST00000429869.1_Splice_Site_p.A262_splice	p.A262_splice			Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	10	1373	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	262					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Splice_Site	SNP	ENST00000525815.1	37	c.784_splice	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	G	7.438	0.640168	0.14386	0.0	1.21E-4	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.13	3.25	0.37280	.	0.304752	0.34268	N	0.004105	T	0.46908	0.1417	N	0.19112	0.55	0.38747	D	0.954012	B	0.12630	0.006	B	0.17979	0.02	T	0.41645	-0.9497	10	0.37606	T	0.19	.	6.8242	0.23874	0.155:0.145:0.7001:0.0	.	262	Q8IXU6	S35F2_HUMAN	V	262;262;114;215;262	ENSP00000436785:A262V;ENSP00000265836:A114V;ENSP00000364834:A215V;ENSP00000393571:A262V	ENSP00000265836:A114V	A	-	2	0	SLC35F2	107179091	0.963000	0.33076	0.987000	0.45799	0.449000	0.32228	1.784000	0.38674	1.168000	0.42723	0.460000	0.39030	GCC		0.428	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515	Missense_Mutation	6	19	0	0	0	1	0	6	19				
PRRC2A	7916	broad.mit.edu	37	6	31593584	31593584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31593584C>T	ENST00000376033.2	+	8	1009	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F	SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Missense_Mutation_p.L259F|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	259	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L259I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCCCATATCTCCCGTTCCC	0.562																																						ENST00000376033.2																			1	Substitution - Missense(1)	p.L259I(1)	large_intestine(1)	breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(775-777)Ctc>Ttc		proline-rich coiled-coil 2A							89.0	76.0	81.0					6																	31593584		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31593584C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.775C>T	6.37:g.31593584C>T	ENSP00000365201:p.Leu259Phe					PRRC2A_ENST00000376007.4_Missense_Mutation_p.L259F|PRRC2A_ENST00000469577.1_3'UTR	p.L259F	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			8	1009	+			259			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.775C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803355	0.31869	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01725	4.67;4.67	4.98	4.98	0.66077	.	0.000000	0.45126	D	0.000381	T	0.02230	0.0069	N	0.25201	0.72	0.49051	D	0.999748	D	0.89917	1.0	D	0.71870	0.975	T	0.59568	-0.7430	10	0.87932	D	0	-19.3667	10.726	0.46068	0.0:0.912:0.0:0.088	.	259	P48634	PRC2A_HUMAN	F	259	ENSP00000365175:L259F;ENSP00000365201:L259F	ENSP00000365175:L259F	L	+	1	0	PRRC2A	31701563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.852000	0.48310	2.605000	0.88082	0.655000	0.94253	CTC		0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		15	33	0	0	0	1	0	15	33				
WDR49	151790	broad.mit.edu	37	3	167248987	167248987	+	Missense_Mutation	SNP	G	G	A	rs368438338		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167248987G>A	ENST00000308378.3	-	9	1383	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	WDR49_ENST00000476376.1_Missense_Mutation_p.R185C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R424C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	360										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCAAAGTTGCGGACTCCCGTG	0.438																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1078-1080)Cgc>Tgc		WD repeat domain 49		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	85.0	89.0	88.0		1078	-8.1	0.0	3		88	2,8598	2.2+/-6.3	0,2,4298	no	missense	WDR49	NM_178824.3	180	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	360/698	167248987	4,13002	2203	4300	6503	SO:0001583	missense	151790							g.chr3:167248987G>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1078C>T	3.37:g.167248987G>A	ENSP00000311343:p.Arg360Cys					WDR49_ENST00000476376.1_Missense_Mutation_p.R185C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R424C	p.R360C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			9	1383	-			360					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1078C>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551955	0.27739	4.54E-4	2.33E-4	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.54866	0.55;1.8;0.97	5.04	-8.1	0.01086	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	2.593630	0.00786	N	0.001318	T	0.21801	0.0525	N	0.02916	-0.46	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.0	T	0.10706	-1.0618	10	0.39692	T	0.17	.	2.1987	0.03917	0.1881:0.104:0.411:0.2969	.	424;360	E7EQK3;Q8IV35	.;WDR49_HUMAN	C	360;185;424	ENSP00000311343:R360C;ENSP00000420508:R185C;ENSP00000410863:R424C	ENSP00000311343:R360C	R	-	1	0	WDR49	168731681	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.281000	0.08456	-1.083000	0.03097	-0.157000	0.13467	CGC		0.438	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		4	68	0	0	0	1	0	4	68				
ISYNA1	51477	broad.mit.edu	37	19	18546085	18546085	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18546085T>G	ENST00000338128.8	-	10	1680	c.1463A>C	c.(1462-1464)aAc>aCc	p.N488T	ISYNA1_ENST00000317018.6_Missense_Mutation_p.N286T|ISYNA1_ENST00000457269.4_Missense_Mutation_p.N434T|ISYNA1_ENST00000578963.1_Missense_Mutation_p.N360T|ISYNA1_ENST00000545187.1_Missense_Mutation_p.N338T	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	488					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCTGAGGATGTTCTCGATGCA	0.667																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(1012-1014)aAc>aCc		inositol-3-phosphate synthase 1							38.0	43.0	42.0					19																	18546085		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18546085T>G		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1463A>C	19.37:g.18546085T>G	ENSP00000337746:p.Asn488Thr					ISYNA1_ENST00000578963.1_Missense_Mutation_p.N360T|ISYNA1_ENST00000317018.6_Missense_Mutation_p.N286T|ISYNA1_ENST00000457269.3_Missense_Mutation_p.N434T|ISYNA1_ENST00000338128.7_Missense_Mutation_p.N488T	p.N338T			Q9NPH2	INO1_HUMAN			7	1299	-			488					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.1013A>C	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076543	0.76415	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	3.71	3.71	0.42584	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	H	0.97806	4.08	0.51767	D	0.999935	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.998;1.0	D	0.89817	0.3986	9	0.87932	D	0	-30.4413	10.6377	0.45575	0.0:0.0:0.0:1.0	.	286;434;488;338	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	T	488;434;338;286	.	ENSP00000315147:N286T	N	-	2	0	ISYNA1	18407085	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.217000	0.58547	1.477000	0.48234	0.459000	0.35465	AAC		0.667	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		6	52	0	0	0	1	0	6	52				
ACVR1	90	broad.mit.edu	37	2	158630609	158630609	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158630609C>T	ENST00000263640.3	-	6	1063	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ACVR1_ENST00000409283.2_Missense_Mutation_p.E212K|ACVR1_ENST00000434821.1_Missense_Mutation_p.E212K|ACVR1_ENST00000410057.2_Missense_Mutation_p.E212K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCGACACACTCCAACAGTGTA	0.378																																						ENST00000263640.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19						c.(634-636)Gag>Aag		activin A receptor, type I	Adenosine triphosphate(DB00171)						103.0	97.0	99.0					2																	158630609		2203	4300	6503	SO:0001583	missense	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158630609C>T		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.634G>A	2.37:g.158630609C>T	ENSP00000263640:p.Glu212Lys					ACVR1_ENST00000410057.2_Missense_Mutation_p.E212K|ACVR1_ENST00000409283.2_Missense_Mutation_p.E212K|ACVR1_ENST00000434821.1_Missense_Mutation_p.E212K	p.E212K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	6	1063	-			212			Protein kinase.			Missense_Mutation	SNP	ENST00000263640.3	37	c.634G>A	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150323	0.94645	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94056	0.8095	N	0.17764	0.52	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.94225	0.7471	10	0.51188	T	0.08	.	20.179	0.98193	0.0:1.0:0.0:0.0	.	212	Q04771	ACVR1_HUMAN	K	212	ENSP00000263640:E212K;ENSP00000387273:E212K;ENSP00000405004:E212K;ENSP00000387127:E212K	ENSP00000263640:E212K	E	-	1	0	ACVR1	158338855	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.750000	0.85110	2.847000	0.97988	0.655000	0.94253	GAG		0.378	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		25	33	0	0	0	1	0	25	33				
MYO1D	4642	broad.mit.edu	37	17	31039046	31039046	+	Missense_Mutation	SNP	C	C	T	rs371286076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31039046C>T	ENST00000318217.5	-	16	2385	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	MYO1D_ENST00000394649.4_Missense_Mutation_p.R606H|MYO1D_ENST00000579584.1_Missense_Mutation_p.R694H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	694	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CATCTGGGCACGGAGTTCTTC	0.333																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2080-2082)cGt>cAt		myosin ID		C	HIS/ARG	0,4406		0,0,2203	146.0	145.0	145.0		2081	4.1	1.0	17		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO1D	NM_015194.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	694/1007	31039046	1,13005	2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31039046C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2081G>A	17.37:g.31039046C>T	ENSP00000324527:p.Arg694His					MYO1D_ENST00000579584.1_Missense_Mutation_p.R694H|MYO1D_ENST00000394649.4_Missense_Mutation_p.R606H	p.R694H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		16	2385	-			694					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2081G>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087154	0.55968	0.0	1.16E-4	ENSG00000176658	ENST00000318217	T	0.75260	-0.92	5.09	4.06	0.47325	Myosin head, motor domain (1);	0.198118	0.24601	U	0.037134	T	0.80253	0.4589	H	0.95079	3.62	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.16289	0.015;0.015	T	0.81477	-0.0915	10	0.59425	D	0.04	.	10.3363	0.43852	0.0:0.8971:0.0:0.1029	.	605;694	Q7Z3N6;O94832	.;MYO1D_HUMAN	H	694	ENSP00000324527:R694H	ENSP00000324527:R694H	R	-	2	0	MYO1D	28063159	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.618000	0.61211	2.646000	0.89796	0.655000	0.94253	CGT		0.333	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			51	76	0	0	0	1	0	51	76				
NOC3L	64318	broad.mit.edu	37	10	96112807	96112807	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96112807T>G	ENST00000371361.3	-	7	804	c.704A>C	c.(703-705)aAa>aCa	p.K235T	NOC3L_ENST00000543788.1_5'Flank|NOC3L_ENST00000371350.1_Missense_Mutation_p.K235T|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	235					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCTTTCAATTTTTTAATCTG	0.353																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(703-705)aAa>aCa		nucleolar complex associated 3 homolog (S. cerevisiae)							66.0	70.0	68.0					10																	96112807		2203	4299	6502	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96112807T>G	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.704A>C	10.37:g.96112807T>G	ENSP00000360412:p.Lys235Thr					NOC3L_ENST00000371350.1_Missense_Mutation_p.K235T|NOC3L_ENST00000463649.1_5'UTR	p.K235T	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			7	804	-		Colorectal(252;0.0897)	235					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.704A>C	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.498190	0.64186	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.12255	2.71;2.7	4.93	4.93	0.64822	Nucleolar complex-associated (1);	0.106321	0.64402	D	0.000006	T	0.19886	0.0478	L	0.58969	1.84	0.45205	D	0.998215	P	0.50528	0.936	P	0.48454	0.578	T	0.05517	-1.0880	10	0.14252	T	0.57	-1.8315	14.5981	0.68422	0.0:0.0:0.0:1.0	.	235	Q8WTT2	NOC3L_HUMAN	T	235	ENSP00000360412:K235T;ENSP00000360401:K235T	ENSP00000360401:K235T	K	-	2	0	NOC3L	96102797	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.845000	0.69437	1.844000	0.53588	0.383000	0.25322	AAA		0.353	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		10	98	0	0	0	1	0	10	98				
PPARGC1A	10891	broad.mit.edu	37	4	23886363	23886363	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23886363G>T	ENST00000264867.2	-	2	354				PPARGC1A_ENST00000507380.1_Silent_p.S82S|PPARGC1A_ENST00000509702.1_5'Flank	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha						androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTTTCCAAAGGATGTCCTTA	0.383																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000507380.1																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(244-246)tcC>tcA		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							98.0	92.0	94.0					4																	23886363		2203	4300	6503	SO:0001627	intron_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23886363G>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.234+11C>A	4.37:g.23886363G>T						PPARGC1A_ENST00000264867.2_Intron	p.S82S			Q9UBK2	PRGC1_HUMAN			2	323	-		Breast(46;0.0503)	0					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.246C>A	CCDS3429.1																																																																																				0.383	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		5	53	1	0	0.0215528	1	0.0221649	5	53				
RNF219	79596	broad.mit.edu	37	13	79219113	79219113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79219113C>T	ENST00000282003.6	-	2	150	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	31							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTGTTGATGCATATGACAGG	0.378																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(91-93)tGc>tAc		ring finger protein 219							136.0	120.0	126.0					13																	79219113		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79219113C>T	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.92G>A	13.37:g.79219113C>T	ENSP00000282003:p.Cys31Tyr						p.C31Y	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	2	150	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	31					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.92G>A	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523651	0.85600	.	.	ENSG00000152193	ENST00000282003	T	0.42131	0.98	5.66	5.66	0.87406	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	0.63117	0.2484	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63928	-0.6526	10	0.87932	D	0	-7.542	19.7324	0.96188	0.0:1.0:0.0:0.0	.	31	Q5W0B1	RN219_HUMAN	Y	31	ENSP00000282003:C31Y	ENSP00000282003:C31Y	C	-	2	0	RNF219	78117114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.294000	0.78760	2.663000	0.90544	0.655000	0.94253	TGC		0.378	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		26	44	0	0	0	1	0	26	44				
PCDHA13	56136	broad.mit.edu	37	5	140261984	140261984	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140261984T>C	ENST00000289272.2	+	1	131	c.131T>C	c.(130-132)tTc>tCc	p.F44S	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F44S|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCACCTTCGTGGGCCGC	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(130-132)tTc>tCc									62.0	70.0	67.0					5																	140261984		2203	4300	6503	SO:0001583	missense	0							g.chr5:140261984T>C	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.131T>C	5.37:g.140261984T>C	ENSP00000289272:p.Phe44Ser					PCDHA13_ENST00000409494.1_Missense_Mutation_p.F44S|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.F44S	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	131	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.131T>C	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816945	0.50633	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.30448	1.53;1.53	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.64416	0.2596	M	0.91140	3.18	0.29154	N	0.878173	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.74023	0.965;0.982;0.914	T	0.68131	-0.5490	9	0.72032	D	0.01	.	15.4067	0.74884	0.0:0.0:0.0:1.0	.	44;44;44	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	44	ENSP00000386821:F44S;ENSP00000289272:F44S	ENSP00000289272:F44S	F	+	2	0	PCDHA13	140242168	0.008000	0.16893	1.000000	0.80357	0.363000	0.29612	1.767000	0.38501	2.118000	0.64928	0.459000	0.35465	TTC		0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	112	0	0	0	1	0	5	112				
TSC2	7249	broad.mit.edu	37	16	2094713	2094713	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2094713G>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000562951.1_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.A156V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGCCCCGCGCCCGCAGTCG	0.642			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"""E, O"""					0				lung(1)	1						c.(466-468)gCg>gTg	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							45.0	35.0	39.0					16																	2094713		2197	4297	6494	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2094713G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2094713G>A	Exception_encountered						p.A156V	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			3	485	-			156					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.467C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120132	0.37436	.	.	ENSG00000065057	ENST00000219066	D	0.86865	-2.18	5.44	3.27	0.37495	HhH-GPD domain (2);DNA glycosylase (2);	0.492803	0.20963	N	0.082536	D	0.85448	0.5699	M	0.88181	2.935	0.09310	N	1	B;B	0.29936	0.262;0.262	B;B	0.25405	0.06;0.06	T	0.76214	-0.3041	10	0.34782	T	0.22	-13.851	4.9055	0.13797	0.0828:0.1067:0.5665:0.244	.	156;156	E5KTI5;P78549	.;NTHL1_HUMAN	V	156	ENSP00000219066:A156V	ENSP00000219066:A156V	A	-	2	0	NTHL1	2034714	0.957000	0.32711	0.901000	0.35422	0.932000	0.56968	2.873000	0.48475	1.300000	0.44818	0.561000	0.74099	GCG		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		7	11	0	0	0	1	0	7	11				
SERPINA3	12	broad.mit.edu	37	14	95088767	95088767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95088767C>T	ENST00000467132.1	+	4	2155	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SERPINA3_ENST00000393078.3_Missense_Mutation_p.A336V|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A118V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A336V|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	336					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATTGAGGAAGCCTTCACCAGC	0.502																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(1081-1083)gCc>gTc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							101.0	92.0	95.0					14																	95088767		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95088767C>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1007C>T	14.37:g.95088767C>T	ENSP00000450540:p.Ala336Val					SERPINA3_ENST00000482740.1_Missense_Mutation_p.A118V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A336V|SERPINA3_ENST00000467132.1_Missense_Mutation_p.A336V|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A336V	p.A361V			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	7	1970	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	336	AVL -> VVS (in Ref. 1; AAA51543).				B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.1082C>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	1.237	-0.622336	0.03636	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.84	3.69	0.42338	Serpin domain (3);	0.108804	0.38778	N	0.001564	T	0.58409	0.2120	N	0.01649	-0.78	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.10450	0.005;0.004	T	0.50268	-0.8848	10	0.02654	T	1	.	9.3788	0.38299	0.0:0.0856:0.0:0.9144	.	336;361	P01011;G3V5I3	AACT_HUMAN;.	V	361;336;336;336;118	ENSP00000452367:A361V;ENSP00000376793:A336V;ENSP00000376795:A336V;ENSP00000450540:A336V;ENSP00000451119:A118V	ENSP00000376793:A336V	A	+	2	0	SERPINA3	94158520	0.332000	0.24722	0.535000	0.28026	0.010000	0.07245	2.210000	0.42816	0.876000	0.35872	-0.487000	0.04747	GCC		0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		17	39	0	0	0	1	0	17	39				
LRRK2	120892	broad.mit.edu	37	12	40722196	40722196	+	Silent	SNP	C	C	A	rs200436043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40722196C>A	ENST00000298910.7	+	39	5749	c.5691C>A	c.(5689-5691)gcC>gcA	p.A1897A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1897	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCGAGCAGCCTATGAAGGAG	0.303																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5689-5691)gcC>gcA		leucine-rich repeat kinase 2							69.0	72.0	71.0					12																	40722196		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40722196C>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5691C>A	12.37:g.40722196C>A							p.A1897A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			39	5749	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1897			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.5691C>A	CCDS31774.1																																																																																				0.303	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		16	24	1	0	4.96729e-08	1	5.9048e-08	16	24				
UHRF1BP1	54887	broad.mit.edu	37	6	34825955	34825955	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34825955C>A	ENST00000192788.5	+	14	1993	c.1822C>A	c.(1822-1824)Ctt>Att	p.L608I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L608I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	608							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCCCAGGCCCTTGTCTTCTC	0.498																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1822-1824)Ctt>Att		UHRF1 binding protein 1							118.0	115.0	116.0					6																	34825955		2006	4179	6185	SO:0001583	missense	54887							g.chr6:34825955C>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1822C>A	6.37:g.34825955C>A	ENSP00000192788:p.Leu608Ile					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L608I	p.L608I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	1993	+			608					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1822C>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002480	0.35320	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.13657	2.57;2.57	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	L	0.35723	1.085	0.58432	D	0.999991	P	0.49862	0.929	P	0.51918	0.684	T	0.09662	-1.0664	10	0.26408	T	0.33	-14.9083	14.8386	0.70206	0.1437:0.8563:0.0:0.0	.	608	Q6BDS2	URFB1_HUMAN	I	608	ENSP00000192788:L608I;ENSP00000400628:L608I	ENSP00000192788:L608I	L	+	1	0	UHRF1BP1	34933933	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.497000	0.53295	2.722000	0.93159	0.655000	0.94253	CTT		0.498	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		6	61	1	0	1	1	1	6	61				
NPC1L1	29881	broad.mit.edu	37	7	44579468	44579468	+	Silent	SNP	G	G	A	rs114482489	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44579468G>A	ENST00000289547.4	-	2	583	c.528C>T	c.(526-528)cgC>cgT	p.R176R	NPC1L1_ENST00000423141.1_Silent_p.R176R|NPC1L1_ENST00000381160.3_Silent_p.R176R|NPC1L1_ENST00000546276.1_Silent_p.R176R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	176					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCAGGGACGCGCACACGGC	0.622													G|||	4	0.000798722	0.0	0.0	5008	,	,		20113	0.004		0.0	False		,,,				2504	0.0					ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(526-528)cgC>cgT		NPC1-like 1	Ezetimibe(DB00973)						56.0	50.0	52.0					7																	44579468		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579468G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.528C>T	7.37:g.44579468G>A						NPC1L1_ENST00000381160.3_Silent_p.R176R|NPC1L1_ENST00000423141.1_Silent_p.R176R|NPC1L1_ENST00000546276.1_Silent_p.R176R	p.R176R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	583	-			176					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.528C>T	CCDS5491.1																																																																																				0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		18	45	0	0	0	1	0	18	45				
SZT2	23334	broad.mit.edu	37	1	43906238	43906238	+	Missense_Mutation	SNP	G	G	A	rs146294336		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43906238G>A	ENST00000562955.1	+	51	7154	c.7154G>A	c.(7153-7155)cGt>cAt	p.R2385H	SZT2_ENST00000372442.1_Missense_Mutation_p.R1543H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2442					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCGGGCCGGCGTAGCTTCTGG	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7153-7155)cGt>cAt		seizure threshold 2 homolog (mouse)							71.0	67.0	68.0					1																	43906238		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906238G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7154G>A	1.37:g.43906238G>A	ENSP00000457168:p.Arg2385His					SZT2_ENST00000372442.1_Missense_Mutation_p.R1543H	p.R2385H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			51	7154	+			2442					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7154G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760760	0.69763	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	L	0.43152	1.355	0.34418	D	0.697103	D	0.89917	1.0	D	0.87578	0.998	T	0.74106	-0.3772	9	0.38643	T	0.18	.	18.7731	0.91900	0.0:0.0:1.0:0.0	.	2385	Q5T011-5	.	H	1543	.	ENSP00000361519:R1543H	R	+	2	0	SZT2	43678825	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	8.355000	0.90083	2.675000	0.91044	0.655000	0.94253	CGT		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		26	39	0	0	0	1	0	26	39				
CBLB	868	broad.mit.edu	37	3	105389183	105389183	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105389183A>G	ENST00000264122.4	-	18	2904	c.2583T>C	c.(2581-2583)gaT>gaC	p.D861D	CBLB_ENST00000394027.3_Silent_p.D839D|CBLB_ENST00000407712.1_Silent_p.D76D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	861	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CACTTGCTAGATCAACAAAGG	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(2581-2583)gaT>gaC		Cbl proto-oncogene B, E3 ubiquitin protein ligase							97.0	87.0	90.0					3																	105389183		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105389183A>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2583T>C	3.37:g.105389183A>G						CBLB_ENST00000394027.3_Silent_p.D839D|CBLB_ENST00000407712.1_Silent_p.D76D	p.D861D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			18	2904	-			861			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.2583T>C	CCDS2948.1																																																																																				0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		16	27	0	0	0	1	0	16	27				
SEC24C	9632	broad.mit.edu	37	10	75525908	75525908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525908G>T	ENST00000339365.2	+	12	1709	c.1547G>T	c.(1546-1548)aGg>aTg	p.R516M	SEC24C_ENST00000411652.2_Missense_Mutation_p.R397M|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.R516M	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	516					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AATGCCATCAGGACTGGTCTT	0.473																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1546-1548)aGg>aTg		SEC24 family member C							129.0	129.0	129.0					10																	75525908		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525908G>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1547G>T	10.37:g.75525908G>T	ENSP00000343405:p.Arg516Met					SEC24C_ENST00000411652.2_Missense_Mutation_p.R397M|SEC24C_ENST00000345254.4_Missense_Mutation_p.R516M|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron	p.R516M	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			12	1709	+	Prostate(51;0.0112)		516					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.1547G>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643440	0.67244	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.48201	0.82;0.82;0.82	5.73	4.82	0.62117	Sec23/Sec24, trunk domain (1);	0.041842	0.85682	D	0.000000	T	0.49575	0.1565	L	0.60067	1.865	0.80722	D	1	P;P;P	0.50066	0.851;0.915;0.931	B;P;P	0.48982	0.202;0.461;0.597	T	0.52631	-0.8550	10	0.72032	D	0.01	-14.341	8.3152	0.32095	0.2136:0.0:0.7864:0.0	.	397;516;516	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	M	516;516;397	ENSP00000321845:R516M;ENSP00000343405:R516M;ENSP00000402913:R397M	ENSP00000343405:R516M	R	+	2	0	SEC24C	75195914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.224000	0.72265	2.709000	0.92574	0.563000	0.77884	AGG		0.473	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			16	90	1	0	3.52763e-06	1	4.04633e-06	16	90				
ABHD17B	51104	broad.mit.edu	37	9	74489670	74489670	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74489670G>A	ENST00000333421.6	-	2	438	c.327C>T	c.(325-327)agC>agT	p.S109S	ABHD17B_ENST00000377041.2_Silent_p.S109S	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	109						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CTATGTAAAAGCTGCTCATTT	0.393																																						ENST00000333421.6																			0											c.(325-327)agC>agT		abhydrolase domain containing 17B							152.0	143.0	146.0					9																	74489670		2203	4300	6503	SO:0001819	synonymous_variant	51104							g.chr9:74489670G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.327C>T	9.37:g.74489670G>A						ABHD17B_ENST00000377041.2_Silent_p.S109S	p.S109S	NM_001025780.1	NP_001020951.1					2	438	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Silent	SNP	ENST00000333421.6	37	c.327C>T	CCDS35043.1																																																																																				0.393	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		13	96	0	0	0	1	0	13	96				
KIF13B	23303	broad.mit.edu	37	8	29006204	29006204	+	Missense_Mutation	SNP	G	G	T	rs536296566		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29006204G>T	ENST00000524189.1	-	16	1741	c.1703C>A	c.(1702-1704)tCt>tAt	p.S568Y	KIF13B_ENST00000521515.1_Missense_Mutation_p.S568Y	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	568					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1702-1704)tCt>tAt		kinesin family member 13B							174.0	169.0	170.0					8																	29006204		1941	4153	6094	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29006204G>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1703C>A	8.37:g.29006204G>T	ENSP00000427900:p.Ser568Tyr					KIF13B_ENST00000521515.1_Missense_Mutation_p.S568Y	p.S568Y	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	16	1741	-		Ovarian(32;0.000536)	568					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1703C>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	7.046	0.563417	0.13498	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.77098	-1.07;-1.02	5.01	3.16	0.36331	.	0.691433	0.15018	N	0.285175	T	0.66742	0.2820	L	0.36672	1.1	0.09310	N	1	P;P;P	0.46277	0.483;0.802;0.875	B;B;B	0.43082	0.084;0.312;0.407	T	0.60063	-0.7336	10	0.56958	D	0.05	.	4.7305	0.12962	0.1878:0.0:0.6176:0.1946	.	554;568;568	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Y	568	ENSP00000427900:S568Y;ENSP00000429201:S568Y	ENSP00000429201:S568Y	S	-	2	0	KIF13B	29062123	0.004000	0.15560	0.344000	0.25628	0.332000	0.28634	0.187000	0.16998	1.436000	0.47453	0.561000	0.74099	TCT		0.463	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			35	59	1	0	2.48696e-23	1	3.29125e-23	35	59				
RGS3	5998	broad.mit.edu	37	9	116359132	116359132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116359132C>T	ENST00000374140.2	+	26	3705	c.3496C>T	c.(3496-3498)Cgc>Tgc	p.R1166C	RGS3_ENST00000343817.5_Missense_Mutation_p.R885C|RGS3_ENST00000462143.1_Missense_Mutation_p.R487C|RGS3_ENST00000462403.1_Missense_Mutation_p.R279C|RGS3_ENST00000342620.5_Missense_Mutation_p.R136C|RGS3_ENST00000350696.5_Missense_Mutation_p.R1166C|RGS3_ENST00000394646.3_Missense_Mutation_p.R559C|RGS3_ENST00000374134.3_Missense_Mutation_p.R487C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1166	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCACAGAAGCGCATCTTCGG	0.582																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3496-3498)Cgc>Tgc		regulator of G-protein signaling 3							151.0	120.0	131.0					9																	116359132		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116359132C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3496C>T	9.37:g.116359132C>T	ENSP00000363255:p.Arg1166Cys					RGS3_ENST00000350696.5_Missense_Mutation_p.R1166C|RGS3_ENST00000374134.3_Missense_Mutation_p.R487C|RGS3_ENST00000342620.5_Missense_Mutation_p.R136C|RGS3_ENST00000343817.5_Missense_Mutation_p.R885C|RGS3_ENST00000462403.1_Missense_Mutation_p.R279C|RGS3_ENST00000394646.3_Missense_Mutation_p.R559C|RGS3_ENST00000462143.1_Missense_Mutation_p.R487C	p.R1166C	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			26	3705	+			1166			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3496C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920205	0.73098	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.02015	4.5;4.5;4.5;4.5;4.5;4.5;4.5;4.5	5.36	5.36	0.76844	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.13030	0.0316	M	0.80028	2.48	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	0.998;0.996;0.998;0.999;1.0;0.999	T	0.00032	-1.2274	10	0.87932	D	0	.	13.7445	0.62868	0.1636:0.8364:0.0:0.0	.	559;279;1062;885;1056;1166	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	C	1166;1166;885;559;334;487;136;487;279	ENSP00000363255:R1166C;ENSP00000259406:R1166C;ENSP00000340284:R885C;ENSP00000378141:R559C;ENSP00000420356:R487C;ENSP00000343359:R136C;ENSP00000363249:R487C;ENSP00000436168:R279C	ENSP00000343359:R136C	R	+	1	0	RGS3	115398953	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.885000	0.56182	2.532000	0.85374	0.555000	0.69702	CGC		0.582	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		20	47	0	0	0	1	0	20	47				
CDRT1	374286	broad.mit.edu	37	17	15522425	15522425	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15522425C>T	ENST00000395906.3	-	1	401	c.402G>A	c.(400-402)gcG>gcA	p.A134A	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	134										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GAGTATAATTCGCCTTGGTCC	0.433																																						ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(400-402)gcG>gcA		CMT1A duplicated region transcript 1							105.0	111.0	109.0					17																	15522425		2202	4298	6500	SO:0001819	synonymous_variant	374286							g.chr17:15522425C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.402G>A	17.37:g.15522425C>T						RP11-385D13.1_ENST00000455584.2_Intron	p.A134A	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	1	401	-			134					O43848|O95611	Silent	SNP	ENST00000395906.3	37	c.402G>A	CCDS45619.1																																																																																				0.433	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		60	97	0	0	0	1	0	60	97				
SIX4	51804	broad.mit.edu	37	14	61186556	61186556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61186556C>T	ENST00000216513.4	-	2	1530	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	491					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGGCTGTTTGCTCCGGAATTG	0.483																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1471-1473)Gca>Aca		SIX homeobox 4							119.0	119.0	119.0					14																	61186556		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61186556C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1471G>A	14.37:g.61186556C>T	ENSP00000216513:p.Ala491Thr						p.A491T	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1530	-			491					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1471G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.743152	0.00675	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90261	-2.64;0.95	5.72	1.3	0.21679	.	0.526840	0.21385	N	0.075413	T	0.70561	0.3238	N	0.02539	-0.55	0.25052	N	0.99112	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.58880	-0.7558	10	0.08837	T	0.75	.	6.5067	0.22198	0.0:0.514:0.1314:0.3546	.	483;491	G3V2N2;Q9UIU6	.;SIX4_HUMAN	T	491;164;483	ENSP00000216513:A491T;ENSP00000451537:A164T	ENSP00000216513:A491T	A	-	1	0	SIX4	60256309	0.994000	0.37717	0.930000	0.37139	0.445000	0.32107	0.267000	0.18552	0.092000	0.17331	-0.797000	0.03246	GCA		0.483	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			7	101	0	0	0	1	0	7	101				
ANO6	196527	broad.mit.edu	37	12	45814910	45814910	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45814910C>A	ENST00000320560.8	+	18	2476	c.2274C>A	c.(2272-2274)tcC>tcA	p.S758S	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.S758S|ANO6_ENST00000423947.3_Silent_p.S779S|ANO6_ENST00000441606.2_Silent_p.S740S|ANO6_ENST00000425752.2_Silent_p.S758S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	758					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACTACTGGTCCTTCTCCGTCC	0.453																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2272-2274)tcC>tcA		anoctamin 6							189.0	159.0	169.0					12																	45814910		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45814910C>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2274C>A	12.37:g.45814910C>A						ANO6_ENST00000425752.2_Silent_p.S758S|ANO6_ENST00000423947.3_Silent_p.S779S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.S758S|ANO6_ENST00000441606.2_Silent_p.S740S	p.S758S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			18	2476	+			758					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.2274C>A	CCDS31782.1																																																																																				0.453	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		4	73	1	0	1	1	1	4	73				
PRADC1	84279	broad.mit.edu	37	2	73457259	73457259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73457259C>A	ENST00000258083.2	-	2	217	c.150G>T	c.(148-150)aaG>aaT	p.K50N	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	50						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CACCAAAGTCCTTGGCAGGTG	0.502																																						ENST00000258083.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(148-150)aaG>aaT		protease-associated domain containing 1							79.0	74.0	75.0					2																	73457259		2203	4300	6503	SO:0001583	missense	84279					extracellular region		g.chr2:73457259C>A	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.150G>T	2.37:g.73457259C>A	ENSP00000258083:p.Lys50Asn					PRADC1_ENST00000480093.1_5'UTR	p.K50N	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN			2	217	-			50					Q2Z1P2	Missense_Mutation	SNP	ENST00000258083.2	37	c.150G>T	CCDS1924.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609623	0.66558	.	.	ENSG00000135617	ENST00000258083	.	.	.	4.97	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	L	0.60455	1.87	0.58432	D	0.999992	D	0.64830	0.994	D	0.73708	0.981	T	0.71537	-0.4563	9	0.51188	T	0.08	-18.3526	12.667	0.56848	0.0:0.9188:0.0:0.0812	.	50	Q9BSG0	PADC1_HUMAN	N	50	.	ENSP00000258083:K50N	K	-	3	2	PRADC1	73310767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.112000	0.41892	1.469000	0.48083	-0.150000	0.13652	AAG		0.502	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		8	13	1	0	5.50884e-06	1	6.28354e-06	8	13				
FNBP1L	54874	broad.mit.edu	37	1	94016649	94016649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94016649G>T	ENST00000271234.7	+	16	1948	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	FNBP1L_ENST00000370253.2_Missense_Mutation_p.E541D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.E594D|FNBP1L_ENST00000260506.8_Missense_Mutation_p.E541D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E599D	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	599	Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TAACTCTAGAGAAAAACAGTA	0.413																																						ENST00000260506.8																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(1621-1623)gaG>gaT		formin binding protein 1-like							91.0	93.0	92.0					1																	94016649		1914	4140	6054	SO:0001583	missense	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:94016649G>T		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.1797G>T	1.37:g.94016649G>T	ENSP00000271234:p.Glu599Asp					FNBP1L_ENST00000271234.7_Missense_Mutation_p.E599D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.E541D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E599D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.E594D	p.E541D	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	14	1774	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	599			Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|Interaction with DNM2 and WASL.|SH3.		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	c.1623G>T	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197127	0.38806	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T	0.53423	0.62;0.63;0.8	6.06	5.14	0.70334	.	0.093775	0.64402	D	0.000001	T	0.27967	0.0689	N	0.13043	0.29	0.58432	D	0.999997	D;D;D;B	0.76494	0.996;0.995;0.999;0.003	D;D;D;B	0.80764	0.987;0.978;0.994;0.014	T	0.36237	-0.9756	10	0.02654	T	1	-41.5678	10.7746	0.46342	0.0676:0.1321:0.8003:0.0	.	151;419;541;541	B4DKY5;B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.;.	D	594;599;541;594;408	ENSP00000359278:E594D;ENSP00000271234:E599D;ENSP00000260506:E541D	ENSP00000260506:E541D	E	+	3	2	FNBP1L	93789237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.685000	0.84117	1.550000	0.49438	0.655000	0.94253	GAG		0.413	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		11	29	1	0	9.70103e-10	1	1.18443e-09	11	29				
LAS1L	81887	broad.mit.edu	37	X	64743531	64743531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64743531G>T	ENST00000374811.3	-	11	1397	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.L436M|LAS1L_ENST00000374804.5_Missense_Mutation_p.L394M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	453					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGTTGAACAGCCTCCAGCCC	0.592																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1357-1359)Ctg>Atg		LAS1-like (S. cerevisiae)							42.0	29.0	33.0					X																	64743531		2200	4298	6498	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64743531G>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1357C>A	X.37:g.64743531G>T	ENSP00000363944:p.Leu453Met					LAS1L_ENST00000374804.5_Missense_Mutation_p.L394M|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.L436M	p.L453M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			11	1397	-			453					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1357C>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	9.408	1.079746	0.20309	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.89	1.76	0.24704	.	0.434158	0.22962	N	0.053532	T	0.34774	0.0909	L	0.52364	1.645	0.58432	D	0.999999	P;P;P	0.47350	0.713;0.894;0.612	B;B;B	0.40702	0.328;0.338;0.138	T	0.10109	-1.0644	9	0.44086	T	0.13	.	3.0058	0.06028	0.2519:0.0:0.4686:0.2795	.	394;436;453	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	M	436;453;394	.	ENSP00000363937:L394M	L	-	1	2	LAS1L	64660256	1.000000	0.71417	0.991000	0.47740	0.799000	0.45148	0.501000	0.22578	0.339000	0.23719	0.287000	0.19450	CTG		0.592	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		7	9	1	0	8.12818e-05	1	8.99451e-05	7	9				
SLX4	84464	broad.mit.edu	37	16	3645675	3645675	+	Silent	SNP	G	G	A	rs149315267		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3645675G>A	ENST00000294008.3	-	9	2584	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	648	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGGAAGGCCGCCGGGCACCA	0.622								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1942-1944)ggC>ggT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		G		0,4394		0,0,2197	63.0	65.0	64.0		1944	-3.8	0.0	16	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLX4	NM_032444.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		648/1835	3645675	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3645675G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1944C>T	16.37:g.3645675G>A							p.G648G	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			9	2584	-			648			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.1944C>T	CCDS10506.2																																																																																				0.622	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		6	32	0	0	0	1	0	6	32				
BAZ1B	9031	broad.mit.edu	37	7	72892056	72892056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72892056G>A	ENST00000339594.4	-	7	2073	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R579W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	579					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTCATACCGCTTCTGTTTT	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1735-1737)Cgg>Tgg		bromodomain adjacent to zinc finger domain, 1B							158.0	175.0	169.0					7																	72892056		2203	4295	6498	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892056G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1735C>T	7.37:g.72892056G>A	ENSP00000342434:p.Arg579Trp					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R579W	p.R579W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2073	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	579					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1735C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913909	0.52439	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60299	0.2;0.2	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	L	0.60455	1.87	0.51767	D	0.999933	D	0.89917	1.0	D	0.87578	0.998	T	0.74297	-0.3711	10	0.66056	D	0.02	-17.6223	13.553	0.61743	0.0:0.0:0.7019:0.2981	.	579	Q9UIG0	BAZ1B_HUMAN	W	579	ENSP00000342434:R579W;ENSP00000385442:R579W	ENSP00000342434:R579W	R	-	1	2	BAZ1B	72529992	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	2.527000	0.45615	1.395000	0.46643	0.655000	0.94253	CGG		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		177	152	0	0	0	1	0	177	152				
RUSC2	9853	broad.mit.edu	37	9	35560530	35560530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35560530G>A	ENST00000455600.1	+	10	4462	c.3893G>A	c.(3892-3894)aGc>aAc	p.S1298N	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1298						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCAACAGCAGCAGCGAG	0.642																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3892-3894)aGc>aAc		RUN and SH3 domain containing 2							44.0	51.0	49.0					9																	35560530		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35560530G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3893G>A	9.37:g.35560530G>A	ENSP00000393922:p.Ser1298Asn						p.S1298N	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4462	+			1298					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3893G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	4.622	0.115546	0.08831	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.22945	1.93;1.93	3.51	3.51	0.40186	.	0.377327	0.28736	N	0.014319	T	0.13415	0.0325	N	0.19112	0.55	0.27596	N	0.949135	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.24483	T	0.36	-1.3429	6.256	0.20874	0.14:0.0:0.86:0.0	.	1298	Q8N2Y8	RUSC2_HUMAN	N	1298	ENSP00000355177:S1298N;ENSP00000393922:S1298N	ENSP00000355177:S1298N	S	+	2	0	RUSC2	35550530	0.344000	0.24827	0.997000	0.53966	0.385000	0.30292	0.671000	0.25172	2.240000	0.73641	0.561000	0.74099	AGC		0.642	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		22	36	0	0	0	1	0	22	36				
GLTSCR1L	23506	broad.mit.edu	37	6	42832680	42832680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42832680G>A	ENST00000314073.5	+	13	2912	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V	GLTSCR1L_ENST00000394168.1_Silent_p.V912V			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	912																	TGGGCTTAGTGCAGTACCAGA	0.517																																						ENST00000314073.5																			0											c.(2734-2736)gtG>gtA		GLTSCR1-like							52.0	50.0	51.0					6																	42832680		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42832680G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2736G>A	6.37:g.42832680G>A						GLTSCR1L_ENST00000394168.1_Silent_p.V912V	p.V912V							13	2912	+								A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.2736G>A	CCDS34451.1																																																																																				0.517	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		18	21	0	0	0	1	0	18	21				
HIF3A	64344	broad.mit.edu	37	19	46815864	46815864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46815864C>T	ENST00000377670.4	+	8	1010	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	HIF3A_ENST00000420102.2_Missense_Mutation_p.R276W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R258W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R325W|HIF3A_ENST00000244303.6_Missense_Mutation_p.R258W|HIF3A_ENST00000600383.1_Missense_Mutation_p.R258W|HIF3A_ENST00000339613.2_Missense_Mutation_p.R271W	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	327					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCAGGGGGACGGGGCCCCCA	0.617																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(811-813)Cgg>Tgg		hypoxia inducible factor 3, alpha subunit							75.0	77.0	76.0					19																	46815864		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46815864C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.979C>T	19.37:g.46815864C>T	ENSP00000366898:p.Arg327Trp					HIF3A_ENST00000244303.6_Missense_Mutation_p.R258W|HIF3A_ENST00000377670.4_Missense_Mutation_p.R327W|HIF3A_ENST00000420102.2_Missense_Mutation_p.R276W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R258W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R325W|HIF3A_ENST00000600383.1_Missense_Mutation_p.R258W	p.R271W			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	8	1066	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	327			PAS 2.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.811C>T	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.871322|3.871322	0.72065|0.72065	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000472815	T;T;T;T;T|.	0.16196|.	2.36;2.36;2.36;2.36;2.36|.	4.75|4.75	4.75|4.75	0.60458|0.60458	PAS fold-3 (1);|.	0.000000|.	0.35378|.	N|.	0.003259|.	T|T	0.54127|0.54127	0.1839|0.1839	L|L	0.37561|0.37561	1.115|1.115	0.41853|0.41853	D|D	0.990187|0.990187	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.75484|.	0.978;0.986;0.957;0.983;0.975;0.975;0.98|.	T|T	0.50717|0.50717	-0.8795|-0.8795	10|5	0.87932|.	D|.	0|.	.|.	10.814|10.814	0.46564|0.46564	0.1892:0.8108:0.0:0.0|0.1892:0.8108:0.0:0.0	.|.	276;258;325;276;271;327;327|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185|.	.;.;.;.;.;HIF3A_HUMAN;.|.	W|M	327;327;258;271;271;325;276|299	ENSP00000366898:R327W;ENSP00000244303:R258W;ENSP00000341877:R271W;ENSP00000300862:R325W;ENSP00000407771:R276W|.	ENSP00000244302:R327W|.	R|T	+|+	1|2	2|0	HIF3A|HIF3A	51507704|51507704	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.849000|1.849000	0.39318|0.39318	2.370000|2.370000	0.80446|0.80446	0.591000|0.591000	0.81541|0.81541	CGG|ACG		0.617	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			42	56	0	0	0	1	0	42	56				
GALNT13	114805	broad.mit.edu	37	2	155098658	155098658	+	Missense_Mutation	SNP	C	C	T	rs376522005		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155098658C>T	ENST00000392825.3	+	5	994	c.427C>T	c.(427-429)Cca>Tca	p.P143S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P143S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	143	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAATCGTTCCCCACACTATCT	0.373																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(427-429)Cca>Tca		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)		C	SER/PRO	0,4406		0,0,2203	129.0	119.0	122.0		427	5.6	1.0	2		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT13	NM_052917.2	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	143/557	155098658	1,13005	2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155098658C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.427C>T	2.37:g.155098658C>T	ENSP00000376570:p.Pro143Ser					GALNT13_ENST00000409237.1_Missense_Mutation_p.P143S	p.P143S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			5	994	+			143			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.427C>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879598	0.91740	0.0	1.16E-4	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59638	0.25;0.25	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.82878	-0.0239	10	0.66056	D	0.02	.	18.1371	0.89623	0.0:1.0:0.0:0.0	.	143;143	Q08ER7;Q8IUC8	.;GLT13_HUMAN	S	143	ENSP00000376570:P143S;ENSP00000387239:P143S	ENSP00000376570:P143S	P	+	1	0	GALNT13	154806904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.621000	0.88768	0.579000	0.79373	CCA		0.373	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		4	81	0	0	0	1	0	4	81				
KLHL20	27252	broad.mit.edu	37	1	173721016	173721016	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173721016C>A	ENST00000209884.4	+	4	847	c.711C>A	c.(709-711)gcC>gcA	p.A237A	KLHL20_ENST00000546011.1_Silent_p.A48A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	237	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGATGGCCTGGGTCAAAT	0.428																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(709-711)gcC>gcA		kelch-like family member 20							104.0	92.0	96.0					1																	173721016		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173721016C>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.711C>A	1.37:g.173721016C>A						KLHL20_ENST00000546011.1_Silent_p.A48A	p.A237A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			4	847	+			237			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.711C>A	CCDS1310.1																																																																																				0.428	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		6	40	1	0	0.00198382	1	0.00210581	6	40				
SMARCC1	6599	broad.mit.edu	37	3	47823105	47823105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47823105C>T	ENST00000254480.5	-	1	302	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SMARCC1_ENST00000425518.1_Intron	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	61					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTTGTAGTGCTTGCCCAGCC	0.711																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(181-183)aaG>aaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							15.0	19.0	18.0					3																	47823105		2181	4260	6441	SO:0001819	synonymous_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47823105C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.183G>A	3.37:g.47823105C>T						SMARCC1_ENST00000425518.1_Intron	p.K61K	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	1	302	-			61					Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	c.183G>A	CCDS2758.1																																																																																				0.711	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			4	9	0	0	0	1	0	4	9				
PPP1R13B	23368	broad.mit.edu	37	14	104205229	104205229	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104205229G>T	ENST00000202556.9	-	13	3006	c.2724C>A	c.(2722-2724)atC>atA	p.I908I	PPP1R13B_ENST00000423488.2_Silent_p.I327I|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	908					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCACCTCATAGATGATCCTCT	0.647																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2722-2724)atC>atA		protein phosphatase 1, regulatory subunit 13B							106.0	119.0	115.0					14																	104205229		2126	4231	6357	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104205229G>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2724C>A	14.37:g.104205229G>T						PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.I327I	p.I908I	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			13	3006	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	908					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2724C>A	CCDS41997.1																																																																																				0.647	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		51	84	1	0	1.38658e-30	1	1.85817e-30	51	84				
SAAL1	113174	broad.mit.edu	37	11	18110971	18110971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18110971C>T	ENST00000524803.1	-	7	725	c.676G>A	c.(676-678)Gct>Act	p.A226T	SAAL1_ENST00000529318.1_Missense_Mutation_p.A226T|SAAL1_ENST00000300013.4_Missense_Mutation_p.A226T|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	226										breast(2)|large_intestine(5)|lung(8)	15						GGCTGAGCAGCCCCATTTCTG	0.493																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(676-678)Gct>Act		serum amyloid A-like 1							94.0	87.0	89.0					11																	18110971		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18110971C>T	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.676G>A	11.37:g.18110971C>T	ENSP00000432487:p.Ala226Thr					SAAL1_ENST00000300013.4_Missense_Mutation_p.A226T|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.A226T	p.A226T			Q96ER3	SAAL1_HUMAN			7	725	-			226					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.676G>A	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	C	1.673	-0.508365	0.04231	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318	T;T;T;T;T	0.55413	1.26;0.52;1.48;0.66;0.52	5.57	0.931	0.19460	Armadillo-like helical (1);Armadillo-type fold (1);	1.013840	0.07889	N	0.970896	T	0.26846	0.0657	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.20472	-1.0274	10	0.15066	T	0.55	-0.1212	1.0036	0.01482	0.2707:0.367:0.1531:0.2092	.	226;226;226	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	T	226;226;63;115;226	ENSP00000432487:A226T;ENSP00000300013:A226T;ENSP00000432044:A63T;ENSP00000436031:A115T;ENSP00000432216:A226T	ENSP00000300013:A226T	A	-	1	0	SAAL1	18067547	0.000000	0.05858	0.088000	0.20740	0.154000	0.21943	-0.226000	0.09139	0.278000	0.22164	-0.181000	0.13052	GCT		0.493	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		37	40	0	0	0	1	0	37	40				
ATAD2	29028	broad.mit.edu	37	8	124340563	124340563	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124340563A>G	ENST00000287394.5	-	25	3842	c.3735T>C	c.(3733-3735)acT>acC	p.T1245T	ATAD2_ENST00000521903.1_Silent_p.T563T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1245					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTATATTACAAGTATTTGAAT	0.378																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(3733-3735)acT>acC		ATPase family, AAA domain containing 2							107.0	104.0	105.0					8																	124340563		2203	4300	6503	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124340563A>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3735T>C	8.37:g.124340563A>G						ATAD2_ENST00000521903.1_Silent_p.T563T	p.T1245T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		25	3842	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1245					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.3735T>C	CCDS6343.1																																																																																				0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		23	41	0	0	0	1	0	23	41				
ARMC12	221481	broad.mit.edu	37	6	35716620	35716620	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35716620T>C	ENST00000373866.3	+	6	1018	c.996T>C	c.(994-996)agT>agC	p.S332S	ARMC12_ENST00000373869.3_Silent_p.S322S|ARMC12_ENST00000288065.2_Silent_p.S359S			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	332						nucleus (GO:0005634)											GCCAGCCCAGTCGTTCCTACT	0.488																																						ENST00000373866.3																			0											c.(994-996)agT>agC		armadillo repeat containing 12							42.0	44.0	43.0					6																	35716620		2203	4300	6503	SO:0001819	synonymous_variant	221481						binding	g.chr6:35716620T>C	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.996T>C	6.37:g.35716620T>C						ARMC12_ENST00000288065.2_Silent_p.S359S|ARMC12_ENST00000373869.3_Silent_p.S322S	p.S332S			Q5T9G4	CF081_HUMAN			6	1018	+			332					Q8NEB2|Q96LL8	Silent	SNP	ENST00000373866.3	37	c.996T>C																																																																																					0.488	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		9	24	0	0	0	1	0	9	24				
ZNF425	155054	broad.mit.edu	37	7	148809367	148809367	+	Missense_Mutation	SNP	C	C	A	rs144417073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809367C>A	ENST00000378061.2	-	3	298	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTGATCAAATCTGGCTTGGAA	0.428																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(166-168)Gat>Tat		zinc finger protein 425							211.0	193.0	199.0					7																	148809367		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148809367C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.166G>T	7.37:g.148809367C>A	ENSP00000367300:p.Asp56Tyr					ZNF425_ENST00000484196.1_5'UTR	p.D56Y	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	298	-	Melanoma(164;0.15)		56			KRAB.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.166G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136037	0.37728	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.00976	5.48;5.48	3.16	0.279	0.15677	Krueppel-associated box (3);	.	.	.	.	T	0.01558	0.0050	M	0.69463	2.115	0.09310	N	1	P	0.45531	0.86	B	0.43536	0.423	T	0.44757	-0.9307	9	0.66056	D	0.02	.	5.2186	0.15356	0.0:0.5759:0.0:0.4241	.	56	Q6IV72	ZN425_HUMAN	Y	56;78	ENSP00000367300:D56Y;ENSP00000420379:D78Y	ENSP00000367300:D56Y	D	-	1	0	ZNF425	148440300	0.014000	0.17966	0.139000	0.22197	0.987000	0.75469	-0.380000	0.07427	-0.169000	0.10834	-0.142000	0.14014	GAT		0.428	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		114	129	1	0	1.46925e-46	1	1.98514e-46	114	129				
MKRN3	7681	broad.mit.edu	37	15	23811803	23811803	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23811803G>T	ENST00000314520.3	+	1	1350	c.874G>T	c.(874-876)Gca>Tca	p.A292S	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	292	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCATTGAAGCACACGAGAA	0.522																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(874-876)Gca>Tca		makorin ring finger protein 3							102.0	95.0	97.0					15																	23811803		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811803G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.874G>T	15.37:g.23811803G>T	ENSP00000313881:p.Ala292Ser					MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.A292S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1350	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	292			Makorin-type Cys-His.			Missense_Mutation	SNP	ENST00000314520.3	37	c.874G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326461	0.41197	.	.	ENSG00000179455	ENST00000314520	T	0.34072	1.38	4.07	2.17	0.27698	.	0.174543	0.49305	D	0.000150	T	0.46308	0.1386	M	0.71296	2.17	0.53005	D	0.99996	D	0.62365	0.991	P	0.56042	0.79	T	0.36625	-0.9740	10	0.41790	T	0.15	-16.1628	7.6336	0.28253	0.0949:0.1674:0.7377:0.0	.	292	Q13064	MKRN3_HUMAN	S	292	ENSP00000313881:A292S	ENSP00000313881:A292S	A	+	1	0	MKRN3	21362896	1.000000	0.71417	0.476000	0.27291	0.045000	0.14185	4.997000	0.63921	0.664000	0.31047	-0.140000	0.14226	GCA		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		19	20	1	0	1.67942e-08	1	2.01326e-08	19	20				
DNAJC21	134218	broad.mit.edu	37	5	34954715	34954715	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34954715T>C	ENST00000342382.4	+	12	1719	c.1492T>C	c.(1492-1494)Ttt>Ctt	p.F498L	DNAJC21_ENST00000303525.7_Missense_Mutation_p.F511L|DNAJC21_ENST00000382021.2_Missense_Mutation_p.F543L			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	498					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAATAAACTTTTTGACCATCT	0.388																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1627-1629)Ttt>Ctt		DnaJ (Hsp40) homolog, subfamily C, member 21							107.0	105.0	106.0					5																	34954715		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954715T>C		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1492T>C	5.37:g.34954715T>C	ENSP00000343728:p.Phe498Leu					DNAJC21_ENST00000303525.7_Missense_Mutation_p.F511L|DNAJC21_ENST00000342382.4_Missense_Mutation_p.F498L	p.F543L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		13	1854	+	all_lung(31;7.08e-05)		498					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1627T>C	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	T	32	5.140584	0.94560	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.40225	1.04;1.04;1.04	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.90922	3.16	0.80722	D	1	D;P	0.89917	1.0;0.565	D;B	0.87578	0.998;0.405	T	0.79132	-0.1929	10	0.72032	D	0.01	-19.4385	16.8061	0.85666	0.0:0.0:0.0:1.0	.	498;543	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	L	498;543;511	ENSP00000343728:F498L;ENSP00000371451:F543L;ENSP00000306289:F511L	ENSP00000306289:F511L	F	+	1	0	DNAJC21	34990472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.740000	0.74832	2.367000	0.80283	0.528000	0.53228	TTT		0.388	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		6	104	0	0	0	1	0	6	104				
HSPG2	3339	broad.mit.edu	37	1	22168809	22168809	+	Missense_Mutation	SNP	C	C	T	rs368541474		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22168809C>T	ENST00000374695.3	-	68	9054	c.8975G>A	c.(8974-8976)cGt>cAt	p.R2992H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2992	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGGCTGCACGACACACATA	0.632																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8974-8976)cGt>cAt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	C	HIS/ARG	0,4406		0,0,2203	45.0	41.0	43.0		8975	4.0	0.8	1		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPG2	NM_005529.5	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2992/4392	22168809	1,13005	2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168809C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8975G>A	1.37:g.22168809C>T	ENSP00000363827:p.Arg2992His						p.R2992H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	68	9054	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2992			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8975G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657786	0.47467	0.0	1.16E-4	ENSG00000142798	ENST00000374695	T	0.14766	2.48	4.95	4.02	0.46733	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245105	0.22083	N	0.064878	T	0.25044	0.0608	L	0.47016	1.485	0.26989	N	0.965191	D;D	0.60575	0.988;0.978	P;P	0.61940	0.896;0.828	T	0.03296	-1.1051	10	0.37606	T	0.19	.	11.1409	0.48402	0.0:0.9071:0.0:0.0929	.	932;2992	Q59EG0;P98160	.;PGBM_HUMAN	H	2992	ENSP00000363827:R2992H	ENSP00000363827:R2992H	R	-	2	0	HSPG2	22041396	0.979000	0.34478	0.789000	0.31954	0.015000	0.08874	2.445000	0.44899	1.037000	0.40024	0.462000	0.41574	CGT		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		10	16	0	0	0	1	0	10	16				
CCDC37	348807	broad.mit.edu	37	3	126138971	126138971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126138971G>T	ENST00000352312.1	+	11	1080	c.981G>T	c.(979-981)tgG>tgT	p.W327C	CCDC37_ENST00000505024.1_Missense_Mutation_p.W328C|CCDC37_ENST00000393425.1_Missense_Mutation_p.W328C	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	327										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAAGCCCTGGAGGTTTCTGC	0.652																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(982-984)tgG>tgT		coiled-coil domain containing 37							29.0	29.0	29.0					3																	126138971		2202	4299	6501	SO:0001583	missense	348807							g.chr3:126138971G>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.981G>T	3.37:g.126138971G>T	ENSP00000344749:p.Trp327Cys					CCDC37_ENST00000505024.1_Missense_Mutation_p.W328C|CCDC37_ENST00000352312.1_Missense_Mutation_p.W327C	p.W328C			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	11	1083	+			327					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.984G>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	3.047	-0.196252	0.06259	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32272	1.47;1.46;1.46	3.09	-4.16	0.03869	.	2.623150	0.01086	N	0.005090	T	0.31606	0.0802	L	0.44542	1.39	0.09310	N	0.999999	P;P	0.51791	0.948;0.913	P;B	0.47162	0.54;0.339	T	0.44967	-0.9293	10	0.52906	T	0.07	1.3626	7.9125	0.29800	0.2132:0.5984:0.1884:0.0	.	328;327	Q494V2-2;Q494V2	.;CCD37_HUMAN	C	327;328;328	ENSP00000344749:W327C;ENSP00000377076:W328C;ENSP00000423046:W328C	ENSP00000344749:W327C	W	+	3	0	CCDC37	127621661	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.931000	0.03967	-1.075000	0.03129	-0.339000	0.08088	TGG		0.652	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		16	12	1	0	6.72482e-11	1	8.32712e-11	16	12				
FSCN2	25794	broad.mit.edu	37	17	79496251	79496251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79496251G>A	ENST00000417245.2	+	1	830	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.V232M|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	232					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGCACCCGTGGGGCCCGC	0.662																																						ENST00000417245.2																			0				endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(694-696)Gtg>Atg		fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)																																				SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496251G>A	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.694G>A	17.37:g.79496251G>A	ENSP00000388716:p.Val232Met					FSCN2_ENST00000334850.7_Missense_Mutation_p.V232M	p.V232M	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	830	+	all_neural(118;0.0878)|Melanoma(429;0.242)		232					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.694G>A	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	G	3.898	-0.022658	0.07634	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.32753	1.44;1.45	4.95	0.117	0.14652	Fascin domain (1);Actin cross-linking (1);	0.533757	0.18287	N	0.145846	T	0.12603	0.0306	N	0.13235	0.315	0.26282	N	0.978254	B;B	0.21452	0.013;0.056	B;B	0.15870	0.006;0.014	T	0.14392	-1.0474	10	0.24483	T	0.36	-14.6747	2.9791	0.05947	0.4596:0.0:0.344:0.1963	.	232;232	O14926;A8MRA6	FSCN2_HUMAN;.	M	232	ENSP00000388716:V232M;ENSP00000334665:V232M	ENSP00000334665:V232M	V	+	1	0	FSCN2	77110846	0.000000	0.05858	0.681000	0.30009	0.162000	0.22319	-0.129000	0.10515	0.484000	0.27630	0.460000	0.39030	GTG		0.662	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		3	3	0	0	0	1	0	3	3				
IQSEC2	23096	broad.mit.edu	37	X	53277913	53277913	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53277913C>A	ENST00000375368.5	-	5	2619	c.2419G>T	c.(2419-2421)Gac>Tac	p.D807Y	IQSEC2_ENST00000396435.3_Missense_Mutation_p.D817Y|IQSEC2_ENST00000375365.2_Missense_Mutation_p.D612Y			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	807	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCAACACGTCTCTGTTGAAC	0.602																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(2449-2451)Gac>Tac		IQ motif and Sec7 domain 2							94.0	72.0	79.0					X																	53277913		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53277913C>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2419G>T	X.37:g.53277913C>A	ENSP00000364517:p.Asp807Tyr					IQSEC2_ENST00000375365.2_Missense_Mutation_p.D612Y|IQSEC2_ENST00000375368.5_Missense_Mutation_p.D807Y	p.D817Y	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			6	2649	-			807			SEC7.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.2449G>T		.	.	.	.	.	.	.	.	.	.	C	20.6	4.009613	0.75046	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.55588	0.51;0.51;0.51	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.979;0.999	T	0.77742	-0.2474	10	0.87932	D	0	.	17.3559	0.87335	0.0:1.0:0.0:0.0	.	817;612	Q5JU85-2;Q5JU85-3	.;.	Y	817;807;612	ENSP00000379712:D817Y;ENSP00000364517:D807Y;ENSP00000364514:D612Y	ENSP00000364514:D612Y	D	-	1	0	IQSEC2	53294638	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.815000	0.86186	2.366000	0.80165	0.526000	0.51066	GAC		0.602	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		5	58	1	0	0.0215528	1	0.0221649	5	58				
PRKAG1	5571	broad.mit.edu	37	12	49396702	49396702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49396702C>A	ENST00000548065.1	-	12	1432	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	PRKAG1_ENST00000552212.1_Missense_Mutation_p.G294C|PRKAG1_ENST00000547306.1_Missense_Mutation_p.G275C|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.G242C|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.G335C|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	326	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	TTCTCTCCACCTGTGAGCACC	0.542																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(976-978)Ggt>Tgt		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							108.0	84.0	92.0					12																	49396702		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49396702C>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.976G>T	12.37:g.49396702C>A	ENSP00000447433:p.Gly326Cys					RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.G275C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.G242C|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.G335C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.G294C|RP11-386G11.5_ENST00000552284.1_RNA	p.G326C			P54619	AAKG1_HUMAN			12	1432	-			326			CBS 4.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.976G>T	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481388	0.44147	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770	D;D;D;D;D;D	0.86297	-1.74;-1.92;-1.96;-1.96;-1.95;-2.1	4.96	4.96	0.65561	Cystathionine beta-synthase, core (1);	0.247491	0.42294	D	0.000739	D	0.85716	0.5761	L	0.45352	1.415	0.51767	D	0.999939	P;P	0.44006	0.824;0.824	B;B	0.44044	0.439;0.439	D	0.87862	0.2665	10	0.87932	D	0	-10.3711	17.1367	0.86742	0.0:1.0:0.0:0.0	.	335;326	Q8N7V9;P54619	.;AAKG1_HUMAN	C	242;275;335;326;294;246	ENSP00000378599:G242C;ENSP00000448873:G275C;ENSP00000323867:G335C;ENSP00000447433:G326C;ENSP00000448972:G294C;ENSP00000449121:G246C	ENSP00000323867:G335C	G	-	1	0	PRKAG1	47682969	0.997000	0.39634	0.913000	0.36048	0.990000	0.78478	3.718000	0.54919	2.581000	0.87130	0.655000	0.94253	GGT		0.542	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		9	25	1	0	0.00829132	1	0.00869385	9	25				
WASL	8976	broad.mit.edu	37	7	123332603	123332603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332603G>T	ENST00000223023.4	-	9	1477	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	382	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCCCAGGAGGAGGTGGAGG	0.617																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1144-1146)cCt>cAt		Wiskott-Aldrich syndrome-like							43.0	50.0	47.0					7																	123332603		2202	4300	6502	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332603G>T	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1145C>A	7.37:g.123332603G>T	ENSP00000223023:p.Pro382His						p.P382H	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1477	-			382			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1145C>A	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024435	0.35701	.	.	ENSG00000106299	ENST00000223023	D	0.91894	-2.93	5.43	5.43	0.79202	Wiscott-Aldrich syndrome, C-terminal (1);	0.115488	0.64402	D	0.000014	D	0.95404	0.8508	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.94637	0.7827	10	0.41790	T	0.15	-11.5324	18.8389	0.92174	0.0:0.0:1.0:0.0	.	382	O00401	WASL_HUMAN	H	382	ENSP00000223023:P382H	ENSP00000223023:P382H	P	-	2	0	WASL	123119839	1.000000	0.71417	0.535000	0.28026	0.547000	0.35210	6.609000	0.74173	2.532000	0.85374	0.650000	0.86243	CCT		0.617	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		26	68	1	0	1.75199e-13	1	2.22232e-13	26	68				
OR5K2	402135	broad.mit.edu	37	3	98217292	98217292	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98217292T>G	ENST00000427338.1	+	1	845	c.768T>G	c.(766-768)ttT>ttG	p.F256L	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATCTATTTTTTTCCTATACA	0.333																																						ENST00000427338.1																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(766-768)ttT>ttG		olfactory receptor, family 5, subfamily K, member 2							81.0	81.0	81.0					3																	98217292		2202	4300	6502	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98217292T>G	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.768T>G	3.37:g.98217292T>G	ENSP00000393889:p.Phe256Leu					CLDND1_ENST00000502288.1_Intron	p.F256L	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN			1	845	+			256					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.768T>G	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.979479	0.00046	.	.	ENSG00000231861	ENST00000427338	T	0.32023	1.47	2.98	0.964	0.19655	GPCR, rhodopsin-like superfamily (1);	0.172527	0.27682	N	0.018291	T	0.07954	0.0199	N	0.02158	-0.66	0.30608	N	0.75982	B	0.06786	0.001	B	0.06405	0.002	T	0.35549	-0.9784	10	0.05721	T	0.95	-17.0906	5.1348	0.14928	0.0:0.4539:0.0:0.5461	.	256	Q8NHB8	OR5K2_HUMAN	L	256	ENSP00000393889:F256L	ENSP00000393889:F256L	F	+	3	2	OR5K2	99699982	0.000000	0.05858	0.312000	0.25196	0.006000	0.05464	-1.062000	0.03468	0.210000	0.20664	-0.415000	0.06103	TTT		0.333	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			4	62	0	0	0	1	0	4	62				
PLCD3	113026	broad.mit.edu	37	17	43190527	43190527	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43190527G>A	ENST00000322765.5	-	14	2204	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	698	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GCCGGGCACAGTCTGCGGGCA	0.627																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(2089-2091)gaC>gaT		phospholipase C, delta 3	Phosphatidylserine(DB00144)						25.0	27.0	26.0					17																	43190527		2112	4238	6350	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43190527G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.2091C>T	17.37:g.43190527G>A						PLCD3_ENST00000540511.1_5'UTR	p.D697D	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			14	2204	-			698			C2.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.2091C>T		.	.	.	.	.	.	.	.	.	.	G	5.177	0.218285	0.09810	.	.	ENSG00000161714	ENST00000539433	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	T	0.58466	0.2124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55068	-0.8198	4	.	.	.	.	8.3893	0.32518	0.0834:0.1583:0.7584:0.0	.	.	.	.	I	70	.	.	T	-	2	0	PLCD3	40546053	1.000000	0.71417	0.998000	0.56505	0.486000	0.33341	3.579000	0.53900	2.672000	0.90937	0.555000	0.69702	ACT		0.627	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		5	5	0	0	0	1	0	5	5				
IRF4	3662	broad.mit.edu	37	6	401645	401645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:401645G>A	ENST00000380956.4	+	7	1093	c.967G>A	c.(967-969)Ggg>Agg	p.G323R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	323					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)	p.G323R(1)		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)		GGCCCCCGACGGGCTCTATGC	0.612			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		1	Substitution - Missense(1)	p.G323R(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(967-969)Ggg>Agg		interferon regulatory factor 4							46.0	48.0	47.0					6																	401645		2203	4300	6503	SO:0001583	missense	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.chr6:401645G>A	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.967G>A	6.37:g.401645G>A	ENSP00000370343:p.Gly323Arg						p.G323R	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)	7	1093	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	323					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.967G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833109	0.91036	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96522	-4.04	5.76	5.76	0.90799	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98264	1.0500	10	0.56958	D	0.05	-32.0017	19.9857	0.97347	0.0:0.0:1.0:0.0	.	323;353;322;323	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	R	323;352	ENSP00000370343:G323R	ENSP00000370343:G323R	G	+	1	0	IRF4	346645	1.000000	0.71417	0.985000	0.45067	0.615000	0.37417	9.414000	0.97362	2.706000	0.92434	0.655000	0.94253	GGG		0.612	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			19	29	0	0	0	1	0	19	29				
DCX	1641	broad.mit.edu	37	X	110653599	110653599	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110653599C>T	ENST00000338081.3	-	2	442	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	DCX_ENST00000356915.2_Missense_Mutation_p.E10K|DCX_ENST00000371993.2_Missense_Mutation_p.E10K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.E10K|DCX_ENST00000488120.1_Missense_Mutation_p.E10K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	91					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTATCTCTTTCGTCAAAGTGT	0.507																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(271-273)Gaa>Aaa		doublecortin							106.0	97.0	100.0					X																	110653599		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653599C>T	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.271G>A	X.37:g.110653599C>T	ENSP00000337697:p.Glu91Lys					DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.E10K|DCX_ENST00000356915.2_Missense_Mutation_p.E10K|DCX_ENST00000488120.1_Missense_Mutation_p.E10K|DCX_ENST00000371993.2_Missense_Mutation_p.E10K	p.E91K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			2	442	-			91					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.271G>A	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200639	0.94997	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	T;T;T;T;T;T	0.58358	1.07;1.1;0.83;1.07;1.1;0.34	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	L	0.39245	1.2	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.95	T	0.68884	-0.5291	10	0.87932	D	0	.	18.1845	0.89789	0.0:1.0:0.0:0.0	.	79;91	B4DM53;O43602	.;DCX_HUMAN	K	10;10;91;10;10;10	ENSP00000349385:E10K;ENSP00000361061:E10K;ENSP00000337697:E91K;ENSP00000348553:E10K;ENSP00000419861:E10K;ENSP00000418811:E10K	ENSP00000337697:E91K	E	-	1	0	DCX	110540255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.487000	0.83934	0.513000	0.50165	GAA		0.507	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		10	111	0	0	0	1	0	10	111				
WDFY1	57590	broad.mit.edu	37	2	224763764	224763764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224763764G>A	ENST00000233055.4	-	6	611	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	170						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACCAACGAAAGCATACTGAGT	0.433																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(508-510)gCt>gTt		WD repeat and FYVE domain containing 1							151.0	128.0	136.0					2																	224763764		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224763764G>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.509C>T	2.37:g.224763764G>A	ENSP00000233055:p.Ala170Val						p.A170V	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	6	611	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	170					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.509C>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789100	0.49997	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.26067	1.76;1.79	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.108809	0.64402	D	0.000007	T	0.33585	0.0868	L	0.33710	1.025	0.80722	D	1	D	0.67145	0.996	P	0.57620	0.824	T	0.02031	-1.1226	10	0.08179	T	0.78	-18.0384	19.7009	0.96052	0.0:0.0:1.0:0.0	.	170	Q8IWB7	WDFY1_HUMAN	V	170;127	ENSP00000233055:A170V;ENSP00000395416:A127V	ENSP00000233055:A170V	A	-	2	0	WDFY1	224472008	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.188000	0.94921	2.646000	0.89796	0.563000	0.77884	GCT		0.433	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		8	55	0	0	0	1	0	8	55				
SLC44A1	23446	broad.mit.edu	37	9	108120689	108120689	+	Silent	SNP	G	G	A	rs146574269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120689G>A	ENST00000374720.3	+	7	982	c.735G>A	c.(733-735)acG>acA	p.T245T	SLC44A1_ENST00000343170.7_Silent_p.T37T|SLC44A1_ENST00000374724.1_Silent_p.T245T|SLC44A1_ENST00000374723.1_Silent_p.T245T	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	245					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGATCTTAACGATTCTGGTCA	0.323																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(733-735)acG>acA		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)	G		0,4406		0,0,2203	230.0	214.0	219.0		735	-6.1	0.3	9	dbSNP_134	219	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLC44A1	NM_080546.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		245/658	108120689	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108120689G>A	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.735G>A	9.37:g.108120689G>A						SLC44A1_ENST00000374723.1_Silent_p.T245T|SLC44A1_ENST00000374724.1_Silent_p.T245T|SLC44A1_ENST00000343170.7_Silent_p.T37T	p.T245T	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			7	982	+			245					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	ENST00000374720.3	37	c.735G>A	CCDS6763.1																																																																																				0.323	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		40	67	0	0	0	1	0	40	67				
PAK3	5063	broad.mit.edu	37	X	110366334	110366334	+	Start_Codon_SNP	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110366334G>A	ENST00000372010.1	+	5	445	c.3G>A	c.(1-3)atG>atA	p.M1I	PAK3_ENST00000372007.5_Start_Codon_SNP_p.M1I|PAK3_ENST00000519681.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000518291.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000262836.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000446737.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000417227.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000425146.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000360648.4_Start_Codon_SNP_p.M1I			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	1					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACTGAAAATGTCTGACGGTC	0.428										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1-3)atG>atA		p21 protein (Cdc42/Rac)-activated kinase 3							96.0	101.0	100.0					X																	110366334		2203	4300	6503	SO:0001582	initiator_codon_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110366334G>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.3G>A	X.37:g.110366334G>A	ENSP00000361080:p.Met1Ile	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000417227.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000360648.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000372007.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000518291.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000425146.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000446737.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000262836.4_Start_Codon_SNP_p.M1I	p.M1I			O75914	PAK3_HUMAN			5	445	+			1					A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Translation_Start_Site	SNP	ENST00000372010.1	37	c.3G>A	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885826	0.91814	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73047	-0.55;-0.55;-0.59;-0.64;-0.55;-0.71;-0.71;-0.64;-0.59	5.41	5.41	0.78517	.	0.619860	0.15228	N	0.273562	D	0.85801	0.5781	.	.	.	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.991;0.989	D;D;P;P	0.81914	0.924;0.995;0.842;0.863	D	0.86736	0.1951	9	0.87932	D	0	.	18.526	0.90973	0.0:0.0:1.0:0.0	.	1;1;1;1	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	I	1	ENSP00000410853:M1I;ENSP00000401982:M1I;ENSP00000361080:M1I;ENSP00000429113:M1I;ENSP00000361077:M1I;ENSP00000428921:M1I;ENSP00000353864:M1I;ENSP00000389172:M1I;ENSP00000262836:M1I	ENSP00000262836:M1I	M	+	3	0	PAK3	110252990	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.064000	0.93933	2.404000	0.81709	0.600000	0.82982	ATG		0.428	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	Missense_Mutation	13	166	0	0	0	1	0	13	166				
KLHL30	377007	broad.mit.edu	37	2	239049946	239049946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239049946C>T	ENST00000409223.1	+	2	658	c.551C>T	c.(550-552)gCc>gTc	p.A184V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A166V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	184	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACTTGTCTGGCCGGCGACCTG	0.687																																						ENST00000409223.1																			0				lung(4)	4						c.(550-552)gCc>gTc		kelch-like family member 30							12.0	16.0	14.0					2																	239049946		2065	4186	6251	SO:0001583	missense	377007							g.chr2:239049946C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.551C>T	2.37:g.239049946C>T	ENSP00000386389:p.Ala184Val					KLHL30_ENST00000305959.4_Missense_Mutation_p.A166V	p.A184V			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	658	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	184			BACK.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.551C>T	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145720	0.77888	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69435	-0.4;-0.4	5.82	4.93	0.64822	BTB/Kelch-associated (2);	0.345497	0.30446	N	0.009614	T	0.75019	0.3793	M	0.65975	2.015	0.27692	N	0.946091	P	0.48834	0.916	P	0.54060	0.741	T	0.71437	-0.4593	10	0.62326	D	0.03	.	14.2238	0.65845	0.0:0.7156:0.2844:0.0	.	184	Q0D2K2	KLH30_HUMAN	V	184;166	ENSP00000386389:A184V;ENSP00000302386:A166V	ENSP00000302386:A166V	A	+	2	0	KLHL30	238714685	0.996000	0.38824	0.994000	0.49952	0.920000	0.55202	2.897000	0.48664	1.420000	0.47138	0.655000	0.94253	GCC		0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		4	9	0	0	0	1	0	4	9				
USP10	9100	broad.mit.edu	37	16	84779110	84779110	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84779110C>A	ENST00000219473.7	+	4	1136	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	USP10_ENST00000570191.1_Silent_p.S345S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	341					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGCCCAAGTCCTGGGCCAGCC	0.572																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1021-1023)tcC>tcA		ubiquitin specific peptidase 10							25.0	28.0	27.0					16																	84779110		1925	4139	6064	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84779110C>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1023C>A	16.37:g.84779110C>A						USP10_ENST00000570191.1_Silent_p.S345S	p.S341S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	1136	+			341					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.1023C>A	CCDS45537.1																																																																																				0.572	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			3	12	1	0	0.004672	1	0.0049138	3	12				
SPAG5	10615	broad.mit.edu	37	17	26919664	26919664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919664G>T	ENST00000321765.5	-	3	930	c.598C>A	c.(598-600)Cat>Aat	p.H200N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	200					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTAAGAGATGGGACGGAGAT	0.498																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(598-600)Cat>Aat		sperm associated antigen 5							103.0	102.0	102.0					17																	26919664		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919664G>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.598C>A	17.37:g.26919664G>T	ENSP00000323300:p.His200Asn						p.H200N	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			3	930	-	Lung NSC(42;0.00431)		200					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.598C>A	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906996	0.02434	.	.	ENSG00000076382	ENST00000321765	T	0.23147	1.92	5.33	-0.579	0.11720	.	1.092890	0.07042	N	0.830363	T	0.21267	0.0512	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33803	-0.9854	10	0.19590	T	0.45	9.5778	3.9754	0.09472	0.3751:0.0:0.4574:0.1675	.	200	Q96R06	SPAG5_HUMAN	N	200	ENSP00000323300:H200N	ENSP00000323300:H200N	H	-	1	0	SPAG5	23943791	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.214000	0.17541	-0.348000	0.08286	-0.136000	0.14681	CAT		0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		26	35	1	0	1.38267e-23	1	1.83153e-23	26	35				
TRMT2B	79979	broad.mit.edu	37	X	100276145	100276145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100276145C>T	ENST00000372936.3	-	10	1783	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	TRMT2B_ENST00000545398.1_Silent_p.G337G|TRMT2B_ENST00000372939.1_Silent_p.G292G|TRMT2B_ENST00000478422.1_5'Flank|TRMT2B_ENST00000338687.7_Silent_p.G292G|TRMT2B_ENST00000372935.1_Silent_p.G337G|TRMT2B_ENST00000372931.5_Silent_p.G337G	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	337						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGTCAGCTCCCCCACAGTCC	0.512																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(874-876)ggG>ggA		tRNA methyltransferase 2 homolog B (S. cerevisiae)							125.0	101.0	109.0					X																	100276145		2203	4300	6503	SO:0001819	synonymous_variant	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100276145C>T	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1011G>A	X.37:g.100276145C>T						TRMT2B_ENST00000372939.1_Silent_p.G292G|TRMT2B_ENST00000372936.3_Silent_p.G337G|TRMT2B_ENST00000545398.1_Silent_p.G337G|TRMT2B_ENST00000372931.5_Silent_p.G337G|TRMT2B_ENST00000372935.1_Silent_p.G337G	p.G292G			Q96GJ1	TRM2_HUMAN			9	1681	-			337					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Silent	SNP	ENST00000372936.3	37	c.876G>A	CCDS14477.1																																																																																				0.512	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		31	34	0	0	0	1	0	31	34				
AGRN	375790	broad.mit.edu	37	1	986164	986164	+	Missense_Mutation	SNP	C	C	T	rs372565629		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:986164C>T	ENST00000379370.2	+	30	5250	c.5200C>T	c.(5200-5202)Cgc>Tgc	p.R1734C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1734	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H (in dbSNP:rs145444272). {ECO:0000269|PubMed:19631309}.		axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.R1734C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCGAAACGGCCGCAAGGGTGC	0.706																																						ENST00000379370.2																			1	Substitution - Missense(1)	p.R1734C(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5200-5202)Cgc>Tgc		agrin		C	CYS/ARG	0,4390		0,0,2195	20.0	26.0	24.0		5200	3.4	1.0	1		24	1,8573		0,1,4286	no	missense	AGRN	NM_198576.3	180	0,1,6481	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	1734/2046	986164	1,12963	2195	4287	6482	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:986164C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5200C>T	1.37:g.986164C>T	ENSP00000368678:p.Arg1734Cys						p.R1734C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	30	5250	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1734			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5200C>T	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.95|12.95	2.091357|2.091357	0.36855|0.36855	0.0|0.0	1.17E-4|1.17E-4	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|T	.|0.79033	.|-1.23	4.42|4.42	3.39|3.39	0.38822|0.38822	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.|0.000000	.|0.64402	.|U	.|0.000020	D|D	0.90373|0.90373	0.6987|0.6987	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.92777|0.92777	0.6237|0.6237	5|10	.|0.87932	.|D	.|0	-34.445|-34.445	13.304|13.304	0.60342|0.60342	0.1693:0.8307:0.0:0.0|0.1693:0.8307:0.0:0.0	.|.	.|1734	.|O00468	.|AGRIN_HUMAN	L|C	32|1734;73	.|ENSP00000368678:R1734C	.|ENSP00000368671:R73C	P|R	+|+	2|1	0|0	AGRN|AGRN	976027|976027	0.996000|0.996000	0.38824|0.38824	0.999000|0.999000	0.59377|0.59377	0.353000|0.353000	0.29299|0.29299	1.901000|1.901000	0.39838|0.39838	2.013000|2.013000	0.59113|0.59113	0.197000|0.197000	0.17608|0.17608	CCG|CGC		0.706	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		4	6	0	0	0	1	0	4	6				
TRIM60	166655	broad.mit.edu	37	4	165961663	165961663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:165961663A>G	ENST00000512596.1	+	3	655	c.439A>G	c.(439-441)Agc>Ggc	p.S147G	TRIM60_ENST00000341062.5_Missense_Mutation_p.S147G|TRIM60_ENST00000508504.1_Missense_Mutation_p.S147G	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	147						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTAGAAGGTAGCCTTGAGCC	0.393																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(439-441)Agc>Ggc		tripartite motif containing 60							64.0	63.0	64.0					4																	165961663		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165961663A>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.439A>G	4.37:g.165961663A>G	ENSP00000421142:p.Ser147Gly					TRIM60_ENST00000341062.5_Missense_Mutation_p.S147G|TRIM60_ENST00000508504.1_Missense_Mutation_p.S147G	p.S147G	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	655	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	147					Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.439A>G	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	a	7.751	0.703398	0.15172	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.57107	0.42;0.42;0.42	2.49	-3.74	0.04385	.	2.286360	0.02604	U	0.101397	T	0.32912	0.0845	L	0.38175	1.15	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.07888	-1.0749	10	0.17369	T	0.5	.	3.1894	0.06612	0.2693:0.0:0.1502:0.5805	.	147	Q495X7	TRI60_HUMAN	G	147	ENSP00000421142:S147G;ENSP00000426496:S147G;ENSP00000343765:S147G	ENSP00000343765:S147G	S	+	1	0	TRIM60	166181113	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.500000	0.06405	-0.816000	0.04340	0.533000	0.62120	AGC		0.393	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		4	57	0	0	0	1	0	4	57				
NFIX	4784	broad.mit.edu	37	19	13184288	13184288	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184288G>A	ENST00000592199.1	+	4	675	c.675G>A	c.(673-675)acG>acA	p.T225T	AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000358552.3_Silent_p.T224T|NFIX_ENST00000588228.1_Silent_p.T178T|NFIX_ENST00000397661.2_Silent_p.T225T|NFIX_ENST00000587760.1_Silent_p.T217T|NFIX_ENST00000585575.1_Silent_p.T217T|NFIX_ENST00000587260.1_Silent_p.T224T|NFIX_ENST00000360105.4_Silent_p.T228T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	225					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGAATGTGACGGAGCTGGTGA	0.532																																						ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(670-672)acG>acA		nuclear factor I/X (CCAAT-binding transcription factor)							140.0	134.0	136.0					19																	13184288		1970	4144	6114	SO:0001819	synonymous_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13184288G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.675G>A	19.37:g.13184288G>A						NFIX_ENST00000397661.2_Silent_p.T225T|NFIX_ENST00000587260.1_Silent_p.T224T|NFIX_ENST00000360105.4_Silent_p.T228T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000588228.1_Silent_p.T178T|NFIX_ENST00000592199.1_Silent_p.T225T|NFIX_ENST00000587760.1_Silent_p.T217T|NFIX_ENST00000585575.1_Silent_p.T217T	p.T224T			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		3	672	+			225					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37	c.672G>A																																																																																					0.532	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		21	33	0	0	0	1	0	21	33				
GRB7	2886	broad.mit.edu	37	17	37901696	37901696	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37901696C>A	ENST00000309156.4	+	11	1371	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	GRB7_ENST00000394209.2_Missense_Mutation_p.L372M|GRB7_ENST00000309185.3_Missense_Mutation_p.L372M|GRB7_ENST00000394204.1_Missense_Mutation_p.L372M|GRB7_ENST00000445327.2_Missense_Mutation_p.L395M|GRB7_ENST00000394211.3_Missense_Mutation_p.L372M	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	372					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATAATACCCTGGTGGCCAT	0.617																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1114-1116)Ctg>Atg		growth factor receptor-bound protein 7							69.0	64.0	66.0					17																	37901696		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901696C>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1114C>A	17.37:g.37901696C>A	ENSP00000310771:p.Leu372Met					GRB7_ENST00000309185.3_Missense_Mutation_p.L372M|GRB7_ENST00000445327.2_Missense_Mutation_p.L395M|GRB7_ENST00000394211.3_Missense_Mutation_p.L372M|GRB7_ENST00000394204.1_Missense_Mutation_p.L372M|GRB7_ENST00000394209.2_Missense_Mutation_p.L372M	p.L372M	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		11	1371	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		372					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1114C>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622009	0.46840	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.59502	0.26;1.43;1.43;1.43;1.41;0.26	5.88	3.9	0.45041	BPS (Between PH and SH2) domain (1);	0.068685	0.64402	D	0.000012	T	0.70064	0.3181	M	0.69358	2.11	0.47778	D	0.999515	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.68663	-0.5349	10	0.49607	T	0.09	-16.1925	8.4418	0.32820	0.0:0.7036:0.0:0.2964	.	372;372	Q14451-2;Q14451	.;GRB7_HUMAN	M	372;372;372;372;395;372	ENSP00000311752:L372M;ENSP00000310771:L372M;ENSP00000377761:L372M;ENSP00000377759:L372M;ENSP00000403459:L395M;ENSP00000377754:L372M	ENSP00000310771:L372M	L	+	1	2	GRB7	35155222	0.980000	0.34600	1.000000	0.80357	0.195000	0.23768	2.524000	0.45589	0.829000	0.34733	0.591000	0.81541	CTG		0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		6	54	1	0	3.59834e-05	1	4.01776e-05	6	54				
AGXT	189	broad.mit.edu	37	2	241817440	241817440	+	Splice_Site	SNP	C	C	T	rs574507041		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241817440C>T	ENST00000307503.3	+	10	1331	c.944C>T	c.(943-945)gCg>gTg	p.A315V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	315					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CTCCTGCAGGCGCTCCGGCTT	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16643	0.0		0.0	False		,,,				2504	0.0					ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.e10-1		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						32.0	32.0	32.0					2																	241817440		2203	4300	6503	SO:0001630	splice_region_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241817440C>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.943-1C>T	2.37:g.241817440C>T							p.A315_splice	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	10	1331	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	315					Q53QU6	Splice_Site	SNP	ENST00000307503.3	37	c.942_splice	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	C	6.868	0.529450	0.13127	.	.	ENSG00000172482	ENST00000307503	D	0.88124	-2.34	3.96	2.0	0.26442	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.490349	0.22119	N	0.064373	T	0.77778	0.4181	L	0.43923	1.385	0.31596	N	0.653336	P;B	0.38767	0.646;0.041	B;B	0.26416	0.069;0.006	T	0.74228	-0.3733	10	0.32370	T	0.25	-12.026	12.1517	0.54053	0.5542:0.4458:0.0:0.0	.	193;315	Q9UJX1;P21549	.;SPYA_HUMAN	V	315	ENSP00000302620:A315V	ENSP00000302620:A315V	A	+	2	0	AGXT	241466113	0.041000	0.20044	0.436000	0.26797	0.395000	0.30598	0.308000	0.19314	0.326000	0.23384	0.655000	0.94253	GCG		0.602	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	Missense_Mutation	14	21	0	0	0	1	0	14	21				
C18orf21	83608	broad.mit.edu	37	18	33557432	33557432	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33557432T>C	ENST00000592875.1	+	4	1006	c.360T>C	c.(358-360)ttT>ttC	p.F120F	C18orf21_ENST00000333234.5_Silent_p.F32F	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	120										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GTAGAAGCTTTGTGTCAACAT	0.393																																						ENST00000592875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						c.(358-360)ttT>ttC		chromosome 18 open reading frame 21							108.0	94.0	99.0					18																	33557432		2203	4300	6503	SO:0001819	synonymous_variant	83608							g.chr18:33557432T>C	BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.360T>C	18.37:g.33557432T>C						C18orf21_ENST00000333234.5_Silent_p.F32F	p.F120F	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN			4	1006	+			120					Q6GW03|Q9BXV6|Q9BXW2	Silent	SNP	ENST00000592875.1	37	c.360T>C	CCDS11916.2																																																																																				0.393	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		4	45	0	0	0	1	0	4	45				
GABRA3	2556	broad.mit.edu	37	X	151424261	151424261	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151424261G>T	ENST00000370314.4	-	5	778	c.540C>A	c.(538-540)ctC>ctA	p.L180L	GABRA3_ENST00000535043.1_Silent_p.L180L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	180				L -> P (in Ref. 3; AAH28629). {ECO:0000305}.	gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L180L(1)|p.L70L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCATTGTATAGAGGAGGGTTC	0.478																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			2	Substitution - coding silent(2)	p.L180L(1)|p.L70L(1)	lung(2)	breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(538-540)ctC>ctA		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						169.0	138.0	148.0					X																	151424261		2203	4300	6503	SO:0001819	synonymous_variant	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151424261G>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.540C>A	X.37:g.151424261G>T						GABRA3_ENST00000370311.1_Silent_p.L180L|GABRA3_ENST00000535043.1_Silent_p.L180L	p.L180L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			5	778	-	Acute lymphoblastic leukemia(192;6.56e-05)		180	L -> P (in Ref. 3; AAH28629).				Q8TAF9	Silent	SNP	ENST00000370314.4	37	c.540C>A	CCDS14706.1																																																																																				0.478	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		9	107	1	0	2.80697e-09	1	3.39963e-09	9	107				
GPBP1L1	60313	broad.mit.edu	37	1	46099286	46099286	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099286T>C	ENST00000290795.3	-	9	2140	c.919A>G	c.(919-921)Agc>Ggc	p.S307G	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Missense_Mutation_p.S307G			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	307					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CGAGAGGAGCTGATCTCAATT	0.517																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(919-921)Agc>Ggc		GC-rich promoter binding protein 1-like 1							79.0	72.0	74.0					1																	46099286		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46099286T>C		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.919A>G	1.37:g.46099286T>C	ENSP00000290795:p.Ser307Gly					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S307G|GPBP1L1_ENST00000479235.1_5'UTR	p.S307G	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			10	2279	-	Acute lymphoblastic leukemia(166;0.155)		307					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.919A>G	CCDS528.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579027	0.28180	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.23147	1.92;1.92	5.96	5.96	0.96718	.	0.240853	0.52532	D	0.000074	T	0.12008	0.0292	N	0.11560	0.145	0.31886	N	0.617765	B	0.11235	0.004	B	0.11329	0.006	T	0.20638	-1.0269	10	0.16420	T	0.52	-41.521	6.668	0.23052	0.1454:0.0725:0.0:0.7821	.	307	Q9HC44	GPBL1_HUMAN	G	307	ENSP00000290795:S307G;ENSP00000347224:S307G	ENSP00000290795:S307G	S	-	1	0	GPBP1L1	45871873	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.622000	0.54217	2.285000	0.76669	0.533000	0.62120	AGC		0.517	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		12	18	0	0	0	1	0	12	18				
SLK	9748	broad.mit.edu	37	10	105785379	105785379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105785379C>A	ENST00000369755.3	+	19	4154	c.3609C>A	c.(3607-3609)ttC>ttA	p.F1203L	SLK_ENST00000335753.4_Missense_Mutation_p.F1172L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1203					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAAGTATTCTTTAAAATGA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(3607-3609)ttC>ttA		STE20-like kinase							82.0	79.0	80.0					10																	105785379		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105785379C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3609C>A	10.37:g.105785379C>A	ENSP00000358770:p.Phe1203Leu					SLK_ENST00000335753.4_Missense_Mutation_p.F1172L	p.F1203L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	19	4154	+		Colorectal(252;0.178)	1203					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3609C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028561	0.75390	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.72167	-0.6;-0.63	5.53	5.53	0.82687	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80518	0.4638	L	0.58583	1.82	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.81086	-0.1092	10	0.59425	D	0.04	.	12.7594	0.57354	0.0:0.9251:0.0:0.0749	.	1172;1203	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	L	1172;1203	ENSP00000336824:F1172L;ENSP00000358770:F1203L	ENSP00000336824:F1172L	F	+	3	2	SLK	105775369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.379000	0.52440	2.606000	0.88127	0.561000	0.74099	TTC		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		5	60	1	0	0.184627	1	0.186383	5	60				
ATL3	25923	broad.mit.edu	37	11	63398565	63398565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63398565A>G	ENST00000398868.3	-	12	1762	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	ATL3_ENST00000332645.4_Missense_Mutation_p.Y523H|ATL3_ENST00000538786.1_Missense_Mutation_p.Y478H	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	496					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGCTCACGATATTGACCAGAA	0.483																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(1486-1488)Tat>Cat		atlastin GTPase 3							75.0	77.0	77.0					11																	63398565		2015	4176	6191	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63398565A>G		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1486T>C	11.37:g.63398565A>G	ENSP00000381844:p.Tyr496His					ATL3_ENST00000332645.4_Missense_Mutation_p.Y523H|ATL3_ENST00000538786.1_Missense_Mutation_p.Y478H	p.Y496H	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN			12	1762	-			496					Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.1486T>C	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960139	0.53400	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	D;D;D	0.91792	-2.91;-2.91;-2.91	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.89660	0.6779	L	0.55481	1.735	0.53688	D	0.999977	B	0.24920	0.114	B	0.24701	0.055	D	0.87203	0.2242	10	0.46703	T	0.11	-18.4825	13.151	0.59490	1.0:0.0:0.0:0.0	.	496	Q6DD88	ATLA3_HUMAN	H	496;523;478	ENSP00000381844:Y496H;ENSP00000329034:Y523H;ENSP00000437593:Y478H	ENSP00000329034:Y523H	Y	-	1	0	ATL3	63155141	1.000000	0.71417	0.959000	0.39883	0.791000	0.44710	9.339000	0.96797	1.997000	0.58415	0.533000	0.62120	TAT		0.483	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		4	38	0	0	0	1	0	4	38				
UHMK1	127933	broad.mit.edu	37	1	162470727	162470727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162470727G>A	ENST00000489294.1	+	3	744	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	UHMK1_ENST00000545294.1_Missense_Mutation_p.G122R|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.G196R	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGACAGACGGGTATCGGGC	0.423																																						ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(586-588)Ggg>Agg		U2AF homology motif (UHM) kinase 1							85.0	81.0	82.0					1																	162470727		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162470727G>A	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.586G>A	1.37:g.162470727G>A	ENSP00000420270:p.Gly196Arg					UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.G196R|UHMK1_ENST00000545294.1_Missense_Mutation_p.G122R	p.G196R	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	744	+	all_hematologic(112;0.115)		196			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.586G>A	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.334883	0.41297	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.63744	-0.06;-0.06;-0.06	5.12	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	L	0.41415	1.275	.	.	.	D;B;B	0.89917	1.0;0.068;0.049	D;B;B	0.73708	0.981;0.022;0.007	T	0.64037	-0.6501	9	0.44086	T	0.13	-0.6539	12.0549	0.53529	0.0:0.0:0.8273:0.1727	.	196;196;122	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	R	122;196;196	ENSP00000441226:G122R;ENSP00000446416:G196R;ENSP00000420270:G196R	ENSP00000420270:G196R	G	+	1	0	UHMK1	160737351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.675000	0.91195	1.450000	0.47717	0.650000	0.86243	GGG		0.423	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		15	29	0	0	0	1	0	15	29				
PDILT	204474	broad.mit.edu	37	16	20410477	20410477	+	Missense_Mutation	SNP	G	G	A	rs143235162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20410477G>A	ENST00000302451.4	-	2	394	c.146C>T	c.(145-147)aCg>aTg	p.T49M		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	49					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCAGCGGGCGTTAGCACTAG	0.572																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(145-147)aCg>aTg		protein disulfide isomerase-like, testis expressed		G	MET/THR	0,4406		0,0,2203	138.0	125.0	130.0		146	4.2	0.5	16	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	no	missense	PDILT	NM_174924.1	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	49/585	20410477	2,13004	2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410477G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.146C>T	16.37:g.20410477G>A	ENSP00000305465:p.Thr49Met						p.T49M	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			2	394	-			49					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.146C>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985577	0.74589	0.0	2.33E-4	ENSG00000169340	ENST00000302451	T	0.04234	3.67	4.21	4.21	0.49690	Thioredoxin-like fold (2);	0.226572	0.44688	D	0.000429	T	0.18087	0.0434	M	0.69523	2.12	0.28165	N	0.928829	D	0.89917	1.0	D	0.73380	0.98	T	0.00417	-1.1752	10	0.72032	D	0.01	.	12.3542	0.55165	0.0:0.0:1.0:0.0	.	49	Q8N807	PDILT_HUMAN	M	49	ENSP00000305465:T49M	ENSP00000305465:T49M	T	-	2	0	PDILT	20317978	0.916000	0.31088	0.452000	0.26994	0.561000	0.35649	2.222000	0.42926	2.623000	0.88846	0.591000	0.81541	ACG		0.572	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		48	66	0	0	0	1	0	48	66				
SLC27A5	10998	broad.mit.edu	37	19	59022198	59022198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59022198G>A	ENST00000263093.2	-	2	897	c.788C>T	c.(787-789)gCt>gTt	p.A263V	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A179V	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	263					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCCCCAGAGCCCCCACCCC	0.637																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(787-789)gCt>gTt		solute carrier family 27 (fatty acid transporter), member 5							31.0	32.0	32.0					19																	59022198		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59022198G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.788C>T	19.37:g.59022198G>A	ENSP00000263093:p.Ala263Val					SLC27A5_ENST00000601355.1_Missense_Mutation_p.A179V	p.A263V	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	2	897	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	263					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.788C>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	g	14.65	2.597268	0.46318	.	.	ENSG00000083807	ENST00000263093	T	0.40225	1.04	4.74	4.74	0.60224	AMP-dependent synthetase/ligase (1);	0.497424	0.22015	N	0.065820	T	0.50017	0.1591	M	0.73962	2.25	0.28528	N	0.91272	B	0.26318	0.146	B	0.36186	0.219	T	0.53655	-0.8408	10	0.59425	D	0.04	-12.6075	13.9427	0.64066	0.0:0.0:1.0:0.0	.	263	Q9Y2P5	S27A5_HUMAN	V	263	ENSP00000263093:A263V	ENSP00000263093:A263V	A	-	2	0	SLC27A5	63714010	0.972000	0.33761	0.980000	0.43619	0.518000	0.34316	2.893000	0.48633	2.574000	0.86865	0.491000	0.48974	GCT		0.637	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		5	11	0	0	0	1	0	5	11				
CLCN5	1184	broad.mit.edu	37	X	49846431	49846431	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49846431T>G	ENST00000307367.2	+	6	941	c.650T>G	c.(649-651)gTg>gGg	p.V217G	CLCN5_ENST00000376088.3_Missense_Mutation_p.V287G|CLCN5_ENST00000376091.3_Missense_Mutation_p.V287G|CLCN5_ENST00000376108.3_Missense_Mutation_p.V217G			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	217					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTAGTGCACGTGGCTTGCTGC	0.507																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(859-861)gTg>gGg		chloride channel, voltage-sensitive 5							143.0	106.0	118.0					X																	49846431		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49846431T>G	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.650T>G	X.37:g.49846431T>G	ENSP00000304257:p.Val217Gly					CLCN5_ENST00000376108.3_Missense_Mutation_p.V217G|CLCN5_ENST00000376091.3_Missense_Mutation_p.V287G|CLCN5_ENST00000307367.2_Missense_Mutation_p.V217G	p.V287G	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			9	1501	+	Ovarian(276;0.236)		217					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.860T>G	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701717	0.88924	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	6.08	6.08	0.98989	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.80764	0.905;0.994	D	0.97922	1.0315	10	0.87932	D	0	-50.7979	14.3879	0.66958	0.0:0.0:0.0:1.0	.	217;287	P51795;P51795-2	CLCN5_HUMAN;.	G	287;119;287;217;217	ENSP00000365256:V287G;ENSP00000365259:V287G;ENSP00000365276:V217G;ENSP00000304257:V217G	ENSP00000304257:V217G	V	+	2	0	CLCN5	49733171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.910000	0.87451	2.044000	0.60594	0.486000	0.48141	GTG		0.507	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			29	39	0	0	0	1	0	29	39				
PARD6G	84552	broad.mit.edu	37	18	77918260	77918260	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77918260G>A	ENST00000353265.3	-	3	722	c.525C>T	c.(523-525)cgC>cgT	p.R175R	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	175	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TGGCGCCATCGCGGATGTAGA	0.697																																						ENST00000353265.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(523-525)cgC>cgT		par-6 family cell polarity regulator gamma							15.0	16.0	16.0					18																	77918260		2192	4291	6483	SO:0001819	synonymous_variant	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77918260G>A		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.525C>T	18.37:g.77918260G>A						AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron	p.R175R	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	722	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	175			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A8QM57	Silent	SNP	ENST00000353265.3	37	c.525C>T	CCDS12022.1																																																																																				0.697	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		5	8	0	0	0	1	0	5	8				
TMEM38B	55151	broad.mit.edu	37	9	108483913	108483913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108483913G>A	ENST00000374692.3	+	3	482	c.365G>A	c.(364-366)aGa>aAa	p.R122K	TMEM38B_ENST00000374688.1_Missense_Mutation_p.R68K	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	122						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAAGTGACCAGAACTTGGAAA	0.418																																						ENST00000374688.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(202-204)aGa>aAa		transmembrane protein 38B							95.0	87.0	90.0					9																	108483913		2203	4300	6503	SO:0001583	missense	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108483913G>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.365G>A	9.37:g.108483913G>A	ENSP00000363824:p.Arg122Lys					TMEM38B_ENST00000374692.3_Missense_Mutation_p.R122K	p.R68K			Q9NVV0	TM38B_HUMAN			3	913	+			122					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	c.203G>A	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.323742|5.323742	0.95708|0.95708	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000435034|ENST00000374692;ENST00000374688	.|T;T	.|0.62788	.|0.29;0.0	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81602|0.81602	0.4857|0.4857	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	T|T	0.83021|0.83021	-0.0167|-0.0167	5|10	.|0.62326	.|D	.|0.03	-16.4698|-16.4698	18.9027|18.9027	0.92449|0.92449	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|122	.|Q9NVV0	.|TM38B_HUMAN	K|K	59|122;68	.|ENSP00000363824:R122K;ENSP00000363820:R68K	.|ENSP00000363820:R68K	E|R	+|+	1|2	0|0	TMEM38B|TMEM38B	107523734|107523734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.885000|8.885000	0.92439|0.92439	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.418	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		20	43	0	0	0	1	0	20	43				
SVEP1	79987	broad.mit.edu	37	9	113212497	113212497	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113212497T>G	ENST00000401783.2	-	24	4281	c.3945A>C	c.(3943-3945)ccA>ccC	p.P1315P	SVEP1_ENST00000302728.8_Silent_p.P1315P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.P1292P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1315	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATTTAAGCATGGGTTTGACT	0.468																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3943-3945)ccA>ccC		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							135.0	127.0	130.0					9																	113212497		1884	4105	5989	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113212497T>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3945A>C	9.37:g.113212497T>G						SVEP1_ENST00000302728.8_Silent_p.P1315P|SVEP1_ENST00000374469.1_Silent_p.P1292P|SVEP1_ENST00000467821.1_5'UTR	p.P1315P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			24	4281	-			1315			EGF-like 4; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.3945A>C	CCDS48004.1																																																																																				0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				40	54	0	0	0	1	0	40	54				
MRPL41	64975	broad.mit.edu	37	9	140446582	140446582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140446582C>T	ENST00000371443.5	+	2	837	c.49C>T	c.(49-51)Cga>Tga	p.R17*	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	17					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GGGTGCGGACCGAATGAGCAA	0.751																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(49-51)Cga>Tga		mitochondrial ribosomal protein L41							15.0	18.0	17.0					9																	140446582		2197	4290	6487	SO:0001587	stop_gained	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446582C>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.49C>T	9.37:g.140446582C>T	ENSP00000360498:p.Arg17*						p.R17*	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	837	+	all_cancers(76;0.106)		17					Q96Q49	Nonsense_Mutation	SNP	ENST00000371443.5	37	c.49C>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	C	40	8.282029	0.98740	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.03	-2.57	0.06248	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9473	0.86232	0.7631:0.2369:0.0:0.0	.	.	.	.	X	17	.	ENSP00000360498:R17X	R	+	1	2	MRPL41	139566403	0.869000	0.29996	0.379000	0.26080	0.086000	0.17979	-0.041000	0.12084	-0.242000	0.09667	-0.532000	0.04303	CGA		0.751	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		6	19	0	0	0	1	0	6	19				
LRRC4C	57689	broad.mit.edu	37	11	40137065	40137065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137065G>A	ENST00000278198.2	-	2	2741	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R260W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	260					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGCATTCCGTTCAATCACT	0.448																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(778-780)Cgg>Tgg		leucine rich repeat containing 4C							139.0	112.0	121.0					11																	40137065		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137065G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.778C>T	11.37:g.40137065G>A	ENSP00000278198:p.Arg260Trp					LRRC4C_ENST00000530763.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R260W	p.R260W			Q9HCJ2	LRC4C_HUMAN			2	2741	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	260					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.778C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223155	0.39300	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.44	0.0964	0.14490	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.58669	1.825	0.58432	D	0.999992	D	0.89917	1.0	D	0.73380	0.98	T	0.69209	-0.5205	10	0.72032	D	0.01	.	15.6203	0.76802	0.0:0.0:0.2112:0.7888	.	260	Q9HCJ2	LRC4C_HUMAN	W	260	ENSP00000278198:R260W;ENSP00000436976:R260W;ENSP00000437132:R260W;ENSP00000434761:R260W	ENSP00000278198:R260W	R	-	1	2	LRRC4C	40093641	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	2.118000	0.41949	-0.032000	0.13758	-0.188000	0.12872	CGG		0.448	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		47	62	0	0	0	1	0	47	62				
UGT2A3	79799	broad.mit.edu	37	4	69795536	69795536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69795536C>T	ENST00000251566.4	-	6	1609	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238K	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	527					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGATCTATTCCCTCTTTTCT	0.333																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1579-1581)Gaa>Aaa		UDP glucuronosyltransferase 2 family, polypeptide A3							32.0	35.0	34.0					4																	69795536		2202	4290	6492	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795536C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1579G>A	4.37:g.69795536C>T	ENSP00000251566:p.Glu527Lys					UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238K	p.E527K	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1609	-			527					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1579G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053587	0.19907	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.81330	0.18;-1.48	1.36	0.466	0.16716	.	0.872875	0.09679	N	0.769964	T	0.71484	0.3345	L	0.60455	1.87	0.22511	N	0.999036	B	0.27498	0.18	B	0.23150	0.044	T	0.56631	-0.7947	10	0.33141	T	0.24	.	3.765	0.08619	0.0:0.7429:0.0:0.2571	.	527	Q6UWM9	UD2A3_HUMAN	K	527;238	ENSP00000251566:E527K;ENSP00000440115:E238K	ENSP00000251566:E527K	E	-	1	0	UGT2A3	69830125	0.280000	0.24249	0.050000	0.19076	0.259000	0.26198	1.549000	0.36212	0.151000	0.19162	0.313000	0.20887	GAA		0.333	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		20	46	0	0	0	1	0	20	46				
HERC5	51191	broad.mit.edu	37	4	89425652	89425652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89425652C>T	ENST00000264350.3	+	22	2926	c.2773C>T	c.(2773-2775)Cgt>Tgt	p.R925C	HERC5_ENST00000508159.1_Missense_Mutation_p.R563C	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	925	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTAGAATGCACGTTATGAACC	0.323																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2773-2775)Cgt>Tgt		HECT and RLD domain containing E3 ubiquitin protein ligase 5							75.0	75.0	75.0					4																	89425652		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89425652C>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2773C>T	4.37:g.89425652C>T	ENSP00000264350:p.Arg925Cys					HERC5_ENST00000508159.1_Missense_Mutation_p.R563C	p.R925C	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	22	2926	+		Hepatocellular(203;0.114)	925			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2773C>T	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	8.962	0.970924	0.18659	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.59502	0.26;0.26	4.62	-6.23	0.02052	HECT (4);	2.620530	0.01393	N	0.013309	T	0.46386	0.1390	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28964	-1.0027	10	0.56958	D	0.05	.	0.445	0.00492	0.3188:0.1305:0.186:0.3647	.	925	Q9UII4	HERC5_HUMAN	C	925;563	ENSP00000264350:R925C;ENSP00000424129:R563C	ENSP00000264350:R925C	R	+	1	0	HERC5	89644675	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	-2.208000	0.01229	-0.852000	0.04141	-0.119000	0.15052	CGT		0.323	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		16	28	0	0	0	1	0	16	28				
CELSR3	1951	broad.mit.edu	37	3	48697457	48697457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48697457G>A	ENST00000164024.4	-	1	2891	c.2611C>T	c.(2611-2613)Cgg>Tgg	p.R871W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R871W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	871	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		cccattggccgatcttcattc	0.507																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2611-2613)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							133.0	119.0	124.0					3																	48697457		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697457G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2611C>T	3.37:g.48697457G>A	ENSP00000164024:p.Arg871Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R871W	p.R871W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2891	-			871			Cadherin 6.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2611C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029665	0.19512	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01804	4.63;4.63	5.52	3.54	0.40534	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.02083	0.0065	L	0.27053	0.805	0.45806	D	0.998682	B;B	0.20671	0.007;0.047	B;B	0.27715	0.082;0.012	T	0.55522	-0.8128	9	0.66056	D	0.02	.	11.9796	0.53113	0.0702:0.0:0.8:0.1298	.	871;941	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	W	871	ENSP00000164024:R871W;ENSP00000445694:R871W	ENSP00000164024:R871W	R	-	1	2	CELSR3	48672461	0.983000	0.35010	0.993000	0.49108	0.766000	0.43426	1.621000	0.36986	1.351000	0.45789	0.561000	0.74099	CGG		0.507	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		24	34	0	0	0	1	0	24	34				
SLC30A5	64924	broad.mit.edu	37	5	68412312	68412312	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68412312G>T	ENST00000396591.3	+	10	1774	c.1164G>T	c.(1162-1164)atG>atT	p.M388I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	388					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATAACTTCATGGGTGATGCTT	0.388																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1162-1164)atG>atT		solute carrier family 30 (zinc transporter), member 5							88.0	92.0	91.0					5																	68412312		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68412312G>T	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1164G>T	5.37:g.68412312G>T	ENSP00000379836:p.Met388Ile					CTC-498J12.3_ENST00000504129.1_RNA	p.M388I	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	10	1774	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	388					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.1164G>T	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550229	0.65311	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.63580	-0.05	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.57536	1.79	0.80722	D	1	P;P;P	0.43287	0.632;0.802;0.632	B;B;B	0.40477	0.316;0.33;0.316	T	0.57412	-0.7816	10	0.21014	T	0.42	.	20.1777	0.98189	0.0:0.0:1.0:0.0	.	217;217;388	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	I	388;1	ENSP00000379836:M388I	ENSP00000379836:M388I	M	+	3	0	SLC30A5	68448068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	ATG		0.388	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			10	72	1	0	4.68919e-08	1	5.58064e-08	10	72				
PARD3	56288	broad.mit.edu	37	10	34688290	34688290	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34688290G>A	ENST00000374789.3	-	7	1183	c.858C>T	c.(856-858)atC>atT	p.I286I	PARD3_ENST00000545260.1_Silent_p.I242I|PARD3_ENST00000346874.4_Silent_p.I286I|PARD3_ENST00000545693.1_Silent_p.I286I|PARD3_ENST00000374794.3_Silent_p.I242I|PARD3_ENST00000374788.3_Silent_p.I286I|PARD3_ENST00000544292.1_Silent_p.I16I|PARD3_ENST00000374773.1_Silent_p.I286I|PARD3_ENST00000374776.1_Silent_p.I286I|PARD3_ENST00000340077.5_Silent_p.I286I|PARD3_ENST00000350537.4_Silent_p.I286I|PARD3_ENST00000374790.3_Silent_p.I242I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	286	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCACTACGTGGATTCCCAGAG	0.433																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(856-858)atC>atT		par-3 family cell polarity regulator							147.0	143.0	144.0					10																	34688290		2203	4300	6503	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34688290G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.858C>T	10.37:g.34688290G>A						PARD3_ENST00000374794.3_Silent_p.I242I|PARD3_ENST00000340077.5_Silent_p.I286I|PARD3_ENST00000350537.4_Silent_p.I286I|PARD3_ENST00000346874.4_Silent_p.I286I|PARD3_ENST00000544292.1_Silent_p.I16I|PARD3_ENST00000374776.1_Silent_p.I286I|PARD3_ENST00000545693.1_Silent_p.I286I|PARD3_ENST00000374790.3_Silent_p.I242I|PARD3_ENST00000374773.1_Silent_p.I286I|PARD3_ENST00000545260.1_Silent_p.I242I|PARD3_ENST00000374788.3_Silent_p.I286I	p.I286I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			7	1183	-		Breast(68;0.0707)	286			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.858C>T	CCDS7178.1																																																																																				0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		8	92	0	0	0	1	0	8	92				
EPS8L1	54869	broad.mit.edu	37	19	55597258	55597258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55597258G>T	ENST00000201647.6	+	15	1491	c.1435G>T	c.(1435-1437)Gca>Tca	p.A479S	EPS8L1_ENST00000540810.1_Missense_Mutation_p.A415S|EPS8L1_ENST00000588359.1_Missense_Mutation_p.A165S|EPS8L1_ENST00000245618.5_Missense_Mutation_p.A352S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.A493S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	479	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCAGAGACAGCAGGAAAATG	0.577																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1435-1437)Gca>Tca		EPS8-like 1							72.0	73.0	72.0					19																	55597258		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55597258G>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1435G>T	19.37:g.55597258G>T	ENSP00000201647:p.Ala479Ser					EPS8L1_ENST00000245618.5_Missense_Mutation_p.A352S|EPS8L1_ENST00000588359.1_Missense_Mutation_p.A165S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.A415S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.A493S	p.A479S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	15	1491	+			479			SH3.		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1435G>T	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214110	0.22289	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.28666	1.6;1.6;1.6	4.37	2.15	0.27550	Src homology-3 domain (2);	1.187280	0.06021	N	0.651321	T	0.28896	0.0717	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.27316	0.13;0.076;0.175;0.004	B;B;B;B	0.34722	0.056;0.067;0.188;0.003	T	0.34551	-0.9824	10	0.09338	T	0.73	-8.9271	12.6484	0.56748	0.0:0.3151:0.6848:0.0	.	493;258;352;479	Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	S	493;479;415;352;165	ENSP00000201647:A479S;ENSP00000437541:A415S;ENSP00000245618:A352S	ENSP00000201647:A479S	A	+	1	0	EPS8L1	60289070	0.138000	0.22547	0.014000	0.15608	0.105000	0.19272	2.103000	0.41806	0.393000	0.25203	-1.344000	0.01245	GCA		0.577	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		12	22	1	0	4.3838e-07	1	5.12524e-07	12	22				
KRIT1	889	broad.mit.edu	37	7	91844019	91844019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91844019C>A	ENST00000340022.2	-	15	2654	c.1636G>T	c.(1636-1638)Gct>Tct	p.A546S	KRIT1_ENST00000394505.2_Missense_Mutation_p.A546S|KRIT1_ENST00000394503.2_Missense_Mutation_p.A498S|KRIT1_ENST00000412043.2_Missense_Mutation_p.A546S|KRIT1_ENST00000394507.1_Missense_Mutation_p.A546S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	546	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATCAGGAGCTGTATAAAAG	0.328																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(1636-1638)Gct>Tct		KRIT1, ankyrin repeat containing							76.0	77.0	76.0					7																	91844019		2203	4296	6499	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91844019C>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1636G>T	7.37:g.91844019C>A	ENSP00000344668:p.Ala546Ser					KRIT1_ENST00000340022.2_Missense_Mutation_p.A546S|KRIT1_ENST00000412043.2_Missense_Mutation_p.A546S|KRIT1_ENST00000394503.2_Missense_Mutation_p.A498S|KRIT1_ENST00000394505.2_Missense_Mutation_p.A546S	p.A546S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	2419	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		546			FERM.|Required for RAP1A binding.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.1636G>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565950	0.27915	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.54	4.54	0.55810	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.186812	0.48286	D	0.000190	T	0.52008	0.1708	N	0.01874	-0.695	0.45342	D	0.998332	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.50816	-0.8783	10	0.22706	T	0.39	-4.7526	13.499	0.61442	0.2304:0.7696:0.0:0.0	.	546;498;546	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	S	546;546;546;546;498;546	ENSP00000378015:A546S;ENSP00000344668:A546S;ENSP00000410909:A546S;ENSP00000378013:A546S;ENSP00000378011:A498S	ENSP00000344668:A546S	A	-	1	0	KRIT1	91681955	0.979000	0.34478	1.000000	0.80357	0.856000	0.48823	2.489000	0.45285	2.758000	0.94735	0.591000	0.81541	GCT		0.328	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			25	59	1	0	2.98393e-07	1	3.50693e-07	25	59				
MACF1	23499	broad.mit.edu	37	1	39835840	39835840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39835840G>A	ENST00000372915.3	+	50	13179	c.13092G>A	c.(13090-13092)aaG>aaA	p.K4364K	MACF1_ENST00000567887.1_Silent_p.K4396K|MACF1_ENST00000361689.2_Silent_p.K2297K|MACF1_ENST00000317713.7_Silent_p.K2297K|MACF1_ENST00000539005.1_Silent_p.K2297K|MACF1_ENST00000564288.1_Silent_p.K4359K|MACF1_ENST00000289893.4_Silent_p.K2799K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Silent_p.K2297K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4364					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTAGAAAAGCAGATTGAAC	0.453																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13075-13077)aaG>aaA		microtubule-actin crosslinking factor 1							59.0	59.0	59.0					1																	39835840		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39835840G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13092G>A	1.37:g.39835840G>A						MACF1_ENST00000545844.1_Silent_p.K2297K|MACF1_ENST00000289893.4_Silent_p.K2799K|MACF1_ENST00000567887.1_Silent_p.K4396K|MACF1_ENST00000372915.3_Silent_p.K4364K|MACF1_ENST00000317713.7_Silent_p.K2297K|MACF1_ENST00000361689.2_Silent_p.K2297K|MACF1_ENST00000539005.1_Silent_p.K2297K|MACF1_ENST00000476350.1_3'UTR	p.K4359K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		51	13854	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4364					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.13077G>A		.	.	.	.	.	.	.	.	.	.	G	7.799	0.713205	0.15306	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.23	1.15	0.20763	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49103	-0.8974	4	.	.	.	.	9.2685	0.37657	0.271:0.0:0.729:0.0	.	.	.	.	T	1431	.	.	A	+	1	0	MACF1	39608427	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	0.871000	0.28023	-0.041000	0.13558	0.561000	0.74099	GCA		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	24	0	0	0	1	0	3	24				
CNBP	7555	broad.mit.edu	37	3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A	rs190320743		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(505-507)Cgg>Tgg		CCHC-type zinc finger, nucleic acid binding protein							177.0	165.0	169.0					3																	128889325		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128889325G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.505C>T	3.37:g.128889325G>A	ENSP00000410619:p.Arg169Trp					CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W	p.R169W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			5	665	-			169					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.505C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570676	0.65765	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.128051	0.52532	D	0.000070	D	0.83589	0.5287	M	0.82823	2.61	0.58432	D	0.999993	D;D;D	0.76494	0.994;0.993;0.999	P;P;D	0.72338	0.837;0.821;0.977	D	0.84859	0.0818	9	0.87932	D	0	-16.7435	18.1659	0.89727	0.0:0.0:1.0:0.0	.	152;162;169	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	W	162;169;170;164;152;159;171	.	ENSP00000410619:R169W	R	-	1	2	CNBP	130372015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.894000	0.99253	0.591000	0.81541	CGG		0.448	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		14	163	0	0	0	1	0	14	163				
FAM98A	25940	broad.mit.edu	37	2	33810031	33810031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33810031G>A	ENST00000238823.8	-	8	1509	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.R262C			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	458	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ccaccaccacgatcaccaTGG	0.582																																						ENST00000238823.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(1369-1371)Cgt>Tgt		family with sequence similarity 98, member A							152.0	124.0	134.0					2																	33810031		2203	4300	6503	SO:0001583	missense	25940							g.chr2:33810031G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1369C>T	2.37:g.33810031G>A	ENSP00000238823:p.Arg457Cys					FAM98A_ENST00000441530.2_Missense_Mutation_p.R262C|FAM98A_ENST00000403368.1_3'UTR	p.R457C			Q8NCA5	FA98A_HUMAN			8	1509	-	all_hematologic(175;0.115)		458			Gly-rich.		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.1369C>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	5.956	0.360323	0.11296	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;T	0.52526	0.66;0.72	6.06	3.29	0.37713	.	0.000000	0.64402	D	0.000001	T	0.31104	0.0786	N	0.08118	0	0.52099	D	0.999948	D;D;D;D	0.71674	0.998;0.998;0.996;0.998	P;P;P;P	0.47573	0.483;0.483;0.55;0.483	T	0.15723	-1.0427	10	0.72032	D	0.01	-8.5916	8.6368	0.33953	0.1294:0.0:0.7446:0.1259	.	458;288;457;295	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	C	457;458;262	ENSP00000238823:R457C;ENSP00000408716:R262C	ENSP00000238823:R457C	R	-	1	0	FAM98A	33663535	1.000000	0.71417	0.738000	0.30950	0.032000	0.12392	5.770000	0.68873	0.446000	0.26666	-0.181000	0.13052	CGT		0.582	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		27	48	0	0	0	1	0	27	48				
IMMT	10989	broad.mit.edu	37	2	86378642	86378642	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86378642A>G	ENST00000410111.3	-	12	1566	c.1179T>C	c.(1177-1179)gcT>gcC	p.A393A	IMMT_ENST00000409051.2_Splice_Site_p.A346A|IMMT_ENST00000442664.2_Splice_Site_p.A392A|IMMT_ENST00000449247.2_Splice_Site_p.A382A|IMMT_ENST00000254636.5_Splice_Site_p.A294A	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	393				SVSDLA -> T (in Ref. 9; AAF73126). {ECO:0000305}.	mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCTTGTCAGCTAAGCAAA	0.388																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e12-1		inner membrane protein, mitochondrial							83.0	71.0	75.0					2																	86378642		1939	4153	6092	SO:0001630	splice_region_variant	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86378642A>G	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1178-1T>C	2.37:g.86378642A>G						IMMT_ENST00000254636.5_Splice_Site_p.A294_splice|IMMT_ENST00000409051.2_Splice_Site_p.A346_splice|IMMT_ENST00000449247.2_Splice_Site_p.A382_splice|IMMT_ENST00000442664.2_Splice_Site_p.A392_splice	p.A393_splice	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			12	1566	-			393	SVSDLA -> T (in Ref. 9; AAF73126).				B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Splice_Site	SNP	ENST00000410111.3	37	c.1177_splice	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	2.867	-0.234929	0.05983	.	.	ENSG00000132305	ENST00000419070	.	.	.	5.72	-1.03	0.10102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4672	0.21987	0.4645:0.2203:0.3153:0.0	.	.	.	.	R	248	.	.	X	-	1	0	IMMT	86232153	0.108000	0.22018	0.994000	0.49952	0.120000	0.20174	-0.235000	0.09016	-0.113000	0.11958	-0.256000	0.11100	TGA		0.388	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	Silent	4	25	0	0	0	1	0	4	25				
SV2B	9899	broad.mit.edu	37	15	91809856	91809856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91809856G>T	ENST00000394232.1	+	7	1523	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	SV2B_ENST00000545111.2_Missense_Mutation_p.E200D|SV2B_ENST00000330276.4_Missense_Mutation_p.E351D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	351					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AATTCATTGAGATCCAAAGTT	0.408																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1051-1053)gaG>gaT		synaptic vesicle glycoprotein 2B							83.0	84.0	83.0					15																	91809856		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91809856G>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1053G>T	15.37:g.91809856G>T	ENSP00000377779:p.Glu351Asp					SV2B_ENST00000545111.2_Missense_Mutation_p.E200D|SV2B_ENST00000330276.4_Missense_Mutation_p.E351D	p.E351D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		7	1523	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		351					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1053G>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839685	0.51057	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.63096	0.04;-0.02;-0.02	5.44	3.23	0.37069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.48877	1.53	0.58432	D	0.999995	B	0.15141	0.012	B	0.25614	0.062	T	0.47045	-0.9147	10	0.33940	T	0.23	-26.4159	7.0167	0.24892	0.3286:0.0:0.6714:0.0	.	351	Q7L1I2	SV2B_HUMAN	D	200;351;351	ENSP00000443243:E200D;ENSP00000377779:E351D;ENSP00000332818:E351D	ENSP00000332818:E351D	E	+	3	2	SV2B	89610860	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.434000	0.34958	1.306000	0.44926	0.655000	0.94253	GAG		0.408	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		7	63	1	0	7.48243e-07	1	8.70085e-07	7	63				
MRPS2	51116	broad.mit.edu	37	9	138395863	138395863	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395863C>G	ENST00000371785.1	+	5	984	c.775C>G	c.(775-777)Cgg>Ggg	p.R259G	C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Missense_Mutation_p.R259G|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	259					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GGCCATCACCCGGGCCAAGGA	0.652																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(775-777)Cgg>Ggg		mitochondrial ribosomal protein S2							55.0	63.0	60.0					9																	138395863		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395863C>G	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.775C>G	9.37:g.138395863C>G	ENSP00000360850:p.Arg259Gly					MRPS2_ENST00000241600.5_Missense_Mutation_p.R259G|RP11-426A6.5_ENST00000415062.1_RNA	p.R259G			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	984	+			259					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.775C>G	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806259	0.50421	.	.	ENSG00000122140	ENST00000371785;ENST00000241600	T;T	0.23754	1.89;1.89	4.94	4.02	0.46733	Ribosomal protein S2, flavodoxin-like domain (1);	0.061433	0.64402	D	0.000006	T	0.51466	0.1676	M	0.79693	2.465	0.53005	D	0.999968	D	0.89917	1.0	D	0.79108	0.992	T	0.56288	-0.8004	10	0.62326	D	0.03	-31.5551	12.9131	0.58190	0.1694:0.8306:0.0:0.0	.	259	Q9Y399	RT02_HUMAN	G	259	ENSP00000360850:R259G;ENSP00000241600:R259G	ENSP00000241600:R259G	R	+	1	2	MRPS2	137535684	0.933000	0.31639	0.535000	0.28026	0.312000	0.27988	1.284000	0.33249	1.020000	0.39573	0.655000	0.94253	CGG		0.652	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			3	40	0	0	0	1	0	3	40				
CCNJ	54619	broad.mit.edu	37	10	97817680	97817680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97817680G>A	ENST00000265992.5	+	6	1168	c.801G>A	c.(799-801)caG>caA	p.Q267Q	CCNJ_ENST00000534974.1_Silent_p.Q267Q|CCNJ_ENST00000403870.3_Silent_p.Q266Q|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000465148.2_Silent_p.Q278Q	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	267						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAGCCTCCCAGCCATCACGGC	0.498																																						ENST00000265992.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(799-801)caG>caA		cyclin J							215.0	180.0	192.0					10																	97817680		2203	4300	6503	SO:0001819	synonymous_variant	54619					nucleus		g.chr10:97817680G>A	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.801G>A	10.37:g.97817680G>A						ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000465148.2_Silent_p.Q278Q|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000534974.1_Silent_p.Q267Q|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Silent_p.Q266Q	p.Q267Q	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	6	1168	+			267					B7Z4E7|Q86XL1|Q9NV69	Silent	SNP	ENST00000265992.5	37	c.801G>A	CCDS7445.1																																																																																				0.498	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		29	47	0	0	0	1	0	29	47				
DDX26B	203522	broad.mit.edu	37	X	134711196	134711196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711196C>T	ENST00000370752.4	+	14	2186	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	618										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCAACAGTCCTATGTCATC	0.468																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1852-1854)Cct>Tct		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							232.0	197.0	209.0					X																	134711196		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134711196C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1852C>T	X.37:g.134711196C>T	ENSP00000359788:p.Pro618Ser					DDX26B_ENST00000493637.1_3'UTR	p.P618S	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			14	2186	+	Acute lymphoblastic leukemia(192;6.56e-05)		618					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1852C>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	7.126	0.578896	0.13686	.	.	ENSG00000165359	ENST00000370752	T	0.30714	1.52	5.2	3.4	0.38934	.	0.445169	0.26959	N	0.021633	T	0.17195	0.0413	N	0.25647	0.755	0.25161	N	0.990359	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.31110	-0.9955	10	0.06891	T	0.86	-2.5131	9.2641	0.37630	0.0:0.7752:0.1428:0.0821	.	618;618	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	S	618	ENSP00000359788:P618S	ENSP00000359788:P618S	P	+	1	0	DDX26B	134538862	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.913000	0.48790	0.504000	0.28082	0.600000	0.82982	CCT		0.468	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		77	121	0	0	0	1	0	77	121				
KIAA1522	57648	broad.mit.edu	37	1	33235702	33235702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33235702C>T	ENST00000373480.1	+	6	848	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.R308W|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R260W	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	249										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTTTGTTGGCCGGTCCACGGG	0.687																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(922-924)Cgg>Tgg		KIAA1522							32.0	38.0	36.0					1																	33235702		2042	4175	6217	SO:0001583	missense	57648							g.chr1:33235702C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.745C>T	1.37:g.33235702C>T	ENSP00000362579:p.Arg249Trp					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R260W|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R249W	p.R308W	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	992	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	249					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.922C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819490	0.32145	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.31769	1.48;1.48;1.48	4.39	4.39	0.52855	.	0.155041	0.31531	N	0.007498	T	0.44808	0.1311	L	0.50333	1.59	0.40822	D	0.983511	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.997	T	0.43734	-0.9373	10	0.66056	D	0.02	-12.1685	7.2682	0.26242	0.1813:0.7286:0.0:0.0901	.	260;249;308	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	W	308;260;249	ENSP00000383851:R308W;ENSP00000362580:R260W;ENSP00000362579:R249W	ENSP00000362579:R249W	R	+	1	2	KIAA1522	33008289	0.910000	0.30920	0.940000	0.37924	0.505000	0.33919	0.618000	0.24373	2.145000	0.66743	0.491000	0.48974	CGG		0.687	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			23	44	0	0	0	1	0	23	44				
LRRC45	201255	broad.mit.edu	37	17	79983272	79983272	+	Missense_Mutation	SNP	G	G	A	rs373267378		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79983272G>A	ENST00000306688.3	+	5	892	c.550G>A	c.(550-552)Gtt>Att	p.V184I	STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000583767.1_5'Flank|STRA13_ENST00000580435.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000584347.1_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	184						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAATAACGTTGGCCTCCT	0.627																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(550-552)Gtt>Att		leucine rich repeat containing 45		G	ILE/VAL	0,4404		0,0,2202	79.0	78.0	79.0		550	-2.5	0.9	17		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC45	NM_144999.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	184/671	79983272	1,13003	2202	4300	6502	SO:0001583	missense	201255					centrosome		g.chr17:79983272G>A	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.550G>A	17.37:g.79983272G>A	ENSP00000306760:p.Val184Ile					LRRC45_ENST00000583383.1_3'UTR	p.V184I	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		5	892	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		184						Missense_Mutation	SNP	ENST00000306688.3	37	c.550G>A	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	G	3.176	-0.169018	0.06461	0.0	1.16E-4	ENSG00000169683	ENST00000306688	T	0.38887	1.11	4.4	-2.54	0.06307	.	0.426786	0.24287	N	0.039842	T	0.07818	0.0196	N	0.00280	-1.71	0.21627	N	0.999615	B	0.02656	0.0	B	0.01281	0.0	T	0.39231	-0.9624	9	.	.	.	-5.9865	5.5859	0.17274	0.5406:0.1382:0.3212:0.0	.	184	Q96CN5	LRC45_HUMAN	I	184	ENSP00000306760:V184I	.	V	+	1	0	LRRC45	77576561	0.074000	0.21230	0.882000	0.34594	0.978000	0.69477	0.108000	0.15396	-0.506000	0.06558	-0.440000	0.05779	GTT		0.627	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		21	49	0	0	0	1	0	21	49				
CAMK1D	57118	broad.mit.edu	37	10	12595236	12595236	+	Silent	SNP	C	C	T	rs141516444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12595236C>T	ENST00000378847.3	+	2	442	c.105C>T	c.(103-105)tcC>tcT	p.S35S	CAMK1D_ENST00000378845.1_Silent_p.S35S|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.S35S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGGCCTTTTCCGAAGTGGTTT	0.468																																						ENST00000378847.3																			2	Substitution - coding silent(2)	p.S35S(2)	lung(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(103-105)tcC>tcT		calcium/calmodulin-dependent protein kinase ID							155.0	147.0	150.0					10																	12595236		2203	4300	6503	SO:0001819	synonymous_variant	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12595236C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.105C>T	10.37:g.12595236C>T						CAMK1D_ENST00000378845.1_Silent_p.S35S|CAMK1D_ENST00000487696.1_Intron	p.S35S	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	2	442	+			35			Protein kinase.		B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	c.105C>T	CCDS7091.1																																																																																				0.468	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		38	68	0	0	0	1	0	38	68				
MPZ	4359	broad.mit.edu	37	1	161275672	161275672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161275672C>A	ENST00000533357.1	-	6	807	c.741G>T	c.(739-741)aaG>aaT	p.K247N	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.K257N|MPZ_ENST00000491222.2_Missense_Mutation_p.K51N|MPZ_ENST00000336559.4_Missense_Mutation_p.R247I	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	247					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592																																						ENST00000533357.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(739-741)aaG>aaT		myelin protein zero							56.0	56.0	56.0					1																	161275672		2203	4300	6503	SO:0001583	missense	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161275672C>A	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.741G>T	1.37:g.161275672C>A	ENSP00000432943:p.Lys247Asn					MPZ_ENST00000360451.6_Missense_Mutation_p.K257N|MPZ_ENST00000336559.4_Missense_Mutation_p.R247I|MPZ_ENST00000491222.2_Missense_Mutation_p.K51N|MPZ_ENST00000526189.1_5'UTR	p.K247N	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	807	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	247					Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	c.741G>T	CCDS1229.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.429254|4.429254	0.83776|0.83776	.|.	.|.	ENSG00000158887|ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000491222|ENST00000336559	D;D;D|D	0.89681|0.96967	-2.55;-2.55;-2.55|-4.19	5.17|5.17	5.17|5.17	0.71159|0.71159	Myelin-PO, C-terminal (1);|.	0.133903|.	0.34110|.	N|.	0.004251|.	D|D	0.93739|0.93739	0.7999|0.7999	N|N	0.24115|0.24115	0.695|0.695	.|.	.|.	.|.	D|.	0.67145|.	0.996|.	D|.	0.64687|.	0.928|.	D|D	0.95232|0.95232	0.8343|0.8343	9|6	0.72032|0.87932	D|D	0.01|0	-14.4508|-14.4508	16.2183|16.2183	0.82241|0.82241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	247|.	P25189|.	MYP0_HUMAN|.	N|I	247;257;51|247	ENSP00000432943:K247N;ENSP00000353634:K257N;ENSP00000431441:K51N|ENSP00000337777:R247I	ENSP00000353634:K257N|ENSP00000337777:R247I	K|R	-|-	3|2	2|0	MPZ|MPZ	159542296|159542296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.628000|3.628000	0.54259|0.54259	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.592	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		5	39	1	0	0.0293803	1	0.0301098	5	39				
CNGA3	1261	broad.mit.edu	37	2	98999890	98999890	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98999890C>T	ENST00000272602.2	+	4	474	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000393504.1_Silent_p.N145N|CNGA3_ENST00000409937.1_Silent_p.N149N			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	145					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCAGCAACAACACGGAGG	0.582																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(433-435)aaC>aaT		cyclic nucleotide gated channel alpha 3							123.0	107.0	112.0					2																	98999890		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999890C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.435C>T	2.37:g.98999890C>T						CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.N145N|CNGA3_ENST00000409937.1_Silent_p.N149N	p.N145N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			5	852	+			145					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.435C>T	CCDS2034.1																																																																																				0.582	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		7	22	0	0	0	1	0	7	22				
TRIM28	10155	broad.mit.edu	37	19	59061781	59061781	+	Missense_Mutation	SNP	G	G	A	rs373226669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061781G>A	ENST00000253024.5	+	17	2658	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R708H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	790	Bromo.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCCTGCAGCGCTTCTTCGAG	0.602																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(2368-2370)cGc>cAc		tripartite motif containing 28		G	HIS/ARG	0,4406		0,0,2203	79.0	72.0	74.0		2369	5.1	1.0	19		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIM28	NM_005762.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	790/836	59061781	1,13005	2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061781G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2369G>A	19.37:g.59061781G>A	ENSP00000253024:p.Arg790His					TRIM28_ENST00000341753.6_Missense_Mutation_p.R708H	p.R790H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	17	2658	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	790			Bromo.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2369G>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843397	0.51057	0.0	1.16E-4	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.44083	0.93;0.93	5.06	5.06	0.68205	Bromodomain (2);	0.478813	0.20545	N	0.090230	T	0.32436	0.0829	N	0.08118	0	0.35606	D	0.808264	D;P;P	0.54772	0.968;0.923;0.946	P;P;P	0.50970	0.655;0.507;0.453	T	0.36696	-0.9737	10	0.44086	T	0.13	-20.7723	11.917	0.52771	0.0:0.1752:0.8248:0.0	.	708;790;790	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	H	790;708	ENSP00000253024:R790H;ENSP00000342232:R708H	ENSP00000253024:R790H	R	+	2	0	TRIM28	63753593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.448000	0.52943	2.804000	0.96469	0.462000	0.41574	CGC		0.602	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		22	38	0	0	0	1	0	22	38				
MTHFD1	4522	broad.mit.edu	37	14	64920503	64920503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920503C>T	ENST00000545908.1	+	25	2886	c.2657C>T	c.(2656-2658)gCa>gTa	p.A886V	ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.8_Missense_Mutation_p.A830V|ZBTB25_ENST00000555424.1_Intron|MTHFD1_ENST00000556284.1_3'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	830	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	AGGATCATTGCACAGAAGATC	0.438																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2488-2490)gCa>gTa		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						160.0	124.0	136.0					14																	64920503		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64920503C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2657C>T	14.37:g.64920503C>T	ENSP00000438588:p.Ala886Val					ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000545908.1_Missense_Mutation_p.A886V|MTHFD1_ENST00000216605.7_Missense_Mutation_p.A886V|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron	p.A830V	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	25	2876	+			830			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2489C>T		.	.	.	.	.	.	.	.	.	.	C	29.2	4.989705	0.93106	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.29917	1.55;1.55;1.55	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	M	0.77313	2.365	0.80722	D	1	P;D	0.71674	0.915;0.998	P;D	0.68192	0.721;0.956	T	0.60326	-0.7285	10	0.51188	T	0.08	-17.9449	18.0612	0.89378	0.0:1.0:0.0:0.0	.	886;830	F5H2F4;G3V2B8	.;.	V	886;830;886	ENSP00000438588:A886V;ENSP00000450560:A830V;ENSP00000216605:A886V	ENSP00000216605:A830V	A	+	2	0	MTHFD1	63990256	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	7.602000	0.82796	2.553000	0.86117	0.585000	0.79938	GCA		0.438	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			16	28	0	0	0	1	0	16	28				
ACAP2	23527	broad.mit.edu	37	3	195022752	195022752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022752C>T	ENST00000326793.6	-	14	1498	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	423	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCTGGCCCACCGTGGATCTGC	0.527																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1267-1269)cGg>cAg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							144.0	149.0	147.0					3																	195022752		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195022752C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1268G>A	3.37:g.195022752C>T	ENSP00000324287:p.Arg423Gln						p.R423Q	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			14	1498	-			423			Arf-GAP.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1268G>A	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060051	0.97246	.	.	ENSG00000114331	ENST00000326793	T	0.43294	0.95	5.98	5.98	0.97165	.	0.048766	0.85682	D	0.000000	T	0.59321	0.2185	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55915	-0.8065	10	0.54805	T	0.06	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	423	Q15057	ACAP2_HUMAN	Q	423	ENSP00000324287:R423Q	ENSP00000324287:R423Q	R	-	2	0	ACAP2	196504041	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.997000	0.70646	2.838000	0.97847	0.591000	0.81541	CGG		0.527	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		6	141	0	0	0	1	0	6	141				
MAP1B	4131	broad.mit.edu	37	5	71495246	71495246	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71495246G>T	ENST00000296755.7	+	5	6362	c.6064G>T	c.(6064-6066)Ggt>Tgt	p.G2022C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2022					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAGTCTGAAGGTTATTCCTA	0.463																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6064-6066)Ggt>Tgt		microtubule-associated protein 1B							127.0	140.0	135.0					5																	71495246		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495246G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6064G>T	5.37:g.71495246G>T	ENSP00000296755:p.Gly2022Cys						p.G2022C	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6362	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2022					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6064G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	8.778	0.927577	0.18056	.	.	ENSG00000131711	ENST00000296755	T	0.03152	4.03	5.51	4.35	0.52113	.	0.069423	0.64402	D	0.000010	T	0.02119	0.0066	N	0.08118	0	0.21967	N	0.99945	P;B	0.40660	0.726;0.422	B;B	0.36186	0.219;0.219	T	0.45411	-0.9263	10	0.59425	D	0.04	-5.4133	7.6902	0.28563	0.7913:0.0:0.2087:0.0	.	1896;2022	A2BDK6;P46821	.;MAP1B_HUMAN	C	2022	ENSP00000296755:G2022C	ENSP00000296755:G2022C	G	+	1	0	MAP1B	71531002	0.000000	0.05858	1.000000	0.80357	0.718000	0.41266	0.908000	0.28545	0.941000	0.37499	-0.255000	0.11280	GGT		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		10	139	1	0	4.68919e-08	1	5.58064e-08	10	139				
FAM110B	90362	broad.mit.edu	37	8	59059400	59059400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59059400G>A	ENST00000361488.3	+	5	1491	c.611G>A	c.(610-612)cGc>cAc	p.R204H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	204						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R204H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCGGACATCCGCAAGGTGACC	0.657																																						ENST00000361488.3																			1	Substitution - Missense(1)	p.R204H(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(610-612)cGc>cAc		family with sequence similarity 110, member B							67.0	64.0	65.0					8																	59059400		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059400G>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.611G>A	8.37:g.59059400G>A	ENSP00000355204:p.Arg204His					FAM110B_ENST00000520369.1_Intron	p.R204H	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1491	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	204					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.611G>A	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972709	0.74246	.	.	ENSG00000169122	ENST00000361488	T	0.34859	1.34	5.67	5.67	0.87782	.	0.067326	0.56097	D	0.000021	T	0.36441	0.0967	L	0.32530	0.975	0.51012	D	0.999908	D	0.62365	0.991	P	0.46299	0.511	T	0.03193	-1.1062	9	.	.	.	-30.6529	19.7587	0.96304	0.0:0.0:1.0:0.0	.	204	Q8TC76	F110B_HUMAN	H	204	ENSP00000355204:R204H	.	R	+	2	0	FAM110B	59221954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.829000	0.62737	2.676000	0.91093	0.561000	0.74099	CGC		0.657	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		22	31	0	0	0	1	0	22	31				
ZNF483	158399	broad.mit.edu	37	9	114289834	114289834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114289834G>A	ENST00000309235.5	+	2	317	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ZNF483_ENST00000358151.4_Silent_p.Q53Q|ZNF483_ENST00000374374.3_Silent_p.Q53Q|ZNF483_ENST00000355824.3_Silent_p.Q53Q	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTTCAGACAGAGGTTTAGGT	0.473																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(157-159)caG>caA		zinc finger protein 483							90.0	95.0	93.0					9																	114289834		2203	4300	6503	SO:0001819	synonymous_variant	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114289834G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.159G>A	9.37:g.114289834G>A						ZNF483_ENST00000355824.3_Silent_p.Q53Q|ZNF483_ENST00000358151.4_Silent_p.Q53Q|ZNF483_ENST00000374374.3_Silent_p.Q53Q	p.Q53Q	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			2	317	+			53			SCAN box.		Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	c.159G>A	CCDS35106.1																																																																																				0.473	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		27	48	0	0	0	1	0	27	48				
MEP1B	4225	broad.mit.edu	37	18	29793158	29793158	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29793158C>T	ENST00000269202.6	+	11	1262	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	MEP1B_ENST00000581447.1_Silent_p.R405R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	405	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTGAAGGACGCAAAGGCTCTG	0.423																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1213-1215)cgC>cgT		meprin A, beta							111.0	108.0	109.0					18																	29793158		1998	4174	6172	SO:0001819	synonymous_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29793158C>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1215C>T	18.37:g.29793158C>T						MEP1B_ENST00000581447.1_Silent_p.R405R	p.R405R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			11	1262	+			405			MAM.		B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	c.1215C>T	CCDS45846.1																																																																																				0.423	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		20	35	0	0	0	1	0	20	35				
ADCK1	57143	broad.mit.edu	37	14	78390902	78390902	+	Missense_Mutation	SNP	G	G	A	rs140287525		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78390902G>A	ENST00000238561.5	+	8	1060	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G253S	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	328	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GAAGCACCCCGGCACGGGAAA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18892	0.0		0.0	False		,,,				2504	0.0					ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(961-963)Ggc>Agc		aarF domain containing kinase 1							87.0	82.0	84.0					14																	78390902		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78390902G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.961G>A	14.37:g.78390902G>A	ENSP00000238561:p.Gly321Ser					ADCK1_ENST00000341211.5_Missense_Mutation_p.G253S|ADCK1_ENST00000556560.1_3'UTR	p.G321S	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	8	1060	+			328			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.961G>A	CCDS9869.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.145	0.582634	0.13749	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.29655	1.56;1.56	5.82	2.95	0.34219	Protein kinase-like domain (1);	1.205830	0.05533	N	0.564276	T	0.12220	0.0297	N	0.02142	-0.665	0.09310	N	1	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.24728	-1.0152	10	0.09084	T	0.74	-20.488	7.9098	0.29785	0.1924:0.1163:0.6912:0.0	.	328;253;321	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	S	321;253	ENSP00000238561:G321S;ENSP00000339663:G253S	ENSP00000238561:G321S	G	+	1	0	ADCK1	77460655	0.016000	0.18221	0.004000	0.12327	0.508000	0.34012	2.007000	0.40883	0.793000	0.33875	-0.126000	0.14955	GGC		0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		22	35	0	0	0	1	0	22	35				
OR13C4	138804	broad.mit.edu	37	9	107289482	107289482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107289482C>A	ENST00000277216.3	-	1	8	c.9G>T	c.(7-9)aaG>aaT	p.K3N		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCTGGTTTATCTTGTCCATGT	0.368																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(7-9)aaG>aaT		olfactory receptor, family 13, subfamily C, member 4							72.0	72.0	72.0					9																	107289482		2203	4299	6502	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289482C>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.9G>T	9.37:g.107289482C>A	ENSP00000277216:p.Lys3Asn						p.K3N	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	8	-			3					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.9G>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	C	9.990	1.230656	0.22542	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.03272	3.99	4.07	-5.73	0.02398	.	0.747338	0.11329	U	0.575213	T	0.01976	0.0062	N	0.21282	0.65	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.45644	-0.9247	10	0.19147	T	0.46	.	4.8755	0.13655	0.2469:0.4462:0.0:0.3069	.	3	Q8NGS5	O13C4_HUMAN	N	3;32	ENSP00000277216:K3N	ENSP00000277216:K3N	K	-	3	2	OR13C4	106329303	0.000000	0.05858	0.000000	0.03702	0.581000	0.36288	-0.877000	0.04197	-1.208000	0.02634	0.591000	0.81541	AAG		0.368	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			4	85	1	0	0.150653	1	0.152692	4	85				
FAM47C	442444	broad.mit.edu	37	X	37027307	37027307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37027307C>A	ENST00000358047.3	+	1	876	c.824C>A	c.(823-825)cCt>cAt	p.P275H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	275				P -> S (in Ref. 2; BAC86381). {ECO:0000305}.						breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGCCTCCTGGGACTGGA	0.612																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(823-825)cCt>cAt		family with sequence similarity 47, member C							64.0	58.0	60.0					X																	37027307		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027307C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.824C>A	X.37:g.37027307C>A	ENSP00000367913:p.Pro275His						p.P275H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	876	+			275	P -> S (in Ref. 2; BAC86381).				Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.824C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505082	0.26949	.	.	ENSG00000198173	ENST00000358047	T	0.23348	1.91	1.02	1.02	0.19986	.	.	.	.	.	T	0.27559	0.0677	M	0.61703	1.905	0.21950	N	0.999455	P	0.44734	0.842	B	0.43680	0.427	T	0.10894	-1.0610	9	0.44086	T	0.13	.	7.7988	0.29162	0.0:0.9999:0.0:1.0E-4	.	275	Q5HY64	FA47C_HUMAN	H	275	ENSP00000367913:P275H	ENSP00000367913:P275H	P	+	2	0	FAM47C	36937228	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.252000	0.18278	0.283000	0.22279	0.287000	0.19450	CCT		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		19	39	1	0	2.4624e-09	1	2.98951e-09	19	39				
DBR1	51163	broad.mit.edu	37	3	137881272	137881272	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137881272G>T	ENST00000260803.4	-	8	1247	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	DBR1_ENST00000505015.2_Missense_Mutation_p.P131H	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	365					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGTTGTCTGAGGATTGATCCT	0.403																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1093-1095)cCt>cAt		debranching RNA lariats 1							106.0	100.0	102.0					3																	137881272		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137881272G>T	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1094C>A	3.37:g.137881272G>T	ENSP00000260803:p.Pro365His					DBR1_ENST00000505015.2_Missense_Mutation_p.P131H	p.P365H	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1247	-			365					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.1094C>A	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929975	0.92389	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.63913	-0.07	5.99	5.99	0.97316	Lariat debranching enzyme, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.92649	3.33	0.80722	D	1	P;D	0.89917	0.88;1.0	P;D	0.81914	0.799;0.995	D	0.86616	0.1876	10	0.59425	D	0.04	-17.8697	17.9715	0.89115	0.0:0.0:1.0:0.0	.	365;133	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	H	365;131	ENSP00000260803:P365H	ENSP00000260803:P365H	P	-	2	0	DBR1	139363962	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.613000	0.98350	2.840000	0.97914	0.655000	0.94253	CCT		0.403	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			28	47	1	0	2.46105e-21	1	3.23713e-21	28	47				
DDX23	9416	broad.mit.edu	37	12	49224261	49224261	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49224261G>T	ENST00000308025.3	-	17	2533	c.2454C>A	c.(2452-2454)atC>atA	p.I818I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	818					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GTCAGGCAAAGATGGTCTCTT	0.567																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(2452-2454)atC>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							85.0	75.0	79.0					12																	49224261		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49224261G>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2454C>A	12.37:g.49224261G>T							p.I818I	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			17	2533	-			818					B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.2454C>A	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790657	0.70452	.	.	ENSG00000174243	ENST00000550834	.	.	.	5.97	5.08	0.68730	.	.	.	.	.	T	0.72342	0.3448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71978	-0.4429	4	.	.	.	-13.7814	15.6377	0.76966	0.0:0.0:0.8614:0.1386	.	.	.	.	I	150	.	.	L	-	1	0	DDX23	47510528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.889000	0.48601	1.534000	0.49203	-0.152000	0.13540	CTT		0.567	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		6	44	1	0	5.9392e-07	1	6.91975e-07	6	44				
GJA10	84694	broad.mit.edu	37	6	90605392	90605392	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90605392T>C	ENST00000369352.1	+	1	1205	c.1205T>C	c.(1204-1206)cTt>cCt	p.L402P	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	189					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTCACAGATCTTCATAGTCAC	0.547																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(1204-1206)cTt>cCt		gap junction protein, alpha 10, 62kDa							72.0	72.0	72.0					6																	90605392		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605392T>C	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1205T>C	6.37:g.90605392T>C	ENSP00000358358:p.Leu402Pro						p.L402P	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1205	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	402					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.1205T>C	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957983	0.53400	.	.	ENSG00000135355	ENST00000369352	D	0.98120	-4.73	5.6	1.54	0.23209	.	1.439040	0.04732	N	0.421292	D	0.94450	0.8214	L	0.50333	1.59	0.19300	N	0.99998	P	0.47409	0.895	P	0.49226	0.603	D	0.89093	0.3484	10	0.33141	T	0.24	.	7.3871	0.26888	0.0:0.077:0.3498:0.5732	.	402	Q969M2	CXA10_HUMAN	P	402	ENSP00000358358:L402P	ENSP00000358358:L402P	L	+	2	0	GJA10	90662113	0.000000	0.05858	0.042000	0.18584	0.456000	0.32438	0.535000	0.23114	0.354000	0.24105	0.460000	0.39030	CTT		0.547	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		6	40	0	0	0	1	0	6	40				
TMED1	11018	broad.mit.edu	37	19	10943688	10943688	+	Missense_Mutation	SNP	G	G	A	rs139213045	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10943688G>A	ENST00000214869.2	-	4	765	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TMED1_ENST00000591695.1_Silent_p.S161S|TMED1_ENST00000588289.1_Missense_Mutation_p.R78C	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	223					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GGCACCGGGCGCTTGTCCTGG	0.612																																						ENST00000214869.2																			0				breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						c.(667-669)Cgc>Tgc		transmembrane emp24 protein transport domain containing 1		G	CYS/ARG	0,4406		0,0,2203	49.0	50.0	50.0		667	2.8	1.0	19	dbSNP_134	50	6,8594	5.0+/-18.6	0,6,4294	yes	missense	TMED1	NM_006858.2	180	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	223/228	10943688	6,13000	2203	4300	6503	SO:0001583	missense	11018				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding	g.chr19:10943688G>A	U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.667C>T	19.37:g.10943688G>A	ENSP00000214869:p.Arg223Cys					TMED1_ENST00000591695.1_Silent_p.S161S|TMED1_ENST00000588289.1_Missense_Mutation_p.R78C	p.R223C	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN			4	765	-			223						Missense_Mutation	SNP	ENST00000214869.2	37	c.667C>T	CCDS12249.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030962	0.75504	0.0	6.98E-4	ENSG00000099203	ENST00000214869	T	0.45668	0.89	5.09	2.76	0.32466	.	0.325872	0.32488	N	0.006038	T	0.55210	0.1906	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.63192	0.912	T	0.56601	-0.7952	10	0.62326	D	0.03	-21.8166	7.7023	0.28630	0.085:0.0:0.6777:0.2373	.	223	Q13445	TMED1_HUMAN	C	223	ENSP00000214869:R223C	ENSP00000214869:R223C	R	-	1	0	TMED1	10804688	0.851000	0.29673	0.995000	0.50966	0.992000	0.81027	0.923000	0.28757	1.119000	0.41883	0.655000	0.94253	CGC		0.612	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		13	28	0	0	0	1	0	13	28				
SRGAP1	57522	broad.mit.edu	37	12	64502780	64502780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64502780C>A	ENST00000355086.3	+	16	2406	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L605I|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L565I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	628	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGTCGGTCCTTATAGTGAT	0.463																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1882-1884)Ctt>Att		SLIT-ROBO Rho GTPase activating protein 1							150.0	132.0	138.0					12																	64502780		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502780C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1882C>A	12.37:g.64502780C>A	ENSP00000347198:p.Leu628Ile					SRGAP1_ENST00000357825.3_Missense_Mutation_p.L605I|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L565I	p.L628I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	2406	+			628			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1882C>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097225	0.37048	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.43688	0.94;0.94;0.94	5.2	4.3	0.51218	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.31834	U	0.006992	T	0.30696	0.0773	N	0.20807	0.61	0.58432	D	0.999999	B;B	0.28208	0.203;0.086	B;B	0.34722	0.188;0.083	T	0.06058	-1.0848	9	.	.	.	.	13.9736	0.64257	0.0:0.9258:0.0:0.0742	.	628;565	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	628;605;565	ENSP00000347198:L628I;ENSP00000350480:L605I;ENSP00000437948:L565I	.	L	+	1	0	SRGAP1	62789047	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	2.405000	0.44548	2.822000	0.97130	0.650000	0.86243	CTT		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	77	1	0	1	1	1	6	77				
GPR133	283383	broad.mit.edu	37	12	131471764	131471764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131471764C>T	ENST00000261654.5	+	6	1174	c.615C>T	c.(613-615)aaC>aaT	p.N205N	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Silent_p.N237N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	205					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGAGTCCAACGTCAACCTCG	0.532																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(613-615)aaC>aaT		G protein-coupled receptor 133							170.0	157.0	162.0					12																	131471764		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131471764C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.615C>T	12.37:g.131471764C>T						GPR133_ENST00000535015.1_Silent_p.N237N	p.N205N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	6	1174	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		205					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.615C>T	CCDS9272.1																																																																																				0.532	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		6	112	0	0	0	1	0	6	112				
RYR3	6263	broad.mit.edu	37	15	33893742	33893742	+	Silent	SNP	C	C	T	rs199980142		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33893742C>T	ENST00000389232.4	+	17	1981	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	RYR3_ENST00000415757.3_Silent_p.N637N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	637	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGATTAACGATGTAACCA	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19429	0.0		0.0	False		,,,				2504	0.0					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1909-1911)aaC>aaT		ryanodine receptor 3							91.0	85.0	87.0					15																	33893742		2030	4205	6235	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33893742C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1911C>T	15.37:g.33893742C>T						RYR3_ENST00000415757.3_Silent_p.N637N	p.N637N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	17	1981	+		all_lung(180;7.18e-09)	637			B30.2/SPRY 1.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1911C>T	CCDS45210.1																																																																																				0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	12	0	0	0	1	0	8	12				
FMNL1	752	broad.mit.edu	37	17	43322423	43322423	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43322423G>A	ENST00000331495.3	+	21	3012	c.2676G>A	c.(2674-2676)ccG>ccA	p.P892P	FMNL1_ENST00000328118.3_Silent_p.P892P|FMNL1_ENST00000587489.1_Silent_p.P470P|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	892	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAAGTACCCGCAACTCACAG	0.587																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2674-2676)ccG>ccA		formin-like 1							82.0	75.0	77.0					17																	43322423		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43322423G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2676G>A	17.37:g.43322423G>A						FMNL1_ENST00000328118.3_Silent_p.P892P|FMNL1_ENST00000587489.1_Silent_p.P470P	p.P892P	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			21	3012	+			892			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.2676G>A	CCDS11497.1																																																																																				0.587	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		25	24	0	0	0	1	0	25	24				
VILL	50853	broad.mit.edu	37	3	38042993	38042993	+	Missense_Mutation	SNP	G	G	A	rs35351971	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38042993G>A	ENST00000283713.6	+	12	1495	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	VILL_ENST00000383759.2_Missense_Mutation_p.R410H|VILL_ENST00000465644.1_Missense_Mutation_p.R128H			O15195	VILL_HUMAN	villin-like	410					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACCCCAAGCGTCATGGACAG	0.587													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20562	0.0		0.0	False		,,,				2504	0.0					ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1228-1230)cGt>cAt		villin-like		G	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	115.0	99.0	104.0		1229	-7.8	0.0	3	dbSNP_126	104	5,8595	4.3+/-15.6	0,5,4295	yes	missense	VILL	NM_015873.3	29	0,13,6490	AA,AG,GG		0.0581,0.1816,0.1	benign	410/857	38042993	13,12993	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38042993G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1229G>A	3.37:g.38042993G>A	ENSP00000283713:p.Arg410His					VILL_ENST00000465644.1_Missense_Mutation_p.R128H|VILL_ENST00000383759.2_Missense_Mutation_p.R410H	p.R410H			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	12	1495	+			410					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.1229G>A	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.294324	0.01375	0.001816	5.81E-4	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.54675	0.56;0.56;0.56	4.04	-7.8	0.01214	Gelsolin domain (1);	0.951916	0.08680	N	0.909541	T	0.16128	0.0388	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.17992	-1.0351	10	0.12103	T	0.63	0.2328	2.2972	0.04153	0.1977:0.1882:0.4006:0.2135	rs35351971	396;410	O15195-2;O15195	.;VILL_HUMAN	H	410;410;396;128	ENSP00000283713:R410H;ENSP00000373266:R410H;ENSP00000422096:R128H	ENSP00000283713:R410H	R	+	2	0	VILL	38017997	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.147000	0.03188	-1.688000	0.01435	-1.436000	0.01078	CGT		0.587	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		19	24	0	0	0	1	0	19	24				
C18orf8	29919	broad.mit.edu	37	18	21083594	21083594	+	Missense_Mutation	SNP	G	G	T	rs201480149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21083594G>T	ENST00000269221.3	+	1	122	c.12G>T	c.(10-12)gaG>gaT	p.E4D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E4D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	4						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGGCGAGGAGGACTACTATC	0.716																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(10-12)gaG>gaT		chromosome 18 open reading frame 8							34.0	37.0	36.0					18																	21083594		2202	4300	6502	SO:0001583	missense	29919							g.chr18:21083594G>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.12G>T	18.37:g.21083594G>T	ENSP00000269221:p.Glu4Asp					C18orf8_ENST00000590868.1_Missense_Mutation_p.E4D	p.E4D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			1	122	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		4					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.12G>T	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047081	0.36085	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	.	.	.	4.54	2.72	0.32119	.	0.179363	0.48286	D	0.000193	T	0.18341	0.0440	N	0.12182	0.205	0.32313	N	0.563517	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.11084	-1.0602	9	0.16420	T	0.52	0.7326	3.3447	0.07131	0.1621:0.1354:0.5634:0.1391	.	4;4	Q96DM3;F5H2W0	MIC1_HUMAN;.	D	4	.	ENSP00000269221:E4D	E	+	3	2	C18orf8	19337592	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.207000	0.32333	0.893000	0.36288	0.563000	0.77884	GAG		0.716	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		5	25	1	0	0.000274275	1	0.000298791	5	25				
SZT2	23334	broad.mit.edu	37	1	43888947	43888947	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43888947C>A	ENST00000372442.1	+	0	151				SZT2_ENST00000562955.1_Missense_Mutation_p.L739I			Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)						central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCGGCCCTGCCTTGTGGTCCT	0.617																																						ENST00000372442.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113								seizure threshold 2 homolog (mouse)							43.0	40.0	41.0					1																	43888947		876	1991	2867			23334					peroxisome		g.chr1:43888947C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000372442.1:c.-312C>A	1.37:g.43888947C>A						SZT2_ENST00000562955.1_Missense_Mutation_p.L739I				Q5T011	SZT2_HUMAN			0	151	+								A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Translation_Start_Site	SNP	ENST00000372442.1	37																																																																																						0.617	SZT2-202	KNOWN	basic	protein_coding	protein_coding		NM_015284		5	33	1	0	3.59834e-05	1	4.01776e-05	5	33				
NCOA2	10499	broad.mit.edu	37	8	71075085	71075085	+	Silent	SNP	C	C	T	rs557912456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71075085C>T	ENST00000452400.2	-	9	1018	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	279					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGACGTGATCTTGCCTATTA	0.403			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(835-837)aaG>aaA		nuclear receptor coactivator 2							177.0	171.0	173.0					8																	71075085		1941	4135	6076	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71075085C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.837G>A	8.37:g.71075085C>T							p.K279K	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		9	1018	-	Breast(64;0.201)		279					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.837G>A	CCDS47872.1																																																																																				0.403	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			63	114	0	0	0	1	0	63	114				
NHLH2	4808	broad.mit.edu	37	1	116380610	116380610	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116380610A>T	ENST00000369506.1	-	1	5928	c.384T>A	c.(382-384)taT>taA	p.Y128*	NHLH2_ENST00000320238.3_Nonsense_Mutation_p.Y128*			Q02577	HEN2_HUMAN	nescient helix loop helix 2	128	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGTGGTTGAGATAGGAGATGT	0.682																																						ENST00000369506.1																			0				prostate(1)	1						c.(382-384)taT>taA		nescient helix loop helix 2							20.0	24.0	23.0					1																	116380610		2203	4300	6503	SO:0001587	stop_gained	4808				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:116380610A>T		CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.384T>A	1.37:g.116380610A>T	ENSP00000358519:p.Tyr128*					NHLH2_ENST00000320238.3_Nonsense_Mutation_p.Y128*	p.Y128*			Q02577	HEN2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	1	5928	-	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)	128			Helix-loop-helix motif.		Q5T1P6	Nonsense_Mutation	SNP	ENST00000369506.1	37	c.384T>A	CCDS885.1	.	.	.	.	.	.	.	.	.	.	A	60	43.595731	0.99986	.	.	ENSG00000177551	ENST00000320238;ENST00000369506	.	.	.	5.14	4.02	0.46733	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.40003	D	0.975191	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3599	8.8018	0.34914	0.8415:0.0:0.1585:0.0	.	.	.	.	X	128	.	ENSP00000322087:Y128X	Y	-	3	2	NHLH2	116182133	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	1.721000	0.38032	0.811000	0.34303	0.454000	0.30748	TAT		0.682	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1	NM_005599		4	14	0	0	0	1	0	4	14				
DHX8	1659	broad.mit.edu	37	17	41598189	41598189	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41598189A>G	ENST00000262415.3	+	20	3080	c.3008A>G	c.(3007-3009)gAg>gGg	p.E1003G	DHX8_ENST00000540306.1_Missense_Mutation_p.E1003G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1003					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTGCAGTGAGGAAATGCTG	0.478											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3007-3009)gAg>gGg		DEAH (Asp-Glu-Ala-His) box polypeptide 8							156.0	130.0	139.0					17																	41598189		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41598189A>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3008A>G	17.37:g.41598189A>G	ENSP00000262415:p.Glu1003Gly		OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	DHX8_ENST00000540306.1_Missense_Mutation_p.E1003G	p.E1003G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	20	3080	+		Breast(137;0.00908)	1003						Missense_Mutation	SNP	ENST00000262415.3	37	c.3008A>G	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.955556	0.92726	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.31247	1.5;1.5	5.79	5.79	0.91817	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.79614	2.46	0.80722	D	1	D;D	0.63880	0.993;0.966	P;P	0.58130	0.833;0.817	T	0.58555	-0.7616	10	0.87932	D	0	.	15.3114	0.74035	1.0:0.0:0.0:0.0	.	1003;1003	F5H658;Q14562	.;DHX8_HUMAN	G	1003	ENSP00000437886:E1003G;ENSP00000262415:E1003G	ENSP00000262415:E1003G	E	+	2	0	DHX8	38953715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.145000	0.94634	2.218000	0.71995	0.533000	0.62120	GAG		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			21	34	0	0	0	1	0	21	34				
KMT2B	9757	broad.mit.edu	37	19	36224743	36224743	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36224743C>A	ENST00000222270.7	+	30	7129	c.7129C>A	c.(7129-7131)Ctg>Atg	p.L2377M	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.L2377M	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2377					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCAGACCTGCTGCTTGAGTC	0.622																																						ENST00000420124.1																			0											c.(7129-7131)Ctg>Atg									62.0	68.0	66.0					19																	36224743		1987	4153	6140	SO:0001583	missense	0							g.chr19:36224743C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7129C>A	19.37:g.36224743C>A	ENSP00000222270:p.Leu2377Met					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.L2377M	p.L2377M							30	7129	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.7129C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714661	0.30413	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84223	-1.82;-1.82	5.47	4.44	0.53790	.	0.000000	0.32785	N	0.005655	D	0.84977	0.5592	N	0.19112	0.55	0.28674	N	0.905476	D	0.71674	0.998	D	0.80764	0.994	T	0.78861	-0.2037	10	0.51188	T	0.08	.	10.2286	0.43241	0.0:0.9087:0.0:0.0913	.	2377	Q9UMN6	MLL4_HUMAN	M	2377	ENSP00000222270:L2377M;ENSP00000398837:L2377M	ENSP00000222270:L2377M	L	+	1	2	AD000671.1	40916583	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.790000	0.47821	1.310000	0.45006	0.561000	0.74099	CTG		0.622	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		8	24	1	0	0.00307968	1	0.00325696	8	24				
PPL	5493	broad.mit.edu	37	16	4933512	4933512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4933512G>T	ENST00000345988.2	-	22	5233	c.5144C>A	c.(5143-5145)tCt>tAt	p.S1715Y	PPL_ENST00000590782.2_Missense_Mutation_p.S1713Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1715					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTCTTGCCAGACTTCCTGTC	0.542																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(5143-5145)tCt>tAt		periplakin							98.0	85.0	90.0					16																	4933512		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933512G>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.5144C>A	16.37:g.4933512G>T	ENSP00000340510:p.Ser1715Tyr					PPL_ENST00000590782.2_Missense_Mutation_p.S1713Y	p.S1715Y	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	5233	-			1715					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.5144C>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077745	0.76528	.	.	ENSG00000118898	ENST00000345988	T	0.51574	0.7	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73209	-0.4055	10	0.87932	D	0	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	1715	O60437	PEPL_HUMAN	Y	1715	ENSP00000340510:S1715Y	ENSP00000340510:S1715Y	S	-	2	0	PPL	4873513	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	9.869000	0.99810	2.700000	0.92200	0.561000	0.74099	TCT		0.542	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		23	28	1	0	3.6726e-16	1	4.7309e-16	23	28				
ARHGEF17	9828	broad.mit.edu	37	11	73022552	73022552	+	Missense_Mutation	SNP	G	G	A	rs200820544		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73022552G>A	ENST00000263674.3	+	1	3219	c.2869G>A	c.(2869-2871)Gtt>Att	p.V957I	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	957					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCAGACACGTTCGCCATGC	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		13660	0.001		0.0	False		,,,				2504	0.0					ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(2869-2871)Gtt>Att		Rho guanine nucleotide exchange factor (GEF) 17							49.0	53.0	52.0					11																	73022552		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73022552G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2869G>A	11.37:g.73022552G>A	ENSP00000263674:p.Val957Ile						p.V957I	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	3219	+			957					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.2869G>A	CCDS8221.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	19.81	3.897029	0.72639	.	.	ENSG00000110237	ENST00000263674	T	0.62788	-0.0	5.02	4.11	0.48088	.	0.101283	0.37348	N	0.002140	T	0.42200	0.1192	L	0.29908	0.895	0.29158	N	0.877971	P	0.46395	0.877	B	0.33568	0.166	T	0.49986	-0.8880	10	0.72032	D	0.01	-4.3724	7.7585	0.28938	0.0825:0.0:0.7535:0.164	.	957	Q96PE2	ARHGH_HUMAN	I	957	ENSP00000263674:V957I	ENSP00000263674:V957I	V	+	1	0	ARHGEF17	72700200	1.000000	0.71417	0.958000	0.39756	0.619000	0.37552	4.716000	0.61916	1.265000	0.44215	-0.121000	0.15023	GTT		0.622	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		11	35	0	0	0	1	0	11	35				
DNAH17	8632	broad.mit.edu	37	17	76447622	76447622	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76447622T>C	ENST00000585328.1	-	66	10772	c.10648A>G	c.(10648-10650)Agg>Ggg	p.R3550G	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.R3541G	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3541	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCATCCCTGGTGACCAGG	0.562																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10621-10623)Agg>Ggg		dynein, axonemal, heavy chain 17							303.0	248.0	266.0					17																	76447622		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76447622T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10648A>G	17.37:g.76447622T>C	ENSP00000465516:p.Arg3550Gly					DNAH17_ENST00000585328.1_Missense_Mutation_p.R3550G|DNAH17_ENST00000586052.1_5'UTR	p.R3541G					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		66	10745	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10621A>G		.	.	.	.	.	.	.	.	.	.	T	14.17	2.455951	0.43634	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.33216	1.42	5.2	2.73	0.32206	.	0.000000	0.64402	D	0.000001	T	0.40015	0.1100	M	0.82630	2.6	0.39221	D	0.963505	B	0.27013	0.166	B	0.31191	0.125	T	0.51276	-0.8726	10	0.66056	D	0.02	.	13.9536	0.64133	0.0:0.0:0.2988:0.7012	.	3550	E7EUM8	.	G	3550;3541	ENSP00000374490:R3541G	ENSP00000300671:R3550G	R	-	1	2	DNAH17	73959217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.121000	0.31283	0.795000	0.33922	0.459000	0.35465	AGG		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		13	124	0	0	0	1	0	13	124				
SST	6750	broad.mit.edu	37	3	187386859	187386859	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187386859G>T	ENST00000287641.3	-	2	452	c.345C>A	c.(343-345)tcC>tcA	p.S115S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	115					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	AAAGCTAACAGGATGTGAAAG	0.507																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(343-345)tcC>tcA		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						129.0	134.0	132.0					3																	187386859		2203	4300	6503	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386859G>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.345C>A	3.37:g.187386859G>T							p.S115S	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	452	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		115					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.345C>A	CCDS3288.1																																																																																				0.507	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		8	150	1	0	5.18039e-06	1	5.91835e-06	8	150				
SLC12A7	10723	broad.mit.edu	37	5	1083924	1083924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1083924G>T	ENST00000264930.5	-	8	1108	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	355					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTGGATGAAGTACTCGTCAC	0.652																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1063-1065)taC>taA		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						78.0	75.0	76.0					5																	1083924		2200	4299	6499	SO:0001587	stop_gained	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083924G>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1065C>A	5.37:g.1083924G>T	ENSP00000264930:p.Tyr355*						p.Y355*	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1108	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		355					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Nonsense_Mutation	SNP	ENST00000264930.5	37	c.1065C>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967843	0.92855	.	.	ENSG00000113504	ENST00000264930	.	.	.	3.67	2.78	0.32641	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8368	0.40973	0.1073:0.0:0.8927:0.0	.	.	.	.	X	355	.	ENSP00000264930:Y355X	Y	-	3	2	SLC12A7	1136924	1.000000	0.71417	0.342000	0.25602	0.539000	0.34962	0.755000	0.26405	0.647000	0.30713	0.471000	0.43371	TAC		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		18	28	1	0	6.94344e-10	1	8.49476e-10	18	28				
EHBP1L1	254102	broad.mit.edu	37	11	65349686	65349686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65349686G>A	ENST00000309295.4	+	9	1808	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	515						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGGGGTGGAGCACCTGGTAT	0.652																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1543-1545)Gca>Aca		EH domain binding protein 1-like 1							17.0	20.0	19.0					11																	65349686		1956	4141	6097	SO:0001583	missense	254102							g.chr11:65349686G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1543G>A	11.37:g.65349686G>A	ENSP00000312671:p.Ala515Thr						p.A515T	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1808	+			515					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1543G>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546480	0.45383	.	.	ENSG00000173442	ENST00000309295	T	0.69806	-0.43	5.31	3.38	0.38709	.	1.302320	0.05168	N	0.499129	T	0.57475	0.2056	L	0.32530	0.975	0.22779	N	0.998741	P	0.37781	0.608	B	0.35550	0.205	T	0.50372	-0.8836	10	0.66056	D	0.02	.	8.5144	0.33237	0.0859:0.1556:0.7584:0.0	.	515	Q8N3D4	EH1L1_HUMAN	T	515	ENSP00000312671:A515T	ENSP00000312671:A515T	A	+	1	0	EHBP1L1	65106262	0.000000	0.05858	0.000000	0.03702	0.443000	0.32047	0.599000	0.24089	0.579000	0.29504	0.561000	0.74099	GCA		0.652	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		13	10	0	0	0	1	0	13	10				
TRIM10	10107	broad.mit.edu	37	6	30122144	30122144	+	Missense_Mutation	SNP	G	G	A	rs146058085	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30122144G>A	ENST00000449742.2	-	7	1123	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	TRIM10_ENST00000376704.3_Missense_Mutation_p.R350W	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	350	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGGTGGCCCGGTCAAAACGT	0.607																																						ENST00000449742.2																			0				ovary(1)	1						c.(1048-1050)Cgg>Tgg		tripartite motif containing 10		G	TRP/ARG,TRP/ARG	1,3017		0,1,1508	51.0	56.0	54.0		1048,1048	4.2	1.0	6	dbSNP_134	54	1,5413		0,1,2706	no	missense,missense	TRIM10	NM_006778.3,NM_052828.2	101,101	0,2,4214	AA,AG,GG		0.0185,0.0331,0.0237	probably-damaging,probably-damaging	350/482,350/396	30122144	2,8430	1509	2707	4216	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30122144G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1048C>T	6.37:g.30122144G>A	ENSP00000397073:p.Arg350Trp					TRIM10_ENST00000376704.3_Missense_Mutation_p.R350W	p.R350W	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			7	1123	-			350			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1048C>T	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741984	0.69418	3.31E-4	1.85E-4	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.10860	2.83;2.83	6.01	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.137936	0.34411	N	0.003987	T	0.12689	0.0308	L	0.56769	1.78	0.33710	D	0.615629	D;D	0.89917	1.0;1.0	P;D	0.91635	0.892;0.999	T	0.05699	-1.0869	10	0.37606	T	0.19	.	4.9271	0.13898	0.1573:0.0:0.6513:0.1914	.	350;350	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	W	350	ENSP00000397073:R350W;ENSP00000365894:R350W	ENSP00000365894:R350W	R	-	1	2	TRIM10	30230123	0.000000	0.05858	1.000000	0.80357	0.959000	0.62525	-0.049000	0.11924	1.504000	0.48704	0.643000	0.83706	CGG		0.607	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			8	23	0	0	0	1	0	8	23				
RALGDS	5900	broad.mit.edu	37	9	135983469	135983469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135983469G>T	ENST00000372050.3	-	6	1124	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	RALGDS_ENST00000372062.3_Missense_Mutation_p.P339H|RALGDS_ENST00000393157.3_Missense_Mutation_p.P367H|RALGDS_ENST00000542690.1_Missense_Mutation_p.P439H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.P356H|RALGDS_ENST00000393160.3_Missense_Mutation_p.P313H	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	368					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGCAACCACAGGTGAAGGCCA	0.562			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(937-939)cCt>cAt		ral guanine nucleotide dissociation stimulator							93.0	87.0	89.0					9																	135983469		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135983469G>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1103C>A	9.37:g.135983469G>T	ENSP00000361120:p.Pro368His					RALGDS_ENST00000393157.3_Missense_Mutation_p.P367H|RALGDS_ENST00000372062.3_Missense_Mutation_p.P339H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.P356H|RALGDS_ENST00000372050.3_Missense_Mutation_p.P368H|RALGDS_ENST00000542690.1_Missense_Mutation_p.P439H	p.P313H	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	1291	-			368					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.938C>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427488	0.62733	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.27	4.3	0.51218	Ras guanine nucleotide exchange factor, domain (1);	0.317119	0.27554	N	0.018841	T	0.42607	0.1210	L	0.51422	1.61	0.09310	N	1	B;D;D;B;B;D;D;D	0.67145	0.016;0.978;0.996;0.122;0.08;0.985;0.985;0.993	B;P;P;B;B;P;P;P	0.62560	0.029;0.805;0.904;0.029;0.029;0.689;0.689;0.758	T	0.15867	-1.0422	10	0.48119	T	0.1	.	9.7255	0.40328	0.0:0.0:0.6988:0.3012	.	439;339;368;356;313;367;356;368	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	H	368;356;313;137;367;439;339	ENSP00000361120:P368H;ENSP00000361117:P356H;ENSP00000376867:P313H;ENSP00000376864:P367H;ENSP00000437518:P439H;ENSP00000361132:P339H	ENSP00000361117:P356H	P	-	2	0	RALGDS	134973290	0.727000	0.28069	0.019000	0.16419	0.232000	0.25224	1.917000	0.39996	2.473000	0.83533	0.655000	0.94253	CCT		0.562	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		25	38	1	0	3.6726e-16	1	4.7309e-16	25	38				
STAT1	6772	broad.mit.edu	37	2	191848459	191848459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191848459G>T	ENST00000361099.3	-	17	1742	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	STAT1_ENST00000392322.3_Missense_Mutation_p.S452Y|STAT1_ENST00000392323.2_Missense_Mutation_p.S454Y|STAT1_ENST00000409465.1_Missense_Mutation_p.S452Y|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	452					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AACGGGCAGAGAGGTCGTCTA	0.493																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1354-1356)tCt>tAt		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						81.0	75.0	77.0					2																	191848459		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191848459G>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1355C>A	2.37:g.191848459G>T	ENSP00000354394:p.Ser452Tyr					STAT1_ENST00000392323.2_Missense_Mutation_p.S454Y|STAT1_ENST00000392322.3_Missense_Mutation_p.S452Y|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.S452Y	p.S452Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		17	1742	-			452					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1355C>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956324	0.92726	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.19	5.19	0.71726	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.099906	0.64402	D	0.000001	D	0.94228	0.8147	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94869	0.8028	10	0.87932	D	0	-21.9157	19.2755	0.94030	0.0:0.0:1.0:0.0	.	452;452	P42224-2;P42224	.;STAT1_HUMAN	Y	452;452;452;454	ENSP00000354394:S452Y;ENSP00000386244:S452Y;ENSP00000376136:S452Y;ENSP00000376137:S454Y	ENSP00000354394:S452Y	S	-	2	0	STAT1	191556704	1.000000	0.71417	0.979000	0.43373	0.974000	0.67602	9.601000	0.98297	2.865000	0.98341	0.655000	0.94253	TCT		0.493	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		6	62	1	0	5.9392e-07	1	6.91975e-07	6	62				
ZNF536	9745	broad.mit.edu	37	19	30935223	30935223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935223G>A	ENST00000355537.3	+	2	901	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	252					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGACGTGGCCCACCCGGT	0.736																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(754-756)Gcc>Acc		zinc finger protein 536							5.0	6.0	6.0					19																	30935223		1986	3941	5927	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935223G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.754G>A	19.37:g.30935223G>A	ENSP00000347730:p.Ala252Thr						p.A252T	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	901	+	Esophageal squamous(110;0.0834)		252					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.754G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161304	0.01673	.	.	ENSG00000198597	ENST00000355537	T	0.08282	3.11	5.7	2.03	0.26663	.	0.357949	0.32548	N	0.005946	T	0.03783	0.0107	N	0.12182	0.205	0.23594	N	0.997331	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.45381	-0.9265	10	0.13853	T	0.58	-16.5084	6.8654	0.24091	0.1669:0.0:0.599:0.2341	.	252;252	A7E228;O15090	.;ZN536_HUMAN	T	252	ENSP00000347730:A252T	ENSP00000347730:A252T	A	+	1	0	ZNF536	35627063	0.862000	0.29867	0.907000	0.35723	0.617000	0.37484	1.342000	0.33919	0.754000	0.32968	0.491000	0.48974	GCC		0.736	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	6	0	0	0	1	0	6	6				
NELL2	4753	broad.mit.edu	37	12	45269650	45269650	+	Start_Codon_SNP	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45269650C>A	ENST00000429094.2	-	1	507	c.3G>T	c.(1-3)atG>atT	p.M1I	NELL2_ENST00000452445.2_Start_Codon_SNP_p.M1I|NELL2_ENST00000437801.2_Missense_Mutation_p.M51I|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000548826.1_Start_Codon_SNP_p.M1I|NELL2_ENST00000333837.4_Missense_Mutation_p.M24I|NELL2_ENST00000549027.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	1						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCCGAGACTCCATGGTGCGGA	0.502																																						ENST00000437801.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(151-153)atG>atT		NEL-like 2 (chicken)							90.0	96.0	94.0					12																	45269650		2203	4300	6503	SO:0001582	initiator_codon_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269650C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.3G>T	12.37:g.45269650C>A	ENSP00000390680:p.Met1Ile					NELL2_ENST00000429094.2_Start_Codon_SNP_p.M1I|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000548826.1_Start_Codon_SNP_p.M1I|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Start_Codon_SNP_p.M1I|NELL2_ENST00000333837.4_Missense_Mutation_p.M24I	p.M51I	NM_001145107.1	NP_001138579.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	2	524	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	1			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.153G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360785	0.61403	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	T;T;T;T;T;T;T	0.81330	-1.39;-1.39;-1.35;-1.48;2.81;1.53;-0.63	4.95	4.95	0.65309	.	0.271227	0.36002	N	0.002852	T	0.81912	0.4923	.	.	.	0.80722	D	1	P;B;P;P	0.35872	0.525;0.077;0.525;0.525	B;B;B;B	0.42214	0.38;0.019;0.38;0.38	T	0.83310	-0.0023	9	0.56958	D	0.05	-15.9143	17.3194	0.87232	0.0:1.0:0.0:0.0	.	24;51;1;1	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	I	1;1;24;51;1;1;1	ENSP00000390680:M1I;ENSP00000394612:M1I;ENSP00000327988:M24I;ENSP00000416341:M51I;ENSP00000447085:M1I;ENSP00000448635:M1I;ENSP00000446961:M1I	ENSP00000327988:M24I	M	-	3	0	NELL2	43555917	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.335000	0.59298	2.442000	0.82660	0.650000	0.86243	ATG		0.502	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	Missense_Mutation	32	56	1	0	1.08312e-15	1	1.39118e-15	32	56				
TRDJ1	28522	broad.mit.edu	37	14	22919132	22919132	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22919132G>A	ENST00000390473.1	+	0	51				AE000661.37_ENST00000514473.2_RNA|TRDD3_ENST00000448914.1_RNA					T cell receptor delta joining 1																		GTGGAACCAAGTAAGTAACTC	0.438																																						ENST00000514473.2																			0																				93.0	103.0	100.0					14																	22919132		1860	4098	5958			0							g.chr14:22919132G>A	M20289		14q11.2	2012-02-07			ENSG00000211825	ENSG00000211825		"""T cell receptors / TRD locus"""	12257	other	T cell receptor gene						2836865	Standard	NG_001332		Approved				OTTHUMG00000170847		14.37:g.22919132G>A														0	225	-									RNA	SNP	ENST00000390473.1	37																																																																																						0.438	TRDJ1-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410673.1	NG_001332		18	31	0	0	0	1	0	18	31				
CCDC7	79741	broad.mit.edu	37	10	33135326	33135326	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33135326A>G	ENST00000375030.2	+	18	1851	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	C10orf68_ENST00000375025.4_Silent_p.K516K|C10orf68_ENST00000375028.3_Silent_p.K456K			Q9H943	CJ068_HUMAN		452										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AACTCTTAAAAGATGCTATTG	0.294																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1231-1233)aaA>aaG		chromosome 10 open reading frame 68							44.0	48.0	47.0					10																	33135326		2199	4276	6475	SO:0001819	synonymous_variant	79741							g.chr10:33135326A>G																												ENST00000375030.2:c.1233A>G	10.37:g.33135326A>G						C10orf68_ENST00000375028.3_Silent_p.K456K|C10orf68_ENST00000375025.4_Silent_p.K516K	p.K411K			Q9H943	CJ068_HUMAN			18	1851	+			452					B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375030.2	37	c.1233A>G																																																																																					0.294	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			21	26	0	0	0	1	0	21	26				
TOE1	114034	broad.mit.edu	37	1	45807687	45807687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45807687G>A	ENST00000372090.5	+	5	983	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TOE1_ENST00000539779.1_Missense_Mutation_p.E54K|MUTYH_ENST00000448481.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000450313.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	134						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GTATGTCATAGAACCAAAGTC	0.468																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(400-402)Gaa>Aaa		target of EGR1, member 1 (nuclear)							161.0	134.0	143.0					1																	45807687		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45807687G>A		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.400G>A	1.37:g.45807687G>A	ENSP00000361162:p.Glu134Lys					TOE1_ENST00000539779.1_Missense_Mutation_p.E54K|TOE1_ENST00000495703.1_3'UTR	p.E134K	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			5	983	+	Acute lymphoblastic leukemia(166;0.155)		134					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.400G>A	CCDS521.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469360	0.96274	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.23754	1.89;1.89	5.66	5.66	0.87406	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.983	T	0.57533	-0.7795	10	0.66056	D	0.02	-15.8315	19.7398	0.96223	0.0:0.0:1.0:0.0	.	140;54;134	B4DP23;B4DEM6;Q96GM8	.;.;TOE1_HUMAN	K	134;54	ENSP00000361162:E134K;ENSP00000438900:E54K	ENSP00000361162:E134K	E	+	1	0	TOE1	45580274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.771000	0.98977	2.665000	0.90641	0.561000	0.74099	GAA		0.468	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		19	42	0	0	0	1	0	19	42				
FASN	2194	broad.mit.edu	37	17	80039944	80039944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80039944C>T	ENST00000306749.2	-	36	6322	c.6104G>A	c.(6103-6105)gGc>gAc	p.G2035D	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2035	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ATTGGCAAAGCCGTAGTTGCT	0.652																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(6103-6105)gGc>gAc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						90.0	89.0	89.0					17																	80039944		2202	4298	6500	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80039944C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6104G>A	17.37:g.80039944C>T	ENSP00000304592:p.Gly2035Asp					FASN_ENST00000579758.1_5'UTR	p.G2035D	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		36	6322	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2035			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.6104G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374439	0.61735	.	.	ENSG00000169710	ENST00000306749	T	0.49139	0.79	4.6	4.6	0.57074	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70784	-0.4778	10	0.87932	D	0	-34.4699	17.3931	0.87437	0.0:1.0:0.0:0.0	.	2035	P49327	FAS_HUMAN	D	2035	ENSP00000304592:G2035D	ENSP00000304592:G2035D	G	-	2	0	FASN	77633233	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.265000	0.78442	2.103000	0.63969	0.313000	0.20887	GGC		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		4	59	0	0	0	1	0	4	59				
SSPN	8082	broad.mit.edu	37	12	26383894	26383894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383894G>A	ENST00000242729.2	+	3	794	c.617G>A	c.(616-618)gGc>gAc	p.G206D	RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000541940.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.G103D|SSPN_ENST00000540266.1_Missense_Mutation_p.G103D|RP11-283G6.4_ENST00000540392.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	206					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TTGGTCTGCGGCCTTGTGTGC	0.507																																						ENST00000242729.2																			0				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(616-618)gGc>gAc		sarcospan							198.0	176.0	183.0					12																	26383894		2203	4300	6503	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26383894G>A	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.617G>A	12.37:g.26383894G>A	ENSP00000242729:p.Gly206Asp					SSPN_ENST00000422622.2_Missense_Mutation_p.G103D|SSPN_ENST00000535504.1_Intron|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000540266.1_Missense_Mutation_p.G103D|RP11-283G6.5_ENST00000540625.1_RNA	p.G206D	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN			3	794	+	Colorectal(261;0.0847)		206					B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.617G>A	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458840	0.63401	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067	T;T;T;T	0.02258	4.37;4.37;4.37;4.37	4.81	3.85	0.44370	.	0.348024	0.32343	N	0.006240	T	0.03564	0.0102	L	0.40543	1.245	0.80722	D	1	P	0.42518	0.782	B	0.43445	0.42	T	0.52518	-0.8565	10	0.72032	D	0.01	-6.3575	13.6667	0.62401	0.0:0.2537:0.7463:0.0	.	206	Q14714	SSPN_HUMAN	D	103;103;103;206;180	ENSP00000445360:G103D;ENSP00000442893:G103D;ENSP00000396087:G103D;ENSP00000242729:G206D	ENSP00000242729:G206D	G	+	2	0	SSPN	26275161	0.998000	0.40836	0.963000	0.40424	0.996000	0.88848	3.430000	0.52807	2.396000	0.81511	0.563000	0.77884	GGC		0.507	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		29	52	0	0	0	1	0	29	52				
TPCN1	53373	broad.mit.edu	37	12	113714766	113714766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113714766C>T	ENST00000335509.6	+	11	1299	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	TPCN1_ENST00000392569.4_Missense_Mutation_p.R261C|TPCN1_ENST00000550785.1_Missense_Mutation_p.R401C|TPCN1_ENST00000541517.1_Missense_Mutation_p.R401C	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	329					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CATTGAGAAACGCAAGTTCAA	0.557																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1201-1203)Cgc>Tgc		two pore segment channel 1							200.0	194.0	196.0					12																	113714766		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113714766C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.985C>T	12.37:g.113714766C>T	ENSP00000335300:p.Arg329Cys					TPCN1_ENST00000541517.1_Missense_Mutation_p.R401C|TPCN1_ENST00000392569.4_Missense_Mutation_p.R261C|TPCN1_ENST00000335509.6_Missense_Mutation_p.R329C	p.R401C	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			12	1370	+			329					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1201C>T	CCDS31908.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.98|17.98	3.520812|3.520812	0.64747|0.64747	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569|ENST00000546781	D;D;D;D|.	0.97161|.	-4.16;-4.27;-4.27;-4.24|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.231264|.	0.40469|.	N|.	0.001099|.	T|T	0.50205|0.50205	0.1602|0.1602	N|N	0.22421|0.22421	0.69|0.69	0.43283|0.43283	D|D	0.995258|0.995258	D;D;P|.	0.71674|.	0.991;0.998;0.917|.	B;P;B|.	0.52856|.	0.446;0.711;0.326|.	T|T	0.44174|0.44174	-0.9345|-0.9345	10|5	0.87932|.	D|.	0|.	-12.0106|-12.0106	12.4564|12.4564	0.55706|0.55706	0.2765:0.7235:0.0:0.0|0.2765:0.7235:0.0:0.0	.|.	329;401;329|.	A5PKY2;Q9ULQ1-3;Q9ULQ1|.	.;.;TPC1_HUMAN|.	C|M	329;401;401;261|15	ENSP00000335300:R329C;ENSP00000448083:R401C;ENSP00000438125:R401C;ENSP00000376350:R261C|.	ENSP00000335300:R329C|.	R|T	+|+	1|2	0|0	TPCN1|TPCN1	112199149|112199149	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.940000|0.940000	0.58332|0.58332	3.584000|3.584000	0.53936|0.53936	2.618000|2.618000	0.88619|0.88619	0.609000|0.609000	0.83330|0.83330	CGC|ACG		0.557	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		82	145	0	0	0	1	0	82	145				
ADAM33	80332	broad.mit.edu	37	20	3652947	3652947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652947C>A	ENST00000356518.2	-	14	1672	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	ADAM33_ENST00000379861.4_Missense_Mutation_p.Q477H|ADAM33_ENST00000350009.2_Missense_Mutation_p.Q477H|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	477	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CACCCATGGCCTGGCGGCACA	0.662																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1429-1431)caG>caT		ADAM metallopeptidase domain 33							55.0	55.0	55.0					20																	3652947		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652947C>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1431G>T	20.37:g.3652947C>A	ENSP00000348912:p.Gln477His					ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.Q477H|ADAM33_ENST00000350009.2_Missense_Mutation_p.Q477H	p.Q477H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			14	1672	-			477			Disintegrin.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1431G>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	c	17.95	3.514178	0.64522	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.11821	2.74;2.74;2.74	4.6	-0.0913	0.13661	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.09379	0.0231	N	0.14661	0.345	0.09310	N	1	P;P;P	0.52577	0.943;0.954;0.954	P;P;P	0.51229	0.532;0.663;0.663	T	0.15464	-1.0436	9	0.45353	T	0.12	.	0.2936	0.00262	0.1953:0.2711:0.1934:0.3402	.	477;477;477	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	H	477;477;477;357	ENSP00000348912:Q477H;ENSP00000369190:Q477H;ENSP00000322550:Q477H	ENSP00000322550:Q477H	Q	-	3	2	ADAM33	3600947	0.000000	0.05858	0.040000	0.18447	0.302000	0.27658	-2.949000	0.00679	0.132000	0.18615	0.457000	0.33378	CAG		0.662	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		5	72	1	0	0.0215528	1	0.0221649	5	72				
DCHS1	8642	broad.mit.edu	37	11	6662069	6662069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6662069C>T	ENST00000299441.3	-	2	1187	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTAGCGGCTCTGATT	0.607																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(775-777)cGc>cAc		dachsous cadherin-related 1							84.0	87.0	86.0					11																	6662069		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662069C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.776G>A	11.37:g.6662069C>T	ENSP00000299441:p.Arg259His						p.R259H	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1187	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	259			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.776G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195647	0.78902	.	.	ENSG00000166341	ENST00000299441	T	0.60920	0.15	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.000000	0.46758	D	0.000268	T	0.60508	0.2274	N	0.12422	0.21	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.65001	-0.6274	10	0.40728	T	0.16	.	17.3033	0.87188	0.0:1.0:0.0:0.0	.	259	Q96JQ0	PCD16_HUMAN	H	259	ENSP00000299441:R259H	ENSP00000299441:R259H	R	-	2	0	DCHS1	6618645	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.053000	0.71089	2.312000	0.78011	0.544000	0.68410	CGC		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		39	55	0	0	0	1	0	39	55				
GLIS3	169792	broad.mit.edu	37	9	4125771	4125771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4125771T>C	ENST00000324333.10	-	2	287	c.94A>G	c.(94-96)Aat>Gat	p.N32D	GLIS3_ENST00000381971.3_Missense_Mutation_p.N187D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	32					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGGCTGCATTCATTGCCCTC	0.463																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(94-96)Aat>Gat		GLIS family zinc finger 3							229.0	201.0	210.0					9																	4125771		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4125771T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.94A>G	9.37:g.4125771T>C	ENSP00000325494:p.Asn32Asp					GLIS3_ENST00000381971.3_Missense_Mutation_p.N187D	p.N32D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	287	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	32					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.94A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866019	0.32977	.	.	ENSG00000107249	ENST00000324333;ENST00000381971;ENST00000477901;ENST00000478844;ENST00000481827;ENST00000478315;ENST00000462164	T;T	0.11063	2.9;2.81	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000037	T	0.06872	0.0175	N	0.12182	0.205	0.28063	N	0.932884	B;B;B	0.11235	0.001;0.004;0.003	B;B;B	0.14023	0.002;0.01;0.003	T	0.15009	-1.0452	10	0.51188	T	0.08	.	10.3137	0.43723	0.0:0.0841:0.0:0.9159	.	62;187;32	Q1PHJ1;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	D	32;187;187;32;187;32;32	ENSP00000325494:N32D;ENSP00000371398:N187D	ENSP00000325494:N32D	N	-	1	0	GLIS3	4115771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.863000	0.48396	2.126000	0.65437	0.529000	0.55759	AAT		0.463	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		35	70	0	0	0	1	0	35	70				
SLC15A2	6565	broad.mit.edu	37	3	121634112	121634112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121634112G>A	ENST00000489711.1	+	6	955	c.567G>A	c.(565-567)ctG>ctA	p.L189L	SLC15A2_ENST00000295605.2_Silent_p.L158L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	189					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCTTCTACCTGTCCATCAATG	0.478																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(565-567)ctG>ctA		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						182.0	158.0	166.0					3																	121634112		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121634112G>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.567G>A	3.37:g.121634112G>A						SLC15A2_ENST00000295605.2_Silent_p.L158L	p.L189L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	6	955	+			189					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.567G>A	CCDS3007.1																																																																																				0.478	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		7	72	0	0	0	1	0	7	72				
MGLL	11343	broad.mit.edu	37	3	127413948	127413948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127413948C>T	ENST00000434178.2	-	7	1552	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	MGLL_ENST00000265052.5_Missense_Mutation_p.R229Q|MGLL_ENST00000398104.1_Missense_Mutation_p.R219Q|MGLL_ENST00000453507.2_Missense_Mutation_p.R199Q|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000398101.3_Missense_Mutation_p.R193Q			Q99685	MGLL_HUMAN	monoglyceride lipase	219					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCGCTCCACCCGTGAGACGGC	0.607																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(655-657)cGg>cAg		monoglyceride lipase							51.0	59.0	56.0					3																	127413948		2102	4216	6318	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127413948C>T	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.656G>A	3.37:g.127413948C>T	ENSP00000402798:p.Arg219Gln					MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000398101.3_Missense_Mutation_p.R193Q|MGLL_ENST00000265052.5_Missense_Mutation_p.R229Q|MGLL_ENST00000398104.1_Missense_Mutation_p.R219Q|MGLL_ENST00000453507.2_Missense_Mutation_p.R199Q	p.R219Q			Q99685	MGLL_HUMAN			7	1552	-			219					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.656G>A	CCDS43148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.95|17.95	3.514164|3.514164	0.64522|0.64522	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000496306|ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000536024;ENST00000453507;ENST00000484451	.|T;T;T;T;T	.|0.76186	.|-1.0;-1.0;-1.0;-1.0;-0.25	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62429|0.62429	0.2427|0.2427	L|L	0.39397|0.39397	1.21|1.21	0.45554|0.45554	D|D	0.998503|0.998503	.|P;P;P;P	.|0.46395	.|0.526;0.553;0.62;0.877	.|B;B;B;B	.|0.40038	.|0.059;0.077;0.133;0.317	T|T	0.60601|0.60601	-0.7231|-0.7231	5|10	.|0.10902	.|T	.|0.67	-27.2352|-27.2352	12.7438|12.7438	0.57268|0.57268	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	.|199;219;229;193	.|B7Z9D1;Q99685;B3KRC2;E7EWX8	.|.;MGLL_HUMAN;.;.	R|Q	125|219;229;219;193;229;199;113	.|ENSP00000402798:R219Q;ENSP00000265052:R229Q;ENSP00000381176:R219Q;ENSP00000381173:R193Q;ENSP00000419340:R113Q	.|ENSP00000265052:R229Q	G|R	-|-	1|2	0|0	MGLL|MGLL	128896638|128896638	0.354000|0.354000	0.24912|0.24912	0.534000|0.534000	0.28014|0.28014	0.913000|0.913000	0.54294|0.54294	1.744000|1.744000	0.38268|0.38268	2.317000|2.317000	0.78254|0.78254	0.591000|0.591000	0.81541|0.81541	GGG|CGG		0.607	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		7	51	0	0	0	1	0	7	51				
KDM6B	23135	broad.mit.edu	37	17	7753424	7753424	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753424T>C	ENST00000448097.2	+	13	3933	c.3602T>C	c.(3601-3603)cTg>cCg	p.L1201P	KDM6B_ENST00000254846.5_Missense_Mutation_p.L1201P			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1201					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCACCTGTCCTGCTGCAGTTC	0.622																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3601-3603)cTg>cCg		lysine (K)-specific demethylase 6B							76.0	67.0	70.0					17																	7753424		2202	4300	6502	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7753424T>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3602T>C	17.37:g.7753424T>C	ENSP00000412513:p.Leu1201Pro					KDM6B_ENST00000448097.2_Missense_Mutation_p.L1201P	p.L1201P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			13	3991	+			1201					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3602T>C		.	.	.	.	.	.	.	.	.	.	T	16.93	3.257677	0.59321	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	D;D	0.81659	-1.52;-1.52	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000003	D	0.90321	0.6972	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.91861	0.5499	10	0.87932	D	0	-8.6992	14.7291	0.69368	0.0:0.0:0.0:1.0	.	1201;1201	O15054;O15054-1	KDM6B_HUMAN;.	P	1201	ENSP00000254846:L1201P;ENSP00000412513:L1201P	ENSP00000254846:L1201P	L	+	2	0	KDM6B	7694149	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.468000	0.80943	2.198000	0.70561	0.533000	0.62120	CTG		0.622	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		12	18	0	0	0	1	0	12	18				
DDX26B	203522	broad.mit.edu	37	X	134681061	134681061	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134681061G>A	ENST00000370752.4	+	6	947		c.e6-1		DDX26B_ENST00000481908.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGATAGGTCGCTCCTA	0.274																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.e6-1		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							120.0	120.0	120.0					X																	134681061		2203	4300	6503	SO:0001630	splice_region_variant	203522							g.chrX:134681061G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.614-1G>A	X.37:g.134681061G>A						DDX26B_ENST00000493637.1_Splice_Site		NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			6	947	+	Acute lymphoblastic leukemia(192;6.56e-05)							Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Splice_Site	SNP	ENST00000370752.4	37		CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311236	0.60414	.	.	ENSG00000165359	ENST00000370752	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9536	0.86252	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX26B	134508727	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	9.796000	0.99103	2.210000	0.71456	0.529000	0.55759	.		0.274	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Intron	70	116	0	0	0	1	0	70	116				
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161173248G>A	ENST00000308192.9	+	18	2290	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	743	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(2227-2229)Gaa>Aaa		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						83.0	81.0	81.0					6																	161173248		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161173248G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2227G>A	6.37:g.161173248G>A	ENSP00000308938:p.Glu743Lys						p.E743K	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	18	2290	+			743			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2227G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	18.19	3.569645	0.65765	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.88586	-2.4	3.38	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39475	U	0.001359	D	0.87132	0.6101	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89881	0.4030	10	0.72032	D	0.01	.	14.6685	0.68926	0.0:0.0:1.0:0.0	.	743	P00747	PLMN_HUMAN	K	743;143	ENSP00000308938:E743K	ENSP00000308938:E743K	E	+	1	0	PLG	161093238	1.000000	0.71417	0.011000	0.14972	0.394000	0.30568	4.769000	0.62300	1.582000	0.49881	0.411000	0.27672	GAA		0.488	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		19	49	0	0	0	1	0	19	49				
SMC1B	27127	broad.mit.edu	37	22	45802461	45802461	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45802461T>C	ENST00000357450.4	-	4	494	c.495A>G	c.(493-495)atA>atG	p.I165M	SMC1B_ENST00000404354.3_Missense_Mutation_p.I165M	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	165					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATATTCTCCTATAAGCTCTC	0.358																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(493-495)atA>atG		structural maintenance of chromosomes 1B							78.0	71.0	73.0					22																	45802461		1809	4071	5880	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45802461T>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.495A>G	22.37:g.45802461T>C	ENSP00000350036:p.Ile165Met					SMC1B_ENST00000404354.3_Missense_Mutation_p.I165M	p.I165M	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	4	494	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	165					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.495A>G	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	9.378	1.072256	0.20147	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.80653	-1.4;3.27	5.74	0.924	0.19418	.	0.527730	0.18697	N	0.133715	T	0.66076	0.2753	L	0.36672	1.1	0.24081	N	0.995944	B;B	0.16396	0.014;0.017	B;B	0.19666	0.026;0.023	T	0.56986	-0.7888	10	0.66056	D	0.02	.	1.4191	0.02308	0.2018:0.1704:0.1026:0.5252	.	165;165	Q8NDV3-2;Q8NDV3-3	.;.	M	165	ENSP00000350036:I165M;ENSP00000385902:I165M	ENSP00000350036:I165M	I	-	3	3	SMC1B	44181125	0.007000	0.16637	0.923000	0.36655	0.501000	0.33797	0.255000	0.18333	0.109000	0.17891	0.459000	0.35465	ATA		0.358	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		24	45	0	0	0	1	0	24	45				
ZNF662	389114	broad.mit.edu	37	3	42956626	42956626	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956626A>G	ENST00000541208.1	+	5	1430	c.1061A>G	c.(1060-1062)cAc>cGc	p.H354R	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.H380R|ZNF662_ENST00000440367.2_Missense_Mutation_p.H354R|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAGAGGGTCCACACTGGGGAC	0.488																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1060-1062)cAc>cGc		zinc finger protein 662							84.0	82.0	83.0					3																	42956626		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956626A>G	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1061A>G	3.37:g.42956626A>G	ENSP00000446208:p.His354Arg					ZNF662_ENST00000440367.2_Missense_Mutation_p.H354R|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.H380R|KRBOX1_ENST00000426937.1_Intron	p.H354R			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1430	+			354					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1061A>G	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.746853	0.49257	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.67523	-0.27;-0.27;-0.27	3.27	3.27	0.37495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83571	0.5283	M	0.92219	3.285	0.38308	D	0.943189	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.87137	0.2200	9	0.87932	D	0	.	9.8958	0.41318	1.0:0.0:0.0:0.0	.	380;354	F8W7S8;Q6ZS27	.;ZN662_HUMAN	R	354;380;354	ENSP00000405047:H354R;ENSP00000329264:H380R;ENSP00000446208:H354R	ENSP00000329264:H380R	H	+	2	0	ZNF662	42931630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.308000	0.89966	1.512000	0.48834	0.528000	0.53228	CAC		0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		27	24	0	0	0	1	0	27	24				
MAP3K7	6885	broad.mit.edu	37	6	91263201	91263201	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:91263201G>T	ENST00000369329.3	-	7	873	c.712C>A	c.(712-714)Cga>Aga	p.R238R	MAP3K7_ENST00000369327.3_Silent_p.R238R|MAP3K7_ENST00000369325.3_Silent_p.R238R|MAP3K7_ENST00000369320.1_5'Flank|MAP3K7_ENST00000369332.3_Silent_p.R238R	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	238	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACATGATTCGGAAAGCTGGG	0.403																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(712-714)Cga>Aga		mitogen-activated protein kinase kinase kinase 7							100.0	105.0	103.0					6																	91263201		2203	4300	6503	SO:0001819	synonymous_variant	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91263201G>T	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.712C>A	6.37:g.91263201G>T						MAP3K7_ENST00000369325.3_Silent_p.R238R|MAP3K7_ENST00000369327.3_Silent_p.R238R|MAP3K7_ENST00000369332.3_Silent_p.R238R	p.R238R	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	7	873	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	238			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	37	c.712C>A	CCDS5028.1																																																																																				0.403	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		5	107	1	0	4.096e-09	1	4.95403e-09	5	107				
ISG15	9636	broad.mit.edu	37	1	949506	949506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:949506C>T	ENST00000379389.4	+	2	297	c.146C>T	c.(145-147)cCg>cTg	p.P49L	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	49	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGTCCACCCGAGCGGTGTG	0.667																																						ENST00000379389.4																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(145-147)cCg>cTg		ISG15 ubiquitin-like modifier							47.0	49.0	48.0					1																	949506		2203	4300	6503	SO:0001583	missense	9636				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949506C>T	BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.146C>T	1.37:g.949506C>T	ENSP00000368699:p.Pro49Leu						p.P49L	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	297	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	49			Ubiquitin-like 1.		Q5SVA4|Q7Z2G2|Q96GF0	Missense_Mutation	SNP	ENST00000379389.4	37	c.146C>T	CCDS6.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391049	0.25118	.	.	ENSG00000187608	ENST00000379389	T	0.29142	1.58	3.72	-0.965	0.10323	Ubiquitin supergroup (1);Ubiquitin (2);	1.971730	0.02115	N	0.055154	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	P	0.43826	0.818	B	0.33196	0.159	T	0.24119	-1.0169	10	0.87932	D	0	-1.3993	6.6788	0.23110	0.5524:0.2914:0.1562:0.0	.	49	P05161	ISG15_HUMAN	L	49	ENSP00000368699:P49L	ENSP00000368699:P49L	P	+	2	0	ISG15	939369	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.041000	0.12084	-0.151000	0.11176	0.561000	0.74099	CCG		0.667	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1	NM_005101		4	50	0	0	0	1	0	4	50				
TTN	7273	broad.mit.edu	37	2	179403465	179403465	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403465G>A	ENST00000591111.1	-	304	94392	c.94168C>T	c.(94168-94170)Ctt>Ttt	p.L31390F	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23966F|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24091F|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30463F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33031F|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24158F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31390	Fibronectin type-III 129. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTATCCAAGAATTTCTTTA	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(99091-99093)Ctt>Ttt		titin							219.0	210.0	213.0					2																	179403465		1891	4122	6013	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403465G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94168C>T	2.37:g.179403465G>A	ENSP00000465570:p.Leu31390Phe					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23966F|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30463F|TTN_ENST00000359218.5_Missense_Mutation_p.L24091F|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24158F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L31390F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA	p.L33031F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		354	99315	-			31390					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.99091C>T		.	.	.	.	.	.	.	.	.	.	G	16.37	3.103132	0.56183	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.87	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73497	0.3594	M	0.82630	2.6	0.45378	D	0.998365	D;D;D;D	0.58268	0.982;0.982;0.982;0.982	P;P;P;P	0.60473	0.875;0.875;0.875;0.875	T	0.77749	-0.2471	9	0.87932	D	0	.	11.1703	0.48567	0.0667:0.0:0.8054:0.1279	.	23966;24091;24158;31390	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30463;23966;24158;24091;23963	ENSP00000343764:L30463F;ENSP00000434586:L23966F;ENSP00000340554:L24158F;ENSP00000352154:L24091F	ENSP00000340554:L24158F	L	-	1	0	TTN	179111711	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.677000	0.61634	1.602000	0.50124	0.655000	0.94253	CTT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	114	0	0	0	1	0	54	114				
ELAC2	60528	broad.mit.edu	37	17	12898155	12898155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12898155G>A	ENST00000338034.4	-	21	2194	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A633V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A612V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	652					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGCACCAGCGCACAGCCAAA	0.622																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1954-1956)gCg>gTg		elaC ribonuclease Z 2							58.0	60.0	60.0					17																	12898155		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12898155G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1955C>T	17.37:g.12898155G>A	ENSP00000337445:p.Ala652Val					ELAC2_ENST00000395962.2_Missense_Mutation_p.A633V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A612V	p.A652V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			21	2194	-			652					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1955C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860240	0.51482	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.52295	0.67;0.67;0.67	5.35	5.35	0.76521	Beta-lactamase-like (1);	0.163913	0.56097	D	0.000035	T	0.20210	0.0486	N	0.00879	-1.12	0.38201	D	0.94018	B;B;B;B;B;B;B;B	0.34313	0.141;0.003;0.052;0.006;0.448;0.065;0.006;0.01	B;B;B;B;B;B;B;B	0.35073	0.047;0.005;0.031;0.003;0.195;0.014;0.031;0.003	T	0.32824	-0.9892	10	0.13108	T	0.6	-27.2567	16.5911	0.84765	0.0:0.0:1.0:0.0	.	612;635;633;450;652;412;637;280	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	612;652;633	ENSP00000405223:A612V;ENSP00000337445:A652V;ENSP00000379291:A633V	ENSP00000337445:A652V	A	-	2	0	ELAC2	12838880	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	5.048000	0.64238	2.781000	0.95711	0.655000	0.94253	GCG		0.622	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			13	58	0	0	0	1	0	13	58				
MIOS	54468	broad.mit.edu	37	7	7625343	7625343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7625343G>A	ENST00000340080.4	+	7	2146	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	MIOS_ENST00000405785.1_Missense_Mutation_p.M575I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	575						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAGAGAAATGTGTAGCACAC	0.408																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1723-1725)atG>atA		missing oocyte, meiosis regulator, homolog (Drosophila)							165.0	159.0	161.0					7																	7625343		1891	4109	6000	SO:0001583	missense	54468							g.chr7:7625343G>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1725G>A	7.37:g.7625343G>A	ENSP00000339881:p.Met575Ile					MIOS_ENST00000405785.1_Missense_Mutation_p.M575I	p.M575I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			7	2146	+			575					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1725G>A	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607506	0.46527	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.42131	0.98;0.98	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	L	0.39245	1.2	0.80722	D	1	B	0.18461	0.028	B	0.20955	0.032	T	0.10405	-1.0631	10	0.33141	T	0.24	-18.7081	19.6756	0.95930	0.0:0.0:1.0:0.0	.	575	Q9NXC5	MIO_HUMAN	I	575	ENSP00000339881:M575I;ENSP00000384088:M575I	ENSP00000339881:M575I	M	+	3	0	MIOS	7591868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.389000	0.97243	2.722000	0.93159	0.655000	0.94253	ATG		0.408	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		128	99	0	0	0	1	0	128	99				
PDZD4	57595	broad.mit.edu	37	X	153069213	153069213	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069213G>A	ENST00000164640.4	-	8	2096	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	PDZD4_ENST00000393758.2_Silent_p.Y560Y|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Silent_p.Y526Y	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	635						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGGCCACGTAGCGGGTTC	0.706																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1903-1905)taC>taT		PDZ domain containing 4							39.0	38.0	38.0					X																	153069213		2201	4291	6492	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153069213G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1905C>T	X.37:g.153069213G>A						PDZD4_ENST00000544474.1_Silent_p.Y526Y|PDZD4_ENST00000393758.2_Silent_p.Y560Y	p.Y635Y	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	2096	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		635					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.1905C>T	CCDS14732.1																																																																																				0.706	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		21	44	0	0	0	1	0	21	44				
RND2	8153	broad.mit.edu	37	17	41180611	41180611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41180611C>T	ENST00000587250.2	+	5	705	c.598C>T	c.(598-600)Cga>Tga	p.R200*	CTD-3199J23.4_ENST00000225973.5_lincRNA|RND2_ENST00000544533.1_Nonsense_Mutation_p.R201*			P52198	RND2_HUMAN	Rho family GTPase 2	200					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAATGCAGCGATCCGCTCA	0.622																																						ENST00000544533.1																			0				large_intestine(1)|skin(1)	2						c.(601-603)Cga>Tga		Rho family GTPase 2							47.0	43.0	44.0					17																	41180611		2203	4300	6503	SO:0001587	stop_gained	8153				small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity	g.chr17:41180611C>T	X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.598C>T	17.37:g.41180611C>T	ENSP00000466680:p.Arg200*					RND2_ENST00000587250.2_Nonsense_Mutation_p.R200*	p.R201*	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	5	708	+		Breast(137;0.000717)	200					A8K2D4|O00690|O00734|Q5U0P6|Q99535	Nonsense_Mutation	SNP	ENST00000587250.2	37	c.601C>T	CCDS11452.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953593	0.92660	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	.	.	.	5.17	1.79	0.24919	.	0.659654	0.15229	N	0.273529	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4427	0.67327	0.4889:0.5111:0.0:0.0	.	.	.	.	X	201;200	.	ENSP00000225973:R200X	R	+	1	2	RND2	38434137	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	0.928000	0.28831	0.718000	0.32166	0.655000	0.94253	CGA		0.622	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		4	16	0	0	0	1	0	4	16				
ZNF180	7733	broad.mit.edu	37	19	44980826	44980826	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44980826C>A	ENST00000221327.4	-	5	2153	c.1872G>T	c.(1870-1872)caG>caT	p.Q624H	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q597H|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q599H|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TATGAGTTCTCTGATGTTGAG	0.403																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1870-1872)caG>caT		zinc finger protein 180							126.0	125.0	125.0					19																	44980826		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44980826C>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1872G>T	19.37:g.44980826C>A	ENSP00000221327:p.Gln624His					ZNF180_ENST00000391956.4_Missense_Mutation_p.Q599H|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q597H	p.Q624H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	2153	-		Prostate(69;0.0435)	624					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1872G>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084788	0.55861	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.18502	2.21;2.21	5.66	3.4	0.38934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39909	N	0.001226	T	0.10294	0.0252	N	0.19112	0.55	0.80722	D	1	B;B;B	0.32396	0.319;0.369;0.369	B;B;B	0.28385	0.053;0.089;0.089	T	0.12915	-1.0529	10	0.87932	D	0	-17.6615	9.1804	0.37138	0.1436:0.7754:0.0:0.081	.	599;623;624	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	H	624;599	ENSP00000221327:Q624H;ENSP00000375818:Q599H	ENSP00000221327:Q624H	Q	-	3	2	ZNF180	49672666	0.058000	0.20735	1.000000	0.80357	0.985000	0.73830	0.524000	0.22940	1.330000	0.45394	0.591000	0.81541	CAG		0.403	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		12	104	1	0	5.50884e-06	1	6.28354e-06	12	104				
INPP4B	8821	broad.mit.edu	37	4	143044465	143044465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143044465T>C	ENST00000513000.1	-	21	2430	c.1997A>G	c.(1996-1998)gAa>gGa	p.E666G	INPP4B_ENST00000509777.1_Missense_Mutation_p.E666G|INPP4B_ENST00000508116.1_Missense_Mutation_p.E666G|INPP4B_ENST00000308502.4_Missense_Mutation_p.E666G|INPP4B_ENST00000262992.4_Missense_Mutation_p.E666G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	666					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TAGCAGTCCTTCATATTGTAC	0.363																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1996-1998)gAa>gGa		inositol polyphosphate-4-phosphatase, type II, 105kDa							126.0	125.0	126.0					4																	143044465		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143044465T>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1997A>G	4.37:g.143044465T>C	ENSP00000425487:p.Glu666Gly					INPP4B_ENST00000308502.4_Missense_Mutation_p.E666G|INPP4B_ENST00000508116.1_Missense_Mutation_p.E666G|INPP4B_ENST00000262992.4_Missense_Mutation_p.E666G|INPP4B_ENST00000509777.1_Missense_Mutation_p.E666G	p.E666G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			21	2430	-	all_hematologic(180;0.158)		666					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.1997A>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941691	0.73557	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.80714	-0.1259	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	537;666	B7Z6T2;O15327	.;INP4B_HUMAN	G	666;666;666;537;666;666;481;481;666;537	ENSP00000425487:E666G;ENSP00000262992:E666G;ENSP00000308441:E666G;ENSP00000423954:E666G;ENSP00000422793:E666G;ENSP00000426207:E481G;ENSP00000427250:E666G;ENSP00000421065:E537G	ENSP00000262992:E666G	E	-	2	0	INPP4B	143263915	1.000000	0.71417	0.999000	0.59377	0.390000	0.30446	7.303000	0.78871	2.313000	0.78055	0.455000	0.32223	GAA		0.363	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		5	79	0	0	0	1	0	5	79				
FOXN4	121643	broad.mit.edu	37	12	109719350	109719350	+	Missense_Mutation	SNP	C	C	T	rs368801239		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719350C>T	ENST00000299162.5	-	9	1260	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A206T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	386					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657																																						ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1156-1158)Gcc>Acc		forkhead box N4		C	THR/ALA	0,4404		0,0,2202	34.0	28.0	30.0		1156	3.6	0.8	12		30	1,8597	1.2+/-3.3	0,1,4298	no	missense	FOXN4	NM_213596.2	58	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	386/518	109719350	1,13001	2202	4299	6501	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719350C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1156G>A	12.37:g.109719350C>T	ENSP00000299162:p.Ala386Thr					FOXN4_ENST00000355216.1_Missense_Mutation_p.A206T	p.A386T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			9	1260	-			386					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1156G>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	2.356	-0.347724	0.05208	0.0	1.16E-4	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.94931	-3.56;-3.12	4.49	3.59	0.41128	.	0.359787	0.22995	N	0.053160	D	0.82834	0.5123	N	0.04994	-0.135	0.33902	D	0.638662	B;B	0.17465	0.007;0.022	B;B	0.11329	0.006;0.003	T	0.76523	-0.2928	10	0.18276	T	0.48	-25.1972	3.6705	0.08272	0.1984:0.5951:0.0:0.2065	.	386;386	A6H901;Q96NZ1	.;FOXN4_HUMAN	T	206;386	ENSP00000347354:A206T;ENSP00000299162:A386T	ENSP00000299162:A386T	A	-	1	0	FOXN4	108203733	0.013000	0.17824	0.846000	0.33378	0.414000	0.31173	0.126000	0.15769	1.255000	0.44051	0.555000	0.69702	GCC		0.657	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		3	11	0	0	0	1	0	3	11				
SORT1	6272	broad.mit.edu	37	1	109870142	109870142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109870142C>T	ENST00000256637.6	-	12	1511	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SORT1_ENST00000538502.1_Missense_Mutation_p.V348I	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	485					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTACGGCATTCGGC	0.498																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1453-1455)Gta>Ata		sortilin 1							93.0	81.0	85.0					1																	109870142		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109870142C>T	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1453G>A	1.37:g.109870142C>T	ENSP00000256637:p.Val485Ile					SORT1_ENST00000538502.1_Missense_Mutation_p.V348I	p.V485I	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	12	1511	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	485					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1453G>A	CCDS798.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407019	0.42715	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.42131	0.98;0.98	5.62	3.58	0.41010	VPS10 (1);	0.133569	0.49305	N	0.000151	T	0.13841	0.0335	L	0.38175	1.15	0.53005	D	0.999961	P;D	0.55800	0.692;0.973	B;B	0.38156	0.185;0.266	T	0.03608	-1.1020	10	0.19590	T	0.45	-7.0946	11.0789	0.48049	0.0:0.8375:0.0:0.1625	.	348;485	B4DWI3;Q99523	.;SORT_HUMAN	I	485;348	ENSP00000256637:V485I;ENSP00000438597:V348I	ENSP00000256637:V485I	V	-	1	0	SORT1	109671665	0.956000	0.32656	0.019000	0.16419	0.637000	0.38172	2.225000	0.42954	0.622000	0.30249	0.650000	0.86243	GTA		0.498	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		17	49	0	0	0	1	0	17	49				
GREB1	9687	broad.mit.edu	37	2	11750821	11750821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11750821C>T	ENST00000381486.2	+	18	2974	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	GREB1_ENST00000234142.5_Missense_Mutation_p.R892C|GREB1_ENST00000396123.1_5'Flank	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	892						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGGTTCCCCCGCCTGCACAG	0.627																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2674-2676)Cgc>Tgc		growth regulation by estrogen in breast cancer 1							37.0	39.0	39.0					2																	11750821		2106	4223	6329	SO:0001583	missense	9687					integral to membrane		g.chr2:11750821C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2674C>T	2.37:g.11750821C>T	ENSP00000370896:p.Arg892Cys					GREB1_ENST00000234142.5_Missense_Mutation_p.R892C	p.R892C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	18	2974	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		892					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.2674C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526291	0.85600	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.50277	0.75;0.75;0.75	5.17	4.2	0.49525	.	0.199350	0.39985	N	0.001211	T	0.60534	0.2276	M	0.64404	1.975	0.49798	D	0.999828	D;D	0.89917	0.999;1.0	P;D	0.63703	0.736;0.917	T	0.63695	-0.6579	10	0.87932	D	0	-35.6998	10.5249	0.44943	0.4417:0.5583:0.0:0.0	.	526;892	C9JIG0;Q4ZG55	.;GREB1_HUMAN	C	892;892;526	ENSP00000370896:R892C;ENSP00000234142:R892C;ENSP00000403886:R526C	ENSP00000234142:R892C	R	+	1	0	GREB1	11668272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.413000	0.52686	2.403000	0.81681	0.563000	0.77884	CGC		0.627	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		18	18	0	0	0	1	0	18	18				
KDM5C	8242	broad.mit.edu	37	X	53241017	53241017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53241017G>A	ENST00000375401.3	-	9	1726	c.1194C>T	c.(1192-1194)ggC>ggT	p.G398G	KDM5C_ENST00000404049.3_Silent_p.G397G|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Silent_p.G398G|KDM5C_ENST00000375383.3_Silent_p.G357G|KDM5C_ENST00000452825.3_Silent_p.G331G|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	398					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGGCCATCTCGCCAAAGCTCT	0.522			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(991-993)ggC>ggT		lysine (K)-specific demethylase 5C							80.0	67.0	71.0					X																	53241017		2203	4300	6503	SO:0001819	synonymous_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53241017G>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1194C>T	X.37:g.53241017G>A						KDM5C_ENST00000404049.3_Silent_p.G397G|KDM5C_ENST00000375379.3_Silent_p.G398G|KDM5C_ENST00000375383.3_Silent_p.G357G|KDM5C_ENST00000375401.3_Silent_p.G398G	p.G331G	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			7	1525	-			398					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	c.993C>T	CCDS14351.1																																																																																				0.522	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		11	10	0	0	0	1	0	11	10				
ST14	6768	broad.mit.edu	37	11	130068297	130068297	+	Silent	SNP	C	C	T	rs533140977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130068297C>T	ENST00000278742.5	+	13	1972	c.1554C>T	c.(1552-1554)agC>agT	p.S518S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	518	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAACAGCGACGAGCAGG	0.662																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1552-1554)agC>agT		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						67.0	68.0	68.0					11																	130068297		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130068297C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1554C>T	11.37:g.130068297C>T							p.S518S	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	13	1972	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	518			LDL-receptor class A 2.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1554C>T	CCDS8487.1																																																																																				0.662	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			12	48	0	0	0	1	0	12	48				
STK32B	55351	broad.mit.edu	37	4	5469740	5469740	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5469740A>G	ENST00000282908.5	+	11	1471	c.1049A>G	c.(1048-1050)cAc>cGc	p.H350R	STK32B_ENST00000510398.1_Missense_Mutation_p.H303R|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.H273R	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGAATGGACACCTGCAGCAC	0.517																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1048-1050)cAc>cGc		serine/threonine kinase 32B							169.0	160.0	163.0					4																	5469740		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5469740A>G	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1049A>G	4.37:g.5469740A>G	ENSP00000282908:p.His350Arg					STK32B_ENST00000512636.1_Missense_Mutation_p.H273R|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.H303R	p.H350R	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			11	1471	+			350						Missense_Mutation	SNP	ENST00000282908.5	37	c.1049A>G	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880268	0.51801	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.66460	-0.14;0.18;-0.21	4.75	4.75	0.60458	.	0.000000	0.45361	U	0.000372	T	0.54175	0.1842	L	0.40543	1.245	0.51482	D	0.999921	B	0.29955	0.263	B	0.26202	0.067	T	0.50651	-0.8803	10	0.15952	T	0.53	.	13.1033	0.59233	1.0:0.0:0.0:0.0	.	350	Q9NY57	ST32B_HUMAN	R	350;273;303	ENSP00000282908:H350R;ENSP00000423209:H273R;ENSP00000420984:H303R	ENSP00000282908:H350R	H	+	2	0	STK32B	5520641	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.859000	0.86982	1.779000	0.52309	0.460000	0.39030	CAC		0.517	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		5	98	0	0	0	1	0	5	98				
ENC1	8507	broad.mit.edu	37	5	73931761	73931761	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931761C>A	ENST00000302351.4	-	2	1680	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	ENC1_ENST00000537006.1_Missense_Mutation_p.D184Y|ENC1_ENST00000510316.1_Missense_Mutation_p.D111Y	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	184					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGAGGAAATCTTCATTCTTC	0.498																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(550-552)Gat>Tat		ectodermal-neural cortex 1 (with BTB domain)							107.0	102.0	104.0					5																	73931761		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931761C>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.550G>T	5.37:g.73931761C>A	ENSP00000306356:p.Asp184Tyr					ENC1_ENST00000537006.1_Missense_Mutation_p.D184Y|ENC1_ENST00000510316.1_Missense_Mutation_p.D111Y	p.D184Y	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1680	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	184					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.550G>T	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935969	0.73442	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.71934	-0.61;-0.61;-0.61	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.093246	0.64402	D	0.000001	D	0.88119	0.6351	M	0.91300	3.195	0.80722	D	1	P	0.51147	0.942	D	0.66351	0.943	D	0.89177	0.3541	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	184	O14682	ENC1_HUMAN	Y	184;111;184	ENSP00000306356:D184Y;ENSP00000423804:D111Y;ENSP00000446289:D184Y	ENSP00000306356:D184Y	D	-	1	0	ENC1	73967517	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAT		0.498	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		55	85	1	0	6.09941e-20	1	7.99339e-20	55	85				
BECN1	8678	broad.mit.edu	37	17	40970838	40970838	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40970838G>A	ENST00000361523.4	-	5	450	c.318C>T	c.(316-318)ggC>ggT	p.G106G	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.G106G	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	106					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCATGGTGCCGCCATCAGATG	0.597																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(316-318)ggC>ggT		beclin 1, autophagy related							92.0	80.0	84.0					17																	40970838		2203	4300	6503	SO:0001819	synonymous_variant	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40970838G>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.318C>T	17.37:g.40970838G>A						BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.G106G	p.G106G	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	5	450	-		Breast(137;0.00104)	106					B2R6N7|O75595|Q9UNA8	Silent	SNP	ENST00000361523.4	37	c.318C>T	CCDS11441.1																																																																																				0.597	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		18	33	0	0	0	1	0	18	33				
ZNF48	197407	broad.mit.edu	37	16	30409537	30409537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409537G>A	ENST00000320159.2	+	2	1342	c.966G>A	c.(964-966)ctG>ctA	p.L322L	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TGAAGCACCTGCGGGTGCACA	0.632																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(964-966)ctG>ctA		zinc finger protein 48							80.0	86.0	84.0					16																	30409537		2197	4300	6497	SO:0001819	synonymous_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409537G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.966G>A	16.37:g.30409537G>A							p.L322L	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1342	+			322					Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	ENST00000320159.2	37	c.966G>A	CCDS10679.1																																																																																				0.632	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		4	47	0	0	0	1	0	4	47				
KRT27	342574	broad.mit.edu	37	17	38938542	38938542	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38938542G>T	ENST00000301656.3	-	1	244	c.204C>A	c.(202-204)tcC>tcA	p.S68S		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGGCAGCACAGGAAGCACTTC	0.592																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(202-204)tcC>tcA		keratin 27							113.0	97.0	103.0					17																	38938542		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938542G>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.204C>A	17.37:g.38938542G>T							p.S68S	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			1	244	-		Breast(137;0.000812)	68			Gly-rich.|Head.			Silent	SNP	ENST00000301656.3	37	c.204C>A	CCDS11375.1																																																																																				0.592	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		6	49	1	0	0.00198382	1	0.00210581	6	49				
ABHD4	63874	broad.mit.edu	37	14	23079789	23079789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23079789G>A	ENST00000428304.2	+	7	1034	c.964G>A	c.(964-966)Gtc>Atc	p.V322I		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	322					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTCCCACCATGTCTATGCTGA	0.527																																						ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(964-966)Gtc>Atc		abhydrolase domain containing 4							113.0	98.0	103.0					14																	23079789		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23079789G>A	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.964G>A	14.37:g.23079789G>A	ENSP00000414558:p.Val322Ile						p.V322I	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	7	1034	+	all_cancers(95;5.49e-05)		322					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.964G>A	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556999	0.86231	.	.	ENSG00000100439	ENST00000428304	T	0.68025	-0.3	5.94	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.42008	1.315	0.58432	D	0.999999	P	0.50710	0.938	P	0.57548	0.823	T	0.61662	-0.7017	10	0.18276	T	0.48	-30.5874	13.4113	0.60944	0.0779:0.0:0.9221:0.0	.	322	Q8TB40	ABHD4_HUMAN	I	322	ENSP00000414558:V322I	ENSP00000414558:V322I	V	+	1	0	ABHD4	22149629	1.000000	0.71417	0.981000	0.43875	0.925000	0.55904	8.865000	0.92300	2.817000	0.96982	0.643000	0.83706	GTC		0.527	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			14	37	0	0	0	1	0	14	37				
GRID2	2895	broad.mit.edu	37	4	94693538	94693538	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693538T>C	ENST00000282020.4	+	16	3171	c.2913T>C	c.(2911-2913)aaT>aaC	p.N971N	GRID2_ENST00000510992.1_Silent_p.N876N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	971	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGGCACCTAATGGGGGCTTTT	0.498																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2911-2913)aaT>aaC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						58.0	60.0	59.0					4																	94693538		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693538T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2913T>C	4.37:g.94693538T>C						GRID2_ENST00000510992.1_Silent_p.N876N	p.N971N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3171	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	971			Interaction with AP4M1 (By similarity).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2913T>C	CCDS3637.1																																																																																				0.498	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	43	0	0	0	1	0	5	43				
PREP	5550	broad.mit.edu	37	6	105771585	105771585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105771585C>A	ENST00000369110.3	-	10	1464	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	424					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTACGGTCACCTCTCGGAAAA	0.418																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1270-1272)gaG>gaT		prolyl endopeptidase	Oxytocin(DB00107)						175.0	160.0	165.0					6																	105771585		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105771585C>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1272G>T	6.37:g.105771585C>A	ENSP00000358106:p.Glu424Asp						p.E424D	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			10	1464	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	424					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.1272G>T	CCDS5053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.700758|2.700758	0.48307|0.48307	.|.	.|.	ENSG00000085377|ENSG00000085377	ENST00000369110;ENST00000535457|ENST00000448705	T|.	0.34859|.	1.34|.	5.69|5.69	3.92|3.92	0.45320|0.45320	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51958|0.51958	0.1705|0.1705	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.53337|0.53337	-0.8453|-0.8453	10|5	0.36615|.	T|.	0.2|.	-34.2816|-34.2816	9.088|9.088	0.36592|0.36592	0.0:0.7165:0.0:0.2835|0.0:0.7165:0.0:0.2835	.|.	424|.	P48147|.	PPCE_HUMAN|.	D|M	424;19|20	ENSP00000358106:E424D|.	ENSP00000358106:E424D|.	E|R	-|-	3|2	2|0	PREP|PREP	105878278|105878278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	1.521000|1.521000	0.35910|0.35910	0.759000|0.759000	0.33084|0.33084	-0.140000|-0.140000	0.14226|0.14226	GAG|AGG		0.418	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			7	122	1	0	0.248553	1	0.25002	7	122				
HSPA12A	259217	broad.mit.edu	37	10	118464710	118464710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118464710C>T	ENST00000369209.3	-	3	310	c.206G>A	c.(205-207)gGc>gAc	p.G69D		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	69						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTAGGCATAGCCACTGGATGT	0.567																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(205-207)gGc>gAc		heat shock 70kDa protein 12A							131.0	144.0	139.0					10																	118464710		2154	4260	6414	SO:0001583	missense	259217						ATP binding	g.chr10:118464710C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.206G>A	10.37:g.118464710C>T	ENSP00000358211:p.Gly69Asp						p.G69D	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	3	310	-			69						Missense_Mutation	SNP	ENST00000369209.3	37	c.206G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515733	0.96402	.	.	ENSG00000165868	ENST00000369209	T	0.03982	3.74	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01781	-1.1275	10	0.87932	D	0	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	69	O43301	HS12A_HUMAN	D	69	ENSP00000358211:G69D	ENSP00000358211:G69D	G	-	2	0	HSPA12A	118454700	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.773000	0.85462	2.808000	0.96608	0.655000	0.94253	GGC		0.567	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		27	35	0	0	0	1	0	27	35				
FLNA	2316	broad.mit.edu	37	X	153582630	153582630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582630C>T	ENST00000369850.3	-	34	5682	c.5446G>A	c.(5446-5448)Gcg>Acg	p.A1816T	FLNA_ENST00000369856.3_Missense_Mutation_p.A7T|FLNA_ENST00000422373.1_Missense_Mutation_p.A1808T|FLNA_ENST00000344736.4_Missense_Mutation_p.A1776T|FLNA_ENST00000360319.4_Missense_Mutation_p.A1808T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1816					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGGCTGCGCCACCTTGCCT	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(5422-5424)Gcg>Acg		filamin A, alpha							45.0	47.0	46.0					X																	153582630		2173	4229	6402	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153582630C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5446G>A	X.37:g.153582630C>T	ENSP00000358866:p.Ala1816Thr					FLNA_ENST00000344736.4_Missense_Mutation_p.A1776T|FLNA_ENST00000360319.4_Missense_Mutation_p.A1808T|FLNA_ENST00000369850.3_Missense_Mutation_p.A1816T|FLNA_ENST00000369856.3_Missense_Mutation_p.A7T	p.A1808T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			33	5670	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1816					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.5422G>A	CCDS48194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.95|16.95	3.264072|3.264072	0.59431|0.59431	.|.	.|.	ENSG00000196924|ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736|ENST00000438732	D;D;D;T;D|.	0.84442|.	-1.85;-1.85;-1.85;0.94;-1.85|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70107|.	0.3186|.	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	P;B;P|.	0.41848|.	0.763;0.027;0.735|.	P;B;P|.	0.50934|.	0.61;0.073;0.654|.	T|.	0.67417|.	-0.5676|.	10|.	0.28530|.	T|.	0.3|.	.|.	18.3027|18.3027	0.90169|0.90169	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	7;1808;1816|.	E9PHF0;P21333-2;P21333|.	.;.;FLNA_HUMAN|.	T|X	1808;1789;1808;1816;7;1776|98	ENSP00000353467:A1808T;ENSP00000416926:A1808T;ENSP00000358866:A1816T;ENSP00000358872:A7T;ENSP00000358863:A1776T|.	ENSP00000358863:A1776T|.	A|W	-|-	1|3	0|0	FLNA|FLNA	153235824|153235824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.584000|0.584000	0.36387|0.36387	7.779000|7.779000	0.85648|0.85648	2.261000|2.261000	0.74972|0.74972	0.529000|0.529000	0.55759|0.55759	GCG|TGG		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			18	25	0	0	0	1	0	18	25				
MT1B	4490	broad.mit.edu	37	16	56686499	56686499	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56686499C>T	ENST00000334346.2	+	2	100	c.45C>T	c.(43-45)tgC>tgT	p.C15C	RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Silent_p.C15C	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	15	Beta.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGTGCCTGCGCCGGCTCCT	0.552																																						ENST00000334346.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(43-45)tgC>tgT		metallothionein 1B							118.0	105.0	109.0					16																	56686499		2198	4300	6498	SO:0001819	synonymous_variant	4490					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56686499C>T	AY168638	CCDS10765.1	16q13	2008-02-05	2007-03-02		ENSG00000169688	ENSG00000169688		"""Metallothioneins"""	7394	protein-coding gene	gene with protein product		156349	"""metallothionein 1Q"""	MT1, MT1Q		6089206, 3785191	Standard	NM_005947		Approved		uc002ejs.3	P07438	OTTHUMG00000133277	ENST00000334346.2:c.45C>T	16.37:g.56686499C>T						MT1B_ENST00000562399.1_Silent_p.C15C|RP11-249C24.11_ENST00000568608.1_RNA	p.C15C	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN			2	100	+			15			Beta.		Q86YX0	Silent	SNP	ENST00000334346.2	37	c.45C>T	CCDS10765.1																																																																																				0.552	MT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257057.2	NM_005947		32	53	0	0	0	1	0	32	53				
DYNC1H1	1778	broad.mit.edu	37	14	102498707	102498707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102498707C>A	ENST00000360184.4	+	52	10146	c.9982C>A	c.(9982-9984)Ctg>Atg	p.L3328M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3328	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCCTGCTGCTGGGGGAAAG	0.577																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(9982-9984)Ctg>Atg		dynein, cytoplasmic 1, heavy chain 1							144.0	121.0	129.0					14																	102498707		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102498707C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9982C>A	14.37:g.102498707C>A	ENSP00000348965:p.Leu3328Met						p.L3328M	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			52	10146	+			3328			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9982C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517320	0.64634	.	.	ENSG00000197102	ENST00000360184	T	0.75821	-0.97	5.6	3.49	0.39957	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	M	0.73962	2.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.81099	-0.1086	10	0.42905	T	0.14	.	8.8436	0.35157	0.0:0.6893:0.0:0.3107	.	3328	Q14204	DYHC1_HUMAN	M	3328	ENSP00000348965:L3328M	ENSP00000348965:L3328M	L	+	1	2	DYNC1H1	101568460	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.311000	0.33562	1.306000	0.44926	0.467000	0.42956	CTG		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		48	51	1	0	1.23713e-20	1	1.62518e-20	48	51				
EPHB2	2048	broad.mit.edu	37	1	23111440	23111440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111440G>A	ENST00000400191.3	+	3	700	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	EPHB2_ENST00000374630.3_Missense_Mutation_p.A228T|EPHB2_ENST00000544305.1_Missense_Mutation_p.A228T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A222T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A228T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	228	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCTGCATCGCCAATGCGGA	0.632																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(682-684)Gcc>Acc		EPH receptor B2							53.0	57.0	55.0					1																	23111440		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111440G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.682G>A	1.37:g.23111440G>A	ENSP00000383053:p.Ala228Thr					EPHB2_ENST00000374627.1_Missense_Mutation_p.A222T|EPHB2_ENST00000544305.1_Missense_Mutation_p.A228T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A228T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A228T	p.A228T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	700	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	228			Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.682G>A		.	.	.	.	.	.	.	.	.	.	G	10.96	1.498333	0.26861	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.74002	5.36;-0.8;-0.8;-0.79;-0.79	5.12	0.776	0.18532	.	0.300274	0.32386	N	0.006163	T	0.62672	0.2447	M	0.69358	2.11	0.24012	N	0.996173	B;B;B;B	0.29627	0.252;0.07;0.014;0.01	B;B;B;B	0.18263	0.021;0.012;0.007;0.016	T	0.47509	-0.9112	10	0.23891	T	0.37	.	6.1192	0.20144	0.081:0.5136:0.2801:0.1253	.	228;228;246;228	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	228;228;228;228;228;222	ENSP00000444174:A228T;ENSP00000363761:A228T;ENSP00000383053:A228T;ENSP00000363763:A228T;ENSP00000363758:A222T	ENSP00000363755:A228T	A	+	1	0	EPHB2	22984027	0.268000	0.24133	0.996000	0.52242	0.986000	0.74619	0.821000	0.27338	0.298000	0.22638	0.460000	0.39030	GCC		0.632	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		25	42	0	0	0	1	0	25	42				
IL18BP	10068	broad.mit.edu	37	11	71715338	71715338	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71715338C>T	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Missense_Mutation_p.R883Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.R2005Q|NUMA1_ENST00000393695.3_Missense_Mutation_p.R2019Q	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCCTTCATGTCGGTCTCGGGG	0.557																																						ENST00000393695.3										T					RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(6055-6057)cGa>cAa		nuclear mitotic apparatus protein 1							143.0	131.0	135.0					11																	71715338		2200	4293	6493	SO:0001628	intergenic_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71715338C>T	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715338C>T						NUMA1_ENST00000351960.6_Missense_Mutation_p.R883Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.R2005Q	p.R2019Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			25	6387	-			2019					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	c.6056G>A	CCDS8206.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699858|4.699858	0.88924|0.88924	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.25085	.|1.82;2.41;2.41	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.44285	.|D	.|0.000464	T|T	0.39253|0.39253	0.1071|0.1071	L|L	0.27053|0.27053	0.805|0.805	0.36995|0.36995	D|D	0.894983|0.894983	.|D;D;D;P	.|0.89917	.|0.99;1.0;0.99;0.839	.|P;D;P;B	.|0.83275	.|0.644;0.996;0.644;0.209	T|T	0.48115|0.48115	-0.9063|-0.9063	5|10	.|0.72032	.|D	.|0.01	.|.	16.1793|16.1793	0.81889|0.81889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2025;2005;2019;883	.|Q4LE64;Q14980-2;Q14980;Q9BTE9	.|.;.;NUMA1_HUMAN;.	N|Q	868|883;2005;2019;1568;992	.|ENSP00000260051:R883Q;ENSP00000351851:R2005Q;ENSP00000377298:R2019Q	.|ENSP00000260051:R883Q	D|R	-|-	1|2	0|0	NUMA1|NUMA1	71392986|71392986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	2.227000|2.227000	0.42972|0.42972	2.353000|2.353000	0.79882|0.79882	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.557	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		30	51	0	0	0	1	0	30	51				
AKAP6	9472	broad.mit.edu	37	14	33292223	33292223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292223G>A	ENST00000280979.4	+	13	5374	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1735					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCAATGTCAGCATGATTGTT	0.473																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5203-5205)aGc>aAc		A kinase (PRKA) anchor protein 6							187.0	155.0	166.0					14																	33292223		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292223G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5204G>A	14.37:g.33292223G>A	ENSP00000280979:p.Ser1735Asn					AKAP6_ENST00000557272.1_Intron	p.S1735N	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5374	+	Breast(36;0.0388)|Prostate(35;0.15)		1735					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5204G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899886	0.72754	.	.	ENSG00000151320	ENST00000280979	T	0.14266	2.52	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.10222	-1.0639	10	0.87932	D	0	-10.7035	19.6071	0.95585	0.0:0.0:1.0:0.0	.	1735	Q13023	AKAP6_HUMAN	N	1735	ENSP00000280979:S1735N	ENSP00000280979:S1735N	S	+	2	0	AKAP6	32361974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.044000	0.93805	2.728000	0.93425	0.650000	0.86243	AGC		0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		19	72	0	0	0	1	0	19	72				
ADH5	128	broad.mit.edu	37	4	99996153	99996153	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99996153C>A	ENST00000296412.8	-	7	923	c.873G>T	c.(871-873)gtG>gtT	p.V291V	ADH5_ENST00000512991.1_5'Flank	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		CTACTCCAACCACGACGCTGA	0.522																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(871-873)gtG>gtT		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						181.0	182.0	182.0					4																	99996153		2058	4210	6268	SO:0001819	synonymous_variant	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:99996153C>A	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.873G>T	4.37:g.99996153C>A							p.V291V	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	7	923	-			291						Silent	SNP	ENST00000296412.8	37	c.873G>T	CCDS47111.1																																																																																				0.522	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		5	180	1	0	0.0215528	1	0.0221649	5	180				
C1S	716	broad.mit.edu	37	12	7177630	7177630	+	Missense_Mutation	SNP	G	G	A	rs150394565		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177630G>A	ENST00000406697.1	+	15	2370	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	C1S_ENST00000328916.3_Missense_Mutation_p.R581H|C1S_ENST00000360817.5_Missense_Mutation_p.R581H|C1S_ENST00000402681.3_Missense_Mutation_p.R414H			P09871	C1S_HUMAN	complement component 1, s subcomponent	581	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGTGCTGTTCGCCTCAAGGCG	0.522																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1741-1743)cGc>cAc		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	67.0	65.0	66.0		1742,1742	-6.2	0.0	12	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C1S	NM_001734.3,NM_201442.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	581/689,581/689	7177630	1,13005	2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177630G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1742G>A	12.37:g.7177630G>A	ENSP00000385035:p.Arg581His					C1S_ENST00000402681.3_Missense_Mutation_p.R414H|C1S_ENST00000328916.3_Missense_Mutation_p.R581H|C1S_ENST00000360817.5_Missense_Mutation_p.R581H	p.R581H			P09871	C1S_HUMAN			15	2370	+			581			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1742G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	9.445	1.089147	0.20390	0.0	1.16E-4	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.01	-6.23	0.02052	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.234870	0.01203	N	0.007632	T	0.70202	0.3197	N	0.04373	-0.215	0.09310	N	1	B	0.24043	0.096	B	0.13407	0.009	T	0.64939	-0.6289	10	0.16896	T	0.51	.	4.0271	0.09692	0.4173:0.0:0.2613:0.3214	.	581	P09871	C1S_HUMAN	H	581;581;581;575;414	ENSP00000385035:R581H;ENSP00000328173:R581H;ENSP00000354057:R581H;ENSP00000384171:R414H	ENSP00000328173:R581H	R	+	2	0	C1S	7047891	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.123000	0.03263	-0.874000	0.04027	-0.367000	0.07326	CGC		0.522	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		19	24	0	0	0	1	0	19	24				
MOGAT1	116255	broad.mit.edu	37	2	223554130	223554130	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554130T>C	ENST00000446656.3	+	3	420	c.420T>C	c.(418-420)ctT>ctC	p.L140L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	140					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTTCATATCTTCACGTGCTGC	0.443																																					Ovarian(93;205 1446 2385 11581 25911)	ENST00000446656.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9						c.(418-420)ctT>ctC		monoacylglycerol O-acyltransferase 1							193.0	177.0	182.0					2																	223554130		1948	4136	6084	SO:0001819	synonymous_variant	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223554130T>C	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.420T>C	2.37:g.223554130T>C							p.L140L	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	3	420	+		Renal(207;0.0183)	140					Q6IEE5	Silent	SNP	ENST00000446656.3	37	c.420T>C	CCDS46524.1																																																																																				0.443	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		48	53	0	0	0	1	0	48	53				
PSMD1	5707	broad.mit.edu	37	2	231941835	231941835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231941835C>T	ENST00000308696.6	+	9	1192	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	PSMD1_ENST00000373635.4_Nonsense_Mutation_p.R344*|PSMD1_ENST00000409643.1_Nonsense_Mutation_p.R344*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	344					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GTTCTTAATACGAAACAATAA	0.299																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1030-1032)Cga>Tga		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						48.0	52.0	51.0					2																	231941835		2203	4295	6498	SO:0001587	stop_gained	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231941835C>T	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1030C>T	2.37:g.231941835C>T	ENSP00000309474:p.Arg344*					PSMD1_ENST00000373635.4_Nonsense_Mutation_p.R344*|PSMD1_ENST00000409643.1_Nonsense_Mutation_p.R344*	p.R344*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	9	1192	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	344					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Nonsense_Mutation	SNP	ENST00000308696.6	37	c.1030C>T	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	38	7.122444	0.98077	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	4.96	4.07	0.47477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.184	14.8988	0.70664	0.1448:0.8552:0.0:0.0	.	.	.	.	X	344	.	ENSP00000309474:R344X	R	+	1	2	PSMD1	231650079	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.689000	0.68234	1.183000	0.42943	-0.181000	0.13052	CGA		0.299	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			5	40	0	0	0	1	0	5	40				
STAU2	27067	broad.mit.edu	37	8	74529527	74529527	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74529527C>A	ENST00000524300.1	-	7	920	c.570G>T	c.(568-570)caG>caT	p.Q190H	STAU2_ENST00000521727.1_Splice_Site_p.Q170H|STAU2_ENST00000522509.1_Splice_Site_p.Q158H|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000523558.1_Splice_Site_p.Q18H|STAU2_ENST00000355780.5_Splice_Site_p.Q158H|STAU2_ENST00000519961.1_Splice_Site_p.Q190H|STAU2_ENST00000521210.1_Splice_Site_p.Q86H|STAU2_ENST00000522695.1_Splice_Site_p.Q158H|STAU2_ENST00000517542.1_Splice_Site_p.Q152H	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	190					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGCACCACACCTGAGGAGATC	0.413																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.e6+1		staufen double-stranded RNA binding protein 2							142.0	128.0	133.0					8																	74529527		2203	4300	6503	SO:0001630	splice_region_variant	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74529527C>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.570+1G>T	8.37:g.74529527C>A						STAU2_ENST00000523558.1_Splice_Site_p.Q18_splice|STAU2_ENST00000522509.1_Splice_Site_p.Q158_splice|STAU2_ENST00000524300.1_Splice_Site_p.Q190_splice|STAU2_ENST00000521727.1_Splice_Site_p.Q170_splice|STAU2_ENST00000521210.1_Splice_Site_p.Q86_splice|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000517542.1_Splice_Site_p.Q152_splice|STAU2_ENST00000519961.1_Splice_Site_p.Q190_splice|STAU2_ENST00000522695.1_Splice_Site_p.Q158_splice	p.Q158_splice	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		6	692	-	Breast(64;0.0138)		190			DRBM 2.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Splice_Site	SNP	ENST00000524300.1	37	c.474_splice	CCDS55247.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812060	0.50527	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.01;-0.01;1.46;-0.05;-0.01;-0.01;-0.01;-0.01;-0.01;1.45;-0.01	5.1	5.1	0.69264	.	0.054804	0.64402	D	0.000001	T	0.72510	0.3469	M	0.73962	2.25	0.80722	D	1	P;P;P;D;P;P;P	0.53151	0.93;0.902;0.93;0.958;0.697;0.93;0.847	P;P;P;P;B;P;P	0.51135	0.459;0.646;0.459;0.66;0.276;0.459;0.497	T	0.74250	-0.3726	9	.	.	.	-33.7857	18.8698	0.92308	0.0:1.0:0.0:0.0	.	170;86;18;158;190;158;190	E7EPX0;E9PEI3;E7ER74;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	H	158;190;18;86;158;190;170;158;152;18;158	ENSP00000428456:Q158H;ENSP00000428756:Q190H;ENSP00000428741:Q18H;ENSP00000429173:Q86H;ENSP00000348026:Q158H;ENSP00000430907:Q190H;ENSP00000429973:Q170H;ENSP00000427977:Q158H;ENSP00000431111:Q152H;ENSP00000429005:Q18H;ENSP00000428829:Q158H	.	Q	-	3	2	STAU2	74692081	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.243000	0.78219	2.520000	0.84964	0.555000	0.69702	CAG		0.413	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379000.2	NM_001164380	Missense_Mutation	10	30	1	0	7.03913e-09	1	8.47891e-09	10	30				
MEPE	56955	broad.mit.edu	37	4	88766237	88766237	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88766237T>C	ENST00000424957.3	+	4	290	c.217T>C	c.(217-219)Tcc>Ccc	p.S73P	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S104P|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.S49P|MEPE_ENST00000361056.3_Missense_Mutation_p.S73P|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000511670.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	73					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAAGATTTGTCCCTTTCTGA	0.308																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(145-147)Tcc>Ccc		matrix extracellular phosphoglycoprotein							51.0	56.0	54.0					4																	88766237		2203	4299	6502	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766237T>C	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.217T>C	4.37:g.88766237T>C	ENSP00000416984:p.Ser73Pro					MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.S73P|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S104P|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.S73P	p.S49P			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	523	+		Hepatocellular(203;0.114)	73					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.145T>C	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.257242	0.39896	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000361056	T;T;T;T	0.55234	4.28;0.54;0.53;4.28	4.69	0.822	0.18806	.	0.542872	0.15615	N	0.253168	T	0.46014	0.1371	M	0.70595	2.14	0.09310	N	0.999996	B	0.27932	0.194	B	0.26770	0.073	T	0.40040	-0.9584	10	0.46703	T	0.11	-0.4106	5.3607	0.16085	0.0:0.0978:0.3945:0.5077	.	73	Q9NQ76	MEPE_HUMAN	P	73;73;104;49;73	ENSP00000416984:S73P;ENSP00000378534:S104P;ENSP00000422747:S49P;ENSP00000354341:S73P	ENSP00000354341:S73P	S	+	1	0	MEPE	88985261	0.145000	0.22656	0.002000	0.10522	0.530000	0.34684	1.568000	0.36418	0.063000	0.16370	0.533000	0.62120	TCC		0.308	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			31	45	0	0	0	1	0	31	45				
MDC1	9656	broad.mit.edu	37	6	30680666	30680666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680666C>A	ENST00000376406.3	-	5	1700	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.K351N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	351	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CATGGAAGATCTTCCTCTTCT	0.542								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1051-1053)aaG>aaT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							100.0	113.0	109.0					6																	30680666		1511	2708	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680666C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1053G>T	6.37:g.30680666C>A	ENSP00000365588:p.Lys351Asn					MDC1_ENST00000376405.2_Missense_Mutation_p.K351N|MDC1-AS1_ENST00000442150.1_RNA	p.K351N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1700	-			351			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1053G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377175	0.24944	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02890	4.19;4.12	4.63	-8.42	0.00957	.	0.864689	0.09425	N	0.803838	T	0.00496	0.0016	N	0.22421	0.69	0.09310	N	1	B;B;P;B	0.35328	0.119;0.119;0.495;0.119	B;B;B;B	0.24155	0.051;0.051;0.045;0.037	T	0.44112	-0.9349	10	0.49607	T	0.09	-0.1185	5.6048	0.17373	0.1197:0.5278:0.1219:0.2306	.	351;223;351;351	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	N	351;351;351;223	ENSP00000365588:K351N;ENSP00000365587:K351N	ENSP00000365587:K351N	K	-	3	2	MDC1	30788645	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-4.986000	0.00163	-1.807000	0.01236	-0.367000	0.07326	AAG		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		30	49	1	0	2.47511e-08	1	2.96196e-08	30	49				
FAM217B	63939	broad.mit.edu	37	20	58520077	58520077	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58520077G>A	ENST00000358293.3	+	5	1494	c.1079G>A	c.(1078-1080)gGt>gAt	p.G360D	FAM217B_ENST00000360816.3_Missense_Mutation_p.G360D	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	360																	GAGAGCTGTGGTCATGCCACT	0.408																																						ENST00000358293.3																			0											c.(1078-1080)gGt>gAt		family with sequence similarity 217, member B							60.0	61.0	61.0					20																	58520077		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58520077G>A	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1079G>A	20.37:g.58520077G>A	ENSP00000351040:p.Gly360Asp					FAM217B_ENST00000360816.3_Missense_Mutation_p.G360D	p.G360D	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1494	+			360					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.1079G>A	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765955	0.69878	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.33438	1.41;1.41	5.35	0.894	0.19242	.	0.558695	0.15983	N	0.235191	T	0.29158	0.0725	L	0.29908	0.895	0.09310	N	1	P	0.48016	0.904	P	0.50708	0.648	T	0.12734	-1.0536	10	0.62326	D	0.03	-3.8512	8.773	0.34745	0.0:0.3401:0.2806:0.3794	.	360	Q9NTX9	CT177_HUMAN	D	360	ENSP00000351040:G360D;ENSP00000354056:G360D	ENSP00000351040:G360D	G	+	2	0	C20orf177	57953472	0.000000	0.05858	0.002000	0.10522	0.575000	0.36095	-0.056000	0.11787	-0.057000	0.13199	0.591000	0.81541	GGT		0.408	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		4	40	0	0	0	1	0	4	40				
MAP3K8	1326	broad.mit.edu	37	10	30739353	30739353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30739353C>T	ENST00000263056.1	+	5	1367	c.671C>T	c.(670-672)cCa>cTa	p.P224L	MAP3K8_ENST00000542547.1_Missense_Mutation_p.P224L|MAP3K8_ENST00000375321.1_Missense_Mutation_p.P224L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGCTGTGGACCAATGAGAGAA	0.448																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(670-672)cCa>cTa		mitogen-activated protein kinase kinase kinase 8							105.0	100.0	102.0					10																	30739353		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30739353C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.671C>T	10.37:g.30739353C>T	ENSP00000263056:p.Pro224Leu					MAP3K8_ENST00000542547.1_Missense_Mutation_p.P224L|MAP3K8_ENST00000375321.1_Missense_Mutation_p.P224L	p.P224L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			5	1367	+		Prostate(175;0.151)	224			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.671C>T	CCDS7166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.941172|4.941172	0.92526|0.92526	.|.	.|.	ENSG00000107968|ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000375321|ENST00000430603	T;T;T;T|.	0.50548|.	1.05;1.05;0.74;1.05|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74207|.	0.3686|.	M|M	0.64676|0.64676	1.99|1.99	0.80722|0.80722	D|D	1|1	P|.	0.51537|.	0.946|.	P|.	0.55391|.	0.775|.	T|.	0.71889|.	-0.4456|.	10|.	0.51188|.	T|.	0.08|.	.|.	19.3825|19.3825	0.94543|0.94543	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224|.	P41279|.	M3K8_HUMAN|.	L|X	224|145	ENSP00000263056:P224L;ENSP00000443610:P224L;ENSP00000409653:P224L;ENSP00000364470:P224L|.	ENSP00000263056:P224L|.	P|Q	+|+	2|1	0|0	MAP3K8|MAP3K8	30779359|30779359	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.990000|0.990000	0.78478|0.78478	5.559000|5.559000	0.67326|0.67326	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.448	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		32	43	0	0	0	1	0	32	43				
HERC1	8925	broad.mit.edu	37	15	63928207	63928207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63928207G>A	ENST00000443617.2	-	65	12454	c.12367C>T	c.(12367-12369)Cgg>Tgg	p.R4123W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4123					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGGGCCGCCGCTGCCTGTCG	0.502																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(12367-12369)Cgg>Tgg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							240.0	243.0	242.0					15																	63928207		2038	4199	6237	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63928207G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12367C>T	15.37:g.63928207G>A	ENSP00000390158:p.Arg4123Trp						p.R4123W	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			65	12454	-			4123					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.12367C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718736	0.89205	.	.	ENSG00000103657	ENST00000443617	T	0.80393	-1.37	5.44	5.44	0.79542	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000001	D	0.83308	0.5226	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84254	0.0479	10	0.56958	D	0.05	.	14.4636	0.67467	0.0:0.0:0.8529:0.1471	.	4123	Q15751	HERC1_HUMAN	W	4123	ENSP00000390158:R4123W	ENSP00000390158:R4123W	R	-	1	2	HERC1	61715260	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.456000	0.73501	2.711000	0.92665	0.561000	0.74099	CGG		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		102	175	0	0	0	1	0	102	175				
ECD	11319	broad.mit.edu	37	10	74912051	74912051	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74912051C>A	ENST00000372979.4	-	7	1118	c.912G>T	c.(910-912)ttG>ttT	p.L304F	ECD_ENST00000454759.2_Intron|ECD_ENST00000430082.2_Splice_Site_p.L304F	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	304					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCAACATTACCAATTTCATGC	0.428																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e7+1		ecdysoneless homolog (Drosophila)							86.0	87.0	87.0					10																	74912051		2203	4300	6503	SO:0001630	splice_region_variant	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74912051C>A	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.912+1G>T	10.37:g.74912051C>A						ECD_ENST00000430082.1_Splice_Site_p.L304_splice|ECD_ENST00000454759.1_Intron	p.L304_splice	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			7	1118	-	Prostate(51;0.0119)		304					C9JX46|E9PAW8	Splice_Site	SNP	ENST00000372979.4	37	c.912_splice	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280001	0.80692	.	.	ENSG00000122882	ENST00000372979;ENST00000430082	T;T	0.34472	1.36;1.36	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75204	-0.3400	9	.	.	.	1.053	17.7638	0.88471	0.0:1.0:0.0:0.0	.	304;304	C9JX46;O95905	.;SGT1_HUMAN	F	304	ENSP00000362070:L304F;ENSP00000401566:L304F	.	L	-	3	2	ECD	74582057	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	5.952000	0.70282	2.790000	0.95986	0.650000	0.86243	TTG		0.428	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	Missense_Mutation	6	60	1	0	0.000157383	1	0.00017284	6	60				
KIF2B	84643	broad.mit.edu	37	17	51902154	51902154	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:51902154T>C	ENST00000268919.4	+	1	1916	c.1760T>C	c.(1759-1761)gTa>gCa	p.V587A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	587					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATACCTTATGTACAGAGTGAG	0.418																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1759-1761)gTa>gCa		kinesin family member 2B							103.0	105.0	104.0					17																	51902154		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902154T>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1760T>C	17.37:g.51902154T>C	ENSP00000268919:p.Val587Ala						p.V587A	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1916	+			587					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1760T>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.441025	0.01098	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73047	-0.71	5.51	0.807	0.18714	.	1.304430	0.05678	N	0.589903	T	0.50905	0.1643	N	0.14661	0.345	0.09310	N	1	B	0.19073	0.033	B	0.23275	0.045	T	0.30060	-0.9991	10	0.06625	T	0.88	.	9.1263	0.36816	0.0:0.3541:0.0:0.6459	.	587	Q8N4N8	KIF2B_HUMAN	A	587;475	ENSP00000268919:V587A	ENSP00000268919:V587A	V	+	2	0	KIF2B	49257153	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.126000	0.10563	-0.085000	0.12573	0.533000	0.62120	GTA		0.418	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		36	56	0	0	0	1	0	36	56				
ZNF775	285971	broad.mit.edu	37	7	150094418	150094418	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150094418C>T	ENST00000329630.5	+	3	956	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCTGCAACGAGTGTG	0.741																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(847-849)tgC>tgT		zinc finger protein 775							15.0	18.0	17.0					7																	150094418		2139	4242	6381	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094418C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.849C>T	7.37:g.150094418C>T							p.C283C	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	956	+	Ovarian(565;0.183)|Melanoma(164;0.226)		283					Q8IY24	Silent	SNP	ENST00000329630.5	37	c.849C>T	CCDS43678.1																																																																																				0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		4	25	0	0	0	1	0	4	25				
ZBTB46	140685	broad.mit.edu	37	20	62421634	62421634	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62421634C>T	ENST00000245663.4	-	2	627	c.477G>A	c.(475-477)tcG>tcA	p.S159S	ZBTB46_ENST00000302995.2_Silent_p.S159S|ZBTB46_ENST00000395104.1_Silent_p.S159S|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	159					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCATCACGGCCGAGATGAGAG	0.642																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(475-477)tcG>tcA		zinc finger and BTB domain containing 46							28.0	26.0	27.0					20																	62421634		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421634C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.477G>A	20.37:g.62421634C>T						ZBTB46_ENST00000395104.1_Silent_p.S159S|ZBTB46_ENST00000302995.2_Silent_p.S159S	p.S159S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	627	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		159					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.477G>A	CCDS13538.1																																																																																				0.642	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		3	5	0	0	0	1	0	3	5				
MYOM2	9172	broad.mit.edu	37	8	2046693	2046693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2046693G>A	ENST00000262113.4	+	19	2461	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	MYOM2_ENST00000523438.1_Missense_Mutation_p.G199S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	774	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATAGGTGGACGGCTTGACGGA	0.493																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2320-2322)Ggc>Agc		myomesin 2							40.0	39.0	39.0					8																	2046693		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2046693G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2320G>A	8.37:g.2046693G>A	ENSP00000262113:p.Gly774Ser					MYOM2_ENST00000523438.1_Missense_Mutation_p.G199S	p.G774S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	19	2461	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	774			Fibronectin type-III 4.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2320G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.567061	0.28003	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.58358	0.34;0.34	5.5	4.44	0.53790	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.485190	0.24693	N	0.036365	T	0.53061	0.1773	M	0.74647	2.275	0.24878	N	0.992249	B	0.31910	0.346	B	0.29524	0.103	T	0.54675	-0.8258	10	0.48119	T	0.1	.	15.1951	0.73081	0.0793:0.0:0.9207:0.0	.	774	P54296	MYOM2_HUMAN	S	774;199	ENSP00000262113:G774S;ENSP00000428396:G199S	ENSP00000262113:G774S	G	+	1	0	MYOM2	2034100	0.990000	0.36364	0.791000	0.31998	0.017000	0.09413	2.267000	0.43329	2.583000	0.87209	0.561000	0.74099	GGC		0.493	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	9	0	0	0	1	0	6	9				
GORAB	92344	broad.mit.edu	37	1	170511715	170511715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170511715C>A	ENST00000367763.3	+	3	598	c.578C>A	c.(577-579)gCt>gAt	p.A193D	GORAB_ENST00000367762.1_Missense_Mutation_p.A193D	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	193						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCTTTTGGCTAAAGCTATT	0.413																																						ENST00000367763.3																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(577-579)gCt>gAt		golgin, RAB6-interacting							141.0	149.0	146.0					1																	170511715		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170511715C>A	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.578C>A	1.37:g.170511715C>A	ENSP00000356737:p.Ala193Asp					GORAB_ENST00000367762.1_Missense_Mutation_p.A193D	p.A193D	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN			3	598	+			193					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.578C>A	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852936	0.91355	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.62941	-0.01;-0.01	5.88	5.88	0.94601	.	0.102843	0.64402	D	0.000002	T	0.77343	0.4116	M	0.73962	2.25	0.51767	D	0.99993	D	0.89917	1.0	D	0.76575	0.988	T	0.78440	-0.2203	10	0.87932	D	0	-14.5126	19.823	0.96605	0.0:1.0:0.0:0.0	.	193	Q5T7V8	GORAB_HUMAN	D	193	ENSP00000356737:A193D;ENSP00000356736:A193D	ENSP00000356736:A193D	A	+	2	0	GORAB	168778339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.778000	0.95560	0.655000	0.94253	GCT		0.413	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		17	184	1	0	3.41278e-10	1	4.19267e-10	17	184				
NEU2	4759	broad.mit.edu	37	2	233899543	233899543	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233899543C>A	ENST00000233840.3	+	2	919	c.919C>A	c.(919-921)Ctg>Atg	p.L307M		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	307					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GAGGGCCGACCTGGGTGCCTA	0.682																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(919-921)Ctg>Atg		sialidase 2 (cytosolic sialidase)							49.0	54.0	52.0					2																	233899543		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899543C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.919C>A	2.37:g.233899543C>A	ENSP00000233840:p.Leu307Met						p.L307M	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	919	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	307					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.919C>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247852	0.39697	.	.	ENSG00000115488	ENST00000233840	D	0.93488	-3.23	5.05	4.16	0.48862	Neuraminidase (2);	0.000000	0.45867	D	0.000331	D	0.93080	0.7797	L	0.52905	1.665	0.39005	D	0.959438	P	0.50443	0.935	P	0.55785	0.784	D	0.91045	0.4874	10	0.25106	T	0.35	-23.5824	10.0037	0.41944	0.0:0.8396:0.0:0.1604	.	307	Q9Y3R4	NEUR2_HUMAN	M	307	ENSP00000233840:L307M	ENSP00000233840:L307M	L	+	1	2	NEU2	233607787	0.996000	0.38824	0.795000	0.32087	0.009000	0.06853	1.793000	0.38764	2.343000	0.79666	0.655000	0.94253	CTG		0.682	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		4	74	1	0	0.00909568	1	0.00947522	4	74				
BRPF1	7862	broad.mit.edu	37	3	9776067	9776067	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776067C>A	ENST00000457855.1	+	1	254	c.243C>A	c.(241-243)gtC>gtA	p.V81V	BRPF1_ENST00000424362.1_Silent_p.V81V|BRPF1_ENST00000433861.2_Silent_p.V81V|BRPF1_ENST00000302054.3_Silent_p.V81V|BRPF1_ENST00000383829.2_Silent_p.V81V			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	81	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCAGAGGTCTCACAGTCAC	0.602																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(241-243)gtC>gtA		bromodomain and PHD finger containing, 1							153.0	169.0	164.0					3																	9776067		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776067C>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.243C>A	3.37:g.9776067C>A						BRPF1_ENST00000433861.2_Silent_p.V81V|BRPF1_ENST00000424362.1_Silent_p.V81V|BRPF1_ENST00000457855.1_Silent_p.V81V|BRPF1_ENST00000302054.3_Silent_p.V81V	p.V81V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	647	+	Medulloblastoma(99;0.227)		81			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.243C>A	CCDS2575.1																																																																																				0.602	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		5	112	1	0	0.184627	1	0.186383	5	112				
MORC2	22880	broad.mit.edu	37	22	31338136	31338136	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31338136T>G	ENST00000397641.3	-	7	957	c.549A>C	c.(547-549)gaA>gaC	p.E183D	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.E121D			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	183						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGTCATCACTTCCTCCTCAG	0.493																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(361-363)gaA>gaC		MORC family CW-type zinc finger 2							103.0	100.0	101.0					22																	31338136		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31338136T>G	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.549A>C	22.37:g.31338136T>G	ENSP00000380763:p.Glu183Asp					MORC2_ENST00000397641.2_Missense_Mutation_p.E183D|MORC2_ENST00000469915.1_5'UTR	p.E121D	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			8	1726	-			183					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.363A>C		.	.	.	.	.	.	.	.	.	.	T	14.14	2.447698	0.43429	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.13778	2.56;2.57	5.47	-0.575	0.11734	ATPase-like, ATP-binding domain (1);	0.266086	0.43110	N	0.000606	T	0.07999	0.0200	L	0.42581	1.335	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34551	-0.9824	10	0.26408	T	0.33	.	0.6135	0.00765	0.2359:0.1981:0.1227:0.4434	.	183	Q9Y6X9	MORC2_HUMAN	D	183;121	ENSP00000380763:E183D;ENSP00000215862:E121D	ENSP00000215862:E121D	E	-	3	2	MORC2	29668136	0.949000	0.32298	0.989000	0.46669	0.986000	0.74619	0.076000	0.14712	-0.504000	0.06577	0.454000	0.30748	GAA		0.493	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		36	66	0	0	0	1	0	36	66				
GDPGP1	390637	broad.mit.edu	37	15	90785152	90785152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90785152C>T	ENST00000558017.1	+	4	1432	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	GDPGP1_ENST00000329600.6_Missense_Mutation_p.H338Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	338					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										GCTGGCTGGGCACCTCCCTGT	0.587																																						ENST00000558017.1																			0											c.(1012-1014)Cac>Tac		GDP-D-glucose phosphorylase 1							75.0	73.0	74.0					15																	90785152		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90785152C>T		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.1012C>T	15.37:g.90785152C>T	ENSP00000452793:p.His338Tyr					GDPGP1_ENST00000329600.6_Missense_Mutation_p.H338Y	p.H338Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	1432	+			338						Missense_Mutation	SNP	ENST00000558017.1	37	c.1012C>T	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263192	0.80358	.	.	ENSG00000183208	ENST00000329600	T	0.27557	1.66	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.73598	2.24	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.50591	-0.8810	10	0.02654	T	1	-21.5153	17.1587	0.86798	0.0:1.0:0.0:0.0	.	338	Q6ZNW5	VTC2_HUMAN	Y	338	ENSP00000368405:H338Y	ENSP00000368405:H338Y	H	+	1	0	C15orf58	88586156	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.733000	0.74796	2.661000	0.90470	0.655000	0.94253	CAC		0.587	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		21	24	0	0	0	1	0	21	24				
CECR2	27443	broad.mit.edu	37	22	18028274	18028274	+	Silent	SNP	G	G	A	rs190600851	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18028274G>A	ENST00000400585.2	+	17	3243	c.2805G>A	c.(2803-2805)gcG>gcA	p.A935A	CECR2_ENST00000262608.8_Silent_p.A1078A|CECR2_ENST00000400573.5_Silent_p.A1077A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1119					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAACGCAGCGACACCGCCCA	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		17970	0.003		0.0	False		,,,				2504	0.0					ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(3232-3234)gcG>gcA		cat eye syndrome chromosome region, candidate 2							28.0	34.0	32.0					22																	18028274		2171	4268	6439	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028274G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2805G>A	22.37:g.18028274G>A						CECR2_ENST00000400573.4_Silent_p.A1077A|CECR2_ENST00000400585.2_Silent_p.A935A	p.A1078A	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3234	+		all_epithelial(15;0.139)	1119					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.3234G>A																																																																																					0.607	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	12	0	0	0	1	0	9	12				
MED24	9862	broad.mit.edu	37	17	38185090	38185090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38185090C>A	ENST00000394128.2	-	14	1479	c.1398G>T	c.(1396-1398)cgG>cgT	p.R466R	SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Silent_p.R453R|MED24_ENST00000394126.1_Silent_p.R491R|MED24_ENST00000501516.3_Silent_p.R485R|MED24_ENST00000356271.3_Silent_p.R453R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	466					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGAATTTCCGGGCGAAGG	0.642																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1471-1473)cgG>cgT		mediator complex subunit 24							53.0	60.0	58.0					17																	38185090		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38185090C>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1398G>T	17.37:g.38185090C>A						MED24_ENST00000501516.3_Silent_p.R485R|MED24_ENST00000356271.3_Silent_p.R453R|MED24_ENST00000394128.2_Silent_p.R466R|MED24_ENST00000394127.2_Silent_p.R453R	p.R491R			O75448	MED24_HUMAN			13	1891	-	Colorectal(19;0.000442)		466					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.1473G>T	CCDS11359.1																																																																																				0.642	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		9	32	1	0	6.31663e-08	1	7.49729e-08	9	32				
RPL5	6125	broad.mit.edu	37	1	93301914	93301914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93301914G>T	ENST00000370321.3	+	5	582	c.492G>T	c.(490-492)aaG>aaT	p.K164N	SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	164					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTGCCCTGAAGGGAGCTGTGG	0.483																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(490-492)aaG>aaT		ribosomal protein L5							74.0	82.0	79.0					1																	93301914		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301914G>T	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.492G>T	1.37:g.93301914G>T	ENSP00000359345:p.Lys164Asn						p.K164N	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	582	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	164					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.492G>T	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874957	0.72180	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.68331	-0.32	5.04	-0.147	0.13428	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79205	-0.1899	10	0.87932	D	0	.	5.9151	0.19050	0.3304:0.0:0.5475:0.1221	.	164	P46777	RL5_HUMAN	N	114;164;114	ENSP00000359345:K164N	ENSP00000359338:K114N	K	+	3	2	RPL5	93074502	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.361000	0.52306	0.167000	0.19631	0.460000	0.39030	AAG		0.483	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		8	125	1	0	3.09899e-07	1	3.63227e-07	8	125				
CHD6	84181	broad.mit.edu	37	20	40162052	40162052	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40162052G>T	ENST00000373233.3	-	3	368	c.191C>A	c.(190-192)gCt>gAt	p.A64D	CHD6_ENST00000373222.3_Missense_Mutation_p.A99D|CHD6_ENST00000309279.7_Missense_Mutation_p.A64D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	64	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCTCTTCAGCAGTATACAG	0.463																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(190-192)gCt>gAt		chromodomain helicase DNA binding protein 6							109.0	100.0	103.0					20																	40162052		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40162052G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.191C>A	20.37:g.40162052G>T	ENSP00000362330:p.Ala64Asp					CHD6_ENST00000373222.3_Missense_Mutation_p.A99D|CHD6_ENST00000309279.7_Missense_Mutation_p.A64D	p.A64D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			3	368	-		Myeloproliferative disorder(115;0.00425)	64					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.191C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029636	0.19512	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;T	0.94793	-2.02;-3.52;-1.32	5.63	2.49	0.30216	.	0.534271	0.18401	N	0.142348	D	0.85366	0.5680	N	0.12182	0.205	0.25033	N	0.991251	B;B	0.30439	0.279;0.1	B;B	0.28011	0.085;0.022	T	0.75167	-0.3413	10	0.23891	T	0.37	-2.0E-4	7.9151	0.29814	0.138:0.0:0.7312:0.1309	.	99;64	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	D	64;64;99;64	ENSP00000362330:A64D;ENSP00000308684:A64D;ENSP00000362319:A99D	ENSP00000308684:A64D	A	-	2	0	CHD6	39595466	0.002000	0.14202	0.831000	0.32960	0.108000	0.19459	1.179000	0.31993	0.753000	0.32945	0.650000	0.86243	GCT		0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			9	69	1	0	2.17888e-05	1	2.45068e-05	9	69				
TTN	7273	broad.mit.edu	37	2	179477749	179477749	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179477749A>G	ENST00000591111.1	-	215	45000	c.44776T>C	c.(44776-44778)Tca>Cca	p.S14926P	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S7502P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S7627P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13999P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S16567P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S7694P			Q8WZ42	TITIN_HUMAN	titin	14926	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTACTGATGTTTTGCCT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49699-49701)Tca>Cca		titin							94.0	94.0	94.0					2																	179477749		1941	4134	6075	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477749A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44776T>C	2.37:g.179477749A>G	ENSP00000465570:p.Ser14926Pro					TTN_ENST00000460472.2_Missense_Mutation_p.S7502P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13999P|TTN_ENST00000359218.5_Missense_Mutation_p.S7627P|TTN_ENST00000342175.6_Missense_Mutation_p.S7694P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S14926P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.S16567P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		265	49923	-			14926			Fibronectin type-III 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49699T>C		.	.	.	.	.	.	.	.	.	.	A	14.32	2.500923	0.44455	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76666	0.4019	H	0.96720	3.87	0.48830	D	0.99971	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.21917	0.037;0.037;0.037;0.037	T	0.78718	-0.2095	9	0.87932	D	0	.	15.9922	0.80214	1.0:0.0:0.0:0.0	.	7502;7627;7694;14926	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	13999;7502;7694;7627;7502	ENSP00000343764:S13999P;ENSP00000434586:S7502P;ENSP00000340554:S7694P;ENSP00000352154:S7627P	ENSP00000340554:S7694P	S	-	1	0	TTN	179185994	1.000000	0.71417	0.968000	0.41197	0.735000	0.41995	7.251000	0.78297	2.176000	0.68965	0.455000	0.32223	TCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	29	0	0	0	1	0	24	29				
NEURL4	84461	broad.mit.edu	37	17	7225281	7225281	+	Missense_Mutation	SNP	G	G	A	rs369371000		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7225281G>A	ENST00000399464.2	-	17	2789	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.T923I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T901I	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	925	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTCTAGAGTGACGTTCTT	0.572																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2773-2775)aCt>aTt		neuralized E3 ubiquitin protein ligase 4							97.0	96.0	97.0					17																	7225281		2149	4238	6387	SO:0001583	missense	84461							g.chr17:7225281G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2774C>T	17.37:g.7225281G>A	ENSP00000382390:p.Thr925Ile					NEURL4_ENST00000315614.7_Missense_Mutation_p.T923I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T901I	p.T925I	NM_032442.2	NP_115818.2					17	2789	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2774C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004702	0.35320	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.31510	1.5;1.49	5.87	5.87	0.94306	NEUZ (3);	0.393709	0.28889	N	0.013804	T	0.26085	0.0636	L	0.31371	0.925	0.35089	D	0.764172	B;B	0.34181	0.386;0.44	B;B	0.31245	0.077;0.126	T	0.28267	-1.0049	10	0.48119	T	0.1	-9.1974	17.7017	0.88296	0.0:0.0:1.0:0.0	.	923;925	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	923;925	ENSP00000319826:T923I;ENSP00000382390:T925I	ENSP00000319826:T923I	T	-	2	0	NEURL4	7166005	1.000000	0.71417	0.586000	0.28679	0.293000	0.27360	5.170000	0.64990	2.781000	0.95711	0.655000	0.94253	ACT		0.572	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		4	48	0	0	0	1	0	4	48				
SLC22A9	114571	broad.mit.edu	37	11	63176244	63176244	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63176244C>A	ENST00000279178.3	+	9	1743	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	498					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CACCCCTGCCCTGGATCATCT	0.502																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1492-1494)ccC>ccA		solute carrier family 22 (organic anion transporter), member 9							148.0	133.0	138.0					11																	63176244		2201	4298	6499	SO:0001819	synonymous_variant	114571				transmembrane transport	integral to membrane		g.chr11:63176244C>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1494C>A	11.37:g.63176244C>A						SLC22A9_ENST00000310969.4_3'UTR	p.P498P	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			9	1743	+			498					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	ENST00000279178.3	37	c.1494C>A	CCDS8043.1																																																																																				0.502	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		4	50	1	0	0.150653	1	0.152692	4	50				
ABHD2	11057	broad.mit.edu	37	15	89719101	89719101	+	Silent	SNP	C	C	A	rs547064918		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719101C>A	ENST00000352732.5	+	6	1117	c.597C>A	c.(595-597)acC>acA	p.T199T	ABHD2_ENST00000355100.3_Silent_p.T199T|ABHD2_ENST00000565973.1_Silent_p.T199T	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	199					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCCCCTGACCCAGCTGGTCG	0.532																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(595-597)acC>acA		abhydrolase domain containing 2							170.0	138.0	149.0					15																	89719101		2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89719101C>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.597C>A	15.37:g.89719101C>A						ABHD2_ENST00000355100.3_Silent_p.T199T|ABHD2_ENST00000565973.1_Silent_p.T199T	p.T199T	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			6	1117	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		199					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.597C>A	CCDS10348.1																																																																																				0.532	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			23	44	1	0	1.1804e-14	1	1.50872e-14	23	44				
ZNF518B	85460	broad.mit.edu	37	4	10446900	10446900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446900C>A	ENST00000326756.3	-	3	1491	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	351					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CATTGACAACCTTCACATCTA	0.448																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(1051-1053)aaG>aaT		zinc finger protein 518B							106.0	103.0	104.0					4																	10446900		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446900C>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1053G>T	4.37:g.10446900C>A	ENSP00000317614:p.Lys351Asn						p.K351N	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1491	-			351					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1053G>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	c	19.65	3.867531	0.72065	.	.	ENSG00000178163	ENST00000326756	T	0.03330	3.97	6.17	-2.14	0.07123	.	0.080006	0.51477	D	0.000087	T	0.12987	0.0315	M	0.66939	2.045	0.26494	N	0.974899	D	0.89917	1.0	D	0.77004	0.989	T	0.00797	-1.1562	10	0.87932	D	0	-26.9743	13.7491	0.62897	0.0:0.4211:0.0:0.5789	.	351	Q9C0D4	Z518B_HUMAN	N	351	ENSP00000317614:K351N	ENSP00000317614:K351N	K	-	3	2	ZNF518B	10055998	0.212000	0.23540	0.956000	0.39512	0.951000	0.60555	-0.110000	0.10824	-0.523000	0.06409	-0.726000	0.03593	AAG		0.448	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		5	112	1	0	0.0215528	1	0.0221649	5	112				
SLC27A1	376497	broad.mit.edu	37	19	17615413	17615413	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615413G>A	ENST00000252595.7	+	12	2030	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A466T|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A645T	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	645					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCGCCTTCGCCCTCTGAAG	0.622																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1933-1935)Gcc>Acc		solute carrier family 27 (fatty acid transporter), member 1							51.0	46.0	47.0					19																	17615413		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17615413G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1933G>A	19.37:g.17615413G>A	ENSP00000252595:p.Ala645Thr					SLC27A1_ENST00000598424.1_Missense_Mutation_p.A466T|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A645T|CTD-3131K8.2_ENST00000596643.1_lincRNA	p.A645T	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			12	2030	+			645					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1933G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	g	2.825	-0.243913	0.05906	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.48522	0.81;0.81	4.43	-6.95	0.01628	.	0.447179	0.23672	N	0.045701	T	0.23171	0.0560	N	0.19112	0.55	0.09310	N	1	B;B	0.29341	0.157;0.242	B;B	0.18871	0.014;0.023	T	0.11767	-1.0574	10	0.72032	D	0.01	-23.4321	10.4152	0.44318	0.0:0.0928:0.2975:0.6096	.	466;645	B7Z662;Q6PCB7	.;S27A1_HUMAN	T	645	ENSP00000413424:A645T;ENSP00000252595:A645T	ENSP00000252595:A645T	A	+	1	0	SLC27A1	17476413	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	-1.181000	0.03085	-0.751000	0.04734	-1.486000	0.00981	GCC		0.622	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		10	15	0	0	0	1	0	10	15				
ASAP2	8853	broad.mit.edu	37	2	9475264	9475264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9475264C>T	ENST00000281419.3	+	9	1145	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	ASAP2_ENST00000315273.4_Missense_Mutation_p.L269F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	269					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGATACAGCTTCGAGATAT	0.403																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(805-807)Ctt>Ttt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							98.0	101.0	100.0					2																	9475264		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9475264C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.805C>T	2.37:g.9475264C>T	ENSP00000281419:p.Leu269Phe					ASAP2_ENST00000315273.4_Missense_Mutation_p.L269F	p.L269F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			9	1145	+			269					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.805C>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380709	0.82792	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.05139	3.49;3.49	5.35	5.35	0.76521	.	0.071575	0.56097	D	0.000028	T	0.26231	0.0640	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.982;0.994	T	0.00117	-1.2035	10	0.54805	T	0.06	.	19.3055	0.94161	0.0:1.0:0.0:0.0	.	269;269	O43150-2;O43150	.;ASAP2_HUMAN	F	269	ENSP00000281419:L269F;ENSP00000316404:L269F	ENSP00000281419:L269F	L	+	1	0	ASAP2	9392715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.663000	0.46774	2.784000	0.95788	0.638000	0.83543	CTT		0.403	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		22	37	0	0	0	1	0	22	37				
ELMOD1	55531	broad.mit.edu	37	11	107518236	107518236	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107518236A>G	ENST00000265840.7	+	7	728	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ELMOD1_ENST00000443271.2_Missense_Mutation_p.I155V|ELMOD1_ENST00000531234.1_Missense_Mutation_p.I149V	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	155	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGAATCTCGGATTTCTAAGCA	0.388																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(463-465)Att>Gtt		ELMO/CED-12 domain containing 1							117.0	111.0	113.0					11																	107518236		1828	4098	5926	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107518236A>G	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.463A>G	11.37:g.107518236A>G	ENSP00000265840:p.Ile155Val					ELMOD1_ENST00000443271.2_Missense_Mutation_p.I155V|ELMOD1_ENST00000531234.1_Missense_Mutation_p.I149V	p.I155V	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	7	728	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	155			ELMO.		B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.463A>G	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.293708	0.23564	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.29655	1.56;1.56;1.56	5.27	1.56	0.23342	Engulfment/cell motility, ELMO (2);	0.147998	0.64402	N	0.000011	T	0.19846	0.0477	L	0.28556	0.865	0.46317	D	0.998981	B;B	0.23937	0.0;0.094	B;B	0.32928	0.007;0.155	T	0.07328	-1.0778	10	0.07813	T	0.8	.	9.1933	0.37213	0.7879:0.0:0.2121:0.0	.	155;155	Q8N336;G5E9S5	ELMD1_HUMAN;.	V	149;155;155	ENSP00000433232:I149V;ENSP00000265840:I155V;ENSP00000412257:I155V	ENSP00000265840:I155V	I	+	1	0	ELMOD1	107023446	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	4.972000	0.63756	0.064000	0.16427	0.533000	0.62120	ATT		0.388	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		5	47	0	0	0	1	0	5	47				
KNTC1	9735	broad.mit.edu	37	12	123024244	123024244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123024244G>A	ENST00000333479.7	+	5	565	c.388G>A	c.(388-390)Gat>Aat	p.D130N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D130N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	130					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAAAGCTAACGATGAAAATCG	0.274																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(388-390)Gat>Aat		kinetochore associated 1							33.0	32.0	33.0					12																	123024244		1788	4067	5855	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123024244G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.388G>A	12.37:g.123024244G>A	ENSP00000328236:p.Asp130Asn					KNTC1_ENST00000450485.2_Missense_Mutation_p.D130N	p.D130N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	5	565	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		130					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.388G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641072	0.29157	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.17054	2.3;2.55	4.77	4.77	0.60923	.	0.297464	0.33650	N	0.004685	T	0.08537	0.0212	N	0.14661	0.345	0.80722	D	1	D;B	0.53312	0.959;0.145	B;B	0.38378	0.272;0.004	T	0.27157	-1.0082	10	0.09843	T	0.71	-21.9312	13.617	0.62115	0.0:0.0:1.0:0.0	.	130;130	E7ES84;P50748	.;KNTC1_HUMAN	N	130	ENSP00000397992:D130N;ENSP00000328236:D130N	ENSP00000328236:D130N	D	+	1	0	KNTC1	121590197	0.967000	0.33354	0.683000	0.30040	0.888000	0.51559	1.626000	0.37039	2.337000	0.79520	0.591000	0.81541	GAT		0.274	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	2	0	0	0	1	0	5	2				
PIK3CD	5293	broad.mit.edu	37	1	9783240	9783240	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9783240A>G	ENST00000377346.4	+	20	2679	c.2484A>G	c.(2482-2484)gtA>gtG	p.V828V	PIK3CD_ENST00000361110.2_Silent_p.V852V|PIK3CD_ENST00000536656.1_Silent_p.V852V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	828	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TTGAGGTGGTACTCCGTTCAG	0.592																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2554-2556)gtA>gtG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							144.0	140.0	141.0					1																	9783240		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783240A>G		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2484A>G	1.37:g.9783240A>G						PIK3CD_ENST00000377346.4_Silent_p.V828V|PIK3CD_ENST00000361110.2_Silent_p.V852V	p.V852V			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	20	2764	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	828			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2556A>G	CCDS104.1																																																																																				0.592	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		12	118	0	0	0	1	0	12	118				
C4orf19	55286	broad.mit.edu	37	4	37591844	37591844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37591844C>T	ENST00000284437.6	+	3	345	c.167C>T	c.(166-168)cCt>cTt	p.P56L	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.P56L|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	56										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AAAAATGACCCTCAGAGGCAG	0.532																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(166-168)cCt>cTt		chromosome 4 open reading frame 19							123.0	131.0	128.0					4																	37591844		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37591844C>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.167C>T	4.37:g.37591844C>T	ENSP00000284437:p.Pro56Leu					C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.P56L	p.P56L	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	345	+			56					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.167C>T	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	C	0.455	-0.891938	0.02491	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.31769	1.48;1.48	5.54	1.86	0.25419	.	0.824833	0.10338	N	0.686654	T	0.09512	0.0234	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36212	-0.9757	10	0.02654	T	1	-1.2971	3.4792	0.07595	0.1644:0.1915:0.0:0.6441	.	56	Q8IY42	CD019_HUMAN	L	56	ENSP00000371408:P56L;ENSP00000284437:P56L	ENSP00000284437:P56L	P	+	2	0	C4orf19	37268239	0.023000	0.18921	0.000000	0.03702	0.002000	0.02628	1.456000	0.35201	0.171000	0.19730	0.655000	0.94253	CCT		0.532	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		61	106	0	0	0	1	0	61	106				
KCNC3	3748	broad.mit.edu	37	19	50826570	50826570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50826570G>A	ENST00000477616.1	-	2	1934	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.S547L	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	547					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CATGGCCAGCGAATAGTACAT	0.627																																					Melanoma(91;1496 2324 50908)	ENST00000376959.2																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(1639-1641)tCg>tTg		potassium voltage-gated channel, Shaw-related subfamily, member 3							57.0	54.0	55.0					19																	50826570		2203	4298	6501	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50826570G>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1640C>T	19.37:g.50826570G>A	ENSP00000434241:p.Ser547Leu					KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.S547L	p.S547L			Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	1803	-		all_neural(266;0.057)|Ovarian(192;0.208)	547						Missense_Mutation	SNP	ENST00000477616.1	37	c.1640C>T	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060328	0.76074	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98120	-4.73;-4.73	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000004	D	0.97785	0.9273	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.97965	1.0340	10	0.87932	D	0	.	12.3776	0.55289	0.0:0.0:1.0:0.0	.	547;547	Q14003;E7ETH1	KCNC3_HUMAN;.	L	547;547;361	ENSP00000366158:S547L;ENSP00000434241:S547L	ENSP00000366158:S547L	S	-	2	0	KCNC3	55518382	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.426000	0.97469	1.841000	0.53522	0.491000	0.48974	TCG		0.627	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		8	14	0	0	0	1	0	8	14				
MYBPC2	4606	broad.mit.edu	37	19	50964891	50964891	+	Silent	SNP	C	C	T	rs575573877		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50964891C>T	ENST00000357701.5	+	25	3075	c.3024C>T	c.(3022-3024)acC>acT	p.T1008T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1008	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGTTTACACCGAGAACATCT	0.537											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1	0.000199681	0.0008	0.0	5008	,	,		18908	0.0		0.0	False		,,,				2504	0.0					ENST00000357701.5																			0				breast(1)	1						c.(3022-3024)acC>acT		myosin binding protein C, fast type							101.0	104.0	103.0					19																	50964891		2116	4223	6339	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50964891C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.3024C>T	19.37:g.50964891C>T			OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973		p.T1008T	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	25	3075	+		all_neural(266;0.057)	1008			Fibronectin type-III 3.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.3024C>T	CCDS46152.1																																																																																				0.537	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		14	14	0	0	0	1	0	14	14				
HNRNPDL	9987	broad.mit.edu	37	4	83347637	83347637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83347637G>A	ENST00000295470.5	-	6	1346	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.Q391*|HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.Q272*	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	391	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GCATATCCCTGTCCATATCCA	0.333																																						ENST00000295470.5																			0											c.(1171-1173)Cag>Tag		heterogeneous nuclear ribonucleoprotein D-like							114.0	110.0	112.0					4																	83347637		2203	4300	6503	SO:0001587	stop_gained	9987							g.chr4:83347637G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1171C>T	4.37:g.83347637G>A	ENSP00000295470:p.Gln391*					HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.Q391*|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.Q272*|HNRNPDL_ENST00000514511.1_5'UTR	p.Q391*	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					6	1346	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Nonsense_Mutation	SNP	ENST00000295470.5	37	c.1171C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	39	7.784658	0.98489	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	.	.	.	5.67	5.67	0.87782	.	0.060196	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1373	0.98033	0.0:0.0:1.0:0.0	.	.	.	.	X	391	.	ENSP00000295470:Q391X	Q	-	1	0	HNRPDL	83566661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.015000	0.64035	2.838000	0.97847	0.561000	0.74099	CAG		0.333	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		27	64	0	0	0	1	0	27	64				
APOBEC3D	140564	broad.mit.edu	37	22	39418966	39418966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39418966G>T	ENST00000216099.8	+	2	564	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.G53W|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.G53W	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	53					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTGGGACACAGGGGTCTTTCG	0.498																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(157-159)Ggg>Tgg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							54.0	61.0	59.0					22																	39418966		2203	4300	6503	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39418966G>T	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.157G>T	22.37:g.39418966G>T	ENSP00000216099:p.Gly53Trp					APOBEC3D_ENST00000427494.2_Missense_Mutation_p.G53W|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.G53W	p.G53W	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			2	564	+	Melanoma(58;0.04)		53					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.157G>T	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311640	0.40895	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.66280	-0.11;-0.11;-0.2	2.54	1.51	0.23008	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.75997	0.3926	M	0.83774	2.66	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;P	0.91635	0.969;0.999;0.887	T	0.61138	-0.7123	9	0.87932	D	0	.	5.0725	0.14613	0.1736:0.0:0.8264:0.0	.	53;53;53	B2CML4;Q6ICH2;Q96AK3	.;.;ABC3D_HUMAN	W	53	ENSP00000370980:G53W;ENSP00000216099:G53W;ENSP00000388017:G53W	ENSP00000216099:G53W	G	+	1	0	APOBEC3D	37748912	0.046000	0.20272	0.151000	0.22473	0.181000	0.23173	0.957000	0.29215	0.642000	0.30620	0.485000	0.47835	GGG		0.498	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		4	51	1	0	0.00909568	1	0.00947522	4	51				
CBR4	84869	broad.mit.edu	37	4	169928023	169928023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169928023T>A	ENST00000306193.3	-	3	451	c.283A>T	c.(283-285)Aca>Tca	p.T95S	CBR4_ENST00000509108.1_5'Flank|CBR4_ENST00000504480.1_Missense_Mutation_p.T95S|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	95					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCAGTTTTTGTTCTTACTAAA	0.353																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(283-285)Aca>Tca		carbonyl reductase 4							159.0	161.0	160.0					4																	169928023		2203	4300	6503	SO:0001583	missense	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169928023T>A	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.283A>T	4.37:g.169928023T>A	ENSP00000303525:p.Thr95Ser					CBR4_ENST00000504480.1_Missense_Mutation_p.T95S	p.T95S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	3	451	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	95					Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	c.283A>T	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437932	0.62955	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	D;D;D	0.87809	-2.3;-2.3;-2.3	5.87	3.44	0.39384	NAD(P)-binding domain (1);	0.196730	0.52532	D	0.000065	T	0.79787	0.4506	L	0.35288	1.05	0.45284	D	0.998286	P	0.35383	0.498	B	0.37267	0.245	T	0.71803	-0.4482	9	.	.	.	.	10.2008	0.43082	0.0:0.1326:0.0:0.8674	.	95	Q8N4T8	CBR4_HUMAN	S	95;95;92	ENSP00000303525:T95S;ENSP00000427615:T95S;ENSP00000423128:T92S	.	T	-	1	0	CBR4	170164598	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.210000	0.42816	0.481000	0.27557	0.528000	0.53228	ACA		0.353	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		76	111	0	0	0	1	0	76	111				
OR2C3	81472	broad.mit.edu	37	1	247695568	247695568	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247695568G>A	ENST00000366487.3	-	2	607	c.246C>T	c.(244-246)ctC>ctT	p.L82L	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTTAGCCAGGAGCTGTGGGA	0.537																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(244-246)ctC>ctT		olfactory receptor, family 2, subfamily C, member 3							109.0	103.0	105.0					1																	247695568		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695568G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.246C>T	1.37:g.247695568G>A						GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	p.L82L	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	607	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	82					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.246C>T	CCDS1634.2																																																																																				0.537	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		27	23	0	0	0	1	0	27	23				
PRKCE	5581	broad.mit.edu	37	2	46386777	46386777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46386777C>T	ENST00000306156.3	+	14	2280	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	AGCGCCTGGGCTGTGTGGCAT	0.547																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(1951-1953)ggC>ggT		protein kinase C, epsilon							120.0	121.0	121.0					2																	46386777		1911	3892	5803	SO:0001819	synonymous_variant	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46386777C>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1953C>T	2.37:g.46386777C>T							p.G651G	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		14	2280	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	651			Protein kinase.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	c.1953C>T	CCDS1824.1																																																																																				0.547	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			27	64	0	0	0	1	0	27	64				
YWHAG	7532	broad.mit.edu	37	7	75958909	75958909	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75958909G>A	ENST00000307630.3	-	2	951	c.729C>T	c.(727-729)ggC>ggT	p.G243G		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	243					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)	p.G243G(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGTTGCCTTCGCCGCCATCGT	0.597																																						ENST00000307630.3																			1	Substitution - coding silent(1)	p.G243G(1)	large_intestine(1)	endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(727-729)ggC>ggT		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide							51.0	42.0	45.0					7																	75958909		2203	4300	6503	SO:0001819	synonymous_variant	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75958909G>A	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.729C>T	7.37:g.75958909G>A							p.G243G	NM_012479.3	NP_036611.2	P61981	1433G_HUMAN			2	951	-			243					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP	ENST00000307630.3	37	c.729C>T	CCDS5584.1																																																																																				0.597	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		15	9	0	0	0	1	0	15	9				
KDR	3791	broad.mit.edu	37	4	55968162	55968162	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55968162G>A	ENST00000263923.4	-	15	2463	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	723	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCGGATAGTGAGGTTCCG	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2167-2169)aCt>aTt		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						130.0	123.0	125.0					4																	55968162		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968162G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2168C>T	4.37:g.55968162G>A	ENSP00000263923:p.Thr723Ile	TSP Lung(20;0.16)					p.T723I	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		15	2463	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		723			Ig-like C2-type 7.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2168C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279682	0.80692	.	.	ENSG00000128052	ENST00000263923	T	0.69040	-0.37	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69453	-0.5141	10	0.21014	T	0.42	.	20.4097	0.99016	0.0:0.0:1.0:0.0	.	723	P35968	VGFR2_HUMAN	I	723	ENSP00000263923:T723I	ENSP00000263923:T723I	T	-	2	0	KDR	55662919	1.000000	0.71417	0.319000	0.25293	0.823000	0.46562	5.584000	0.67490	2.828000	0.97474	0.650000	0.86243	ACT		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			31	61	0	0	0	1	0	31	61				
HADHA	3030	broad.mit.edu	37	2	26424180	26424180	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26424180G>A	ENST00000380649.3	-	13	1359	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	410					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCACTTTGTCATTCAATC	0.403																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(1228-1230)gaC>gaT		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						91.0	88.0	89.0					2																	26424180		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26424180G>A	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1230C>T	2.37:g.26424180G>A							p.D410D	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			13	1359	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		410					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.1230C>T	CCDS1721.1																																																																																				0.403	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		6	53	0	0	0	1	0	6	53				
IFNK	56832	broad.mit.edu	37	9	27524785	27524785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27524785G>T	ENST00000276943.2	+	1	474	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	151					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAAACCCTCAGAAGCCAGGGT	0.443																																						ENST00000276943.2																			0				large_intestine(1)	1						c.(451-453)Gaa>Taa		interferon, kappa							72.0	76.0	75.0					9																	27524785		2203	4299	6502	SO:0001587	stop_gained	56832				cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:27524785G>T	AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.451G>T	9.37:g.27524785G>T	ENSP00000276943:p.Glu151*					MOB3B_ENST00000262244.5_Intron	p.E151*	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)	1	474	+		all_neural(11;7.9e-11)	151					Q5T166	Nonsense_Mutation	SNP	ENST00000276943.2	37	c.451G>T	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234617	0.58886	.	.	ENSG00000147896	ENST00000276943	.	.	.	6.02	2.15	0.27550	.	1.953870	0.02859	N	0.130048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.2475	5.4572	0.16598	0.2403:0.15:0.6098:0.0	.	.	.	.	X	151	.	ENSP00000276943:E151X	E	+	1	0	IFNK	27514785	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.516000	0.22817	0.140000	0.18849	-0.142000	0.14014	GAA		0.443	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124		25	36	1	0	1.85244e-09	1	2.25385e-09	25	36				
MMP20	9313	broad.mit.edu	37	11	102477310	102477310	+	Silent	SNP	G	G	A	rs145296288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102477310G>A	ENST00000260228.2	-	6	921	c.909C>T	c.(907-909)gaC>gaT	p.D303D	MMP20_ENST00000544938.1_5'UTR|RP11-817J15.2_ENST00000544115.1_RNA|RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	322					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TTGTCACAGCGTCAAAGGATG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19792	0.001		0.0	False		,,,				2504	0.0					ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(907-909)gaC>gaT		matrix metallopeptidase 20		G		1,4405	2.1+/-5.4	0,1,2202	126.0	110.0	115.0		909	3.0	1.0	11	dbSNP_134	115	0,8598		0,0,4299	no	coding-synonymous	MMP20	NM_004771.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		303/484	102477310	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477310G>A	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.909C>T	11.37:g.102477310G>A						MMP20_ENST00000544938.1_5'UTR	p.D303D	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	921	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	303			Hemopexin-like 1.		D3DUA8|Q9H3Q0	Silent	SNP	ENST00000260228.2	37	c.909C>T	CCDS8318.1																																																																																				0.577	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			14	28	0	0	0	1	0	14	28				
ETAA1	54465	broad.mit.edu	37	2	67630708	67630708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67630708C>T	ENST00000272342.5	+	5	1024	c.894C>T	c.(892-894)agC>agT	p.S298S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	298						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTTAAGCCAAGAACTGC	0.378																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(892-894)agC>agT		Ewing tumor-associated antigen 1							69.0	72.0	71.0					2																	67630708		2203	4300	6503	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67630708C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.894C>T	2.37:g.67630708C>T						ETAA1_ENST00000462772.1_Intron	p.S298S	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	1024	+			298					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.894C>T	CCDS1882.1																																																																																				0.378	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		29	54	0	0	0	1	0	29	54				
PROM1	8842	broad.mit.edu	37	4	15985894	15985894	+	Missense_Mutation	SNP	C	C	T	rs532125484		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15985894C>T	ENST00000510224.1	-	23	2613	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	PROM1_ENST00000543373.1_Missense_Mutation_p.D780N|PROM1_ENST00000508167.1_Missense_Mutation_p.D780N|PROM1_ENST00000540805.1_Missense_Mutation_p.D789N|PROM1_ENST00000447510.2_Missense_Mutation_p.D789N|PROM1_ENST00000539194.1_Missense_Mutation_p.D789N|PROM1_ENST00000505450.1_Missense_Mutation_p.D780N			O43490	PROM1_HUMAN	prominin 1	789					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACCAAGGGGTCGATAATGTAG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19160	0.001		0.0	False		,,,				2504	0.0					ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(2338-2340)Gac>Aac		prominin 1							71.0	70.0	71.0					4																	15985894		1911	4126	6037	SO:0001583	missense	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15985894C>T	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2365G>A	4.37:g.15985894C>T	ENSP00000426809:p.Asp789Asn					PROM1_ENST00000543373.1_Missense_Mutation_p.D780N|PROM1_ENST00000510224.1_Missense_Mutation_p.D789N|PROM1_ENST00000447510.2_Missense_Mutation_p.D789N|PROM1_ENST00000508167.1_Missense_Mutation_p.D780N|PROM1_ENST00000540805.1_Missense_Mutation_p.D789N|PROM1_ENST00000539194.1_Missense_Mutation_p.D789N	p.D780N	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			22	2950	-			789					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.2338G>A	CCDS47029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.67|14.67	2.603485|2.603485	0.46423|0.46423	.|.	.|.	ENSG00000007062|ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373|ENST00000513946	T;T;T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63;0.63;0.63|.	5.91|5.91	2.03|2.03	0.26663|0.26663	.|.	0.303528|.	0.38605|.	N|.	0.001628|.	T|T	0.62392|0.62392	0.2424|0.2424	M|M	0.72894|0.72894	2.215|2.215	0.38245|0.38245	D|D	0.941437|0.941437	D;D;D;D;D;D|.	0.65815|.	0.984;0.984;0.957;0.984;0.995;0.987|.	P;P;P;P;P;P|.	0.55577|.	0.599;0.599;0.481;0.599;0.754;0.779|.	T|T	0.60821|0.60821	-0.7187|-0.7187	10|5	0.44086|.	T|.	0.13|.	-19.3881|-19.3881	7.5573|7.5573	0.27831|0.27831	0.0:0.6758:0.1167:0.2075|0.0:0.6758:0.1167:0.2075	.|.	780;789;780;789;780;789|.	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490|.	.;.;.;.;.;PROM1_HUMAN|.	N|Q	789;789;789;780;780;789;780|39	ENSP00000415481:D789N;ENSP00000438045:D789N;ENSP00000443620:D789N;ENSP00000426090:D780N;ENSP00000427346:D780N;ENSP00000426809:D789N;ENSP00000445526:D780N|.	ENSP00000415481:D789N|.	D|R	-|-	1|2	0|0	PROM1|PROM1	15594992|15594992	0.556000|0.556000	0.26538|0.26538	0.010000|0.010000	0.14722|0.14722	0.001000|0.001000	0.01503|0.01503	0.878000|0.878000	0.28126|0.28126	0.327000|0.327000	0.23409|0.23409	-0.345000|-0.345000	0.07892|0.07892	GAC|CGA		0.393	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		6	8	0	0	0	1	0	6	8				
PLA2G4B	100137049	broad.mit.edu	37	15	42133259	42133259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42133259G>T	ENST00000452633.1	+	6	710	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.G351W|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.G351W|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.G120W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G351W			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	120					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCAGGGTGAGGGGCGCCTGGA	0.557																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1051-1053)Ggg>Tgg									101.0	104.0	103.0					15																	42133259		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42133259G>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.358G>T	15.37:g.42133259G>T	ENSP00000396045:p.Gly120Trp					PLA2G4B_ENST00000452633.1_Missense_Mutation_p.G120W|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.G120W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G351W	p.G351W	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			10	1060	+			120			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1051G>T	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.01	2.705526	0.48412	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	4.7	1.72	0.24424	C2 calcium/lipid-binding domain, CaLB (1);	1.047430	0.07494	N	0.906083	T	0.10423	0.0255	N	0.22421	0.69	0.09310	N	1	D;P;D	0.55800	0.971;0.844;0.973	P;P;P	0.46479	0.502;0.518;0.517	T	0.35325	-0.9793	10	0.54805	T	0.06	-9.2673	7.9646	0.30091	0.0888:0.37:0.5412:0.0	.	120;351;351	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	W	351;351;120;120	ENSP00000371886:G351W;ENSP00000342785:G351W;ENSP00000416610:G120W;ENSP00000396045:G120W	ENSP00000342785:G351W	G	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920551	0.004000	0.15560	0.000000	0.03702	0.154000	0.21943	0.853000	0.27777	0.277000	0.22141	0.655000	0.94253	GGG		0.557	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		11	99	1	0	0.000151284	1	0.000166931	11	99				
ACSM3	6296	broad.mit.edu	37	16	20781367	20781367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20781367G>A	ENST00000289416.5	+	2	486	c.11G>A	c.(10-12)cGt>cAt	p.R4H	ACSM3_ENST00000450120.2_5'Flank|ACSM3_ENST00000440284.2_Missense_Mutation_p.R4H	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	4					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGCTAGCTCGTGTCACCAGG	0.433																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(10-12)cGt>cAt		acyl-CoA synthetase medium-chain family member 3							140.0	116.0	124.0					16																	20781367		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20781367G>A	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.11G>A	16.37:g.20781367G>A	ENSP00000289416:p.Arg4His					ACSM3_ENST00000440284.2_Missense_Mutation_p.R4H	p.R4H	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			2	486	+			4					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.11G>A	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	0.756	-0.771008	0.02974	.	.	ENSG00000005187	ENST00000289416;ENST00000440284	T;T	0.44881	0.91;1.63	5.81	1.11	0.20524	.	2.052330	0.01856	N	0.036266	T	0.22244	0.0536	N	0.08118	0	0.28519	N	0.913182	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.13282	-1.0515	10	0.29301	T	0.29	-0.024	1.509	0.02492	0.1296:0.1497:0.2784:0.4422	.	4;4	Q53FZ2;Q53FZ2-2	ACSM3_HUMAN;.	H	4	ENSP00000289416:R4H;ENSP00000394565:R4H	ENSP00000289416:R4H	R	+	2	0	ACSM3	20688868	0.001000	0.12720	0.270000	0.24601	0.000000	0.00434	-0.019000	0.12546	-0.078000	0.12730	-2.051000	0.00406	CGT		0.433	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		21	29	0	0	0	1	0	21	29				
GRK4	2868	broad.mit.edu	37	4	3037201	3037201	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3037201A>C	ENST00000398052.4	+	13	1701	c.1358A>C	c.(1357-1359)aAc>aCc	p.N453T	GRK4_ENST00000504933.1_Missense_Mutation_p.N453T|GRK4_ENST00000345167.6_Missense_Mutation_p.N421T|GRK4_ENST00000398051.4_Missense_Mutation_p.N421T|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	453	AGC-kinase C-terminal.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGACATCAACTTCAGGAGG	0.592																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1357-1359)aAc>aCc		G protein-coupled receptor kinase 4							104.0	92.0	96.0					4																	3037201		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3037201A>C		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1358A>C	4.37:g.3037201A>C	ENSP00000381129:p.Asn453Thr					GRK4_ENST00000398051.4_Missense_Mutation_p.N421T|GRK4_ENST00000345167.6_Missense_Mutation_p.N421T|GRK4_ENST00000504933.1_Missense_Mutation_p.N453T|GRK4_ENST00000509545.1_Intron	p.N453T	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	1701	+			453			AGC-kinase C-terminal.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.1358A>C	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250424	0.80024	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.46	3.04	0.35103	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	T	0.48909	0.1526	M	0.90483	3.12	0.80722	D	1	D;P;P;P	0.64830	0.994;0.898;0.909;0.9	P;P;P;B	0.57283	0.817;0.632;0.502;0.415	T	0.53885	-0.8375	10	0.87932	D	0	-38.1724	9.3187	0.37950	0.8539:0.0:0.1461:0.0	.	421;421;453;453	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	T	421;453;421;453	ENSP00000381128:N421T;ENSP00000381129:N453T;ENSP00000264764:N421T;ENSP00000427445:N453T	ENSP00000264764:N421T	N	+	2	0	GRK4	3006999	1.000000	0.71417	0.983000	0.44433	0.905000	0.53344	7.224000	0.78042	0.466000	0.27193	0.402000	0.26972	AAC		0.592	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		8	68	0	0	0	1	0	8	68				
ADAMTSL4	54507	broad.mit.edu	37	1	150525680	150525680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525680G>A	ENST00000369038.2	+	3	586	c.385G>A	c.(385-387)Gct>Act	p.A129T	MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A129T			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	129					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCGAGGTCCCGCTTCCCACCT	0.662																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(385-387)Gct>Act		ADAMTS-like 4							27.0	32.0	30.0					1																	150525680		2193	4286	6479	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525680G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.385G>A	1.37:g.150525680G>A	ENSP00000358034:p.Ala129Thr					ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A129T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A129T	p.A129T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	621	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		129					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.385G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713210	0.48517	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.62941	0.08;-0.01;0.28;-0.01	4.16	3.17	0.36434	.	.	.	.	.	T	0.39886	0.1095	L	0.47716	1.5	0.09310	N	1	D;P;D;D	0.56287	0.957;0.601;0.957;0.975	B;B;B;B	0.42851	0.17;0.043;0.17;0.4	T	0.11131	-1.0600	9	0.46703	T	0.11	.	10.3498	0.43927	0.0:0.2007:0.7993:0.0	.	129;129;129;129	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	T	129	ENSP00000358037:A129T;ENSP00000271643:A129T;ENSP00000358035:A129T;ENSP00000358034:A129T	ENSP00000271643:A129T	A	+	1	0	ADAMTSL4	148792304	0.330000	0.24705	0.705000	0.30386	0.812000	0.45895	1.549000	0.36212	2.029000	0.59856	0.561000	0.74099	GCT		0.662	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		23	41	0	0	0	1	0	23	41				
C5orf42	65250	broad.mit.edu	37	5	37121769	37121769	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37121769T>C	ENST00000508244.1	-	47	9066	c.8973A>G	c.(8971-8973)aaA>aaG	p.K2991K	C5orf42_ENST00000425232.2_Silent_p.K2991K|C5orf42_ENST00000274258.7_Silent_p.K1889K|C5orf42_ENST00000512288.1_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2991						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGGGCTGGGTTTGTTAGGCA	0.463																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(5665-5667)aaA>aaG		chromosome 5 open reading frame 42							302.0	258.0	273.0					5																	37121769		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37121769T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8973A>G	5.37:g.37121769T>C						C5orf42_ENST00000425232.2_Silent_p.K2991K|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Silent_p.K2991K	p.K1889K			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		48	9254	-	all_lung(31;0.000616)		2991					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.5667A>G	CCDS34146.2																																																																																				0.463	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		17	41	0	0	0	1	0	17	41				
TNFRSF11A	8792	broad.mit.edu	37	18	60029004	60029004	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60029004G>T	ENST00000586569.1	+	7	746	c.708G>T	c.(706-708)agG>agT	p.R236S	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	236					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTGCTATAGGAAAAAAGGGA	0.423																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(706-708)agG>agT		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							174.0	165.0	168.0					18																	60029004		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60029004G>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.708G>T	18.37:g.60029004G>T	ENSP00000465500:p.Arg236Ser					TNFRSF11A_ENST00000269485.7_Intron	p.R236S	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			7	746	+		Colorectal(73;0.188)	236					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.708G>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910121	0.72983	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.66	4.79	0.61399	.	0.148429	0.45361	D	0.000365	T	0.58637	0.2136	M	0.67953	2.075	0.31377	N	0.679451	D	0.69078	0.997	P	0.58520	0.84	T	0.65833	-0.6072	8	.	.	.	-24.5212	9.4095	0.38482	0.0769:0.1437:0.7794:0.0	.	236	Q9Y6Q6	TNR11_HUMAN	S	236	.	.	R	+	3	2	TNFRSF11A	58179984	1.000000	0.71417	0.981000	0.43875	0.829000	0.46940	1.133000	0.31430	1.527000	0.49086	0.655000	0.94253	AGG		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			84	101	1	0	7.83748e-43	1	1.05787e-42	84	101				
ABCD1	215	broad.mit.edu	37	X	152991417	152991417	+	Silent	SNP	G	G	A	rs147595334	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991417G>A	ENST00000218104.3	+	1	1095	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ABCD1_ENST00000370129.4_Silent_p.A47A|BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000458587.2_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	232	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCGGGCGGCCCGCTCCC	0.682																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(694-696)gcG>gcA		ATP-binding cassette, sub-family D (ALD), member 1							38.0	38.0	38.0					X																	152991417		2203	4299	6502	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991417G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.696G>A	X.37:g.152991417G>A						ABCD1_ENST00000370129.4_Silent_p.A47A	p.A232A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	1095	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		232			ABC transmembrane type-1.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.696G>A	CCDS14728.1																																																																																				0.682	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	36	0	0	0	1	0	3	36				
PCDHB2	56133	broad.mit.edu	37	5	140474606	140474606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140474606C>T	ENST00000194155.4	+	1	380	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTTGCAGTTCGATAG	0.512																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(232-234)Cag>Tag									72.0	78.0	76.0					5																	140474606		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474606C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.232C>T	5.37:g.140474606C>T	ENSP00000194155:p.Gln78*						p.Q78*	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	380	+			78			Cadherin 1.		Q4KMU1	Nonsense_Mutation	SNP	ENST00000194155.4	37	c.232C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851408	0.32699	.	.	ENSG00000112852	ENST00000194155	.	.	.	5.37	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	11.5493	0.50711	0.1361:0.7243:0.1395:0.0	.	.	.	.	X	78	.	ENSP00000194155:Q78X	Q	+	1	0	PCDHB2	140454790	0.000000	0.05858	0.360000	0.25837	0.008000	0.06430	0.195000	0.17155	1.358000	0.45922	0.655000	0.94253	CAG		0.512	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		15	39	0	0	0	1	0	15	39				
NOTCH3	4854	broad.mit.edu	37	19	15271598	15271598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15271598C>T	ENST00000263388.2	-	33	6916	c.6841G>A	c.(6841-6843)Gcc>Acc	p.A2281T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2281					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGTGGTGGCCATGGCCCCA	0.672																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6841-6843)Gcc>Acc		notch 3							43.0	49.0	47.0					19																	15271598		2203	4299	6502	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271598C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6841G>A	19.37:g.15271598C>T	ENSP00000263388:p.Ala2281Thr						p.A2281T	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6916	-			2281					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.6841G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	5.432	0.264843	0.10294	.	.	ENSG00000074181	ENST00000263388	T	0.80994	-1.44	3.28	0.803	0.18691	.	.	.	.	.	T	0.58380	0.2118	N	0.08118	0	0.26167	N	0.979917	B	0.14438	0.01	B	0.09377	0.004	T	0.42275	-0.9461	9	0.13108	T	0.6	.	9.0724	0.36500	0.384:0.616:0.0:0.0	.	2281	Q9UM47	NOTC3_HUMAN	T	2281	ENSP00000263388:A2281T	ENSP00000263388:A2281T	A	-	1	0	NOTCH3	15132598	0.996000	0.38824	0.179000	0.23059	0.801000	0.45260	0.746000	0.26275	0.698000	0.31739	0.467000	0.42956	GCC		0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		18	28	0	0	0	1	0	18	28				
HNRNPUL1	11100	broad.mit.edu	37	19	41798220	41798220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41798220G>A	ENST00000392006.3	+	8	1243	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R243Q|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R268Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R357Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGCTTTCCGAATCCAGAAG	0.478																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1069-1071)cGa>cAa		heterogeneous nuclear ribonucleoprotein U-like 1							156.0	156.0	156.0					19																	41798220		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41798220G>A	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1070G>A	19.37:g.41798220G>A	ENSP00000375863:p.Arg357Gln					HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R268Q|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R357Q|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R243Q	p.R357Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			8	1243	+			357			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1070G>A	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916822	0.73098	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	6.04	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	L	0.59436	1.845	0.40140	D	0.97682	P;P;P;D;B;B	0.71674	0.504;0.635;0.744;0.998;0.3;0.449	B;B;B;P;B;B	0.59424	0.19;0.19;0.18;0.857;0.258;0.119	T	0.73820	-0.3862	10	0.30078	T	0.28	-9.9146	14.2525	0.66028	0.0721:0.0:0.9279:0.0	.	268;257;357;243;357;257	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	Q	257;357;243;268	ENSP00000340857:R257Q;ENSP00000375863:R357Q;ENSP00000367460:R243Q;ENSP00000263367:R268Q	ENSP00000263367:R268Q	R	+	2	0	HNRNPUL1	46490060	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	2.995000	0.49441	1.577000	0.49804	-0.251000	0.11542	CGA		0.478	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		7	165	0	0	0	1	0	7	165				
PIK3C2G	5288	broad.mit.edu	37	12	18691180	18691180	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18691180A>G	ENST00000266497.5	+	23	3329	c.3291A>G	c.(3289-3291)gaA>gaG	p.E1097E	PIK3C2G_ENST00000538779.1_Silent_p.E1138E|PIK3C2G_ENST00000433979.1_Silent_p.E1097E			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1097	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTTGTGGAACTTTGCTGTC	0.383																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3289-3291)gaA>gaG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							88.0	83.0	85.0					12																	18691180		1807	4066	5873	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18691180A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3291A>G	12.37:g.18691180A>G						PIK3C2G_ENST00000266497.5_Silent_p.E1097E|PIK3C2G_ENST00000538779.1_Silent_p.E1138E	p.E1097E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			24	3407	+		Hepatocellular(102;0.194)	1097			PI3K/PI4K.		A1L3U0	Silent	SNP	ENST00000266497.5	37	c.3291A>G	CCDS44839.1																																																																																				0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		22	30	0	0	0	1	0	22	30				
FKBP14	55033	broad.mit.edu	37	7	30054474	30054474	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30054474A>G	ENST00000222803.5	-	4	688	c.513T>C	c.(511-513)caT>caC	p.H171H	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	171					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CCACCGCACCATGTTTTTCAA	0.338																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(511-513)caT>caC		FK506 binding protein 14, 22 kDa							104.0	96.0	99.0					7																	30054474		2203	4300	6503	SO:0001819	synonymous_variant	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30054474A>G	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.513T>C	7.37:g.30054474A>G						AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	p.H171H	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			4	688	-			171						Silent	SNP	ENST00000222803.5	37	c.513T>C	CCDS5423.1																																																																																				0.338	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		4	99	0	0	0	1	0	4	99				
UNC5C	8633	broad.mit.edu	37	4	96222898	96222898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96222898G>A	ENST00000453304.1	-	3	697	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	UNC5C_ENST00000506749.1_Missense_Mutation_p.L117F|UNC5C_ENST00000504962.1_Missense_Mutation_p.L117F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	117	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGGACAATGAGACCTGACAAG	0.433																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(349-351)Ctc>Ttc		unc-5 homolog C (C. elegans)							52.0	44.0	47.0					4																	96222898		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96222898G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.349C>T	4.37:g.96222898G>A	ENSP00000406022:p.Leu117Phe					UNC5C_ENST00000504962.1_Missense_Mutation_p.L117F|UNC5C_ENST00000506749.1_Missense_Mutation_p.L117F	p.L117F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	697	-		Hepatocellular(203;0.114)	117			Ig-like.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.349C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048914	0.75846	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.72	5.72	0.89469	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	M	0.84683	2.71	0.58432	D	0.999999	D;D;D	0.76494	0.985;0.999;0.995	P;D;D	0.73708	0.866;0.981;0.979	D	0.89295	0.3622	10	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	117;117;117	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	F	117;76;117;117;117	ENSP00000406022:L117F;ENSP00000426924:L117F;ENSP00000426153:L117F;ENSP00000425117:L117F	ENSP00000328673:L76F	L	-	1	0	UNC5C	96441921	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	4.102000	0.57776	2.696000	0.92011	0.650000	0.86243	CTC		0.433	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		4	14	0	0	0	1	0	4	14				
GABRA6	2559	broad.mit.edu	37	5	161119197	161119197	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161119197G>T	ENST00000274545.5	+	8	1510	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	GABRA6_ENST00000523217.1_Missense_Mutation_p.E349D|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	359					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGGAAGCTGAGATTGTTTTGG	0.398										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1045-1047)gaG>gaT		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						141.0	128.0	132.0					5																	161119197		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119197G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1077G>T	5.37:g.161119197G>T	ENSP00000274545:p.Glu359Asp	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.E359D	p.E349D	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1289	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	359					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1047G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060373	0.19987	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.24	4.36	0.52297	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.119980	0.06708	N	0.772603	T	0.79551	0.4465	L	0.39397	1.21	0.41667	D	0.989218	B	0.12630	0.006	B	0.25759	0.063	T	0.60352	-0.7280	10	0.21540	T	0.41	.	13.7641	0.62983	0.0765:0.0:0.9235:0.0	.	359	Q16445	GBRA6_HUMAN	D	359;349	ENSP00000274545:E359D;ENSP00000430527:E349D	ENSP00000274545:E359D	E	+	3	2	GABRA6	161051775	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.299000	0.43611	2.428000	0.82296	0.557000	0.71058	GAG		0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			31	56	1	0	1.30897e-18	1	1.70928e-18	31	56				
PNCK	139728	broad.mit.edu	37	X	152936198	152936198	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152936198C>A	ENST00000370150.1	-	10	1073		c.e10+1		PNCK_ENST00000340888.3_Splice_Site|PNCK_ENST00000370145.4_Splice_Site|PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000393831.2_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000475172.1_5'Flank			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACACTGACCTTCCAGTGT	0.607																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.e10+1		pregnancy up-regulated nonubiquitous CaM kinase							48.0	41.0	44.0					X																	152936198		2203	4300	6503	SO:0001630	splice_region_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936198C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.894+1G>T	X.37:g.152936198C>A						PNCK_ENST00000340888.3_Splice_Site|PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000370145.4_Splice_Site		NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			10	1398	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Splice_Site	SNP	ENST00000370150.1	37			.	.	.	.	.	.	.	.	.	.	C	12.38	1.921605	0.33908	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000438984;ENST00000370142;ENST00000370145;ENST00000447676	.	.	.	4.34	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4418	0.55629	0.0:0.833:0.1669:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNCK	152589392	1.000000	0.71417	0.971000	0.41717	0.432000	0.31715	4.572000	0.60886	0.732000	0.32470	0.529000	0.55759	.		0.607	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452	Intron	16	12	1	0	1.5739e-10	1	1.9432e-10	16	12				
ZFP37	7539	broad.mit.edu	37	9	115806439	115806439	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115806439G>A	ENST00000374227.3	-	4	486	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ZFP37_ENST00000553380.1_Silent_p.D168D|ZFP37_ENST00000555206.1_Silent_p.D154D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGAACCACAGTCACTGCCAT	0.348																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(457-459)gaC>gaT		ZFP37 zinc finger protein							80.0	85.0	84.0					9																	115806439		2200	4292	6492	SO:0001819	synonymous_variant	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806439G>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.459C>T	9.37:g.115806439G>A						ZFP37_ENST00000555206.1_Silent_p.D154D|ZFP37_ENST00000553380.1_Silent_p.D168D	p.D153D			Q9Y6Q3	ZFP37_HUMAN			4	486	-			153					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	c.459C>T	CCDS6787.1																																																																																				0.348	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		53	75	0	0	0	1	0	53	75				
ATP2A2	488	broad.mit.edu	37	12	110764194	110764194	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110764194G>T	ENST00000539276.2	+	7	653		c.e7-1		ATP2A2_ENST00000395494.2_Splice_Site|ATP2A2_ENST00000308664.6_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AACCCGCTTAGGTGAATCTGT	0.463																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.e6-1		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							119.0	103.0	108.0					12																	110764194		2203	4300	6503	SO:0001630	splice_region_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110764194G>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.545-1G>T	12.37:g.110764194G>T						ATP2A2_ENST00000539276.2_Splice_Site|ATP2A2_ENST00000308664.6_Splice_Site				P16615	AT2A2_HUMAN			6	1026	+								A6NDN7|B4DF05|P16614|Q86VJ2	Splice_Site	SNP	ENST00000539276.2	37		CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685319	0.88639	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276;ENST00000548169	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4275	0.94749	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2A2	109248577	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.835000	0.99442	2.665000	0.90641	0.650000	0.86243	.		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	Intron	6	20	1	0	3.59834e-05	1	4.01776e-05	6	20				
PIP4K2A	5305	broad.mit.edu	37	10	22830767	22830767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22830767C>T	ENST00000376573.4	-	8	1230	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PIP4K2A_ENST00000545335.1_Silent_p.P275P|PIP4K2A_ENST00000323883.7_Silent_p.P194P	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	334	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGTCGATGTTCGGATCGAACT	0.537																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(1000-1002)ccG>ccA		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							74.0	70.0	72.0					10																	22830767		2203	4300	6503	SO:0001819	synonymous_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830767C>T	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.1002G>A	10.37:g.22830767C>T						PIP4K2A_ENST00000323883.7_Silent_p.P194P|PIP4K2A_ENST00000545335.1_Silent_p.P275P	p.P334P	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			8	1230	-			334			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	c.1002G>A	CCDS7141.1																																																																																				0.537	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		23	33	0	0	0	1	0	23	33				
RTN4RL2	349667	broad.mit.edu	37	11	57235240	57235240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57235240C>T	ENST00000533205.1	+	2	199	c.190C>T	c.(190-192)Cga>Tga	p.R64*	RTN4RL2_ENST00000395120.2_Nonsense_Mutation_p.R64*|RTN4RL2_ENST00000335099.3_Nonsense_Mutation_p.R64*					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGCACTCAGCGACTCTTCCT	0.622																																						ENST00000335099.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(190-192)Cga>Tga		reticulon 4 receptor-like 2							172.0	151.0	158.0					11																	57235240		2201	4296	6497	SO:0001587	stop_gained	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235240C>T	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.190C>T	11.37:g.57235240C>T	ENSP00000435606:p.Arg64*					RTN4RL2_ENST00000395120.2_Nonsense_Mutation_p.R64*|RTN4RL2_ENST00000533205.1_Nonsense_Mutation_p.R64*	p.R64*	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			2	507	+			64						Nonsense_Mutation	SNP	ENST00000533205.1	37	c.190C>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.277789	0.80692	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	.	.	.	4.96	4.04	0.47022	.	0.000000	0.35615	N	0.003095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6699	0.56862	0.2984:0.7016:0.0:0.0	.	.	.	.	X	64	.	ENSP00000335397:R64X	R	+	1	2	RTN4RL2	56991816	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.451000	0.35145	1.200000	0.43188	0.561000	0.74099	CGA		0.622	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		40	60	0	0	0	1	0	40	60				
ADAMTS14	140766	broad.mit.edu	37	10	72511319	72511319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72511319G>A	ENST00000373207.1	+	17	2513	c.2513G>A	c.(2512-2514)aGc>aAc	p.S838N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.S841N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	838	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTATCGGGAGCAACAATGTG	0.637																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2521-2523)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							65.0	64.0	65.0					10																	72511319		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511319G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2513G>A	10.37:g.72511319G>A	ENSP00000362303:p.Ser838Asn					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S838N	p.S841N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			17	2522	+			838			Spacer.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2522G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	4.287	0.052529	0.08291	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.62232	0.04;0.07	4.38	2.44	0.29823	.	0.053233	0.64402	D	0.000001	T	0.27384	0.0672	N	0.01431	-0.87	0.36005	D	0.837639	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.002	T	0.11567	-1.0582	10	0.15499	T	0.54	.	6.3009	0.21111	0.4089:0.0:0.5911:0.0	.	838;841	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	N	841;838	ENSP00000362304:S841N;ENSP00000362303:S838N	ENSP00000362303:S838N	S	+	2	0	ADAMTS14	72181325	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.773000	0.62331	1.046000	0.40249	0.563000	0.77884	AGC		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		29	42	0	0	0	1	0	29	42				
DSG2	1829	broad.mit.edu	37	18	29111089	29111089	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29111089G>A	ENST00000261590.8	+	9	1363	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	385	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTGAAAGAAGGCATTCATTTT	0.368																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1153-1155)gGc>gAc		desmoglein 2							164.0	149.0	154.0					18																	29111089		1883	4105	5988	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29111089G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1154G>A	18.37:g.29111089G>A	ENSP00000261590:p.Gly385Asp						p.G385D	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		9	1363	+			385			Cadherin 3.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1154G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943027	0.73672	.	.	ENSG00000046604	ENST00000261590	T	0.60797	0.16	5.02	5.02	0.67125	Cadherin (2);	0.000000	0.64402	D	0.000014	T	0.70587	0.3241	M	0.87827	2.91	0.80722	D	1	D	0.56521	0.976	P	0.52267	0.694	T	0.76537	-0.2923	10	0.72032	D	0.01	.	11.9195	0.52783	0.0792:0.0:0.9208:0.0	.	385	Q14126	DSG2_HUMAN	D	385	ENSP00000261590:G385D	ENSP00000261590:G385D	G	+	2	0	DSG2	27365087	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.324000	0.59228	2.606000	0.88127	0.491000	0.48974	GGC		0.368	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		4	96	0	0	0	1	0	4	96				
TMCC1	23023	broad.mit.edu	37	3	129389445	129389445	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389445A>G	ENST00000393238.3	-	4	1579	c.1239T>C	c.(1237-1239)tcT>tcC	p.S413S	TMCC1_ENST00000432054.2_Silent_p.S89S|TMCC1_ENST00000329333.5_Silent_p.S234S|TMCC1_ENST00000426664.2_Silent_p.S299S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	413						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATTTTGGGCTAGACTGAAAGT	0.512																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1237-1239)tcT>tcC		transmembrane and coiled-coil domain family 1							105.0	98.0	101.0					3																	129389445		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129389445A>G	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1239T>C	3.37:g.129389445A>G						TMCC1_ENST00000329333.5_Silent_p.S234S|TMCC1_ENST00000426664.2_Silent_p.S299S|TMCC1_ENST00000432054.2_Silent_p.S89S	p.S413S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1579	-			413					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1239T>C	CCDS33855.1																																																																																				0.512	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		8	64	0	0	0	1	0	8	64				
TNFRSF10B	8795	broad.mit.edu	37	8	22900721	22900721	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22900721G>A	ENST00000276431.4	-	2	464	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000347739.3_Silent_p.D60D|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	60					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGAGCTAGGTCTTGTTGGG	0.572																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(178-180)gaC>gaT		tumor necrosis factor receptor superfamily, member 10b							130.0	109.0	116.0					8																	22900721		2203	4300	6503	SO:0001819	synonymous_variant	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22900721G>A	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.180C>T	8.37:g.22900721G>A						TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000347739.3_Silent_p.D60D	p.D60D	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	2	464	-		Prostate(55;0.0421)|Breast(100;0.067)	60					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Silent	SNP	ENST00000276431.4	37	c.180C>T	CCDS6035.1																																																																																				0.572	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		12	20	0	0	0	1	0	12	20				
MCTP2	55784	broad.mit.edu	37	15	94942270	94942270	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94942270G>A	ENST00000357742.4	+	14	1869	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E	MCTP2_ENST00000557742.1_Silent_p.E211E|MCTP2_ENST00000451018.3_Silent_p.E623E|MCTP2_ENST00000331706.4_Silent_p.E211E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	623					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTACTTAGAGATGGACCTTA	0.373																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1867-1869)gaG>gaA		multiple C2 domains, transmembrane 2							77.0	81.0	80.0					15																	94942270		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94942270G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1869G>A	15.37:g.94942270G>A						MCTP2_ENST00000331706.4_Silent_p.E211E|MCTP2_ENST00000557742.1_Silent_p.E211E|MCTP2_ENST00000451018.3_Silent_p.E623E	p.E623E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		14	1869	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		623					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.1869G>A	CCDS32338.1																																																																																				0.373	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		17	25	0	0	0	1	0	17	25				
RIOK2	55781	broad.mit.edu	37	5	96514768	96514768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96514768G>T	ENST00000283109.3	-	2	264	c.196C>A	c.(196-198)Cgt>Agt	p.R66S	CTD-2215E18.1_ENST00000509481.1_Intron|RNU1-73P_ENST00000383971.1_RNA|RIOK2_ENST00000508447.1_Missense_Mutation_p.R66S	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	66							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTTTTGGTACGCTCCCAAGCT	0.393																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(196-198)Cgt>Agt		RIO kinase 2							93.0	92.0	93.0					5																	96514768		2202	4300	6502	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96514768G>T	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.196C>A	5.37:g.96514768G>T	ENSP00000283109:p.Arg66Ser					RIOK2_ENST00000508447.1_Missense_Mutation_p.R66S|CTD-2215E18.1_ENST00000509481.1_Intron	p.R66S	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	2	264	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	66					D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.196C>A	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.052567	0.75960	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.04654	3.69;3.58	5.73	3.95	0.45737	Winged helix-turn-helix transcription repressor DNA-binding (1);RIO2 kinase, winged helix, N-terminal (1);	0.054266	0.85682	D	0.000000	T	0.12860	0.0312	L	0.48362	1.52	0.80722	D	1	D;P	0.60575	0.988;0.895	D;P	0.64410	0.925;0.719	T	0.01172	-1.1429	10	0.54805	T	0.06	-6.4353	11.1657	0.48541	0.0673:0.0:0.8057:0.1269	.	66;66	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	S	66	ENSP00000283109:R66S;ENSP00000420932:R66S	ENSP00000283109:R66S	R	-	1	0	RIOK2	96540524	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.164000	0.71885	1.454000	0.47793	-0.122000	0.15005	CGT		0.393	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		9	33	1	0	1.76689e-08	1	2.11513e-08	9	33				
SLC17A8	246213	broad.mit.edu	37	12	100790181	100790181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100790181C>T	ENST00000323346.5	+	5	975	c.662C>T	c.(661-663)aCa>aTa	p.T221I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T221I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	221					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CGACTGGCCACAACCTCTTTT	0.458																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(661-663)aCa>aTa		solute carrier family 17 (vesicular glutamate transporter), member 8							67.0	69.0	69.0					12																	100790181		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100790181C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.662C>T	12.37:g.100790181C>T	ENSP00000316909:p.Thr221Ile					SLC17A8_ENST00000392989.3_Missense_Mutation_p.T221I	p.T221I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			5	975	+			221					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.662C>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352973	0.82132	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57907	0.37;0.37	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.096346	0.64402	D	0.000001	T	0.81973	0.4936	H	0.96333	3.805	0.80722	D	1	P;D	0.69078	0.931;0.997	D;D	0.75484	0.928;0.986	D	0.88109	0.2824	10	0.87932	D	0	.	18.7979	0.92003	0.0:1.0:0.0:0.0	.	221;221	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	221	ENSP00000316909:T221I;ENSP00000376715:T221I	ENSP00000316909:T221I	T	+	2	0	SLC17A8	99314312	1.000000	0.71417	0.968000	0.41197	0.908000	0.53690	7.715000	0.84713	2.499000	0.84300	0.561000	0.74099	ACA		0.458	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		16	34	0	0	0	1	0	16	34				
ABCA7	10347	broad.mit.edu	37	19	1046330	1046330	+	Missense_Mutation	SNP	G	G	A	rs377020137		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1046330G>A	ENST00000263094.6	+	13	1778	c.1547G>A	c.(1546-1548)cGc>cAc	p.R516H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R516H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R378H|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	516					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R516H(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCCGTCCGCGTGCTCAGC	0.692																																						ENST00000263094.6																			1	Substitution - Missense(1)	p.R516H(1)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1546-1548)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 7			HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	143.0	141.0		1547	3.8	0.1	19		141	0,8594		0,0,4297	no	missense	ABCA7	NM_019112.3	29	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	516/2147	1046330	1,12999	2203	4297	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046330G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1547G>A	19.37:g.1046330G>A	ENSP00000263094:p.Arg516His					ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.R516H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R378H	p.R516H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1778	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	516					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1547G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	16.66	3.184399	0.57800	2.27E-4	0.0	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.95307	-3.67;-3.67	4.85	3.81	0.43845	.	.	.	.	.	D	0.93242	0.7847	M	0.78049	2.395	0.09310	N	1	P;B	0.40909	0.732;0.243	B;B	0.37422	0.249;0.046	D	0.87192	0.2235	9	0.66056	D	0.02	.	10.6894	0.45862	0.0959:0.0:0.9041:0.0	.	378;516	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	H	516	ENSP00000263094:R516H;ENSP00000414062:R516H	ENSP00000263094:R516H	R	+	2	0	ABCA7	997330	0.045000	0.20229	0.102000	0.21198	0.929000	0.56500	2.266000	0.43320	1.028000	0.39785	0.556000	0.70494	CGC		0.692	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		21	242	0	0	0	1	0	21	242				
LPHN3	23284	broad.mit.edu	37	4	62845404	62845404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62845404C>T	ENST00000514591.1	+	17	3054	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	LPHN3_ENST00000507164.1_Missense_Mutation_p.R977C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R909C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R909C|LPHN3_ENST00000512091.2_Missense_Mutation_p.R909C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R977C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R909C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R977C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R977C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	896					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGAGTGACCGTAACACCAT	0.483																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2725-2727)Cgt>Tgt		latrophilin 3							197.0	199.0	199.0					4																	62845404		2071	4225	6296	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845404C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2725C>T	4.37:g.62845404C>T	ENSP00000422533:p.Arg909Cys					LPHN3_ENST00000504896.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R977C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R977C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R909C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R977C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R977C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R909C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R977C	p.R909C			Q9HAR2	LPHN3_HUMAN			17	3472	+			896					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2725C>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.088442|4.088442	0.76756|0.76756	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37058	.|1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.5|5.5	5.5|5.5	0.81552|0.81552	.|GPCR, family 2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74084|0.74084	0.3670|0.3670	H|H	0.98178|0.98178	4.165|4.165	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	D|D	0.83768|0.83768	0.0218|0.0218	5|10	.|0.87932	.|D	.|0	.|.	14.7184|14.7184	0.69286|0.69286	0.1455:0.8545:0.0:0.0|0.1455:0.8545:0.0:0.0	.|.	.|909;896;909	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	L|C	366|909;909;977;977;909;909;896;909;977;977;977;909;909;909;977;977;909	.|ENSP00000423388:R909C;ENSP00000422533:R909C;ENSP00000423787:R977C;ENSP00000425033:R977C;ENSP00000424120:R909C;ENSP00000439831:R909C;ENSP00000421476:R977C;ENSP00000424030:R977C;ENSP00000421372:R977C;ENSP00000425201:R909C;ENSP00000423434:R909C;ENSP00000421627:R909C;ENSP00000420931:R977C;ENSP00000425884:R977C;ENSP00000424258:R909C	.|ENSP00000280009:R909C	P|R	+|+	2|1	0|0	LPHN3|LPHN3	62527999|62527999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.850000|3.850000	0.55918|0.55918	2.580000|2.580000	0.87095|0.87095	0.467000|0.467000	0.42956|0.42956	CCG|CGT		0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			66	125	0	0	0	1	0	66	125				
NFX1	4799	broad.mit.edu	37	9	33295380	33295380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33295380C>T	ENST00000379540.3	+	2	1050	c.988C>T	c.(988-990)Cga>Tga	p.R330*	NFX1_ENST00000318524.6_Nonsense_Mutation_p.R330*|NFX1_ENST00000379521.4_Nonsense_Mutation_p.R330*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	330					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCCTTTCTCCCGAGGCAAACA	0.408																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(988-990)Cga>Tga		nuclear transcription factor, X-box binding 1							77.0	72.0	74.0					9																	33295380		2203	4300	6503	SO:0001587	stop_gained	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33295380C>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.988C>T	9.37:g.33295380C>T	ENSP00000368856:p.Arg330*					NFX1_ENST00000379521.4_Nonsense_Mutation_p.R330*|NFX1_ENST00000318524.6_Nonsense_Mutation_p.R330*	p.R330*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	2	1050	+			330					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Nonsense_Mutation	SNP	ENST00000379540.3	37	c.988C>T	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341067	0.95783	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	.	.	.	5.91	-0.233	0.13078	.	0.187425	0.43416	D	0.000578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5905	0.28019	0.5627:0.3452:0.0:0.0921	.	.	.	.	X	330	.	ENSP00000317695:R330X	R	+	1	2	NFX1	33285380	0.667000	0.27484	0.797000	0.32132	0.938000	0.57974	0.490000	0.22403	-0.159000	0.11021	-0.852000	0.03032	CGA		0.408	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			13	33	0	0	0	1	0	13	33				
PRADC1	84279	broad.mit.edu	37	2	73456648	73456648	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73456648G>T	ENST00000258083.2	-	3	286	c.219C>A	c.(217-219)gcC>gcA	p.A73A	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	73						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						GTTCCCCGCAGGCCTCTGGAG	0.537																																						ENST00000258083.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(217-219)gcC>gcA		protease-associated domain containing 1							102.0	102.0	102.0					2																	73456648		2203	4300	6503	SO:0001819	synonymous_variant	84279					extracellular region		g.chr2:73456648G>T	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.219C>A	2.37:g.73456648G>T						PRADC1_ENST00000480093.1_5'UTR	p.A73A	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN			3	286	-			73					Q2Z1P2	Silent	SNP	ENST00000258083.2	37	c.219C>A	CCDS1924.1																																																																																				0.537	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		5	91	1	0	0.184627	1	0.186383	5	91				
GPR128	84873	broad.mit.edu	37	3	100365530	100365530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365530T>C	ENST00000273352.3	+	10	1496	c.1228T>C	c.(1228-1230)Tgc>Cgc	p.C410R	GPR128_ENST00000475887.1_Missense_Mutation_p.C115R|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	410	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTCCTGCGCTGCCGCTGCAA	0.408																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1228-1230)Tgc>Cgc		G protein-coupled receptor 128							88.0	90.0	89.0					3																	100365530		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365530T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1228T>C	3.37:g.100365530T>C	ENSP00000273352:p.Cys410Arg					GPR128_ENST00000475887.1_Missense_Mutation_p.C115R	p.C410R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1496	+			410			GPS.		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1228T>C	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666404	0.47677	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	D;D	0.87029	-2.2;-2.2	5.32	5.32	0.75619	GPS domain (3);	0.000000	0.64402	D	0.000005	D	0.96291	0.8790	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97512	1.0067	10	0.87932	D	0	.	12.9523	0.58407	0.0:0.0:0.0:1.0	.	115;410	E9PHI0;Q96K78	.;GP128_HUMAN	R	410;115	ENSP00000273352:C410R;ENSP00000419788:C115R	ENSP00000273352:C410R	C	+	1	0	GPR128	101848220	0.999000	0.42202	0.561000	0.28357	0.257000	0.26127	3.763000	0.55257	2.122000	0.65172	0.533000	0.62120	TGC		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			11	46	0	0	0	1	0	11	46				
WNK3	65267	broad.mit.edu	37	X	54319604	54319604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54319604G>A	ENST00000375159.2	-	8	1849	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F	WNK3_ENST00000354646.2_Missense_Mutation_p.S617F|WNK3_ENST00000375169.3_Missense_Mutation_p.S617F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	617					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAGTTGCTGAGATGAATAAAT	0.383																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1849-1851)tCt>tTt		WNK lysine deficient protein kinase 3							72.0	62.0	65.0					X																	54319604		2202	4300	6502	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54319604G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1850C>T	X.37:g.54319604G>A	ENSP00000364301:p.Ser617Phe					WNK3_ENST00000375159.2_Missense_Mutation_p.S617F|WNK3_ENST00000375169.3_Missense_Mutation_p.S617F	p.S617F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			9	2288	-			617					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1850C>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268534	0.59540	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71934	-0.58;-0.61;-0.61	5.6	5.6	0.85130	.	0.357463	0.24265	N	0.040059	T	0.68933	0.3055	L	0.32530	0.975	0.36647	D	0.877167	P;P	0.43973	0.492;0.823	B;P	0.46758	0.154;0.526	T	0.75088	-0.3441	10	0.49607	T	0.09	-0.5425	17.3192	0.87232	0.0:0.0:1.0:0.0	.	617;617	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	617	ENSP00000364312:S617F;ENSP00000346667:S617F;ENSP00000364301:S617F	ENSP00000346667:S617F	S	-	2	0	WNK3	54336329	1.000000	0.71417	0.982000	0.44146	0.512000	0.34134	5.220000	0.65267	2.357000	0.79964	0.594000	0.82650	TCT		0.383	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		6	16	0	0	0	1	0	6	16				
CLDN2	9075	broad.mit.edu	37	X	106171742	106171742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171742G>A	ENST00000541806.1	+	2	803	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	CLDN2_ENST00000336803.1_Missense_Mutation_p.C95Y|CLDN2_ENST00000540876.1_Missense_Mutation_p.C95Y	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	95					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCCTGGCCTGCATTATCTCT	0.562																																						ENST00000541806.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(283-285)tGc>tAc		claudin 2							129.0	104.0	112.0					X																	106171742		2203	4300	6503	SO:0001583	missense	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171742G>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.284G>A	X.37:g.106171742G>A	ENSP00000441283:p.Cys95Tyr					CLDN2_ENST00000336803.1_Missense_Mutation_p.C95Y|CLDN2_ENST00000540876.1_Missense_Mutation_p.C95Y	p.C95Y	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN			2	803	+			95					B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.284G>A	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125292	0.56721	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.88354	-2.37;-2.37;-2.37	5.46	5.46	0.80206	.	0.203423	0.51477	D	0.000093	D	0.92319	0.7563	L	0.53249	1.67	0.51012	D	0.999902	D	0.69078	0.997	D	0.67103	0.949	D	0.91897	0.5528	10	0.42905	T	0.14	.	15.6452	0.77042	0.0:0.0:1.0:0.0	.	95	P57739	CLD2_HUMAN	Y	95	ENSP00000441283:C95Y;ENSP00000443230:C95Y;ENSP00000336571:C95Y	ENSP00000336571:C95Y	C	+	2	0	CLDN2	106058398	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.403000	0.52615	2.291000	0.77112	0.523000	0.50628	TGC		0.562	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			12	89	0	0	0	1	0	12	89				
ADAMTSL1	92949	broad.mit.edu	37	9	18777290	18777290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777290C>T	ENST00000380548.4	+	19	3402	c.3063C>T	c.(3061-3063)taC>taT	p.Y1021Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1021						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGCCGCTACGACGACCTCG	0.692																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3061-3063)taC>taT		ADAMTS-like 1							7.0	10.0	9.0					9																	18777290		1811	3963	5774	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777290C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3063C>T	9.37:g.18777290C>T							p.Y1021Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3402	+			1021					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.3063C>T	CCDS47954.1																																																																																				0.692	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			6	2	0	0	0	1	0	6	2				
MAGI3	260425	broad.mit.edu	37	1	114226160	114226160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114226160G>A	ENST00000307546.9	+	21	4045	c.3970G>A	c.(3970-3972)Gct>Act	p.A1324T	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1349					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAGTAATGCTGAGCAGAT	0.423																																						ENST00000307546.9																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3970-3972)Gct>Act		membrane associated guanylate kinase, WW and PDZ domain containing 3							136.0	122.0	127.0					1																	114226160		1568	3582	5150	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226160G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3970G>A	1.37:g.114226160G>A	ENSP00000304604:p.Ala1324Thr					MAGI3_ENST00000369615.1_3'UTR	p.A1324T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4045	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1349					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3970G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562911	0.27915	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.52983	0.64	5.96	0.655	0.17839	.	0.602191	0.16032	N	0.232816	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.37596	-0.9699	10	0.13470	T	0.59	-1.366	6.033	0.19690	0.3107:0.2314:0.4579:0.0	.	1324	Q5TCQ9-4	.	T	1324;364	ENSP00000304604:A1324T	ENSP00000304604:A1324T	A	+	1	0	MAGI3	114027683	0.000000	0.05858	0.025000	0.17156	0.011000	0.07611	0.013000	0.13310	0.419000	0.25927	0.650000	0.86243	GCT		0.423	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		26	45	0	0	0	1	0	26	45				
PTGFRN	5738	broad.mit.edu	37	1	117509948	117509948	+	Silent	SNP	C	C	A	rs151131304		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509948C>A	ENST00000393203.2	+	6	2202	c.2055C>A	c.(2053-2055)acC>acA	p.T685T	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	685					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTTCCAAACCTCAGGTGAGC	0.488																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2053-2055)acC>acA		prostaglandin F2 receptor inhibitor							41.0	42.0	41.0					1																	117509948		2203	4299	6502	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117509948C>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2055C>A	1.37:g.117509948C>A						PTGFRN_ENST00000496699.1_3'UTR	p.T685T	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	6	2202	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	685					Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.2055C>A	CCDS890.1																																																																																				0.488	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		4	37	1	0	0.00909568	1	0.00947522	4	37				
KRT7	3855	broad.mit.edu	37	12	52635320	52635320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52635320G>A	ENST00000331817.5	+	5	941	c.758G>A	c.(757-759)cGc>cAc	p.R253H		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	253	Linker 12.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GACAACAGTCGCTCCCTGGAC	0.587																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(757-759)cGc>cAc		keratin 7							97.0	83.0	88.0					12																	52635320		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52635320G>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.758G>A	12.37:g.52635320G>A	ENSP00000329243:p.Arg253His						p.R253H	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	5	941	+			253			Linker 12.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.758G>A	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130879	0.77549	.	.	ENSG00000135480	ENST00000331817;ENST00000422319;ENST00000551537	T	0.78595	-1.19	4.88	4.88	0.63580	Prefoldin (1);Filament (1);	0.000000	0.38326	N	0.001737	D	0.82939	0.5146	M	0.75884	2.315	0.80722	D	1	B;P	0.51449	0.051;0.945	B;P	0.48921	0.046;0.595	D	0.85985	0.1485	10	0.87932	D	0	.	18.5827	0.91177	0.0:0.0:1.0:0.0	.	253;253	F8VZY5;P08729	.;K2C7_HUMAN	H	253;229;253	ENSP00000329243:R253H	ENSP00000329243:R253H	R	+	2	0	KRT7	50921587	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.597000	0.98273	2.681000	0.91329	0.655000	0.94253	CGC		0.587	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		17	39	0	0	0	1	0	17	39				
PLXNA1	5361	broad.mit.edu	37	3	126739187	126739187	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126739187G>T	ENST00000393409.2	+	20	4038	c.4038G>T	c.(4036-4038)gaG>gaT	p.E1346D	PLXNA1_ENST00000251772.4_Splice_Site_p.E1323D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1346					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGAGATGGAGGTAGGACCAC	0.602																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.e20+1		plexin A1							62.0	52.0	55.0					3																	126739187		2202	4300	6502	SO:0001630	splice_region_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126739187G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4038+1G>T	3.37:g.126739187G>T						PLXNA1_ENST00000393409.2_Splice_Site_p.E1346_splice	p.E1323_splice			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	20	4038	+			1346						Splice_Site	SNP	ENST00000393409.2	37	c.3969_splice	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555360	0.45487	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11930	2.73;2.73	3.96	3.96	0.45880	Plexin, cytoplasmic RasGAP domain (1);	1.205020	0.06240	N	0.690169	T	0.11196	0.0273	N	0.12831	0.26	0.80722	D	1	B	0.14438	0.01	B	0.20184	0.028	T	0.14062	-1.0486	10	0.20519	T	0.43	.	16.5547	0.84482	0.0:0.0:1.0:0.0	.	1346	Q9UIW2	PLXA1_HUMAN	D	1346;1323	ENSP00000377061:E1346D;ENSP00000251772:E1323D	ENSP00000251772:E1323D	E	+	3	2	PLXNA1	128221877	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.433000	0.73404	2.187000	0.69744	0.585000	0.79938	GAG		0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	Missense_Mutation	6	24	1	0	5.9392e-07	1	6.91975e-07	6	24				
C2CD2	25966	broad.mit.edu	37	21	43309427	43309427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43309427G>A	ENST00000380486.3	-	14	2138	c.1897C>T	c.(1897-1899)Ctg>Ttg	p.L633L	C2CD2_ENST00000329623.7_Silent_p.L478L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	633						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGGAAGAACAGCTTTGCACCT	0.557																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(1897-1899)Ctg>Ttg		C2 calcium-dependent domain containing 2							67.0	60.0	62.0					21																	43309427		2203	4300	6503	SO:0001819	synonymous_variant	25966					cytosol|extracellular region|nucleus		g.chr21:43309427G>A	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1897C>T	21.37:g.43309427G>A						C2CD2_ENST00000329623.7_Silent_p.L478L	p.L633L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			14	2138	-			633					Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	c.1897C>T	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	G	7.852	0.724279	0.15439	.	.	ENSG00000157617	ENST00000449165	.	.	.	4.86	2.94	0.34122	.	.	.	.	.	T	0.56630	0.1998	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52503	-0.8567	4	.	.	.	-24.6676	8.079	0.30733	0.1513:0.1322:0.7165:0.0	.	.	.	.	V	118	.	.	A	-	2	0	C2CD2	42182496	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.260000	0.58835	1.195000	0.43115	0.655000	0.94253	GCT		0.557	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		14	23	0	0	0	1	0	14	23				
SART1	9092	broad.mit.edu	37	11	65734851	65734851	+	Missense_Mutation	SNP	C	C	A	rs200286107		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65734851C>A	ENST00000312397.5	+	10	1402	c.1310C>A	c.(1309-1311)tCc>tAc	p.S437Y		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	437					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACTTTGGTTCCAGGTGGGCT	0.632																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1309-1311)tCc>tAc		squamous cell carcinoma antigen recognized by T cells							125.0	134.0	131.0					11																	65734851		2201	4296	6497	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65734851C>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1310C>A	11.37:g.65734851C>A	ENSP00000310448:p.Ser437Tyr						p.S437Y	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN			10	1402	+			437					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1310C>A	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289580	0.80914	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.25085	1.82	5.26	4.34	0.51931	.	0.069298	0.64402	D	0.000013	T	0.54415	0.1857	M	0.88979	2.995	0.80722	D	1	D	0.56287	0.975	D	0.64321	0.924	T	0.64089	-0.6489	10	0.87932	D	0	-24.0395	13.5061	0.61485	0.0:0.8417:0.1583:0.0	.	437	O43290	SNUT1_HUMAN	Y	437;279	ENSP00000310448:S437Y	ENSP00000310448:S437Y	S	+	2	0	SART1	65491427	1.000000	0.71417	0.899000	0.35326	0.860000	0.49131	5.131000	0.64751	1.191000	0.43056	0.491000	0.48974	TCC		0.632	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			58	101	1	0	2.3441e-25	1	3.11641e-25	58	101				
ETNK2	55224	broad.mit.edu	37	1	204115784	204115784	+	Silent	SNP	G	G	A	rs143999368		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204115784G>A	ENST00000367202.4	-	3	777	c.627C>T	c.(625-627)aaC>aaT	p.N209N	ETNK2_ENST00000367198.2_Silent_p.N31N|ETNK2_ENST00000367201.3_Silent_p.N209N|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	209					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTTGATCTCGTTCTTCACAA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21428	0.0		0.0	False		,,,				2504	0.0					ENST00000367202.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(625-627)aaC>aaT		ethanolamine kinase 2							193.0	166.0	175.0					1																	204115784		2203	4300	6503	SO:0001819	synonymous_variant	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204115784G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.627C>T	1.37:g.204115784G>A						ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Silent_p.N31N|ETNK2_ENST00000367201.3_Silent_p.N209N	p.N209N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	777	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		209					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Silent	SNP	ENST00000367202.4	37	c.627C>T	CCDS1442.2																																																																																				0.517	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		8	115	0	0	0	1	0	8	115				
SYNE1	23345	broad.mit.edu	37	6	152589210	152589210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152589210C>A	ENST00000367255.5	-	100	19397	c.18796G>T	c.(18796-18798)Gag>Tag	p.E6266*	SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E790*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6266*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E5878*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6195*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6195*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6266					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGAGGTCTCTGCCGCCGAA	0.438										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18796-18798)Gag>Tag		spectrin repeat containing, nuclear envelope 1							101.0	98.0	99.0					6																	152589210		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152589210C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18796G>T	6.37:g.152589210C>A	ENSP00000356224:p.Glu6266*	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E5878*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6266*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6195*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E790*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6195*	p.E6266*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	100	19397	-		Ovarian(120;0.0955)	6266					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.18796G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	41	8.548425	0.98859	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.74	5.74	0.90152	.	0.091890	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	6266;6195;6266;6195;5878;790	.	ENSP00000265368:E6266X	E	-	1	0	SYNE1	152630903	0.995000	0.38212	0.981000	0.43875	0.207000	0.24258	4.989000	0.63870	2.873000	0.98535	0.563000	0.77884	GAG		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	23	1	0	1.96895e-08	1	2.35655e-08	23	23				
ST13	6767	broad.mit.edu	37	22	41231579	41231579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231579C>T	ENST00000216218.3	-	7	1044	c.563G>A	c.(562-564)cGg>cAg	p.R188Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	188					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TGCTTTCCCCCGCCACTTGTA	0.358																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(562-564)cGg>cAg		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							110.0	121.0	118.0					22																	41231579		2191	4286	6477	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41231579C>T		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.563G>A	22.37:g.41231579C>T	ENSP00000216218:p.Arg188Gln						p.R188Q	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			7	1044	-			188					O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.563G>A	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608551	0.87258	.	.	ENSG00000100380	ENST00000216218;ENST00000401032;ENST00000411695	D;T	0.89552	-2.53;1.33	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096480	0.64402	N	0.000001	D	0.96150	0.8745	M	0.93283	3.4	0.52099	D	0.999942	D;D	0.76494	0.999;0.999	P;D	0.80764	0.842;0.994	D	0.96494	0.9366	10	0.62326	D	0.03	.	19.3461	0.94363	0.0:1.0:0.0:0.0	.	178;188	B4E0U6;P50502	.;F10A1_HUMAN	Q	188;188;151	ENSP00000216218:R188Q;ENSP00000392067:R151Q	ENSP00000216218:R188Q	R	-	2	0	ST13	39561525	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.819000	0.75262	2.693000	0.91896	0.650000	0.86243	CGG		0.358	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		24	195	0	0	0	1	0	24	195				
TAF1A	9015	broad.mit.edu	37	1	222757525	222757525	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222757525C>A	ENST00000352967.4	-	3	424	c.236G>T	c.(235-237)aGt>aTt	p.S79I	TAF1A_ENST00000350027.4_Missense_Mutation_p.S79I|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000543857.1_Missense_Mutation_p.S79I|TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000465263.1_5'UTR	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	79					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CTGAAAATAACTGTACATGTA	0.408																																						ENST00000350027.4																			0				kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18						c.(235-237)aGt>aTt		TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa							158.0	152.0	154.0					1																	222757525		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222757525C>A	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.236G>T	1.37:g.222757525C>A	ENSP00000327072:p.Ser79Ile					TAF1A_ENST00000543857.1_Missense_Mutation_p.S79I|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000352967.4_Missense_Mutation_p.S79I	p.S79I	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	3	389	-			79					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.236G>T	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618248	0.66787	.	.	ENSG00000143498	ENST00000350027;ENST00000352967;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.81	4.9	0.64082	.	0.260251	0.51477	D	0.000099	T	0.63082	0.2481	M	0.71581	2.175	0.40749	D	0.982903	D;D	0.63046	0.992;0.97	P;P	0.62813	0.907;0.714	T	0.66340	-0.5948	10	0.66056	D	0.02	-17.4166	11.4576	0.50191	0.0:0.9164:0.0:0.0836	.	79;79	B4DS21;Q15573	.;TAF1A_HUMAN	I	79	ENSP00000339976:S79I;ENSP00000327072:S79I;ENSP00000375755:S79I;ENSP00000437725:S79I	ENSP00000339976:S79I	S	-	2	0	TAF1A	220824148	0.992000	0.36948	0.987000	0.45799	0.981000	0.71138	0.986000	0.29590	2.741000	0.93983	0.655000	0.94253	AGT		0.408	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		8	185	1	0	0.000274275	1	0.000298791	8	185				
CLCN1	1180	broad.mit.edu	37	7	143039110	143039110	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143039110G>A	ENST00000343257.2	+	15	1758	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	557					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCACATCCTGCCCATGATGG	0.537																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1669-1671)ctG>ctA		chloride channel, voltage-sensitive 1							171.0	130.0	144.0					7																	143039110		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143039110G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1671G>A	7.37:g.143039110G>A							p.L557L	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			15	1758	+	Melanoma(164;0.205)		557					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.1671G>A	CCDS5881.1																																																																																				0.537	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		23	70	0	0	0	1	0	23	70				
STON2	85439	broad.mit.edu	37	14	81737106	81737106	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81737106A>T	ENST00000267540.2	-	5	2721	c.2521T>A	c.(2521-2523)Tct>Act	p.S841T	STON2_ENST00000555447.1_Missense_Mutation_p.S841T	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	841	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGGAGGCAGAAGTTGTGGGC	0.502																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2521-2523)Tct>Act		stonin 2							179.0	157.0	164.0					14																	81737106		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81737106A>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2521T>A	14.37:g.81737106A>T	ENSP00000267540:p.Ser841Thr					STON2_ENST00000267540.2_Missense_Mutation_p.S841T	p.S841T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	7	2933	-			841			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2521T>A	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808246	0.50421	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.16597	2.33;2.33	5.79	5.79	0.91817	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	N	0.04043	-0.29	0.44798	D	0.997803	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.991	T	0.09100	-1.0690	10	0.02654	T	1	-19.8269	16.1328	0.81454	1.0:0.0:0.0:0.0	.	841;841	Q8WXE9;G3V2T7	STON2_HUMAN;.	T	841;853;841	ENSP00000450857:S841T;ENSP00000267540:S841T	ENSP00000267540:S841T	S	-	1	0	STON2	80806859	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.134000	0.64770	2.208000	0.71279	0.533000	0.62120	TCT		0.502	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		39	89	0	0	0	1	0	39	89				
PCNXL2	80003	broad.mit.edu	37	1	233394057	233394057	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394057C>T	ENST00000258229.9	-	5	1785	c.1551G>A	c.(1549-1551)tcG>tcA	p.S517S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	517						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTTACAAGACGATGGGTCAA	0.522																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1549-1551)tcG>tcA		pecanex-like 2 (Drosophila)							72.0	74.0	74.0					1																	233394057		2063	4205	6268	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233394057C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1551G>A	1.37:g.233394057C>T						PCNXL2_ENST00000430153.1_5'UTR	p.S517S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	1785	-		all_cancers(173;0.0347)|Prostate(94;0.137)	517					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.1551G>A	CCDS44335.1																																																																																				0.522	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		26	34	0	0	0	1	0	26	34				
CRBN	51185	broad.mit.edu	37	3	3214594	3214594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3214594C>A	ENST00000231948.4	-	4	415	c.393G>T	c.(391-393)agG>agT	p.R131S	CRBN_ENST00000432408.2_Missense_Mutation_p.R130S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	131	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ACTGTGCTTCCCTTTCCTGTA	0.338																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(391-393)agG>agT		cereblon							134.0	133.0	133.0					3																	3214594		2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3214594C>A	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.393G>T	3.37:g.3214594C>A	ENSP00000231948:p.Arg131Ser					CRBN_ENST00000432408.2_Missense_Mutation_p.R130S	p.R131S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	4	415	-			131			Lon.		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.393G>T	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.726|8.726	0.915421|0.915421	0.17907|0.17907	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000424814;ENST00000450014|ENST00000231948;ENST00000432408;ENST00000546075	.|T;T	.|0.39787	.|1.06;1.06	5.68|5.68	2.6|2.6	0.31112|0.31112	.|Peptidase S16, lon N-terminal (2);PUA-like domain (1);	.|0.136130	.|0.64402	.|D	.|0.000003	T|T	0.22437|0.22437	0.0541|0.0541	N|N	0.19112|0.19112	0.55|0.55	0.44771|0.44771	D|D	0.997779|0.997779	.|B;B;B	.|0.17268	.|0.002;0.017;0.021	.|B;B;B	.|0.18871	.|0.002;0.013;0.023	T|T	0.07520|0.07520	-1.0768|-1.0768	5|10	.|0.08381	.|T	.|0.77	-23.2229|-23.2229	8.2712|8.2712	0.31844|0.31844	0.0:0.6692:0.0:0.3308|0.0:0.6692:0.0:0.3308	.|.	.|68;130;131	.|F5H3U1;Q96SW2-2;Q96SW2	.|.;.;CRBN_HUMAN	V|S	127|131;130;68	.|ENSP00000231948:R131S;ENSP00000412499:R130S	.|ENSP00000231948:R131S	G|R	-|-	2|3	0|2	CRBN|CRBN	3189594|3189594	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.293000|0.293000	0.19029|0.19029	0.210000|0.210000	0.20664|0.20664	0.591000|0.591000	0.81541|0.81541	GGG|AGG		0.338	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		33	86	1	0	1.62565e-12	1	2.04655e-12	33	86				
UBIAD1	29914	broad.mit.edu	37	1	11333834	11333834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11333834G>A	ENST00000376810.5	+	1	572	c.246G>A	c.(244-246)agG>agA	p.R82R	UBIAD1_ENST00000376804.2_Silent_p.R82R	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	82					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGGATCCCAGGCTCTTGGTGG	0.587																																						ENST00000376810.5																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(244-246)agG>agA		UbiA prenyltransferase domain containing 1							114.0	107.0	109.0					1																	11333834		2203	4300	6503	SO:0001819	synonymous_variant	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11333834G>A		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.246G>A	1.37:g.11333834G>A						UBIAD1_ENST00000376804.2_Silent_p.R82R	p.R82R	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	1	572	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	82					B3KQG3|Q53GX3|Q5THD4	Silent	SNP	ENST00000376810.5	37	c.246G>A	CCDS129.1																																																																																				0.587	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		12	115	0	0	0	1	0	12	115				
CCDC64	92558	broad.mit.edu	37	12	120436392	120436392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120436392G>A	ENST00000397558.2	+	2	497	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	166					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGAAGGCCGAGTGTCAGAG	0.488																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(496-498)cGa>cAa		coiled-coil domain containing 64							75.0	82.0	80.0					12																	120436392		2025	4184	6209	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120436392G>A	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.497G>A	12.37:g.120436392G>A	ENSP00000380690:p.Arg166Gln						p.R166Q	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			2	497	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		166					A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.497G>A	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465553	0.84425	.	.	ENSG00000135127	ENST00000357093;ENST00000397558	D	0.82081	-1.57	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.78188	0.4244	L	0.49571	1.57	0.80722	D	1	P	0.43662	0.814	B	0.34722	0.188	T	0.78573	-0.2152	10	0.33141	T	0.24	-4.2778	19.2587	0.93959	0.0:0.0:1.0:0.0	.	166	Q6ZP65	BICR1_HUMAN	Q	147;166	ENSP00000380690:R166Q	ENSP00000349605:R147Q	R	+	2	0	CCDC64	118920775	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.671000	0.83941	2.718000	0.92993	0.650000	0.86243	CGA		0.488	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		11	21	0	0	0	1	0	11	21				
HTR3C	170572	broad.mit.edu	37	3	183774687	183774687	+	Silent	SNP	C	C	T	rs140566773	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774687C>T	ENST00000318351.1	+	5	448	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	138					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGACGCCTTCCGGTCTCACTG	0.507																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(412-414)tcC>tcT		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic		C		2,4404		0,2,2201	152.0	133.0	139.0		414	-3.4	0.0	3	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	HTR3C	NM_130770.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		138/448	183774687	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183774687C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.414C>T	3.37:g.183774687C>T							p.S138S	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	448	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		138					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.414C>T	CCDS3250.1																																																																																				0.507	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		7	112	0	0	0	1	0	7	112				
OR5F1	338674	broad.mit.edu	37	11	55762081	55762081	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55762081G>T	ENST00000278409.1	-	1	20	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	7					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAGTCAGTGAGGTATAATTTT	0.308																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(19-21)acC>acA		olfactory receptor, family 5, subfamily F, member 1							46.0	49.0	48.0					11																	55762081		2200	4295	6495	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55762081G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.21C>A	11.37:g.55762081G>T							p.T7T	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	20	-	Esophageal squamous(21;0.00448)		7					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.21C>A	CCDS31515.1																																																																																				0.308	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		5	77	1	0	3.59834e-05	1	4.01776e-05	5	77				
ATP1B4	23439	broad.mit.edu	37	X	119500594	119500594	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119500594T>G	ENST00000218008.3	+	2	335	c.278T>G	c.(277-279)cTg>cGg	p.L93R	ATP1B4_ENST00000361319.3_Missense_Mutation_p.L93R|ATP1B4_ENST00000539306.1_Missense_Mutation_p.L93R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	93					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGTGAATACCTGTGGGATCCA	0.498																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(277-279)cTg>cGg		ATPase, Na+/K+ transporting, beta 4 polypeptide							105.0	88.0	93.0					X																	119500594		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119500594T>G	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.278T>G	X.37:g.119500594T>G	ENSP00000218008:p.Leu93Arg					ATP1B4_ENST00000539306.1_Missense_Mutation_p.L93R|ATP1B4_ENST00000361319.3_Missense_Mutation_p.L93R	p.L93R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			2	335	+			93					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.278T>G	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350628	0.61183	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.34472	1.36;1.36;1.49	5.36	5.36	0.76844	.	0.069483	0.64402	D	0.000011	T	0.64789	0.2630	M	0.86502	2.82	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.98;0.996;0.994	T	0.71873	-0.4461	10	0.87932	D	0	-25.0125	13.6524	0.62318	0.0:0.0:0.0:1.0	.	93;93;93	B7ZKW0;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	R	93	ENSP00000218008:L93R;ENSP00000355346:L93R;ENSP00000443334:L93R	ENSP00000218008:L93R	L	+	2	0	ATP1B4	119384622	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.685000	0.74543	1.888000	0.54679	0.477000	0.44152	CTG		0.498	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		23	23	0	0	0	1	0	23	23				
ABCA13	154664	broad.mit.edu	37	7	48684218	48684218	+	Missense_Mutation	SNP	G	G	T	rs375292474		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48684218G>T	ENST00000435803.1	+	61	14973	c.14949G>T	c.(14947-14949)caG>caT	p.Q4983H	ABCA13_ENST00000544596.1_Missense_Mutation_p.Q713H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4983					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAGGGACAGCACCTGAATT	0.279																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14947-14949)caG>caT		ATP-binding cassette, sub-family A (ABC1), member 13							41.0	40.0	40.0					7																	48684218		1806	4070	5876	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48684218G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14949G>T	7.37:g.48684218G>T	ENSP00000411096:p.Gln4983His					ABCA13_ENST00000544596.1_Missense_Mutation_p.Q713H	p.Q4983H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			61	14973	+			4983					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14949G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979989	0.53827	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.83419	-1.72;-1.72;-1.72	4.9	0.516	0.17019	.	0.000000	0.36893	N	0.002359	D	0.84056	0.5388	L	0.41027	1.25	0.33880	D	0.636043	P;D;D	0.89917	0.819;0.999;1.0	P;D;D	0.83275	0.464;0.991;0.996	D	0.84005	0.0345	10	0.49607	T	0.09	.	8.2703	0.31840	0.4864:0.0:0.5136:0.0	.	713;2685;4983	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	H	4983;756;713	ENSP00000411096:Q4983H;ENSP00000391042:Q756H;ENSP00000442634:Q713H	ENSP00000391042:Q756H	Q	+	3	2	ABCA13	48654764	0.996000	0.38824	0.998000	0.56505	0.879000	0.50718	0.793000	0.26944	0.099000	0.17552	0.650000	0.86243	CAG		0.279	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	10	1	0	2.31682e-05	1	2.60394e-05	15	10				
SMARCA4	6597	broad.mit.edu	37	19	11145688	11145688	+	Silent	SNP	C	C	T	rs575792225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11145688C>T	ENST00000429416.3	+	30	4331	c.4050C>T	c.(4048-4050)gaC>gaT	p.D1350D	SMARCA4_ENST00000413806.3_Silent_p.D1317D|SMARCA4_ENST00000590574.1_Silent_p.D1317D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Silent_p.D1317D|SMARCA4_ENST00000541122.2_Silent_p.D1317D|SMARCA4_ENST00000444061.3_Silent_p.D1317D|SMARCA4_ENST00000358026.2_Silent_p.D1350D|SMARCA4_ENST00000589677.1_Silent_p.D1317D|SMARCA4_ENST00000344626.4_Silent_p.D1350D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1350					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGGACGACGCGGAGG	0.667			"""F, N, Mis"""		NSCLC								c|||	1	0.000199681	0.0	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.001					ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4048-4050)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							48.0	37.0	41.0					19																	11145688		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11145688C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4050C>T	19.37:g.11145688C>T						SMARCA4_ENST00000590574.1_Silent_p.D1317D|SMARCA4_ENST00000413806.3_Silent_p.D1317D|SMARCA4_ENST00000344626.4_Silent_p.D1350D|SMARCA4_ENST00000541122.2_Silent_p.D1317D|SMARCA4_ENST00000589677.1_Silent_p.D1317D|SMARCA4_ENST00000429416.3_Silent_p.D1350D|SMARCA4_ENST00000444061.3_Silent_p.D1317D|SMARCA4_ENST00000450717.3_Silent_p.D1317D	p.D1350D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			29	4334	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1350					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4050C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	c	5.123	0.208322	0.09757	.	.	ENSG00000127616	ENST00000538456	.	.	.	4.59	-0.183	0.13284	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-46.7199	9.8569	0.41090	0.0:0.5741:0.0:0.4259	.	.	.	.	X	87	.	.	R	+	1	2	SMARCA4	11006688	0.027000	0.19231	0.948000	0.38648	0.432000	0.31715	-0.777000	0.04669	-0.042000	0.13535	-1.144000	0.01866	CGA		0.667	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		7	7	0	0	0	1	0	7	7				
SSBP2	23635	broad.mit.edu	37	5	80946145	80946145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80946145C>T	ENST00000320672.4	-	2	286	c.76G>A	c.(76-78)Gta>Ata	p.V26I	SSBP2_ENST00000515395.1_Missense_Mutation_p.V26I|SSBP2_ENST00000505980.1_Missense_Mutation_p.V26I|SSBP2_ENST00000514493.1_Missense_Mutation_p.V26I|SSBP2_ENST00000509053.1_Missense_Mutation_p.V26I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	26	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.V26I(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TATTCATATACGTAGAGTGCT	0.284																																						ENST00000320672.4																		SSBP2/JAK2(4)	1	Substitution - Missense(1)	p.V26I(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(76-78)Gta>Ata		single-stranded DNA binding protein 2							22.0	22.0	22.0					5																	80946145		2196	4264	6460	SO:0001583	missense	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80946145C>T	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.76G>A	5.37:g.80946145C>T	ENSP00000322977:p.Val26Ile					SSBP2_ENST00000509053.1_Missense_Mutation_p.V26I|SSBP2_ENST00000515395.1_Missense_Mutation_p.V26I|SSBP2_ENST00000505980.1_Missense_Mutation_p.V26I|SSBP2_ENST00000514493.1_Missense_Mutation_p.V26I	p.V26I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	2	286	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	26			LisH.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	c.76G>A	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349613	0.61183	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	5.3	5.3	0.74995	LisH dimerisation motif (2);	0.000000	0.64402	D	0.000001	T	0.71443	0.3340	M	0.61703	1.905	0.58432	D	0.999999	D;P;P;B;D	0.61080	0.989;0.885;0.71;0.366;0.966	P;B;B;B;P	0.52881	0.556;0.252;0.089;0.05;0.712	T	0.75193	-0.3404	9	0.87932	D	0	-4.2805	18.0991	0.89500	0.0:1.0:0.0:0.0	.	26;26;26;26;26	E9PDA8;E9PB74;B7Z1J2;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	I	26;26;26;26;26;22	.	ENSP00000322977:V26I	V	-	1	0	SSBP2	80981901	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.875000	0.75551	2.662000	0.90505	0.655000	0.94253	GTA		0.284	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		4	9	0	0	0	1	0	4	9				
PHKA1	5255	broad.mit.edu	37	X	71846867	71846867	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71846867G>T	ENST00000373542.4	-	17	1906	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	PHKA1_ENST00000373545.3_Missense_Mutation_p.L583M|PHKA1_ENST00000541944.1_Missense_Mutation_p.L583M|PHKA1_ENST00000373539.3_Missense_Mutation_p.L583M|PHKA1_ENST00000339490.3_Missense_Mutation_p.L583M	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	583					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGTGCTGCCAGGATACTTGAA	0.373																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1747-1749)Ctg>Atg		phosphorylase kinase, alpha 1 (muscle)							167.0	137.0	147.0					X																	71846867		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71846867G>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1747C>A	X.37:g.71846867G>T	ENSP00000362643:p.Leu583Met					PHKA1_ENST00000373542.4_Missense_Mutation_p.L583M|PHKA1_ENST00000373539.3_Missense_Mutation_p.L583M|PHKA1_ENST00000339490.3_Missense_Mutation_p.L583M|PHKA1_ENST00000541944.1_Missense_Mutation_p.L583M	p.L583M			P46020	KPB1_HUMAN			17	2185	-	Renal(35;0.156)		583					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.1747C>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045808	0.55110	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.93076	-3.11;-3.16;-3.1;-3.14;-3.14	5.09	2.31	0.28768	Glycoside hydrolase 15-related (1);	0.079635	0.53938	D	0.000055	D	0.96034	0.8708	M	0.85859	2.78	0.52099	D	0.999948	D;P;D	0.89917	1.0;0.938;0.998	D;P;D	0.97110	1.0;0.757;0.989	D	0.94002	0.7276	10	0.56958	D	0.05	-20.5909	8.4379	0.32797	0.2749:0.0:0.7251:0.0	.	583;583;583	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	M	583	ENSP00000362646:L583M;ENSP00000362643:L583M;ENSP00000441251:L583M;ENSP00000342469:L583M;ENSP00000362640:L583M	ENSP00000342469:L583M	L	-	1	2	PHKA1	71763592	0.476000	0.25901	0.998000	0.56505	0.880000	0.50808	0.728000	0.26013	0.045000	0.15804	0.422000	0.28245	CTG		0.373	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			46	94	1	0	1.46156e-29	1	1.95626e-29	46	94				
GLI3	2737	broad.mit.edu	37	7	42004149	42004149	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004149C>T	ENST00000395925.3	-	15	4606	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1508	Asp/Glu-rich (acidic).				anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTATGATGGCATCGAAGTCA	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(4522-4524)Gcc>Acc		GLI family zinc finger 3							128.0	109.0	115.0					7																	42004149		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004149C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4522G>A	7.37:g.42004149C>T	ENSP00000379258:p.Ala1508Thr					GLI3_ENST00000479210.1_5'UTR	p.A1508T	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	4606	-			1508			Asp/Glu-rich (acidic).		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.4522G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880509	0.91740	.	.	ENSG00000106571	ENST00000395925	T	0.23348	1.91	6.03	6.03	0.97812	.	0.048020	0.85682	D	0.000000	T	0.48370	0.1496	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.25467	-1.0131	10	0.56958	D	0.05	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1508	P10071	GLI3_HUMAN	T	1508	ENSP00000379258:A1508T	ENSP00000379258:A1508T	A	-	1	0	GLI3	41970674	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	4.607000	0.61133	2.861000	0.98227	0.655000	0.94253	GCC		0.552	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		30	33	0	0	0	1	0	30	33				
FGFBP2	83888	broad.mit.edu	37	4	15964500	15964500	+	Missense_Mutation	SNP	C	C	T	rs111244757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15964500C>T	ENST00000259989.6	-	1	359	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	85						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(253-255)Gct>Act		fibroblast growth factor binding protein 2							54.0	54.0	54.0					4																	15964500		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964500C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.253G>A	4.37:g.15964500C>T	ENSP00000259989:p.Ala85Thr					FGFBP2_ENST00000509331.1_Intron	p.A85T	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	359	-			85						Missense_Mutation	SNP	ENST00000259989.6	37	c.253G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.743909	0.00675	.	.	ENSG00000137441	ENST00000259989	T	0.13778	2.56	2.98	-1.37	0.09056	.	114.197000	0.00397	N	0.000044	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	10	0.10902	T	0.67	.	4.6434	0.12560	0.0:0.2269:0.3136:0.4596	.	85	Q9BYJ0	FGFP2_HUMAN	T	85	ENSP00000259989:A85T	ENSP00000259989:A85T	A	-	1	0	FGFBP2	15573598	0.223000	0.23663	0.000000	0.03702	0.007000	0.05969	0.337000	0.19841	-0.608000	0.05731	-0.127000	0.14921	GCT		0.622	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		15	22	0	0	0	1	0	15	22				
NCOR2	9612	broad.mit.edu	37	12	124886954	124886954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124886954G>T	ENST00000405201.1	-	14	1636	c.1636C>A	c.(1636-1638)Ctc>Atc	p.L546I	NCOR2_ENST00000404621.1_Missense_Mutation_p.L545I|NCOR2_ENST00000429285.2_Missense_Mutation_p.L545I|NCOR2_ENST00000356219.3_Missense_Mutation_p.L546I|NCOR2_ENST00000404121.2_Missense_Mutation_p.L116I|NCOR2_ENST00000397355.1_Missense_Mutation_p.L546I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	546					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTACTTGAGGAGGTCTTCC	0.637																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1636-1638)Ctc>Atc		nuclear receptor corepressor 2							108.0	131.0	123.0					12																	124886954		2130	4235	6365	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124886954G>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1636C>A	12.37:g.124886954G>T	ENSP00000384018:p.Leu546Ile					NCOR2_ENST00000404621.1_Missense_Mutation_p.L545I|NCOR2_ENST00000397355.1_Missense_Mutation_p.L546I|NCOR2_ENST00000429285.2_Missense_Mutation_p.L545I|NCOR2_ENST00000405201.1_Missense_Mutation_p.L546I|NCOR2_ENST00000404121.2_Missense_Mutation_p.L116I	p.L546I	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1791	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		546					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.1636C>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	g	6.857	0.527444	0.13066	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.29397	1.57;1.96;1.57;1.96;3.45;1.96;1.57	4.24	-6.29	0.02013	.	2.096710	0.03152	N	0.168124	T	0.09774	0.0240	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13229	-1.0517	10	0.24483	T	0.36	.	2.3424	0.04263	0.1231:0.3578:0.1292:0.3899	.	545;546;546	C9J0Q5;C9J239;C9JFD3	.;.;.	I	546;545;546;546;546;116;545;546	ENSP00000384018:L546I;ENSP00000384202:L545I;ENSP00000348551:L546I;ENSP00000380513:L546I;ENSP00000385618:L116I;ENSP00000400281:L545I;ENSP00000402808:L546I	ENSP00000348551:L546I	L	-	1	0	NCOR2	123452907	0.013000	0.17824	0.005000	0.12908	0.564000	0.35744	-0.147000	0.10234	-0.875000	0.04022	-0.715000	0.03620	CTC		0.637	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		4	70	1	0	1	1	1	4	70				
PARP16	54956	broad.mit.edu	37	15	65553256	65553256	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65553256T>C	ENST00000444347.2	-	3	871	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	PARP16_ENST00000261888.6_Missense_Mutation_p.Y267C			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	267	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CACCAGGAGGTACTTCACTCG	0.483																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(799-801)tAc>tGc		poly (ADP-ribose) polymerase family, member 16							186.0	165.0	172.0					15																	65553256		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65553256T>C	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.455A>G	15.37:g.65553256T>C	ENSP00000396118:p.Tyr152Cys					PARP16_ENST00000444347.2_Missense_Mutation_p.Y152C	p.Y267C	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			5	1245	-			267			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.800A>G		.	.	.	.	.	.	.	.	.	.	T	19.28	3.797441	0.70567	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.37915	1.17;1.17	5.21	4.08	0.47627	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.055524	0.85682	D	0.000000	T	0.61677	0.2366	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.994;1.0	T	0.65459	-0.6163	10	0.87932	D	0	-24.1154	10.8033	0.46502	0.1417:0.0:0.0:0.8583	.	267;152;267	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	C	267;152	ENSP00000261888:Y267C;ENSP00000396118:Y152C	ENSP00000261888:Y267C	Y	-	2	0	PARP16	63340309	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.153000	0.71819	0.809000	0.34255	-0.301000	0.09380	TAC		0.483	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		15	141	0	0	0	1	0	15	141				
CHRNA4	1137	broad.mit.edu	37	20	61978114	61978114	+	Silent	SNP	C	C	T	rs202203317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61978114C>T	ENST00000370263.4	-	6	2081	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	620					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCAGCCAGGGCGGCAGGAAGA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15019	0.0		0.001	False		,,,				2504	0.0					ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1858-1860)ccG>ccA		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						81.0	52.0	62.0					20																	61978114		2201	4299	6500	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61978114C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1860G>A	20.37:g.61978114C>T						CHRNA4_ENST00000463705.1_5'UTR	p.P620P	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			6	2081	-	all_cancers(38;1.71e-10)		620					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1860G>A	CCDS13517.1																																																																																				0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			5	11	0	0	0	1	0	5	11				
DDX46	9879	broad.mit.edu	37	5	134109457	134109457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134109457G>A	ENST00000354283.4	+	5	654	c.519G>A	c.(517-519)gaG>gaA	p.E173E	DDX46_ENST00000452510.2_Silent_p.E173E			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	173					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGAGAAGAGCAACGTAAAA	0.373																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(517-519)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							128.0	127.0	127.0					5																	134109457		2203	4300	6503	SO:0001819	synonymous_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134109457G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.519G>A	5.37:g.134109457G>A						DDX46_ENST00000354283.4_Silent_p.E173E	p.E173E	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	677	+			173					O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	c.519G>A	CCDS34240.1																																																																																				0.373	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		14	17	0	0	0	1	0	14	17				
DYNC2H1	79659	broad.mit.edu	37	11	103107184	103107184	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103107184T>C	ENST00000375735.2	+	63	9879	c.9735T>C	c.(9733-9735)tgT>tgC	p.C3245C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C3245C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3245	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTTCTTTGTACTGAAAGTG	0.318																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(9733-9735)tgT>tgC		dynein, cytoplasmic 2, heavy chain 1							90.0	86.0	87.0					11																	103107184		1809	4068	5877	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103107184T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9735T>C	11.37:g.103107184T>C						DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C3245C	p.C3245C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	63	9879	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3245			AAA 5 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.9735T>C	CCDS53701.1																																																																																				0.318	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		24	50	0	0	0	1	0	24	50				
MUC4	4585	broad.mit.edu	37	3	195515893	195515893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515893C>T	ENST00000463781.3	-	2	3017	c.2558G>A	c.(2557-2559)aGt>aAt	p.S853N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S853N|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	858	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCACCATGACTGGCTGAGGC	0.567																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2557-2559)aGt>aAt		mucin 4, cell surface associated							67.0	73.0	71.0					3																	195515893		2120	4225	6345	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515893C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2558G>A	3.37:g.195515893C>T	ENSP00000417498:p.Ser853Asn					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S853N|MUC4_ENST00000346145.4_Intron	p.S853N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3017	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	858			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2558G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.977	0.364226	0.11296	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.47869	0.83;0.85	2.68	-1.8	0.07907	.	2.798060	0.01069	N	0.004798	T	0.35038	0.0918	L	0.29908	0.895	0.09310	N	1	D;P	0.53885	0.963;0.895	B;B	0.44108	0.441;0.356	T	0.19289	-1.0310	10	0.39692	T	0.17	-0.2672	1.9206	0.03306	0.1928:0.2999:0.3794:0.1279	.	853;858	E7ESK3;Q99102	.;MUC4_HUMAN	N	853;853;827	ENSP00000417498:S853N;ENSP00000420243:S853N	ENSP00000376209:S827N	S	-	2	0	MUC4	197000288	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.858000	0.00728	-0.436000	0.07254	0.579000	0.79373	AGT		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		6	34	0	0	0	1	0	6	34				
FSHR	2492	broad.mit.edu	37	2	49190357	49190357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190357G>T	ENST00000406846.2	-	10	1722	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	FSHR_ENST00000541117.1_Missense_Mutation_p.L271I|FSHR_ENST00000346173.3_Missense_Mutation_p.L473I|FSHR_ENST00000304421.4_Missense_Mutation_p.L509I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	535					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TTGAGCACAAGGAGGGACATG	0.517									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1603-1605)Ctt>Att		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						161.0	124.0	137.0					2																	49190357		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190357G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1603C>A	2.37:g.49190357G>T	ENSP00000384708:p.Leu535Ile					FSHR_ENST00000541117.1_Missense_Mutation_p.L271I|FSHR_ENST00000346173.3_Missense_Mutation_p.L473I|FSHR_ENST00000304421.4_Missense_Mutation_p.L509I	p.L535I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1722	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	535					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1603C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305096	0.60305	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82604	0.5073	M	0.77616	2.38	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.995;0.999	T	0.82402	-0.0475	9	.	.	.	.	11.6867	0.51490	0.0882:0.0:0.9118:0.0	.	509;473;535	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	I	535;473;509;271	ENSP00000384708:L535I;ENSP00000333908:L473I;ENSP00000306780:L509I;ENSP00000444172:L271I	.	L	-	1	0	FSHR	49043861	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.747000	0.47475	2.941000	0.99782	0.655000	0.94253	CTT		0.517	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			12	14	1	0	1.5842e-08	1	1.90059e-08	12	14				
SPATA31E1	286234	broad.mit.edu	37	9	90502272	90502272	+	Missense_Mutation	SNP	G	G	A	rs181272197		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90502272G>A	ENST00000325643.5	+	4	2936	c.2870G>A	c.(2869-2871)gGg>gAg	p.G957E		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	957					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G957V(1)									AAGGGCAGGGGGTGTTCTCAG	0.622																																						ENST00000325643.5																			1	Substitution - Missense(1)	p.G957V(1)	lung(1)								c.(2869-2871)gGg>gAg		SPATA31 subfamily E, member 1							42.0	43.0	43.0					9																	90502272		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90502272G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2870G>A	9.37:g.90502272G>A	ENSP00000322640:p.Gly957Glu						p.G957E	NM_178828.4	NP_849150.3					4	2936	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2870G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	6.632	0.485100	0.12641	.	.	ENSG00000177992	ENST00000325643	T	0.03413	3.94	2.46	-4.93	0.03066	.	5.273690	0.00397	N	0.000054	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B	0.25667	0.131	B	0.25614	0.062	T	0.38714	-0.9648	10	0.02654	T	1	.	0.2806	0.00244	0.2044:0.2159:0.1975:0.3822	.	957	Q6ZUB1	CI079_HUMAN	E	957	ENSP00000322640:G957E	ENSP00000322640:G957E	G	+	2	0	C9orf79	89692092	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.798000	0.04565	-1.322000	0.02278	0.557000	0.71058	GGG		0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		4	38	0	0	0	1	0	4	38				
OR13C2	392376	broad.mit.edu	37	9	107367204	107367204	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107367204G>A	ENST00000542196.1	-	1	747	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGAAGCTTTGCTTCTCCCCT	0.403																																						ENST00000542196.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(703-705)agC>agT		olfactory receptor, family 13, subfamily C, member 2							104.0	100.0	101.0					9																	107367204		2201	4300	6501	SO:0001819	synonymous_variant	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367204G>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.705C>T	9.37:g.107367204G>A							p.S235S	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	747	-			235					B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	c.705C>T	CCDS35092.1																																																																																				0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		50	63	0	0	0	1	0	50	63				
CSHL1	1444	broad.mit.edu	37	17	61987304	61987304	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61987304C>T	ENST00000309894.5	-	5	471				CSHL1_ENST00000450719.3_Missense_Mutation_p.S136N|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.S147N|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						AGACCAAGCGCTTGGGCACTG	0.527																																						ENST00000450719.3																			0				endometrium(3)|lung(6)	9						c.(406-408)aGc>aAc		chorionic somatomammotropin hormone-like 1							106.0	101.0	103.0					17																	61987304		2203	4300	6503	SO:0001627	intron_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987304C>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.472-36G>A	17.37:g.61987304C>T						CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.S147N|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron	p.S136N			Q14406	CSHL_HUMAN			3	644	-			0					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.407G>A	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	c	12.75	2.031885	0.35797	.	.	ENSG00000204414	ENST00000450719	.	.	.	1.95	-1.62	0.08372	.	.	.	.	.	T	0.34135	0.0887	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39840	-0.9594	5	0.87932	D	0	.	2.7343	0.05236	0.0:0.3982:0.2538:0.3479	.	.	.	.	N	225	.	ENSP00000413501:S225N	S	-	2	0	GH1	59341036	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.043000	0.12043	-0.360000	0.08138	0.305000	0.20034	AGC		0.527	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		30	49	0	0	0	1	0	30	49				
ZC3H14	79882	broad.mit.edu	37	14	89038558	89038558	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89038558C>T	ENST00000251038.5	+	5	645	c.420C>T	c.(418-420)acC>acT	p.T140T	ZC3H14_ENST00000359301.3_Silent_p.T106T|ZC3H14_ENST00000393514.5_Silent_p.T140T|ZC3H14_ENST00000555755.1_Silent_p.T140T|ZC3H14_ENST00000302216.8_Silent_p.T140T|ZC3H14_ENST00000556945.1_Silent_p.T140T|ZC3H14_ENST00000336693.4_Silent_p.T106T|ZC3H14_ENST00000557607.1_5'UTR	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	140						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTCAAAAACCACAAATGTCA	0.448																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(418-420)acC>acT		zinc finger CCCH-type containing 14							59.0	60.0	60.0					14																	89038558		2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89038558C>T	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.420C>T	14.37:g.89038558C>T						ZC3H14_ENST00000302216.8_Silent_p.T140T|ZC3H14_ENST00000359301.3_Silent_p.T106T|ZC3H14_ENST00000555755.1_Silent_p.T140T|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Silent_p.T140T|ZC3H14_ENST00000393514.5_Silent_p.T140T|ZC3H14_ENST00000336693.4_Silent_p.T106T	p.T140T	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			5	645	+			140					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.420C>T	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381446	0.01204	.	.	ENSG00000100722	ENST00000556000	.	.	.	5.56	1.64	0.23874	.	.	.	.	.	T	0.24353	0.0590	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23048	-1.0199	4	.	.	.	0.4792	4.0512	0.09796	0.2551:0.4679:0.0:0.277	.	.	.	.	L	56	.	.	P	+	2	0	ZC3H14	88108311	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.220000	0.09215	0.032000	0.15435	0.557000	0.71058	CCA		0.448	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		7	27	0	0	0	1	0	7	27				
ARID1A	8289	broad.mit.edu	37	1	27088761	27088761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27088761G>T	ENST00000324856.7	+	7	2741	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q790H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q407H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	790					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTACCAGCAGAACTCCATGG	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2368-2370)caG>caT		AT rich interactive domain 1A (SWI-like)							62.0	64.0	64.0					1																	27088761		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27088761G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2370G>T	1.37:g.27088761G>T	ENSP00000320485:p.Gln790His					ARID1A_ENST00000457599.2_Missense_Mutation_p.Q790H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q407H	p.Q790H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	7	2741	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	790					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2370G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961706	0.53400	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.24723	1.84;1.84;4.09	4.57	2.7	0.31948	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.68952	2.095	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.80764	0.986;0.994;0.986	T	0.29549	-1.0008	10	0.16420	T	0.52	-6.9554	7.9755	0.30153	0.3175:0.0:0.6825:0.0	.	790;790;444	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	790;790;407	ENSP00000320485:Q790H;ENSP00000387636:Q790H;ENSP00000363267:Q407H	ENSP00000320485:Q790H	Q	+	3	2	ARID1A	26961348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.569000	0.45973	0.862000	0.35528	0.655000	0.94253	CAG		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	54	1	0	1	1	1	4	54				
NLRC5	84166	broad.mit.edu	37	16	57063993	57063993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57063993C>T	ENST00000262510.6	+	10	2639	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	NLRC5_ENST00000539144.1_Missense_Mutation_p.A805V|NLRC5_ENST00000436936.1_Missense_Mutation_p.A805V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A805V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	805					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATGCTTCAGGCCAGGTGAGCA	0.562																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(2413-2415)gCc>gTc		NLR family, CARD domain containing 5							105.0	79.0	88.0					16																	57063993		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57063993C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2414C>T	16.37:g.57063993C>T	ENSP00000262510:p.Ala805Val					NLRC5_ENST00000539144.1_Missense_Mutation_p.A805V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A805V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A805V	p.A805V			Q86WI3	NLRC5_HUMAN			10	2639	+		all_neural(199;0.225)	805					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2414C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214447	0.09810	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.72615	-0.25;-0.28;-0.67;-0.28;2.49;0.76	4.86	2.58	0.30949	.	0.272209	0.19611	N	0.110156	T	0.38214	0.1032	N	0.02539	-0.55	0.21652	N	0.999609	B;B;B;B	0.13145	0.001;0.001;0.007;0.001	B;B;B;B	0.14023	0.007;0.009;0.01;0.003	T	0.24905	-1.0147	10	0.10902	T	0.67	.	6.8125	0.23812	0.0:0.336:0.0:0.664	.	805;805;805;805	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	V	805;805;805;279;805;312;104	ENSP00000262510:A805V;ENSP00000308886:A805V;ENSP00000389739:A805V;ENSP00000441727:A805V;ENSP00000441597:A312V;ENSP00000440153:A104V	ENSP00000262510:A805V	A	+	2	0	NLRC5	55621494	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	0.627000	0.24506	0.387000	0.25024	-0.471000	0.05019	GCC		0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	44	0	0	0	1	0	5	44				
C7	730	broad.mit.edu	37	5	40979852	40979852	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40979852G>T	ENST00000313164.9	+	17	2550	c.2191G>T	c.(2191-2193)Gat>Tat	p.D731Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	731	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ATGTGCTCAAGATGAGAGAAG	0.388																																						ENST00000313164.9																			0											c.(2191-2193)Gat>Tat		complement component 7							84.0	82.0	83.0					5																	40979852		1922	4143	6065	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979852G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2191G>T	5.37:g.40979852G>T	ENSP00000322061:p.Asp731Tyr					C7_ENST00000494960.1_3'UTR	p.D731Y	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			17	2550	+		Ovarian(839;0.0112)	731			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2191G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235781	0.58886	.	.	ENSG00000112936	ENST00000313164	T	0.66995	-0.24	5.8	4.93	0.64822	Factor I / membrane attack complex (1);	1.893930	0.02089	N	0.052988	D	0.85008	0.5599	M	0.81341	2.54	0.47737	D	0.999501	D	0.89917	1.0	D	0.74023	0.982	T	0.70930	-0.4738	10	0.72032	D	0.01	-18.0061	13.9568	0.64155	0.0735:0.0:0.9265:0.0	.	731	P10643	CO7_HUMAN	Y	731	ENSP00000322061:D731Y	ENSP00000322061:D731Y	D	+	1	0	C7	41015609	1.000000	0.71417	0.972000	0.41901	0.474000	0.32979	4.920000	0.63390	2.745000	0.94114	0.563000	0.77884	GAT		0.388	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			16	21	1	0	3.41278e-10	1	4.19267e-10	16	21				
PLD1	5337	broad.mit.edu	37	3	171392295	171392295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392295C>T	ENST00000351298.4	-	19	2350	c.2224G>A	c.(2224-2226)Gta>Ata	p.V742I	PLD1_ENST00000356327.5_Missense_Mutation_p.V704I|PLD1_ENST00000340989.4_Missense_Mutation_p.V742I|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTACCTGTACGTTAGCATGG	0.393																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2110-2112)Gta>Ata		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						95.0	88.0	90.0					3																	171392295		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171392295C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2224G>A	3.37:g.171392295C>T	ENSP00000342793:p.Val742Ile					PLD1_ENST00000340989.4_Missense_Mutation_p.V742I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.V742I	p.V704I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		18	2180	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		742			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2110G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176233	0.57692	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.22743	1.94;1.94;1.94	5.8	3.97	0.46021	.	0.115257	0.64402	N	0.000017	T	0.16938	0.0407	L	0.46819	1.47	0.80722	D	1	B;B;B;P	0.39003	0.12;0.241;0.073;0.654	B;B;B;B	0.30495	0.049;0.116;0.022;0.103	T	0.02138	-1.1207	10	0.46703	T	0.11	-6.3071	11.7548	0.51870	0.0:0.8536:0.0:0.1464	.	704;742;727;742	Q13393-2;Q13393-4;Q59EA4;Q13393	.;.;.;PLD1_HUMAN	I	704;742;742	ENSP00000348681:V704I;ENSP00000342793:V742I;ENSP00000340326:V742I	ENSP00000340326:V742I	V	-	1	0	PLD1	172874989	1.000000	0.71417	0.001000	0.08648	0.288000	0.27193	4.896000	0.63222	0.750000	0.32877	-0.142000	0.14014	GTA		0.393	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		10	54	0	0	0	1	0	10	54				
ELOVL7	79993	broad.mit.edu	37	5	60053414	60053414	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:60053414G>T	ENST00000508821.1	-	8	872	c.558C>A	c.(556-558)tcC>tcA	p.S186S	ELOVL7_ENST00000425382.1_Silent_p.S186S|ELOVL7_ENST00000438340.1_Silent_p.S186S|ELOVL7_ENST00000505959.1_Silent_p.S173S	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	186					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTCCATAGTAGGAATACATGA	0.373																																						ENST00000505959.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(517-519)tcC>tcA		ELOVL fatty acid elongase 7							85.0	84.0	84.0					5																	60053414		2203	4300	6503	SO:0001819	synonymous_variant	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60053414G>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.558C>A	5.37:g.60053414G>T						ELOVL7_ENST00000508821.1_Silent_p.S186S|ELOVL7_ENST00000425382.1_Silent_p.S186S|ELOVL7_ENST00000438340.1_Silent_p.S186S	p.S173S			A1L3X0	ELOV7_HUMAN			10	1045	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	186					Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	c.519C>A	CCDS34164.1																																																																																				0.373	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			6	65	1	0	0.00307968	1	0.00325696	6	65				
PIK3CA	5290	broad.mit.edu	37	3	178917576	178917576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178917576G>A	ENST00000263967.3	+	3	608	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	151					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAAGAAGCTGTGGATCTTAG	0.383		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(451-453)Gtg>Atg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							145.0	141.0	142.0					3																	178917576		1837	4096	5933	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917576G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.451G>A	3.37:g.178917576G>A	ENSP00000263967:p.Val151Met	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.V151M	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	608	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		151					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.451G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049304	0.55218	.	.	ENSG00000121879	ENST00000263967	T	0.42900	0.96	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.39397	1.21	0.80722	D	1	B	0.28378	0.209	B	0.23716	0.048	T	0.12293	-1.0553	10	0.45353	T	0.12	-17.4667	20.0951	0.97834	0.0:0.0:1.0:0.0	.	151	P42336	PK3CA_HUMAN	M	151	ENSP00000263967:V151M	ENSP00000263967:V151M	V	+	1	0	PIK3CA	180400270	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.753000	0.94483	0.467000	0.42956	GTG		0.383	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	115	0	0	0	1	0	10	115				
NLGN4X	57502	broad.mit.edu	37	X	5821135	5821135	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821135C>T	ENST00000381095.3	-	5	2211	c.1584G>A	c.(1582-1584)acG>acA	p.T528T	NLGN4X_ENST00000381092.1_Silent_p.T528T|NLGN4X_ENST00000381093.2_Silent_p.T548T|NLGN4X_ENST00000275857.6_Silent_p.T528T|NLGN4X_ENST00000538097.1_Silent_p.T528T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	528					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGAAGTTCGTCCAGTAGG	0.502																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1582-1584)acG>acA		neuroligin 4, X-linked							152.0	111.0	125.0					X																	5821135		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821135C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1584G>A	X.37:g.5821135C>T						NLGN4X_ENST00000275857.6_Silent_p.T528T|NLGN4X_ENST00000381093.2_Silent_p.T548T|NLGN4X_ENST00000381092.1_Silent_p.T528T|NLGN4X_ENST00000538097.1_Silent_p.T528T	p.T528T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2211	-			528					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1584G>A	CCDS14126.1																																																																																				0.502	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		24	44	0	0	0	1	0	24	44				
IKBKB	3551	broad.mit.edu	37	8	42163935	42163935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42163935G>A	ENST00000520810.1	+	7	738	c.552G>A	c.(550-552)ggG>ggA	p.G184G	IKBKB_ENST00000416505.2_Silent_p.G125G|IKBKB_ENST00000519735.1_Silent_p.G184G|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.G182G	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CATTCGTGGGGACCCTGCAGT	0.512																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(550-552)ggG>ggA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						119.0	112.0	115.0					8																	42163935		2203	4300	6503	SO:0001819	synonymous_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42163935G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.552G>A	8.37:g.42163935G>A						IKBKB_ENST00000520835.1_Silent_p.G182G|IKBKB_ENST00000416505.2_Silent_p.G125G|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000519735.1_Silent_p.G184G|IKBKB_ENST00000522147.1_Intron	p.G184G	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		7	738	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	184			Protein kinase.		B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.552G>A	CCDS6128.1																																																																																				0.512	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			11	21	0	0	0	1	0	11	21				
PHF12	57649	broad.mit.edu	37	17	27239830	27239830	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27239830G>C	ENST00000332830.4	-	9	2569	c.1759C>G	c.(1759-1761)Cca>Gca	p.P587A	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.P587A|PHF12_ENST00000268756.3_Missense_Mutation_p.P587A	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCGCTGGTGGCGTGAGGGGC	0.652																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1759-1761)Cca>Gca		PHD finger protein 12							34.0	40.0	38.0					17																	27239830		2203	4299	6502	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27239830G>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1759C>G	17.37:g.27239830G>C	ENSP00000329933:p.Pro587Ala					PHF12_ENST00000332830.4_Missense_Mutation_p.P587A|PHF12_ENST00000268756.3_Missense_Mutation_p.P587A|PHF12_ENST00000582655.1_5'UTR	p.P587A			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	2105	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		587			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1759C>G	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509479	0.44660	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.95272	-3.44;-3.66;-3.66	5.68	5.68	0.88126	.	0.111350	0.64402	D	0.000008	D	0.93956	0.8065	L	0.47716	1.5	0.58432	D	0.999999	P;P;D;D;P	0.53151	0.767;0.851;0.957;0.958;0.767	B;P;P;P;B	0.47981	0.344;0.546;0.563;0.549;0.344	D	0.94437	0.7655	10	0.72032	D	0.01	-25.0833	18.3681	0.90398	0.0:0.0:1.0:0.0	.	569;587;587;587;587	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	A	587	ENSP00000329933:P587A;ENSP00000368157:P587A;ENSP00000268756:P587A	ENSP00000268756:P587A	P	-	1	0	PHF12	24263956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.428000	0.73383	2.683000	0.91414	0.655000	0.94253	CCA		0.652	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		3	55	0	0	0	1	0	3	55				
NFATC2	4773	broad.mit.edu	37	20	50140512	50140512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50140512C>A	ENST00000396009.3	-	2	487	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NFATC2_ENST00000371564.3_Missense_Mutation_p.D90Y|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.D70Y|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.D70Y	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	90					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D90Y(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCTACCCTATCCGGCTCTCCG	0.647																																						ENST00000371564.3																		EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.D90Y(1)	lung(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(268-270)Gat>Tat		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							32.0	38.0	36.0					20																	50140512		2199	4295	6494	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140512C>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.268G>T	20.37:g.50140512C>A	ENSP00000379330:p.Asp90Tyr					NFATC2_ENST00000414705.1_Missense_Mutation_p.D70Y|NFATC2_ENST00000396009.3_Missense_Mutation_p.D90Y	p.D90Y	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	487	-	Hepatocellular(150;0.248)		90					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.268G>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445522	0.63178	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.71934	-0.61;-0.61;-0.61	5.22	5.22	0.72569	.	0.110087	0.64402	D	0.000008	T	0.80576	0.4649	L	0.42245	1.32	0.49389	D	0.999784	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.85130	0.923;0.997;0.982;0.979	T	0.82452	-0.0450	10	0.87932	D	0	-6.0495	18.7626	0.91858	0.0:1.0:0.0:0.0	.	70;70;90;90	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	Y	90;90;70	ENSP00000360619:D90Y;ENSP00000379330:D90Y;ENSP00000396471:D70Y	ENSP00000360619:D90Y	D	-	1	0	NFATC2	49573919	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.585000	0.67497	2.439000	0.82584	0.313000	0.20887	GAT		0.647	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		9	69	1	0	1.76689e-08	1	2.11513e-08	9	69				
DEGS1	8560	broad.mit.edu	37	1	224380147	224380147	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224380147G>T	ENST00000323699.4	+	3	1105	c.939G>T	c.(937-939)aaG>aaT	p.K313N	DEGS1_ENST00000391877.3_Missense_Mutation_p.K313N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	313					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CAAGAATGAAGAGGCACCAAA	0.363																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(937-939)aaG>aaT		delta(4)-desaturase, sphingolipid 1							69.0	63.0	65.0					1																	224380147		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224380147G>T	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.939G>T	1.37:g.224380147G>T	ENSP00000316476:p.Lys313Asn					DEGS1_ENST00000391877.3_Missense_Mutation_p.K313N	p.K313N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	3	1105	+	Breast(184;0.193)		313						Missense_Mutation	SNP	ENST00000323699.4	37	c.939G>T	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949724	0.73787	.	.	ENSG00000143753	ENST00000323699;ENST00000391877	T;T	0.35605	1.3;1.3	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	T	0.69691	-0.5077	9	.	.	.	.	7.6714	0.28462	0.1913:0.0:0.8087:0.0	.	313	O15121	DEGS1_HUMAN	N	313	ENSP00000316476:K313N;ENSP00000375749:K313N	.	K	+	3	2	DEGS1	222446770	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.675000	0.54605	2.771000	0.95319	0.561000	0.74099	AAG		0.363	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			4	36	1	0	0.000602214	1	0.000649039	4	36				
ANKAR	150709	broad.mit.edu	37	2	190585463	190585463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190585463G>T	ENST00000520309.1	+	12	2673	c.2585G>T	c.(2584-2586)aGa>aTa	p.R862I	ANKAR_ENST00000281412.6_Missense_Mutation_p.R626I|ANKAR_ENST00000313581.4_Missense_Mutation_p.R862I|ANKAR_ENST00000431575.2_Missense_Mutation_p.R791I|ANKAR_ENST00000438402.2_Missense_Mutation_p.R862I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	862						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGAGCTGTGAGAGAACATAAA	0.313																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2584-2586)aGa>aTa		ankyrin and armadillo repeat containing							203.0	225.0	218.0					2																	190585463		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190585463G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2585G>T	2.37:g.190585463G>T	ENSP00000427882:p.Arg862Ile					ANKAR_ENST00000313581.4_Missense_Mutation_p.R862I|ANKAR_ENST00000281412.6_Missense_Mutation_p.R626I|ANKAR_ENST00000438402.2_Missense_Mutation_p.R862I|ANKAR_ENST00000431575.2_Missense_Mutation_p.R791I	p.R862I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		12	2673	+			862					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2585G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252508	0.39797	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	4.84	-0.727	0.11166	.	0.534882	0.19223	N	0.119614	T	0.27454	0.0674	L	0.43152	1.355	0.37661	D	0.922775	.	.	.	.	.	.	T	0.13899	-1.0492	8	0.42905	T	0.14	-9.7569	4.9074	0.13806	0.4031:0.0:0.4539:0.143	.	.	.	.	I	862;862;862;791;626	ENSP00000427882:R862I;ENSP00000313513:R862I;ENSP00000397243:R862I;ENSP00000393043:R791I;ENSP00000281412:R626I	ENSP00000281412:R626I	R	+	2	0	ANKAR	190293708	0.046000	0.20272	0.997000	0.53966	0.724000	0.41520	-0.783000	0.04638	-0.019000	0.14055	0.655000	0.94253	AGA		0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		65	133	1	0	1.4051e-37	1	1.89297e-37	65	133				
SF1	7536	broad.mit.edu	37	11	64540927	64540927	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64540927C>A	ENST00000377390.3	-	3	548	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SF1_ENST00000377394.3_Missense_Mutation_p.G71C|SF1_ENST00000433274.2_Missense_Mutation_p.G45C|SF1_ENST00000227503.9_Missense_Mutation_p.G71C|SF1_ENST00000334944.5_Missense_Mutation_p.G71C|SF1_ENST00000377387.1_Missense_Mutation_p.G196C|SF1_ENST00000422298.2_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	71					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGGGATGCCCAGGTCTCCT	0.443																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(211-213)Ggc>Tgc		splicing factor 1							80.0	70.0	74.0					11																	64540927		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64540927C>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.211G>T	11.37:g.64540927C>A	ENSP00000366607:p.Gly71Cys					SF1_ENST00000377394.3_Missense_Mutation_p.G71C|SF1_ENST00000334944.5_Missense_Mutation_p.G71C|SF1_ENST00000433274.2_Missense_Mutation_p.G45C|SF1_ENST00000227503.9_Missense_Mutation_p.G71C|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Missense_Mutation_p.G196C	p.G71C	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			3	548	-			71					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.211G>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518524	0.85495	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274;ENST00000432725	T;T;T;T;T;T	0.48836	0.8;0.83;0.83;0.85;0.8;0.82	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.98;0.991;0.997	T	0.70029	-0.4984	10	0.72032	D	0.01	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	71;71;71;71;196	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	C	196;71;71;71;71;45;45	ENSP00000366604:G196C;ENSP00000366607:G71C;ENSP00000227503:G71C;ENSP00000366611:G71C;ENSP00000334414:G71C;ENSP00000396793:G45C	ENSP00000227503:G71C	G	-	1	0	SF1	64297503	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.318000	0.79029	2.894000	0.99253	0.655000	0.94253	GGC		0.443	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		3	25	1	0	0.00909568	1	0.00947522	3	25				
ZNF496	84838	broad.mit.edu	37	1	247492846	247492846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492846G>A	ENST00000294753.4	-	3	499	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZNF496_ENST00000366498.2_Missense_Mutation_p.P12L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	12					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTTTCCTTCGGAGCCAAGAC	0.592																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(34-36)cCg>cTg		zinc finger protein 496							61.0	75.0	70.0					1																	247492846		2202	4300	6502	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492846G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.35C>T	1.37:g.247492846G>A	ENSP00000294753:p.Pro12Leu					ZNF496_ENST00000366498.2_Missense_Mutation_p.P12L	p.P12L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	499	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		12					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.35C>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083913	0.76642	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08634	3.12;3.07	4.11	4.11	0.48088	.	.	.	.	.	T	0.11324	0.0276	N	0.08118	0	0.47778	D	0.999513	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.925	T	0.40905	-0.9538	8	.	.	.	.	12.0547	0.53527	0.0:0.0:1.0:0.0	.	12;12	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	L	12	ENSP00000294753:P12L;ENSP00000355454:P12L	.	P	-	2	0	ZNF496	245559469	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	3.150000	0.50662	2.290000	0.77057	0.561000	0.74099	CCG		0.592	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		43	76	0	0	0	1	0	43	76				
TYRP1	7306	broad.mit.edu	37	9	12695729	12695729	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12695729C>T	ENST00000388918.5	+	3	729	c.600C>T	c.(598-600)ttC>ttT	p.F200F	TYRP1_ENST00000381136.2_5'UTR|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	200					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAAAGACTTTCCTTGGGGTAG	0.448									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(598-600)ttC>ttT		tyrosinase-related protein 1							92.0	93.0	92.0					9																	12695729		2203	4300	6503	SO:0001819	synonymous_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695729C>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.600C>T	9.37:g.12695729C>T						TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'UTR	p.F200F	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	3	729	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	200					P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	c.600C>T	CCDS34990.1																																																																																				0.448	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		28	57	0	0	0	1	0	28	57				
TNIP2	79155	broad.mit.edu	37	4	2749465	2749465	+	Missense_Mutation	SNP	C	C	T	rs201862092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2749465C>T	ENST00000315423.7	-	2	570	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	TNIP2_ENST00000510267.1_Missense_Mutation_p.A55T|TNIP2_ENST00000503235.1_Missense_Mutation_p.A162T|TNIP2_ENST00000505186.1_5'Flank	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACATGTGGGCGGTGGCGGTC	0.627													c|||	1	0.000199681	0.0	0.0	5008	,	,		17923	0.0		0.001	False		,,,				2504	0.0					ENST00000510267.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(163-165)Gcc>Acc		TNFAIP3 interacting protein 2							173.0	153.0	160.0					4																	2749465		2203	4300	6503	SO:0001583	missense	79155					cytosol	protein binding	g.chr4:2749465C>T	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.484G>A	4.37:g.2749465C>T	ENSP00000321203:p.Ala162Thr					TNIP2_ENST00000503235.1_Missense_Mutation_p.A162T|TNIP2_ENST00000315423.7_Missense_Mutation_p.A162T	p.A55T	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	590	-			162						Missense_Mutation	SNP	ENST00000315423.7	37	c.163G>A	CCDS3362.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	32	5.185109	0.94885	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.55413	0.52;1.8;1.8	3.81	3.81	0.43845	.	0.067658	0.64402	D	0.000015	T	0.71082	0.3298	M	0.79475	2.455	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.926	T	0.73694	-0.3902	10	0.42905	T	0.14	-15.1327	15.2241	0.73336	0.0:1.0:0.0:0.0	.	162;162	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	T	55;162;162	ENSP00000427613:A55T;ENSP00000321203:A162T;ENSP00000426314:A162T	ENSP00000321203:A162T	A	-	1	0	TNIP2	2719263	0.998000	0.40836	0.957000	0.39632	0.914000	0.54420	4.058000	0.57463	2.143000	0.66587	0.550000	0.68814	GCC		0.627	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		65	93	0	0	0	1	0	65	93				
RBM19	9904	broad.mit.edu	37	12	114352798	114352798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114352798C>T	ENST00000545145.2	-	21	2612	c.2534G>A	c.(2533-2535)aGc>aAc	p.S845N	RBM19_ENST00000261741.5_Missense_Mutation_p.S845N|RBM19_ENST00000392561.3_Missense_Mutation_p.S845N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	845	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATCTCCCGGCTGTGGGCCTG	0.602																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2533-2535)aGc>aAc		RNA binding motif protein 19							112.0	104.0	107.0					12																	114352798		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114352798C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2534G>A	12.37:g.114352798C>T	ENSP00000442053:p.Ser845Asn					RBM19_ENST00000392561.3_Missense_Mutation_p.S845N|RBM19_ENST00000261741.5_Missense_Mutation_p.S845N	p.S845N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			21	2612	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		845			RRM 6.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2534G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544907	0.27652	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.16196	2.36;2.36;2.36	5.44	-3.8	0.04307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.664122	0.15221	N	0.273931	T	0.08537	0.0212	N	0.16037	0.36	0.09310	N	1	B	0.28470	0.213	B	0.35770	0.21	T	0.35943	-0.9768	10	0.28530	T	0.3	0.0373	6.012	0.19582	0.6097:0.177:0.0:0.2133	.	845	Q9Y4C8	RBM19_HUMAN	N	845	ENSP00000442053:S845N;ENSP00000376344:S845N;ENSP00000261741:S845N	ENSP00000261741:S845N	S	-	2	0	RBM19	112837181	0.993000	0.37304	0.001000	0.08648	0.587000	0.36485	0.534000	0.23098	-0.463000	0.06973	0.557000	0.71058	AGC		0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		40	91	0	0	0	1	0	40	91				
FHOD1	29109	broad.mit.edu	37	16	67272337	67272337	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272337G>A	ENST00000258201.4	-	4	634	c.387C>T	c.(385-387)agC>agT	p.S129S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	129	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACCACTGGAGCTATACAGCT	0.532																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(385-387)agC>agT		formin homology 2 domain containing 1							65.0	63.0	64.0					16																	67272337		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67272337G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.387C>T	16.37:g.67272337G>A						FHOD1_ENST00000567687.1_Intron	p.S129S	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	4	634	-		Ovarian(137;0.0563)	129			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.387C>T	CCDS10834.1																																																																																				0.532	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			11	9	0	0	0	1	0	11	9				
SIGLEC8	27181	broad.mit.edu	37	19	51955822	51955822	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51955822G>T	ENST00000321424.3	-	7	1377	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	SIGLEC8_ENST00000430817.1_Silent_p.P328P|SIGLEC8_ENST00000340550.5_Silent_p.P344P|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	437					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTGACGAGGGGGCAACAG	0.572																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1309-1311)ccC>ccA		sialic acid binding Ig-like lectin 8							42.0	44.0	43.0					19																	51955822		2203	4300	6503	SO:0001819	synonymous_variant	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955822G>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1311C>A	19.37:g.51955822G>T						SIGLEC8_ENST00000430817.1_Silent_p.P328P|SIGLEC8_ENST00000340550.5_Silent_p.P344P	p.P437P	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1377	-		all_neural(266;0.0199)	437					Q7Z728	Silent	SNP	ENST00000321424.3	37	c.1311C>A	CCDS33086.1																																																																																				0.572	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		7	40	1	0	0.000157383	1	0.00017284	7	40				
IRS4	8471	broad.mit.edu	37	X	107977626	107977626	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977626C>A	ENST00000372129.2	-	1	2025	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAATCTTCCCCCAGACTTCCC	0.498																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1948-1950)gGg>gTg		insulin receptor substrate 4							217.0	231.0	227.0					X																	107977626		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977626C>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1949G>T	X.37:g.107977626C>A	ENSP00000361202:p.Gly650Val						p.G650V	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2025	-			650						Missense_Mutation	SNP	ENST00000372129.2	37	c.1949G>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	9.255	1.041618	0.19748	.	.	ENSG00000133124	ENST00000372129	T	0.45276	0.9	4.9	3.04	0.35103	.	0.415796	0.21187	N	0.078716	T	0.32941	0.0846	L	0.59436	1.845	0.31434	N	0.672731	B	0.12630	0.006	B	0.15052	0.012	T	0.34129	-0.9841	10	0.46703	T	0.11	-7.7043	2.3778	0.04346	0.1844:0.5011:0.2048:0.1097	.	650	O14654	IRS4_HUMAN	V	650	ENSP00000361202:G650V	ENSP00000361202:G650V	G	-	2	0	IRS4	107864282	0.012000	0.17670	0.973000	0.42090	0.425000	0.31504	1.660000	0.37397	1.044000	0.40200	-0.222000	0.12452	GGG		0.498	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		143	267	1	0	1.91924e-68	1	2.59825e-68	143	267				
TPH2	121278	broad.mit.edu	37	12	72425324	72425324	+	Missense_Mutation	SNP	G	G	A	rs120074175		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72425324G>A	ENST00000333850.3	+	11	1463	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	441			R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity). {ECO:0000269|PubMed:15629698}.		aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCAATTACCCGTCCCTTCTCA	0.418																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41	GRCh37	CM051233	TPH2	M	rs120074175	c.(1321-1323)cGt>cAt		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						100.0	87.0	91.0					12																	72425324		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425324G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1322G>A	12.37:g.72425324G>A	ENSP00000329093:p.Arg441His						p.R441H	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			11	1463	+			441		R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity).			A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1322G>A	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953459	0.92660	.	.	ENSG00000139287	ENST00000333850	D	0.99784	-6.74	5.86	5.86	0.93980	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97005	0.9732	10	0.87932	D	0	-16.8896	20.1858	0.98214	0.0:0.0:1.0:0.0	.	441	Q8IWU9	TPH2_HUMAN	H	441	ENSP00000329093:R441H	ENSP00000329093:R441H	R	+	2	0	TPH2	70711591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	CGT		0.418	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		22	28	0	0	0	1	0	22	28				
CLCA2	9635	broad.mit.edu	37	1	86900358	86900358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86900358C>T	ENST00000370565.4	+	6	1064	c.902C>T	c.(901-903)aCa>aTa	p.T301I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	301					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTCCTCCCACATTCTCGCTT	0.478																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(901-903)aCa>aTa		chloride channel accessory 2							181.0	152.0	162.0					1																	86900358		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86900358C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.902C>T	1.37:g.86900358C>T	ENSP00000359596:p.Thr301Ile						p.T301I	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	6	1064	+		Lung NSC(277;0.238)	301					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.902C>T	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299314	0.60195	.	.	ENSG00000137975	ENST00000370565	T	0.03330	3.97	6.17	1.14	0.20703	.	0.500967	0.22402	N	0.060536	T	0.01523	0.0049	L	0.53617	1.68	0.09310	N	1	B	0.17038	0.02	B	0.17722	0.019	T	0.42783	-0.9431	10	0.45353	T	0.12	-0.3054	9.4576	0.38764	0.0:0.6342:0.0:0.3658	.	301	Q9UQC9	CLCA2_HUMAN	I	301	ENSP00000359596:T301I	ENSP00000359596:T301I	T	+	2	0	CLCA2	86672946	0.000000	0.05858	0.008000	0.14137	0.997000	0.91878	0.079000	0.14782	0.165000	0.19558	0.655000	0.94253	ACA		0.478	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		35	128	0	0	0	1	0	35	128				
SIK2	23235	broad.mit.edu	37	11	111591742	111591742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111591742C>T	ENST00000304987.3	+	12	2073	c.1900C>T	c.(1900-1902)Ccg>Tcg	p.P634S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	634					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAACCTGGCGCCGGCGGCTCC	0.532																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1900-1902)Ccg>Tcg		salt-inducible kinase 2							61.0	66.0	65.0					11																	111591742		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111591742C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1900C>T	11.37:g.111591742C>T	ENSP00000305976:p.Pro634Ser						p.P634S	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			12	2073	+			634					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1900C>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466384	0.04476	.	.	ENSG00000170145	ENST00000304987	T	0.71341	-0.56	6.17	-1.41	0.08941	.	0.491277	0.23201	N	0.050786	T	0.31167	0.0788	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39099	-0.9630	10	0.09084	T	0.74	.	9.467	0.38820	0.0:0.5083:0.1232:0.3685	.	634	Q9H0K1	SIK2_HUMAN	S	634	ENSP00000305976:P634S	ENSP00000305976:P634S	P	+	1	0	SIK2	111096952	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.688000	0.25422	-0.247000	0.09597	-0.302000	0.09304	CCG		0.532	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		23	54	0	0	0	1	0	23	54				
GUCY2F	2986	broad.mit.edu	37	X	108718910	108718910	+	Missense_Mutation	SNP	C	C	T	rs199503618		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108718910C>T	ENST00000218006.2	-	2	547	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	86					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGATGGGTCCCGGTTGATT	0.502											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(256-258)Gac>Aac		guanylate cyclase 2F, retinal							91.0	90.0	91.0					X																	108718910		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108718910C>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.256G>A	X.37:g.108718910C>T	ENSP00000218006:p.Asp86Asn		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.D86N	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	547	-			86					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.256G>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476930	0.63849	.	.	ENSG00000101890	ENST00000218006	D	0.83419	-1.72	4.95	4.08	0.47627	Extracellular ligand-binding receptor (1);	0.051831	0.85682	N	0.000000	D	0.85635	0.5742	M	0.71036	2.16	0.58432	D	0.999996	P	0.49447	0.924	P	0.53760	0.734	D	0.83595	0.0125	10	0.33141	T	0.24	.	10.2102	0.43136	0.0:0.9007:0.0:0.0993	.	86	P51841	GUC2F_HUMAN	N	86	ENSP00000218006:D86N	ENSP00000218006:D86N	D	-	1	0	GUCY2F	108605566	1.000000	0.71417	0.800000	0.32199	0.528000	0.34623	4.424000	0.59868	1.200000	0.43188	0.600000	0.82982	GAC		0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		10	143	0	0	0	1	0	10	143				
RIN1	9610	broad.mit.edu	37	11	66102523	66102523	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102523C>G	ENST00000311320.4	-	6	873	c.747G>C	c.(745-747)gtG>gtC	p.V249V	RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Silent_p.V144V|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Silent_p.V144V	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	249					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCTCTGTGGACACGCGCACTT	0.672																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(745-747)gtG>gtC		Ras and Rab interactor 1							56.0	53.0	54.0					11																	66102523		2200	4295	6495	SO:0001819	synonymous_variant	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102523C>G	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.747G>C	11.37:g.66102523C>G						RIN1_ENST00000424433.2_Silent_p.V144V|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.V144V	p.V249V	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	873	-			249					O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	c.747G>C	CCDS31614.1																																																																																				0.672	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		20	38	0	0	0	1	0	20	38				
SBF1	6305	broad.mit.edu	37	22	50906115	50906115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50906115G>A	ENST00000390679.3	-	4	468	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SBF1_ENST00000380817.3_Missense_Mutation_p.T95M|SBF1_ENST00000348911.6_Missense_Mutation_p.T96M			O95248	MTMR5_HUMAN	SET binding factor 1	95					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGCGCGTCGTTTCCTGCTG	0.652																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(283-285)aCg>aTg		SET binding factor 1							44.0	42.0	43.0					22																	50906115		1990	4134	6124	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50906115G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.284C>T	22.37:g.50906115G>A	ENSP00000375097:p.Thr95Met					SBF1_ENST00000390679.3_Missense_Mutation_p.T95M|SBF1_ENST00000348911.6_Missense_Mutation_p.T96M	p.T95M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	4	467	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	95					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.284C>T		.	.	.	.	.	.	.	.	.	.	G	2.683	-0.275024	0.05679	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86956	-2.12;-2.19;-2.12	4.39	-0.44	0.12261	.	0.842996	0.10353	N	0.684831	T	0.68155	0.2970	N	0.08118	0	0.09310	N	1	P;B	0.34997	0.479;0.352	B;B	0.29176	0.068;0.099	T	0.59606	-0.7423	10	0.48119	T	0.1	.	4.11	0.10055	0.3696:0.0:0.4769:0.1535	.	96;95	G5E933;O95248-4	.;.	M	95;96;106;105;95	ENSP00000370196:T95M;ENSP00000252027:T96M;ENSP00000375097:T95M	ENSP00000336522:T105M	T	-	2	0	SBF1	49252981	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.770000	0.04705	-0.068000	0.12953	-0.254000	0.11334	ACG		0.652	SBF1-201	KNOWN	basic	protein_coding	protein_coding				13	13	0	0	0	1	0	13	13				
KCNS2	3788	broad.mit.edu	37	8	99440410	99440410	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99440410A>G	ENST00000287042.4	+	2	553	c.203A>G	c.(202-204)gAg>gGg	p.E68G	KCNS2_ENST00000521839.1_Missense_Mutation_p.E68G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	68					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTCCAGCGGGAGTTCTACTTC	0.607																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(202-204)gAg>gGg		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							125.0	98.0	107.0					8																	99440410		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440410A>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.203A>G	8.37:g.99440410A>G	ENSP00000287042:p.Glu68Gly					KCNS2_ENST00000521839.1_Missense_Mutation_p.E68G	p.E68G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	553	+	Breast(36;2.4e-06)		68					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.203A>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	a	22.1	4.248100	0.80024	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.80123	-1.34;-1.34	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	H	0.97732	4.065	0.54753	D	0.999986	D	0.76494	0.999	D	0.83275	0.996	D	0.95554	0.8623	10	0.87932	D	0	.	15.1053	0.72315	1.0:0.0:0.0:0.0	.	68	Q9ULS6	KCNS2_HUMAN	G	68	ENSP00000287042:E68G;ENSP00000430712:E68G	ENSP00000287042:E68G	E	+	2	0	KCNS2	99509586	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	9.336000	0.96533	2.041000	0.60428	0.456000	0.33151	GAG		0.607	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		29	46	0	0	0	1	0	29	46				
RPL29	6159	broad.mit.edu	37	3	52029074	52029074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52029074T>C	ENST00000466397.1	-	3	226	c.86A>G	c.(85-87)tAc>tGc	p.Y29C	RPL29_ENST00000479017.1_Missense_Mutation_p.Y29C|RPL29_ENST00000475248.1_Missense_Mutation_p.Y29C|RPL29_ENST00000495383.1_Missense_Mutation_p.Y29C|RPL29_ENST00000481629.1_Missense_Mutation_p.Y29C|RPL29_ENST00000294189.6_Missense_Mutation_p.Y29C			P47914	RL29_HUMAN	ribosomal protein L29	29					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGAGATTCGTATCTTTGTGA	0.428																																						ENST00000481629.1																			0				lung(1)	1						c.(85-87)tAc>tGc		ribosomal protein L29							156.0	152.0	153.0					3																	52029074		2203	4300	6503	SO:0001583	missense	6159				embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome	g.chr3:52029074T>C	U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"""L ribosomal proteins"""	10331	protein-coding gene	gene with protein product	"""60S ribosomal protein L29"", ""heparin/heparan sulfate-interacting protein"", ""HP/HS-interacting protein"", ""heparin/heparan sulfate-binding protein"", ""cell surface heparin-binding protein HIP"""	601832	"""ribosomal protein L29 pseudogene 10"""	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.86A>G	3.37:g.52029074T>C	ENSP00000418868:p.Tyr29Cys					RPL29_ENST00000466397.1_Missense_Mutation_p.Y29C|RPL29_ENST00000294189.6_Missense_Mutation_p.Y29C|RPL29_ENST00000495383.1_Missense_Mutation_p.Y29C|RPL29_ENST00000475248.1_Missense_Mutation_p.Y29C|RPL29_ENST00000479017.1_Missense_Mutation_p.Y29C	p.Y29C			P47914	RL29_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	118	-			29					A8K0H3|B2R4M8|Q6IPY3	Missense_Mutation	SNP	ENST00000466397.1	37	c.86A>G	CCDS2845.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493242	0.64186	.	.	ENSG00000162244	ENST00000466397;ENST00000294189;ENST00000479017;ENST00000495383;ENST00000475248;ENST00000492277;ENST00000481629	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.56455	0.1986	M	0.92970	3.365	0.53688	D	0.999978	B	0.28998	0.23	B	0.32211	0.142	T	0.64162	-0.6472	10	0.87932	D	0	.	13.8311	0.63382	0.0:0.0:0.0:1.0	.	29	P47914	RL29_HUMAN	C	29	ENSP00000418868:Y29C;ENSP00000294189:Y29C;ENSP00000418153:Y29C;ENSP00000420673:Y29C;ENSP00000417048:Y29C;ENSP00000418346:Y29C	ENSP00000294189:Y29C	Y	-	2	0	RPL29	52004114	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.410000	0.73294	2.209000	0.71365	0.459000	0.35465	TAC		0.428	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349680.2	NM_000992		10	135	0	0	0	1	0	10	135				
CPEB1	64506	broad.mit.edu	37	15	83215914	83215914	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83215914T>G	ENST00000562019.1	-	10	1804	c.1488A>C	c.(1486-1488)aaA>aaC	p.K496N	RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.K226T|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K491N|CPEB1_ENST00000563800.1_Missense_Mutation_p.K518N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K265N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K416N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K416N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K416N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K494N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K416N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K421N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	496	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTGGTGGTTTTGATCTCCA	0.493																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(1552-1554)aaA>aaC		cytoplasmic polyadenylation element binding protein 1							102.0	97.0	99.0					15																	83215914		1919	4145	6064	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83215914T>G	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1488A>C	15.37:g.83215914T>G	ENSP00000457836:p.Lys496Asn					CPEB1_ENST00000261723.6_Missense_Mutation_p.K494N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K421N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K416N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K416N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.K226T|CPEB1_ENST00000423133.2_Missense_Mutation_p.K416N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K491N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K416N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K265N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K496N	p.K518N			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		10	3279	-			496			Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1554A>C		.	.	.	.	.	.	.	.	.	.	t	18.59	3.656669	0.67586	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.18	2.85	0.33270	RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.42108	0.1188	M	0.62154	1.92	0.51482	D	0.999927	D;D;D;D	0.76494	0.999;0.999;0.997;0.999	D;D;D;D	0.66847	0.943;0.943;0.947;0.943	T	0.14615	-1.0466	10	0.56958	D	0.05	-9.9601	8.8399	0.35135	0.0:0.2174:0.0:0.7826	.	494;491;496;491	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	N	491;491;416;421;494;265	ENSP00000397526:K416N;ENSP00000381591:K421N;ENSP00000261723:K494N;ENSP00000381592:K265N	ENSP00000261723:K494N	K	-	3	2	CPEB1	81012969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.313000	0.33585	0.376000	0.24707	0.482000	0.46254	AAA		0.493	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		33	40	0	0	0	1	0	33	40				
RPL32P3	132241	broad.mit.edu	37	3	129116154	129116154	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129116154G>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAAGCTGGCAGAATACTAGGC	0.547																																						ENST00000384360.1																			0																				164.0	154.0	157.0					3																	129116154		876	1991	2867			0							g.chr3:129116154G>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116154G>T						RPL32P3_ENST00000514355.1_RNA		NR_002992.2						0	37	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.547	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			27	63	1	0	3.65163e-15	1	4.68019e-15	27	63				
CABIN1	23523	broad.mit.edu	37	22	24451535	24451535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24451535G>A	ENST00000398319.2	+	9	1391	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CABIN1_ENST00000263119.5_Missense_Mutation_p.A336T|CABIN1_ENST00000405822.2_Missense_Mutation_p.A286T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	336					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGGCTGTCGCCGAGCCTGT	0.612																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1006-1008)Gcc>Acc		calcineurin binding protein 1							77.0	69.0	71.0					22																	24451535		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24451535G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1006G>A	22.37:g.24451535G>A	ENSP00000381364:p.Ala336Thr					CABIN1_ENST00000405822.2_Missense_Mutation_p.A286T|CABIN1_ENST00000263119.5_Missense_Mutation_p.A336T	p.A336T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			9	1391	+			336					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1006G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813370	0.32053	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.65732	0.44;0.06;-0.17;0.43;0.06	5.59	2.2	0.27929	.	0.627917	0.17175	N	0.184123	T	0.46268	0.1384	L	0.36672	1.1	0.19945	N	0.999941	B;B;B;B	0.31100	0.04;0.013;0.308;0.205	B;B;B;B	0.24974	0.006;0.005;0.057;0.026	T	0.26189	-1.0110	10	0.30078	T	0.28	.	9.5229	0.39147	0.1499:0.1621:0.688:0.0	.	291;336;286;336	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	T	291;336;286;291;336;336	ENSP00000394209:A291T;ENSP00000263119:A336T;ENSP00000384694:A286T;ENSP00000412389:A291T;ENSP00000381364:A336T	ENSP00000263119:A336T	A	+	1	0	CABIN1	22781535	0.000000	0.05858	0.006000	0.13384	0.033000	0.12548	0.069000	0.14552	0.859000	0.35456	-0.151000	0.13558	GCC		0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		16	32	0	0	0	1	0	16	32				
IFT43	112752	broad.mit.edu	37	14	76548704	76548704	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76548704C>A	ENST00000314067.6	+	6	396	c.362C>A	c.(361-363)cCt>cAt	p.P121H	IFT43_ENST00000238628.6_Missense_Mutation_p.P126H	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	121					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTGGCAGCCCCTCCCAGGTAG	0.458																																						ENST00000314067.6																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(361-363)cCt>cAt		intraflagellar transport 43 homolog (Chlamydomonas)							206.0	200.0	202.0					14																	76548704		2203	4300	6503	SO:0001583	missense	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76548704C>A	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.362C>A	14.37:g.76548704C>A	ENSP00000324177:p.Pro121His					IFT43_ENST00000238628.6_Missense_Mutation_p.P126H	p.P121H	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN			6	396	+			121					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.362C>A	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929565	0.73327	.	.	ENSG00000119650	ENST00000314067;ENST00000238628	T;T	0.53857	0.6;0.6	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81335	-0.0979	10	0.87932	D	0	-11.9543	18.4492	0.90697	0.0:1.0:0.0:0.0	.	121;126	Q96FT9;Q96FT9-2	IFT43_HUMAN;.	H	121;126	ENSP00000324177:P121H;ENSP00000238628:P126H	ENSP00000238628:P126H	P	+	2	0	IFT43	75618457	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	7.268000	0.78473	2.346000	0.79739	0.563000	0.77884	CCT		0.458	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		16	205	1	0	0.00400662	1	0.00423533	16	205				
MACF1	23499	broad.mit.edu	37	1	39895603	39895603	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39895603C>T	ENST00000372915.3	+	63	16768	c.16681C>T	c.(16681-16683)Cgg>Tgg	p.R5561W	MACF1_ENST00000567887.1_Missense_Mutation_p.R5702W|MACF1_ENST00000361689.2_Missense_Mutation_p.R3603W|MACF1_ENST00000317713.7_Missense_Mutation_p.R3603W|MACF1_ENST00000539005.1_Missense_Mutation_p.R3473W|MACF1_ENST00000564288.1_Missense_Mutation_p.R5665W|MACF1_ENST00000289893.4_Missense_Mutation_p.R4105W|MACF1_ENST00000545844.1_Missense_Mutation_p.R3603W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5561					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCAAGCCCGGCAGCTGGC	0.532																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16993-16995)Cgg>Tgg		microtubule-actin crosslinking factor 1							49.0	52.0	51.0					1																	39895603		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39895603C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16681C>T	1.37:g.39895603C>T	ENSP00000362006:p.Arg5561Trp					MACF1_ENST00000545844.1_Missense_Mutation_p.R3603W|MACF1_ENST00000289893.4_Missense_Mutation_p.R4105W|MACF1_ENST00000567887.1_Missense_Mutation_p.R5702W|MACF1_ENST00000372915.3_Missense_Mutation_p.R5561W|MACF1_ENST00000317713.7_Missense_Mutation_p.R3603W|MACF1_ENST00000361689.2_Missense_Mutation_p.R3603W|MACF1_ENST00000539005.1_Missense_Mutation_p.R3473W	p.R5665W			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		65	17770	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5670					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16993C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.638489|4.638489	0.87760|0.87760	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.62639	.|0.01;1.32;0.01;1.32;0.18;1.16	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.53938	.|D	.|0.000057	T|T	0.67277|0.67277	0.2876|0.2876	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74023	.|0.982;0.982;0.972	T|T	0.69548|0.69548	-0.5116|-0.5116	5|10	.|0.72032	.|D	.|0.01	.|.	13.8168|13.8168	0.63297|0.63297	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	.|5561;3603;3547	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	L|W	2606|3603;5561;3603;3603;3473;4105	.|ENSP00000439537:R3603W;ENSP00000362006:R5561W;ENSP00000354573:R3603W;ENSP00000313438:R3603W;ENSP00000444364:R3473W;ENSP00000289893:R4105W	.|ENSP00000289893:R4105W	P|R	+|+	2|1	0|2	MACF1|MACF1	39668190|39668190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	6.091000|6.091000	0.71406|0.71406	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CCG|CGG		0.532	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		13	29	0	0	0	1	0	13	29				
ABHD1	84696	broad.mit.edu	37	2	27351333	27351333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27351333C>T	ENST00000316470.4	+	2	253	c.139C>T	c.(139-141)Cag>Tag	p.Q47*		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	47						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGGGCCGCAGTTTCTGGC	0.567																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(139-141)Cag>Tag		abhydrolase domain containing 1							107.0	108.0	108.0					2																	27351333		2203	4300	6503	SO:0001587	stop_gained	84696					integral to membrane	carboxylesterase activity	g.chr2:27351333C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.139C>T	2.37:g.27351333C>T	ENSP00000326491:p.Gln47*						p.Q47*	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			2	253	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		47					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Nonsense_Mutation	SNP	ENST00000316470.4	37	c.139C>T	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148186	0.57151	.	.	ENSG00000143994	ENST00000316470	.	.	.	4.67	2.83	0.33086	.	0.606897	0.16406	N	0.215803	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.4319	5.5193	0.16923	0.2098:0.6887:0.0:0.1015	.	.	.	.	X	47	.	ENSP00000326491:Q47X	Q	+	1	0	ABHD1	27204837	0.004000	0.15560	0.242000	0.24170	0.733000	0.41908	0.433000	0.21477	0.552000	0.29026	0.561000	0.74099	CAG		0.567	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		7	72	0	0	0	1	0	7	72				
FCRLA	84824	broad.mit.edu	37	1	161681736	161681736	+	Missense_Mutation	SNP	C	C	T	rs140395904	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161681736C>T	ENST00000236938.6	+	4	805	c.563C>T	c.(562-564)gCg>gTg	p.A188V	FCRLA_ENST00000309691.6_Missense_Mutation_p.A82V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Missense_Mutation_p.A48V|FCRLA_ENST00000294796.4_Missense_Mutation_p.A37V|FCRLA_ENST00000540521.1_Missense_Mutation_p.A54V|FCRLA_ENST00000546024.1_Missense_Mutation_p.A99V|FCRLA_ENST00000367953.3_Missense_Mutation_p.A177V|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.A177V|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.A194V|FCRLA_ENST00000367949.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGTTTCCAGCGCCAATTCTC	0.522													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19229	0.0		0.0	False		,,,				2504	0.001					ENST00000540926.1																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(529-531)gCg>gTg		Fc receptor-like A		C	VAL/ALA,VAL/ALA,VAL/ALA,,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	160.0	190.0	180.0		581,296,161,,143,,563	1.6	0.9	1	dbSNP_134	180	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,intron,missense,intron,missense	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	64,64,64,,64,,64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,,probably-damaging,,probably-damaging	194/383,99/288,54/243,,48/237,,188/377	161681736	3,13003	2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681736C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.563C>T	1.37:g.161681736C>T	ENSP00000236938:p.Ala188Val					FCRLA_ENST00000540521.1_Missense_Mutation_p.A54V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.A99V|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.A177V|FCRLA_ENST00000367957.2_Missense_Mutation_p.A48V|FCRLA_ENST00000236938.6_Missense_Mutation_p.A188V|FCRLA_ENST00000367959.2_Missense_Mutation_p.A194V|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.A82V|FCRLA_ENST00000294796.4_Missense_Mutation_p.A37V	p.A177V			Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	823	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		171			Ig-like C2-type 2.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.530C>T	CCDS30926.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.05	1.821946	0.32237	4.54E-4	1.16E-4	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.57	1.62	0.23740	.	0.745856	0.11957	N	0.513174	T	0.07773	0.0195	M	0.79258	2.445	0.21697	N	0.99959	P;P;D;D;B	0.57257	0.951;0.508;0.979;0.977;0.123	B;B;P;B;B	0.46049	0.312;0.111;0.502;0.371;0.04	T	0.19484	-1.0304	10	0.34782	T	0.22	.	4.7996	0.13290	0.1484:0.611:0.0:0.2406	.	54;48;99;194;188	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	V	188;194;99;54;177;48;82;37;177	ENSP00000236938:A188V;ENSP00000356936:A194V;ENSP00000439838:A99V;ENSP00000442870:A54V;ENSP00000446380:A177V;ENSP00000356934:A48V;ENSP00000309596:A82V;ENSP00000294796:A37V;ENSP00000356930:A177V	ENSP00000236938:A188V	A	+	2	0	FCRLA	159948360	0.000000	0.05858	0.889000	0.34880	0.461000	0.32589	0.090000	0.15025	0.049000	0.15920	-0.952000	0.02654	GCG		0.522	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		111	225	0	0	0	1	0	111	225				
KREMEN1	83999	broad.mit.edu	37	22	29533483	29533483	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29533483A>G	ENST00000407188.1	+	6	779	c.779A>G	c.(778-780)gAc>gGc	p.D260G	KREMEN1_ENST00000400335.4_Missense_Mutation_p.D262G|KREMEN1_ENST00000400338.2_Missense_Mutation_p.D262G|KREMEN1_ENST00000327813.5_Missense_Mutation_p.D262G			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	260	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCCTATTTGACATCAGGGAC	0.632																																						ENST00000400338.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						c.(784-786)gAc>gGc		kringle containing transmembrane protein 1							68.0	68.0	68.0					22																	29533483		1932	4118	6050	SO:0001583	missense	0				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29533483A>G	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.779A>G	22.37:g.29533483A>G	ENSP00000385431:p.Asp260Gly					KREMEN1_ENST00000407188.1_Missense_Mutation_p.D260G|KREMEN1_ENST00000400335.4_Missense_Mutation_p.D262G|KREMEN1_ENST00000327813.5_Missense_Mutation_p.D262G	p.D262G			Q96MU8	KREM1_HUMAN			6	838	+			260			CUB.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.785A>G	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145454	0.77888	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.99	4.99	0.66335	CUB (5);	0.085006	0.48286	D	0.000189	T	0.45836	0.1362	M	0.85462	2.755	0.48975	D	0.999735	D;P;P	0.61080	0.989;0.873;0.939	P;B;P	0.59703	0.862;0.385;0.634	T	0.53464	-0.8435	10	0.72032	D	0.01	.	12.9426	0.58354	1.0:0.0:0.0:0.0	.	260;262;262	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	G	262;262;262;260	ENSP00000383189:D262G;ENSP00000383192:D262G;ENSP00000331242:D262G;ENSP00000385431:D260G	ENSP00000331242:D262G	D	+	2	0	KREMEN1	27863483	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.826000	0.75298	2.030000	0.59900	0.482000	0.46254	GAC		0.632	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			7	69	0	0	0	1	0	7	69				
MARCKSL1	65108	broad.mit.edu	37	1	32800436	32800436	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32800436G>T	ENST00000329421.7	-	2	695	c.350C>A	c.(349-351)tCt>tAt	p.S117Y		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	117					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAGGAGGCAGAAGAATCACC	0.572																																						ENST00000329421.7																			0				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(349-351)tCt>tAt		MARCKS-like 1							48.0	46.0	47.0					1																	32800436		2203	4300	6503	SO:0001583	missense	65108					plasma membrane	calmodulin binding	g.chr1:32800436G>T	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.350C>A	1.37:g.32800436G>T	ENSP00000362638:p.Ser117Tyr						p.S117Y	NM_023009.6	NP_075385.1	P49006	MRP_HUMAN			2	695	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	117					D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	c.350C>A	CCDS361.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539160	0.65085	.	.	ENSG00000175130	ENST00000329421	T	0.30448	1.53	5.17	4.26	0.50523	.	0.130408	0.49916	D	0.000138	T	0.31389	0.0795	N	0.08118	0	0.30160	N	0.802256	D	0.65815	0.995	D	0.63597	0.916	T	0.26815	-1.0092	10	0.72032	D	0.01	-4.1416	11.8477	0.52393	0.0822:0.0:0.9178:0.0	.	117	P49006	MRP_HUMAN	Y	117	ENSP00000362638:S117Y	ENSP00000362638:S117Y	S	-	2	0	MARCKSL1	32573023	0.940000	0.31905	0.355000	0.25773	0.997000	0.91878	3.602000	0.54066	1.333000	0.45449	0.561000	0.74099	TCT		0.572	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		13	23	1	0	1.52009e-12	1	1.91418e-12	13	23				
IPO4	79711	broad.mit.edu	37	14	24656974	24656974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24656974G>A	ENST00000354464.6	-	5	483	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	103					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GTGGCTGAGAGCTGGGCCAGG	0.572																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(307-309)Ctc>Ttc		importin 4							39.0	44.0	42.0					14																	24656974		2041	4199	6240	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656974G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.307C>T	14.37:g.24656974G>A	ENSP00000346453:p.Leu103Phe					RP11-468E2.2_ENST00000561419.1_3'UTR	p.L103F	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	5	483	-			103					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.307C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917413	0.52546	.	.	ENSG00000196497	ENST00000354464	T	0.05925	3.37	5.38	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.07908	0.0198	L	0.48642	1.525	0.48511	D	0.999667	P	0.41710	0.76	B	0.44163	0.443	T	0.11665	-1.0578	10	0.30854	T	0.27	-19.8305	8.1403	0.31080	0.108:0.0:0.892:0.0	.	103	Q8TEX9	IPO4_HUMAN	F	103	ENSP00000346453:L103F	ENSP00000346453:L103F	L	-	1	0	IPO4	23726814	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	4.132000	0.57977	2.793000	0.96121	0.655000	0.94253	CTC		0.572	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		17	31	0	0	0	1	0	17	31				
SETX	23064	broad.mit.edu	37	9	135204624	135204624	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135204624G>T	ENST00000224140.5	-	10	2543	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	SETX_ENST00000393220.1_Silent_p.I787I|SETX_ENST00000372169.2_Silent_p.I787I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	787					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTTTGCACAGATTTCATCTT	0.328																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2359-2361)atC>atA		senataxin							84.0	80.0	81.0					9																	135204624		2203	4299	6502	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204624G>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2361C>A	9.37:g.135204624G>T						SETX_ENST00000224140.5_Silent_p.I787I|SETX_ENST00000393220.1_Silent_p.I787I	p.I787I			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2543	-		Myeloproliferative disorder(178;0.204)	787					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.2361C>A	CCDS6947.1																																																																																				0.328	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	74	1	0	2.0095e-06	1	2.31757e-06	7	74				
ARMC4	55130	broad.mit.edu	37	10	28196637	28196637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28196637C>T	ENST00000305242.5	-	17	2657	c.2565G>A	c.(2563-2565)aaG>aaA	p.K855K	ARMC4_ENST00000545014.1_Silent_p.K380K|ARMC4_ENST00000537576.1_Silent_p.K547K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	855					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCGCTGGCCTTCACGTCTG	0.433																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2563-2565)aaG>aaA		armadillo repeat containing 4							118.0	104.0	109.0					10																	28196637		2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28196637C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2565G>A	10.37:g.28196637C>T						ARMC4_ENST00000537576.1_Silent_p.K547K|ARMC4_ENST00000545014.1_Silent_p.K380K	p.K855K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			17	2657	-			855					A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.2565G>A	CCDS7157.1																																																																																				0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		24	44	0	0	0	1	0	24	44				
POLE	5426	broad.mit.edu	37	12	133226432	133226432	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133226432G>T	ENST00000320574.5	-	30	3669	c.3626C>A	c.(3625-3627)gCt>gAt	p.A1209D	POLE_ENST00000535270.1_Missense_Mutation_p.A1182D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1209					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CATGTCAGGAGCACTTGGCCT	0.597								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3625-3627)gCt>gAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							53.0	48.0	50.0					12																	133226432		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133226432G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3626C>A	12.37:g.133226432G>T	ENSP00000322570:p.Ala1209Asp					POLE_ENST00000535270.1_Missense_Mutation_p.A1182D	p.A1209D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	30	3669	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1209					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3626C>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	g	12.30	1.896921	0.33535	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000503265	T;T;T;T	0.14766	4.14;4.14;4.14;2.48	5.89	2.51	0.30379	.	1.241510	0.05026	N	0.473635	T	0.15262	0.0368	L	0.43923	1.385	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.31971	-0.9924	10	0.72032	D	0.01	.	9.1508	0.36962	0.3649:0.0:0.6351:0.0	.	1182;1209	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1209;1220;1182;989;186;13	ENSP00000322570:A1209D;ENSP00000406383:A1220D;ENSP00000445753:A1182D;ENSP00000442519:A989D	ENSP00000322570:A1209D	A	-	2	0	POLE	131736505	0.054000	0.20591	0.005000	0.12908	0.022000	0.10575	2.575000	0.46025	0.775000	0.33450	-0.387000	0.06579	GCT		0.597	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		14	20	1	0	4.3838e-07	1	5.12524e-07	14	20				
MYH2	4620	broad.mit.edu	37	17	10451166	10451166	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10451166G>A	ENST00000245503.5	-	3	456	c.72C>T	c.(70-72)cgC>cgT	p.R24R	MYH2_ENST00000397183.2_Silent_p.R24R|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.R24R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	24					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCCTCAATGCGCTCCCTTT	0.512																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(70-72)cgC>cgT		myosin, heavy chain 2, skeletal muscle, adult							80.0	75.0	77.0					17																	10451166		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10451166G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.72C>T	17.37:g.10451166G>A						MYH2_ENST00000397183.2_Silent_p.R24R|MYH2_ENST00000532183.1_Silent_p.R24R|CTC-297N7.7_ENST00000587182.1_RNA	p.R24R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			3	456	-			24			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.72C>T	CCDS11156.1																																																																																				0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		6	54	0	0	0	1	0	6	54				
GSTA4	2941	broad.mit.edu	37	6	52849275	52849275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52849275G>A	ENST00000370959.1	-	5	518	c.401C>T	c.(400-402)cCt>cTt	p.P134L	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_Missense_Mutation_p.P41L|GSTA4_ENST00000370960.1_Missense_Mutation_p.P41L			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	134	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TTCAAACACAGGAAAGTATCT	0.433																																						ENST00000541324.1																			0				endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7						c.(121-123)cCt>cTt		glutathione S-transferase alpha 4	Glutathione(DB00143)						119.0	105.0	110.0					6																	52849275		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52849275G>A	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.401C>T	6.37:g.52849275G>A	ENSP00000359998:p.Pro134Leu					GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370959.1_Missense_Mutation_p.P134L|GSTA4_ENST00000370960.1_Missense_Mutation_p.P41L	p.P41L			O15217	GSTA4_HUMAN			3	387	-	Lung NSC(77;0.103)		134			GST N-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.122C>T	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321633	0.81580	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.0	4.11	0.48088	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.84219	2.685	0.80722	D	1	D	0.57571	0.98	P	0.52758	0.708	T	0.48614	-0.9020	10	0.72032	D	0.01	-17.9353	13.9646	0.64200	0.0789:0.0:0.9211:0.0	.	134	O15217	GSTA4_HUMAN	L	134;41;41;134;41	ENSP00000360002:P134L;ENSP00000439439:P41L;ENSP00000359999:P41L;ENSP00000359998:P134L;ENSP00000394228:P41L	ENSP00000359998:P134L	P	-	2	0	GSTA4	52957234	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.826000	0.62715	2.467000	0.83353	0.557000	0.71058	CCT		0.433	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		29	58	0	0	0	1	0	29	58				
ITGA6	3655	broad.mit.edu	37	2	173337563	173337563	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173337563G>A	ENST00000264106.6	+	6	1040	c.837G>A	c.(835-837)cgG>cgA	p.R279R	ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000375221.2_Silent_p.R279R|ITGA6_ENST00000343713.4_Silent_p.R235R|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409532.1_Silent_p.R121R			P23229	ITA6_HUMAN	integrin, alpha 6	279					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATAAAACACGGCCTCCCCGGG	0.468																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(835-837)cgG>cgA		integrin, alpha 6							157.0	150.0	152.0					2																	173337563		876	1991	2867	SO:0001819	synonymous_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173337563G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.837G>A	2.37:g.173337563G>A						ITGA6_ENST00000264106.6_Silent_p.R279R|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409532.1_Silent_p.R121R|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000343713.4_Silent_p.R235R	p.R279R			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		6	1040	+			279					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.837G>A																																																																																					0.468	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				31	77	0	0	0	1	0	31	77				
PGBD2	267002	broad.mit.edu	37	1	249212402	249212402	+	Missense_Mutation	SNP	G	G	A	rs139567720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249212402G>A	ENST00000329291.5	+	3	1766	c.1619G>A	c.(1618-1620)cGg>cAg	p.R540Q	PGBD2_ENST00000355360.4_Missense_Mutation_p.R289Q|PGBD2_ENST00000539153.1_Missense_Mutation_p.R537Q	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	540										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CGAAGCAGGCGGTTGGAGACT	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		18756	0.0		0.0	False		,,,				2504	0.001					ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(865-867)cGg>cAg		piggyBac transposable element derived 2		G	GLN/ARG,GLN/ARG	1,4405		0,1,2202	89.0	89.0	89.0		866,1619	1.3	0.0	1	dbSNP_134	89	0,8600		0,0,4300	yes	missense,missense	PGBD2	NM_001017434.1,NM_170725.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	289/342,540/593	249212402	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr1:249212402G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1619G>A	1.37:g.249212402G>A	ENSP00000331643:p.Arg540Gln					PGBD2_ENST00000329291.5_Missense_Mutation_p.R540Q|PGBD2_ENST00000539153.1_Missense_Mutation_p.R537Q	p.R289Q	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1136	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	540					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.866G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	7.910	0.736312	0.15574	2.27E-4	0.0	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.84298	-1.83;-1.83;-1.83	3.22	1.32	0.21799	.	0.566116	0.13915	N	0.353942	T	0.72447	0.3461	N	0.14661	0.345	0.09310	N	1	D;B	0.56035	0.974;0.297	P;B	0.48166	0.569;0.017	T	0.62671	-0.6805	10	0.15952	T	0.53	.	5.4489	0.16552	0.2643:0.0:0.7357:0.0	.	537;540	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	Q	289;540;537	ENSP00000355424:R289Q;ENSP00000331643:R540Q;ENSP00000439950:R537Q	ENSP00000331643:R540Q	R	+	2	0	PGBD2	247179025	0.992000	0.36948	0.011000	0.14972	0.005000	0.04900	2.419000	0.44671	0.374000	0.24650	-0.218000	0.12543	CGG		0.562	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			37	53	0	0	0	1	0	37	53				
PLK1	5347	broad.mit.edu	37	16	23702331	23702331	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702331G>A	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Nonsense_Mutation_p.R916*|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000457008.2_Nonsense_Mutation_p.R816*	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AGTGCCTGTCGCACCTCAACT	0.632																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2746-2748)Cga>Tga		endoplasmic reticulum to nucleus signaling 2							91.0	87.0	88.0					16																	23702331		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702331G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702331G>A						ERN2_ENST00000457008.2_Nonsense_Mutation_p.R816*	p.R916*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	2914	-			868					Q15153|Q99746	Nonsense_Mutation	SNP	ENST00000300093.4	37	c.2746C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962716	0.92791	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	.	.	.	5.22	4.21	0.49690	.	0.503512	0.22422	N	0.060271	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5295	0.61613	0.0:0.0:0.844:0.156	.	.	.	.	X	916;816	.	ENSP00000256797:R916X	R	-	1	2	ERN2	23609832	0.999000	0.42202	0.007000	0.13788	0.093000	0.18481	7.654000	0.83653	2.594000	0.87642	0.561000	0.74099	CGA		0.632	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		4	55	0	0	0	1	0	4	55				
MIB2	142678	broad.mit.edu	37	1	1558852	1558852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1558852C>T	ENST00000357210.4	+	3	410	c.194C>T	c.(193-195)gCg>gTg	p.A65V	MIB2_ENST00000378710.3_Missense_Mutation_p.A65V|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000504599.1_Missense_Mutation_p.A21V|MIB2_ENST00000520777.1_Missense_Mutation_p.A122V|MIB2_ENST00000378708.1_Missense_Mutation_p.A7V|MIB2_ENST00000518681.1_Missense_Mutation_p.A122V|MIB2_ENST00000378712.1_Missense_Mutation_p.A7V|MIB2_ENST00000505820.2_Missense_Mutation_p.A122V|MIB2_ENST00000355826.5_Missense_Mutation_p.A108V|MIB2_ENST00000360522.4_Missense_Mutation_p.A65V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	65	MIB/HERC2 1. {ECO:0000255|PROSITE- ProRule:PRU00749}.				Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACCCCCAGGCGGGCGTGCAG	0.736																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(193-195)gCg>gTg		mindbomb E3 ubiquitin protein ligase 2							8.0	12.0	11.0					1																	1558852		1918	4075	5993	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1558852C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.194C>T	1.37:g.1558852C>T	ENSP00000349741:p.Ala65Val					MIB2_ENST00000504599.1_Missense_Mutation_p.A21V|MIB2_ENST00000355826.5_Missense_Mutation_p.A108V|MIB2_ENST00000378712.1_Missense_Mutation_p.A7V|MIB2_ENST00000520777.1_Missense_Mutation_p.A122V|MIB2_ENST00000378708.1_Missense_Mutation_p.A7V|MIB2_ENST00000378710.3_Missense_Mutation_p.A65V|MIB2_ENST00000360522.4_Missense_Mutation_p.A65V|MIB2_ENST00000518681.1_Missense_Mutation_p.A122V|MIB2_ENST00000505820.2_Missense_Mutation_p.A122V|MIB2_ENST00000512004.1_3'UTR	p.A65V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	410	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	65			MIB/HERC2 1.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.194C>T		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195574	0.38806	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000510793;ENST00000504599;ENST00000503789;ENST00000378708	T;T;T;T;T;T;T;T;T;T;T;T	0.67171	1.18;1.21;1.2;1.21;1.1;1.22;1.18;-0.25;0.85;1.21;0.9;1.26	3.58	2.65	0.31530	Mib-herc2 (1);	0.070015	0.56097	D	0.000021	T	0.78898	0.4356	M	0.76328	2.33	0.41784	D	0.989839	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.77557	0.99;0.906;0.928;0.981;0.928	T	0.79969	-0.1579	10	0.72032	D	0.01	-11.8777	11.2412	0.48970	0.1845:0.8155:0.0:0.0	.	7;122;122;51;65	B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;MIB2_HUMAN	V	122;65;65;65;108;122;122;7;7;21;7;7	ENSP00000428660:A122V;ENSP00000349741:A65V;ENSP00000353713:A65V;ENSP00000367982:A65V;ENSP00000348081:A108V;ENSP00000428264:A122V;ENSP00000426103:A122V;ENSP00000367984:A7V;ENSP00000426865:A7V;ENSP00000426128:A21V;ENSP00000426603:A7V;ENSP00000367980:A7V	ENSP00000348081:A108V	A	+	2	0	MIB2	1548715	0.994000	0.37717	0.436000	0.26797	0.612000	0.37316	3.471000	0.53107	0.672000	0.31204	-0.347000	0.07816	GCG		0.736	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		4	9	0	0	0	1	0	4	9				
NFIB	4781	broad.mit.edu	37	9	14307196	14307196	+	Silent	SNP	G	G	A	rs563322451		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14307196G>A	ENST00000380959.3	-	2	827	c.354C>T	c.(352-354)atC>atT	p.I118I	NFIB_ENST00000380921.3_Silent_p.I118I|NFIB_ENST00000380934.4_Silent_p.I144I|NFIB_ENST00000380953.1_Silent_p.I118I|NFIB_ENST00000397579.2_Silent_p.I118I|NFIB_ENST00000397581.2_Silent_p.I118I|NFIB_ENST00000397575.3_Silent_p.I118I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	118					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCAGGCAGTCGATTCTCCTAA	0.537			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		20197	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(352-354)atC>atT		nuclear factor I/B							113.0	118.0	116.0					9																	14307196		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307196G>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.354C>T	9.37:g.14307196G>A						NFIB_ENST00000397579.2_Silent_p.I118I|NFIB_ENST00000397575.3_Silent_p.I118I|NFIB_ENST00000397581.2_Silent_p.I118I|NFIB_ENST00000380934.4_Silent_p.I144I|NFIB_ENST00000380953.1_Silent_p.I118I|NFIB_ENST00000380921.3_Silent_p.I118I	p.I118I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	827	-			118					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.354C>T	CCDS6474.1																																																																																				0.537	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		4	83	0	0	0	1	0	4	83				
MOGS	7841	broad.mit.edu	37	2	74688581	74688581	+	Missense_Mutation	SNP	G	G	A	rs558187098	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74688581G>A	ENST00000233616.4	-	4	2497	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.R673W|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	779					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTGGCAGCCCGAGCCTGGTGA	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2335-2337)Cgg>Tgg		mannosyl-oligosaccharide glucosidase							77.0	84.0	82.0					2																	74688581		2076	4204	6280	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688581G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2335C>T	2.37:g.74688581G>A	ENSP00000233616:p.Arg779Trp					MOGS_ENST00000452063.2_Missense_Mutation_p.R673W|MOGS_ENST00000409065.1_3'UTR	p.R779W	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2497	-			779					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.2335C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489065	0.44249	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.39056	1.1;1.1	4.48	2.55	0.30701	Six-hairpin glycosidase-like (1);	0.330198	0.30732	N	0.008995	T	0.46034	0.1372	M	0.69523	2.12	0.28693	N	0.904469	D	0.60575	0.988	P	0.47206	0.541	T	0.49744	-0.8907	10	0.72032	D	0.01	-4.8716	10.4121	0.44301	0.0:0.0:0.4385:0.5615	.	779	Q13724	MOGS_HUMAN	W	779;673	ENSP00000233616:R779W;ENSP00000388201:R673W	ENSP00000233616:R779W	R	-	1	2	MOGS	74542089	0.990000	0.36364	0.842000	0.33263	0.886000	0.51366	2.622000	0.46427	0.540000	0.28808	0.563000	0.77884	CGG		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		28	50	0	0	0	1	0	28	50				
ZNF577	84765	broad.mit.edu	37	19	52376920	52376920	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376920G>T	ENST00000301399.5	-	7	688	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAATGCATCAGAATCTTTTCC	0.378																																						ENST00000301399.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(322-324)tCt>tAt		zinc finger protein 577							63.0	57.0	59.0					19																	52376920		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376920G>T	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.323C>A	19.37:g.52376920G>T	ENSP00000301399:p.Ser108Tyr					ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Intron	p.S108Y	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	688	-		all_neural(266;0.0602)	108					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.323C>A	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	0.399	-0.919574	0.02396	.	.	ENSG00000161551	ENST00000301399;ENST00000458390	T;T	0.07216	3.22;3.21	2.68	-0.977	0.10282	.	.	.	.	.	T	0.07413	0.0187	M	0.75615	2.305	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.49960	-0.8883	9	0.02654	T	1	.	3.3884	0.07280	0.1059:0.1686:0.5524:0.1731	.	108	Q9BSK1	ZN577_HUMAN	Y	108	ENSP00000301399:S108Y;ENSP00000404509:S108Y	ENSP00000301399:S108Y	S	-	2	0	ZNF577	57068732	0.077000	0.21312	0.000000	0.03702	0.062000	0.15995	2.858000	0.48356	-0.113000	0.11958	-0.518000	0.04402	TCT		0.378	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		9	53	1	0	3.09899e-07	1	3.63227e-07	9	53				
DEF6	50619	broad.mit.edu	37	6	35278292	35278292	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35278292G>A	ENST00000316637.5	+	3	299	c.294G>A	c.(292-294)acG>acA	p.T98T	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	98						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGACGCTGACGGCCAAGAAGA	0.537																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(292-294)acG>acA		differentially expressed in FDCP 6 homolog (mouse)							167.0	140.0	149.0					6																	35278292		2203	4300	6503	SO:0001819	synonymous_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35278292G>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.294G>A	6.37:g.35278292G>A						DEF6_ENST00000542066.1_5'UTR	p.T98T	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			3	299	+			98					Q86VF4	Silent	SNP	ENST00000316637.5	37	c.294G>A	CCDS4802.1																																																																																				0.537	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		38	37	0	0	0	1	0	38	37				
NUP188	23511	broad.mit.edu	37	9	131744902	131744902	+	Missense_Mutation	SNP	C	C	T	rs377536629		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131744902C>T	ENST00000372577.2	+	16	1612	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	531					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATACCTGGTACGCTGGGAATA	0.463																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1591-1593)Cgc>Tgc		nucleoporin 188kDa		C	CYS/ARG	0,4406		0,0,2203	149.0	122.0	131.0		1591	5.7	1.0	9		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP188	NM_015354.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	531/1750	131744902	1,13005	2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131744902C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1591C>T	9.37:g.131744902C>T	ENSP00000361658:p.Arg531Cys						p.R531C	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			16	1612	+			531					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1591C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029262	0.93518	0.0	1.16E-4	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35789	1.29	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51309	-0.8722	10	0.66056	D	0.02	-12.8572	18.8346	0.92157	0.0:1.0:0.0:0.0	.	531	Q5SRE5	NU188_HUMAN	C	420;531	ENSP00000361658:R531C	ENSP00000349125:R420C	R	+	1	0	NUP188	130784723	1.000000	0.71417	0.963000	0.40424	0.914000	0.54420	5.461000	0.66699	2.710000	0.92621	0.491000	0.48974	CGC		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			28	41	0	0	0	1	0	28	41				
MOGAT2	80168	broad.mit.edu	37	11	75439997	75439997	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75439997T>C	ENST00000198801.5	+	5	883	c.813T>C	c.(811-813)ttT>ttC	p.F271F	MOGAT2_ENST00000526712.1_Silent_p.F189F	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	271					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGTACAGCTTTGGTTTAATAC	0.562																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(565-567)ttT>ttC		monoacylglycerol O-acyltransferase 2							155.0	131.0	139.0					11																	75439997		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439997T>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.813T>C	11.37:g.75439997T>C						MOGAT2_ENST00000198801.5_Silent_p.F271F	p.F189F			Q3SYC2	MOGT2_HUMAN			4	1340	+	Ovarian(111;0.103)		271					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.567T>C	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		5	69	0	0	0	1	0	5	69				
SMARCE1	6605	broad.mit.edu	37	17	38786991	38786991	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38786991G>A	ENST00000348513.6	-	10	1782	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	SMARCE1_ENST00000377808.4_Silent_p.D299D|SMARCE1_ENST00000400122.3_Silent_p.D264D|SMARCE1_ENST00000431889.2_Silent_p.D316D|SMARCE1_ENST00000544009.1_Silent_p.D264D|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Silent_p.D299D|SMARCE1_ENST00000578044.1_Silent_p.D264D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	334	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGTTCTCGTCGTCTTTCTTCT	0.498																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(1000-1002)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							395.0	307.0	337.0					17																	38786991		2203	4300	6503	SO:0001819	synonymous_variant	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38786991G>A	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1002C>T	17.37:g.38786991G>A						SMARCE1_ENST00000377808.4_Silent_p.D299D|SMARCE1_ENST00000431889.2_Silent_p.D316D|SMARCE1_ENST00000400122.3_Silent_p.D264D|SMARCE1_ENST00000544009.1_Silent_p.D264D|SMARCE1_ENST00000578044.1_Silent_p.D264D|SMARCE1_ENST00000580419.1_Silent_p.D299D|KRT222_ENST00000476049.1_3'UTR	p.D334D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			10	1782	-		Breast(137;0.000812)	334			Glu-rich.		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Silent	SNP	ENST00000348513.6	37	c.1002C>T	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.667|9.667	1.145632|1.145632	0.21288|0.21288	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000264640|ENST00000400122	.|.	.|.	.|.	5.35|5.35	-8.47|-8.47	0.00939|0.00939	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31702	.|0.0805	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40194	.|-0.9576	.|4	.|.	.|.	.|.	.|.	0.3405|0.3405	0.00332|0.00332	0.3177:0.1972:0.2768:0.2083|0.3177:0.1972:0.2768:0.2083	.|.	.|.	.|.	.|.	X|M	148|160	.|.	.|.	R|T	-|-	1|2	2|0	SMARCE1|SMARCE1	36040517|36040517	0.468000|0.468000	0.25839|0.25839	0.042000|0.042000	0.18584|0.18584	0.328000|0.328000	0.28507|0.28507	-0.417000|-0.417000	0.07088|0.07088	-1.632000|-1.632000	0.01541|0.01541	-0.291000|-0.291000	0.09656|0.09656	CGA|ACG		0.498	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		70	153	0	0	0	1	0	70	153				
C5orf51	285636	broad.mit.edu	37	5	41904531	41904531	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41904531C>T	ENST00000381647.2	+	1	81	c.62C>T	c.(61-63)gCc>gTc	p.A21V	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	21										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGCTCAGGCCCACATACAG	0.657																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(61-63)gCc>gTc		chromosome 5 open reading frame 51							42.0	40.0	41.0					5																	41904531		2203	4300	6503	SO:0001583	missense	285636							g.chr5:41904531C>T	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.62C>T	5.37:g.41904531C>T	ENSP00000371061:p.Ala21Val					C5orf51_ENST00000505931.2_Intron	p.A21V	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			1	81	+			21					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.62C>T	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220430	0.95139	.	.	ENSG00000205765	ENST00000381647	T	0.36340	1.26	4.99	4.99	0.66335	.	0.123910	0.53938	D	0.000051	T	0.43942	0.1270	N	0.19112	0.55	0.41967	D	0.990733	D	0.67145	0.996	D	0.77557	0.99	T	0.36648	-0.9739	10	0.49607	T	0.09	.	13.9642	0.64199	0.0:1.0:0.0:0.0	.	21	A6NDU8	CE051_HUMAN	V	21	ENSP00000371061:A21V	ENSP00000371061:A21V	A	+	2	0	C5orf51	41940288	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.128000	0.50492	2.756000	0.94617	0.561000	0.74099	GCC		0.657	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		8	8	0	0	0	1	0	8	8				
GRIK3	2899	broad.mit.edu	37	1	37315910	37315910	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37315910A>G	ENST00000373091.3	-	9	1343		c.e9+1		GRIK3_ENST00000373093.4_Splice_Site|GRIK3_ENST00000462621.1_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCAGGCTCTTACCAGCACTGT	0.612																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.e9+1		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						118.0	99.0	106.0					1																	37315910		2203	4300	6503	SO:0001630	splice_region_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37315910A>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1326+1T>C	1.37:g.37315910A>G						GRIK3_ENST00000462621.1_Splice_Site|GRIK3_ENST00000373093.4_Splice_Site		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			9	1343	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)						A9Z1Z8|B1AMS6|Q13004|Q16136	Splice_Site	SNP	ENST00000373091.3	37		CCDS416.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558367	0.86231	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7583	0.78054	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK3	37088497	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.116000	0.64780	0.454000	0.30748	.		0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	Intron	3	60	0	0	0	1	0	3	60				
MAP1A	4130	broad.mit.edu	37	15	43821341	43821341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43821341G>A	ENST00000300231.5	+	4	8120	c.7670G>A	c.(7669-7671)gGc>gAc	p.G2557D	MAP1A_ENST00000382031.1_Missense_Mutation_p.G2795D|MAP1A_ENST00000399453.1_Missense_Mutation_p.G2557D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2557					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCAGGCCTGGCCATGACCCA	0.637																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8383-8385)gGc>gAc		microtubule-associated protein 1A	Estramustine(DB01196)						46.0	50.0	48.0					15																	43821341		1965	4138	6103	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821341G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7670G>A	15.37:g.43821341G>A	ENSP00000300231:p.Gly2557Asp					MAP1A_ENST00000399453.1_Missense_Mutation_p.G2557D|MAP1A_ENST00000300231.5_Missense_Mutation_p.G2557D	p.G2795D			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8415	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2557					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8384G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197679	0.38806	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01379	4.96;4.96;4.96	5.14	3.19	0.36642	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.31361	N	0.681418	B	0.28850	0.225	B	0.20955	0.032	T	0.35724	-0.9777	9	0.27082	T	0.32	-16.1459	12.9194	0.58224	0.0:0.1228:0.7507:0.1265	.	2557	P78559	MAP1A_HUMAN	D	2795;2557;2557	ENSP00000371462:G2795D;ENSP00000382380:G2557D;ENSP00000300231:G2557D	ENSP00000300231:G2557D	G	+	2	0	MAP1A	41608633	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.633000	0.37113	2.660000	0.90430	0.462000	0.41574	GGC		0.637	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		19	21	0	0	0	1	0	19	21				
AZIN2	113451	broad.mit.edu	37	1	33549655	33549655	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33549655T>C	ENST00000294517.6	+	5	793	c.206T>C	c.(205-207)gTc>gCc	p.V69A	ADC_ENST00000358680.3_Missense_Mutation_p.V69A|ADC_ENST00000373441.1_Missense_Mutation_p.V69A|ADC_ENST00000398167.1_Missense_Mutation_p.V69A|ADC_ENST00000373440.1_Missense_Mutation_p.V69A|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.V69A	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		69					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TTTTATGCTGTCAAGTGCAAC	0.592																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(205-207)gTc>gCc		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						83.0	74.0	77.0					1																	33549655		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33549655T>C																												ENST00000294517.6:c.206T>C	1.37:g.33549655T>C	ENSP00000294517:p.Val69Ala					ADC_ENST00000358680.3_Missense_Mutation_p.V69A|ADC_ENST00000398167.1_Missense_Mutation_p.V69A|ADC_ENST00000373440.1_Missense_Mutation_p.V69A|ADC_ENST00000373441.1_Missense_Mutation_p.V69A|ADC_ENST00000373443.3_Missense_Mutation_p.V69A|ADC_ENST00000484656.1_3'UTR	p.V69A	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			5	793	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	69					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.206T>C	CCDS375.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768436	0.90020	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000358680;ENST00000373443;ENST00000398167;ENST00000373440;ENST00000373441	T;T;T;T;T;T	0.58210	0.35;0.42;0.35;0.43;0.42;0.43	4.84	4.84	0.62591	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.77308	0.4111	M	0.92367	3.3	0.49483	D	0.999794	D;D;D;D	0.69078	0.992;0.997;0.996;0.997	P;P;P;D	0.67103	0.874;0.894;0.813;0.949	D	0.83801	0.0236	10	0.87932	D	0	-31.863	14.3881	0.66961	0.0:0.0:0.0:1.0	.	69;69;69;69	Q96A70-2;Q96A70-5;Q96A70-3;Q96A70	.;.;.;ADC_HUMAN	A	69	ENSP00000294517:V69A;ENSP00000351508:V69A;ENSP00000362542:V69A;ENSP00000381233:V69A;ENSP00000362539:V69A;ENSP00000362540:V69A	ENSP00000294517:V69A	V	+	2	0	ADC	33322242	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	7.912000	0.87465	1.942000	0.56320	0.455000	0.32223	GTC		0.592	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			6	59	0	0	0	1	0	6	59				
GAB3	139716	broad.mit.edu	37	X	153940612	153940612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940612G>A	ENST00000369575.3	-	4	989	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	GAB3_ENST00000424127.2_Missense_Mutation_p.R321W|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	320					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCGCCGTTCAGACAGA	0.493																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(958-960)Cgg>Tgg		GRB2-associated binding protein 3							117.0	108.0	111.0					X																	153940612		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153940612G>A	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.958C>T	X.37:g.153940612G>A	ENSP00000358588:p.Arg320Trp					GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.R321W	p.R320W	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			4	989	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		320					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.958C>T	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707804	0.30322	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.21932	1.98;1.98;1.98	5.63	3.87	0.44632	.	0.377447	0.30085	N	0.010451	T	0.20659	0.0497	M	0.72118	2.19	0.24698	N	0.993278	B;B;B	0.22541	0.071;0.071;0.071	B;B;B	0.10450	0.005;0.005;0.005	T	0.23404	-1.0189	10	0.37606	T	0.19	-20.5117	5.5142	0.16898	0.1823:0.1598:0.6579:0.0	.	321;321;320	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	W	320;321;321	ENSP00000358588:R320W;ENSP00000358581:R321W;ENSP00000399588:R321W	ENSP00000358581:R321W	R	-	1	2	GAB3	153593806	0.766000	0.28496	0.096000	0.21009	0.723000	0.41478	1.229000	0.32600	0.543000	0.28864	0.506000	0.49869	CGG		0.493	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		53	85	0	0	0	1	0	53	85				
GABRA4	2557	broad.mit.edu	37	4	46994913	46994913	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46994913T>C	ENST00000264318.3	-	2	1119	c.137A>G	c.(136-138)gAa>gGa	p.E46G	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	46					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTGAAATTTTCTGTGCACAA	0.458																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(136-138)gAa>gGa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						138.0	129.0	132.0					4																	46994913		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46994913T>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.137A>G	4.37:g.46994913T>C	ENSP00000264318:p.Glu46Gly					GABRA4_ENST00000509316.1_5'UTR	p.E46G	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			2	1119	-			46					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.137A>G	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349688	0.82132	.	.	ENSG00000109158	ENST00000264318	D	0.81579	-1.51	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel ligand-binding (1);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	L	0.27053	0.805	0.52099	D	0.99994	P	0.51791	0.948	P	0.54965	0.765	T	0.72707	-0.4212	10	0.14252	T	0.57	.	11.911	0.52739	0.0:0.0:0.0:1.0	.	46	P48169	GBRA4_HUMAN	G	46	ENSP00000264318:E46G	ENSP00000264318:E46G	E	-	2	0	GABRA4	46689670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.900000	0.75687	2.070000	0.61991	0.377000	0.23210	GAA		0.458	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			5	57	0	0	0	1	0	5	57				
MYEOV	26579	broad.mit.edu	37	11	69063719	69063719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69063719G>A	ENST00000308946.3	+	3	1252	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	MYEOV_ENST00000441339.2_Missense_Mutation_p.A268T|MYEOV_ENST00000535407.1_Missense_Mutation_p.A210T	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	268										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACTGTTGAGGCCCTGGGGGG	0.672																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(628-630)Gcc>Acc		myeloma overexpressed							49.0	52.0	51.0					11																	69063719		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063719G>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.802G>A	11.37:g.69063719G>A	ENSP00000308330:p.Ala268Thr					MYEOV_ENST00000441339.2_Missense_Mutation_p.A268T|MYEOV_ENST00000308946.3_Missense_Mutation_p.A268T	p.A210T			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	1271	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		268					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.628G>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	9.897	1.205951	0.22205	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.24151	1.87;1.87;1.87	1.15	0.185	0.15096	.	.	.	.	.	T	0.09686	0.0238	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.35182	0.197	T	0.17107	-1.0380	9	0.87932	D	0	.	3.4404	0.07461	0.2832:0.0:0.7168:0.0	.	268	Q96EZ4	MYEOV_HUMAN	T	268;268;210	ENSP00000412482:A268T;ENSP00000308330:A268T;ENSP00000438100:A210T	ENSP00000308330:A268T	A	+	1	0	MYEOV	68820295	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.257000	0.08745	0.065000	0.16485	0.313000	0.20887	GCC		0.672	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			13	13	0	0	0	1	0	13	13				
DDX43	55510	broad.mit.edu	37	6	74104764	74104764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104764G>A	ENST00000370336.4	+	1	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	snoU13_ENST00000459178.1_RNA|OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.G46S	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	46					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATATAGTGTCGGCAGAGGTGG	0.622											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(136-138)Ggc>Agc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							56.0	59.0	58.0					6																	74104764		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74104764G>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.136G>A	6.37:g.74104764G>A	ENSP00000359361:p.Gly46Ser		OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1150	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.G46S	p.G46S	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			1	294	+			46					B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.136G>A	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562208	0.27915	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.52295	2.4;0.67	3.78	0.92	0.19397	.	0.730964	0.12388	N	0.473245	T	0.07773	0.0195	L	0.29908	0.895	0.09310	N	1	B	0.28801	0.223	B	0.11329	0.006	T	0.34601	-0.9822	10	0.05833	T	0.94	-3.9179	3.2107	0.06681	0.2287:0.0:0.564:0.2074	.	46	Q9NXZ2	DDX43_HUMAN	S	46	ENSP00000359361:G46S;ENSP00000441636:G46S	ENSP00000359361:G46S	G	+	1	0	DDX43	74161485	0.001000	0.12720	0.013000	0.15412	0.020000	0.10135	0.337000	0.19841	0.173000	0.19788	0.455000	0.32223	GGC		0.622	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		26	45	0	0	0	1	0	26	45				
C17orf53	78995	broad.mit.edu	37	17	42226360	42226360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42226360C>T	ENST00000319977.4	+	3	1426	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	C17orf53_ENST00000245382.6_Missense_Mutation_p.R397C|C17orf53_ENST00000585683.1_Missense_Mutation_p.R397C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	397										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAAAACTCGCCGTTTCCCTGG	0.617																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1189-1191)Cgt>Tgt		chromosome 17 open reading frame 53							37.0	43.0	41.0					17																	42226360		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42226360C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1189C>T	17.37:g.42226360C>T	ENSP00000313500:p.Arg397Cys					C17orf53_ENST00000585683.1_Missense_Mutation_p.R397C|C17orf53_ENST00000245382.6_Missense_Mutation_p.R397C	p.R397C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1426	+		Breast(137;0.0364)|Prostate(33;0.0376)	397					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.1189C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118785	0.77323	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.62941	0.66;-0.01	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000003	T	0.76948	0.4059	M	0.67953	2.075	0.44155	D	0.996957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.996	T	0.78152	-0.2315	10	0.72032	D	0.01	-12.3812	13.8289	0.63368	0.1531:0.8468:0.0:0.0	.	397;397;397	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	C	397	ENSP00000313500:R397C;ENSP00000245382:R397C	ENSP00000245382:R397C	R	+	1	0	C17orf53	39581886	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.974000	0.49272	2.767000	0.95098	0.561000	0.74099	CGT		0.617	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		18	36	0	0	0	1	0	18	36				
LEPREL2	10536	broad.mit.edu	37	12	6946155	6946155	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6946155G>T	ENST00000538102.1	+	0	615				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTAGGATGCAGCTGGGGCTGG	0.647																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							39.0	43.0	41.0					12																	6946155		2005	4165	6170			10536							g.chr12:6946155G>T	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6946155G>T						LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA		NM_014262.3	NP_055077.2					0	1498	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37			.	.	.	.	.	.	.	.	.	.	G	13.45	2.241695	0.39598	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.70749	-0.51;-0.51	4.35	2.52	0.30459	Prolyl 4-hydroxylase, alpha subunit (1);	0.447811	0.24836	N	0.035215	T	0.59224	0.2178	.	.	.	0.31000	N	0.720442	B	0.28055	0.199	B	0.27380	0.079	T	0.60520	-0.7247	9	0.56958	D	0.05	-26.8885	9.4817	0.38904	0.2406:0.0:0.7594:0.0	.	489	Q8IVL6	P3H3_HUMAN	S	488;304	ENSP00000379951:A488S;ENSP00000290510:A304S	ENSP00000290510:A304S	A	+	1	0	LEPREL2	6816416	0.904000	0.30761	1.000000	0.80357	0.824000	0.46624	2.402000	0.44521	0.477000	0.27464	0.462000	0.41574	GCT		0.647	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		12	15	1	0	1.05317e-09	1	1.28483e-09	12	15				
GPR160	26996	broad.mit.edu	37	3	169802423	169802423	+	Silent	SNP	C	C	A	rs564340262		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169802423C>A	ENST00000355897.5	+	4	1271	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGAAACTATCTTATATTTTC	0.338																																						ENST00000355897.5																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(661-663)atC>atA		G protein-coupled receptor 160							79.0	78.0	79.0					3																	169802423		2203	4300	6503	SO:0001819	synonymous_variant	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802423C>A	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.663C>A	3.37:g.169802423C>A							p.I221I	NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	1271	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		221					D3DNQ2	Silent	SNP	ENST00000355897.5	37	c.663C>A	CCDS3211.1																																																																																				0.338	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		8	72	1	0	7.48243e-07	1	8.70085e-07	8	72				
CDHR2	54825	broad.mit.edu	37	5	176005051	176005051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176005051C>T	ENST00000510636.1	+	15	1803	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	CDHR2_ENST00000261944.5_Missense_Mutation_p.T510M|CDHR2_ENST00000506348.1_Missense_Mutation_p.T510M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCCAGACACGGGCGCGTGG	0.667																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1528-1530)aCg>aTg		cadherin-related family member 2							35.0	36.0	36.0					5																	176005051		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176005051C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1529C>T	5.37:g.176005051C>T	ENSP00000424565:p.Thr510Met					CDHR2_ENST00000506348.1_Missense_Mutation_p.T510M|CDHR2_ENST00000261944.5_Missense_Mutation_p.T510M	p.T510M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			15	1803	+			510			Cadherin 5.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1529C>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713052	0.48517	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.52983	0.64;0.64;0.64	5.23	3.27	0.37495	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54854	0.1884	L	0.39514	1.22	0.27078	N	0.963163	D	0.89917	1.0	D	0.65874	0.939	T	0.44406	-0.9330	9	0.62326	D	0.03	-1.1796	8.4698	0.32977	0.1748:0.4491:0.3761:0.0	.	510	Q9BYE9	CDHR2_HUMAN	M	510	ENSP00000424565:T510M;ENSP00000261944:T510M;ENSP00000421078:T510M	ENSP00000261944:T510M	T	+	2	0	CDHR2	175937657	0.179000	0.23135	0.702000	0.30337	0.588000	0.36517	0.521000	0.22893	0.434000	0.26340	0.543000	0.68304	ACG		0.667	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		3	20	0	0	0	1	0	3	20				
STIM2	57620	broad.mit.edu	37	4	27010624	27010624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:27010624G>A	ENST00000467011.1	+	10	1914	c.1489G>A	c.(1489-1491)Ggg>Agg	p.G497R	STIM2_ENST00000465503.1_Splice_Site_p.G505R|STIM2_ENST00000237364.5_Splice_Site_p.G584R|STIM2_ENST00000382009.3_Splice_Site_p.G592R|STIM2_ENST00000467087.1_Splice_Site_p.G497R|STIM2_ENST00000412829.2_Splice_Site_p.G584R	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	497					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACAATTTCCCGGTAAGTGGCA	0.408																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.e11+1		stromal interaction molecule 2							56.0	57.0	57.0					4																	27010624		2203	4300	6503	SO:0001630	splice_region_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27010624G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1489+1G>A	4.37:g.27010624G>A						STIM2_ENST00000412829.2_Splice_Site_p.G584_splice|STIM2_ENST00000467087.1_Splice_Site_p.G497_splice|STIM2_ENST00000465503.1_Splice_Site_p.G505_splice|STIM2_ENST00000237364.5_Splice_Site_p.G584_splice|STIM2_ENST00000467011.1_Splice_Site_p.G497_splice	p.G592_splice	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			11	2041	+		Breast(46;0.0503)	497					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Splice_Site	SNP	ENST00000467011.1	37	c.1774_splice	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	6.423	0.446135	0.12164	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.78481	-1.12;-1.15;-1.14;-1.11;-1.14;-1.12;-1.18;-1.17	5.82	5.82	0.92795	.	0.187678	0.48767	D	0.000176	T	0.73853	0.3640	N	0.02539	-0.55	0.43683	D	0.996128	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.72338	0.946;0.95;0.95;0.977	T	0.79386	-0.1825	10	0.35671	T	0.21	.	18.2759	0.90083	0.0:0.0:1.0:0.0	.	497;584;592;584	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	R	497;592;584;497;584;505;205;99	ENSP00000419073:G497R;ENSP00000371439:G592R;ENSP00000237364:G584R;ENSP00000419383:G497R;ENSP00000404812:G584R;ENSP00000417569:G505R;ENSP00000420113:G205R;ENSP00000419536:G99R	ENSP00000237364:G584R	G	+	1	0	STIM2	26619722	0.993000	0.37304	0.969000	0.41365	0.413000	0.31143	2.759000	0.47573	2.767000	0.95098	0.655000	0.94253	GGG		0.408	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	Missense_Mutation	19	61	0	0	0	1	0	19	61				
ANGPT4	51378	broad.mit.edu	37	20	868969	868969	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:868969G>A	ENST00000381922.3	-	3	681	c.579C>T	c.(577-579)ggC>ggT	p.G193G	ANGPT4_ENST00000546022.1_Silent_p.G193G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	193					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACCTGTTTTGGCCCTGAAGCT	0.587																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(577-579)ggC>ggT		angiopoietin 4							80.0	69.0	73.0					20																	868969		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:868969G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.579C>T	20.37:g.868969G>A						ANGPT4_ENST00000546022.1_Silent_p.G193G	p.G193G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			3	681	-			193					B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.579C>T	CCDS13009.1																																																																																				0.587	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		14	36	0	0	0	1	0	14	36				
LCMT1	51451	broad.mit.edu	37	16	25175976	25175976	+	Silent	SNP	C	C	T	rs377530979	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25175976C>T	ENST00000399069.3	+	7	782	c.627C>T	c.(625-627)tcC>tcT	p.S209S	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.S154S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	209					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S209S(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAGAGCAGTCCGCAAACCTCC	0.428													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21796	0.0		0.0	False		,,,				2504	0.002				Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			1	Substitution - coding silent(1)	p.S209S(1)	lung(1)								c.(625-627)tcC>tcT		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)	C	,	6,3842		0,6,1918	106.0	100.0	102.0		462,627	-7.3	0.9	16		102	0,8314		0,0,4157	no	coding-synonymous,coding-synonymous	LCMT1	NM_001032391.1,NM_016309.2	,	0,6,6075	TT,TC,CC		0.0,0.1559,0.0493	,	154/280,209/335	25175976	6,12156	1924	4157	6081	SO:0001819	synonymous_variant	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25175976C>T	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.627C>T	16.37:g.25175976C>T						LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.S154S	p.S209S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	7	782	+			209					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	c.627C>T	CCDS45445.1																																																																																				0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		4	72	0	0	0	1	0	4	72				
C3P1	388503	broad.mit.edu	37	19	10169550	10169550	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10169550C>T	ENST00000495140.1	+	0	1950							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GACATTCAGACAACCTTTGCC	0.582																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															98.0	102.0	101.0					19																	10169550		1959	4138	6097			0							g.chr19:10169550C>T	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10169550C>T														0	1950	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.582	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		13	48	0	0	0	1	0	13	48				
NTRK2	4915	broad.mit.edu	37	9	87342789	87342789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87342789C>T	ENST00000323115.4	+	8	1427	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	NTRK2_ENST00000395882.1_Silent_p.D358D|NTRK2_ENST00000376214.1_Silent_p.D358D|NTRK2_ENST00000304053.6_Silent_p.D358D|NTRK2_ENST00000395866.2_Silent_p.D202D|NTRK2_ENST00000359847.3_Silent_p.D358D|NTRK2_ENST00000376208.1_Silent_p.D358D|NTRK2_ENST00000277120.3_Silent_p.D358D|NTRK2_ENST00000376213.1_Silent_p.D358D			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	358	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ACAATGGGGACTACACTCTAA	0.453										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(1072-1074)gaC>gaT		neurotrophic tyrosine kinase, receptor, type 2							124.0	114.0	118.0					9																	87342789		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87342789C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1074C>T	9.37:g.87342789C>T		TSP Lung(25;0.17)				NTRK2_ENST00000323115.4_Silent_p.D358D|NTRK2_ENST00000376213.1_Silent_p.D358D|NTRK2_ENST00000376214.1_Silent_p.D358D|NTRK2_ENST00000395882.1_Silent_p.D358D|NTRK2_ENST00000359847.3_Silent_p.D358D|NTRK2_ENST00000376208.1_Silent_p.D358D|NTRK2_ENST00000277120.3_Silent_p.D358D|NTRK2_ENST00000395866.2_Silent_p.D202D	p.D358D	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			9	1557	+			358			Ig-like C2-type 2.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.1074C>T	CCDS35050.1																																																																																				0.453	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			21	50	0	0	0	1	0	21	50				
MYO1F	4542	broad.mit.edu	37	19	8606809	8606809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8606809G>T	ENST00000338257.8	-	15	1858	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	531	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCTGCATCAGCTCTATGAGG	0.617																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1591-1593)Ctg>Atg		myosin IF							68.0	72.0	70.0					19																	8606809		2072	4208	6280	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8606809G>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1591C>A	19.37:g.8606809G>T	ENSP00000344871:p.Leu531Met						p.L531M	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			15	1858	-			531			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1591C>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045375	0.75846	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.89681	-2.55	4.85	3.81	0.43845	Myosin head, motor domain (2);	0.096412	0.43919	D	0.000504	D	0.92567	0.7639	M	0.80332	2.49	0.80722	D	1	P	0.51791	0.948	P	0.57244	0.816	D	0.92316	0.5862	10	0.54805	T	0.06	.	11.8871	0.52608	0.087:0.0:0.913:0.0	.	531	O00160	MYO1F_HUMAN	M	576;531	ENSP00000344871:L531M	ENSP00000304899:L576M	L	-	1	2	MYO1F	8512809	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.714000	0.74692	1.040000	0.40099	0.462000	0.41574	CTG		0.617	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			7	56	1	0	0.00448238	1	0.00472561	7	56				
BLMH	642	broad.mit.edu	37	17	28601165	28601165	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28601165G>T	ENST00000261714.6	-	7	870	c.696C>A	c.(694-696)acC>acA	p.T232T	BLMH_ENST00000394819.3_Silent_p.T145T|BLMH_ENST00000582669.1_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	232					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GATATTCCCAGGTGAATGTCT	0.438																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(694-696)acC>acA		bleomycin hydrolase							75.0	73.0	74.0					17																	28601165		2203	4300	6503	SO:0001819	synonymous_variant	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28601165G>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.696C>A	17.37:g.28601165G>T						BLMH_ENST00000394819.3_Silent_p.T145T|BLMH_ENST00000582669.1_5'UTR	p.T232T	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN			7	870	-			232					B2R796|Q53F86|Q9UER9	Silent	SNP	ENST00000261714.6	37	c.696C>A	CCDS32604.1																																																																																				0.438	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		7	42	1	0	2.0095e-06	1	2.31757e-06	7	42				
PCDHB4	56131	broad.mit.edu	37	5	140501652	140501652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140501652G>T	ENST00000194152.1	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	24					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGTCTCAGGTTCGCCTCG	0.498																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(70-72)caG>caT									128.0	126.0	127.0					5																	140501652		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501652G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.72G>T	5.37:g.140501652G>T	ENSP00000194152:p.Gln24His						p.Q24H	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	72	+			24					Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.72G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642927	0.14451	.	.	ENSG00000081818	ENST00000194152	T	0.48522	0.81	4.66	1.78	0.24846	.	.	.	.	.	T	0.33876	0.0878	L	0.37850	1.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25047	-1.0143	9	0.48119	T	0.1	.	5.1402	0.14955	0.1617:0.0:0.5456:0.2927	.	24	Q9Y5E5	PCDB4_HUMAN	H	24	ENSP00000194152:Q24H	ENSP00000194152:Q24H	Q	+	3	2	PCDHB4	140481836	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.107000	0.10873	0.250000	0.21479	-0.961000	0.02630	CAG		0.498	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		12	31	1	0	0.00185496	1	0.00197886	12	31				
VWA8	23078	broad.mit.edu	37	13	42440107	42440107	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42440107G>A	ENST00000379310.3	-	11	1346	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	VWA8_ENST00000281496.6_Silent_p.S426S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	426						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GCTGCTTATGGCTCAAAGTCT	0.423																																						ENST00000379310.3																			0											c.(1276-1278)agC>agT		von Willebrand factor A domain containing 8							137.0	137.0	137.0					13																	42440107		2203	4300	6503	SO:0001819	synonymous_variant	23078							g.chr13:42440107G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1278C>T	13.37:g.42440107G>A						VWA8_ENST00000281496.6_Silent_p.S426S	p.S426S	NM_015058.1	NP_055873.1					11	1346	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.1278C>T	CCDS41881.1																																																																																				0.423	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		43	39	0	0	0	1	0	43	39				
MARCH6	10299	broad.mit.edu	37	5	10387155	10387155	+	Silent	SNP	G	G	A	rs372682863		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10387155G>A	ENST00000274140.5	+	5	516	c.384G>A	c.(382-384)acG>acA	p.T128T	MARCH6_ENST00000503788.1_Silent_p.T23T|MARCH6_ENST00000449913.2_Silent_p.T80T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	128					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CACTACTGACGCTGCCATTAG	0.428																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(382-384)acG>acA		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase		G		1,4405	2.1+/-5.4	0,1,2202	179.0	149.0	159.0		384	0.4	1.0	5		159	0,8600		0,0,4300	no	coding-synonymous	MARCH6	NM_005885.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		128/911	10387155	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10387155G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.384G>A	5.37:g.10387155G>A						MARCH6_ENST00000449913.2_Silent_p.T80T|MARCH6_ENST00000503788.1_Silent_p.T23T	p.T128T	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			5	516	+			128					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.384G>A	CCDS34135.1																																																																																				0.428	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		24	30	0	0	0	1	0	24	30				
USH1G	124590	broad.mit.edu	37	17	72915984	72915984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72915984A>G	ENST00000319642.1	-	2	1129	c.947T>C	c.(946-948)gTg>gCg	p.V316A		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	316					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTGCGGAACACCATGGTGCC	0.697																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(946-948)gTg>gCg		Usher syndrome 1G (autosomal recessive)							58.0	72.0	67.0					17																	72915984		2203	4299	6502	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915984A>G	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.947T>C	17.37:g.72915984A>G	ENSP00000320076:p.Val316Ala						p.V316A	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1129	-	all_lung(278;0.172)|Lung NSC(278;0.207)		316					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.947T>C	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317033	0.81469	.	.	ENSG00000182040	ENST00000319642	T	0.69685	-0.42	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.31065	0.9	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	T	0.58115	-0.7693	10	0.13853	T	0.58	-31.8783	13.7241	0.62748	1.0:0.0:0.0:0.0	.	316	Q495M9	USH1G_HUMAN	A	316	ENSP00000320076:V316A	ENSP00000320076:V316A	V	-	2	0	USH1G	70427579	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.134000	0.94467	1.845000	0.53610	0.454000	0.30748	GTG		0.697	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		30	64	0	0	0	1	0	30	64				
ZNF528	84436	broad.mit.edu	37	19	52909767	52909767	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909767G>T	ENST00000360465.3	+	6	568		c.e6-1		ZNF528_ENST00000594530.1_Splice_Site|ZNF528_ENST00000598192.1_Splice_Site|ZNF528_ENST00000391788.2_Splice_Site	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTTATAAATAGGAATCTGTCT	0.403																																						ENST00000391788.2																			1	Unknown(1)	p.?(1)	skin(1)	breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.e6-1		zinc finger protein 528							91.0	90.0	90.0					19																	52909767		2203	4300	6503	SO:0001630	splice_region_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909767G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.143-1G>T	19.37:g.52909767G>T						ZNF528_ENST00000598192.1_Splice_Site|ZNF528_ENST00000360465.3_Splice_Site|ZNF528_ENST00000594530.1_Splice_Site				Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	6	635	+								B3KPN4|Q86T88|Q96JK0	Splice_Site	SNP	ENST00000360465.3	37		CCDS33091.1	.	.	.	.	.	.	.	.	.	.	g	3.486	-0.104793	0.06967	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465;ENST00000448954	.	.	.	1.84	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.25575	N	0.98686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0751	0.25199	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF528	57601579	0.561000	0.26578	0.003000	0.11579	0.007000	0.05969	2.201000	0.42734	1.018000	0.39521	0.467000	0.42956	.		0.403	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	Intron	11	48	1	0	4.3838e-07	1	5.12524e-07	11	48				
LRFN4	78999	broad.mit.edu	37	11	66626355	66626355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626355G>T	ENST00000309602.4	+	1	1383	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	380						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCAGTGCCGAGGGGGGCCGCC	0.711																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1138-1140)gaG>gaT		leucine rich repeat and fibronectin type III domain containing 4							5.0	6.0	6.0					11																	66626355		2054	4010	6064	SO:0001583	missense	78999					integral to membrane		g.chr11:66626355G>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1140G>T	11.37:g.66626355G>T	ENSP00000312535:p.Glu380Asp					PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron	p.E380D	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	1383	+			380					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1140G>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	1.421	-0.572979	0.03882	.	.	ENSG00000173621	ENST00000309602;ENST00000525479	T	0.50548	0.74	4.01	-3.41	0.04839	.	0.452722	0.19013	N	0.125009	T	0.15349	0.0370	N	0.08118	0	0.19575	N	0.999964	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.15178	-1.0446	10	0.10902	T	0.67	.	0.2705	0.00231	0.2406:0.2746:0.2062:0.2785	.	380;380	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	D	380	ENSP00000312535:E380D	ENSP00000312535:E380D	E	+	3	2	LRFN4	66382931	0.001000	0.12720	0.873000	0.34254	0.589000	0.36550	0.229000	0.17833	-0.231000	0.09825	-0.448000	0.05591	GAG		0.711	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		4	6	1	0	2.56e-06	1	2.9446e-06	4	6				
HMGCS1	3157	broad.mit.edu	37	5	43298869	43298869	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43298869A>T	ENST00000325110.6	-	3	405	c.199T>A	c.(199-201)Tct>Act	p.S67T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S67T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	67					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATGCAAAGAGAGTTAATATCT	0.433																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(199-201)Tct>Act		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							129.0	123.0	125.0					5																	43298869		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43298869A>T		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.199T>A	5.37:g.43298869A>T	ENSP00000322706:p.Ser67Thr					HMGCS1_ENST00000433297.2_Missense_Mutation_p.S67T	p.S67T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			3	405	-			67					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.199T>A	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748107	0.89663	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275;ENST00000511774	D;D;D	0.91295	-2.82;-2.82;-2.82	6.02	6.02	0.97574	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95857	0.8880	10	0.87932	D	0	-1.2444	16.542	0.84395	1.0:0.0:0.0:0.0	.	67	Q01581	HMCS1_HUMAN	T	67	ENSP00000322706:S67T;ENSP00000399402:S67T;ENSP00000427339:S67T	ENSP00000322706:S67T	S	-	1	0	HMGCS1	43334626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	TCT		0.433	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			48	78	0	0	0	1	0	48	78				
GRAMD1B	57476	broad.mit.edu	37	11	123465527	123465527	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123465527T>A	ENST00000529750.1	+	5	752	c.425T>A	c.(424-426)aTc>aAc	p.I142N	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.I149N|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.I142N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	142	GRAM.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAGCAACATCTTCCGCTGG	0.517																																						ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(424-426)aTc>aAc		GRAM domain containing 1B							101.0	101.0	101.0					11																	123465527		2022	4177	6199	SO:0001583	missense	57476					integral to membrane		g.chr11:123465527T>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.425T>A	11.37:g.123465527T>A	ENSP00000436500:p.Ile142Asn					GRAMD1B_ENST00000322282.7_Missense_Mutation_p.I142N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.I149N	p.I142N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	5	752	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	142			GRAM.		Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.425T>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555061	0.86231	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.6	5.6	0.85130	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	M	0.93197	3.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.96345	0.9254	10	0.87932	D	0	.	15.7933	0.78384	0.0:0.0:0.0:1.0	.	102;149;142;149	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	N	149;149;142;142;102;138	ENSP00000402457:I149N;ENSP00000325628:I142N;ENSP00000436500:I142N;ENSP00000432987:I102N;ENSP00000434214:I138N	ENSP00000325628:I142N	I	+	2	0	GRAMD1B	122970737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.122000	0.65172	0.523000	0.50628	ATC		0.517	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		15	38	0	0	0	1	0	15	38				
DNAI1	27019	broad.mit.edu	37	9	34517367	34517367	+	Missense_Mutation	SNP	G	G	A	rs373062538		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34517367G>A	ENST00000242317.4	+	19	2074	c.1903G>A	c.(1903-1905)Gtg>Atg	p.V635M		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	635					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCTCACCCACGTGCAGTTCAA	0.532									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1903-1905)Gtg>Atg		dynein, axonemal, intermediate chain 1							147.0	111.0	123.0					9																	34517367		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34517367G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1903G>A	9.37:g.34517367G>A	ENSP00000242317:p.Val635Met						p.V635M	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	19	2074	+	all_epithelial(49;0.244)		635					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1903G>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863061	0.71949	.	.	ENSG00000122735	ENST00000242317	T	0.72942	-0.7	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.065082	0.64402	D	0.000009	T	0.75369	0.3840	M	0.70595	2.14	0.80722	D	1	P	0.51449	0.945	P	0.46885	0.53	T	0.79235	-0.1887	10	0.72032	D	0.01	.	16.3744	0.83381	0.0:0.0:1.0:0.0	.	635	Q9UI46	DNAI1_HUMAN	M	635	ENSP00000242317:V635M	ENSP00000242317:V635M	V	+	1	0	DNAI1	34507367	0.487000	0.25988	0.993000	0.49108	0.969000	0.65631	0.912000	0.28597	2.651000	0.90000	0.561000	0.74099	GTG		0.532	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			15	12	0	0	0	1	0	15	12				
FMNL3	91010	broad.mit.edu	37	12	50050932	50050932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50050932C>T	ENST00000293590.5	-	7	880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R165H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R216H|FMNL3_ENST00000335154.5_Missense_Mutation_p.R216H			Q8IVF7	FMNL3_HUMAN	formin-like 3	216	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.R216H(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTCACTAGGCGGGAGTTCTT	0.577																																						ENST00000335154.5																			2	Substitution - Missense(2)	p.R216H(2)	prostate(1)|stomach(1)	breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(646-648)cGc>cAc		formin-like 3							109.0	108.0	108.0					12																	50050932		2022	4191	6213	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50050932C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.647G>A	12.37:g.50050932C>T	ENSP00000293590:p.Arg216His					FMNL3_ENST00000352151.5_Missense_Mutation_p.R165H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R216H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R216H	p.R216H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			7	880	-			216			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.647G>A		.	.	.	.	.	.	.	.	.	.	C	24.4	4.523356	0.85600	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;D;T	0.81821	-1.46;-1.45;-1.54;-1.45	5.32	5.32	0.75619	.	0.178295	0.49916	D	0.000129	D	0.89483	0.6728	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.80764	0.994;0.754	D	0.88023	0.2770	10	0.35671	T	0.21	.	18.1497	0.89671	0.0:1.0:0.0:0.0	.	165;216	Q8IVF7-2;Q8IVF7-3	.;.	H	216;216;165;216	ENSP00000335655:R216H;ENSP00000447479:R216H;ENSP00000344311:R165H;ENSP00000293590:R216H	ENSP00000293590:R216H	R	-	2	0	FMNL3	48337199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.796000	0.85898	2.675000	0.91044	0.462000	0.41574	CGC		0.577	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		10	86	0	0	0	1	0	10	86				
CASZ1	54897	broad.mit.edu	37	1	10715763	10715763	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10715763G>A	ENST00000377022.3	-	9	1925	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.S536S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	536					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S536S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTAGTAGACGCTGCAGTCGT	0.622																																						ENST00000377022.3																			1	Substitution - coding silent(1)	p.S536S(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1606-1608)agC>agT		castor zinc finger 1							168.0	121.0	137.0					1																	10715763		2202	4300	6502	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715763G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1608C>T	1.37:g.10715763G>A						CASZ1_ENST00000344008.5_Silent_p.S536S	p.S536S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1925	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	536					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1608C>T	CCDS41246.1																																																																																				0.622	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		15	19	0	0	0	1	0	15	19				
EPHA7	2045	broad.mit.edu	37	6	93982040	93982040	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93982040T>G	ENST00000369303.4	-	6	1609	c.1425A>C	c.(1423-1425)gaA>gaC	p.E475D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	475	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTTCATATTCTGTGATGA	0.443																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1423-1425)gaA>gaC		EPH receptor A7							300.0	272.0	281.0					6																	93982040		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93982040T>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1425A>C	6.37:g.93982040T>G	ENSP00000358309:p.Glu475Asp						p.E475D	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	6	1609	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	475			Fibronectin type-III 2.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1425A>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	9.594	1.126977	0.20959	.	.	ENSG00000135333	ENST00000369303	T	0.57273	0.41	5.49	1.78	0.24846	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.28054	0.825	0.80722	D	1	D;D;D	0.76494	0.974;0.998;0.999	D;D;D	0.70716	0.953;0.95;0.97	T	0.35724	-0.9777	10	0.05525	T	0.97	.	9.3204	0.37959	0.0:0.2056:0.0:0.7944	.	475;475;475	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	D	475	ENSP00000358309:E475D	ENSP00000358309:E475D	E	-	3	2	EPHA7	94038761	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	1.261000	0.32980	0.135000	0.18707	-0.379000	0.06801	GAA		0.443	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			13	118	0	0	0	1	0	13	118				
FAM24B	196792	broad.mit.edu	37	10	124608857	124608857	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124608857G>T	ENST00000368898.3	-	4	481	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000462859.1_5'UTR|FAM24B_ENST00000368896.1_Missense_Mutation_p.S64Y	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	64						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGACAAGACTCCGTGGC	0.512																																						ENST00000368898.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(190-192)tCt>tAt		family with sequence similarity 24, member B							148.0	126.0	134.0					10																	124608857		2203	4300	6503	SO:0001583	missense	196792					extracellular region		g.chr10:124608857G>T	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.191C>A	10.37:g.124608857G>T	ENSP00000357894:p.Ser64Tyr					FAM24B_ENST00000462859.1_5'UTR|FAM24B_ENST00000368896.1_Missense_Mutation_p.S64Y|CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR	p.S64Y	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)	4	481	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	64					Q5JPG1	Missense_Mutation	SNP	ENST00000368898.3	37	c.191C>A	CCDS31303.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027222	0.35797	.	.	ENSG00000213185	ENST00000368898;ENST00000368896	T;T	0.53857	0.6;0.6	3.12	2.22	0.28083	.	1.757710	0.03790	U	0.262736	T	0.51041	0.1651	.	.	.	0.09310	N	1	P	0.41848	0.763	B	0.42653	0.394	T	0.47661	-0.9100	9	0.87932	D	0	.	8.4184	0.32685	0.0:0.2408:0.7592:0.0	.	64	Q8N5W8	FA24B_HUMAN	Y	64	ENSP00000357894:S64Y;ENSP00000357892:S64Y	ENSP00000357892:S64Y	S	-	2	0	FAM24B	124598847	0.005000	0.15991	0.004000	0.12327	0.044000	0.14063	1.406000	0.34646	0.891000	0.36235	-0.365000	0.07479	TCT		0.512	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644		29	28	1	0	1.04121e-07	1	1.23433e-07	29	28				
SIPA1	6494	broad.mit.edu	37	11	65409022	65409022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65409022G>A	ENST00000394224.3	+	2	926	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SIPA1_ENST00000527525.1_Silent_p.E210E|SIPA1_ENST00000394227.3_Silent_p.E210E|SIPA1_ENST00000534313.1_Silent_p.E210E	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	210					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACAGCCTGGAGCACGCAGACC	0.622																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(628-630)gaG>gaA		signal-induced proliferation-associated 1							37.0	36.0	36.0					11																	65409022		2200	4295	6495	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65409022G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.630G>A	11.37:g.65409022G>A						SIPA1_ENST00000534313.1_Silent_p.E210E|SIPA1_ENST00000394227.3_Silent_p.E210E|SIPA1_ENST00000527525.1_Silent_p.E210E	p.E210E	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	926	+			210					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.630G>A	CCDS8108.1																																																																																				0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		14	17	0	0	0	1	0	14	17				
VPS13C	54832	broad.mit.edu	37	15	62277144	62277144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62277144C>A	ENST00000261517.5	-	19	1706	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E545*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E502*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E502*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTTGTTTTCTCTTATCGTA	0.323																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1633-1635)Gaa>Taa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							82.0	82.0	82.0					15																	62277144		2203	4300	6503	SO:0001587	stop_gained	54832				protein localization			g.chr15:62277144C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1633G>T	15.37:g.62277144C>A	ENSP00000261517:p.Glu545*					VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E545*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E502*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E502*	p.E545*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			19	1706	-			545						Nonsense_Mutation	SNP	ENST00000261517.5	37	c.1633G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	39	7.337108	0.98221	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.8161	0.88634	0.0:1.0:0.0:0.0	.	.	.	.	X	502;545;545;545	.	ENSP00000249837:E502X	E	-	1	0	VPS13C	60064436	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.043000	0.76572	2.650000	0.89964	0.655000	0.94253	GAA		0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	51	1	0	1.12685e-05	1	1.27857e-05	6	51				
TICRR	90381	broad.mit.edu	37	15	90119199	90119199	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90119199A>G	ENST00000268138.7	+	1	487	c.382A>G	c.(382-384)Agc>Ggc	p.S128G	TICRR_ENST00000560985.1_Missense_Mutation_p.S128G|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	128					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GATCCTGCGGAGCAGCGGGAG	0.706																																						ENST00000268138.7																			0											c.(382-384)Agc>Ggc		TOPBP1-interacting checkpoint and replication regulator							9.0	13.0	11.0					15																	90119199		2058	4183	6241	SO:0001583	missense	90381							g.chr15:90119199A>G	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.382A>G	15.37:g.90119199A>G	ENSP00000268138:p.Ser128Gly					RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S128G	p.S128G							1	487	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.382A>G	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693271	0.48202	.	.	ENSG00000140534	ENST00000268138	T	0.09538	2.97	4.71	2.25	0.28309	.	0.259259	0.38492	N	0.001670	T	0.11580	0.0282	L	0.55481	1.735	0.30053	N	0.811542	P	0.42296	0.775	B	0.39660	0.306	T	0.04811	-1.0925	10	0.37606	T	0.19	-1.0186	11.4772	0.50306	0.655:0.345:0.0:0.0	.	128	Q7Z2Z1	TICRR_HUMAN	G	128	ENSP00000268138:S128G	ENSP00000268138:S128G	S	+	1	0	C15orf42	87920203	1.000000	0.71417	0.672000	0.29872	0.975000	0.68041	3.975000	0.56859	0.237000	0.21200	0.402000	0.26972	AGC		0.706	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		3	5	0	0	0	1	0	3	5				
NSUN2	54888	broad.mit.edu	37	5	6632715	6632715	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6632715T>C	ENST00000264670.6	-	2	562	c.251A>G	c.(250-252)aAa>aGa	p.K84R	NSUN2_ENST00000506139.1_Missense_Mutation_p.K84R|SRD5A1_ENST00000274192.5_5'Flank|SRD5A1_ENST00000538824.1_5'Flank|SRD5A1_ENST00000537411.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	84					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCCTACCTTTTGTAACCAGT	0.547																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(250-252)aAa>aGa		NOP2/Sun RNA methyltransferase family, member 2							117.0	135.0	129.0					5																	6632715		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6632715T>C	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.251A>G	5.37:g.6632715T>C	ENSP00000264670:p.Lys84Arg					NSUN2_ENST00000506139.1_Missense_Mutation_p.K84R|NSUN2_ENST00000539938.1_5'UTR	p.K84R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			2	562	-			84					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.251A>G	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.164477	0.57476	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.38560	1.23;1.13	4.81	3.65	0.41850	.	0.045575	0.85682	N	0.000000	T	0.31389	0.0795	L	0.41124	1.26	0.80722	D	1	B;B	0.21606	0.058;0.019	B;B	0.20384	0.022;0.029	T	0.06058	-1.0848	10	0.22109	T	0.4	.	9.9942	0.41889	0.0:0.0812:0.0:0.9188	.	84;84	B4DQW2;Q08J23	.;NSUN2_HUMAN	R	84	ENSP00000264670:K84R;ENSP00000420957:K84R	ENSP00000264670:K84R	K	-	2	0	NSUN2	6685715	1.000000	0.71417	0.993000	0.49108	0.776000	0.43924	5.342000	0.65970	0.701000	0.31803	0.533000	0.62120	AAA		0.547	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		11	104	0	0	0	1	0	11	104				
LRP4	4038	broad.mit.edu	37	11	46903448	46903448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46903448C>T	ENST00000378623.1	-	20	2861	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	873					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTCCAATACATGTACCTGG	0.512																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2617-2619)atG>atA		low density lipoprotein receptor-related protein 4							58.0	53.0	55.0					11																	46903448		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46903448C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2619G>A	11.37:g.46903448C>T	ENSP00000367888:p.Met873Ile						p.M873I	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	20	2861	-			873					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2619G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492961	0.96339	.	.	ENSG00000134569	ENST00000378623	D	0.95137	-3.62	5.94	5.94	0.96194	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96144	0.8743	L	0.41027	1.25	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96052	0.9032	10	0.62326	D	0.03	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	873	O75096	LRP4_HUMAN	I	873	ENSP00000367888:M873I	ENSP00000367888:M873I	M	-	3	0	LRP4	46860024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.745000	0.85046	2.820000	0.97059	0.650000	0.86243	ATG		0.512	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		5	40	0	0	0	1	0	5	40				
COL9A1	1297	broad.mit.edu	37	6	70964198	70964198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70964198G>A	ENST00000357250.6	-	25	1858	c.1700C>T	c.(1699-1701)gCa>gTa	p.A567V	COL9A1_ENST00000320755.7_Missense_Mutation_p.A324V|COL9A1_ENST00000370499.4_Missense_Mutation_p.A324V|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	567	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGCAATCCTGCATCACCAGG	0.383																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1699-1701)gCa>gTa		collagen, type IX, alpha 1							72.0	69.0	70.0					6																	70964198		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964198G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1700C>T	6.37:g.70964198G>A	ENSP00000349790:p.Ala567Val					COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.A324V|COL9A1_ENST00000370499.4_Missense_Mutation_p.A324V	p.A567V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			25	1858	-			567			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1700C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157444	0.21454	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;T;T	0.93426	-3.22;-1.02;-1.02	5.76	1.39	0.22231	.	0.680767	0.16301	N	0.220480	T	0.75925	0.3916	N	0.26130	0.795	0.09310	N	1	B;B;B	0.20459	0.045;0.012;0.0	B;B;B	0.17098	0.017;0.009;0.001	T	0.65516	-0.6149	10	0.23891	T	0.37	.	8.7701	0.34726	0.4317:0.0:0.5683:0.0	.	567;324;140	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	V	567;324;324	ENSP00000349790:A567V;ENSP00000315252:A324V;ENSP00000359530:A324V	ENSP00000315252:A324V	A	-	2	0	COL9A1	71020919	0.008000	0.16893	0.123000	0.21794	0.985000	0.73830	0.586000	0.23894	0.342000	0.23796	0.591000	0.81541	GCA		0.383	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			22	26	0	0	0	1	0	22	26				
TREX2	11219	broad.mit.edu	37	X	152710594	152710594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152710594G>A	ENST00000334497.2	-	11	1565	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	TREX2_ENST00000402951.1_Missense_Mutation_p.R142W|TREX2_ENST00000370232.1_Missense_Mutation_p.R142W|TREX2_ENST00000414588.1_Missense_Mutation_p.R141W|TREX2_ENST00000338525.2_Missense_Mutation_p.R99W|TREX2_ENST00000393862.2_Missense_Mutation_p.R99W|TREX2_ENST00000330912.2_Missense_Mutation_p.R99W|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000370231.2_Missense_Mutation_p.R99W			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	142					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCGTCCGCACCACGGCG	0.667								Editing and processing nucleases																														ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(295-297)Cgg>Tgg	Editing and processing nucleases	three prime repair exonuclease 2							12.0	11.0	12.0					X																	152710594		2194	4279	6473	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710594G>A	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.424C>T	X.37:g.152710594G>A	ENSP00000334993:p.Arg142Trp					TREX2_ENST00000334497.2_Missense_Mutation_p.R142W|TREX2_ENST00000414588.1_Missense_Mutation_p.R141W|TREX2_ENST00000370231.2_Missense_Mutation_p.R99W|TREX2_ENST00000370232.1_Missense_Mutation_p.R142W|TREX2_ENST00000402951.1_Missense_Mutation_p.R142W|TREX2_ENST00000393862.2_Missense_Mutation_p.R99W|TREX2_ENST00000338525.2_Missense_Mutation_p.R99W	p.R99W			Q9BQ50	TREX2_HUMAN			13	1845	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		142					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.295C>T		.	.	.	.	.	.	.	.	.	.	G	10.98	1.504188	0.26949	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.16	1.63	0.23807	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.527267	0.14675	U	0.305062	T	0.50803	0.1637	L	0.49126	1.545	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.65573	0.756;0.936	T	0.32587	-0.9901	10	0.66056	D	0.02	-20.0379	6.308	0.21149	0.1038:0.0:0.4529:0.4433	.	141;142	Q06S70;Q9BQ50	.;TREX2_HUMAN	W	99;99;99;142;142;142;141;99	ENSP00000377442:R99W;ENSP00000333441:R99W;ENSP00000345218:R99W;ENSP00000334993:R142W;ENSP00000359252:R142W;ENSP00000386078:R142W;ENSP00000401692:R141W;ENSP00000359251:R99W	ENSP00000333441:R99W	R	-	1	2	TREX2	152363788	0.000000	0.05858	0.013000	0.15412	0.021000	0.10359	0.617000	0.24359	0.278000	0.22164	0.468000	0.43344	CGG		0.667	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		11	12	0	0	0	1	0	11	12				
LRRC47	57470	broad.mit.edu	37	1	3703680	3703680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703680G>A	ENST00000378251.1	-	2	837	c.810C>T	c.(808-810)ggC>ggT	p.G270G	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	270							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTCGGCACGGCCCTTGCCCT	0.657																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(808-810)ggC>ggT		leucine rich repeat containing 47							90.0	65.0	73.0					1																	3703680		2203	4300	6503	SO:0001819	synonymous_variant	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703680G>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.810C>T	1.37:g.3703680G>A							p.G270G	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	837	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	270					Q9ULN5	Silent	SNP	ENST00000378251.1	37	c.810C>T	CCDS51.1																																																																																				0.657	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		12	23	0	0	0	1	0	12	23				
ZNF169	169841	broad.mit.edu	37	9	97062159	97062159	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97062159C>A	ENST00000395395.2	+	5	409	c.319C>A	c.(319-321)Ctc>Atc	p.L107I	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTCGCAGCTCCTCAGACAATA	0.498																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(319-321)Ctc>Atc		zinc finger protein 169							69.0	70.0	69.0					9																	97062159		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062159C>A	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.319C>A	9.37:g.97062159C>A	ENSP00000378792:p.Leu107Ile					ZNF169_ENST00000340911.4_3'UTR	p.L107I	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	409	+		Acute lymphoblastic leukemia(62;0.136)	107					A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.319C>A	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358574	0.41801	.	.	ENSG00000175787	ENST00000395395	T	0.07567	3.18	2.73	2.73	0.32206	.	.	.	.	.	T	0.07908	0.0198	L	0.57536	1.79	0.80722	D	1	P	0.39376	0.67	B	0.35039	0.194	T	0.27739	-1.0065	9	0.18710	T	0.47	.	9.1462	0.36935	0.0:1.0:0.0:0.0	.	107	Q14929	ZN169_HUMAN	I	107	ENSP00000378792:L107I	ENSP00000378792:L107I	L	+	1	0	ZNF169	96101980	0.000000	0.05858	0.324000	0.25361	0.013000	0.08279	-0.240000	0.08952	1.851000	0.53745	0.603000	0.83216	CTC		0.498	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		4	42	1	0	0.150653	1	0.152692	4	42				
FAM160A2	84067	broad.mit.edu	37	11	6232933	6232933	+	Missense_Mutation	SNP	G	G	C	rs139429864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6232933G>C	ENST00000449352.2	-	12	2985	c.2722C>G	c.(2722-2724)Cgg>Ggg	p.R908G	FAM160A2_ENST00000265978.4_Missense_Mutation_p.R922G|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	908					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.R922W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCGCCCCGGGTGAGTAGA	0.597																																						ENST00000265978.4																			1	Substitution - Missense(1)	p.R922W(1)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2764-2766)Cgg>Ggg		family with sequence similarity 160, member A2							46.0	56.0	53.0					11																	6232933		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6232933G>C		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2722C>G	11.37:g.6232933G>C	ENSP00000416918:p.Arg908Gly					FAM160A2_ENST00000449352.2_Missense_Mutation_p.R908G|FAM160A2_ENST00000529360.1_5'UTR	p.R922G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			12	3122	-			908					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2764C>G	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	1.718	-0.497365	0.04291	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.09350	2.99;2.99	5.22	0.806	0.18708	.	0.872449	0.09881	N	0.743683	T	0.09291	0.0229	L	0.42245	1.32	0.26946	N	0.966146	P;B	0.47677	0.899;0.041	B;B	0.40134	0.32;0.034	T	0.32508	-0.9904	10	0.25106	T	0.35	-1.2411	8.681	0.34209	0.0:0.1407:0.4249:0.4344	.	908;922	Q8N612;Q8N612-2	F16A2_HUMAN;.	G	908;922	ENSP00000416918:R908G;ENSP00000265978:R922G	ENSP00000265978:R922G	R	-	1	2	FAM160A2	6189509	0.964000	0.33143	0.218000	0.23776	0.205000	0.24178	1.440000	0.35024	0.166000	0.19597	-0.133000	0.14855	CGG		0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		8	86	0	0	0	1	0	8	86				
INTS4	92105	broad.mit.edu	37	11	77635939	77635939	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77635939C>A	ENST00000534064.1	-	12	1406		c.e12-1		INTS4_ENST00000525931.1_Splice_Site|INTS4_ENST00000529807.1_Splice_Site	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4						snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGGATGAATCCTTTTAAAAAA	0.418																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.e12-1		integrator complex subunit 4							21.0	21.0	21.0					11																	77635939		2189	4288	6477	SO:0001630	splice_region_variant	92105				snRNA processing	integrator complex	protein binding	g.chr11:77635939C>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1372-1G>T	11.37:g.77635939C>A						INTS4_ENST00000525931.1_Splice_Site|INTS4_ENST00000529807.1_Splice_Site		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		12	1406	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)							Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Splice_Site	SNP	ENST00000534064.1	37		CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524544	0.64747	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7819	0.88526	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS4	77313587	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.171000	0.77595	2.489000	0.83994	0.484000	0.47621	.		0.418	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	Intron	9	27	1	0	0.000151284	1	0.000166931	9	27				
FAM83A	84985	broad.mit.edu	37	8	124219712	124219712	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124219712G>A	ENST00000518448.1	+	5	3103	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Silent_p.P363P|FAM83A_ENST00000546351.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	363	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCACACCCGCCTCCACCGC	0.766																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1087-1089)ccG>ccA		family with sequence similarity 83, member A							5.0	6.0	6.0					8																	124219712		1840	3813	5653	SO:0001819	synonymous_variant	84985							g.chr8:124219712G>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1089G>A	8.37:g.124219712G>A						FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000318462.6_Silent_p.P363P|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron	p.P363P			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3103	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		363			Pro-rich.		Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.1089G>A	CCDS6340.1																																																																																				0.766	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		4	3	0	0	0	1	0	4	3				
KIAA0195	9772	broad.mit.edu	37	17	73492414	73492414	+	Silent	SNP	C	C	T	rs368433791		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73492414C>T	ENST00000314256.7	+	24	3499	c.3105C>T	c.(3103-3105)ggC>ggT	p.G1035G	KIAA0195_ENST00000579208.1_Silent_p.G686G|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Silent_p.G1045G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1035						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGACCTTTGGCTACGCCACCA	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19966	0.0		0.0	False		,,,				2504	0.0					ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3103-3105)ggC>ggT		KIAA0195		C		1,4405	2.1+/-5.4	0,1,2202	119.0	96.0	103.0		3105	5.5	1.0	17		103	0,8600		0,0,4300	no	coding-synonymous	KIAA0195	NM_014738.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1035/1357	73492414	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73492414C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3105C>T	17.37:g.73492414C>T						KIAA0195_ENST00000579208.1_Silent_p.G686G|KIAA0195_ENST00000375248.5_Silent_p.G1045G	p.G1035G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		24	3499	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1035					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.3105C>T	CCDS32732.1																																																																																				0.622	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		16	27	0	0	0	1	0	16	27				
MARVELD3	91862	broad.mit.edu	37	16	71674836	71674836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71674836G>A	ENST00000299952.4	+	3	1182	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	383	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGGCCCTGCGTAGCTACCGA	0.572																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(1138-1140)cGt>cAt		MARVEL domain containing 3							55.0	44.0	48.0					16																	71674836		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71674836G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1139G>A	16.37:g.71674836G>A	ENSP00000299952:p.Arg380His					MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	p.R380H	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	1182	+		Ovarian(137;0.125)	383			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1139G>A	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671990	0.67928	.	.	ENSG00000140832	ENST00000299952	D	0.87412	-2.25	5.67	4.72	0.59763	.	0.152170	0.52532	D	0.000067	D	0.90359	0.6983	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.59288	0.855	D	0.90300	0.4329	9	0.87932	D	0	-25.0948	7.3175	0.26509	0.0844:0.0:0.7485:0.1671	.	380	Q96A59-2	.	H	380	ENSP00000299952:R380H	ENSP00000299952:R380H	R	+	2	0	MARVELD3	70232337	0.993000	0.37304	0.971000	0.41717	0.672000	0.39443	1.081000	0.30791	1.407000	0.46875	0.655000	0.94253	CGT		0.572	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		11	30	0	0	0	1	0	11	30				
DNHD1	144132	broad.mit.edu	37	11	6524151	6524151	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6524151C>T	ENST00000527990.2	+	2	915	c.915C>T	c.(913-915)taC>taT	p.Y305Y	DNHD1_ENST00000354685.3_Silent_p.Y305Y|DNHD1_ENST00000254579.6_Silent_p.Y305Y			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	305					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGCCGGTACTTTAGGTGAT	0.532																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(913-915)taC>taT		dynein heavy chain domain 1							88.0	80.0	83.0					11																	6524151		2201	4296	6497	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6524151C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.915C>T	11.37:g.6524151C>T						DNHD1_ENST00000354685.3_Silent_p.Y305Y|DNHD1_ENST00000527990.2_Silent_p.Y305Y	p.Y305Y	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	1479	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	305					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.915C>T	CCDS44532.1																																																																																				0.532	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		15	15	0	0	0	1	0	15	15				
CAPN3	825	broad.mit.edu	37	15	42681142	42681142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42681142G>A	ENST00000397163.3	+	5	868	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CAPN3_ENST00000318023.7_Missense_Mutation_p.E217K|CAPN3_ENST00000349748.3_Missense_Mutation_p.E217K|CAPN3_ENST00000357568.3_Missense_Mutation_p.E217K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.E130K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	217	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		E -> K (in LGMD2A).|Missing (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGGTTCCTACGAAGCTCTGAA	0.507																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47	GRCh37	CM990305	CAPN3	M		c.(649-651)Gaa>Aaa		calpain 3, (p94)							118.0	118.0	118.0					15																	42681142		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681142G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.649G>A	15.37:g.42681142G>A	ENSP00000380349:p.Glu217Lys					CAPN3_ENST00000349748.3_Missense_Mutation_p.E217K|CAPN3_ENST00000356316.3_Missense_Mutation_p.E130K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Missense_Mutation_p.E217K|CAPN3_ENST00000357568.3_Missense_Mutation_p.E217K	p.E217K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	868	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	217		E -> K (in LGMD2A).|Missing (in LGMD2A).	Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.649G>A	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577012	0.96565	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55;-4.55	5.41	5.41	0.78517	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.99115	0.9695	M	0.94101	3.495	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	0.91635	0.976;0.999;0.991;0.998;0.999;0.999	D	0.99305	1.0902	10	0.87932	D	0	.	19.398	0.94614	0.0:0.0:1.0:0.0	.	130;130;217;217;217;130	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	K	130;217;217;217;217	ENSP00000348667:E130K;ENSP00000380349:E217K;ENSP00000350181:E217K;ENSP00000183936:E217K;ENSP00000326281:E217K	ENSP00000326281:E217K	E	+	1	0	CAPN3	40468434	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.528000	0.98046	2.826000	0.97356	0.561000	0.74099	GAA		0.507	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			39	80	0	0	0	1	0	39	80				
SH3GL2	6456	broad.mit.edu	37	9	17786520	17786520	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:17786520T>C	ENST00000380607.4	+	4	449	c.329T>C	c.(328-330)tTt>tCt	p.F110S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.F63S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	110	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATTGCAACTTTGGTAACAAG	0.468																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(328-330)tTt>tCt		SH3-domain GRB2-like 2							90.0	82.0	85.0					9																	17786520		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17786520T>C	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.329T>C	9.37:g.17786520T>C	ENSP00000369981:p.Phe110Ser					SH3GL2_ENST00000537391.1_Missense_Mutation_p.F63S	p.F110S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	4	449	+			110			BAR.|Binds and tubulates liposomes (By similarity).		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.329T>C	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417005	0.62511	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.32753	1.44;1.44	5.97	5.97	0.96955	BAR (3);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72472	-0.4283	10	0.87932	D	0	.	16.4454	0.83928	0.0:0.0:0.0:1.0	.	75;110	B7Z7W3;Q99962	.;SH3G2_HUMAN	S	88;110;63	ENSP00000369981:F110S;ENSP00000443365:F63S	ENSP00000369981:F110S	F	+	2	0	SH3GL2	17776520	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	7.982000	0.88131	2.275000	0.75901	0.533000	0.62120	TTT		0.468	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		5	44	0	0	0	1	0	5	44				
RPS6KC1	26750	broad.mit.edu	37	1	213277798	213277798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213277798C>T	ENST00000366960.3	+	4	415	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.R77*|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	89	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATTGTAGGGCGATTTGATGA	0.393																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(265-267)Cga>Tga		ribosomal protein S6 kinase, 52kDa, polypeptide 1							161.0	152.0	155.0					1																	213277798		2203	4300	6503	SO:0001587	stop_gained	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213277798C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.265C>T	1.37:g.213277798C>T	ENSP00000355927:p.Arg89*					RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.R77*	p.R89*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	4	415	+			89			PX.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Nonsense_Mutation	SNP	ENST00000366960.3	37	c.265C>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	38	6.752074	0.97813	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	.	.	.	5.53	4.6	0.57074	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.075	13.6062	0.62048	0.2824:0.7176:0.0:0.0	.	.	.	.	X	89;77	.	ENSP00000355926:R77X	R	+	1	2	RPS6KC1	211344421	1.000000	0.71417	0.940000	0.37924	0.946000	0.59487	4.608000	0.61141	1.419000	0.47118	0.655000	0.94253	CGA		0.393	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		52	46	0	0	0	1	0	52	46				
TG	7038	broad.mit.edu	37	8	134024203	134024203	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134024203T>G	ENST00000220616.4	+	36	6360	c.6320T>G	c.(6319-6321)aTt>aGt	p.I2107S	TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.I2050S|TG_ENST00000542445.1_Missense_Mutation_p.I477S|TG_ENST00000519543.1_Missense_Mutation_p.I240S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2107					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCCATCCATTAGGCACTTT	0.537																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6319-6321)aTt>aGt		thyroglobulin							282.0	246.0	258.0					8																	134024203		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134024203T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6320T>G	8.37:g.134024203T>G	ENSP00000220616:p.Ile2107Ser					TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.I477S|TG_ENST00000377869.1_Missense_Mutation_p.I2050S|TG_ENST00000519543.1_Missense_Mutation_p.I240S	p.I2107S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	36	6360	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2107					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6320T>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.79|14.79	2.639165|2.639165	0.47153|0.47153	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70869	.|-0.31;-0.33;-0.52;-0.39	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.232460	.|0.30003	.|N	.|0.010641	T|T	0.81235|0.81235	0.4780|0.4780	M|M	0.76574|0.76574	2.34|2.34	0.27974|0.27974	N|N	0.936293|0.936293	.|P;D;D	.|0.71674	.|0.952;0.989;0.998	.|P;P;P	.|0.62014	.|0.475;0.836;0.897	T|T	0.77338|0.77338	-0.2625|-0.2625	5|10	.|0.87932	.|D	.|0	.|.	12.1461|12.1461	0.54024|0.54024	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|240;477;2107	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Q|S	562|2050;913;2107;477;240	.|ENSP00000367100:I2050S;ENSP00000220616:I2107S;ENSP00000441693:I477S;ENSP00000430430:I240S	.|ENSP00000220616:I2107S	H|I	+|+	3|2	2|0	TG|TG	134093385|134093385	0.248000|0.248000	0.23930|0.23930	0.159000|0.159000	0.22649|0.22649	0.708000|0.708000	0.40852|0.40852	2.611000|2.611000	0.46334|0.46334	2.134000|2.134000	0.65973|0.65973	0.460000|0.460000	0.39030|0.39030	CAT|ATT		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		34	265	0	0	0	1	0	34	265				
GPATCH3	63906	broad.mit.edu	37	1	27223972	27223972	+	Silent	SNP	G	G	A	rs149060380		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27223972G>A	ENST00000361720.5	-	2	719	c.696C>T	c.(694-696)taC>taT	p.Y232Y		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	232							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGCCGTAGCGCCGGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.001					ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(694-696)taC>taT		G patch domain containing 3		G		0,4406		0,0,2203	131.0	136.0	134.0		696	-7.2	0.7	1	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPATCH3	NM_022078.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		232/526	27223972	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27223972G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.696C>T	1.37:g.27223972G>A							p.Y232Y	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	719	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	232					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.696C>T	CCDS290.1																																																																																				0.567	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		17	131	0	0	0	1	0	17	131				
ADAM15	8751	broad.mit.edu	37	1	155029698	155029698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155029698C>T	ENST00000356955.2	+	12	1284	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R379*|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R395*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R405*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R395*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368413.1_Nonsense_Mutation_p.R101*|ADAM15_ENST00000368410.2_Nonsense_Mutation_p.R101*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	395	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACTGCAGCCGACGGGCCCT	0.632																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(1183-1185)Cga>Tga		ADAM metallopeptidase domain 15							34.0	38.0	37.0					1																	155029698		2203	4300	6503	SO:0001587	stop_gained	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155029698C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1183C>T	1.37:g.155029698C>T	ENSP00000349436:p.Arg395*					ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R395*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368413.1_Nonsense_Mutation_p.R101*|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R379*|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R405*|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368410.2_Nonsense_Mutation_p.R101*	p.R395*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		12	1284	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		395			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Nonsense_Mutation	SNP	ENST00000356955.2	37	c.1183C>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681314	0.88542	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	.	.	.	4.96	2.91	0.33838	.	0.229752	0.22661	N	0.057199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7593	0.51892	0.3275:0.6725:0.0:0.0	.	.	.	.	X	395;395;395;395;395;395;101;395;101;405	.	ENSP00000271836:R395X	R	+	1	2	ADAM15	153296322	0.055000	0.20627	0.993000	0.49108	0.990000	0.78478	0.252000	0.18278	1.299000	0.44798	0.643000	0.83706	CGA		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		13	21	0	0	0	1	0	13	21				
KDM2A	22992	broad.mit.edu	37	11	67018104	67018104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67018104A>G	ENST00000529006.2	+	17	3049	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Missense_Mutation_p.D326G|KDM2A_ENST00000530342.1_Missense_Mutation_p.D429G	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	868					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						gaggaagaTGACAGTGCAGAG	0.652																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2602-2604)gAc>gGc		lysine (K)-specific demethylase 2A							32.0	39.0	37.0					11																	67018104		2142	4237	6379	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018104A>G	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2603A>G	11.37:g.67018104A>G	ENSP00000432786:p.Asp868Gly					KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Missense_Mutation_p.D429G|KDM2A_ENST00000308783.5_Missense_Mutation_p.D326G	p.D868G	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3049	+			868					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.2603A>G	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408488	0.25378	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.23950	2.25;1.88;1.89	5.78	5.78	0.91487	.	1.326850	0.04503	N	0.381649	T	0.18173	0.0436	N	0.08118	0	0.37930	D	0.931968	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.03875	-1.0996	9	.	.	.	-18.9879	14.3532	0.66719	1.0:0.0:0.0:0.0	.	326;868	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	G	868;429;326	ENSP00000432786:D868G;ENSP00000435776:D429G;ENSP00000309302:D326G	.	D	+	2	0	KDM2A	66774680	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.298000	0.72763	2.207000	0.71202	0.460000	0.39030	GAC		0.652	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		3	31	0	0	0	1	0	3	31				
RAB3D	9545	broad.mit.edu	37	19	11447954	11447954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11447954C>T	ENST00000222120.3	-	2	382	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	RAB3D_ENST00000589655.1_Missense_Mutation_p.R41Q	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	41					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GTCCGCGTATCGGAACAGGAA	0.537																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(121-123)cGa>cAa		RAB3D, member RAS oncogene family							349.0	284.0	306.0					19																	11447954		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11447954C>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.122G>A	19.37:g.11447954C>T	ENSP00000222120:p.Arg41Gln					RAB3D_ENST00000589655.1_Missense_Mutation_p.R41Q	p.R41Q	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			2	382	-			41						Missense_Mutation	SNP	ENST00000222120.3	37	c.122G>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135283	0.77662	.	.	ENSG00000105514	ENST00000222120	D	0.81739	-1.53	4.36	4.36	0.52297	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89003	0.3423	10	0.87932	D	0	.	16.1598	0.81693	0.0:1.0:0.0:0.0	.	41	O95716	RAB3D_HUMAN	Q	41	ENSP00000222120:R41Q	ENSP00000222120:R41Q	R	-	2	0	RAB3D	11308954	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	7.590000	0.82653	2.423000	0.82170	0.591000	0.81541	CGA		0.537	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		114	186	0	0	0	1	0	114	186				
SPTBN1	6711	broad.mit.edu	37	2	54845255	54845255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54845255G>A	ENST00000356805.4	+	7	969	c.688G>A	c.(688-690)Gca>Aca	p.A230T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A217T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	230	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAATCTAACGCACACTACAA	0.438																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(649-651)Gca>Aca		spectrin, beta, non-erythrocytic 1							109.0	106.0	107.0					2																	54845255		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54845255G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.688G>A	2.37:g.54845255G>A	ENSP00000349259:p.Ala230Thr					SPTBN1_ENST00000356805.4_Missense_Mutation_p.A230T	p.A217T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		6	1034	+			230			Actin-binding.|CH 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.649G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797410	0.96952	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	D;D;D	0.95171	-3.63;-3.63;-3.63	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.81497	2.545	0.80722	D	1	D;D	0.67145	0.987;0.996	P;P	0.62885	0.63;0.908	D	0.97459	1.0033	10	0.87932	D	0	.	19.5255	0.95203	0.0:0.0:1.0:0.0	.	217;230	Q01082-3;Q01082	.;SPTB2_HUMAN	T	230;230;217	ENSP00000349259:A230T;ENSP00000374630:A230T;ENSP00000334156:A217T	ENSP00000334156:A217T	A	+	1	0	SPTBN1	54698759	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.624000	0.88883	0.650000	0.86243	GCA		0.438	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			15	51	0	0	0	1	0	15	51				
SUCO	51430	broad.mit.edu	37	1	172558792	172558792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172558792C>T	ENST00000263688.3	+	18	2770	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	SUCO_ENST00000367723.4_Nonsense_Mutation_p.Q1002*|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Nonsense_Mutation_p.Q1003*	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	851					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CACAGCAAAGCAAACTTTGAT	0.418																																						ENST00000367723.3																			0											c.(3007-3009)Caa>Taa		SUN domain containing ossification factor							55.0	55.0	55.0					1																	172558792		2203	4299	6502	SO:0001587	stop_gained	51430							g.chr1:172558792C>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2551C>T	1.37:g.172558792C>T	ENSP00000263688:p.Gln851*					SUCO_ENST00000263688.3_Nonsense_Mutation_p.Q851*	p.Q1003*	NM_016227.2	NP_057311.2					17	3131	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Nonsense_Mutation	SNP	ENST00000263688.3	37	c.3007C>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	41	8.565723	0.98866	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.29	5.29	0.74685	.	0.706948	0.14546	N	0.312972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-1.1827	17.492	0.87707	0.0:1.0:0.0:0.0	.	.	.	.	X	1003;851	.	ENSP00000263688:Q851X	Q	+	1	0	C1orf9	170825415	0.998000	0.40836	0.986000	0.45419	0.981000	0.71138	3.796000	0.55507	2.460000	0.83146	0.655000	0.94253	CAA		0.418	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		21	33	0	0	0	1	0	21	33				
HSF4	3299	broad.mit.edu	37	16	67201093	67201093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67201093G>A	ENST00000521374.1	+	7	697	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	HSF4_ENST00000264009.8_Missense_Mutation_p.A233T|HSF4_ENST00000421453.1_Missense_Mutation_p.A233T|HSF4_ENST00000584272.1_Missense_Mutation_p.A233T|HSF4_ENST00000517867.1_3'UTR			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	233					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTACCTGGTGCCCTTCTGCA	0.597																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(697-699)Gcc>Acc		heat shock transcription factor 4							143.0	156.0	152.0					16																	67201093		2057	4200	6257	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67201093G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.697G>A	16.37:g.67201093G>A	ENSP00000430947:p.Ala233Thr					HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.A233T|HSF4_ENST00000421453.1_Missense_Mutation_p.A233T|HSF4_ENST00000521374.1_Missense_Mutation_p.A233T	p.A233T	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	9	1662	+		Ovarian(137;0.0563)	233					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.697G>A	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.21|11.21	1.570436|1.570436	0.28003|0.28003	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729|ENST00000519601	.|.	.|.	.|.	4.72|4.72	0.305|0.305	0.15801|0.15801	.|.	0.590738|.	0.16974|.	N|.	0.191978|.	T|T	0.19005|0.19005	0.0456|0.0456	N|N	0.14661|0.14661	0.345|0.345	0.24366|0.24366	N|N	0.994851|0.994851	B;B|.	0.10296|.	0.003;0.003|.	B;B|.	0.13407|.	0.009;0.003|.	T|T	0.28170|0.28170	-1.0052|-1.0052	9|5	0.14252|.	T|.	0.57|.	-1.3768|-1.3768	5.6747|5.6747	0.17741|0.17741	0.2812:0.1582:0.5607:0.0|0.2812:0.1582:0.5607:0.0	.|.	233;233|.	Q9ULV5-2;Q9ULV5|.	.;HSF4_HUMAN|.	T|Y	233;233;233;233;170|7	.|.	ENSP00000264009:A233T|.	A|C	+|+	1|2	0|0	HSF4|HSF4	65758594|65758594	0.996000|0.996000	0.38824|0.38824	0.994000|0.994000	0.49952|0.49952	0.992000|0.992000	0.81027|0.81027	2.432000|2.432000	0.44784|0.44784	0.225000|0.225000	0.20959|0.20959	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.597	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		27	39	0	0	0	1	0	27	39				
RACGAP1	29127	broad.mit.edu	37	12	50400277	50400277	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50400277A>G	ENST00000427314.2	-	5	451	c.228T>C	c.(226-228)cgT>cgC	p.R76R	RACGAP1_ENST00000434422.1_Silent_p.R76R|RACGAP1_ENST00000454520.2_Silent_p.R76R|RACGAP1_ENST00000312377.5_Silent_p.R76R|RACGAP1_ENST00000547905.1_Silent_p.R76R|RACGAP1_ENST00000551016.1_Silent_p.R76R	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CCACCTGATTACGTGCATGCT	0.483																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(226-228)cgT>cgC		Rac GTPase activating protein 1							229.0	186.0	200.0					12																	50400277		2203	4300	6503	SO:0001819	synonymous_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50400277A>G		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.228T>C	12.37:g.50400277A>G						RACGAP1_ENST00000551016.1_Silent_p.R76R|RACGAP1_ENST00000312377.5_Silent_p.R76R|RACGAP1_ENST00000427314.2_Silent_p.R76R|RACGAP1_ENST00000454520.2_Silent_p.R76R|RACGAP1_ENST00000547905.1_Silent_p.R76R	p.R76R			Q9H0H5	RGAP1_HUMAN			4	529	-			76						Silent	SNP	ENST00000427314.2	37	c.228T>C	CCDS8795.1																																																																																				0.483	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		48	58	0	0	0	1	0	48	58				
KIAA2022	340533	broad.mit.edu	37	X	73960955	73960955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960955G>T	ENST00000055682.6	-	3	4048	c.3437C>A	c.(3436-3438)tCt>tAt	p.S1146Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1146					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAGGCTGACAGAATCCTCATC	0.393																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(3436-3438)tCt>tAt		KIAA2022							101.0	95.0	97.0					X																	73960955		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960955G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3437C>A	X.37:g.73960955G>T	ENSP00000055682:p.Ser1146Tyr					KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1146Y	p.S1146Y			Q5QGS0	K2022_HUMAN			3	4088	-			1146					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3437C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540456	0.45176	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33438	1.41;1.41	5.27	5.27	0.74061	.	0.546305	0.20998	N	0.081905	T	0.45677	0.1354	L	0.29908	0.895	0.42620	D	0.993345	D	0.76494	0.999	D	0.71656	0.974	T	0.49143	-0.8970	10	0.87932	D	0	-10.0003	18.0184	0.89248	0.0:0.0:1.0:0.0	.	1146	Q5QGS0	K2022_HUMAN	Y	1146	ENSP00000362567:S1146Y;ENSP00000055682:S1146Y	ENSP00000055682:S1146Y	S	-	2	0	KIAA2022	73877680	1.000000	0.71417	0.992000	0.48379	0.735000	0.41995	4.509000	0.60448	2.189000	0.69895	0.597000	0.82753	TCT		0.393	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		50	67	1	0	5.13769e-22	1	6.77655e-22	50	67				
CORO1C	23603	broad.mit.edu	37	12	109095064	109095064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109095064G>A	ENST00000261401.3	-	2	203	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	CORO1C_ENST00000420959.2_Missense_Mutation_p.R64W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R17W|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.R11W	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	11					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AATACATGCCGAAACTTGCTC	0.443																																						ENST00000261401.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						c.(31-33)Cgg>Tgg		coronin, actin binding protein, 1C							152.0	124.0	134.0					12																	109095064		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109095064G>A	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.31C>T	12.37:g.109095064G>A	ENSP00000261401:p.Arg11Trp					CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Missense_Mutation_p.R64W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R17W|CORO1C_ENST00000541050.1_Missense_Mutation_p.R11W	p.R11W	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN			2	203	-			11					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.31C>T	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577721	0.86645	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000549772;ENST00000420959;ENST00000547294;ENST00000550032;ENST00000551550;ENST00000546571;ENST00000551044	T;T;T;T;T;T;T;T;D	0.84873	-1.02;-1.02;-0.98;-1.19;-1.11;-0.71;-1.24;-1.47;-1.91	5.42	3.4	0.38934	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94969	0.8115	10	0.87932	D	0	-2.4426	11.8184	0.52224	0.0709:0.0:0.7982:0.131	.	11;64;11	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	W	11;11;17;64;11;11;11;11;11	ENSP00000261401:R11W;ENSP00000438341:R11W;ENSP00000447534:R17W;ENSP00000394496:R64W;ENSP00000449330:R11W;ENSP00000447989:R11W;ENSP00000448527:R11W;ENSP00000448195:R11W;ENSP00000447049:R11W	ENSP00000261401:R11W	R	-	1	2	CORO1C	107619193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.534000	0.82004	1.294000	0.44707	0.586000	0.80456	CGG		0.443	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		5	76	0	0	0	1	0	5	76				
TMEM82	388595	broad.mit.edu	37	1	16070707	16070707	+	Missense_Mutation	SNP	C	C	T	rs201931376		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16070707C>T	ENST00000375782.1	+	4	527	c.389C>T	c.(388-390)tCg>tTg	p.S130L	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	130	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGTACTCGCTGGGCTGC	0.706																																						ENST00000375782.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13						c.(388-390)tCg>tTg		transmembrane protein 82																																				SO:0001583	missense	388595					integral to membrane		g.chr1:16070707C>T		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.389C>T	1.37:g.16070707C>T	ENSP00000364938:p.Ser130Leu					RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	p.S130L	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	527	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	130			Leu-rich.		B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	c.389C>T	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413999	0.96072	.	.	ENSG00000162460	ENST00000375782	T	0.59224	0.28	5.03	5.03	0.67393	.	0.124029	0.56097	D	0.000029	T	0.71813	0.3384	M	0.76328	2.33	0.52099	D	0.999946	D	0.76494	0.999	P	0.55011	0.766	T	0.76806	-0.2823	10	0.87932	D	0	-6.8749	18.711	0.91656	0.0:1.0:0.0:0.0	.	130	A0PJX8	TMM82_HUMAN	L	130	ENSP00000364938:S130L	ENSP00000364938:S130L	S	+	2	0	TMEM82	15943294	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.360000	0.79487	2.489000	0.83994	0.655000	0.94253	TCG		0.706	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		6	8	0	0	0	1	0	6	8				
RAP1GAP	5909	broad.mit.edu	37	1	21937987	21937987	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21937987G>A	ENST00000374765.4	-	13	1001	c.801C>T	c.(799-801)caC>caT	p.H267H	RAP1GAP_ENST00000542643.2_Silent_p.H267H|RAP1GAP_ENST00000290101.4_Silent_p.H331H|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000374763.2_Silent_p.H267H|RAP1GAP_ENST00000374761.2_Silent_p.H298H	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	267	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGTGGACACGTGAAACATGA	0.642																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(799-801)caC>caT		RAP1 GTPase activating protein							146.0	114.0	125.0					1																	21937987		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21937987G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.801C>T	1.37:g.21937987G>A						RAP1GAP_ENST00000374763.2_Silent_p.H267H|RAP1GAP_ENST00000374765.4_Silent_p.H267H|RAP1GAP_ENST00000290101.4_Silent_p.H331H|RAP1GAP_ENST00000374761.2_Silent_p.H298H	p.H267H	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	14	1103	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	267			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.801C>T	CCDS218.1																																																																																				0.642	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		19	20	0	0	0	1	0	19	20				
B4GALNT4	338707	broad.mit.edu	37	11	380183	380183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:380183C>T	ENST00000329962.6	+	17	2696	c.2696C>T	c.(2695-2697)gCg>gTg	p.A899V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	899					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTGCAGGCGGGAGTGGAC	0.711																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2695-2697)gCg>gTg		beta-1,4-N-acetyl-galactosaminyl transferase 4							17.0	22.0	20.0					11																	380183		2197	4297	6494	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380183C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2696C>T	11.37:g.380183C>T	ENSP00000328277:p.Ala899Val						p.A899V	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	17	2696	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	899					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2696C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	14.29	2.491001	0.44249	.	.	ENSG00000182272	ENST00000329962	T	0.35048	1.33	4.45	3.52	0.40303	.	0.393919	0.27976	N	0.017098	T	0.33556	0.0867	L	0.58669	1.825	0.26456	N	0.975529	P	0.38642	0.641	B	0.34824	0.19	T	0.13872	-1.0493	10	0.31617	T	0.26	-10.9753	14.6673	0.68918	0.0:0.8536:0.1464:0.0	.	899	Q76KP1	B4GN4_HUMAN	V	899	ENSP00000328277:A899V	ENSP00000328277:A899V	A	+	2	0	B4GALNT4	370183	0.998000	0.40836	0.128000	0.21923	0.562000	0.35680	3.495000	0.53280	0.970000	0.38263	0.561000	0.74099	GCG		0.711	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		4	21	0	0	0	1	0	4	21				
NPBWR1	2831	broad.mit.edu	37	8	53852687	53852687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53852687C>A	ENST00000331251.3	+	1	1697	c.220C>A	c.(220-222)Ctg>Atg	p.L74M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	74					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGTCACCAACCTGTTCATCCT	0.647																																						ENST00000331251.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(220-222)Ctg>Atg		neuropeptides B/W receptor 1							62.0	48.0	53.0					8																	53852687		2203	4300	6503	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852687C>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.220C>A	8.37:g.53852687C>A	ENSP00000330284:p.Leu74Met						p.L74M	NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN			1	1697	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	74					Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.220C>A	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299151	0.40694	.	.	ENSG00000183729	ENST00000331251	T	0.73047	-0.71	4.74	0.466	0.16716	GPCR, rhodopsin-like superfamily (1);	0.515087	0.14734	N	0.301574	T	0.46308	0.1386	N	0.13327	0.33	0.28030	N	0.934154	B	0.17038	0.02	B	0.23716	0.048	T	0.31668	-0.9935	10	0.42905	T	0.14	.	1.2349	0.01951	0.4385:0.2517:0.1241:0.1857	.	74	P48145	NPBW1_HUMAN	M	74	ENSP00000330284:L74M	ENSP00000330284:L74M	L	+	1	2	NPBWR1	54015240	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.821000	0.27338	0.199000	0.20427	-0.140000	0.14226	CTG		0.647	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		10	12	1	0	0.00621372	1	0.00652201	10	12				
ACER1	125981	broad.mit.edu	37	19	6312496	6312496	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312496G>T	ENST00000301452.4	-	2	185	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	36					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGATGAAGAAGGGGATATTGG	0.557																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(106-108)ccC>ccA		alkaline ceramidase 1							103.0	90.0	94.0					19																	6312496		2203	4300	6503	SO:0001819	synonymous_variant	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6312496G>T	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.108C>A	19.37:g.6312496G>T							p.P36P	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			2	185	-			36						Silent	SNP	ENST00000301452.4	37	c.108C>A	CCDS12161.1																																																																																				0.557	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		7	55	1	0	0.00307968	1	0.00325696	7	55				
GALNT8	26290	broad.mit.edu	37	12	4872542	4872542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4872542G>A	ENST00000252318.2	+	8	1820	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	495					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCACACCATCGTGGGCTATGG	0.418																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1483-1485)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							115.0	112.0	113.0					12																	4872542		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4872542G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1483G>A	12.37:g.4872542G>A	ENSP00000252318:p.Val495Met						p.V495M	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			8	1820	+			495					B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1483G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908720	0.17833	.	.	ENSG00000130035	ENST00000252318	T	0.32272	1.46	4.17	3.28	0.37604	Ricin B-related lectin (1);	0.732091	0.10864	U	0.625724	T	0.22322	0.0538	L	0.55834	1.745	0.09310	N	1	P	0.45428	0.858	B	0.31101	0.124	T	0.16778	-1.0391	10	0.46703	T	0.11	.	6.5304	0.22324	0.2174:0.0:0.7826:0.0	.	495	Q9NY28	GALT8_HUMAN	M	495	ENSP00000252318:V495M	ENSP00000252318:V495M	V	+	1	0	GALNT8	4742803	0.068000	0.21057	0.273000	0.24645	0.287000	0.27160	0.611000	0.24268	0.965000	0.38133	-0.137000	0.14449	GTG		0.418	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		55	73	0	0	0	1	0	55	73				
NCAPD2	9918	broad.mit.edu	37	12	6637969	6637969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6637969G>A	ENST00000315579.5	+	26	4223	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K	NCAPD2_ENST00000545962.1_Missense_Mutation_p.E1097K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1142					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATCGACCCCGAGCCTCAGAT	0.592																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(3424-3426)Gag>Aag		non-SMC condensin I complex, subunit D2							69.0	66.0	67.0					12																	6637969		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637969G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3424G>A	12.37:g.6637969G>A	ENSP00000325017:p.Glu1142Lys					NCAPD2_ENST00000545962.1_Missense_Mutation_p.E1097K	p.E1142K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			26	4223	+			1142					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3424G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310682	0.40895	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.13420	2.59;2.59	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.333784	0.35040	N	0.003496	T	0.21468	0.0517	M	0.71036	2.16	0.52501	D	0.999954	B;B	0.18310	0.027;0.013	B;B	0.14578	0.01;0.011	T	0.01972	-1.1237	10	0.46703	T	0.11	-3.3403	19.4202	0.94719	0.0:0.0:1.0:0.0	.	1097;1142	F5GZJ1;Q15021	.;CND1_HUMAN	K	1142;1097	ENSP00000325017:E1142K;ENSP00000444417:E1097K	ENSP00000325017:E1142K	E	+	1	0	NCAPD2	6508230	1.000000	0.71417	0.088000	0.20740	0.959000	0.62525	7.389000	0.79806	2.825000	0.97269	0.655000	0.94253	GAG		0.592	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		4	34	0	0	0	1	0	4	34				
SCN5A	6331	broad.mit.edu	37	3	38618220	38618220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38618220G>A	ENST00000333535.4	-	19	3592	c.3443C>T	c.(3442-3444)gCt>gTt	p.A1148V	SCN5A_ENST00000425664.1_Missense_Mutation_p.A1148V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1148V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1148V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1147V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1094V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1148					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGGAGCTCAGCGGTGTTGGT	0.622																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3442-3444)gCt>gTt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						48.0	55.0	53.0					3																	38618220		2164	4272	6436	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38618220G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3443C>T	3.37:g.38618220G>A	ENSP00000328968:p.Ala1148Val					SCN5A_ENST00000451551.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1147V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1148V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1148V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1148V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1147V	p.A1148V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	19	3636	-	Medulloblastoma(35;0.163)		1148					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3443C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289449	0.40494	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.47	3.59	0.41128	Sodium ion transport-associated (1);	0.294518	0.37857	N	0.001906	T	0.73048	0.3537	N	0.17901	0.54	0.37184	D	0.90363	B;B;B;B;B;B;B	0.32693	0.051;0.27;0.082;0.1;0.151;0.38;0.012	B;B;B;B;B;B;B	0.42030	0.06;0.136;0.059;0.098;0.073;0.373;0.008	T	0.70733	-0.4791	10	0.31617	T	0.26	.	6.7341	0.23399	0.0969:0.178:0.7251:0.0	.	1094;1147;1148;1148;1148;1147;1148	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	1148;1147;1148;1094;1147;1148;1148;1147;1094;1094	ENSP00000398962:A1148V;ENSP00000398266:A1147V;ENSP00000410257:A1148V;ENSP00000388797:A1094V;ENSP00000397915:A1147V;ENSP00000416634:A1148V;ENSP00000328968:A1148V;ENSP00000399524:A1147V;ENSP00000403355:A1094V;ENSP00000413996:A1094V	ENSP00000328968:A1148V	A	-	2	0	SCN5A	38593224	0.676000	0.27567	0.506000	0.27664	0.926000	0.56050	1.268000	0.33062	1.239000	0.43787	0.655000	0.94253	GCT		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		10	10	0	0	0	1	0	10	10				
ZNF628	89887	broad.mit.edu	37	19	55994999	55994999	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55994999G>A	ENST00000598519.1	+	3	2992	c.2439G>A	c.(2437-2439)caG>caA	p.Q813Q	NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.Q809Q|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	813					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCACAGGAAATGAGTG	0.682																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2425-2427)caG>caA		zinc finger protein 628							43.0	53.0	50.0					19																	55994999		2203	4299	6502	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994999G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2439G>A	19.37:g.55994999G>A						ZNF628_ENST00000598519.1_Silent_p.Q813Q	p.Q809Q			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2992	+	Breast(117;0.155)		809					Q86X34	Silent	SNP	ENST00000598519.1	37	c.2427G>A	CCDS33116.3																																																																																				0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		6	61	0	0	0	1	0	6	61				
CUL2	8453	broad.mit.edu	37	10	35333549	35333549	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35333549T>G	ENST00000374748.1	-	9	972	c.659A>C	c.(658-660)aAa>aCa	p.K220T	CUL2_ENST00000374746.1_Missense_Mutation_p.K220T|CUL2_ENST00000374751.3_Missense_Mutation_p.K220T|CUL2_ENST00000602371.1_Missense_Mutation_p.K163T|CUL2_ENST00000374742.1_Missense_Mutation_p.K220T|CUL2_ENST00000374749.3_Missense_Mutation_p.K220T|CUL2_ENST00000537177.1_Missense_Mutation_p.K239T			Q13617	CUL2_HUMAN	cullin 2	220					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AGCTTCTTGTTTGTAATACTC	0.284																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(658-660)aAa>aCa		cullin 2							59.0	64.0	62.0					10																	35333549		2202	4292	6494	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35333549T>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.659A>C	10.37:g.35333549T>G	ENSP00000363880:p.Lys220Thr					CUL2_ENST00000374749.3_Missense_Mutation_p.K220T|CUL2_ENST00000602371.1_Missense_Mutation_p.K163T|CUL2_ENST00000537177.1_Missense_Mutation_p.K239T|CUL2_ENST00000374746.1_Missense_Mutation_p.K220T|CUL2_ENST00000374742.1_Missense_Mutation_p.K220T|CUL2_ENST00000374751.3_Missense_Mutation_p.K220T	p.K220T			Q13617	CUL2_HUMAN			9	972	-			220					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.659A>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602156	0.46423	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.88	5.88	0.94601	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	N	0.04116	-0.275	0.80722	D	1	B;B;B	0.24092	0.097;0.054;0.055	B;B;B	0.30316	0.114;0.061;0.101	T	0.54866	-0.8229	10	0.06494	T	0.89	-32.7048	16.2961	0.82769	0.0:0.0:0.0:1.0	.	220;239;220	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	T	220;220;220;220;163;220;239	ENSP00000363883:K220T;ENSP00000363880:K220T;ENSP00000363878:K220T;ENSP00000363881:K220T;ENSP00000363874:K220T;ENSP00000444856:K239T	ENSP00000363874:K220T	K	-	2	0	CUL2	35373555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.250000	0.74265	0.454000	0.30748	AAA		0.284	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		22	39	0	0	0	1	0	22	39				
TMEM52	339456	broad.mit.edu	37	1	1849365	1849365	+	Missense_Mutation	SNP	C	C	A	rs200346302		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1849365C>A	ENST00000310991.3	-	5	593	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	TMEM52_ENST00000378602.3_Missense_Mutation_p.G181C	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	196						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTATTGGGGCCCGACTCCTGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18286	0.001		0.0	False		,,,				2504	0.0					ENST00000378602.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(541-543)Ggc>Tgc		transmembrane protein 52							107.0	120.0	115.0					1																	1849365		2203	4300	6503	SO:0001583	missense	339456					integral to membrane		g.chr1:1849365C>A	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.586G>T	1.37:g.1849365C>A	ENSP00000311122:p.Gly196Cys					TMEM52_ENST00000310991.3_Missense_Mutation_p.G196C	p.G181C			Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	781	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	196					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.541G>T	CCDS35.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	15.66	2.900032	0.52227	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.37411	1.2;1.25	3.28	3.28	0.37604	.	0.833617	0.10000	N	0.728645	T	0.45498	0.1345	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.65773	0.938;0.938	T	0.30268	-0.9984	10	0.59425	D	0.04	-15.0722	10.7772	0.46356	0.0:1.0:0.0:0.0	.	196;181	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	C	181;196	ENSP00000367865:G181C;ENSP00000311122:G196C	ENSP00000311122:G196C	G	-	1	0	TMEM52	1839225	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.210000	0.17455	1.761000	0.52028	0.561000	0.74099	GGC		0.612	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		10	109	1	0	0.010729	1	0.0111717	10	109				
ITGA9	3680	broad.mit.edu	37	3	37544692	37544692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37544692A>G	ENST00000264741.5	+	6	892	c.636A>G	c.(634-636)ccA>ccG	p.P212P	ITGA9_ENST00000422441.1_Silent_p.P212P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	212					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGGTGCTCCAGGGTCATTTT	0.488																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(634-636)ccA>ccG		integrin, alpha 9							159.0	149.0	152.0					3																	37544692		2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37544692A>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.636A>G	3.37:g.37544692A>G						ITGA9_ENST00000422441.1_Silent_p.P212P	p.P212P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	6	892	+			212					Q14638	Silent	SNP	ENST00000264741.5	37	c.636A>G	CCDS2669.1																																																																																				0.488	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		5	67	0	0	0	1	0	5	67				
ATP8B1	5205	broad.mit.edu	37	18	55351303	55351303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55351303G>A	ENST00000283684.4	-	14	1594	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A532V|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	532					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTGGCAAACTGCGAGCAAGAA	0.453																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(1594-1596)gCa>gTa		ATPase, aminophospholipid transporter, class I, type 8B, member 1							159.0	130.0	140.0					18																	55351303		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55351303G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1595C>T	18.37:g.55351303G>A	ENSP00000283684:p.Ala532Val					RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A532V	p.A532V	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			15	1714	-		Colorectal(73;0.229)	532					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1595C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468982	0.63625	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.87179	-2.22;-2.22	5.81	5.81	0.92471	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.290274	0.39020	N	0.001482	D	0.91895	0.7434	M	0.89715	3.055	0.53688	D	0.999976	B	0.29988	0.264	B	0.38194	0.267	D	0.91276	0.5048	10	0.87932	D	0	.	18.8501	0.92224	0.0:0.0:1.0:0.0	.	532	O43520	AT8B1_HUMAN	V	532	ENSP00000283684:A532V;ENSP00000445359:A532V	ENSP00000283684:A532V	A	-	2	0	ATP8B1	53502301	1.000000	0.71417	0.616000	0.29078	0.228000	0.25075	9.859000	0.99545	2.757000	0.94681	0.462000	0.41574	GCA		0.453	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		30	28	0	0	0	1	0	30	28				
PRKDC	5591	broad.mit.edu	37	8	48761853	48761853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48761853G>A	ENST00000314191.2	-	55	7195	c.7139C>T	c.(7138-7140)gCt>gTt	p.A2380V	PRKDC_ENST00000338368.3_Missense_Mutation_p.A2380V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2381					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAAGAACACAGCATTCATGAA	0.542								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7138-7140)gCt>gTt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							130.0	124.0	126.0					8																	48761853		1914	4142	6056	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761853G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7139C>T	8.37:g.48761853G>A	ENSP00000313420:p.Ala2380Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.A2380V|PRKDC_ENST00000523565.1_5'UTR	p.A2380V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			55	7195	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2381					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7139C>T		.	.	.	.	.	.	.	.	.	.	G	11.06	1.526628	0.27299	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.26067	1.76;1.76	4.82	3.92	0.45320	Armadillo-type fold (1);	0.522785	0.19465	N	0.113604	T	0.18593	0.0446	L	0.38175	1.15	0.28890	N	0.89388	B;B	0.15141	0.005;0.012	B;B	0.14578	0.008;0.011	T	0.12319	-1.0552	10	0.28530	T	0.3	.	8.0926	0.30809	0.0849:0.1613:0.7538:0.0	.	2380;2381	E7EUY0;P78527	.;PRKDC_HUMAN	V	2380	ENSP00000313420:A2380V;ENSP00000345182:A2380V	ENSP00000313420:A2380V	A	-	2	0	PRKDC	48924406	0.021000	0.18746	0.678000	0.29963	0.892000	0.51952	1.968000	0.40500	1.107000	0.41642	0.563000	0.77884	GCT		0.542	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		40	96	0	0	0	1	0	40	96				
SLC22A15	55356	broad.mit.edu	37	1	116563484	116563484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116563484C>T	ENST00000369503.4	+	4	706	c.576C>T	c.(574-576)ggC>ggT	p.G192G	SLC22A15_ENST00000369502.1_Silent_p.G192G	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	192					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATGTGTGGGCACCGCCTACT	0.498											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(574-576)ggC>ggT		solute carrier family 22, member 15							101.0	98.0	99.0					1																	116563484		1970	4164	6134	SO:0001819	synonymous_variant	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116563484C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.576C>T	1.37:g.116563484C>T			OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1474	SLC22A15_ENST00000369502.1_Silent_p.G192G	p.G192G	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	706	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	192					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	ENST00000369503.4	37	c.576C>T	CCDS44198.1																																																																																				0.498	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		18	44	0	0	0	1	0	18	44				
MYH9	4627	broad.mit.edu	37	22	36697595	36697595	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36697595C>T	ENST00000216181.5	-	21	2846	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	872					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTGCAGCGTCTCCATCTCCG	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2614-2616)gaG>gaA		myosin, heavy chain 9, non-muscle							155.0	103.0	121.0					22																	36697595		2202	4300	6502	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36697595C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2616G>A	22.37:g.36697595C>T			OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864		p.E872E	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			21	2846	-			872					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2616G>A	CCDS13927.1																																																																																				0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		12	19	0	0	0	1	0	12	19				
TRPC7	57113	broad.mit.edu	37	5	135583405	135583405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135583405G>T	ENST00000513104.1	-	7	1880	c.1598C>A	c.(1597-1599)cCt>cAt	p.P533H	TRPC7_ENST00000355180.3_Missense_Mutation_p.P472H|TRPC7_ENST00000426057.2_Missense_Mutation_p.P417H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	533					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGTCTGAAGGCCACCACTT	0.498																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1597-1599)cCt>cAt		transient receptor potential cation channel, subfamily C, member 7							70.0	70.0	70.0					5																	135583405		1948	4140	6088	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583405G>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1598C>A	5.37:g.135583405G>T	ENSP00000426070:p.Pro533His					TRPC7_ENST00000355180.3_Missense_Mutation_p.P472H|TRPC7_ENST00000426057.2_Missense_Mutation_p.P417H	p.P533H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1880	-			533					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1598C>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751320	0.89753	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80033	-1.16;-1.33;-1.23	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.90445	0.7008	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.999;0.998	D;D;D;D	0.74674	0.95;0.982;0.984;0.984	D	0.90419	0.4415	10	0.66056	D	0.02	-8.0828	19.9142	0.97043	0.0:0.0:1.0:0.0	.	417;472;478;533	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	472;417;533;533	ENSP00000347312:P472H;ENSP00000441628:P417H;ENSP00000426070:P533H	ENSP00000265193:P533H	P	-	2	0	TRPC7	135611304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CCT		0.498	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		19	44	1	0	1.2644e-06	1	1.46818e-06	19	44				
CDH1	999	broad.mit.edu	37	16	68847221	68847221	+	Missense_Mutation	SNP	G	G	T	rs143727462		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847221G>T	ENST00000261769.5	+	9	1334	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Intron|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	381	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCAGTACAAGGGTCAGGTGC	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		3	Deletion - In frame(2)|Unknown(1)	p.Y380_K440del(2)|p.?(1)	breast(2)|stomach(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1141-1143)aaG>aaT		cadherin 1, type 1, E-cadherin (epithelial)							131.0	119.0	123.0					16																	68847221		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68847221G>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1143G>T	16.37:g.68847221G>T	ENSP00000261769:p.Lys381Asn					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	p.K381N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	9	1334	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	381			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1143G>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762089	0.31228	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794	T	0.60548	0.18	5.53	-0.89	0.10577	Cadherin (4);Cadherin-like (1);	2.490280	0.02202	N	0.062320	T	0.35364	0.0929	N	0.10874	0.06	0.30753	N	0.744909	B	0.06786	0.001	B	0.06405	0.002	T	0.26155	-1.0111	10	0.22706	T	0.39	.	4.5858	0.12282	0.3894:0.0:0.3757:0.2349	.	381	P12830	CADH1_HUMAN	N	381	ENSP00000261769:K381N	ENSP00000261769:K381N	K	+	3	2	CDH1	67404722	0.000000	0.05858	0.007000	0.13788	0.612000	0.37316	-0.594000	0.05733	0.023000	0.15187	0.561000	0.74099	AAG		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		37	46	1	0	1.57351e-24	1	2.08775e-24	37	46				
CREB3L2	64764	broad.mit.edu	37	7	137569746	137569746	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137569746G>T	ENST00000330387.6	-	10	1616	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	CREB3L2_ENST00000456390.1_Missense_Mutation_p.S422Y	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	422					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTTACCCACGGAGGCTGTGTA	0.532			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1264-1266)tCc>tAc		cAMP responsive element binding protein 3-like 2							87.0	82.0	84.0					7																	137569746		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137569746G>T	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1265C>A	7.37:g.137569746G>T	ENSP00000329140:p.Ser422Tyr					CREB3L2_ENST00000456390.1_Missense_Mutation_p.S422Y	p.S422Y	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			10	1616	-			422					Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.1265C>A	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541955	0.85917	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.67523	-0.02;-0.27	5.69	5.69	0.88448	.	0.271888	0.36932	N	0.002329	T	0.80869	0.4706	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72982	0.969;0.979	T	0.75657	-0.3242	10	0.22706	T	0.39	-8.0436	19.8786	0.96886	0.0:0.0:1.0:0.0	.	422;422	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	Y	422	ENSP00000329140:S422Y;ENSP00000403550:S422Y	ENSP00000329140:S422Y	S	-	2	0	CREB3L2	137220286	1.000000	0.71417	0.926000	0.36857	0.881000	0.50899	6.877000	0.75562	2.708000	0.92522	0.650000	0.86243	TCC		0.532	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		55	57	1	0	8.72158e-25	1	1.15801e-24	55	57				
ITPRIP	85450	broad.mit.edu	37	10	106074250	106074250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074250G>T	ENST00000337478.1	-	2	1731	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.F520L|ITPRIP_ENST00000278071.2_Missense_Mutation_p.F520L	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	520						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCATCTCATAGAAGGAGTCCA	0.562																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(1558-1560)ttC>ttA		inositol 1,4,5-trisphosphate receptor interacting protein							92.0	86.0	88.0					10																	106074250		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106074250G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1560C>A	10.37:g.106074250G>T	ENSP00000337178:p.Phe520Leu					ITPRIP_ENST00000358187.2_Missense_Mutation_p.F520L|ITPRIP_ENST00000337478.1_Missense_Mutation_p.F520L	p.F520L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	2012	-			520					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.1560C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123450	0.56613	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.27256	1.68;1.68;1.68	5.12	5.12	0.69794	.	0.049166	0.85682	D	0.000000	T	0.23492	0.0568	L	0.57536	1.79	0.40275	D	0.978333	P	0.42409	0.779	B	0.34489	0.184	T	0.06338	-1.0832	10	0.46703	T	0.11	-32.7148	12.3011	0.54874	0.0782:0.0:0.9218:0.0	.	520	Q8IWB1	IPRI_HUMAN	L	520	ENSP00000337178:F520L;ENSP00000278071:F520L;ENSP00000350915:F520L	ENSP00000278071:F520L	F	-	3	2	ITPRIP	106064240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.229000	0.42990	2.543000	0.85770	0.561000	0.74099	TTC		0.562	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		8	96	1	0	5.18039e-06	1	5.91835e-06	8	96				
DCAF8	50717	broad.mit.edu	37	1	160188212	160188212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160188212G>A	ENST00000368073.3	-	13	2013	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	DCAF8_ENST00000326837.2_Missense_Mutation_p.R527W|DCAF8_ENST00000368074.1_Missense_Mutation_p.R527W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R681W|DCAF8_ENST00000608310.1_Missense_Mutation_p.R681W			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	527					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCCGCTCCCGCTTGTTCTTC	0.517																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1579-1581)Cgg>Tgg		DDB1 and CUL4 associated factor 8							170.0	166.0	167.0					1																	160188212		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160188212G>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1579C>T	1.37:g.160188212G>A	ENSP00000357052:p.Arg527Trp					DCAF8_ENST00000368074.1_Missense_Mutation_p.R527W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R681W|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.R527W	p.R527W			Q5TAQ9	DCAF8_HUMAN			13	2013	-			527					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.1579C>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301546	0.60195	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.34;-0.34	5.2	5.2	0.72013	.	0.000000	0.64402	U	0.000010	T	0.71542	0.3352	L	0.45137	1.4	0.80722	D	1	D;B	0.89917	1.0;0.039	D;B	0.83275	0.996;0.004	T	0.69213	-0.5204	10	0.33940	T	0.23	-7.5517	12.7039	0.57049	0.0:0.0:0.8351:0.1649	.	681;527	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	W	527;527;527;681;508;681	ENSP00000357052:R527W;ENSP00000318227:R527W;ENSP00000357053:R527W;ENSP00000451989:R681W;ENSP00000451235:R681W	ENSP00000318227:R527W	R	-	1	2	RP11-574F21.3;DCAF8	158454836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.488000	0.60300	2.700000	0.92200	0.563000	0.77884	CGG		0.517	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		5	124	0	0	0	1	0	5	124				
STK33	65975	broad.mit.edu	37	11	8457657	8457657	+	Missense_Mutation	SNP	C	C	A	rs201583070		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8457657C>A	ENST00000447869.1	-	9	1895	c.977G>T	c.(976-978)aGc>aTc	p.S326I	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.S285I|STK33_ENST00000396673.1_Missense_Mutation_p.S326I|STK33_ENST00000358872.3_Missense_Mutation_p.S139I|STK33_ENST00000396672.1_Missense_Mutation_p.S326I|STK33_ENST00000315204.1_Missense_Mutation_p.S326I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCTTCTGAGCTTGCCAAAAA	0.323																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(976-978)aGc>aTc		serine/threonine kinase 33							47.0	44.0	45.0					11																	8457657		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8457657C>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.977G>T	11.37:g.8457657C>A	ENSP00000416750:p.Ser326Ile					STK33_ENST00000534493.1_Missense_Mutation_p.S285I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.S139I|STK33_ENST00000396673.1_Missense_Mutation_p.S326I|STK33_ENST00000315204.1_Missense_Mutation_p.S326I|STK33_ENST00000396672.1_Missense_Mutation_p.S326I	p.S326I			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	9	1895	-			326			Protein kinase.		Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.977G>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741431	0.69304	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.86	-5.83	0.02325	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.904732	0.09817	N	0.751997	T	0.53658	0.1810	L	0.43701	1.375	0.30017	N	0.814686	P;P	0.38195	0.622;0.473	B;P	0.44597	0.242;0.454	T	0.60347	-0.7281	10	0.87932	D	0	.	7.8153	0.29256	0.0:0.2939:0.1917:0.5144	.	285;326	B4DDH2;Q9BYT3	.;STK33_HUMAN	I	326;326;326;139;326;81;285	ENSP00000416750:S326I;ENSP00000320754:S326I;ENSP00000379905:S326I;ENSP00000351743:S139I;ENSP00000379906:S326I;ENSP00000415688:S81I;ENSP00000436418:S285I	ENSP00000320754:S326I	S	-	2	0	STK33	8414233	0.511000	0.26179	0.906000	0.35671	0.995000	0.86356	-0.432000	0.06956	-0.811000	0.04369	-0.157000	0.13467	AGC		0.323	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		10	31	1	0	3.86212e-05	1	4.30401e-05	10	31				
SLC35G5	83650	broad.mit.edu	37	8	11188669	11188669	+	Silent	SNP	G	G	A	rs369468696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11188669G>A	ENST00000382435.4	+	1	273	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	18						integral component of membrane (GO:0016021)											ACCCATCGCCGCCCTCCGCTC	0.677																																						ENST00000382435.4																			0											c.(52-54)ccG>ccA		solute carrier family 35, member G5		G		0,4406		0,0,2203	53.0	56.0	55.0		54	-0.7	0.2	8		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35G5	NM_054028.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		18/339	11188669	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11188669G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.54G>A	8.37:g.11188669G>A							p.P18P	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	273	+			18					A2RRL6	Silent	SNP	ENST00000382435.4	37	c.54G>A	CCDS5980.1																																																																																				0.677	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		22	29	0	0	0	1	0	22	29				
UTRN	7402	broad.mit.edu	37	6	144747452	144747452	+	Silent	SNP	G	G	A	rs377032020		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144747452G>A	ENST00000367545.3	+	6	435	c.435G>A	c.(433-435)tcG>tcA	p.S145S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	145	Actin-binding.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGTCATGTCGGACCTGCAGC	0.473																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(433-435)tcG>tcA		utrophin							159.0	136.0	144.0					6																	144747452		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144747452G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.435G>A	6.37:g.144747452G>A							p.S145S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	6	435	+		Ovarian(120;0.218)	145			Actin-binding.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.435G>A	CCDS34547.1																																																																																				0.473	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			24	26	0	0	0	1	0	24	26				
MMP25	64386	broad.mit.edu	37	16	3097548	3097548	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3097548G>A	ENST00000336577.4	+	2	469	c.232G>A	c.(232-234)Gac>Aac	p.D78N	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	79					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CGGCCGCATGGGTAGGTGGCC	0.667																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.e2+1		matrix metallopeptidase 25							36.0	43.0	41.0					16																	3097548		2197	4298	6495	SO:0001630	splice_region_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3097548G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.232+1G>A	16.37:g.3097548G>A						MMP25_ENST00000570755.1_3'UTR	p.D78_splice	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			2	469	+			78					Q96F04|Q96TE2	Splice_Site	SNP	ENST00000336577.4	37	c.232_splice	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061917	0.76187	.	.	ENSG00000008516	ENST00000336577	T	0.56103	0.48	4.99	4.99	0.66335	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.46758	D	0.000272	T	0.72961	0.3526	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	T	0.76310	-0.3006	10	0.59425	D	0.04	.	15.7772	0.78232	0.0:0.0:1.0:0.0	.	2;78	O43923;Q9NPA2	.;MMP25_HUMAN	N	78	ENSP00000337816:D78N	ENSP00000337816:D78N	D	+	1	0	MMP25	3037549	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	8.780000	0.91799	2.319000	0.78375	0.563000	0.77884	GAC		0.667	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468	Missense_Mutation	17	27	0	0	0	1	0	17	27				
SLC38A3	10991	broad.mit.edu	37	3	50253068	50253068	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50253068G>T	ENST00000420502.1	+	0	619									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GAACATCGGAGGTAAGAGCAG	0.657																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						32.0	34.0	33.0					3																	50253068		2070	4206	6276			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50253068G>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50253068G>T										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	619	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.657	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		10	24	1	0	1.58986e-06	1	1.84011e-06	10	24				
PRADC1	84279	broad.mit.edu	37	2	73455931	73455931	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73455931G>A	ENST00000258083.2	-	4	505	c.438C>T	c.(436-438)ggC>ggT	p.G146G	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	146	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						ACCCGTCTCGGCCGAGCAGGA	0.587																																						ENST00000258083.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(436-438)ggC>ggT		protease-associated domain containing 1							35.0	32.0	33.0					2																	73455931		2203	4300	6503	SO:0001819	synonymous_variant	84279					extracellular region		g.chr2:73455931G>A	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.438C>T	2.37:g.73455931G>A						PRADC1_ENST00000480093.1_Intron	p.G146G	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN			4	505	-			146			PA.		Q2Z1P2	Silent	SNP	ENST00000258083.2	37	c.438C>T	CCDS1924.1																																																																																				0.587	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		12	20	0	0	0	1	0	12	20				
CSRNP3	80034	broad.mit.edu	37	2	166514426	166514426	+	Missense_Mutation	SNP	C	C	T	rs563868095	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166514426C>T	ENST00000342316.4	+	3	576	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R102C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R134C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	102					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAACAGCGTGCGCCAGTACAC	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		17456	0.0		0.0	False		,,,				2504	0.002					ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(304-306)Cgc>Tgc		cysteine-serine-rich nuclear protein 3							60.0	52.0	55.0					2																	166514426		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514426C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.304C>T	2.37:g.166514426C>T	ENSP00000344042:p.Arg102Cys					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R102C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R134C	p.R102C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			5	680	+			102					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.304C>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368556	0.82463	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.49021	-0.8982	10	0.62326	D	0.03	-19.1257	19.2061	0.93730	0.0:1.0:0.0:0.0	.	102	Q8WYN3	CSRN3_HUMAN	C	102;109;102;102;102;134	ENSP00000412081:R102C;ENSP00000318258:R102C;ENSP00000386278:R102C;ENSP00000344042:R102C;ENSP00000387195:R134C	ENSP00000318258:R102C	R	+	1	0	CSRNP3	166222672	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.978000	0.56881	2.604000	0.88044	0.563000	0.77884	CGC		0.552	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		12	26	0	0	0	1	0	12	26				
CAPN10	11132	broad.mit.edu	37	2	241533978	241533978	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241533978G>T	ENST00000391984.2	+	6	1045	c.849G>T	c.(847-849)caG>caT	p.Q283H	CAPN10_ENST00000354082.4_Missense_Mutation_p.Q283H|CAPN10_ENST00000404753.3_Missense_Mutation_p.Q283H|CAPN10_ENST00000391982.2_Missense_Mutation_p.Q283H|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	283	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGTGGAGCCAGGTAGATGCAG	0.607																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(847-849)caG>caT		calpain 10							139.0	146.0	144.0					2																	241533978		2203	4300	6503	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241533978G>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.849G>T	2.37:g.241533978G>T	ENSP00000375844:p.Gln283His					CAPN10_ENST00000354082.4_Missense_Mutation_p.Q283H|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.Q283H|CAPN10_ENST00000391982.2_Missense_Mutation_p.Q283H	p.Q283H	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	6	1045	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	283			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.849G>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	G	7.899	0.734047	0.15574	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	4.93	4.93	0.64822	Peptidase C2, calpain, catalytic domain (3);	0.635116	0.16686	N	0.203741	T	0.27629	0.0679	L	0.59436	1.845	0.09310	N	1	P;P;P;P	0.52316	0.952;0.915;0.896;0.774	P;P;P;P	0.54270	0.747;0.667;0.652;0.726	T	0.08764	-1.0706	10	0.23302	T	0.38	.	10.8345	0.46679	0.0:0.0:0.8111:0.1889	.	283;283;283;283	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	H	283	ENSP00000375844:Q283H;ENSP00000375842:Q283H;ENSP00000384422:Q283H;ENSP00000270362:Q283H	ENSP00000270362:Q283H	Q	+	3	2	CAPN10	241182651	0.226000	0.23696	0.160000	0.22671	0.125000	0.20455	0.705000	0.25675	2.270000	0.75569	0.655000	0.94253	CAG		0.607	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		65	142	1	0	5.00936e-31	1	6.71602e-31	65	142				
NOTCH3	4854	broad.mit.edu	37	19	15303018	15303018	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15303018G>A	ENST00000263388.2	-	4	507	c.432C>T	c.(430-432)tgC>tgT	p.C144C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	144	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> F (in CADASIL). {ECO:0000269|PubMed:11058919}.|C -> S (in CADASIL). {ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764}.|C -> Y (in CADASIL). {ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGGCAGGAGCAGAGGAAGC	0.692																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(430-432)tgC>tgT		notch 3							19.0	22.0	21.0					19																	15303018		2201	4296	6497	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15303018G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.432C>T	19.37:g.15303018G>A							p.C144C	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		4	507	-			144		C -> F (in CADASIL).|C -> S (in CADASIL).|C -> Y (in CADASIL).	EGF-like 3.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.432C>T	CCDS12326.1																																																																																				0.692	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		5	9	0	0	0	1	0	5	9				
RP1L1	94137	broad.mit.edu	37	8	10466941	10466941	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466941A>G	ENST00000382483.3	-	4	4890	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1636					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCGGCCGCCATCTGGTCCAG	0.657																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(4666-4668)aTg>aCg		retinitis pigmentosa 1-like 1							16.0	19.0	18.0					8																	10466941		2102	4230	6332	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466941A>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4667T>C	8.37:g.10466941A>G	ENSP00000371923:p.Met1556Thr						p.M1556T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4890	-			1556					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4667T>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683822	0.29872	.	.	ENSG00000183638	ENST00000382483	T	0.10477	2.87	5.32	5.32	0.75619	.	0.000000	0.40469	U	0.001082	T	0.23532	0.0569	L	0.36672	1.1	0.28065	N	0.932811	D	0.89917	1.0	D	0.76071	0.987	T	0.02417	-1.1162	10	0.62326	D	0.03	-22.1694	14.1084	0.65107	1.0:0.0:0.0:0.0	.	1556	A6NKC6	.	T	1556	ENSP00000371923:M1556T	ENSP00000371923:M1556T	M	-	2	0	RP1L1	10504351	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	8.574000	0.90763	2.018000	0.59344	0.402000	0.26972	ATG		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	21	0	0	0	1	0	4	21				
ATP6AP1	537	broad.mit.edu	37	X	153663813	153663813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153663813C>T	ENST00000369762.2	+	9	1226	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	389					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGCACGCAGCCCTCTCC	0.607																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1165-1167)Cag>Tag		ATPase, H+ transporting, lysosomal accessory protein 1							46.0	42.0	43.0					X																	153663813		2203	4300	6503	SO:0001587	stop_gained	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663813C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1165C>T	X.37:g.153663813C>T	ENSP00000358777:p.Gln389*						p.Q389*	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			9	1226	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		389					A6ZKI4|Q8NBT4|Q9H0C7	Nonsense_Mutation	SNP	ENST00000369762.2	37	c.1165C>T	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938248	0.92526	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.09	3.2	0.36748	.	1.256880	0.04920	N	0.454847	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	0.0148	9.2132	0.37331	0.0:0.7413:0.1608:0.0979	.	.	.	.	X	389;213	.	ENSP00000358777:Q389X	Q	+	1	0	ATP6AP1	153317007	0.000000	0.05858	0.785000	0.31869	0.238000	0.25445	0.220000	0.17660	0.957000	0.37930	0.596000	0.82720	CAG		0.607	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		5	37	0	0	0	1	0	5	37				
SLC35D1	23169	broad.mit.edu	37	1	67519552	67519552	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67519552A>G	ENST00000235345.5	-	1	230	c.145T>C	c.(145-147)Tac>Cac	p.Y49H	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	49					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CTCACGCCGTAAAAGCCGGCG	0.647																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(145-147)Tac>Cac		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						45.0	47.0	46.0					1																	67519552		2203	4300	6503	SO:0001583	missense	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67519552A>G	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.145T>C	1.37:g.67519552A>G	ENSP00000235345:p.Tyr49His						p.Y49H	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			1	230	-			49					A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	c.145T>C	CCDS636.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607263	0.87157	.	.	ENSG00000116704	ENST00000235345	T	0.81163	-1.46	3.41	3.41	0.39046	.	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89370	0.3674	10	0.59425	D	0.04	-18.0502	10.1317	0.42682	1.0:0.0:0.0:0.0	.	49	Q9NTN3	S35D1_HUMAN	H	49	ENSP00000235345:Y49H	ENSP00000235345:Y49H	Y	-	1	0	SLC35D1	67292140	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.316000	0.79007	1.549000	0.49425	0.379000	0.24179	TAC		0.647	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		4	17	0	0	0	1	0	4	17				
NFXL1	152518	broad.mit.edu	37	4	47857181	47857181	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47857181C>T	ENST00000507489.1	-	20	2493		c.e20-1		NFXL1_ENST00000381538.3_Splice_Site	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CACAAGGAAGCTAAAATAAAA	0.358																																						ENST00000507489.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.e20-1		nuclear transcription factor, X-box binding-like 1							86.0	82.0	83.0					4																	47857181		2203	4297	6500	SO:0001630	splice_region_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47857181C>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2317-1G>A	4.37:g.47857181C>T						NFXL1_ENST00000381538.3_Splice_Site		NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			20	2493	-								B1Q2K1|Q86VG1|Q8WVH1	Splice_Site	SNP	ENST00000507489.1	37		CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397633	0.83120	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9279	0.97110	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFXL1	47551938	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.824000	0.69279	2.817000	0.96982	0.479000	0.44913	.		0.358	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	Intron	26	47	0	0	0	1	0	26	47				
SHMT1	6470	broad.mit.edu	37	17	18233940	18233940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18233940C>T	ENST00000316694.3	-	10	1234	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	SHMT1_ENST00000354098.3_Missense_Mutation_p.G328D|SHMT1_ENST00000539052.1_Missense_Mutation_p.G229D|SHMT1_ENST00000352886.6_Missense_Mutation_p.G287D	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	367					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	ACCATCTGTGCCTTTGGAACG	0.483																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1099-1101)gGc>gAc		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						119.0	102.0	108.0					17																	18233940		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18233940C>T		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1100G>A	17.37:g.18233940C>T	ENSP00000318868:p.Gly367Asp					SHMT1_ENST00000539052.1_Missense_Mutation_p.G229D|SHMT1_ENST00000354098.3_Missense_Mutation_p.G328D|SHMT1_ENST00000352886.6_Missense_Mutation_p.G287D	p.G367D	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			10	1234	-			367					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.1100G>A	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808241	0.90707	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.092522	0.85682	D	0.000000	T	0.58119	0.2100	M	0.76328	2.33	0.80722	D	1	D;P;D	0.58620	0.983;0.682;0.979	D;B;P	0.68039	0.955;0.278;0.859	T	0.59979	-0.7352	10	0.66056	D	0.02	-27.3016	13.0665	0.59036	0.0:0.9261:0.0:0.0739	.	367;328;367	A8MYA6;P34896-2;P34896	.;.;GLYC_HUMAN	D	367;142;287;229;328;367	ENSP00000318868:G367D;ENSP00000345881:G287D;ENSP00000440089:G229D;ENSP00000318805:G328D	ENSP00000318868:G367D	G	-	2	0	SHMT1	18174665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.921000	0.63397	2.761000	0.94854	0.655000	0.94253	GGC		0.483	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		17	29	0	0	0	1	0	17	29				
RASGRF2	5924	broad.mit.edu	37	5	80382721	80382721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80382721G>A	ENST00000265080.4	+	9	1406	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	447					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGAATGATCGTGGAGGGCTG	0.507																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1339-1341)Gtg>Atg		Ras protein-specific guanine nucleotide-releasing factor 2							152.0	133.0	140.0					5																	80382721		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80382721G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1339G>A	5.37:g.80382721G>A	ENSP00000265080:p.Val447Met					RASGRF2_ENST00000502677.1_3'UTR	p.V447M	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	9	1406	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	447					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1339G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094119	0.94149	.	.	ENSG00000113319	ENST00000265080	T	0.69435	-0.4	5.72	5.72	0.89469	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.66847	0.908;0.947	T	0.81609	-0.0855	10	0.66056	D	0.02	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	447;447	D6RAS9;O14827	.;RGRF2_HUMAN	M	447	ENSP00000265080:V447M	ENSP00000265080:V447M	V	+	1	0	RASGRF2	80418477	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.734000	0.74801	2.695000	0.91970	0.650000	0.86243	GTG		0.507	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		5	43	0	0	0	1	0	5	43				
NUDT16L1	84309	broad.mit.edu	37	16	4745007	4745007	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4745007G>A	ENST00000304301.6	+	3	496	c.463G>A	c.(463-465)Gga>Aga	p.G155R	NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.R178Q	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	155	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GGACCGAGTCGGAGGCTTCCC	0.632																																						ENST00000586536.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(532-534)cGg>cAg		nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1							62.0	50.0	54.0					16																	4745007		2197	4300	6497	SO:0001583	missense	84309					cytoplasm	hydrolase activity	g.chr16:4745007G>A	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.463G>A	16.37:g.4745007G>A	ENSP00000306670:p.Gly155Arg					NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.G155R|NUDT16L1_ENST00000586252.1_Intron	p.R178Q	NM_001193452.1	NP_001180381.1	Q9BRJ7	SDOS_HUMAN			3	553	+			0			Interaction with PXN (By similarity).		Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	c.533G>A	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488395	0.64074	.	.	ENSG00000168101	ENST00000304301	T	0.52295	0.67	4.52	4.52	0.55395	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57734	-0.7760	10	0.35671	T	0.21	.	15.8464	0.78895	0.0:0.0:1.0:0.0	.	155	Q9BRJ7	SDOS_HUMAN	R	155	ENSP00000306670:G155R	ENSP00000306670:G155R	G	+	1	0	NUDT16L1	4685008	1.000000	0.71417	0.302000	0.25058	0.847000	0.48162	7.018000	0.76406	2.060000	0.61445	0.655000	0.94253	GGA		0.632	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		14	28	0	0	0	1	0	14	28				
UGCG	7357	broad.mit.edu	37	9	114695147	114695147	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114695147C>T	ENST00000374279.3	+	9	1505	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	352					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TATGCAGTCGCCTGGTTCATC	0.393																																						ENST00000374279.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(1054-1056)gCc>gTc		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)						134.0	130.0	131.0					9																	114695147		2203	4300	6503	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114695147C>T	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.1055C>T	9.37:g.114695147C>T	ENSP00000363397:p.Ala352Val						p.A352V	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	9	1505	+			352					Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.1055C>T	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259975	0.23051	.	.	ENSG00000148154	ENST00000374279	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	L	0.49126	1.545	0.80722	D	1	P	0.37663	0.604	B	0.37198	0.243	T	0.53422	-0.8441	9	0.33940	T	0.23	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	352	Q16739	CEGT_HUMAN	V	352	.	ENSP00000363397:A352V	A	+	2	0	UGCG	113734968	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	7.487000	0.81328	2.706000	0.92434	0.563000	0.77884	GCC		0.393	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		37	91	0	0	0	1	0	37	91				
NDUFA13	51079	broad.mit.edu	37	19	19625988	19625988	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19625988G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.N83N|TSSK6_ENST00000585580.3_Silent_p.N83N|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						ACAGTTTCCCGTTGCACACCT	0.637																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(247-249)aaC>aaT		testis-specific serine kinase 6							56.0	52.0	53.0					19																	19625988		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625988G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625988G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.N83N	p.N83N			Q9BXA6	TSSK6_HUMAN			1	850	-			83			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.249C>T	CCDS12404.2																																																																																				0.637	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		23	22	0	0	0	1	0	23	22				
COL18A1	80781	broad.mit.edu	37	21	46932214	46932214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46932214C>T	ENST00000359759.4	+	41	5188	c.5167C>T	c.(5167-5169)Ctg>Ttg	p.L1723L	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1308L|COL18A1_ENST00000355480.5_Silent_p.L1488L|SLC19A1_ENST00000468508.1_5'Flank			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1723	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCTCCTCGCTGCTGGGGGG	0.672																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(5167-5169)Ctg>Ttg		collagen, type XVIII, alpha 1							18.0	23.0	21.0					21																	46932214		2089	4200	6289	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46932214C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.5167C>T	21.37:g.46932214C>T						COL18A1_ENST00000355480.5_Silent_p.L1488L|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1308L	p.L1723L			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	41	5188	+			1723			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.5167C>T																																																																																					0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			4	13	0	0	0	1	0	4	13				
PTPN9	5780	broad.mit.edu	37	15	75798101	75798101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75798101C>T	ENST00000306726.2	-	7	1395	c.883G>A	c.(883-885)Gtt>Att	p.V295I	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	295					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGCATTAACATAGTCCACC	0.468																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(883-885)Gtt>Att		protein tyrosine phosphatase, non-receptor type 9							172.0	149.0	157.0					15																	75798101		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798101C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.883G>A	15.37:g.75798101C>T	ENSP00000303554:p.Val295Ile					PTPN9_ENST00000564970.1_5'UTR	p.V295I	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			7	1395	-			295					Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.883G>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607695	0.46527	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.13538	2.58	5.65	3.62	0.41486	.	0.359640	0.29321	N	0.012483	T	0.13114	0.0318	L	0.55213	1.73	0.46113	D	0.998872	B	0.13594	0.008	B	0.19148	0.024	T	0.04347	-1.0958	10	0.22109	T	0.4	.	10.4606	0.44577	0.1453:0.7777:0.0:0.077	.	295	P43378	PTN9_HUMAN	I	295;285	ENSP00000303554:V295I	ENSP00000303554:V295I	V	-	1	0	PTPN9	73585156	1.000000	0.71417	0.966000	0.40874	0.888000	0.51559	2.840000	0.48215	2.676000	0.91093	0.655000	0.94253	GTT		0.468	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			22	52	0	0	0	1	0	22	52				
SCN4A	6329	broad.mit.edu	37	17	62036796	62036796	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62036796G>T	ENST00000435607.1	-	12	1924	c.1848C>A	c.(1846-1848)gtC>gtA	p.V616V	SCN4A_ENST00000578147.1_Silent_p.V616V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	616					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)	TGCCTGTGAAGACCTAGGGGG	0.597																																						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.(1846-1848)gtC>gtA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						57.0	57.0	57.0					17																	62036796		1980	4173	6153	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036796G>T	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.1848C>A	17.37:g.62036796G>T						SCN4A_ENST00000578147.1_Silent_p.V616V	p.V616V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			12	1924	-			616					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.1848C>A	CCDS45761.1																																																																																				0.597	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		8	10	1	0	0.0477658	1	0.0488009	8	10				
MUC17	140453	broad.mit.edu	37	7	100683263	100683263	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683263G>T	ENST00000306151.4	+	3	8630	c.8566G>T	c.(8566-8568)Ggt>Tgt	p.G2856C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2856	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGAAGGTATCGTCGT	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8566-8568)Ggt>Tgt		mucin 17, cell surface associated							256.0	263.0	261.0					7																	100683263		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683263G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8566G>T	7.37:g.100683263G>T	ENSP00000302716:p.Gly2856Cys						p.G2856C	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8630	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2856			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8566G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	6.339	0.430711	0.12045	.	.	ENSG00000169876	ENST00000306151	T	0.03689	3.84	0.913	0.913	0.19354	.	.	.	.	.	T	0.08179	0.0204	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.35025	-0.9805	9	0.54805	T	0.06	.	7.8206	0.29286	0.0:0.0:1.0:0.0	.	2856	Q685J3	MUC17_HUMAN	C	2856	ENSP00000302716:G2856C	ENSP00000302716:G2856C	G	+	1	0	MUC17	100469983	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.260000	0.18424	0.810000	0.34279	0.134000	0.15878	GGT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		217	152	1	0	6.72445e-110	1	9.10946e-110	217	152				
KIAA1551	55196	broad.mit.edu	37	12	32135951	32135951	+	Missense_Mutation	SNP	G	G	A	rs545635934		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32135951G>A	ENST00000312561.4	+	4	2476	c.2062G>A	c.(2062-2064)Gca>Aca	p.A688T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	688																	TTCAGATACTGCAAAAGAAAA	0.428																																						ENST00000312561.4																			0											c.(2062-2064)Gca>Aca		KIAA1551							61.0	56.0	58.0					12																	32135951		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135951G>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2062G>A	12.37:g.32135951G>A	ENSP00000310338:p.Ala688Thr					KIAA1551_ENST00000535596.1_Intron	p.A688T	NM_018169.3	NP_060639.3					4	2476	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.2062G>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	3.145	-0.175384	0.06421	.	.	ENSG00000174718	ENST00000312561	T	0.10288	2.89	5.68	-6.3	0.02007	.	0.995104	0.08152	N	0.989824	T	0.01976	0.0062	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51756	-0.8665	9	.	.	.	.	13.7924	0.63150	0.2395:0.1096:0.6509:0.0	.	688	Q9HCM1	CL035_HUMAN	T	688	ENSP00000310338:A688T	.	A	+	1	0	C12orf35	32027218	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.031000	0.12287	-0.901000	0.03891	-0.350000	0.07774	GCA		0.428	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	41	0	0	0	1	0	5	41				
C5orf22	55322	broad.mit.edu	37	5	31552974	31552974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31552974C>A	ENST00000325366.9	+	9	1421	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	C5orf22_ENST00000355907.3_Missense_Mutation_p.L153I|C5orf22_ENST00000504866.1_3'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	432										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAATCTAGACCTCCAAGTGTA	0.403																																						ENST00000355907.3																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						c.(457-459)Ctc>Atc		chromosome 5 open reading frame 22							115.0	103.0	107.0					5																	31552974		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31552974C>A	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1294C>A	5.37:g.31552974C>A	ENSP00000326879:p.Leu432Ile					C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000325366.9_Missense_Mutation_p.L432I	p.L153I			Q49AR2	CE022_HUMAN			10	1619	+			432					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.457C>A	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653204	0.14580	.	.	ENSG00000082213	ENST00000325366;ENST00000355907;ENST00000543911	T;T	0.42131	1.78;0.98	5.59	-2.93	0.05598	.	0.715723	0.13757	N	0.364857	T	0.10594	0.0259	N	0.00583	-1.355	0.19575	N	0.999963	B;B	0.24963	0.115;0.0	B;B	0.22386	0.039;0.0	T	0.31280	-0.9949	10	0.31617	T	0.26	-1.5337	6.6683	0.23054	0.2226:0.4277:0.3497:0.0	.	153;432	Q49AR2-3;Q49AR2	.;CE022_HUMAN	I	432;153;167	ENSP00000326879:L432I;ENSP00000348171:L153I	ENSP00000326879:L432I	L	+	1	0	C5orf22	31588731	0.040000	0.19996	0.877000	0.34402	0.321000	0.28281	-0.829000	0.04415	-0.476000	0.06842	-0.266000	0.10368	CTC		0.403	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		23	74	1	0	2.41591e-17	1	3.13163e-17	23	74				
RAB9A	9367	broad.mit.edu	37	X	13727016	13727016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13727016G>A	ENST00000464506.1	+	3	430	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	51					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGATTTGGAAGTGGATGGACA	0.418																																						ENST00000464506.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(151-153)Gtg>Atg		RAB9A, member RAS oncogene family							129.0	130.0	130.0					X																	13727016		2203	4300	6503	SO:0001583	missense	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727016G>A	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.151G>A	X.37:g.13727016G>A	ENSP00000420127:p.Val51Met					RAB9A_ENST00000243325.5_3'UTR	p.V51M	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN			3	430	+			51					A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	37	c.151G>A	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297174	0.81025	.	.	ENSG00000123595	ENST00000464506	T	0.79141	-1.24	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88058	0.6335	M	0.78049	2.395	0.80722	D	1	D	0.63880	0.993	D	0.68483	0.958	D	0.88191	0.2877	9	.	.	.	-8.8623	18.4388	0.90656	0.0:0.0:1.0:0.0	.	51	P51151	RAB9A_HUMAN	M	51	ENSP00000420127:V51M	.	V	+	1	0	RAB9A	13636937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.654000	0.74387	2.296000	0.77279	0.594000	0.82650	GTG		0.418	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		83	143	0	0	0	1	0	83	143				
ABCC3	8714	broad.mit.edu	37	17	48753805	48753805	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48753805C>T	ENST00000285238.8	+	23	3314	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1078	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ACATCTATGTCGTTGATGAGG	0.537																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3232-3234)gtC>gtT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						358.0	264.0	296.0					17																	48753805		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753805C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3234C>T	17.37:g.48753805C>T							p.V1078V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		23	3314	+			1078			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.3234C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	0.287	-0.982584	0.02180	.	.	ENSG00000108846	ENST00000513745	.	.	.	5.24	2.88	0.33553	.	.	.	.	.	T	0.57154	0.2034	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53229	-0.8468	4	.	.	.	-28.7843	8.696	0.34296	0.0:0.598:0.2356:0.1665	.	.	.	.	C	227	.	.	R	+	1	0	ABCC3	46108804	1.000000	0.71417	0.995000	0.50966	0.018000	0.09664	0.624000	0.24462	1.199000	0.43173	0.609000	0.83330	CGT		0.537	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		68	123	0	0	0	1	0	68	123				
MAGEB3	4114	broad.mit.edu	37	X	30254597	30254597	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30254597C>T	ENST00000361644.2	+	5	1293	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	186	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAAAATGGATCTCCCCAACAA	0.468																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(556-558)Ctc>Ttc		melanoma antigen family B, 3							69.0	60.0	63.0					X																	30254597		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254597C>T	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.556C>T	X.37:g.30254597C>T	ENSP00000355198:p.Leu186Phe					MAGEB3_ENST00000378986.1_Missense_Mutation_p.L186F	p.L186F	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN			5	1293	+			186			MAGE.		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.556C>T	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048289	0.55110	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05513	3.43;3.43	4.3	1.49	0.22878	.	0.256103	0.30820	U	0.008806	T	0.18923	0.0454	M	0.83118	2.625	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.08249	-1.0731	10	0.38643	T	0.18	.	3.0727	0.06236	0.2126:0.5525:0.0:0.2349	.	186	O15480	MAGB3_HUMAN	F	186	ENSP00000368271:L186F;ENSP00000355198:L186F	ENSP00000355198:L186F	L	+	1	0	MAGEB3	30164518	0.059000	0.20769	0.000000	0.03702	0.400000	0.30750	1.736000	0.38187	0.163000	0.19507	0.600000	0.82982	CTC		0.468	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		28	41	0	0	0	1	0	28	41				
KALRN	8997	broad.mit.edu	37	3	124181472	124181472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124181472C>A	ENST00000240874.3	+	25	4174	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	KALRN_ENST00000360013.3_Missense_Mutation_p.F1339L|KALRN_ENST00000460856.1_Missense_Mutation_p.F1330L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1339	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTACGATTTCCATAACAAGT	0.483																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4015-4017)ttC>ttA		kalirin, RhoGEF kinase							74.0	66.0	69.0					3																	124181472		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124181472C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4017C>A	3.37:g.124181472C>A	ENSP00000240874:p.Phe1339Leu					KALRN_ENST00000460856.1_Missense_Mutation_p.F1330L|KALRN_ENST00000240874.3_Missense_Mutation_p.F1339L	p.F1339L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			25	4144	+			1339			DH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4017C>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.216268|4.216268	0.79352|0.79352	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.62232|.	0.04;0.04;0.04|.	5.41|5.41	0.63|0.63	0.17693|0.17693	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68540|0.68540	0.3012|0.3012	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	1.0;1.0;0.951;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.958;0.998|.	T|T	0.64964|0.64964	-0.6283|-0.6283	10|5	0.87932|.	D|.	0|.	.|.	9.8506|9.8506	0.41055|0.41055	0.0:0.4667:0.0:0.5333|0.0:0.4667:0.0:0.5333	.|.	1330;685;1339;1339|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	L|Y	1330;1339;1339|1308	ENSP00000418611:F1330L;ENSP00000240874:F1339L;ENSP00000353109:F1339L|.	ENSP00000240874:F1339L|.	F|S	+|+	3|2	2|0	KALRN|KALRN	125664162|125664162	0.975000|0.975000	0.34042|0.34042	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	0.134000|0.134000	0.15932|0.15932	-0.027000|-0.027000	0.13873|0.13873	0.655000|0.655000	0.94253|0.94253	TTC|TCC		0.483	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		10	16	1	0	1.76689e-08	1	2.11513e-08	10	16				
FAT1	2195	broad.mit.edu	37	4	187541117	187541117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187541117C>T	ENST00000441802.2	-	10	6832	c.6623G>A	c.(6622-6624)aGc>aAc	p.S2208N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2208	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTTCCGGGCTGTTAGCCTG	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6622-6624)aGc>aAc		FAT atypical cadherin 1							144.0	144.0	144.0					4																	187541117		2011	4177	6188	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541117C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6623G>A	4.37:g.187541117C>T	ENSP00000406229:p.Ser2208Asn	HNSCC(5;0.00058)					p.S2208N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	6832	-			2208			Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6623G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216410	0.39201	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.60797	0.16	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	0.089365	0.85682	D	0.000000	T	0.60958	0.2309	M	0.76574	2.34	0.48040	D	0.999574	B	0.16802	0.019	B	0.18561	0.022	T	0.59101	-0.7517	10	0.38643	T	0.18	.	18.5902	0.91208	0.0:1.0:0.0:0.0	.	2208	Q14517	FAT1_HUMAN	N	2208;2210	ENSP00000406229:S2208N	ENSP00000260147:S2210N	S	-	2	0	FAT1	187778111	1.000000	0.71417	0.981000	0.43875	0.325000	0.28411	5.798000	0.69095	2.619000	0.88677	0.655000	0.94253	AGC		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		47	91	0	0	0	1	0	47	91				
CTAG2	30848	broad.mit.edu	37	X	153881751	153881751	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153881751G>A	ENST00000247306.4	-	1	102	c.39C>T	c.(37-39)ggC>ggT	p.G13G	CTAG2_ENST00000369585.3_Silent_p.G13G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	13	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGCATCGCCCGTCGAAC	0.716																																						ENST00000247306.4																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(37-39)ggC>ggT		cancer/testis antigen 2							4.0	9.0	8.0					X																	153881751		1107	3613	4720	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153881751G>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.39C>T	X.37:g.153881751G>A						CTAG2_ENST00000369585.3_Silent_p.G13G	p.G13G	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			1	102	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		13			Gly-rich.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.39C>T	CCDS14759.1																																																																																				0.716	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		7	8	0	0	0	1	0	7	8				
CER1	9350	broad.mit.edu	37	9	14722362	14722362	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14722362C>T	ENST00000380911.3	-	1	353	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	103					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GTGGGAAGGGCTCACTATCTG	0.522																																						ENST00000380911.3																			0				endometrium(2)|large_intestine(3)|lung(6)	11						c.(307-309)gaG>gaA		cerberus 1, DAN family BMP antagonist							75.0	78.0	77.0					9																	14722362		2203	4300	6503	SO:0001819	synonymous_variant	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14722362C>T	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.309G>A	9.37:g.14722362C>T							p.E103E	NM_005454.2	NP_005445.1	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	1	353	-			103					Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	c.309G>A	CCDS6476.1																																																																																				0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		14	32	0	0	0	1	0	14	32				
MARCH7	64844	broad.mit.edu	37	2	160605353	160605353	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160605353A>T	ENST00000259050.4	+	5	1674	c.1552A>T	c.(1552-1554)Agt>Tgt	p.S518C	MARCH7_ENST00000409175.1_Missense_Mutation_p.S518C|MARCH7_ENST00000409591.1_Missense_Mutation_p.S480C|MARCH7_ENST00000539065.1_Missense_Mutation_p.S462C	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	518					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGATGGTAAAAGTGATAAAAC	0.383																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1552-1554)Agt>Tgt		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							82.0	92.0	88.0					2																	160605353		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160605353A>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1552A>T	2.37:g.160605353A>T	ENSP00000259050:p.Ser518Cys					MARCH7_ENST00000409591.1_Missense_Mutation_p.S480C|MARCH7_ENST00000409175.1_Missense_Mutation_p.S518C|MARCH7_ENST00000539065.1_Missense_Mutation_p.S462C	p.S518C	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1674	+			518					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1552A>T	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382148	0.61845	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.13538	2.58;2.59;2.58;2.58	5.88	4.74	0.60224	.	0.547496	0.23157	N	0.051282	T	0.20210	0.0486	L	0.40543	1.245	0.27302	N	0.95755	D;D;P	0.57257	0.969;0.979;0.948	P;P;P	0.52758	0.708;0.635;0.514	T	0.03166	-1.1065	10	0.72032	D	0.01	-35.8523	11.7615	0.51905	0.9316:0.0:0.0684:0.0	.	462;480;518	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	C	518;462;518;480	ENSP00000386830:S518C;ENSP00000442992:S462C;ENSP00000259050:S518C;ENSP00000387238:S480C	ENSP00000259050:S518C	S	+	1	0	MARCH7	160313599	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.436000	0.66538	1.050000	0.40346	0.533000	0.62120	AGT		0.383	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		60	98	0	0	0	1	0	60	98				
COL16A1	1307	broad.mit.edu	37	1	32127979	32127979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32127979C>T	ENST00000373672.3	-	58	4153	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.G1213S|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1213	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCATCCAGACCGGCGGGGCCC	0.622																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3637-3639)Ggt>Agt		collagen, type XVI, alpha 1							34.0	37.0	36.0					1																	32127979		1919	4122	6041	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32127979C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3637G>A	1.37:g.32127979C>T	ENSP00000362776:p.Gly1213Ser					COL16A1_ENST00000271069.6_Missense_Mutation_p.G1213S	p.G1213S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	58	4153	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1213			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3637G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062795	0.55432	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.99483	-5.99;-5.99;-5.75	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.97682	4.055	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97130	0.9817	10	0.72032	D	0.01	.	17.0431	0.86495	0.0:1.0:0.0:0.0	.	1213;1211	Q07092;Q07092-2	COGA1_HUMAN;.	S	1213;1213;70	ENSP00000362776:G1213S;ENSP00000271069:G1213S;ENSP00000390281:G70S	ENSP00000271069:G1213S	G	-	1	0	COL16A1	31900566	1.000000	0.71417	0.259000	0.24435	0.214000	0.24535	6.128000	0.71650	2.378000	0.81104	0.462000	0.41574	GGT		0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		3	10	0	0	0	1	0	3	10				
TCF20	6942	broad.mit.edu	37	22	42610433	42610433	+	Silent	SNP	C	C	T	rs535811120	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610433C>T	ENST00000359486.3	-	1	1015	c.879G>A	c.(877-879)caG>caA	p.Q293Q	TCF20_ENST00000335626.4_Silent_p.Q293Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAGATTGAGGCTGATAGCTGT	0.463													C|||	3	0.000599042	0.0	0.0	5008	,	,		22809	0.0		0.0	False		,,,				2504	0.0031					ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(877-879)caG>caA		transcription factor 20 (AR1)							169.0	152.0	158.0					22																	42610433		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610433C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.879G>A	22.37:g.42610433C>T						TCF20_ENST00000335626.4_Silent_p.Q293Q	p.Q293Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1015	-			293					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.879G>A	CCDS14033.1																																																																																				0.463	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		39	82	0	0	0	1	0	39	82				
PNMA5	114824	broad.mit.edu	37	X	152159087	152159087	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159087G>A	ENST00000439251.1	-	2	1494	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PNMA5_ENST00000452693.1_Silent_p.S352S|PNMA5_ENST00000361887.5_Silent_p.S352S|PNMA5_ENST00000535214.1_Silent_p.S352S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	352					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTACCGGAGGCCCCCC	0.562																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1054-1056)tcC>tcT		paraneoplastic Ma antigen family member 5							60.0	53.0	56.0					X																	152159087		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159087G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1056C>T	X.37:g.152159087G>A						PNMA5_ENST00000452693.1_Silent_p.S352S|PNMA5_ENST00000361887.5_Silent_p.S352S|PNMA5_ENST00000535214.1_Silent_p.S352S	p.S352S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1494	-	Acute lymphoblastic leukemia(192;6.56e-05)		352					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.1056C>T	CCDS14718.1																																																																																				0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		33	43	0	0	0	1	0	33	43				
CDC37L1	55664	broad.mit.edu	37	9	4701964	4701964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4701964C>T	ENST00000381854.3	+	6	1050	c.848C>T	c.(847-849)aCa>aTa	p.T283I	CDC37L1_ENST00000381858.1_Missense_Mutation_p.T283I	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	283	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAACCTATGACAGTTCAGAAT	0.338																																						ENST00000381854.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(847-849)aCa>aTa		cell division cycle 37-like 1							96.0	88.0	91.0					9																	4701964		2203	4298	6501	SO:0001583	missense	55664					cytoplasm		g.chr9:4701964C>T	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.848C>T	9.37:g.4701964C>T	ENSP00000371278:p.Thr283Ile					CDC37L1_ENST00000381858.1_Missense_Mutation_p.T283I	p.T283I	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	6	1050	+	all_hematologic(13;0.137)	Breast(48;0.238)	283			Interaction with Hsp70.|Required for interaction with STIP1.		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	37	c.848C>T	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002895	0.19121	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.44881	0.91;0.91	5.82	3.99	0.46301	.	0.698156	0.14455	N	0.318535	T	0.18800	0.0451	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.19666	0.026	T	0.18398	-1.0338	10	0.44086	T	0.13	-24.3257	8.3889	0.32516	0.0:0.6883:0.0:0.3117	.	283	Q7L3B6	CD37L_HUMAN	I	283	ENSP00000371282:T283I;ENSP00000371278:T283I	ENSP00000371278:T283I	T	+	2	0	CDC37L1	4691964	0.053000	0.20554	0.995000	0.50966	0.950000	0.60333	0.791000	0.26915	0.802000	0.34089	0.655000	0.94253	ACA		0.338	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		15	40	0	0	0	1	0	15	40				
COL12A1	1303	broad.mit.edu	37	6	75797421	75797421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75797421C>T	ENST00000322507.8	-	65	9362	c.9053G>A	c.(9052-9054)gGt>gAt	p.G3018D	COL12A1_ENST00000345356.6_Missense_Mutation_p.G1854D|COL12A1_ENST00000483888.2_Missense_Mutation_p.G3014D|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2942D|COL12A1_ENST00000511023.1_5'Flank	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3018	Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCTCTTGAACCTGTGGACCC	0.532																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(9052-9054)gGt>gAt		collagen, type XII, alpha 1							75.0	83.0	80.0					6																	75797421		1885	4096	5981	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75797421C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.9053G>A	6.37:g.75797421C>T	ENSP00000325146:p.Gly3018Asp					COL12A1_ENST00000416123.2_Missense_Mutation_p.G2942D|COL12A1_ENST00000483888.2_Missense_Mutation_p.G3014D|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1854D	p.G3018D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			65	9362	-			3018			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.9053G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187839	0.94923	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.99353	-3.87;-5.77;-3.91;-3.95;-4.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	H	0.96301	3.8	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97697	1.0182	10	0.87932	D	0	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	1854;3018	Q99715-2;Q99715	.;COCA1_HUMAN	D	3018;656;2942;1854;2942;3014	ENSP00000325146:G3018D;ENSP00000399812:G656D;ENSP00000305147:G1854D;ENSP00000412864:G2942D;ENSP00000421216:G3014D	ENSP00000325146:G3018D	G	-	2	0	COL12A1	75854141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.719000	0.93026	0.655000	0.94253	GGT		0.532	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		23	49	0	0	0	1	0	23	49				
LTN1	26046	broad.mit.edu	37	21	30330708	30330708	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30330708C>A	ENST00000361371.5	-	14	2826	c.2747G>T	c.(2746-2748)aGt>aTt	p.S916I	LTN1_ENST00000389194.2_Splice_Site_p.S962I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	916					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAAAGGTTACCTGTTGATATC	0.378																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.e14+1		listerin E3 ubiquitin protein ligase 1							121.0	121.0	121.0					21																	30330708		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30330708C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2747+1G>T	21.37:g.30330708C>A						LTN1_ENST00000389194.2_Splice_Site_p.S962_splice	p.S916_splice	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			14	2897	-			916					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.2747_splice		.	.	.	.	.	.	.	.	.	.	C	20.9	4.070017	0.76301	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.20738	2.05;2.06	5.16	5.16	0.70880	.	0.157931	0.64402	D	0.000012	T	0.26085	0.0636	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.18618	-1.0331	9	.	.	.	.	19.1868	0.93647	0.0:1.0:0.0:0.0	.	916	O94822	LTN1_HUMAN	I	962;916	ENSP00000373846:S962I;ENSP00000354977:S916I	.	S	-	2	0	LTN1	29252579	1.000000	0.71417	0.996000	0.52242	0.621000	0.37620	5.859000	0.69539	2.838000	0.97847	0.591000	0.81541	AGT		0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Missense_Mutation	57	88	1	0	1.88225e-35	1	2.53285e-35	57	88				
ASAP2	8853	broad.mit.edu	37	2	9496443	9496443	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9496443C>T	ENST00000281419.3	+	14	1636	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	ASAP2_ENST00000315273.4_Silent_p.G432G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	432	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGATGACGGGCAATGACGTCT	0.502																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1294-1296)ggC>ggT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							64.0	61.0	62.0					2																	9496443		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9496443C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1296C>T	2.37:g.9496443C>T						ASAP2_ENST00000315273.4_Silent_p.G432G	p.G432G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			14	1636	+			432			Arf-GAP.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.1296C>T	CCDS1661.1																																																																																				0.502	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		11	38	0	0	0	1	0	11	38				
DDX27	55661	broad.mit.edu	37	20	47858647	47858647	+	Missense_Mutation	SNP	C	C	A	rs181310817		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858647C>A	ENST00000371764.4	+	18	2122	c.2113C>A	c.(2113-2115)Ctc>Atc	p.L705I	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	705						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTTGAAATCCTCAAGGCGCA	0.602																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2113-2115)Ctc>Atc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							80.0	79.0	79.0					20																	47858647		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858647C>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2113C>A	20.37:g.47858647C>A	ENSP00000360828:p.Leu705Ile					ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	p.L705I	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		18	2122	+			705					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.2113C>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444201	0.63067	.	.	ENSG00000124228	ENST00000371764	T	0.01455	4.87	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.03390	0.0098	L	0.60455	1.87	0.80722	D	1	P	0.46142	0.873	B	0.39904	0.313	T	0.56444	-0.7978	10	0.38643	T	0.18	-16.1936	17.5937	0.88005	0.0:1.0:0.0:0.0	.	705	Q96GQ7	DDX27_HUMAN	I	705	ENSP00000360828:L705I	ENSP00000360828:L705I	L	+	1	0	DDX27	47292054	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.511000	0.45476	2.756000	0.94617	0.555000	0.69702	CTC		0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			5	92	1	0	1.23904e-05	1	1.39987e-05	5	92				
TRIB1	10221	broad.mit.edu	37	8	126445615	126445615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126445615G>A	ENST00000311922.3	+	2	999	c.417G>A	c.(415-417)tcG>tcA	p.S139S	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000519576.1_5'Flank	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1			tribbles pseudokinase 1									p.S139S(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGCTGCCATCGCACAGCAACA	0.493																																						ENST00000311922.3																			2	Substitution - coding silent(2)	p.S139S(2)	large_intestine(1)|lung(1)	NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(415-417)tcG>tcA		tribbles pseudokinase 1							193.0	194.0	194.0					8																	126445615		2203	4300	6503	SO:0001819	synonymous_variant	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126445615G>A	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000311922.3:c.417G>A	8.37:g.126445615G>A						TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_5'UTR	p.S139S	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		2	999	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		139			Protein kinase.			Silent	SNP	ENST00000311922.3	37	c.417G>A	CCDS6357.1																																																																																				0.493	TRIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381430.1	NM_025195		11	234	0	0	0	1	0	11	234				
TPR	7175	broad.mit.edu	37	1	186286670	186286670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186286670G>A	ENST00000367478.4	-	49	7180	c.6884C>T	c.(6883-6885)tCt>tTt	p.S2295F		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2295					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGACTCATCAGATGCTTGAAC	0.438			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6883-6885)tCt>tTt		translocated promoter region, nuclear basket protein							92.0	92.0	92.0					1																	186286670		1893	4121	6014	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186286670G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6884C>T	1.37:g.186286670G>A	ENSP00000356448:p.Ser2295Phe						p.S2295F	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	49	7180	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2295					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6884C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881052	0.91740	.	.	ENSG00000047410	ENST00000367478	T	0.47869	0.83	5.75	4.83	0.62350	.	0.182670	0.49305	D	0.000142	T	0.46112	0.1376	M	0.62723	1.935	0.53005	D	0.999965	P	0.40476	0.718	B	0.36808	0.233	T	0.54642	-0.8263	10	0.66056	D	0.02	.	15.1843	0.72986	0.0685:0.0:0.9315:0.0	.	2295	P12270	TPR_HUMAN	F	2295	ENSP00000356448:S2295F	ENSP00000356448:S2295F	S	-	2	0	TPR	184553293	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.642000	0.83385	2.716000	0.92895	0.655000	0.94253	TCT		0.438	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		19	36	0	0	0	1	0	19	36				
ATN1	1822	broad.mit.edu	37	12	7045646	7045646	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7045646C>T	ENST00000356654.4	+	5	1453	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	ATN1_ENST00000396684.2_Missense_Mutation_p.P406S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	406					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCAGGCATTGCCCAGCTACCC	0.567																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1216-1218)Ccc>Tcc		atrophin 1							73.0	61.0	65.0					12																	7045646		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045646C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1216C>T	12.37:g.7045646C>T	ENSP00000349076:p.Pro406Ser					ATN1_ENST00000396684.2_Missense_Mutation_p.P406S	p.P406S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1453	+			406					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1216C>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	10.39	1.337125	0.24253	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.53423	0.62;0.62;0.62	3.73	3.73	0.42828	.	0.000000	0.33732	U	0.004607	T	0.37892	0.1020	N	0.22421	0.69	0.43099	D	0.994783	B;B	0.29909	0.261;0.261	B;B	0.37346	0.247;0.179	T	0.39187	-0.9626	10	0.49607	T	0.09	.	11.9073	0.52719	0.0:0.8237:0.1763:0.0	.	406;406	Q86V38;P54259	.;ATN1_HUMAN	S	406	ENSP00000349076:P406S;ENSP00000379915:P406S;ENSP00000441744:P406S	ENSP00000349076:P406S	P	+	1	0	ATN1	6915907	0.023000	0.18921	1.000000	0.80357	0.081000	0.17604	2.104000	0.41815	1.799000	0.52666	0.586000	0.80456	CCC		0.567	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		12	11	0	0	0	1	0	12	11				
SAMD9	54809	broad.mit.edu	37	7	92731698	92731698	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92731698A>C	ENST00000379958.2	-	3	3982	c.3713T>G	c.(3712-3714)aTt>aGt	p.I1238S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1238						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCCCCTGGAATATCACTACT	0.274																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3712-3714)aTt>aGt		sterile alpha motif domain containing 9							62.0	72.0	69.0					7																	92731698		2201	4296	6497	SO:0001583	missense	54809					cytoplasm		g.chr7:92731698A>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3713T>G	7.37:g.92731698A>C	ENSP00000369292:p.Ile1238Ser						p.I1238S	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3982	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1238					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3713T>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	8.679	0.904732	0.17760	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25250	1.81;2.66	4.43	4.43	0.53597	.	0.292311	0.25807	N	0.028162	T	0.33118	0.0852	L	0.52573	1.65	0.25388	N	0.988554	D	0.54964	0.969	P	0.50231	0.635	T	0.16217	-1.0410	10	0.87932	D	0	.	12.6217	0.56607	1.0:0.0:0.0:0.0	.	1238	Q5K651	SAMD9_HUMAN	S	1238	ENSP00000369292:I1238S;ENSP00000414529:I1238S	ENSP00000369292:I1238S	I	-	2	0	SAMD9	92569634	0.000000	0.05858	0.993000	0.49108	0.145000	0.21501	0.930000	0.28858	1.855000	0.53841	0.443000	0.29094	ATT		0.274	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		20	100	0	0	0	1	0	20	100				
DHX35	60625	broad.mit.edu	37	20	37634834	37634834	+	Missense_Mutation	SNP	G	G	A	rs147968535		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37634834G>A	ENST00000252011.3	+	12	1090	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	DHX35_ENST00000373323.4_Missense_Mutation_p.G322S|DHX35_ENST00000373325.2_Missense_Mutation_p.G353S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	353	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACAATCAGCGGCATTGTGTA	0.458																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1057-1059)Ggc>Agc		DEAH (Asp-Glu-Ala-His) box polypeptide 35		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	334.0	323.0	326.0		964,1057	6.0	0.9	20	dbSNP_134	326	0,8600		0,0,4300	no	missense,missense	DHX35	NM_001190809.1,NM_021931.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	322/673,353/704	37634834	1,13005	2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634834G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1057G>A	20.37:g.37634834G>A	ENSP00000252011:p.Gly353Ser					DHX35_ENST00000373323.4_Missense_Mutation_p.G322S|DHX35_ENST00000373325.2_Missense_Mutation_p.G353S	p.G353S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			12	1090	+		Myeloproliferative disorder(115;0.00878)	353			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1057G>A	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055046	0.93793	2.27E-4	0.0	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	T;T;T	0.03212	4.01;4.01;4.01	5.97	5.97	0.96955	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.01084	-1.1457	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	322;353	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	S	353;353;322	ENSP00000362422:G353S;ENSP00000252011:G353S;ENSP00000362420:G322S	ENSP00000252011:G353S	G	+	1	0	DHX35	37068248	1.000000	0.71417	0.907000	0.35723	0.521000	0.34408	9.837000	0.99465	2.837000	0.97791	0.655000	0.94253	GGC		0.458	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		133	272	0	0	0	1	0	133	272				
CCNL2	81669	broad.mit.edu	37	1	1328833	1328833	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1328833A>T	ENST00000400809.3	-	5	607	c.602T>A	c.(601-603)gTt>gAt	p.V201D	CCNL2_ENST00000505849.1_5'Flank|CCNL2_ENST00000408918.4_Missense_Mutation_p.V201D|CCNL2_ENST00000408952.5_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	201	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AAGGTACATAACGATTATCTG	0.473																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(601-603)gTt>gAt		cyclin L2							177.0	151.0	160.0					1																	1328833		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1328833A>T	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.602T>A	1.37:g.1328833A>T	ENSP00000383611:p.Val201Asp					CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Missense_Mutation_p.V201D	p.V201D	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	5	607	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	201			Cyclin-like 2.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.602T>A	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257544	0.80246	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.49139	1.14;0.79	5.34	5.34	0.76211	Cyclin-like (3);	0.085679	0.48767	D	0.000169	T	0.74756	0.3758	M	0.91090	3.175	0.80722	D	1	P;D;D	0.89917	0.935;1.0;0.997	P;D;D	0.91635	0.753;0.999;0.968	T	0.81217	-0.1033	10	0.87932	D	0	.	14.6621	0.68879	1.0:0.0:0.0:0.0	.	201;201;201	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	D	201	ENSP00000383611:V201D;ENSP00000386158:V201D	ENSP00000383611:V201D	V	-	2	0	CCNL2	1318696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.656000	0.91102	2.253000	0.74438	0.533000	0.62120	GTT		0.473	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		27	54	0	0	0	1	0	27	54				
BTN3A1	11119	broad.mit.edu	37	6	26408056	26408056	+	Silent	SNP	C	C	T	rs200236658		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26408056C>T	ENST00000289361.6	+	4	959	c.591C>T	c.(589-591)gaC>gaT	p.D197D	BTN3A1_ENST00000425234.2_Silent_p.D197D|BTN3A1_ENST00000476549.2_Silent_p.D197D|BTN3A1_ENST00000414912.2_Splice_Site_p.D145D	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	197	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGGTTGCAGACGGAGTGGGCC	0.562																																						ENST00000414912.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.e4-1		butyrophilin, subfamily 3, member A1							193.0	172.0	179.0					6																	26408056		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid metabolic process	integral to membrane		g.chr6:26408056C>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.591C>T	6.37:g.26408056C>T						BTN3A1_ENST00000476549.2_Silent_p.D197D|BTN3A1_ENST00000425234.2_Silent_p.D197D|BTN3A1_ENST00000289361.6_Silent_p.D197D	p.D145_splice			O00481	BT3A1_HUMAN			4	745	+			197			Ig-like V-type 2.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Splice_Site	SNP	ENST00000289361.6	37	c.433_splice	CCDS4608.1																																																																																				0.562	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			5	94	0	0	0	1	0	5	94				
CHTF18	63922	broad.mit.edu	37	16	846797	846797	+	Missense_Mutation	SNP	G	G	A	rs202175778		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846797G>A	ENST00000262315.9	+	19	2600	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	CHTF18_ENST00000455171.2_Missense_Mutation_p.R874H|CHTF18_ENST00000317063.6_Missense_Mutation_p.R1055H	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	846					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTCATCGCCCGCGAGATCGAG	0.657																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(3163-3165)cGc>cAc		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)		G	HIS/ARG	0,4078		0,0,2039	37.0	46.0	43.0		2537	-0.0	0.0	16		43	2,8302		0,2,4150	yes	missense	CHTF18	NM_022092.2	29	0,2,6189	AA,AG,GG		0.0241,0.0,0.0162	benign	846/976	846797	2,12380	2039	4152	6191	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:846797G>A	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2537G>A	16.37:g.846797G>A	ENSP00000262315:p.Arg846His					CHTF18_ENST00000262315.9_Missense_Mutation_p.R846H|CHTF18_ENST00000455171.2_Missense_Mutation_p.R874H	p.R1055H			Q8WVB6	CTF18_HUMAN			21	3164	+		Hepatocellular(780;0.00335)	846					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.3164G>A	CCDS45371.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.379	1.072565	0.20147	0.0	2.41E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.11169	2.8;2.84;2.83	4.57	-0.0188	0.13962	.	0.174410	0.47852	N	0.000210	T	0.05640	0.0148	L	0.31526	0.94	0.40192	D	0.97741	P;B	0.37083	0.581;0.269	B;B	0.28139	0.086;0.028	T	0.48055	-0.9068	10	0.25751	T	0.34	-14.7971	8.4383	0.32799	0.264:0.0:0.736:0.0	.	874;846	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	H	1055;874;846	ENSP00000313029:R1055H;ENSP00000406252:R874H;ENSP00000262315:R846H	ENSP00000262315:R846H	R	+	2	0	CHTF18	786798	0.404000	0.25328	0.017000	0.16124	0.027000	0.11550	2.090000	0.41682	-0.244000	0.09639	0.313000	0.20887	CGC		0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		4	34	0	0	0	1	0	4	34				
CAMK1G	57172	broad.mit.edu	37	1	209779784	209779784	+	Silent	SNP	C	C	T	rs148684307	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209779784C>T	ENST00000009105.1	+	6	800	c.555C>T	c.(553-555)taC>taT	p.Y185Y	CAMK1G_ENST00000361322.2_Silent_p.Y185Y			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCCAGGCTACGTGGGTAAGT	0.488																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(553-555)taC>taT		calcium/calmodulin-dependent protein kinase IG		C		0,4406		0,0,2203	107.0	91.0	96.0		555	-11.3	0.2	1	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CAMK1G	NM_020439.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		185/477	209779784	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209779784C>T		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.555C>T	1.37:g.209779784C>T						CAMK1G_ENST00000361322.2_Silent_p.Y185Y	p.Y185Y			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	6	800	+			185			Protein kinase.		Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.555C>T	CCDS1486.1																																																																																				0.488	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		37	58	0	0	0	1	0	37	58				
SGPP2	130367	broad.mit.edu	37	2	223423168	223423168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223423168G>A	ENST00000321276.7	+	5	837	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	251					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.V251M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCTCTTCCCCGTGTGTGTCAT	0.587																																						ENST00000321276.7																			1	Substitution - Missense(1)	p.V251M(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18						c.(751-753)Gtg>Atg		sphingosine-1-phosphate phosphatase 2							149.0	135.0	140.0					2																	223423168		2203	4300	6503	SO:0001583	missense	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223423168G>A	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.751G>A	2.37:g.223423168G>A	ENSP00000315137:p.Val251Met						p.V251M	NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	5	837	+		Renal(207;0.0376)	251					A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	c.751G>A	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660522	0.47572	.	.	ENSG00000163082	ENST00000321276	.	.	.	5.19	4.19	0.49359	.	0.656485	0.15135	N	0.278600	T	0.21881	0.0527	L	0.40543	1.245	0.09310	N	0.999995	D	0.56035	0.974	B	0.42692	0.395	T	0.27773	-1.0064	9	0.48119	T	0.1	-21.62	2.3113	0.04187	0.167:0.1709:0.488:0.1741	.	251	Q8IWX5	SGPP2_HUMAN	M	251	.	ENSP00000315137:V251M	V	+	1	0	SGPP2	223131412	0.218000	0.23608	0.966000	0.40874	0.889000	0.51656	0.679000	0.25291	2.402000	0.81655	0.655000	0.94253	GTG		0.587	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2			24	56	0	0	0	1	0	24	56				
FOXH1	8928	broad.mit.edu	37	8	145699694	145699694	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145699694T>C	ENST00000377317.4	-	3	1603	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G	FOXH1_ENST00000525197.1_5'Flank	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	342	SMAD-interaction domain (SID).				aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GACCCAAACGTCGTAGATGCT	0.667																																						ENST00000377317.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(1024-1026)gAc>gGc		forkhead box H1							32.0	36.0	34.0					8																	145699694		2199	4289	6488	SO:0001583	missense	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr8:145699694T>C	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.1025A>G	8.37:g.145699694T>C	ENSP00000366534:p.Asp342Gly						p.D342G	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	1603	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		342			SMAD-interaction domain (SID).		D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	c.1025A>G	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657222	0.47467	.	.	ENSG00000160973	ENST00000377317	D	0.98937	-5.25	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.68952	2.095	0.47065	D	0.999308	D	0.57899	0.981	P	0.49451	0.611	D	0.97270	0.9910	10	0.87932	D	0	-26.1601	7.7207	0.28731	0.0:0.0911:0.0:0.9089	.	342	O75593	FOXH1_HUMAN	G	342	ENSP00000366534:D342G	ENSP00000366534:D342G	D	-	2	0	FOXH1	145670502	.	.	0.605000	0.28930	0.071000	0.16799	.	.	2.216000	0.71823	0.482000	0.46254	GAC		0.667	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			3	41	0	0	0	1	0	3	41				
RABL2A	11159	broad.mit.edu	37	2	114399652	114399652	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114399652A>G	ENST00000393167.3	+	9	858	c.633A>G	c.(631-633)gaA>gaG	p.E211E	RABL2A_ENST00000393166.3_Silent_p.E211E|RABL2A_ENST00000376439.3_Silent_p.E148E|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409842.1_Silent_p.E148E|RABL2A_ENST00000393165.3_Silent_p.E212E|RABL2A_ENST00000409875.1_Silent_p.E221E	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	211					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAGACCAGGAACAGAGCAGCA	0.602																																						ENST00000409875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						c.(661-663)gaA>gaG		RAB, member of RAS oncogene family-like 2A							52.0	47.0	49.0					2																	114399652		2200	4299	6499	SO:0001819	synonymous_variant	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114399652A>G		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.633A>G	2.37:g.114399652A>G						RABL2A_ENST00000393165.3_Silent_p.E212E|RABL2A_ENST00000393166.3_Silent_p.E211E|RABL2A_ENST00000376439.3_Silent_p.E148E|RABL2A_ENST00000409842.1_Silent_p.E148E|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393167.3_Silent_p.E211E	p.E221E			Q9UBK7	RBL2A_HUMAN			10	965	+			211					B7ZBD6|Q9NU37	Silent	SNP	ENST00000393167.3	37	c.663A>G	CCDS2118.1																																																																																				0.602	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2			15	21	0	0	0	1	0	15	21				
TRIM38	10475	broad.mit.edu	37	6	25983700	25983700	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25983700G>T	ENST00000357085.3	+	8	1659	c.1183G>T	c.(1183-1185)Gca>Tca	p.A395S	U91328.21_ENST00000608931.1_RNA|TRIM38_ENST00000349458.3_Missense_Mutation_p.A395S	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGGCTATGTAGCACTTACTTC	0.493																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(1183-1185)Gca>Tca		tripartite motif containing 38							124.0	122.0	123.0					6																	25983700		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983700G>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1183G>T	6.37:g.25983700G>T	ENSP00000349596:p.Ala395Ser					TRIM38_ENST00000349458.3_Missense_Mutation_p.A395S	p.A395S	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			8	1659	+			395			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1183G>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	g	15.65	2.896910	0.52121	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.61392	0.11;0.11;0.11	4.25	4.25	0.50352	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.47455	D	0.000221	T	0.71048	0.3294	M	0.76938	2.355	0.40039	D	0.975626	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73972	-0.3814	10	0.62326	D	0.03	.	14.9713	0.71235	0.0:0.0:1.0:0.0	.	395;395	B2R862;O00635	.;TRI38_HUMAN	S	395	ENSP00000443976:A395S;ENSP00000230099:A395S;ENSP00000349596:A395S	ENSP00000230099:A395S	A	+	1	0	TRIM38	26091679	1.000000	0.71417	0.131000	0.22000	0.232000	0.25224	6.610000	0.74178	2.650000	0.89964	0.655000	0.94253	GCA		0.493	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			35	62	1	0	7.93934e-33	1	1.06589e-32	35	62				
B3GNT2	10678	broad.mit.edu	37	2	62450246	62450246	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62450246T>C	ENST00000301998.4	+	2	1143	c.891T>C	c.(889-891)tcT>tcC	p.S297S	B3GNT2_ENST00000405767.1_Silent_p.S297S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	297					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TTGTTTACTCTGGCCTCTACC	0.532																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(889-891)tcT>tcC		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							70.0	72.0	71.0					2																	62450246		2203	4300	6503	SO:0001819	synonymous_variant	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62450246T>C	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.891T>C	2.37:g.62450246T>C						B3GNT2_ENST00000405767.1_Silent_p.S297S	p.S297S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	1143	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		297					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Silent	SNP	ENST00000301998.4	37	c.891T>C	CCDS1870.1																																																																																				0.532	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		10	70	0	0	0	1	0	10	70				
SMAP2	64744	broad.mit.edu	37	1	40874359	40874359	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40874359G>A	ENST00000539317.1	+	3	225	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	91					regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AAGGCAAACCGACTTTATGAA	0.438																																						ENST00000539317.1																			0				central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(31-33)cGa>cAa		small ArfGAP2							195.0	162.0	174.0					1																	40874359		2203	4300	6503	SO:0001583	missense	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40874359G>A	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.32G>A	1.37:g.40874359G>A	ENSP00000442835:p.Arg11Gln						p.R11Q	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		3	225	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	91					B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	c.32G>A	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989429	0.53934	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.42131	0.98;0.98;0.98	5.59	4.66	0.58398	.	0.058710	0.64402	D	0.000003	T	0.33147	0.0853	N	0.11560	0.145	0.52099	D	0.999947	D;B;B	0.61697	0.99;0.077;0.375	P;B;B	0.53809	0.735;0.007;0.051	T	0.06643	-1.0815	10	0.12103	T	0.63	2.4623	13.4767	0.61312	0.0:0.0:0.8421:0.1579	.	11;61;91	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	Q	91;91;61;11	ENSP00000361803:R91Q;ENSP00000361793:R61Q;ENSP00000442835:R11Q	ENSP00000361793:R61Q	R	+	2	0	SMAP2	40646946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.958000	0.56737	1.321000	0.45227	0.655000	0.94253	CGA		0.438	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		42	50	0	0	0	1	0	42	50				
ARID2	196528	broad.mit.edu	37	12	46245184	46245184	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245184C>A	ENST00000334344.6	+	15	3450	c.3278C>A	c.(3277-3279)cCt>cAt	p.P1093H	ARID2_ENST00000422737.1_Missense_Mutation_p.P944H|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.P703H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1093	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAAGAGCTCCTAGCCCTCAG	0.517			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3277-3279)cCt>cAt		AT rich interactive domain 2 (ARID, RFX-like)							80.0	76.0	77.0					12																	46245184		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245184C>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3278C>A	12.37:g.46245184C>A	ENSP00000335044:p.Pro1093His					ARID2_ENST00000444670.1_Missense_Mutation_p.P703H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P944H	p.P1093H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3450	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1093			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3278C>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224556	0.58668	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.39592	1.07	6.04	6.04	0.98038	.	0.153579	0.64402	D	0.000008	T	0.56731	0.2005	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.956	T	0.57201	-0.7852	10	0.87932	D	0	-9.7123	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1093;703;1093	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	H	1093;210;210;944;703	ENSP00000335044:P1093H	ENSP00000335044:P1093H	P	+	2	0	ARID2	44531451	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.263000	0.78421	2.873000	0.98535	0.563000	0.77884	CCT		0.517	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		6	55	1	0	0.27861	1	0.279982	6	55				
STARD8	9754	broad.mit.edu	37	X	67939137	67939137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67939137C>T	ENST00000252336.6	+	6	1918	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	STARD8_ENST00000374597.3_Missense_Mutation_p.R516W|STARD8_ENST00000374599.3_Missense_Mutation_p.R596W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	516					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGAGATCAACCGGCAGTTTGC	0.602																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(1546-1548)Cgg>Tgg		StAR-related lipid transfer (START) domain containing 8							66.0	46.0	53.0					X																	67939137		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67939137C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1546C>T	X.37:g.67939137C>T	ENSP00000252336:p.Arg516Trp					STARD8_ENST00000374599.3_Missense_Mutation_p.R596W|STARD8_ENST00000374597.3_Missense_Mutation_p.R516W	p.R516W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			6	1918	+			516					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1546C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001076	0.35320	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08102	3.13;3.13;3.13	4.3	0.3	0.15776	.	0.069684	0.52532	N	0.000076	T	0.06234	0.0161	L	0.39397	1.21	0.46927	D	0.999257	B;B	0.12013	0.004;0.005	B;B	0.15484	0.013;0.004	T	0.30119	-0.9989	10	0.66056	D	0.02	.	3.9247	0.09259	0.4598:0.3417:0.0:0.1985	.	596;516	Q92502-2;Q92502	.;STAR8_HUMAN	W	516;596;516	ENSP00000252336:R516W;ENSP00000363727:R596W;ENSP00000363725:R516W	ENSP00000252336:R516W	R	+	1	2	STARD8	67855862	0.950000	0.32346	0.933000	0.37362	0.988000	0.76386	0.570000	0.23653	-0.282000	0.09128	0.529000	0.55759	CGG		0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		8	26	0	0	0	1	0	8	26				
DIS3L2	129563	broad.mit.edu	37	2	232894770	232894770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232894770C>A	ENST00000409307.1	+	4	346	c.346C>A	c.(346-348)Ctt>Att	p.L116I	DIS3L2_ENST00000360410.4_Missense_Mutation_p.L116I|DIS3L2_ENST00000325385.7_Missense_Mutation_p.L116I|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L116I|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Missense_Mutation_p.L116I					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGTGAAACTGCTTCCCGAGGA	0.418																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(346-348)Ctt>Att		DIS3 mitotic control homolog (S. cerevisiae)-like 2							154.0	150.0	152.0					2																	232894770		1864	4098	5962	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:232894770C>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.346C>A	2.37:g.232894770C>A	ENSP00000386799:p.Leu116Ile					DIS3L2_ENST00000409307.1_Missense_Mutation_p.L116I|DIS3L2_ENST00000360410.4_Missense_Mutation_p.L116I|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L116I|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Missense_Mutation_p.L116I	p.L116I	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	5	622	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	116						Missense_Mutation	SNP	ENST00000409307.1	37	c.346C>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334828	0.60853	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000441279;ENST00000431466;ENST00000409307	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.53	4.66	0.58398	.	0.084554	0.48767	D	0.000163	T	0.60983	0.2311	M	0.84156	2.68	0.42717	D	0.99366	B;P	0.37083	0.151;0.581	B;B	0.38985	0.097;0.287	T	0.63242	-0.6681	10	0.40728	T	0.16	-7.1223	10.544	0.45050	0.0:0.8535:0.0:0.1465	.	116;116	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	I	116	ENSP00000273009:L116I;ENSP00000315569:L116I;ENSP00000353584:L116I;ENSP00000386594:L116I;ENSP00000390467:L116I;ENSP00000386799:L116I	ENSP00000273009:L116I	L	+	1	0	DIS3L2	232603014	1.000000	0.71417	0.939000	0.37840	0.913000	0.54294	3.088000	0.50175	1.350000	0.45770	0.557000	0.71058	CTT		0.418	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		16	79	1	0	3.52763e-06	1	4.04633e-06	16	79				
PHF14	9678	broad.mit.edu	37	7	11091395	11091395	+	Silent	SNP	G	G	A	rs150763937	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11091395G>A	ENST00000403050.3	+	14	2921	c.2469G>A	c.(2467-2469)ccG>ccA	p.P823P	PHF14_ENST00000445996.2_Silent_p.P538P	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	823					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAGATTCCGATAAGAAACA	0.393																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(2467-2469)ccG>ccA		PHD finger protein 14							62.0	59.0	60.0					7																	11091395		1867	4109	5976	SO:0001819	synonymous_variant	9678						zinc ion binding	g.chr7:11091395G>A	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2469G>A	7.37:g.11091395G>A						PHF14_ENST00000445996.2_Silent_p.P538P	p.P823P	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	14	2921	+			823					A7MCZ3|B4DI82	Silent	SNP	ENST00000403050.3	37	c.2469G>A	CCDS47542.1																																																																																				0.393	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		16	30	0	0	0	1	0	16	30				
LRP12	29967	broad.mit.edu	37	8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105503269G>A	ENST00000276654.5	-	7	2320	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R719C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	738					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2212-2214)Cgc>Tgc		low density lipoprotein receptor-related protein 12							115.0	97.0	103.0					8																	105503269		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503269G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2212C>T	8.37:g.105503269G>A	ENSP00000276654:p.Arg738Cys					LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R719C	p.R738C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2320	-			738					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2212C>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011951	0.75046	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.85629	-2.01;-1.94	5.51	5.51	0.81932	.	0.046823	0.85682	D	0.000000	D	0.86535	0.5956	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59288	0.855;0.818	D	0.88223	0.2898	10	0.87932	D	0	-26.1109	19.7828	0.96424	0.0:0.0:1.0:0.0	.	719;738	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	C	719;738;103	ENSP00000399148:R719C;ENSP00000276654:R738C	ENSP00000276654:R738C	R	-	1	0	LRP12	105572445	1.000000	0.71417	0.417000	0.26559	0.985000	0.73830	8.952000	0.93031	2.747000	0.94245	0.650000	0.86243	CGC		0.478	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		21	46	0	0	0	1	0	21	46				
COL28A1	340267	broad.mit.edu	37	7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T	rs182575990	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7412808C>T	ENST00000399429.3	-	32	2869	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453													C|||	5	0.000998403	0.0	0.0	5008	,	,		21249	0.004		0.001	False		,,,				2504	0.0					ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2728-2730)cGt>cAt		collagen, type XXVIII, alpha 1		C	HIS/ARG	0,3870		0,0,1935	97.0	92.0	93.0		2729	0.4	0.4	7		93	4,8256		0,4,4126	yes	missense	COL28A1	NM_001037763.2	29	0,4,6061	TT,TC,CC		0.0484,0.0,0.033	probably-damaging	910/1126	7412808	4,12126	1935	4130	6065	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412808C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2729G>A	7.37:g.7412808C>T	ENSP00000382356:p.Arg910His						p.R910H	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2869	-		Ovarian(82;0.0789)	910			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2729G>A	CCDS43553.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.58	2.876462	0.51801	0.0	4.84E-4	ENSG00000215018	ENST00000399429	T	0.78246	-1.16	4.09	0.407	0.16371	von Willebrand factor, type A (3);	0.095709	0.40302	U	0.001130	D	0.82701	0.5094	M	0.73217	2.22	0.43355	D	0.99542	D	0.89917	1.0	D	0.91635	0.999	T	0.77910	-0.2411	10	0.16420	T	0.52	-4.4705	9.4765	0.38875	0.0:0.7234:0.0:0.2766	.	910	Q2UY09	COSA1_HUMAN	H	910	ENSP00000382356:R910H	ENSP00000382356:R910H	R	-	2	0	COL28A1	7379333	0.182000	0.23173	0.425000	0.26659	0.524000	0.34500	2.181000	0.42547	0.049000	0.15920	-0.140000	0.14226	CGT		0.453	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		11	42	0	0	0	1	0	11	42				
MS4A4A	51338	broad.mit.edu	37	11	60075626	60075626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60075626C>T	ENST00000337908.4	+	7	785	c.695C>T	c.(694-696)tCt>tTt	p.S232F	MS4A4A_ENST00000395016.3_Missense_Mutation_p.S213F|MS4A4A_ENST00000355131.3_Missense_Mutation_p.S213F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S179F	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	232						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GAAACAGCATCTCCCACACCA	0.448																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(637-639)tCt>tTt		membrane-spanning 4-domains, subfamily A, member 4A							204.0	174.0	184.0					11																	60075626		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60075626C>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.695C>T	11.37:g.60075626C>T	ENSP00000338648:p.Ser232Phe					MS4A4A_ENST00000337908.4_Missense_Mutation_p.S232F|MS4A4A_ENST00000395016.3_Missense_Mutation_p.S213F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S179F	p.S213F	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			8	861	+			232					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.638C>T	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	C	8.503	0.864653	0.17250	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.18174	2.23;3.04;3.06;3.06	3.22	-0.0306	0.13913	.	6.247870	0.00397	U	0.000043	T	0.15739	0.0379	L	0.43152	1.355	0.09310	N	1	B;B	0.28324	0.207;0.132	B;B	0.30646	0.118;0.118	T	0.16897	-1.0387	10	0.27082	T	0.32	0.3877	3.8698	0.09031	0.4386:0.4347:0.0:0.1267	.	179;232	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	F	179;232;213;213	ENSP00000434506:S179F;ENSP00000338648:S232F;ENSP00000347252:S213F;ENSP00000378462:S213F	ENSP00000338648:S232F	S	+	2	0	MS4A4A	59832202	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.560000	0.05964	0.008000	0.14787	0.454000	0.30748	TCT		0.448	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			36	66	0	0	0	1	0	36	66				
ZBTB2	57621	broad.mit.edu	37	6	151694680	151694680	+	Silent	SNP	G	G	A	rs371820152		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151694680G>A	ENST00000325144.4	-	2	233	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	31	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGTATACATCGCCGATTGCAA	0.408																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(91-93)ggC>ggT		zinc finger and BTB domain containing 2		G		2,4404	4.2+/-10.8	0,2,2201	149.0	137.0	141.0		93	4.3	1.0	6		141	0,8600		0,0,4300	no	coding-synonymous	ZBTB2	NM_020861.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		31/515	151694680	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151694680G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.93C>T	6.37:g.151694680G>A							p.G31G	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	2	233	-			31			BTB.		A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.93C>T	CCDS5231.1																																																																																				0.408	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		37	58	0	0	0	1	0	37	58				
CHRM5	1133	broad.mit.edu	37	15	34354990	34354990	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34354990C>T	ENST00000383263.5	+	3	742	c.72C>T	c.(70-72)cgC>cgT	p.R24R	CHRM5_ENST00000557872.1_Silent_p.R24R	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	24					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTTGGAACGCCACAGGTTGT	0.473											OREG0023033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(70-72)cgC>cgT		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						170.0	149.0	156.0					15																	34354990		2201	4298	6499	SO:0001819	synonymous_variant	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34354990C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.72C>T	15.37:g.34354990C>T			OREG0023033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	847	CHRM5_ENST00000557872.1_Silent_p.R24R	p.R24R	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	742	+		all_lung(180;1.76e-08)	24					Q96RG7	Silent	SNP	ENST00000383263.5	37	c.72C>T	CCDS10031.1																																																																																				0.473	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			31	43	0	0	0	1	0	31	43				
WNK3	65267	broad.mit.edu	37	X	54321078	54321078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54321078G>A	ENST00000375159.2	-	7	1600	c.1601C>T	c.(1600-1602)aCt>aTt	p.T534I	WNK3_ENST00000354646.2_Missense_Mutation_p.T534I|WNK3_ENST00000375169.3_Missense_Mutation_p.T534I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	534					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCAGCCCCAGTTTGCTGAGC	0.473																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1600-1602)aCt>aTt		WNK lysine deficient protein kinase 3							75.0	62.0	66.0					X																	54321078		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54321078G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1601C>T	X.37:g.54321078G>A	ENSP00000364301:p.Thr534Ile					WNK3_ENST00000375159.2_Missense_Mutation_p.T534I|WNK3_ENST00000375169.3_Missense_Mutation_p.T534I	p.T534I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			8	2039	-			534					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1601C>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	4.077	0.012269	0.07912	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71222	-0.53;-0.55;-0.55	5.04	3.14	0.36123	.	0.547907	0.16516	N	0.211003	T	0.57080	0.2029	L	0.29908	0.895	0.09310	N	1	B;B	0.20988	0.05;0.013	B;B	0.21917	0.037;0.017	T	0.51076	-0.8751	10	0.49607	T	0.09	-4.3055	8.8741	0.35334	0.0:0.2927:0.555:0.1522	.	534;534	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	534	ENSP00000364312:T534I;ENSP00000346667:T534I;ENSP00000364301:T534I	ENSP00000346667:T534I	T	-	2	0	WNK3	54337803	0.000000	0.05858	0.001000	0.08648	0.159000	0.22180	0.076000	0.14712	0.900000	0.36469	0.594000	0.82650	ACT		0.473	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		12	19	0	0	0	1	0	12	19				
MRPL14	64928	broad.mit.edu	37	6	44081608	44081608	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081608A>G	ENST00000372014.3	-	3	541	c.410T>C	c.(409-411)gTg>gCg	p.V137A		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	137					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			AATGGCCAGCACCTTGGAATA	0.557																																						ENST00000372014.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(409-411)gTg>gCg		mitochondrial ribosomal protein L14							57.0	51.0	53.0					6																	44081608		2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44081608A>G	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.410T>C	6.37:g.44081608A>G	ENSP00000361084:p.Val137Ala						p.V137A	NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		3	541	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		137					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.410T>C	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826823	0.90955	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.69	5.69	0.88448	Ribosomal protein L14 domain (2);	0.065368	0.64402	D	0.000010	T	0.61211	0.2329	M	0.80982	2.52	0.80722	D	1	P	0.47484	0.896	P	0.45138	0.471	T	0.70963	-0.4729	9	0.87932	D	0	-4.4216	15.1289	0.72503	1.0:0.0:0.0:0.0	.	137	Q6P1L8	RM14_HUMAN	A	137	.	ENSP00000361084:V137A	V	-	2	0	MRPL14	44189586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.329000	0.96413	2.165000	0.68154	0.459000	0.35465	GTG		0.557	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		17	19	0	0	0	1	0	17	19				
DNAJC2	27000	broad.mit.edu	37	7	102956235	102956235	+	Missense_Mutation	SNP	C	C	T	rs369245611		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102956235C>T	ENST00000379263.3	-	15	1862	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A485T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	538					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GAAGGCGTTGCGTTGTCTGCT	0.373																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1612-1614)Gca>Aca		DnaJ (Hsp40) homolog, subfamily C, member 2		C	THR/ALA,THR/ALA	0,3794		0,0,1897	198.0	177.0	183.0		1453,1612	5.8	0.7	7		183	1,8217		0,1,4108	no	missense,missense	DNAJC2	NM_001129887.1,NM_014377.1	58,58	0,1,6005	TT,TC,CC		0.0122,0.0,0.0083	benign,benign	485/569,538/622	102956235	1,12011	1897	4109	6006	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102956235C>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1612G>A	7.37:g.102956235C>T	ENSP00000368565:p.Ala538Thr					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A485T	p.A538T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			15	1862	-			538					A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.1612G>A	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281429	0.80692	0.0	1.22E-4	ENSG00000105821	ENST00000249270;ENST00000379263	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.959	T	0.70432	-0.4873	9	0.21014	T	0.42	-23.9029	20.0106	0.97448	0.0:1.0:0.0:0.0	.	485;538	Q99543-2;Q99543	.;DNJC2_HUMAN	T	485;538	.	ENSP00000249270:A485T	A	-	1	0	DNAJC2	102743471	1.000000	0.71417	0.726000	0.30738	0.435000	0.31806	7.452000	0.80683	2.722000	0.93159	0.655000	0.94253	GCA		0.373	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			47	50	0	0	0	1	0	47	50				
TBC1D15	64786	broad.mit.edu	37	12	72314627	72314627	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72314627G>T	ENST00000550746.1	+	16	1831	c.1767G>T	c.(1765-1767)aaG>aaT	p.K589N	TBC1D15_ENST00000393309.3_Splice_Site_p.K343N|TBC1D15_ENST00000485960.2_Splice_Site_p.K572N|TBC1D15_ENST00000319106.8_Splice_Site_p.K580N	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	589					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATACTTAAGGTAGTTATTC	0.333																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e16+1		TBC1 domain family, member 15							120.0	117.0	118.0					12																	72314627		2203	4300	6503	SO:0001630	splice_region_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72314627G>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1767+1G>T	12.37:g.72314627G>T						TBC1D15_ENST00000393309.3_Splice_Site_p.K343_splice|TBC1D15_ENST00000319106.8_Splice_Site_p.K580_splice|TBC1D15_ENST00000485960.2_Splice_Site_p.K572_splice	p.K589_splice	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			16	1831	+			589					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP	ENST00000550746.1	37	c.1767_splice	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640372	0.87859	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.49	5.49	0.81192	Rab-GAP/TBC domain (1);	0.156396	0.56097	D	0.000029	T	0.44456	0.1294	M	0.69358	2.11	0.80722	D	1	D;D;P	0.56521	0.959;0.976;0.911	P;P;B	0.53185	0.653;0.72;0.351	T	0.42137	-0.9469	10	0.87932	D	0	-0.9575	19.4298	0.94759	0.0:0.0:1.0:0.0	.	580;572;589	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	N	589;580;572;343	ENSP00000448182:K589N;ENSP00000318262:K580N;ENSP00000420678:K572N;ENSP00000376986:K343N	ENSP00000318262:K580N	K	+	3	2	TBC1D15	70600894	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.750000	0.98875	2.604000	0.88044	0.579000	0.79373	AAG		0.333	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	Missense_Mutation	7	100	1	0	0.0293803	1	0.0301098	7	100				
LTBP1	4052	broad.mit.edu	37	2	33590519	33590519	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33590519T>C	ENST00000404816.2	+	31	5013	c.4660T>C	c.(4660-4662)Tat>Cat	p.Y1554H	LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1228H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1186H|LTBP1_ENST00000272273.5_Missense_Mutation_p.Y452H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1175H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1555H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1229H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1173H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1554	TB 4.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCTGTCTGTATGGAGAGGC	0.542																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4660-4662)Tat>Cat		latent transforming growth factor beta binding protein 1							119.0	112.0	115.0					2																	33590519		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33590519T>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4660T>C	2.37:g.33590519T>C	ENSP00000386043:p.Tyr1554His					LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1173H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1175H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1555H|LTBP1_ENST00000272273.5_Missense_Mutation_p.Y452H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1229H|LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1228H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1186H	p.Y1554H			Q14766	LTBP1_HUMAN			31	5013	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1554			TB 4.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4660T>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683113	0.47991	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.52	5.52	0.82312	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	D	0.93070	0.7794	L	0.41824	1.3	0.45161	D	0.998175	B;P;D;B;B;D;P	0.76494	0.294;0.544;0.995;0.065;0.25;0.999;0.488	B;P;P;B;B;D;B	0.68943	0.21;0.461;0.883;0.03;0.133;0.961;0.331	D	0.90804	0.4696	9	0.16420	T	0.52	.	15.6564	0.77140	0.0:0.0:0.0:1.0	.	452;1554;1186;1175;1228;1229;1555	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	H	1554;1555;1229;1186;1173;1175;1228;452	ENSP00000386043:Y1554H;ENSP00000346467:Y1555H;ENSP00000374653:Y1229H;ENSP00000393057:Y1186H;ENSP00000384373:Y1173H;ENSP00000385359:Y1175H;ENSP00000384091:Y1228H;ENSP00000272273:Y452H	ENSP00000272273:Y452H	Y	+	1	0	LTBP1	33444023	1.000000	0.71417	0.920000	0.36463	0.967000	0.64934	4.945000	0.63568	2.100000	0.63781	0.533000	0.62120	TAT		0.542	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		8	62	0	0	0	1	0	8	62				
NEIL3	55247	broad.mit.edu	37	4	178274725	178274725	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178274725A>G	ENST00000264596.3	+	8	1421	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	435					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCCCTCCAAGAAGACAACAAA	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1303-1305)Aag>Gag	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							86.0	83.0	84.0					4																	178274725		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178274725A>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1303A>G	4.37:g.178274725A>G	ENSP00000264596:p.Lys435Glu					RP11-376O6.2_ENST00000506895.1_RNA	p.K435E	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	8	1421	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	435					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1303A>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.985957	0.00443	.	.	ENSG00000109674	ENST00000264596	T	0.03717	3.83	5.09	2.41	0.29592	.	0.523083	0.22560	N	0.058464	T	0.01287	0.0042	N	0.02213	-0.635	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.48636	-0.9018	10	0.02654	T	1	-11.8475	6.9046	0.24301	0.4661:0.0:0.5339:0.0	.	435	Q8TAT5	NEIL3_HUMAN	E	435	ENSP00000264596:K435E	ENSP00000264596:K435E	K	+	1	0	NEIL3	178511719	0.775000	0.28604	0.060000	0.19600	0.221000	0.24807	1.093000	0.30939	0.317000	0.23160	-0.479000	0.04858	AAG		0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		6	62	0	0	0	1	0	6	62				
KCNMB4	27345	broad.mit.edu	37	12	70760564	70760564	+	Missense_Mutation	SNP	G	G	A	rs536892206		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70760564G>A	ENST00000258111.4	+	1	509	c.50G>A	c.(49-51)aGc>aAc	p.S17N		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	17					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GAGGACAAGAGCATCCGGCTC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10597	0.0		0.0	False		,,,				2504	0.0					ENST00000258111.4																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.(49-51)aGc>aAc		potassium large conductance calcium-activated channel, subfamily M, beta member 4							39.0	31.0	34.0					12																	70760564		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70760564G>A	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.50G>A	12.37:g.70760564G>A	ENSP00000258111:p.Ser17Asn						p.S17N	NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		1	509	+	Renal(347;0.236)		17					Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.50G>A	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996009	0.74703	.	.	ENSG00000135643	ENST00000258111	T	0.11277	2.79	3.09	3.09	0.35607	.	0.000000	0.85682	U	0.000000	T	0.26231	0.0640	L	0.51422	1.61	0.47276	D	0.999375	D	0.56287	0.975	D	0.74023	0.982	T	0.03139	-1.1068	10	0.66056	D	0.02	0.1611	14.5168	0.67824	0.0:0.0:1.0:0.0	.	17	Q86W47	KCMB4_HUMAN	N	17	ENSP00000258111:S17N	ENSP00000258111:S17N	S	+	2	0	KCNMB4	69046831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	1.421000	0.47157	0.430000	0.28490	AGC		0.672	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		9	17	0	0	0	1	0	9	17				
GNL2	29889	broad.mit.edu	37	1	38048423	38048423	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38048423T>C	ENST00000373062.3	-	7	849	c.751A>G	c.(751-753)Att>Gtt	p.I251V		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	251	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGTACAAAAATGAGGTGTTTC	0.383																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(751-753)Att>Gtt		guanine nucleotide binding protein-like 2 (nucleolar)							176.0	168.0	171.0					1																	38048423		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38048423T>C	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.751A>G	1.37:g.38048423T>C	ENSP00000362153:p.Ile251Val						p.I251V	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			7	849	-		Myeloproliferative disorder(586;0.0393)	251					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.751A>G	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088680	0.55968	.	.	ENSG00000134697	ENST00000373062;ENST00000545489	T	0.13901	2.55	5.86	4.7	0.59300	.	0.046986	0.85682	D	0.000000	T	0.06690	0.0171	N	0.11131	0.1	0.80722	D	1	P	0.40515	0.719	B	0.37091	0.241	T	0.23619	-1.0183	10	0.07325	T	0.83	-14.374	13.0129	0.58741	0.0:0.0:0.1348:0.8652	.	251	Q13823	NOG2_HUMAN	V	251;92	ENSP00000362153:I251V	ENSP00000362153:I251V	I	-	1	0	GNL2	37821010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.230000	0.72301	0.992000	0.38840	0.477000	0.44152	ATT		0.383	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		15	122	0	0	0	1	0	15	122				
FMR1NB	158521	broad.mit.edu	37	X	147088322	147088322	+	Silent	SNP	G	G	A	rs373436804		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147088322G>A	ENST00000370467.3	+	3	572	c.498G>A	c.(496-498)tcG>tcA	p.S166S	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	166	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCATCATCGGGGACCACGA	0.368																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(496-498)tcG>tcA		fragile X mental retardation 1 neighbor		G		0,3835		0,0,1632,571	179.0	156.0	163.0		498	-9.1	0.0	X		163	1,6727		0,1,2427,1872	no	coding-synonymous	FMR1NB	NM_152578.2		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		166/256	147088322	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	158521					integral to membrane		g.chrX:147088322G>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.498G>A	X.37:g.147088322G>A							p.S166S	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			3	572	+	Acute lymphoblastic leukemia(192;6.56e-05)		166			P-type.		D3DWT3	Silent	SNP	ENST00000370467.3	37	c.498G>A	CCDS14683.1																																																																																				0.368	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		14	129	0	0	0	1	0	14	129				
PCDHB3	56132	broad.mit.edu	37	5	140481938	140481938	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140481938T>C	ENST00000231130.2	+	1	1705	c.1705T>C	c.(1705-1707)Tcc>Ccc	p.S569P	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAACGGCTCCGCGCCCTG	0.716																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1705-1707)Tcc>Ccc									12.0	16.0	14.0					5																	140481938		2157	4191	6348	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481938T>C	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1705T>C	5.37:g.140481938T>C	ENSP00000231130:p.Ser569Pro						p.S569P	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1705	+			569			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1705T>C	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784965	0.49997	.	.	ENSG00000113205	ENST00000231130	T	0.60040	0.22	4.24	2.86	0.33363	Cadherin-like (1);	.	.	.	.	T	0.48259	0.1490	L	0.41573	1.285	0.20563	N	0.99989	P	0.36753	0.568	B	0.41374	0.355	T	0.46596	-0.9180	9	0.72032	D	0.01	.	4.2679	0.10771	0.428:0.0:0.1433:0.4287	.	569	Q9Y5E6	PCDB3_HUMAN	P	569	ENSP00000231130:S569P	ENSP00000231130:S569P	S	+	1	0	PCDHB3	140462122	0.000000	0.05858	0.987000	0.45799	0.982000	0.71751	-0.446000	0.06837	1.689000	0.51079	0.454000	0.30748	TCC		0.716	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		5	51	0	0	0	1	0	5	51				
NF1	4763	broad.mit.edu	37	17	29508800	29508800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508800G>A	ENST00000358273.4	+	7	1110	c.727G>A	c.(727-729)Gct>Act	p.A243T	NF1_ENST00000356175.3_Missense_Mutation_p.A243T|NF1_ENST00000431387.4_Missense_Mutation_p.A243T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	243					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGATATGGCTGGTAAGGA	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(727-729)Gct>Act		neurofibromin 1							58.0	59.0	58.0					17																	29508800		2203	4291	6494	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508800G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.727G>A	17.37:g.29508800G>A	ENSP00000351015:p.Ala243Thr	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Missense_Mutation_p.A243T|NF1_ENST00000356175.3_Missense_Mutation_p.A243T	p.A243T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1110	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	243					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.727G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283537	0.95489	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.80214	-1.35;-1.35;-1.35	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	L	0.60455	1.87	0.80722	D	1	P;D;P;P;D	0.67145	0.807;0.996;0.87;0.884;0.996	B;D;B;B;D	0.76071	0.344;0.987;0.297;0.396;0.987	D	0.87319	0.2317	10	0.49607	T	0.09	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	243;243;243;243;243	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	T	243	ENSP00000412921:A243T;ENSP00000351015:A243T;ENSP00000348498:A243T	ENSP00000348498:A243T	A	+	1	0	NF1	26532926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.858000	0.92256	2.793000	0.96121	0.655000	0.94253	GCT		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	48	0	0	0	1	0	18	48				
APOL5	80831	broad.mit.edu	37	22	36122598	36122598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122598G>A	ENST00000249044.2	+	3	483	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	161					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAGCACCTGTGACAGCAGGAG	0.542																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(481-483)gtG>gtA		apolipoprotein L, 5							66.0	68.0	68.0					22																	36122598		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122598G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.483G>A	22.37:g.36122598G>A							p.V161V	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	483	+			161					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.483G>A	CCDS13920.1																																																																																				0.542	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		29	57	0	0	0	1	0	29	57				
APOBEC2	10930	broad.mit.edu	37	6	41029259	41029259	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41029259G>C	ENST00000244669.2	+	2	368	c.324G>C	c.(322-324)ctG>ctC	p.L108L		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	108					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACCATCCTGCCAGCCTTCG	0.577																																					Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(322-324)ctG>ctC		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2							149.0	128.0	135.0					6																	41029259		2203	4300	6503	SO:0001819	synonymous_variant	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029259G>C	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.324G>C	6.37:g.41029259G>C							p.L108L	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	368	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		108					B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	c.324G>C	CCDS4848.1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739747	0.15642	.	.	ENSG00000124701	ENST00000426505	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	T	0.68550	0.3013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74694	-0.3579	5	0.87932	D	0	.	15.127	0.72489	0.0:0.0:0.8576:0.1424	.	.	.	.	S	73	.	ENSP00000395214:C73S	C	+	2	0	APOBEC2	41137237	0.999000	0.42202	1.000000	0.80357	0.955000	0.61496	0.516000	0.22817	1.379000	0.46325	-0.182000	0.12963	TGC		0.577	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		44	71	0	0	0	1	0	44	71				
ABCB5	340273	broad.mit.edu	37	7	20682994	20682994	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20682994A>C	ENST00000404938.2	+	6	1154	c.502A>C	c.(502-504)Aca>Cca	p.T168P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	168	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACTCGCATGACAGAGTAAGA	0.383																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(502-504)Aca>Cca		ATP-binding cassette, sub-family B (MDR/TAP), member 5							131.0	115.0	120.0					7																	20682994		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682994A>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.502A>C	7.37:g.20682994A>C	ENSP00000384881:p.Thr168Pro						p.T168P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	1154	+			354			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.502A>C	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339621	0.41398	.	.	ENSG00000004846	ENST00000404938	D	0.91843	-2.92	4.07	4.07	0.47477	.	.	.	.	.	D	0.95674	0.8593	M	0.87971	2.92	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	D	0.95961	0.8962	9	0.87932	D	0	.	11.6518	0.51292	1.0:0.0:0.0:0.0	.	168	A7BKA4	.	P	168	ENSP00000384881:T168P	ENSP00000384881:T168P	T	+	1	0	ABCB5	20649519	0.935000	0.31712	0.988000	0.46212	0.187000	0.23431	2.911000	0.48774	2.068000	0.61886	0.460000	0.39030	ACA		0.383	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		8	57	0	0	0	1	0	8	57				
HERC3	8916	broad.mit.edu	37	4	89577217	89577217	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89577217T>C	ENST00000402738.1	+	9	1308				HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000407637.1_Missense_Mutation_p.V367A	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AATTTAAAGGTATTTTAAGTG	0.383																																						ENST00000407637.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1099-1101)gTa>gCa		HECT and RLD domain containing E3 ubiquitin protein ligase 3							40.0	40.0	40.0					4																	89577217		2203	4300	6503	SO:0001627	intron_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89577217T>C	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1069+31T>C	4.37:g.89577217T>C						HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	p.V367A			Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	9	1266	+			0					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1100T>C	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209189	0.22205	.	.	ENSG00000138641	ENST00000407637	T	0.43294	0.95	4.1	2.92	0.33932	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.09310	N	0.999997	B	0.12630	0.006	B	0.12156	0.007	T	0.20338	-1.0278	7	.	.	.	.	7.6685	0.28445	0.0:0.1028:0.0:0.8972	.	367	Q8IXX3	.	A	367	ENSP00000384005:V367A	.	V	+	2	0	HERC3	89796240	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.198000	0.17217	0.748000	0.32831	0.533000	0.62120	GTA		0.383	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		11	20	0	0	0	1	0	11	20				
RELN	5649	broad.mit.edu	37	7	103138684	103138684	+	Missense_Mutation	SNP	G	G	A	rs573510714		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103138684G>A	ENST00000428762.1	-	54	8842	c.8683C>T	c.(8683-8685)Cgc>Tgc	p.R2895C	RELN_ENST00000424685.2_Missense_Mutation_p.R2895C|RELN_ENST00000343529.5_Missense_Mutation_p.R2895C|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGTCAAAGCGTTCCTTCAGG	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16734	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8683-8685)Cgc>Tgc		reelin							93.0	82.0	86.0					7																	103138684		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138684G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8683C>T	7.37:g.103138684G>A	ENSP00000392423:p.Arg2895Cys					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.R2895C|RELN_ENST00000424685.2_Missense_Mutation_p.R2895C	p.R2895C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8842	-			2895					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8683C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857067	0.91433	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24908	1.83;1.83;1.83	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.982	T	0.29366	-1.0014	10	0.59425	D	0.04	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	2895;2895	P78509-2;P78509	.;RELN_HUMAN	C	2895;2895;2895;412;2895	ENSP00000392423:R2895C;ENSP00000345694:R2895C;ENSP00000388446:R2895C	ENSP00000345694:R2895C	R	-	1	0	RELN	102925920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.209000	0.95087	2.793000	0.96121	0.655000	0.94253	CGC		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		9	77	0	0	0	1	0	9	77				
SYNPO2	171024	broad.mit.edu	37	4	119951996	119951996	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951996G>A	ENST00000429713.2	+	4	2248	c.2066G>A	c.(2065-2067)aGg>aAg	p.R689K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.R689K	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	689						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGCCAAAAGGAGAAGCACG	0.468																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2065-2067)aGg>aAg		synaptopodin 2							85.0	94.0	91.0					4																	119951996		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951996G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2066G>A	4.37:g.119951996G>A	ENSP00000395143:p.Arg689Lys					SYNPO2_ENST00000429713.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000448416.2_Intron	p.R689K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	2262	+			689					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2066G>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201202	0.58234	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.19105	2.17;2.19;2.18	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	T	0.37320	0.0999	L	0.55213	1.73	0.80722	D	1	P;P;P;P	0.51351	0.577;0.884;0.944;0.816	P;P;D;B	0.63381	0.573;0.509;0.914;0.432	T	0.02721	-1.1119	9	.	.	.	-18.2269	12.0885	0.53710	0.0789:0.0:0.9211:0.0	.	689;689;689;689	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	K	689	ENSP00000306015:R689K;ENSP00000395143:R689K;ENSP00000390965:R689K	.	R	+	2	0	SYNPO2	120171444	1.000000	0.71417	0.986000	0.45419	0.912000	0.54170	3.467000	0.53078	2.413000	0.81919	0.655000	0.94253	AGG		0.468	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			13	22	0	0	0	1	0	13	22				
BBS4	585	broad.mit.edu	37	15	73029112	73029112	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73029112A>C	ENST00000268057.4	+	15	1299	c.1258A>C	c.(1258-1260)Atg>Ctg	p.M420L	BBS4_ENST00000395205.2_Missense_Mutation_p.M428L|BBS4_ENST00000539603.1_Missense_Mutation_p.M408L|BBS4_ENST00000542334.1_Missense_Mutation_p.M248L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	420	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GATGGTGGAGATGGCTCAGAA	0.498									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1258-1260)Atg>Ctg		Bardet-Biedl syndrome 4							82.0	74.0	77.0					15																	73029112		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73029112A>C	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1258A>C	15.37:g.73029112A>C	ENSP00000268057:p.Met420Leu					BBS4_ENST00000542334.1_Missense_Mutation_p.M248L|BBS4_ENST00000395205.2_Missense_Mutation_p.M428L|BBS4_ENST00000539603.1_Missense_Mutation_p.M408L	p.M420L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			15	1299	+			420			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1258A>C	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241435	0.39598	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.8	3.51	0.40186	.	0.139822	0.64402	D	0.000003	T	0.52240	0.1722	L	0.49350	1.555	0.33326	D	0.567946	B;B;B	0.10296	0.003;0.001;0.002	B;B;B	0.13407	0.009;0.002;0.004	T	0.54708	-0.8253	10	0.30078	T	0.28	-3.7235	8.8052	0.34934	0.7457:0.0:0.2543:0.0	.	408;428;420	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	L	248;420;408;428	ENSP00000445964:M248L;ENSP00000268057:M420L;ENSP00000442492:M408L;ENSP00000378631:M428L	ENSP00000268057:M420L	M	+	1	0	BBS4	70816165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.063000	0.49978	0.479000	0.27511	0.533000	0.62120	ATG		0.498	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		9	67	0	0	0	1	0	9	67				
C7orf60	154743	broad.mit.edu	37	7	112461820	112461820	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112461820G>A	ENST00000297145.4	-	5	1362	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	399							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTAATATGGGGTCTTCTAGCT	0.393																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1195-1197)gaC>gaT		chromosome 7 open reading frame 60							96.0	91.0	92.0					7																	112461820		1813	4077	5890	SO:0001819	synonymous_variant	154743							g.chr7:112461820G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.1197C>T	7.37:g.112461820G>A							p.D399D	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			5	1362	-			399					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.1197C>T	CCDS43634.1																																																																																				0.393	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		89	80	0	0	0	1	0	89	80				
SLC28A1	9154	broad.mit.edu	37	15	85478633	85478633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85478633C>A	ENST00000286749.3	+	14	1555	c.1465C>A	c.(1465-1467)Ctg>Atg	p.L489M	SLC28A1_ENST00000537216.1_Missense_Mutation_p.L489M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L489M|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L489M|SLC28A1_ENST00000538177.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	489					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	AGCTGAGCTGCTGGGGATCAA	0.597																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1465-1467)Ctg>Atg		solute carrier family 28 (concentrative nucleoside transporter), member 1							133.0	109.0	117.0					15																	85478633		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478633C>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1465C>A	15.37:g.85478633C>A	ENSP00000286749:p.Leu489Met					SLC28A1_ENST00000537624.1_Missense_Mutation_p.L489M|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L489M|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L489M	p.L489M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1667	+			489					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1465C>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610973	0.46631	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	5.19	5.19	0.71726	Na dependent nucleoside transporter, C-terminal (1);	0.072669	0.56097	D	0.000023	T	0.10937	0.0267	L	0.35793	1.09	0.80722	D	1	P;P;P	0.52316	0.952;0.593;0.952	P;P;P	0.48952	0.596;0.461;0.596	T	0.00628	-1.1637	10	0.66056	D	0.02	-21.2848	9.5937	0.39561	0.0:0.9078:0.0:0.0922	.	489;489;489	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	M	489	ENSP00000440546:L489M;ENSP00000444700:L489M;ENSP00000286749:L489M;ENSP00000378074:L489M	ENSP00000286749:L489M	L	+	1	2	SLC28A1	83279637	0.940000	0.31905	0.999000	0.59377	0.454000	0.32378	1.317000	0.33631	2.698000	0.92095	0.455000	0.32223	CTG		0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			26	50	1	0	4.72057e-08	1	5.61655e-08	26	50				
MCM10	55388	broad.mit.edu	37	10	13214455	13214455	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13214455C>T	ENST00000484800.2	+	4	532	c.429C>T	c.(427-429)agC>agT	p.S143S	MCM10_ENST00000378714.3_Silent_p.S143S|MCM10_ENST00000378694.1_Silent_p.S143S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	143	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGACAGCAAGCCCAGCCCGTC	0.373																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(427-429)agC>agT		minichromosome maintenance complex component 10							93.0	102.0	99.0					10																	13214455		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13214455C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.429C>T	10.37:g.13214455C>T						MCM10_ENST00000484800.2_Silent_p.S143S|MCM10_ENST00000378714.3_Silent_p.S143S	p.S143S			Q7L590	MCM10_HUMAN			3	504	+			143					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.429C>T	CCDS7096.1																																																																																				0.373	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		8	101	0	0	0	1	0	8	101				
TPK1	27010	broad.mit.edu	37	7	144288549	144288549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144288549G>A	ENST00000360057.3	-	7	570	c.468C>T	c.(466-468)atC>atT	p.I156I	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000549981.1_Silent_p.I39I|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	156					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTCCTCTTGGATTATTATAA	0.443																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000549981.1																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(115-117)atC>atT		thiamin pyrophosphokinase 1	Thiamine(DB00152)						134.0	134.0	134.0					7																	144288549		2203	4300	6503	SO:0001819	synonymous_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144288549G>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.468C>T	7.37:g.144288549G>A						TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Silent_p.I156I	p.I39I			Q9H3S4	TPK1_HUMAN			9	840	-			156					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Silent	SNP	ENST00000360057.3	37	c.117C>T	CCDS5888.1																																																																																				0.443	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		104	71	0	0	0	1	0	104	71				
SF1	7536	broad.mit.edu	37	11	64533621	64533621	+	Missense_Mutation	SNP	G	G	A	rs372358136		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64533621G>A	ENST00000377390.3	-	13	1926	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	SF1_ENST00000377394.3_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.T504M|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000227503.9_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.T530M|SF1_ENST00000377387.1_Intron|SF1_ENST00000422298.2_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	530	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTGGTAGTCGTCGTATCTGG	0.677																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(1588-1590)aCg>aTg		splicing factor 1							34.0	43.0	40.0					11																	64533621		2131	4238	6369	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64533621G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1589C>T	11.37:g.64533621G>A	ENSP00000366607:p.Thr530Met					SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.T530M|SF1_ENST00000433274.2_Missense_Mutation_p.T504M|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron	p.T530M	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			13	1926	-			530			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1589C>T	CCDS31599.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318760|2.318760	0.41096|0.41096	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000413725|ENST00000377390;ENST00000334944;ENST00000433274	.|T;T;T	.|0.51325	.|0.71;0.78;0.72	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48429	.|0.1499	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.996;0.999	.|P;P	.|0.60286	.|0.63;0.872	.|T	.|0.56202	.|-0.8018	.|9	.|0.62326	.|D	.|0.03	.|.	16.4457|16.4457	0.83928|0.83928	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|530;530	.|Q15637;Q15637-2	.|SF01_HUMAN;.	X|M	100|530;530;504	.|ENSP00000366607:T530M;ENSP00000334414:T530M;ENSP00000396793:T504M	.|ENSP00000334414:T530M	R|T	-|-	1|2	2|0	SF1|SF1	64290197|64290197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.246000|5.246000	0.65411|0.65411	2.488000|2.488000	0.83962|0.83962	0.561000|0.561000	0.74099|0.74099	CGA|ACG		0.677	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		14	20	0	0	0	1	0	14	20				
TMCC1	23023	broad.mit.edu	37	3	129389913	129389913	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389913G>A	ENST00000393238.3	-	4	1111	c.771C>T	c.(769-771)gaC>gaT	p.D257D	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Silent_p.D78D|TMCC1_ENST00000426664.2_Silent_p.D143D	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	257						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGCAACGTTGTCGTCCCGGG	0.507																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(769-771)gaC>gaT		transmembrane and coiled-coil domain family 1							230.0	226.0	227.0					3																	129389913		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129389913G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.771C>T	3.37:g.129389913G>A						TMCC1_ENST00000329333.5_Silent_p.D78D|TMCC1_ENST00000426664.2_Silent_p.D143D|TMCC1_ENST00000432054.2_5'UTR	p.D257D	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1111	-			257					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.771C>T	CCDS33855.1																																																																																				0.507	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		69	89	0	0	0	1	0	69	89				
CDC20	991	broad.mit.edu	37	1	43825273	43825273	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43825273G>A	ENST00000372462.1	+	2	497	c.294G>A	c.(292-294)gaG>gaA	p.E98E	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Silent_p.E98E			Q12834	CDC20_HUMAN	cell division cycle 20	98					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGCAAGGAGAACCAGCCTG	0.562																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(292-294)gaG>gaA		cell division cycle 20							80.0	81.0	81.0					1																	43825273		2203	4300	6503	SO:0001819	synonymous_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825273G>A	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.294G>A	1.37:g.43825273G>A						CDC20_ENST00000310955.6_Silent_p.E98E	p.E98E			Q12834	CDC20_HUMAN			2	497	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	98					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	ENST00000372462.1	37	c.294G>A	CCDS484.1																																																																																				0.562	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		11	85	0	0	0	1	0	11	85				
ZMAT4	79698	broad.mit.edu	37	8	40554769	40554769	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:40554769G>A	ENST00000297737.6	-	4	490	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ZMAT4_ENST00000315769.7_Missense_Mutation_p.T115I	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	115						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T115I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CGTACCTGTGGTCTTTAATGG	0.507																																						ENST00000297737.6																			1	Substitution - Missense(1)	p.T115I(1)	NS(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(343-345)aCc>aTc		zinc finger, matrin-type 4							201.0	186.0	191.0					8																	40554769		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40554769G>A	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.344C>T	8.37:g.40554769G>A	ENSP00000297737:p.Thr115Ile					ZMAT4_ENST00000315769.7_Missense_Mutation_p.T115I	p.T115I	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		4	490	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	115					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.344C>T	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976798	0.34848	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.46063	0.89;0.88;0.9	6.17	5.3	0.74995	.	0.136231	0.47093	D	0.000246	T	0.27313	0.0670	N	0.08118	0	0.36384	D	0.862091	B;B	0.29341	0.129;0.242	B;B	0.32393	0.108;0.145	T	0.32481	-0.9905	10	0.42905	T	0.14	-13.3988	14.6413	0.68726	0.0689:0.0:0.9311:0.0	.	115;115	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	I	115	ENSP00000319785:T115I;ENSP00000297737:T115I;ENSP00000428423:T115I	ENSP00000297737:T115I	T	-	2	0	ZMAT4	40673926	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	5.119000	0.64679	1.635000	0.50512	0.655000	0.94253	ACC		0.507	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		38	76	0	0	0	1	0	38	76				
RNF130	55819	broad.mit.edu	37	5	179440075	179440075	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179440075G>A	ENST00000261947.4	-	3	1077	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	RNF130_ENST00000522208.2_Missense_Mutation_p.R227C|RNF130_ENST00000521389.1_Missense_Mutation_p.R227C|MIR340_ENST00000362125.1_RNA	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGTCGCGTGCATTTGTG	0.413																																					GBM(24;432 554 38471 39699 51728)	ENST00000522208.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(679-681)Cgc>Tgc		ring finger protein 130							193.0	166.0	175.0					5																	179440075		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179440075G>A	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.679C>T	5.37:g.179440075G>A	ENSP00000261947:p.Arg227Cys					RNF130_ENST00000261947.4_Missense_Mutation_p.R227C|RNF130_ENST00000521389.1_Missense_Mutation_p.R227C	p.R227C			Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	697	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	227						Missense_Mutation	SNP	ENST00000261947.4	37	c.679C>T		.	.	.	.	.	.	.	.	.	.	G	28.4	4.921167	0.92249	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.07567	3.18;3.19;3.2	5.79	5.79	0.91817	.	0.052604	0.85682	D	0.000000	T	0.28101	0.0693	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.96	T	0.00133	-1.2010	10	0.87932	D	0	.	20.0294	0.97532	0.0:0.0:1.0:0.0	.	244;227	Q59EL1;Q86XS8	.;GOLI_HUMAN	C	227	ENSP00000429509:R227C;ENSP00000430237:R227C;ENSP00000261947:R227C	ENSP00000261947:R227C	R	-	1	0	RNF130	179372681	1.000000	0.71417	0.982000	0.44146	0.959000	0.62525	6.529000	0.73812	2.723000	0.93209	0.655000	0.94253	CGC		0.413	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		61	107	0	0	0	1	0	61	107				
RAB36	9609	broad.mit.edu	37	22	23487629	23487629	+	Missense_Mutation	SNP	C	C	T	rs537591770		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23487629C>T	ENST00000263116.2	+	1	117	c.77C>T	c.(76-78)aCg>aTg	p.T26M	RTDR1_ENST00000406876.1_5'Flank|RAB36_ENST00000341989.4_Missense_Mutation_p.T26M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	26					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.T26K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ACGACGTCGACGATTCGTGTA	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13078	0.0		0.0	False		,,,				2504	0.0					ENST00000263116.2																			1	Substitution - Missense(1)	p.T26K(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(76-78)aCg>aTg		RAB36, member RAS oncogene family							49.0	56.0	54.0					22																	23487629		2203	4298	6501	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23487629C>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.77C>T	22.37:g.23487629C>T	ENSP00000263116:p.Thr26Met					RAB36_ENST00000341989.4_Missense_Mutation_p.T26M	p.T26M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	1	117	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		26					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.77C>T	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905219	0.33628	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.64085	-0.08;0.32	4.15	-2.27	0.06846	.	1.721820	0.03661	N	0.242562	T	0.40619	0.1124	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.023;0.013	B;B	0.08055	0.003;0.001	T	0.38134	-0.9675	10	0.72032	D	0.01	0.4463	6.5162	0.22248	0.185:0.4297:0.3853:0.0	.	26;26	O95755-2;O95755	.;RAB36_HUMAN	M	26	ENSP00000263116:T26M;ENSP00000343494:T26M	ENSP00000263116:T26M	T	+	2	0	RAB36	21817629	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.114000	0.15520	-0.256000	0.09473	-0.953000	0.02652	ACG		0.677	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		19	41	0	0	0	1	0	19	41				
CHL1	10752	broad.mit.edu	37	3	447371	447371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:447371G>T	ENST00000256509.2	+	28	4294	c.3652G>T	c.(3652-3654)Gca>Tca	p.A1218S	CHL1_ENST00000397491.2_Missense_Mutation_p.A1202S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGTTCTACAGCAACTTTTCC	0.438																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3652-3654)Gca>Tca		cell adhesion molecule L1-like							119.0	111.0	114.0					3																	447371		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:447371G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3652G>T	3.37:g.447371G>T	ENSP00000256509:p.Ala1218Ser					CHL1_ENST00000397491.2_Missense_Mutation_p.A1202S	p.A1218S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	28	4294	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1202					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3652G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427239	0.83667	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.69806	-0.43;-0.4	5.72	4.83	0.62350	.	0.311277	0.27563	N	0.018811	T	0.55401	0.1918	L	0.31120	0.905	0.39362	D	0.96594	P;P	0.43519	0.809;0.782	B;B	0.36885	0.235;0.223	T	0.63545	-0.6613	10	0.72032	D	0.01	.	16.686	0.85306	0.0:0.1298:0.8702:0.0	.	1202;1218	O00533;O00533-2	CHL1_HUMAN;.	S	1218;1202	ENSP00000256509:A1218S;ENSP00000380628:A1202S	ENSP00000256509:A1218S	A	+	1	0	CHL1	422371	1.000000	0.71417	0.005000	0.12908	0.997000	0.91878	7.946000	0.87746	1.384000	0.46424	0.655000	0.94253	GCA		0.438	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		30	33	1	0	1.22384e-17	1	1.58917e-17	30	33				
PRB4	5545	broad.mit.edu	37	12	11463274	11463274	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11463274C>A	ENST00000535904.1	-	1	92	c.59G>T	c.(58-60)aGt>aTt	p.S20I	PRB4_ENST00000279575.1_Missense_Mutation_p.S20I|PRB4_ENST00000445719.2_Missense_Mutation_p.S20I			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	0						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTTACCTTCACTTGAACTCTC	0.527										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(58-60)aGt>aTt		proline-rich protein BstNI subfamily 4							204.0	179.0	187.0					12																	11463274		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11463274C>A		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.59G>T	12.37:g.11463274C>A	ENSP00000442834:p.Ser20Ile	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Missense_Mutation_p.S20I|PRB4_ENST00000535904.1_Missense_Mutation_p.S20I	p.S20I	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			1	92	-			20					A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.59G>T	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	3.918	-0.018649	0.07681	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04603	3.59;3.59;3.59	1.07	-2.13	0.07144	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.11329	0.006	T	0.42982	-0.9419	9	0.87932	D	0	.	2.0277	0.03523	0.4644:0.2171:0.0:0.3185	.	20	E9PAL0	.	I	20	ENSP00000279575:S20I;ENSP00000442834:S20I;ENSP00000412740:S20I	ENSP00000279575:S20I	S	-	2	0	PRB4	11354541	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.688000	0.01925	-1.698000	0.01418	-0.497000	0.04613	AGT		0.527	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		39	103	1	0	4.44401e-20	1	5.82479e-20	39	103				
NHP2L1	4809	broad.mit.edu	37	22	42071031	42071031	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42071031G>T	ENST00000401959.1	-	4	609	c.293C>A	c.(292-294)cCt>cAt	p.P98H	NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98H|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102H|NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98H	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	98					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GGCGATGACAGGCCTGGAGAC	0.537																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(292-294)cCt>cAt		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							79.0	75.0	76.0					22																	42071031		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071031G>T		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.293C>A	22.37:g.42071031G>T	ENSP00000383949:p.Pro98His					NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98H|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98H|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102H	p.P98H	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	609	-			98						Missense_Mutation	SNP	ENST00000401959.1	37	c.293C>A	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827329	0.71143	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	H	0.95328	3.655	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.88386	0.3005	10	0.87932	D	0	.	19.4053	0.94646	0.0:0.0:1.0:0.0	.	98	P55769	NH2L1_HUMAN	H	98;98;98;102	ENSP00000347401:P98H;ENSP00000215956:P98H;ENSP00000383949:P98H;ENSP00000383989:P102H	ENSP00000215956:P98H	P	-	2	0	NHP2L1	40400977	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	9.421000	0.97455	2.666000	0.90696	0.591000	0.81541	CCT		0.537	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		7	62	1	0	2.7689e-08	1	3.31013e-08	7	62				
IGSF9B	22997	broad.mit.edu	37	11	133799568	133799568	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133799568A>C	ENST00000321016.8	-	12	1859	c.1629T>G	c.(1627-1629)gtT>gtG	p.V543V	IGSF9B_ENST00000533871.2_Silent_p.V543V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	543	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCGTACCAAACTGAGAATG	0.622																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1627-1629)gtT>gtG		immunoglobulin superfamily, member 9B							114.0	133.0	126.0					11																	133799568		2104	4207	6311	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133799568A>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1629T>G	11.37:g.133799568A>C						IGSF9B_ENST00000533871.2_Silent_p.V543V	p.V543V			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	12	1859	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	543			Fibronectin type-III 1.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.1629T>G																																																																																					0.622	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		18	28	0	0	0	1	0	18	28				
POLH	5429	broad.mit.edu	37	6	43573029	43573029	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43573029G>T	ENST00000372236.4	+	9	1342	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	POLH_ENST00000372226.1_Missense_Mutation_p.E349D|POLH_ENST00000535400.1_Missense_Mutation_p.E287D	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGGAACTAGAGGAGAGACTGA	0.373								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													ENST00000372236.4																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1045-1047)gaG>gaT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), eta							101.0	94.0	96.0					6																	43573029		2203	4300	6503	SO:0001583	missense	5429	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43573029G>T	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1047G>T	6.37:g.43573029G>T	ENSP00000361310:p.Glu349Asp					POLH_ENST00000535400.1_Missense_Mutation_p.E287D|POLH_ENST00000372226.1_Missense_Mutation_p.E349D	p.E349D	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		9	1342	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		349					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.1047G>T	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883394	0.33255	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.36157	1.27;1.27;1.27	5.71	2.54	0.30619	DNA polymerase, Y-family, little finger domain (2);	0.049808	0.85682	D	0.000000	T	0.19366	0.0465	M	0.62209	1.925	0.53688	D	0.999975	B;B	0.27117	0.168;0.102	B;B	0.27380	0.079;0.044	T	0.05022	-1.0911	10	0.36615	T	0.2	-15.3192	11.3363	0.49505	0.2415:0.0:0.7585:0.0	.	287;349	B4DG64;Q9Y253	.;POLH_HUMAN	D	349;287;349	ENSP00000361310:E349D;ENSP00000442102:E287D;ENSP00000361300:E349D	ENSP00000361300:E349D	E	+	3	2	POLH	43681007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.945000	0.29056	0.776000	0.33473	0.561000	0.74099	GAG		0.373	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		8	15	1	0	5.18039e-06	1	5.91835e-06	8	15				
PTCH1	5727	broad.mit.edu	37	9	98239054	98239054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98239054C>T	ENST00000331920.6	-	11	1888	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	PTCH1_ENST00000430669.2_Missense_Mutation_p.R464K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R379K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R379K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R529K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R464K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R379K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	530	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAAGGGATTCTTTTATTCTG	0.418																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1390-1392)aGa>aAa		patched 1							121.0	107.0	111.0					9																	98239054		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239054C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1589G>A	9.37:g.98239054C>T	ENSP00000332353:p.Arg530Lys					PTCH1_ENST00000331920.6_Missense_Mutation_p.R530K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R379K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R529K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R379K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R379K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R464K	p.R464K			Q13635	PTC1_HUMAN			11	1976	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	530			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1391G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904309	0.92035	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.54	5.54	0.83059	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.82296	0.5006	N	0.14661	0.345	0.80722	D	1	P;B;B;B	0.42871	0.792;0.055;0.063;0.136	B;B;B;B	0.40066	0.318;0.056;0.117;0.186	T	0.80754	-0.1241	10	0.05620	T	0.96	-20.4564	19.6787	0.95950	0.0:1.0:0.0:0.0	.	379;464;529;530	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	K	530;464;379;379;464;379;529;195	ENSP00000332353:R530K;ENSP00000389744:R464K;ENSP00000399981:R379K;ENSP00000396135:R379K;ENSP00000410287:R464K;ENSP00000414823:R379K;ENSP00000364423:R529K;ENSP00000364420:R195K	ENSP00000332353:R530K	R	-	2	0	PTCH1	97278875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.884000	0.98904	0.655000	0.94253	AGA		0.418	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		5	14	0	0	0	1	0	5	14				
CRACR2A	84766	broad.mit.edu	37	12	3788249	3788249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788249C>T	ENST00000252322.1	-	6	824	c.356G>A	c.(355-357)aGc>aAc	p.S119N	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.S119N|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S119N	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		119	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTTATTCTGGCTGAAGAAGAA	0.537																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(355-357)aGc>aAc		EF-hand calcium binding domain 4B							116.0	100.0	105.0					12																	3788249		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788249C>T																												ENST00000252322.1:c.356G>A	12.37:g.3788249C>T	ENSP00000252322:p.Ser119Asn					EFCAB4B_ENST00000252322.1_Missense_Mutation_p.S119N|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S119N	p.S119N	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	829	-			119			EF-hand 2.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.356G>A	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858596	0.51376	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.23552	1.9;1.9;1.9	4.76	4.76	0.60689	EF-hand-like domain (1);	0.102697	0.64402	D	0.000001	T	0.20210	0.0486	L	0.40543	1.245	0.28517	N	0.913257	B;B;B	0.23377	0.084;0.002;0.067	B;B;B	0.18263	0.021;0.005;0.014	T	0.09975	-1.0650	10	0.15952	T	0.53	-14.8863	13.2754	0.60184	0.0:1.0:0.0:0.0	.	119;119;119	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	N	119	ENSP00000409382:S119N;ENSP00000412496:S119N;ENSP00000252322:S119N	ENSP00000252322:S119N	S	-	2	0	EFCAB4B	3658510	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.524000	0.45589	2.176000	0.68965	0.561000	0.74099	AGC		0.537	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			25	35	0	0	0	1	0	25	35				
KCNMB2	10242	broad.mit.edu	37	3	178543541	178543541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178543541G>A	ENST00000432997.1	+	3	574	c.222G>A	c.(220-222)atG>atA	p.M74I	RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.M74I|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000425330.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	85					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GCTCATACATGCAGAGGTAAT	0.532																																						ENST00000432997.1																			0				NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(220-222)atG>atA		potassium large conductance calcium-activated channel, subfamily M, beta member 2							172.0	161.0	165.0					3																	178543541		2203	4300	6503	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178543541G>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.222G>A	3.37:g.178543541G>A	ENSP00000407592:p.Met74Ile					KCNMB2_ENST00000452583.1_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M74I	p.M74I	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		3	574	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		74					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.222G>A	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940738	0.34283	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000455865;ENST00000358316;ENST00000457763	T;T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98;2.98	5.39	5.39	0.77823	.	0.232264	0.51477	D	0.000087	T	0.09949	0.0244	N	0.25485	0.75	0.37307	D	0.908974	B	0.30870	0.298	B	0.33042	0.157	T	0.21999	-1.0229	10	0.10636	T	0.68	-17.5236	19.1488	0.93479	0.0:0.0:1.0:0.0	.	74	Q9Y691	KCMB2_HUMAN	I	74;74;74;74;74;74;55	ENSP00000395807:M74I;ENSP00000408252:M74I;ENSP00000397483:M74I;ENSP00000407592:M74I;ENSP00000399100:M74I;ENSP00000351068:M74I	ENSP00000351068:M74I	M	+	3	0	KCNMB2	180026235	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.136000	0.50554	2.538000	0.85594	0.655000	0.94253	ATG		0.532	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		10	151	0	0	0	1	0	10	151				
PLEC	5339	broad.mit.edu	37	8	145011406	145011406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145011406C>T	ENST00000322810.4	-	4	849	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	PLEC_ENST00000527096.1_Missense_Mutation_p.R117Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R90Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R76Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R68Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R58Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R117Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R94Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R90Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	227	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCCTTCTCCCGGGGCTGTGG	0.677																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(679-681)cGg>cAg		plectin							51.0	62.0	59.0					8																	145011406		2191	4293	6484	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145011406C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.680G>A	8.37:g.145011406C>T	ENSP00000323856:p.Arg227Gln					PLEC_ENST00000354589.3_Missense_Mutation_p.R90Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R90Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R68Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R76Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R94Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R117Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R117Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R58Q	p.R227Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			4	849	-			227			Actin-binding.|CH 1.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.680G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201162	0.79015	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95724	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.79;-3.56;-3.56	5.72	5.72	0.89469	Calponin homology domain (5);	0.000000	0.64402	U	0.000017	D	0.97720	0.9252	M	0.80616	2.505	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.99;0.99;0.994;0.99;0.99;0.99;0.99	D	0.98231	1.0483	10	0.87932	D	0	.	17.3701	0.87374	0.0:1.0:0.0:0.0	.	117;76;68;227;58;90;94;90	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	90;94;90;58;227;68;76;117;117;134;67;107	ENSP00000344848:R90Q;ENSP00000350277:R94Q;ENSP00000346602:R90Q;ENSP00000381756:R58Q;ENSP00000323856:R227Q;ENSP00000347044:R68Q;ENSP00000348702:R76Q;ENSP00000388180:R117Q;ENSP00000434583:R117Q;ENSP00000437303:R134Q;ENSP00000433557:R67Q;ENSP00000436702:R107Q	ENSP00000323856:R227Q	R	-	2	0	PLEC	145083394	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.614000	0.82996	2.713000	0.92767	0.655000	0.94253	CGG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	16	0	0	0	1	0	6	16				
CRB2	286204	broad.mit.edu	37	9	126132729	126132729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126132729G>A	ENST00000373631.3	+	7	1398	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	CRB2_ENST00000373629.2_Missense_Mutation_p.R134H|CRB2_ENST00000359999.3_Missense_Mutation_p.R466H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	466	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGAGGTTTCGCACCACACTG	0.612																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1396-1398)cGc>cAc		crumbs homolog 2 (Drosophila)							48.0	44.0	45.0					9																	126132729		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132729G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1397G>A	9.37:g.126132729G>A	ENSP00000362734:p.Arg466His					CRB2_ENST00000359999.3_Missense_Mutation_p.R466H|CRB2_ENST00000373629.2_Missense_Mutation_p.R134H	p.R466H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1398	+			466			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1397G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198729	0.79015	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;T;D	0.84370	-1.84;-0.53;-1.84	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43110	D	0.000620	D	0.93324	0.7872	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.988	D	0.94359	0.7586	10	0.66056	D	0.02	.	18.1625	0.89714	0.0:0.0:1.0:0.0	.	466;466	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	H	466;466;134	ENSP00000353092:R466H;ENSP00000362734:R466H;ENSP00000362732:R134H	ENSP00000353092:R466H	R	+	2	0	CRB2	125172550	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	6.210000	0.72176	2.297000	0.77311	0.448000	0.29417	CGC		0.612	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		16	22	0	0	0	1	0	16	22				
PLXNB2	23654	broad.mit.edu	37	22	50718975	50718975	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50718975A>T	ENST00000449103.1	-	25	4258	c.4118T>A	c.(4117-4119)tTc>tAc	p.F1373Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1373Y|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1373					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTCCAGGAAGAGCGTGTG	0.672																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4117-4119)tTc>tAc		plexin B2							87.0	94.0	92.0					22																	50718975		2192	4295	6487	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718975A>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4118T>A	22.37:g.50718975A>T	ENSP00000409171:p.Phe1373Tyr					PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1373Y	p.F1373Y			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	25	4258	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1373					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4118T>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	A	33	5.208418	0.95069	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.11712	2.75;2.75	4.28	4.28	0.50868	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.075473	0.56097	D	0.000025	T	0.20981	0.0505	L	0.43152	1.355	0.42273	D	0.992068	D	0.57571	0.98	P	0.58721	0.844	T	0.01114	-1.1447	10	0.87932	D	0	.	13.8418	0.63444	1.0:0.0:0.0:0.0	.	1373	O15031	PLXB2_HUMAN	Y	1373;1373;5	ENSP00000409171:F1373Y;ENSP00000352288:F1373Y	ENSP00000352288:F1373Y	F	-	2	0	PLXNB2	49061102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.881000	0.75584	1.915000	0.55452	0.459000	0.35465	TTC		0.672	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		10	59	0	0	0	1	0	10	59				
ANKRD13D	338692	broad.mit.edu	37	11	67068588	67068588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67068588C>T	ENST00000447274.2	+	11	2115	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R51C|SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R314C|SSH3_ENST00000376757.5_5'Flank|SSH3_ENST00000308127.4_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R401C|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R314C			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	314						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCACTCTGCGCCTTCCACC	0.622																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(940-942)Cgc>Tgc		ankyrin repeat domain 13 family, member D							124.0	107.0	113.0					11																	67068588		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67068588C>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.940C>T	11.37:g.67068588C>T	ENSP00000402616:p.Arg314Cys					ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R314C|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R401C|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R51C|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R314C	p.R314C			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	2115	+			314					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.940C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.987031	0.74589	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.86	2.99	0.34606	.	0.264507	0.37669	N	0.001991	T	0.60327	0.2260	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.66847	0.827;0.947;0.892	T	0.59947	-0.7358	10	0.87932	D	0	-10.9856	5.9087	0.19016	0.1903:0.642:0.0:0.1677	.	51;401;314	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	C	314;401;314;314;51	ENSP00000402616:R314C;ENSP00000427130:R401C;ENSP00000310874:R314C;ENSP00000444404:R314C;ENSP00000443977:R51C	ENSP00000310874:R314C	R	+	1	0	ANKRD13D	66825164	0.044000	0.20184	0.993000	0.49108	0.933000	0.57130	0.337000	0.19841	0.647000	0.30713	0.561000	0.74099	CGC		0.622	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		14	23	0	0	0	1	0	14	23				
SERPINA4	5267	broad.mit.edu	37	14	95033320	95033320	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95033320A>T	ENST00000557004.1	+	3	1084	c.663A>T	c.(661-663)aaA>aaT	p.K221N	SERPINA4_ENST00000555095.1_Missense_Mutation_p.K221N|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.K221N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	221					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGTGGGAGAAACCATTCATTT	0.522																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(661-663)aaA>aaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							108.0	105.0	106.0					14																	95033320		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033320A>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.663A>T	14.37:g.95033320A>T	ENSP00000450838:p.Lys221Asn					SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.K221N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.K221N	p.K221N			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	1084	+			221					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.663A>T	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665885	0.47677	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84223	-1.82;-1.82;-1.82	4.44	-5.97	0.02227	Serpin domain (3);	0.097922	0.41823	N	0.000802	T	0.75148	0.3810	L	0.42529	1.33	0.80722	D	1	B;B	0.28026	0.198;0.149	B;B	0.33392	0.163;0.07	T	0.54536	-0.8279	10	0.33141	T	0.24	.	9.9509	0.41638	0.3155:0.1179:0.5665:0.0	.	221;221	B2R815;P29622	.;KAIN_HUMAN	N	221	ENSP00000450838:K221N;ENSP00000451172:K221N;ENSP00000298841:K221N	ENSP00000298841:K221N	K	+	3	2	SERPINA4	94103073	0.000000	0.05858	0.227000	0.23927	0.287000	0.27160	-2.253000	0.01184	-1.057000	0.03201	0.459000	0.35465	AAA		0.522	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		5	53	0	0	0	1	0	5	53				
CHD1	1105	broad.mit.edu	37	5	98209391	98209391	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98209391A>G	ENST00000284049.3	-	25	3626	c.3477T>C	c.(3475-3477)gaT>gaC	p.D1159D	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1159					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTCTGACTTATCAACTAACT	0.348																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3475-3477)gaT>gaC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						184.0	169.0	174.0					5																	98209391		2202	4299	6501	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98209391A>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3477T>C	5.37:g.98209391A>G							p.D1159D	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	25	3626	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1159					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.3477T>C	CCDS34204.1																																																																																				0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		29	43	0	0	0	1	0	29	43				
MOGAT3	346606	broad.mit.edu	37	7	100843729	100843729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100843729G>T	ENST00000223114.4	-	2	343	c.177C>A	c.(175-177)taC>taA	p.Y59*	MOGAT3_ENST00000379423.3_Nonsense_Mutation_p.Y59*|MOGAT3_ENST00000440203.2_Nonsense_Mutation_p.Y59*	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	59					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACACCAAGTAAAAAACAG	0.557																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(175-177)taC>taA		monoacylglycerol O-acyltransferase 3							81.0	83.0	82.0					7																	100843729		2203	4300	6503	SO:0001587	stop_gained	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100843729G>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.177C>A	7.37:g.100843729G>T	ENSP00000223114:p.Tyr59*					MOGAT3_ENST00000379423.3_Nonsense_Mutation_p.Y59*|MOGAT3_ENST00000440203.2_Nonsense_Mutation_p.Y59*	p.Y59*	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			2	343	-	Lung NSC(181;0.168)|all_lung(186;0.215)		59					Q496A6|Q496A7|Q496A8|Q9UDW7	Nonsense_Mutation	SNP	ENST00000223114.4	37	c.177C>A	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	27.7	4.850915	0.91277	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	.	.	.	4.25	-0.735	0.11137	.	0.075973	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8644	2.2539	0.04050	0.1751:0.2447:0.4413:0.1389	.	.	.	.	X	59	.	ENSP00000223114:Y59X	Y	-	3	2	MOGAT3	100630449	0.574000	0.26684	0.000000	0.03702	0.397000	0.30659	0.694000	0.25512	-0.382000	0.07870	0.643000	0.83706	TAC		0.557	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		6	11	1	0	3.59834e-05	1	4.01776e-05	6	11				
DAZAP1	26528	broad.mit.edu	37	19	1422373	1422373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1422373C>T	ENST00000233078.4	+	6	602	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DAZAP1_ENST00000336761.6_Silent_p.D147D|DAZAP1_ENST00000586579.1_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	147	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTATGACGCCGAGAAGC	0.612																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(439-441)gaC>gaT		DAZ associated protein 1							160.0	122.0	135.0					19																	1422373		2203	4300	6503	SO:0001819	synonymous_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1422373C>T		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.441C>T	19.37:g.1422373C>T						DAZAP1_ENST00000233078.4_Silent_p.D147D|DAZAP1_ENST00000586579.1_3'UTR	p.D147D	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	646	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	147			RRM 2.		Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	c.441C>T	CCDS12065.1																																																																																				0.612	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		39	72	0	0	0	1	0	39	72				
YARS	8565	broad.mit.edu	37	1	33246731	33246731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33246731C>T	ENST00000373477.4	-	10	1966	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	353					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTGGCAGGGCCTTTGGCCAT	0.512																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1057-1059)gGc>gAc		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						109.0	100.0	103.0					1																	33246731		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33246731C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1058G>A	1.37:g.33246731C>T	ENSP00000362576:p.Gly353Asp					YARS_ENST00000469100.1_5'UTR	p.G353D	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			10	1966	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	353					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1058G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732073	0.48939	.	.	ENSG00000134684	ENST00000373477	T	0.72505	-0.66	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	L	0.59436	1.845	0.58432	D	0.999999	B	0.24823	0.112	B	0.26416	0.069	T	0.59198	-0.7499	10	0.15499	T	0.54	-13.3896	13.6955	0.62578	0.1538:0.8462:0.0:0.0	.	353	P54577	SYYC_HUMAN	D	353	ENSP00000362576:G353D	ENSP00000362576:G353D	G	-	2	0	YARS	33019318	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.159000	0.42339	2.735000	0.93741	0.591000	0.81541	GGC		0.512	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		34	56	0	0	0	1	0	34	56				
FAM83H	286077	broad.mit.edu	37	8	144808666	144808666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808666C>T	ENST00000388913.3	-	5	3090	c.2965G>A	c.(2965-2967)Gtg>Atg	p.V989M		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	989					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGCGGCACTGGGAAGCCA	0.697																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(2965-2967)Gtg>Atg		family with sequence similarity 83, member H							11.0	14.0	13.0					8																	144808666		1969	4120	6089	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808666C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2965G>A	8.37:g.144808666C>T	ENSP00000373565:p.Val989Met						p.V989M	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3090	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		989					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.2965G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	7.442	0.640835	0.14386	.	.	ENSG00000180921	ENST00000388913	T	0.15487	2.42	4.91	2.0	0.26442	.	6.028330	0.00424	N	0.000073	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	P	0.35600	0.511	B	0.28232	0.087	T	0.17379	-1.0371	10	0.46703	T	0.11	.	4.5778	0.12243	0.0:0.4966:0.1555:0.3479	.	989	Q6ZRV2	FA83H_HUMAN	M	989	ENSP00000373565:V989M	ENSP00000373565:V989M	V	-	1	0	FAM83H	144880654	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.378000	0.07446	0.099000	0.17552	0.550000	0.68814	GTG		0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		5	10	0	0	0	1	0	5	10				
UBC	7316	broad.mit.edu	37	12	125398158	125398158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125398158G>A	ENST00000538617.1	-	3	476	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	UBC_ENST00000536661.1_5'UTR|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.R54C|UBC_ENST00000546120.1_Missense_Mutation_p.R54C|UBC_ENST00000536769.1_Missense_Mutation_p.R54C			P0CG48	UBC_HUMAN	ubiquitin C	434	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACAGGGTGCGCCCATCTTCC	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(160-162)Cgc>Tgc		ubiquitin C							215.0	197.0	203.0					12																	125398158		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398158G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.160C>T	12.37:g.125398158G>A	ENSP00000443053:p.Arg54Cys					UBC_ENST00000339647.5_Missense_Mutation_p.R54C|UBC_ENST00000546120.1_Missense_Mutation_p.R54C|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000538617.1_Missense_Mutation_p.R54C	p.R54C			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1736	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		54			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37	c.160C>T		.	.	.	.	.	.	.	.	.	.	-	15.44	2.834771	0.50951	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656;ENST00000541272;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859;ENST00000542416	T;T;T;T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.51	3.62	0.41486	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.44902	U	0.000403	T	0.70579	0.3240	M	0.67700	2.07	0.80722	D	1	B;B;B	0.18166	0.026;0.021;0.026	B;B;B	0.10450	0.002;0.002;0.005	T	0.69720	-0.5069	10	0.87932	D	0	.	10.6634	0.45714	0.0954:0.0:0.9046:0.0	.	143;54;54	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	C	54	ENSP00000441543:R54C;ENSP00000443053:R54C;ENSP00000344818:R54C;ENSP00000438394:R54C;ENSP00000440205:R54C;ENSP00000442800:R54C;ENSP00000445337:R54C;ENSP00000439492:R54C;ENSP00000438289:R54C;ENSP00000441238:R54C;ENSP00000437452:R54C;ENSP00000441556:R54C	ENSP00000344818:R54C	R	-	1	0	UBC	123964111	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	5.404000	0.66344	1.023000	0.39654	0.650000	0.86243	CGC		0.522	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		9	186	0	0	0	1	0	9	186				
ZFYVE19	84936	broad.mit.edu	37	15	41105049	41105049	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41105049C>A	ENST00000355341.4	+	7	1480	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	ZFYVE19_ENST00000336455.5_Missense_Mutation_p.L317M|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.L152M|ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.L304M	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	327					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAACGGATTCTGGCCCTGGC	0.622																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(979-981)Ctg>Atg		zinc finger, FYVE domain containing 19							63.0	73.0	70.0					15																	41105049		2072	4190	6262	SO:0001583	missense	84936						zinc ion binding	g.chr15:41105049C>A	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.979C>A	15.37:g.41105049C>A	ENSP00000347498:p.Leu327Met					ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.L317M|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.L152M|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.L304M	p.L327M	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	7	1480	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	327					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	ENST00000355341.4	37	c.979C>A	CCDS42025.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516485	0.64634	.	.	ENSG00000166140	ENST00000355341;ENST00000336455	T;T	0.39787	1.06;1.06	5.41	5.41	0.78517	.	0.135250	0.50627	D	0.000117	T	0.61337	0.2339	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.952	T	0.61700	-0.7009	10	0.48119	T	0.1	-12.6072	11.4697	0.50261	0.0:0.9163:0.0:0.0837	.	317;327	Q96K21-2;Q96K21	.;ZFY19_HUMAN	M	327;317	ENSP00000347498:L327M;ENSP00000337824:L317M	ENSP00000337824:L317M	L	+	1	2	ZFYVE19	38892341	1.000000	0.71417	0.969000	0.41365	0.549000	0.35272	3.802000	0.55553	2.534000	0.85438	0.555000	0.69702	CTG		0.622	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		16	45	1	0	3.41278e-10	1	4.19267e-10	16	45				
PMS2CL	441194	broad.mit.edu	37	7	6777542	6777542	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6777542G>A	ENST00000486256.1	+	0	1669					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		TCAAGCAGCCGAAGATGAACT	0.299																																						ENST00000486256.1																			0																																																			0							g.chr7:6777542G>A	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6777542G>A								NR_002217.1						0	1669	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.299	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		19	71	0	0	0	1	0	19	71				
CORIN	10699	broad.mit.edu	37	4	47645223	47645223	+	Missense_Mutation	SNP	G	G	A	rs202243396		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47645223G>A	ENST00000273857.4	-	15	2007	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	CORIN_ENST00000508498.1_Missense_Mutation_p.R531C|CORIN_ENST00000504584.1_Missense_Mutation_p.R633C|CORIN_ENST00000505909.1_Missense_Mutation_p.R633C|CORIN_ENST00000502252.1_Missense_Mutation_p.R603C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	670	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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						CACAGGTCACGTGACACACAC	0.453																																						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.(2008-2010)Cgt>Tgt		corin, serine peptidase							208.0	155.0	173.0					4																	47645223		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.chr4:47645223G>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.2008C>T	4.37:g.47645223G>A	ENSP00000273857:p.Arg670Cys					CORIN_ENST00000508498.1_Missense_Mutation_p.R531C|CORIN_ENST00000504584.1_Missense_Mutation_p.R633C|CORIN_ENST00000502252.1_Missense_Mutation_p.R603C|CORIN_ENST00000505909.1_Missense_Mutation_p.R633C	p.R670C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			15	2007	-			670			LDL-receptor class A 7.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2008C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184774	0.57909	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78	6.17	5.33	0.75918	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.253651	0.40302	N	0.001123	D	0.98254	0.9422	M	0.93720	3.45	0.49299	D	0.999777	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.938;0.994;1.0	D	0.98959	1.0797	10	0.56958	D	0.05	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	633;603;670	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	C	670;531;603;633;633	ENSP00000273857:R670C;ENSP00000425597:R531C;ENSP00000424212:R603C;ENSP00000425401:R633C;ENSP00000423216:R633C	ENSP00000273857:R670C	R	-	1	0	CORIN	47339980	1.000000	0.71417	0.005000	0.12908	0.007000	0.05969	5.253000	0.65452	1.620000	0.50308	0.655000	0.94253	CGT		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			6	64	0	0	0	1	0	6	64				
SLC6A12	6539	broad.mit.edu	37	12	306028	306028	+	Missense_Mutation	SNP	C	C	T	rs151111165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:306028C>T	ENST00000428720.1	-	11	1839	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	SLC6A12_ENST00000397296.2_Missense_Mutation_p.A366T|SLC6A12_ENST00000538272.1_5'Flank|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000359674.4_Missense_Mutation_p.A366T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A366T|SLC6A12_ENST00000424061.2_Missense_Mutation_p.A366T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	366					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGGGGAAGGCGATGAAGGCC	0.582																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(1096-1098)Gcc>Acc		solute carrier family 6 (neurotransmitter transporter), member 12		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	101.0	91.0	95.0		1096,1096,1096,1096	4.3	1.0	12	dbSNP_134	95	0,8600		0,0,4300	yes	missense,missense,missense,missense	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	58,58,58,58	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	366/615,366/615,366/615,366/615	306028	4,13002	2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:306028C>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1096G>A	12.37:g.306028C>T	ENSP00000388184:p.Ala366Thr					SLC6A12_ENST00000359674.4_Missense_Mutation_p.A366T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A366T|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A366T|SLC6A12_ENST00000424061.2_Missense_Mutation_p.A366T	p.A366T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		11	1839	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		366					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.1096G>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099014	0.94197	9.08E-4	0.0	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.87560	0.2471	10	0.87932	D	0	.	16.8701	0.86038	0.0:1.0:0.0:0.0	.	366	P48065	S6A12_HUMAN	T	366	ENSP00000352702:A366T;ENSP00000380464:A366T;ENSP00000388184:A366T;ENSP00000399136:A366T;ENSP00000444268:A366T	ENSP00000352702:A366T	A	-	1	0	SLC6A12	176289	1.000000	0.71417	0.984000	0.44739	0.893000	0.52053	7.556000	0.82233	2.194000	0.70268	0.478000	0.44815	GCC		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		7	42	0	0	0	1	0	7	42				
STAP2	55620	broad.mit.edu	37	19	4332028	4332028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4332028C>T	ENST00000594605.1	-	4	468	c.345G>A	c.(343-345)acG>acA	p.T115T	STAP2_ENST00000600324.1_Silent_p.T115T	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	115	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCACCACCGTTAAGATGA	0.453																																						ENST00000600324.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23						c.(343-345)acG>acA		signal transducing adaptor family member 2							123.0	104.0	110.0					19																	4332028		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4332028C>T	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.345G>A	19.37:g.4332028C>T						STAP2_ENST00000594605.1_Silent_p.T115T	p.T115T	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	4	412	-		Hepatocellular(1079;0.137)	115			PH.		A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.345G>A	CCDS45926.1																																																																																				0.453	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		13	35	0	0	0	1	0	13	35				
ECT2L	345930	broad.mit.edu	37	6	139222212	139222212	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139222212G>T	ENST00000423192.1	+	20	2703	c.2542G>T	c.(2542-2544)Gtg>Ttg	p.V848L	ECT2L_ENST00000541398.1_Missense_Mutation_p.V702L|ECT2L_ENST00000367682.2_Missense_Mutation_p.V848L			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	848							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CATTGCATCAGTGGCCCTTCA	0.408			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2542-2544)Gtg>Ttg		epithelial cell transforming sequence 2 oncogene-like							166.0	153.0	157.0					6																	139222212		1880	4122	6002	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139222212G>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2542G>T	6.37:g.139222212G>T	ENSP00000387388:p.Val848Leu					ECT2L_ENST00000541398.1_Missense_Mutation_p.V702L|ECT2L_ENST00000367682.2_Missense_Mutation_p.V848L	p.V848L			Q008S8	ECT2L_HUMAN			20	2703	+			848					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2542G>T	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500835	0.26861	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.74737	-0.87;-0.87;-0.87	5.5	3.48	0.39840	Pleckstrin homology-type (1);	0.159647	0.24031	U	0.042192	T	0.50888	0.1642	M	0.69823	2.125	0.19775	N	0.999953	B;B	0.26602	0.154;0.056	B;B	0.26864	0.074;0.034	T	0.42515	-0.9447	10	0.24483	T	0.36	-5.5467	8.0132	0.30365	0.2221:0.0:0.7779:0.0	.	702;848	F5H7S9;Q008S8	.;ECT2L_HUMAN	L	848;848;702	ENSP00000387388:V848L;ENSP00000356655:V848L;ENSP00000442307:V702L	ENSP00000356655:V848L	V	+	1	0	ECT2L	139263905	0.940000	0.31905	0.914000	0.36105	0.283000	0.27025	1.449000	0.35123	0.511000	0.28236	-0.225000	0.12378	GTG		0.408	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		7	86	1	0	3.09899e-07	1	3.63227e-07	7	86				
MYOM2	9172	broad.mit.edu	37	8	2007344	2007344	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2007344G>A	ENST00000262113.4	+	6	772	c.631G>A	c.(631-633)Gta>Ata	p.V211I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	211	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAACTATGGCGTACACACACT	0.502																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(631-633)Gta>Ata		myomesin 2							117.0	104.0	108.0					8																	2007344		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2007344G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.631G>A	8.37:g.2007344G>A	ENSP00000262113:p.Val211Ile					MYOM2_ENST00000523438.1_Intron	p.V211I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	6	772	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	211			Ig-like C2-type 1.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.631G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076712	0.55753	.	.	ENSG00000036448	ENST00000262113	T	0.65549	-0.16	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.078719	0.51477	D	0.000100	T	0.61048	0.2316	L	0.31294	0.92	0.80722	D	1	D	0.69078	0.997	P	0.50082	0.63	T	0.63111	-0.6710	10	0.45353	T	0.12	.	18.3566	0.90359	0.0:0.0:1.0:0.0	.	211	P54296	MYOM2_HUMAN	I	211	ENSP00000262113:V211I	ENSP00000262113:V211I	V	+	1	0	MYOM2	1994751	1.000000	0.71417	0.939000	0.37840	0.122000	0.20287	8.028000	0.88798	2.423000	0.82170	0.591000	0.81541	GTA		0.502	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		19	19	0	0	0	1	0	19	19				
AP2A1	160	broad.mit.edu	37	19	50309177	50309177	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309177C>T	ENST00000359032.5	+	22	2700	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	AP2A1_ENST00000354293.5_Silent_p.D878D	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	900					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCCCATGGACGCAGAAGTTA	0.592																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(2632-2634)gaC>gaT		adaptor-related protein complex 2, alpha 1 subunit							70.0	74.0	73.0					19																	50309177		1910	4118	6028	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50309177C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2700C>T	19.37:g.50309177C>T						AP2A1_ENST00000359032.5_Silent_p.D900D	p.D878D	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	21	2800	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	900					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.2634C>T	CCDS46148.1																																																																																				0.592	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			4	62	0	0	0	1	0	4	62				
MATN4	8785	broad.mit.edu	37	20	43933260	43933260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43933260C>A	ENST00000372754.1	-	2	259	c.251G>T	c.(250-252)aGc>aTc	p.S84I	RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.S84I|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000353917.5_Missense_Mutation_p.S84I|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.S84I|MATN4_ENST00000360607.6_Missense_Mutation_p.S84I|MATN4_ENST00000342716.4_Missense_Mutation_p.S84I|RBPJL_ENST00000343694.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	84	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGGAAGACGCTCTGCACTTG	0.652																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(250-252)aGc>aTc		matrilin 4							38.0	35.0	36.0					20																	43933260		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933260C>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.251G>T	20.37:g.43933260C>A	ENSP00000361840:p.Ser84Ile					MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.S84I|MATN4_ENST00000372754.1_Missense_Mutation_p.S84I|MATN4_ENST00000353917.5_Missense_Mutation_p.S84I|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000360607.5_Missense_Mutation_p.S84I|MATN4_ENST00000372756.1_Missense_Mutation_p.S84I	p.S84I			O95460	MATN4_HUMAN			4	495	-		Myeloproliferative disorder(115;0.0122)	84			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.251G>T		.	.	.	.	.	.	.	.	.	.	C	14.17	2.454410	0.43634	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.34	4.34	0.51931	.	0.138031	0.34178	N	0.004194	T	0.68613	0.3020	N	0.11284	0.12	0.80722	D	1	P;D;P	0.62365	0.772;0.991;0.696	B;P;B	0.58928	0.444;0.848;0.358	T	0.67688	-0.5606	10	0.36615	T	0.2	.	5.5368	0.17016	0.0:0.6822:0.2067:0.1111	.	84;84;84	A6NNA4;O95460-4;O95460-2	.;.;.	I	84	ENSP00000361840:S84I;ENSP00000361842:S84I;ENSP00000243983:S84I;ENSP00000353819:S84I;ENSP00000343164:S84I;ENSP00000440328:S84I	ENSP00000255132:S84I	S	-	2	0	MATN4	43366674	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.772000	0.47678	2.243000	0.73865	0.462000	0.41574	AGC		0.652	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			8	26	1	0	1.12685e-05	1	1.27857e-05	8	26				
CUBN	8029	broad.mit.edu	37	10	16942837	16942837	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16942837C>T	ENST00000377833.4	-	53	8262	c.8197G>A	c.(8197-8199)Gac>Aac	p.D2733N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2733	CUB 20. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATATCAAAGTCACTAAATGTG	0.403																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8197-8199)Gac>Aac		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						61.0	54.0	57.0					10																	16942837		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16942837C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8197G>A	10.37:g.16942837C>T	ENSP00000367064:p.Asp2733Asn						p.D2733N	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			53	8262	-			2733			CUB 20.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8197G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201581	0.22121	.	.	ENSG00000107611	ENST00000377833	T	0.19394	2.15	5.69	1.21	0.21127	CUB (5);	0.658397	0.13354	N	0.394179	T	0.14313	0.0346	L	0.43598	1.365	0.21355	N	0.999714	B	0.06786	0.001	B	0.12156	0.007	T	0.27706	-1.0066	10	0.25751	T	0.34	.	3.3492	0.07146	0.1437:0.5596:0.1007:0.196	.	2733	O60494	CUBN_HUMAN	N	2733	ENSP00000367064:D2733N	ENSP00000367064:D2733N	D	-	1	0	CUBN	16982843	0.419000	0.25449	0.201000	0.23476	0.213000	0.24496	0.858000	0.27845	0.444000	0.26612	-0.137000	0.14449	GAC		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	15	0	0	0	1	0	6	15				
PLCL1	5334	broad.mit.edu	37	2	198950953	198950953	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198950953G>A	ENST00000428675.1	+	2	3110	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	PLCL1_ENST00000437704.2_Missense_Mutation_p.M806I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	904					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGAAAATATGCAGGTAGGAG	0.353																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2710-2712)atG>atA		phospholipase C-like 1	Quinacrine(DB01103)						50.0	48.0	49.0					2																	198950953		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950953G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2712G>A	2.37:g.198950953G>A	ENSP00000402861:p.Met904Ile					PLCL1_ENST00000437704.2_Missense_Mutation_p.M806I	p.M904I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	3110	+			904					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2712G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543056	0.27563	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.16073	2.37;2.4	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.54323	1.7	0.53688	D	0.999977	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.02411	-1.1163	9	.	.	.	.	13.6329	0.62206	0.0735:0.0:0.9265:0.0	.	904;830	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	904;806	ENSP00000402861:M904I;ENSP00000414138:M806I	.	M	+	3	0	PLCL1	198659198	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.813000	0.86123	2.814000	0.96858	0.591000	0.81541	ATG		0.353	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		4	29	0	0	0	1	0	4	29				
FOLH1	2346	broad.mit.edu	37	11	49207246	49207246	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207246A>G	ENST00000256999.2	-	6	1061	c.801T>C	c.(799-801)ccT>ccC	p.P267P	FOLH1_ENST00000533034.1_Silent_p.P252P|FOLH1_ENST00000356696.3_Silent_p.P267P|FOLH1_ENST00000340334.7_Silent_p.P252P|FOLH1_ENST00000343844.4_Intron	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	267					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CTGGTGTGAGAGGGTCTCCTG	0.423																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(754-756)ccT>ccC		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						55.0	56.0	56.0					11																	49207246		2201	4298	6499	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207246A>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.801T>C	11.37:g.49207246A>G						FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Silent_p.P267P|FOLH1_ENST00000256999.2_Silent_p.P267P|FOLH1_ENST00000533034.1_Silent_p.P252P	p.P252P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			7	1124	-			267					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.756T>C	CCDS7946.1																																																																																				0.423	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		9	40	0	0	0	1	0	9	40				
RPLP0P6	220717	broad.mit.edu	37	2	38709079	38709079	+	lincRNA	SNP	C	C	T	rs111340107		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38709079C>T	ENST00000417039.1	-	0	696																											AATGTTTCATCGTGGGAGCAG	0.537																																						ENST00000417039.1																			0																																																			0							g.chr2:38709079C>T																													2.37:g.38709079C>T														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.537	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			11	17	0	0	0	1	0	11	17				
WIPF1	7456	broad.mit.edu	37	2	175431873	175431873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175431873C>T	ENST00000392547.2	-	7	1480	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	WIPF1_ENST00000392546.2_Missense_Mutation_p.D461N|WIPF1_ENST00000359761.3_Missense_Mutation_p.D461N|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.D461N|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000409891.1_Missense_Mutation_p.D461N|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	461					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.D461N(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCAAATCGGAAATCGGA	0.443																																						ENST00000392547.2																			1	Substitution - Missense(1)	p.D461N(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(1381-1383)Gat>Aat		WAS/WASL interacting protein family, member 1							136.0	135.0	136.0					2																	175431873		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175431873C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1381G>A	2.37:g.175431873C>T	ENSP00000376330:p.Asp461Asn					WIPF1_ENST00000272746.5_Missense_Mutation_p.D461N|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000409891.1_Missense_Mutation_p.D461N|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.D461N|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.D461N	p.D461N	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			7	1480	-			461					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.1381G>A	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240436	0.95240	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891	T;T;T;T;T	0.63096	0.62;0.67;0.62;0.62;-0.02	6.03	6.03	0.97812	.	0.045937	0.85682	D	0.000000	T	0.81959	0.4933	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.966;0.926	T	0.82820	-0.0268	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	461;461;461	O43516-3;O43516-2;O43516	.;.;WIPF1_HUMAN	N	461;317;461;461;461;461	ENSP00000376330:D461N;ENSP00000272746:D461N;ENSP00000352802:D461N;ENSP00000376329:D461N;ENSP00000386431:D461N	ENSP00000272746:D461N	D	-	1	0	WIPF1	175140119	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.262000	0.72514	2.854000	0.98071	0.655000	0.94253	GAT		0.443	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		14	34	0	0	0	1	0	14	34				
CCDC146	57639	broad.mit.edu	37	7	76912054	76912054	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76912054G>A	ENST00000285871.4	+	15	2227	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC146_ENST00000431197.1_Silent_p.L414L|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	700										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAATTACTGCCAGCCAAGA	0.433																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(2098-2100)ctG>ctA		coiled-coil domain containing 146							70.0	68.0	69.0					7																	76912054		2203	4300	6503	SO:0001819	synonymous_variant	57639							g.chr7:76912054G>A	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2100G>A	7.37:g.76912054G>A						CCDC146_ENST00000431197.1_Silent_p.L414L|CCDC146_ENST00000415740.2_3'UTR	p.L700L	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			15	2227	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	700					A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	c.2100G>A	CCDS34671.1																																																																																				0.433	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		8	63	0	0	0	1	0	8	63				
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4877927C>T	ENST00000298375.7	+	4	456	c.385C>T	c.(385-387)Cga>Tga	p.R129*	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.R129*	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.R129*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			1	Substitution - Nonsense(1)	p.R129*(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(385-387)Cga>Tga		aldo-keto reductase family 1, member E2							117.0	89.0	99.0					10																	4877927		2203	4300	6503	SO:0001587	stop_gained	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4877927C>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.385C>T	10.37:g.4877927C>T	ENSP00000298375:p.Arg129*					AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000525281.1_3'UTR	p.R129*	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			4	456	+			129					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Nonsense_Mutation	SNP	ENST00000298375.7	37	c.385C>T	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399049	0.62177	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	.	.	.	4.12	2.29	0.28610	.	0.054940	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	6.141	0.20259	0.1016:0.1905:0.708:0.0	.	.	.	.	X	25;133;129;129;129;129	.	ENSP00000298375:R129X	R	+	1	2	AKR1E2	4867927	1.000000	0.71417	0.093000	0.20910	0.011000	0.07611	3.968000	0.56809	0.705000	0.31890	-0.949000	0.02662	CGA		0.527	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		22	21	0	0	0	1	0	22	21				
CTTNBP2NL	55917	broad.mit.edu	37	1	112998752	112998752	+	Missense_Mutation	SNP	G	G	A	rs200217404		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112998752G>A	ENST00000271277.6	+	6	863	c.638G>A	c.(637-639)cGg>cAg	p.R213Q		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	213					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAAGAGCCGGGTGAGTAAA	0.517																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(637-639)cGg>cAg		CTTNBP2 N-terminal like							82.0	89.0	87.0					1																	112998752		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112998752G>A	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.638G>A	1.37:g.112998752G>A	ENSP00000271277:p.Arg213Gln						p.R213Q	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	863	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	213					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.638G>A	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028199	0.54790	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.63744	-0.06;0.88	6.07	5.15	0.70609	.	0.283072	0.38058	N	0.001826	T	0.43700	0.1259	M	0.73598	2.24	0.40572	D	0.98131	B	0.14012	0.009	B	0.06405	0.002	T	0.48822	-0.9001	10	0.34782	T	0.22	-12.6867	8.4495	0.32862	0.1007:0.0:0.7516:0.1477	.	213	Q9P2B4	CT2NL_HUMAN	Q	213	ENSP00000271277:R213Q;ENSP00000390976:R213Q	ENSP00000271277:R213Q	R	+	2	0	CTTNBP2NL	112800275	1.000000	0.71417	0.949000	0.38748	0.477000	0.33069	4.307000	0.59123	1.565000	0.49641	0.655000	0.94253	CGG		0.517	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		12	52	0	0	0	1	0	12	52				
PPFIBP2	8495	broad.mit.edu	37	11	7670067	7670067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7670067C>T	ENST00000299492.4	+	19	2222	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L500F|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L454F|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L469F	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	612	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGAAGAAGCTTGTTTTAGC	0.428																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1834-1836)Ctt>Ttt		PTPRF interacting protein, binding protein 2 (liprin beta 2)							164.0	171.0	169.0					11																	7670067		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7670067C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1834C>T	11.37:g.7670067C>T	ENSP00000299492:p.Leu612Phe					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L469F|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L454F|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L500F	p.L612F	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	19	2222	+			612			SAM 1.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1834C>T	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235567	0.79800	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.03	5.02	0.67125	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000031	T	0.73946	0.3652	M	0.89478	3.035	0.58432	D	0.999994	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	1.0;1.0;1.0;1.0;1.0;1.0	T	0.77376	-0.2611	10	0.87932	D	0	-11.5532	9.7546	0.40496	0.0:0.879:0.0:0.121	.	500;500;535;454;469;612	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	F	612;454;535;500;469	ENSP00000299492:L612F;ENSP00000436498:L454F;ENSP00000435469:L500F;ENSP00000437321:L469F	ENSP00000299492:L612F	L	+	1	0	PPFIBP2	7626643	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.050000	0.49877	2.861000	0.98227	0.655000	0.94253	CTT		0.428	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		78	106	0	0	0	1	0	78	106				
MUC16	94025	broad.mit.edu	37	19	9066603	9066603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066603G>A	ENST00000397910.4	-	3	21046	c.20843C>T	c.(20842-20844)tCc>tTc	p.S6948F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6950	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6948F(2)|p.S2581F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGTCAAGGAATATGTTGA	0.448																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.S6948F(2)|p.S2581F(1)	skin(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20842-20844)tCc>tTc		mucin 16, cell surface associated							180.0	173.0	175.0					19																	9066603		1942	4154	6096	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066603G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20843C>T	19.37:g.9066603G>A	ENSP00000381008:p.Ser6948Phe						p.S6948F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21046	-			6950			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20843C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.185	-0.386658	0.04966	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.77	-1.03	0.10102	.	.	.	.	.	T	0.03434	0.0099	L	0.59436	1.845	.	.	.	B	0.12013	0.005	B	0.17979	0.02	T	0.35599	-0.9782	8	0.87932	D	0	.	3.1692	0.06546	0.2143:0.0:0.5807:0.205	.	6948	B5ME49	.	F	6948	ENSP00000381008:S6948F	ENSP00000381008:S6948F	S	-	2	0	MUC16	8927603	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.180000	0.09754	-0.089000	0.12484	-2.096000	0.00365	TCC		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		66	121	0	0	0	1	0	66	121				
ZNF676	163223	broad.mit.edu	37	19	22363485	22363485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22363485G>A	ENST00000397121.2	-	3	1351	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCGATTAAAAGCTTTCCCGCA	0.413																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1033-1035)gCt>gTt		zinc finger protein 676							82.0	89.0	86.0					19																	22363485		2180	4284	6464	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363485G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1034C>T	19.37:g.22363485G>A	ENSP00000380310:p.Ala345Val						p.A345V	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1351	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	345					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1034C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	2.478	-0.320297	0.05386	.	.	ENSG00000196109	ENST00000397121	T	0.36340	1.26	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21841	0.0526	N	0.11201	0.11	0.09310	N	1	P	0.52692	0.955	P	0.51657	0.676	T	0.06935	-1.0799	9	0.48119	T	0.1	.	0.1787	0.00121	0.3658:0.2163:0.202:0.2159	.	345	Q8N7Q3	ZN676_HUMAN	V	345	ENSP00000380310:A345V	ENSP00000380310:A345V	A	-	2	0	ZNF676	22155325	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.528000	0.02225	-1.094000	0.03054	-1.080000	0.02220	GCT		0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		10	71	0	0	0	1	0	10	71				
CHL1	10752	broad.mit.edu	37	3	419608	419608	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:419608C>A	ENST00000256509.2	+	16	2501	c.1859C>A	c.(1858-1860)aCt>aAt	p.T620N	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.T604N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	406					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCGATATAACTCAAGTAACT	0.373																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1858-1860)aCt>aAt		cell adhesion molecule L1-like							109.0	103.0	105.0					3																	419608		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:419608C>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1859C>A	3.37:g.419608C>A	ENSP00000256509:p.Thr620Asn					CHL1_ENST00000397491.2_Missense_Mutation_p.T604N|CHL1-AS1_ENST00000417612.1_RNA	p.T620N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	16	2501	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	604			Fibronectin type-III 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1859C>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274628	0.59649	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12984	2.63;2.63	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.175604	0.50627	D	0.000108	T	0.27134	0.0665	L	0.52206	1.635	0.09310	N	1	P;P;D	0.54207	0.929;0.929;0.965	P;P;P	0.58391	0.675;0.675;0.838	T	0.05419	-1.0886	10	0.87932	D	0	.	13.0704	0.59057	0.0:0.9267:0.0:0.0733	.	604;604;620	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	620;604	ENSP00000256509:T620N;ENSP00000380628:T604N	ENSP00000256509:T620N	T	+	2	0	CHL1	394608	0.032000	0.19561	0.097000	0.21041	0.087000	0.18053	2.875000	0.48491	2.695000	0.91970	0.655000	0.94253	ACT		0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		4	73	1	0	0.00198382	1	0.00210581	4	73				
C2orf78	388960	broad.mit.edu	37	2	74041293	74041293	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74041293T>A	ENST00000409561.1	+	2	908	c.787T>A	c.(787-789)Tct>Act	p.S263T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	263										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACCACCAGTCTCTACTTCTGG	0.463																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(787-789)Tct>Act		chromosome 2 open reading frame 78							94.0	97.0	96.0					2																	74041293		2041	4185	6226	SO:0001583	missense	388960							g.chr2:74041293T>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.787T>A	2.37:g.74041293T>A	ENSP00000387124:p.Ser263Thr						p.S263T	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			2	908	+			263						Missense_Mutation	SNP	ENST00000409561.1	37	c.787T>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905282	0.33628	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	4.32	0.51571	.	0.000000	0.31188	U	0.008082	T	0.57344	0.2047	M	0.78049	2.395	0.23542	N	0.997458	D	0.65815	0.995	P	0.59703	0.862	T	0.52939	-0.8508	9	0.59425	D	0.04	-7.3551	8.3675	0.32395	0.0:0.0893:0.0:0.9107	.	263	A6NCI8	CB078_HUMAN	T	263	.	ENSP00000340692:S263T	S	+	1	0	C2orf78	73894801	0.021000	0.18746	0.450000	0.26969	0.005000	0.04900	1.387000	0.34430	1.033000	0.39918	0.533000	0.62120	TCT		0.463	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		15	102	0	0	0	1	0	15	102				
PRDM10	56980	broad.mit.edu	37	11	129800970	129800970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129800970C>T	ENST00000360871.3	-	11	1702	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	PRDM10_ENST00000528746.1_Missense_Mutation_p.V465M|PRDM10_ENST00000304538.6_Missense_Mutation_p.V405M|PRDM10_ENST00000358825.5_Missense_Mutation_p.V491M|PRDM10_ENST00000526082.1_Missense_Mutation_p.V405M|PRDM10_ENST00000423662.2_Missense_Mutation_p.V405M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGGGCACCACGCTCTCTTCA	0.617																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1471-1473)Gtg>Atg		PR domain containing 10							159.0	146.0	151.0					11																	129800970		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129800970C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1471G>A	11.37:g.129800970C>T	ENSP00000354118:p.Val491Met					PRDM10_ENST00000304538.6_Missense_Mutation_p.V405M|PRDM10_ENST00000360871.3_Missense_Mutation_p.V491M|PRDM10_ENST00000526082.1_Missense_Mutation_p.V405M|PRDM10_ENST00000423662.2_Missense_Mutation_p.V405M|PRDM10_ENST00000528746.1_Missense_Mutation_p.V465M	p.V491M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	11	1702	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	491					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1471G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	5.200	0.222467	0.09863	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10382	2.91;2.88;2.9;2.89;2.93;2.89;2.98	4.97	-2.21	0.06973	.	0.752485	0.12892	N	0.430506	T	0.06096	0.0158	N	0.19112	0.55	0.09310	N	1	B;P;P;P;B;D;P	0.59767	0.095;0.895;0.769;0.832;0.001;0.986;0.567	B;B;B;B;B;P;B	0.44696	0.019;0.115;0.086;0.084;0.002;0.458;0.216	T	0.27226	-1.0080	10	0.56958	D	0.05	-3.9717	2.636	0.04958	0.1083:0.4636:0.111:0.3171	.	405;491;491;491;405;405;405	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	M	491;405;491;405;465;405;208	ENSP00000351686:V491M;ENSP00000302669:V405M;ENSP00000354118:V491M;ENSP00000398431:V405M;ENSP00000431262:V465M;ENSP00000432237:V405M;ENSP00000435940:V208M	ENSP00000302669:V405M	V	-	1	0	PRDM10	129306180	0.000000	0.05858	0.002000	0.10522	0.171000	0.22731	-1.394000	0.02518	-0.256000	0.09473	-1.084000	0.02203	GTG		0.617	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		27	43	0	0	0	1	0	27	43				
PABPC1	26986	broad.mit.edu	37	8	101724636	101724636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724636C>T	ENST00000318607.5	-	7	2054	c.926G>A	c.(925-927)cGt>cAt	p.R309H	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.R264H|PABPC1_ENST00000522387.1_Missense_Mutation_p.R277H	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	309	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTCCGGAGACGTTCATCATC	0.318																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(925-927)cGt>cAt		poly(A) binding protein, cytoplasmic 1							149.0	158.0	155.0					8																	101724636		2203	4298	6501	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724636C>T	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.926G>A	8.37:g.101724636C>T	ENSP00000313007:p.Arg309His					PABPC1_ENST00000519004.1_Missense_Mutation_p.R264H|PABPC1_ENST00000522387.1_Missense_Mutation_p.R277H|PABPC1_ENST00000519596.1_5'UTR	p.R309H	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		7	2054	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		309			RRM 4.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.926G>A	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.529385|3.529385	0.64860|0.64860	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	T;T;T|.	0.15952|.	2.38;2.38;2.38|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.64402|.	D|.	0.000012|.	T|T	0.50820|0.50820	0.1638|0.1638	N|N	0.11845|0.11845	0.185|0.185	0.80722|0.80722	D|D	1|1	B;P;P|.	0.43094|.	0.208;0.799;0.799|.	B;B;B|.	0.38985|.	0.117;0.287;0.209|.	T|T	0.43048|0.43048	-0.9415|-0.9415	10|5	0.62326|.	D|.	0.03|.	.|.	20.0919|20.0919	0.97823|0.97823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	277;309;309|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	H|I	309;309;264;277|178	ENSP00000313007:R309H;ENSP00000429594:R264H;ENSP00000429395:R277H|.	ENSP00000313007:R309H|.	R|V	-|-	2|1	0|0	PABPC1|PABPC1	101793812|101793812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.918000|4.918000	0.63376|0.63376	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.318	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		86	162	0	0	0	1	0	86	162				
PBLD	64081	broad.mit.edu	37	10	70056658	70056658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70056658C>A	ENST00000358769.2	-	3	371	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	PBLD_ENST00000432941.1_Missense_Mutation_p.D57Y|PBLD_ENST00000495025.2_Missense_Mutation_p.D57Y|PBLD_ENST00000309049.4_Missense_Mutation_p.D57Y|PBLD_ENST00000336578.1_Missense_Mutation_p.D24Y	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	57					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCAAAGTTGTCTGTCGGGTGC	0.413																																						ENST00000358769.2																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(169-171)Gac>Tac		phenazine biosynthesis-like protein domain containing							167.0	160.0	162.0					10																	70056658		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70056658C>A	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.169G>T	10.37:g.70056658C>A	ENSP00000351619:p.Asp57Tyr					PBLD_ENST00000432941.1_Missense_Mutation_p.D57Y|PBLD_ENST00000336578.1_Missense_Mutation_p.D24Y|PBLD_ENST00000309049.4_Missense_Mutation_p.D57Y|PBLD_ENST00000277795.4_Missense_Mutation_p.D57Y	p.D57Y	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN			3	371	-			57					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.169G>T	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049766	0.75846	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941;ENST00000277795	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.51	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.85462	2.755	0.80722	D	1	D;P;D	0.76494	0.999;0.843;0.976	D;P;P	0.66497	0.944;0.77;0.907	T	0.67726	-0.5596	10	0.59425	D	0.04	-23.4754	16.7747	0.85548	0.0:1.0:0.0:0.0	.	57;57;57	F8W7D0;C9JIM0;P30039	.;.;PBLD_HUMAN	Y	24;57;57;57;57	ENSP00000338041:D24Y;ENSP00000351619:D57Y;ENSP00000308466:D57Y;ENSP00000395534:D57Y;ENSP00000277795:D57Y	ENSP00000277795:D57Y	D	-	1	0	PBLD	69726664	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.266000	0.58871	2.687000	0.91594	0.655000	0.94253	GAC		0.413	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		8	137	1	0	5.4927e-09	1	6.6252e-09	8	137				
ZNF512B	57473	broad.mit.edu	37	20	62591493	62591493	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62591493C>A	ENST00000450537.1	-	17	2488		c.e17-1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAACCAGTTCTGGGGAGAGA	0.542																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.e17-1		zinc finger protein 512B							75.0	82.0	80.0					20																	62591493		2202	4299	6501	SO:0001630	splice_region_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62591493C>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2428-1G>T	20.37:g.62591493C>A						ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site				Q96KM6	Z512B_HUMAN			17	2488	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)							Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	37		CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616473	0.46736	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4317	0.83847	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF512B	62061937	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.424000	0.59868	2.312000	0.78011	0.313000	0.20887	.		0.542	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	Intron	13	21	1	0	0.000151284	1	0.000166931	13	21				
FAM114A1	92689	broad.mit.edu	37	4	38930892	38930892	+	Missense_Mutation	SNP	C	C	T	rs199734440	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38930892C>T	ENST00000358869.2	+	10	1275	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	FAM114A1_ENST00000515037.1_Missense_Mutation_p.R160C	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	367			R -> H (in dbSNP:rs2306923).			cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAATTTGCTCGCATGCTTAC	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		20292	0.002		0.0	False		,,,				2504	0.0					ENST00000358869.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1099-1101)Cgc>Tgc		family with sequence similarity 114, member A1							92.0	92.0	92.0					4																	38930892		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38930892C>T		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1099C>T	4.37:g.38930892C>T	ENSP00000351740:p.Arg367Cys					FAM114A1_ENST00000515037.1_Missense_Mutation_p.R160C	p.R367C	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN			10	1275	+			367		R -> H (in dbSNP:rs2306923).			A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.1099C>T	CCDS3447.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.07	3.020004	0.54576	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.23754	1.89;2.88	5.42	-0.0567	0.13804	.	0.298595	0.50627	D	0.000114	T	0.18045	0.0433	L	0.43152	1.355	0.35393	D	0.790961	P;D	0.53151	0.698;0.958	B;B	0.34722	0.132;0.188	T	0.34601	-0.9822	10	0.72032	D	0.01	1.7141	14.5527	0.68078	0.4927:0.5073:0.0:0.0	.	160;367	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	C	160;367;160	ENSP00000424115:R160C;ENSP00000351740:R367C	ENSP00000347569:R160C	R	+	1	0	FAM114A1	38607287	0.982000	0.34865	0.968000	0.41197	0.971000	0.66376	2.699000	0.47077	-0.107000	0.12088	-0.500000	0.04577	CGC		0.413	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		36	33	0	0	0	1	0	36	33				
C11orf45	219833	broad.mit.edu	37	11	128774420	128774420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128774420C>T	ENST00000524878.1	-	2	212	c.42G>A	c.(40-42)acG>acA	p.T14T	C11orf45_ENST00000530168.1_5'Flank|KCNJ5_ENST00000338350.4_Intron|KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000310799.3_Silent_p.T14T			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	14						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gcggagaGGTCGtgctactca	0.582																																						ENST00000310799.3																			0				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7						c.(40-42)acG>acA		chromosome 11 open reading frame 45							112.0	90.0	97.0					11																	128774420		2201	4297	6498	SO:0001819	synonymous_variant	219833					extracellular region		g.chr11:128774420C>T	AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.42G>A	11.37:g.128774420C>T						KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.T14T|KCNJ5_ENST00000338350.4_Intron	p.T14T	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)	2	235	-	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	14					B2RAD0	Silent	SNP	ENST00000524878.1	37	c.42G>A	CCDS8478.1																																																																																				0.582	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386243.1	NM_145013		37	30	0	0	0	1	0	37	30				
IER3	8870	broad.mit.edu	37	6	30711721	30711721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30711721C>T	ENST00000259874.5	-	2	498	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	FLOT1_ENST00000456573.2_5'Flank|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000376389.3_5'Flank|IER3_ENST00000376377.2_3'UTR|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	155					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						AGTTAGAAGGCGGCCGGGTGT	0.592																																						ENST00000259874.5																			0				NS(1)	1						c.(463-465)Gcc>Acc		immediate early response 3							64.0	71.0	68.0					6																	30711721		2203	4299	6502	SO:0001583	missense	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30711721C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.463G>A	6.37:g.30711721C>T	ENSP00000259874:p.Ala155Thr					IER3_ENST00000376377.2_3'UTR	p.A155T	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN			2	498	-			155					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.463G>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407782	0.83340	.	.	ENSG00000137331	ENST00000259874;ENST00000376382	T	0.51574	0.7	4.92	4.92	0.64577	.	.	.	.	.	T	0.45677	0.1354	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54111	-0.8342	9	0.87932	D	0	.	13.7095	0.62659	0.0:1.0:0.0:0.0	.	155	P46695	IEX1_HUMAN	T	155;191	ENSP00000259874:A155T	ENSP00000259874:A155T	A	-	1	0	IER3	30819700	0.820000	0.29190	0.978000	0.43139	0.608000	0.37181	1.355000	0.34068	2.289000	0.77006	0.456000	0.33151	GCC		0.592	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			14	32	0	0	0	1	0	14	32				
TMCC2	9911	broad.mit.edu	37	1	205240997	205240997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205240997G>A	ENST00000358024.3	+	5	2264	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q	TMCC2_ENST00000330675.7_Silent_p.Q400Q|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.Q547Q|TMCC2_ENST00000329800.7_Silent_p.Q385Q	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	625						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAGCAACAGCAGCAGGTGG	0.662																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1873-1875)caG>caA		transmembrane and coiled-coil domain family 2							82.0	79.0	80.0					1																	205240997		2203	4300	6503	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205240997G>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1875G>A	1.37:g.205240997G>A						TMCC2_ENST00000329800.7_Silent_p.Q385Q|TMCC2_ENST00000330675.7_Silent_p.Q400Q|TMCC2_ENST00000545499.1_Silent_p.Q547Q|TMCC2_ENST00000495538.1_3'UTR	p.Q625Q	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	2264	+	Breast(84;0.0871)		625					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.1875G>A	CCDS30984.1																																																																																				0.662	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		33	28	0	0	0	1	0	33	28				
C11orf85	283129	broad.mit.edu	37	11	64708114	64708114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64708114C>A	ENST00000301896.5	-	9	551	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	C11orf85_ENST00000536065.1_Missense_Mutation_p.R75M|C11orf85_ENST00000432175.1_Missense_Mutation_p.G160W|C11orf85_ENST00000530444.1_Missense_Mutation_p.R103M	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	160										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTTCTTTCCCTATTCTGTTA	0.408																																						ENST00000536065.1																			0				breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						c.(223-225)aGg>aTg		chromosome 11 open reading frame 85							129.0	114.0	119.0					11																	64708114		2201	4297	6498	SO:0001583	missense	283129							g.chr11:64708114C>A	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.478G>T	11.37:g.64708114C>A	ENSP00000301896:p.Gly160Trp					C11orf85_ENST00000432175.1_Missense_Mutation_p.G160W|C11orf85_ENST00000301896.5_Missense_Mutation_p.G160W|C11orf85_ENST00000530444.1_Missense_Mutation_p.R103M	p.R75M			Q3KP22	CK085_HUMAN			10	1528	-			41					B3KS99	Missense_Mutation	SNP	ENST00000301896.5	37	c.224G>T	CCDS31603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.585793|1.585793	0.28268|0.28268	.|.	.|.	ENSG00000168070|ENSG00000168070	ENST00000301896;ENST00000432175|ENST00000532617;ENST00000530444;ENST00000536065	.|.	.|.	.|.	4.91|4.91	0.896|0.896	0.19253|0.19253	.|.	1.454220|.	0.04178|.	N|.	0.326053|.	T|T	0.38878|0.38878	0.1057|0.1057	L|L	0.36672|0.36672	1.1|1.1	0.22754|0.22754	N|N	0.998777|0.998777	D|D	0.65815|0.60160	0.995|0.987	P|P	0.61477|0.57548	0.889|0.823	T|T	0.16867|0.16867	-1.0388|-1.0388	9|8	0.62326|0.52906	D|T	0.03|0.07	-14.7675|-14.7675	6.6377|6.6377	0.22891|0.22891	0.0:0.6051:0.0:0.3949|0.0:0.6051:0.0:0.3949	.|.	160|103	Q3KP22|E9PPE5	CK085_HUMAN|.	W|M	160|2;103;75	.|.	ENSP00000301896:G160W|ENSP00000434568:R103M	G|R	-|-	1|2	0|0	C11orf85|C11orf85	64464690|64464690	0.000000|0.000000	0.05858|0.05858	0.969000|0.969000	0.41365|0.41365	0.044000|0.044000	0.14063|0.14063	-1.529000|-1.529000	0.02223|0.02223	0.313000|0.313000	0.23062|0.23062	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.408	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385477.1	NM_001037225		6	80	1	0	0.00198382	1	0.00210581	6	80				
CRISP1	167	broad.mit.edu	37	6	49819840	49819840	+	Missense_Mutation	SNP	C	C	A	rs138699394		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49819840C>A	ENST00000335847.4	-	3	170	c.69G>T	c.(67-69)aaG>aaT	p.K23N	CRISP1_ENST00000355791.2_Missense_Mutation_p.K23N|CRISP1_ENST00000507853.1_Missense_Mutation_p.K23N|CRISP1_ENST00000329411.5_Missense_Mutation_p.K23N|CRISP1_ENST00000505118.1_Missense_Mutation_p.K23N|CRISP1_ENST00000536021.1_Missense_Mutation_p.K23N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	23					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.0					ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(67-69)aaG>aaT		cysteine-rich secretory protein 1		C	ASN/LYS,ASN/LYS,ASN/LYS	0,4406		0,0,2203	136.0	138.0	137.0		69,69,69	-3.1	0.0	6	dbSNP_134	137	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense	CRISP1	NM_001131.2,NM_001205220.1,NM_170609.1	94,94,94	0,9,6494	AA,AC,CC		0.1047,0.0,0.0692	benign,benign,benign	23/250,23/250,23/179	49819840	9,12997	2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49819840C>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.69G>T	6.37:g.49819840C>A	ENSP00000338276:p.Lys23Asn					CRISP1_ENST00000507853.1_Missense_Mutation_p.K23N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K23N|CRISP1_ENST00000505118.1_Missense_Mutation_p.K23N|CRISP1_ENST00000329411.5_Missense_Mutation_p.K23N|CRISP1_ENST00000536021.1_Missense_Mutation_p.K23N	p.K23N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			3	170	-	Lung NSC(77;0.0358)		23					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.69G>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	6.368	0.436070	0.12104	0.0	0.001047	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	4.84	-3.13	0.05266	CAP domain (2);	2.627310	0.02274	N	0.068755	T	0.01222	0.0040	N	0.11427	0.14	0.09310	N	1	B;B	0.19817	0.039;0.023	B;B	0.18561	0.022;0.016	T	0.42481	-0.9449	9	.	.	.	.	0.8576	0.01186	0.2837:0.1023:0.3127:0.3013	.	23;23	P54107-2;P54107	.;CRIS1_HUMAN	N	23	ENSP00000425020:K23N;ENSP00000338276:K23N;ENSP00000348044:K23N;ENSP00000331317:K23N;ENSP00000427589:K23N;ENSP00000441798:K23N	.	K	-	3	2	CRISP1	49927799	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.240000	0.08952	-0.255000	0.09486	-0.471000	0.05019	AAG		0.333	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		25	52	1	0	2.79863e-10	1	3.44159e-10	25	52				
ALDH3A1	218	broad.mit.edu	37	17	19645413	19645413	+	Missense_Mutation	SNP	G	G	A	rs139173953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645413G>A	ENST00000457500.2	-	4	922	c.593C>T	c.(592-594)aCg>aTg	p.T198M	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.T198M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.T198M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.T198M|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.T125M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	198					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GGCAGCAGCCGTCATGATGAT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20007	0.001		0.0	False		,,,				2504	0.0					ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(592-594)aCg>aTg		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						161.0	110.0	127.0					17																	19645413		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19645413G>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.593C>T	17.37:g.19645413G>A	ENSP00000411821:p.Thr198Met					ALDH3A1_ENST00000395555.3_Missense_Mutation_p.T198M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.T198M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.T198M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.T125M	p.T198M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	4	922	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		198					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.593C>T	CCDS11212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.66	2.003758	0.35320	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	T;T;T;T;T;D	0.85339	-1.04;-1.04;-1.04;-1.04;-1.04;-1.97	4.49	2.2	0.27929	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.477187	0.23349	N	0.049150	T	0.77322	0.4113	L	0.41492	1.28	0.27385	N	0.955311	B;P;B	0.52463	0.078;0.953;0.078	B;B;B	0.40228	0.034;0.323;0.034	T	0.69250	-0.5194	10	0.51188	T	0.08	.	11.4194	0.49971	0.1035:0.0:0.8965:0.0	.	198;315;198	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	198;198;256;198;198;125;198;198	ENSP00000225740:T198M;ENSP00000378923:T198M;ENSP00000388469:T198M;ENSP00000411821:T198M;ENSP00000389766:T198M;ENSP00000388369:T198M	ENSP00000225740:T198M	T	-	2	0	ALDH3A1	19586005	0.635000	0.27199	0.759000	0.31340	0.939000	0.58152	0.955000	0.29188	0.183000	0.20059	0.462000	0.41574	ACG		0.607	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		13	27	0	0	0	1	0	13	27				
MRPL1	65008	broad.mit.edu	37	4	78804490	78804490	+	Missense_Mutation	SNP	G	G	A	rs138407676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78804490G>A	ENST00000315567.8	+	3	567	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	80					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CTATATGGAAGGCGAACCTGA	0.328																																						ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(238-240)Ggc>Agc		mitochondrial ribosomal protein L1							80.0	80.0	80.0					4																	78804490		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78804490G>A	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.238G>A	4.37:g.78804490G>A	ENSP00000315017:p.Gly80Ser					MRPL1_ENST00000506674.1_3'UTR	p.G80S	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			3	567	+			80					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.238G>A	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.874|6.874	0.530660|0.530660	0.13127|0.13127	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000502384	T|.	0.39787|.	1.06|.	6.14|6.14	2.4|2.4	0.29515|0.29515	Ribosomal protein L1, chordata (1);|.	0.363098|.	0.34628|.	N|.	0.003802|.	T|T	0.26412|0.26412	0.0645|0.0645	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	1|1	B;B|.	0.18461|.	0.028;0.028|.	B;B|.	0.15052|.	0.012;0.012|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.13853|.	T|.	0.58|.	-3.3141|-3.3141	4.7476|4.7476	0.13045|0.13045	0.3145:0.0:0.5474:0.1381|0.3145:0.0:0.5474:0.1381	.|.	58;80|.	A0PJ79;Q9BYD6|.	.;RM01_HUMAN|.	S|K	80;58|33	ENSP00000315017:G80S|.	ENSP00000315017:G80S|.	G|R	+|+	1|2	0|0	MRPL1|MRPL1	79023514|79023514	0.997000|0.997000	0.39634|0.39634	0.250000|0.250000	0.24296|0.24296	0.595000|0.595000	0.36748|0.36748	1.031000|1.031000	0.30165|0.30165	0.141000|0.141000	0.18875|0.18875	0.650000|0.650000	0.86243|0.86243	GGC|AGG		0.328	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		19	31	0	0	0	1	0	19	31				
RAPGEF6	51735	broad.mit.edu	37	5	130769276	130769276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130769276C>A	ENST00000509018.1	-	25	4026	c.3821G>T	c.(3820-3822)aGc>aTc	p.S1274I	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1282I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1282I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1287I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1324I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1274	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTCACGATGCTGGACCGTGA	0.483																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3820-3822)aGc>aTc		Rap guanine nucleotide exchange factor (GEF) 6							143.0	125.0	131.0					5																	130769276		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130769276C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3821G>T	5.37:g.130769276C>A	ENSP00000421684:p.Ser1274Ile					RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1287I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1282I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1282I|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1324I	p.S1274I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	25	4026	-			1274			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3821G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051817	0.93793	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.41065	1.11;1.01;1.02;1.11;1.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	T	0.69250	-0.5194	10	0.87932	D	0	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1282;1282;1324;1287;1274	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	I	1274;1287;1282;1282;1287;1324	ENSP00000421684:S1274I;ENSP00000309298:S1287I;ENSP00000426081:S1282I;ENSP00000296859:S1282I;ENSP00000426948:S1324I	ENSP00000426948:S1324I	S	-	2	0	RAPGEF6;FNIP1	130797175	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.965000	0.76067	2.755000	0.94549	0.650000	0.86243	AGC		0.483	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		15	29	1	0	1.3612e-06	1	1.57881e-06	15	29				
SMC2	10592	broad.mit.edu	37	9	106880543	106880543	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106880543T>G	ENST00000286398.7	+	15	2171	c.1883T>G	c.(1882-1884)tTt>tGt	p.F628C	SMC2_ENST00000303219.8_Missense_Mutation_p.F628C|SMC2_ENST00000374787.3_Missense_Mutation_p.F628C|SMC2_ENST00000374793.3_Missense_Mutation_p.F628C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	628	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACAACATTTGTTTGTGAC	0.418																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1882-1884)tTt>tGt		structural maintenance of chromosomes 2							149.0	138.0	142.0					9																	106880543		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106880543T>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1883T>G	9.37:g.106880543T>G	ENSP00000286398:p.Phe628Cys					SMC2_ENST00000374793.3_Missense_Mutation_p.F628C|SMC2_ENST00000303219.8_Missense_Mutation_p.F628C|SMC2_ENST00000374787.3_Missense_Mutation_p.F628C	p.F628C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			15	2171	+			628			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1883T>G	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946243	0.73672	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.98	4.98	0.66077	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.198222	0.45126	D	0.000382	D	0.92509	0.7621	M	0.76574	2.34	0.39736	D	0.971681	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.98	D	0.93850	0.7144	10	0.87932	D	0	-6.6191	13.6622	0.62374	0.0:0.0:0.0:1.0	.	628;628	O95347;Q2KQ72	SMC2_HUMAN;.	C	628	ENSP00000286398:F628C;ENSP00000363925:F628C;ENSP00000306152:F628C;ENSP00000363919:F628C	ENSP00000286398:F628C	F	+	2	0	SMC2	105920364	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.466000	0.80914	2.100000	0.63781	0.482000	0.46254	TTT		0.418	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			9	92	0	0	0	1	0	9	92				
MFSD9	84804	broad.mit.edu	37	2	103335385	103335385	+	Missense_Mutation	SNP	C	C	T	rs34240435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103335385C>T	ENST00000258436.5	-	6	962	c.919G>A	c.(919-921)Gtc>Atc	p.V307I	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	307					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGGGCCAGGACAAAGTTACTG	0.577																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(919-921)Gtc>Atc		major facilitator superfamily domain containing 9							58.0	51.0	53.0					2																	103335385		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335385C>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.919G>A	2.37:g.103335385C>T	ENSP00000258436:p.Val307Ile						p.V307I	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			6	962	-			307					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.919G>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344950	0.61073	.	.	ENSG00000135953	ENST00000258436	T	0.57595	0.39	4.81	3.93	0.45458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372576	0.29300	N	0.012554	T	0.52224	0.1721	M	0.69823	2.125	0.24696	N	0.993289	P	0.46578	0.88	P	0.45071	0.468	T	0.44651	-0.9314	10	0.21014	T	0.42	-7.9026	10.1929	0.43037	0.0:0.8223:0.0:0.1777	.	307	Q8NBP5	MFSD9_HUMAN	I	307	ENSP00000258436:V307I	ENSP00000258436:V307I	V	-	1	0	MFSD9	102701817	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	2.375000	0.44283	1.148000	0.42385	0.644000	0.83932	GTC		0.577	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		5	38	0	0	0	1	0	5	38				
TTN	7273	broad.mit.edu	37	2	179650454	179650454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179650454C>A	ENST00000591111.1	-	15	2610	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	TTN_ENST00000460472.2_Missense_Mutation_p.D750Y|TTN_ENST00000359218.5_Missense_Mutation_p.D750Y|TTN_ENST00000342992.6_Missense_Mutation_p.D796Y|TTN_ENST00000589042.1_Missense_Mutation_p.D796Y|TTN_ENST00000342175.6_Missense_Mutation_p.D750Y|TTN_ENST00000360870.5_Missense_Mutation_p.D796Y			Q8WZ42	TITIN_HUMAN	titin	33630					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D750N(3)|p.D796N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTTAGATCTGTAGTTTTC	0.418																																						ENST00000589042.1																			5	Substitution - Missense(5)	p.D750N(3)|p.D796N(2)	large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2386-2388)Gat>Tat		titin							229.0	219.0	222.0					2																	179650454		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650454C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2386G>T	2.37:g.179650454C>A	ENSP00000465570:p.Asp796Tyr					TTN_ENST00000460472.2_Missense_Mutation_p.D750Y|TTN_ENST00000360870.5_Missense_Mutation_p.D796Y|TTN_ENST00000342992.6_Missense_Mutation_p.D796Y|TTN_ENST00000359218.5_Missense_Mutation_p.D750Y|TTN_ENST00000342175.6_Missense_Mutation_p.D750Y|TTN_ENST00000591111.1_Missense_Mutation_p.D796Y	p.D796Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	2610	-			796					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2386G>T		.	.	.	.	.	.	.	.	.	.	C	13.77	2.337024	0.41398	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64991	-0.13;0.11;0.1;0.09;0.16	5.51	5.51	0.81932	Ribonuclease H-like (1);	.	.	.	.	T	0.70081	0.3183	N	0.24115	0.695	0.35066	D	0.762062	D;D;D;D;D	0.89917	0.989;0.989;0.989;0.971;1.0	P;P;P;P;D	0.72338	0.726;0.726;0.726;0.641;0.977	T	0.77675	-0.2499	9	0.87932	D	0	.	19.7837	0.96428	0.0:1.0:0.0:0.0	.	750;750;750;796;796	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	796;750;750;750;750;796	ENSP00000343764:D796Y;ENSP00000434586:D750Y;ENSP00000340554:D750Y;ENSP00000352154:D750Y;ENSP00000354117:D796Y	ENSP00000340554:D750Y	D	-	1	0	TTN	179358699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.126000	0.71635	2.738000	0.93877	0.655000	0.94253	GAT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	63	1	0	0.00307968	1	0.00325696	7	63				
TRPV3	162514	broad.mit.edu	37	17	3427532	3427532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3427532C>T	ENST00000576742.1	-	13	2024	c.1703G>A	c.(1702-1704)gGt>gAt	p.G568D	TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000301365.4_Missense_Mutation_p.G568D	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	568					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGACTGGAAACCCCGCGTATA	0.587																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1702-1704)gGt>gAt		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						147.0	138.0	141.0					17																	3427532		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3427532C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1703G>A	17.37:g.3427532C>T	ENSP00000461518:p.Gly568Asp					TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000576742.1_Missense_Mutation_p.G568D	p.G568D			Q8NET8	TRPV3_HUMAN			13	1834	-			568					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1703G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632416	0.87660	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.90620	-2.7	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.95749	0.8617	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0;0.999;0.999	D	0.96247	0.9180	10	0.87932	D	0	-13.4347	17.7887	0.88546	0.0:1.0:0.0:0.0	.	552;552;568;552;568;568;568	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	D	568;568;552	ENSP00000301365:G568D	ENSP00000301365:G568D	G	-	2	0	TRPV3	3374282	1.000000	0.71417	0.973000	0.42090	0.739000	0.42172	7.410000	0.80065	2.634000	0.89283	0.563000	0.77884	GGT		0.587	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		53	94	0	0	0	1	0	53	94				
SLC4A8	9498	broad.mit.edu	37	12	51853776	51853776	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51853776G>T	ENST00000453097.2	+	8	1114	c.897G>T	c.(895-897)gaG>gaT	p.E299D	SLC4A8_ENST00000394856.1_Missense_Mutation_p.E246D|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E246D|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E246D|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E326D	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGGCCGAGGCCTCCAATG	0.458																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(895-897)gaG>gaT		solute carrier family 4, sodium bicarbonate cotransporter, member 8							180.0	181.0	181.0					12																	51853776		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51853776G>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.897G>T	12.37:g.51853776G>T	ENSP00000405812:p.Glu299Asp					SLC4A8_ENST00000514353.3_Missense_Mutation_p.E246D|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E326D|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E246D|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E246D	p.E299D	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	8	1114	+			299						Missense_Mutation	SNP	ENST00000453097.2	37	c.897G>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411423	0.83340	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.53	4.43	0.53597	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.045183	0.85682	D	0.000000	D	0.92156	0.7513	H	0.96460	3.825	0.58432	D	0.999999	D;D;D;D;D;D;P	0.89917	0.997;1.0;0.999;0.999;0.999;0.999;0.808	D;D;D;D;D;D;B	0.87578	0.992;0.995;0.986;0.998;0.996;0.996;0.399	D	0.91867	0.5504	10	0.87932	D	0	.	5.0026	0.14271	0.2732:0.0:0.7268:0.0	.	246;326;246;299;299;299;246	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	D	246;326;299;246;299;246;246;246	ENSP00000441520:E246D;ENSP00000351483:E326D;ENSP00000405812:E299D;ENSP00000378325:E246D;ENSP00000442561:E246D	ENSP00000315789:E299D	E	+	3	2	SLC4A8	50140043	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.432000	0.59922	2.772000	0.95346	0.591000	0.81541	GAG		0.458	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		20	169	1	0	2.39187e-15	1	3.06793e-15	20	169				
DPH2	1802	broad.mit.edu	37	1	44437630	44437630	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44437630T>C	ENST00000255108.3	+	4	1228	c.1056T>C	c.(1054-1056)ggT>ggC	p.G352G	DPH2_ENST00000412950.2_Silent_p.G217G|ATP6V0B_ENST00000471859.2_5'Flank|ATP6V0B_ENST00000236067.4_5'Flank|DPH2_ENST00000396758.2_Intron|ATP6V0B_ENST00000532642.1_5'Flank|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	352					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGCTTTCTGGTAGCTTCTTCC	0.607																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(1054-1056)ggT>ggC		DPH2 homolog (S. cerevisiae)							77.0	73.0	74.0					1																	44437630		2203	4300	6503	SO:0001819	synonymous_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437630T>C	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1056T>C	1.37:g.44437630T>C						DPH2_ENST00000412950.2_Silent_p.G217G|DPH2_ENST00000396758.2_Intron	p.G352G	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN			4	1228	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	352					A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	c.1056T>C	CCDS504.1																																																																																				0.607	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		8	64	0	0	0	1	0	8	64				
ARHGAP26	23092	broad.mit.edu	37	5	142500708	142500708	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142500708A>G	ENST00000274498.4	+	18	2072	c.1694A>G	c.(1693-1695)gAa>gGa	p.E565G	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.E565G	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	565	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAACCACGAAAAGGTAATA	0.423																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1693-1695)gAa>gGa		Rho GTPase activating protein 26							95.0	88.0	90.0					5																	142500708		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142500708A>G	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1694A>G	5.37:g.142500708A>G	ENSP00000274498:p.Glu565Gly					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E565G	p.E565G	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2049	+		all_hematologic(541;0.0416)	565			Rho-GAP.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1694A>G	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.73|18.73	3.685719|3.685719	0.68157|0.68157	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.23552|.	1.9;1.9|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.101035|.	0.64402|.	D|.	0.000003|.	T|T	0.73505|0.73505	0.3595|0.3595	M|M	0.70787|0.70787	2.145|2.145	0.80722|0.80722	D|D	1|1	P;B;B|.	0.49447|.	0.924;0.088;0.043|.	P;B;B|.	0.59056|.	0.851;0.078;0.16|.	T|T	0.73936|0.73936	-0.3825|-0.3825	10|5	0.45353|.	T|.	0.12|.	.|.	15.4219|15.4219	0.75018|0.75018	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	565;138;565|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	G|E	565;565;138|184;137	ENSP00000274498:E565G;ENSP00000367243:E565G|.	ENSP00000274498:E565G|.	E|K	+|+	2|1	0|0	ARHGAP26|ARHGAP26	142480901|142480901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	8.962000|8.962000	0.93254|0.93254	2.036000|2.036000	0.60181|0.60181	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.423	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		7	34	0	0	0	1	0	7	34				
ENGASE	64772	broad.mit.edu	37	17	77082252	77082252	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77082252A>G	ENST00000579016.1	+	14	2053	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	685						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGAGATGCCCATGTTCCTGGG	0.617																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(2053-2055)Atg>Gtg		endo-beta-N-acetylglucosaminidase							48.0	57.0	54.0					17																	77082252		2057	4198	6255	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77082252A>G	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.2053A>G	17.37:g.77082252A>G	ENSP00000462333:p.Met685Val						p.M685V	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			14	2053	+			685					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.2053A>G	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	0.418	-0.909704	0.02434	.	.	ENSG00000167280	ENST00000545583	.	.	.	4.06	0.378	0.16204	.	1.675520	0.02719	N	0.113790	T	0.14442	0.0349	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.12066	-1.0562	9	0.11794	T	0.64	-11.8841	1.151	0.01786	0.3735:0.1708:0.3098:0.1458	.	685	Q8NFI3	ENASE_HUMAN	V	685	.	ENSP00000438577:M685V	M	+	1	0	ENGASE	74593847	0.000000	0.05858	0.061000	0.19648	0.533000	0.34776	-0.270000	0.08584	-0.145000	0.11294	0.383000	0.25322	ATG		0.617	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		22	35	0	0	0	1	0	22	35				
PIP5K1C	23396	broad.mit.edu	37	19	3643317	3643317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3643317C>T	ENST00000335312.3	-	13	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A525T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	525					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGAGTCGTGGCAATGGAGGCT	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1573-1575)Gcc>Acc		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							152.0	135.0	140.0					19																	3643317		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3643317C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1573G>A	19.37:g.3643317C>T	ENSP00000335333:p.Ala525Thr					PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A525T	p.A525T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	13	1661	-		Hepatocellular(1079;0.137)	525					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.1573G>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069259	0.55539	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.35236	1.38;1.4;1.32	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	T	0.32763	0.0840	L	0.46741	1.465	0.48696	D	0.99969	P;B	0.38395	0.629;0.38	B;B	0.37422	0.249;0.11	T	0.10177	-1.0641	10	0.25751	T	0.34	-24.2369	15.5449	0.76090	0.0:1.0:0.0:0.0	.	525;525	O60331-3;O60331	.;PI51C_HUMAN	T	525	ENSP00000335333:A525T;ENSP00000445992:A525T;ENSP00000444779:A525T	ENSP00000335333:A525T	A	-	1	0	PIP5K1C	3594317	1.000000	0.71417	0.991000	0.47740	0.409000	0.31022	7.406000	0.80017	1.889000	0.54706	0.573000	0.79308	GCC		0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		32	48	0	0	0	1	0	32	48				
LGALS9C	654346	broad.mit.edu	37	17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562																																						ENST00000328114.6																			0				NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						c.(109-111)Gtt>Att		lectin, galactoside-binding, soluble, 9C							178.0	120.0	141.0					17																	18387258		2133	3742	5875	SO:0001583	missense	654346						sugar binding	g.chr17:18387258G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.109G>A	17.37:g.18387258G>A	ENSP00000329932:p.Val37Ile					LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I	p.V37I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN			2	190	+			37			Galectin 1.		B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.109G>A	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	6.966	0.548264	0.13312	.	.	ENSG00000171916	ENST00000328114	T	0.14516	2.5	2.77	-2.66	0.06077	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.332246	0.26891	N	0.021980	T	0.11067	0.0270	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.35073	0.195	T	0.30446	-0.9978	10	0.46703	T	0.11	.	6.8506	0.24012	0.4472:0.0:0.5528:0.0	.	37	Q6DKI2	LEG9C_HUMAN	I	37	ENSP00000329932:V37I	ENSP00000329932:V37I	V	+	1	0	LGALS9C	18327983	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.527000	0.06200	-0.631000	0.05560	0.184000	0.17185	GTT		0.562	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		41	9	0	0	0	1	0	41	9				
MLYCD	23417	broad.mit.edu	37	16	83948953	83948953	+	Silent	SNP	C	C	A	rs571879180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948953C>A	ENST00000262430.4	+	5	1360	c.1341C>A	c.(1339-1341)tcC>tcA	p.S447S	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	447	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCACCGGCTCCTGCGGCCTGA	0.632																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1339-1341)tcC>tcA		malonyl-CoA decarboxylase							46.0	52.0	50.0					16																	83948953		2076	4190	6266	SO:0001819	synonymous_variant	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948953C>A	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1341C>A	16.37:g.83948953C>A						RP11-505K9.4_ENST00000561562.1_RNA	p.S447S	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			5	1360	+			447					Q9UNU5|Q9Y3F2	Silent	SNP	ENST00000262430.4	37	c.1341C>A	CCDS42206.1																																																																																				0.632	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		9	66	1	0	7.48243e-07	1	8.70085e-07	9	66				
ALG6	29929	broad.mit.edu	37	1	63872050	63872050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63872050G>T	ENST00000371108.4	+	6	714	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E137*	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	137					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGCTTAAAAGAAATCTCAAC	0.328																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(409-411)Gaa>Taa		ALG6, alpha-1,3-glucosyltransferase							153.0	141.0	145.0					1																	63872050		2203	4300	6503	SO:0001587	stop_gained	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63872050G>T	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.409G>T	1.37:g.63872050G>T	ENSP00000360149:p.Glu137*					ALG6_ENST00000263440.4_Nonsense_Mutation_p.E137*	p.E137*	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			6	714	+			137					B3KMU2|Q5SXR9|Q9H3I0	Nonsense_Mutation	SNP	ENST00000371108.4	37	c.409G>T	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862255	0.91511	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	.	.	.	5.87	5.87	0.94306	.	0.190975	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-6.1834	20.2245	0.98337	0.0:0.0:1.0:0.0	.	.	.	.	X	137	.	ENSP00000263440:E137X	E	+	1	0	ALG6	63644638	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	4.366000	0.59492	2.770000	0.95276	0.650000	0.86243	GAA		0.328	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		8	69	1	0	0.00621372	1	0.00652201	8	69				
UGP2	7360	broad.mit.edu	37	2	64114548	64114548	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64114548G>T	ENST00000337130.5	+	8	1560	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	UGP2_ENST00000445915.2_Missense_Mutation_p.G371C|UGP2_ENST00000394417.2_Missense_Mutation_p.G351C|UGP2_ENST00000467648.2_Missense_Mutation_p.G351C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	362					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGATGGAGGCCTGAATGT	0.413																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(1084-1086)Ggc>Tgc		UDP-glucose pyrophosphorylase 2							59.0	61.0	61.0					2																	64114548		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64114548G>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1084G>T	2.37:g.64114548G>T	ENSP00000338703:p.Gly362Cys					UGP2_ENST00000445915.2_Missense_Mutation_p.G371C|UGP2_ENST00000394417.2_Missense_Mutation_p.G351C|UGP2_ENST00000467648.2_Missense_Mutation_p.G351C	p.G362C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			8	1560	+			362					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.1084G>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822035	0.90873	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.55081	0.1898	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65393	-0.6179	10	0.87932	D	0	-20.5378	19.9023	0.96990	0.0:0.0:1.0:0.0	.	371;362	E7EUC7;Q16851	.;UGPA_HUMAN	C	351;351;362;371	ENSP00000377939:G351C;ENSP00000420793:G351C;ENSP00000338703:G362C;ENSP00000411803:G371C	ENSP00000338703:G362C	G	+	1	0	UGP2	63968052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.693000	0.91896	0.650000	0.86243	GGC		0.413	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		8	84	1	0	1.06961e-07	1	1.26574e-07	8	84				
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2389-2391)ggC>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							63.0	61.0	62.0					12																	31255888		2203	4300	6503	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255888C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2391C>T	12.37:g.31255888C>T		Multiple Myeloma(12;0.14)				DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000350437.4_Silent_p.G747G	p.G797G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			24	2642	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		797					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.2391C>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965738	0.18583	.	.	ENSG00000013573	ENST00000539702	.	.	.	3.29	2.36	0.29203	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.4916	0.16779	0.2209:0.541:0.2381:0.0	.	.	.	.	V	63	.	.	A	+	2	0	DDX11	31147155	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.767000	0.26575	0.538000	0.28769	0.505000	0.49811	GCA		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		4	33	0	0	0	1	0	4	33				
ITPR3	3710	broad.mit.edu	37	6	33655082	33655082	+	Missense_Mutation	SNP	A	A	G	rs373691310	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33655082A>G	ENST00000374316.5	+	46	7215	c.6155A>G	c.(6154-6156)aAc>aGc	p.N2052S	ITPR3_ENST00000605930.1_Missense_Mutation_p.N2052S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2052					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GTGGGCCATAACATCTATATC	0.622													A|||	2	0.000399361	0.0015	0.0	5008	,	,		14638	0.0		0.0	False		,,,				2504	0.0					ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6154-6156)aAc>aGc		inositol 1,4,5-trisphosphate receptor, type 3		A	SER/ASN	2,4404	4.2+/-10.8	0,2,2201	63.0	53.0	56.0		6155	4.7	1.0	6		56	0,8600		0,0,4300	no	missense	ITPR3	NM_002224.3	46	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging	2052/2672	33655082	2,13004	2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33655082A>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6155A>G	6.37:g.33655082A>G	ENSP00000363435:p.Asn2052Ser					ITPR3_ENST00000605930.1_Missense_Mutation_p.N2052S	p.N2052S			Q14573	ITPR3_HUMAN			46	7215	+			2052					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6155A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310361	0.81358	4.54E-4	0.0	ENSG00000096433	ENST00000374316	D	0.92752	-3.1	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.93419	0.7901	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.97	D	0.92862	0.6306	10	0.38643	T	0.18	-46.331	14.4245	0.67204	1.0:0.0:0.0:0.0	.	2052;1722	Q14573;Q59ES2	ITPR3_HUMAN;.	S	2052	ENSP00000363435:N2052S	ENSP00000363435:N2052S	N	+	2	0	ITPR3	33763060	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.204000	0.95041	1.868000	0.54150	0.459000	0.35465	AAC		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	14	0	0	0	1	0	7	14				
HACE1	57531	broad.mit.edu	37	6	105291136	105291136	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105291136C>T	ENST00000262903.4	-	5	640	c.364G>A	c.(364-366)Gct>Act	p.A122T	HACE1_ENST00000369125.2_Missense_Mutation_p.A122T|RP11-809N15.2_ENST00000422930.2_RNA	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	122					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTGACATCAGCGCTATATTCT	0.279																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(364-366)Gct>Act		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							130.0	146.0	141.0					6																	105291136		2202	4298	6500	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105291136C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.364G>A	6.37:g.105291136C>T	ENSP00000262903:p.Ala122Thr					RP11-809N15.2_ENST00000422930.1_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.A122T	p.A122T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	5	640	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	122					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.364G>A	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	35	5.562471	0.96527	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.76709	-0.56;-0.56;-1.04;-0.56	5.92	5.92	0.95590	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.88406	0.3018	10	0.66056	D	0.02	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	122;122	E9PGP0;Q8IYU2	.;HACE1_HUMAN	T	122;122;122;88	ENSP00000262903:A122T;ENSP00000358121:A122T;ENSP00000429765:A122T;ENSP00000427901:A88T	ENSP00000262903:A122T	A	-	1	0	HACE1	105397829	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.290000	0.78711	2.801000	0.96364	0.650000	0.86243	GCT		0.279	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		32	98	0	0	0	1	0	32	98				
PCDHB18	54660	broad.mit.edu	37	5	140615604	140615604	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140615604C>T	ENST00000526308.1	+	0	1667					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTGCTGCCGCCCCAGGACCCG	0.657																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615604C>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615604C>T								NR_001281.1						0	1667	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.657	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			38	70	0	0	0	1	0	38	70				
STOML1	9399	broad.mit.edu	37	15	74280984	74280984	+	Missense_Mutation	SNP	G	G	A	rs114483410		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74280984G>A	ENST00000316900.5	-	4	674	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	STOML1_ENST00000561656.1_Missense_Mutation_p.R97W|STOML1_ENST00000541638.1_Missense_Mutation_p.R142W|STOML1_ENST00000564777.1_Missense_Mutation_p.R134W|STOML1_ENST00000359750.4_Missense_Mutation_p.R184W|STOML1_ENST00000316911.6_Missense_Mutation_p.R134W	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	184						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGGATCTCCCGCAGCGGCCTC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19400	0.0		0.0	False		,,,				2504	0.0					ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(550-552)Cgg>Tgg		stomatin (EPB72)-like 1		G	TRP/ARG	0,4396		0,0,2198	82.0	74.0	77.0		550	3.4	0.5	15	dbSNP_132	77	1,8593	1.2+/-3.3	0,1,4296	no	missense	STOML1	NM_004809.3	101	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	184/399	74280984	1,12989	2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74280984G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.550C>T	15.37:g.74280984G>A	ENSP00000319323:p.Arg184Trp					STOML1_ENST00000561656.1_Missense_Mutation_p.R97W|STOML1_ENST00000564777.1_Missense_Mutation_p.R134W|STOML1_ENST00000541638.1_Missense_Mutation_p.R142W|STOML1_ENST00000316911.6_Missense_Mutation_p.R134W|STOML1_ENST00000359750.4_Missense_Mutation_p.R184W	p.R184W	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			4	674	-			184					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.550C>T	CCDS10254.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.51	3.639448	0.67244	0.0	1.16E-4	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	4.34	3.4	0.38934	.	0.164918	0.50627	D	0.000103	D	0.94538	0.8241	L	0.47716	1.5	0.44337	D	0.997224	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.998;0.998	D;D;D;D;D;D	0.72075	0.976;0.91;0.96;0.91;0.915;0.915	D	0.94296	0.7533	10	0.72032	D	0.01	-16.5557	12.0919	0.53730	0.0:0.0:0.8268:0.1732	.	142;184;134;184;184;184	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	W	184;134;142;184	ENSP00000319323:R184W;ENSP00000319384:R134W;ENSP00000442478:R142W;ENSP00000352788:R184W	ENSP00000319323:R184W	R	-	1	2	STOML1	72068037	0.923000	0.31300	0.521000	0.27850	0.986000	0.74619	0.317000	0.19487	1.002000	0.39104	0.655000	0.94253	CGG		0.617	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		25	31	0	0	0	1	0	25	31				
MCM10	55388	broad.mit.edu	37	10	13246221	13246221	+	Silent	SNP	C	C	T	rs536238621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13246221C>T	ENST00000484800.2	+	18	2461	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	MCM10_ENST00000378714.3_Silent_p.C785C|MCM10_ENST00000378694.1_Silent_p.C785C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	786	Zinc finger-like 2. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTGCAGTGCGCCTATACCC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20171	0.0		0.0	False		,,,				2504	0.0					ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(2353-2355)tgC>tgT		minichromosome maintenance complex component 10							91.0	79.0	83.0					10																	13246221		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13246221C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2358C>T	10.37:g.13246221C>T						MCM10_ENST00000484800.2_Silent_p.C786C|MCM10_ENST00000378714.3_Silent_p.C785C	p.C785C			Q7L590	MCM10_HUMAN			17	2430	+			786					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.2355C>T	CCDS7096.1																																																																																				0.522	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		9	22	0	0	0	1	0	9	22				
TNFRSF4	7293	broad.mit.edu	37	1	1148385	1148385	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1148385G>A	ENST00000379236.3	-	3	361	c.357C>T	c.(355-357)taC>taT	p.Y119Y	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	119					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAGGCTTGTAGCTGTCCA	0.697																																						ENST00000379236.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(355-357)taC>taT		tumor necrosis factor receptor superfamily, member 4							19.0	20.0	20.0					1																	1148385		2196	4286	6482	SO:0001819	synonymous_variant	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1148385G>A	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.357C>T	1.37:g.1148385G>A						TNFRSF4_ENST00000453580.1_5'UTR	p.Y119Y	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	361	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	119					Q13663|Q2M312|Q5T7M0	Silent	SNP	ENST00000379236.3	37	c.357C>T	CCDS11.1	.	.	.	.	.	.	.	.	.	.	g	0.026	-1.371871	0.01225	.	.	ENSG00000186827	ENST00000453580	.	.	.	3.69	1.8	0.24995	.	.	.	.	.	.	.	.	.	.	.	0.20821	N	0.999842	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7134	6.9832	0.24713	0.2196:0.0:0.7804:0.0	.	.	.	.	X	65	.	.	Q	-	1	0	TNFRSF4	1138248	0.171000	0.23029	0.170000	0.22879	0.093000	0.18481	0.103000	0.15292	0.379000	0.24794	-0.371000	0.07208	CAA		0.697	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			6	15	0	0	0	1	0	6	15				
BSN	8927	broad.mit.edu	37	3	49689802	49689802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689802G>A	ENST00000296452.4	+	5	2927	c.2813G>A	c.(2812-2814)aGc>aAc	p.S938N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	938					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCTCAACAGCACGGGAAGT	0.622																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2812-2814)aGc>aAc		bassoon presynaptic cytomatrix protein							63.0	63.0	63.0					3																	49689802		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689802G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2813G>A	3.37:g.49689802G>A	ENSP00000296452:p.Ser938Asn						p.S938N	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2927	+			938					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2813G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014423	0.35511	.	.	ENSG00000164061	ENST00000296452	T	0.23754	1.89	4.81	4.81	0.61882	.	0.096970	0.64402	D	0.000001	T	0.26846	0.0657	L	0.47016	1.485	0.34523	D	0.708398	B	0.27765	0.188	B	0.29267	0.1	T	0.30909	-0.9962	10	0.33141	T	0.24	.	17.4691	0.87641	0.0:0.0:1.0:0.0	.	938	Q9UPA5	BSN_HUMAN	N	938	ENSP00000296452:S938N	ENSP00000296452:S938N	S	+	2	0	BSN	49664806	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.280000	0.72626	2.206000	0.71126	0.561000	0.74099	AGC		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		26	32	0	0	0	1	0	26	32				
LYST	1130	broad.mit.edu	37	1	235969400	235969400	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969400C>A	ENST00000389794.3	-	6	3210	c.3036G>T	c.(3034-3036)aaG>aaT	p.K1012N	LYST_ENST00000389793.2_Missense_Mutation_p.K1012N|LYST_ENST00000536965.1_Missense_Mutation_p.K1012N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1012					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATCTCCCTCCTTTTTTCCTT	0.333																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3034-3036)aaG>aaT		lysosomal trafficking regulator							90.0	99.0	96.0					1																	235969400		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969400C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3036G>T	1.37:g.235969400C>A	ENSP00000374444:p.Lys1012Asn					LYST_ENST00000389793.2_Missense_Mutation_p.K1012N|LYST_ENST00000536965.1_Missense_Mutation_p.K1012N	p.K1012N			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3210	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1012					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3036G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	5.621	0.299277	0.10622	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.66280	-0.2;-0.2;0.99	5.04	2.15	0.27550	.	.	.	.	.	T	0.45074	0.1324	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.007;0.024	B;B	0.15484	0.004;0.013	T	0.34650	-0.9820	9	0.48119	T	0.1	.	3.8318	0.08877	0.1712:0.4859:0.0:0.3429	.	1012;1012	Q99698-3;Q99698	.;LYST_HUMAN	N	1012	ENSP00000374444:K1012N;ENSP00000374443:K1012N;ENSP00000438315:K1012N	ENSP00000374443:K1012N	K	-	3	2	LYST	234036023	0.000000	0.05858	0.003000	0.11579	0.401000	0.30781	0.091000	0.15046	0.300000	0.22699	0.563000	0.77884	AAG		0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			45	71	1	0	2.24893e-16	1	2.90283e-16	45	71				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48760145	48760145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48760145C>A	ENST00000341698.2	-	2	134	c.135G>T	c.(133-135)caG>caT	p.Q45H	TMEM189_ENST00000371652.4_Missense_Mutation_p.Q45H|TMEM189_ENST00000557021.1_Missense_Mutation_p.Q45H|TMEM189_ENST00000371650.5_Missense_Mutation_p.Q45H	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGCACCACTCCTGGAGGCGCT	0.587																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(133-135)caG>caT		transmembrane protein 189							66.0	57.0	60.0					20																	48760145		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48760145C>A	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.135G>T	20.37:g.48760145C>A	ENSP00000344166:p.Gln45His					TMEM189_ENST00000371652.4_Missense_Mutation_p.Q45H|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.Q45H|TMEM189_ENST00000371650.5_Missense_Mutation_p.Q45H	p.Q45H	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		2	295	-									Missense_Mutation	SNP	ENST00000341698.2	37	c.135G>T	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300267	0.81136	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.56103	0.48;0.48;0.76;0.76	5.44	5.44	0.79542	.	.	.	.	.	T	0.73737	0.3625	M	0.81802	2.56	0.26687	N	0.971423	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.72982	0.979;0.962;0.977	T	0.68002	-0.5524	9	0.72032	D	0.01	.	14.7489	0.69511	0.0:1.0:0.0:0.0	.	45;45;45	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	H	45	ENSP00000344166:Q45H;ENSP00000450635:Q45H;ENSP00000360713:Q45H;ENSP00000360715:Q45H	ENSP00000360713:Q45H	Q	-	3	2	TMEM189-UBE2V1;TMEM189	48193552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.850000	0.39328	2.565000	0.86533	0.561000	0.74099	CAG		0.587	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			10	17	1	0	5.16669e-11	1	6.41398e-11	10	17				
TRAPPC11	60684	broad.mit.edu	37	4	184615145	184615145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184615145C>T	ENST00000334690.6	+	22	2664	c.2462C>T	c.(2461-2463)gCt>gTt	p.A821V	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.A821V|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.A427V	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	821					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TCCTACCCGGCTTTACTCACT	0.403																																						ENST00000334690.6																			0											c.(2461-2463)gCt>gTt		trafficking protein particle complex 11							109.0	108.0	109.0					4																	184615145		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184615145C>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2462C>T	4.37:g.184615145C>T	ENSP00000335371:p.Ala821Val					TRAPPC11_ENST00000357207.4_Missense_Mutation_p.A821V|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.A427V	p.A821V	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			22	2664	+			821					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.2462C>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725335	0.68959	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.78	5.78	0.91487	.	0.056069	0.64402	D	0.000001	T	0.75324	0.3834	L	0.57536	1.79	0.80722	D	1	D;D;B;P	0.67145	0.996;0.996;0.193;0.925	D;D;B;P	0.63597	0.916;0.916;0.055;0.691	T	0.70223	-0.4931	9	0.30078	T	0.28	.	19.9991	0.97403	0.0:1.0:0.0:0.0	.	552;427;821;821	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	V	821;821;821;427	.	ENSP00000335371:A821V	A	+	2	0	C4orf41	184852139	1.000000	0.71417	0.206000	0.23566	0.646000	0.38490	7.818000	0.86416	2.724000	0.93272	0.655000	0.94253	GCT		0.403	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		36	88	0	0	0	1	0	36	88				
AMER1	139285	broad.mit.edu	37	X	63410757	63410757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410757G>A	ENST00000330258.3	-	2	2682	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	804					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ACCATGGGAGGCAGCTCAGGG	0.517																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2410-2412)Cct>Tct		APC membrane recruitment protein 1							42.0	38.0	39.0					X																	63410757		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63410757G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2410C>T	X.37:g.63410757G>A	ENSP00000329117:p.Pro804Ser					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.P804S	NM_152424.3	NP_689637.3					2	2682	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2410C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678901	0.68042	.	.	ENSG00000184675	ENST00000330258	T	0.77229	-1.08	5.0	5.0	0.66597	.	.	.	.	.	T	0.79730	0.4496	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78417	-0.2212	8	.	.	.	-8.3569	16.219	0.82244	0.0:0.0:1.0:0.0	.	804	Q5JTC6	F123B_HUMAN	S	804	ENSP00000329117:P804S	.	P	-	1	0	FAM123B	63327482	1.000000	0.71417	0.796000	0.32109	0.983000	0.72400	8.675000	0.91195	2.484000	0.83849	0.529000	0.55759	CCT		0.517	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		13	19	0	0	0	1	0	13	19				
FAM126B	285172	broad.mit.edu	37	2	201887581	201887581	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201887581A>G	ENST00000418596.3	-	4	313	c.126T>C	c.(124-126)taT>taC	p.Y42Y	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	42						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GAATAACTTTATAGAGGGCTG	0.333																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(124-126)taT>taC		family with sequence similarity 126, member B							96.0	98.0	97.0					2																	201887581		2203	4300	6503	SO:0001819	synonymous_variant	285172					intracellular		g.chr2:201887581A>G	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.126T>C	2.37:g.201887581A>G						FAM126B_ENST00000485144.1_5'UTR	p.Y42Y	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			4	313	-			42					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.126T>C	CCDS2335.1																																																																																				0.333	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		19	50	0	0	0	1	0	19	50				
FN1	2335	broad.mit.edu	37	2	216230269	216230269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216230269G>A	ENST00000359671.1	-	42	7095	c.6830C>T	c.(6829-6831)aCa>aTa	p.T2277I	FN1_ENST00000421182.1_Missense_Mutation_p.T2131I|FN1_ENST00000346544.3_Missense_Mutation_p.T2102I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000443816.1_Missense_Mutation_p.T2156I|FN1_ENST00000345488.5_Missense_Mutation_p.T2075I|FN1_ENST00000357867.4_Missense_Mutation_p.T2067I|FN1_ENST00000336916.4_Missense_Mutation_p.T2246I|FN1_ENST00000356005.4_Missense_Mutation_p.T2187I|FN1_ENST00000446046.1_Missense_Mutation_p.T2221I|FN1_ENST00000432072.2_Missense_Mutation_p.T2158I|FN1_ENST00000354785.4_Missense_Mutation_p.T2368I|FN1_ENST00000323926.6_Missense_Mutation_p.T2337I			P02751	FINC_HUMAN	fibronectin 1	2277	Fibrin-binding 2.|Fibronectin type-I 11. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCCAAGACATGTGCAGCTCAT	0.458																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(7102-7104)aCa>aTa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						311.0	263.0	279.0					2																	216230269		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216230269G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6830C>T	2.37:g.216230269G>A	ENSP00000352696:p.Thr2277Ile					FN1_ENST00000359671.1_Missense_Mutation_p.T2277I|FN1_ENST00000443816.1_Missense_Mutation_p.T2156I|FN1_ENST00000432072.2_Missense_Mutation_p.T2158I|FN1_ENST00000421182.1_Missense_Mutation_p.T2131I|FN1_ENST00000356005.4_Missense_Mutation_p.T2187I|FN1_ENST00000336916.4_Missense_Mutation_p.T2246I|FN1_ENST00000446046.1_Missense_Mutation_p.T2221I|FN1_ENST00000323926.6_Missense_Mutation_p.T2337I|FN1_ENST00000345488.5_Missense_Mutation_p.T2075I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000346544.3_Missense_Mutation_p.T2102I|FN1_ENST00000357867.4_Missense_Mutation_p.T2067I	p.T2368I			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	43	7472	-		Renal(323;0.127)	2277					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.7103C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.203198	0.95033	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	6.17	6.17	0.99709	Fibronectin, type I (4);Complement control module (1);	0.000000	0.64402	D	0.000001	T	0.71056	0.3295	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0;1.0;0.998;1.0;0.999;1.0	T	0.70263	-0.4920	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2158;2337;2067;2187;2221;2246;2278;2131;2156;2368;2277	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	I	2131;2337;2246;2067;2368;2278;2277;2102;2075;2221;2156;2158;2187;994	ENSP00000394423:T2131I;ENSP00000323534:T2337I;ENSP00000338200:T2246I;ENSP00000350534:T2067I;ENSP00000346839:T2368I;ENSP00000352696:T2277I;ENSP00000265312:T2102I;ENSP00000273049:T2075I;ENSP00000410422:T2221I;ENSP00000415018:T2156I;ENSP00000399538:T2158I;ENSP00000348285:T2187I;ENSP00000416139:T994I	ENSP00000265313:T2278I	T	-	2	0	FN1	215938514	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACA		0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		7	163	0	0	0	1	0	7	163				
TMPRSS13	84000	broad.mit.edu	37	11	117776418	117776418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117776418C>T	ENST00000430170.2	-	10	1403	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G439E|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G439E|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.G404E	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	439	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AAAGGTCTGTCCATGCATGGG	0.522																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(1210-1212)gGa>gAa		transmembrane protease, serine 13							93.0	90.0	91.0					11																	117776418		2104	4234	6338	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117776418C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1316G>A	11.37:g.117776418C>T	ENSP00000387702:p.Gly439Glu					TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G439E|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G439E|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G439E	p.G404E	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	9	1284	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	434			Peptidase S1.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.1211G>A	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.264802	0.59431	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.05	5.05	0.67936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000012	D	0.88566	0.6471	N	0.16903	0.455	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.97110	0.985;1.0;0.926	D	0.88801	0.3285	10	0.54805	T	0.06	.	10.6035	0.45381	0.0:0.9107:0.0:0.0893	.	434;434;439	E9PHM4;Q9BYE2;E9PRA0	.;TMPSD_HUMAN;.	E	404;434;439;439;439	ENSP00000435813:G404E;ENSP00000434279:G439E;ENSP00000387702:G439E;ENSP00000394114:G439E	ENSP00000337113:G434E	G	-	2	0	TMPRSS13	117281628	0.956000	0.32656	0.999000	0.59377	0.993000	0.82548	1.915000	0.39976	2.338000	0.79540	0.655000	0.94253	GGA		0.522	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		4	9	0	0	0	1	0	4	9				
VPS13B	157680	broad.mit.edu	37	8	100479713	100479713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100479713C>A	ENST00000358544.2	+	24	3628	c.3517C>A	c.(3517-3519)Ctt>Att	p.L1173I	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1173I|VPS13B_ENST00000395996.1_Missense_Mutation_p.L1173I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1173					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGTGACACTTTGCCTAGT	0.443																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3517-3519)Ctt>Att		vacuolar protein sorting 13 homolog B (yeast)							252.0	231.0	238.0					8																	100479713		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100479713C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3517C>A	8.37:g.100479713C>A	ENSP00000351346:p.Leu1173Ile					VPS13B_ENST00000358544.2_Missense_Mutation_p.L1173I|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1173I	p.L1173I			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		24	3628	+	Breast(36;3.73e-07)		1173					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3517C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205947	0.39003	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.52526	0.66;0.66;0.66	5.94	4.16	0.48862	.	0.134585	0.49916	D	0.000130	T	0.47857	0.1468	L	0.56769	1.78	0.43246	D	0.995163	B;P;B;P	0.36010	0.191;0.481;0.297;0.532	B;B;B;B	0.40864	0.156;0.342;0.129;0.189	T	0.38090	-0.9677	10	0.34782	T	0.22	.	12.3974	0.55393	0.0:0.865:0.0:0.135	.	1172;1173;1173;1173	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	I	1173	ENSP00000349685:L1173I;ENSP00000351346:L1173I;ENSP00000379318:L1173I	ENSP00000349685:L1173I	L	+	1	0	VPS13B	100548889	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.341000	0.43983	0.855000	0.35359	0.561000	0.74099	CTT		0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		63	152	1	0	7.05995e-25	1	9.37592e-25	63	152				
PYHIN1	149628	broad.mit.edu	37	1	158943460	158943460	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158943460A>G	ENST00000368140.1	+	8	1628	c.1383A>G	c.(1381-1383)gcA>gcG	p.A461A	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Silent_p.A452A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	461					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACCCAGGAGCACAGTCATCGC	0.428																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1381-1383)gcA>gcG		pyrin and HIN domain family, member 1							149.0	133.0	139.0					1																	158943460		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158943460A>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1383A>G	1.37:g.158943460A>G						PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Silent_p.A452A|PYHIN1_ENST00000392254.2_Intron	p.A461A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			8	1628	+	all_hematologic(112;0.0378)		461					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.1383A>G	CCDS1178.1																																																																																				0.428	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		7	74	0	0	0	1	0	7	74				
MYH13	8735	broad.mit.edu	37	17	10253954	10253954	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10253954T>C	ENST00000418404.3	-	11	1226	c.1063A>G	c.(1063-1065)Acg>Gcg	p.T355A	MYH13_ENST00000252172.4_Missense_Mutation_p.T355A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	355	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACGGCTCCCGTCAGTTTGTAG	0.512																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1063-1065)Acg>Gcg		myosin, heavy chain 13, skeletal muscle							122.0	120.0	121.0					17																	10253954		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10253954T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1063A>G	17.37:g.10253954T>C	ENSP00000404570:p.Thr355Ala					MYH13_ENST00000570743.1_Missense_Mutation_p.T355A|MYH13_ENST00000252172.4_Missense_Mutation_p.T355A	p.T355A			Q9UKX3	MYH13_HUMAN			11	1226	-			355			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1063A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542863	0.86022	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87103	-2.21	4.15	4.15	0.48705	Myosin head, motor domain (2);	.	.	.	.	D	0.93210	0.7837	M	0.74258	2.255	0.46631	D	0.999134	B	0.28378	0.209	P	0.56343	0.796	D	0.93132	0.6534	9	0.59425	D	0.04	.	13.6407	0.62249	0.0:0.0:0.0:1.0	.	355	Q9UKX3	MYH13_HUMAN	A	355;30	ENSP00000252172:T355A	ENSP00000252172:T355A	T	-	1	0	MYH13	10194679	1.000000	0.71417	0.936000	0.37596	0.883000	0.51084	7.701000	0.84566	1.868000	0.54150	0.460000	0.39030	ACG		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		33	48	0	0	0	1	0	33	48				
LOC100130331	100130331	broad.mit.edu	37	1	238090658	238090658	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238090658G>A	ENST00000450451.1	+	0	2164					NR_027247.2																						CCCACATGCCGTCCTGCATCT	0.632																																						ENST00000450451.1																			0																																																			0							g.chr1:238090658G>A																													1.37:g.238090658G>A								NR_027247.2						0	2164	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.632	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			5	13	0	0	0	1	0	5	13				
ASIC2	40	broad.mit.edu	37	17	32483071	32483071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32483071C>T	ENST00000359872.6	-	1	1242	c.481G>A	c.(481-483)Ggc>Agc	p.G161S		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	161					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	AGGTCATGGCCCACACGGTGC	0.557																																						ENST00000359872.6																			0											c.(481-483)Ggc>Agc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						104.0	110.0	108.0					17																	32483071		2114	4244	6358	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483071C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.481G>A	17.37:g.32483071C>T	ENSP00000352934:p.Gly161Ser						p.G161S	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1242	-			161					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.481G>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061898	0.76187	.	.	ENSG00000108684	ENST00000359872	T	0.61742	0.08	5.06	5.06	0.68205	.	.	.	.	.	T	0.68274	0.2983	M	0.69358	2.11	0.80722	D	1	P	0.46912	0.886	P	0.55667	0.781	T	0.63629	-0.6594	9	0.23891	T	0.37	.	15.9671	0.79984	0.0:1.0:0.0:0.0	.	161	Q16515	ACCN1_HUMAN	S	161	ENSP00000352934:G161S	ENSP00000352934:G161S	G	-	1	0	ACCN1	29507184	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.647000	0.83462	2.616000	0.88540	0.655000	0.94253	GGC		0.557	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	100	0	0	0	1	0	7	100				
PHF20L1	51105	broad.mit.edu	37	8	133854807	133854807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854807G>A	ENST00000395386.2	+	19	2734	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	PHF20L1_ENST00000395390.2_Missense_Mutation_p.R787Q|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R199Q|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	812							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCGGGAAGCGAAAAGACCAA	0.348																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(2434-2436)cGa>cAa		PHD finger protein 20-like 1							60.0	57.0	58.0					8																	133854807		1817	4071	5888	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133854807G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2435G>A	8.37:g.133854807G>A	ENSP00000378784:p.Arg812Gln					PHF20L1_ENST00000395390.2_Missense_Mutation_p.R787Q|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R199Q	p.R812Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	2734	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		812					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2435G>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265366	0.23136	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.27104	1.69;1.7	5.11	2.24	0.28232	.	0.425404	0.20192	U	0.097292	T	0.10294	0.0252	N	0.08118	0	0.23542	N	0.997455	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.29366	-1.0014	10	0.21540	T	0.41	-36.292	4.7363	0.12989	0.2358:0.0:0.6129:0.1513	.	787;812	F8W9L8;A8MW92	.;P20L1_HUMAN	Q	812;199;787	ENSP00000378784:R812Q;ENSP00000378788:R787Q	ENSP00000220847:R199Q	R	+	2	0	PHF20L1	133923989	0.970000	0.33590	0.932000	0.37286	0.976000	0.68499	2.409000	0.44583	0.240000	0.21263	0.650000	0.86243	CGA		0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		17	28	0	0	0	1	0	17	28				
ZZZ3	26009	broad.mit.edu	37	1	78098585	78098585	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78098585T>A	ENST00000370801.3	-	5	930	c.455A>T	c.(454-456)gAc>gTc	p.D152V	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	152					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGCATCATTGTCCACTACTGT	0.388																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(454-456)gAc>gTc		zinc finger, ZZ-type containing 3							156.0	157.0	157.0					1																	78098585		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098585T>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.455A>T	1.37:g.78098585T>A	ENSP00000359837:p.Asp152Val					ZZZ3_ENST00000370798.1_Intron	p.D152V	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	930	-			152					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.455A>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562617	0.45694	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	5.34	0.76211	.	0.215486	0.48286	D	0.000193	T	0.66587	0.2804	L	0.54323	1.7	0.80722	D	1	D;P;D	0.76494	0.999;0.952;0.971	D;P;P	0.65010	0.931;0.601;0.776	T	0.66901	-0.5806	8	.	.	.	.	15.64	0.76989	0.0:0.0:0.0:1.0	.	152;152;152	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	V	152	.	.	D	-	2	0	ZZZ3	77871173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.257000	0.65473	2.141000	0.66446	0.528000	0.53228	GAC		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		10	252	0	0	0	1	0	10	252				
CGRRF1	10668	broad.mit.edu	37	14	55005088	55005088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55005088C>T	ENST00000216420.7	+	6	1118	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	329					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAAGACAAACCGAAGACTCTT	0.383																																						ENST00000216420.7																			0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(985-987)cCg>cTg		cell growth regulator with ring finger domain 1							66.0	63.0	64.0					14																	55005088		2203	4300	6503	SO:0001583	missense	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:55005088C>T	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.986C>T	14.37:g.55005088C>T	ENSP00000216420:p.Pro329Leu						p.P329L	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			6	1118	+			329					Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	c.986C>T	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.594753	0.00126	.	.	ENSG00000100532	ENST00000216420	T	0.23147	1.92	5.41	-4.78	0.03209	.	1.198720	0.05872	N	0.624742	T	0.05686	0.0149	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	10	0.02654	T	1	-0.6632	4.7983	0.13282	0.3:0.1811:0.0:0.519	.	329	Q99675	CGRF1_HUMAN	L	329	ENSP00000216420:P329L	ENSP00000216420:P329L	P	+	2	0	CGRRF1	54074838	0.042000	0.20092	0.002000	0.10522	0.001000	0.01503	-0.182000	0.09726	-0.345000	0.08325	-2.977000	0.00080	CCG		0.383	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		17	20	0	0	0	1	0	17	20				
ABCB4	5244	broad.mit.edu	37	7	87043000	87043000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87043000C>T	ENST00000265723.4	-	22	2827	c.2716G>A	c.(2716-2718)Gtt>Att	p.V906I	ABCB4_ENST00000358400.3_Missense_Mutation_p.V906I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V906I|ABCB4_ENST00000545634.1_Missense_Mutation_p.V906I|ABCB4_ENST00000453593.1_Missense_Mutation_p.V906I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	906	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AAAGACACAACTGTCCTAATA	0.343																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2716-2718)Gtt>Att		ATP-binding cassette, sub-family B (MDR/TAP), member 4							131.0	136.0	135.0					7																	87043000		2203	4299	6502	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87043000C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2716G>A	7.37:g.87043000C>T	ENSP00000265723:p.Val906Ile					ABCB4_ENST00000545634.1_Missense_Mutation_p.V906I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V906I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V906I|ABCB4_ENST00000453593.1_Missense_Mutation_p.V906I	p.V906I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			22	2827	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		906			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2716G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647468	0.47258	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.56	4.67	0.58626	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	M	0.72479	2.2	0.58432	D	0.999997	P;B;B	0.42123	0.771;0.087;0.107	B;B;B	0.42625	0.393;0.141;0.221	D	0.92193	0.5761	10	0.40728	T	0.16	-15.2022	15.2664	0.73666	0.0:0.7354:0.2646:0.0	.	906;906;906	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	I	906	ENSP00000352135:V906I;ENSP00000351172:V906I;ENSP00000265723:V906I;ENSP00000392983:V906I;ENSP00000437465:V906I	ENSP00000265723:V906I	V	-	1	0	ABCB4	86880936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.242000	0.51384	1.459000	0.47892	0.650000	0.86243	GTT		0.343	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		42	65	0	0	0	1	0	42	65				
KRTAP9-4	85280	broad.mit.edu	37	17	39406254	39406254	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406254C>T	ENST00000334109.2	+	1	316	c.282C>T	c.(280-282)agC>agT	p.S94S		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	94	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCAGAGCAGCTCCTGTGCAC	0.622																																						ENST00000334109.2																			0				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(280-282)agC>agT		keratin associated protein 9-4							164.0	151.0	156.0					17																	39406254		2203	4300	6503	SO:0001819	synonymous_variant	85280					keratin filament		g.chr17:39406254C>T	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.282C>T	17.37:g.39406254C>T							p.S94S	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	316	+		Breast(137;0.000496)	94			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Silent	SNP	ENST00000334109.2	37	c.282C>T	CCDS11386.1																																																																																				0.622	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			38	65	0	0	0	1	0	38	65				
IREB2	3658	broad.mit.edu	37	15	78730683	78730683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78730683G>A	ENST00000258886.8	+	1	153	c.4G>A	c.(4-6)Gac>Aac	p.D2N	IREB2_ENST00000560440.1_Missense_Mutation_p.D2N	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	2					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCCGGCGATGGACGCCCCAAA	0.657																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(4-6)Gac>Aac		iron-responsive element binding protein 2							25.0	26.0	26.0					15																	78730683		2195	4289	6484	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78730683G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.4G>A	15.37:g.78730683G>A	ENSP00000258886:p.Asp2Asn					IREB2_ENST00000560440.1_Missense_Mutation_p.D2N	p.D2N	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	1	153	+			2					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.4G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215196	0.95104	.	.	ENSG00000136381	ENST00000258886	T	0.17854	2.25	4.78	4.78	0.61160	.	0.846678	0.10490	N	0.668579	T	0.14527	0.0351	L	0.36672	1.1	0.29802	N	0.832361	P;P	0.43231	0.455;0.801	B;B	0.34180	0.086;0.177	T	0.06516	-1.0822	10	0.59425	D	0.04	.	13.2013	0.59769	0.0:0.0:1.0:0.0	.	2;2	P48200;Q8WVK6	IREB2_HUMAN;.	N	2	ENSP00000258886:D2N	ENSP00000258886:D2N	D	+	1	0	IREB2	76517738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.964000	0.56780	2.473000	0.83533	0.655000	0.94253	GAC		0.657	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		4	3	0	0	0	1	0	4	3				
PWP2	5822	broad.mit.edu	37	21	45542167	45542167	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45542167G>T	ENST00000291576.7	+	14	1873	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	582					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCTCCATTGAGGGCAGGCATG	0.587																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1744-1746)gaG>gaT		PWP2 periodic tryptophan protein homolog (yeast)							126.0	95.0	106.0					21																	45542167		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45542167G>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1746G>T	21.37:g.45542167G>T	ENSP00000291576:p.Glu582Asp						p.E582D	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	14	1873	+			582					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1746G>T	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	5.137	0.210876	0.09757	.	.	ENSG00000241945	ENST00000291576	T	0.55052	0.54	4.96	0.103	0.14526	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.341610	0.33980	N	0.004380	T	0.25901	0.0631	N	0.05554	-0.025	0.43036	D	0.994617	B	0.06786	0.001	B	0.06405	0.002	T	0.05886	-1.0858	10	0.16420	T	0.52	-12.7998	9.3837	0.38329	0.3635:0.0:0.6365:0.0	.	582	Q15269	PWP2_HUMAN	D	582	ENSP00000291576:E582D	ENSP00000291576:E582D	E	+	3	2	PWP2	44366595	0.995000	0.38212	0.989000	0.46669	0.767000	0.43475	0.236000	0.17967	0.084000	0.17077	-0.136000	0.14681	GAG		0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		26	29	1	0	1.33986e-20	1	1.75989e-20	26	29				
FAT3	120114	broad.mit.edu	37	11	92086202	92086202	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92086202T>G	ENST00000298047.6	+	1	941	c.924T>G	c.(922-924)ccT>ccG	p.P308P	FAT3_ENST00000525166.1_Silent_p.P158P|FAT3_ENST00000409404.2_Silent_p.P308P|FAT3_ENST00000541502.1_Silent_p.P308P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGGGATCCTTTAGATCAGT	0.453										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(922-924)ccT>ccG		FAT atypical cadherin 3							94.0	87.0	89.0					11																	92086202		1959	4160	6119	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086202T>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.924T>G	11.37:g.92086202T>G		TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Silent_p.P308P|FAT3_ENST00000525166.1_Silent_p.P158P|FAT3_ENST00000409404.2_Silent_p.P308P	p.P308P			Q8TDW7	FAT3_HUMAN			1	941	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	308			Cadherin 3.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.924T>G																																																																																					0.453	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	44	0	0	0	1	0	4	44				
REXO4	57109	broad.mit.edu	37	9	136282769	136282769	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136282769A>C	ENST00000371942.3	-	1	395	c.196T>G	c.(196-198)Ttt>Gtt	p.F66V	ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.F66V|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	66					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTGAGAAAAGTCTTCTGGT	0.587																																						ENST00000371942.3																			0				kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(196-198)Ttt>Gtt		REX4, RNA exonuclease 4 homolog (S. cerevisiae)							82.0	92.0	89.0					9																	136282769		2203	4300	6503	SO:0001583	missense	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136282769A>C	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.196T>G	9.37:g.136282769A>C	ENSP00000361010:p.Phe66Val					REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.F66V	p.F66V	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	1	395	-			66					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	c.196T>G	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219155	0.79464	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000371935;ENST00000454825	T;T	0.39229	1.09;1.23	3.93	3.93	0.45458	.	0.213613	0.41938	N	0.000793	T	0.62060	0.2397	M	0.76328	2.33	0.29219	N	0.87405	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60762	-0.7199	10	0.54805	T	0.06	-5.0164	11.9779	0.53103	1.0:0.0:0.0:0.0	.	66;66	Q9GZR2-2;Q9GZR2	.;REXO4_HUMAN	V	51;66;66;66	ENSP00000403272:F51V;ENSP00000361010:F66V	ENSP00000361003:F66V	F	-	1	0	REXO4	135272590	1.000000	0.71417	0.672000	0.29872	0.688000	0.40055	4.135000	0.57997	1.422000	0.47177	0.454000	0.30748	TTT		0.587	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			14	111	0	0	0	1	0	14	111				
PASK	23178	broad.mit.edu	37	2	242066235	242066235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242066235G>A	ENST00000405260.1	-	10	2793	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	PASK_ENST00000234040.4_Silent_p.L699L|PASK_ENST00000358649.4_Silent_p.L699L|PASK_ENST00000544142.1_Silent_p.L513L|PASK_ENST00000539818.1_Silent_p.L483L|PASK_ENST00000403638.3_Silent_p.L699L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	699					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTCCCAGATCGCAGGAC	0.667																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2095-2097)Ctg>Ttg		PAS domain containing serine/threonine kinase							63.0	67.0	66.0					2																	242066235		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066235G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2095C>T	2.37:g.242066235G>A						PASK_ENST00000405260.1_Silent_p.L699L|PASK_ENST00000539818.1_Silent_p.L483L|PASK_ENST00000544142.1_Silent_p.L513L|PASK_ENST00000358649.4_Silent_p.L699L|PASK_ENST00000234040.4_Silent_p.L699L	p.L699L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2186	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	699					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2095C>T	CCDS2545.1																																																																																				0.667	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		33	54	0	0	0	1	0	33	54				
TLE3	7090	broad.mit.edu	37	15	70347546	70347546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70347546C>T	ENST00000558939.1	-	15	2806	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	TLE3_ENST00000557907.1_Missense_Mutation_p.A469T|TLE3_ENST00000559929.1_Missense_Mutation_p.A487T|TLE3_ENST00000539550.1_Missense_Mutation_p.A404T|TLE3_ENST00000558201.1_Missense_Mutation_p.A483T|TLE3_ENST00000558379.1_Missense_Mutation_p.A472T|TLE3_ENST00000560939.1_Missense_Mutation_p.A479T|TLE3_ENST00000317509.8_Missense_Mutation_p.A465T|TLE3_ENST00000559048.1_Missense_Mutation_p.A477T|TLE3_ENST00000559191.1_Missense_Mutation_p.A58T|TLE3_ENST00000557997.1_Missense_Mutation_p.A469T|TLE3_ENST00000451782.2_Missense_Mutation_p.A474T|TLE3_ENST00000560589.1_Missense_Mutation_p.A421T|TLE3_ENST00000442299.2_Missense_Mutation_p.A469T|TLE3_ENST00000440567.3_Missense_Mutation_p.A467T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	477					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTGCCGGGCGTGCCTCGGG	0.642																																						ENST00000558939.1																			2	Substitution - Missense(2)	p.A477T(2)	large_intestine(1)|endometrium(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1429-1431)Gcc>Acc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							59.0	66.0	64.0					15																	70347546		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347546C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1429G>A	15.37:g.70347546C>T	ENSP00000452871:p.Ala477Thr					TLE3_ENST00000442299.2_Missense_Mutation_p.A469T|TLE3_ENST00000558379.1_Missense_Mutation_p.A472T|TLE3_ENST00000451782.2_Missense_Mutation_p.A474T|TLE3_ENST00000560589.1_Missense_Mutation_p.A421T|TLE3_ENST00000559048.1_Missense_Mutation_p.A477T|TLE3_ENST00000559929.1_Missense_Mutation_p.A487T|TLE3_ENST00000557997.1_Missense_Mutation_p.A469T|TLE3_ENST00000317509.8_Missense_Mutation_p.A465T|TLE3_ENST00000539550.1_Missense_Mutation_p.A404T|TLE3_ENST00000558201.1_Missense_Mutation_p.A483T|TLE3_ENST00000560939.1_Missense_Mutation_p.A479T|TLE3_ENST00000440567.3_Missense_Mutation_p.A467T|TLE3_ENST00000559191.1_Missense_Mutation_p.A58T|TLE3_ENST00000557907.1_Missense_Mutation_p.A469T	p.A477T			Q04726	TLE3_HUMAN			15	2806	-			477					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1429G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475341	0.96291	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.54	4.54	0.55810	WD40 repeat-like-containing domain (1);	0.179933	0.48286	D	0.000195	T	0.37652	0.1011	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.997;0.997;0.999;0.997;0.997;0.993;0.999;0.993	P;P;D;P;D;P;D;P	0.68621	0.889;0.778;0.959;0.778;0.916;0.684;0.955;0.771	T	0.42103	-0.9471	10	0.62326	D	0.03	-19.861	16.2284	0.82315	0.0:1.0:0.0:0.0	.	467;474;469;472;465;477;477;404	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	T	469;474;477;467;404;144	ENSP00000390007:A469T;ENSP00000394717:A474T;ENSP00000415057:A467T;ENSP00000442594:A404T	ENSP00000319233:A477T	A	-	1	0	TLE3	68134600	1.000000	0.71417	0.970000	0.41538	0.965000	0.64279	7.553000	0.82203	2.352000	0.79861	0.462000	0.41574	GCC		0.642	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		5	43	0	0	0	1	0	5	43				
CORO7	79585	broad.mit.edu	37	16	4409612	4409612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4409612G>A	ENST00000251166.4	-	22	2264	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	CORO7_ENST00000574025.1_Missense_Mutation_p.R622C|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R707C|CORO7_ENST00000537233.2_Missense_Mutation_p.R689C|CORO7_ENST00000539968.1_Missense_Mutation_p.R487C|CORO7-PAM16_ENST00000572274.1_5'Flank	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	707					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGCAGCTGGCGCTCACTTTGG	0.652											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2119-2121)Cgc>Tgc		coronin 7							22.0	26.0	25.0					16																	4409612		2195	4298	6493	SO:0001583	missense	79585							g.chr16:4409612G>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2119C>T	16.37:g.4409612G>A	ENSP00000251166:p.Arg707Cys		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7_ENST00000539968.1_Missense_Mutation_p.R487C|CORO7_ENST00000537233.2_Missense_Mutation_p.R689C|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R707C|CORO7_ENST00000574025.1_Missense_Mutation_p.R622C	p.R707C	NM_024535.4	NP_078811.3					22	2264	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2119C>T	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872759	0.72180	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.14640	2.49;2.49	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);	1.072820	0.07036	N	0.829280	T	0.50786	0.1636	M	0.91510	3.215	0.80722	D	1	P;P;P;D;P	0.89917	0.85;0.653;0.771;1.0;0.771	B;B;B;D;B	0.83275	0.429;0.027;0.149;0.996;0.233	T	0.32268	-0.9913	10	0.66056	D	0.02	-28.8454	14.9172	0.70807	0.0:0.0:0.8562:0.1438	.	622;689;487;707;688	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	C	707;622;487	ENSP00000251166:R707C;ENSP00000446221:R487C	ENSP00000251166:R707C	R	-	1	0	CORO7	4349613	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.098000	0.57748	2.580000	0.87095	0.561000	0.74099	CGC		0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		13	20	0	0	0	1	0	13	20				
SYNRG	11276	broad.mit.edu	37	17	35930816	35930816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35930816C>T	ENST00000339208.6	-	10	1407	c.1267G>A	c.(1267-1269)Ggc>Agc	p.G423S	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000394378.2_Missense_Mutation_p.G345S|SYNRG_ENST00000345615.4_Missense_Mutation_p.G345S|SYNRG_ENST00000346661.4_Missense_Mutation_p.G423S|SYNRG_ENST00000585472.1_Missense_Mutation_p.G344S|SYNRG_ENST00000502449.2_Missense_Mutation_p.G345S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	423					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTAATGCCCATGACTGGC	0.547																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1267-1269)Ggc>Agc		synergin, gamma							57.0	56.0	56.0					17																	35930816		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35930816C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1267G>A	17.37:g.35930816C>T	ENSP00000343610:p.Gly423Ser					SYNRG_ENST00000345615.4_Missense_Mutation_p.G345S|SYNRG_ENST00000585472.1_Missense_Mutation_p.G344S|SYNRG_ENST00000502449.2_Missense_Mutation_p.G345S|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.G345S|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.G423S	p.G423S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			10	1407	-			423					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1267G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310047	0.60414	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.46819	1.39;0.91;0.86	5.62	5.62	0.85841	.	0.128556	0.51477	N	0.000084	T	0.35189	0.0923	N	0.22421	0.69	0.41464	D	0.988069	B;B;B;B;B	0.24618	0.107;0.063;0.107;0.086;0.086	B;B;B;B;B	0.23018	0.034;0.034;0.034;0.043;0.043	T	0.14200	-1.0481	10	0.14656	T	0.56	-5.2462	17.8546	0.88759	0.0:1.0:0.0:0.0	.	345;345;345;423;423	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	S	423;423;345;345	ENSP00000005279:G423S;ENSP00000424893:G345S;ENSP00000377903:G345S	ENSP00000315722:G423S	G	-	1	0	SYNRG	33004929	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.744000	0.47450	2.661000	0.90470	0.650000	0.86243	GGC		0.547	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		17	20	0	0	0	1	0	17	20				
BCKDHA	593	broad.mit.edu	37	19	41925141	41925141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41925141G>A	ENST00000269980.2	+	5	954	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.G174S|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000595085.1_Missense_Mutation_p.G230S	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	196					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TGTCCACTACGGCTGCAAGGA	0.572																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(586-588)Ggc>Agc		branched chain keto acid dehydrogenase E1, alpha polypeptide							144.0	100.0	115.0					19																	41925141		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41925141G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.586G>A	19.37:g.41925141G>A	ENSP00000269980:p.Gly196Ser					CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000595085.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.G174S	p.G196S	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			5	954	+			196					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.586G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090235	0.94149	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D;D	0.99201	-5.55;-5.55;-5.55;-5.55	5.51	5.51	0.81932	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.985;1.0;0.985	D	0.99883	1.1116	10	0.87932	D	0	-40.5801	18.2225	0.89906	0.0:0.0:1.0:0.0	.	174;196;196;230	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	S	230;196;167;174;196	ENSP00000443246:G230S;ENSP00000269980:G196S;ENSP00000440345:G167S;ENSP00000416000:G174S	ENSP00000269980:G196S	G	+	1	0	BCKDHA;CTC-435M10.3	46616981	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	9.068000	0.93961	2.593000	0.87608	0.655000	0.94253	GGC		0.572	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		11	22	0	0	0	1	0	11	22				
CFP	5199	broad.mit.edu	37	X	47486268	47486268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47486268G>A	ENST00000396992.3	-	6	964	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	CFP_ENST00000247153.3_Missense_Mutation_p.R282W|CFP_ENST00000377005.2_Missense_Mutation_p.R282W|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	282	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGCACGTCCGTTGTTCCATG	0.667																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(844-846)Cgg>Tgg		complement factor properdin							34.0	32.0	33.0					X																	47486268		2203	4298	6501	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486268G>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.844C>T	X.37:g.47486268G>A	ENSP00000380189:p.Arg282Trp					CFP_ENST00000396992.3_Missense_Mutation_p.R282W|CFP_ENST00000377005.2_Missense_Mutation_p.R282W	p.R282W	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			7	1085	-			282			TSP type-1 4.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.844C>T	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590935	0.28357	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.33	4.46	0.54185	.	0.059078	0.64402	D	0.000004	D	0.87103	0.6094	H	0.99498	4.595	0.47698	D	0.99949	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89867	0.4020	10	0.87932	D	0	.	10.5501	0.45083	0.0:0.0:0.8068:0.1932	.	218;282	B3KVK6;P27918	.;PROP_HUMAN	W	282;282;282;147	ENSP00000380189:R282W;ENSP00000247153:R282W;ENSP00000366204:R282W;ENSP00000418258:R147W	ENSP00000247153:R282W	R	-	1	2	CFP	47371212	0.989000	0.36119	0.105000	0.21289	0.030000	0.12068	3.324000	0.52022	1.122000	0.41944	0.529000	0.55759	CGG		0.667	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		4	13	0	0	0	1	0	4	13				
CDCP1	64866	broad.mit.edu	37	3	45134805	45134805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45134805G>A	ENST00000296129.1	-	6	1725	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	531	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTCAGACCCTGCCTGGAGGCC	0.507																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1591-1593)Cag>Tag		CUB domain containing protein 1							64.0	67.0	66.0					3																	45134805		2203	4300	6503	SO:0001587	stop_gained	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45134805G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1591C>T	3.37:g.45134805G>A	ENSP00000296129:p.Gln531*						p.Q531*	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	6	1725	-			531			CUB.		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Nonsense_Mutation	SNP	ENST00000296129.1	37	c.1591C>T	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	37	6.576764	0.97676	.	.	ENSG00000163814	ENST00000296129	.	.	.	5.52	5.52	0.82312	.	0.228496	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.6256	0.88093	0.0:0.0:1.0:0.0	.	.	.	.	X	531	.	ENSP00000296129:Q531X	Q	-	1	0	CDCP1	45109809	1.000000	0.71417	0.877000	0.34402	0.550000	0.35303	6.310000	0.72830	2.596000	0.87737	0.561000	0.74099	CAG		0.507	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		9	67	0	0	0	1	0	9	67				
VIM	7431	broad.mit.edu	37	10	17277379	17277379	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277379A>T	ENST00000224237.5	+	6	1365	c.1220A>T	c.(1219-1221)gAg>gTg	p.E407V	VIM_ENST00000544301.1_Missense_Mutation_p.E407V|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	407	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGAAGGCGAGGAGAGCAGG	0.498																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1219-1221)gAg>gTg		vimentin							80.0	75.0	77.0					10																	17277379		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277379A>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1220A>T	10.37:g.17277379A>T	ENSP00000224237:p.Glu407Val					VIM_ENST00000224237.5_Missense_Mutation_p.E407V	p.E407V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1633	+			407			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1220A>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806304	0.90623	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.93659	-3.26;-3.26	5.73	5.73	0.89815	Filament (1);	0.330005	0.21462	N	0.074144	D	0.98121	0.9380	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	0.972;1.0;1.0;0.972	D;D;D;D	0.97110	0.93;0.995;1.0;0.93	D	0.99734	1.1013	10	0.87932	D	0	.	16.0609	0.80838	1.0:0.0:0.0:0.0	.	407;394;407;407	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	V	407;407;394	ENSP00000446007:E407V;ENSP00000224237:E407V	ENSP00000224237:E407V	E	+	2	0	VIM	17317385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.326000	0.96389	2.175000	0.68902	0.519000	0.50382	GAG		0.498	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		7	38	0	0	0	1	0	7	38				
MRGPRX1	259249	broad.mit.edu	37	11	18956162	18956162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18956162C>T	ENST00000302797.3	-	1	394	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGTTCCTGCGCATGCGGCA	0.557																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(169-171)cGc>cAc		MAS-related GPR, member X1							143.0	139.0	140.0					11																	18956162		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956162C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.170G>A	11.37:g.18956162C>T	ENSP00000305766:p.Arg57His					MRGPRX1_ENST00000526914.1_5'UTR	p.R57H	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	394	-			57					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.170G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	0.273	-0.991250	0.02162	.	.	ENSG00000170255	ENST00000302797	T	0.10860	2.83	2.43	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	0.831486	0.10560	N	0.660392	T	0.07908	0.0198	L	0.43757	1.38	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.28106	-1.0054	10	0.28530	T	0.3	.	7.2275	0.26024	0.0:0.3247:0.1217:0.5536	.	57	Q96LB2	MRGX1_HUMAN	H	57	ENSP00000305766:R57H	ENSP00000305766:R57H	R	-	2	0	MRGPRX1	18912738	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-2.774000	0.00777	-2.191000	0.00756	-1.579000	0.00862	CGC		0.557	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		35	79	0	0	0	1	0	35	79				
ADAD2	161931	broad.mit.edu	37	16	84228961	84228961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84228961G>A	ENST00000315906.5	+	5	845	c.793G>A	c.(793-795)Ggc>Agc	p.G265S	ADAD2_ENST00000268624.3_Missense_Mutation_p.G347S|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	265	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCTGGGCACCGGCAGCAGCTG	0.682																																						ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1039-1041)Ggc>Agc		adenosine deaminase domain containing 2							11.0	14.0	13.0					16																	84228961		2097	4124	6221	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84228961G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.793G>A	16.37:g.84228961G>A	ENSP00000325153:p.Gly265Ser					RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G265S	p.G347S	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			6	1132	+			265			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1039G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517782	0.64634	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.98329	-4.87;-4.87	5.05	5.05	0.67936	Adenosine deaminase/editase (2);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	M	0.93678	3.445	0.50313	D	0.999868	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99126	1.0851	10	0.87932	D	0	-42.1493	14.2678	0.66133	0.0:0.0:1.0:0.0	.	265;347	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	S	265;347	ENSP00000325153:G265S;ENSP00000268624:G347S	ENSP00000268624:G347S	G	+	1	0	ADAD2	82786462	1.000000	0.71417	0.279000	0.24732	0.095000	0.18619	6.146000	0.71777	2.500000	0.84329	0.650000	0.86243	GGC		0.682	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		5	7	0	0	0	1	0	5	7				
KIAA1549	57670	broad.mit.edu	37	7	138602434	138602434	+	Silent	SNP	C	C	T	rs375932444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138602434C>T	ENST00000422774.1	-	2	1986	c.1938G>A	c.(1936-1938)gcG>gcA	p.A646A	KIAA1549_ENST00000440172.1_Silent_p.A646A|KIAA1549_ENST00000242365.4_Silent_p.A596A			Q9HCM3	K1549_HUMAN	KIAA1549	646	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGACAGAGACGCAGGTGCTT	0.498			O	BRAF	pilocytic astrocytoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		20593	0.001		0.0	False		,,,				2504	0.0				NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1936-1938)gcG>gcA		KIAA1549							32.0	35.0	34.0					7																	138602434		1964	4156	6120	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602434C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1938G>A	7.37:g.138602434C>T						KIAA1549_ENST00000422774.1_Silent_p.A646A|KIAA1549_ENST00000242365.4_Silent_p.A596A	p.A646A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1986	-			646			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.1938G>A	CCDS56513.1																																																																																				0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			11	4	0	0	0	1	0	11	4				
OSBPL1A	114876	broad.mit.edu	37	18	21946860	21946860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21946860C>T	ENST00000319481.3	-	4	484	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	OSBPL1A_ENST00000582618.1_5'UTR|RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.R93Q	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	93	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCACCTTTCGTCCTGTAAA	0.418																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(277-279)cGa>cAa		oxysterol binding protein-like 1A							134.0	111.0	119.0					18																	21946860		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21946860C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.278G>A	18.37:g.21946860C>T	ENSP00000320291:p.Arg93Gln					RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.R93Q|OSBPL1A_ENST00000582618.1_5'UTR	p.R93Q	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			4	484	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		93					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.278G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081292	0.94050	.	.	ENSG00000141447	ENST00000319481;ENST00000399441	T;T	0.64803	0.63;-0.12	4.72	4.72	0.59763	Ankyrin repeat-containing domain (4);	0.590538	0.15342	U	0.267426	T	0.64713	0.2623	N	0.11023	0.085	0.53005	D	0.999963	D	0.71674	0.998	D	0.79108	0.992	T	0.71217	-0.4658	10	0.59425	D	0.04	-9.7784	16.4272	0.83818	0.0:1.0:0.0:0.0	.	93	Q9BXW6	OSBL1_HUMAN	Q	93	ENSP00000320291:R93Q;ENSP00000382370:R93Q	ENSP00000320291:R93Q	R	-	2	0	OSBPL1A	20200858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.589000	0.61006	2.164000	0.68074	0.563000	0.77884	CGA		0.418	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		17	47	0	0	0	1	0	17	47				
RET	5979	broad.mit.edu	37	10	43606695	43606695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43606695G>A	ENST00000355710.3	+	7	1536	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	RET_ENST00000340058.5_Missense_Mutation_p.G435D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	435					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCATTCAGTGGCATCAACGTC	0.582		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1303-1305)gGc>gAc		ret proto-oncogene	Sunitinib(DB01268)						128.0	113.0	118.0					10																	43606695		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606695G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1304G>A	10.37:g.43606695G>A	ENSP00000347942:p.Gly435Asp					RET_ENST00000340058.5_Missense_Mutation_p.G435D	p.G435D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			7	1536	+		Ovarian(717;0.0423)	435					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1304G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250810	0.59212	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.79554	-1.16;-1.28	5.61	5.61	0.85477	.	0.045304	0.85682	D	0.000000	D	0.89022	0.6597	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;0.989;1.0	D	0.89171	0.3537	10	0.66056	D	0.02	.	19.6278	0.95687	0.0:0.0:1.0:0.0	.	181;435;435	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	435	ENSP00000347942:G435D;ENSP00000344798:G435D	ENSP00000344798:G435D	G	+	2	0	RET	42926701	1.000000	0.71417	0.018000	0.16275	0.014000	0.08584	8.658000	0.91110	2.646000	0.89796	0.561000	0.74099	GGC		0.582	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		28	51	0	0	0	1	0	28	51				
TES	26136	broad.mit.edu	37	7	115889304	115889304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115889304C>T	ENST00000358204.4	+	3	559	c.344C>T	c.(343-345)cCt>cTt	p.P115L	TES_ENST00000393481.2_Missense_Mutation_p.P106L|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Intron|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000485009.1_3'UTR	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	115	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGTGGGCTCCTCCTGTCCAG	0.393																																						ENST00000358204.4																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(343-345)cCt>cTt		testis derived transcript (3 LIM domains)							108.0	102.0	104.0					7																	115889304		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889304C>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.344C>T	7.37:g.115889304C>T	ENSP00000350937:p.Pro115Leu					TES_ENST00000537767.1_Intron|TES_ENST00000485009.1_3'UTR|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.P106L	p.P115L	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	559	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	115			PET.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.344C>T	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640984	0.87859	.	.	ENSG00000135269	ENST00000358204;ENST00000455989;ENST00000257721;ENST00000393481	D;D;D	0.96232	-3.95;-3.95;-3.95	5.53	5.53	0.82687	PET domain (2);	0.082194	0.51477	N	0.000082	D	0.97873	0.9301	M	0.67700	2.07	0.80722	D	1	P;D	0.89917	0.807;1.0	P;D	0.97110	0.475;1.0	D	0.98239	1.0487	10	0.66056	D	0.02	-12.5673	19.8389	0.96675	0.0:1.0:0.0:0.0	.	115;115	B7Z5L5;Q9UGI8	.;TES_HUMAN	L	115;30;115;106	ENSP00000350937:P115L;ENSP00000413002:P30L;ENSP00000377121:P106L	ENSP00000257721:P115L	P	+	2	0	TES	115676540	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	6.959000	0.76031	2.755000	0.94549	0.650000	0.86243	CCT		0.393	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		81	56	0	0	0	1	0	81	56				
KNCN	148930	broad.mit.edu	37	1	47016788	47016788	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47016788A>G	ENST00000481882.2	-	1	411	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	KNCN_ENST00000524908.1_5'Flank|KNCN_ENST00000396314.3_Missense_Mutation_p.S34P|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	34						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCAGCCTTGGATACGGAGATG	0.627																																						ENST00000481882.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(100-102)Tcc>Ccc		kinocilin							57.0	68.0	65.0					1																	47016788		2061	4211	6272	SO:0001583	missense	148930					integral to membrane		g.chr1:47016788A>G	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.100T>C	1.37:g.47016788A>G	ENSP00000419705:p.Ser34Pro					KNCN_ENST00000396314.3_Missense_Mutation_p.S34P|MKNK1-AS1_ENST00000602433.1_RNA	p.S34P			A6PVL3	KNCN_HUMAN			1	411	-	Acute lymphoblastic leukemia(166;0.155)		34					A8MXE3	Missense_Mutation	SNP	ENST00000481882.2	37	c.100T>C		.	.	.	.	.	.	.	.	.	.	A	14.74	2.624205	0.46840	.	.	ENSG00000162456	ENST00000481882;ENST00000396314	T	0.70164	-0.46	5.39	4.19	0.49359	.	.	.	.	.	T	0.75686	0.3883	.	.	.	0.29509	N	0.854369	D	0.69078	0.997	D	0.63793	0.918	T	0.70200	-0.4937	8	0.59425	D	0.04	-8.8963	7.9139	0.29806	0.817:0.0:0.0:0.183	.	34	A6PVL3-2	.	P	34	ENSP00000419705:S34P	ENSP00000379607:S34P	S	-	1	0	KNCN	46789375	0.999000	0.42202	0.986000	0.45419	0.150000	0.21749	2.234000	0.43035	2.043000	0.60533	0.533000	0.62120	TCC		0.627	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		5	49	0	0	0	1	0	5	49				
AKAP17A	8227	broad.mit.edu	37	X	1712574	1712574	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1712574C>A	ENST00000313871.3	+	2	415	c.219C>A	c.(217-219)acC>acA	p.T73T	AKAP17A_ENST00000381261.3_Silent_p.T73T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	73					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCAAGAGCACCATGGACTTCA	0.577																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(217-219)acC>acA		A kinase (PRKA) anchor protein 17A							211.0	199.0	204.0					X																	1712574		2203	4296	6499	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712574C>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.219C>A	X.37:g.1712574C>A						AKAP17A_ENST00000381261.3_Silent_p.T73T	p.T73T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	415	+			73					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.219C>A	CCDS14116.1																																																																																				0.577	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		17	191	1	0	1.99824e-07	1	2.35189e-07	17	191				
CDCP1	64866	broad.mit.edu	37	3	45160089	45160089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45160089C>T	ENST00000296129.1	-	2	241	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.R36Q	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	36						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTTGCTTTCTCGTGGCAGAGC	0.458																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(106-108)cGa>cAa		CUB domain containing protein 1							81.0	81.0	81.0					3																	45160089		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45160089C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.107G>A	3.37:g.45160089C>T	ENSP00000296129:p.Arg36Gln					CDCP1_ENST00000425231.2_Missense_Mutation_p.R36Q|CDCP1_ENST00000490471.1_5'UTR	p.R36Q	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	241	-			36					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.107G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.523298	0.27299	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.44881	1.91;0.91	5.33	-10.7	0.00240	.	2.136600	0.01771	N	0.031209	T	0.28234	0.0697	L	0.38175	1.15	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.10450	0.003;0.005	T	0.21381	-1.0247	10	0.21540	T	0.41	.	8.8211	0.35027	0.1073:0.3241:0.4489:0.1197	.	36;36	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	Q	36	ENSP00000296129:R36Q;ENSP00000399342:R36Q	ENSP00000296129:R36Q	R	-	2	0	CDCP1	45135093	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	-2.111000	0.01333	-4.703000	0.00035	-0.258000	0.10820	CGA		0.458	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		16	38	0	0	0	1	0	16	38				
PHC2	1912	broad.mit.edu	37	1	33799704	33799704	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33799704G>A	ENST00000257118.5	-	9	1798	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	PHC2_ENST00000373418.3_Missense_Mutation_p.A47V|PHC2_ENST00000419414.2_Missense_Mutation_p.A583V|PHC2_ENST00000373416.1_Missense_Mutation_p.A47V|PHC2_ENST00000485928.1_Intron|RN7SKP16_ENST00000410180.1_RNA|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373422.3_Missense_Mutation_p.A188V|PHC2_ENST00000431992.1_Missense_Mutation_p.A553V	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	582					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAAAGGCTCCGCCCCCTCCTG	0.438																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1744-1746)gCg>gTg		polyhomeotic homolog 2 (Drosophila)							89.0	87.0	87.0					1																	33799704		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799704G>A	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1745C>T	1.37:g.33799704G>A	ENSP00000257118:p.Ala582Val					PHC2_ENST00000431992.1_Missense_Mutation_p.A553V|PHC2_ENST00000419414.2_Missense_Mutation_p.A583V|PHC2_ENST00000373416.1_Missense_Mutation_p.A47V|PHC2_ENST00000373422.3_Missense_Mutation_p.A188V|PHC2_ENST00000373418.3_Missense_Mutation_p.A47V|PHC2_ENST00000485928.1_Intron	p.A582V	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			9	1798	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	582					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1745C>T	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911077	0.92178	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.69194	-0.5209	10	0.42905	T	0.14	-10.1719	18.3732	0.90420	0.0:0.0:1.0:0.0	.	583;554;582	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	V	553;582;188;47;161;583;47	ENSP00000389436:A553V;ENSP00000257118:A582V;ENSP00000362521:A188V;ENSP00000362517:A47V;ENSP00000391440:A583V;ENSP00000362515:A47V	ENSP00000257118:A582V	A	-	2	0	PHC2	33572291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.532000	0.81985	2.941000	0.99782	0.655000	0.94253	GCG		0.438	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		25	30	0	0	0	1	0	25	30				
FCAMR	83953	broad.mit.edu	37	1	207140951	207140951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207140951C>T	ENST00000324852.4	-	2	559	c.85G>A	c.(85-87)Gct>Act	p.A29T	FCAMR_ENST00000450945.2_Missense_Mutation_p.A29T|FCAMR_ENST00000400962.3_Missense_Mutation_p.A29T	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	328					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						aaagtgccagcaatgagcctg	0.443																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(85-87)Gct>Act		Fc receptor, IgA, IgM, high affinity							232.0	195.0	207.0					1																	207140951		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207140951C>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.85G>A	1.37:g.207140951C>T	ENSP00000316491:p.Ala29Thr					FCAMR_ENST00000450945.2_Missense_Mutation_p.A29T|FCAMR_ENST00000400962.3_Missense_Mutation_p.A29T	p.A29T	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			2	559	-			328					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.85G>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776403	0.16051	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945	T;T;T	0.09817	2.94;3.3;2.94	3.48	-6.96	0.01622	.	.	.	.	.	T	0.05823	0.0152	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30650	-0.9971	6	0.36615	T	0.2	.	0.6253	0.00785	0.3199:0.1395:0.3006:0.24	.	.	.	.	T	29	ENSP00000383746:A29T;ENSP00000316491:A29T;ENSP00000392707:A29T	ENSP00000316491:A29T	A	-	1	0	FCAMR	205207574	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.321000	0.02697	-2.172000	0.00774	0.655000	0.94253	GCT		0.443	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		9	173	0	0	0	1	0	9	173				
F7	2155	broad.mit.edu	37	13	113772785	113772785	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772785C>A	ENST00000375581.3	+	9	899	c.864C>A	c.(862-864)gtC>gtA	p.V288V	F7_ENST00000541084.1_Silent_p.V219V|F7_ENST00000346342.3_Silent_p.V266V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	288	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGGCGCAGGTCATCATCCCCA	0.677																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(862-864)gtC>gtA		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						82.0	71.0	75.0					13																	113772785		2202	4297	6499	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772785C>A		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.864C>A	13.37:g.113772785C>A						F7_ENST00000346342.3_Silent_p.V266V|F7_ENST00000541084.1_Silent_p.V219V	p.V288V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	899	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	288			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.864C>A	CCDS9528.1																																																																																				0.677	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		20	38	1	0	2.21704e-12	1	2.7869e-12	20	38				
TSEN2	80746	broad.mit.edu	37	3	12545146	12545146	+	Missense_Mutation	SNP	C	C	T	rs553531943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12545146C>T	ENST00000284995.6	+	5	1081	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	TSEN2_ENST00000314571.7_Missense_Mutation_p.R232C|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000415684.1_Missense_Mutation_p.R232C|TSEN2_ENST00000444864.1_Missense_Mutation_p.R232C|TSEN2_ENST00000402228.3_Missense_Mutation_p.R232C|TSEN2_ENST00000383797.5_Missense_Mutation_p.R232C|TSEN2_ENST00000454502.2_Splice_Site_p.R173C	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	232					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CATCCTCCAGCGTGGCCTTCA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18917	0.0		0.0	False		,,,				2504	0.0					ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(694-696)Cgt>Tgt		TSEN2 tRNA splicing endonuclease subunit							51.0	46.0	48.0					3																	12545146		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12545146C>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.694C>T	3.37:g.12545146C>T	ENSP00000284995:p.Arg232Cys					TSEN2_ENST00000402228.3_Missense_Mutation_p.R232C|TSEN2_ENST00000314571.7_Missense_Mutation_p.R232C|TSEN2_ENST00000383797.5_Missense_Mutation_p.R232C|TSEN2_ENST00000284995.6_Missense_Mutation_p.R232C|TSEN2_ENST00000415684.1_Missense_Mutation_p.R232C|TSEN2_ENST00000454502.2_Splice_Site_p.R173_splice	p.R232C	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			5	1081	+			232					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.694C>T	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	C	6.889	0.533434	0.13188	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.56444	0.61;0.64;0.46;0.59;0.61;0.61;0.63;0.64	4.98	-9.97	0.00440	.	1.462330	0.03726	N	0.252610	T	0.21590	0.0520	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38693	-0.9649	10	0.34782	T	0.22	2.2743	7.748	0.28879	0.0807:0.464:0.3361:0.1193	.	232;232;232;173	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	C	232;232;173;232;232;232;232;205;232	ENSP00000406238:R232C;ENSP00000323188:R232C;ENSP00000392029:R173C;ENSP00000373307:R232C;ENSP00000385976:R232C;ENSP00000284995:R232C;ENSP00000407974:R232C;ENSP00000416510:R232C	ENSP00000284995:R232C	R	+	1	0	TSEN2	12520146	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.604000	0.00890	-3.829000	0.00102	-1.345000	0.01243	CGT		0.582	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		9	7	0	0	0	1	0	9	7				
BOD1L1	259282	broad.mit.edu	37	4	13605908	13605908	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13605908C>T	ENST00000040738.5	-	10	2751	c.2616G>A	c.(2614-2616)tcG>tcA	p.S872S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	872	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										ACTTATCTTCCGAATAACTTT	0.378																																						ENST00000040738.5																			0											c.(2614-2616)tcG>tcA		biorientation of chromosomes in cell division 1-like 1							108.0	106.0	107.0					4																	13605908		2201	4300	6501	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13605908C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2616G>A	4.37:g.13605908C>T							p.S872S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2751	-			872			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.2616G>A	CCDS3411.2																																																																																				0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		27	43	0	0	0	1	0	27	43				
SPTBN2	6712	broad.mit.edu	37	11	66466163	66466163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66466163C>T	ENST00000533211.1	-	20	4292	c.3961G>A	c.(3961-3963)Gca>Aca	p.A1321T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1321T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1321T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1321					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCATGAATGCCTGGTGCTTC	0.597																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3961-3963)Gca>Aca		spectrin, beta, non-erythrocytic 2							103.0	95.0	97.0					11																	66466163		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466163C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3961G>A	11.37:g.66466163C>T	ENSP00000432568:p.Ala1321Thr					SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1321T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1321T	p.A1321T			O15020	SPTN2_HUMAN			20	4292	-			1321					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3961G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398216	0.96030	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52526	0.66;0.66;0.66	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74396	-0.3679	10	0.49607	T	0.09	.	16.6316	0.85035	0.0:1.0:0.0:0.0	.	1321	O15020	SPTN2_HUMAN	T	1321	ENSP00000432568:A1321T;ENSP00000311489:A1321T;ENSP00000433593:A1321T	ENSP00000311489:A1321T	A	-	1	0	SPTBN2	66222739	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.604000	0.82830	2.445000	0.82738	0.655000	0.94253	GCA		0.597	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		26	50	0	0	0	1	0	26	50				
PIGO	84720	broad.mit.edu	37	9	35091816	35091816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35091816G>A	ENST00000378617.3	-	7	2462	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R690C|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	690					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTACCATAGCGGCGAAGCCAC	0.602																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2068-2070)Cgc>Tgc		phosphatidylinositol glycan anchor biosynthesis, class O							29.0	31.0	30.0					9																	35091816		2201	4297	6498	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091816G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2068C>T	9.37:g.35091816G>A	ENSP00000367880:p.Arg690Cys					PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R690C	p.R690C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2462	-			690					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2068C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	9.093	1.002107	0.19121	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56103	0.48;0.48	5.44	3.63	0.41609	.	0.334229	0.35013	N	0.003504	T	0.39655	0.1086	L	0.31294	0.92	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16897	-1.0387	10	0.38643	T	0.18	-13.7759	11.9642	0.53025	0.1394:0.0:0.8606:0.0	.	690	Q8TEQ8	PIGO_HUMAN	C	690	ENSP00000367880:R690C;ENSP00000339382:R690C	ENSP00000339382:R690C	R	-	1	0	PIGO	35081816	1.000000	0.71417	0.953000	0.39169	0.258000	0.26162	5.577000	0.67444	0.877000	0.35895	0.655000	0.94253	CGC		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		13	15	0	0	0	1	0	13	15				
CIC	23152	broad.mit.edu	37	19	42797203	42797203	+	Missense_Mutation	SNP	G	G	A	rs202242046		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797203G>A	ENST00000575354.2	+	15	3605	c.3565G>A	c.(3565-3567)Gtg>Atg	p.V1189M	CIC_ENST00000160740.3_Missense_Mutation_p.V1187M|CIC_ENST00000572681.2_Missense_Mutation_p.V2096M	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1189	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1189L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCATTCCCGTGGGGTCCTT	0.672			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.V1189L(1)	lung(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6286-6288)Gtg>Atg		capicua transcriptional repressor		G	MET/VAL	0,4352		0,0,2176	16.0	19.0	18.0		3565	4.0	1.0	19		18	1,8489		0,1,4244	no	missense	CIC	NM_015125.3	21	0,1,6420	AA,AG,GG		0.0118,0.0,0.0078	benign	1189/1609	42797203	1,12841	2176	4245	6421	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797203G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3565G>A	19.37:g.42797203G>A	ENSP00000458663:p.Val1189Met					CIC_ENST00000160740.3_Missense_Mutation_p.V1187M|CIC_ENST00000575354.2_Missense_Mutation_p.V1189M	p.V2096M			Q96RK0	CIC_HUMAN			16	6354	+		Prostate(69;0.00682)	1189					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.6286G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110933	0.56398	0.0	1.18E-4	ENSG00000079432	ENST00000160740	.	.	.	5.07	3.95	0.45737	.	.	.	.	.	T	0.56761	0.2007	N	0.19112	0.55	0.36407	D	0.863474	D	0.89917	1.0	D	0.83275	0.996	T	0.65874	-0.6062	8	0.87932	D	0	-11.2068	12.3065	0.54906	0.0:0.0:0.83:0.1699	.	1189	Q96RK0	CIC_HUMAN	M	1189	.	ENSP00000160740:V1189M	V	+	1	0	CIC	47489043	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	6.080000	0.71299	2.537000	0.85549	0.491000	0.48974	GTG		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	11	0	0	0	1	0	9	11				
F3	2152	broad.mit.edu	37	1	94998763	94998763	+	Silent	SNP	G	G	A	rs201743958		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94998763G>A	ENST00000334047.7	-	4	637	c.474C>T	c.(472-474)acC>acT	p.T158T	F3_ENST00000370207.4_Silent_p.T158T|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	158					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CATCTTCTACGGTCACATTCA	0.398																																					Melanoma(40;358 1339 15970 39161)	ENST00000334047.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14						c.(472-474)acC>acT		coagulation factor III (thromboplastin, tissue factor)	Coagulation factor VIIa(DB00036)						128.0	113.0	118.0					1																	94998763		2203	4300	6503	SO:0001819	synonymous_variant	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:94998763G>A	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.474C>T	1.37:g.94998763G>A						F3_ENST00000370207.4_Silent_p.T158T|F3_ENST00000480356.1_5'UTR	p.T158T	NM_001993.4	NP_001984.1	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	4	637	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	158					D3DT47|Q6FHG2|Q86WH4	Silent	SNP	ENST00000334047.7	37	c.474C>T	CCDS750.1																																																																																				0.398	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		5	104	0	0	0	1	0	5	104				
FILIP1	27145	broad.mit.edu	37	6	76018573	76018573	+	Missense_Mutation	SNP	C	C	T	rs147152005	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76018573C>T	ENST00000237172.7	-	6	3806	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	FILIP1_ENST00000370020.1_Missense_Mutation_p.R1060H|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1159H|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1159										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CATAGGAATGCGGGTGGGTGT	0.507																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3475-3477)cGc>cAc		filamin A interacting protein 1		C	HIS/ARG	0,4406		0,0,2203	100.0	98.0	99.0		3476	5.9	1.0	6	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FILIP1	NM_015687.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1159/1214	76018573	3,13003	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76018573C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3476G>A	6.37:g.76018573C>T	ENSP00000237172:p.Arg1159His					FILIP1_ENST00000370020.1_Missense_Mutation_p.R1060H|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1159H	p.R1159H			Q7Z7B0	FLIP1_HUMAN			6	3697	-			1159					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3476G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818561	0.90790	0.0	3.49E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.34859	1.37;1.34;1.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.988	T	0.51301	-0.8723	10	0.56958	D	0.05	-13.919	20.2896	0.98541	0.0:1.0:0.0:0.0	.	1159;1159;1159	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	H	1159;1159;1060	ENSP00000376728:R1159H;ENSP00000237172:R1159H;ENSP00000359037:R1060H	ENSP00000237172:R1159H	R	-	2	0	FILIP1	76075293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.794000	0.96219	0.655000	0.94253	CGC		0.507	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		5	66	0	0	0	1	0	5	66				
XPO7	23039	broad.mit.edu	37	8	21848376	21848376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21848376C>T	ENST00000252512.9	+	18	2087	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	XPO7_ENST00000433566.4_Missense_Mutation_p.R664W|XPO7_ENST00000434536.1_Missense_Mutation_p.R672W	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	663					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACAGACATGCGGTGTCGGAC	0.418																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2014-2016)Cgg>Tgg		exportin 7							227.0	220.0	222.0					8																	21848376		1891	4115	6006	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21848376C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1987C>T	8.37:g.21848376C>T	ENSP00000252512:p.Arg663Trp					XPO7_ENST00000252512.9_Missense_Mutation_p.R663W|XPO7_ENST00000433566.4_Missense_Mutation_p.R664W	p.R672W			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	18	2116	+			663					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2014C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535254	0.64972	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66995	-0.24;-0.24;-0.24	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.87180	2.865	0.80722	D	1	P;P;P	0.43607	0.72;0.812;0.812	B;B;B	0.40038	0.168;0.317;0.317	T	0.78043	-0.2358	10	0.66056	D	0.02	-20.2986	14.7535	0.69546	0.1801:0.8199:0.0:0.0	.	664;672;663	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	W	672;663;664	ENSP00000404853:R672W;ENSP00000252512:R663W;ENSP00000410249:R664W	ENSP00000252512:R663W	R	+	1	2	XPO7	21904322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.574000	0.36482	2.819000	0.97034	0.650000	0.86243	CGG		0.418	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		7	232	0	0	0	1	0	7	232				
IGF2R	3482	broad.mit.edu	37	6	160483581	160483581	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160483581G>T	ENST00000356956.1	+	26	3748	c.3600G>T	c.(3598-3600)caG>caT	p.Q1200H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1200					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CAGCATTTCAGCTTCAGGATG	0.473																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3598-3600)caG>caT		insulin-like growth factor 2 receptor							133.0	116.0	122.0					6																	160483581		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160483581G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3600G>T	6.37:g.160483581G>T	ENSP00000349437:p.Gln1200His						p.Q1200H	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	26	3748	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1200					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3600G>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765547	0.31228	.	.	ENSG00000197081	ENST00000356956	T	0.03860	3.78	4.82	3.93	0.45458	Mannose-6-phosphate receptor, binding (1);	0.119417	0.56097	D	0.000028	T	0.11281	0.0275	M	0.83852	2.665	0.33808	D	0.627458	D	0.65815	0.995	D	0.66497	0.944	T	0.00331	-1.1811	10	0.66056	D	0.02	-6.7877	8.4118	0.32648	0.1723:0.0:0.8277:0.0	.	1200	P11717	MPRI_HUMAN	H	1200	ENSP00000349437:Q1200H	ENSP00000349437:Q1200H	Q	+	3	2	IGF2R	160403571	0.977000	0.34250	0.886000	0.34754	0.034000	0.12701	0.533000	0.23082	2.384000	0.81235	0.557000	0.71058	CAG		0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		9	30	1	0	9.70103e-10	1	1.18443e-09	9	30				
PAM	5066	broad.mit.edu	37	5	102296885	102296885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102296885C>T	ENST00000438793.3	+	13	1584	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	PAM_ENST00000304400.7_Missense_Mutation_p.P372S|PAM_ENST00000274392.9_Missense_Mutation_p.P275S|PAM_ENST00000348126.2_Missense_Mutation_p.P372S|PAM_ENST00000346918.2_Missense_Mutation_p.P372S|PAM_ENST00000455264.2_Missense_Mutation_p.P372S|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	372	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGATAAGATTCCTTTACTACA	0.313																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1114-1116)Cct>Tct		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						94.0	100.0	98.0					5																	102296885		2203	4299	6502	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102296885C>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1114C>T	5.37:g.102296885C>T	ENSP00000396493:p.Pro372Ser					PAM_ENST00000455264.2_Missense_Mutation_p.P372S|PAM_ENST00000348126.2_Missense_Mutation_p.P372S|PAM_ENST00000274392.9_Missense_Mutation_p.P275S|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.P372S|PAM_ENST00000304400.7_Missense_Mutation_p.P372S	p.P372S	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	13	1584	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	372			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.1114C>T	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.004|0.004	-2.254934|-2.254934	0.00265|0.00265	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264;ENST00000432578|ENST00000379799	T;T;T;T;T;T|.	0.58652|.	1.23;1.06;1.02;1.23;0.32;1.06|.	5.4|5.4	0.592|0.592	0.17471|0.17471	.|.	0.717321|.	0.14704|.	N|.	0.303387|.	T|T	0.08935|0.08935	0.0221|0.0221	N|N	0.02802|0.02802	-0.49|-0.49	0.09310|0.09310	N|N	0.999995|0.999995	B;B;B;B;B;B;B|.	0.06786|.	0.0;0.001;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B|.	0.08055|.	0.001;0.003;0.001;0.002;0.002;0.002;0.002|.	T|T	0.27262|0.27262	-1.0079|-1.0079	10|5	0.07990|.	T|.	0.79|.	.|.	0.3439|0.3439	0.00338|0.00338	0.2222:0.1802:0.2012:0.3964|0.2222:0.1802:0.2012:0.3964	.|.	275;34;372;372;372;372;372|.	F8WE90;Q13749;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;.;AMD_HUMAN;.;.;.;.|.	S|F	372;372;372;372;275;372;15|144	ENSP00000396493:P372S;ENSP00000282992:P372S;ENSP00000314638:P372S;ENSP00000306100:P372S;ENSP00000274392:P275S;ENSP00000403461:P372S|.	ENSP00000274392:P275S|.	P|S	+|+	1|2	0|0	PAM|PAM	102324784|102324784	0.006000|0.006000	0.16342|0.16342	0.065000|0.065000	0.19835|0.19835	0.127000|0.127000	0.20565|0.20565	1.103000|1.103000	0.31062|0.31062	0.155000|0.155000	0.19261|0.19261	0.555000|0.555000	0.69702|0.69702	CCT|TCC		0.313	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		13	43	0	0	0	1	0	13	43				
PDE1B	5153	broad.mit.edu	37	12	54966424	54966424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54966424G>A	ENST00000243052.3	+	7	1070	c.634G>A	c.(634-636)Gag>Aag	p.E212K	PDE1B_ENST00000538346.1_Missense_Mutation_p.E171K|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.E192K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	212	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GGATGCCTTGGAGACAGGCTA	0.498																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(634-636)Gag>Aag		phosphodiesterase 1B, calmodulin-dependent							455.0	445.0	448.0					12																	54966424		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54966424G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.634G>A	12.37:g.54966424G>A	ENSP00000243052:p.Glu212Lys					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.E192K|PDE1B_ENST00000538346.1_Missense_Mutation_p.E171K	p.E212K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			7	1070	+			212			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.634G>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303230	0.95601	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.72615	-0.67;-0.64;-0.66	4.69	4.69	0.59074	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.117942	0.56097	D	0.000040	D	0.83362	0.5238	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.974;0.999	D;D	0.70016	0.927;0.967	D	0.85626	0.1267	10	0.87932	D	0	.	15.4983	0.75673	0.0:0.0:1.0:0.0	.	192;212	Q01064-2;Q01064	.;PDE1B_HUMAN	K	212;171;192	ENSP00000243052:E212K;ENSP00000442559:E171K;ENSP00000448519:E192K	ENSP00000243052:E212K	E	+	1	0	PDE1B	53252691	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.486000	0.97944	2.603000	0.88011	0.655000	0.94253	GAG		0.498	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			257	394	0	0	0	1	0	257	394				
NUP133	55746	broad.mit.edu	37	1	229623232	229623232	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229623232T>C	ENST00000261396.3	-	10	1414	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	NUP133_ENST00000537506.1_Silent_p.K425K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	441					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAAAGACAATTTTCTCCTGGG	0.413																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1321-1323)aaA>aaG		nucleoporin 133kDa							103.0	104.0	104.0					1																	229623232		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229623232T>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1323A>G	1.37:g.229623232T>C						NUP133_ENST00000537506.1_Silent_p.K425K|NUP133_ENST00000366679.1_Silent_p.K441K	p.K441K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			10	1414	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	441					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.1323A>G	CCDS1579.1																																																																																				0.413	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		13	116	0	0	0	1	0	13	116				
TSPAN31	6302	broad.mit.edu	37	12	58139594	58139594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58139594C>A	ENST00000257910.3	+	2	404	c.130C>A	c.(130-132)Cac>Aac	p.H44N	TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000547992.1_Missense_Mutation_p.H44N	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	44					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTCCAGCATCCACATCATCGG	0.537																																						ENST00000547992.1																			0				endometrium(1)|kidney(1)|lung(5)	7						c.(130-132)Cac>Aac		tetraspanin 31							167.0	144.0	152.0					12																	58139594		2203	4300	6503	SO:0001583	missense	0				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58139594C>A		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.130C>A	12.37:g.58139594C>A	ENSP00000257910:p.His44Asn					TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000257910.3_Missense_Mutation_p.H44N|TSPAN31_ENST00000553221.1_3'UTR	p.H44N			Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	262	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		44					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.130C>A	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870933	0.72065	.	.	ENSG00000135452	ENST00000257910;ENST00000547992	T	0.79141	-1.24	4.57	4.57	0.56435	.	0.059117	0.64402	D	0.000002	T	0.77961	0.4209	M	0.62723	1.935	0.80722	D	1	B;B	0.26708	0.13;0.157	B;B	0.36719	0.021;0.231	T	0.73084	-0.4094	10	0.20046	T	0.44	-0.8166	16.6554	0.85227	0.0:1.0:0.0:0.0	.	44;44	F8VS78;Q12999	.;TSN31_HUMAN	N	44	ENSP00000257910:H44N	ENSP00000257910:H44N	H	+	1	0	TSPAN31	56425861	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.198000	0.42705	2.539000	0.85634	0.460000	0.39030	CAC		0.537	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			7	111	1	0	0.0293803	1	0.0301098	7	111				
COL28A1	340267	broad.mit.edu	37	7	7476095	7476095	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7476095C>A	ENST00000399429.3	-	23	1932		c.e23-1			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTATCTCCCTGTACATTTC	0.398																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.e23-1		collagen, type XXVIII, alpha 1							108.0	104.0	105.0					7																	7476095		1854	4108	5962	SO:0001630	splice_region_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7476095C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1792-1G>T	7.37:g.7476095C>A								NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	23	1932	-		Ovarian(82;0.0789)						A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Splice_Site	SNP	ENST00000399429.3	37		CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120323	0.56613	.	.	ENSG00000215018	ENST00000399429;ENST00000435823;ENST00000399419	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0802	0.59109	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL28A1	7442620	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.458000	0.53014	2.577000	0.86979	0.591000	0.81541	.		0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	Intron	19	65	1	0	7.45023e-12	1	9.32672e-12	19	65				
CSGALNACT1	55790	broad.mit.edu	37	8	19316023	19316023	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19316023C>T	ENST00000454498.2	-	5	1778	c.765G>A	c.(763-765)aaG>aaA	p.K255K	CSGALNACT1_ENST00000522854.1_Silent_p.K255K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.K255K|CSGALNACT1_ENST00000544602.1_Silent_p.K255K|CSGALNACT1_ENST00000311540.4_Silent_p.K255K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	255					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCATGTTGAGCTTTTCATTTT	0.448																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(763-765)aaG>aaA		chondroitin sulfate N-acetylgalactosaminyltransferase 1							370.0	340.0	350.0					8																	19316023		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316023C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.765G>A	8.37:g.19316023C>T						CSGALNACT1_ENST00000544602.1_Silent_p.K255K|CSGALNACT1_ENST00000332246.6_Silent_p.K255K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.K255K|CSGALNACT1_ENST00000522854.1_Silent_p.K255K	p.K255K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1778	-			255					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.765G>A	CCDS6010.1																																																																																				0.448	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		31	262	0	0	0	1	0	31	262				
TBC1D10B	26000	broad.mit.edu	37	16	30370615	30370615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30370615C>T	ENST00000409939.3	-	7	1600	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	507	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCGCAGGTGGCGATGCGCCAG	0.652																																						ENST00000409939.3																			0				endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(1519-1521)cGc>cAc		TBC1 domain family, member 10B							19.0	19.0	19.0					16																	30370615		2195	4293	6488	SO:0001583	missense	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30370615C>T	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1520G>A	16.37:g.30370615C>T	ENSP00000386538:p.Arg507His						p.R507H	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		7	1600	-			507			Rab-GAP TBC.		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	c.1520G>A	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153308	0.57259	.	.	ENSG00000169221	ENST00000409939	T	0.11712	2.75	4.79	4.79	0.61399	Rab-GAP/TBC domain (5);	0.000000	0.64402	D	0.000001	T	0.29028	0.0721	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00780	-1.1569	10	0.56958	D	0.05	.	16.7512	0.85487	0.0:1.0:0.0:0.0	.	507	Q4KMP7	TB10B_HUMAN	H	507	ENSP00000386538:R507H	ENSP00000386538:R507H	R	-	2	0	TBC1D10B	30278116	0.994000	0.37717	0.992000	0.48379	0.147000	0.21601	3.125000	0.50469	2.507000	0.84556	0.462000	0.41574	CGC		0.652	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		8	3	0	0	0	1	0	8	3				
OR2L2	26246	broad.mit.edu	37	1	248202053	248202053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248202053G>A	ENST00000366479.2	+	1	580	c.484G>A	c.(484-486)Gca>Aca	p.A162T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACAGTATATGCACTCTGTAT	0.428																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(484-486)Gca>Aca		olfactory receptor, family 2, subfamily L, member 2							192.0	174.0	180.0					1																	248202053		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202053G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.484G>A	1.37:g.248202053G>A	ENSP00000355435:p.Ala162Thr					OR2L13_ENST00000366478.2_Intron	p.A162T	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	580	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		162					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.484G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.855124	0.00558	.	.	ENSG00000203663	ENST00000366479	T	0.00020	9.04	1.9	-0.288	0.12855	GPCR, rhodopsin-like superfamily (1);	0.524804	0.14164	U	0.337168	T	0.00039	0.0001	N	0.04335	-0.225	0.09310	N	1	B	0.18863	0.031	B	0.22152	0.038	T	0.18524	-1.0334	10	0.02654	T	1	.	6.6777	0.23103	0.5222:0.0:0.4778:0.0	.	162	Q8NH16	OR2L2_HUMAN	T	162	ENSP00000355435:A162T	ENSP00000355435:A162T	A	+	1	0	OR2L2	246268676	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-2.549000	0.00930	0.037000	0.15575	0.194000	0.17425	GCA		0.428	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		16	180	0	0	0	1	0	16	180				
LGALS3BP	3959	broad.mit.edu	37	17	76967788	76967788	+	Missense_Mutation	SNP	G	G	A	rs150793355		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76967788G>A	ENST00000262776.3	-	6	1936	c.1628C>T	c.(1627-1629)gCg>gTg	p.A543V	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	543					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACTGGGAATCGCAGCCTTCCA	0.622											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		19320	0.0		0.0	False		,,,				2504	0.0				GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1627-1629)gCg>gTg		lectin, galactoside-binding, soluble, 3 binding protein		G	VAL/ALA	0,4406		0,0,2203	75.0	70.0	71.0		1628	-1.4	0.0	17	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGALS3BP	NM_005567.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	543/586	76967788	1,13005	2203	4300	6503	SO:0001583	missense	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967788G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1628C>T	17.37:g.76967788G>A	ENSP00000262776:p.Ala543Val		OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.A543V	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1936	-			543					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	c.1628C>T	CCDS11759.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.243	-1.011896	0.02095	0.0	1.16E-4	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01279	5.06	3.51	-1.37	0.09056	.	1.355360	0.05788	N	0.609845	T	0.00468	0.0015	N	0.00729	-1.24	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.45483	-0.9258	10	0.02654	T	1	-0.0211	2.8705	0.05615	0.4629:0.0:0.3327:0.2044	.	543	Q08380	LG3BP_HUMAN	V	543;531	ENSP00000262776:A543V	ENSP00000262776:A543V	A	-	2	0	LGALS3BP	74479383	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.034000	0.13776	-0.214000	0.10078	-0.277000	0.10078	GCG		0.622	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		22	28	0	0	0	1	0	22	28				
RARB	5915	broad.mit.edu	37	3	25636123	25636123	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25636123A>G	ENST00000404969.1	+	7	1125	c.1125A>G	c.(1123-1125)ccA>ccG	p.P375P	RARB_ENST00000330688.4_Silent_p.P368P|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.P256P|RARB_ENST00000437042.2_Silent_p.P256P			P10826	RARB_HUMAN	retinoic acid receptor, beta	375	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACATGTTTCCAAAGATCTTAA	0.418																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(1102-1104)ccA>ccG		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						115.0	110.0	112.0					3																	25636123		2203	4300	6503	SO:0001819	synonymous_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25636123A>G	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1125A>G	3.37:g.25636123A>G						RARB_ENST00000437042.2_Silent_p.P256P|RARB_ENST00000458646.1_Silent_p.P256P|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Silent_p.P375P	p.P368P	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			7	1525	+			375			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Silent	SNP	ENST00000404969.1	37	c.1104A>G																																																																																					0.418	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		3	88	0	0	0	1	0	3	88				
PIK3R6	146850	broad.mit.edu	37	17	8736358	8736358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8736358C>T	ENST00000311434.9	-	9	889	c.650G>A	c.(649-651)aGc>aAc	p.S217N	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	217					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GCGGCGAGGGCTGGCCTGTTG	0.701																																						ENST00000311434.9																			0											c.(649-651)aGc>aAc		phosphoinositide-3-kinase, regulatory subunit 6							11.0	15.0	14.0					17																	8736358		1973	4118	6091	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8736358C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.650G>A	17.37:g.8736358C>T	ENSP00000475670:p.Ser217Asn					PIK3R6_ENST00000434064.2_5'UTR	p.S217N	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			9	889	-			217					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.650G>A																																																																																					0.701	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		4	8	0	0	0	1	0	4	8				
FAM208B	54906	broad.mit.edu	37	10	5803400	5803400	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5803400G>A	ENST00000328090.5	+	19	7765	c.7140G>A	c.(7138-7140)caG>caA	p.Q2380Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2380																	TGCAAATTCAGCATATTGATG	0.383																																						ENST00000328090.5																			0											c.(7138-7140)caG>caA		family with sequence similarity 208, member B							121.0	111.0	114.0					10																	5803400		1884	4113	5997	SO:0001819	synonymous_variant	54906							g.chr10:5803400G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7140G>A	10.37:g.5803400G>A							p.Q2380Q	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			19	7765	+			2380					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.7140G>A	CCDS41485.1																																																																																				0.383	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		13	100	0	0	0	1	0	13	100				
ANGPTL1	9068	broad.mit.edu	37	1	178822899	178822899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178822899C>T	ENST00000234816.2	-	4	1294	c.847G>A	c.(847-849)Gca>Aca	p.A283T	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.A283T|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	283	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCTTCTTTTGCTTGCTGACAG	0.343																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(847-849)Gca>Aca		angiopoietin-like 1							88.0	85.0	86.0					1																	178822899		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178822899C>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.847G>A	1.37:g.178822899C>T	ENSP00000234816:p.Ala283Thr					ANGPTL1_ENST00000367629.1_Missense_Mutation_p.A283T|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron	p.A283T	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			4	1294	-			283			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.847G>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699085	0.96802	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.81415	-1.49;-1.49	6.16	6.16	0.99307	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.106561	0.64402	D	0.000004	D	0.88239	0.6383	L	0.57536	1.79	0.58432	D	0.999999	D	0.69078	0.997	D	0.70487	0.969	D	0.85048	0.0927	10	0.35671	T	0.21	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	283	O95841	ANGL1_HUMAN	T	283;283;247	ENSP00000234816:A283T;ENSP00000356601:A283T	ENSP00000234816:A283T	A	-	1	0	ANGPTL1	177089522	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCA		0.343	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		26	74	0	0	0	1	0	26	74				
ATP5G2	517	broad.mit.edu	37	12	54062936	54062936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54062936C>T	ENST00000549164.1	-	4	494	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	ATP5G2_ENST00000602871.1_Missense_Mutation_p.A103T|ATP5G2_ENST00000394349.3_Missense_Mutation_p.A160T|ATP5G2_ENST00000338662.5_Missense_Mutation_p.A119T|ATP5G2_ENST00000550241.1_5'UTR			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	103					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TCTTACCTGGCATAACCAATG	0.498																																						ENST00000338662.5																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(355-357)Gcc>Acc		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)							81.0	79.0	80.0					12																	54062936		2203	4300	6503	SO:0001583	missense	517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54062936C>T	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.307G>A	12.37:g.54062936C>T	ENSP00000447317:p.Ala103Thr					ATP5G2_ENST00000394349.3_Missense_Mutation_p.A160T|ATP5G2_ENST00000549164.1_Missense_Mutation_p.A103T|ATP5G2_ENST00000602871.1_Missense_Mutation_p.A103T|ATP5G2_ENST00000550241.1_5'UTR	p.A119T	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN			4	1560	-			103					B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	37	c.355G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.498242	0.96355	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.56611	0.45;0.45;0.45	5.14	5.14	0.70334	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.92604	3.325	0.58432	D	0.999999	P;P;P	0.47302	0.612;0.622;0.893	B;B;P	0.49752	0.3;0.253;0.621	T	0.79184	-0.1908	10	0.59425	D	0.04	.	17.9104	0.88932	0.0:1.0:0.0:0.0	.	103;119;160	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	T	160;103;119	ENSP00000377878:A160T;ENSP00000447317:A103T;ENSP00000340315:A119T	ENSP00000340315:A119T	A	-	1	0	ATP5G2	52349203	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.528000	0.81941	2.847000	0.97988	0.655000	0.94253	GCC		0.498	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		12	45	0	0	0	1	0	12	45				
TOR1AIP1	26092	broad.mit.edu	37	1	179887200	179887200	+	Missense_Mutation	SNP	G	G	T	rs534585368		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887200G>T	ENST00000606911.2	+	10	1769	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.K527N|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.K405N|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.K542N			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	526	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TAGGCCTAAAGGAAGTTGAAG	0.408																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1576-1578)aaG>aaT		torsin A interacting protein 1							82.0	83.0	82.0					1																	179887200		2203	4300	6503	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179887200G>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1578G>T	1.37:g.179887200G>T	ENSP00000476687:p.Lys526Asn					TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.K542N	p.K526N	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			10	1769	+			526					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.1578G>T	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.14|16.14	3.039161|3.039161	0.55003|0.55003	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000325993;ENST00000271583;ENST00000435319|ENST00000447964	T;T|.	0.28666|.	1.6;1.6|.	5.96|5.96	3.1|3.1	0.35709|0.35709	.|.	0.196730|.	0.53938|.	D|.	0.000048|.	T|T	0.57036|0.57036	0.2026|0.2026	L|L	0.61387|0.61387	1.9|1.9	0.33858|0.33858	D|D	0.633478|0.633478	D|.	0.89917|.	1.0|.	D|.	0.77557|.	0.99|.	T|T	0.64206|0.64206	-0.6462|-0.6462	9|5	.|.	.|.	.|.	-19.8947|-19.8947	10.0978|10.0978	0.42486|0.42486	0.2753:0.0:0.7247:0.0|0.2753:0.0:0.7247:0.0	.|.	526|.	Q5JTV8|.	TOIP1_HUMAN|.	N|M	321;542;526|261	ENSP00000271583:K542N;ENSP00000393292:K526N|.	.|.	K|R	+|+	3|2	2|0	TOR1AIP1|TOR1AIP1	178153823|178153823	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.298000|0.298000	0.19120|0.19120	0.424000|0.424000	0.26061|0.26061	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.408	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		42	46	1	0	4.17593e-13	1	5.28688e-13	42	46				
SRP72	6731	broad.mit.edu	37	4	57340537	57340537	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57340537A>G	ENST00000342756.5	+	5	1311	c.590A>G	c.(589-591)aAa>aGa	p.K197R	SRP72_ENST00000510663.1_Missense_Mutation_p.K197R|SRP72_ENST00000504757.1_Missense_Mutation_p.K197R	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	197					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCCATGAAAATCCTACAA	0.428																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(589-591)aAa>aGa		signal recognition particle 72kDa							76.0	77.0	76.0					4																	57340537		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340537A>G	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.590A>G	4.37:g.57340537A>G	ENSP00000342181:p.Lys197Arg					SRP72_ENST00000510663.1_Missense_Mutation_p.K197R|SRP72_ENST00000504757.1_Missense_Mutation_p.K197R	p.K197R	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			5	1311	+	Glioma(25;0.08)|all_neural(26;0.101)		197					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.590A>G	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	A	8.359	0.832592	0.16820	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	D;T	0.94232	-3.38;1.16	5.8	4.62	0.57501	Tetratricopeptide-like helical (1);	0.232646	0.51477	N	0.000094	D	0.87277	0.6137	L	0.43152	1.355	0.21020	N	0.99981	B;B;P	0.44627	0.001;0.416;0.839	B;B;B	0.38921	0.004;0.285;0.218	T	0.77493	-0.2567	10	0.21014	T	0.42	.	6.2096	0.20621	0.7571:0.1611:0.0817:0.0	.	197;197;197	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	R	197;203;197;2	ENSP00000342181:K197R;ENSP00000424576:K197R	ENSP00000342181:K197R	K	+	2	0	SRP72	57035294	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	4.282000	0.58971	1.022000	0.39626	0.528000	0.53228	AAA		0.428	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			30	46	0	0	0	1	0	30	46				
MTA2	9219	broad.mit.edu	37	11	62365511	62365511	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62365511C>A	ENST00000278823.2	-	6	864	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	159	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ACTAGGCGATCTGGGATCTCA	0.478																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(475-477)Gat>Tat		metastasis associated 1 family, member 2							160.0	155.0	157.0					11																	62365511		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62365511C>A	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.475G>T	11.37:g.62365511C>A	ENSP00000278823:p.Asp159Tyr					MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	p.D159Y	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			6	864	-			159			ELM2.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.475G>T	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570978	0.86542	.	.	ENSG00000149480	ENST00000278823	T	0.35605	1.3	5.73	4.82	0.62117	ELM2 domain (2);	0.145479	0.64402	D	0.000013	T	0.45074	0.1324	M	0.73598	2.24	0.80722	D	1	P	0.35908	0.527	B	0.41619	0.361	T	0.49322	-0.8952	10	0.72032	D	0.01	-16.1118	12.2727	0.54716	0.0:0.9181:0.0:0.0819	.	159	O94776	MTA2_HUMAN	Y	159	ENSP00000278823:D159Y	ENSP00000278823:D159Y	D	-	1	0	MTA2	62122087	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.792000	0.85828	1.432000	0.47375	0.655000	0.94253	GAT		0.478	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		9	212	1	0	0.000673444	1	0.000724755	9	212				
CEP170B	283638	broad.mit.edu	37	14	105353630	105353630	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105353630G>A	ENST00000414716.3	+	12	3282	c.3054G>A	c.(3052-3054)acG>acA	p.T1018T	CEP170B_ENST00000453495.1_Silent_p.T1019T|CEP170B_ENST00000418279.1_Silent_p.T948T|CEP170B_ENST00000556508.1_Silent_p.T948T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1018						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TTGGCCCGACGGACATGGGCC	0.697																																						ENST00000453495.1																			0											c.(3055-3057)acG>acA		centrosomal protein 170B							10.0	14.0	13.0					14																	105353630		2033	4164	6197	SO:0001819	synonymous_variant	283638							g.chr14:105353630G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3054G>A	14.37:g.105353630G>A						CEP170B_ENST00000418279.1_Silent_p.T948T|CEP170B_ENST00000556508.1_Silent_p.T948T|CEP170B_ENST00000414716.3_Silent_p.T1018T	p.T1019T							12	3285	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.3057G>A	CCDS45175.1																																																																																				0.697	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	13	0	0	0	1	0	3	13				
ROR1	4919	broad.mit.edu	37	1	64643957	64643957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64643957C>T	ENST00000371079.1	+	9	2608	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	ROR1_ENST00000545203.1_Missense_Mutation_p.R196W	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TATTCACGTCCGGCTTCGGTC	0.522																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(2233-2235)Cgg>Tgg		receptor tyrosine kinase-like orphan receptor 1							59.0	62.0	61.0					1																	64643957		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643957C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2233C>T	1.37:g.64643957C>T	ENSP00000360120:p.Arg745Trp					ROR1_ENST00000545203.1_Missense_Mutation_p.R196W	p.R745W	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2608	+			745			Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.2233C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605047	0.46423	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.62639	0.01;0.01	5.98	4.04	0.47022	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38663	N	0.001609	T	0.77512	0.4141	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83289	-0.0034	10	0.72032	D	0.01	.	15.7168	0.77674	0.4588:0.5412:0.0:0.0	.	745	Q01973	ROR1_HUMAN	W	745;748;196	ENSP00000360120:R745W;ENSP00000441637:R196W	ENSP00000360120:R745W	R	+	1	2	ROR1	64416545	0.994000	0.37717	0.392000	0.26245	0.786000	0.44442	2.985000	0.49362	1.521000	0.48983	0.591000	0.81541	CGG		0.522	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		23	24	0	0	0	1	0	23	24				
IGF2	3481	broad.mit.edu	37	11	2154381	2154381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2154381G>A	ENST00000416167.2	-	4	1545	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	IGF2_ENST00000300632.5_Missense_Mutation_p.R127C|IGF2_ENST00000381389.1_Missense_Mutation_p.R127C|IGF2_ENST00000434045.2_Missense_Mutation_p.R183C|IGF2_ENST00000381392.1_Missense_Mutation_p.R130C|IGF2_ENST00000381406.4_Missense_Mutation_p.R130C|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381395.1_Missense_Mutation_p.R127C|IGF2_ENST00000418738.2_Missense_Mutation_p.R127C			P01344	IGF2_HUMAN	insulin-like growth factor 2	127					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGCCCCTGCGCAGGCGCTGG	0.662																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(379-381)Cgc>Tgc		insulin-like growth factor 2 (somatomedin A)							30.0	29.0	30.0					11																	2154381		2201	4297	6498	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154381G>A	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.379C>T	11.37:g.2154381G>A	ENSP00000414497:p.Arg127Cys					IGF2_ENST00000418738.2_Missense_Mutation_p.R127C|IGF2_ENST00000337883.6_Missense_Mutation_p.R127C|IGF2_ENST00000381406.4_Missense_Mutation_p.R130C|IGF2_ENST00000381389.1_Missense_Mutation_p.R127C|IGF2_ENST00000381395.1_Missense_Mutation_p.R127C|IGF2_ENST00000381392.1_Missense_Mutation_p.R130C|IGF2_ENST00000300632.5_Missense_Mutation_p.R127C|IGF2_ENST00000434045.2_Missense_Mutation_p.R183C	p.R127C			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1545	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	127					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.379C>T	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811090	0.70797	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	2.92	2.92	0.33932	Insulin-like growth factor II E-peptide, C-terminal (2);	0.071892	0.53938	U	0.000047	T	0.75488	0.3856	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79460	-0.1794	10	0.87932	D	0	-13.9465	10.9684	0.47426	0.0:0.0:1.0:0.0	.	183;127	C9JAF2;P01344	.;IGF2_HUMAN	C	127;130;127;127;130;183;130;127;127;127;130	ENSP00000370802:R127C;ENSP00000370813:R130C;ENSP00000414497:R127C;ENSP00000300632:R127C;ENSP00000391826:R183C;ENSP00000370799:R130C;ENSP00000370796:R127C;ENSP00000402047:R127C;ENSP00000338297:R127C	ENSP00000300632:R127C	R	-	1	0	IGF2	2110957	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	5.200000	0.65158	1.648000	0.50643	0.462000	0.41574	CGC		0.662	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		11	14	0	0	0	1	0	11	14				
MAEA	10296	broad.mit.edu	37	4	1332393	1332393	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1332393C>T	ENST00000303400.4	+	8	1146	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	MAEA_ENST00000452175.2_Silent_p.V282V|MAEA_ENST00000505177.2_Silent_p.V399V|MAEA_ENST00000510794.1_Silent_p.V360V|MAEA_ENST00000264750.6_Silent_p.V320V|MAEA_ENST00000514708.1_Silent_p.V293V|MAEA_ENST00000505839.1_Silent_p.V313V|MAEA_ENST00000512289.1_3'UTR	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	361					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	ACGGCTACGTCTACGGCTACA	0.662																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1081-1083)gtC>gtT		macrophage erythroblast attacher							30.0	22.0	25.0					4																	1332393		2201	4300	6501	SO:0001819	synonymous_variant	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1332393C>T	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.1083C>T	4.37:g.1332393C>T						MAEA_ENST00000510794.1_Silent_p.V360V|MAEA_ENST00000505177.2_Silent_p.V399V|MAEA_ENST00000505839.1_Silent_p.V313V|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_Silent_p.V293V|MAEA_ENST00000452175.2_Silent_p.V282V|MAEA_ENST00000264750.6_Silent_p.V320V	p.V361V	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		8	1146	+			361					O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Silent	SNP	ENST00000303400.4	37	c.1083C>T	CCDS33936.1																																																																																				0.662	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		3	9	0	0	0	1	0	3	9				
PRR22	163154	broad.mit.edu	37	19	5783234	5783234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5783234C>T	ENST00000419421.2	-	3	1128	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	342										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						ATCTCAGGCACGCTGTAGTCA	0.647																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(1024-1026)Gtg>Atg		proline rich 22							60.0	59.0	59.0					19																	5783234		2203	4297	6500	SO:0001583	missense	163154							g.chr19:5783234C>T	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.1024G>A	19.37:g.5783234C>T	ENSP00000407653:p.Val342Met						p.V342M	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	1128	-			340					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.1024G>A	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180833	0.57800	.	.	ENSG00000212123	ENST00000419421	T	0.59224	0.28	3.68	2.65	0.31530	.	.	.	.	.	T	0.61324	0.2338	L	0.32530	0.975	0.30377	N	0.78233	D;D	0.89917	0.999;1.0	D;D	0.74674	0.95;0.984	T	0.57705	-0.7765	9	0.59425	D	0.04	-10.9925	6.8568	0.24044	0.0:0.8701:0.0:0.1299	.	342;340	E9PB31;Q8IZ63	.;PRR22_HUMAN	M	342	ENSP00000407653:V342M	ENSP00000407653:V342M	V	-	1	0	PRR22	5734234	0.982000	0.34865	0.996000	0.52242	0.767000	0.43475	2.811000	0.47986	0.753000	0.32945	0.305000	0.20034	GTG		0.647	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		28	45	0	0	0	1	0	28	45				
MYO10	4651	broad.mit.edu	37	5	16702672	16702672	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16702672C>T	ENST00000513610.1	-	24	2990	c.2536G>A	c.(2536-2538)Gcc>Acc	p.A846T	MYO10_ENST00000515803.1_Missense_Mutation_p.A185T|MYO10_ENST00000427430.2_Missense_Mutation_p.A203T|MYO10_ENST00000274203.9_Missense_Mutation_p.A203T|MYO10_ENST00000505695.1_Missense_Mutation_p.A185T|MYO10_ENST00000512061.1_5'Flank	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	846					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGAGCTCGGCTTCTCTTCGC	0.423																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2536-2538)Gcc>Acc		myosin X							56.0	57.0	57.0					5																	16702672		1887	4112	5999	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16702672C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2536G>A	5.37:g.16702672C>T	ENSP00000421280:p.Ala846Thr					MYO10_ENST00000505695.1_Missense_Mutation_p.A185T|MYO10_ENST00000515803.1_Missense_Mutation_p.A185T|MYO10_ENST00000274203.9_Missense_Mutation_p.A203T|MYO10_ENST00000427430.2_Missense_Mutation_p.A203T	p.A846T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			24	2990	-			846					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.2536G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224167	0.39300	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.41065	1.01;1.99;1.99;1.99;1.99	4.73	4.73	0.59995	.	.	.	.	.	T	0.56202	0.1969	L	0.54323	1.7	0.39734	D	0.971654	D;P	0.63880	0.993;0.596	D;B	0.68192	0.956;0.051	T	0.52147	-0.8614	9	0.22706	T	0.39	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	487;846	Q69YP8;Q9HD67	.;MYO10_HUMAN	T	846;185;203;185;203	ENSP00000421280:A846T;ENSP00000425051:A185T;ENSP00000274203:A203T;ENSP00000421170:A185T;ENSP00000391106:A203T	ENSP00000274203:A203T	A	-	1	0	MYO10	16755672	1.000000	0.71417	0.920000	0.36463	0.796000	0.44982	2.943000	0.49026	2.345000	0.79718	0.655000	0.94253	GCC		0.423	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	7	0	0	0	1	0	3	7				
BRWD3	254065	broad.mit.edu	37	X	79932200	79932200	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932200C>A	ENST00000373275.4	-	41	5533	c.5317G>T	c.(5317-5319)Gat>Tat	p.D1773Y	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1773					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCAGAGGATCCTCAGTGGAC	0.393																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(5317-5319)Gat>Tat		bromodomain and WD repeat domain containing 3							77.0	64.0	69.0					X																	79932200		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932200C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5317G>T	X.37:g.79932200C>A	ENSP00000362372:p.Asp1773Tyr						p.D1773Y	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5533	-			1773					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5317G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918660	0.33908	.	.	ENSG00000165288	ENST00000373275	T	0.58210	0.35	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	N	0.19112	0.55	0.58432	D	0.999997	D	0.76494	0.999	D	0.79784	0.993	T	0.57248	-0.7844	9	.	.	.	-12.7146	16.32	0.82945	0.0:1.0:0.0:0.0	.	1773	Q6RI45	BRWD3_HUMAN	Y	1773	ENSP00000362372:D1773Y	.	D	-	1	0	BRWD3	79818856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.882000	0.75589	2.109000	0.64355	0.513000	0.50165	GAT		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		25	32	1	0	3.28513e-13	1	4.1605e-13	25	32				
MICAL3	57553	broad.mit.edu	37	22	18368817	18368817	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18368817C>A	ENST00000441493.2	-	16	2420	c.2068G>T	c.(2068-2070)Gag>Tag	p.E690*	MICAL3_ENST00000383094.3_Splice_Site_p.E690*|MICAL3_ENST00000400561.2_Splice_Site_p.E690*|MICAL3_ENST00000429452.1_Splice_Site_p.E690*|MICAL3_ENST00000414725.2_Splice_Site_p.E690*|MICAL3_ENST00000585038.1_Splice_Site_p.E690*|MICAL3_ENST00000207726.7_Splice_Site_p.E690*|MICAL3_ENST00000444520.1_Splice_Site_p.E690*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	690	Poly-Glu.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGAGCTTCCTCCTGGTCAATG	0.612																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.e16-1		microtubule associated monooxygenase, calponin and LIM domain containing 3							111.0	106.0	108.0					22																	18368817		1568	3582	5150	SO:0001630	splice_region_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18368817C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2068-1G>T	22.37:g.18368817C>A						MICAL3_ENST00000585038.1_Splice_Site_p.E690_splice|MICAL3_ENST00000383094.3_Splice_Site_p.E690_splice|MICAL3_ENST00000207726.7_Splice_Site_p.E690_splice|MICAL3_ENST00000414725.2_Splice_Site_p.E690_splice|MICAL3_ENST00000400561.2_Splice_Site_p.E690_splice|MICAL3_ENST00000444520.1_Splice_Site_p.E690_splice|MICAL3_ENST00000429452.1_Splice_Site_p.E690_splice	p.E690_splice	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	16	2420	-		all_epithelial(15;0.198)	690			Poly-Glu.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Splice_Site	SNP	ENST00000441493.2	37	c.2067_splice	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	44	10.790355	0.99468	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	.	.	.	5.71	5.71	0.89125	.	0.105290	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	.	.	.	X	690	.	ENSP00000207726:E690X	E	-	1	0	XXbac-B461K10.4;MICAL3	16748817	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.382000	0.79729	2.698000	0.92095	0.561000	0.74099	GAG		0.612	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Nonsense_Mutation	11	107	1	0	0.00829132	1	0.00869385	11	107				
FN3KRP	79672	broad.mit.edu	37	17	80684939	80684939	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80684939G>A	ENST00000269373.6	+	6	895	c.822G>A	c.(820-822)gaG>gaA	p.E274E	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_Silent_p.E224E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	274							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGGATTCGAGAAGCGCCTTC	0.507																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(820-822)gaG>gaA		fructosamine 3 kinase related protein							75.0	79.0	77.0					17																	80684939		2203	4300	6503	SO:0001819	synonymous_variant	79672						kinase activity	g.chr17:80684939G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.822G>A	17.37:g.80684939G>A						FN3KRP_ENST00000535965.1_Silent_p.E224E	p.E274E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	895	+	Breast(20;0.000523)|all_neural(118;0.0952)		274					Q969F4|Q9H0U7	Silent	SNP	ENST00000269373.6	37	c.822G>A	CCDS11817.1																																																																																				0.507	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		34	45	0	0	0	1	0	34	45				
IRAK4	51135	broad.mit.edu	37	12	44176130	44176130	+	Missense_Mutation	SNP	A	A	G	rs147301051		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44176130A>G	ENST00000448290.2	+	9	1033	c.962A>G	c.(961-963)gAa>gGa	p.E321G	IRAK4_ENST00000431837.1_Missense_Mutation_p.E197G|IRAK4_ENST00000440781.2_Missense_Mutation_p.E197G|IRAK4_ENST00000551736.1_Missense_Mutation_p.E321G	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTACTGGATGAAGCTTTTACT	0.383																																						ENST00000431837.1																			0											c.(589-591)gAa>gGa		interleukin-1 receptor-associated kinase 4							64.0	65.0	64.0					12																	44176130		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44176130A>G	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.962A>G	12.37:g.44176130A>G	ENSP00000390651:p.Glu321Gly					IRAK4_ENST00000448290.2_Missense_Mutation_p.E321G|IRAK4_ENST00000440781.2_Missense_Mutation_p.E197G|IRAK4_ENST00000551736.1_Missense_Mutation_p.E321G	p.E197G	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	8	898	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	321			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.590A>G	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.040168	0.55003	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.307811	0.34906	N	0.003590	T	0.58481	0.2125	L	0.38733	1.17	0.50467	D	0.999873	B	0.16802	0.019	B	0.15484	0.013	T	0.53892	-0.8374	10	0.37606	T	0.19	-7.6617	15.8229	0.78673	1.0:0.0:0.0:0.0	.	321	Q9NWZ3	IRAK4_HUMAN	G	197;197;321;321	ENSP00000408734:E197G;ENSP00000390327:E197G;ENSP00000390651:E321G;ENSP00000446490:E321G	ENSP00000390327:E197G	E	+	2	0	IRAK4	42462397	1.000000	0.71417	0.563000	0.28383	0.607000	0.37147	5.942000	0.70203	2.130000	0.65690	0.477000	0.44152	GAA		0.383	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			4	41	0	0	0	1	0	4	41				
ATAD3B	83858	broad.mit.edu	37	1	1424620	1424620	+	Missense_Mutation	SNP	G	G	A	rs371673051		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1424620G>A	ENST00000308647.7	+	13	1419	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	435						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACACTGAACGCCTTCCTGTA	0.597																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1303-1305)Gcc>Acc		ATPase family, AAA domain containing 3B		G	THR/ALA	0,4406		0,0,2203	136.0	130.0	132.0		1303	1.6	0.6	1		132	1,8589		0,1,4294	no	missense	ATAD3B	NM_031921.4	58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	435/649	1424620	1,12995	2203	4295	6498	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1424620G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1303G>A	1.37:g.1424620G>A	ENSP00000311766:p.Ala435Thr						p.A435T	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	13	1419	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	435					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1303G>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432349	0.62844	0.0	1.16E-4	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.92965	-3.14	1.57	1.57	0.23409	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.169895	0.51477	D	0.000091	D	0.90310	0.6969	L	0.28192	0.835	0.80722	D	1	D;D	0.64830	0.994;0.987	P;P	0.59825	0.864;0.863	D	0.88589	0.3142	10	0.42905	T	0.14	.	11.0805	0.48057	0.0:0.0:1.0:0.0	.	389;435	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	T	237;435	ENSP00000311766:A435T	ENSP00000311766:A435T	A	+	1	0	ATAD3B	1414483	1.000000	0.71417	0.578000	0.28575	0.021000	0.10359	8.709000	0.91379	1.192000	0.43071	0.194000	0.17425	GCC		0.597	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		24	46	0	0	0	1	0	24	46				
TTN	7273	broad.mit.edu	37	2	179553506	179553506	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179553506C>T	ENST00000591111.1	-	124	31369		c.e124-1		TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACTTCAGCTTTAAGAAAG	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e126-1		titin							71.0	69.0	70.0					2																	179553506		1812	4075	5887	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179553506C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31145-1G>A	2.37:g.179553506C>T						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		126	32320	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	20.3	3.960191	0.74016	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2462	0.93904	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179261751	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.907000	0.63300	2.619000	0.88677	0.650000	0.86243	.		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	22	17	0	0	0	1	0	22	17				
CLEC10A	10462	broad.mit.edu	37	17	6978460	6978460	+	Silent	SNP	G	G	A	rs372729049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6978460G>A	ENST00000254868.4	-	9	1192	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CLEC10A_ENST00000571664.1_Silent_p.D264D|CLEC10A_ENST00000416562.2_Silent_p.D261D|CLEC10A_ENST00000576617.1_3'UTR	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	288	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCCACCTGCCGTCTGGATGGA	0.627																																						ENST00000254868.4																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(862-864)gaC>gaT		C-type lectin domain family 10, member A		G	,	1,4405	2.1+/-5.4	0,1,2202	54.0	54.0	54.0		792,864	-4.7	0.0	17		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CLEC10A	NM_006344.2,NM_182906.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	264/293,288/317	6978460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6978460G>A	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.864C>T	17.37:g.6978460G>A						CLEC10A_ENST00000416562.2_Silent_p.D261D|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000571664.1_Silent_p.D264D	p.D288D	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN			9	1192	-			288			C-type lectin.		A8K8J8|Q14538|Q6PIW3	Silent	SNP	ENST00000254868.4	37	c.864C>T	CCDS11087.1																																																																																				0.627	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		20	30	0	0	0	1	0	20	30				
ZNF70	7621	broad.mit.edu	37	22	24086151	24086151	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24086151T>C	ENST00000341976.3	-	2	1637	c.1177A>G	c.(1177-1179)Acc>Gcc	p.T393A		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CACTCGCAGGTGTAGGGCTTC	0.577																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1177-1179)Acc>Gcc		zinc finger protein 70							120.0	110.0	113.0					22																	24086151		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086151T>C	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1177A>G	22.37:g.24086151T>C	ENSP00000339314:p.Thr393Ala						p.T393A	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1637	-			393						Missense_Mutation	SNP	ENST00000341976.3	37	c.1177A>G	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401544	0.25291	.	.	ENSG00000187792	ENST00000341976	T	0.07216	3.21	3.46	-6.29	0.02013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42949	-0.9421	9	0.56958	D	0.05	.	8.3294	0.32178	0.1296:0.1575:0.0:0.7129	.	393	Q9UC06	ZNF70_HUMAN	A	393	ENSP00000339314:T393A	ENSP00000339314:T393A	T	-	1	0	ZNF70	22416151	0.000000	0.05858	0.028000	0.17463	0.914000	0.54420	-1.530000	0.02221	-1.368000	0.02149	-0.375000	0.07067	ACC		0.577	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		7	86	0	0	0	1	0	7	86				
LRRIQ1	84125	broad.mit.edu	37	12	85450908	85450908	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450908C>A	ENST00000393217.2	+	8	2398	c.2337C>A	c.(2335-2337)ccC>ccA	p.P779P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	779										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACATGACACCCGCTTTGGATA	0.328																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2335-2337)ccC>ccA		leucine-rich repeats and IQ motif containing 1							109.0	123.0	119.0					12																	85450908		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85450908C>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2337C>A	12.37:g.85450908C>A							p.P779P	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2398	+			779					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2337C>A	CCDS41816.1																																																																																				0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		58	100	1	0	5.5144e-22	1	7.27086e-22	58	100				
COL11A1	1301	broad.mit.edu	37	1	103548440	103548440	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103548440C>A	ENST00000370096.3	-	2	507	c.195G>T	c.(193-195)aaG>aaT	p.K65N	COL11A1_ENST00000353414.4_Missense_Mutation_p.K65N|COL11A1_ENST00000512756.1_Missense_Mutation_p.K65N|COL11A1_ENST00000358392.2_Missense_Mutation_p.K65N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTAGAATTCTTTCTGTTTG	0.358																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(193-195)aaG>aaT		collagen, type XI, alpha 1							134.0	135.0	134.0					1																	103548440		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548440C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.195G>T	1.37:g.103548440C>A	ENSP00000359114:p.Lys65Asn					COL11A1_ENST00000512756.1_Missense_Mutation_p.K65N|COL11A1_ENST00000370096.3_Missense_Mutation_p.K65N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K65N	p.K65N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	512	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	65			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.195G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713369	0.48517	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.7	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.049158	0.85682	D	0.000000	T	0.11836	0.0288	L	0.43923	1.385	0.32727	N	0.50947	B;B;B;B	0.30361	0.026;0.145;0.277;0.181	B;B;B;B	0.26310	0.014;0.031;0.068;0.031	T	0.05305	-1.0893	10	0.48119	T	0.1	.	11.1876	0.48666	0.0:0.7945:0.0:0.2055	.	65;65;65;65	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	65	ENSP00000359114:K65N;ENSP00000351163:K65N;ENSP00000302551:K65N;ENSP00000426533:K65N;ENSP00000408640:K65N	ENSP00000302551:K65N	K	-	3	2	COL11A1	103321028	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.914000	0.28624	0.754000	0.32968	0.467000	0.42956	AAG		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		33	140	1	0	2.52637e-11	1	3.14721e-11	33	140				
MUC17	140453	broad.mit.edu	37	7	100675272	100675272	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675272C>A	ENST00000306151.4	+	3	639	c.575C>A	c.(574-576)aCt>aAt	p.T192N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	192	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACTTCTACTCAGGCAAGT	0.453																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(574-576)aCt>aAt		mucin 17, cell surface associated							197.0	191.0	193.0					7																	100675272		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675272C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.575C>A	7.37:g.100675272C>A	ENSP00000302716:p.Thr192Asn						p.T192N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	639	+	Lung NSC(181;0.136)|all_lung(186;0.182)		192			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.575C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.574098	0.00887	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.693	-1.39	0.08997	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.41215	-0.9521	8	0.30078	T	0.28	.	.	.	.	.	192	Q685J3	MUC17_HUMAN	N	192	ENSP00000302716:T192N	ENSP00000302716:T192N	T	+	2	0	MUC17	100461992	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.447000	0.21710	-1.904000	0.01092	-1.043000	0.02367	ACT		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	240	1	0	0.248553	1	0.25002	7	240				
BRD2	6046	broad.mit.edu	37	6	32947864	32947864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32947864C>T	ENST00000374825.4	+	11	3802	c.2101C>T	c.(2101-2103)Cgc>Tgc	p.R701C	BRD2_ENST00000395287.1_Missense_Mutation_p.R736C|BRD2_ENST00000449085.2_Missense_Mutation_p.R654C|BRD2_ENST00000395289.2_Missense_Mutation_p.R736C|BRD2_ENST00000443797.2_Missense_Mutation_p.R581C|BRD2_ENST00000374831.4_Missense_Mutation_p.R701C	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	701	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGAGCTTGAGCGCTATGTCCT	0.458																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2206-2208)Cgc>Tgc		bromodomain containing 2							80.0	82.0	81.0					6																	32947864		1510	2708	4218	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32947864C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2101C>T	6.37:g.32947864C>T	ENSP00000363958:p.Arg701Cys					BRD2_ENST00000374831.4_Missense_Mutation_p.R701C|BRD2_ENST00000449085.2_Missense_Mutation_p.R654C|BRD2_ENST00000395287.1_Missense_Mutation_p.R736C|BRD2_ENST00000443797.2_Missense_Mutation_p.R581C|BRD2_ENST00000374825.4_Missense_Mutation_p.R701C	p.R736C			P25440	BRD2_HUMAN			12	3807	+			701			ET.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.2206C>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792652	0.50102	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.51	5.51	0.81932	.	0.000000	0.50627	D	0.000120	T	0.41282	0.1152	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.985	T	0.23332	-1.0191	10	0.59425	D	0.04	-12.5481	11.789	0.52059	0.1749:0.8251:0.0:0.0	.	736;701	A2AAU0;P25440	.;BRD2_HUMAN	C	701;701;736;581;736;654	ENSP00000363958:R701C;ENSP00000363964:R701C;ENSP00000378704:R736C;ENSP00000413495:R581C;ENSP00000378702:R736C;ENSP00000409145:R654C	ENSP00000363958:R701C	R	+	1	0	BRD2	33055842	1.000000	0.71417	0.977000	0.42913	0.937000	0.57800	1.827000	0.39102	2.873000	0.98535	0.643000	0.83706	CGC		0.458	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			17	33	0	0	0	1	0	17	33				
MIER1	57708	broad.mit.edu	37	1	67411875	67411875	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67411875C>A	ENST00000355356.3	+	3	226	c.77C>A	c.(76-78)gCt>gAt	p.A26D	MIER1_ENST00000401041.1_Missense_Mutation_p.A79D|MIER1_ENST00000357692.2_Missense_Mutation_p.A43D|MIER1_ENST00000371016.1_Missense_Mutation_p.A43D|MIER1_ENST00000371012.2_Missense_Mutation_p.A43D|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.A43D|MIER1_ENST00000371014.1_Missense_Mutation_p.A79D|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401042.3_Missense_Mutation_p.A26D	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	26					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GATCCATCAGCTGACATGCTG	0.353																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(127-129)gCt>gAt		mesoderm induction early response 1, transcriptional regulator							120.0	109.0	112.0					1																	67411875		1858	4091	5949	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67411875C>A		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.77C>A	1.37:g.67411875C>A	ENSP00000347514:p.Ala26Asp					MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371016.1_Missense_Mutation_p.A43D|MIER1_ENST00000371018.3_Missense_Mutation_p.A43D|MIER1_ENST00000355356.3_Missense_Mutation_p.A26D|MIER1_ENST00000371014.1_Missense_Mutation_p.A79D|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371012.2_Missense_Mutation_p.A43D|MIER1_ENST00000401041.1_Missense_Mutation_p.A79D|MIER1_ENST00000401042.3_Missense_Mutation_p.A26D	p.A43D	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			5	385	+			50					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.128C>A	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097733	0.94197	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000371012;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.24	5.24	0.73138	.	0.053540	0.64402	D	0.000001	T	0.49813	0.1579	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.987;0.997;0.965;0.997;0.999;0.999;0.999	T	0.52366	-0.8585	10	0.87932	D	0	-54.8401	19.2207	0.93795	0.0:1.0:0.0:0.0	.	43;43;26;26;43;79;79	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;.;.	D	47;43;43;79;43;79;43;26;26	ENSP00000360057:A43D;ENSP00000350321:A43D;ENSP00000383820:A79D;ENSP00000360055:A43D;ENSP00000360053:A79D;ENSP00000360051:A43D;ENSP00000383821:A26D;ENSP00000347514:A26D	ENSP00000347514:A26D	A	+	2	0	MIER1	67184463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.621000	0.88768	0.655000	0.94253	GCT		0.353	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		8	99	1	0	0.00621372	1	0.00652201	8	99				
ZNF567	163081	broad.mit.edu	37	19	37210117	37210117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37210117G>A	ENST00000536254.2	+	6	713	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF567_ENST00000588311.1_Missense_Mutation_p.G133E|ZNF567_ENST00000585696.1_Missense_Mutation_p.G133E|ZNF567_ENST00000392163.2_Missense_Mutation_p.G133E|ZNF567_ENST00000360729.4_Missense_Mutation_p.G133E|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGTATAATGGATATGGGAAA	0.353																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(397-399)gGa>gAa		zinc finger protein 567							50.0	49.0	50.0					19																	37210117		2202	4300	6502	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210117G>A	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.491G>A	19.37:g.37210117G>A	ENSP00000441838:p.Gly164Glu					ZNF567_ENST00000588311.1_Missense_Mutation_p.G133E|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.G164E|ZNF567_ENST00000360729.4_Missense_Mutation_p.G133E|ZNF567_ENST00000392163.2_Missense_Mutation_p.G133E	p.G133E			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1628	+	Esophageal squamous(110;0.198)		164					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.398G>A		.	.	.	.	.	.	.	.	.	.	G	0.427	-0.905208	0.02453	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.07908	3.26;3.15;3.21	4.04	0.591	0.17465	.	0.158574	0.30003	N	0.010658	T	0.02848	0.0085	N	0.12502	0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44097	-0.9350	10	0.02654	T	1	.	3.3036	0.06992	0.2964:0.0:0.521:0.1826	.	164;133	Q8N184;F8WEL6	ZN567_HUMAN;.	E	164;164;133;163;133	ENSP00000441838:G164E;ENSP00000353957:G133E;ENSP00000376003:G133E	ENSP00000353957:G133E	G	+	2	0	ZNF567	41901957	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	0.121000	0.15667	0.243000	0.21327	0.462000	0.41574	GGA		0.353	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		23	31	0	0	0	1	0	23	31				
TYW1B	441250	broad.mit.edu	37	7	72285979	72285979	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72285979C>A	ENST00000435769.2	-	0	339				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AGATGATCATCTGGATCATAT	0.333																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							126.0	111.0	115.0					7																	72285979		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72285979C>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72285979C>A										Q6NUM6	TYW1B_HUMAN			0	315	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.333	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	77	1	0	0.00909568	1	0.00947522	4	77				
DNAH8	1769	broad.mit.edu	37	6	38810662	38810662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38810662C>T	ENST00000359357.3	+	33	4431	c.4177C>T	c.(4177-4179)Cat>Tat	p.H1393Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.H1610Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.H1393Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1393					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTCCTTAAACATAAGGATGA	0.358																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4177-4179)Cat>Tat		dynein, axonemal, heavy chain 8							103.0	96.0	98.0					6																	38810662		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810662C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4177C>T	6.37:g.38810662C>T	ENSP00000352312:p.His1393Tyr					DNAH8_ENST00000441566.1_Missense_Mutation_p.H1393Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.H1610Y	p.H1393Y							33	4431	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4177C>T		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.215708	0.01542	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60299	0.2;0.2;0.2	5.12	1.01	0.19927	Dynein heavy chain, domain-2 (1);	0.241996	0.42053	D	0.000778	T	0.10121	0.0248	N	0.10760	0.04	0.21782	N	0.999545	B	0.02656	0.0	B	0.04013	0.001	T	0.40534	-0.9558	10	0.02654	T	1	.	9.5505	0.39306	0.4295:0.4586:0.0:0.1118	.	1393	Q96JB1	DYH8_HUMAN	Y	1598;1598;1393;1393	ENSP00000333363:H1598Y;ENSP00000352312:H1393Y;ENSP00000402294:H1393Y	ENSP00000333363:H1598Y	H	+	1	0	DNAH8	38918640	0.954000	0.32549	0.997000	0.53966	0.935000	0.57460	0.188000	0.17018	0.342000	0.23796	-0.375000	0.07067	CAT		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	60	0	0	0	1	0	7	60				
KIF6	221458	broad.mit.edu	37	6	39507779	39507779	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39507779C>A	ENST00000287152.7	-	13	1739	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*	KIF6_ENST00000373216.3_Splice_Site_p.G549*|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Splice_Site_p.G549*|KIF6_ENST00000373213.4_Splice_Site_p.G388*	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	549					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCAACTGACCTATTTTCTTG	0.418																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.e13+1		kinesin family member 6							160.0	169.0	166.0					6																	39507779		2203	4300	6503	SO:0001630	splice_region_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507779C>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1645+1G>T	6.37:g.39507779C>A						KIF6_ENST00000373215.3_Splice_Site_p.G549_splice|KIF6_ENST00000373213.4_Splice_Site_p.G388_splice|KIF6_ENST00000373216.3_Splice_Site_p.G549_splice|KIF6_ENST00000538893.1_Intron	p.G549_splice	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			13	1739	-			549					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Splice_Site	SNP	ENST00000287152.7	37	c.1645_splice	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.387763|7.387763	0.98252|0.98252	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215|ENST00000458470	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.0949|16.0949	0.81114|0.81114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|Y	549;549;388;549|440	.|.	.|.	G|X	-|-	1|3	0|2	KIF6|KIF6	39615757|39615757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.560000|0.560000	0.35617|0.35617	3.754000|3.754000	0.55189|0.55189	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGA|TAG		0.418	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	Nonsense_Mutation	14	182	1	0	1.49906e-05	1	1.69169e-05	14	182				
SRRM2	23524	broad.mit.edu	37	16	2812622	2812622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812622G>A	ENST00000301740.8	+	11	2642	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	698	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGACACCAAGACGAGGAAGA	0.552																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2092-2094)aGa>aAa		serine/arginine repetitive matrix 2							73.0	75.0	74.0					16																	2812622		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812622G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2093G>A	16.37:g.2812622G>A	ENSP00000301740:p.Arg698Lys						p.R698K	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2642	+			698			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2093G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	3.520	-0.098034	0.07010	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.22539	1.95	5.81	3.84	0.44239	.	0.000000	0.64402	D	0.000016	T	0.10337	0.0253	N	0.24115	0.695	0.19300	N	0.999978	B	0.11235	0.004	B	0.06405	0.002	T	0.38178	-0.9673	10	0.06236	T	0.91	-1.6049	6.0789	0.19931	0.0:0.6468:0.1841:0.1691	.	698	Q9UQ35	SRRM2_HUMAN	K	698;698;663	ENSP00000301740:R698K	ENSP00000301740:R698K	R	+	2	0	SRRM2	2752623	0.978000	0.34361	0.517000	0.27799	0.927000	0.56198	0.983000	0.29552	0.770000	0.33336	0.462000	0.41574	AGA		0.552	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			12	71	0	0	0	1	0	12	71				
HPS3	84343	broad.mit.edu	37	3	148880648	148880648	+	Nonsense_Mutation	SNP	C	C	T	rs369855073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148880648C>T	ENST00000296051.2	+	13	2604	c.2464C>T	c.(2464-2466)Cga>Tga	p.R822*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.R657*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	822					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.R822*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CACACCATTGCGAACATCGGA	0.373									Hermansky-Pudlak syndrome																													ENST00000296051.2																			1	Substitution - Nonsense(1)	p.R822*(1)	breast(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2464-2466)Cga>Tga		Hermansky-Pudlak syndrome 3		C	stop/ARG	0,4406		0,0,2203	104.0	102.0	102.0		2464	-4.0	0.0	3		102	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	HPS3	NM_032383.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		822/1005	148880648	2,13004	2203	4300	6503	SO:0001587	stop_gained	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148880648C>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2464C>T	3.37:g.148880648C>T	ENSP00000296051:p.Arg822*					HPS3_ENST00000460120.1_Nonsense_Mutation_p.R657*	p.R822*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2604	+			822					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Nonsense_Mutation	SNP	ENST00000296051.2	37	c.2464C>T	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022552	0.93462	0.0	2.33E-4	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	5.87	-4.0	0.04057	.	0.206632	0.48767	D	0.000173	.	.	.	.	.	.	0.42552	D	0.993115	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9377	21.0398	0.99944	0.8666:0.1334:0.0:0.0	.	.	.	.	X	822;657	.	ENSP00000296051:R822X	R	+	1	2	HPS3	150363338	1.000000	0.71417	0.004000	0.12327	0.034000	0.12701	1.107000	0.31110	-0.501000	0.06605	-0.261000	0.10672	CGA		0.373	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		26	49	0	0	0	1	0	26	49				
LOC645166	645166	broad.mit.edu	37	1	148932911	148932911	+	lincRNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148932911G>A	ENST00000539543.1	+	0	167					NR_027355.2																						CCAAGACTCCGTCCTGCAAGG	0.612																																						ENST00000539543.1																			0																																																			0							g.chr1:148932911G>A																													1.37:g.148932911G>A								NR_027355.1						0	167	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.612	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				8	113	0	0	0	1	0	8	113				
IGLV3-16	28799	broad.mit.edu	37	22	23090165	23090165	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23090165A>G	ENST00000390311.2	+	0	142									immunoglobulin lambda variable 3-16																		TCCCTAGGACAGATGGCCAGG	0.522																																						ENST00000390311.2																			0																				86.0	88.0	87.0					22																	23090165		1922	4142	6064			0							g.chr22:23090165A>G	X97471		22q11.2	2012-02-08			ENSG00000211665	ENSG00000211665		"""Immunoglobulins / IGL locus"""	5901	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151231		22.37:g.23090165A>G														0	142	+									RNA	SNP	ENST00000390311.2	37																																																																																						0.522	IGLV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321835.1	NG_000002		35	49	0	0	0	1	0	35	49				
CCNB3	85417	broad.mit.edu	37	X	50054133	50054133	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50054133G>A	ENST00000376042.1	+	6	3262	c.2964G>A	c.(2962-2964)aaG>aaA	p.K988K	CCNB3_ENST00000276014.7_Silent_p.K988K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	988					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAACCAGCAAGTCCAGCATTG	0.478																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2962-2964)aaG>aaA		cyclin B3							95.0	83.0	87.0					X																	50054133		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054133G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2964G>A	X.37:g.50054133G>A						CCNB3_ENST00000276014.7_Silent_p.K988K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron	p.K988K			Q8WWL7	CCNB3_HUMAN			6	3262	+	Ovarian(276;0.236)		988					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2964G>A	CCDS14331.1																																																																																				0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			39	53	0	0	0	1	0	39	53				
UQCRH	7388	broad.mit.edu	37	1	46774775	46774775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46774775G>T	ENST00000311672.5	+	2	193	c.57G>T	c.(55-57)gaG>gaT	p.E19D	UQCRH_ENST00000486951.1_3'UTR	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	19	Poly-Glu.				aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|protein heterooligomerization (GO:0051291)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTGTAGGAGGAAGAGGAAG	0.358																																						ENST00000311672.5																			0				large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4						c.(55-57)gaG>gaT		ubiquinol-cytochrome c reductase hinge protein							147.0	139.0	142.0					1																	46774775		2203	4300	6503	SO:0001583	missense	7388				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity	g.chr1:46774775G>T	BC001934	CCDS30704.1	1p34.1	2011-07-04			ENSG00000173660	ENSG00000173660	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12590	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VIII"""	613844				2826252	Standard	XM_005271167		Approved	QCR6, UQCR8	uc001cpp.3	P07919	OTTHUMG00000007813	ENST00000311672.5:c.57G>T	1.37:g.46774775G>T	ENSP00000309565:p.Glu19Asp					UQCRH_ENST00000486951.1_3'UTR	p.E19D	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN			2	193	+	Acute lymphoblastic leukemia(166;0.155)		19			Poly-Glu.		B2R4V9|D3DQ18|Q5TDF6|Q6LDB8|Q9BQ91	Missense_Mutation	SNP	ENST00000311672.5	37	c.57G>T	CCDS30704.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721005	0.68959	.	.	ENSG00000173660	ENST00000311672	T	0.44881	0.91	5.14	0.868	0.19090	Ubiquinol-cytochrome C reductase hinge domain (2);	0.107189	0.64402	D	0.000002	T	0.56775	0.2008	.	.	.	0.36521	D	0.870182	D	0.76494	0.999	D	0.73708	0.981	T	0.61093	-0.7132	9	0.56958	D	0.05	-8.4462	7.2241	0.26005	0.5318:0.0:0.4682:0.0	.	19	P07919	QCR6_HUMAN	D	19	ENSP00000309565:E19D	ENSP00000309565:E19D	E	+	3	2	UQCRH	46547362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.903000	0.28475	0.305000	0.22832	0.650000	0.86243	GAG		0.358	UQCRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021451.1	NM_006004		22	30	1	0	2.89027e-11	1	3.59474e-11	22	30				
SAA2	6289	broad.mit.edu	37	11	18267006	18267006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267006G>A	ENST00000526900.1	-	4	470	c.287C>T	c.(286-288)gCc>gTc	p.A96V	SAA2_ENST00000530400.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.A96V|SAA2_ENST00000256733.4_Missense_Mutation_p.A96V|SAA2_ENST00000414546.2_Intron			P0DJI9	SAA2_HUMAN	serum amyloid A2	96					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGCCTGATCGGCCAGCGAGTC	0.557																																						ENST00000526900.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(286-288)gCc>gTc		serum amyloid A2							87.0	77.0	81.0					11																	18267006		2199	4293	6492	SO:0001583	missense	6289							g.chr11:18267006G>A	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.287C>T	11.37:g.18267006G>A	ENSP00000436126:p.Ala96Val					SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.A96V|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.A96V	p.A96V							4	470	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.287C>T	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436789	0.62955	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.15017	2.46;2.46;2.46	5.01	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10359	-1.0633	7	0.87932	D	0	.	5.7694	0.18245	0.094:0.0:0.5601:0.3459	.	.	.	.	V	96	ENSP00000256733:A96V;ENSP00000437162:A96V;ENSP00000436126:A96V	ENSP00000256733:A96V	A	-	2	0	SAA2	18223582	0.011000	0.17503	0.030000	0.17652	0.021000	0.10359	0.795000	0.26972	0.587000	0.29643	0.650000	0.86243	GCC		0.557	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		5	36	0	0	0	1	0	5	36				
SEC22B	9554	broad.mit.edu	37	1	145115738	145115738	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145115738T>C	ENST00000453618.1	+	0	824							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTGACAGCATTGGATTCAAAG	0.388																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							172.0	164.0	166.0					1																	145115738		1964	4154	6118			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145115738T>C	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115738T>C										O75396	SC22B_HUMAN			0	824	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.388	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		12	167	0	0	0	1	0	12	167				
MLYCD	23417	broad.mit.edu	37	16	83948828	83948828	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948828C>A	ENST00000262430.4	+	5	1235	c.1216C>A	c.(1216-1218)Ctg>Atg	p.L406M	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	406	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CGCCTGGTACCTGTATGGAGA	0.647																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1216-1218)Ctg>Atg		malonyl-CoA decarboxylase							51.0	59.0	56.0					16																	83948828		2123	4232	6355	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948828C>A	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1216C>A	16.37:g.83948828C>A	ENSP00000262430:p.Leu406Met					RP11-505K9.4_ENST00000561562.1_RNA	p.L406M	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			5	1235	+			406					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.1216C>A	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189963	0.58017	.	.	ENSG00000103150	ENST00000262430	D	0.93307	-3.2	4.79	1.47	0.22746	.	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	H	0.94886	3.595	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.95619	0.8679	10	0.72032	D	0.01	-23.5417	8.6304	0.33915	0.0:0.6123:0.0:0.3877	.	406	O95822	DCMC_HUMAN	M	406	ENSP00000262430:L406M	ENSP00000262430:L406M	L	+	1	2	MLYCD	82506329	0.996000	0.38824	0.993000	0.49108	0.709000	0.40893	0.558000	0.23469	0.464000	0.27142	0.511000	0.50034	CTG		0.647	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		31	52	1	0	2.46105e-21	1	3.23713e-21	31	52				
DDX43	55510	broad.mit.edu	37	6	74104640	74104640	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104640C>T	ENST00000370336.4	+	1	170	c.12C>T	c.(10-12)caC>caT	p.H4H	snoU13_ENST00000459178.1_RNA|OOEP_ENST00000370363.1_De_novo_Start_OutOfFrame|DDX43_ENST00000539829.1_Silent_p.H4H	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	4					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.H4H(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCCCACCACGGAGGAGCTC	0.632																																						ENST00000370363.1																			1	Substitution - coding silent(1)	p.H4H(1)	lung(1)	large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8								oocyte expressed protein							49.0	53.0	52.0					6																	74104640		2203	4300	6503	SO:0001819	synonymous_variant	441161					cytoplasm		g.chr6:74104640C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.12C>T	6.37:g.74104640C>T						DDX43_ENST00000370336.4_Silent_p.H4H|DDX43_ENST00000539829.1_Silent_p.H4H				A6NGQ2	OOEP_HUMAN			0	176	-								B4E0C8|Q6NXR1	Translation_Start_Site	SNP	ENST00000370336.4	37		CCDS4977.1																																																																																				0.632	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		7	52	0	0	0	1	0	7	52				
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1060-1062)cGc>cAc		zinc finger protein 613							97.0	97.0	97.0					19																	52448197		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448197G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1061G>A	19.37:g.52448197G>A	ENSP00000293471:p.Arg354His					ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	p.R354H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1740	+		all_neural(266;0.117)	354					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1061G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	ZNF613	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		44	48	0	0	0	1	0	44	48				
RIF1	55183	broad.mit.edu	37	2	152293842	152293842	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293842T>C	ENST00000243326.5	+	12	1943	c.1460T>C	c.(1459-1461)gTt>gCt	p.V487A	RIF1_ENST00000428287.2_Missense_Mutation_p.V487A|RIF1_ENST00000453091.2_Missense_Mutation_p.V487A|RIF1_ENST00000430328.2_Missense_Mutation_p.V487A|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.V487A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATAGCTTTGTTGCAGTTGGA	0.388																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1459-1461)gTt>gCt		RAP1 interacting factor homolog (yeast)							98.0	94.0	96.0					2																	152293842		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152293842T>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1460T>C	2.37:g.152293842T>C	ENSP00000243326:p.Val487Ala					RIF1_ENST00000430328.2_Missense_Mutation_p.V487A|RIF1_ENST00000453091.2_Missense_Mutation_p.V487A|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.V487A|RIF1_ENST00000428287.2_Missense_Mutation_p.V487A	p.V487A			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	12	1943	+			487					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1460T>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040823	0.35989	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.58	5.58	0.84498	.	0.116139	0.64402	D	0.000015	T	0.66577	0.2803	L	0.36672	1.1	0.80722	D	1	P;D	0.56968	0.86;0.978	B;P	0.56343	0.4;0.796	T	0.67023	-0.5775	10	0.45353	T	0.12	-17.0679	15.7102	0.77620	0.0:0.0:0.0:1.0	.	487;487	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	487	ENSP00000390181:V487A;ENSP00000414615:V487A;ENSP00000415691:V487A;ENSP00000243326:V487A;ENSP00000416123:V487A	ENSP00000243326:V487A	V	+	2	0	RIF1	152002088	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	4.609000	0.61148	2.253000	0.74438	0.455000	0.32223	GTT		0.388	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			4	78	0	0	0	1	0	4	78				
MUC2	4583	broad.mit.edu	37	11	1083767	1083767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1083767G>A	ENST00000441003.2	+	18	2326	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	MUC2_ENST00000359061.5_Missense_Mutation_p.D767N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	767					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GATCCACATGGACTGCAGCAA	0.701																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2299-2301)Gac>Aac		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						20.0	23.0	22.0					11																	1083767		2093	4200	6293	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083767G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2299G>A	11.37:g.1083767G>A	ENSP00000415183:p.Asp767Asn					MUC2_ENST00000359061.5_Missense_Mutation_p.D767N	p.D767N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2326	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	767					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2299G>A		.	.	.	.	.	.	.	.	.	.	G	12.60	1.985578	0.35036	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.16324	2.35;2.35	4.07	4.07	0.47477	.	0.081401	0.46758	U	0.000264	T	0.21145	0.0509	L	0.37897	1.145	0.23396	N	0.997764	P	0.42161	0.772	P	0.47941	0.562	T	0.05273	-1.0895	10	0.56958	D	0.05	.	13.756	0.62937	0.0:0.0:1.0:0.0	.	767	E7EUV1	.	N	767	ENSP00000415183:D767N;ENSP00000351956:D767N	ENSP00000351956:D767N	D	+	1	0	MUC2	1073767	0.609000	0.26975	0.836000	0.33094	0.066000	0.16364	2.554000	0.45845	2.107000	0.64212	0.195000	0.17529	GAC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	22	0	0	0	1	0	5	22				
NUP98	4928	broad.mit.edu	37	11	3704480	3704480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3704480G>A	ENST00000324932.7	-	30	5288	c.4868C>T	c.(4867-4869)gCt>gTt	p.A1623V	NUP98_ENST00000359171.4_Missense_Mutation_p.A1549V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1549V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1640					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGTGCTCAGCCTTAAATAA	0.527			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4867-4869)gCt>gTt		nucleoporin 98kDa							137.0	114.0	122.0					11																	3704480		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3704480G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4868C>T	11.37:g.3704480G>A	ENSP00000316032:p.Ala1623Val					NUP98_ENST00000359171.4_Missense_Mutation_p.A1549V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1549V	p.A1623V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	30	5288	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1640					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4868C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945400	0.92593	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	M	0.80616	2.505	0.30751	N	0.745083	D;D;D	0.76494	0.999;0.999;0.995	D;D;P	0.77557	0.986;0.99;0.864	T	0.76024	-0.3110	9	0.87932	D	0	-18.2442	15.3393	0.74284	0.0:0.1388:0.8612:0.0	.	1549;1623;1537	P52948-2;P52948-5;P52948-6	.;.;.	V	1623;1549;1549	.	ENSP00000316032:A1623V	A	-	2	0	NUP98	3661056	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.662000	0.83803	2.937000	0.99478	0.650000	0.86243	GCT		0.527	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		17	31	0	0	0	1	0	17	31				
DNAH3	55567	broad.mit.edu	37	16	21061301	21061301	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21061301G>T	ENST00000261383.3	-	30	4276	c.4277C>A	c.(4276-4278)gCt>gAt	p.A1426D	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1426D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1426	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCCTCTGGAGCACCCCCAAG	0.507																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4276-4278)gCt>gAt		dynein, axonemal, heavy chain 3							157.0	146.0	150.0					16																	21061301		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21061301G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4277C>A	16.37:g.21061301G>T	ENSP00000261383:p.Ala1426Asp					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1426D	p.A1426D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	30	4276	-			1426			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4277C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776018	0.90195	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39056	1.1;1.1	5.92	4.96	0.65561	ATPase, AAA+ type, core (1);	0.129853	0.50627	D	0.000108	T	0.80003	0.4544	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89478	0.3748	10	0.87932	D	0	.	17.024	0.86440	0.0:0.1274:0.8726:0.0	.	1426	Q8TD57	DYH3_HUMAN	D	1426	ENSP00000261383:A1426D;ENSP00000394245:A1426D	ENSP00000261383:A1426D	A	-	2	0	DNAH3	20968802	1.000000	0.71417	0.734000	0.30879	0.984000	0.73092	9.720000	0.98763	1.487000	0.48415	0.655000	0.94253	GCT		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		36	65	1	0	1.59361e-14	1	2.0342e-14	36	65				
KIFC3	3801	broad.mit.edu	37	16	57799471	57799471	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57799471A>C	ENST00000379655.4	-	11	1669	c.1412T>G	c.(1411-1413)tTc>tGc	p.F471C	KIFC3_ENST00000562903.1_Missense_Mutation_p.F332C|KIFC3_ENST00000421376.2_Missense_Mutation_p.F332C|KIFC3_ENST00000539578.1_Missense_Mutation_p.F413C|KIFC3_ENST00000465878.2_Missense_Mutation_p.F332C|KIFC3_ENST00000541240.1_Missense_Mutation_p.F493C|KIFC3_ENST00000540079.2_Missense_Mutation_p.F369C|KIFC3_ENST00000445690.2_Missense_Mutation_p.F471C|KIFC3_ENST00000543930.1_Missense_Mutation_p.F332C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	471	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTCGGCATCGAAAGTCACAGC	0.592																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1411-1413)tTc>tGc		kinesin family member C3							167.0	103.0	125.0					16																	57799471		2197	4300	6497	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57799471A>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1412T>G	16.37:g.57799471A>C	ENSP00000368976:p.Phe471Cys					KIFC3_ENST00000543930.1_Missense_Mutation_p.F332C|KIFC3_ENST00000541240.1_Missense_Mutation_p.F493C|KIFC3_ENST00000562903.1_Missense_Mutation_p.F332C|KIFC3_ENST00000539578.1_Missense_Mutation_p.F413C|KIFC3_ENST00000465878.2_Missense_Mutation_p.F332C|KIFC3_ENST00000445690.2_Missense_Mutation_p.F471C|KIFC3_ENST00000421376.2_Missense_Mutation_p.F332C|KIFC3_ENST00000540079.2_Missense_Mutation_p.F369C	p.F471C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			11	1669	-		all_neural(199;0.224)	471			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1412T>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222249	0.58560	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.4	5.4	0.78164	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.71920	2.185	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.985;1.0;1.0;1.0	D;D;D;P;D;D;D	0.85130	0.993;0.985;0.982;0.653;0.968;0.991;0.997	T	0.67707	-0.5601	10	0.72032	D	0.01	.	14.6227	0.68597	1.0:0.0:0.0:0.0	.	493;413;332;369;176;471;332	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	C	471;471;332;493;369;332;413	ENSP00000368976:F471C;ENSP00000401696:F471C;ENSP00000396399:F332C;ENSP00000442008:F493C;ENSP00000438805:F369C;ENSP00000444012:F332C;ENSP00000444884:F413C	ENSP00000368976:F471C	F	-	2	0	KIFC3	56356972	1.000000	0.71417	0.896000	0.35187	0.002000	0.02628	7.233000	0.78125	2.061000	0.61500	0.533000	0.62120	TTC		0.592	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		7	2	0	0	0	1	0	7	2				
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1957-1959)gCg>gTg		NUAK family, SNF1-like kinase, 1							87.0	91.0	89.0					12																	106460608		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460608G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1958C>T	12.37:g.106460608G>A	ENSP00000261402:p.Ala653Val						p.A653V	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3337	-			653					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1958C>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203470	0.95033	.	.	ENSG00000074590	ENST00000261402	D	0.82984	-1.67	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000012	D	0.90916	0.7145	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.91082	0.4900	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	653	O60285	NUAK1_HUMAN	V	653	ENSP00000261402:A653V	ENSP00000261402:A653V	A	-	2	0	NUAK1	104984738	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	9.476000	0.97823	2.755000	0.94549	0.655000	0.94253	GCG		0.632	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		52	84	0	0	0	1	0	52	84				
FGA	2243	broad.mit.edu	37	4	155505592	155505592	+	Missense_Mutation	SNP	G	G	A	rs150073296		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155505592G>A	ENST00000302053.3	-	6	2363	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	762	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCATCACCCGCAGTGCCTTC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19572	0.0		0.0	False		,,,				2504	0.0				NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2284-2286)gCg>gTg		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	G	VAL/ALA	9,4397	15.5+/-35.6	0,9,2194	129.0	124.0	126.0		2285	5.7	0.1	4	dbSNP_134	126	0,8600		0,0,4300	yes	missense	FGA	NM_000508.3	64	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	762/867	155505592	9,12997	2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505592G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2285C>T	4.37:g.155505592G>A	ENSP00000306361:p.Ala762Val						p.A762V	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2363	-	all_hematologic(180;0.215)	Renal(120;0.0458)	762			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2285C>T	CCDS3787.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.78	3.696802	0.68386	0.002043	0.0	ENSG00000171560	ENST00000302053	D	0.82803	-1.65	5.7	5.7	0.88788	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.554125	0.21087	N	0.080394	D	0.91781	0.7400	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.92039	0.5639	10	0.72032	D	0.01	.	19.844	0.96702	0.0:0.0:1.0:0.0	.	762	P02671	FIBA_HUMAN	V	762	ENSP00000306361:A762V	ENSP00000306361:A762V	A	-	2	0	FGA	155725042	1.000000	0.71417	0.144000	0.22314	0.532000	0.34746	5.691000	0.68249	2.690000	0.91761	0.650000	0.86243	GCG		0.542	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		30	58	0	0	0	1	0	30	58				
SRGAP2	23380	broad.mit.edu	37	1	206619487	206619487	+	Silent	SNP	G	G	A	rs201768482		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206619487G>A	ENST00000414007.1	+	14	1521	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	647	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCGGGCCCTCGCTAATGTCAG	0.532																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(1519-1521)tcG>tcA		SLIT-ROBO Rho GTPase activating protein 2							79.0	82.0	81.0					1																	206619487		2165	4280	6445	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206619487G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1521G>A	1.37:g.206619487G>A						SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR	p.S507S			O75044	FNBP2_HUMAN			14	1521	+	Breast(84;0.137)		647			Rho-GAP.			Silent	SNP	ENST00000414007.1	37	c.1521G>A		.	.	.	.	.	.	.	.	.	.	G	1.425	-0.571930	0.03882	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.7	-4.2	0.03823	.	.	.	.	.	T	0.17195	0.0413	.	.	.	0.31099	N	0.710612	.	.	.	.	.	.	T	0.24799	-1.0150	3	.	.	.	.	1.0425	0.01562	0.3689:0.0961:0.2473:0.2876	.	.	.	.	T	561	.	.	A	+	1	0	SRGAP2	204686110	0.096000	0.21769	0.940000	0.37924	0.186000	0.23388	-0.457000	0.06745	-0.818000	0.04329	-0.882000	0.02950	GCT		0.532	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		39	76	0	0	0	1	0	39	76				
ZKSCAN3	80317	broad.mit.edu	37	6	28331480	28331480	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28331480A>G	ENST00000377255.3	+	6	942	c.645A>G	c.(643-645)aaA>aaG	p.K215K	ZKSCAN3_ENST00000341464.5_Silent_p.K67K|ZKSCAN3_ENST00000252211.2_Silent_p.K215K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	215	KRAB.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GGTTGTTGAAAGTGGAAGATG	0.522																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(643-645)aaA>aaG		zinc finger with KRAB and SCAN domains 3							91.0	90.0	90.0					6																	28331480		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28331480A>G	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.645A>G	6.37:g.28331480A>G						ZKSCAN3_ENST00000252211.2_Silent_p.K215K|ZKSCAN3_ENST00000341464.5_Silent_p.K67K	p.K215K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			6	942	+			215			KRAB.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.645A>G	CCDS4650.1																																																																																				0.522	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		3	69	0	0	0	1	0	3	69				
SMARCA4	6597	broad.mit.edu	37	19	11135027	11135027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11135027C>T	ENST00000429416.3	+	22	3275	c.2994C>T	c.(2992-2994)tgC>tgT	p.C998C	SMARCA4_ENST00000413806.3_Silent_p.C998C|SMARCA4_ENST00000590574.1_Silent_p.C998C|SMARCA4_ENST00000450717.3_Silent_p.C998C|SMARCA4_ENST00000541122.2_Silent_p.C998C|SMARCA4_ENST00000444061.3_Silent_p.C998C|SMARCA4_ENST00000358026.2_Silent_p.C998C|SMARCA4_ENST00000589677.1_Silent_p.C998C|SMARCA4_ENST00000344626.4_Silent_p.C998C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	998					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGTGCGACATGTCTG	0.622			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2992-2994)tgC>tgT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							92.0	64.0	73.0					19																	11135027		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11135027C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2994C>T	19.37:g.11135027C>T						SMARCA4_ENST00000590574.1_Silent_p.C998C|SMARCA4_ENST00000413806.3_Silent_p.C998C|SMARCA4_ENST00000344626.4_Silent_p.C998C|SMARCA4_ENST00000541122.2_Silent_p.C998C|SMARCA4_ENST00000589677.1_Silent_p.C998C|SMARCA4_ENST00000429416.3_Silent_p.C998C|SMARCA4_ENST00000444061.3_Silent_p.C998C|SMARCA4_ENST00000450717.3_Silent_p.C998C	p.C998C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			21	3278	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	998					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.2994C>T	CCDS12253.1																																																																																				0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		7	25	0	0	0	1	0	7	25				
FAM135B	51059	broad.mit.edu	37	8	139158255	139158255	+	Missense_Mutation	SNP	C	C	T	rs267601783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139158255C>T	ENST00000395297.1	-	15	3657	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1163								p.E1163*(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCCAGTTCTATGAAAGTC	0.448										HNSCC(54;0.14)																												ENST00000395297.1																			4	Substitution - Nonsense(4)	p.E1163*(4)	large_intestine(2)|lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3487-3489)Gaa>Aaa		family with sequence similarity 135, member B							88.0	93.0	92.0					8																	139158255		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139158255C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3487G>A	8.37:g.139158255C>T	ENSP00000378710:p.Glu1163Lys	HNSCC(54;0.14)					p.E1163K	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		15	3657	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1163					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3487G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992019	0.74703	.	.	ENSG00000147724	ENST00000395297	T	0.45276	0.9	5.81	4.92	0.64577	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.49126	1.545	0.54753	D	0.99998	D;D	0.89917	1.0;0.999	D;D	0.83275	0.98;0.996	T	0.56890	-0.7904	9	.	.	.	-8.7909	15.404	0.74863	0.1401:0.8599:0.0:0.0	.	1163;1163	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	K	1163	ENSP00000378710:E1163K	.	E	-	1	0	FAM135B	139227437	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.064000	0.71169	1.433000	0.47394	0.655000	0.94253	GAA		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		28	49	0	0	0	1	0	28	49				
LAMA1	284217	broad.mit.edu	37	18	6961979	6961979	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6961979T>C	ENST00000389658.3	-	52	7510	c.7417A>G	c.(7417-7419)Aat>Gat	p.N2473D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2473	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCATAGGAATTTCTGAGTAAG	0.403																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(7417-7419)Aat>Gat		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						135.0	136.0	136.0					18																	6961979		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6961979T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7417A>G	18.37:g.6961979T>C	ENSP00000374309:p.Asn2473Asp						p.N2473D	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			52	7510	-		Colorectal(10;0.172)	2473			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7417A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644513	0.47258	.	.	ENSG00000101680	ENST00000389658	T	0.79033	-1.23	5.75	4.58	0.56647	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.171905	0.49305	D	0.000155	T	0.64249	0.2581	L	0.35341	1.055	0.35996	D	0.837027	B	0.22746	0.074	B	0.15870	0.014	T	0.60657	-0.7220	10	0.07644	T	0.81	.	13.1149	0.59295	0.0:0.0:0.1337:0.8662	.	2473	P25391	LAMA1_HUMAN	D	2473	ENSP00000374309:N2473D	ENSP00000374309:N2473D	N	-	1	0	LAMA1	6951979	1.000000	0.71417	0.992000	0.48379	0.901000	0.52897	3.797000	0.55514	0.992000	0.38840	0.533000	0.62120	AAT		0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		30	93	0	0	0	1	0	30	93				
OTOF	9381	broad.mit.edu	37	2	26688593	26688593	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26688593G>A	ENST00000272371.2	-	38	4872	c.4746C>T	c.(4744-4746)aaC>aaT	p.N1582N	OTOF_ENST00000402415.3_Silent_p.N892N|OTOF_ENST00000339598.3_Silent_p.N815N|OTOF_ENST00000403946.3_Silent_p.N1582N|OTOF_ENST00000338581.6_Silent_p.N815N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1582					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGAAGCGGTTCTCCAGGT	0.617																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4744-4746)aaC>aaT		otoferlin							159.0	130.0	140.0					2																	26688593		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26688593G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4746C>T	2.37:g.26688593G>A						OTOF_ENST00000339598.3_Silent_p.N815N|OTOF_ENST00000402415.3_Silent_p.N892N|OTOF_ENST00000403946.3_Silent_p.N1582N|OTOF_ENST00000338581.6_Silent_p.N815N	p.N1582N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			38	4872	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1582					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.4746C>T	CCDS1725.1																																																																																				0.617	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			16	34	0	0	0	1	0	16	34				
WDR72	256764	broad.mit.edu	37	15	53907678	53907678	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53907678A>C	ENST00000396328.1	-	15	2964	c.2725T>G	c.(2725-2727)Ttt>Gtt	p.F909V	WDR72_ENST00000360509.5_Missense_Mutation_p.F909V|WDR72_ENST00000557913.1_Missense_Mutation_p.F906V|WDR72_ENST00000559418.1_Missense_Mutation_p.F919V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	909										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAACTAAAAATAGTCTGCTC	0.333																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2725-2727)Ttt>Gtt		WD repeat domain 72							30.0	32.0	31.0					15																	53907678		2189	4287	6476	SO:0001583	missense	256764							g.chr15:53907678A>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2725T>G	15.37:g.53907678A>C	ENSP00000379619:p.Phe909Val					WDR72_ENST00000557913.1_Missense_Mutation_p.F906V|WDR72_ENST00000559418.1_Missense_Mutation_p.F919V|WDR72_ENST00000360509.5_Missense_Mutation_p.F909V	p.F909V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2964	-			909					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2725T>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	9.209	1.030434	0.19512	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35605	1.3;1.3	5.72	4.59	0.56863	.	0.173535	0.41823	D	0.000817	T	0.21427	0.0516	N	0.24115	0.695	0.28135	N	0.930038	B	0.22276	0.067	B	0.15052	0.012	T	0.14559	-1.0468	10	0.24483	T	0.36	.	7.5296	0.27674	0.7704:0.1529:0.0768:0.0	.	909	Q3MJ13	WDR72_HUMAN	V	909	ENSP00000379619:F909V;ENSP00000353699:F909V	ENSP00000353699:F909V	F	-	1	0	WDR72	51694970	0.997000	0.39634	0.988000	0.46212	0.982000	0.71751	1.606000	0.36826	0.993000	0.38866	0.533000	0.62120	TTT		0.333	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		20	24	0	0	0	1	0	20	24				
SYNE2	23224	broad.mit.edu	37	14	64596583	64596583	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64596583A>G	ENST00000344113.4	+	75	14315	c.14103A>G	c.(14101-14103)ttA>ttG	p.L4701L	SYNE2_ENST00000357395.3_Silent_p.L1086L|SYNE2_ENST00000358025.3_Silent_p.L4701L|SYNE2_ENST00000554584.1_Silent_p.L4618L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1086L|SYNE2_ENST00000555002.1_Silent_p.L1335L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4701					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTTCATTTACCTTATGCTT	0.458																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3256-3258)ttA>ttG		spectrin repeat containing, nuclear envelope 2							136.0	134.0	134.0					14																	64596583		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64596583A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14103A>G	14.37:g.64596583A>G						SYNE2_ENST00000555002.1_Silent_p.L1335L|SYNE2_ENST00000394768.2_Silent_p.L1086L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.L4701L|SYNE2_ENST00000554584.1_Silent_p.L4618L|SYNE2_ENST00000358025.3_Silent_p.L4701L	p.L1086L			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	76	14402	+			4701					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3258A>G	CCDS41963.1																																																																																				0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		24	36	0	0	0	1	0	24	36				
LARP6	55323	broad.mit.edu	37	15	71125303	71125303	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125303G>T	ENST00000299213.8	-	3	634	c.564C>A	c.(562-564)gtC>gtA	p.V188V	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	188	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGAGATCATAGACCAGGAGCA	0.557																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(562-564)gtC>gtA		La ribonucleoprotein domain family, member 6							64.0	63.0	63.0					15																	71125303		2199	4297	6496	SO:0001819	synonymous_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125303G>T	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.564C>A	15.37:g.71125303G>T							p.V188V	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN			3	634	-			188					Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	c.564C>A	CCDS32281.1																																																																																				0.557	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		8	44	1	0	1.12685e-05	1	1.27857e-05	8	44				
HCN4	10021	broad.mit.edu	37	15	73616290	73616290	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73616290C>T	ENST00000261917.3	-	8	3137	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	715					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTCTTCTTGCCTGGGCCACA	0.562																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.e8-1		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							64.0	70.0	68.0					15																	73616290		2198	4296	6494	SO:0001630	splice_region_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616290C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2144-1G>A	15.37:g.73616290C>T							p.G715_splice	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3137	-			715					Q9UMQ7	Splice_Site	SNP	ENST00000261917.3	37	c.2143_splice	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125059	0.37533	.	.	ENSG00000138622	ENST00000261917	T	0.52983	0.64	3.46	2.54	0.30619	RmlC-like jelly roll fold (1);	.	.	.	.	T	0.45577	0.1349	M	0.79258	2.445	0.80722	D	1	B	0.31125	0.309	B	0.23574	0.047	T	0.47749	-0.9093	9	0.59425	D	0.04	.	10.0722	0.42339	0.0:0.8981:0.0:0.1019	.	715	Q9Y3Q4	HCN4_HUMAN	D	715	ENSP00000261917:G715D	ENSP00000261917:G715D	G	-	2	0	HCN4	71403343	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	5.660000	0.68018	0.654000	0.30846	0.313000	0.20887	GGC		0.562	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	Missense_Mutation	15	33	0	0	0	1	0	15	33				
TRIM13	10206	broad.mit.edu	37	13	50586765	50586765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586765G>A	ENST00000378182.3	+	2	1427	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000356017.4_Missense_Mutation_p.R233Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000457662.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000298772.5_Missense_Mutation_p.R233Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	230					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAGGAGCAACGGATGGCCTTT	0.403																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(688-690)cGg>cAg		tripartite motif containing 13							78.0	70.0	73.0					13																	50586765		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586765G>A	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.689G>A	13.37:g.50586765G>A	ENSP00000367424:p.Arg230Gln					TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.R233Q|TRIM13_ENST00000298772.5_Missense_Mutation_p.R233Q	p.R230Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	1427	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	230					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.689G>A	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848352	0.71603	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.25912	2.29;1.77;1.77;2.31;1.77;2.31	5.61	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	L	0.34521	1.04	0.47407	D	0.999419	P;P	0.39624	0.553;0.681	B;B	0.33960	0.084;0.173	T	0.02596	-1.1136	9	.	.	.	-3.712	14.4559	0.67416	0.0709:0.0:0.9291:0.0	.	230;233	O60858;O60858-3	TRI13_HUMAN;.	Q	230;230;230;233;230;233	ENSP00000367425:R230Q;ENSP00000412943:R230Q;ENSP00000367424:R230Q;ENSP00000348299:R233Q;ENSP00000399206:R230Q;ENSP00000298772:R233Q	.	R	+	2	0	TRIM13	49484766	0.999000	0.42202	0.956000	0.39512	0.989000	0.77384	4.426000	0.59882	1.363000	0.46019	0.655000	0.94253	CGG		0.403	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		21	50	0	0	0	1	0	21	50				
LMO7	4008	broad.mit.edu	37	13	76427474	76427474	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76427474G>A	ENST00000321797.8	+	26	4633	c.3912G>A	c.(3910-3912)ccG>ccA	p.P1304P	LMO7_ENST00000526202.1_Silent_p.P1181P|LMO7_ENST00000377534.3_Silent_p.P1589P|LMO7_ENST00000465261.2_Silent_p.P1304P|LMO7_ENST00000341547.4_Silent_p.P1255P|LMO7_ENST00000357063.3_Silent_p.P1589P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1589					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCACCCCGAGAAGCCATT	0.577																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4765-4767)ccG>ccA		LIM domain 7							49.0	42.0	44.0					13																	76427474		2203	4300	6503	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427474G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3912G>A	13.37:g.76427474G>A						LMO7_ENST00000526202.1_Silent_p.P1181P|LMO7_ENST00000377534.3_Silent_p.P1589P|LMO7_ENST00000321797.8_Silent_p.P1304P|LMO7_ENST00000465261.2_Silent_p.P1304P|LMO7_ENST00000341547.4_Silent_p.P1255P	p.P1589P			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	29	6027	+		Breast(118;0.0992)	1589					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.4767G>A																																																																																					0.577	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		10	15	0	0	0	1	0	10	15				
IQCA1	79781	broad.mit.edu	37	2	237272517	237272517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237272517G>A	ENST00000409907.3	-	15	2049	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	IQCA1_ENST00000431676.2_Missense_Mutation_p.T551M|IQCA1_ENST00000309507.5_Missense_Mutation_p.T589M	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	592							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTTGGCTCCCGTTTCGGTGCA	0.517																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(1774-1776)aCg>aTg		IQ motif containing with AAA domain 1							180.0	178.0	179.0					2																	237272517		1998	4159	6157	SO:0001583	missense	79781						ATP binding	g.chr2:237272517G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1775C>T	2.37:g.237272517G>A	ENSP00000387347:p.Thr592Met					IQCA1_ENST00000431676.2_Missense_Mutation_p.T551M|IQCA1_ENST00000309507.5_Missense_Mutation_p.T589M	p.T592M			Q86XH1	IQCA1_HUMAN			15	2049	-			592					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.1775C>T	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635622	0.87760	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.87809	-2.3;-2.3;-2.3	4.66	4.66	0.58398	ATPase, AAA-type, core (1);	0.000000	0.64402	D	0.000006	D	0.92655	0.7666	M	0.67625	2.065	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.992	D	0.93416	0.6773	10	0.62326	D	0.03	.	17.5595	0.87902	0.0:0.0:1.0:0.0	.	551;600;592	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	M	592;600;589;551;589	ENSP00000387347:T592M;ENSP00000311951:T589M;ENSP00000407213:T551M	ENSP00000254653:T593M	T	-	2	0	IQCA1	236937256	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	9.607000	0.98328	2.128000	0.65567	0.561000	0.74099	ACG		0.517	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		6	99	0	0	0	1	0	6	99				
FAT1	2195	broad.mit.edu	37	4	187521066	187521066	+	Missense_Mutation	SNP	G	G	A	rs572074365		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187521066G>A	ENST00000441802.2	-	22	12298	c.12089C>T	c.(12088-12090)cCg>cTg	p.P4030L	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4030	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGTGACGGATTGCAAAC	0.512										HNSCC(5;0.00058)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17854	0.0		0.0	False		,,,				2504	0.001				Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12088-12090)cCg>cTg		FAT atypical cadherin 1							46.0	46.0	46.0					4																	187521066		1963	4134	6097	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521066G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12089C>T	4.37:g.187521066G>A	ENSP00000406229:p.Pro4030Leu	HNSCC(5;0.00058)					p.P4030L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	12298	-			4030			EGF-like 2.			Missense_Mutation	SNP	ENST00000441802.2	37	c.12089C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992257	0.35131	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.84944	-1.92	5.0	3.29	0.37713	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.249462	0.41500	N	0.000880	T	0.73009	0.3532	L	0.28694	0.88	0.36690	D	0.879533	P	0.43024	0.798	B	0.34301	0.179	T	0.73764	-0.3880	10	0.30854	T	0.27	.	11.8927	0.52638	0.142:0.0:0.858:0.0	.	4030	Q14517	FAT1_HUMAN	L	4030;4032	ENSP00000406229:P4030L	ENSP00000260147:P4032L	P	-	2	0	FAT1	187758060	0.984000	0.35163	0.017000	0.16124	0.001000	0.01503	2.857000	0.48349	0.821000	0.34540	-0.126000	0.14955	CCG		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	28	0	0	0	1	0	13	28				
ZNF765	91661	broad.mit.edu	37	19	53912162	53912162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912162A>C	ENST00000396408.3	+	4	1471	c.1354A>C	c.(1354-1356)Aac>Cac	p.N452H	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCAAATCAAACCTTGAAAT	0.388																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1354-1356)Aac>Cac		zinc finger protein 765							84.0	90.0	88.0					19																	53912162		2203	4300	6503	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912162A>C	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1354A>C	19.37:g.53912162A>C	ENSP00000379689:p.Asn452His					ZNF765_ENST00000594030.1_Intron	p.N452H	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1471	+			452					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1354A>C	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.088943	0.00367	.	.	ENSG00000196417	ENST00000396408	T	0.03860	3.78	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.49263	-0.8958	8	.	.	.	.	5.2956	0.15751	0.4471:0.5529:0.0:0.0	.	452	Q7L2R6	ZN765_HUMAN	H	452	ENSP00000379689:N452H	.	N	+	1	0	ZNF765	58603974	0.000000	0.05858	0.017000	0.16124	0.400000	0.30750	-3.073000	0.00617	0.396000	0.25283	0.148000	0.16107	AAC		0.388	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		25	39	0	0	0	1	0	25	39				
TTC26	79989	broad.mit.edu	37	7	138872160	138872160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138872160G>T	ENST00000464848.1	+	17	1508	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H	TTC26_ENST00000478836.2_Missense_Mutation_p.Q369H|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000495038.1_Missense_Mutation_p.Q345H|TTC26_ENST00000343187.4_Missense_Mutation_p.Q445H			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	476					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGATGGGCCAGTTTTACTATT	0.433																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(1426-1428)caG>caT		tetratricopeptide repeat domain 26							180.0	171.0	174.0					7																	138872160		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138872160G>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1428G>T	7.37:g.138872160G>T	ENSP00000419279:p.Gln476His					TTC26_ENST00000495038.1_Missense_Mutation_p.Q345H|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Missense_Mutation_p.Q369H|TTC26_ENST00000343187.4_Missense_Mutation_p.Q445H	p.Q476H			A0AVF1	TTC26_HUMAN			17	1508	+			476					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.1428G>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281082	0.23392	.	.	ENSG00000105948	ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.89	4.0	0.46444	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	N	0.25286	0.73	0.80722	D	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.12837	0.008;0.001;0.0	T	0.05550	-1.0878	10	0.33141	T	0.24	.	7.9936	0.30254	0.088:0.1609:0.7511:0.0	.	345;445;476	B7Z2T3;F8W724;A0AVF1	.;.;TTC26_HUMAN	H	345;369;476;445	ENSP00000418788:Q345H;ENSP00000419178:Q369H;ENSP00000419279:Q476H;ENSP00000339135:Q445H	ENSP00000339135:Q445H	Q	+	3	2	TTC26	138522700	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.550000	0.82173	1.043000	0.40175	0.467000	0.42956	CAG		0.433	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		51	139	1	0	1.4374e-25	1	1.9118e-25	51	139				
MAP2	4133	broad.mit.edu	37	2	210558266	210558266	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210558266A>C	ENST00000360351.4	+	7	1878	c.1372A>C	c.(1372-1374)Aaa>Caa	p.K458Q	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K454Q|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	458					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCTGTGCCAAAAGAGAGTAA	0.438																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1372-1374)Aaa>Caa		microtubule-associated protein 2	Estramustine(DB01196)						54.0	58.0	57.0					2																	210558266		2202	4299	6501	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558266A>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1372A>C	2.37:g.210558266A>C	ENSP00000353508:p.Lys458Gln					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K454Q	p.K458Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1878	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	458					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1372A>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	9.360	1.067742	0.20067	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.25414	1.8;1.8;1.8	6.16	0.567	0.17325	MAP2/Tau projection (1);	0.257811	0.33895	N	0.004441	T	0.18964	0.0455	L	0.43152	1.355	0.80722	D	1	B;B	0.25809	0.111;0.135	B;B	0.29942	0.066;0.109	T	0.04537	-1.0944	10	0.44086	T	0.13	-8.765	5.7054	0.17905	0.5833:0.2579:0.1588:0.0	.	454;458	P11137-3;P11137	.;MAP2_HUMAN	Q	458;540;454	ENSP00000353508:K458Q;ENSP00000409969:K540Q;ENSP00000392164:K454Q	ENSP00000353508:K458Q	K	+	1	0	MAP2	210266511	0.264000	0.24093	0.251000	0.24312	0.782000	0.44232	0.695000	0.25527	0.131000	0.18576	0.528000	0.53228	AAA		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		7	50	0	0	0	1	0	7	50				
ANKS6	203286	broad.mit.edu	37	9	101530377	101530377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101530377C>T	ENST00000353234.4	-	11	2175	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	ANKS6_ENST00000375019.2_Missense_Mutation_p.A409T|ANKS6_ENST00000375018.1_Missense_Mutation_p.A710T|ANKS6_ENST00000540940.1_Missense_Mutation_p.A515T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	710	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCAACAGGAGCGCTGCCACCT	0.602																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2128-2130)Gct>Act		ankyrin repeat and sterile alpha motif domain containing 6																																				SO:0001583	missense	203286							g.chr9:101530377C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2128G>A	9.37:g.101530377C>T	ENSP00000297837:p.Ala710Thr					ANKS6_ENST00000540940.1_Missense_Mutation_p.A515T|ANKS6_ENST00000375018.1_Missense_Mutation_p.A710T|ANKS6_ENST00000375019.2_Missense_Mutation_p.A409T	p.A710T			Q68DC2	ANKS6_HUMAN			11	2175	-		Acute lymphoblastic leukemia(62;0.0527)	710			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2128G>A	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.271|9.271	1.045570|1.045570	0.19748|0.19748	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.68025|.	1.89;-0.3;-0.28;2.12|.	5.51|5.51	-7.26|-7.26	0.01466|0.01466	.|.	2.189870|.	0.01446|.	N|.	0.015316|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.35076|0.35076	-0.9803|-0.9803	10|5	0.20519|.	T|.	0.43|.	15.4997|15.4997	10.1603|10.1603	0.42847|0.42847	0.0:0.1395:0.1104:0.7501|0.0:0.1395:0.1104:0.7501	.|.	710;710|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	T|H	409;710;710;515|178	ENSP00000364159:A409T;ENSP00000364158:A710T;ENSP00000297837:A710T;ENSP00000442189:A515T|.	ENSP00000297837:A710T|.	A|R	-|-	1|2	0|0	ANKS6|ANKS6	100570198|100570198	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.107000|0.107000	0.19398|0.19398	-0.988000|-0.988000	0.03739|0.03739	-1.012000|-1.012000	0.03387|0.03387	-0.459000|-0.459000	0.05422|0.05422	GCT|CGC		0.602	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		4	4	0	0	0	1	0	4	4				
PARD3B	117583	broad.mit.edu	37	2	205983694	205983694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:205983694C>T	ENST00000406610.2	+	7	937	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PARD3B_ENST00000462231.1_Missense_Mutation_p.R244W|PARD3B_ENST00000358768.2_Missense_Mutation_p.R244W|PARD3B_ENST00000351153.1_Missense_Mutation_p.R244W|PARD3B_ENST00000349953.3_Missense_Mutation_p.R244W	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	244	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGGTCCAAGCGGGAGGGACT	0.333																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(730-732)Cgg>Tgg		par-3 family cell polarity regulator beta							91.0	88.0	89.0					2																	205983694		1857	4097	5954	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205983694C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.730C>T	2.37:g.205983694C>T	ENSP00000385848:p.Arg244Trp					PARD3B_ENST00000351153.1_Missense_Mutation_p.R244W|PARD3B_ENST00000462231.1_Missense_Mutation_p.R244W|PARD3B_ENST00000349953.3_Missense_Mutation_p.R244W|PARD3B_ENST00000358768.2_Missense_Mutation_p.R244W	p.R244W	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	937	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	244			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.730C>T		.	.	.	.	.	.	.	.	.	.	C	18.52	3.642881	0.67244	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.64	3.73	0.42828	PDZ/DHR/GLGF (3);	0.191794	0.44902	D	0.000417	T	0.44767	0.1309	M	0.74258	2.255	0.38350	D	0.944325	D;D;D;D;D	0.89917	1.0;0.999;0.995;0.997;0.997	D;D;P;P;D	0.64595	0.927;0.912;0.696;0.901;0.924	T	0.54556	-0.8276	10	0.87932	D	0	.	15.0157	0.71581	0.288:0.712:0.0:0.0	.	244;244;244;244;244	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	W	244	ENSP00000385848:R244W;ENSP00000351618:R244W;ENSP00000317261:R244W;ENSP00000340280:R244W	ENSP00000340280:R244W	R	+	1	2	PARD3B	205691939	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	1.677000	0.37576	0.663000	0.31027	0.650000	0.86243	CGG		0.333	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		27	45	0	0	0	1	0	27	45				
MDC1	9656	broad.mit.edu	37	6	30671921	30671921	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671921T>C	ENST00000376406.3	-	10	5686	c.5039A>G	c.(5038-5040)cAg>cGg	p.Q1680R	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.Q1416R	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1680					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTTTTGCTCTGACCACCCTG	0.542								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5038-5040)cAg>cGg	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							104.0	111.0	108.0					6																	30671921		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671921T>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5039A>G	6.37:g.30671921T>C	ENSP00000365588:p.Gln1680Arg					MDC1_ENST00000376405.2_Missense_Mutation_p.Q1416R|MDC1-AS1_ENST00000442150.1_RNA	p.Q1680R	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5686	-			1680					A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5039A>G	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.608385	0.28623	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03689	3.84;3.84	3.83	-0.159	0.13379	.	0.253659	0.20835	N	0.084811	T	0.01189	0.0039	M	0.72894	2.215	0.09310	N	1	B;B	0.31680	0.335;0.226	B;B	0.37833	0.259;0.093	T	0.47837	-0.9086	10	0.08599	T	0.76	-0.0233	1.037	0.01551	0.1897:0.1087:0.1967:0.5049	.	1416;1680	Q14676-2;Q14676	.;MDC1_HUMAN	R	1680;1416;1393;1246	ENSP00000365588:Q1680R;ENSP00000365587:Q1416R	ENSP00000365587:Q1416R	Q	-	2	0	MDC1	30779900	0.392000	0.25229	0.003000	0.11579	0.458000	0.32498	0.336000	0.19823	-0.009000	0.14296	0.369000	0.22263	CAG		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		37	53	0	0	0	1	0	37	53				
UBE4B	10277	broad.mit.edu	37	1	10195195	10195195	+	Silent	SNP	G	G	A	rs146689339		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10195195G>A	ENST00000253251.8	+	15	2627	c.1788G>A	c.(1786-1788)acG>acA	p.T596T	UBE4B_ENST00000377157.3_Silent_p.T480T|UBE4B_ENST00000343090.6_Silent_p.T725T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATGATGAGACGCGTGTGAATG	0.443																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1438-1440)acG>acA		ubiquitination factor E4B		G	,	0,4406		0,0,2203	143.0	122.0	129.0		2175,1788	-12.1	0.0	1	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	UBE4B	NM_001105562.2,NM_006048.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	725/1303,596/1174	10195195	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10195195G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1788G>A	1.37:g.10195195G>A						UBE4B_ENST00000343090.6_Silent_p.T725T|UBE4B_ENST00000253251.8_Silent_p.T596T	p.T480T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	15	2501	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	725						Silent	SNP	ENST00000253251.8	37	c.1440G>A	CCDS110.1																																																																																				0.443	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		3	27	0	0	0	1	0	3	27				
INADL	10207	broad.mit.edu	37	1	62330279	62330279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62330279C>T	ENST00000371158.2	+	20	2923	c.2809C>T	c.(2809-2811)Ccg>Tcg	p.P937S	INADL_ENST00000316485.6_Missense_Mutation_p.P937S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	937					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAGGCACAGCCGTATGGCTA	0.483																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(2809-2811)Ccg>Tcg		InaD-like (Drosophila)							76.0	82.0	80.0					1																	62330279		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62330279C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2809C>T	1.37:g.62330279C>T	ENSP00000360200:p.Pro937Ser					INADL_ENST00000316485.6_Missense_Mutation_p.P937S	p.P937S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			20	2923	+			937					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2809C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706564	0.30232	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.11385	2.87;2.78	4.38	2.47	0.30058	.	0.677816	0.13164	N	0.408828	T	0.06371	0.0164	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.14578	0.002;0.001;0.011	T	0.43032	-0.9416	10	0.18710	T	0.47	.	5.1123	0.14815	0.0:0.4857:0.3307:0.1836	.	937;937;937	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	S	937	ENSP00000360200:P937S;ENSP00000326199:P937S	ENSP00000255202:P937S	P	+	1	0	INADL	62102867	0.046000	0.20272	0.006000	0.13384	0.393000	0.30537	1.171000	0.31896	0.573000	0.29400	0.555000	0.69702	CCG		0.483	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		29	38	0	0	0	1	0	29	38				
PRR14	78994	broad.mit.edu	37	16	30666150	30666150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666150G>A	ENST00000542965.2	+	7	1315	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PRR14_ENST00000300835.4_Missense_Mutation_p.A287T|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	287	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GTTGAAGATCGCCATCTCAGA	0.637																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(859-861)Gcc>Acc		proline rich 14							27.0	30.0	29.0					16																	30666150		2197	4298	6495	SO:0001583	missense	78994							g.chr16:30666150G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.859G>A	16.37:g.30666150G>A	ENSP00000441641:p.Ala287Thr					PRR14_ENST00000300835.4_Missense_Mutation_p.A287T|PRR14_ENST00000571654.1_3'UTR	p.A287T			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1315	+			287			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.859G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549725	0.86127	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.58652	0.32;0.32	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000020	T	0.75679	0.3882	M	0.69823	2.125	0.39592	D	0.969601	D	0.89917	1.0	D	0.87578	0.998	T	0.77843	-0.2437	10	0.62326	D	0.03	-17.7782	16.8596	0.86014	0.0:0.0:1.0:0.0	.	287	Q9BWN1	PRR14_HUMAN	T	260;287;287	ENSP00000300835:A287T;ENSP00000441641:A287T	ENSP00000287463:A260T	A	+	1	0	PRR14	30573651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.784000	0.55416	2.716000	0.92895	0.643000	0.83706	GCC		0.637	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		11	12	0	0	0	1	0	11	12				
PSMD2	5708	broad.mit.edu	37	3	184026613	184026613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184026613C>A	ENST00000310118.4	+	21	3220	c.2662C>A	c.(2662-2664)Ctt>Att	p.L888I	PSMD2_ENST00000439383.1_Missense_Mutation_p.L758I|PSMD2_ENST00000435761.1_Missense_Mutation_p.L729I|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	888					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.L888F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGAGGAGTTTCTTCCTGTTAC	0.527											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			1	Substitution - Missense(1)	p.L888F(1)	cervix(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(2662-2664)Ctt>Att		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						120.0	124.0	123.0					3																	184026613		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184026613C>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2662C>A	3.37:g.184026613C>A	ENSP00000310129:p.Leu888Ile		OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.L729I|PSMD2_ENST00000439383.1_Missense_Mutation_p.L758I	p.L888I	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	3220	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		888					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.2662C>A	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	2.298	-0.360750	0.05103	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.39406	1.08;1.08;1.08	5.72	3.91	0.45181	.	0.136911	0.49916	D	0.000137	T	0.10294	0.0252	N	0.00778	-1.195	0.46701	D	0.99916	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.38628	-0.9652	10	0.02654	T	1	-12.474	4.921	0.13869	0.1329:0.6208:0.1294:0.1169	.	729;888	E9PCS3;Q13200	.;PSMD2_HUMAN	I	888;560;880;729;758	ENSP00000310129:L888I;ENSP00000402618:L729I;ENSP00000416028:L758I	ENSP00000310129:L888I	L	+	1	0	PSMD2	185509307	0.854000	0.29725	1.000000	0.80357	0.997000	0.91878	0.412000	0.21131	2.691000	0.91804	0.655000	0.94253	CTT		0.527	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		53	71	1	0	1.39843e-22	1	1.84661e-22	53	71				
SLC6A9	6536	broad.mit.edu	37	1	44476507	44476507	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44476507T>C	ENST00000360584.2	-	3	488	c.297A>G	c.(295-297)aaA>aaG	p.K99K	SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372310.3_Silent_p.K26K|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Silent_p.K26K|SLC6A9_ENST00000357730.2_Silent_p.K45K|SLC6A9_ENST00000372307.3_5'UTR	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	99					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGTTGCCCCGTTTGAGGTTCT	0.587																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(76-78)aaA>aaG		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						211.0	168.0	183.0					1																	44476507		2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44476507T>C	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.297A>G	1.37:g.44476507T>C						SLC6A9_ENST00000360584.2_Silent_p.K99K|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372306.3_Silent_p.K26K|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000357730.2_Silent_p.K45K|SLC6A9_ENST00000537678.1_Intron	p.K26K	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			3	243	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	99					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.78A>G	CCDS41317.1																																																																																				0.587	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		19	37	0	0	0	1	0	19	37				
CENPF	1063	broad.mit.edu	37	1	214791928	214791928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214791928G>T	ENST00000366955.3	+	4	540	c.372G>T	c.(370-372)gaG>gaT	p.E124D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTAAATCTGAGCTTGAAAGAA	0.403																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(370-372)gaG>gaT		centromere protein F, 350/400kDa							110.0	110.0	110.0					1																	214791928		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214791928G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.372G>T	1.37:g.214791928G>T	ENSP00000355922:p.Glu124Asp						p.E124D	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	4	540	+			124			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.372G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639835	0.67244	.	.	ENSG00000117724	ENST00000366955	T	0.28255	1.62	5.28	-5.0	0.03001	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.37530	N	0.002054	T	0.35885	0.0947	.	.	.	0.30829	N	0.736919	D	0.56968	0.978	P	0.56612	0.802	T	0.37641	-0.9697	9	0.41790	T	0.15	.	10.4246	0.44369	0.3339:0.1156:0.5506:0.0	.	124	P49454	CENPF_HUMAN	D	124	ENSP00000355922:E124D	ENSP00000355922:E124D	E	+	3	2	CENPF	212858551	0.987000	0.35691	0.826000	0.32828	0.988000	0.76386	0.071000	0.14594	-1.214000	0.02614	-0.339000	0.08088	GAG		0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		46	53	1	0	9.52127e-25	1	1.26392e-24	46	53				
PRR19	284338	broad.mit.edu	37	19	42813973	42813973	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42813973C>T	ENST00000499536.2	+	1	1048	c.237C>T	c.(235-237)caC>caT	p.H79H	PRR19_ENST00000341747.3_Silent_p.H79H|PRR19_ENST00000598490.1_Silent_p.H79H			A6NJB7	PRR19_HUMAN	proline rich 19	79										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TCTTCAACCACGAGGTGAAAT	0.647																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(235-237)caC>caT		proline rich 19							80.0	93.0	88.0					19																	42813973		2203	4300	6503	SO:0001819	synonymous_variant	284338							g.chr19:42813973C>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.237C>T	19.37:g.42813973C>T						PRR19_ENST00000598490.1_Silent_p.H79H|PRR19_ENST00000341747.3_Silent_p.H79H	p.H79H			A6NJB7	PRR19_HUMAN			1	1048	+		Prostate(69;0.00682)	79					A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	37	c.237C>T	CCDS33036.1																																																																																				0.647	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		47	103	0	0	0	1	0	47	103				
LEMD2	221496	broad.mit.edu	37	6	33740543	33740543	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33740543C>A	ENST00000293760.5	-	9	1393	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	LEMD2_ENST00000508327.1_Missense_Mutation_p.K156N	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	458					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCCAGACACGCTTCATGCGCC	0.622																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1372-1374)aaG>aaT		LEM domain containing 2							52.0	42.0	45.0					6																	33740543		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33740543C>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1374G>T	6.37:g.33740543C>A	ENSP00000293760:p.Lys458Asn					LEMD2_ENST00000508327.1_Missense_Mutation_p.K156N	p.K458N	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			9	1393	-			458					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1374G>T	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943295	0.73672	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.35	3.55	0.40652	Inner nuclear membrane protein MAN1 (1);	0.087770	0.49305	N	0.000153	T	0.57621	0.2066	L	0.55481	1.735	0.45718	D	0.998621	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.55673	-0.8104	9	0.27785	T	0.31	-8.4963	11.8737	0.52536	0.0:0.8573:0.0:0.1427	.	458;419	Q8NC56;A8MS91	LEMD2_HUMAN;.	N	40;458;156	.	ENSP00000293760:K458N	K	-	3	2	LEMD2	33848521	1.000000	0.71417	0.996000	0.52242	0.660000	0.38997	2.573000	0.46007	0.602000	0.29896	0.563000	0.77884	AAG		0.622	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		6	12	1	0	0.00198382	1	0.00210581	6	12				
PHTF2	57157	broad.mit.edu	37	7	77569596	77569596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569596G>A	ENST00000248550.7	+	13	1793	c.1717G>A	c.(1717-1719)Gta>Ata	p.V573I	PHTF2_ENST00000416283.2_Missense_Mutation_p.V539I|PHTF2_ENST00000275575.7_Missense_Mutation_p.V535I|PHTF2_ENST00000422959.2_Missense_Mutation_p.V539I|PHTF2_ENST00000424760.1_Missense_Mutation_p.V535I|PHTF2_ENST00000307305.8_Missense_Mutation_p.V535I			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTGCTCTGTGTAGCAGAAAG	0.308																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1615-1617)Gta>Ata		putative homeodomain transcription factor 2							151.0	140.0	143.0					7																	77569596		1805	4077	5882	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569596G>A	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1717G>A	7.37:g.77569596G>A	ENSP00000248550:p.Val573Ile					PHTF2_ENST00000248550.7_Missense_Mutation_p.V573I|PHTF2_ENST00000422959.2_Missense_Mutation_p.V539I|PHTF2_ENST00000424760.1_Missense_Mutation_p.V535I|PHTF2_ENST00000307305.8_Missense_Mutation_p.V535I|PHTF2_ENST00000275575.7_Missense_Mutation_p.V535I	p.V539I	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1741	+			573					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1615G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.182646	0.94885	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.77592	0.4153	L	0.59436	1.845	0.80722	D	1	D;D;D;B;P;D	0.89917	0.996;0.996;0.997;0.418;0.812;1.0	D;D;D;B;P;D	0.85130	0.99;0.99;0.99;0.189;0.699;0.997	T	0.76721	-0.2855	9	0.49607	T	0.09	-16.9444	19.5448	0.95287	0.0:0.0:1.0:0.0	.	334;535;539;573;535;535	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	I	539;539;535;535;535;539;573	.	ENSP00000248550:V573I	V	+	1	0	PHTF2	77407532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.653000	0.98506	2.616000	0.88540	0.557000	0.71058	GTA		0.308	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		40	119	0	0	0	1	0	40	119				
TRAPPC5	126003	broad.mit.edu	37	19	7747355	7747355	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747355C>T	ENST00000317378.5	+	2	403	c.216C>T	c.(214-216)cgC>cgT	p.R72R	CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.A131V|TRAPPC5_ENST00000426877.2_Silent_p.R72R|TRAPPC5_ENST00000596148.1_Silent_p.R72R|TRAPPC5_ENST00000595985.1_Intron	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	72					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						TGGTGGCGCGCGAAAAGGGTG	0.711																																						ENST00000597959.1																			0											c.(391-393)gCg>gTg									18.0	20.0	20.0					19																	7747355		2110	4202	6312	SO:0001819	synonymous_variant	0							g.chr19:7747355C>T	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.216C>T	19.37:g.7747355C>T						TRAPPC5_ENST00000426877.2_Silent_p.R72R|TRAPPC5_ENST00000317378.5_Silent_p.R72R|TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000596148.1_Silent_p.R72R	p.A131V							3	392	+								A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	37	c.392C>T	CCDS42490.1																																																																																				0.711	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		8	5	0	0	0	1	0	8	5				
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	G	A	rs551032620		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.0	False		,,,				2504	0.001					ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1951-1953)tcG>tcA		zinc finger protein 175							83.0	77.0	79.0					19																	52091537		2203	4300	6503	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091537G>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1953G>A	19.37:g.52091537G>A						ZNF175_ENST00000436511.2_Intron	p.S651S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2311	+		all_neural(266;0.0299)	651					A8K9H2	Silent	SNP	ENST00000262259.2	37	c.1953G>A	CCDS12837.1																																																																																				0.438	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		29	50	0	0	0	1	0	29	50				
BCOR	54880	broad.mit.edu	37	X	39922014	39922014	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39922014C>A	ENST00000378444.4	-	9	4386	c.4158G>T	c.(4156-4158)gaG>gaT	p.E1386D	BCOR_ENST00000378455.4_Missense_Mutation_p.E1334D|BCOR_ENST00000378463.1_Missense_Mutation_p.E229D|BCOR_ENST00000397354.3_Missense_Mutation_p.E1352D|BCOR_ENST00000342274.4_Missense_Mutation_p.E1352D	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1386					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATCGGCATTCTCCACGTAGT	0.582			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4054-4056)gaG>gaT		BCL6 corepressor							103.0	73.0	83.0					X																	39922014		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922014C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4158G>T	X.37:g.39922014C>A	ENSP00000367705:p.Glu1386Asp					BCOR_ENST00000378444.4_Missense_Mutation_p.E1386D|BCOR_ENST00000397354.3_Missense_Mutation_p.E1352D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1334D|BCOR_ENST00000378463.1_Missense_Mutation_p.E229D	p.E1352D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			9	4418	-			1386					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.4056G>T	CCDS48093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.424|9.424	1.083702|1.083702	0.20309|0.20309	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018|ENST00000427012	T;T;T;T;T;T;T|.	0.70282|.	-0.47;0.92;1.0;0.98;0.97;0.98;-0.44|.	6.08|6.08	-2.11|-2.11	0.07187|0.07187	.|.	.|.	.|.	.|.	.|.	T|T	0.31575|0.31575	0.0801|0.0801	N|N	0.12746|0.12746	0.255|0.255	0.38273|0.38273	D|D	0.94221|0.94221	B;B;B|.	0.16603|.	0.005;0.018;0.005|.	B;B;B|.	0.13407|.	0.005;0.009;0.005|.	T|T	0.12553|0.12553	-1.0543|-1.0543	9|5	0.45353|.	T|.	0.12|.	-10.6839|-10.6839	8.2113|8.2113	0.31486|0.31486	0.0:0.3364:0.411:0.2526|0.0:0.3364:0.411:0.2526	.|.	1334;1386;1352|.	Q6W2J9-4;Q6W2J9;Q6W2J9-2|.	.;BCOR_HUMAN;.|.	D|I	256;229;1334;1352;1386;1352;59|81	ENSP00000408006:E256D;ENSP00000367724:E229D;ENSP00000367716:E1334D;ENSP00000380512:E1352D;ENSP00000367705:E1386D;ENSP00000345923:E1352D;ENSP00000387552:E59D|.	ENSP00000345923:E1352D|.	E|R	-|-	3|2	2|0	BCOR|BCOR	39806958|39806958	0.996000|0.996000	0.38824|0.38824	0.324000|0.324000	0.25361|0.25361	0.859000|0.859000	0.49053|0.49053	0.207000|0.207000	0.17395|0.17395	-0.485000|-0.485000	0.06754|0.06754	-0.192000|-0.192000	0.12808|0.12808	GAG|AGA		0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		5	21	1	0	5.9392e-07	1	6.91975e-07	5	21				
KDM6B	23135	broad.mit.edu	37	17	7752261	7752261	+	Silent	SNP	C	C	T	rs201637585		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7752261C>T	ENST00000448097.2	+	11	2986	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	KDM6B_ENST00000254846.5_Silent_p.G885G			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	885	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGGCGGGCGAAGAGCCAG	0.697													C|||	1	0.000199681	0.0	0.0014	5008	,	,		5917	0.0		0.0	False		,,,				2504	0.0					ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2653-2655)ggC>ggT		lysine (K)-specific demethylase 6B							6.0	8.0	8.0					17																	7752261		1842	3861	5703	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752261C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2655C>T	17.37:g.7752261C>T						KDM6B_ENST00000448097.2_Silent_p.G885G	p.G885G	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3044	+			885			Pro-rich.		C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.2655C>T																																																																																					0.697	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		8	9	0	0	0	1	0	8	9				
HIVEP2	3097	broad.mit.edu	37	6	143081223	143081223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081223C>A	ENST00000367604.1	-	8	6841	c.6202G>T	c.(6202-6204)Gga>Tga	p.G2068*	HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.G2068*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.G2068*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2068	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATAAATCTCCTTTGGGTATC	0.463																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6202-6204)Gga>Tga		human immunodeficiency virus type I enhancer binding protein 2							85.0	81.0	82.0					6																	143081223		1860	4103	5963	SO:0001587	stop_gained	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081223C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6202G>T	6.37:g.143081223C>A	ENSP00000356576:p.Gly2068*					HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.G2068*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.G2068*	p.G2068*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6944	-			2068			10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].		Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	ENST00000367604.1	37	c.6202G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	51	17.437748	0.99886	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.63	4.77	0.60923	.	0.154213	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-17.5636	14.3282	0.66534	0.0:0.9291:0.0:0.0709	.	.	.	.	X	2068	.	ENSP00000012134:G2068X	G	-	1	0	HIVEP2	143122916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.539000	0.36104	1.398000	0.46701	0.585000	0.79938	GGA		0.463	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	57	1	0	0.00116845	1	0.00124821	5	57				
CHRNA4	1137	broad.mit.edu	37	20	61981752	61981752	+	Silent	SNP	C	C	T	rs200803878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981752C>T	ENST00000370263.4	-	5	1232	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	337					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCATGGTGTGCGTGCGTGGCG	0.622																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1009-1011)acG>acA		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						168.0	118.0	135.0					20																	61981752		2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981752C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1011G>A	20.37:g.61981752C>T						CHRNA4_ENST00000463705.1_5'UTR	p.T337T	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1232	-	all_cancers(38;1.71e-10)		337					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1011G>A	CCDS13517.1																																																																																				0.622	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			20	31	0	0	0	1	0	20	31				
FAM46B	115572	broad.mit.edu	37	1	27333309	27333309	+	Missense_Mutation	SNP	C	C	T	rs142455633		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27333309C>T	ENST00000289166.5	-	2	569	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	135										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCTCACTGCGCAGGTCCAC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16014	0.0		0.0	False		,,,				2504	0.0					ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(403-405)cGc>cAc		family with sequence similarity 46, member B		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	108.0	93.0	98.0		404	-5.8	0.4	1	dbSNP_134	98	0,8600		0,0,4300	yes	missense	FAM46B	NM_052943.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	135/426	27333309	2,13004	2203	4300	6503	SO:0001583	missense	115572							g.chr1:27333309C>T	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.404G>A	1.37:g.27333309C>T	ENSP00000289166:p.Arg135His						p.R135H	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	569	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	135						Missense_Mutation	SNP	ENST00000289166.5	37	c.404G>A	CCDS294.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.551	1.115871	0.20795	4.54E-4	0.0	ENSG00000158246	ENST00000289166	T	0.22945	1.93	5.07	-5.75	0.02384	Domain of unknown function DUF1693 (1);	1.261420	0.05045	N	0.477086	T	0.16938	0.0407	N	0.14661	0.345	0.09310	N	0.999998	B	0.09022	0.002	B	0.08055	0.003	T	0.32295	-0.9912	10	0.59425	D	0.04	-21.0909	15.4757	0.75478	0.0:0.1791:0.0:0.8209	.	135	Q96A09	FA46B_HUMAN	H	135	ENSP00000289166:R135H	ENSP00000289166:R135H	R	-	2	0	FAM46B	27205896	0.000000	0.05858	0.376000	0.26042	0.522000	0.34438	-0.494000	0.06451	-1.023000	0.03342	-0.742000	0.03525	CGC		0.637	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		29	42	0	0	0	1	0	29	42				
VPS13B	157680	broad.mit.edu	37	8	100830943	100830943	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100830943T>C	ENST00000358544.2	+	47	8634	c.8523T>C	c.(8521-8523)atT>atC	p.I2841I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I2816I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2841					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTATAGATTGTGTTCAGCC	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8521-8523)atT>atC		vacuolar protein sorting 13 homolog B (yeast)							110.0	114.0	112.0					8																	100830943		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100830943T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8523T>C	8.37:g.100830943T>C						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I2816I	p.I2841I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		47	8634	+	Breast(36;3.73e-07)		2841					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8523T>C	CCDS6280.1																																																																																				0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		17	186	0	0	0	1	0	17	186				
CENPF	1063	broad.mit.edu	37	1	214794038	214794038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214794038G>A	ENST00000366955.3	+	6	782	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGAATCACCGCGACATTGCC	0.428																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(613-615)cGc>cAc		centromere protein F, 350/400kDa							113.0	127.0	122.0					1																	214794038		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214794038G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.614G>A	1.37:g.214794038G>A	ENSP00000355922:p.Arg205His						p.R205H	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	6	782	+			205			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.614G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940628	0.92526	.	.	ENSG00000117724	ENST00000366955	T	0.29655	1.56	6.0	6.0	0.97389	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.32175	N	0.006466	T	0.60625	0.2283	.	.	.	0.38924	D	0.957791	D	0.89917	1.0	D	0.91635	0.999	T	0.61207	-0.7109	9	0.54805	T	0.06	.	20.4913	0.99204	0.0:0.0:1.0:0.0	.	205	P49454	CENPF_HUMAN	H	205	ENSP00000355922:R205H	ENSP00000355922:R205H	R	+	2	0	CENPF	212860661	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.040000	0.76551	2.846000	0.97976	0.603000	0.83216	CGC		0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		29	136	0	0	0	1	0	29	136				
WDFY1	57590	broad.mit.edu	37	2	224743434	224743434	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224743434G>A	ENST00000233055.4	-	12	1289	c.1187C>T	c.(1186-1188)aCa>aTa	p.T396I	WDFY1_ENST00000462702.1_5'Flank	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	396						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CACCACAGGTGTCATGTCCCA	0.517																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(1186-1188)aCa>aTa		WD repeat and FYVE domain containing 1							76.0	76.0	76.0					2																	224743434		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224743434G>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.1187C>T	2.37:g.224743434G>A	ENSP00000233055:p.Thr396Ile						p.T396I	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	12	1289	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	396					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.1187C>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400963	0.62177	.	.	ENSG00000085449	ENST00000233055	T	0.30714	1.52	5.54	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.097077	0.64402	D	0.000001	T	0.26774	0.0655	L	0.35854	1.095	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.03184	-1.1063	10	0.49607	T	0.09	-15.2053	14.4854	0.67614	0.0705:0.0:0.9295:0.0	.	396	Q8IWB7	WDFY1_HUMAN	I	396	ENSP00000233055:T396I	ENSP00000233055:T396I	T	-	2	0	WDFY1	224451678	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	6.117000	0.71577	1.341000	0.45600	0.650000	0.86243	ACA		0.517	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		8	13	0	0	0	1	0	8	13				
ZNF212	7988	broad.mit.edu	37	7	148947529	148947529	+	Nonsense_Mutation	SNP	C	C	T	rs367853642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148947529C>T	ENST00000335870.2	+	2	432	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GACCCTGCTGCAGGAGTATGG	0.652																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(304-306)Cag>Tag		zinc finger protein 212							79.0	89.0	86.0					7																	148947529		2203	4300	6503	SO:0001587	stop_gained	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947529C>T	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.304C>T	7.37:g.148947529C>T	ENSP00000338572:p.Gln102*						p.Q102*	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	432	+	Melanoma(164;0.15)		102					B2RCF4|Q13396|Q8N664	Nonsense_Mutation	SNP	ENST00000335870.2	37	c.304C>T	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	C	38	6.638990	0.97726	.	.	ENSG00000170260	ENST00000335870	.	.	.	5.95	5.95	0.96441	.	0.000000	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6061	15.879	0.79189	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000338572:Q102X	Q	+	1	0	ZNF212	148578462	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.413000	0.66399	2.826000	0.97356	0.563000	0.77884	CAG		0.652	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		20	144	0	0	0	1	0	20	144				
PLEKHO1	51177	broad.mit.edu	37	1	150128391	150128391	+	Silent	SNP	C	C	T	rs374179008		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150128391C>T	ENST00000369124.4	+	3	587	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Silent_p.P103P|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	103	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAACAGCCCGGTAACACGG	0.527																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(307-309)ccC>ccT		pleckstrin homology domain containing, family O member 1							72.0	69.0	70.0					1																	150128391		2203	4300	6503	SO:0001819	synonymous_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150128391C>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.309C>T	1.37:g.150128391C>T						PLEKHO1_ENST00000025469.6_Silent_p.P103P|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR	p.P103P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	587	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		103			PH.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	ENST00000369124.4	37	c.309C>T	CCDS945.1																																																																																				0.527	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		32	41	0	0	0	1	0	32	41				
AHR	196	broad.mit.edu	37	7	17379003	17379003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17379003G>T	ENST00000242057.4	+	10	2197	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	518					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ACCAGCCTCAGGATGTGAACT	0.393																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1552-1554)caG>caT		aryl hydrocarbon receptor							84.0	85.0	85.0					7																	17379003		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379003G>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1554G>T	7.37:g.17379003G>T	ENSP00000242057:p.Gln518His					AHR_ENST00000492120.1_3'UTR	p.Q518H	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2197	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		518					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1554G>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010095	0.19277	.	.	ENSG00000106546	ENST00000242057	T	0.26067	1.76	6.02	-1.53	0.08611	.	0.305300	0.31976	N	0.006765	T	0.26955	0.0660	M	0.79693	2.465	0.43835	D	0.99641	B	0.22480	0.07	B	0.24269	0.052	T	0.10200	-1.0640	10	0.51188	T	0.08	.	8.3204	0.32126	0.3719:0.1058:0.5223:0.0	.	518	P35869	AHR_HUMAN	H	518	ENSP00000242057:Q518H	ENSP00000242057:Q518H	Q	+	3	2	AHR	17345528	0.997000	0.39634	0.965000	0.40720	0.071000	0.16799	0.487000	0.22356	-0.044000	0.13491	0.650000	0.86243	CAG		0.393	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		28	109	1	0	4.22769e-11	1	5.25533e-11	28	109				
GLI3	2737	broad.mit.edu	37	7	42005448	42005448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42005448G>T	ENST00000395925.3	-	15	3307	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1075					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGGACTCCAGGGTGACGTTC	0.587									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3223-3225)Ctg>Atg		GLI family zinc finger 3							71.0	73.0	73.0					7																	42005448		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005448G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3223C>A	7.37:g.42005448G>T	ENSP00000379258:p.Leu1075Met					GLI3_ENST00000479210.1_5'UTR	p.L1075M	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3307	-			1075					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3223C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	1.480	-0.557448	0.03967	.	.	ENSG00000106571	ENST00000395925	T	0.12465	2.68	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	N	0.12663	0.25	0.80722	D	1	B	0.23937	0.094	B	0.23852	0.049	T	0.14811	-1.0459	10	0.02654	T	1	.	9.8191	0.40871	0.0732:0.0:0.7878:0.139	.	1075	P10071	GLI3_HUMAN	M	1075	ENSP00000379258:L1075M	ENSP00000379258:L1075M	L	-	1	2	GLI3	41971973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.248000	0.32827	1.306000	0.44926	0.563000	0.77884	CTG		0.587	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		4	67	1	0	1.024e-07	1	1.214e-07	4	67				
SPATA5	166378	broad.mit.edu	37	4	124177314	124177314	+	Silent	SNP	C	C	T	rs76934283	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124177314C>T	ENST00000274008.4	+	15	2553	c.2484C>T	c.(2482-2484)acC>acT	p.T828T		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	828					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCTTCAAACCGACGCATACT	0.448																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2482-2484)acC>acT		spermatogenesis associated 5							120.0	112.0	115.0					4																	124177314		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124177314C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2484C>T	4.37:g.124177314C>T							p.T828T	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			15	2553	+			828					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.2484C>T	CCDS3730.1																																																																																				0.448	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		23	38	0	0	0	1	0	23	38				
MICAL2	9645	broad.mit.edu	37	11	12278494	12278494	+	Missense_Mutation	SNP	G	G	A	rs61729668	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12278494G>A	ENST00000256194.4	+	24	3406	c.3118G>A	c.(3118-3120)Gcc>Acc	p.A1040T	MICAL2_ENST00000527546.1_Missense_Mutation_p.A850T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1019T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A850T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A814T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1040	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCCTGGCCGCCTACACCTT	0.632													G|||	5	0.000998403	0.003	0.0	5008	,	,		19059	0.0		0.001	False		,,,				2504	0.0					ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3118-3120)Gcc>Acc		microtubule associated monooxygenase, calponin and LIM domain containing 2		G	THR/ALA	8,4394	14.3+/-33.2	0,8,2193	75.0	64.0	68.0		3118	0.0	0.7	11	dbSNP_129	68	1,8587	1.2+/-3.3	0,1,4293	yes	missense	MICAL2	NM_014632.2	58	0,9,6486	AA,AG,GG		0.0116,0.1817,0.0693	benign	1040/1125	12278494	9,12981	2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12278494G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3118G>A	11.37:g.12278494G>A	ENSP00000256194:p.Ala1040Thr					MICAL2_ENST00000537344.1_Missense_Mutation_p.A850T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A814T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1019T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A850T	p.A1040T	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	24	3406	+			1040			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.3118G>A	CCDS7809.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.860	0.946717	0.18356	0.001817	1.16E-4	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.17	0.0401	0.14207	Zinc finger, LIM-type (4);	0.666027	0.14826	N	0.296160	T	0.73297	0.3569	N	0.12527	0.23	0.09310	N	1	B;B;B;B;B;B	0.20671	0.047;0.007;0.001;0.002;0.008;0.011	B;B;B;B;B;B	0.23419	0.046;0.004;0.003;0.005;0.005;0.006	T	0.60224	-0.7305	10	0.34782	T	0.22	.	8.7339	0.34516	0.6187:0.0:0.3813:0.0	rs61729668	383;1019;850;793;814;1040	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	T	850;383;1040;850;1019;814	ENSP00000441689:A850T;ENSP00000256194:A1040T;ENSP00000433965:A850T;ENSP00000344894:A1019T;ENSP00000368932:A814T	ENSP00000256194:A1040T	A	+	1	0	MICAL2	12235070	0.706000	0.27856	0.662000	0.29724	0.118000	0.20060	1.870000	0.39529	-0.033000	0.13736	0.655000	0.94253	GCC		0.632	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		18	29	0	0	0	1	0	18	29				
PLEKHH2	130271	broad.mit.edu	37	2	43980863	43980863	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43980863A>C	ENST00000282406.4	+	25	3869	c.3759A>C	c.(3757-3759)aaA>aaC	p.K1253N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1253	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTGAACAAAGATCTGGCAT	0.328																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3757-3759)aaA>aaC		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							70.0	76.0	74.0					2																	43980863		2203	4298	6501	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43980863A>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3759A>C	2.37:g.43980863A>C	ENSP00000282406:p.Lys1253Asn						p.K1253N	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			25	3869	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1253			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3759A>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708298	0.48412	.	.	ENSG00000152527	ENST00000282406	T	0.78246	-1.16	5.42	4.54	0.55810	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.042970	0.85682	D	0.000000	T	0.79759	0.4501	L	0.41573	1.285	0.58432	D	0.999999	P	0.43412	0.806	P	0.58928	0.848	T	0.76200	-0.3046	10	0.40728	T	0.16	-13.4946	8.8273	0.35063	0.2828:0.0:0.7172:0.0	.	1253	Q8IVE3	PKHH2_HUMAN	N	1253	ENSP00000282406:K1253N	ENSP00000282406:K1253N	K	+	3	2	PLEKHH2	43834367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.116000	0.31221	0.684000	0.31448	-0.119000	0.15052	AAA		0.328	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		13	75	0	0	0	1	0	13	75				
C1R	715	broad.mit.edu	37	12	7241913	7241913	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7241913T>C	ENST00000542285.1	-	5	890	c.741A>G	c.(739-741)gtA>gtG	p.V247V	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	248	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGGCAGTGTACTTGCTGGT	0.582																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(739-741)gtA>gtG		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						81.0	83.0	82.0					12																	7241913		2050	4175	6225	SO:0001819	synonymous_variant	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7241913T>C	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.741A>G	12.37:g.7241913T>C							p.V247V			P00736	C1R_HUMAN			5	890	-			248			CUB 2.		A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37	c.741A>G																																																																																					0.582	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		6	16	0	0	0	1	0	6	16				
TGDS	23483	broad.mit.edu	37	13	95230269	95230269	+	Missense_Mutation	SNP	A	A	G	rs575808762		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95230269A>G	ENST00000261296.5	-	9	935	c.815T>C	c.(814-816)cTa>cCa	p.L272P	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	272					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CAGTTGTATTAGTTCTTTGGC	0.348																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(814-816)cTa>cCa		TDP-glucose 4,6-dehydratase							75.0	73.0	73.0					13																	95230269		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95230269A>G	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.815T>C	13.37:g.95230269A>G	ENSP00000261296:p.Leu272Pro						p.L272P	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			9	935	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		272					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.815T>C	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130240	0.77549	.	.	ENSG00000088451	ENST00000261296	D	0.90504	-2.68	6.06	6.06	0.98353	.	0.071003	0.56097	D	0.000029	D	0.96106	0.8731	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96679	0.9502	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	272	O95455	TGDS_HUMAN	P	272	ENSP00000261296:L272P	ENSP00000261296:L272P	L	-	2	0	TGDS	94028270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.066000	0.76734	2.324000	0.78689	0.533000	0.62120	CTA		0.348	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		5	42	0	0	0	1	0	5	42				
RNF44	22838	broad.mit.edu	37	5	175956561	175956561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175956561G>A	ENST00000274811.4	-	9	1623	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	RNF44_ENST00000537487.1_Missense_Mutation_p.R286C|RNF44_ENST00000509404.1_5'Flank	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	367							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTTAAAGCGGTACGACGGG	0.657																																						ENST00000274811.4																			0				endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(1099-1101)Cgc>Tgc		ring finger protein 44							99.0	92.0	94.0					5																	175956561		2203	4300	6503	SO:0001583	missense	22838						zinc ion binding	g.chr5:175956561G>A	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1099C>T	5.37:g.175956561G>A	ENSP00000274811:p.Arg367Cys					RNF44_ENST00000537487.1_Missense_Mutation_p.R286C	p.R367C	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1623	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	367					B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	ENST00000274811.4	37	c.1099C>T	CCDS4404.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702488|3.702488	0.68501|0.68501	.|.	.|.	ENSG00000146083|ENSG00000146083	ENST00000506378|ENST00000274811;ENST00000537487	.|T;T	.|0.68181	.|-0.31;-0.31	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78591|0.78591	0.4307|0.4307	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.987;0.993	T|T	0.80327|0.80327	-0.1429|-0.1429	5|10	.|0.87932	.|D	.|0	-37.2611|-37.2611	18.2435|18.2435	0.89977|0.89977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|56;367	.|Q6ZS76;Q7L0R7	.|.;RNF44_HUMAN	L|C	121|367;286	.|ENSP00000274811:R367C;ENSP00000440352:R286C	.|ENSP00000274811:R367C	P|R	-|-	2|1	0|0	RNF44|RNF44	175889167|175889167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.429000|0.429000	0.31625|0.31625	2.737000|2.737000	0.47393|0.47393	2.642000|2.642000	0.89623|0.89623	0.549000|0.549000	0.68633|0.68633	CCG|CGC		0.657	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			14	42	0	0	0	1	0	14	42				
SYNE1	23345	broad.mit.edu	37	6	152647664	152647664	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152647664G>A	ENST00000367255.5	-	79	15661	c.15060C>T	c.(15058-15060)ggC>ggT	p.G5020G	SYNE1_ENST00000265368.4_Silent_p.G5020G|SYNE1_ENST00000341594.5_Silent_p.G4767G|SYNE1_ENST00000448038.1_Silent_p.G4949G|SYNE1_ENST00000423061.1_Silent_p.G4949G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5020					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGGCCATTGCCTGCCAGCT	0.458										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15058-15060)ggC>ggT		spectrin repeat containing, nuclear envelope 1							74.0	74.0	74.0					6																	152647664		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647664G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15060C>T	6.37:g.152647664G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.G4767G|SYNE1_ENST00000265368.4_Silent_p.G5020G|SYNE1_ENST00000448038.1_Silent_p.G4949G|SYNE1_ENST00000423061.1_Silent_p.G4949G	p.G5020G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15661	-		Ovarian(120;0.0955)	5020					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15060C>T	CCDS5236.2																																																																																				0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	29	0	0	0	1	0	4	29				
XPC	7508	broad.mit.edu	37	3	14208719	14208719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14208719G>A	ENST00000285021.7	-	5	785	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	XPC_ENST00000449060.2_Missense_Mutation_p.R154W	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	191					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCGCCCTCCGAAGATATGTC	0.468			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(571-573)Cgg>Tgg	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							133.0	122.0	125.0					3																	14208719		1890	4113	6003	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14208719G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.571C>T	3.37:g.14208719G>A	ENSP00000285021:p.Arg191Trp					XPC_ENST00000449060.2_Missense_Mutation_p.R154W	p.R191W	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			5	785	-			191					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.571C>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024669	0.54683	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.65916	-0.18;-0.18	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	M	0.82323	2.585	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84270	0.0488	10	0.87932	D	0	-24.588	18.3782	0.90442	0.0:0.0:1.0:0.0	.	154;191	E9PH69;Q01831	.;XPC_HUMAN	W	191;154	ENSP00000285021:R191W;ENSP00000404002:R154W	ENSP00000285021:R191W	R	-	1	2	XPC	14183723	1.000000	0.71417	0.961000	0.40146	0.230000	0.25150	6.106000	0.71511	2.647000	0.89833	0.563000	0.77884	CGG		0.468	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		10	10	0	0	0	1	0	10	10				
FYB	2533	broad.mit.edu	37	5	39126168	39126168	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39126168T>C	ENST00000351578.6	-	11	2098				FYB_ENST00000515010.1_Intron|FYB_ENST00000540520.1_Silent_p.K669K|FYB_ENST00000512982.1_Silent_p.K659K|FYB_ENST00000505428.1_Silent_p.K659K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTGTCATCTTTTCCCTTTA	0.408																																						ENST00000505428.1																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(1975-1977)aaA>aaG		FYN binding protein							153.0	139.0	143.0					5																	39126168		1873	4112	5985	SO:0001627	intron_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39126168T>C	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1907+1674A>G	5.37:g.39126168T>C						FYB_ENST00000515010.1_Intron|FYB_ENST00000351578.6_Intron|FYB_ENST00000540520.1_Silent_p.K669K|FYB_ENST00000512982.1_Silent_p.K659K	p.K659K	NM_001465.4	NP_001456.3	O15117	FYB_HUMAN	Epithelial(62;0.235)		12	2134	-	all_lung(31;0.000343)		636					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.1977A>G	CCDS47200.1																																																																																				0.408	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		4	45	0	0	0	1	0	4	45				
RAD54L2	23132	broad.mit.edu	37	3	51697257	51697257	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51697257C>A	ENST00000409535.2	+	22	4350	c.4225C>A	c.(4225-4227)Ctt>Att	p.L1409I	RAD54L2_ENST00000296477.3_Missense_Mutation_p.L1103I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1409						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCAGCAACCTTTCGCGGGG	0.577																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(4225-4227)Ctt>Att		RAD54-like 2 (S. cerevisiae)							138.0	116.0	123.0					3																	51697257		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51697257C>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4225C>A	3.37:g.51697257C>A	ENSP00000386520:p.Leu1409Ile					RAD54L2_ENST00000296477.3_Missense_Mutation_p.L1103I	p.L1409I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	22	4350	+			1409					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.4225C>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.962607|2.962607	0.53400|0.53400	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.94417|.	-3.36;-3.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.207467|.	0.33005|.	N|.	0.005381|.	T|T	0.43964|0.43964	0.1271|0.1271	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;P|.	0.39480|.	0.675;0.675|.	B;B|.	0.34824|.	0.19;0.134|.	T|T	0.30149|0.30149	-0.9988|-0.9988	10|5	0.87932|.	D|.	0|.	-13.1533|-13.1533	11.9239|11.9239	0.52808|0.52808	0.0:0.9209:0.0:0.079|0.0:0.9209:0.0:0.079	.|.	1409;998|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	I|H	1409;1103|1237	ENSP00000386520:L1409I;ENSP00000296477:L1103I|.	ENSP00000296477:L1103I|.	L|P	+|+	1|2	0|0	RAD54L2|RAD54L2	51672297|51672297	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.989000|0.989000	0.77384|0.77384	2.560000|2.560000	0.45896|0.45896	2.609000|2.609000	0.88269|0.88269	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.577	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		7	72	1	0	5.18039e-06	1	5.91835e-06	7	72				
SPTBN4	57731	broad.mit.edu	37	19	41008321	41008321	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41008321G>T	ENST00000352632.3	+	10	1196	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E370D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E370D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	370					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAACCTAGAGGTGCTGCTCT	0.617																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1108-1110)gaG>gaT		spectrin, beta, non-erythrocytic 4							62.0	62.0	62.0					19																	41008321		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008321G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1110G>T	19.37:g.41008321G>T	ENSP00000263373:p.Glu370Asp					SPTBN4_ENST00000595535.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E370D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E370D	p.E370D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		10	1196	+			370					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1110G>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938088	0.52972	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.50813	0.73;0.73;0.73	3.54	2.51	0.30379	.	0.097876	0.40385	U	0.001101	T	0.64136	0.2571	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.946;1.0	T	0.65212	-0.6223	10	0.66056	D	0.02	.	7.8122	0.29239	0.2116:0.0:0.7884:0.0	.	370;370	Q9H254;Q71S06	SPTN4_HUMAN;.	D	370	ENSP00000263373:E370D;ENSP00000340345:E370D;ENSP00000340741:E370D	ENSP00000340345:E370D	E	+	3	2	SPTBN4	45700161	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	3.308000	0.51896	1.080000	0.41073	-0.253000	0.11424	GAG		0.617	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			24	44	1	0	1.12875e-08	1	1.35699e-08	24	44				
NRXN3	9369	broad.mit.edu	37	14	79933703	79933703	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79933703C>T	ENST00000557594.1	+	2	1340	c.387C>T	c.(385-387)atC>atT	p.I129I	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Silent_p.I129I|NRXN3_ENST00000335750.5_Silent_p.I761I|NRXN3_ENST00000554719.1_Silent_p.I761I|NRXN3_ENST00000428277.2_Silent_p.I129I	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	129	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGTCCGCATCGACAGTGCTC	0.557																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(385-387)atC>atT		neurexin 3							118.0	104.0	109.0					14																	79933703		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933703C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.387C>T	14.37:g.79933703C>T						NRXN3_ENST00000335750.5_Silent_p.I761I|NRXN3_ENST00000428277.2_Silent_p.I129I|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Silent_p.I129I|NRXN3_ENST00000554719.1_Silent_p.I761I	p.I129I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	2	1266	+		Renal(4;0.00876)	129			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.387C>T																																																																																					0.557	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		31	34	0	0	0	1	0	31	34				
PML	5371	broad.mit.edu	37	15	74290723	74290723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74290723C>T	ENST00000268058.3	+	2	604	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	PML_ENST00000569477.1_Missense_Mutation_p.R170C|PML_ENST00000436891.3_Missense_Mutation_p.R170C|PML_ENST00000569965.1_Missense_Mutation_p.R170C|PML_ENST00000395135.3_Missense_Mutation_p.R170C|PML_ENST00000395132.2_Missense_Mutation_p.R170C|PML_ENST00000354026.6_Missense_Mutation_p.R170C|PML_ENST00000268059.6_Missense_Mutation_p.R170C|PML_ENST00000563500.1_Missense_Mutation_p.R170C|PML_ENST00000565898.1_Missense_Mutation_p.R170C|PML_ENST00000567543.1_Missense_Mutation_p.R170C|PML_ENST00000359928.4_Missense_Mutation_p.R170C|PML_ENST00000564428.1_Missense_Mutation_p.R170C|PML_ENST00000435786.2_Missense_Mutation_p.R170C	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	170					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAGAGCTGCGCAACCAGTC	0.622			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(508-510)Cgc>Tgc		promyelocytic leukemia							52.0	49.0	50.0					15																	74290723		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74290723C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.508C>T	15.37:g.74290723C>T	ENSP00000268058:p.Arg170Cys					PML_ENST00000435786.2_Missense_Mutation_p.R170C|PML_ENST00000436891.3_Missense_Mutation_p.R170C|PML_ENST00000563500.1_Missense_Mutation_p.R170C|PML_ENST00000354026.6_Missense_Mutation_p.R170C|PML_ENST00000569965.1_Missense_Mutation_p.R170C|PML_ENST00000564428.1_Missense_Mutation_p.R170C|PML_ENST00000395135.3_Missense_Mutation_p.R170C|PML_ENST00000395132.2_Missense_Mutation_p.R170C|PML_ENST00000359928.4_Missense_Mutation_p.R170C|PML_ENST00000268058.3_Missense_Mutation_p.R170C|PML_ENST00000569477.1_Missense_Mutation_p.R170C|PML_ENST00000567543.1_Missense_Mutation_p.R170C|PML_ENST00000268059.6_Missense_Mutation_p.R170C	p.R170C			P29590	PML_HUMAN			2	592	+			170					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.508C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671164	0.67814	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.61	2.45	0.29901	.	0.000000	0.53938	D	0.000043	T	0.59211	0.2177	L	0.36672	1.1	0.46564	D	0.999109	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.982;0.999;0.999;0.995;0.996;0.995;0.996;0.999;1.0;0.998;1.0;0.982	T	0.62440	-0.6854	10	0.87932	D	0	-35.7835	10.5309	0.44975	0.3043:0.6957:0.0:0.0	.	120;170;170;170;170;170;170;170;170;170;170;173	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	C	170	ENSP00000378567:R170C;ENSP00000395576:R170C;ENSP00000353004:R170C;ENSP00000394642:R170C;ENSP00000268058:R170C;ENSP00000378564:R170C;ENSP00000268059:R170C;ENSP00000315434:R170C	ENSP00000268058:R170C	R	+	1	0	PML	72077776	0.026000	0.19158	0.990000	0.47175	0.919000	0.55068	-0.040000	0.12104	2.125000	0.65367	0.561000	0.74099	CGC		0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		12	14	0	0	0	1	0	12	14				
TRHR	7201	broad.mit.edu	37	8	110131387	110131387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110131387G>A	ENST00000518632.1	+	3	1251	c.900G>A	c.(898-900)tgG>tgA	p.W300*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W300*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AAGAAAATTGGTTTTTGCTCT	0.433																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(898-900)tgG>tgA		thyrotropin-releasing hormone receptor							227.0	226.0	226.0					8																	110131387		2203	4300	6503	SO:0001587	stop_gained	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131387G>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.900G>A	8.37:g.110131387G>A	ENSP00000430711:p.Trp300*					TRHR_ENST00000311762.2_Nonsense_Mutation_p.W300*	p.W300*			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		3	1251	+			300					Q2M339	Nonsense_Mutation	SNP	ENST00000518632.1	37	c.900G>A	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360098	0.95877	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	.	.	.	6.07	6.07	0.98685	.	0.049268	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-12.3266	19.6407	0.95757	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	ENSP00000309818:W300X	W	+	3	0	TRHR	110200563	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.819000	0.86621	2.890000	0.99128	0.585000	0.79938	TGG		0.433	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			98	162	0	0	0	1	0	98	162				
C6orf203	51250	broad.mit.edu	37	6	107372330	107372330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107372330C>T	ENST00000405204.2	+	4	1220	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	C6orf203_ENST00000443043.1_Missense_Mutation_p.R210W|C6orf203_ENST00000311381.5_Missense_Mutation_p.R205W	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	205						mitochondrion (GO:0005739)				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383																																						ENST00000443043.1																			0				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(628-630)Cgg>Tgg		chromosome 6 open reading frame 203							105.0	111.0	109.0					6																	107372330		2203	4300	6503	SO:0001583	missense	51250							g.chr6:107372330C>T	AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.613C>T	6.37:g.107372330C>T	ENSP00000384867:p.Arg205Trp					C6orf203_ENST00000405204.2_Missense_Mutation_p.R205W|C6orf203_ENST00000311381.5_Missense_Mutation_p.R205W	p.R210W	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)	5	1303	+	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	205					B3KRG9	Missense_Mutation	SNP	ENST00000405204.2	37	c.628C>T	CCDS5058.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793326	0.70452	.	.	ENSG00000130349	ENST00000443043;ENST00000405204;ENST00000311381	T;T;T	0.33216	1.42;1.42;1.42	5.93	1.67	0.24075	.	0.000000	0.64402	D	0.000001	T	0.44030	0.1274	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.72625	0.978	T	0.56697	-0.7936	10	0.87932	D	0	-9.6707	17.0298	0.86458	0.6997:0.3002:0.0:0.0	.	205	Q9P0P8	CF203_HUMAN	W	210;205;205	ENSP00000390153:R210W;ENSP00000384867:R205W;ENSP00000310951:R205W	ENSP00000310951:R205W	R	+	1	2	C6orf203	107479023	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.522000	0.22909	0.284000	0.22305	0.655000	0.94253	CGG		0.383	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487		42	53	0	0	0	1	0	42	53				
FBXW10	10517	broad.mit.edu	37	17	18681866	18681866	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18681866C>A	ENST00000395665.4	+	14	2635	c.2414C>A	c.(2413-2415)tCt>tAt	p.S805Y	FBXW10_ENST00000395667.1_Missense_Mutation_p.S804Y|FBXW10_ENST00000308799.4_Missense_Mutation_p.S814Y|TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.S752Y|TVP23B_ENST00000574226.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	805										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAGAAAAAGTCTTGGAAAATC	0.448																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2440-2442)tCt>tAt		F-box and WD repeat domain containing 10							30.0	28.0	29.0					17																	18681866		2201	4295	6496	SO:0001583	missense	10517							g.chr17:18681866C>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2414C>A	17.37:g.18681866C>A	ENSP00000379025:p.Ser805Tyr					FBXW10_ENST00000395665.4_Missense_Mutation_p.S805Y|FBXW10_ENST00000395667.1_Missense_Mutation_p.S804Y|FBXW10_ENST00000301938.4_Missense_Mutation_p.S752Y	p.S814Y			Q5XX13	FBW10_HUMAN			12	2660	+			805					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.2441C>A	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	2.563	-0.301461	0.05495	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.60672	0.18;0.32;0.17;0.29	3.89	-1.98	0.07480	.	4.175570	0.02051	U	0.050033	T	0.47154	0.1430	L	0.44542	1.39	0.09310	N	1	P;P;B;P	0.40398	0.495;0.716;0.139;0.716	B;B;B;B	0.37144	0.177;0.242;0.054;0.242	T	0.45469	-0.9259	10	0.48119	T	0.1	.	5.7294	0.18030	0.0:0.2549:0.5116:0.2335	.	752;814;805;804	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	Y	804;814;752;805	ENSP00000379026:S804Y;ENSP00000310382:S814Y;ENSP00000306937:S752Y;ENSP00000379025:S805Y	ENSP00000306937:S752Y	S	+	2	0	FBXW10	18622591	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.780000	0.04654	-0.023000	0.13963	0.411000	0.27672	TCT		0.448	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		12	15	1	0	0.00244969	1	0.00259885	12	15				
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78046696G>A	ENST00000370801.3	-	9	2442	c.1967C>T	c.(1966-1968)aCt>aTt	p.T656I	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1966-1968)aCt>aTt		zinc finger, ZZ-type containing 3							171.0	165.0	167.0					1																	78046696		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78046696G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1967C>T	1.37:g.78046696G>A	ENSP00000359837:p.Thr656Ile					ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162I|ZZZ3_ENST00000476275.1_5'UTR	p.T656I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			9	2442	-			656			HTH myb-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1967C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270242	0.80469	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.63096	-0.02;-0.02	5.77	5.77	0.91146	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.106561	0.64402	D	0.000006	D	0.83326	0.5230	H	0.96518	3.835	0.80722	D	1	P;D;P	0.76494	0.739;0.999;0.934	B;D;P	0.71656	0.286;0.974;0.541	D	0.87490	0.2426	10	0.87932	D	0	.	15.4799	0.75517	0.0:0.1381:0.8619:0.0	.	162;656;655	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	I	656;162	ENSP00000359837:T656I;ENSP00000359834:T162I	ENSP00000359834:T162I	T	-	2	0	ZZZ3	77819284	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.208000	0.65203	2.902000	0.99343	0.650000	0.86243	ACT		0.373	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		45	130	0	0	0	1	0	45	130				
TTN	7273	broad.mit.edu	37	2	179495647	179495647	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179495647G>A	ENST00000591111.1	-	188	39339	c.39115C>T	c.(39115-39117)Ccc>Tcc	p.P13039S	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P5615S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5740S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P12112S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P14680S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P5807S			Q8WZ42	TITIN_HUMAN	titin	13039					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCAGGGGTCGCACCAGT	0.493																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44038-44040)Ccc>Tcc		titin							89.0	87.0	88.0					2																	179495647		1945	4141	6086	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495647G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39115C>T	2.37:g.179495647G>A	ENSP00000465570:p.Pro13039Ser					TTN_ENST00000460472.2_Missense_Mutation_p.P5615S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P12112S|TTN_ENST00000359218.5_Missense_Mutation_p.P5740S|TTN_ENST00000342175.6_Missense_Mutation_p.P5807S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13039S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.P14680S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		238	44262	-			13039			Ig-like 96.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44038C>T		.	.	.	.	.	.	.	.	.	.	G	17.74	3.464096	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	6.17	6.17	0.99709	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49012	0.1532	M	0.82823	2.61	0.80722	D	1	P;P;P;P	0.52577	0.954;0.954;0.954;0.954	B;B;B;B	0.41412	0.356;0.356;0.356;0.356	T	0.59064	-0.7524	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5615;5740;5807;13039	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	12112;5615;5807;5740;5615	ENSP00000343764:P12112S;ENSP00000434586:P5615S;ENSP00000340554:P5807S;ENSP00000352154:P5740S	ENSP00000340554:P5807S	P	-	1	0	TTN	179203892	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	CCC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	37	0	0	0	1	0	25	37				
WRAP73	49856	broad.mit.edu	37	1	3555383	3555383	+	Missense_Mutation	SNP	G	G	A	rs149705127		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3555383G>A	ENST00000270708.7	-	4	416	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	WRAP73_ENST00000378322.3_Missense_Mutation_p.R115W	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	115						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACGGTTATCCGCAGCTGTTGG	0.527																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(343-345)Cgg>Tgg		WD repeat containing, antisense to TP73		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	120.0	120.0		343	5.2	1.0	1	dbSNP_134	120	0,8598		0,0,4299	no	missense	WRAP73	NM_017818.3	101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	115/461	3555383	1,13003	2203	4299	6502	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3555383G>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.343C>T	1.37:g.3555383G>A	ENSP00000270708:p.Arg115Trp					WRAP73_ENST00000270708.7_Missense_Mutation_p.R115W	p.R115W			Q9P2S5	WRP73_HUMAN			4	401	-			115					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.343C>T	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258938	0.80246	2.27E-4	0.0	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.50277	0.75;0.75;0.75	5.18	5.18	0.71444	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78585	-0.2147	10	0.62326	D	0.03	-61.434	17.6919	0.88270	0.0:0.0:1.0:0.0	.	115;115;115	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	W	115	ENSP00000270708:R115W;ENSP00000367573:R115W;ENSP00000416192:R115W	ENSP00000270708:R115W	R	-	1	2	WRAP73	3545243	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.661000	0.68025	2.411000	0.81874	0.650000	0.86243	CGG		0.527	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			26	26	0	0	0	1	0	26	26				
ZNF271	10778	broad.mit.edu	37	18	32887471	32887471	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32887471C>A	ENST00000399070.3	+	0	1865					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						AGCTCTTACCCTACACCAGAG	0.438																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12															88.0	80.0	83.0					18																	32887471		2203	4300	6503			0							g.chr18:32887471C>A	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887471C>A								NR_024565.1|NR_024566.1						0	1865	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																						0.438	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		9	33	1	0	1.33987e-11	1	1.67317e-11	9	33				
PDPR	55066	broad.mit.edu	37	16	70180086	70180086	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70180086C>A	ENST00000288050.4	+	16	2874	c.1917C>A	c.(1915-1917)tcC>tcA	p.S639S	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000398122.3_Silent_p.S539S|PDPR_ENST00000568530.1_Silent_p.S639S|PDPR_ENST00000567046.1_5'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	639					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGTTGTCCTATGCCCCTA	0.468																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(1915-1917)tcC>tcA		pyruvate dehydrogenase phosphatase regulatory subunit							112.0	114.0	113.0					16																	70180086		1872	4114	5986	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70180086C>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1917C>A	16.37:g.70180086C>A						PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000398122.3_Silent_p.S539S|PDPR_ENST00000567046.1_5'UTR|PDPR_ENST00000568530.1_Silent_p.S639S|PDPR_ENST00000562100.1_3'UTR	p.S639S	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	16	2874	+			639					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.1917C>A	CCDS45520.1																																																																																				0.468	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		23	117	1	0	6.04164e-23	1	7.98701e-23	23	117				
TFR2	7036	broad.mit.edu	37	7	100228540	100228540	+	Silent	SNP	G	G	A	rs150883560	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100228540G>A	ENST00000462107.1	-	10	1529	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Missense_Mutation_p.R329W|TFR2_ENST00000223051.3_Silent_p.F414F			Q9UP52	TFR2_HUMAN	transferrin receptor 2	414					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CGATGCAGCCGAAGATGTTGT	0.602																																						ENST00000431692.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(985-987)Cgg>Tgg		transferrin receptor 2		G	,	3,4403	4.2+/-10.8	0,3,2200	107.0	86.0	93.0		729,1242	-1.9	1.0	7	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TFR2	NM_001206855.1,NM_003227.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	243/631,414/802	100228540	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100228540G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1242C>T	7.37:g.100228540G>A						TFR2_ENST00000223051.3_Silent_p.F414F|TFR2_ENST00000462107.1_Silent_p.F414F|TFR2_ENST00000544242.1_5'UTR	p.R329W			Q9UP52	TFR2_HUMAN			7	1025	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		0					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.985C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944430	0.53079	6.81E-4	0.0	ENSG00000106327	ENST00000431692	T	0.59772	0.24	4.74	-1.85	0.07784	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.25865	N	0.983776	.	.	.	.	.	.	T	0.56595	-0.7953	6	0.87932	D	0	-12.035	9.0332	0.36271	0.5168:0.0:0.4832:0.0	.	.	.	.	W	329	ENSP00000413905:R329W	ENSP00000413905:R329W	R	-	1	2	TFR2	100066476	0.997000	0.39634	0.996000	0.52242	0.889000	0.51656	0.287000	0.18920	-0.182000	0.10602	-0.340000	0.08031	CGG		0.602	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		4	59	0	0	0	1	0	4	59				
CCER1	196477	broad.mit.edu	37	12	91347989	91347989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347989C>A	ENST00000358859.2	-	1	964	c.531G>T	c.(529-531)gaG>gaT	p.E177D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	177																	GCTCTCTCCACTCATACAGCT	0.667																																						ENST00000358859.2																			0											c.(529-531)gaG>gaT		coiled-coil glutamate-rich protein 1							52.0	53.0	53.0					12																	91347989		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347989C>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.531G>T	12.37:g.91347989C>A	ENSP00000351727:p.Glu177Asp					CCER1_ENST00000548187.1_Intron	p.E177D	NM_152638.2	NP_689851.1					1	964	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.531G>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	3.161	-0.172173	0.06421	.	.	ENSG00000197651	ENST00000358859	T	0.30981	1.51	4.52	-1.14	0.09741	.	0.228496	0.22576	N	0.058276	T	0.13030	0.0316	N	0.14661	0.345	0.09310	N	1	B	0.24618	0.107	B	0.25291	0.059	T	0.31696	-0.9934	10	0.12766	T	0.61	-17.5781	6.9358	0.24466	0.0:0.2212:0.5397:0.239	.	177	Q8TC90	CL012_HUMAN	D	177	ENSP00000351727:E177D	ENSP00000351727:E177D	E	-	3	2	C12orf12	89872120	0.065000	0.20965	0.746000	0.31095	0.042000	0.13812	-0.737000	0.04877	0.109000	0.17891	0.462000	0.41574	GAG		0.667	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		25	26	1	0	2.41591e-17	1	3.13163e-17	25	26				
GSPT1	2935	broad.mit.edu	37	16	11981501	11981501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11981501G>T	ENST00000563468.1	-	5	495	c.469C>A	c.(469-471)Cta>Ata	p.L157I	GSPT1_ENST00000439887.2_Missense_Mutation_p.L294I|GSPT1_ENST00000434724.2_Missense_Mutation_p.L295I|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Missense_Mutation_p.L157I|GSPT1_ENST00000564790.1_5'Flank			P15170	ERF3A_HUMAN	G1 to S phase transition 1	157	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCATCTAGAATTGTGAAA	0.448																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(883-885)Cta>Ata		G1 to S phase transition 1							156.0	161.0	159.0					16																	11981501		2196	4300	6496	SO:0001583	missense	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11981501G>T	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.469C>A	16.37:g.11981501G>T	ENSP00000454351:p.Leu157Ile					RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000563468.1_Missense_Mutation_p.L157I|GSPT1_ENST00000420576.2_Missense_Mutation_p.L157I|GSPT1_ENST00000439887.2_Missense_Mutation_p.L294I	p.L295I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			7	1082	-			157					J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	c.883C>A	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245186	0.59103	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.61040	0.14;0.14;0.14	5.39	3.44	0.39384	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000003	T	0.50446	0.1616	N	0.20328	0.56	0.58432	D	0.999998	D;D;P	0.55605	0.972;0.972;0.857	P;P;P	0.60415	0.874;0.874;0.699	T	0.49670	-0.8915	10	0.02654	T	1	-9.572	10.6684	0.45745	0.1565:0.0:0.8435:0.0	.	294;291;157	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	I	295;294;157	ENSP00000398131:L295I;ENSP00000408399:L294I;ENSP00000399539:L157I	ENSP00000399539:L157I	L	-	1	2	GSPT1	11889002	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.874000	0.39568	0.652000	0.30806	-0.258000	0.10820	CTA		0.448	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		12	124	1	0	0.000151284	1	0.000166931	12	124				
DENND4A	10260	broad.mit.edu	37	15	66031164	66031164	+	Silent	SNP	C	C	T	rs371666005		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66031164C>T	ENST00000431932.2	-	6	889	c.681G>A	c.(679-681)ccG>ccA	p.P227P	DENND4A_ENST00000443035.3_Silent_p.P227P	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	227	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAACAGATTCCGGTAGTGAGA	0.338													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18547	0.0		0.0	False		,,,				2504	0.0					ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(679-681)ccG>ccA		DENN/MADD domain containing 4A		C	,	0,3654		0,0,1827	82.0	81.0	81.0		681,681	0.5	1.0	15		81	3,8157		0,3,4077	no	coding-synonymous,coding-synonymous	DENND4A	NM_001144823.1,NM_005848.3	,	0,3,5904	TT,TC,CC		0.0368,0.0,0.0254	,	227/1907,227/1864	66031164	3,11811	1827	4080	5907	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66031164C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.681G>A	15.37:g.66031164C>T						DENND4A_ENST00000431932.2_Silent_p.P227P	p.P227P	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			6	896	-			227			UDENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.681G>A	CCDS45285.1																																																																																				0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		16	32	0	0	0	1	0	16	32				
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A	rs377025983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1960-1962)tCg>tTg		axin 1		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	93.0	91.0		1961,1961	4.2	0.5	16		91	0,8600		0,0,4300	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	654/863,654/827	343713	1,13005	2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:343713G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1961C>T	16.37:g.343713G>A	ENSP00000262320:p.Ser654Leu					AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			8	2332	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	654			Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1961C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373947	0.61735	2.27E-4	0.0	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61742	0.08;0.08	4.17	4.17	0.49024	.	0.309451	0.34853	N	0.003624	T	0.65471	0.2694	M	0.63843	1.955	0.47153	D	0.99933	D;D	0.64830	0.994;0.99	P;P	0.52909	0.713;0.52	T	0.69068	-0.5243	10	0.48119	T	0.1	-21.2179	15.6374	0.76966	0.0:0.0:1.0:0.0	.	654;654	O15169-2;O15169	.;AXIN1_HUMAN	L	654	ENSP00000262320:S654L;ENSP00000346935:S654L	ENSP00000262320:S654L	S	-	2	0	AXIN1	283714	1.000000	0.71417	0.509000	0.27700	0.094000	0.18550	4.945000	0.63568	2.185000	0.69588	0.478000	0.44815	TCG		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			48	53	0	0	0	1	0	48	53				
LRP4	4038	broad.mit.edu	37	11	46921489	46921489	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921489T>G	ENST00000378623.1	-	4	597	c.355A>C	c.(355-357)Aat>Cat	p.N119H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	119	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTAGCCATTCTGGCAGGGA	0.632																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(355-357)Aat>Cat		low density lipoprotein receptor-related protein 4							82.0	75.0	78.0					11																	46921489		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921489T>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.355A>C	11.37:g.46921489T>G	ENSP00000367888:p.Asn119His						p.N119H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	4	597	-			119			LDL-receptor class A 3.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.355A>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305763	0.81247	.	.	ENSG00000134569	ENST00000378623;ENST00000534404	T;D	0.92348	-1.21;-3.02	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96288	0.8789	M	0.84948	2.725	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.91635	0.959;0.999	D	0.96886	0.9649	10	0.72032	D	0.01	.	15.598	0.76602	0.0:0.0:0.0:1.0	.	164;119	C9JRN7;O75096	.;LRP4_HUMAN	H	119;70	ENSP00000367888:N119H;ENSP00000434763:N70H	ENSP00000367888:N119H	N	-	1	0	LRP4	46878065	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.089000	0.71384	2.154000	0.67381	0.418000	0.28097	AAT		0.632	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		6	39	0	0	0	1	0	6	39				
NUDT19	390916	broad.mit.edu	37	19	33200138	33200138	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33200138T>C	ENST00000397061.3	+	2	762	c.762T>C	c.(760-762)atT>atC	p.I254I		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	254	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAAAGAAATTTGGTTGCCAC	0.428																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(760-762)atT>atC		nudix (nucleoside diphosphate linked moiety X)-type motif 19							198.0	191.0	193.0					19																	33200138		1858	4085	5943	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200138T>C		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.762T>C	19.37:g.33200138T>C							p.I254I	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	762	+	Esophageal squamous(110;0.137)		254			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.762T>C	CCDS42543.1																																																																																				0.428	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		28	278	0	0	0	1	0	28	278				
MPP3	4356	broad.mit.edu	37	17	41903202	41903202	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41903202G>A	ENST00000398389.4	-	9	696	c.531C>T	c.(529-531)gtC>gtT	p.V177V	MPP3_ENST00000398393.1_Silent_p.V202V	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	177	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCCAACGTGGACCAGGCCTA	0.617																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(604-606)gtC>gtT		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							66.0	71.0	69.0					17																	41903202		2111	4218	6329	SO:0001819	synonymous_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41903202G>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.531C>T	17.37:g.41903202G>A						MPP3_ENST00000398389.4_Silent_p.V177V	p.V202V			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	7	866	-		Breast(137;0.00394)	177			PDZ.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	c.606C>T	CCDS42344.1																																																																																				0.617	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		4	31	0	0	0	1	0	4	31				
DST	667	broad.mit.edu	37	6	56506847	56506847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56506847G>A	ENST00000361203.3	-	13	1299	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V	DST_ENST00000244364.6_Missense_Mutation_p.A105V|DST_ENST00000518935.1_Missense_Mutation_p.A105V|DST_ENST00000370769.4_Missense_Mutation_p.A431V|DST_ENST00000446842.2_Missense_Mutation_p.A105V|DST_ENST00000421834.2_Missense_Mutation_p.A431V|DST_ENST00000370788.2_Missense_Mutation_p.A431V|DST_ENST00000370765.6_Missense_Mutation_p.A105V|DST_ENST00000370754.5_Missense_Mutation_p.A609V|DST_ENST00000312431.6_Missense_Mutation_p.A431V			Q03001	DYST_HUMAN	dystonin	431					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATATACCCAGCAATTTCTGC	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1825-1827)gCt>gTt		dystonin							105.0	99.0	101.0					6																	56506847		2203	4299	6502	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56506847G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1292C>T	6.37:g.56506847G>A	ENSP00000354508:p.Ala431Val					DST_ENST00000518935.1_Missense_Mutation_p.A105V|DST_ENST00000312431.6_Missense_Mutation_p.A431V|DST_ENST00000370769.4_Missense_Mutation_p.A431V|DST_ENST00000421834.2_Missense_Mutation_p.A431V|DST_ENST00000370788.2_Missense_Mutation_p.A431V|DST_ENST00000244364.6_Missense_Mutation_p.A105V|DST_ENST00000361203.3_Missense_Mutation_p.A431V|DST_ENST00000446842.2_Missense_Mutation_p.A105V|DST_ENST00000370765.6_Missense_Mutation_p.A105V	p.A609V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		16	1825	-	Lung NSC(77;0.103)		431					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.1826C>T		.	.	.	.	.	.	.	.	.	.	G	26.9	4.784304	0.90282	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	5.3	5.3	0.74995	.	0.000000	0.47455	D	0.000229	D	0.91392	0.7284	N	0.17723	0.515	0.32874	D	0.509660	P;P;D;P;D;P;P;D;P;B	0.89917	0.78;0.793;0.997;0.793;0.986;0.848;0.537;1.0;0.793;0.0	B;B;D;B;P;B;B;D;B;B	0.77557	0.265;0.283;0.985;0.283;0.73;0.338;0.413;0.99;0.283;0.002	D	0.90702	0.4621	9	0.35671	T	0.21	.	19.1447	0.93459	0.0:0.0:1.0:0.0	.	460;431;431;609;547;105;105;105;431;105	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	105;609;431;431;105;431;431;431;105;471;105;105;609	ENSP00000244364:A105V;ENSP00000359790:A609V;ENSP00000359805:A431V;ENSP00000400883:A431V;ENSP00000393645:A105V;ENSP00000307959:A431V;ENSP00000359824:A431V;ENSP00000354508:A431V;ENSP00000404924:A105V;ENSP00000431030:A471V;ENSP00000359801:A105V;ENSP00000431003:A105V;ENSP00000393082:A609V	ENSP00000244364:A105V	A	-	2	0	DST	56614806	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.263000	0.95617	2.753000	0.94483	0.585000	0.79938	GCT		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		19	33	0	0	0	1	0	19	33				
MALAT1	378938	broad.mit.edu	37	11	65267740	65267740	+	lincRNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65267740G>A	ENST00000534336.1	+	0	2508				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTGAAAAATGTGAAGGACTT	0.308																																						ENST00000534336.1																			0																				33.0	36.0	35.0					11																	65267740		874	1987	2861			0							g.chr11:65267740G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65267740G>A								NR_002819.2						0	2508	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.308	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		15	15	0	0	0	1	0	15	15				
WDR12	55759	broad.mit.edu	37	2	203760929	203760929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203760929G>A	ENST00000261015.4	-	6	1217	c.468C>T	c.(466-468)tgC>tgT	p.C156C		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCAATAATAAGCAGGACAAAC	0.363																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(466-468)tgC>tgT		WD repeat domain 12							72.0	64.0	67.0					2																	203760929		2203	4300	6503	SO:0001819	synonymous_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203760929G>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.468C>T	2.37:g.203760929G>A							p.C156C	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			6	1217	-			156			Sufficient for nucleolar localization.			Silent	SNP	ENST00000261015.4	37	c.468C>T	CCDS2356.1																																																																																				0.363	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		10	28	0	0	0	1	0	10	28				
C14orf177	283598	broad.mit.edu	37	14	99182651	99182651	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99182651C>T	ENST00000325812.2	+	3	542	c.123C>T	c.(121-123)tgC>tgT	p.C41C		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGGGAAATGCCCAAGTTCTC	0.542																																						ENST00000325812.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(121-123)tgC>tgT		chromosome 14 open reading frame 177							136.0	98.0	111.0					14																	99182651		2203	4300	6503	SO:0001819	synonymous_variant	283598							g.chr14:99182651C>T	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.123C>T	14.37:g.99182651C>T							p.C41C	NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN			3	542	+		Melanoma(154;0.128)	41					Q8N7D2	Silent	SNP	ENST00000325812.2	37	c.123C>T	CCDS9948.1																																																																																				0.542	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		9	27	0	0	0	1	0	9	27				
NENF	29937	broad.mit.edu	37	1	212619202	212619202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212619202C>A	ENST00000366988.3	+	4	430	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	125	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ACTGGAGGCCCTGGATGAGGT	0.532																																						ENST00000366988.3																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(373-375)Ctg>Atg		neudesin neurotrophic factor							114.0	114.0	114.0					1																	212619202		2203	4300	6503	SO:0001583	missense	29937					extracellular space	heme binding	g.chr1:212619202C>A		CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"""neudesin"""	611874	"""neuron derived neurotrophic factor"""			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.373C>A	1.37:g.212619202C>A	ENSP00000355955:p.Leu125Met					NENF_ENST00000473900.1_3'UTR	p.L125M	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN		all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)	4	430	+			125			Cytochrome b5 heme-binding.		A1KYQ8|Q53FZ6|Q5TM90	Missense_Mutation	SNP	ENST00000366988.3	37	c.373C>A	CCDS1505.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222431	0.79464	.	.	ENSG00000117691	ENST00000366988	T	0.81247	-1.47	4.92	4.92	0.64577	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90434	0.4426	10	0.62326	D	0.03	-6.2477	11.949	0.52944	0.0:0.92:0.0:0.08	.	125	Q9UMX5	NENF_HUMAN	M	125	ENSP00000355955:L125M	ENSP00000355955:L125M	L	+	1	2	NENF	210685825	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	4.679000	0.61649	2.443000	0.82685	0.585000	0.79938	CTG		0.532	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089291.1	NM_013349		18	105	1	0	3.32936e-07	1	3.90007e-07	18	105				
NF1	4763	broad.mit.edu	37	17	29554597	29554597	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29554597T>C	ENST00000358273.4	+	20	2765	c.2382T>C	c.(2380-2382)taT>taC	p.Y794Y	NF1_ENST00000356175.3_Silent_p.Y794Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	794					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Y794*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTAACTATCCAAAAGCCA	0.358			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	p.0?(8)|p.?(4)|p.Y794*(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2380-2382)taT>taC		neurofibromin 1							95.0	82.0	86.0					17																	29554597		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29554597T>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2382T>C	17.37:g.29554597T>C		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.Y794Y	p.Y794Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	2765	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	794					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.2382T>C	CCDS42292.1																																																																																				0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	61	0	0	0	1	0	5	61				
CDC25A	993	broad.mit.edu	37	3	48215880	48215880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48215880C>T	ENST00000302506.3	-	9	1232	c.824G>A	c.(823-825)aGa>aAa	p.R275K	CDC25A_ENST00000351231.3_Missense_Mutation_p.R235K|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	275					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCGTTCTGGTCTCTTCAACAC	0.507																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(823-825)aGa>aAa		cell division cycle 25A							107.0	106.0	107.0					3																	48215880		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48215880C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.824G>A	3.37:g.48215880C>T	ENSP00000303706:p.Arg275Lys					CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.R235K	p.R275K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	9	1232	-			275					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.824G>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190782	0.78789	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.31769	1.48;1.48	5.69	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.71581	2.175	0.53005	D	0.999962	D;D	0.76494	0.999;0.999	D;D	0.70487	0.948;0.969	T	0.58544	-0.7618	10	0.72032	D	0.01	.	14.3276	0.66530	0.0:0.8505:0.1495:0.0	.	235;275	P30304-2;P30304	.;MPIP1_HUMAN	K	275;235	ENSP00000303706:R275K;ENSP00000343166:R235K	ENSP00000303706:R275K	R	-	2	0	CDC25A	48190884	1.000000	0.71417	0.990000	0.47175	0.497000	0.33675	5.153000	0.64888	1.353000	0.45828	0.591000	0.81541	AGA		0.507	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		5	54	0	0	0	1	0	5	54				
ICAM2	3384	broad.mit.edu	37	17	62082676	62082676	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62082676G>A	ENST00000412356.1	-	4	473	c.119C>T	c.(118-120)cCc>cTc	p.P40L	ICAM2_ENST00000579687.1_Missense_Mutation_p.P40L|ICAM2_ENST00000579788.1_Missense_Mutation_p.P40L|ICAM2_ENST00000449662.2_Missense_Mutation_p.P40L|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000418105.1_Missense_Mutation_p.P40L|ICAM2_ENST00000578892.1_Intron|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	40					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGACCCTTTGGGCTCAACCGC	0.557																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(118-120)cCc>cTc		intercellular adhesion molecule 2							83.0	66.0	71.0					17																	62082676		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62082676G>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.119C>T	17.37:g.62082676G>A	ENSP00000415283:p.Pro40Leu					ICAM2_ENST00000578892.1_Intron|ICAM2_ENST00000449662.2_Missense_Mutation_p.P40L|ICAM2_ENST00000418105.1_Missense_Mutation_p.P40L|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.P40L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P40L	p.P40L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			4	473	-			40					Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.119C>T	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737529	0.15574	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.13657	2.57;2.57;2.57	5.11	0.704	0.18121	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.782162	0.12136	N	0.496320	T	0.12305	0.0299	L	0.45228	1.405	0.09310	N	1	D;D	0.60160	0.987;0.974	P;B	0.49387	0.609;0.323	T	0.16100	-1.0414	10	0.11485	T	0.65	-5.5882	3.849	0.08946	0.3144:0.1801:0.5055:0.0	.	40;40	B7Z316;P13598	.;ICAM2_HUMAN	L	40	ENSP00000415283:P40L;ENSP00000388666:P40L;ENSP00000392634:P40L	ENSP00000415283:P40L	P	-	2	0	ICAM2	59436408	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.358000	0.20216	0.133000	0.18654	0.462000	0.41574	CCC		0.557	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			16	19	0	0	0	1	0	16	19				
ZNF586	54807	broad.mit.edu	37	19	58301644	58301644	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58301644C>T	ENST00000598183.1	+	2	215	c.39C>T	c.(37-39)agC>agT	p.S13S	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Silent_p.S13S			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAACAGAGCAGTGTGACCT	0.488																																						ENST00000598183.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(37-39)agC>agT		zinc finger protein 586							236.0	213.0	220.0					19																	58301644		876	1991	2867	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58301644C>T	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000598183.1:c.39C>T	19.37:g.58301644C>T						ZNF586_ENST00000598885.1_Silent_p.S13S|ZNF586_ENST00000599802.1_Intron	p.S13S			Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	215	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	13					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	ENST00000598183.1	37	c.39C>T																																																																																					0.488	ZNF586-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000466824.1	NM_017652		9	131	0	0	0	1	0	9	131				
PLEKHG4B	153478	broad.mit.edu	37	5	163454	163454	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:163454T>C	ENST00000283426.6	+	11	2249	c.2199T>C	c.(2197-2199)ccT>ccC	p.P733P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	733							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGAGATACCTCAGCCCGACA	0.567																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2197-2199)ccT>ccC		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							85.0	102.0	96.0					5																	163454		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163454T>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2199T>C	5.37:g.163454T>C							p.P733P	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2249	+			733						Silent	SNP	ENST00000283426.6	37	c.2199T>C	CCDS34124.1																																																																																				0.567	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		12	108	0	0	0	1	0	12	108				
THOP1	7064	broad.mit.edu	37	19	2794857	2794857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794857G>A	ENST00000307741.6	+	3	528	c.325G>A	c.(325-327)Gac>Aac	p.D109N	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	109					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.D109N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGAGTTCGACGTGGAGAT	0.567																																						ENST00000307741.6																			1	Substitution - Missense(1)	p.D109N(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(325-327)Gac>Aac		thimet oligopeptidase 1							134.0	114.0	120.0					19																	2794857		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2794857G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.325G>A	19.37:g.2794857G>A	ENSP00000304467:p.Asp109Asn						p.D109N	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	528	+			109					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.325G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591562	0.66219	.	.	ENSG00000172009	ENST00000307741	T	0.07688	3.17	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	L	0.46157	1.445	0.80722	D	1	P	0.42584	0.784	B	0.29353	0.101	T	0.14811	-1.0459	10	0.46703	T	0.11	-59.3907	17.405	0.87471	0.0:0.0:1.0:0.0	.	109	P52888	THOP1_HUMAN	N	109	ENSP00000304467:D109N	ENSP00000304467:D109N	D	+	1	0	THOP1	2745857	1.000000	0.71417	0.971000	0.41717	0.774000	0.43823	9.003000	0.93577	2.451000	0.82905	0.561000	0.74099	GAC		0.567	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			32	58	0	0	0	1	0	32	58				
SEC24A	10802	broad.mit.edu	37	5	133996919	133996919	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133996919G>T	ENST00000398844.2	+	2	496	c.208G>T	c.(208-210)Gtc>Ttc	p.V70F	SEC24A_ENST00000322887.4_Missense_Mutation_p.V70F	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	70					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAATCCAGTCTCTGGACA	0.473																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(208-210)Gtc>Ttc		SEC24 family member A							193.0	188.0	190.0					5																	133996919		1911	4127	6038	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:133996919G>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.208G>T	5.37:g.133996919G>T	ENSP00000381823:p.Val70Phe					SEC24A_ENST00000322887.4_Missense_Mutation_p.V70F	p.V70F	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	496	+			70					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.208G>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954950	0.34471	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97089	-4.24;-4.24	5.78	-0.576	0.11731	.	2.716750	0.02159	N	0.058670	D	0.91586	0.7342	L	0.27053	0.805	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	D	0.83935	0.0308	10	0.09338	T	0.73	-0.1102	1.5429	0.02559	0.2146:0.0993:0.3431:0.343	.	70	O95486	SC24A_HUMAN	F	70	ENSP00000381823:V70F;ENSP00000321749:V70F	ENSP00000321749:V70F	V	+	1	0	SEC24A	134024818	0.058000	0.20735	0.841000	0.33234	0.985000	0.73830	-0.084000	0.11268	0.038000	0.15604	0.655000	0.94253	GTC		0.473	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			17	204	1	0	4.7546e-09	1	5.74312e-09	17	204				
ESX1	80712	broad.mit.edu	37	X	103499526	103499526	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103499526T>C	ENST00000372588.4	-	1	88	c.5A>G	c.(4-6)gAg>gGg	p.E2G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	2					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGAAGAGACTCCATGCTTCA	0.592																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(4-6)gAg>gGg		ESX homeobox 1							164.0	130.0	142.0					X																	103499526		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499526T>C	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.5A>G	X.37:g.103499526T>C	ENSP00000361669:p.Glu2Gly						p.E2G	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			1	88	-			2					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.5A>G	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	t	13.61	2.288194	0.40494	.	.	ENSG00000123576	ENST00000372588	D	0.91996	-2.95	3.69	-0.313	0.12754	POU (1);	.	.	.	.	T	0.79040	0.4379	N	0.08118	0	0.09310	N	1	P	0.47409	0.895	B	0.38842	0.283	T	0.72534	-0.4264	9	0.87932	D	0	0.2975	4.1175	0.10088	0.0:0.1257:0.4284:0.4458	.	2	Q8N693	ESX1_HUMAN	G	2	ENSP00000361669:E2G	ENSP00000361669:E2G	E	-	2	0	ESX1	103386182	0.053000	0.20554	0.001000	0.08648	0.014000	0.08584	0.658000	0.24979	-0.137000	0.11455	0.433000	0.28618	GAG		0.592	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		56	82	0	0	0	1	0	56	82				
VTA1	51534	broad.mit.edu	37	6	142491540	142491540	+	Silent	SNP	T	T	C	rs200664533	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142491540T>C	ENST00000367630.4	+	4	451	c.393T>C	c.(391-393)ttT>ttC	p.F131F	VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Silent_p.F73F|VTA1_ENST00000367621.1_Silent_p.F73F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	131	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAACAGTATTTGGAGAACTCA	0.318																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(391-393)ttT>ttC		vesicle (multivesicular body) trafficking 1							124.0	136.0	132.0					6																	142491540		2203	4294	6497	SO:0001819	synonymous_variant	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142491540T>C	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.393T>C	6.37:g.142491540T>C						VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Silent_p.F73F|VTA1_ENST00000367621.1_Silent_p.F73F	p.F131F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	4	451	+	Breast(32;0.155)		131			Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Silent	SNP	ENST00000367630.4	37	c.393T>C	CCDS5197.1																																																																																				0.318	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		6	150	0	0	0	1	0	6	150				
IPO5	3843	broad.mit.edu	37	13	98673358	98673358	+	Missense_Mutation	SNP	C	C	T	rs139976558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98673358C>T	ENST00000490680.1	+	25	3243	c.3178C>T	c.(3178-3180)Cgt>Tgt	p.R1060C	IPO5_ENST00000261574.5_Missense_Mutation_p.R1078C|IPO5_ENST00000539640.1_Missense_Mutation_p.R935C			O00410	IPO5_HUMAN	importin 5	1060					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGTGCCAAACGTCTGGCCAA	0.418																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(3232-3234)Cgt>Tgt		importin 5		C	CYS/ARG	0,4406		0,0,2203	138.0	141.0	140.0		3232	3.8	1.0	13	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPO5	NM_002271.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1078/1116	98673358	1,13005	2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98673358C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.3178C>T	13.37:g.98673358C>T	ENSP00000418393:p.Arg1060Cys					IPO5_ENST00000539640.1_Missense_Mutation_p.R935C|IPO5_ENST00000490680.1_Missense_Mutation_p.R1060C	p.R1078C	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			28	3412	+			1060					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.3232C>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.632285	0.87660	0.0	1.16E-4	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.12039	2.72;2.73;2.73;2.72	5.6	3.84	0.44239	.	0.050255	0.85682	N	0.000000	T	0.41558	0.1164	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41484	-0.9506	10	0.87932	D	0	-4.9901	11.05	0.47880	0.0:0.8003:0.1299:0.0698	.	1078	O00410-3	.	C	1078;1060;1060;935	ENSP00000261574:R1078C;ENSP00000350219:R1060C;ENSP00000418393:R1060C;ENSP00000445126:R935C	ENSP00000261574:R1078C	R	+	1	0	IPO5	97471359	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.698000	0.61789	0.677000	0.31305	0.655000	0.94253	CGT		0.418	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		44	104	0	0	0	1	0	44	104				
NUP107	57122	broad.mit.edu	37	12	69135688	69135688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69135688C>T	ENST00000229179.4	+	27	2930	c.2598C>T	c.(2596-2598)caC>caT	p.H866H	NUP107_ENST00000539906.1_Silent_p.H837H|NUP107_ENST00000378905.2_Silent_p.H627H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	866					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CGATATTGCACAGTACTGGTC	0.413																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(2596-2598)caC>caT		nucleoporin 107kDa							219.0	196.0	204.0					12																	69135688		2203	4300	6503	SO:0001819	synonymous_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69135688C>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2598C>T	12.37:g.69135688C>T						NUP107_ENST00000378905.2_Silent_p.H627H|NUP107_ENST00000539906.1_Silent_p.H837H	p.H866H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		27	2930	+	Breast(13;6.25e-06)		866					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.2598C>T	CCDS8985.1																																																																																				0.413	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		5	116	0	0	0	1	0	5	116				
C15orf39	56905	broad.mit.edu	37	15	75498566	75498566	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498566G>A	ENST00000360639.2	+	2	497	c.177G>A	c.(175-177)gaG>gaA	p.E59E	C15orf39_ENST00000394987.4_Silent_p.E59E|C15orf39_ENST00000567617.1_Silent_p.E59E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	59						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTAAGGCCGAGTCTGAGCAGT	0.602																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(175-177)gaG>gaA		chromosome 15 open reading frame 39							109.0	70.0	83.0					15																	75498566		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75498566G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.177G>A	15.37:g.75498566G>A						C15orf39_ENST00000394987.4_Silent_p.E59E|C15orf39_ENST00000567617.1_Silent_p.E59E	p.E59E			Q6ZRI6	CO039_HUMAN			2	497	+			59					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.177G>A	CCDS10276.1																																																																																				0.602	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		9	20	0	0	0	1	0	9	20				
ZNF540	163255	broad.mit.edu	37	19	38103579	38103579	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38103579C>A	ENST00000592533.1	+	5	1730	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	ZNF540_ENST00000343599.5_Silent_p.P466P|ZNF540_ENST00000589117.1_Silent_p.P434P|ZNF540_ENST00000316433.4_Silent_p.P466P	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	466					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGAAGCCCTACGAATGTA	0.403																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(1396-1398)ccC>ccA		zinc finger protein 540							90.0	86.0	88.0					19																	38103579		2203	4300	6503	SO:0001819	synonymous_variant	163255							g.chr19:38103579C>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1398C>A	19.37:g.38103579C>A						ZNF540_ENST00000343599.5_Silent_p.P466P|ZNF540_ENST00000589117.1_Silent_p.P434P|ZNF540_ENST00000316433.4_Silent_p.P466P	p.P466P	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1730	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	c.1398C>A	CCDS12506.1																																																																																				0.403	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		6	63	1	0	0.217242	1	0.218821	6	63				
ZNF786	136051	broad.mit.edu	37	7	148768624	148768624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768624C>T	ENST00000491431.1	-	4	1304	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	ZNF786_ENST00000316286.9_Missense_Mutation_p.V328I|ZNF786_ENST00000451334.3_Missense_Mutation_p.V377I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGGTGGACCTGCAGCAGG	0.642																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(982-984)Gtc>Atc		zinc finger protein 786							31.0	33.0	32.0					7																	148768624		2142	4240	6382	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768624C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1240G>A	7.37:g.148768624C>T	ENSP00000417470:p.Val414Ile					ZNF786_ENST00000491431.1_Missense_Mutation_p.V414I|ZNF786_ENST00000451334.3_Missense_Mutation_p.V377I	p.V328I			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1254	-	Melanoma(164;0.15)		414					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.982G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288411	0.40494	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.07567	3.18;3.18;3.18	3.45	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06325	0.0163	N	0.13352	0.335	0.09310	N	1	B	0.30542	0.284	B	0.36719	0.231	T	0.39981	-0.9587	9	0.31617	T	0.26	-3.4659	8.6962	0.34298	0.0:0.7652:0.2348:0.0	.	414	Q8N393	ZN786_HUMAN	I	328;328;414;377	ENSP00000313516:V328I;ENSP00000417470:V414I;ENSP00000404984:V377I	ENSP00000313516:V328I	V	-	1	0	ZNF786	148399557	0.000000	0.05858	0.005000	0.12908	0.064000	0.16182	-1.101000	0.03336	1.797000	0.52628	0.655000	0.94253	GTC		0.642	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		17	28	0	0	0	1	0	17	28				
ALAD	210	broad.mit.edu	37	9	116150638	116150638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150638G>T	ENST00000409155.3	-	12	1131	c.935C>A	c.(934-936)gCt>gAt	p.A312D	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Missense_Mutation_p.A295D	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	312					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GATGATGTCAGCACCTGTGTT	0.547																																						ENST00000409155.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9						c.(934-936)gCt>gAt		aminolevulinate dehydratase	Aminolevulinic acid(DB00855)						108.0	91.0	97.0					9																	116150638		2203	4300	6503	SO:0001583	missense	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116150638G>T	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.935C>A	9.37:g.116150638G>T	ENSP00000386284:p.Ala312Asp					ALAD_ENST00000277315.5_Missense_Mutation_p.A295D	p.A312D	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN			12	1131	-			312					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.935C>A	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620379	0.87460	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.92348	-3.02;-3.02	5.84	5.84	0.93424	Aldolase-type TIM barrel (1);	0.090637	0.85682	D	0.000000	D	0.98121	0.9380	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.993;0.997	D	0.99271	1.0893	10	0.87932	D	0	-10.2598	19.116	0.93340	0.0:0.0:1.0:0.0	.	312;295;341	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	D	312;295	ENSP00000386284:A312D;ENSP00000277315:A295D	ENSP00000277315:A295D	A	-	2	0	ALAD	115190459	1.000000	0.71417	0.996000	0.52242	0.704000	0.40688	8.748000	0.91615	2.768000	0.95171	0.561000	0.74099	GCT		0.547	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		7	53	1	0	0.0293803	1	0.0301098	7	53				
TPTE2P6	374491	broad.mit.edu	37	13	25155764	25155764	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25155764G>A	ENST00000453498.1	+	0	411																											tttataccacgtatgttcctt	0.368																																						ENST00000453498.1																			0																																																			0							g.chr13:25155764G>A																													13.37:g.25155764G>A														0	411	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.368	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			16	9	0	0	0	1	0	16	9				
LPCAT2	54947	broad.mit.edu	37	16	55584911	55584911	+	Missense_Mutation	SNP	C	C	T	rs139462449		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55584911C>T	ENST00000262134.5	+	11	1296	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCATCTATTGCGAGTTCCTCA	0.348																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1111-1113)gCg>gTg		lysophosphatidylcholine acyltransferase 2		C	VAL/ALA	0,4396		0,0,2198	130.0	129.0	129.0		1112	5.7	1.0	16	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	no	missense	LPCAT2	NM_017839.4	64	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	371/545	55584911	2,12994	2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55584911C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1112C>T	16.37:g.55584911C>T	ENSP00000262134:p.Ala371Val						p.A371V	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			11	1296	+			371					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.1112C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331764	0.95733	0.0	2.33E-4	ENSG00000087253	ENST00000262134	T	0.67345	-0.26	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84695	0.0725	10	0.41790	T	0.15	-33.827	20.181	0.98201	0.0:1.0:0.0:0.0	.	371	Q7L5N7	PCAT2_HUMAN	V	371	ENSP00000262134:A371V	ENSP00000262134:A371V	A	+	2	0	LPCAT2	54142412	1.000000	0.71417	0.992000	0.48379	0.828000	0.46876	7.087000	0.76893	2.840000	0.97914	0.655000	0.94253	GCG		0.348	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		35	43	0	0	0	1	0	35	43				
LLGL1	3996	broad.mit.edu	37	17	18145559	18145559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18145559G>A	ENST00000316843.4	+	20	3058	c.2962G>A	c.(2962-2964)Gga>Aga	p.G988R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	988					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GAGCCTTGATGGAAGCCCTGA	0.642																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2962-2964)Gga>Aga		lethal giant larvae homolog 1 (Drosophila)							105.0	104.0	104.0					17																	18145559		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145559G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2962G>A	17.37:g.18145559G>A	ENSP00000321537:p.Gly988Arg						p.G988R	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			20	3058	+	all_neural(463;0.228)		988					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2962G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025664	0.35701	.	.	ENSG00000131899	ENST00000316843	T	0.04654	3.58	5.78	4.81	0.61882	.	1.077110	0.07135	N	0.846330	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.39143	-0.9628	10	0.46703	T	0.11	-5.3735	11.3978	0.49851	0.0839:0.0:0.9161:0.0	.	988	Q15334	L2GL1_HUMAN	R	988	ENSP00000321537:G988R	ENSP00000321537:G988R	G	+	1	0	LLGL1	18086284	0.011000	0.17503	0.269000	0.24586	0.145000	0.21501	0.704000	0.25661	1.586000	0.49944	0.655000	0.94253	GGA		0.642	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			54	90	0	0	0	1	0	54	90				
DLG5	9231	broad.mit.edu	37	10	79628942	79628942	+	Silent	SNP	G	G	A	rs370483432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79628942G>A	ENST00000372391.2	-	2	323	c.318C>T	c.(316-318)agC>agT	p.S106S	DLG5_ENST00000372388.2_Silent_p.S106S|AL391421.1_ENST00000372387.1_3'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	106					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGACAGGACGCTGTAGGTAG	0.592																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(316-318)agC>agT		discs, large homolog 5 (Drosophila)		G		0,4406		0,0,2203	125.0	108.0	114.0		318	-5.6	0.9	10		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DLG5	NM_004747.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		106/1920	79628942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79628942G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.318C>T	10.37:g.79628942G>A						DLG5_ENST00000372388.2_Silent_p.S106S|AL391421.1_ENST00000372387.1_3'UTR	p.S106S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		2	323	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		106					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.318C>T	CCDS7353.2																																																																																				0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			22	27	0	0	0	1	0	22	27				
ZNF665	79788	broad.mit.edu	37	19	53668594	53668594	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668594G>A	ENST00000600412.1	-	2	1069	c.954C>T	c.(952-954)ttC>ttT	p.F318F	ZNF665_ENST00000396424.3_Silent_p.F383F|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AATGCATACTGAAGGCTTTCC	0.408																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(952-954)ttC>ttT		zinc finger protein 665							100.0	102.0	101.0					19																	53668594		2203	4300	6503	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668594G>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.954C>T	19.37:g.53668594G>A						ZNF665_ENST00000396424.3_Silent_p.F383F	p.F318F			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1069	-			318					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.954C>T																																																																																					0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		23	38	0	0	0	1	0	23	38				
P2RY2	5029	broad.mit.edu	37	11	72946205	72946205	+	Missense_Mutation	SNP	G	G	A	rs113741989		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946205G>A	ENST00000311131.2	+	3	1468	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	P2RY2_ENST00000393597.2_Missense_Mutation_p.R334H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R334H	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	334			R -> C (in dbSNP:rs1626154). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.6}.		cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGGCTCGCCGCAGGCTGGGC	0.647																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1000-1002)cGc>cAc		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						27.0	32.0	30.0					11																	72946205		2197	4292	6489	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946205G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1001G>A	11.37:g.72946205G>A	ENSP00000310305:p.Arg334His					P2RY2_ENST00000393597.2_Missense_Mutation_p.R334H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R334H	p.R334H	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1468	+			334		R -> C (in dbSNP:rs1626154).			B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.1001G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	8.448	0.852414	0.17106	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.26373	1.74;1.74;1.74	4.44	2.51	0.30379	.	1.660570	0.03269	N	0.184484	T	0.15825	0.0381	N	0.08118	0	0.29151	N	0.878394	B	0.11235	0.004	B	0.04013	0.001	T	0.18587	-1.0332	10	0.46703	T	0.11	.	7.5071	0.27551	0.2169:0.0:0.7831:0.0	.	334	P41231	P2RY2_HUMAN	H	334	ENSP00000377222:R334H;ENSP00000310305:R334H;ENSP00000377221:R334H	ENSP00000310305:R334H	R	+	2	0	P2RY2	72623853	0.006000	0.16342	0.977000	0.42913	0.386000	0.30323	-0.086000	0.11233	1.005000	0.39183	0.561000	0.74099	CGC		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		24	16	0	0	0	1	0	24	16				
TSHR	7253	broad.mit.edu	37	14	81422108	81422108	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422108C>A	ENST00000541158.2	+	2	406	c.84C>A	c.(82-84)ccC>ccA	p.P28P	TSHR_ENST00000554263.1_Silent_p.P28P|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000342443.6_Silent_p.P28P|TSHR_ENST00000554435.1_Silent_p.P28P|TSHR_ENST00000298171.2_Silent_p.P28P			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	28					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGTCTCCACCCTGCGAGTGCC	0.622			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(82-84)ccC>ccA		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						124.0	112.0	116.0					14																	81422108		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81422108C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.84C>A	14.37:g.81422108C>A						TSHR_ENST00000342443.6_Silent_p.P28P|TSHR_ENST00000298171.2_Silent_p.P28P|TSHR_ENST00000554263.1_Silent_p.P28P|TSHR_ENST00000554435.1_Silent_p.P28P|TSHR_ENST00000557096.1_3'UTR	p.P28P			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	2	406	+			28					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.84C>A	CCDS9872.1																																																																																				0.622	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		47	67	1	0	3.61183e-13	1	4.57395e-13	47	67				
NUP210	23225	broad.mit.edu	37	3	13381787	13381787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13381787C>T	ENST00000254508.5	-	24	3322	c.3240G>A	c.(3238-3240)ccG>ccA	p.P1080P	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1080					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCCTGAACGGGGGAAAGA	0.577																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3238-3240)ccG>ccA		nucleoporin 210kDa							53.0	49.0	50.0					3																	13381787		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13381787C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3240G>A	3.37:g.13381787C>T						NUP210_ENST00000485755.1_Intron	p.P1080P	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			24	3322	-	all_neural(104;0.187)		1080					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3240G>A	CCDS33704.1																																																																																				0.577	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		5	32	0	0	0	1	0	5	32				
VCAN	1462	broad.mit.edu	37	5	82837275	82837275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82837275C>T	ENST00000265077.3	+	8	9018	c.8453C>T	c.(8452-8454)gCg>gTg	p.A2818V	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1831V|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2818	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCAACATTTGCGAAGTTGTCT	0.493																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8452-8454)gCg>gTg		versican							133.0	127.0	129.0					5																	82837275		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837275C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8453C>T	5.37:g.82837275C>T	ENSP00000265077:p.Ala2818Val					VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1831V	p.A2818V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9018	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2818			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8453C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354288	0.41700	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.85171	-1.93;-1.95	6.07	-3.11	0.05299	.	0.524378	0.18885	N	0.128467	T	0.73721	0.3623	L	0.55481	1.735	0.09310	N	1	B;B	0.29037	0.054;0.231	B;B	0.17098	0.017;0.01	T	0.60271	-0.7296	10	0.42905	T	0.14	.	4.599	0.12343	0.4406:0.1919:0.0:0.3674	.	1831;2818	P13611-2;P13611	.;CSPG2_HUMAN	V	2818;1831	ENSP00000265077:A2818V;ENSP00000340062:A1831V	ENSP00000265077:A2818V	A	+	2	0	VCAN	82873031	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.342000	0.07801	-0.620000	0.05641	0.655000	0.94253	GCG		0.493	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		16	75	0	0	0	1	0	16	75				
ITPR1	3708	broad.mit.edu	37	3	4716021	4716021	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4716021G>A	ENST00000443694.2	+	19	2547	c.2547G>A	c.(2545-2547)acG>acA	p.T849T	ITPR1_ENST00000456211.2_Silent_p.T849T|ITPR1_ENST00000423119.2_Silent_p.T864T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.T864T|ITPR1_ENST00000302640.8_Silent_p.T849T|ITPR1_ENST00000357086.4_Silent_p.T864T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	864					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATAAGCTTACGTTTGAGGTAA	0.383																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2590-2592)acG>acA		inositol 1,4,5-trisphosphate receptor, type 1							118.0	111.0	113.0					3																	4716021		1838	4088	5926	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4716021G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2547G>A	3.37:g.4716021G>A						ITPR1_ENST00000423119.2_Silent_p.T864T|ITPR1_ENST00000357086.4_Silent_p.T864T|ITPR1_ENST00000443694.2_Silent_p.T849T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.T849T|ITPR1_ENST00000456211.2_Silent_p.T849T	p.T864T			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	22	2942	+			864					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.2592G>A	CCDS54551.1																																																																																				0.383	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		4	12	0	0	0	1	0	4	12				
DAP3	7818	broad.mit.edu	37	1	155695804	155695804	+	Missense_Mutation	SNP	C	C	A	rs568206981		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155695804C>A	ENST00000368336.5	+	6	590	c.466C>A	c.(466-468)Cca>Aca	p.P156T	MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.P115T|DAP3_ENST00000421487.2_Missense_Mutation_p.P122T|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.P115T|DAP3_ENST00000496863.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.P156T	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	156					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTACATATTCCAGATGGTAA	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		18424	0.0		0.0	False		,,,				2504	0.001					ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(466-468)Cca>Aca		death associated protein 3							127.0	97.0	107.0					1																	155695804		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155695804C>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.466C>A	1.37:g.155695804C>A	ENSP00000357320:p.Pro156Thr					DAP3_ENST00000535183.1_Missense_Mutation_p.P115T|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.P122T|DAP3_ENST00000343043.3_Missense_Mutation_p.P156T|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471214.1_3'UTR	p.P156T	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			6	590	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		156					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.466C>A	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875048	0.72180	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.63880	0.992;0.993;0.993;0.986	D;D;D;D	0.68483	0.938;0.933;0.933;0.958	T	0.72272	-0.4342	10	0.87932	D	0	-12.7946	19.0484	0.93032	0.0:1.0:0.0:0.0	.	115;122;122;156	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	T	156;156;122;115	ENSP00000357320:P156T;ENSP00000341692:P156T;ENSP00000412605:P122T;ENSP00000445003:P115T	ENSP00000341692:P156T	P	+	1	0	DAP3	153962428	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.925000	0.70062	2.823000	0.97156	0.591000	0.81541	CCA		0.368	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		12	48	1	0	9.31168e-06	1	1.06029e-05	12	48				
HNRNPL	3191	broad.mit.edu	37	19	39336649	39336649	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39336649G>A	ENST00000221419.5	-	3	834	c.468C>T	c.(466-468)taC>taT	p.Y156Y	HNRNPL_ENST00000600873.1_Silent_p.Y23Y|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	156	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGTCGGCTGCGTAGTTCACTG	0.522																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(466-468)taC>taT		heterogeneous nuclear ribonucleoprotein L							116.0	110.0	112.0					19																	39336649		2203	4300	6503	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39336649G>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.468C>T	19.37:g.39336649G>A						HNRNPL_ENST00000600873.1_Silent_p.Y23Y	p.Y156Y	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		3	834	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		156			RRM 1.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.468C>T	CCDS33015.1																																																																																				0.522	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			4	106	0	0	0	1	0	4	106				
TMEM63A	9725	broad.mit.edu	37	1	226043589	226043589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226043589T>C	ENST00000366835.3	-	18	1894	c.1624A>G	c.(1624-1626)Atc>Gtc	p.I542V		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	542					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCCAACCTGATGGAGGCCTCC	0.522																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1624-1626)Atc>Gtc		transmembrane protein 63A							55.0	55.0	55.0					1																	226043589		2203	4300	6503	SO:0001583	missense	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226043589T>C		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1624A>G	1.37:g.226043589T>C	ENSP00000355800:p.Ile542Val						p.I542V	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			18	1894	-	Breast(184;0.197)		542					Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	c.1624A>G	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659396	0.29515	.	.	ENSG00000196187	ENST00000366835	T	0.31247	1.5	5.5	-2.61	0.06171	Domain of unknown function DUF221 (1);	0.399070	0.30859	N	0.008730	T	0.15046	0.0363	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.22487	-1.0215	10	0.11794	T	0.64	-23.565	13.3298	0.60479	0.0:0.5545:0.0:0.4455	.	542	O94886	TM63A_HUMAN	V	542	ENSP00000355800:I542V	ENSP00000355800:I542V	I	-	1	0	TMEM63A	224110212	0.007000	0.16637	0.053000	0.19242	0.583000	0.36354	0.130000	0.15850	-0.241000	0.09681	0.379000	0.24179	ATC		0.522	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		11	18	0	0	0	1	0	11	18				
OR2T11	127077	broad.mit.edu	37	1	248789612	248789612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789612G>A	ENST00000330803.2	-	1	879	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATAGAAGGCTGACACTAC	0.488																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(817-819)gCc>gTc		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							92.0	88.0	89.0					1																	248789612		2054	4234	6288	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789612G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.818C>T	1.37:g.248789612G>A	ENSP00000328934:p.Ala273Val						p.A273V	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	879	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		273					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.818C>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	1.681	-0.506485	0.04231	.	.	ENSG00000183130	ENST00000330803	T	0.00015	9.14	4.48	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000829	T	0.00039	0.0001	N	0.00131	-2.04	0.25213	N	0.989965	B	0.26672	0.156	B	0.30943	0.122	T	0.34179	-0.9839	10	0.02654	T	1	.	6.5277	0.22310	0.3637:0.0:0.6363:0.0	.	273	Q8NH01	O2T11_HUMAN	V	273	ENSP00000328934:A273V	ENSP00000328934:A273V	A	-	2	0	OR2T11	246856235	0.012000	0.17670	0.391000	0.26233	0.362000	0.29581	2.343000	0.44001	1.071000	0.40834	0.655000	0.94253	GCC		0.488	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		25	34	0	0	0	1	0	25	34				
CECR1	51816	broad.mit.edu	37	22	17690298	17690298	+	Silent	SNP	C	C	T	rs564327428		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17690298C>T	ENST00000399839.1	-	2	540	c.270G>A	c.(268-270)aaG>aaA	p.K90K	CECR1_ENST00000399837.2_Silent_p.K90K|CECR1_ENST00000449907.2_Silent_p.K48K|CECR1_ENST00000262607.3_Silent_p.K90K	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	90	Dimerization.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAATGAGATGCTTGGCCTGGA	0.498																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(268-270)aaG>aaA		cat eye syndrome chromosome region, candidate 1							75.0	70.0	72.0					22																	17690298		2203	4300	6503	SO:0001819	synonymous_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17690298C>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.270G>A	22.37:g.17690298C>T						CECR1_ENST00000262607.3_Silent_p.K90K|CECR1_ENST00000449907.2_Silent_p.K48K|CECR1_ENST00000399837.2_Silent_p.K90K	p.K90K			Q9NZK5	CECR1_HUMAN			2	540	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	90			Dimerization.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Silent	SNP	ENST00000399839.1	37	c.270G>A	CCDS13742.1																																																																																				0.498	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			16	23	0	0	0	1	0	16	23				
ZNF608	57507	broad.mit.edu	37	5	123984369	123984369	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123984369G>T	ENST00000306315.5	-	4	2143	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	ZNF608_ENST00000504926.1_Missense_Mutation_p.L143M	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	570							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGTACCTCAGGCCGTTAATG	0.493																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1708-1710)Ctg>Atg		zinc finger protein 608							274.0	236.0	249.0					5																	123984369		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984369G>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1708C>A	5.37:g.123984369G>T	ENSP00000307746:p.Leu570Met					ZNF608_ENST00000504926.1_Missense_Mutation_p.L143M	p.L570M	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2143	-		all_cancers(142;0.186)|Prostate(80;0.081)	570					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1708C>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521205	0.64747	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.78707	-1.2;-1.14	5.5	5.5	0.81552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	D	0.87164	0.6109	M	0.78049	2.395	0.41250	D	0.986708	D	0.89917	1.0	D	0.91635	0.999	D	0.88473	0.3063	10	0.87932	D	0	-11.6322	12.2371	0.54522	0.1226:0.0:0.8774:0.0	.	570	Q9ULD9	ZN608_HUMAN	M	143;570;570;570	ENSP00000427657:L143M;ENSP00000307746:L570M	ENSP00000307746:L570M	L	-	1	2	ZNF608	124012268	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.520000	0.53465	2.573000	0.86826	0.544000	0.68410	CTG		0.493	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	73	1	0	0.150653	1	0.152692	4	73				
KMT2C	58508	broad.mit.edu	37	7	151873923	151873923	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151873923G>T	ENST00000262189.6	-	38	8833	c.8615C>A	c.(8614-8616)cCt>cAt	p.P2872H	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2872H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2872					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGATCACAAGGATGCAAAGA	0.413																																						ENST00000355193.2																			0											c.(8614-8616)cCt>cAt		lysine (K)-specific methyltransferase 2C							118.0	113.0	115.0					7																	151873923		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151873923G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8615C>A	7.37:g.151873923G>T	ENSP00000262189:p.Pro2872His					KMT2C_ENST00000262189.6_Missense_Mutation_p.P2872H	p.P2872H							38	8833	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8615C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.338	0.828057	0.16749	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84442	-1.84;-1.85	5.4	5.4	0.78164	.	0.309004	0.22705	N	0.056655	D	0.84710	0.5532	N	0.24115	0.695	0.50039	D	0.999844	P;D;P	0.65815	0.641;0.995;0.547	B;P;B	0.60236	0.436;0.871;0.416	D	0.84974	0.0884	10	0.49607	T	0.09	.	12.5116	0.56009	0.0762:0.0:0.9238:0.0	.	2872;1933;2872	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	H	2872	ENSP00000262189:P2872H;ENSP00000347325:P2872H	ENSP00000262189:P2872H	P	-	2	0	MLL3	151504856	0.436000	0.25586	0.010000	0.14722	0.318000	0.28184	4.085000	0.57657	2.521000	0.84997	0.650000	0.86243	CCT		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	95	1	0	4.96729e-08	1	5.9048e-08	21	95				
ZNF566	84924	broad.mit.edu	37	19	36940060	36940060	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940060C>A	ENST00000434377.2	-	5	1157	c.1076G>T	c.(1075-1077)aGa>aTa	p.R359I	ZNF566_ENST00000424129.2_Missense_Mutation_p.R359I|ZNF566_ENST00000493391.1_Missense_Mutation_p.R255I|ZNF566_ENST00000454319.1_Missense_Mutation_p.R360I|ZNF566_ENST00000392170.2_Missense_Mutation_p.R360I	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGATGTCT	0.378																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1078-1080)aGa>aTa		zinc finger protein 566							60.0	62.0	62.0					19																	36940060		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940060C>A	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.1076G>T	19.37:g.36940060C>A	ENSP00000415520:p.Arg359Ile					ZNF566_ENST00000424129.2_Missense_Mutation_p.R359I|ZNF566_ENST00000392170.2_Missense_Mutation_p.R360I|ZNF566_ENST00000493391.1_Missense_Mutation_p.R255I|ZNF566_ENST00000434377.2_Missense_Mutation_p.R359I	p.R360I	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			5	1213	-	Esophageal squamous(110;0.162)		359					B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.1079G>T	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450769	0.63290	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	3.83	3.83	0.44106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000351	T	0.39145	0.1067	L	0.56124	1.755	0.49130	D	0.999757	D;D	0.67145	0.996;0.987	D;P	0.64144	0.922;0.809	T	0.12837	-1.0532	10	0.52906	T	0.07	.	8.9955	0.36050	0.0:0.8934:0.0:0.1066	.	360;359	B7ZL95;Q969W8	.;ZN566_HUMAN	I	360;359;360;359	ENSP00000394207:R360I;ENSP00000415520:R359I;ENSP00000376010:R360I;ENSP00000401259:R359I	ENSP00000376010:R360I	R	-	2	0	ZNF566	41631900	0.005000	0.15991	1.000000	0.80357	0.998000	0.95712	1.465000	0.35299	2.166000	0.68216	0.555000	0.69702	AGA		0.378	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		4	36	1	0	0.00024832	1	0.0002712	4	36				
COL6A6	131873	broad.mit.edu	37	3	130300717	130300717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130300717C>T	ENST00000358511.6	+	8	3891	c.3860C>T	c.(3859-3861)aCa>aTa	p.T1287I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T1287I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1287	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTATGGGATACATTTCAGAAT	0.333																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3859-3861)aCa>aTa		collagen, type VI, alpha 6							162.0	156.0	158.0					3																	130300717		1857	4085	5942	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130300717C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3860C>T	3.37:g.130300717C>T	ENSP00000351310:p.Thr1287Ile					COL6A6_ENST00000453409.2_Missense_Mutation_p.T1287I	p.T1287I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			8	3891	+			1287			Nonhelical region.|VWFA 7.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3860C>T	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.757|7.757	0.704577|0.704577	0.15172|0.15172	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|T;T	.|0.37235	.|1.21;1.21	6.06|6.06	6.06|6.06	0.98353|0.98353	.|von Willebrand factor, type A (2);	.|.	.|.	.|.	.|.	T|T	0.33556|0.33556	0.0867|0.0867	L|L	0.47190|0.47190	1.495|1.495	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.06405	.|0.002	T|T	0.10086|0.10086	-1.0645|-1.0645	5|9	.|0.36615	.|T	.|0.2	.|.	12.6846|12.6846	0.56940|0.56940	0.0:0.9241:0.0:0.0759|0.0:0.9241:0.0:0.0759	.|.	.|1287	.|A6NMZ7	.|CO6A6_HUMAN	Y|I	45|1287	.|ENSP00000351310:T1287I;ENSP00000399236:T1287I	.|ENSP00000351310:T1287I	H|T	+|+	1|2	0|0	COL6A6|COL6A6	131783407|131783407	0.004000|0.004000	0.15560|0.15560	0.102000|0.102000	0.21198|0.21198	0.043000|0.043000	0.13939|0.13939	1.923000|1.923000	0.40055|0.40055	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.333	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		54	121	0	0	0	1	0	54	121				
APOB	338	broad.mit.edu	37	2	21231046	21231046	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21231046C>T	ENST00000233242.1	-	26	8821	c.8694G>A	c.(8692-8694)ctG>ctA	p.L2898L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2898					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGAAGTCCAGTTTGGGGA	0.443																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8692-8694)ctG>ctA		apolipoprotein B	Atorvastatin(DB01076)						176.0	173.0	174.0					2																	21231046		2203	4299	6502	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231046C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8694G>A	2.37:g.21231046C>T							p.L2898L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8821	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2898					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8694G>A	CCDS1703.1																																																																																				0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			15	200	0	0	0	1	0	15	200				
NUP155	9631	broad.mit.edu	37	5	37324205	37324205	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37324205T>G	ENST00000231498.3	-	20	2299	c.2096A>C	c.(2095-2097)gAa>gCa	p.E699A	NUP155_ENST00000513532.1_Missense_Mutation_p.E699A|NUP155_ENST00000381843.2_Missense_Mutation_p.E640A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	699					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACACTACTTTCAATCTGTAA	0.338																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(2095-2097)gAa>gCa		nucleoporin 155kDa							54.0	54.0	54.0					5																	37324205		2198	4299	6497	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37324205T>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2096A>C	5.37:g.37324205T>G	ENSP00000231498:p.Glu699Ala					NUP155_ENST00000381843.2_Missense_Mutation_p.E640A|NUP155_ENST00000513532.1_Missense_Mutation_p.E699A	p.E699A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		20	2299	-	all_lung(31;0.000137)		699					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2096A>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.251745	0.39797	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.78003	-1.12;-1.12;-1.14	5.92	5.92	0.95590	.	0.092674	0.85682	D	0.000000	T	0.60170	0.2248	N	0.08118	0	0.58432	D	0.999998	B;B	0.19200	0.014;0.034	B;B	0.23150	0.044;0.02	T	0.58160	-0.7685	10	0.10377	T	0.69	.	16.3742	0.83379	0.0:0.0:0.0:1.0	.	699;699	E9PF10;O75694	.;NU155_HUMAN	A	699;640;661;699	ENSP00000231498:E699A;ENSP00000371265:E640A;ENSP00000422019:E699A	ENSP00000231498:E699A	E	-	2	0	NUP155	37359962	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.812000	0.75226	2.263000	0.75096	0.533000	0.62120	GAA		0.338	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		6	49	0	0	0	1	0	6	49				
NLRP5	126206	broad.mit.edu	37	19	56572787	56572787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56572787C>T	ENST00000390649.3	+	15	3496	c.3496C>T	c.(3496-3498)Caa>Taa	p.Q1166*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1166					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTACCCTGTGCAAATAAGGAA	0.498																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(3496-3498)Caa>Taa		NLR family, pyrin domain containing 5							95.0	93.0	94.0					19																	56572787		1974	4157	6131	SO:0001587	stop_gained	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56572787C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3496C>T	19.37:g.56572787C>T	ENSP00000375063:p.Gln1166*						p.Q1166*	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	15	3496	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1166					A8MTY4|Q86W29	Nonsense_Mutation	SNP	ENST00000390649.3	37	c.3496C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133876	0.94517	.	.	ENSG00000171487	ENST00000390649	.	.	.	3.33	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	9.2621	0.37619	0.0:0.5645:0.4355:0.0	.	.	.	.	X	1166	.	ENSP00000375063:Q1166X	Q	+	1	0	NLRP5	61264599	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	0.368000	0.24481	-0.175000	0.13238	CAA		0.498	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		8	52	0	0	0	1	0	8	52				
KIAA1211	57482	broad.mit.edu	37	4	57182683	57182683	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182683G>T	ENST00000504228.1	+	6	3120	c.3015G>T	c.(3013-3015)aaG>aaT	p.K1005N	KIAA1211_ENST00000541073.1_Missense_Mutation_p.K998N|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K1005N			Q6ZU35	K1211_HUMAN	KIAA1211	1005	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCCGTCCAAGGAGGACCAGG	0.652																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3013-3015)aaG>aaT		KIAA1211							30.0	37.0	34.0					4																	57182683		2025	4166	6191	SO:0001583	missense	57482							g.chr4:57182683G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3015G>T	4.37:g.57182683G>T	ENSP00000423366:p.Lys1005Asn					KIAA1211_ENST00000264229.6_Missense_Mutation_p.K1005N|KIAA1211_ENST00000541073.1_Missense_Mutation_p.K998N	p.K1005N			Q6ZU35	K1211_HUMAN			6	3120	+	Glioma(25;0.08)|all_neural(26;0.101)		1005			Pro-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3015G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395735	0.25205	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.12984	2.64;2.64;2.63	5.51	3.59	0.41128	.	.	.	.	.	T	0.10035	0.0246	L	0.38531	1.155	0.09310	N	1	B;B;B	0.28783	0.222;0.043;0.01	B;B;B	0.23275	0.045;0.018;0.018	T	0.22034	-1.0228	9	0.45353	T	0.12	-21.3209	5.4628	0.16626	0.2487:0.0:0.5539:0.1973	.	998;998;1005	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	N	1005;1005;998	ENSP00000264229:K1005N;ENSP00000423366:K1005N;ENSP00000444006:K998N	ENSP00000264229:K1005N	K	+	3	2	KIAA1211	56877440	0.017000	0.18338	0.725000	0.30721	0.056000	0.15407	-0.104000	0.10923	1.312000	0.45043	0.561000	0.74099	AAG		0.652	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	16	1	0	6.4e-05	1	7.11719e-05	3	16				
POGZ	23126	broad.mit.edu	37	1	151395886	151395886	+	Silent	SNP	G	G	T	rs148954998		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151395886G>T	ENST00000271715.2	-	10	1979	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	POGZ_ENST00000368863.2_Silent_p.P460P|POGZ_ENST00000491586.1_Silent_p.P502P|POGZ_ENST00000361398.3_Silent_p.P502P|POGZ_ENST00000409503.1_Silent_p.P546P|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Silent_p.P493P|POGZ_ENST00000392723.1_Silent_p.P502P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	555					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)			TAGATTCATAGGGACTATGAA	0.448																																						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.(1663-1665)ccC>ccA		pogo transposable element with ZNF domain							121.0	106.0	111.0					1																	151395886		2203	4300	6503	SO:0001819	synonymous_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.chr1:151395886G>T	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.1665C>A	1.37:g.151395886G>T						POGZ_ENST00000392723.1_Silent_p.P502P|POGZ_ENST00000491586.1_Silent_p.P502P|POGZ_ENST00000361398.3_Silent_p.P502P|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000368863.2_Silent_p.P460P|POGZ_ENST00000531094.1_Silent_p.P493P|POGZ_ENST00000409503.1_Silent_p.P546P	p.P555P	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)		10	1979	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		555					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.1665C>A	CCDS997.1																																																																																				0.448	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		4	72	1	0	1.23904e-05	1	1.39987e-05	4	72				
ZNF695	57116	broad.mit.edu	37	1	247151450	247151450	+	Missense_Mutation	SNP	G	G	A	rs377175672		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247151450G>A	ENST00000339986.7	-	4	514	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	ZNF695_ENST00000487338.2_Missense_Mutation_p.R123C|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	123					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTAAGCGTAATTTCTCA	0.403																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(367-369)Cgc>Tgc		zinc finger protein 695							200.0	192.0	195.0					1																	247151450		1894	4116	6010	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151450G>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.367C>T	1.37:g.247151450G>A	ENSP00000341236:p.Arg123Cys					ZNF695_ENST00000487338.2_Missense_Mutation_p.R123C|ZNF695_ENST00000498046.2_5'UTR	p.R123C	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	514	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	123					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.367C>T	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216212	0.39201	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.06687	5.73;3.27	0.459	0.459	0.16678	.	.	.	.	.	T	0.06234	0.0161	N	0.12746	0.255	0.24426	N	0.994593	B;B;D	0.61697	0.204;0.007;0.99	B;B;P	0.47744	0.016;0.002;0.556	T	0.37056	-0.9722	9	0.66056	D	0.02	.	6.6488	0.22951	2.0E-4:0.0:0.9998:0.0	.	123;111;123	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	C	123	ENSP00000429736:R123C;ENSP00000341236:R123C	ENSP00000428213:R111C	R	-	1	0	ZNF695	245218073	0.000000	0.05858	0.059000	0.19551	0.325000	0.28411	-1.246000	0.02896	0.479000	0.27511	0.195000	0.17529	CGC		0.403	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		25	221	0	0	0	1	0	25	221				
RBFOX1	54715	broad.mit.edu	37	16	7568364	7568364	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:7568364C>T	ENST00000550418.1	+	5	1231	c.243C>T	c.(241-243)agC>agT	p.S81S	RBFOX1_ENST00000547338.1_Silent_p.S81S|RBFOX1_ENST00000422070.4_Silent_p.S124S|RBFOX1_ENST00000552089.1_Silent_p.S117S|RBFOX1_ENST00000340209.4_Silent_p.S86S|RBFOX1_ENST00000355637.4_Silent_p.S101S|RBFOX1_ENST00000436368.2_Silent_p.S101S|RBFOX1_ENST00000535565.2_Silent_p.S117S|RBFOX1_ENST00000311745.5_Silent_p.S101S|RBFOX1_ENST00000553186.1_Silent_p.S81S|RBFOX1_ENST00000547372.1_Silent_p.S124S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	81					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGACACGAGCGCTCAGACCG	0.657																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(256-258)agC>agT		RNA binding protein, fox-1 homolog (C. elegans) 1							82.0	81.0	81.0					16																	7568364		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568364C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.243C>T	16.37:g.7568364C>T						RBFOX1_ENST00000422070.4_Silent_p.S124S|RBFOX1_ENST00000552089.1_Silent_p.S117S|RBFOX1_ENST00000355637.4_Silent_p.S101S|RBFOX1_ENST00000436368.2_Silent_p.S101S|RBFOX1_ENST00000547372.1_Silent_p.S124S|RBFOX1_ENST00000550418.1_Silent_p.S81S|RBFOX1_ENST00000535565.2_Silent_p.S117S|RBFOX1_ENST00000547338.1_Silent_p.S81S|RBFOX1_ENST00000311745.5_Silent_p.S101S|RBFOX1_ENST00000553186.1_Silent_p.S81S	p.S86S			Q9NWB1	RFOX1_HUMAN			2	555	+			81					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.258C>T	CCDS55983.1																																																																																				0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		36	63	0	0	0	1	0	36	63				
DHX8	1659	broad.mit.edu	37	17	41601141	41601141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601141C>T	ENST00000262415.3	+	23	3661	c.3589C>T	c.(3589-3591)Cgt>Tgt	p.R1197C	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1197					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGCAACAGCGTCTTGAACC	0.512																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3589-3591)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box polypeptide 8							138.0	119.0	125.0					17																	41601141		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41601141C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3589C>T	17.37:g.41601141C>T	ENSP00000262415:p.Arg1197Cys					DHX8_ENST00000540306.1_Intron	p.R1197C	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	23	3661	+		Breast(137;0.00908)	1197						Missense_Mutation	SNP	ENST00000262415.3	37	c.3589C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984809	0.53934	.	.	ENSG00000067596	ENST00000262415	T	0.03689	3.84	6.17	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.08670	0.0215	M	0.81802	2.56	0.80722	D	1	B	0.25105	0.118	B	0.23852	0.049	T	0.01578	-1.1320	10	0.87932	D	0	.	13.9091	0.63855	0.3828:0.6171:0.0:0.0	.	1197	Q14562	DHX8_HUMAN	C	1197	ENSP00000262415:R1197C	ENSP00000262415:R1197C	R	+	1	0	DHX8	38956667	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	2.591000	0.46163	1.584000	0.49913	0.655000	0.94253	CGT		0.512	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			23	42	0	0	0	1	0	23	42				
HDAC5	10014	broad.mit.edu	37	17	42168789	42168789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168789C>T	ENST00000393622.2	-	11	1567	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	HDAC5_ENST00000586802.1_Silent_p.T412T|HDAC5_ENST00000336057.5_Silent_p.T412T|HDAC5_ENST00000225983.6_Silent_p.T413T	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	412					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCCGGTCAGCGTGCCACCCT	0.682																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(1237-1239)acG>acA		histone deacetylase 5							35.0	39.0	38.0					17																	42168789		2202	4299	6501	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42168789C>T	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1236G>A	17.37:g.42168789C>T						HDAC5_ENST00000336057.5_Silent_p.T412T|HDAC5_ENST00000393622.2_Silent_p.T412T|HDAC5_ENST00000586802.1_Silent_p.T412T	p.T413T			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	11	1562	-		Breast(137;0.00637)|Prostate(33;0.0313)	412					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.1239G>A	CCDS45696.1																																																																																				0.682	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		7	21	0	0	0	1	0	7	21				
PRPSAP1	5635	broad.mit.edu	37	17	74344663	74344663	+	Splice_Site	SNP	C	C	A	rs370923809		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74344663C>A	ENST00000446526.3	-	2	616		c.e2-1		PRPSAP1_ENST00000324684.4_Splice_Site	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1						negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACCAAGGCGCCTATAGATCAA	0.259																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.e2-1		phosphoribosyl pyrophosphate synthetase-associated protein 1							21.0	23.0	22.0					17																	74344663		2201	4298	6499	SO:0001630	splice_region_variant	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74344663C>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.171-1G>T	17.37:g.74344663C>A						PRPSAP1_ENST00000324684.4_Splice_Site		NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			2	616	-								B2R6M4|Q96H06	Splice_Site	SNP	ENST00000446526.3	37		CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146001	0.57044	.	.	ENSG00000161542	ENST00000446526;ENST00000442767	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8393	0.70212	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRPSAP1	71856258	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	5.742000	0.68646	2.260000	0.74910	0.455000	0.32223	.		0.259	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766	Intron	3	10	1	0	0.0215528	1	0.0221649	3	10				
PPRC1	23082	broad.mit.edu	37	10	103899528	103899528	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103899528G>T	ENST00000278070.2	+	5	1302	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	PPRC1_ENST00000413464.2_Missense_Mutation_p.K421N|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGAGGAGAAGCTGGACTCAG	0.572																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1261-1263)aaG>aaT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							73.0	76.0	75.0					10																	103899528		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103899528G>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1263G>T	10.37:g.103899528G>T	ENSP00000278070:p.Lys421Asn					PPRC1_ENST00000413464.2_Missense_Mutation_p.K421N	p.K421N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	1302	+		Colorectal(252;0.122)	421					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.1263G>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	8.095	0.775452	0.16051	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.56275	0.47;0.47	5.02	-5.04	0.02964	.	0.771098	0.12028	N	0.506297	T	0.30665	0.0772	N	0.24115	0.695	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.12156	0.003;0.007;0.003	T	0.14309	-1.0477	10	0.42905	T	0.14	.	6.9428	0.24502	0.5543:0.2342:0.2114:0.0	.	421;301;421	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	421	ENSP00000278070:K421N;ENSP00000399743:K421N	ENSP00000278070:K421N	K	+	3	2	PPRC1	103889518	0.000000	0.05858	0.003000	0.11579	0.427000	0.31564	-0.808000	0.04515	-0.821000	0.04312	-1.056000	0.02311	AAG		0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		12	88	1	0	1.08611e-07	1	1.2824e-07	12	88				
ZSWIM2	151112	broad.mit.edu	37	2	187693346	187693346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693346C>A	ENST00000295131.2	-	9	1306	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	423					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D423Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAAAAAGATCTGGTTCTTTC	0.338																																						ENST00000295131.2																			1	Substitution - Missense(1)	p.D423Y(1)	lung(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1267-1269)Gat>Tat		zinc finger, SWIM-type containing 2							74.0	76.0	75.0					2																	187693346		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187693346C>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1267G>T	2.37:g.187693346C>A	ENSP00000295131:p.Asp423Tyr						p.D423Y	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1306	-			423					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1267G>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117278	0.20795	.	.	ENSG00000163012	ENST00000295131	T	0.24538	1.85	5.3	2.19	0.27852	.	0.521509	0.17975	N	0.155733	T	0.09905	0.0243	N	0.08118	0	0.23391	N	0.997777	P	0.36438	0.553	B	0.28232	0.087	T	0.17776	-1.0358	10	0.87932	D	0	-1.3808	4.7294	0.12957	0.0:0.5989:0.1736:0.2274	.	423	Q8NEG5	ZSWM2_HUMAN	Y	423	ENSP00000295131:D423Y	ENSP00000295131:D423Y	D	-	1	0	ZSWIM2	187401591	0.994000	0.37717	0.709000	0.30452	0.537000	0.34900	0.387000	0.20718	0.199000	0.20427	-0.282000	0.10007	GAT		0.338	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		5	56	1	0	0.000602214	1	0.000649039	5	56				
GIMAP1	170575	broad.mit.edu	37	7	150417510	150417510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417510G>A	ENST00000307194.5	+	3	558	c.418G>A	c.(418-420)Ggg>Agg	p.G140R		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	140	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATGTTCGGGGAGGACGT	0.652																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(418-420)Ggg>Agg		GTPase, IMAP family member 1							59.0	56.0	57.0					7																	150417510		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417510G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.418G>A	7.37:g.150417510G>A	ENSP00000302833:p.Gly140Arg						p.G140R	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	558	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.418G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428268	0.62844	.	.	ENSG00000213203	ENST00000307194	T	0.14893	2.47	4.75	4.75	0.60458	AIG1 (1);	0.000000	0.64402	U	0.000002	T	0.51143	0.1657	M	0.93638	3.44	0.42611	D	0.993313	D	0.89917	1.0	D	0.97110	1.0	T	0.63726	-0.6572	10	0.87932	D	0	.	13.1091	0.59263	0.0:0.0:1.0:0.0	.	140	Q8WWP7	GIMA1_HUMAN	R	140	ENSP00000302833:G140R	ENSP00000302833:G140R	G	+	1	0	GIMAP1	150048443	0.992000	0.36948	0.621000	0.29145	0.252000	0.25951	3.294000	0.51787	2.491000	0.84063	0.603000	0.83216	GGG		0.652	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		35	30	0	0	0	1	0	35	30				
UBN1	29855	broad.mit.edu	37	16	4909942	4909942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4909942C>T	ENST00000396658.4	+	5	1347	c.644C>T	c.(643-645)tCg>tTg	p.S215L	UBN1_ENST00000262376.6_Missense_Mutation_p.S215L|UBN1_ENST00000545171.1_Missense_Mutation_p.S215L|UBN1_ENST00000590769.1_Missense_Mutation_p.S215L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	215	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAGAAGAAATCGAAAAAGTCC	0.453																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(643-645)tCg>tTg		ubinuclein 1							94.0	86.0	89.0					16																	4909942		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4909942C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.644C>T	16.37:g.4909942C>T	ENSP00000379894:p.Ser215Leu					UBN1_ENST00000590769.1_Missense_Mutation_p.S215L|UBN1_ENST00000262376.6_Missense_Mutation_p.S215L|UBN1_ENST00000545171.1_Missense_Mutation_p.S215L	p.S215L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			5	1347	+			215			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.644C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929325	0.52759	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.48201	1.41;0.82;1.41	5.49	3.54	0.40534	.	0.200975	0.43260	D	0.000593	T	0.38772	0.1053	L	0.43152	1.355	0.36598	D	0.874512	B;B	0.26041	0.14;0.086	B;B	0.17098	0.017;0.008	T	0.45848	-0.9233	10	0.87932	D	0	-1.4672	11.3666	0.49675	0.0:0.8505:0.0:0.1495	.	215;215	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	L	215	ENSP00000262376:S215L;ENSP00000442379:S215L;ENSP00000379894:S215L	ENSP00000262376:S215L	S	+	2	0	UBN1	4849943	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.304000	0.51866	0.801000	0.34066	-0.258000	0.10820	TCG		0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		15	36	0	0	0	1	0	15	36				
ABCC12	94160	broad.mit.edu	37	16	48120675	48120675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120675C>A	ENST00000311303.3	-	26	4036	c.3691G>T	c.(3691-3693)Gag>Tag	p.E1231*	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1231	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATGTTCTCTCCAGAACCTGC	0.498																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3691-3693)Gag>Tag		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							189.0	188.0	188.0					16																	48120675		2201	4300	6501	SO:0001587	stop_gained	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48120675C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3691G>T	16.37:g.48120675C>A	ENSP00000311030:p.Glu1231*					ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.E1231*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			26	4036	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1231			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.3691G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	42	9.539691	0.99199	.	.	ENSG00000140798	ENST00000311303	.	.	.	4.87	4.87	0.63330	.	0.109713	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.5817	0.61907	0.0:0.843:0.157:0.0	.	.	.	.	X	1231	.	ENSP00000311030:E1231X	E	-	1	0	ABCC12	46678176	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	4.248000	0.58760	2.421000	0.82119	0.563000	0.77884	GAG		0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		46	99	1	0	1.30916e-28	1	1.74989e-28	46	99				
FBN2	2201	broad.mit.edu	37	5	127599171	127599171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127599171G>A	ENST00000508053.1	-	69	9112	c.8138C>T	c.(8137-8139)aCg>aTg	p.T2713M	FBN2_ENST00000262464.4_Missense_Mutation_p.T2713M			P35556	FBN2_HUMAN	fibrillin 2	2713	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T2713M(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCCCCCTCCGTGTTAGAGCA	0.587																																						ENST00000508053.1																			3	Substitution - Missense(3)	p.T2713M(3)	endometrium(2)|large_intestine(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(8137-8139)aCg>aTg		fibrillin 2							86.0	89.0	88.0					5																	127599171		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127599171G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8138C>T	5.37:g.127599171G>A	ENSP00000424571:p.Thr2713Met					FBN2_ENST00000262464.4_Missense_Mutation_p.T2713M	p.T2713M			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	69	9112	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2713			EGF-like 47; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8138C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987338	0.74589	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93189	-3.18;-3.18	5.23	3.37	0.38596	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.099134	0.43747	D	0.000534	D	0.92260	0.7545	L	0.58925	1.835	0.48511	D	0.99966	P	0.52170	0.951	P	0.48598	0.583	D	0.92047	0.5645	10	0.72032	D	0.01	.	10.845	0.46739	0.0716:0.0:0.7952:0.1332	.	2713	P35556	FBN2_HUMAN	M	2713	ENSP00000262464:T2713M;ENSP00000424571:T2713M	ENSP00000262464:T2713M	T	-	2	0	FBN2	127627070	1.000000	0.71417	0.962000	0.40283	0.739000	0.42172	7.704000	0.84595	2.701000	0.92244	0.650000	0.86243	ACG		0.587	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		43	70	0	0	0	1	0	43	70				
TIMP4	7079	broad.mit.edu	37	3	12195185	12195185	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12195185T>C	ENST00000287814.4	-	5	1015	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	169					central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCCGAGATGGTACAGGGTACT	0.483																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000287814.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(505-507)Acc>Gcc		TIMP metallopeptidase inhibitor 4							136.0	126.0	129.0					3																	12195185		2203	4300	6503	SO:0001583	missense	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12195185T>C	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.505A>G	3.37:g.12195185T>C	ENSP00000287814:p.Thr169Ala					SYN2_ENST00000432424.2_RNA	p.T169A	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN			5	1015	-			169					B2R7K6	Missense_Mutation	SNP	ENST00000287814.4	37	c.505A>G	CCDS2608.1	.	.	.	.	.	.	.	.	.	.	T	5.338	0.247726	0.10130	.	.	ENSG00000157150	ENST00000287814	D	0.93019	-3.15	4.88	0.951	0.19579	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.820314	0.11366	N	0.571456	D	0.82843	0.5125	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67488	-0.5658	10	0.13853	T	0.58	.	3.5285	0.07768	0.339:0.2004:0.0:0.4606	.	169	Q99727	TIMP4_HUMAN	A	169	ENSP00000287814:T169A	ENSP00000287814:T169A	T	-	1	0	TIMP4	12170185	0.382000	0.25148	0.907000	0.35723	0.485000	0.33311	1.014000	0.29950	0.373000	0.24621	0.402000	0.26972	ACC		0.483	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		9	76	0	0	0	1	0	9	76				
DOCK9	23348	broad.mit.edu	37	13	99457448	99457448	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99457448G>A	ENST00000376460.1	-	52	5652	c.5572C>T	c.(5572-5574)Ctg>Ttg	p.L1858L	DOCK9_ENST00000339416.2_Silent_p.L1845L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1859	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTAGAATCCAGATCCTTAGGG	0.413																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(5572-5574)Ctg>Ttg		dedicator of cytokinesis 9							79.0	75.0	76.0					13																	99457448		1909	4135	6044	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99457448G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5572C>T	13.37:g.99457448G>A						DOCK9_ENST00000339416.2_Silent_p.L1845L	p.L1858L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			52	5652	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1859			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.5572C>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919689	0.17982	.	.	ENSG00000088387	ENST00000400228	.	.	.	5.55	4.47	0.54385	.	.	.	.	.	T	0.57169	0.2035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53429	-0.8440	4	.	.	.	.	7.3147	0.26493	0.1886:0.0:0.8114:0.0	.	.	.	.	F	420	.	.	S	-	2	0	DOCK9	98255449	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.249000	0.58766	2.753000	0.94483	0.655000	0.94253	TCT		0.413	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		3	4	0	0	0	1	0	3	4				
EI24	9538	broad.mit.edu	37	11	125446203	125446203	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125446203G>T	ENST00000278903.6	+	4	483	c.241G>T	c.(241-243)Gtg>Ttg	p.V81L	RNU6-1156P_ENST00000410365.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.V81L	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	81					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGGTGGAGTGTTCTGGGT	0.368																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(241-243)Gtg>Ttg		etoposide induced 2.4							197.0	180.0	185.0					11																	125446203		1875	4109	5984	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125446203G>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.241G>T	11.37:g.125446203G>T	ENSP00000278903:p.Val81Leu					EI24_ENST00000343678.4_Missense_Mutation_p.V81L|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	p.V81L	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	4	483	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	81					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.241G>T		.	.	.	.	.	.	.	.	.	.	G	29.1	4.974510	0.92919	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842;ENST00000527520;ENST00000527131	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.63046	0.992;0.992;0.992;0.992	D;D;D;D	0.77004	0.983;0.989;0.989;0.987	T	0.70821	-0.4768	9	0.41790	T	0.15	.	18.7806	0.91930	0.0:0.0:1.0:0.0	.	67;81;81;81	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	L	81;81;124;81;67;81	.	ENSP00000278903:V81L	V	+	1	0	EI24	124951413	1.000000	0.71417	0.964000	0.40570	0.973000	0.67179	6.939000	0.75911	2.779000	0.95612	0.655000	0.94253	GTG		0.368	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		8	27	1	0	3.09899e-07	1	3.63227e-07	8	27				
LRRN4	164312	broad.mit.edu	37	20	6022181	6022181	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022181G>A	ENST00000378858.4	-	5	1934	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	570					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGAGGCCGGGGCACCGGCACC	0.701																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1708-1710)tgC>tgT		leucine rich repeat neuronal 4							56.0	63.0	61.0					20																	6022181		2202	4298	6500	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6022181G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1710C>T	20.37:g.6022181G>A							p.C570C	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1934	-			570					A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.1710C>T	CCDS13097.1																																																																																				0.701	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		33	58	0	0	0	1	0	33	58				
HIVEP2	3097	broad.mit.edu	37	6	143094683	143094683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143094683G>A	ENST00000367604.1	-	4	1832	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S398F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S398F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAGTAACCAGAATCAGTGCT	0.433																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(1192-1194)tCt>tTt		human immunodeficiency virus type I enhancer binding protein 2							135.0	130.0	132.0					6																	143094683		1888	4120	6008	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094683G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1193C>T	6.37:g.143094683G>A	ENSP00000356576:p.Ser398Phe					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S398F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S398F	p.S398F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	1935	-			398					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1193C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132111	0.77662	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.44482	0.92;0.92;0.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68957	-0.5272	10	0.87932	D	0	-18.7985	20.0844	0.97795	0.0:0.0:1.0:0.0	.	398	P31629	ZEP2_HUMAN	F	398	ENSP00000356576:S398F;ENSP00000356575:S398F;ENSP00000012134:S398F	ENSP00000012134:S398F	S	-	2	0	HIVEP2	143136376	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	TCT		0.433	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			56	76	0	0	0	1	0	56	76				
SLC22A3	6581	broad.mit.edu	37	6	160864714	160864714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160864714G>A	ENST00000275300.2	+	9	1602	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A485T	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	484					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GGGAATCATAGCCCCATTTCT	0.403																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1453-1455)Gcc>Acc		solute carrier family 22 (organic cation transporter), member 3							124.0	113.0	116.0					6																	160864714		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160864714G>A	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1450G>A	6.37:g.160864714G>A	ENSP00000275300:p.Ala484Thr					SLC22A3_ENST00000275300.2_Missense_Mutation_p.A484T	p.A485T			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	9	1480	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	484					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.1453G>A	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.155839	0.38021	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.61510	0.1;0.1	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	N	0.20445	0.575	0.80722	D	1	P	0.40032	0.699	P	0.47786	0.557	T	0.24440	-1.0160	10	0.19590	T	0.45	.	17.8555	0.88761	0.0:0.0:1.0:0.0	.	484	O75751	S22A3_HUMAN	T	484;485	ENSP00000275300:A484T;ENSP00000375989:A485T	ENSP00000275300:A484T	A	+	1	0	SLC22A3	160784704	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.677000	0.61634	2.724000	0.93272	0.462000	0.41574	GCC		0.403	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		20	43	0	0	0	1	0	20	43				
NDUFV1	4723	broad.mit.edu	37	11	67379590	67379590	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67379590G>T	ENST00000322776.6	+	9	1315		c.e9-1		NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|DOC2GP_ENST00000495263.1_RNA	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						TGTGGCTGCAGGTGTGGACTG	0.622																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.e9-1		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						63.0	69.0	67.0					11																	67379590		2200	4294	6494	SO:0001630	splice_region_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67379590G>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1163-1G>T	11.37:g.67379590G>T						NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site		NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			9	1315	+								O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Splice_Site	SNP	ENST00000322776.6	37		CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105112	0.77096	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0282	0.86453	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFV1	67136166	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.396000	0.97270	2.409000	0.81822	0.561000	0.74099	.		0.622	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103	Intron	14	53	1	0	0.0242445	1	0.0249276	14	53				
ABL1	25	broad.mit.edu	37	9	133760330	133760330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133760330C>T	ENST00000318560.5	+	11	3034	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	885	DNA-binding. {ECO:0000250}.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTCTGAGTCGCCAGGGAGGGA	0.672			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(2653-2655)Cca>Tca		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						10.0	13.0	12.0					9																	133760330		2199	4296	6495	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760330C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2653C>T	9.37:g.133760330C>T	ENSP00000323315:p.Pro885Ser						p.P885S	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3034	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	885			DNA-binding (By similarity).|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.2653C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	2.160	-0.392331	0.04932	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.13901	2.55;2.55	5.03	2.88	0.33553	.	0.210281	0.44285	D	0.000466	T	0.07052	0.0179	N	0.24115	0.695	0.22996	N	0.998453	B;B	0.12013	0.002;0.005	B;B	0.12837	0.003;0.008	T	0.37291	-0.9712	10	0.11182	T	0.66	.	6.5793	0.22585	0.0:0.4916:0.3964:0.112	.	885;922	P00519;Q59FK4	ABL1_HUMAN;.	S	700;904;885	ENSP00000361423:P904S;ENSP00000323315:P885S	ENSP00000323315:P885S	P	+	1	0	ABL1	132750151	0.477000	0.25909	0.485000	0.27403	0.332000	0.28634	1.060000	0.30530	2.345000	0.79718	0.561000	0.74099	CCA		0.672	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		4	12	0	0	0	1	0	4	12				
ZNF154	7710	broad.mit.edu	37	19	58213677	58213677	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58213677C>A	ENST00000512439.2	-	3	836	c.640G>T	c.(640-642)Gta>Tta	p.V214L	AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.V214L|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGTCGTACTGCAGTGTGA	0.443																																						ENST00000512439.2																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12						c.(640-642)Gta>Tta		zinc finger protein 154							97.0	97.0	97.0					19																	58213677		2194	4297	6491	SO:0001583	missense	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213677C>A	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.640G>T	19.37:g.58213677C>A	ENSP00000421258:p.Val214Leu					ZNF154_ENST00000426889.1_Missense_Mutation_p.V214L|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.V214L			Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	836	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	214					A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	c.640G>T	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423247	0.43020	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.18174	2.23;2.23	2.82	0.635	0.17723	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10294	0.0252	N	0.17800	0.525	0.09310	N	1	B	0.21688	0.059	B	0.14578	0.011	T	0.28870	-1.0030	9	0.87932	D	0	.	6.6886	0.23158	0.0:0.7397:0.0:0.2603	.	214	Q13106	ZN154_HUMAN	L	214	ENSP00000421258:V214L;ENSP00000442370:V214L	ENSP00000442370:V214L	V	-	1	0	ZNF154	62905489	0.010000	0.17322	0.007000	0.13788	0.988000	0.76386	2.487000	0.45268	0.254000	0.21573	0.561000	0.74099	GTA		0.443	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			27	84	1	0	8.24728e-16	1	1.06091e-15	27	84				
KIAA0753	9851	broad.mit.edu	37	17	6515458	6515458	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515458C>T	ENST00000361413.3	-	8	1684	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	KIAA0753_ENST00000572370.1_Silent_p.Q143Q|KIAA0753_ENST00000542606.1_Silent_p.Q143Q|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	442						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCGTATCGGGCTGATACTTAT	0.393																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1324-1326)caG>caA		KIAA0753							85.0	85.0	85.0					17																	6515458		1844	4091	5935	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6515458C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1326G>A	17.37:g.6515458C>T						KIAA0753_ENST00000572370.1_Silent_p.Q143Q|KIAA0753_ENST00000542606.1_Silent_p.Q143Q|KIAA0753_ENST00000589033.1_Intron	p.Q442Q	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	8	1684	-			442					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.1326G>A	CCDS42247.1																																																																																				0.393	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		14	31	0	0	0	1	0	14	31				
GLRB	2743	broad.mit.edu	37	4	158057822	158057822	+	Missense_Mutation	SNP	C	C	T	rs145671356		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158057822C>T	ENST00000264428.4	+	5	769	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.R167C|GLRB_ENST00000509282.1_Missense_Mutation_p.R167C	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	167					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.R167C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	CTTTATTTTTCGTGATGGAGA	0.318																																						ENST00000264428.4																			1	Substitution - Missense(1)	p.R167C(1)	skin(1)	central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(499-501)Cgt>Tgt		glycine receptor, beta	Glycine(DB00145)						112.0	114.0	113.0					4																	158057822		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158057822C>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.499C>T	4.37:g.158057822C>T	ENSP00000264428:p.Arg167Cys					GLRB_ENST00000509282.1_Missense_Mutation_p.R167C|GLRB_ENST00000541722.1_Missense_Mutation_p.R167C|GLRB_ENST00000512619.1_Intron	p.R167C	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	5	769	+	all_hematologic(180;0.24)	Renal(120;0.0458)	167					A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.499C>T	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837542	0.91117	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.78126	-1.15;-1.15;-1.15	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.061344	0.64402	D	0.000003	D	0.88243	0.6384	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.89214	0.3566	10	0.72032	D	0.01	.	19.0435	0.93011	0.0:1.0:0.0:0.0	.	167	P48167	GLRB_HUMAN	C	167	ENSP00000264428:R167C;ENSP00000441873:R167C;ENSP00000427186:R167C	ENSP00000264428:R167C	R	+	1	0	GLRB	158277272	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.691000	0.61738	2.487000	0.83934	0.557000	0.71058	CGT		0.318	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		43	71	0	0	0	1	0	43	71				
HIRA	7290	broad.mit.edu	37	22	19319035	19319035	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19319035G>A	ENST00000263208.5	-	25	3238	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	HIRA_ENST00000541063.1_Silent_p.I950I|HIRA_ENST00000340170.4_Silent_p.I787I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	994	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGTTCTGCCCGATGACTGGTA	0.587																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(2980-2982)atC>atT		histone cell cycle regulator							96.0	73.0	81.0					22																	19319035		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19319035G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2982C>T	22.37:g.19319035G>A						HIRA_ENST00000541063.1_Silent_p.I950I|HIRA_ENST00000340170.4_Silent_p.I787I	p.I994I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			25	3238	-	Colorectal(54;0.0993)		994			Interaction with histone H4.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.2982C>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166558	0.21621	.	.	ENSG00000100084	ENST00000539600	.	.	.	4.69	-4.47	0.03525	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53641	-0.8410	5	0.36615	T	0.2	-20.0306	8.8854	0.35400	0.6608:0.0:0.224:0.1152	.	.	.	.	W	474	.	ENSP00000440634:R474W	R	-	1	2	HIRA	17699035	0.076000	0.21285	0.912000	0.35992	0.995000	0.86356	-0.630000	0.05502	-1.015000	0.03375	-0.142000	0.14014	CGG		0.587	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		18	31	0	0	0	1	0	18	31				
SCN2B	6327	broad.mit.edu	37	11	118037666	118037666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118037666T>C	ENST00000278947.5	-	4	825	c.584A>G	c.(583-585)gAc>gGc	p.D195G		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	195					cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCTTCAGGTCATCTGTGCT	0.612																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(583-585)gAc>gGc		sodium channel, voltage-gated, type II, beta subunit							265.0	194.0	218.0					11																	118037666		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118037666T>C	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.584A>G	11.37:g.118037666T>C	ENSP00000278947:p.Asp195Gly						p.D195G	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	4	825	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	195					O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.584A>G	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154518	0.57259	.	.	ENSG00000149575	ENST00000278947	D	0.97665	-4.48	5.04	3.91	0.45181	.	0.105878	0.64402	D	0.000005	D	0.94046	0.8092	N	0.24115	0.695	0.58432	D	0.999991	D	0.67145	0.996	P	0.54759	0.76	D	0.91201	0.4991	10	0.02654	T	1	-38.9302	10.4489	0.44509	0.0:0.0774:0.0:0.9226	.	195	O60939	SCN2B_HUMAN	G	195	ENSP00000278947:D195G	ENSP00000278947:D195G	D	-	2	0	SCN2B	117542876	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.700000	0.74619	0.954000	0.37851	0.533000	0.62120	GAC		0.612	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		10	97	0	0	0	1	0	10	97				
ARL6	84100	broad.mit.edu	37	3	97487043	97487043	+	Missense_Mutation	SNP	C	C	T	rs104893680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97487043C>T	ENST00000463745.1	+	2	569	c.92C>T	c.(91-93)aCg>aTg	p.T31M	ARL6_ENST00000394206.1_Missense_Mutation_p.T31M|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.T31M	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	31			T -> M (in BBS3; abrogates the GTP- binding ability without affecting GDP- binding/dissociating properties; increased proteasomal degradation). {ECO:0000269|PubMed:15314642}.|T -> R (in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation). {ECO:0000269|PubMed:15314642}.		cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGTGGCAAAACGACGATCATT	0.348																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5	GRCh37	CM042294|CM042295	ARL6	M	rs104893680	c.(91-93)aCg>aTg		ADP-ribosylation factor-like 6							120.0	115.0	117.0					3																	97487043		2203	4300	6503	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97487043C>T	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.92C>T	3.37:g.97487043C>T	ENSP00000419619:p.Thr31Met					ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.T31M|ARL6_ENST00000335979.2_Missense_Mutation_p.T31M	p.T31M	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	2	569	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	31		T -> M (in BBS3; abrogates the GTP- binding ability without affecting GDP- binding/dissociating properties; increased proteasomal degradation).|T -> R (in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation).			A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.92C>T	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164857	0.78339	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.092523	0.85682	D	0.000000	D	0.97037	0.9032	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98552	1.0637	10	0.87932	D	0	.	19.1919	0.93671	0.0:1.0:0.0:0.0	.	31	Q9H0F7	ARL6_HUMAN	M	31	ENSP00000419619:T31M;ENSP00000418740:T31M;ENSP00000337722:T31M;ENSP00000377756:T31M	ENSP00000337722:T31M	T	+	2	0	ARL6	98969733	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.553000	0.67287	2.537000	0.85549	0.655000	0.94253	ACG		0.348	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		19	40	0	0	0	1	0	19	40				
C1orf112	55732	broad.mit.edu	37	1	169806110	169806110	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169806110C>A	ENST00000286031.6	+	17	2282	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	C1orf112_ENST00000359326.4_Missense_Mutation_p.L528M|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	528										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGAAAATCTGCCTCTGTG	0.428																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1582-1584)Ctg>Atg		chromosome 1 open reading frame 112							64.0	63.0	63.0					1																	169806110		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169806110C>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1582C>A	1.37:g.169806110C>A	ENSP00000286031:p.Leu528Met					C1orf112_ENST00000359326.4_Missense_Mutation_p.L528M|C1orf112_ENST00000498289.1_3'UTR	p.L528M	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			17	2282	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		528					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.1582C>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429429	0.62844	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.52526	0.66;0.66	6.03	-0.703	0.11261	.	0.134283	0.51477	D	0.000089	T	0.51227	0.1662	M	0.76574	2.34	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71184	0.972;0.972	T	0.56667	-0.7941	10	0.54805	T	0.06	-8.4926	10.3887	0.44156	0.0:0.2973:0.0:0.7027	.	470;528	B4DGF2;Q9NSG2	.;CA112_HUMAN	M	528	ENSP00000352276:L528M;ENSP00000286031:L528M	ENSP00000286031:L528M	L	+	1	2	C1orf112	168072734	0.890000	0.30428	0.595000	0.28798	0.870000	0.49936	-0.110000	0.10824	-0.148000	0.11234	0.655000	0.94253	CTG		0.428	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		14	63	1	0	0.00185496	1	0.00197886	14	63				
GRK4	2868	broad.mit.edu	37	4	3029647	3029647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3029647C>T	ENST00000398052.4	+	11	1322	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	GRK4_ENST00000504933.1_Missense_Mutation_p.R327W|GRK4_ENST00000345167.6_Missense_Mutation_p.R295W|GRK4_ENST00000398051.4_Missense_Mutation_p.R295W|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACACATCCGGATTTCAGA	0.483																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(979-981)Cgg>Tgg		G protein-coupled receptor kinase 4							133.0	128.0	130.0					4																	3029647		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3029647C>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.979C>T	4.37:g.3029647C>T	ENSP00000381129:p.Arg327Trp					GRK4_ENST00000398051.4_Missense_Mutation_p.R295W|GRK4_ENST00000345167.6_Missense_Mutation_p.R295W|GRK4_ENST00000504933.1_Missense_Mutation_p.R327W|GRK4_ENST00000509545.1_3'UTR	p.R327W	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	1322	+			327			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.979C>T	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888368	0.72524	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.17	4.33	0.51752	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.54481	0.1861	M	0.90922	3.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.994;0.999	T	0.59532	-0.7437	10	0.87932	D	0	-14.2282	7.0676	0.25161	0.2662:0.6492:0.0:0.0847	.	295;295;327;327	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	W	295;327;295;327	ENSP00000381128:R295W;ENSP00000381129:R327W;ENSP00000264764:R295W;ENSP00000427445:R327W	ENSP00000264764:R295W	R	+	1	2	GRK4	2999445	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.136000	0.50554	1.185000	0.42971	0.558000	0.71614	CGG		0.483	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		7	48	0	0	0	1	0	7	48				
PAICS	10606	broad.mit.edu	37	4	57325593	57325593	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57325593G>T	ENST00000512576.1	+	9	1328	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H	PAICS_ENST00000264221.2_Missense_Mutation_p.Q389H|PAICS_ENST00000399688.3_Missense_Mutation_p.Q396H|PAICS_ENST00000514888.1_Missense_Mutation_p.Q297H	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	389	AIR carboxylase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TTGCTGCTCAGATATTTGGGT	0.413																																					GBM(53;429 1144 8755 40726)	ENST00000514888.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5						c.(889-891)caG>caT		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)						74.0	65.0	68.0					4																	57325593		1863	4113	5976	SO:0001583	missense	10606				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	g.chr4:57325593G>T	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.1167G>T	4.37:g.57325593G>T	ENSP00000421096:p.Gln389His					PAICS_ENST00000512576.1_Missense_Mutation_p.Q389H|PAICS_ENST00000399688.3_Missense_Mutation_p.Q396H|PAICS_ENST00000264221.2_Missense_Mutation_p.Q389H	p.Q297H			P22234	PUR6_HUMAN			10	1406	+	Glioma(25;0.08)|all_neural(26;0.101)		389			AIR carboxylase.		E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	37	c.891G>T	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894566	0.72639	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.50548	0.75;0.74;0.74;0.74;0.74	5.05	4.2	0.49525	Phosphoribosylaminoimidazole carboxylase, core (4);	0.118556	0.64402	D	0.000012	T	0.69842	0.3156	M	0.88906	2.99	0.51482	D	0.999921	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.72982	0.979;0.972;0.979	T	0.73984	-0.3810	10	0.72032	D	0.01	-4.8533	9.5844	0.39508	0.0732:0.2669:0.6599:0.0	.	389;396;389	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	H	297;389;389;396;389	ENSP00000424907:Q297H;ENSP00000264221:Q389H;ENSP00000424053:Q389H;ENSP00000382595:Q396H;ENSP00000421096:Q389H	ENSP00000264221:Q389H	Q	+	3	2	PAICS	57020350	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.085000	0.64468	1.250000	0.43966	0.585000	0.79938	CAG		0.413	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452		6	30	1	0	0.00116845	1	0.00124821	6	30				
SWT1	54823	broad.mit.edu	37	1	185153476	185153476	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185153476G>A	ENST00000367500.4	+	8	1405	c.1240G>A	c.(1240-1242)Ggt>Agt	p.G414S	SWT1_ENST00000367501.3_Splice_Site_p.G414S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	414	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAAGTACCAGGTATTTACAG	0.284																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.e8+1		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							37.0	40.0	39.0					1																	185153476		2190	4271	6461	SO:0001630	splice_region_variant	54823							g.chr1:185153476G>A	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1240+1G>A	1.37:g.185153476G>A						SWT1_ENST00000367501.3_Splice_Site_p.G414_splice	p.G414_splice	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			8	1405	+			414			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Splice_Site	SNP	ENST00000367500.4	37	c.1240_splice	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226212	0.79576	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19806	2.12;2.12	4.94	4.94	0.65067	Nucleotide binding protein, PINc (1);	0.250049	0.39759	N	0.001271	T	0.43010	0.1228	L	0.56340	1.77	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.29701	-1.0003	10	0.62326	D	0.03	.	16.711	0.85385	0.0:0.0:1.0:0.0	.	414	Q5T5J6	SWT1_HUMAN	S	414	ENSP00000356471:G414S;ENSP00000356470:G414S	ENSP00000356470:G414S	G	+	1	0	SWT1	183420099	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.733000	0.68571	2.412000	0.81896	0.650000	0.86243	GGT		0.284	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	Missense_Mutation	20	21	0	0	0	1	0	20	21				
SLC26A7	115111	broad.mit.edu	37	8	92352738	92352738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92352738G>T	ENST00000276609.3	+	8	1224	c.985G>T	c.(985-987)Gga>Tga	p.G329*	SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G329*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G329*	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCTTGCTCAAGGATCTGCCAA	0.512																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(985-987)Gga>Tga		solute carrier family 26 (anion exchanger), member 7							107.0	97.0	101.0					8																	92352738		2203	4300	6503	SO:0001587	stop_gained	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92352738G>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.985G>T	8.37:g.92352738G>T	ENSP00000276609:p.Gly329*					SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G329*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G329*	p.G329*	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		8	1224	+			329						Nonsense_Mutation	SNP	ENST00000276609.3	37	c.985G>T	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.10|19.10	3.761339|3.761339	0.69763|0.69763	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.219819|.	0.40908|.	D|.	0.000982|.	.|T	.|0.45816	.|0.1361	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55995	.|-0.8052	.|3	0.56958|.	D|.	0.05|.	.|.	7.3963|7.3963	0.26938|0.26938	0.1366:0.0:0.7217:0.1417|0.1366:0.0:0.7217:0.1417	.|.	.|.	.|.	.|.	X|N	329|196	.|.	ENSP00000276609:G329X|.	G|K	+|+	1|3	0|2	SLC26A7|SLC26A7	92421914|92421914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.807000|2.807000	0.47955|0.47955	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.512	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			11	41	1	0	1.08611e-07	1	1.2824e-07	11	41				
INSR	3643	broad.mit.edu	37	19	7267410	7267410	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267410C>T	ENST00000302850.5	-	2	740	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	INSR_ENST00000341500.5_Missense_Mutation_p.V200I	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	200	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCGTTGATGACGGTGGCGGGG	0.537																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(598-600)Gtc>Atc		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						116.0	87.0	97.0					19																	7267410		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267410C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.598G>A	19.37:g.7267410C>T	ENSP00000303830:p.Val200Ile					INSR_ENST00000302850.5_Missense_Mutation_p.V200I	p.V200I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			2	637	-			200			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.598G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103268	0.56183	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.97404	-4.37;-4.37	5.22	5.22	0.72569	Furin-like cysteine-rich domain (1);	0.000000	0.41500	D	0.000877	D	0.94938	0.8363	L	0.44542	1.39	0.43338	D	0.995385	B;B;B	0.19583	0.037;0.006;0.037	B;B;B	0.19391	0.025;0.002;0.025	D	0.92498	0.6006	10	0.48119	T	0.1	.	16.3077	0.82855	0.0:1.0:0.0:0.0	.	191;200;200	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	I	200	ENSP00000303830:V200I;ENSP00000342838:V200I	ENSP00000303830:V200I	V	-	1	0	INSR	7218410	1.000000	0.71417	0.951000	0.38953	0.891000	0.51852	4.302000	0.59092	2.432000	0.82394	0.655000	0.94253	GTC		0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			25	30	0	0	0	1	0	25	30				
RETSAT	54884	broad.mit.edu	37	2	85571786	85571786	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85571786C>T	ENST00000295802.4	-	7	1299	c.1187G>A	c.(1186-1188)gGc>gAc	p.G396D	RETSAT_ENST00000457495.2_Missense_Mutation_p.G335D|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Missense_Mutation_p.G396D	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	396					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCTTGGTGCCTCGCAGGCA	0.577																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1186-1188)gGc>gAc		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						132.0	105.0	114.0					2																	85571786		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571786C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1187G>A	2.37:g.85571786C>T	ENSP00000295802:p.Gly396Asp					RETSAT_ENST00000457495.2_Missense_Mutation_p.G335D|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Missense_Mutation_p.G396D	p.G396D	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			7	1299	-			396					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1187G>A	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.13|19.13	3.767175|3.767175	0.69878|0.69878	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T	.|0.30448	.|1.53;1.64	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45337|0.45337	0.1337|0.1337	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.56035	.|0.929;0.929;0.974	.|P;P;P	.|0.51701	.|0.614;0.614;0.677	T|T	0.49273|0.49273	-0.8957|-0.8957	5|10	.|0.54805	.|T	.|0.06	-21.921|-21.921	15.3038|15.3038	0.73976|0.73976	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|335;335;396	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	T|D	185|396;396;335	.|ENSP00000295802:G396D;ENSP00000405040:G335D	.|ENSP00000263854:G396D	A|G	-|-	1|2	0|0	RETSAT|RETSAT	85425297|85425297	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.106000|0.106000	0.19336|0.19336	7.573000|7.573000	0.82421|0.82421	2.282000|2.282000	0.76494|0.76494	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.577	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		15	35	0	0	0	1	0	15	35				
CLU	1191	broad.mit.edu	37	8	27456013	27456013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27456013G>A	ENST00000316403.10	-	8	1709	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	CLU_ENST00000405140.3_Missense_Mutation_p.A435V|CLU_ENST00000523500.1_Missense_Mutation_p.A435V|CLU_ENST00000546343.1_Missense_Mutation_p.A446V|CLU_ENST00000560366.1_Missense_Mutation_p.A487V			P10909	CLUS_HUMAN	clusterin	435					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGCTTTCTCCGCCACGGTCTC	0.557																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(1303-1305)gCg>gTg		clusterin							72.0	75.0	74.0					8																	27456013		2203	4300	6503	SO:0001583	missense	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27456013G>A	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.1304C>T	8.37:g.27456013G>A	ENSP00000315130:p.Ala435Val					CLU_ENST00000523500.1_Missense_Mutation_p.A435V|CLU_ENST00000560366.1_Missense_Mutation_p.A487V|CLU_ENST00000405140.3_Missense_Mutation_p.A435V|CLU_ENST00000546343.1_Missense_Mutation_p.A446V	p.A435V			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	8	1709	-		Ovarian(32;2.61e-05)	435					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	c.1304C>T	CCDS47832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.098794|3.098794	0.56183|0.56183	.|.	.|.	ENSG00000120885|ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012|ENST00000521770	T;T;T|.	0.25749|.	1.78;1.78;1.78|.	5.53|5.53	3.75|3.75	0.43078|0.43078	Clusterin, C-terminal (1);|.	0.107851|.	0.64402|.	N|.	0.000007|.	T|T	0.61223|0.61223	0.2330|0.2330	L|L	0.58583|0.58583	1.82|1.82	0.48830|0.48830	D|D	0.99971|0.99971	B;D;D;D|.	0.67145|.	0.054;0.996;0.996;0.996|.	B;P;P;P|.	0.52881|.	0.043;0.712;0.712;0.68|.	T|T	0.57154|0.57154	-0.7860|-0.7860	10|5	0.56958|.	D|.	0.05|.	-8.4451|-8.4451	10.4329|10.4329	0.44417|0.44417	0.1591:0.0:0.8409:0.0|0.1591:0.0:0.8409:0.0	.|.	300;487;446;435|.	E7ETA7;P10909-2;P10909-5;P10909|.	.;.;.;CLUS_HUMAN|.	V|W	487;446;435;435;260;300|126	ENSP00000446413:A446V;ENSP00000385419:A435V;ENSP00000429620:A435V|.	ENSP00000315130:A487V|.	A|R	-|-	2|1	0|2	CLU|CLU	27511930|27511930	1.000000|1.000000	0.71417|0.71417	0.837000|0.837000	0.33122|0.33122	0.106000|0.106000	0.19336|0.19336	4.321000|4.321000	0.59209|0.59209	0.725000|0.725000	0.32318|0.32318	-0.122000|-0.122000	0.15005|0.15005	GCG|CGG		0.557	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		38	68	0	0	0	1	0	38	68				
ECEL1	9427	broad.mit.edu	37	2	233349249	233349249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233349249C>A	ENST00000304546.1	-	6	1327	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	ECEL1_ENST00000409941.1_Nonsense_Mutation_p.E373*	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	373					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCACCACCTCCTCTTCCTCT	0.592																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1117-1119)Gag>Tag		endothelin converting enzyme-like 1							141.0	137.0	138.0					2																	233349249		2203	4300	6503	SO:0001587	stop_gained	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349249C>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1117G>T	2.37:g.233349249C>A	ENSP00000302051:p.Glu373*					ECEL1_ENST00000409941.1_Nonsense_Mutation_p.E373*	p.E373*	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	1327	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	373					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Nonsense_Mutation	SNP	ENST00000304546.1	37	c.1117G>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	38	7.136134	0.98088	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	.	.	.	5.73	4.85	0.62838	.	0.050625	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-31.123	14.7894	0.69827	0.0:0.9308:0.0:0.0692	.	.	.	.	X	373	.	ENSP00000302051:E373X	E	-	1	0	ECEL1	233057493	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	7.081000	0.76844	1.438000	0.47492	0.558000	0.71614	GAG		0.592	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		10	142	1	0	1	1	1	10	142				
ATRNL1	26033	broad.mit.edu	37	10	117061554	117061554	+	Splice_Site	SNP	G	G	A	rs370774879		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117061554G>A	ENST00000355044.3	+	17	2944		c.e17+1		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCTGCTCCCGTAAGTATTTA	0.363																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e17+1		attractin-like 1		G		1,4405	2.1+/-5.4	0,1,2202	154.0	135.0	141.0			5.6	1.0	10		141	0,8600		0,0,4300	no	splice-5	ATRNL1	NM_207303.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			117061554	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117061554G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2818+1G>A	10.37:g.117061554G>A						ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Splice_Site		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	2944	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37		CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088170	0.76642	2.27E-4	0.0	ENSG00000107518	ENST00000355044;ENST00000526373;ENST00000423111	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7031	0.96063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRNL1	117051544	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.754000	0.98908	2.664000	0.90586	0.591000	0.81541	.		0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	31	64	0	0	0	1	0	31	64				
TTC37	9652	broad.mit.edu	37	5	94858910	94858910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94858910C>T	ENST00000358746.2	-	18	2051	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTTACTCAGCCACTGCTTGA	0.398																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1753-1755)Gct>Act		tetratricopeptide repeat domain 37							150.0	143.0	146.0					5																	94858910		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94858910C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1753G>A	5.37:g.94858910C>T	ENSP00000351596:p.Ala585Thr						p.A585T	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			18	2051	-			585					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1753G>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439641	0.43326	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.75704	0.23;-0.96	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.058675	0.64402	D	0.000002	T	0.61813	0.2377	N	0.16066	0.365	0.49389	D	0.999783	P;P	0.41232	0.57;0.743	B;P	0.44623	0.428;0.455	T	0.59768	-0.7392	10	0.22109	T	0.4	.	12.7558	0.57335	0.2886:0.7114:0.0:0.0	.	537;585	D6RCE2;Q6PGP7	.;TTC37_HUMAN	T	585;537	ENSP00000351596:A585T;ENSP00000423742:A537T	ENSP00000351596:A585T	A	-	1	0	TTC37	94884666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.004000	0.40854	2.402000	0.81655	0.557000	0.71058	GCT		0.398	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		62	131	0	0	0	1	0	62	131				
LRP2	4036	broad.mit.edu	37	2	170012830	170012830	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170012830G>T	ENST00000263816.3	-	65	12390	c.12105C>A	c.(12103-12105)ggC>ggA	p.G4035G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4035	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TAGACGTGAAGCCATCAGCAC	0.428																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12103-12105)ggC>ggA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						195.0	179.0	185.0					2																	170012830		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170012830G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12105C>A	2.37:g.170012830G>T							p.G4035G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	65	12390	-			4035			EGF-like 15; calcium-binding (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.12105C>A	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	77	1	0	0.00448238	1	0.00472561	8	77				
VPS18	57617	broad.mit.edu	37	15	41192696	41192696	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41192696A>G	ENST00000220509.5	+	4	2019	c.1680A>G	c.(1678-1680)gcA>gcG	p.A560A	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	560					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTACTTTGCAGTGATCATGC	0.627																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1678-1680)gcA>gcG		vacuolar protein sorting 18 homolog (S. cerevisiae)							141.0	142.0	142.0					15																	41192696		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192696A>G	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1680A>G	15.37:g.41192696A>G						VPS18_ENST00000558474.1_Intron	p.A560A	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2019	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	560					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.1680A>G	CCDS10069.1																																																																																				0.627	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			58	100	0	0	0	1	0	58	100				
ADORA3	140	broad.mit.edu	37	1	112045664	112045664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045664C>T	ENST00000241356.4	-	1	718	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_ENST00000486342.1_5'UTR|ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	105			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A105T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CGGTCCACAGCGATGGCCAGC	0.552																																						ENST00000241356.4																			1	Substitution - Missense(1)	p.A105T(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(313-315)Gct>Act		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						65.0	53.0	57.0					1																	112045664		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045664C>T	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.313G>A	1.37:g.112045664C>T	ENSP00000241356:p.Ala105Thr					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T|ADORA3_ENST00000486342.1_5'UTR	p.A105T	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	718	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	105		A -> T (in a colorectal cancer sample; somatic mutation).			A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.313G>A	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920791	0.92249	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.76186	-1.0;-1.0	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000276	D	0.82930	0.5144	M	0.70108	2.13	0.53005	D	0.999968	D;D	0.76494	0.999;0.996	D;P	0.66497	0.944;0.879	D	0.84392	0.0555	10	0.72032	D	0.01	-14.8213	18.8155	0.92075	0.0:1.0:0.0:0.0	.	105;105	P33765;P33765-2	AA3R_HUMAN;.	T	105	ENSP00000358730:A105T;ENSP00000241356:A105T	ENSP00000241356:A105T	A	-	1	0	ADORA3	111847187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.613000	0.88420	0.561000	0.74099	GCT		0.552	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		10	26	0	0	0	1	0	10	26				
C2orf16	84226	broad.mit.edu	37	2	27799629	27799629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799629G>A	ENST00000408964.2	+	1	241	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	64						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAAATCTTTGGAGTTTACTGT	0.413																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(190-192)Gag>Aag		chromosome 2 open reading frame 16							99.0	93.0	95.0					2																	27799629		1867	4095	5962	SO:0001583	missense	84226							g.chr2:27799629G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.190G>A	2.37:g.27799629G>A	ENSP00000386190:p.Glu64Lys						p.E64K	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	241	+	Acute lymphoblastic leukemia(172;0.155)		64					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.190G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197742	0.58126	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	3.32	3.32	0.38043	.	.	.	.	.	T	0.10423	0.0255	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.57425	0.82	T	0.22836	-1.0205	9	0.41790	T	0.15	.	10.4019	0.44235	0.0:0.0:1.0:0.0	.	64	Q68DN1	CB016_HUMAN	K	64	ENSP00000386190:E64K	ENSP00000386190:E64K	E	+	1	0	C2orf16	27653133	0.003000	0.15002	0.016000	0.15963	0.026000	0.11368	1.017000	0.29989	2.160000	0.67779	0.467000	0.42956	GAG		0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		30	35	0	0	0	1	0	30	35				
ZNF121	7675	broad.mit.edu	37	19	9677208	9677208	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677208T>C	ENST00000586602.1	-	6	997	c.581A>G	c.(580-582)cAt>cGt	p.H194R	ZNF121_ENST00000320451.6_Missense_Mutation_p.H194R			P58317	ZN121_HUMAN	zinc finger protein 121	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H194L(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTCTCCAGTATGAATTCTTAC	0.448																																						ENST00000586602.1																			1	Substitution - Missense(1)	p.H194L(1)	lung(1)	breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						c.(580-582)cAt>cGt		zinc finger protein 121							66.0	63.0	64.0					19																	9677208		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677208T>C	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.581A>G	19.37:g.9677208T>C	ENSP00000468643:p.His194Arg					ZNF121_ENST00000320451.6_Missense_Mutation_p.H194R	p.H194R			P58317	ZN121_HUMAN			6	997	-			194						Missense_Mutation	SNP	ENST00000586602.1	37	c.581A>G		.	.	.	.	.	.	.	.	.	.	T	15.86	2.958563	0.53400	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.67523	-0.27	1.3	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76644	0.4016	M	0.78223	2.4	0.29745	N	0.83683	D	0.59357	0.985	D	0.63703	0.917	T	0.68981	-0.5266	9	0.87932	D	0	.	6.6906	0.23169	0.0:0.0:0.0:1.0	.	194	P58317	ZN121_HUMAN	R	194	ENSP00000326967:H194R	ENSP00000326967:H194R	H	-	2	0	ZNF121	9538208	1.000000	0.71417	0.390000	0.26220	0.335000	0.28730	4.695000	0.61767	0.853000	0.35312	0.402000	0.26972	CAT		0.448	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		5	62	0	0	0	1	0	5	62				
FUT1	2523	broad.mit.edu	37	19	49254308	49254308	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49254308G>T	ENST00000310160.3	-	4	1205	c.231C>A	c.(229-231)ctC>ctA	p.L77L	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	77					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGTGCCGGAGAGGGAAGCAG	0.662																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(229-231)ctC>ctA		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							32.0	35.0	34.0					19																	49254308		2201	4300	6501	SO:0001819	synonymous_variant	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49254308G>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.231C>A	19.37:g.49254308G>T							p.L77L	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1205	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	77					O14505|O14506|O14507	Silent	SNP	ENST00000310160.3	37	c.231C>A	CCDS12733.1																																																																																				0.662	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		8	31	1	0	3.09899e-07	1	3.63227e-07	8	31				
TRBV11-1	28582	broad.mit.edu	37	7	142223870	142223870	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142223870C>T	ENST00000390367.3	-	0	313									T cell receptor beta variable 11-1																		GCTCTGCAGGCTGGATCTTGA	0.502																																						ENST00000390367.3																			0																				102.0	101.0	101.0					7																	142223870		1965	4170	6135			0							g.chr7:142223870C>T	M33233		7q34	2012-02-07			ENSG00000211720	ENSG00000211720		"""T cell receptors / TRB locus"""	12180	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV111, TCRBV11S1, TCRBV21S1			OTTHUMG00000158505		7.37:g.142223870C>T														0	313	-									RNA	SNP	ENST00000390367.3	37																																																																																						0.502	TRBV11-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351211.1	NG_001333		8	183	0	0	0	1	0	8	183				
CSNK1A1	1452	broad.mit.edu	37	5	148899866	148899866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148899866C>T	ENST00000377843.2	-	4	922	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CSNK1A1_ENST00000515435.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.R148H|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.R148H	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATTACAGTGACGCCCAATACC	0.318																																					Colon(5;64 69 1309 10383)	ENST00000261798.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(442-444)cGt>cAt		casein kinase 1, alpha 1							95.0	97.0	97.0					5																	148899866		2177	4290	6467	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148899866C>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.443G>A	5.37:g.148899866C>T	ENSP00000367074:p.Arg148His					CSNK1A1_ENST00000515768.1_Missense_Mutation_p.R148H|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.R148H|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.R59H	p.R148H	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	4	875	-			148			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.443G>A	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677357	0.68042	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.35008	0.0917	M	0.86268	2.805	0.80722	D	1	B;B;B;B;B;B	0.28291	0.114;0.114;0.013;0.016;0.206;0.059	B;B;B;B;B;B	0.24848	0.056;0.056;0.006;0.014;0.049;0.035	T	0.26985	-1.0087	10	0.72032	D	0.01	.	19.933	0.97127	0.0:1.0:0.0:0.0	.	59;59;148;148;148;59	B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.;.;.;KC1A_HUMAN;.;.	H	148;148;59;59;148;148	ENSP00000261798:R148H;ENSP00000367074:R148H;ENSP00000426747:R59H;ENSP00000427031:R59H;ENSP00000421689:R148H	ENSP00000261798:R148H	R	-	2	0	CSNK1A1	148880059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.729000	0.84864	2.711000	0.92665	0.655000	0.94253	CGT		0.318	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		25	27	0	0	0	1	0	25	27				
NPHP4	261734	broad.mit.edu	37	1	5965469	5965469	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:5965469T>G	ENST00000378156.4	-	15	2103	c.1838A>C	c.(1837-1839)aAt>aCt	p.N613T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	613					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTGTTTATTGGCATCCAG	0.547																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1837-1839)aAt>aCt		nephronophthisis 4							79.0	79.0	79.0					1																	5965469		1975	4161	6136	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965469T>G	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1838A>C	1.37:g.5965469T>G	ENSP00000367398:p.Asn613Thr					NPHP4_ENST00000478423.2_5'UTR	p.N613T	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	15	2103	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	613					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1838A>C	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	T	7.829	0.719469	0.15372	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.88277	-2.36	5.52	-0.264	0.12950	.	0.920018	0.09320	N	0.818327	D	0.83055	0.5171	L	0.40543	1.245	0.09310	N	1	P	0.39424	0.673	B	0.36464	0.225	T	0.71715	-0.4509	10	0.66056	D	0.02	.	10.097	0.42482	0.0:0.4219:0.0:0.5781	.	613	O75161	NPHP4_HUMAN	T	613;16	ENSP00000367398:N613T	ENSP00000367398:N613T	N	-	2	0	NPHP4	5888056	0.031000	0.19500	0.046000	0.18839	0.058000	0.15608	0.420000	0.21263	0.044000	0.15775	-0.366000	0.07423	AAT		0.547	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			7	59	0	0	0	1	0	7	59				
NOX5	79400	broad.mit.edu	37	15	69329520	69329520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69329520C>T	ENST00000388866.3	+	8	1382	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	NOX5_ENST00000455873.3_Silent_p.C412C|NOX5_ENST00000260364.5_Silent_p.C429C|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Silent_p.C419C|NOX5_ENST00000448182.3_Silent_p.C401C	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	447	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGCCGTGTGCATCATGGAAG	0.577																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1285-1287)tgC>tgT		NADPH oxidase, EF-hand calcium binding domain 5							66.0	59.0	61.0					15																	69329520		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69329520C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1341C>T	15.37:g.69329520C>T						NOX5_ENST00000530406.2_Silent_p.C419C|NOX5_ENST00000448182.3_Silent_p.C401C|NOX5_ENST00000388866.3_Silent_p.C447C|NOX5_ENST00000455873.3_Silent_p.C412C	p.C429C			Q96PH1	NOX5_HUMAN			9	1588	+			447			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1287C>T	CCDS32276.2																																																																																				0.577	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		9	37	0	0	0	1	0	9	37				
PWP1	11137	broad.mit.edu	37	12	108104204	108104204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108104204G>A	ENST00000412830.3	+	14	1481	c.1313G>A	c.(1312-1314)tGt>tAt	p.C438Y	PWP1_ENST00000541166.1_Missense_Mutation_p.C376Y	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	438					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGTTCTTCATGTTGCCCTGAT	0.413																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(1312-1314)tGt>tAt		PWP1 homolog (S. cerevisiae)							178.0	171.0	174.0					12																	108104204		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108104204G>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1313G>A	12.37:g.108104204G>A	ENSP00000387365:p.Cys438Tyr					PWP1_ENST00000541166.1_Missense_Mutation_p.C376Y	p.C438Y	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			14	1481	+			438					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.1313G>A	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447029	0.84101	.	.	ENSG00000136045	ENST00000412830;ENST00000541166	T;T	0.27720	1.65;2.31	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	L	0.39397	1.21	0.80722	D	1	P	0.40197	0.706	B	0.40477	0.33	T	0.03922	-1.0992	10	0.02654	T	1	.	19.5277	0.95213	0.0:0.0:1.0:0.0	.	438	Q13610	PWP1_HUMAN	Y	438;376	ENSP00000387365:C438Y;ENSP00000445249:C376Y	ENSP00000387365:C438Y	C	+	2	0	PWP1	106628334	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	7.229000	0.78088	2.707000	0.92482	0.650000	0.86243	TGT		0.413	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		31	47	0	0	0	1	0	31	47				
IFNA7	3444	broad.mit.edu	37	9	21201944	21201944	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21201944G>A	ENST00000239347.3	-	1	260	c.221C>T	c.(220-222)aCt>aTt	p.T74I		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GATGGCTTGAGTCTTCTGGAA	0.488																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(220-222)aCt>aTt		interferon, alpha 7							128.0	122.0	124.0					9																	21201944		2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201944G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.221C>T	9.37:g.21201944G>A	ENSP00000239347:p.Thr74Ile						p.T74I	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	260	-			74					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.221C>T	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355853	0.24598	.	.	ENSG00000214042	ENST00000239347	T	0.03358	3.96	3.56	1.0	0.19881	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.403303	0.25313	N	0.031561	T	0.06050	0.0157	L	0.45352	1.415	0.09310	N	1	B	0.26081	0.141	B	0.41135	0.348	T	0.31613	-0.9937	10	0.66056	D	0.02	.	8.3618	0.32363	0.0:0.0:0.3952:0.6047	.	74	P01567	IFNA7_HUMAN	I	74	ENSP00000239347:T74I	ENSP00000239347:T74I	T	-	2	0	IFNA7	21191944	0.002000	0.14202	0.007000	0.13788	0.055000	0.15305	0.643000	0.24750	0.577000	0.29470	-0.302000	0.09304	ACT		0.488	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		45	77	0	0	0	1	0	45	77				
AHI1	54806	broad.mit.edu	37	6	135788751	135788751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135788751G>T	ENST00000367800.4	-	4	373	c.157C>A	c.(157-159)Ctt>Att	p.L53I	AHI1_ENST00000457866.2_Missense_Mutation_p.L53I|AHI1_ENST00000327035.6_Missense_Mutation_p.L53I	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	53					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATATAGTGAAGATTGCTTCTA	0.328																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(157-159)Ctt>Att		Abelson helper integration site 1							135.0	124.0	127.0					6																	135788751		1857	4097	5954	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135788751G>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.157C>A	6.37:g.135788751G>T	ENSP00000356774:p.Leu53Ile					AHI1_ENST00000457866.2_Missense_Mutation_p.L53I|AHI1_ENST00000327035.6_Missense_Mutation_p.L53I	p.L53I	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	4	373	-	Breast(56;0.239)|Colorectal(23;0.24)		53					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.157C>A	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	5.290	0.238965	0.10023	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	1.63	1.63	0.23807	.	4.004300	0.00924	U	0.002639	T	0.15392	0.0371	L	0.44542	1.39	0.09310	N	0.999992	B;B	0.18461	0.014;0.028	B;B	0.09377	0.004;0.003	T	0.08269	-1.0730	10	0.21014	T	0.42	.	6.7149	0.23298	0.0:0.0:1.0:0.0	.	53;53	Q8N157-2;Q8N157	.;AHI1_HUMAN	I	53	ENSP00000356774:L53I;ENSP00000388650:L53I;ENSP00000265602:L53I;ENSP00000322478:L53I	ENSP00000265602:L53I	L	-	1	0	AHI1	135830444	0.002000	0.14202	0.002000	0.10522	0.020000	0.10135	0.147000	0.16202	1.187000	0.43000	0.305000	0.20034	CTT		0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		8	25	1	0	3.09899e-07	1	3.63227e-07	8	25				
CDH4	1002	broad.mit.edu	37	20	60427860	60427860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60427860C>T	ENST00000360469.5	+	6	871	c.783C>T	c.(781-783)atC>atT	p.I261I	CDH4_ENST00000543233.1_Silent_p.I187I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	261	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAACCCCATCGACCTGTACA	0.597																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(781-783)atC>atT		cadherin 4, type 1, R-cadherin (retinal)							169.0	127.0	141.0					20																	60427860		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60427860C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.783C>T	20.37:g.60427860C>T						CDH4_ENST00000543233.1_Silent_p.I187I	p.I261I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		6	871	+			261			Cadherin 1.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.783C>T	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		37	64	0	0	0	1	0	37	64				
WFS1	7466	broad.mit.edu	37	4	6304188	6304188	+	Missense_Mutation	SNP	C	C	T	rs147934586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304188C>T	ENST00000226760.1	+	8	2836	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	WFS1_ENST00000503569.1_Missense_Mutation_p.A889V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	889					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCTGTCGGCGGCCTGAGGA	0.637																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2665-2667)gCg>gTg		Wolfram syndrome 1 (wolframin)		C	VAL/ALA,VAL/ALA	1,4399		0,1,2199	32.0	35.0	34.0		2666,2666	3.8	0.9	4	dbSNP_134	34	0,8590		0,0,4295	no	missense,missense	WFS1	NM_001145853.1,NM_006005.3	64,64	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	889/891,889/891	6304188	1,12989	2200	4295	6495	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6304188C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2666C>T	4.37:g.6304188C>T	ENSP00000226760:p.Ala889Val					WFS1_ENST00000503569.1_Missense_Mutation_p.A889V	p.A889V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2836	+			889					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2666C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108009	0.37242	2.27E-4	0.0	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.95171	-3.63;-3.63	4.68	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	L	0.32530	0.975	0.58432	D	0.999994	P	0.45283	0.855	B	0.29942	0.109	D	0.86437	0.1764	10	0.42905	T	0.14	-19.1055	11.945	0.52924	0.0:0.9161:0.0:0.0839	.	889	O76024	WFS1_HUMAN	V	889;889;267	ENSP00000423337:A889V;ENSP00000226760:A889V	ENSP00000226760:A889V	A	+	2	0	WFS1	6355089	1.000000	0.71417	0.931000	0.37212	0.530000	0.34684	3.426000	0.52778	1.211000	0.43351	0.561000	0.74099	GCG		0.637	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			10	12	0	0	0	1	0	10	12				
FBXW11	23291	broad.mit.edu	37	5	171303505	171303505	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171303505G>A	ENST00000265094.5	-	8	1079	c.942C>T	c.(940-942)aaC>aaT	p.N314N	FBXW11_ENST00000425623.2_Silent_p.N282N|FBXW11_ENST00000393802.2_Silent_p.N280N|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Silent_p.N301N	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	314					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATCAATGTGTTAAGAACTT	0.468																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(901-903)aaC>aaT		F-box and WD repeat domain containing 11							133.0	104.0	114.0					5																	171303505		2203	4300	6503	SO:0001819	synonymous_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171303505G>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.942C>T	5.37:g.171303505G>A						FBXW11_ENST00000425623.2_Silent_p.N282N|FBXW11_ENST00000265094.5_Silent_p.N314N|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.N280N	p.N301N	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1273	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	314					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	c.903C>T	CCDS34289.1																																																																																				0.468	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		26	31	0	0	0	1	0	26	31				
BDKRB1	623	broad.mit.edu	37	14	96730334	96730334	+	Silent	SNP	C	C	T	rs370873606		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96730334C>T	ENST00000216629.6	+	3	921	c.315C>T	c.(313-315)ttC>ttT	p.F105F	BDKRB1_ENST00000553356.1_Silent_p.F105F|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	105					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ACTGGCCTTTCGGAGCCCTCC	0.557																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(313-315)ttC>ttT		bradykinin receptor B1		C		1,4405	2.1+/-5.4	0,1,2202	77.0	76.0	76.0		315	-1.5	0.7	14		76	0,8600		0,0,4300	no	coding-synonymous	BDKRB1	NM_000710.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		105/354	96730334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730334C>T	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.315C>T	14.37:g.96730334C>T						RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.F105F	p.F105F	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	921	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	105					A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	ENST00000216629.6	37	c.315C>T	CCDS9943.1																																																																																				0.557	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			27	39	0	0	0	1	0	27	39				
ARGFX	503582	broad.mit.edu	37	3	121305164	121305164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121305164C>A	ENST00000334384.3	+	4	675	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCTTTGTACTCTGATGCCTAT	0.448																																						ENST00000334384.3																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(664-666)tCt>tAt		arginine-fifty homeobox							126.0	126.0	126.0					3																	121305164		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121305164C>A		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.665C>A	3.37:g.121305164C>A	ENSP00000335578:p.Ser222Tyr						p.S222Y	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	4	675	+			222						Missense_Mutation	SNP	ENST00000334384.3	37	c.665C>A	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914144	0.52546	.	.	ENSG00000186103	ENST00000334384	D	0.90504	-2.68	3.56	3.56	0.40772	.	0.571973	0.14734	N	0.301556	D	0.90386	0.6991	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.81765	-0.0783	10	0.49607	T	0.09	-3.1934	10.9407	0.47273	0.0:1.0:0.0:0.0	.	222	A6NJG6	ARGFX_HUMAN	Y	222	ENSP00000335578:S222Y	ENSP00000335578:S222Y	S	+	2	0	ARGFX	122787854	0.001000	0.12720	0.225000	0.23894	0.175000	0.22909	0.818000	0.27295	2.291000	0.77112	0.561000	0.74099	TCT		0.448	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		11	128	1	0	0.000978159	1	0.00105116	11	128				
SIM1	6492	broad.mit.edu	37	6	100841366	100841366	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841366G>T	ENST00000369208.3	-	11	2349	c.1567C>A	c.(1567-1569)Cat>Aat	p.H523N	SIM1_ENST00000262901.4_Missense_Mutation_p.H523N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	523	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCTTACCATGGATCCTGTGG	0.522																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1567-1569)Cat>Aat		single-minded family bHLH transcription factor 1							109.0	102.0	104.0					6																	100841366		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841366G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1567C>A	6.37:g.100841366G>T	ENSP00000358210:p.His523Asn					SIM1_ENST00000262901.4_Missense_Mutation_p.H523N	p.H523N			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2349	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	523			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1567C>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760631	0.49468	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.31510	1.49;1.49	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.427575	0.29073	N	0.013228	T	0.11750	0.0286	N	0.24115	0.695	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.12528	-1.0544	10	0.12103	T	0.63	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	523	P81133	SIM1_HUMAN	N	523	ENSP00000358210:H523N;ENSP00000262901:H523N	ENSP00000262901:H523N	H	-	1	0	SIM1	100948087	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.105000	0.94246	2.731000	0.93534	0.655000	0.94253	CAT		0.522	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		5	72	1	0	0.00307968	1	0.00325696	5	72				
UBAP2	55833	broad.mit.edu	37	9	34017093	34017093	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34017093C>A	ENST00000379238.1	-	2	171	c.54G>T	c.(52-54)caG>caT	p.Q18H	UBAP2_ENST00000480885.1_5'UTR|RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q18H|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q18H|UBAP2_ENST00000360802.1_Missense_Mutation_p.Q18H|UBAP2_ENST00000539807.1_5'UTR					ubiquitin associated protein 2									p.Q18H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGCTGAAATCTGTGGTTTTT	0.333																																						ENST00000379238.1																			1	Substitution - Missense(1)	p.Q18H(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(52-54)caG>caT		ubiquitin associated protein 2							138.0	119.0	125.0					9																	34017093		2203	4300	6503	SO:0001583	missense	55833							g.chr9:34017093C>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.54G>T	9.37:g.34017093C>A	ENSP00000368540:p.Gln18His					UBAP2_ENST00000360802.1_Missense_Mutation_p.Q18H|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q18H|UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q18H	p.Q18H			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	2	171	-			18						Missense_Mutation	SNP	ENST00000379238.1	37	c.54G>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157514	0.38119	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.82	3.94	0.45596	.	0.240274	0.43747	N	0.000521	T	0.42854	0.1221	L	0.55990	1.75	0.33921	D	0.640939	B;D	0.69078	0.023;0.997	B;D	0.64144	0.01;0.922	T	0.55108	-0.8192	10	0.48119	T	0.1	-0.4254	6.9595	0.24590	0.2991:0.6047:0.0:0.0962	.	18;18	E7EWG4;Q5T6F2	.;UBAP2_HUMAN	H	18	ENSP00000368540:Q18H;ENSP00000416932:Q18H;ENSP00000354039:Q18H;ENSP00000404436:Q18H;ENSP00000414800:Q18H	ENSP00000259602:Q18H	Q	-	3	2	UBAP2	34007093	0.999000	0.42202	1.000000	0.80357	0.195000	0.23768	0.580000	0.23803	0.767000	0.33267	-0.182000	0.12963	CAG		0.333	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		4	80	1	0	0.000602214	1	0.000649039	4	80				
HK2	3099	broad.mit.edu	37	2	75113686	75113686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75113686G>A	ENST00000290573.2	+	15	2705	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	HK2_ENST00000409174.1_Missense_Mutation_p.R674Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	702	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R702L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGAGGGGCGGATGTGTGTG	0.557																																						ENST00000290573.2																			1	Substitution - Missense(1)	p.R702L(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2104-2106)cGg>cAg		hexokinase 2							118.0	118.0	118.0					2																	75113686		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113686G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2105G>A	2.37:g.75113686G>A	ENSP00000290573:p.Arg702Gln					HK2_ENST00000409174.1_Missense_Mutation_p.R674Q	p.R702Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			15	2705	+			702			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2105G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146553	0.57044	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96587	-4.06;-4.06	5.49	4.62	0.57501	Hexokinase, C-terminal (1);	0.097779	0.64402	N	0.000001	D	0.91761	0.7394	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	D	0.87736	0.2582	10	0.16896	T	0.51	-23.8776	12.3818	0.55311	0.0805:0.0:0.9195:0.0	.	702	P52789	HXK2_HUMAN	Q	702;702;674	ENSP00000290573:R702Q;ENSP00000387140:R674Q	ENSP00000290573:R702Q	R	+	2	0	HK2	74967194	0.951000	0.32395	0.983000	0.44433	0.927000	0.56198	3.934000	0.56553	1.575000	0.49775	-0.126000	0.14955	CGG		0.557	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		29	51	0	0	0	1	0	29	51				
PRICKLE2	166336	broad.mit.edu	37	3	64133006	64133006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133006C>T	ENST00000295902.6	-	7	1745	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S443N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	387					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCGGTTGAGGCTGGGTGTCTG	0.607																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1159-1161)aGc>aAc		prickle homolog 2 (Drosophila)							75.0	83.0	80.0					3																	64133006		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133006C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1160G>A	3.37:g.64133006C>T	ENSP00000295902:p.Ser387Asn					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S443N	p.S387N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1745	-		Lung NSC(201;0.136)	387					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1160G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657016	0.47467	.	.	ENSG00000163637	ENST00000295902	T	0.61627	0.09	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.70619	-0.4822	10	0.52906	T	0.07	-42.3931	20.3633	0.98874	0.0:1.0:0.0:0.0	.	387	Q7Z3G6	PRIC2_HUMAN	N	387	ENSP00000295902:S387N	ENSP00000295902:S387N	S	-	2	0	PRICKLE2	64108046	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	AGC		0.607	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		40	73	0	0	0	1	0	40	73				
NOSTRIN	115677	broad.mit.edu	37	2	169717336	169717336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169717336G>A	ENST00000317647.7	+	14	1440	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	NOSTRIN_ENST00000444448.2_Missense_Mutation_p.R461Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.R461Q|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.R326Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.R326Q	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	404					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAATATCTCGGCCTTTTTTA	0.368																																						ENST00000444448.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(1381-1383)cGg>cAg		nitric oxide synthase trafficking							102.0	94.0	97.0					2																	169717336		1844	4081	5925	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169717336G>A	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1211G>A	2.37:g.169717336G>A	ENSP00000318921:p.Arg404Gln					NOSTRIN_ENST00000397206.2_Missense_Mutation_p.R326Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.R461Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.R326Q|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.R404Q	p.R461Q			Q8IVI9	NOSTN_HUMAN			17	1858	+			404			SH3.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.1382G>A	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490978	0.84962	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.37235	1.34;1.34;1.21;1.4;1.4;1.41;1.41	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.75447	2.3	0.80722	D	1	P;P;P;D;P;P	0.58268	0.771;0.954;0.922;0.982;0.922;0.936	B;P;B;P;B;B	0.50405	0.23;0.491;0.296;0.64;0.277;0.372	T	0.37549	-0.9701	10	0.15499	T	0.54	-9.0714	15.559	0.76223	0.0:0.0:1.0:0.0	.	376;326;461;298;404;461	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	Q	461;461;404;326;326;376;376	ENSP00000402140:R461Q;ENSP00000394051:R461Q;ENSP00000318921:R404Q;ENSP00000404413:R326Q;ENSP00000380390:R326Q;ENSP00000380392:R376Q;ENSP00000401316:R376Q	ENSP00000318921:R404Q	R	+	2	0	NOSTRIN	169425582	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.012000	0.64017	2.732000	0.93576	0.650000	0.86243	CGG		0.368	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		28	55	0	0	0	1	0	28	55				
IPO13	9670	broad.mit.edu	37	1	44423124	44423124	+	Silent	SNP	C	C	T	rs186187535		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44423124C>T	ENST00000372343.3	+	7	2105	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	481					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGACCATTGACGTCAACTATT	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23110	0.0		0.0	False		,,,				2504	0.0					ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1441-1443)gaC>gaT		importin 13							151.0	127.0	135.0					1																	44423124		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44423124C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1443C>T	1.37:g.44423124C>T						IPO13_ENST00000492152.1_3'UTR	p.D481D	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			7	2105	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	481					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.1443C>T	CCDS503.1																																																																																				0.567	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		18	55	0	0	0	1	0	18	55				
DHX8	1659	broad.mit.edu	37	17	41601117	41601117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601117C>A	ENST00000262415.3	+	23	3637	c.3565C>A	c.(3565-3567)Cta>Ata	p.L1189I	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1189					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCCAACTAAGCTAAGCAAACA	0.517																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3565-3567)Cta>Ata		DEAH (Asp-Glu-Ala-His) box polypeptide 8							134.0	114.0	121.0					17																	41601117		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41601117C>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3565C>A	17.37:g.41601117C>A	ENSP00000262415:p.Leu1189Ile					DHX8_ENST00000540306.1_Intron	p.L1189I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	23	3637	+		Breast(137;0.00908)	1189						Missense_Mutation	SNP	ENST00000262415.3	37	c.3565C>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350634	0.61183	.	.	ENSG00000067596	ENST00000262415	T	0.03553	3.89	6.17	5.21	0.72293	.	0.000000	0.64402	D	0.000002	T	0.06188	0.0160	L	0.52126	1.63	0.80722	D	1	B	0.27229	0.172	B	0.32393	0.145	T	0.36601	-0.9741	10	0.29301	T	0.29	.	14.6864	0.69052	0.0:0.9312:0.0:0.0688	.	1189	Q14562	DHX8_HUMAN	I	1189	ENSP00000262415:L1189I	ENSP00000262415:L1189I	L	+	1	2	DHX8	38956643	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.087000	0.71362	1.627000	0.50400	0.655000	0.94253	CTA		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			6	57	1	0	0.00198382	1	0.00210581	6	57				
MYO18B	84700	broad.mit.edu	37	22	26272207	26272207	+	Missense_Mutation	SNP	G	G	A	rs375337701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272207G>A	ENST00000407587.2	+	24	4304	c.4135G>A	c.(4135-4137)Gca>Aca	p.A1379T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1378T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1378T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1378						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGTGTTCCTCGCAGTCAAGGA	0.572																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4132-4134)Gca>Aca		myosin XVIIIB		G	THR/ALA	0,4176		0,0,2088	44.0	48.0	46.0		4132	1.3	0.4	22		46	1,8441		0,1,4220	no	missense	MYO18B	NM_032608.5	58	0,1,6308	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	1378/2568	26272207	1,12617	2088	4221	6309	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26272207G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4135G>A	22.37:g.26272207G>A	ENSP00000386096:p.Ala1379Thr					MYO18B_ENST00000536101.1_Missense_Mutation_p.A1378T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1379T	p.A1378T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			24	4382	+			1378					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4132G>A		.	.	.	.	.	.	.	.	.	.	G	13.84	2.358213	0.41801	0.0	1.18E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.74526	-0.85;-0.85;-0.85	4.73	1.32	0.21799	.	0.669254	0.13702	N	0.368772	T	0.61060	0.2317	M	0.66439	2.03	0.09310	N	0.999999	P;P;P;P	0.42357	0.777;0.669;0.733;0.777	B;B;B;B	0.31016	0.123;0.057;0.084;0.123	T	0.55768	-0.8089	10	0.48119	T	0.1	.	2.7224	0.05204	0.0938:0.1598:0.4184:0.328	.	891;1378;1379;1378	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1378;1378;1379	ENSP00000441229:A1378T;ENSP00000334563:A1378T;ENSP00000386096:A1379T	ENSP00000334563:A1378T	A	+	1	0	MYO18B	24602207	0.362000	0.24980	0.398000	0.26321	0.943000	0.58893	1.866000	0.39489	0.126000	0.18424	-0.158000	0.13435	GCA		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	13	0	0	0	1	0	9	13				
NDRG4	65009	broad.mit.edu	37	16	58538527	58538527	+	Missense_Mutation	SNP	G	G	A	rs375498784		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538527G>A	ENST00000570248.1	+	5	452	c.346G>A	c.(346-348)Gga>Aga	p.G116R	NDRG4_ENST00000356752.4_Missense_Mutation_p.G146R|NDRG4_ENST00000563799.1_Missense_Mutation_p.G134R|NDRG4_ENST00000569923.1_Missense_Mutation_p.G61R|NDRG4_ENST00000568640.1_Missense_Mutation_p.G134R|NDRG4_ENST00000394279.2_Missense_Mutation_p.G148R|NDRG4_ENST00000562999.1_Missense_Mutation_p.G116R|NDRG4_ENST00000394282.4_Missense_Mutation_p.G168R|NDRG4_ENST00000258187.5_Missense_Mutation_p.G148R|NDRG4_ENST00000566192.1_Missense_Mutation_p.G116R	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	116					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGTGGGCGCCGGAGCCTATGT	0.597																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(502-504)Gga>Aga		NDRG family member 4		G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4396		0,0,2198	136.0	112.0	120.0		502,436,400,346,346,442,442	5.5	1.0	16		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	125,125,125,125,125,125,125	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	168/392,146/370,134/358,116/353,116/340,148/372,148/372	58538527	1,12995	2198	4300	6498	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538527G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.346G>A	16.37:g.58538527G>A	ENSP00000457659:p.Gly116Arg					NDRG4_ENST00000258187.5_Missense_Mutation_p.G148R|NDRG4_ENST00000566192.1_Missense_Mutation_p.G116R|NDRG4_ENST00000563799.1_Missense_Mutation_p.G134R|NDRG4_ENST00000562999.1_Missense_Mutation_p.G116R|NDRG4_ENST00000394279.2_Missense_Mutation_p.G148R|NDRG4_ENST00000356752.4_Missense_Mutation_p.G146R|NDRG4_ENST00000570248.1_Missense_Mutation_p.G116R|NDRG4_ENST00000569923.1_Missense_Mutation_p.G61R|NDRG4_ENST00000568640.1_Missense_Mutation_p.G134R	p.G168R	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			7	909	+			116					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.502G>A	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746001	0.89663	0.0	1.16E-4	ENSG00000103034	ENST00000258187;ENST00000421602;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75287	0.3829	M	0.91872	3.25	0.80722	D	1	D;D;P;P;D;D;D	0.71674	0.994;0.997;0.772;0.947;0.983;0.998;0.973	P;P;B;B;B;P;P	0.56474	0.715;0.799;0.353;0.182;0.363;0.685;0.596	T	0.81897	-0.0722	10	0.87932	D	0	-31.3171	18.4047	0.90529	0.0:0.0:1.0:0.0	.	134;146;134;116;116;168;148	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	R	148;61;168;148;146	ENSP00000258187:G148R;ENSP00000377823:G168R;ENSP00000377820:G148R;ENSP00000349193:G146R	ENSP00000258187:G148R	G	+	1	0	NDRG4	57096028	1.000000	0.71417	0.988000	0.46212	0.739000	0.42172	9.848000	0.99507	2.598000	0.87819	0.561000	0.74099	GGA		0.597	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			22	38	0	0	0	1	0	22	38				
ADCYAP1R1	117	broad.mit.edu	37	7	31117681	31117681	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31117681C>A	ENST00000304166.4	+	4	522	c.233C>A	c.(232-234)cCt>cAt	p.P78H	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P78H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	78					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCAGCTGCCCTGAGCTCTTC	0.592																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(232-234)cCt>cAt		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							142.0	113.0	123.0					7																	31117681		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31117681C>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.233C>A	7.37:g.31117681C>A	ENSP00000306620:p.Pro78His					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P78H	p.P78H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			4	522	+			78					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.233C>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585329	0.86748	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.81163	-1.11;-1.46;-1.11;-1.11	5.2	5.2	0.72013	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;1.0	D	0.93450	0.6801	10	0.87932	D	0	.	16.3218	0.82953	0.0:1.0:0.0:0.0	.	78;78;78;78;78	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	H	78	ENSP00000306620:P78H;ENSP00000387335:P78H;ENSP00000379514:P78H;ENSP00000386395:P78H	ENSP00000306620:P78H	P	+	2	0	ADCYAP1R1	31084206	0.999000	0.42202	0.820000	0.32676	0.794000	0.44872	6.622000	0.74233	2.435000	0.82474	0.644000	0.83932	CCT		0.592	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		9	62	1	0	2.17888e-05	1	2.45068e-05	9	62				
FARP1	10160	broad.mit.edu	37	13	99030088	99030088	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99030088C>T	ENST00000319562.6	+	6	677	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	FARP1_ENST00000376586.2_Silent_p.L138L|FARP1_ENST00000595437.1_Silent_p.L138L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	138	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCTGTTCGCGCTGCAGGTGAA	0.547																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(412-414)Ctg>Ttg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							145.0	122.0	130.0					13																	99030088		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99030088C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.412C>T	13.37:g.99030088C>T						FARP1_ENST00000595437.1_Silent_p.L138L|FARP1_ENST00000319562.6_Silent_p.L138L	p.L138L			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		6	748	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		138			FERM.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.412C>T	CCDS9487.1																																																																																				0.547	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		23	24	0	0	0	1	0	23	24				
RNF213	57674	broad.mit.edu	37	17	78282876	78282876	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78282876G>T	ENST00000582970.1	+	14	2703	c.2560G>T	c.(2560-2562)Gcc>Tcc	p.A854S	RNF213_ENST00000319921.4_Missense_Mutation_p.A854S|RNF213_ENST00000456466.1_Missense_Mutation_p.A854S|RNF213_ENST00000508628.2_Missense_Mutation_p.A903S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	854					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTGCATGAAGCCATCTGCAG	0.488																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2560-2562)Gcc>Tcc		ring finger protein 213							166.0	152.0	156.0					17																	78282876		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78282876G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2560G>T	17.37:g.78282876G>T	ENSP00000464087:p.Ala854Ser					RNF213_ENST00000508628.2_Missense_Mutation_p.A903S|RNF213_ENST00000456466.1_Missense_Mutation_p.A854S|RNF213_ENST00000319921.4_Missense_Mutation_p.A854S	p.A854S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		14	2703	+	all_neural(118;0.0538)		854					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.2560G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456560	0.26161	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13778	2.56;2.56	5.38	-5.14	0.02875	.	1.126740	0.06642	N	0.761195	T	0.07638	0.0192	L	0.29908	0.895	0.09310	N	1	P;P	0.34462	0.454;0.454	B;B	0.31495	0.131;0.131	T	0.38802	-0.9644	10	0.19147	T	0.46	-3.7762	6.8298	0.23902	0.4285:0.0:0.4541:0.1175	.	854;854	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	S	854;903;854;854	ENSP00000392123:A854S;ENSP00000324392:A854S	ENSP00000324392:A854S	A	+	1	0	RNF213	75897471	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.116000	0.10724	-0.499000	0.06623	-0.136000	0.14681	GCC		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	91	1	0	0.00024832	1	0.0002712	4	91				
ATRX	546	broad.mit.edu	37	X	76918942	76918942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76918942C>T	ENST00000373344.5	-	12	4263	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	ATRX_ENST00000395603.3_Missense_Mutation_p.G1312E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1350					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCAGATTCTCCGTCACTCAC	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4048-4050)gGa>gAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						146.0	120.0	129.0					X																	76918942		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918942C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4049G>A	X.37:g.76918942C>T	ENSP00000362441:p.Gly1350Glu					ATRX_ENST00000395603.3_Missense_Mutation_p.G1312E|ATRX_ENST00000480283.1_5'UTR	p.G1350E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4263	-			1350					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4049G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964858	0.53507	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92199	-2.99;-2.99	4.16	4.16	0.48862	.	0.000000	0.64402	U	0.000001	D	0.95118	0.8418	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.94708	0.7889	10	0.40728	T	0.16	-8.8831	16.0957	0.81123	0.0:1.0:0.0:0.0	.	1282;1312;1350	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	E	1350;1312;1277	ENSP00000362441:G1350E;ENSP00000378967:G1312E	ENSP00000362441:G1350E	G	-	2	0	ATRX	76805598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.408000	0.73285	1.789000	0.52484	0.600000	0.82982	GGA		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		40	41	0	0	0	1	0	40	41				
PRELID2	153768	broad.mit.edu	37	5	145176105	145176105	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145176105T>A	ENST00000334744.4	-	6	462	c.410A>T	c.(409-411)gAg>gTg	p.E137V	PRELID2_ENST00000394450.2_Missense_Mutation_p.E96V|PRELID2_ENST00000505416.1_Missense_Mutation_p.E125V|PRELID2_ENST00000510594.1_5'Flank|PRELID2_ENST00000511435.1_Missense_Mutation_p.E125V|PRELID2_ENST00000358004.2_Missense_Mutation_p.E125V	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	137	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAATGAACTCTGTCCTGCA	0.383																																						ENST00000334744.4																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(409-411)gAg>gTg		PRELI domain containing 2							86.0	92.0	90.0					5																	145176105		2203	4300	6503	SO:0001583	missense	153768							g.chr5:145176105T>A	AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000334744.4:c.410A>T	5.37:g.145176105T>A	ENSP00000335675:p.Glu137Val					PRELID2_ENST00000505416.1_Missense_Mutation_p.E125V|PRELID2_ENST00000394450.2_Missense_Mutation_p.E96V|PRELID2_ENST00000511435.1_Missense_Mutation_p.E125V|PRELID2_ENST00000358004.2_Missense_Mutation_p.E125V	p.E137V	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	462	-			137			PRELI/MSF1.		G5EA01|Q96EQ3	Missense_Mutation	SNP	ENST00000334744.4	37	c.410A>T	CCDS34262.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105067	0.56291	.	.	ENSG00000186314	ENST00000358004;ENST00000334744;ENST00000394450;ENST00000505416;ENST00000511435	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.4	5.4	0.78164	PRELI/MSF1 (2);	0.000000	0.64402	D	0.000001	T	0.22166	0.0534	L	0.45137	1.4	0.50039	D	0.999844	P;B;P	0.45126	0.476;0.42;0.851	B;B;P	0.49252	0.326;0.219;0.604	T	0.01666	-1.1300	10	0.25751	T	0.34	-22.1692	12.9689	0.58501	0.0:0.0:0.0:1.0	.	125;125;137	D6RAB6;G5EA01;Q8N945	.;.;PRLD2_HUMAN	V	125;137;96;125;125	ENSP00000350694:E125V;ENSP00000335675:E137V;ENSP00000377965:E96V;ENSP00000424730:E125V;ENSP00000422789:E125V	ENSP00000335675:E137V	E	-	2	0	PRELID2	145156298	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.354000	0.59417	2.052000	0.61016	0.459000	0.35465	GAG		0.383	PRELID2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000372970.1	NM_182960		11	76	0	0	0	1	0	11	76				
AIFM3	150209	broad.mit.edu	37	22	21328398	21328398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21328398C>A	ENST00000399167.2	+	5	642	c.402C>A	c.(400-402)tgC>tgA	p.C134*	AIFM3_ENST00000440238.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.C134*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.C140*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.C122*	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	134	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGCGCCTGCTTCAACATCA	0.662																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(400-402)tgC>tgA		apoptosis-inducing factor, mitochondrion-associated, 3							29.0	33.0	31.0					22																	21328398		2203	4300	6503	SO:0001587	stop_gained	150209							g.chr22:21328398C>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.402C>A	22.37:g.21328398C>A	ENSP00000382120:p.Cys134*					AIFM3_ENST00000440238.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.C122*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.C134*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.C140*	p.C134*	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		5	642	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Nonsense_Mutation	SNP	ENST00000399167.2	37	c.402C>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	36	5.976535	0.97162	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	.	.	.	4.97	2.72	0.32119	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1486	8.0475	0.30557	0.0:0.7473:0.1617:0.091	.	.	.	.	X	134;134;134;140;122;134;134	.	ENSP00000327671:C134X	C	+	3	2	AIFM3	19658398	0.985000	0.35326	1.000000	0.80357	0.995000	0.86356	0.213000	0.17521	1.229000	0.43630	0.655000	0.94253	TGC		0.662	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		10	12	1	0	0.000673444	1	0.000724755	10	12				
LVRN	206338	broad.mit.edu	37	5	115350196	115350196	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115350196G>A	ENST00000357872.4	+	16	2546	c.2422G>A	c.(2422-2424)Gca>Aca	p.A808T	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		808						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGAACTTTTCGCAAAATGGGT	0.363																																						ENST00000357872.4																			0											c.(2422-2424)Gca>Aca									105.0	99.0	101.0					5																	115350196		2202	4300	6502	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115350196G>A																												ENST00000357872.4:c.2422G>A	5.37:g.115350196G>A	ENSP00000350541:p.Ala808Thr					AQPEP_ENST00000515454.1_3'UTR	p.A808T	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			16	2546	+			808					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2422G>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	g	0.891	-0.725645	0.03158	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05925	3.37	5.37	-7.43	0.01383	.	1.445800	0.04180	N	0.326358	T	0.02193	0.0068	N	0.04018	-0.295	0.44694	D	0.997687	B	0.23249	0.082	B	0.09377	0.004	T	0.41016	-0.9532	10	0.25106	T	0.35	.	2.6631	0.05032	0.4244:0.3273:0.1416:0.1066	.	808	Q6Q4G3	AMPQ_HUMAN	T	808;797	ENSP00000350541:A808T	ENSP00000350541:A808T	A	+	1	0	AC010282.1	115378095	0.010000	0.17322	0.046000	0.18839	0.005000	0.04900	-0.215000	0.09279	-1.017000	0.03367	-2.424000	0.00217	GCA		0.363	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			30	38	0	0	0	1	0	30	38				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452847	100452847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452847C>T	ENST00000279907.7	-	14	2420	c.2208G>A	c.(2206-2208)gaG>gaA	p.E736E	UHRF1BP1L_ENST00000545232.2_Silent_p.E386E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	736										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTTTGTGACTCTGCATATC	0.408																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2206-2208)gaG>gaA		UHRF1 binding protein 1-like							92.0	97.0	96.0					12																	100452847		2202	4298	6500	SO:0001819	synonymous_variant	23074							g.chr12:100452847C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2208G>A	12.37:g.100452847C>T						UHRF1BP1L_ENST00000545232.2_Silent_p.E386E	p.E736E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2420	-			736					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2208G>A	CCDS31882.1																																																																																				0.408	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		41	72	0	0	0	1	0	41	72				
PAAF1	80227	broad.mit.edu	37	11	73611337	73611337	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73611337T>C	ENST00000310571.3	+	6	457	c.404T>C	c.(403-405)tTt>tCt	p.F135S	PAAF1_ENST00000536003.1_Missense_Mutation_p.F118S|PAAF1_ENST00000544909.1_Missense_Mutation_p.F136S|PAAF1_ENST00000376384.5_Missense_Mutation_p.F118S|PAAF1_ENST00000543079.1_Intron|PAAF1_ENST00000541951.1_Missense_Mutation_p.F20S|PAAF1_ENST00000535604.1_Missense_Mutation_p.F20S|PAAF1_ENST00000544552.1_Missense_Mutation_p.F118S	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	135					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GGACATGTGTTTGATGTGAAT	0.463																																						ENST00000544909.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(406-408)tTt>tCt		proteasomal ATPase-associated factor 1							251.0	228.0	236.0					11																	73611337		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73611337T>C	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.404T>C	11.37:g.73611337T>C	ENSP00000311665:p.Phe135Ser					PAAF1_ENST00000310571.3_Missense_Mutation_p.F135S|PAAF1_ENST00000544552.1_Missense_Mutation_p.F118S|PAAF1_ENST00000376384.5_Missense_Mutation_p.F118S|PAAF1_ENST00000543079.1_Intron|PAAF1_ENST00000541951.1_Missense_Mutation_p.F20S|PAAF1_ENST00000536003.1_Missense_Mutation_p.F118S|PAAF1_ENST00000535604.1_Missense_Mutation_p.F20S	p.F136S			Q9BRP4	PAAF1_HUMAN			4	664	+	Breast(11;7.42e-05)		135					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.407T>C	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.561536	0.27915	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.75	4.59	0.56863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.358919	0.27227	N	0.020322	T	0.14184	0.0343	N	0.00107	-2.115	0.27596	N	0.949126	B;B	0.22909	0.062;0.077	B;B	0.27076	0.076;0.038	T	0.19745	-1.0296	10	0.18276	T	0.48	-4.8498	6.0987	0.20035	0.2543:0.0:0.1432:0.6026	.	118;135	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	S	20;135;118;118;20;20;118;118;118;113;136	ENSP00000441333:F20S;ENSP00000311665:F135S;ENSP00000439747:F118S;ENSP00000438894:F118S;ENSP00000438789:F20S;ENSP00000439143:F20S;ENSP00000438124:F118S;ENSP00000441494:F118S;ENSP00000365564:F118S;ENSP00000443473:F113S;ENSP00000438071:F136S	ENSP00000311665:F135S	F	+	2	0	PAAF1	73288985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.895000	0.39778	0.949000	0.37715	0.528000	0.53228	TTT		0.463	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		79	110	0	0	0	1	0	79	110				
UCK1	83549	broad.mit.edu	37	9	134404364	134404364	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404364G>A	ENST00000372215.4	-	5	663	c.570C>T	c.(568-570)ttC>ttT	p.F190F	UCK1_ENST00000372211.3_Silent_p.F195F|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372210.3_Silent_p.F181F	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	190					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CCGGCTTCACGAAGGTGGTGT	0.612																																					Melanoma(42;523 1129 28385 43975 48113)	ENST00000372215.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(568-570)ttC>ttT		uridine-cytidine kinase 1							91.0	67.0	75.0					9																	134404364		2203	4300	6503	SO:0001819	synonymous_variant	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134404364G>A	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.570C>T	9.37:g.134404364G>A						UCK1_ENST00000372210.3_Silent_p.F181F|UCK1_ENST00000372211.3_Silent_p.F195F|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Intron	p.F190F	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	5	663	-			190					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Silent	SNP	ENST00000372215.4	37	c.570C>T	CCDS6944.1																																																																																				0.612	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		8	13	0	0	0	1	0	8	13				
MGA	23269	broad.mit.edu	37	15	42042740	42042740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042740C>T	ENST00000570161.1	+	16	6935	c.6935C>T	c.(6934-6936)aCt>aTt	p.T2312I	MGA_ENST00000566586.1_Missense_Mutation_p.T2103I|MGA_ENST00000545763.1_Missense_Mutation_p.T2103I|MGA_ENST00000219905.7_Missense_Mutation_p.T2312I|MGA_ENST00000389936.4_Missense_Mutation_p.T2273I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATGAGAAAACTGATGATTCT	0.403																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6934-6936)aCt>aTt		MGA, MAX dimerization protein							130.0	117.0	121.0					15																	42042740		1908	4129	6037	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042740C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6935C>T	15.37:g.42042740C>T	ENSP00000457035:p.Thr2312Ile					MGA_ENST00000389936.4_Missense_Mutation_p.T2273I|MGA_ENST00000566586.1_Missense_Mutation_p.T2103I|MGA_ENST00000570161.1_Missense_Mutation_p.T2312I|MGA_ENST00000545763.1_Missense_Mutation_p.T2103I	p.T2312I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	7116	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2273					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.6935C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860272	0.51482	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.87809	-2.28;-2.26;-2.3	5.11	5.11	0.69529	.	0.546092	0.16509	N	0.211337	D	0.89396	0.6703	L	0.27053	0.805	0.24587	N	0.993846	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.85130	0.994;0.997;0.991;0.991	T	0.82965	-0.0195	10	0.66056	D	0.02	.	15.3917	0.74751	0.0:1.0:0.0:0.0	.	928;2103;2312;2273	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	I	2312;2273;2103	ENSP00000219905:T2312I;ENSP00000374586:T2273I;ENSP00000442467:T2103I	ENSP00000219905:T2312I	T	+	2	0	MGA	39830032	0.999000	0.42202	1.000000	0.80357	0.840000	0.47671	4.819000	0.62664	2.651000	0.90000	0.591000	0.81541	ACT		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	11	0	0	0	1	0	5	11				
SCN1A	6323	broad.mit.edu	37	2	166911241	166911241	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166911241A>G	ENST00000303395.4	-	4	508	c.509T>C	c.(508-510)cTt>cCt	p.L170P	SCN1A_ENST00000409050.1_Missense_Mutation_p.L170P|SCN1A_ENST00000375405.3_Missense_Mutation_p.L170P|SCN1A_ENST00000423058.2_Missense_Mutation_p.L170P|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	170					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTTTTATAAGTGATTCAAA	0.328																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(508-510)cTt>cCt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						48.0	52.0	50.0					2																	166911241		2203	4298	6501	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166911241A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.509T>C	2.37:g.166911241A>G	ENSP00000303540:p.Leu170Pro					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L170P|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L170P|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L170P	p.L170P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			4	526	-			170					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.509T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370900	0.82573	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.56097	D	0.000027	D	0.99468	0.9811	H	0.97440	4.005	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.83275	0.972;0.984;0.996	D	0.98158	1.0445	10	0.87932	D	0	.	15.4223	0.75022	1.0:0.0:0.0:0.0	.	170;170;170	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	P	170	ENSP00000407030:L170P;ENSP00000303540:L170P;ENSP00000364554:L170P;ENSP00000386312:L170P	ENSP00000303540:L170P	L	-	2	0	SCN1A	166619487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.226000	0.95229	2.099000	0.63709	0.459000	0.35465	CTT		0.328	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		3	38	0	0	0	1	0	3	38				
METTL21A	151194	broad.mit.edu	37	2	208477941	208477941	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208477941G>T	ENST00000411432.1	-	4	702	c.486C>A	c.(484-486)ctC>ctA	p.L162L	METTL21A_ENST00000426075.1_Silent_p.L162L|METTL21A_ENST00000448007.2_Silent_p.L162L|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000272839.3_Silent_p.L180L|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000406927.2_Silent_p.L162L|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000442521.1_Silent_p.L162L	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	162					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GATTGCTACAGAGATGTTCCA	0.403																																						ENST00000411432.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						c.(484-486)ctC>ctA		methyltransferase like 21A							139.0	140.0	140.0					2																	208477941		2203	4300	6503	SO:0001819	synonymous_variant	151194					integral to membrane	methyltransferase activity	g.chr2:208477941G>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.486C>A	2.37:g.208477941G>T						METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000442521.1_Silent_p.L162L|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000426075.1_Silent_p.L162L|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000448007.2_Silent_p.L162L|METTL21A_ENST00000406927.2_Silent_p.L162L|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000272839.3_Silent_p.L180L	p.L162L	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN			4	702	-			162					Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	c.486C>A	CCDS2376.1																																																																																				0.403	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		9	114	1	0	3.86212e-05	1	4.30401e-05	9	114				
KLF6	1316	broad.mit.edu	37	10	3821778	3821778	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:3821778A>C	ENST00000497571.1	-	4	1065	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	KLF6_ENST00000542957.1_Silent_p.V227V|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	269					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACCTGGAAAAACACCTGCAA	0.582																																						ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(805-807)Ttt>Gtt		Kruppel-like factor 6							124.0	112.0	116.0					10																	3821778		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3821778A>C	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.805T>G	10.37:g.3821778A>C	ENSP00000419923:p.Phe269Val					KLF6_ENST00000542957.1_Silent_p.V227V|KLF6_ENST00000173785.4_5'UTR	p.F269V	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	4	1065	-			269					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.805T>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145032	0.77888	.	.	ENSG00000067082	ENST00000497571	D	0.83755	-1.76	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.050090	0.85682	D	0.000000	D	0.93090	0.7800	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.94587	0.7784	10	0.66056	D	0.02	.	14.6621	0.68879	1.0:0.0:0.0:0.0	.	227;269	D3GC14;Q99612	.;KLF6_HUMAN	V	269	ENSP00000419923:F269V	ENSP00000419923:F269V	F	-	1	0	KLF6	3811778	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.146000	0.94640	2.110000	0.64415	0.459000	0.35465	TTT		0.582	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			8	13	0	0	0	1	0	8	13				
LOC440040	440040	broad.mit.edu	37	11	49831886	49831886	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49831886G>T	ENST00000527477.1	+	0	2111																											AGGACAAATAGGTTCTGTTTT	0.333																																						ENST00000527477.1																			0																																																			0							g.chr11:49831886G>T																													11.37:g.49831886G>T														0	2111	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.333	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			8	68	1	0	5.18039e-06	1	5.91835e-06	8	68				
AKAP2	11217	broad.mit.edu	37	9	112899207	112899207	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899207C>T	ENST00000259318.7	+	2	897	c.690C>T	c.(688-690)gcC>gcT	p.A230A	AKAP2_ENST00000434623.2_Silent_p.A319A|AKAP2_ENST00000374525.1_Silent_p.A319A|AKAP2_ENST00000555236.1_Silent_p.A461A|PALM2-AKAP2_ENST00000374530.3_Silent_p.A461A|AKAP2_ENST00000510514.5_Silent_p.A461A|PALM2-AKAP2_ENST00000302798.7_Silent_p.A461A	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	230										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GCAGCCAGGCCGTCAAGAAGA	0.512																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1381-1383)gcC>gcT									65.0	66.0	66.0					9																	112899207		2203	4300	6503	SO:0001819	synonymous_variant	0						enzyme binding	g.chr9:112899207C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.690C>T	9.37:g.112899207C>T						PALM2-AKAP2_ENST00000302798.7_Silent_p.A461A|AKAP2_ENST00000259318.7_Silent_p.A230A|AKAP2_ENST00000510514.5_Silent_p.A461A|AKAP2_ENST00000434623.2_Silent_p.A319A|AKAP2_ENST00000374525.1_Silent_p.A319A|AKAP2_ENST00000555236.1_Silent_p.A461A	p.A461A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1563	+			230					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.1383C>T	CCDS48003.1																																																																																				0.512	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		12	32	0	0	0	1	0	12	32				
TGFB2	7042	broad.mit.edu	37	1	218609474	218609474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:218609474C>T	ENST00000366930.4	+	5	1384	c.917C>T	c.(916-918)gCg>gTg	p.A306V	TGFB2_ENST00000366929.4_Missense_Mutation_p.A334V|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTGGATGCGGCCTATTGC	0.438																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1000-1002)gCg>gTg		transforming growth factor, beta 2							79.0	75.0	77.0					1																	218609474		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218609474C>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.917C>T	1.37:g.218609474C>T	ENSP00000355897:p.Ala306Val					TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Missense_Mutation_p.A306V	p.A334V	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	6	1468	+			306					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.1001C>T	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224131	0.58668	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.74842	-0.79;-0.88	6.17	5.26	0.73747	Transforming growth factor-beta, C-terminal (1);	0.097040	0.64402	D	0.000001	T	0.57504	0.2058	N	0.19112	0.55	0.80722	D	1	D;B	0.55605	0.972;0.413	B;B	0.33690	0.168;0.005	T	0.63866	-0.6540	10	0.48119	T	0.1	.	17.0009	0.86381	0.1285:0.8715:0.0:0.0	.	334;306	P61812-2;P61812	.;TGFB2_HUMAN	V	306;334	ENSP00000355897:A306V;ENSP00000355896:A334V	ENSP00000355896:A334V	A	+	2	0	TGFB2	216676097	1.000000	0.71417	0.770000	0.31555	0.617000	0.37484	5.729000	0.68538	1.606000	0.50161	-0.182000	0.12963	GCG		0.438	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		39	37	0	0	0	1	0	39	37				
CASKIN1	57524	broad.mit.edu	37	16	2231312	2231312	+	Missense_Mutation	SNP	G	G	A	rs369066078		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2231312G>A	ENST00000343516.6	-	18	2149	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	686					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCCCTCGGGGTGGGTGG	0.711																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(2056-2058)cCg>cTg		CASK interacting protein 1		G	LEU/PRO	2,3962		0,2,1980	13.0	17.0	16.0		2057	4.4	0.8	16		16	0,8264		0,0,4132	no	missense	CASKIN1	NM_020764.3	98	0,2,6112	AA,AG,GG		0.0,0.0505,0.0164	probably-damaging	686/1432	2231312	2,12226	1982	4132	6114	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2231312G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2057C>T	16.37:g.2231312G>A	ENSP00000345436:p.Pro686Leu						p.P686L	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			18	2149	-			686					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.2057C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422198	0.25639	5.05E-4	0.0	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.64991	-0.13	4.36	4.36	0.52297	.	.	.	.	.	T	0.49847	0.1581	L	0.51422	1.61	0.48762	D	0.9997	P	0.48640	0.913	B	0.34038	0.174	T	0.59386	-0.7464	9	0.66056	D	0.02	-7.4127	10.9359	0.47245	0.0:0.0:0.8124:0.1876	.	686	Q8WXD9	CSKI1_HUMAN	L	686;515	ENSP00000345436:P686L	ENSP00000345436:P686L	P	-	2	0	CASKIN1	2171313	1.000000	0.71417	0.824000	0.32777	0.442000	0.32017	6.197000	0.72100	2.255000	0.74692	0.555000	0.69702	CCG		0.711	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		6	1	0	0	0	1	0	6	1				
TEAD1	7003	broad.mit.edu	37	11	12923629	12923629	+	Missense_Mutation	SNP	C	C	A	rs572994445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923629C>A	ENST00000526600.1	+	5	777	c.554C>A	c.(553-555)cCt>cAt	p.P185H	TEAD1_ENST00000334310.6_Intron|SCARNA16_ENST00000516520.1_RNA|TEAD1_ENST00000361985.2_Missense_Mutation_p.P281H|TEAD1_ENST00000361905.4_Missense_Mutation_p.P266H|TEAD1_ENST00000527636.1_Missense_Mutation_p.P281H|TEAD1_ENST00000527575.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	281	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAAGGGCCCTCAAAATGCC	0.413																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(796-798)cCt>cAt		TEA domain family member 1 (SV40 transcriptional enhancer factor)							194.0	186.0	189.0					11																	12923629		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12923629C>A	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.554C>A	11.37:g.12923629C>A	ENSP00000435393:p.Pro185His					TEAD1_ENST00000526600.1_Missense_Mutation_p.P185H|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Missense_Mutation_p.P281H|TEAD1_ENST00000361985.2_Missense_Mutation_p.P281H	p.P266H	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	10	1462	+			281			Transcriptional activation (Potential).		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.797C>A		.	.	.	.	.	.	.	.	.	.	C	33	5.243925	0.95272	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000361985;ENST00000526600	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	6.17	6.17	0.99709	.	0.047394	0.85682	D	0.000000	D	0.89012	0.6594	M	0.93283	3.4	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.75020	0.965;0.985	D	0.90402	0.4403	10	0.87932	D	0	0.353	20.4745	0.99168	0.0:1.0:0.0:0.0	.	185;281	E9PKB7;P28347	.;TEAD1_HUMAN	H	266;281;281;185	ENSP00000355332:P266H;ENSP00000435233:P281H;ENSP00000354588:P281H;ENSP00000435393:P185H	ENSP00000355332:P266H	P	+	2	0	TEAD1	12880205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	CCT		0.413	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		16	213	1	0	3.52763e-06	1	4.04633e-06	16	213				
NRXN1	9378	broad.mit.edu	37	2	51254960	51254960	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254960C>A	ENST00000406316.2	-	2	1928	c.452G>T	c.(451-453)aGc>aTc	p.S151I	NRXN1_ENST00000405472.3_Missense_Mutation_p.S151I|NRXN1_ENST00000404971.1_Missense_Mutation_p.S151I|NRXN1_ENST00000406859.3_Missense_Mutation_p.S151I|NRXN1_ENST00000405581.1_Missense_Mutation_p.S151I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S151I|NRXN1_ENST00000402717.3_Missense_Mutation_p.S151I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	151	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAAGGCCGCTGAACACCGT	0.672																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(451-453)aGc>aTc		neurexin 1							26.0	32.0	30.0					2																	51254960		2130	4243	6373	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254960C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.452G>T	2.37:g.51254960C>A	ENSP00000384311:p.Ser151Ile					NRXN1_ENST00000402717.3_Missense_Mutation_p.S151I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S151I|NRXN1_ENST00000406859.3_Missense_Mutation_p.S151I|NRXN1_ENST00000405472.3_Missense_Mutation_p.S151I|NRXN1_ENST00000406316.2_Missense_Mutation_p.S151I|NRXN1_ENST00000405581.1_Missense_Mutation_p.S151I	p.S151I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1791	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	151			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.452G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538152	0.85917	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.45361	U	0.000369	D	0.91379	0.7280	M	0.88310	2.945	0.53688	D	0.999976	D;D;P	0.89917	1.0;0.999;0.667	D;D;P	0.97110	1.0;0.999;0.474	D	0.92736	0.6204	10	0.59425	D	0.04	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	151;151;151	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	I	151	ENSP00000385142:S151I;ENSP00000384311:S151I;ENSP00000434015:S151I;ENSP00000385017:S151I;ENSP00000385434:S151I;ENSP00000385681:S151I;ENSP00000385310:S151I	ENSP00000385017:S151I	S	-	2	0	NRXN1	51108464	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.704000	0.84595	2.293000	0.77203	0.563000	0.77884	AGC		0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	16	1	0	1	1	1	4	16				
ATP8B1	5205	broad.mit.edu	37	18	55362715	55362715	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55362715G>T	ENST00000283684.4	-	8	747	c.748C>A	c.(748-750)Ctc>Atc	p.L250I	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'Flank|ATP8B1_ENST00000536015.1_Missense_Mutation_p.L250I|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	250					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCTCTTTGGAGGTACTGGTCT	0.299																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(748-750)Ctc>Atc		ATPase, aminophospholipid transporter, class I, type 8B, member 1							141.0	132.0	135.0					18																	55362715		2203	4299	6502	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55362715G>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.748C>A	18.37:g.55362715G>T	ENSP00000283684:p.Leu250Ile					RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.L250I	p.L250I	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			9	867	-		Colorectal(73;0.229)	250					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.748C>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833225	0.71258	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.77489	-1.1;-1.1	6.11	6.11	0.99139	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	L	0.39566	1.225	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	T	0.77341	-0.2624	10	0.17832	T	0.49	.	20.3293	0.98710	0.0:0.0:1.0:0.0	.	250	O43520	AT8B1_HUMAN	I	250	ENSP00000283684:L250I;ENSP00000445359:L250I	ENSP00000283684:L250I	L	-	1	0	ATP8B1	53513713	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	5.336000	0.65935	2.906000	0.99361	0.655000	0.94253	CTC		0.299	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		4	66	1	0	5.9392e-07	1	6.91975e-07	4	66				
ELL	8178	broad.mit.edu	37	19	18555662	18555662	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18555662C>A	ENST00000262809.4	-	12	1837	c.1766G>T	c.(1765-1767)aGc>aTc	p.S589I	ELL_ENST00000596124.3_Missense_Mutation_p.S456I|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	589					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTTCTCCTGGCTGTAGTTGGT	0.632			T	MLL	AL																																	ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(1765-1767)aGc>aTc		elongation factor RNA polymerase II							115.0	91.0	99.0					19																	18555662		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18555662C>A	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1766G>T	19.37:g.18555662C>A	ENSP00000262809:p.Ser589Ile						p.S589I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	12	1837	-			589						Missense_Mutation	SNP	ENST00000262809.4	37	c.1766G>T	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023285	0.75275	.	.	ENSG00000105656	ENST00000262809	T	0.21191	2.02	4.87	3.81	0.43845	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.31664	0.95	0.58432	D	0.999999	D;D	0.76494	0.994;0.999	D;D	0.70716	0.916;0.97	T	0.01578	-1.1320	10	0.31617	T	0.26	-28.0988	11.1374	0.48383	0.0:0.9037:0.0:0.0963	.	533;589	Q59HG4;P55199	.;ELL_HUMAN	I	589	ENSP00000262809:S589I	ENSP00000262809:S589I	S	-	2	0	ELL	18416662	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.928000	0.48908	0.990000	0.38787	0.466000	0.42574	AGC		0.632	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		5	42	1	0	0.014758	1	0.0152625	5	42				
DSG2	1829	broad.mit.edu	37	18	29104816	29104816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29104816G>A	ENST00000261590.8	+	8	1188	c.979G>A	c.(979-981)Gct>Act	p.A327T		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAACAGATGCTCAAACTAA	0.368																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(979-981)Gct>Act		desmoglein 2							94.0	88.0	90.0					18																	29104816		1868	4103	5971	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29104816G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.979G>A	18.37:g.29104816G>A	ENSP00000261590:p.Ala327Thr						p.A327T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		8	1188	+			327			Cadherin 3.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.979G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	1.586	-0.530351	0.04112	.	.	ENSG00000046604	ENST00000261590	T	0.42131	0.98	5.44	-4.62	0.03370	Cadherin (4);Cadherin-like (1);	0.974275	0.08463	N	0.942153	T	0.18173	0.0436	N	0.04373	-0.215	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.26815	-1.0092	10	0.27785	T	0.31	.	9.2688	0.37659	0.6373:0.0:0.2366:0.1261	.	327	Q14126	DSG2_HUMAN	T	327	ENSP00000261590:A327T	ENSP00000261590:A327T	A	+	1	0	DSG2	27358814	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-2.400000	0.01049	-0.687000	0.05162	-0.781000	0.03364	GCT		0.368	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		20	36	0	0	0	1	0	20	36				
MRE11A	4361	broad.mit.edu	37	11	94200986	94200986	+	Missense_Mutation	SNP	C	C	T	rs140528613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94200986C>T	ENST00000323929.3	-	10	1313	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	MRE11A_ENST00000407439.3_Missense_Mutation_p.R367Q|MRE11A_ENST00000323977.3_Missense_Mutation_p.R364Q|MIR548L_ENST00000408303.1_RNA|MRE11A_ENST00000393241.4_Missense_Mutation_p.R364Q	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	364					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TACTCGCAGTCGTACAAGAGG	0.328								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1090-1092)cGa>cAa	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							75.0	79.0	78.0					11																	94200986		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94200986C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1091G>A	11.37:g.94200986C>T	ENSP00000325863:p.Arg364Gln					MRE11A_ENST00000323977.3_Missense_Mutation_p.R364Q|MRE11A_ENST00000407439.3_Missense_Mutation_p.R367Q|MRE11A_ENST00000393241.4_Missense_Mutation_p.R364Q	p.R364Q	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			10	1313	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	364					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1091G>A	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690130	0.96793	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	6.06	6.06	0.98353	Mre11, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71184	0.972;0.964;0.956	D	0.96325	0.9239	10	0.87932	D	0	-11.4255	20.6208	0.99490	0.0:1.0:0.0:0.0	.	367;364;364	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	Q	364;367;364;364	ENSP00000325863:R364Q;ENSP00000385614:R367Q;ENSP00000326094:R364Q;ENSP00000376933:R364Q	ENSP00000325863:R364Q	R	-	2	0	MRE11A	93840634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.556000	0.82233	2.882000	0.98803	0.655000	0.94253	CGA		0.328	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		32	36	0	0	0	1	0	32	36				
RB1CC1	9821	broad.mit.edu	37	8	53586799	53586799	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53586799G>T	ENST00000025008.5	-	7	1131	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P203Q|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P203Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	203					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCCAACAGTGGAATCTTGGC	0.373																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(607-609)cCa>cAa		RB1-inducible coiled-coil 1							139.0	132.0	134.0					8																	53586799		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586799G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.608C>A	8.37:g.53586799G>T	ENSP00000025008:p.Pro203Gln					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P203Q|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P203Q	p.P203Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			7	1131	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	203					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.608C>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333406	0.81801	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.61742	0.09;0.08;0.08	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81446	-0.0929	10	0.87932	D	0	-14.6337	19.0389	0.92991	0.0:0.0:1.0:0.0	.	203;203	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	Q	203	ENSP00000025008:P203Q;ENSP00000396067:P203Q;ENSP00000445960:P203Q	ENSP00000025008:P203Q	P	-	2	0	RB1CC1	53749352	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.302000	0.96175	2.663000	0.90544	0.467000	0.42956	CCA		0.373	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		14	140	1	0	2.32078e-09	1	2.82054e-09	14	140				
OR6M1	390261	broad.mit.edu	37	11	123676598	123676598	+	Missense_Mutation	SNP	C	C	T	rs532527432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123676598C>T	ENST00000309154.2	-	1	497	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGAAACAACACAGACAGGAAG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19615	0.0		0.0	False		,,,				2504	0.001					ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(460-462)Gtg>Atg		olfactory receptor, family 6, subfamily M, member 1							54.0	56.0	55.0					11																	123676598		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676598C>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.460G>A	11.37:g.123676598C>T	ENSP00000311038:p.Val154Met						p.V154M	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	497	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	154					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.460G>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256455	0.22965	.	.	ENSG00000196099	ENST00000309154	T	0.37584	1.19	3.58	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30473	U	0.009542	T	0.33789	0.0875	L	0.33624	1.015	0.09310	N	1	P	0.42123	0.771	P	0.48488	0.579	T	0.11372	-1.0590	10	0.66056	D	0.02	.	8.4494	0.32862	0.0:0.8807:0.0:0.1193	.	154	Q8NGM8	OR6M1_HUMAN	M	154	ENSP00000311038:V154M	ENSP00000311038:V154M	V	-	1	0	OR6M1	123181808	0.000000	0.05858	0.016000	0.15963	0.383000	0.30230	-0.121000	0.10643	0.689000	0.31550	0.655000	0.94253	GTG		0.498	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		4	43	0	0	0	1	0	4	43				
CECR1	51816	broad.mit.edu	37	22	17670843	17670843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17670843C>A	ENST00000399839.1	-	6	1231	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W	CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Missense_Mutation_p.G321W|CECR1_ENST00000449907.2_Missense_Mutation_p.G279W|CECR1_ENST00000262607.3_Missense_Mutation_p.G321W|CECR1_ENST00000330232.4_Missense_Mutation_p.G80W	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	321					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGGTCAAACCCTGCCACCACC	0.577																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(961-963)Ggg>Tgg		cat eye syndrome chromosome region, candidate 1							139.0	107.0	118.0					22																	17670843		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17670843C>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.961G>T	22.37:g.17670843C>A	ENSP00000382733:p.Gly321Trp					CECR1_ENST00000262607.3_Missense_Mutation_p.G321W|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000330232.4_Missense_Mutation_p.G80W|CECR1_ENST00000449907.2_Missense_Mutation_p.G279W|CECR1_ENST00000399837.2_Missense_Mutation_p.G321W	p.G321W			Q9NZK5	CECR1_HUMAN			6	1231	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	321					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.961G>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485123	0.63962	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	4.14	4.14	0.48551	Adenosine/AMP deaminase (1);	0.104089	0.64402	D	0.000003	D	0.96128	0.8738	H	0.96080	3.765	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97518	1.0071	10	0.87932	D	0	.	15.0242	0.71656	0.0:1.0:0.0:0.0	.	321;80	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	W	321;80;321;279;321	ENSP00000382733:G321W;ENSP00000332871:G80W;ENSP00000262607:G321W;ENSP00000406443:G279W;ENSP00000382731:G321W	ENSP00000262607:G321W	G	-	1	0	CECR1	16050843	0.996000	0.38824	0.897000	0.35233	0.449000	0.32228	5.592000	0.67543	2.038000	0.60285	0.555000	0.69702	GGG		0.577	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			19	23	1	0	8.34094e-07	1	9.69005e-07	19	23				
FUT11	170384	broad.mit.edu	37	10	75533510	75533510	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75533510A>G	ENST00000372841.3	+	2	1314	c.1271A>G	c.(1270-1272)cAc>cGc	p.H424R	AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000394790.1_Missense_Mutation_p.H424R|FUT11_ENST00000465695.1_3'UTR|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	424					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CAGCCCTCACACATGGACTGC	0.592																																						ENST00000372841.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(1270-1272)cAc>cGc		fucosyltransferase 11 (alpha (1,3) fucosyltransferase)							70.0	73.0	72.0					10																	75533510		2203	4300	6503	SO:0001583	missense	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75533510A>G	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1271A>G	10.37:g.75533510A>G	ENSP00000361932:p.His424Arg					FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.H424R	p.H424R	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN			2	1314	+	Prostate(51;0.0112)		424					Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	37	c.1271A>G	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807430	0.90623	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.61742	0.08;0.87	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	T	0.80011	-0.1561	10	0.72032	D	0.01	-25.2831	15.9259	0.79615	1.0:0.0:0.0:0.0	.	424;424	Q495W5;Q495W5-2	FUT11_HUMAN;.	R	424	ENSP00000361932:H424R;ENSP00000378270:H424R	ENSP00000361932:H424R	H	+	2	0	FUT11	75203516	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.108000	0.94275	2.161000	0.67846	0.460000	0.39030	CAC		0.592	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		3	69	0	0	0	1	0	3	69				
MAST1	22983	broad.mit.edu	37	19	12963039	12963039	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12963039C>A	ENST00000251472.4	+	9	1026	c.987C>A	c.(985-987)ggC>ggA	p.G329G	MAST1_ENST00000591495.1_Silent_p.G325G	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCAGCTGGGCCTCACCCGTG	0.672																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(985-987)ggC>ggA		microtubule associated serine/threonine kinase 1							53.0	57.0	56.0					19																	12963039		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12963039C>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.987C>A	19.37:g.12963039C>A						MAST1_ENST00000591495.1_Silent_p.G325G	p.G329G	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			9	1026	+			329						Silent	SNP	ENST00000251472.4	37	c.987C>A	CCDS32921.1																																																																																				0.672	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		24	39	1	0	2.21704e-12	1	2.7869e-12	24	39				
SYT3	84258	broad.mit.edu	37	19	51132654	51132654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51132654G>A	ENST00000338916.4	-	4	1811	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	SYT3_ENST00000600079.1_Missense_Mutation_p.S393L|SYT3_ENST00000544769.1_Missense_Mutation_p.S393L|SYT3_ENST00000593901.1_Missense_Mutation_p.S393L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	393	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTGCCGCGAGAAGCGGTC	0.637																																						ENST00000338916.4																			1	Substitution - Missense(1)	p.S393L(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1177-1179)tCg>tTg		synaptotagmin III							68.0	70.0	69.0					19																	51132654		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51132654G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1178C>T	19.37:g.51132654G>A	ENSP00000340914:p.Ser393Leu					SYT3_ENST00000544769.1_Missense_Mutation_p.S393L|SYT3_ENST00000593901.1_Missense_Mutation_p.S393L|SYT3_ENST00000600079.1_Missense_Mutation_p.S393L	p.S393L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	4	1811	-		all_neural(266;0.131)	393			C2 1.		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1178C>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942068	0.92526	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.09723	2.95;2.95	4.33	4.33	0.51752	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	U	0.000018	T	0.29491	0.0735	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.05500	-1.0881	10	0.87932	D	0	.	15.9634	0.79948	0.0:0.0:1.0:0.0	.	393	Q9BQG1	SYT3_HUMAN	L	393	ENSP00000340914:S393L;ENSP00000438883:S393L	ENSP00000340914:S393L	S	-	2	0	SYT3	55824466	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.658000	0.83755	2.126000	0.65437	0.655000	0.94253	TCG		0.637	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		10	19	0	0	0	1	0	10	19				
FCAMR	83953	broad.mit.edu	37	1	207131913	207131913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207131913G>T	ENST00000324852.4	-	8	2156	c.1682C>A	c.(1681-1683)tCt>tAt	p.S561Y	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000486178.1_5'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	516					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCAGGAAGAGAGTCATCCTG	0.527																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(1681-1683)tCt>tAt		Fc receptor, IgA, IgM, high affinity							97.0	89.0	92.0					1																	207131913		692	1591	2283	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207131913G>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1682C>A	1.37:g.207131913G>T	ENSP00000316491:p.Ser561Tyr					FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR	p.S561Y	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			8	2156	-			516					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.1682C>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686876	0.48097	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.05855	3.38	4.41	2.01	0.26516	.	0.745300	0.11072	N	0.602748	T	0.09158	0.0226	L	0.36672	1.1	0.09310	N	1	D;D	0.61080	0.989;0.978	P;P	0.53809	0.735;0.598	T	0.29671	-1.0004	10	0.49607	T	0.09	1.3138	4.3678	0.11233	0.171:0.2086:0.6204:0.0	.	536;516	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	Y	561;519	ENSP00000316491:S561Y	ENSP00000316491:S561Y	S	-	2	0	FCAMR	205198536	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.682000	0.25335	0.359000	0.24239	0.561000	0.74099	TCT		0.527	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		8	98	1	0	0.00448238	1	0.00472561	8	98				
CNTN3	5067	broad.mit.edu	37	3	74316426	74316426	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74316426T>C	ENST00000263665.6	-	20	2835	c.2808A>G	c.(2806-2808)acA>acG	p.T936T	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	936	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTATATCCTGTTACTTCTG	0.358																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2806-2808)acA>acG		contactin 3 (plasmacytoma associated)							152.0	147.0	149.0					3																	74316426		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74316426T>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2808A>G	3.37:g.74316426T>C						CNTN3_ENST00000477856.1_5'UTR	p.T936T	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	20	2835	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	936			Fibronectin type-III 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2808A>G	CCDS33790.1																																																																																				0.358	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		6	92	0	0	0	1	0	6	92				
SOX7	83595	broad.mit.edu	37	8	10583614	10583614	+	Silent	SNP	G	G	A	rs201998586	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583614G>A	ENST00000304501.1	-	2	879	c.801C>T	c.(799-801)ggC>ggT	p.G267G	SOX7_ENST00000554914.1_Silent_p.G319G|SOX7_ENST00000553390.1_Silent_p.G319G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	267					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCATGGAGACGCCGGGGGACT	0.677																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(799-801)ggC>ggT		SRY (sex determining region Y)-box 7							23.0	30.0	28.0					8																	10583614		2193	4291	6484	SO:0001819	synonymous_variant	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583614G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.801C>T	8.37:g.10583614G>A						SOX7_ENST00000553390.1_Silent_p.G319G|SOX7_ENST00000554914.1_Silent_p.G319G	p.G267G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	879	-			267					B4DKV0|Q53YD0	Silent	SNP	ENST00000304501.1	37	c.801C>T	CCDS5977.1																																																																																				0.677	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			19	19	0	0	0	1	0	19	19				
TTC4	7268	broad.mit.edu	37	1	55182370	55182370	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55182370A>T	ENST00000371281.3	+	2	296	c.209A>T	c.(208-210)gAt>gTt	p.D70V	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.M1306L	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	70										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						ATTATTTTTGATGAGGAGCGT	0.398																																						ENST00000414150.2																			0											c.(3916-3918)Atg>Ttg		maestro heat-like repeat family member 7							93.0	89.0	90.0					1																	55182370		2202	4300	6502	SO:0001583	missense	374977							g.chr1:55182370A>T		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.209A>T	1.37:g.55182370A>T	ENSP00000360329:p.Asp70Val					TTC4_ENST00000371284.5_3'UTR|TTC4_ENST00000371281.3_Missense_Mutation_p.D70V	p.M1306L							25	4194	+								Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.3916A>T	CCDS596.1	.	.	.	.	.	.	.	.	.	.	A	31	5.074436	0.94000	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.19250	2.16	4.68	4.68	0.58851	.	.	.	.	.	T	0.42698	0.1214	M	0.80982	2.52	0.80722	D	1	D;D	0.59767	0.96;0.986	P;P	0.58454	0.723;0.839	T	0.47045	-0.9147	9	0.87932	D	0	-10.8658	12.4005	0.55410	1.0:0.0:0.0:0.0	.	70;81	O95801;Q5TA95	TTC4_HUMAN;.	V	70;81	ENSP00000360329:D70V	ENSP00000360329:D70V	D	+	2	0	TTC4	54954958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.105000	0.64084	0.533000	0.62120	GAT		0.398	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		16	25	0	0	0	1	0	16	25				
ATG2A	23130	broad.mit.edu	37	11	64664287	64664287	+	Silent	SNP	G	G	A	rs180755321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64664287G>A	ENST00000377264.3	-	38	5317	c.5205C>T	c.(5203-5205)gaC>gaT	p.D1735D	ATG2A_ENST00000421419.2_Silent_p.D1737D	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTTGCGGATGTCCTGCAGCC	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0	0.0	5008	,	,		17180	0.001		0.0	False		,,,				2504	0.0					ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(5209-5211)gaC>gaT		autophagy related 2A							53.0	53.0	53.0					11																	64664287		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64664287G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5205C>T	11.37:g.64664287G>A			OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_ENST00000377264.3_Silent_p.D1735D	p.D1737D			Q2TAZ0	ATG2A_HUMAN			38	5325	-			1735					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.5211C>T	CCDS31602.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.328	0.825936	0.16749	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.05	-0.377	0.12501	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44651	-0.9314	4	.	.	.	.	7.9988	0.30284	0.4059:0.0:0.5941:0.0	.	.	.	.	Y	1539	.	.	H	-	1	0	ATG2A	64420863	0.997000	0.39634	0.997000	0.53966	0.848000	0.48234	0.323000	0.19593	-0.146000	0.11274	-0.367000	0.07326	CAT		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		17	30	0	0	0	1	0	17	30				
MTF2	22823	broad.mit.edu	37	1	93602428	93602428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93602428G>A	ENST00000370298.4	+	15	1915	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	MTF2_ENST00000370303.4_Silent_p.E485E|MTF2_ENST00000540243.1_Silent_p.E440E|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Silent_p.E440E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	542					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CAGATCAGGAGTTACAACTCA	0.388																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1624-1626)gaG>gaA		metal response element binding transcription factor 2							111.0	108.0	109.0					1																	93602428		2203	4300	6503	SO:0001819	synonymous_variant	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93602428G>A	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1626G>A	1.37:g.93602428G>A						MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Silent_p.E440E|MTF2_ENST00000545708.1_Silent_p.E440E|MTF2_ENST00000370303.4_Silent_p.E485E	p.E542E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	15	1915	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	542					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Silent	SNP	ENST00000370298.4	37	c.1626G>A	CCDS742.1																																																																																				0.388	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		95	66	0	0	0	1	0	95	66				
IKZF4	64375	broad.mit.edu	37	12	56428881	56428881	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56428881C>T	ENST00000262032.5	+	12	1891	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	IKZF4_ENST00000431367.2_Silent_p.G406G|IKZF4_ENST00000547791.1_Silent_p.G463G|IKZF4_ENST00000547167.1_Silent_p.G508G|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	508					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TATTGCGGGGCACCCCAGGCC	0.647																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1522-1524)ggC>ggT		IKAROS family zinc finger 4 (Eos)							75.0	78.0	77.0					12																	56428881		1945	4166	6111	SO:0001819	synonymous_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56428881C>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1524C>T	12.37:g.56428881C>T						IKZF4_ENST00000547167.1_Silent_p.G508G|IKZF4_ENST00000431367.2_Silent_p.G406G|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.G463G	p.G508G			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	1891	+			508					Q96JP3	Silent	SNP	ENST00000262032.5	37	c.1524C>T	CCDS44917.1																																																																																				0.647	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		44	50	0	0	0	1	0	44	50				
CACNA1D	776	broad.mit.edu	37	3	53839116	53839116	+	Missense_Mutation	SNP	G	G	A	rs142184099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53839116G>A	ENST00000350061.5	+	45	6203	c.5692G>A	c.(5692-5694)Gtt>Att	p.V1898I	CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1918I|CACNA1D_ENST00000544977.1_Missense_Mutation_p.V277I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1874I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1898					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGACTCGCCCGTTTGCTATGA	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19332	0.0		0.0	False		,,,				2504	0.0					ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5752-5754)Gtt>Att		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)	G	ILE/VAL,ILE/VAL,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	97.0	94.0	95.0		5752,5620,5692	-7.6	0.0	3	dbSNP_134	95	0,8600		0,0,4300	yes	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	29,29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	1918/2182,1874/2138,1898/2162	53839116	4,13002	2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53839116G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5692G>A	3.37:g.53839116G>A	ENSP00000288133:p.Val1898Ile					CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1898I|CACNA1D_ENST00000544977.1_Missense_Mutation_p.V277I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1874I	p.V1918I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	46	5870	+			1898					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5752G>A	CCDS46848.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.050	-1.252377	0.01469	9.08E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.8	-7.57	0.01318	.	.	.	.	.	T	0.14442	0.0349	N	0.00246	-1.78	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.42666	-0.9438	9	0.36615	T	0.2	.	16.6507	0.85188	0.8152:0.0:0.1848:0.0	.	1874;1591;1898;1918	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	I	1898;1918;1874;1591;277	ENSP00000288133:V1898I;ENSP00000288139:V1918I;ENSP00000409174:V1874I;ENSP00000418014:V1591I;ENSP00000440956:V277I	ENSP00000288139:V1918I	V	+	1	0	CACNA1D	53814156	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.246000	0.08878	-1.498000	0.01824	-2.209000	0.00301	GTT		0.547	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		35	50	0	0	0	1	0	35	50				
PDP1	54704	broad.mit.edu	37	8	94934696	94934696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94934696G>T	ENST00000297598.4	+	2	678	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	PDP1_ENST00000517764.1_Missense_Mutation_p.G137W|PDP1_ENST00000520728.1_Missense_Mutation_p.G137W|PDP1_ENST00000396200.3_Missense_Mutation_p.G162W	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	137					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGACCAGAGGGATGCTTTT	0.473																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(484-486)Ggg>Tgg		pyruvate dehyrogenase phosphatase catalytic subunit 1							66.0	69.0	68.0					8																	94934696		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934696G>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.409G>T	8.37:g.94934696G>T	ENSP00000297598:p.Gly137Trp					PDP1_ENST00000517764.1_Missense_Mutation_p.G137W|PDP1_ENST00000520728.1_Missense_Mutation_p.G137W|PDP1_ENST00000297598.4_Missense_Mutation_p.G137W	p.G162W	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	760	+			137					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.484G>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307585	0.60305	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	6.03	5.16	0.70880	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.20530	0.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.15492	-1.0435	10	0.19147	T	0.46	-20.5221	15.1941	0.73071	0.0673:0.0:0.9327:0.0	.	188;137	B4DYX8;Q9P0J1	.;PDP1_HUMAN	W	137;137;162;137;137;137	ENSP00000297598:G137W;ENSP00000428317:G137W;ENSP00000379503:G162W;ENSP00000430380:G137W;ENSP00000430655:G137W	ENSP00000297598:G137W	G	+	1	0	PDP1	95003872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	1.553000	0.49476	0.557000	0.71058	GGG		0.473	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		6	65	1	0	0.00116845	1	0.00124821	6	65				
KIAA0753	9851	broad.mit.edu	37	17	6524242	6524242	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6524242A>C	ENST00000361413.3	-	7	1539	c.1181T>G	c.(1180-1182)tTt>tGt	p.F394C	KIAA0753_ENST00000572370.1_Missense_Mutation_p.F95C|KIAA0753_ENST00000542606.1_Missense_Mutation_p.F95C|KIAA0753_ENST00000589033.1_5'Flank	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	394						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCGATAGGAAATCTGCTCCG	0.443																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1180-1182)tTt>tGt		KIAA0753							155.0	147.0	150.0					17																	6524242		1869	4105	5974	SO:0001583	missense	9851					centrosome		g.chr17:6524242A>C		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1181T>G	17.37:g.6524242A>C	ENSP00000355250:p.Phe394Cys					KIAA0753_ENST00000572370.1_Missense_Mutation_p.F95C|KIAA0753_ENST00000542606.1_Missense_Mutation_p.F95C	p.F394C	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	7	1539	-			394					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1181T>G	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973590	0.53720	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.85861	-2.04;-2.04	4.92	2.69	0.31865	.	0.366329	0.30085	N	0.010444	D	0.88837	0.6545	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.86561	0.1841	10	0.62326	D	0.03	-19.8733	3.6012	0.08026	0.7041:0.0:0.1012:0.1947	.	394	Q2KHM9	K0753_HUMAN	C	394;95	ENSP00000355250:F394C;ENSP00000444634:F95C	ENSP00000355250:F394C	F	-	2	0	KIAA0753	6464966	1.000000	0.71417	0.988000	0.46212	0.746000	0.42486	1.671000	0.37513	0.953000	0.37825	0.377000	0.23210	TTT		0.443	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		10	97	0	0	0	1	0	10	97				
PAX5	5079	broad.mit.edu	37	9	36882013	36882013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36882013C>A	ENST00000358127.4	-	8	1074	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	PAX5_ENST00000377852.2_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.G291W|PAX5_ENST00000377853.2_Missense_Mutation_p.G334W|PAX5_ENST00000522003.1_Missense_Mutation_p.G226W|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.G291W|PAX5_ENST00000523145.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	334					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGCACCATCCCTGTCAGCGTC	0.667			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	22	Unknown(22)	p.?(22)	haematopoietic_and_lymphoid_tissue(22)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(1000-1002)Ggg>Tgg		paired box 5							43.0	37.0	39.0					9																	36882013		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36882013C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.1000G>T	9.37:g.36882013C>A	ENSP00000350844:p.Gly334Trp					PAX5_ENST00000377852.2_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.G226W|PAX5_ENST00000520281.1_Missense_Mutation_p.G291W|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.G291W|PAX5_ENST00000377853.2_Missense_Mutation_p.G334W|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron	p.G334W	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	8	1074	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	334					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.1000G>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927810	0.92389	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000520281;ENST00000522003;ENST00000414447;ENST00000524340	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	T	0.79509	-0.1774	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	291;291;161;334;334	C0KTF8;C0KTF7;C0KTE2;Q6S730;Q02548	.;.;.;.;PAX5_HUMAN	W	334;245;334;291;226;291;161	ENSP00000350844:G334W;ENSP00000367084:G334W;ENSP00000430773:G291W;ENSP00000429359:G226W;ENSP00000412188:G291W;ENSP00000429404:G161W	ENSP00000350844:G334W	G	-	1	0	PAX5	36872013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.420000	0.80191	2.837000	0.97791	0.655000	0.94253	GGG		0.667	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			8	8	1	0	0.000157383	1	0.00017284	8	8				
KDM3A	55818	broad.mit.edu	37	2	86719198	86719198	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86719198G>T	ENST00000409556.1	+	27	4287	c.3922G>T	c.(3922-3924)Gtt>Ttt	p.V1308F	KDM3A_ENST00000542128.1_Missense_Mutation_p.V1256F|KDM3A_ENST00000312912.5_Missense_Mutation_p.V1308F|KDM3A_ENST00000409064.1_Missense_Mutation_p.V1308F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1308					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAAGATGCAGTTGCTATGCT	0.378																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(3922-3924)Gtt>Ttt		lysine (K)-specific demethylase 3A							92.0	92.0	92.0					2																	86719198		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86719198G>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3922G>T	2.37:g.86719198G>T	ENSP00000386660:p.Val1308Phe					KDM3A_ENST00000409064.1_Missense_Mutation_p.V1308F|KDM3A_ENST00000542128.1_Missense_Mutation_p.V1256F|KDM3A_ENST00000312912.5_Missense_Mutation_p.V1308F	p.V1308F			Q9Y4C1	KDM3A_HUMAN			27	4287	+			1308					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.3922G>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183652	0.78677	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.5	4.61	0.57282	.	0.175786	0.39407	N	0.001363	T	0.78521	0.4296	M	0.66939	2.045	0.50313	D	0.99986	D;P	0.55800	0.973;0.913	P;P	0.61328	0.887;0.564	T	0.79500	-0.1778	10	0.72032	D	0.01	.	9.5161	0.39106	0.156:0.0:0.844:0.0	.	1256;1308	F5H070;Q9Y4C1	.;KDM3A_HUMAN	F	1308;1308;1308;1308;1256	ENSP00000386660:V1308F;ENSP00000323659:V1308F;ENSP00000386516:V1308F;ENSP00000438324:V1256F	ENSP00000323659:V1308F	V	+	1	0	KDM3A	86572709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.937000	0.63513	2.731000	0.93534	0.655000	0.94253	GTT		0.378	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		9	20	1	0	5.4927e-09	1	6.6252e-09	9	20				
CD2BP2	10421	broad.mit.edu	37	16	30364965	30364965	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30364965G>A	ENST00000305596.3	-	5	707	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	CD2BP2_ENST00000569466.1_Silent_p.L178L|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	178					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CGGGCCCCCAGACGCCTCAGT	0.647																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(532-534)Ctg>Ttg		CD2 (cytoplasmic tail) binding protein 2							11.0	13.0	12.0					16																	30364965		2188	4279	6467	SO:0001819	synonymous_variant	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364965G>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.532C>T	16.37:g.30364965G>A						CD2BP2_ENST00000569466.1_Silent_p.L178L	p.L178L	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			5	707	-			178					B2RDX2|Q9ULP2	Silent	SNP	ENST00000305596.3	37	c.532C>T	CCDS10675.1																																																																																				0.647	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		6	10	0	0	0	1	0	6	10				
DCST2	127579	broad.mit.edu	37	1	155005152	155005152	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155005152T>A	ENST00000368424.3	-	3	590	c.532A>T	c.(532-534)Aaa>Taa	p.K178*	DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST2_ENST00000295536.5_Nonsense_Mutation_p.K178*|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	178						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTATGTGTTTCACACCATCC	0.532																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(532-534)Aaa>Taa		DC-STAMP domain containing 2							96.0	90.0	92.0					1																	155005152		2203	4300	6503	SO:0001587	stop_gained	127579					integral to membrane		g.chr1:155005152T>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.532A>T	1.37:g.155005152T>A	ENSP00000357409:p.Lys178*					DCST2_ENST00000295536.5_Nonsense_Mutation_p.K178*	p.K178*	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	590	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		178					Q2M2R2|Q8N810|Q96M03	Nonsense_Mutation	SNP	ENST00000368424.3	37	c.532A>T	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	T	36	5.852353	0.97030	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	.	.	.	4.43	4.43	0.53597	.	0.327961	0.25001	N	0.033910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.649	11.5744	0.50854	0.0:0.0:0.0:1.0	.	.	.	.	X	178	.	ENSP00000295536:K178X	K	-	1	0	DCST2	153271776	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	2.192000	0.42649	1.992000	0.58205	0.533000	0.62120	AAA		0.532	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		13	58	0	0	0	1	0	13	58				
MSANTD2	79684	broad.mit.edu	37	11	124637845	124637845	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124637845C>A	ENST00000374979.3	-	4	915	c.907G>T	c.(907-909)Gac>Tac	p.D303Y	MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000239614.4_Missense_Mutation_p.D251Y|MSANTD2_ENST00000526629.1_Missense_Mutation_p.D73Y|RP11-677M14.3_ENST00000532579.1_RNA|RP11-677M14.3_ENST00000504932.2_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	303																	CTTGAAAAGTCTGTCCAGCTC	0.388																																						ENST00000526629.1																			0											c.(217-219)Gac>Tac		Myb/SANT-like DNA-binding domain containing 2							79.0	84.0	82.0					11																	124637845		2201	4299	6500	SO:0001583	missense	79684							g.chr11:124637845C>A	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.907G>T	11.37:g.124637845C>A	ENSP00000364118:p.Asp303Tyr					MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000374979.3_Missense_Mutation_p.D303Y|MSANTD2_ENST00000239614.4_Missense_Mutation_p.D251Y	p.D73Y			Q6P1R3	CK061_HUMAN			3	1664	-			303			Gly-rich.		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	ENST00000374979.3	37	c.217G>T		.	.	.	.	.	.	.	.	.	.	C	19.67	3.870498	0.72065	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.3	5.3	0.74995	.	0.051334	0.85682	D	0.000000	T	0.65260	0.2674	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66979	0.921;0.948	T	0.69803	-0.5046	9	0.87932	D	0	-21.164	19.3243	0.94254	0.0:1.0:0.0:0.0	.	303;251	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	Y	251;303;73	.	ENSP00000239614:D251Y	D	-	1	0	C11orf61	124143055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.354000	0.79424	2.629000	0.89072	0.585000	0.79938	GAC		0.388	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		11	97	1	0	1.08611e-07	1	1.2824e-07	11	97				
LIMD1	8994	broad.mit.edu	37	3	45714235	45714235	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45714235C>A	ENST00000273317.4	+	5	1716	c.1695C>A	c.(1693-1695)atC>atA	p.I565I	LIMD1_ENST00000465039.1_3'UTR|LIMD1_ENST00000440097.1_Silent_p.I565I	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	565	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCTGTGTCATCTGTAATGAGT	0.527																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1693-1695)atC>atA		LIM domains containing 1							146.0	127.0	134.0					3																	45714235		2203	4300	6503	SO:0001819	synonymous_variant	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45714235C>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1695C>A	3.37:g.45714235C>A						LIMD1_ENST00000440097.1_Silent_p.I565I|LIMD1_ENST00000465039.1_3'UTR	p.I565I	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	5	1716	+			565			LIM zinc-binding 2.|Necessary for nuclear localization.		Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	ENST00000273317.4	37	c.1695C>A	CCDS2729.1																																																																																				0.527	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		6	64	1	0	0.0215528	1	0.0221649	6	64				
CDX4	1046	broad.mit.edu	37	X	72667386	72667386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667386C>T	ENST00000373514.2	+	1	297	c.297C>T	c.(295-297)aaC>aaT	p.N99N		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	99					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGCCGGTGAACGACGTGACCT	0.647																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(295-297)aaC>aaT		caudal type homeobox 4							44.0	36.0	39.0					X																	72667386		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667386C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.297C>T	X.37:g.72667386C>T							p.N99N	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	297	+	Renal(35;0.156)		99					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.297C>T	CCDS14424.1																																																																																				0.647	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		9	18	0	0	0	1	0	9	18				
CLYBL	171425	broad.mit.edu	37	13	100515249	100515249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100515249C>T	ENST00000376360.1	+	4	470	c.443C>T	c.(442-444)gCa>gTa	p.A148V	CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000376354.1_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.A148V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	148						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTAGTTTGCAGACAAATTT	0.358																																						ENST00000376360.1																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(442-444)gCa>gTa		citrate lyase beta like							70.0	66.0	67.0					13																	100515249		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100515249C>T	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.443C>T	13.37:g.100515249C>T	ENSP00000365538:p.Ala148Val					CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.A148V|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000376354.1_Intron	p.A148V			Q8N0X4	CLYBL_HUMAN			4	470	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		148					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.443C>T	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115248	0.37339	.	.	ENSG00000125246	ENST00000376360;ENST00000339105;ENST00000416504	T;T;T	0.25749	1.78;1.78;1.78	5.52	4.68	0.58851	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.374580	0.29246	N	0.012708	T	0.23249	0.0562	L	0.47016	1.485	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.04413	-1.0953	10	0.15952	T	0.53	-1.1357	14.5157	0.67818	0.0:0.9294:0.0:0.0706	.	148	Q8N0X4	CLYBL_HUMAN	V	148;148;65	ENSP00000365538:A148V;ENSP00000342991:A148V;ENSP00000403408:A65V	ENSP00000342991:A148V	A	+	2	0	CLYBL	99313250	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.512000	0.67030	1.468000	0.48064	0.563000	0.77884	GCA		0.358	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			4	41	0	0	0	1	0	4	41				
DSC3	1825	broad.mit.edu	37	18	28588282	28588282	+	Silent	SNP	G	G	A	rs138254140		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588282G>A	ENST00000360428.4	-	10	1553	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	DSC3_ENST00000434452.1_Silent_p.N491N	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	491	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.N491N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTTATAGCCGTTGATCTTTG	0.388																																						ENST00000434452.1																			2	Substitution - coding silent(2)	p.N491N(2)	lung(2)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1471-1473)aaC>aaT		desmocollin 3		A	,	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		1473,1473	0.4	0.9	18	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DSC3	NM_001941.3,NM_024423.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	491/897,491/840	28588282	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588282G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1473C>T	18.37:g.28588282G>A						DSC3_ENST00000360428.4_Silent_p.N491N	p.N491N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		10	1627	-			491			Cadherin 4.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1473C>T	CCDS32810.1																																																																																				0.388	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		25	30	0	0	0	1	0	25	30				
ARID4A	5926	broad.mit.edu	37	14	58831193	58831193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831193C>T	ENST00000355431.3	+	20	2759	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	ARID4A_ENST00000348476.3_Nonsense_Mutation_p.R796*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.R796*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.R796*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	796					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGGAAGACGAAGCAAGAC	0.343																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2386-2388)Cga>Tga		AT rich interactive domain 4A (RBP1-like)							36.0	40.0	39.0					14																	58831193		2202	4295	6497	SO:0001587	stop_gained	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831193C>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2386C>T	14.37:g.58831193C>T	ENSP00000347602:p.Arg796*					ARID4A_ENST00000431317.2_Nonsense_Mutation_p.R796*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.R796*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.R796*	p.R796*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	2759	+			796					Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	c.2386C>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	42	9.479006	0.99183	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	.	.	.	5.9	2.71	0.32032	.	0.655675	0.15390	N	0.264888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5119	14.4898	0.67642	0.77:0.23:0.0:0.0	.	.	.	.	X	796;796;796;796;474	.	ENSP00000344556:R796X	R	+	1	2	ARID4A	57900946	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.160000	0.31761	0.292000	0.22492	0.650000	0.86243	CGA		0.343	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		9	34	0	0	0	1	0	9	34				
CLCA1	1179	broad.mit.edu	37	1	86939129	86939129	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86939129G>A	ENST00000234701.3	+	3	543	c.192G>A	c.(190-192)ctG>ctA	p.L64L	CLCA1_ENST00000394711.1_Silent_p.L64L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	64	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCTGTATCTGCTTGAAGCTA	0.358																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(190-192)ctG>ctA		chloride channel accessory 1							65.0	63.0	64.0					1																	86939129		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86939129G>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.192G>A	1.37:g.86939129G>A						CLCA1_ENST00000394711.1_Silent_p.L64L	p.L64L			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	3	543	+		Lung NSC(277;0.239)	64					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.192G>A	CCDS709.1																																																																																				0.358	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		6	115	0	0	0	1	0	6	115				
NDC80	10403	broad.mit.edu	37	18	2578944	2578944	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2578944C>T	ENST00000261597.4	+	6	677	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	165	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGCACTATCCAAAAGCTCCA	0.348																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(493-495)tcC>tcT		NDC80 kinetochore complex component							100.0	92.0	95.0					18																	2578944		2203	4300	6503	SO:0001819	synonymous_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2578944C>T	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.495C>T	18.37:g.2578944C>T						NDC80_ENST00000576274.1_3'UTR	p.S165S	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			6	677	+			165			Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Silent	SNP	ENST00000261597.4	37	c.495C>T	CCDS11827.1																																																																																				0.348	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		7	44	0	0	0	1	0	7	44				
GNAZ	2781	broad.mit.edu	37	22	23465441	23465441	+	Silent	SNP	C	C	T	rs146853897		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23465441C>T	ENST00000248996.4	+	3	1557	c.891C>T	c.(889-891)taC>taT	p.Y297Y	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	297					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAACACGTACGAGGAGGCCG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18987	0.0		0.0	False		,,,				2504	0.0					ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(889-891)taC>taT		guanine nucleotide binding protein (G protein), alpha z polypeptide		C	,	12,4394	19.1+/-41.9	1,10,2192	108.0	89.0	95.0		891,	-0.6	1.0	22	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	,	1,12,6490	TT,TC,CC		0.0233,0.2724,0.1076	,	297/356,	23465441	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465441C>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.891C>T	22.37:g.23465441C>T						RTDR1_ENST00000216036.4_Intron	p.Y297Y	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1557	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		297					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.891C>T	CCDS13804.1																																																																																				0.572	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		13	26	0	0	0	1	0	13	26				
ZNF292	23036	broad.mit.edu	37	6	87970632	87970632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970632C>T	ENST00000369577.3	+	8	7328	c.7285C>T	c.(7285-7287)Cgg>Tgg	p.R2429W	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2424W	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2429						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTATTCAAACGGTGTTGCAA	0.348																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7285-7287)Cgg>Tgg		zinc finger protein 292							40.0	38.0	38.0					6																	87970632		1886	4107	5993	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970632C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7285C>T	6.37:g.87970632C>T	ENSP00000358590:p.Arg2429Trp					ZNF292_ENST00000339907.4_Missense_Mutation_p.R2424W	p.R2429W	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7328	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2429					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.7285C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740561	0.49045	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07688	3.17;3.18	5.32	3.38	0.38709	.	0.499250	0.22155	N	0.063865	T	0.05364	0.0142	L	0.54323	1.7	0.37641	D	0.922044	D	0.61697	0.99	B	0.43623	0.425	T	0.22521	-1.0214	10	0.87932	D	0	.	11.9739	0.53081	0.5495:0.4505:0.0:0.0	.	2429	O60281	ZN292_HUMAN	W	2429;2424	ENSP00000358590:R2429W;ENSP00000342847:R2424W	ENSP00000342847:R2424W	R	+	1	2	ZNF292	88027351	1.000000	0.71417	0.915000	0.36163	0.988000	0.76386	3.353000	0.52247	1.196000	0.43129	0.591000	0.81541	CGG		0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	13	0	0	0	1	0	8	13				
APPL1	26060	broad.mit.edu	37	3	57274504	57274504	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57274504T>C	ENST00000288266.3	+	5	444	c.297T>C	c.(295-297)tgT>tgC	p.C99C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	99	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTAGCTCTTGTCATGCAGTGC	0.343																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(295-297)tgT>tgC		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							170.0	148.0	156.0					3																	57274504		2203	4300	6503	SO:0001819	synonymous_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57274504T>C	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.297T>C	3.37:g.57274504T>C							p.C99C	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	5	444	+			99			Required for RAB5A binding.		Q9P2B9	Silent	SNP	ENST00000288266.3	37	c.297T>C	CCDS2882.1																																																																																				0.343	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		42	53	0	0	0	1	0	42	53				
MAGEB6	158809	broad.mit.edu	37	X	26213143	26213143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26213143G>A	ENST00000379034.1	+	2	1329	c.1180G>A	c.(1180-1182)Gct>Act	p.A394T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	394	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTATGAAGACGCTTTGATAGA	0.507																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1180-1182)Gct>Act		melanoma antigen family B, 6							121.0	111.0	115.0					X																	26213143		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26213143G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1180G>A	X.37:g.26213143G>A	ENSP00000368320:p.Ala394Thr						p.A394T	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1329	+			394			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1180G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398023	0.42512	.	.	ENSG00000176746	ENST00000379034	T	0.08370	3.1	3.29	1.37	0.22104	.	0.066193	0.64402	U	0.000016	T	0.28699	0.0711	H	0.94462	3.54	0.09310	N	1	D	0.76494	0.999	D	0.62955	0.909	T	0.12578	-1.0542	10	0.66056	D	0.02	.	4.2109	0.10510	0.1407:0.2327:0.6266:0.0	.	394	Q8N7X4	MAGB6_HUMAN	T	394	ENSP00000368320:A394T	ENSP00000368320:A394T	A	+	1	0	MAGEB6	26123064	0.034000	0.19679	0.010000	0.14722	0.004000	0.04260	0.486000	0.22340	0.226000	0.20979	0.594000	0.82650	GCT		0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		56	92	0	0	0	1	0	56	92				
SSTR4	6754	broad.mit.edu	37	20	23016577	23016577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016577C>T	ENST00000255008.3	+	1	521	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	153					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACCCTCTGCGCGCGGCGAC	0.667																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(457-459)Cgc>Tgc		somatostatin receptor 4							53.0	56.0	55.0					20																	23016577		2202	4295	6497	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016577C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.457C>T	20.37:g.23016577C>T	ENSP00000255008:p.Arg153Cys					RP4-753D10.3_ENST00000440921.1_RNA	p.R153C	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	521	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		153					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.457C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308194	0.60305	.	.	ENSG00000132671	ENST00000255008	T	0.43294	0.95	3.87	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.103756	0.36972	U	0.002306	T	0.66655	0.2811	M	0.94101	3.495	0.51767	D	0.999937	D	0.76494	0.999	D	0.71414	0.973	T	0.69308	-0.5179	10	0.87932	D	0	.	7.3821	0.26862	0.2785:0.5787:0.1428:0.0	.	153	P31391	SSR4_HUMAN	C	153	ENSP00000255008:R153C	ENSP00000255008:R153C	R	+	1	0	SSTR4	22964577	0.018000	0.18449	0.854000	0.33618	0.803000	0.45373	0.315000	0.19451	0.773000	0.33404	0.655000	0.94253	CGC		0.667	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			21	27	0	0	0	1	0	21	27				
HELZ2	85441	broad.mit.edu	37	20	62200916	62200916	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62200916G>A	ENST00000467148.1	-	4	742	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	225					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACACGGAAGCGCTCACCCCGT	0.667																																						ENST00000467148.1																			0											c.(673-675)Cgc>Tgc		helicase with zinc finger 2, transcriptional coactivator							16.0	16.0	16.0					20																	62200916		2177	4279	6456	SO:0001583	missense	85441							g.chr20:62200916G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.673C>T	20.37:g.62200916G>A	ENSP00000417401:p.Arg225Cys						p.R225C	NM_001037335.2	NP_001032412.2					4	742	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.673C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829831	0.16749	.	.	ENSG00000130589	ENST00000467148	T	0.02682	4.2	4.5	3.44	0.39384	.	1.599160	0.04300	N	0.347230	T	0.05686	0.0149	L	0.57536	1.79	0.09310	N	1	B	0.28850	0.225	B	0.15870	0.014	T	0.39921	-0.9590	10	0.56958	D	0.05	-4.095	13.3606	0.60654	0.0:0.0:0.7361:0.2639	.	225	Q9BYK8	PR285_HUMAN	C	225	ENSP00000417401:R225C	ENSP00000417401:R225C	R	-	1	0	RP4-697K14.7	61671360	0.017000	0.18338	0.143000	0.22291	0.026000	0.11368	1.843000	0.39259	2.068000	0.61886	0.563000	0.77884	CGC		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	6	0	0	0	1	0	6	6				
PCDHGA12	26025	broad.mit.edu	37	5	140811664	140811664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811664C>T	ENST00000252085.3	+	1	1480	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	446	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACACCAACGACAACCCGC	0.582																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1336-1338)aaC>aaT									65.0	72.0	70.0					5																	140811664		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140811664C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1338C>T	5.37:g.140811664C>T						PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.N446N	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1480	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.1338C>T	CCDS4260.1																																																																																				0.582	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		11	29	0	0	0	1	0	11	29				
OR1D2	4991	broad.mit.edu	37	17	2996130	2996130	+	Missense_Mutation	SNP	C	C	T	rs139391156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2996130C>T	ENST00000331459.1	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	54					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTGTGCAGGCGGGAATCAGA	0.552																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(160-162)cGc>cAc		olfactory receptor, family 1, subfamily D, member 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	149.0	141.0	144.0		161	-0.4	0.2	17	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1D2	NM_002548.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	54/313	2996130	2,13004	2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996130C>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.161G>A	17.37:g.2996130C>T	ENSP00000327585:p.Arg54His						p.R54H	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	160	-			54					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.161G>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.926181	0.00493	2.27E-4	1.16E-4	ENSG00000184166	ENST00000331459	T	0.00476	7.15	3.0	-0.437	0.12272	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.10685	0.025	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.35276	-0.9795	9	0.02654	T	1	.	4.0688	0.09872	0.0:0.4704:0.1748:0.3548	.	54	P34982	OR1D2_HUMAN	H	54	ENSP00000327585:R54H	ENSP00000327585:R54H	R	-	2	0	OR1D2	2942880	0.000000	0.05858	0.224000	0.23877	0.648000	0.38561	-3.370000	0.00494	0.021000	0.15133	-0.266000	0.10368	CGC		0.552	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		7	127	0	0	0	1	0	7	127				
FGFR2	2263	broad.mit.edu	37	10	123310926	123310926	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123310926C>T	ENST00000358487.5	-	5	774	c.502G>A	c.(502-504)Gct>Act	p.A168T	FGFR2_ENST00000357555.5_Missense_Mutation_p.A79T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A168T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A168T|FGFR2_ENST00000360144.3_Missense_Mutation_p.A79T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A53T|FGFR2_ENST00000369060.4_Missense_Mutation_p.A168T|FGFR2_ENST00000457416.2_Missense_Mutation_p.A168T|FGFR2_ENST00000356226.4_Missense_Mutation_p.A53T|FGFR2_ENST00000369061.4_Missense_Mutation_p.A168T|FGFR2_ENST00000359354.2_Missense_Mutation_p.A168T|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	168	Heparin-binding.|Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GCAGGCACAGCATGGAGCCGC	0.517		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(502-504)Gct>Act		fibroblast growth factor receptor 2	Palifermin(DB00039)						111.0	94.0	100.0					10																	123310926		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123310926C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.502G>A	10.37:g.123310926C>T	ENSP00000351276:p.Ala168Thr					FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Missense_Mutation_p.A79T|FGFR2_ENST00000369060.4_Missense_Mutation_p.A168T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369061.4_Missense_Mutation_p.A168T|FGFR2_ENST00000457416.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A53T|FGFR2_ENST00000357555.5_Missense_Mutation_p.A79T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A168T|FGFR2_ENST00000359354.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A168T|FGFR2_ENST00000356226.4_Missense_Mutation_p.A53T	p.A168T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	5	774	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	168			Heparin-binding.|Ig-like C2-type 2.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.502G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186392	0.78789	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;1.71	4.89	4.89	0.63831	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	L	0.28054	0.825	0.80722	D	1	P;P;D;D;P;P;D;D;D;D;P;D	0.89917	0.75;0.876;0.996;0.997;0.658;0.951;0.998;0.993;0.993;1.0;0.799;0.999	P;P;D;D;P;P;P;D;D;D;P;D	0.78314	0.588;0.904;0.948;0.934;0.708;0.798;0.897;0.933;0.971;0.985;0.508;0.991	D	0.85944	0.1460	10	0.54805	T	0.06	.	18.0697	0.89402	0.0:1.0:0.0:0.0	.	187;187;53;168;187;168;79;53;168;187;79;168	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	T	79;168;168;168;53;168;53;168;168;168;79;168;168;79;168	ENSP00000350166:A79T;ENSP00000358057:A168T;ENSP00000351276:A168T;ENSP00000348559:A53T;ENSP00000358056:A168T;ENSP00000358055:A53T;ENSP00000263451:A168T;ENSP00000410294:A168T;ENSP00000309878:A168T;ENSP00000353262:A79T;ENSP00000358052:A168T;ENSP00000358054:A168T;ENSP00000337665:A79T;ENSP00000352309:A168T	ENSP00000337665:A79T	A	-	1	0	FGFR2	123300916	1.000000	0.71417	0.094000	0.20943	0.280000	0.26924	7.753000	0.85153	2.255000	0.74692	0.609000	0.83330	GCT		0.517	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		6	45	0	0	0	1	0	6	45				
TTN	7273	broad.mit.edu	37	2	179614545	179614545	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179614545T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.Q4194Q			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTCCATTTTGAAACCATG	0.373																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12580-12582)caA>caG		titin							51.0	56.0	54.0					2																	179614545		2199	4296	6495	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614545T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3305A>G	2.37:g.179614545T>C						TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	p.Q4194Q	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12804	-			3538					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.12582A>G																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	70	0	0	0	1	0	5	70				
PPP1R10	5514	broad.mit.edu	37	6	30571787	30571787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30571787C>T	ENST00000376511.2	-	14	2058	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	502	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CTGCTCACCTCTCCTTGTTCA	0.542																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1504-1506)gaG>gaA		protein phosphatase 1, regulatory subunit 10							103.0	114.0	110.0					6																	30571787		2203	4300	6503	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571787C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1506G>A	6.37:g.30571787C>T							p.E502E	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			14	2058	-			502			Interaction with WDR82 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.1506G>A	CCDS4681.1																																																																																				0.542	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		9	163	0	0	0	1	0	9	163				
SLC26A3	1811	broad.mit.edu	37	7	107415298	107415298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107415298C>T	ENST00000340010.5	-	16	1881	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1696-1698)cGa>cAa		solute carrier family 26 (anion exchanger), member 3							141.0	125.0	131.0					7																	107415298		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107415298C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1697G>A	7.37:g.107415298C>T	ENSP00000345873:p.Arg566Gln					SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q	p.R566Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			16	1881	-			566			STAS.			Missense_Mutation	SNP	ENST00000340010.5	37	c.1697G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830181	0.91036	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89270	-2.49;-2.49	6.11	6.11	0.99139	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.147172	0.64402	D	0.000014	D	0.94922	0.8358	M	0.83603	2.65	0.41169	D	0.98615	P;D	0.76494	0.94;0.999	B;D	0.73708	0.296;0.981	D	0.92916	0.6351	10	0.33141	T	0.24	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	531;566	G5E9U3;P40879	.;S26A3_HUMAN	Q	531;566	ENSP00000415817:R531Q;ENSP00000345873:R566Q	ENSP00000345873:R566Q	R	-	2	0	SLC26A3	107202534	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.089000	0.57685	2.906000	0.99361	0.655000	0.94253	CGA		0.398	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		24	55	0	0	0	1	0	24	55				
OR7A10	390892	broad.mit.edu	37	19	14952327	14952327	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952327G>A	ENST00000248058.1	-	1	362	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCACAAACCGGTCATAGGCCA	0.478																																						ENST00000248058.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(361-363)gaC>gaT		olfactory receptor, family 7, subfamily A, member 10							98.0	86.0	90.0					19																	14952327		2203	4300	6503	SO:0001819	synonymous_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952327G>A		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.363C>T	19.37:g.14952327G>A							p.D121D	NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN			1	362	-	Ovarian(108;0.203)		121					Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	c.363C>T	CCDS32936.1																																																																																				0.478	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		20	30	0	0	0	1	0	20	30				
MAGED1	9500	broad.mit.edu	37	X	51640312	51640312	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640312G>C	ENST00000375722.1	+	5	1683	c.1431G>C	c.(1429-1431)aaG>aaC	p.K477N	MAGED1_ENST00000375772.3_Missense_Mutation_p.K477N|MAGED1_ENST00000375695.2_Missense_Mutation_p.K533N|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.K477N			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	477	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGGCAAATAAGTTGGTCAAGT	0.418										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1597-1599)aaG>aaC		melanoma antigen family D, 1							86.0	68.0	74.0					X																	51640312		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640312G>C	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1431G>C	X.37:g.51640312G>C	ENSP00000364874:p.Lys477Asn	Multiple Myeloma(10;0.10)				MAGED1_ENST00000375722.1_Missense_Mutation_p.K477N|MAGED1_ENST00000375772.3_Missense_Mutation_p.K477N|MAGED1_ENST00000326587.7_Missense_Mutation_p.K477N|MAGED1_ENST00000494718.1_3'UTR	p.K533N	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			6	1752	+	Ovarian(276;0.236)		477			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1599G>C	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834533	0.32421	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	3.54	1.73	0.24493	.	0.000000	0.39615	N	0.001317	T	0.54743	0.1877	L	0.36672	1.1	0.33997	D	0.649784	D;D	0.76494	0.999;0.981	D;D	0.78314	0.991;0.95	T	0.60525	-0.7246	10	0.41790	T	0.15	.	5.2122	0.15322	0.2823:0.0:0.7177:0.0	.	533;477	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	N	477;477;477;533	ENSP00000364927:K477N;ENSP00000364874:K477N;ENSP00000325333:K477N;ENSP00000364847:K533N	ENSP00000325333:K477N	K	+	3	2	MAGED1	51657052	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	0.670000	0.25157	0.328000	0.23435	0.429000	0.28392	AAG		0.418	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		18	35	0	0	0	1	0	18	35				
ARHGAP9	64333	broad.mit.edu	37	12	57867416	57867416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867416G>T	ENST00000356411.2	-	17	2189	c.2051C>A	c.(2050-2052)aCt>aAt	p.T684N	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.T481N|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.T665N|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.T755N|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	684	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTACCGTAGAGTGTCATGGTT	0.502																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2263-2265)aCt>aAt		Rho GTPase activating protein 9							199.0	171.0	181.0					12																	57867416		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867416G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2051C>A	12.37:g.57867416G>T	ENSP00000348782:p.Thr684Asn					ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.T684N|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.T665N|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.T481N	p.T755N			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		20	2456	-			684					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2264C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.04|19.04	3.749315|3.749315	0.69533|0.69533	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|T;T;T;T;T	.|0.23552	.|1.9;1.9;1.9;1.9;1.9	4.0|4.0	4.0|4.0	0.46444|0.46444	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44973|0.44973	0.1319|0.1319	L|L	0.60455|0.60455	1.87|1.87	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;0.996;1.0	T|T	0.42275|0.42275	-0.9461|-0.9461	5|10	.|0.87932	.|D	.|0	.|.	11.8451|11.8451	0.52378|0.52378	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|684;665;481	.|Q9BRR9;Q9BRR9-2;B4DVI3	.|RHG09_HUMAN;.;.	I|N	90|665;684;290;755;707;481;154	.|ENSP00000377380:T665N;ENSP00000348782:T684N;ENSP00000377386:T755N;ENSP00000397950:T481N;ENSP00000448423:T154N	.|ENSP00000344852:T707N	L|T	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56153683|56153683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.698000|0.698000	0.40448|0.40448	6.765000|6.765000	0.74965|0.74965	2.247000|2.247000	0.74100|0.74100	0.655000|0.655000	0.94253|0.94253	CTC|ACT		0.502	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		24	39	1	0	2.12542e-12	1	2.67336e-12	24	39				
STAB1	23166	broad.mit.edu	37	3	52557070	52557070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52557070G>A	ENST00000321725.6	+	63	7016	c.6940G>A	c.(6940-6942)Gtg>Atg	p.V2314M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2314					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAATGGCTTCGTGGGTGACGG	0.597																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6940-6942)Gtg>Atg		stabilin 1							89.0	91.0	90.0					3																	52557070		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557070G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6940G>A	3.37:g.52557070G>A	ENSP00000312946:p.Val2314Met						p.V2314M	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	63	7016	+			2314					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6940G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336338	0.60963	.	.	ENSG00000010327	ENST00000321725	D	0.92249	-3.0	5.74	5.74	0.90152	FAS1 domain (1);EGF-like region, conserved site (1);	0.071927	0.53938	D	0.000046	D	0.95626	0.8578	M	0.78637	2.42	0.40049	D	0.975753	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.95845	0.8869	10	0.66056	D	0.02	.	13.802	0.63206	0.074:0.0:0.926:0.0	.	201;2314	B3KSK0;Q9NY15	.;STAB1_HUMAN	M	2314	ENSP00000312946:V2314M	ENSP00000312946:V2314M	V	+	1	0	STAB1	52532110	0.910000	0.30920	0.999000	0.59377	0.611000	0.37282	1.381000	0.34362	2.712000	0.92718	0.561000	0.74099	GTG		0.597	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		33	39	0	0	0	1	0	33	39				
SH3PXD2B	285590	broad.mit.edu	37	5	171809059	171809059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171809059C>T	ENST00000311601.5	-	5	552	c.382G>A	c.(382-384)Gac>Aac	p.D128N	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.D128N	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATTCAGGTCCTCAGGTCTT	0.567																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(382-384)Gac>Aac		SH3 and PX domains 2B							27.0	28.0	28.0					5																	171809059		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171809059C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.382G>A	5.37:g.171809059C>T	ENSP00000309714:p.Asp128Asn					SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.D128N	p.D128N	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	552	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	128			PX.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.382G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117813	0.94385	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.72942	-0.7;-0.7	5.79	5.79	0.91817	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90394	0.4397	10	0.87932	D	0	-42.9529	17.5373	0.87835	0.0:1.0:0.0:0.0	.	128	A1X283	SPD2B_HUMAN	N	128	ENSP00000430890:D128N;ENSP00000309714:D128N	ENSP00000309714:D128N	D	-	1	0	SH3PXD2B	171741664	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.137000	0.77295	2.731000	0.93534	0.650000	0.86243	GAC		0.567	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		5	10	0	0	0	1	0	5	10				
CALCOCO1	57658	broad.mit.edu	37	12	54118439	54118439	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54118439G>A	ENST00000550804.1	-	3	309	c.249C>T	c.(247-249)gtC>gtT	p.V83V	CALCOCO1_ENST00000548263.1_Silent_p.V83V|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000430117.2_Silent_p.V83V|CALCOCO1_ENST00000262059.4_Silent_p.V83V			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	83	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGGAACTGGACACTGGTGT	0.488																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(247-249)gtC>gtT		calcium binding and coiled-coil domain 1							63.0	58.0	59.0					12																	54118439		2203	4300	6503	SO:0001819	synonymous_variant	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54118439G>A	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.249C>T	12.37:g.54118439G>A						CALCOCO1_ENST00000262059.4_Silent_p.V83V|CALCOCO1_ENST00000430117.2_Silent_p.V83V|CALCOCO1_ENST00000550804.1_Silent_p.V83V|CALCOCO1_ENST00000547885.1_5'UTR	p.V83V			Q9P1Z2	CACO1_HUMAN			3	297	-			83			N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	c.249C>T	CCDS8864.1																																																																																				0.488	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		4	15	0	0	0	1	0	4	15				
FLT4	2324	broad.mit.edu	37	5	180049799	180049799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180049799G>A	ENST00000261937.6	-	12	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A530V|FLT4_ENST00000502649.1_Missense_Mutation_p.A530V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	530	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTACATGGCAGACACGTT	0.577																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1588-1590)gCc>gTc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						163.0	130.0	141.0					5																	180049799		2202	4300	6502	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180049799G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1589C>T	5.37:g.180049799G>A	ENSP00000261937:p.Ala530Val					FLT4_ENST00000393347.3_Missense_Mutation_p.A530V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A530V	p.A530V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	1667	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	530			Ig-like C2-type 5.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1589C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583060	0.46006	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.94793	-3.52;-3.52;-3.52	4.19	3.02	0.34903	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87744	0.6254	N	0.20483	0.58	0.44149	D	0.996944	B;B;B;B	0.26400	0.148;0.046;0.01;0.01	B;B;B;B	0.28991	0.037;0.097;0.097;0.044	D	0.84202	0.0451	9	0.44086	T	0.13	.	6.506	0.22196	0.3128:0.0:0.6872:0.0	.	530;340;530;530	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	V	530;530;530;340	ENSP00000261937:A530V;ENSP00000377016:A530V;ENSP00000426057:A530V	ENSP00000261937:A530V	A	-	2	0	FLT4	179982405	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.352000	0.44080	2.062000	0.61559	0.462000	0.41574	GCC		0.577	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			14	24	0	0	0	1	0	14	24				
TTN	7273	broad.mit.edu	37	2	179438273	179438273	+	Missense_Mutation	SNP	G	G	A	rs185626486	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179438273G>A	ENST00000591111.1	-	276	67887	c.67663C>T	c.(67663-67665)Cgt>Tgt	p.R22555C	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15131C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15256C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21628C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24196C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15323C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22555	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATGACACGGAATATGTAT	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		21491	0.002		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72586-72588)Cgt>Tgt		titin							191.0	191.0	191.0					2																	179438273		1926	4126	6052	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438273G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67663C>T	2.37:g.179438273G>A	ENSP00000465570:p.Arg22555Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15131C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21628C|TTN_ENST00000359218.5_Missense_Mutation_p.R15256C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15323C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22555C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R24196C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72810	-			22555			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72586C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.32	1.605141	0.28623	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.08	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85813	0.5784	H	0.98295	4.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.91874	0.5510	9	0.87932	D	0	.	17.0057	0.86392	0.0:0.0:0.8718:0.1281	.	15131;15256;15323;22555	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	21628;15131;15323;15256;15129	ENSP00000343764:R21628C;ENSP00000434586:R15131C;ENSP00000340554:R15323C;ENSP00000352154:R15256C	ENSP00000340554:R15323C	R	-	1	0	TTN	179146519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.074000	0.76791	1.560000	0.49568	0.655000	0.94253	CGT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		95	136	0	0	0	1	0	95	136				
NECAP2	55707	broad.mit.edu	37	1	16782362	16782362	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782362C>A	ENST00000337132.5	+	7	807	c.717C>A	c.(715-717)atC>atA	p.I239I	NECAP2_ENST00000504551.2_Silent_p.I178I|NECAP2_ENST00000443980.2_Intron|NECAP2_ENST00000406746.1_Silent_p.I239I|NECAP2_ENST00000457722.2_Silent_p.I213I	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	239					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGACATCTGGGGAGACT	0.567																																						ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(715-717)atC>atA		NECAP endocytosis associated 2							61.0	59.0	60.0					1																	16782362		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16782362C>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.717C>A	1.37:g.16782362C>A						NECAP2_ENST00000457722.2_Silent_p.I213I|NECAP2_ENST00000443980.2_Intron|NECAP2_ENST00000406746.1_Silent_p.I239I|NECAP2_ENST00000504551.2_Silent_p.I178I	p.I239I	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	7	807	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	239					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.717C>A	CCDS173.1																																																																																				0.567	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		4	40	1	0	8.12818e-05	1	8.99451e-05	4	40				
ATP8B1	5205	broad.mit.edu	37	18	55328429	55328429	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55328429G>T	ENST00000283684.4	-	21	2683	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A895D|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	895					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACGTCATTGGCCCCATCTCC	0.567																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(2683-2685)gCc>gAc		ATPase, aminophospholipid transporter, class I, type 8B, member 1							89.0	71.0	77.0					18																	55328429		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55328429G>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2684C>A	18.37:g.55328429G>T	ENSP00000283684:p.Ala895Asp					RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A895D|RP11-35G9.3_ENST00000592201.1_RNA	p.A895D	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			22	2803	-		Colorectal(73;0.229)	895					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.2684C>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221251	0.79464	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.83250	-1.7;-1.7	5.7	4.81	0.61882	HAD-like domain (2);	0.098405	0.64402	D	0.000001	D	0.94335	0.8179	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96235	0.9171	10	0.87932	D	0	.	15.5671	0.76303	0.0:0.0:0.8607:0.1393	.	895	O43520	AT8B1_HUMAN	D	895	ENSP00000283684:A895D;ENSP00000445359:A895D	ENSP00000283684:A895D	A	-	2	0	ATP8B1	53479427	1.000000	0.71417	0.911000	0.35937	0.644000	0.38419	9.813000	0.99286	1.377000	0.46286	0.557000	0.71058	GCC		0.567	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		12	23	1	0	1.5842e-08	1	1.90059e-08	12	23				
ORC1	4998	broad.mit.edu	37	1	52861730	52861730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52861730G>A	ENST00000371568.3	-	5	927	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	ORC1_ENST00000371566.1_Silent_p.L237L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	237					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAAGCTCCAGCCTCTTTCTG	0.468																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(709-711)Ctg>Ttg		origin recognition complex, subunit 1							89.0	90.0	90.0					1																	52861730		2203	4300	6503	SO:0001819	synonymous_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52861730G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.709C>T	1.37:g.52861730G>A						ORC1_ENST00000371566.1_Silent_p.L237L	p.L237L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			5	927	-			237					D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.709C>T	CCDS566.1																																																																																				0.468	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		17	29	0	0	0	1	0	17	29				
PHF20L1	51105	broad.mit.edu	37	8	133816941	133816941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133816941G>A	ENST00000395386.2	+	8	1102	c.803G>A	c.(802-804)gGc>gAc	p.G268D	PHF20L1_ENST00000395376.1_Missense_Mutation_p.G273D|PHF20L1_ENST00000395379.1_Missense_Mutation_p.G268D|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.G242D|PHF20L1_ENST00000395390.2_Missense_Mutation_p.G243D	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	268							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATAATCAAGGCAACTCGTTT	0.383																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(802-804)gGc>gAc		PHD finger protein 20-like 1							110.0	105.0	107.0					8																	133816941		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133816941G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.803G>A	8.37:g.133816941G>A	ENSP00000378784:p.Gly268Asp					PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_Missense_Mutation_p.G268D|PHF20L1_ENST00000395374.1_Missense_Mutation_p.G107D|PHF20L1_ENST00000395382.3_Missense_Mutation_p.G138D|PHF20L1_ENST00000395390.2_Missense_Mutation_p.G243D|PHF20L1_ENST00000337920.4_Missense_Mutation_p.G242D|PHF20L1_ENST00000395376.1_Missense_Mutation_p.G273D|PHF20L1_ENST00000395379.1_Missense_Mutation_p.G268D|PHF20L1_ENST00000395383.1_Missense_Mutation_p.G272D	p.G268D	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		8	1102	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		268					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.803G>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664108	0.67700	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.60797	0.2;0.31;0.16;0.96;0.16;0.23;0.32;0.99	5.5	5.5	0.81552	.	0.414201	0.28742	N	0.014299	T	0.64260	0.2582	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.992	D;D;D;D;P	0.85130	0.983;0.981;0.997;0.988;0.856	T	0.64592	-0.6371	10	0.48119	T	0.1	-10.2778	14.0363	0.64646	0.0:0.1509:0.8491:0.0	.	243;107;268;268;242	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	D	272;268;243;268;268;242;273;138;243;107	ENSP00000378781:G272D;ENSP00000378777:G268D;ENSP00000355301:G243D;ENSP00000378784:G268D;ENSP00000324519:G268D;ENSP00000338269:G242D;ENSP00000378775:G273D;ENSP00000378788:G243D	ENSP00000324519:G268D	G	+	2	0	PHF20L1	133886123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.685000	0.61693	2.596000	0.87737	0.585000	0.79938	GGC		0.383	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		38	59	0	0	0	1	0	38	59				
ATXN7	6314	broad.mit.edu	37	3	63973906	63973906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973906C>T	ENST00000295900.6	+	9	1817	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000398590.3_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000484332.1_Nonsense_Mutation_p.Q278*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q423*	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	423	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TAGAACGTCACAGGAGCCGCA	0.532																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1267-1269)Cag>Tag		ataxin 7							104.0	117.0	113.0					3																	63973906		1934	4129	6063	SO:0001587	stop_gained	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973906C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1267C>T	3.37:g.63973906C>T	ENSP00000295900:p.Gln423*					ATXN7_ENST00000484332.1_Nonsense_Mutation_p.Q278*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000295900.6_Nonsense_Mutation_p.Q423*	p.Q423*	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1820	+		Prostate(884;0.0181)	423			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Nonsense_Mutation	SNP	ENST00000295900.6	37	c.1267C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	44	10.844443	0.99477	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	.	.	.	5.95	5.05	0.67936	.	0.335390	0.33180	N	0.005192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.012	17.2823	0.87132	0.0:0.8752:0.1248:0.0	.	.	.	.	X	423;423;423;423;278	.	ENSP00000295900:Q423X	Q	+	1	0	ATXN7	63948946	1.000000	0.71417	0.906000	0.35671	0.981000	0.71138	5.468000	0.66743	2.824000	0.97209	0.655000	0.94253	CAG		0.532	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		14	119	0	0	0	1	0	14	119				
KIAA1462	57608	broad.mit.edu	37	10	30316836	30316836	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30316836G>T	ENST00000375377.1	-	3	2342	c.2241C>A	c.(2239-2241)gcC>gcA	p.A747A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	747					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGTTACGGGCACTTGGCC	0.572																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2239-2241)gcC>gcA		KIAA1462							52.0	55.0	54.0					10																	30316836		2127	4240	6367	SO:0001819	synonymous_variant	57608							g.chr10:30316836G>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2241C>A	10.37:g.30316836G>T							p.A747A	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2342	-			747					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2241C>A	CCDS41500.1																																																																																				0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		5	40	1	0	5.18039e-06	1	5.91835e-06	5	40				
DPY19L1	23333	broad.mit.edu	37	7	34987268	34987268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34987268C>T	ENST00000310974.4	-	15	1393	c.1249G>A	c.(1249-1251)Gta>Ata	p.V417I		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	417						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ACAAACACTACAAGAACAACT	0.299																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1249-1251)Gta>Ata		dpy-19-like 1 (C. elegans)							77.0	81.0	79.0					7																	34987268		2172	4289	6461	SO:0001583	missense	23333					integral to membrane		g.chr7:34987268C>T	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1249G>A	7.37:g.34987268C>T	ENSP00000308695:p.Val417Ile						p.V417I	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			15	1393	-			417					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.1249G>A	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284649	0.23392	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.55760	0.5;0.5	5.28	1.37	0.22104	.	0.454073	0.23682	N	0.045607	T	0.33702	0.0872	L	0.36672	1.1	0.27814	N	0.942042	B	0.02656	0.0	B	0.08055	0.003	T	0.15206	-1.0445	10	0.15499	T	0.54	-6.911	5.2911	0.15727	0.0:0.6071:0.149:0.2439	.	417	Q2PZI1	D19L1_HUMAN	I	417;187	ENSP00000308695:V417I;ENSP00000400510:V187I	ENSP00000308695:V417I	V	-	1	0	DPY19L1	34953793	0.001000	0.12720	0.058000	0.19502	0.976000	0.68499	-0.046000	0.11983	0.299000	0.22661	0.467000	0.42956	GTA		0.299	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			4	80	0	0	0	1	0	4	80				
SLC44A2	57153	broad.mit.edu	37	19	10742775	10742775	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10742775C>A	ENST00000335757.5	+	10	1142	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	SLC44A2_ENST00000407327.4_Missense_Mutation_p.L254M|SLC44A2_ENST00000586078.1_Missense_Mutation_p.L256M			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	256					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCTTCGCTTCCTGGCTGGTAT	0.552																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(766-768)Ctg>Atg		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						282.0	243.0	256.0					19																	10742775		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742775C>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.766C>A	19.37:g.10742775C>A	ENSP00000336888:p.Leu256Met					SLC44A2_ENST00000407327.4_Missense_Mutation_p.L254M|SLC44A2_ENST00000335757.5_Missense_Mutation_p.L256M	p.L256M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		10	875	+			256					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.766C>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621215	0.46736	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.11930	2.73;2.73	4.91	1.5	0.22942	.	0.599272	0.16950	N	0.192959	T	0.17831	0.0428	M	0.69823	2.125	0.38774	D	0.954614	B;B	0.25521	0.078;0.128	B;B	0.38378	0.119;0.272	T	0.10291	-1.0636	10	0.56958	D	0.05	.	2.3566	0.04297	0.1518:0.5243:0.1477:0.1762	.	256;254	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	M	254;256;256	ENSP00000385135:L254M;ENSP00000336888:L256M	ENSP00000336888:L256M	L	+	1	2	SLC44A2	10603775	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.456000	0.35201	0.112000	0.17975	0.442000	0.29010	CTG		0.552	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			11	143	1	0	0.010729	1	0.0111717	11	143				
SPNS1	83985	broad.mit.edu	37	16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28990543C>T	ENST00000311008.11	+	4	889	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.4_ENST00000567209.1_RNA|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V|SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	171					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(511-513)gCg>gTg		spinster homolog 1 (Drosophila)							60.0	62.0	62.0					16																	28990543		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28990543C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.512C>T	16.37:g.28990543C>T	ENSP00000309945:p.Ala171Val					SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V|SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V|SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V	p.A171V	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			4	889	+			171					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.512C>T	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680748	0.68042	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.78801	2.425	0.80722	D	1	P;D;P;D;D	0.76494	0.942;0.989;0.867;0.999;0.998	P;P;P;D;D	0.66979	0.711;0.784;0.821;0.939;0.948	T	0.78848	-0.2042	10	0.87932	D	0	.	14.3725	0.66849	0.0:1.0:0.0:0.0	.	98;149;171;171;171	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;.;SPNS1_HUMAN;.;.	V	171;171;149;98	ENSP00000309945:A171V;ENSP00000335494:A171V;ENSP00000306050:A149V;ENSP00000318228:A98V	ENSP00000309945:A171V	A	+	2	0	SPNS1	28898044	1.000000	0.71417	0.970000	0.41538	0.024000	0.10985	7.271000	0.78506	2.261000	0.74972	0.561000	0.74099	GCG		0.657	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		21	48	0	0	0	1	0	21	48				
EGLN2	112398	broad.mit.edu	37	19	41306600	41306600	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41306600C>A	ENST00000593726.1	+	1	1151	c.123C>A	c.(121-123)ccC>ccA	p.P41P	EGLN2_ENST00000303961.4_Silent_p.P41P|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.P41P|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	41					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GTTACCTGCCCTGTCCCCTGC	0.652																																						ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(121-123)ccC>ccA		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						55.0	47.0	50.0					19																	41306600		2203	4300	6503	SO:0001819	synonymous_variant	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41306600C>A	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.123C>A	19.37:g.41306600C>A						EGLN2_ENST00000406058.2_Silent_p.P41P|EGLN2_ENST00000303961.4_Silent_p.P41P|RAB4B-EGLN2_ENST00000594136.1_3'UTR	p.P41P			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1151	+			41					A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	ENST00000593726.1	37	c.123C>A	CCDS12567.1																																																																																				0.652	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			4	24	1	0	0.00909568	1	0.00947522	4	24				
OTUD4	54726	broad.mit.edu	37	4	146092833	146092833	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146092833C>T	ENST00000447906.2	-	3	470	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	OTUD4_ENST00000454497.2_Missense_Mutation_p.E30K|OTUD4_ENST00000296579.6_Missense_Mutation_p.E30K|OTUD4_ENST00000509620.2_Missense_Mutation_p.E30K|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	95	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGTGGATTTTCCAAACGCTTT	0.254																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(88-90)Gaa>Aaa		OTU domain containing 4							41.0	46.0	44.0					4																	146092833		2197	4289	6486	SO:0001583	missense	54726						protein binding	g.chr4:146092833C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.283G>A	4.37:g.146092833C>T	ENSP00000395487:p.Glu95Lys					OTUD4_ENST00000447906.2_Missense_Mutation_p.E95K|OTUD4_ENST00000509620.2_Missense_Mutation_p.E30K|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000296579.6_Missense_Mutation_p.E30K	p.E30K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			3	225	-	all_hematologic(180;0.151)		95					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.88G>A		.	.	.	.	.	.	.	.	.	.	C	15.97	2.989027	0.53934	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973;ENST00000509620;ENST00000296579;ENST00000504501	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.67	4.82	0.62117	Ovarian tumour, otubain (2);	0.000000	0.51477	D	0.000084	T	0.30727	0.0774	L	0.28115	0.83	0.39523	D	0.968542	B;P	0.35272	0.437;0.493	B;B	0.33620	0.104;0.167	T	0.09796	-1.0658	10	0.10902	T	0.67	-20.9671	11.6595	0.51339	0.0:0.9148:0.0:0.0852	.	95;95	G3V0I6;Q01804	.;OTUD4_HUMAN	K	30;95;30;30;30;30	ENSP00000409279:E30K;ENSP00000395487:E95K;ENSP00000425972:E30K;ENSP00000424192:E30K;ENSP00000296579:E30K;ENSP00000423453:E30K	ENSP00000296579:E30K	E	-	1	0	OTUD4	146312283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.232000	0.43018	2.673000	0.90976	0.557000	0.71058	GAA		0.254	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		10	25	0	0	0	1	0	10	25				
XIAP	331	broad.mit.edu	37	X	123025089	123025089	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123025089T>C	ENST00000371199.3	+	4	1278	c.979T>C	c.(979-981)Tgc>Cgc	p.C327R	XIAP_ENST00000434753.3_Splice_Site_p.C327R|XIAP_ENST00000355640.3_Splice_Site_p.C327R|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	327					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATTGTTTAGGTGCAAATATCT	0.259									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.e4-1		X-linked inhibitor of apoptosis							31.0	31.0	31.0					X																	123025089		2171	4241	6412	SO:0001630	splice_region_variant	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123025089T>C	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.978-1T>C	X.37:g.123025089T>C						XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Splice_Site_p.C327_splice|XIAP_ENST00000355640.3_Splice_Site_p.C327_splice	p.C327_splice	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			4	1278	+			327					D3DTF2|Q9NQ14	Splice_Site	SNP	ENST00000371199.3	37	c.977_splice	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594082	0.66219	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.72394	-0.65;-0.65;-0.65	5.07	5.07	0.68467	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.64402	D	0.000001	D	0.90304	0.6967	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93800	0.7100	10	0.87932	D	0	-23.1473	13.8198	0.63313	0.0:0.0:0.0:1.0	.	327	P98170	XIAP_HUMAN	R	327	ENSP00000395230:C327R;ENSP00000360242:C327R;ENSP00000347858:C327R	ENSP00000347858:C327R	C	+	1	0	XIAP	122852770	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.139000	0.71728	1.788000	0.52465	0.486000	0.48141	TGC		0.259	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167	Missense_Mutation	3	33	0	0	0	1	0	3	33				
SLC19A1	6573	broad.mit.edu	37	21	46951793	46951793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46951793G>A	ENST00000311124.4	-	3	611	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC19A1_ENST00000567670.1_Silent_p.A153A|SLC19A1_ENST00000380010.4_Silent_p.A153A|SLC19A1_ENST00000485649.2_Silent_p.A113A	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	153					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GCGAGTAGCCGGCCACACGCT	0.652																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(457-459)gcC>gcT		solute carrier family 19 (folate transporter), member 1							30.0	24.0	26.0					21																	46951793		2174	4279	6453	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951793G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.459C>T	21.37:g.46951793G>A						SLC19A1_ENST00000485649.2_Silent_p.A113A|SLC19A1_ENST00000380010.4_Silent_p.A153A|SLC19A1_ENST00000567670.1_Silent_p.A153A	p.A153A	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	611	-			153					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.459C>T	CCDS13725.1																																																																																				0.652	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			2	1	0	0	0	1	0	2	1				
SV2A	9900	broad.mit.edu	37	1	149880744	149880744	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149880744C>A	ENST00000369146.3	-	8	1869	c.1379G>T	c.(1378-1380)aGc>aTc	p.S460I	SV2A_ENST00000369145.1_Splice_Site_p.S460I	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	460					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATCTCCTCACCTGAATGACAT	0.557																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.e8+1		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						528.0	412.0	451.0					1																	149880744		2203	4300	6503	SO:0001630	splice_region_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149880744C>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1379+1G>T	1.37:g.149880744C>A						SV2A_ENST00000369145.1_Splice_Site_p.S460_splice	p.S460_splice	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		8	1869	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		460					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Splice_Site	SNP	ENST00000369146.3	37	c.1379_splice	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322964	0.81580	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.76316	-1.01;-1.01	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.147306	0.64402	D	0.000012	D	0.83557	0.5280	M	0.83483	2.645	0.80722	D	1	P	0.50443	0.935	P	0.56788	0.806	D	0.84745	0.0753	9	.	.	.	-14.6983	15.3729	0.74581	0.0:1.0:0.0:0.0	.	460	Q7L0J3	SV2A_HUMAN	I	460	ENSP00000358142:S460I;ENSP00000358141:S460I	.	S	-	2	0	SV2A	148147368	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.281000	0.78621	2.492000	0.84095	0.491000	0.48974	AGC		0.557	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		Missense_Mutation	5	45	1	0	0.217242	1	0.218821	5	45				
ANK3	288	broad.mit.edu	37	10	61829138	61829138	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61829138A>G	ENST00000280772.2	-	37	11692	c.11501T>C	c.(11500-11502)gTa>gCa	p.V3834A	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3834					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTTGTAGTACCCCTGTCTT	0.383																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11500-11502)gTa>gCa		ankyrin 3, node of Ranvier (ankyrin G)							259.0	256.0	257.0					10																	61829138		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829138A>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11501T>C	10.37:g.61829138A>G	ENSP00000280772:p.Val3834Ala					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.V3834A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11692	-			3834					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11501T>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.578266	0.00879	.	.	ENSG00000151150	ENST00000280772	T	0.16457	2.34	4.7	2.0	0.26442	.	0.882556	0.09359	N	0.813004	T	0.06096	0.0158	N	0.03608	-0.345	0.21184	N	0.999766	B	0.02656	0.0	B	0.01281	0.0	T	0.42783	-0.9431	10	0.09590	T	0.72	.	4.8881	0.13713	0.4869:0.0:0.5131:0.0	.	3834	Q12955	ANK3_HUMAN	A	3834	ENSP00000280772:V3834A	ENSP00000280772:V3834A	V	-	2	0	ANK3	61499144	0.010000	0.17322	0.244000	0.24202	0.986000	0.74619	1.760000	0.38430	0.751000	0.32900	-0.263000	0.10527	GTA		0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		17	241	0	0	0	1	0	17	241				
ANKRD32	84250	broad.mit.edu	37	5	94024299	94024299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94024299G>A	ENST00000265140.5	+	17	2629	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	737						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGCGGCCTTGTTTTGACTCT	0.428																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2209-2211)tGt>tAt		ankyrin repeat domain 32							112.0	113.0	113.0					5																	94024299		2203	4300	6503	SO:0001583	missense	84250							g.chr5:94024299G>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2210G>A	5.37:g.94024299G>A	ENSP00000265140:p.Cys737Tyr						p.C737Y	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	17	2629	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	737					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2210G>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966433	0.53507	.	.	ENSG00000133302	ENST00000265140	T	0.44083	0.93	5.36	4.43	0.53597	.	0.374393	0.28933	N	0.013666	T	0.26048	0.0635	L	0.27053	0.805	0.39333	D	0.96545	B	0.34181	0.44	B	0.31191	0.125	T	0.07868	-1.0750	10	0.05959	T	0.93	.	15.1498	0.72689	0.0:0.0:0.8581:0.1418	.	737	Q9BQI6	ANR32_HUMAN	Y	737	ENSP00000265140:C737Y	ENSP00000265140:C737Y	C	+	2	0	ANKRD32	94050055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.057000	0.49931	2.667000	0.90743	0.585000	0.79938	TGT		0.428	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		13	96	0	0	0	1	0	13	96				
EZR	7430	broad.mit.edu	37	6	159190828	159190828	+	Silent	SNP	G	G	A	rs145874025		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159190828G>A	ENST00000367075.3	-	11	1407	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	EZR_ENST00000337147.7_Silent_p.S413S|EZR_ENST00000392177.4_Silent_p.S381S	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	413	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCTCCTGGCTCTTTATCT	0.542			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1237-1239)agC>agT		ezrin		G	,	0,4406		0,0,2203	123.0	124.0	124.0		1239,1239	5.4	1.0	6	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EZR	NM_001111077.1,NM_003379.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	413/587,413/587	159190828	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159190828G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1239C>T	6.37:g.159190828G>A						EZR_ENST00000337147.7_Silent_p.S413S|EZR_ENST00000392177.4_Silent_p.S381S	p.S413S	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	11	1407	-		Breast(66;0.000776)|Ovarian(120;0.0303)	413			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	c.1239C>T	CCDS5258.1																																																																																				0.542	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		37	94	0	0	0	1	0	37	94				
OR51E2	81285	broad.mit.edu	37	11	4703653	4703653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4703653G>T	ENST00000396950.3	-	2	528	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	97					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATCTGGGTAAGACAGGCCTCA	0.517																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(289-291)Ctt>Att		olfactory receptor, family 51, subfamily E, member 2							73.0	62.0	66.0					11																	4703653		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703653G>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.289C>A	11.37:g.4703653G>T	ENSP00000380153:p.Leu97Ile						p.L97I	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	528	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	97					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.289C>A	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091318	0.20471	.	.	ENSG00000167332	ENST00000396950	T	0.00344	8.02	5.0	0.707	0.18139	GPCR, rhodopsin-like superfamily (1);	0.968202	0.08438	N	0.945809	T	0.00271	0.0008	L	0.53780	1.695	0.09310	N	1	B	0.14012	0.009	B	0.23852	0.049	T	0.30297	-0.9983	10	0.36615	T	0.2	.	5.5067	0.16858	0.164:0.0:0.3517:0.4843	.	97	Q9H255	O51E2_HUMAN	I	97	ENSP00000380153:L97I	ENSP00000380153:L97I	L	-	1	0	OR51E2	4660229	0.015000	0.18098	0.009000	0.14445	0.932000	0.56968	-0.338000	0.07842	-0.038000	0.13624	-0.262000	0.10625	CTT		0.517	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		5	35	1	0	1.23904e-05	1	1.39987e-05	5	35				
BRWD1	54014	broad.mit.edu	37	21	40670402	40670402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40670402G>T	ENST00000333229.2	-	5	632	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	BRWD1_ENST00000380800.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000341322.4_Missense_Mutation_p.S102Y|BRWD1_ENST00000342449.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000470108.1_5'UTR	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	102					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S102Y(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCAAGTAAAGAAGTGACTCT	0.388																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			2	Substitution - Missense(2)	p.S102Y(2)	large_intestine(2)	cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(304-306)tCt>tAt		bromodomain and WD repeat domain containing 1							123.0	131.0	129.0					21																	40670402		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40670402G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.305C>A	21.37:g.40670402G>T	ENSP00000330753:p.Ser102Tyr					BRWD1_ENST00000341322.4_Missense_Mutation_p.S102Y|BRWD1_ENST00000333229.2_Missense_Mutation_p.S102Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000470108.1_5'UTR	p.S102Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			5	383	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	102					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.305C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422114	0.83559	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.51550	0.1681	M	0.81497	2.545	0.50313	D	0.999862	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74023	0.964;0.982;0.972	T	0.55354	-0.8154	10	0.87932	D	0	-10.0094	19.4966	0.95075	0.0:0.0:1.0:0.0	.	102;102;102	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	Y	102	ENSP00000330753:S102Y;ENSP00000344333:S102Y;ENSP00000370178:S102Y;ENSP00000342106:S102Y	ENSP00000330753:S102Y	S	-	2	0	BRWD1	39592272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.623000	0.88846	0.467000	0.42956	TCT		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		9	165	1	0	0.0581538	1	0.0593651	9	165				
POMT1	10585	broad.mit.edu	37	9	134398374	134398374	+	Missense_Mutation	SNP	G	G	A	rs535544133		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134398374G>A	ENST00000372228.3	+	20	2304	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	POMT1_ENST00000423007.1_Missense_Mutation_p.A687T|POMT1_ENST00000404875.2_Missense_Mutation_p.A570T|POMT1_ENST00000354713.4_Missense_Mutation_p.A657T|POMT1_ENST00000341012.7_Missense_Mutation_p.A633T|POMT1_ENST00000402686.3_Missense_Mutation_p.A687T|POMT1_ENST00000541219.1_Missense_Mutation_p.A427T|UCK1_ENST00000459858.1_5'Flank|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000419118.2_Missense_Mutation_p.A535T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	709					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTACTCCTCCGCGTGCCACGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16790	0.001		0.0	False		,,,				2504	0.0					ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(2059-2061)Gcg>Acg		protein-O-mannosyltransferase 1							66.0	50.0	56.0					9																	134398374		2201	4300	6501	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134398374G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.2125G>A	9.37:g.134398374G>A	ENSP00000361302:p.Ala709Thr					POMT1_ENST00000341012.7_Missense_Mutation_p.A633T|POMT1_ENST00000419118.2_Missense_Mutation_p.A535T|POMT1_ENST00000372228.3_Missense_Mutation_p.A709T|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000354713.4_Missense_Mutation_p.A657T|POMT1_ENST00000402686.3_Missense_Mutation_p.A687T|POMT1_ENST00000404875.2_Missense_Mutation_p.A570T|POMT1_ENST00000541219.1_Missense_Mutation_p.A427T	p.A687T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	20	2501	+		Myeloproliferative disorder(178;0.204)	709					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.2059G>A	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307296	0.23821	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;T;D;D;D	0.89746	-1.58;-1.58;-1.57;-1.59;-1.58;-1.43;-1.54;-1.58;-2.56	5.11	5.11	0.69529	.	0.509864	0.21164	N	0.079109	D	0.85327	0.5671	L	0.43152	1.355	0.09310	N	1	P;P;P;P	0.50819	0.8;0.622;0.847;0.939	B;B;B;B	0.39465	0.217;0.121;0.089;0.3	T	0.80854	-0.1196	10	0.54805	T	0.06	-36.438	17.5246	0.87796	0.0:0.0:1.0:0.0	.	657;427;709;687	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	T	687;570;633;709;687;535;427;657;308	ENSP00000404119:A687T;ENSP00000384531:A570T;ENSP00000343034:A633T;ENSP00000361302:A709T;ENSP00000385797:A687T;ENSP00000403032:A535T;ENSP00000440895:A427T;ENSP00000346748:A657T;ENSP00000361294:A308T	ENSP00000343034:A633T	A	+	1	0	POMT1	133388195	1.000000	0.71417	0.044000	0.18714	0.022000	0.10575	3.960000	0.56752	2.392000	0.81423	0.561000	0.74099	GCG		0.637	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		9	5	0	0	0	1	0	9	5				
MYOC	4653	broad.mit.edu	37	1	171605812	171605812	+	Silent	SNP	C	C	T	rs142461632		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171605812C>T	ENST00000037502.6	-	3	839	c.768G>A	c.(766-768)acG>acA	p.T256T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	256	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGTTCTCAGCGTGAGAGGCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18992	0.001		0.0	False		,,,				2504	0.0					ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(766-768)acG>acA		myocilin, trabecular meshwork inducible glucocorticoid response							88.0	93.0	91.0					1																	171605812		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605812C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.768G>A	1.37:g.171605812C>T							p.T256T	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	827	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		256			Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.768G>A	CCDS1297.1																																																																																				0.478	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		6	80	0	0	0	1	0	6	80				
ACVR1C	130399	broad.mit.edu	37	2	158395160	158395160	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158395160C>T	ENST00000243349.8	-	8	1641	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	ACVR1C_ENST00000348328.5_Silent_p.S270S|ACVR1C_ENST00000409680.3_Silent_p.S377S|ACVR1C_ENST00000335450.7_Silent_p.S347S	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCCTCTATCGAGGGATCTG	0.363																																						ENST00000243349.7																			1	Substitution - coding silent(1)	p.S427S(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1279-1281)tcG>tcA		activin A receptor, type IC							107.0	107.0	107.0					2																	158395160		2203	4300	6503	SO:0001819	synonymous_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158395160C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1281G>A	2.37:g.158395160C>T						ACVR1C_ENST00000335450.7_Silent_p.S347S|ACVR1C_ENST00000409680.3_Silent_p.S377S|ACVR1C_ENST00000348328.5_Silent_p.S270S	p.S427S	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			8	1641	-			427			Protein kinase.			Silent	SNP	ENST00000243349.8	37	c.1281G>A	CCDS2205.1																																																																																				0.363	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		31	62	0	0	0	1	0	31	62				
NPAP1	23742	broad.mit.edu	37	15	24922006	24922006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:24922006C>T	ENST00000329468.2	+	1	1466	c.992C>T	c.(991-993)tCg>tTg	p.S331L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	331	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S331L(1)									AGGAAAATGTCGATTCCATTG	0.582																																						ENST00000329468.2																			1	Substitution - Missense(1)	p.S331L(1)	endometrium(1)								c.(991-993)tCg>tTg		nuclear pore associated protein 1							51.0	50.0	50.0					15																	24922006		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922006C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.992C>T	15.37:g.24922006C>T	ENSP00000333735:p.Ser331Leu						p.S331L	NM_018958.2	NP_061831.2					1	1466	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.992C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.50	1.957911	0.34565	.	.	ENSG00000185823	ENST00000329468	T	0.08008	3.14	1.33	1.33	0.21861	.	.	.	.	.	T	0.06508	0.0167	L	0.29908	0.895	0.09310	N	1	D	0.57257	0.979	B	0.43990	0.438	T	0.36456	-0.9747	9	0.31617	T	0.26	.	6.039	0.19724	0.0:1.0:0.0:0.0	.	331	Q9NZP6	CO002_HUMAN	L	331	ENSP00000333735:S331L	ENSP00000333735:S331L	S	+	2	0	C15orf2	22473099	0.000000	0.05858	0.001000	0.08648	0.912000	0.54170	-0.323000	0.07997	1.068000	0.40764	0.313000	0.20887	TCG		0.582	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		17	26	0	0	0	1	0	17	26				
PCSK5	5125	broad.mit.edu	37	9	78710934	78710934	+	Silent	SNP	C	C	T	rs370286991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78710934C>T	ENST00000545128.1	+	8	1561	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	PCSK5_ENST00000376752.4_Silent_p.S341S|PCSK5_ENST00000376767.3_Silent_p.S341S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	341	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAGAAAGCGGAAAGAAAC	0.512																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1021-1023)agC>agT		proprotein convertase subtilisin/kexin type 5		C	,	1,4405	2.1+/-5.4	0,1,2202	165.0	132.0	143.0		1023,1023	-11.5	0.2	9		143	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCSK5	NM_001190482.1,NM_006200.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	341/1861,341/914	78710934	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78710934C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1023C>T	9.37:g.78710934C>T						PCSK5_ENST00000376767.3_Silent_p.S341S|PCSK5_ENST00000376752.4_Silent_p.S341S	p.S341S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			8	1561	+			341			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.1023C>T	CCDS55320.1																																																																																				0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	32	0	0	0	1	0	17	32				
TIAM2	26230	broad.mit.edu	37	6	155458711	155458711	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155458711G>A	ENST00000461783.3	+	7	2868	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	TIAM2_ENST00000529824.2_Missense_Mutation_p.R532Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R532Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R532Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R532Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	532	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGGTGGCACGAAGGAAATGG	0.572																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1594-1596)cGa>cAa		T-cell lymphoma invasion and metastasis 2							71.0	74.0	73.0					6																	155458711		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458711G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1595G>A	6.37:g.155458711G>A	ENSP00000437188:p.Arg532Gln					TIAM2_ENST00000456144.1_Missense_Mutation_p.R532Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R532Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R532Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.R532Q	p.R532Q			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2868	+		Ovarian(120;0.196)	532			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1595G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662895	0.96734	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.82076	-0.0636	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	532;532	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	Q	532;778;532;532;532;532;532	ENSP00000437188:R532Q;ENSP00000434901:R532Q;ENSP00000407746:R532Q;ENSP00000327315:R532Q;ENSP00000353528:R532Q;ENSP00000433348:R532Q	ENSP00000327315:R532Q	R	+	2	0	TIAM2	155500403	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGA		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		16	33	0	0	0	1	0	16	33				
SLC10A6	345274	broad.mit.edu	37	4	87769930	87769930	+	Silent	SNP	G	G	A	rs369966485		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87769930G>A	ENST00000273905.6	-	1	486	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	113					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGGTGAAAATGTTAGAGATGG	0.493																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(337-339)aaC>aaT		solute carrier family 10 (sodium/bile acid cotransporter), member 6							77.0	84.0	81.0					4																	87769930		2203	4300	6503	SO:0001819	synonymous_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87769930G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.339C>T	4.37:g.87769930G>A						SLC10A6_ENST00000505535.1_5'UTR	p.N113N	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	486	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	113					Q70EX7	Silent	SNP	ENST00000273905.6	37	c.339C>T	CCDS3614.1																																																																																				0.493	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		9	109	0	0	0	1	0	9	109				
USP20	10868	broad.mit.edu	37	9	132636916	132636916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132636916G>T	ENST00000315480.4	+	18	1960	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	USP20_ENST00000358355.1_Missense_Mutation_p.S601I|USP20_ENST00000372429.3_Missense_Mutation_p.S601I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	601	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAGATCAACAGCCACGTCTCC	0.577																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1801-1803)aGc>aTc		ubiquitin specific peptidase 20							73.0	81.0	78.0					9																	132636916		2126	4230	6356	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132636916G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1802G>T	9.37:g.132636916G>T	ENSP00000313811:p.Ser601Ile					USP20_ENST00000358355.1_Missense_Mutation_p.S601I|USP20_ENST00000372429.3_Missense_Mutation_p.S601I	p.S601I			Q9Y2K6	UBP20_HUMAN			18	1960	+		Ovarian(14;0.00556)	601					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1802G>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111454	0.77210	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.32023	1.47;1.47;1.47	5.06	3.22	0.36961	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.038820	0.85682	D	0.000000	T	0.46444	0.1393	L	0.47078	1.49	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.38542	-0.9656	10	0.87932	D	0	.	11.7766	0.51989	0.1113:0.0:0.8887:0.0	.	601	Q9Y2K6	UBP20_HUMAN	I	601	ENSP00000361506:S601I;ENSP00000313811:S601I;ENSP00000351122:S601I	ENSP00000313811:S601I	S	+	2	0	USP20	131676737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.164000	0.71885	0.510000	0.28216	0.650000	0.86243	AGC		0.577	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			10	32	1	0	0.00136819	1	0.00146042	10	32				
PLXNB3	5365	broad.mit.edu	37	X	153037429	153037429	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037429G>A	ENST00000361971.5	+	15	2742	c.2628G>A	c.(2626-2628)cgG>cgA	p.R876R	PLXNB3_ENST00000538282.1_Silent_p.R486R|PLXNB3_ENST00000538966.1_Silent_p.R899R|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538776.1_Silent_p.R529R	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	876	IPT/TIG 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCCGGCCCTGCAACC	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2695-2697)cgG>cgA		plexin B3							39.0	36.0	37.0					X																	153037429		2196	4293	6489	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153037429G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2628G>A	X.37:g.153037429G>A						PLXNB3_ENST00000361971.5_Silent_p.R876R|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538776.1_Silent_p.R529R|PLXNB3_ENST00000538282.1_Silent_p.R486R	p.R899R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			16	2968	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		876			IPT/TIG 1.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.2697G>A	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			20	20	0	0	0	1	0	20	20				
PRRC2A	7916	broad.mit.edu	37	6	31599927	31599927	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31599927A>G	ENST00000376033.2	+	16	3711	c.3477A>G	c.(3475-3477)cgA>cgG	p.R1159R	PRRC2A_ENST00000376007.4_Silent_p.R1159R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1159	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGGTGGGCGAGTCTTCACTC	0.692																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(3475-3477)cgA>cgG		proline-rich coiled-coil 2A							25.0	33.0	31.0					6																	31599927		1509	2705	4214	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31599927A>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3477A>G	6.37:g.31599927A>G						PRRC2A_ENST00000376007.4_Silent_p.R1159R	p.R1159R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3711	+			1159			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.3477A>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	8.675	0.903859	0.17760	.	.	ENSG00000204469	ENST00000424184;ENST00000435052	.	.	.	5.29	-3.14	0.05250	.	.	.	.	.	T	0.37705	0.1013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52881	-0.8516	5	0.87932	D	0	-8.021	1.589	0.02650	0.2146:0.2162:0.0868:0.4825	.	.	.	.	G	1156;1145	.	ENSP00000407986:E1156G	E	+	2	0	PRRC2A	31707906	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	-2.064000	0.01387	-0.195000	0.10382	0.533000	0.62120	GAG		0.692	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		3	34	0	0	0	1	0	3	34				
LMLN	89782	broad.mit.edu	37	3	197702952	197702952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197702952G>A	ENST00000330198.4	+	4	423	c.401G>A	c.(400-402)cGt>cAt	p.R134H	LMLN_ENST00000482695.1_Missense_Mutation_p.R82H|LMLN_ENST00000420910.2_Missense_Mutation_p.R134H|LMLN_ENST00000332636.5_Missense_Mutation_p.R82H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	134					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTCAGGTCCGTCGACCTGCG	0.363																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(400-402)cGt>cAt		leishmanolysin-like (metallopeptidase M8 family)							56.0	56.0	56.0					3																	197702952		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197702952G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.401G>A	3.37:g.197702952G>A	ENSP00000328829:p.Arg134His					LMLN_ENST00000482695.1_Missense_Mutation_p.R82H|LMLN_ENST00000420910.2_Missense_Mutation_p.R134H|LMLN_ENST00000332636.5_Missense_Mutation_p.R82H	p.R134H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	4	423	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	134					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.401G>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625413	0.87560	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.61	5.61	0.85477	.	0.058659	0.64402	D	0.000004	T	0.71863	0.3390	M	0.85373	2.75	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.993	T	0.75252	-0.3383	10	0.87932	D	0	-14.0782	15.0733	0.72056	0.0:0.0:1.0:0.0	.	134;82;134;82	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	H	82;134;62;134;82	ENSP00000418324:R82H;ENSP00000328829:R134H;ENSP00000390872:R62H;ENSP00000410926:R134H;ENSP00000328611:R82H	ENSP00000328829:R134H	R	+	2	0	LMLN	199187349	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	5.379000	0.66196	2.937000	0.99478	0.650000	0.86243	CGT		0.363	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		19	13	0	0	0	1	0	19	13				
RGS3	5998	broad.mit.edu	37	9	116285291	116285291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116285291C>A	ENST00000374140.2	+	18	2049	c.1840C>A	c.(1840-1842)Ctc>Atc	p.L614I	RGS3_ENST00000343817.5_Missense_Mutation_p.L333I|RGS3_ENST00000317613.6_Missense_Mutation_p.L502I|RGS3_ENST00000350696.5_Missense_Mutation_p.L614I|RGS3_ENST00000374136.1_Missense_Mutation_p.L240I|RGS3_ENST00000394646.3_Missense_Mutation_p.L333I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	614					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGGAACCCCCTCTACCTCCA	0.607																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1840-1842)Ctc>Atc		regulator of G-protein signaling 3																																				SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116285291C>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1840C>A	9.37:g.116285291C>A	ENSP00000363255:p.Leu614Ile					RGS3_ENST00000350696.5_Missense_Mutation_p.L614I|RGS3_ENST00000374136.1_Missense_Mutation_p.L240I|RGS3_ENST00000343817.5_Missense_Mutation_p.L333I|RGS3_ENST00000317613.6_Missense_Mutation_p.L502I|RGS3_ENST00000394646.3_Missense_Mutation_p.L333I	p.L614I	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			18	2049	+			614					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1840C>A	CCDS43869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.878832|4.878832	0.91740|0.91740	.|.	.|.	ENSG00000138835|ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136|ENST00000496113	T;T;T;T;T;T|T	0.61040|0.65732	0.14;0.14;0.14;0.14;0.14;0.14|-0.17	5.49|5.49	5.49|5.49	0.81192|0.81192	Pleckstrin homology-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74665|0.74665	0.3746|0.3746	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.993;0.998;1.0;0.999;0.999;0.998|.	D;D;D;D;D;D|.	0.81914|.	0.952;0.99;0.991;0.995;0.993;0.994|.	T|T	0.76916|0.76916	-0.2782|-0.2782	10|7	0.72032|0.72032	D|D	0.01|0.01	.|.	16.5318|16.5318	0.84362|0.84362	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	333;240;333;504;502;614|.	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796|.	.;.;.;.;.;RGS3_HUMAN|.	I|H	614;614;502;333;333;240|68	ENSP00000363255:L614I;ENSP00000259406:L614I;ENSP00000312844:L502I;ENSP00000340284:L333I;ENSP00000378141:L333I;ENSP00000363251:L240I|ENSP00000418898:P68H	ENSP00000312844:L502I|ENSP00000418898:P68H	L|P	+|+	1|2	0|0	RGS3|RGS3	115325112|115325112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	3.300000|3.300000	0.51834|0.51834	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.607	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		11	77	1	0	0.00010058	1	0.000111121	11	77				
EML1	2009	broad.mit.edu	37	14	100357548	100357548	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100357548G>A	ENST00000262233.6	+	5	670	c.531G>A	c.(529-531)gaG>gaA	p.E177E	EML1_ENST00000334192.4_Silent_p.E196E|EML1_ENST00000327921.9_Silent_p.E165E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	177	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AACCCAAGGAGCCTGTATTCA	0.443																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(529-531)gaG>gaA		echinoderm microtubule associated protein like 1							144.0	134.0	137.0					14																	100357548		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100357548G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.531G>A	14.37:g.100357548G>A						EML1_ENST00000327921.9_Silent_p.E165E|EML1_ENST00000334192.4_Silent_p.E196E	p.E177E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			5	670	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	177					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.531G>A	CCDS32155.1																																																																																				0.443	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		50	68	0	0	0	1	0	50	68				
TTN	7273	broad.mit.edu	37	2	179446770	179446770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446770G>T	ENST00000591111.1	-	265	61627	c.61403C>A	c.(61402-61404)cCt>cAt	p.P20468H	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13044H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13169H|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19541H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22109H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13236H|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20468	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P19539H(1)|p.P13236H(1)|p.P13236N(1)|p.P13169N(1)|p.P19541N(1)|p.P19541H(1)|p.P13044N(1)|p.P19539N(1)|p.P13044H(1)|p.P13169H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTATAATAGGTTTTCTGTT	0.448																																						ENST00000589042.1																			10	Substitution - Missense(10)	p.P19539H(1)|p.P13236H(1)|p.P13236N(1)|p.P13169N(1)|p.P19541N(1)|p.P19541H(1)|p.P13044N(1)|p.P19539N(1)|p.P13044H(1)|p.P13169H(1)	lung(10)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66325-66327)cCt>cAt		titin							182.0	177.0	178.0					2																	179446770		1857	4100	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446770G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61403C>A	2.37:g.179446770G>T	ENSP00000465570:p.Pro20468His					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13044H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19541H|TTN_ENST00000359218.5_Missense_Mutation_p.P13169H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13236H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20468H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.P22109H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		315	66550	-			20468			Fibronectin type-III 60.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66326C>A		.	.	.	.	.	.	.	.	.	.	G	14.21	2.466139	0.43839	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.68	5.68	0.88126	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78470	0.4288	M	0.89658	3.05	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.998;0.998;0.995	D;D;D;D	0.66847	0.947;0.947;0.947;0.924	T	0.82516	-0.0418	9	0.87932	D	0	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	13044;13169;13236;20468	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19541;13044;13236;13169;13042	ENSP00000343764:P19541H;ENSP00000434586:P13044H;ENSP00000340554:P13236H;ENSP00000352154:P13169H	ENSP00000340554:P13236H	P	-	2	0	TTN	179155016	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.863000	0.87023	2.689000	0.91719	0.655000	0.94253	CCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	144	1	0	0.000442599	1	0.00048047	8	144				
SYMPK	8189	broad.mit.edu	37	19	46331149	46331149	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46331149C>T	ENST00000245934.7	-	15	2257	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	671					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGATGAGTGGCGCCTCCAGCA	0.647																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2011-2013)gcG>gcA		symplekin							94.0	92.0	93.0					19																	46331149		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46331149C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2013G>A	19.37:g.46331149C>T							p.A671A	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	15	2257	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	671					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.2013G>A	CCDS12676.2																																																																																				0.647	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		42	80	0	0	0	1	0	42	80				
MUC5AC	4586	broad.mit.edu	37	11	1155535	1155535	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1155535G>T	ENST00000356191.2	+	4	223	c.223G>T	c.(223-225)Gcg>Tcg	p.A75S				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	75					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCCAACCCGGCGCACAACGG	0.672																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(223-225)Gcg>Tcg		mucin 5AC, oligomeric mucus/gel-forming							21.0	21.0	21.0					11																	1155535		875	1988	2863	SO:0001583	missense	4586							g.chr11:1155535G>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.223G>T	11.37:g.1155535G>T	ENSP00000348519:p.Ala75Ser						p.A75S						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	4	223	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.223G>T		.	.	.	.	.	.	.	.	.	.	G	10.43	1.347550	0.24426	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.18016	2.24;2.27	3.33	1.2	0.21068	.	.	.	.	.	T	0.12263	0.0298	L	0.45581	1.43	.	.	.	B	0.26081	0.141	B	0.23574	0.047	T	0.20075	-1.0286	8	0.28530	T	0.3	.	3.0617	0.06201	0.1093:0.1371:0.523:0.2305	.	75	A7Y9J9	.	S	75	ENSP00000435591:A75S;ENSP00000348519:A75S	ENSP00000348519:A75S	A	+	1	0	MUC5AC	1145535	0.012000	0.17670	0.001000	0.08648	0.013000	0.08279	1.690000	0.37711	0.723000	0.32274	0.290000	0.19541	GCG		0.672	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		4	10	1	0	1.23904e-05	1	1.39987e-05	4	10				
MSANTD1	345222	broad.mit.edu	37	4	3255043	3255043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3255043C>T	ENST00000438480.2	+	2	2177	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	MSANTD1_ENST00000507492.1_Missense_Mutation_p.P131S|MSANTD1_ENST00000510580.1_Missense_Mutation_p.P144S	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	144										endometrium(1)|lung(2)	3						TGGCAAACTGCCGGACAGCCA	0.637																																						ENST00000438480.2																			0				endometrium(1)|lung(2)	3						c.(430-432)Ccg>Tcg		Myb/SANT-like DNA-binding domain containing 1							56.0	68.0	64.0					4																	3255043		2203	4300	6503	SO:0001583	missense	345222							g.chr4:3255043C>T		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.430C>T	4.37:g.3255043C>T	ENSP00000411584:p.Pro144Ser					MSANTD1_ENST00000510580.1_Missense_Mutation_p.P144S|MSANTD1_ENST00000507492.1_Missense_Mutation_p.P131S	p.P144S	NM_001042690.1	NP_001036155.1	Q6ZTZ1	CD044_HUMAN			2	2177	+			144					C9J6V0	Missense_Mutation	SNP	ENST00000438480.2	37	c.430C>T	CCDS47003.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974368	0.34848	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	.	.	.	5.52	4.65	0.58169	.	0.312527	0.31747	N	0.007122	T	0.29850	0.0746	L	0.40543	1.245	0.26352	N	0.9772	B;B	0.29716	0.255;0.255	B;B	0.22152	0.038;0.026	T	0.15292	-1.0442	9	0.08381	T	0.77	.	13.4494	0.61161	0.0:0.843:0.157:0.0	.	144;144	D6RD98;Q6ZTZ1	.;CD044_HUMAN	S	131;144;144	.	ENSP00000411584:P144S	P	+	1	0	C4orf44	3224841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.026000	0.30103	1.280000	0.44463	0.591000	0.81541	CCG		0.637	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982		29	61	0	0	0	1	0	29	61				
ARHGEF19	128272	broad.mit.edu	37	1	16535421	16535421	+	Silent	SNP	C	C	A	rs563681063		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535421C>A	ENST00000270747.3	-	2	265	c.129G>T	c.(127-129)ccG>ccT	p.P43P	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	43					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGGGCTCGGGGGCTTCA	0.672																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(127-129)ccG>ccT		Rho guanine nucleotide exchange factor (GEF) 19							21.0	26.0	24.0					1																	16535421		2201	4300	6501	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16535421C>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.129G>T	1.37:g.16535421C>A						ARHGEF19_ENST00000421561.1_Silent_p.P43P	p.P43P	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	2	265	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	43					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.129G>T	CCDS170.1																																																																																				0.672	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		12	14	1	0	0.0135373	1	0.0140872	12	14				
LAG3	3902	broad.mit.edu	37	12	6886956	6886956	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6886956G>T	ENST00000203629.2	+	7	1633		c.e7-1			NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3						cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTTCTCCATAGGTGCCCAACG	0.517																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e7-1		lymphocyte-activation gene 3							81.0	79.0	79.0					12																	6886956		2203	4300	6503	SO:0001630	splice_region_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886956G>T		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1301-1G>T	12.37:g.6886956G>T								NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			7	1633	+								A8K7T9|Q7Z643	Splice_Site	SNP	ENST00000203629.2	37		CCDS8561.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335800	0.24253	.	.	ENSG00000089692	ENST00000203629	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4988	0.67707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAG3	6757217	1.000000	0.71417	0.896000	0.35187	0.175000	0.22909	4.489000	0.60309	2.501000	0.84356	0.455000	0.32223	.		0.517	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1		Intron	6	75	1	0	3.59834e-05	1	4.01776e-05	6	75				
VRK3	51231	broad.mit.edu	37	19	50500782	50500782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50500782G>A	ENST00000599538.1	-	7	1322	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	VRK3_ENST00000594092.1_Missense_Mutation_p.R220W|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000594948.1_Missense_Mutation_p.R220W|VRK3_ENST00000424804.2_Intron|VRK3_ENST00000377011.2_Missense_Mutation_p.R170W|VRK3_ENST00000316763.3_Missense_Mutation_p.R220W|VRK3_ENST00000601912.1_Missense_Mutation_p.R170W|VRK3_ENST00000593919.1_Missense_Mutation_p.R220W|VRK3_ENST00000601341.1_Missense_Mutation_p.R170W			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGGCGGCCCGCTGGAAGAAG	0.592																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(658-660)Cgg>Tgg		vaccinia related kinase 3							59.0	52.0	54.0					19																	50500782		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50500782G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.658C>T	19.37:g.50500782G>A	ENSP00000469880:p.Arg220Trp					VRK3_ENST00000594948.1_Missense_Mutation_p.R220W|VRK3_ENST00000377011.2_Missense_Mutation_p.R170W|VRK3_ENST00000593919.1_Missense_Mutation_p.R220W|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000601912.1_Missense_Mutation_p.R170W|VRK3_ENST00000601341.1_Missense_Mutation_p.R170W|VRK3_ENST00000594092.1_Missense_Mutation_p.R220W|VRK3_ENST00000424804.2_Intron|VRK3_ENST00000316763.3_Missense_Mutation_p.R220W	p.R220W			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	7	1322	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	220			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.658C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552902	0.65425	.	.	ENSG00000105053	ENST00000316763;ENST00000377011	T;T	0.23754	1.89;1.89	3.96	1.59	0.23543	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.52238	-0.8602	10	0.87932	D	0	-18.0226	6.1935	0.20538	0.1013:0.0:0.6567:0.242	.	220;170;220	Q8IV63-2;A6NEG5;Q8IV63	.;.;VRK3_HUMAN	W	220;170	ENSP00000324636:R220W;ENSP00000366210:R170W	ENSP00000324636:R220W	R	-	1	2	VRK3	55192594	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	1.760000	0.38430	0.452000	0.26830	-0.136000	0.14681	CGG		0.592	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		16	7	0	0	0	1	0	16	7				
ZCCHC13	389874	broad.mit.edu	37	X	73524566	73524566	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73524566G>A	ENST00000339534.2	+	1	542	c.465G>A	c.(463-465)cgG>cgA	p.R155R		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	155							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TACCGCTGCGGCAAATCCCGA	0.527																																						ENST00000339534.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(463-465)cgG>cgA		zinc finger, CCHC domain containing 13							48.0	40.0	43.0					X																	73524566		2203	4300	6503	SO:0001819	synonymous_variant	389874						nucleic acid binding|zinc ion binding	g.chrX:73524566G>A	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.465G>A	X.37:g.73524566G>A							p.R155R	NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN			1	542	+			155						Silent	SNP	ENST00000339534.2	37	c.465G>A	CCDS14425.1																																																																																				0.527	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		16	23	0	0	0	1	0	16	23				
TBX1	6899	broad.mit.edu	37	22	19751790	19751790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751790C>T	ENST00000329705.7	+	5	754	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	TBX1_ENST00000332710.4_Nonsense_Mutation_p.Q209*|TBX1_ENST00000359500.3_Nonsense_Mutation_p.Q209*	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	209					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GTGGATGAAGCAAATCGTGTC	0.667																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(625-627)Caa>Taa		T-box 1							92.0	77.0	82.0					22																	19751790		2202	4300	6502	SO:0001587	stop_gained	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19751790C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.625C>T	22.37:g.19751790C>T	ENSP00000331176:p.Gln209*					TBX1_ENST00000359500.3_Nonsense_Mutation_p.Q209*|TBX1_ENST00000329705.7_Nonsense_Mutation_p.Q209*	p.Q209*	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			5	754	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	209					C6G493|C6G494|O43436|Q96RJ2	Nonsense_Mutation	SNP	ENST00000329705.7	37	c.625C>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	38	7.037620	0.98021	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	17.4377	0.87557	0.0:1.0:0.0:0.0	.	.	.	.	X	209	.	ENSP00000331176:Q209X	Q	+	1	0	TBX1	18131790	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.841000	0.62824	2.210000	0.71456	0.563000	0.77884	CAA		0.667	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		5	44	0	0	0	1	0	5	44				
ZNF445	353274	broad.mit.edu	37	3	44496714	44496714	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44496714C>T	ENST00000396077.2	-	3	675	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF445_ENST00000425708.2_Missense_Mutation_p.E110K	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	110	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCCGGAGCTCCCCAGGCAGG	0.612																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(328-330)Gag>Aag		zinc finger protein 445							66.0	68.0	67.0					3																	44496714		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44496714C>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.328G>A	3.37:g.44496714C>T	ENSP00000379387:p.Glu110Lys					ZNF445_ENST00000396077.2_Missense_Mutation_p.E110K	p.E110K			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	2	669	-			110			SCAN box.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.328G>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276578	0.80580	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.07114	3.22;3.22	4.45	4.45	0.53987	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.42548	D	0.000681	T	0.24547	0.0595	M	0.63428	1.95	0.37715	D	0.924693	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.02333	-1.1175	10	0.87932	D	0	.	12.8103	0.57635	0.0:1.0:0.0:0.0	.	110;110	B7ZKX2;P59923	.;ZN445_HUMAN	K	110;110;107;109	ENSP00000413073:E110K;ENSP00000379387:E110K	ENSP00000342436:E107K	E	-	1	0	ZNF445	44471718	0.017000	0.18338	0.929000	0.37066	0.828000	0.46876	1.323000	0.33701	2.478000	0.83669	0.563000	0.77884	GAG		0.612	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		14	34	0	0	0	1	0	14	34				
ARHGAP31	57514	broad.mit.edu	37	3	119128599	119128599	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119128599C>T	ENST00000264245.4	+	11	2434	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	634					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGGCCAGAGCCGAAGCTGTGC	0.532																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1900-1902)gcC>gcT		Rho GTPase activating protein 31							18.0	22.0	20.0					3																	119128599		1990	4166	6156	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119128599C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1902C>T	3.37:g.119128599C>T							p.A634A	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			11	2434	+			634					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.1902C>T	CCDS43135.1																																																																																				0.532	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			4	8	0	0	0	1	0	4	8				
DCDC1	341019	broad.mit.edu	37	11	30914468	30914468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30914468G>A	ENST00000597505.1	-	34	4969	c.4970C>T	c.(4969-4971)cCg>cTg	p.P1657L	DCDC1_ENST00000406071.2_Missense_Mutation_p.P395L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGGTTGCTCGGCTTGACTGC	0.423																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4969-4971)cCg>cTg		doublecortin domain containing 1							201.0	192.0	195.0					11																	30914468		1889	4134	6023	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30914468G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4970C>T	11.37:g.30914468G>A	ENSP00000472625:p.Pro1657Leu					DCDC1_ENST00000406071.2_Missense_Mutation_p.P395L	p.P1657L			P59894	DCDC1_HUMAN			34	4969	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.4970C>T		.	.	.	.	.	.	.	.	.	.	G	11.35	1.613142	0.28712	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.8	-7.19	0.01500	.	.	.	.	.	T	0.17662	0.0424	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.25187	-1.0139	6	0.30078	T	0.28	.	2.4941	0.04617	0.1024:0.2671:0.3317:0.2988	.	.	.	.	L	395	.	ENSP00000385936:P395L	P	-	2	0	DCDC5	30871044	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.884000	0.04166	-1.206000	0.02641	-0.410000	0.06199	CCG		0.423	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		30	66	0	0	0	1	0	30	66				
CD83	9308	broad.mit.edu	37	6	14135456	14135456	+	Nonsense_Mutation	SNP	G	G	T	rs147096996	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14135456G>T	ENST00000379153.3	+	5	778	c.607G>T	c.(607-609)Gaa>Taa	p.E203*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	203					defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TCACAAGACAGAACTGGTATG	0.488																																						ENST00000379153.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12						c.(607-609)Gaa>Taa		CD83 molecule							94.0	94.0	94.0					6																	14135456		2203	4300	6503	SO:0001587	stop_gained	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14135456G>T	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.607G>T	6.37:g.14135456G>T	ENSP00000368450:p.Glu203*						p.E203*	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN			5	778	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	203					Q5THX9	Nonsense_Mutation	SNP	ENST00000379153.3	37	c.607G>T	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669688	0.96754	.	.	ENSG00000112149	ENST00000379153	.	.	.	5.0	5.0	0.66597	.	0.290750	0.32244	N	0.006366	.	.	.	.	.	.	0.29192	N	0.875798	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.9768	0.64277	0.0:0.0:1.0:0.0	.	.	.	.	X	203	.	ENSP00000368450:E203X	E	+	1	0	CD83	14243435	0.994000	0.37717	0.456000	0.27044	0.952000	0.60782	4.177000	0.58276	2.757000	0.94681	0.655000	0.94253	GAA		0.488	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			5	54	1	0	1	1	1	5	54				
PCDHGB6	56100	broad.mit.edu	37	5	140788107	140788107	+	Missense_Mutation	SNP	C	C	A	rs201370009		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788107C>A	ENST00000520790.1	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAAATCCTTTAAATATT	0.383																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(337-339)cCt>cAt									156.0	162.0	160.0					5																	140788107		1831	4070	5901	SO:0001583	missense	0							g.chr5:140788107C>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.338C>A	5.37:g.140788107C>A	ENSP00000428603:p.Pro113His					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P113H	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	338	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.338C>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	17.14	3.313157	0.60414	.	.	ENSG00000253305	ENST00000520790	T	0.38401	1.14	5.38	5.38	0.77491	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.71290	0.3322	M	0.93241	3.395	0.46749	D	0.999182	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.79855	-0.1627	9	0.87932	D	0	.	19.1331	0.93415	0.0:1.0:0.0:0.0	.	113;113	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	113	ENSP00000428603:P113H	ENSP00000428603:P113H	P	+	2	0	PCDHGB6	140768291	1.000000	0.71417	0.995000	0.50966	0.378000	0.30076	7.779000	0.85648	2.517000	0.84864	0.467000	0.42956	CCT		0.383	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		12	89	1	0	0.0202918	1	0.0209785	12	89				
RASSF9	9182	broad.mit.edu	37	12	86198665	86198665	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86198665A>G	ENST00000361228.3	-	2	1491	c.1123T>C	c.(1123-1125)Tgc>Cgc	p.C375R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	375					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACTGGCACCCATCTTTG	0.393																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1123-1125)Tgc>Cgc		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							180.0	175.0	177.0					12																	86198665		1883	4129	6012	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198665A>G		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1123T>C	12.37:g.86198665A>G	ENSP00000354884:p.Cys375Arg						p.C375R	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1491	-			375					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1123T>C	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	A	8.572	0.880176	0.17467	.	.	ENSG00000198774	ENST00000361228	T	0.43294	0.95	5.1	3.92	0.45320	.	0.961107	0.08548	U	0.929431	T	0.34832	0.0911	L	0.50333	1.59	0.19575	N	0.999965	B	0.06786	0.001	B	0.04013	0.001	T	0.35450	-0.9788	10	0.13853	T	0.58	-4.225	7.1274	0.25479	0.7677:0.1487:0.0836:0.0	.	375	O75901	RASF9_HUMAN	R	375	ENSP00000354884:C375R	ENSP00000354884:C375R	C	-	1	0	RASSF9	84722796	0.000000	0.05858	0.925000	0.36789	0.368000	0.29767	0.771000	0.26633	0.848000	0.35191	0.528000	0.53228	TGC		0.393	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			42	121	0	0	0	1	0	42	121				
PYGM	5837	broad.mit.edu	37	11	64527346	64527346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64527346C>A	ENST00000164139.3	-	1	423	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PYGM_ENST00000377432.3_Nonsense_Mutation_p.E9*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTCTTTTCTCTTGGTCTGAC	0.592																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(25-27)Gag>Tag		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						103.0	99.0	101.0					11																	64527346		2201	4297	6498	SO:0001587	stop_gained	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64527346C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.25G>T	11.37:g.64527346C>A	ENSP00000164139:p.Glu9*					PYGM_ENST00000377432.3_Nonsense_Mutation_p.E9*	p.E9*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			1	423	-			9					A0AVK1|A6NDY6	Nonsense_Mutation	SNP	ENST00000164139.3	37	c.25G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	41	8.648391	0.98899	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	.	.	.	5.41	5.41	0.78517	.	0.310111	0.27836	N	0.017652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-15.2733	16.6868	0.85310	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000164139:E9X	E	-	1	0	PYGM	64283922	1.000000	0.71417	0.994000	0.49952	0.648000	0.38561	7.536000	0.82023	2.562000	0.86427	0.655000	0.94253	GAG		0.592	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		7	87	1	0	0.000157383	1	0.00017284	7	87				
IQCF1	132141	broad.mit.edu	37	3	51937000	51937000	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51937000C>T	ENST00000310914.5	-	2	171		c.e2+1			NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTCCTCCTACCTCTGCCTTT	0.493																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.e2+1		IQ motif containing F1							358.0	330.0	340.0					3																	51937000		2203	4300	6503	SO:0001630	splice_region_variant	132141							g.chr3:51937000C>T	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.108+1G>A	3.37:g.51937000C>T								NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	171	-								Q8N711	Splice_Site	SNP	ENST00000310914.5	37		CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089165	0.36855	.	.	ENSG00000173389	ENST00000535733;ENST00000310914	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.179	0.48616	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQCF1	51912040	1.000000	0.71417	0.985000	0.45067	0.151000	0.21798	2.710000	0.47169	2.339000	0.79563	0.491000	0.48974	.		0.493	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397	Intron	29	267	0	0	0	1	0	29	267				
PCDH15	65217	broad.mit.edu	37	10	55663126	55663126	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55663126A>G	ENST00000320301.6	-	26	3772	c.3378T>C	c.(3376-3378)aaT>aaC	p.N1126N	PCDH15_ENST00000373965.2_Silent_p.N1133N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.N1126N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.N737N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.N1089N|PCDH15_ENST00000437009.1_Silent_p.N1055N|PCDH15_ENST00000395433.1_Silent_p.N1104N|PCDH15_ENST00000414778.1_Silent_p.N1131N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.N1126N|PCDH15_ENST00000361849.3_Silent_p.N1126N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.N1133N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1126	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTTAGCTGTATTGCCTGGAG	0.358										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3397-3399)aaT>aaC		protocadherin-related 15							95.0	96.0	95.0					10																	55663126		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55663126A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3378T>C	10.37:g.55663126A>G		HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.N737N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.N1133N|PCDH15_ENST00000395432.2_Silent_p.N1089N|PCDH15_ENST00000361849.3_Silent_p.N1126N|PCDH15_ENST00000320301.6_Silent_p.N1126N|PCDH15_ENST00000395430.1_Silent_p.N1126N|PCDH15_ENST00000437009.1_Silent_p.N1055N|PCDH15_ENST00000395438.1_Silent_p.N1126N|PCDH15_ENST00000395433.1_Silent_p.N1104N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Silent_p.N1131N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron	p.N1133N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			27	3793	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1126			Cadherin 10.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3399T>C	CCDS7248.1																																																																																				0.358	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		4	70	0	0	0	1	0	4	70				
MOGAT3	346606	broad.mit.edu	37	7	100839254	100839254	+	Silent	SNP	G	G	A	rs555669702		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839254G>A	ENST00000223114.4	-	7	1165	c.999C>T	c.(997-999)ccC>ccT	p.P333P	MOGAT3_ENST00000379423.3_Missense_Mutation_p.R266C|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	333					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGGTGGAAGCGGGGACCCCAC	0.632																																						ENST00000379423.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(796-798)Cgc>Tgc		monoacylglycerol O-acyltransferase 3							76.0	73.0	74.0					7																	100839254		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839254G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.999C>T	7.37:g.100839254G>A						MOGAT3_ENST00000223114.4_Silent_p.P333P|MOGAT3_ENST00000440203.2_3'UTR	p.R266C			Q86VF5	MOGT3_HUMAN			6	856	-	Lung NSC(181;0.168)|all_lung(186;0.215)		0					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.796C>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056478	0.36277	.	.	ENSG00000106384	ENST00000379423	T	0.31247	1.5	5.07	-10.1	0.00402	.	.	.	.	.	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	8	0.34782	T	0.22	.	0.7519	0.00992	0.1789:0.3087:0.2112:0.3012	.	266	Q86VF5-2	.	C	266	ENSP00000368734:R266C	ENSP00000368734:R266C	R	-	1	0	MOGAT3	100625974	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-1.964000	0.01512	-2.319000	0.00643	-1.000000	0.02509	CGC		0.632	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		22	83	0	0	0	1	0	22	83				
FRY	10129	broad.mit.edu	37	13	32691602	32691602	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32691602A>C	ENST00000380250.3	+	4	952	c.456A>C	c.(454-456)aaA>aaC	p.K152N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	152						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCAATAAATCAAAAAGGT	0.333																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(454-456)aaA>aaC		furry homolog (Drosophila)							157.0	150.0	152.0					13																	32691602		1891	4116	6007	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32691602A>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.456A>C	13.37:g.32691602A>C	ENSP00000369600:p.Lys152Asn						p.K152N	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	4	952	+		Lung SC(185;0.0271)	152					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.456A>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619909	0.66787	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.25250	1.81	5.13	2.7	0.31948	.	0.052893	0.85682	D	0.000000	T	0.42698	0.1214	M	0.74258	2.255	0.80722	D	1	D	0.65815	0.995	D	0.69142	0.962	T	0.23332	-1.0191	10	0.23302	T	0.38	.	7.6703	0.28455	0.7606:0.0:0.2394:0.0	.	152	Q5TBA9	FRY_HUMAN	N	152;149	ENSP00000369600:K152N	ENSP00000369600:K152N	K	+	3	2	FRY	31589602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.931000	0.48932	0.372000	0.24591	0.533000	0.62120	AAA		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		8	66	0	0	0	1	0	8	66				
MYH7	4625	broad.mit.edu	37	14	23894525	23894525	+	Missense_Mutation	SNP	C	C	T	rs3218716	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894525C>T	ENST00000355349.3	-	21	2551	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	797	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.		A -> T (in CMH1; dbSNP:rs3218716). {ECO:0000269|PubMed:10521296, ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:7581410}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATTCTGGCGAGCACACCT	0.597																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM066923|CM950825	MYH7	M	rs3218716	c.(2389-2391)Gcc>Acc		myosin, heavy chain 7, cardiac muscle, beta		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	98.0	81.0	87.0		2389	0.8	1.0	14	dbSNP_106	87	0,8600		0,0,4300	no	missense	MYH7	NM_000257.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	797/1936	23894525	1,13005	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894525C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2389G>A	14.37:g.23894525C>T	ENSP00000347507:p.Ala797Thr						p.A797T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	21	2551	-	all_cancers(95;2.54e-05)		797		A -> T (in CMH1; dbSNP:rs3218716).	IQ.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2389G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049679	0.36181	2.27E-4	0.0	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.93133	-3.17	4.6	0.747	0.18371	.	.	.	.	.	D	0.89818	0.6825	L	0.52206	1.635	0.09310	N	1	B	0.21520	0.057	B	0.23018	0.043	T	0.79862	-0.1624	9	0.45353	T	0.12	.	9.84	0.40993	0.423:0.4657:0.0:0.1113	rs3218716;rs3218716	797	P12883	MYH7_HUMAN	T	797	ENSP00000347507:A797T	ENSP00000347507:A797T	A	-	1	0	MYH7	22964365	0.000000	0.05858	0.992000	0.48379	0.913000	0.54294	0.118000	0.15605	0.034000	0.15491	-0.363000	0.07495	GCC		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		19	28	0	0	0	1	0	19	28				
ZFP2	80108	broad.mit.edu	37	5	178358812	178358812	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178358812C>A	ENST00000361362.2	+	5	1028	c.498C>A	c.(496-498)gcC>gcA	p.A166A	ZFP2_ENST00000523286.1_Silent_p.A166A|ZFP2_ENST00000503510.2_Silent_p.A166A|ZFP2_ENST00000520301.1_Silent_p.A166A	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTGGGAAAGCCTTTAGTCAGA	0.403																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(496-498)gcC>gcA		ZFP2 zinc finger protein							53.0	54.0	54.0					5																	178358812		2203	4300	6503	SO:0001819	synonymous_variant	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358812C>A	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.498C>A	5.37:g.178358812C>A						ZFP2_ENST00000503510.2_Silent_p.A166A|ZFP2_ENST00000523286.1_Silent_p.A166A|ZFP2_ENST00000520301.1_Silent_p.A166A	p.A166A	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1028	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	166					A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	37	c.498C>A	CCDS4440.1																																																																																				0.403	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		4	39	1	0	0.00909568	1	0.00947522	4	39				
RERG	85004	broad.mit.edu	37	12	15262092	15262092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15262092C>T	ENST00000256953.2	-	5	888	c.552G>A	c.(550-552)acG>acA	p.T184T	RERG_ENST00000536465.1_Silent_p.T184T|RERG_ENST00000546331.1_Silent_p.T165T|RERG_ENST00000538313.1_Silent_p.T184T	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	184					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTTGACATGCGTGGTGGAGC	0.517																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(550-552)acG>acA		RAS-like, estrogen-regulated, growth inhibitor							123.0	116.0	118.0					12																	15262092		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262092C>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.552G>A	12.37:g.15262092C>T						RERG_ENST00000538313.1_Silent_p.T184T|RERG_ENST00000536465.1_Silent_p.T184T|RERG_ENST00000546331.1_Silent_p.T165T	p.T184T	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	888	-			184					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.552G>A	CCDS8673.1																																																																																				0.517	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		8	99	0	0	0	1	0	8	99				
TLL2	7093	broad.mit.edu	37	10	98165092	98165092	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98165092C>A	ENST00000357947.3	-	10	1390		c.e10-1		TLL2_ENST00000469598.1_Splice_Site	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTAATACGATCTGTAAAGAAT	0.433																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.e10-1		tolloid-like 2							87.0	92.0	90.0					10																	98165092		2203	4300	6503	SO:0001630	splice_region_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98165092C>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1165-1G>T	10.37:g.98165092C>A						TLL2_ENST00000469598.1_Splice_Site		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1390	-		Colorectal(252;0.0846)						A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Splice_Site	SNP	ENST00000357947.3	37		CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005099	0.74932	.	.	ENSG00000095587	ENST00000357947	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1507	0.89674	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLL2	98155082	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.575000	0.82447	2.764000	0.94973	0.655000	0.94253	.		0.433	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		Intron	11	71	1	0	0.000673444	1	0.000724755	11	71				
PAH	5053	broad.mit.edu	37	12	103310897	103310897	+	Silent	SNP	C	C	T	rs536605300		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:103310897C>T	ENST00000553106.1	-	1	484	c.12G>A	c.(10-12)gcG>gcA	p.A4A	PAH_ENST00000307000.2_5'UTR|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	4					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCCAGGACCGCAGTGGACA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18034	0.0		0.0	False		,,,				2504	0.0					ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(10-12)gcG>gcA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						75.0	73.0	74.0					12																	103310897		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103310897C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.12G>A	12.37:g.103310897C>T						PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_5'UTR	p.A4A	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			1	484	-			4					Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.12G>A	CCDS9092.1																																																																																				0.577	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			16	30	0	0	0	1	0	16	30				
F7	2155	broad.mit.edu	37	13	113772771	113772771	+	Missense_Mutation	SNP	C	C	T	rs149779477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772771C>T	ENST00000375581.3	+	9	885	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	F7_ENST00000541084.1_Missense_Mutation_p.R215W|F7_ENST00000346342.3_Missense_Mutation_p.R262W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCAGAGCCGGCGGGTGGCGCA	0.682																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(850-852)Cgg>Tgg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	C	TRP/ARG,TRP/ARG	0,4402		0,0,2201	72.0	68.0	70.0		850,784	-0.8	0.0	13	dbSNP_134	70	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	F7	NM_000131.3,NM_019616.2	101,101	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	284/467,262/445	113772771	1,12997	2201	4298	6499	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772771C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.850C>T	13.37:g.113772771C>T	ENSP00000364731:p.Arg284Trp					F7_ENST00000346342.3_Missense_Mutation_p.R262W|F7_ENST00000541084.1_Missense_Mutation_p.R215W	p.R284W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	885	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	284			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.850C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904502	0.52333	0.0	1.16E-4	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.88896	-2.44;-2.44;-2.44	4.41	-0.809	0.10864	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.093350	0.02031	N	0.048527	D	0.89911	0.6852	M	0.72624	2.21	0.09310	N	1	D;D;D	0.76494	0.998;0.998;0.999	P;P;P	0.52554	0.633;0.576;0.702	T	0.74352	-0.3693	10	0.72032	D	0.01	.	0.9085	0.01289	0.403:0.2426:0.1154:0.239	.	215;262;284	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	W	262;215;284	ENSP00000329546:R262W;ENSP00000442051:R215W;ENSP00000364731:R284W	ENSP00000329546:R262W	R	+	1	2	F7	112820772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.413000	0.07123	-0.100000	0.12241	-0.373000	0.07131	CGG		0.682	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		26	36	0	0	0	1	0	26	36				
USP11	8237	broad.mit.edu	37	X	47098481	47098481	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47098481G>T	ENST00000218348.3	+	2	318	c.318G>T	c.(316-318)gaG>gaT	p.E106D	USP11_ENST00000377107.2_Missense_Mutation_p.E63D	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	106	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCTTGTGGAGAAGCACTGGT	0.527																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(187-189)gaG>gaT		ubiquitin specific peptidase 11							63.0	46.0	52.0					X																	47098481		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47098481G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.318G>T	X.37:g.47098481G>T	ENSP00000218348:p.Glu106Asp					USP11_ENST00000218348.3_Missense_Mutation_p.E106D	p.E63D			P51784	UBP11_HUMAN			2	543	+			106					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.189G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	0.753	-0.771945	0.02951	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19532	2.14;2.14	5.95	-2.21	0.06973	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.268115	0.34906	N	0.003589	T	0.05273	0.0140	N	0.05012	-0.13	0.19575	N	0.999964	B	0.10296	0.003	B	0.16289	0.015	T	0.29912	-0.9996	10	0.02654	T	1	-12.0601	1.4882	0.02451	0.4721:0.1192:0.1633:0.2454	.	106	P51784	UBP11_HUMAN	D	63;106	ENSP00000366311:E63D;ENSP00000218348:E106D	ENSP00000218348:E106D	E	+	3	2	USP11	46983425	0.000000	0.05858	0.043000	0.18650	0.968000	0.65278	-0.570000	0.05895	-0.496000	0.06650	-0.229000	0.12294	GAG		0.527	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		3	18	1	0	6.4e-05	1	7.11719e-05	3	18				
MYLK3	91807	broad.mit.edu	37	16	46744668	46744668	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46744668T>G	ENST00000394809.4	-	11	2263	c.2148A>C	c.(2146-2148)acA>acC	p.T716T	MYLK3_ENST00000536476.1_Silent_p.T375T|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCTGCATCTGTTTCCCCTA	0.478																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(2146-2148)acA>acC		myosin light chain kinase 3							110.0	117.0	115.0					16																	46744668		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46744668T>G	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2148A>C	16.37:g.46744668T>G						MYLK3_ENST00000536476.1_Silent_p.T375T|MYLK3_ENST00000562104.1_5'UTR	p.T716T	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			11	2263	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	716			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.2148A>C	CCDS10723.2																																																																																				0.478	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		44	115	0	0	0	1	0	44	115				
SLC29A4	222962	broad.mit.edu	37	7	5330479	5330479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5330479C>T	ENST00000396872.3	+	3	447	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	SLC29A4_ENST00000297195.4_Missense_Mutation_p.H96Y|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H96Y			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	96					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GGACTACCTGCATCACAAGTA	0.627																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(286-288)Cat>Tat		solute carrier family 29 (equilibrative nucleoside transporter), member 4							89.0	75.0	80.0					7																	5330479		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330479C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.286C>T	7.37:g.5330479C>T	ENSP00000380081:p.His96Tyr					SLC29A4_ENST00000297195.4_Missense_Mutation_p.H96Y|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H96Y	p.H96Y	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	3	447	+		Ovarian(82;0.0175)	96					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.286C>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175478	0.78564	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;D;T;D;T	0.81821	1.49;-1.54;1.49;-1.54;1.49	4.15	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.87704	0.6244	M	0.70275	2.135	0.58432	D	0.999994	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.925	D	0.86602	0.1867	10	0.31617	T	0.26	-10.3863	14.7047	0.69179	0.0:1.0:0.0:0.0	.	96;96	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	Y	96	ENSP00000406803:H96Y;ENSP00000380081:H96Y;ENSP00000413271:H96Y;ENSP00000297195:H96Y;ENSP00000385845:H96Y	ENSP00000297195:H96Y	H	+	1	0	SLC29A4	5297005	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.996000	0.76263	1.871000	0.54225	0.556000	0.70494	CAT		0.627	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		9	71	0	0	0	1	0	9	71				
TAB1	10454	broad.mit.edu	37	22	39811107	39811107	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39811107A>G	ENST00000216160.6	+	2	192	c.130A>G	c.(130-132)Act>Gct	p.T44A	TAB1_ENST00000331454.3_Missense_Mutation_p.T44A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	44					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGCAAGGGCACTGAGAGCCA	0.602																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(130-132)Act>Gct		TGF-beta activated kinase 1/MAP3K7 binding protein 1							58.0	44.0	49.0					22																	39811107		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39811107A>G	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.130A>G	22.37:g.39811107A>G	ENSP00000216160:p.Thr44Ala					TAB1_ENST00000331454.3_Missense_Mutation_p.T44A	p.T44A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			2	192	+			44					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.130A>G	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513353	0.27123	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.09255	3.0;3.0	4.85	4.85	0.62838	Protein phosphatase 2C-like (3);	0.131069	0.48767	D	0.000179	T	0.11281	0.0275	L	0.54323	1.7	0.39783	D	0.972329	B;B;B	0.18968	0.022;0.032;0.005	B;B;B	0.16722	0.009;0.016;0.003	T	0.06972	-1.0797	10	0.07325	T	0.83	-16.9683	14.6004	0.68438	1.0:0.0:0.0:0.0	.	44;44;188	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	A	44	ENSP00000216160:T44A;ENSP00000333049:T44A	ENSP00000216160:T44A	T	+	1	0	TAB1	38141053	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	5.121000	0.64691	2.031000	0.59945	0.533000	0.62120	ACT		0.602	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		4	26	0	0	0	1	0	4	26				
DIP2C	22982	broad.mit.edu	37	10	429983	429983	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:429983C>T	ENST00000280886.6	-	16	1947	c.1860G>A	c.(1858-1860)gcG>gcA	p.A620A	DIP2C_ENST00000381496.3_Silent_p.A513A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	620						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGCGCCGTCCGCCACTATCA	0.522																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1858-1860)gcG>gcA		DIP2 disco-interacting protein 2 homolog C (Drosophila)							82.0	68.0	73.0					10																	429983		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:429983C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1860G>A	10.37:g.429983C>T						DIP2C_ENST00000381496.3_Silent_p.A513A	p.A620A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	16	1947	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	620					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.1860G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129198	0.01756	.	.	ENSG00000151240	ENST00000421992	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.33147	0.0853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46133	-0.9213	4	.	.	.	-25.3578	2.799	0.05409	0.5157:0.1324:0.0812:0.2707	.	.	.	.	Q	88	.	.	R	-	2	0	DIP2C	419983	0.015000	0.18098	0.035000	0.18076	0.006000	0.05464	-0.676000	0.05221	-3.411000	0.00168	-1.254000	0.01491	CGG		0.522	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		4	35	0	0	0	1	0	4	35				
DENND4A	10260	broad.mit.edu	37	15	65960372	65960372	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65960372A>C	ENST00000431932.2	-	27	4953	c.4745T>G	c.(4744-4746)tTt>tGt	p.F1582C	DENND4A_ENST00000443035.3_Missense_Mutation_p.F1625C	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1582					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGCCATTGGAAATATTGGACA	0.413																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(4873-4875)tTt>tGt		DENN/MADD domain containing 4A							93.0	90.0	91.0					15																	65960372		1822	4080	5902	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65960372A>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4745T>G	15.37:g.65960372A>C	ENSP00000396830:p.Phe1582Cys					DENND4A_ENST00000431932.2_Missense_Mutation_p.F1582C	p.F1625C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			28	5089	-			1582					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4874T>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.167788	0.38315	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05081	3.5;3.52	5.41	5.41	0.78517	.	0.651527	0.16576	N	0.208384	T	0.05502	0.0145	L	0.36672	1.1	0.31560	N	0.657666	P;B	0.36495	0.556;0.257	B;B	0.30179	0.112;0.112	T	0.11717	-1.0576	10	0.38643	T	0.18	.	9.4118	0.38496	0.7333:0.0:0.0:0.2667	.	1625;1582	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1625;1582	ENSP00000391167:F1625C;ENSP00000396830:F1582C	ENSP00000396830:F1582C	F	-	2	0	DENND4A	63747426	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.209000	0.58493	2.165000	0.68154	0.528000	0.53228	TTT		0.413	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		4	55	0	0	0	1	0	4	55				
GTF3C1	2975	broad.mit.edu	37	16	27472858	27472858	+	Missense_Mutation	SNP	C	C	T	rs372940994		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27472858C>T	ENST00000356183.4	-	37	6158	c.6143G>A	c.(6142-6144)cGg>cAg	p.R2048Q	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.R2023Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2048					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCGCTTCCGGATGCAGCC	0.587																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(6142-6144)cGg>cAg		general transcription factor IIIC, polypeptide 1, alpha 220kDa			GLN/ARG	0,4394		0,0,2197	73.0	64.0	67.0		6143	-2.0	0.0	16		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	GTF3C1	NM_001520.3	43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	2048/2110	27472858	1,12993	2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27472858C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6143G>A	16.37:g.27472858C>T	ENSP00000348510:p.Arg2048Gln					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R2023Q	p.R2048Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			37	6158	-			2048					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.6143G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	c	14.00	2.405385	0.42715	0.0	1.16E-4	ENSG00000077235	ENST00000356183	T	0.22134	1.97	5.12	-2.04	0.07343	.	0.998871	0.08102	N	0.997666	T	0.13927	0.0337	L	0.27053	0.805	0.09310	N	1	B;B	0.15719	0.007;0.014	B;B	0.08055	0.003;0.002	T	0.33007	-0.9885	10	0.30854	T	0.27	-6.856	10.0012	0.41929	0.0:0.587:0.0:0.413	.	2048;2023	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	2048	ENSP00000348510:R2048Q	ENSP00000348510:R2048Q	R	-	2	0	GTF3C1	27380359	0.001000	0.12720	0.000000	0.03702	0.321000	0.28281	-0.035000	0.12205	-0.749000	0.04747	-0.225000	0.12378	CGG		0.587	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	87	0	0	0	1	0	5	87				
FREM2	341640	broad.mit.edu	37	13	39263238	39263238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39263238C>T	ENST00000280481.7	+	1	1973	c.1757C>T	c.(1756-1758)gCa>gTa	p.A586V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	586					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCCTGAGTGCAACTGACATG	0.542																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1756-1758)gCa>gTa		FRAS1 related extracellular matrix protein 2							132.0	131.0	131.0					13																	39263238		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263238C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1757C>T	13.37:g.39263238C>T	ENSP00000280481:p.Ala586Val						p.A586V	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1973	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	586					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1757C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240654	0.79912	.	.	ENSG00000150893	ENST00000280481	T	0.81078	-1.45	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92395	0.5924	10	0.62326	D	0.03	.	19.5209	0.95184	0.0:1.0:0.0:0.0	.	586	Q5SZK8	FREM2_HUMAN	V	586	ENSP00000280481:A586V	ENSP00000280481:A586V	A	+	2	0	FREM2	38161238	1.000000	0.71417	0.726000	0.30738	0.967000	0.64934	7.726000	0.84824	2.618000	0.88619	0.561000	0.74099	GCA		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		11	34	0	0	0	1	0	11	34				
CCSER2	54462	broad.mit.edu	37	10	86273327	86273327	+	3'UTR	SNP	C	C	T	rs61739454	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:86273327C>T	ENST00000224756.8	+	0	2718				CCSER2_ENST00000372088.2_Silent_p.G816G|CCSER2_ENST00000494144.1_3'UTR	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2						microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TGCATCAGGGCGGTGCACATC	0.498													c|||	52	0.0103834	0.0378	0.0029	5008	,	,		18227	0.0		0.0	False		,,,				2504	0.0					ENST00000372088.2																			0											c.(2446-2448)ggC>ggT		coiled-coil serine-rich protein 2		T		117,4289	87.8+/-126.4	2,113,2088	111.0	83.0	93.0			-12.1	0.0	10	dbSNP_129	93	0,8600		0,0,4300	no	utr-3	FAM190B	NM_018999.2		2,113,6388	TT,TC,CC		0.0,2.6555,0.8996			86273327	117,12889	2203	4300	6503	SO:0001624	3_prime_UTR_variant	54462							g.chr10:86273327C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.*28C>T	10.37:g.86273327C>T						CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000224756.8_3'UTR	p.G816G							10	2633	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	37	c.2448C>T	CCDS31235.1																																																																																				0.498	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		12	18	0	0	0	1	0	12	18				
RPRD2	23248	broad.mit.edu	37	1	150444346	150444346	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150444346T>G	ENST00000369068.4	+	11	2926	c.2922T>G	c.(2920-2922)ctT>ctG	p.L974L	RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000401000.4_Silent_p.L948L|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	974						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCGTTCCCTTTTCTCTCCGC	0.567																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2842-2844)ctT>ctG		regulation of nuclear pre-mRNA domain containing 2							279.0	285.0	283.0					1																	150444346		2033	4182	6215	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150444346T>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2922T>G	1.37:g.150444346T>G						RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000369068.4_Silent_p.L974L	p.L948L			Q5VT52	RPRD2_HUMAN			10	2909	+			974			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.2844T>G	CCDS44216.1																																																																																				0.567	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		107	251	0	0	0	1	0	107	251				
COL4A2	1284	broad.mit.edu	37	13	111118375	111118375	+	Silent	SNP	C	C	T	rs148709279	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111118375C>T	ENST00000360467.5	+	26	2310	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	668	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGAAAAGGGCCGTTGGAGGTG	0.512													C|||	5	0.000998403	0.0023	0.0014	5008	,	,		19709	0.001		0.0	False		,,,				2504	0.0					ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2002-2004)gcC>gcT		collagen, type IV, alpha 2		C		9,3921		0,9,1956	137.0	138.0	138.0		2004	2.8	0.6	13	dbSNP_134	138	0,8324		0,0,4162	no	coding-synonymous	COL4A2	NM_001846.2		0,9,6118	TT,TC,CC		0.0,0.229,0.0734		668/1713	111118375	9,12245	1965	4162	6127	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111118375C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2004C>T	13.37:g.111118375C>T							p.A668A	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		26	2310	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	668			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.2004C>T	CCDS41907.1																																																																																				0.512	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		24	30	0	0	0	1	0	24	30				
NYNRIN	57523	broad.mit.edu	37	14	24884336	24884336	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24884336C>T	ENST00000382554.3	+	9	3699	c.3381C>T	c.(3379-3381)gaC>gaT	p.D1127D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAAGCCTGACTGGCAGTGGG	0.627																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3379-3381)gaC>gaT		NYN domain and retroviral integrase containing							31.0	35.0	34.0					14																	24884336		2002	4164	6166	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884336C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3381C>T	14.37:g.24884336C>T							p.D1127D	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3699	+			1127					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3381C>T	CCDS45090.1																																																																																				0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			12	16	0	0	0	1	0	12	16				
SOWAHA	134548	broad.mit.edu	37	5	132150665	132150665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132150665C>T	ENST00000378693.2	+	1	1633	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	451																	GAGCCAGATGCGACCGGTGGT	0.687																																						ENST00000378693.2																			0											c.(1351-1353)gCg>gTg		sosondowah ankyrin repeat domain family member A							16.0	15.0	16.0					5																	132150665		2189	4288	6477	SO:0001583	missense	134548							g.chr5:132150665C>T	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1352C>T	5.37:g.132150665C>T	ENSP00000367965:p.Ala451Val						p.A451V	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1633	+			451					Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	c.1352C>T	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	C	6.280	0.419698	0.11928	.	.	ENSG00000198944	ENST00000378693	T	0.20200	2.09	4.55	-0.555	0.11807	.	1.169440	0.06463	N	0.729776	T	0.18173	0.0436	L	0.44542	1.39	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.35773	-0.9775	10	0.23891	T	0.37	-1.6046	9.8958	0.41318	0.0:0.3467:0.5689:0.0844	.	451	Q2M3V2	ANR43_HUMAN	V	451	ENSP00000367965:A451V	ENSP00000367965:A451V	A	+	2	0	ANKRD43	132178564	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.435000	0.02423	-0.110000	0.12022	-0.226000	0.12346	GCG		0.687	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		4	1	0	0	0	1	0	4	1				
CHD9	80205	broad.mit.edu	37	16	53279639	53279639	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53279639C>T	ENST00000398510.3	+	14	3418	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CHD9_ENST00000566029.1_Missense_Mutation_p.R1111W|CHD9_ENST00000447540.1_Missense_Mutation_p.R1111W|CHD9_ENST00000564845.1_Missense_Mutation_p.R1111W			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1111					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAATACTACCGGGCTATCTT	0.358																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3331-3333)Cgg>Tgg		chromodomain helicase DNA binding protein 9							70.0	68.0	68.0					16																	53279639		1803	4075	5878	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53279639C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3331C>T	16.37:g.53279639C>T	ENSP00000381522:p.Arg1111Trp					CHD9_ENST00000447540.1_Missense_Mutation_p.R1111W|CHD9_ENST00000398510.3_Missense_Mutation_p.R1111W|CHD9_ENST00000564845.1_Missense_Mutation_p.R1111W	p.R1111W			Q3L8U1	CHD9_HUMAN			15	3540	+		all_cancers(37;0.0212)	1111					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3331C>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.957461	0.73902	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.93366	-3.21;-3.21	5.65	3.59	0.41128	SNF2-related (1);	0.000000	0.51477	D	0.000093	D	0.97387	0.9145	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.997	D	0.97877	1.0289	10	0.87932	D	0	-11.5659	14.7126	0.69244	0.3195:0.6805:0.0:0.0	.	637;1111;1111;1111	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	W	1111;1111;637	ENSP00000396345:R1111W;ENSP00000381522:R1111W	ENSP00000219084:R637W	R	+	1	2	CHD9	51837140	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.336000	0.52113	0.706000	0.31912	-0.169000	0.13324	CGG		0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		15	36	0	0	0	1	0	15	36				
C19orf44	84167	broad.mit.edu	37	19	16631278	16631278	+	3'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16631278G>A	ENST00000221671.3	+	0	2544				CHERP_ENST00000198939.6_Missense_Mutation_p.R759C|CHERP_ENST00000546361.2_Missense_Mutation_p.R748C|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.R748C(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAGGAAGAACGCCCTCGACTC	0.622																																						ENST00000546361.2																			1	Substitution - Missense(1)	p.R748C(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2242-2244)Cgt>Tgt		calcium homeostasis endoplasmic reticulum protein							154.0	169.0	164.0					19																	16631278		2089	4201	6290	SO:0001624	3_prime_UTR_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16631278G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*414G>A	19.37:g.16631278G>A						CHERP_ENST00000198939.6_Missense_Mutation_p.R759C|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	p.R748C	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			14	2393	-			748			Arg-rich.		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2242C>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613787	0.66672	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.24151	1.87;1.87	5.01	5.01	0.66863	.	.	.	.	.	T	0.29028	0.0721	L	0.36672	1.1	0.58432	D	0.999994	D	0.69078	0.997	P	0.47044	0.535	T	0.05484	-1.0882	9	0.66056	D	0.02	-16.3964	17.2876	0.87146	0.0:0.0:1.0:0.0	.	748	Q8IWX8	CHERP_HUMAN	C	748;759	ENSP00000439856:R748C;ENSP00000198939:R759C	ENSP00000198939:R759C	R	-	1	0	CHERP	16492278	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.755000	0.55197	2.321000	0.78463	0.561000	0.74099	CGT		0.622	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		20	141	0	0	0	1	0	20	141				
TMEM155	132332	broad.mit.edu	37	4	122681480	122681480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122681480G>T	ENST00000337677.5	-	6	920	c.362C>A	c.(361-363)tCa>tAa	p.S121*	TMEM155_ENST00000394396.1_Nonsense_Mutation_p.S121*|TMEM155_ENST00000394394.1_Nonsense_Mutation_p.S121*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	121						extracellular region (GO:0005576)				breast(1)|lung(5)	6						agtagccaatgacacagttct	0.413																																						ENST00000337677.5																			0				breast(1)|lung(5)	6						c.(361-363)tCa>tAa		transmembrane protein 155							76.0	74.0	75.0					4																	122681480		2202	4300	6502	SO:0001587	stop_gained	132332					extracellular region		g.chr4:122681480G>T	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.362C>A	4.37:g.122681480G>T	ENSP00000336987:p.Ser121*					TMEM155_ENST00000394394.1_Nonsense_Mutation_p.S121*|TMEM155_ENST00000394396.1_Nonsense_Mutation_p.S121*	p.S121*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN			6	920	-			121					D3DNW9|Q96NI2	Nonsense_Mutation	SNP	ENST00000337677.5	37	c.362C>A	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140791	0.94560	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394	.	.	.	3.51	0.755	0.18415	.	1.528630	0.04801	N	0.433530	.	.	.	.	.	.	0.19945	N	0.999949	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	4.5236	3.5825	0.07958	0.2405:0.2115:0.548:0.0	.	.	.	.	X	121	.	ENSP00000336987:S121X	S	-	2	0	TMEM155	122900930	0.001000	0.12720	0.017000	0.16124	0.946000	0.59487	-0.176000	0.09811	0.113000	0.18004	0.650000	0.86243	TCA		0.413	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		15	20	1	0	7.93312e-07	1	9.21973e-07	15	20				
TCERG1L	256536	broad.mit.edu	37	10	132891569	132891569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:132891569C>A	ENST00000368642.4	-	12	1702	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	539	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGCAAACTCCTTAAACGTGG	0.473																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1615-1617)aaG>aaT		transcription elongation regulator 1-like							86.0	89.0	88.0					10																	132891569		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132891569C>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1617G>T	10.37:g.132891569C>A	ENSP00000357631:p.Lys539Asn						p.K539N	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	12	1702	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	539			FF 2.		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1617G>T	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743977	0.49151	.	.	ENSG00000176769	ENST00000368642	T	0.34275	1.37	4.68	-0.181	0.13291	FF domain (4);	0.230606	0.28382	N	0.015543	T	0.30541	0.0768	L	0.43152	1.355	0.49582	D	0.999805	D	0.61080	0.989	P	0.49192	0.602	T	0.09100	-1.0690	10	0.66056	D	0.02	-9.7643	4.1514	0.10240	0.1585:0.3606:0.0:0.4809	.	539	Q5VWI1	TCRGL_HUMAN	N	539	ENSP00000357631:K539N	ENSP00000357631:K539N	K	-	3	2	TCERG1L	132781559	0.732000	0.28121	0.899000	0.35326	0.559000	0.35586	-0.322000	0.08007	0.055000	0.16094	0.563000	0.77884	AAG		0.473	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		30	48	1	0	5.90632e-09	1	7.12364e-09	30	48				
CATSPERD	257062	broad.mit.edu	37	19	5778489	5778489	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5778489C>T	ENST00000381624.3	+	22	2260	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	733					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCTCCAGCATCCTGGGGTCCG	0.562																																						ENST00000381624.3																			0											c.(2197-2199)atC>atT		catsper channel auxiliary subunit delta							57.0	61.0	60.0					19																	5778489		2057	4209	6266	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5778489C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2199C>T	19.37:g.5778489C>T						CATSPERD_ENST00000309164.7_3'UTR	p.I733I	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			22	2260	+			733					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.2199C>T	CCDS12149.2																																																																																				0.562	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		20	31	0	0	0	1	0	20	31				
BEX2	84707	broad.mit.edu	37	X	102564673	102564673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102564673C>T	ENST00000372677.3	-	3	499	c.232G>A	c.(232-234)Gca>Aca	p.A78T	BEX2_ENST00000536889.1_Missense_Mutation_p.A110T|BEX2_ENST00000372674.1_Missense_Mutation_p.A78T	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	78					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						CTCATCCTTGCCTGTGGCTCT	0.512																																						ENST00000536889.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(328-330)Gca>Aca		brain expressed X-linked 2							239.0	199.0	213.0					X																	102564673		2203	4300	6503	SO:0001583	missense	84707				apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		g.chrX:102564673C>T	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.232G>A	X.37:g.102564673C>T	ENSP00000361762:p.Ala78Thr					BEX2_ENST00000372677.3_Missense_Mutation_p.A78T|BEX2_ENST00000372674.1_Missense_Mutation_p.A78T	p.A110T	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN			3	685	-			78					B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP	ENST00000372677.3	37	c.328G>A	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298330	0.60195	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674;ENST00000449185	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.19	3.33	0.38152	.	1.030530	0.07741	N	0.946990	T	0.23727	0.0574	M	0.68317	2.08	0.19945	N	0.999943	D;D	0.58970	0.984;0.965	P;P	0.57679	0.825;0.786	T	0.11372	-1.0590	10	0.30854	T	0.27	.	7.1499	0.25604	0.0:0.8774:0.0:0.1226	.	78;110	Q9BXY8;F5H7H5	BEX2_HUMAN;.	T	78;110;78;78	ENSP00000361762:A78T;ENSP00000442521:A110T;ENSP00000361759:A78T;ENSP00000394915:A78T	ENSP00000361759:A78T	A	-	1	0	BEX2	102451329	0.999000	0.42202	0.611000	0.29010	0.996000	0.88848	1.454000	0.35178	1.118000	0.41863	0.600000	0.82982	GCA		0.512	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		18	188	0	0	0	1	0	18	188				
HIRIP3	8479	broad.mit.edu	37	16	30004867	30004867	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30004867G>A	ENST00000279392.3	-	6	2250	c.1420C>T	c.(1420-1422)Cta>Tta	p.L474L	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_Missense_Mutation_p.P161L|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	474					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTTCCCTAGGGAAGGGGTA	0.632																																						ENST00000564026.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(481-483)cCt>cTt		HIRA interacting protein 3							53.0	56.0	55.0					16																	30004867		2197	4300	6497	SO:0001819	synonymous_variant	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30004867G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1420C>T	16.37:g.30004867G>A						HIRIP3_ENST00000279392.3_Silent_p.L474L	p.P161L	NM_001197323.1	NP_001184252.1	Q9BW71	HIRP3_HUMAN			5	519	-			0			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.482C>T	CCDS10664.1																																																																																				0.632	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		17	34	0	0	0	1	0	17	34				
NID1	4811	broad.mit.edu	37	1	236143157	236143157	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236143157G>A	ENST00000264187.6	-	18	3556	c.3474C>T	c.(3472-3474)agC>agT	p.S1158S	NID1_ENST00000366595.3_Silent_p.S1025S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1158					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TCTTCCCGTAGCTCGTCACAG	0.597																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(3472-3474)agC>agT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						89.0	79.0	82.0					1																	236143157		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236143157G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3474C>T	1.37:g.236143157G>A						NID1_ENST00000366595.3_Silent_p.S1025S	p.S1158S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		18	3556	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	1158					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.3474C>T	CCDS1608.1																																																																																				0.597	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		22	46	0	0	0	1	0	22	46				
LRRC4C	57689	broad.mit.edu	37	11	40137233	40137233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137233G>T	ENST00000278198.2	-	2	2573	c.610C>A	c.(610-612)Ctt>Att	p.L204I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L204I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	204					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACATGGCAAGGTTCAAATAC	0.453																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(610-612)Ctt>Att		leucine rich repeat containing 4C							95.0	91.0	92.0					11																	40137233		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137233G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.610C>A	11.37:g.40137233G>T	ENSP00000278198:p.Leu204Ile					LRRC4C_ENST00000530763.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L204I	p.L204I			Q9HCJ2	LRC4C_HUMAN			2	2573	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	204					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.610C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008478	0.54361	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	M	0.80746	2.51	0.80722	D	1	D	0.55172	0.97	D	0.65323	0.934	T	0.00909	-1.1518	10	0.31617	T	0.26	.	18.6316	0.91361	0.0:0.0:1.0:0.0	.	204	Q9HCJ2	LRC4C_HUMAN	I	204	ENSP00000278198:L204I;ENSP00000436976:L204I;ENSP00000437132:L204I;ENSP00000434761:L204I	ENSP00000278198:L204I	L	-	1	0	LRRC4C	40093809	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.352000	0.73027	2.644000	0.89710	0.650000	0.86243	CTT		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		29	69	1	0	1.88708e-17	1	2.44853e-17	29	69				
ATAD5	79915	broad.mit.edu	37	17	29184017	29184017	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29184017A>T	ENST00000321990.4	+	8	3058	c.2680A>T	c.(2680-2682)Act>Tct	p.T894S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	894					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTCTTAACTAAATTTAA	0.308																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(2680-2682)Act>Tct		ATPase family, AAA domain containing 5							122.0	114.0	117.0					17																	29184017		2202	4300	6502	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29184017A>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2680A>T	17.37:g.29184017A>T	ENSP00000313171:p.Thr894Ser					CTD-2349P21.11_ENST00000580873.1_RNA	p.T894S	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			8	3058	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	894					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.2680A>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766791	0.31320	.	.	ENSG00000176208	ENST00000321990	D	0.86297	-2.1	5.36	5.36	0.76844	.	0.590901	0.19117	N	0.122288	D	0.84009	0.5378	L	0.56769	1.78	0.33133	D	0.543407	B;B	0.31949	0.348;0.237	B;B	0.27608	0.081;0.02	D	0.86662	0.1905	10	0.37606	T	0.19	.	13.932	0.64001	1.0:0.0:0.0:0.0	.	894;894	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	S	894	ENSP00000313171:T894S	ENSP00000313171:T894S	T	+	1	0	ATAD5	26208143	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	3.111000	0.50360	2.014000	0.59158	0.482000	0.46254	ACT		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		6	38	0	0	0	1	0	6	38				
SYTL3	94120	broad.mit.edu	37	6	159084380	159084380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159084380C>T	ENST00000297239.9	+	3	274	c.80C>T	c.(79-81)gCg>gTg	p.A27V	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.A27V			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	27	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGAGACCAGGCGGTTCAAAAC	0.557																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(79-81)gCg>gTg		synaptotagmin-like 3							76.0	66.0	69.0					6																	159084380		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159084380C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.80C>T	6.37:g.159084380C>T	ENSP00000297239:p.Ala27Val					SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.A27V	p.A27V			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	3	274	+		Breast(66;0.000776)|Ovarian(120;0.0303)	27			RabBD.		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.80C>T	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	C	5.670	0.308148	0.10733	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.76578	-1.03;-1.03	5.44	-1.72	0.08107	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.928731	0.09358	N	0.813111	T	0.34890	0.0913	N	0.25890	0.77	0.22266	N	0.999245	B;B	0.31351	0.086;0.32	B;B	0.17979	0.009;0.02	T	0.09037	-1.0693	10	0.38643	T	0.18	-2.572	3.3173	0.07038	0.3984:0.3598:0.0919:0.1499	.	27;27	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	V	27	ENSP00000353631:A27V;ENSP00000297239:A27V	ENSP00000297239:A27V	A	+	2	0	SYTL3	159004368	0.014000	0.17966	0.000000	0.03702	0.004000	0.04260	-0.063000	0.11655	-0.418000	0.07450	-0.808000	0.03180	GCG		0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			16	23	0	0	0	1	0	16	23				
ZER1	10444	broad.mit.edu	37	9	131502228	131502228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131502228C>T	ENST00000291900.2	-	13	2430	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	675					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.R675Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GATGTTTCTCCGAGAGTTTAT	0.582																																						ENST00000291900.2																			1	Substitution - Missense(1)	p.R675Q(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(2023-2025)cGg>cAg		zyg-11 related, cell cycle regulator							153.0	130.0	138.0					9																	131502228		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131502228C>T	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2024G>A	9.37:g.131502228C>T	ENSP00000291900:p.Arg675Gln						p.R675Q	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			13	2430	-			675					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.2024G>A	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868674	0.91587	.	.	ENSG00000160445	ENST00000291900	T	0.45668	0.89	4.72	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.177305	0.46758	D	0.000267	T	0.54382	0.1855	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.43734	-0.9373	10	0.18276	T	0.48	-28.3448	16.8443	0.85976	0.0:1.0:0.0:0.0	.	675	Q7Z7L7	ZER1_HUMAN	Q	675	ENSP00000291900:R675Q	ENSP00000291900:R675Q	R	-	2	0	ZER1	130542049	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.421000	0.66447	2.427000	0.82271	0.650000	0.86243	CGG		0.582	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		21	32	0	0	0	1	0	21	32				
LARP4B	23185	broad.mit.edu	37	10	875496	875496	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:875496A>G	ENST00000316157.3	-	10	994	c.954T>C	c.(952-954)ttT>ttC	p.F318F		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	318					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTTTGGCAAAAATGTGTTTA	0.428																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(952-954)ttT>ttC		La ribonucleoprotein domain family, member 4B							115.0	89.0	98.0					10																	875496		2203	4300	6503	SO:0001819	synonymous_variant	23185						nucleotide binding|RNA binding	g.chr10:875496A>G	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.954T>C	10.37:g.875496A>G							p.F318F	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			10	994	-			318					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	c.954T>C	CCDS31131.1																																																																																				0.428	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		6	47	0	0	0	1	0	6	47				
MYRF	745	broad.mit.edu	37	11	61549094	61549094	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61549094C>A	ENST00000278836.5	+	22	2910	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Silent_p.S329S|MYRF_ENST00000265460.5_Silent_p.S903S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	938					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGCCAAGTCCTGGGGTCTTT	0.597																																						ENST00000278836.5																			0											c.(2812-2814)tcC>tcA		myelin regulatory factor							60.0	68.0	65.0					11																	61549094		2202	4299	6501	SO:0001819	synonymous_variant	745							g.chr11:61549094C>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2814C>A	11.37:g.61549094C>A						MYRF_ENST00000265460.5_Silent_p.S903S|MYRF_ENST00000389602.4_Silent_p.S329S|TMEM258_ENST00000535042.1_Intron	p.S938S	NM_001127392.1	NP_001120864.1					22	2910	+								O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.2814C>A	CCDS44622.1																																																																																				0.597	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		8	84	1	0	5.18039e-06	1	5.91835e-06	8	84				
GPR113	165082	broad.mit.edu	37	2	26536733	26536733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26536733G>T	ENST00000311519.1	-	8	1170	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	GPR113_ENST00000541401.1_De_novo_Start_InFrame|GPR113_ENST00000333478.6_Missense_Mutation_p.L192M|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.L322M	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	391					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACAGCCAGCACAAAGCAC	0.592																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(574-576)Ctg>Atg		G protein-coupled receptor 113							109.0	106.0	107.0					2																	26536733		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26536733G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1171C>A	2.37:g.26536733G>T	ENSP00000307831:p.Leu391Met					GPR113_ENST00000541401.1_De_novo_Start_InFrame|GPR113_ENST00000421160.2_Missense_Mutation_p.L322M|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.L391M	p.L192M	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			5	1156	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		391					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.574C>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652721	0.96724	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519	T;T;T	0.09538	2.97;2.97;2.97	5.4	0.532	0.17114	.	.	.	.	.	T	0.22282	0.0537	L	0.59436	1.845	0.09310	N	0.999999	D;D;D	0.69078	0.972;0.997;0.99	P;D;P	0.68353	0.827;0.957;0.862	T	0.08269	-1.0730	9	0.52906	T	0.07	-2.848	5.7788	0.18294	0.2463:0.0:0.6186:0.1351	.	322;192;391	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	M	192;322;391	ENSP00000327396:L192M;ENSP00000388537:L322M;ENSP00000307831:L391M	ENSP00000307831:L391M	L	-	1	2	GPR113	26390237	0.005000	0.15991	0.007000	0.13788	0.001000	0.01503	0.371000	0.20450	0.090000	0.17273	-2.106000	0.00359	CTG		0.592	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		4	47	1	0	0.00024832	1	0.0002712	4	47				
GALNT14	79623	broad.mit.edu	37	2	31133788	31133788	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31133788G>A	ENST00000349752.5	-	15	2277	c.1638C>T	c.(1636-1638)caC>caT	p.H546H	GALNT14_ENST00000406653.1_Silent_p.H526H|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.H513H|GALNT14_ENST00000324589.5_Silent_p.H551H|GALNT14_ENST00000420311.2_Silent_p.H511H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	546	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCATGTCCCAGTGCTGGCTCA	0.572																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1636-1638)caC>caT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							134.0	108.0	117.0					2																	31133788		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31133788G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1638C>T	2.37:g.31133788G>A						GALNT14_ENST00000356174.3_Silent_p.H513H|GALNT14_ENST00000420311.2_Silent_p.H511H|GALNT14_ENST00000324589.5_Silent_p.H551H|GALNT14_ENST00000406653.1_Silent_p.H526H|GALNT14_ENST00000486564.1_5'UTR	p.H546H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			15	2277	-	Acute lymphoblastic leukemia(172;0.155)		546			Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.1638C>T	CCDS1773.2																																																																																				0.572	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		20	38	0	0	0	1	0	20	38				
LUZP1	7798	broad.mit.edu	37	1	23419182	23419182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23419182C>T	ENST00000302291.4	-	4	2374	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	LUZP1_ENST00000374623.3_Missense_Mutation_p.G525S|LUZP1_ENST00000314174.5_Missense_Mutation_p.G525S|LUZP1_ENST00000418342.1_Missense_Mutation_p.G525S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	525					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAGCTCTACCCAATGGGTCA	0.532																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1573-1575)Ggt>Agt		leucine zipper protein 1							188.0	180.0	182.0					1																	23419182		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419182C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1573G>A	1.37:g.23419182C>T	ENSP00000303758:p.Gly525Ser					LUZP1_ENST00000314174.5_Missense_Mutation_p.G525S|LUZP1_ENST00000374623.3_Missense_Mutation_p.G525S|LUZP1_ENST00000418342.1_Missense_Mutation_p.G525S	p.G525S			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2374	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	525					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1573G>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	3.151	-0.174244	0.06421	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.14391	2.72;2.72;2.72;2.51	5.73	2.8	0.32819	.	0.297828	0.24481	N	0.038144	T	0.08358	0.0208	L	0.41236	1.265	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.12156	0.007;0.007	T	0.39583	-0.9607	10	0.07644	T	0.81	.	4.5779	0.12243	0.1515:0.559:0.0:0.2895	.	525;525	Q86V48-2;Q86V48	.;LUZP1_HUMAN	S	525	ENSP00000393460:G525S;ENSP00000363752:G525S;ENSP00000303758:G525S;ENSP00000313705:G525S	ENSP00000303758:G525S	G	-	1	0	LUZP1	23291769	0.000000	0.05858	0.267000	0.24556	0.296000	0.27459	0.675000	0.25232	0.763000	0.33175	0.650000	0.86243	GGT		0.532	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		20	146	0	0	0	1	0	20	146				
SMYD4	114826	broad.mit.edu	37	17	1731227	1731227	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1731227G>A	ENST00000305513.7	-	2	229	c.62C>T	c.(61-63)aCg>aTg	p.T21M	RPA1_ENST00000254719.5_5'Flank|AC130689.1_ENST00000582190.1_RNA	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	21							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGAACAGACGTCGGGAGTGA	0.398																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(61-63)aCg>aTg		SET and MYND domain containing 4							107.0	97.0	100.0					17																	1731227		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1731227G>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.62C>T	17.37:g.1731227G>A	ENSP00000304360:p.Thr21Met						p.T21M	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			2	229	-			21					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.62C>T	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	G	3.609	-0.080009	0.07141	.	.	ENSG00000186532	ENST00000305513	T	0.10005	2.92	4.63	-3.02	0.05446	.	0.729658	0.13925	N	0.353292	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	P	0.49358	0.923	B	0.34242	0.178	T	0.41610	-0.9499	10	0.51188	T	0.08	-0.0177	7.3137	0.26489	0.2357:0.0:0.5747:0.1896	.	21	Q8IYR2	SMYD4_HUMAN	M	21	ENSP00000304360:T21M	ENSP00000304360:T21M	T	-	2	0	SMYD4	1677977	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.175000	0.16762	-0.738000	0.04817	-1.961000	0.00478	ACG		0.398	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		24	36	0	0	0	1	0	24	36				
NR1D2	9975	broad.mit.edu	37	3	24006638	24006638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24006638G>T	ENST00000312521.4	+	6	1636	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	439	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACCTTTTAAAGGCTGGGACTT	0.388																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(1315-1317)aaG>aaT		nuclear receptor subfamily 1, group D, member 2							127.0	123.0	124.0					3																	24006638		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24006638G>T	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1317G>T	3.37:g.24006638G>T	ENSP00000310006:p.Lys439Asn					NR1D2_ENST00000492552.1_3'UTR	p.K439N	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			6	1636	+			439					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.1317G>T	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813087	0.70912	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97941	-4.62	5.63	1.8	0.24995	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98730	1.0712	10	0.62326	D	0.03	.	10.8931	0.47006	0.2647:0.0:0.7353:0.0	.	439	Q14995	NR1D2_HUMAN	N	439	ENSP00000310006:K439N	ENSP00000310006:K439N	K	+	3	2	NR1D2	23981642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.022000	0.57203	0.414000	0.25790	0.655000	0.94253	AAG		0.388	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			13	133	1	0	6.31663e-08	1	7.49729e-08	13	133				
CHST8	64377	broad.mit.edu	37	19	34263486	34263486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34263486G>A	ENST00000262622.4	+	4	1551	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	CHST8_ENST00000434302.1_Missense_Mutation_p.V265M|CHST8_ENST00000438847.3_Missense_Mutation_p.V265M	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	265					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGAGGCTGGTGTCCGCCTT	0.622																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(793-795)Gtg>Atg		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							97.0	91.0	93.0					19																	34263486		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263486G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.793G>A	19.37:g.34263486G>A	ENSP00000262622:p.Val265Met					CHST8_ENST00000434302.1_Missense_Mutation_p.V265M|CHST8_ENST00000438847.2_Missense_Mutation_p.V265M	p.V265M	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1551	+	Esophageal squamous(110;0.162)		265					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.793G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371647	0.82573	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.78003	-1.14;-1.14;-1.14	4.87	4.87	0.63330	.	0.077681	0.49916	D	0.000123	D	0.89550	0.6747	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.91644	0.5329	10	0.87932	D	0	-1.0518	16.9921	0.86356	0.0:0.0:1.0:0.0	.	265	Q9H2A9	CHST8_HUMAN	M	265	ENSP00000392604:V265M;ENSP00000393879:V265M;ENSP00000262622:V265M	ENSP00000262622:V265M	V	+	1	0	CHST8	38955326	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	9.869000	0.99810	2.241000	0.73720	0.297000	0.19635	GTG		0.622	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		6	44	0	0	0	1	0	6	44				
NUP210L	91181	broad.mit.edu	37	1	154125288	154125288	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154125288A>G	ENST00000368559.3	-	2	335	c.264T>C	c.(262-264)tgT>tgC	p.C88C	NUP210L_ENST00000271854.3_Silent_p.C88C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	88					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTTTTGGGAACACAAGGTGC	0.413																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(262-264)tgT>tgC		nucleoporin 210kDa-like							123.0	117.0	119.0					1																	154125288		1930	4129	6059	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154125288A>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.264T>C	1.37:g.154125288A>G						NUP210L_ENST00000271854.3_Silent_p.C88C	p.C88C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		2	335	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		88					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.264T>C	CCDS41399.1																																																																																				0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		31	40	0	0	0	1	0	31	40				
TDRD5	163589	broad.mit.edu	37	1	179562841	179562841	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179562841G>T	ENST00000367614.1	+	3	838	c.479G>T	c.(478-480)aGa>aTa	p.R160I	TDRD5_ENST00000444136.1_Missense_Mutation_p.R160I|TDRD5_ENST00000294848.8_Missense_Mutation_p.R160I|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	160	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGCCAAAAGATTTGGACGA	0.418																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(478-480)aGa>aTa		tudor domain containing 5							162.0	155.0	157.0					1																	179562841		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179562841G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.479G>T	1.37:g.179562841G>T	ENSP00000356586:p.Arg160Ile					TDRD5_ENST00000367614.1_Missense_Mutation_p.R160I|TDRD5_ENST00000294848.8_Missense_Mutation_p.R160I	p.R160I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			3	729	+			160			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.479G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135568	0.77662	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.45668	0.89;0.89;0.89	5.79	5.79	0.91817	.	0.652462	0.14297	N	0.328527	T	0.54013	0.1832	L	0.27053	0.805	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.985	T	0.44651	-0.9314	10	0.32370	T	0.25	-10.7281	18.5919	0.91215	0.0:0.0:1.0:0.0	.	160;160	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	I	160	ENSP00000356586:R160I;ENSP00000294848:R160I;ENSP00000406052:R160I	ENSP00000294848:R160I	R	+	2	0	TDRD5	177829464	0.997000	0.39634	0.988000	0.46212	0.729000	0.41735	4.243000	0.58721	2.727000	0.93392	0.655000	0.94253	AGA		0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		11	151	1	0	1.08611e-07	1	1.2824e-07	11	151				
ALS2CR12	130540	broad.mit.edu	37	2	202153498	202153498	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202153498C>A	ENST00000286190.5	-	14	1264	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.K383N|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.K406N|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.K383N			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	406					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TAGAAATTATCTTTTGCCTGT	0.378																																						ENST00000405148.2																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1216-1218)aaG>aaT		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12							74.0	73.0	73.0					2																	202153498		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202153498C>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1218G>T	2.37:g.202153498C>A	ENSP00000286190:p.Lys406Asn					ALS2CR12_ENST00000286190.5_Missense_Mutation_p.K406N|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.K383N|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.K383N	p.K406N	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			15	1661	-			406					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.1218G>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319761	0.23994	.	.	ENSG00000155749	ENST00000286190;ENST00000415745;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.44083	0.93;0.93;0.94;0.94	4.4	2.49	0.30216	.	0.129138	0.35013	N	0.003504	T	0.37571	0.1008	L	0.29908	0.895	0.09310	N	1	D;P	0.57571	0.98;0.944	P;P	0.52957	0.714;0.714	T	0.12528	-1.0544	10	0.49607	T	0.09	-13.7935	7.1421	0.25562	0.0:0.6672:0.0:0.3328	.	406;383	Q96Q35;G5E9S3	AL2SB_HUMAN;.	N	406;121;406;383;383	ENSP00000286190:K406N;ENSP00000385098:K406N;ENSP00000376086:K383N;ENSP00000412073:K383N	ENSP00000286190:K406N	K	-	3	2	ALS2CR12	201861743	0.914000	0.31030	0.191000	0.23289	0.214000	0.24535	0.645000	0.24782	0.512000	0.28257	0.591000	0.81541	AAG		0.378	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		21	34	1	0	4.96729e-08	1	5.9048e-08	21	34				
C5orf24	134553	broad.mit.edu	37	5	134190879	134190879	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134190879A>G	ENST00000394976.3	+	2	517	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	C5orf24_ENST00000338051.4_Missense_Mutation_p.T97A|C5orf24_ENST00000435259.2_Missense_Mutation_p.T97A|C5orf24_ENST00000504727.1_Missense_Mutation_p.T97A	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	97										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCGGGAACCACCAAATCAGC	0.493																																						ENST00000394976.3																			0				breast(2)|endometrium(2)|lung(2)	6						c.(289-291)Acc>Gcc		chromosome 5 open reading frame 24							70.0	80.0	77.0					5																	134190879		2203	4300	6503	SO:0001583	missense	134553							g.chr5:134190879A>G	BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.289A>G	5.37:g.134190879A>G	ENSP00000378427:p.Thr97Ala					C5orf24_ENST00000504727.1_Missense_Mutation_p.T97A|C5orf24_ENST00000338051.4_Missense_Mutation_p.T97A|C5orf24_ENST00000435259.2_Missense_Mutation_p.T97A	p.T97A	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	517	+			97					D3DQA7|Q86Y53|Q8N1T9	Missense_Mutation	SNP	ENST00000394976.3	37	c.289A>G	CCDS4179.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266450	0.80358	.	.	ENSG00000181904	ENST00000338051;ENST00000394976;ENST00000504727;ENST00000435259	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.70532	-0.4846	9	0.87932	D	0	-4.9803	16.4622	0.84064	1.0:0.0:0.0:0.0	.	97;97	Q7Z6I8-2;Q7Z6I8	.;CE024_HUMAN	A	97	.	ENSP00000337044:T97A	T	+	1	0	C5orf24	134218778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.289000	0.77006	0.533000	0.62120	ACC		0.493	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251167.1	NM_152409		18	53	0	0	0	1	0	18	53				
MYLIP	29116	broad.mit.edu	37	6	16145221	16145221	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145221T>C	ENST00000356840.3	+	6	1119	c.921T>C	c.(919-921)ctT>ctC	p.L307L	MYLIP_ENST00000349606.4_Silent_p.L126L	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	307					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACATTAACCTTGGCAAGAAAT	0.463																																						ENST00000349606.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(376-378)ctT>ctC		myosin regulatory light chain interacting protein							132.0	137.0	135.0					6																	16145221		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145221T>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.921T>C	6.37:g.16145221T>C						MYLIP_ENST00000356840.3_Silent_p.L307L	p.L126L			Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	882	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	307			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.378T>C	CCDS4536.1																																																																																				0.463	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		46	63	0	0	0	1	0	46	63				
TMEM39A	55254	broad.mit.edu	37	3	119176890	119176890	+	Missense_Mutation	SNP	T	T	G	rs199861750	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119176890T>G	ENST00000319172.5	-	3	731	c.311A>C	c.(310-312)aAt>aCt	p.N104T	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	104						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGCAGGATGATTGTAAGGATA	0.373													T|||	2	0.000399361	0.0	0.0	5008	,	,		18220	0.002		0.0	False		,,,				2504	0.0					ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(310-312)aAt>aCt		transmembrane protein 39A							138.0	141.0	140.0					3																	119176890		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119176890T>G	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.311A>C	3.37:g.119176890T>G	ENSP00000326063:p.Asn104Thr					TMEM39A_ENST00000486159.1_5'UTR	p.N104T	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	3	731	-			104					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.311A>C	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583802	0.46006	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993;ENST00000461654	T	0.41400	1.0	4.77	3.62	0.41486	.	0.136077	0.64402	D	0.000003	T	0.28566	0.0707	N	0.22421	0.69	0.43149	D	0.994913	B	0.29481	0.245	B	0.28916	0.096	T	0.12967	-1.0527	10	0.66056	D	0.02	-10.7611	9.6443	0.39857	0.0:0.0824:0.0:0.9176	.	104	Q9NV64	TM39A_HUMAN	T	104	ENSP00000326063:N104T	ENSP00000326063:N104T	N	-	2	0	TMEM39A	120659580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.899000	0.48679	0.963000	0.38082	0.460000	0.39030	AAT		0.373	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		12	97	0	0	0	1	0	12	97				
FNDC3B	64778	broad.mit.edu	37	3	171969176	171969176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171969176C>T	ENST00000336824.4	+	6	734	c.635C>T	c.(634-636)tCt>tTt	p.S212F	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S212F|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S212F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	212				S -> A (in Ref. 1; BAC53727). {ECO:0000305}.	cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.S212delS(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTCCTTCTTCTATCTACAAA	0.537																																						ENST00000336824.4																			1	Deletion - In frame(1)	p.S212delS(1)	prostate(1)	breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(634-636)tCt>tTt		fibronectin type III domain containing 3B							72.0	72.0	72.0					3																	171969176		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:171969176C>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.635C>T	3.37:g.171969176C>T	ENSP00000338523:p.Ser212Phe					FNDC3B_ENST00000415807.2_Missense_Mutation_p.S212F|FNDC3B_ENST00000416957.1_Missense_Mutation_p.S212F	p.S212F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	6	734	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		212	S -> A (in Ref. 1; BAC53727).				B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.635C>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786345	0.90367	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.78	5.78	0.91487	.	0.161370	0.53938	D	0.000047	T	0.52517	0.1739	M	0.62723	1.935	0.80722	D	1	P;B	0.35656	0.514;0.007	B;B	0.37239	0.244;0.02	T	0.56238	-0.8012	10	0.87932	D	0	-16.3225	20.0114	0.97452	0.0:1.0:0.0:0.0	.	212;212	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	F	212;212;212;185	ENSP00000411242:S212F;ENSP00000338523:S212F;ENSP00000389094:S212F;ENSP00000389064:S185F	ENSP00000338523:S212F	S	+	2	0	FNDC3B	173451870	1.000000	0.71417	0.362000	0.25862	0.904000	0.53231	6.982000	0.76173	2.732000	0.93576	0.591000	0.81541	TCT		0.537	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		10	23	0	0	0	1	0	10	23				
CSTF3	1479	broad.mit.edu	37	11	33163271	33163271	+	Missense_Mutation	SNP	C	C	T	rs370295642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33163271C>T	ENST00000323959.4	-	3	306	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000431742.2_3'UTR|CSTF3_ENST00000438862.2_Missense_Mutation_p.R56H|CSTF3_ENST00000524827.1_Missense_Mutation_p.R88H	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	56					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGCAACAAGGCGTTCATAAGT	0.343																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(166-168)cGc>cAc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa		C	HIS/ARG,,HIS/ARG	0,4404		0,0,2202	75.0	68.0	70.0		167,,167	5.7	1.0	11		70	1,8595	1.2+/-3.3	0,1,4297	no	missense,utr-3,missense	CSTF3	NM_001033505.1,NM_001033506.1,NM_001326.2	29,,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	56/104,,56/718	33163271	1,12999	2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33163271C>T	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.167G>A	11.37:g.33163271C>T	ENSP00000315791:p.Arg56His					CSTF3_ENST00000431742.2_3'UTR|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_Missense_Mutation_p.R88H|CSTF3_ENST00000438862.2_Missense_Mutation_p.R56H	p.R56H	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			3	306	-			56					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.167G>A	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207489	0.58343	0.0	1.16E-4	ENSG00000176102	ENST00000323959;ENST00000524827;ENST00000438862;ENST00000524775	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);	0.126684	0.53938	N	0.000049	T	0.67951	0.2948	M	0.81802	2.56	0.80722	D	1	D;B	0.76494	0.999;0.39	D;B	0.67231	0.95;0.03	T	0.70802	-0.4773	10	0.72032	D	0.01	.	19.9048	0.97002	0.0:1.0:0.0:0.0	.	56;56	Q96QK4;Q12996	.;CSTF3_HUMAN	H	56;88;56;56	ENSP00000315791:R56H;ENSP00000431355:R88H;ENSP00000388711:R56H;ENSP00000431903:R56H	ENSP00000315791:R56H	R	-	2	0	CSTF3	33119847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.782000	0.85680	2.708000	0.92522	0.650000	0.86243	CGC		0.343	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		14	23	0	0	0	1	0	14	23				
RNF213	57674	broad.mit.edu	37	17	78317077	78317077	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78317077G>A	ENST00000582970.1	+	27	6278	c.6135G>A	c.(6133-6135)gcG>gcA	p.A2045A	RNF213_ENST00000336301.6_Silent_p.A118A|RNF213_ENST00000508628.2_Silent_p.A2094A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2045					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTGGATGCGCAGTATCAGA	0.562																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(6133-6135)gcG>gcA		ring finger protein 213							68.0	57.0	61.0					17																	78317077		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78317077G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6135G>A	17.37:g.78317077G>A						RNF213_ENST00000336301.6_Silent_p.A118A|RNF213_ENST00000508628.2_Silent_p.A2094A	p.A2045A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		27	6278	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.6135G>A	CCDS58606.1																																																																																				0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	10	0	0	0	1	0	12	10				
AKAP17A	8227	broad.mit.edu	37	X	1713084	1713084	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1713084C>T	ENST00000313871.3	+	2	925	c.729C>T	c.(727-729)ggC>ggT	p.G243G	AKAP17A_ENST00000381261.3_Silent_p.G243G	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	243	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGTACAAGGGCGAGGACGGCA	0.622																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(727-729)ggC>ggT		A kinase (PRKA) anchor protein 17A							80.0	78.0	78.0					X																	1713084		2203	4296	6499	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1713084C>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.729C>T	X.37:g.1713084C>T						AKAP17A_ENST00000381261.3_Silent_p.G243G	p.G243G	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	925	+			243			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.729C>T	CCDS14116.1																																																																																				0.622	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		7	73	0	0	0	1	0	7	73				
DGCR2	9993	broad.mit.edu	37	22	19048416	19048416	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19048416G>A	ENST00000263196.7	-	5	873				DGCR2_ENST00000545799.1_Silent_p.V223V|DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2						cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCAGGGTACCGACACATGGGC	0.522																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(667-669)gtC>gtT		DiGeorge syndrome critical region gene 2							28.0	26.0	27.0					22																	19048416		876	1991	2867	SO:0001627	intron_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19048416G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.625+2298C>T	22.37:g.19048416G>A						DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000263196.7_Intron	p.V223V			P98153	IDD_HUMAN			6	869	-	Colorectal(54;0.0993)		0			C-type lectin.		A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.669C>T	CCDS33598.1																																																																																				0.522	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		5	8	0	0	0	1	0	5	8				
NRD1	4898	broad.mit.edu	37	1	52289367	52289367	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52289367A>C	ENST00000354831.7	-	9	1521	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	NRD1_ENST00000544028.1_Silent_p.S244S|NRD1_ENST00000539524.1_Silent_p.S312S|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.S376S	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	375					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCATGTAATGAGAAGAGTAGT	0.368																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1330-1332)tcT>tcG		nardilysin (N-arginine dibasic convertase)							103.0	101.0	101.0					1																	52289367		2203	4299	6502	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52289367A>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1332T>G	1.37:g.52289367A>C						NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.S312S|NRD1_ENST00000544028.1_Silent_p.S244S|NRD1_ENST00000352171.7_Silent_p.S376S	p.S444S	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			9	1521	-			375					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.1332T>G	CCDS559.1																																																																																				0.368	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		5	95	0	0	0	1	0	5	95				
MED12	9968	broad.mit.edu	37	X	70354681	70354681	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70354681C>A	ENST00000374080.3	+	35	4878	c.4846C>A	c.(4846-4848)Ctg>Atg	p.L1616M	MED12_ENST00000333646.6_Missense_Mutation_p.L1616M|MED12_ENST00000374102.1_Missense_Mutation_p.L1616M			Q93074	MED12_HUMAN	mediator complex subunit 12	1616	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATACATGAACCTGGCGAAGAA	0.537			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4846-4848)Ctg>Atg		mediator complex subunit 12							71.0	63.0	66.0					X																	70354681		2085	4206	6291	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70354681C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4846C>A	X.37:g.70354681C>A	ENSP00000363193:p.Leu1616Met					MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.L1616M|MED12_ENST00000374080.3_Missense_Mutation_p.L1616M	p.L1616M	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			35	5045	+	Renal(35;0.156)		1616			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4846C>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	14.60	2.584377	0.46110	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.71103	-0.53;-0.12;-0.54;-0.12;0.48	4.28	2.49	0.30216	.	0.000000	0.64402	D	0.000002	T	0.78761	0.4334	M	0.64404	1.975	0.52501	D	0.999952	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.994;0.999;0.991	T	0.78422	-0.2210	10	0.87932	D	0	-4.0619	8.3426	0.32252	0.0:0.7307:0.0:0.2693	.	1616;1463;1616;1616	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	M	1616;1616;1616;1616;1584;361	ENSP00000333125:L1616M;ENSP00000363215:L1616M;ENSP00000363193:L1616M;ENSP00000414203:L1584M;ENSP00000408388:L361M	ENSP00000333125:L1616M	L	+	1	2	MED12	70271406	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	1.872000	0.39549	0.950000	0.37743	-0.295000	0.09555	CTG		0.537	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	48	1	0	0.014758	1	0.0152625	4	48				
DAPK3	1613	broad.mit.edu	37	19	3964928	3964928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964928T>C	ENST00000545797.2	-	3	367	c.124A>G	c.(124-126)Aag>Gag	p.K42E	DAPK3_ENST00000301264.3_Missense_Mutation_p.K42E			O43293	DAPK3_HUMAN	death-associated protein kinase 3	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGATGAACTTGGCTGCGTAC	0.667																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(124-126)Aag>Gag		death-associated protein kinase 3							73.0	73.0	73.0					19																	3964928		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964928T>C	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.124A>G	19.37:g.3964928T>C	ENSP00000442973:p.Lys42Glu					DAPK3_ENST00000301264.3_Missense_Mutation_p.K42E	p.K42E			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	367	-		Hepatocellular(1079;0.137)	42			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.124A>G	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869080	0.91587	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.79033	-1.23;-1.23	5.7	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92619	0.7655	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93569	0.6902	10	0.87932	D	0	.	11.2268	0.48888	0.1373:0.0:0.0:0.8627	.	42	O43293	DAPK3_HUMAN	E	42	ENSP00000301264:K42E;ENSP00000442973:K42E	ENSP00000301264:K42E	K	-	1	0	DAPK3	3915928	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.834000	0.86773	0.933000	0.37291	0.459000	0.35465	AAG		0.667	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		8	40	0	0	0	1	0	8	40				
DSC3	1825	broad.mit.edu	37	18	28576966	28576966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28576966C>A	ENST00000360428.4	-	15	2364	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	DSC3_ENST00000434452.1_Missense_Mutation_p.G762C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	762					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCACAAAAACCTTGGCTAGAG	0.413																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2284-2286)Ggt>Tgt		desmocollin 3							89.0	77.0	81.0					18																	28576966		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576966C>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2284G>T	18.37:g.28576966C>A	ENSP00000353608:p.Gly762Cys					DSC3_ENST00000360428.4_Missense_Mutation_p.G762C	p.G762C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2438	-			762					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2284G>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679464	0.14907	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.57436	0.4;0.44	4.64	3.74	0.42951	.	1.291270	0.06065	N	0.659077	T	0.71779	0.3380	M	0.74258	2.255	0.46849	D	0.999222	D;D	0.67145	0.992;0.996	P;P	0.61003	0.832;0.882	T	0.62210	-0.6902	10	0.87932	D	0	.	12.9532	0.58413	0.0:0.8368:0.1632:0.0	.	762;762	Q14574;Q14574-2	DSC3_HUMAN;.	C	762	ENSP00000353608:G762C;ENSP00000392068:G762C	ENSP00000353608:G762C	G	-	1	0	DSC3	26830964	0.267000	0.24122	0.995000	0.50966	0.544000	0.35116	1.175000	0.31944	1.254000	0.44035	0.655000	0.94253	GGT		0.413	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		5	42	1	0	0.00116845	1	0.00124821	5	42				
MMP3	4314	broad.mit.edu	37	11	102709846	102709846	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102709846A>G	ENST00000299855.5	-	7	1320	c.1064T>C	c.(1063-1065)tTt>tCt	p.F355S	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	355					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	ATTACCTTTAAAAATGAAAAC	0.368																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1063-1065)tTt>tCt		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						69.0	75.0	73.0					11																	102709846		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709846A>G	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1064T>C	11.37:g.102709846A>G	ENSP00000299855:p.Phe355Ser						p.F355S	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1320	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	355			Hemopexin-like 2.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1064T>C	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049148	0.75846	.	.	ENSG00000149968	ENST00000299855	T	0.23950	1.88	5.58	5.58	0.84498	Hemopexin/matrixin (2);	0.114616	0.34906	N	0.003600	T	0.67730	0.2924	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80975	-0.1142	10	0.87932	D	0	.	15.9198	0.79552	1.0:0.0:0.0:0.0	.	355	P08254	MMP3_HUMAN	S	355	ENSP00000299855:F355S	ENSP00000299855:F355S	F	-	2	0	MMP3	102215056	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	6.537000	0.73847	2.343000	0.79666	0.533000	0.62120	TTT		0.368	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		7	68	0	0	0	1	0	7	68				
KIF19	124602	broad.mit.edu	37	17	72345413	72345413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72345413C>T	ENST00000389916.4	+	10	1276	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	380					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACTCAAGCGCAAGATTGA	0.632																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1138-1140)Cgc>Tgc		kinesin family member 19							53.0	48.0	49.0					17																	72345413		2202	4300	6502	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345413C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1138C>T	17.37:g.72345413C>T	ENSP00000374566:p.Arg380Cys						p.R380C	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			10	1276	+			380					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1138C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	T	9.513	1.106142	0.20632	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.73152	-0.72;-0.72	5.73	0.0847	0.14439	.	.	.	.	.	T	0.41305	0.1153	N	0.04043	-0.29	0.29681	N	0.841728	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.10450	0.0;0.001;0.005;0.005	T	0.24977	-1.0145	9	0.38643	T	0.18	.	1.6588	0.02787	0.1278:0.2322:0.3431:0.2969	.	380;338;338;380	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	C	338;380	ENSP00000449134:R338C;ENSP00000374566:R380C	ENSP00000374566:R380C	R	+	1	0	KIF19	69857008	0.649000	0.27322	0.849000	0.33467	0.003000	0.03518	-0.261000	0.08694	-0.224000	0.09928	-0.369000	0.07265	CGC		0.632	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		10	20	0	0	0	1	0	10	20				
ZNF35	7584	broad.mit.edu	37	3	44701410	44701410	+	Nonsense_Mutation	SNP	C	C	T	rs148645131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44701410C>T	ENST00000396056.2	+	4	1790	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R359*|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	519					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACACCTCATGCGACACCATAG	0.498																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(1555-1557)Cga>Tga		zinc finger protein 35		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		1555	1.0	1.0	3	dbSNP_134	75	0,8600		0,0,4300	no	stop-gained	ZNF35	NM_003420.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		519/528	44701410	1,13005	2203	4300	6503	SO:0001587	stop_gained	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44701410C>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1555C>T	3.37:g.44701410C>T	ENSP00000379368:p.Arg519*					ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R359*	p.R519*	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	1790	+		Ovarian(412;0.0228)	519					B2RBU6|Q53Y54|Q96D01	Nonsense_Mutation	SNP	ENST00000396056.2	37	c.1555C>T	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	C	35	5.552214	0.96501	2.27E-4	0.0	ENSG00000169981	ENST00000396056;ENST00000542250	.	.	.	4.97	0.986	0.19784	.	0.000000	0.39544	N	0.001331	.	.	.	.	.	.	0.42623	D	0.993355	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-15.1339	7.2049	0.25901	0.5883:0.328:0.0:0.0836	.	.	.	.	X	519;359	.	ENSP00000379368:R519X	R	+	1	2	ZNF35	44676414	0.000000	0.05858	0.956000	0.39512	0.996000	0.88848	-0.422000	0.07043	0.324000	0.23333	0.655000	0.94253	CGA		0.498	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		29	33	0	0	0	1	0	29	33				
KCNAB3	9196	broad.mit.edu	37	17	7827318	7827318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7827318G>A	ENST00000303790.2	-	11	894	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	299					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCTGGGACTCGCCCATCATAC	0.552																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(895-897)Cga>Tga		potassium voltage-gated channel, shaker-related subfamily, beta member 3							63.0	63.0	63.0					17																	7827318		2203	4300	6503	SO:0001587	stop_gained	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7827318G>A	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.895C>T	17.37:g.7827318G>A	ENSP00000302719:p.Arg299*						p.R299*	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			11	894	-		Prostate(122;0.157)	299					Q4VAW0	Nonsense_Mutation	SNP	ENST00000303790.2	37	c.895C>T	CCDS11124.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673747	0.88445	.	.	ENSG00000170049	ENST00000303790	.	.	.	5.64	4.62	0.57501	.	0.291164	0.38005	N	0.001846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	7.4464	0.27213	0.0:0.2516:0.4778:0.2706	.	.	.	.	X	299	.	ENSP00000302719:R299X	R	-	1	2	KCNAB3	7768043	0.050000	0.20438	0.294000	0.24946	0.919000	0.55068	2.790000	0.47821	2.663000	0.90544	0.561000	0.74099	CGA		0.552	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		11	15	0	0	0	1	0	11	15				
KLF8	11279	broad.mit.edu	37	X	56291821	56291821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56291821C>A	ENST00000468660.1	+	3	578	c.290C>A	c.(289-291)cCt>cAt	p.P97H	KLF8_ENST00000374928.3_Missense_Mutation_p.P97H	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CCCAAGGCTCCTCTCCAGCCT	0.532																																						ENST00000374928.3																			0				kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						c.(289-291)cCt>cAt		Kruppel-like factor 8							73.0	60.0	65.0					X																	56291821		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56291821C>A	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.290C>A	X.37:g.56291821C>A	ENSP00000417303:p.Pro97His					KLF8_ENST00000468660.1_Missense_Mutation_p.P97H	p.P97H	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN			4	776	+			97					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.290C>A	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115250	0.56505	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T;T	0.28895	1.59;1.59	4.68	3.8	0.43715	.	0.238600	0.37348	N	0.002140	T	0.48502	0.1503	M	0.63428	1.95	0.34068	D	0.658062	D;D;B	0.89917	1.0;1.0;0.005	D;D;B	0.72075	0.976;0.976;0.008	T	0.62110	-0.6923	10	0.59425	D	0.04	.	9.7582	0.40515	0.3715:0.6285:0.0:0.0	.	97;97;97	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	H	97	ENSP00000364063:P97H;ENSP00000417303:P97H	ENSP00000431911:P97H	P	+	2	0	KLF8	56308546	0.966000	0.33281	1.000000	0.80357	0.981000	0.71138	2.227000	0.42972	1.040000	0.40099	0.594000	0.82650	CCT		0.532	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		4	32	1	0	0.150653	1	0.152692	4	32				
ZNF341	84905	broad.mit.edu	37	20	32379026	32379026	+	Silent	SNP	C	C	T	rs199511736		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32379026C>T	ENST00000375200.1	+	15	2633	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.C749C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	756					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCGCAGTTGCGGCAGTGGTG	0.682																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(2266-2268)tgC>tgT		zinc finger protein 341		C		2,4362		0,2,2180	15.0	18.0	17.0		2247	0.1	0.1	20		17	9,8519		0,9,4255	no	coding-synonymous	ZNF341	NM_032819.3		0,11,6435	TT,TC,CC		0.1055,0.0458,0.0853		749/848	32379026	11,12881	2182	4264	6446	SO:0001819	synonymous_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379026C>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2268C>T	20.37:g.32379026C>T						RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.C749C|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA	p.C756C			Q9BYN7	ZN341_HUMAN			15	2633	+			756					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37	c.2268C>T																																																																																					0.682	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				9	16	0	0	0	1	0	9	16				
XG	7499	broad.mit.edu	37	X	2729415	2729415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729415G>A	ENST00000381174.5	+	9	673	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	snoU13_ENST00000516039.1_RNA|XG_ENST00000419513.2_Missense_Mutation_p.V165M|XG_ENST00000426774.1_Missense_Mutation_p.V151M			P55808	XG_HUMAN	Xg blood group	150						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATCGTATCCGTGGTGGTGGT	0.453																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(451-453)Gtg>Atg		Xg blood group							67.0	60.0	62.0					X																	2729415		2203	4298	6501	SO:0001583	missense	7499					integral to membrane|plasma membrane		g.chrX:2729415G>A	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.448G>A	X.37:g.2729415G>A	ENSP00000370566:p.Val150Met					XG_ENST00000381174.5_Missense_Mutation_p.V150M|XG_ENST00000419513.2_Missense_Mutation_p.V165M	p.V151M	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			9	674	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	150					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	c.451G>A	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085764	0.20390	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	3.6	2.69	0.31865	.	0.447229	0.19017	U	0.124909	T	0.35624	0.0938	L	0.43152	1.355	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.62089	0.898;0.836	T	0.08269	-1.0730	10	0.72032	D	0.01	.	8.5306	0.33333	0.0:0.2341:0.7659:0.0	.	150;165	P55808;P55808-3	XG_HUMAN;.	M	150;165;151;128;12	ENSP00000370566:V150M;ENSP00000411004:V165M;ENSP00000398503:V151M;ENSP00000430005:V128M	ENSP00000370566:V150M	V	+	1	0	XG	2739415	0.894000	0.30519	0.001000	0.08648	0.195000	0.23768	2.499000	0.45372	0.493000	0.27837	0.384000	0.25694	GTG		0.453	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		4	22	0	0	0	1	0	4	22				
CCDC40	55036	broad.mit.edu	37	17	78022390	78022390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78022390C>A	ENST00000397545.4	+	5	712	c.685C>A	c.(685-687)Cca>Aca	p.P229T	CCDC40_ENST00000269318.5_Missense_Mutation_p.P229T|CCDC40_ENST00000374876.4_Missense_Mutation_p.P229T|CCDC40_ENST00000374877.3_Missense_Mutation_p.P229T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	229					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGATCCCCCCAGGGGTGCC	0.617																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(685-687)Cca>Aca		coiled-coil domain containing 40							30.0	39.0	36.0					17																	78022390		1940	4143	6083	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78022390C>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.685C>A	17.37:g.78022390C>A	ENSP00000380679:p.Pro229Thr					CCDC40_ENST00000374876.4_Missense_Mutation_p.P229T|CCDC40_ENST00000374877.3_Missense_Mutation_p.P229T|CCDC40_ENST00000269318.5_Missense_Mutation_p.P229T	p.P229T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		5	712	+	all_neural(118;0.167)		229					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.685C>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598893	0.13939	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.52057	0.69;0.68;0.69;0.74	3.73	-2.27	0.06846	.	.	.	.	.	T	0.42314	0.1197	L	0.56769	1.78	0.09310	N	1	B;B;B	0.30634	0.288;0.041;0.02	B;B;B	0.33121	0.158;0.015;0.034	T	0.34304	-0.9834	9	0.45353	T	0.12	4.7049	9.9624	0.41704	0.0:0.5719:0.0:0.4281	.	229;229;12	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	T	229	ENSP00000364011:P229T;ENSP00000269318:P229T;ENSP00000364010:P229T;ENSP00000380679:P229T	ENSP00000269318:P229T	P	+	1	0	CCDC40	75636985	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.368000	0.07543	-0.947000	0.03673	-1.094000	0.02160	CCA		0.617	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		5	18	1	0	1.23904e-05	1	1.39987e-05	5	18				
ATR	545	broad.mit.edu	37	3	142281097	142281097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142281097G>A	ENST00000350721.4	-	4	1268	c.1147C>T	c.(1147-1149)Ctt>Ttt	p.L383F	ATR_ENST00000383101.3_Missense_Mutation_p.L383F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	383					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAATTCCAAGCACATCCAAA	0.333								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1147-1149)Ctt>Ttt	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							72.0	73.0	73.0					3																	142281097		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281097G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1147C>T	3.37:g.142281097G>A	ENSP00000343741:p.Leu383Phe					ATR_ENST00000383101.3_Missense_Mutation_p.L383F	p.L383F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1268	-			383					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1147C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122358	0.56613	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.70045	-0.45;-0.45	5.67	4.79	0.61399	Armadillo-type fold (1);	0.152029	0.44902	D	0.000403	T	0.58694	0.2140	L	0.29908	0.895	0.23036	N	0.998394	P	0.50272	0.933	B	0.44108	0.441	T	0.56774	-0.7923	10	0.66056	D	0.02	-15.0035	14.3417	0.66630	0.0:0.0:0.73:0.27	.	383	Q13535	ATR_HUMAN	F	383;383;64	ENSP00000343741:L383F;ENSP00000372581:L383F	ENSP00000343741:L383F	L	-	1	0	ATR	143763787	0.847000	0.29606	0.999000	0.59377	0.982000	0.71751	1.067000	0.30616	1.371000	0.46172	0.591000	0.81541	CTT		0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		18	29	0	0	0	1	0	18	29				
CFAP46	54777	broad.mit.edu	37	10	134743096	134743096	+	Missense_Mutation	SNP	C	C	T	rs139176367	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134743096C>T	ENST00000368585.3	-	9	1417	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AACCACGGACCGAAGCCCTGG	0.532																																						ENST00000368585.3																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1078-1080)cGg>cAg		tetratricopeptide repeat domain 40							111.0	98.0	102.0					10																	134743096		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134743096C>T																												ENST00000368585.3:c.1079G>A	10.37:g.134743096C>T	ENSP00000357574:p.Arg360Gln					TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron	p.R360Q			Q8IYW2	CJ092_HUMAN			9	1417	-			0						Missense_Mutation	SNP	ENST00000368585.3	37	c.1079G>A		.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105644	0.06924	.	.	ENSG00000171811	ENST00000368585	T	0.53206	0.63	1.98	-3.96	0.04106	.	5.117640	0.01224	N	0.008161	T	0.25938	0.0632	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.06499	-1.0823	10	0.29301	T	0.29	.	0.7264	0.00949	0.3075:0.3505:0.1543:0.1877	.	360	Q5SR76-1	.	Q	360	ENSP00000357574:R360Q	ENSP00000357574:R360Q	R	-	2	0	C10orf93	134593086	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.664000	0.01966	-2.603000	0.00450	-0.428000	0.05917	CGG		0.532	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			22	34	0	0	0	1	0	22	34				
PHLPP2	23035	broad.mit.edu	37	16	71710385	71710385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71710385C>T	ENST00000568954.1	-	9	1814	c.1436G>A	c.(1435-1437)gGc>gAc	p.G479D	PHLPP2_ENST00000567016.1_Missense_Mutation_p.G514D|PHLPP2_ENST00000356272.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000360429.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000393524.2_Missense_Mutation_p.G479D			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	479					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAGGGAAAAGCCACTGAGTGT	0.502																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1435-1437)gGc>gAc		PH domain and leucine rich repeat protein phosphatase 2							120.0	111.0	114.0					16																	71710385		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71710385C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1436G>A	16.37:g.71710385C>T	ENSP00000457991:p.Gly479Asp					PHLPP2_ENST00000567016.1_Missense_Mutation_p.G514D|PHLPP2_ENST00000360429.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000356272.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000568954.1_Missense_Mutation_p.G479D	p.G479D			Q6ZVD8	PHLP2_HUMAN			8	2169	-			479					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.1436G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582558	0.86748	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.35973	1.85;1.28;1.85	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.63734	-0.6570	10	0.35671	T	0.21	-14.4474	18.3477	0.90327	0.0:1.0:0.0:0.0	.	479;479	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	D	286;479;479;479	ENSP00000353610:G479D;ENSP00000348611:G479D;ENSP00000377159:G479D	ENSP00000299971:G286D	G	-	2	0	PHLPP2	70267886	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	7.445000	0.80570	2.568000	0.86640	0.655000	0.94253	GGC		0.502	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		14	26	0	0	0	1	0	14	26				
SLC22A8	9376	broad.mit.edu	37	11	62782137	62782137	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62782137G>T	ENST00000336232.2	-	2	429	c.294C>A	c.(292-294)ggC>ggA	p.G98G	SLC22A8_ENST00000545207.1_Silent_p.G7G|SLC22A8_ENST00000311438.8_Silent_p.G98G|SLC22A8_ENST00000430500.2_Silent_p.G98G|SLC22A8_ENST00000535878.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	98					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGTAGACCCAGCCATCCAGGC	0.597																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(292-294)ggC>ggA		solute carrier family 22 (organic anion transporter), member 8							146.0	145.0	146.0					11																	62782137		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62782137G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.294C>A	11.37:g.62782137G>T						SLC22A8_ENST00000545207.1_Silent_p.G7G|SLC22A8_ENST00000430500.2_Silent_p.G98G|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.G98G	p.G98G	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			2	429	-			98					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.294C>A	CCDS8042.1																																																																																				0.597	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		6	136	1	0	0.0293803	1	0.0301098	6	136				
SUGT1	10910	broad.mit.edu	37	13	53227196	53227196	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53227196C>A	ENST00000343788.6	+	2	136	c.54C>A	c.(52-54)ttC>ttA	p.F18L	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000310528.8_Missense_Mutation_p.F18L|SUGT1_ENST00000483074.1_3'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	18					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TCCAGAGCTTCTCGGATGCCC	0.522											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310528.7																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(52-54)ttC>ttA		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							122.0	132.0	129.0					13																	53227196		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53227196C>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.54C>A	13.37:g.53227196C>A	ENSP00000367208:p.Phe18Leu		OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	SUGT1_ENST00000343788.6_Missense_Mutation_p.F18L|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR	p.F18L	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	2	109	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	18					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.54C>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774679	0.49786	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.21191	2.02;2.02	4.02	3.13	0.36017	.	0.129073	0.52532	N	0.000072	T	0.14874	0.0359	L	0.32530	0.975	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.14023	0.01;0.003	T	0.06041	-1.0849	10	0.45353	T	0.12	-1.276	8.7128	0.34393	0.0:0.7426:0.2574:0.0	.	18;18	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	L	18	ENSP00000367208:F18L;ENSP00000308067:F18L	ENSP00000308067:F18L	F	+	3	2	SUGT1	52125197	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.497000	0.35649	2.052000	0.61016	0.467000	0.42956	TTC		0.522	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			32	68	1	0	6.97489e-18	1	9.07097e-18	32	68				
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(178-180)Gcg>Acg		immunoglobulin superfamily containing leucine-rich repeat 2							72.0	60.0	64.0					15																	74425273		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425273G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.178G>A	15.37:g.74425273G>A	ENSP00000355402:p.Ala60Thr					ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T	p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	947	+			60					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.178G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714877	0.68844	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44620	-0.9316	10	0.23891	T	0.37	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	60	Q6UXK2	ISLR2_HUMAN	T	60	ENSP00000403244:A60T;ENSP00000355402:A60T;ENSP00000411443:A60T;ENSP00000411834:A60T;ENSP00000408872:A60T	ENSP00000355402:A60T	A	+	1	0	ISLR2	72212326	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	9.661000	0.98601	2.151000	0.67156	0.407000	0.27541	GCG		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		7	64	0	0	0	1	0	7	64				
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T8414M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			2	Substitution - Missense(2)	p.T8414M(2)	large_intestine(2)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25240-25242)aCg>aTg		spectrin repeat containing, nuclear envelope 1							173.0	149.0	157.0					6																	152462343		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152462343G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25241C>T	6.37:g.152462343G>A	ENSP00000356224:p.Thr8414Met	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M	p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	139	25842	-		Ovarian(120;0.0955)	8414					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25241C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654955	0.47467	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56611	0.54;4.6;1.45;0.53;0.45;0.53;0.66;2.56;1.61;4.6	5.84	3.13	0.36017	.	0.113562	0.39759	N	0.001275	T	0.57504	0.2058	M	0.70595	2.14	0.40467	D	0.980307	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.918	P;P;D;D;B	0.68621	0.855;0.855;0.959;0.912;0.39	T	0.60193	-0.7311	10	0.48119	T	0.1	.	11.5613	0.50778	0.1857:0.0:0.8143:0.0	.	8414;8414;8366;8366;616	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8414;569;1060;8366;8414;8366;8026;2938;599;594;1359;592	ENSP00000356224:T8414M;ENSP00000441052:T569M;ENSP00000356226:T1060M;ENSP00000396024:T8366M;ENSP00000265368:T8414M;ENSP00000390975:T8366M;ENSP00000341887:T8026M;ENSP00000349276:T2938M;ENSP00000356220:T1359M;ENSP00000346701:T592M	ENSP00000265368:T8414M	T	-	2	0	SYNE1	152504036	1.000000	0.71417	0.886000	0.34754	0.287000	0.27160	3.615000	0.54167	0.391000	0.25143	-1.008000	0.02478	ACG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		46	69	0	0	0	1	0	46	69				
NLRP7	199713	broad.mit.edu	37	19	55445085	55445085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55445085C>T	ENST00000590030.1	-	7	2534	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NLRP7_ENST00000588756.1_Missense_Mutation_p.E832K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E804K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E860K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E804K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E832K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E832K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	832							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAACTGGCTTCTGTAAGACGA	0.473																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2578-2580)Gaa>Aaa		NLR family, pyrin domain containing 7							95.0	90.0	92.0					19																	55445085		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55445085C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2494G>A	19.37:g.55445085C>T	ENSP00000465520:p.Glu832Lys					NLRP7_ENST00000448121.2_Missense_Mutation_p.E804K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E832K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E832K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E832K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E832K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E804K	p.E860K			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	2980	-			832					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2578G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503506	0.26949	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.54479	0.57;0.57;2.09	2.25	-0.151	0.13411	.	.	.	.	.	T	0.55529	0.1926	M	0.62016	1.91	0.09310	N	1	P;P;B;P	0.41498	0.752;0.491;0.34;0.743	P;B;B;P	0.49999	0.493;0.394;0.341;0.628	T	0.48068	-0.9067	9	0.33940	T	0.23	.	7.8927	0.29688	0.0:0.4909:0.5091:0.0	.	860;832;832;804	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	K	832;804;832;860;599	ENSP00000409137:E804K;ENSP00000339491:E832K;ENSP00000414273:E860K	ENSP00000329568:E832K	E	-	1	0	NLRP7	60136897	0.000000	0.05858	0.132000	0.22025	0.438000	0.31896	0.128000	0.15810	0.055000	0.16094	0.555000	0.69702	GAA		0.473	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		22	43	0	0	0	1	0	22	43				
UBL4A	8266	broad.mit.edu	37	X	153714147	153714147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	109					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCATCTGCCGCACTGAAGTG	0.622																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	ENST00000369660.4																			1	Substitution - Missense(1)	p.A109V(1)	endometrium(1)	endometrium(5)|lung(1)|urinary_tract(1)	7						c.(325-327)gCg>gTg		ubiquitin-like 4A							86.0	91.0	89.0					X																	153714147		2203	4300	6503	SO:0001583	missense	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153714147G>A	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.326C>T	X.37:g.153714147G>A	ENSP00000358674:p.Ala109Val					UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V	p.A109V	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN			3	411	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		109					Q5HY80	Missense_Mutation	SNP	ENST00000369660.4	37	c.326C>T	CCDS14754.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383184	0.42207	.	.	ENSG00000102178	ENST00000369660;ENST00000369653	T;T	0.46063	0.94;0.88	4.76	3.61	0.41365	.	0.379891	0.29046	N	0.013318	T	0.27419	0.0673	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	10	0.40728	T	0.16	-6.0642	4.5941	0.12322	0.1559:0.204:0.6401:0.0	.	109	P11441	UBL4A_HUMAN	V	109	ENSP00000358674:A109V;ENSP00000358667:A109V	ENSP00000358667:A109V	A	-	2	0	UBL4A	153367341	0.023000	0.18921	0.003000	0.11579	0.976000	0.68499	1.836000	0.39191	0.839000	0.34971	0.529000	0.55759	GCG		0.622	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		37	59	0	0	0	1	0	37	59				
ZNF704	619279	broad.mit.edu	37	8	81733613	81733613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81733613C>T	ENST00000327835.3	-	2	448	c.217G>A	c.(217-219)Gca>Aca	p.A73T		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	73							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCTTACCTTGCTGGAGGAACA	0.448																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(217-219)Gca>Aca		zinc finger protein 704							234.0	215.0	222.0					8																	81733613		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81733613C>T	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.217G>A	8.37:g.81733613C>T	ENSP00000331462:p.Ala73Thr						p.A73T	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	448	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		73					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.217G>A	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493480	0.84962	.	.	ENSG00000164684	ENST00000327835;ENST00000519936	T;T	0.29397	1.57;1.57	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000002	T	0.29491	0.0735	L	0.51422	1.61	0.58432	D	0.999996	P	0.37330	0.59	B	0.34652	0.187	T	0.03993	-1.0986	10	0.14252	T	0.57	.	18.4528	0.90710	0.0:1.0:0.0:0.0	.	73	Q6ZNC4	ZN704_HUMAN	T	73	ENSP00000331462:A73T;ENSP00000427715:A73T	ENSP00000331462:A73T	A	-	1	0	ZNF704	81896168	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.038000	0.64177	2.793000	0.96121	0.563000	0.77884	GCA		0.448	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		94	144	0	0	0	1	0	94	144				
GAN	8139	broad.mit.edu	37	16	81388172	81388172	+	Missense_Mutation	SNP	G	G	A	rs369703737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81388172G>A	ENST00000568107.2	+	3	607	c.445G>A	c.(445-447)Gtt>Att	p.V149I		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	149	BACK.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTCCATCACGTTCATTACCT	0.458																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(445-447)Gtt>Att		gigaxonin		G	ILE/VAL	1,4403	2.1+/-5.4	0,1,2201	212.0	188.0	196.0		445	6.0	1.0	16		196	1,8599	1.2+/-3.3	0,1,4299	no	missense	GAN	NM_022041.3	29	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	149/598	81388172	2,13002	2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81388172G>A	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.445G>A	16.37:g.81388172G>A	ENSP00000476795:p.Val149Ile						p.V149I	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			3	607	+		Colorectal(91;0.153)	149			BACK.			Missense_Mutation	SNP	ENST00000568107.2	37	c.445G>A	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465208	0.63513	2.27E-4	1.16E-4	ENSG00000127688	ENST00000248272	T	0.67698	-0.28	5.96	5.96	0.96718	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.58101	1.795	0.80722	D	1	P	0.39250	0.665	B	0.26864	0.074	T	0.68515	-0.5388	10	0.87932	D	0	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	149	Q9H2C0	GAN_HUMAN	I	149	ENSP00000248272:V149I	ENSP00000248272:V149I	V	+	1	0	GAN	79945673	1.000000	0.71417	0.989000	0.46669	0.680000	0.39746	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	GTT		0.458	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			34	124	0	0	0	1	0	34	124				
LIMK2	3985	broad.mit.edu	37	22	31654373	31654373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31654373C>T	ENST00000331728.4	+	3	327	c.213C>T	c.(211-213)ttC>ttT	p.F71F	LIMK2_ENST00000340552.4_Silent_p.F50F|LIMK2_ENST00000333611.4_Silent_p.F50F|LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	71					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTGGGGAGTTCTGTCATGGGT	0.517																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(211-213)ttC>ttT		LIM domain kinase 2							152.0	139.0	144.0					22																	31654373		2203	4300	6503	SO:0001819	synonymous_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31654373C>T	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.213C>T	22.37:g.31654373C>T						LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000340552.4_Silent_p.F50F|LIMK2_ENST00000333611.4_Silent_p.F50F|LIMK2_ENST00000444929.2_Intron	p.F71F	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			3	327	+			71					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	c.213C>T	CCDS13891.1																																																																																				0.517	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		30	35	0	0	0	1	0	30	35				
HPS1	3257	broad.mit.edu	37	10	100202908	100202908	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100202908G>A	ENST00000325103.6	-	3	323	c.90C>T	c.(88-90)ttC>ttT	p.F30F	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Silent_p.F30F|HPS1_ENST00000361490.4_Silent_p.F30F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	30					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGACTGCCCGAACTTCAGCC	0.557									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(88-90)ttC>ttT		Hermansky-Pudlak syndrome 1							160.0	142.0	148.0					10																	100202908		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100202908G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.90C>T	10.37:g.100202908G>A						HPS1_ENST00000361490.4_Silent_p.F30F|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Silent_p.F30F	p.F30F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	3	323	-		Colorectal(252;0.234)	30					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.90C>T	CCDS7475.1																																																																																				0.557	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		32	59	0	0	0	1	0	32	59				
KCNN2	3781	broad.mit.edu	37	5	113831667	113831667	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:113831667C>A	ENST00000512097.3	+	9	2546	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	KCNN2_ENST00000503706.1_Missense_Mutation_p.L162M|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.L510M			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	510					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GATTGTTACCCTGGAAACAAA	0.448																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1528-1530)Ctg>Atg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							125.0	129.0	127.0					5																	113831667		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831667C>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1528C>A	5.37:g.113831667C>A	ENSP00000427120:p.Leu510Met					KCNN2_ENST00000503706.1_Missense_Mutation_p.L162M|KCNN2_ENST00000264773.3_Missense_Mutation_p.L510M|RP11-492A10.1_ENST00000514115.1_RNA	p.L510M			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	9	2546	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	510					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1528C>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993877	0.54041	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.99329	-5.75;-4.08	5.28	2.55	0.30701	.	0.207931	0.42294	D	0.000728	D	0.98604	0.9533	M	0.81497	2.545	0.54753	D	0.999988	P	0.51933	0.949	P	0.51016	0.656	D	0.96711	0.9525	10	0.41790	T	0.15	.	5.7959	0.18387	0.0:0.6233:0.1487:0.228	.	510	Q9H2S1	KCNN2_HUMAN	M	510;162	ENSP00000264773:L510M;ENSP00000421439:L162M	ENSP00000264773:L510M	L	+	1	2	KCNN2	113859566	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.962000	0.40442	0.240000	0.21263	0.643000	0.83706	CTG		0.448	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		9	101	1	0	7.48243e-07	1	8.70085e-07	9	101				
SDR9C7	121214	broad.mit.edu	37	12	57323240	57323240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57323240G>A	ENST00000293502.1	-	3	801	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	220					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(658-660)Cga>Tga		short chain dehydrogenase/reductase family 9C, member 7							116.0	102.0	107.0					12																	57323240		2203	4300	6503	SO:0001587	stop_gained	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57323240G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.658C>T	12.37:g.57323240G>A	ENSP00000293502:p.Arg220*						p.R220*	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			3	801	-			220					B3KVB4	Nonsense_Mutation	SNP	ENST00000293502.1	37	c.658C>T	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232819	0.95207	.	.	ENSG00000170426	ENST00000293502	.	.	.	5.45	3.51	0.40186	.	0.624103	0.14118	N	0.340258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	8.5096	0.33208	0.0:0.2657:0.4449:0.2895	.	.	.	.	X	220	.	ENSP00000293502:R220X	R	-	1	2	SDR9C7	55609507	0.000000	0.05858	0.165000	0.22776	0.353000	0.29299	-0.435000	0.06931	0.706000	0.31912	0.650000	0.86243	CGA		0.562	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		6	65	0	0	0	1	0	6	65				
ZFYVE26	23503	broad.mit.edu	37	14	68252589	68252589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68252589G>A	ENST00000347230.4	-	18	3428	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1097V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1097					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCTCTAGTGCCTCTCTCAG	0.542																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(3289-3291)gCa>gTa		zinc finger, FYVE domain containing 26							258.0	266.0	263.0					14																	68252589		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68252589G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3290C>T	14.37:g.68252589G>A	ENSP00000251119:p.Ala1097Val					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1097V	p.A1097V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	18	3428	-			1097					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.3290C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325819	0.41197	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.33438	1.59;1.41	5.38	4.49	0.54785	.	0.056742	0.64402	D	0.000002	T	0.25901	0.0631	L	0.56769	1.78	0.37199	D	0.904307	B;B	0.21309	0.054;0.018	B;B	0.19666	0.026;0.019	T	0.13202	-1.0518	10	0.11794	T	0.64	-5.2761	8.3199	0.32124	0.1788:0.0:0.8212:0.0	.	1097;1097	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	1097;1076;1097	ENSP00000251119:A1097V;ENSP00000450603:A1097V	ENSP00000251119:A1097V	A	-	2	0	ZFYVE26	67322342	0.964000	0.33143	0.679000	0.29978	0.995000	0.86356	2.752000	0.47516	1.269000	0.44280	0.655000	0.94253	GCA		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		152	257	0	0	0	1	0	152	257				
DNASE1L3	1776	broad.mit.edu	37	3	58179141	58179141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58179141C>T	ENST00000394549.2	-	7	1046	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V214I|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V244I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V244I	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	244					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ACAGAACTGACGATTTCTTGT	0.438																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(730-732)Gtc>Atc		deoxyribonuclease I-like 3							106.0	96.0	100.0					3																	58179141		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58179141C>T	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.730G>A	3.37:g.58179141C>T	ENSP00000378053:p.Val244Ile					DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V214I|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V244I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V244I	p.V244I			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	9	1311	-			244					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.730G>A	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600853	0.28534	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.7	-2.67	0.06059	Endonuclease/exonuclease/phosphatase (2);	1.155000	0.06261	N	0.693878	T	0.61664	0.2365	N	0.12961	0.28	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.10450	0.005;0.005;0.003	T	0.44329	-0.9335	10	0.19590	T	0.45	.	7.1033	0.25351	0.0:0.1837:0.2388:0.5775	.	214;244;244	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	I	214;244;244;244;244	ENSP00000419052:V214I;ENSP00000316193:V244I;ENSP00000417047:V244I;ENSP00000378053:V244I	ENSP00000316193:V244I	V	-	1	0	DNASE1L3	58154181	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.010000	0.03656	-0.161000	0.10983	-0.140000	0.14226	GTC		0.438	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		23	33	0	0	0	1	0	23	33				
CSNK2B	1460	broad.mit.edu	37	6	31634614	31634614	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31634614C>T	ENST00000375882.2	+	2	162	c.6C>T	c.(4-6)agC>agT	p.S2S	GPANK1_ENST00000375893.2_5'Flank|CSNK2B_ENST00000375865.2_Silent_p.S2S|CSNK2B-LY6G5B-1181_ENST00000375880.2_Silent_p.S2S|GPANK1_ENST00000375896.4_5'Flank|GPANK1_ENST00000375900.4_5'Flank|GPANK1_ENST00000375906.1_5'Flank|CSNK2B_ENST00000375885.4_Silent_p.S21S|CSNK2B_ENST00000375866.2_Silent_p.S2S|GPANK1_ENST00000375895.2_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	2					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						TGAAGATGAGCAGCTCAGAGG	0.512																																						ENST00000375880.2																			0											c.(4-6)agC>agT									251.0	212.0	225.0					6																	31634614		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:31634614C>T	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.6C>T	6.37:g.31634614C>T						CSNK2B_ENST00000375866.2_Silent_p.S2S|CSNK2B_ENST00000375885.4_Silent_p.S21S|CSNK2B_ENST00000375865.2_Silent_p.S2S|CSNK2B_ENST00000375882.2_Silent_p.S2S	p.S2S							2	124	+								B0UXA9|P07312|P13862|Q4VX47	Silent	SNP	ENST00000375882.2	37	c.6C>T	CCDS4712.1																																																																																				0.512	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		4	29	0	0	0	1	0	4	29				
SKIL	6498	broad.mit.edu	37	3	170102422	170102422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170102422C>T	ENST00000458537.3	+	3	2007	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	SKIL_ENST00000413427.2_Intron|SKIL_ENST00000259119.4_Missense_Mutation_p.S433F|SKIL_ENST00000426052.2_Missense_Mutation_p.S413F	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	433					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCAAGTAAGTCCATATCAAGA	0.403																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(1297-1299)tCc>tTc		SKI-like oncogene							150.0	143.0	145.0					3																	170102422		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170102422C>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1298C>T	3.37:g.170102422C>T	ENSP00000415243:p.Ser433Phe					SKIL_ENST00000413427.2_Intron|SKIL_ENST00000426052.2_Missense_Mutation_p.S413F|SKIL_ENST00000259119.4_Missense_Mutation_p.S433F	p.S433F	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	2007	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		433					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.1298C>T	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858602	0.17178	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000458537	D;D;D	0.91407	-2.84;-2.84;-2.84	5.84	5.84	0.93424	.	1.075670	0.06955	N	0.815279	D	0.88588	0.6477	L	0.47716	1.5	0.09310	N	1	P	0.37955	0.612	B	0.34590	0.186	T	0.79838	-0.1634	10	0.51188	T	0.08	-0.2767	13.6986	0.62595	0.0:0.9297:0.0:0.0703	.	433	P12757	SKIL_HUMAN	F	433;413;433	ENSP00000259119:S433F;ENSP00000406520:S413F;ENSP00000415243:S433F	ENSP00000259119:S433F	S	+	2	0	SKIL	171585116	0.138000	0.22547	0.010000	0.14722	0.880000	0.50808	1.962000	0.40442	2.937000	0.99478	0.650000	0.86243	TCC		0.403	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		8	95	0	0	0	1	0	8	95				
EDC4	23644	broad.mit.edu	37	16	67914878	67914878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67914878G>A	ENST00000358933.5	+	18	2755	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	839					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GAGACCTGCAGCACCCTGGCA	0.582																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2515-2517)aGc>aAc		enhancer of mRNA decapping 4							56.0	58.0	58.0					16																	67914878		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914878G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2516G>A	16.37:g.67914878G>A	ENSP00000351811:p.Ser839Asn						p.S839N	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2755	+		Ovarian(137;0.0563)	839					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2516G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	4.567	0.105307	0.08731	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.61	3.27	0.37495	.	0.163209	0.64402	D	0.000003	T	0.11367	0.0277	N	0.02539	-0.55	0.27743	N	0.944429	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	9	0.09843	T	0.71	-6.1692	4.9514	0.14015	0.2058:0.2047:0.5895:0.0	.	839	Q6P2E9	EDC4_HUMAN	N	839	.	ENSP00000351811:S839N	S	+	2	0	EDC4	66472379	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.764000	0.55264	1.340000	0.45581	0.591000	0.81541	AGC		0.582	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		32	52	0	0	0	1	0	32	52				
FMO1	2326	broad.mit.edu	37	1	171251226	171251226	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251226T>G	ENST00000354841.4	+	6	1068	c.937T>G	c.(937-939)Ttt>Gtt	p.F313V	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.F313V|FMO1_ENST00000402921.2_Missense_Mutation_p.F250V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	313					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CTCTGTCATATTTAACAATAC	0.408																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(937-939)Ttt>Gtt		flavin containing monooxygenase 1							121.0	113.0	116.0					1																	171251226		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251226T>G	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.937T>G	1.37:g.171251226T>G	ENSP00000346901:p.Phe313Val					FMO1_ENST00000402921.2_Missense_Mutation_p.F250V|FMO1_ENST00000367750.3_Missense_Mutation_p.F313V|FMO1_ENST00000469112.1_3'UTR	p.F313V			Q01740	FMO1_HUMAN			6	1068	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		313					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.937T>G	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045512	0.55110	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.62364	0.03;0.03;0.03	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	M	0.91920	3.255	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.999	D	0.84793	0.0780	10	0.62326	D	0.03	-0.5463	15.5549	0.76184	0.0:0.0:0.0:1.0	.	250;313;313	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	V	313;250;313	ENSP00000356724:F313V;ENSP00000385543:F250V;ENSP00000346901:F313V	ENSP00000346901:F313V	F	+	1	0	FMO1	169517850	1.000000	0.71417	0.053000	0.19242	0.072000	0.16883	7.692000	0.84203	2.313000	0.78055	0.455000	0.32223	TTT		0.408	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		17	63	0	0	0	1	0	17	63				
DAGLB	221955	broad.mit.edu	37	7	6452454	6452454	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6452454G>A	ENST00000297056.6	-	13	1726	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	DAGLB_ENST00000428902.2_Nonsense_Mutation_p.Q379*|DAGLB_ENST00000436575.1_Silent_p.C478C|DAGLB_ENST00000425398.2_Silent_p.C390C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	519					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGGGTTTATTGCAGTGCGCGA	0.572																																						ENST00000428902.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1135-1137)Caa>Taa		diacylglycerol lipase, beta							64.0	53.0	56.0					7																	6452454		2200	4295	6495	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6452454G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1557C>T	7.37:g.6452454G>A						DAGLB_ENST00000436575.1_Silent_p.C478C|DAGLB_ENST00000297056.6_Silent_p.C519C|DAGLB_ENST00000425398.2_Silent_p.C390C	p.Q379*			Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	12	1433	-		Ovarian(82;0.232)	0					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Nonsense_Mutation	SNP	ENST00000297056.6	37	c.1135C>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	.	19.66	3.869251	0.72065	.	.	ENSG00000164535	ENST00000428902	.	.	.	5.52	-4.15	0.03881	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-11.661	14.594	0.68392	0.7012:0.0:0.2988:0.0	.	.	.	.	X	379	.	ENSP00000416046:Q379X	Q	-	1	0	DAGLB	6418979	0.992000	0.36948	0.795000	0.32087	0.015000	0.08874	0.312000	0.19397	-0.893000	0.03930	-0.345000	0.07892	CAA		0.572	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		3	6	0	0	0	1	0	3	6				
PCDHB12	56124	broad.mit.edu	37	5	140589847	140589847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140589847C>T	ENST00000239450.2	+	1	1557	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	PCDHB12_ENST00000541609.1_Silent_p.Y119Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTTCCTACGCCCTGTTCG	0.612																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1366-1368)taC>taT									104.0	100.0	101.0					5																	140589847		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589847C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1368C>T	5.37:g.140589847C>T						PCDHB12_ENST00000541609.1_Silent_p.Y119Y	p.Y456Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1557	+			456			Cadherin 5.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1368C>T	CCDS4254.1																																																																																				0.612	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		32	34	0	0	0	1	0	32	34				
SLC25A23	79085	broad.mit.edu	37	19	6442163	6442163	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6442163G>A	ENST00000301454.4	-	10	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC25A23_ENST00000414491.2_Silent_p.I171I|SLC25A23_ENST00000601760.1_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	410					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.I410I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGCCACCCTCGATGGAGGCTG	0.667																																						ENST00000301454.4																			1	Substitution - coding silent(1)	p.I410I(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(1228-1230)atC>atT		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							8.0	9.0	8.0					19																	6442163		2187	4267	6454	SO:0001819	synonymous_variant	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6442163G>A	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1230C>T	19.37:g.6442163G>A						SLC25A23_ENST00000414491.2_Silent_p.I171I|SLC25A23_ENST00000601760.1_Intron	p.I410I	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			10	1336	-			410					B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	c.1230C>T	CCDS32882.1																																																																																				0.667	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		5	1	0	0	0	1	0	5	1				
CDK20	23552	broad.mit.edu	37	9	90586220	90586220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90586220C>T	ENST00000325303.8	-	3	525	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	CDK20_ENST00000375871.4_Missense_Mutation_p.G74S|CDK20_ENST00000375883.3_Missense_Mutation_p.G74S|CDK20_ENST00000336654.5_Missense_Mutation_p.G87S|CDK20_ENST00000605159.1_Missense_Mutation_p.G74S	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						AAGCCTCCACCGTGTGGGAAC	0.592																																						ENST00000375883.3																			0				skin(1)	1						c.(220-222)Ggt>Agt		cyclin-dependent kinase 20							96.0	67.0	77.0					9																	90586220		2203	4300	6503	SO:0001583	missense	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90586220C>T	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.220G>A	9.37:g.90586220C>T	ENSP00000322343:p.Gly74Ser					CDK20_ENST00000375871.4_Missense_Mutation_p.G74S|CDK20_ENST00000336654.5_Missense_Mutation_p.G87S|CDK20_ENST00000325303.8_Missense_Mutation_p.G74S|CDK20_ENST00000605159.1_Missense_Mutation_p.G74S	p.G74S	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN			3	526	-			74			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	c.220G>A	CCDS35060.1	.	.	.	.	.	.	.	.	.	.	.	12.62	1.993789	0.35131	.	.	ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000375871;ENST00000325303;ENST00000286878	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	3.66	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061473	0.64402	N	0.000005	T	0.55130	0.1901	N	0.25380	0.74	0.58432	D	0.99999	P;B;P;B	0.49307	0.846;0.355;0.922;0.429	B;B;P;B	0.52267	0.358;0.327;0.694;0.226	T	0.53258	-0.8464	10	0.48119	T	0.1	-10.9879	7.9073	0.29769	0.0:0.8769:0.0:0.1231	.	74;87;74;74	Q8IZL9-2;A2A390;E7EQ88;Q8IZL9	.;.;.;CDK20_HUMAN	S	74;87;74;74;74	ENSP00000365043:G74S;ENSP00000338975:G87S;ENSP00000365031:G74S;ENSP00000322343:G74S	ENSP00000286878:G74S	G	-	1	0	CDK20	89776040	0.977000	0.34250	0.298000	0.25002	0.406000	0.30931	3.007000	0.49536	0.841000	0.35020	-0.369000	0.07265	GGT		0.592	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		7	15	0	0	0	1	0	7	15				
RAB14	51552	broad.mit.edu	37	9	123952957	123952957	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123952957G>A	ENST00000373840.4	-	4	396	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	53					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CACTAACTTCGATTATTCTTG	0.418																																						ENST00000373840.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(157-159)atC>atT		RAB14, member RAS oncogene family							102.0	99.0	100.0					9																	123952957		2203	4300	6503	SO:0001819	synonymous_variant	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123952957G>A	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.159C>T	9.37:g.123952957G>A							p.I53I	NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN			4	396	-			53					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Silent	SNP	ENST00000373840.4	37	c.159C>T	CCDS6827.1																																																																																				0.418	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		17	32	0	0	0	1	0	17	32				
PPP6R2	9701	broad.mit.edu	37	22	50853068	50853068	+	Missense_Mutation	SNP	C	C	T	rs145732437		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50853068C>T	ENST00000216061.5	+	6	872	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	PPP6R2_ENST00000395741.3_Missense_Mutation_p.R168C|PPP6R2_ENST00000359139.3_Missense_Mutation_p.R168C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R168C			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	168						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCTGCTGCTGCGCCTGGTCAG	0.602																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(502-504)Cgc>Tgc		protein phosphatase 6, regulatory subunit 2		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	74.0	78.0		502,502,502,502	5.8	1.0	22	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense,missense	PPP6R2	NM_001242898.1,NM_001242899.1,NM_001242900.1,NM_014678.4	180,180,180,180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	168/960,168/934,168/928,168/933	50853068	4,13002	2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50853068C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.502C>T	22.37:g.50853068C>T	ENSP00000216061:p.Arg168Cys					PPP6R2_ENST00000216061.5_Missense_Mutation_p.R168C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R168C|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R168C	p.R168C	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			5	896	+			168					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.502C>T		.	.	.	.	.	.	.	.	.	.	C	28.4	4.919710	0.92249	2.27E-4	3.49E-4	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.8	5.8	0.92144	.	0.046228	0.85682	D	0.000000	T	0.59865	0.2225	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.993;0.999;0.996	T	0.62062	-0.6933	10	0.87932	D	0	-33.7254	18.8306	0.92137	0.0:1.0:0.0:0.0	.	168;168;168;168;168	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	C	168	ENSP00000352051:R168C;ENSP00000379090:R168C;ENSP00000379093:R168C;ENSP00000216061:R168C	ENSP00000216061:R168C	R	+	1	0	PPP6R2	49199934	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.772000	0.55325	2.747000	0.94245	0.462000	0.41574	CGC		0.602	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		15	25	0	0	0	1	0	15	25				
ZNF564	163050	broad.mit.edu	37	19	12638021	12638021	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638021T>A	ENST00000339282.7	-	4	1097	c.901A>T	c.(901-903)Att>Ttt	p.I301F	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTGTGCCTAATCATATGACTT	0.383																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(901-903)Att>Ttt		zinc finger protein 564							50.0	56.0	54.0					19																	12638021		2119	4258	6377	SO:0001583	missense	163050							g.chr19:12638021T>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.901A>T	19.37:g.12638021T>A	ENSP00000340004:p.Ile301Phe					ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.I301F	NM_144976.3	NP_659413.1					4	1097	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.901A>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085411	0.76642	.	.	ENSG00000249709	ENST00000339282	T	0.18502	2.21	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.31207	0.915	0.31286	N	0.689978	P	0.50156	0.932	P	0.58620	0.842	T	0.14587	-1.0467	9	0.87932	D	0	.	8.7876	0.34830	0.0:0.0:0.0:1.0	.	301	Q8TBZ8	ZN564_HUMAN	F	301	ENSP00000340004:I301F	ENSP00000340004:I301F	I	-	1	0	ZNF564	12499021	0.000000	0.05858	0.001000	0.08648	0.993000	0.82548	-0.948000	0.03897	1.061000	0.40601	0.523000	0.50628	ATT		0.383	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		16	39	0	0	0	1	0	16	39				
CHD7	55636	broad.mit.edu	37	8	61654159	61654159	+	Silent	SNP	T	T	C	rs199776087		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61654159T>C	ENST00000423902.2	+	2	647	c.168T>C	c.(166-168)caT>caC	p.H56H	CHD7_ENST00000525508.1_Silent_p.H56H|CHD7_ENST00000524602.1_Silent_p.H56H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	56					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTTCATCATCCTTCAACTA	0.413																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(166-168)caT>caC		chromodomain helicase DNA binding protein 7							86.0	81.0	82.0					8																	61654159		1965	4148	6113	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654159T>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.168T>C	8.37:g.61654159T>C						CHD7_ENST00000525508.1_Silent_p.H56H|CHD7_ENST00000524602.1_Silent_p.H56H	p.H56H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	647	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	56					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.168T>C	CCDS47865.1																																																																																				0.413	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	17	0	0	0	1	0	4	17				
DNAH7	56171	broad.mit.edu	37	2	196729638	196729638	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196729638C>T	ENST00000312428.6	-	41	6841	c.6741G>A	c.(6739-6741)gaG>gaA	p.E2247E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2247					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTGAAAAAGCTCATGAAAAT	0.393																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6739-6741)gaG>gaA		dynein, axonemal, heavy chain 7							121.0	111.0	114.0					2																	196729638		1885	4118	6003	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729638C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6741G>A	2.37:g.196729638C>T							p.E2247E	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6841	-			2247					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.6741G>A	CCDS42794.1																																																																																				0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		32	58	0	0	0	1	0	32	58				
SVIL	6840	broad.mit.edu	37	10	29801769	29801769	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29801769G>A	ENST00000355867.4	-	17	4163	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	SVIL_ENST00000375400.3_Silent_p.S711S|SVIL_ENST00000535393.1_Silent_p.S35S|SVIL_ENST00000375398.2_Silent_p.S1137S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1137					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTTCCTCCCCGCTTTTCTTCA	0.552											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(3409-3411)agC>agT		supervillin							68.0	71.0	70.0					10																	29801769		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29801769G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3411C>T	10.37:g.29801769G>A			OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	SVIL_ENST00000355867.4_Silent_p.S1137S|SVIL_ENST00000535393.1_Silent_p.S35S|SVIL_ENST00000375400.3_Silent_p.S711S	p.S1137S			O95425	SVIL_HUMAN			19	3860	-		Breast(68;0.103)	1137					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.3411C>T	CCDS7164.1																																																																																				0.552	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			38	47	0	0	0	1	0	38	47				
ZNF569	148266	broad.mit.edu	37	19	37905279	37905279	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37905279C>A	ENST00000316950.6	-	6	838	c.281G>T	c.(280-282)aGa>aTa	p.R94I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R94I|ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000592490.1_Missense_Mutation_p.D20Y	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCAAAAGTCTGTCCTGGTT	0.313																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(280-282)aGa>aTa		zinc finger protein 569							52.0	53.0	52.0					19																	37905279		2202	4297	6499	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905279C>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.281G>T	19.37:g.37905279C>A	ENSP00000325018:p.Arg94Ile					ZNF569_ENST00000592490.1_Missense_Mutation_p.D20Y|ZNF569_ENST00000392149.2_Missense_Mutation_p.R94I|ZNF569_ENST00000392150.2_5'UTR	p.R94I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	838	-			94					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.281G>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	0.602	-0.828644	0.02734	.	.	ENSG00000196437	ENST00000316950	T	0.07800	3.16	3.58	0.12	0.14691	.	0.484707	0.15410	N	0.263814	T	0.04634	0.0126	N	0.21282	0.65	0.20703	N	0.999864	B	0.18461	0.028	B	0.14578	0.011	T	0.38178	-0.9673	10	0.32370	T	0.25	.	4.2795	0.10825	0.1857:0.5903:0.0:0.224	.	94	Q5MCW4	ZN569_HUMAN	I	94	ENSP00000325018:R94I	ENSP00000325018:R94I	R	-	2	0	ZNF569	42597119	0.000000	0.05858	0.888000	0.34837	0.503000	0.33858	-0.640000	0.05440	0.294000	0.22547	0.591000	0.81541	AGA		0.313	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		22	51	1	0	6.44725e-10	1	7.89499e-10	22	51				
ZNF608	57507	broad.mit.edu	37	5	123982844	123982844	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123982844A>G	ENST00000306315.5	-	4	3668	c.3233T>C	c.(3232-3234)cTt>cCt	p.L1078P	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.L651P	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1078							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCATAATAAAGTGACTGAGC	0.483																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3232-3234)cTt>cCt		zinc finger protein 608							70.0	67.0	68.0					5																	123982844		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982844A>G	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3233T>C	5.37:g.123982844A>G	ENSP00000307746:p.Leu1078Pro					ZNF608_ENST00000504926.1_Missense_Mutation_p.L651P	p.L1078P	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3668	-		all_cancers(142;0.186)|Prostate(80;0.081)	1078					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3233T>C	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222045	0.58560	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.59772	0.25;0.24	5.57	5.57	0.84162	.	0.064488	0.64402	D	0.000007	T	0.72342	0.3448	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70967	-0.4728	10	0.37606	T	0.19	-13.3759	16.0213	0.80499	1.0:0.0:0.0:0.0	.	1078	Q9ULD9	ZN608_HUMAN	P	651;1078	ENSP00000427657:L651P;ENSP00000307746:L1078P	ENSP00000307746:L1078P	L	-	2	0	ZNF608	124010743	1.000000	0.71417	0.151000	0.22473	0.945000	0.59286	9.267000	0.95665	2.239000	0.73571	0.523000	0.50628	CTT		0.483	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		21	34	0	0	0	1	0	21	34				
KALRN	8997	broad.mit.edu	37	3	124377281	124377281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124377281C>T	ENST00000291478.5	+	9	1109	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	KALRN_ENST00000428018.2_Missense_Mutation_p.R284W|KALRN_ENST00000360013.3_Missense_Mutation_p.R2013W|KALRN_ENST00000393496.1_Missense_Mutation_p.R354W|KALRN_ENST00000459915.1_Missense_Mutation_p.R105W	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2012					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTTCAGGAGCGGAAGCTGCA	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6037-6039)Cgg>Tgg		kalirin, RhoGEF kinase							153.0	127.0	136.0					3																	124377281		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124377281C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.946C>T	3.37:g.124377281C>T	ENSP00000291478:p.Arg316Trp					KALRN_ENST00000459915.1_Missense_Mutation_p.R105W|KALRN_ENST00000428018.2_Missense_Mutation_p.R284W|KALRN_ENST00000291478.4_Missense_Mutation_p.R316W|KALRN_ENST00000393496.1_Missense_Mutation_p.R354W	p.R2013W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			42	6164	+			2012			DH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6037C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764407	0.69878	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.46	4.46	0.54185	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	M	0.94142	3.5	0.47153	D	0.999338	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.997	D	0.86859	0.2028	10	0.87932	D	0	.	11.7038	0.51585	0.3023:0.6977:0.0:0.0	.	105;316;354;2012	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	W	2013;354;316;284;105	ENSP00000353109:R2013W;ENSP00000377134:R354W;ENSP00000291478:R316W;ENSP00000402419:R284W;ENSP00000420318:R105W	ENSP00000291478:R316W	R	+	1	2	KALRN	125859971	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.110000	0.41873	2.461000	0.83175	0.650000	0.86243	CGG		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		31	59	0	0	0	1	0	31	59				
RALGAPA1	253959	broad.mit.edu	37	14	36096635	36096635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36096635G>T	ENST00000389698.3	-	33	5390	c.5000C>A	c.(4999-5001)aCt>aAt	p.T1667N	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1714N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1667N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1680N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1667	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTTGGTACAGTTTCTCTAAA	0.393																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5140-5142)aCt>aAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							98.0	105.0	102.0					14																	36096635		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36096635G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5000C>A	14.37:g.36096635G>T	ENSP00000374348:p.Thr1667Asn					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1667N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1680N|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1667N	p.T1714N			Q6GYQ0	RGPA1_HUMAN			34	5531	-			1667			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5141C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460706	0.26248	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.96685	-3.35;-3.35;-3.35;-4.09;-3.35;-3.35	5.28	4.37	0.52481	.	0.258306	0.45606	D	0.000351	D	0.93959	0.8066	L	0.55481	1.735	0.33641	D	0.607222	P;B;B;B	0.47762	0.9;0.437;0.237;0.415	B;B;B;B	0.39840	0.311;0.065;0.067;0.096	D	0.94515	0.7722	10	0.25106	T	0.35	-12.6424	16.0419	0.80691	0.0:0.1346:0.8654:0.0	.	1714;1680;1667;1667	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	N	1667;1667;1667;1714;305;1680;1714	ENSP00000374348:T1667N;ENSP00000302647:T1667N;ENSP00000258840:T1714N;ENSP00000451133:T305N;ENSP00000371803:T1680N;ENSP00000451877:T1714N	ENSP00000258840:T1714N	T	-	2	0	RALGAPA1	35166386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.452000	0.66638	1.306000	0.44926	0.655000	0.94253	ACT		0.393	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		58	84	1	0	7.41606e-26	1	9.87284e-26	58	84				
MYO15A	51168	broad.mit.edu	37	17	18022853	18022853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18022853G>A	ENST00000205890.5	+	2	1077	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	247					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACTACTACGACCGGCAGTC	0.647																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(739-741)Gac>Aac		myosin XVA							40.0	46.0	44.0					17																	18022853		2093	4211	6304	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022853G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.739G>A	17.37:g.18022853G>A	ENSP00000205890:p.Asp247Asn						p.D247N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1077	+	all_neural(463;0.228)		247			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.739G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085544	0.55861	.	.	ENSG00000091536	ENST00000205890	D	0.91740	-2.9	5.67	5.67	0.87782	.	.	.	.	.	D	0.92609	0.7652	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	D	0.90782	0.4680	9	0.26408	T	0.33	.	17.5357	0.87830	0.0:0.0:1.0:0.0	.	247	Q9UKN7	MYO15_HUMAN	N	247	ENSP00000205890:D247N	ENSP00000205890:D247N	D	+	1	0	MYO15A	17963578	0.880000	0.30214	0.995000	0.50966	0.098000	0.18820	1.366000	0.34193	2.676000	0.91093	0.561000	0.74099	GAC		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		8	29	0	0	0	1	0	8	29				
EDAR	10913	broad.mit.edu	37	2	109513511	109513511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109513511C>T	ENST00000258443.2	-	12	1629	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	EDAR_ENST00000376651.1_Missense_Mutation_p.R432H|EDAR_ENST00000409271.1_Missense_Mutation_p.R432H	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400	Death.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGTGCTGATGCGGTCAAAGAG	0.567																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1294-1296)cGc>cAc		ectodysplasin A receptor							110.0	86.0	94.0					2																	109513511		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513511C>T	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1199G>A	2.37:g.109513511C>T	ENSP00000258443:p.Arg400His					EDAR_ENST00000376651.1_Missense_Mutation_p.R432H|EDAR_ENST00000258443.2_Missense_Mutation_p.R400H	p.R432H			Q9UNE0	EDAR_HUMAN			12	1738	-			400					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1295G>A	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669924	0.96754	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90133	-2.62;-2.62;-2.62	5.64	5.64	0.86602	Death (1);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93438	0.6791	10	0.87932	D	0	-42.9124	19.7209	0.96143	0.0:1.0:0.0:0.0	.	432;400	E9PC98;Q9UNE0	.;EDAR_HUMAN	H	432;400;432	ENSP00000386371:R432H;ENSP00000258443:R400H;ENSP00000365839:R432H	ENSP00000258443:R400H	R	-	2	0	EDAR	108879943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.651000	0.90000	0.650000	0.86243	CGC		0.567	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	22	0	0	0	1	0	8	22				
JAM2	58494	broad.mit.edu	37	21	27074552	27074552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074552G>A	ENST00000480456.1	+	6	1218	c.668G>A	c.(667-669)cGc>cAc	p.R223H	JAM2_ENST00000400532.1_Missense_Mutation_p.R223H|JAM2_ENST00000312957.5_Missense_Mutation_p.R223H|JAM2_ENST00000425221.2_Missense_Mutation_p.R187H	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	223	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTTGGATATCGCAGGTGTCCT	0.398																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(667-669)cGc>cAc		junctional adhesion molecule 2							73.0	66.0	68.0					21																	27074552		1862	4112	5974	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27074552G>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.668G>A	21.37:g.27074552G>A	ENSP00000420419:p.Arg223His					JAM2_ENST00000312957.5_Missense_Mutation_p.R223H|JAM2_ENST00000400532.1_Missense_Mutation_p.R223H|JAM2_ENST00000425221.2_Missense_Mutation_p.R187H	p.R223H	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			6	1218	+			223			Ig-like C2-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.668G>A	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508425	0.44660	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	4.5	3.61	0.41365	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228746	0.45361	D	0.000362	T	0.48447	0.1500	L	0.33293	1	0.33311	D	0.566141	B;B;B;B;B	0.27140	0.068;0.169;0.169;0.031;0.085	B;B;B;B;B	0.19946	0.012;0.027;0.027;0.019;0.017	T	0.56625	-0.7948	10	0.45353	T	0.12	.	5.1528	0.15019	0.2686:0.0:0.7314:0.0	.	187;223;223;223;223	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	H	223;223;223;223;223;187	ENSP00000420419:R223H;ENSP00000383376:R223H;ENSP00000318416:R223H;ENSP00000392611:R187H	ENSP00000318416:R223H	R	+	2	0	JAM2	25996423	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	3.965000	0.56788	2.473000	0.83533	0.557000	0.71058	CGC		0.398	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			13	19	0	0	0	1	0	13	19				
IPO13	9670	broad.mit.edu	37	1	44422631	44422631	+	Silent	SNP	G	G	A	rs149546323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44422631G>A	ENST00000372343.3	+	5	1916	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	418					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACGAGAAGGAGCAGTTCCGAA	0.512																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1252-1254)gaG>gaA		importin 13		G		1,4405	2.1+/-5.4	0,1,2202	59.0	57.0	58.0		1254	5.1	1.0	1	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	IPO13	NM_014652.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		418/964	44422631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422631G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1254G>A	1.37:g.44422631G>A						IPO13_ENST00000492152.1_3'UTR	p.E418E	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			5	1916	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	418					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.1254G>A	CCDS503.1																																																																																				0.512	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		15	31	0	0	0	1	0	15	31				
RAI1	10743	broad.mit.edu	37	17	17698006	17698006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17698006G>A	ENST00000353383.1	+	3	2213	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	RAI1_ENST00000261641.6_Missense_Mutation_p.D582N	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	582					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCTGCCGCTCGACAGCTTCTC	0.637																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(1744-1746)Gac>Aac		retinoic acid induced 1							77.0	77.0	77.0					17																	17698006		2203	4295	6498	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698006G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1744G>A	17.37:g.17698006G>A	ENSP00000323074:p.Asp582Asn					RAI1_ENST00000261641.6_Missense_Mutation_p.D582N	p.D582N	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2213	+			582					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1744G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138092	0.77775	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.70045	-0.45;2.29;0.15	5.18	5.18	0.71444	.	0.067257	0.64402	D	0.000010	T	0.76969	0.4062	L	0.60455	1.87	0.46131	D	0.998882	D	0.76494	0.999	P	0.60415	0.874	T	0.75496	-0.3297	10	0.36615	T	0.2	.	18.6854	0.91562	0.0:0.0:1.0:0.0	.	582	Q7Z5J4	RAI1_HUMAN	N	582;582;582;582;582;534	ENSP00000323074:D582N;ENSP00000379120:D582N;ENSP00000261641:D582N	ENSP00000261641:D582N	D	+	1	0	RAI1	17638731	1.000000	0.71417	0.990000	0.47175	0.688000	0.40055	7.400000	0.79949	2.423000	0.82170	0.561000	0.74099	GAC		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		6	61	0	0	0	1	0	6	61				
NDUFA9	4704	broad.mit.edu	37	12	4796192	4796192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4796192A>G	ENST00000266544.5	+	11	1072	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	NDUFA9_ENST00000540688.1_Missense_Mutation_p.E110G|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	351					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						AAGGCCATTGAGGTGCTGCGG	0.517																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1051-1053)gAg>gGg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						108.0	83.0	91.0					12																	4796192		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4796192A>G	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1052A>G	12.37:g.4796192A>G	ENSP00000266544:p.Glu351Gly					RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Missense_Mutation_p.E110G	p.E351G	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			11	1072	+			351					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.1052A>G	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608437	0.87258	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	T;T	0.79749	-1.21;-1.3	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	L	0.56396	1.775	0.80722	D	1	D	0.54772	0.968	P	0.51079	0.658	T	0.78252	-0.2276	10	0.15499	T	0.54	-24.0215	14.3885	0.66963	1.0:0.0:0.0:0.0	.	351	Q16795	NDUA9_HUMAN	G	351;110	ENSP00000266544:E351G;ENSP00000439818:E110G	ENSP00000266544:E351G	E	+	2	0	NDUFA9	4666453	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	8.275000	0.89892	2.100000	0.63781	0.533000	0.62120	GAG		0.517	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		3	25	0	0	0	1	0	3	25				
FAM89A	375061	broad.mit.edu	37	1	231155731	231155731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231155731C>A	ENST00000366654.4	-	2	467	c.433G>T	c.(433-435)Gag>Tag	p.E145*	FAM89A_ENST00000494111.1_5'UTR|MIR1182_ENST00000408363.1_RNA	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	145										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTCCTCCTCTTCATCGAAG	0.592																																						ENST00000366654.4																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(433-435)Gag>Tag		family with sequence similarity 89, member A							105.0	100.0	101.0					1																	231155731		2203	4300	6503	SO:0001587	stop_gained	375061							g.chr1:231155731C>A	BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 153"""	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.433G>T	1.37:g.231155731C>A	ENSP00000355614:p.Glu145*					FAM89A_ENST00000494111.1_5'UTR	p.E145*	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN			2	467	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	145						Nonsense_Mutation	SNP	ENST00000366654.4	37	c.433G>T	CCDS1590.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067401	0.76301	.	.	ENSG00000182118	ENST00000366654	.	.	.	5.86	4.95	0.65309	.	0.120804	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.4639	15.4261	0.75051	0.0:0.9333:0.0:0.0667	.	.	.	.	X	145	.	ENSP00000355614:E145X	E	-	1	0	FAM89A	229222354	1.000000	0.71417	0.380000	0.26093	0.211000	0.24417	6.010000	0.70753	1.621000	0.50320	0.650000	0.86243	GAG		0.592	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092652.1	NM_198552		9	77	1	0	3.07112e-06	1	3.52574e-06	9	77				
ZNF611	81856	broad.mit.edu	37	19	53219140	53219140	+	Missense_Mutation	SNP	C	C	T	rs146379839	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53219140C>T	ENST00000319783.1	-	5	324	c.8G>A	c.(7-9)cGt>cAt	p.R3H	ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000595798.1_De_novo_Start_OutOfFrame|ZNF611_ENST00000596702.1_Missense_Mutation_p.R3H|ZNF611_ENST00000540744.1_Missense_Mutation_p.R3H|ZNF611_ENST00000600943.1_Missense_Mutation_p.R3H|ZNF611_ENST00000453741.2_De_novo_Start_OutOfFrame|ZNF611_ENST00000543227.1_Missense_Mutation_p.R3H	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCTTCCTCACGTAACATGAG	0.428													-|||	5	0.000998403	0.003	0.0	5008	,	,		22412	0.001		0.0	False		,,,				2504	0.0					ENST00000453741.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36								zinc finger protein 611		C	HIS/ARG,HIS/ARG,,HIS/ARG	4,3018		0,4,1507	186.0	202.0	196.0		8,8,,8	-2.1	0.0	19	dbSNP_134	196	1,5417		0,1,2708	no	missense,missense,utr-5,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	29,29,,29	0,5,4215	TT,TC,CC		0.0185,0.1324,0.0592	benign,benign,,benign	3/706,3/706,,3/706	53219140	5,8435	1511	2709	4220	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53219140C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.8G>A	19.37:g.53219140C>T	ENSP00000322427:p.Arg3His					ZNF611_ENST00000319783.1_Missense_Mutation_p.R3H|ZNF611_ENST00000600943.1_Missense_Mutation_p.R3H|ZNF611_ENST00000543227.1_Missense_Mutation_p.R3H|ZNF611_ENST00000595798.1_De_novo_Start_OutOfFrame|ZNF611_ENST00000540744.1_Missense_Mutation_p.R3H|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000596702.1_Missense_Mutation_p.R3H		NM_001161501.1	NP_001154973.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	0	272	-								B3KRD5|Q69YG9	Translation_Start_Site	SNP	ENST00000319783.1	37		CCDS12855.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	.	7.679	0.688533	0.14973	0.001324	1.85E-4	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000319783	T;T;T	0.08282	3.11;3.11;3.11	1.87	-2.06	0.07298	.	.	.	.	.	T	0.05044	0.0135	L	0.29908	0.895	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	9	0.33141	T	0.24	.	2.9174	0.05757	0.361:0.2646:0.3743:0.0	.	3	Q8N823	ZN611_HUMAN	H	3	ENSP00000437616:R3H;ENSP00000439211:R3H;ENSP00000322427:R3H	ENSP00000322427:R3H	R	-	2	0	ZNF611	57910952	0.000000	0.05858	0.000000	0.03702	0.491000	0.33493	-0.868000	0.04236	-0.407000	0.07576	0.298000	0.19748	CGT		0.428	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		10	200	0	0	0	1	0	10	200				
TEFM	79736	broad.mit.edu	37	17	29226234	29226234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29226234G>A	ENST00000581216.1	-	4	1657	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	346					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										GCAATAGCTTGTAATAATGAA	0.353																																						ENST00000581216.1																			0											c.(1036-1038)Caa>Taa		transcription elongation factor, mitochondrial							136.0	131.0	132.0					17																	29226234		1833	4086	5919	SO:0001587	stop_gained	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29226234G>A		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.1036C>T	17.37:g.29226234G>A	ENSP00000462963:p.Gln346*					TEFM_ENST00000580840.1_3'UTR	p.Q346*	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN			4	1657	-			346					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Nonsense_Mutation	SNP	ENST00000581216.1	37	c.1036C>T	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	G	43	10.087960	0.99333	.	.	ENSG00000172171	ENST00000306049	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.8307	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000306574:Q346X	Q	-	1	0	C17orf42	26250360	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.569000	0.90744	2.937000	0.99478	0.650000	0.86243	CAA		0.353	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		74	99	0	0	0	1	0	74	99				
HDAC6	10013	broad.mit.edu	37	X	48663861	48663861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48663861G>A	ENST00000334136.5	+	5	506	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.E110K|HDAC6_ENST00000413163.2_Missense_Mutation_p.E55K|HDAC6_ENST00000444343.2_Missense_Mutation_p.E124K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	110	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGAAGGCCCTGAGCGGCTCCA	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(328-330)Gag>Aag		histone deacetylase 6	Vorinostat(DB02546)						51.0	41.0	45.0					X																	48663861		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48663861G>A	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.328G>A	X.37:g.48663861G>A	ENSP00000334061:p.Glu110Lys					HDAC6_ENST00000413163.2_Missense_Mutation_p.E55K|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.E124K|HDAC6_ENST00000376619.2_Missense_Mutation_p.E110K	p.E110K			Q9UBN7	HDAC6_HUMAN			5	506	+			110			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.328G>A	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297713	0.60086	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	3.5	2.64	0.31445	Histone deacetylase domain (2);	0.424355	0.19891	N	0.103724	T	0.77850	0.4192	M	0.79343	2.45	0.35006	D	0.756425	D;P;D;D	0.76494	0.996;0.774;0.996;0.999	D;P;D;D	0.71414	0.953;0.74;0.953;0.973	T	0.81428	-0.0937	10	0.54805	T	0.06	-13.526	8.0909	0.30801	0.128:0.0:0.872:0.0	.	100;55;110;110	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	K	110;110;124;110;110;110;110;55;110;110;110;110	ENSP00000365831:E110K;ENSP00000398566:E124K;ENSP00000365795:E110K;ENSP00000334061:E110K;ENSP00000365804:E110K;ENSP00000398801:E55K;ENSP00000393916:E110K;ENSP00000402189:E110K;ENSP00000402751:E110K;ENSP00000394377:E110K	ENSP00000334061:E110K	E	+	1	0	HDAC6	48548805	0.997000	0.39634	0.636000	0.29352	0.613000	0.37349	2.746000	0.47467	0.863000	0.35553	0.292000	0.19580	GAG		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		10	15	0	0	0	1	0	10	15				
IL12B	3593	broad.mit.edu	37	5	158753738	158753738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158753738G>T	ENST00000231228.2	-	2	508	c.53C>A	c.(52-54)tCt>tAt	p.S18Y		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	18					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGAGGGGAGATGCCAGAAA	0.507																																						ENST00000231228.2																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(52-54)tCt>tAt		interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)							91.0	95.0	93.0					5																	158753738		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158753738G>T	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.53C>A	5.37:g.158753738G>T	ENSP00000231228:p.Ser18Tyr						p.S18Y	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	508	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	18						Missense_Mutation	SNP	ENST00000231228.2	37	c.53C>A	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234489	0.79800	.	.	ENSG00000113302	ENST00000231228	T	0.19394	2.15	5.64	5.64	0.86602	.	0.591432	0.19008	N	0.125146	T	0.38719	0.1051	M	0.78223	2.4	0.28822	N	0.897622	P	0.50943	0.94	P	0.50537	0.643	T	0.37174	-0.9717	10	0.62326	D	0.03	-4.502	15.5804	0.76432	0.0:0.0:1.0:0.0	.	18	P29460	IL12B_HUMAN	Y	18	ENSP00000231228:S18Y	ENSP00000231228:S18Y	S	-	2	0	IL12B	158686316	0.960000	0.32886	0.990000	0.47175	0.926000	0.56050	3.215000	0.51169	2.832000	0.97577	0.655000	0.94253	TCT		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		17	25	1	0	7.41877e-09	1	8.93215e-09	17	25				
KIAA2013	90231	broad.mit.edu	37	1	11983416	11983416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983416G>T	ENST00000376572.3	-	2	1349	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	KIAA2013_ENST00000376576.3_Missense_Mutation_p.D388E	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	388						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCATCTGGTCTCGCTCCC	0.642																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(1162-1164)gaC>gaA		KIAA2013							71.0	61.0	65.0					1																	11983416		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11983416G>T	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1164C>A	1.37:g.11983416G>T	ENSP00000365756:p.Asp388Glu					KIAA2013_ENST00000376576.3_Missense_Mutation_p.D388E	p.D388E	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1349	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	388					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.1164C>A	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	3.116	-0.181562	0.06340	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.52	-2.07	0.07276	.	0.686941	0.14322	N	0.326953	T	0.22898	0.0553	N	0.11255	0.115	0.32462	N	0.544037	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44452	-0.9327	9	0.02654	T	1	0.1599	14.6345	0.68678	0.0609:0.703:0.1493:0.0869	.	388;388	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	E	388	.	ENSP00000365756:D388E	D	-	3	2	KIAA2013	11906003	0.003000	0.15002	0.972000	0.41901	0.846000	0.48090	-1.501000	0.02281	-0.568000	0.06038	0.650000	0.86243	GAC		0.642	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		5	42	1	0	0.014758	1	0.0152625	5	42				
C2CD2	25966	broad.mit.edu	37	21	43338295	43338295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43338295C>A	ENST00000380486.3	-	5	880	c.639G>T	c.(637-639)aaG>aaT	p.K213N	C2CD2_ENST00000329623.7_Missense_Mutation_p.K58N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	213						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCAAGATGTCCTTGAGAACGT	0.507																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(637-639)aaG>aaT		C2 calcium-dependent domain containing 2							138.0	108.0	118.0					21																	43338295		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43338295C>A	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.639G>T	21.37:g.43338295C>A	ENSP00000369853:p.Lys213Asn					C2CD2_ENST00000329623.7_Missense_Mutation_p.K58N	p.K213N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			5	880	-			213					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.639G>T	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944060	0.18281	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.26957	1.72;1.7	5.19	1.78	0.24846	.	0.636328	0.15736	N	0.247143	T	0.21674	0.0522	M	0.61703	1.905	0.20074	N	0.999938	P;P	0.40144	0.704;0.454	B;B	0.36922	0.236;0.115	T	0.18713	-1.0328	10	0.62326	D	0.03	-13.9385	3.7532	0.08575	0.0:0.5504:0.1996:0.25	.	58;213	Q6P6D1;Q9Y426	.;CU025_HUMAN	N	58;213	ENSP00000329302:K58N;ENSP00000369853:K213N	ENSP00000329302:K58N	K	-	3	2	C2CD2	42211364	0.265000	0.24102	0.196000	0.23383	0.017000	0.09413	0.445000	0.21677	0.669000	0.31146	0.655000	0.94253	AAG		0.507	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		19	29	1	0	3.51602e-12	1	4.4132e-12	19	29				
SNHG14	104472715	broad.mit.edu	37	15	25351672	25351672	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25351672C>T	ENST00000546682.1	+	0	3911				SNHG14_ENST00000553108.1_RNA|SNORD116-30_ENST00000516468.1_RNA|SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGCCTGGATCGATGATGACT	0.458																																						ENST00000546682.1																			0																				82.0	79.0	80.0					15																	25351672		876	1991	2867			0							g.chr15:25351672C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25351672C>T						SNORD116-29_ENST00000384516.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	3911	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.458	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			10	38	0	0	0	1	0	10	38				
SOS1	6654	broad.mit.edu	37	2	39239384	39239384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39239384G>T	ENST00000426016.1	-	15	2359	c.2273C>A	c.(2272-2274)cCt>cAt	p.P758H	SOS1_ENST00000402219.2_Missense_Mutation_p.P758H|SOS1_ENST00000395038.2_Missense_Mutation_p.P758H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	758					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AACTGTGGGAGGTGAACTCTG	0.393									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(2272-2274)cCt>cAt		son of sevenless homolog 1 (Drosophila)							190.0	174.0	179.0					2																	39239384		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39239384G>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2273C>A	2.37:g.39239384G>T	ENSP00000387784:p.Pro758His					SOS1_ENST00000395038.2_Missense_Mutation_p.P758H|SOS1_ENST00000402219.2_Missense_Mutation_p.P758H	p.P758H			Q07889	SOS1_HUMAN			15	2359	-		all_hematologic(82;0.21)	758					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2273C>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797593	0.90538	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.31510	1.49;1.49;1.49	5.87	5.87	0.94306	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.64546	-0.6382	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	758	Q07889	SOS1_HUMAN	H	758;758;490;758;758	ENSP00000387784:P758H;ENSP00000384675:P758H;ENSP00000378479:P758H	ENSP00000263879:P758H	P	-	2	0	SOS1	39092888	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.675000	0.98638	2.941000	0.99782	0.655000	0.94253	CCT		0.393	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		5	101	1	0	1.23904e-05	1	1.39987e-05	5	101				
BAG4	9530	broad.mit.edu	37	8	38065263	38065263	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38065263T>A	ENST00000287322.4	+	3	883	c.612T>A	c.(610-612)gtT>gtA	p.V204V	BAG4_ENST00000432471.2_Silent_p.V168V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	204					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGGCAGGTTCCAGGATATC	0.483																																						ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(610-612)gtT>gtA		BCL2-associated athanogene 4							64.0	66.0	65.0					8																	38065263		2203	4300	6503	SO:0001819	synonymous_variant	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38065263T>A	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.612T>A	8.37:g.38065263T>A						BAG4_ENST00000432471.2_Silent_p.V168V	p.V204V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN			3	883	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	204					B4E217|O95818	Silent	SNP	ENST00000287322.4	37	c.612T>A	CCDS6104.1																																																																																				0.483	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		4	54	0	0	0	1	0	4	54				
PCCB	5096	broad.mit.edu	37	3	136045702	136045702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136045702C>T	ENST00000251654.4	+	11	1218	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	PCCB_ENST00000482086.1_Missense_Mutation_p.A267V|PCCB_ENST00000471595.1_Missense_Mutation_p.A383V|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000466072.1_Missense_Mutation_p.A403V|PCCB_ENST00000462637.1_Missense_Mutation_p.A360V|PCCB_ENST00000490504.1_Missense_Mutation_p.A326V|PCCB_ENST00000469217.1_Missense_Mutation_p.A403V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000483687.1_Missense_Mutation_p.A364V|PCCB_ENST00000468777.1_Missense_Mutation_p.A414V	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	383	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTCTGTGATGCATTCAATATT	0.428																																						ENST00000471595.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(1147-1149)gCa>gTa		propionyl CoA carboxylase, beta polypeptide	Biotin(DB00121)|L-Valine(DB00161)						296.0	271.0	279.0					3																	136045702		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136045702C>T		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1148C>T	3.37:g.136045702C>T	ENSP00000251654:p.Ala383Val					PCCB_ENST00000466072.1_Missense_Mutation_p.A403V|PCCB_ENST00000469217.1_Missense_Mutation_p.A403V|PCCB_ENST00000251654.4_Missense_Mutation_p.A383V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000490504.1_Missense_Mutation_p.A326V|PCCB_ENST00000482086.1_Missense_Mutation_p.A267V|PCCB_ENST00000462637.1_Missense_Mutation_p.A360V|PCCB_ENST00000483687.1_Missense_Mutation_p.A364V|PCCB_ENST00000468777.1_Missense_Mutation_p.A414V	p.A383V			P05166	PCCB_HUMAN			11	1166	+			383			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.1148C>T	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202155	0.94997	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217	D;D;D;D;D;D;D;D;D	0.97959	-3.76;-3.76;-3.76;-3.76;-3.76;-4.63;-3.76;-4.63;-3.76	5.0	5.0	0.66597	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.048059	0.85682	D	0.000000	D	0.98713	0.9568	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.71674	0.983;0.966;0.998;0.998	P;P;P;P	0.62813	0.734;0.861;0.907;0.907	D	0.99734	1.1013	10	0.87932	D	0	.	18.4694	0.90767	0.0:1.0:0.0:0.0	.	300;403;383;383	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	V	383;326;364;414;360;403;267;383;403	ENSP00000251654:A383V;ENSP00000418307:A326V;ENSP00000420639:A364V;ENSP00000419129:A414V;ENSP00000420391:A360V;ENSP00000420158:A403V;ENSP00000417253:A267V;ENSP00000417549:A383V;ENSP00000419027:A403V	ENSP00000251654:A383V	A	+	2	0	PCCB	137528392	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	7.196000	0.77805	2.589000	0.87451	0.561000	0.74099	GCA		0.428	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			53	86	0	0	0	1	0	53	86				
VWF	7450	broad.mit.edu	37	12	6180463	6180463	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6180463C>A	ENST00000261405.5	-	10	1410	c.1156G>T	c.(1156-1158)Ggg>Tgg	p.G386W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	386					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTCGCCTACCTGGACATTCT	0.547																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.e10+1		von Willebrand factor	Antihemophilic Factor(DB00025)						149.0	122.0	131.0					12																	6180463		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6180463C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1156+1G>T	12.37:g.6180463C>A							p.G386_splice	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			10	1410	-			386					Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.1156_splice	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897256	0.72639	.	.	ENSG00000110799	ENST00000261405	T	0.46063	0.88	5.6	5.6	0.85130	von Willebrand factor, type C (1);von Willebrand factor, type D domain (1);	0.000000	0.42053	D	0.000777	T	0.77498	0.4139	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85190	0.1009	9	.	.	.	.	18.2006	0.89836	0.0:1.0:0.0:0.0	.	386;386	B4DNX0;P04275	.;VWF_HUMAN	W	386	ENSP00000261405:G386W	.	G	-	1	0	VWF	6050724	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	6.653000	0.74382	2.637000	0.89404	0.655000	0.94253	GGG		0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	5	35	1	0	0.0215528	1	0.0221649	5	35				
BMP1	649	broad.mit.edu	37	8	22051656	22051656	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22051656G>T	ENST00000306385.5	+	10	1936	c.1266G>T	c.(1264-1266)tgG>tgT	p.W422C	BMP1_ENST00000397814.3_Missense_Mutation_p.W422C|BMP1_ENST00000306349.8_Missense_Mutation_p.W422C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.W422C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	422	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGCAATTGGGTTGGAAAGG	0.577																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1264-1266)tgG>tgT		bone morphogenetic protein 1							73.0	77.0	75.0					8																	22051656		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22051656G>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1266G>T	8.37:g.22051656G>T	ENSP00000305714:p.Trp422Cys					BMP1_ENST00000397816.3_Missense_Mutation_p.W422C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.W422C|BMP1_ENST00000306349.8_Missense_Mutation_p.W422C	p.W422C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	10	1936	+			422			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1266G>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924751	0.73213	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.08	5.08	0.68730	CUB (5);	0.000000	0.36303	U	0.002662	T	0.57213	0.2038	M	0.64997	1.995	0.80722	D	1	P;D;D;D	0.89917	0.946;1.0;0.998;0.997	P;D;D;P	0.97110	0.886;1.0;0.936;0.887	T	0.53704	-0.8401	10	0.38643	T	0.18	.	16.3443	0.83117	0.0:0.0:1.0:0.0	.	422;495;422;422	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	C	422	ENSP00000305714:W422C;ENSP00000380917:W422C;ENSP00000306121:W422C;ENSP00000380915:W422C	ENSP00000306121:W422C	W	+	3	0	BMP1	22107601	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.947000	0.56652	2.546000	0.85860	0.561000	0.74099	TGG		0.577	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		5	65	1	0	0.000602214	1	0.000649039	5	65				
KRTAP5-9	3846	broad.mit.edu	37	11	71260186	71260186	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71260186C>A	ENST00000528743.2	+	1	721	c.483C>A	c.(481-483)gtC>gtA	p.V161V		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	161	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GATGCTGTGTCCCTGTGTGCT	0.567																																						ENST00000528743.2																			0				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(481-483)gtC>gtA		keratin associated protein 5-9							108.0	109.0	109.0					11																	71260186		2200	4293	6493	SO:0001819	synonymous_variant	3846				epidermis development	keratin filament		g.chr11:71260186C>A	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.483C>A	11.37:g.71260186C>A							p.V161V	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	721	+			161			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	c.483C>A	CCDS53677.1																																																																																				0.567	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			10	117	1	0	0.000978159	1	0.00105116	10	117				
MYH7	4625	broad.mit.edu	37	14	23892915	23892915	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23892915C>A	ENST00000355349.3	-	24	3102	c.2940G>T	c.(2938-2940)gaG>gaT	p.E980D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	980					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCATCTCCTCTGTCAGGT	0.552																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2938-2940)gaG>gaT		myosin, heavy chain 7, cardiac muscle, beta							140.0	134.0	136.0					14																	23892915		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23892915C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2940G>T	14.37:g.23892915C>A	ENSP00000347507:p.Glu980Asp						p.E980D	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	24	3102	-	all_cancers(95;2.54e-05)		980					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2940G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070412	0.55539	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84589	-1.87	5.06	1.26	0.21427	.	.	.	.	.	D	0.85452	0.5700	L	0.39085	1.19	0.40758	D	0.982976	D	0.69078	0.997	D	0.79108	0.992	T	0.79683	-0.1701	9	0.26408	T	0.33	.	8.5891	0.33677	0.0:0.5335:0.0:0.4665	.	980	P12883	MYH7_HUMAN	D	980	ENSP00000347507:E980D	ENSP00000347507:E980D	E	-	3	2	MYH7	22962755	0.955000	0.32602	0.999000	0.59377	0.922000	0.55478	0.126000	0.15769	0.066000	0.16515	-0.793000	0.03317	GAG		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		6	131	1	0	0.00116845	1	0.00124821	6	131				
C10orf76	79591	broad.mit.edu	37	10	103784949	103784949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103784949C>A	ENST00000370033.4	-	6	590	c.471G>T	c.(469-471)aaG>aaT	p.K157N		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	157						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GACATAAACTCTTCAGACTTT	0.393																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(469-471)aaG>aaT		chromosome 10 open reading frame 76							142.0	139.0	140.0					10																	103784949		1856	4106	5962	SO:0001583	missense	79591					integral to membrane		g.chr10:103784949C>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.471G>T	10.37:g.103784949C>A	ENSP00000359050:p.Lys157Asn						p.K157N	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	6	590	-		Colorectal(252;0.123)	157					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.471G>T	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942360	0.73672	.	.	ENSG00000120029	ENST00000370033	T	0.69306	-0.39	5.09	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.78929	-0.2010	10	0.72032	D	0.01	-17.8151	8.1841	0.31328	0.0:0.8156:0.0:0.1844	.	157	Q5T2E6	CJ076_HUMAN	N	157	ENSP00000359050:K157N	ENSP00000359050:K157N	K	-	3	2	C10orf76	103774939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.856000	0.39389	2.520000	0.84964	0.655000	0.94253	AAG		0.393	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		42	72	1	0	6.27289e-28	1	8.37919e-28	42	72				
DOCK8	81704	broad.mit.edu	37	9	441969	441969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:441969C>A	ENST00000453981.1	+	42	5562	c.5450C>A	c.(5449-5451)cCt>cAt	p.P1817H	DOCK8_ENST00000382329.1_Missense_Mutation_p.P1284H|DOCK8_ENST00000432829.2_Missense_Mutation_p.P1749H|DOCK8_ENST00000469391.1_Missense_Mutation_p.P1717H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1817	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAGAGCCTGCAATTACC	0.423																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5245-5247)cCt>cAt		dedicator of cytokinesis 8							112.0	108.0	109.0					9																	441969		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:441969C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5450C>A	9.37:g.441969C>A	ENSP00000408464:p.Pro1817His					DOCK8_ENST00000469391.1_Missense_Mutation_p.P1717H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1284H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P1817H	p.P1749H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	42	5562	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1817			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5246C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352396	0.82132	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.19806	2.34;2.34;2.34;2.12	5.46	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	T	0.68469	-0.5400	10	0.87932	D	0	.	14.3768	0.66884	0.0:0.9296:0.0:0.0704	.	1717;1284;1817	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	H	1817;1785;1749;1717;1284	ENSP00000408464:P1817H;ENSP00000394888:P1749H;ENSP00000419438:P1717H;ENSP00000371766:P1284H	ENSP00000287364:P1785H	P	+	2	0	DOCK8	431969	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.564000	0.82326	1.540000	0.49301	0.655000	0.94253	CCT		0.423	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		11	68	1	0	6.40141e-05	1	7.11719e-05	11	68				
KIF4B	285643	broad.mit.edu	37	5	154394629	154394629	+	Missense_Mutation	SNP	C	C	T	rs534609073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154394629C>T	ENST00000435029.4	+	1	1370	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	404					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R404C(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATTAAGTCGTTGTCTGAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21094	0.001		0.0	False		,,,				2504	0.0					ENST00000435029.4																			2	Substitution - Missense(2)	p.R404C(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1210-1212)Cgt>Tgt		kinesin family member 4B							134.0	136.0	135.0					5																	154394629		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394629C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1210C>T	5.37:g.154394629C>T	ENSP00000387875:p.Arg404Cys						p.R404C	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1370	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	404						Missense_Mutation	SNP	ENST00000435029.4	37	c.1210C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	7.443	0.641103	0.14386	.	.	ENSG00000226650	ENST00000435029	T	0.57595	0.39	1.61	1.61	0.23674	.	.	.	.	.	T	0.41143	0.1146	L	0.59436	1.845	0.26060	N	0.98137	P	0.34462	0.454	B	0.26310	0.068	T	0.35025	-0.9805	9	0.46703	T	0.11	.	5.1786	0.15148	0.3436:0.6564:0.0:0.0	.	404	Q2VIQ3	KIF4B_HUMAN	C	404	ENSP00000387875:R404C	ENSP00000387875:R404C	R	+	1	0	KIF4B	154374822	0.091000	0.21658	0.777000	0.31699	0.393000	0.30537	-0.187000	0.09656	1.213000	0.43380	0.563000	0.77884	CGT		0.453	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			10	104	0	0	0	1	0	10	104				
ABI3BP	25890	broad.mit.edu	37	3	100617649	100617649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100617649G>A	ENST00000284322.5	-	4	548	c.439C>T	c.(439-441)Cca>Tca	p.P147S	ABI3BP_ENST00000471714.1_Missense_Mutation_p.P147S|ABI3BP_ENST00000532144.1_5'Flank|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P147S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	147	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCATGGTGTGGGTTGATGAGG	0.473																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(439-441)Cca>Tca		ABI family, member 3 (NESH) binding protein							79.0	86.0	84.0					3																	100617649		2106	4238	6344	SO:0001583	missense	25890					extracellular space		g.chr3:100617649G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.439C>T	3.37:g.100617649G>A	ENSP00000284322:p.Pro147Ser					ABI3BP_ENST00000495063.1_Missense_Mutation_p.P147S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P147S	p.P147S			Q7Z7G0	TARSH_HUMAN			4	548	-			147			Fibronectin type-III 1.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.439C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813971	0.90790	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.47	5.47	0.80525	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.047130	0.85682	D	0.000000	D	0.86372	0.5917	L	0.45581	1.43	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.989	P;D;P	0.66351	0.776;0.943;0.744	D	0.87056	0.2150	10	0.62326	D	0.03	-7.5695	18.1057	0.89519	0.0:0.0:1.0:0.0	.	140;147;147	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	S	147;147;147;66;87	ENSP00000420524:P147S;ENSP00000284322:P147S;ENSP00000433993:P147S;ENSP00000435319:P66S;ENSP00000436918:P87S	ENSP00000284322:P147S	P	-	1	0	ABI3BP	102100339	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.942000	0.70203	2.564000	0.86499	0.655000	0.94253	CCA		0.473	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			37	34	0	0	0	1	0	37	34				
SLC6A5	9152	broad.mit.edu	37	11	20625938	20625938	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20625938G>T	ENST00000525748.1	+	3	920	c.647G>T	c.(646-648)aGg>aTg	p.R216M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	216					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATGTCTGGAGGTTTCCCTAC	0.632																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(646-648)aGg>aTg		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						126.0	122.0	123.0					11																	20625938		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20625938G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.647G>T	11.37:g.20625938G>T	ENSP00000434364:p.Arg216Met						p.R216M	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			3	920	+			216					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.647G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741768	0.89573	.	.	ENSG00000165970	ENST00000525748	D	0.84370	-1.84	4.63	4.63	0.57726	.	0.046947	0.85682	D	0.000000	D	0.94568	0.8250	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96198	0.9143	10	0.87932	D	0	.	17.4615	0.87621	0.0:0.0:1.0:0.0	.	216	Q9Y345	SC6A5_HUMAN	M	216	ENSP00000434364:R216M	ENSP00000434364:R216M	R	+	2	0	SLC6A5	20582514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.293000	0.77203	0.462000	0.41574	AGG		0.632	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		7	137	1	0	0.000157383	1	0.00017284	7	137				
AHNAK	79026	broad.mit.edu	37	11	62302477	62302477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62302477G>T	ENST00000378024.4	-	4	614	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	AHNAK_ENST00000530124.1_Missense_Mutation_p.L114M|RP11-864I4.3_ENST00000544108.1_RNA|AHNAK_ENST00000257247.7_Missense_Mutation_p.L114M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	114					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTACTCACCAGAACCACTTCA	0.672																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(340-342)Ctg>Atg		AHNAK nucleoprotein							53.0	46.0	49.0					11																	62302477		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62302477G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.340C>A	11.37:g.62302477G>T	ENSP00000367263:p.Leu114Met					AHNAK_ENST00000257247.7_Missense_Mutation_p.L114M|AHNAK_ENST00000530124.1_Missense_Mutation_p.L114M	p.L114M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			4	614	-		Melanoma(852;0.155)	114					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.340C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262279	0.80358	.	.	ENSG00000124942	ENST00000530124;ENST00000257247;ENST00000533365;ENST00000378024;ENST00000533743;ENST00000530285;ENST00000528508	T;T;T;T;T;T	0.67171	0.15;-0.25;0.21;2.56;0.03;0.02	5.53	5.53	0.82687	.	0.000000	0.29987	U	0.010698	T	0.77157	0.4089	L	0.47716	1.5	0.30465	N	0.773857	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.73347	-0.4011	10	0.32370	T	0.25	-16.4686	18.2362	0.89950	0.0:0.0:1.0:0.0	.	114;114	Q09666;A1A586	AHNK_HUMAN;.	M	114;114;114;114;38;114;114	ENSP00000433789:L114M;ENSP00000257247:L114M;ENSP00000433635:L114M;ENSP00000367263:L114M;ENSP00000433286:L114M;ENSP00000435357:L114M	ENSP00000257247:L114M	L	-	1	2	AHNAK	62059053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.859000	0.55987	2.606000	0.88127	0.650000	0.86243	CTG		0.672	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	26	1	0	4.3838e-07	1	5.12524e-07	14	26				
EZH1	2145	broad.mit.edu	37	17	40858040	40858040	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40858040C>A	ENST00000428826.2	-	16	1945	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	EZH1_ENST00000585893.1_Missense_Mutation_p.Q568H|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Missense_Mutation_p.Q608H|EZH1_ENST00000415827.2_Missense_Mutation_p.Q599H|EZH1_ENST00000435174.1_Missense_Mutation_p.Q469H|EZH1_ENST00000590078.1_Missense_Mutation_p.Q538H			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	608					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGTCCACGCTGGATGCTGC	0.542																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1822-1824)caG>caT		enhancer of zeste homolog 1 (Drosophila)							104.0	79.0	87.0					17																	40858040		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40858040C>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1824G>T	17.37:g.40858040C>A	ENSP00000404658:p.Gln608His					EZH1_ENST00000592743.1_Missense_Mutation_p.Q608H|EZH1_ENST00000435174.1_Missense_Mutation_p.Q469H|EZH1_ENST00000415827.2_Missense_Mutation_p.Q599H|EZH1_ENST00000590078.1_Missense_Mutation_p.Q538H|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000585893.1_Missense_Mutation_p.Q568H	p.Q608H			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	16	1945	-		Breast(137;0.00104)	608					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1824G>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845277	0.51164	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.84370	-1.84;-1.84	5.19	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.92479	0.7612	M	0.92923	3.36	0.54753	D	0.999984	P;P;P;P;P	0.41420	0.482;0.749;0.749;0.749;0.633	B;P;P;P;B	0.56563	0.333;0.801;0.627;0.627;0.423	D	0.93153	0.6551	10	0.66056	D	0.02	.	11.0344	0.47791	0.0:0.8513:0.0:0.1487	.	469;568;614;538;608	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	H	611;608;568;469	ENSP00000404658:Q608H;ENSP00000404071:Q469H	ENSP00000264646:Q611H	Q	-	3	2	EZH1	38111566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.424000	0.44714	1.421000	0.47157	0.561000	0.74099	CAG		0.542	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		10	7	1	0	0.000673444	1	0.000724755	10	7				
TMEM181	57583	broad.mit.edu	37	6	159010761	159010761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159010761G>T	ENST00000367090.3	+	6	861	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	284					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCAGTATACAGTGATAGTGGG	0.433																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(850-852)Gtg>Ttg		transmembrane protein 181							153.0	146.0	148.0					6																	159010761		1943	4148	6091	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159010761G>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.850G>T	6.37:g.159010761G>T	ENSP00000356057:p.Val284Leu						p.V284L	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	6	861	+		Breast(66;0.000776)|Ovarian(120;0.0303)	284					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.850G>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506120	0.12883	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.49139	0.79	5.2	5.2	0.72013	.	0.116625	0.64402	D	0.000014	T	0.14874	0.0359	N	0.24115	0.695	0.21527	N	0.999653	B;B	0.22480	0.04;0.07	B;B	0.24974	0.057;0.057	T	0.07597	-1.0764	10	0.10377	T	0.69	.	12.3526	0.55157	0.0:0.1701:0.8299:0.0	.	284;195	Q9P2C4;Q8N4V6	TM181_HUMAN;.	L	191;284	ENSP00000356057:V284L	ENSP00000323755:V191L	V	+	1	0	TMEM181	158930749	0.993000	0.37304	0.087000	0.20705	0.231000	0.25187	2.810000	0.47979	2.588000	0.87417	0.561000	0.74099	GTG		0.433	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		5	35	1	0	3.59834e-05	1	4.01776e-05	5	35				
IGSF21	84966	broad.mit.edu	37	1	18692015	18692015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18692015G>A	ENST00000251296.1	+	6	1222	c.839G>A	c.(838-840)aGc>aAc	p.S280N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	280						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGTCCACAGCGCCGAGCCC	0.637																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(838-840)aGc>aAc		immunoglobin superfamily, member 21							112.0	110.0	111.0					1																	18692015		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692015G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.839G>A	1.37:g.18692015G>A	ENSP00000251296:p.Ser280Asn						p.S280N	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1222	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	280					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.839G>A	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491979	0.26774	.	.	ENSG00000117154	ENST00000251296	T	0.56275	0.47	4.28	3.36	0.38483	.	0.234164	0.52532	D	0.000068	T	0.33556	0.0867	L	0.27053	0.805	0.46437	D	0.999048	B	0.02656	0.0	B	0.04013	0.001	T	0.08513	-1.0718	10	0.17832	T	0.49	-6.6275	7.5514	0.27800	0.0917:0.0:0.746:0.1623	.	280	Q96ID5	IGS21_HUMAN	N	280	ENSP00000251296:S280N	ENSP00000251296:S280N	S	+	2	0	IGSF21	18564602	1.000000	0.71417	0.930000	0.37139	0.992000	0.81027	4.445000	0.60007	1.150000	0.42419	0.561000	0.74099	AGC		0.637	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		36	60	0	0	0	1	0	36	60				
TRAM1L1	133022	broad.mit.edu	37	4	118005516	118005516	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:118005516C>A	ENST00000310754.4	-	1	1220	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	345					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1033-1035)aGa>aTa		translocation associated membrane protein 1-like 1							161.0	166.0	164.0					4																	118005516		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005516C>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1034G>T	4.37:g.118005516C>A	ENSP00000309402:p.Arg345Ile						p.R345I	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	1220	-			345					Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1034G>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396733	0.42512	.	.	ENSG00000174599	ENST00000310754	T	0.44881	0.91	3.92	3.92	0.45320	.	2.710140	0.01155	N	0.006509	T	0.31040	0.0784	N	0.08118	0	0.46113	D	0.998878	B	0.23249	0.082	B	0.24701	0.055	T	0.08289	-1.0729	10	0.44086	T	0.13	-23.5667	11.7461	0.51821	0.0:1.0:0.0:0.0	.	345	Q8N609	TR1L1_HUMAN	I	345	ENSP00000309402:R345I	ENSP00000309402:R345I	R	-	2	0	TRAM1L1	118224964	0.980000	0.34600	0.948000	0.38648	0.864000	0.49448	0.955000	0.29188	2.488000	0.83962	0.650000	0.86243	AGA		0.388	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		70	123	1	0	8.73484e-25	1	1.15969e-24	70	123				
KMT2C	58508	broad.mit.edu	37	7	152012407	152012407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152012407A>G	ENST00000262189.6	-	4	624	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	KMT2C_ENST00000355193.2_Missense_Mutation_p.F136L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	136					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGTAACAAAAAGCGCAGAGC	0.368																																						ENST00000355193.2																			0											c.(406-408)Ttt>Ctt		lysine (K)-specific methyltransferase 2C							97.0	92.0	94.0					7																	152012407		2203	4300	6503	SO:0001583	missense	58508							g.chr7:152012407A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.406T>C	7.37:g.152012407A>G	ENSP00000262189:p.Phe136Leu					KMT2C_ENST00000262189.6_Missense_Mutation_p.F136L	p.F136L							4	624	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.406T>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886998	0.91814	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	D;D	0.83914	-1.78;-1.78	5.68	5.68	0.88126	.	0.000000	0.46442	D	0.000291	D	0.84019	0.5380	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.79137	-0.1927	10	0.02654	T	1	.	15.9299	0.79651	1.0:0.0:0.0:0.0	.	136	Q8NEZ4	MLL3_HUMAN	L	136;136;137	ENSP00000262189:F136L;ENSP00000347325:F136L	ENSP00000262189:F136L	F	-	1	0	MLL3	151643340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.907000	0.87430	2.162000	0.67917	0.460000	0.39030	TTT		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			33	102	0	0	0	1	0	33	102				
GALNT9	50614	broad.mit.edu	37	12	132681707	132681707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132681707C>A	ENST00000328957.8	-	11	1756	c.1757G>T	c.(1756-1758)aGg>aTg	p.R586M	GALNT9_ENST00000541995.1_Missense_Mutation_p.R220M|GALNT9_ENST00000535228.1_Missense_Mutation_p.R337M|GALNT9_ENST00000397325.2_Missense_Mutation_p.R220M	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	586	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCCGAGCACCTCTGTACCAC	0.647																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1756-1758)aGg>aTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							61.0	77.0	72.0					12																	132681707		2089	4212	6301	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132681707C>A	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1757G>T	12.37:g.132681707C>A	ENSP00000329846:p.Arg586Met					GALNT9_ENST00000397325.2_Missense_Mutation_p.R220M|GALNT9_ENST00000541995.1_Missense_Mutation_p.R220M|GALNT9_ENST00000535228.1_Missense_Mutation_p.R337M	p.R586M	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	11	1756	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	586			Ricin B-type lectin.		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1757G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.65|18.65	3.669068|3.669068	0.67814|0.67814	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000411988|ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995	.|T;T;T;T	.|0.27720	.|1.65;1.65;1.65;1.65	4.45|4.45	4.45|4.45	0.53987|0.53987	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48447|0.48447	0.1500|0.1500	L|L	0.58428|0.58428	1.81|1.81	0.48830|0.48830	D|D	0.999716|0.999716	.|D;D;D	.|0.76494	.|0.997;0.999;0.984	.|D;D;D	.|0.72982	.|0.979;0.962;0.935	T|T	0.44143|0.44143	-0.9347|-0.9347	5|10	.|0.46703	.|T	.|0.11	.|.	11.6984|11.6984	0.51556|0.51556	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.	.|337;586;443	.|B3KNR7;Q9HCQ5;B3KP58	.|.;GALT9_HUMAN;.	D|M	358|220;586;337;220	.|ENSP00000380488:R220M;ENSP00000329846:R586M;ENSP00000439745:R337M;ENSP00000440544:R220M	.|ENSP00000329846:R586M	E|R	-|-	3|2	2|0	GALNT9|GALNT9	131247660|131247660	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.988000|0.988000	0.76386|0.76386	4.606000|4.606000	0.61126|0.61126	1.997000|1.997000	0.58415|0.58415	0.457000|0.457000	0.33378|0.33378	GAG|AGG		0.647	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		7	40	1	0	1.6384e-10	1	2.02096e-10	7	40				
ACER1	125981	broad.mit.edu	37	19	6312450	6312450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312450C>T	ENST00000301452.4	-	2	231	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	52					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CGCTTCTGGGCATACGGGTGC	0.552																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(154-156)Gcc>Acc		alkaline ceramidase 1							143.0	131.0	135.0					19																	6312450		2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6312450C>T	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.154G>A	19.37:g.6312450C>T	ENSP00000301452:p.Ala52Thr						p.A52T	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			2	231	-			52						Missense_Mutation	SNP	ENST00000301452.4	37	c.154G>A	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760747	0.69763	.	.	ENSG00000167769	ENST00000301452	T	0.44083	0.93	5.18	0.509	0.16977	.	0.313604	0.37857	N	0.001918	T	0.51024	0.1650	M	0.73962	2.25	0.45946	D	0.998776	P	0.50819	0.939	P	0.53988	0.739	T	0.50039	-0.8874	10	0.51188	T	0.08	-14.0409	9.1933	0.37213	0.0:0.6873:0.0:0.3127	.	52	Q8TDN7	ACER1_HUMAN	T	52	ENSP00000301452:A52T	ENSP00000301452:A52T	A	-	1	0	ACER1	6263450	0.195000	0.23338	0.488000	0.27440	0.482000	0.33219	0.613000	0.24299	0.030000	0.15379	0.491000	0.48974	GCC		0.552	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		33	55	0	0	0	1	0	33	55				
CTBP1	1487	broad.mit.edu	37	4	1232011	1232011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1232011G>A	ENST00000290921.6	-	2	336	c.155C>T	c.(154-156)gCc>gTc	p.A52V	CTBP1_ENST00000510568.1_Missense_Mutation_p.A41V|CTBP1_ENST00000382952.3_Missense_Mutation_p.A41V|CTBP1_ENST00000515690.1_5'UTR	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	52	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GTCGCAGAAGGCCACAGTGGC	0.657																																						ENST00000510568.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(121-123)gCc>gTc		C-terminal binding protein 1							69.0	66.0	67.0					4																	1232011		2203	4298	6501	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1232011G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.155C>T	4.37:g.1232011G>A	ENSP00000290921:p.Ala52Val					CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Missense_Mutation_p.A52V|CTBP1_ENST00000382952.3_Missense_Mutation_p.A41V	p.A41V			Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	2	713	-			52			Interaction with GLIS2 1 (By similarity).		Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.122C>T	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924415	0.73213	.	.	ENSG00000159692	ENST00000382952;ENST00000290921;ENST00000506180;ENST00000514210;ENST00000515399;ENST00000513420;ENST00000510568	D;D;D;D;D;D;T	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;0.64	4.62	4.62	0.57501	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	L	0.35249	1.045	0.80722	D	1	D;P;P	0.69078	0.997;0.838;0.838	D;P;P	0.70935	0.971;0.669;0.551	D	0.86338	0.1703	10	0.40728	T	0.16	-26.3101	17.4889	0.87698	0.0:0.0:1.0:0.0	.	41;52;41	E7EUB3;Q13363;Q7Z2Q5	.;CTBP1_HUMAN;.	V	41;52;46;41;41;41;41	ENSP00000372411:A41V;ENSP00000290921:A52V;ENSP00000424684:A46V;ENSP00000426470:A41V;ENSP00000425053:A41V;ENSP00000420983:A41V;ENSP00000423872:A41V	ENSP00000290921:A52V	A	-	2	0	CTBP1	1222011	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	9.362000	0.97126	2.113000	0.64589	0.655000	0.94253	GCC		0.657	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		36	52	0	0	0	1	0	36	52				
EXTL3	2137	broad.mit.edu	37	8	28573840	28573840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573840G>A	ENST00000220562.4	+	3	1166	c.264G>A	c.(262-264)tcG>tcA	p.S88S	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	88					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.S88S(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCGGGAGTCGGTGAGTGAAG	0.582																																						ENST00000220562.4																			2	Substitution - coding silent(2)	p.S88S(2)	large_intestine(1)|lung(1)	biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(262-264)tcG>tcA		exostosin-like glycosyltransferase 3							59.0	58.0	58.0					8																	28573840		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573840G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.264G>A	8.37:g.28573840G>A						EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.S88S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1166	+		Ovarian(32;0.069)	88					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.264G>A	CCDS6070.1																																																																																				0.582	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		12	27	0	0	0	1	0	12	27				
OR10W1	81341	broad.mit.edu	37	11	58035078	58035078	+	Missense_Mutation	SNP	G	G	T	rs142581541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58035078G>T	ENST00000395079.2	-	1	654	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAGCCCAGGAGAGTGATGGTC	0.537																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(253-255)Ctc>Atc		olfactory receptor, family 10, subfamily W, member 1							88.0	82.0	84.0					11																	58035078		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58035078G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.253C>A	11.37:g.58035078G>T	ENSP00000378516:p.Leu85Ile						p.L85I	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	654	-		Breast(21;0.0589)	85					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.253C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737626	0.15574	.	.	ENSG00000172772	ENST00000395079	T	0.00478	7.13	5.66	-2.8	0.05823	GPCR, rhodopsin-like superfamily (1);	0.396877	0.17398	N	0.175641	T	0.00328	0.0010	L	0.43923	1.385	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.41716	-0.9493	10	0.51188	T	0.08	.	6.3493	0.21367	0.5744:0.2582:0.1674:0.0	.	85	Q8NGF6	O10W1_HUMAN	I	85	ENSP00000378516:L85I	ENSP00000378516:L85I	L	-	1	0	OR10W1	57791654	0.000000	0.05858	0.000000	0.03702	0.459000	0.32528	-0.566000	0.05922	-0.519000	0.06444	0.655000	0.94253	CTC		0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		12	24	1	0	2.27111e-07	1	2.66951e-07	12	24				
ADAM10	102	broad.mit.edu	37	15	58889778	58889778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58889778C>A	ENST00000260408.3	-	16	2658	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	snoU13_ENST00000458913.1_RNA|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Nonsense_Mutation_p.E438*	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	739					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGATAACTCTCTCGGGGCCGC	0.468																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(2215-2217)Gag>Tag		ADAM metallopeptidase domain 10							114.0	106.0	109.0					15																	58889778		2192	4292	6484	SO:0001587	stop_gained	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58889778C>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.2215G>T	15.37:g.58889778C>A	ENSP00000260408:p.Glu739*					ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Nonsense_Mutation_p.E438*|ADAM10_ENST00000402627.1_Intron	p.E739*	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	16	2658	-			739					B4DU28|Q10742|Q92650	Nonsense_Mutation	SNP	ENST00000260408.3	37	c.2215G>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	42	9.760749	0.99257	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-23.8639	18.9694	0.92709	0.0:1.0:0.0:0.0	.	.	.	.	X	739;558;438	.	ENSP00000260408:E739X	E	-	1	0	ADAM10	56677070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.127000	0.77210	2.712000	0.92718	0.563000	0.77884	GAG		0.468	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		5	57	1	0	0.184627	1	0.186383	5	57				
EVC	2121	broad.mit.edu	37	4	5733317	5733317	+	Missense_Mutation	SNP	G	G	A	rs41269549	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5733317G>A	ENST00000264956.6	+	4	734	c.550G>A	c.(550-552)Gat>Aat	p.D184N	EVC_ENST00000382674.2_Missense_Mutation_p.D184N|EVC_ENST00000509451.1_Missense_Mutation_p.D184N	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	184					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCCACCAGCGATGACAGGTT	0.632													G|||	6	0.00119808	0.0008	0.0	5008	,	,		17979	0.001		0.003	False		,,,				2504	0.001					ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(550-552)Gat>Aat		Ellis van Creveld syndrome		G	ASN/ASP	6,4400	9.9+/-24.2	0,6,2197	74.0	65.0	68.0		550	3.2	0.2	4	dbSNP_127	68	28,8572	19.8+/-62.0	0,28,4272	yes	missense	EVC	NM_153717.2	23	0,34,6469	AA,AG,GG		0.3256,0.1362,0.2614	possibly-damaging	184/993	5733317	34,12972	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5733317G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.550G>A	4.37:g.5733317G>A	ENSP00000264956:p.Asp184Asn					EVC_ENST00000509451.1_Missense_Mutation_p.D184N|EVC_ENST00000264956.6_Missense_Mutation_p.D184N	p.D184N			P57679	EVC_HUMAN			4	734	+		Myeloproliferative disorder(84;0.117)	184						Missense_Mutation	SNP	ENST00000264956.6	37	c.550G>A	CCDS3383.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	15.45	2.836926	0.50951	0.001362	0.003256	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.56941	0.43;0.43;0.46	4.06	3.2	0.36748	.	0.280307	0.35615	N	0.003086	T	0.51601	0.1684	L	0.59436	1.845	0.30840	N	0.735728	D	0.54397	0.966	P	0.45681	0.49	T	0.59841	-0.7378	10	0.48119	T	0.1	.	12.5353	0.56138	0.0:0.0:0.8323:0.1677	rs41269549	184	P57679	EVC_HUMAN	N	184	ENSP00000264956:D184N;ENSP00000372120:D184N;ENSP00000426774:D184N	ENSP00000264956:D184N	D	+	1	0	EVC	5784218	0.983000	0.35010	0.151000	0.22473	0.477000	0.33069	3.826000	0.55738	1.039000	0.40074	0.561000	0.74099	GAT		0.632	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			4	46	0	0	0	1	0	4	46				
PPP1CA	5499	broad.mit.edu	37	11	67166542	67166542	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67166542A>G	ENST00000376745.4	-	5	764	c.616T>C	c.(616-618)Tgg>Cgg	p.W206R	PPP1CA_ENST00000312989.7_Missense_Mutation_p.W217R|PPP1CA_ENST00000358239.4_Missense_Mutation_p.W162R|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	206					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGGTCAGACCACAGCAGGTCA	0.632																																						ENST00000376745.4																			0				breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7						c.(616-618)Tgg>Cgg		protein phosphatase 1, catalytic subunit, alpha isozyme							64.0	64.0	64.0					11																	67166542		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67166542A>G		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.616T>C	11.37:g.67166542A>G	ENSP00000365936:p.Trp206Arg					PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.W217R|PPP1CA_ENST00000358239.4_Missense_Mutation_p.W162R	p.W206R	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		5	764	-			206					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.616T>C	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.886867	0.72410	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239;ENST00000527663	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.7	5.7	0.88788	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	H	0.99992	5.355	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	1.0;1.0;0.999;0.997;0.999;1.0	D	0.84463	0.0595	10	0.87932	D	0	-12.1401	14.9559	0.71113	1.0:0.0:0.0:0.0	.	303;303;206;162;217;215	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	R	217;303;206;162;171	ENSP00000326031:W217R;ENSP00000365936:W206R;ENSP00000350974:W162R;ENSP00000431146:W171R	ENSP00000326031:W217R	W	-	1	0	PPP1CA	66923118	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.257000	0.95545	2.164000	0.68074	0.533000	0.62120	TGG		0.632	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		5	74	0	0	0	1	0	5	74				
THBS2	7058	broad.mit.edu	37	6	169622506	169622506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622506C>T	ENST00000366787.3	-	20	3308	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1020	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCGTCGTCCCGGTCAGTGTT	0.522																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(3058-3060)cGg>cAg		thrombospondin 2							97.0	91.0	93.0					6																	169622506		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169622506C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3059G>A	6.37:g.169622506C>T	ENSP00000355751:p.Arg1020Gln					XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.R1020Q	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	20	3308	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1020			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3059G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.361051	0.61403	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.95069	-3.6	4.29	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.39341	U	0.001382	D	0.92283	0.7552	L	0.41236	1.265	0.37542	D	0.918351	D	0.89917	1.0	P	0.59357	0.856	D	0.91551	0.5257	10	0.46703	T	0.11	-39.4421	11.7747	0.51979	0.0:0.9133:0.0:0.0867	.	1020	P35442	TSP2_HUMAN	Q	1020;278	ENSP00000355751:R1020Q	ENSP00000355751:R1020Q	R	-	2	0	THBS2	169364431	1.000000	0.71417	0.946000	0.38457	0.086000	0.17979	7.276000	0.78559	0.783000	0.33636	0.478000	0.44815	CGG		0.522	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		4	41	0	0	0	1	0	4	41				
UGT1A1	54658	broad.mit.edu	37	2	234669695	234669695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234669695G>A	ENST00000608383.1	+	1	762	c.762G>A	c.(760-762)tgG>tgA	p.W254*	UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000360418.3_Nonsense_Mutation_p.W254*|UGT1A8_ENST00000305208.5_Nonsense_Mutation_p.W254*|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	254					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATCTGTCTGGCTGTTTAGAA	0.478																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(760-762)tgG>tgA			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						180.0	177.0	178.0					2																	234669695		2203	4300	6503	SO:0001587	stop_gained	0				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669695G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.762G>A	2.37:g.234669695G>A	ENSP00000476741:p.Trp254*					UGT1A1_ENST00000305208.5_Nonsense_Mutation_p.W254*|UGT1A3_ENST00000482026.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron	p.W254*			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	762	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	254					A6NJC3|B8K286	Nonsense_Mutation	SNP	ENST00000608383.1	37	c.762G>A	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693315	0.96793	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5182	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	254	.	ENSP00000304845:W254X	W	+	3	0	UGT1A1	234334434	1.000000	0.71417	0.998000	0.56505	0.583000	0.36354	9.819000	0.99357	2.603000	0.88011	0.655000	0.94253	TGG		0.478	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				57	74	0	0	0	1	0	57	74				
GDPD5	81544	broad.mit.edu	37	11	75153512	75153512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75153512G>T	ENST00000336898.3	-	12	1900	c.1063C>A	c.(1063-1065)Ctg>Atg	p.L355M	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.L236M|GDPD5_ENST00000533805.1_Missense_Mutation_p.L110M|GDPD5_ENST00000529721.1_Missense_Mutation_p.L355M|GDPD5_ENST00000533784.1_Missense_Mutation_p.L236M|GDPD5_ENST00000526177.1_Missense_Mutation_p.L217M	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	355	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTGAGCAGCAGTGTGGCATTG	0.647																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(649-651)Ctg>Atg		glycerophosphodiester phosphodiesterase domain containing 5							44.0	42.0	43.0					11																	75153512		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75153512G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1063C>A	11.37:g.75153512G>T	ENSP00000337972:p.Leu355Met					GDPD5_ENST00000533784.1_Missense_Mutation_p.L236M|GDPD5_ENST00000533805.1_Missense_Mutation_p.L110M|GDPD5_ENST00000336898.3_Missense_Mutation_p.L355M|GDPD5_ENST00000376282.3_Missense_Mutation_p.L236M|GDPD5_ENST00000529721.1_Missense_Mutation_p.L355M|GDPD5_ENST00000443276.2_3'UTR	p.L217M			Q8WTR4	GDPD5_HUMAN			8	2527	-			355					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.649C>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216647	0.58452	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	5.54	1.47	0.22746	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.274127	0.31031	N	0.008398	T	0.31263	0.0791	M	0.70595	2.14	0.54753	D	0.999986	D;D	0.65815	0.995;0.978	D;P	0.63793	0.918;0.878	T	0.02226	-1.1192	10	0.66056	D	0.02	-9.5296	5.2742	0.15641	0.2363:0.2746:0.4891:0.0	.	236;355	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	M	217;236;355;355;110;236	ENSP00000434050:L217M;ENSP00000437049:L236M;ENSP00000433214:L355M;ENSP00000337972:L355M;ENSP00000435196:L110M;ENSP00000365459:L236M	ENSP00000337972:L355M	L	-	1	2	GDPD5	74831160	0.879000	0.30193	0.344000	0.25628	0.971000	0.66376	1.522000	0.35921	0.023000	0.15187	0.450000	0.29827	CTG		0.647	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		7	20	1	0	5.18039e-06	1	5.91835e-06	7	20				
DOCK3	1795	broad.mit.edu	37	3	51263172	51263172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51263172T>C	ENST00000266037.9	+	15	1368	c.1345T>C	c.(1345-1347)Tat>Cat	p.Y449H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	449	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTGACCATGTATGTGCTTTA	0.443																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1345-1347)Tat>Cat		dedicator of cytokinesis 3							166.0	163.0	164.0					3																	51263172		1891	4122	6013	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51263172T>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1345T>C	3.37:g.51263172T>C	ENSP00000266037:p.Tyr449His						p.Y449H	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	15	1368	+			449			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1345T>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978650	0.34942	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	5.46	5.46	0.80206	.	0.054866	0.85682	D	0.000000	T	0.09642	0.0237	L	0.28115	0.83	0.51233	D	0.999919	B	0.17038	0.02	B	0.20384	0.029	T	0.23726	-1.0180	10	0.15952	T	0.53	.	10.2478	0.43352	0.0:0.0739:0.0:0.9261	.	449	Q8IZD9	DOCK3_HUMAN	H	449	ENSP00000266037:Y449H	ENSP00000266037:Y449H	Y	+	1	0	DOCK3	51238212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.207000	0.71202	0.533000	0.62120	TAT		0.443	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		42	57	0	0	0	1	0	42	57				
ABCF3	55324	broad.mit.edu	37	3	183905481	183905481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183905481C>T	ENST00000429586.2	+	5	563	c.378C>T	c.(376-378)gcC>gcT	p.A126A	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.A120A	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	126					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAGAGAAGGCCGAGGCTCGAC	0.527																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(376-378)gcC>gcT		ATP-binding cassette, sub-family F (GCN20), member 3							82.0	75.0	77.0					3																	183905481		2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183905481C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.378C>T	3.37:g.183905481C>T						ABCF3_ENST00000292808.5_Silent_p.A120A|EIF2B5_ENST00000444495.1_Intron	p.A126A	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	563	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		126					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.378C>T	CCDS3254.1																																																																																				0.527	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		16	20	0	0	0	1	0	16	20				
HCRTR2	3062	broad.mit.edu	37	6	55113475	55113475	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55113475G>T	ENST00000370862.3	+	2	598	c.262G>T	c.(262-264)Gta>Tta	p.V88L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	88					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATGAGGACGGTAACCAACTA	0.448																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(262-264)Gta>Tta		hypocretin (orexin) receptor 2							212.0	188.0	196.0					6																	55113475		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113475G>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.262G>T	6.37:g.55113475G>T	ENSP00000359899:p.Val88Leu						p.V88L	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	598	+	Lung NSC(77;0.107)|Renal(3;0.122)		88					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.262G>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968571	0.92855	.	.	ENSG00000137252	ENST00000370862	T	0.19532	2.14	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.84773	2.715	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.77557	0.978;0.99	T	0.54417	-0.8297	10	0.72032	D	0.01	.	18.8648	0.92287	0.0:0.0:1.0:0.0	.	88;88	Q548Y0;O43614	.;OX2R_HUMAN	L	88	ENSP00000359899:V88L	ENSP00000359899:V88L	V	+	1	0	HCRTR2	55221434	1.000000	0.71417	0.879000	0.34478	0.924000	0.55760	9.476000	0.97823	2.461000	0.83175	0.650000	0.86243	GTA		0.448	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			10	121	1	0	2.17888e-05	1	2.45068e-05	10	121				
ADAMTSL3	57188	broad.mit.edu	37	15	84657498	84657498	+	Nonsense_Mutation	SNP	C	C	T	rs574663428	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84657498C>T	ENST00000286744.5	+	22	3996	c.3772C>T	c.(3772-3774)Caa>Taa	p.Q1258*	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q1258*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGAAAGAACAAGGCATATA	0.363																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(3772-3774)Caa>Taa		ADAMTS-like 3							142.0	134.0	137.0					15																	84657498		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84657498C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3772C>T	15.37:g.84657498C>T	ENSP00000286744:p.Gln1258*					ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q1258*	p.Q1258*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		22	3996	+			1258			Ig-like C2-type 2.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.3772C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	43	10.515751	0.99419	.	.	ENSG00000156218	ENST00000286744	.	.	.	4.83	3.91	0.45181	.	0.643435	0.11913	N	0.517428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.9304	0.41519	0.1463:0.5705:0.2832:0.0	.	.	.	.	X	1258	.	ENSP00000286744:Q1258X	Q	+	1	0	ADAMTSL3	82448502	0.704000	0.27836	0.866000	0.34008	0.987000	0.75469	1.032000	0.30178	1.149000	0.42402	0.655000	0.94253	CAA		0.363	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		7	58	0	0	0	1	0	7	58				
CHIT1	1118	broad.mit.edu	37	1	203188359	203188359	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203188359C>T	ENST00000367229.1	-	9	1048	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	CHIT1_ENST00000535569.1_Silent_p.E329E|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.E319E	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	338					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTTTGAAGCTCTCCACATCAT	0.547																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(1012-1014)gaG>gaA		chitinase 1 (chitotriosidase)							128.0	118.0	122.0					1																	203188359		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188359C>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1014G>A	1.37:g.203188359C>T						CHIT1_ENST00000535569.1_Silent_p.E329E|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.E319E	p.E338E	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			9	1048	-			338					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.1014G>A	CCDS1436.1																																																																																				0.547	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		31	84	0	0	0	1	0	31	84				
TYW1	55253	broad.mit.edu	37	7	66532272	66532272	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532272T>C	ENST00000359626.5	+	10	1320	c.1156T>C	c.(1156-1158)Tcc>Ccc	p.S386P		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	386					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTTGTCATAGTCCATGCTCCG	0.418																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.e10-1		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							146.0	129.0	134.0					7																	66532272		2203	4300	6503	SO:0001630	splice_region_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66532272T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1156-1T>C	7.37:g.66532272T>C							p.S386_splice	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			10	1320	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	386					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Splice_Site	SNP	ENST00000359626.5	37	c.1155_splice	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	T	1.947	-0.442284	0.04604	.	.	ENSG00000198874	ENST00000359626	T	0.21031	2.03	4.36	3.15	0.36227	.	0.000000	0.64402	U	0.000001	T	0.41282	0.1152	M	0.88906	2.99	0.53005	D	0.999968	B	0.29590	0.25	P	0.45232	0.474	T	0.32955	-0.9887	10	0.72032	D	0.01	.	9.0398	0.36311	0.0:0.0:0.1866:0.8133	.	386	Q9NV66	TYW1_HUMAN	P	386	ENSP00000352645:S386P	ENSP00000352645:S386P	S	+	1	0	TYW1	66169707	1.000000	0.71417	0.733000	0.30861	0.693000	0.40251	6.579000	0.74036	0.497000	0.27926	0.416000	0.27883	TCC		0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264	Missense_Mutation	76	52	0	0	0	1	0	76	52				
CIZ1	25792	broad.mit.edu	37	9	130941595	130941595	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130941595G>T	ENST00000393608.1	-	8	1093	c.891C>A	c.(889-891)gaC>gaA	p.D297E	CIZ1_ENST00000372938.5_Missense_Mutation_p.D297E|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372954.1_Missense_Mutation_p.D273E|CIZ1_ENST00000541172.1_Missense_Mutation_p.D196E|CIZ1_ENST00000325721.8_Missense_Mutation_p.D268E|CIZ1_ENST00000372948.3_Missense_Mutation_p.D297E|CIZ1_ENST00000538431.1_Missense_Mutation_p.D297E|CIZ1_ENST00000277465.4_Missense_Mutation_p.D297E|CIZ1_ENST00000357558.5_Missense_Mutation_p.D297E	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	297	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGGCAGCAGGTCTGGTGTCT	0.627																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(889-891)gaC>gaA		CDKN1A interacting zinc finger protein 1							89.0	85.0	86.0					9																	130941595		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130941595G>T	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.891C>A	9.37:g.130941595G>T	ENSP00000377232:p.Asp297Glu					CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.D297E|CIZ1_ENST00000541172.1_Missense_Mutation_p.D196E|CIZ1_ENST00000372938.5_Missense_Mutation_p.D297E|CIZ1_ENST00000277465.4_Missense_Mutation_p.D297E|CIZ1_ENST00000357558.5_Missense_Mutation_p.D297E|CIZ1_ENST00000325721.8_Missense_Mutation_p.D268E|CIZ1_ENST00000372948.3_Missense_Mutation_p.D297E|CIZ1_ENST00000372954.1_Missense_Mutation_p.D273E	p.D297E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			8	1138	-			297			Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.891C>A	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	7.324	0.617522	0.14129	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.66;1.64;1.78;1.66;2.09;1.78;1.46;1.66;2.25	4.44	-0.741	0.11112	.	0.391097	0.22044	N	0.065408	T	0.09598	0.0236	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.13145	0.0;0.002;0.001;0.004;0.004;0.007;0.0;0.002	B;B;B;B;B;B;B;B	0.11329	0.001;0.003;0.001;0.004;0.006;0.004;0.001;0.003	T	0.17623	-1.0363	10	0.20519	T	0.43	-12.8228	1.732	0.02934	0.142:0.4546:0.1409:0.2624	.	297;292;297;297;273;297;268;297	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	E	273;297;297;297;268;264;196;297;273;297;297;219	ENSP00000362045:D273E;ENSP00000377232:D297E;ENSP00000439244:D297E;ENSP00000350169:D297E;ENSP00000320374:D268E;ENSP00000445057:D196E;ENSP00000277465:D297E;ENSP00000362039:D297E;ENSP00000362029:D297E;ENSP00000398011:D219E	ENSP00000277465:D297E	D	-	3	2	CIZ1	129981416	0.000000	0.05858	0.189000	0.23252	0.877000	0.50540	-0.833000	0.04396	-0.123000	0.11745	-0.311000	0.09066	GAC		0.627	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		34	47	1	0	1.836e-18	1	2.39396e-18	34	47				
DNAH8	1769	broad.mit.edu	37	6	38980372	38980372	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38980372G>T	ENST00000359357.3	+	89	13276	c.13022G>T	c.(13021-13023)aGg>aTg	p.R4341M	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4305M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4341					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAAGGGAGGCCTAATGTG	0.423																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(13021-13023)aGg>aTg		dynein, axonemal, heavy chain 8							244.0	237.0	239.0					6																	38980372		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38980372G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13022G>T	6.37:g.38980372G>T	ENSP00000352312:p.Arg4341Met					DNAH8_ENST00000441566.1_Missense_Mutation_p.R4305M	p.R4341M							89	13276	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.13022G>T		.	.	.	.	.	.	.	.	.	.	G	26.9	4.781655	0.90282	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08896	3.04;3.04;3.04	5.92	5.92	0.95590	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00862	-1.1536	10	0.41790	T	0.15	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	4341	Q96JB1	DYH8_HUMAN	M	4546;4341;4305	ENSP00000333363:R4546M;ENSP00000352312:R4341M;ENSP00000402294:R4305M	ENSP00000333363:R4546M	R	+	2	0	DNAH8	39088350	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.830000	0.99415	2.822000	0.97130	0.650000	0.86243	AGG		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		90	135	1	0	4.04825e-61	1	5.47928e-61	90	135				
ZNF668	79759	broad.mit.edu	37	16	31075764	31075764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075764G>A	ENST00000538906.1	-	2	801	c.17C>T	c.(16-18)gCa>gTa	p.A6V	ZNF668_ENST00000300849.4_Missense_Mutation_p.A6V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A29V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A6V|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.A29V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A6V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGGGCCTCTGCAGCCTCCAC	0.612																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(16-18)gCa>gTa		zinc finger protein 668							23.0	30.0	28.0					16																	31075764		2170	4258	6428	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075764G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.17C>T	16.37:g.31075764G>A	ENSP00000440149:p.Ala6Val					ZNF668_ENST00000539836.3_Missense_Mutation_p.A29V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A6V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A29V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A6V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A6V	p.A6V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	801	-			6					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.17C>T	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	6.780	0.512933	0.12944	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000414399;ENST00000442862;ENST00000417935;ENST00000426488	T;T;T;T;T;T;T;T	0.46451	3.22;3.23;3.23;3.23;3.23;0.87;3.15;0.94	5.19	0.884	0.19182	.	0.653815	0.13582	N	0.377251	T	0.14184	0.0343	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13980	-1.0489	10	0.48119	T	0.1	-0.0704	0.5669	0.00689	0.2381:0.1433:0.3485:0.27	.	6	Q96K58	ZN668_HUMAN	V	29;6;6;6;6;6;6;6;6	ENSP00000442573:A29V;ENSP00000441349:A6V;ENSP00000440149:A6V;ENSP00000378434:A6V;ENSP00000300849:A6V;ENSP00000412340:A6V;ENSP00000416853:A6V;ENSP00000390671:A6V	ENSP00000300849:A6V	A	-	2	0	ZNF668	30983265	0.017000	0.18338	0.035000	0.18076	0.907000	0.53573	1.017000	0.29989	0.763000	0.33175	-0.304000	0.09214	GCA		0.612	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		24	24	0	0	0	1	0	24	24				
GLYAT	10249	broad.mit.edu	37	11	58477642	58477642	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58477642C>T	ENST00000344743.3	-	6	630		c.e6-1		GLYAT_ENST00000529732.1_Splice_Site|GLYAT_ENST00000278400.3_3'UTR	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTCTTGGTTGCTATGGAGGGT	0.393																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.e6-1		glycine-N-acyltransferase	Glycine(DB00145)						42.0	42.0	42.0					11																	58477642		2201	4295	6496	SO:0001630	splice_region_variant	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58477642C>T	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.489-1G>A	11.37:g.58477642C>T						GLYAT_ENST00000278400.3_3'UTR|GLYAT_ENST00000529732.1_Splice_Site		NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			6	630	-		Breast(21;0.0044)|all_epithelial(135;0.0157)						O14833|Q96QK7	Splice_Site	SNP	ENST00000344743.3	37		CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989370	0.35131	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4602	0.75349	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLYAT	58234218	0.818000	0.29161	0.411000	0.26484	0.537000	0.34900	2.075000	0.41538	2.720000	0.93068	0.655000	0.94253	.		0.393	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1		Intron	7	54	0	0	0	1	0	7	54				
MROH6	642475	broad.mit.edu	37	8	144652165	144652165	+	Missense_Mutation	SNP	C	C	T	rs371404243		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144652165C>T	ENST00000398882.3	-	7	1370	c.1114G>A	c.(1114-1116)Gcg>Acg	p.A372T	MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000533679.1_5'Flank|MROH6_ENST00000524906.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	372	Leu-rich.																GGGTCGTCCGCGCTGCGAAGC	0.632																																						ENST00000398882.3																			0											c.(1114-1116)Gcg>Acg		maestro heat-like repeat family member 6			THR/ALA	1,4205		0,1,2102	46.0	59.0	54.0		1114	-9.6	0.0	8		54	1,8417		0,1,4208	no	missense	C8orf73	NM_001100878.1	58	0,2,6310	TT,TC,CC		0.0119,0.0238,0.0158	benign	372/720	144652165	2,12622	2103	4209	6312	SO:0001583	missense	642475							g.chr8:144652165C>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1114G>A	8.37:g.144652165C>T	ENSP00000381857:p.Ala372Thr						p.A372T	NM_001100878.1	NP_001094348.1					7	1370	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1114G>A	CCDS47928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.250|9.250	1.040433|1.040433	0.19669|0.19669	2.38E-4|2.38E-4	1.19E-4|1.19E-4	ENSG00000204839|ENSG00000204839	ENST00000398882|ENST00000529971	T|T	0.43294|0.32272	0.95|1.46	5.23|5.23	-9.57|-9.57	0.00562|0.00562	Armadillo-like helical (1);Armadillo-type fold (1);|.	1.052770|.	0.07484|.	N|.	0.904504|.	T|T	0.14184|0.14184	0.0343|0.0343	N|N	0.21448|0.21448	0.665|0.665	0.34432|0.34432	D|D	0.698638|0.698638	B|B	0.12013|0.11235	0.005|0.004	B|B	0.10450|0.08055	0.005|0.003	T|T	0.21075|0.21075	-1.0256|-1.0256	10|9	0.15066|0.72032	T|D	0.55|0.01	-1.8303|-1.8303	4.9007|4.9007	0.13773|0.13773	0.0872:0.13:0.4942:0.2886|0.0872:0.13:0.4942:0.2886	.|.	372|384	A6NGR9|E9PPP7	CH073_HUMAN|.	T|H	372|384	ENSP00000381857:A372T|ENSP00000436959:R384H	ENSP00000381857:A372T|ENSP00000436959:R384H	A|R	-|-	1|2	0|0	C8orf73|C8orf73	144723308|144723308	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.224000|0.224000	0.24922|0.24922	-4.247000|-4.247000	0.00266|0.00266	-0.958000|-0.958000	0.03622|0.03622	0.550000|0.550000	0.68814|0.68814	GCG|CGC		0.632	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		14	38	0	0	0	1	0	14	38				
S100A9	6280	broad.mit.edu	37	1	153330827	153330827	+	Missense_Mutation	SNP	C	C	A	rs376703853		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153330827C>A	ENST00000368738.3	+	2	111	c.68C>A	c.(67-69)tCt>tAt	p.S23Y		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAATACTCTGTGAAGCTG	0.493																																						ENST00000368738.3																			0				breast(1)|endometrium(1)|large_intestine(2)	4						c.(67-69)tCt>tAt		S100 calcium binding protein A9							102.0	92.0	96.0					1																	153330827		2203	4300	6503	SO:0001583	missense	6280				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity	g.chr1:153330827C>A	BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.68C>A	1.37:g.153330827C>A	ENSP00000357727:p.Ser23Tyr						p.S23Y	NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	111	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		23			EF-hand 1.		D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Missense_Mutation	SNP	ENST00000368738.3	37	c.68C>A	CCDS1036.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464463	0.43736	.	.	ENSG00000163220	ENST00000368738	T	0.25912	1.77	4.45	4.45	0.53987	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.067471	0.64402	D	0.000012	T	0.52917	0.1764	M	0.93594	3.435	0.41692	D	0.989358	D	0.89917	1.0	D	0.91635	0.999	T	0.64824	-0.6316	10	0.87932	D	0	.	12.7697	0.57412	0.0:1.0:0.0:0.0	.	23	P06702	S10A9_HUMAN	Y	23	ENSP00000357727:S23Y	ENSP00000357727:S23Y	S	+	2	0	S100A9	151597451	0.998000	0.40836	0.945000	0.38365	0.118000	0.20060	5.118000	0.64673	2.463000	0.83235	0.462000	0.41574	TCT		0.493	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965		18	31	1	0	1.67942e-08	1	2.01326e-08	18	31				
FLT1	2321	broad.mit.edu	37	13	28964134	28964134	+	Missense_Mutation	SNP	T	T	A	rs553955549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28964134T>A	ENST00000282397.4	-	13	2019	c.1768A>T	c.(1768-1770)Att>Ttt	p.I590F	FLT1_ENST00000541932.1_Missense_Mutation_p.I590F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	590	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGCAGTAAAATCCAAGTAACG	0.393																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1768-1770)Att>Ttt		fms-related tyrosine kinase 1	Sunitinib(DB01268)						228.0	200.0	209.0					13																	28964134		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28964134T>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1768A>T	13.37:g.28964134T>A	ENSP00000282397:p.Ile590Phe					FLT1_ENST00000541932.1_Missense_Mutation_p.I590F	p.I590F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	13	2019	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	590			Ig-like C2-type 6.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1768A>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717307	0.30413	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.65178	-0.14;-0.14	6.16	2.32	0.28847	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.481200	0.23750	N	0.044923	T	0.64080	0.2566	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.70487	0.969;0.969;0.959	T	0.56001	-0.8051	10	0.21014	T	0.42	.	8.5991	0.33734	0.0:0.0625:0.2449:0.6926	.	590;590;590	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	F	590	ENSP00000282397:I590F;ENSP00000437631:I590F	ENSP00000282397:I590F	I	-	1	0	FLT1	27862134	0.999000	0.42202	0.941000	0.38009	0.815000	0.46073	0.273000	0.18662	0.177000	0.19895	0.528000	0.53228	ATT		0.393	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			45	60	0	0	0	1	0	45	60				
SARS	6301	broad.mit.edu	37	1	109778673	109778673	+	Silent	SNP	A	A	T	rs368562236		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109778673A>T	ENST00000234677.2	+	8	1119	c.1044A>T	c.(1042-1044)gcA>gcT	p.A348A	SARS_ENST00000369923.4_Silent_p.A348A	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	348					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TTACCACCGCAGAGGAGTTCT	0.493																																						ENST00000369923.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(1042-1044)gcA>gcT		seryl-tRNA synthetase	L-Serine(DB00133)						108.0	101.0	104.0					1																	109778673		2203	4300	6503	SO:0001819	synonymous_variant	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109778673A>T	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1044A>T	1.37:g.109778673A>T						SARS_ENST00000234677.2_Silent_p.A348A	p.A348A			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	8	1055	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	348					B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	ENST00000234677.2	37	c.1044A>T	CCDS795.1																																																																																				0.493	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		38	68	0	0	0	1	0	38	68				
FAM129A	116496	broad.mit.edu	37	1	184764288	184764288	+	Silent	SNP	G	G	A	rs150744246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184764288G>A	ENST00000367511.3	-	14	2803	c.2610C>T	c.(2608-2610)agC>agT	p.S870S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	870					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTGGGCCGCGCTGCTTTGCC	0.577																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2608-2610)agC>agT		family with sequence similarity 129, member A		G		1,4405	2.1+/-5.4	0,1,2202	136.0	114.0	121.0		2610	1.9	0.0	1	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous	FAM129A	NM_052966.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		870/929	184764288	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764288G>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2610C>T	1.37:g.184764288G>A						FAM129A_ENST00000487074.1_5'UTR	p.S870S	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	2803	-			870					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.2610C>T	CCDS1364.1																																																																																				0.577	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			53	59	0	0	0	1	0	53	59				
TEP1	7011	broad.mit.edu	37	14	20871901	20871901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20871901C>T	ENST00000262715.5	-	6	1215	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	392	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGTGGCCGGCGGGGGTGTCT	0.627																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1174-1176)cGc>cAc		telomerase-associated protein 1							57.0	69.0	65.0					14																	20871901		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871901C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1175G>A	14.37:g.20871901C>T	ENSP00000262715:p.Arg392His					TEP1_ENST00000556935.1_Intron	p.R392H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1215	-	all_cancers(95;0.00123)	all_lung(585;0.235)	392			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1175G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.939881	0.34189	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.19250	2.16	5.54	-2.45	0.06481	TROVE (2);	0.558259	0.18672	N	0.134420	T	0.19446	0.0467	M	0.74258	2.255	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.19811	-1.0294	10	0.51188	T	0.08	-0.5193	5.7588	0.18188	0.0:0.4309:0.2237:0.3453	.	392	Q99973	TEP1_HUMAN	H	392	ENSP00000262715:R392H	ENSP00000262715:R392H	R	-	2	0	TEP1	19941741	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.167000	0.03126	-0.499000	0.06623	-0.119000	0.15052	CGC		0.627	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		27	44	0	0	0	1	0	27	44				
TEK	7010	broad.mit.edu	37	9	27192502	27192502	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27192502T>C	ENST00000380036.4	+	11	1947	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	TEK_ENST00000519097.1_Missense_Mutation_p.V355A|TEK_ENST00000406359.4_Missense_Mutation_p.V459A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	502	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AATGAGATTGTTACACTCAAC	0.473																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1504-1506)gTt>gCt		TEK tyrosine kinase, endothelial							102.0	96.0	98.0					9																	27192502		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27192502T>C	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1505T>C	9.37:g.27192502T>C	ENSP00000369375:p.Val502Ala					TEK_ENST00000519097.1_Missense_Mutation_p.V355A|TEK_ENST00000406359.4_Missense_Mutation_p.V459A	p.V502A	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	11	1947	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	502			Fibronectin type-III 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1505T>C	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.848441	0.32699	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.608843	0.13667	N	0.371110	T	0.45677	0.1354	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.20164	0.017;0.016;0.017;0.042	B;B;B;B	0.25759	0.016;0.063;0.016;0.023	T	0.33085	-0.9882	10	0.41790	T	0.15	.	6.5447	0.22400	0.1615:0.0:0.1478:0.6907	.	355;535;459;502	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	A	355;502;459;312	ENSP00000430686:V355A;ENSP00000369375:V502A;ENSP00000383977:V459A;ENSP00000428337:V312A	ENSP00000369375:V502A	V	+	2	0	TEK	27182502	0.959000	0.32827	0.754000	0.31244	0.892000	0.51952	1.373000	0.34272	2.073000	0.62155	0.533000	0.62120	GTT		0.473	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			46	56	0	0	0	1	0	46	56				
TOMM34	10953	broad.mit.edu	37	20	43580603	43580603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580603G>A	ENST00000372813.3	-	4	573	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	141					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGCTTCAGGCGCCACTCAGGC	0.517																																						ENST00000372813.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11						c.(421-423)Cgc>Tgc		translocase of outer mitochondrial membrane 34							88.0	77.0	81.0					20																	43580603		2203	4300	6503	SO:0001583	missense	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43580603G>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.421C>T	20.37:g.43580603G>A	ENSP00000361900:p.Arg141Cys					PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	p.R141C	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN			4	573	-		Myeloproliferative disorder(115;0.0122)	141					Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	c.421C>T	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184680	0.78677	.	.	ENSG00000025772	ENST00000372813	T	0.79653	-1.29	5.28	5.28	0.74379	.	0.055822	0.64402	D	0.000001	D	0.90614	0.7057	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91579	0.5277	10	0.72032	D	0.01	-20.9303	16.8669	0.86032	0.0:0.0:1.0:0.0	.	141	Q15785	TOM34_HUMAN	C	141	ENSP00000361900:R141C	ENSP00000361900:R141C	R	-	1	0	TOMM34	43014017	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.198000	0.58419	2.763000	0.94921	0.650000	0.86243	CGC		0.517	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		14	37	0	0	0	1	0	14	37				
STK19	8859	broad.mit.edu	37	6	31940512	31940512	+	Missense_Mutation	SNP	G	G	T	rs201894431		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940512G>T	ENST00000375333.2	+	3	598	c.545G>T	c.(544-546)aGg>aTg	p.R182M	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'Flank|DXO_ENST00000478221.1_5'Flank|DXO_ENST00000337523.5_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.R182M|STK19_ENST00000463823.1_Intron	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	182					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GTGCCTGACAGGACCGTGGCC	0.647																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(544-546)aGg>aTg		serine/threonine kinase 19							44.0	46.0	45.0					6																	31940512		2203	4300	6503	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31940512G>T	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.545G>T	6.37:g.31940512G>T	ENSP00000364482:p.Arg182Met					STK19_ENST00000463823.1_Intron|STK19_ENST00000375333.2_Missense_Mutation_p.R182M	p.R182M	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			3	711	+			182					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.545G>T	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893748	0.91889	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.32515	1.45;1.45	4.51	4.51	0.55191	.	0.138888	0.46442	D	0.000300	T	0.49423	0.1556	M	0.76170	2.325	0.42457	D	0.992772	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.934;0.997;0.998;0.946;0.999	T	0.54866	-0.8229	10	0.87932	D	0	-20.7371	16.4981	0.84250	0.0:0.0:1.0:0.0	.	139;182;182;182;139	C9IZ87;B4E0M4;P49842-2;P49842;B7ZLI8	.;.;.;STK19_HUMAN;.	M	182	ENSP00000364480:R182M;ENSP00000364482:R182M	ENSP00000364480:R182M	R	+	2	0	STK19	32048491	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	3.701000	0.54793	2.501000	0.84356	0.655000	0.94253	AGG		0.647	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			6	47	1	0	0.00116845	1	0.00124821	6	47				
CLASP1	23332	broad.mit.edu	37	2	122273251	122273251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122273251G>A	ENST00000263710.4	-	7	1023	c.634C>T	c.(634-636)Cca>Tca	p.P212S	CLASP1_ENST00000455322.2_Missense_Mutation_p.P212S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P212S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P212S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P212S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	212					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CGGGACTGTGGCAATCCTTTT	0.423																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(634-636)Cca>Tca		cytoplasmic linker associated protein 1							133.0	120.0	124.0					2																	122273251		1903	4113	6016	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122273251G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.634C>T	2.37:g.122273251G>A	ENSP00000263710:p.Pro212Ser					CLASP1_ENST00000397587.3_Missense_Mutation_p.P212S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P212S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P212S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P212S	p.P212S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			7	1023	-	Renal(3;0.0496)		212					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.634C>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.896022	0.91962	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.67698	-0.28;2.11;2.11;2.08;2.11	5.51	5.51	0.81932	Armadillo-type fold (1);	0.057461	0.64402	D	0.000001	T	0.78960	0.4366	M	0.73217	2.22	0.80722	D	1	P;D;D;D	0.56968	0.956;0.973;0.978;0.963	P;P;P;P	0.57620	0.715;0.73;0.824;0.643	T	0.80926	-0.1164	10	0.87932	D	0	.	18.5463	0.91047	0.0:0.0:1.0:0.0	.	212;212;212;212	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	S	212	ENSP00000263710:P212S;ENSP00000389372:P212S;ENSP00000380717:P212S;ENSP00000441625:P212S;ENSP00000386442:P212S	ENSP00000263710:P212S	P	-	1	0	CLASP1	121989721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.344000	0.90055	2.738000	0.93877	0.655000	0.94253	CCA		0.423	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		3	25	0	0	0	1	0	3	25				
NPR3	4883	broad.mit.edu	37	5	32738972	32738972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32738972G>T	ENST00000265074.8	+	3	1238	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	NPR3_ENST00000434067.2_Missense_Mutation_p.D83Y|NPR3_ENST00000415167.2_Missense_Mutation_p.D299Y|NPR3_ENST00000415685.2_Missense_Mutation_p.D83Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	299					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCCATAGGAGATGGCTCATG	0.458																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(895-897)Gat>Tat		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						98.0	94.0	95.0					5																	32738972		1873	4102	5975	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32738972G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.895G>T	5.37:g.32738972G>T	ENSP00000265074:p.Asp299Tyr					NPR3_ENST00000434067.2_Missense_Mutation_p.D83Y|NPR3_ENST00000415167.2_Missense_Mutation_p.D299Y|NPR3_ENST00000415685.2_Missense_Mutation_p.D83Y	p.D299Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			3	1238	+			299					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.895G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244388	0.59103	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;1.85;1.85	6.04	6.04	0.98038	Extracellular ligand-binding receptor (1);	0.195071	0.53938	D	0.000041	T	0.77116	0.4083	L	0.41710	1.295	0.49130	D	0.999753	D;D;D;D	0.76494	0.995;0.994;0.999;0.999	P;P;D;D	0.63877	0.816;0.762;0.919;0.919	T	0.77472	-0.2575	10	0.59425	D	0.04	-13.7284	7.9397	0.29950	0.1847:0.0:0.8153:0.0	.	83;83;299;299	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	Y	76;83;83;299;299	ENSP00000425325:D76Y;ENSP00000388408:D83Y;ENSP00000402490:D83Y;ENSP00000265074:D299Y;ENSP00000398028:D299Y	ENSP00000265074:D299Y	D	+	1	0	NPR3	32774729	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.369000	0.59511	2.873000	0.98535	0.561000	0.74099	GAT		0.458	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	59	1	0	0.00448238	1	0.00472561	8	59				
USP35	57558	broad.mit.edu	37	11	77921330	77921330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921330G>A	ENST00000529308.1	+	10	2690	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	USP35_ENST00000526425.1_Missense_Mutation_p.R541H|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.R396H|USP35_ENST00000530267.1_Missense_Mutation_p.R378H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	810	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACACTGCTGCGCTTCTCTTTC	0.642																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2428-2430)cGc>cAc		ubiquitin specific peptidase 35							90.0	100.0	97.0					11																	77921330		2163	4249	6412	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921330G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2429G>A	11.37:g.77921330G>A	ENSP00000431876:p.Arg810His					USP35_ENST00000526425.1_Missense_Mutation_p.R541H|USP35_ENST00000441408.2_Missense_Mutation_p.R396H|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.R378H	p.R810H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2690	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		810						Missense_Mutation	SNP	ENST00000529308.1	37	c.2429G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865035	0.91511	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.35	4.35	0.52113	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000029	T	0.61751	0.2372	M	0.86573	2.825	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71237	-0.4652	10	0.87932	D	0	-33.339	17.0748	0.86583	0.0:0.0:1.0:0.0	.	810;396	Q9P2H5;E7EWV7	UBP35_HUMAN;.	H	378;810;396;541	ENSP00000435468:R378H;ENSP00000431876:R810H;ENSP00000400825:R396H;ENSP00000434942:R541H	ENSP00000400825:R396H	R	+	2	0	USP35	77598978	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.590000	0.98238	2.257000	0.74773	0.436000	0.28706	CGC		0.642	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		49	51	0	0	0	1	0	49	51				
POP1	10940	broad.mit.edu	37	8	99168368	99168368	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99168368G>A	ENST00000401707.2	+	15	2229	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	POP1_ENST00000349693.3_Silent_p.E716E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	716					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGACTGGGAGTCAAGAGTCC	0.502																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2146-2148)gaG>gaA		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							107.0	99.0	102.0					8																	99168368		2203	4300	6503	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99168368G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2148G>A	8.37:g.99168368G>A						POP1_ENST00000349693.3_Silent_p.E716E	p.E716E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		15	2229	+	Breast(36;1.78e-06)		716					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.2148G>A	CCDS6277.1																																																																																				0.502	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		36	62	0	0	0	1	0	36	62				
GDF11	10220	broad.mit.edu	37	12	56142563	56142563	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56142563C>T	ENST00000257868.5	+	2	676	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	213	Poly-Gly.				camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGAGGGGGCGGAGGCCGGC	0.602																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(637-639)ggC>ggT		growth differentiation factor 11							42.0	38.0	39.0					12																	56142563		2203	4300	6503	SO:0001819	synonymous_variant	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56142563C>T	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.639C>T	12.37:g.56142563C>T							p.G213G	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			2	676	+			213			Poly-Gly.		Q9UID1|Q9UID2	Silent	SNP	ENST00000257868.5	37	c.639C>T	CCDS8891.1	.	.	.	.	.	.	.	.	.	.	C	9.641	1.139029	0.21205	.	.	ENSG00000135414	ENST00000546799	.	.	.	4.75	-2.27	0.06846	.	.	.	.	.	T	0.38904	0.1058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30031	-0.9992	4	.	.	.	-10.9708	1.2875	0.02053	0.1442:0.3169:0.1422:0.3967	.	.	.	.	V	186	.	.	A	+	2	0	GDF11	54428830	0.909000	0.30893	0.995000	0.50966	0.998000	0.95712	-0.550000	0.06034	-0.368000	0.08040	0.555000	0.69702	GCG		0.602	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			14	10	0	0	0	1	0	14	10				
MYO18B	84700	broad.mit.edu	37	22	26231348	26231348	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26231348G>T	ENST00000407587.2	+	17	3318	c.3149G>T	c.(3148-3150)aGt>aTt	p.S1050I	MYO18B_ENST00000335473.7_Missense_Mutation_p.S1049I|MYO18B_ENST00000536101.1_Missense_Mutation_p.S1049I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1049	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGGCTCCAGTGACAGTGTG	0.587																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3145-3147)aGt>aTt		myosin XVIIIB							76.0	80.0	79.0					22																	26231348		1972	4173	6145	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26231348G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3149G>T	22.37:g.26231348G>T	ENSP00000386096:p.Ser1050Ile					MYO18B_ENST00000536101.1_Missense_Mutation_p.S1049I|MYO18B_ENST00000407587.2_Missense_Mutation_p.S1050I	p.S1049I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			17	3396	+			1049			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3146G>T		.	.	.	.	.	.	.	.	.	.	G	11.05	1.525208	0.27299	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.74002	-0.8;-0.8;-0.8	4.83	2.76	0.32466	Myosin head, motor domain (2);	0.770129	0.12377	N	0.474278	T	0.80149	0.4570	M	0.82323	2.585	0.09310	N	1	P;D;P;D	0.55800	0.775;0.973;0.911;0.966	B;P;B;P	0.52554	0.389;0.702;0.387;0.576	T	0.69209	-0.5205	10	0.87932	D	0	.	5.8574	0.18727	0.1725:0.1586:0.669:0.0	.	562;1049;1050;1049	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	1049;1049;1050	ENSP00000441229:S1049I;ENSP00000334563:S1049I;ENSP00000386096:S1050I	ENSP00000334563:S1049I	S	+	2	0	MYO18B	24561348	0.877000	0.30153	0.306000	0.25113	0.148000	0.21650	1.281000	0.33214	0.644000	0.30656	0.643000	0.83706	AGT		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	70	1	0	0.00024832	1	0.0002712	4	70				
OR5H1	26341	broad.mit.edu	37	3	97851814	97851814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97851814G>A	ENST00000354565.2	+	1	273	c.273G>A	c.(271-273)atG>atA	p.M91I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGAGTAAGATGATATCTCTCT	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(271-273)atG>atA		olfactory receptor, family 5, subfamily H, member 1							142.0	142.0	142.0					3																	97851814		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851814G>A	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.273G>A	3.37:g.97851814G>A	ENSP00000346575:p.Met91Ile					RP11-343D2.11_ENST00000508964.1_RNA	p.M91I	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	273	+			91						Missense_Mutation	SNP	ENST00000354565.2	37	c.273G>A	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.278110	0.01410	.	.	ENSG00000231192	ENST00000354565	T	0.00545	6.67	3.57	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	0.716976	0.12439	N	0.468880	T	0.00210	0.0006	N	0.02142	-0.665	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31998	-0.9923	10	0.11794	T	0.64	.	2.7888	0.05381	0.3107:0.0:0.3524:0.3369	.	91	A6NKK0	OR5H1_HUMAN	I	91	ENSP00000346575:M91I	ENSP00000346575:M91I	M	+	3	0	OR5H1	99334504	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.379000	0.01067	-0.093000	0.12396	0.195000	0.17529	ATG		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		67	115	0	0	0	1	0	67	115				
ZAN	7455	broad.mit.edu	37	7	100373104	100373104	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100373104G>T	ENST00000348028.3	+	0	6098				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCATGAGAAGGAGGAAGGTG	0.557																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							57.0	56.0	56.0					7																	100373104		2051	4180	6231			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373104G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373104G>T						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6079	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	12.47	1.947513	0.34377	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.18	0.128	0.14733	von Willebrand factor, type D domain (3);	0.869938	0.09596	N	0.780914	T	0.33644	0.0870	.	.	.	0.09310	N	1	B;B;B	0.24258	0.1;0.021;0.026	B;B;B	0.21708	0.021;0.021;0.036	T	0.18304	-1.0341	9	0.21540	T	0.41	.	1.4085	0.02286	0.2166:0.2014:0.4318:0.1503	.	488;1977;1978	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	N	1977;1977;1977;488	ENSP00000445943:K1977N;ENSP00000445091:K1977N;ENSP00000444427:K1977N;ENSP00000441117:K488N	ENSP00000445091:K1977N	K	+	3	2	ZAN	100211040	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	1.026000	0.30103	-0.106000	0.12110	0.393000	0.25936	AAG		0.557	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	23	1	0	0.361761	1	0.363227	10	23				
KMT2A	4297	broad.mit.edu	37	11	118352683	118352683	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118352683G>A	ENST00000389506.5	+	7	3888	c.3888G>A	c.(3886-3888)aaG>aaA	p.K1296K	KMT2A_ENST00000534358.1_Silent_p.K1296K|KMT2A_ENST00000354520.4_Silent_p.K1296K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1296					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGTCAAGCAAGCAGGTCTCCC	0.557																																						ENST00000534358.1																			0											c.(3886-3888)aaG>aaA		lysine (K)-specific methyltransferase 2A							56.0	56.0	56.0					11																	118352683		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118352683G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3888G>A	11.37:g.118352683G>A						KMT2A_ENST00000389506.5_Silent_p.K1296K|KMT2A_ENST00000354520.4_Silent_p.K1296K	p.K1296K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					7	3911	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.3888G>A	CCDS31686.1																																																																																				0.557	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		24	23	0	0	0	1	0	24	23				
DHX29	54505	broad.mit.edu	37	5	54579475	54579475	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54579475T>C	ENST00000251636.5	-	11	1669	c.1521A>G	c.(1519-1521)caA>caG	p.Q507Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	507						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGAATGCTGTTGTTGCTGCT	0.368																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(1519-1521)caA>caG		DEAH (Asp-Glu-Ala-His) box polypeptide 29							158.0	149.0	152.0					5																	54579475		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54579475T>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1521A>G	5.37:g.54579475T>C						RP11-506H20.1_ENST00000506435.1_RNA	p.Q507Q	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			11	1669	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	507					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.1521A>G	CCDS34158.1																																																																																				0.368	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		7	136	0	0	0	1	0	7	136				
COL1A2	1278	broad.mit.edu	37	7	94038679	94038679	+	Missense_Mutation	SNP	G	G	A	rs72656387		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94038679G>A	ENST00000297268.6	+	17	1309	c.838G>A	c.(838-840)Ggt>Agt	p.G280S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	280					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCGCCGGTCCCCGTGG	0.473										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	GRCh37	CM070786	COL1A2	M	rs72656387	c.(838-840)Ggt>Agt		collagen, type I, alpha 2	Collagenase(DB00048)						87.0	102.0	97.0					7																	94038679		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038679G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.838G>A	7.37:g.94038679G>A	ENSP00000297268:p.Gly280Ser	HNSCC(75;0.22)					p.G280S	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1309	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		280					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.838G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312409	0.81358	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99167	-5.51	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.96239	3.79	0.80722	A	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98098	1.0413	9	0.87932	D	0	.	20.2886	0.98538	0.0:0.0:1.0:0.0	.	280	P08123	CO1A2_HUMAN	S	280;281	ENSP00000297268:G280S	ENSP00000297268:G280S	G	+	1	0	COL1A2	93876615	1.000000	0.71417	0.986000	0.45419	0.436000	0.31835	9.727000	0.98787	2.882000	0.98803	0.655000	0.94253	GGT		0.473	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		35	106	0	0	0	1	0	35	106				
FPR3	2359	broad.mit.edu	37	19	52327770	52327770	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52327770T>C	ENST00000339223.4	+	2	948	c.769T>C	c.(769-771)Tat>Cat	p.Y257H	FPR3_ENST00000595991.1_Missense_Mutation_p.Y257H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	257					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTGGTTCCCTTATGAACTAAT	0.423																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(769-771)Tat>Cat		formyl peptide receptor 3							152.0	134.0	140.0					19																	52327770		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327770T>C		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.769T>C	19.37:g.52327770T>C	ENSP00000341821:p.Tyr257His					FPR3_ENST00000595991.1_Missense_Mutation_p.Y257H	p.Y257H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	948	+			257						Missense_Mutation	SNP	ENST00000339223.4	37	c.769T>C	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	8.831	0.939896	0.18281	.	.	ENSG00000187474	ENST00000339223	T	0.74526	-0.85	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.365106	0.25762	N	0.028465	T	0.67581	0.2908	L	0.53729	1.69	0.26803	N	0.969162	B	0.21381	0.055	B	0.32762	0.152	T	0.56823	-0.7915	10	0.28530	T	0.3	.	7.9623	0.30079	0.0:0.0:0.0:1.0	.	257	P25089	FPR3_HUMAN	H	257	ENSP00000341821:Y257H	ENSP00000341821:Y257H	Y	+	1	0	FPR3	57019582	0.980000	0.34600	0.283000	0.24790	0.266000	0.26442	3.156000	0.50708	1.028000	0.39785	0.260000	0.18958	TAT		0.423	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		4	60	0	0	0	1	0	4	60				
KIAA1211L	343990	broad.mit.edu	37	2	99411032	99411032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99411032G>T	ENST00000397899.2	-	10	3183	c.2852C>A	c.(2851-2853)tCt>tAt	p.S951Y		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	951																	CCAAGCTTGAGATTTCTTTCT	0.468																																						ENST00000397899.2																			0											c.(2851-2853)tCt>tAt		KIAA1211-like							124.0	122.0	123.0					2																	99411032		1927	4135	6062	SO:0001583	missense	343990							g.chr2:99411032G>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2852C>A	2.37:g.99411032G>T	ENSP00000380996:p.Ser951Tyr						p.S951Y	NM_207362.2	NP_997245.2					10	3183	-									Missense_Mutation	SNP	ENST00000397899.2	37	c.2852C>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754359	0.49362	.	.	ENSG00000196872	ENST00000397899	T	0.57752	0.38	5.05	5.05	0.67936	.	.	.	.	.	T	0.68238	0.2979	M	0.61703	1.905	0.36292	D	0.856484	D	0.89917	1.0	D	0.70016	0.967	T	0.75775	-0.3199	9	0.87932	D	0	-4.711	13.7857	0.63108	0.0:0.0:1.0:0.0	.	951	Q6NV74	CB055_HUMAN	Y	951	ENSP00000380996:S951Y	ENSP00000380996:S951Y	S	-	2	0	C2orf55	98777464	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.847000	0.69451	2.625000	0.88918	0.643000	0.83706	TCT		0.468	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		8	113	1	0	5.68852e-11	1	7.05143e-11	8	113				
KCTD7	154881	broad.mit.edu	37	7	66104046	66104046	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66104046G>T	ENST00000275532.3	+	4	881	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	KCTD7_ENST00000443322.1_Missense_Mutation_p.G233W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	233					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGTGTCTTTTGGGCCCTGGGA	0.597																																						ENST00000275532.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(697-699)Ggg>Tgg		potassium channel tetramerization domain containing 7							166.0	123.0	137.0					7																	66104046		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66104046G>T	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.697G>T	7.37:g.66104046G>T	ENSP00000275532:p.Gly233Trp					KCTD7_ENST00000443322.1_Missense_Mutation_p.G233W	p.G233W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			4	881	+			233					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.697G>T	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698129	0.88830	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.78595	-1.19;-1.19	5.66	5.66	0.87406	.	.	.	.	.	D	0.88370	0.6418	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89062	0.3463	9	0.87932	D	0	.	18.7265	0.91716	0.0:0.0:1.0:0.0	.	233	Q96MP8	KCTD7_HUMAN	W	233	ENSP00000275532:G233W;ENSP00000411624:G233W	ENSP00000275532:G233W	G	+	1	0	KCTD7	65741481	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.152000	0.94680	2.675000	0.91044	0.655000	0.94253	GGG		0.597	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		6	86	1	0	2.0095e-06	1	2.31757e-06	6	86				
SLC9A3R1	9368	broad.mit.edu	37	17	72758167	72758167	+	Missense_Mutation	SNP	G	G	A	rs41282065	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72758167G>A	ENST00000262613.5	+	2	653	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	SLC9A3R1_ENST00000413388.2_5'UTR	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	153			R -> Q (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065). {ECO:0000269|PubMed:18784102}.		actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						CTTCGGCCTCGGCTCTGTACC	0.627													G|||	4	0.000798722	0.0	0.0	5008	,	,		16030	0.0		0.004	False		,,,				2504	0.0					ENST00000262613.5																			0				large_intestine(4)	4	GRCh37	CM085715	SLC9A3R1	M	rs41282065	c.(457-459)cGg>cAg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1		G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	68.0	60.0	63.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	458	4.4	1.0	17	dbSNP_127	63	39,8561	26.3+/-74.7	0,39,4261	yes	missense	SLC9A3R1	NM_004252.3	43	0,44,6459	AA,AG,GG		0.4535,0.1135,0.3383	probably-damaging	153/359	72758167	44,12962	2203	4300	6503	SO:0001583	missense	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72758167G>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.458G>A	17.37:g.72758167G>A	ENSP00000262613:p.Arg153Gln					SLC9A3R1_ENST00000413388.2_5'UTR	p.R153Q	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN			2	653	+			153		R -> Q (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065).			B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	c.458G>A	CCDS11705.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	34	5.332393	0.95733	0.001135	0.004535	ENSG00000109062	ENST00000262613;ENST00000413388	T	0.57107	0.42	5.41	4.43	0.53597	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	M	0.61703	1.905	0.80722	A	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75836	-0.3177	9	0.72032	D	0.01	-13.1552	14.523	0.67867	0.072:0.0:0.928:0.0	rs41282065	153	O14745	NHRF1_HUMAN	Q	153;103	ENSP00000262613:R153Q	ENSP00000262613:R153Q	R	+	2	0	SLC9A3R1	70269762	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.842000	0.99487	2.538000	0.85594	0.561000	0.74099	CGG		0.627	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			19	29	0	0	0	1	0	19	29				
AFF3	3899	broad.mit.edu	37	2	100210453	100210453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210453G>A	ENST00000409236.2	-	13	1782	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	AFF3_ENST00000409579.1_Missense_Mutation_p.A582V|AFF3_ENST00000356421.2_Missense_Mutation_p.A582V|AFF3_ENST00000317233.4_Missense_Mutation_p.A557V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	557					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCGCTCACCGCCACGGCCAC	0.721																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1669-1671)gCg>gTg		AF4/FMR2 family, member 3							38.0	37.0	37.0					2																	100210453		2200	4297	6497	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210453G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1670C>T	2.37:g.100210453G>A	ENSP00000387207:p.Ala557Val					AFF3_ENST00000409236.1_Missense_Mutation_p.A557V|AFF3_ENST00000409579.1_Missense_Mutation_p.A582V|AFF3_ENST00000356421.2_Missense_Mutation_p.A582V	p.A557V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1905	-			557					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1670C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974266	0.18736	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69926	-0.43;-0.44;-0.44;-0.43	4.6	3.71	0.42584	.	0.710440	0.12217	N	0.488728	T	0.48241	0.1489	N	0.25647	0.755	0.31017	N	0.718522	B;P;B	0.37663	0.031;0.604;0.003	B;B;B	0.28784	0.018;0.094;0.002	T	0.47407	-0.9120	10	0.29301	T	0.29	.	10.7727	0.46332	0.096:0.0:0.904:0.0	.	710;557;582	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	557;582;582;557;557;710;582	ENSP00000317421:A557V;ENSP00000348793:A582V;ENSP00000386834:A582V;ENSP00000387207:A557V	ENSP00000317421:A557V	A	-	2	0	AFF3	99576885	1.000000	0.71417	0.207000	0.23584	0.012000	0.07955	3.715000	0.54897	1.052000	0.40392	0.591000	0.81541	GCG		0.721	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		26	43	0	0	0	1	0	26	43				
PRDM14	63978	broad.mit.edu	37	8	70980514	70980514	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70980514A>G	ENST00000276594.2	-	4	1064	c.863T>C	c.(862-864)gTc>gCc	p.V288A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ACTGGCATTGACCACTTTACC	0.488																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(862-864)gTc>gCc		PR domain containing 14							133.0	119.0	123.0					8																	70980514		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70980514A>G	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.863T>C	8.37:g.70980514A>G	ENSP00000276594:p.Val288Ala						p.V288A	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		4	1064	-	Breast(64;0.193)		288			SET.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.863T>C	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.441257	0.63067	.	.	ENSG00000147596	ENST00000276594	T	0.72167	-0.63	5.8	5.8	0.92144	SET domain (3);	0.067431	0.64402	D	0.000017	T	0.81235	0.4780	M	0.89287	3.02	0.54753	D	0.999982	P	0.47253	0.892	P	0.48488	0.579	D	0.85330	0.1089	10	0.87932	D	0	-10.0896	15.8284	0.78733	1.0:0.0:0.0:0.0	.	288	Q9GZV8	PRD14_HUMAN	A	288	ENSP00000276594:V288A	ENSP00000276594:V288A	V	-	2	0	PRDM14	71143068	1.000000	0.71417	0.988000	0.46212	0.504000	0.33889	8.881000	0.92415	2.209000	0.71365	0.533000	0.62120	GTC		0.488	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			3	67	0	0	0	1	0	3	67				
MTBP	27085	broad.mit.edu	37	8	121467747	121467747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121467747C>T	ENST00000305949.1	+	6	602	c.557C>T	c.(556-558)aCt>aTt	p.T186I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	186					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTTACCTACTGTAGGAGCA	0.318																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(556-558)aCt>aTt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							122.0	125.0	124.0					8																	121467747		2203	4297	6500	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121467747C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.557C>T	8.37:g.121467747C>T	ENSP00000303398:p.Thr186Ile						p.T186I	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	602	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		186					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.557C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	6.057	0.378920	0.11466	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.58	3.74	0.42951	.	0.754501	0.12702	N	0.446275	T	0.27524	0.0676	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16012	-1.0417	9	0.16420	T	0.52	3.0E-4	10.5614	0.45148	0.0:0.7372:0.0:0.2628	.	186	Q96DY7	MTBP_HUMAN	I	186	.	ENSP00000303398:T186I	T	+	2	0	MTBP	121536928	0.000000	0.05858	0.012000	0.15200	0.962000	0.63368	0.191000	0.17076	1.336000	0.45506	0.478000	0.44815	ACT		0.318	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		40	68	0	0	0	1	0	40	68				
MIOS	54468	broad.mit.edu	37	7	7646672	7646672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7646672G>A	ENST00000340080.4	+	13	2998	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	MIOS_ENST00000405785.1_Missense_Mutation_p.M859I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	859						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATGTATGCAGTTGGATA	0.418																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2575-2577)atG>atA		missing oocyte, meiosis regulator, homolog (Drosophila)							92.0	88.0	90.0					7																	7646672		1902	4117	6019	SO:0001583	missense	54468							g.chr7:7646672G>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2577G>A	7.37:g.7646672G>A	ENSP00000339881:p.Met859Ile					MIOS_ENST00000405785.1_Missense_Mutation_p.M859I	p.M859I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			13	2998	+			859					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.2577G>A	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326333	0.60743	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.40476	1.03;1.03	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	N	0.13098	0.295	0.80722	D	1	B;B	0.17268	0.021;0.01	B;B	0.13407	0.009;0.009	T	0.05289	-1.0894	10	0.22109	T	0.4	-20.8709	19.1075	0.93301	0.0:0.0:1.0:0.0	.	859;859	B4DGE7;Q9NXC5	.;MIO_HUMAN	I	859	ENSP00000339881:M859I;ENSP00000384088:M859I	ENSP00000339881:M859I	M	+	3	0	MIOS	7613197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.123000	0.94387	2.814000	0.96858	0.655000	0.94253	ATG		0.418	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		50	53	0	0	0	1	0	50	53				
NOA1	84273	broad.mit.edu	37	4	57832852	57832852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57832852C>T	ENST00000264230.4	-	5	2935	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	566					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										AGGTGATATGCACAGGGAGGA	0.468																																						ENST00000264230.4																			0											c.(1696-1698)gtG>gtA		nitric oxide associated 1							164.0	138.0	147.0					4																	57832852		2203	4300	6503	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57832852C>T	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1698G>A	4.37:g.57832852C>T							p.V566V	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			5	2935	-			566					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.1698G>A	CCDS3510.1																																																																																				0.468	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		27	38	0	0	0	1	0	27	38				
RP2	6102	broad.mit.edu	37	X	46713008	46713008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46713008G>A	ENST00000218340.3	+	2	361	c.200G>A	c.(199-201)tGt>tAt	p.C67Y		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	67	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.		C -> Y (in RP2). {ECO:0000269|PubMed:11992260}.		cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						ATTCAAGACTGTGAGAACTGT	0.433																																						ENST00000218340.3																			0				NS(1)|large_intestine(4)|lung(5)|stomach(1)	11	GRCh37	CM021139	RP2	M		c.(199-201)tGt>tAt		retinitis pigmentosa 2 (X-linked recessive)							109.0	99.0	102.0					X																	46713008		2203	4300	6503	SO:0001583	missense	6102				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	g.chrX:46713008G>A	AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.200G>A	X.37:g.46713008G>A	ENSP00000218340:p.Cys67Tyr						p.C67Y	NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN			2	361	+			67		C -> Y (in RP2).	C-CAP/cofactor C-like.		Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	37	c.200G>A	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110985	0.77210	.	.	ENSG00000102218	ENST00000218340	D	0.99080	-5.4	5.62	5.62	0.85841	CARP motif (1);Tubulin binding cofactor C (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98588	1.0653	10	0.72032	D	0.01	-10.1629	18.6553	0.91450	0.0:0.0:1.0:0.0	.	67	O75695	XRP2_HUMAN	Y	67	ENSP00000218340:C67Y	ENSP00000218340:C67Y	C	+	2	0	RP2	46597952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.325000	0.96381	2.349000	0.79799	0.513000	0.50165	TGT		0.433	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		17	122	0	0	0	1	0	17	122				
CADPS2	93664	broad.mit.edu	37	7	122047655	122047655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122047655C>T	ENST00000449022.2	-	20	2704	c.2685G>A	c.(2683-2685)ccG>ccA	p.P895P	CADPS2_ENST00000334010.7_Silent_p.P893P|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.P889P|CADPS2_ENST00000313070.7_Silent_p.P889P|RP5-1101C3.1_ENST00000591140.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	895	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGAGTCTTGCGGTTGAGCCT	0.428																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2677-2679)ccG>ccA		Ca++-dependent secretion activator 2							53.0	54.0	54.0					7																	122047655		2015	4184	6199	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122047655C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2685G>A	7.37:g.122047655C>T						CADPS2_ENST00000313070.7_Silent_p.P889P|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Silent_p.P895P|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.P889P	p.P893P	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			18	3100	-			895			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2679G>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.590|9.590	1.125997|1.125997	0.20959|0.20959	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000462699	.|.	.|.	.|.	5.14|5.14	1.03|1.03	0.20045|0.20045	.|.	.|.	.|.	.|.	.|.	T|T	0.43567|0.43567	0.1253|0.1253	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20338|0.20338	-1.0278|-1.0278	4|4	.|.	.|.	.|.	-11.7773|-11.7773	2.8125|2.8125	0.05446|0.05446	0.229:0.0747:0.1124:0.5839|0.229:0.0747:0.1124:0.5839	.|.	.|.	.|.	.|.	T|H	538|89	.|.	.|.	A|R	-|-	1|2	0|0	CADPS2|CADPS2	121834891|121834891	0.035000|0.035000	0.19736|0.19736	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	-0.912000|-0.912000	0.04046|0.04046	0.034000|0.034000	0.15491|0.15491	-1.048000|-1.048000	0.02349|0.02349	GCA|CGC		0.428	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		3	21	0	0	0	1	0	3	21				
WDTC1	23038	broad.mit.edu	37	1	27589652	27589652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27589652G>A	ENST00000319394.3	+	3	593	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	WDTC1_ENST00000361771.3_Missense_Mutation_p.A20T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	20					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGAGCGGGGTGCCCTGAGCTT	0.483																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(58-60)Gcc>Acc		WD and tetratricopeptide repeats 1							77.0	73.0	75.0					1																	27589652		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27589652G>A	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.58G>A	1.37:g.27589652G>A	ENSP00000317971:p.Ala20Thr					WDTC1_ENST00000361771.3_Missense_Mutation_p.A20T	p.A20T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	3	593	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	20					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.58G>A		.	.	.	.	.	.	.	.	.	.	G	13.46	2.244340	0.39697	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.61040	0.14;0.14	5.65	5.65	0.86999	.	0.104482	0.64402	D	0.000004	T	0.38081	0.1027	N	0.11560	0.145	0.58432	D	0.999999	B;B	0.25312	0.123;0.047	B;B	0.20577	0.03;0.022	T	0.23583	-1.0184	10	0.13108	T	0.6	.	17.2626	0.87075	0.0:0.0:1.0:0.0	.	20;20	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	T	20	ENSP00000317971:A20T;ENSP00000355317:A20T	ENSP00000317971:A20T	A	+	1	0	WDTC1	27462239	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.831000	0.75324	2.941000	0.99782	0.655000	0.94253	GCC		0.483	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		23	38	0	0	0	1	0	23	38				
PIK3C3	5289	broad.mit.edu	37	18	39618800	39618800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39618800C>T	ENST00000262039.4	+	18	2110	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	PIK3C3_ENST00000587402.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000593098.1_Missense_Mutation_p.T160I|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.T612I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	675	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTGTTAGCCACCAGTACAAAA	0.279										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2023-2025)aCc>aTc		phosphatidylinositol 3-kinase, catalytic subunit type 3							68.0	75.0	73.0					18																	39618800		2203	4299	6502	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39618800C>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2024C>T	18.37:g.39618800C>T	ENSP00000262039:p.Thr675Ile	TSP Lung(28;0.18)				PIK3C3_ENST00000593098.1_Missense_Mutation_p.T160I|PIK3C3_ENST00000587402.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.T612I|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T22I	p.T675I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			18	2110	+			675			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2024C>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890845	0.91889	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.82081	-1.57;-1.57	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93304	0.7866	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.995;1.0;0.996	D	0.93103	0.6510	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	612;612;675	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	I	675;612	ENSP00000262039:T675I;ENSP00000381845:T612I	.	T	+	2	0	PIK3C3	37872798	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.355000	0.79434	2.890000	0.99128	0.650000	0.86243	ACC		0.279	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		28	35	0	0	0	1	0	28	35				
KHDC1	80759	broad.mit.edu	37	6	73952237	73952237	+	Missense_Mutation	SNP	C	C	T	rs373331186		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73952237C>T	ENST00000370384.3	-	3	723	c.223G>A	c.(223-225)Gac>Aac	p.D75N	RP11-257K9.8_ENST00000423730.3_Missense_Mutation_p.D2N|KHDC1_ENST00000257765.5_Missense_Mutation_p.D2N	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	75						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						GTTCCCATGTCCATGCTCTGC	0.527																																						ENST00000423730.3																			0											c.(4-6)Gac>Aac				C	ASN/ASP	1,4013		0,1,2006	102.0	97.0	99.0		4	0.0	0.0	6		99	2,8314		0,2,4156	no	missense	KHDC1	NM_030568.3	23	0,3,6162	TT,TC,CC		0.0241,0.0249,0.0243	possibly-damaging	2/165	73952237	3,12327	2007	4158	6165	SO:0001583	missense	0							g.chr6:73952237C>T		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.223G>A	6.37:g.73952237C>T	ENSP00000359411:p.Asp75Asn					KHDC1_ENST00000257765.5_Missense_Mutation_p.D2N|KHDC1_ENST00000370384.3_Missense_Mutation_p.D75N	p.D2N							2	439	-								Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	c.4G>A	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865784	0.32977	2.49E-4	2.41E-4	ENSG00000256980;ENSG00000135314;ENSG00000135314;ENSG00000135314	ENST00000370385;ENST00000257765;ENST00000370384;ENST00000433730	T	0.34275	1.37	1.93	-0.00388	0.14024	.	.	.	.	.	T	0.09686	0.0238	L	0.36672	1.1	0.09310	N	1	P	0.48694	0.914	B	0.40199	0.322	T	0.11012	-1.0605	9	0.51188	T	0.08	.	2.9931	0.05989	0.0:0.5164:0.295:0.1886	.	75	Q4VXA5	KHDC1_HUMAN	N	2;2;75;2	ENSP00000359411:D75N	ENSP00000257765:D2N	D	-	1	0	RP11-257K9.7;KHDC1	74008958	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.102000	0.10956	-0.030000	0.13804	0.561000	0.74099	GAC		0.527	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		20	30	0	0	0	1	0	20	30				
ALG12	79087	broad.mit.edu	37	22	50304164	50304164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50304164C>T	ENST00000330817.6	-	4	660	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	129					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGCAGAACATGGTGGCCA	0.567																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(385-387)atG>atA		ALG12, alpha-1,6-mannosyltransferase							121.0	104.0	110.0					22																	50304164		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50304164C>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.387G>A	22.37:g.50304164C>T	ENSP00000333813:p.Met129Ile						p.M129I	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	4	660	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	129					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.387G>A	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966108	0.34659	.	.	ENSG00000182858	ENST00000330817	D	0.85484	-1.99	4.7	2.24	0.28232	.	0.457652	0.25711	N	0.028804	T	0.69142	0.3078	N	0.19112	0.55	0.27168	N	0.960998	B	0.06786	0.001	B	0.11329	0.006	T	0.55496	-0.8132	10	0.42905	T	0.14	-12.4738	3.2665	0.06867	0.1322:0.4223:0.341:0.1045	.	129	Q9BV10	ALG12_HUMAN	I	129	ENSP00000333813:M129I	ENSP00000333813:M129I	M	-	3	0	ALG12	48690168	0.992000	0.36948	0.976000	0.42696	0.903000	0.53119	0.506000	0.22658	2.185000	0.69588	0.558000	0.71614	ATG		0.567	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		16	40	0	0	0	1	0	16	40				
HCN2	610	broad.mit.edu	37	19	613983	613983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:613983G>A	ENST00000251287.2	+	7	2010	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	653					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGCCTTCGAGACGGTGGC	0.711																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(1957-1959)Gag>Aag		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							30.0	27.0	28.0					19																	613983		2197	4291	6488	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:613983G>A	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1957G>A	19.37:g.613983G>A	ENSP00000251287:p.Glu653Lys						p.E653K	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	2010	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	653					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1957G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.729414	0.89390	.	.	ENSG00000099822	ENST00000251287	T	0.61510	0.1	3.9	3.9	0.45041	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	.	.	.	.	T	0.56673	0.2001	M	0.64997	1.995	0.80722	D	1	D	0.58620	0.983	B	0.42798	0.398	T	0.65602	-0.6128	9	0.54805	T	0.06	.	15.2994	0.73936	0.0:0.0:1.0:0.0	.	653	Q9UL51	HCN2_HUMAN	K	653	ENSP00000251287:E653K	ENSP00000251287:E653K	E	+	1	0	HCN2	564983	1.000000	0.71417	0.992000	0.48379	0.490000	0.33462	9.076000	0.94009	1.912000	0.55364	0.480000	0.44947	GAG		0.711	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		12	15	0	0	0	1	0	12	15				
ZNF213	7760	broad.mit.edu	37	16	3187371	3187371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3187371G>T	ENST00000396878.3	+	2	565	c.90G>T	c.(88-90)caG>caT	p.Q30H	RP11-473M20.14_ENST00000571449.1_RNA|ZNF213_ENST00000576416.1_Missense_Mutation_p.Q30H|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000574902.1_Missense_Mutation_p.Q30H|ZNF213_ENST00000416391.2_5'Flank|RP11-473M20.14_ENST00000576590.1_RNA|RP11-473M20.14_ENST00000575089.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCTGGGAACAGGAATCTGCCC	0.617																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(88-90)caG>caT		zinc finger protein 213							41.0	43.0	42.0					16																	3187371		2197	4300	6497	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187371G>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.90G>T	16.37:g.3187371G>T	ENSP00000380087:p.Gln30His					ZNF213_ENST00000576416.1_Missense_Mutation_p.Q30H|ZNF213_ENST00000574902.1_Missense_Mutation_p.Q30H	p.Q30H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			2	565	+			30					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.90G>T	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325049	0.24080	.	.	ENSG00000085644	ENST00000396878	T	0.06218	3.33	5.12	2.03	0.26663	.	0.333222	0.21813	N	0.068734	T	0.19248	0.0462	M	0.88979	2.995	0.80722	D	1	D	0.61080	0.989	P	0.57283	0.817	T	0.00752	-1.1581	10	0.72032	D	0.01	.	4.9342	0.13932	0.2562:0.1561:0.5877:0.0	.	30	O14771	ZN213_HUMAN	H	30	ENSP00000380087:Q30H	ENSP00000380087:Q30H	Q	+	3	2	ZNF213	3127372	0.899000	0.30636	0.989000	0.46669	0.985000	0.73830	0.538000	0.23160	0.562000	0.29204	-0.176000	0.13171	CAG		0.617	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		15	54	1	0	1.15088e-07	1	1.35723e-07	15	54				
SUPT6H	6830	broad.mit.edu	37	17	27027530	27027530	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27027530C>T	ENST00000314616.6	+	35	5089	c.4806C>T	c.(4804-4806)caC>caT	p.H1602H	SUPT6H_ENST00000347486.4_Splice_Site_p.H1602H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1602					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTGCTTACCACGTATGTGGCT	0.642																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e35+1		suppressor of Ty 6 homolog (S. cerevisiae)							56.0	58.0	57.0					17																	27027530		2203	4300	6503	SO:0001630	splice_region_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027530C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4806+1C>T	17.37:g.27027530C>T						SUPT6H_ENST00000347486.4_Splice_Site_p.H1602_splice	p.H1602_splice	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			35	5089	+	Lung NSC(42;0.00431)		1602					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Splice_Site	SNP	ENST00000314616.6	37	c.4806_splice	CCDS32596.1																																																																																				0.642	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	Silent	6	76	0	0	0	1	0	6	76				
SOGA3	387104	broad.mit.edu	37	6	127796864	127796864	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127796864C>T	ENST00000525778.1	-	6	3052	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	SOGA3_ENST00000368268.2_Silent_p.P769P|SOGA3_ENST00000465909.2_Silent_p.P769P|SOGA3_ENST00000481848.2_Silent_p.P769P|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Silent_p.P769P			Q5TF21	SOGA3_HUMAN	SOGA family member 3	769					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTTGCGGTGCGGAGGCCGCG	0.731																																						ENST00000556132.1																			0											c.(2305-2307)ccG>ccA		SOGA family member 3							25.0	33.0	30.0					6																	127796864		2101	4200	6301	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796864C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2307G>A	6.37:g.127796864C>T						SOGA3_ENST00000525778.1_Silent_p.P769P|SOGA3_ENST00000368268.2_Silent_p.P769P|SOGA3_ENST00000465909.2_Silent_p.P769P|SOGA3_ENST00000481848.2_Silent_p.P769P	p.P769P	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3171	-			769						Silent	SNP	ENST00000525778.1	37	c.2307G>A	CCDS43505.1																																																																																				0.731	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		37	21	0	0	0	1	0	37	21				
IGFBPL1	347252	broad.mit.edu	37	9	38413250	38413250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38413250G>T	ENST00000377694.1	-	3	693	c.671C>A	c.(670-672)gCc>gAc	p.A224D		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	224	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCAGGCCGTGGCCTCATGGTC	0.473																																						ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(670-672)gCc>gAc		insulin-like growth factor binding protein-like 1							97.0	89.0	92.0					9																	38413250		2203	4300	6503	SO:0001583	missense	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38413250G>T		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.671C>A	9.37:g.38413250G>T	ENSP00000366923:p.Ala224Asp						p.A224D	NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	3	693	-			224			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000377694.1	37	c.671C>A	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459131	0.43634	.	.	ENSG00000137142	ENST00000377694	T	0.67171	-0.25	4.73	2.8	0.32819	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.054740	0.07571	U	0.918554	T	0.51363	0.1670	N	0.03608	-0.345	0.23712	N	0.997049	P	0.43231	0.801	P	0.49012	0.598	T	0.47086	-0.9144	10	0.66056	D	0.02	-2.9677	5.6849	0.17797	0.117:0.2623:0.6207:0.0	.	224	Q8WX77	IBPL1_HUMAN	D	224	ENSP00000366923:A224D	ENSP00000366923:A224D	A	-	2	0	IGFBPL1	38403250	1.000000	0.71417	0.928000	0.36995	0.467000	0.32768	2.882000	0.48546	0.992000	0.38840	0.456000	0.33151	GCC		0.473	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		22	33	1	0	4.26978e-12	1	5.35206e-12	22	33				
CYP7B1	9420	broad.mit.edu	37	8	65528285	65528285	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:65528285C>A	ENST00000310193.3	-	3	986	c.813G>T	c.(811-813)ctG>ctT	p.L271L	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	271					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATATTTCTCCAGGACATCTT	0.353																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(811-813)ctG>ctT		cytochrome P450, family 7, subfamily B, polypeptide 1							187.0	187.0	187.0					8																	65528285		2203	4299	6502	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65528285C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.813G>T	8.37:g.65528285C>A						CYP7B1_ENST00000523954.1_5'UTR	p.L271L	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			3	986	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	271					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.813G>T	CCDS6180.1																																																																																				0.353	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			15	196	1	0	1.02788e-11	1	1.28409e-11	15	196				
KNTC1	9735	broad.mit.edu	37	12	123047224	123047224	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123047224G>A	ENST00000333479.7	+	20	1759	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	KNTC1_ENST00000450485.2_Missense_Mutation_p.A491T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	528					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTTATGGAGCATTTGGACC	0.343																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(1582-1584)Gca>Aca		kinetochore associated 1							61.0	56.0	57.0					12																	123047224		1805	4073	5878	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123047224G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1582G>A	12.37:g.123047224G>A	ENSP00000328236:p.Ala528Thr					KNTC1_ENST00000450485.2_Missense_Mutation_p.A491T	p.A528T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	20	1759	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		528					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.1582G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011175	0.75046	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.24350	1.86;2.42	5.57	5.57	0.84162	.	0.183056	0.49916	D	0.000121	T	0.48314	0.1493	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.946	T	0.11591	-1.0581	10	0.30854	T	0.27	-12.021	19.9093	0.97021	0.0:0.0:1.0:0.0	.	491;528	E7ES84;P50748	.;KNTC1_HUMAN	T	491;528	ENSP00000397992:A491T;ENSP00000328236:A528T	ENSP00000328236:A528T	A	+	1	0	KNTC1	121613177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.091000	0.64505	2.785000	0.95823	0.655000	0.94253	GCA		0.343	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			9	11	0	0	0	1	0	9	11				
RLIM	51132	broad.mit.edu	37	X	73815757	73815757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73815757C>T	ENST00000332687.6	-	2	274	c.56G>A	c.(55-57)cGc>cAc	p.R19H	RLIM_ENST00000349225.2_Missense_Mutation_p.R19H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	19					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGACTTCTGCGCTGTGCTGC	0.378																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(55-57)cGc>cAc		ring finger protein, LIM domain interacting							75.0	65.0	68.0					X																	73815757		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73815757C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.56G>A	X.37:g.73815757C>T	ENSP00000328059:p.Arg19His					RLIM_ENST00000349225.2_Missense_Mutation_p.R19H	p.R19H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			2	274	-			19					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.56G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684397	0.68157	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09817	2.94;2.94	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00632	-1.1635	10	0.45353	T	0.12	0.3155	16.2783	0.82656	0.0:1.0:0.0:0.0	.	19	Q9NVW2	RNF12_HUMAN	H	19	ENSP00000328059:R19H;ENSP00000253571:R19H	ENSP00000328059:R19H	R	-	2	0	RLIM	73732482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.432000	0.80349	2.211000	0.71520	0.506000	0.49869	CGC		0.378	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		21	39	0	0	0	1	0	21	39				
NLRX1	79671	broad.mit.edu	37	11	119051903	119051903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119051903C>A	ENST00000409109.1	+	8	2878	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	NLRX1_ENST00000409991.1_Missense_Mutation_p.P764H|NLRX1_ENST00000409265.4_Missense_Mutation_p.P764H|NLRX1_ENST00000292199.2_Missense_Mutation_p.P764H|NLRX1_ENST00000525863.1_Missense_Mutation_p.P764H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	764	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCCTGGGCCCTGAGGCCTGC	0.607																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2290-2292)cCt>cAt		NLR family member X1							104.0	82.0	90.0					11																	119051903		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119051903C>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2291C>A	11.37:g.119051903C>A	ENSP00000387334:p.Pro764His					NLRX1_ENST00000409991.1_Missense_Mutation_p.P764H|NLRX1_ENST00000525863.1_Missense_Mutation_p.P764H|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Missense_Mutation_p.P764H|NLRX1_ENST00000409265.4_Missense_Mutation_p.P764H	p.P764H			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	8	2878	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	764			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2291C>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	c	18.88	3.717316	0.68844	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.36	4.45	0.53987	.	0.253032	0.41001	D	0.000962	T	0.53932	0.1827	L	0.29908	0.895	0.42390	D	0.992523	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.937	T	0.56269	-0.8007	10	0.51188	T	0.08	.	12.3971	0.55391	0.0:0.9221:0.0:0.0779	.	764;764	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	H	764	ENSP00000386851:P764H;ENSP00000292199:P764H;ENSP00000386858:P764H;ENSP00000387334:P764H;ENSP00000433442:P764H	ENSP00000292199:P764H	P	+	2	0	NLRX1	118557113	0.998000	0.40836	0.900000	0.35374	0.747000	0.42532	4.324000	0.59228	1.508000	0.48769	-0.119000	0.15052	CCT		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		5	55	1	0	0.00116845	1	0.00124821	5	55				
IWS1	55677	broad.mit.edu	37	2	128262702	128262702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262702C>A	ENST00000295321.4	-	3	1036	c.777G>T	c.(775-777)caG>caT	p.Q259H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Missense_Mutation_p.Q266H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	259	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCCTGGTGCCTCG	0.537																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(775-777)caG>caT		IWS1 homolog (S. cerevisiae)							130.0	140.0	136.0					2																	128262702		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262702C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.777G>T	2.37:g.128262702C>A	ENSP00000295321:p.Gln259His					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.Q266H	p.Q259H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1036	-	Colorectal(110;0.1)		259			3 X approximate tandem repeats.|Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.777G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811301	0.32053	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.33438	1.44;1.41	5.36	-1.76	0.08006	.	0.391479	0.25581	N	0.029689	T	0.16342	0.0393	N	0.25485	0.75	0.25024	N	0.991317	P	0.36495	0.556	B	0.34038	0.174	T	0.16541	-1.0399	10	0.38643	T	0.18	-17.357	8.8688	0.35303	0.1007:0.546:0.0:0.3533	.	259	Q96ST2	IWS1_HUMAN	H	259;212;266;264	ENSP00000295321:Q259H;ENSP00000399245:Q266H	ENSP00000295321:Q259H	Q	-	3	2	IWS1	127979172	0.000000	0.05858	0.994000	0.49952	0.938000	0.57974	-2.167000	0.01271	-0.114000	0.11936	0.561000	0.74099	CAG		0.537	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		10	199	1	0	4.68919e-08	1	5.58064e-08	10	199				
CFAP69	79846	broad.mit.edu	37	7	89915682	89915682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89915682C>A	ENST00000389297.4	+	14	1876	c.1625C>A	c.(1624-1626)tCt>tAt	p.S542Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.S542Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.S524Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		542										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CTTATCCTATCTGGCCTTTGT	0.348																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1624-1626)tCt>tAt		chromosome 7 open reading frame 63							111.0	107.0	108.0					7																	89915682		1820	4079	5899	SO:0001583	missense	79846						binding	g.chr7:89915682C>A																												ENST00000389297.4:c.1625C>A	7.37:g.89915682C>A	ENSP00000373948:p.Ser542Tyr					C7orf63_ENST00000497910.1_Missense_Mutation_p.S524Y|C7orf63_ENST00000316089.8_Missense_Mutation_p.S542Y	p.S542Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			14	1876	+			542					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1625C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411838	0.62511	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.76	5.76	0.90799	Armadillo-type fold (1);	0.056427	0.64402	D	0.000001	T	0.65585	0.2705	M	0.80183	2.485	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.68300	-0.5445	10	0.87932	D	0	-16.6944	19.9561	0.97218	0.0:1.0:0.0:0.0	.	524;542;542	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	Y	542;542;524;425;125	ENSP00000373948:S542Y;ENSP00000321753:S542Y;ENSP00000419549:S524Y;ENSP00000392365:S425Y;ENSP00000391571:S125Y	ENSP00000321753:S542Y	S	+	2	0	C7orf63	89753618	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	6.164000	0.71885	2.725000	0.93324	0.591000	0.81541	TCT		0.348	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			26	78	1	0	4.59853e-10	1	5.63411e-10	26	78				
SLCO1B7	338821	broad.mit.edu	37	12	21207494	21207494	+	Missense_Mutation	SNP	G	G	A	rs370734418		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21207494G>A	ENST00000421593.2	+	10	1465	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	LST3_ENST00000381541.3_Missense_Mutation_p.V536I|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V536I|RP11-125O5.2_ENST00000590779.1_5'Flank|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	489						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAAATCTTACGTTTATTTTGT	0.383																																						ENST00000381541.3																			0											c.(1606-1608)Gtt>Att									100.0	109.0	106.0					12																	21207494		2192	4297	6489	SO:0001583	missense	0							g.chr12:21207494G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1465G>A	12.37:g.21207494G>A	ENSP00000394168:p.Val489Ile					SLCO1B7_ENST00000421593.2_Missense_Mutation_p.V489I|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V536I|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	p.V536I							11	1671	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1606G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	3.525	-0.097006	0.07010	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.81078	1.16;1.16;-1.45	2.95	-5.91	0.02269	.	1.271800	0.05332	N	0.528549	T	0.46112	0.1376	N	0.00661	-1.28	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.39121	-0.9629	10	0.24483	T	0.36	.	5.959	0.19289	0.1971:0.0:0.116:0.6869	.	489;536	G3V0H7;F5H094	.;.	I	536;536;489	ENSP00000370952:V536I;ENSP00000452013:V536I;ENSP00000394168:V489I	ENSP00000370952:V536I	V	+	1	0	SLCO1B7;RP11-545J16.1	21098761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.248000	0.02890	-1.000000	0.03438	-0.492000	0.04666	GTT		0.383	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		27	40	0	0	0	1	0	27	40				
KIAA1614	57710	broad.mit.edu	37	1	180907788	180907788	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180907788G>T	ENST00000367588.4	+	6	2914	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K574N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	953	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCAGCAAGGAATCAGAGG	0.572																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2857-2859)aaG>aaT		KIAA1614							74.0	82.0	79.0					1																	180907788		2179	4292	6471	SO:0001583	missense	57710							g.chr1:180907788G>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2859G>T	1.37:g.180907788G>T	ENSP00000356560:p.Lys953Asn					KIAA1614_ENST00000367587.1_Missense_Mutation_p.K574N	p.K953N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			6	2914	+			953			Ser-rich.		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2859G>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	1.013	-0.687238	0.03328	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.23552	2.49;1.9	4.06	3.14	0.36123	.	0.927699	0.09001	N	0.862977	T	0.13713	0.0332	N	0.08118	0	0.19945	N	0.999948	B;B	0.18310	0.001;0.027	B;B	0.14023	0.0;0.01	T	0.20240	-1.0281	9	0.36615	T	0.2	-10.2814	8.0309	0.30465	0.1167:0.0:0.8833:0.0	.	574;953	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	N	953;574	ENSP00000356560:K953N;ENSP00000356559:K574N	ENSP00000356559:K574N	K	+	3	2	KIAA1614	179174411	0.990000	0.36364	0.966000	0.40874	0.027000	0.11550	2.759000	0.47573	0.840000	0.34995	0.561000	0.74099	AAG		0.572	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		27	32	1	0	4.87955e-14	1	6.21198e-14	27	32				
ABCA5	23461	broad.mit.edu	37	17	67286071	67286071	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67286071T>G	ENST00000392676.3	-	13	1778	c.1714A>C	c.(1714-1716)Aca>Cca	p.T572P	ABCA5_ENST00000392677.2_Missense_Mutation_p.T572P|ABCA5_ENST00000588877.1_Missense_Mutation_p.T572P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	572	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCTTCTACTGTCAAAACATCA	0.299																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(1714-1716)Aca>Cca		ATP-binding cassette, sub-family A (ABC1), member 5							104.0	100.0	101.0					17																	67286071		2202	4292	6494	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67286071T>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1714A>C	17.37:g.67286071T>G	ENSP00000376443:p.Thr572Pro					ABCA5_ENST00000588877.1_Missense_Mutation_p.T572P|ABCA5_ENST00000392677.2_Missense_Mutation_p.T572P	p.T572P			Q8WWZ7	ABCA5_HUMAN			13	1778	-	Breast(10;3.72e-11)		572			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1714A>C	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560806	0.86335	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.53423	0.62;0.62	5.27	5.27	0.74061	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000007	T	0.76357	0.3976	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83431	0.0038	9	.	.	.	.	14.8869	0.70575	0.0:0.0:0.0:1.0	.	572;572	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	P	572	ENSP00000376444:T572P;ENSP00000376443:T572P	.	T	-	1	0	ABCA5	64797666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.165000	0.77544	2.005000	0.58758	0.477000	0.44152	ACA		0.299	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		19	41	0	0	0	1	0	19	41				
POLM	27434	broad.mit.edu	37	7	44113546	44113546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113546C>T	ENST00000242248.5	-	9	1251	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	POLM_ENST00000395831.3_Missense_Mutation_p.A304T|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.A347T	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	384					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CTCTCAAAAGCGTCCATGTGG	0.632								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(1150-1152)Gct>Act	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							62.0	65.0	64.0					7																	44113546		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44113546C>T	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1150G>A	7.37:g.44113546C>T	ENSP00000242248:p.Ala384Thr					POLM_ENST00000395831.3_Missense_Mutation_p.A304T|POLM_ENST00000335195.6_Missense_Mutation_p.A347T	p.A384T	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			9	1251	-			384					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.1150G>A	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	4.185	0.032917	0.08101	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.41758	0.99;0.99;0.99	5.65	-0.988	0.10245	DNA-directed DNA polymerase X (1);	0.617910	0.17117	N	0.186403	T	0.20700	0.0498	L	0.43923	1.385	0.09310	N	1	P;B;B	0.42584	0.784;0.246;0.14	B;B;B	0.32533	0.147;0.013;0.018	T	0.21245	-1.0251	10	0.18710	T	0.47	-4.8498	1.5591	0.02591	0.1327:0.4055:0.1294:0.3325	.	304;347;384	Q86WQ9;Q6P5X8;Q9NP87	.;.;DPOLM_HUMAN	T	347;384;304	ENSP00000335141:A347T;ENSP00000242248:A384T;ENSP00000379174:A304T	ENSP00000242248:A384T	A	-	1	0	POLM	44080071	0.422000	0.25473	0.011000	0.14972	0.018000	0.09664	0.710000	0.25748	-0.563000	0.06078	-1.023000	0.02433	GCT		0.632	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		41	34	0	0	0	1	0	41	34				
LLGL2	3993	broad.mit.edu	37	17	73569667	73569667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73569667G>A	ENST00000392550.3	+	21	2948	c.2831G>A	c.(2830-2832)cGc>cAc	p.R944H	LLGL2_ENST00000577200.1_Missense_Mutation_p.R944H|LLGL2_ENST00000167462.5_Missense_Mutation_p.R944H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	944					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAACCACCGCCCTGGTAAC	0.652																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2830-2832)cGc>cAc		lethal giant larvae homolog 2 (Drosophila)							28.0	31.0	30.0					17																	73569667		2200	4293	6493	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569667G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2831G>A	17.37:g.73569667G>A	ENSP00000376333:p.Arg944His					LLGL2_ENST00000167462.5_Missense_Mutation_p.R944H|LLGL2_ENST00000577200.1_Missense_Mutation_p.R944H	p.R944H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		21	2948	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		944					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2831G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432508	0.43224	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.05025	3.51;3.63	5.12	-2.63	0.06133	.	1.338190	0.04967	N	0.463057	T	0.05318	0.0141	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.002;0.004;0.003;0.001	B;B;B;B;B	0.06405	0.002;0.0;0.001;0.001;0.0	T	0.44528	-0.9322	10	0.41790	T	0.15	-0.8888	6.7534	0.23499	0.4423:0.267:0.2907:0.0	.	571;933;933;944;944	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	944;944;933	ENSP00000167462:R944H;ENSP00000376333:R944H	ENSP00000167462:R944H	R	+	2	0	LLGL2	71081262	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	-0.299000	0.08254	-0.296000	0.08947	0.400000	0.26472	CGC		0.652	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		21	31	0	0	0	1	0	21	31				
ITPKC	80271	broad.mit.edu	37	19	41224105	41224105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41224105C>T	ENST00000263370.2	+	1	1098	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	355					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGGCAGCGGCGGCTTCTCCT	0.692																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(1063-1065)ggC>ggT		inositol-trisphosphate 3-kinase C							32.0	39.0	37.0					19																	41224105		2150	4224	6374	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41224105C>T	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1065C>T	19.37:g.41224105C>T							p.G355G	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1098	+			355					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.1065C>T	CCDS12563.1																																																																																				0.692	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		28	37	0	0	0	1	0	28	37				
SPOCK2	9806	broad.mit.edu	37	10	73828040	73828040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73828040G>A	ENST00000373109.2	-	6	938	c.494C>T	c.(493-495)gCg>gTg	p.A165V	SPOCK2_ENST00000536168.1_Missense_Mutation_p.A165V|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.A165V	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	165	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTCAGGCACGCCTGTTGCTC	0.667																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(493-495)gCg>gTg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							21.0	19.0	20.0					10																	73828040		2202	4299	6501	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73828040G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.494C>T	10.37:g.73828040G>A	ENSP00000362201:p.Ala165Val					SPOCK2_ENST00000536168.1_Missense_Mutation_p.A165V|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.A165V	p.A165V	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			6	938	-			165			Kazal-like.		C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.494C>T	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013738	0.75161	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.04603	3.59;3.59	5.18	4.28	0.50868	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.054878	0.64402	N	0.000001	T	0.13970	0.0338	M	0.82923	2.615	0.80722	D	1	D	0.57257	0.979	P	0.51487	0.671	T	0.00749	-1.1582	10	0.62326	D	0.03	.	9.7863	0.40677	0.0784:0.1411:0.7805:0.0	.	165	Q92563	TICN2_HUMAN	V	162;165;165	ENSP00000321108:A165V;ENSP00000439445:A165V	ENSP00000321108:A165V	A	-	2	0	SPOCK2	73498046	1.000000	0.71417	0.997000	0.53966	0.678000	0.39670	4.131000	0.57970	1.168000	0.42723	0.407000	0.27541	GCG		0.667	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			6	7	0	0	0	1	0	6	7				
NCAPH2	29781	broad.mit.edu	37	22	50956563	50956563	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50956563C>T	ENST00000420993.2	+	7	624	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	NCAPH2_ENST00000395701.3_Splice_Site_p.R168C|NCAPH2_ENST00000299821.11_Splice_Site_p.R168C|NCAPH2_ENST00000395698.3_Splice_Site_p.R168C	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCAGCACAGCCGTCAGGGTGA	0.622																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.e7-1		non-SMC condensin II complex, subunit H2							47.0	52.0	50.0					22																	50956563		2203	4300	6503	SO:0001630	splice_region_variant	29781				chromosome condensation	chromosome|nucleus		g.chr22:50956563C>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.501-1C>T	22.37:g.50956563C>T						NCAPH2_ENST00000420993.2_Splice_Site_p.R168_splice|NCAPH2_ENST00000299821.11_Splice_Site_p.R168_splice|NCAPH2_ENST00000395698.3_Splice_Site_p.R168_splice	p.R168_splice			Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	7	596	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	168					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	ENST00000420993.2	37	c.500_splice	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138319	0.37728	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	5.23	0.356	0.16074	.	0.334684	0.31747	N	0.007121	T	0.23410	0.0566	N	0.03016	-0.435	0.38386	D	0.945279	B;B;B;B	0.22909	0.077;0.007;0.009;0.023	B;B;B;B	0.15484	0.013;0.007;0.012;0.003	T	0.04509	-1.0946	9	0.38643	T	0.18	-4.0E-4	8.8022	0.34916	0.0:0.6866:0.0:0.3134	.	168;168;168;168	G3XAG4;Q6IBW4-4;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	C	168;168;168;134;168	.	ENSP00000299821:R168C	R	+	1	0	NCAPH2	49303429	0.999000	0.42202	0.998000	0.56505	0.553000	0.35397	0.371000	0.20450	0.074000	0.16767	0.462000	0.41574	CGT		0.622	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	Missense_Mutation	12	21	0	0	0	1	0	12	21				
POLR1A	25885	broad.mit.edu	37	2	86276317	86276317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86276317C>T	ENST00000263857.6	-	17	2819	c.2441G>A	c.(2440-2442)cGt>cAt	p.R814H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R814H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	814					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCAATGATACGTTGCCTCTT	0.547																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2440-2442)cGt>cAt		polymerase (RNA) I polypeptide A, 194kDa							150.0	154.0	152.0					2																	86276317		1986	4154	6140	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86276317C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2441G>A	2.37:g.86276317C>T	ENSP00000263857:p.Arg814His					POLR1A_ENST00000409681.1_Missense_Mutation_p.R814H	p.R814H			O95602	RPA1_HUMAN			17	2819	-			814					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2441G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296663	0.23650	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67865	-0.29;-0.29	5.42	-5.61	0.02489	.	1.286210	0.05332	N	0.528552	T	0.50616	0.1626	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40534	-0.9558	10	0.51188	T	0.08	0.0227	3.8491	0.08948	0.0955:0.1408:0.2464:0.5174	.	814	O95602	RPA1_HUMAN	H	814	ENSP00000263857:R814H;ENSP00000386300:R814H	ENSP00000263857:R814H	R	-	2	0	POLR1A	86129828	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.159000	0.10056	-0.775000	0.04584	-1.267000	0.01435	CGT		0.547	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		43	81	0	0	0	1	0	43	81				
PRSS12	8492	broad.mit.edu	37	4	119204261	119204261	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119204261C>T	ENST00000296498.3	-	12	2327	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	682	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTGCTGTTGCCATACCTGAG	0.403																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2044-2046)gGc>gAc		protease, serine, 12 (neurotrypsin, motopsin)							112.0	114.0	113.0					4																	119204261		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119204261C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2045G>A	4.37:g.119204261C>T	ENSP00000296498:p.Gly682Asp					PRSS12_ENST00000510903.1_5'UTR	p.G682D	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			12	2327	-			682			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2045G>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561504	0.86335	.	.	ENSG00000164099	ENST00000296498	D	0.92699	-3.09	5.88	5.88	0.94601	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95001	0.8382	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94814	0.7981	10	0.66056	D	0.02	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	682	P56730	NETR_HUMAN	D	682	ENSP00000296498:G682D	ENSP00000296498:G682D	G	-	2	0	PRSS12	119423709	1.000000	0.71417	0.673000	0.29887	0.650000	0.38633	7.294000	0.78760	2.789000	0.95967	0.591000	0.81541	GGC		0.403	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			6	106	0	0	0	1	0	6	106				
PDZD2	23037	broad.mit.edu	37	5	32059379	32059379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32059379C>T	ENST00000438447.1	+	13	2623	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZD2_ENST00000282493.3_Silent_p.C745C			O15018	PDZD2_HUMAN	PDZ domain containing 2	745	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						GTGCCTGCTGCTTGGCTCTGG	0.443																																						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.(2233-2235)tgC>tgT		PDZ domain containing 2							90.0	76.0	80.0					5																	32059379		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32059379C>T	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.2235C>T	5.37:g.32059379C>T						PDZD2_ENST00000282493.3_Silent_p.C745C	p.C745C			O15018	PDZD2_HUMAN			13	2623	+			745			PDZ 4.		Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.2235C>T	CCDS34137.1																																																																																				0.443	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	44	0	0	0	1	0	6	44				
CACNA1H	8912	broad.mit.edu	37	16	1266973	1266973	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1266973C>A	ENST00000348261.5	+	31	5534	c.5286C>A	c.(5284-5286)atC>atA	p.I1762I	CACNA1H_ENST00000565831.1_Silent_p.I1756I|CACNA1H_ENST00000358590.4_Silent_p.I1756I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1762					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGTTTTTTATCTATGCTGCGC	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5284-5286)atC>atA		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						128.0	126.0	126.0					16																	1266973		1972	4151	6123	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1266973C>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5286C>A	16.37:g.1266973C>A						CACNA1H_ENST00000565831.1_Silent_p.I1756I|CACNA1H_ENST00000358590.4_Silent_p.I1756I	p.I1762I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			31	5534	+		Hepatocellular(780;0.00369)	1762					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.5286C>A	CCDS45375.1																																																																																				0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		5	6	1	0	0.0293803	1	0.0301098	5	6				
GTF3C5	9328	broad.mit.edu	37	9	135929816	135929816	+	Missense_Mutation	SNP	C	C	T	rs369612433		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929816C>T	ENST00000372097.5	+	7	1333	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	GTF3C5_ENST00000372108.5_Missense_Mutation_p.P337L|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P328L|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P212L|GTF3C5_ENST00000342018.8_Missense_Mutation_p.P268L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	337					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGTGACTTGCCGGTCAAAGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18717	0.0		0.0	False		,,,				2504	0.0					ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(1009-1011)cCg>cTg		general transcription factor IIIC, polypeptide 5, 63kDa		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	98.0	83.0	88.0		1010,1010	5.7	1.0	9		88	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	GTF3C5	NM_001122823.1,NM_012087.3	98,98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	337/527,337/520	135929816	2,13004	2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135929816C>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1010C>T	9.37:g.135929816C>T	ENSP00000361169:p.Pro337Leu					GTF3C5_ENST00000342018.8_Missense_Mutation_p.P268L|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P328L|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P337L|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P212L	p.P337L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	7	1333	+			337					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.1010C>T	CCDS6958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.194592|4.194592	0.78902|0.78902	0.0|0.0	2.33E-4|2.33E-4	ENSG00000148308|ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697|ENST00000434175;ENST00000435745	T;T;T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79;0.79;0.79|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.047571|.	0.85682|.	D|.	0.000000|.	T|T	0.74801|0.74801	0.3764|0.3764	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.995;1.0|.	P;P;D|.	0.97110|.	0.855;0.742;1.0|.	T|T	0.72740|0.72740	-0.4202|-0.4202	10|5	0.49607|.	T|.	0.09|.	-0.989|-0.989	18.7287|18.7287	0.91726|0.91726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	212;337;337|.	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8|.	.;.;TF3C5_HUMAN|.	L|W	337;328;212;187;337;268;212|109;16	ENSP00000361169:P337L;ENSP00000361171:P328L;ENSP00000361167:P212L;ENSP00000361180:P337L;ENSP00000339530:P268L;ENSP00000393207:P212L|.	ENSP00000339530:P268L|.	P|R	+|+	2|1	0|2	GTF3C5|GTF3C5	134919637|134919637	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.604000|0.604000	0.37047|0.37047	5.751000|5.751000	0.68720|0.68720	2.655000|2.655000	0.90218|0.90218	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.597	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		7	11	0	0	0	1	0	7	11				
FAM135A	57579	broad.mit.edu	37	6	71234659	71234659	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71234659T>C	ENST00000418814.2	+	15	2486	c.1872T>C	c.(1870-1872)gaT>gaC	p.D624D	FAM135A_ENST00000370479.3_Silent_p.D411D|FAM135A_ENST00000361499.3_Silent_p.D428D|FAM135A_ENST00000457062.2_Silent_p.D411D|FAM135A_ENST00000505868.1_Silent_p.D624D|FAM135A_ENST00000505769.1_Silent_p.D428D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	624										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCCAGGACGATAGTGAAATTA	0.398																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1870-1872)gaT>gaC		family with sequence similarity 135, member A							64.0	60.0	61.0					6																	71234659		2203	4299	6502	SO:0001819	synonymous_variant	57579							g.chr6:71234659T>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1872T>C	6.37:g.71234659T>C						FAM135A_ENST00000505868.1_Silent_p.D624D|FAM135A_ENST00000505769.1_Silent_p.D428D|FAM135A_ENST00000457062.2_Silent_p.D411D|FAM135A_ENST00000370479.3_Silent_p.D411D|FAM135A_ENST00000361499.3_Silent_p.D428D	p.D624D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	2486	+			624					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.1872T>C	CCDS55028.1																																																																																				0.398	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		18	39	0	0	0	1	0	18	39				
CBX4	8535	broad.mit.edu	37	17	77808854	77808854	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808854T>C	ENST00000269397.4	-	5	764	c.587A>G	c.(586-588)gAc>gGc	p.D196G	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	196	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCCACTTGTCGGGCGGGTG	0.721											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(586-588)gAc>gGc		chromobox homolog 4							29.0	34.0	32.0					17																	77808854		2196	4292	6488	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808854T>C	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.587A>G	17.37:g.77808854T>C	ENSP00000269397:p.Asp196Gly		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.D196G	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	764	-			196			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.587A>G	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	t	19.24	3.788513	0.70337	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.79	3.79	0.43588	.	0.230887	0.36482	U	0.002570	T	0.47525	0.1450	L	0.46157	1.445	0.80722	D	1	P	0.47409	0.895	P	0.44518	0.452	T	0.40534	-0.9558	9	0.28530	T	0.3	-9.2081	12.543	0.56182	0.0:0.0:0.0:1.0	.	196	O00257	CBX4_HUMAN	G	196	.	ENSP00000269397:D196G	D	-	2	0	CBX4	75423449	1.000000	0.71417	0.998000	0.56505	0.672000	0.39443	7.510000	0.81708	1.368000	0.46115	0.255000	0.18592	GAC		0.721	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		20	28	0	0	0	1	0	20	28				
SLC26A4	5172	broad.mit.edu	37	7	107323797	107323797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107323797G>A	ENST00000265715.3	+	7	1140	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	306					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGAAGTAATTGTGGTAAGTAG	0.338									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46	GRCh37	CI075699	SLC26A4	I		c.(916-918)Gtg>Atg		solute carrier family 26 (anion exchanger), member 4							118.0	121.0	120.0					7																	107323797		2202	4300	6502	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107323797G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.916G>A	7.37:g.107323797G>A	ENSP00000265715:p.Val306Met						p.V306M	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			7	1140	+			306					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.916G>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500108	0.64298	.	.	ENSG00000091137	ENST00000265715	D	0.93659	-3.26	5.25	5.25	0.73442	Sulphate transporter (1);	0.000000	0.64402	D	0.000001	D	0.93229	0.7843	L	0.49126	1.545	0.80722	D	1	P	0.41597	0.756	P	0.46917	0.531	D	0.91615	0.5306	10	0.33141	T	0.24	.	19.3941	0.94598	0.0:0.0:1.0:0.0	.	306	O43511	S26A4_HUMAN	M	306	ENSP00000265715:V306M	ENSP00000265715:V306M	V	+	1	0	SLC26A4	107111033	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.015000	0.76387	2.885000	0.99019	0.655000	0.94253	GTG		0.338	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		35	119	0	0	0	1	0	35	119				
UNC13B	10497	broad.mit.edu	37	9	35375166	35375166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35375166G>T	ENST00000378495.3	+	13	1558	c.1336G>T	c.(1336-1338)Gct>Tct	p.A446S	UNC13B_ENST00000378496.4_Missense_Mutation_p.A446S|UNC13B_ENST00000396787.1_Missense_Mutation_p.A458S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	446					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTGCAATGGCTACACGCAC	0.537																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1336-1338)Gct>Tct		unc-13 homolog B (C. elegans)							240.0	212.0	221.0					9																	35375166		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35375166G>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1336G>T	9.37:g.35375166G>T	ENSP00000367756:p.Ala446Ser					UNC13B_ENST00000396787.1_Missense_Mutation_p.A458S|UNC13B_ENST00000378496.4_Missense_Mutation_p.A446S	p.A446S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		13	1558	+	all_epithelial(49;0.212)		446					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.1336G>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033048	0.93575	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.61859	0.07;0.07;0.07	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.58510	1.815	0.80722	D	1	P;P	0.42908	0.793;0.605	P;B	0.44732	0.459;0.304	T	0.59166	-0.7505	10	0.34782	T	0.22	-13.9534	20.0749	0.97738	0.0:0.0:1.0:0.0	.	446;446	F8W8M9;O14795	.;UN13B_HUMAN	S	458;446;446;33	ENSP00000380006:A458S;ENSP00000367756:A446S;ENSP00000367757:A446S	ENSP00000367756:A446S	A	+	1	0	UNC13B	35365166	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.288000	0.72679	2.759000	0.94783	0.591000	0.81541	GCT		0.537	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		75	129	1	0	6.43283e-47	1	8.69412e-47	75	129				
STAP2	55620	broad.mit.edu	37	19	4325454	4325454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4325454C>A	ENST00000594605.1	-	10	1041	c.918G>T	c.(916-918)caG>caT	p.Q306H	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000600324.1_Missense_Mutation_p.Q306H	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	306	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTCTTCCTGGTTCGGTA	0.612																																						ENST00000600324.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23						c.(916-918)caG>caT		signal transducing adaptor family member 2							104.0	107.0	106.0					19																	4325454		2203	4300	6503	SO:0001583	missense	55620					cytoplasm|nucleus	protein binding	g.chr19:4325454C>A	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.918G>T	19.37:g.4325454C>A	ENSP00000471052:p.Gln306His					STAP2_ENST00000594605.1_Missense_Mutation_p.Q306H|STAP2_ENST00000597593.1_5'UTR	p.Q306H	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	10	985	-		Hepatocellular(1079;0.137)	306			Pro-rich.		A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	c.918G>T	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896825	0.72639	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.77	1.22	0.21188	.	1.624180	0.03802	U	0.264607	T	0.44993	0.1320	L	0.54323	1.7	0.09310	N	1	P;D	0.54207	0.899;0.965	P;P	0.53313	0.568;0.723	T	0.21280	-1.0250	9	0.87932	D	0	-16.4074	3.7058	0.08400	0.1929:0.5984:0.0:0.2087	.	306;306	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	H	306	.	ENSP00000317912:Q306H	Q	-	3	2	STAP2	4276454	0.467000	0.25831	0.113000	0.21522	0.699000	0.40488	0.097000	0.15168	0.450000	0.26774	0.479000	0.44913	CAG		0.612	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		31	83	1	0	4.32679e-17	1	5.60236e-17	31	83				
ARMC8	25852	broad.mit.edu	37	3	137982647	137982647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137982647C>T	ENST00000469044.1	+	13	1472	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	NME9_ENST00000383180.2_Intron|NME9_ENST00000317876.4_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R334W|ARMC8_ENST00000485396.1_Missense_Mutation_p.R328W|ARMC8_ENST00000491704.1_Missense_Mutation_p.R359W|ARMC8_ENST00000481646.1_Missense_Mutation_p.R387W|ARMC8_ENST00000393058.3_Missense_Mutation_p.R391W|ARMC8_ENST00000538260.1_Missense_Mutation_p.R370W|NME9_ENST00000341790.5_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	401										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGGTGCGGTTAGCTGC	0.393																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1201-1203)Cgg>Tgg		armadillo repeat containing 8							183.0	179.0	180.0					3																	137982647		1920	4129	6049	SO:0001583	missense	25852						binding	g.chr3:137982647C>T		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1201C>T	3.37:g.137982647C>T	ENSP00000419413:p.Arg401Trp					NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.R328W|ARMC8_ENST00000393058.3_Missense_Mutation_p.R391W|NME9_ENST00000383180.2_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.R359W|ARMC8_ENST00000481646.1_Missense_Mutation_p.R387W|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.R370W|ARMC8_ENST00000461822.1_Missense_Mutation_p.R334W	p.R401W	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			13	1472	+			401					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1201C>T		.	.	.	.	.	.	.	.	.	.	C	23.2	4.386610	0.82902	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;0.78;0.78;0.78;-1.08;0.89	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88299	0.6399	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;0.999	P;D;P;B;P	0.71656	0.792;0.974;0.851;0.446;0.862	D	0.89466	0.3740	10	0.72032	D	0.01	-3.4257	16.9122	0.86143	0.0:1.0:0.0:0.0	.	328;334;370;401;387	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	W	387;401;359;334;328;370;391;295;258	ENSP00000420333:R387W;ENSP00000419413:R401W;ENSP00000417304:R359W;ENSP00000420706:R334W;ENSP00000417049:R328W;ENSP00000441592:R370W;ENSP00000376778:R391W;ENSP00000417403:R295W	ENSP00000376778:R391W	R	+	1	2	ARMC8	139465337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.590000	0.87494	0.561000	0.74099	CGG		0.393	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		66	84	0	0	0	1	0	66	84				
SNX5	27131	broad.mit.edu	37	20	17929569	17929569	+	Missense_Mutation	SNP	G	G	T	rs200592783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17929569G>T	ENST00000377768.3	-	11	1195	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	SNX5_ENST00000377759.4_Missense_Mutation_p.L295I|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	295	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TAGTATCGGAGGAGCTCTGTT	0.413																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(883-885)Ctc>Atc		sorting nexin 5							95.0	90.0	92.0					20																	17929569		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17929569G>T	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.883C>A	20.37:g.17929569G>T	ENSP00000366998:p.Leu295Ile					SNX5_ENST00000377759.4_Missense_Mutation_p.L295I|SNX5_ENST00000483485.1_5'UTR	p.L295I	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			11	1195	-			295			BAR.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.883C>A	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001308	0.74818	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277	T;T;T	0.29142	1.58;1.58;1.58	5.06	5.06	0.68205	Vps5 C-terminal (1);	0.125473	0.53938	D	0.000046	T	0.57519	0.2059	M	0.88181	2.935	0.58432	D	0.999994	D;D	0.76494	0.998;0.999	D;D	0.73380	0.98;0.98	T	0.60337	-0.7283	10	0.38643	T	0.18	.	10.5157	0.44887	0.1509:0.0:0.8491:0.0	.	316;295	B7Z476;Q9Y5X3	.;SNX5_HUMAN	I	295;295;258	ENSP00000366998:L295I;ENSP00000366988:L295I;ENSP00000404448:L258I	ENSP00000366988:L295I	L	-	1	0	SNX5	17877569	0.998000	0.40836	0.599000	0.28851	0.908000	0.53690	2.638000	0.46562	2.514000	0.84764	0.655000	0.94253	CTC		0.413	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			20	53	1	0	3.62473e-10	1	4.44982e-10	20	53				
HTATSF1	27336	broad.mit.edu	37	X	135593701	135593701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135593701C>A	ENST00000218364.4	+	9	1971	c.1797C>A	c.(1795-1797)aaC>aaA	p.N599K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.N599K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	599	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGAAAACTCCGAATTTG	0.393																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1795-1797)aaC>aaA		HIV-1 Tat specific factor 1							58.0	63.0	61.0					X																	135593701		2203	4296	6499	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593701C>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1797C>A	X.37:g.135593701C>A	ENSP00000218364:p.Asn599Lys					HTATSF1_ENST00000218364.4_Missense_Mutation_p.N599K	p.N599K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2219	+	Acute lymphoblastic leukemia(192;0.000127)		599			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1797C>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.375468	0.00207	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.03831	3.79;3.79	4.64	-1.82	0.07857	.	0.550372	0.16501	N	0.211676	T	0.01387	0.0045	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44726	-0.9309	10	0.02654	T	1	-9.4595	5.9231	0.19094	0.495:0.1536:0.3514:0.0	.	599	O43719	HTSF1_HUMAN	K	599	ENSP00000442699:N599K;ENSP00000218364:N599K	ENSP00000218364:N599K	N	+	3	2	HTATSF1	135421367	0.000000	0.05858	0.002000	0.10522	0.055000	0.15305	-0.455000	0.06762	-0.458000	0.07023	0.523000	0.50628	AAC		0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		36	79	1	0	6.90743e-12	1	8.64953e-12	36	79				
DNM1P46	196968	broad.mit.edu	37	15	100331713	100331713	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100331713T>C	ENST00000341853.1	-	0	2478				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCACAGTACCTCCCTTATTGG	0.562																																						ENST00000341853.1																			0																				31.0	32.0	32.0					15																	100331713		876	1991	2867			0							g.chr15:100331713T>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331713T>C								NR_003260.1						0	2478	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.562	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		8	17	0	0	0	1	0	8	17				
NTN3	4917	broad.mit.edu	37	16	2523469	2523469	+	Missense_Mutation	SNP	G	G	A	rs140362721		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2523469G>A	ENST00000293973.1	+	5	1561	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	453	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGCAGCTACCGCATCAGCCTA	0.617																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(1357-1359)cGc>cAc		netrin 3							112.0	108.0	109.0					16																	2523469		2197	4300	6497	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2523469G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.1358G>A	16.37:g.2523469G>A	ENSP00000293973:p.Arg453His						p.R453H	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			5	1561	+			453			NTR.			Missense_Mutation	SNP	ENST00000293973.1	37	c.1358G>A	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705857	0.30232	.	.	ENSG00000162068	ENST00000293973	T	0.38887	1.11	3.67	2.69	0.31865	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.066455	0.53938	D	0.000048	T	0.45054	0.1323	L	0.47078	1.49	0.43187	D	0.995013	D	0.76494	0.999	P	0.61722	0.893	T	0.35251	-0.9796	10	0.30854	T	0.27	.	4.4742	0.11727	0.3486:0.0:0.6514:0.0	.	453	O00634	NET3_HUMAN	H	453	ENSP00000293973:R453H	ENSP00000293973:R453H	R	+	2	0	NTN3	2463470	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	2.751000	0.47508	1.624000	0.50355	0.306000	0.20318	CGC		0.617	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		38	68	0	0	0	1	0	38	68				
VPS4A	27183	broad.mit.edu	37	16	69356569	69356569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69356569C>A	ENST00000254950.11	+	10	1334	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGGATGTCCCTGGGGACAAA	0.562																																						ENST00000254950.11																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7						c.(1177-1179)cCt>cAt		vacuolar protein sorting 4 homolog A (S. cerevisiae)							116.0	115.0	116.0					16																	69356569		1968	4173	6141	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69356569C>A	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.1178C>A	16.37:g.69356569C>A	ENSP00000254950:p.Pro393His					COG8_ENST00000564419.1_Intron	p.P393H	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN			10	1334	+		Ovarian(137;0.101)	393						Missense_Mutation	SNP	ENST00000254950.11	37	c.1178C>A	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148071	0.94603	.	.	ENSG00000132612	ENST00000254950	D	0.95171	-3.63	5.62	5.62	0.85841	Vps4 oligomerisation, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	H	0.94423	3.535	0.80722	D	1	D	0.57571	0.98	P	0.56343	0.796	D	0.98465	1.0598	10	0.72032	D	0.01	-13.4172	18.4328	0.90632	0.0:1.0:0.0:0.0	.	393	Q9UN37	VPS4A_HUMAN	H	393	ENSP00000254950:P393H	ENSP00000254950:P393H	P	+	2	0	VPS4A	67914070	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.754000	0.85163	2.633000	0.89246	0.655000	0.94253	CCT		0.562	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		9	57	1	0	0.000442599	1	0.00048047	9	57				
CDAN1	146059	broad.mit.edu	37	15	43023821	43023821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023821C>T	ENST00000356231.3	-	11	1759	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	579					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCCTACCTGCTGGCACTAAG	0.577																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(1735-1737)aGc>aAc		codanin 1							47.0	50.0	49.0					15																	43023821		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43023821C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1736G>A	15.37:g.43023821C>T	ENSP00000348564:p.Ser579Asn						p.S579N	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	11	1759	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	579					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1736G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483246	0.84747	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87491	-2.26	5.86	3.97	0.46021	.	0.175019	0.64402	N	0.000005	D	0.88396	0.6425	L	0.54323	1.7	0.45354	D	0.998342	D	0.56035	0.974	P	0.56216	0.794	D	0.85879	0.1421	10	0.24483	T	0.36	.	12.7135	0.57102	0.0:0.8651:0.0:0.1349	.	579	Q8IWY9	CDAN1_HUMAN	N	579;577	ENSP00000348564:S579N	ENSP00000267892:S577N	S	-	2	0	CDAN1	40811113	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.477000	0.60223	1.482000	0.48325	0.655000	0.94253	AGC		0.577	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		28	49	0	0	0	1	0	28	49				
USP20	10868	broad.mit.edu	37	9	132632081	132632081	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132632081C>G	ENST00000315480.4	+	14	1681	c.1523C>G	c.(1522-1524)gCc>gGc	p.A508G	USP20_ENST00000358355.1_Missense_Mutation_p.A508G|USP20_ENST00000372429.3_Missense_Mutation_p.A508G			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	508	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GACAGCTATGCCGCCCAGGGC	0.617																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1522-1524)gCc>gGc		ubiquitin specific peptidase 20							61.0	65.0	64.0					9																	132632081		1923	4111	6034	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132632081C>G	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1523C>G	9.37:g.132632081C>G	ENSP00000313811:p.Ala508Gly					USP20_ENST00000358355.1_Missense_Mutation_p.A508G|USP20_ENST00000372429.3_Missense_Mutation_p.A508G	p.A508G			Q9Y2K6	UBP20_HUMAN			14	1681	+		Ovarian(14;0.00556)	508					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1523C>G	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471895	0.26423	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19394	2.15;2.15;2.15	4.84	3.01	0.34805	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.687312	0.15678	N	0.250032	T	0.15478	0.0373	L	0.33137	0.985	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21109	-1.0255	10	0.26408	T	0.33	.	10.4062	0.44258	0.0:0.8412:0.0:0.1588	.	508	Q9Y2K6	UBP20_HUMAN	G	508	ENSP00000361506:A508G;ENSP00000313811:A508G;ENSP00000351122:A508G	ENSP00000313811:A508G	A	+	2	0	USP20	131671902	0.003000	0.15002	0.004000	0.12327	0.761000	0.43186	1.799000	0.38824	0.765000	0.33221	0.655000	0.94253	GCC		0.617	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			29	52	0	0	0	1	0	29	52				
C12orf56	115749	broad.mit.edu	37	12	64664353	64664353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64664353C>A	ENST00000543942.2	-	12	2352	c.1726G>T	c.(1726-1728)Gct>Tct	p.A576S	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.A416S|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	576										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATATACTCAGCTAGAGTCCTG	0.403																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(1726-1728)Gct>Tct		chromosome 12 open reading frame 56							57.0	51.0	53.0					12																	64664353		1854	4097	5951	SO:0001583	missense	115749							g.chr12:64664353C>A		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1726G>T	12.37:g.64664353C>A	ENSP00000446101:p.Ala576Ser					C12orf56_ENST00000333722.5_Missense_Mutation_p.A416S|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	p.A576S	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	12	2352	-			579						Missense_Mutation	SNP	ENST00000543942.2	37	c.1726G>T		.	.	.	.	.	.	.	.	.	.	C	13.91	2.376753	0.42105	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	5.19	5.19	0.71726	.	0.067113	0.56097	D	0.000030	T	0.66674	0.2813	L	0.53729	1.69	0.33736	D	0.618802	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.994	T	0.72194	-0.4364	8	.	.	.	-10.6843	14.4315	0.67254	0.0:1.0:0.0:0.0	.	416;579	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	S	416;577;579	.	.	A	-	1	0	C12orf56	62950620	0.921000	0.31238	0.923000	0.36655	0.006000	0.05464	3.124000	0.50461	2.873000	0.98535	0.563000	0.77884	GCT		0.403	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		3	22	1	0	0.004672	1	0.0049138	3	22				
ZC2HC1A	51101	broad.mit.edu	37	8	79590894	79590894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:79590894G>T	ENST00000263849.4	+	3	292	c.190G>T	c.(190-192)Gta>Tta	p.V64L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	64							metal ion binding (GO:0046872)										TATTCCAACAGTAAAACCTCT	0.353																																						ENST00000263849.4																			0											c.(190-192)Gta>Tta		zinc finger, C2HC-type containing 1A							110.0	115.0	114.0					8																	79590894		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79590894G>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.190G>T	8.37:g.79590894G>T	ENSP00000263849:p.Val64Leu					ZC2HC1A_ENST00000521176.1_3'UTR	p.V64L	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			3	292	+			64					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.190G>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079263	0.55753	.	.	ENSG00000104427	ENST00000263849	T	0.45276	0.9	5.89	5.89	0.94794	.	0.056295	0.64402	D	0.000001	T	0.35885	0.0947	L	0.35487	1.065	0.80722	D	1	B	0.19706	0.038	B	0.15484	0.013	T	0.08452	-1.0721	9	.	.	.	-19.8687	19.8459	0.96707	0.0:0.0:1.0:0.0	.	64	Q96GY0	F164A_HUMAN	L	64	ENSP00000263849:V64L	.	V	+	1	0	FAM164A	79753449	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.644000	0.67902	2.788000	0.95919	0.585000	0.79938	GTA		0.353	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		8	125	1	0	0.00307968	1	0.00325696	8	125				
ZMYM4	9202	broad.mit.edu	37	1	35857931	35857931	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35857931G>T	ENST00000314607.6	+	16	2786	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V	ZMYM4_ENST00000373297.2_Silent_p.V813V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	902					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCTACAGTGAATTCTAACA	0.453																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(2704-2706)gtG>gtT		zinc finger, MYM-type 4							74.0	67.0	69.0					1																	35857931		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35857931G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2706G>T	1.37:g.35857931G>T						ZMYM4_ENST00000373297.2_Silent_p.V813V	p.V902V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			16	2786	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	902					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.2706G>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105674	0.20632	.	.	ENSG00000146463	ENST00000457946	.	.	.	4.79	-0.989	0.10242	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.6444	0.9853	0.01445	0.1818:0.3121:0.2177:0.2883	.	.	.	.	X	562	.	.	E	+	1	0	ZMYM4	35630518	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	0.136000	0.15974	0.143000	0.18926	0.591000	0.81541	GAA		0.453	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		4	37	1	0	0.00909568	1	0.00947522	4	37				
EPS8L3	79574	broad.mit.edu	37	1	110293362	110293362	+	Missense_Mutation	SNP	G	G	A	rs78041550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110293362G>A	ENST00000361965.4	-	18	1796	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	EPS8L3_ENST00000361852.4_Missense_Mutation_p.P534S|EPS8L3_ENST00000369805.3_Missense_Mutation_p.P565S|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	564						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCTCCCCAGGTCTTATGCGA	0.607																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1693-1695)Cct>Tct		EPS8-like 3							75.0	57.0	63.0					1																	110293362		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110293362G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1690C>T	1.37:g.110293362G>A	ENSP00000355255:p.Pro564Ser					RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P564S|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P534S	p.P565S	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	18	1922	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	564					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.1693C>T	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285290	0.59867	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.16597	2.33;2.33;2.33	5.64	3.72	0.42706	.	0.318671	0.30639	N	0.009192	T	0.09555	0.0235	M	0.72479	2.2	0.32074	N	0.594011	P;P;P	0.43826	0.818;0.722;0.775	B;B;B	0.42282	0.311;0.164;0.382	T	0.08310	-1.0728	10	0.48119	T	0.1	-3.3732	6.985	0.24723	0.0882:0.0:0.7396:0.1721	.	534;564;565	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	S	534;565;564	ENSP00000354551:P534S;ENSP00000358820:P565S;ENSP00000355255:P564S	ENSP00000354551:P534S	P	-	1	0	EPS8L3	110094885	0.962000	0.33011	0.630000	0.29268	0.776000	0.43924	1.984000	0.40658	0.703000	0.31848	0.561000	0.74099	CCT		0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		26	24	0	0	0	1	0	26	24				
ZNF426	79088	broad.mit.edu	37	19	9639588	9639588	+	Missense_Mutation	SNP	C	C	T	rs143787580		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639588C>T	ENST00000535489.1	-	6	1469	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	ZNF426_ENST00000593003.1_Missense_Mutation_p.R340H|ZNF426_ENST00000253115.2_Missense_Mutation_p.R378H			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R378H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTGAATAAGGCGTGAGGATGT	0.428																																						ENST00000593003.1																			1	Substitution - Missense(1)	p.R378H(1)	pancreas(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1018-1020)cGc>cAc		zinc finger protein 426		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	77.0	78.0		1133	-2.8	0.0	19	dbSNP_134	78	0,8600		0,0,4300	no	missense	ZNF426	NM_024106.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	378/555	9639588	1,13005	2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639588C>T	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1133G>A	19.37:g.9639588C>T	ENSP00000439017:p.Arg378His					ZNF426_ENST00000253115.2_Missense_Mutation_p.R378H|ZNF426_ENST00000535489.1_Missense_Mutation_p.R378H	p.R340H			Q9BUY5	ZN426_HUMAN			6	1496	-			378					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.1019G>A	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.192950	0.01607	2.27E-4	0.0	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.03920	3.76;3.76	1.38	-2.76	0.05896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	N	0.01431	-0.87	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.08055	0.003;0.003	T	0.45220	-0.9276	9	0.15066	T	0.55	.	3.4014	0.07324	0.1882:0.2594:0.0:0.5524	.	365;378	Q59EH4;Q9BUY5	.;ZN426_HUMAN	H	365;378;378	ENSP00000253115:R378H;ENSP00000439017:R378H	ENSP00000253115:R378H	R	-	2	0	ZNF426	9500588	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-10.927000	0.00004	-1.361000	0.02169	-0.379000	0.06801	CGC		0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		20	27	0	0	0	1	0	20	27				
ADCY2	108	broad.mit.edu	37	5	7706895	7706895	+	Missense_Mutation	SNP	G	G	A	rs573846891		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7706895G>A	ENST00000338316.4	+	8	1237	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R203H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATCAACATGCGCGTGGGCGTG	0.473																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1147-1149)cGc>cAc		adenylate cyclase 2 (brain)							278.0	244.0	256.0					5																	7706895		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706895G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1148G>A	5.37:g.7706895G>A	ENSP00000342952:p.Arg383His					ADCY2_ENST00000537121.1_Missense_Mutation_p.R203H	p.R383H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			8	1237	+			383					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1148G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	32	5.112588	0.94339	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.88124	-2.34;-2.34	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96371	0.8816	H	0.97918	4.105	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.978	D	0.97948	1.0330	10	0.87932	D	0	.	18.964	0.92687	0.0:0.0:1.0:0.0	.	203;383	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	383;234;203	ENSP00000342952:R383H;ENSP00000444803:R203H	ENSP00000342952:R383H	R	+	2	0	ADCY2	7759895	1.000000	0.71417	0.986000	0.45419	0.880000	0.50808	9.588000	0.98232	2.480000	0.83734	0.655000	0.94253	CGC		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		51	76	0	0	0	1	0	51	76				
SRGAP3	9901	broad.mit.edu	37	3	9097991	9097991	+	Missense_Mutation	SNP	C	C	T	rs187226406		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9097991C>T	ENST00000383836.3	-	8	1478	c.1051G>A	c.(1051-1053)Gtc>Atc	p.V351I	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V351I	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	351	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTGTCTGGACGGGCTGCTGA	0.587			T	RAF1	pilocytic astrocytoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		19199	0.0		0.001	False		,,,				2504	0.0					ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1051-1053)Gtc>Atc		SLIT-ROBO Rho GTPase activating protein 3		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	79.0	74.0	75.0		1051,1051	4.6	0.5	3		75	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	SRGAP3	NM_001033117.1,NM_014850.2	29,29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging,probably-damaging	351/1076,351/1100	9097991	5,13001	2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9097991C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1051G>A	3.37:g.9097991C>T	ENSP00000373347:p.Val351Ile					SRGAP3_ENST00000360413.3_Missense_Mutation_p.V351I|SRGAP3_ENST00000433332.3_5'UTR	p.V351I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	8	1478	-			351					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1051G>A	CCDS2572.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.07	2.127256	0.37533	2.27E-4	4.65E-4	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.55052	0.54;0.54	5.49	4.62	0.57501	.	0.066794	0.64402	D	0.000015	T	0.50394	0.1613	M	0.72118	2.19	0.58432	D	0.999998	P;P;P	0.38978	0.652;0.652;0.521	B;B;B	0.33620	0.167;0.167;0.08	T	0.54516	-0.8282	10	0.45353	T	0.12	.	13.9129	0.63878	0.0:0.9261:0.0:0.0739	.	220;351;351	Q9ULR4;O43295-2;O43295	.;.;SRGP2_HUMAN	I	351;351;231	ENSP00000373347:V351I;ENSP00000353587:V351I	ENSP00000353587:V351I	V	-	1	0	SRGAP3	9072991	1.000000	0.71417	0.495000	0.27527	0.010000	0.07245	5.858000	0.69532	1.318000	0.45170	-0.142000	0.14014	GTC		0.587	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			19	40	0	0	0	1	0	19	40				
FST	10468	broad.mit.edu	37	5	52779374	52779374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52779374C>T	ENST00000256759.3	+	3	701	c.318C>T	c.(316-318)tgC>tgT	p.C106C	FST_ENST00000396947.3_Silent_p.C106C	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	106	Follistatin-like 1.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GGAAAAAATGCCGAATGAACA	0.537																																						ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(316-318)tgC>tgT		follistatin							80.0	77.0	78.0					5																	52779374		2203	4300	6503	SO:0001819	synonymous_variant	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52779374C>T	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.318C>T	5.37:g.52779374C>T						FST_ENST00000256759.3_Silent_p.C106C	p.C106C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			3	484	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	106			Follistatin-like 1.		B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	c.318C>T	CCDS3959.1																																																																																				0.537	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		5	22	0	0	0	1	0	5	22				
MARCH4	57574	broad.mit.edu	37	2	217142452	217142452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217142452C>A	ENST00000273067.4	-	3	2574	c.808G>T	c.(808-810)Gac>Tac	p.D270Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	270						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAGAGAAGGTCTTGGCGCTGC	0.562																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(808-810)Gac>Tac		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							188.0	156.0	167.0					2																	217142452		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217142452C>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.808G>T	2.37:g.217142452C>A	ENSP00000273067:p.Asp270Tyr						p.D270Y	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	3	2574	-		Renal(323;0.0854)	270					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.808G>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964405	0.92791	.	.	ENSG00000144583	ENST00000273067	T	0.60920	0.15	5.4	5.4	0.78164	.	0.000000	0.85682	U	0.000000	T	0.76256	0.3962	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78669	-0.2114	10	0.87932	D	0	-4.92	18.1705	0.89744	0.0:1.0:0.0:0.0	.	270	Q9P2E8	MARH4_HUMAN	Y	270	ENSP00000273067:D270Y	ENSP00000273067:D270Y	D	-	1	0	MARCH4	216850697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.543000	0.85770	0.655000	0.94253	GAC		0.562	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		12	104	1	0	3.27435e-08	1	3.90559e-08	12	104				
CBX6	23466	broad.mit.edu	37	22	39262791	39262791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262791C>T	ENST00000407418.3	-	5	785	c.662G>A	c.(661-663)cGt>cAt	p.R221H	CBX6_ENST00000216083.6_Missense_Mutation_p.R203H			O95503	CBX6_HUMAN	chromobox homolog 6	221					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GATCTGTGTACGCAGGACGCT	0.701																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(661-663)cGt>cAt		chromobox homolog 6							51.0	47.0	48.0					22																	39262791		2203	4300	6503	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262791C>T		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.662G>A	22.37:g.39262791C>T	ENSP00000384490:p.Arg221His					CBX6_ENST00000216083.6_Missense_Mutation_p.R203H	p.R221H			O95503	CBX6_HUMAN			5	785	-	Melanoma(58;0.04)		221					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.662G>A	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316547	0.81469	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.69	4.69	0.59074	.	1.010360	0.07959	N	0.982083	T	0.64638	0.2616	L	0.32530	0.975	0.44309	D	0.997189	D	0.71674	0.998	P	0.54270	0.747	T	0.62651	-0.6809	9	0.59425	D	0.04	.	17.6193	0.88076	0.0:1.0:0.0:0.0	.	221	O95503	CBX6_HUMAN	H	221;203	.	ENSP00000216083:R203H	R	-	2	0	CBX6	37592737	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	2.218000	0.42889	2.158000	0.67659	0.407000	0.27541	CGT		0.701	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		20	40	0	0	0	1	0	20	40				
PLAT	5327	broad.mit.edu	37	8	42033629	42033629	+	Missense_Mutation	SNP	C	C	T	rs201967222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42033629C>T	ENST00000220809.4	-	14	1827	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000352041.3_Missense_Mutation_p.R478H|PLAT_ENST00000429089.2_Missense_Mutation_p.R524H|PLAT_ENST00000519510.1_Missense_Mutation_p.R461H|PLAT_ENST00000524009.1_Missense_Mutation_p.R435H|PLAT_ENST00000429710.2_Missense_Mutation_p.R398H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	524	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CAAAGTCATGCGGCCATCGTT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		17304	0.001		0.0	False		,,,				2504	0.0					ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1570-1572)cGc>cAc		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						90.0	73.0	78.0					8																	42033629		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42033629C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1571G>A	8.37:g.42033629C>T	ENSP00000220809:p.Arg524His					PLAT_ENST00000524009.1_Missense_Mutation_p.R435H|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000352041.3_Missense_Mutation_p.R478H|PLAT_ENST00000429710.2_Missense_Mutation_p.R398H|PLAT_ENST00000519510.1_Missense_Mutation_p.R461H|PLAT_ENST00000429089.2_Missense_Mutation_p.R524H	p.R524H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		14	1827	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	524			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.1571G>A	CCDS6126.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.12	1.261809	0.23051	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.90385	-2.51;-2.51;-2.66;-2.51;-2.51;-2.52	5.81	-1.2	0.09554	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.522169	0.23563	N	0.046825	D	0.84465	0.5478	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B;B	0.30114	0.269;0.269;0.022;0.075;0.113;0.1	B;B;B;B;B;B	0.27076	0.076;0.076;0.009;0.044;0.017;0.053	T	0.70185	-0.4941	10	0.30078	T	0.28	.	7.477	0.27382	0.1001:0.6629:0.0:0.2369	.	398;435;461;524;478;524	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	H	524;524;478;461;398;435	ENSP00000392045:R524H;ENSP00000220809:R524H;ENSP00000270188:R478H;ENSP00000428886:R461H;ENSP00000407861:R398H;ENSP00000429401:R435H	ENSP00000220809:R524H	R	-	2	0	PLAT	42152786	1.000000	0.71417	0.089000	0.20774	0.077000	0.17291	1.347000	0.33975	-0.602000	0.05775	0.462000	0.41574	CGC		0.542	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		6	10	0	0	0	1	0	6	10				
PLXNB2	23654	broad.mit.edu	37	22	50722625	50722625	+	Silent	SNP	G	G	A	rs375695976		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50722625G>A	ENST00000449103.1	-	13	2339	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	PLXNB2_ENST00000359337.4_Silent_p.N733N|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	733					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGTCTCGTTGGCATCGT	0.682																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2197-2199)aaC>aaT		plexin B2				0,4252		0,0,2126	53.0	59.0	57.0		2199	-4.0	1.0	22		57	1,8479		0,1,4239	no	coding-synonymous	PLXNB2	NM_012401.3		0,1,6365	AA,AG,GG		0.0118,0.0,0.0079		733/1839	50722625	1,12731	2126	4240	6366	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722625G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2199C>T	22.37:g.50722625G>A						PLXNB2_ENST00000359337.4_Silent_p.N733N|PLXNB2_ENST00000496720.1_5'UTR	p.N733N			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	2339	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	733					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2199C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	g	1.432	-0.569873	0.03910	0.0	1.18E-4	ENSG00000196576	ENST00000434732	.	.	.	4.39	-4.04	0.04010	.	.	.	.	.	T	0.54175	0.1842	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	T	0.54384	-0.8302	4	.	.	.	.	10.487	0.44729	0.4023:0.0:0.5977:0.0	.	.	.	.	M	75	.	.	T	-	2	0	PLXNB2	49064752	0.000000	0.05858	0.989000	0.46669	0.122000	0.20287	-1.633000	0.02022	-0.616000	0.05671	-0.696000	0.03686	ACG		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	65	0	0	0	1	0	7	65				
VPS13A	23230	broad.mit.edu	37	9	79954682	79954682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79954682C>T	ENST00000360280.3	+	48	6889	c.6629C>T	c.(6628-6630)gCa>gTa	p.A2210V	VPS13A_ENST00000376636.3_Missense_Mutation_p.A2171V|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2210V|VPS13A_ENST00000376634.4_Missense_Mutation_p.A2210V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2210					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGTTGTGGCATTTCATAGT	0.368																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(6628-6630)gCa>gTa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							146.0	140.0	142.0					9																	79954682		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79954682C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6629C>T	9.37:g.79954682C>T	ENSP00000353422:p.Ala2210Val					VPS13A_ENST00000376634.4_Missense_Mutation_p.A2210V|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2210V|VPS13A_ENST00000376636.3_Missense_Mutation_p.A2171V	p.A2210V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			48	6889	+			2210					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6629C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658512	0.88154	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.96	5.06	0.68205	Vacuolar protein sorting-associated protein (1);	0.060018	0.64402	D	0.000003	T	0.47284	0.1437	M	0.64997	1.995	0.80722	D	1	P;D;D;D	0.69078	0.744;0.997;0.991;0.991	P;D;D;D	0.70716	0.511;0.97;0.921;0.921	T	0.39482	-0.9612	10	0.18276	T	0.48	.	11.1665	0.48545	0.1285:0.8046:0.0:0.0669	.	2171;2210;2210;2210	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	2210;2171;2210;2210	ENSP00000365821:A2210V;ENSP00000365823:A2171V;ENSP00000353422:A2210V;ENSP00000349985:A2210V	ENSP00000349985:A2210V	A	+	2	0	VPS13A	79144502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.997000	0.49457	1.524000	0.49035	0.585000	0.79938	GCA		0.368	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		39	87	0	0	0	1	0	39	87				
SYNE2	23224	broad.mit.edu	37	14	64469558	64469558	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64469558A>T	ENST00000344113.4	+	30	4119	c.3907A>T	c.(3907-3909)Aaa>Taa	p.K1303*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.K1303*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K1303*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1303					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTATACTGAAATACAAAAC	0.388																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3907-3909)Aaa>Taa		spectrin repeat containing, nuclear envelope 2							82.0	80.0	81.0					14																	64469558		1855	4092	5947	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64469558A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3907A>T	14.37:g.64469558A>T	ENSP00000341781:p.Lys1303*					SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K1303*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K1303*|SYNE2_ENST00000357395.3_5'UTR	p.K1303*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	30	4137	+			1303					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.3907A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	40	8.220000	0.98712	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.48	0.0847	0.14439	.	0.531595	0.17013	N	0.190405	.	.	.	.	.	.	0.19775	N	0.999955	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8092	0.05436	0.3603:0.3473:0.0675:0.2249	.	.	.	.	X	1303	.	ENSP00000261678:K1303X	K	+	1	0	SYNE2	63539311	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.020000	0.12525	-0.222000	0.09958	0.482000	0.46254	AAA		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	51	0	0	0	1	0	6	51				
DNAH2	146754	broad.mit.edu	37	17	7662914	7662914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7662914G>T	ENST00000572933.1	+	16	4083	c.2623G>T	c.(2623-2625)Gga>Tga	p.G875*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.G875*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	875	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCTGCAAGGAAGTGTGGC	0.458																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2623-2625)Gga>Tga		dynein, axonemal, heavy chain 2							100.0	97.0	98.0					17																	7662914		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662914G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2623G>T	17.37:g.7662914G>T	ENSP00000458355:p.Gly875*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.G875*	p.G875*			Q9P225	DYH2_HUMAN			16	4083	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	875			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.2623G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	38	6.778718	0.97833	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.8	5.8	0.92144	.	0.338799	0.27100	N	0.020926	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	18.8208	0.92096	0.0:0.0:1.0:0.0	.	.	.	.	X	875	.	ENSP00000353818:G875X	G	+	1	0	DNAH2	7603639	0.919000	0.31177	0.956000	0.39512	0.211000	0.24417	2.532000	0.45659	2.745000	0.94114	0.491000	0.48974	GGA		0.458	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	39	1	0	3.32936e-07	1	3.90007e-07	18	39				
SETDB2	83852	broad.mit.edu	37	13	50054363	50054363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50054363G>A	ENST00000317257.8	+	8	1739	c.914G>A	c.(913-915)tGt>tAt	p.C305Y	SETDB2_ENST00000354234.4_Missense_Mutation_p.C293Y|SETDB2_ENST00000258672.5_Missense_Mutation_p.C293Y	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	305	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAACAAAATGTGCATGTCTT	0.358																																						ENST00000354234.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(877-879)tGt>tAt		SET domain, bifurcated 2							127.0	134.0	131.0					13																	50054363		2203	4300	6503	SO:0001583	missense	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50054363G>A	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.914G>A	13.37:g.50054363G>A	ENSP00000326477:p.Cys305Tyr					SETDB2_ENST00000258672.5_Missense_Mutation_p.C293Y|SETDB2_ENST00000317257.8_Missense_Mutation_p.C305Y	p.C293Y	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	7	1784	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	305			Pre-SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	c.878G>A	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469070	0.84533	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;D	0.87412	-2.25;-2.25;-2.25	5.82	5.82	0.92795	Pre-SET domain (2);	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.96541	0.9400	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	305;293;305	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	Y	293;305;293	ENSP00000346175:C293Y;ENSP00000326477:C305Y;ENSP00000258672:C293Y	ENSP00000258672:C293Y	C	+	2	0	SETDB2	48952364	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.902000	0.87389	2.752000	0.94435	0.655000	0.94253	TGT		0.358	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		42	86	0	0	0	1	0	42	86				
NINL	22981	broad.mit.edu	37	20	25470565	25470565	+	Silent	SNP	C	C	T	rs549521096		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25470565C>T	ENST00000278886.6	-	12	1615	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	NINL_ENST00000422516.1_Silent_p.S514S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	514					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCCTCTCCGAATCCGAAA	0.577																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1540-1542)tcG>tcA		ninein-like							174.0	163.0	167.0					20																	25470565		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25470565C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1542G>A	20.37:g.25470565C>T						NINL_ENST00000422516.1_Silent_p.S514S	p.S514S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			12	1615	-			514					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.1542G>A	CCDS33452.1																																																																																				0.577	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		41	57	0	0	0	1	0	41	57				
PPFIA1	8500	broad.mit.edu	37	11	70171029	70171029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70171029C>T	ENST00000253925.7	+	4	658	c.443C>T	c.(442-444)gCg>gTg	p.A148V	PPFIA1_ENST00000389547.3_Missense_Mutation_p.A148V|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	148					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGAGACAAGCGCAGTCTCCA	0.493																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(442-444)gCg>gTg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							118.0	121.0	120.0					11																	70171029		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171029C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.443C>T	11.37:g.70171029C>T	ENSP00000253925:p.Ala148Val					CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.A148V	p.A148V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		4	658	+			148					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.443C>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064024	0.93898	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746	T;T;T	0.55234	0.53;0.53;1.12	5.17	5.17	0.71159	.	0.070694	0.56097	D	0.000034	T	0.60196	0.2250	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.972;0.992	P;P	0.61397	0.499;0.888	T	0.64952	-0.6286	10	0.87932	D	0	.	19.0243	0.92926	0.0:1.0:0.0:0.0	.	148;148	Q13136;Q13136-2	LIPA1_HUMAN;.	V	148	ENSP00000253925:A148V;ENSP00000374198:A148V;ENSP00000432722:A148V	ENSP00000253925:A148V	A	+	2	0	PPFIA1	69848677	1.000000	0.71417	0.395000	0.26283	0.692000	0.40212	7.552000	0.82192	2.558000	0.86282	0.650000	0.86243	GCG		0.493	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		66	126	0	0	0	1	0	66	126				
IL3RA	3563	broad.mit.edu	37	X	1484094	1484094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1484094C>T	ENST00000331035.4	+	9	1172	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	IL3RA_ENST00000381469.2_Missense_Mutation_p.R197W	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	275					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.R275R(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATAAGAGCCCGGGAAAGAGT	0.572																																						ENST00000331035.4																			1	Substitution - coding silent(1)	p.R275R(1)	lung(1)	lung(1)|skin(2)	3						c.(823-825)Cgg>Tgg		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						77.0	88.0	84.0					X																	1484094		2201	4291	6492	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484094C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.823C>T	X.37:g.1484094C>T	ENSP00000327890:p.Arg275Trp					IL3RA_ENST00000381469.2_Missense_Mutation_p.R197W	p.R275W	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			9	1172	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	275					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.823C>T	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	12.03	1.816463	0.32145	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.96913	-2.12;-4.17	0.355	0.355	0.16069	Fibronectin, type III (1);Immunoglobulin-like fold (1);	661.220000	0.01380	U	0.012919	D	0.94169	0.8129	N	0.14661	0.345	0.09310	N	1	D;D	0.61080	0.989;0.969	P;P	0.53549	0.729;0.559	D	0.87986	0.2746	9	0.87932	D	0	-5.3156	.	.	.	.	196;275	P26951-2;P26951	.;IL3RA_HUMAN	W	275;197	ENSP00000327890:R275W;ENSP00000370878:R197W	ENSP00000327890:R275W	R	+	1	2	IL3RA	1444094	0.000000	0.05858	0.002000	0.10522	0.477000	0.33069	-0.895000	0.04118	0.436000	0.26393	0.081000	0.15443	CGG		0.572	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			21	35	0	0	0	1	0	21	35				
ABHD2	11057	broad.mit.edu	37	15	89659564	89659564	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89659564T>C	ENST00000352732.5	+	3	526	c.6T>C	c.(4-6)aaT>aaC	p.N2N	ABHD2_ENST00000355100.3_Silent_p.N2N|ABHD2_ENST00000565973.1_Silent_p.N2N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	2					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCAAGATGAATGCCATGCTGG	0.562																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(4-6)aaT>aaC		abhydrolase domain containing 2							99.0	87.0	91.0					15																	89659564		2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89659564T>C	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.6T>C	15.37:g.89659564T>C						ABHD2_ENST00000355100.3_Silent_p.N2N|ABHD2_ENST00000565973.1_Silent_p.N2N	p.N2N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			3	526	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		2					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.6T>C	CCDS10348.1																																																																																				0.562	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			16	41	0	0	0	1	0	16	41				
FAF1	11124	broad.mit.edu	37	1	51210375	51210375	+	Missense_Mutation	SNP	G	G	A	rs149117642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51210375G>A	ENST00000396153.2	-	5	891	c.440C>T	c.(439-441)aCg>aTg	p.T147M	FAF1_ENST00000371778.4_Missense_Mutation_p.T147M	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	147					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACATCTCCCGTCTTCCAGCC	0.299													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18676	0.0		0.0	False		,,,				2504	0.0					ENST00000396153.2																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(439-441)aCg>aTg		Fas (TNFRSF6) associated factor 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	136.0	131.0	132.0		440	5.8	1.0	1	dbSNP_134	132	0,8598		0,0,4299	no	missense	FAF1	NM_007051.2	81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	147/651	51210375	1,13003	2203	4299	6502	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51210375G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.440C>T	1.37:g.51210375G>A	ENSP00000379457:p.Thr147Met					FAF1_ENST00000371778.4_Missense_Mutation_p.T147M	p.T147M	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	5	891	-			147					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.440C>T	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591179	0.66219	2.27E-4	0.0	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.85	5.85	0.93711	.	0.219304	0.46442	D	0.000287	T	0.29620	0.0739	N	0.08118	0	0.80722	D	1	P	0.43024	0.798	B	0.38327	0.271	T	0.18999	-1.0319	9	0.48119	T	0.1	-12.0991	15.141	0.72609	0.0:0.1419:0.8581:0.0	.	147	Q9UNN5	FAF1_HUMAN	M	147;147;139;147	.	ENSP00000360843:T147M	T	-	2	0	FAF1	50982963	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.262000	0.43285	2.768000	0.95171	0.655000	0.94253	ACG		0.299	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		8	98	0	0	0	1	0	8	98				
ITGAL	3683	broad.mit.edu	37	16	30490414	30490414	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30490414C>A	ENST00000356798.6	+	5	510	c.330C>A	c.(328-330)gcC>gcA	p.A110A	ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000454514.2_Silent_p.A110A|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	110					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TTCTTTAGGCCTGTGACCCTG	0.517																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(328-330)gcC>gcA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						135.0	122.0	126.0					16																	30490414		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30490414C>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.330C>A	16.37:g.30490414C>A						RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Silent_p.A110A|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron	p.A110A	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			5	510	+			110					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.330C>A	CCDS32433.1																																																																																				0.517	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			10	45	1	0	1.76689e-08	1	2.11513e-08	10	45				
NBEAL2	23218	broad.mit.edu	37	3	47037063	47037063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47037063C>T	ENST00000450053.3	+	13	2017	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.P613L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	613					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCTGCACCCTATGGATACA	0.632																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1837-1839)cCt>cTt		neurobeachin-like 2							52.0	56.0	55.0					3																	47037063		2093	4218	6311	SO:0001583	missense	23218						binding	g.chr3:47037063C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1838C>T	3.37:g.47037063C>T	ENSP00000415034:p.Pro613Leu					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.P613L	p.P613L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	13	2017	+		Acute lymphoblastic leukemia(5;0.0534)	613					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.1838C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	0.502	-0.870294	0.02570	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.73363	-0.74;-0.74	4.53	4.53	0.55603	Concanavalin A-like lectin/glucanase (1);	0.452001	0.21486	N	0.073759	T	0.64649	0.2617	L	0.42245	1.32	0.54753	D	0.999985	B;B	0.30281	0.275;0.003	B;B	0.27076	0.076;0.013	T	0.65191	-0.6228	10	0.48119	T	0.1	.	10.3027	0.43661	0.2975:0.7024:0.0:0.0	.	579;613	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	L	613;613;579	ENSP00000292309:P613L;ENSP00000415034:P613L	ENSP00000292309:P613L	P	+	2	0	NBEAL2	47012067	0.981000	0.34729	0.470000	0.27216	0.069000	0.16628	0.878000	0.28126	2.517000	0.84864	0.655000	0.94253	CCT		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		20	29	0	0	0	1	0	20	29				
MRPL37	51253	broad.mit.edu	37	1	54678284	54678284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54678284C>A	ENST00000360840.5	+	5	1020	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MRPL37_ENST00000336230.6_Missense_Mutation_p.L184M|MRPL37_ENST00000605337.1_Missense_Mutation_p.L315M	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	315					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CAAGATGATCCTGTTTGCTTT	0.542																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(943-945)Ctg>Atg		mitochondrial ribosomal protein L37							145.0	140.0	142.0					1																	54678284		2203	4300	6503	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54678284C>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.943C>A	1.37:g.54678284C>A	ENSP00000354086:p.Leu315Met					MRPL37_ENST00000360840.5_Missense_Mutation_p.L315M|MRPL37_ENST00000336230.6_Missense_Mutation_p.L184M	p.L315M			Q9BZE1	RM37_HUMAN			5	991	+			315					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.943C>A	CCDS589.1	.	.	.	.	.	.	.	.	.	.	C	9.715	1.158194	0.21454	.	.	ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230	T;T	0.18016	2.24;2.24	5.21	4.22	0.49857	.	0.042539	0.85682	D	0.000000	T	0.14098	0.0341	N	0.20610	0.595	0.47698	D	0.999495	P;P;B	0.39883	0.693;0.509;0.287	P;B;B	0.46479	0.518;0.378;0.083	T	0.09357	-1.0678	10	0.17369	T	0.5	-11.1256	10.5905	0.45306	0.438:0.562:0.0:0.0	.	184;252;315	A6NHR2;E9PB99;Q9BZE1	.;.;RM37_HUMAN	M	315;252;184	ENSP00000354086:L315M;ENSP00000338526:L184M	ENSP00000328799:L252M	L	+	1	2	MRPL37	54450872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.446000	0.60014	2.423000	0.82170	0.655000	0.94253	CTG		0.542	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		13	84	1	0	2.32078e-09	1	2.82054e-09	13	84				
TMEM87B	84910	broad.mit.edu	37	2	112834827	112834827	+	Missense_Mutation	SNP	C	C	T	rs201189668	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112834827C>T	ENST00000283206.4	+	6	929	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	187						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TCTATTAAAACGGAGAATACA	0.318													C|||	2	0.000399361	0.0	0.0	5008	,	,		13023	0.0		0.0	False		,,,				2504	0.002					ENST00000283206.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						c.(559-561)aCg>aTg		transmembrane protein 87B		C	MET/THR	0,4402		0,0,2201	76.0	79.0	78.0		560	5.6	1.0	2		78	2,8592	2.2+/-6.3	0,2,4295	yes	missense	TMEM87B	NM_032824.2	81	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	187/556	112834827	2,12994	2201	4297	6498	SO:0001583	missense	84910					integral to membrane		g.chr2:112834827C>T	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.560C>T	2.37:g.112834827C>T	ENSP00000283206:p.Thr187Met						p.T187M	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN			6	929	+			187					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.560C>T	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194026	0.78902	0.0	2.33E-4	ENSG00000153214	ENST00000283206	.	.	.	5.64	5.64	0.86602	.	0.275715	0.41938	D	0.000797	T	0.65396	0.2687	L	0.40543	1.245	0.43043	D	0.994638	D;D	0.89917	1.0;0.995	D;P	0.62955	0.909;0.879	T	0.62305	-0.6882	9	0.34782	T	0.22	-19.5766	15.2051	0.73173	0.0:1.0:0.0:0.0	.	186;187	Q96K49-2;Q96K49	.;TM87B_HUMAN	M	187	.	ENSP00000283206:T187M	T	+	2	0	TMEM87B	112551298	0.995000	0.38212	0.970000	0.41538	0.952000	0.60782	3.545000	0.53648	2.655000	0.90218	0.591000	0.81541	ACG		0.318	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		23	35	0	0	0	1	0	23	35				
CCDC122	160857	broad.mit.edu	37	13	44432972	44432972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44432972G>A	ENST00000444614.3	-	6	875	c.617C>T	c.(616-618)aCt>aTt	p.T206I	CCDC122_ENST00000281508.3_Missense_Mutation_p.T206I|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	206										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		AAGAAAACAAGTTTTTTCAAT	0.249																																						ENST00000444614.3																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(616-618)aCt>aTt		coiled-coil domain containing 122							28.0	29.0	29.0					13																	44432972		2111	4197	6308	SO:0001583	missense	160857							g.chr13:44432972G>A	AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.617C>T	13.37:g.44432972G>A	ENSP00000407763:p.Thr206Ile					CCDC122_ENST00000281508.3_Missense_Mutation_p.T206I|CCDC122_ENST00000476570.2_5'UTR	p.T206I	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)	6	875	-		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)	206					B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	ENST00000444614.3	37	c.617C>T	CCDS9390.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947162	0.53186	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	T;T	0.26810	1.71;4.97	5.68	3.92	0.45320	.	0.261210	0.32444	N	0.006100	T	0.24353	0.0590	L	0.49350	1.555	0.31644	N	0.647694	P;B	0.46512	0.879;0.335	B;B	0.41571	0.36;0.114	T	0.30851	-0.9964	10	0.51188	T	0.08	-8.1021	10.6979	0.45909	0.0731:0.1313:0.7956:0.0	.	206;206	B7ZMJ0;Q5T0U0	.;CC122_HUMAN	I	206	ENSP00000407763:T206I;ENSP00000281508:T206I	ENSP00000281508:T206I	T	-	2	0	CCDC122	43330972	0.078000	0.21339	0.999000	0.59377	0.901000	0.52897	0.155000	0.16362	1.399000	0.46721	0.655000	0.94253	ACT		0.249	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974		5	9	0	0	0	1	0	5	9				
YPEL5	51646	broad.mit.edu	37	2	30379582	30379582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30379582C>T	ENST00000379520.3	+	4	569	c.65C>T	c.(64-66)aCg>aTg	p.T22M	YPEL5_ENST00000402708.1_Missense_Mutation_p.T22M|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000379519.3_Missense_Mutation_p.T22M|YPEL5_ENST00000261353.4_Missense_Mutation_p.T22M|YPEL5_ENST00000402003.3_Missense_Mutation_p.T22M	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	22										NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					AACTGTGATACGATCCTGACC	0.428																																						ENST00000379520.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7						c.(64-66)aCg>aTg		yippee-like 5 (Drosophila)							137.0	136.0	137.0					2																	30379582		2203	4300	6503	SO:0001583	missense	51646						peptide-methionine-(S)-S-oxide reductase activity	g.chr2:30379582C>T	AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.65C>T	2.37:g.30379582C>T	ENSP00000368835:p.Thr22Met					YPEL5_ENST00000402708.1_Missense_Mutation_p.T22M|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000379519.3_Missense_Mutation_p.T22M|YPEL5_ENST00000402003.3_Missense_Mutation_p.T22M|YPEL5_ENST00000261353.4_Missense_Mutation_p.T22M	p.T22M	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN			4	569	+	Acute lymphoblastic leukemia(172;0.155)		22					D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	Missense_Mutation	SNP	ENST00000379520.3	37	c.65C>T	CCDS1771.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168344	0.78339	.	.	ENSG00000119801	ENST00000379520;ENST00000379519;ENST00000261353;ENST00000402003;ENST00000402708	.	.	.	6.02	6.02	0.97574	Methionine sulphoxide reductase B (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.83603	2.65	0.80722	D	1	P	0.43024	0.798	B	0.37422	0.249	T	0.73908	-0.3834	9	0.62326	D	0.03	-0.978	19.5289	0.95219	0.0:1.0:0.0:0.0	.	22	P62699	YPEL5_HUMAN	M	22	.	ENSP00000261353:T22M	T	+	2	0	YPEL5	30233086	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	ACG		0.428	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215128.1	NM_016061		62	69	0	0	0	1	0	62	69				
FBXL2	25827	broad.mit.edu	37	3	33416806	33416806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33416806G>T	ENST00000484457.1	+	10	775	c.684G>T	c.(682-684)caG>caT	p.Q228H	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q144H|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTGGTGCAGATATGCAGGG	0.532																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(682-684)caG>caT		F-box and leucine-rich repeat protein 2							125.0	122.0	123.0					3																	33416806		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33416806G>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.684G>T	3.37:g.33416806G>T	ENSP00000417601:p.Gln228His					FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q144H|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q160H	p.Q228H	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			10	775	+			228						Missense_Mutation	SNP	ENST00000484457.1	37	c.684G>T	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101328	0.37048	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	T;T;T;T	0.29917	1.55;4.27;1.55;4.27	4.99	4.11	0.48088	.	0.220831	0.46758	D	0.000271	T	0.10508	0.0257	N	0.02213	-0.635	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.002;0.003	T	0.16041	-1.0416	10	0.31617	T	0.26	.	4.511	0.11912	0.1518:0.2221:0.6261:0.0	.	144;123;228	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	H	228;160;144;160	ENSP00000417601:Q228H;ENSP00000441228:Q160H;ENSP00000440794:Q144H;ENSP00000426163:Q160H	ENSP00000417601:Q228H	Q	+	3	2	FBXL2	33391810	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.807000	0.38902	2.718000	0.92993	0.644000	0.83932	CAG		0.532	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		7	87	1	0	5.18039e-06	1	5.91835e-06	7	87				
ISLR2	57611	broad.mit.edu	37	15	74425650	74425650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425650C>T	ENST00000361742.3	+	4	1324	c.555C>T	c.(553-555)tgC>tgT	p.C185C	ISLR2_ENST00000453268.2_Silent_p.C185C|ISLR2_ENST00000565540.1_Silent_p.C185C|ISLR2_ENST00000435464.1_Silent_p.C185C|ISLR2_ENST00000419208.1_Silent_p.C185C|ISLR2_ENST00000445793.1_Silent_p.C185C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.C185C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	185	LRRCT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTTCCACTGCGGCTGCGGCC	0.657																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(553-555)tgC>tgT		immunoglobulin superfamily containing leucine-rich repeat 2							61.0	68.0	66.0					15																	74425650		2196	4294	6490	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425650C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.555C>T	15.37:g.74425650C>T						ISLR2_ENST00000453268.2_Silent_p.C185C|ISLR2_ENST00000435464.1_Silent_p.C185C|ISLR2_ENST00000419208.1_Silent_p.C185C|ISLR2_ENST00000565159.1_Silent_p.C185C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Silent_p.C185C|ISLR2_ENST00000565540.1_Silent_p.C185C	p.C185C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1324	+			185			LRRCT.		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.555C>T	CCDS10259.1																																																																																				0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		46	63	0	0	0	1	0	46	63				
GPR155	151556	broad.mit.edu	37	2	175346648	175346648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175346648C>T	ENST00000392552.2	-	2	275	c.37G>A	c.(37-39)Gca>Aca	p.A13T	GPR155_ENST00000295500.4_Missense_Mutation_p.A13T|GPR155_ENST00000392551.2_Missense_Mutation_p.A13T	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	13					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATATTGACTGCAATGGTTAAG	0.408																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(37-39)Gca>Aca		G protein-coupled receptor 155							157.0	155.0	156.0					2																	175346648		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175346648C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.37G>A	2.37:g.175346648C>T	ENSP00000376335:p.Ala13Thr					GPR155_ENST00000295500.4_Missense_Mutation_p.A13T|GPR155_ENST00000392551.2_Missense_Mutation_p.A13T	p.A13T	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			2	275	-			13					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.37G>A	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540178	0.45176	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.49432	0.78;0.78;0.78	5.79	1.62	0.23740	.	0.771943	0.12455	N	0.467375	T	0.24431	0.0592	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	10	0.48119	T	0.1	-0.1626	5.5229	0.16943	0.1758:0.5016:0.0:0.3226	.	13	Q7Z3F1	GP155_HUMAN	T	13	ENSP00000376335:A13T;ENSP00000376334:A13T;ENSP00000295500:A13T	ENSP00000295500:A13T	A	-	1	0	GPR155	175054894	0.003000	0.15002	0.001000	0.08648	0.207000	0.24258	0.489000	0.22387	0.373000	0.24621	0.655000	0.94253	GCA		0.408	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		38	65	0	0	0	1	0	38	65				
MYH2	4620	broad.mit.edu	37	17	10429105	10429105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10429105G>A	ENST00000245503.5	-	31	4660	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1426W|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1426					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCAGCCGCTGCTTCGTC	0.512																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4276-4278)Cgg>Tgg		myosin, heavy chain 2, skeletal muscle, adult							75.0	71.0	72.0					17																	10429105		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429105G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4276C>T	17.37:g.10429105G>A	ENSP00000245503:p.Arg1426Trp					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1426W|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1426W	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			31	4660	-			1426					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4276C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431991	0.62844	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83837	-1.77;-1.77	4.9	-3.35	0.04928	Myosin tail (1);	0.000000	0.37715	U	0.001973	D	0.94118	0.8114	H	0.98333	4.205	0.45318	D	0.998311	D	0.89917	1.0	D	0.97110	1.0	D	0.94371	0.7596	10	0.87932	D	0	.	19.544	0.95284	0.0:0.0:0.2099:0.7901	.	1426	Q9UKX2	MYH2_HUMAN	W	1426	ENSP00000245503:R1426W;ENSP00000380367:R1426W	ENSP00000245503:R1426W	R	-	1	2	MYH2	10369830	0.017000	0.18338	0.803000	0.32268	0.827000	0.46813	-0.330000	0.07925	-0.767000	0.04633	-0.678000	0.03780	CGG		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		29	32	0	0	0	1	0	29	32				
IGSF8	93185	broad.mit.edu	37	1	160064677	160064677	+	Missense_Mutation	SNP	C	C	T	rs368150183		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160064677C>T	ENST00000368086.1	-	2	640	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G142S			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	142	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G142S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCACCTTGCCGCTGTAGCTG	0.617																																						ENST00000368086.1																			1	Substitution - Missense(1)	p.G142S(1)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(424-426)Ggc>Agc		immunoglobulin superfamily, member 8							29.0	31.0	30.0					1																	160064677		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160064677C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.424G>A	1.37:g.160064677C>T	ENSP00000357065:p.Gly142Ser					IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G142S	p.G142S			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	640	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		142			Ig-like C2-type 1.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.424G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693666	0.48202	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.64438	3.63;3.63;-0.1	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.663249	0.13387	N	0.391733	T	0.20414	0.0491	N	0.02011	-0.69	0.28655	N	0.906431	B	0.28419	0.211	B	0.19391	0.025	T	0.17961	-1.0352	10	0.33940	T	0.23	-6.6271	17.1985	0.86900	0.0:1.0:0.0:0.0	.	142	Q969P0	IGSF8_HUMAN	S	142	ENSP00000316664:G142S;ENSP00000357065:G142S;ENSP00000397464:G142S	ENSP00000316664:G142S	G	-	1	0	IGSF8	158331301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.121000	0.41977	2.405000	0.81733	0.563000	0.77884	GGC		0.617	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		13	18	0	0	0	1	0	13	18				
ZNF287	57336	broad.mit.edu	37	17	16455236	16455236	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16455236G>T	ENST00000395824.1	-	6	2837	c.2220C>A	c.(2218-2220)acC>acA	p.T740T	ZNF287_ENST00000395825.3_Silent_p.T740T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	733					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGGGTGAAGGTTTTACCAC	0.388																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(2218-2220)acC>acA		zinc finger protein 287							202.0	194.0	197.0					17																	16455236		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455236G>T	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.2220C>A	17.37:g.16455236G>T						ZNF287_ENST00000395825.3_Silent_p.T740T	p.T740T			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2837	-			733					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.2220C>A	CCDS11179.2																																																																																				0.388	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			7	165	1	0	8.12818e-05	1	8.99451e-05	7	165				
AHNAK2	113146	broad.mit.edu	37	14	105411294	105411294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411294C>T	ENST00000333244.5	-	7	10613	c.10494G>A	c.(10492-10494)gtG>gtA	p.V3498V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3498						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGCAGACACATCCAGCG	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10492-10494)gtG>gtA		AHNAK nucleoprotein 2							153.0	166.0	162.0					14																	105411294		1954	4131	6085	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105411294C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10494G>A	14.37:g.105411294C>T						AHNAK2_ENST00000557457.1_Intron	p.V3498V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10613	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3498					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.10494G>A	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		58	123	0	0	0	1	0	58	123				
CLCN6	1185	broad.mit.edu	37	1	11888655	11888655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11888655C>T	ENST00000346436.6	+	12	1147	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Silent_p.N365N|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Silent_p.N343N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	365					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATGCGAAACGTGCACCCGA	0.597																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1093-1095)aaC>aaT		chloride channel, voltage-sensitive 6							129.0	133.0	131.0					1																	11888655		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11888655C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1095C>T	1.37:g.11888655C>T						CLCN6_ENST00000376487.3_Silent_p.N343N|CLCN6_ENST00000376496.3_Silent_p.N365N|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron	p.N365N	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1147	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	365					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.1095C>T	CCDS138.1																																																																																				0.597	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		10	136	0	0	0	1	0	10	136				
SMCHD1	23347	broad.mit.edu	37	18	2762115	2762115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2762115G>A	ENST00000320876.6	+	36	4785	c.4447G>A	c.(4447-4449)Gtc>Atc	p.V1483I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1483I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1483					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATAGTTGAAGTCCTGCCTAA	0.378																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4447-4449)Gtc>Atc		structural maintenance of chromosomes flexible hinge domain containing 1							181.0	166.0	171.0					18																	2762115		1849	4109	5958	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2762115G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4447G>A	18.37:g.2762115G>A	ENSP00000326603:p.Val1483Ile					SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1483I|RP11-703M24.5_ENST00000583546.1_RNA	p.V1483I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			36	4785	+			1483					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4447G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442480	0.83993	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.28069	1.63;1.64	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	M	0.71581	2.175	0.37503	D	0.916851	D	0.58970	0.984	D	0.68192	0.956	T	0.60786	-0.7194	10	0.49607	T	0.09	-19.9105	19.0383	0.92987	0.0:0.0:1.0:0.0	.	1483	A6NHR9	SMHD1_HUMAN	I	1483	ENSP00000326603:V1483I;ENSP00000261598:V1483I	ENSP00000261598:V1483I	V	+	1	0	SMCHD1	2752115	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.078000	0.76821	2.492000	0.84095	0.650000	0.86243	GTC		0.378	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			17	51	0	0	0	1	0	17	51				
C9orf3	84909	broad.mit.edu	37	9	97563235	97563235	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97563235C>T	ENST00000375315.2	+	4	1315	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	C9orf3_ENST00000277198.2_Silent_p.L439L|C9orf3_ENST00000395357.2_Silent_p.L59L|C9orf3_ENST00000297979.5_Silent_p.L439L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	439					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTTCTCTCGGCTGGATGTTCT	0.537																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1315-1317)Ctg>Ttg		chromosome 9 open reading frame 3							125.0	119.0	121.0					9																	97563235		2203	4300	6503	SO:0001819	synonymous_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97563235C>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1315C>T	9.37:g.97563235C>T						C9orf3_ENST00000395357.2_Silent_p.L59L|C9orf3_ENST00000277198.2_Silent_p.L439L|C9orf3_ENST00000297979.5_Silent_p.L439L	p.L439L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	4	1315	+			439					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	c.1315C>T	CCDS55328.1																																																																																				0.537	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		11	110	0	0	0	1	0	11	110				
OSBPL7	114881	broad.mit.edu	37	17	45890677	45890677	+	Silent	SNP	G	G	A	rs139168515	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45890677G>A	ENST00000007414.3	-	16	1883	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	OSBPL7_ENST00000392507.3_Silent_p.Y564Y	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	564					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCACACTCGTAGGTCTCCC	0.627													g|||	2	0.000399361	0.0	0.0	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0					ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1690-1692)taC>taT		oxysterol binding protein-like 7							70.0	68.0	69.0					17																	45890677		2203	4300	6503	SO:0001819	synonymous_variant	114881				lipid transport		lipid binding	g.chr17:45890677G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1692C>T	17.37:g.45890677G>A						OSBPL7_ENST00000392507.3_Silent_p.Y564Y	p.Y564Y	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			16	1883	-			564					D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	c.1692C>T	CCDS11515.1																																																																																				0.627	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		19	21	0	0	0	1	0	19	21				
ZSWIM4	65249	broad.mit.edu	37	19	13915803	13915803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13915803C>T	ENST00000254323.2	+	3	742	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	ZSWIM4_ENST00000440752.2_5'Flank	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	185							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGTGGAGCTGCGGCTGCCCAT	0.642											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(553-555)Cgg>Tgg		zinc finger, SWIM-type containing 4							58.0	54.0	55.0					19																	13915803		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13915803C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.553C>T	19.37:g.13915803C>T	ENSP00000254323:p.Arg185Trp		OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691		p.R185W	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		3	742	+			185						Missense_Mutation	SNP	ENST00000254323.2	37	c.553C>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516601	0.85495	.	.	ENSG00000132003	ENST00000254323	T	0.53857	0.6	4.81	3.76	0.43208	.	0.000000	0.52532	D	0.000063	T	0.74405	0.3712	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79001	-0.1981	10	0.87932	D	0	-18.9756	12.1249	0.53910	0.1731:0.8269:0.0:0.0	.	185	Q9H7M6	ZSWM4_HUMAN	W	185	ENSP00000254323:R185W	ENSP00000254323:R185W	R	+	1	2	ZSWIM4	13776803	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	3.863000	0.56016	1.007000	0.39238	0.561000	0.74099	CGG		0.642	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		8	37	0	0	0	1	0	8	37				
IGF2	3481	broad.mit.edu	37	11	2161436	2161436	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2161436T>C	ENST00000381389.1	-	1	160				IGF2_ENST00000300632.5_Intron|IGF2_ENST00000434045.2_Missense_Mutation_p.I31V|IGF2_ENST00000381392.1_5'Flank|IGF2_ENST00000381406.4_5'Flank|IGF2-AS_ENST00000445504.2_RNA|IGF2_ENST00000381395.1_5'Flank|IGF2-AS_ENST00000381361.3_RNA|IGF2_ENST00000416167.2_5'Flank|IGF2_ENST00000418738.2_5'Flank|IGF2-AS_ENST00000381363.4_RNA			P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ATCTGGATAATGGTTACCCCG	0.577																																						ENST00000434045.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(91-93)Att>Gtt		insulin-like growth factor 2 (somatomedin A)							72.0	73.0	73.0					11																	2161436		1567	3581	5148	SO:0001627	intron_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2161436T>C	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000381389.1:c.5+650A>G	11.37:g.2161436T>C						IGF2_ENST00000337883.6_Intron|IGF2_ENST00000381389.1_Intron|IGF2_ENST00000300632.5_Intron	p.I31V	NM_001127598.1	NP_001121070.1	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	2	475	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	0			B.		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000381389.1	37	c.91A>G	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146306	0.37923	.	.	ENSG00000167244	ENST00000434045	D	0.92249	-3.0	1.9	0.753	0.18404	.	.	.	.	.	T	0.82208	0.4987	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72301	-0.4334	9	0.87932	D	0	.	3.2693	0.06876	0.0:0.2462:0.0:0.7538	.	31	C9JAF2	.	V	31	ENSP00000391826:I31V	ENSP00000391826:I31V	I	-	1	0	IGF2	2118012	0.105000	0.21958	0.478000	0.27316	0.853000	0.48598	0.081000	0.14823	0.221000	0.20879	0.392000	0.25879	ATT		0.577	IGF2-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026386.1	NM_000612		6	56	0	0	0	1	0	6	56				
MDN1	23195	broad.mit.edu	37	6	90513145	90513145	+	Silent	SNP	G	G	A	rs561511710		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90513145G>A	ENST00000369393.3	-	2	346	c.231C>T	c.(229-231)gcC>gcT	p.A77A	MDN1_ENST00000428876.1_Silent_p.A77A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	77					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAATGGCTTCGGCATTCCTTT	0.493																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(229-231)gcC>gcT		MDN1, midasin homolog (yeast)							207.0	181.0	190.0					6																	90513145		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90513145G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.231C>T	6.37:g.90513145G>A						MDN1_ENST00000428876.1_Silent_p.A77A	p.A77A			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	2	346	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	77					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.231C>T	CCDS5024.1																																																																																				0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			50	73	0	0	0	1	0	50	73				
ABCC12	94160	broad.mit.edu	37	16	48130758	48130758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48130758G>A	ENST00000311303.3	-	22	3439	c.3094C>T	c.(3094-3096)Ctc>Ttc	p.L1032F	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1032	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGTTCATGAGGACATCCATT	0.458																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3094-3096)Ctc>Ttc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							204.0	171.0	183.0					16																	48130758		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48130758G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3094C>T	16.37:g.48130758G>A	ENSP00000311030:p.Leu1032Phe					ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.L1032F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			22	3439	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1032			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.3094C>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249725	0.59212	.	.	ENSG00000140798	ENST00000311303	D	0.92911	-3.13	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.236142	0.40469	N	0.001095	D	0.95765	0.8622	M	0.82323	2.585	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.94922	0.8074	10	0.40728	T	0.16	.	13.7479	0.62887	0.0:0.0:0.8461:0.1539	.	1032	Q96J65	MRP9_HUMAN	F	1032	ENSP00000311030:L1032F	ENSP00000311030:L1032F	L	-	1	0	ABCC12	46688259	1.000000	0.71417	0.997000	0.53966	0.424000	0.31475	2.702000	0.47102	2.722000	0.93159	0.655000	0.94253	CTC		0.458	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		42	72	0	0	0	1	0	42	72				
POLM	27434	broad.mit.edu	37	7	44113479	44113479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113479G>A	ENST00000242248.5	-	9	1318	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M	POLM_ENST00000395831.3_Missense_Mutation_p.T326M|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.T369M	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	406					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GCAGGGCCTCGTGGATCCCCC	0.607								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(1216-1218)aCg>aTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							60.0	68.0	65.0					7																	44113479		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44113479G>A	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1217C>T	7.37:g.44113479G>A	ENSP00000242248:p.Thr406Met					POLM_ENST00000395831.3_Missense_Mutation_p.T326M|POLM_ENST00000335195.6_Missense_Mutation_p.T369M	p.T406M	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			9	1318	-			406					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.1217C>T	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935279	0.34189	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.43294	0.95;0.95;0.95	5.65	-11.3	0.00108	DNA-directed DNA polymerase X (1);	3.426680	0.00589	N	0.000344	T	0.22360	0.0539	N	0.03608	-0.345	0.09310	N	1	D;P;B	0.60160	0.987;0.818;0.279	P;B;B	0.52823	0.71;0.081;0.036	T	0.55198	-0.8178	10	0.46703	T	0.11	0.4906	2.4598	0.04538	0.4328:0.0717:0.2707:0.2248	.	326;369;406	Q86WQ9;Q6P5X8;Q9NP87	.;.;DPOLM_HUMAN	M	369;406;326	ENSP00000335141:T369M;ENSP00000242248:T406M;ENSP00000379174:T326M	ENSP00000242248:T406M	T	-	2	0	POLM	44080004	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.751000	0.04803	-2.150000	0.00796	-0.142000	0.14014	ACG		0.607	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		5	76	0	0	0	1	0	5	76				
MYO1H	283446	broad.mit.edu	37	12	109879449	109879449	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109879449C>A	ENST00000431443.2	+	25	2550	c.2550C>A	c.(2548-2550)atC>atA	p.I850I	MYO1H_ENST00000310903.5_Silent_p.I840I	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	850	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAGTGAAATCTTCAGGGGAA	0.413																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2518-2520)atC>atA		myosin IH							93.0	83.0	86.0					12																	109879449		1863	4103	5966	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109879449C>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2550C>A	12.37:g.109879449C>A						MYO1H_ENST00000431443.2_Silent_p.I850I	p.I840I			B4DNW6	B4DNW6_HUMAN			26	2626	+			31					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.2520C>A																																																																																					0.413	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	22	1	0	0.00909568	1	0.00947522	4	22				
WASF3	10810	broad.mit.edu	37	13	27250735	27250735	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27250735A>C	ENST00000335327.5	+	7	768	c.590A>C	c.(589-591)aAa>aCa	p.K197T	WASF3_ENST00000361042.4_Intron|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	197					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAGGTTAGAAAAGCCAGAAAC	0.488																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(589-591)aAa>aCa		WAS protein family, member 3							119.0	118.0	118.0					13																	27250735		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250735A>C	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.590A>C	13.37:g.27250735A>C	ENSP00000335055:p.Lys197Thr					WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Intron	p.K197T	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	768	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	197					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.590A>C	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	A	31	5.080444	0.94050	.	.	ENSG00000132970	ENST00000335327	T	0.54071	0.59	5.77	5.77	0.91146	.	0.041329	0.85682	D	0.000000	T	0.68467	0.3004	M	0.75447	2.3	0.80722	D	1	D	0.55172	0.97	P	0.58391	0.838	T	0.68284	-0.5449	10	0.36615	T	0.2	-19.7805	16.0656	0.80867	1.0:0.0:0.0:0.0	.	197	Q9UPY6	WASF3_HUMAN	T	197	ENSP00000335055:K197T	ENSP00000335055:K197T	K	+	2	0	WASF3	26148735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.200000	0.70718	0.482000	0.46254	AAA		0.488	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			11	25	0	0	0	1	0	11	25				
TXNDC16	57544	broad.mit.edu	37	14	52922149	52922149	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922149G>T	ENST00000281741.4	-	18	2106	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	579					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCAAGCAGCAGGGCTGGAAGA	0.413																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1735-1737)Ctg>Atg		thioredoxin domain containing 16							201.0	167.0	179.0					14																	52922149		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52922149G>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1735C>A	14.37:g.52922149G>T	ENSP00000281741:p.Leu579Met					TXNDC16_ENST00000554399.1_Intron	p.L579M	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			18	2106	-	Breast(41;0.0716)		579					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1735C>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474308	0.63737	.	.	ENSG00000087301	ENST00000281741	T	0.37411	1.2	4.86	3.97	0.46021	.	0.160167	0.41712	D	0.000827	T	0.47173	0.1431	M	0.69823	2.125	0.44946	D	0.997962	D;D	0.58970	0.984;0.972	P;P	0.52646	0.705;0.583	T	0.49615	-0.8921	10	0.59425	D	0.04	-47.0482	10.264	0.43445	0.0938:0.0:0.9062:0.0	.	574;579	B7ZME4;Q9P2K2	.;TXD16_HUMAN	M	579	ENSP00000281741:L579M	ENSP00000281741:L579M	L	-	1	2	TXNDC16	51991899	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.521000	0.45563	1.174000	0.42811	0.563000	0.77884	CTG		0.413	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		4	79	1	0	0.00909568	1	0.00947522	4	79				
MEX3A	92312	broad.mit.edu	37	1	156046973	156046973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156046973C>T	ENST00000532414.2	-	2	954	c.955G>A	c.(955-957)Gac>Aac	p.D319N	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	319						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCAGGCGTCGGAGTAGCGG	0.642																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(955-957)Gac>Aac		mex-3 RNA binding family member A							63.0	76.0	72.0					1																	156046973		2015	4176	6191	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046973C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.955G>A	1.37:g.156046973C>T	ENSP00000432845:p.Asp319Asn					MEX3A_ENST00000442784.1_5'UTR	p.D319N	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	954	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		319						Missense_Mutation	SNP	ENST00000532414.2	37	c.955G>A	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068789	0.36470	.	.	ENSG00000254726	ENST00000532414	T	0.42513	0.97	5.44	5.44	0.79542	.	0.353536	0.28778	N	0.014161	T	0.11410	0.0278	N	0.08118	0	0.43729	D	0.996219	P	0.44006	0.824	B	0.30646	0.118	T	0.04551	-1.0943	10	0.29301	T	0.29	.	17.8338	0.88690	0.0:1.0:0.0:0.0	.	319	A1L020	MEX3A_HUMAN	N	319	ENSP00000432845:D319N	ENSP00000432845:D319N	D	-	1	0	MEX3A	154313597	1.000000	0.71417	0.838000	0.33150	0.137000	0.21094	4.362000	0.59467	2.556000	0.86216	0.313000	0.20887	GAC		0.642	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		41	81	0	0	0	1	0	41	81				
CYP3A7	1551	broad.mit.edu	37	7	99303137	99303137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99303137C>T	ENST00000336374.2	-	13	1500	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	500					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTCCACTTACGGTCTCATCC	0.448																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1498-1500)Gta>Ata		cytochrome P450, family 3, subfamily A, polypeptide 7							116.0	109.0	111.0					7																	99303137		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99303137C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1498G>A	7.37:g.99303137C>T	ENSP00000337450:p.Val500Ile						p.V500I	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			13	1500	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		500					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1498G>A	CCDS5673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	0.105|0.105	-1.146835|-1.146835	0.01714|0.01714	.|.	.|.	ENSG00000160870|ENSG00000160870	ENST00000292414|ENST00000336374	.|T	.|0.69040	.|-0.37	3.47|3.47	-6.95|-6.95	0.01628|0.01628	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30070	.|0.0753	N|N	0.03115|0.03115	-0.41|-0.41	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.26849	.|-1.0091	.|9	.|0.05833	.|T	.|0.94	.|.	6.003|6.003	0.19531|0.19531	0.1224:0.5639:0.1238:0.1898|0.1224:0.5639:0.1238:0.1898	.|.	.|500	.|P24462	.|CP3A7_HUMAN	.|I	-1|500	.|ENSP00000337450:V500I	.|ENSP00000337450:V500I	.|V	-|-	.|1	.|0	CYP3A7|CYP3A7	99141073|99141073	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.274000|-3.274000	0.00531|0.00531	-2.475000|-2.475000	0.00527|0.00527	-1.373000|-1.373000	0.01185|0.01185	.|GTA		0.448	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			4	97	0	0	0	1	0	4	97				
NXF3	56000	broad.mit.edu	37	X	102334163	102334163	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102334163C>A	ENST00000395065.3	-	16	1465	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V	NXF3_ENST00000425644.1_Missense_Mutation_p.G127V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	455	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTGAACACCCCGTTGACAGA	0.587																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1363-1365)gGg>gTg		nuclear RNA export factor 3							252.0	223.0	233.0					X																	102334163		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102334163C>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1364G>T	X.37:g.102334163C>A	ENSP00000378504:p.Gly455Val					NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.G127V	p.G455V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			16	1465	-			455			NTF2.		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.1364G>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	c	15.21	2.766899	0.49574	.	.	ENSG00000147206	ENST00000395065;ENST00000425644	T;T	0.64085	-0.08;-0.08	4.22	4.22	0.49857	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89556	0.3803	10	0.87932	D	0	-4.1391	13.8743	0.63643	0.0:1.0:0.0:0.0	.	351;455	E9PEY7;Q9H4D5	.;NXF3_HUMAN	V	455;127	ENSP00000378504:G455V;ENSP00000401026:G127V	ENSP00000378504:G455V	G	-	2	0	NXF3	102220819	0.996000	0.38824	0.018000	0.16275	0.322000	0.28314	5.633000	0.67825	2.062000	0.61559	0.593000	0.82588	GGG		0.587	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		20	282	1	0	1.28384e-07	1	1.51375e-07	20	282				
SNHG14	104472715	broad.mit.edu	37	15	25436567	25436567	+	RNA	SNP	C	C	T	rs2714776		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25436567C>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGTTGGGTCGATGATGAGA	0.537																																						ENST00000424208.1																			0															T		9,1743		0,9,867	378.0	379.0	378.0			-0.6	0.1	15	dbSNP_100	378	0,3982		0,0,1991	no	intergenic				0,9,2858	TT,TC,CC		0.0,0.5137,0.157			25436567	9,5725	876	1991	2867			0							g.chr15:25436567C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436567C>T						SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1092	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.537	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			84	142	0	0	0	1	0	84	142				
RNF144B	255488	broad.mit.edu	37	6	18459946	18459946	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18459946G>T	ENST00000259939.3	+	6	962	c.645G>T	c.(643-645)aaG>aaT	p.K215N	RNF144B_ENST00000429054.2_Missense_Mutation_p.K126N	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	215					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AAAACTGCAAGCATACATTTT	0.468																																						ENST00000259939.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11						c.(643-645)aaG>aaT		ring finger protein 144B							155.0	141.0	146.0					6																	18459946		2203	4300	6503	SO:0001583	missense	255488				apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18459946G>T	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.645G>T	6.37:g.18459946G>T	ENSP00000259939:p.Lys215Asn					RNF144B_ENST00000429054.2_Missense_Mutation_p.K126N	p.K215N	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)		6	962	+	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	215					B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Missense_Mutation	SNP	ENST00000259939.3	37	c.645G>T	CCDS34345.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909634	0.72868	.	.	ENSG00000137393	ENST00000429054;ENST00000259939	T;T	0.81415	-1.49;-1.49	6.06	4.3	0.51218	Zinc finger, RING-type, conserved site (1);Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.041555	0.85682	D	0.000000	T	0.78898	0.4356	L	0.41356	1.27	0.58432	D	0.999997	D	0.71674	0.998	D	0.72625	0.978	T	0.78481	-0.2187	9	.	.	.	.	12.7819	0.57483	0.1315:0.0:0.8685:0.0	.	215	Q7Z419	R144B_HUMAN	N	126;215	ENSP00000411270:K126N;ENSP00000259939:K215N	.	K	+	3	2	RNF144B	18567925	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.709000	0.25734	0.912000	0.36772	0.655000	0.94253	AAG		0.468	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	XM_172581		10	90	1	0	0.010729	1	0.0111717	10	90				
EEF1D	1936	broad.mit.edu	37	8	144663400	144663400	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144663400G>A	ENST00000529272.1	-	4	688	c.288C>T	c.(286-288)ggC>ggT	p.G96G	NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000531621.1_Intron|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Splice_Site_p.G72G|EEF1D_ENST00000423316.2_Splice_Site_p.G462G|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Splice_Site_p.G96G|EEF1D_ENST00000532741.1_Splice_Site_p.G512G|EEF1D_ENST00000317198.6_Splice_Site_p.G96G|EEF1D_ENST00000395119.3_Splice_Site_p.G96G|EEF1D_ENST00000528610.1_Splice_Site_p.G72G|NAPRT1_ENST00000435154.3_5'Flank|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000442189.2_Splice_Site_p.G462G|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	96	Leucine-zipper.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGCCTCACCGCCACGCAGAC	0.687																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e4+1		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							28.0	26.0	27.0					8																	144663400		2202	4297	6499	SO:0001630	splice_region_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144663400G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.289+1C>T	8.37:g.144663400G>A						EEF1D_ENST00000442189.2_Splice_Site_p.G462_splice|EEF1D_ENST00000529272.1_Splice_Site_p.G96_splice|EEF1D_ENST00000528610.1_Splice_Site_p.G72_splice|EEF1D_ENST00000317198.6_Splice_Site_p.G96_splice|EEF1D_ENST00000524624.1_Splice_Site_p.G72_splice|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Splice_Site_p.G96_splice|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000423316.2_Splice_Site_p.G462_splice|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Splice_Site_p.G96_splice	p.G512_splice			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	1764	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		96					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Splice_Site	SNP	ENST00000529272.1	37	c.1537_splice	CCDS6405.1																																																																																				0.687	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378	Silent	4	28	0	0	0	1	0	4	28				
SLC39A7	7922	broad.mit.edu	37	6	33171570	33171570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33171570C>A	ENST00000374677.3	+	7	1763	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	SLC39A7_ENST00000374675.3_Missense_Mutation_p.L464M|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	464				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATGATGGTGCTGATTGCCCA	0.592																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1390-1392)Ctg>Atg		solute carrier family 39 (zinc transporter), member 7							62.0	66.0	64.0					6																	33171570		2006	4163	6169	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33171570C>A	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1390C>A	6.37:g.33171570C>A	ENSP00000363809:p.Leu464Met					SLC39A7_ENST00000374675.3_Missense_Mutation_p.L464M|SLC39A7_ENST00000463972.1_3'UTR	p.L464M	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			7	1763	+			464	CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).				B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.1390C>A	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569118	0.45798	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.55234	0.53;0.53	4.79	-2.16	0.07080	.	0.089995	0.45361	D	0.000372	T	0.48187	0.1486	M	0.84326	2.69	0.45295	D	0.998298	P;P	0.45634	0.863;0.863	P;P	0.53518	0.728;0.728	T	0.53830	-0.8383	10	0.87932	D	0	-23.0791	5.9933	0.19478	0.0:0.4163:0.1287:0.455	.	445;464	B4DVK8;Q92504	.;S39A7_HUMAN	M	464;445;369;464	ENSP00000363807:L464M;ENSP00000363809:L464M	ENSP00000363807:L464M	L	+	1	2	SLC39A7	33279548	0.755000	0.28372	0.945000	0.38365	0.848000	0.48234	0.261000	0.18442	-0.743000	0.04784	-0.311000	0.09066	CTG		0.592	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		18	36	1	0	3.32936e-07	1	3.90007e-07	18	36				
ANKRA2	57763	broad.mit.edu	37	5	72858427	72858427	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72858427G>T	ENST00000296785.3	-	2	938	c.280C>A	c.(280-282)Cta>Ata	p.L94I		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	94						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CCTTTAAATAGGACAGATGCC	0.323																																						ENST00000296785.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(280-282)Cta>Ata		ankyrin repeat, family A (RFXANK-like), 2							79.0	81.0	80.0					5																	72858427		2203	4300	6503	SO:0001583	missense	57763					cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	g.chr5:72858427G>T	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.280C>A	5.37:g.72858427G>T	ENSP00000296785:p.Leu94Ile						p.L94I	NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)	2	938	-		Lung NSC(167;0.0378)|Ovarian(174;0.0908)	94						Missense_Mutation	SNP	ENST00000296785.3	37	c.280C>A	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315147	0.60524	.	.	ENSG00000164331	ENST00000296785;ENST00000504641	T;T	0.57595	0.57;0.39	5.21	1.41	0.22369	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	L	0.44542	1.39	0.80722	D	1	D;P	0.76494	0.999;0.956	D;P	0.80764	0.994;0.899	T	0.57802	-0.7748	10	0.62326	D	0.03	-7.6618	9.5869	0.39521	0.4368:0.0:0.5632:0.0	.	94;94	D6RBK8;Q9H9E1	.;ANRA2_HUMAN	I	94	ENSP00000296785:L94I;ENSP00000422643:L94I	ENSP00000296785:L94I	L	-	1	2	ANKRA2	72894183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.506000	0.35747	0.204000	0.20548	0.655000	0.94253	CTA		0.323	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039		13	120	1	0	4.3838e-07	1	5.12524e-07	13	120				
MTMR1	8776	broad.mit.edu	37	X	149905115	149905115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905115C>T	ENST00000370390.3	+	10	1262	c.1105C>T	c.(1105-1107)Ctt>Ttt	p.L369F	MTMR1_ENST00000544228.1_Missense_Mutation_p.L369F|MTMR1_ENST00000451863.2_Missense_Mutation_p.L369F|MTMR1_ENST00000541925.1_Missense_Mutation_p.L275F|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000445323.2_Missense_Mutation_p.L377F	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	369	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGAACTTGTGTTCTT	0.403																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1129-1131)Ctt>Ttt		myotubularin related protein 1							173.0	138.0	150.0					X																	149905115		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149905115C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1105C>T	X.37:g.149905115C>T	ENSP00000359417:p.Leu369Phe					MTMR1_ENST00000541925.1_Missense_Mutation_p.L275F|MTMR1_ENST00000451863.2_Missense_Mutation_p.L369F|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.L369F|MTMR1_ENST00000370390.3_Missense_Mutation_p.L369F	p.L377F			Q13613	MTMR1_HUMAN			11	1250	+	Acute lymphoblastic leukemia(192;6.56e-05)		369			Myotubularin phosphatase.|Substrate binding (By similarity).		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.1129C>T	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932821	0.34096	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863	D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74	5.26	4.34	0.51931	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.070516	0.64402	D	0.000013	D	0.87521	0.6198	M	0.73217	2.22	0.80722	D	1	P;P	0.41313	0.745;0.634	B;B	0.40038	0.317;0.086	D	0.83952	0.0317	10	0.23891	T	0.37	.	6.9505	0.24542	0.1545:0.7033:0.0:0.1421	.	369;377	Q13613;F8WA39	MTMR1_HUMAN;.	F	275;369;377;369;369	ENSP00000441879:L275F;ENSP00000359417:L369F;ENSP00000414178:L377F;ENSP00000440534:L369F;ENSP00000387446:L369F	ENSP00000359417:L369F	L	+	1	0	MTMR1	149655773	0.997000	0.39634	0.032000	0.17829	0.486000	0.33341	1.304000	0.33482	2.191000	0.70037	0.544000	0.68410	CTT		0.403	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		35	78	0	0	0	1	0	35	78				
ST5	6764	broad.mit.edu	37	11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8720914G>A	ENST00000534127.1	-	18	3129	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	915	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2743-2745)gCg>gTg		suppression of tumorigenicity 5							44.0	47.0	46.0					11																	8720914		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8720914G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2744C>T	11.37:g.8720914G>A	ENSP00000433528:p.Ala915Val					ST5_ENST00000530991.1_Missense_Mutation_p.A387V|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V	p.A915V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	18	3129	-			915			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2744C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320936	0.95682	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081	T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.82	5.82	0.92795	DENN (3);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.998	P;D;D	0.70227	0.899;0.948;0.968	T	0.66176	-0.5989	10	0.87932	D	0	-10.7562	20.0852	0.97797	0.0:0.0:1.0:0.0	.	428;495;915	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	V	495;915;915;387;915;428;106;495;105	ENSP00000435097:A495V;ENSP00000433528:A915V;ENSP00000319678:A915V;ENSP00000432887:A387V;ENSP00000350294:A915V;ENSP00000436808:A428V;ENSP00000433349:A106V;ENSP00000436802:A495V;ENSP00000436067:A105V	ENSP00000319678:A915V	A	-	2	0	ST5	8677490	1.000000	0.71417	0.621000	0.29145	0.963000	0.63663	9.441000	0.97557	2.756000	0.94617	0.561000	0.74099	GCG		0.617	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		10	23	0	0	0	1	0	10	23				
CACNA2D1	781	broad.mit.edu	37	7	81746384	81746384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81746384T>C	ENST00000356253.5	-	6	757	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.I168V|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.I168V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	168					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAGTAGGAATATGGACTGCT	0.418																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(502-504)Att>Gtt		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						156.0	141.0	146.0					7																	81746384		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81746384T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.502A>G	7.37:g.81746384T>C	ENSP00000348589:p.Ile168Val					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I168V|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.I168V	p.I168V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			6	840	-			168					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.502A>G		.	.	.	.	.	.	.	.	.	.	T	16.52	3.146639	0.57151	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.21031	3.4;3.4;2.03	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.33137	0.985	0.80722	D	1	P	0.49447	0.924	P	0.60345	0.873	T	0.02933	-1.1092	10	0.13108	T	0.6	-19.8959	15.4154	0.74962	0.0:0.0:0.0:1.0	.	168	P54289-2	.	V	168	ENSP00000349320:I168V;ENSP00000348589:I168V;ENSP00000405395:I168V	ENSP00000284088:I168V	I	-	1	0	CACNA2D1	81584320	1.000000	0.71417	0.986000	0.45419	0.868000	0.49771	5.799000	0.69101	2.046000	0.60703	0.454000	0.30748	ATT		0.418	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				90	76	0	0	0	1	0	90	76				
CHRNB3	1142	broad.mit.edu	37	8	42552708	42552708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42552708C>T	ENST00000289957.2	+	1	147	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	7					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AGATTTTATGCTGGTTCTCAT	0.398																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(19-21)Ctg>Ttg		cholinergic receptor, nicotinic, beta 3 (neuronal)							127.0	110.0	116.0					8																	42552708		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42552708C>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.19C>T	8.37:g.42552708C>T						CHRNB3_ENST00000531610.1_3'UTR	p.L7L	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		1	147	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	7					Q15827	Silent	SNP	ENST00000289957.2	37	c.19C>T	CCDS6134.1																																																																																				0.398	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			38	52	0	0	0	1	0	38	52				
MXD4	10608	broad.mit.edu	37	4	2252325	2252325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2252325G>A	ENST00000337190.2	-	6	889	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	192					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGCCACTGTCGCCGCCGGTGC	0.701																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(574-576)ggC>ggT		MAX dimerization protein 4							26.0	24.0	25.0					4																	2252325		2203	4300	6503	SO:0001819	synonymous_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2252325G>A		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.576C>T	4.37:g.2252325G>A							p.G192G	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			6	889	-			192					A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	37	c.576C>T	CCDS3361.1																																																																																				0.701	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		4	9	0	0	0	1	0	4	9				
PLD1	5337	broad.mit.edu	37	3	171392294	171392294	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392294A>T	ENST00000351298.4	-	19	2351	c.2225T>A	c.(2224-2226)gTa>gAa	p.V742E	PLD1_ENST00000356327.5_Missense_Mutation_p.V704E|PLD1_ENST00000340989.4_Missense_Mutation_p.V742E|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTTACCTGTACGTTAGCATG	0.393																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2110-2112)gTa>gAa		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						94.0	87.0	90.0					3																	171392294		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171392294A>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2225T>A	3.37:g.171392294A>T	ENSP00000342793:p.Val742Glu					PLD1_ENST00000340989.4_Missense_Mutation_p.V742E|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.V742E	p.V704E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		18	2181	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		742			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2111T>A	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.213624|4.213624	0.79352|0.79352	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000446289	T;T;T|.	0.24350|.	1.86;1.86;1.86|.	5.8|5.8	3.34|3.34	0.38264|0.38264	.|.	0.115257|.	0.64402|.	D|.	0.000017|.	T|T	0.78604|0.78604	0.4309|0.4309	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.49862|.	0.686;0.686;0.559;0.929|.	P;P;P;P|.	0.55161|.	0.717;0.717;0.526;0.77|.	T|T	0.79431|0.79431	-0.1806|-0.1806	10|5	0.87932|.	D|.	0|.	-6.3071|-6.3071	10.5373|10.5373	0.45011|0.45011	0.8673:0.0:0.1327:0.0|0.8673:0.0:0.1327:0.0	.|.	704;742;727;742|.	Q13393-2;Q13393-4;Q59EA4;Q13393|.	.;.;.;PLD1_HUMAN|.	E|N	704;742;742|5	ENSP00000348681:V704E;ENSP00000342793:V742E;ENSP00000340326:V742E|.	ENSP00000340326:V742E|.	V|Y	-|-	2|1	0|0	PLD1|PLD1	172874988|172874988	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.322000|0.322000	0.28314|0.28314	6.207000|6.207000	0.72159|0.72159	0.420000|0.420000	0.25954|0.25954	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.393	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		28	34	0	0	0	1	0	28	34				
MGA	23269	broad.mit.edu	37	15	41989149	41989149	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41989149G>A	ENST00000570161.1	+	2	1941	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	MGA_ENST00000566586.1_Silent_p.G647G|MGA_ENST00000545763.1_Silent_p.G647G|MGA_ENST00000219905.7_Silent_p.G647G|MGA_ENST00000389936.4_Silent_p.G647G			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAGCCCTGGGAGTACCTTTC	0.408																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1939-1941)ggG>ggA		MGA, MAX dimerization protein							18.0	16.0	17.0					15																	41989149		1859	4090	5949	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41989149G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1941G>A	15.37:g.41989149G>A						MGA_ENST00000389936.4_Silent_p.G647G|MGA_ENST00000566586.1_Silent_p.G647G|MGA_ENST00000570161.1_Silent_p.G647G|MGA_ENST00000545763.1_Silent_p.G647G	p.G647G	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	2122	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	647					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.1941G>A	CCDS55959.1																																																																																				0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	8	0	0	0	1	0	6	8				
HELLS	3070	broad.mit.edu	37	10	96356854	96356854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96356854G>A	ENST00000348459.5	+	21	2513	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	HELLS_ENST00000394045.1_Missense_Mutation_p.R705Q|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.R849Q|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTAGATCGAAGTGATCTT	0.299																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(2407-2409)cGa>cAa		helicase, lymphoid-specific							135.0	132.0	133.0					10																	96356854		2203	4298	6501	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96356854G>A	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2408G>A	10.37:g.96356854G>A	ENSP00000239027:p.Arg803Gln					HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R705Q|HELLS_ENST00000371332.4_Missense_Mutation_p.R849Q|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR	p.R803Q	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	21	2513	+		Colorectal(252;0.0429)	803						Missense_Mutation	SNP	ENST00000348459.5	37	c.2408G>A	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396290	0.96009	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.92805	-2.89;-2.58;-3.11;-1.98	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.995;1.0;0.996;0.999	D	0.96226	0.9164	10	0.87932	D	0	-8.3558	19.5289	0.95219	0.0:0.0:1.0:0.0	.	787;774;673;705;803	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	Q	803;705;849;240	ENSP00000239027:R803Q;ENSP00000377609:R705Q;ENSP00000360383:R849Q;ENSP00000360378:R240Q	ENSP00000239027:R803Q	R	+	2	0	HELLS	96346844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.157000	0.94714	2.865000	0.98341	0.655000	0.94253	CGA		0.299	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		28	30	0	0	0	1	0	28	30				
C8orf86	389649	broad.mit.edu	37	8	38386085	38386085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38386085C>T	ENST00000358138.1	-	1	95	c.71G>A	c.(70-72)aGc>aAc	p.S24N	C8orf86_ENST00000437935.2_Missense_Mutation_p.S24N	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	24										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GTCTCTAAGGCTCCTGCCAAC	0.552																																						ENST00000358138.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(70-72)aGc>aAc		chromosome 8 open reading frame 86							81.0	75.0	77.0					8																	38386085		2203	4300	6503	SO:0001583	missense	389649							g.chr8:38386085C>T	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.71G>A	8.37:g.38386085C>T	ENSP00000350856:p.Ser24Asn					C8orf86_ENST00000437935.2_Missense_Mutation_p.S24N	p.S24N	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN			1	95	-			24					A4QPB7	Missense_Mutation	SNP	ENST00000358138.1	37	c.71G>A	CCDS6108.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.352053	0.24512	.	.	ENSG00000196166	ENST00000358138;ENST00000437935	T;T	0.55413	0.56;0.52	3.98	2.07	0.26955	.	.	.	.	.	T	0.26774	0.0655	N	0.08118	0	0.09310	N	1	B	0.33103	0.397	B	0.25291	0.059	T	0.14811	-1.0459	9	0.87932	D	0	.	5.262	0.15578	0.0:0.7217:0.0:0.2783	.	24	Q6ZUL3	CH086_HUMAN	N	24	ENSP00000350856:S24N;ENSP00000389615:S24N	ENSP00000350856:S24N	S	-	2	0	C8orf86	38505242	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.339000	0.19875	0.954000	0.37851	0.655000	0.94253	AGC		0.552	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		23	25	0	0	0	1	0	23	25				
ATM	472	broad.mit.edu	37	11	108216544	108216544	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108216544C>A	ENST00000452508.2	+	59	8682	c.8493C>A	c.(8491-8493)ttC>ttA	p.F2831L	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.F2831L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2831	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AACCAGTTTTCCGTTACTTCT	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8491-8493)ttC>ttA	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							145.0	151.0	149.0					11																	108216544		2200	4298	6498	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108216544C>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8493C>A	11.37:g.108216544C>A	ENSP00000388058:p.Phe2831Leu	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.F2831L	p.F2831L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	58	8878	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2831			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8493C>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415817	0.83449	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73469	-0.75;-0.75	5.45	3.34	0.38264	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.74191	-0.3745	10	0.56958	D	0.05	.	8.4377	0.32797	0.0:0.5842:0.0:0.4158	.	2831	Q13315	ATM_HUMAN	L	2831	ENSP00000278616:F2831L;ENSP00000388058:F2831L	ENSP00000278616:F2831L	F	+	3	2	ATM	107721754	0.972000	0.33761	1.000000	0.80357	0.990000	0.78478	0.195000	0.17155	0.486000	0.27676	-0.145000	0.13849	TTC		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		10	177	1	0	0.00829132	1	0.00869385	10	177				
PABPC1L	80336	broad.mit.edu	37	20	43561799	43561799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43561799C>T	ENST00000217073.2	+	10	1417	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.R27C|PABPC1L_ENST00000217075.2_Missense_Mutation_p.R27C|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R473C|PABPC1L_ENST00000372824.1_Missense_Mutation_p.R27C			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	473					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCAGGTGCCACGCACGGTGCC	0.652																																						ENST00000372824.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(79-81)Cgc>Tgc		poly(A) binding protein, cytoplasmic 1-like							22.0	24.0	23.0					20																	43561799		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43561799C>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1417C>T	20.37:g.43561799C>T	ENSP00000217073:p.Arg473Cys					PABPC1L_ENST00000255136.3_Missense_Mutation_p.R473C|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R473C|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.R27C|PABPC1L_ENST00000217075.2_Missense_Mutation_p.R27C	p.R27C			Q4VXU2	PAP1L_HUMAN			1	1597	+			473			RRM 1.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.79C>T	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530425	0.45073	.	.	ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075	T;T;T;T;T	0.51574	2.3;2.3;0.74;0.73;0.7	5.8	3.84	0.44239	.	1.081660	0.07025	N	0.827411	T	0.48696	0.1514	L	0.29908	0.895	0.19775	N	0.99995	D;D	0.71674	0.981;0.998	P;P	0.53649	0.462;0.731	T	0.31558	-0.9939	10	0.48119	T	0.1	.	8.3231	0.32140	0.4038:0.5264:0.0:0.0699	.	473;27	Q4VXU2;G5E9L3	PAP1L_HUMAN;.	C	473;27;27;473;27;27;27	ENSP00000255136:R473C;ENSP00000217073:R473C;ENSP00000361911:R27C;ENSP00000361906:R27C;ENSP00000217075:R27C	ENSP00000217073:R473C	R	+	1	0	PABPC1L	42995213	0.000000	0.05858	0.057000	0.19452	0.423000	0.31445	0.660000	0.25009	0.763000	0.33175	0.655000	0.94253	CGC		0.652	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			7	8	0	0	0	1	0	7	8				
ULK2	9706	broad.mit.edu	37	17	19750088	19750088	+	Missense_Mutation	SNP	C	C	T	rs565406152		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19750088C>T	ENST00000395544.4	-	6	930	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ULK2_ENST00000361658.2_Missense_Mutation_p.R144H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGATTTTCTGCGATTGGCATA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19880	0.001		0.0	False		,,,				2504	0.0					ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(430-432)cGc>cAc		unc-51 like autophagy activating kinase 2							287.0	268.0	274.0					17																	19750088		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19750088C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.431G>A	17.37:g.19750088C>T	ENSP00000378914:p.Arg144His					ULK2_ENST00000361658.2_Missense_Mutation_p.R144H	p.R144H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			6	930	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		144			Protein kinase.		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.431G>A	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298494	0.81025	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.65364	-0.15;-0.15	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71034	-0.4709	10	0.46703	T	0.11	-16.5118	18.4836	0.90820	0.0:1.0:0.0:0.0	.	144	Q8IYT8	ULK2_HUMAN	H	144	ENSP00000354877:R144H;ENSP00000378914:R144H	ENSP00000354877:R144H	R	-	2	0	ULK2	19690680	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.596000	0.61055	2.681000	0.91329	0.650000	0.86243	CGC		0.403	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		94	154	0	0	0	1	0	94	154				
VPS13B	157680	broad.mit.edu	37	8	100493863	100493863	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493863A>G	ENST00000358544.2	+	25	3814	c.3703A>G	c.(3703-3705)Aag>Gag	p.K1235E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1235E|VPS13B_ENST00000395996.1_Missense_Mutation_p.K1235E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1235					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATCATGAATAAGGTCTGGAA	0.413																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3703-3705)Aag>Gag		vacuolar protein sorting 13 homolog B (yeast)							159.0	159.0	159.0					8																	100493863		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100493863A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3703A>G	8.37:g.100493863A>G	ENSP00000351346:p.Lys1235Glu					VPS13B_ENST00000358544.2_Missense_Mutation_p.K1235E|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1235E	p.K1235E			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		25	3814	+	Breast(36;3.73e-07)		1235					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3703A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.029527	0.35797	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.38722	1.12;1.12;1.12	5.08	2.52	0.30459	.	0.234553	0.40554	N	0.001064	T	0.29817	0.0745	L	0.44542	1.39	0.33343	D	0.570112	B;B;B;B	0.23806	0.089;0.091;0.0;0.089	B;B;B;B	0.29862	0.075;0.079;0.001;0.108	T	0.29671	-1.0004	10	0.08179	T	0.78	.	7.5794	0.27955	0.7847:0.1407:0.0745:0.0	.	1234;1235;1235;1235	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	E	1235	ENSP00000349685:K1235E;ENSP00000351346:K1235E;ENSP00000379318:K1235E	ENSP00000349685:K1235E	K	+	1	0	VPS13B	100563039	1.000000	0.71417	0.133000	0.22050	0.979000	0.70002	2.533000	0.45667	0.777000	0.33496	0.533000	0.62120	AAG		0.413	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		25	173	0	0	0	1	0	25	173				
PRRC2B	84726	broad.mit.edu	37	9	134354638	134354638	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134354638G>T	ENST00000357304.4	+	18	4813		c.e18-1		PRRC2B_ENST00000405995.1_Splice_Site|PRRC2B_ENST00000458550.1_Splice_Site|PRRC2B_ENST00000372249.1_Splice_Site	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTCCCCTCAGGTGCCTGTCA	0.498																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.e18-1		proline-rich coiled-coil 2B							72.0	70.0	71.0					9																	134354638		1956	4158	6114	SO:0001630	splice_region_variant	84726						protein binding	g.chr9:134354638G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4759-1G>T	9.37:g.134354638G>T						PRRC2B_ENST00000372249.1_Splice_Site|PRRC2B_ENST00000405995.1_Splice_Site|PRRC2B_ENST00000458550.1_Splice_Site		NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			18	4813	+								O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Splice_Site	SNP	ENST00000357304.4	37		CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777983	0.70107	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000451855	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5655	0.87918	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRC2B	133344459	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	8.754000	0.91642	2.378000	0.81104	0.455000	0.32223	.		0.498	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	15	24	1	0	6.94344e-10	1	8.49476e-10	15	24				
SEC16B	89866	broad.mit.edu	37	1	177899015	177899015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177899015C>T	ENST00000308284.6	-	26	3250	c.3161G>A	c.(3160-3162)cGc>cAc	p.R1054H	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	1054					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTGGGATAGCGACGCTGAGC	0.512																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(3160-3162)cGc>cAc		SEC16 homolog B (S. cerevisiae)							100.0	107.0	105.0					1																	177899015		2032	4188	6220	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177899015C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.3161G>A	1.37:g.177899015C>T	ENSP00000308339:p.Arg1054His					RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.R1054H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			26	3250	-			1054					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.3161G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606216	0.87157	.	.	ENSG00000120341	ENST00000308284;ENST00000414025	T	0.20881	2.04	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.44201	0.1282	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.991	T	0.32214	-0.9915	10	0.72032	D	0.01	-16.3404	14.6779	0.68996	0.0:1.0:0.0:0.0	.	1055;1054;751	B1AM08;Q96JE7;Q96PW0	.;SC16B_HUMAN;.	H	1054;739	ENSP00000308339:R1054H	ENSP00000308339:R1054H	R	-	2	0	AL359075.1	176165638	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.575000	0.53870	2.527000	0.85204	0.561000	0.74099	CGC		0.512	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		13	13	0	0	0	1	0	13	13				
UBA2	10054	broad.mit.edu	37	19	34935965	34935965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34935965G>A	ENST00000246548.4	+	8	780	c.710G>A	c.(709-711)cGt>cAt	p.R237H	UBA2_ENST00000439527.2_Missense_Mutation_p.R141H	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	237					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GACATTAAACGTATTTCTACT	0.328																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(421-423)cGt>cAt		ubiquitin-like modifier activating enzyme 2							98.0	97.0	98.0					19																	34935965		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34935965G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.710G>A	19.37:g.34935965G>A	ENSP00000246548:p.Arg237His					UBA2_ENST00000246548.4_Missense_Mutation_p.R237H	p.R141H			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		8	920	+	Esophageal squamous(110;0.162)		237					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.422G>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424203	0.83667	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.60040	0.22;1.38	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.82823	2.61	0.80722	D	1	D	0.54772	0.968	B	0.37943	0.261	T	0.69921	-0.5014	10	0.46703	T	0.11	-12.9296	18.524	0.90965	0.0:0.0:1.0:0.0	.	237	Q9UBT2	SAE2_HUMAN	H	110;237;141	ENSP00000246548:R237H;ENSP00000437484:R141H	ENSP00000246548:R237H	R	+	2	0	UBA2	39627805	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.713000	0.91408	2.736000	0.93811	0.591000	0.81541	CGT		0.328	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		8	75	0	0	0	1	0	8	75				
HLTF	6596	broad.mit.edu	37	3	148781309	148781309	+	Missense_Mutation	SNP	C	C	T	rs535340588	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148781309C>T	ENST00000310053.5	-	10	1262	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_ENST00000392912.2_Missense_Mutation_p.A357T|HLTF_ENST00000465259.1_Missense_Mutation_p.A357T|HLTF_ENST00000494055.1_Missense_Mutation_p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	357					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343													C|||	3	0.000599042	0.0	0.0	5008	,	,		17008	0.0		0.0	False		,,,				2504	0.0031					ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1069-1071)Gca>Aca		helicase-like transcription factor							100.0	102.0	101.0					3																	148781309		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148781309C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1069G>A	3.37:g.148781309C>T	ENSP00000308944:p.Ala357Thr					HLTF_ENST00000494055.1_Missense_Mutation_p.A357T|HLTF_ENST00000465259.1_Missense_Mutation_p.A357T|HLTF_ENST00000392912.2_Missense_Mutation_p.A357T	p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	1262	-			357					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1069G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	7.152	0.583976	0.13749	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.86	2.06	0.26882	DEAD-like helicase (1);	.	.	.	.	T	0.75657	0.3879	N	0.19112	0.55	0.22017	N	0.999415	B;B;B	0.19706	0.038;0.038;0.038	B;B;B	0.16289	0.015;0.008;0.015	T	0.57831	-0.7743	9	0.13470	T	0.59	-10.298	3.6234	0.08104	0.137:0.5841:0.1323:0.1466	.	357;357;357	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	T	357;357;357;357;354;354	ENSP00000420745:A357T;ENSP00000308944:A357T;ENSP00000376644:A357T;ENSP00000420429:A357T	ENSP00000308944:A357T	A	-	1	0	HLTF	150263999	0.094000	0.21725	0.839000	0.33178	0.444000	0.32077	0.253000	0.18296	0.167000	0.19631	0.650000	0.86243	GCA		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			22	50	0	0	0	1	0	22	50				
ZMPSTE24	10269	broad.mit.edu	37	1	40735765	40735765	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40735765T>G	ENST00000372759.3	+	5	758	c.593T>G	c.(592-594)aTt>aGt	p.I198S		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	198					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TATTTTTTTATTTATGCCTGG	0.328																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(592-594)aTt>aGt		zinc metallopeptidase STE24							185.0	198.0	193.0					1																	40735765		2203	4299	6502	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40735765T>G	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.593T>G	1.37:g.40735765T>G	ENSP00000361845:p.Ile198Ser						p.I198S	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		5	758	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	198					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.593T>G	CCDS449.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753524	0.89753	.	.	ENSG00000084073	ENST00000372759	D	0.83914	-1.78	5.78	5.78	0.91487	.	0.046775	0.85682	D	0.000000	D	0.87485	0.6189	L	0.52759	1.655	0.80722	D	1	D	0.55172	0.97	P	0.59948	0.866	D	0.88054	0.2789	10	0.56958	D	0.05	-0.0232	16.1037	0.81205	0.0:0.0:0.0:1.0	.	198	O75844	FACE1_HUMAN	S	198	ENSP00000361845:I198S	ENSP00000361845:I198S	I	+	2	0	ZMPSTE24	40508352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.191000	0.70037	0.528000	0.53228	ATT		0.328	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			6	252	0	0	0	1	0	6	252				
SLC18A2	6571	broad.mit.edu	37	10	119015149	119015149	+	Silent	SNP	G	G	A	rs149854149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119015149G>A	ENST00000298472.5	+	9	1019	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	292					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGAAGGACCCGTACATCCTCA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		13744	0.001		0.0	False		,,,				2504	0.0					ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(874-876)ccG>ccA		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	G		6,4400	11.4+/-27.6	0,6,2197	51.0	50.0	50.0		876	-10.1	0.0	10	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	SLC18A2	NM_003054.4		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		292/515	119015149	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119015149G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.876G>A	10.37:g.119015149G>A						SLC18A2_ENST00000497497.1_3'UTR	p.P292P	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	9	1019	+		Colorectal(252;0.19)	292					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.876G>A	CCDS7599.1																																																																																				0.617	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		13	21	0	0	0	1	0	13	21				
IFFO2	126917	broad.mit.edu	37	1	19236951	19236951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19236951C>A	ENST00000455833.2	-	8	1686	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	RP13-279N23.2_ENST00000494072.3_Missense_Mutation_p.S223I	NM_001136265.1	NP_001129737.1	Q5TF58	IFFO2_HUMAN	intermediate filament family orphan 2	445						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)	2						TCACTTTTGGCTGTGGCCAGC	0.572																																						ENST00000455833.2																			0				endometrium(1)|kidney(1)	2						c.(1333-1335)Gcc>Tcc		intermediate filament family orphan 2							109.0	106.0	107.0					1																	19236951		692	1591	2283	SO:0001583	missense	126917							g.chr1:19236951C>A	AK024480, AL080251	CCDS44076.1	1p36.13	2013-10-11			ENSG00000169991	ENSG00000169991		"""Intermediate filament family orphans"""	27006	protein-coding gene	gene with protein product						14702039	Standard	NM_001136265		Approved		uc001bbd.2	Q5TF58	OTTHUMG00000002499	ENST00000455833.2:c.1333G>T	1.37:g.19236951C>A	ENSP00000387941:p.Ala445Ser					RP13-279N23.2_ENST00000494072.3_Missense_Mutation_p.S223I	p.A445S	NM_001136265.1	NP_001129737.1	Q5TF58	IFFO2_HUMAN			8	1686	-			445					Q9H7K0	Missense_Mutation	SNP	ENST00000455833.2	37	c.1333G>T	CCDS44076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.875815|4.875815	0.91664|0.91664	.|.	.|.	ENSG00000169991|ENSG00000169991	ENST00000304963;ENST00000455833;ENST00000355609|ENST00000416166	D;T|.	0.89270|.	-2.49;2.5|.	4.32|4.32	4.32|4.32	0.51571|0.51571	Filament (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79575|0.79575	0.4469|0.4469	M|M	0.87180|0.87180	2.865|2.865	0.51233|0.51233	D|D	0.999912|0.999912	D|.	0.69078|.	0.997|.	D|.	0.80764|.	0.994|.	T|T	0.83134|0.83134	-0.0112|-0.0112	10|5	0.72032|.	D|.	0.01|.	.|.	15.9368|15.9368	0.79717|0.79717	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	445|.	Q5TF58|.	IFFO2_HUMAN|.	S|H	389;445;16|186	ENSP00000387941:A445S;ENSP00000347820:A16S|.	ENSP00000305144:A389S|.	A|Q	-|-	1|3	0|2	IFFO2|IFFO2	19109538|19109538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.646000|7.646000	0.83445|0.83445	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	GCC|CAG		0.572	IFFO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007099.2	NM_001136265		4	19	1	0	0.00909568	1	0.00947522	4	19				
PAPOLA	10914	broad.mit.edu	37	14	96986534	96986534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96986534G>A	ENST00000216277.8	+	2	371	c.151G>A	c.(151-153)Gtt>Att	p.V51I	PAPOLA_ENST00000392990.2_Missense_Mutation_p.V51I|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000557320.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000557471.1_Missense_Mutation_p.V51I	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	51					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCTTTGGGGTTTTTGAAGA	0.383																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(151-153)Gtt>Att		poly(A) polymerase alpha							77.0	74.0	75.0					14																	96986534		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96986534G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.151G>A	14.37:g.96986534G>A	ENSP00000216277:p.Val51Ile					PAPOLA_ENST00000557320.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000557471.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.V51I	p.V51I	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	2	371	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	51					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.151G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455000	0.84209	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	4.94	4.94	0.65067	Poly(A) polymerase, central domain (1);	0.199989	0.42172	D	0.000749	T	0.76688	0.4022	M	0.75264	2.295	0.80722	D	1	P;P;P;B;P	0.49358	0.787;0.923;0.822;0.156;0.822	P;P;P;B;P	0.57960	0.532;0.83;0.662;0.053;0.662	T	0.78071	-0.2347	9	0.49607	T	0.09	.	18.5341	0.91002	0.0:0.0:1.0:0.0	.	67;67;51;51;67	F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.;.;PAPOA_HUMAN;.;.	I	51;51;67;51;51;51	.	ENSP00000216277:V51I	V	+	1	0	PAPOLA	96056287	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.626000	0.98410	2.455000	0.83008	0.650000	0.86243	GTT		0.383	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			11	81	0	0	0	1	0	11	81				
BRDT	676	broad.mit.edu	37	1	92446488	92446488	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92446488T>C	ENST00000362005.3	+	11	1921	c.1503T>C	c.(1501-1503)tcT>tcC	p.S501S	BRDT_ENST00000402388.1_Silent_p.S501S|BRDT_ENST00000399546.2_Silent_p.S501S|BRDT_ENST00000394530.3_Silent_p.S455S|BRDT_ENST00000370389.2_Silent_p.S428S	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	501	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCTAAAATCTGAAGATGAAG	0.333																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1282-1284)tcT>tcC		bromodomain, testis-specific							73.0	72.0	72.0					1																	92446488		2203	4300	6503	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446488T>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1503T>C	1.37:g.92446488T>C						BRDT_ENST00000399546.2_Silent_p.S501S|BRDT_ENST00000402388.1_Silent_p.S501S|BRDT_ENST00000394530.3_Silent_p.S455S|BRDT_ENST00000362005.3_Silent_p.S501S	p.S428S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	2208	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	501					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.1284T>C	CCDS735.1																																																																																				0.333	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		12	61	0	0	0	1	0	12	61				
PTPRCAP	5790	broad.mit.edu	37	11	67203585	67203585	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67203585G>T	ENST00000326294.3	-	2	687	c.240C>A	c.(238-240)cgC>cgA	p.R80R	CORO1B_ENST00000539724.1_5'Flank|AP003419.16_ENST00000535922.1_RNA	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	80					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCCAGAGCAGGCGCCGCGTGC	0.711																																						ENST00000326294.3																			0				skin(1)|upper_aerodigestive_tract(1)	2						c.(238-240)cgC>cgA		protein tyrosine phosphatase, receptor type, C-associated protein							17.0	15.0	16.0					11																	67203585		2164	4195	6359	SO:0001819	synonymous_variant	5790				defense response	integral to membrane|plasma membrane		g.chr11:67203585G>T		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.240C>A	11.37:g.67203585G>T							p.R80R	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	687	-			80					B2R512|O00643|Q6I9S6	Silent	SNP	ENST00000326294.3	37	c.240C>A	CCDS8163.1																																																																																				0.711	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317563.1	NM_005608		6	11	1	0	0.00116845	1	0.00124821	6	11				
SYT14	255928	broad.mit.edu	37	1	210273780	210273780	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210273780A>G	ENST00000472886.1	+	6	1152	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	SYT14_ENST00000534859.1_Missense_Mutation_p.I380V|SYT14_ENST00000399639.2_Missense_Mutation_p.I380V|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000422431.1_Missense_Mutation_p.I425V|SYT14_ENST00000537238.1_Missense_Mutation_p.I342V|SYT14_ENST00000367015.1_Missense_Mutation_p.I342V|SYT14_ENST00000367019.1_Missense_Mutation_p.I380V			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	380					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATTGCCTGTGATATTGGAACC	0.313																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(1024-1026)Ata>Gta		synaptotagmin XIV							39.0	41.0	41.0					1																	210273780		2200	4265	6465	SO:0001583	missense	255928					integral to membrane		g.chr1:210273780A>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1138A>G	1.37:g.210273780A>G	ENSP00000418901:p.Ile380Val					SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Missense_Mutation_p.I380V|SYT14_ENST00000534859.1_Missense_Mutation_p.I380V|SYT14_ENST00000422431.1_Missense_Mutation_p.I425V|SYT14_ENST00000367015.1_Missense_Mutation_p.I342V|SYT14_ENST00000367019.1_Missense_Mutation_p.I380V|SYT14_ENST00000472886.1_Missense_Mutation_p.I380V	p.I342V	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	7	1415	+			380			C2 1.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1024A>G	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	3.023	-0.201322	0.06219	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17	6.07	6.07	0.98685	C2 calcium/lipid-binding domain, CaLB (1);	0.181927	0.64402	D	0.000017	T	0.03520	0.0101	N	0.03608	-0.345	0.41458	D	0.988029	B;B;B;B	0.10296	0.0;0.0;0.003;0.001	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.40478	-0.9561	10	0.07482	T	0.82	-14.5605	10.8915	0.46998	0.9303:0.0:0.0697:0.0	.	408;380;380;425	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	V	425;380;380;342;380;380;342	ENSP00000389039:I425V;ENSP00000442891:I380V;ENSP00000445837:I380V;ENSP00000437423:I342V;ENSP00000355986:I380V;ENSP00000418901:I380V;ENSP00000355982:I342V	ENSP00000355982:I342V	I	+	1	0	SYT14	208340403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.792000	0.75125	2.326000	0.78906	0.528000	0.53228	ATA		0.313	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		23	47	0	0	0	1	0	23	47				
HLA-DMA	3108	broad.mit.edu	37	6	32917135	32917135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32917135G>T	ENST00000374843.4	-	4	779	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	HLA-DMA_ENST00000395303.3_Missense_Mutation_p.L198M|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.L137M|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	232	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						ACGCCACACAGCACATTCTCC	0.582																																						ENST00000374843.4																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(694-696)Ctg>Atg		major histocompatibility complex, class II, DM alpha							87.0	81.0	83.0					6																	32917135		2203	4300	6503	SO:0001583	missense	3108					integral to membrane|MHC class II protein complex		g.chr6:32917135G>T		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.694C>A	6.37:g.32917135G>T	ENSP00000363976:p.Leu232Met					XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.L198M|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.L137M	p.L232M	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			4	779	-			232					Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	c.694C>A	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444267	0.63178	.	.	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	T;T;T;T	0.01804	5.24;4.63;5.73;5.68	5.0	3.0	0.34707	.	0.125618	0.53938	D	0.000041	T	0.03263	0.0095	M	0.71581	2.175	0.27698	N	0.94588	D	0.89917	1.0	D	0.87578	0.998	T	0.23619	-1.0183	10	0.72032	D	0.01	.	7.1007	0.25336	0.2125:0.0:0.7875:0.0	.	232	Q31604	.	M	137;198;232;262	ENSP00000378716:L137M;ENSP00000378714:L198M;ENSP00000363976:L232M;ENSP00000409668:L262M	ENSP00000363976:L232M	L	-	1	2	HLA-DMA	33025113	0.971000	0.33674	1.000000	0.80357	0.934000	0.57294	1.075000	0.30716	1.307000	0.44944	0.551000	0.68910	CTG		0.582	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		13	9	1	0	4.3838e-07	1	5.12524e-07	13	9				
PLEKHM2	23207	broad.mit.edu	37	1	16060322	16060322	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16060322G>A	ENST00000375799.3	+	20	3180	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	SLC25A34_ENST00000294454.5_5'Flank|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A965T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	985					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATCCAGGAAGCCTCCAACAA	0.637																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2953-2955)Gcc>Acc		pleckstrin homology domain containing, family M (with RUN domain) member 2							76.0	86.0	83.0					1																	16060322		2074	4202	6276	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16060322G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2953G>A	1.37:g.16060322G>A	ENSP00000364956:p.Ala985Thr					PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A965T	p.A985T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	20	3180	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	985					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2953G>A	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465320	0.43839	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.46063	0.89;0.88	5.62	2.3	0.28687	.	0.474372	0.21684	N	0.070680	T	0.25232	0.0613	N	0.17082	0.46	0.30895	N	0.729957	B	0.06786	0.001	B	0.04013	0.001	T	0.16100	-1.0414	10	0.33141	T	0.24	-11.7371	10.7545	0.46228	0.235:0.0:0.765:0.0	.	985	Q8IWE5	PKHM2_HUMAN	T	985;965	ENSP00000364956:A985T;ENSP00000364950:A965T	ENSP00000364950:A965T	A	+	1	0	PLEKHM2	15932909	0.032000	0.19561	1.000000	0.80357	0.708000	0.40852	1.386000	0.34419	0.735000	0.32537	-0.136000	0.14681	GCC		0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		20	37	0	0	0	1	0	20	37				
ZNF442	79973	broad.mit.edu	37	19	12460635	12460635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12460635T>C	ENST00000242804.4	-	6	2346	c.1764A>G	c.(1762-1764)cgA>cgG	p.R588R	ZNF442_ENST00000438182.1_Silent_p.R519R|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTCATGTCCTCGAAGGAAAC	0.428																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1762-1764)cgA>cgG		zinc finger protein 442							117.0	103.0	108.0					19																	12460635		2203	4300	6503	SO:0001819	synonymous_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12460635T>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1764A>G	19.37:g.12460635T>C						ZNF442_ENST00000438182.1_Silent_p.R519R	p.R588R	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	2346	-			588					B4DJ48	Silent	SNP	ENST00000242804.4	37	c.1764A>G	CCDS12271.1																																																																																				0.428	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		12	94	0	0	0	1	0	12	94				
OBSCN	84033	broad.mit.edu	37	1	228528510	228528510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228528510G>A	ENST00000422127.1	+	72	17662	c.17618G>A	c.(17617-17619)cGc>cAc	p.R5873H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5873H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2992H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6830H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3507H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5873	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCACAGCGCGCTGAGAAC	0.687																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(20488-20490)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							14.0	18.0	17.0					1																	228528510		2036	4180	6216	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228528510G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17618G>A	1.37:g.228528510G>A	ENSP00000409493:p.Arg5873His					OBSCN_ENST00000366707.4_Missense_Mutation_p.R3507H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2992H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5873H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5873H	p.R6830H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			83	20563	+		Prostate(94;0.0405)	5873					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20489G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838362	0.91117	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.04	5.04	0.67666	Dbl homology (DH) domain (3);	0.072997	0.53938	D	0.000054	T	0.51363	0.1670	L	0.53249	1.67	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.973	T	0.52124	-0.8617	10	0.87932	D	0	.	16.7397	0.85456	0.0:0.0:1.0:0.0	.	5873;5873	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5873;5873;3507;2992	ENSP00000284548:R5873H;ENSP00000409493:R5873H;ENSP00000355668:R3507H;ENSP00000355670:R2992H	ENSP00000284548:R5873H	R	+	2	0	OBSCN	226595133	1.000000	0.71417	0.922000	0.36590	0.144000	0.21451	7.733000	0.84916	2.634000	0.89283	0.555000	0.69702	CGC		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	3	0	0	0	1	0	4	3				
SLC38A6	145389	broad.mit.edu	37	14	61518548	61518548	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61518548T>C	ENST00000267488.4	+	14	1210	c.1094T>C	c.(1093-1095)tTc>tCc	p.F365S	SLC38A6_ENST00000354886.2_Missense_Mutation_p.F365S|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F342S	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	365					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AATTTTCCATTCTCATGGATT	0.323																																						ENST00000354886.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.(1093-1095)tTc>tCc		solute carrier family 38, member 6							147.0	139.0	142.0					14																	61518548		2203	4300	6503	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61518548T>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1094T>C	14.37:g.61518548T>C	ENSP00000267488:p.Phe365Ser					SLC38A6_ENST00000267488.4_Missense_Mutation_p.F365S|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F342S	p.F365S	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	14	1258	+			365					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.1094T>C	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739495	0.49045	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	6.02	6.02	0.97574	.	0.046626	0.85682	D	0.000000	T	0.19248	0.0462	M	0.88377	2.95	0.44871	D	0.997885	D;D;D	0.67145	0.996;0.995;0.993	D;D;D	0.69479	0.964;0.954;0.909	T	0.00585	-1.1658	10	0.87932	D	0	.	16.2035	0.82105	0.0:0.0:0.0:1.0	.	342;365;365	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	S	365;365;360;342;138	ENSP00000346959:F365S;ENSP00000267488:F365S;ENSP00000395851:F360S;ENSP00000413863:F342S;ENSP00000437190:F138S	ENSP00000267488:F365S	F	+	2	0	SLC38A6	60588301	0.999000	0.42202	0.971000	0.41717	0.212000	0.24457	2.425000	0.44723	2.304000	0.77564	0.528000	0.53228	TTC		0.323	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			5	77	0	0	0	1	0	5	77				
SERPINB1	1992	broad.mit.edu	37	6	2840777	2840777	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2840777A>G	ENST00000380739.5	-	2	246	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	15					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CGCCAGGAACAGGTCCAAGGC	0.547																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(43-45)cTg>cCg		serpin peptidase inhibitor, clade B (ovalbumin), member 1							91.0	87.0	88.0					6																	2840777		2203	4300	6503	SO:0001583	missense	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2840777A>G	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.44T>C	6.37:g.2840777A>G	ENSP00000370115:p.Leu15Pro					SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR	p.L15P			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	2	246	-	Ovarian(93;0.0412)		15					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	c.44T>C	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636335	0.87760	.	.	ENSG00000021355	ENST00000380739	D	0.90844	-2.74	4.91	4.91	0.64330	Serpin domain (3);	0.069476	0.64402	D	0.000016	D	0.95487	0.8534	H	0.98487	4.245	0.80722	D	1	P	0.52692	0.955	P	0.52217	0.693	D	0.96814	0.9599	10	0.87932	D	0	.	14.0447	0.64698	1.0:0.0:0.0:0.0	.	15	P30740	ILEU_HUMAN	P	15	ENSP00000370115:L15P	ENSP00000370115:L15P	L	-	2	0	SERPINB1	2785776	0.976000	0.34144	0.958000	0.39756	0.940000	0.58332	8.691000	0.91279	1.973000	0.57446	0.459000	0.35465	CTG		0.547	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			11	31	0	0	0	1	0	11	31				
GPRIN1	114787	broad.mit.edu	37	5	176025059	176025059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025059C>T	ENST00000303991.4	-	2	1954	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	593					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGGACACGGGATCCACC	0.572																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1777-1779)Gtg>Atg		G protein regulated inducer of neurite outgrowth 1							77.0	79.0	78.0					5																	176025059		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176025059C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1777G>A	5.37:g.176025059C>T	ENSP00000305839:p.Val593Met						p.V593M	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1954	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	593					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.1777G>A	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148115	0.37923	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.10192	2.9	3.51	0.982	0.19762	.	1.621530	0.04199	N	0.329712	T	0.10766	0.0263	L	0.45137	1.4	0.09310	N	1	B	0.24675	0.109	B	0.09377	0.004	T	0.33828	-0.9853	10	0.46703	T	0.11	1.4425	6.3443	0.21341	0.0:0.6597:0.0:0.3403	.	593	Q7Z2K8	GRIN1_HUMAN	M	593	ENSP00000305839:V593M	ENSP00000305839:V593M	V	-	1	0	GPRIN1	175957665	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.821000	0.04452	-0.250000	0.09555	0.455000	0.32223	GTG		0.572	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		32	46	0	0	0	1	0	32	46				
TRAF4	9618	broad.mit.edu	37	17	27075049	27075049	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27075049C>A	ENST00000262395.5	+	4	444	c.315C>A	c.(313-315)acC>acA	p.T105T	TRAF4_ENST00000262396.6_Silent_p.T105T|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Silent_p.T105T|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	105					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACCTGAATACCTGCAGCTTCA	0.592																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(313-315)acC>acA		TNF receptor-associated factor 4							104.0	100.0	101.0					17																	27075049		2203	4300	6503	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27075049C>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.315C>A	17.37:g.27075049C>A						TRAF4_ENST00000262396.6_Silent_p.T105T|TRAF4_ENST00000444415.3_Silent_p.T105T	p.T105T	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		4	444	+	Lung NSC(42;0.01)		105					O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.315C>A	CCDS11243.1																																																																																				0.592	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		4	40	1	0	0.00024832	1	0.0002712	4	40				
XYLT2	64132	broad.mit.edu	37	17	48433533	48433533	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48433533C>G	ENST00000017003.2	+	7	1442	c.1393C>G	c.(1393-1395)Ctg>Gtg	p.L465V	XYLT2_ENST00000507602.1_Missense_Mutation_p.L465V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	465					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GAACCGCAAGCTGGGCTGCAA	0.602																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1393-1395)Ctg>Gtg		xylosyltransferase II							93.0	83.0	86.0					17																	48433533		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48433533C>G	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1393C>G	17.37:g.48433533C>G	ENSP00000017003:p.Leu465Val					XYLT2_ENST00000507602.1_Missense_Mutation_p.L465V	p.L465V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			7	1442	+	Breast(11;7.18e-19)		465					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.1393C>G	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068756	0.55539	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11385	2.78;2.78	4.75	2.72	0.32119	.	0.000000	0.64402	D	0.000003	T	0.24736	0.0600	M	0.85542	2.76	0.54753	D	0.999982	P	0.48503	0.911	P	0.52481	0.7	T	0.06303	-1.0834	10	0.32370	T	0.25	-14.5946	10.9841	0.47513	0.0:0.8463:0.0:0.1537	.	465	Q9H1B5	XYLT2_HUMAN	V	465	ENSP00000017003:L465V;ENSP00000426501:L465V	ENSP00000017003:L465V	L	+	1	2	XYLT2	45788532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.958000	0.56737	1.238000	0.43771	0.563000	0.77884	CTG		0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	51	0	0	0	1	0	5	51				
RELN	5649	broad.mit.edu	37	7	103293192	103293192	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103293192A>G	ENST00000428762.1	-	14	1728	c.1569T>C	c.(1567-1569)gtT>gtC	p.V523V	RELN_ENST00000424685.2_Silent_p.V523V|RELN_ENST00000343529.5_Silent_p.V523V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	523					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCACAGAAACCAAAGACG	0.413																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1567-1569)gtT>gtC		reelin							91.0	93.0	92.0					7																	103293192		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103293192A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1569T>C	7.37:g.103293192A>G						RELN_ENST00000424685.2_Silent_p.V523V|RELN_ENST00000343529.5_Silent_p.V523V	p.V523V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	14	1728	-			523					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1569T>C	CCDS47680.1																																																																																				0.413	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		8	119	0	0	0	1	0	8	119				
P2RY6	5031	broad.mit.edu	37	11	73007689	73007689	+	Silent	SNP	G	G	A	rs372740341		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007689G>A	ENST00000393590.2	+	2	425	c.126G>A	c.(124-126)ccG>ccA	p.P42P	P2RY6_ENST00000538328.1_Silent_p.P42P|P2RY6_ENST00000540342.1_Silent_p.P42P|P2RY6_ENST00000393591.1_Silent_p.P42P|P2RY6_ENST00000540124.1_Silent_p.P42P|P2RY6_ENST00000542092.1_Silent_p.P42P|P2RY6_ENST00000393592.2_Silent_p.P42P|P2RY6_ENST00000349767.2_Silent_p.P42P	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	42					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTGGCCTGCCGCTGAACATCT	0.617																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(124-126)ccG>ccA		pyrimidinergic receptor P2Y, G-protein coupled, 6		G	,,,	1,4399	2.1+/-5.4	0,1,2199	122.0	131.0	128.0		126,126,126,126	-8.6	0.7	11		128	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	P2RY6	NM_004154.3,NM_176796.1,NM_176797.1,NM_176798.1	,,,	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	,,,	42/329,42/329,42/329,42/329	73007689	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007689G>A		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.126G>A	11.37:g.73007689G>A						P2RY6_ENST00000542092.1_Silent_p.P42P|P2RY6_ENST00000349767.2_Silent_p.P42P|P2RY6_ENST00000540342.1_Silent_p.P42P|P2RY6_ENST00000540124.1_Silent_p.P42P|P2RY6_ENST00000393592.2_Silent_p.P42P|P2RY6_ENST00000393591.1_Silent_p.P42P|P2RY6_ENST00000538328.1_Silent_p.P42P	p.P42P	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	425	+			42					Q15754	Silent	SNP	ENST00000393590.2	37	c.126G>A	CCDS8220.1																																																																																				0.617	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			68	79	0	0	0	1	0	68	79				
ARHGAP33	115703	broad.mit.edu	37	19	36272095	36272095	+	Silent	SNP	C	C	T	rs374408368		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36272095C>T	ENST00000007510.4	+	12	1170	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	ARHGAP33_ENST00000378944.5_Silent_p.H206H|ARHGAP33_ENST00000314737.5_Silent_p.H342H			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	342	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.H342H(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGAGGCCCACGGGGTGGTGG	0.647																																						ENST00000007510.4																			1	Substitution - coding silent(1)	p.H342H(1)	endometrium(1)	endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1024-1026)caC>caT		Rho GTPase activating protein 33		C	,	0,4406		0,0,2203	77.0	76.0	76.0		618,1026	-8.9	0.8	19		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARHGAP33	NM_001172630.1,NM_052948.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	206/1124,342/1127	36272095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36272095C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1026C>T	19.37:g.36272095C>T						ARHGAP33_ENST00000378944.5_Silent_p.H206H|ARHGAP33_ENST00000314737.5_Silent_p.H342H	p.H342H			O14559	RHG33_HUMAN			12	1170	+			342			Rho-GAP.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.1026C>T																																																																																					0.647	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		20	49	0	0	0	1	0	20	49				
CCDC39	339829	broad.mit.edu	37	3	180377294	180377294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180377294C>T	ENST00000442201.2	-	6	803	c.684G>A	c.(682-684)gaG>gaA	p.E228E	CCDC39_ENST00000273654.4_Silent_p.E312E	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	228					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTATTGTGTTCTCCCATTGTT	0.368																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(934-936)gaG>gaA		coiled-coil domain containing 39							273.0	252.0	259.0					3																	180377294		1892	4119	6011	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180377294C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.684G>A	3.37:g.180377294C>T						CCDC39_ENST00000442201.2_Silent_p.E228E	p.E312E			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1555	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		228					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.936G>A	CCDS46964.1																																																																																				0.368	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		34	52	0	0	0	1	0	34	52				
TBC1D14	57533	broad.mit.edu	37	4	7002978	7002978	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7002978G>A	ENST00000409757.4	+	7	1394	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	TBC1D14_ENST00000448507.1_Splice_Site_p.E424K|AC097382.5_ENST00000441093.1_RNA|TBC1D14_ENST00000410031.1_Splice_Site_p.E196K|TBC1D14_ENST00000451522.2_Splice_Site_p.E144K|TBC1D14_ENST00000446947.2_Splice_Site_p.E37K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	424	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TATCACCCACGGTGAGTGGCC	0.517																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.e7+1		TBC1 domain family, member 14							91.0	76.0	81.0					4																	7002978		2203	4300	6503	SO:0001630	splice_region_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:7002978G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1270+1G>A	4.37:g.7002978G>A						TBC1D14_ENST00000446947.2_Splice_Site_p.E37_splice|TBC1D14_ENST00000410031.1_Splice_Site_p.E196_splice|TBC1D14_ENST00000448507.1_Splice_Site_p.E424_splice|TBC1D14_ENST00000451522.2_Splice_Site_p.E144_splice	p.E424_splice	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			7	1394	+			424			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Splice_Site	SNP	ENST00000409757.4	37	c.1270_splice	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	32	5.112061	0.94339	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65;3.65	5.97	5.97	0.96955	Rab-GAP/TBC domain (4);	0.098576	0.64402	D	0.000002	T	0.09949	0.0244	M	0.75150	2.29	0.80722	D	1	P;B;P	0.46952	0.887;0.115;0.659	B;B;B	0.38020	0.263;0.033;0.148	T	0.02307	-1.1179	10	0.52906	T	0.07	-25.9047	19.4161	0.94700	0.0:0.0:1.0:0.0	.	37;144;424	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	K	424;424;196;144;43;37	ENSP00000404041:E424K;ENSP00000386921:E424K;ENSP00000386343:E196K;ENSP00000388886:E144K;ENSP00000389082:E43K;ENSP00000405875:E37K	ENSP00000386921:E424K	E	+	1	0	TBC1D14	7053879	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.289000	0.96061	2.837000	0.97791	0.655000	0.94253	GAG		0.517	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773	Missense_Mutation	4	17	0	0	0	1	0	4	17				
MYO5A	4644	broad.mit.edu	37	15	52613635	52613635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52613635C>T	ENST00000399231.3	-	37	5040	c.4797G>A	c.(4795-4797)cgG>cgA	p.R1599R	MYO5A_ENST00000399233.2_Silent_p.R1596R|MYO5A_ENST00000356338.6_Silent_p.R1572R|MYO5A_ENST00000553916.1_Silent_p.R1597R|MYO5A_ENST00000358212.6_Silent_p.R1624R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1599	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCAGCACCTGCCGATACTCAG	0.502																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(4795-4797)cgG>cgA		myosin VA (heavy chain 12, myoxin)							135.0	138.0	137.0					15																	52613635		2024	4185	6209	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52613635C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4797G>A	15.37:g.52613635C>T						MYO5A_ENST00000553916.1_Silent_p.R1597R|MYO5A_ENST00000358212.6_Silent_p.R1624R|MYO5A_ENST00000356338.6_Silent_p.R1572R|MYO5A_ENST00000399233.2_Silent_p.R1596R	p.R1599R	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	37	5040	-			1599			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.4797G>A	CCDS42037.1																																																																																				0.502	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		45	51	0	0	0	1	0	45	51				
ST13	6767	broad.mit.edu	37	22	41223100	41223100	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41223100C>A	ENST00000216218.3	-	11	1462	c.981G>T	c.(979-981)caG>caT	p.Q327H		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	327	STI1.				chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAAGTCTTACCTGCATGGCTG	0.428																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.e11+1		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							86.0	88.0	88.0					22																	41223100		2203	4300	6503	SO:0001630	splice_region_variant	6767						protein binding, bridging	g.chr22:41223100C>A		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.981+1G>T	22.37:g.41223100C>A							p.Q327_splice	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			11	1462	-			327			STI1.		O14999|Q2TU77	Splice_Site	SNP	ENST00000216218.3	37	c.981_splice	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292633	0.80914	.	.	ENSG00000100380	ENST00000216218	T	0.41758	0.99	5.46	4.44	0.53790	Heat shock chaperonin-binding (1);	0.049430	0.85682	D	0.000000	T	0.50854	0.1640	M	0.88105	2.93	0.58432	D	0.999999	P;P	0.44090	0.826;0.826	B;B	0.38562	0.276;0.276	T	0.63005	-0.6733	9	.	.	.	.	15.741	0.77894	0.1376:0.8624:0.0:0.0	.	317;327	B4E0U6;P50502	.;F10A1_HUMAN	H	327	ENSP00000216218:Q327H	.	Q	-	3	2	ST13	39553046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.162000	0.50755	1.308000	0.44962	0.555000	0.69702	CAG		0.428	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932	Missense_Mutation	7	50	1	0	8.12818e-05	1	8.99451e-05	7	50				
MLH3	27030	broad.mit.edu	37	14	75513291	75513291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75513291C>A	ENST00000556740.1	-	1	3103	c.3068G>T	c.(3067-3069)aGt>aTt	p.S1023I	MLH3_ENST00000355774.2_Missense_Mutation_p.S1023I|MLH3_ENST00000238662.7_Missense_Mutation_p.S1023I|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.S18I|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.S1023I			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1023					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGATTCCTCACTCTGAAAACA	0.443								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3067-3069)aGt>aTt	Mismatch excision repair (MMR)	mutL homolog 3							125.0	118.0	120.0					14																	75513291		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75513291C>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3068G>T	14.37:g.75513291C>A	ENSP00000452316:p.Ser1023Ile					MLH3_ENST00000556257.1_Missense_Mutation_p.S1023I|MLH3_ENST00000556740.1_Missense_Mutation_p.S1023I|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.S1023I|MLH3_ENST00000544985.1_Missense_Mutation_p.S18I|MLH3_ENST00000380968.2_5'UTR	p.S1023I	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	3283	-			1023					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3068G>T	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.275383|1.275383	0.23307|0.23307	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985|ENST00000553713	T;T;T;T;T|.	0.81415|.	-1.44;-1.44;-1.49;-1.44;0.4|.	5.49|5.49	-1.2|-1.2	0.09554|0.09554	.|.	0.979742|.	0.08391|.	N|.	0.952885|.	T|T	0.44159|0.44159	0.1280|0.1280	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	D;P|.	0.53151|.	0.958;0.877|.	P;B|.	0.44990|.	0.466;0.276|.	T|T	0.43491|0.43491	-0.9388|-0.9388	10|5	0.62326|.	D|.	0.03|.	-0.0093|-0.0093	7.4684|7.4684	0.27334|0.27334	0.0:0.4357:0.352:0.2123|0.0:0.4357:0.352:0.2123	.|.	1023;1023|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	I|L	1023;1023;1023;1023;18|80	ENSP00000348020:S1023I;ENSP00000238662:S1023I;ENSP00000451540:S1023I;ENSP00000452316:S1023I;ENSP00000441371:S18I|.	ENSP00000238662:S1023I|.	S|V	-|-	2|1	0|0	MLH3|MLH3	74583044|74583044	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.011000|-0.011000	0.12721|0.12721	-0.088000|-0.088000	0.12506|0.12506	-0.929000|-0.929000	0.02709|0.02709	AGT|GTG		0.443	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		10	135	1	0	3.07112e-06	1	3.52574e-06	10	135				
NT5C3B	115024	broad.mit.edu	37	17	39992198	39992198	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39992198C>A	ENST00000435506.2	-	2	93	c.24G>T	c.(22-24)ctG>ctT	p.L8L	KLHL10_ENST00000293303.4_5'Flank|NT5C3B_ENST00000269534.8_5'UTR|NT5C3B_ENST00000521789.1_Intron|RN7SL871P_ENST00000583512.1_RNA			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	8					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TGGCCTTCATCAGGGTGCTCA	0.726																																						ENST00000435506.2																			0											c.(22-24)ctG>ctT		5'-nucleotidase, cytosolic IIIB							14.0	15.0	15.0					17																	39992198		2189	4284	6473	SO:0001819	synonymous_variant	115024							g.chr17:39992198C>A		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.24G>T	17.37:g.39992198C>A						NT5C3B_ENST00000521789.1_Intron|NT5C3B_ENST00000269534.8_5'UTR	p.L8L							2	93	-								A8MWB9|C9JKC4|Q7L3B7	Silent	SNP	ENST00000435506.2	37	c.24G>T	CCDS11410.2																																																																																				0.726	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		3	2	1	0	0.115264	1	0.117355	3	2				
SNX17	9784	broad.mit.edu	37	2	27599026	27599026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27599026G>T	ENST00000233575.2	+	12	1380	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	SNX17_ENST00000542478.1_Missense_Mutation_p.K172N|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.K361N|SNX17_ENST00000543024.1_Missense_Mutation_p.K172N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	386	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGGTGAAGAAATCTGGCG	0.512																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1156-1158)aaG>aaT		sorting nexin 17							138.0	129.0	132.0					2																	27599026		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599026G>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1158G>T	2.37:g.27599026G>T	ENSP00000233575:p.Lys386Asn					SNX17_ENST00000543024.1_Missense_Mutation_p.K172N|SNX17_ENST00000537606.1_Missense_Mutation_p.K361N|SNX17_ENST00000542478.1_Missense_Mutation_p.K172N	p.K386N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			12	1380	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		386					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.1158G>T	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312284	0.60414	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.35605	1.78;1.3;1.36;1.3	5.88	4.83	0.62350	.	0.079899	0.85682	D	0.000000	T	0.55673	0.1935	M	0.78049	2.395	0.80722	D	1	D;D;P;D	0.69078	0.987;0.985;0.895;0.997	P;P;P;D	0.63033	0.737;0.724;0.535;0.91	T	0.54774	-0.8243	10	0.44086	T	0.13	-18.7256	11.8144	0.52202	0.1238:0.0:0.8762:0.0	.	361;374;366;386	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	386;172;361;172	ENSP00000233575:K386N;ENSP00000441779:K172N;ENSP00000439208:K361N;ENSP00000442567:K172N	ENSP00000233575:K386N	K	+	3	2	SNX17	27452530	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.900000	0.48687	2.797000	0.96272	0.561000	0.74099	AAG		0.512	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		11	102	1	0	4.68919e-08	1	5.58064e-08	11	102				
CYSTM1	84418	broad.mit.edu	37	5	139574094	139574094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139574094C>T	ENST00000261811.4	+	2	708	c.44C>T	c.(43-45)aCg>aTg	p.T15M	CYSTM1_ENST00000509789.2_Intron|AC011379.1_ENST00000583981.1_RNA	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	15	Pro-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCTGGTCCAACGGCCCCATAC	0.517																																						ENST00000261811.4																			0											c.(43-45)aCg>aTg		cysteine-rich transmembrane module containing 1							122.0	121.0	121.0					5																	139574094		2203	4300	6503	SO:0001583	missense	84418							g.chr5:139574094C>T	AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 32"""	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.44C>T	5.37:g.139574094C>T	ENSP00000261811:p.Thr15Met					CYSTM1_ENST00000509789.2_Intron	p.T15M	NM_032412.3	NP_115788.1	Q9H1C7	CE032_HUMAN			2	708	+			15			Pro-rich.		Q8TBA5	Missense_Mutation	SNP	ENST00000261811.4	37	c.44C>T	CCDS4221.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861721	0.51482	.	.	ENSG00000120306	ENST00000261811	T	0.44881	0.91	5.37	4.5	0.54988	.	1.098420	0.06726	N	0.775722	T	0.33323	0.0859	.	.	.	0.24554	N	0.994004	B	0.31351	0.32	B	0.24006	0.05	T	0.23583	-1.0184	9	0.45353	T	0.12	-2.5941	11.0395	0.47823	0.0:0.9126:0.0:0.0874	.	15	Q9H1C7	CE032_HUMAN	M	15	ENSP00000261811:T15M	ENSP00000261811:T15M	T	+	2	0	C5orf32	139554278	0.007000	0.16637	0.835000	0.33067	0.999000	0.98932	2.144000	0.42197	1.273000	0.44346	0.655000	0.94253	ACG		0.517	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251342.2	NM_032412		32	68	0	0	0	1	0	32	68				
ZFP36L1	677	broad.mit.edu	37	14	69262515	69262515	+	5'Flank	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69262515T>G	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000408913.2_Missense_Mutation_p.K166T|ZFP36L1_ENST00000336440.3_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAAACGTCATTTCGGGGACTT	0.592																																						ENST00000408913.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(496-498)aAa>aCa		ZFP36 ring finger protein-like 1							45.0	55.0	52.0					14																	69262515		2177	4226	6403	SO:0001631	upstream_gene_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69262515T>G	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262515T>G	Exception_encountered						p.K166T			Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	675	-			0					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.497A>C	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940230	0.52972	.	.	ENSG00000185650	ENST00000408913	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.20638	N	0.999874	.	.	.	.	.	.	T	0.39941	-0.9589	5	0.87932	D	0	.	10.5596	0.45138	0.0:0.0:0.0:1.0	.	.	.	.	T	166	.	ENSP00000386220:K166T	K	-	2	0	ZFP36L1	68332268	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.171000	0.64996	1.683000	0.51011	0.260000	0.18958	AAA		0.592	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			14	65	0	0	0	1	0	14	65				
HNRNPD	3184	broad.mit.edu	37	4	83279852	83279852	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279852G>T	ENST00000313899.7	-	4	858	c.581C>A	c.(580-582)cCt>cAt	p.P194H	HNRNPD_ENST00000541060.1_Missense_Mutation_p.P40H|HNRNPD_ENST00000352301.4_Missense_Mutation_p.P175H|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000353341.4_Missense_Mutation_p.P194H|HNRNPD_ENST00000543098.1_Missense_Mutation_p.P142H	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	194	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTTCTCTTCAGGTGTATCTGG	0.373																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(580-582)cCt>cAt		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							88.0	93.0	91.0					4																	83279852		2202	4300	6502	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83279852G>T	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.581C>A	4.37:g.83279852G>T	ENSP00000313199:p.Pro194His					HNRNPD_ENST00000543098.1_Missense_Mutation_p.P142H|HNRNPD_ENST00000541060.1_Missense_Mutation_p.P40H|HNRNPD_ENST00000352301.4_Missense_Mutation_p.P175H|HNRNPD_ENST00000353341.4_Missense_Mutation_p.P194H	p.P194H	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			4	858	-			194			RRM 2.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.581C>A	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837588	0.71373	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;2.38;2.38	6.06	6.06	0.98353	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	N	0.11560	0.145	0.80722	D	1	D;D;D;D	0.61697	0.988;0.988;0.988;0.99	D;D;D;D	0.67231	0.916;0.916;0.916;0.95	T	0.79950	-0.1587	10	0.59425	D	0.04	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	175;194;175;194	Q14103-4;Q14103-3;Q14103-2;Q14103	.;.;.;HNRPD_HUMAN	H	194;194;175;142;169;40;127;194;96	ENSP00000313199:P194H;ENSP00000313327:P194H;ENSP00000305860:P175H;ENSP00000439380:P142H;ENSP00000437416:P40H;ENSP00000420926:P127H;ENSP00000421952:P194H;ENSP00000426666:P96H	ENSP00000307544:P169H	P	-	2	0	HNRNPD	83498876	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	CCT		0.373	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		5	89	1	0	0.0215528	1	0.0221649	5	89				
ABCG1	9619	broad.mit.edu	37	21	43704782	43704782	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43704782C>T	ENST00000361802.2	+	7	992	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	ABCG1_ENST00000398437.1_Silent_p.L429L|ABCG1_ENST00000343687.3_Silent_p.L294L|ABCG1_ENST00000340588.4_Silent_p.L391L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.L283L|ABCG1_ENST00000347800.2_Silent_p.L280L|ABCG1_ENST00000398457.2_Silent_p.L285L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	283	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACTCTTCGAGCTGTTCGACCA	0.622																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1285-1287)Ctg>Ttg		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						74.0	75.0	75.0					21																	43704782		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43704782C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.847C>T	21.37:g.43704782C>T						ABCG1_ENST00000398449.3_Silent_p.L283L|ABCG1_ENST00000347800.2_Silent_p.L280L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.L285L|ABCG1_ENST00000361802.2_Silent_p.L283L|ABCG1_ENST00000343687.3_Silent_p.L294L|ABCG1_ENST00000340588.4_Silent_p.L391L	p.L429L			P45844	ABCG1_HUMAN			8	1433	+			283			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.1285C>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080935	0.20309	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.22	3.32	0.38043	.	.	.	.	.	T	0.58495	0.2126	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53781	-0.8390	4	.	.	.	-21.9514	9.0136	0.36157	0.1469:0.772:0.0:0.0811	.	.	.	.	V	18	.	.	A	+	2	0	ABCG1	42577851	0.996000	0.38824	0.975000	0.42487	0.917000	0.54804	0.442000	0.21628	0.862000	0.35528	0.591000	0.81541	GCT		0.622	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		4	66	0	0	0	1	0	4	66				
NR2C1	7181	broad.mit.edu	37	12	95452161	95452161	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95452161T>C	ENST00000333003.5	-	5	799	c.469A>G	c.(469-471)Att>Gtt	p.I157V	NR2C1_ENST00000330677.7_Missense_Mutation_p.I157V|NR2C1_ENST00000393101.3_Missense_Mutation_p.I157V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	157	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGCTTATTAATAATACAATCC	0.358																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(469-471)Att>Gtt		nuclear receptor subfamily 2, group C, member 1							96.0	95.0	96.0					12																	95452161		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95452161T>C	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.469A>G	12.37:g.95452161T>C	ENSP00000333275:p.Ile157Val					NR2C1_ENST00000393101.3_Missense_Mutation_p.I157V|NR2C1_ENST00000330677.7_Missense_Mutation_p.I157V|NR2C1_ENST00000545833.1_5'UTR	p.I157V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			5	799	-			157			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.469A>G	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839636	0.32513	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.97598	-4.45;-4.45;-4.45	5.56	5.56	0.83823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.043870	0.85682	N	0.000000	D	0.95903	0.8666	N	0.17345	0.48	0.80722	D	1	P;P;B;P	0.44690	0.841;0.664;0.02;0.712	D;P;B;P	0.66196	0.942;0.793;0.034;0.869	D	0.93366	0.6731	10	0.06625	T	0.88	.	15.7056	0.77577	0.0:0.0:0.0:1.0	.	157;157;157;157	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	V	157	ENSP00000333275:I157V;ENSP00000376813:I157V;ENSP00000328843:I157V	ENSP00000328843:I157V	I	-	1	0	NR2C1	93976292	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.040000	0.89188	2.123000	0.65237	0.454000	0.30748	ATT		0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		30	47	0	0	0	1	0	30	47				
DEF8	54849	broad.mit.edu	37	16	90025579	90025579	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025579G>T	ENST00000268676.7	+	6	786				DEF8_ENST00000418391.2_Missense_Mutation_p.R177I|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000563594.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)						intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCGAGACCCAGACGAGGAGTG	0.557																																						ENST00000418391.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(529-531)aGa>aTa		differentially expressed in FDCP 8 homolog (mouse)							59.0	61.0	60.0					16																	90025579		2198	4300	6498	SO:0001627	intron_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90025579G>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.697+16G>T	16.37:g.90025579G>T						DEF8_ENST00000268676.7_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Intron	p.R177I	NM_001242821.1|NM_001242822.1|NM_017702.3	NP_001229750.1|NP_001229751.1|NP_060172.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	6	657	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	0					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.530G>T	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003772	0.35320	.	.	ENSG00000140995	ENST00000418391	T	0.43294	0.95	3.86	-4.94	0.03057	.	.	.	.	.	T	0.17916	0.0430	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.22034	-1.0228	7	.	.	.	.	0.9909	0.01456	0.2762:0.2911:0.2857:0.147	.	177	Q6ZN54-2	.	I	177	ENSP00000412784:R177I	.	R	+	2	0	DEF8	88553080	0.003000	0.15002	0.000000	0.03702	0.250000	0.25880	1.225000	0.32551	-0.733000	0.04850	0.462000	0.41574	AGA		0.557	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		15	21	1	0	1.3612e-06	1	1.57881e-06	15	21				
SLCO6A1	133482	broad.mit.edu	37	5	101748843	101748843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101748843C>A	ENST00000506729.1	-	9	1648	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G431W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G493W|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G240W|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G240W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	493						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCAACTTCCCTGTTCTGTAA	0.303																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1477-1479)Ggg>Tgg		solute carrier organic anion transporter family, member 6A1							39.0	40.0	40.0					5																	101748843		2202	4294	6496	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101748843C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1477G>T	5.37:g.101748843C>A	ENSP00000421339:p.Gly493Trp					SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G240W|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G240W|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G431W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G493W	p.G493W			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1648	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	493					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1477G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889271	0.33348	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.296103	0.27715	N	0.018150	T	0.69324	0.3098	M	0.87682	2.9	0.30524	N	0.768144	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72849	-0.4168	10	0.87932	D	0	.	15.8626	0.79038	0.0:1.0:0.0:0.0	.	431;240;493	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	W	493;493;431;240;240	ENSP00000421339:G493W;ENSP00000369135:G493W;ENSP00000373671:G431W;ENSP00000421990:G240W;ENSP00000369138:G240W	ENSP00000369135:G493W	G	-	1	0	SLCO6A1	101776742	1.000000	0.71417	0.268000	0.24571	0.001000	0.01503	4.586000	0.60984	2.720000	0.93068	0.655000	0.94253	GGG		0.303	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		7	30	1	0	0.000157383	1	0.00017284	7	30				
PCDHA11	56138	broad.mit.edu	37	5	140250150	140250150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250150C>T	ENST00000398640.2	+	1	1462	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACGCGCTGGTGTCCTA	0.677																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1462-1464)Ctg>Ttg									81.0	84.0	83.0					5																	140250150		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140250150C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1462C>T	5.37:g.140250150C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.L488L	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1462	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1462C>T	CCDS47284.1																																																																																				0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		34	65	0	0	0	1	0	34	65				
COPS2	9318	broad.mit.edu	37	15	49426260	49426260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49426260G>A	ENST00000388901.5	-	8	834	c.761C>T	c.(760-762)gCa>gTa	p.A254V	COPS2_ENST00000542928.1_Missense_Mutation_p.A190V|COPS2_ENST00000299259.6_Missense_Mutation_p.A261V	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	254	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATCAGTGTGTGCCTTTTCAAA	0.343																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18						c.(760-762)gCa>gTa		COP9 signalosome subunit 2							92.0	99.0	97.0					15																	49426260		2194	4295	6489	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49426260G>A	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.761C>T	15.37:g.49426260G>A	ENSP00000373553:p.Ala254Val					COPS2_ENST00000542928.1_Missense_Mutation_p.A190V|COPS2_ENST00000299259.6_Missense_Mutation_p.A261V	p.A254V	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	8	834	-		all_lung(180;0.0428)	254			PCI.		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.761C>T	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687531	0.96784	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	D;T;D	0.93953	-3.32;2.2;-3.32	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	D	0.97228	0.9094	H	0.94698	3.57	0.80722	D	1	P;P;P	0.45768	0.866;0.866;0.866	P;P;P	0.53102	0.718;0.718;0.718	D	0.97590	1.0116	10	0.87932	D	0	-6.9858	20.3465	0.98790	0.0:0.0:1.0:0.0	.	190;262;254	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	V	261;254;190	ENSP00000299259:A261V;ENSP00000373553:A254V;ENSP00000443664:A190V	ENSP00000299259:A261V	A	-	2	0	COPS2	47213552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.798000	0.96311	0.655000	0.94253	GCA		0.343	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		26	44	0	0	0	1	0	26	44				
NEUROD2	4761	broad.mit.edu	37	17	37762415	37762415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37762415C>A	ENST00000302584.4	-	2	658	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	146	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			AGGGCACCACCTTGCGCAGGT	0.642																																						ENST00000302584.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(436-438)aaG>aaT		neuronal differentiation 2							52.0	39.0	43.0					17																	37762415		2203	4300	6503	SO:0001583	missense	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762415C>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.438G>T	17.37:g.37762415C>A	ENSP00000306754:p.Lys146Asn						p.K146N	NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	658	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		146			Helix-loop-helix motif.		Q8TBI7|Q9UQC6	Missense_Mutation	SNP	ENST00000302584.4	37	c.438G>T	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482511	0.63962	.	.	ENSG00000171532	ENST00000302584	D	0.97994	-4.65	5.32	4.35	0.52113	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	U	0.000000	D	0.96981	0.9014	N	0.25031	0.7	0.54753	D	0.999985	D	0.62365	0.991	D	0.76071	0.987	D	0.96684	0.9506	10	0.59425	D	0.04	-28.2236	12.3169	0.54962	0.0:0.9165:0.0:0.0835	.	146	Q15784	NDF2_HUMAN	N	146	ENSP00000306754:K146N	ENSP00000306754:K146N	K	-	3	2	NEUROD2	35015941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.505000	0.45424	2.486000	0.83907	0.561000	0.74099	AAG		0.642	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		14	17	1	0	4.93089e-13	1	6.23885e-13	14	17				
AKAP8L	26993	broad.mit.edu	37	19	15508576	15508576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15508576G>T	ENST00000397410.5	-	10	1378	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	AKAP8L_ENST00000595465.2_Missense_Mutation_p.H355Q|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	416						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGTACTTAAAGTGTTCCTTGT	0.517																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1246-1248)caC>caA		A kinase (PRKA) anchor protein 8-like							123.0	122.0	122.0					19																	15508576		1991	4158	6149	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15508576G>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1248C>A	19.37:g.15508576G>T	ENSP00000380557:p.His416Gln					AKAP8L_ENST00000595465.1_Missense_Mutation_p.H355Q	p.H416Q	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			10	1312	-			416					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1248C>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	6.456	0.452296	0.12283	.	.	ENSG00000011243	ENST00000397410	T	0.42900	0.96	5.28	-1.11	0.09840	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.51422	1.61	0.30082	N	0.80905	D;D	0.76494	0.999;0.999	D;D	0.72338	0.966;0.977	T	0.44922	-0.9296	10	0.52906	T	0.07	-23.7627	5.4792	0.16713	0.4563:0.1435:0.4001:0.0	.	355;416	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	Q	416	ENSP00000380557:H416Q	ENSP00000380557:H416Q	H	-	3	2	AKAP8L	15369576	1.000000	0.71417	0.770000	0.31555	0.000000	0.00434	0.954000	0.29175	-0.004000	0.14419	-1.254000	0.01491	CAC		0.517	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		17	35	1	0	6.94344e-10	1	8.49476e-10	17	35				
ALKBH6	84964	broad.mit.edu	37	19	36501867	36501867	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36501867G>T	ENST00000252984.7	-	6	417	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	ALKBH6_ENST00000378875.3_Missense_Mutation_p.L117I|ALKBH6_ENST00000495116.2_Intron|SYNE4_ENST00000324444.3_5'Flank|ALKBH6_ENST00000485128.1_Missense_Mutation_p.L89I|SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000486389.1_Missense_Mutation_p.L66I|AC002116.8_ENST00000473572.2_RNA			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	89						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGAGGCTGAGGTTTGACACT	0.622																																						ENST00000486389.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9						c.(196-198)Ctc>Atc		alkB, alkylation repair homolog 6 (E. coli)							74.0	59.0	64.0					19																	36501867		2203	4300	6503	SO:0001583	missense	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501867G>T	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.265C>A	19.37:g.36501867G>T	ENSP00000252984:p.Leu89Ile					ALKBH6_ENST00000378875.3_Missense_Mutation_p.L117I|ALKBH6_ENST00000485128.1_Missense_Mutation_p.L89I|ALKBH6_ENST00000252984.7_Missense_Mutation_p.L89I|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_Intron	p.L66I			Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	944	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		89					A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37	c.196C>A		.	.	.	.	.	.	.	.	.	.	G	18.10	3.547632	0.65311	.	.	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.32023	2.67;1.47;2.67	5.25	5.25	0.73442	.	.	.	.	.	T	0.53786	0.1818	M	0.77712	2.385	0.52501	D	0.999958	D;D;D;D	0.89917	1.0;1.0;0.981;0.98	D;D;P;P	0.74348	0.975;0.983;0.858;0.779	T	0.50162	-0.8860	9	0.23302	T	0.38	.	14.3322	0.66564	0.0:0.0:1.0:0.0	.	89;110;117;89	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	I	117;89;89;89	ENSP00000368152:L117I;ENSP00000436742:L89I;ENSP00000252984:L89I	ENSP00000252984:L89I	L	-	1	0	ALKBH6	41193707	0.997000	0.39634	1.000000	0.80357	0.659000	0.38960	2.114000	0.41911	2.452000	0.82932	0.591000	0.81541	CTC		0.622	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		5	28	1	0	3.59834e-05	1	4.01776e-05	5	28				
KCTD16	57528	broad.mit.edu	37	5	143853619	143853619	+	Missense_Mutation	SNP	G	G	A	rs147890155		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:143853619G>A	ENST00000507359.3	+	3	2320	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R410Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	410					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATTCCAGATCGGTTTCCTGAG	0.383																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(1228-1230)cGg>cAg		potassium channel tetramerization domain containing 16		G	GLN/ARG	0,4394		0,0,2197	54.0	63.0	60.0		1229	6.2	1.0	5	dbSNP_134	60	1,8595	1.2+/-3.3	0,1,4297	no	missense	KCTD16	NM_020768.3	43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	410/429	143853619	1,12989	2197	4298	6495	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853619G>A	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1229G>A	5.37:g.143853619G>A	ENSP00000426548:p.Arg410Gln					KCTD16_ENST00000512467.1_Missense_Mutation_p.R410Q	p.R410Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2320	+		all_hematologic(541;0.118)	410					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.1229G>A	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319842	0.60634	0.0	1.16E-4	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.42900	0.96;0.96	6.17	6.17	0.99709	.	0.186988	0.42964	D	0.000624	T	0.31544	0.0800	L	0.27053	0.805	0.38724	D	0.953501	P	0.47545	0.897	B	0.35278	0.199	T	0.10268	-1.0637	10	0.31617	T	0.26	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	410	Q68DU8	KCD16_HUMAN	Q	410	ENSP00000424151:R410Q;ENSP00000426548:R410Q	ENSP00000426548:R410Q	R	+	2	0	KCTD16	143833812	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	6.287000	0.72671	2.941000	0.99782	0.655000	0.94253	CGG		0.383	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		38	78	0	0	0	1	0	38	78				
SOS2	6655	broad.mit.edu	37	14	50626452	50626452	+	Missense_Mutation	SNP	T	T	C	rs548114426		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626452T>C	ENST00000216373.5	-	10	1823	c.1549A>G	c.(1549-1551)Aaa>Gaa	p.K517E	SOS2_ENST00000543680.1_Missense_Mutation_p.K484E|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	517	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCTCATCTTTGGATACTAAT	0.343													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21078	0.0		0.0	False		,,,				2504	0.0					ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1549-1551)Aaa>Gaa		son of sevenless homolog 2 (Drosophila)							85.0	87.0	86.0					14																	50626452		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626452T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1549A>G	14.37:g.50626452T>C	ENSP00000216373:p.Lys517Glu					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.K484E	p.K517E	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1823	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		517			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1549A>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201875	0.58234	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.76578	-1.03;-1.03	5.87	5.87	0.94306	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.044822	0.85682	D	0.000000	T	0.80144	0.4569	M	0.64997	1.995	0.48341	D	0.999637	P;P;B	0.45768	0.866;0.495;0.153	P;B;B	0.46208	0.507;0.181;0.093	T	0.81707	-0.0810	10	0.54805	T	0.06	.	16.2631	0.82557	0.0:0.0:0.0:1.0	.	484;547;517	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	E	517;484	ENSP00000216373:K517E;ENSP00000445328:K484E	ENSP00000216373:K517E	K	-	1	0	SOS2	49696202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.681000	0.68175	2.239000	0.73571	0.528000	0.53228	AAA		0.343	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			40	72	0	0	0	1	0	40	72				
PHF14	9678	broad.mit.edu	37	7	11076172	11076172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11076172G>A	ENST00000403050.3	+	9	2182	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	PHF14_ENST00000445996.2_Missense_Mutation_p.R292H	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	577					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCAGCTATTCGTAAACTTATG	0.468																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1729-1731)cGt>cAt		PHD finger protein 14							91.0	88.0	89.0					7																	11076172		1899	4132	6031	SO:0001583	missense	9678						zinc ion binding	g.chr7:11076172G>A	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1730G>A	7.37:g.11076172G>A	ENSP00000385795:p.Arg577His					PHF14_ENST00000445996.2_Missense_Mutation_p.R292H	p.R577H	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	9	2182	+			577					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1730G>A	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215366	0.95104	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.72167	-0.32;-0.63	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.77004	0.989;0.964;0.987;0.934	T	0.79718	-0.1686	10	0.62326	D	0.03	.	19.2924	0.94105	0.0:0.0:1.0:0.0	.	292;292;577;577	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	H	577;292	ENSP00000385795:R577H;ENSP00000403907:R292H	ENSP00000385795:R577H	R	+	2	0	PHF14	11042697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.783000	0.95769	0.655000	0.94253	CGT		0.468	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		25	55	0	0	0	1	0	25	55				
TDGF1P3	6998	broad.mit.edu	37	X	109764812	109764812	+	RNA	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109764812T>A	ENST00000602699.1	+	0	1273					NR_002718.2		P51864	TDGF3_HUMAN	teratocarcinoma-derived growth factor 1 pseudogene 3						signal transduction (GO:0007165)	cell outer membrane (GO:0009279)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)										TGTGATGGCCTTGTGATGGAT	0.542																																						ENST00000602699.1																			0																																																			0							g.chrX:109764812T>A	M96956		Xq23	2011-06-24	2011-06-24	2011-06-24	ENSG00000225366	ENSG00000225366			11703	pseudogene	pseudogene			"""teratocarcinoma-derived growth factor 3, pseudogene"""	TDGF3		1882841	Standard	NR_002718		Approved	TDGF2, CR-3, CRIPTO-3, CRIPTO3	uc004eos.1	P51864	OTTHUMG00000022195		X.37:g.109764812T>A								NR_002718.2						0	1273	+									RNA	SNP	ENST00000602699.1	37																																																																																						0.542	TDGF1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467333.2	NR_002718		7	54	0	0	0	1	0	7	54				
GAA	2548	broad.mit.edu	37	17	78092152	78092152	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092152G>T	ENST00000302262.3	+	18	2861	c.2642G>T	c.(2641-2643)aGg>aTg	p.R881M	GAA_ENST00000390015.3_Missense_Mutation_p.R881M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	881					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TTCCTGGCCAGGAATGTGAGT	0.667																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2641-2643)aGg>aTg		glucosidase, alpha; acid	Acarbose(DB00284)						48.0	54.0	52.0					17																	78092152		2203	4300	6503	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78092152G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2642G>T	17.37:g.78092152G>T	ENSP00000305692:p.Arg881Met					GAA_ENST00000390015.3_Missense_Mutation_p.R881M	p.R881M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		18	2861	+	all_neural(118;0.117)		881					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.2642G>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	5.656	0.305642	0.10678	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.90069	-2.61;-2.61	5.65	-7.91	0.01165	.	1.286840	0.05141	N	0.494315	D	0.82724	0.5099	L	0.45137	1.4	0.09310	N	1	B	0.33940	0.433	B	0.33750	0.169	T	0.74362	-0.3690	10	0.49607	T	0.09	-8.8966	10.7403	0.46149	0.604:0.2242:0.1718:0.0	.	881	P10253	LYAG_HUMAN	M	881	ENSP00000305692:R881M;ENSP00000374665:R881M	ENSP00000305692:R881M	R	+	2	0	GAA	75706747	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.606000	0.05654	-1.747000	0.01333	-0.768000	0.03414	AGG		0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			6	51	1	0	0.00116845	1	0.00124821	6	51				
CCDC102B	79839	broad.mit.edu	37	18	66721309	66721309	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66721309C>A	ENST00000360242.5	+	8	1594	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	CCDC102B_ENST00000319445.6_Missense_Mutation_p.L493M	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	493										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCAGAGGTCTCTGGATGAAGA	0.373																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1477-1479)Ctg>Atg		coiled-coil domain containing 102B							82.0	80.0	80.0					18																	66721309		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66721309C>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1477C>A	18.37:g.66721309C>A	ENSP00000353377:p.Leu493Met					CCDC102B_ENST00000319445.6_Missense_Mutation_p.L493M	p.L493M	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			8	1594	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	493					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1477C>A	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392334	0.25118	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.14640	2.49;2.49	5.05	2.93	0.34026	.	0.000000	0.29660	U	0.011539	T	0.27798	0.0684	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01013	-1.1481	10	0.59425	D	0.04	-5.2293	6.0661	0.19864	0.0:0.7117:0.0:0.2883	.	493	Q68D86	C102B_HUMAN	M	493	ENSP00000316237:L493M;ENSP00000353377:L493M	ENSP00000316237:L493M	L	+	1	2	CCDC102B	64872289	1.000000	0.71417	0.996000	0.52242	0.217000	0.24651	2.060000	0.41394	0.342000	0.23796	0.454000	0.30748	CTG		0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		35	42	1	0	4.0492e-12	1	5.08037e-12	35	42				
PIGA	5277	broad.mit.edu	37	X	15350018	15350018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15350018C>T	ENST00000333590.4	-	2	119	c.35G>A	c.(34-36)cGt>cAt	p.R12H	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_De_novo_Start_OutOfFrame	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	12					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AGCTGAGGCACGGTGGCCATT	0.473																																						ENST00000428964.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10								phosphatidylinositol glycan anchor biosynthesis, class A							76.0	76.0	76.0					X																	15350018		2203	4300	6503	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15350018C>T	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.35G>A	X.37:g.15350018C>T	ENSP00000369820:p.Arg12His					PIGA_ENST00000542278.1_Intron|PIGA_ENST00000333590.4_Missense_Mutation_p.R12H|PIGA_ENST00000482148.1_5'UTR				P37287	PIGA_HUMAN			0	134	-	Hepatocellular(33;0.183)							B4E0V2|Q16025|Q16250	Translation_Start_Site	SNP	ENST00000333590.4	37		CCDS14165.1	.	.	.	.	.	.	.	.	.	.	C	4.936	0.173899	0.09391	.	.	ENSG00000165195	ENST00000333590	.	.	.	6.08	-1.16	0.09678	.	1.531200	0.03308	N	0.190091	T	0.25382	0.0617	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.25950	-1.0117	9	0.44086	T	0.13	1.0611	9.2514	0.37557	0.2169:0.5677:0.2154:0.0	.	12;12;12	A8K382;P37287-2;P37287	.;.;PIGA_HUMAN	H	12	.	ENSP00000369820:R12H	R	-	2	0	PIGA	15259939	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.021000	0.12504	-0.475000	0.06852	-0.200000	0.12747	CGT		0.473	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		37	68	0	0	0	1	0	37	68				
COPG1	22820	broad.mit.edu	37	3	128987792	128987792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128987792G>A	ENST00000314797.6	+	18	1896	c.1792G>A	c.(1792-1794)Gca>Aca	p.A598T		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	598					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CCCCATCACAGCAGTCAAACA	0.547																																						ENST00000314797.6																			0											c.(1792-1794)Gca>Aca		coatomer protein complex, subunit gamma 1							133.0	123.0	126.0					3																	128987792		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128987792G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1792G>A	3.37:g.128987792G>A	ENSP00000325002:p.Ala598Thr						p.A598T	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			18	1896	+			598					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.1792G>A	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265082	0.23136	.	.	ENSG00000181789	ENST00000314797	T	0.18657	2.2	5.88	4.05	0.47172	.	0.305497	0.32343	N	0.006236	T	0.10121	0.0248	N	0.16478	0.41	0.36051	D	0.840749	B	0.02656	0.0	B	0.01281	0.0	T	0.18999	-1.0319	10	0.16896	T	0.51	-24.1686	4.7743	0.13171	0.1609:0.0:0.6573:0.1818	.	598	Q9Y678	COPG_HUMAN	T	598	ENSP00000325002:A598T	ENSP00000325002:A598T	A	+	1	0	COPG	130470482	0.913000	0.31002	0.244000	0.24202	0.995000	0.86356	1.804000	0.38873	1.454000	0.47793	0.591000	0.81541	GCA		0.547	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		34	44	0	0	0	1	0	34	44				
CHST3	9469	broad.mit.edu	37	10	73767297	73767297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767297C>T	ENST00000373115.4	+	3	945	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	170					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)	p.R170C(1)		endometrium(1)|lung(5)	6						GCACATCGAGCGCACAGTGTC	0.657																																						ENST00000373115.4																			1	Substitution - Missense(1)	p.R170C(1)	endometrium(1)	endometrium(1)|lung(5)	6						c.(508-510)Cgc>Tgc		carbohydrate (chondroitin 6) sulfotransferase 3							23.0	23.0	23.0					10																	73767297		2203	4299	6502	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767297C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.508C>T	10.37:g.73767297C>T	ENSP00000362207:p.Arg170Cys						p.R170C	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	945	+			170					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.508C>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505580	0.64410	.	.	ENSG00000122863	ENST00000373115	D	0.82619	-1.63	5.68	4.75	0.60458	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	M	0.68952	2.095	0.52099	D	0.999947	D	0.89917	1.0	D	0.69307	0.963	D	0.89290	0.3618	10	0.72032	D	0.01	-27.5272	12.9635	0.58472	0.3345:0.6655:0.0:0.0	.	170	Q7LGC8	CHST3_HUMAN	C	170	ENSP00000362207:R170C	ENSP00000362207:R170C	R	+	1	0	CHST3	73437303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.623000	0.37008	2.698000	0.92095	0.561000	0.74099	CGC		0.657	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		7	10	0	0	0	1	0	7	10				
LIN9	286826	broad.mit.edu	37	1	226474112	226474112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226474112G>T	ENST00000328205.5	-	6	1039	c.494C>A	c.(493-495)tCt>tAt	p.S165Y	LIN9_ENST00000481685.1_Missense_Mutation_p.S130Y|LIN9_ENST00000366801.1_Missense_Mutation_p.S114Y	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	149	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATTAGGAAAAGATTCCTTTAG	0.313																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(493-495)tCt>tAt		lin-9 homolog (C. elegans)							61.0	68.0	66.0					1																	226474112		2201	4300	6501	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226474112G>T	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.494C>A	1.37:g.226474112G>T	ENSP00000329102:p.Ser165Tyr					LIN9_ENST00000366801.1_Missense_Mutation_p.S114Y|LIN9_ENST00000481685.1_Missense_Mutation_p.S130Y	p.S165Y	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	6	1039	-	Breast(184;0.158)		149			Sufficient for interaction with RB1.		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.494C>A	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029625	0.93518	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	L	0.54323	1.7	0.80722	D	1	P;D;D	0.76494	0.934;0.957;0.999	P;P;D	0.87578	0.787;0.776;0.998	T	0.64824	-0.6316	9	0.02654	T	1	.	20.1556	0.98114	0.0:0.0:1.0:0.0	.	130;149;299	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	Y	125;165;220;114;130;299	.	ENSP00000329102:S165Y	S	-	2	0	LIN9	224540735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.204000	0.95041	2.767000	0.95098	0.655000	0.94253	TCT		0.313	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		26	77	1	0	1.1804e-14	1	1.50872e-14	26	77				
NCOA7	135112	broad.mit.edu	37	6	126236496	126236496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126236496C>T	ENST00000368357.3	+	12	2466	c.2114C>T	c.(2113-2115)aCa>aTa	p.T705I	NCOA7_ENST00000392477.2_Missense_Mutation_p.T705I|NCOA7_ENST00000229634.9_Missense_Mutation_p.T590I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	705					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTGTACACATTCTTTGTT	0.433																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(2113-2115)aCa>aTa		nuclear receptor coactivator 7							219.0	184.0	196.0					6																	126236496		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126236496C>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2114C>T	6.37:g.126236496C>T	ENSP00000357341:p.Thr705Ile					NCOA7_ENST00000229634.9_Missense_Mutation_p.T590I|NCOA7_ENST00000392477.2_Missense_Mutation_p.T705I	p.T705I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	12	2466	+			705					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.2114C>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402573	0.83230	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353	T;T;T;T	0.31510	2.68;2.68;2.69;1.49	5.67	5.67	0.87782	.	0.169666	0.53938	D	0.000058	T	0.25494	0.0620	L	0.43152	1.355	0.42549	D	0.993102	P;P;P	0.50617	0.895;0.937;0.895	B;P;B	0.49252	0.4;0.604;0.4	T	0.00728	-1.1591	10	0.45353	T	0.12	-5.4281	14.9088	0.70740	0.1432:0.8568:0.0:0.0	.	694;694;705	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	I	705;705;590;15;15	ENSP00000357341:T705I;ENSP00000376269:T705I;ENSP00000229634:T590I;ENSP00000411002:T15I	ENSP00000229634:T590I	T	+	2	0	NCOA7	126278189	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	4.570000	0.60872	2.829000	0.97493	0.655000	0.94253	ACA		0.433	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		11	120	0	0	0	1	0	11	120				
LIPE	3991	broad.mit.edu	37	19	42906780	42906780	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42906780G>A	ENST00000244289.4	-	9	3222	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	982					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGGTGGCAGGCTCTTGAGCA	0.642																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2944-2946)agC>agT		lipase, hormone-sensitive							48.0	46.0	47.0					19																	42906780		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42906780G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2946C>T	19.37:g.42906780G>A						LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.S982S	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			9	3222	-		Prostate(69;0.00682)	982					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2946C>T	CCDS12607.1																																																																																				0.642	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		9	19	0	0	0	1	0	9	19				
MYH7	4625	broad.mit.edu	37	14	23894044	23894044	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894044C>A	ENST00000355349.3	-	22	2775	c.2613G>T	c.(2611-2613)aaG>aaT	p.K871N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	871					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCCAGCTCCTTGCGGCGAG	0.587																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2611-2613)aaG>aaT		myosin, heavy chain 7, cardiac muscle, beta							87.0	77.0	80.0					14																	23894044		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894044C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2613G>T	14.37:g.23894044C>A	ENSP00000347507:p.Lys871Asn						p.K871N	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2775	-	all_cancers(95;2.54e-05)		871					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2613G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740184	0.69304	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83992	-1.79	4.73	3.84	0.44239	.	.	.	.	.	D	0.89181	0.6642	M	0.78049	2.395	0.54753	D	0.999986	D	0.76494	0.999	D	0.87578	0.998	D	0.88947	0.3384	9	0.87932	D	0	.	7.8674	0.29545	0.0:0.7529:0.0:0.2471	.	871	P12883	MYH7_HUMAN	N	871	ENSP00000347507:K871N	ENSP00000347507:K871N	K	-	3	2	MYH7	22963884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.869000	0.39519	1.348000	0.45733	0.655000	0.94253	AAG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	47	1	0	1.23904e-05	1	1.39987e-05	5	47				
PLA2G4C	8605	broad.mit.edu	37	19	48556297	48556297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48556297C>A	ENST00000599921.1	-	16	1894	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	PLA2G4C_ENST00000354276.3_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000599111.1_Nonsense_Mutation_p.E523*|PLA2G4C_ENST00000413144.2_Nonsense_Mutation_p.E513*|AC010458.1_ENST00000408668.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	513	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTCTTGTTTTCCCTGACATTC	0.478																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(1537-1539)Gaa>Taa		phospholipase A2, group IVC (cytosolic, calcium-independent)							228.0	178.0	195.0					19																	48556297		2203	4300	6503	SO:0001587	stop_gained	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48556297C>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1537G>T	19.37:g.48556297C>A	ENSP00000469473:p.Glu513*					PLA2G4C_ENST00000413144.2_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000599921.1_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Nonsense_Mutation_p.E523*	p.E513*	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	16	1864	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	513			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Nonsense_Mutation	SNP	ENST00000599921.1	37	c.1537G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	35	5.453648	0.96223	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	.	.	.	2.99	-2.64	0.06114	.	0.896285	0.08862	U	0.882829	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	0.6012	1.1183	0.01719	0.1847:0.1294:0.3762:0.3097	.	.	.	.	X	513	.	ENSP00000346228:E513X	E	-	1	0	PLA2G4C	53248109	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.475000	0.06599	-0.874000	0.04027	-0.490000	0.04691	GAA		0.478	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			6	68	1	0	0.248553	1	0.25002	6	68				
CCDC33	80125	broad.mit.edu	37	15	74565152	74565152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565152C>T	ENST00000398814.3	+	7	1110	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	CCDC33_ENST00000321288.5_Missense_Mutation_p.P430S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	430	C2.									breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTGGGGCTGCCCATCACCCC	0.637																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1288-1290)Ccc>Tcc		coiled-coil domain containing 33							79.0	84.0	82.0					15																	74565152		2056	4170	6226	SO:0001583	missense	80125						protein binding	g.chr15:74565152C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.679C>T	15.37:g.74565152C>T	ENSP00000381795:p.Pro227Ser					CCDC33_ENST00000398814.3_Missense_Mutation_p.P227S	p.P430S			Q8N5R6	CCD33_HUMAN			9	1288	+			430					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1288C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.328473	0.60743	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.25250	1.81;2.15	4.37	4.37	0.52481	.	0.219008	0.31554	N	0.007452	T	0.45736	0.1357	M	0.73598	2.24	0.31659	N	0.645772	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47935	-0.9078	10	0.10636	T	0.68	.	12.8226	0.57702	0.0:1.0:0.0:0.0	.	430;227	C9JFX2;Q8N5R6-6	.;.	S	430;227	ENSP00000325012:P430S;ENSP00000381795:P227S	ENSP00000325012:P430S	P	+	1	0	CCDC33	72352205	0.994000	0.37717	1.000000	0.80357	0.815000	0.46073	2.104000	0.41815	2.166000	0.68216	0.550000	0.68814	CCC		0.637	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		16	27	0	0	0	1	0	16	27				
CCBL1	883	broad.mit.edu	37	9	131605002	131605002	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131605002G>A	ENST00000302586.3	-	3	294	c.132C>T	c.(130-132)gaC>gaT	p.D44D	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Silent_p.D44D|CCBL1_ENST00000436267.2_Silent_p.D138D	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	44					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	CCACGGCAAAGTCTGGTGGTG	0.532																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(412-414)gaC>gaT		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						71.0	74.0	73.0					9																	131605002		2030	4194	6224	SO:0001819	synonymous_variant	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131605002G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.132C>T	9.37:g.131605002G>A						CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Silent_p.D44D|CCBL1_ENST00000320665.6_Silent_p.D44D	p.D138D			Q16773	KAT1_HUMAN			5	563	-			44					Q5T275|Q8N191	Silent	SNP	ENST00000302586.3	37	c.414C>T	CCDS43884.1																																																																																				0.532	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			13	20	0	0	0	1	0	13	20				
TRIM29	23650	broad.mit.edu	37	11	119999157	119999157	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119999157T>A	ENST00000341846.5	-	2	1272	c.851A>T	c.(850-852)gAg>gTg	p.E284V	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Missense_Mutation_p.E17V|TRIM29_ENST00000529044.1_Missense_Mutation_p.E23V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	284					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCCTCAATCTCAATGATCTT	0.552																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(850-852)gAg>gTg		tripartite motif containing 29							96.0	76.0	83.0					11																	119999157		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119999157T>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.851A>T	11.37:g.119999157T>A	ENSP00000343129:p.Glu284Val					TRIM29_ENST00000529044.1_Missense_Mutation_p.E23V|TRIM29_ENST00000541857.1_Missense_Mutation_p.E17V	p.E284V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	2	1272	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	284					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.851A>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157128	0.57259	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.48522	0.81	4.9	4.9	0.64082	.	0.081576	0.51477	D	0.000095	T	0.52256	0.1723	N	0.19112	0.55	0.47341	D	0.999392	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.78314	0.991;0.991;0.946	T	0.51124	-0.8745	9	.	.	.	.	14.5438	0.68015	0.0:0.0:0.0:1.0	.	17;23;284	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	V	284;17;23	ENSP00000343129:E284V	.	E	-	2	0	TRIM29	119504367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.080000	0.57620	1.853000	0.53794	0.459000	0.35465	GAG		0.552	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		4	46	0	0	0	1	0	4	46				
CEP72	55722	broad.mit.edu	37	5	634048	634048	+	Missense_Mutation	SNP	C	C	A	rs201789250		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:634048C>A	ENST00000264935.5	+	5	767	c.677C>A	c.(676-678)tCt>tAt	p.S226Y	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	226					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.S226C(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GAGGCCGACTCTCGTGGTTCC	0.617																																						ENST00000264935.5																			1	Substitution - Missense(1)	p.S226C(1)	cervix(1)	autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(676-678)tCt>tAt		centrosomal protein 72kDa							52.0	53.0	53.0					5																	634048		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:634048C>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.677C>A	5.37:g.634048C>A	ENSP00000264935:p.Ser226Tyr					CEP72_ENST00000444221.1_Intron	p.S226Y	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		5	767	+			226					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.677C>A	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	6.426	0.446645	0.12223	.	.	ENSG00000112877	ENST00000264935	T	0.08458	3.09	4.97	1.09	0.20402	.	2.649910	0.01179	N	0.007042	T	0.06735	0.0172	N	0.22421	0.69	0.09310	N	1	B	0.19706	0.038	B	0.16722	0.016	T	0.33624	-0.9861	10	0.25751	T	0.34	-0.2992	4.5743	0.12225	0.0:0.1833:0.1641:0.6526	.	226	Q9P209	CEP72_HUMAN	Y	226	ENSP00000264935:S226Y	ENSP00000264935:S226Y	S	+	2	0	CEP72	687048	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.710000	0.25748	0.003000	0.14656	-0.379000	0.06801	TCT		0.617	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		4	67	1	0	0.00909568	1	0.00947522	4	67				
LRRIQ1	84125	broad.mit.edu	37	12	85546114	85546114	+	Silent	SNP	A	A	G	rs572799355		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85546114A>G	ENST00000393217.2	+	20	4447	c.4386A>G	c.(4384-4386)acA>acG	p.T1462T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1462										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTCACAAACACTGCTTCTTT	0.393																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4384-4386)acA>acG		leucine-rich repeats and IQ motif containing 1							138.0	133.0	134.0					12																	85546114		1901	4113	6014	SO:0001819	synonymous_variant	84125							g.chr12:85546114A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4386A>G	12.37:g.85546114A>G							p.T1462T	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	20	4447	+			1462					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4386A>G	CCDS41816.1																																																																																				0.393	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		27	58	0	0	0	1	0	27	58				
ARL6IP6	151188	broad.mit.edu	37	2	153591515	153591515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153591515G>A	ENST00000326446.5	+	3	1173	c.462G>A	c.(460-462)tgG>tgA	p.W154*	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	154						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AAGGATTCTGGACTCTACTTA	0.353																																						ENST00000326446.5																			0				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(460-462)tgG>tgA		ADP-ribosylation-like factor 6 interacting protein 6							151.0	155.0	154.0					2																	153591515		2203	4300	6503	SO:0001587	stop_gained	151188					integral to membrane		g.chr2:153591515G>A	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.462G>A	2.37:g.153591515G>A	ENSP00000315357:p.Trp154*					ARL6IP6_ENST00000463690.1_3'UTR	p.W154*	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN			3	1173	+			154					B2RDS6|Q7Z4G7	Nonsense_Mutation	SNP	ENST00000326446.5	37	c.462G>A	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	G	43	10.177440	0.99353	.	.	ENSG00000177917	ENST00000326446	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7382	18.9906	0.92789	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000315357:W154X	W	+	3	0	ARL6IP6	153299761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.469000	0.66749	2.780000	0.95670	0.655000	0.94253	TGG		0.353	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		37	99	0	0	0	1	0	37	99				
TGM4	7047	broad.mit.edu	37	3	44951682	44951682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44951682G>A	ENST00000296125.4	+	11	1496	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	476					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCACATGTCGGTACAATCAG	0.483																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1426-1428)tcG>tcA		transglutaminase 4	L-Glutamine(DB00130)						99.0	96.0	97.0					3																	44951682		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44951682G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1428G>A	3.37:g.44951682G>A							p.S476S	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	11	1496	+			476					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.1428G>A	CCDS2723.1																																																																																				0.483	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		7	84	0	0	0	1	0	7	84				
ASB15	142685	broad.mit.edu	37	7	123267271	123267271	+	Missense_Mutation	SNP	G	G	A	rs201696803		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123267271G>A	ENST00000451558.1	+	11	1326	c.805G>A	c.(805-807)Gga>Aga	p.G269R	RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.G269R|ASB15_ENST00000434204.1_Missense_Mutation_p.G269R|ASB15_ENST00000275699.3_Missense_Mutation_p.G269R|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.G269R|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	269					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGAGGAAGCGGAAATGTACC	0.493																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(805-807)Gga>Aga		ankyrin repeat and SOCS box containing 15							130.0	104.0	113.0					7																	123267271		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123267271G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.805G>A	7.37:g.123267271G>A	ENSP00000397655:p.Gly269Arg					ASB15_ENST00000540573.1_Missense_Mutation_p.G269R|ASB15_ENST00000275699.3_Missense_Mutation_p.G269R|ASB15_ENST00000434204.1_Missense_Mutation_p.G269R|ASB15_ENST00000451215.1_Missense_Mutation_p.G269R	p.G269R			Q8WXK1	ASB15_HUMAN			11	1326	+			269					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.805G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720925	0.89205	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.57	5.57	0.84162	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.65657	0.2712	N	0.12569	0.235	0.50813	D	0.999899	D	0.71674	0.998	D	0.65573	0.936	T	0.72401	-0.4305	10	0.72032	D	0.01	-0.1123	19.5537	0.95331	0.0:0.0:1.0:0.0	.	269	Q8WXK1	ASB15_HUMAN	R	269;269;269;269;58;269	ENSP00000397655:G269R;ENSP00000390963:G269R;ENSP00000416433:G269R;ENSP00000438643:G269R;ENSP00000275699:G269R	ENSP00000275699:G269R	G	+	1	0	ASB15	123054507	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	5.815000	0.69215	2.614000	0.88457	0.557000	0.71058	GGA		0.493	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			10	44	0	0	0	1	0	10	44				
PLCXD3	345557	broad.mit.edu	37	5	41382286	41382286	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382286T>A	ENST00000377801.3	-	2	528	c.454A>T	c.(454-456)Aaa>Taa	p.K152*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.K152*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	152	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGGTGATATTTCTGCATCCCA	0.413																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(454-456)Aaa>Taa		phosphatidylinositol-specific phospholipase C, X domain containing 3							114.0	114.0	114.0					5																	41382286		2203	4300	6503	SO:0001587	stop_gained	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382286T>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.454A>T	5.37:g.41382286T>A	ENSP00000367032:p.Lys152*					PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.K152*	p.K152*			Q63HM9	PLCX3_HUMAN			2	528	-			152			PI-PLC X-box.		A6NL04	Nonsense_Mutation	SNP	ENST00000377801.3	37	c.454A>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	T	37	6.062663	0.97246	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.81	5.81	0.92471	.	0.084493	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-17.5138	16.1668	0.81768	0.0:0.0:0.0:1.0	.	.	.	.	X	152	.	ENSP00000333751:K152X	K	-	1	0	PLCXD3	41418043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	2.210000	0.71456	0.533000	0.62120	AAA		0.413	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		54	91	0	0	0	1	0	54	91				
HOMER3	9454	broad.mit.edu	37	19	19049214	19049214	+	Missense_Mutation	SNP	C	C	T	rs574022526		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19049214C>T	ENST00000539827.1	-	3	903	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000433218.2_Missense_Mutation_p.R84H|HOMER3_ENST00000392351.3_Missense_Mutation_p.R84H|HOMER3_ENST00000594439.1_Missense_Mutation_p.R84H|AC005932.1_ENST00000601106.1_RNA|HOMER3_ENST00000542541.2_Missense_Mutation_p.R84H|HOMER3_ENST00000221222.11_Missense_Mutation_p.R84H|HOMER3_ENST00000355887.6_Missense_Mutation_p.R84H			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	84	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGTGTTGGCGCGACTGTCGGC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15721	0.0		0.0	False		,,,				2504	0.0					ENST00000539827.1																			0				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(250-252)cGc>cAc		homer homolog 3 (Drosophila)							117.0	108.0	111.0					19																	19049214		2203	4300	6503	SO:0001583	missense	0				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19049214C>T	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.251G>A	19.37:g.19049214C>T	ENSP00000439937:p.Arg84His					HOMER3_ENST00000392351.3_Missense_Mutation_p.R84H|HOMER3_ENST00000221222.11_Missense_Mutation_p.R84H|HOMER3_ENST00000433218.2_Missense_Mutation_p.R84H|HOMER3_ENST00000355887.6_Missense_Mutation_p.R84H|HOMER3_ENST00000594439.1_Missense_Mutation_p.R84H|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000542541.2_Missense_Mutation_p.R84H	p.R84H			Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		3	903	-			84			WH1.		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Missense_Mutation	SNP	ENST00000539827.1	37	c.251G>A	CCDS12391.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758863	0.69763	.	.	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000357832;ENST00000355887	D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	4.22	4.22	0.49857	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.98891	1.0773	10	0.87932	D	0	.	15.7601	0.78073	0.0:1.0:0.0:0.0	.	84;84;84	E9PCW9;Q9NSC5-2;Q9NSC5	.;.;HOME3_HUMAN	H	84	ENSP00000376162:R84H;ENSP00000396154:R84H;ENSP00000446026:R84H;ENSP00000221222:R84H;ENSP00000439937:R84H;ENSP00000348150:R84H	ENSP00000221222:R84H	R	-	2	0	HOMER3	18910214	0.998000	0.40836	0.960000	0.40013	0.176000	0.22953	5.796000	0.69080	2.184000	0.69523	0.561000	0.74099	CGC		0.592	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			21	40	0	0	0	1	0	21	40				
MT2A	4502	broad.mit.edu	37	16	56642952	56642952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56642952G>A	ENST00000245185.5	+	2	534	c.77G>A	c.(76-78)tGc>tAc	p.C26Y	MT2A_ENST00000561491.1_Missense_Mutation_p.C26Y|MT2A_ENST00000563985.1_3'UTR|RP11-249C24.10_ENST00000569778.1_lincRNA	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	26	Beta.				cellular copper ion homeostasis (GO:0006878)|cellular response to drug (GO:0035690)|cellular response to erythropoietin (GO:0036018)|cellular response to interleukin-3 (GO:0036016)|cellular response to zinc ion (GO:0071294)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	drug binding (GO:0008144)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GAGTGCAAATGCACCTCCTGC	0.542																																						ENST00000245185.5																			0				breast(1)|endometrium(1)|lung(1)	3						c.(76-78)tGc>tAc		metallothionein 2A							64.0	64.0	64.0					16																	56642952		2198	4300	6498	SO:0001583	missense	4502				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding	g.chr16:56642952G>A	BC007034	CCDS10763.1	16q13	2012-10-02			ENSG00000125148	ENSG00000125148		"""Metallothioneins"""	7406	protein-coding gene	gene with protein product		156360		MT2		7133118	Standard	NM_005953		Approved		uc002ejh.3	P02795	OTTHUMG00000133281	ENST00000245185.5:c.77G>A	16.37:g.56642952G>A	ENSP00000245185:p.Cys26Tyr					MT2A_ENST00000563985.1_3'UTR|MT2A_ENST00000561491.1_Missense_Mutation_p.C26Y	p.C26Y	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN			2	534	+			26			Beta.		Q14823|Q2HXR9|Q53XT9	Missense_Mutation	SNP	ENST00000245185.5	37	c.77G>A	CCDS10763.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454094	0.43634	.	.	ENSG00000125148	ENST00000245185	T	0.58797	0.31	5.06	5.06	0.68205	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000002	T	0.76292	0.3967	.	.	.	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.79843	-0.1632	9	0.87932	D	0	.	15.3407	0.74293	0.0:0.0:1.0:0.0	.	26	P02795	MT2_HUMAN	Y	26	ENSP00000245185:C26Y	ENSP00000245185:C26Y	C	+	2	0	MT2A	55200453	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.412000	0.80091	2.347000	0.79759	0.557000	0.71058	TGC		0.542	MT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257061.1	NM_005953		22	30	0	0	0	1	0	22	30				
DIP2B	57609	broad.mit.edu	37	12	51089654	51089654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51089654C>T	ENST00000301180.5	+	16	1871	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	613						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGTAAAATGTCGGGACTTGCA	0.398																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1837-1839)Cgg>Tgg		DIP2 disco-interacting protein 2 homolog B (Drosophila)							159.0	144.0	149.0					12																	51089654		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51089654C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1837C>T	12.37:g.51089654C>T	ENSP00000301180:p.Arg613Trp						p.R613W	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			16	1871	+			613					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1837C>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597399	0.87055	.	.	ENSG00000066084	ENST00000301180	T	0.40225	1.04	4.96	4.96	0.65561	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71241	-0.4651	10	0.42905	T	0.14	-9.1545	18.3922	0.90487	0.0:1.0:0.0:0.0	.	613	Q9P265	DIP2B_HUMAN	W	613	ENSP00000301180:R613W	ENSP00000301180:R613W	R	+	1	2	DIP2B	49375921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.286000	0.43496	2.582000	0.87167	0.555000	0.69702	CGG		0.398	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		41	79	0	0	0	1	0	41	79				
PSMC3IP	29893	broad.mit.edu	37	17	40725521	40725521	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40725521T>C	ENST00000393795.3	-	5	566	c.458A>G	c.(457-459)cAt>cGt	p.H153R	PSMC3IP_ENST00000587209.1_Missense_Mutation_p.H90R|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.H28R|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.H141R	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	153	DNA binding. {ECO:0000250}.				DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGAGTCACATGATTGGTAGC	0.522																																						ENST00000393795.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7						c.(457-459)cAt>cGt		PSMC3 interacting protein							236.0	230.0	232.0					17																	40725521		2203	4300	6503	SO:0001583	missense	29893				DNA recombination|meiosis	nucleus	DNA binding	g.chr17:40725521T>C	AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"""Proteasome (prosome, macropain) subunits"""	17928	protein-coding gene	gene with protein product	"""TBP-1 interacting protein"""	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.458A>G	17.37:g.40725521T>C	ENSP00000377384:p.His153Arg					PSMC3IP_ENST00000587209.1_Missense_Mutation_p.H90R|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.H141R|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.H28R	p.H153R	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	5	566	-		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)	153			DNA binding (By similarity).		C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	ENST00000393795.3	37	c.458A>G	CCDS45688.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.920608	0.52653	.	.	ENSG00000131470	ENST00000393795;ENST00000253789	T;T	0.42513	0.97;0.97	5.93	5.93	0.95920	.	0.047556	0.85682	D	0.000000	T	0.46014	0.1371	M	0.80982	2.52	0.58432	D	0.999997	P;P	0.37423	0.539;0.594	B;B	0.35813	0.134;0.211	T	0.45934	-0.9227	10	0.14252	T	0.57	-24.567	16.3756	0.83387	0.0:0.0:0.0:1.0	.	141;153	Q9P2W1-2;Q9P2W1	.;HOP2_HUMAN	R	153;141	ENSP00000377384:H153R;ENSP00000253789:H141R	ENSP00000253789:H141R	H	-	2	0	PSMC3IP	37979047	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.716000	0.54904	2.270000	0.75569	0.460000	0.39030	CAT		0.522	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		25	195	0	0	0	1	0	25	195				
FAM189B	10712	broad.mit.edu	37	1	155218211	155218211	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155218211A>G	ENST00000361361.2	-	10	2073	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P	FAM189B_ENST00000368368.3_Missense_Mutation_p.S504P|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.S426P	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	522						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTGCAGAGGAAACAGAAGCA	0.532																																						ENST00000361361.2																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1564-1566)Tcc>Ccc		family with sequence similarity 189, member B							113.0	110.0	111.0					1																	155218211		2203	4300	6503	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155218211A>G	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1564T>C	1.37:g.155218211A>G	ENSP00000354958:p.Ser522Pro					FAM189B_ENST00000368368.3_Missense_Mutation_p.S504P|FAM189B_ENST00000350210.2_Missense_Mutation_p.S426P	p.S522P	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN			10	2073	-			522					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1564T>C	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563333	0.65651	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.03745	3.82;3.82;3.82;3.82	3.85	3.85	0.44370	.	0.207166	0.31233	N	0.008020	T	0.02418	0.0074	N	0.08118	0	0.30370	N	0.782941	D;D;D;D	0.69078	0.997;0.967;0.981;0.967	D;D;D;D	0.78314	0.991;0.939;0.972;0.939	T	0.48127	-0.9062	10	0.41790	T	0.15	.	9.2836	0.37744	1.0:0.0:0.0:0.0	.	287;504;426;522	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	P	426;504;522;205;244	ENSP00000307128:S426P;ENSP00000357352:S504P;ENSP00000354958:S522P;ENSP00000427011:S244P	ENSP00000323164:S205P	S	-	1	0	FAM189B	153484835	0.997000	0.39634	0.945000	0.38365	0.968000	0.65278	3.234000	0.51320	1.768000	0.52137	0.449000	0.29647	TCC		0.532	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		20	25	0	0	0	1	0	20	25				
CTNNA2	1496	broad.mit.edu	37	2	80801376	80801376	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:80801376C>T	ENST00000402739.4	+	12	1835	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	CTNNA2_ENST00000343114.3_Silent_p.I289I|CTNNA2_ENST00000540488.1_Silent_p.I610I|CTNNA2_ENST00000496558.1_Silent_p.I610I|CTNNA2_ENST00000361291.4_Silent_p.I644I|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Silent_p.I610I|CTNNA2_ENST00000466387.1_Silent_p.I610I|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	610					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATGAGTTCATCGATGCCTCTC	0.517																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1828-1830)atC>atT		catenin (cadherin-associated protein), alpha 2							181.0	173.0	175.0					2																	80801376		2142	4275	6417	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801376C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1830C>T	2.37:g.80801376C>T						CTNNA2_ENST00000541047.1_Silent_p.I610I|CTNNA2_ENST00000496558.1_Silent_p.I610I|CTNNA2_ENST00000402739.4_Silent_p.I610I|CTNNA2_ENST00000343114.3_Silent_p.I289I|CTNNA2_ENST00000540488.1_Silent_p.I610I|CTNNA2_ENST00000361291.4_Silent_p.I644I	p.I610I			P26232	CTNA2_HUMAN			17	2554	+			610					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1830C>T																																																																																					0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		4	90	0	0	0	1	0	4	90				
PDE4C	5143	broad.mit.edu	37	19	18324238	18324238	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18324238C>T	ENST00000355502.3	-	17	2419	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	PDE4C_ENST00000598111.2_Silent_p.E231E|PDE4C_ENST00000594617.3_Silent_p.E516E|PDE4C_ENST00000539010.1_Silent_p.E285E|PDE4C_ENST00000262805.12_Silent_p.E484E|PDE4C_ENST00000447275.3_Silent_p.E410E|PDE4C_ENST00000594465.3_Silent_p.E516E|PDE4C_ENST00000597297.1_Silent_p.E286E|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	516					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCTTCTTGGTCTCCACCATGG	0.572																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1546-1548)gaG>gaA		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						149.0	118.0	128.0					19																	18324238		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18324238C>T		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1548G>A	19.37:g.18324238C>T						AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.E516E|PDE4C_ENST00000539010.1_Silent_p.E285E|PDE4C_ENST00000447275.2_Silent_p.E410E|PDE4C_ENST00000262805.11_Silent_p.E484E|PDE4C_ENST00000594617.2_Silent_p.E516E	p.E516E			Q08493	PDE4C_HUMAN			17	2419	-			516					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.1548G>A	CCDS12373.1																																																																																				0.572	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			4	15	0	0	0	1	0	4	15				
PLXNA2	5362	broad.mit.edu	37	1	208217962	208217962	+	Silent	SNP	G	G	A	rs139061737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208217962G>A	ENST00000367033.3	-	20	4522	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1255					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAATGAGGACGATGATGACGA	0.582																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3763-3765)atC>atT		plexin A2		G		0,4406		0,0,2203	107.0	92.0	97.0		3765	0.8	1.0	1	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLXNA2	NM_025179.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1255/1895	208217962	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208217962G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3765C>T	1.37:g.208217962G>A							p.I1255I	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	20	4522	-			1255					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.3765C>T	CCDS31013.1																																																																																				0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		24	22	0	0	0	1	0	24	22				
GLS	2744	broad.mit.edu	37	2	191818290	191818290	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191818290G>T	ENST00000320717.3	+	15	1908		c.e15-1		GLS_ENST00000409428.1_Splice_Site	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TTTCTTCACAGGTAAAGTCAG	0.403																																						ENST00000320717.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.e15-1		glutaminase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						287.0	266.0	273.0					2																	191818290		2203	4300	6503	SO:0001630	splice_region_variant	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191818290G>T	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1651-1G>T	2.37:g.191818290G>T						GLS_ENST00000409428.1_Splice_Site		NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		15	1908	+								Q9UL05|Q9UL06|Q9UL07|Q9UN40	Splice_Site	SNP	ENST00000320717.3	37		CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742429	0.89573	.	.	ENSG00000115419	ENST00000320717;ENST00000457316;ENST00000409428;ENST00000412247	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLS	191526535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.232000	0.95325	2.894000	0.99253	0.591000	0.81541	.		0.403	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2		Intron	11	166	1	0	1.08611e-07	1	1.2824e-07	11	166				
SLC15A4	121260	broad.mit.edu	37	12	129299482	129299482	+	Missense_Mutation	SNP	G	G	A	rs376967004	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129299482G>A	ENST00000266771.5	-	2	719	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	227					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.A227V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGGGATCGCATAACCAGT	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		19073	0.0		0.0	False		,,,				2504	0.002					ENST00000266771.5																			1	Substitution - Missense(1)	p.A227V(1)	large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(679-681)gCg>gTg		solute carrier family 15 (oligopeptide transporter), member 4		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	218.0	199.0	206.0		680	-3.1	0.0	12		206	0,8600		0,0,4300	no	missense	SLC15A4	NM_145648.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	227/578	129299482	1,13005	2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129299482G>A	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.680C>T	12.37:g.129299482G>A	ENSP00000266771:p.Ala227Val					SLC15A4_ENST00000539703.1_5'UTR	p.A227V	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	2	719	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		227					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.680C>T	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270821	0.23221	2.27E-4	0.0	ENSG00000139370	ENST00000266771	T	0.58506	0.33	5.79	-3.06	0.05379	Major facilitator superfamily domain, general substrate transporter (1);	1.494670	0.04668	N	0.410132	T	0.41858	0.1177	N	0.21373	0.66	0.09310	N	0.999991	B	0.22080	0.064	B	0.20184	0.028	T	0.31806	-0.9930	10	0.36615	T	0.2	.	9.1126	0.36737	0.4428:0.1099:0.4473:0.0	.	227	Q8N697	S15A4_HUMAN	V	227	ENSP00000266771:A227V	ENSP00000266771:A227V	A	-	2	0	SLC15A4	127865435	1.000000	0.71417	0.003000	0.11579	0.583000	0.36354	2.423000	0.44705	-0.468000	0.06922	-0.140000	0.14226	GCG		0.498	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		43	72	0	0	0	1	0	43	72				
IFT52	51098	broad.mit.edu	37	20	42232516	42232516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42232516C>T	ENST00000373030.3	+	4	454	c.324C>T	c.(322-324)atC>atT	p.I108I	IFT52_ENST00000373039.4_Silent_p.I108I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	108					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AATATGGAATCATGGTTAATA	0.343																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(322-324)atC>atT		intraflagellar transport 52 homolog (Chlamydomonas)							79.0	84.0	82.0					20																	42232516		2202	4298	6500	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42232516C>T	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.324C>T	20.37:g.42232516C>T						IFT52_ENST00000373039.4_Silent_p.I108I	p.I108I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	454	+		Myeloproliferative disorder(115;0.00452)	108					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.324C>T	CCDS33470.1																																																																																				0.343	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		18	30	0	0	0	1	0	18	30				
MMP3	4314	broad.mit.edu	37	11	102713310	102713310	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102713310C>T	ENST00000299855.5	-	3	607	c.351G>A	c.(349-351)agG>agA	p.R117R		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	117					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AATTCACAATCCTGTAGGAGA	0.378																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.e3-1		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						91.0	94.0	93.0					11																	102713310		2203	4299	6502	SO:0001630	splice_region_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713310C>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.351-1G>A	11.37:g.102713310C>T							p.R117_splice	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	3	607	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	117					B2R8B8|Q3B7S0|Q6GRF8	Splice_Site	SNP	ENST00000299855.5	37	c.350_splice	CCDS8323.1																																																																																				0.378	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	Silent	41	53	0	0	0	1	0	41	53				
TXNRD2	10587	broad.mit.edu	37	22	19882975	19882975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19882975C>T	ENST00000400521.1	-	11	910	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000400519.1_Missense_Mutation_p.G301S|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G301S|TXNRD2_ENST00000334363.9_Missense_Mutation_p.G302S	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	302					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCCTCCTTGCCGGTGGTGCTG	0.662																																						ENST00000400519.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(901-903)Ggc>Agc		thioredoxin reductase 2							130.0	151.0	144.0					22																	19882975		2166	4256	6422	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19882975C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.904G>A	22.37:g.19882975C>T	ENSP00000383365:p.Gly302Ser					TXNRD2_ENST00000400521.1_Missense_Mutation_p.G302S|TXNRD2_ENST00000400525.1_Missense_Mutation_p.G279S|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000334363.9_Missense_Mutation_p.G302S|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G301S	p.G301S			Q9NNW7	TRXR2_HUMAN			11	900	-	Colorectal(54;0.0993)		302					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.901G>A	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528032	0.27299	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;1.14	4.26	4.26	0.50523	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.180752	0.47852	D	0.000215	T	0.50292	0.1607	N	0.03930	-0.32	0.38900	D	0.957292	B;P;B;B	0.36171	0.343;0.541;0.289;0.343	B;B;B;B	0.42422	0.104;0.387;0.299;0.104	T	0.62859	-0.6765	10	0.52906	T	0.07	-9.0214	15.2561	0.73585	0.0:1.0:0.0:0.0	.	302;302;270;301	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	S	272;302;302;279;206;301;301;272;302	ENSP00000383362:G272S;ENSP00000383365:G302S;ENSP00000383369:G279S;ENSP00000383363:G301S;ENSP00000439314:G301S;ENSP00000439570:G272S;ENSP00000334451:G302S	ENSP00000334451:G302S	G	-	1	0	TXNRD2	18262975	0.985000	0.35326	0.683000	0.30040	0.028000	0.11728	2.693000	0.47027	2.106000	0.64143	0.462000	0.41574	GGC		0.662	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		44	93	0	0	0	1	0	44	93				
SSUH2	51066	broad.mit.edu	37	3	8667996	8667996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8667996C>T	ENST00000317371.4	-	16	1845	c.620G>A	c.(619-621)tGc>tAc	p.C207Y	SSUH2_ENST00000544814.1_Missense_Mutation_p.C229Y|SSUH2_ENST00000415132.1_Missense_Mutation_p.C207Y|SSUH2_ENST00000341795.3_Missense_Mutation_p.C207Y			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	207	Cys-rich.					cytoplasm (GO:0005737)		p.C207F(1)									TCTCCCTGAGCAAGTGCTGCA	0.572																																						ENST00000317371.4																			1	Substitution - Missense(1)	p.C207F(1)	lung(1)								c.(619-621)tGc>tAc		ssu-2 homolog (C. elegans)							191.0	154.0	167.0					3																	8667996		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8667996C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.620G>A	3.37:g.8667996C>T	ENSP00000324551:p.Cys207Tyr					SSUH2_ENST00000544814.1_Missense_Mutation_p.C229Y|SSUH2_ENST00000415132.1_Missense_Mutation_p.C207Y|SSUH2_ENST00000341795.3_Missense_Mutation_p.C207Y	p.C207Y							16	1845	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.620G>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159138	0.38119	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	D;D;D;D	0.88818	-2.35;-2.35;-2.43;-2.37	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.94255	0.8155	M	0.84683	2.71	0.52099	D	0.999948	D;D	0.89917	1.0;0.998	D;D	0.69479	0.964;0.947	D	0.94897	0.8053	10	0.72032	D	0.01	-20.1716	13.5949	0.61984	0.0:1.0:0.0:0.0	.	229;207	F5H2S5;Q9Y2M2	.;CC032_HUMAN	Y	207;207;207;229	ENSP00000339150:C207Y;ENSP00000324551:C207Y;ENSP00000410757:C207Y;ENSP00000439378:C229Y	ENSP00000324551:C207Y	C	-	2	0	C3orf32	8642996	1.000000	0.71417	0.997000	0.53966	0.029000	0.11900	4.377000	0.59562	2.270000	0.75569	0.591000	0.81541	TGC		0.572	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		5	86	0	0	0	1	0	5	86				
RGS18	64407	broad.mit.edu	37	1	192150425	192150425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192150425G>A	ENST00000367460.3	+	4	468	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	96	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGATAGATGGACTAGAGGCT	0.269																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(286-288)gGa>gAa		regulator of G-protein signaling 18							27.0	30.0	29.0					1																	192150425		2138	4261	6399	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150425G>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.287G>A	1.37:g.192150425G>A	ENSP00000356430:p.Gly96Glu						p.G96E	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			4	468	+			96			RGS.		B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.287G>A	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031924	0.75504	.	.	ENSG00000150681	ENST00000367460	T	0.02916	4.11	5.66	4.74	0.60224	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	H	0.95645	3.7	0.80722	D	1	P	0.36438	0.553	P	0.50378	0.639	T	0.00183	-1.1945	10	0.87932	D	0	.	13.7999	0.63192	0.0761:0.0:0.9239:0.0	.	96	Q9NS28	RGS18_HUMAN	E	96	ENSP00000356430:G96E	ENSP00000356430:G96E	G	+	2	0	RGS18	190417048	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	6.395000	0.73228	2.678000	0.91216	0.460000	0.39030	GGA		0.269	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		26	27	0	0	0	1	0	26	27				
ELN	2006	broad.mit.edu	37	7	73456972	73456972	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73456972T>C	ENST00000252034.7	+	6	660	c.261T>C	c.(259-261)ttT>ttC	p.F87F	ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Silent_p.F87F|ELN_ENST00000358929.4_Silent_p.F87F|ELN_ENST00000429192.1_Silent_p.F87F|ELN_ENST00000320399.6_Silent_p.F87F|ELN_ENST00000445912.1_Silent_p.F87F|ELN_ENST00000380575.4_Silent_p.F77F|ELN_ENST00000380576.5_Silent_p.F87F|ELN_ENST00000380584.4_Silent_p.F87F|ELN_ENST00000320492.7_Silent_p.F75F|ELN_ENST00000458204.1_Silent_p.F77F|ELN_ENST00000357036.5_Silent_p.F87F|ELN_ENST00000414324.1_Silent_p.F77F	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	87					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGTTACCTTTCCGGGGGCTC	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(259-261)ttT>ttC		elastin	Rofecoxib(DB00533)						59.0	60.0	60.0					7																	73456972		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73456972T>C		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.261T>C	7.37:g.73456972T>C						ELN_ENST00000380575.4_Silent_p.F77F|ELN_ENST00000380562.4_Silent_p.F87F|ELN_ENST00000320492.7_Silent_p.F75F|ELN_ENST00000380553.4_Intron|ELN_ENST00000357036.5_Silent_p.F87F|ELN_ENST00000380584.4_Silent_p.F87F|ELN_ENST00000320399.6_Silent_p.F87F|ELN_ENST00000458204.1_Silent_p.F77F|ELN_ENST00000380576.5_Silent_p.F87F|ELN_ENST00000445912.1_Silent_p.F87F|ELN_ENST00000414324.1_Silent_p.F77F|ELN_ENST00000429192.1_Silent_p.F87F|ELN_ENST00000358929.4_Silent_p.F87F	p.F87F	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			6	660	+		Lung NSC(55;0.159)	87					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.261T>C	CCDS5562.2																																																																																				0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		7	98	0	0	0	1	0	7	98				
KLHL22	84861	broad.mit.edu	37	22	20796502	20796502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20796502G>A	ENST00000328879.4	-	7	1919	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V	KLHL22_ENST00000440659.2_Missense_Mutation_p.A445V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	588					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCACACAGGCCGCCAGGCC	0.667																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1762-1764)gCc>gTc		kelch-like family member 22							37.0	39.0	38.0					22																	20796502		2202	4299	6501	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20796502G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1763C>T	22.37:g.20796502G>A	ENSP00000331682:p.Ala588Val					KLHL22_ENST00000440659.2_Missense_Mutation_p.A445V	p.A588V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		7	1919	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	588					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1763C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275192	0.95459	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.66815	-0.23;-0.23	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	L	0.34521	1.04	0.58432	D	0.999993	D	0.61080	0.989	P	0.57846	0.828	T	0.60177	-0.7314	10	0.02654	T	1	.	17.2701	0.87098	0.0:0.0:1.0:0.0	.	588	Q53GT1	KLH22_HUMAN	V	588;445	ENSP00000331682:A588V;ENSP00000405521:A445V	ENSP00000331682:A588V	A	-	2	0	KLHL22	19126502	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.102000	0.94226	2.687000	0.91594	0.563000	0.77884	GCC		0.667	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		8	22	0	0	0	1	0	8	22				
SYNJ1	8867	broad.mit.edu	37	21	34018894	34018894	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34018894C>A	ENST00000322229.7	-	23	3055	c.3056G>T	c.(3055-3057)aGt>aTt	p.S1019I	SYNJ1_ENST00000382499.2_Missense_Mutation_p.S1058I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1058I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1014I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1019I			O43426	SYNJ1_HUMAN	synaptojanin 1	1019	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACTTCAGCACTATAGTCATC	0.448																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(3172-3174)aGt>aTt		synaptojanin 1							83.0	81.0	82.0					21																	34018894		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34018894C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3056G>T	21.37:g.34018894C>A	ENSP00000322234:p.Ser1019Ile					SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1014I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1058I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1019I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1019I	p.S1058I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			24	3172	-			1019			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.3173G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153801	0.38021	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.94092	-2.47;-3.34;-3.35;-2.57;-2.53	5.52	3.7	0.42460	.	0.315977	0.42682	D	0.000680	D	0.91603	0.7347	L	0.27053	0.805	0.44432	D	0.997351	B;P;D;P;B	0.57571	0.164;0.638;0.98;0.822;0.4	B;B;P;B;B	0.55508	0.04;0.231;0.777;0.227;0.318	D	0.91505	0.5222	10	0.59425	D	0.04	.	11.1679	0.48554	0.0:0.8532:0.0:0.1468	.	1014;1058;1019;1019;1019	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	1014;1019;1058;1058;1019	ENSP00000371931:S1014I;ENSP00000349903:S1019I;ENSP00000371939:S1058I;ENSP00000409667:S1058I;ENSP00000322234:S1019I	ENSP00000322234:S1019I	S	-	2	0	SYNJ1	32940765	0.998000	0.40836	0.155000	0.22561	0.918000	0.54935	2.204000	0.42761	1.319000	0.45190	0.655000	0.94253	AGT		0.448	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				31	26	1	0	6.38683e-12	1	7.9998e-12	31	26				
STOX1	219736	broad.mit.edu	37	10	70645583	70645583	+	Silent	SNP	C	C	T	rs549672857	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70645583C>T	ENST00000298596.6	+	3	2114	c.2031C>T	c.(2029-2031)ggC>ggT	p.G677G	STOX1_ENST00000421961.2_Silent_p.G567G|STOX1_ENST00000399169.4_Silent_p.G677G|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	677						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACCCAGTTGGCGTGAACCCTT	0.428													C|||	3	0.000599042	0.0	0.0	5008	,	,		22386	0.0		0.0	False		,,,				2504	0.0031					ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2029-2031)ggC>ggT		storkhead box 1							133.0	121.0	125.0					10																	70645583		1878	4118	5996	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645583C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2031C>T	10.37:g.70645583C>T						STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.G677G|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.G567G	p.G677G	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2114	+			677					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.2031C>T	CCDS41535.1																																																																																				0.428	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		51	70	0	0	0	1	0	51	70				
IQSEC1	9922	broad.mit.edu	37	3	12954952	12954952	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12954952G>T	ENST00000273221.4	-	9	2550	c.2334C>A	c.(2332-2334)atC>atA	p.I778I		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	778	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAACAGGAAGATTTCTCGCT	0.577																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2332-2334)atC>atA		IQ motif and Sec7 domain 1							146.0	114.0	125.0					3																	12954952		2202	4300	6502	SO:0001819	synonymous_variant	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12954952G>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2334C>A	3.37:g.12954952G>T							p.I778I	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			9	2550	-			778			PH.		O94863|Q96D85	Silent	SNP	ENST00000273221.4	37	c.2334C>A	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338999	0.24253	.	.	ENSG00000144711	ENST00000450726	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63510	-0.6621	4	.	.	.	.	13.1787	0.59642	0.0:0.0:0.7987:0.2013	.	.	.	.	I	779	.	.	L	-	1	0	IQSEC1	12929952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.189000	0.42621	2.301000	0.77427	0.655000	0.94253	CTT		0.577	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		3	13	1	0	6.4e-05	1	7.11719e-05	3	13				
PRLR	5618	broad.mit.edu	37	5	35070320	35070320	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35070320A>T	ENST00000382002.5	-	7	1017	c.591T>A	c.(589-591)caT>caA	p.H197Q	PRLR_ENST00000348262.3_Missense_Mutation_p.H197Q|PRLR_ENST00000542609.1_Missense_Mutation_p.H197Q|PRLR_ENST00000231423.3_Missense_Mutation_p.H197Q|PRLR_ENST00000397391.3_Missense_Mutation_p.H126Q|PRLR_ENST00000511486.1_Missense_Mutation_p.H96Q|PRLR_ENST00000342362.5_Missense_Mutation_p.H96Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.H197Q|PRLR_ENST00000513753.1_Missense_Mutation_p.H197Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TCTGTCCTGGATGTAGGCTGA	0.438																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(589-591)caT>caA		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						113.0	96.0	102.0					5																	35070320		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35070320A>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.591T>A	5.37:g.35070320A>T	ENSP00000371432:p.His197Gln					PRLR_ENST00000511486.1_Missense_Mutation_p.H96Q|PRLR_ENST00000513753.1_Missense_Mutation_p.H197Q|PRLR_ENST00000397391.3_Missense_Mutation_p.H126Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Missense_Mutation_p.H197Q|PRLR_ENST00000231423.3_Missense_Mutation_p.H197Q|PRLR_ENST00000310101.5_Missense_Mutation_p.H197Q|PRLR_ENST00000342362.5_Missense_Mutation_p.H96Q|PRLR_ENST00000542609.1_Missense_Mutation_p.H197Q	p.H197Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		7	1017	-	all_lung(31;3.83e-05)		197			Fibronectin type-III 2.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.591T>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314788	0.23908	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.13	2.76	0.32466	Fibronectin, type III (3);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.532219	0.20930	N	0.083102	T	0.15046	0.0363	N	0.16130	0.375	0.26403	N	0.976381	B;B;B;B;B;B;B	0.27765	0.001;0.118;0.188;0.03;0.002;0.002;0.002	B;B;B;B;B;B;B	0.23150	0.003;0.02;0.044;0.01;0.003;0.002;0.006	T	0.17198	-1.0377	10	0.23891	T	0.37	-3.649	8.0977	0.30837	0.7:0.0:0.3:0.0	.	197;197;96;126;197;197;197	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	Q	197;197;197;126;197;96;197;96;197	ENSP00000231423:H197Q;ENSP00000424841:H197Q;ENSP00000311613:H197Q;ENSP00000380546:H126Q;ENSP00000441813:H197Q;ENSP00000339213:H96Q;ENSP00000371432:H197Q;ENSP00000422556:H96Q;ENSP00000309008:H197Q	ENSP00000231423:H197Q	H	-	3	2	PRLR	35106077	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.643000	0.37217	0.986000	0.38683	0.533000	0.62120	CAT		0.438	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			21	39	0	0	0	1	0	21	39				
TEP1	7011	broad.mit.edu	37	14	20854314	20854314	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20854314G>A	ENST00000262715.5	-	20	2942	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	TEP1_ENST00000556935.1_Silent_p.L860L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	968					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCACAAACAGCTGTGCGTTC	0.542																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2902-2904)Ctg>Ttg		telomerase-associated protein 1							128.0	117.0	121.0					14																	20854314		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20854314G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2902C>T	14.37:g.20854314G>A						TEP1_ENST00000556935.1_Silent_p.L860L	p.L968L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	20	2942	-	all_cancers(95;0.00123)	all_lung(585;0.235)	968					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.2902C>T	CCDS9548.1																																																																																				0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		8	93	0	0	0	1	0	8	93				
METTL20	254013	broad.mit.edu	37	12	31819145	31819145	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31819145G>T	ENST00000357721.3	+	3	654	c.439G>T	c.(439-441)Gac>Tac	p.D147Y	METTL20_ENST00000395763.3_Missense_Mutation_p.D147Y|METTL20_ENST00000538391.1_Intron|METTL20_ENST00000538463.1_Missense_Mutation_p.D147Y|METTL20_ENST00000412352.2_Missense_Mutation_p.D147Y	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	147						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						CAATGACATAGACCCTAGTAA	0.383																																						ENST00000357721.3																			0				lung(2)|stomach(1)	3						c.(439-441)Gac>Tac		methyltransferase like 20							137.0	132.0	134.0					12																	31819145		2203	4300	6503	SO:0001583	missense	254013					cytoplasm	protein methyltransferase activity	g.chr12:31819145G>T	BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.439G>T	12.37:g.31819145G>T	ENSP00000350353:p.Asp147Tyr					METTL20_ENST00000538391.1_Intron|METTL20_ENST00000538463.1_Missense_Mutation_p.D147Y|METTL20_ENST00000412352.2_Missense_Mutation_p.D147Y|METTL20_ENST00000395763.3_Missense_Mutation_p.D147Y	p.D147Y	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN			3	654	+			147					D3DUW3	Missense_Mutation	SNP	ENST00000357721.3	37	c.439G>T	CCDS8724.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424901	0.83667	.	.	ENSG00000139160	ENST00000412352;ENST00000395763;ENST00000538463;ENST00000357721	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.28	5.28	0.74379	.	0.098018	0.64402	D	0.000002	D	0.96488	0.8854	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97646	1.0151	10	0.66056	D	0.02	-16.9224	19.1187	0.93353	0.0:0.0:1.0:0.0	.	147	Q8IXQ9	MET20_HUMAN	Y	147	ENSP00000396123:D147Y;ENSP00000379112:D147Y;ENSP00000441421:D147Y;ENSP00000350353:D147Y	ENSP00000350353:D147Y	D	+	1	0	METTL20	31710412	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.553000	0.73918	2.742000	0.94016	0.655000	0.94253	GAC		0.383	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402196.1	NM_173802		21	84	1	0	4.16121e-05	1	4.63705e-05	21	84				
FKTN	2218	broad.mit.edu	37	9	108380347	108380347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108380347C>T	ENST00000223528.2	+	8	1142	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	FKTN_ENST00000448551.2_Missense_Mutation_p.L340F|FKTN_ENST00000602661.1_Missense_Mutation_p.L340F|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000357998.5_Missense_Mutation_p.L340F	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	340					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GGATGCAGGACTTCCGCTCAA	0.333																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1018-1020)Ctt>Ttt		fukutin							44.0	44.0	44.0					9																	108380347		2203	4299	6502	SO:0001583	missense	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108380347C>T		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1018C>T	9.37:g.108380347C>T	ENSP00000223528:p.Leu340Phe					FKTN_ENST00000540160.1_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.L340F|FKTN_ENST00000448551.2_Missense_Mutation_p.L340F|FKTN_ENST00000357998.5_Missense_Mutation_p.L340F	p.L340F	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			8	1142	+			340					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	c.1018C>T	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667668	0.67814	.	.	ENSG00000106692	ENST00000223528;ENST00000357998	D;D	0.90385	-2.34;-2.66	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	N	0.25144	0.715	0.80722	D	1	D;D	0.54397	0.964;0.966	P;P	0.58520	0.84;0.646	D	0.86044	0.1521	10	0.21014	T	0.42	-2.0459	13.361	0.60657	0.0:0.9245:0.0:0.0755	.	340;340	B4DUX9;O75072	.;FKTN_HUMAN	F	340	ENSP00000223528:L340F;ENSP00000350687:L340F	ENSP00000223528:L340F	L	+	1	0	FKTN	107420168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.501000	0.45389	2.857000	0.98124	0.650000	0.86243	CTT		0.333	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		16	24	0	0	0	1	0	16	24				
NUMA1	4926	broad.mit.edu	37	11	71725431	71725431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71725431C>T	ENST00000393695.3	-	15	3449	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1040K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACACGCTGCTCGTTGAGGGCG	0.647			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3118-3120)Gag>Aag		nuclear mitotic apparatus protein 1							50.0	51.0	50.0					11																	71725431		2199	4293	6492	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725431C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3118G>A	11.37:g.71725431C>T	ENSP00000377298:p.Glu1040Lys					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1040K|RP11-849H4.4_ENST00000502284.1_RNA	p.E1040K	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3449	-			1040						Missense_Mutation	SNP	ENST00000393695.3	37	c.3118G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010106	0.54361	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.15256	2.44;2.45	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000019	T	0.32763	0.0840	L	0.50333	1.59	0.31343	N	0.683423	D;D;D;D	0.89917	1.0;0.998;0.994;1.0	D;P;P;D	0.79108	0.992;0.805;0.777;0.992	T	0.14896	-1.0456	9	.	.	.	.	10.8901	0.46990	0.0:0.913:0.0:0.087	.	1046;524;1040;1040	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	K	1040;1040;603;9	ENSP00000351851:E1040K;ENSP00000377298:E1040K	.	E	-	1	0	NUMA1	71403079	0.983000	0.35010	0.999000	0.59377	0.922000	0.55478	2.749000	0.47492	2.644000	0.89710	0.655000	0.94253	GAG		0.647	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			25	48	0	0	0	1	0	25	48				
RUFY3	22902	broad.mit.edu	37	4	71650590	71650590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71650590A>G	ENST00000226328.4	+	10	1628	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L	RUFY3_ENST00000417478.2_Silent_p.L415L|RUFY3_ENST00000381006.3_Silent_p.L355L|RUFY3_ENST00000502653.1_Silent_p.L302L|RUFY3_ENST00000536664.1_Silent_p.L339L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	355					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGACACAATTACGATTGGTAA	0.348																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(1063-1065)ttA>ttG		RUN and FYVE domain containing 3							61.0	55.0	57.0					4																	71650590		2203	4300	6503	SO:0001819	synonymous_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71650590A>G	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1065A>G	4.37:g.71650590A>G						RUFY3_ENST00000502653.1_Silent_p.L302L|RUFY3_ENST00000536664.1_Silent_p.L339L|RUFY3_ENST00000381006.3_Silent_p.L355L|RUFY3_ENST00000417478.2_Silent_p.L415L	p.L355L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		10	1628	+		all_hematologic(202;0.248)	355					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP	ENST00000226328.4	37	c.1065A>G	CCDS3547.1																																																																																				0.348	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		3	14	0	0	0	1	0	3	14				
IFNAR2	3455	broad.mit.edu	37	21	34635762	34635762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34635762C>A	ENST00000342136.4	+	9	1831	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S502Y|IL10RB_ENST00000290200.2_5'Flank|IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	502					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	AGTGACACTTCTGAGTCAGAT	0.493																																						ENST00000342136.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(1504-1506)tCt>tAt		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						69.0	66.0	67.0					21																	34635762		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34635762C>A		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1505C>A	21.37:g.34635762C>A	ENSP00000343957:p.Ser502Tyr					IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S502Y|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR	p.S502Y			P48551	INAR2_HUMAN			9	1831	+			502					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.1505C>A	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352109	0.41700	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.41065	1.01;1.01	4.48	0.174	0.15040	.	3.503140	0.01968	U	0.043874	T	0.50446	0.1616	L	0.46157	1.445	0.09310	N	1	D	0.61697	0.99	P	0.58577	0.841	T	0.25433	-1.0132	10	0.87932	D	0	.	3.1094	0.06352	0.17:0.4016:0.3313:0.0971	.	502	P48551	INAR2_HUMAN	Y	502	ENSP00000371676:S502Y;ENSP00000343957:S502Y	ENSP00000343957:S502Y	S	+	2	0	IFNAR2	33557632	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.180000	0.16860	-0.066000	0.12998	-0.140000	0.14226	TCT		0.493	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			7	89	1	0	0.0293803	1	0.0301098	7	89				
KRTAP4-3	85290	broad.mit.edu	37	17	39323973	39323973	+	Missense_Mutation	SNP	C	C	T	rs368282974		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39323973C>T	ENST00000391356.2	-	1	451	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	151	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R151H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAAGCCGGGCGGCAGCAGGA	0.632																																						ENST00000391356.2																			1	Substitution - Missense(1)	p.R151H(1)	large_intestine(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12						c.(451-453)cGc>cAc		keratin associated protein 4-3		C	HIS/ARG	1,4223		0,1,2111	17.0	20.0	19.0		452	-2.3	0.0	17		19	0,8500		0,0,4250	no	missense	KRTAP4-3	NM_033187.1	29	0,1,6361	TT,TC,CC		0.0,0.0237,0.0079	benign	151/196	39323973	1,12723	2112	4250	6362	SO:0001583	missense	85290					keratin filament		g.chr17:39323973C>T	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.452G>A	17.37:g.39323973C>T	ENSP00000375151:p.Arg151His						p.R151H	NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	451	-		Breast(137;0.000496)	151			29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].			Missense_Mutation	SNP	ENST00000391356.2	37	c.452G>A	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	11.87	1.769158	0.31320	2.37E-4	0.0	ENSG00000196156	ENST00000391356	T	0.01505	4.82	3.9	-2.29	0.06805	.	0.000000	0.28236	U	0.016081	T	0.02888	0.0086	M	0.85710	2.77	0.09310	N	1	B	0.18461	0.028	B	0.18561	0.022	T	0.31998	-0.9923	10	0.66056	D	0.02	.	4.8704	0.13629	0.1467:0.3447:0.0:0.5086	.	151	Q9BYR4	KRA43_HUMAN	H	151	ENSP00000375151:R151H	ENSP00000375151:R151H	R	-	2	0	KRTAP4-3	36577499	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.435000	0.00472	-0.565000	0.06061	-0.459000	0.05422	CGC		0.632	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			11	7	0	0	0	1	0	11	7				
MARCH6	10299	broad.mit.edu	37	5	10411624	10411624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10411624G>A	ENST00000274140.5	+	19	2003	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	MARCH6_ENST00000503788.1_Missense_Mutation_p.R519H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R322H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R576H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	624					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGCCTTACCGCCGACCTTTA	0.458																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1870-1872)cGc>cAc		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							68.0	65.0	66.0					5																	10411624		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10411624G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1871G>A	5.37:g.10411624G>A	ENSP00000274140:p.Arg624His					MARCH6_ENST00000449913.2_Missense_Mutation_p.R576H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R322H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R519H	p.R624H	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			19	2003	+			624					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1871G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690946	0.48097	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.28	5.28	0.74379	.	0.053131	0.85682	D	0.000000	T	0.14356	0.0347	N	0.01874	-0.695	0.51767	D	0.999933	B;B;B;B	0.13594	0.007;0.003;0.008;0.003	B;B;B;B	0.08055	0.002;0.001;0.003;0.0	T	0.15896	-1.0421	10	0.15952	T	0.53	-17.2758	19.2764	0.94032	0.0:0.0:1.0:0.0	.	519;576;204;624	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	576;519;624;322	ENSP00000414643:R576H;ENSP00000425930:R519H;ENSP00000274140:R624H;ENSP00000424512:R322H	ENSP00000274140:R624H	R	+	2	0	MARCH6	10464624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.368000	0.52357	2.628000	0.89032	0.563000	0.77884	CGC		0.458	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		16	26	0	0	0	1	0	16	26				
CNOT6L	246175	broad.mit.edu	37	4	78647395	78647395	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78647395T>C	ENST00000504123.1	-	11	1511	c.1381A>G	c.(1381-1383)Aca>Gca	p.T461A	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T461A			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	461	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AAGCCATGTGTGATTCTCCCT	0.423																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1381-1383)Aca>Gca		CCR4-NOT transcription complex, subunit 6-like							212.0	196.0	201.0					4																	78647395		1856	4101	5957	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78647395T>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1381A>G	4.37:g.78647395T>C	ENSP00000424896:p.Thr461Ala					CNOT6L_ENST00000264903.4_Missense_Mutation_p.T461A	p.T461A			Q96LI5	CNO6L_HUMAN			11	1511	-			461					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1381A>G		.	.	.	.	.	.	.	.	.	.	T	18.63	3.665496	0.67700	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	D;D;D;T	0.98684	-5.07;-5.07;-5.07;0.93	5.88	5.88	0.94601	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.62723	1.935	0.80722	D	1	B;P	0.39376	0.235;0.67	B;P	0.50537	0.202;0.643	D	0.99246	1.0886	10	0.52906	T	0.07	-3.2916	16.2824	0.82697	0.0:0.0:0.0:1.0	.	434;461	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	A	461;461;468;236	ENSP00000424896:T461A;ENSP00000264903:T461A;ENSP00000425571:T468A;ENSP00000426320:T236A	ENSP00000264903:T461A	T	-	1	0	CNOT6L	78866419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.250000	0.74265	0.533000	0.62120	ACA		0.423	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			23	221	0	0	0	1	0	23	221				
ZNF564	163050	broad.mit.edu	37	19	12638453	12638453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638453G>A	ENST00000339282.7	-	4	665	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R157*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATGTCTTCGAAAGGATTGA	0.418																																						ENST00000339282.7																			1	Substitution - Nonsense(1)	p.R157*(1)	ovary(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(469-471)Cga>Tga		zinc finger protein 564							105.0	112.0	110.0					19																	12638453		2200	4299	6499	SO:0001587	stop_gained	163050							g.chr19:12638453G>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.469C>T	19.37:g.12638453G>A	ENSP00000340004:p.Arg157*					ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.R157*	NM_144976.3	NP_659413.1					4	665	-								B9EGT4|Q6P1K6	Nonsense_Mutation	SNP	ENST00000339282.7	37	c.469C>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803077	0.90623	.	.	ENSG00000249709	ENST00000339282	.	.	.	1.71	0.599	0.17519	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999818	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.4997	0.27511	0.0:0.2715:0.7285:0.0	.	.	.	.	X	157	.	ENSP00000340004:R157X	R	-	1	2	ZNF564	12499453	0.031000	0.19500	0.005000	0.12908	0.937000	0.57800	-0.367000	0.07553	0.271000	0.22005	0.643000	0.83706	CGA		0.418	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		10	82	0	0	0	1	0	10	82				
ALDH9A1	223	broad.mit.edu	37	1	165638676	165638676	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:165638676A>G	ENST00000354775.4	-	7	1246	c.942T>C	c.(940-942)aaT>aaC	p.N314N	ALDH9A1_ENST00000538148.1_Silent_p.N220N	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	290					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTCTTGTGCCATTACAGCAAA	0.348																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(940-942)aaT>aaC		aldehyde dehydrogenase 9 family, member A1	NADH(DB00157)						62.0	61.0	61.0					1																	165638676		2203	4300	6503	SO:0001819	synonymous_variant	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165638676A>G	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.942T>C	1.37:g.165638676A>G						ALDH9A1_ENST00000538148.1_Silent_p.N220N	p.N314N	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN			7	1246	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		290					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	c.942T>C	CCDS1250.2																																																																																				0.348	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			13	40	0	0	0	1	0	13	40				
ENOSF1	55556	broad.mit.edu	37	18	685955	685955	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:685955A>T	ENST00000251101.7	-	10	795	c.707T>A	c.(706-708)aTc>aAc	p.I236N	ENOSF1_ENST00000580982.1_Missense_Mutation_p.I160N|ENOSF1_ENST00000340116.7_Missense_Mutation_p.I257N|ENOSF1_ENST00000319815.6_Missense_Mutation_p.I6N|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I154N|ENOSF1_ENST00000583973.1_5'UTR	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	236					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GTCTCGGATGATTTGGCATCT	0.433																																						ENST00000319815.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(16-18)aTc>aAc		enolase superfamily member 1							184.0	160.0	168.0					18																	685955		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:685955A>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.707T>A	18.37:g.685955A>T	ENSP00000251101:p.Ile236Asn					ENOSF1_ENST00000383578.3_Missense_Mutation_p.I154N|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.I257N|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I236N|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I160N	p.I6N			Q7L5Y1	ENOF1_HUMAN			2	1281	-			236					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.17T>A	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325753	0.60743	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.6	5.6	0.85130	Mandelate racemase/muconate lactonizing enzyme, C-terminal (2);	0.179687	0.49916	D	0.000130	T	0.56124	0.1964	L	0.56199	1.76	0.80722	D	1	D;P;D;P;P	0.64830	0.968;0.87;0.994;0.87;0.923	D;P;D;P;P	0.65443	0.935;0.623;0.933;0.807;0.785	T	0.50276	-0.8847	10	0.21014	T	0.42	.	14.7696	0.69665	1.0:0.0:0.0:0.0	.	257;55;281;236;154	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	N	154;6;236;257	ENSP00000373072:I154N;ENSP00000313346:I6N;ENSP00000251101:I236N;ENSP00000345974:I257N	ENSP00000251101:I236N	I	-	2	0	ENOSF1	675955	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	6.689000	0.74562	2.143000	0.66587	0.459000	0.35465	ATC		0.433	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		6	115	0	0	0	1	0	6	115				
HIPK2	28996	broad.mit.edu	37	7	139281688	139281688	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139281688G>T	ENST00000406875.3	-	12	2586	c.2492C>A	c.(2491-2493)tCc>tAc	p.S831Y	HIPK2_ENST00000428878.2_Missense_Mutation_p.S804Y|HIPK2_ENST00000342645.6_Intron	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	831	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GACACGCTTGGATCGCTGTGG	0.607																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2491-2493)tCc>tAc		homeodomain interacting protein kinase 2							54.0	59.0	57.0					7																	139281688		2129	4254	6383	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139281688G>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2492C>A	7.37:g.139281688G>T	ENSP00000385571:p.Ser831Tyr					HIPK2_ENST00000428878.2_Missense_Mutation_p.S804Y|HIPK2_ENST00000342645.6_Intron	p.S831Y	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			12	2586	-	Melanoma(164;0.205)		831			Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2492C>A		.	.	.	.	.	.	.	.	.	.	G	14.99	2.700062	0.48307	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.52754	0.65;0.66	5.92	5.03	0.67393	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.54753	D	0.999982	P;B	0.37955	0.612;0.023	B;B	0.37091	0.241;0.015	T	0.37820	-0.9689	8	0.41790	T	0.15	.	16.353	0.83224	0.0:0.0:0.867:0.133	.	831;804	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Y	831;804	ENSP00000385571:S831Y;ENSP00000413724:S804Y	ENSP00000385571:S831Y	S	-	2	0	HIPK2	138932228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.057000	0.93889	1.462000	0.47948	0.585000	0.79938	TCC		0.607	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		4	80	1	0	2.56e-06	1	2.9446e-06	4	80				
RPS3	6188	broad.mit.edu	37	11	75115230	75115230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75115230C>T	ENST00000531188.1	+	5	579	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	RPS3_ENST00000278572.6_Missense_Mutation_p.R189C|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000527446.1_Missense_Mutation_p.R173C|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000524851.1_Missense_Mutation_p.R173C|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000526608.1_Missense_Mutation_p.R161C	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	173					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CACTGCTGTGCGCCACGTGTT	0.507																																						ENST00000531188.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(517-519)Cgc>Tgc		ribosomal protein S3							77.0	64.0	69.0					11																	75115230		2200	4293	6493	SO:0001583	missense	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75115230C>T		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.517C>T	11.37:g.75115230C>T	ENSP00000434643:p.Arg173Cys					RPS3_ENST00000524851.1_Missense_Mutation_p.R173C|RPS3_ENST00000278572.6_Missense_Mutation_p.R189C|RPS3_ENST00000526608.1_Missense_Mutation_p.R161C|RPS3_ENST00000527446.1_Missense_Mutation_p.R173C|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron	p.R173C	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN			5	579	+			173					B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	c.517C>T	CCDS8236.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.576022	0.45902	.	.	ENSG00000149273	ENST00000531188;ENST00000422465;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851	.	.	.	5.64	4.73	0.59995	Ribosomal protein S3, conserved site (1);Ribosomal protein S3, C-terminal (3);	0.093314	0.64402	N	0.000001	T	0.69922	0.3165	M	0.87547	2.89	0.80722	D	1	B	0.14012	0.009	B	0.19148	0.024	T	0.71269	-0.4643	9	0.59425	D	0.04	-0.0581	11.6226	0.51126	0.0:0.9145:0.0:0.0855	.	173	P23396	RS3_HUMAN	C	173;47;189;173;161;173	.	ENSP00000278572:R189C	R	+	1	0	RPS3	74792878	1.000000	0.71417	0.995000	0.50966	0.302000	0.27658	6.079000	0.71291	2.677000	0.91161	0.580000	0.79431	CGC		0.507	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		17	14	0	0	0	1	0	17	14				
TAF3	83860	broad.mit.edu	37	10	8005992	8005992	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8005992G>T	ENST00000344293.5	+	3	725	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	173					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTAATGATGAGAATTTCCTGG	0.493																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(517-519)gaG>gaT		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							60.0	59.0	59.0					10																	8005992		1882	4121	6003	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8005992G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.519G>T	10.37:g.8005992G>T	ENSP00000340271:p.Glu173Asp						p.E173D	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	725	+			173					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.519G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935353	0.52866	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.20738	2.05	5.57	1.67	0.24075	.	0.000000	0.64402	D	0.000002	T	0.41581	0.1165	M	0.77616	2.38	0.58432	D	0.999995	D	0.76494	0.999	D	0.78314	0.991	T	0.14254	-1.0479	10	0.42905	T	0.14	-38.046	9.0983	0.36653	0.4796:0.0:0.5204:0.0	.	173	Q5VWG9	TAF3_HUMAN	D	173	ENSP00000340271:E173D	ENSP00000340271:E173D	E	+	3	2	TAF3	8045998	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.789000	0.38724	0.322000	0.23283	0.655000	0.94253	GAG		0.493	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		5	49	1	0	0.184627	1	0.186383	5	49				
EPB42	2038	broad.mit.edu	37	15	43512939	43512939	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43512939C>A	ENST00000441366.2	-	1	236				EPB42_ENST00000540029.1_Intron|EPB42_ENST00000300215.3_Nonsense_Mutation_p.G29*	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2						cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.G29R(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATCCCACTTCCTTTAATGAAA	0.602																																						ENST00000300215.3																			1	Substitution - Missense(1)	p.G29R(1)	skin(1)	endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(85-87)Gga>Tga		erythrocyte membrane protein band 4.2							141.0	139.0	140.0					15																	43512939		2203	4299	6502	SO:0001627	intron_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43512939C>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.10+74G>T	15.37:g.43512939C>A						EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Intron	p.G29*			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	1	542	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	0					Q4KKX0|Q4VB97	Nonsense_Mutation	SNP	ENST00000441366.2	37	c.85G>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	37	6.395526	0.97533	.	.	ENSG00000166947	ENST00000300215	.	.	.	4.02	0.397	0.16314	.	4.964790	0.00397	N	0.000054	.	.	.	.	.	.	0.19575	N	0.999969	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	1.0488	6.6404	0.22906	0.0:0.6867:0.0:0.3133	.	.	.	.	X	29	.	ENSP00000300215:G29X	G	-	1	0	EPB42	41300231	0.292000	0.24362	0.070000	0.20053	0.282000	0.26991	0.480000	0.22244	0.237000	0.21200	0.655000	0.94253	GGA		0.602	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		60	85	1	0	2.03967e-17	1	2.64614e-17	60	85				
GABRR2	2570	broad.mit.edu	37	6	89977468	89977468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89977468C>T	ENST00000402938.3	-	6	799	c.666G>A	c.(664-666)aaG>aaA	p.K222K	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Silent_p.K247K	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	222					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ACAAGGAGATCTTCTCATCTG	0.403																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(664-666)aaG>aaA		gamma-aminobutyric acid (GABA) A receptor, rho 2							141.0	144.0	143.0					6																	89977468		2203	4300	6503	SO:0001819	synonymous_variant	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89977468C>T		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.666G>A	6.37:g.89977468C>T						GABRR2_ENST00000602399.1_Silent_p.K247K	p.K222K			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	6	799	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	247					A2BDE4|Q9H153	Silent	SNP	ENST00000402938.3	37	c.666G>A	CCDS5020.3																																																																																				0.403	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			27	68	0	0	0	1	0	27	68				
ZSWIM4	65249	broad.mit.edu	37	19	13941548	13941548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941548G>A	ENST00000254323.2	+	13	2843	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R719H	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	885							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATTCTGCGCCGCTGGACTCTC	0.697																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2653-2655)cGc>cAc		zinc finger, SWIM-type containing 4							64.0	66.0	65.0					19																	13941548		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941548G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2654G>A	19.37:g.13941548G>A	ENSP00000254323:p.Arg885His					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R719H	p.R885H	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2843	+			885						Missense_Mutation	SNP	ENST00000254323.2	37	c.2654G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032369	0.75504	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.51817	0.71;0.69	4.15	3.1	0.35709	.	0.110120	0.39544	N	0.001338	T	0.62768	0.2455	M	0.72353	2.195	0.47374	D	0.999403	D;D	0.89917	1.0;1.0	D;D	0.79108	0.969;0.992	T	0.65245	-0.6215	10	0.66056	D	0.02	-27.6308	8.8949	0.35458	0.1132:0.0:0.8868:0.0	.	719;885	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	H	885;719	ENSP00000254323:R885H;ENSP00000405278:R719H	ENSP00000254323:R885H	R	+	2	0	ZSWIM4	13802548	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.073000	0.76784	1.853000	0.53794	0.491000	0.48974	CGC		0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		6	73	0	0	0	1	0	6	73				
FAM171A1	221061	broad.mit.edu	37	10	15256192	15256192	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256192G>T	ENST00000378116.4	-	8	1401	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	465			P -> S (in dbSNP:rs3814165). {ECO:0000269|PubMed:15489334}.			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGCCTTTAAGGGAAAAACCT	0.463																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1393-1395)ccC>ccA		family with sequence similarity 171, member A1							66.0	63.0	64.0					10																	15256192		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256192G>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1395C>A	10.37:g.15256192G>T						FAM171A1_ENST00000477161.1_5'UTR	p.P465P	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1401	-			465		P -> S (in dbSNP:rs3814165).			D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1395C>A	CCDS31154.1																																																																																				0.463	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		5	56	1	0	0.0215528	1	0.0221649	5	56				
KRT28	162605	broad.mit.edu	37	17	38953513	38953513	+	Silent	SNP	G	G	A	rs144466094	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38953513G>A	ENST00000306658.7	-	4	776	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCCCAGCCGCGCACTGCAGAG	0.557																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(709-711)tgC>tgT		keratin 28		G		0,4406		0,0,2203	51.0	54.0	53.0		711	4.0	1.0	17	dbSNP_134	53	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	KRT28	NM_181535.3		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		237/465	38953513	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953513G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.711C>T	17.37:g.38953513G>A							p.C237C	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			4	776	-		Breast(137;0.000301)	237			Linker 12.|Rod.			Silent	SNP	ENST00000306658.7	37	c.711C>T	CCDS11376.1																																																																																				0.557	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		15	29	0	0	0	1	0	15	29				
MYEF2	50804	broad.mit.edu	37	15	48435115	48435115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48435115C>T	ENST00000324324.7	-	17	2072	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	MYEF2_ENST00000267836.6_Missense_Mutation_p.R574H	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	598	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTATGCATTACGATCCAAGCG	0.363																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1792-1794)cGt>cAt		myelin expression factor 2							156.0	140.0	145.0					15																	48435115		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48435115C>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1793G>A	15.37:g.48435115C>T	ENSP00000316950:p.Arg598His					MYEF2_ENST00000267836.6_Missense_Mutation_p.R574H	p.R598H	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	17	2072	-		all_lung(180;0.00217)	598			RRM 3.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1793G>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215490	0.79352	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.75704	-0.96;-0.96	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.976	D	0.83833	0.0253	10	0.87932	D	0	-4.8143	20.1115	0.97913	0.0:1.0:0.0:0.0	.	574;598	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	H	598;574;186	ENSP00000316950:R598H;ENSP00000267836:R574H	ENSP00000267836:R574H	R	-	2	0	MYEF2	46222407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.919000	0.63383	2.814000	0.96858	0.655000	0.94253	CGT		0.363	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		13	95	0	0	0	1	0	13	95				
TTN	7273	broad.mit.edu	37	2	179455593	179455593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179455593C>T	ENST00000591111.1	-	254	56160	c.55936G>A	c.(55936-55938)Gca>Aca	p.A18646T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11222T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11347T|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17719T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A20287T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11414T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18646	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTTGCTGCATTTTCAGTA	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60859-60861)Gca>Aca		titin							90.0	88.0	89.0					2																	179455593		1895	4118	6013	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455593C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55936G>A	2.37:g.179455593C>T	ENSP00000465570:p.Ala18646Thr					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11222T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17719T|TTN_ENST00000359218.5_Missense_Mutation_p.A11347T|TTN_ENST00000342175.6_Missense_Mutation_p.A11414T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18646T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.A20287T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61083	-			18646			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60859G>A		.	.	.	.	.	.	.	.	.	.	C	12.45	1.942506	0.34283	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45438	0.1342	N	0.05259	-0.085	0.44388	D	0.997296	P;P;P;P	0.46859	0.805;0.805;0.805;0.885	P;P;P;P	0.48368	0.575;0.575;0.575;0.575	T	0.55159	-0.8184	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11222;11347;11414;18646	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17719;11222;11414;11347;11220	ENSP00000343764:A17719T;ENSP00000434586:A11222T;ENSP00000340554:A11414T;ENSP00000352154:A11347T	ENSP00000340554:A11414T	A	-	1	0	TTN	179163839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.990000	0.56965	2.906000	0.99361	0.655000	0.94253	GCA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	47	0	0	0	1	0	40	47				
LAMB4	22798	broad.mit.edu	37	7	107696370	107696370	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107696370G>A	ENST00000388781.3	-	25	3545	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S	LAMB4_ENST00000205386.4_Silent_p.S1154S|LAMB4_ENST00000388780.3_Silent_p.S1154S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1154	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCTCTGGCCGCTGACACCCT	0.527																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3460-3462)agC>agT		laminin, beta 4							55.0	56.0	55.0					7																	107696370		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107696370G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3462C>T	7.37:g.107696370G>A						LAMB4_ENST00000388780.3_Silent_p.S1154S|LAMB4_ENST00000205386.4_Silent_p.S1154S	p.S1154S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			25	3545	-			1154			Laminin EGF-like 13.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.3462C>T	CCDS34732.1																																																																																				0.527	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		43	25	0	0	0	1	0	43	25				
TTN	7273	broad.mit.edu	37	2	179610944	179610944	+	Intron	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179610944A>C	ENST00000591111.1	-	46	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S5395A			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCATCTGAATTTTCTGGA	0.333																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(16183-16185)Tca>Gca		titin							56.0	59.0	58.0					2																	179610944		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610944A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4296T>G	2.37:g.179610944A>C						TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	p.S5395A	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16405	-			8903			Ig-like 34.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16183T>G		.	.	.	.	.	.	.	.	.	.	A	8.124	0.781676	0.16120	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.77098	-1.07	5.88	3.53	0.40419	.	.	.	.	.	T	0.70020	0.3176	L	0.47016	1.485	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.60786	-0.7194	9	0.24483	T	0.36	.	12.8628	0.57924	0.7134:0.2866:0.0:0.0	.	5395	Q8WZ42-6	.	A	5395;676	ENSP00000354117:S5395A	ENSP00000304714:S676A	S	-	1	0	TTN	179319189	0.880000	0.30214	0.726000	0.30738	0.988000	0.76386	1.719000	0.38011	0.490000	0.27771	0.533000	0.62120	TCA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	61	0	0	0	1	0	4	61				
ATP10B	23120	broad.mit.edu	37	5	160076222	160076222	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160076222C>T	ENST00000327245.5	-	8	1563	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTCTCACACACGATGGTAT	0.403																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(715-717)gtG>gtA		ATPase, class V, type 10B							185.0	179.0	181.0					5																	160076222		1875	4104	5979	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160076222C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.717G>A	5.37:g.160076222C>T							p.V239V	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1563	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	239					Q9H725	Silent	SNP	ENST00000327245.5	37	c.717G>A	CCDS43394.1																																																																																				0.403	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		8	66	0	0	0	1	0	8	66				
TLL1	7092	broad.mit.edu	37	4	166963178	166963178	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166963178G>T	ENST00000061240.2	+	11	1908		c.e11-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTTCTTTTAGGTAGATTCTG	0.353																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.e11-1		tolloid-like 1							94.0	97.0	96.0					4																	166963178		2203	4300	6503	SO:0001630	splice_region_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166963178G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1262-1G>T	4.37:g.166963178G>T						TLL1_ENST00000507499.1_Splice_Site		NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	11	1908	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)						B2RMU2|Q96AN3|Q9NQS4	Splice_Site	SNP	ENST00000061240.2	37		CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810632	0.90707	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.774	0.96385	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLL1	167182628	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.785000	0.99042	2.679000	0.91253	0.591000	0.81541	.		0.353	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		Intron	5	118	1	0	1	1	1	5	118				
UBE3A	7337	broad.mit.edu	37	15	25616697	25616697	+	Silent	SNP	G	G	T	rs112484472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25616697G>T	ENST00000397954.2	-	4	632	c.633C>A	c.(631-633)tcC>tcA	p.S211S	UBE3A_ENST00000566215.1_Silent_p.S188S|UBE3A_ENST00000428984.2_Silent_p.S188S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Silent_p.S188S|UBE3A_ENST00000232165.3_Silent_p.S208S			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	211					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTATCCTTGAGGAAGATGCTT	0.413																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(622-624)tcC>tcA		ubiquitin protein ligase E3A							212.0	203.0	206.0					15																	25616697		2203	4300	6503	SO:0001819	synonymous_variant	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616697G>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.633C>A	15.37:g.25616697G>T						UBE3A_ENST00000397954.2_Silent_p.S211S|UBE3A_ENST00000438097.1_Silent_p.S188S|UBE3A_ENST00000566215.1_Silent_p.S188S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Silent_p.S188S	p.S208S	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1280	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	211					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Silent	SNP	ENST00000397954.2	37	c.624C>A	CCDS45192.1																																																																																				0.413	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		23	212	1	0	6.44725e-10	1	7.89499e-10	23	212				
NVL	4931	broad.mit.edu	37	1	224477369	224477369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224477369G>A	ENST00000281701.6	-	13	1651	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	NVL_ENST00000391875.2_Silent_p.H358H|NVL_ENST00000469075.1_Silent_p.H373H|NVL_ENST00000340871.4_Silent_p.H275H|NVL_ENST00000361463.3_Silent_p.H358H|NVL_ENST00000482491.1_Silent_p.H188H	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	464						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGGAGTTAGGTGTGCTAAGT	0.433																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(1390-1392)caC>caT		nuclear VCP-like							66.0	60.0	62.0					1																	224477369		2203	4300	6503	SO:0001819	synonymous_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224477369G>A	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1392C>T	1.37:g.224477369G>A						NVL_ENST00000469075.1_Silent_p.H373H|NVL_ENST00000391875.2_Silent_p.H358H|NVL_ENST00000482491.1_Silent_p.H188H|NVL_ENST00000361463.3_Silent_p.H358H|NVL_ENST00000340871.4_Silent_p.H275H	p.H464H	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	13	1651	-			464					B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	c.1392C>T	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248601	0.22880	.	.	ENSG00000143748	ENST00000469968	.	.	.	5.91	4.04	0.47022	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44726	-0.9309	4	.	.	.	-13.7123	3.8961	0.09139	0.3104:0.1742:0.5154:0.0	.	.	.	.	S	347	.	.	P	-	1	0	NVL	222543992	0.979000	0.34478	0.997000	0.53966	0.994000	0.84299	0.192000	0.17096	1.500000	0.48636	0.655000	0.94253	CCT		0.433	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		18	34	0	0	0	1	0	18	34				
LANCL2	55915	broad.mit.edu	37	7	55466181	55466181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55466181C>A	ENST00000254770.2	+	3	966	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	130					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTCCGATCCCTGGATTACGT	0.502																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(388-390)Ctg>Atg		LanC lantibiotic synthetase component C-like 2 (bacterial)							93.0	92.0	93.0					7																	55466181		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55466181C>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.388C>A	7.37:g.55466181C>A	ENSP00000254770:p.Leu130Met					LANCL2_ENST00000486376.1_3'UTR	p.L130M	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		3	966	+	Breast(14;0.0379)		130					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.388C>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126685	0.56721	.	.	ENSG00000132434	ENST00000254770	T	0.45668	0.89	5.54	3.75	0.43078	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.83012	2.62	0.54753	D	0.999986	P	0.47253	0.892	P	0.52031	0.688	T	0.56050	-0.8043	10	0.33940	T	0.23	.	11.2189	0.48842	0.0:0.85:0.0:0.15	.	130	Q9NS86	LANC2_HUMAN	M	130	ENSP00000254770:L130M	ENSP00000254770:L130M	L	+	1	2	LANCL2	55433675	0.839000	0.29477	0.969000	0.41365	0.742000	0.42306	1.462000	0.35266	0.827000	0.34685	-0.254000	0.11334	CTG		0.502	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		6	64	1	0	8.12818e-05	1	8.99451e-05	6	64				
RIPPLY3	53820	broad.mit.edu	37	21	38390258	38390258	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38390258G>A	ENST00000329553.2	+	4	534	c.324G>A	c.(322-324)acG>acA	p.T108T	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	108	Ripply homology domain.				heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TGCAAGCCACGATTGACTTCT	0.522																																						ENST00000329553.2																			0											c.(322-324)acG>acA		ripply transcriptional repressor 3							46.0	43.0	44.0					21																	38390258		2203	4300	6503	SO:0001819	synonymous_variant	53820							g.chr21:38390258G>A	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.324G>A	21.37:g.38390258G>A						RIPPLY3_ENST00000485272.1_3'UTR	p.T108T	NM_018962.2	NP_061835.1					4	534	+									Silent	SNP	ENST00000329553.2	37	c.324G>A	CCDS13648.1																																																																																				0.522	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			14	18	0	0	0	1	0	14	18				
BPTF	2186	broad.mit.edu	37	17	65955939	65955939	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65955939A>G	ENST00000321892.4	+	26	8648	c.8587A>G	c.(8587-8589)Aag>Gag	p.K2863E	BPTF_ENST00000335221.5_Missense_Mutation_p.K2720E|BPTF_ENST00000424123.3_Missense_Mutation_p.K2581E|BPTF_ENST00000306378.6_Missense_Mutation_p.K2737E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2863					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGGAAACTAAGAAGGACAC	0.388																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(8587-8589)Aag>Gag		bromodomain PHD finger transcription factor							71.0	72.0	71.0					17																	65955939		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65955939A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8587A>G	17.37:g.65955939A>G	ENSP00000315454:p.Lys2863Glu					BPTF_ENST00000335221.5_Missense_Mutation_p.K2720E|BPTF_ENST00000306378.6_Missense_Mutation_p.K2737E|BPTF_ENST00000424123.3_Missense_Mutation_p.K2581E	p.K2863E			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		26	8648	+	all_cancers(12;6e-11)		2863					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.8587A>G		.	.	.	.	.	.	.	.	.	.	A	19.16	3.774417	0.70107	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123;ENST00000342579	T;T;T	0.61742	0.08;0.08;0.08	5.22	5.22	0.72569	.	.	.	.	.	T	0.71796	0.3382	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;1.0	D;D;D;D	0.85130	0.98;0.985;0.997;0.997	T	0.74578	-0.3619	9	0.66056	D	0.02	-11.6357	15.1249	0.72475	1.0:0.0:0.0:0.0	.	10;541;2737;2720	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	E	2737;2720;2863;391;10	ENSP00000307208:K2737E;ENSP00000334351:K2720E;ENSP00000315454:K2863E	ENSP00000307208:K2737E	K	+	1	0	BPTF	63386401	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.088000	0.76901	1.971000	0.57363	0.402000	0.26972	AAG		0.388	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		17	58	0	0	0	1	0	17	58				
DMTF1	9988	broad.mit.edu	37	7	86823402	86823402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86823402G>T	ENST00000394703.5	+	18	2575	c.2012G>T	c.(2011-2013)aGt>aTt	p.S671I	DMTF1_ENST00000414194.2_Missense_Mutation_p.S405I|TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000413276.2_Missense_Mutation_p.S601I|DMTF1_ENST00000331242.7_Missense_Mutation_p.S671I|DMTF1_ENST00000432937.2_Missense_Mutation_p.S583I	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	671	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GATTTAGCCAGTGCTTATGTT	0.398																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(1213-1215)aGt>aTt		cyclin D binding myb-like transcription factor 1							83.0	84.0	84.0					7																	86823402		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86823402G>T	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.2012G>T	7.37:g.86823402G>T	ENSP00000378193:p.Ser671Ile					DMTF1_ENST00000413276.2_Missense_Mutation_p.S601I|DMTF1_ENST00000331242.7_Missense_Mutation_p.S671I|DMTF1_ENST00000432937.2_Missense_Mutation_p.S583I|DMTF1_ENST00000394703.5_Missense_Mutation_p.S671I	p.S405I			Q9Y222	DMTF1_HUMAN			16	3006	+	Esophageal squamous(14;0.0058)		671			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.1214G>T	CCDS5601.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.07|14.07	2.424455|2.424455	0.43020|0.43020	.|.	.|.	ENSG00000135164|ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194|ENST00000454008	T;T;T;T;T|.	0.52526|.	0.72;0.66;0.73;0.72;0.73|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.662750|.	0.16323|.	N|.	0.219452|.	T|T	0.35158|0.35158	0.0922|0.0922	N|N	0.24115|0.24115	0.695|0.695	0.31443|0.31443	N|N	0.671663|0.671663	B|.	0.22480|.	0.07|.	B|.	0.25140|.	0.058|.	T|T	0.37314|0.37314	-0.9711|-0.9711	10|5	0.32370|.	T|.	0.25|.	0.2034|0.2034	9.0934|9.0934	0.36625|0.36625	0.2625:0.0:0.7375:0.0|0.2625:0.0:0.7375:0.0	.|.	671|.	Q9Y222|.	DMTF1_HUMAN|.	I|L	671;601;583;671;405|139	ENSP00000332171:S671I;ENSP00000402627:S601I;ENSP00000412532:S583I;ENSP00000378193:S671I;ENSP00000415910:S405I|.	ENSP00000332171:S671I|.	S|V	+|+	2|1	0|0	DMTF1|DMTF1	86661338|86661338	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.973000|0.973000	0.67179|0.67179	1.950000|1.950000	0.40323|0.40323	0.238000|0.238000	0.21222|0.21222	0.563000|0.563000	0.77884|0.77884	AGT|GTG		0.398	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		27	108	1	0	7.38237e-10	1	9.02878e-10	27	108				
AIM1	202	broad.mit.edu	37	6	107000063	107000063	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107000063C>A	ENST00000369066.3	+	13	4707	c.4220C>A	c.(4219-4221)tCt>tAt	p.S1407Y	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.S226Y	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTAGGATTCTTTCACTGGC	0.279																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4219-4221)tCt>tAt		absent in melanoma 1							19.0	21.0	20.0					6																	107000063		2196	4275	6471	SO:0001583	missense	202						sugar binding	g.chr6:107000063C>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4220C>A	6.37:g.107000063C>A	ENSP00000358062:p.Ser1407Tyr					AIM1_ENST00000535438.1_Missense_Mutation_p.S226Y|AIM1_ENST00000487681.1_3'UTR	p.S1407Y	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	13	4707	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1407					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4220C>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572463	0.45798	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.74209	-0.68;-0.82;-0.75	5.9	5.02	0.67125	.	0.641780	0.17365	N	0.176881	T	0.50257	0.1605	L	0.36672	1.1	0.28733	N	0.902395	B;P	0.47841	0.112;0.901	B;B	0.39738	0.093;0.308	T	0.54675	-0.8258	10	0.66056	D	0.02	.	9.9801	0.41809	0.0:0.9107:0.0:0.0893	.	226;1407	B4DU04;Q9Y4K1	.;AIM1_HUMAN	Y	1407;226;226	ENSP00000358062:S1407Y;ENSP00000391419:S226Y;ENSP00000439183:S226Y	ENSP00000358062:S1407Y	S	+	2	0	AIM1	107106756	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.746000	0.26275	2.793000	0.96121	0.563000	0.77884	TCT		0.279	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			3	19	1	0	6.4e-05	1	7.11719e-05	3	19				
MTMR12	54545	broad.mit.edu	37	5	32268851	32268851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32268851C>T	ENST00000382142.3	-	6	709	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	MTMR12_ENST00000280285.5_Missense_Mutation_p.R180Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.R180Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	180						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.R180Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGAAATAATCGTTTAAGCAG	0.378																																						ENST00000382142.3																			1	Substitution - Missense(1)	p.R180Q(1)	large_intestine(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(538-540)cGa>cAa		myotubularin related protein 12							128.0	120.0	123.0					5																	32268851		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32268851C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.539G>A	5.37:g.32268851C>T	ENSP00000371577:p.Arg180Gln					MTMR12_ENST00000280285.5_Missense_Mutation_p.R180Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.R180Q	p.R180Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			6	709	-			180					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.539G>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412317	0.96072	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.81659	-1.52;-1.52;-1.52	5.61	5.61	0.85477	.	0.069179	0.64402	D	0.000018	D	0.88032	0.6328	L	0.57536	1.79	0.41300	D	0.987032	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.963;0.92	D	0.84977	0.0886	10	0.27082	T	0.32	.	19.6476	0.95789	0.0:1.0:0.0:0.0	.	180;180;180	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	Q	180	ENSP00000280285:R180Q;ENSP00000371577:R180Q;ENSP00000264934:R180Q	ENSP00000264934:R180Q	R	-	2	0	MTMR12	32304608	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.062000	0.64326	2.653000	0.90120	0.655000	0.94253	CGA		0.378	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		31	61	0	0	0	1	0	31	61				
ST14	6768	broad.mit.edu	37	11	130060400	130060400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130060400C>T	ENST00000278742.5	+	7	1104	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	229	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ATGCGCTTCACCACGCCCGGC	0.701																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(685-687)aCc>aTc		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						29.0	31.0	30.0					11																	130060400		2201	4295	6496	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130060400C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.686C>T	11.37:g.130060400C>T	ENSP00000278742:p.Thr229Ile						p.T229I	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	1104	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	229			CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.686C>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879862	0.33162	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.19394	2.15	5.45	4.53	0.55603	CUB (5);	0.191342	0.25529	N	0.030046	T	0.33498	0.0865	M	0.71920	2.185	0.31377	N	0.679479	P;B	0.50369	0.934;0.25	P;B	0.49999	0.628;0.228	T	0.45977	-0.9224	10	0.59425	D	0.04	.	11.8588	0.52454	0.1374:0.7301:0.1325:0.0	.	39;229	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	I	229;131	ENSP00000278742:T229I	ENSP00000278742:T229I	T	+	2	0	ST14	129565610	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	3.427000	0.52785	1.293000	0.44690	0.650000	0.86243	ACC		0.701	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			7	23	0	0	0	1	0	7	23				
FAM161B	145483	broad.mit.edu	37	14	74413270	74413270	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74413270T>C	ENST00000534936.1	-	2	198	c.93A>G	c.(91-93)ggA>ggG	p.G31G	FAM161B_ENST00000286544.3_Silent_p.G94G			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	31										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ACAGCTCCTCTCCTGCCTCTG	0.473																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(280-282)ggA>ggG		family with sequence similarity 161, member B							82.0	85.0	84.0					14																	74413270		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74413270T>C	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.93A>G	14.37:g.74413270T>C						FAM161B_ENST00000534936.1_Silent_p.G31G	p.G94G	NM_152445.2	NP_689658.2					2	480	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.282A>G																																																																																					0.473	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		22	106	0	0	0	1	0	22	106				
NFKB2	4791	broad.mit.edu	37	10	104157744	104157744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104157744C>T	ENST00000369966.3	+	9	918	c.668C>T	c.(667-669)cCg>cTg	p.P223L	NFKB2_ENST00000189444.6_Missense_Mutation_p.P223L|NFKB2_ENST00000428099.1_Missense_Mutation_p.P223L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	223	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	ATAGAATCTCCGGGGGCATCA	0.478			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(667-669)cCg>cTg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							119.0	115.0	116.0					10																	104157744		1891	4112	6003	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104157744C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.668C>T	10.37:g.104157744C>T	ENSP00000358983:p.Pro223Leu					NFKB2_ENST00000428099.1_Missense_Mutation_p.P223L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P223L	p.P223L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	9	918	+		Colorectal(252;0.00957)	223			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.668C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448180	0.84101	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.45668	0.9;0.89;0.9	5.21	5.21	0.72293	Rel homology (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;1.0	T	0.70923	-0.4740	10	0.87932	D	0	.	18.7917	0.91976	0.0:1.0:0.0:0.0	.	223;223;223	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	L	223	ENSP00000410256:P223L;ENSP00000358983:P223L;ENSP00000189444:P223L	ENSP00000189444:P223L	P	+	2	0	NFKB2	104147734	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.794000	0.85869	2.433000	0.82419	0.561000	0.74099	CCG		0.478	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			37	66	0	0	0	1	0	37	66				
CHD7	55636	broad.mit.edu	37	8	61750301	61750301	+	Silent	SNP	T	T	C	rs376148485		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61750301T>C	ENST00000423902.2	+	18	4739	c.4260T>C	c.(4258-4260)taT>taC	p.Y1420Y	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1420	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAATTCCTATGAAAGGGAAA	0.393																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(4258-4260)taT>taC		chromodomain helicase DNA binding protein 7		T		0,3662		0,0,1831	47.0	45.0	45.0		4260	0.8	1.0	8		45	1,8161		0,1,4080	no	coding-synonymous	CHD7	NM_017780.3		0,1,5911	CC,CT,TT		0.0123,0.0,0.0085		1420/2998	61750301	1,11823	1831	4081	5912	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61750301T>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4260T>C	8.37:g.61750301T>C						CHD7_ENST00000524602.1_Intron	p.Y1420Y	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		18	4739	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1420			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.4260T>C	CCDS47865.1																																																																																				0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	7	0	0	0	1	0	6	7				
GLIPR1	11010	broad.mit.edu	37	12	75875739	75875739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75875739C>T	ENST00000266659.3	+	2	501	c.300C>T	c.(298-300)atC>atT	p.I100I	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	100	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GAGAGAACATCTGGACTGGGT	0.473																																						ENST00000266659.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(298-300)atC>atT		GLI pathogenesis-related 1							124.0	108.0	114.0					12																	75875739		2203	4300	6503	SO:0001819	synonymous_variant	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75875739C>T	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.300C>T	12.37:g.75875739C>T							p.I100I	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN			2	501	+			100					A7YET6|F8VUC2|Q15409|Q969K2	Silent	SNP	ENST00000266659.3	37	c.300C>T	CCDS9011.1																																																																																				0.473	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		35	78	0	0	0	1	0	35	78				
CABP1	9478	broad.mit.edu	37	12	121098961	121098961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121098961G>T	ENST00000316803.3	+	5	1161	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	CABP1_ENST00000288616.3_Missense_Mutation_p.D200Y|CABP1_ENST00000453000.1_Missense_Mutation_p.D279Y|CABP1_ENST00000351200.2_Missense_Mutation_p.D140Y	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	343	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGACACCGAGACATAGAGGA	0.527																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(835-837)Gac>Tac		calcium binding protein 1							118.0	111.0	113.0					12																	121098961		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098961G>T	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.1027G>T	12.37:g.121098961G>T	ENSP00000317310:p.Asp343Tyr					CABP1_ENST00000351200.2_Missense_Mutation_p.D140Y|CABP1_ENST00000316803.3_Missense_Mutation_p.D343Y|CABP1_ENST00000288616.3_Missense_Mutation_p.D200Y	p.D279Y			Q9NZU7	CABP1_HUMAN			5	1347	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		343			EF-hand 2.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.835G>T	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180825	0.78677	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.13	5.13	0.70059	EF-hand-like domain (1);	0.049166	0.85682	D	0.000000	T	0.80325	0.4602	L	0.45228	1.405	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;0.997;0.999	D;D;D;D	0.76575	0.988;0.91;0.937;0.978	T	0.82394	-0.0479	10	0.87932	D	0	-28.6697	18.5973	0.91234	0.0:0.0:1.0:0.0	.	279;140;200;343	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	Y	343;200;140;279	ENSP00000317310:D343Y;ENSP00000288616:D200Y;ENSP00000288615:D140Y;ENSP00000398959:D279Y	ENSP00000288616:D200Y	D	+	1	0	CABP1	119583344	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.611000	0.82962	2.389000	0.81357	0.655000	0.94253	GAC		0.527	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		5	75	1	0	0.00116845	1	0.00124821	5	75				
CDHR2	54825	broad.mit.edu	37	5	176011940	176011940	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011940C>A	ENST00000510636.1	+	19	2932	c.2658C>A	c.(2656-2658)gcC>gcA	p.A886A	CDHR2_ENST00000261944.5_Silent_p.A886A|CDHR2_ENST00000506348.1_Silent_p.A886A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	886	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTACGAGGCCTGTGACCTGG	0.627																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2656-2658)gcC>gcA		cadherin-related family member 2							45.0	36.0	39.0					5																	176011940		2197	4293	6490	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011940C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2658C>A	5.37:g.176011940C>A						CDHR2_ENST00000506348.1_Silent_p.A886A|CDHR2_ENST00000261944.5_Silent_p.A886A	p.A886A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2932	+			886			Cadherin 8.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2658C>A	CCDS34297.1																																																																																				0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		5	4	1	0	0.0215528	1	0.0221649	5	4				
CC2D2B	387707	broad.mit.edu	37	10	97769581	97769581	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97769581G>T	ENST00000344386.3	+	3	185		c.e3-1		CC2D2B_ENST00000410012.2_Splice_Site|RP11-690P14.4_ENST00000475252.2_Splice_Site|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_Splice_Site	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		tattttCATAGGATCACTGTC	0.308																																						ENST00000371198.2																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.e12-1		coiled-coil and C2 domain containing 2B							97.0	88.0	91.0					10																	97769581		1818	4063	5881	SO:0001630	splice_region_variant	387707							g.chr10:97769581G>T	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.22-1G>T	10.37:g.97769581G>T						CC2D2B_ENST00000410012.2_Splice_Site|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_Splice_Site|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000344386.3_Splice_Site				Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	12	1334	+		Colorectal(252;0.158)						A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Splice_Site	SNP	ENST00000344386.3	37		CCDS41555.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107277	0.37145	.	.	ENSG00000188649	ENST00000371198;ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5712	0.84613	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CC2D2B	97759571	1.000000	0.71417	0.976000	0.42696	0.357000	0.29423	5.857000	0.69525	2.656000	0.90262	0.644000	0.83932	.		0.308	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732	Intron	12	48	1	0	7.03913e-09	1	8.47891e-09	12	48				
TUBGCP2	10844	broad.mit.edu	37	10	135094850	135094850	+	Missense_Mutation	SNP	G	G	T	rs575858723		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135094850G>T	ENST00000252936.3	-	16	2539	c.2500C>A	c.(2500-2502)Ctg>Atg	p.L834M	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.L427M|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.L834M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.L704M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.L862M			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	834					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGGAGGTCCAGCAGGTGGGCT	0.617																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2500-2502)Ctg>Atg		tubulin, gamma complex associated protein 2							112.0	94.0	100.0					10																	135094850		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135094850G>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2500C>A	10.37:g.135094850G>T	ENSP00000252936:p.Leu834Met					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.L834M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.L704M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.L427M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.L862M	p.L834M	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	17	2856	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	834					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.2500C>A	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083696	0.36758	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32515	2.43;2.18;2.43;1.45;2.46	4.49	4.49	0.54785	.	0.160717	0.42682	D	0.000667	T	0.23410	0.0566	L	0.34521	1.04	0.54753	D	0.999982	B;B;B	0.18310	0.027;0.016;0.016	B;B;B	0.16289	0.015;0.007;0.007	T	0.03922	-1.0992	10	0.45353	T	0.12	-17.2623	11.5188	0.50539	0.0:0.0:0.8206:0.1794	.	862;862;834	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	M	834;704;834;427;862	ENSP00000252936:L834M;ENSP00000395666:L704M;ENSP00000357551:L834M;ENSP00000357550:L427M;ENSP00000446093:L862M	ENSP00000252936:L834M	L	-	1	2	TUBGCP2	134944840	1.000000	0.71417	0.977000	0.42913	0.927000	0.56198	3.511000	0.53400	2.518000	0.84900	0.561000	0.74099	CTG		0.617	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			4	63	1	0	1.024e-07	1	1.214e-07	4	63				
AK9	221264	broad.mit.edu	37	6	109814755	109814755	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109814755G>A	ENST00000424296.2	-	41	5629	c.5553C>T	c.(5551-5553)tcC>tcT	p.S1851S	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1851					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTGTGTATTCGGAACCTTTGG	0.368																																						ENST00000424296.2																			0											c.(5551-5553)tcC>tcT		adenylate kinase 9							79.0	79.0	79.0					6																	109814755		2202	4300	6502	SO:0001819	synonymous_variant	221264							g.chr6:109814755G>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5553C>T	6.37:g.109814755G>A						RP5-919F19.5_ENST00000423747.1_RNA	p.S1851S	NM_001145128.2	NP_001138600.2					41	5629	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5553C>T	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.300|6.300	0.423410|0.423410	0.11928|0.11928	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000490722	.|.	.|.	.|.	5.37|5.37	0.139|0.139	0.14798|0.14798	.|.	.|.	.|.	.|.	.|.	T|.	0.23171|.	0.0560|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22103|.	-1.0226|.	4|.	.|.	.|.	.|.	.|.	0.8966|0.8966	0.01265|0.01265	0.4622:0.1143:0.2021:0.2215|0.4622:0.1143:0.2021:0.2215	.|.	.|.	.|.	.|.	L|X	689|252	.|.	.|.	P|R	-|-	2|1	0|2	AKD1|AKD1	109921448|109921448	0.947000|0.947000	0.32204|0.32204	0.997000|0.997000	0.53966|0.53966	0.862000|0.862000	0.49288|0.49288	0.001000|0.001000	0.13038|0.13038	0.020000|0.020000	0.15106|0.15106	-0.312000|-0.312000	0.09012|0.09012	CCG|CGA		0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		26	41	0	0	0	1	0	26	41				
NLRP1	22861	broad.mit.edu	37	17	5433810	5433810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5433810C>T	ENST00000572272.1	-	12	3510	c.3511G>A	c.(3511-3513)Gct>Act	p.A1171T	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.A1171T|NLRP1_ENST00000354411.3_Missense_Mutation_p.A1141T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1141T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1171T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1175T			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1171					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTTGGAGAGCCACAAAGTGA	0.542																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3511-3513)Gct>Act		NLR family, pyrin domain containing 1							66.0	59.0	61.0					17																	5433810		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5433810C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3511G>A	17.37:g.5433810C>T	ENSP00000460475:p.Ala1171Thr					NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A1141T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1171T|NLRP1_ENST00000572272.1_Missense_Mutation_p.A1171T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1141T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1175T	p.A1171T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			12	4065	-		Colorectal(1115;3.48e-05)	1171					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.3511G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514725	0.44763	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.26	-5.87	0.02297	.	1.515050	0.04438	N	0.370322	T	0.13841	0.0335	L	0.44542	1.39	0.09310	N	0.999996	B;B;B;B;B;B	0.28900	0.227;0.04;0.04;0.049;0.04;0.049	B;B;B;B;B;B	0.31614	0.133;0.043;0.043;0.072;0.043;0.072	T	0.40021	-0.9585	10	0.37606	T	0.19	.	6.8557	0.24040	0.6142:0.171:0.0:0.2148	.	437;1141;1141;1171;1171;1175	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	T	1175;1175;1171;1141;1171;437	ENSP00000442029:A1175T;ENSP00000262467:A1175T;ENSP00000269280:A1171T;ENSP00000346390:A1141T;ENSP00000324366:A1171T	ENSP00000262467:A1175T	A	-	1	0	NLRP1	5374534	0.000000	0.05858	0.007000	0.13788	0.686000	0.39977	-0.365000	0.07573	-0.515000	0.06479	-0.840000	0.03056	GCT		0.542	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		14	23	0	0	0	1	0	14	23				
SOCS6	9306	broad.mit.edu	37	18	67992736	67992736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992736G>T	ENST00000397942.3	+	2	1148	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.E278*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	278					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGTCGCCCCAGAGATCTTCGT	0.582																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(832-834)Gag>Tag		suppressor of cytokine signaling 6							163.0	145.0	151.0					18																	67992736		2203	4300	6503	SO:0001587	stop_gained	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992736G>T	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.832G>T	18.37:g.67992736G>T	ENSP00000381034:p.Glu278*					SOCS6_ENST00000582322.1_Nonsense_Mutation_p.E278*	p.E278*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1148	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	278					Q8WUM3	Nonsense_Mutation	SNP	ENST00000397942.3	37	c.832G>T	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994169	0.93167	.	.	ENSG00000170677	ENST00000397942	.	.	.	5.12	5.12	0.69794	.	0.751494	0.12003	N	0.508625	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.8917	18.5771	0.91159	0.0:0.0:1.0:0.0	.	.	.	.	X	278	.	ENSP00000381034:E278X	E	+	1	0	SOCS6	66143716	1.000000	0.71417	0.508000	0.27688	0.269000	0.26545	6.517000	0.73759	2.371000	0.80710	0.561000	0.74099	GAG		0.582	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			7	93	1	0	0.0293803	1	0.0301098	7	93				
UGT3A1	133688	broad.mit.edu	37	5	35954517	35954517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954517C>A	ENST00000274278.3	-	7	1716	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	453						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCAGCCGCTGTGCGGGGC	0.612																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1357-1359)caG>caT		UDP glycosyltransferase 3 family, polypeptide A1							48.0	43.0	44.0					5																	35954517		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954517C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1359G>T	5.37:g.35954517C>A	ENSP00000274278:p.Gln453His						p.Q453H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1716	-	all_lung(31;0.000197)		453					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1359G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.505227	0.26949	.	.	ENSG00000145626	ENST00000274278	T	0.59638	0.25	3.36	3.36	0.38483	.	0.114433	0.38663	U	0.001619	T	0.75095	0.3803	M	0.86953	2.85	0.30049	N	0.811948	D	0.76494	0.999	D	0.74674	0.984	T	0.73297	-0.4027	10	0.87932	D	0	.	9.1714	0.37083	0.0:0.8838:0.0:0.1162	.	453	Q6NUS8	UD3A1_HUMAN	H	453	ENSP00000274278:Q453H	ENSP00000274278:Q453H	Q	-	3	2	UGT3A1	35990274	0.545000	0.26449	0.185000	0.23176	0.106000	0.19336	1.534000	0.36051	1.827000	0.53221	0.411000	0.27672	CAG		0.612	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		10	20	1	0	0.000219431	1	0.000240782	10	20				
CEBPE	1053	broad.mit.edu	37	14	23586947	23586947	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23586947C>T	ENST00000206513.5	-	2	1119	c.595G>A	c.(595-597)Gca>Aca	p.A199T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	199					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGTTCACTGCCTTCTTGCCC	0.647																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(595-597)Gca>Aca		CCAAT/enhancer binding protein (C/EBP), epsilon							59.0	62.0	61.0					14																	23586947		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586947C>T		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.595G>A	14.37:g.23586947C>T	ENSP00000206513:p.Ala199Thr						p.A199T	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	1119	-	all_cancers(95;4.6e-05)		199					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.595G>A	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666205	0.29604	.	.	ENSG00000092067	ENST00000206513	T	0.30182	1.54	5.06	5.06	0.68205	.	0.385859	0.29822	N	0.011108	T	0.16896	0.0406	N	0.22421	0.69	0.30053	N	0.811584	B	0.34015	0.435	B	0.24701	0.055	T	0.10154	-1.0642	10	0.16420	T	0.52	-13.9328	11.0337	0.47789	0.3004:0.6996:0.0:0.0	.	199	Q15744	CEBPE_HUMAN	T	199	ENSP00000206513:A199T	ENSP00000206513:A199T	A	-	1	0	CEBPE	22656787	0.002000	0.14202	0.995000	0.50966	0.973000	0.67179	0.013000	0.13310	2.324000	0.78689	0.655000	0.94253	GCA		0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		29	67	0	0	0	1	0	29	67				
SRGAP2	23380	broad.mit.edu	37	1	206634618	206634618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206634618G>A	ENST00000414007.1	+	19	2649	c.2649G>A	c.(2647-2649)cgG>cgA	p.R883R				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1023	Ser-rich.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCGCCTTCCGGCCTGTCAAGT	0.642																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(2647-2649)cgG>cgA		SLIT-ROBO Rho GTPase activating protein 2							63.0	70.0	68.0					1																	206634618		2050	4194	6244	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206634618G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2649G>A	1.37:g.206634618G>A							p.R883R			O75044	FNBP2_HUMAN			19	2649	+	Breast(84;0.137)		1023			Ser-rich.			Silent	SNP	ENST00000414007.1	37	c.2649G>A		.	.	.	.	.	.	.	.	.	.	G	8.075	0.771090	0.16051	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.66	4.72	0.59763	.	.	.	.	.	T	0.51193	0.1660	.	.	.	.	.	.	.	.	.	.	.	.	T	0.61753	-0.6998	3	.	.	.	.	8.5432	0.33406	0.0804:0.0:0.7695:0.1501	.	.	.	.	T	937	.	.	A	+	1	0	SRGAP2	204701241	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.915000	0.48805	1.450000	0.47717	0.655000	0.94253	GCC		0.642	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		28	26	0	0	0	1	0	28	26				
ZUFSP	221302	broad.mit.edu	37	6	116973311	116973311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116973311C>T	ENST00000368576.3	-	6	1249	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ZUFSP_ENST00000368573.1_Silent_p.Q279Q|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	336							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CGTCTCACATCTGTGGCAGCA	0.393																																						ENST00000368576.3																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(1006-1008)Gat>Aat		zinc finger with UFM1-specific peptidase domain							96.0	94.0	95.0					6																	116973311		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116973311C>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1006G>A	6.37:g.116973311C>T	ENSP00000357565:p.Asp336Asn					ZUFSP_ENST00000368573.1_Silent_p.Q279Q|ZUFSP_ENST00000471919.1_5'UTR	p.D336N	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	6	1249	-			336					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.1006G>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171752	0.78452	.	.	ENSG00000153975	ENST00000368576	T	0.40476	1.03	5.69	4.83	0.62350	.	0.185325	0.56097	D	0.000023	T	0.26122	0.0637	L	0.39085	1.19	0.80722	D	1	P	0.49253	0.921	P	0.48704	0.587	T	0.03423	-1.1038	10	0.15952	T	0.53	0.1019	14.9519	0.71080	0.0:0.9313:0.0:0.0687	.	336	Q96AP4	ZUFSP_HUMAN	N	336	ENSP00000357565:D336N	ENSP00000357565:D336N	D	-	1	0	ZUFSP	117080004	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.970000	0.76099	1.554000	0.49487	0.655000	0.94253	GAT		0.393	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		32	49	0	0	0	1	0	32	49				
USP43	124739	broad.mit.edu	37	17	9632155	9632155	+	Missense_Mutation	SNP	C	C	T	rs202235190		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632155C>T	ENST00000285199.7	+	15	3316	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.R1069C	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1074					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCGCCTCCCTCGTAAAGCCAG	0.632																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(2287-2289)Cgt>Tgt		ubiquitin specific peptidase 43							35.0	39.0	38.0					17																	9632155		1919	4140	6059	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9632155C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3220C>T	17.37:g.9632155C>T	ENSP00000285199:p.Arg1074Cys					USP43_ENST00000570475.1_Missense_Mutation_p.R1069C|USP43_ENST00000285199.6_Missense_Mutation_p.R1074C	p.R763C			Q70EL4	UBP43_HUMAN			15	3361	+			1074					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.2287C>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227757	0.58668	.	.	ENSG00000154914	ENST00000285199	T	0.12984	2.63	5.5	2.21	0.28008	.	3.684710	0.01023	N	0.004006	T	0.33265	0.0857	M	0.62723	1.935	0.44976	D	0.997995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;P;D	0.65010	0.795;0.931;0.795;0.931	T	0.11867	-1.0570	10	0.59425	D	0.04	-24.5546	6.0764	0.19917	0.3505:0.5614:0.0:0.0881	.	1069;763;1074;586	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	C	1074	ENSP00000285199:R1074C	ENSP00000285199:R1074C	R	+	1	0	USP43	9572880	0.905000	0.30787	0.964000	0.40570	0.255000	0.26057	2.202000	0.42743	0.858000	0.35431	0.655000	0.94253	CGT		0.632	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		22	24	0	0	0	1	0	22	24				
UNC5CL	222643	broad.mit.edu	37	6	40996205	40996205	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40996205C>T	ENST00000373164.1	-	8	1524	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Silent_p.Q488Q			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	488	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAGGTAGTTCTGGATGGCGG	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1462-1464)caG>caA		unc-5 homolog C (C. elegans)-like							28.0	27.0	27.0					6																	40996205		2179	4251	6430	SO:0001819	synonymous_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996205C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1464G>A	6.37:g.40996205C>T			OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Silent_p.Q488Q	p.Q488Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			9	1552	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		488			Death.		Q5TGU1	Silent	SNP	ENST00000373164.1	37	c.1464G>A	CCDS4847.1																																																																																				0.667	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		11	17	0	0	0	1	0	11	17				
HKR1	284459	broad.mit.edu	37	19	37853998	37853998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37853998C>T	ENST00000324411.4	+	6	1570	c.1301C>T	c.(1300-1302)aCa>aTa	p.T434I	HKR1_ENST00000392153.3_Missense_Mutation_p.T415I|HKR1_ENST00000544914.1_Missense_Mutation_p.T161I|HKR1_ENST00000589392.1_Missense_Mutation_p.T416I|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Missense_Mutation_p.T161I|HKR1_ENST00000541583.2_Missense_Mutation_p.T373I	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	434					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTAAGGACACACACAGGA	0.473																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(481-483)aCa>aTa		HKR1, GLI-Kruppel zinc finger family member							95.0	97.0	97.0					19																	37853998		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853998C>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1301C>T	19.37:g.37853998C>T	ENSP00000315505:p.Thr434Ile					HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Missense_Mutation_p.T416I|HKR1_ENST00000392153.3_Missense_Mutation_p.T415I|HKR1_ENST00000541583.2_Missense_Mutation_p.T373I|HKR1_ENST00000544914.1_Missense_Mutation_p.T161I|HKR1_ENST00000324411.4_Missense_Mutation_p.T434I	p.T161I			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2123	+			434					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.482C>T	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536810	0.45176	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.01005	5.45;5.45;5.45;5.45	3.08	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01124	0.0037	N	0.11698	0.16	0.58432	D	0.999999	B;P;B;P	0.46020	0.072;0.871;0.174;0.599	B;P;B;B	0.52710	0.07;0.707;0.07;0.406	T	0.80443	-0.1380	9	0.23891	T	0.37	.	9.6434	0.39853	0.0:0.8807:0.0:0.1193	.	373;415;434;416	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	I	161;213;415;470;434;373	ENSP00000437774:T161I;ENSP00000375994:T415I;ENSP00000315505:T434I;ENSP00000438261:T373I	ENSP00000315505:T434I	T	+	2	0	HKR1	42545838	0.000000	0.05858	0.996000	0.52242	0.983000	0.72400	-0.789000	0.04609	1.719000	0.51432	0.650000	0.86243	ACA		0.473	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		15	19	0	0	0	1	0	15	19				
SARS2	54938	broad.mit.edu	37	19	39421200	39421200	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39421200G>A	ENST00000221431.6	-	1	336	c.177C>T	c.(175-177)gaC>gaT	p.D59D	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Silent_p.D59D|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000430193.3_Silent_p.D59D|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000402029.3_5'Flank|MRPS12_ENST00000407800.2_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	59					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCGCTCTATGTCCAGCTGAG	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(175-177)gaC>gaT		seryl-tRNA synthetase 2, mitochondrial							83.0	76.0	78.0					19																	39421200		2203	4300	6503	SO:0001819	synonymous_variant	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421200G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.177C>T	19.37:g.39421200G>A			OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Silent_p.D59D|SARS2_ENST00000600042.1_Silent_p.D59D|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron	p.D59D	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	336	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		59					A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	37	c.177C>T	CCDS33017.1																																																																																				0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		5	75	0	0	0	1	0	5	75				
GPR97	222487	broad.mit.edu	37	16	57717923	57717923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57717923C>A	ENST00000333493.4	+	9	1122	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	GPR97_ENST00000450388.3_Missense_Mutation_p.L201M|GPR97_ENST00000327655.6_Missense_Mutation_p.L111M|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	321					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCTGAATCTGGCCTTCTT	0.592																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(961-963)Ctg>Atg		G protein-coupled receptor 97							88.0	90.0	89.0					16																	57717923		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57717923C>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.961C>A	16.37:g.57717923C>A	ENSP00000332900:p.Leu321Met					GPR97_ENST00000450388.3_Missense_Mutation_p.L201M|GPR97_ENST00000327655.6_Missense_Mutation_p.L111M|RP11-405F3.4_ENST00000563062.1_RNA	p.L321M	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			9	1122	+			321					Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.961C>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602287	0.46423	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.63417	0.76;-0.04;0.76	5.26	3.15	0.36227	GPCR, family 2-like (1);	0.155345	0.30028	N	0.010589	T	0.75302	0.3831	M	0.76574	2.34	0.34556	D	0.711839	D	0.89917	1.0	D	0.81914	0.995	T	0.82165	-0.0592	10	0.66056	D	0.02	.	9.851	0.41057	0.0:0.7835:0.1391:0.0774	.	321	Q86Y34	GPR97_HUMAN	M	321;111;201	ENSP00000332900:L321M;ENSP00000331199:L111M;ENSP00000404803:L201M	ENSP00000331199:L111M	L	+	1	2	GPR97	56275424	0.050000	0.20438	0.916000	0.36221	0.543000	0.35085	0.482000	0.22276	1.200000	0.43188	0.591000	0.81541	CTG		0.592	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		9	83	1	0	0.000274275	1	0.000298791	9	83				
HPSE2	60495	broad.mit.edu	37	10	100481452	100481452	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100481452A>G	ENST00000370552.3	-	5	977	c.918T>C	c.(916-918)atT>atC	p.I306I	HPSE2_ENST00000370546.1_Silent_p.I306I|HPSE2_ENST00000370549.1_Silent_p.I248I|HPSE2_ENST00000404542.1_Silent_p.I194I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	306					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGGCCGCCCAATATTAGGGC	0.438																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(916-918)atT>atC		heparanase 2							59.0	58.0	58.0					10																	100481452		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100481452A>G	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.918T>C	10.37:g.100481452A>G						HPSE2_ENST00000370549.1_Silent_p.I248I|HPSE2_ENST00000370546.1_Silent_p.I306I|HPSE2_ENST00000404542.1_Silent_p.I194I	p.I306I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	5	977	-			306					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.918T>C	CCDS7477.1																																																																																				0.438	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		13	32	0	0	0	1	0	13	32				
AMIGO1	57463	broad.mit.edu	37	1	110050380	110050380	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050380G>A	ENST00000369864.4	-	2	1504	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	AMIGO1_ENST00000369862.1_Silent_p.V385V					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGGACCAGGACCACACTAA	0.537																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1153-1155)gtC>gtT		adhesion molecule with Ig-like domain 1							125.0	112.0	117.0					1																	110050380		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050380G>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1155C>T	1.37:g.110050380G>A						AMIGO1_ENST00000369862.1_Silent_p.V385V	p.V385V			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1504	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	385						Silent	SNP	ENST00000369864.4	37	c.1155C>T	CCDS30795.1																																																																																				0.537	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		39	27	0	0	0	1	0	39	27				
CTNNA2	1496	broad.mit.edu	37	2	80874864	80874864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:80874864C>T	ENST00000402739.4	+	18	2734	c.2729C>T	c.(2728-2730)gCt>gTt	p.A910V	CTNNA2_ENST00000343114.3_Missense_Mutation_p.A541V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A817V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A896V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A862V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	910					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGATGAAGGCTCCAGAGAAG	0.493																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2584-2586)gCt>gTt		catenin (cadherin-associated protein), alpha 2							154.0	156.0	155.0					2																	80874864		1901	4141	6042	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874864C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2729C>T	2.37:g.80874864C>T	ENSP00000384638:p.Ala910Val					CTNNA2_ENST00000541047.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A910V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A541V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A817V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A896V	p.A862V			P26232	CTNA2_HUMAN			22	3309	+			910					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2585C>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.155359	0.78114	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	M	0.81497	2.545	0.80722	D	1	P;P;P;P	0.49185	0.92;0.592;0.57;0.739	P;P;B;B	0.49853	0.624;0.579;0.3;0.372	T	0.60063	-0.7336	9	.	.	.	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	494;910;817;862	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	V	862;862;896;910;862;817;541	ENSP00000418191:A862V;ENSP00000419295:A862V;ENSP00000355398:A896V;ENSP00000384638:A910V;ENSP00000444675:A862V;ENSP00000441705:A817V;ENSP00000341500:A541V	.	A	+	2	0	CTNNA2	80728375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	GCT		0.493	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		67	93	0	0	0	1	0	67	93				
APPL1	26060	broad.mit.edu	37	3	57294736	57294736	+	Silent	SNP	C	C	T	rs142605137	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57294736C>T	ENST00000288266.3	+	19	1923	c.1776C>T	c.(1774-1776)agC>agT	p.S592S		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	592	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GGACATCAAGCGGGAGAAGTG	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		13028	0.002		0.0	False		,,,				2504	0.0					ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1774-1776)agC>agT		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1		C		1,4405	2.1+/-5.4	0,1,2202	185.0	185.0	185.0		1776	-1.5	1.0	3	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APPL1	NM_012096.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		592/710	57294736	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57294736C>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1776C>T	3.37:g.57294736C>T							p.S592S	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	19	1923	+			592			PID.		Q9P2B9	Silent	SNP	ENST00000288266.3	37	c.1776C>T	CCDS2882.1																																																																																				0.398	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		5	213	0	0	0	1	0	5	213				
CREBBP	1387	broad.mit.edu	37	16	3786041	3786041	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3786041G>T	ENST00000262367.5	-	28	5533	c.4724C>A	c.(4723-4725)aCt>aAt	p.T1575N	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1537N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1575	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGTACCTCAGTGGTTTCACT	0.542			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4723-4725)aCt>aAt		CREB binding protein							273.0	188.0	217.0					16																	3786041		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3786041G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4724C>A	16.37:g.3786041G>T	ENSP00000262367:p.Thr1575Asn					CREBBP_ENST00000382070.3_Missense_Mutation_p.T1537N	p.T1575N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	28	5533	-		Ovarian(90;0.0266)	1575			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4724C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	13.83	2.354425	0.41700	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93488	-3.23;-3.23	5.2	5.2	0.72013	.	0.149795	0.46145	D	0.000316	D	0.86661	0.5986	N	0.01800	-0.715	0.47547	D	0.999458	B;B	0.34147	0.438;0.438	B;B	0.44044	0.439;0.439	D	0.85137	0.0978	10	0.18710	T	0.47	-2.8207	18.0957	0.89489	0.0:0.0:1.0:0.0	.	1605;1575	Q4LE28;Q92793	.;CBP_HUMAN	N	1575;1605;1537;164	ENSP00000262367:T1575N;ENSP00000371502:T1537N	ENSP00000262367:T1575N	T	-	2	0	CREBBP	3726042	1.000000	0.71417	0.258000	0.24420	0.373000	0.29922	6.630000	0.74272	2.585000	0.87301	0.555000	0.69702	ACT		0.542	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		11	71	1	0	1.58986e-06	1	1.84011e-06	11	71				
FAM160B1	57700	broad.mit.edu	37	10	116603563	116603563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116603563G>A	ENST00000369248.4	+	7	1215	c.880G>A	c.(880-882)Gcg>Acg	p.A294T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A294T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	294										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCAGAGCCTGCGGCTGCAAA	0.473																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(880-882)Gcg>Acg		family with sequence similarity 160, member B1							90.0	75.0	80.0					10																	116603563		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116603563G>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.880G>A	10.37:g.116603563G>A	ENSP00000358251:p.Ala294Thr					FAM160B1_ENST00000369250.3_Missense_Mutation_p.A294T	p.A294T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			7	1215	+			294					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.880G>A	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571581	0.65765	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.65364	-0.15;-0.15	5.39	4.49	0.54785	.	0.095769	0.64402	D	0.000001	T	0.64227	0.2579	M	0.72118	2.19	0.80722	D	1	B;B	0.32653	0.246;0.379	B;B	0.40329	0.326;0.21	T	0.59397	-0.7462	10	0.13108	T	0.6	-7.2923	14.0802	0.64917	0.0726:0.0:0.9274:0.0	.	294;294	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	T	294	ENSP00000358251:A294T;ENSP00000358253:A294T	ENSP00000358251:A294T	A	+	1	0	FAM160B1	116593553	1.000000	0.71417	0.067000	0.19924	0.936000	0.57629	6.495000	0.73665	1.274000	0.44362	0.655000	0.94253	GCG		0.473	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		6	37	0	0	0	1	0	6	37				
MTR	4548	broad.mit.edu	37	1	237023145	237023145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237023145G>T	ENST00000366577.5	+	19	2360	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	MTR_ENST00000535889.1_Nonsense_Mutation_p.G656*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	656					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.G656*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAAGGCACAGGAGGGAAGAA	0.423																																						ENST00000366577.5																			1	Substitution - Nonsense(1)	p.G656*(1)	endometrium(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(1966-1968)Gga>Tga		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						131.0	123.0	125.0					1																	237023145		2203	4300	6503	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237023145G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1966G>T	1.37:g.237023145G>T	ENSP00000355536:p.Gly656*					MTR_ENST00000535889.1_Nonsense_Mutation_p.G656*	p.G656*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	19	2360	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	656					A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.1966G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857470	0.91433	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.24	4.33	0.51752	.	0.219349	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.4154	15.7636	0.78106	0.0:0.1365:0.8635:0.0	.	.	.	.	X	510;656;656;210	.	ENSP00000355535:G210X	G	+	1	0	MTR	235089768	1.000000	0.71417	0.996000	0.52242	0.639000	0.38242	6.907000	0.75724	1.432000	0.47375	0.655000	0.94253	GGA		0.423	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		22	38	1	0	5.35356e-11	1	6.64197e-11	22	38				
PLA2G4B	100137049	broad.mit.edu	37	15	42138145	42138145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42138145C>T	ENST00000452633.1	+	17	1852	c.1500C>T	c.(1498-1500)atC>atT	p.I500I	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.I731I|PLA2G4B_ENST00000542534.2_Silent_p.I731I|PLA2G4B_ENST00000458483.1_Silent_p.I500I|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.I731I			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	500	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TTTCAGGTATCTGGAGCAACC	0.612																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2191-2193)atC>atT									44.0	47.0	46.0					15																	42138145		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42138145C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1500C>T	15.37:g.42138145C>T						PLA2G4B_ENST00000452633.1_Silent_p.I500I|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.I500I|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.I731I	p.I731I	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			21	2202	+			500			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2193C>T	CCDS45241.1																																																																																				0.612	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		23	38	0	0	0	1	0	23	38				
DGKK	139189	broad.mit.edu	37	X	50144083	50144083	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144083G>A	ENST00000376025.2	-	0	1422							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACTGATGAGCGATGGCTTCTG	0.483																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							78.0	68.0	71.0					X																	50144083		1958	4136	6094			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50144083G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50144083G>A										Q5KSL6	DGKK_HUMAN			0	1422	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.483	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		4	10	0	0	0	1	0	4	10				
TRIML2	205860	broad.mit.edu	37	4	189013034	189013034	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189013034T>G	ENST00000512729.1	-	7	1031	c.657A>C	c.(655-657)agA>agC	p.R219S	TRIML2_ENST00000326754.3_Missense_Mutation_p.R244S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	219	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATCTCATAGTTCTCAGGTCCT	0.512																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(655-657)agA>agC		tripartite motif family-like 2							85.0	85.0	85.0					4																	189013034		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189013034T>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.657A>C	4.37:g.189013034T>G	ENSP00000422581:p.Arg219Ser					TRIML2_ENST00000326754.3_Missense_Mutation_p.R244S	p.R219S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1031	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	219			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.657A>C	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531335	0.45073	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.13420	2.62;2.59	5.64	0.56	0.17279	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.112248	0.41001	D	0.000975	T	0.33702	0.0872	M	0.89414	3.03	0.43930	D	0.996587	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.06215	-1.0839	10	0.87932	D	0	.	5.042	0.14463	0.0:0.3248:0.154:0.5212	.	244;219	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	S	219;244	ENSP00000422581:R219S;ENSP00000317498:R244S	ENSP00000317498:R244S	R	-	3	2	TRIML2	189250028	0.000000	0.05858	0.640000	0.29408	0.203000	0.24098	-0.270000	0.08584	0.163000	0.19507	-0.290000	0.09829	AGA		0.512	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		16	41	0	0	0	1	0	16	41				
RP1L1	94137	broad.mit.edu	37	8	10467277	10467277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10467277G>A	ENST00000382483.3	-	4	4554	c.4331C>T	c.(4330-4332)gCa>gTa	p.A1444V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1524					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTGCCCTCTGCGGGGCACGG	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(4330-4332)gCa>gTa		retinitis pigmentosa 1-like 1							111.0	124.0	120.0					8																	10467277		1972	4168	6140	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467277G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4331C>T	8.37:g.10467277G>A	ENSP00000371923:p.Ala1444Val						p.A1444V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4554	-			1444					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4331C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	2.561	-0.301847	0.05495	.	.	ENSG00000183638	ENST00000382483	T	0.04156	3.69	4.78	0.913	0.19354	.	2.086770	0.02877	U	0.132436	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.41466	-0.9507	10	0.42905	T	0.14	1.2785	8.2849	0.31922	0.3512:0.0:0.6488:0.0	.	1444	A6NKC6	.	V	1444	ENSP00000371923:A1444V	ENSP00000371923:A1444V	A	-	2	0	RP1L1	10504687	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.293000	0.08320	0.239000	0.21243	-0.258000	0.10820	GCA		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			17	192	0	0	0	1	0	17	192				
GPR161	23432	broad.mit.edu	37	1	168065970	168065970	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168065970G>T	ENST00000367838.1	-	5	1188	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	GPR161_ENST00000537209.1_Missense_Mutation_p.S312Y|GPR161_ENST00000271357.5_Missense_Mutation_p.S292Y|GPR161_ENST00000367836.1_Missense_Mutation_p.S160Y|GPR161_ENST00000361697.2_Missense_Mutation_p.S292Y|GPR161_ENST00000367835.1_Missense_Mutation_p.S292Y|GPR161_ENST00000546300.1_Missense_Mutation_p.S178Y|GPR161_ENST00000539777.1_Missense_Mutation_p.S214Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	292					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAGGGCCTCAGAGGCGATGAC	0.617																																						ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(874-876)tCt>tAt		G protein-coupled receptor 161							58.0	62.0	61.0					1																	168065970		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168065970G>T	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.875C>A	1.37:g.168065970G>T	ENSP00000356812:p.Ser292Tyr					GPR161_ENST00000546300.1_Missense_Mutation_p.S178Y|GPR161_ENST00000367836.1_Missense_Mutation_p.S160Y|GPR161_ENST00000271357.5_Missense_Mutation_p.S292Y|GPR161_ENST00000537209.1_Missense_Mutation_p.S312Y|GPR161_ENST00000539777.1_Missense_Mutation_p.S214Y|GPR161_ENST00000367835.1_Missense_Mutation_p.S292Y|GPR161_ENST00000361697.2_Missense_Mutation_p.S292Y	p.S292Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			5	1188	-	all_hematologic(923;0.215)		292					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.875C>A	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539321	0.45176	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.48	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.155272	0.56097	D	0.000025	T	0.15003	0.0362	N	0.10874	0.06	0.36887	D	0.889706	B;B;P;B;B;B	0.51351	0.001;0.051;0.944;0.006;0.005;0.008	B;B;P;B;B;B	0.44811	0.006;0.021;0.461;0.009;0.004;0.015	T	0.06752	-1.0809	9	0.72032	D	0.01	-11.066	16.2145	0.82195	0.0:0.1335:0.8665:0.0	.	312;178;214;312;292;292	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	Y	292;292;160;292;178;214;312;292	ENSP00000356812:S292Y;ENSP00000271357:S292Y;ENSP00000356810:S160Y;ENSP00000356809:S292Y;ENSP00000444348:S178Y;ENSP00000437576:S214Y;ENSP00000441039:S312Y;ENSP00000355194:S292Y	ENSP00000271357:S292Y	S	-	2	0	GPR161	166332594	1.000000	0.71417	0.863000	0.33907	0.851000	0.48451	4.558000	0.60789	1.419000	0.47118	0.561000	0.74099	TCT		0.617	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		6	73	1	0	3.59834e-05	1	4.01776e-05	6	73				
PDE6B	5158	broad.mit.edu	37	4	656910	656910	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:656910G>A	ENST00000496514.1	+	15	1875	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K	PDE6B_ENST00000255622.6_Silent_p.K618K|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Silent_p.K339K			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	618					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCTTGGCTAAGCTCCACGGCT	0.632																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1852-1854)aaG>aaA		phosphodiesterase 6B, cGMP-specific, rod, beta							108.0	99.0	102.0					4																	656910		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:656910G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1854G>A	4.37:g.656910G>A						PDE6B_ENST00000429163.2_Silent_p.K339K|PDE6B_ENST00000496514.1_Silent_p.K618K	p.K618K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			15	1897	+			618					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.1854G>A	CCDS33932.1																																																																																				0.632	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		4	39	0	0	0	1	0	4	39				
WDR49	151790	broad.mit.edu	37	3	167245662	167245662	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245662G>C	ENST00000308378.3	-	11	1799	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	WDR49_ENST00000476376.1_Missense_Mutation_p.D323E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	498										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAATACTGCAGTCTGCAGAGG	0.403																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1492-1494)gaC>gaG		WD repeat domain 49							163.0	146.0	152.0					3																	167245662		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167245662G>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1494C>G	3.37:g.167245662G>C	ENSP00000311343:p.Asp498Glu					WDR49_ENST00000476376.1_Missense_Mutation_p.D323E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	p.D498E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			11	1799	-			498					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1494C>G	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880456	0.51801	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.54071	0.72;0.59	5.47	2.68	0.31781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.141954	0.64402	D	0.000009	T	0.67998	0.2953	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.69367	-0.5164	10	0.87932	D	0	.	9.8617	0.41118	0.2013:0.0:0.7987:0.0	.	498	Q8IV35	WDR49_HUMAN	E	498;323	ENSP00000311343:D498E;ENSP00000420508:D323E	ENSP00000311343:D498E	D	-	3	2	WDR49	168728356	1.000000	0.71417	0.999000	0.59377	0.454000	0.32378	2.006000	0.40874	0.688000	0.31529	0.544000	0.68410	GAC		0.403	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		20	31	0	0	0	1	0	20	31				
NRIP3	56675	broad.mit.edu	37	11	9009126	9009126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9009126G>A	ENST00000309166.3	-	3	504	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	NRIP3_ENST00000531090.1_Missense_Mutation_p.L131F	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAAGAGATGAGATTATATAGG	0.463																																						ENST00000309166.3																			0				large_intestine(1)|lung(4)|skin(1)|stomach(1)	7						c.(391-393)Ctc>Ttc		nuclear receptor interacting protein 3							167.0	136.0	146.0					11																	9009126		2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009126G>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.391C>T	11.37:g.9009126G>A	ENSP00000310205:p.Leu131Phe					NRIP3_ENST00000531090.1_Missense_Mutation_p.L131F	p.L131F	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	3	504	-			131					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.391C>T	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111965	0.77210	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.47528	0.84	5.91	5.91	0.95273	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.063006	0.64402	D	0.000004	T	0.57272	0.2042	L	0.59436	1.845	0.44890	D	0.997905	P	0.51147	0.942	P	0.55455	0.776	T	0.48163	-0.9059	10	0.22109	T	0.4	-13.76	14.5563	0.68103	0.0:0.0:0.853:0.147	.	131	Q9NQ35	NRIP3_HUMAN	F	131;131;124	ENSP00000310205:L131F	ENSP00000310205:L131F	L	-	1	0	NRIP3	8965702	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.790000	0.47821	2.796000	0.96246	0.655000	0.94253	CTC		0.463	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		42	49	0	0	0	1	0	42	49				
SNED1	25992	broad.mit.edu	37	2	242021117	242021117	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242021117C>T	ENST00000310397.8	+	28	3942	c.3942C>T	c.(3940-3942)aaC>aaT	p.N1314N	SNED1_ENST00000342631.6_Silent_p.N1281N|MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000405547.3_Silent_p.N1281N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1314	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTTCAGAAAACCCCTGTCAGA	0.607																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(3940-3942)aaC>aaT		sushi, nidogen and EGF-like domains 1							27.0	31.0	29.0					2																	242021117		1953	4146	6099	SO:0001819	synonymous_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242021117C>T	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3942C>T	2.37:g.242021117C>T						SNED1_ENST00000342631.6_Silent_p.N1281N|SNED1_ENST00000405547.3_Silent_p.N1281N	p.N1314N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	28	3942	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1314			EGF-like 15.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	c.3942C>T	CCDS46562.1																																																																																				0.607	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		4	4	0	0	0	1	0	4	4				
DOPEY1	23033	broad.mit.edu	37	6	83831684	83831684	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83831684T>G	ENST00000349129.2	+	11	1395	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.F370V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.F370V|DOPEY1_ENST00000536812.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	379					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATTGAAGTGTTTAGAACATT	0.338																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(1135-1137)Ttt>Gtt		dopey family member 1							108.0	110.0	109.0					6																	83831684		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83831684T>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1135T>G	6.37:g.83831684T>G	ENSP00000195654:p.Phe379Val					DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.F370V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.F370V	p.F379V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	11	1395	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	379					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1135T>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.325119	0.60634	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.23950	1.89;1.88;1.88	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	L	0.45051	1.395	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.994	D;D;D	0.72982	0.979;0.968;0.977	T	0.02417	-1.1162	10	0.33141	T	0.24	.	15.5893	0.76512	0.0:0.0:0.0:1.0	.	276;370;379	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	379;370;370	ENSP00000195654:F379V;ENSP00000237163:F370V;ENSP00000358754:F370V	ENSP00000237163:F370V	F	+	1	0	DOPEY1	83888403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.905000	0.87416	2.149000	0.67028	0.528000	0.53228	TTT		0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		34	49	0	0	0	1	0	34	49				
ARID2	196528	broad.mit.edu	37	12	46246368	46246368	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246368G>A	ENST00000334344.6	+	15	4634	c.4462G>A	c.(4462-4464)Gac>Aac	p.D1488N	ARID2_ENST00000422737.1_Missense_Mutation_p.D1339N|ARID2_ENST00000457135.1_Missense_Mutation_p.D96N|ARID2_ENST00000444670.1_Missense_Mutation_p.D1098N|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1488					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCAGTTCCCGACTCAGGATC	0.458			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4462-4464)Gac>Aac		AT rich interactive domain 2 (ARID, RFX-like)							112.0	106.0	108.0					12																	46246368		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246368G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4462G>A	12.37:g.46246368G>A	ENSP00000335044:p.Asp1488Asn					ARID2_ENST00000444670.1_Missense_Mutation_p.D1098N|ARID2_ENST00000457135.1_Missense_Mutation_p.D96N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D1339N	p.D1488N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4634	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1488					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4462G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	9.322	1.058420	0.19987	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.29655	1.56	6.02	5.13	0.70059	.	0.092145	0.64402	D	0.000001	T	0.19406	0.0466	N	0.08118	0	0.24881	N	0.992228	B;B;B	0.18863	0.004;0.004;0.031	B;B;B	0.11329	0.0;0.0;0.006	T	0.13548	-1.0505	10	0.41790	T	0.15	-2.9086	17.1683	0.86821	0.0:0.8687:0.1313:0.0	.	1488;1098;1488	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	N	1488;605;605;1339;1098;96	ENSP00000335044:D1488N	ENSP00000335044:D1488N	D	+	1	0	ARID2	44532635	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.103000	0.41806	1.558000	0.49541	-0.165000	0.13383	GAC		0.458	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		31	58	0	0	0	1	0	31	58				
DOK4	55715	broad.mit.edu	37	16	57507814	57507814	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57507814C>T	ENST00000340099.4	-	7	1108	c.737G>A	c.(736-738)aGg>aAg	p.R246K	DOK4_ENST00000569548.1_Splice_Site_p.R246K|DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000566936.1_Splice_Site_p.R246K	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	246					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CTGCCTCACCCTCACGTTCTT	0.652																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.e6+1		docking protein 4							85.0	81.0	82.0					16																	57507814		2198	4300	6498	SO:0001630	splice_region_variant	0						insulin receptor binding	g.chr16:57507814C>T	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.738+1G>A	16.37:g.57507814C>T						DOK4_ENST00000340099.4_Splice_Site_p.R246_splice|DOK4_ENST00000569548.1_Splice_Site_p.R246_splice	p.R246_splice			Q8TEW6	DOK4_HUMAN			6	1034	-			246					O75209|Q9BTP2|Q9NVV3	Splice_Site	SNP	ENST00000340099.4	37	c.738_splice	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303390	0.60195	.	.	ENSG00000125170	ENST00000340099	D	0.91686	-2.89	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	L	0.33485	1.01	0.38955	D	0.95843	B;B	0.19200	0.002;0.034	B;B	0.15052	0.006;0.012	T	0.83023	-0.0166	10	0.09338	T	0.73	-1.9886	18.2125	0.89874	0.0:1.0:0.0:0.0	.	246;246	Q8TEW6;B2RD67	DOK4_HUMAN;.	K	246	ENSP00000344277:R246K	ENSP00000344277:R246K	R	-	2	0	DOK4	56065315	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.629000	0.67798	2.539000	0.85634	0.561000	0.74099	AGG		0.652	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3		Missense_Mutation	13	37	0	0	0	1	0	13	37				
ZBTB40	9923	broad.mit.edu	37	1	22828087	22828087	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22828087C>A	ENST00000375647.4	+	4	1141	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000404138.1_Missense_Mutation_p.L312M	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	312					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTTGTGTCCCTGTTGAGGCT	0.443																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(934-936)Ctg>Atg		zinc finger and BTB domain containing 40							120.0	106.0	111.0					1																	22828087		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828087C>A	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.934C>A	1.37:g.22828087C>A	ENSP00000364798:p.Leu312Met					ZBTB40_ENST00000375647.4_Missense_Mutation_p.L312M|ZBTB40_ENST00000374651.4_Intron	p.L312M	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	5	1445	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	312					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.934C>A	CCDS224.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.32|15.32	2.799212|2.799212	0.50208|0.50208	.|.	.|.	ENSG00000184677|ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239|ENST00000374649	T;T;T|.	0.19938|.	2.11;2.11;2.22|.	5.57|5.57	4.56|4.56	0.56223|0.56223	.|.	0.000000|.	0.41294|.	D|.	0.000918|.	T|T	0.60996|0.60996	0.2312|0.2312	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.65253|0.65253	-0.6213|-0.6213	10|6	0.87932|0.87932	D|D	0|0	-10.6913|-10.6913	4.448|4.448	0.11607|0.11607	0.0:0.7175:0.0:0.2825|0.0:0.7175:0.0:0.2825	.|.	312|.	Q9NUA8|.	ZBT40_HUMAN|.	M|H	312|228	ENSP00000384527:L312M;ENSP00000364798:L312M;ENSP00000383098:L312M|.	ENSP00000364798:L312M|ENSP00000363780:P228H	L|P	+|+	1|2	2|0	ZBTB40|ZBTB40	22700674|22700674	0.428000|0.428000	0.25522|0.25522	1.000000|1.000000	0.80357|0.80357	0.757000|0.757000	0.42996|0.42996	0.540000|0.540000	0.23191|0.23191	2.637000|2.637000	0.89404|0.89404	0.644000|0.644000	0.83932|0.83932	CTG|CCT		0.443	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		5	51	1	0	1.23904e-05	1	1.39987e-05	5	51				
FBXO43	286151	broad.mit.edu	37	8	101153118	101153118	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153118C>A	ENST00000428847.2	-	2	1680	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	455					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TAATCTTTTCCTCTTGCTTTT	0.423																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1363-1365)aGg>aTg		F-box protein 43							173.0	161.0	165.0					8																	101153118		1841	4091	5932	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101153118C>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1364G>T	8.37:g.101153118C>A	ENSP00000403293:p.Arg455Met						p.R455M	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1680	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		455						Missense_Mutation	SNP	ENST00000428847.2	37	c.1364G>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503470	0.44558	.	.	ENSG00000156509	ENST00000428847	T	0.40225	1.04	5.06	4.18	0.49190	.	0.157112	0.56097	D	0.000032	T	0.59972	0.2233	M	0.73598	2.24	0.46609	D	0.999121	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.65845	-0.6069	10	0.72032	D	0.01	-10.1191	13.7838	0.63097	0.0:0.9256:0.0:0.0744	.	421;455	C9J908;Q4G163	.;FBX43_HUMAN	M	455	ENSP00000403293:R455M	ENSP00000403293:R455M	R	-	2	0	FBXO43	101222294	0.998000	0.40836	0.996000	0.52242	0.354000	0.29330	1.597000	0.36729	1.256000	0.44068	0.655000	0.94253	AGG		0.423	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		10	172	1	0	0.000978159	1	0.00105116	10	172				
PM20D2	135293	broad.mit.edu	37	6	89862821	89862821	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89862821T>C	ENST00000275072.4	+	3	769	c.674T>C	c.(673-675)tTa>tCa	p.L225S		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	225						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TGGGAAGGATTAAATGCATTA	0.358																																						ENST00000275072.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12						c.(673-675)tTa>tCa		peptidase M20 domain containing 2							110.0	99.0	102.0					6																	89862821		2203	4300	6503	SO:0001583	missense	135293						hydrolase activity	g.chr6:89862821T>C	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.674T>C	6.37:g.89862821T>C	ENSP00000275072:p.Leu225Ser						p.L225S	NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	3	769	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	225					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.674T>C	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126069	0.37533	.	.	ENSG00000146281	ENST00000275072	T	0.57273	0.41	5.69	5.69	0.88448	Peptidase M20, dimerisation (2);	0.316536	0.33040	N	0.005343	T	0.23094	0.0558	N	0.12182	0.205	0.33319	D	0.567104	B	0.13145	0.007	B	0.19946	0.027	T	0.16012	-1.0417	10	0.56958	D	0.05	-2.7564	15.9526	0.79855	0.0:0.0:0.0:1.0	.	225	Q8IYS1	P20D2_HUMAN	S	225	ENSP00000275072:L225S	ENSP00000275072:L225S	L	+	2	0	PM20D2	89919540	1.000000	0.71417	0.838000	0.33150	0.358000	0.29455	7.247000	0.78257	2.168000	0.68352	0.533000	0.62120	TTA		0.358	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		5	74	0	0	0	1	0	5	74				
RP1L1	94137	broad.mit.edu	37	8	10465182	10465182	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465182C>A	ENST00000382483.3	-	4	6649	c.6426G>T	c.(6424-6426)caG>caT	p.Q2142H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2222	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCAGGCTGGGCCTCCC	0.617																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6424-6426)caG>caT		retinitis pigmentosa 1-like 1							156.0	170.0	166.0					8																	10465182		1908	4113	6021	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465182C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6426G>T	8.37:g.10465182C>A	ENSP00000371923:p.Gln2142His						p.Q2142H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6649	-			2142					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6426G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	5.258	0.233019	0.09969	.	.	ENSG00000183638	ENST00000382483	T	0.08102	3.13	1.74	-1.08	0.09936	.	.	.	.	.	T	0.03220	0.0094	N	0.14661	0.345	0.09310	N	1	P	0.47034	0.889	B	0.31337	0.128	T	0.40213	-0.9575	9	0.49607	T	0.09	.	5.1752	0.15131	0.0:0.4629:0.3941:0.1429	.	2142	A6NKC6	.	H	2142	ENSP00000371923:Q2142H	ENSP00000371923:Q2142H	Q	-	3	2	RP1L1	10502592	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.221000	0.02968	-0.558000	0.06118	-0.494000	0.04653	CAG		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			11	178	1	0	4.36969e-10	1	5.35656e-10	11	178				
LRRN1	57633	broad.mit.edu	37	3	3887498	3887498	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3887498C>T	ENST00000319331.3	+	2	1934	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	391	LRRCT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACATCCGCTTCATGGAGCCCC	0.502																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1171-1173)ttC>ttT		leucine rich repeat neuronal 1							89.0	92.0	91.0					3																	3887498		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887498C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1173C>T	3.37:g.3887498C>T						SUMF1_ENST00000534863.1_Intron	p.F391F	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1934	+			391			LRRCT.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1173C>T	CCDS33685.1																																																																																				0.502	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		6	65	0	0	0	1	0	6	65				
C2orf42	54980	broad.mit.edu	37	2	70408334	70408334	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70408334C>T	ENST00000264434.2	-	3	1163	c.784G>A	c.(784-786)Gct>Act	p.A262T	C2orf42_ENST00000420306.1_Missense_Mutation_p.A262T|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	262										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						AATTCCTGAGCCAGTGTCTCA	0.428																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(784-786)Gct>Act		chromosome 2 open reading frame 42							55.0	54.0	54.0					2																	70408334		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70408334C>T	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.784G>A	2.37:g.70408334C>T	ENSP00000264434:p.Ala262Thr					C2orf42_ENST00000420306.1_Missense_Mutation_p.A262T	p.A262T	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	1163	-			262					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.784G>A	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093686	0.36952	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	T;T	0.40476	1.03;1.03	4.93	4.93	0.64822	.	0.169738	0.51477	D	0.000084	T	0.34861	0.0912	L	0.38531	1.155	0.41345	D	0.987326	B	0.28713	0.22	B	0.29267	0.1	T	0.10823	-1.0613	10	0.19590	T	0.45	-12.6267	16.9372	0.86206	0.0:1.0:0.0:0.0	.	262	Q9NWW7	CB042_HUMAN	T	262	ENSP00000264434:A262T;ENSP00000404515:A262T	ENSP00000264434:A262T	A	-	1	0	C2orf42	70261838	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.701000	0.47094	2.559000	0.86315	0.460000	0.39030	GCT		0.428	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		5	59	0	0	0	1	0	5	59				
SERPINB13	5275	broad.mit.edu	37	18	61264593	61264593	+	Missense_Mutation	SNP	C	C	A	rs199611833		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61264593C>A	ENST00000344731.5	+	8	1274	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P339H	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	391					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTTCTTCTCCTTAAGATGAT	0.403																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(1171-1173)cCt>cAt		serpin peptidase inhibitor, clade B (ovalbumin), member 13		C	HIS/PRO	1,4405	2.1+/-5.4	0,1,2202	83.0	72.0	76.0		1172	5.4	1.0	18		76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SERPINB13	NM_012397.3	77	0,3,6500	AA,AC,CC		0.0233,0.0227,0.0231	probably-damaging	391/392	61264593	3,13003	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264593C>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.1172C>A	18.37:g.61264593C>A	ENSP00000341584:p.Pro391His					SERPINB13_ENST00000269489.5_Missense_Mutation_p.P339H	p.P391H	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			8	1274	+			391					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.1172C>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510055	0.85282	2.27E-4	2.33E-4	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	T;D	0.96830	0.27;-4.14	5.4	5.4	0.78164	Serpin domain (3);	0.000000	0.53938	D	0.000056	D	0.98963	0.9647	H	0.97829	4.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99418	1.0932	10	0.87932	D	0	.	18.1788	0.89771	0.0:1.0:0.0:0.0	.	400;309;391	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	H	339;309;391	ENSP00000269489:P339H;ENSP00000341584:P391H	ENSP00000269489:P339H	P	+	2	0	SERPINB13	59415573	1.000000	0.71417	0.989000	0.46669	0.835000	0.47333	5.791000	0.69045	2.541000	0.85698	0.557000	0.71058	CCT		0.403	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		36	46	1	0	6.70999e-13	1	8.46507e-13	36	46				
AIM1L	55057	broad.mit.edu	37	1	26663841	26663841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26663841C>T	ENST00000308182.5	-	9	968	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Missense_Mutation_p.R351Q			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	180	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTGGTGGCCCCGGAAGCCCTC	0.602																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1051-1053)cGg>cAg		absent in melanoma 1-like							62.0	62.0	62.0					1																	26663841		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26663841C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.539G>A	1.37:g.26663841C>T	ENSP00000310435:p.Arg180Gln					AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Missense_Mutation_p.R180Q	p.R351Q	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	9	1101	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	180			Beta/gamma crystallin 'Greek key' 8.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1052G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.126055	0.94429	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.76578	-1.03;-1.03	4.75	4.75	0.60458	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.469026	0.25978	N	0.027083	T	0.81875	0.4915	L	0.56124	1.755	0.80722	D	1	D;D	0.67145	0.989;0.996	P;P	0.57468	0.821;0.805	T	0.77892	-0.2418	10	0.18276	T	0.48	.	17.5356	0.87830	0.0:1.0:0.0:0.0	.	97;180	Q9NTH7;Q8N1P7	.;AIM1L_HUMAN	Q	351;180	ENSP00000433931:R351Q;ENSP00000310435:R180Q	ENSP00000310435:R180Q	R	-	2	0	AIM1L	26536428	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	3.563000	0.53784	2.472000	0.83506	0.561000	0.74099	CGG		0.602	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		20	26	0	0	0	1	0	20	26				
BRICD5	283870	broad.mit.edu	37	16	2260576	2260576	+	Missense_Mutation	SNP	C	C	T	rs376322862	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2260576C>T	ENST00000562360.1	-	2	126	c.127G>A	c.(127-129)Gct>Act	p.A43T	BRICD5_ENST00000328540.3_Missense_Mutation_p.A43T|RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000566018.1_Missense_Mutation_p.A43T			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	43						integral component of membrane (GO:0016021)											ACCCCCACAGCGGCcagcacc	0.657													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16221	0.0		0.0	False		,,,				2504	0.0					ENST00000328540.3																			0											c.(127-129)Gct>Act		BRICHOS domain containing 5		C	THR/ALA	3,4387		0,3,2192	20.0	25.0	23.0		127	-5.9	0.0	16		23	0,8588		0,0,4294	no	missense	C16orf79	NM_182563.3	58	0,3,6486	TT,TC,CC		0.0,0.0683,0.0231	benign	43/229	2260576	3,12975	2195	4294	6489	SO:0001583	missense	283870							g.chr16:2260576C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.127G>A	16.37:g.2260576C>T	ENSP00000455052:p.Ala43Thr					BRICD5_ENST00000562360.1_Missense_Mutation_p.A43T|BRICD5_ENST00000566018.1_Missense_Mutation_p.A43T	p.A43T	NM_182563.3	NP_872369.2					2	1243	-								C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.127G>A	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	C	4.026	0.002241	0.07819	6.83E-4	0.0	ENSG00000182685	ENST00000328540	T	0.22945	1.93	5.35	-5.95	0.02241	.	0.885835	0.09714	N	0.765325	T	0.10465	0.0256	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37572	-0.9700	10	0.17369	T	0.5	-0.4856	15.9675	0.79985	0.0:0.8122:0.0:0.1878	.	43;43	Q6PL45;Q6PL45-2	CP079_HUMAN;.	T	43	ENSP00000332389:A43T	ENSP00000332389:A43T	A	-	1	0	C16orf79	2200577	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.121000	0.03270	-1.474000	0.01879	-0.290000	0.09829	GCT		0.657	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		8	10	0	0	0	1	0	8	10				
DDB1	1642	broad.mit.edu	37	11	61070156	61070156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61070156C>T	ENST00000301764.7	-	24	3407	c.3010G>A	c.(3010-3012)Gtc>Atc	p.V1004I	DDB1_ENST00000451943.2_5'UTR|DDB1_ENST00000538470.1_Missense_Mutation_p.V51I|DDB1_ENST00000450997.2_Missense_Mutation_p.V315I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1004	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGACATTGACAAACTCGCCC	0.562								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3010-3012)Gtc>Atc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							123.0	126.0	125.0					11																	61070156		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070156C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3010G>A	11.37:g.61070156C>T	ENSP00000301764:p.Val1004Ile					DDB1_ENST00000450997.2_Missense_Mutation_p.V315I|DDB1_ENST00000538470.1_Missense_Mutation_p.V51I|DDB1_ENST00000451943.2_5'UTR	p.V1004I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			24	3407	-			1004			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3010G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872307	0.51695	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000538470;ENST00000539332	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.03	4.1	0.47936	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.063133	0.64402	D	0.000007	T	0.33876	0.0878	N	0.20445	0.575	0.80722	D	1	B;B	0.19935	0.04;0.001	B;B	0.29353	0.101;0.052	T	0.10823	-1.0613	10	0.20046	T	0.44	-25.9587	13.6654	0.62391	0.0:0.9238:0.0:0.0762	.	315;1004	B4DG00;Q16531	.;DDB1_HUMAN	I	1004;315;51;170	ENSP00000301764:V1004I;ENSP00000388705:V315I;ENSP00000441522:V51I;ENSP00000439787:V170I	ENSP00000301764:V1004I	V	-	1	0	DDB1	60826732	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.038000	0.70964	2.336000	0.79503	0.561000	0.74099	GTC		0.562	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		10	121	0	0	0	1	0	10	121				
SYNE1	23345	broad.mit.edu	37	6	152737985	152737985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152737985G>A	ENST00000367255.5	-	41	6188	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W	SYNE1_ENST00000265368.4_Missense_Mutation_p.R1863W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1900W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1870W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1870W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1863					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAAGCTGCCGCCTCTCCACA	0.602										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5587-5589)Cgg>Tgg		spectrin repeat containing, nuclear envelope 1							69.0	70.0	70.0					6																	152737985		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737985G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5587C>T	6.37:g.152737985G>A	ENSP00000356224:p.Arg1863Trp	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.R1900W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1863W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1870W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1870W	p.R1863W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6188	-		Ovarian(120;0.0955)	1863					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5587C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868994	0.51588	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	6.16	0.347	0.16022	.	0.000000	0.64402	D	0.000010	T	0.55162	0.1903	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.981;0.987;0.987;0.964	T	0.64533	-0.6385	10	0.56958	D	0.05	.	17.5916	0.87998	0.0:0.0:0.3185:0.6815	.	1846;1863;1863;1870	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	W	1863;1870;1863;1870;1900	ENSP00000356224:R1863W;ENSP00000396024:R1870W;ENSP00000265368:R1863W;ENSP00000390975:R1870W;ENSP00000341887:R1900W	ENSP00000265368:R1863W	R	-	1	2	SYNE1	152779678	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	1.640000	0.37186	0.098000	0.17522	-0.284000	0.09977	CGG		0.602	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	62	0	0	0	1	0	7	62				
SHANK2	22941	broad.mit.edu	37	11	70332022	70332022	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70332022G>T	ENST00000423696.2	-	15	3275	c.3239C>A	c.(3238-3240)tCt>tAt	p.S1080Y	SHANK2_ENST00000409161.1_Missense_Mutation_p.S863Y|SHANK2_ENST00000338508.4_Missense_Mutation_p.S1460Y|SHANK2_ENST00000449833.2_Missense_Mutation_p.S864Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1080					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTGTCTGCAGAGTTGGTTGG	0.572																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4378-4380)tCt>tAt		SH3 and multiple ankyrin repeat domains 2							66.0	66.0	66.0					11																	70332022		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332022G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3239C>A	11.37:g.70332022G>T	ENSP00000394536:p.Ser1080Tyr					SHANK2_ENST00000423696.2_Missense_Mutation_p.S1080Y|SHANK2_ENST00000449833.2_Missense_Mutation_p.S864Y|SHANK2_ENST00000409161.1_Missense_Mutation_p.S863Y	p.S1460Y			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4378	-			1080			SAM.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4379C>A		.	.	.	.	.	.	.	.	.	.	G	13.81	2.347016	0.41599	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42131	2.26;2.24;2.94;0.98;2.4;2.4	5.66	3.79	0.43588	.	0.563435	0.21902	N	0.067436	T	0.42040	0.1185	L	0.60455	1.87	0.80722	D	1	P;P;P	0.42757	0.579;0.789;0.704	B;B;B	0.42138	0.149;0.377;0.377	T	0.35450	-0.9788	10	0.66056	D	0.02	.	11.1103	0.48228	0.0695:0.1364:0.794:0.0	.	1080;1459;864	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Y	864;863;738;1460;1080;1098;1083	ENSP00000399423:S864Y;ENSP00000386491:S863Y;ENSP00000402944:S738Y;ENSP00000345193:S1460Y;ENSP00000394536:S1080Y;ENSP00000294018:S1083Y	ENSP00000294018:S1083Y	S	-	2	0	SHANK2	70009670	0.996000	0.38824	0.001000	0.08648	0.998000	0.95712	2.090000	0.41682	0.738000	0.32606	0.655000	0.94253	TCT		0.572	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	69	1	0	0.00909568	1	0.00947522	4	69				
ADAMTS3	9508	broad.mit.edu	37	4	73179425	73179425	+	Missense_Mutation	SNP	G	G	A	rs150168072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73179425G>A	ENST00000286657.4	-	12	1750	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	572	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTGAAACGAACACCAGTT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17578	0.0		0.0	False		,,,				2504	0.0				NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1714-1716)Cgt>Tgt		ADAM metallopeptidase with thrombospondin type 1 motif, 3		G	CYS/ARG	0,4406		0,0,2203	122.0	94.0	103.0		1714	6.0	1.0	4	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ADAMTS3	NM_014243.2	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	572/1206	73179425	2,13004	2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73179425G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1714C>T	4.37:g.73179425G>A	ENSP00000286657:p.Arg572Cys						p.R572C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1750	-			572			TSP type-1 1.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1714C>T	CCDS3553.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.309946	0.95629	0.0	2.33E-4	ENSG00000156140	ENST00000286657	T	0.58210	0.35	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84946	0.0868	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	572	O15072	ATS3_HUMAN	C	572	ENSP00000286657:R572C	ENSP00000286657:R572C	R	-	1	0	ADAMTS3	73398289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.857000	0.98124	0.650000	0.86243	CGT		0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			19	29	0	0	0	1	0	19	29				
ALG3	10195	broad.mit.edu	37	3	183961690	183961690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183961690A>G	ENST00000397676.3	-	6	851	c.821T>C	c.(820-822)gTg>gCg	p.V274A	ALG3_ENST00000455059.1_Missense_Mutation_p.V234A|ALG3_ENST00000445626.2_Missense_Mutation_p.V226A|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000418734.2_Missense_Mutation_p.V218A|MIR1224_ENST00000408193.1_RNA|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	274					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGCCAGTTCACTGTCCAGTG	0.637																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(700-702)gTg>gCg		ALG3, alpha-1,3- mannosyltransferase							37.0	45.0	42.0					3																	183961690		2010	4169	6179	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183961690A>G	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.821T>C	3.37:g.183961690A>G	ENSP00000380793:p.Val274Ala					ALG3_ENST00000463495.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.V218A|ALG3_ENST00000445626.2_Missense_Mutation_p.V226A|ALG3_ENST00000397676.3_Missense_Mutation_p.V274A	p.V234A			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1155	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		274					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.701T>C	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967915	0.92855	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.58	5.58	0.84498	.	0.000000	0.64402	U	0.000001	D	0.96731	0.8933	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.99;0.994;0.999;0.996	D	0.97855	1.0277	10	0.87932	D	0	-8.7486	14.9246	0.70866	1.0:0.0:0.0:0.0	.	226;218;234;274	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	A	218;274;226;234	ENSP00000402976:V218A;ENSP00000380793:V274A;ENSP00000402744:V226A;ENSP00000397613:V234A	ENSP00000380793:V274A	V	-	2	0	ALG3	185444384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.126000	0.65437	0.454000	0.30748	GTG		0.637	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		7	30	0	0	0	1	0	7	30				
EFCAB6	64800	broad.mit.edu	37	22	43926799	43926799	+	Missense_Mutation	SNP	G	G	A	rs144891068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43926799G>A	ENST00000262726.7	-	31	4532	c.4279C>T	c.(4279-4281)Cgt>Tgt	p.R1427C	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1275C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1427	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCTGAATACGCAGCAGAGCA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18594	0.0		0.0	False		,,,				2504	0.001					ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(4279-4281)Cgt>Tgt		EF-hand calcium binding domain 6		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	69.0	71.0		4279,3823	3.5	0.9	22	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense	EFCAB6	NM_022785.3,NM_198856.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1427/1502,1275/1350	43926799	1,13005	2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43926799G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4279C>T	22.37:g.43926799G>A	ENSP00000262726:p.Arg1427Cys					EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1275C	p.R1427C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			31	4532	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1427			Interaction with AR.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.4279C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512761	0.44660	2.27E-4	0.0	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.18657	2.2;2.21	4.56	3.48	0.39840	.	0.000000	0.64402	D	0.000001	T	0.38241	0.1033	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10776	-1.0615	10	0.62326	D	0.03	-18.6361	9.4406	0.38666	0.0:0.0:0.6854:0.3146	.	1427	Q5THR3	EFCB6_HUMAN	C	1275;1427	ENSP00000379533:R1275C;ENSP00000262726:R1427C	ENSP00000262726:R1427C	R	-	1	0	EFCAB6	42258132	0.964000	0.33143	0.887000	0.34795	0.108000	0.19459	1.794000	0.38774	2.352000	0.79861	0.655000	0.94253	CGT		0.542	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		23	30	0	0	0	1	0	23	30				
GAPVD1	26130	broad.mit.edu	37	9	128124975	128124975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128124975C>T	ENST00000495955.1	+	28	4677	c.4387C>T	c.(4387-4389)Cag>Tag	p.Q1463*	GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.Q1397*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.Q1445*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.Q1424*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.Q1463*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.Q1437*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.Q1418*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.Q1472*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1463	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGGTGGATGCAGTTCACAGC	0.458																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(4252-4254)Cag>Tag		GTPase activating protein and VPS9 domains 1							136.0	122.0	127.0					9																	128124975		2203	4300	6503	SO:0001587	stop_gained	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128124975C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4387C>T	9.37:g.128124975C>T	ENSP00000419063:p.Gln1463*					GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.Q1472*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.Q1437*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.Q1424*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.Q1397*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.Q1445*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.Q1463*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.Q1463*	p.Q1418*			Q14C86	GAPD1_HUMAN			25	4412	+			1463			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37	c.4252C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.515517	0.99419	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.68	0.91544	0.0:1.0:0.0:0.0	.	.	.	.	X	1418;1472;1463;1437;1397;1463;1445;1424;156	.	ENSP00000265956:Q1437X	Q	+	1	0	GAPVD1	127164796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.704000	0.92352	0.655000	0.94253	CAG		0.458	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			34	38	0	0	0	1	0	34	38				
DYNC1LI2	1783	broad.mit.edu	37	16	66757651	66757651	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66757651T>C	ENST00000258198.2	-	13	1659	c.1453A>G	c.(1453-1455)Aac>Gac	p.N485D	RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.N408D|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	485					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTTGAAGAGTTTGTTACCATA	0.353																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(1453-1455)Aac>Gac		dynein, cytoplasmic 1, light intermediate chain 2							164.0	144.0	151.0					16																	66757651		2201	4300	6501	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66757651T>C	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1453A>G	16.37:g.66757651T>C	ENSP00000258198:p.Asn485Asp					DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.N408D|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	p.N485D	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	13	1659	-		Ovarian(137;0.0563)	485					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.1453A>G	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945600	0.53079	.	.	ENSG00000135720	ENST00000258198;ENST00000443351	T;T	0.17528	2.27;2.27	5.41	5.41	0.78517	.	0.350015	0.33772	N	0.004563	T	0.12433	0.0302	L	0.36672	1.1	0.80722	D	1	P;B	0.35124	0.485;0.074	B;B	0.33295	0.161;0.079	T	0.11324	-1.0592	10	0.12430	T	0.62	-13.1058	10.9057	0.47078	0.0:0.0734:0.0:0.9266	.	408;485	B4DZP4;O43237	.;DC1L2_HUMAN	D	485;408	ENSP00000258198:N485D;ENSP00000394289:N408D	ENSP00000258198:N485D	N	-	1	0	DYNC1LI2	65315152	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.270000	0.78493	2.177000	0.69029	0.496000	0.49642	AAC		0.353	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		11	39	0	0	0	1	0	11	39				
OSBPL1A	114876	broad.mit.edu	37	18	21739839	21739839	+	IGR	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21739839T>C	ENST00000319481.3	-	0	4195				CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Silent_p.A315A|CABYR_ENST00000327201.6_Silent_p.A217A|CABYR_ENST00000399496.3_Silent_p.A315A|CABYR_ENST00000581397.1_Silent_p.A315A|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCCAGAATGCTAATCCTCCAA	0.438																																						ENST00000399496.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(943-945)gcT>gcC		calcium binding tyrosine-(Y)-phosphorylation regulated							145.0	143.0	144.0					18																	21739839		2203	4300	6503	SO:0001628	intergenic_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21739839T>C	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739839T>C						CABYR_ENST00000581397.1_Silent_p.A315A|CABYR_ENST00000399499.1_Silent_p.A315A|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Silent_p.A217A|RP11-799B12.4_ENST00000583267.1_lincRNA	p.A315A	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN			5	1110	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		0					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.945T>C	CCDS11884.1																																																																																				0.438	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		8	136	0	0	0	1	0	8	136				
OR11H6	122748	broad.mit.edu	37	14	20692852	20692852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20692852C>T	ENST00000315519.2	+	1	1062	c.984C>T	c.(982-984)agC>agT	p.S328S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TAACAGTTAGCCAAAACTGAG	0.368																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(982-984)agC>agT		olfactory receptor, family 11, subfamily H, member 6							64.0	70.0	68.0					14																	20692852		2195	4291	6486	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692852C>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.984C>T	14.37:g.20692852C>T							p.S328S	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	1062	+	all_cancers(95;0.00108)		328					Q6IF08	Silent	SNP	ENST00000315519.2	37	c.984C>T	CCDS32033.1																																																																																				0.368	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			32	58	0	0	0	1	0	32	58				
AFM	173	broad.mit.edu	37	4	74351700	74351700	+	Missense_Mutation	SNP	C	C	A	rs149614377		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74351700C>A	ENST00000226355.3	+	4	485	c.392C>A	c.(391-393)tCt>tAt	p.S131Y		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	131	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAAGAAATCTGATGTGGGA	0.413																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(391-393)tCt>tAt		afamin		C	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	103.0	104.0	104.0		392	0.9	0.3	4	dbSNP_134	104	0,8600		0,0,4300	no	missense	AFM	NM_001133.2	144	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	131/600	74351700	1,13005	2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74351700C>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.392C>A	4.37:g.74351700C>A	ENSP00000226355:p.Ser131Tyr						p.S131Y	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	485	+	Breast(15;0.00102)		131			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.392C>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767868	0.31320	2.27E-4	0.0	ENSG00000079557	ENST00000226355	T	0.44482	0.92	4.86	0.874	0.19124	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.710996	0.13300	N	0.398309	T	0.27454	0.0674	L	0.34521	1.04	0.09310	N	1	P	0.49447	0.924	B	0.41440	0.357	T	0.16660	-1.0395	10	0.72032	D	0.01	.	3.267	0.06869	0.1702:0.4049:0.3309:0.0941	.	131	P43652	AFAM_HUMAN	Y	131	ENSP00000226355:S131Y	ENSP00000226355:S131Y	S	+	2	0	AFM	74570564	0.009000	0.17119	0.275000	0.24674	0.591000	0.36615	0.463000	0.21972	0.148000	0.19059	-0.293000	0.09583	TCT		0.413	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			37	44	1	0	2.32173e-10	1	2.85835e-10	37	44				
PSRC1	84722	broad.mit.edu	37	1	109823528	109823528	+	Nonsense_Mutation	SNP	G	G	A	rs200443495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109823528G>A	ENST00000438534.2	-	5	1003	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PSRC1_ENST00000369907.3_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369904.3_Missense_Mutation_p.P225L|PSRC1_ENST00000409267.1_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369909.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369903.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000409138.2_Nonsense_Mutation_p.R289*	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	289	Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGTGGCATTCGGCTGGCAGGC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15932	0.0		0.0	False		,,,				2504	0.0					ENST00000438534.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(865-867)Cga>Tga		proline/serine-rich coiled-coil 1							41.0	44.0	43.0					1																	109823528		2203	4300	6503	SO:0001587	stop_gained	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109823528G>A		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.865C>T	1.37:g.109823528G>A	ENSP00000413591:p.Arg289*					PSRC1_ENST00000369903.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369904.3_Missense_Mutation_p.P225L|PSRC1_ENST00000369907.3_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369909.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000409267.1_Nonsense_Mutation_p.R259*|PSRC1_ENST00000409138.2_Nonsense_Mutation_p.R289*	p.R289*	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	5	1003	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	289			Pro/Ser-rich.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Nonsense_Mutation	SNP	ENST00000438534.2	37	c.865C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	36|36	5.691740|5.691740	0.96793|0.96793	.|.	.|.	ENSG00000134222|ENSG00000134222	ENST00000369904|ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903	.|.	.|.	.|.	6.17|6.17	4.29|4.29	0.51040|0.51040	.|.	.|0.427962	.|0.21457	.|N	.|0.074224	T|.	0.06005|.	0.0156|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	B|.	0.31125|.	0.309|.	B|.	0.23852|.	0.049|.	T|.	0.24261|.	-1.0165|.	6|.	0.87932|0.02654	D|T	0|1	0.2493|0.2493	6.9515|6.9515	0.24548|0.24548	0.0855:0.0:0.7282:0.1864|0.0855:0.0:0.7282:0.1864	.|.	225|.	Q6PGN9-3|.	.|.	L|X	225|259;259;289;259;259	.|.	ENSP00000358920:P225L|ENSP00000358919:R259X	P|R	-|-	2|1	0|2	PSRC1|PSRC1	109625051|109625051	0.652000|0.652000	0.27349|0.27349	0.995000|0.995000	0.50966|0.50966	0.907000|0.907000	0.53573|0.53573	1.106000|1.106000	0.31098|0.31098	1.594000|1.594000	0.50039|0.50039	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.612	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		38	22	0	0	0	1	0	38	22				
FRK	2444	broad.mit.edu	37	6	116277640	116277640	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116277640A>G	ENST00000606080.1	-	5	1379	c.933T>C	c.(931-933)caT>caC	p.H311H	FRK_ENST00000538210.1_Silent_p.H169H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GCAGACTTCCATGTCTCATCA	0.333																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(931-933)caT>caC		fyn-related kinase							94.0	99.0	97.0					6																	116277640		2203	4300	6503	SO:0001819	synonymous_variant	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116277640A>G	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.933T>C	6.37:g.116277640A>G						FRK_ENST00000538210.1_Silent_p.H169H	p.H311H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	5	1379	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	311			Protein kinase.		B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	c.933T>C	CCDS5103.1																																																																																				0.333	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		5	80	0	0	0	1	0	5	80				
SSPO	23145	broad.mit.edu	37	7	149508800	149508800	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149508800C>T	ENST00000378016.2	+	0	9539							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCTTGTGCGGAGGGTAAG	0.642																																						ENST00000378016.2																			0													SCO-spondin							92.0	99.0	96.0					7																	149508800		2128	4241	6369			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149508800C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508800C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9539	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				49	37	0	0	0	1	0	49	37				
GPR112	139378	broad.mit.edu	37	X	135427530	135427530	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135427530G>T	ENST00000394143.1	+	6	1956	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N	GPR112_ENST00000394141.1_Missense_Mutation_p.K350N|GPR112_ENST00000287534.4_Missense_Mutation_p.K492N|GPR112_ENST00000370652.1_Missense_Mutation_p.K555N|GPR112_ENST00000412101.1_Missense_Mutation_p.K350N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	555					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTCCTCTAAGACCTTTTCTT	0.408																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(1663-1665)aaG>aaT		G protein-coupled receptor 112							82.0	76.0	78.0					X																	135427530		2202	4299	6501	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427530G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1665G>T	X.37:g.135427530G>T	ENSP00000377699:p.Lys555Asn					GPR112_ENST00000412101.1_Missense_Mutation_p.K350N|GPR112_ENST00000370652.1_Missense_Mutation_p.K555N|GPR112_ENST00000287534.4_Missense_Mutation_p.K492N|GPR112_ENST00000394141.1_Missense_Mutation_p.K350N	p.K555N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1956	+	Acute lymphoblastic leukemia(192;0.000127)		555					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.1665G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	9.295	1.051706	0.19827	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.58;1.58;1.55;1.69;1.55	3.42	1.53	0.23141	.	.	.	.	.	T	0.13586	0.0329	N	0.14661	0.345	0.09310	N	1	P;P;P	0.40144	0.704;0.454;0.539	B;B;B	0.32624	0.149;0.091;0.062	T	0.13415	-1.0510	9	0.59425	D	0.04	.	3.5146	0.07721	0.1568:0.2673:0.5759:0.0	.	492;350;555	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	555;555;350;492;350	ENSP00000377699:K555N;ENSP00000359686:K555N;ENSP00000416526:K350N;ENSP00000287534:K492N;ENSP00000377697:K350N	ENSP00000287534:K492N	K	+	3	2	GPR112	135255196	0.001000	0.12720	0.012000	0.15200	0.014000	0.08584	0.734000	0.26101	0.549000	0.28973	0.411000	0.27672	AAG		0.408	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			25	46	1	0	4.72057e-08	1	5.61655e-08	25	46				
FBN1	2200	broad.mit.edu	37	15	48714159	48714159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48714159C>T	ENST00000316623.5	-	61	8015	c.7560G>A	c.(7558-7560)acG>acA	p.T2520T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2520	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAATGCAGGACGTATGGTGTT	0.428																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7558-7560)acG>acA		fibrillin 1							104.0	90.0	95.0					15																	48714159		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48714159C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7560G>A	15.37:g.48714159C>T							p.T2520T	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	61	8015	-		all_lung(180;0.00279)	2520			EGF-like 43; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.7560G>A	CCDS32232.1																																																																																				0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			13	36	0	0	0	1	0	13	36				
PALM	5064	broad.mit.edu	37	19	746643	746643	+	Silent	SNP	C	C	T	rs192972883		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:746643C>T	ENST00000338448.5	+	9	1039	c.993C>T	c.(991-993)atC>atT	p.I331I	PALM_ENST00000264560.7_Silent_p.I287I|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	331					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TGGTGGTCATCGAAGACGCGG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		10971	0.001		0.0	False		,,,				2504	0.0					ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(859-861)atC>atT		paralemmin		C	,	1,4401	2.1+/-5.4	0,1,2200	36.0	29.0	31.0		861,993	-2.3	0.8	19		31	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PALM	NM_001040134.1,NM_002579.2	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	287/344,331/388	746643	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746643C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.993C>T	19.37:g.746643C>T						PALM_ENST00000338448.5_Silent_p.I331I|PALM_ENST00000606643.1_3'UTR	p.I287I	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1055	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	331					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	c.861C>T	CCDS32857.1																																																																																				0.627	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		8	10	0	0	0	1	0	8	10				
ASH2L	9070	broad.mit.edu	37	8	37967910	37967910	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37967910T>C	ENST00000343823.6	+	4	724	c.415T>C	c.(415-417)Ttc>Ctc	p.F139L	ASH2L_ENST00000521652.1_Missense_Mutation_p.F45L|ASH2L_ENST00000428278.2_Missense_Mutation_p.F45L|ASH2L_ENST00000250635.7_Missense_Mutation_p.F45L|ASH2L_ENST00000545394.1_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	139	DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.F139L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTGTCTACCTTTCATGACCAA	0.408																																						ENST00000343823.6																			1	Substitution - Missense(1)	p.F139L(1)	endometrium(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(415-417)Ttc>Ctc		ash2 (absent, small, or homeotic)-like (Drosophila)							139.0	119.0	126.0					8																	37967910		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37967910T>C	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.415T>C	8.37:g.37967910T>C	ENSP00000340896:p.Phe139Leu					ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000250635.7_Missense_Mutation_p.F45L|ASH2L_ENST00000428278.2_Missense_Mutation_p.F45L|ASH2L_ENST00000521652.1_Missense_Mutation_p.F45L	p.F139L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			4	724	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	139					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.415T>C	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	T	35	5.469732	0.96274	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000517719;ENST00000428278;ENST00000521652	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79784	0.993;0.965	T	0.58047	-0.7705	10	0.72032	D	0.01	.	15.8223	0.78667	0.0:0.0:0.0:1.0	.	45;139	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	L	139;45;153;45;45	ENSP00000340896:F139L;ENSP00000250635:F45L;ENSP00000428877:F153L;ENSP00000395310:F45L;ENSP00000430259:F45L	ENSP00000250635:F45L	F	+	1	0	ASH2L	38087067	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.803000	0.85983	2.188000	0.69820	0.528000	0.53228	TTC		0.408	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		10	74	0	0	0	1	0	10	74				
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	C	T	rs369236488		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		16742	0.001		0.0	False		,,,				2504	0.0					ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(1039-1041)ccG>ccA		mohawk homeobox		C	,	3,4403	6.2+/-15.9	0,3,2200	172.0	151.0	158.0		1041,1041	-11.2	0.0	10		158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKX	NM_001242702.1,NM_173576.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	347/353,347/353	27964176	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964176C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.1041G>A	10.37:g.27964176C>T						MKX_ENST00000419761.1_Silent_p.P347P	p.P347P			Q8IYA7	MKX_HUMAN			7	1473	-			347					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.1041G>A	CCDS7156.1																																																																																				0.463	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		32	48	0	0	0	1	0	32	48				
MARC2	54996	broad.mit.edu	37	1	220928369	220928369	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220928369A>G	ENST00000366913.3	+	2	551	c.353A>G	c.(352-354)tAt>tGt	p.Y118C	MARC2_ENST00000359316.2_Missense_Mutation_p.Y118C	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	118					detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										TCCATCATTTATGAGAATAAC	0.512																																						ENST00000366913.3																			0											c.(352-354)tAt>tGt		mitochondrial amidoxime reducing component 2							166.0	157.0	160.0					1																	220928369		2203	4300	6503	SO:0001583	missense	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220928369A>G		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.353A>G	1.37:g.220928369A>G	ENSP00000355880:p.Tyr118Cys					MARC2_ENST00000359316.2_Missense_Mutation_p.Y118C	p.Y118C	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN			2	551	+			118					B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	c.353A>G	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	A	0.166	-1.076051	0.01903	.	.	ENSG00000117791	ENST00000359316;ENST00000366913;ENST00000425560	T;T;T	0.31247	1.5;1.5;1.5	5.29	-2.12	0.07165	MOSC, N-terminal beta barrel (1);Pyruvate kinase-like, insert domain (1);	0.798663	0.11505	N	0.557329	T	0.06962	0.0177	N	0.01257	-0.925	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.31530	-0.9940	10	0.15499	T	0.54	-22.588	0.1238	0.00067	0.3117:0.244:0.1907:0.2536	.	118;118	Q969Z3-2;Q969Z3	.;MOSC2_HUMAN	C	118;118;19	ENSP00000352266:Y118C;ENSP00000355880:Y118C;ENSP00000416442:Y19C	ENSP00000352266:Y118C	Y	+	2	0	MOSC2	218994992	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	0.842000	0.27627	-0.294000	0.08973	0.460000	0.39030	TAT		0.512	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		9	132	0	0	0	1	0	9	132				
OR9A4	130075	broad.mit.edu	37	7	141618741	141618741	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141618741A>G	ENST00000548136.1	+	1	125	c.66A>G	c.(64-66)ctA>ctG	p.L22L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGAAGAACTACATCATATCC	0.378																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(64-66)ctA>ctG		olfactory receptor, family 9, subfamily A, member 4							238.0	246.0	243.0					7																	141618741		2162	4285	6447	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618741A>G		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.66A>G	7.37:g.141618741A>G						MGAM_ENST00000497554.1_Intron	p.L22L	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	125	+	Melanoma(164;0.0171)		22					B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.66A>G	CCDS43661.1																																																																																				0.378	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		5	326	0	0	0	1	0	5	326				
LPA	4018	broad.mit.edu	37	6	161027655	161027655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161027655G>T	ENST00000316300.5	-	17	2683	c.2639C>A	c.(2638-2640)cCt>cAt	p.P880H	LPA_ENST00000447678.1_Missense_Mutation_p.P880H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3388	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTGCCACAGGATCTGGATT	0.537																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2638-2640)cCt>cAt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						126.0	130.0	129.0					6																	161027655		2106	4275	6381	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027655G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2639C>A	6.37:g.161027655G>T	ENSP00000321334:p.Pro880His					LPA_ENST00000316300.5_Missense_Mutation_p.P880H	p.P880H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2759	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3388			Kringle 8.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2639C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	5.380	0.255422	0.10185	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62105	0.05;0.05	2.18	-4.36	0.03645	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	T	0.42404	0.1201	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42361	-0.9456	9	0.72032	D	0.01	.	5.9659	0.19325	0.0:0.4815:0.1984:0.3201	.	3388	P08519	APOA_HUMAN	H	880	ENSP00000321334:P880H;ENSP00000395608:P880H	ENSP00000321334:P880H	P	-	2	0	LPA	160947645	0.000000	0.05858	0.006000	0.13384	0.481000	0.33189	-3.503000	0.00449	-1.523000	0.01767	0.184000	0.17185	CCT		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		56	72	1	0	1.80625e-27	1	2.41067e-27	56	72				
DOK4	55715	broad.mit.edu	37	16	57509501	57509501	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57509501G>A	ENST00000340099.4	-	4	577	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DOK4_ENST00000569548.1_Missense_Mutation_p.T69M|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000566936.1_Missense_Mutation_p.T69M	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	69	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GGGGAGCCGCGTAACACACTT	0.572																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(205-207)aCg>aTg		docking protein 4							73.0	60.0	64.0					16																	57509501		2198	4300	6498	SO:0001583	missense	0						insulin receptor binding	g.chr16:57509501G>A	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.206C>T	16.37:g.57509501G>A	ENSP00000344277:p.Thr69Met					DOK4_ENST00000340099.4_Missense_Mutation_p.T69M|DOK4_ENST00000569548.1_Missense_Mutation_p.T69M|DOK4_ENST00000561918.1_5'UTR	p.T69M			Q8TEW6	DOK4_HUMAN			3	503	-			69			PH.		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.206C>T	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115800	0.77323	.	.	ENSG00000125170	ENST00000340099	T	0.76839	-1.05	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.057552	0.64402	D	0.000002	T	0.69333	0.3099	L	0.29908	0.895	0.48185	D	0.9996	P;D	0.65815	0.955;0.995	B;P	0.45310	0.427;0.476	T	0.71424	-0.4597	10	0.48119	T	0.1	-17.5009	11.5089	0.50483	0.0824:0.0:0.9176:0.0	.	69;69	Q8TEW6;B2RD67	DOK4_HUMAN;.	M	69	ENSP00000344277:T69M	ENSP00000344277:T69M	T	-	2	0	DOK4	56067002	1.000000	0.71417	0.955000	0.39395	0.971000	0.66376	3.939000	0.56591	2.602000	0.87976	0.650000	0.86243	ACG		0.572	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			5	7	0	0	0	1	0	5	7				
TBC1D9	23158	broad.mit.edu	37	4	141600336	141600336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141600336A>G	ENST00000442267.2	-	5	685	c.611T>C	c.(610-612)gTa>gCa	p.V204A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	204	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGTGATGTCTACCCACCGGAT	0.488																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(610-612)gTa>gCa		TBC1 domain family, member 9 (with GRAM domain)							122.0	118.0	119.0					4																	141600336		2045	4210	6255	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600336A>G	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.611T>C	4.37:g.141600336A>G	ENSP00000411197:p.Val204Ala						p.V204A	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			5	685	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	204			GRAM 1.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.611T>C	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.932889	0.34096	.	.	ENSG00000109436	ENST00000442267	D	0.86030	-2.06	5.46	5.46	0.80206	GRAM (2);	0.057560	0.64402	D	0.000001	T	0.70020	0.3176	N	0.10782	0.045	0.52501	D	0.999951	B	0.02656	0.0	B	0.11329	0.006	T	0.66040	-0.6022	10	0.05351	T	0.99	-9.8053	15.5369	0.76011	1.0:0.0:0.0:0.0	.	204	Q6ZT07	TBCD9_HUMAN	A	204	ENSP00000411197:V204A	ENSP00000411197:V204A	V	-	2	0	TBC1D9	141819786	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.423000	0.80229	2.087000	0.62958	0.459000	0.35465	GTA		0.488	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		38	54	0	0	0	1	0	38	54				
FLG	2312	broad.mit.edu	37	1	152281063	152281063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152281063G>T	ENST00000368799.1	-	3	6334	c.6299C>A	c.(6298-6300)tCt>tAt	p.S2100Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2100	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGGACTCAGACTGTTCATG	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6298-6300)tCt>tAt		filaggrin							304.0	230.0	255.0					1																	152281063		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281063G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6299C>A	1.37:g.152281063G>T	ENSP00000357789:p.Ser2100Tyr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2100Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6334	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2100			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6299C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.735	0.136754	0.09032	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	2.95	-2.12	0.07165	.	.	.	.	.	T	0.01940	0.0061	M	0.77820	2.39	0.09310	N	1	P	0.50528	0.936	B	0.39590	0.304	T	0.31668	-0.9935	9	0.87932	D	0	.	1.2025	0.01888	0.1314:0.1823:0.316:0.3704	.	2100	P20930	FILA_HUMAN	Y	2100	ENSP00000357789:S2100Y	ENSP00000357789:S2100Y	S	-	2	0	FLG	150547687	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.011000	0.12721	-0.400000	0.07656	0.485000	0.47835	TCT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		21	223	1	0	4.96729e-08	1	5.9048e-08	21	223				
ESCO2	157570	broad.mit.edu	37	8	27657152	27657152	+	Missense_Mutation	SNP	C	C	T	rs144956719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27657152C>T	ENST00000305188.8	+	10	1830	c.1592C>T	c.(1591-1593)gCa>gTa	p.A531V	ESCO2_ENST00000397418.2_Missense_Mutation_p.A179V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	531					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CCAGAACCTGCAGTCTGTGGG	0.463									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1591-1593)gCa>gTa		establishment of sister chromatid cohesion N-acetyltransferase 2		C	VAL/ALA	0,4406		0,0,2203	155.0	148.0	151.0		1592	6.2	1.0	8	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense	ESCO2	NM_001017420.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	531/602	27657152	1,13005	2203	4300	6503	SO:0001583	missense	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27657152C>T	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1592C>T	8.37:g.27657152C>T	ENSP00000306999:p.Ala531Val					ESCO2_ENST00000397418.2_Missense_Mutation_p.A179V	p.A531V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	10	1830	+		Ovarian(32;0.000953)	531					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.1592C>T	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663298	0.96745	0.0	1.16E-4	ENSG00000171320	ENST00000305188;ENST00000397418	D;D	0.85258	-1.96;-1.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90878	0.7134	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89542	0.3793	10	0.46703	T	0.11	-18.0496	18.3732	0.90420	0.0:1.0:0.0:0.0	.	531	Q56NI9	ESCO2_HUMAN	V	531;179	ENSP00000306999:A531V;ENSP00000380563:A179V	ENSP00000306999:A531V	A	+	2	0	ESCO2	27713071	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.401000	0.66326	2.941000	0.99782	0.655000	0.94253	GCA		0.463	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		50	88	0	0	0	1	0	50	88				
SLC28A3	64078	broad.mit.edu	37	9	86914578	86914578	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86914578A>G	ENST00000376238.4	-	6	636	c.587T>C	c.(586-588)tTg>tCg	p.L196S	SLC28A3_ENST00000537648.1_Missense_Mutation_p.L127S	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	196					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CTGTTGACCCAATTTGGCAGT	0.463																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(586-588)tTg>tCg		solute carrier family 28 (concentrative nucleoside transporter), member 3							130.0	121.0	124.0					9																	86914578		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86914578A>G	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.587T>C	9.37:g.86914578A>G	ENSP00000365413:p.Leu196Ser					SLC28A3_ENST00000537648.1_Missense_Mutation_p.L127S	p.L196S	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			6	636	-			196					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.587T>C	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	2.351	-0.348932	0.05208	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.01745	4.83;4.66	5.54	3.04	0.35103	.	0.589102	0.16868	N	0.196256	T	0.02230	0.0069	M	0.67953	2.075	0.32868	D	0.50885	B;B	0.20780	0.048;0.003	B;B	0.17979	0.02;0.013	T	0.16837	-1.0389	10	0.08179	T	0.78	-6.568	6.9799	0.24698	0.6928:0.116:0.0:0.1912	.	127;196	B4E2S8;Q9HAS3	.;S28A3_HUMAN	S	196;127	ENSP00000365413:L196S;ENSP00000446438:L127S	ENSP00000365413:L196S	L	-	2	0	SLC28A3	86104398	0.744000	0.28250	0.812000	0.32479	0.013000	0.08279	1.463000	0.35277	1.094000	0.41399	-0.316000	0.08728	TTG		0.463	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		4	91	0	0	0	1	0	4	91				
VPS13C	54832	broad.mit.edu	37	15	62254064	62254064	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62254064T>A	ENST00000261517.5	-	35	3705	c.3632A>T	c.(3631-3633)aAa>aTa	p.K1211I	VPS13C_ENST00000395896.4_Missense_Mutation_p.K1211I|VPS13C_ENST00000249837.3_Missense_Mutation_p.K1168I|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1168I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGAGACTCTTTGGCTGTCTG	0.418																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3631-3633)aAa>aTa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							46.0	49.0	48.0					15																	62254064		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62254064T>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3632A>T	15.37:g.62254064T>A	ENSP00000261517:p.Lys1211Ile					VPS13C_ENST00000395896.4_Missense_Mutation_p.K1211I|VPS13C_ENST00000249837.3_Missense_Mutation_p.K1168I|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1168I	p.K1211I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			35	3705	-			1211						Missense_Mutation	SNP	ENST00000261517.5	37	c.3632A>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.992445	0.93167	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46819	0.86;0.86;0.86	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	0.994;0.994;1.0;1.0	P;P;D;D	0.91635	0.896;0.896;0.992;0.999	T	0.77928	-0.2404	10	0.59425	D	0.04	.	15.8862	0.79251	0.0:0.0:0.0:1.0	.	1168;1211;1168;1211	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	1168;1211;1211;1211	ENSP00000249837:K1168I;ENSP00000261517:K1211I;ENSP00000379233:K1211I	ENSP00000249837:K1168I	K	-	2	0	VPS13C	60041356	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.975000	0.70475	2.140000	0.66376	0.460000	0.39030	AAA		0.418	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		4	57	0	0	0	1	0	4	57				
MRVI1	10335	broad.mit.edu	37	11	10597987	10597987	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10597987A>G	ENST00000436272.1	-	20	2628	c.2550T>C	c.(2548-2550)tcT>tcC	p.S850S	LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000547195.1_Silent_p.S786S|MRVI1_ENST00000545852.1_Silent_p.S562S|MRVI1_ENST00000552103.1_Silent_p.S786S|MRVI1_ENST00000527509.2_Silent_p.S786S|MRVI1_ENST00000534266.2_Silent_p.S562S|MRVI1_ENST00000558540.1_Silent_p.S562S|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Silent_p.S877S|MRVI1_ENST00000531107.1_Silent_p.S869S|MRVI1_ENST00000424001.1_Silent_p.S562S|MRVI1_ENST00000421747.1_Silent_p.S868S|MRVI1_ENST00000541483.1_Silent_p.S671S			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	850					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTCTGCACAAGAGTTATAGG	0.552																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(2356-2358)tcT>tcC		murine retrovirus integration site 1 homolog							104.0	105.0	105.0					11																	10597987		2053	4197	6250	SO:0001819	synonymous_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10597987A>G	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2550T>C	11.37:g.10597987A>G						LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Silent_p.S877S|MRVI1_ENST00000531107.1_Silent_p.S869S|MRVI1_ENST00000545852.1_Silent_p.S562S|MRVI1_ENST00000424001.1_Silent_p.S562S|MRVI1_ENST00000552103.1_Silent_p.S786S|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000421747.1_Silent_p.S868S|MRVI1_ENST00000558540.1_Silent_p.S562S|MRVI1_ENST00000436272.1_Silent_p.S850S|MRVI1_ENST00000534266.2_Silent_p.S562S|MRVI1_ENST00000527509.2_Silent_p.S786S|MRVI1_ENST00000541483.1_Silent_p.S671S	p.S786S	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	20	2858	-			850			Glu-rich.		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37	c.2358T>C																																																																																					0.552	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		34	40	0	0	0	1	0	34	40				
FZD7	8324	broad.mit.edu	37	2	202900121	202900121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900121C>T	ENST00000286201.1	+	1	812	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	251					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGAGGAGAGGCGCTTCGCCCG	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(751-753)Cgc>Tgc		frizzled family receptor 7							48.0	50.0	49.0					2																	202900121		2200	4299	6499	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900121C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.751C>T	2.37:g.202900121C>T	ENSP00000286201:p.Arg251Cys		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R251C	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	812	+			251					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.751C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783048	0.70222	.	.	ENSG00000155760	ENST00000286201	D	0.82619	-1.63	5.02	5.02	0.67125	.	0.063541	0.64402	D	0.000010	D	0.91274	0.7249	M	0.82323	2.585	0.58432	D	0.999998	D	0.89917	1.0	D	0.65140	0.932	D	0.92348	0.5887	10	0.72032	D	0.01	.	18.5304	0.90990	0.0:1.0:0.0:0.0	.	251	O75084	FZD7_HUMAN	C	251	ENSP00000286201:R251C	ENSP00000286201:R251C	R	+	1	0	FZD7	202608366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.652000	0.54439	2.607000	0.88179	0.563000	0.77884	CGC		0.657	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		33	34	0	0	0	1	0	33	34				
GRM1	2911	broad.mit.edu	37	6	146755570	146755570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146755570C>A	ENST00000282753.1	+	8	3458	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.L1075M|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1075	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCGCAGCACCTGCAGATGCT	0.692																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3223-3225)Ctg>Atg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						34.0	39.0	38.0					6																	146755570		2195	4293	6488	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755570C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3223C>A	6.37:g.146755570C>A	ENSP00000282753:p.Leu1075Met					GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.L1075M|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.L1075M	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3693	+		Ovarian(120;0.0387)	1075			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3223C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811675	0.32053	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.88124	-2.34;-2.34	5.71	5.71	0.89125	.	0.155423	0.45361	D	0.000379	T	0.74023	0.3662	L	0.43152	1.355	0.80722	D	1	B	0.28512	0.214	B	0.28305	0.088	T	0.73994	-0.3807	10	0.44086	T	0.13	.	9.1368	0.36879	0.1464:0.7778:0.0:0.0758	.	1075	Q13255	GRM1_HUMAN	M	1075	ENSP00000354896:L1075M;ENSP00000282753:L1075M	ENSP00000282753:L1075M	L	+	1	2	GRM1	146797263	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.579000	0.46059	2.700000	0.92200	0.462000	0.41574	CTG		0.692	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	51	1	0	0.014758	1	0.0152625	5	51				
ANK2	287	broad.mit.edu	37	4	114278095	114278095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114278095G>A	ENST00000357077.4	+	38	8374	c.8321G>A	c.(8320-8322)gGc>gAc	p.G2774D	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2741D|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2774					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTGTGATGGCCATGGATGT	0.488																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8320-8322)gGc>gAc		ankyrin 2, neuronal							79.0	71.0	74.0					4																	114278095		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278095G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8321G>A	4.37:g.114278095G>A	ENSP00000349588:p.Gly2774Asp					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2741D|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	p.G2774D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8374	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2741					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8321G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824324	0.32237	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67865	-0.28;-0.29	6.03	3.42	0.39159	.	0.674299	0.13902	N	0.354875	T	0.53302	0.1788	L	0.33485	1.01	0.22342	N	0.999188	B;B	0.12630	0.006;0.001	B;B	0.14578	0.011;0.006	T	0.36237	-0.9756	9	.	.	.	.	10.4064	0.44260	0.2023:0.0:0.7977:0.0	.	2741;2774	Q01484;Q01484-4	ANK2_HUMAN;.	D	2774;2741	ENSP00000349588:G2774D;ENSP00000264366:G2741D	.	G	+	2	0	ANK2	114497544	0.171000	0.23029	0.020000	0.16555	0.028000	0.11728	3.040000	0.49799	0.456000	0.26937	0.655000	0.94253	GGC		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	49	0	0	0	1	0	5	49				
ZNF317	57693	broad.mit.edu	37	19	9270912	9270912	+	Silent	SNP	C	C	T	rs144830860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9270912C>T	ENST00000247956.6	+	7	896	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ZNF317_ENST00000360385.3_Silent_p.R165R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ATCACCGCCGCGACTATGGGG	0.542																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(589-591)cgC>cgT		zinc finger protein 317		C	,	0,4406		0,0,2203	71.0	56.0	61.0		495,591	-6.7	0.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF317	NM_001190791.1,NM_020933.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	165/564,197/596	9270912	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9270912C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.591C>T	19.37:g.9270912C>T						ZNF317_ENST00000360385.3_Silent_p.R165R	p.R197R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	896	+			197					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	c.591C>T	CCDS12210.1																																																																																				0.542	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		8	16	0	0	0	1	0	8	16				
SHANK3	85358	broad.mit.edu	37	22	51160488	51160488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160488G>T	ENST00000414786.2	+	21	4412	c.4185G>T	c.(4183-4185)aaG>aaT	p.K1395N	SHANK3_ENST00000262795.3_Missense_Mutation_p.K1425N|SHANK3_ENST00000445220.2_Missense_Mutation_p.K1411N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1409					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TACTCGAGAAGCCACCAGTGC	0.622																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(4183-4185)aaG>aaT		SH3 and multiple ankyrin repeat domains 3							30.0	39.0	36.0					22																	51160488		2153	4230	6383	SO:0001583	missense	85358							g.chr22:51160488G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4185G>T	22.37:g.51160488G>T	ENSP00000464552:p.Lys1395Asn					SHANK3_ENST00000445220.2_Missense_Mutation_p.K1411N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1425N	p.K1395N			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	4412	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1425					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.4185G>T		.	.	.	.	.	.	.	.	.	.	G	17.93	3.508367	0.64410	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.22539	1.95;1.95	5.29	5.29	0.74685	.	0.049412	0.85682	D	0.000000	T	0.48768	0.1518	M	0.79258	2.445	0.39026	D	0.959836	D;D;D	0.71674	0.991;0.998;0.979	P;D;P	0.76071	0.831;0.987;0.702	T	0.54788	-0.8241	10	0.66056	D	0.02	.	16.4399	0.83896	0.0:0.0:1.0:0.0	.	1409;1410;1425	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	N	1425;1411	ENSP00000442518:K1425N;ENSP00000446078:K1411N	ENSP00000442518:K1425N	K	+	3	2	SHANK3	49507354	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.600000	0.67599	2.483000	0.83821	0.462000	0.41574	AAG		0.622	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		4	11	1	0	0.184627	1	0.186383	4	11				
PHRF1	57661	broad.mit.edu	37	11	607285	607285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:607285C>T	ENST00000264555.5	+	14	1957	c.1829C>T	c.(1828-1830)gCg>gTg	p.A610V	PHRF1_ENST00000416188.2_Missense_Mutation_p.A609V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A608V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A606V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	610					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCTGGGGCGGTTCAGGCT	0.667																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1828-1830)gCg>gTg		PHD and ring finger domains 1							60.0	66.0	64.0					11																	607285		1926	4122	6048	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607285C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1829C>T	11.37:g.607285C>T	ENSP00000264555:p.Ala610Val					PHRF1_ENST00000416188.2_Missense_Mutation_p.A609V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A606V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A608V	p.A610V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	1957	+			610					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1829C>T		.	.	.	.	.	.	.	.	.	.	C	7.972	0.749358	0.15710	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	4.14	3.23	0.37069	.	0.496604	0.15036	N	0.284152	T	0.81688	0.4875	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.68992	-0.5263	10	0.21540	T	0.41	-0.7592	8.7234	0.34454	0.0:0.825:0.0:0.175	.	606;608;609;610	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	610;608;609;606	ENSP00000264555:A610V;ENSP00000388589:A608V;ENSP00000410626:A609V;ENSP00000431870:A606V	ENSP00000264555:A610V	A	+	2	0	PHRF1	597285	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.873000	0.28052	0.962000	0.38057	0.462000	0.41574	GCG		0.667	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		36	45	0	0	0	1	0	36	45				
LRRC49	54839	broad.mit.edu	37	15	71272511	71272511	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71272511A>C	ENST00000260382.5	+	10	1253	c.993A>C	c.(991-993)caA>caC	p.Q331H	LRRC49_ENST00000443425.2_Missense_Mutation_p.Q287H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q321H|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q19H|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q37H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q336H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	331						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCATAAACAATCTTTGCTTA	0.403																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(991-993)caA>caC		leucine rich repeat containing 49							125.0	103.0	110.0					15																	71272511		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71272511A>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.993A>C	15.37:g.71272511A>C	ENSP00000260382:p.Gln331His					LRRC49_ENST00000560158.2_Missense_Mutation_p.Q19H|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q37H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q287H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q336H|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q321H	p.Q331H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			10	1253	+			331					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.993A>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.139055	0.56936	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.21361	2.01;2.01;2.01	4.78	-2.77	0.05877	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.56769	1.78	0.43863	D	0.99646	P;P;P;P;D	0.67145	0.777;0.858;0.594;0.777;0.996	B;P;P;B;P	0.62560	0.297;0.491;0.458;0.297;0.904	T	0.03354	-1.1045	10	0.62326	D	0.03	-11.0181	10.4764	0.44667	0.4796:0.0:0.5204:0.0	.	336;303;287;331;321	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	H	321;331;287;303	ENSP00000439600:Q321H;ENSP00000260382:Q331H;ENSP00000414065:Q287H	ENSP00000260382:Q331H	Q	+	3	2	LRRC49	69059565	0.116000	0.22171	0.382000	0.26119	0.968000	0.65278	-0.489000	0.06490	-0.733000	0.04850	0.374000	0.22700	CAA		0.403	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		20	22	0	0	0	1	0	20	22				
TRPM2	7226	broad.mit.edu	37	21	45784155	45784155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45784155A>G	ENST00000397928.1	+	3	858	c.413A>G	c.(412-414)aAg>aGg	p.K138R	TRPM2_ENST00000397932.2_Missense_Mutation_p.K138R|TRPM2_ENST00000300482.5_Missense_Mutation_p.K138R|TRPM2_ENST00000300481.9_Missense_Mutation_p.K138R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	138					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGAGCCAGAAGGTGAAAAAG	0.577																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(412-414)aAg>aGg		transient receptor potential cation channel, subfamily M, member 2							164.0	132.0	143.0					21																	45784155		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45784155A>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.413A>G	21.37:g.45784155A>G	ENSP00000381023:p.Lys138Arg					TRPM2_ENST00000300482.5_Missense_Mutation_p.K138R|TRPM2_ENST00000300481.9_Missense_Mutation_p.K138R|TRPM2_ENST00000397932.2_Missense_Mutation_p.K138R	p.K138R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			3	858	+			138					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.413A>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	5.443	0.266758	0.10294	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.3	4.3	0.51218	.	0.185098	0.45867	D	0.000331	T	0.33556	0.0867	L	0.28115	0.83	0.25389	N	0.988549	B;B	0.31548	0.328;0.041	B;B	0.25405	0.06;0.025	T	0.14699	-1.0463	10	0.27785	T	0.31	-17.615	8.2627	0.31795	0.9095:0.0:0.0905:0.0	.	138;138	E9PGK7;O94759	.;TRPM2_HUMAN	R	138	ENSP00000300482:K138R;ENSP00000393982:K138R;ENSP00000381023:K138R;ENSP00000300481:K138R;ENSP00000381026:K138R	ENSP00000300481:K138R	K	+	2	0	TRPM2	44608583	1.000000	0.71417	0.906000	0.35671	0.008000	0.06430	5.602000	0.67612	1.582000	0.49881	0.379000	0.24179	AAG		0.577	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		5	63	0	0	0	1	0	5	63				
RAET1L	154064	broad.mit.edu	37	6	150342236	150342236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150342236G>A	ENST00000367341.1	-	3	435	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	RAET1L_ENST00000286380.2_Nonsense_Mutation_p.Q146*			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	146	MHC class I alpha-2 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		AGGAAGGTCTGTCCATCGATA	0.502																																						ENST00000367341.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(436-438)Cag>Tag		retinoic acid early transcript 1L							279.0	243.0	255.0					6																	150342236		2203	4300	6503	SO:0001587	stop_gained	154064				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex		g.chr6:150342236G>A	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.436C>T	6.37:g.150342236G>A	ENSP00000356310:p.Gln146*					RAET1L_ENST00000286380.2_Nonsense_Mutation_p.Q146*	p.Q146*			Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	3	435	-		Ovarian(120;0.028)	146			MHC class I alpha-2 like (By similarity).		A3KME4|Q8TE74	Nonsense_Mutation	SNP	ENST00000367341.1	37	c.436C>T	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	g	7.301	0.612987	0.14066	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	.	.	.	1.91	-3.34	0.04943	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3412	0.11110	0.0:0.1974:0.2654:0.5372	.	.	.	.	X	146	.	ENSP00000286380:Q146X	Q	-	1	0	RAET1L	150383929	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.036000	0.12185	-0.830000	0.04262	-0.479000	0.04858	CAG		0.502	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		51	84	0	0	0	1	0	51	84				
DPF1	8193	broad.mit.edu	37	19	38713067	38713067	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38713067G>A	ENST00000420980.2	-	3	335	c.309C>T	c.(307-309)cgC>cgT	p.R103R	DPF1_ENST00000412732.1_Silent_p.R21R|DPF1_ENST00000416611.1_Silent_p.R77R|DPF1_ENST00000355526.4_Silent_p.R103R|DPF1_ENST00000414789.1_Silent_p.R21R|DPF1_ENST00000456296.1_Silent_p.R77R	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	103					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTCCAACAGCGGGCGGGGT	0.692																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(229-231)cgC>cgT		D4, zinc and double PHD fingers family 1							119.0	117.0	118.0					19																	38713067		2203	4300	6503	SO:0001819	synonymous_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713067G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.309C>T	19.37:g.38713067G>A						DPF1_ENST00000412732.1_Silent_p.R21R|DPF1_ENST00000420980.2_Silent_p.R103R|DPF1_ENST00000414789.1_Silent_p.R21R|DPF1_ENST00000456296.1_Silent_p.R77R|DPF1_ENST00000355526.4_Silent_p.R103R	p.R77R			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	354	-	all_cancers(60;1.24e-06)		103					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.231C>T	CCDS33008.2																																																																																				0.692	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			63	86	0	0	0	1	0	63	86				
HSPG2	3339	broad.mit.edu	37	1	22188562	22188562	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22188562G>T	ENST00000374695.3	-	38	4866	c.4787C>A	c.(4786-4788)cCt>cAt	p.P1596H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1596	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTAGTAGCCAGGGGCACAAAG	0.612																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(4786-4788)cCt>cAt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						67.0	67.0	67.0					1																	22188562		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22188562G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4787C>A	1.37:g.22188562G>T	ENSP00000363827:p.Pro1596His						p.P1596H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	38	4866	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1596			Laminin EGF-like 10.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.4787C>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908609	0.72868	.	.	ENSG00000142798	ENST00000374695	T	0.63744	-0.06	5.48	4.57	0.56435	EGF-like, laminin (4);	0.190741	0.25804	N	0.028187	T	0.79488	0.4454	M	0.90595	3.13	0.33820	D	0.628995	D	0.65815	0.995	P	0.60789	0.879	D	0.87842	0.2652	10	0.66056	D	0.02	.	12.0436	0.53466	0.0827:0.0:0.9173:0.0	.	1596	P98160	PGBM_HUMAN	H	1596	ENSP00000363827:P1596H	ENSP00000363827:P1596H	P	-	2	0	HSPG2	22061149	1.000000	0.71417	0.242000	0.24170	0.981000	0.71138	5.945000	0.70226	1.552000	0.49463	0.655000	0.94253	CCT		0.612	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		8	65	1	0	0.000157383	1	0.00017284	8	65				
UCMA	221044	broad.mit.edu	37	10	13276280	13276280	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276280G>A	ENST00000378681.3	-	0	51				UCMA_ENST00000463405.2_De_novo_Start_OutOfFrame	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated						negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TAGGGGCTCCGTCCAGGACCC	0.627																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9								upper zone of growth plate and cartilage matrix associated							48.0	39.0	42.0					10																	13276280		2203	4300	6503			221044					proteinaceous extracellular matrix		g.chr10:13276280G>A	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.-22C>T	10.37:g.13276280G>A						UCMA_ENST00000463405.2_De_novo_Start_OutOfFrame		NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			0	51	-									Translation_Start_Site	SNP	ENST00000378681.3	37		CCDS31147.1																																																																																				0.627	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		10	13	0	0	0	1	0	10	13				
GBA2	57704	broad.mit.edu	37	9	35750902	35750902	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35750902G>A	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_Missense_Mutation_p.V135I|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.V175I|MSMP_ENST00000414286.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCAAGTACGTCTACAAACT	0.542																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(403-405)Gtc>Atc		RGP1 retrograde golgi transport homolog (S. cerevisiae)							77.0	79.0	78.0					9																	35750902		2000	4165	6165	SO:0001631	upstream_gene_variant	9827							g.chr9:35750902G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35750902G>A	Exception_encountered					RGP1_ENST00000456972.2_Missense_Mutation_p.V175I	p.V135I	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	544	+	all_epithelial(49;0.167)		135					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.403G>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081108	0.55753	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	L	0.43923	1.385	0.80722	D	1	P;P	0.39601	0.68;0.68	B;B	0.30855	0.121;0.121	T	0.44314	-0.9336	9	0.21540	T	0.41	-18.9361	18.3698	0.90403	0.0:0.0:1.0:0.0	.	135;135	Q92546;A8K0K1	RGP1_HUMAN;.	I	175;135	.	ENSP00000367318:V135I	V	+	1	0	RGP1	35740902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.659000	0.91116	2.636000	0.89361	0.655000	0.94253	GTC		0.542	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		16	28	0	0	0	1	0	16	28				
SSPO	23145	broad.mit.edu	37	7	149509032	149509032	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149509032G>A	ENST00000378016.2	+	0	9578							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCTTGGAGCCAGTGTTCA	0.682																																						ENST00000378016.2																			0													SCO-spondin							32.0	37.0	35.0					7																	149509032		2061	4181	6242			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509032G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509032G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9578	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	40	0	0	0	1	0	9	40				
ZNF416	55659	broad.mit.edu	37	19	58084983	58084983	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58084983T>C	ENST00000196489.3	-	4	511	c.289A>G	c.(289-291)Agt>Ggt	p.S97G		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	97	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGGATGGACTGGCCTCTGGA	0.498																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(289-291)Agt>Ggt		zinc finger protein 416							115.0	105.0	109.0					19																	58084983		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084983T>C	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.289A>G	19.37:g.58084983T>C	ENSP00000196489:p.Ser97Gly						p.S97G	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	511	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	97			KRAB.		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.289A>G	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.708554	0.00712	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.07216	3.21	3.22	-1.95	0.07548	Krueppel-associated box (1);	.	.	.	.	T	0.03053	0.0090	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47262	-0.9131	9	0.21014	T	0.42	.	8.4095	0.32636	0.0:0.6861:0.0:0.3139	.	97	Q9BWM5	ZN416_HUMAN	G	97;83;77	ENSP00000196489:S97G	ENSP00000196489:S97G	S	-	1	0	ZNF416	62776795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.212000	0.09319	-0.294000	0.08973	-1.263000	0.01449	AGT		0.498	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		3	53	0	0	0	1	0	3	53				
CELSR1	9620	broad.mit.edu	37	22	46774548	46774548	+	Silent	SNP	G	G	A	rs370573042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46774548G>A	ENST00000262738.3	-	23	7322	c.7323C>T	c.(7321-7323)gtC>gtT	p.V2441V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2441	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGCAGGCGACATGTGTCC	0.657																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(7321-7323)gtC>gtT		cadherin, EGF LAG seven-pass G-type receptor 1		G		0,4390		0,0,2195	37.0	34.0	35.0		7323	-4.7	0.0	22		35	1,8581		0,1,4290	no	coding-synonymous	CELSR1	NM_014246.1		0,1,6485	AA,AG,GG		0.0117,0.0,0.0077		2441/3015	46774548	1,12971	2195	4291	6486	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46774548G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7323C>T	22.37:g.46774548G>A							p.V2441V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	23	7322	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2441			GPS.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.7323C>T	CCDS14076.1																																																																																				0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		4	4	0	0	0	1	0	4	4				
VWA7	80737	broad.mit.edu	37	6	31743783	31743783	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31743783G>A	ENST00000375688.4	-	3	671	c.471C>T	c.(469-471)acC>acT	p.T157T	VWA7_ENST00000375686.3_Silent_p.T157T|VWA7_ENST00000467576.1_Intron|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_Silent_p.T157T			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	157						extracellular region (GO:0005576)											GGCGAGCCAGGGTGTGGTCAA	0.667																																						ENST00000375686.3																			0											c.(469-471)acC>acT		von Willebrand factor A domain containing 7							54.0	62.0	59.0					6																	31743783		2203	4300	6503	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31743783G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.471C>T	6.37:g.31743783G>A						VWA7_ENST00000375688.4_Silent_p.T157T|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Silent_p.T157T	p.T157T	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			3	708	-			157					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.471C>T	CCDS4721.2																																																																																				0.667	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		43	56	0	0	0	1	0	43	56				
ZNF805	390980	broad.mit.edu	37	19	57755401	57755401	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57755401G>A	ENST00000414468.2	+	2	141	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ZNF805_ENST00000354309.4_Intron|ZNF805_ENST00000535550.1_Intron	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						AAAACTGTGGGCTCCTGGTAT	0.592																																						ENST00000414468.2																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(139-141)ggG>ggA		zinc finger protein 805							141.0	141.0	141.0					19																	57755401		692	1591	2283	SO:0001819	synonymous_variant	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57755401G>A	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.141G>A	19.37:g.57755401G>A						ZNF805_ENST00000354309.4_Intron|ZNF805_ENST00000535550.1_Intron	p.G47G	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN			2	141	+			47			KRAB.		B4DNM5	Silent	SNP	ENST00000414468.2	37	c.141G>A	CCDS46207.1																																																																																				0.592	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		9	13	0	0	0	1	0	9	13				
PDE4DIP	9659	broad.mit.edu	37	1	144906421	144906421	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906421C>A	ENST00000369354.3	-	18	2625	c.2436G>T	c.(2434-2436)aaG>aaT	p.K812N	PDE4DIP_ENST00000369359.4_Splice_Site_p.K949N|PDE4DIP_ENST00000530740.1_Splice_Site_p.K949N|PDE4DIP_ENST00000369351.3_Splice_Site_p.K812N|PDE4DIP_ENST00000529945.1_Splice_Site_p.K975N|PDE4DIP_ENST00000313431.9_Splice_Site_p.K975N|PDE4DIP_ENST00000369349.3_Splice_Site_p.K812N|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Splice_Site_p.K812N|PDE4DIP_ENST00000313382.9_Splice_Site_p.K878N|PDE4DIP_ENST00000479408.2_Splice_Site_p.K599N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	812					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGAAAGACCTTTATGAGAT	0.443			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.e14+1		phosphodiesterase 4D interacting protein							108.0	110.0	109.0					1																	144906421		2203	4296	6499	SO:0001630	splice_region_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144906421C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2436+1G>T	1.37:g.144906421C>A						PDE4DIP_ENST00000530740.1_Splice_Site_p.K949_splice|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Splice_Site_p.K812_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.K878_splice|PDE4DIP_ENST00000313431.9_Splice_Site_p.K975_splice|PDE4DIP_ENST00000479408.2_Splice_Site_p.K599_splice|PDE4DIP_ENST00000369359.4_Splice_Site_p.K949_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.K812_splice|PDE4DIP_ENST00000369351.3_Splice_Site_p.K812_splice|PDE4DIP_ENST00000369349.3_Splice_Site_p.K812_splice	p.K975_splice			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	14	3364	-			812					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site	SNP	ENST00000369354.3	37	c.2925_splice	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708962	0.68615	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.13901	4.57;4.63;4.63;4.69;4.66;3.61;3.63;2.59;2.59;2.55	6.07	6.07	0.98685	.	.	.	.	.	T	0.19685	0.0473	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.991;0.999;0.997;0.997	T	0.00915	-1.1516	8	.	.	.	.	18.3129	0.90207	0.0:1.0:0.0:0.0	.	975;812;975;878;812	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	N	878;812;812;975;949;949;812;812;975;975;599	ENSP00000327209:K878N;ENSP00000358360:K812N;ENSP00000358363:K812N;ENSP00000435654:K949N;ENSP00000358366:K949N;ENSP00000358357:K812N;ENSP00000358355:K812N;ENSP00000316434:K975N;ENSP00000433392:K975N;ENSP00000436791:K599N	.	K	-	3	2	PDE4DIP	143617778	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	5.379000	0.66196	2.928000	0.99379	0.638000	0.83543	AAG		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Missense_Mutation	6	160	1	0	3.59834e-05	1	4.01776e-05	6	160				
ZNF532	55205	broad.mit.edu	37	18	56586209	56586209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586209C>A	ENST00000336078.4	+	4	1466	c.690C>A	c.(688-690)agC>agA	p.S230R	ZNF532_ENST00000591808.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591230.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591083.1_Missense_Mutation_p.S230R|ZNF532_ENST00000589288.1_Missense_Mutation_p.S230R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGAAGGAAAGCTCTGACAAGG	0.438																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(688-690)agC>agA		zinc finger protein 532							66.0	70.0	69.0					18																	56586209		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586209C>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.690C>A	18.37:g.56586209C>A	ENSP00000338217:p.Ser230Arg					ZNF532_ENST00000591230.1_Missense_Mutation_p.S230R|ZNF532_ENST00000589288.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591083.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591808.1_Missense_Mutation_p.S230R	p.S230R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1466	+			230					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.690C>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	c	0.678	-0.799159	0.02841	.	.	ENSG00000074657	ENST00000336078	T	0.01538	4.79	5.36	5.36	0.76844	.	0.504809	0.24160	N	0.040989	T	0.01592	0.0051	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.14578	0.011	T	0.44742	-0.9308	10	0.51188	T	0.08	-4.9644	7.37	0.26796	0.0:0.7934:0.0:0.2066	.	230	Q9HCE3	ZN532_HUMAN	R	230	ENSP00000338217:S230R	ENSP00000338217:S230R	S	+	3	2	ZNF532	54737189	0.944000	0.32072	0.438000	0.26821	0.669000	0.39330	2.923000	0.48868	2.520000	0.84964	0.550000	0.68814	AGC		0.438	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		7	75	1	0	8.12818e-05	1	8.99451e-05	7	75				
UBA3	9039	broad.mit.edu	37	3	69120750	69120750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69120750G>A	ENST00000361055.4	-	5	337	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	UBA3_ENST00000349511.4_Nonsense_Mutation_p.Q81*|UBA3_ENST00000415609.2_Nonsense_Mutation_p.Q54*|UBA3_ENST00000540295.1_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	95					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACATGAATCTGTCTAAAACCA	0.299																																						ENST00000361055.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(283-285)Cag>Tag		ubiquitin-like modifier activating enzyme 3							36.0	38.0	38.0					3																	69120750		2202	4289	6491	SO:0001587	stop_gained	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69120750G>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.283C>T	3.37:g.69120750G>A	ENSP00000354340:p.Gln95*					UBA3_ENST00000349511.4_Nonsense_Mutation_p.Q81*|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Nonsense_Mutation_p.Q54*	p.Q95*	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	5	337	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	95					A6NLB5|A8K027|O76088|Q9NTU3	Nonsense_Mutation	SNP	ENST00000361055.4	37	c.283C>T	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579331	0.86645	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511	.	.	.	5.87	4.95	0.65309	.	0.216609	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-6.3904	15.8274	0.78725	0.0:0.0:0.8636:0.1364	.	.	.	.	X	54;95;81	.	ENSP00000340041:Q81X	Q	-	1	0	UBA3	69203440	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.728000	0.54991	2.785000	0.95823	0.655000	0.94253	CAG		0.299	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		6	31	0	0	0	1	0	6	31				
OAT	4942	broad.mit.edu	37	10	126094005	126094005	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126094005C>A	ENST00000368845.5	-	5	740	c.648G>T	c.(646-648)gaG>gaT	p.E216D	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Splice_Site_p.E78D	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	216					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	AGTGAAATACCTCCAGTGCGG	0.393																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.e5+1		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						96.0	83.0	87.0					10																	126094005		2203	4300	6503	SO:0001630	splice_region_variant	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126094005C>A	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.648+1G>T	10.37:g.126094005C>A						OAT_ENST00000539214.1_Splice_Site_p.E78_splice|OAT_ENST00000467675.1_5'UTR	p.E216_splice	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN			5	740	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	216					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Splice_Site	SNP	ENST00000368845.5	37	c.648_splice	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702564	0.68501	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.99311	-5.73;-5.73	4.4	4.4	0.53042	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	M	0.72353	2.195	0.80722	D	1	B	0.21381	0.055	B	0.33392	0.163	D	0.99936	1.1365	9	.	.	.	-4.5449	17.8803	0.88838	0.0:1.0:0.0:0.0	.	216	P04181	OAT_HUMAN	D	78;216	ENSP00000439042:E78D;ENSP00000357838:E216D	.	E	-	3	2	OAT	126083995	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.406000	0.80017	2.406000	0.81754	0.563000	0.77884	GAG		0.393	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274	Missense_Mutation	8	52	1	0	1.12685e-05	1	1.27857e-05	8	52				
TGFBR2	7048	broad.mit.edu	37	3	30691945	30691945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30691945C>A	ENST00000295754.5	+	3	829	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TGFBR2_ENST00000359013.4_Missense_Mutation_p.F174L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	149					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACATCATCTTCTCAGAAGGTG	0.428																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(445-447)ttC>ttA		transforming growth factor, beta receptor II (70/80kDa)							111.0	102.0	105.0					3																	30691945		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691945C>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.447C>A	3.37:g.30691945C>A	ENSP00000295754:p.Phe149Leu					TGFBR2_ENST00000359013.4_Missense_Mutation_p.F174L	p.F149L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			3	829	+			149					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.447C>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192663	0.78902	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	D;D	0.89875	-2.58;-2.58	5.97	3.2	0.36748	Transforming growth factor beta receptor 2 ectodomain (1);	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	L	0.61387	1.9	0.48288	D	0.999623	P;B	0.48998	0.918;0.363	D;P	0.68353	0.957;0.543	D	0.86880	0.2041	10	0.21014	T	0.42	.	8.655	0.34058	0.0:0.6335:0.0:0.3665	.	149;174	P37173;D2JYI1	TGFR2_HUMAN;.	L	149;174;15;15	ENSP00000295754:F149L;ENSP00000351905:F174L	ENSP00000295754:F149L	F	+	3	2	TGFBR2	30666949	0.944000	0.32072	0.968000	0.41197	0.996000	0.88848	0.605000	0.24179	0.407000	0.25591	0.655000	0.94253	TTC		0.428	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			47	70	1	0	6.08268e-21	1	7.99347e-21	47	70				
RAB4B	53916	broad.mit.edu	37	19	41292767	41292767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41292767G>A	ENST00000594800.1	+	7	701	c.541G>A	c.(541-543)Gag>Aag	p.E181K	RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.E181K|RAB4B_ENST00000357052.2_Missense_Mutation_p.E181K|RAB4B-EGLN2_ENST00000601949.1_3'UTR			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	181					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTAGACCCGGAGAGGATGGG	0.701																																						ENST00000594136.1																			0											c.(541-543)Gag>Aag									60.0	57.0	58.0					19																	41292767		2203	4300	6503	SO:0001583	missense	0							g.chr19:41292767G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.541G>A	19.37:g.41292767G>A	ENSP00000470246:p.Glu181Lys					RAB4B_ENST00000594800.1_Missense_Mutation_p.E181K|RAB4B_ENST00000357052.2_Missense_Mutation_p.E181K|RAB4B-EGLN2_ENST00000601949.1_3'UTR	p.E181K							7	646	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.541G>A	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	14.28	2.488779	0.44249	.	.	ENSG00000167578	ENST00000357052	T	0.79454	-1.27	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	L	0.29908	0.895	0.80722	D	1	P;B	0.44877	0.845;0.084	B;B	0.43103	0.408;0.022	T	0.72279	-0.4340	10	0.38643	T	0.18	.	16.7486	0.85479	0.0:0.0:1.0:0.0	.	216;181	P61018-2;P61018	.;RAB4B_HUMAN	K	181	ENSP00000349560:E181K	ENSP00000349560:E181K	E	+	1	0	RAB4B	45984607	1.000000	0.71417	0.960000	0.40013	0.023000	0.10783	9.367000	0.97148	2.474000	0.83562	0.502000	0.49764	GAG		0.701	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		15	49	0	0	0	1	0	15	49				
AMBP	259	broad.mit.edu	37	9	116840374	116840374	+	Splice_Site	SNP	C	C	T	rs535072502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116840374C>T	ENST00000265132.3	-	1	378	c.116G>A	c.(115-117)cGg>cAg	p.R39Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	39					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCTTACCCGAGAGATATT	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18109	0.0		0.0	False		,,,				2504	0.0					ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.e1+1		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						119.0	128.0	125.0					9																	116840374		2203	4300	6503	SO:0001630	splice_region_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116840374C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.117+1G>A	9.37:g.116840374C>T							p.R39_splice	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			1	378	-			39					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Splice_Site	SNP	ENST00000265132.3	37	c.117_splice	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521540	0.44866	.	.	ENSG00000106927	ENST00000265132	D	0.83992	-1.79	4.39	4.39	0.52855	Lipocalin conserved site (1);Calycin-like (1);Calycin (1);	0.265000	0.37095	N	0.002248	T	0.78534	0.4298	M	0.79475	2.455	0.80722	D	1	P	0.39352	0.669	B	0.23419	0.046	T	0.80919	-0.1167	10	0.44086	T	0.13	.	12.6536	0.56776	0.0:1.0:0.0:0.0	.	39	P02760	AMBP_HUMAN	Q	39	ENSP00000265132:R39Q	ENSP00000265132:R39Q	R	-	2	0	AMBP	115880195	0.986000	0.35501	0.967000	0.41034	0.465000	0.32709	2.633000	0.46519	2.428000	0.82296	0.563000	0.77884	CGG		0.642	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633	Missense_Mutation	5	66	0	0	0	1	0	5	66				
DAXX	1616	broad.mit.edu	37	6	33288606	33288606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33288606C>T	ENST00000374542.5	-	3	1150	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.A316T|DAXX_ENST00000414083.2_Missense_Mutation_p.A241T|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	316	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTCGGAAGGCATCCTGAGCC	0.587			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(946-948)Gcc>Acc		death-domain associated protein							103.0	96.0	98.0					6																	33288606		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288606C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.946G>A	6.37:g.33288606C>T	ENSP00000363668:p.Ala316Thr					DAXX_ENST00000414083.2_Missense_Mutation_p.A241T|DAXX_ENST00000266000.6_Missense_Mutation_p.A316T|DAXX_ENST00000477162.1_Intron	p.A316T	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	1150	-			316					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.946G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686412	0.88639	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.81942	2.565	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.978;1.0;1.0	T	0.79415	-0.1813	9	0.72032	D	0.01	-16.8868	15.1302	0.72517	0.0:1.0:0.0:0.0	.	328;316;316	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	T	316;316;241	.	ENSP00000266000:A316T	A	-	1	0	DAXX	33396584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.434000	0.73408	2.437000	0.82529	0.643000	0.83706	GCC		0.587	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			43	68	0	0	0	1	0	43	68				
ATP5L2	267020	broad.mit.edu	37	22	43036038	43036038	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43036038A>G	ENST00000505920.1	-	1	569	c.243T>C	c.(241-243)acT>acC	p.T81T	CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000396303.3_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	81					ATP synthesis coupled proton transport (GO:0015986)	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(1)|kidney(1)	2						TCGACACCTCAGTGGCCACCA	0.438																																						ENST00000505920.1																			0				endometrium(1)|kidney(1)	2						c.(241-243)acT>acC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2							125.0	90.0	101.0					22																	43036038		692	1591	2283	SO:0001819	synonymous_variant	267020				ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr22:43036038A>G	AF092923	CCDS54534.1	22q13.2	2012-10-12	2010-06-11		ENSG00000249222	ENSG00000249222		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	13213	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F1F0, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2"""	ATP5K2			Standard	NM_001165877		Approved	dJ222E13.5	uc003bda.1	Q7Z4Y8	OTTHUMG00000150890	ENST00000505920.1:c.243T>C	22.37:g.43036038A>G						CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000407623.3_Intron	p.T81T	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN			1	569	-			81						Silent	SNP	ENST00000505920.1	37	c.243T>C	CCDS54534.1																																																																																				0.438	ATP5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320450.2	NM_001165877		5	31	0	0	0	1	0	5	31				
CAPZB	832	broad.mit.edu	37	1	19712004	19712004	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19712004G>A	ENST00000375142.1	-	3	256	c.210C>T	c.(208-210)tcC>tcT	p.S70S	CAPZB_ENST00000264203.3_Silent_p.S96S|CAPZB_ENST00000433834.1_Silent_p.S99S|CAPZB_ENST00000264202.6_Silent_p.S70S|CAPZB_ENST00000375144.1_Silent_p.S58S|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000401084.2_Silent_p.S70S	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	70					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTCACCTATAGGAGTCCCCAT	0.567																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(286-288)tcC>tcT		capping protein (actin filament) muscle Z-line, beta							90.0	90.0	90.0					1																	19712004		2009	4176	6185	SO:0001819	synonymous_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712004G>A	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.210C>T	1.37:g.19712004G>A						CAPZB_ENST00000401084.2_Silent_p.S70S|CAPZB_ENST00000375142.1_Silent_p.S70S|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000264202.6_Silent_p.S70S|CAPZB_ENST00000433834.1_Silent_p.S99S|CAPZB_ENST00000375144.1_Silent_p.S58S	p.S96S			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	4	781	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	70					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.288C>T	CCDS55579.1																																																																																				0.567	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			18	30	0	0	0	1	0	18	30				
CEP131	22994	broad.mit.edu	37	17	79166385	79166385	+	Missense_Mutation	SNP	G	G	A	rs565745717	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79166385G>A	ENST00000269392.4	-	20	2694	c.2447C>T	c.(2446-2448)gCg>gTg	p.A816V	AZI1_ENST00000575907.1_Missense_Mutation_p.A780V|AZI1_ENST00000374782.3_Missense_Mutation_p.A777V|AZI1_ENST00000450824.2_Missense_Mutation_p.A813V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		816					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCCAGCTCCGCCCGCTGCCT	0.682													G|||	2	0.000399361	0.0	0.0	5008	,	,		11075	0.0		0.0	False		,,,				2504	0.002					ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(2446-2448)gCg>gTg		5-azacytidine induced 1							20.0	20.0	20.0					17																	79166385		2187	4289	6476	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79166385G>A																												ENST00000269392.4:c.2447C>T	17.37:g.79166385G>A	ENSP00000269392:p.Ala816Val					AZI1_ENST00000575907.1_Missense_Mutation_p.A780V|AZI1_ENST00000450824.2_Missense_Mutation_p.A813V|AZI1_ENST00000374782.3_Missense_Mutation_p.A777V	p.A816V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		20	2694	-	all_neural(118;0.0804)|Melanoma(429;0.242)		816					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2447C>T		.	.	.	.	.	.	.	.	.	.	G	14.28	2.488359	0.44249	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16743	2.32;2.4;2.32	3.28	1.12	0.20585	.	0.237751	0.34879	N	0.003612	T	0.12092	0.0294	L	0.35723	1.085	0.35939	D	0.833102	B;B;B;B	0.31989	0.35;0.333;0.163;0.163	B;B;B;B	0.32393	0.145;0.102;0.049;0.049	T	0.17258	-1.0375	10	0.40728	T	0.16	-6.572	8.0234	0.30423	0.0932:0.1602:0.7467:0.0	.	813;816;777;813	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	813;777;816	ENSP00000393583:A813V;ENSP00000363914:A777V;ENSP00000269392:A816V	ENSP00000269392:A816V	A	-	2	0	AZI1	76780980	0.797000	0.28877	0.115000	0.21578	0.529000	0.34654	2.526000	0.45607	0.087000	0.17167	0.313000	0.20887	GCG		0.682	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			9	4	0	0	0	1	0	9	4				
PRICKLE2	166336	broad.mit.edu	37	3	64133153	64133153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133153G>A	ENST00000295902.6	-	7	1598	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A394V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	338					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCAATTTTGGCACTGCGCCG	0.602																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1012-1014)gCc>gTc		prickle homolog 2 (Drosophila)							102.0	116.0	111.0					3																	64133153		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133153G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1013C>T	3.37:g.64133153G>A	ENSP00000295902:p.Ala338Val					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A394V	p.A338V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1598	-		Lung NSC(201;0.136)	338					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1013C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388332	0.25118	.	.	ENSG00000163637	ENST00000295902	T	0.57436	0.4	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.38799	0.1054	N	0.24115	0.695	0.80722	D	1	B	0.29590	0.25	B	0.22601	0.04	T	0.29549	-1.0008	10	0.07990	T	0.79	-35.6163	20.6634	0.99662	0.0:0.0:1.0:0.0	.	338	Q7Z3G6	PRIC2_HUMAN	V	338	ENSP00000295902:A338V	ENSP00000295902:A338V	A	-	2	0	PRICKLE2	64108193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCC		0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		59	103	0	0	0	1	0	59	103				
RGL2	5863	broad.mit.edu	37	6	33261844	33261844	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33261844C>A	ENST00000497454.1	-	12	1849		c.e12-1		RGL2_ENST00000444031.2_Splice_Site|RGL2_ENST00000437840.2_Splice_Site|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2						positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTATCCATTCTGCGAGGAAA	0.517																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.e12-1		ral guanine nucleotide dissociation stimulator-like 2							139.0	141.0	140.0					6																	33261844		2203	4300	6503	SO:0001630	splice_region_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33261844C>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1354-1G>T	6.37:g.33261844C>A						RGL2_ENST00000437840.2_Splice_Site|RGL2_ENST00000444031.2_Splice_Site|PFDN6_ENST00000463584.1_Intron		NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			12	1849	-								B4DG72|Q5STK0|Q9Y3F3	Splice_Site	SNP	ENST00000497454.1	37		CCDS4774.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770915	0.69992	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3245	0.60452	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGL2	33369822	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.978000	0.70501	2.505000	0.84491	0.643000	0.83706	.		0.517	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2		Intron	12	177	1	0	0.000978159	1	0.00105116	12	177				
HSDL1	83693	broad.mit.edu	37	16	84163651	84163651	+	Silent	SNP	C	C	T	rs148654230		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84163651C>T	ENST00000219439.4	-	4	782	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_ENST00000434463.3_Silent_p.T147T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	202						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18729	0.0		0.0	False		,,,				2504	0.0					ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(604-606)acG>acA		hydroxysteroid dehydrogenase like 1		C	,	0,4400		0,0,2200	115.0	97.0	103.0		441,606	-7.0	0.6	16	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HSDL1	NM_001146051.1,NM_031463.4	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	147/276,202/331	84163651	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163651C>T	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.606G>A	16.37:g.84163651C>T						HSDL1_ENST00000434463.3_Silent_p.T147T	p.T202T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN			4	782	-			202					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Silent	SNP	ENST00000219439.4	37	c.606G>A	CCDS10942.1																																																																																				0.483	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		19	44	0	0	0	1	0	19	44				
ABCC5	10057	broad.mit.edu	37	3	183643470	183643470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183643470G>A	ENST00000334444.6	-	29	4325	c.4085C>T	c.(4084-4086)aCa>aTa	p.T1362I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T1319I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1362	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GTCTGTCTCTGTGTCCATGGC	0.458																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(4084-4086)aCa>aTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							134.0	130.0	131.0					3																	183643470		2025	4189	6214	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183643470G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4085C>T	3.37:g.183643470G>A	ENSP00000333926:p.Thr1362Ile					ABCC5_ENST00000265586.6_Missense_Mutation_p.T1319I	p.T1362I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		29	4325	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1362			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.4085C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211099	0.58343	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	T;T	0.77620	-1.11;-1.11	4.91	4.91	0.64330	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.250878	0.38663	N	0.001605	T	0.63651	0.2529	N	0.16743	0.435	0.52501	D	0.999957	P;B	0.37985	0.613;0.184	B;B	0.35182	0.197;0.054	T	0.62637	-0.6812	10	0.17832	T	0.49	-11.8427	18.2928	0.90136	0.0:0.0:1.0:0.0	.	1319;1362	Q86UX3;O15440	.;MRP5_HUMAN	I	1362;1319	ENSP00000333926:T1362I;ENSP00000265586:T1319I	ENSP00000265586:T1319I	T	-	2	0	ABCC5	185126164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.354000	0.66040	2.554000	0.86153	0.655000	0.94253	ACA		0.458	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		22	47	0	0	0	1	0	22	47				
EARS2	124454	broad.mit.edu	37	16	23556017	23556017	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23556017C>T	ENST00000563459.1	-	3	309	c.303G>A	c.(301-303)ccG>ccA	p.P101P	EARS2_ENST00000449606.1_Silent_p.P101P|EARS2_ENST00000563232.1_Silent_p.P101P|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Silent_p.P101P			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	101					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TCTCATCAGGCGGGATGCCTG	0.562																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(301-303)ccG>ccA		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						11.0	13.0	12.0					16																	23556017		1931	4142	6073	SO:0001819	synonymous_variant	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23556017C>T	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.303G>A	16.37:g.23556017C>T						EARS2_ENST00000563459.1_Silent_p.P101P|EARS2_ENST00000563232.1_Silent_p.P101P|EARS2_ENST00000564501.1_Silent_p.P101P|EARS2_ENST00000564987.1_Intron	p.P101P	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	3	334	-			101					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	c.303G>A	CCDS42132.1																																																																																				0.562	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		5	6	0	0	0	1	0	5	6				
SPG7	6687	broad.mit.edu	37	16	89598878	89598878	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89598878C>T	ENST00000268704.2	+	9	1173	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	SPG7_ENST00000341316.2_Silent_p.G386G|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	386					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGGCCTCGGCGCTGCCCGTG	0.577																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1156-1158)ggC>ggT		spastic paraplegia 7 (pure and complicated autosomal recessive)							33.0	39.0	37.0					16																	89598878		2182	4283	6465	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598878C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1158C>T	16.37:g.89598878C>T						SPG7_ENST00000341316.2_Silent_p.G386G	p.G386G	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	9	1173	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	386					O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1158C>T	CCDS10977.1																																																																																				0.577	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		23	45	0	0	0	1	0	23	45				
MAP4K3	8491	broad.mit.edu	37	2	39477781	39477781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39477781G>A	ENST00000263881.3	-	34	2987	c.2663C>T	c.(2662-2664)gCg>gTg	p.A888V	MAP4K3_ENST00000341681.5_Missense_Mutation_p.A867V|MAP4K3_ENST00000437545.1_Missense_Mutation_p.A804V|MAP4K3_ENST00000536018.1_Missense_Mutation_p.A441V	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	888					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTCATGACCCGCCAGGATGTA	0.378																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2662-2664)gCg>gTg		mitogen-activated protein kinase kinase kinase kinase 3							136.0	117.0	124.0					2																	39477781		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39477781G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2663C>T	2.37:g.39477781G>A	ENSP00000263881:p.Ala888Val					MAP4K3_ENST00000341681.5_Missense_Mutation_p.A867V|MAP4K3_ENST00000536018.1_Missense_Mutation_p.A441V|MAP4K3_ENST00000437545.1_Missense_Mutation_p.A804V	p.A888V	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			34	2987	-		all_hematologic(82;0.211)	888					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2663C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723873	0.89298	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.74737	-0.87;-0.71;-0.86;2.06	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.82486	0.5047	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.949;0.999	D	0.83367	0.0005	10	0.72032	D	0.01	.	19.3682	0.94473	0.0:0.0:1.0:0.0	.	867;888	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	V	888;804;867;441	ENSP00000263881:A888V;ENSP00000416958:A804V;ENSP00000345434:A867V;ENSP00000440580:A441V	ENSP00000263881:A888V	A	-	2	0	MAP4K3	39331285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.062000	0.93920	2.818000	0.97014	0.591000	0.81541	GCG		0.378	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		21	32	0	0	0	1	0	21	32				
CEACAM5	1048	broad.mit.edu	37	19	42219608	42219608	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42219608C>A	ENST00000221992.6	+	4	857	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	CEACAM5_ENST00000405816.1_Missense_Mutation_p.S248Y|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S248Y	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	248	Ig-like 3.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTAAACACATCTTACAGATCA	0.507																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(742-744)tCt>tAt		carcinoembryonic antigen-related cell adhesion molecule 5							85.0	83.0	84.0					19																	42219608		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42219608C>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.743C>A	19.37:g.42219608C>A	ENSP00000221992:p.Ser248Tyr					CEACAM5_ENST00000398599.4_Missense_Mutation_p.S248Y|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S248Y|CEA_ENST00000598976.1_Intron	p.S248Y	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	4	857	+			248			Ig-like 3.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.743C>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.112124	0.00032	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.12569	2.67;2.67	3.19	0.593	0.17478	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05318	0.0141	N	0.05554	-0.025	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.16722	0.001;0.016	T	0.43909	-0.9362	9	0.06236	T	0.91	.	7.0622	0.25131	0.518:0.4819:0.0:0.0	.	248;248	P06731;Q53G30	CEAM5_HUMAN;.	Y	248	ENSP00000221992:S248Y;ENSP00000385072:S248Y	ENSP00000221992:S248Y	S	+	2	0	CEACAM5	46911448	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-0.551000	0.06027	0.261000	0.21753	-0.823000	0.03104	TCT		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		5	52	1	0	0.000602214	1	0.000649039	5	52				
WDR70	55100	broad.mit.edu	37	5	37703146	37703146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37703146G>A	ENST00000265107.4	+	13	1529	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H	RNU6-484P_ENST00000384016.1_RNA	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	458							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTGAGCGTAGGACTTTC	0.423																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1372-1374)cGt>cAt		WD repeat domain 70							126.0	114.0	118.0					5																	37703146		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37703146G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1373G>A	5.37:g.37703146G>A	ENSP00000265107:p.Arg458His						p.R458H	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		13	1529	+	all_lung(31;0.000285)		458					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1373G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523092	0.64747	.	.	ENSG00000082068	ENST00000265107	T	0.01335	5.0	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.246635	0.34223	N	0.004145	T	0.02533	0.0077	M	0.74647	2.275	0.80722	D	1	B	0.33841	0.428	B	0.20577	0.03	T	0.52162	-0.8612	10	0.38643	T	0.18	-35.416	14.7489	0.69511	0.0:0.0:0.8553:0.1447	.	458	Q9NW82	WDR70_HUMAN	H	458	ENSP00000265107:R458H	ENSP00000265107:R458H	R	+	2	0	WDR70	37738903	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.761000	0.68801	2.880000	0.98712	0.650000	0.86243	CGT		0.423	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		34	49	0	0	0	1	0	34	49				
TTN	7273	broad.mit.edu	37	2	179528763	179528763	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528763G>A	ENST00000591111.1	-	154	34489				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P12115S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACTTCAGGCTTTTTAGGA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36343-36345)Cct>Tct		titin							130.0	126.0	127.0					2																	179528763		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528763G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5242C>T	2.37:g.179528763G>A						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.P12115S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		169	36567	-			10264			Ig-like 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36343C>T		.	.	.	.	.	.	.	.	.	.	G	14.94	2.685820	0.47991	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	5.16	2.08	0.27032	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.09310	N	0.999999	P	0.47350	0.894	B	0.39935	0.314	T	0.14008	-1.0488	7	0.49607	T	0.09	.	2.8531	0.05564	0.1492:0.2648:0.4498:0.1361	.	389	Q71S18	.	S	389;241	.	ENSP00000376219:P241S	P	-	1	0	TTN	179237008	0.000000	0.05858	0.397000	0.26308	0.023000	0.10783	-0.419000	0.07071	0.634000	0.30469	0.655000	0.94253	CCT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	61	0	0	0	1	0	29	61				
COX15	1355	broad.mit.edu	37	10	101478228	101478228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101478228G>A	ENST00000016171.5	-	7	912	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	COX15_ENST00000370483.5_Missense_Mutation_p.L288F|CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'Flank			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	288					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTATAAACAAGCCCAGCATCT	0.433																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(862-864)Ctt>Ttt		cytochrome c oxidase assembly homolog 15 (yeast)							77.0	84.0	81.0					10																	101478228		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101478228G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.862C>T	10.37:g.101478228G>A	ENSP00000016171:p.Leu288Phe					COX15_ENST00000016171.5_Missense_Mutation_p.L288F|CUTC_ENST00000493385.1_Intron	p.L288F	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	7	912	-		Colorectal(252;0.234)	288					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.862C>T	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294060	0.81025	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.84660	-1.88;-1.88	5.23	5.23	0.72850	.	0.124885	0.53938	D	0.000043	D	0.91385	0.7282	M	0.62016	1.91	0.80722	D	1	D;D	0.67145	0.996;0.975	D;D	0.72075	0.976;0.961	D	0.92067	0.5661	10	0.72032	D	0.01	-3.7226	18.8373	0.92168	0.0:0.0:1.0:0.0	.	288;288	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	F	288	ENSP00000359514:L288F;ENSP00000016171:L288F	ENSP00000016171:L288F	L	-	1	0	COX15	101468218	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.304000	0.78882	2.446000	0.82766	0.558000	0.71614	CTT		0.433	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		5	70	0	0	0	1	0	5	70				
ILKAP	80895	broad.mit.edu	37	2	239098610	239098610	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239098610G>T	ENST00000254654.3	-	4	357	c.182C>A	c.(181-183)tCt>tAt	p.S61Y		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	61					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGTGGCAAGAGAACCTGGAAA	0.438																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(181-183)tCt>tAt		integrin-linked kinase-associated serine/threonine phosphatase							82.0	78.0	80.0					2																	239098610		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239098610G>T	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.182C>A	2.37:g.239098610G>T	ENSP00000254654:p.Ser61Tyr						p.S61Y	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	4	357	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	61					B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.182C>A	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200071	0.79015	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.51574	1.85;0.7	5.69	5.69	0.88448	.	0.678932	0.15579	N	0.255002	T	0.46964	0.1420	N	0.14661	0.345	0.51482	D	0.999927	D	0.56521	0.976	P	0.53809	0.735	T	0.51772	-0.8663	10	0.72032	D	0.01	.	16.7261	0.85422	0.0:0.0:1.0:0.0	.	61	Q9H0C8	ILKAP_HUMAN	Y	61	ENSP00000254654:S61Y;ENSP00000395301:S61Y	ENSP00000254654:S61Y	S	-	2	0	ILKAP	238763349	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	4.191000	0.58372	2.688000	0.91661	0.460000	0.39030	TCT		0.438	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		7	62	1	0	2.0095e-06	1	2.31757e-06	7	62				
AUTS2	26053	broad.mit.edu	37	7	69364466	69364466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:69364466G>A	ENST00000342771.4	+	2	825	c.504G>A	c.(502-504)atG>atA	p.M168I	AUTS2_ENST00000406775.2_Missense_Mutation_p.M168I|AUTS2_ENST00000403018.2_Missense_Mutation_p.M168I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	168										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAAGAAAATGCCGAAGGCAC	0.502																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(502-504)atG>atA		autism susceptibility candidate 2							76.0	77.0	77.0					7																	69364466		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364466G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.504G>A	7.37:g.69364466G>A	ENSP00000344087:p.Met168Ile					AUTS2_ENST00000403018.2_Missense_Mutation_p.M168I|AUTS2_ENST00000406775.2_Missense_Mutation_p.M168I	p.M168I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	825	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	168					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.504G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502884	0.26949	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.28895	1.59;1.59	5.64	3.77	0.43336	.	0.290211	0.30584	N	0.009301	T	0.10809	0.0264	N	0.03608	-0.345	0.21675	N	0.999597	B;B;B	0.23249	0.022;0.022;0.082	B;B;B	0.21708	0.009;0.009;0.036	T	0.18398	-1.0338	9	.	.	.	-6.0005	3.8465	0.08937	0.1595:0.1378:0.5749:0.1278	.	168;168;168	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	I	168	ENSP00000385263:M168I;ENSP00000344087:M168I	.	M	+	3	0	AUTS2	69002402	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	1.488000	0.35551	1.623000	0.50342	0.650000	0.86243	ATG		0.502	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			49	46	0	0	0	1	0	49	46				
KIAA0232	9778	broad.mit.edu	37	4	6864926	6864926	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864926C>A	ENST00000307659.5	+	7	3272	c.2817C>A	c.(2815-2817)acC>acA	p.T939T	KIAA0232_ENST00000425103.1_Silent_p.T939T	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	939							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AACTCAAAACCTTCAATAGTG	0.448																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2815-2817)acC>acA		KIAA0232							78.0	73.0	75.0					4																	6864926		1918	4140	6058	SO:0001819	synonymous_variant	9778						ATP binding	g.chr4:6864926C>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2817C>A	4.37:g.6864926C>A						KIAA0232_ENST00000425103.1_Silent_p.T939T	p.T939T	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	3272	+			939					A7E2D2	Silent	SNP	ENST00000307659.5	37	c.2817C>A	CCDS43209.1																																																																																				0.448	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		4	52	1	0	0.00909568	1	0.00947522	4	52				
ZMYM5	9205	broad.mit.edu	37	13	20398892	20398892	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20398892A>G	ENST00000337963.4	-	8	1999	c.1735T>C	c.(1735-1737)Tta>Cta	p.L579L		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	579						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gaataaagtaaccaggatcta	0.323																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1735-1737)Tta>Cta		zinc finger, MYM-type 5							25.0	22.0	23.0					13																	20398892		1567	3582	5149	SO:0001819	synonymous_variant	9205					nucleus	zinc ion binding	g.chr13:20398892A>G	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1735T>C	13.37:g.20398892A>G							p.L579L	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	1999	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	579					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Silent	SNP	ENST00000337963.4	37	c.1735T>C																																																																																					0.323	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		4	6	0	0	0	1	0	4	6				
MRPS26	64949	broad.mit.edu	37	20	3028480	3028480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3028480G>A	ENST00000380325.3	+	4	707	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	195					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)	2						CACCAGAGAGGGGCTGGTGGT	0.587																																						ENST00000380325.3																			0				kidney(1)|lung(1)	2						c.(583-585)Ggg>Agg		mitochondrial ribosomal protein S26							60.0	50.0	53.0					20																	3028480		2203	4300	6503	SO:0001583	missense	64949				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr20:3028480G>A	AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"""Mitochondrial ribosomal proteins / small subunits"""	14045	protein-coding gene	gene with protein product		611988	"""chromosome 20 open reading frame 193"""	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.583G>A	20.37:g.3028480G>A	ENSP00000369682:p.Gly195Arg						p.G195R	NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN			4	707	+			195					Q96Q58	Missense_Mutation	SNP	ENST00000380325.3	37	c.583G>A	CCDS13043.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613195	0.87359	.	.	ENSG00000125901	ENST00000380325	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84898	0.0840	9	0.87932	D	0	-40.8241	18.1112	0.89537	0.0:0.0:1.0:0.0	.	195	Q9BYN8	RT26_HUMAN	R	195	.	ENSP00000369682:G195R	G	+	1	0	MRPS26	2976480	1.000000	0.71417	0.973000	0.42090	0.561000	0.35649	5.696000	0.68287	2.732000	0.93576	0.591000	0.81541	GGG		0.587	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077692.2	NM_030811		4	34	0	0	0	1	0	4	34				
L3MBTL1	26013	broad.mit.edu	37	20	42169611	42169611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42169611C>A	ENST00000427442.2	+	22	2525	c.2366C>A	c.(2365-2367)aCt>aAt	p.T789N	L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T789N|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.T721N			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCTGGGAAGACTCTAGTCTGG	0.562																																						ENST00000373135.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(2161-2163)aCt>aAt		l(3)mbt-like 1 (Drosophila)							93.0	81.0	85.0					20																	42169611		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42169611C>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2366C>A	20.37:g.42169611C>A	ENSP00000402107:p.Thr789Asn					L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.T789N|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T789N|L3MBTL1_ENST00000444063.1_3'UTR	p.T721N	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN			19	2294	+			0			SAM.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.2162C>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.661667	0.00772	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135	T;T;T	0.18960	2.2;2.2;2.18	3.4	-3.57	0.04612	.	6.444420	0.00397	N	0.000059	T	0.12050	0.0293	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31336	-0.9947	10	0.62326	D	0.03	.	5.6153	0.17428	0.3631:0.1737:0.4632:0.0	.	789;109;721	Q9Y468-5;Q6ZWF5;Q9Y468-1	.;.;.	N	789;789;721	ENSP00000402107:T789N;ENSP00000398516:T789N;ENSP00000362227:T721N	ENSP00000362227:T721N	T	+	2	0	L3MBTL1	41603025	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.182000	0.09726	-0.834000	0.04239	-0.386000	0.06593	ACT		0.562	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		7	43	1	0	0.0293803	1	0.0301098	7	43				
GPI	2821	broad.mit.edu	37	19	34890140	34890140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34890140C>T	ENST00000356487.5	+	15	1539	c.1298C>T	c.(1297-1299)aCa>aTa	p.T433I	RP11-618P17.4_ENST00000606020.1_5'Flank|GPI_ENST00000586425.1_Missense_Mutation_p.T433I|GPI_ENST00000415930.3_Missense_Mutation_p.T444I	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	433					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCCCAGACAGAGGCCCTG	0.587																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1330-1332)aCa>aTa		glucose-6-phosphate isomerase							32.0	34.0	34.0					19																	34890140		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34890140C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1298C>T	19.37:g.34890140C>T	ENSP00000348877:p.Thr433Ile					GPI_ENST00000586425.1_Missense_Mutation_p.T433I|GPI_ENST00000356487.5_Missense_Mutation_p.T433I	p.T444I	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			15	1501	+	Esophageal squamous(110;0.162)		433					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1331C>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782940	0.70222	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93811	-3.29;-3.29	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	M	0.92169	3.28	0.80722	D	1	P;B;B;P	0.40107	0.698;0.334;0.35;0.703	P;B;P;P	0.54590	0.654;0.318;0.654;0.756	D	0.97109	0.9803	10	0.87932	D	0	-19.1914	20.6634	0.99662	0.0:1.0:0.0:0.0	.	405;444;406;433	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	I	444;433	ENSP00000405573:T444I;ENSP00000348877:T433I	ENSP00000348877:T433I	T	+	2	0	GPI	39581980	1.000000	0.71417	0.970000	0.41538	0.402000	0.30811	7.785000	0.85724	2.894000	0.99253	0.655000	0.94253	ACA		0.587	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			9	22	0	0	0	1	0	9	22				
RBAK	57786	broad.mit.edu	37	7	5104164	5104164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5104164T>C	ENST00000353796.3	+	6	1401	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Silent_p.H359H	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	359					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAAGACACATCTCACCCTGC	0.473																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1075-1077)caT>caC		RB-associated KRAB zinc finger							164.0	164.0	164.0					7																	5104164		2203	4300	6503	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104164T>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1077T>C	7.37:g.5104164T>C						RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.H359H|RBAK_ENST00000407184.1_Intron	p.H359H	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1596	+		Ovarian(82;0.0175)	359					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.1077T>C	CCDS5337.1																																																																																				0.473	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		39	38	0	0	0	1	0	39	38				
BCAS3	54828	broad.mit.edu	37	17	59112048	59112048	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59112048A>G	ENST00000390652.5	+	18	1735	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000589222.1_Silent_p.Q553Q|BCAS3_ENST00000408905.3_Silent_p.Q553Q|BCAS3_ENST00000588462.1_Silent_p.Q568Q|BCAS3_ENST00000585744.1_Silent_p.Q339Q|BCAS3_ENST00000588874.1_Silent_p.Q324Q|BCAS3_ENST00000407086.3_Silent_p.Q553Q	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCTCCACAAATTTCACCCA	0.353																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1657-1659)caA>caG		breast carcinoma amplified sequence 3							73.0	68.0	69.0					17																	59112048		1805	4081	5886	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59112048A>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1704A>G	17.37:g.59112048A>G						BCAS3_ENST00000588462.1_Silent_p.Q568Q|BCAS3_ENST00000588874.1_Silent_p.Q324Q|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Silent_p.Q568Q|BCAS3_ENST00000407086.3_Silent_p.Q553Q|BCAS3_ENST00000585744.1_Silent_p.Q339Q|BCAS3_ENST00000408905.3_Silent_p.Q553Q	p.Q553Q			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		17	1727	+			568						Silent	SNP	ENST00000390652.5	37	c.1659A>G	CCDS45749.1																																																																																				0.353	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		6	63	0	0	0	1	0	6	63				
SLC1A7	6512	broad.mit.edu	37	1	53580505	53580505	+	Missense_Mutation	SNP	G	G	A	rs141274422	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53580505G>A	ENST00000371494.4	-	3	483	c.356C>T	c.(355-357)gCg>gTg	p.A119V	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.A119V	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	119					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CTTCTGGGCCGCGCTGCCTGG	0.622																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(355-357)gCg>gTg		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)	G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	119.0	94.0	103.0		356	3.8	0.0	1	dbSNP_134	103	0,8600		0,0,4300	no	missense	SLC1A7	NM_006671.4	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	119/561	53580505	2,13004	2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53580505G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.356C>T	1.37:g.53580505G>A	ENSP00000360549:p.Ala119Val					SLC1A7_ENST00000371491.4_Missense_Mutation_p.A119V|RP11-334A14.8_ENST00000439621.1_RNA	p.A119V	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	3	483	-			119					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.356C>T	CCDS574.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547150	0.45383	4.54E-4	0.0	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.58358	0.34;0.34	5.69	3.81	0.43845	.	0.105355	0.64402	D	0.000004	T	0.46034	0.1372	L	0.42529	1.33	0.58432	D	0.999999	B;B	0.14805	0.011;0.003	B;B	0.20184	0.018;0.028	T	0.39210	-0.9625	10	0.56958	D	0.05	-20.1849	12.8735	0.57978	0.1336:0.0:0.8664:0.0	.	119;119	Q9BW45;O00341	.;EAA5_HUMAN	V	119	ENSP00000360549:A119V;ENSP00000360546:A119V	ENSP00000360546:A119V	A	-	2	0	SLC1A7	53353093	1.000000	0.71417	0.017000	0.16124	0.455000	0.32408	4.646000	0.61411	0.763000	0.33175	0.655000	0.94253	GCG		0.622	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		19	12	0	0	0	1	0	19	12				
FADS2	9415	broad.mit.edu	37	11	61608152	61608152	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608152C>A	ENST00000278840.4	+	4	1203	c.573C>A	c.(571-573)ccC>ccA	p.P191P	FADS2_ENST00000521849.1_Silent_p.P191P|FADS2_ENST00000257261.6_Silent_p.P169P|FADS2_ENST00000522056.1_Silent_p.P160P	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	191					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACAGAAAACCCAAGTGGAACC	0.532																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(571-573)ccC>ccA		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						203.0	184.0	191.0					11																	61608152		2202	4299	6501	SO:0001819	synonymous_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61608152C>A	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.573C>A	11.37:g.61608152C>A						FADS2_ENST00000257261.6_Silent_p.P169P|FADS2_ENST00000522056.1_Silent_p.P160P|FADS2_ENST00000521849.1_Silent_p.P191P	p.P191P	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			4	1203	+			191					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Silent	SNP	ENST00000278840.4	37	c.573C>A	CCDS8012.1																																																																																				0.532	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		5	105	1	0	0.217242	1	0.218821	5	105				
LINGO3	645191	broad.mit.edu	37	19	2290284	2290284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2290284G>A	ENST00000585527.1	-	1	1739	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R498C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	498						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GGCTCGGGGCGCACGGTCAGC	0.736																																						ENST00000585527.1																			0				lung(1)|urinary_tract(1)	2						c.(1492-1494)Cgc>Tgc		leucine rich repeat and Ig domain containing 3							7.0	10.0	9.0					19																	2290284		1885	3823	5708	SO:0001583	missense	645191					integral to membrane		g.chr19:2290284G>A	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1492C>T	19.37:g.2290284G>A	ENSP00000467753:p.Arg498Cys					LINGO3_ENST00000404279.1_Missense_Mutation_p.R498C	p.R498C			P0C6S8	LIGO3_HUMAN			1	1739	-			498						Missense_Mutation	SNP	ENST00000585527.1	37	c.1492C>T	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	g	14.78	2.638572	0.47153	.	.	ENSG00000220008	ENST00000404279	T	0.79033	-1.23	4.11	4.11	0.48088	Immunoglobulin-like fold (1);	.	.	.	.	T	0.70509	0.3232	L	0.58101	1.795	0.39125	D	0.961749	P	0.51449	0.945	B	0.40602	0.334	T	0.74728	-0.3567	9	0.59425	D	0.04	.	7.5141	0.27590	0.0:0.1949:0.6324:0.1726	.	498	P0C6S8	LIGO3_HUMAN	C	498	ENSP00000384979:R498C	ENSP00000384979:R498C	R	-	1	0	LINGO3	2241284	0.999000	0.42202	0.961000	0.40146	0.710000	0.40934	3.965000	0.56788	1.857000	0.53885	0.456000	0.33151	CGC		0.736	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		4	6	0	0	0	1	0	4	6				
ZNF334	55713	broad.mit.edu	37	20	45130708	45130708	+	Nonsense_Mutation	SNP	G	G	A	rs143794973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45130708G>A	ENST00000347606.4	-	5	1452	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	ZNF334_ENST00000593880.1_Nonsense_Mutation_p.R447*|ZNF334_ENST00000457685.2_Nonsense_Mutation_p.R386*	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGACTTCTTCGATGCACATTG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		23035	0.0		0.0	False		,,,				2504	0.001					ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1156-1158)Cga>Tga		zinc finger protein 334		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	115.0	119.0		1270,1156	0.2	0.1	20	dbSNP_134	119	0,8600		0,0,4300	no	stop-gained,stop-gained	ZNF334	NM_018102.3,NM_199441.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	424/681,386/643	45130708	1,13005	2203	4300	6503	SO:0001587	stop_gained	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130708G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1270C>T	20.37:g.45130708G>A	ENSP00000255129:p.Arg424*					ZNF334_ENST00000593880.1_Nonsense_Mutation_p.R447*|ZNF334_ENST00000347606.4_Nonsense_Mutation_p.R424*	p.R386*			Q9HCZ1	ZN334_HUMAN			6	2479	-		Myeloproliferative disorder(115;0.0122)	424					Q5T6U2|Q9NVW4	Nonsense_Mutation	SNP	ENST00000347606.4	37	c.1156C>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	47	13.798342	0.99763	2.27E-4	0.0	ENSG00000198185	ENST00000457685;ENST00000347606	.	.	.	3.3	0.163	0.14986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.994	0.24772	0.3345:0.0:0.6655:0.0	.	.	.	.	X	386;424	.	ENSP00000255129:R424X	R	-	1	2	ZNF334	44564115	0.031000	0.19500	0.057000	0.19452	0.972000	0.66771	1.247000	0.32815	-0.050000	0.13356	-0.229000	0.12294	CGA		0.418	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			59	91	0	0	0	1	0	59	91				
SPTLC1	10558	broad.mit.edu	37	9	94877622	94877622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94877622C>A	ENST00000262554.2	-	1	36	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	SPTLC1_ENST00000337841.4_Missense_Mutation_p.V11L|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	11					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	ACCATCTCCACCAGAACCCAC	0.657																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(31-33)Gtg>Ttg		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						34.0	37.0	36.0					9																	94877622		2198	4292	6490	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94877622C>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.31G>T	9.37:g.94877622C>A	ENSP00000262554:p.Val11Leu					SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.V11L	p.V11L	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			1	36	-			11					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.31G>T	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035964	0.75617	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.94613	-3.47;-2.05	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.10450	0.001;0.005;0.0;0.0	D	0.85967	0.1474	10	0.07990	T	0.79	-21.827	16.7892	0.85583	0.0:1.0:0.0:0.0	.	11;11;6;11	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	L	11	ENSP00000262554:V11L;ENSP00000337635:V11L	ENSP00000262554:V11L	V	-	1	0	SPTLC1	93917443	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	5.669000	0.68081	2.490000	0.84030	0.484000	0.47621	GTG		0.657	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		12	23	1	0	1.3612e-06	1	1.57881e-06	12	23				
SLC17A4	10050	broad.mit.edu	37	6	25777163	25777163	+	Missense_Mutation	SNP	T	T	C	rs150527531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25777163T>C	ENST00000377905.4	+	10	1363	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	SLC17A4_ENST00000439485.2_Missense_Mutation_p.V185A|SLC17A4_ENST00000397076.2_Missense_Mutation_p.V213A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	415					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGAGCCCTTGTTAACTTCTTG	0.498																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1243-1245)gTt>gCt		solute carrier family 17, member 4							120.0	110.0	113.0					6																	25777163		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25777163T>C	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1244T>C	6.37:g.25777163T>C	ENSP00000367137:p.Val415Ala					SLC17A4_ENST00000439485.2_Missense_Mutation_p.V185A|SLC17A4_ENST00000397076.2_Missense_Mutation_p.V213A	p.V415A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			10	1363	+			415					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.1244T>C	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	T	35	5.456334	0.96223	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.74737	0.56;-0.16;-0.87	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.390910	0.04697	N	0.415197	T	0.75184	0.3815	M	0.78916	2.43	0.20074	N	0.999938	B;D;B	0.54964	0.22;0.969;0.061	B;P;B	0.49561	0.109;0.615;0.145	T	0.64114	-0.6483	10	0.87932	D	0	.	12.5188	0.56048	0.0:0.0:0.0:1.0	.	185;213;415	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	A	415;185;213	ENSP00000367137:V415A;ENSP00000391345:V185A;ENSP00000380266:V213A	ENSP00000367137:V415A	V	+	2	0	SLC17A4	25885142	0.126000	0.22350	0.033000	0.17914	0.911000	0.54048	3.528000	0.53524	2.276000	0.75962	0.528000	0.53228	GTT		0.498	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			33	39	0	0	0	1	0	33	39				
CENPQ	55166	broad.mit.edu	37	6	49448778	49448778	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49448778T>A	ENST00000335783.3	+	6	556	c.462T>A	c.(460-462)ggT>ggA	p.G154G		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	154					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					ATGAAGAAGGTCTGGCATTAC	0.358																																						ENST00000335783.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11						c.(460-462)ggT>ggA		centromere protein Q							96.0	97.0	97.0					6																	49448778		2203	4300	6503	SO:0001819	synonymous_variant	55166				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr6:49448778T>A	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.462T>A	6.37:g.49448778T>A							p.G154G	NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN			6	556	+	Lung NSC(77;0.0128)		154					A8KAF1|Q6IN61|Q9NVS5	Silent	SNP	ENST00000335783.3	37	c.462T>A	CCDS4925.1																																																																																				0.358	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		6	57	0	0	0	1	0	6	57				
OR11H4	390442	broad.mit.edu	37	14	20711921	20711921	+	Missense_Mutation	SNP	C	C	T	rs200685446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20711921C>T	ENST00000315409.2	+	1	1024	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CGTCAAAATTCGTGAGCCAAA	0.398																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(970-972)tCg>tTg		olfactory receptor, family 11, subfamily H, member 4							58.0	61.0	60.0					14																	20711921		2198	4299	6497	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711921C>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.971C>T	14.37:g.20711921C>T	ENSP00000318997:p.Ser324Leu						p.S324L	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	1024	+	all_cancers(95;0.000888)		324					B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.971C>T	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.370000	0.11352	.	.	ENSG00000176198	ENST00000315409	T	0.05996	3.36	4.73	-0.668	0.11392	.	0.711844	0.11549	N	0.552948	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.45348	0.856	B	0.31390	0.129	T	0.44574	-0.9319	10	0.54805	T	0.06	.	4.3145	0.10986	0.2669:0.4935:0.0:0.2396	.	324	Q8NGC9	O11H4_HUMAN	L	324	ENSP00000318997:S324L	ENSP00000318997:S324L	S	+	2	0	OR11H4	19781761	0.000000	0.05858	0.453000	0.27007	0.021000	0.10359	-0.792000	0.04594	-0.021000	0.14009	-0.126000	0.14955	TCG		0.398	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			27	45	0	0	0	1	0	27	45				
ACACA	31	broad.mit.edu	37	17	35641812	35641812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35641812G>T	ENST00000394406.2	-	4	477	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	ACACA_ENST00000335166.5_Missense_Mutation_p.S18Y|ACACA_ENST00000360679.3_Missense_Mutation_p.S38Y|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000353139.5_Missense_Mutation_p.S133Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	96					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTCGTTGAGAATCTATTTT	0.388																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(397-399)tCt>tAt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						113.0	116.0	115.0					17																	35641812		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35641812G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.287C>A	17.37:g.35641812G>T	ENSP00000377928:p.Ser96Tyr					ACACA_ENST00000335166.5_Missense_Mutation_p.S18Y|ACACA_ENST00000360679.3_Missense_Mutation_p.S38Y|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000394406.2_Missense_Mutation_p.S96Y	p.S133Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			4	879	-		Breast(25;0.00157)|Ovarian(249;0.15)	96			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.398C>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518521	0.44763	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066;ENST00000394403;ENST00000451642;ENST00000413318	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03	5.63	4.66	0.58398	PreATP-grasp-like fold (1);	0.140692	0.48286	D	0.000186	D	0.82273	0.5001	N	0.08118	0	0.80722	D	1	B;B;B	0.26363	0.147;0.082;0.134	B;B;B	0.33392	0.095;0.078;0.163	T	0.78137	-0.2321	10	0.56958	D	0.05	-8.9585	5.3577	0.16071	0.271:0.0:0.729:0.0	.	133;96;38	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Y	133;38;96;120;18;18;18;96;18	ENSP00000344789:S133Y;ENSP00000353898:S38Y;ENSP00000377928:S96Y;ENSP00000335323:S18Y	ENSP00000335323:S18Y	S	-	2	0	ACACA	32715925	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.365000	0.79537	2.655000	0.90218	0.650000	0.86243	TCT		0.388	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		34	80	1	0	5.91797e-21	1	7.77867e-21	34	80				
ACAD11	84129	broad.mit.edu	37	3	132278741	132278741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132278741C>T	ENST00000264990.6	-	19	3135	c.2164G>A	c.(2164-2166)Gtt>Att	p.V722I	ACAD11_ENST00000545291.1_Missense_Mutation_p.V247I|ACAD11_ENST00000355458.3_Missense_Mutation_p.V618I	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	722					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCCCAGTCAACGATTTTGCTG	0.438																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(2164-2166)Gtt>Att		acyl-CoA dehydrogenase family, member 11							72.0	59.0	63.0					3																	132278741		2203	4299	6502	SO:0001583	missense	84129							g.chr3:132278741C>T	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2164G>A	3.37:g.132278741C>T	ENSP00000264990:p.Val722Ile					ACAD11_ENST00000545291.1_Missense_Mutation_p.V247I|ACAD11_ENST00000355458.3_Missense_Mutation_p.V618I	p.V722I	NM_032169.4	NP_115545.3					19	3135	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.2164G>A	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	4.022	0.001527	0.07819	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96334	-3.98;-3.98;-3.98	5.98	-4.75	0.03239	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.84942	0.5584	N	0.04373	-0.215	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.78669	-0.2114	9	0.02654	T	1	.	7.7897	0.29112	0.0:0.4417:0.2301:0.3281	.	722	Q709F0	ACD11_HUMAN	I	618;722;247	ENSP00000347636:V618I;ENSP00000264990:V722I;ENSP00000446263:V247I	ENSP00000264990:V722I	V	-	1	0	ACAD11	133761431	0.007000	0.16637	0.040000	0.18447	0.920000	0.55202	-0.472000	0.06623	-0.328000	0.08539	-0.300000	0.09419	GTT		0.438	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		9	20	0	0	0	1	0	9	20				
SMEK1	55671	broad.mit.edu	37	14	91947962	91947962	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91947962A>C	ENST00000554943.1	-	4	988	c.873T>G	c.(871-873)tcT>tcG	p.S291S	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.S291S|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554684.1_Silent_p.S291S			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	291					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAAAGATAAAAGAGTGAAGTG	0.338																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(871-873)tcT>tcG		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							79.0	73.0	75.0					14																	91947962		2203	4300	6503	SO:0001819	synonymous_variant	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91947962A>C	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.873T>G	14.37:g.91947962A>C						SMEK1_ENST00000337238.4_Silent_p.S291S|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Silent_p.S291S	p.S291S			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	4	1369	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	291					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Silent	SNP	ENST00000554943.1	37	c.873T>G		.	.	.	.	.	.	.	.	.	.	A	8.474	0.858291	0.17178	.	.	ENSG00000100796	ENST00000555470	.	.	.	5.87	-0.372	0.12520	.	.	.	.	.	T	0.53045	0.1772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40739	-0.9547	4	.	.	.	-8.5469	7.0679	0.25161	0.4993:0.0:0.3904:0.1103	.	.	.	.	V	86	.	.	F	-	1	0	SMEK1	91017715	0.902000	0.30710	0.982000	0.44146	0.986000	0.74619	-0.021000	0.12504	-0.361000	0.08125	-0.242000	0.12053	TTT		0.338	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		11	20	0	0	0	1	0	11	20				
RYR1	6261	broad.mit.edu	37	19	39023358	39023358	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39023358G>T	ENST00000359596.3	+	78	11241	c.11241G>T	c.(11239-11241)gaG>gaT	p.E3747D	RYR1_ENST00000355481.4_Missense_Mutation_p.E3742D|AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.E3747D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3747					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGAAGAGGAGGTTGAGGTCT	0.587																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(11224-11226)gaG>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						121.0	116.0	118.0					19																	39023358		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39023358G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11241G>T	19.37:g.39023358G>T	ENSP00000352608:p.Glu3747Asp					RYR1_ENST00000359596.3_Missense_Mutation_p.E3747D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3747D	p.E3742D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		77	11357	+	all_cancers(60;7.91e-06)		3747					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11226G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	4.500	0.092807	0.08632	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97352	-4.32;-4.31;-4.35	4.77	-1.51	0.08664	.	0.167364	0.36034	U	0.002837	D	0.89522	0.6739	N	0.16307	0.4	0.22446	N	0.999093	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.12156	0.007;0.004;0.002	T	0.80009	-0.1562	10	0.22109	T	0.4	.	4.8543	0.13552	0.5238:0.1683:0.3079:0.0	.	3747;3742;3747	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3747;3742;3747;667	ENSP00000352608:E3747D;ENSP00000347667:E3742D;ENSP00000354254:E3747D	ENSP00000347667:E3742D	E	+	3	2	RYR1	43715198	0.936000	0.31750	0.214000	0.23707	0.258000	0.26162	0.319000	0.19522	-0.221000	0.09973	-0.136000	0.14681	GAG		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	29	1	0	0.00024832	1	0.0002712	3	29				
ATP8A2	51761	broad.mit.edu	37	13	26112196	26112196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26112196C>T	ENST00000381655.2	+	7	720	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	153					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCTGTCATCCAGGTTAGCT	0.493																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(577-579)tCc>tTc		ATPase, aminophospholipid transporter, class I, type 8A, member 2							114.0	113.0	114.0					13																	26112196		1999	4182	6181	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26112196C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.578C>T	13.37:g.26112196C>T	ENSP00000371070:p.Ser193Phe					ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	p.S193F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	7	720	+		Breast(139;0.0201)|Lung SC(185;0.0225)	153					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.578C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720815	0.68959	.	.	ENSG00000132932	ENST00000381655;ENST00000255283	T;T	0.77358	-1.09;-1.09	6.15	6.15	0.99193	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.050271	0.85682	D	0.000000	D	0.94013	0.8082	H	0.99090	4.425	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.79108	0.992;0.952;0.992	D	0.95577	0.8643	10	0.87932	D	0	.	20.8387	0.99724	0.0:1.0:0.0:0.0	.	153;153;153	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	F	193;153	ENSP00000371070:S193F;ENSP00000255283:S153F	ENSP00000255283:S153F	S	+	2	0	ATP8A2	25010196	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	7.700000	0.84556	2.932000	0.99384	0.643000	0.83706	TCC		0.493	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		15	21	0	0	0	1	0	15	21				
MRPS7	51081	broad.mit.edu	37	17	73261787	73261787	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73261787C>A	ENST00000245539.6	+	5	739	c.512C>A	c.(511-513)cCt>cAt	p.P171H	MRPS7_ENST00000579002.1_Missense_Mutation_p.P200H	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	171					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCCAGGTCCCTGTACCCCTA	0.582																																						ENST00000579002.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(598-600)cCt>cAt		mitochondrial ribosomal protein S7							48.0	45.0	46.0					17																	73261787		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73261787C>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.512C>A	17.37:g.73261787C>A	ENSP00000245539:p.Pro171His					MRPS7_ENST00000245539.6_Missense_Mutation_p.P171H	p.P200H			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		4	1014	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		171					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.599C>A	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524259	0.44866	.	.	ENSG00000125445	ENST00000245539	D	0.86627	-2.15	6.07	6.07	0.98685	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96976	0.9712	10	0.87932	D	0	-18.7824	20.6593	0.99626	0.0:1.0:0.0:0.0	.	171	Q9Y2R9	RT07_HUMAN	H	171	ENSP00000245539:P171H	ENSP00000245539:P171H	P	+	2	0	MRPS7	70773382	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCT		0.582	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		12	33	1	0	0.000219431	1	0.000240782	12	33				
SLC2A14	144195	broad.mit.edu	37	12	7985401	7985401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7985401C>T	ENST00000543909.1	-	8	856	c.97G>A	c.(97-99)Gct>Act	p.A33T	SLC2A14_ENST00000539924.1_Missense_Mutation_p.A48T|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A10T|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A10T|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A33T			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	33					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AAGATCAGAGCTGGGGTGACC	0.468											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(97-99)Gct>Act		solute carrier family 2 (facilitated glucose transporter), member 14							93.0	84.0	87.0					12																	7985401		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7985401C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.97G>A	12.37:g.7985401C>T	ENSP00000440480:p.Ala33Thr		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000539924.1_Missense_Mutation_p.A48T|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A10T|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A33T|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A10T	p.A33T			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	8	856	-			33					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.97G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072523	0.08436	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383;ENST00000535587	D;D;D;D;D;D;D;D;D;D;T;D	0.88354	-1.6;-1.64;-1.6;-1.64;-1.63;-2.1;-2.08;-1.95;-1.75;-1.73;-1.23;-2.37	2.41	-1.46	0.08800	Major facilitator superfamily domain, general substrate transporter (1);	0.774362	0.12875	N	0.431947	T	0.70456	0.3226	N	0.08118	0	0.21386	N	0.999709	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.56523	-0.7965	10	0.19147	T	0.46	.	3.6797	0.08305	0.5009:0.2149:0.2842:0.0	.	48;10;33	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	T	10;33;10;33;48;10;10;10;33;33;10;10;10	ENSP00000340450:A10T;ENSP00000440480:A33T;ENSP00000407287:A10T;ENSP00000379834:A33T;ENSP00000445929:A48T;ENSP00000440043:A10T;ENSP00000438312:A10T;ENSP00000443217:A10T;ENSP00000440044:A33T;ENSP00000437653:A33T;ENSP00000442402:A10T;ENSP00000443076:A10T	ENSP00000340450:A10T	A	-	1	0	SLC2A14	7876668	0.000000	0.05858	0.437000	0.26809	0.872000	0.50106	-1.017000	0.03630	-0.163000	0.10946	0.298000	0.19748	GCT		0.468	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		19	22	0	0	0	1	0	19	22				
PPP1R32	220004	broad.mit.edu	37	11	61252177	61252177	+	Silent	SNP	C	C	T	rs142294307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61252177C>T	ENST00000338608.2	+	5	524	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PPP1R32_ENST00000432063.2_Silent_p.F133F|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	133							phosphatase binding (GO:0019902)										AGGTCCATTTCGACACCCAGG	0.642																																						ENST00000338608.2																			0											c.(397-399)ttC>ttT		protein phosphatase 1, regulatory subunit 32		C	,	1,4403	2.1+/-5.4	0,1,2201	35.0	29.0	31.0		399,399	-5.5	0.7	11	dbSNP_134	31	0,8598		0,0,4299	yes	coding-synonymous,coding-synonymous	C11orf66	NM_001170753.1,NM_145017.2	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	133/406,133/426	61252177	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	220004							g.chr11:61252177C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.399C>T	11.37:g.61252177C>T						PPP1R32_ENST00000432063.2_Silent_p.F133F|RP11-286N22.8_ENST00000544880.1_3'UTR	p.F133F	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			5	524	+			133					Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	c.399C>T	CCDS8008.1																																																																																				0.642	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		9	9	0	0	0	1	0	9	9				
NLRX1	79671	broad.mit.edu	37	11	119053929	119053929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119053929G>A	ENST00000409109.1	+	10	3296	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	PDZD3_ENST00000531114.1_5'Flank|PDZD3_ENST00000322712.4_5'Flank|NLRX1_ENST00000409991.1_Silent_p.G903G|PDZD3_ENST00000525131.1_5'Flank|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000392817.2_5'Flank|NLRX1_ENST00000292199.2_Silent_p.G903G|NLRX1_ENST00000525863.1_Intron|PDZD3_ENST00000355547.5_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	903	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGACAGAGGGGACGGCGGTGT	0.602																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2707-2709)ggG>ggA		NLR family member X1							97.0	88.0	91.0					11																	119053929		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119053929G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2709G>A	11.37:g.119053929G>A						NLRX1_ENST00000409991.1_Silent_p.G903G|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Silent_p.G903G|NLRX1_ENST00000409265.4_Intron	p.G903G			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3296	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	903			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.2709G>A	CCDS8416.1																																																																																				0.602	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		14	39	0	0	0	1	0	14	39				
SLC4A2	6522	broad.mit.edu	37	7	150772400	150772400	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150772400C>A	ENST00000485713.1	+	20	4146	c.3106C>A	c.(3106-3108)Ctg>Atg	p.L1036M	SLC4A2_ENST00000461735.1_Missense_Mutation_p.L1022M|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Missense_Mutation_p.L1036M|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.L1027M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.L954M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1036	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCTGGACCTGCTGCTCAT	0.647																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3106-3108)Ctg>Atg		solute carrier family 4 (anion exchanger), member 2							59.0	52.0	54.0					7																	150772400		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150772400C>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3106C>A	7.37:g.150772400C>A	ENSP00000419412:p.Leu1036Met					RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.L1027M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.L954M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.L1036M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.L1022M	p.L1036M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	20	4146	+			1036			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3106C>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942589	0.73672	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	5.07	4.18	0.49190	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.92361	0.7576	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.97110	0.925;1.0;1.0	D	0.93267	0.6648	10	0.87932	D	0	.	12.9976	0.58657	0.0:0.9214:0.0:0.0786	.	1027;1022;1036	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	M	1036;1036;954;1027;1022	ENSP00000419412:L1036M;ENSP00000405600:L1036M;ENSP00000311402:L954M;ENSP00000376571:L1027M;ENSP00000419164:L1022M	ENSP00000311402:L954M	L	+	1	2	SLC4A2	150403333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.798000	0.62510	1.344000	0.45657	0.561000	0.74099	CTG		0.647	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		9	42	1	0	1.58986e-06	1	1.84011e-06	9	42				
DNAH8	1769	broad.mit.edu	37	6	38893864	38893864	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38893864G>T	ENST00000359357.3	+	72	10599	c.10345G>T	c.(10345-10347)Gat>Tat	p.D3449Y	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3666Y|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3413Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3449	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACCAGGAGATGATCTCTC	0.418																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10345-10347)Gat>Tat		dynein, axonemal, heavy chain 8							144.0	139.0	141.0					6																	38893864		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38893864G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10345G>T	6.37:g.38893864G>T	ENSP00000352312:p.Asp3449Tyr					DNAH8_ENST00000441566.1_Missense_Mutation_p.D3413Y|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3666Y	p.D3449Y							72	10599	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10345G>T		.	.	.	.	.	.	.	.	.	.	G	31	5.062466	0.93898	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.69561	-0.41;-0.41;-0.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94592	0.7788	10	0.87932	D	0	.	20.1996	0.98256	0.0:0.0:1.0:0.0	.	3449	Q96JB1	DYH8_HUMAN	Y	3654;3654;3449;3413	ENSP00000333363:D3654Y;ENSP00000352312:D3449Y;ENSP00000402294:D3413Y	ENSP00000333363:D3654Y	D	+	1	0	DNAH8	39001842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.776000	0.95493	0.650000	0.86243	GAT		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	129	1	0	5.18039e-06	1	5.91835e-06	6	129				
SAMD8	142891	broad.mit.edu	37	10	76924436	76924436	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76924436G>A	ENST00000542569.1	+	3	715	c.612G>A	c.(610-612)acG>acA	p.T204T	SAMD8_ENST00000372690.3_Silent_p.T267T|SAMD8_ENST00000372687.4_Silent_p.T204T	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	204					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.T267T(1)|p.T204T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTGCCATGACGGAAGTATGTG	0.398																																						ENST00000542569.1																			2	Substitution - coding silent(2)	p.T267T(1)|p.T204T(1)	endometrium(2)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(610-612)acG>acA		sterile alpha motif domain containing 8							254.0	224.0	234.0					10																	76924436		2203	4300	6503	SO:0001819	synonymous_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76924436G>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.612G>A	10.37:g.76924436G>A						SAMD8_ENST00000372690.3_Silent_p.T267T|SAMD8_ENST00000372687.3_Silent_p.T204T	p.T204T	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			3	715	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		204					Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.612G>A	CCDS53543.1																																																																																				0.398	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		28	55	0	0	0	1	0	28	55				
SQSTM1	8878	broad.mit.edu	37	5	179250876	179250876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179250876G>A	ENST00000389805.4	+	3	498	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SQSTM1_ENST00000360718.5_Missense_Mutation_p.R23Q|SQSTM1_ENST00000402874.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R107Q|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R23Q	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	107	Interaction with PRKCZ and dimerization. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGCCGGCGGGACCACCGC	0.622																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(319-321)cGg>cAg		sequestosome 1							50.0	58.0	55.0					5																	179250876		2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179250876G>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.320G>A	5.37:g.179250876G>A	ENSP00000374455:p.Arg107Gln					SQSTM1_ENST00000402874.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R107Q|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R23Q	p.R107Q	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	498	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	107			Interaction with PRKCZ and dimerization (By similarity).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.320G>A	CCDS34317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.38|19.38	3.817462|3.817462	0.70912|0.70912	.|.	.|.	ENSG00000161011|ENSG00000161011	ENST00000454378|ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000504627;ENST00000402874;ENST00000510187;ENST00000360718	.|D;T;T;D;T;D;T;D	.|0.82803	.|-1.65;1.87;1.44;-1.65;1.51;-1.65;2.41;-1.65	5.59|5.59	4.7|4.7	0.59300|0.59300	.|.	.|0.261640	.|0.37304	.|N	.|0.002153	T|T	0.82208|0.82208	0.4987|0.4987	N|N	0.12182|0.12182	0.205|0.205	0.49915|0.49915	D|D	0.999838|0.999838	.|P;D	.|0.89917	.|0.653;1.0	.|B;D	.|0.66602	.|0.055;0.945	D|D	0.83799|0.83799	0.0235|0.0235	6|10	0.72032|0.41790	D|T	0.01|0.15	-18.8245|-18.8245	15.6094|15.6094	0.76704|0.76704	0.0:0.0:0.8614:0.1386|0.0:0.0:0.8614:0.1386	.|.	.|107;107	.|Q13501;E7EMC7	.|SQSTM_HUMAN;.	R|Q	16|23;23;23;107;130;23;107;23	.|ENSP00000366128:R23Q;ENSP00000427308:R23Q;ENSP00000394534:R23Q;ENSP00000374455:R107Q;ENSP00000425957:R130Q;ENSP00000385553:R23Q;ENSP00000424477:R107Q;ENSP00000353944:R23Q	ENSP00000408107:G16R|ENSP00000353944:R23Q	G|R	+|+	1|2	0|0	SQSTM1|SQSTM1	179183482|179183482	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.896000|0.896000	0.52359|0.52359	6.550000|6.550000	0.73905|0.73905	1.311000|1.311000	0.45024|0.45024	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.622	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			31	38	0	0	0	1	0	31	38				
PSMD3	5709	broad.mit.edu	37	17	38146435	38146435	+	Silent	SNP	C	C	T	rs189549088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38146435C>T	ENST00000264639.4	+	6	1140	c.966C>T	c.(964-966)gtC>gtT	p.V322V	PSMD3_ENST00000541736.1_Silent_p.V184V	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	322					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACACAGCTGTCGGCTTCAAAC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		17311	0.0		0.001	False		,,,				2504	0.0				Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(964-966)gtC>gtT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3							60.0	45.0	50.0					17																	38146435		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38146435C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.966C>T	17.37:g.38146435C>T						PSMD3_ENST00000541736.1_Silent_p.V184V	p.V322V	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN			6	1140	+	Colorectal(19;0.000442)		322					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.966C>T	CCDS11356.1																																																																																				0.512	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		7	16	0	0	0	1	0	7	16				
ZNF569	148266	broad.mit.edu	37	19	37904943	37904943	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37904943C>A	ENST00000316950.6	-	6	1174	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R206I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R47I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTCAGATGTCT	0.368																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(616-618)aGa>aTa		zinc finger protein 569							63.0	65.0	64.0					19																	37904943		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904943C>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.617G>T	19.37:g.37904943C>A	ENSP00000325018:p.Arg206Ile					ZNF569_ENST00000392149.2_Missense_Mutation_p.R206I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R47I	p.R206I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1174	-			206					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.617G>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731184	0.48939	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.24908	1.83;1.83	3.73	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000920	T	0.27384	0.0672	M	0.73962	2.25	0.46654	D	0.999147	B;B	0.29085	0.232;0.232	B;B	0.19666	0.026;0.026	T	0.35126	-0.9801	10	0.62326	D	0.03	.	11.8998	0.52675	0.1748:0.8252:0.0:0.0	.	47;206	Q17RR6;Q5MCW4	.;ZN569_HUMAN	I	206;47	ENSP00000325018:R206I;ENSP00000375993:R47I	ENSP00000325018:R206I	R	-	2	0	ZNF569	42596783	0.000000	0.05858	0.974000	0.42286	0.787000	0.44495	0.068000	0.14531	2.083000	0.62718	0.591000	0.81541	AGA		0.368	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		29	46	1	0	3.99451e-17	1	5.17392e-17	29	46				
MST1R	4486	broad.mit.edu	37	3	49940860	49940860	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49940860G>A	ENST00000296474.3	-	1	210	c.183C>T	c.(181-183)taC>taT	p.Y61Y	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.Y61Y	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	61	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCGCCCTCGTAGGTCACCA	0.627																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(181-183)taC>taT		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							120.0	106.0	111.0					3																	49940860		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940860G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.183C>T	3.37:g.49940860G>A						CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.Y61Y	p.Y61Y	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	210	-			61			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.183C>T	CCDS2807.1																																																																																				0.627	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			11	70	0	0	0	1	0	11	70				
BCAN	63827	broad.mit.edu	37	1	156622669	156622669	+	Missense_Mutation	SNP	G	G	A	rs148943492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156622669G>A	ENST00000329117.5	+	8	2263	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	BCAN_ENST00000361588.5_Missense_Mutation_p.V643M|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	643					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTGGCCGTGGTCCCCGC	0.602																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1927-1929)Gtg>Atg		brevican		G	MET/VAL,MET/VAL	1,4343		0,1,2171	84.0	65.0	72.0		1927,1927	3.4	1.0	1	dbSNP_134	72	0,8528		0,0,4264	yes	missense,missense	BCAN	NM_021948.4,NM_198427.1	21,21	0,1,6435	AA,AG,GG		0.0,0.023,0.0078	probably-damaging,probably-damaging	643/912,643/672	156622669	1,12871	2172	4264	6436	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622669G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1927G>A	1.37:g.156622669G>A	ENSP00000331210:p.Val643Met					BCAN_ENST00000361588.5_Missense_Mutation_p.V643M|RP11-284F21.7_ENST00000448869.1_RNA	p.V643M	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			8	2263	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		643					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1927G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683465	0.47991	2.3E-4	0.0	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.15952	2.38;2.99	4.3	3.39	0.38822	.	0.831426	0.09736	N	0.762462	T	0.13927	0.0337	N	0.24115	0.695	0.21740	N	0.99956	D;D	0.76494	0.99;0.999	P;D	0.78314	0.572;0.991	T	0.22800	-1.0206	10	0.54805	T	0.06	-5.0445	9.5187	0.39122	0.1001:0.0:0.8999:0.0	.	643;643	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	M	643	ENSP00000331210:V643M;ENSP00000354925:V643M	ENSP00000331210:V643M	V	+	1	0	BCAN	154889293	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.689000	0.46993	1.039000	0.40074	-0.374000	0.07098	GTG		0.602	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		5	74	0	0	0	1	0	5	74				
GTF2E1	2960	broad.mit.edu	37	3	120469544	120469544	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120469544C>T	ENST00000283875.5	+	2	238	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	49	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGAGGATATGCTGGAGCTGCT	0.453																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(145-147)Ctg>Ttg		general transcription factor IIE, polypeptide 1, alpha 56kDa							118.0	105.0	110.0					3																	120469544		2203	4300	6503	SO:0001819	synonymous_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469544C>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.145C>T	3.37:g.120469544C>T							p.L49L	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	238	+			49			HTH TFE/IIEalpha-type.		Q16103	Silent	SNP	ENST00000283875.5	37	c.145C>T	CCDS3002.1																																																																																				0.453	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		41	56	0	0	0	1	0	41	56				
SART1	9092	broad.mit.edu	37	11	65733943	65733943	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65733943C>A	ENST00000312397.5	+	9	1196	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	368					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGAGGAGATCCGGGCCAAGC	0.672																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1102-1104)atC>atA		squamous cell carcinoma antigen recognized by T cells							25.0	25.0	25.0					11																	65733943		2201	4295	6496	SO:0001819	synonymous_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65733943C>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1104C>A	11.37:g.65733943C>A							p.I368I	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN			9	1196	+			368					A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	c.1104C>A	CCDS31611.1																																																																																				0.672	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			11	16	1	0	2.80697e-09	1	3.39963e-09	11	16				
COG7	91949	broad.mit.edu	37	16	23404666	23404666	+	Silent	SNP	G	G	A	rs199904223		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23404666G>A	ENST00000307149.5	-	15	2075	c.1890C>T	c.(1888-1890)atC>atT	p.I630I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	630					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGTACTGCCCGATCTGAAACA	0.468																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1888-1890)atC>atT		component of oligomeric golgi complex 7							75.0	64.0	68.0					16																	23404666		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23404666G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1890C>T	16.37:g.23404666G>A						COG7_ENST00000569635.1_Intron	p.I630I	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	15	2075	-			630					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.1890C>T	CCDS10610.1																																																																																				0.468	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			15	23	0	0	0	1	0	15	23				
NPBWR1	2831	broad.mit.edu	37	8	53853034	53853034	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53853034G>A	ENST00000331251.3	+	1	2044	c.567G>A	c.(565-567)gtG>gtA	p.V189V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	189					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAGTGCGTGCTAGTCTTTC	0.687																																						ENST00000331251.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(565-567)gtG>gtA		neuropeptides B/W receptor 1							11.0	10.0	11.0					8																	53853034		2168	4235	6403	SO:0001819	synonymous_variant	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853034G>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.567G>A	8.37:g.53853034G>A							p.V189V	NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN			1	2044	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	189					Q6NTC7	Silent	SNP	ENST00000331251.3	37	c.567G>A	CCDS6151.1																																																																																				0.687	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		3	3	0	0	0	1	0	3	3				
TMPRSS15	5651	broad.mit.edu	37	21	19653399	19653399	+	Missense_Mutation	SNP	C	C	T	rs369844272		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653399C>T	ENST00000284885.3	-	22	2659	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	876	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAATGTCGTTGTCCTTT	0.343																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2626-2628)Gac>Aac		transmembrane protease, serine 15		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	195.0	185.0	188.0		2626	5.7	1.0	21		188	0,8600		0,0,4300	no	missense	TMPRSS15	NM_002772.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	876/1020	19653399	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19653399C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2626G>A	21.37:g.19653399C>T	ENSP00000284885:p.Asp876Asn						p.D876N	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			22	2659	-			876			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2626G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428309	0.83667	2.27E-4	0.0	ENSG00000154646	ENST00000284885	D	0.98747	-5.11	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.054502	0.64402	D	0.000001	D	0.99372	0.9779	M	0.93550	3.43	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	D	0.98888	1.0772	9	.	.	.	.	18.7977	0.92001	0.0:1.0:0.0:0.0	.	876	P98073	ENTK_HUMAN	N	876	ENSP00000284885:D876N	.	D	-	1	0	TMPRSS15	18575270	1.000000	0.71417	0.967000	0.41034	0.702000	0.40608	6.081000	0.71309	2.685000	0.91497	0.485000	0.47835	GAC		0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		64	110	0	0	0	1	0	64	110				
CNNM4	26504	broad.mit.edu	37	2	97427600	97427600	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97427600G>T	ENST00000377075.2	+	1	962	c.864G>T	c.(862-864)caG>caT	p.Q288H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	288	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTACCTCAGGCCCTGTGCT	0.557																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(862-864)caG>caT		cyclin M4							123.0	122.0	122.0					2																	97427600		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427600G>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.864G>T	2.37:g.97427600G>T	ENSP00000366275:p.Gln288His						p.Q288H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	962	+			288			DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.864G>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979569	0.53827	.	.	ENSG00000158158	ENST00000377075	D	0.88509	-2.39	5.03	2.16	0.27623	Domain of unknown function DUF21 (1);	0.064958	0.64402	N	0.000006	D	0.91088	0.7195	M	0.89163	3.01	0.80722	D	1	B	0.32731	0.382	B	0.44224	0.444	D	0.86437	0.1764	10	0.44086	T	0.13	-12.872	6.7499	0.23482	0.1694:0.1466:0.684:0.0	.	288	Q6P4Q7	CNNM4_HUMAN	H	288	ENSP00000366275:Q288H	ENSP00000366275:Q288H	Q	+	3	2	CNNM4	96791327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.827000	0.62723	0.136000	0.18733	-0.140000	0.14226	CAG		0.557	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		8	82	1	0	5.4927e-09	1	6.6252e-09	8	82				
WISP3	8838	broad.mit.edu	37	6	112390780	112390780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112390780G>A	ENST00000368666.2	+	5	1308	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y	TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000230529.5_Missense_Mutation_p.C341Y|WISP3_ENST00000409166.1_Missense_Mutation_p.C117Y|WISP3_ENST00000361714.1_Missense_Mutation_p.C359Y|WISP3_ENST00000368663.3_Missense_Mutation_p.C318Y|WISP3_ENST00000604763.1_Missense_Mutation_p.C341Y	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	341	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAGAGAAACTGCAGAGAACCT	0.343																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1075-1077)tGc>tAc		WNT1 inducible signaling pathway protein 3							80.0	78.0	79.0					6																	112390780		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112390780G>A	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.1022G>A	6.37:g.112390780G>A	ENSP00000357655:p.Cys341Tyr					WISP3_ENST00000604763.1_Missense_Mutation_p.C341Y|WISP3_ENST00000368666.2_Missense_Mutation_p.C341Y|WISP3_ENST00000368663.3_Missense_Mutation_p.C318Y|WISP3_ENST00000409166.1_Missense_Mutation_p.C117Y|WISP3_ENST00000230529.5_Missense_Mutation_p.C341Y	p.C359Y			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	5	1121	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	341					Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.1076G>A	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630146	0.87660	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000541491;ENST00000361714;ENST00000368663;ENST00000409166	D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84	5.33	5.33	0.75918	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.99827	1.1051	10	0.87932	D	0	-16.856	19.0257	0.92931	0.0:0.0:1.0:0.0	.	359;341	O95389-2;O95389	.;WISP3_HUMAN	Y	341;341;117;359;318;117	ENSP00000357655:C341Y;ENSP00000230529:C341Y;ENSP00000354734:C359Y;ENSP00000357652:C318Y;ENSP00000386467:C117Y	ENSP00000230529:C341Y	C	+	2	0	WISP3	112497473	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.710000	0.98732	2.506000	0.84524	0.467000	0.42956	TGC		0.343	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		8	92	0	0	0	1	0	8	92				
CASQ2	845	broad.mit.edu	37	1	116269612	116269612	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116269612C>A	ENST00000261448.5	-	6	977		c.e6+1		CASQ2_ENST00000456138.2_Splice_Site|CASQ2_ENST00000488931.1_5'Flank	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)						cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATCTCAGGCACCTTTGGTGTT	0.532																																						ENST00000261448.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.e6+1		calsequestrin 2 (cardiac muscle)																																				SO:0001630	splice_region_variant	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116269612C>A	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.737+1G>T	1.37:g.116269612C>A						CASQ2_ENST00000456138.2_Splice_Site		NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	977	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)						B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Splice_Site	SNP	ENST00000261448.5	37		CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426806	0.83667	.	.	ENSG00000118729	ENST00000261448;ENST00000456138	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6298	0.95698	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASQ2	116071135	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.330000	0.79181	2.744000	0.94065	0.650000	0.86243	.		0.532	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232	Intron	10	13	1	0	0.00010058	1	0.000111121	10	13				
PSMC5	5705	broad.mit.edu	37	17	61902614	61902614	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61902614C>T	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Missense_Mutation_p.V195I|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000580864.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGGCAGACTACAAAGATCTCT	0.498																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(583-585)Gta>Ata		FtsJ homolog 3 (E. coli)							60.0	62.0	62.0					17																	61902614		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902614C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902614C>T	Exception_encountered						p.V195I	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			7	1228	-			195					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.583G>A	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725061	0.89298	.	.	ENSG00000108592	ENST00000427159	T	0.27890	1.64	4.95	4.95	0.65309	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.41824	1.3	0.58432	D	0.999993	D	0.64830	0.994	D	0.70227	0.968	T	0.36311	-0.9753	10	0.54805	T	0.06	-12.6166	15.7178	0.77681	0.0:1.0:0.0:0.0	.	195	Q8IY81	RRMJ3_HUMAN	I	195	ENSP00000396673:V195I	ENSP00000396673:V195I	V	-	1	0	FTSJ3	59256346	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.296000	0.78790	2.571000	0.86741	0.563000	0.77884	GTA		0.498	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		21	31	0	0	0	1	0	21	31				
PORCN	64840	broad.mit.edu	37	X	48372938	48372938	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48372938A>C	ENST00000326194.6	+	9	914	c.871A>C	c.(871-873)Aat>Cat	p.N291H	PORCN_ENST00000359882.4_Missense_Mutation_p.N285H|PORCN_ENST00000537758.1_Missense_Mutation_p.N291H|PORCN_ENST00000355961.4_Missense_Mutation_p.N286H|PORCN_ENST00000367574.4_Missense_Mutation_p.N209H|PORCN_ENST00000355092.3_Missense_Mutation_p.N285H|PORCN_ENST00000361988.3_Missense_Mutation_p.N280H	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	291					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCCACTGAATGTGGAGCT	0.517																																						ENST00000367574.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(625-627)Aat>Cat		porcupine homolog (Drosophila)							105.0	74.0	84.0					X																	48372938		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48372938A>C	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.871A>C	X.37:g.48372938A>C	ENSP00000322304:p.Asn291His					PORCN_ENST00000359882.4_Missense_Mutation_p.N285H|PORCN_ENST00000355092.3_Missense_Mutation_p.N285H|PORCN_ENST00000537758.1_Missense_Mutation_p.N291H|PORCN_ENST00000361988.3_Missense_Mutation_p.N280H|PORCN_ENST00000355961.4_Missense_Mutation_p.N286H|PORCN_ENST00000326194.6_Missense_Mutation_p.N291H	p.N209H			Q9H237	PORCN_HUMAN			8	1130	+			291					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.625A>C	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235951	0.22626	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.52	3.03	0.35002	.	0.291152	0.41194	D	0.000927	T	0.50956	0.1646	N	0.12887	0.27	0.33811	D	0.627882	B;B;B;B;B	0.19445	0.036;0.0;0.003;0.036;0.004	B;B;B;B;B	0.17098	0.017;0.003;0.014;0.01;0.003	T	0.50206	-0.8855	10	0.25751	T	0.34	-2.6075	6.0762	0.19917	0.7504:0.1604:0.0892:0.0	.	285;291;209;280;286	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	H	285;291;209;286;280;291;285	ENSP00000352946:N285H;ENSP00000446401:N291H;ENSP00000356546:N209H;ENSP00000348233:N286H;ENSP00000354978:N280H;ENSP00000322304:N291H;ENSP00000347207:N285H	ENSP00000322304:N291H	N	+	1	0	PORCN	48257882	0.998000	0.40836	0.957000	0.39632	0.969000	0.65631	2.325000	0.43840	0.740000	0.32651	0.381000	0.24937	AAT		0.517	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		7	57	0	0	0	1	0	7	57				
ST8SIA2	8128	broad.mit.edu	37	15	93007423	93007423	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007423C>T	ENST00000268164.3	+	6	1173	c.936C>T	c.(934-936)ctC>ctT	p.L312L	ST8SIA2_ENST00000539113.1_Silent_p.L291L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	312					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAATCTACCTCTACGGCTTCT	0.522																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(934-936)ctC>ctT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							64.0	58.0	60.0					15																	93007423		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007423C>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.936C>T	15.37:g.93007423C>T						ST8SIA2_ENST00000539113.1_Silent_p.L291L	p.L312L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1173	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		312					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.936C>T	CCDS10372.1																																																																																				0.522	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		8	13	0	0	0	1	0	8	13				
POT1	25913	broad.mit.edu	37	7	124503570	124503570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124503570G>A	ENST00000357628.3	-	8	978	c.380C>T	c.(379-381)aCt>aTt	p.T127I	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	127					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGTCCTCAGTAGTGAAGTT	0.448																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(379-381)aCt>aTt		protection of telomeres 1							157.0	144.0	148.0					7																	124503570		2203	4299	6502	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503570G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.380C>T	7.37:g.124503570G>A	ENSP00000350249:p.Thr127Ile					POT1_ENST00000393329.1_5'UTR	p.T127I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			8	978	-			127					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.380C>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539753	0.27563	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T	0.44083	0.93	5.44	3.62	0.41486	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	1.151430	0.06124	N	0.669407	T	0.29588	0.0738	N	0.22421	0.69	0.18873	N	0.999982	B	0.16166	0.016	B	0.12156	0.007	T	0.19224	-1.0312	10	0.39692	T	0.17	.	5.1824	0.15167	0.0811:0.1455:0.6194:0.1539	.	127	Q9NUX5	POTE1_HUMAN	I	127;127;127;127;126	ENSP00000350249:T127I	ENSP00000265391:T126I	T	-	2	0	POT1	124290806	0.001000	0.12720	0.142000	0.22268	0.979000	0.70002	1.024000	0.30077	1.273000	0.44346	0.650000	0.86243	ACT		0.448	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			38	127	0	0	0	1	0	38	127				
OTOGL	283310	broad.mit.edu	37	12	80647271	80647271	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80647271C>T	ENST00000547103.1	+	13	1290	c.1284C>T	c.(1282-1284)tgC>tgT	p.C428C	OTOGL_ENST00000458043.2_Silent_p.C428C			Q3ZCN5	OTOGL_HUMAN	otogelin-like	428	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGGGACTTGCATCTCCTTGG	0.333																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1282-1284)tgC>tgT		otogelin-like							171.0	160.0	163.0					12																	80647271		1834	4086	5920	SO:0001819	synonymous_variant	283310							g.chr12:80647271C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1284C>T	12.37:g.80647271C>T						OTOGL_ENST00000547103.1_Silent_p.C428C	p.C428C	NM_173591.3	NP_775862.3					13	1290	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.1284C>T																																																																																					0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		15	37	0	0	0	1	0	15	37				
STARD7	56910	broad.mit.edu	37	2	96858172	96858172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96858172C>A	ENST00000337288.5	-	6	1161	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	260	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CTGACGAATTCTGGAGACTCT	0.428																																						ENST00000337288.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(778-780)Gaa>Taa		StAR-related lipid transfer (START) domain containing 7							184.0	178.0	180.0					2																	96858172		2203	4300	6503	SO:0001587	stop_gained	56910					mitochondrion		g.chr2:96858172C>A	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.778G>T	2.37:g.96858172C>A	ENSP00000338030:p.Glu260*					STARD7_ENST00000462501.1_5'UTR	p.E260*	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN			6	1161	-			260			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Nonsense_Mutation	SNP	ENST00000337288.5	37	c.778G>T	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	40	8.104679	0.98657	.	.	ENSG00000084090	ENST00000337288	.	.	.	5.91	5.91	0.95273	.	0.099352	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8885	15.7986	0.78433	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000338030:E260X	E	-	1	0	STARD7	96221899	0.999000	0.42202	0.971000	0.41717	0.991000	0.79684	4.119000	0.57891	2.793000	0.96121	0.655000	0.94253	GAA		0.428	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			9	133	1	0	1.08611e-07	1	1.2824e-07	9	133				
NR1I2	8856	broad.mit.edu	37	3	119530454	119530454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119530454G>T	ENST00000337940.4	+	4	565	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W	NR1I2_ENST00000466380.1_Missense_Mutation_p.G134W|NR1I2_ENST00000393716.2_Missense_Mutation_p.G134W	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	134	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	TGAACGGACAGGGACTCAGCC	0.582																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(400-402)Ggg>Tgg		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						106.0	99.0	101.0					3																	119530454		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119530454G>T	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.517G>T	3.37:g.119530454G>T	ENSP00000336528:p.Gly173Trp					NR1I2_ENST00000337940.4_Missense_Mutation_p.G173W|NR1I2_ENST00000466380.1_Missense_Mutation_p.G134W	p.G134W	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	4	2239	+			134			Hinge.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.400G>T	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	5.603	0.296058	0.10622	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.91740	-2.89;-2.83;-2.9	4.91	1.16	0.20824	Nuclear hormone receptor, ligand-binding (1);	2.475520	0.01500	N	0.017458	D	0.92215	0.7531	L	0.50333	1.59	0.09310	N	1	P;P;P	0.47106	0.671;0.89;0.744	B;B;P	0.50754	0.267;0.293;0.649	T	0.78954	-0.2000	10	0.66056	D	0.02	.	5.4565	0.16594	0.2514:0.1466:0.602:0.0	.	134;173;157	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	W	134;134;173	ENSP00000377319:G134W;ENSP00000420297:G134W;ENSP00000336528:G173W	ENSP00000336528:G173W	G	+	1	0	NR1I2	121013144	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.099000	0.15210	0.029000	0.15352	-0.229000	0.12294	GGG		0.582	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			3	16	1	0	0.004672	1	0.0049138	3	16				
OBSCN	84033	broad.mit.edu	37	1	228487104	228487104	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487104G>A	ENST00000422127.1	+	43	11703				OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.S4452N|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.S1142N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAAATACAGCCTGAGACAA	0.572																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13354-13356)aGc>aAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							133.0	114.0	119.0					1																	228487104		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228487104G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+4360G>A	1.37:g.228487104G>A						OBSCN_ENST00000366707.4_Missense_Mutation_p.S1142N|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	p.S4452N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			50	13429	+		Prostate(94;0.0405)	3495			Ig-like 46.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13355G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260837	0.59431	.	.	ENSG00000154358	ENST00000366707	T	0.66815	-0.23	4.45	4.45	0.53987	.	.	.	.	.	T	0.50103	0.1596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43702	-0.9375	6	0.13470	T	0.59	.	4.0749	0.09899	0.1806:0.0:0.6072:0.2122	.	.	.	.	N	1142	ENSP00000355668:S1142N	ENSP00000355668:S1142N	S	+	2	0	OBSCN	226553727	0.000000	0.05858	0.974000	0.42286	0.402000	0.30811	0.915000	0.28638	2.299000	0.77371	0.561000	0.74099	AGC		0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		48	36	0	0	0	1	0	48	36				
EPHA4	2043	broad.mit.edu	37	2	222321357	222321357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222321357G>T	ENST00000281821.2	-	7	1620	c.1579C>A	c.(1579-1581)Ccc>Acc	p.P527T	EPHA4_ENST00000392071.4_Missense_Mutation_p.P476T|EPHA4_ENST00000409938.1_Missense_Mutation_p.P527T|EPHA4_ENST00000409854.1_Missense_Mutation_p.P527T	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	527	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACCTCCAAGGGCTCACTGAAG	0.483																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1579-1581)Ccc>Acc		EPH receptor A4							143.0	132.0	136.0					2																	222321357		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222321357G>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1579C>A	2.37:g.222321357G>T	ENSP00000281821:p.Pro527Thr					EPHA4_ENST00000392071.4_Missense_Mutation_p.P476T|EPHA4_ENST00000409854.1_Missense_Mutation_p.P527T|EPHA4_ENST00000409938.1_Missense_Mutation_p.P527T	p.P527T	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	7	1620	-		Renal(207;0.0183)	527			Fibronectin type-III 2.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1579C>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900225	0.72754	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.91	5.91	0.95273	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	L	0.38953	1.18	0.80722	D	1	D	0.59357	0.985	P	0.51742	0.678	T	0.52320	-0.8591	10	0.39692	T	0.17	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	527	P54764	EPHA4_HUMAN	T	527;527;527;476	ENSP00000281821:P527T;ENSP00000386276:P527T;ENSP00000386829:P527T;ENSP00000375923:P476T	ENSP00000281821:P527T	P	-	1	0	EPHA4	222029601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.793000	0.96121	0.655000	0.94253	CCC		0.483	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			16	35	1	0	2.35188e-11	1	2.93101e-11	16	35				
TTC3	7267	broad.mit.edu	37	21	38569870	38569870	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38569870G>T	ENST00000399017.2	+	43	8326		c.e43-1		TTC3_ENST00000479930.1_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTCCCTTTCAGCACTGAGCTT	0.378																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.e43-1		tetratricopeptide repeat domain 3							60.0	59.0	59.0					21																	38569870		2203	4300	6503	SO:0001630	splice_region_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38569870G>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5580-1G>T	21.37:g.38569870G>T						TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000479930.1_Splice_Site		NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			43	8326	+		Myeloproliferative disorder(46;0.0412)						A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Splice_Site	SNP	ENST00000399017.2	37		CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436249	0.43224	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749;ENST00000428693	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7808	0.69766	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC3	37491740	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	5.059000	0.64306	2.555000	0.86185	0.655000	0.94253	.		0.378	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		Intron	20	44	1	0	4.63292e-17	1	5.99748e-17	20	44				
STAB1	23166	broad.mit.edu	37	3	52556370	52556370	+	Missense_Mutation	SNP	G	G	A	rs141937769		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556370G>A	ENST00000321725.6	+	60	6566	c.6490G>A	c.(6490-6492)Gca>Aca	p.A2164T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2164	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAGTGCCACGCAGGCTACGT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18328	0.0		0.0	False		,,,				2504	0.001					ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6490-6492)Gca>Aca		stabilin 1		G	THR/ALA	0,4406		0,0,2203	67.0	70.0	69.0		6490	2.7	0.1	3	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2164/2571	52556370	1,13005	2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556370G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6490G>A	3.37:g.52556370G>A	ENSP00000312946:p.Ala2164Thr						p.A2164T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	60	6566	+			2164			EGF-like 16.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6490G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	6.727	0.502821	0.12822	0.0	1.16E-4	ENSG00000010327	ENST00000321725	T	0.42513	0.97	5.58	2.69	0.31865	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.918790	0.09376	N	0.810698	T	0.24661	0.0598	N	0.21508	0.67	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.12156	0.005;0.007	T	0.25606	-1.0127	10	0.22109	T	0.4	.	2.8421	0.05533	0.2217:0.1231:0.5287:0.1265	.	51;2164	B3KSK0;Q9NY15	.;STAB1_HUMAN	T	2164	ENSP00000312946:A2164T	ENSP00000312946:A2164T	A	+	1	0	STAB1	52531410	0.000000	0.05858	0.096000	0.21009	0.345000	0.29048	0.116000	0.15561	0.701000	0.31803	0.549000	0.68633	GCA		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		13	33	0	0	0	1	0	13	33				
TRPM1	4308	broad.mit.edu	37	15	31318475	31318475	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31318475C>A	ENST00000256552.6	-	27	3644		c.e27-1		TRPM1_ENST00000542188.1_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGAAGAGCTCTGTGTGAAGG	0.512																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.e26-1		transient receptor potential cation channel, subfamily M, member 1							53.0	52.0	53.0					15																	31318475		2050	4204	6254	SO:0001630	splice_region_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31318475C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3497-1G>T	15.37:g.31318475C>A						RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000558755.1_RNA		NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	3861	-		all_lung(180;1.92e-11)							Splice_Site	SNP	ENST00000256552.6	37		CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853309	0.71719	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7537	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM1	29105767	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.442000	0.80503	2.736000	0.93811	0.591000	0.81541	.		0.512	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	Intron	9	16	1	0	0.307466	1	0.308846	9	16				
KRTAP10-2	386679	broad.mit.edu	37	21	45970949	45970949	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45970949A>G	ENST00000391621.1	-	1	439	c.393T>C	c.(391-393)tgT>tgC	p.C131C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	131	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						AGGAAGAGGCACAGCAAGCTG	0.627																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(391-393)tgT>tgC		keratin associated protein 10-2							101.0	108.0	106.0					21																	45970949		2203	4300	6503	SO:0001819	synonymous_variant	386679					keratin filament		g.chr21:45970949A>G	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.393T>C	21.37:g.45970949A>G						TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	p.C131C	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	439	-			131			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Silent	SNP	ENST00000391621.1	37	c.393T>C	CCDS42955.1																																																																																				0.627	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			12	84	0	0	0	1	0	12	84				
IGF2R	3482	broad.mit.edu	37	6	160453618	160453618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160453618C>T	ENST00000356956.1	+	8	1066	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	306					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AATCCAACTGCCGCTATGAAA	0.428																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(916-918)tgC>tgT		insulin-like growth factor 2 receptor							86.0	83.0	84.0					6																	160453618		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160453618C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.918C>T	6.37:g.160453618C>T							p.C306C	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	8	1066	+		Breast(66;0.000777)|Ovarian(120;0.0305)	306					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.918C>T	CCDS5273.1																																																																																				0.428	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		36	52	0	0	0	1	0	36	52				
MORC3	23515	broad.mit.edu	37	21	37710068	37710068	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710068T>C	ENST00000400485.1	+	4	360	c.284T>C	c.(283-285)gTc>gCc	p.V95A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	95					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AATGGTCATGTCCCAGTTGGA	0.353																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(283-285)gTc>gCc		MORC family CW-type zinc finger 3							90.0	79.0	82.0					21																	37710068		1830	4081	5911	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37710068T>C	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.284T>C	21.37:g.37710068T>C	ENSP00000383333:p.Val95Ala					MORC3_ENST00000487909.1_3'UTR	p.V95A	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			4	360	+			95					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.284T>C	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635737	0.47049	.	.	ENSG00000159256	ENST00000400485	D	0.94576	-3.46	5.21	4.05	0.47172	ATPase-like, ATP-binding domain (2);	0.187242	0.45361	D	0.000366	D	0.89901	0.6849	N	0.25426	0.745	0.48087	D	0.999586	B	0.29766	0.256	B	0.37989	0.262	D	0.84407	0.0563	10	0.28530	T	0.3	-11.2373	8.6044	0.33764	0.0:0.1504:0.0:0.8496	.	95	Q14149	MORC3_HUMAN	A	95	ENSP00000383333:V95A	ENSP00000383333:V95A	V	+	2	0	MORC3	36631938	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	3.170000	0.50816	0.913000	0.36797	0.482000	0.46254	GTC		0.353	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		32	41	0	0	0	1	0	32	41				
USP19	10869	broad.mit.edu	37	3	49153548	49153548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49153548C>T	ENST00000398888.2	-	9	1418	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	USP19_ENST00000453664.1_Missense_Mutation_p.R458H|USP19_ENST00000434032.2_Missense_Mutation_p.R468H|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.R405H|USP19_ENST00000398896.1_Missense_Mutation_p.R173H|USP19_ENST00000417901.1_Missense_Mutation_p.R468H|USP19_ENST00000398892.3_Missense_Mutation_p.R405H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	367	CS 2. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGTCGATGCGAGAAGCCGT	0.572																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1372-1374)cGc>cAc		ubiquitin specific peptidase 19							34.0	36.0	36.0					3																	49153548		2046	4207	6253	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153548C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1100G>A	3.37:g.49153548C>T	ENSP00000381863:p.Arg367His					USP19_ENST00000398896.1_Missense_Mutation_p.R173H|USP19_ENST00000398892.3_Missense_Mutation_p.R405H|USP19_ENST00000417901.1_Missense_Mutation_p.R468H|USP19_ENST00000398888.2_Missense_Mutation_p.R367H|USP19_ENST00000434032.2_Missense_Mutation_p.R468H|USP19_ENST00000398898.2_Missense_Mutation_p.R405H	p.R458H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	10	1691	-			367					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1373G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456101	0.84209	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.92	5.92	0.95590	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.000000	0.56097	D	0.000024	T	0.36663	0.0975	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.999;0.996;0.995;0.985	T	0.01312	-1.1388	10	0.87932	D	0	-18.3872	19.9198	0.97084	0.0:1.0:0.0:0.0	.	531;468;458;367;405;453;173	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	H	173;405;468;458;405;367;468;453;453	ENSP00000381870:R173H;ENSP00000381872:R405H;ENSP00000395260:R468H;ENSP00000400090:R458H;ENSP00000381867:R405H;ENSP00000381863:R367H;ENSP00000401197:R468H;ENSP00000303503:R453H	ENSP00000303503:R453H	R	-	2	0	USP19	49128552	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.778000	0.68940	2.818000	0.97014	0.655000	0.94253	CGC		0.572	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		18	18	0	0	0	1	0	18	18				
DAB2IP	153090	broad.mit.edu	37	9	124525895	124525895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124525895C>T	ENST00000408936.3	+	7	1464	c.1282C>T	c.(1282-1284)Cta>Tta	p.L428L	DAB2IP_ENST00000309989.1_Silent_p.L304L|DAB2IP_ENST00000259371.2_Silent_p.L400L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	428	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACCTCAAGCTAGTGGGCCA	0.637																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1282-1284)Cta>Tta		DAB2 interacting protein							80.0	55.0	64.0					9																	124525895		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124525895C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1282C>T	9.37:g.124525895C>T						DAB2IP_ENST00000259371.2_Silent_p.L400L|DAB2IP_ENST00000309989.1_Silent_p.L304L	p.L428L			Q5VWQ8	DAB2P_HUMAN			7	1464	+			428			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.1282C>T																																																																																					0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		5	13	0	0	0	1	0	5	13				
CCAR1	55749	broad.mit.edu	37	10	70531163	70531163	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70531163C>T	ENST00000265872.6	+	18	2618	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G	CCAR1_ENST00000535016.1_Silent_p.G818G|CCAR1_ENST00000543719.1_Silent_p.G818G	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	833	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						gaaaatcaggcgatgataaag	0.318																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(2497-2499)ggC>ggT		cell division cycle and apoptosis regulator 1							56.0	53.0	54.0					10																	70531163		2201	4290	6491	SO:0001819	synonymous_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70531163C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2499C>T	10.37:g.70531163C>T						CCAR1_ENST00000535016.1_Silent_p.G818G|CCAR1_ENST00000543719.1_Silent_p.G818G	p.G833G	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			18	2618	+			833			Glu-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	c.2499C>T	CCDS7282.1																																																																																				0.318	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		8	11	0	0	0	1	0	8	11				
PLCL1	5334	broad.mit.edu	37	2	198948636	198948636	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198948636A>G	ENST00000428675.1	+	2	793	c.395A>G	c.(394-396)aAc>aGc	p.N132S	PLCL1_ENST00000437704.2_Missense_Mutation_p.N34S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	132	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGCATTTACAACCGTTTTTTC	0.443																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(394-396)aAc>aGc		phospholipase C-like 1	Quinacrine(DB01103)						73.0	70.0	71.0					2																	198948636		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948636A>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.395A>G	2.37:g.198948636A>G	ENSP00000402861:p.Asn132Ser					PLCL1_ENST00000437704.2_Missense_Mutation_p.N34S	p.N132S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	793	+			132			Interaction with PPP1C.|PH.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.395A>G	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074126	0.36566	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18174	2.23;2.23	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	L	0.27053	0.805	0.43271	D	0.995227	B;B	0.13145	0.007;0.007	B;B	0.16722	0.016;0.009	T	0.17048	-1.0382	9	.	.	.	.	10.5495	0.45079	0.928:0.0:0.072:0.0	.	132;58	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	132;34	ENSP00000402861:N132S;ENSP00000414138:N34S	.	N	+	2	0	PLCL1	198656881	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.317000	0.72862	2.288000	0.76882	0.533000	0.62120	AAC		0.443	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		8	25	0	0	0	1	0	8	25				
ZNF540	163255	broad.mit.edu	37	19	38090600	38090600	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38090600G>T	ENST00000592533.1	+	3	415	c.83G>T	c.(82-84)aGg>aTg	p.R28M	ZNF540_ENST00000587220.1_3'UTR|ZNF540_ENST00000343599.5_Missense_Mutation_p.R28M|ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000589117.1_Missense_Mutation_p.R28M|ZNF540_ENST00000316433.4_Missense_Mutation_p.R28M	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTACCCAGAGGAAATTGTAC	0.413																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(82-84)aGg>aTg		zinc finger protein 540							186.0	189.0	188.0					19																	38090600		2203	4300	6503	SO:0001583	missense	163255							g.chr19:38090600G>T	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.83G>T	19.37:g.38090600G>T	ENSP00000466274:p.Arg28Met					ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000343599.5_Missense_Mutation_p.R28M|ZNF540_ENST00000587220.1_3'UTR|ZNF540_ENST00000589117.1_Missense_Mutation_p.R28M|ZNF540_ENST00000316433.4_Missense_Mutation_p.R28M	p.R28M	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	415	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.83G>T	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414817	0.62511	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.03035	4.07;4.07	1.78	1.78	0.24846	Krueppel-associated box (4);	.	.	.	.	T	0.16514	0.0397	M	0.84846	2.72	0.19775	N	0.999952	D;D	0.71674	0.998;0.998	D;D	0.73380	0.966;0.98	T	0.02758	-1.1114	9	0.62326	D	0.03	.	7.4541	0.27255	0.0:0.0:1.0:0.0	.	28;28	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	M	28	ENSP00000324598:R28M;ENSP00000343768:R28M	ENSP00000324598:R28M	R	+	2	0	ZNF540	42782440	0.593000	0.26840	0.052000	0.19188	0.880000	0.50808	0.068000	0.14531	0.896000	0.36366	0.305000	0.20034	AGG		0.413	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		11	86	1	0	3.07112e-06	1	3.52574e-06	11	86				
MDN1	23195	broad.mit.edu	37	6	90468059	90468059	+	Missense_Mutation	SNP	G	G	A	rs566766469		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90468059G>A	ENST00000369393.3	-	19	2732	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MDN1_ENST00000428876.1_Missense_Mutation_p.R873W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	873					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAGGATGCCGAACCAGTGGC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17643	0.0		0.0	False		,,,				2504	0.001					ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2617-2619)Cgg>Tgg		MDN1, midasin homolog (yeast)							49.0	47.0	48.0					6																	90468059		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90468059G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2617C>T	6.37:g.90468059G>A	ENSP00000358400:p.Arg873Trp					MDN1_ENST00000428876.1_Missense_Mutation_p.R873W	p.R873W			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	19	2732	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	873					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2617C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956500	0.73902	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.55413	0.52;0.52;0.52	5.85	5.85	0.93711	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77555	-0.2544	10	0.66056	D	0.02	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	800;873	Q5T795;Q9NU22	.;MDN1_HUMAN	W	873;873;800	ENSP00000358400:R873W;ENSP00000413970:R873W;ENSP00000409664:R800W	ENSP00000358400:R873W	R	-	1	2	MDN1	90524780	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.175000	0.94831	2.767000	0.95098	0.563000	0.77884	CGG		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	8	0	0	0	1	0	6	8				
NOS1AP	9722	broad.mit.edu	37	1	162270451	162270451	+	Missense_Mutation	SNP	C	C	T	rs201591597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162270451C>T	ENST00000361897.5	+	4	701	c.299C>T	c.(298-300)aCg>aTg	p.T100M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T95M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	100	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGGAATGGACGTGGGATGAG	0.498																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(298-300)aCg>aTg		nitric oxide synthase 1 (neuronal) adaptor protein							151.0	146.0	148.0					1																	162270451		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162270451C>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.299C>T	1.37:g.162270451C>T	ENSP00000355133:p.Thr100Met					NOS1AP_ENST00000530878.1_Missense_Mutation_p.T95M	p.T100M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		4	701	+	all_hematologic(112;0.203)		100			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.299C>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880863	0.72294	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.19394	2.15;2.49	5.32	5.32	0.75619	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.144010	0.64402	D	0.000006	T	0.10551	0.0258	L	0.38838	1.175	.	.	.	P;P;P	0.52577	0.954;0.489;0.798	B;B;B	0.41271	0.352;0.327;0.269	T	0.03684	-1.1013	9	0.56958	D	0.05	.	14.5002	0.67716	0.0:1.0:0.0:0.0	.	95;95;100	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	M	95;100	ENSP00000431586:T95M;ENSP00000355133:T100M	ENSP00000355133:T100M	T	+	2	0	NOS1AP	160537075	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.477000	0.66799	2.482000	0.83794	0.650000	0.86243	ACG		0.498	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		37	55	0	0	0	1	0	37	55				
DKC1	1736	broad.mit.edu	37	X	153993731	153993731	+	Missense_Mutation	SNP	G	G	A	rs372511229		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153993731G>A	ENST00000369550.5	+	3	307	c.97G>A	c.(97-99)Gct>Act	p.A33T		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	33					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACAACACGCTGAAGAATT	0.388									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(97-99)Gct>Act		dyskeratosis congenita 1, dyskerin		G	THR/ALA,THR/ALA	0,3835		0,0,0,1632,571	159.0	153.0	155.0		97,97	3.0	0.1	X		155	1,6727		0,0,1,2428,1871	no	missense,missense	DKC1	NM_001363.3,NM_001142463.1	58,58	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	benign,benign	33/515,33/510	153993731	1,10562	2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153993731G>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.97G>A	X.37:g.153993731G>A	ENSP00000358563:p.Ala33Thr						p.A33T	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			3	307	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		33					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.97G>A	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.260|6.260	0.416080|0.416080	0.11870|0.11870	0.0|0.0	1.49E-4|1.49E-4	ENSG00000130826|ENSG00000130826	ENST00000369550;ENST00000413910|ENST00000437719	D;D|.	0.97352|.	-4.29;-4.35|.	5.83|5.83	3.03|3.03	0.35002|0.35002	.|.	0.690360|.	0.15662|.	N|.	0.250824|.	T|T	0.24122|0.24122	0.0584|0.0584	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.21143|0.21143	-1.0254|-1.0254	10|5	0.13853|.	T|.	0.58|.	-3.6385|-3.6385	7.9739|7.9739	0.30143|0.30143	0.2877:0.0:0.7123:0.0|0.2877:0.0:0.7123:0.0	.|.	33;33|.	A8MUT5;O60832|.	.;DKC1_HUMAN|.	T|H	33|18	ENSP00000358563:A33T;ENSP00000400542:A33T|.	ENSP00000358563:A33T|.	A|R	+|+	1|2	0|0	DKC1|DKC1	153646925|153646925	0.034000|0.034000	0.19679|0.19679	0.076000|0.076000	0.20297|0.20297	0.122000|0.122000	0.20287|0.20287	2.515000|2.515000	0.45512|0.45512	0.555000|0.555000	0.29079|0.29079	0.600000|0.600000	0.82982|0.82982	GCT|CGC		0.388	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		85	150	0	0	0	1	0	85	150				
ZNF271	10778	broad.mit.edu	37	18	32886939	32886939	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32886939A>G	ENST00000399070.3	+	0	1333					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						GTGCAATAAAATGTTTAGTCG	0.373																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12															61.0	62.0	62.0					18																	32886939		2203	4300	6503			0							g.chr18:32886939A>G	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886939A>G								NR_024565.1|NR_024566.1						0	1333	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																						0.373	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		3	48	0	0	0	1	0	3	48				
DPY19L2P2	349152	broad.mit.edu	37	7	102915988	102915988	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102915988G>A	ENST00000312132.4	-	0	791							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AAACCTAACCGTTTCAATGCA	0.398																																						ENST00000312132.4																			0																																																			0							g.chr7:102915988G>A	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102915988G>A														0	791	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.398	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		28	21	0	0	0	1	0	28	21				
HSD17B11	51170	broad.mit.edu	37	4	88258453	88258453	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88258453A>G	ENST00000358290.4	-	7	1193	c.878T>C	c.(877-879)aTt>aCt	p.I293T	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.I249T	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	293					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TTTATATCCAATAACTGCATC	0.313																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(877-879)aTt>aCt		hydroxysteroid (17-beta) dehydrogenase 11							108.0	105.0	106.0					4																	88258453		2203	4298	6501	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88258453A>G	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.878T>C	4.37:g.88258453A>G	ENSP00000351035:p.Ile293Thr					RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.I249T	p.I293T	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	7	1193	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	293					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.878T>C	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657794	0.29425	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;D	0.85013	-1.93;-1.63	5.49	5.49	0.81192	.	0.299525	0.29473	N	0.012044	T	0.75525	0.3861	L	0.34521	1.04	0.31598	N	0.653048	P	0.42078	0.77	B	0.36186	0.219	T	0.76143	-0.3067	10	0.18710	T	0.47	.	13.1068	0.59252	1.0:0.0:0.0:0.0	.	293	Q8NBQ5	DHB11_HUMAN	T	293;249	ENSP00000351035:I293T;ENSP00000423775:I249T	ENSP00000351035:I293T	I	-	2	0	HSD17B11	88477477	0.972000	0.33761	0.973000	0.42090	0.235000	0.25334	3.195000	0.51013	2.096000	0.63516	0.460000	0.39030	ATT		0.313	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		16	31	0	0	0	1	0	16	31				
FNDC5	252995	broad.mit.edu	37	1	33333375	33333375	+	Missense_Mutation	SNP	C	C	T	rs200824057		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33333375C>T	ENST00000373471.3	-	4	544	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	FNDC5_ENST00000496770.1_Missense_Mutation_p.V85M|FNDC5_ENST00000609187.1_Missense_Mutation_p.V85M	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	160					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAGGACCACGACGATGATC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18574	0.0		0.001	False		,,,				2504	0.0					ENST00000373471.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(253-255)Gtg>Atg		fibronectin type III domain containing 5							197.0	157.0	170.0					1																	33333375		2203	4300	6503	SO:0001583	missense	252995					integral to membrane|peroxisomal membrane		g.chr1:33333375C>T	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.478G>A	1.37:g.33333375C>T	ENSP00000362570:p.Val160Met						p.V85M	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN			4	544	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	144			Fibronectin type-III.		A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Missense_Mutation	SNP	ENST00000373471.3	37	c.253G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	31	5.060246	0.93846	.	.	ENSG00000160097	ENST00000373470;ENST00000373471	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	L	0.58101	1.795	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.964;0.992	T	0.79215	-0.1895	9	0.72032	D	0.01	-12.0272	18.6218	0.91323	0.0:1.0:0.0:0.0	.	85;144	Q8NAU1-3;Q8NAU1	.;FNDC5_HUMAN	M	85	.	ENSP00000362569:V85M	V	-	1	0	FNDC5	33105962	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	5.463000	0.66712	2.494000	0.84150	0.655000	0.94253	GTG		0.552	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		6	18	0	0	0	1	0	6	18				
TFR2	7036	broad.mit.edu	37	7	100218520	100218520	+	Missense_Mutation	SNP	G	G	A	rs573782227	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100218520G>A	ENST00000462107.1	-	19	2653	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	TFR2_ENST00000544242.1_Missense_Mutation_p.A330V|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.A789V			Q9UP52	TFR2_HUMAN	transferrin receptor 2	789					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CCCGCTAAGCGCATTGGCTGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		17764	0.0		0.0	False		,,,				2504	0.002					ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2365-2367)gCg>gTg		transferrin receptor 2							51.0	46.0	48.0					7																	100218520		2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100218520G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2366C>T	7.37:g.100218520G>A	ENSP00000420525:p.Ala789Val					TFR2_ENST00000223051.3_Missense_Mutation_p.A789V|TFR2_ENST00000544242.1_Missense_Mutation_p.A330V|TFR2_ENST00000431692.1_3'UTR	p.A789V			Q9UP52	TFR2_HUMAN			19	2653	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		789					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.2366C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133791	0.94517	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.58652	0.32;0.32;0.32	5.54	5.54	0.83059	Transferrin receptor-like, dimerisation domain (3);	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75045	-0.3456	10	0.72032	D	0.01	-16.1091	17.0271	0.86450	0.0:0.0:1.0:0.0	.	789	Q9UP52	TFR2_HUMAN	V	789;789;330	ENSP00000223051:A789V;ENSP00000420525:A789V;ENSP00000443656:A330V	ENSP00000223051:A789V	A	-	2	0	TFR2	100056456	1.000000	0.71417	0.934000	0.37439	0.760000	0.43138	6.678000	0.74508	2.890000	0.99128	0.650000	0.86243	GCG		0.632	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		17	35	0	0	0	1	0	17	35				
ST18	9705	broad.mit.edu	37	8	53084707	53084707	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084707A>G	ENST00000276480.7	-	10	1397	c.714T>C	c.(712-714)acT>acC	p.T238T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	238					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTCACCTTCAGTTTTTATTT	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(712-714)acT>acC		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							65.0	71.0	69.0					8																	53084707		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084707A>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.714T>C	8.37:g.53084707A>G							p.T238T	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	1397	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	238					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.714T>C	CCDS6149.1																																																																																				0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			29	48	0	0	0	1	0	29	48				
MIR99AHG	388815	broad.mit.edu	37	21	17566875	17566875	+	lincRNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17566875A>G	ENST00000458468.1	+	0	409					NR_027790.1																						TGGGTGTTGGACAACCATAGG	0.468																																						ENST00000458468.1																			0																				80.0	86.0	84.0					21																	17566875		2203	4300	6503			0							g.chr21:17566875A>G																													21.37:g.17566875A>G								NR_027790.1						0	409	+									RNA	SNP	ENST00000458468.1	37																																																																																						0.468	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			9	40	0	0	0	1	0	9	40				
SLC38A8	146167	broad.mit.edu	37	16	84075744	84075744	+	Nonsense_Mutation	SNP	C	C	A	rs200459075		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84075744C>A	ENST00000299709.3	-	1	18	c.19G>T	c.(19-21)Gga>Tga	p.G7*	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	7					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCTGCTTCCTGGGGTCTGT	0.587																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(19-21)Gga>Tga		solute carrier family 38, member 8							63.0	70.0	67.0					16																	84075744		2200	4300	6500	SO:0001587	stop_gained	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84075744C>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.19G>T	16.37:g.84075744C>A	ENSP00000299709:p.Gly7*						p.G7*	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			1	18	-			7						Nonsense_Mutation	SNP	ENST00000299709.3	37	c.19G>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585877	0.86748	.	.	ENSG00000166558	ENST00000299709	.	.	.	4.87	2.92	0.33932	.	0.168589	0.38164	U	0.001795	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	5.0741	10.8401	0.46710	0.0:0.8464:0.0:0.1536	.	.	.	.	X	7	.	ENSP00000299709:G7X	G	-	1	0	SLC38A8	82633245	0.042000	0.20092	0.000000	0.03702	0.007000	0.05969	2.638000	0.46562	0.486000	0.27676	-0.151000	0.13558	GGA		0.587	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		9	77	1	0	4.68919e-08	1	5.58064e-08	9	77				
PLEKHM3	389072	broad.mit.edu	37	2	208866154	208866154	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866154G>C	ENST00000427836.2	-	2	699	c.210C>G	c.(208-210)ggC>ggG	p.G70G	PLEKHM3_ENST00000389247.4_Silent_p.G70G|PLEKHM3_ENST00000457206.1_Silent_p.G70G	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	70					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCAAATCATGCCCCCCTTGC	0.502																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(208-210)ggC>ggG		pleckstrin homology domain containing, family M, member 3							95.0	96.0	95.0					2																	208866154		1928	4135	6063	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208866154G>C	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.210C>G	2.37:g.208866154G>C						PLEKHM3_ENST00000389247.4_Silent_p.G70G|PLEKHM3_ENST00000427836.2_Silent_p.G70G	p.G70G			Q6ZWE6	PKHM3_HUMAN			2	637	-			70					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.210C>G	CCDS42808.1																																																																																				0.502	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		18	43	0	0	0	1	0	18	43				
TNRC18	84629	broad.mit.edu	37	7	5348995	5348995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5348995C>T	ENST00000430969.1	-	28	8741	c.8393G>A	c.(8392-8394)cGt>cAt	p.R2798H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2798H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2798							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCATGCCACGCCGCTGCAA	0.682																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8392-8394)cGt>cAt		trinucleotide repeat containing 18							29.0	29.0	29.0					7																	5348995		1998	4179	6177	SO:0001583	missense	84629						DNA binding	g.chr7:5348995C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8393G>A	7.37:g.5348995C>T	ENSP00000395538:p.Arg2798His					TNRC18_ENST00000430969.1_Missense_Mutation_p.R2798H	p.R2798H			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	28	8741	-		Ovarian(82;0.142)	2798					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8393G>A	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.21|16.21	3.059270|3.059270	0.55325|0.55325	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.14516|.	2.5;2.51|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.71702|0.71702	0.3371|0.3371	L|L	0.50333|0.50333	1.59|1.59	0.48087|0.48087	D|D	0.999589|0.999589	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75082|0.75082	-0.3443|-0.3443	9|6	0.87932|0.87932	D|D	0|0	.|.	18.278|18.278	0.90089|0.90089	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2798|.	O15417|.	TNC18_HUMAN|.	H|M	2798|1311	ENSP00000382452:R2798H;ENSP00000395538:R2798H|.	ENSP00000382452:R2798H|ENSP00000382459:V1311M	R|V	-|-	2|1	0|0	TNRC18|TNRC18	5315521|5315521	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.277000|0.277000	0.26821|0.26821	7.290000|7.290000	0.78711|0.78711	2.302000|2.302000	0.77476|0.77476	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	11	0	0	0	1	0	5	11				
MTBP	27085	broad.mit.edu	37	8	121463488	121463488	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121463488C>T	ENST00000305949.1	+	4	396	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	117					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACGAATATCGAAGAATGTT	0.313																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(349-351)atC>atT		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							100.0	102.0	102.0					8																	121463488		2203	4299	6502	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121463488C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.351C>T	8.37:g.121463488C>T							p.I117I	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	396	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		117					B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.351C>T	CCDS6333.1																																																																																				0.313	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		7	53	0	0	0	1	0	7	53				
IGLV8-61	28774	broad.mit.edu	37	22	22453493	22453493	+	RNA	SNP	G	G	A	rs199887007		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22453493G>A	ENST00000390283.2	+	0	285									immunoglobulin lambda variable 8-61																		ACAAACACTCGCTCTTCTGGG	0.567																																						ENST00000390283.2																			0																				141.0	145.0	144.0					22																	22453493		2001	4168	6169			0							g.chr22:22453493G>A	Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453493G>A														0	285	+									RNA	SNP	ENST00000390283.2	37																																																																																						0.567	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320321.1	NG_000002		47	63	0	0	0	1	0	47	63				
WIPF3	644150	broad.mit.edu	37	7	29915574	29915574	+	Silent	SNP	C	C	T	rs530112733		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29915574C>T	ENST00000409290.1	+	2	219	c.219C>T	c.(217-219)atC>atT	p.I73I	WIPF3_ENST00000409123.1_Silent_p.I73I|WIPF3_ENST00000242140.5_Silent_p.I73I	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	73					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCCCGCAGATCGAGAGTAAGT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16721	0.0		0.0	False		,,,				2504	0.0					ENST00000409290.1																			0				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						c.(217-219)atC>atT		WAS/WASL interacting protein family, member 3							31.0	36.0	34.0					7																	29915574		2060	4204	6264	SO:0001819	synonymous_variant	644150							g.chr7:29915574C>T	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.219C>T	7.37:g.29915574C>T						WIPF3_ENST00000409123.1_Silent_p.I73I|WIPF3_ENST00000242140.5_Silent_p.I73I	p.I73I	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN			2	219	+			73					B8ZZV2	Silent	SNP	ENST00000409290.1	37	c.219C>T	CCDS56472.1																																																																																				0.627	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			21	14	0	0	0	1	0	21	14				
DCAF12L1	139170	broad.mit.edu	37	X	125685396	125685396	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685396C>A	ENST00000371126.1	-	1	1438	c.1196G>T	c.(1195-1197)aGg>aTg	p.R399M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	399										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAGCTTCCTCCTTGCAGGTCC	0.577																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1195-1197)aGg>aTg		DDB1 and CUL4 associated factor 12-like 1							73.0	71.0	72.0					X																	125685396		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685396C>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1196G>T	X.37:g.125685396C>A	ENSP00000360167:p.Arg399Met						p.R399M	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1438	-			399					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1196G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	5.770	0.326494	0.10900	.	.	ENSG00000198889	ENST00000371126	T	0.19105	2.17	4.0	3.13	0.36017	.	0.442134	0.16905	N	0.194749	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P	0.44877	0.845	B	0.37601	0.254	T	0.10200	-1.0640	10	0.72032	D	0.01	.	10.836	0.46688	0.0:0.8109:0.1891:0.0	.	399	Q5VU92	DC121_HUMAN	M	399	ENSP00000360167:R399M	ENSP00000360167:R399M	R	-	2	0	DCAF12L1	125513077	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	0.106000	0.15354	1.039000	0.40074	0.513000	0.50165	AGG		0.577	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		32	63	1	0	1.60099e-16	1	2.06663e-16	32	63				
PPP1R7	5510	broad.mit.edu	37	2	242122067	242122067	+	Silent	SNP	C	C	T	rs528914663		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242122067C>T	ENST00000234038.6	+	10	1386	c.912C>T	c.(910-912)aaC>aaT	p.N304N	PPP1R7_ENST00000407025.1_Silent_p.N304N|PPP1R7_ENST00000272983.8_Silent_p.N261N	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	304					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCCAGATGAACGACAATCTCC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19425	0.0		0.0	False		,,,				2504	0.0				NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(910-912)aaC>aaT		protein phosphatase 1, regulatory subunit 7							123.0	126.0	125.0					2																	242122067		2203	4300	6503	SO:0001819	synonymous_variant	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242122067C>T	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.912C>T	2.37:g.242122067C>T						PPP1R7_ENST00000407025.1_Silent_p.N304N|PPP1R7_ENST00000272983.8_Silent_p.N261N	p.N304N	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	10	1386	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	304					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	c.912C>T	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.860|8.860	0.946732|0.946732	0.18356|0.18356	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000415769|ENST00000450367	.|.	.|.	.|.	5.19|5.19	-1.19|-1.19	0.09585|0.09585	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57489	.|0.2057	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54029	.|-0.8354	.|4	.|.	.|.	.|.	-14.6122|-14.6122	10.7956|10.7956	0.46459|0.46459	0.0:0.426:0.0:0.574|0.0:0.426:0.0:0.574	.|.	.|.	.|.	.|.	X|M	26|279	.|.	.|.	R|T	+|+	1|2	2|0	PPP1R7|PPP1R7	241770740|241770740	0.025000|0.025000	0.19082|0.19082	0.997000|0.997000	0.53966|0.53966	0.913000|0.913000	0.54294|0.54294	-0.822000|-0.822000	0.04448|0.04448	-0.147000|-0.147000	0.11254|0.11254	-0.373000|-0.373000	0.07131|0.07131	CGA|ACG		0.597	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		14	40	0	0	0	1	0	14	40				
CELSR2	1952	broad.mit.edu	37	1	109795676	109795676	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795676A>G	ENST00000271332.3	+	1	3036	c.2975A>G	c.(2974-2976)tAc>tGc	p.Y992C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	992	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCCTGAGTACGTCCTGGTC	0.602																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2974-2976)tAc>tGc		cadherin, EGF LAG seven-pass G-type receptor 2							82.0	75.0	77.0					1																	109795676		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795676A>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2975A>G	1.37:g.109795676A>G	ENSP00000271332:p.Tyr992Cys						p.Y992C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3036	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	992			Cadherin 8.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2975A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.90	3.249806	0.59212	.	.	ENSG00000143126	ENST00000271332	T	0.69561	-0.41	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83557	0.5280	M	0.93507	3.425	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.88231	0.2903	9	0.87932	D	0	.	14.7889	0.69824	1.0:0.0:0.0:0.0	.	992	Q9HCU4	CELR2_HUMAN	C	992	ENSP00000271332:Y992C	ENSP00000271332:Y992C	Y	+	2	0	CELSR2	109597199	1.000000	0.71417	0.768000	0.31515	0.921000	0.55340	7.335000	0.79234	2.095000	0.63458	0.529000	0.55759	TAC		0.602	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		22	59	0	0	0	1	0	22	59				
MAF	4094	broad.mit.edu	37	16	79633678	79633678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633678C>T	ENST00000393350.1	-	1	933	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MAF_ENST00000326043.4_Missense_Mutation_p.R41H|MAF_ENST00000569649.1_Missense_Mutation_p.R41H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	41					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCTGATGATGCGGTCGGTCTC	0.607			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10						c.(121-123)cGc>cAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							27.0	32.0	30.0					16																	79633678		2198	4299	6497	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633678C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.122G>A	16.37:g.79633678C>T	ENSP00000377019:p.Arg41His					MAF_ENST00000569649.1_Missense_Mutation_p.R41H|MAF_ENST00000326043.4_Missense_Mutation_p.R41H	p.R41H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	933	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	41					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.122G>A	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288867	0.59976	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.98419	-4.92;-4.88	4.04	3.09	0.35607	.	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	M	0.74881	2.28	0.41674	D	0.989258	D;D	0.89917	0.999;1.0	D;D	0.71414	0.912;0.973	D	0.97878	1.0290	10	0.42905	T	0.14	-18.0686	11.2434	0.48982	0.0:0.9073:0.0:0.0926	.	41;41	O75444;O75444-1	MAF_HUMAN;.	H	41	ENSP00000327048:R41H;ENSP00000377019:R41H	ENSP00000327048:R41H	R	-	2	0	MAF	78191179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.261000	0.65496	0.706000	0.31912	0.632000	0.83419	CGC		0.607	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			4	30	0	0	0	1	0	4	30				
PPP1R26	9858	broad.mit.edu	37	9	138379302	138379302	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138379302C>T	ENST00000356818.2	+	4	3495	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.S982S|PPP1R26_ENST00000605660.1_Silent_p.S982S|PPP1R26_ENST00000401470.3_Silent_p.S982S|PPP1R26_ENST00000604351.1_Silent_p.S982S	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	982					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGCTGCCCAGCTGTGCCACAG	0.637																																						ENST00000356818.2																			0											c.(2944-2946)agC>agT		protein phosphatase 1, regulatory subunit 26							18.0	19.0	19.0					9																	138379302		2072	4059	6131	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379302C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2946C>T	9.37:g.138379302C>T						PPP1R26_ENST00000604351.1_Silent_p.S982S|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.S982S|PPP1R26_ENST00000605660.1_Silent_p.S982S|PPP1R26_ENST00000401470.3_Silent_p.S982S	p.S982S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3495	+			982					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2946C>T	CCDS6988.1																																																																																				0.637	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		14	12	0	0	0	1	0	14	12				
TUBG2	27175	broad.mit.edu	37	17	40811931	40811931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40811931G>T	ENST00000251412.7	+	2	328	c.129G>T	c.(127-129)gaG>gaT	p.E43D		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	43					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCGCCACCGAGGGCACTGACC	0.662																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(127-129)gaG>gaT		tubulin, gamma 2							44.0	56.0	52.0					17																	40811931		2199	4289	6488	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40811931G>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.129G>T	17.37:g.40811931G>T	ENSP00000251412:p.Glu43Asp						p.E43D	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	2	328	+		Breast(137;0.00116)	43					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.129G>T	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119405	0.20877	.	.	ENSG00000037042	ENST00000251412	T	0.70045	-0.45	5.14	0.628	0.17681	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	N	0.12443	0.215	0.49051	D	0.999747	B	0.02656	0.0	B	0.01281	0.0	T	0.11251	-1.0595	10	0.18710	T	0.47	-32.1771	11.3857	0.49785	0.3071:0.0:0.6929:0.0	.	43	Q9NRH3	TBG2_HUMAN	D	43	ENSP00000251412:E43D	ENSP00000251412:E43D	E	+	3	2	TUBG2	38065457	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	0.978000	0.29488	-0.005000	0.14395	-0.797000	0.03246	GAG		0.662	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		7	46	1	0	0.000157383	1	0.00017284	7	46				
PKD1L1	168507	broad.mit.edu	37	7	47894786	47894786	+	Silent	SNP	G	G	A	rs376187635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47894786G>A	ENST00000289672.2	-	29	4718	c.4668C>T	c.(4666-4668)ccC>ccT	p.P1556P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1556	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGACCATCACGGGTTTCCTTA	0.488																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4666-4668)ccC>ccT		polycystic kidney disease 1 like 1		G		0,4406		0,0,2203	133.0	131.0	132.0		4668	-10.2	0.0	7		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKD1L1	NM_138295.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1556/2850	47894786	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47894786G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4668C>T	7.37:g.47894786G>A							p.P1556P	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			29	4718	-			1556			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.4668C>T	CCDS34633.1																																																																																				0.488	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		37	37	0	0	0	1	0	37	37				
CEP192	55125	broad.mit.edu	37	18	13095650	13095650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13095650G>T	ENST00000325971.8	+	33	6208	c.4615G>T	c.(4615-4617)Gag>Tag	p.E1539*	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Nonsense_Mutation_p.E2135*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.E1660*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1539					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTCCTACCCGAGCACTTGAT	0.587																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6403-6405)Gag>Tag		centrosomal protein 192kDa							77.0	74.0	75.0					18																	13095650		2203	4300	6503	SO:0001587	stop_gained	55125							g.chr18:13095650G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4615G>T	18.37:g.13095650G>T	ENSP00000317156:p.Glu1539*					CEP192_ENST00000325971.8_Nonsense_Mutation_p.E1539*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.E1660*|CEP192_ENST00000540847.2_3'UTR	p.E2135*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			35	6483	+			1730					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.6403G>T		.	.	.	.	.	.	.	.	.	.	G	53	20.418710	0.99930	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	.	.	.	5.91	5.91	0.95273	.	0.103535	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.0725	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	2135;1539;1539;1660;139	.	ENSP00000317156:E1539X	E	+	1	0	CEP192	13085650	1.000000	0.71417	0.224000	0.23877	0.005000	0.04900	6.378000	0.73150	2.808000	0.96608	0.655000	0.94253	GAG		0.587	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		24	55	1	0	1.1804e-14	1	1.50872e-14	24	55				
CDC45	8318	broad.mit.edu	37	22	19496191	19496191	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19496191C>A	ENST00000407835.1	+	14	1450	c.1194C>A	c.(1192-1194)atC>atA	p.I398I	CDC45_ENST00000404724.3_Silent_p.I352I|CDC45_ENST00000263201.1_Silent_p.I398I|CDC45_ENST00000437685.2_Silent_p.I430I			O75419	CDC45_HUMAN	cell division cycle 45	398					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATCACTTCATCCAGGCTCTGG	0.582																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1192-1194)atC>atA		cell division cycle 45							88.0	72.0	78.0					22																	19496191		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19496191C>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1194C>A	22.37:g.19496191C>A						CDC45_ENST00000404724.3_Silent_p.I352I|CDC45_ENST00000437685.2_Silent_p.I430I|CDC45_ENST00000263201.1_Silent_p.I398I	p.I398I			O75419	CDC45_HUMAN			14	1450	+			398					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1194C>A	CCDS13762.1																																																																																				0.582	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		4	21	1	0	0.000602214	1	0.000649039	4	21				
MAP7D2	256714	broad.mit.edu	37	X	20034272	20034272	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20034272C>T	ENST00000379651.3	-	10	1479	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000443379.3_Silent_p.E442E|MAP7D2_ENST00000452324.3_Silent_p.E435E|MAP7D2_ENST00000379643.5_Silent_p.E528E|MAP7D2_ENST00000543767.1_Silent_p.E372E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	487					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcaacaacagctcctcctcag	0.438																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1459-1461)gaG>gaA		MAP7 domain containing 2							189.0	178.0	182.0					X																	20034272		2203	4298	6501	SO:0001819	synonymous_variant	256714							g.chrX:20034272C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1461G>A	X.37:g.20034272C>T						MAP7D2_ENST00000379643.5_Silent_p.E528E|MAP7D2_ENST00000543767.1_Silent_p.E372E|MAP7D2_ENST00000443379.3_Silent_p.E442E|MAP7D2_ENST00000452324.3_Silent_p.E435E	p.E487E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			10	1479	-			487					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.1461G>A	CCDS14195.1																																																																																				0.438	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		4	14	0	0	0	1	0	4	14				
WBSCR17	64409	broad.mit.edu	37	7	70885988	70885988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70885988C>T	ENST00000333538.5	+	5	1493	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	287					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAGGTGCAGCGGTACGAGAA	0.577																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(859-861)Cgg>Tgg		Williams-Beuren syndrome chromosome region 17							149.0	137.0	141.0					7																	70885988		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70885988C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.859C>T	7.37:g.70885988C>T	ENSP00000329654:p.Arg287Trp					WBSCR17_ENST00000498380.2_3'UTR	p.R287W	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			5	1493	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	287					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.859C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469957	0.84533	.	.	ENSG00000185274	ENST00000333538	T	0.64438	-0.1	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75391	-0.3334	10	0.87932	D	0	.	13.0276	0.58825	0.1609:0.8391:0.0:0.0	.	287	Q6IS24	GLTL3_HUMAN	W	287	ENSP00000329654:R287W	ENSP00000329654:R287W	R	+	1	2	WBSCR17	70523924	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.621000	0.67743	2.490000	0.84030	0.557000	0.71058	CGG		0.577	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		10	192	0	0	0	1	0	10	192				
MTTP	4547	broad.mit.edu	37	4	100543915	100543915	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100543915A>G	ENST00000265517.5	+	18	2798	c.2595A>G	c.(2593-2595)ggA>ggG	p.G865G	MTTP_ENST00000457717.1_Silent_p.G865G|MTTP_ENST00000511045.1_Silent_p.G892G|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	865					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TATTAGCAGGATGTGAATTCC	0.458																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2593-2595)ggA>ggG		microsomal triglyceride transfer protein	Hesperetin(DB01094)						157.0	155.0	156.0					4																	100543915		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100543915A>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2595A>G	4.37:g.100543915A>G						MTTP_ENST00000511045.1_Silent_p.G892G|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.G865G	p.G865G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	19	2851	+			865					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2595A>G	CCDS3651.1																																																																																				0.458	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			11	103	0	0	0	1	0	11	103				
CUL5	8065	broad.mit.edu	37	11	107965640	107965640	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965640G>A	ENST00000393094.2	+	15	2285	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	557					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTGATACCGGAAGTAGAAGA	0.348																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1669-1671)Gaa>Aaa		cullin 5							59.0	63.0	62.0					11																	107965640		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107965640G>A	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1669G>A	11.37:g.107965640G>A	ENSP00000376808:p.Glu557Lys						p.E557K	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	15	2285	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	557					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1669G>A	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493095	0.96339	.	.	ENSG00000166266	ENST00000393094	T	0.73152	-0.72	5.66	5.66	0.87406	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.81143	0.4761	M	0.62723	1.935	0.80722	D	1	D	0.57899	0.981	P	0.62298	0.9	T	0.75701	-0.3226	10	0.24483	T	0.36	-21.2896	20.0961	0.97843	0.0:0.0:1.0:0.0	.	557	Q93034	CUL5_HUMAN	K	557	ENSP00000376808:E557K	ENSP00000376808:E557K	E	+	1	0	CUL5	107470850	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.416000	0.97383	2.813000	0.96785	0.655000	0.94253	GAA		0.348	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			37	43	0	0	0	1	0	37	43				
SLC5A11	115584	broad.mit.edu	37	16	24888627	24888627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24888627G>A	ENST00000347898.3	+	7	1148	c.526G>A	c.(526-528)Gat>Aat	p.D176N	SLC5A11_ENST00000565769.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D112N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.D141N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D141N	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTGCACCTGGATCTGTACCT	0.483																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(526-528)Gat>Aat		solute carrier family 5 (sodium/inositol cotransporter), member 11							358.0	289.0	312.0					16																	24888627		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24888627G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.526G>A	16.37:g.24888627G>A	ENSP00000289932:p.Asp176Asn					SLC5A11_ENST00000567758.1_Missense_Mutation_p.D141N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D141N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D112N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D106N	p.D176N	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	7	1148	+			176						Missense_Mutation	SNP	ENST00000347898.3	37	c.526G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	4.015	0.000115	0.07819	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.94	1.85	0.25348	.	0.139509	0.64402	N	0.000005	T	0.71962	0.3402	N	0.04655	-0.195	0.54753	D	0.999986	B;B;B;P	0.44816	0.007;0.002;0.004;0.844	B;B;B;P	0.48654	0.016;0.014;0.036;0.585	T	0.69420	-0.5150	10	0.02654	T	1	.	8.2956	0.31984	0.264:0.0:0.736:0.0	.	106;141;176;112	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	N	176;112;141;106;112	ENSP00000289932:D176N;ENSP00000389606:D112N;ENSP00000416782:D141N;ENSP00000441384:D106N;ENSP00000441018:D112N	ENSP00000289932:D176N	D	+	1	0	SLC5A11	24796128	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	2.214000	0.42853	0.199000	0.20427	-0.258000	0.10820	GAT		0.483	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		151	183	0	0	0	1	0	151	183				
PTRF	284119	broad.mit.edu	37	17	40557040	40557040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40557040G>A	ENST00000357037.5	-	2	1257	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGCACCAGGCGCGTGCCCAGC	0.637																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(838-840)Cgc>Tgc		polymerase I and transcript release factor							98.0	87.0	90.0					17																	40557040		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557040G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.838C>T	17.37:g.40557040G>A	ENSP00000349541:p.Arg280Cys						p.R280C	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1257	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	280						Missense_Mutation	SNP	ENST00000357037.5	37	c.838C>T	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481882	0.84747	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.62941	-0.01	5.81	4.77	0.60923	.	0.195430	0.39759	N	0.001276	T	0.69984	0.3172	L	0.49778	1.585	0.47094	D	0.999312	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.862	T	0.72465	-0.4285	10	0.87932	D	0	-17.3842	13.607	0.62052	0.0:0.0:0.7351:0.2649	.	262;280	B4DNU9;Q6NZI2	.;PTRF_HUMAN	C	280;235	ENSP00000349541:R280C	ENSP00000349541:R280C	R	-	1	0	PTRF	37810566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.924000	0.56476	2.755000	0.94549	0.544000	0.68410	CGC		0.637	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		16	29	0	0	0	1	0	16	29				
EIF1AX	1964	broad.mit.edu	37	X	20150322	20150322	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20150322T>C	ENST00000379607.5	-	5	518	c.315A>G	c.(313-315)gcA>gcG	p.A105A	EIF1AX_ENST00000379593.1_Silent_p.A77A	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GCTCGCCGTATGCCTTCAGAC	0.353																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(313-315)gcA>gcG		eukaryotic translation initiation factor 1A, X-linked							113.0	91.0	99.0					X																	20150322		2203	4300	6503	SO:0001819	synonymous_variant	1964					cytosol	translation initiation factor activity	g.chrX:20150322T>C	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.315A>G	X.37:g.20150322T>C						EIF1AX_ENST00000379593.1_Silent_p.A77A	p.A105A	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			5	518	-			105					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Silent	SNP	ENST00000379607.5	37	c.315A>G	CCDS14196.1																																																																																				0.353	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			27	46	0	0	0	1	0	27	46				
MPPED1	758	broad.mit.edu	37	22	43821091	43821091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43821091G>A	ENST00000417669.2	+	2	544	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	MPPED1_ENST00000443721.1_Missense_Mutation_p.A34T|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A34T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.A67T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	34							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCACGTGATGGCCGCTCGGCG	0.662																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(100-102)Gcc>Acc		metallophosphoesterase domain containing 1							31.0	37.0	35.0					22																	43821091		2139	4267	6406	SO:0001583	missense	758						hydrolase activity	g.chr22:43821091G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.100G>A	22.37:g.43821091G>A	ENSP00000388137:p.Ala34Thr					MPPED1_ENST00000538182.1_Missense_Mutation_p.A67T|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A34T|MPPED1_ENST00000443721.1_Missense_Mutation_p.A34T|MPPED1_ENST00000414469.2_Intron	p.A34T			O15442	MPPD1_HUMAN			2	544	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	34					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.100G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594204	0.86953	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000447567;ENST00000542779;ENST00000538182	T;T;T;T;T	0.55052	0.7;0.54;0.7;0.7;0.79	5.2	4.18	0.49190	.	0.291014	0.33875	N	0.004479	T	0.55417	0.1919	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.989	T	0.55921	-0.8064	10	0.49607	T	0.09	-37.5224	9.0403	0.36314	0.1679:0.0:0.8321:0.0	.	67;34	B7Z2S9;O15442	.;MPPD1_HUMAN	T	34;34;34;12;34;34;67	ENSP00000388137:A34T;ENSP00000335568:A34T;ENSP00000400686:A34T;ENSP00000444532:A34T;ENSP00000438335:A67T	ENSP00000335568:A34T	A	+	1	0	MPPED1	42151035	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.230000	0.58632	1.194000	0.43101	0.655000	0.94253	GCC		0.662	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		10	12	0	0	0	1	0	10	12				
EIF4G3	8672	broad.mit.edu	37	1	21137325	21137325	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21137325C>T	ENST00000264211.8	-	30	4676	c.4482G>A	c.(4480-4482)ccG>ccA	p.P1494P	EIF4G3_ENST00000400422.1_Silent_p.P1494P|EIF4G3_ENST00000602326.1_Silent_p.P1500P|EIF4G3_ENST00000374937.3_Silent_p.P1500P|EIF4G3_ENST00000536266.1_Silent_p.P1098P|EIF4G3_ENST00000537738.1_Silent_p.P984P|EIF4G3_ENST00000374935.3_Silent_p.P1214P	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1494	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGTAAGATCGGCACTCTCT	0.413																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(4498-4500)ccG>ccA		eukaryotic translation initiation factor 4 gamma, 3							146.0	128.0	134.0					1																	21137325		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21137325C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4482G>A	1.37:g.21137325C>T						EIF4G3_ENST00000374937.3_Silent_p.P1500P|EIF4G3_ENST00000400422.1_Silent_p.P1494P|EIF4G3_ENST00000264211.8_Silent_p.P1494P|EIF4G3_ENST00000537738.1_Silent_p.P984P|EIF4G3_ENST00000374935.3_Silent_p.P1214P|EIF4G3_ENST00000536266.1_Silent_p.P1098P	p.P1500P	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	34	5083	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1494			EIF4A-binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.4500G>A	CCDS214.1																																																																																				0.413	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		36	72	0	0	0	1	0	36	72				
VPS52	6293	broad.mit.edu	37	6	33219411	33219411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33219411G>A	ENST00000445902.2	-	19	2127	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	HCG25_ENST00000450514.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R512W|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	637					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.R637W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAGTTACCCGGGCTAATAGC	0.478																																						ENST00000445902.2																			1	Substitution - Missense(1)	p.R637W(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1909-1911)Cgg>Tgg		vacuolar protein sorting 52 homolog (S. cerevisiae)							95.0	92.0	93.0					6																	33219411		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33219411G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1909C>T	6.37:g.33219411G>A	ENSP00000409952:p.Arg637Trp					HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R512W|VPS52_ENST00000482399.1_3'UTR	p.R637W	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			19	2127	-			637					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1909C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053933	0.75960	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.31	2.41	0.29592	.	0.121633	0.56097	D	0.000031	T	0.59649	0.2209	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.69654	0.965;0.724	T	0.62305	-0.6882	9	0.56958	D	0.05	-20.0597	8.9075	0.35532	0.0:0.1628:0.6689:0.1683	.	448;637	B3KMF7;Q8N1B4	.;VPS52_HUMAN	W	637;615;512	.	ENSP00000414785:R615W	R	-	1	2	VPS52	33327389	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.889000	0.56212	0.690000	0.31570	0.448000	0.29417	CGG		0.478	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		18	37	0	0	0	1	0	18	37				
ZNF136	7695	broad.mit.edu	37	19	12298441	12298441	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12298441A>G	ENST00000343979.4	+	4	1388	c.1248A>G	c.(1246-1248)ggA>ggG	p.G416G	ZNF136_ENST00000398616.2_Silent_p.G350G	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	416					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTCACACTGGAGAGAAACCTT	0.363																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1246-1248)ggA>ggG		zinc finger protein 136							62.0	58.0	59.0					19																	12298441		2203	4300	6503	SO:0001819	synonymous_variant	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298441A>G	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1248A>G	19.37:g.12298441A>G						ZNF136_ENST00000398616.2_Silent_p.G350G	p.G416G	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	1388	+			416						Silent	SNP	ENST00000343979.4	37	c.1248A>G	CCDS32916.1																																																																																				0.363	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		18	24	0	0	0	1	0	18	24				
COL25A1	84570	broad.mit.edu	37	4	109748331	109748331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109748331G>A	ENST00000399132.1	-	33	2254	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	COL25A1_ENST00000399126.1_Missense_Mutation_p.A575V|COL25A1_ENST00000399127.1_Missense_Mutation_p.A587V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTCTCCCATAGCTCCTTTTTC	0.483																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1723-1725)gCt>gTt		collagen, type XXV, alpha 1							77.0	76.0	76.0					4																	109748331		1916	4126	6042	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109748331G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1724C>T	4.37:g.109748331G>A	ENSP00000382083:p.Ala575Val					COL25A1_ENST00000399127.1_Missense_Mutation_p.A587V|COL25A1_ENST00000399126.1_Missense_Mutation_p.A575V	p.A575V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	33	2254	-		Hepatocellular(203;0.217)	575			Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1724C>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547625	0.27652	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	D;D;D	0.93547	-3.19;-3.24;-3.19	5.29	3.56	0.40772	.	0.715837	0.13782	N	0.363126	D	0.84261	0.5433	N	0.12637	0.245	0.26547	N	0.973989	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.70543	-0.4843	9	.	.	.	-0.0348	8.3728	0.32425	0.3009:0.0:0.6991:0.0	.	575;575	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	575;577;556;587;575	ENSP00000382083:A575V;ENSP00000382078:A587V;ENSP00000382077:A575V	.	A	-	2	0	COL25A1	109967780	0.983000	0.35010	0.570000	0.28473	0.989000	0.77384	3.057000	0.49931	0.625000	0.30304	0.561000	0.74099	GCT		0.483	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		13	26	0	0	0	1	0	13	26				
SLA	6503	broad.mit.edu	37	8	134050923	134050923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134050923C>A	ENST00000338087.5	-	9	1496	c.677G>T	c.(676-678)aGc>aTc	p.S226I	SLA_ENST00000395352.3_Missense_Mutation_p.S243I|SLA_ENST00000517648.1_Missense_Mutation_p.S199I|SLA_ENST00000427060.2_Missense_Mutation_p.S266I|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.S118I|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	226	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AAGGCCATAGCTGAAAAGGGA	0.512																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(676-678)aGc>aTc		Src-like-adaptor							124.0	109.0	114.0					8																	134050923		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050923C>A		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.677G>T	8.37:g.134050923C>A	ENSP00000337548:p.Ser226Ile					TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S266I|SLA_ENST00000395352.3_Missense_Mutation_p.S243I|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.S199I|SLA_ENST00000524345.1_Missense_Mutation_p.S118I	p.S226I	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1496	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	226			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.677G>T	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227496	0.95173	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	D;D;D;T;T	0.84944	-1.88;-1.92;-1.89;0.32;1.2	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.92874	0.6317	10	0.87932	D	0	-35.9903	18.9106	0.92483	0.0:1.0:0.0:0.0	.	199;226;226;226	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	I	226;266;243;118;199	ENSP00000337548:S226I;ENSP00000394049:S266I;ENSP00000378759:S243I;ENSP00000427928:S118I;ENSP00000428559:S199I	ENSP00000337548:S226I	S	-	2	0	SLA	134120105	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.139000	0.71728	2.805000	0.96524	0.655000	0.94253	AGC		0.512	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			6	40	1	0	3.59834e-05	1	4.01776e-05	6	40				
FLT1	2321	broad.mit.edu	37	13	28877367	28877367	+	Silent	SNP	G	G	A	rs372529662		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28877367G>A	ENST00000282397.4	-	30	4205	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	FLT1_ENST00000543394.1_Silent_p.I341I|FLT1_ENST00000540678.1_Silent_p.I536I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCACGCGATTTTCCTTT	0.567																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3952-3954)atC>atT		fms-related tyrosine kinase 1	Sunitinib(DB01268)	G		0,4406		0,0,2203	92.0	82.0	85.0		3954	-8.3	0.0	13		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLT1	NM_002019.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1318/1339	28877367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877367G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3954C>T	13.37:g.28877367G>A						FLT1_ENST00000540678.1_Silent_p.I536I|FLT1_ENST00000543394.1_Silent_p.I341I	p.I1318I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	30	4205	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1318					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.3954C>T	CCDS9330.1																																																																																				0.567	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			22	46	0	0	0	1	0	22	46				
LRRC37BP1	147172	broad.mit.edu	37	17	28958870	28958870	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28958870G>T	ENST00000417404.1	+	0	0									leucine rich repeat containing 37B pseudogene 1																		TTGAGTCGGAGGCGCCCTCAG	0.507																																						ENST00000412831.1																			0																																																			0							g.chr17:28958870G>T	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28958870G>T						SMURF2P1_ENST00000578265.1_RNA								0	98	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.507	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		7	165	1	0	6.5536e-12	1	8.20813e-12	7	165				
TANC2	26115	broad.mit.edu	37	17	61499143	61499143	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61499143C>A	ENST00000424789.2	+	25	5804	c.5800C>A	c.(5800-5802)Ctc>Atc	p.L1934I	TANC2_ENST00000389520.4_Missense_Mutation_p.L1944I|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1934					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCGTGGAGACCTCTTGGAGCG	0.542																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5800-5802)Ctc>Atc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							77.0	78.0	78.0					17																	61499143		2035	4195	6230	SO:0001583	missense	26115						binding	g.chr17:61499143C>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5800C>A	17.37:g.61499143C>A	ENSP00000387593:p.Leu1934Ile					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L1944I	p.L1934I	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5804	+			1934					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.5800C>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421324	0.25639	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.67698	-0.28;-0.28	5.62	5.62	0.85841	.	0.065243	0.64402	D	0.000006	T	0.51092	0.1654	N	0.12182	0.205	0.33076	D	0.535946	B	0.09022	0.002	B	0.09377	0.004	T	0.53920	-0.8370	10	0.31617	T	0.26	.	18.192	0.89809	0.0:1.0:0.0:0.0	.	1934	Q9HCD6	TANC2_HUMAN	I	1944;1934	ENSP00000374171:L1944I;ENSP00000387593:L1934I	ENSP00000374171:L1944I	L	+	1	0	TANC2	58852875	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.401000	0.44513	2.797000	0.96272	0.555000	0.69702	CTC		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			6	49	1	0	0.0215528	1	0.0221649	6	49				
SLC25A29	123096	broad.mit.edu	37	14	100759259	100759259	+	Silent	SNP	C	C	T	rs535393080		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100759259C>T	ENST00000359232.3	-	4	573	c.273G>A	c.(271-273)tcG>tcA	p.S91S	RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Silent_p.S25S|SLC25A29_ENST00000556505.1_Silent_p.S25S|SLC25A29_ENST00000554912.1_Silent_p.S25S|SLC25A29_ENST00000555927.1_Silent_p.S25S|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000392908.3_Missense_Mutation_p.A77T	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	91						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GGTTGAGGGGCGAGTCGTGGC	0.692																																						ENST00000392908.3																			0				NS(1)|endometrium(1)|ovary(1)	3						c.(229-231)Gcc>Acc		solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	L-Carnitine(DB00583)						9.0	13.0	11.0					14																	100759259		2132	4184	6316	SO:0001819	synonymous_variant	123096					integral to membrane|mitochondrial inner membrane	binding	g.chr14:100759259C>T	AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"""Solute carriers"""	20116	protein-coding gene	gene with protein product		615064	"""chromosome 14 open reading frame 69"", ""solute carrier family 25, member 29"""	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.273G>A	14.37:g.100759259C>T						SLC25A29_ENST00000554912.1_Silent_p.S25S|SLC25A29_ENST00000539621.1_Silent_p.S25S|SLC25A29_ENST00000359232.3_Silent_p.S91S|SLC25A29_ENST00000556505.1_Silent_p.S25S|SLC25A29_ENST00000555927.1_Silent_p.S25S|RP11-638I2.6_ENST00000556458.1_lincRNA	p.A77T			Q8N8R3	MCATL_HUMAN			3	437	-		Melanoma(154;0.152)	291					A3KMR5|Q541V0	Missense_Mutation	SNP	ENST00000359232.3	37	c.229G>A	CCDS32156.1	.	.	.	.	.	.	.	.	.	.	C	4.255	0.046387	0.08243	.	.	ENSG00000197119	ENST00000392908;ENST00000554060	.	.	.	4.99	-4.52	0.03472	.	.	.	.	.	T	0.46054	0.1373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57075	-0.7873	5	0.87932	D	0	-9.7053	0.9339	0.01340	0.324:0.1066:0.3013:0.2681	.	.	.	.	T	77	.	ENSP00000376640:A77T	A	-	1	0	SLC25A29	99829012	0.004000	0.15560	0.948000	0.38648	0.067000	0.16453	-1.294000	0.02767	-0.278000	0.09180	-0.217000	0.12591	GCC		0.692	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3			4	4	0	0	0	1	0	4	4				
NUAK1	9891	broad.mit.edu	37	12	106461707	106461707	+	Missense_Mutation	SNP	G	G	T	rs56311486	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106461707G>T	ENST00000261402.2	-	7	2238	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTCACCATCAGCATCCACCGT	0.547																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(859-861)Ctg>Atg		NUAK family, SNF1-like kinase, 1							58.0	58.0	58.0					12																	106461707		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461707G>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.859C>A	12.37:g.106461707G>T	ENSP00000261402:p.Leu287Met						p.L287M	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	2238	-			287			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.859C>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263567	0.59431	.	.	ENSG00000074590	ENST00000261402;ENST00000553094;ENST00000549704	T;T;T	0.73575	-0.76;0.59;0.47	5.67	1.75	0.24633	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.141093	0.32503	N	0.006017	T	0.80737	0.4680	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.78484	-0.2186	10	0.87932	D	0	.	7.5082	0.27558	0.1916:0.0:0.6918:0.1165	.	287	O60285	NUAK1_HUMAN	M	287;2;37	ENSP00000261402:L287M;ENSP00000446873:L2M;ENSP00000449990:L37M	ENSP00000261402:L287M	L	-	1	2	NUAK1	104985837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.129000	0.42055	0.323000	0.23307	0.561000	0.74099	CTG		0.547	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		16	26	1	0	2.23348e-06	1	2.57349e-06	16	26				
GON4L	54856	broad.mit.edu	37	1	155774865	155774865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155774865C>T	ENST00000368331.1	-	11	1568	c.1520G>A	c.(1519-1521)gGc>gAc	p.G507D	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.G507D|GON4L_ENST00000271883.5_Missense_Mutation_p.G507D|GON4L_ENST00000437809.1_Missense_Mutation_p.G507D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	507					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTAATTGGCCCAGGGGAAC	0.502																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(1519-1521)gGc>gAc		gon-4-like (C. elegans)							135.0	124.0	128.0					1																	155774865		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155774865C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1520G>A	1.37:g.155774865C>T	ENSP00000357315:p.Gly507Asp					GON4L_ENST00000361040.5_Missense_Mutation_p.G507D|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.G507D|GON4L_ENST00000368331.1_Missense_Mutation_p.G507D	p.G507D			Q3T8J9	GON4L_HUMAN			11	1642	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		507					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.1520G>A		.	.	.	.	.	.	.	.	.	.	C	14.78	2.637630	0.47049	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.12569	2.85;2.85;2.85;2.67	4.93	4.93	0.64822	.	0.056275	0.64402	D	0.000001	T	0.16342	0.0393	L	0.39397	1.21	0.46458	D	0.999055	D;P;D;D;D;D	0.89917	1.0;0.876;1.0;0.989;1.0;1.0	D;B;D;P;D;D	0.97110	1.0;0.431;0.998;0.803;0.999;1.0	T	0.04178	-1.0971	10	0.09084	T	0.74	.	17.9264	0.88985	0.0:1.0:0.0:0.0	.	287;201;507;507;507;507	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	D	507	ENSP00000396117:G507D;ENSP00000357315:G507D;ENSP00000271883:G507D;ENSP00000354322:G507D	ENSP00000271883:G507D	G	-	2	0	GON4L	154041489	0.995000	0.38212	0.997000	0.53966	0.408000	0.30992	3.236000	0.51336	2.567000	0.86603	0.467000	0.42956	GGC		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		29	89	0	0	0	1	0	29	89				
SETD2	29072	broad.mit.edu	37	3	47058611	47058611	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47058611T>G	ENST00000409792.3	-	21	7709	c.7667A>C	c.(7666-7668)aAa>aCa	p.K2556T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2556	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCTTTGGGTTTGTAAACAGC	0.473			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(7666-7668)aAa>aCa		SET domain containing 2							252.0	244.0	247.0					3																	47058611		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47058611T>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7667A>C	3.37:g.47058611T>G	ENSP00000386759:p.Lys2556Thr						p.K2556T	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	21	7709	-		Acute lymphoblastic leukemia(5;0.0169)	2556			Interaction with POLR2A.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.7667A>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658647	0.67586	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.90197	-2.63	5.05	3.9	0.45041	SRI, Set2 Rpb1 interacting (1);	0.101164	0.43260	D	0.000593	D	0.90689	0.7079	N	0.22421	0.69	0.46167	D	0.998901	D;D	0.63880	0.985;0.993	D;D	0.85130	0.989;0.997	D	0.90614	0.4554	10	0.72032	D	0.01	.	10.7273	0.46077	0.0:0.0747:0.0:0.9253	.	2556;2556	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	2556	ENSP00000386759:K2556T	ENSP00000386759:K2556T	K	-	2	0	SETD2	47033615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.443000	0.59994	0.950000	0.37743	0.533000	0.62120	AAA		0.473	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		3	76	0	0	0	1	0	3	76				
SYF2	25949	broad.mit.edu	37	1	25549895	25549895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25549895C>T	ENST00000236273.4	-	7	619	c.594G>A	c.(592-594)cgG>cgA	p.R198R	SYF2_ENST00000354361.3_Silent_p.R156R	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	198					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AAGGACGTCTCCGGCTATATT	0.343																																						ENST00000236273.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(592-594)cgG>cgA		SYF2 pre-mRNA-splicing factor							150.0	157.0	155.0					1																	25549895		2203	4300	6503	SO:0001819	synonymous_variant	25949					catalytic step 2 spliceosome		g.chr1:25549895C>T	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.594G>A	1.37:g.25549895C>T						SYF2_ENST00000354361.3_Silent_p.R156R	p.R198R	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	7	619	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	198					Q5TH73	Silent	SNP	ENST00000236273.4	37	c.594G>A	CCDS259.1																																																																																				0.343	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		54	81	0	0	0	1	0	54	81				
ADAMDEC1	27299	broad.mit.edu	37	8	24256482	24256482	+	Silent	SNP	G	G	A	rs7018313	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256482G>A	ENST00000256412.4	+	9	1078	c.858G>A	c.(856-858)acG>acA	p.T286T	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.T207T|ADAMDEC1_ENST00000538205.1_Silent_p.T207T	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	286	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAAGCACCACGTTTGACAACT	0.488													G|||	4	0.000798722	0.003	0.0	5008	,	,		19221	0.0		0.0	False		,,,				2504	0.0				Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(619-621)acG>acA		ADAM-like, decysin 1		G	,,	9,4397	15.5+/-35.6	0,9,2194	115.0	104.0	108.0		621,621,858	-10.6	0.0	8	dbSNP_116	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	,,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,,	207/392,207/392,286/471	24256482	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24256482G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.858G>A	8.37:g.24256482G>A						ADAMDEC1_ENST00000522298.1_Silent_p.T207T|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T286T|RP11-624C23.1_ENST00000523578.1_RNA	p.T207T	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	10	1168	+		Prostate(55;0.0181)	286					B7ZAK5	Silent	SNP	ENST00000256412.4	37	c.621G>A	CCDS6044.1																																																																																				0.488	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		33	36	0	0	0	1	0	33	36				
GHR	2690	broad.mit.edu	37	5	42695035	42695035	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42695035A>G	ENST00000230882.4	+	5	473	c.283A>G	c.(283-285)Act>Gct	p.T95A	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.T73A	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	95					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	tcaagaatggactcaagaatg	0.353																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(283-285)Act>Gct		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						115.0	113.0	114.0					5																	42695035		2202	4300	6502	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42695035A>G		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.283A>G	5.37:g.42695035A>G	ENSP00000230882:p.Thr95Ala					GHR_ENST00000357703.3_Missense_Mutation_p.T73A|GHR_ENST00000537449.1_5'UTR	p.T95A	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			5	473	+		Myeloproliferative disorder(839;0.00878)	95					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.283A>G	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	A	6.395	0.440974	0.12164	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.93906	-3.31;-3.31	3.85	2.66	0.31614	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.732373	0.13438	N	0.387888	D	0.84188	0.5417	N	0.20685	0.6	0.21933	N	0.999466	B	0.24675	0.109	B	0.21708	0.036	T	0.72450	-0.4290	10	0.36615	T	0.2	-4.2182	2.1935	0.03905	0.5886:0.1653:0.0872:0.1589	.	95	P10912	GHR_HUMAN	A	95;73;95	ENSP00000230882:T95A;ENSP00000350335:T73A	ENSP00000230882:T95A	T	+	1	0	GHR	42730792	1.000000	0.71417	0.961000	0.40146	0.427000	0.31564	3.046000	0.49846	0.800000	0.34041	0.528000	0.53228	ACT		0.353	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		9	17	0	0	0	1	0	9	17				
RNF150	57484	broad.mit.edu	37	4	141832500	141832500	+	Silent	SNP	G	G	A	rs369968625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832500G>A	ENST00000515673.2	-	6	1029	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RNF150_ENST00000420921.2_Silent_p.A191A|RNF150_ENST00000306799.3_Silent_p.A290A|RNF150_ENST00000507500.1_Silent_p.A332A|RNF150_ENST00000379512.2_Silent_p.A191A			Q9ULK6	RN150_HUMAN	ring finger protein 150	332						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CCATGCAGTCGGCATTGGGCT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16269	0.0		0.0	False		,,,				2504	0.0					ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(868-870)gcC>gcT		ring finger protein 150		G		1,4405	2.1+/-5.4	0,1,2202	70.0	68.0	69.0		996	-5.1	1.0	4		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF150	NM_020724.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		332/439	141832500	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57484					integral to membrane	zinc ion binding	g.chr4:141832500G>A	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.996C>T	4.37:g.141832500G>A						RNF150_ENST00000379512.2_Silent_p.A191A|RNF150_ENST00000507500.1_Silent_p.A332A|RNF150_ENST00000420921.2_Silent_p.A191A|RNF150_ENST00000515673.1_Silent_p.A332A	p.A290A	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN			6	1523	-	all_hematologic(180;0.162)		332					Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	c.870C>T	CCDS34065.1																																																																																				0.478	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		10	18	0	0	0	1	0	10	18				
ADSL	158	broad.mit.edu	37	22	40745935	40745935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745935C>T	ENST00000216194.7	+	2	309	c.253C>T	c.(253-255)Cga>Tga	p.R85*	ADSL_ENST00000454266.2_Nonsense_Mutation_p.R85*|ADSL_ENST00000342312.6_Nonsense_Mutation_p.R85*	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	85	Substrate binding.				'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAACGTTTACGACATGATGT	0.458																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(253-255)Cga>Tga		adenylosuccinate lyase							163.0	123.0	136.0					22																	40745935		2203	4300	6503	SO:0001587	stop_gained	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40745935C>T	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.253C>T	22.37:g.40745935C>T	ENSP00000216194:p.Arg85*					ADSL_ENST00000342312.6_Nonsense_Mutation_p.R85*|ADSL_ENST00000454266.2_Nonsense_Mutation_p.R85*	p.R85*	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			2	309	+			85					B0QY76|O75495|Q5TI34	Nonsense_Mutation	SNP	ENST00000216194.7	37	c.253C>T	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041997	0.93685	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7129	19.6899	0.95996	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000216194:R85X	R	+	1	2	ADSL	39075881	0.996000	0.38824	0.300000	0.25030	0.758000	0.43043	3.541000	0.53618	2.648000	0.89879	0.650000	0.86243	CGA		0.458	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		26	36	0	0	0	1	0	26	36				
FAM171A1	221061	broad.mit.edu	37	10	15296864	15296864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15296864G>A	ENST00000378116.4	-	4	439	c.433C>T	c.(433-435)Cct>Tct	p.P145S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	145						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGAACGCGAGGCTGTGGCCGG	0.552																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(433-435)Cct>Tct		family with sequence similarity 171, member A1							47.0	45.0	46.0					10																	15296864		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15296864G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.433C>T	10.37:g.15296864G>A	ENSP00000367356:p.Pro145Ser						p.P145S	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			4	439	-			145					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.433C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439742	0.83885	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.63744	-0.06	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83564	0.0108	10	0.72032	D	0.01	-17.4323	18.9182	0.92515	0.0:0.0:1.0:0.0	.	145	Q5VUB5	F1711_HUMAN	S	145;146	ENSP00000367356:P145S	ENSP00000367356:P145S	P	-	1	0	FAM171A1	15336870	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.311000	0.89973	2.545000	0.85829	0.650000	0.86243	CCT		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		9	10	0	0	0	1	0	9	10				
RRP7A	27341	broad.mit.edu	37	22	42910712	42910712	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42910712C>T	ENST00000323013.6	-	5	549	c.534G>A	c.(532-534)gaG>gaA	p.E178E	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	178							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCATATGCCTCCATGAACG	0.652																																						ENST00000323013.6																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(532-534)gaG>gaA		ribosomal RNA processing 7 homolog A (S. cerevisiae)							36.0	39.0	38.0					22																	42910712		2202	4297	6499	SO:0001819	synonymous_variant	27341						nucleotide binding|RNA binding	g.chr22:42910712C>T	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.534G>A	22.37:g.42910712C>T							p.E178E	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN			5	549	-			178					A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	c.534G>A	CCDS14036.1																																																																																				0.652	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		6	17	0	0	0	1	0	6	17				
BACH2	60468	broad.mit.edu	37	6	90660619	90660619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90660619C>T	ENST00000257749.4	-	7	1913	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	BACH2_ENST00000343122.3_Silent_p.V402V|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.V402V|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	402						cytoplasm (GO:0005737)|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 negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGAAGTTGGACACCTCCTTCT	0.582																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1204-1206)gtG>gtA		BTB and CNC homology 1, basic leucine zipper transcription factor 2							25.0	27.0	26.0					6																	90660619		2153	4214	6367	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660619C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1206G>A	6.37:g.90660619C>T						RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.V402V|BACH2_ENST00000537989.1_Silent_p.V402V	p.V402V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1913	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	402					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1206G>A	CCDS5026.1																																																																																				0.582	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		16	24	0	0	0	1	0	16	24				
PRDM16	63976	broad.mit.edu	37	1	3322124	3322124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3322124C>T	ENST00000270722.5	+	8	1147	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	PRDM16_ENST00000442529.2_Silent_p.H366H|PRDM16_ENST00000511072.1_Silent_p.H367H|PRDM16_ENST00000378398.3_Silent_p.H367H|PRDM16_ENST00000514189.1_Silent_p.H367H|PRDM16_ENST00000441472.2_Silent_p.H366H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.H366H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	366					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTCGGGCCCACGCCTGCCCCG	0.662			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1099-1101)caC>caT		PR domain containing 16							32.0	39.0	37.0					1																	3322124		2196	4290	6486	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3322124C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1098C>T	1.37:g.3322124C>T						PRDM16_ENST00000511072.1_Silent_p.H367H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.H367H|PRDM16_ENST00000442529.2_Silent_p.H366H|PRDM16_ENST00000441472.2_Silent_p.H366H|PRDM16_ENST00000378391.2_Silent_p.H366H|PRDM16_ENST00000270722.5_Silent_p.H366H	p.H367H			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	9	1183	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	366					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1101C>T	CCDS41236.2																																																																																				0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		12	18	0	0	0	1	0	12	18				
MEX3D	399664	broad.mit.edu	37	19	1556539	1556539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1556539C>T	ENST00000402693.4	-	2	978	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	MEX3D_ENST00000388824.6_Missense_Mutation_p.V327M|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	327	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGTCCACGTTCTCGGGC	0.697																																						ENST00000402693.4																			0				endometrium(1)|lung(3)	4						c.(979-981)Gtg>Atg		mex-3 RNA binding family member D							22.0	23.0	22.0					19																	1556539		2197	4295	6492	SO:0001583	missense	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556539C>T	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.979G>A	19.37:g.1556539C>T	ENSP00000384398:p.Val327Met					MEX3D_ENST00000388824.6_Missense_Mutation_p.V327M	p.V327M	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	978	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	327			KH 2.		A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	37	c.979G>A	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017389	0.75161	.	.	ENSG00000181588	ENST00000402693;ENST00000388824	T;T	0.45668	0.89;0.89	4.61	4.61	0.57282	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.68568	0.3015	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75808	-0.3187	10	0.87932	D	0	-24.4616	16.4135	0.83727	0.0:1.0:0.0:0.0	.	327	Q86XN8	MEX3D_HUMAN	M	327	ENSP00000384398:V327M;ENSP00000373476:V327M	ENSP00000373476:V327M	V	-	1	0	MEX3D	1507539	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.445000	0.80570	2.120000	0.65058	0.313000	0.20887	GTG		0.697	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		4	14	0	0	0	1	0	4	14				
PFKL	5211	broad.mit.edu	37	21	45745112	45745112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45745112G>A	ENST00000349048.4	+	19	2009	c.1954G>A	c.(1954-1956)Gac>Aac	p.D652N	PFKL_ENST00000403390.1_Missense_Mutation_p.D699N	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	652	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGCGTCTTCGACTGCAGGAC	0.622																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(2095-2097)Gac>Aac		phosphofructokinase, liver							89.0	70.0	76.0					21																	45745112		2203	4300	6503	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45745112G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1954G>A	21.37:g.45745112G>A	ENSP00000269848:p.Asp652Asn					PFKL_ENST00000349048.4_Missense_Mutation_p.D652N	p.D699N			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	20	2095	+			652					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.2095G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974126	0.74246	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.80824	-1.42;-1.42	4.61	4.61	0.57282	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.95745	3.715	0.58432	D	0.999999	D;D	0.89917	0.96;1.0	P;D	0.91635	0.503;0.999	D	0.94967	0.8113	10	0.87932	D	0	-57.3171	16.191	0.81989	0.0:0.0:1.0:0.0	.	652;699	P17858;P17858-2	K6PL_HUMAN;.	N	652;445;699	ENSP00000269848:D652N;ENSP00000384038:D699N	ENSP00000269848:D652N	D	+	1	0	PFKL	44569540	1.000000	0.71417	0.907000	0.35723	0.053000	0.15095	9.272000	0.95707	2.118000	0.64928	0.491000	0.48974	GAC		0.622	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			17	12	0	0	0	1	0	17	12				
TNS1	7145	broad.mit.edu	37	2	218745683	218745683	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218745683T>C	ENST00000171887.4	-	16	1444	c.992A>G	c.(991-993)gAc>gGc	p.D331G	TNS1_ENST00000430930.1_Missense_Mutation_p.D331G|TNS1_ENST00000419504.1_Missense_Mutation_p.D331G|TNS1_ENST00000310858.6_Missense_Mutation_p.D362G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	331					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATGAGGGGGTCGGAGGTGTT	0.607																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(991-993)gAc>gGc		tensin 1							132.0	108.0	116.0					2																	218745683		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218745683T>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.992A>G	2.37:g.218745683T>C	ENSP00000171887:p.Asp331Gly					TNS1_ENST00000419504.1_Missense_Mutation_p.D331G|TNS1_ENST00000430930.1_Missense_Mutation_p.D331G|TNS1_ENST00000310858.6_Missense_Mutation_p.D362G	p.D331G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	16	1444	-		Renal(207;0.0483)|Lung NSC(271;0.213)	331					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.992A>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634122	0.87660	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.96856	-3.43;-3.42;-3.43;-3.81;-4.15;-4.13	4.98	4.98	0.66077	.	0.053363	0.64402	D	0.000001	D	0.97349	0.9133	M	0.82323	2.585	0.58432	D	0.999996	D;P;P;P;D;P	0.62365	0.991;0.737;0.945;0.947;0.982;0.919	P;B;B;P;B;B	0.56163	0.793;0.42;0.437;0.507;0.388;0.297	D	0.97815	1.0253	10	0.87932	D	0	.	13.0707	0.59059	0.0:0.0:0.0:1.0	.	331;385;362;331;331;331	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	G	331;331;331;456;399;362	ENSP00000171887:D331G;ENSP00000408724:D331G;ENSP00000406016:D331G;ENSP00000405460:D456G;ENSP00000400383:D399G;ENSP00000308321:D362G	ENSP00000171887:D331G	D	-	2	0	TNS1	218453928	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.481000	0.81124	2.101000	0.63845	0.459000	0.35465	GAC		0.607	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		12	34	0	0	0	1	0	12	34				
WDR1	9948	broad.mit.edu	37	4	10099412	10099412	+	Missense_Mutation	SNP	G	G	A	rs373592999		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10099412G>A	ENST00000499869.2	-	5	674	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Missense_Mutation_p.R161W			O75083	WDR1_HUMAN	WD repeat domain 1	161					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTGGCCAGCCGGTATGGCCGG	0.517																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(481-483)Cgg>Tgg		WD repeat domain 1		G	,TRP/ARG	0,3926		0,0,1963	65.0	69.0	68.0		,481	3.8	1.0	4		68	1,8309		0,1,4154	no	intron,missense	WDR1	NM_005112.4,NM_017491.3	,101	0,1,6117	AA,AG,GG		0.012,0.0,0.0082	,probably-damaging	,161/607	10099412	1,12235	1963	4155	6118	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10099412G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.481C>T	4.37:g.10099412G>A	ENSP00000427687:p.Arg161Trp					WDR1_ENST00000499869.2_Missense_Mutation_p.R161W|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron	p.R161W	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	5	763	-			161					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.481C>T	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481410	0.84747	0.0	1.2E-4	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.60548	0.18;0.18;0.18	5.56	3.78	0.43462	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.115379	0.64402	D	0.000012	T	0.78966	0.4367	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.82222	-0.0564	10	0.87932	D	0	-29.6942	12.3638	0.55217	0.0:0.0:0.6933:0.3067	.	161	O75083	WDR1_HUMAN	W	161;161;165	ENSP00000427687:R161W;ENSP00000371890:R161W;ENSP00000425481:R165W	ENSP00000371890:R161W	R	-	1	2	WDR1	9708510	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	4.408000	0.59761	0.653000	0.30826	0.563000	0.77884	CGG		0.517	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			3	42	0	0	0	1	0	3	42				
PASK	23178	broad.mit.edu	37	2	242046007	242046007	+	Missense_Mutation	SNP	C	C	T	rs534349867	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242046007C>T	ENST00000405260.1	-	18	4644	c.3946G>A	c.(3946-3948)Ggg>Agg	p.G1316R	PASK_ENST00000234040.4_Missense_Mutation_p.G1316R|PASK_ENST00000475666.1_5'Flank|PASK_ENST00000358649.4_Missense_Mutation_p.G1323R|PASK_ENST00000544142.1_Missense_Mutation_p.G1130R|PASK_ENST00000539818.1_Missense_Mutation_p.G1100R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1316					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGGGATCCCCGGGATGCAAA	0.552													C|||	3	0.000599042	0.0	0.0	5008	,	,		16469	0.0		0.0	False		,,,				2504	0.0031					ENST00000405260.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3946-3948)Ggg>Agg		PAS domain containing serine/threonine kinase							123.0	140.0	134.0					2																	242046007		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242046007C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3946G>A	2.37:g.242046007C>T	ENSP00000384016:p.Gly1316Arg					PASK_ENST00000539818.1_Missense_Mutation_p.G1100R|PASK_ENST00000544142.1_Missense_Mutation_p.G1130R|PASK_ENST00000358649.4_Missense_Mutation_p.G1323R|PASK_ENST00000234040.4_Missense_Mutation_p.G1316R	p.G1316R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	18	4644	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1316					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3946G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	0.121	-1.125043	0.01770	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.2;-0.25	2.84	-1.46	0.08800	.	.	.	.	.	T	0.29652	0.0740	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.15930	0.009;0.015;0.015;0.009	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.25779	-1.0122	9	0.10902	T	0.67	.	6.5929	0.22656	0.0:0.4479:0.0:0.5521	.	1281;1130;1323;1316	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	R	1316;1130;1316;1323;1100	ENSP00000234040:G1316R;ENSP00000441374:G1130R;ENSP00000384016:G1316R;ENSP00000351475:G1323R;ENSP00000443083:G1100R	ENSP00000234040:G1316R	G	-	1	0	PASK	241694680	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.883000	0.04170	-0.392000	0.07751	-0.808000	0.03180	GGG		0.552	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		52	98	0	0	0	1	0	52	98				
RPL36	25873	broad.mit.edu	37	19	5691360	5691360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5691360G>A	ENST00000577222.1	+	5	668	c.124G>A	c.(124-126)Gac>Aac	p.D42N	RPL36_ENST00000394580.2_Missense_Mutation_p.D42N|RPL36_ENST00000347512.3_Missense_Mutation_p.D42N|RPL36_ENST00000579649.1_Missense_Mutation_p.D42N|RPL36_ENST00000579446.1_Missense_Mutation_p.D42N			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	42					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GTTCGTGCGGGACATGATTCG	0.577											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(124-126)Gac>Aac		ribosomal protein L36							78.0	78.0	78.0					19																	5691360		2203	4300	6503	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691360G>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.124G>A	19.37:g.5691360G>A	ENSP00000464342:p.Asp42Asn		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000394580.2_Missense_Mutation_p.D42N|RPL36_ENST00000579649.1_Missense_Mutation_p.D42N|RPL36_ENST00000579446.1_Missense_Mutation_p.D42N|RPL36_ENST00000347512.3_Missense_Mutation_p.D42N	p.D42N			Q9Y3U8	RL36_HUMAN			5	668	+			42					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.124G>A	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078242	0.76528	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.45668	0.89;0.89	4.07	4.07	0.47477	.	0.056751	0.64402	N	0.000002	T	0.55194	0.1905	M	0.86178	2.8	0.80722	D	1	P	0.37441	0.595	P	0.44477	0.451	T	0.62751	-0.6788	10	0.51188	T	0.08	.	13.7528	0.62917	0.0:0.0:1.0:0.0	.	42	Q9Y3U8	RL36_HUMAN	N	42	ENSP00000252543:D42N;ENSP00000378081:D42N	ENSP00000252543:D42N	D	+	1	0	RPL36	5642360	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.695000	0.84257	1.821000	0.53095	0.467000	0.42956	GAC		0.577	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		24	53	0	0	0	1	0	24	53				
NLRP8	126205	broad.mit.edu	37	19	56487536	56487536	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56487536G>T	ENST00000291971.3	+	8	2814	c.2743G>T	c.(2743-2745)Gat>Tat	p.D915Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.D896Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	915					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCTGTCAGGATATGATCTC	0.398																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2743-2745)Gat>Tat		NLR family, pyrin domain containing 8							116.0	110.0	112.0					19																	56487536		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56487536G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2743G>T	19.37:g.56487536G>T	ENSP00000291971:p.Asp915Tyr					NLRP8_ENST00000590542.1_Missense_Mutation_p.D896Y	p.D915Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2814	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	915					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2743G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.053	-0.417270	0.04766	.	.	ENSG00000179709	ENST00000291971	T	0.52754	0.65	2.67	2.67	0.31697	.	.	.	.	.	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	B;P	0.42375	0.057;0.778	B;B	0.41466	0.064;0.358	T	0.03981	-1.0987	9	0.14656	T	0.56	.	8.9897	0.36017	0.0:0.0:1.0:0.0	.	896;915	Q86W28-2;Q86W28	.;NALP8_HUMAN	Y	915	ENSP00000291971:D915Y	ENSP00000291971:D915Y	D	+	1	0	NLRP8	61179348	0.013000	0.17824	0.010000	0.14722	0.058000	0.15608	0.595000	0.24029	1.827000	0.53221	0.514000	0.50259	GAT		0.398	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		38	55	1	0	3.09479e-21	1	4.07014e-21	38	55				
GTPBP10	85865	broad.mit.edu	37	7	90012310	90012310	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90012310C>T	ENST00000222511.6	+	9	884	c.818C>T	c.(817-819)gCa>gTa	p.A273V	GTPBP10_ENST00000257659.8_Missense_Mutation_p.A194V	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	273	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACAAAACCTGCACTCTTGGCA	0.353																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(817-819)gCa>gTa		GTP-binding protein 10 (putative)							89.0	90.0	90.0					7																	90012310		2203	4300	6503	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:90012310C>T		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.818C>T	7.37:g.90012310C>T	ENSP00000222511:p.Ala273Val					GTPBP10_ENST00000257659.8_Missense_Mutation_p.A194V	p.A273V	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			9	884	+			273					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.818C>T	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882830	0.91740	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.14022	2.54;2.54;2.54	5.72	5.72	0.89469	GTP-binding domain, HSR1-related (1);	0.102733	0.64402	D	0.000004	T	0.24470	0.0593	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.992;0.972	P;P	0.61592	0.891;0.825	T	0.00647	-1.1628	9	.	.	.	0.0152	20.2302	0.98348	0.0:1.0:0.0:0.0	.	194;273	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	V	194;273;200	ENSP00000257659:A194V;ENSP00000222511:A273V;ENSP00000416596:A200V	.	A	+	2	0	GTPBP10	89850246	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.244000	0.78228	2.859000	0.98148	0.591000	0.81541	GCA		0.353	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		13	131	0	0	0	1	0	13	131				
HPX	3263	broad.mit.edu	37	11	6458289	6458289	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6458289G>A	ENST00000265983.3	-	7	922	c.822C>T	c.(820-822)acC>acT	p.T274T	HPX_ENST00000525057.1_5'Flank	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	274					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGAAGGCATAGGTGGCACCAT	0.517																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(820-822)acC>acT		hemopexin							175.0	132.0	147.0					11																	6458289		2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6458289G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.822C>T	11.37:g.6458289G>A							p.T274T	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	7	922	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	274			Hemopexin-like 4.		B2R957	Silent	SNP	ENST00000265983.3	37	c.822C>T	CCDS7763.1																																																																																				0.517	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		24	57	0	0	0	1	0	24	57				
NPC1L1	29881	broad.mit.edu	37	7	44575999	44575999	+	Silent	SNP	C	C	A	rs200133680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44575999C>A	ENST00000289547.4	-	4	1765	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	NPC1L1_ENST00000423141.1_Silent_p.L570L|NPC1L1_ENST00000381160.3_Silent_p.L570L|NPC1L1_ENST00000546276.1_Silent_p.L570L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	570					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACGTCATGATCAGGGCCTCTG	0.587																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1708-1710)ctG>ctT		NPC1-like 1	Ezetimibe(DB00973)						78.0	81.0	80.0					7																	44575999		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575999C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1710G>T	7.37:g.44575999C>A						NPC1L1_ENST00000381160.3_Silent_p.L570L|NPC1L1_ENST00000423141.1_Silent_p.L570L|NPC1L1_ENST00000546276.1_Silent_p.L570L	p.L570L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1765	-			570					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1710G>T	CCDS5491.1																																																																																				0.587	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	72	1	0	0.014758	1	0.0152625	4	72				
AHI1	54806	broad.mit.edu	37	6	135787489	135787489	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135787489A>T	ENST00000367800.4	-	5	428	c.212T>A	c.(211-213)cTt>cAt	p.L71H	AHI1_ENST00000457866.2_Missense_Mutation_p.L71H|AHI1_ENST00000327035.6_Missense_Mutation_p.L71H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	71					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.L71P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATATGGGGAAGATTGCTTCT	0.328																																						ENST00000367800.4																			1	Substitution - Missense(1)	p.L71P(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(211-213)cTt>cAt		Abelson helper integration site 1							218.0	200.0	205.0					6																	135787489		1845	4098	5943	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787489A>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.212T>A	6.37:g.135787489A>T	ENSP00000356774:p.Leu71His					AHI1_ENST00000457866.2_Missense_Mutation_p.L71H|AHI1_ENST00000327035.6_Missense_Mutation_p.L71H	p.L71H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	428	-	Breast(56;0.239)|Colorectal(23;0.24)		71					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.212T>A	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942934	0.34283	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.54071	0.79;0.79;0.79;1.66;0.59	5.37	-0.182	0.13287	.	0.660669	0.12963	N	0.424802	T	0.24967	0.0606	L	0.54323	1.7	0.80722	D	1	B;B	0.18461	0.028;0.016	B;B	0.23150	0.044;0.019	T	0.25847	-1.0120	10	0.72032	D	0.01	-0.9998	3.1018	0.06328	0.6368:0.1186:0.1306:0.114	.	71;71	Q8N157-2;Q8N157	.;AHI1_HUMAN	H	71;71;71;71;71;53	ENSP00000356774:L71H;ENSP00000388650:L71H;ENSP00000265602:L71H;ENSP00000322478:L71H;ENSP00000433063:L53H	ENSP00000265602:L71H	L	-	2	0	AHI1	135829182	1.000000	0.71417	0.437000	0.26809	0.002000	0.02628	2.207000	0.42788	0.100000	0.17581	-0.438000	0.05819	CTT		0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		8	200	0	0	0	1	0	8	200				
KRT16	3868	broad.mit.edu	37	17	39766687	39766687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766687C>A	ENST00000301653.4	-	6	1240	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	392	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCTGCTCCATCTCACAGCGTA	0.617																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1174-1176)gaG>gaT		keratin 16							79.0	77.0	78.0					17																	39766687		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39766687C>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1176G>T	17.37:g.39766687C>A	ENSP00000301653:p.Glu392Asp						p.E392D	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			6	1240	-		Breast(137;0.000307)	392			Coil 2.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.1176G>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	1.209	-0.630274	0.03610	.	.	ENSG00000186832	ENST00000301653	D	0.89617	-2.54	4.03	3.05	0.35203	Filament (1);	0.000000	0.49916	D	0.000128	T	0.73791	0.3632	N	0.10972	0.075	0.27826	N	0.941639	B	0.15719	0.014	B	0.28139	0.086	T	0.59478	-0.7447	10	0.02654	T	1	.	7.8209	0.29286	0.0:0.6197:0.2929:0.0874	.	392	P08779	K1C16_HUMAN	D	392	ENSP00000301653:E392D	ENSP00000301653:E392D	E	-	3	2	KRT16	37020213	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	0.656000	0.24948	1.036000	0.39998	0.462000	0.41574	GAG		0.617	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		6	87	1	0	0.0215528	1	0.0221649	6	87				
GOLGA1	2800	broad.mit.edu	37	9	127674201	127674201	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127674201G>A	ENST00000373555.4	-	11	1281	c.948C>T	c.(946-948)caC>caT	p.H316H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	316					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTTCTTGCAAGTGTTCTTCTC	0.438																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(946-948)caC>caT		golgin A1							232.0	205.0	214.0					9																	127674201		2203	4300	6503	SO:0001819	synonymous_variant	2800					Golgi cisterna membrane		g.chr9:127674201G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.948C>T	9.37:g.127674201G>A							p.H316H	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			11	1281	-			316					Q5T164|Q8IYZ9	Silent	SNP	ENST00000373555.4	37	c.948C>T	CCDS6860.1																																																																																				0.438	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		8	80	0	0	0	1	0	8	80				
PROX2	283571	broad.mit.edu	37	14	75329592	75329592	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329592T>C	ENST00000445876.1	-	1	945	c.946A>G	c.(946-948)Atc>Gtc	p.I316V	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Missense_Mutation_p.I316V			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	316					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTTGGAGGGATAGGGTACCTA	0.527																																						ENST00000556489.2																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(946-948)Atc>Gtc		prospero homeobox 2							82.0	86.0	85.0					14																	75329592		1859	4113	5972	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329592T>C		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.946A>G	14.37:g.75329592T>C	ENSP00000405932:p.Ile316Val					PROX2_ENST00000445876.1_Missense_Mutation_p.I316V|PROX2_ENST00000556084.2_Intron	p.I316V	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	945	-			316					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.946A>G	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	T	0.572	-0.840602	0.02692	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.39592	1.07;1.07	5.48	-2.16	0.07080	.	1.160560	0.06459	N	0.729077	T	0.16642	0.0400	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24476	-1.0159	10	0.15066	T	0.55	0.041	7.1231	0.25456	0.0:0.2896:0.1779:0.5325	.	316	G3V3G0	.	V	316	ENSP00000451223:I316V;ENSP00000405932:I316V	ENSP00000374315:I316V	I	-	1	0	PROX2	74399345	0.000000	0.05858	0.004000	0.12327	0.895000	0.52256	-0.108000	0.10857	-0.080000	0.12685	0.454000	0.30748	ATC		0.527	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	92	0	0	0	1	0	4	92				
C8orf76	84933	broad.mit.edu	37	8	124243798	124243798	+	Missense_Mutation	SNP	G	G	A	rs149988027	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124243798G>A	ENST00000276704.4	-	4	608	c.557C>T	c.(556-558)gCg>gTg	p.A186V	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A154V	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	186										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAGATGACGCAAGTGCTGC	0.443																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(556-558)gCg>gTg		chromosome 8 open reading frame 76		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	143.0	151.0	148.0		461,557	3.1	0.3	8	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C8orf76,ZHX1-C8ORF76	NM_001204180.1,NM_032847.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	154/293,186/381	124243798	1,13005	2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124243798G>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.557C>T	8.37:g.124243798G>A	ENSP00000276704:p.Ala186Val					ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A154V|C8orf76_ENST00000521310.1_5'UTR	p.A186V	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	608	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		186					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.557C>T	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753616	0.15778	0.0	1.16E-4	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	4.88	3.07	0.35406	.	0.683347	0.15377	N	0.265504	T	0.26376	0.0644	L	0.31294	0.92	0.09310	N	1	B;B	0.23490	0.086;0.086	B;B	0.17722	0.019;0.019	T	0.15292	-1.0442	9	0.29301	T	0.29	-0.4783	5.3922	0.16249	0.1713:0.0:0.6646:0.1642	.	154;186	Q96EF9;Q96K31	.;CH076_HUMAN	V	186;154	.	ENSP00000276704:A186V	A	-	2	0	C8orf76	124312979	0.001000	0.12720	0.350000	0.25708	0.339000	0.28857	0.795000	0.26972	0.652000	0.30806	0.655000	0.94253	GCG		0.443	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		43	76	0	0	0	1	0	43	76				
NUAK1	9891	broad.mit.edu	37	12	106460869	106460869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460869C>T	ENST00000261402.2	-	7	3076	c.1697G>A	c.(1696-1698)aGc>aAc	p.S566N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	566					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.S566I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGAAGGGCGGCTGTAGCTCCG	0.637																																						ENST00000261402.2																			2	Substitution - Missense(2)	p.S566I(2)	lung(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1696-1698)aGc>aAc		NUAK family, SNF1-like kinase, 1							33.0	39.0	37.0					12																	106460869		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460869C>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1697G>A	12.37:g.106460869C>T	ENSP00000261402:p.Ser566Asn						p.S566N	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3076	-			566					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1697G>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074966	0.94000	.	.	ENSG00000074590	ENST00000261402	T	0.77229	-1.08	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	D	0.86657	0.5985	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.87396	0.2366	10	0.72032	D	0.01	.	19.7554	0.96287	0.0:1.0:0.0:0.0	.	566	O60285	NUAK1_HUMAN	N	566	ENSP00000261402:S566N	ENSP00000261402:S566N	S	-	2	0	NUAK1	104984999	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.487000	0.81328	2.665000	0.90641	0.563000	0.77884	AGC		0.637	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		15	19	0	0	0	1	0	15	19				
SLC16A9	220963	broad.mit.edu	37	10	61413727	61413727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413727T>C	ENST00000395348.3	-	5	1693	c.1057A>G	c.(1057-1059)Aca>Gca	p.T353A	SLC16A9_ENST00000395347.1_Missense_Mutation_p.T353A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	353					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAACTGCTGTCATAATGCCT	0.378																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(1057-1059)Aca>Gca		solute carrier family 16, member 9							93.0	86.0	89.0					10																	61413727		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61413727T>C	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1057A>G	10.37:g.61413727T>C	ENSP00000378757:p.Thr353Ala					SLC16A9_ENST00000395347.1_Missense_Mutation_p.T353A	p.T353A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			5	1693	-			353					Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.1057A>G	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210324	0.39003	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.55760	0.5;0.5	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046546	0.85682	D	0.000000	T	0.48995	0.1531	L	0.41027	1.25	0.80722	D	1	P	0.41978	0.767	B	0.43331	0.416	T	0.49643	-0.8918	10	0.42905	T	0.14	.	14.5707	0.68208	0.0:0.0:0.0:1.0	.	353	Q7RTY1	MOT9_HUMAN	A	353	ENSP00000378757:T353A;ENSP00000378756:T353A	ENSP00000378756:T353A	T	-	1	0	SLC16A9	61083733	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.618000	0.61211	1.837000	0.53436	0.482000	0.46254	ACA		0.378	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		31	40	0	0	0	1	0	31	40				
THAP6	152815	broad.mit.edu	37	4	76447088	76447088	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76447088C>A	ENST00000311638.3	+	4	482				THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000380837.3_Intron|THAP6_ENST00000514480.1_Intron|THAP6_ENST00000508105.1_Missense_Mutation_p.A103D	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6							microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAATTACTTGCTGAGCTCATG	0.338																																						ENST00000508105.1																			0				lung(5)	5						c.(307-309)gCt>gAt		THAP domain containing 6							113.0	112.0	112.0					4																	76447088		2203	4300	6503	SO:0001627	intron_variant	152815					microtubule cytoskeleton	DNA binding|metal ion binding	g.chr4:76447088C>A	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"""THAP (C2CH-type zinc finger) domain containing"""	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.414+17C>A	4.37:g.76447088C>A						THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000380837.3_Intron|THAP6_ENST00000311638.3_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Intron|THAP6_ENST00000507556.1_Intron	p.A103D			Q8TBB0	THAP6_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	399	+			0					B4E146|Q5HYJ7|Q5JPC6	Missense_Mutation	SNP	ENST00000311638.3	37	c.308C>A	CCDS3568.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.422758	0.25639	.	.	ENSG00000174796	ENST00000508105	.	.	.	5.16	2.19	0.27852	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.09310	N	0.999999	B	0.17667	0.023	B	0.20384	0.029	T	0.21895	-1.0232	6	.	.	.	.	6.5399	0.22375	0.0:0.5474:0.3565:0.0961	.	103	D6REL7	.	D	103	.	.	A	+	2	0	THAP6	76666112	0.024000	0.19004	0.011000	0.14972	0.273000	0.26683	-0.002000	0.12924	0.786000	0.33708	0.655000	0.94253	GCT		0.338	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		25	57	1	0	2.79863e-10	1	3.44159e-10	25	57				
TNFRSF1B	7133	broad.mit.edu	37	1	12248851	12248851	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12248851A>G	ENST00000376259.3	+	2	167		c.e2-1		TNFRSF1B_ENST00000492361.1_Intron|MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000536782.1_Splice_Site	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B						aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	TCTTCCTTCCAGGTGGCATTT	0.617																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e2-1		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						61.0	60.0	60.0					1																	12248851		2203	4300	6503	SO:0001630	splice_region_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12248851A>G	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.79-1A>G	1.37:g.12248851A>G						TNFRSF1B_ENST00000536782.1_Splice_Site|TNFRSF1B_ENST00000492361.1_Intron		NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	2	167	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)						B1AJZ3|Q16042|Q6YI29|Q9UIH1	Splice_Site	SNP	ENST00000376259.3	37		CCDS145.1	.	.	.	.	.	.	.	.	.	.	A	8.433	0.849096	0.17034	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	.	.	.	3.16	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.26993	N	0.965098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0656	0.14580	0.7351:0.0:0.0:0.2649	.	.	.	.	.	-1	.	.	.	+	.	.	TNFRSF1B	12171438	0.866000	0.29940	0.428000	0.26697	0.047000	0.14425	2.317000	0.43770	1.460000	0.47911	0.397000	0.26171	.		0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066	Intron	15	32	0	0	0	1	0	15	32				
SHBG	6462	broad.mit.edu	37	17	7536191	7536191	+	Missense_Mutation	SNP	C	C	T	rs376443864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536191C>T	ENST00000380450.4	+	7	1005	c.974C>T	c.(973-975)gCc>gTc	p.A325V	SHBG_ENST00000575903.1_Missense_Mutation_p.A307V|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.A267V|SHBG_ENST00000572262.1_Missense_Mutation_p.A213V|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000441599.2_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	325	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	AAGATGAAGGCCCTTGCCCTG	0.602											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(973-975)gCc>gTc		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						81.0	69.0	73.0					17																	7536191		2203	4300	6503	SO:0001583	missense	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7536191C>T		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.974C>T	17.37:g.7536191C>T	ENSP00000369816:p.Ala325Val		OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	SHBG_ENST00000575903.1_Missense_Mutation_p.A307V|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.A213V|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.A267V|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron	p.A325V	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	7	1005	+		all_cancers(10;0.0867)	325			Laminin G-like 2.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	c.974C>T	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	c	1.806	-0.475878	0.04414	.	.	ENSG00000129214	ENST00000380450	T	0.78364	-1.17	4.79	0.0646	0.14354	Concanavalin A-like lectin/glucanase (1);	0.930404	0.09017	N	0.860628	T	0.54029	0.1833	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34502	-0.9826	10	0.15066	T	0.55	-6.2664	7.375	0.26823	0.0:0.3899:0.0:0.6101	.	325	P04278	SHBG_HUMAN	V	325	ENSP00000369816:A325V	ENSP00000369816:A325V	A	+	2	0	SHBG	7476916	0.015000	0.18098	0.017000	0.16124	0.019000	0.09904	-0.189000	0.09629	0.068000	0.16574	-0.404000	0.06349	GCC		0.602	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		15	22	0	0	0	1	0	15	22				
ANKS6	203286	broad.mit.edu	37	9	101518861	101518861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101518861G>A	ENST00000353234.4	-	12	2214	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	ANKS6_ENST00000375019.2_Missense_Mutation_p.P422S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P724S|ANKS6_ENST00000540940.1_Missense_Mutation_p.P528S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	723	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTCCAGATGGAGGCCTTTTG	0.512																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2167-2169)Cca>Tca		ankyrin repeat and sterile alpha motif domain containing 6							89.0	95.0	93.0					9																	101518861		1968	4148	6116	SO:0001583	missense	203286							g.chr9:101518861G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2167C>T	9.37:g.101518861G>A	ENSP00000297837:p.Pro723Ser					ANKS6_ENST00000540940.1_Missense_Mutation_p.P528S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P724S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P422S	p.P723S			Q68DC2	ANKS6_HUMAN			12	2214	-		Acute lymphoblastic leukemia(62;0.0527)	723			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2167C>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.407|6.407	0.443206|0.443206	0.12164|0.12164	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.69306|.	1.8;-0.34;-0.39;2.07|.	5.36|5.36	2.5|2.5	0.30297|0.30297	.|.	0.495277|.	0.22655|.	N|.	0.057262|.	T|T	0.36771|0.36771	0.0979|0.0979	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.26845|.	0.161;0.1|.	B;B|.	0.26770|.	0.073;0.033|.	T|T	0.22173|0.22173	-1.0224|-1.0224	10|5	0.56958|.	D|.	0.05|.	-5.6948|-5.6948	7.0322|7.0322	0.24972|0.24972	0.1613:0.1427:0.696:0.0|0.1613:0.1427:0.696:0.0	.|.	724;723|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	S|F	422;724;723;528|192	ENSP00000364159:P422S;ENSP00000364158:P724S;ENSP00000297837:P723S;ENSP00000442189:P528S|.	ENSP00000297837:P723S|.	P|S	-|-	1|2	0|0	ANKS6|ANKS6	100558682|100558682	1.000000|1.000000	0.71417|0.71417	0.056000|0.056000	0.19401|0.19401	0.278000|0.278000	0.26855|0.26855	4.173000|4.173000	0.58249|0.58249	0.250000|0.250000	0.21479|0.21479	0.484000|0.484000	0.47621|0.47621	CCA|TCC		0.512	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		23	29	0	0	0	1	0	23	29				
GAS6	2621	broad.mit.edu	37	13	114535710	114535710	+	Missense_Mutation	SNP	C	C	T	rs200207558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114535710C>T	ENST00000327773.6	-	9	996	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	GAS6_ENST00000357389.3_Missense_Mutation_p.V327M|GAS6_ENST00000418959.3_De_novo_Start_InFrame|GAS6_ENST00000450766.1_Missense_Mutation_p.V11M|GAS6_ENST00000355761.4_Missense_Mutation_p.V230M|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	327					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAAGGGCACGCACGGCAAG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		14984	0.0		0.001	False		,,,				2504	0.0					ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(979-981)Gtg>Atg		growth arrest-specific 6		C	MET/VAL,MET/VAL,	0,4402		0,0,2201	136.0	86.0	103.0		850,31,	3.7	1.0	13		103	4,8582	3.7+/-12.6	0,4,4289	yes	missense,missense,utr-5	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	21,21,	0,4,6490	TT,TC,CC		0.0466,0.0,0.0308	benign,benign,	284/679,11/406,	114535710	4,12984	2201	4293	6494	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114535710C>T		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.850G>A	13.37:g.114535710C>T	ENSP00000331831:p.Val284Met					GAS6_ENST00000355761.4_Missense_Mutation_p.V230M|GAS6_ENST00000418959.3_De_novo_Start_InFrame|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.V284M|GAS6_ENST00000450766.1_Missense_Mutation_p.V11M	p.V327M			Q14393	GAS6_HUMAN			9	1131	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	327					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.979G>A	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057294	0.55325	0.0	4.66E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000327773	D;T;T;T	0.91686	-2.89;-1.37;-1.37;-1.37	4.75	3.68	0.42216	.	.	.	.	.	D	0.86768	0.6012	L	0.36672	1.1	0.80722	D	1	P;D	0.57257	0.756;0.979	B;B	0.41571	0.051;0.36	D	0.87293	0.2300	9	0.62326	D	0.03	-32.9183	10.516	0.44889	0.0:0.8274:0.0:0.1726	.	11;284	B3KVL4;Q14393-2	.;.	M	327;230;11;284	ENSP00000349962:V327M;ENSP00000348003:V230M;ENSP00000416498:V11M;ENSP00000331831:V284M	ENSP00000331831:V284M	V	-	1	0	GAS6	113578233	1.000000	0.71417	0.958000	0.39756	0.868000	0.49771	3.284000	0.51708	2.169000	0.68431	0.462000	0.41574	GTG		0.687	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		6	49	0	0	0	1	0	6	49				
NSD1	64324	broad.mit.edu	37	5	176638615	176638615	+	Missense_Mutation	SNP	G	G	A	rs28932180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176638615G>A	ENST00000439151.2	+	5	3260	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R803Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R969Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R803Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1072					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGGAGACCGAGAACGTGGA	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3214-3216)cGa>cAa		nuclear receptor binding SET domain protein 1		G	GLN/ARG,GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	118.0	128.0	124.0		3215,2408	-0.2	0.1	5	dbSNP_125	124	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	NSD1	NM_022455.4,NM_172349.2	43,43	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	benign,benign	1072/2697,803/2428	176638615	5,13001	2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638615G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3215G>A	5.37:g.176638615G>A	ENSP00000395929:p.Arg1072Gln	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.R803Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R969Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R803Q	p.R1072Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3260	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1072					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3215G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061099	0.36373	4.54E-4	3.49E-4	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93247	-3.08;-3.1;-3.08;-3.19	4.24	-0.165	0.13355	.	0.504521	0.15980	N	0.235340	T	0.81800	0.4899	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23540	0.036;0.087;0.009	B;B;B	0.16722	0.006;0.016;0.001	T	0.68326	-0.5438	9	.	.	.	.	4.063	0.09847	0.3165:0.0:0.5113:0.1722	rs28932180	803;969;1072	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	803;1072;803;969	ENSP00000346111:R803Q;ENSP00000395929:R1072Q;ENSP00000343209:R803Q;ENSP00000354310:R969Q	.	R	+	2	0	NSD1	176571221	0.820000	0.29190	0.070000	0.20053	0.002000	0.02628	0.462000	0.21956	0.072000	0.16694	-0.311000	0.09066	CGA		0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		48	67	0	0	0	1	0	48	67				
C6orf211	79624	broad.mit.edu	37	6	151785753	151785753	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151785753G>T	ENST00000367294.3	+	4	817	c.558G>T	c.(556-558)caG>caT	p.Q186H	C6orf211_ENST00000545879.1_Splice_Site_p.Q67H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	186										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AACTTCTGCAGGTAAATGTGA	0.279																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.e4+1		chromosome 6 open reading frame 211							52.0	52.0	52.0					6																	151785753		2202	4298	6500	SO:0001630	splice_region_variant	79624						protein binding	g.chr6:151785753G>T	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.558+1G>T	6.37:g.151785753G>T						C6orf211_ENST00000545879.1_Splice_Site_p.Q67_splice	p.Q186_splice	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	4	817	+			186					Q96FC6|Q9UFY5	Splice_Site	SNP	ENST00000367294.3	37	c.558_splice	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722664	0.89298	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.06849	3.25;3.25	5.49	5.49	0.81192	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.17577	0.0422	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.01068	-1.1462	10	0.34782	T	0.22	.	19.3616	0.94442	0.0:0.0:1.0:0.0	.	186	Q9H993	CF211_HUMAN	H	186;67	ENSP00000356263:Q186H;ENSP00000444121:Q67H	ENSP00000356263:Q186H	Q	+	3	2	C6orf211	151827446	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.010000	0.93611	2.568000	0.86640	0.650000	0.86243	CAG		0.279	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	Missense_Mutation	4	26	1	0	0.00024832	1	0.0002712	4	26				
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	362	LRRCT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1084-1086)cGc>cAc		leucine rich repeat and Ig domain containing 2							39.0	38.0	38.0					9																	27949585		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949585C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1085G>A	9.37:g.27949585C>T	ENSP00000369328:p.Arg362His					LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1534	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	362			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1085G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052619	0.75960	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80033	-1.33;-1.33	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84553	0.0645	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	362	Q7L985	LIGO2_HUMAN	H	362	ENSP00000369328:R362H;ENSP00000310126:R362H	.	R	-	2	0	LINGO2	27939585	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		8	24	0	0	0	1	0	8	24				
NFKBIZ	64332	broad.mit.edu	37	3	101571607	101571607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101571607T>C	ENST00000326172.5	+	3	570	c.455T>C	c.(454-456)tTc>tCc	p.F152S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F152S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F52S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	152					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGAACAGTTCAGAGGTAAG	0.289																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(454-456)tTc>tCc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							76.0	80.0	79.0					3																	101571607		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101571607T>C	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.455T>C	3.37:g.101571607T>C	ENSP00000325663:p.Phe152Ser					NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F152S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F52S	p.F152S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			3	570	+			152					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.455T>C	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.376852	0.42105	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;T;T	0.61274	0.28;0.24;0.12;0.29	5.72	4.55	0.56014	.	0.573629	0.14070	U	0.343446	T	0.43831	0.1265	N	0.24115	0.695	0.24671	N	0.99341	B;P	0.39391	0.277;0.671	B;B	0.37943	0.175;0.261	T	0.33137	-0.9880	10	0.72032	D	0.01	-1.3182	9.6309	0.39778	0.4234:0.0:0.0:0.5766	.	152;152	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	S	52;52;152;152;52	ENSP00000419800:F52S;ENSP00000377618:F52S;ENSP00000325593:F152S;ENSP00000325663:F152S	ENSP00000325593:F152S	F	+	2	0	NFKBIZ	103054297	0.991000	0.36638	0.918000	0.36340	0.966000	0.64601	1.503000	0.35715	0.972000	0.38314	0.459000	0.35465	TTC		0.289	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		4	71	0	0	0	1	0	4	71				
WFIKKN2	124857	broad.mit.edu	37	17	48918032	48918032	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48918032C>T	ENST00000311378.4	+	2	1911	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.S368S	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	461	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCTGTCGCAGCGACTTTGTCA	0.632																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1381-1383)agC>agT		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							40.0	41.0	41.0					17																	48918032		2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48918032C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1383C>T	17.37:g.48918032C>T						WFIKKN2_ENST00000426127.1_Silent_p.S368S|RP11-506D12.5_ENST00000572491.2_RNA	p.S461S	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1911	+			461			NTR.		Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.1383C>T	CCDS11575.1																																																																																				0.632	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		5	39	0	0	0	1	0	5	39				
TRANK1	9881	broad.mit.edu	37	3	36896952	36896952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36896952G>A	ENST00000429976.2	-	12	4376	c.4129C>T	c.(4129-4131)Ctg>Ttg	p.L1377L	TRANK1_ENST00000428977.2_Silent_p.L827L|TRANK1_ENST00000301807.6_Silent_p.L827L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1377							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTCGACAGCCTCCGGGAT	0.502																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(2479-2481)Ctg>Ttg		tetratricopeptide repeat and ankyrin repeat containing 1							123.0	125.0	124.0					3																	36896952		2051	4190	6241	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896952G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4129C>T	3.37:g.36896952G>A						TRANK1_ENST00000429976.2_Silent_p.L1377L|TRANK1_ENST00000428977.2_Silent_p.L827L	p.L827L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	4376	-			1377					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.2479C>T	CCDS46789.2																																																																																				0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		51	90	0	0	0	1	0	51	90				
MMP11	4320	broad.mit.edu	37	22	24122551	24122551	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24122551T>G	ENST00000215743.3	+	3	396	c.344T>G	c.(343-345)cTt>cGt	p.L115R	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	115					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TCCAGGATCCTTCGGTTCCCA	0.627																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(343-345)cTt>cGt		matrix metallopeptidase 11 (stromelysin 3)							72.0	66.0	68.0					22																	24122551		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24122551T>G		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.344T>G	22.37:g.24122551T>G	ENSP00000215743:p.Leu115Arg					MMP11_ENST00000477567.1_3'UTR	p.L115R	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			3	396	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	115					Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.344T>G	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201327	0.38905	.	.	ENSG00000099953	ENST00000215743	T	0.15952	2.38	5.08	5.08	0.68730	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.259916	0.39759	N	0.001278	T	0.21145	0.0509	L	0.38838	1.175	0.40602	D	0.98159	D	0.65815	0.995	P	0.52481	0.7	T	0.03157	-1.1066	10	0.15066	T	0.55	.	14.5417	0.67999	0.0:0.0:0.0:1.0	.	115	P24347	MMP11_HUMAN	R	115	ENSP00000215743:L115R	ENSP00000215743:L115R	L	+	2	0	MMP11	22452551	0.991000	0.36638	1.000000	0.80357	0.912000	0.54170	2.905000	0.48727	2.285000	0.76669	0.529000	0.55759	CTT		0.627	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		4	35	0	0	0	1	0	4	35				
SALL3	27164	broad.mit.edu	37	18	76754804	76754804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754804C>T	ENST00000537592.2	+	2	2813	c.2813C>T	c.(2812-2814)cCg>cTg	p.P938L	SALL3_ENST00000575389.2_Missense_Mutation_p.P938L|SALL3_ENST00000536229.3_Missense_Mutation_p.P805L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	938					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACCGAGAGGCCGGACAGCCCA	0.741																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2413-2415)cCg>cTg		spalt-like transcription factor 3							5.0	7.0	7.0					18																	76754804		1952	3910	5862	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754804C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2813C>T	18.37:g.76754804C>T	ENSP00000441823:p.Pro938Leu					SALL3_ENST00000537592.2_Missense_Mutation_p.P938L|SALL3_ENST00000575389.2_Missense_Mutation_p.P938L	p.P805L			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	3123	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	972					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2414C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239794	0.22711	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09723	2.95	5.49	3.69	0.42338	.	0.107359	0.40554	N	0.001072	T	0.10981	0.0268	L	0.54323	1.7	0.50467	D	0.999872	B;B	0.21452	0.056;0.01	B;B	0.12837	0.008;0.002	T	0.08289	-1.0729	10	0.30854	T	0.27	-18.7725	9.8911	0.41290	0.1395:0.7878:0.0:0.0727	.	670;938	F5GXY4;Q9BXA9	.;SALL3_HUMAN	L	938;938;670	ENSP00000441823:P938L	ENSP00000299466:P938L	P	+	2	0	SALL3	74855792	1.000000	0.71417	0.216000	0.23742	0.128000	0.20619	4.903000	0.63272	0.668000	0.31126	0.561000	0.74099	CCG		0.741	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	4	0	0	0	1	0	3	4				
INO80D	54891	broad.mit.edu	37	2	206872026	206872026	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206872026C>A	ENST00000403263.1	-	10	2304	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	634					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAATCAAAATCTTGTAAGTCA	0.353																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(1900-1902)Gat>Tat		INO80 complex subunit D							68.0	66.0	67.0					2																	206872026		1857	4101	5958	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206872026C>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1900G>T	2.37:g.206872026C>A	ENSP00000384198:p.Asp634Tyr						p.D634Y	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			10	2304	-			634					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1900G>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.587016	0.86851	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.36157	1.27	5.47	5.47	0.80525	.	0.050806	0.85682	D	0.000000	T	0.56790	0.2009	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.57642	-0.7776	10	0.72032	D	0.01	.	19.3371	0.94324	0.0:1.0:0.0:0.0	.	634	Q53TQ3-2	.	Y	634	ENSP00000384198:D634Y	ENSP00000233270:D634Y	D	-	1	0	INO80D	206580271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.567000	0.86603	0.561000	0.74099	GAT		0.353	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		18	32	1	0	5.3912e-06	1	6.15692e-06	18	32				
PDCD11	22984	broad.mit.edu	37	10	105176259	105176259	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105176259T>C	ENST00000369797.3	+	13	1624	c.1530T>C	c.(1528-1530)tgT>tgC	p.C510C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	510	S1 motif 5. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTTGCTTTGTGACCCTGAAG	0.488											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1528-1530)tgT>tgC		programmed cell death 11							147.0	142.0	143.0					10																	105176259		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105176259T>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1530T>C	10.37:g.105176259T>C			OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387		p.C510C	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	13	1624	+		Colorectal(252;0.0747)|Breast(234;0.128)	510			S1 motif 5.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.1530T>C	CCDS31276.1																																																																																				0.488	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			14	98	0	0	0	1	0	14	98				
MAP1LC3A	84557	broad.mit.edu	37	20	33147655	33147655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147655G>A	ENST00000360668.3	+	4	1080	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.G107S|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.G111S			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	107					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGACGAGGACGGCTTCCTCTA	0.637																																						ENST00000360668.3																			0				cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						c.(319-321)Ggc>Agc		microtubule-associated protein 1 light chain 3 alpha							46.0	49.0	48.0					20																	33147655		2203	4300	6503	SO:0001583	missense	84557				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	g.chr20:33147655G>A		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.319G>A	20.37:g.33147655G>A	ENSP00000353886:p.Gly107Ser					MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.G107S|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.G111S	p.G107S			Q9H492	MLP3A_HUMAN			4	1080	+			107					E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	c.319G>A	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737067	0.96865	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.46063	0.88;0.88;0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.995	T	0.79438	-0.1803	10	0.72032	D	0.01	-9.7843	19.1229	0.93371	0.0:0.0:1.0:0.0	.	107;111	Q9H492;Q9H492-2	MLP3A_HUMAN;.	S	111;107;107	ENSP00000363970:G111S;ENSP00000353886:G107S;ENSP00000380821:G107S	ENSP00000353886:G107S	G	+	1	0	MAP1LC3A	32611316	1.000000	0.71417	0.994000	0.49952	0.901000	0.52897	9.774000	0.98992	2.619000	0.88677	0.313000	0.20887	GGC		0.637	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		24	38	0	0	0	1	0	24	38				
ZNF12	7559	broad.mit.edu	37	7	6732277	6732277	+	Missense_Mutation	SNP	G	G	T	rs373685517		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732277G>T	ENST00000405858.1	-	5	837	c.296C>A	c.(295-297)cCt>cAt	p.P99H	ZNF12_ENST00000342651.5_Missense_Mutation_p.P99H|ZNF12_ENST00000404360.1_Missense_Mutation_p.P63H|AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	99					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTGCCTTGAAGGTTTATTTTC	0.363																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(295-297)cCt>cAt		zinc finger protein 12							142.0	142.0	142.0					7																	6732277		1829	4093	5922	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6732277G>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.296C>A	7.37:g.6732277G>T	ENSP00000385939:p.Pro99His					ZNF12_ENST00000342651.5_Missense_Mutation_p.P99H|ZNF12_ENST00000404360.1_Missense_Mutation_p.P63H|AC073343.13_ENST00000366167.2_RNA	p.P99H	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	837	-		Ovarian(82;0.0776)	99					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.296C>A	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182047	0.06340	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.05319	3.46;3.57;3.48	4.45	-5.8	0.02347	.	1.388660	0.04825	N	0.437703	T	0.01558	0.0050	N	0.01140	-0.99	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42258	-0.9462	10	0.13853	T	0.58	.	0.1085	0.00054	0.2971:0.2352:0.2212:0.2464	.	99;99	P17014;P17014-5	ZNF12_HUMAN;.	H	63;99;99;157;63	ENSP00000384405:P63H;ENSP00000385939:P99H;ENSP00000344745:P99H	ENSP00000331039:P63H	P	-	2	0	ZNF12	6698802	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.204000	0.09425	-1.136000	0.02892	-1.107000	0.02091	CCT		0.363	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		119	104	1	0	6.87118e-46	1	9.28252e-46	119	104				
RASEF	158158	broad.mit.edu	37	9	85640766	85640766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85640766G>A	ENST00000376447.3	-	2	762	c.502C>T	c.(502-504)Cat>Tat	p.H168Y		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	168					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTATAACATGTTCATATGGC	0.358																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(502-504)Cat>Tat		RAS and EF-hand domain containing							195.0	178.0	184.0					9																	85640766		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85640766G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.502C>T	9.37:g.85640766G>A	ENSP00000365630:p.His168Tyr						p.H168Y	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			2	762	-			168					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.502C>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646519	0.67358	.	.	ENSG00000165105	ENST00000376447	T	0.60797	0.16	5.99	5.99	0.97316	.	0.183408	0.51477	D	0.000081	T	0.55970	0.1954	L	0.48642	1.525	0.80722	D	1	P	0.45827	0.867	B	0.40038	0.317	T	0.59685	-0.7408	10	0.59425	D	0.04	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	168	Q8IZ41	RASEF_HUMAN	Y	168	ENSP00000365630:H168Y	ENSP00000365630:H168Y	H	-	1	0	RASEF	84830586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.630000	0.54273	2.840000	0.97914	0.655000	0.94253	CAT		0.358	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		12	166	0	0	0	1	0	12	166				
RBM39	9584	broad.mit.edu	37	20	34319989	34319989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34319989C>T	ENST00000253363.6	-	4	193	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.R57Q|RBM39_ENST00000361162.6_Missense_Mutation_p.R57Q			Q14498	RBM39_HUMAN	RNA binding motif protein 39	57	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GTCTCTACTTCGCTTCCGTTC	0.443																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(169-171)cGa>cAa		RNA binding motif protein 39							197.0	170.0	179.0					20																	34319989		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34319989C>T	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.170G>A	20.37:g.34319989C>T	ENSP00000253363:p.Arg57Gln					RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R57Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R57Q	p.R57Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			4	554	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		57			Arg/Ser-rich (RS domain).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.170G>A	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.6|24.6	4.549831|4.549831	0.86127|0.86127	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.58060	.|0.97;0.97;0.36;2.4;2.4;0.63	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.236945	.|0.40640	.|N	.|0.001049	T|T	0.45975|0.45975	0.1369|0.1369	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.33857	.|0.288;0.288;0.411;0.288;0.429	.|B;B;B;B;B	.|0.23018	.|0.019;0.019;0.043;0.019;0.028	T|T	0.34229|0.34229	-0.9837|-0.9837	5|10	.|0.23302	.|T	.|0.38	.|.	20.2836|20.2836	0.98532|0.98532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|57;57;57;57;33	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	K|Q	45|57	.|ENSP00000253363:R57Q;ENSP00000354437:R57Q;ENSP00000436747:R57Q;ENSP00000363150:R57Q;ENSP00000406801:R57Q;ENSP00000393493:R57Q	.|ENSP00000253363:R57Q	E|R	-|-	1|2	0|0	RBM39|RBM39	33783403|33783403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.087000|5.087000	0.64480|0.64480	2.789000|2.789000	0.95967|0.95967	0.651000|0.651000	0.88453|0.88453	GAA|CGA		0.443	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		47	80	0	0	0	1	0	47	80				
PKN2	5586	broad.mit.edu	37	1	89294209	89294209	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89294209A>G	ENST00000370521.3	+	19	2824	c.2465A>G	c.(2464-2466)gAa>gGa	p.E822G	PKN2_ENST00000544045.1_Missense_Mutation_p.E496G|PKN2_ENST00000370513.5_Missense_Mutation_p.E774G|PKN2_ENST00000370505.3_Missense_Mutation_p.E665G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGCACTCCTGAATTTCTTGCC	0.378																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(2464-2466)gAa>gGa		protein kinase N2							105.0	95.0	98.0					1																	89294209		1835	4092	5927	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89294209A>G	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2465A>G	1.37:g.89294209A>G	ENSP00000359552:p.Glu822Gly					PKN2_ENST00000370513.5_Missense_Mutation_p.E774G|PKN2_ENST00000544045.1_Missense_Mutation_p.E496G|PKN2_ENST00000370505.3_Missense_Mutation_p.E665G	p.E822G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	19	2824	+		Lung NSC(277;0.123)	822			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2465A>G	CCDS714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.67|18.67	3.674759|3.674759	0.67928|0.67928	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215|ENST00000449189	T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.335680|.	0.20747|.	U|.	0.086427|.	T|.	0.51500|.	0.1678|.	L|L	0.46670|0.46670	1.46|1.46	0.80722|0.80722	D|D	1|1	D;D;P|.	0.58620|.	0.983;0.964;0.492|.	D;P;B|.	0.65684|.	0.937;0.789;0.268|.	T|.	0.50617|.	-0.8807|.	10|.	0.87932|.	D|.	0|.	.|.	15.153|15.153	0.72717|0.72717	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	806;774;822|.	B4DTP5;E7ESL7;Q16513|.	.;.;PKN2_HUMAN|.	G|W	822;665;774;496;76|29	ENSP00000359552:E822G;ENSP00000359536:E665G;ENSP00000359544:E774G;ENSP00000439643:E496G|.	ENSP00000359536:E665G|.	E|X	+|+	2|3	0|0	PKN2|PKN2	89066797|89066797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.979000|6.979000	0.76154|0.76154	2.182000|2.182000	0.69389|0.69389	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.378	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		25	61	0	0	0	1	0	25	61				
IL1F10	84639	broad.mit.edu	37	2	113832239	113832239	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113832239G>A	ENST00000393197.2	+	3	539				IL1F10_ENST00000341010.2_Intron|IL1F10_ENST00000337569.3_Missense_Mutation_p.A20T	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)							extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						GCCTTTACCTGCCAAGAGCCT	0.572																																						ENST00000337569.3																			0				endometrium(1)|lung(6)|ovary(1)	8						c.(58-60)Gcc>Acc		interleukin 1 family, member 10 (theta)																																				SO:0001627	intron_variant	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832239G>A	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.119-61G>A	2.37:g.113832239G>A						IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron	p.A20T			Q8WWZ1	IL1FA_HUMAN			3	133	+			20					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	c.58G>A	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	G	5.231	0.228061	0.09916	.	.	ENSG00000136697	ENST00000337569	T	0.28666	1.6	4.56	-6.86	0.01676	.	.	.	.	.	T	0.17109	0.0411	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29027	-1.0025	8	0.66056	D	0.02	.	3.4903	0.07636	0.5473:0.1157:0.2199:0.1172	.	20	Q8WWZ1-2	.	T	20	ENSP00000338418:A20T	ENSP00000338418:A20T	A	+	1	0	IL1F10	113548710	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.943000	0.03917	-1.773000	0.01290	-0.136000	0.14681	GCC		0.572	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		14	127	0	0	0	1	0	14	127				
HIPK1	204851	broad.mit.edu	37	1	114483046	114483046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114483046C>T	ENST00000369558.1	+	2	273	c.41C>T	c.(40-42)tCg>tTg	p.S14L	HIPK1_ENST00000369555.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369554.2_Missense_Mutation_p.S14L|HIPK1_ENST00000426820.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369559.4_Missense_Mutation_p.S14L|HIPK1_ENST00000369561.4_Missense_Mutation_p.S14L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	14					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATCAGTGTCGTCGAGTGCC	0.443																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(40-42)tCg>tTg		homeodomain interacting protein kinase 1							160.0	173.0	169.0					1																	114483046		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483046C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.41C>T	1.37:g.114483046C>T	ENSP00000358571:p.Ser14Leu					HIPK1_ENST00000426820.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369554.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369559.4_Missense_Mutation_p.S14L|HIPK1_ENST00000369555.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369561.4_Missense_Mutation_p.S14L	p.S14L			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	273	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	14					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.41C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642512	0.47153	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.52295	0.7;0.67;0.7;0.72;0.72;0.7;0.72;0.77;0.75	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000020	T	0.36771	0.0979	L	0.43923	1.385	0.80722	D	1	P;D	0.56746	0.921;0.977	B;P	0.45195	0.184;0.473	T	0.41610	-0.9499	10	0.72032	D	0.01	.	18.1468	0.89659	0.0:1.0:0.0:0.0	.	14;14	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	L	85;14;14;14;14;14;14;14;14	ENSP00000407442:S85L;ENSP00000358572:S14L;ENSP00000409673:S14L;ENSP00000358567:S14L;ENSP00000358568:S14L;ENSP00000358571:S14L;ENSP00000358574:S14L;ENSP00000422322:S14L;ENSP00000426695:S14L	ENSP00000358567:S14L	S	+	2	0	HIPK1	114284569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.868000	0.39509	2.271000	0.75665	0.650000	0.86243	TCG		0.443	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		105	141	0	0	0	1	0	105	141				
TTN	7273	broad.mit.edu	37	2	179398130	179398130	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179398130G>T	ENST00000591111.1	-	308	98513	c.98289C>A	c.(98287-98289)tcC>tcA	p.S32763S	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Silent_p.S25339S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Silent_p.S25464S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Silent_p.S31836S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Silent_p.S34404S|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Silent_p.S25531S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32763	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGCCCGAGGGACAGTGGCT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103210-103212)tcC>tcA		titin							69.0	69.0	69.0					2																	179398130		1980	4157	6137	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398130G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98289C>A	2.37:g.179398130G>T						TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.S25339S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Silent_p.S31836S|TTN_ENST00000359218.5_Silent_p.S25464S|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.S25531S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.S32763S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA	p.S34404S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	103436	-			32763					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.103212C>A																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	62	1	0	0.00909568	1	0.00947522	4	62				
TYR	7299	broad.mit.edu	37	11	88911756	88911756	+	Missense_Mutation	SNP	G	G	T	rs377209424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911756G>T	ENST00000263321.5	+	1	1137	c.635G>T	c.(634-636)aGa>aTa	p.R212I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	212					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCTTGGCATAGACTCTTCTTG	0.453																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM033051	TYR	M		c.(634-636)aGa>aTa		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						146.0	141.0	143.0					11																	88911756		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911756G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.635G>T	11.37:g.88911756G>T	ENSP00000263321:p.Arg212Ile					TYR_ENST00000526139.1_3'UTR	p.R212I	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1137	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	212					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.635G>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070986	0.93950	.	.	ENSG00000077498	ENST00000263321	D	0.99930	-8.15	6.07	6.07	0.98685	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96434	0.9321	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	212	P14679	TYRO_HUMAN	I	212	ENSP00000263321:R212I	.	R	+	2	0	TYR	88551404	1.000000	0.71417	0.968000	0.41197	0.976000	0.68499	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	AGA		0.453	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		47	78	1	0	2.01872e-29	1	2.70161e-29	47	78				
PDHA2	5161	broad.mit.edu	37	4	96761711	96761711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761711C>T	ENST00000295266.4	+	1	473	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	137					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.T137M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCAGAGCTGACGGGAAGAAGA	0.527																																						ENST00000295266.4																			1	Substitution - Missense(1)	p.T137M(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(409-411)aCg>aTg		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						99.0	90.0	93.0					4																	96761711		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761711C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.410C>T	4.37:g.96761711C>T	ENSP00000295266:p.Thr137Met						p.T137M	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	473	+		Hepatocellular(203;0.114)	137					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.410C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612113	0.28712	.	.	ENSG00000163114	ENST00000295266	D	0.95885	-3.84	4.77	3.93	0.45458	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92057	0.5653	10	0.22109	T	0.4	-24.5207	8.9334	0.35684	0.0:0.899:0.0:0.101	.	137	P29803	ODPAT_HUMAN	M	137	ENSP00000295266:T137M	ENSP00000295266:T137M	T	+	2	0	PDHA2	96980734	1.000000	0.71417	0.671000	0.29857	0.270000	0.26580	5.328000	0.65887	1.380000	0.46344	0.467000	0.42956	ACG		0.527	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			23	47	0	0	0	1	0	23	47				
LRRC17	10234	broad.mit.edu	37	7	102574889	102574889	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102574889A>T	ENST00000339431.4	+	2	824	c.529A>T	c.(529-531)Atg>Ttg	p.M177L	FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.M177L|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	177	LRRCT 1.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCTTATTTCAATGTTGCAGAT	0.428																																						ENST00000249377.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(529-531)Atg>Ttg		leucine rich repeat containing 17							120.0	121.0	121.0					7																	102574889		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574889A>T	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.529A>T	7.37:g.102574889A>T	ENSP00000344242:p.Met177Leu					FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.M177L	p.M177L	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN			2	810	+			177			LRRCT 1.		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.529A>T	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947972	0.34377	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;D	0.89050	3.71;-2.46	5.41	4.26	0.50523	Cysteine-rich flanking region, C-terminal (1);	0.079233	0.53938	N	0.000054	T	0.80623	0.4658	L	0.29908	0.895	0.29485	N	0.856032	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.72507	-0.4272	10	0.49607	T	0.09	-28.1235	6.6238	0.22818	0.7911:0.0:0.0726:0.1363	.	177;177	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	L	177	ENSP00000344242:M177L;ENSP00000249377:M177L	ENSP00000249377:M177L	M	+	1	0	LRRC17	102362125	0.998000	0.40836	0.653000	0.29593	0.997000	0.91878	3.822000	0.55708	1.003000	0.39130	0.455000	0.32223	ATG		0.428	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		10	117	0	0	0	1	0	10	117				
SSX5	6758	broad.mit.edu	37	X	48054794	48054794	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48054794T>C	ENST00000376923.1	-	1	0	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SSX5_ENST00000311798.1_Start_Codon_SNP_p.M1V|SSX5_ENST00000347757.1_Start_Codon_SNP_p.M1V			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTCCGTTCATGGCACCGGGA	0.532																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(1-3)Atg>Gtg		synovial sarcoma, X breakpoint 5							189.0	155.0	166.0					X																	48054794		2203	4299	6502	SO:0001582	initiator_codon_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054794T>C	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.1A>G	X.37:g.48054794T>C	ENSP00000366122:p.Met1Val					SSX5_ENST00000376923.1_Start_Codon_SNP_p.M1V|SSX5_ENST00000347757.1_Start_Codon_SNP_p.M1V	p.M1V	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			2	53	-			1					Q5JQ59|Q5JQ60|Q96AW3	Translation_Start_Site	SNP	ENST00000376923.1	37	c.1A>G	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	4.838	0.155874	0.09236	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.14022	2.54;2.75;2.75	1.51	-1.11	0.09840	.	0.396492	0.21778	N	0.069252	T	0.10723	0.0262	.	.	.	0.80722	D	1	B;B	0.24963	0.115;0.044	B;B	0.31245	0.126;0.068	T	0.11397	-1.0589	9	0.87932	D	0	.	4.247	0.10675	0.0:0.5027:0.0:0.4973	.	1;1	O60225;O60225-2	SSX5_HUMAN;.	V	1	ENSP00000312415:M1V;ENSP00000366122:M1V;ENSP00000290558:M1V	ENSP00000312415:M1V	M	-	1	0	SSX5	47939738	0.679000	0.27596	0.005000	0.12908	0.008000	0.06430	0.231000	0.17872	-0.401000	0.07644	0.143000	0.16000	ATG		0.532	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015	Missense_Mutation	15	122	0	0	0	1	0	15	122				
CHGB	1114	broad.mit.edu	37	20	5897001	5897001	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5897001A>T	ENST00000378961.4	+	2	283	c.79A>T	c.(79-81)Aac>Tac	p.N27Y	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	27						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGATAACAGGAACCACAATGA	0.398																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(79-81)Aac>Tac		chromogranin B (secretogranin 1)							137.0	114.0	121.0					20																	5897001		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5897001A>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.79A>T	20.37:g.5897001A>T	ENSP00000368244:p.Asn27Tyr					CHGB_ENST00000488832.1_3'UTR	p.N27Y	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			2	283	+			27					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.79A>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.280749	0.59758	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01998	4.51;4.51	5.58	1.89	0.25635	.	0.261210	0.32444	N	0.006081	T	0.04363	0.0120	L	0.57536	1.79	0.23903	N	0.996514	P	0.44946	0.846	P	0.50659	0.647	T	0.28522	-1.0041	10	0.87932	D	0	-11.4411	3.1719	0.06555	0.4198:0.2317:0.3485:0.0	.	27	P05060	SCG1_HUMAN	Y	27;7	ENSP00000368244:N27Y;ENSP00000416643:N7Y	ENSP00000368244:N27Y	N	+	1	0	CHGB	5845001	0.997000	0.39634	0.999000	0.59377	0.963000	0.63663	1.174000	0.31932	0.390000	0.25115	0.482000	0.46254	AAC		0.398	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		10	19	0	0	0	1	0	10	19				
C6	729	broad.mit.edu	37	5	41149403	41149403	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41149403T>C	ENST00000263413.3	-	17	2827	c.2563A>G	c.(2563-2565)Aac>Gac	p.N855D	C6_ENST00000337836.5_Missense_Mutation_p.N855D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	855	C5b-binding domain.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTGTGCTGTTGGATGAAAGT	0.413																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2563-2565)Aac>Gac		complement component 6							214.0	203.0	207.0					5																	41149403		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149403T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2563A>G	5.37:g.41149403T>C	ENSP00000263413:p.Asn855Asp					C6_ENST00000337836.5_Missense_Mutation_p.N855D	p.N855D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2827	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	855			C5b-binding domain.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2563A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	9.989	1.230390	0.22542	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60171	0.21;0.21	5.85	4.69	0.59074	.	0.295220	0.41500	N	0.000866	T	0.37544	0.1007	N	0.08118	0	0.09310	N	0.999999	B	0.14012	0.009	B	0.11329	0.006	T	0.30534	-0.9975	10	0.51188	T	0.08	-10.7779	12.0703	0.53611	0.0:0.0676:0.0:0.9324	.	855	P13671	CO6_HUMAN	D	855	ENSP00000338861:N855D;ENSP00000263413:N855D	ENSP00000263413:N855D	N	-	1	0	C6	41185160	0.004000	0.15560	0.022000	0.16811	0.361000	0.29550	1.454000	0.35178	1.028000	0.39785	0.533000	0.62120	AAC		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			80	130	0	0	0	1	0	80	130				
SP100	6672	broad.mit.edu	37	2	231379976	231379976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231379976C>A	ENST00000264052.5	+	25	2616	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	754					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACCTATATCCCTCCTAAAGGG	0.423																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2260-2262)cCt>cAt		SP100 nuclear antigen							52.0	56.0	55.0					2																	231379976		2199	4296	6495	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231379976C>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2261C>A	2.37:g.231379976C>A	ENSP00000264052:p.Pro754His					SP100_ENST00000340126.4_Intron	p.P754H	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2616	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	754					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2261C>A	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039407	0.35989	.	.	ENSG00000067066	ENST00000264052	T	0.17370	2.28	0.158	0.158	0.14942	High mobility group, superfamily (2);High mobility group, HMG1/HMG2 (1);	.	.	.	.	T	0.47710	0.1460	H	0.98238	4.18	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.48068	-0.9067	9	0.36615	T	0.2	.	6.0348	0.19702	0.0:0.9995:0.0:5.0E-4	.	754	P23497	SP100_HUMAN	H	754	ENSP00000264052:P754H	ENSP00000264052:P754H	P	+	2	0	SP100	231088220	1.000000	0.71417	0.061000	0.19648	0.061000	0.15899	5.264000	0.65513	0.202000	0.20498	0.205000	0.17691	CCT		0.423	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		16	35	1	0	2.31682e-05	1	2.60394e-05	16	35				
TLR10	81793	broad.mit.edu	37	4	38776140	38776140	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776140T>C	ENST00000308973.4	-	4	1677	c.1072A>G	c.(1072-1074)Aat>Gat	p.N358D	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.N358D|TLR10_ENST00000508334.1_Missense_Mutation_p.N358D|TLR10_ENST00000361424.2_Missense_Mutation_p.N358D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	358					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTTAAGATATTATTGGCAAAA	0.333																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1072-1074)Aat>Gat		toll-like receptor 10							76.0	81.0	80.0					4																	38776140		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776140T>C	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1072A>G	4.37:g.38776140T>C	ENSP00000308925:p.Asn358Asp					TLR10_ENST00000361424.2_Missense_Mutation_p.N358D|TLR10_ENST00000506111.1_Missense_Mutation_p.N358D|TLR10_ENST00000508334.1_Missense_Mutation_p.N358D	p.N358D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1677	-			358					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1072A>G	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377034	0.61735	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.99	4.99	0.66335	.	0.000000	0.51477	D	0.000088	T	0.61714	0.2369	M	0.81682	2.555	0.32011	N	0.602099	D	0.71674	0.998	D	0.72982	0.979	T	0.73357	-0.4008	10	0.87932	D	0	.	14.6793	0.69004	0.0:0.0:0.0:1.0	.	358	Q9BXR5	TLR10_HUMAN	D	358	ENSP00000308925:N358D;ENSP00000421483:N358D;ENSP00000354459:N358D;ENSP00000424923:N358D	ENSP00000308925:N358D	N	-	1	0	TLR10	38452535	0.999000	0.42202	0.999000	0.59377	0.963000	0.63663	4.121000	0.57904	1.871000	0.54225	0.477000	0.44152	AAT		0.333	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			10	72	0	0	0	1	0	10	72				
TSSK2	23617	broad.mit.edu	37	22	19119390	19119390	+	Missense_Mutation	SNP	C	C	T	rs144966098	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119390C>T	ENST00000399635.2	+	1	1070	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTTCTCCAAGCGCTGCCTGCG	0.597																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(478-480)Cgc>Tgc		testis-specific serine kinase 2		C	,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	131.0	115.0	120.0		,478	5.5	1.0	22	dbSNP_134	120	0,8600		0,0,4300	no	utr-3,missense	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,possibly-damaging	,160/359	19119390	3,13003	2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119390C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.478C>T	22.37:g.19119390C>T	ENSP00000382544:p.Arg160Cys					DGCR14_ENST00000252137.6_3'UTR	p.R160C	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1070	+	Colorectal(54;0.0993)		160			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.478C>T	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801107	0.50315	6.81E-4	0.0	ENSG00000206203	ENST00000399635	T	0.65549	-0.16	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000068	T	0.73434	0.3586	L	0.45698	1.435	0.45272	D	0.998276	D	0.89917	1.0	D	0.69479	0.964	T	0.71185	-0.4667	10	0.38643	T	0.18	.	18.1358	0.89618	0.0:1.0:0.0:0.0	.	160	Q96PF2	TSSK2_HUMAN	C	160	ENSP00000382544:R160C	ENSP00000382544:R160C	R	+	1	0	TSSK2	17499390	0.007000	0.16637	1.000000	0.80357	0.856000	0.48823	0.461000	0.21940	2.575000	0.86900	0.655000	0.94253	CGC		0.597	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			35	55	0	0	0	1	0	35	55				
GTF3C5	9328	broad.mit.edu	37	9	135926284	135926284	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926284G>T	ENST00000372097.5	+	4	1010	c.687G>T	c.(685-687)caG>caT	p.Q229H	GTF3C5_ENST00000372108.5_Missense_Mutation_p.Q229H|GTF3C5_ENST00000372099.6_Missense_Mutation_p.Q220H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.Q104H|GTF3C5_ENST00000342018.8_Splice_Site	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	229					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGCCCAAGCAGCCACTGGAGG	0.617																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(685-687)caG>caT		general transcription factor IIIC, polypeptide 5, 63kDa							40.0	37.0	38.0					9																	135926284		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135926284G>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.687G>T	9.37:g.135926284G>T	ENSP00000361169:p.Gln229His					GTF3C5_ENST00000342018.8_Splice_Site|GTF3C5_ENST00000372099.6_Missense_Mutation_p.Q220H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.Q229H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.Q104H	p.Q229H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	4	1010	+			229					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.687G>T	CCDS6958.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	10.38|10.38|10.38	1.334836|1.334836|1.334836	0.24253|0.24253|0.24253	.|.|.	.|.|.	ENSG00000148308|ENSG00000148308|ENSG00000148308	ENST00000342018|ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000439697|ENST00000434175	.|T;T;T|.	.|0.47177|.	.|0.85;0.85;0.85|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|.|.	.|0.360391|.	.|0.32357|.	.|N|.	.|0.006217|.	.|T|T	.|0.55561|0.55561	.|0.1928|0.1928	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.34406|0.34406|0.34406	D|D|D	0.695799|0.695799|0.695799	.|D;B;P|.	.|0.61697|.	.|0.99;0.047;0.862|.	.|P;B;P|.	.|0.58266|.	.|0.836;0.02;0.571|.	.|T|T	.|0.64993|0.64993	.|-0.6276|-0.6276	.|10|5	.|0.48119|.	.|T|.	.|0.1|.	.|2.013|2.013	11.1979|11.1979|11.1979	0.48724|0.48724|0.48724	0.0942:0.0:0.9058:0.0|0.0942:0.0:0.9058:0.0|0.0942:0.0:0.9058:0.0	.|.|.	.|104;229;229|.	.|B7Z1V3;Q9Y5Q8-3;Q9Y5Q8|.	.|.;.;TF3C5_HUMAN|.	.|H|I	-1|229;182;220;104;79;229;104|1	.|ENSP00000361169:Q229H;ENSP00000361171:Q220H;ENSP00000361180:Q229H|.	.|ENSP00000361161:Q79H|.	.|Q|S	+|+|+	.|3|2	.|2|0	GTF3C5|GTF3C5|GTF3C5	134916105|134916105|134916105	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.938000|0.938000|0.938000	0.37757|0.37757|0.37757	0.283000|0.283000|0.283000	0.27025|0.27025|0.27025	3.557000|3.557000|3.557000	0.53741|0.53741|0.53741	2.421000|2.421000|2.421000	0.82119|0.82119|0.82119	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	.|CAG|AGC		0.617	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		13	16	1	0	1.5739e-10	1	1.9432e-10	13	16				
CALCB	797	broad.mit.edu	37	11	15098968	15098968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15098968C>T	ENST00000533448.1	+	4	472	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	CALCB_ENST00000523376.1_Missense_Mutation_p.R132C|CALCB_ENST00000324229.6_Missense_Mutation_p.R121C			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	121					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CTTTGGCAGGCGCCGCAGGGA	0.542																																						ENST00000523376.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(394-396)Cgc>Tgc		calcitonin-related polypeptide beta							46.0	43.0	44.0					11																	15098968		2200	4294	6494	SO:0001583	missense	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15098968C>T		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.361C>T	11.37:g.15098968C>T	ENSP00000433490:p.Arg121Cys					CALCB_ENST00000533448.1_Missense_Mutation_p.R121C|CALCB_ENST00000324229.6_Missense_Mutation_p.R121C	p.R132C			P10092	CALCB_HUMAN			9	1656	+			121					A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	c.394C>T	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344433	0.82022	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.38560	1.13;1.13;1.13	5.08	5.08	0.68730	Calcitonin peptide-like (1);	0.462457	0.18047	N	0.153404	T	0.68714	0.3031	M	0.87547	2.89	0.48452	D	0.999659	D	0.89917	1.0	D	0.91635	0.999	T	0.73477	-0.3970	10	0.87932	D	0	-12.1865	13.7616	0.62971	0.1537:0.8463:0.0:0.0	.	121	P10092	CALCB_HUMAN	C	132;121;121	ENSP00000428882:R132C;ENSP00000346017:R121C;ENSP00000433490:R121C	ENSP00000346017:R121C	R	+	1	0	CALCB	15055544	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.599000	0.46231	2.501000	0.84356	0.462000	0.41574	CGC		0.542	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		11	18	0	0	0	1	0	11	18				
L1CAM	3897	broad.mit.edu	37	X	153138122	153138122	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153138122G>T	ENST00000370060.1	-	4	311	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	L1CAM_ENST00000361699.4_Missense_Mutation_p.S41Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000361981.3_Missense_Mutation_p.S36Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.S41Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.S36Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	41	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCGTGGAGACTGTTCCGT	0.602																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(121-123)tCt>tAt		L1 cell adhesion molecule							112.0	81.0	92.0					X																	153138122		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153138122G>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.122C>A	X.37:g.153138122G>T	ENSP00000359077:p.Ser41Tyr					L1CAM_ENST00000361981.3_Missense_Mutation_p.S36Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.S41Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.S36Y|L1CAM_ENST00000361699.4_Missense_Mutation_p.S41Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.S43Y	p.S41Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			4	311	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		41			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.122C>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844677	0.91197	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	4.69	4.69	0.59074	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	T	0.39279	0.1072	M	0.77103	2.36	0.48236	D	0.999613	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.91635	0.996;0.879;0.999	T	0.34900	-0.9810	10	0.72032	D	0.01	.	15.5362	0.76004	0.0:0.0:1.0:0.0	.	36;41;41	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Y	41;43;41;43;36;36;41;41;36;36;41	ENSP00000359077:S41Y;ENSP00000438430:S43Y;ENSP00000359074:S41Y;ENSP00000439645:S43Y;ENSP00000354712:S36Y;ENSP00000359072:S36Y;ENSP00000355380:S41Y;ENSP00000402407:S41Y;ENSP00000384902:S36Y;ENSP00000392524:S36Y;ENSP00000396079:S41Y	ENSP00000355380:S41Y	S	-	2	0	L1CAM	152791316	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.574000	0.90763	2.176000	0.68965	0.529000	0.55759	TCT		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		20	43	1	0	6.33239e-15	1	8.10486e-15	20	43				
HBA2	3040	broad.mit.edu	37	16	223532	223532	+	Missense_Mutation	SNP	C	C	T	rs36075744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:223532C>T	ENST00000251595.6	+	3	428	c.362C>T	c.(361-363)gCg>gTg	p.A121V	HBA2_ENST00000397806.1_Missense_Mutation_p.A89V	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	121			A -> E (in J-Meerut/J-Birmingham). {ECO:0000269|PubMed:7713747}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	TTCACCCCTGCGGTGCACGCC	0.662											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(107;1340 2104 14383 27419)	ENST00000251595.6																			0						GRCh37	CM940912	HBA2	M	rs36075744	c.(361-363)gCg>gTg		hemoglobin, alpha 2	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						29.0	36.0	34.0					16																	223532		2149	4277	6426	SO:0001583	missense	3040				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:223532C>T	BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.362C>T	16.37:g.223532C>T	ENSP00000251595:p.Ala121Val		OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA2_ENST00000397806.1_Missense_Mutation_p.A89V	p.A121V	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN			3	428	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	121		A -> E (in J-Meerut/J-Birmingham).			P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Missense_Mutation	SNP	ENST00000251595.6	37	c.362C>T	CCDS10398.1	.	.	.	.	.	.	.	.	.	.	c	14.58	2.577582	0.45902	.	.	ENSG00000188536	ENST00000251595;ENST00000534957;ENST00000397806	D;D	0.94184	-3.24;-3.37	4.24	1.86	0.25419	Globin-like (1);Globin, structural domain (1);	0.315472	0.32343	N	0.006239	D	0.87688	0.6240	L	0.37850	1.14	0.36982	D	0.89435	B	0.27068	0.167	B	0.14578	0.011	D	0.86034	0.1515	10	0.72032	D	0.01	-11.072	11.0225	0.47726	0.4834:0.5165:0.0:0.0	.	121	P69905	HBA_HUMAN	V	121;89;89	ENSP00000251595:A121V;ENSP00000380908:A89V	ENSP00000251595:A121V	A	+	2	0	HBA2	163532	0.000000	0.05858	0.008000	0.14137	0.710000	0.40934	0.099000	0.15210	0.736000	0.32559	0.553000	0.69018	GCG		0.662	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133194.1	NM_000517		4	22	0	0	0	1	0	4	22				
AKAP12	9590	broad.mit.edu	37	6	151674767	151674767	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151674767G>A	ENST00000253332.1	+	3	5430	c.5241G>A	c.(5239-5241)caG>caA	p.Q1747Q	AKAP12_ENST00000402676.2_Silent_p.Q1747Q|AKAP12_ENST00000354675.6_Silent_p.Q1649Q|AKAP12_ENST00000359755.5_Silent_p.Q1642Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1747					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAGAATTGCAGGAAGGAAAAG	0.453																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(5239-5241)caG>caA		A kinase (PRKA) anchor protein 12							98.0	92.0	94.0					6																	151674767		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151674767G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.5241G>A	6.37:g.151674767G>A						AKAP12_ENST00000359755.5_Silent_p.Q1642Q|AKAP12_ENST00000253332.1_Silent_p.Q1747Q|AKAP12_ENST00000354675.6_Silent_p.Q1649Q	p.Q1747Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	5481	+		Ovarian(120;0.125)	1747					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.5241G>A	CCDS5229.1																																																																																				0.453	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	32	0	0	0	1	0	3	32				
CRELD1	78987	broad.mit.edu	37	3	9982636	9982636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9982636G>T	ENST00000383811.3	+	5	1162	c.563G>T	c.(562-564)gGg>gTg	p.G188V	CRELD1_ENST00000452070.1_Missense_Mutation_p.G188V|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188V|CRELD1_ENST00000397170.3_Missense_Mutation_p.G188V	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	188	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCCGGCTACGGGGGTGAGGCC	0.632																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(562-564)gGg>gTg		cysteine-rich with EGF-like domains 1							57.0	60.0	59.0					3																	9982636		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982636G>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.563G>T	3.37:g.9982636G>T	ENSP00000373322:p.Gly188Val					CRELD1_ENST00000397170.3_Missense_Mutation_p.G188V|CRELD1_ENST00000452070.1_Missense_Mutation_p.G188V|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188V	p.G188V	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			5	1162	+			188			EGF-like 1.		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.563G>T	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248912	0.39797	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.62232	0.17;0.17;0.17;0.04	5.33	3.5	0.40072	EGF-like, laminin (1);Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.197438	0.41823	D	0.000811	T	0.60689	0.2288	L	0.28274	0.84	0.58432	D	0.999997	P;D	0.59767	0.933;0.986	B;P	0.61722	0.348;0.893	T	0.55679	-0.8103	9	.	.	.	.	8.675	0.34174	0.0849:0.1537:0.7614:0.0	.	188;188	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	V	188	ENSP00000380355:G188V;ENSP00000373322:G188V;ENSP00000393643:G188V;ENSP00000321856:G188V	.	G	+	2	0	CRELD1	9957636	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	5.533000	0.67160	0.597000	0.29811	0.561000	0.74099	GGG		0.632	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		8	51	1	0	0.000157383	1	0.00017284	8	51				
SPRED2	200734	broad.mit.edu	37	2	65540885	65540885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540885C>T	ENST00000356388.4	-	6	1196	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Missense_Mutation_p.C333Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	336	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGGCGGATGCAAGTTCTCAC	0.627																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(1006-1008)tGc>tAc		sprouty-related, EVH1 domain containing 2							88.0	84.0	85.0					2																	65540885		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540885C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1007G>A	2.37:g.65540885C>T	ENSP00000348753:p.Cys336Tyr					SPRED2_ENST00000443619.2_Missense_Mutation_p.C333Y	p.C336Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1196	-			336			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.1007G>A	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242861	0.79912	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.945;1.0	T	0.80125	-0.1513	10	0.87932	D	0	-13.2848	16.2158	0.82217	0.134:0.866:0.0:0.0	.	333;336	E9PEP0;Q7Z698	.;SPRE2_HUMAN	Y	336;333;351;218	ENSP00000348753:C336Y;ENSP00000393697:C333Y;ENSP00000390595:C351Y;ENSP00000407627:C218Y	ENSP00000348753:C336Y	C	-	2	0	SPRED2	65394389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.418000	0.47098	0.655000	0.94253	TGC		0.627	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			23	45	0	0	0	1	0	23	45				
DNAH17	8632	broad.mit.edu	37	17	76487568	76487568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487568G>T	ENST00000585328.1	-	43	6735	c.6611C>A	c.(6610-6612)cCc>cAc	p.P2204H	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.P2195H|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2195	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACATGGGGTCTATGTC	0.607																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6583-6585)cCc>cAc		dynein, axonemal, heavy chain 17							133.0	141.0	139.0					17																	76487568		2078	4232	6310	SO:0001583	missense	8632							g.chr17:76487568G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6611C>A	17.37:g.76487568G>T	ENSP00000465516:p.Pro2204His					RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2204H|DNAH17_ENST00000586052.1_5'UTR	p.P2195H					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		43	6708	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6584C>A		.	.	.	.	.	.	.	.	.	.	g	22.2	4.256237	0.80246	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.86627	-2.15	4.96	3.99	0.46301	.	.	.	.	.	D	0.94843	0.8334	H	0.95645	3.7	0.47994	D	0.999561	.	.	.	.	.	.	D	0.95740	0.8782	7	0.87932	D	0	.	13.4277	0.61035	0.077:0.0:0.923:0.0	.	.	.	.	H	2204;2195	ENSP00000374490:P2195H	ENSP00000300671:P2204H	P	-	2	0	DNAH17	73999163	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.528000	0.98046	1.092000	0.41356	0.543000	0.68304	CCC		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	13	1	0	0.000157383	1	0.00017284	8	13				
PRPS2	5634	broad.mit.edu	37	X	12828159	12828159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828159G>A	ENST00000380668.5	+	4	552	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	PRPS2_ENST00000489404.1_Missense_Mutation_p.V142M|PRPS2_ENST00000398491.2_Missense_Mutation_p.V145M	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	142					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGATATTCCTGTGGATAATTT	0.428																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(424-426)Gtg>Atg		phosphoribosyl pyrophosphate synthetase 2							91.0	79.0	83.0					X																	12828159		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12828159G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.424G>A	X.37:g.12828159G>A	ENSP00000370043:p.Val142Met					PRPS2_ENST00000489404.1_Missense_Mutation_p.V142M|PRPS2_ENST00000398491.2_Missense_Mutation_p.V145M	p.V142M	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			4	552	+			142					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.424G>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828668	0.71258	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220	D;D;D;T	0.96300	-3.05;-3.05;-3.97;-0.8	4.91	4.91	0.64330	Phosphoribosyl pyrophosphate synthetase, conserved site (1);	0.123265	0.53938	D	0.000048	D	0.98629	0.9541	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.941;0.973	D	0.99834	1.1056	10	0.87932	D	0	-13.9562	17.6643	0.88200	0.0:0.0:1.0:0.0	.	142;145	P11908;P11908-2	PRPS2_HUMAN;.	M	142;145;142;55;32	ENSP00000370043:V142M;ENSP00000381504:V145M;ENSP00000419380:V142M;ENSP00000418911:V55M	ENSP00000370043:V142M	V	+	1	0	PRPS2	12738080	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.273000	0.95719	2.188000	0.69820	0.596000	0.82720	GTG		0.428	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		13	28	0	0	0	1	0	13	28				
DOPEY2	9980	broad.mit.edu	37	21	37618055	37618055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618055C>T	ENST00000399151.3	+	19	3862	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1259					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGAATTCATCGAGGCTGTGT	0.592																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3775-3777)atC>atT		dopey family member 2							68.0	66.0	67.0					21																	37618055		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618055C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3777C>T	21.37:g.37618055C>T							p.I1259I	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3862	+			1259					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.3777C>T	CCDS13643.1																																																																																				0.592	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		18	25	0	0	0	1	0	18	25				
PDE8A	5151	broad.mit.edu	37	15	85681118	85681118	+	Missense_Mutation	SNP	G	G	A	rs201958312		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85681118G>A	ENST00000310298.4	+	23	2726	c.2474G>A	c.(2473-2475)cGa>cAa	p.R825Q	PDE8A_ENST00000394553.1_Missense_Mutation_p.R825Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.R779Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.R753Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	825					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CGGAACCTCCGACCACCTCCT	0.498																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2473-2475)cGa>cAa		phosphodiesterase 8A							84.0	71.0	75.0					15																	85681118		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85681118G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2474G>A	15.37:g.85681118G>A	ENSP00000311453:p.Arg825Gln					PDE8A_ENST00000557957.1_Missense_Mutation_p.R753Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.R779Q|PDE8A_ENST00000394553.1_Missense_Mutation_p.R825Q	p.R825Q			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		23	2726	+	Colorectal(223;0.227)		825					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2474G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802971	0.31869	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.73575	-0.76;-0.76;-0.59	5.36	3.49	0.39957	.	0.278041	0.34156	N	0.004205	T	0.65719	0.2718	M	0.68317	2.08	0.45837	D	0.998701	P;P	0.39060	0.657;0.612	B;B	0.29524	0.103;0.044	T	0.64757	-0.6332	10	0.45353	T	0.12	.	9.6249	0.39743	0.1679:0.0:0.8321:0.0	.	779;825	O60658-2;O60658	.;PDE8A_HUMAN	Q	825;825;779	ENSP00000311453:R825Q;ENSP00000378056:R825Q;ENSP00000340679:R779Q	ENSP00000311453:R825Q	R	+	2	0	PDE8A	83482122	1.000000	0.71417	0.345000	0.25642	0.033000	0.12548	9.185000	0.94900	0.835000	0.34877	0.561000	0.74099	CGA		0.498	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		9	11	0	0	0	1	0	9	11				
MKL2	57496	broad.mit.edu	37	16	14341010	14341010	+	Silent	SNP	C	C	T	rs370660473	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14341010C>T	ENST00000341243.5	+	10	1860	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	MKL2_ENST00000574045.1_Silent_p.H631H|MKL2_ENST00000318282.5_Silent_p.H631H|MKL2_ENST00000571589.1_Silent_p.H631H			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	620					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCAGAAGCACGGCAGCCTTG	0.602													C|||	3	0.000599042	0.0	0.0	5008	,	,		18789	0.002		0.0	False		,,,				2504	0.001					ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1891-1893)caC>caT		MKL/myocardin-like 2							41.0	42.0	42.0					16																	14341010		2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14341010C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1860C>T	16.37:g.14341010C>T						MKL2_ENST00000574045.1_Silent_p.H631H|MKL2_ENST00000318282.5_Silent_p.H631H|MKL2_ENST00000341243.5_Silent_p.H620H	p.H631H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	2065	+			620					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.1893C>T																																																																																					0.602	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		15	28	0	0	0	1	0	15	28				
ZBTB17	7709	broad.mit.edu	37	1	16272784	16272784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16272784C>T	ENST00000375743.4	-	5	632	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ZBTB17_ENST00000375733.2_Missense_Mutation_p.D134N|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000537142.1_Missense_Mutation_p.D52N|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D71N	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTCTTGTCCCCTCCTGGA	0.622																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(400-402)Gac>Aac		zinc finger and BTB domain containing 17							123.0	110.0	115.0					1																	16272784		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16272784C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.400G>A	1.37:g.16272784C>T	ENSP00000364895:p.Asp134Asn					ZBTB17_ENST00000537142.1_Missense_Mutation_p.D52N|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D71N|ZBTB17_ENST00000375743.4_Missense_Mutation_p.D134N	p.D134N			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	5	638	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	134					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.400G>A	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093644	0.76870	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000537142;ENST00000448462	T;T;T;T	0.12879	2.66;2.64;2.9;2.95	3.68	3.68	0.42216	.	0.345909	0.26352	N	0.024869	T	0.17280	0.0415	N	0.24115	0.695	0.31575	N	0.655886	D;D;P;B;B;B;B	0.63880	0.976;0.993;0.939;0.018;0.018;0.18;0.01	P;P;P;B;B;B;B	0.56865	0.631;0.808;0.735;0.023;0.023;0.038;0.01	T	0.02132	-1.1208	10	0.72032	D	0.01	.	11.1985	0.48728	0.0:1.0:0.0:0.0	.	134;58;71;134;52;134;134	B4DGV6;B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;.;ZBT17_HUMAN	N	134;134;52;71	ENSP00000364895:D134N;ENSP00000364885:D134N;ENSP00000438529:D52N;ENSP00000391002:D71N	ENSP00000364885:D134N	D	-	1	0	ZBTB17	16145371	0.004000	0.15560	0.981000	0.43875	0.921000	0.55340	0.601000	0.24119	2.354000	0.79902	0.462000	0.41574	GAC		0.622	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		39	71	0	0	0	1	0	39	71				
CTH	1491	broad.mit.edu	37	1	70883695	70883695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70883695G>A	ENST00000370938.3	+	3	470	c.326G>A	c.(325-327)tGt>tAt	p.C109Y	CTH_ENST00000346806.2_Missense_Mutation_p.C109Y|CTH_ENST00000464926.1_Intron|CTH_ENST00000411986.2_Intron	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAAATTATTTGTATGGATGAT	0.333																																						ENST00000370938.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(325-327)tGt>tAt		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						152.0	144.0	146.0					1																	70883695		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70883695G>A	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.326G>A	1.37:g.70883695G>A	ENSP00000359976:p.Cys109Tyr					CTH_ENST00000411986.2_Intron|CTH_ENST00000346806.2_Missense_Mutation_p.C109Y|CTH_ENST00000464926.1_Intron	p.C109Y	NM_001902.5	NP_001893.2	P32929	CGL_HUMAN			3	470	+			109					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.326G>A	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387301	0.82902	.	.	ENSG00000116761	ENST00000370938;ENST00000346806	D;D	0.82167	-1.58;-1.58	5.43	5.43	0.79202	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.71581	2.175	0.80722	D	1	D;D	0.55385	0.971;0.971	P;D	0.63283	0.694;0.913	D	0.89556	0.3803	10	0.87932	D	0	-7.2793	18.0116	0.89225	0.0:0.0:1.0:0.0	.	109;109	P32929-2;P32929	.;CGL_HUMAN	Y	109	ENSP00000359976:C109Y;ENSP00000311554:C109Y	ENSP00000311554:C109Y	C	+	2	0	CTH	70656283	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	5.074000	0.64401	2.533000	0.85409	0.655000	0.94253	TGT		0.333	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		42	46	0	0	0	1	0	42	46				
OR5D13	390142	broad.mit.edu	37	11	55541189	55541189	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541189A>G	ENST00000361760.1	+	1	276	c.276A>G	c.(274-276)agA>agG	p.R92R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGAATACAGAACCATCTCTT	0.398																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(274-276)agA>agG		olfactory receptor, family 5, subfamily D, member 13							191.0	182.0	185.0					11																	55541189		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541189A>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.276A>G	11.37:g.55541189A>G							p.R92R	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	276	+		all_epithelial(135;0.196)	92					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.276A>G	CCDS31507.1																																																																																				0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		21	139	0	0	0	1	0	21	139				
SMEK1	55671	broad.mit.edu	37	14	91937205	91937205	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91937205A>G	ENST00000554943.1	-	10	1751	c.1636T>C	c.(1636-1638)Tcg>Ccg	p.S546P	SMEK1_ENST00000555462.1_Missense_Mutation_p.S307P|SMEK1_ENST00000337238.4_Missense_Mutation_p.S533P|SMEK1_ENST00000428424.2_Missense_Mutation_p.S307P|SMEK1_ENST00000554684.1_Missense_Mutation_p.S533P			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	546					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCATGCTTCGAGGCCATAAGA	0.333																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1597-1599)Tcg>Ccg		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							121.0	123.0	122.0					14																	91937205		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91937205A>G	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1636T>C	14.37:g.91937205A>G	ENSP00000450883:p.Ser546Pro					SMEK1_ENST00000337238.4_Missense_Mutation_p.S533P|SMEK1_ENST00000555462.1_Missense_Mutation_p.S307P|SMEK1_ENST00000428424.2_Missense_Mutation_p.S307P|SMEK1_ENST00000554943.1_Missense_Mutation_p.S546P	p.S533P			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	10	2093	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	546					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1597T>C		.	.	.	.	.	.	.	.	.	.	A	28.0	4.880346	0.91740	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.45276	1.5;1.5;0.9;1.5;0.9;1.5	5.8	5.8	0.92144	Armadillo-type fold (1);	0.116471	0.64402	D	0.000010	T	0.70002	0.3174	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.981;0.999;1.0	D;D;D	0.80764	0.959;0.979;0.994	T	0.74405	-0.3676	10	0.46703	T	0.11	-7.7771	16.1475	0.81580	1.0:0.0:0.0:0.0	.	307;546;533	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	P	533;533;307;546;307;533	ENSP00000450864:S533P;ENSP00000337125:S533P;ENSP00000392704:S307P;ENSP00000450883:S546P;ENSP00000450891:S307P;ENSP00000452596:S533P	ENSP00000337125:S533P	S	-	1	0	SMEK1	91006958	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	9.339000	0.96797	2.213000	0.71641	0.528000	0.53228	TCG		0.333	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		29	48	0	0	0	1	0	29	48				
CDCP1	64866	broad.mit.edu	37	3	45132744	45132744	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45132744G>A	ENST00000296129.1	-	7	2048	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	638						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TAGAGATGTTGACCCAGAAGC	0.577																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1912-1914)gtC>gtT		CUB domain containing protein 1							109.0	103.0	105.0					3																	45132744		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132744G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1914C>T	3.37:g.45132744G>A							p.V638V	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	7	2048	-			638					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.1914C>T	CCDS2727.1																																																																																				0.577	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		24	45	0	0	0	1	0	24	45				
MARK4	57787	broad.mit.edu	37	19	45781872	45781872	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45781872T>C	ENST00000262891.4	+	10	1336	c.1005T>C	c.(1003-1005)atT>atC	p.I335I	MARK4_ENST00000300843.4_Splice_Site_p.I335I	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	335	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAGAGAATTGGTGAGGGTC	0.532																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.e10+1		MAP/microtubule affinity-regulating kinase 4							140.0	120.0	127.0					19																	45781872		2203	4300	6503	SO:0001630	splice_region_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45781872T>C	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1006+1T>C	19.37:g.45781872T>C						MARK4_ENST00000262891.4_Splice_Site_p.I335_splice	p.I335_splice	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	10	1302	+		all_neural(266;0.224)|Ovarian(192;0.231)	335			UBA.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Splice_Site	SNP	ENST00000262891.4	37	c.1006_splice	CCDS56097.1																																																																																				0.532	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	Silent	7	81	0	0	0	1	0	7	81				
APOD	347	broad.mit.edu	37	3	195300836	195300836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195300836C>T	ENST00000343267.3	-	3	491	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	44					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TACCATCTTCCGAGATACTGC	0.498																																						ENST00000343267.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(130-132)Gga>Aga		apolipoprotein D							140.0	118.0	125.0					3																	195300836		2203	4300	6503	SO:0001583	missense	347				lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding	g.chr3:195300836C>T		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.130G>A	3.37:g.195300836C>T	ENSP00000345179:p.Gly44Arg						p.G44R	NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	491	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	44					B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	37	c.130G>A	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829789	0.91036	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.80566	-1.39;-1.39;-1.39	5.91	5.91	0.95273	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95403	0.8491	10	0.87932	D	0	-13.4836	15.7984	0.78433	0.0:1.0:0.0:0.0	.	44;44	B4DGC3;P05090	.;APOD_HUMAN	R	44;72;44	ENSP00000345179:G44R;ENSP00000415235:G72R;ENSP00000393076:G44R	ENSP00000345179:G44R	G	-	1	0	APOD	196782125	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	6.915000	0.75770	2.802000	0.96397	0.655000	0.94253	GGA		0.498	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		23	27	0	0	0	1	0	23	27				
MSTN	2660	broad.mit.edu	37	2	190926970	190926970	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190926970A>C	ENST00000260950.4	-	1	485	c.353T>G	c.(352-354)aTc>aGc	p.I118S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	118					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CATGGTAATGATTGTTTCCGT	0.428																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(352-354)aTc>aGc		myostatin							137.0	125.0	129.0					2																	190926970		2203	4299	6502	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190926970A>C	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.353T>G	2.37:g.190926970A>C	ENSP00000260950:p.Ile118Ser					C2orf88_ENST00000478197.1_Intron	p.I118S	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	485	-			118					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.353T>G	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.010861	0.93346	.	.	ENSG00000138379	ENST00000260950	T	0.72051	-0.62	5.55	5.55	0.83447	Transforming growth factor-beta, N-terminal (1);	0.139951	0.64402	D	0.000005	T	0.81997	0.4941	M	0.67700	2.07	0.80722	D	1	P	0.36944	0.574	P	0.55455	0.776	T	0.83184	-0.0087	10	0.87932	D	0	-1.8243	15.8615	0.79026	1.0:0.0:0.0:0.0	.	118	O14793	GDF8_HUMAN	S	118	ENSP00000260950:I118S	ENSP00000260950:I118S	I	-	2	0	MSTN	190635215	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.139000	0.94554	2.333000	0.79357	0.533000	0.62120	ATC		0.428	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		12	77	0	0	0	1	0	12	77				
TMTC2	160335	broad.mit.edu	37	12	83526157	83526157	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83526157T>C	ENST00000321196.3	+	12	3207	c.2500T>C	c.(2500-2502)Tct>Cct	p.S834P	TMTC2_ENST00000549919.1_Missense_Mutation_p.S828P	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	834					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTTAAAGACTTCTAAGACCTG	0.498																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(2482-2484)Tct>Cct		transmembrane and tetratricopeptide repeat containing 2							74.0	61.0	65.0					12																	83526157		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83526157T>C	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2500T>C	12.37:g.83526157T>C	ENSP00000322300:p.Ser834Pro					TMTC2_ENST00000321196.3_Missense_Mutation_p.S834P	p.S828P			Q8N394	TMTC2_HUMAN			13	4287	+			834					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.2482T>C	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870339	0.51588	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.52526	0.76;0.66	5.33	5.33	0.75918	.	0.122745	0.56097	D	0.000034	T	0.37265	0.0997	N	0.22421	0.69	0.46521	D	0.999081	P	0.37466	0.596	B	0.37888	0.26	T	0.34875	-0.9811	10	0.56958	D	0.05	-12.1969	14.4782	0.67562	0.0:0.0:0.0:1.0	.	834	Q8N394	TMTC2_HUMAN	P	834;828;589	ENSP00000322300:S834P;ENSP00000447609:S828P	ENSP00000322300:S834P	S	+	1	0	TMTC2	82050288	0.996000	0.38824	0.990000	0.47175	0.922000	0.55478	3.620000	0.54203	2.032000	0.59987	0.533000	0.62120	TCT		0.498	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		3	36	0	0	0	1	0	3	36				
ZNF7	7553	broad.mit.edu	37	8	146066770	146066770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146066770C>T	ENST00000528372.1	+	5	518	c.278C>T	c.(277-279)gCc>gTc	p.A93V	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_5'UTR|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.A104V|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325241.6_Missense_Mutation_p.A93V			P17097	ZNF7_HUMAN	zinc finger protein 7	93					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATGAGCAGGCCTGTGAGGAC	0.453																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(277-279)gCc>gTc		zinc finger protein 7							144.0	143.0	144.0					8																	146066770		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146066770C>T	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.278C>T	8.37:g.146066770C>T	ENSP00000432724:p.Ala93Val					ZNF7_ENST00000325241.6_Missense_Mutation_p.A93V|ZNF7_ENST00000544249.1_5'UTR|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.A104V|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000529819.1_Intron	p.A93V			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	518	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	93					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.278C>T	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045176	0.36085	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000533314;ENST00000527218;ENST00000528372	T;T;T;T;T;T	0.05319	7.24;3.47;3.46;4.82;5.75;3.47	5.01	3.24	0.37175	.	1.071280	0.07369	N	0.885372	T	0.03959	0.0111	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.45175	-0.9279	10	0.27082	T	0.32	-1.1371	7.7367	0.28819	0.0:0.8125:0.0:0.1875	.	104;93	B4DT08;P17097	.;ZNF7_HUMAN	V	93;93;104;126;92;93	ENSP00000432641:A93V;ENSP00000320627:A93V;ENSP00000393260:A104V;ENSP00000433630:A126V;ENSP00000433656:A92V;ENSP00000432724:A93V	ENSP00000320627:A93V	A	+	2	0	ZNF7	146037574	0.000000	0.05858	0.003000	0.11579	0.024000	0.10985	0.329000	0.19698	0.734000	0.32515	-0.993000	0.02533	GCC		0.453	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		7	172	0	0	0	1	0	7	172				
GRM5	2915	broad.mit.edu	37	11	88323889	88323889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88323889G>A	ENST00000305447.4	-	6	1719	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	GRM5_ENST00000305432.5_Nonsense_Mutation_p.R524*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.R524*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.R524*|GRM5_ENST00000418177.2_Nonsense_Mutation_p.R524*	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	524					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTCCCTTTCGGATCACCTAA	0.388																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1570-1572)Cga>Tga		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						108.0	93.0	98.0					11																	88323889		2201	4299	6500	SO:0001587	stop_gained	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88323889G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1570C>T	11.37:g.88323889G>A	ENSP00000306138:p.Arg524*					GRM5_ENST00000305447.4_Nonsense_Mutation_p.R524*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.R524*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.R524*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.R524*	p.R524*			P41594	GRM5_HUMAN			7	1937	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	524					Q6J164	Nonsense_Mutation	SNP	ENST00000305447.4	37	c.1570C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	39	7.779272	0.98486	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	.	.	.	5.06	4.11	0.48088	.	0.067895	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8547	0.70326	0.0:0.0:0.8559:0.1441	.	.	.	.	X	524	.	.	R	-	1	2	GRM5	87963537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.235000	0.65348	2.363000	0.80096	0.655000	0.94253	CGA		0.388	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		45	72	0	0	0	1	0	45	72				
PIGG	54872	broad.mit.edu	37	4	509771	509771	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:509771G>A	ENST00000453061.2	+	6	1017	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	PIGG_ENST00000509768.1_Missense_Mutation_p.R215Q|PIGG_ENST00000504346.1_Missense_Mutation_p.R215Q|PIGG_ENST00000383028.4_Missense_Mutation_p.R171Q|PIGG_ENST00000536264.1_Missense_Mutation_p.R182Q|PIGG_ENST00000310340.5_Missense_Mutation_p.R304Q|PIGG_ENST00000296306.7_Missense_Mutation_p.R215Q|PIGG_ENST00000503111.1_Missense_Mutation_p.R215Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	304					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGTGATATCCGACATCCAAAG	0.433																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(910-912)cGa>cAa		phosphatidylinositol glycan anchor biosynthesis, class G							98.0	101.0	100.0					4																	509771		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:509771G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.911G>A	4.37:g.509771G>A	ENSP00000415203:p.Arg304Gln					PIGG_ENST00000536264.1_Missense_Mutation_p.R182Q|PIGG_ENST00000504346.1_Missense_Mutation_p.R215Q|PIGG_ENST00000310340.5_Missense_Mutation_p.R304Q|PIGG_ENST00000503111.1_Missense_Mutation_p.R215Q|PIGG_ENST00000296306.7_Missense_Mutation_p.R215Q|PIGG_ENST00000509768.1_Missense_Mutation_p.R215Q|PIGG_ENST00000383028.4_Missense_Mutation_p.R171Q	p.R304Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			6	1017	+			304					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.911G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	7.556	0.663786	0.14710	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000383028;ENST00000509768	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;3.32;3.33;3.01;1.02;3.03;1.59	5.45	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.169439	0.51477	D	0.000094	T	0.17916	0.0430	N	0.11131	0.1	0.09310	N	1	B;B;B;B;B;B	0.31752	0.013;0.338;0.05;0.018;0.11;0.04	B;B;B;B;B;B	0.20767	0.002;0.018;0.017;0.001;0.031;0.018	T	0.13308	-1.0514	10	0.12430	T	0.62	.	8.7841	0.34809	0.1376:0.0:0.8624:0.0	.	182;171;215;215;304;304	B4DKC7;Q5H8A4-3;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;.;PIGG_HUMAN;.	Q	215;182;304;304;215;215;171;215	ENSP00000296306:R215Q;ENSP00000439240:R182Q;ENSP00000311750:R304Q;ENSP00000415203:R304Q;ENSP00000424800:R215Q;ENSP00000426002:R215Q;ENSP00000372494:R171Q;ENSP00000421550:R215Q	ENSP00000296306:R215Q	R	+	2	0	PIGG	499771	0.492000	0.26027	0.025000	0.17156	0.258000	0.26162	3.117000	0.50407	2.551000	0.86045	0.655000	0.94253	CGA		0.433	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		4	73	0	0	0	1	0	4	73				
C1orf35	79169	broad.mit.edu	37	1	228288868	228288868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228288868C>T	ENST00000272139.4	-	8	990	c.756G>A	c.(754-756)ccG>ccA	p.P252P	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	252							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				ACCTGCGAGACGGGCTCCTCC	0.632																																						ENST00000272139.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(754-756)ccG>ccA		chromosome 1 open reading frame 35							100.0	94.0	96.0					1																	228288868		2203	4300	6503	SO:0001819	synonymous_variant	79169							g.chr1:228288868C>T	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.756G>A	1.37:g.228288868C>T						C1orf35_ENST00000472617.1_5'UTR	p.P252P	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN			8	990	-		Prostate(94;0.0488)	252					Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Silent	SNP	ENST00000272139.4	37	c.756G>A	CCDS1566.1																																																																																				0.632	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		14	43	0	0	0	1	0	14	43				
STAT4	6775	broad.mit.edu	37	2	191929597	191929597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191929597G>A	ENST00000392320.2	-	8	1032	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	STAT4_ENST00000358470.4_Missense_Mutation_p.R240W	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	240					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCTGCCGCCGCTTCCAGTCT	0.488																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(718-720)Cgg>Tgg		signal transducer and activator of transcription 4							131.0	141.0	138.0					2																	191929597		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191929597G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.718C>T	2.37:g.191929597G>A	ENSP00000376134:p.Arg240Trp					STAT4_ENST00000358470.4_Missense_Mutation_p.R240W	p.R240W	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		8	1032	-			240					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.718C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721121	0.68959	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.64438	-0.1;-0.1	5.2	-0.294	0.12831	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.059215	0.64402	D	0.000006	T	0.78566	0.4303	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.997	T	0.80959	-0.1149	10	0.87932	D	0	-10.887	15.2947	0.73894	0.0:0.0:0.4596:0.5404	.	149;240;240	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	W	240	ENSP00000351255:R240W;ENSP00000376134:R240W	ENSP00000351255:R240W	R	-	1	2	STAT4	191637842	0.994000	0.37717	0.829000	0.32907	0.898000	0.52572	0.823000	0.27366	-0.218000	0.10018	0.643000	0.83706	CGG		0.488	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		12	201	0	0	0	1	0	12	201				
SLC35G2	80723	broad.mit.edu	37	3	136574386	136574386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136574386C>T	ENST00000446465.2	+	2	1712	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	SLC35G2_ENST00000393079.3_Nonsense_Mutation_p.Q362*|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TATGGTCTTGCAGCTTCTCGT	0.398																																						ENST00000446465.2																			0											c.(1084-1086)Cag>Tag		solute carrier family 35, member G2							222.0	206.0	212.0					3																	136574386		2203	4300	6503	SO:0001587	stop_gained	80723					Golgi apparatus|integral to membrane		g.chr3:136574386C>T	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.1084C>T	3.37:g.136574386C>T	ENSP00000400839:p.Gln362*					SLC35G2_ENST00000393079.3_Nonsense_Mutation_p.Q362*|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	p.Q362*	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	1712	+			362			DUF6 2.			Nonsense_Mutation	SNP	ENST00000446465.2	37	c.1084C>T	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308291	0.95629	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	.	.	.	5.93	5.93	0.95920	.	0.060930	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	18.8972	0.92429	0.0:1.0:0.0:0.0	.	.	.	.	X	362	.	ENSP00000376794:Q362X	Q	+	1	0	TMEM22	138057076	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.433000	0.80362	2.818000	0.97014	0.591000	0.81541	CAG		0.398	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		82	145	0	0	0	1	0	82	145				
SNAP29	9342	broad.mit.edu	37	22	21237800	21237800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21237800G>A	ENST00000215730.7	+	4	690	c.562G>A	c.(562-564)Gct>Act	p.A188T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	188					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GAGTACTGATGCTTACCCAAA	0.498																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(562-564)Gct>Act		synaptosomal-associated protein, 29kDa							246.0	219.0	228.0					22																	21237800		2203	4300	6503	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21237800G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.562G>A	22.37:g.21237800G>A	ENSP00000215730:p.Ala188Thr						p.A188T	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		4	690	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	188						Missense_Mutation	SNP	ENST00000215730.7	37	c.562G>A	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	8.556	0.876731	0.17395	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	4.38	1.01	0.19927	SNAP-25 (1);	0.298782	0.35495	N	0.003175	T	0.26448	0.0646	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.22452	-1.0216	9	0.13853	T	0.58	-0.3745	7.7809	0.29064	0.4652:0.0:0.5348:0.0	.	188	O95721	SNP29_HUMAN	T	188;95	.	ENSP00000215730:A188T	A	+	1	0	SNAP29	19567800	0.000000	0.05858	0.620000	0.29132	0.600000	0.36913	0.133000	0.15912	0.096000	0.17463	0.591000	0.81541	GCT		0.498	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		53	102	0	0	0	1	0	53	102				
HPS5	11234	broad.mit.edu	37	11	18313021	18313021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313021G>T	ENST00000349215.3	-	16	2685	c.2408C>A	c.(2407-2409)tCt>tAt	p.S803Y	HPS5_ENST00000396253.3_Missense_Mutation_p.S689Y|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.S689Y	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	803					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCCCAAACAGAAGGGCTATT	0.348									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2065-2067)tCt>tAt		Hermansky-Pudlak syndrome 5							48.0	46.0	46.0					11																	18313021		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313021G>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2408C>A	11.37:g.18313021G>T	ENSP00000265967:p.Ser803Tyr					HPS5_ENST00000438420.2_Missense_Mutation_p.S689Y|HPS5_ENST00000349215.3_Missense_Mutation_p.S803Y|HPS5_ENST00000352460.3_5'UTR	p.S689Y	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2528	-			803					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2066C>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679831	0.29783	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.79940	-1.32;-1.32;-1.32	5.46	4.55	0.56014	.	0.732597	0.14469	N	0.317687	T	0.63200	0.2491	N	0.08118	0	0.09310	N	0.999996	B	0.34161	0.439	B	0.33620	0.167	T	0.56282	-0.8005	10	0.48119	T	0.1	.	9.1385	0.36888	0.0:0.4262:0.4877:0.0861	.	803	Q9UPZ3	HPS5_HUMAN	Y	689;689;803	ENSP00000379552:S689Y;ENSP00000399590:S689Y;ENSP00000265967:S803Y	ENSP00000265967:S803Y	S	-	2	0	HPS5	18269597	0.011000	0.17503	0.963000	0.40424	0.950000	0.60333	0.734000	0.26101	1.304000	0.44892	0.591000	0.81541	TCT		0.348	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		15	29	1	0	3.45872e-05	1	3.88335e-05	15	29				
NKX2-2	4821	broad.mit.edu	37	20	21494286	21494286	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21494286T>C	ENST00000377142.4	-	1	378	c.22A>G	c.(22-24)Acg>Gcg	p.T8A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	8					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAACCCCGTCTTTGTGTTG	0.587																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(22-24)Acg>Gcg		NK2 homeobox 2							65.0	65.0	65.0					20																	21494286		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21494286T>C	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.22A>G	20.37:g.21494286T>C	ENSP00000366347:p.Thr8Ala						p.T8A	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			1	378	-			8						Missense_Mutation	SNP	ENST00000377142.4	37	c.22A>G	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153307	0.57259	.	.	ENSG00000125820	ENST00000377142	D	0.92149	-2.98	4.75	4.75	0.60458	.	0.115012	0.64402	D	0.000017	D	0.88973	0.6583	L	0.50333	1.59	0.50467	D	0.999872	B	0.30824	0.296	B	0.26202	0.067	D	0.88514	0.3091	10	0.72032	D	0.01	.	13.9483	0.64099	0.0:0.0:0.0:1.0	.	8	O95096	NKX22_HUMAN	A	8	ENSP00000366347:T8A	ENSP00000366347:T8A	T	-	1	0	NKX2-2	21442286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.732000	0.68563	1.774000	0.52232	0.460000	0.39030	ACG		0.587	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			4	54	0	0	0	1	0	4	54				
CBLN3	643866	broad.mit.edu	37	14	24897069	24897069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897069G>A	ENST00000267406.6	-	3	1014	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	KHNYN_ENST00000553935.1_5'Flank|CBLN3_ENST00000555436.1_Missense_Mutation_p.R131C|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000556842.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	182	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGACGCAGGCGCAGAGACACT	0.567																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(544-546)Cgc>Tgc		cerebellin 3 precursor							119.0	128.0	125.0					14																	24897069		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897069G>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.544C>T	14.37:g.24897069G>A	ENSP00000267406:p.Arg182Cys					CBLN3_ENST00000555436.1_Missense_Mutation_p.R131C	p.R182C	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	3	1014	-			182			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Missense_Mutation	SNP	ENST00000267406.6	37	c.544C>T	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396641	0.83011	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.76968	-1.06;-1.06	5.62	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.51477	D	0.000099	D	0.86251	0.5888	M	0.76002	2.32	0.49798	D	0.999827	D	0.89917	1.0	D	0.75020	0.985	D	0.87327	0.2322	10	0.87932	D	0	-14.3694	11.5084	0.50481	0.0:0.0:0.6737:0.3263	.	182	Q6UW01	CBLN3_HUMAN	C	182;131	ENSP00000267406:R182C;ENSP00000450935:R131C	ENSP00000267406:R182C	R	-	1	0	CBLN3	23966909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.665000	0.74442	1.352000	0.45808	0.561000	0.74099	CGC		0.567	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		57	86	0	0	0	1	0	57	86				
ZCCHC18	644353	broad.mit.edu	37	X	103359095	103359095	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359095T>C	ENST00000537356.3	+	2	1707	c.293T>C	c.(292-294)aTg>aCg	p.M98T	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	98							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CGGGAGGTCATGCGTTTGCTT	0.517																																						ENST00000537356.2																			0											c.(292-294)aTg>aCg		zinc finger, CCHC domain containing 18							78.0	62.0	67.0					X																	103359095		692	1591	2283	SO:0001583	missense	644353						nucleic acid binding|zinc ion binding	g.chrX:103359095T>C	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.293T>C	X.37:g.103359095T>C	ENSP00000473824:p.Met98Thr					ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	p.M98T	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN			1	293	+			98						Missense_Mutation	SNP	ENST00000537356.3	37	c.293T>C																																																																																					0.517	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		26	59	0	0	0	1	0	26	59				
TANGO6	79613	broad.mit.edu	37	16	68896887	68896887	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68896887T>G	ENST00000261778.1	+	3	787	c.775T>G	c.(775-777)Ttg>Gtg	p.L259V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	259						integral component of membrane (GO:0016021)											CAGGGGGGCCTTGAGAGACAT	0.498																																						ENST00000261778.1																			0											c.(775-777)Ttg>Gtg		transport and golgi organization 6 homolog (Drosophila)							30.0	32.0	31.0					16																	68896887		1854	4097	5951	SO:0001583	missense	79613							g.chr16:68896887T>G		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.775T>G	16.37:g.68896887T>G	ENSP00000261778:p.Leu259Val						p.L259V	NM_024562.1	NP_078838.1					3	787	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.775T>G	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051854	0.75960	.	.	ENSG00000103047	ENST00000261778	D	0.82167	-1.58	5.73	3.36	0.38483	.	.	.	.	.	T	0.75027	0.3794	M	0.72118	2.19	0.39102	D	0.961301	P;P	0.39060	0.657;0.518	B;B	0.31946	0.138;0.138	T	0.73119	-0.4083	9	0.42905	T	0.14	-3.5031	3.0727	0.06236	0.1774:0.1932:0.0:0.6294	.	259;98	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	V	259	ENSP00000261778:L259V	ENSP00000261778:L259V	L	+	1	2	TMCO7	67454388	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.860000	0.27871	1.011000	0.39340	0.528000	0.53228	TTG		0.498	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		3	9	0	0	0	1	0	3	9				
PROX1	5629	broad.mit.edu	37	1	214171370	214171370	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171370G>T	ENST00000366958.4	+	2	2100	c.1492G>T	c.(1492-1494)Ggt>Tgt	p.G498C	PROX1_ENST00000261454.4_Missense_Mutation_p.G498C|PROX1_ENST00000435016.1_Missense_Mutation_p.G498C|PROX1_ENST00000498508.2_Missense_Mutation_p.G498C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	498					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGCCCATTAGGTGCTCCCTC	0.562																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1492-1494)Ggt>Tgt		prospero homeobox 1							78.0	87.0	84.0					1																	214171370		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171370G>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1492G>T	1.37:g.214171370G>T	ENSP00000355925:p.Gly498Cys					PROX1_ENST00000435016.1_Missense_Mutation_p.G498C|PROX1_ENST00000261454.4_Missense_Mutation_p.G498C|PROX1_ENST00000498508.2_Missense_Mutation_p.G498C	p.G498C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	2100	+			498					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1492G>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339043	0.60963	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.52057	0.7;0.68;0.7;0.7	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.68221	-0.5466	10	0.66056	D	0.02	-3.0054	19.8546	0.96752	0.0:0.0:1.0:0.0	.	498	Q92786	PROX1_HUMAN	C	70;498;498;498;498	ENSP00000420283:G498C;ENSP00000355925:G498C;ENSP00000400694:G498C;ENSP00000261454:G498C	ENSP00000261454:G498C	G	+	1	0	PROX1	212237993	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.536000	0.73842	2.697000	0.92050	0.655000	0.94253	GGT		0.562	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		6	112	1	0	3.59834e-05	1	4.01776e-05	6	112				
SPEG	10290	broad.mit.edu	37	2	220349114	220349114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220349114C>T	ENST00000312358.7	+	30	7061	c.6929C>T	c.(6928-6930)cCc>cTc	p.P2310L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2310	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCGAGTTCCCACGGTGCCC	0.682																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(6928-6930)cCc>cTc		SPEG complex locus							13.0	17.0	16.0					2																	220349114		1919	4045	5964	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220349114C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6929C>T	2.37:g.220349114C>T	ENSP00000311684:p.Pro2310Leu					SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.P2310L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	7061	+		Renal(207;0.0183)	2310			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.6929C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	8.473	0.857941	0.17178	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.12	4.12	0.48240	.	0.200433	0.24833	N	0.035235	T	0.48589	0.1508	N	0.24115	0.695	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.42447	-0.9451	10	0.87932	D	0	.	6.3399	0.21316	0.1846:0.7196:0.0:0.0958	.	2310	Q15772	SPEG_HUMAN	L	2310	ENSP00000311684:P2310L	ENSP00000265327:P2310L	P	+	2	0	SPEG	220057358	0.000000	0.05858	0.999000	0.59377	0.372000	0.29890	0.165000	0.16564	2.122000	0.65172	0.442000	0.29010	CCC		0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		6	7	0	0	0	1	0	6	7				
TTLL1	25809	broad.mit.edu	37	22	43471560	43471560	+	Silent	SNP	G	G	A	rs148475049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43471560G>A	ENST00000266254.7	-	3	273	c.33C>T	c.(31-33)atC>atT	p.I11I	TTLL1_ENST00000331018.7_Silent_p.I11I|TTLL1_ENST00000445824.1_Silent_p.I11I	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	11	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.I11I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CTGACTTCTCGATATCAGTGA	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0					ENST00000331018.7																			1	Substitution - coding silent(1)	p.I11I(1)	large_intestine(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(31-33)atC>atT		tubulin tyrosine ligase-like family, member 1		G		11,4393	17.9+/-39.9	0,11,2191	201.0	188.0	192.0		33	-0.2	1.0	22	dbSNP_134	192	0,8600		0,0,4300	no	coding-synonymous	TTLL1	NM_012263.4		0,11,6491	AA,AG,GG		0.0,0.2498,0.0846		11/424	43471560	11,12993	2202	4300	6502	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43471560G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.33C>T	22.37:g.43471560G>A						TTLL1_ENST00000266254.7_Silent_p.I11I|TTLL1_ENST00000445824.1_Silent_p.I11I	p.I11I			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	3	273	-		Ovarian(80;0.0694)	11			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.33C>T	CCDS14043.1																																																																																				0.413	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		74	120	0	0	0	1	0	74	120				
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178408655C>A	ENST00000462775.1	+	4	454	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P240H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(718-720)cCt>cAt		RAS protein activator like 2							143.0	130.0	135.0					1																	178408655		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178408655C>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.329C>A	1.37:g.178408655C>A	ENSP00000420558:p.Pro110His					RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H	p.P240H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			6	1537	+			110			C2.|Poly-Lys.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.719C>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345162	0.41498	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.93366	-3.21;-3.21;-3.21	6.17	6.17	0.99709	Pleckstrin homology domain (1);	0.247592	0.38164	N	0.001796	D	0.88138	0.6356	N	0.22421	0.69	0.28191	N	0.927767	B;P	0.44946	0.375;0.846	B;B	0.41202	0.139;0.35	D	0.85085	0.0948	10	0.72032	D	0.01	.	11.4783	0.50310	0.2266:0.6573:0.116:0.0	.	110;258	Q9UJF2;F8W755	NGAP_HUMAN;.	H	240;258;110	ENSP00000407768:P240H;ENSP00000356621:P258H;ENSP00000420558:P110H	ENSP00000356621:P258H	P	+	2	0	RASAL2	176675278	0.996000	0.38824	0.974000	0.42286	0.684000	0.39900	3.478000	0.53158	2.941000	0.99782	0.655000	0.94253	CCT		0.433	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		27	53	1	0	3.70037e-05	1	4.13145e-05	27	53				
MS4A5	64232	broad.mit.edu	37	11	60198381	60198381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60198381T>C	ENST00000300190.2	+	2	352	c.266T>C	c.(265-267)tTc>tCc	p.F89S	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	89						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GGATATCCATTCTGGGGCTCT	0.368																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(265-267)tTc>tCc		membrane-spanning 4-domains, subfamily A, member 5							121.0	120.0	121.0					11																	60198381		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60198381T>C	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.266T>C	11.37:g.60198381T>C	ENSP00000300190:p.Phe89Ser					MS4A5_ENST00000534071.1_3'UTR	p.F89S	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			2	352	+			89					Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.266T>C	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010021	0.54361	.	.	ENSG00000166930	ENST00000300190;ENST00000528093	T	0.03413	3.94	4.93	3.78	0.43462	.	0.428985	0.26286	N	0.025257	T	0.15696	0.0378	M	0.84156	2.68	0.33825	D	0.629576	D	0.58620	0.983	D	0.65443	0.935	T	0.11641	-1.0579	10	0.62326	D	0.03	-6.6916	8.619	0.33849	0.0:0.0:0.1942:0.8058	.	89	Q9H3V2	MS4A5_HUMAN	S	89;21	ENSP00000300190:F89S	ENSP00000300190:F89S	F	+	2	0	MS4A5	59954957	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.251000	0.51453	0.890000	0.36211	-0.313000	0.08912	TTC		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			13	100	0	0	0	1	0	13	100				
PEX10	5192	broad.mit.edu	37	1	2340118	2340118	+	Nonsense_Mutation	SNP	G	G	A	rs61750434		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2340118G>A	ENST00000447513.2	-	3	441	c.373C>T	c.(373-375)Cga>Tga	p.R125*	PEX10_ENST00000507596.1_Nonsense_Mutation_p.R125*|PEX10_ENST00000288774.3_Nonsense_Mutation_p.R125*|PEX10_ENST00000515760.1_5'UTR	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	125					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCAAGGGTCGCCCACTGTCG	0.706																																					GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	GRCh37	CM981515	PEX10	M	rs61750434	c.(373-375)Cga>Tga		peroxisomal biogenesis factor 10		G	stop/ARG,stop/ARG	1,4401		0,1,2200	22.0	27.0	25.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	373,373	-1.5	0.0	1	dbSNP_129	25	0,8588		0,0,4294	no	stop-gained,stop-gained	PEX10	NM_002617.3,NM_153818.1	,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,	125/327,125/347	2340118	1,12989	2201	4294	6495	SO:0001587	stop_gained	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2340118G>A	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"""RING-type (C3HC4) zinc fingers"""	8851	protein-coding gene	gene with protein product		602859	"""peroxisome biogenesis factor 10"""			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.373C>T	1.37:g.2340118G>A	ENSP00000407922:p.Arg125*					PEX10_ENST00000515760.1_5'UTR|PEX10_ENST00000447513.2_Nonsense_Mutation_p.R125*|PEX10_ENST00000507596.1_Nonsense_Mutation_p.R125*	p.R125*	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	3	400	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	125					B3KWD8|Q5T095|Q9BW90	Nonsense_Mutation	SNP	ENST00000447513.2	37	c.373C>T	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247894	0.22880	2.27E-4	0.0	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	.	.	.	4.18	-1.47	0.08772	.	0.520791	0.20121	N	0.098801	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.21	6.3635	0.21441	0.1306:0.0:0.4603:0.4091	rs61750434	.	.	.	X	125	.	ENSP00000288774:R125X	R	-	1	2	PEX10	2329978	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.127000	0.10547	-0.078000	0.12730	0.462000	0.41574	CGA		0.706	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		4	13	0	0	0	1	0	4	13				
SPRY4	81848	broad.mit.edu	37	5	141694663	141694663	+	Missense_Mutation	SNP	G	G	A	rs557985857		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694663G>A	ENST00000434127.2	-	2	254	c.11C>T	c.(10-12)cCg>cTg	p.P4L	SPRY4_ENST00000344120.4_Missense_Mutation_p.P27L|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	4					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGATCGGGGGCTCCAT	0.627									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(79-81)cCg>cTg		sprouty homolog 4 (Drosophila)							17.0	20.0	19.0					5																	141694663		2076	4078	6154	SO:0001583	missense	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694663G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.11C>T	5.37:g.141694663G>A	ENSP00000399468:p.Pro4Leu					SPRY4_ENST00000434127.2_Missense_Mutation_p.P4L	p.P27L	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	266	-		all_hematologic(541;0.118)	4					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.80C>T	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381038	0.61845	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.64438	-0.1;-0.05	5.5	4.58	0.56647	.	0.119657	0.53938	D	0.000044	T	0.44623	0.1302	N	0.14661	0.345	0.53005	D	0.999966	P;P	0.51791	0.948;0.804	B;B	0.40285	0.325;0.124	T	0.54589	-0.8271	10	0.72032	D	0.01	-19.0532	13.2635	0.60120	0.0:0.3438:0.6562:0.0	.	4;4	Q9C004-2;Q9C004	.;SPY4_HUMAN	L	27;4;4;4	ENSP00000344967:P27L;ENSP00000399468:P4L	ENSP00000344967:P27L	P	-	2	0	SPRY4	141674847	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.249000	0.65427	2.588000	0.87417	0.561000	0.74099	CCG		0.627	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			13	20	0	0	0	1	0	13	20				
PRSS38	339501	broad.mit.edu	37	1	228003901	228003901	+	Missense_Mutation	SNP	G	G	A	rs140039939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228003901G>A	ENST00000366757.3	+	2	283	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTCTGCGGCGGCTCCATCCT	0.672																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(259-261)Ggc>Agc		protease, serine, 38		G	SER/GLY	1,4403	2.1+/-5.4	0,1,2201	63.0	71.0	69.0		259	4.1	0.9	1	dbSNP_134	69	1,8593	1.2+/-3.3	0,1,4296	yes	missense	PRSS38	NM_183062.2	56	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	87/327	228003901	2,12996	2202	4297	6499	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003901G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.259G>A	1.37:g.228003901G>A	ENSP00000355719:p.Gly87Ser						p.G87S	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			2	283	+			87			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.259G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957520	0.73902	2.27E-4	1.16E-4	ENSG00000185888	ENST00000366757	T	0.81415	-1.49	4.13	4.13	0.48395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42294	D	0.000731	D	0.91901	0.7436	H	0.94222	3.51	0.48571	D	0.999671	D	0.89917	1.0	D	0.97110	1.0	D	0.93862	0.7154	10	0.72032	D	0.01	.	13.9194	0.63921	0.0:0.0:1.0:0.0	.	87	A1L453	PRS38_HUMAN	S	87	ENSP00000355719:G87S	ENSP00000355719:G87S	G	+	1	0	PRSS38	226070524	1.000000	0.71417	0.931000	0.37212	0.603000	0.37013	4.707000	0.61852	2.140000	0.66376	0.467000	0.42956	GGC		0.672	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		22	72	0	0	0	1	0	22	72				
SVEP1	79987	broad.mit.edu	37	9	113170044	113170044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113170044G>A	ENST00000401783.2	-	38	8172	c.7836C>T	c.(7834-7836)gaC>gaT	p.D2612D	SVEP1_ENST00000374469.1_Silent_p.D2589D|SVEP1_ENST00000297826.5_Silent_p.D538D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2612					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGGCCACAGTCTATTGGCA	0.463																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(7834-7836)gaC>gaT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							172.0	171.0	171.0					9																	113170044		1951	4155	6106	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170044G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7836C>T	9.37:g.113170044G>A						SVEP1_ENST00000374469.1_Silent_p.D2589D|SVEP1_ENST00000297826.5_Silent_p.D538D	p.D2612D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	8172	-			2612					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.7836C>T	CCDS48004.1																																																																																				0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				68	108	0	0	0	1	0	68	108				
FCGBP	8857	broad.mit.edu	37	19	40419877	40419877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40419877G>A	ENST00000221347.6	-	6	3124	c.3117C>T	c.(3115-3117)ggC>ggT	p.G1039G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1039	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCTCCACAGCCGGGCCTCG	0.622																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3115-3117)ggC>ggT		Fc fragment of IgG binding protein							69.0	59.0	62.0					19																	40419877		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40419877G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3117C>T	19.37:g.40419877G>A							p.G1039G	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	3124	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1039			VWFD 2.		O95784	Silent	SNP	ENST00000221347.6	37	c.3117C>T	CCDS12546.1																																																																																				0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		15	28	0	0	0	1	0	15	28				
KIAA1429	25962	broad.mit.edu	37	8	95522041	95522041	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95522041C>A	ENST00000297591.5	-	15	3829	c.3754G>T	c.(3754-3756)Ggt>Tgt	p.G1252C	KIAA1429_ENST00000437199.1_Missense_Mutation_p.G1252C|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1252					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTTCATCACCTTTAATAGTT	0.403																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3754-3756)Ggt>Tgt		KIAA1429							95.0	94.0	94.0					8																	95522041		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95522041C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3754G>T	8.37:g.95522041C>A	ENSP00000297591:p.Gly1252Cys					KIAA1429_ENST00000437199.1_Missense_Mutation_p.G1252C|KIAA1429_ENST00000523405.1_5'UTR	p.G1252C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		15	3829	-	Breast(36;3.29e-05)		1252					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.3754G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333822	0.60853	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.67698	0.76;-0.28	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74572	-0.3621	10	0.42905	T	0.14	-17.74	20.1006	0.97874	0.0:1.0:0.0:0.0	.	1252	Q69YN4	VIR_HUMAN	C	1252	ENSP00000297591:G1252C;ENSP00000395600:G1252C	ENSP00000297591:G1252C	G	-	1	0	KIAA1429	95591217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.513000	0.73742	2.757000	0.94681	0.561000	0.74099	GGT		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		4	44	1	0	0.00909568	1	0.00947522	4	44				
ZNF572	137209	broad.mit.edu	37	8	125989977	125989977	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125989977T>C	ENST00000319286.5	+	3	1621	c.1467T>C	c.(1465-1467)atT>atC	p.I489I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCGGAAAATTCACGTAGAAA	0.463										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(1465-1467)atT>atC		zinc finger protein 572							116.0	122.0	120.0					8																	125989977		2203	4300	6503	SO:0001819	synonymous_variant	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989977T>C	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1467T>C	8.37:g.125989977T>C		HNSCC(60;0.17)					p.I489I	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1621	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		489					A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	c.1467T>C	CCDS6354.1																																																																																				0.463	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		9	128	0	0	0	1	0	9	128				
STIP1	10963	broad.mit.edu	37	11	63960582	63960582	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63960582C>T	ENST00000305218.4	+	2	189	c.42C>T	c.(40-42)gcC>gcT	p.A14A	STIP1_ENST00000358794.5_Silent_p.A61A|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Silent_p.A14A|STIP1_ENST00000538945.1_Silent_p.A14A	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	14					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCAACAAGGCCCTGAGCGTGG	0.498																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(181-183)gcC>gcT		stress-induced-phosphoprotein 1							159.0	118.0	132.0					11																	63960582		2201	4297	6498	SO:0001819	synonymous_variant	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63960582C>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.42C>T	11.37:g.63960582C>T						STIP1_ENST00000538945.1_Silent_p.A14A|STIP1_ENST00000543847.1_Silent_p.A14A|STIP1_ENST00000305218.4_Silent_p.A14A|STIP1_ENST00000540501.1_3'UTR	p.A61A			P31948	STIP1_HUMAN			2	736	+			14					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	37	c.183C>T	CCDS8058.1																																																																																				0.498	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		17	29	0	0	0	1	0	17	29				
ROBO2	6092	broad.mit.edu	37	3	77600102	77600102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600102G>A	ENST00000461745.1	+	8	2093	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	ROBO2_ENST00000487694.3_Missense_Mutation_p.G414E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G398E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	398	Ig-like C2-type 4.				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)		ACTGTGGCAGGAAGCATTTTA	0.413																																						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.(1192-1194)gGa>gAa		roundabout, axon guidance receptor, homolog 2 (Drosophila)							68.0	66.0	66.0					3																	77600102		1900	4127	6027	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.chr3:77600102G>A	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.1193G>A	3.37:g.77600102G>A	ENSP00000417164:p.Gly398Glu					ROBO2_ENST00000332191.8_Missense_Mutation_p.G398E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G414E	p.G398E	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)	8	2093	+			398			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1193G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198008	0.79015	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	D;D;D	0.83075	-1.68;-1.68;-1.68	5.49	5.49	0.81192	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000425	D	0.94032	0.8088	H	0.94264	3.515	0.45962	D	0.998785	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95095	0.8225	9	0.87932	D	0	.	19.7188	0.96134	0.0:0.0:1.0:0.0	.	414;398;398	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	E	414;414;418;398;398;119	ENSP00000417335:G414E;ENSP00000417164:G398E;ENSP00000327536:G398E	ENSP00000327536:G398E	G	+	2	0	ROBO2	77682792	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	9.813000	0.99286	2.742000	0.94016	0.591000	0.81541	GGA		0.413	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		21	37	0	0	0	1	0	21	37				
APOC4	346	broad.mit.edu	37	19	45445551	45445551	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45445551A>T	ENST00000592954.1	+	1	57	c.17A>T	c.(16-18)aAc>aTc	p.N6I	APOC4_ENST00000591600.1_Missense_Mutation_p.N6I|APOC4_ENST00000419266.2_Missense_Mutation_p.N6I|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.N6I	NM_001646.2	NP_001637.1	P55056	APOC4_HUMAN	apolipoprotein C-IV	6					lipid metabolic process (GO:0006629)|positive regulation of sequestering of triglyceride (GO:0010890)|triglyceride homeostasis (GO:0070328)	high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		CTCCTCAGAAACAGGCTCCAG	0.672																																						ENST00000419266.2																			0											c.(16-18)aAc>aTc									65.0	54.0	58.0					19																	45445551		2203	4300	6503	SO:0001583	missense	0							g.chr19:45445551A>T	U32576	CCDS12649.1	19q13.2	2013-09-30			ENSG00000267467	ENSG00000267467		"""Apolipoproteins"""	611	protein-coding gene	gene with protein product		600745				8530039	Standard	NM_001646		Approved			P55056	OTTHUMG00000180845	ENST00000592954.1:c.17A>T	19.37:g.45445551A>T	ENSP00000468236:p.Asn6Ile					APOC4_ENST00000591600.1_Missense_Mutation_p.N6I|APOC4_ENST00000592954.1_Missense_Mutation_p.N6I|APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.N6I|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.N6I	p.N6I							1	57	+								B3KWY6|Q53YY8	Missense_Mutation	SNP	ENST00000592954.1	37	c.17A>T	CCDS12649.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074027	0.36566	.	.	ENSG00000224916	ENST00000419266;ENST00000436871	T;T	0.17054	2.3;2.3	3.06	-5.58	0.02512	.	3.833190	0.00541	N	0.000238	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B	0.26577	0.153	B	0.22880	0.042	T	0.15492	-1.0435	10	0.22706	T	0.39	2.3627	0.1476	0.00089	0.3297:0.1502:0.2163:0.3038	.	6	P55056	APOC4_HUMAN	I	6	ENSP00000406381:N6I;ENSP00000412935:N6I	ENSP00000406381:N6I	N	+	2	0	APOC4	50137391	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.462000	0.02364	-1.076000	0.03125	-0.375000	0.07067	AAC		0.672	APOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453255.1	NM_001646		7	5	0	0	0	1	0	7	5				
STRN4	29888	broad.mit.edu	37	19	47228077	47228077	+	Silent	SNP	G	G	T	rs201498402	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228077G>T	ENST00000263280.6	-	12	1630	c.1581C>A	c.(1579-1581)ccC>ccA	p.P527P	STRN4_ENST00000391910.3_Silent_p.P534P|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Silent_p.P408P	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	527						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGCCATCATAGGGATCCATGC	0.597																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1600-1602)ccC>ccA		striatin, calmodulin binding protein 4							117.0	80.0	93.0					19																	47228077		2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228077G>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1581C>A	19.37:g.47228077G>T						STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Silent_p.P408P|STRN4_ENST00000263280.6_Silent_p.P527P	p.P534P			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	12	2052	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	527					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1602C>A	CCDS12690.1																																																																																				0.597	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			12	15	1	0	0.010729	1	0.0111717	12	15				
ANKLE2	23141	broad.mit.edu	37	12	133324479	133324479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133324479G>A	ENST00000357997.5	-	5	1258	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V	ANKLE2_ENST00000539605.1_Missense_Mutation_p.A328V|ANKLE2_ENST00000337516.5_Missense_Mutation_p.A390V	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	390					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGCAGCATGGCCTCGTCGTC	0.542																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(982-984)gCc>gTc		ankyrin repeat and LEM domain containing 2							131.0	139.0	137.0					12																	133324479		2183	4266	6449	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133324479G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1169C>T	12.37:g.133324479G>A	ENSP00000350686:p.Ala390Val					ANKLE2_ENST00000337516.5_Missense_Mutation_p.A390V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.A390V	p.A328V			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	4	7667	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	390					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.983C>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	5.410	0.260782	0.10239	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623;ENST00000546061	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.55	-9.37	0.00626	Ankyrin repeat-containing domain (2);	1.332290	0.04393	N	0.362744	T	0.16811	0.0404	N	0.03608	-0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.002	T	0.08764	-1.0706	10	0.30078	T	0.28	0.073	2.174	0.03857	0.1577:0.1261:0.232:0.4842	.	390;390	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	V	328;390;390;160;36	ENSP00000446268:A328V;ENSP00000350686:A390V;ENSP00000337651:A390V;ENSP00000438515:A160V;ENSP00000445718:A36V	ENSP00000337651:A390V	A	-	2	0	ANKLE2	131834552	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-2.374000	0.01072	-1.444000	0.01950	-0.182000	0.12963	GCC		0.542	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			22	35	0	0	0	1	0	22	35				
SCLY	51540	broad.mit.edu	37	2	238990708	238990708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238990708G>A	ENST00000555827.1	+	6	699	c.635G>A	c.(634-636)cGc>cAc	p.R212H	SCLY_ENST00000373332.3_Missense_Mutation_p.R130H|SCLY_ENST00000422984.2_Missense_Mutation_p.R118H|SCLY_ENST00000254663.6_Missense_Mutation_p.R220H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000409736.2_Missense_Mutation_p.R212H			Q96I15	SCLY_HUMAN	selenocysteine lyase	212					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATCAGTCAGCGCATTAAAGCC	0.547																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(658-660)cGc>cAc		selenocysteine lyase							129.0	122.0	124.0					2																	238990708		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238990708G>A	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.635G>A	2.37:g.238990708G>A	ENSP00000450613:p.Arg212His					SCLY_ENST00000373332.3_Missense_Mutation_p.R130H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000555827.1_Missense_Mutation_p.R212H|SCLY_ENST00000409736.2_Missense_Mutation_p.R212H|SCLY_ENST00000422984.2_Missense_Mutation_p.R118H	p.R220H	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	6	801	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	212					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.659G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.250|5.250	0.231531|0.231531	0.09969|0.09969	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000431487|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.86497	.|1.96;1.96;1.54;-2.13;1.54;1.96;1.54	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.120852	.|0.56097	.|D	.|0.000032	D|D	0.86125|0.86125	0.5858|0.5858	M|M	0.80508|0.80508	2.5|2.5	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.33000	.|0.275;0.393;0.198	.|B;B;B	.|0.26693	.|0.072;0.064;0.01	D|D	0.86677|0.86677	0.1914|0.1914	5|10	.|0.87932	.|D	.|0	-22.4021|-22.4021	12.086|12.086	0.53698|0.53698	0.0828:0.0:0.9172:0.0|0.0828:0.0:0.9172:0.0	.|.	.|118;212;212	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	T|H	58|220;212;130;126;212;118;42	.|ENSP00000254663:R220H;ENSP00000450613:R212H;ENSP00000362429:R130H;ENSP00000414165:R126H;ENSP00000387162:R212H;ENSP00000416865:R118H;ENSP00000414053:R42H	.|ENSP00000254663:R212H	A|R	+|+	1|2	0|0	SCLY|SCLY	238655447|238655447	0.806000|0.806000	0.28996|0.28996	0.155000|0.155000	0.22561|0.22561	0.006000|0.006000	0.05464|0.05464	2.712000|2.712000	0.47186|0.47186	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.547	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		48	90	0	0	0	1	0	48	90				
DST	667	broad.mit.edu	37	6	56394563	56394563	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56394563C>A	ENST00000244364.6	-	47	9616	c.9409G>T	c.(9409-9411)Gat>Tat	p.D3137Y	DST_ENST00000370769.4_Missense_Mutation_p.D5551Y|DST_ENST00000446842.2_Missense_Mutation_p.D5225Y|DST_ENST00000421834.2_Missense_Mutation_p.D3463Y|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.D5729Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_3'UTR	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5549					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGATGTCATCTTCTAAGGCC	0.328																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(17185-17187)Gat>Tat		dystonin							51.0	46.0	48.0					6																	56394563		1814	4076	5890	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56394563C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9409G>T	6.37:g.56394563C>A	ENSP00000244364:p.Asp3137Tyr					DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D5551Y|DST_ENST00000421834.2_Missense_Mutation_p.D3463Y|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Missense_Mutation_p.D3137Y|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D5225Y|DST_ENST00000340834.4_5'UTR	p.D5729Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		66	17184	-	Lung NSC(77;0.103)		5549					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	c.17185G>T	CCDS47443.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223642	0.58668	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.76	5.76	0.90799	.	0.129378	0.34002	N	0.004349	T	0.59636	0.2208	L	0.50333	1.59	0.30555	N	0.765104	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.99;0.96	D;D;D;D;P	0.74348	0.964;0.983;0.979;0.947;0.891	T	0.60510	-0.7249	9	0.72032	D	0.01	.	19.9624	0.97256	0.0:1.0:0.0:0.0	.	3463;5551;5729;5549;3137	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Y	3137;5729;5551;3463;5225	ENSP00000244364:D3137Y;ENSP00000359790:D5729Y;ENSP00000359805:D5551Y;ENSP00000400883:D3463Y;ENSP00000393645:D5225Y	ENSP00000244364:D3137Y	D	-	1	0	DST	56502522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.733000	0.93635	0.555000	0.69702	GAT		0.328	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		10	10	1	0	2.17888e-05	1	2.45068e-05	10	10				
GBP5	115362	broad.mit.edu	37	1	89729442	89729442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89729442G>A	ENST00000370459.3	-	8	1466	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.R447W			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	447						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CGAGGCTCCCGATAGTACTTT	0.438																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1339-1341)Cgg>Tgg		guanylate binding protein 5							157.0	150.0	152.0					1																	89729442		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729442G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1339C>T	1.37:g.89729442G>A	ENSP00000359488:p.Arg447Trp					GBP5_ENST00000370459.3_Missense_Mutation_p.R447W|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR	p.R447W	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1875	-			447					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1339C>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290756	0.23564	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02177	4.41;4.41;4.41	4.94	4.01	0.46588	Guanylate-binding protein, C-terminal (3);	0.479174	0.20911	N	0.083464	T	0.00695	0.0023	N	0.14661	0.345	0.09310	N	0.999992	B	0.11235	0.004	B	0.13407	0.009	T	0.49072	-0.8977	10	0.62326	D	0.03	-8.1912	10.6914	0.45872	0.0:0.0:0.6521:0.3479	.	447	Q96PP8	GBP5_HUMAN	W	447	ENSP00000340396:R447W;ENSP00000359488:R447W;ENSP00000403010:R447W	ENSP00000340396:R447W	R	-	1	2	GBP5	89502030	0.002000	0.14202	0.684000	0.30055	0.225000	0.24961	0.982000	0.29539	1.457000	0.47850	-0.333000	0.08304	CGG		0.438	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		38	128	0	0	0	1	0	38	128				
MICAL1	64780	broad.mit.edu	37	6	109767545	109767545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109767545G>A	ENST00000358807.3	-	19	2686	c.2375C>T	c.(2374-2376)gCc>gTc	p.A792V	MICAL1_ENST00000368952.4_Missense_Mutation_p.A811V|MICAL1_ENST00000358577.3_Missense_Mutation_p.A706V	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	792					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AACAGGACCGGCCCCCTCCTG	0.647																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2431-2433)gCc>gTc		microtubule associated monooxygenase, calponin and LIM domain containing 1							57.0	70.0	66.0					6																	109767545		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109767545G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2375C>T	6.37:g.109767545G>A	ENSP00000351664:p.Ala792Val					MICAL1_ENST00000358807.3_Missense_Mutation_p.A792V|MICAL1_ENST00000358577.3_Missense_Mutation_p.A706V	p.A811V			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	19	2722	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	792					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2432C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	9.777	1.174176	0.21704	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.51574	0.71;0.7;0.7	5.35	-2.39	0.06602	.	2.196300	0.01605	N	0.022220	T	0.10380	0.0254	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15473	0.001;0.013;0.001	B;B;B	0.12837	0.001;0.008;0.001	T	0.04178	-1.0971	10	0.13470	T	0.59	.	1.6568	0.02783	0.226:0.1021:0.4096:0.2623	.	811;706;792	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	V	792;811;706;316;48	ENSP00000351664:A792V;ENSP00000357948:A811V;ENSP00000351385:A706V	ENSP00000335372:A48V	A	-	2	0	MICAL1	109874238	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.585000	0.05905	-1.731000	0.00696	GCC		0.647	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		37	64	0	0	0	1	0	37	64				
KIAA1407	57577	broad.mit.edu	37	3	113684177	113684177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113684177C>T	ENST00000295878.3	-	17	2782	c.2636G>A	c.(2635-2637)tGg>tAg	p.W879*		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	879										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAACTTCTTCCATGTCCGAAG	0.373																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2635-2637)tGg>tAg		KIAA1407							86.0	91.0	89.0					3																	113684177		2203	4300	6503	SO:0001587	stop_gained	57577							g.chr3:113684177C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2636G>A	3.37:g.113684177C>T	ENSP00000295878:p.Trp879*						p.W879*	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2782	-			879					B4DYL1|Q9P2E0	Nonsense_Mutation	SNP	ENST00000295878.3	37	c.2636G>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	37	6.370174	0.97511	.	.	ENSG00000163617	ENST00000295878	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9032	0.92451	0.0:1.0:0.0:0.0	.	.	.	.	X	879	.	ENSP00000295878:W879X	W	-	2	0	KIAA1407	115166867	1.000000	0.71417	0.990000	0.47175	0.406000	0.30931	5.808000	0.69165	2.442000	0.82660	0.650000	0.86243	TGG		0.373	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		10	106	0	0	0	1	0	10	106				
DRP2	1821	broad.mit.edu	37	X	100503523	100503523	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100503523G>A	ENST00000395209.3	+	14	2002	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	DRP2_ENST00000538510.1_Missense_Mutation_p.R492Q|DRP2_ENST00000541709.1_Missense_Mutation_p.R414Q|DRP2_ENST00000402866.1_Missense_Mutation_p.R492Q	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	492					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAAAGATGCGGGCATTGTCT	0.433																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1474-1476)cGg>cAg		dystrophin related protein 2							256.0	238.0	244.0					X																	100503523		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100503523G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1475G>A	X.37:g.100503523G>A	ENSP00000378635:p.Arg492Gln					DRP2_ENST00000541709.1_Missense_Mutation_p.R414Q|DRP2_ENST00000402866.1_Missense_Mutation_p.R492Q|DRP2_ENST00000538510.1_Missense_Mutation_p.R492Q	p.R492Q	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			14	2002	+			492					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1475G>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	32	5.163691	0.94727	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.07	5.07	0.68467	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.81647	-0.0838	10	0.87932	D	0	-17.0389	17.6826	0.88248	0.0:0.0:1.0:0.0	.	492	Q13474	DRP2_HUMAN	Q	492;492;414;492	ENSP00000385038:R492Q;ENSP00000378635:R492Q;ENSP00000444752:R414Q;ENSP00000441051:R492Q	ENSP00000378635:R492Q	R	+	2	0	DRP2	100390179	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.624000	0.98398	2.104000	0.64026	0.513000	0.50165	CGG		0.433	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		33	332	0	0	0	1	0	33	332				
PLEC	5339	broad.mit.edu	37	8	145016656	145016656	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145016656A>G	ENST00000322810.4	-	2	693				PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354589.3_Intron|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000357649.2_Missense_Mutation_p.S10P|PLEC_ENST00000345136.3_5'Flank	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCTCGGCGAGGCAAAGGCG	0.751																																						ENST00000357649.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(28-30)Tcg>Ccg		plectin							5.0	7.0	6.0					8																	145016656		1673	3829	5502	SO:0001627	intron_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145016656A>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.524-3796T>C	8.37:g.145016656A>G						PLEC_ENST00000354589.3_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000398774.2_Intron	p.S10P	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN			1	36	-			0			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.28T>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604732	0.28623	.	.	ENSG00000178209	ENST00000357649	T	0.76839	-1.05	3.52	-1.1	0.09872	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.20196	N	0.999929	B	0.02656	0.0	B	0.01281	0.0	T	0.40251	-0.9573	8	0.31617	T	0.26	.	3.3132	0.07024	0.3891:0.2502:0.0:0.3607	.	10	Q15149-6	.	P	10	ENSP00000350277:S10P	ENSP00000350277:S10P	S	-	1	0	PLEC	145088644	0.002000	0.14202	0.004000	0.12327	0.043000	0.13939	-0.062000	0.11674	-0.085000	0.12573	0.459000	0.35465	TCG		0.751	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	4	0	0	0	1	0	5	4				
ZNF100	163227	broad.mit.edu	37	19	21910280	21910280	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21910280T>C	ENST00000358296.6	-	5	1032	c.834A>G	c.(832-834)acA>acG	p.T278T	ZNF100_ENST00000305570.6_Silent_p.T214T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTATCTTATGTGTAGTAAGGT	0.388																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(832-834)acA>acG		zinc finger protein 100							45.0	49.0	48.0					19																	21910280		2194	4289	6483	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910280T>C	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.834A>G	19.37:g.21910280T>C						ZNF100_ENST00000305570.6_Silent_p.T214T	p.T278T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	1032	-			278					Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.834A>G	CCDS42538.1																																																																																				0.388	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		14	30	0	0	0	1	0	14	30				
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123813655C>T	ENST00000321252.2	-	1	925	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(889-891)gtG>gtA		olfactory receptor, family 6, subfamily T, member 1							200.0	182.0	188.0					11																	123813655		2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813655C>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.891G>A	11.37:g.123813655C>T							p.V297V	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	925	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	297					Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.891G>A	CCDS31700.1																																																																																				0.502	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		46	107	0	0	0	1	0	46	107				
TOR1A	1861	broad.mit.edu	37	9	132584875	132584875	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132584875G>A	ENST00000351698.4	-	2	477	c.429C>T	c.(427-429)aaC>aaT	p.N143N	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	143	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				ACAAGGTGATGTTTGAAGCAT	0.468																																						ENST00000351698.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(427-429)aaC>aaT		torsin family 1, member A (torsin A)							127.0	103.0	111.0					9																	132584875		2203	4300	6503	SO:0001819	synonymous_variant	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132584875G>A	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.429C>T	9.37:g.132584875G>A						TOR1A_ENST00000473084.1_5'UTR	p.N143N	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			2	477	-		Ovarian(14;0.00556)	143					B2RB58|Q53Y64|Q96CA0	Silent	SNP	ENST00000351698.4	37	c.429C>T	CCDS6930.1																																																																																				0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		7	47	0	0	0	1	0	7	47				
OLFM3	118427	broad.mit.edu	37	1	102302451	102302451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102302451C>T	ENST00000338858.5	-	2	259	c.260G>A	c.(259-261)cGc>cAc	p.R87H	OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.R67H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R87H|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	87					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.R67L(1)|p.R87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGTAGTTGGCGAAGTTGCCT	0.458																																						ENST00000370103.4																			2	Substitution - Missense(2)	p.R67L(1)|p.R87L(1)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(199-201)cGc>cAc		olfactomedin 3							125.0	117.0	120.0					1																	102302451		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102302451C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.260G>A	1.37:g.102302451C>T	ENSP00000345192:p.Arg87His					OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R87H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R87H	p.R67H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	2	413	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	87					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.163433	0.94727	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	T;T;T	0.53423	0.62;0.62;0.62	5.62	5.62	0.85841	.	0.055319	0.64402	D	0.000001	T	0.62986	0.2473	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.982;0.995	T	0.62699	-0.6799	10	0.52906	T	0.07	.	19.2804	0.94051	0.0:1.0:0.0:0.0	.	67;87	Q5T3V6;Q96PB7	.;NOE3_HUMAN	H	67;87;87	ENSP00000359121:R67H;ENSP00000345192:R87H;ENSP00000352867:R87H	ENSP00000345192:R87H	R	-	2	0	OLFM3	102075039	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.047000	0.71038	2.639000	0.89480	0.585000	0.79938	CGC		0.458	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			29	75	0	0	0	1	0	29	75				
SLC44A1	23446	broad.mit.edu	37	9	108126892	108126892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108126892C>T	ENST00000374720.3	+	10	1391	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	SLC44A1_ENST00000343170.7_Nonsense_Mutation_p.Q174*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.Q382*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	382					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGGCCTCTGCAGTACATGTG	0.443																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1144-1146)Cag>Tag		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						177.0	169.0	172.0					9																	108126892		2203	4300	6503	SO:0001587	stop_gained	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108126892C>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1144C>T	9.37:g.108126892C>T	ENSP00000363852:p.Gln382*					SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000343170.7_Nonsense_Mutation_p.Q174*	p.Q382*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			10	1391	+			382					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Nonsense_Mutation	SNP	ENST00000374720.3	37	c.1144C>T	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	40	8.381494	0.98786	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	.	.	.	5.96	5.96	0.96718	.	0.107189	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-10.274	15.0476	0.71838	0.1751:0.8249:0.0:0.0	.	.	.	.	X	382;382;382;174	.	ENSP00000341856:Q174X	Q	+	1	0	SLC44A1	107166713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.012000	0.64017	2.831000	0.97527	0.650000	0.86243	CAG		0.443	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		6	150	0	0	0	1	0	6	150				
C1orf43	25912	broad.mit.edu	37	1	154184972	154184972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154184972G>T	ENST00000368521.5	-	5	667	c.469C>A	c.(469-471)Ctt>Att	p.L157I	C1orf43_ENST00000362076.4_Missense_Mutation_p.L105I|C1orf43_ENST00000350592.3_Missense_Mutation_p.L123I|C1orf43_ENST00000368519.1_Missense_Mutation_p.L139I|C1orf43_ENST00000368516.1_Missense_Mutation_p.L123I|C1orf43_ENST00000368518.1_Missense_Mutation_p.L157I	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	157						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATCCAAAAGGGTATCAATG	0.498																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(469-471)Ctt>Att		chromosome 1 open reading frame 43							90.0	82.0	85.0					1																	154184972		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154184972G>T	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.469C>A	1.37:g.154184972G>T	ENSP00000357507:p.Leu157Ile					C1orf43_ENST00000368519.1_Missense_Mutation_p.L139I|C1orf43_ENST00000362076.4_Missense_Mutation_p.L105I|C1orf43_ENST00000368516.1_Missense_Mutation_p.L123I|C1orf43_ENST00000368518.1_Missense_Mutation_p.L157I|C1orf43_ENST00000350592.3_Missense_Mutation_p.L123I	p.L157I	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			5	667	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		157					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.469C>A	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180496	0.57800	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	3.53	0.40419	Dehydrogenase, multihelical (1);	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	L	0.49350	1.555	0.47276	D	0.999376	D;D;D;D;D	0.76494	0.999;0.998;0.99;0.996;0.999	D;D;P;D;D	0.87578	0.921;0.996;0.837;0.978;0.998	T	0.58399	-0.7643	9	0.42905	T	0.14	-16.9975	10.1618	0.42855	0.2222:0.0:0.7778:0.0	.	139;123;157;105;123	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	I	123;157;105;139;157;123	.	ENSP00000271925:L123I	L	-	1	0	C1orf43	152451596	0.132000	0.22450	1.000000	0.80357	0.523000	0.34469	0.200000	0.17257	0.847000	0.35167	0.585000	0.79938	CTT		0.498	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		7	65	1	0	1.26484e-09	1	1.54084e-09	7	65				
RAPGEF3	10411	broad.mit.edu	37	12	48141499	48141499	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48141499A>T	ENST00000449771.2	-	14	1557	c.1469T>A	c.(1468-1470)cTc>cAc	p.L490H	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.L490H|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.L448H|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L448H|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L490H			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	490	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTACCTGGAGGAAGCTGGT	0.597																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(1342-1344)cTc>cAc		Rap guanine nucleotide exchange factor (GEF) 3							37.0	39.0	38.0					12																	48141499		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48141499A>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1469T>A	12.37:g.48141499A>T	ENSP00000395708:p.Leu490His					RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L490H|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.L490H|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L490H|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L448H	p.L448H	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	14	1552	-	Lung SC(27;0.192)		448					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.1343T>A	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555688	0.65425	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.99	4.99	0.66335	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79329	-0.1848	10	0.87932	D	0	.	13.9686	0.64225	1.0:0.0:0.0:0.0	.	490	O95398	RPGF3_HUMAN	H	448;490;137;448;448;448;490;502;448;490	ENSP00000384521:L448H;ENSP00000395708:L490H;ENSP00000448619:L448H;ENSP00000171000:L448H;ENSP00000373864:L490H;ENSP00000448480:L448H;ENSP00000378764:L490H	ENSP00000171000:L448H	L	-	2	0	RAPGEF3	46427766	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	8.443000	0.90320	2.233000	0.73108	0.533000	0.62120	CTC		0.597	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		4	38	0	0	0	1	0	4	38				
RAD54L	8438	broad.mit.edu	37	1	46738396	46738396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46738396C>T	ENST00000371975.4	+	12	1971	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P433S|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	433					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACAAGCCAAACCGGCAGAAGA	0.493								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1297-1299)Ccg>Tcg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							136.0	123.0	127.0					1																	46738396		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46738396C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1297C>T	1.37:g.46738396C>T	ENSP00000361043:p.Pro433Ser					RAD54L_ENST00000442598.1_Missense_Mutation_p.P433S|RAD54L_ENST00000488942.1_3'UTR	p.P433S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	12	1971	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	433					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1297C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918805	0.17982	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.74526	-0.85;-0.85	5.01	5.01	0.66863	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	N	0.11023	0.085	0.80722	D	1	B;P	0.42248	0.049;0.774	B;B	0.36534	0.003;0.227	T	0.57917	-0.7728	10	0.20519	T	0.43	-8.6562	18.5571	0.91089	0.0:1.0:0.0:0.0	.	253;433	G3V1N0;Q92698	.;RAD54_HUMAN	S	433;433;253	ENSP00000396113:P433S;ENSP00000361043:P433S	ENSP00000361043:P433S	P	+	1	0	RAD54L	46510983	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	5.564000	0.67359	2.618000	0.88619	0.650000	0.86243	CCG		0.493	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		37	42	0	0	0	1	0	37	42				
BRPF1	7862	broad.mit.edu	37	3	9789022	9789022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9789022G>A	ENST00000457855.1	+	13	3645	c.3634G>A	c.(3634-3636)Gat>Aat	p.D1212N	OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000344629.7_5'Flank|BRPF1_ENST00000424362.1_Missense_Mutation_p.D1211N|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000302003.7_5'Flank|BRPF1_ENST00000433861.2_Missense_Mutation_p.D1117N|OGG1_ENST00000449570.2_5'Flank|BRPF1_ENST00000302054.3_Missense_Mutation_p.D1212N|BRPF1_ENST00000383829.2_Missense_Mutation_p.D1218N|OGG1_ENST00000302008.8_5'Flank|OGG1_ENST00000383826.5_5'Flank|OGG1_ENST00000302036.7_5'Flank			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1212					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGAGACCAGCGATAGTGATTG	0.582																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(3652-3654)Gat>Aat		bromodomain and PHD finger containing, 1							129.0	101.0	110.0					3																	9789022		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9789022G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3634G>A	3.37:g.9789022G>A	ENSP00000410210:p.Asp1212Asn					BRPF1_ENST00000433861.2_Missense_Mutation_p.D1117N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D1211N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D1212N|BRPF1_ENST00000302054.3_Missense_Mutation_p.D1212N	p.D1218N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			14	4056	+	Medulloblastoma(99;0.227)		1212					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3652G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428081	0.83667	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.24151	2.05;1.91;3.31;1.87;1.87	5.61	5.61	0.85477	.	0.052068	0.85682	D	0.000000	T	0.17704	0.0425	N	0.17082	0.46	0.58432	D	0.999999	P;P;P;P	0.41748	0.761;0.761;0.761;0.649	B;B;B;B	0.34652	0.187;0.187;0.187;0.091	T	0.02774	-1.1112	10	0.38643	T	0.18	.	19.2462	0.93904	0.0:0.0:1.0:0.0	.	1117;1211;1218;1212	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	N	1117;1211;1218;1212;1212	ENSP00000402485:D1117N;ENSP00000398863:D1211N;ENSP00000373340:D1218N;ENSP00000306297:D1212N;ENSP00000410210:D1212N	ENSP00000306297:D1212N	D	+	1	0	BRPF1	9764022	1.000000	0.71417	0.524000	0.27887	0.776000	0.43924	9.673000	0.98631	2.646000	0.89796	0.563000	0.77884	GAT		0.582	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		29	47	0	0	0	1	0	29	47				
ABI2	10152	broad.mit.edu	37	2	204245034	204245034	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204245034T>A	ENST00000422511.2	+	3	420	c.389T>A	c.(388-390)cTt>cAt	p.L130H	ABI2_ENST00000261016.6_Missense_Mutation_p.L85H|ABI2_ENST00000424558.1_Missense_Mutation_p.L130H|ABI2_ENST00000295851.5_Missense_Mutation_p.L130H|ABI2_ENST00000261018.7_5'Flank|ABI2_ENST00000430418.1_Missense_Mutation_p.L130H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.L130H			Q9NYB9	ABI2_HUMAN	abl-interactor 2	130					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAGCCAACCTTGAACGACCA	0.318																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(388-390)cTt>cAt		abl-interactor 2							107.0	112.0	110.0					2																	204245034		2203	4297	6500	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204245034T>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.389T>A	2.37:g.204245034T>A	ENSP00000396249:p.Leu130His					ABI2_ENST00000422511.2_Missense_Mutation_p.L130H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.L130H|ABI2_ENST00000261016.6_Missense_Mutation_p.L85H|ABI2_ENST00000430418.1_Missense_Mutation_p.L130H|ABI2_ENST00000424558.1_Missense_Mutation_p.L130H	p.L130H			Q9NYB9	ABI2_HUMAN			3	685	+			130					B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.389T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.9|21.9	4.220492|4.220492	0.79464|0.79464	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511|ENST00000451591	D;D;D;D;T;D;D|T	0.92446|0.47177	-3.03;-3.04;-3.04;-3.04;1.07;-3.03;-3.03|0.85	5.54|5.54	5.54|5.54	0.83059|0.83059	Abl-interactor, homeo-domain homologous domain (1);|.	0.060447|0.060447	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.45836|0.45836	0.1362|0.1362	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.71674|.	0.998;0.996;0.996;0.997;0.882|.	D;D;P;D;P|.	0.67231|.	0.95;0.91;0.794;0.946;0.796|.	T|T	0.34254|0.34254	-0.9836|-0.9836	10|8	0.87932|0.02654	D|T	0|1	-18.9911|-18.9911	15.6803|15.6803	0.77364|0.77364	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	74;130;85;130;130|.	B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;ABI2_HUMAN;.|.	H|M	130;130;130;130;85;130;130|2	ENSP00000295851:L130H;ENSP00000261017:L130H;ENSP00000408898:L130H;ENSP00000391433:L130H;ENSP00000261016:L85H;ENSP00000414703:L130H;ENSP00000396249:L130H|ENSP00000413375:L2M	ENSP00000261016:L85H|ENSP00000413375:L2M	L|L	+|+	2|1	0|2	ABI2|ABI2	203953279|203953279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.047000|4.047000	0.57383|0.57383	2.115000|2.115000	0.64714|0.64714	0.482000|0.482000	0.46254|0.46254	CTT|TTG		0.318	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		6	102	0	0	0	1	0	6	102				
SSBP2	23635	broad.mit.edu	37	5	80724478	80724478	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80724478T>C	ENST00000320672.4	-	16	1192	c.982A>G	c.(982-984)Agt>Ggt	p.S328G	SSBP2_ENST00000515395.1_Missense_Mutation_p.S306G|SSBP2_ENST00000505980.1_Missense_Mutation_p.S308G|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000514493.1_Missense_Mutation_p.S298G|SSBP2_ENST00000509053.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	328					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GGTTGATTACTCAGGCTCATA	0.363																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(982-984)Agt>Ggt		single-stranded DNA binding protein 2							78.0	79.0	78.0					5																	80724478		2203	4299	6502	SO:0001583	missense	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80724478T>C	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.982A>G	5.37:g.80724478T>C	ENSP00000322977:p.Ser328Gly					SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Missense_Mutation_p.S306G|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000505980.1_Missense_Mutation_p.S308G|SSBP2_ENST00000514493.1_Missense_Mutation_p.S298G	p.S328G	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	16	1192	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	328					B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	c.982A>G	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610688	0.66558	.	.	ENSG00000145687	ENST00000320672;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395	.	.	.	5.65	5.65	0.86999	.	0.076218	0.85682	D	0.000000	T	0.57504	0.2058	L	0.52573	1.65	0.52501	D	0.999954	P;P;P;P;P	0.43477	0.599;0.462;0.599;0.62;0.808	B;P;B;B;P	0.45712	0.422;0.491;0.422;0.383;0.479	T	0.52939	-0.8508	9	0.18710	T	0.47	-14.1851	16.175	0.81844	0.0:0.0:0.0:1.0	.	306;308;281;306;328	E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	G	328;298;281;242;231;308;306	.	ENSP00000322977:S328G	S	-	1	0	SSBP2	80760234	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.626000	0.83164	2.274000	0.75844	0.528000	0.53228	AGT		0.363	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		3	62	0	0	0	1	0	3	62				
TRANK1	9881	broad.mit.edu	37	3	36897304	36897304	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36897304C>A	ENST00000429976.2	-	12	4024	c.3777G>T	c.(3775-3777)gaG>gaT	p.E1259D	TRANK1_ENST00000428977.2_Missense_Mutation_p.E709D|TRANK1_ENST00000301807.6_Missense_Mutation_p.E709D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1259							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTATCCTCCTCACTGTAGT	0.483																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(2125-2127)gaG>gaT		tetratricopeptide repeat and ankyrin repeat containing 1							201.0	206.0	204.0					3																	36897304		2089	4223	6312	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897304C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3777G>T	3.37:g.36897304C>A	ENSP00000416168:p.Glu1259Asp					TRANK1_ENST00000429976.2_Missense_Mutation_p.E1259D|TRANK1_ENST00000428977.2_Missense_Mutation_p.E709D	p.E709D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	4024	-			1259					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2127G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915126	0.17907	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34859	1.34;1.76;1.34	5.45	-0.603	0.11630	.	0.097038	0.45126	D	0.000399	T	0.15349	0.0370	N	0.13235	0.315	0.31656	N	0.646223	B	0.18863	0.031	B	0.22152	0.038	T	0.10451	-1.0629	10	0.22109	T	0.4	.	2.884	0.05656	0.1232:0.2942:0.1087:0.4739	.	1259	O15050	TRNK1_HUMAN	D	709;1259;709	ENSP00000416826:E709D;ENSP00000416168:E1259D;ENSP00000301807:E709D	ENSP00000301807:E709D	E	-	3	2	TRANK1	36872308	0.982000	0.34865	0.386000	0.26170	0.867000	0.49689	0.046000	0.14035	-0.342000	0.08363	-0.266000	0.10368	GAG		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		13	140	1	0	0.00010058	1	0.000111121	13	140				
USP9X	8239	broad.mit.edu	37	X	41075235	41075235	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41075235A>T	ENST00000324545.8	+	35	6048	c.5415A>T	c.(5413-5415)gaA>gaT	p.E1805D	USP9X_ENST00000378308.2_Missense_Mutation_p.E1805D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1805	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGACTGGGAAAGAGAATGTG	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5413-5415)gaA>gaT		ubiquitin specific peptidase 9, X-linked							94.0	89.0	91.0					X																	41075235		2094	4244	6338	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075235A>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5415A>T	X.37:g.41075235A>T	ENSP00000316357:p.Glu1805Asp					USP9X_ENST00000378308.2_Missense_Mutation_p.E1805D	p.E1805D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6048	+			1805					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5415A>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785664	0.70337	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.34072	1.38;1.38	5.67	4.48	0.54585	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	L	0.55103	1.725	0.53688	D	0.999974	D;D	0.76494	0.999;0.971	D;P	0.69142	0.962;0.889	T	0.36841	-0.9731	10	0.27785	T	0.31	.	10.9992	0.47596	0.9256:0.0:0.0744:0.0	.	1805;1805	Q93008-1;Q93008	.;USP9X_HUMAN	D	1805	ENSP00000367558:E1805D;ENSP00000316357:E1805D	ENSP00000316357:E1805D	E	+	3	2	USP9X	40960179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.707000	0.68370	0.748000	0.32831	0.486000	0.48141	GAA		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	88	0	0	0	1	0	5	88				
IL17RC	84818	broad.mit.edu	37	3	9960204	9960204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9960204G>A	ENST00000295981.3	+	5	807	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	IL17RC_ENST00000416074.2_Intron|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000403601.3_Missense_Mutation_p.V126M|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.V126M|IL17RC_ENST00000455057.1_Missense_Mutation_p.V126M|IL17RC_ENST00000383812.4_Missense_Mutation_p.V126M	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	197					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCCAAGTCGTGCTCTCCTT	0.642																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(589-591)Gtg>Atg		interleukin 17 receptor C							100.0	89.0	93.0					3																	9960204		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9960204G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.589G>A	3.37:g.9960204G>A	ENSP00000295981:p.Val197Met					IL17RC_ENST00000383812.4_Missense_Mutation_p.V126M|IL17RC_ENST00000455057.1_Missense_Mutation_p.V126M|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Missense_Mutation_p.V126M|IL17RC_ENST00000403601.3_Missense_Mutation_p.V126M|IL17RC_ENST00000498214.1_3'UTR	p.V197M	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			5	807	+			197					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.589G>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566922	0.65651	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.12	4.04	0.47022	.	0.277119	0.25275	N	0.031847	T	0.30885	0.0779	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.74023	0.982;0.945;0.945;0.947;0.947;0.982;0.945;0.968	T	0.01675	-1.1298	10	0.87932	D	0	-19.0978	9.4142	0.38512	0.1144:0.0:0.8856:0.0	.	126;126;126;126;126;126;197;126	Q8NAC3-4;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;I17RC_HUMAN;.	M	126;101;197;101;126;126;126	ENSP00000373323:V126M;ENSP00000414609:V101M;ENSP00000295981:V197M;ENSP00000401128:V101M;ENSP00000384969:V126M;ENSP00000407894:V126M;ENSP00000396064:V126M	ENSP00000295981:V197M	V	+	1	0	IL17RC	9935204	0.947000	0.32204	0.990000	0.47175	0.998000	0.95712	0.887000	0.28254	2.390000	0.81377	0.555000	0.69702	GTG		0.642	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		13	30	0	0	0	1	0	13	30				
FAT1	2195	broad.mit.edu	37	4	187557909	187557909	+	Missense_Mutation	SNP	G	G	A	rs564430066		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187557909G>A	ENST00000441802.2	-	5	4011	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1268	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCGGCTCCCGTCTGGCATTT	0.473										HNSCC(5;0.00058)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		15745	0.0		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3802-3804)Cgg>Tgg		FAT atypical cadherin 1							192.0	193.0	193.0					4																	187557909		1842	4095	5937	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557909G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3802C>T	4.37:g.187557909G>A	ENSP00000406229:p.Arg1268Trp	HNSCC(5;0.00058)					p.R1268W	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			5	4011	-			1268			Cadherin 11.			Missense_Mutation	SNP	ENST00000441802.2	37	c.3802C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	9.412	1.080709	0.20309	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.61274	0.12	5.04	4.18	0.49190	Cadherin (3);Cadherin-like (1);	0.055349	0.64402	D	0.000001	T	0.50633	0.1627	L	0.39633	1.23	0.58432	D	0.999998	P	0.45078	0.85	B	0.44163	0.443	T	0.48592	-0.9022	10	0.37606	T	0.19	.	11.7275	0.51718	0.0:0.0:0.5094:0.4906	.	1268	Q14517	FAT1_HUMAN	W	1268	ENSP00000406229:R1268W	ENSP00000260147:R1268W	R	-	1	2	FAT1	187794903	0.998000	0.40836	0.049000	0.19019	0.013000	0.08279	2.838000	0.48199	1.312000	0.45043	0.462000	0.41574	CGG		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		88	119	0	0	0	1	0	88	119				
PCBP3	54039	broad.mit.edu	37	21	47320530	47320530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47320530G>A	ENST00000400314.1	+	6	553	c.215G>A	c.(214-216)cGt>cAt	p.R72H	PCBP3_ENST00000400310.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400304.1_Missense_Mutation_p.R40H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R72H|PCBP3_ENST00000449640.1_Missense_Mutation_p.R72H			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	72	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAAGATGCGTGAGGAGGTG	0.607																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(214-216)cGt>cAt		poly(rC) binding protein 3							49.0	57.0	54.0					21																	47320530		1958	4136	6094	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47320530G>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.215G>A	21.37:g.47320530G>A	ENSP00000383168:p.Arg72His					PCBP3_ENST00000449640.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400310.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400304.1_Missense_Mutation_p.R40H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R72H	p.R72H			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	6	553	+	all_hematologic(128;0.24)		72			KH 1.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.215G>A	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	G	34	5.304703	0.95601	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.26	5.26	0.73747	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	H	0.97806	4.08	0.80722	D	1	B;D;D;D;P;D;P	0.89917	0.287;0.97;1.0;0.999;0.622;1.0;0.92	B;P;D;D;B;D;B	0.91635	0.219;0.474;0.999;0.997;0.185;0.997;0.253	D	0.85457	0.1164	10	0.87932	D	0	-12.7229	18.8526	0.92238	0.0:0.0:1.0:0.0	.	40;72;40;72;72;72;72	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	H	72;72;72;72;72;72;48;40	ENSP00000383168:R72H;ENSP00000383165:R72H;ENSP00000383164:R72H;ENSP00000383163:R72H;ENSP00000401198:R72H;ENSP00000383160:R48H;ENSP00000383159:R40H	ENSP00000330225:R72H	R	+	2	0	PCBP3	46144958	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.860000	0.92272	2.638000	0.89438	0.655000	0.94253	CGT		0.607	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			15	30	0	0	0	1	0	15	30				
OGDHL	55753	broad.mit.edu	37	10	50966452	50966452	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50966452G>T	ENST00000374103.4	-	2	272	c.187C>A	c.(187-189)Ccc>Acc	p.P63T	OGDHL_ENST00000419399.1_Missense_Mutation_p.P63T|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	63					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACTCTGGGGGTTTTCCAAC	0.662																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(187-189)Ccc>Acc		oxoglutarate dehydrogenase-like							70.0	73.0	72.0					10																	50966452		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50966452G>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.187C>A	10.37:g.50966452G>T	ENSP00000363216:p.Pro63Thr					OGDHL_ENST00000419399.1_Missense_Mutation_p.P63T|OGDHL_ENST00000432695.1_Intron	p.P63T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			2	272	-			63					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.187C>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481693	0.63849	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.39406	1.08;3.35	5.91	5.91	0.95273	.	0.114428	0.64402	D	0.000011	T	0.64972	0.2647	M	0.71871	2.18	0.80722	D	1	P;D	0.71674	0.578;0.998	B;D	0.71414	0.431;0.973	T	0.66264	-0.5967	10	0.87932	D	0	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	63;63	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	T	63	ENSP00000363216:P63T;ENSP00000401356:P63T	ENSP00000363216:P63T	P	-	1	0	OGDHL	50636458	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.594000	0.90836	2.793000	0.96121	0.655000	0.94253	CCC		0.662	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		9	103	1	0	4.68919e-08	1	5.58064e-08	9	103				
FFAR4	338557	broad.mit.edu	37	10	95326896	95326896	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95326896T>C	ENST00000371483.4	+	1	475	c.419T>C	c.(418-420)aTc>aCc	p.I140T	FFAR4_ENST00000604414.1_Missense_Mutation_p.I140T|FFAR4_ENST00000371481.4_Missense_Mutation_p.I140T	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	140					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										ATGGTGTGCATCGTGCACCTG	0.711																																						ENST00000371483.4																			0											c.(418-420)aTc>aCc		free fatty acid receptor 4							18.0	18.0	18.0					10																	95326896		2199	4286	6485	SO:0001583	missense	338557							g.chr10:95326896T>C		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.419T>C	10.37:g.95326896T>C	ENSP00000360538:p.Ile140Thr					FFAR4_ENST00000604414.1_Missense_Mutation_p.I140T|FFAR4_ENST00000371481.4_Missense_Mutation_p.I140T	p.I140T	NM_181745.3	NP_859529.2					1	475	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.419T>C	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556502	0.86231	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	D;D	0.82081	-1.57;-1.57	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.91199	0.7227	M	0.82517	2.595	0.48632	D	0.999684	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	D	0.91889	0.5522	10	0.52906	T	0.07	-36.2188	15.2726	0.73717	0.0:0.0:0.0:1.0	.	140;140	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	T	140	ENSP00000360536:I140T;ENSP00000360538:I140T	ENSP00000360536:I140T	I	+	2	0	O3FAR1	95316886	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.808000	0.75206	2.192000	0.70111	0.459000	0.35465	ATC		0.711	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		8	9	0	0	0	1	0	8	9				
LEMD3	23592	broad.mit.edu	37	12	65564502	65564502	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65564502G>T	ENST00000308330.2	+	1	1152	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	376					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACTGACATGGACTCAACCTT	0.527																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1126-1128)Gac>Tac		LEM domain containing 3							76.0	80.0	79.0					12																	65564502		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564502G>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1126G>T	12.37:g.65564502G>T	ENSP00000308369:p.Asp376Tyr					LEMD3_ENST00000541171.1_Intron	p.D376Y	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	1152	+			376					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1126G>T	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161709	0.57368	.	.	ENSG00000174106	ENST00000308330	T	0.53640	0.61	3.96	3.96	0.45880	.	0.164121	0.37955	N	0.001862	T	0.48077	0.1480	N	0.19112	0.55	0.46542	D	0.999097	D	0.76494	0.999	D	0.65573	0.936	T	0.34354	-0.9832	9	.	.	.	-18.2912	11.5456	0.50693	0.0906:0.0:0.9094:0.0	.	376	Q9Y2U8	MAN1_HUMAN	Y	376	ENSP00000308369:D376Y	.	D	+	1	0	LEMD3	63850769	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	4.255000	0.58804	2.499000	0.84300	0.462000	0.41574	GAC		0.527	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			15	32	1	0	6.72482e-11	1	8.32712e-11	15	32				
PCDH11X	27328	broad.mit.edu	37	X	91134164	91134164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91134164T>C	ENST00000373094.1	+	2	3770	c.2925T>C	c.(2923-2925)tgT>tgC	p.C975C	PCDH11X_ENST00000373088.1_Silent_p.C975C|PCDH11X_ENST00000406881.1_Silent_p.C975C|PCDH11X_ENST00000373097.1_Silent_p.C975C|PCDH11X_ENST00000361724.1_Silent_p.C975C|PCDH11X_ENST00000361655.2_Silent_p.C975C|PCDH11X_ENST00000298274.8_Silent_p.C975C|PCDH11X_ENST00000395337.2_Silent_p.C975C|PCDH11X_ENST00000504220.2_Silent_p.C975C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	975					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTGGCCTGTGACTCTATCT	0.512																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2923-2925)tgT>tgC		protocadherin 11 X-linked							265.0	205.0	226.0					X																	91134164		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134164T>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2925T>C	X.37:g.91134164T>C						PCDH11X_ENST00000373097.1_Silent_p.C975C|PCDH11X_ENST00000395337.2_Silent_p.C975C|PCDH11X_ENST00000406881.1_Silent_p.C975C|PCDH11X_ENST00000361724.1_Silent_p.C975C|PCDH11X_ENST00000504220.1_Silent_p.C975C|PCDH11X_ENST00000298274.8_Silent_p.C975C|PCDH11X_ENST00000361655.2_Silent_p.C975C|PCDH11X_ENST00000373088.1_Silent_p.C975C	p.C975C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3770	+			975					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2925T>C	CCDS14461.1																																																																																				0.512	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		35	125	0	0	0	1	0	35	125				
CEBPZ	10153	broad.mit.edu	37	2	37454686	37454686	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37454686C>T	ENST00000234170.5	-	2	1795		c.e2+1			NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATGTTCTTACCTGTATAATG	0.363																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.e2+1		CCAAT/enhancer binding protein (C/EBP), zeta							92.0	96.0	95.0					2																	37454686		2203	4300	6503	SO:0001630	splice_region_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454686C>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1649+1G>A	2.37:g.37454686C>T								NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1795	-		all_hematologic(82;0.21)						Q8NE75	Splice_Site	SNP	ENST00000234170.5	37		CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674187	0.67928	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEBPZ	37308190	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.398000	0.79919	2.694000	0.91930	0.585000	0.79938	.		0.363	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760	Intron	41	78	0	0	0	1	0	41	78				
MYH1	4619	broad.mit.edu	37	17	10402092	10402092	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10402092A>G	ENST00000226207.5	-	30	4126	c.4032T>C	c.(4030-4032)tgT>tgC	p.C1344C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1344					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGCAGGTCACAGTCATGGC	0.512																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4030-4032)tgT>tgC		myosin, heavy chain 1, skeletal muscle, adult							115.0	104.0	108.0					17																	10402092		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402092A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4032T>C	17.37:g.10402092A>G						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.C1344C	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			30	4126	-			1344					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.4032T>C	CCDS11155.1																																																																																				0.512	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		10	55	0	0	0	1	0	10	55				
TOP2B	7155	broad.mit.edu	37	3	25665884	25665884	+	Missense_Mutation	SNP	T	T	C	rs368712197		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25665884T>C	ENST00000264331.4	-	20	2398	c.2399A>G	c.(2398-2400)aAc>aGc	p.N800S	TOP2B_ENST00000435706.2_Missense_Mutation_p.N795S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	800					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GTTAATGTTGTTACTTCCCAC	0.373																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(2383-2385)aAc>aGc		topoisomerase (DNA) II beta 180kDa		T	SER/ASN	0,3834		0,0,1917	149.0	145.0	146.0		2384	5.6	1.0	3		146	1,8283		0,1,4141	no	missense	TOP2B	NM_001068.2	46	0,1,6058	CC,CT,TT		0.0121,0.0,0.0083	probably-damaging	795/1622	25665884	1,12117	1917	4142	6059	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25665884T>C	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2399A>G	3.37:g.25665884T>C	ENSP00000264331:p.Asn800Ser					TOP2B_ENST00000264331.4_Missense_Mutation_p.N800S	p.N795S			Q02880	TOP2B_HUMAN			20	2585	-			800					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2384A>G		.	.	.	.	.	.	.	.	.	.	T	28.2	4.898430	0.91962	0.0	1.21E-4	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.50813	0.73;0.73	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77590	-0.2531	10	0.87932	D	0	-6.3056	16.1169	0.81309	0.0:0.0:0.0:1.0	.	795	Q02880-2	.	S	795;800;795	ENSP00000396704:N795S;ENSP00000264331:N800S	ENSP00000264331:N800S	N	-	2	0	TOP2B	25640888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.960000	0.87893	2.263000	0.75096	0.528000	0.53228	AAC		0.373	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				48	64	0	0	0	1	0	48	64				
RSG1	79363	broad.mit.edu	37	1	16558674	16558674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16558674G>A	ENST00000375599.3	-	5	1065	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	216	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TCCAGTGTGCGCCCATCAGCC	0.706																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(646-648)Cgc>Tgc		REM2 and RAB-like small GTPase 1							28.0	32.0	30.0					1																	16558674		2203	4299	6502	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16558674G>A	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.646C>T	1.37:g.16558674G>A	ENSP00000364749:p.Arg216Cys						p.R216C	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			5	1065	-			216			Small GTPase-like.		Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.646C>T	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717682	0.48622	.	.	ENSG00000132881	ENST00000375599	T	0.56776	0.44	5.47	4.56	0.56223	.	0.326617	0.28901	N	0.013761	T	0.39517	0.1081	L	0.27053	0.805	0.46478	D	0.999064	B	0.11235	0.004	B	0.04013	0.001	T	0.17319	-1.0373	10	0.38643	T	0.18	-12.7996	12.3381	0.55079	0.0819:0.0:0.9181:0.0	.	216	Q9BU20	RSG1_HUMAN	C	216	ENSP00000364749:R216C	ENSP00000364749:R216C	R	-	1	0	RSG1	16431261	0.953000	0.32496	1.000000	0.80357	0.994000	0.84299	2.086000	0.41643	1.312000	0.45043	-0.122000	0.15005	CGC		0.706	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		12	21	0	0	0	1	0	12	21				
ZNF518B	85460	broad.mit.edu	37	4	10446802	10446802	+	Missense_Mutation	SNP	C	C	T	rs539743566		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446802C>T	ENST00000326756.3	-	3	1589	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	384					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTCACCATACGTTCAGAATT	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21528	0.0		0.0	False		,,,				2504	0.0					ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(1150-1152)cGt>cAt		zinc finger protein 518B							187.0	190.0	189.0					4																	10446802		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446802C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1151G>A	4.37:g.10446802C>T	ENSP00000317614:p.Arg384His						p.R384H	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1589	-			384					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1151G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497881	0.26861	.	.	ENSG00000178163	ENST00000326756	T	0.01572	4.76	5.8	-11.6	0.00059	.	1.297380	0.05234	N	0.510885	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42068	-0.9473	10	0.27082	T	0.32	0.0095	2.7757	0.05347	0.1767:0.1032:0.2546:0.4655	.	384	Q9C0D4	Z518B_HUMAN	H	384	ENSP00000317614:R384H	ENSP00000317614:R384H	R	-	2	0	ZNF518B	10055900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.991000	0.00657	-3.461000	0.00159	-0.812000	0.03155	CGT		0.413	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		81	167	0	0	0	1	0	81	167				
ANXA3	306	broad.mit.edu	37	4	79522708	79522708	+	Missense_Mutation	SNP	C	C	T	rs376086128		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79522708C>T	ENST00000264908.6	+	11	1154	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ANXA3_ENST00000503570.2_Missense_Mutation_p.H220Y|ANXA3_ENST00000512884.1_Missense_Mutation_p.H220Y	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	259					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGAAAGACTGCATCGAGCCTT	0.383																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(775-777)Cat>Tat		annexin A3							133.0	124.0	127.0					4																	79522708		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79522708C>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.775C>T	4.37:g.79522708C>T	ENSP00000264908:p.His259Tyr					ANXA3_ENST00000512884.1_Missense_Mutation_p.H220Y|ANXA3_ENST00000503570.2_Missense_Mutation_p.H220Y	p.H259Y	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			11	1154	+			259					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.775C>T	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.484694	0.01027	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.03553	3.89;3.89;3.89	5.21	3.48	0.39840	.	0.365970	0.29924	N	0.010845	T	0.01730	0.0055	N	0.11284	0.12	0.51012	D	0.999906	B	0.02656	0.0	B	0.04013	0.001	T	0.40496	-0.9560	10	0.02654	T	1	.	6.6884	0.23158	0.1439:0.6984:0.0:0.1577	.	259	P12429	ANXA3_HUMAN	Y	259;220;220	ENSP00000264908:H259Y;ENSP00000423068:H220Y;ENSP00000421015:H220Y	ENSP00000264908:H259Y	H	+	1	0	ANXA3	79741732	0.723000	0.28027	0.538000	0.28064	0.474000	0.32979	0.127000	0.15790	0.764000	0.33197	0.585000	0.79938	CAT		0.383	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		20	38	0	0	0	1	0	20	38				
FAF1	11124	broad.mit.edu	37	1	51061795	51061795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51061795C>T	ENST00000396153.2	-	9	1289	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FAF1_ENST00000371778.4_Missense_Mutation_p.E280K|FAF1_ENST00000545823.1_Missense_Mutation_p.E38K|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	280					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGGCTTACTTCTTCCGACTGT	0.488																																						ENST00000396153.2																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(838-840)Gaa>Aaa		Fas (TNFRSF6) associated factor 1							83.0	88.0	87.0					1																	51061795		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51061795C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.838G>A	1.37:g.51061795C>T	ENSP00000379457:p.Glu280Lys					FAF1_ENST00000545823.1_Missense_Mutation_p.E38K|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.E280K	p.E280K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	9	1289	-			280					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.838G>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273601	0.23221	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823	T;T	0.29917	1.55;1.55	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.47716	1.5	0.54753	D	0.999984	B;B	0.20368	0.044;0.044	B;B	0.19148	0.022;0.024	T	0.06092	-1.0846	10	0.09843	T	0.71	-35.4436	14.2068	0.65739	0.0:0.8512:0.1488:0.0	.	38;280	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	K	280;280;38	ENSP00000379457:E280K;ENSP00000360843:E280K	ENSP00000360843:E280K	E	-	1	0	FAF1	50834383	1.000000	0.71417	0.998000	0.56505	0.295000	0.27426	3.699000	0.54778	2.603000	0.88011	0.655000	0.94253	GAA		0.488	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		16	13	0	0	0	1	0	16	13				
C11orf63	79864	broad.mit.edu	37	11	122828104	122828104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122828104A>G	ENST00000531316.1	+	7	2136	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	C11orf63_ENST00000227349.2_Missense_Mutation_p.K682E			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	682					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAATATGCAAAACAAGTCAA	0.373																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2044-2046)Aaa>Gaa		chromosome 11 open reading frame 63							125.0	112.0	116.0					11																	122828104		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122828104A>G	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.2044A>G	11.37:g.122828104A>G	ENSP00000431669:p.Lys682Glu					C11orf63_ENST00000531316.1_Missense_Mutation_p.K682E	p.K682E	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	8	2341	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	682					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.2044A>G	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366602	0.41902	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.47528	0.84;0.84	5.71	1.92	0.25849	.	0.719888	0.13169	N	0.408464	T	0.45577	0.1349	L	0.56769	1.78	0.09310	N	1	P	0.42296	0.775	B	0.41412	0.356	T	0.25082	-1.0142	10	0.22109	T	0.4	-3.7062	14.0048	0.64456	0.4961:0.5039:0.0:0.0	.	682	Q6NUN7	CK063_HUMAN	E	682	ENSP00000227349:K682E;ENSP00000431669:K682E	ENSP00000227349:K682E	K	+	1	0	C11orf63	122333314	0.862000	0.29867	0.000000	0.03702	0.549000	0.35272	0.997000	0.29731	0.061000	0.16311	0.460000	0.39030	AAA		0.373	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		7	98	0	0	0	1	0	7	98				
CLCNKB	1188	broad.mit.edu	37	1	16374441	16374441	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374441G>A	ENST00000375679.4	+	5	511	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	134					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGGTGTGGTCTTGGAGGA	0.582																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(400-402)Gtc>Atc		chloride channel, voltage-sensitive Kb							111.0	113.0	112.0					1																	16374441		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16374441G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.400G>A	1.37:g.16374441G>A	ENSP00000364831:p.Val134Ile						p.V134I	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	511	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.400G>A	CCDS168.1	.	.	.	.	.	.	.	.	.	.	g	3.356	-0.131434	0.06753	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.94232	-3.38	3.71	-0.488	0.12056	Chloride channel, core (2);	0.767555	0.12207	N	0.489688	D	0.84160	0.5411	N	0.12831	0.26	0.58432	D	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.71031	-0.4710	10	0.44086	T	0.13	.	8.3095	0.32062	0.3576:0.0:0.6424:0.0	.	134	P51801	CLCKB_HUMAN	I	134	ENSP00000364831:V134I	ENSP00000332055:V134I	V	+	1	0	CLCNKB	16247028	0.368000	0.25031	0.008000	0.14137	0.017000	0.09413	0.074000	0.14662	-0.023000	0.13963	-0.244000	0.11960	GTC		0.582	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		33	33	0	0	0	1	0	33	33				
CYFIP2	26999	broad.mit.edu	37	5	156750996	156750996	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156750996G>T	ENST00000521420.1	+	15	1752	c.1661G>T	c.(1660-1662)aGg>aTg	p.R554M	CYFIP2_ENST00000377576.3_Missense_Mutation_p.R580M|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R384M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R505M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R279M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R580M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R605M|CYFIP2_ENST00000442283.2_5'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGACCCTGAGGAGCAGCCTG	0.493																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1738-1740)aGg>aTg		cytoplasmic FMR1 interacting protein 2							66.0	65.0	65.0					5																	156750996		1961	4151	6112	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156750996G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1661G>T	5.37:g.156750996G>T	ENSP00000430904:p.Arg554Met					CYFIP2_ENST00000541131.1_Missense_Mutation_p.R505M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R384M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R279M|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R554M|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R580M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R605M	p.R580M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		16	2170	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	605						Missense_Mutation	SNP	ENST00000521420.1	37	c.1739G>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.340684	0.81911	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.91	5.04	0.67666	.	0.085998	0.85682	D	0.000000	T	0.53916	0.1826	M	0.84683	2.71	0.80722	D	1	D;B;B;D;P;P	0.71674	0.998;0.416;0.282;0.995;0.624;0.938	D;P;B;P;B;P	0.67231	0.95;0.491;0.243;0.853;0.341;0.596	T	0.61237	-0.7103	10	0.54805	T	0.06	-21.9939	14.9332	0.70933	0.0682:0.0:0.9318:0.0	.	444;384;554;580;580;605	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	605;384;554;580;580;505;279	ENSP00000325817:R605M;ENSP00000428009:R384M;ENSP00000430904:R554M;ENSP00000313567:R580M;ENSP00000366799:R580M;ENSP00000444645:R505M;ENSP00000403793:R279M	ENSP00000325817:R605M	R	+	2	0	CYFIP2	156683574	1.000000	0.71417	0.017000	0.16124	0.899000	0.52679	9.814000	0.99346	1.522000	0.49001	0.655000	0.94253	AGG		0.493	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		6	8	1	0	5.18039e-06	1	5.91835e-06	6	8				
DNM3	26052	broad.mit.edu	37	1	172348281	172348281	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172348281G>T	ENST00000355305.5	+	18	2192	c.2035G>T	c.(2035-2037)Gat>Tat	p.D679Y	DNM3_ENST00000367731.1_Missense_Mutation_p.D669Y|DNM3_ENST00000358155.4_Missense_Mutation_p.D673Y			Q9UQ16	DYN3_HUMAN	dynamin 3	679	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGTATCCGAGATCTAATTCC	0.398																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2017-2019)Gat>Tat		dynamin 3							76.0	75.0	76.0					1																	172348281		1997	4198	6195	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172348281G>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2035G>T	1.37:g.172348281G>T	ENSP00000347457:p.Asp679Tyr					DNM3_ENST00000367731.1_Missense_Mutation_p.D669Y|DNM3_ENST00000355305.5_Missense_Mutation_p.D679Y	p.D673Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			18	2193	+			679			GED.		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.2017G>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.177676	0.78564	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.43	5.43	0.79202	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	D	0.85982	0.5824	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.991	D	0.91038	0.4869	10	0.87932	D	0	.	17.8216	0.88652	0.0:0.0:1.0:0.0	.	679;669;673	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	Y	683;673;679;669;42	ENSP00000350876:D673Y;ENSP00000347457:D679Y;ENSP00000356705:D669Y;ENSP00000429165:D42Y	ENSP00000347457:D679Y	D	+	1	0	DNM3	170614904	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	9.809000	0.99208	2.552000	0.86080	0.650000	0.86243	GAT		0.398	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		5	31	1	0	1.23904e-05	1	1.39987e-05	5	31				
NUP98	4928	broad.mit.edu	37	11	3720329	3720329	+	Missense_Mutation	SNP	G	G	T	rs144357388		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3720329G>T	ENST00000324932.7	-	25	4412	c.3992C>A	c.(3991-3993)tCt>tAt	p.S1331Y	NUP98_ENST00000359171.4_Missense_Mutation_p.S1331Y|NUP98_ENST00000355260.3_Missense_Mutation_p.S1331Y|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1348					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGGGCCAGAGAGCAGGCCTC	0.542			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3991-3993)tCt>tAt		nucleoporin 98kDa							157.0	153.0	155.0					11																	3720329		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720329G>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3992C>A	11.37:g.3720329G>T	ENSP00000316032:p.Ser1331Tyr					NUP98_ENST00000359171.4_Missense_Mutation_p.S1331Y|NUP98_ENST00000355260.3_Missense_Mutation_p.S1331Y	p.S1331Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4412	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1348					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.3992C>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432958	0.62844	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.66	3.76	0.43208	.	0.614723	0.17183	N	0.183819	T	0.49081	0.1536	L	0.42245	1.32	0.09310	N	1	D;P;P	0.61080	0.989;0.824;0.786	P;B;B	0.53649	0.731;0.442;0.342	T	0.45101	-0.9284	9	0.72032	D	0.01	-4.4865	15.0135	0.71567	0.0:0.689:0.311:0.0	.	1331;1331;1245	P52948-2;P52948-5;P52948-6	.;.;.	Y	1331	.	ENSP00000316032:S1331Y	S	-	2	0	NUP98	3676905	0.957000	0.32711	0.993000	0.49108	0.998000	0.95712	1.832000	0.39151	0.831000	0.34780	0.655000	0.94253	TCT		0.542	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		7	199	1	0	2.7689e-08	1	3.31013e-08	7	199				
LAT	27040	broad.mit.edu	37	16	28997063	28997063	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28997063T>C	ENST00000360872.5	+	2	206		c.e2+2		LAT_ENST00000564277.1_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000563964.1_Splice_Site|LAT_ENST00000395461.3_Splice_Site|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000395456.2_Splice_Site			O43561	LAT_HUMAN	linker for activation of T cells						blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTCAGATAGGTGAGTCCGCCC	0.647																																						ENST00000395456.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.e2+2		linker for activation of T cells							120.0	136.0	131.0					16																	28997063		2197	4300	6497	SO:0001630	splice_region_variant	0				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28997063T>C	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.128+2T>C	16.37:g.28997063T>C						LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000360872.5_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000563964.1_Splice_Site|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000395461.3_Splice_Site		NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN			2	450	+		Hepatocellular(780;0.244)						B7WPI0|C7C5T6|G5E9K3|O43919	Splice_Site	SNP	ENST00000360872.5	37		CCDS10647.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.263192	0.39995	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.387	0.44145	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAT	28904564	1.000000	0.71417	0.988000	0.46212	0.071000	0.16799	2.305000	0.43664	1.784000	0.52394	0.379000	0.24179	.		0.647	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2		Intron	74	103	0	0	0	1	0	74	103				
FBN3	84467	broad.mit.edu	37	19	8201322	8201322	+	Missense_Mutation	SNP	C	C	T	rs142403623		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8201322C>T	ENST00000600128.1	-	11	1709	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	FBN3_ENST00000601739.1_Missense_Mutation_p.R432H|FBN3_ENST00000270509.2_Missense_Mutation_p.R432H			Q75N90	FBN3_HUMAN	fibrillin 3	432	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACACTCGCAGCGGTAGCTGGA	0.642																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1294-1296)cGc>cAc		fibrillin 3		C	HIS/ARG	0,4406		0,0,2203	97.0	86.0	90.0		1295	0.1	1.0	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN3	NM_032447.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	432/2810	8201322	1,13005	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201322C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1295G>A	19.37:g.8201322C>T	ENSP00000470498:p.Arg432His					FBN3_ENST00000270509.2_Missense_Mutation_p.R432H|FBN3_ENST00000601739.1_Missense_Mutation_p.R432H	p.R432H			Q75N90	FBN3_HUMAN			11	1709	-			432			EGF-like 3.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1295G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	18.21	3.573708	0.65765	0.0	1.16E-4	ENSG00000142449	ENST00000270509	D	0.92397	-3.03	4.4	0.0577	0.14324	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.069276	0.64402	N	0.000015	D	0.86041	0.5838	L	0.42008	1.315	0.32161	N	0.582978	B	0.29886	0.26	B	0.28849	0.095	T	0.80407	-0.1395	10	0.41790	T	0.15	.	8.9866	0.35997	0.0:0.713:0.0:0.287	.	432	Q75N90	FBN3_HUMAN	H	432	ENSP00000270509:R432H	ENSP00000270509:R432H	R	-	2	0	FBN3	8107322	1.000000	0.71417	0.996000	0.52242	0.365000	0.29674	1.358000	0.34102	-0.077000	0.12752	0.462000	0.41574	CGC		0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		30	47	0	0	0	1	0	30	47				
SORBS2	8470	broad.mit.edu	37	4	186573858	186573858	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186573858A>G	ENST00000284776.7	-	7	801	c.292T>C	c.(292-294)Tac>Cac	p.Y98H	SORBS2_ENST00000437304.2_Missense_Mutation_p.Y277H|SORBS2_ENST00000448662.2_Missense_Mutation_p.Y167H|SORBS2_ENST00000319471.9_Missense_Mutation_p.Y184H|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y17H|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y198H|SORBS2_ENST00000431808.1_Missense_Mutation_p.Y98H|SORBS2_ENST00000449407.2_Missense_Mutation_p.Y184H|SORBS2_ENST00000393528.3_Missense_Mutation_p.Y144H|SORBS2_ENST00000498125.1_5'UTR	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	98	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATCGTCTTGTACCAGTCCTTG	0.473																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(292-294)Tac>Cac		sorbin and SH3 domain containing 2							245.0	189.0	208.0					4																	186573858		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186573858A>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.292T>C	4.37:g.186573858A>G	ENSP00000284776:p.Tyr98His					SORBS2_ENST00000418609.1_Missense_Mutation_p.Y17H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.Y184H|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y98H|SORBS2_ENST00000393528.3_Missense_Mutation_p.Y144H|SORBS2_ENST00000449407.2_Missense_Mutation_p.Y184H|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y198H|SORBS2_ENST00000437304.2_Missense_Mutation_p.Y277H|SORBS2_ENST00000448662.2_Missense_Mutation_p.Y167H	p.Y98H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	8	855	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	98			SoHo.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.292T>C	CCDS3845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.0|29.0	4.970747|4.970747	0.92919|0.92919	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000438278|ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000445343	.|T;T;T;T;T;T;T;T;T;T	.|0.70282	.|1.59;1.59;1.59;-0.47;1.59;1.59;1.31;1.59;1.59;1.59	5.16|5.16	5.16|5.16	0.70880|0.70880	.|Sorbin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83055|0.83055	0.5171|0.5171	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.998;0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999;0.998;1.0;0.999;0.999;0.999	D|D	0.85220|0.85220	0.1026|0.1026	5|10	.|0.87932	.|D	.|0	-19.1114|-19.1114	15.462|15.462	0.75366|0.75366	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|161;144;167;17;17;17;17;144;198;98;184;277;167;144;98;144	.|B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-6;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.|.;.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	A|H	41|98;167;98;17;277;184;184;198;144;144;98	.|ENSP00000284776:Y98H;ENSP00000409158:Y167H;ENSP00000411764:Y98H;ENSP00000397482:Y17H;ENSP00000396008:Y277H;ENSP00000322182:Y184H;ENSP00000397262:Y184H;ENSP00000347852:Y198H;ENSP00000377162:Y144H;ENSP00000321983:Y144H	.|ENSP00000284776:Y98H	V|Y	-|-	2|1	0|0	SORBS2|SORBS2	186810852|186810852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.709000|8.709000	0.91379|0.91379	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	GTA|TAC		0.473	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	61	0	0	0	1	0	5	61				
PLXND1	23129	broad.mit.edu	37	3	129289894	129289894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129289894G>T	ENST00000324093.4	-	18	3767	c.3589C>A	c.(3589-3591)Ctc>Atc	p.L1197I	PLXND1_ENST00000393239.1_Missense_Mutation_p.L1197I	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1197					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGATAACGAGGGTGAGAGGC	0.662																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3589-3591)Ctc>Atc		plexin D1							113.0	127.0	122.0					3																	129289894		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289894G>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3589C>A	3.37:g.129289894G>T	ENSP00000317128:p.Leu1197Ile					PLXND1_ENST00000324093.4_Missense_Mutation_p.L1197I	p.L1197I			Q9Y4D7	PLXD1_HUMAN			18	3767	-			1197					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3589C>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626472	0.46840	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.39787	1.12;1.06	5.08	3.29	0.37713	.	0.200631	0.33075	N	0.005315	T	0.34658	0.0905	L	0.52364	1.645	0.54753	D	0.999987	P	0.36048	0.534	B	0.32864	0.154	T	0.10314	-1.0635	10	0.46703	T	0.11	.	11.014	0.47679	0.151:0.0:0.8489:0.0	.	1197	Q9Y4D7	PLXD1_HUMAN	I	1197	ENSP00000317128:L1197I;ENSP00000376931:L1197I	ENSP00000317128:L1197I	L	-	1	0	PLXND1	130772584	1.000000	0.71417	0.997000	0.53966	0.335000	0.28730	6.127000	0.71642	0.557000	0.29117	0.491000	0.48974	CTC		0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		14	185	1	0	0.000151284	1	0.000166931	14	185				
RAB11FIP5	26056	broad.mit.edu	37	2	73316066	73316066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316066G>T	ENST00000258098.6	-	2	1049	c.809C>A	c.(808-810)cCt>cAt	p.P270H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	270					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTCGGCGCCAGGTCCCTGGTA	0.682																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(808-810)cCt>cAt		RAB11 family interacting protein 5 (class I)							33.0	32.0	32.0					2																	73316066		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316066G>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.809C>A	2.37:g.73316066G>T	ENSP00000258098:p.Pro270His					RAB11FIP5_ENST00000493523.2_5'UTR	p.P270H	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	1049	-			270					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.809C>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699925	0.48307	.	.	ENSG00000135631	ENST00000258098	T	0.51574	0.7	5.36	4.26	0.50523	.	0.167607	0.39687	N	0.001292	T	0.48429	0.1499	L	0.29908	0.895	0.22728	N	0.998802	D;D	0.71674	0.983;0.998	P;P	0.59703	0.533;0.862	T	0.30119	-0.9989	10	0.28530	T	0.3	-14.8938	11.4951	0.50404	0.1229:0.0:0.8771:0.0	.	270;270	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	H	270	ENSP00000258098:P270H	ENSP00000258098:P270H	P	-	2	0	RAB11FIP5	73169574	0.640000	0.27243	0.630000	0.29268	0.383000	0.30230	1.551000	0.36233	2.688000	0.91661	0.561000	0.74099	CCT		0.682	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		13	17	1	0	0.00185496	1	0.00197886	13	17				
IST1	9798	broad.mit.edu	37	16	71949616	71949616	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71949616T>C	ENST00000378799.6	+	2	429	c.73T>C	c.(73-75)Ttg>Ctg	p.L25L	IST1_ENST00000544564.1_Silent_p.L25L|IST1_ENST00000535424.1_Silent_p.L38L|IST1_ENST00000606369.1_Intron|IST1_ENST00000538850.1_Intron|IST1_ENST00000329908.8_Silent_p.L25L|IST1_ENST00000541571.2_Silent_p.L25L|IST1_ENST00000538565.1_Intron|IST1_ENST00000378798.5_Silent_p.L25L			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	25	Interaction with CHMP1A and CHMP1B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										CCTTAAACTATTGGAGAAAAA	0.403																																						ENST00000378799.6																			0											c.(73-75)Ttg>Ctg		increased sodium tolerance 1 homolog (yeast)							86.0	85.0	85.0					16																	71949616		2198	4300	6498	SO:0001819	synonymous_variant	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71949616T>C	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.73T>C	16.37:g.71949616T>C						IST1_ENST00000535424.1_Silent_p.L38L|IST1_ENST00000538565.1_Intron|IST1_ENST00000544564.1_Silent_p.L25L|RP11-498D10.4_ENST00000568581.1_Silent_p.L25L|IST1_ENST00000329908.8_Silent_p.L25L|IST1_ENST00000606369.1_Intron|IST1_ENST00000538850.1_Intron|IST1_ENST00000541571.2_Silent_p.L25L|IST1_ENST00000378798.5_Silent_p.L25L	p.L25L	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN			2	429	+			25			Interaction with CHMP1A and CHMP1B.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	c.73T>C	CCDS59272.1																																																																																				0.403	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		27	48	0	0	0	1	0	27	48				
LGSN	51557	broad.mit.edu	37	6	63990679	63990679	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:63990679G>T	ENST00000370657.4	-	4	810	c.777C>A	c.(775-777)tcC>tcA	p.S259S	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	259					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCTGGTAGAGGAGGAAAAAC	0.438																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(775-777)tcC>tcA		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						45.0	41.0	42.0					6																	63990679		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990679G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.777C>A	6.37:g.63990679G>T						LGSN_ENST00000370658.5_Intron	p.S259S			Q5TDP6	LGSN_HUMAN			4	810	-			259					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.777C>A	CCDS4964.1																																																																																				0.438	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		5	31	1	0	0.000602214	1	0.000649039	5	31				
WDR49	151790	broad.mit.edu	37	3	167245747	167245747	+	Missense_Mutation	SNP	G	G	A	rs193921101		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245747G>A	ENST00000308378.3	-	11	1714	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR49_ENST00000476376.1_Missense_Mutation_p.S295L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	470										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGTTGGAATGATCTTATCAG	0.403																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1408-1410)tCa>tTa		WD repeat domain 49							170.0	157.0	161.0					3																	167245747		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167245747G>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1409C>T	3.37:g.167245747G>A	ENSP00000311343:p.Ser470Leu					WDR49_ENST00000476376.1_Missense_Mutation_p.S295L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	p.S470L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			11	1714	-			470					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1409C>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694075	0.48202	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.35973	1.55;1.28	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.363418	0.29987	N	0.010682	T	0.59418	0.2192	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.58847	-0.7564	10	0.48119	T	0.1	.	16.2509	0.82485	0.0:0.0:1.0:0.0	.	470	Q8IV35	WDR49_HUMAN	L	470;295	ENSP00000311343:S470L;ENSP00000420508:S295L	ENSP00000311343:S470L	S	-	2	0	WDR49	168728441	0.997000	0.39634	0.039000	0.18376	0.019000	0.09904	2.778000	0.47726	2.577000	0.86979	0.544000	0.68410	TCA		0.403	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		8	57	0	0	0	1	0	8	57				
CCT8L2	150160	broad.mit.edu	37	22	17073125	17073125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17073125C>A	ENST00000359963.3	-	1	575	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	106					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCACGAAGGCTGTGCCGTCC	0.662																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(316-318)Gcc>Tcc		chaperonin containing TCP1, subunit 8 (theta)-like 2							77.0	60.0	66.0					22																	17073125		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073125C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.316G>T	22.37:g.17073125C>A	ENSP00000353048:p.Ala106Ser						p.A106S	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	575	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	106					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.316G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	8.689	0.906971	0.17833	.	.	ENSG00000198445	ENST00000359963	T	0.77877	-1.13	2.0	-0.34	0.12643	.	0.510530	0.14422	N	0.320613	T	0.62732	0.2452	L	0.34521	1.04	0.20703	N	0.999866	B	0.22604	0.072	B	0.29663	0.105	T	0.55717	-0.8097	10	0.72032	D	0.01	-3.8288	2.1264	0.03740	0.3126:0.4878:0.0:0.1996	.	106	Q96SF2	TCPQM_HUMAN	S	106	ENSP00000353048:A106S	ENSP00000353048:A106S	A	-	1	0	CCT8L2	15453125	0.183000	0.23186	0.614000	0.29051	0.183000	0.23260	0.009000	0.13219	0.166000	0.19597	-0.784000	0.03344	GCC		0.662	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			10	24	1	0	0.000442599	1	0.00048047	10	24				
DUOX2	50506	broad.mit.edu	37	15	45386444	45386444	+	Silent	SNP	G	G	A	rs201793284		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45386444G>A	ENST00000603300.1	-	34	4753	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	DUOX2_ENST00000389039.6_Silent_p.C1517C	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1517					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGAGGGCCGCAGCTGAACA	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19448	0.0		0.0	False		,,,				2504	0.0					ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4549-4551)tgC>tgT		dual oxidase 2							102.0	89.0	94.0					15																	45386444		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45386444G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4551C>T	15.37:g.45386444G>A						DUOX2_ENST00000603300.1_Silent_p.C1517C	p.C1517C			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	34	4936	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1517					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.4551C>T	CCDS10117.1																																																																																				0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		16	19	0	0	0	1	0	16	19				
TMEM106C	79022	broad.mit.edu	37	12	48361031	48361031	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48361031G>C	ENST00000429772.2	+	7	756	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.V144L|TMEM106C_ENST00000256686.6_Missense_Mutation_p.V196L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.V215L|TMEM106C_ENST00000550552.1_Missense_Mutation_p.V196L|TMEM106C_ENST00000449758.2_Missense_Mutation_p.V196L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	215						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GCACAACATAGTGATCTTCAT	0.498																																						ENST00000429772.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14						c.(643-645)Gtg>Ctg		transmembrane protein 106C							287.0	257.0	267.0					12																	48361031		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48361031G>C	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.643G>C	12.37:g.48361031G>C	ENSP00000400471:p.Val215Leu					TMEM106C_ENST00000449758.2_Missense_Mutation_p.V196L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.V215L|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.V196L|TMEM106C_ENST00000256686.6_Missense_Mutation_p.V196L|TMEM106C_ENST00000552546.1_Missense_Mutation_p.V144L	p.V215L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	7	756	+		Acute lymphoblastic leukemia(13;0.11)	215					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.643G>C	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.243896|2.243896	0.39697|0.39697	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000547682|ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640	.|T;T;T;T;T;T;T	.|0.24908	.|1.83;1.83;1.83;1.83;1.83;1.83;1.83	4.59|4.59	3.69|3.69	0.42338|0.42338	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17916|0.17916	0.0430|0.0430	L|L	0.39898|0.39898	1.24|1.24	0.54753|0.54753	D|D	0.999981|0.999981	.|P;B	.|0.41978	.|0.767;0.38	.|B;B	.|0.34991	.|0.193;0.122	T|T	0.05007|0.05007	-1.0912|-1.0912	5|10	.|0.21014	.|T	.|0.42	1.3278|1.3278	12.6562|12.6562	0.56788|0.56788	0.0:0.167:0.833:0.0|0.0:0.167:0.833:0.0	.|.	.|215;196	.|Q9BVX2;Q9BVX2-2	.|T106C_HUMAN;.	T|L	82|196;215;144;196;215;196;125	.|ENSP00000256686:V196L;ENSP00000446657:V215L;ENSP00000448268:V144L;ENSP00000449737:V196L;ENSP00000400471:V215L;ENSP00000402705:V196L;ENSP00000447254:V125L	.|ENSP00000256686:V196L	S|V	+|+	2|1	0|0	TMEM106C|TMEM106C	46647298|46647298	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.988000|0.988000	0.76386|0.76386	4.369000|4.369000	0.59511|0.59511	1.524000|1.524000	0.49035|0.49035	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.498	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		15	160	0	0	0	1	0	15	160				
FNBP1	23048	broad.mit.edu	37	9	132740835	132740835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132740835C>T	ENST00000446176.2	-	4	440	c.254G>A	c.(253-255)gGg>gAg	p.G85E	FNBP1_ENST00000355681.3_Missense_Mutation_p.G85E|FNBP1_ENST00000420781.1_Missense_Mutation_p.G85E	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	85	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCATGCTGCCCTGCGTAATC	0.443			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(253-255)gGg>gAg		formin binding protein 1							133.0	127.0	129.0					9																	132740835		2003	4187	6190	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132740835C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.254G>A	9.37:g.132740835C>T	ENSP00000413625:p.Gly85Glu					FNBP1_ENST00000355681.3_Missense_Mutation_p.G85E|FNBP1_ENST00000446176.2_Missense_Mutation_p.G85E	p.G85E			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	4	472	-		Ovarian(14;0.000536)	85			Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.254G>A	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528655|4.528655	0.85706|0.85706	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681|ENST00000449089	T;T;T|.	0.15372|.	2.43;2.43;2.43|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Fps/Fes/Fer/CIP4 homology (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.85852|0.85852	0.5793|0.5793	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D;D|.	0.97110|.	0.996;0.999;0.975;1.0;0.998;0.983;0.98|.	D|D	0.87836|0.87836	0.2648|0.2648	10|7	0.87932|0.87932	D|D	0|0	-34.2401|-34.2401	19.267|19.267	0.93990|0.93990	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;85;85;85;46;85;85|.	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;FNBP1_HUMAN|.	E|S	85|47	ENSP00000413625:G85E;ENSP00000407548:G85E;ENSP00000347907:G85E|.	ENSP00000347907:G85E|ENSP00000415602:G47S	G|G	-|-	2|1	0|0	FNBP1|FNBP1	131780656|131780656	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.451000|0.451000	0.32288|0.32288	7.020000|7.020000	0.76419|0.76419	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GGG|GGC		0.443	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			21	29	0	0	0	1	0	21	29				
SLC16A9	220963	broad.mit.edu	37	10	61414270	61414270	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61414270G>T	ENST00000395348.3	-	5	1150	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L172M	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	172					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCCACAATCAGCAAGCATCCA	0.438																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(514-516)Ctg>Atg		solute carrier family 16, member 9							114.0	120.0	118.0					10																	61414270		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61414270G>T	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.514C>A	10.37:g.61414270G>T	ENSP00000378757:p.Leu172Met					SLC16A9_ENST00000395347.1_Missense_Mutation_p.L172M	p.L172M	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			5	1150	-			172					Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.514C>A	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575956	0.65878	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.60424	0.19;0.19	5.12	2.25	0.28309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.069846	0.64402	D	0.000014	T	0.74007	0.3660	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72440	-0.4293	10	0.51188	T	0.08	.	10.0904	0.42443	0.2201:0.0:0.7799:0.0	.	172	Q7RTY1	MOT9_HUMAN	M	172	ENSP00000378757:L172M;ENSP00000378756:L172M	ENSP00000378756:L172M	L	-	1	2	SLC16A9	61084276	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	3.036000	0.49767	0.183000	0.20059	0.591000	0.81541	CTG		0.438	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		35	76	1	0	2.32173e-10	1	2.85835e-10	35	76				
NPFFR2	10886	broad.mit.edu	37	4	72897732	72897732	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72897732G>A	ENST00000308744.6	+	1	212	c.114G>A	c.(112-114)caG>caA	p.Q38Q	NPFFR2_ENST00000344413.5_Silent_p.Q38Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	38					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCGTCCAGCAGCGCGGCGGGC	0.677																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(112-114)caG>caA		neuropeptide FF receptor 2							24.0	29.0	28.0					4																	72897732		2192	4284	6476	SO:0001819	synonymous_variant	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897732G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.114G>A	4.37:g.72897732G>A						NPFFR2_ENST00000344413.5_Silent_p.Q38Q	p.Q38Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	212	+			38					Q96RV1|Q9NR49	Silent	SNP	ENST00000308744.6	37	c.114G>A	CCDS3551.1																																																																																				0.677	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		16	19	0	0	0	1	0	16	19				
PLCG1	5335	broad.mit.edu	37	20	39793914	39793914	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39793914C>T	ENST00000373271.1	+	14	1821	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	PLCG1_ENST00000373272.2_Silent_p.Y472Y|PLCG1_ENST00000244007.3_Silent_p.Y472Y	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	472					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAGTGCCTACGAGGAGGTGC	0.562																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(1414-1416)taC>taT		phospholipase C, gamma 1							84.0	80.0	82.0					20																	39793914		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39793914C>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1416C>T	20.37:g.39793914C>T						PLCG1_ENST00000373271.1_Silent_p.Y472Y|PLCG1_ENST00000244007.3_Silent_p.Y472Y	p.Y472Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			14	1821	+		Myeloproliferative disorder(115;0.00878)	472					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.1416C>T	CCDS13314.1																																																																																				0.562	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		13	52	0	0	0	1	0	13	52				
MRPS31	10240	broad.mit.edu	37	13	41323302	41323302	+	Silent	SNP	T	T	C	rs142931494		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41323302T>C	ENST00000323563.6	-	6	966	c.930A>G	c.(928-930)ctA>ctG	p.L310L	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	310						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGAACTCCCATAGTTTCCCCT	0.378													T|||	1	0.000199681	0.0008	0.0	5008	,	,		15994	0.0		0.0	False		,,,				2504	0.0					ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(928-930)ctA>ctG		mitochondrial ribosomal protein S31		T		2,4404	4.2+/-10.8	0,2,2201	130.0	127.0	128.0		930	0.4	1.0	13	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	MRPS31	NM_005830.3		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		310/396	41323302	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41323302T>C	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.930A>G	13.37:g.41323302T>C						MRPS31_ENST00000498078.1_5'UTR	p.L310L	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	6	966	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	310					B2RCS3|Q5VYC8|Q8WTV8	Silent	SNP	ENST00000323563.6	37	c.930A>G	CCDS9372.1																																																																																				0.378	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			46	94	0	0	0	1	0	46	94				
LY6G6F	259215	broad.mit.edu	37	6	31675698	31675698	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31675698C>A	ENST00000375832.4	+	3	455	c.433C>A	c.(433-435)Ctg>Atg	p.L145M	LY6G6F_ENST00000556581.1_Missense_Mutation_p.L145M|XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Missense_Mutation_p.L145M	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CAATGTCCTCCTGTGCTCTGT	0.607																																						ENST00000503322.1																			0											c.(433-435)Ctg>Atg									80.0	76.0	77.0					6																	31675698		1511	2709	4220	SO:0001583	missense	0							g.chr6:31675698C>A		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.433C>A	6.37:g.31675698C>A	ENSP00000364992:p.Leu145Met					LY6G6F_ENST00000556581.1_Missense_Mutation_p.L145M|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.L145M	p.L145M							3	436	+								B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.433C>A	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789392	0.31685	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.21543	2.3;2.0;2.3	5.5	-2.48	0.06423	.	0.289424	0.24881	N	0.034847	T	0.09291	0.0229	M	0.62723	1.935	0.09310	N	1	P;P	0.41748	0.761;0.761	P;P	0.46585	0.521;0.521	T	0.16897	-1.0387	10	0.66056	D	0.02	-10.0384	1.2767	0.02032	0.1272:0.2394:0.2734:0.36	.	145;145	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	M	145	ENSP00000452432:L145M;ENSP00000364992:L145M;ENSP00000421232:L145M	ENSP00000364992:L145M	L	+	1	2	XXbac-BPG32J3.19;LY6G6F	31783677	0.051000	0.20477	0.932000	0.37286	0.621000	0.37620	-0.406000	0.07187	-0.207000	0.10187	-0.226000	0.12346	CTG		0.607	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		8	66	1	0	5.18039e-06	1	5.91835e-06	8	66				
PADI1	29943	broad.mit.edu	37	1	17552316	17552316	+	Missense_Mutation	SNP	G	G	A	rs144288276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17552316G>A	ENST00000375471.4	+	5	511	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	140					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAAACCTGGCGCTGGGGCCCT	0.587																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(418-420)cGc>cAc		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	74.0	72.0		419	2.9	1.0	1	dbSNP_134	72	0,8600		0,0,4300	no	missense	PADI1	NM_013358.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	140/664	17552316	1,13005	2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552316G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.419G>A	1.37:g.17552316G>A	ENSP00000364620:p.Arg140His						p.R140H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	5	511	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	140					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.419G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405485	0.62288	2.27E-4	0.0	ENSG00000142623	ENST00000375471	T	0.14266	2.52	4.91	2.9	0.33743	Protein-arginine deiminase (PAD), central domain (2);	0.285341	0.32357	N	0.006207	T	0.25606	0.0623	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	P	0.61070	0.883	T	0.01156	-1.1434	10	0.56958	D	0.05	-29.6402	7.2147	0.25953	0.0988:0.3374:0.5637:0.0	.	140	Q9ULC6	PADI1_HUMAN	H	140	ENSP00000364620:R140H	ENSP00000364620:R140H	R	+	2	0	PADI1	17424903	0.170000	0.23016	1.000000	0.80357	0.703000	0.40648	-0.089000	0.11180	1.063000	0.40649	0.305000	0.20034	CGC		0.587	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		43	50	0	0	0	1	0	43	50				
CHRNB1	1140	broad.mit.edu	37	17	7350450	7350450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7350450C>T	ENST00000306071.2	+	5	509	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_Missense_Mutation_p.R76C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R76C	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	148					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GGGCATCTATCGCAGCAGCTG	0.572																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(442-444)Cgc>Tgc		cholinergic receptor, nicotinic, beta 1 (muscle)							68.0	64.0	66.0					17																	7350450		2203	4300	6503	SO:0001583	missense	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7350450C>T	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.442C>T	17.37:g.7350450C>T	ENSP00000304290:p.Arg148Cys					CHRNB1_ENST00000536404.2_Missense_Mutation_p.R76C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R76C	p.R148C	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			5	509	+		Prostate(122;0.157)	148					B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	c.442C>T	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450835	0.63290	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.80123	-1.34;-1.34	5.05	5.05	0.67936	Neurotransmitter-gated ion-channel ligand-binding (3);	0.194837	0.46145	D	0.000307	T	0.78310	0.4263	M	0.67700	2.07	0.80722	D	1	B	0.19200	0.034	B	0.23018	0.043	T	0.76647	-0.2882	10	0.72032	D	0.01	.	10.8942	0.47012	0.1874:0.8126:0.0:0.0	.	148	P11230	ACHB_HUMAN	C	148;76	ENSP00000304290:R148C;ENSP00000439209:R76C	ENSP00000304290:R148C	R	+	1	0	CHRNB1	7291174	0.065000	0.20965	0.998000	0.56505	0.994000	0.84299	0.735000	0.26115	2.632000	0.89209	0.491000	0.48974	CGC		0.572	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			20	21	0	0	0	1	0	20	21				
KMT2D	8085	broad.mit.edu	37	12	49449062	49449062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49449062C>T	ENST00000301067.7	-	1	45	c.46G>A	c.(46-48)Gca>Aca	p.A16T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	16					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TACTCACCTGCCGGTTCTGAA	0.502																																						ENST00000301067.7																			0											c.(46-48)Gca>Aca		lysine (K)-specific methyltransferase 2D							77.0	79.0	78.0					12																	49449062		1901	4128	6029	SO:0001583	missense	8085							g.chr12:49449062C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.46G>A	12.37:g.49449062C>T	ENSP00000301067:p.Ala16Thr						p.A16T	NM_003482.3	NP_003473.3					1	45	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.46G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546690	0.27652	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	T	0.80653	-1.4	5.0	5.0	0.66597	.	0.270733	0.19691	N	0.108277	T	0.60792	0.2296	N	0.04508	-0.205	0.26256	N	0.978655	B	0.19073	0.033	B	0.14023	0.01	T	0.55685	-0.8102	10	0.87932	D	0	.	9.0444	0.36338	0.1638:0.6776:0.1586:0.0	.	16	O14686	MLL2_HUMAN	T	16	ENSP00000301067:A16T	ENSP00000301067:A16T	A	-	1	0	MLL2	47735329	0.992000	0.36948	0.998000	0.56505	0.812000	0.45895	2.496000	0.45346	2.449000	0.82847	0.557000	0.71058	GCA		0.502	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	27	0	0	0	1	0	12	27				
OTOGL	283310	broad.mit.edu	37	12	80647251	80647251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80647251G>A	ENST00000547103.1	+	13	1270	c.1264G>A	c.(1264-1266)Gta>Ata	p.V422I	OTOGL_ENST00000458043.2_Missense_Mutation_p.V422I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	422	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTAGGCCTCGTAATGGACAA	0.328																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1264-1266)Gta>Ata		otogelin-like							147.0	135.0	139.0					12																	80647251		1821	4073	5894	SO:0001583	missense	283310							g.chr12:80647251G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1264G>A	12.37:g.80647251G>A	ENSP00000447211:p.Val422Ile					OTOGL_ENST00000547103.1_Missense_Mutation_p.V422I	p.V422I	NM_173591.3	NP_775862.3					13	1270	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1264G>A		.	.	.	.	.	.	.	.	.	.	G	1.944	-0.442979	0.04604	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.66460	-0.21;-0.21	5.71	4.57	0.56435	.	.	.	.	.	T	0.42108	0.1188	N	0.11000	0.08	0.28855	N	0.895836	.	.	.	.	.	.	T	0.25398	-1.0133	7	0.02654	T	1	.	11.5945	0.50964	0.9302:0.0:0.0698:0.0	.	.	.	.	I	422	ENSP00000447211:V422I;ENSP00000400895:V422I	ENSP00000400895:V422I	V	+	1	0	OTOGL	79171382	0.993000	0.37304	0.998000	0.56505	0.547000	0.35210	2.994000	0.49433	1.003000	0.39130	-0.247000	0.11927	GTA		0.328	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		14	34	0	0	0	1	0	14	34				
ZNF117	51351	broad.mit.edu	37	7	64441793	64441793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64441793C>T	ENST00000282869.6	-	3	1290	c.6G>A	c.(4-6)aaG>aaA	p.K2K		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	2					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCATGTCTCTTCATATTCC	0.403																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(4-6)aaG>aaA		zinc finger protein 117							212.0	217.0	216.0					7																	64441793		2203	4300	6503	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64441793C>T	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.6G>A	7.37:g.64441793C>T							p.K2K	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			3	1290	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	2					Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.6G>A	CCDS43593.1																																																																																				0.403	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		100	84	0	0	0	1	0	100	84				
SBK1	388228	broad.mit.edu	37	16	28328853	28328853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28328853C>T	ENST00000341901.4	+	2	930	c.141C>T	c.(139-141)agC>agT	p.S47S		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	47						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						TGGCCGCCAGCGACGTCACCA	0.632											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(139-141)agC>agT		SH3 domain binding kinase 1							72.0	65.0	67.0					16																	28328853		2197	4300	6497	SO:0001819	synonymous_variant	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28328853C>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.141C>T	16.37:g.28328853C>T			OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.S47S	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			2	930	+			47						Silent	SNP	ENST00000341901.4	37	c.141C>T	CCDS32416.1																																																																																				0.632	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		23	25	0	0	0	1	0	23	25				
FAM73A	374986	broad.mit.edu	37	1	78324657	78324657	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78324657G>T	ENST00000370791.3	+	9	1063	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	FAM73A_ENST00000443751.2_Missense_Mutation_p.S306I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	344						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATACCTACAGCCTGGAGTCC	0.458																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1030-1032)aGc>aTc		family with sequence similarity 73, member A							134.0	108.0	117.0					1																	78324657		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78324657G>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1031G>T	1.37:g.78324657G>T	ENSP00000359827:p.Ser344Ile					FAM73A_ENST00000443751.2_Missense_Mutation_p.S306I	p.S344I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	9	1063	+			344					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1031G>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	6.538	0.467587	0.12402	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23147	1.92;1.92	5.56	4.63	0.57726	.	0.322570	0.36134	N	0.002765	T	0.08088	0.0202	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.32526	0.045;0.171;0.374;0.171	B;B;B;B	0.33799	0.045;0.17;0.143;0.17	T	0.17198	-1.0377	10	0.27082	T	0.32	-12.536	10.6611	0.45702	0.0717:0.1338:0.7945:0.0	.	306;344;344;344	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	I	344;306	ENSP00000359827:S344I;ENSP00000393675:S306I	ENSP00000359827:S344I	S	+	2	0	FAM73A	78097245	0.996000	0.38824	0.444000	0.26895	0.109000	0.19521	2.402000	0.44521	1.308000	0.44962	0.655000	0.94253	AGC		0.458	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		26	59	1	0	6.12954e-19	1	8.01027e-19	26	59				
ATG7	10533	broad.mit.edu	37	3	11468278	11468278	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468278G>A	ENST00000354449.3	+	18	1982	c.1957G>A	c.(1957-1959)Gtt>Att	p.V653I	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Splice_Site_p.V626I	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	653					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTTTTACAGGTTCTTGATCA	0.313																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.e18-1		autophagy related 7							70.0	69.0	69.0					3																	11468278		2203	4300	6503	SO:0001630	splice_region_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11468278G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1957-1G>A	3.37:g.11468278G>A						ATG7_ENST00000354956.5_Splice_Site_p.V626_splice|ATG7_ENST00000446450.2_Intron	p.V653_splice	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			18	1982	+			653					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Splice_Site	SNP	ENST00000354449.3	37	c.1956_splice	CCDS2605.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.599107|3.599107	0.66332|0.66332	.|.	.|.	ENSG00000197548|ENSG00000197548	ENST00000446110|ENST00000354956;ENST00000354449;ENST00000414717	.|T;T	.|0.54479	.|0.99;0.57	5.93|5.93	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.40815|0.40815	0.1132|0.1132	L|L	0.31804|0.31804	0.96|0.96	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.31318	.|0.319;0.213	.|B;B	.|0.31290	.|0.127;0.06	T|T	0.18555|0.18555	-1.0333|-1.0333	5|9	.|.	.|.	.|.	-19.8804|-19.8804	14.5999|14.5999	0.68432|0.68432	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	.|626;653	.|O95352-2;O95352	.|.;ATG7_HUMAN	N|I	53|626;653;54	.|ENSP00000347042:V626I;ENSP00000346437:V653I	.|.	S|V	+|+	2|1	0|0	ATG7|ATG7	11443278|11443278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.608000|7.608000	0.82898|0.82898	2.829000|2.829000	0.97493|0.97493	0.644000|0.644000	0.83932|0.83932	AGT|GTT		0.313	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395	Missense_Mutation	14	27	0	0	0	1	0	14	27				
SCG3	29106	broad.mit.edu	37	15	51984486	51984486	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51984486T>C	ENST00000220478.3	+	7	1224	c.821T>C	c.(820-822)cTc>cCc	p.L274P	SCG3_ENST00000542355.2_Missense_Mutation_p.L42P|RP11-313P18.2_ENST00000559918.1_lincRNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	274				EEL -> RDF (in Ref. 1; AAD44483). {ECO:0000305}.	blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTTGAGGAACTCCAATATTTC	0.383																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(820-822)cTc>cCc		secretogranin III							106.0	109.0	108.0					15																	51984486		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51984486T>C	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.821T>C	15.37:g.51984486T>C	ENSP00000220478:p.Leu274Pro					SCG3_ENST00000542355.2_Missense_Mutation_p.L42P	p.L274P	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	7	1224	+			274	EEL -> RDF (in Ref. 1; AAD44483).				A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.821T>C	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737293	0.89482	.	.	ENSG00000104112	ENST00000220478;ENST00000542355	T;T	0.39229	1.09;1.09	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58509	-0.7624	10	0.87932	D	0	-11.6329	16.5763	0.84648	0.0:0.0:0.0:1.0	.	274	Q8WXD2	SCG3_HUMAN	P	274;42	ENSP00000220478:L274P;ENSP00000445205:L42P	ENSP00000220478:L274P	L	+	2	0	SCG3	49771778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.211000	0.77933	2.317000	0.78254	0.459000	0.35465	CTC		0.383	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		6	93	0	0	0	1	0	6	93				
CEP192	55125	broad.mit.edu	37	18	13056632	13056632	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056632C>A	ENST00000325971.8	+	17	3848	c.2255C>A	c.(2254-2256)cCt>cAt	p.P752H	CEP192_ENST00000506447.1_Missense_Mutation_p.P1348H|CEP192_ENST00000430049.2_Missense_Mutation_p.P873H			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	752					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAACCTTTTCCTGTGCCGTCT	0.413																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4042-4044)cCt>cAt		centrosomal protein 192kDa							139.0	143.0	142.0					18																	13056632		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13056632C>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2255C>A	18.37:g.13056632C>A	ENSP00000317156:p.Pro752His					CEP192_ENST00000325971.8_Missense_Mutation_p.P752H|CEP192_ENST00000430049.2_Missense_Mutation_p.P873H	p.P1348H	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	4123	+			943					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4043C>A		.	.	.	.	.	.	.	.	.	.	C	9.195	1.027105	0.19512	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.08807	3.05;3.12;3.13	5.13	4.26	0.50523	.	0.364934	0.23893	N	0.043536	T	0.20129	0.0484	M	0.64997	1.995	0.09310	N	1	D;D;D	0.76494	0.99;0.996;0.999	P;P;D	0.66847	0.799;0.891;0.947	T	0.06534	-1.0821	10	0.87932	D	0	-4.1395	5.7051	0.17903	0.0:0.6262:0.1448:0.229	.	873;1348;752	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	H	1348;752;752;873	ENSP00000427550:P1348H;ENSP00000317156:P752H;ENSP00000389190:P873H	ENSP00000317156:P752H	P	+	2	0	CEP192	13046632	0.073000	0.21202	0.035000	0.18076	0.016000	0.09150	0.642000	0.24735	1.166000	0.42689	0.655000	0.94253	CCT		0.413	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		76	102	1	0	1.10181e-30	1	1.47666e-30	76	102				
LYPLA2	11313	broad.mit.edu	37	1	24120206	24120206	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24120206C>A	ENST00000374514.3	+	5	495	c.188C>A	c.(187-189)cCt>cAt	p.P63H	LYPLA2_ENST00000374503.3_Missense_Mutation_p.P63H|LYPLA2_ENST00000400061.1_Missense_Mutation_p.P63H|LYPLA2_ENST00000374505.2_Missense_Mutation_p.P63H|LYPLA2_ENST00000374501.1_5'UTR|LYPLA2_ENST00000374502.3_Missense_Mutation_p.P63H|LYPLA2_ENST00000495365.1_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	63					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTAGGATCCCTGTGACCCTC	0.657																																						ENST00000374514.3																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(187-189)cCt>cAt		lysophospholipase II							111.0	114.0	113.0					1																	24120206		2203	4300	6503	SO:0001583	missense	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24120206C>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.188C>A	1.37:g.24120206C>A	ENSP00000363638:p.Pro63His					LYPLA2_ENST00000374501.1_5'UTR|LYPLA2_ENST00000400061.1_Missense_Mutation_p.P63H|LYPLA2_ENST00000374505.2_Missense_Mutation_p.P63H|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374502.3_Missense_Mutation_p.P63H|LYPLA2_ENST00000374503.3_Missense_Mutation_p.P63H	p.P63H	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	5	495	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	63					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.188C>A	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128329	0.77549	.	.	ENSG00000011009	ENST00000374514;ENST00000400061;ENST00000374506;ENST00000374505;ENST00000420982;ENST00000374503;ENST00000374502;ENST00000421070	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.32	5.32	0.75619	Phospholipase/carboxylesterase/thioesterase (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.997;0.999	T	0.64381	-0.6421	10	0.66056	D	0.02	.	19.0008	0.92832	0.0:1.0:0.0:0.0	.	40;63;63;63	E9PH41;O95372;Q5QPN9;Q5QPQ2	.;LYPA2_HUMAN;.;.	H	63;63;40;63;40;63;63;63	ENSP00000363638:P63H;ENSP00000382934:P63H;ENSP00000363629:P63H;ENSP00000409004:P40H;ENSP00000363627:P63H;ENSP00000363626:P63H;ENSP00000388003:P63H	ENSP00000363626:P63H	P	+	2	0	LYPLA2	23992793	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.429000	0.80309	2.487000	0.83934	0.462000	0.41574	CCT		0.657	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			5	157	1	0	0.014758	1	0.0152625	5	157				
PARP2	10038	broad.mit.edu	37	14	20824133	20824133	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20824133C>A	ENST00000250416.5	+	11	1110	c.1083C>A	c.(1081-1083)caC>caA	p.H361Q	PARP2_ENST00000429687.3_Missense_Mutation_p.H348Q|PARP2_ENST00000527915.1_Missense_Mutation_p.H361Q	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	361	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGGACCAACACTATAGAAACC	0.388								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1081-1083)caC>caA	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							160.0	149.0	152.0					14																	20824133		1907	4119	6026	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20824133C>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1083C>A	14.37:g.20824133C>A	ENSP00000250416:p.His361Gln					PARP2_ENST00000429687.3_Missense_Mutation_p.H348Q|PARP2_ENST00000250416.5_Missense_Mutation_p.H361Q	p.H361Q			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	11	1088	+	all_cancers(95;0.00092)	all_lung(585;0.235)	361			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1083C>A	CCDS41910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.005|6.005	0.369274|0.369274	0.11352|0.11352	.|.	.|.	ENSG00000129484|ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915|ENST00000539930	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	6.03|6.03	1.67|1.67	0.24075|0.24075	Poly(ADP-ribose) polymerase, catalytic domain (1);Poly(ADP-ribose) polymerase, regulatory domain (3);|.	0.182149|.	0.49916|.	N|.	0.000123|.	T|T	0.23054|0.23054	0.0557|0.0557	N|N	0.05012|0.05012	-0.13|-0.13	0.38162|0.38162	D|D	0.939079|0.939079	B;B;B|.	0.21381|.	0.055;0.015;0.046|.	B;B;B|.	0.18561|.	0.022;0.013;0.022|.	T|T	0.06516|0.06516	-1.0822|-1.0822	10|5	0.09338|.	T|.	0.73|.	-12.1846|-12.1846	5.3989|5.3989	0.16284|0.16284	0.0:0.5462:0.1487:0.3051|0.0:0.5462:0.1487:0.3051	.|.	274;348;361|.	B4DV82;Q9UGN5-2;Q9UGN5|.	.;.;PARP2_HUMAN|.	Q|I	348;361;361|38	ENSP00000392972:H348Q;ENSP00000250416:H361Q;ENSP00000432283:H361Q|.	ENSP00000250416:H361Q|.	H|L	+|+	3|1	2|2	PARP2|PARP2	19893973|19893973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.637000|0.637000	0.38172|0.38172	0.360000|0.360000	0.20250|0.20250	0.440000|0.440000	0.26502|0.26502	-0.140000|-0.140000	0.14226|0.14226	CAC|CTA		0.388	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			5	98	1	0	0.014758	1	0.0152625	5	98				
SYNE3	161176	broad.mit.edu	37	14	95906101	95906101	+	Silent	SNP	C	C	T	rs141403586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95906101C>T	ENST00000334258.5	-	12	2108	c.2094G>A	c.(2092-2094)ccG>ccA	p.P698P	SYNE3_ENST00000554873.1_Silent_p.P455P|SYNE3_ENST00000557275.1_Silent_p.P698P	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	698					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCTCCTTCTCCGGGAATTCTG	0.622																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(2092-2094)ccG>ccA		spectrin repeat containing, nuclear envelope family member 3		C		0,4406		0,0,2203	38.0	41.0	40.0		2094	-9.4	0.7	14	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C14orf49	NM_152592.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		698/976	95906101	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95906101C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2094G>A	14.37:g.95906101C>T						SYNE3_ENST00000557275.1_Silent_p.P698P|SYNE3_ENST00000554873.1_Silent_p.P455P	p.P698P	NM_152592.3	NP_689805.3					12	2108	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.2094G>A	CCDS9935.1																																																																																				0.622	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		10	27	0	0	0	1	0	10	27				
XPNPEP1	7511	broad.mit.edu	37	10	111637817	111637817	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111637817C>A	ENST00000502935.1	-	13	1302		c.e13-1		XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTTGGGAACCTATGAGAAAA	0.443																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.e13-1		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							96.0	98.0	97.0					10																	111637817		2203	4300	6503	SO:0001630	splice_region_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111637817C>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1183-1G>T	10.37:g.111637817C>A						XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site				Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	13	1302	-		Breast(234;0.174)							Splice_Site	SNP	ENST00000502935.1	37		CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260347	0.80246	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0453	0.89330	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XPNPEP1	111627807	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.887000	0.75616	2.793000	0.96121	0.563000	0.77884	.		0.443	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2		Intron	20	35	1	0	3.10358e-05	1	3.48756e-05	20	35				
NCAPD3	23310	broad.mit.edu	37	11	134063963	134063963	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134063963G>T	ENST00000534548.2	-	15	1836	c.1772C>A	c.(1771-1773)cCt>cAt	p.P591H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	591					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGACACTGCAGGGTCCCGACA	0.458																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1771-1773)cCt>cAt		non-SMC condensin II complex, subunit D3							81.0	74.0	76.0					11																	134063963		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134063963G>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1772C>A	11.37:g.134063963G>T	ENSP00000433681:p.Pro591His						p.P591H	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	15	1836	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	591					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1772C>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982784	0.74474	.	.	ENSG00000151503	ENST00000534548	T	0.68479	-0.33	5.55	4.63	0.57726	Armadillo-like helical (1);Armadillo-type fold (1);	0.099904	0.64402	D	0.000001	T	0.80649	0.4663	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.83192	-0.0083	10	0.66056	D	0.02	-10.877	13.9449	0.64077	0.0753:0.0:0.9247:0.0	.	591	P42695	CNDD3_HUMAN	H	591	ENSP00000433681:P591H	ENSP00000431612:P591H	P	-	2	0	NCAPD3	133569173	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	5.804000	0.69135	1.439000	0.47511	0.655000	0.94253	CCT		0.458	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		4	60	1	0	0.00116845	1	0.00124821	4	60				
ROBO2	6092	broad.mit.edu	37	3	77147402	77147402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77147402G>T	ENST00000461745.1	+	2	1199	c.299G>T	c.(298-300)aGg>aTg	p.R100M	ROBO2_ENST00000487694.3_Missense_Mutation_p.R116M|ROBO2_ENST00000332191.8_Missense_Mutation_p.R100M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	100	Ig-like C2-type 1.				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)		CACGGGCGCAGGAGTAAACCT	0.537																																						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.(298-300)aGg>aTg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							99.0	102.0	101.0					3																	77147402		2041	4196	6237	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.chr3:77147402G>T	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.299G>T	3.37:g.77147402G>T	ENSP00000417164:p.Arg100Met					ROBO2_ENST00000332191.8_Missense_Mutation_p.R100M|ROBO2_ENST00000487694.3_Missense_Mutation_p.R116M	p.R100M	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)	2	1199	+			100			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.299G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342575	0.61073	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.40225	1.04;1.04;1.04	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.42172	U	0.000754	T	0.54159	0.1841	L	0.39898	1.24	0.25510	N	0.987467	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.73708	0.981;0.967;0.981	T	0.63269	-0.6675	9	0.66056	D	0.02	.	12.8748	0.57984	0.0745:0.0:0.9255:0.0	.	116;100;100	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	M	116;116;116;100;100	ENSP00000417335:R116M;ENSP00000417164:R100M;ENSP00000327536:R100M	ENSP00000327536:R100M	R	+	2	0	ROBO2	77230092	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	8.058000	0.89460	2.628000	0.89032	0.655000	0.94253	AGG		0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	34	1	0	0.000157383	1	0.00017284	7	34				
SLC12A7	10723	broad.mit.edu	37	5	1064315	1064315	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1064315G>A	ENST00000264930.5	-	19	2533	c.2490C>T	c.(2488-2490)aaC>aaT	p.N830N	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	830					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGAGTCGACGTTCTTGGCCA	0.682																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2488-2490)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						36.0	39.0	38.0					5																	1064315		2195	4298	6493	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064315G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2490C>T	5.37:g.1064315G>A							p.N830N	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2533	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		830					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.2490C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	1.401	-0.578053	0.03854	.	.	ENSG00000113504	ENST00000513223	.	.	.	4.26	2.42	0.29668	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49428	-0.8941	4	.	.	.	.	7.6176	0.28167	0.2841:0.0:0.7159:0.0	.	.	.	.	C	188	.	.	R	-	1	0	SLC12A7	1117315	0.962000	0.33011	0.986000	0.45419	0.027000	0.11550	0.572000	0.23684	0.792000	0.33850	-0.698000	0.03680	CGT		0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		7	15	0	0	0	1	0	7	15				
ZNF200	7752	broad.mit.edu	37	16	3274160	3274160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3274160G>T	ENST00000431561.3	-	5	1532	c.920C>A	c.(919-921)cCt>cAt	p.P307H	ZNF200_ENST00000575948.1_Missense_Mutation_p.P306H|ZNF200_ENST00000414144.2_Missense_Mutation_p.P307H|ZNF200_ENST00000396871.4_Missense_Mutation_p.P306H|ZNF200_ENST00000396870.4_Missense_Mutation_p.P306H|ZNF200_ENST00000396868.3_Missense_Mutation_p.P306H|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGGAATAAGGTTTCTCTCC	0.388																																						ENST00000431561.3																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						c.(919-921)cCt>cAt		zinc finger protein 200							106.0	103.0	104.0					16																	3274160		2197	4300	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274160G>T	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.920C>A	16.37:g.3274160G>T	ENSP00000395723:p.Pro307His					ZNF200_ENST00000396871.4_Missense_Mutation_p.P306H|ZNF200_ENST00000414144.2_Missense_Mutation_p.P307H|ZNF200_ENST00000396870.4_Missense_Mutation_p.P306H|ZNF200_ENST00000396868.3_Missense_Mutation_p.P306H|ZNF200_ENST00000575948.1_Missense_Mutation_p.P306H|AJ003147.9_ENST00000576468.1_RNA	p.P307H	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN			5	1532	-			307					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.920C>A	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352310	0.61293	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.29397	1.57;1.57;1.57	5.31	5.31	0.75309	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000802	T	0.63803	0.2542	M	0.90542	3.125	0.35154	D	0.77004	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.77292	-0.2642	10	0.87932	D	0	-17.5175	16.4994	0.84253	0.0:0.0:1.0:0.0	.	306;307;306	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	H	307;306;306;306;307	ENSP00000380077:P306H;ENSP00000380080:P306H;ENSP00000395723:P307H	ENSP00000380077:P306H	P	-	2	0	ZNF200	3214161	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.472000	0.66768	2.759000	0.94783	0.557000	0.71058	CCT		0.388	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			22	104	1	0	2.32416e-17	1	3.01417e-17	22	104				
OR5D16	390144	broad.mit.edu	37	11	55606806	55606806	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55606806C>A	ENST00000378396.1	+	1	579	c.579C>A	c.(577-579)gaC>gaA	p.D193E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTACCCTGACTCTTATCTCA	0.393																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(577-579)gaC>gaA		olfactory receptor, family 5, subfamily D, member 16							186.0	163.0	171.0					11																	55606806		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606806C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.579C>A	11.37:g.55606806C>A	ENSP00000367649:p.Asp193Glu						p.D193E	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	579	+		all_epithelial(135;0.208)	193					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.579C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	19.98	3.927077	0.73327	.	.	ENSG00000205029	ENST00000378396	T	0.00227	8.5	4.17	-1.35	0.09114	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.81239	2.535	0.09310	N	1	P	0.49862	0.929	D	0.65010	0.931	T	0.49194	-0.8965	9	0.87932	D	0	-10.2857	0.9816	0.01437	0.1512:0.2598:0.1549:0.4341	.	193	Q8NGK9	OR5DG_HUMAN	E	193	ENSP00000367649:D193E	ENSP00000367649:D193E	D	+	3	2	OR5D16	55363382	0.000000	0.05858	0.001000	0.08648	0.800000	0.45204	-0.929000	0.03976	-0.162000	0.10964	-0.453000	0.05500	GAC		0.393	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		5	100	1	0	0.184627	1	0.186383	5	100				
ZNF37A	7587	broad.mit.edu	37	10	38406660	38406660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406660C>T	ENST00000361085.5	+	7	926	c.581C>T	c.(580-582)aCa>aTa	p.T194I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T194I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CATCAGCAAACACATCCAAGA	0.383																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(580-582)aCa>aTa		zinc finger protein 37A							85.0	84.0	84.0					10																	38406660		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406660C>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.581C>T	10.37:g.38406660C>T	ENSP00000354377:p.Thr194Ile					ZNF37A_ENST00000361085.4_Missense_Mutation_p.T194I	p.T194I	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1411	+			194					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.581C>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.952538	0.00050	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07688	3.17;3.17	1.78	-0.124	0.13523	.	.	.	.	.	T	0.02494	0.0076	N	0.03115	-0.41	0.26168	N	0.979905	P	0.43024	0.798	B	0.38880	0.284	T	0.22243	-1.0222	9	0.02654	T	1	.	5.8243	0.18544	0.0:0.685:0.0:0.315	.	194	P17032	ZN37A_HUMAN	I	194	ENSP00000329141:T194I;ENSP00000354377:T194I	ENSP00000329141:T194I	T	+	2	0	ZNF37A	38446666	0.000000	0.05858	0.098000	0.21074	0.033000	0.12548	-1.328000	0.02680	-0.037000	0.13646	-0.191000	0.12829	ACA		0.383	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		30	51	0	0	0	1	0	30	51				
SYNE1	23345	broad.mit.edu	37	6	152722419	152722419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152722419C>T	ENST00000367255.5	-	47	7484	c.6883G>A	c.(6883-6885)Gca>Aca	p.A2295T	SYNE1_ENST00000265368.4_Missense_Mutation_p.A2295T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2332T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2302T|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2302T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2295					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCCTTTTGCTACTTCAGTT	0.363										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6883-6885)Gca>Aca		spectrin repeat containing, nuclear envelope 1							109.0	102.0	104.0					6																	152722419		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152722419C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6883G>A	6.37:g.152722419C>T	ENSP00000356224:p.Ala2295Thr	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A2332T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2295T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2302T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2302T	p.A2295T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	47	7484	-		Ovarian(120;0.0955)	2295					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6883G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454239	0.84209	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000020	T	0.47469	0.1447	M	0.66939	2.045	0.80722	D	1	D;P;P;P	0.76494	0.999;0.836;0.836;0.693	D;B;B;B	0.66084	0.941;0.156;0.156;0.158	T	0.21177	-1.0253	10	0.17369	T	0.5	.	19.5655	0.95391	0.0:1.0:0.0:0.0	.	2278;2295;2295;2302	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	2295;2302;2295;2302;2332	ENSP00000356224:A2295T;ENSP00000396024:A2302T;ENSP00000265368:A2295T;ENSP00000390975:A2302T;ENSP00000341887:A2332T	ENSP00000265368:A2295T	A	-	1	0	SYNE1	152764112	1.000000	0.71417	0.967000	0.41034	0.979000	0.70002	6.840000	0.75369	2.639000	0.89480	0.591000	0.81541	GCA		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	56	0	0	0	1	0	29	56				
PDE1C	5137	broad.mit.edu	37	7	32209452	32209452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209452C>T	ENST00000396193.1	-	3	846	c.253G>A	c.(253-255)Gct>Act	p.A85T		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AATTCATCAGCTAGGATCTCC	0.498																																						ENST00000396193.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(253-255)Gct>Act		phosphodiesterase 1C, calmodulin-dependent 70kDa							138.0	120.0	125.0					7																	32209452		876	1991	2867	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209452C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.253G>A	7.37:g.32209452C>T	ENSP00000379496:p.Ala85Thr						p.A85T	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	846	-			0					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396193.1	37	c.253G>A	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834389	0.71373	.	.	ENSG00000154678	ENST00000396193	T	0.73152	-0.72	5.75	5.75	0.90469	.	2587.450000	0.00424	U	0.000065	T	0.60143	0.2246	N	0.02247	-0.625	0.80722	D	1	P	0.45044	0.849	P	0.45377	0.478	T	0.59690	-0.7407	10	0.13470	T	0.59	.	19.5452	0.95291	0.0:1.0:0.0:0.0	.	85	E9PE92	.	T	85	ENSP00000379496:A85T	ENSP00000379496:A85T	A	-	1	0	PDE1C	32175977	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	6.505000	0.73708	2.732000	0.93576	0.655000	0.94253	GCT		0.498	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			20	64	0	0	0	1	0	20	64				
SYT15	83849	broad.mit.edu	37	10	46963905	46963905	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46963905G>T	ENST00000374321.4	-	7	1124	c.1058C>A	c.(1057-1059)gCc>gAc	p.A353D	SYT15_ENST00000503753.1_Missense_Mutation_p.A353D|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Missense_Mutation_p.A353D|SYT15_ENST00000374323.4_Missense_Mutation_p.A406D|SYT15_ENST00000449358.2_5'Flank	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	353	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGTGGCATCGGCCTTGAAGCT	0.552																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1216-1218)gCc>gAc		synaptotagmin XV							134.0	135.0	135.0					10																	46963905		2130	4246	6376	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46963905G>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1058C>A	10.37:g.46963905G>T	ENSP00000363441:p.Ala353Asp					SYT15_ENST00000374321.4_Missense_Mutation_p.A353D|SYT15_ENST00000503753.1_Missense_Mutation_p.A353D|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Missense_Mutation_p.A353D	p.A406D			Q9BQS2	SYT15_HUMAN			6	1804	-			353					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1217C>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	16.73	3.203876	0.58234	.	.	ENSG00000204176	ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	4.52	-1.31	0.09230	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.576619	0.18619	N	0.135926	T	0.18299	0.0439	M	0.76838	2.35	0.22968	N	0.998492	P;P	0.52316	0.952;0.941	P;P	0.54815	0.761;0.648	T	0.04481	-1.0948	10	0.87932	D	0	.	9.1657	0.37050	0.7069:0.0:0.2931:0.0	.	353;353	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	D	143;353;353;192;406;353	ENSP00000363448:A143D;ENSP00000363445:A353D;ENSP00000427607:A353D;ENSP00000363443:A406D;ENSP00000363441:A353D	ENSP00000363441:A353D	A	-	2	0	SYT15	46383911	0.089000	0.21612	0.029000	0.17559	0.985000	0.73830	0.356000	0.20181	-0.179000	0.10654	0.650000	0.86243	GCC		0.552	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		18	72	1	0	1.67942e-08	1	2.01326e-08	18	72				
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A). {ECO:0000269|PubMed:8798680}.		DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000256996.4			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"""Mis, N"""	damage-specific DNA binding protein 2			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.(817-819)Cgc>Tgc	Direct reversal of damage;Nucleotide excision repair (NER)	damage-specific DNA binding protein 2, 48kDa							47.0	46.0	47.0					11																	47256422		2201	4298	6499	SO:0001583	missense	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47256422C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.817C>T	11.37:g.47256422C>T	ENSP00000256996:p.Arg273Cys					DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C	p.R273C	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN			6	1012	+			273		R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).			B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.817C>T	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368141	0.82463	.	.	ENSG00000134574	ENST00000256996;ENST00000378603	T;T	0.70164	-0.46;2.61	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.979	D	0.90587	0.4534	10	0.87932	D	0	-30.6072	14.5015	0.67724	0.182:0.8179:0.0:0.0	.	209;273	Q92466-4;Q92466	.;DDB2_HUMAN	C	273;209	ENSP00000256996:R273C;ENSP00000367866:R209C	ENSP00000256996:R273C	R	+	1	0	DDB2	47212998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.341000	0.52151	2.676000	0.91093	0.563000	0.77884	CGC		0.537	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		14	24	0	0	0	1	0	14	24				
CDK6	1021	broad.mit.edu	37	7	92404128	92404128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92404128G>A	ENST00000265734.4	-	3	662	c.251C>T	c.(250-252)aCa>aTa	p.T84I	CDK6_ENST00000424848.2_Missense_Mutation_p.T84I	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCGTGACACTGTGCACACATC	0.388			T	MLLT10	ALL																																	ENST00000265734.4				Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(250-252)aCa>aTa		cyclin-dependent kinase 6							113.0	103.0	107.0					7																	92404128		2203	4300	6503	SO:0001583	missense	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92404128G>A		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.251C>T	7.37:g.92404128G>A	ENSP00000265734:p.Thr84Ile					CDK6_ENST00000424848.2_Missense_Mutation_p.T84I	p.T84I	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		3	662	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		84			Protein kinase.		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	c.251C>T	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852673	0.71719	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.65916	-0.18;-0.18	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	N	0.05467	-0.045	0.80722	D	1	P	0.42123	0.771	B	0.44085	0.44	T	0.59873	-0.7372	10	0.59425	D	0.04	.	19.8529	0.96746	0.0:0.0:1.0:0.0	.	84	Q00534	CDK6_HUMAN	I	84	ENSP00000265734:T84I;ENSP00000397087:T84I	ENSP00000265734:T84I	T	-	2	0	CDK6	92242064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.713000	0.98740	2.755000	0.94549	0.655000	0.94253	ACA		0.388	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			4	77	0	0	0	1	0	4	77				
FBN3	84467	broad.mit.edu	37	19	8190852	8190852	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8190852G>A	ENST00000600128.1	-	22	3069	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	FBN3_ENST00000601739.1_Silent_p.C885C|FBN3_ENST00000270509.2_Silent_p.C885C			Q75N90	FBN3_HUMAN	fibrillin 3	885	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGTGTTGACGCAACGCCCGT	0.637																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2653-2655)tgC>tgT		fibrillin 3							68.0	58.0	61.0					19																	8190852		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190852G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2655C>T	19.37:g.8190852G>A						FBN3_ENST00000270509.2_Silent_p.C885C|FBN3_ENST00000601739.1_Silent_p.C885C	p.C885C			Q75N90	FBN3_HUMAN			22	3069	-			885			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.2655C>T	CCDS12196.1																																																																																				0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	23	0	0	0	1	0	14	23				
ATM	472	broad.mit.edu	37	11	108153589	108153589	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108153589T>C	ENST00000452508.2	+	26	3918	c.3729T>C	c.(3727-3729)aaT>aaC	p.N1243N	ATM_ENST00000278616.4_Silent_p.N1243N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1243					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.N1240fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACTACACAAATATTGAGGATT	0.289			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Deletion - Frameshift(1)	p.N1240fs*4(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(3727-3729)aaT>aaC	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							44.0	46.0	45.0					11																	108153589		2194	4285	6479	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108153589T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3729T>C	11.37:g.108153589T>C		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.N1243N	p.N1243N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	25	4114	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1243					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.3729T>C	CCDS31669.1																																																																																				0.289	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		3	29	0	0	0	1	0	3	29				
DOCK4	9732	broad.mit.edu	37	7	111617249	111617249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111617249G>A	ENST00000437633.1	-	8	895	c.639C>T	c.(637-639)aaC>aaT	p.N213N	DOCK4_ENST00000428084.1_Silent_p.N213N|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	213					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTCTCCCAGGTTGGAACACA	0.507																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(637-639)aaC>aaT		dedicator of cytokinesis 4							76.0	77.0	77.0					7																	111617249		1982	4161	6143	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617249G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.639C>T	7.37:g.111617249G>A						DOCK4_ENST00000437633.1_Silent_p.N213N|DOCK4_ENST00000476846.1_5'UTR	p.N213N			Q8N1I0	DOCK4_HUMAN			8	911	-		Acute lymphoblastic leukemia(1;0.0441)	213					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.639C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239415	0.22711	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.43	4.55	0.56014	.	.	.	.	.	T	0.59197	0.2176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56811	-0.7917	4	.	.	.	.	8.7292	0.34489	0.2165:0.0:0.7835:0.0	.	.	.	.	I	201	.	.	T	-	2	0	DOCK4	111404485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.624000	0.37018	1.277000	0.44412	0.563000	0.77884	ACC		0.507	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	16	0	0	0	1	0	6	16				
EPB41L3	23136	broad.mit.edu	37	18	5397138	5397138	+	Silent	SNP	G	G	A	rs192974284	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5397138G>A	ENST00000341928.2	-	18	3100	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	EPB41L3_ENST00000542146.1_Silent_p.A225A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Silent_p.A698A|EPB41L3_ENST00000342933.3_Silent_p.A920A|EPB41L3_ENST00000540638.2_Silent_p.A698A|EPB41L3_ENST00000427684.2_Silent_p.A217A|EPB41L3_ENST00000544123.1_Silent_p.A751A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	920	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGAAGCAGCGGCTGTCTCTT	0.507													G|||	5	0.000998403	0.0	0.0	5008	,	,		19096	0.005		0.0	False		,,,				2504	0.0					ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2758-2760)gcC>gcT		erythrocyte membrane protein band 4.1-like 3		G		0,4406		0,0,2203	107.0	88.0	95.0		2760	1.0	0.0	18		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPB41L3	NM_012307.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		920/1088	5397138	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397138G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2760C>T	18.37:g.5397138G>A						EPB41L3_ENST00000542146.1_Silent_p.A225A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Silent_p.A217A|EPB41L3_ENST00000540638.2_Silent_p.A698A|EPB41L3_ENST00000342933.3_Silent_p.A920A|EPB41L3_ENST00000400111.3_Silent_p.A698A|EPB41L3_ENST00000544123.1_Silent_p.A751A	p.A920A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3100	-			920			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2760C>T	CCDS11838.1																																																																																				0.507	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		6	64	0	0	0	1	0	6	64				
PLEKHM2	23207	broad.mit.edu	37	1	16059187	16059187	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16059187G>A	ENST00000375799.3	+	19	3113	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.L942L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	962					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCGATTGCTGTCTGCACTGA	0.617																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2884-2886)ctG>ctA		pleckstrin homology domain containing, family M (with RUN domain) member 2							54.0	61.0	59.0					1																	16059187		2024	4199	6223	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16059187G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2886G>A	1.37:g.16059187G>A						PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.L942L	p.L962L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	19	3113	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	962					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.2886G>A	CCDS44063.1																																																																																				0.617	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		3	4	0	0	0	1	0	3	4				
CNOT2	4848	broad.mit.edu	37	12	70724200	70724200	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70724200A>G	ENST00000418359.3	+	7	971	c.520A>G	c.(520-522)Ata>Gta	p.I174V	CNOT2_ENST00000229195.3_Missense_Mutation_p.I174V|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	174					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCCAAGCATAATATGTATGCC	0.453																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(520-522)Ata>Gta		CCR4-NOT transcription complex, subunit 2							149.0	141.0	144.0					12																	70724200		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70724200A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.520A>G	12.37:g.70724200A>G	ENSP00000412091:p.Ile174Val					CNOT2_ENST00000418359.3_Missense_Mutation_p.I174V|CNOT2_ENST00000548230.1_3'UTR	p.I174V	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		6	1099	+	Renal(347;0.236)		174					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.520A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510726	0.64522	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.44083	0.93;0.93;0.95;0.93	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.29908	0.895	0.53005	D	0.999967	D	0.53151	0.958	P	0.48552	0.581	T	0.08186	-1.0734	10	0.15952	T	0.53	-10.6714	15.6247	0.76845	1.0:0.0:0.0:0.0	.	174	Q9NZN8	CNOT2_HUMAN	V	174;174;174;154;165;174;174;89;174	ENSP00000229195:I174V;ENSP00000412091:I174V;ENSP00000449659:I165V;ENSP00000449260:I174V	ENSP00000229195:I174V	I	+	1	0	CNOT2	69010467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.256000	0.78350	2.147000	0.66899	0.455000	0.32223	ATA		0.453	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			4	122	0	0	0	1	0	4	122				
YIF1A	10897	broad.mit.edu	37	11	66052906	66052906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66052906C>T	ENST00000376901.4	-	6	771	c.587G>A	c.(586-588)cGc>cAc	p.R196H	YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000471387.2_Missense_Mutation_p.R53H	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	196					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CAGGTCACTGCGCACGGTGGC	0.647																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(586-588)cGc>cAc		Yip1 interacting factor homolog A (S. cerevisiae)							81.0	70.0	73.0					11																	66052906		2200	4295	6495	SO:0001583	missense	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66052906C>T	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.587G>A	11.37:g.66052906C>T	ENSP00000366098:p.Arg196His					YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000471387.2_Missense_Mutation_p.R53H	p.R196H	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			6	771	-			196					A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	ENST00000376901.4	37	c.587G>A	CCDS8132.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194108	0.38707	.	.	ENSG00000174851	ENST00000471387;ENST00000376901;ENST00000376904	T	0.42900	0.96	4.7	3.78	0.43462	.	0.113383	0.64402	N	0.000009	T	0.22589	0.0545	N	0.12746	0.255	0.38936	D	0.958049	B	0.19706	0.038	B	0.18871	0.023	T	0.06954	-1.0798	10	0.44086	T	0.13	-1.9076	6.693	0.23183	0.0:0.7154:0.0:0.2846	.	196	O95070	YIF1A_HUMAN	H	53;196;200	ENSP00000366098:R196H	ENSP00000366098:R196H	R	-	2	0	YIF1A	65809482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.879000	0.28146	1.126000	0.42016	0.561000	0.74099	CGC		0.647	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		25	25	0	0	0	1	0	25	25				
ITGAM	3684	broad.mit.edu	37	16	31332801	31332801	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31332801A>G	ENST00000287497.8	+	16	1930	c.1855A>G	c.(1855-1857)Aga>Gga	p.R619G	ITGAM_ENST00000544665.3_Missense_Mutation_p.R620G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	619					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCCAGTACTGAGAGTCAAGGC	0.493																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1858-1860)Aga>Gga		integrin, alpha M (complement component 3 receptor 3 subunit)							293.0	289.0	290.0					16																	31332801		2053	4212	6265	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332801A>G	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1855A>G	16.37:g.31332801A>G	ENSP00000287497:p.Arg619Gly					ITGAM_ENST00000287497.8_Missense_Mutation_p.R619G	p.R620G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			16	1929	+			619					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1858A>G	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	A	8.790	0.930300	0.18131	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.55413	0.52;0.52	5.19	5.19	0.71726	Integrin alpha-2 (1);	.	.	.	.	T	0.48804	0.1520	L	0.52905	1.665	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.20384	0.029;0.029;0.029	T	0.37033	-0.9723	9	0.35671	T	0.21	.	11.3446	0.49552	1.0:0.0:0.0:0.0	.	25;619;619	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	G	620;619	ENSP00000441691:R620G;ENSP00000287497:R619G	ENSP00000287497:R619G	R	+	1	2	ITGAM	31240302	0.869000	0.29996	0.033000	0.17914	0.625000	0.37756	1.970000	0.40520	2.165000	0.68154	0.533000	0.62120	AGA		0.493	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		18	272	0	0	0	1	0	18	272				
WRAP53	55135	broad.mit.edu	37	17	7605088	7605088	+	Silent	SNP	C	C	T	rs73248508	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7605088C>T	ENST00000316024.5	+	6	3284	c.936C>T	c.(934-936)tgC>tgT	p.C312C	WRAP53_ENST00000534050.1_Silent_p.C279C|WRAP53_ENST00000431639.2_Silent_p.C312C|WRAP53_ENST00000457584.2_Silent_p.C312C|WRAP53_ENST00000396463.2_Silent_p.C312C			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	312					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCCGAGACTGCGAGGTCCGAG	0.632													C|||	19	0.00379393	0.0129	0.0014	5008	,	,		15277	0.0		0.001	False		,,,				2504	0.0					ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(934-936)tgC>tgT		WD repeat containing, antisense to TP53		C	,,,	44,4362	45.3+/-79.5	0,44,2159	30.0	29.0	30.0		936,936,936,936	-6.5	1.0	17	dbSNP_130	30	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WRAP53	NM_001143990.1,NM_001143991.1,NM_001143992.1,NM_018081.2	,,,	0,64,6439	TT,TC,CC		0.2326,0.9986,0.4921	,,,	312/549,312/549,312/549,312/549	7605088	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7605088C>T	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.936C>T	17.37:g.7605088C>T						WRAP53_ENST00000396463.2_Silent_p.C312C|WRAP53_ENST00000534050.1_Silent_p.C279C|WRAP53_ENST00000457584.2_Silent_p.C312C|WRAP53_ENST00000431639.2_Silent_p.C312C	p.C312C			Q9BUR4	WAP53_HUMAN			6	3284	+			312					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.936C>T	CCDS11119.1																																																																																				0.632	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		3	8	0	0	0	1	0	3	8				
ABCG5	64240	broad.mit.edu	37	2	44051083	44051083	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051083C>T	ENST00000260645.1	-	9	1432	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	ABCG5_ENST00000405322.1_Silent_p.P260P|ABCG5_ENST00000543989.1_Silent_p.P36P	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	431	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.P431P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGCCTGTGTACGGGGTGGCGC	0.537																																						ENST00000543989.1																			1	Substitution - coding silent(1)	p.P431P(1)	lung(1)	breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(106-108)ccG>ccA		ATP-binding cassette, sub-family G (WHITE), member 5							88.0	71.0	77.0					2																	44051083		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051083C>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1293G>A	2.37:g.44051083C>T						ABCG5_ENST00000405322.1_Silent_p.P260P|ABCG5_ENST00000260645.1_Silent_p.P431P	p.P36P			Q9H222	ABCG5_HUMAN			5	1813	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	431					Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.108G>A	CCDS1814.1																																																																																				0.537	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		14	19	0	0	0	1	0	14	19				
CLRN1	7401	broad.mit.edu	37	3	150659373	150659373	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150659373A>G	ENST00000327047.1	-	2	719	c.429T>C	c.(427-429)atT>atC	p.I143I	RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.F53S|CLRN1_ENST00000295911.2_Silent_p.I67I|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.I143I	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	143					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACTTACCTGAAATGAAGCTCA	0.363																																						ENST00000569170.1																			0											c.(157-159)tTt>tCt									70.0	71.0	71.0					3																	150659373		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr3:150659373A>G	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.429T>C	3.37:g.150659373A>G						RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000327047.1_Silent_p.I143I|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.I143I|CLRN1_ENST00000295911.2_Silent_p.I67I	p.F53S							1	157	-								D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.158T>C	CCDS3153.1																																																																																				0.363	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			10	26	0	0	0	1	0	10	26				
MRPL19	9801	broad.mit.edu	37	2	75879745	75879745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879745G>A	ENST00000393909.2	+	4	462	c.437G>A	c.(436-438)gGa>gAa	p.G146E	MRPL19_ENST00000409374.1_Missense_Mutation_p.G146E|MRPL19_ENST00000358788.6_Missense_Mutation_p.G146E	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	146					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						AGAGGACTTGGAGCTACTTTC	0.383																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(436-438)gGa>gAa		mitochondrial ribosomal protein L19							139.0	126.0	130.0					2																	75879745		1853	4086	5939	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879745G>A	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.437G>A	2.37:g.75879745G>A	ENSP00000377486:p.Gly146Glu					MRPL19_ENST00000409374.1_Missense_Mutation_p.G146E|MRPL19_ENST00000358788.6_Missense_Mutation_p.G146E	p.G146E	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			4	462	+			146					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.437G>A	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470693	0.63625	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.39	5.39	0.77823	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.79736	0.4497	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80202	-0.1480	9	0.51188	T	0.08	-26.1424	17.0358	0.86474	0.0:0.0:1.0:0.0	.	146	P49406	RM19_HUMAN	E	146	.	ENSP00000377486:G146E	G	+	2	0	MRPL19	75733253	1.000000	0.71417	0.991000	0.47740	0.424000	0.31475	9.281000	0.95811	2.708000	0.92522	0.650000	0.86243	GGA		0.383	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		59	89	0	0	0	1	0	59	89				
SEZ6	124925	broad.mit.edu	37	17	27285122	27285122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27285122C>A	ENST00000317338.12	-	11	2573	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E715D|SEZ6_ENST00000360295.9_Missense_Mutation_p.E715D|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	715	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CATTGGGGATCTCAGGCAGCT	0.622																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2143-2145)gaG>gaT		seizure related 6 homolog (mouse)							88.0	90.0	89.0					17																	27285122		2079	4201	6280	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27285122C>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2145G>T	17.37:g.27285122C>A	ENSP00000312942:p.Glu715Asp					SEZ6_ENST00000360295.9_Missense_Mutation_p.E715D|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E715D	p.E715D			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		11	2573	-	Lung NSC(42;0.0137)		715			Sushi 3.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2145G>T	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678285	0.68042	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.63096	-0.02;-0.02	5.07	3.01	0.34805	Complement control module (2);Sushi/SCR/CCP (3);	0.058918	0.64402	N	0.000004	T	0.58807	0.2148	L	0.45744	1.44	0.80722	D	1	B;P	0.39624	0.181;0.681	B;P	0.46685	0.074;0.524	T	0.52837	-0.8522	10	0.34782	T	0.22	.	8.6536	0.34049	0.0:0.7611:0.1533:0.0855	.	715;715	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	D	715;715;590;715	ENSP00000403784:E715D;ENSP00000353440:E715D	ENSP00000312942:E590D	E	-	3	2	SEZ6	24309248	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.561000	0.36342	0.622000	0.30249	0.462000	0.41574	GAG		0.622	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			16	58	1	0	2.4624e-09	1	2.98951e-09	16	58				
ELF2	1998	broad.mit.edu	37	4	139981701	139981701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981701C>A	ENST00000394235.2	-	9	1400	c.898G>T	c.(898-900)Gca>Tca	p.A300S	ELF2_ENST00000510408.1_Missense_Mutation_p.A240S|ELF2_ENST00000265495.4_Missense_Mutation_p.A300S|ELF2_ENST00000358635.3_Missense_Mutation_p.A252S|ELF2_ENST00000379550.1_Missense_Mutation_p.A312S|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000379549.2_Missense_Mutation_p.A223S	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTAGTTCCTGCTAAATCTTCA	0.403																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(898-900)Gca>Tca		E74-like factor 2 (ets domain transcription factor)							119.0	111.0	114.0					4																	139981701		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139981701C>A	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.898G>T	4.37:g.139981701C>A	ENSP00000377782:p.Ala300Ser					ELF2_ENST00000379549.2_Missense_Mutation_p.A223S|ELF2_ENST00000358635.3_Missense_Mutation_p.A252S|ELF2_ENST00000379550.1_Missense_Mutation_p.A312S|ELF2_ENST00000510408.1_Missense_Mutation_p.A240S|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000265495.4_Missense_Mutation_p.A300S	p.A300S	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			9	1400	-	all_hematologic(180;0.162)		312						Missense_Mutation	SNP	ENST00000394235.2	37	c.898G>T	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661189	0.29515	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408;ENST00000420916	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.61	2.7	0.31948	.	0.556101	0.20067	N	0.099948	T	0.23766	0.0575	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.001	T	0.10917	-1.0609	9	.	.	.	.	5.8823	0.18862	0.2727:0.5179:0.0:0.2095	.	115;300;223;240;252	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	S	252;300;312;300;223;115;240;223	ENSP00000351458:A252S;ENSP00000377782:A300S;ENSP00000368868:A312S;ENSP00000265495:A300S;ENSP00000368867:A223S;ENSP00000426997:A240S;ENSP00000397796:A223S	.	A	-	1	0	ELF2	140201151	0.041000	0.20044	0.916000	0.36221	0.975000	0.68041	-0.099000	0.11007	1.319000	0.45190	0.655000	0.94253	GCA		0.403	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		10	132	1	0	2.17888e-05	1	2.45068e-05	10	132				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139107024	139107024	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139107024A>C	ENST00000354926.4	+	10	1471	c.1117A>C	c.(1117-1119)Agt>Cgt	p.S373R	LUC7L2_ENST00000541515.3_Missense_Mutation_p.S439R|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S372R|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S370R|C7orf55-LUC7L2_ENST00000482860.1_3'UTR	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		GTCCTATGAGAGTGCTAATGG	0.473																																						ENST00000354926.4																			0											c.(1117-1119)Agt>Cgt									133.0	136.0	135.0					7																	139107024		1942	4134	6076	SO:0001583	missense	0							g.chr7:139107024A>C		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.1117A>C	7.37:g.139107024A>C	ENSP00000347005:p.Ser373Arg					C7orf55-LUC7L2_ENST00000482860.1_3'UTR|LUC7L2_ENST00000541515.3_Missense_Mutation_p.S439R|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S372R|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S370R	p.S373R	NM_016019.3	NP_057103.2					10	1471	+									Missense_Mutation	SNP	ENST00000354926.4	37	c.1117A>C	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458612	0.63401	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.44881	1.55;1.55;1.55;0.91	6.03	6.03	0.97812	.	0.134060	0.64402	D	0.000002	T	0.59649	0.2209	L	0.52573	1.65	0.36838	D	0.887248	D;D;D;D	0.64830	0.99;0.99;0.994;0.99	D;D;D;D	0.71870	0.944;0.944;0.975;0.944	T	0.61691	-0.7011	9	0.56958	D	0.05	-16.1378	16.5724	0.84622	1.0:0.0:0.0:0.0	.	439;370;372;373	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	R	370;439;373;373;372	ENSP00000441604:S370R;ENSP00000440222:S439R;ENSP00000347005:S373R;ENSP00000263545:S372R	ENSP00000263545:S372R	S	+	1	0	LUC7L2	138757564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.399000	0.73248	2.313000	0.78055	0.455000	0.32223	AGT		0.473	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			29	99	0	0	0	1	0	29	99				
CAMSAP2	23271	broad.mit.edu	37	1	200817991	200817991	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200817991T>G	ENST00000236925.4	+	12	2176	c.2127T>G	c.(2125-2127)aaT>aaG	p.N709K	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.N682K|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.N698K			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	709					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GGAAACTGAATCATACCGATG	0.418																																						ENST00000358823.2																			0											c.(2092-2094)aaT>aaG		calmodulin regulated spectrin-associated protein family, member 2							56.0	59.0	58.0					1																	200817991		2202	4299	6501	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817991T>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2127T>G	1.37:g.200817991T>G	ENSP00000236925:p.Asn709Lys					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.N682K|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.N709K	p.N698K	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2364	+			709					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.2094T>G		.	.	.	.	.	.	.	.	.	.	T	15.68	2.904452	0.52333	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.70631	-0.5;-0.5;-0.5	5.29	-2.6	0.06190	.	0.097447	0.64402	D	0.000002	T	0.68559	0.3014	L	0.58101	1.795	0.41050	D	0.985299	D;P;P	0.57899	0.981;0.925;0.907	P;B;B	0.52031	0.688;0.297;0.406	T	0.67448	-0.5668	10	0.21014	T	0.42	-32.8373	12.3262	0.55011	0.0:0.54:0.0:0.46	.	682;709;698	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	K	698;682;709	ENSP00000351684:N698K;ENSP00000416800:N682K;ENSP00000236925:N709K	ENSP00000236925:N709K	N	+	3	2	CAMSAP1L1	199084614	0.990000	0.36364	0.961000	0.40146	0.922000	0.55478	0.388000	0.20735	-0.524000	0.06400	0.482000	0.46254	AAT		0.418	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		11	80	0	0	0	1	0	11	80				
KLHL40	131377	broad.mit.edu	37	3	42727515	42727515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42727515C>T	ENST00000287777.4	+	1	505	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	135	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											ACTGCTTGGCCGTCTTCCGTC	0.642																																						ENST00000287777.4																			0											c.(403-405)gcC>gcT		kelch-like family member 40							108.0	112.0	110.0					3																	42727515		2202	4288	6490	SO:0001819	synonymous_variant	131377							g.chr3:42727515C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.405C>T	3.37:g.42727515C>T							p.A135A	NM_152393.2	NP_689606.2					1	505	+								Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.405C>T	CCDS2703.1																																																																																				0.642	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		41	55	0	0	0	1	0	41	55				
OR5D13	390142	broad.mit.edu	37	11	55541339	55541339	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541339C>A	ENST00000361760.1	+	1	426	c.426C>A	c.(424-426)ctC>ctA	p.L142L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCAGAAGCTCTGTGCTCTTC	0.433																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(424-426)ctC>ctA		olfactory receptor, family 5, subfamily D, member 13							215.0	215.0	215.0					11																	55541339		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541339C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.426C>A	11.37:g.55541339C>A							p.L142L	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	426	+		all_epithelial(135;0.196)	142					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.426C>A	CCDS31507.1																																																																																				0.433	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		14	206	1	0	3.41278e-10	1	4.19267e-10	14	206				
VGLL4	9686	broad.mit.edu	37	3	11643484	11643484	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11643484A>G	ENST00000430365.2	-	2	500	c.95T>C	c.(94-96)cTc>cCc	p.L32P	VGLL4_ENST00000404339.1_Missense_Mutation_p.L31P|VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000273038.3_Missense_Mutation_p.L26P|VGLL4_ENST00000480288.1_5'UTR	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	26			M -> I (in dbSNP:rs2276749). {ECO:0000269|PubMed:16641997, ECO:0000269|Ref.5}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TTCTCCCCTGAGAGCAGCTTC	0.642																																						ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(76-78)cTc>cCc		vestigial like 4 (Drosophila)							39.0	39.0	39.0					3																	11643484		2203	4300	6503	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11643484A>G	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.95T>C	3.37:g.11643484A>G	ENSP00000404251:p.Leu32Pro					VGLL4_ENST00000480288.1_5'UTR|VGLL4_ENST00000430365.2_Missense_Mutation_p.L32P|VGLL4_ENST00000404339.1_Missense_Mutation_p.L31P|VGLL4_ENST00000413604.1_5'UTR	p.L26P	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	3	442	-			26					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000430365.2	37	c.77T>C	CCDS46754.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504714	0.85176	.	.	ENSG00000144560	ENST00000273038;ENST00000430365;ENST00000404339;ENST00000445411;ENST00000418000;ENST00000458499;ENST00000417206;ENST00000419541	T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.66416	0.2787	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70063	-0.4975	10	0.87932	D	0	-46.7692	15.2989	0.73931	1.0:0.0:0.0:0.0	.	32;31;26	G5E9M7;G5E9F4;Q14135	.;.;VGLL4_HUMAN	P	26;32;31;26;26;22;26;26	ENSP00000273038:L26P;ENSP00000404251:L32P;ENSP00000384705:L31P;ENSP00000412923:L26P;ENSP00000394439:L26P;ENSP00000394123:L22P;ENSP00000391932:L26P;ENSP00000395557:L26P	ENSP00000273038:L26P	L	-	2	0	VGLL4	11618484	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.644000	0.91044	2.008000	0.58898	0.533000	0.62120	CTC		0.642	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		7	33	0	0	0	1	0	7	33				
ADAMTSL1	92949	broad.mit.edu	37	9	18795491	18795491	+	Silent	SNP	C	C	T	rs374445427		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18795491C>T	ENST00000380548.4	+	20	4113	c.3774C>T	c.(3772-3774)taC>taT	p.Y1258Y	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTGGGATACGACTCTGTCT	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22380	0.0		0.0	False		,,,				2504	0.0					ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3772-3774)taC>taT		ADAMTS-like 1		C		1,3925		0,1,1962	111.0	109.0	110.0		3774	-1.5	1.0	9		110	1,8299		0,1,4149	no	coding-synonymous	ADAMTSL1	NM_001040272.5		0,2,6111	TT,TC,CC		0.012,0.0255,0.0164		1258/1763	18795491	2,12224	1963	4150	6113	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18795491C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3774C>T	9.37:g.18795491C>T						ADAMTSL1_ENST00000496521.2_3'UTR	p.Y1258Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	20	4113	+			1258			Ig-like C2-type 2.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.3774C>T	CCDS47954.1																																																																																				0.443	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			10	20	0	0	0	1	0	10	20				
CCT8	10694	broad.mit.edu	37	21	30439249	30439249	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30439249A>G	ENST00000286788.4	-	5	731	c.525T>C	c.(523-525)aaT>aaC	p.N175N	CCT8_ENST00000540844.1_Silent_p.N102N|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.N156N	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	175					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GAAATACTTCATTACCATATT	0.333																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(523-525)aaT>aaC		chaperonin containing TCP1, subunit 8 (theta)							95.0	92.0	93.0					21																	30439249		2203	4300	6503	SO:0001819	synonymous_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30439249A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.525T>C	21.37:g.30439249A>G						CCT8_ENST00000540844.1_Silent_p.N102N|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.N156N	p.N175N	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			5	731	-			175					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.525T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	8.457	0.854442	0.17106	.	.	ENSG00000156261	ENST00000431234	.	.	.	5.73	-2.08	0.07254	.	.	.	.	.	T	0.63153	0.2487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61978	-0.6951	4	.	.	.	-12.0179	12.946	0.58373	0.4391:0.0:0.5609:0.0	.	.	.	.	T	167	.	.	M	-	2	0	CCT8	29361120	0.996000	0.38824	0.614000	0.29051	0.931000	0.56810	0.446000	0.21694	-0.142000	0.11354	-0.290000	0.09829	ATG		0.333	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			16	73	0	0	0	1	0	16	73				
PACSIN3	29763	broad.mit.edu	37	11	47201080	47201080	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47201080T>C	ENST00000539589.1	-	7	1003	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.M221V|ARFGAP2_ENST00000524782.1_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	221	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ATGTCCTCCATGTAGCGTGGA	0.577											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(661-663)Atg>Gtg		protein kinase C and casein kinase substrate in neurons 3							80.0	85.0	83.0					11																	47201080		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47201080T>C	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.661A>G	11.37:g.47201080T>C	ENSP00000440945:p.Met221Val		OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PACSIN3_ENST00000298838.6_Missense_Mutation_p.M221V	p.M221V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			7	1003	-			221					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.661A>G	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266780	0.80358	.	.	ENSG00000165912	ENST00000298838;ENST00000539589;ENST00000528462;ENST00000530513;ENST00000528201	T;T;T;T;T	0.41758	0.99;0.99;0.99;2.58;1.03	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.65975	2.015	0.80722	D	1	P	0.37708	0.606	P	0.44422	0.449	T	0.39981	-0.9587	10	0.15952	T	0.53	-34.1653	15.4304	0.75092	0.0:0.0:0.0:1.0	.	221	Q9UKS6	PACN3_HUMAN	V	221;221;221;1;1	ENSP00000298838:M221V;ENSP00000440945:M221V;ENSP00000437252:M221V;ENSP00000431924:M1V;ENSP00000434521:M1V	ENSP00000298838:M221V	M	-	1	0	PACSIN3	47157656	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.038000	0.88943	2.052000	0.61016	0.459000	0.35465	ATG		0.577	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		5	56	0	0	0	1	0	5	56				
CYP51A1	1595	broad.mit.edu	37	7	91758259	91758259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91758259C>A	ENST00000003100.8	-	3	568	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.D30Y	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	129					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTGTAGACATCTTCTGCATTC	0.413																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(403-405)Gat>Tat		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						178.0	161.0	166.0					7																	91758259		2203	4300	6503	SO:0001583	missense	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91758259C>A	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.403G>T	7.37:g.91758259C>A	ENSP00000003100:p.Asp135Tyr					LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.D30Y	p.D135Y	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		3	568	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		129					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	ENST00000003100.8	37	c.403G>T	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887000	0.91814	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	T;T	0.68331	-0.32;-0.32	5.2	5.2	0.72013	.	0.088086	0.85682	D	0.000000	D	0.83801	0.5333	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69307	0.932;0.963	D	0.86392	0.1736	10	0.87932	D	0	.	19.1619	0.93537	0.0:1.0:0.0:0.0	.	75;129	B3KRC6;Q16850	.;CP51A_HUMAN	Y	135;75;30	ENSP00000003100:D135Y;ENSP00000406757:D30Y	ENSP00000003100:D135Y	D	-	1	0	CYP51A1	91596195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.597000	0.87782	0.650000	0.86243	GAT		0.413	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			69	188	1	0	3.12118e-38	1	4.20642e-38	69	188				
APPBP2	10513	broad.mit.edu	37	17	58538038	58538038	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58538038T>G	ENST00000083182.3	-	9	1334	c.1047A>C	c.(1045-1047)aaA>aaC	p.K349N	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	349					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CATTGTCAAATTTCCCAGAGC	0.368																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(1045-1047)aaA>aaC		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							87.0	78.0	81.0					17																	58538038		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58538038T>G	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1047A>C	17.37:g.58538038T>G	ENSP00000083182:p.Lys349Asn					APPBP2_ENST00000592995.1_5'UTR	p.K349N	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		9	1334	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		349					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.1047A>C	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.234196	0.22626	.	.	ENSG00000062725	ENST00000083182	D	0.84146	-1.81	5.93	3.74	0.42951	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	N	0.08118	0	0.58432	D	0.999998	P	0.45126	0.851	P	0.58391	0.838	T	0.78795	-0.2064	10	0.49607	T	0.09	-16.4925	8.449	0.32860	0.0:0.2766:0.0:0.7234	.	349	Q92624	APBP2_HUMAN	N	349	ENSP00000083182:K349N	ENSP00000083182:K349N	K	-	3	2	APPBP2	55892820	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.452000	0.21795	0.514000	0.28300	-0.256000	0.11100	AAA		0.368	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		3	49	0	0	0	1	0	3	49				
CDC45	8318	broad.mit.edu	37	22	19502298	19502298	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19502298G>A	ENST00000407835.1	+	15	1500	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	CDC45_ENST00000404724.3_Missense_Mutation_p.G369D|CDC45_ENST00000263201.1_Missense_Mutation_p.G415D|CDC45_ENST00000437685.2_Missense_Mutation_p.G447D			O75419	CDC45_HUMAN	cell division cycle 45	415					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTGTACCATGGCCTGGAACTC	0.537																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1243-1245)gGc>gAc		cell division cycle 45							93.0	79.0	84.0					22																	19502298		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19502298G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1244G>A	22.37:g.19502298G>A	ENSP00000385240:p.Gly415Asp					CDC45_ENST00000404724.3_Missense_Mutation_p.G369D|CDC45_ENST00000437685.2_Missense_Mutation_p.G447D|CDC45_ENST00000263201.1_Missense_Mutation_p.G415D	p.G415D			O75419	CDC45_HUMAN			15	1500	+			415					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.1244G>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369024	0.82463	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.65928	-0.6049	10	0.87932	D	0	-37.7856	20.6634	0.99662	0.0:0.0:1.0:0.0	.	447;410;369;447;415	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	D	415;447;415;369	ENSP00000385240:G415D;ENSP00000405726:G447D;ENSP00000263201:G415D;ENSP00000384978:G369D	ENSP00000263201:G415D	G	+	2	0	CDC45	17882298	1.000000	0.71417	0.999000	0.59377	0.220000	0.24768	9.377000	0.97184	2.894000	0.99253	0.655000	0.94253	GGC		0.537	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		5	33	0	0	0	1	0	5	33				
VEZT	55591	broad.mit.edu	37	12	95650977	95650977	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95650977T>C	ENST00000436874.1	+	3	325	c.220T>C	c.(220-222)Tct>Cct	p.S74P	VEZT_ENST00000261219.6_Missense_Mutation_p.S26P|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	74					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GATTTTTTTTTCTCAGTGCAA	0.343																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(220-222)Tct>Cct		vezatin, adherens junctions transmembrane protein							99.0	94.0	96.0					12																	95650977		1823	4077	5900	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95650977T>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.220T>C	12.37:g.95650977T>C	ENSP00000410083:p.Ser74Pro					VEZT_ENST00000261219.6_Missense_Mutation_p.S26P|VEZT_ENST00000356859.4_3'UTR	p.S74P	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			3	325	+			74					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.220T>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650228	0.29336	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000551311;ENST00000397792;ENST00000397796	T;T;T;T	0.45276	2.48;2.52;0.9;2.52	5.58	0.409	0.16382	.	0.800991	0.12409	N	0.471467	T	0.28433	0.0703	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.19778	-1.0295	10	0.30854	T	0.27	-11.3762	6.2999	0.21107	0.0:0.3072:0.1313:0.5614	.	74;74;26;26	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	P	74;26;93;65;26;26;74	ENSP00000410083:S74P;ENSP00000261219:S26P;ENSP00000449701:S93P;ENSP00000380894:S26P	ENSP00000261219:S26P	S	+	1	0	VEZT	94175108	0.913000	0.31002	0.172000	0.22920	0.957000	0.61999	0.320000	0.19540	-0.164000	0.10927	0.383000	0.25322	TCT		0.343	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		6	11	0	0	0	1	0	6	11				
ITSN1	6453	broad.mit.edu	37	21	35208937	35208937	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35208937G>A	ENST00000381318.3	+	29	3949		c.e29+1		ITSN1_ENST00000399353.1_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCAGCAATGTAAGTGCCCT	0.507																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.e29+1		intersectin 1 (SH3 domain protein)							90.0	81.0	84.0					21																	35208937		2203	4300	6503	SO:0001630	splice_region_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35208937G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3661+1G>A	21.37:g.35208937G>A						ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Splice_Site		NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			29	3949	+								A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Splice_Site	SNP	ENST00000381318.3	37		CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456766	0.63401	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITSN1	34130807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.278000	0.95766	2.059000	0.61396	0.637000	0.83480	.		0.507	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	Intron	16	41	0	0	0	1	0	16	41				
GABRA1	2554	broad.mit.edu	37	5	161322744	161322744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161322744C>T	ENST00000428797.2	+	10	1284	c.929C>T	c.(928-930)gCa>gTa	p.A310V	GABRA1_ENST00000437025.2_Missense_Mutation_p.A310V|GABRA1_ENST00000444819.1_Missense_Mutation_p.A310V|GABRA1_ENST00000420560.1_Missense_Mutation_p.A310V|GABRA1_ENST00000023897.6_Missense_Mutation_p.A310V|GABRA1_ENST00000393943.4_Missense_Mutation_p.A310V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	310					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTGGCTTATGCAACAGCTATG	0.413																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(928-930)gCa>gTa		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						244.0	198.0	213.0					5																	161322744		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161322744C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.929C>T	5.37:g.161322744C>T	ENSP00000393097:p.Ala310Val					GABRA1_ENST00000420560.1_Missense_Mutation_p.A310V|GABRA1_ENST00000023897.6_Missense_Mutation_p.A310V|GABRA1_ENST00000444819.1_Missense_Mutation_p.A310V|GABRA1_ENST00000393943.4_Missense_Mutation_p.A310V|GABRA1_ENST00000437025.2_Missense_Mutation_p.A310V	p.A310V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1284	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	310					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.929C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394203	0.83011	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.47	5.47	0.80525	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	N	0.11023	0.085	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.67233	-0.5722	10	0.02654	T	1	.	19.3674	0.94469	0.0:1.0:0.0:0.0	.	310	P14867	GBRA1_HUMAN	V	310	ENSP00000023897:A310V;ENSP00000393097:A310V;ENSP00000377517:A310V;ENSP00000415441:A310V;ENSP00000408041:A310V;ENSP00000414232:A310V	ENSP00000023897:A310V	A	+	2	0	GABRA1	161255322	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	7.726000	0.84824	2.567000	0.86603	0.650000	0.86243	GCA		0.413	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		40	49	0	0	0	1	0	40	49				
PEBP4	157310	broad.mit.edu	37	8	22584731	22584731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22584731G>A	ENST00000256404.6	-	5	451	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	120						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)		p.G120G(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGGTCGGCGCCCTGAAAGA	0.572																																						ENST00000256404.6																			1	Substitution - coding silent(1)	p.G120G(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10						c.(358-360)ggC>ggT		phosphatidylethanolamine-binding protein 4							53.0	60.0	58.0					8																	22584731		1990	4147	6137	SO:0001819	synonymous_variant	157310					lysosome		g.chr8:22584731G>A	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.360C>T	8.37:g.22584731G>A						RP11-459E5.1_ENST00000523627.1_RNA	p.G120G	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	5	451	-		Prostate(55;0.0453)|Breast(100;0.103)	120					Q5EVA1|Q8WW74	Silent	SNP	ENST00000256404.6	37	c.360C>T	CCDS43724.1																																																																																				0.572	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		11	23	0	0	0	1	0	11	23				
ZSWIM5	57643	broad.mit.edu	37	1	45501950	45501950	+	Missense_Mutation	SNP	G	G	T	rs373322583		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45501950G>T	ENST00000359600.5	-	9	2121	c.1916C>A	c.(1915-1917)cCt>cAt	p.P639H	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	639						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGTACACAGGGGGTCTGCT	0.478																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1915-1917)cCt>cAt		zinc finger, SWIM-type containing 5							56.0	55.0	55.0					1																	45501950		1931	4143	6074	SO:0001583	missense	57643						zinc ion binding	g.chr1:45501950G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1916C>A	1.37:g.45501950G>T	ENSP00000352614:p.Pro639His						p.P639H	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			9	2121	-	Acute lymphoblastic leukemia(166;0.155)		639					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.1916C>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	g	18.31	3.596667	0.66332	.	.	ENSG00000162415	ENST00000359600	T	0.46063	0.88	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.39898	1.24	0.80722	D	1	P	0.51147	0.942	P	0.52217	0.693	T	0.40136	-0.9579	10	0.45353	T	0.12	-10.1596	19.649	0.95793	0.0:0.0:1.0:0.0	.	639	Q9P217	ZSWM5_HUMAN	H	639	ENSP00000352614:P639H	ENSP00000352614:P639H	P	-	2	0	ZSWIM5	45274537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.366000	0.73095	2.826000	0.97356	0.655000	0.94253	CCT		0.478	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		17	41	1	0	1.5739e-10	1	1.9432e-10	17	41				
MMP24	10893	broad.mit.edu	37	20	33839824	33839824	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33839824G>T	ENST00000246186.6	+	3	597	c.512G>T	c.(511-513)aGc>aTc	p.S171I	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	171					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	ATCACCTACAGGTGCTTCGAC	0.562																																						ENST00000246186.6																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.e3+1		matrix metallopeptidase 24 (membrane-inserted)							124.0	132.0	129.0					20																	33839824		2046	4184	6230	SO:0001630	splice_region_variant	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33839824G>T	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.512+1G>T	20.37:g.33839824G>T						MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	p.S171_splice	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	597	+			171					B7ZBG8|Q9H440	Splice_Site	SNP	ENST00000246186.6	37	c.512_splice	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384567	0.82792	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.22336	1.96	5.04	5.04	0.67666	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64829	-0.6315	10	0.72032	D	0.01	.	17.5367	0.87834	0.0:0.0:1.0:0.0	.	171	Q9Y5R2	MMP24_HUMAN	I	171;119	ENSP00000246186:S171I	ENSP00000246186:S171I	S	+	2	0	MMP24	33303240	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.664000	0.83830	2.608000	0.88229	0.655000	0.94253	AGC		0.562	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690	Missense_Mutation	5	41	1	0	0.000602214	1	0.000649039	5	41				
KIDINS220	57498	broad.mit.edu	37	2	8957755	8957755	+	Missense_Mutation	SNP	C	C	T	rs368435770		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8957755C>T	ENST00000256707.3	-	4	480	c.299G>A	c.(298-300)cGt>cAt	p.R100H	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R100H|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R58H|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R100H|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R100H	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	100					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACCATATCACGGTGCTCCAA	0.328																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(298-300)cGt>cAt		kinase D-interacting substrate, 220kDa		C	HIS/ARG	0,3750		0,0,1875	166.0	149.0	154.0		299	4.7	1.0	2		154	2,8206		0,2,4102	no	missense	KIDINS220	NM_020738.2	29	0,2,5977	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging	100/1772	8957755	2,11956	1875	4104	5979	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8957755C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.299G>A	2.37:g.8957755C>T	ENSP00000256707:p.Arg100His					KIDINS220_ENST00000473731.1_Missense_Mutation_p.R100H|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R100H|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R100H|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R58H	p.R100H	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			4	480	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		100					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.299G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411702	0.83340	0.0	2.44E-4	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.25;-0.33;-0.33;-0.33	5.77	4.71	0.59529	Ankyrin repeat-containing domain (4);	0.050932	0.85682	D	0.000000	T	0.72112	0.3420	L	0.35593	1.075	0.53688	D	0.999975	P;P;D	0.58970	0.882;0.921;0.984	P;P;D	0.66497	0.603;0.832;0.944	T	0.74481	-0.3651	10	0.72032	D	0.01	.	14.6194	0.68574	0.0:0.9162:0.0:0.0838	.	100;58;100	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	H	100;100;58;100;100;100	ENSP00000256707:R100H;ENSP00000411849:R100H;ENSP00000414923:R58H;ENSP00000418974:R100H;ENSP00000419964:R100H;ENSP00000319947:R100H	ENSP00000256707:R100H	R	-	2	0	KIDINS220	8875206	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	4.993000	0.63895	2.723000	0.93209	0.655000	0.94253	CGT		0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		4	95	0	0	0	1	0	4	95				
TMEM92	162461	broad.mit.edu	37	17	48356668	48356668	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48356668G>A	ENST00000300433.3	+	6	589	c.479G>A	c.(478-480)tGa>tAa	p.*160*	TMEM92_ENST00000507382.1_Silent_p.*160*|RP11-893F2.9_ENST00000508851.1_RNA	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	0						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCGGCCTTCTGAGTCACCTCC	0.607																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(478-480)tGa>tAa		transmembrane protein 92							67.0	72.0	71.0					17																	48356668		2203	4300	6503	SO:0001819	synonymous_variant	162461					integral to membrane		g.chr17:48356668G>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.479G>A	17.37:g.48356668G>A						TMEM92_ENST00000507382.1_Silent_p.*160*	p.*160*	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN			6	589	+			0					Q8NBF0	Silent	SNP	ENST00000300433.3	37	c.479G>A	CCDS11562.1																																																																																				0.607	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		7	99	0	0	0	1	0	7	99				
ABCC10	89845	broad.mit.edu	37	6	43415025	43415025	+	Missense_Mutation	SNP	C	C	T	rs144841064	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43415025C>T	ENST00000372530.4	+	17	3799	c.3584C>T	c.(3583-3585)aCg>aTg	p.T1195M	ABCC10_ENST00000244533.3_Missense_Mutation_p.T1167M	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1195	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTGTCCCTGACGGGCCTGCTC	0.627																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3499-3501)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	93.0	87.0	89.0		3584,3500	5.3	1.0	6	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1195/1493,1167/1465	43415025	1,13005	2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415025C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3584C>T	6.37:g.43415025C>T	ENSP00000361608:p.Thr1195Met					ABCC10_ENST00000372530.4_Missense_Mutation_p.T1195M	p.T1167M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		15	3859	+	all_lung(25;0.00536)		1195			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3500C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430613	0.83776	2.27E-4	0.0	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90069	-2.61;-2.61	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.190602	0.44483	D	0.000460	D	0.93916	0.8053	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.975	D	0.93701	0.7015	10	0.54805	T	0.06	-48.8383	19.0508	0.93043	0.0:1.0:0.0:0.0	.	1167;1195	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	M	1195;1167	ENSP00000361608:T1195M;ENSP00000244533:T1167M	ENSP00000244533:T1167M	T	+	2	0	ABCC10	43523003	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	5.920000	0.70017	2.500000	0.84329	0.591000	0.81541	ACG		0.627	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		33	60	0	0	0	1	0	33	60				
SYNE1	23345	broad.mit.edu	37	6	152792774	152792774	+	Silent	SNP	G	G	A	rs369178017		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152792774G>A	ENST00000367255.5	-	16	2191	c.1590C>T	c.(1588-1590)taC>taT	p.Y530Y	SYNE1_ENST00000466159.2_Silent_p.Y530Y|SYNE1_ENST00000367253.4_Silent_p.Y530Y|SYNE1_ENST00000367248.3_Silent_p.Y520Y|SYNE1_ENST00000265368.4_Silent_p.Y530Y|SYNE1_ENST00000341594.5_Silent_p.Y537Y|SYNE1_ENST00000448038.1_Silent_p.Y537Y|SYNE1_ENST00000495090.2_Silent_p.Y97Y|SYNE1_ENST00000423061.1_Silent_p.Y537Y|SYNE1_ENST00000413186.2_Silent_p.Y530Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	530					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCCTCCCGTACTTAATGA	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1588-1590)taC>taT		spectrin repeat containing, nuclear envelope 1		G	,	0,4406		0,0,2203	152.0	147.0	149.0		1611,1590	-6.0	0.8	6		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	537/8750,530/8798	152792774	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152792774G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1590C>T	6.37:g.152792774G>A		HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Silent_p.Y530Y|SYNE1_ENST00000466159.2_Silent_p.Y530Y|SYNE1_ENST00000341594.5_Silent_p.Y537Y|SYNE1_ENST00000265368.4_Silent_p.Y530Y|SYNE1_ENST00000413186.2_Silent_p.Y530Y|SYNE1_ENST00000448038.1_Silent_p.Y537Y|SYNE1_ENST00000367248.3_Silent_p.Y520Y|SYNE1_ENST00000423061.1_Silent_p.Y537Y|SYNE1_ENST00000495090.2_Silent_p.Y97Y	p.Y530Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	16	2191	-		Ovarian(120;0.0955)	530					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.1590C>T	CCDS5236.2																																																																																				0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		36	69	0	0	0	1	0	36	69				
GNL3	26354	broad.mit.edu	37	3	52724667	52724667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724667A>G	ENST00000418458.1	+	7	774	c.601A>G	c.(601-603)Aca>Gca	p.T201A	SNORD19_ENST00000410413.1_RNA|SNORD19_ENST00000391191.1_RNA|SNORD19B_ENST00000516978.1_RNA|SNORD19B_ENST00000459623.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.T189A|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	201	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGAATTGCCAACAGTGGTGTT	0.388																																						ENST00000394799.2																			0				breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12						c.(565-567)Aca>Gca		guanine nucleotide binding protein-like 3 (nucleolar)							177.0	199.0	192.0					3																	52724667		2203	4300	6503	SO:0001583	missense	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52724667A>G	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.601A>G	3.37:g.52724667A>G	ENSP00000395772:p.Thr201Ala					GNL3_ENST00000418458.1_Missense_Mutation_p.T201A	p.T189A	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	7	775	+			201					B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	ENST00000418458.1	37	c.565A>G	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559930	0.86335	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.14022	2.54;2.54	6.17	6.17	0.99709	.	0.094954	0.64402	D	0.000001	T	0.26340	0.0643	L	0.53249	1.67	0.58432	D	0.999995	P	0.46220	0.874	P	0.51324	0.666	T	0.00158	-1.1976	10	0.46703	T	0.11	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	201	Q9BVP2	GNL3_HUMAN	A	201;189	ENSP00000395772:T201A;ENSP00000378278:T189A	ENSP00000378278:T189A	T	+	1	0	GNL3	52699707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.726000	0.54977	2.371000	0.80710	0.533000	0.62120	ACA		0.388	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		11	275	0	0	0	1	0	11	275				
FKBP15	23307	broad.mit.edu	37	9	115932853	115932853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115932853C>T	ENST00000238256.3	-	25	2832	c.2715G>A	c.(2713-2715)gaG>gaA	p.E905E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	905					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGTAAGATTCCTCCAGCTCAA	0.438																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(2713-2715)gaG>gaA		FK506 binding protein 15, 133kDa							203.0	195.0	198.0					9																	115932853		1937	4148	6085	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115932853C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2715G>A	9.37:g.115932853C>T							p.E905E	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			25	2832	-			905					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.2715G>A	CCDS48007.1																																																																																				0.438	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		32	86	0	0	0	1	0	32	86				
SLC25A46	91137	broad.mit.edu	37	5	110082040	110082040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110082040A>C	ENST00000355943.3	+	4	581	c.455A>C	c.(454-456)aAa>aCa	p.K152T	SLC25A46_ENST00000509442.2_Missense_Mutation_p.K61T|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.K152T|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K6T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	152					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTTTCAACAAAACTCAGGTG	0.289																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(454-456)aAa>aCa		solute carrier family 25, member 46							77.0	86.0	82.0					5																	110082040		2201	4293	6494	SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110082040A>C	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.455A>C	5.37:g.110082040A>C	ENSP00000348211:p.Lys152Thr					SLC25A46_ENST00000504098.1_Missense_Mutation_p.K6T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K61T|SLC25A46_ENST00000447245.2_Missense_Mutation_p.K152T|SLC25A46_ENST00000513807.1_5'UTR	p.K152T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	4	581	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	152					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.455A>C	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287311	0.59867	.	.	ENSG00000164209	ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.8	5.8	0.92144	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	L	0.58669	1.825	0.58432	D	0.999999	P;P	0.48764	0.915;0.915	B;P	0.45232	0.23;0.474	T	0.82641	-0.0357	10	0.54805	T	0.06	-15.3717	15.8049	0.78491	1.0:0.0:0.0:0.0	.	61;152	B4DY98;Q96AG3	.;S2546_HUMAN	T	61;152;6;152;6	ENSP00000424136:K61T;ENSP00000348211:K152T;ENSP00000399717:K152T;ENSP00000425708:K6T	ENSP00000348211:K152T	K	+	2	0	SLC25A46	110109939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.229000	0.89791	2.212000	0.71576	0.528000	0.53228	AAA		0.289	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		7	58	0	0	0	1	0	7	58				
A2M	2	broad.mit.edu	37	12	9225448	9225448	+	Missense_Mutation	SNP	T	T	C	rs376118057		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9225448T>C	ENST00000318602.7	-	30	4083	c.3776A>G	c.(3775-3777)cAt>cGt	p.H1259R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1259					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGACAGAGCATGGAGAGCCAC	0.478																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3775-3777)cAt>cGt		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						47.0	47.0	47.0					12																	9225448		2061	4244	6305	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225448T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3776A>G	12.37:g.9225448T>C	ENSP00000323929:p.His1259Arg						p.H1259R	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			30	4083	-			1259					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3776A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431870	0.83776	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.33438	1.41	5.88	5.88	0.94601	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.318671	0.32868	N	0.005558	T	0.45357	0.1338	L	0.58925	1.835	0.50039	D	0.99984	P	0.38535	0.635	P	0.48982	0.597	T	0.38972	-0.9636	10	0.66056	D	0.02	.	15.958	0.79902	0.0:0.0:0.0:1.0	.	1259	P01023	A2MG_HUMAN	R	1259;1274	ENSP00000323929:H1259R	ENSP00000323929:H1259R	H	-	2	0	A2M	9116715	1.000000	0.71417	0.914000	0.36105	0.968000	0.65278	8.029000	0.88807	2.243000	0.73865	0.528000	0.53228	CAT		0.478	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		5	21	0	0	0	1	0	5	21				
CDC37	11140	broad.mit.edu	37	19	10503942	10503942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503942A>G	ENST00000222005.2	-	6	955	c.902T>C	c.(901-903)cTc>cCc	p.L301P		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	301					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CACCTCAGGGAGGGACTCGTA	0.711																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(901-903)cTc>cCc		cell division cycle 37							20.0	22.0	21.0					19																	10503942		2201	4298	6499	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10503942A>G	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.902T>C	19.37:g.10503942A>G	ENSP00000222005:p.Leu301Pro						p.L301P	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	6	955	-			301					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.902T>C	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	a	14.68	2.608026	0.46527	.	.	ENSG00000105401	ENST00000222005	T	0.58210	0.35	3.64	3.64	0.41730	Cdc37, C-terminal (1);	0.083492	0.49305	D	0.000143	T	0.71921	0.3397	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.98;0.981	T	0.76176	-0.3055	10	0.87932	D	0	.	10.5241	0.44936	1.0:0.0:0.0:0.0	.	301;33	Q16543;A1L0W4	CDC37_HUMAN;.	P	301	ENSP00000222005:L301P	ENSP00000222005:L301P	L	-	2	0	CDC37	10364942	1.000000	0.71417	0.734000	0.30879	0.158000	0.22134	6.437000	0.73421	1.445000	0.47624	0.255000	0.18592	CTC		0.711	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		3	18	0	0	0	1	0	3	18				
LOC344967	344967	broad.mit.edu	37	4	40045275	40045275	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40045275G>A	ENST00000381811.2	-	0	874					NR_027277.1																						CGTTCCTCCAGTTGGTCTCCA	0.592																																						ENST00000381811.2																			0																																																			0							g.chr4:40045275G>A																													4.37:g.40045275G>A								NR_027277.1						0	874	-									RNA	SNP	ENST00000381811.2	37																																																																																						0.592	RP11-333E13.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361278.1			13	19	0	0	0	1	0	13	19				
EVI2A	2123	broad.mit.edu	37	17	29645983	29645983	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29645983G>T	ENST00000462804.2	-	2	448	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|EVI2A_ENST00000247270.3_Missense_Mutation_p.L40M|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.L17M|NF1_ENST00000358273.4_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	17					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTCATCAGAAAGGCAAGA	0.398																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(118-120)Ctg>Atg		ecotropic viral integration site 2A							206.0	197.0	200.0					17																	29645983		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645983G>T	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.49C>A	17.37:g.29645983G>T	ENSP00000420557:p.Leu17Met					NF1_ENST00000581113.2_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.L17M|EVI2A_ENST00000462804.2_Missense_Mutation_p.L17M|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.L40M	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	454	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	17					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.118C>A	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403899	0.62288	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.41	3.39	0.38822	.	0.511328	0.17996	N	0.155047	T	0.74298	0.3698	M	0.62723	1.935	0.80722	D	1	D;D	0.63046	0.992;0.989	D;D	0.65323	0.934;0.919	T	0.72367	-0.4315	9	0.39692	T	0.17	.	15.1355	0.72562	0.0:0.268:0.732:0.0	.	17;40	P22794;P22794-2	EVI2A_HUMAN;.	M	17;13;17;40	.	ENSP00000247270:L40M	L	-	1	2	EVI2A	26670109	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	2.085000	0.41634	0.633000	0.30452	0.655000	0.94253	CTG		0.398	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		75	172	1	0	1.15413e-51	1	1.56096e-51	75	172				
LPHN2	23266	broad.mit.edu	37	1	82452652	82452652	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82452652C>T	ENST00000370728.1	+	24	4209	c.3564C>T	c.(3562-3564)aaC>aaT	p.N1188N	LPHN2_ENST00000370723.1_Silent_p.N1190N|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370725.1_Silent_p.N1203N|LPHN2_ENST00000394879.1_Silent_p.N1190N|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370721.1_Silent_p.N1113N|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370717.2_Silent_p.N1203N			O95490	LPHN2_HUMAN	latrophilin 2	1188					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACCCCTATAACACATTGCTCG	0.388																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3562-3564)aaC>aaT		latrophilin 2							105.0	102.0	103.0					1																	82452652		876	1991	2867	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82452652C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3564C>T	1.37:g.82452652C>T						LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370717.2_Silent_p.N1203N|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370725.1_Silent_p.N1203N|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370721.1_Silent_p.N1113N|LPHN2_ENST00000370723.1_Silent_p.N1190N|LPHN2_ENST00000394879.1_Silent_p.N1190N	p.N1188N			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	24	4209	+			1188					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.3564C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.758|2.758	-0.258511|-0.258511	0.05791|0.05791	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000449420	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|T	0.70954|0.70954	0.3283|0.3283	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68922|0.68922	-0.5281|-0.5281	4|4	.|.	.|.	.|.	.|.	19.6809|19.6809	0.95962|0.95962	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	Y|I	194|1080	.|.	.|.	H|T	+|+	1|2	0|0	LPHN2|LPHN2	82225240|82225240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.727000|5.727000	0.68523|0.68523	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.388	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		23	62	0	0	0	1	0	23	62				
ACTR3	10096	broad.mit.edu	37	2	114691959	114691959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114691959C>A	ENST00000263238.2	+	6	856	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACTR3_ENST00000536059.1_Missense_Mutation_p.P117H|ACTR3_ENST00000535589.2_Missense_Mutation_p.P128H	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	179					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CATGTCATTCCTGTGGTAAGG	0.378																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(535-537)cCt>cAt		ARP3 actin-related protein 3 homolog (yeast)							225.0	202.0	210.0					2																	114691959		2203	4300	6503	SO:0001583	missense	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114691959C>A	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.536C>A	2.37:g.114691959C>A	ENSP00000263238:p.Pro179His					ACTR3_ENST00000535589.2_Missense_Mutation_p.P128H|ACTR3_ENST00000536059.1_Missense_Mutation_p.P117H	p.P179H	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN			6	856	+			179					P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	c.536C>A	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918435	0.92249	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	D;D;D	0.96716	-4.1;-4.1;-4.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.98903	1.0777	10	0.87932	D	0	-17.292	18.743	0.91780	0.0:1.0:0.0:0.0	.	117;179	F5H3P5;P61158	.;ARP3_HUMAN	H	179;117;50;128	ENSP00000263238:P179H;ENSP00000445257:P117H;ENSP00000444987:P128H	ENSP00000263238:P179H	P	+	2	0	ACTR3	114408429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.651000	0.90000	0.585000	0.79938	CCT		0.378	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		8	140	1	0	1.26484e-09	1	1.54084e-09	8	140				
ALS2CL	259173	broad.mit.edu	37	3	46722850	46722850	+	Missense_Mutation	SNP	C	C	T	rs117431144		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46722850C>T	ENST00000318962.4	-	13	1405	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	441					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAATCCGTGCCGCAGGCCCTC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18747	0.001		0.0	False		,,,				2504	0.0					ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1321-1323)cGg>cAg		ALS2 C-terminal like							93.0	97.0	96.0					3																	46722850		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46722850C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1322G>A	3.37:g.46722850C>T	ENSP00000313670:p.Arg441Gln					ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441Q	p.R441Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	13	1405	-			441					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1322G>A	CCDS2743.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.5	5.008044	0.93287	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.48201	0.82;0.82	4.26	4.26	0.50523	.	0.343591	0.24454	N	0.038384	T	0.64843	0.2635	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.65516	-0.6149	10	0.44086	T	0.13	.	14.2002	0.65699	0.0:1.0:0.0:0.0	.	441	Q60I27	AL2CL_HUMAN	Q	441	ENSP00000313670:R441Q;ENSP00000413223:R441Q	ENSP00000313670:R441Q	R	-	2	0	ALS2CL	46697854	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.211000	0.72182	2.200000	0.70718	0.455000	0.32223	CGG		0.642	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		33	63	0	0	0	1	0	33	63				
VDR	7421	broad.mit.edu	37	12	48251023	48251023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48251023G>A	ENST00000395324.2	-	6	740	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	VDR_ENST00000535672.1_Missense_Mutation_p.R126C|VDR_ENST00000229022.3_Missense_Mutation_p.R158C|VDR_ENST00000550325.1_Missense_Mutation_p.R208C|VDR_ENST00000549336.1_Missense_Mutation_p.R158C			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	158	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTCACACGAACTGGAGGC	0.552																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(472-474)Cgt>Tgt		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						95.0	80.0	85.0					12																	48251023		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48251023G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.472C>T	12.37:g.48251023G>A	ENSP00000378734:p.Arg158Cys					VDR_ENST00000550325.1_Missense_Mutation_p.R208C|VDR_ENST00000535672.1_Missense_Mutation_p.R126C|VDR_ENST00000549336.1_Missense_Mutation_p.R158C|VDR_ENST00000395324.2_Missense_Mutation_p.R158C	p.R158C	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	7	753	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	158			Hinge.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.472C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444962	0.63178	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653	D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76	4.59	4.59	0.56863	Nuclear hormone receptor, ligand-binding (1);	0.333015	0.29892	N	0.010923	D	0.96769	0.8945	M	0.62723	1.935	0.53005	D	0.999969	D;D;D	0.89917	0.972;0.997;1.0	P;P;D	0.78314	0.677;0.836;0.991	D	0.96502	0.9372	10	0.59425	D	0.04	.	13.0687	0.59048	0.0:0.0:1.0:0.0	.	126;158;208	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	C	158;158;158;208;126;158	ENSP00000378734:R158C;ENSP00000229022:R158C;ENSP00000449573:R158C;ENSP00000447173:R208C;ENSP00000442145:R126C;ENSP00000448659:R158C	ENSP00000229022:R158C	R	-	1	0	VDR	46537290	0.840000	0.29493	0.300000	0.25030	0.086000	0.17979	4.177000	0.58276	2.538000	0.85594	0.484000	0.47621	CGT		0.552	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			11	24	0	0	0	1	0	11	24				
SLC23A2	9962	broad.mit.edu	37	20	4837827	4837827	+	Missense_Mutation	SNP	G	G	A	rs139545711		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4837827G>A	ENST00000379333.1	-	17	2136	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	SLC23A2_ENST00000338244.1_Missense_Mutation_p.R582W|SLC23A2_ENST00000424750.2_Missense_Mutation_p.R468W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	582					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCCATTTCCGGATTCCTCTT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		20758	0.001		0.0	False		,,,				2504	0.0					ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1744-1746)Cgg>Tgg		solute carrier family 23 (ascorbic acid transporter), member 2		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	163.0	148.0	153.0		1744,1744	-7.3	0.5	20	dbSNP_134	153	1,8599		0,1,4299	yes	missense,missense	SLC23A2	NM_005116.5,NM_203327.1	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	582/651,582/651	4837827	2,13004	2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4837827G>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1744C>T	20.37:g.4837827G>A	ENSP00000368637:p.Arg582Trp					SLC23A2_ENST00000338244.1_Missense_Mutation_p.R582W|SLC23A2_ENST00000424750.2_Missense_Mutation_p.R468W	p.R582W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			17	2136	-			582					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1744C>T	CCDS13085.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.75	3.209497	0.58343	2.27E-4	1.16E-4	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.18810	2.19;2.19;2.21	5.6	-7.31	0.01441	.	0.108511	0.64402	D	0.000013	T	0.34454	0.0898	M	0.64997	1.995	0.39819	D	0.972812	D;D	0.69078	0.997;0.991	P;P	0.56648	0.803;0.517	T	0.54403	-0.8299	10	0.44086	T	0.13	-15.3256	24.0311	0.99987	0.0:0.0:0.8562:0.1438	.	468;582	B4DJZ1;Q9UGH3	.;S23A2_HUMAN	W	582;582;468	ENSP00000368637:R582W;ENSP00000344322:R582W;ENSP00000406601:R468W	ENSP00000344322:R582W	R	-	1	2	SLC23A2	4785827	1.000000	0.71417	0.460000	0.27093	0.417000	0.31264	1.028000	0.30128	-0.989000	0.03485	-0.388000	0.06559	CGG		0.433	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			10	22	0	0	0	1	0	10	22				
BMP3	651	broad.mit.edu	37	4	81967180	81967180	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81967180T>C	ENST00000282701.2	+	2	925	c.605T>C	c.(604-606)aTc>aCc	p.I202T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	202					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTAAAGATATCACTCAACTC	0.438																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(604-606)aTc>aCc		bone morphogenetic protein 3							126.0	136.0	133.0					4																	81967180		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967180T>C	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.605T>C	4.37:g.81967180T>C	ENSP00000282701:p.Ile202Thr						p.I202T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	925	+			202					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.605T>C	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973056	0.53614	.	.	ENSG00000152785	ENST00000282701	T	0.70516	-0.49	5.08	5.08	0.68730	Transforming growth factor-beta, N-terminal (1);	0.089531	0.85682	D	0.000000	D	0.82728	0.5100	M	0.77313	2.365	0.80722	D	1	D	0.64830	0.994	D	0.63793	0.918	D	0.85404	0.1133	10	0.87932	D	0	.	14.9576	0.71127	0.0:0.0:0.0:1.0	.	202	P12645	BMP3_HUMAN	T	202	ENSP00000282701:I202T	ENSP00000282701:I202T	I	+	2	0	BMP3	82186204	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	7.456000	0.80751	2.264000	0.75181	0.533000	0.62120	ATC		0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			18	131	0	0	0	1	0	18	131				
MAGEA5	4104	broad.mit.edu	37	X	151284076	151284076	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151284076G>A	ENST00000509345.2	-	0	260																											AGACCCACTGGCCTGGAGAGA	0.542																																						ENST00000509345.2																			0																																																			0							g.chrX:151284076G>A																													X.37:g.151284076G>A														0	260	-									RNA	SNP	ENST00000509345.2	37																																																																																						0.542	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			33	57	0	0	0	1	0	33	57				
ZNF486	90649	broad.mit.edu	37	19	20307822	20307822	+	Missense_Mutation	SNP	A	A	C	rs559002129		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20307822A>C	ENST00000335117.8	+	4	360	c.303A>C	c.(301-303)aaA>aaC	p.K101N	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGAGCATAAAAGATTCTTACC	0.343													A|||	1	0.000199681	0.0	0.0	5008	,	,		17397	0.0		0.0	False		,,,				2504	0.001					ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(301-303)aaA>aaC		zinc finger protein 486							69.0	74.0	72.0					19																	20307822		2145	4270	6415	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20307822A>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.303A>C	19.37:g.20307822A>C	ENSP00000335042:p.Lys101Asn					CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	p.K101N	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			4	360	+			101					Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.303A>C	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	a	12.28	1.890417	0.33348	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.05199	3.48	0.85	0.85	0.18980	.	.	.	.	.	T	0.14399	0.0348	M	0.62723	1.935	0.33582	D	0.599938	D	0.69078	0.997	D	0.64687	0.928	T	0.24621	-1.0155	9	0.48119	T	0.1	.	3.739	0.08523	1.0:0.0:0.0:0.0	.	101	Q96H40	ZN486_HUMAN	N	140;101	ENSP00000335042:K101N	ENSP00000335042:K101N	K	+	3	2	ZNF486	20168822	0.030000	0.19436	0.068000	0.19968	0.068000	0.16541	0.147000	0.16202	0.166000	0.19597	0.164000	0.16699	AAA		0.343	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		21	56	0	0	0	1	0	21	56				
ADCY1	107	broad.mit.edu	37	7	45724577	45724577	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45724577G>A	ENST00000297323.7	+	12	2005		c.e12-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCTTATTCAGTGTTTTCCAG	0.413																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.e12-1		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						207.0	196.0	200.0					7																	45724577		2203	4300	6503	SO:0001630	splice_region_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45724577G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1984-1G>A	7.37:g.45724577G>A								NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			12	2005	+								A4D2L8|Q75MI1	Splice_Site	SNP	ENST00000297323.7	37		CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606206	0.66445	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3714	0.74568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCY1	45691102	1.000000	0.71417	0.994000	0.49952	0.840000	0.47671	8.888000	0.92464	2.290000	0.77057	0.563000	0.77884	.		0.413	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	Intron	13	130	0	0	0	1	0	13	130				
ARHGEF10	9639	broad.mit.edu	37	8	1882009	1882009	+	Silent	SNP	C	C	T	rs146918202		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1882009C>T	ENST00000398564.1	+	26	3198	c.3198C>T	c.(3196-3198)ggC>ggT	p.G1066G	ARHGEF10_ENST00000520359.1_Silent_p.G1003G|ARHGEF10_ENST00000518288.1_Silent_p.G1065G|ARHGEF10_ENST00000349830.3_Silent_p.G1041G|ARHGEF10_ENST00000262112.6_Silent_p.G1037G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1066					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAAGTTAGGCGTCCTACCAG	0.438																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3193-3195)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 10							167.0	158.0	161.0					8																	1882009		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1882009C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3198C>T	8.37:g.1882009C>T						ARHGEF10_ENST00000262112.6_Silent_p.G1037G|ARHGEF10_ENST00000520359.1_Silent_p.G1003G|ARHGEF10_ENST00000349830.3_Silent_p.G1041G|ARHGEF10_ENST00000398564.1_Silent_p.G1066G	p.G1065G			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	27	3358	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1066					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.3195C>T																																																																																					0.438	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				12	99	0	0	0	1	0	12	99				
IPO13	9670	broad.mit.edu	37	1	44415727	44415727	+	Silent	SNP	G	G	A	rs144725438		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44415727G>A	ENST00000372343.3	+	2	1385	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	241					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGTGAGGCGCTCATTCAGG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		21803	0.001		0.0	False		,,,				2504	0.0					ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(721-723)gcG>gcA		importin 13							28.0	25.0	26.0					1																	44415727		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415727G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.723G>A	1.37:g.44415727G>A							p.A241A	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1385	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	241					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.723G>A	CCDS503.1																																																																																				0.597	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		7	14	0	0	0	1	0	7	14				
SHROOM3	57619	broad.mit.edu	37	4	77660256	77660256	+	Silent	SNP	C	C	T	rs372730468		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77660256C>T	ENST00000296043.6	+	5	1883	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	310					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCAAGACAGTCTATGACACCC	0.572																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(928-930)gtC>gtT		shroom family member 3							61.0	64.0	63.0					4																	77660256		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660256C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.930C>T	4.37:g.77660256C>T							p.V310V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1883	+			310					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.930C>T	CCDS3579.2																																																																																				0.572	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	72	0	0	0	1	0	4	72				
ZFR	51663	broad.mit.edu	37	5	32364315	32364315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32364315G>T	ENST00000265069.8	-	18	3004	c.2902C>A	c.(2902-2904)Ctg>Atg	p.L968M	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	968	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ACTCTTCTCAGTGCATCCCCA	0.358																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2902-2904)Ctg>Atg		zinc finger RNA binding protein							83.0	88.0	86.0					5																	32364315		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32364315G>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2902C>A	5.37:g.32364315G>T	ENSP00000265069:p.Leu968Met					ZFR_ENST00000510369.1_5'UTR	p.L968M	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	18	3004	-			968			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2902C>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775968	0.31411	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.53640	0.61	5.74	2.56	0.30785	DZF (2);	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.53671	1.685	0.53688	D	0.999974	P;D	0.69078	0.952;0.997	P;D	0.81914	0.672;0.995	T	0.56529	-0.7964	10	0.37606	T	0.19	.	11.6509	0.51288	0.2754:0.0:0.7246:0.0	.	947;968	B5MEH6;Q96KR1	.;ZFR_HUMAN	M	968;947	ENSP00000265069:L968M	ENSP00000265069:L968M	L	-	1	2	ZFR	32400072	0.152000	0.22762	0.995000	0.50966	0.998000	0.95712	0.505000	0.22642	0.778000	0.33520	0.655000	0.94253	CTG		0.358	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			12	119	1	0	2.23348e-06	1	2.57349e-06	12	119				
TAF4B	6875	broad.mit.edu	37	18	23847570	23847570	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23847570A>G	ENST00000269142.5	+	3	1578	c.580A>G	c.(580-582)Aag>Gag	p.K194E	TAF4B_ENST00000578121.1_Missense_Mutation_p.K194E|TAF4B_ENST00000400466.2_Missense_Mutation_p.K194E|RP11-25D3.1_ENST00000580975.1_RNA	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	194					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTGTTCCGAAGCCTTCCTC	0.393																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(580-582)Aag>Gag		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							96.0	93.0	94.0					18																	23847570		1888	4106	5994	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23847570A>G	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.580A>G	18.37:g.23847570A>G	ENSP00000269142:p.Lys194Glu					TAF4B_ENST00000578121.1_Missense_Mutation_p.K194E|TAF4B_ENST00000400466.2_Missense_Mutation_p.K194E	p.K194E	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		3	1578	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		194					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.580A>G	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.582650	0.28180	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.22945	1.93;1.95;1.93	5.7	4.53	0.55603	.	0.595743	0.17406	N	0.175375	T	0.16128	0.0388	L	0.40543	1.245	0.18873	N	0.999984	B;B	0.26318	0.146;0.075	B;B	0.23275	0.045;0.04	T	0.33624	-0.9861	10	0.02654	T	1	-2.4437	7.6167	0.28163	0.7158:0.1453:0.0:0.1389	.	194;194	Q92750;A4PBF7	TAF4B_HUMAN;.	E	194	ENSP00000389365:K194E;ENSP00000269142:K194E;ENSP00000383314:K194E	ENSP00000269142:K194E	K	+	1	0	TAF4B	22101568	0.248000	0.23930	0.209000	0.23619	0.959000	0.62525	0.887000	0.28254	0.978000	0.38470	0.455000	0.32223	AAG		0.393	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		28	45	0	0	0	1	0	28	45				
PLXNA1	5361	broad.mit.edu	37	3	126734114	126734114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126734114G>T	ENST00000393409.2	+	14	2965	c.2965G>T	c.(2965-2967)Ggc>Tgc	p.G989C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G966C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	989	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGAACGCAGGCAGTGATGT	0.662																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2896-2898)Ggc>Tgc		plexin A1							61.0	62.0	62.0					3																	126734114		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126734114G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2965G>T	3.37:g.126734114G>T	ENSP00000377061:p.Gly989Cys					PLXNA1_ENST00000393409.2_Missense_Mutation_p.G989C	p.G966C			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	14	2965	+			989			IPT/TIG 2.			Missense_Mutation	SNP	ENST00000393409.2	37	c.2896G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375457	0.82682	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76709	-1.04;-1.04	4.37	4.37	0.52481	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.90683	0.7077	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93279	0.6658	10	0.87932	D	0	.	17.0974	0.86639	0.0:0.0:1.0:0.0	.	989	Q9UIW2	PLXA1_HUMAN	C	989;966	ENSP00000377061:G989C;ENSP00000251772:G966C	ENSP00000251772:G966C	G	+	1	0	PLXNA1	128216804	1.000000	0.71417	0.970000	0.41538	0.616000	0.37450	9.642000	0.98461	2.260000	0.74910	0.491000	0.48974	GGC		0.662	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		21	30	1	0	1.22574e-08	1	1.47244e-08	21	30				
LIPK	643414	broad.mit.edu	37	10	90486579	90486579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90486579C>T	ENST00000404190.1	+	2	133	c.133C>T	c.(133-135)Cct>Tct	p.P45S		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	45					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CTGGGGTTATCCTTATGAAGA	0.328																																						ENST00000404190.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12						c.(133-135)Cct>Tct		lipase, family member K							75.0	73.0	73.0					10																	90486579		1812	4082	5894	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90486579C>T		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.133C>T	10.37:g.90486579C>T	ENSP00000383900:p.Pro45Ser						p.P45S	NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	2	133	+		Colorectal(252;0.0381)	45					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.133C>T	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614820	0.87359	.	.	ENSG00000204021	ENST00000404190	T	0.74106	-0.81	5.2	5.2	0.72013	Partial AB-hydrolase lipase domain (1);	0.000000	0.52532	D	0.000068	D	0.86653	0.5984	M	0.90759	3.145	0.53688	D	0.999978	D	0.69078	0.997	P	0.58331	0.837	D	0.89102	0.3490	10	0.87932	D	0	-19.0009	16.1163	0.81306	0.0:1.0:0.0:0.0	.	45	Q5VXJ0	LIPK_HUMAN	S	45	ENSP00000383900:P45S	ENSP00000383900:P45S	P	+	1	0	LIPK	90476559	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	4.568000	0.60857	2.861000	0.98227	0.655000	0.94253	CCT		0.328	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		3	10	0	0	0	1	0	3	10				
WDR78	79819	broad.mit.edu	37	1	67356837	67356837	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67356837C>A	ENST00000371026.3	-	4	698	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	WDR78_ENST00000371022.3_Splice_Site_p.D215Y|WDR78_ENST00000371023.3_Splice_Site_p.D215Y|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	215					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTCATTACCTGTGAAACTA	0.328																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.e4+1		WD repeat domain 78							153.0	153.0	153.0					1																	67356837		2203	4300	6503	SO:0001630	splice_region_variant	79819							g.chr1:67356837C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.643+1G>T	1.37:g.67356837C>A						WDR78_ENST00000371023.3_Splice_Site_p.D215_splice|WDR78_ENST00000371022.3_Splice_Site_p.D215_splice|WDR78_ENST00000431318.1_5'UTR	p.D215_splice	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			4	698	-			215					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Splice_Site	SNP	ENST00000371026.3	37	c.643_splice	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648794	0.47362	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.60548	0.18;1.96;0.88	5.39	5.39	0.77823	.	0.221598	0.44097	D	0.000500	T	0.70675	0.3251	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.969;0.969	T	0.73936	-0.3825	10	0.87932	D	0	-34.0861	15.005	0.71504	0.0:1.0:0.0:0.0	.	215;215;215	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	Y	215	ENSP00000360065:D215Y;ENSP00000360062:D215Y;ENSP00000360061:D215Y	ENSP00000360061:D215Y	D	-	1	0	WDR78	67129425	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	3.505000	0.53356	2.690000	0.91761	0.655000	0.94253	GAT		0.328	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Missense_Mutation	54	78	1	0	2.43277e-16	1	3.1399e-16	54	78				
SH3RF2	153769	broad.mit.edu	37	5	145317698	145317698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145317698C>T	ENST00000511217.1	+	1	259	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SH3RF2_ENST00000359120.4_Silent_p.L69L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	69					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCTGCTCGTGCGCCTTC	0.622																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(205-207)ctC>ctT		SH3 domain containing ring finger 2							48.0	48.0	48.0					5																	145317698		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145317698C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.207C>T	5.37:g.145317698C>T						SH3RF2_ENST00000359120.4_Silent_p.L69L	p.L69L			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	259	+			69					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.207C>T	CCDS4280.1																																																																																				0.622	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		31	31	0	0	0	1	0	31	31				
DCLRE1A	9937	broad.mit.edu	37	10	115594912	115594912	+	Nonstop_Mutation	SNP	C	C	A	rs113837788		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115594912C>A	ENST00000361384.2	-	9	4039	c.3122G>T	c.(3121-3123)tGa>tTa	p.*1041L	DCLRE1A_ENST00000369305.1_Nonstop_Mutation_p.*1041L	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	0					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GAGGTATCATCAATATCCAGC	0.378								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(3121-3123)tGa>tTa	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							147.0	146.0	146.0					10																	115594912		2203	4300	6503	SO:0001578	stop_lost	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115594912C>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.3122G>T	10.37:g.115594912C>A						DCLRE1A_ENST00000369305.1_Nonstop_Mutation_p.*1041L	p.*1041L	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	9	4039	-			0					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonstop_Mutation	SNP	ENST00000361384.2	37	c.3122G>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786140	0.49997	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	5.32	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0851	0.25254	0.0:0.6786:0.0:0.3214	.	.	.	.	L	1041	.	.	X	-	2	2	DCLRE1A	115584902	0.989000	0.36119	0.956000	0.39512	0.916000	0.54674	0.217000	0.17603	0.732000	0.32470	0.655000	0.94253	TGA		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		5	116	1	0	0.014758	1	0.0152625	5	116				
DOT1L	84444	broad.mit.edu	37	19	2216561	2216561	+	Silent	SNP	G	G	A	rs374885552		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216561G>A	ENST00000398665.3	+	20	2241	c.2205G>A	c.(2203-2205)acG>acA	p.T735T	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	735					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGAACACGCCCCAGTACC	0.667																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2203-2205)acG>acA		DOT1-like histone H3K79 methyltransferase		G		2,4128		0,2,2063	39.0	47.0	44.0		2205	-8.7	0.8	19		44	0,8398		0,0,4199	no	coding-synonymous	DOT1L	NM_032482.2		0,2,6262	AA,AG,GG		0.0,0.0484,0.016		735/1538	2216561	2,12526	2065	4199	6264	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216561G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2205G>A	19.37:g.2216561G>A							p.T735T	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2241	+		Hepatocellular(1079;0.137)	735					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.2205G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249392	0.22880	4.84E-4	0.0	ENSG00000104885	ENST00000440640	.	.	.	5.21	-8.71	0.00848	.	.	.	.	.	T	0.44435	0.1293	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51772	-0.8663	4	.	.	.	-32.304	6.3773	0.21515	0.2471:0.2597:0.4272:0.0661	.	.	.	.	H	522	.	.	R	+	2	0	DOT1L	2167561	0.000000	0.05858	0.760000	0.31359	0.802000	0.45316	-2.050000	0.01404	-1.171000	0.02765	-0.910000	0.02820	CGC		0.667	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		25	29	0	0	0	1	0	25	29				
NRSN2	80023	broad.mit.edu	37	20	334193	334193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:334193G>A	ENST00000382291.3	+	4	769	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.A177T|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	177						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TTTCCGCAATGCCAGTGGCCA	0.617																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(529-531)Gcc>Acc		neurensin 2							120.0	105.0	110.0					20																	334193		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:334193G>A	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.529G>A	20.37:g.334193G>A	ENSP00000371728:p.Ala177Thr					NRSN2_ENST00000382285.2_Missense_Mutation_p.A177T|NRSN2_ENST00000492242.1_3'UTR	p.A177T	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	769	+		all_cancers(10;0.0834)	177					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.529G>A	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	2.324	-0.355032	0.05138	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.14391	2.51;2.51	4.66	1.44	0.22558	.	0.566062	0.17925	N	0.157375	T	0.10165	0.0249	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27400	-1.0075	10	0.33940	T	0.23	-6.0838	6.8405	0.23961	0.32:0.0:0.68:0.0	.	177	Q9GZP1	NRSN2_HUMAN	T	177	ENSP00000371728:A177T;ENSP00000371722:A177T	ENSP00000371722:A177T	A	+	1	0	NRSN2	282193	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.200000	0.17257	0.151000	0.19162	0.643000	0.83706	GCC		0.617	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		14	107	0	0	0	1	0	14	107				
SCYL2	55681	broad.mit.edu	37	12	100732859	100732859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100732859C>A	ENST00000360820.2	+	18	3136	c.2699C>A	c.(2698-2700)cCt>cAt	p.P900H		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	900	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAGGGTAATCCTTTCTTTAAC	0.428																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(2698-2700)cCt>cAt		SCY1-like 2 (S. cerevisiae)							142.0	138.0	139.0					12																	100732859		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732859C>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2699C>A	12.37:g.100732859C>A	ENSP00000354061:p.Pro900His						p.P900H	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			18	3136	+			900			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.2699C>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180893	0.78677	.	.	ENSG00000136021	ENST00000360820	T	0.36878	1.23	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52087	-0.8622	10	0.87932	D	0	-17.3153	20.5632	0.99335	0.0:1.0:0.0:0.0	.	900	Q6P3W7	SCYL2_HUMAN	H	900	ENSP00000354061:P900H	ENSP00000354061:P900H	P	+	2	0	SCYL2	99256990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.937000	0.99478	0.650000	0.86243	CCT		0.428	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		58	84	1	0	6.3091e-27	1	8.41002e-27	58	84				
IL23R	149233	broad.mit.edu	37	1	67724629	67724629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724629G>T	ENST00000347310.5	+	11	1879	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Nonsense_Mutation_p.E315*	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	570					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGTAGAGGAGGAAACCACCAT	0.398																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1708-1710)Gaa>Taa		interleukin 23 receptor							76.0	75.0	75.0					1																	67724629		2203	4300	6503	SO:0001587	stop_gained	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724629G>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1708G>T	1.37:g.67724629G>T	ENSP00000321345:p.Glu570*					IL23R_ENST00000395227.1_Nonsense_Mutation_p.E315*|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	p.E570*	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1879	+			570					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Nonsense_Mutation	SNP	ENST00000347310.5	37	c.1708G>T	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.32|14.32	2.499253|2.499253	0.44455|0.44455	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000395227|ENST00000425614	.|.	.|.	.|.	5.62|5.62	3.65|3.65	0.41850|0.41850	.|.	0.514704|.	0.21280|.	N|.	0.077170|.	.|T	.|0.42743	.|0.1216	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40627	.|-0.9553	.|4	0.87932|.	D|.	0|.	-25.7632|-25.7632	6.939|6.939	0.24483|0.24483	0.0919:0.176:0.7322:0.0|0.0919:0.176:0.7322:0.0	.|.	.|.	.|.	.|.	X|S	570;315|331	.|.	ENSP00000321345:E570X|.	E|R	+|+	1|3	0|2	IL23R|IL23R	67497217|67497217	0.907000|0.907000	0.30839|0.30839	0.004000|0.004000	0.12327|0.12327	0.003000|0.003000	0.03518|0.03518	3.678000|3.678000	0.54627|0.54627	1.382000|1.382000	0.46385|0.46385	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.398	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		18	62	1	0	1.02788e-11	1	1.28409e-11	18	62				
SBF1	6305	broad.mit.edu	37	22	50905974	50905974	+	Missense_Mutation	SNP	G	G	A	rs376741098		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50905974G>A	ENST00000390679.3	-	4	609	c.425C>T	c.(424-426)aCg>aTg	p.T142M	SBF1_ENST00000380817.3_Missense_Mutation_p.T142M|SBF1_ENST00000348911.6_Missense_Mutation_p.T143M			O95248	MTMR5_HUMAN	SET binding factor 1	142	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAACACCTCCGTGTGGTCGAG	0.657																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(424-426)aCg>aTg		SET binding factor 1		G	MET/THR	0,4364		0,0,2182	80.0	92.0	88.0		425	2.5	0.0	22		88	1,8521		0,1,4260	no	missense	SBF1	NM_002972.2	81	0,1,6442	AA,AG,GG		0.0117,0.0,0.0078	benign	142/1894	50905974	1,12885	2182	4261	6443	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50905974G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.425C>T	22.37:g.50905974G>A	ENSP00000375097:p.Thr142Met					SBF1_ENST00000390679.3_Missense_Mutation_p.T142M|SBF1_ENST00000348911.6_Missense_Mutation_p.T143M	p.T142M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	4	608	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	142			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.425C>T		.	.	.	.	.	.	.	.	.	.	G	8.880	0.951396	0.18431	0.0	1.17E-4	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.11063	2.81;2.81;2.81	4.75	2.52	0.30459	.	0.409870	0.22950	N	0.053679	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	P;P	0.35033	0.481;0.481	B;B	0.35073	0.195;0.195	T	0.28364	-1.0046	10	0.48119	T	0.1	.	9.8765	0.41207	0.1808:0.0:0.8192:0.0	.	143;142	G5E933;O95248-4	.;.	M	142;143;153;152;142	ENSP00000370196:T142M;ENSP00000252027:T143M;ENSP00000375097:T142M	ENSP00000336522:T152M	T	-	2	0	SBF1	49252840	0.723000	0.28027	0.003000	0.11579	0.172000	0.22775	4.160000	0.58164	0.511000	0.28236	0.561000	0.74099	ACG		0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				47	37	0	0	0	1	0	47	37				
CCDC142	84865	broad.mit.edu	37	2	74709259	74709259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74709259G>T	ENST00000393965.3	-	1	1102	c.706C>A	c.(706-708)Ctc>Atc	p.L236I	CCDC142_ENST00000290418.4_Missense_Mutation_p.L236I|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000442235.2_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	236										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AAGAGGCGGAGCACACGGGAC	0.667																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(706-708)Ctc>Atc		coiled-coil domain containing 142							30.0	38.0	35.0					2																	74709259		2201	4299	6500	SO:0001583	missense	84865							g.chr2:74709259G>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.706C>A	2.37:g.74709259G>T	ENSP00000377537:p.Leu236Ile					CCDC142_ENST00000290418.4_Missense_Mutation_p.L236I|CCDC142_ENST00000471713.1_5'UTR	p.L236I	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1102	-			236					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.706C>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.064908	0.76187	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.91011	-2.77;-2.77	4.4	4.4	0.53042	.	0.000000	0.46145	D	0.000303	D	0.94112	0.8112	M	0.72118	2.19	0.31231	N	0.696299	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.80764	0.994;0.994;0.994	D	0.92697	0.6171	10	0.87932	D	0	-13.9769	12.6538	0.56776	0.0:0.0:1.0:0.0	.	236;236;236	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	I	236	ENSP00000377537:L236I;ENSP00000290418:L236I	ENSP00000290418:L236I	L	-	1	0	CCDC142	74562767	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.363000	0.44178	2.438000	0.82558	0.561000	0.74099	CTC		0.667	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		6	41	1	0	0.0215528	1	0.0221649	6	41				
DNAH9	1770	broad.mit.edu	37	17	11593175	11593175	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11593175C>A	ENST00000262442.4	+	20	4104	c.4036C>A	c.(4036-4038)Ctg>Atg	p.L1346M	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1346M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1346	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCCGAAACCTGGACAAGGA	0.572																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4036-4038)Ctg>Atg		dynein, axonemal, heavy chain 9							31.0	24.0	27.0					17																	11593175		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593175C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4036C>A	17.37:g.11593175C>A	ENSP00000262442:p.Leu1346Met					DNAH9_ENST00000454412.2_Missense_Mutation_p.L1346M	p.L1346M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4104	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1346			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4036C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298379	0.60195	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.66815	-0.23;-0.23	5.73	5.73	0.89815	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000009	T	0.79364	0.4433	M	0.76838	2.35	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.80576	-0.1321	10	0.59425	D	0.04	.	10.023	0.42055	0.0:0.8466:0.0:0.1534	.	1346	Q9NYC9	DYH9_HUMAN	M	1346	ENSP00000262442:L1346M;ENSP00000414874:L1346M	ENSP00000262442:L1346M	L	+	1	2	DNAH9	11533900	0.939000	0.31865	0.799000	0.32177	0.737000	0.42083	1.991000	0.40727	2.721000	0.93114	0.655000	0.94253	CTG		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	6	1	0	0.150653	1	0.152692	4	6				
NDUFAF3	25915	broad.mit.edu	37	3	49059860	49059860	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49059860G>A	ENST00000326925.6	+	2	1293	c.159G>A	c.(157-159)gaG>gaA	p.E53E	NDUFAF3_ENST00000451378.2_5'UTR|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000326912.4_5'UTR|NDUFAF3_ENST00000395458.2_5'UTR|DALRD3_ENST00000496568.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|MIR191_ENST00000384873.1_RNA	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	53					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCAACGCGAGGCCGCTCAGG	0.662																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(157-159)gaG>gaA		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							23.0	25.0	25.0					3																	49059860		2201	4299	6500	SO:0001819	synonymous_variant	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49059860G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.159G>A	3.37:g.49059860G>A						NDUFAF3_ENST00000326912.4_5'UTR|NDUFAF3_ENST00000451378.2_5'UTR|NDUFAF3_ENST00000395458.2_5'UTR	p.E53E	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			2	1293	+			53						Silent	SNP	ENST00000326925.6	37	c.159G>A	CCDS2784.1																																																																																				0.662	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		9	21	0	0	0	1	0	9	21				
RGS22	26166	broad.mit.edu	37	8	101076146	101076146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101076146C>T	ENST00000360863.6	-	8	1044	c.850G>A	c.(850-852)Gac>Aac	p.D284N	RGS22_ENST00000523287.1_Missense_Mutation_p.D103N|RGS22_ENST00000523437.1_Missense_Mutation_p.D272N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	284					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAGGAGTGTCTTGTAGAGAT	0.373																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(850-852)Gac>Aac		regulator of G-protein signaling 22							88.0	90.0	89.0					8																	101076146		1832	4075	5907	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076146C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.850G>A	8.37:g.101076146C>T	ENSP00000354109:p.Asp284Asn					RGS22_ENST00000523437.1_Missense_Mutation_p.D272N|RGS22_ENST00000523287.1_Missense_Mutation_p.D103N	p.D284N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1044	-			284					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.850G>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692927	0.88735	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.42131	1.01;0.98;1.01	5.86	5.86	0.93980	.	0.368863	0.27886	N	0.017441	T	0.65575	0.2704	M	0.66939	2.045	0.36166	D	0.848411	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.965;0.965;0.984	T	0.69899	-0.5020	10	0.72032	D	0.01	.	20.1735	0.98170	0.0:1.0:0.0:0.0	.	272;284;103	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	N	284;272;103;272	ENSP00000354109:D284N;ENSP00000429382:D103N;ENSP00000428212:D272N	ENSP00000354109:D284N	D	-	1	0	RGS22	101145322	1.000000	0.71417	0.703000	0.30354	0.722000	0.41435	4.957000	0.63652	2.937000	0.99478	0.650000	0.86243	GAC		0.373	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		77	97	0	0	0	1	0	77	97				
AHSP	51327	broad.mit.edu	37	16	31539887	31539887	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31539887G>A	ENST00000302312.4	+	3	287	c.184G>A	c.(184-186)Gag>Aag	p.E62K	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	62					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						GGAGCCCCAAGAGCGAGACAA	0.542																																						ENST00000302312.4																			0				lung(2)	2						c.(184-186)Gag>Aag		alpha hemoglobin stabilizing protein							78.0	70.0	73.0					16																	31539887		2197	4300	6497	SO:0001583	missense	51327				hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding	g.chr16:31539887G>A	AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"""alpha hemoglobin stabilising protein"""	605821	"""erythroid associated factor"""	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.184G>A	16.37:g.31539887G>A	ENSP00000307199:p.Glu62Lys					AHSP_ENST00000569954.1_3'UTR	p.E62K	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN			3	287	+			62					Q8TD01	Missense_Mutation	SNP	ENST00000302312.4	37	c.184G>A	CCDS10716.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813200	0.70912	.	.	ENSG00000169877	ENST00000302312	T	0.72167	-0.63	5.54	5.54	0.83059	.	0.285671	0.27139	N	0.020742	T	0.78046	0.4222	L	0.36672	1.1	0.36625	D	0.875983	D	0.89917	1.0	D	0.91635	0.999	T	0.82625	-0.0365	10	0.87932	D	0	.	14.9709	0.71232	0.0:0.0:1.0:0.0	.	62	Q9NZD4	AHSP_HUMAN	K	62	ENSP00000307199:E62K	ENSP00000307199:E62K	E	+	1	0	AHSP	31447388	1.000000	0.71417	0.715000	0.30552	0.009000	0.06853	4.231000	0.58639	2.598000	0.87819	0.655000	0.94253	GAG		0.542	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		21	31	0	0	0	1	0	21	31				
CHAF1A	10036	broad.mit.edu	37	19	4430615	4430615	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4430615T>C	ENST00000301280.5	+	11	2025	c.1924T>C	c.(1924-1926)Tct>Cct	p.S642P	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	642	Necessary for homodimerization and competence for chromatin assembly.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTACCTGTCTGAGGACGA	0.507								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1924-1926)Tct>Cct	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							149.0	117.0	128.0					19																	4430615		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4430615T>C	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1924T>C	19.37:g.4430615T>C	ENSP00000301280:p.Ser642Pro					CTB-50L17.5_ENST00000590159.1_RNA	p.S642P	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	11	2025	+		Hepatocellular(1079;0.137)	642			Necessary for homodimerization and competence for chromatin assembly.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1924T>C	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567775	0.65651	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.27402	1.67	4.25	4.25	0.50352	.	.	.	.	.	T	0.56217	0.1970	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62941	-0.6747	9	0.87932	D	0	-18.1717	12.6767	0.56897	0.0:0.0:0.0:1.0	.	642	Q13111	CAF1A_HUMAN	P	642	ENSP00000301280:S642P	ENSP00000301280:S642P	S	+	1	0	CHAF1A	4381615	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	7.043000	0.76572	1.785000	0.52413	0.260000	0.18958	TCT		0.507	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		4	59	0	0	0	1	0	4	59				
HELZ2	85441	broad.mit.edu	37	20	62198524	62198524	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62198524G>A	ENST00000467148.1	-	6	2256	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	HELZ2_ENST00000427522.2_Silent_p.H160H|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	729	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCGCCACCTCGTGAGTCTCCT	0.657																																						ENST00000467148.1																			0											c.(2185-2187)caC>caT		helicase with zinc finger 2, transcriptional coactivator							37.0	40.0	39.0					20																	62198524		2201	4296	6497	SO:0001819	synonymous_variant	85441							g.chr20:62198524G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2187C>T	20.37:g.62198524G>A						HELZ2_ENST00000427522.2_Silent_p.H160H	p.H729H	NM_001037335.2	NP_001032412.2					6	2256	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2187C>T	CCDS33508.1																																																																																				0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		8	54	0	0	0	1	0	8	54				
KIAA0907	22889	broad.mit.edu	37	1	155884087	155884087	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155884087G>T	ENST00000368321.3	-	14	1693	c.1670C>A	c.(1669-1671)aCt>aAt	p.T557N	RIT1_ENST00000539040.1_5'Flank|KIAA0907_ENST00000368320.3_3'UTR|RIT1_ENST00000368323.3_5'Flank	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	557							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTCTCTGTAGTTTTCATCTT	0.403																																						ENST00000368321.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1669-1671)aCt>aAt		KIAA0907							73.0	72.0	72.0					1																	155884087		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155884087G>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1670C>A	1.37:g.155884087G>T	ENSP00000357304:p.Thr557Asn					KIAA0907_ENST00000368320.3_3'UTR	p.T557N	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		14	1693	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		557					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1670C>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399911	0.42613	.	.	ENSG00000132680	ENST00000368321	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	N	0.19112	0.55	0.80722	D	1	B	0.33238	0.403	B	0.27796	0.083	T	0.34650	-0.9820	9	0.72032	D	0.01	-17.5446	15.7038	0.77563	0.0:0.1362:0.8638:0.0	.	557	Q7Z7F0	K0907_HUMAN	N	557	.	ENSP00000357304:T557N	T	-	2	0	KIAA0907	154150711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.955000	0.76007	2.890000	0.99128	0.585000	0.79938	ACT		0.403	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		40	22	1	0	4.14481e-20	1	5.433e-20	40	22				
COL4A6	1288	broad.mit.edu	37	X	107554055	107554055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107554055C>A	ENST00000372216.4	-	3	170	c.70G>T	c.(70-72)Gag>Tag	p.E24*	COL4A6_ENST00000545689.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000394872.2_Nonsense_Mutation_p.E23*|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.E23*	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	24	7S domain.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGACTTCTCTCCCTATTAA	0.413									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(67-69)Gag>Tag		collagen, type IV, alpha 6							82.0	77.0	79.0					X																	107554055		2203	4300	6503	SO:0001587	stop_gained	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107554055C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.70G>T	X.37:g.107554055C>A	ENSP00000361290:p.Glu24*					COL4A6_ENST00000372216.4_Nonsense_Mutation_p.E24*|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.E23*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.E23*	p.E23*			Q14031	CO4A6_HUMAN			3	298	-			24			7S domain.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Nonsense_Mutation	SNP	ENST00000372216.4	37	c.67G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	36	5.854549	0.97030	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	4.98	4.09	0.47781	.	0.221363	0.22891	N	0.054400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.5772	0.61881	0.0:0.8414:0.1585:0.0	.	.	.	.	X	24;23;23;23;23;23	.	ENSP00000334733:E23X	E	-	1	0	COL4A6	107440711	1.000000	0.71417	0.984000	0.44739	0.802000	0.45316	2.191000	0.42640	1.120000	0.41904	0.513000	0.50165	GAG		0.413	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			5	64	1	0	0.014758	1	0.0152625	5	64				
FAM208A	23272	broad.mit.edu	37	3	56667283	56667283	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56667283G>T	ENST00000493960.2	-	18	3546	c.3536C>A	c.(3535-3537)cCt>cAt	p.P1179H	FAM208A_ENST00000431842.2_Missense_Mutation_p.P742H|FAM208A_ENST00000355628.5_Missense_Mutation_p.P1118H	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1179							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CATATCACCAGGTACAATATG	0.418																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(2224-2226)cCt>cAt		family with sequence similarity 208, member A							161.0	156.0	158.0					3																	56667283		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56667283G>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3536C>A	3.37:g.56667283G>T	ENSP00000417509:p.Pro1179His					FAM208A_ENST00000493960.2_Missense_Mutation_p.P1179H|FAM208A_ENST00000355628.5_Missense_Mutation_p.P1118H	p.P742H	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			11	3149	-			1179					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.2225C>A	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989443	0.53934	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12569	2.67;2.85;2.86	5.55	3.75	0.43078	.	0.259153	0.34603	N	0.003824	T	0.27866	0.0686	L	0.59436	1.845	0.31155	N	0.704977	D;D;D;D	0.89917	0.998;0.996;0.998;1.0	D;P;D;D	0.69654	0.965;0.904;0.936;0.922	T	0.18272	-1.0342	10	0.87932	D	0	-4.4816	7.2439	0.26112	0.0677:0.1242:0.6793:0.1288	.	1179;1118;742;1179	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	H	742;1179;1118	ENSP00000399410:P742H;ENSP00000417509:P1179H;ENSP00000347845:P1118H	ENSP00000347845:P1118H	P	-	2	0	C3orf63	56642323	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.033000	0.41136	0.808000	0.34231	0.585000	0.79938	CCT		0.418	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		14	164	1	0	3.27435e-08	1	3.90559e-08	14	164				
RNF38	152006	broad.mit.edu	37	9	36357831	36357831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36357831G>T	ENST00000259605.6	-	5	786	c.679C>A	c.(679-681)Cca>Aca	p.P227T	RNF38_ENST00000377877.4_Missense_Mutation_p.P151T|RNF38_ENST00000350199.4_Missense_Mutation_p.P144T|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_Missense_Mutation_p.P144T|RNF38_ENST00000353739.4_Missense_Mutation_p.P177T|RNF38_ENST00000357058.3_Missense_Mutation_p.P144T	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	227					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGCATCCTGGGACCTGCTGT	0.483																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(430-432)Cca>Aca		ring finger protein 38							144.0	115.0	125.0					9																	36357831		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36357831G>T		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.679C>A	9.37:g.36357831G>T	ENSP00000259605:p.Pro227Thr					RNF38_ENST00000377885.2_Missense_Mutation_p.P144T|RNF38_ENST00000350199.4_Missense_Mutation_p.P144T|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377877.4_Missense_Mutation_p.P151T|RNF38_ENST00000259605.6_Missense_Mutation_p.P227T|RNF38_ENST00000353739.4_Missense_Mutation_p.P177T	p.P144T	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		5	1036	-			227					A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.430C>A	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990498	0.93106	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	M	0.66939	2.045	0.80722	D	1	D;P;D	0.55172	0.97;0.917;0.97	P;P;P	0.53518	0.728;0.69;0.728	D	0.85055	0.0931	10	0.72032	D	0.01	-9.4343	17.9372	0.89015	0.0:0.0:1.0:0.0	.	151;177;227	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	T	227;177;144;144;144;44;151;151	ENSP00000259605:P227T;ENSP00000335239:P177T;ENSP00000367117:P144T;ENSP00000349566:P144T;ENSP00000343947:P144T;ENSP00000367109:P151T	ENSP00000259605:P227T	P	-	1	0	RNF38	36347831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.627000	0.83176	2.838000	0.97847	0.655000	0.94253	CCA		0.483	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		29	33	1	0	1.77063e-15	1	2.27219e-15	29	33				
CASP4	837	broad.mit.edu	37	11	104819404	104819404	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104819404C>A	ENST00000444739.2	-	6	1692		c.e6-1		CASP4_ENST00000393150.3_Splice_Site|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCACGGTTTGCTATGGAGACA	0.473																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.e6-1		caspase 4, apoptosis-related cysteine peptidase							118.0	98.0	105.0					11																	104819404		2202	4299	6501	SO:0001630	splice_region_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104819404C>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.782-1G>T	11.37:g.104819404C>A						CASP4_ENST00000393150.3_Splice_Site		NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	6	1692	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)						A2NHL8|A2NHM0	Splice_Site	SNP	ENST00000444739.2	37		CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	6.435	0.448473	0.12223	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	.	.	.	4.56	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.35887	D	0.829378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8756	0.41202	0.2028:0.7972:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASP4	104324614	0.878000	0.30173	0.036000	0.18154	0.008000	0.06430	2.216000	0.42871	2.351000	0.79841	0.484000	0.47621	.		0.473	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	Intron	16	32	1	0	9.16793e-09	1	1.10245e-08	16	32				
PCDHGB2	56103	broad.mit.edu	37	5	140741962	140741962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140741962C>A	ENST00000522605.1	+	1	2260	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTACAACCTGTGTGTTGC	0.507																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(2260-2262)Ctg>Atg									147.0	151.0	150.0					5																	140741962		1941	4144	6085	SO:0001583	missense	0							g.chr5:140741962C>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2260C>A	5.37:g.140741962C>A	ENSP00000429018:p.Leu754Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.L754M	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2260	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.2260C>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.006778	0.35415	.	.	ENSG00000253910	ENST00000522605	T	0.50277	0.75	4.96	0.741	0.18336	.	.	.	.	.	T	0.49643	0.1569	L	0.53780	1.695	0.22240	N	0.99927	D;P	0.54047	0.964;0.568	P;B	0.48952	0.596;0.126	T	0.44651	-0.9314	9	0.66056	D	0.02	.	11.286	0.49222	0.2139:0.3137:0.4725:0.0	.	754;754	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	754	ENSP00000429018:L754M	ENSP00000429018:L754M	L	+	1	2	PCDHGB2	140722146	0.004000	0.15560	0.985000	0.45067	0.852000	0.48524	-0.966000	0.03825	-0.102000	0.12197	0.461000	0.40582	CTG		0.507	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		5	159	1	0	0.000602214	1	0.000649039	5	159				
RP1	6101	broad.mit.edu	37	8	55542081	55542081	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55542081C>A	ENST00000220676.1	+	4	5787	c.5639C>A	c.(5638-5640)cCt>cAt	p.P1880H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1880					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.P1880L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGTCTACCCTGTCTCTGAT	0.398																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.P1880L(1)	skin(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5638-5640)cCt>cAt		retinitis pigmentosa 1 (autosomal dominant)							119.0	113.0	115.0					8																	55542081		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542081C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5639C>A	8.37:g.55542081C>A	ENSP00000220676:p.Pro1880His						p.P1880H	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5787	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1880						Missense_Mutation	SNP	ENST00000220676.1	37	c.5639C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582938	0.65992	.	.	ENSG00000104237	ENST00000220676	T	0.49432	0.78	5.67	5.67	0.87782	.	0.000000	0.50627	D	0.000113	T	0.70316	0.3210	M	0.72894	2.215	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	T	0.72130	-0.4383	10	0.87932	D	0	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	1880	P56715	RP1_HUMAN	H	1880	ENSP00000220676:P1880H	ENSP00000220676:P1880H	P	+	2	0	RP1	55704634	0.997000	0.39634	0.998000	0.56505	0.680000	0.39746	5.359000	0.66074	2.687000	0.91594	0.655000	0.94253	CCT		0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	65	1	0	0.184627	1	0.186383	5	65				
PLIN4	729359	broad.mit.edu	37	19	4499545	4499545	+	IGR	SNP	C	C	T	rs577671814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499545C>T	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.R545W|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R545W	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTCTATACCCGGCTCAAGTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		11990	0.0		0.001	False		,,,				2504	0.0					ENST00000301284.4																			0											c.(1633-1635)Cgg>Tgg									32.0	38.0	36.0					19																	4499545		1952	4120	6072	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499545C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499545C>T						HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R545W	p.R545W	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			14	1697	+			545					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1633C>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448959	0.26074	.	.	ENSG00000167674	ENST00000301284	T	0.56103	0.48	4.2	3.1	0.35709	Transcription factor IIS, N-terminal (1);	0.141093	0.43416	D	0.000580	T	0.64746	0.2626	L	0.54323	1.7	0.37054	D	0.897731	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72075	0.976;0.941;0.941	T	0.72478	-0.4281	10	0.87932	D	0	.	12.0982	0.53767	0.1719:0.8281:0.0:0.0	.	545;545;545	Q7Z4V5-2;C9JEE1;Q7Z4V5	.;.;HDGR2_HUMAN	W	545	ENSP00000301284:R545W	ENSP00000301284:R545W	R	+	1	2	AC011498.1	4450545	0.983000	0.35010	0.988000	0.46212	0.073000	0.16967	1.915000	0.39976	2.183000	0.69458	0.462000	0.41574	CGG		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		3	12	0	0	0	1	0	3	12				
NRXN1	9378	broad.mit.edu	37	2	51254898	51254898	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254898C>T	ENST00000406316.2	-	2	1990	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NRXN1_ENST00000405472.3_Missense_Mutation_p.A172T|NRXN1_ENST00000404971.1_Missense_Mutation_p.A172T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A172T|NRXN1_ENST00000405581.1_Missense_Mutation_p.A172T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A172T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A172T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	172	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACCGAGGCCAGGGTGAGC	0.677																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(514-516)Gcc>Acc		neurexin 1							25.0	30.0	28.0					2																	51254898		2056	4178	6234	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254898C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.514G>A	2.37:g.51254898C>T	ENSP00000384311:p.Ala172Thr					NRXN1_ENST00000402717.3_Missense_Mutation_p.A172T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A172T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A172T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A172T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A172T|NRXN1_ENST00000405581.1_Missense_Mutation_p.A172T	p.A172T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1853	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	172			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.514G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768638	0.49680	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.70986	0.17;0.15;-0.53;-0.42;-0.13;0.03;3.38	4.97	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	229.391000	0.04113	U	0.315073	T	0.58061	0.2096	N	0.14661	0.345	0.23036	N	0.998398	B;B;B	0.26195	0.016;0.112;0.144	B;B;B	0.28232	0.062;0.087;0.034	T	0.50808	-0.8784	10	0.72032	D	0.01	.	7.5899	0.28015	0.2155:0.5284:0.2562:0.0	.	172;172;172	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	T	172	ENSP00000385142:A172T;ENSP00000384311:A172T;ENSP00000434015:A172T;ENSP00000385017:A172T;ENSP00000385434:A172T;ENSP00000385681:A172T;ENSP00000385310:A172T	ENSP00000385017:A172T	A	-	1	0	NRXN1	51108402	0.129000	0.22400	0.998000	0.56505	0.991000	0.79684	0.637000	0.24659	2.293000	0.77203	0.563000	0.77884	GCC		0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			7	6	0	0	0	1	0	7	6				
PKDREJ	10343	broad.mit.edu	37	22	46654856	46654856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46654856G>A	ENST00000253255.5	-	1	4363	c.4364C>T	c.(4363-4365)cCt>cTt	p.P1455L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1455					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCCGCTTGAGGTTTCCTCTG	0.383																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4363-4365)cCt>cTt		polycystin (PKD) family receptor for egg jelly							93.0	88.0	90.0					22																	46654856		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654856G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4364C>T	22.37:g.46654856G>A	ENSP00000253255:p.Pro1455Leu						p.P1455L	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4363	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1455					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4364C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518879	0.44763	.	.	ENSG00000130943	ENST00000253255	T	0.38722	1.12	5.06	1.61	0.23674	.	1.480890	0.04308	N	0.348400	T	0.36799	0.0980	L	0.54965	1.715	0.09310	N	1	B	0.25007	0.116	B	0.20384	0.029	T	0.19128	-1.0315	10	0.13470	T	0.59	-3.6271	7.3584	0.26731	0.0784:0.0:0.6263:0.2952	.	1455	Q9NTG1	PKDRE_HUMAN	L	1455	ENSP00000253255:P1455L	ENSP00000253255:P1455L	P	-	2	0	PKDREJ	45033520	0.030000	0.19436	0.004000	0.12327	0.636000	0.38137	1.336000	0.33850	0.202000	0.20498	0.561000	0.74099	CCT		0.383	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	128	0	0	0	1	0	8	128				
KMT2D	8085	broad.mit.edu	37	12	49445789	49445789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49445789C>A	ENST00000301067.7	-	10	1676	c.1677G>T	c.(1675-1677)gaG>gaT	p.E559D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	559	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGCAATTCCTCAGGTGGCG	0.597																																						ENST00000301067.7																			0											c.(1675-1677)gaG>gaT		lysine (K)-specific methyltransferase 2D							103.0	110.0	108.0					12																	49445789		2114	4215	6329	SO:0001583	missense	8085							g.chr12:49445789C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1677G>T	12.37:g.49445789C>A	ENSP00000301067:p.Glu559Asp						p.E559D	NM_003482.3	NP_003473.3					10	1676	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1677G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	4.167	0.029537	0.08054	.	.	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	3.84	2.02	0.26589	.	.	.	.	.	T	0.59742	0.2216	N	0.14661	0.345	0.09310	N	1	P	0.42409	0.779	B	0.37989	0.262	T	0.52381	-0.8583	9	0.87932	D	0	.	8.3433	0.32256	0.0:0.7981:0.0:0.2019	.	559	O14686	MLL2_HUMAN	D	559	ENSP00000301067:E559D	ENSP00000301067:E559D	E	-	3	2	MLL2	47732056	0.000000	0.05858	0.964000	0.40570	0.552000	0.35366	-0.001000	0.12947	0.602000	0.29896	0.313000	0.20887	GAG		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			54	73	1	0	1.14385e-22	1	1.51088e-22	54	73				
PAN2	9924	broad.mit.edu	37	12	56716231	56716231	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56716231G>A	ENST00000425394.2	-	19	3061	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	PAN2_ENST00000548043.1_Silent_p.D895D|PAN2_ENST00000257931.5_Silent_p.D894D|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000440411.3_Silent_p.D891D	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CAATAAGAAAGTCATTGAACA	0.403																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2683-2685)gaC>gaT		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							100.0	93.0	95.0					12																	56716231		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716231G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2685C>T	12.37:g.56716231G>A						PAN2_ENST00000548043.1_Silent_p.D895D|PAN2_ENST00000257931.5_Silent_p.D894D|PAN2_ENST00000440411.3_Silent_p.D891D	p.D895D	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			19	3061	-			895						Silent	SNP	ENST00000425394.2	37	c.2685C>T	CCDS44922.1																																																																																				0.403	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		19	36	0	0	0	1	0	19	36				
SPRY1	10252	broad.mit.edu	37	4	124323657	124323657	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323657A>G	ENST00000394339.2	+	2	1251	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SPRY1_ENST00000339241.1_Missense_Mutation_p.Y304C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	304	Cys-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AACACTGTCTATTGTAAGCTG	0.502																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(910-912)tAt>tGt		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							99.0	100.0	100.0					4																	124323657		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323657A>G	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.911A>G	4.37:g.124323657A>G	ENSP00000377871:p.Tyr304Cys					SPRY1_ENST00000339241.1_Missense_Mutation_p.Y304C	p.Y304C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	1251	+			304			Cys-rich.		D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.911A>G	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057402	0.36277	.	.	ENSG00000164056	ENST00000339241;ENST00000394339	T;T	0.53640	0.61;0.61	5.06	3.84	0.44239	.	0.000000	0.64402	D	0.000001	T	0.41604	0.1166	N	0.04090	-0.28	0.52099	D	0.999946	D	0.76494	0.999	D	0.70716	0.97	T	0.32587	-0.9901	9	.	.	.	-15.9763	10.7872	0.46411	0.8578:0.0:0.0:0.1422	.	304	O43609	SPY1_HUMAN	C	304	ENSP00000343785:Y304C;ENSP00000377871:Y304C	.	Y	+	2	0	SPRY1	124543107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.338000	0.72963	0.901000	0.36495	0.459000	0.35465	TAT		0.502	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			11	106	0	0	0	1	0	11	106				
CCDC91	55297	broad.mit.edu	37	12	28605525	28605525	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605525G>T	ENST00000545336.1	+	14	1458	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	CCDC91_ENST00000306172.5_Missense_Mutation_p.D317Y|CCDC91_ENST00000381259.1_Missense_Mutation_p.D347Y|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.D311Y|CCDC91_ENST00000539107.1_Missense_Mutation_p.D311Y			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	347	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACATGCAAAAGATCAAGAAAA	0.289																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(1039-1041)Gat>Tat		coiled-coil domain containing 91							57.0	64.0	61.0					12																	28605525		2202	4296	6498	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28605525G>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1039G>T	12.37:g.28605525G>T	ENSP00000438040:p.Asp347Tyr					CCDC91_ENST00000381256.1_Missense_Mutation_p.D311Y|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.D317Y|CCDC91_ENST00000381259.1_Missense_Mutation_p.D347Y|CCDC91_ENST00000539107.1_Missense_Mutation_p.D311Y	p.D347Y			Q7Z6B0	CCD91_HUMAN			14	1458	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		347			Homodimerization.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.1039G>T	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.845240|2.845240	0.51164|0.51164	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000536154;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212|ENST00000542801	T;T;T;T;T;T;T;T;T|.	0.50548|.	1.32;0.98;1.34;1.41;1.35;1.41;0.98;1.41;0.74|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.199542|.	0.35407|.	N|.	0.003230|.	T|T	0.44201|0.44201	0.1282|0.1282	N|N	0.24115|0.24115	0.695|0.695	0.32322|0.32322	N|N	0.562331|0.562331	D;D;D|.	0.65815|.	0.991;0.995;0.995|.	P;D;D|.	0.69142|.	0.857;0.944;0.962|.	T|T	0.55988|0.55988	-0.8053|-0.8053	10|6	0.62326|0.59425	D|D	0.03|0.04	-19.8482|-19.8482	13.076|13.076	0.59087|0.59087	0.0:0.1735:0.8265:0.0|0.0:0.1735:0.8265:0.0	.|.	311;347;317|.	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2|.	.;CCD91_HUMAN;.|.	Y|N	87;311;347;347;347;347;311;317;46|17	ENSP00000444440:D87Y;ENSP00000440513:D311Y;ENSP00000445660:D347Y;ENSP00000438040:D347Y;ENSP00000442544:D347Y;ENSP00000370658:D347Y;ENSP00000370655:D311Y;ENSP00000305075:D317Y;ENSP00000445999:D46Y|.	ENSP00000305075:D317Y|ENSP00000442473:K17N	D|K	+|+	1|3	0|2	CCDC91|CCDC91	28496792|28496792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.951000|2.951000	0.49089|0.49089	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	GAT|AAG		0.289	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		4	52	1	0	0.00909568	1	0.00947522	4	52				
SCML2	10389	broad.mit.edu	37	X	18276362	18276362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18276362C>T	ENST00000251900.4	-	10	1234	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	SCML2_ENST00000398048.3_Missense_Mutation_p.V95I	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	359					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACATAGACACAGACTTGA	0.423																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1075-1077)Gtc>Atc		sex comb on midleg-like 2 (Drosophila)							75.0	72.0	73.0					X																	18276362		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18276362C>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1075G>A	X.37:g.18276362C>T	ENSP00000251900:p.Val359Ile					SCML2_ENST00000398048.3_Missense_Mutation_p.V95I	p.V359I	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			10	1234	-	Hepatocellular(33;0.183)		359					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1075G>A	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517831	0.44763	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.47177	0.85;0.85	5.35	5.35	0.76521	.	0.188478	0.45867	D	0.000325	T	0.50854	0.1640	L	0.41906	1.305	0.80722	D	1	P;D;P	0.67145	0.756;0.996;0.846	B;D;P	0.66602	0.401;0.945;0.557	T	0.48468	-0.9033	10	0.02654	T	1	.	11.8885	0.52616	0.0:0.9177:0.0:0.0823	.	327;95;359	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	I	359;95;327	ENSP00000251900:V359I;ENSP00000381126:V95I	ENSP00000251900:V359I	V	-	1	0	SCML2	18186283	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.657000	0.67996	2.370000	0.80446	0.589000	0.80489	GTC		0.423	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		36	43	0	0	0	1	0	36	43				
NINL	22981	broad.mit.edu	37	20	25507058	25507058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25507058C>T	ENST00000278886.6	-	2	239	c.166G>A	c.(166-168)Gac>Aac	p.D56N	NINL_ENST00000422516.1_Missense_Mutation_p.D56N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	56	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCGAAATGGTCGTTTCCGAGA	0.527																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(166-168)Gac>Aac		ninein-like							116.0	125.0	122.0					20																	25507058		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507058C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.166G>A	20.37:g.25507058C>T	ENSP00000278886:p.Asp56Asn					NINL_ENST00000422516.1_Missense_Mutation_p.D56N	p.D56N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			2	239	-			56			EF-hand 2.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.166G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452722	0.01080	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.22134	1.97;1.97	5.11	2.17	0.27698	EF-hand-like domain (1);	0.372967	0.28908	N	0.013753	T	0.10809	0.0264	N	0.24115	0.695	0.19300	N	0.99998	B;B	0.32731	0.382;0.135	B;B	0.23150	0.044;0.013	T	0.22452	-1.0216	10	0.28530	T	0.3	-31.8272	8.7757	0.34760	0.0:0.6874:0.0:0.3126	.	56;56	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	N	56	ENSP00000278886:D56N;ENSP00000410431:D56N	ENSP00000278886:D56N	D	-	1	0	NINL	25455058	0.007000	0.16637	0.196000	0.23383	0.294000	0.27393	-0.027000	0.12371	0.434000	0.26340	-0.254000	0.11334	GAC		0.527	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		55	83	0	0	0	1	0	55	83				
ATP1A4	480	broad.mit.edu	37	1	160147442	160147442	+	Silent	SNP	C	C	T	rs555177353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160147442C>T	ENST00000368081.4	+	18	3195	c.2724C>T	c.(2722-2724)taC>taT	p.Y908Y	ATP1A4_ENST00000470705.1_Silent_p.Y44Y|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	908					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.Y908Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGACAGCTACGGACAGCAGT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20490	0.0		0.001	False		,,,				2504	0.0					ENST00000368081.4																			1	Substitution - coding silent(1)	p.Y908Y(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2722-2724)taC>taT		ATPase, Na+/K+ transporting, alpha 4 polypeptide							113.0	108.0	109.0					1																	160147442		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160147442C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2724C>T	1.37:g.160147442C>T						ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.Y44Y	p.Y908Y	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		18	3195	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		908					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.2724C>T	CCDS1197.1																																																																																				0.483	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		4	70	0	0	0	1	0	4	70				
ABCB5	340273	broad.mit.edu	37	7	20689654	20689654	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20689654G>T	ENST00000404938.2	+	12	1868	c.1216G>T	c.(1216-1218)Ggt>Tgt	p.G406C	ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000258738.6_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	406	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATTCTGAAAGGTCTGAATCT	0.393																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(1216-1218)Ggt>Tgt		ATP-binding cassette, sub-family B (MDR/TAP), member 5							68.0	58.0	61.0					7																	20689654		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20689654G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1216G>T	7.37:g.20689654G>T	ENSP00000384881:p.Gly406Cys					ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000477094.1_3'UTR	p.G406C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			12	1868	+			590			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1216G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851911	0.71719	.	.	ENSG00000004846	ENST00000404938	D	0.91351	-2.83	4.99	3.13	0.36017	.	.	.	.	.	D	0.95850	0.8649	M	0.92691	3.335	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.96197	0.9142	9	0.87932	D	0	.	13.6514	0.62312	0.0:0.0:0.7179:0.2821	.	406	A7BKA4	.	C	406	ENSP00000384881:G406C	ENSP00000384881:G406C	G	+	1	0	ABCB5	20656179	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	2.170000	0.42443	0.730000	0.32425	0.650000	0.86243	GGT		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		9	22	1	0	0.000274275	1	0.000298791	9	22				
PIGQ	9091	broad.mit.edu	37	16	633101	633101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633101C>A	ENST00000026218.5	+	10	1838	c.1750C>A	c.(1750-1752)Cac>Aac	p.H584N	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	584					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCAGGGTGGCACCAGCTCAG	0.637																																						ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1750-1752)Cac>Aac		phosphatidylinositol glycan anchor biosynthesis, class Q							70.0	70.0	70.0					16																	633101		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633101C>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1750C>A	16.37:g.633101C>A	ENSP00000026218:p.His584Asn					PIGQ_ENST00000321878.5_3'UTR	p.H584N	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	1838	+		Hepatocellular(780;0.00335)	584					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1750C>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430016	0.25726	.	.	ENSG00000007541	ENST00000026218	T	0.20738	2.05	3.76	-3.68	0.04463	.	.	.	.	.	T	0.08670	0.0215	N	0.08118	0	0.09310	N	0.999999	P;B	0.35982	0.531;0.023	B;B	0.32289	0.143;0.006	T	0.28933	-1.0028	8	.	.	.	.	11.2913	0.49252	0.0:0.6616:0.0:0.3384	.	154;584	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	N	584	ENSP00000026218:H584N	.	H	+	1	0	PIGQ	573102	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.070000	0.01380	-1.103000	0.03019	-0.628000	0.03992	CAC		0.637	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		6	91	1	0	8.12818e-05	1	8.99451e-05	6	91				
ZCCHC6	79670	broad.mit.edu	37	9	88940264	88940264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88940264G>A	ENST00000375963.3	-	12	1946	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R592C|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R469C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	592	PAP-associated 1.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATGGCAATGCGCTTTTTGGGC	0.373																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1774-1776)Cgc>Tgc		zinc finger, CCHC domain containing 6							99.0	97.0	97.0					9																	88940264		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88940264G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1774C>T	9.37:g.88940264G>A	ENSP00000365130:p.Arg592Cys					ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R469C|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R592C	p.R592C			Q5VYS8	TUT7_HUMAN			12	1988	-			592			PAP-associated 1.		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1774C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260239	0.59321	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.56611	0.45;0.45;0.45	5.1	4.19	0.49359	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	L	0.52905	1.665	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67345	-0.5694	10	0.42905	T	0.14	-14.853	14.8976	0.70654	0.0:0.0:0.8557:0.1443	.	469;592	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	C	469;592;592	ENSP00000365127:R469C;ENSP00000365128:R592C;ENSP00000365130:R592C	ENSP00000365127:R469C	R	-	1	0	ZCCHC6	88130084	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.679000	0.68160	1.342000	0.45619	0.650000	0.86243	CGC		0.373	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		31	65	0	0	0	1	0	31	65				
ATP4B	496	broad.mit.edu	37	13	114307678	114307678	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114307678T>C	ENST00000335288.4	-	3	354	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	105					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			TCTGCCCAGGTTCTGTTATCA	0.557																																						ENST00000335288.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(313-315)Acc>Gcc		ATPase, H+/K+ exchanging, beta polypeptide	Rabeprazole(DB01129)						235.0	200.0	212.0					13																	114307678		2203	4300	6503	SO:0001583	missense	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114307678T>C		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.313A>G	13.37:g.114307678T>C	ENSP00000334216:p.Thr105Ala						p.T105A	NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	all cancers(43;0.171)		3	354	-	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	105					B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	c.313A>G	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.585670	0.46110	.	.	ENSG00000186009	ENST00000335288	T	0.30714	1.52	5.02	2.16	0.27623	.	0.215567	0.37906	N	0.001896	T	0.38321	0.1036	M	0.86028	2.79	0.26271	N	0.978429	B	0.33288	0.406	B	0.37833	0.259	T	0.36915	-0.9728	10	0.59425	D	0.04	-4.2843	8.3836	0.32486	0.4882:0.0:0.0:0.5118	.	105	P51164	ATP4B_HUMAN	A	105	ENSP00000334216:T105A	ENSP00000334216:T105A	T	-	1	0	ATP4B	113355679	0.826000	0.29277	0.909000	0.35828	0.965000	0.64279	1.159000	0.31749	0.747000	0.32809	0.402000	0.26972	ACC		0.557	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		15	48	0	0	0	1	0	15	48				
KIAA1551	55196	broad.mit.edu	37	12	32135497	32135497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32135497G>T	ENST00000312561.4	+	4	2022	c.1608G>T	c.(1606-1608)caG>caT	p.Q536H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	536																	AGATGACCCAGGCAGTATTGA	0.403																																						ENST00000312561.4																			0											c.(1606-1608)caG>caT		KIAA1551							48.0	46.0	47.0					12																	32135497		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32135497G>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1608G>T	12.37:g.32135497G>T	ENSP00000310338:p.Gln536His					KIAA1551_ENST00000535596.1_Intron	p.Q536H	NM_018169.3	NP_060639.3					4	2022	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1608G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061465	0.19987	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05447	4.07;3.44	4.54	1.57	0.23409	.	0.944513	0.08620	N	0.918659	T	0.11836	0.0288	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.38112	-0.9676	9	.	.	.	.	7.2768	0.26290	0.306:0.0:0.694:0.0	.	536	Q9HCM1	CL035_HUMAN	H	536	ENSP00000310338:Q536H;ENSP00000370442:Q536H	.	Q	+	3	2	C12orf35	32026764	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.112000	0.10791	0.324000	0.23333	0.563000	0.77884	CAG		0.403	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		16	29	1	0	0.000308642	1	0.000336111	16	29				
ZNF3	7551	broad.mit.edu	37	7	99673193	99673193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99673193G>A	ENST00000424697.1	-	4	422	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF3_ENST00000299667.4_Missense_Mutation_p.A39V|ZNF3_ENST00000303915.6_Missense_Mutation_p.A39V|ZNF3_ENST00000413658.2_Missense_Mutation_p.A39V	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	39					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.A39G(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GAGCGCAGCCGCCAACATCTC	0.502																																						ENST00000303915.6																			2	Substitution - Missense(2)	p.A39G(2)	breast(2)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(115-117)gCg>gTg		zinc finger protein 3							69.0	76.0	74.0					7																	99673193		2029	4191	6220	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99673193G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.116C>T	7.37:g.99673193G>A	ENSP00000415358:p.Ala39Val					ZNF3_ENST00000424697.1_Missense_Mutation_p.A39V|ZNF3_ENST00000413658.2_Missense_Mutation_p.A39V|ZNF3_ENST00000299667.4_Missense_Mutation_p.A39V	p.A39V			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	1083	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	39					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.116C>T	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229520	0.58777	.	.	ENSG00000166526	ENST00000413658;ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298;ENST00000415068;ENST00000292393	T;T;T;T;T;T;T;T;T	0.08193	4.53;3.12;3.12;3.12;4.8;4.95;4.95;4.67;4.75	4.63	3.75	0.43078	.	0.183542	0.26796	N	0.022449	T	0.07413	0.0187	L	0.50333	1.59	0.25540	N	0.987188	B;P	0.39181	0.003;0.663	B;B	0.30316	0.001;0.114	T	0.26224	-1.0109	10	0.87932	D	0	-5.2474	8.5819	0.33634	0.104:0.0:0.896:0.0	.	39;39	P17036;P17036-2	ZNF3_HUMAN;.	V	39;39;39;39;3;39;39;3;39;3	ENSP00000399951:A39V;ENSP00000415358:A39V;ENSP00000306372:A39V;ENSP00000299667:A39V;ENSP00000416088:A3V;ENSP00000405970:A39V;ENSP00000388042:A39V;ENSP00000394113:A3V;ENSP00000416686:A39V	ENSP00000292393:A3V	A	-	2	0	ZNF3	99511129	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.672000	0.46850	1.188000	0.43014	0.650000	0.86243	GCG		0.502	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		5	45	0	0	0	1	0	5	45				
EMD	2010	broad.mit.edu	37	X	153609120	153609120	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153609120A>T	ENST00000369842.4	+	5	695	c.407A>T	c.(406-408)gAt>gTt	p.D136V	EMD_ENST00000369835.3_Missense_Mutation_p.D101V|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	136	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTGCATGATGACGATCTT	0.612																																						ENST00000369842.4																			0				lung(5)	5						c.(406-408)gAt>gTt		emerin							81.0	77.0	78.0					X																	153609120		2203	4300	6503	SO:0001583	missense	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153609120A>T	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.407A>T	X.37:g.153609120A>T	ENSP00000358857:p.Asp136Val					EMD_ENST00000369835.3_Missense_Mutation_p.D101V|EMD_ENST00000492448.1_3'UTR	p.D136V	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			5	695	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		136			Interaction with F-actin (Probable).		Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	c.407A>T	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507253	0.27036	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	D;D	0.87491	-1.85;-2.26	3.79	1.37	0.22104	.	0.764120	0.11874	N	0.521146	T	0.74801	0.3764	L	0.29908	0.895	0.20975	N	0.999817	B	0.33694	0.421	B	0.26864	0.074	T	0.65047	-0.6263	10	0.66056	D	0.02	-7.3225	3.3262	0.07067	0.6325:0.2384:0.1291:0.0	.	136	P50402	EMD_HUMAN	V	136;101	ENSP00000358857:D136V;ENSP00000358850:D101V	ENSP00000358850:D101V	D	+	2	0	EMD	153262314	0.458000	0.25760	0.006000	0.13384	0.025000	0.11179	1.662000	0.37418	0.171000	0.19730	0.356000	0.21956	GAT		0.612	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			31	69	0	0	0	1	0	31	69				
PRTG	283659	broad.mit.edu	37	15	55912934	55912934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55912934C>T	ENST00000389286.4	-	19	3172	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATTATAGGACCATAGCTATT	0.323																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3124-3126)gGt>gAt		protogenin							55.0	54.0	54.0					15																	55912934		1790	4052	5842	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55912934C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3125G>A	15.37:g.55912934C>T	ENSP00000373937:p.Gly1042Asp						p.G1042D	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	19	3172	-			1042						Missense_Mutation	SNP	ENST00000389286.4	37	c.3125G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670657	0.88348	.	.	ENSG00000166450	ENST00000389286	T	0.62498	0.02	5.91	5.91	0.95273	.	0.050435	0.85682	D	0.000000	T	0.78641	0.4315	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79045	-0.1964	10	0.87932	D	0	-20.3526	19.2865	0.94077	0.0:1.0:0.0:0.0	.	1042	Q2VWP7	PRTG_HUMAN	D	1042	ENSP00000373937:G1042D	ENSP00000373937:G1042D	G	-	2	0	PRTG	53700226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.976000	0.63785	2.802000	0.96397	0.655000	0.94253	GGT		0.323	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		14	38	0	0	0	1	0	14	38				
UNC5D	137970	broad.mit.edu	37	8	35579906	35579906	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35579906C>T	ENST00000404895.2	+	9	1624	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	UNC5D_ENST00000453357.2_Silent_p.V427V|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000416672.1_Silent_p.V437V|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Silent_p.V365V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	432					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAAAACAGTCCGTCAAGGTC	0.552																																						ENST00000453357.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1279-1281)gtC>gtT		unc-5 homolog D (C. elegans)							177.0	147.0	157.0					8																	35579906		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579906C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1296C>T	8.37:g.35579906C>T						UNC5D_ENST00000416672.1_Silent_p.V437V|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.V432V|UNC5D_ENST00000420357.1_Silent_p.V365V	p.V427V			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1337	+			432					Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1281C>T	CCDS6093.2																																																																																				0.552	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			46	83	0	0	0	1	0	46	83				
SLC45A2	51151	broad.mit.edu	37	5	33984573	33984573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984573C>T	ENST00000296589.4	-	1	262	c.116G>A	c.(115-117)aGc>aAc	p.S39N	SLC45A2_ENST00000345083.5_Missense_Mutation_p.S39N|SLC45A2_ENST00000382102.3_Missense_Mutation_p.S39N|SLC45A2_ENST00000342059.3_Missense_Mutation_p.S39N|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S39N	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	39					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATGGCCATGCTGTGCATGAT	0.577																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(115-117)aGc>aAc		solute carrier family 45, member 2							56.0	52.0	53.0					5																	33984573		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984573C>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.116G>A	5.37:g.33984573C>T	ENSP00000296589:p.Ser39Asn					SLC45A2_ENST00000342059.3_Missense_Mutation_p.S39N|SLC45A2_ENST00000345083.5_Missense_Mutation_p.S39N|SLC45A2_ENST00000296589.4_Missense_Mutation_p.S39N|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S39N	p.S39N	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			1	173	-			39					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.116G>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770801	0.90108	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.079382	0.85682	D	0.000000	D	0.96445	0.8840	M	0.86953	2.85	0.58432	D	0.999998	D;P;D	0.76494	0.999;0.847;0.979	D;P;P	0.74674	0.984;0.73;0.877	D	0.95422	0.8508	10	0.33141	T	0.24	-30.901	19.201	0.93712	0.0:1.0:0.0:0.0	.	39;39;39	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	N	39	ENSP00000296589:S39N;ENSP00000341014:S39N;ENSP00000371534:S39N;ENSP00000421100:S39N;ENSP00000340444:S39N	ENSP00000296589:S39N	S	-	2	0	SLC45A2	34020330	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.569000	0.82380	2.535000	0.85469	0.551000	0.68910	AGC		0.577	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		7	17	0	0	0	1	0	7	17				
RUNX1T1	862	broad.mit.edu	37	8	92972475	92972475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92972475G>A	ENST00000523629.1	-	12	2264	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R604C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R615C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R567C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R567C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	604					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CACGTCTAGCGAGGGGTTGTC	0.542																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1810-1812)Cgc>Tgc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							69.0	45.0	53.0					8																	92972475		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972475G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1810C>T	8.37:g.92972475G>A	ENSP00000428543:p.Arg604Cys					RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R567C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R615C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R604C	p.R604C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		12	2264	-			604					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1810C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500011	0.64298	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.38722	1.14;1.18;1.14;1.2;1.2;1.2;1.12;1.18	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.986	D;D;D;D	0.71414	0.973;0.973;0.973;0.963	T	0.59974	-0.7353	10	0.87932	D	0	.	19.8956	0.96956	0.0:0.0:1.0:0.0	.	615;567;604;577	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	C	604;577;604;567;567;567;615;577	ENSP00000428543:R604C;ENSP00000379520:R577C;ENSP00000265814:R604C;ENSP00000353504:R567C;ENSP00000390137:R567C;ENSP00000428742:R567C;ENSP00000402257:R615C;ENSP00000430728:R577C	ENSP00000265814:R604C	R	-	1	0	RUNX1T1	93041651	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.823000	0.92018	2.708000	0.92522	0.563000	0.77884	CGC		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		6	8	0	0	0	1	0	6	8				
FCGBP	8857	broad.mit.edu	37	19	40412178	40412178	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40412178C>T	ENST00000221347.6	-	7	3457	c.3450G>A	c.(3448-3450)ccG>ccA	p.P1150P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1150	Cys-rich.|TIL 2.					extracellular vesicular exosome (GO:0070062)		p.P1150P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGGACAGCGGGCAGCCGT	0.622																																						ENST00000221347.6																			1	Substitution - coding silent(1)	p.P1150P(1)	NS(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3448-3450)ccG>ccA		Fc fragment of IgG binding protein							35.0	38.0	37.0					19																	40412178		2203	4299	6502	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40412178C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3450G>A	19.37:g.40412178C>T							p.P1150P	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3457	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1150			Cys-rich.|TIL 2.		O95784	Silent	SNP	ENST00000221347.6	37	c.3450G>A	CCDS12546.1																																																																																				0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	31	0	0	0	1	0	19	31				
PDS5B	23047	broad.mit.edu	37	13	33262607	33262607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33262607G>A	ENST00000315596.10	+	13	1556	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	457					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTTGTTGAACGGATCTTTGCT	0.313																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1369-1371)cGg>cAg		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							179.0	167.0	171.0					13																	33262607		1840	4087	5927	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33262607G>A	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1370G>A	13.37:g.33262607G>A	ENSP00000313851:p.Arg457Gln						p.R457Q	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	13	1556	+		Lung SC(185;0.0367)	457					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1370G>A	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688702	0.88639	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.49778	1.585	0.80722	D	1	P;P	0.50819	0.939;0.927	B;B	0.40256	0.315;0.324	T	0.52064	-0.8625	9	0.23302	T	0.38	-2.3564	19.3669	0.94466	0.0:0.0:1.0:0.0	.	457;457	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	Q	457	.	ENSP00000313851:R457Q	R	+	2	0	PDS5B	32160607	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.579000	0.67457	2.568000	0.86640	0.460000	0.39030	CGG		0.313	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		31	44	0	0	0	1	0	31	44				
CD164	8763	broad.mit.edu	37	6	109700818	109700818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109700818C>T	ENST00000310786.4	-	2	288	c.223G>A	c.(223-225)Gtt>Att	p.V75I	CD164_ENST00000324953.5_Missense_Mutation_p.V75I|CD164_ENST00000413644.2_Missense_Mutation_p.V75I|CD164_ENST00000504373.1_Missense_Mutation_p.V41I|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000512821.1_Missense_Mutation_p.V75I|CD164_ENST00000368961.5_Missense_Mutation_p.V75I|CD164_ENST00000275080.7_Missense_Mutation_p.V75I	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	75					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GTATTAACAACGCTAACATTA	0.353																																						ENST00000368961.5																			0				breast(1)|lung(2)	3						c.(223-225)Gtt>Att		CD164 molecule, sialomucin							101.0	103.0	102.0					6																	109700818		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109700818C>T	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.223G>A	6.37:g.109700818C>T	ENSP00000309376:p.Val75Ile					CD164_ENST00000324953.5_Missense_Mutation_p.V75I|CD164_ENST00000413644.2_Missense_Mutation_p.V75I|CD164_ENST00000512821.1_Missense_Mutation_p.V75I|CD164_ENST00000504373.1_Missense_Mutation_p.V41I|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000275080.7_Missense_Mutation_p.V75I|CD164_ENST00000310786.4_Missense_Mutation_p.V75I	p.V75I			Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	2	403	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	75					B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.223G>A	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	c	4.200	0.035793	0.08148	.	.	ENSG00000135535	ENST00000413644;ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000512821;ENST00000504373	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	3.72	-7.44	0.01379	.	2.405880	0.02035	N	0.048834	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.05115	-1.0905	10	0.20519	T	0.43	17.4779	7.6931	0.28579	0.0:0.4563:0.2402:0.3036	.	75;75;75;75;75	Q04900-5;Q04900-3;Q04900-4;Q04900;Q04900-2	.;.;.;MUC24_HUMAN;.	I	75;75;75;75;75;75;41	ENSP00000402237:V75I;ENSP00000357957:V75I;ENSP00000314177:V75I;ENSP00000309376:V75I;ENSP00000275080:V75I;ENSP00000427546:V75I;ENSP00000422999:V41I	ENSP00000275080:V75I	V	-	1	0	CD164	109807511	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.808000	0.00756	-2.723000	0.00388	-2.871000	0.00099	GTT		0.353	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		20	60	0	0	0	1	0	20	60				
LDLRAD3	143458	broad.mit.edu	37	11	36250939	36250939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36250939G>T	ENST00000315571.5	+	6	1051	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	LDLRAD3_ENST00000524419.1_Nonsense_Mutation_p.E334*|LDLRAD3_ENST00000528989.1_Nonsense_Mutation_p.E295*	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	344					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GGGCACTGAAGAAGTATAAGT	0.552																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(1030-1032)Gaa>Taa		low density lipoprotein receptor class A domain containing 3							45.0	53.0	50.0					11																	36250939		2199	4297	6496	SO:0001587	stop_gained	143458					integral to membrane	receptor activity	g.chr11:36250939G>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.1030G>T	11.37:g.36250939G>T	ENSP00000318607:p.Glu344*					LDLRAD3_ENST00000528989.1_Nonsense_Mutation_p.E295*|LDLRAD3_ENST00000524419.1_Nonsense_Mutation_p.E334*	p.E344*	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			6	1051	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	344					B7Z1U3|B9EG81|Q8NBJ0	Nonsense_Mutation	SNP	ENST00000315571.5	37	c.1030G>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284740	0.59867	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	.	.	.	5.22	3.3	0.37823	.	0.510169	0.18994	N	0.125540	.	.	.	.	.	.	0.22787	N	0.99874	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.4724	0.75449	0.0:0.263:0.737:0.0	.	.	.	.	X	295;334;344	.	ENSP00000318607:E344X	E	+	1	0	LDLRAD3	36207515	1.000000	0.71417	0.231000	0.23993	0.796000	0.44982	2.886000	0.48578	0.556000	0.29098	0.563000	0.77884	GAA		0.552	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		33	53	1	0	7.11191e-15	1	9.09819e-15	33	53				
VPS25	84313	broad.mit.edu	37	17	40928262	40928262	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40928262G>T	ENST00000253794.2	+	5	382		c.e5-1			NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGTATTCACAGGTTTCCAGGA	0.463																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.e5-1		vacuolar protein sorting 25 homolog (S. cerevisiae)							84.0	82.0	82.0					17																	40928262		2203	4300	6503	SO:0001630	splice_region_variant	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40928262G>T	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.343-1G>T	17.37:g.40928262G>T								NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	5	382	+		Breast(137;0.00104)						B2R581	Splice_Site	SNP	ENST00000253794.2	37		CCDS11438.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666178	0.29604	.	.	ENSG00000131475	ENST00000253794	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0728	0.93147	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS25	38181788	1.000000	0.71417	0.992000	0.48379	0.003000	0.03518	9.435000	0.97529	2.604000	0.88044	0.650000	0.86243	.		0.463	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353	Intron	4	42	1	0	1.23904e-05	1	1.39987e-05	4	42				
TSPAN32	10077	broad.mit.edu	37	11	2324157	2324157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2324157G>T	ENST00000182290.4	+	2	287	c.150G>T	c.(148-150)gaG>gaT	p.E50D	C11orf21_ENST00000381153.3_5'Flank|TSPAN32_ENST00000381121.3_Missense_Mutation_p.E50D|C11orf21_ENST00000470369.1_5'Flank|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.E39D	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	50					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTGGAGAAGAACCCGT	0.642																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(148-150)gaG>gaT		tetraspanin 32							97.0	88.0	91.0					11																	2324157		2202	4299	6501	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2324157G>T	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.150G>T	11.37:g.2324157G>T	ENSP00000182290:p.Glu50Asp					TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.E39D|TSPAN32_ENST00000381121.3_Missense_Mutation_p.E50D	p.E50D	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	2	287	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	50					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.150G>T	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528263	0.85706	.	.	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307;ENST00000381117	T;T;T	0.79033	-1.23;-1.23;-1.23	3.65	-1.04	0.10068	.	0.546683	0.14643	N	0.307085	T	0.60612	0.2282	N	0.12961	0.28	0.09310	N	1	B;B;B;B;B;B	0.21821	0.061;0.018;0.005;0.016;0.006;0.005	B;B;B;B;B;B	0.26416	0.069;0.008;0.007;0.024;0.013;0.007	T	0.42292	-0.9460	10	0.19147	T	0.46	-6.671	14.5065	0.67755	0.0:0.6236:0.3764:0.0	.	37;50;20;50;50;39	B4DQ90;Q96QS1-5;G3XAG6;Q96QS1-3;Q96QS1;F8WCN6	.;.;.;.;TSN32_HUMAN;.	D	50;50;39;20;20	ENSP00000182290:E50D;ENSP00000370513:E50D;ENSP00000405205:E39D	ENSP00000182290:E50D	E	+	3	2	TSPAN32	2280733	0.002000	0.14202	0.000000	0.03702	0.044000	0.14063	0.072000	0.14617	-0.297000	0.08934	0.407000	0.27541	GAG		0.642	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		8	41	1	0	0.00621372	1	0.00652201	8	41				
HELZ2	85441	broad.mit.edu	37	20	62202148	62202148	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62202148G>A	ENST00000467148.1	-	2	421	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	118					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCTGCGTGCGCCGGACCCAC	0.697																																						ENST00000467148.1																			0											c.(352-354)Cgc>Tgc		helicase with zinc finger 2, transcriptional coactivator							19.0	19.0	19.0					20																	62202148		2197	4290	6487	SO:0001583	missense	85441							g.chr20:62202148G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.352C>T	20.37:g.62202148G>A	ENSP00000417401:p.Arg118Cys					HELZ2_ENST00000479540.1_5'UTR	p.R118C	NM_001037335.2	NP_001032412.2					2	421	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.352C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617110	0.28801	.	.	ENSG00000130589	ENST00000467148	T	0.02709	4.19	4.39	2.39	0.29439	.	0.295289	0.27886	N	0.017448	T	0.04998	0.0134	M	0.69248	2.105	0.39740	D	0.971735	D;B	0.61697	0.99;0.373	B;B	0.42087	0.375;0.036	T	0.37244	-0.9714	10	0.87932	D	0	-9.4787	11.7539	0.51863	0.0:0.0:0.5444:0.4556	.	118;118	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	C	118	ENSP00000417401:R118C	ENSP00000417401:R118C	R	-	1	0	RP4-697K14.7	61672592	0.009000	0.17119	0.009000	0.14445	0.000000	0.00434	0.189000	0.17037	0.315000	0.23110	-1.026000	0.02426	CGC		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	11	0	0	0	1	0	3	11				
CUBN	8029	broad.mit.edu	37	10	17164793	17164793	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17164793C>T	ENST00000377833.4	-	6	659		c.e6+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAAAGTTACCTGTAACTTC	0.363																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.e6+1		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						39.0	36.0	37.0					10																	17164793		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17164793C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.593+1G>A	10.37:g.17164793C>T								NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			6	659	-								B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	ENST00000377833.4	37		CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019065	0.75275	.	.	ENSG00000107611	ENST00000377833;ENST00000433666	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8139	0.92070	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17204799	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.680000	0.74518	2.432000	0.82394	0.655000	0.94253	.		0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Intron	12	9	0	0	0	1	0	12	9				
OR51I2	390064	broad.mit.edu	37	11	5474999	5474999	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5474999T>C	ENST00000341449.2	+	1	362	c.281T>C	c.(280-282)tTt>tCt	p.F94S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	94					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACATCACTTTTGATGCCTGT	0.468																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(280-282)tTt>tCt		olfactory receptor, family 51, subfamily I, member 2							134.0	130.0	131.0					11																	5474999		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474999T>C	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.281T>C	11.37:g.5474999T>C	ENSP00000341987:p.Phe94Ser					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	p.F94S	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	362	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	94					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.281T>C	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281981	0.59867	.	.	ENSG00000187918	ENST00000341449	T	0.06294	3.32	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.28764	0.0713	M	0.85710	2.77	0.37644	D	0.922167	D	0.71674	0.998	D	0.75484	0.986	T	0.20075	-1.0286	10	0.72032	D	0.01	.	14.7065	0.69194	0.0:0.0:0.0:1.0	.	94	Q9H344	O51I2_HUMAN	S	94	ENSP00000341987:F94S	ENSP00000341987:F94S	F	+	2	0	OR51I2	5431575	0.418000	0.25440	0.980000	0.43619	0.587000	0.36485	1.091000	0.30915	2.340000	0.79590	0.528000	0.53228	TTT		0.468	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		4	104	0	0	0	1	0	4	104				
ATP2B2	491	broad.mit.edu	37	3	10420081	10420081	+	Silent	SNP	G	G	A	rs369726075		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10420081G>A	ENST00000352432.4	-	9	1125	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	ATP2B2_ENST00000397077.1_Silent_p.D307D|ATP2B2_ENST00000360273.2_Silent_p.D352D|ATP2B2_ENST00000383800.4_Silent_p.D307D|ATP2B2_ENST00000343816.4_Silent_p.D338D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	352					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.D307D(1)|p.D352D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCTGCCCCGTCCTGTTGTT	0.622																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			2	Substitution - coding silent(2)	p.D307D(1)|p.D352D(1)	endometrium(2)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(919-921)gaC>gaT		ATPase, Ca++ transporting, plasma membrane 2		G	,	0,4406		0,0,2203	57.0	55.0	56.0		1056,921	-6.0	0.9	3		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP2B2	NM_001001331.2,NM_001683.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	352/1244,307/1199	10420081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10420081G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1056C>T	3.37:g.10420081G>A						ATP2B2_ENST00000383800.4_Silent_p.D307D|ATP2B2_ENST00000360273.2_Silent_p.D352D|ATP2B2_ENST00000343816.4_Silent_p.D338D|ATP2B2_ENST00000352432.4_Silent_p.D352D	p.D307D			Q01814	AT2B2_HUMAN			9	1496	-			352					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.921C>T	CCDS33701.1																																																																																				0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		17	44	0	0	0	1	0	17	44				
CPZ	8532	broad.mit.edu	37	4	8616085	8616085	+	Splice_Site	SNP	G	G	T	rs139636384		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8616085G>T	ENST00000360986.4	+	9	1537		c.e9-1		CPZ_ENST00000315782.6_Splice_Site|CPZ_ENST00000429646.2_Splice_Site|CPZ_ENST00000382480.2_Splice_Site	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z						proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGCCACAGGCATGTCCGA	0.627																																						ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.e7-1		carboxypeptidase Z							123.0	108.0	113.0					4																	8616085		2203	4300	6503	SO:0001630	splice_region_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8616085G>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1364-1G>T	4.37:g.8616085G>T						CPZ_ENST00000360986.4_Splice_Site|CPZ_ENST00000382480.2_Splice_Site|CPZ_ENST00000315782.6_Splice_Site				Q66K79	CBPZ_HUMAN			7	2980	+								O00520|Q96MX2	Splice_Site	SNP	ENST00000360986.4	37		CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545368	0.65198	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7475	0.88425	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPZ	8666985	1.000000	0.71417	0.997000	0.53966	0.599000	0.36880	8.870000	0.92336	2.178000	0.69098	0.561000	0.74099	.		0.627	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	Intron	6	35	1	0	8.28177e-16	1	1.06505e-15	6	35				
AKTIP	64400	broad.mit.edu	37	16	53532473	53532473	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53532473G>A	ENST00000394657.7	-	3	252	c.78C>T	c.(76-78)gaC>gaT	p.D26D	AKTIP_ENST00000570004.1_Silent_p.D26D|AKTIP_ENST00000300245.4_Silent_p.D26D	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	26					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TGGTTTTCACGTCCCCTGTTA	0.418																																						ENST00000300245.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(76-78)gaC>gaT		AKT interacting protein							115.0	108.0	110.0					16																	53532473		2198	4300	6498	SO:0001819	synonymous_variant	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53532473G>A	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.78C>T	16.37:g.53532473G>A						AKTIP_ENST00000570004.1_Silent_p.D26D|AKTIP_ENST00000394657.6_Silent_p.D26D	p.D26D			Q9H8T0	AKTIP_HUMAN			4	295	-		all_cancers(37;0.14)	26					Q503B1|Q53H38	Silent	SNP	ENST00000394657.7	37	c.78C>T	CCDS10749.1																																																																																				0.418	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		42	51	0	0	0	1	0	42	51				
MAP4K1	11184	broad.mit.edu	37	19	39078452	39078452	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39078452A>G	ENST00000591517.1	-	32	2528	c.2500T>C	c.(2500-2502)Tag>Cag	p.*834Q	MAP4K1_ENST00000589130.1_Missense_Mutation_p.V797A|MAP4K1_ENST00000396857.2_Missense_Mutation_p.V801A|MAP4K1_ENST00000586296.1_Missense_Mutation_p.V375A	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	0					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCACCACTACAGGCCTGTG	0.473																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(2500-2502)Tag>Cag		mitogen-activated protein kinase kinase kinase kinase 1							65.0	68.0	67.0					19																	39078452		1986	4135	6121	SO:0001578	stop_lost	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39078452A>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2500T>C	19.37:g.39078452A>G	ENSP00000465039:p.*834Gluext*37					MAP4K1_ENST00000589130.1_Missense_Mutation_p.V797A|MAP4K1_ENST00000586296.1_Missense_Mutation_p.V375A|MAP4K1_ENST00000396857.2_Missense_Mutation_p.V801A	p.*834Q	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		32	2528	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		0						Nonstop_Mutation	SNP	ENST00000591517.1	37	c.2500T>C	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858620	0.51376	.	.	ENSG00000104814	ENST00000396857	T	0.79454	-1.27	5.16	4.15	0.48705	.	.	.	.	.	T	0.70185	0.3195	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.16722	0.016	T	0.67043	-0.5770	8	0.87932	D	0	.	8.8207	0.35025	0.9135:0.0:0.0865:0.0	.	801	Q92918-2	.	A	801	ENSP00000380066:V801A	ENSP00000380066:V801A	V	-	2	0	MAP4K1	43770292	0.992000	0.36948	0.998000	0.56505	0.964000	0.63967	3.557000	0.53741	0.989000	0.38761	0.529000	0.55759	GTA		0.473	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		3	36	0	0	0	1	0	3	36				
DNAH3	55567	broad.mit.edu	37	16	20975279	20975279	+	Silent	SNP	C	C	T	rs148736888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975279C>T	ENST00000261383.3	-	53	9926	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3309					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCCAGGTCCGAGATACAAA	0.498																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9925-9927)tcG>tcA		dynein, axonemal, heavy chain 3		C		1,4401	2.1+/-5.4	0,1,2200	110.0	105.0	107.0		9927	-7.8	0.5	16	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		3309/4117	20975279	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975279C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9927G>A	16.37:g.20975279C>T						DNAH3_ENST00000415178.1_3'UTR	p.S3309S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9926	-			3309					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9927G>A	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		32	55	0	0	0	1	0	32	55				
TRIM71	131405	broad.mit.edu	37	3	32927435	32927435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32927435G>A	ENST00000383763.5	+	3	1093	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	344					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAGCATCGAGCAGGCCCA	0.498																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1030-1032)Gag>Aag		tripartite motif containing 71, E3 ubiquitin protein ligase							83.0	88.0	86.0					3																	32927435		2074	4215	6289	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32927435G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1030G>A	3.37:g.32927435G>A	ENSP00000373272:p.Glu344Lys						p.E344K	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			3	1093	+			344						Missense_Mutation	SNP	ENST00000383763.5	37	c.1030G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109584	0.77096	.	.	ENSG00000206557	ENST00000383763	D	0.83591	-1.74	5.0	5.0	0.66597	.	0.279728	0.33023	N	0.005370	T	0.67646	0.2915	N	0.12182	0.205	0.80722	D	1	B	0.24576	0.106	B	0.09377	0.004	T	0.64922	-0.6293	10	0.10111	T	0.7	-42.1055	16.8563	0.86007	0.0:0.0:1.0:0.0	.	344	Q2Q1W2	LIN41_HUMAN	K	344	ENSP00000373272:E344K	ENSP00000373272:E344K	E	+	1	0	TRIM71	32902439	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.511000	0.98006	2.318000	0.78349	0.462000	0.41574	GAG		0.498	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		18	24	0	0	0	1	0	18	24				
ZNF497	162968	broad.mit.edu	37	19	58868797	58868797	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868797C>A	ENST00000311044.3	-	3	393	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	ZNF497_ENST00000425453.3_Missense_Mutation_p.G69C|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	69					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CTGCCGGGGCCTCCCTGTTCG	0.746																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(205-207)Ggc>Tgc		zinc finger protein 497							6.0	7.0	7.0					19																	58868797		1837	3798	5635	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868797C>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.205G>T	19.37:g.58868797C>A	ENSP00000311183:p.Gly69Cys					ZNF497_ENST00000425453.3_Missense_Mutation_p.G69C|CTD-2619J13.8_ENST00000599109.1_RNA	p.G69C	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	393	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	69					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.205G>T	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125624	0.37533	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.07567	3.18;3.18	1.16	0.0976	0.14494	.	.	.	.	.	T	0.04998	0.0134	N	0.14661	0.345	0.09310	N	1	P	0.52463	0.953	B	0.43783	0.431	T	0.34254	-0.9836	9	0.72032	D	0.01	.	3.4938	0.07648	0.0:0.7259:0.0:0.2741	.	69	Q6ZNH5	ZN497_HUMAN	C	69	ENSP00000311183:G69C;ENSP00000402815:G69C	ENSP00000311183:G69C	G	-	1	0	ZNF497	63560609	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-0.248000	0.08854	0.072000	0.16694	0.205000	0.17691	GGC		0.746	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		3	6	1	0	0.004672	1	0.0049138	3	6				
HTT	3064	broad.mit.edu	37	4	3237092	3237092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3237092C>T	ENST00000355072.5	+	62	8683	c.8538C>T	c.(8536-8538)gaC>gaT	p.D2846D	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2846					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATCCTCTGGACGTAGGGCCGG	0.532																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(8536-8538)gaC>gaT		huntingtin							116.0	115.0	115.0					4																	3237092		2111	4228	6339	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3237092C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8538C>T	4.37:g.3237092C>T						HTT_ENST00000513806.1_3'UTR	p.D2846D	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	62	8683	+		all_epithelial(65;0.18)	2846					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.8538C>T	CCDS43206.1																																																																																				0.532	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		24	34	0	0	0	1	0	24	34				
RAD17	5884	broad.mit.edu	37	5	68695879	68695879	+	Missense_Mutation	SNP	C	C	T	rs376862416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68695879C>T	ENST00000509734.1	+	16	2287	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	RAD17_ENST00000380774.3_Missense_Mutation_p.R537W|RAD17_ENST00000354868.5_Missense_Mutation_p.R526W|RAD17_ENST00000361732.2_Missense_Mutation_p.R526W|RAD17_ENST00000282891.6_Missense_Mutation_p.R440W|RAD17_ENST00000354312.3_Missense_Mutation_p.R526W|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.R361W|RAD17_ENST00000305138.4_Missense_Mutation_p.R526W|RAD17_ENST00000358030.2_Missense_Mutation_p.R361W|RAD17_ENST00000345306.6_Missense_Mutation_p.R526W			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	537	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATACAGTATCGGGAAAATTG	0.328								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1609-1611)Cgg>Tgg	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	40.0	41.0		1576,1576,1609,1081,1318,1576,1576,1576	5.6	1.0	5		41	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	RAD17	NM_002873.1,NM_133338.1,NM_133339.1,NM_133340.1,NM_133341.1,NM_133342.1,NM_133343.1,NM_133344.1	101,101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	526/671,526/671,537/682,361/506,440/585,526/671,526/671,526/671	68695879	1,13005	2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68695879C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1609C>T	5.37:g.68695879C>T	ENSP00000426191:p.Arg537Trp					RAD17_ENST00000282891.6_Missense_Mutation_p.R440W|RAD17_ENST00000305138.4_Missense_Mutation_p.R526W|RAD17_ENST00000354312.3_Missense_Mutation_p.R526W|RAD17_ENST00000358030.2_Missense_Mutation_p.R361W|RAD17_ENST00000380774.3_Missense_Mutation_p.R537W|RAD17_ENST00000361732.2_Missense_Mutation_p.R526W|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.R361W|RAD17_ENST00000345306.6_Missense_Mutation_p.R526W|RAD17_ENST00000354868.5_Missense_Mutation_p.R526W	p.R537W			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	16	2287	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	537			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1609C>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857090	0.51376	2.27E-4	0.0	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.64	5.64	0.86602	.	0.274240	0.37483	N	0.002074	T	0.34164	0.0888	M	0.78637	2.42	0.49915	D	0.999831	P;P;P	0.46512	0.879;0.523;0.705	B;B;B	0.38327	0.271;0.099;0.134	T	0.40608	-0.9554	10	0.72032	D	0.01	-2.8488	18.5427	0.91035	0.0:1.0:0.0:0.0	.	537;440;526	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	W	526;537;526;361;526;526;526;440;361;537;145	ENSP00000355226:R526W;ENSP00000426191:R537W;ENSP00000346938:R526W;ENSP00000427743:R361W;ENSP00000346271:R526W;ENSP00000311227:R526W;ENSP00000303134:R526W;ENSP00000282891:R440W;ENSP00000350725:R361W;ENSP00000370151:R537W;ENSP00000425005:R145W	ENSP00000282891:R440W	R	+	1	2	RAD17	68731635	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	4.238000	0.58688	2.677000	0.91161	0.586000	0.80456	CGG		0.328	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		13	27	0	0	0	1	0	13	27				
ST3GAL2	6483	broad.mit.edu	37	16	70416789	70416789	+	Silent	SNP	G	G	A	rs143187183		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70416789G>A	ENST00000393640.4	-	5	2905	c.798C>T	c.(796-798)caC>caT	p.H266H	ST3GAL2_ENST00000342907.2_Silent_p.H266H|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	266					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCACCTGTCGTGGATATACT	0.552																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(796-798)caC>caT		ST3 beta-galactoside alpha-2,3-sialyltransferase 2		G		0,4396		0,0,2198	115.0	91.0	99.0		798	-10.5	0.3	16	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST3GAL2	NM_006927.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		266/351	70416789	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70416789G>A	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.798C>T	16.37:g.70416789G>A						RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.H266H	p.H266H			Q16842	SIA4B_HUMAN			5	2905	-		Ovarian(137;0.0694)	266					O00654	Silent	SNP	ENST00000393640.4	37	c.798C>T	CCDS10890.1																																																																																				0.552	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		8	16	0	0	0	1	0	8	16				
E2F7	144455	broad.mit.edu	37	12	77438524	77438524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77438524A>G	ENST00000322886.7	-	6	1116	c.881T>C	c.(880-882)tTt>tCt	p.F294S	E2F7_ENST00000416496.2_Missense_Mutation_p.F294S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	294					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGCATGACAAACTTCTGGCT	0.398																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(880-882)tTt>tCt		E2F transcription factor 7							158.0	144.0	149.0					12																	77438524		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77438524A>G	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.881T>C	12.37:g.77438524A>G	ENSP00000323246:p.Phe294Ser					E2F7_ENST00000416496.2_Missense_Mutation_p.F294S	p.F294S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			6	1116	-			294					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.881T>C	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	A	31	5.058287	0.93846	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.50001	0.95;0.76;0.76	6.17	6.17	0.99709	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85034	0.0919	10	0.87932	D	0	-20.9217	16.0034	0.80327	1.0:0.0:0.0:0.0	.	294	Q96AV8	E2F7_HUMAN	S	294	ENSP00000323246:F294S;ENSP00000393639:F294S;ENSP00000448245:F294S	ENSP00000323246:F294S	F	-	2	0	E2F7	75962655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TTT		0.398	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		54	59	0	0	0	1	0	54	59				
EREG	2069	broad.mit.edu	37	4	75231047	75231047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75231047G>A	ENST00000244869.2	+	1	188	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	8					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GAGGAGGATGGAGATGCTCTG	0.692																																						ENST00000244869.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(22-24)Gag>Aag		epiregulin							35.0	33.0	34.0					4																	75231047		2203	4300	6503	SO:0001583	missense	2069				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	g.chr4:75231047G>A	D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.22G>A	4.37:g.75231047G>A	ENSP00000244869:p.Glu8Lys						p.E8K	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	Lung(101;0.196)		1	188	+			8					B2RC66|Q6FH69	Missense_Mutation	SNP	ENST00000244869.2	37	c.22G>A	CCDS3564.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962823	0.53507	.	.	ENSG00000124882	ENST00000244869	T	0.27256	1.68	3.74	2.87	0.33458	.	3.050000	0.00873	N	0.002054	T	0.25082	0.0609	L	0.40543	1.245	0.28288	N	0.923667	P	0.37330	0.59	B	0.33254	0.16	T	0.33523	-0.9865	10	0.87932	D	0	-6.7035	9.1926	0.37209	0.0:0.2225:0.7775:0.0	.	8	O14944	EREG_HUMAN	K	8	ENSP00000244869:E8K	ENSP00000244869:E8K	E	+	1	0	EREG	75449911	1.000000	0.71417	0.947000	0.38551	0.048000	0.14542	1.311000	0.33562	1.106000	0.41623	0.561000	0.74099	GAG		0.692	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1			7	17	0	0	0	1	0	7	17				
CLCN2	1181	broad.mit.edu	37	3	184073305	184073305	+	Nonsense_Mutation	SNP	C	C	A	rs146097084		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184073305C>A	ENST00000265593.4	-	12	1354	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	CLCN2_ENST00000434054.2_Nonsense_Mutation_p.E351*|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000423355.2_Nonsense_Mutation_p.E36*|CLCN2_ENST00000344937.7_Nonsense_Mutation_p.E395*|CLCN2_ENST00000457512.1_Nonsense_Mutation_p.E395*|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	395					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCAGCGTCTCTTTCTGTGAG	0.612																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1183-1185)Gag>Tag		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						85.0	88.0	87.0					3																	184073305		2203	4300	6503	SO:0001587	stop_gained	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184073305C>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1183G>T	3.37:g.184073305C>A	ENSP00000265593:p.Glu395*					CLCN2_ENST00000475279.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Nonsense_Mutation_p.E351*|CLCN2_ENST00000344937.7_Nonsense_Mutation_p.E395*|CLCN2_ENST00000423355.2_Nonsense_Mutation_p.E36*|CLCN2_ENST00000457512.1_Nonsense_Mutation_p.E395*	p.E395*	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	1354	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		395					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Nonsense_Mutation	SNP	ENST00000265593.4	37	c.1183G>T	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	38	7.149413	0.98096	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.0586	19.5129	0.95151	0.0:1.0:0.0:0.0	.	.	.	.	X	395;395;36;351;395	.	ENSP00000265593:E395X	E	-	1	0	CLCN2	185555999	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.086000	0.71352	2.722000	0.93159	0.655000	0.94253	GAG		0.612	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			12	51	1	0	0.000978159	1	0.00105116	12	51				
SLC35D1	23169	broad.mit.edu	37	1	67474798	67474798	+	Missense_Mutation	SNP	G	G	A	rs549408335		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67474798G>A	ENST00000235345.5	-	11	1014	c.929C>T	c.(928-930)aCg>aTg	p.T310M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T231M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	310					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						GTTTGTCCACGTGAAAATATA	0.249													G|||	1	0.000199681	0.0	0.0	5008	,	,		14766	0.0		0.0	False		,,,				2504	0.001					ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(928-930)aCg>aTg		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						26.0	27.0	27.0					1																	67474798		2178	4271	6449	SO:0001583	missense	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67474798G>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.929C>T	1.37:g.67474798G>A	ENSP00000235345:p.Thr310Met					SLC35D1_ENST00000506472.2_Missense_Mutation_p.T231M	p.T310M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			11	1014	-			310					A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	c.929C>T	CCDS636.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186784	0.78789	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.68331	-0.32;-0.32	6.17	6.17	0.99709	Domain of unknown function DUF250 (1);	0.174705	0.51477	D	0.000084	T	0.78916	0.4359	M	0.70595	2.14	0.45284	D	0.998287	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.901	T	0.79024	-0.1972	10	0.87932	D	0	-10.4083	19.6509	0.95805	0.0:0.0:1.0:0.0	.	231;310	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	M	310;231	ENSP00000235345:T310M;ENSP00000445189:T231M	ENSP00000235345:T310M	T	-	2	0	SLC35D1	67247386	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.862000	0.75484	2.941000	0.99782	0.655000	0.94253	ACG		0.249	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		6	16	0	0	0	1	0	6	16				
CYLD	1540	broad.mit.edu	37	16	50813864	50813864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50813864C>T	ENST00000427738.3	+	8	1632	c.1427C>T	c.(1426-1428)gCt>gTt	p.A476V	CYLD_ENST00000398568.2_Missense_Mutation_p.A473V|CYLD_ENST00000569418.1_Missense_Mutation_p.A473V|CYLD_ENST00000540145.1_Missense_Mutation_p.A476V|CYLD_ENST00000566206.1_Missense_Mutation_p.A473V|CYLD_ENST00000564326.1_Missense_Mutation_p.A473V|CYLD_ENST00000311559.9_Missense_Mutation_p.A476V|CYLD_ENST00000568704.2_Intron			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	476	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCTCATTGGCTGAAGTTAAG	0.512			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1426-1428)gCt>gTt		cylindromatosis (turban tumor syndrome)							86.0	86.0	86.0					16																	50813864		1964	4148	6112	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50813864C>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1427C>T	16.37:g.50813864C>T	ENSP00000392025:p.Ala476Val					CYLD_ENST00000564326.1_Missense_Mutation_p.A473V|CYLD_ENST00000566206.1_Missense_Mutation_p.A473V|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000398568.2_Missense_Mutation_p.A473V|CYLD_ENST00000311559.9_Missense_Mutation_p.A476V|CYLD_ENST00000569418.1_Missense_Mutation_p.A473V|CYLD_ENST00000427738.3_Missense_Mutation_p.A476V	p.A476V			Q9NQC7	CYLD_HUMAN			9	1842	+		all_cancers(37;0.0156)	476			Interaction with IKBKG/NEMO.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1427C>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	2.891	-0.229730	0.06022	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.59502	0.26;0.26;0.26	5.42	5.42	0.78866	Cytoskeleton-associated protein, Gly-rich domain (3);	0.056358	0.64402	D	0.000001	T	0.23965	0.0580	N	0.00413	-1.525	0.58432	D	0.999996	B;B;B;B	0.20550	0.046;0.037;0.037;0.046	B;B;B;B	0.17098	0.017;0.01;0.01;0.017	T	0.47302	-0.9128	10	0.02654	T	1	-20.5003	19.2234	0.93808	0.0:1.0:0.0:0.0	.	473;476;473;476	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	V	476;476;473;473	ENSP00000445447:A476V;ENSP00000308928:A476V;ENSP00000381574:A473V	ENSP00000308928:A476V	A	+	2	0	CYLD	49371365	1.000000	0.71417	0.964000	0.40570	0.273000	0.26683	5.574000	0.67424	2.534000	0.85438	0.655000	0.94253	GCT		0.512	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			26	38	0	0	0	1	0	26	38				
PTPDC1	138639	broad.mit.edu	37	9	96847558	96847558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847558G>T	ENST00000375360.3	+	3	448	c.108G>T	c.(106-108)aaG>aaT	p.K36N	PTPDC1_ENST00000288976.3_Missense_Mutation_p.K88N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	36					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAACACCAAAGTACACAAAAG	0.433																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(106-108)aaG>aaT		protein tyrosine phosphatase domain containing 1							93.0	82.0	86.0					9																	96847558		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96847558G>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.108G>T	9.37:g.96847558G>T	ENSP00000364509:p.Lys36Asn					PTPDC1_ENST00000288976.3_Missense_Mutation_p.K88N	p.K36N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			3	448	+			36					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.108G>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.304014	0.60305	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.65549	-0.16;-0.16	5.51	-0.2	0.13216	.	0.049274	0.85682	D	0.000000	T	0.58736	0.2143	M	0.67953	2.075	0.40855	D	0.983788	P;P;P;P	0.46621	0.765;0.724;0.604;0.881	B;P;B;P	0.48166	0.353;0.474;0.282;0.569	T	0.54289	-0.8316	10	0.29301	T	0.29	-21.5598	6.127	0.20184	0.4407:0.1295:0.4298:0.0	.	90;88;90;36	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	N	36;88	ENSP00000364509:K36N;ENSP00000288976:K88N	ENSP00000288976:K88N	K	+	3	2	PTPDC1	95887379	1.000000	0.71417	0.992000	0.48379	0.843000	0.47879	1.112000	0.31172	0.097000	0.17492	-0.229000	0.12294	AAG		0.433	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		16	38	1	0	4.96729e-08	1	5.9048e-08	16	38				
KIAA1549	57670	broad.mit.edu	37	7	138603454	138603454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603454C>A	ENST00000422774.1	-	2	966	c.918G>T	c.(916-918)gaG>gaT	p.E306D	KIAA1549_ENST00000440172.1_Missense_Mutation_p.E306D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E256D			Q9HCM3	K1549_HUMAN	KIAA1549	306						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGTGAGACCTCCCCCAAGG	0.512			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(916-918)gaG>gaT		KIAA1549							74.0	77.0	76.0					7																	138603454		1965	4149	6114	SO:0001583	missense	57670					integral to membrane		g.chr7:138603454C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.918G>T	7.37:g.138603454C>A	ENSP00000416040:p.Glu306Asp					KIAA1549_ENST00000422774.1_Missense_Mutation_p.E306D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E256D	p.E306D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	966	-			306					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.918G>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371403	0.61624	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27720	1.65;1.67;1.66	4.57	3.69	0.42338	.	0.689779	0.12828	N	0.435898	T	0.24005	0.0581	L	0.29908	0.895	0.09310	N	1	P;P	0.44139	0.734;0.827	B;B	0.44133	0.257;0.442	T	0.06661	-1.0814	10	0.37606	T	0.19	.	6.2777	0.20989	0.0:0.7749:0.0:0.2251	.	306;306	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	306;256;306	ENSP00000406661:E306D;ENSP00000242365:E256D;ENSP00000416040:E306D	ENSP00000242365:E256D	E	-	3	2	KIAA1549	138253994	0.923000	0.31300	0.421000	0.26609	0.728000	0.41692	1.208000	0.32345	1.154000	0.42482	0.561000	0.74099	GAG		0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			11	88	1	0	9.70103e-10	1	1.18443e-09	11	88				
DNM1L	10059	broad.mit.edu	37	12	32871622	32871622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32871622C>T	ENST00000549701.1	+	7	739	c.665C>T	c.(664-666)gCg>gTg	p.A222V	DNM1L_ENST00000358214.5_Missense_Mutation_p.A235V|DNM1L_ENST00000266481.6_Missense_Mutation_p.A222V|DNM1L_ENST00000452533.2_Missense_Mutation_p.A222V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.A235V|DNM1L_ENST00000553257.1_Missense_Mutation_p.A235V|DNM1L_ENST00000547312.1_Missense_Mutation_p.A222V			O00429	DNM1L_HUMAN	dynamin 1-like	222	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.A222V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCATGGATGCGGGTACTGAT	0.383																																						ENST00000452533.2																			1	Substitution - Missense(1)	p.A222V(1)	large_intestine(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(664-666)gCg>gTg		dynamin 1-like							169.0	157.0	161.0					12																	32871622		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32871622C>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.665C>T	12.37:g.32871622C>T	ENSP00000450399:p.Ala222Val					DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.A222V|DNM1L_ENST00000553257.1_Missense_Mutation_p.A235V|DNM1L_ENST00000547312.1_Missense_Mutation_p.A222V|DNM1L_ENST00000381000.4_Missense_Mutation_p.A235V|DNM1L_ENST00000549701.1_Missense_Mutation_p.A222V|DNM1L_ENST00000358214.5_Missense_Mutation_p.A235V	p.A222V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			7	829	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		222			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.665C>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042236	0.75732	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000381000;ENST00000548750	D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.05	6.05	6.05	0.98169	Dynamin, GTPase domain (1);	0.044194	0.85682	D	0.000000	D	0.93546	0.7940	L	0.59436	1.845	0.80722	D	1	B;B;P;B;B	0.41848	0.391;0.391;0.763;0.391;0.124	B;B;B;B;B	0.32289	0.038;0.057;0.143;0.057;0.035	D	0.93144	0.6544	10	0.49607	T	0.09	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	275;275;288;275;222	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	V	222;288;222;235;222;235;222;222;235;193	ENSP00000415131:A222V;ENSP00000449089:A235V;ENSP00000450399:A222V;ENSP00000350948:A235V;ENSP00000266481:A222V;ENSP00000448610:A222V;ENSP00000370388:A235V;ENSP00000447788:A193V	ENSP00000266479:A222V	A	+	2	0	DNM1L	32762889	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.568000	0.82369	2.880000	0.98712	0.655000	0.94253	GCG		0.383	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		51	87	0	0	0	1	0	51	87				
GOLGA2	2801	broad.mit.edu	37	9	131019676	131019676	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131019676C>A	ENST00000421699.2	-	25	2778	c.2766G>T	c.(2764-2766)caG>caT	p.Q922H	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.Q910H	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	922					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCCAAGTTCCTGGGGGGCTG	0.667																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2764-2766)caG>caT		golgin A2							19.0	23.0	21.0					9																	131019676		2201	4292	6493	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131019676C>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2766G>T	9.37:g.131019676C>A	ENSP00000416097:p.Gln922His						p.Q922H	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			25	2778	-			922					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2766G>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	16.77	3.215613	0.58452	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.24723	1.84	4.8	0.736	0.18307	.	1.056740	0.07297	N	0.873384	T	0.55065	0.1897	M	0.88450	2.955	0.19300	N	0.999975	D;D	0.76494	0.999;0.964	D;P	0.75020	0.985;0.804	T	0.36286	-0.9754	10	0.72032	D	0.01	.	9.1876	0.37180	0.0:0.5994:0.0:0.4006	.	922;540	Q08379;Q08379-2	GOGA2_HUMAN;.	H	922;206	ENSP00000416097:Q922H	ENSP00000342692:Q206H	Q	-	3	2	GOLGA2	130059497	0.869000	0.29996	0.334000	0.25495	0.283000	0.27025	0.175000	0.16762	0.074000	0.16767	0.555000	0.69702	CAG		0.667	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		14	13	1	0	1.49906e-05	1	1.69169e-05	14	13				
MAGEA4	4103	broad.mit.edu	37	X	151092394	151092394	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092394G>T	ENST00000360243.2	+	3	525	c.258G>T	c.(256-258)gaG>gaT	p.E86D	MAGEA4_ENST00000370340.3_Missense_Mutation_p.E86D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E86D|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E86D|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E86D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	86										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAATGAGGGTTCCAGCA	0.572																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(256-258)gaG>gaT		melanoma antigen family A, 4							73.0	68.0	69.0					X																	151092394		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092394G>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.258G>T	X.37:g.151092394G>T	ENSP00000353379:p.Glu86Asp					MAGEA4_ENST00000276344.2_Missense_Mutation_p.E86D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000360243.2_Missense_Mutation_p.E86D|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E86D|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E86D	p.E86D			P43358	MAGA4_HUMAN			3	525	+	Acute lymphoblastic leukemia(192;6.56e-05)		86					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.258G>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805919	0.31961	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98	2.3	-1.87	0.07737	Melanoma associated antigen, MAGE, N-terminal (1);	1.707440	0.02924	N	0.138380	T	0.28234	0.0697	M	0.72624	2.21	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21008	-1.0258	10	0.56958	D	0.05	.	3.2948	0.06963	0.4675:0.2183:0.3142:0.0	.	86	P43358	MAGA4_HUMAN	D	86	ENSP00000387777:E86D;ENSP00000276344:E86D;ENSP00000391904:E86D;ENSP00000377498:E86D;ENSP00000394149:E86D;ENSP00000359362:E86D;ENSP00000402624:E86D;ENSP00000377497:E86D;ENSP00000359365:E86D;ENSP00000394073:E86D;ENSP00000400900:E86D;ENSP00000402186:E86D;ENSP00000359360:E86D;ENSP00000353379:E86D;ENSP00000390096:E86D	ENSP00000276344:E86D	E	+	3	2	MAGEA4	150843050	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.479000	0.02327	-0.709000	0.05008	0.436000	0.28706	GAG		0.572	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		5	75	1	0	5.9392e-07	1	6.91975e-07	5	75				
LAMC2	3918	broad.mit.edu	37	1	183206503	183206503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183206503G>T	ENST00000264144.4	+	18	2683	c.2618G>T	c.(2617-2619)aGg>aTg	p.R873M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R873M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	873	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAAGCAAAGAGGATCAAACAA	0.468																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2617-2619)aGg>aTg		laminin, gamma 2							85.0	84.0	84.0					1																	183206503		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183206503G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2618G>T	1.37:g.183206503G>T	ENSP00000264144:p.Arg873Met					LAMC2_ENST00000493293.1_Missense_Mutation_p.R873M	p.R873M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			18	2683	+			873			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2618G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711484	0.48517	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.18338	2.36;2.22	5.49	1.59	0.23543	.	0.418649	0.24935	N	0.034432	T	0.27967	0.0689	M	0.72118	2.19	0.29143	N	0.878903	P;P;P	0.52692	0.924;0.924;0.955	P;P;P	0.53360	0.533;0.459;0.724	T	0.10543	-1.0625	10	0.59425	D	0.04	.	8.5797	0.33621	0.3706:0.0:0.6294:0.0	.	873;873;873	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	M	873	ENSP00000432063:R873M;ENSP00000264144:R873M	ENSP00000264144:R873M	R	+	2	0	LAMC2	181473126	1.000000	0.71417	0.827000	0.32855	0.745000	0.42441	0.425000	0.21346	0.109000	0.17891	-0.126000	0.14955	AGG		0.468	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		13	15	1	0	0.000219431	1	0.000240782	13	15				
SPTLC3	55304	broad.mit.edu	37	20	13098296	13098296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13098296C>T	ENST00000399002.2	+	8	1350	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	359					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGACTAGACCCTCATGAAGTT	0.502																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1075-1077)cCt>cTt		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						96.0	97.0	97.0					20																	13098296		1893	4097	5990	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098296C>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1076C>T	20.37:g.13098296C>T	ENSP00000381968:p.Pro359Leu					SPTLC3_ENST00000378194.4_Intron	p.P359L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			8	1350	+			359					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1076C>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047821	0.93740	.	.	ENSG00000172296	ENST00000399002	D	0.96136	-3.92	6.16	6.16	0.99307	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96071	0.8720	M	0.63843	1.955	0.80722	D	1	P	0.40909	0.732	P	0.46585	0.521	D	0.95508	0.8583	10	0.66056	D	0.02	-16.3831	20.8598	0.99761	0.0:1.0:0.0:0.0	.	359	Q9NUV7	SPTC3_HUMAN	L	359	ENSP00000381968:P359L	ENSP00000381968:P359L	P	+	2	0	SPTLC3	13046296	1.000000	0.71417	0.989000	0.46669	0.857000	0.48899	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCT		0.502	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		33	59	0	0	0	1	0	33	59				
TTN	7273	broad.mit.edu	37	2	179414088	179414088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179414088G>A	ENST00000591111.1	-	289	87566	c.87342C>T	c.(87340-87342)atC>atT	p.I29114I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.I21690I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I21815I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I28187I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.I30755I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Silent_p.I21882I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29114	Fibronectin type-III 112. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTCAAGGATATACTGTT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92263-92265)atC>atT		titin							123.0	120.0	121.0					2																	179414088		1942	4142	6084	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414088G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87342C>T	2.37:g.179414088G>A						TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.I21690I|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Silent_p.I28187I|TTN_ENST00000359218.5_Silent_p.I21815I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I21882I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.I29114I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.I30755I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	92489	-			29114					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92265C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	64	0	0	0	1	0	25	64				
DSCAML1	57453	broad.mit.edu	37	11	117667814	117667814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117667814C>T	ENST00000321322.6	-	1	162	c.161G>A	c.(160-162)aGa>aAa	p.R54K	DSCAML1_ENST00000527706.1_5'Flank	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCCCTATTCTCCGGGGAGG	0.692																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(160-162)aGa>aAa		Down syndrome cell adhesion molecule like 1							33.0	31.0	32.0					11																	117667814		2201	4290	6491	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117667814C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.161G>A	11.37:g.117667814C>T	ENSP00000315465:p.Arg54Lys						p.R54K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	1	162	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	0			Ig-like C2-type 1.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.161G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046719	0.55110	.	.	ENSG00000177103	ENST00000321322	T	0.58940	0.3	4.69	2.76	0.32466	.	.	.	.	.	T	0.45256	0.1333	.	.	.	0.22666	N	0.998876	.	.	.	.	.	.	T	0.31503	-0.9941	5	.	.	.	.	5.3708	0.16138	0.0:0.6303:0.172:0.1977	.	.	.	.	K	54	ENSP00000315465:R54K	.	R	-	2	0	DSCAML1	117173024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.531000	0.23052	1.089000	0.41292	0.448000	0.29417	AGA		0.692	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		8	6	0	0	0	1	0	8	6				
CLCA2	9635	broad.mit.edu	37	1	86909576	86909576	+	Missense_Mutation	SNP	C	C	A	rs568257172		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86909576C>A	ENST00000370565.4	+	10	1757	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	532					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACGTGGCAGGCCAGTGGTCCT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17194	0.0		0.0	False		,,,				2504	0.0				Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1594-1596)gCc>gAc		chloride channel accessory 2							148.0	136.0	140.0					1																	86909576		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86909576C>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1595C>A	1.37:g.86909576C>A	ENSP00000359596:p.Ala532Asp						p.A532D	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	10	1757	+		Lung NSC(277;0.238)	532					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.1595C>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	3.122	-0.180326	0.06380	.	.	ENSG00000137975	ENST00000370565	T	0.30448	1.53	5.33	0.0644	0.14353	Domain of unknown function DUF1973 (1);	0.865757	0.10267	N	0.695203	T	0.04048	0.0113	N	0.16656	0.425	0.09310	N	1	B	0.13145	0.007	B	0.18871	0.023	T	0.43637	-0.9379	10	0.11794	T	0.64	-0.1646	2.6503	0.04996	0.1302:0.5256:0.1264:0.2178	.	532	Q9UQC9	CLCA2_HUMAN	D	532	ENSP00000359596:A532D	ENSP00000359596:A532D	A	+	2	0	CLCA2	86682164	0.000000	0.05858	0.027000	0.17364	0.033000	0.12548	-0.628000	0.05515	0.048000	0.15891	-0.172000	0.13284	GCC		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		52	122	1	0	2.52991e-16	1	3.26504e-16	52	122				
ZFHX3	463	broad.mit.edu	37	16	72828427	72828427	+	Silent	SNP	C	C	T	rs150499144	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72828427C>T	ENST00000268489.5	-	9	8826	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A	ZFHX3_ENST00000397992.5_Silent_p.A1804A|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2718					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTGAAGAGCGCTCTGCAAA	0.557																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8152-8154)gcG>gcA		zinc finger homeobox 3		C	,	0,4396		0,0,2198	77.0	67.0	70.0		5412,8154	-11.5	0.4	16	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,	1804/2790,2718/3704	72828427	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828427C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8154G>A	16.37:g.72828427C>T						ZFHX3_ENST00000397992.5_Silent_p.A1804A	p.A2718A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8826	-		Ovarian(137;0.13)	2718					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.8154G>A	CCDS10908.1																																																																																				0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		30	53	0	0	0	1	0	30	53				
OXCT1	5019	broad.mit.edu	37	5	41803250	41803250	+	Missense_Mutation	SNP	C	C	T	rs121909301		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41803250C>T	ENST00000196371.5	-	10	1131	c.971G>A	c.(970-972)gGa>gAa	p.G324E	OXCT1_ENST00000509987.1_Missense_Mutation_p.G138E	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	324			G -> E (in SCOTD). {ECO:0000269|PubMed:10964512}.		adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GAGAGGGATTCCTATGCCCAA	0.353																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28	GRCh37	CM005412	OXCT1	M	rs121909301	c.(970-972)gGa>gAa		3-oxoacid CoA transferase 1	Succinic acid(DB00139)	C	GLU/GLY	0,4406		0,0,2203	80.0	86.0	84.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	971	6.0	1.0	5	dbSNP_133	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	OXCT1	NM_000436.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	324/521	41803250	1,13005	2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41803250C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.971G>A	5.37:g.41803250C>T	ENSP00000196371:p.Gly324Glu					OXCT1_ENST00000509987.1_Missense_Mutation_p.G138E	p.G324E	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			10	1131	-			324		G -> E (in SCOTD).			B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.971G>A	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861844	0.91433	0.0	1.16E-4	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.97378	-4.36;-4.36	6.04	6.04	0.98038	3-oxoacid CoA-transferase, subunit B (1);	0.168607	0.51477	D	0.000093	D	0.99299	0.9755	H	0.99379	4.54	0.80722	A	1	D	0.89917	1.0	D	0.72338	0.977	D	0.98483	1.0606	9	0.87932	D	0	-18.1886	19.3663	0.94464	0.0:1.0:0.0:0.0	.	324	P55809	SCOT1_HUMAN	E	324;138	ENSP00000196371:G324E;ENSP00000425348:G138E	ENSP00000196371:G324E	G	-	2	0	OXCT1	41839007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	2.873000	0.98535	0.563000	0.77884	GGA		0.353	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		30	66	0	0	0	1	0	30	66				
ACLY	47	broad.mit.edu	37	17	40060989	40060989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40060989G>A	ENST00000352035.2	-	10	1188	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	ACLY_ENST00000590151.1_Missense_Mutation_p.T353M|ACLY_ENST00000393896.2_Missense_Mutation_p.T353M|ACLY_ENST00000353196.1_Missense_Mutation_p.T353M|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	353					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TACCTTGAACGTGGCAGCCAC	0.493																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1057-1059)aCg>aTg		ATP citrate lyase							104.0	85.0	91.0					17																	40060989		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40060989G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1058C>T	17.37:g.40060989G>A	ENSP00000253792:p.Thr353Met					ACLY_ENST00000590151.1_Missense_Mutation_p.T353M|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.T353M|ACLY_ENST00000353196.1_Missense_Mutation_p.T353M	p.T353M	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			10	1188	-		Breast(137;0.000143)	353					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1058C>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710288	0.68730	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	D;D;D	0.84442	-1.84;-1.85;-1.85	6.07	6.07	0.98685	Succinyl-CoA synthetase-like (2);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	H	0.94423	3.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;1.0;0.982	D	0.95418	0.8504	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	407;407;353;353	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	M	353;407;353;353	ENSP00000253792:T353M;ENSP00000345398:T353M;ENSP00000377474:T353M	ENSP00000253792:T353M	T	-	2	0	ACLY	37314515	1.000000	0.71417	0.965000	0.40720	0.019000	0.09904	9.837000	0.99465	2.884000	0.98904	0.655000	0.94253	ACG		0.493	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		17	23	0	0	0	1	0	17	23				
GTSF1L	149699	broad.mit.edu	37	20	42355251	42355251	+	Silent	SNP	C	C	T	rs187317274	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42355251C>T	ENST00000373003.1	-	1	387	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GTSF1L_ENST00000373005.2_Silent_p.S28S	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	28							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCTCCTGCACGATGCCAGGT	0.498													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.0					ENST00000373003.1																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(82-84)tcG>tcA		gametocyte specific factor 1-like							132.0	126.0	128.0					20																	42355251		2203	4300	6503	SO:0001819	synonymous_variant	149699						metal ion binding	g.chr20:42355251C>T	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.84G>A	20.37:g.42355251C>T						GTSF1L_ENST00000373005.2_Silent_p.S28S	p.S28S	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	387	-		Myeloproliferative disorder(115;0.00452)	28					Q5JWH5	Silent	SNP	ENST00000373003.1	37	c.84G>A	CCDS13323.1																																																																																				0.498	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		42	92	0	0	0	1	0	42	92				
CSMD2	114784	broad.mit.edu	37	1	34042963	34042963	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34042963G>A	ENST00000373381.4	-	49	7685	c.7509C>T	c.(7507-7509)agC>agT	p.S2503S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2505	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATGGCCATGCTGTGTCCCA	0.637																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7507-7509)agC>agT		CUB and Sushi multiple domains 2							71.0	72.0	72.0					1																	34042963		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34042963G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7509C>T	1.37:g.34042963G>A							p.S2503S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			49	7685	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2505			Sushi 14.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.7509C>T																																																																																					0.637	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		22	45	0	0	0	1	0	22	45				
TOR1AIP2	163590	broad.mit.edu	37	1	179834104	179834104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179834104G>A	ENST00000553856.1	-	1	207	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000609928.1_Intron	NM_022347.3	NP_071742.1	Q9H496	IFG15_HUMAN		70																	GCCCACTCAAGTGGGAAAGAC	0.443																																						ENST00000553856.1																			0											c.(208-210)Ctt>Ttt									145.0	142.0	143.0					1																	179834104		1858	4094	5952	SO:0001583	missense	0							g.chr1:179834104G>A																												ENST00000553856.1:c.208C>T	1.37:g.179834104G>A	ENSP00000452581:p.Leu70Phe					TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	p.L70F	NM_022347.3	NP_071742.1					1	207	-								Q05BU2	Missense_Mutation	SNP	ENST00000553856.1	37	c.208C>T	CCDS53439.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373234	0.42105	.	.	ENSG00000258664	ENST00000553856	.	.	.	4.79	3.87	0.44632	.	.	.	.	.	T	0.28366	0.0701	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08027	-1.0742	7	.	.	.	.	9.0198	0.36193	0.0978:0.0:0.9022:0.0	.	70	Q9H496	.	F	70	.	.	L	-	1	0	AL359853.3	178100727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.273000	0.43381	1.616000	0.50265	0.655000	0.94253	CTT		0.443	IFRG15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				26	140	0	0	0	1	0	26	140				
HECW1	23072	broad.mit.edu	37	7	43508613	43508613	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43508613A>T	ENST00000395891.2	+	16	3613	c.3008A>T	c.(3007-3009)aAc>aTc	p.N1003I	HECW1_ENST00000453890.1_Missense_Mutation_p.N969I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1003					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACCAGCACAACCGGGACTTG	0.532																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3007-3009)aAc>aTc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							84.0	83.0	83.0					7																	43508613		2024	4199	6223	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43508613A>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3008A>T	7.37:g.43508613A>T	ENSP00000379228:p.Asn1003Ile					HECW1_ENST00000453890.1_Missense_Mutation_p.N969I	p.N1003I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			16	3613	+			1003					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3008A>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739548	0.89573	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.85629	-2.01;-2.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	D	0.92912	0.6348	10	0.87932	D	0	.	15.7507	0.77983	1.0:0.0:0.0:0.0	.	969;1003	B4DH42;Q76N89	.;HECW1_HUMAN	I	1003;969;1003	ENSP00000379228:N1003I;ENSP00000407774:N969I	ENSP00000265522:N1003I	N	+	2	0	HECW1	43475138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.126000	0.65437	0.397000	0.26171	AAC		0.532	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		66	31	0	0	0	1	0	66	31				
SLC25A52	147407	broad.mit.edu	37	18	29340153	29340153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29340153A>G	ENST00000579441.2	-	1	471	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	SLC25A52_ENST00000269205.5_Missense_Mutation_p.Y168H			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	158					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AAAGCCTGATAAGTGTTGGTA	0.433																																						ENST00000269205.5																			0											c.(502-504)Tat>Cat		solute carrier family 25, member 52							164.0	153.0	157.0					18																	29340153		2203	4300	6503	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340153A>G		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.472T>C	18.37:g.29340153A>G	ENSP00000462754:p.Tyr158His					SLC25A52_ENST00000579441.2_Missense_Mutation_p.Y158H	p.Y168H	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	690	-			158						Missense_Mutation	SNP	ENST00000579441.2	37	c.502T>C		.	.	.	.	.	.	.	.	.	.	A	11.29	1.595142	0.28445	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.79352	-1.26	1.22	1.22	0.21188	Mitochondrial carrier domain (2);	0.527792	0.18636	N	0.135422	T	0.66137	0.2759	L	0.52126	1.63	0.29933	N	0.821751	B	0.15930	0.015	B	0.21546	0.035	T	0.53627	-0.8412	10	0.15952	T	0.53	.	6.57	0.22533	1.0:0.0:0.0:0.0	.	158	Q3SY17	MCAR2_HUMAN	H	168;158	ENSP00000372612:Y168H	ENSP00000372612:Y168H	Y	-	1	0	MCART2	27594151	0.920000	0.31207	0.925000	0.36789	0.802000	0.45316	1.941000	0.40233	0.821000	0.34540	0.414000	0.27820	TAT		0.433	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		7	158	0	0	0	1	0	7	158				
PLA2G3	50487	broad.mit.edu	37	22	31533810	31533810	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31533810A>T	ENST00000215885.3	-	4	1204	c.952T>A	c.(952-954)Tcc>Acc	p.S318T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	318					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGGCGCTTGGACCCTTTCTGA	0.672																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(952-954)Tcc>Acc		phospholipase A2, group III							116.0	128.0	124.0					22																	31533810		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31533810A>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.952T>A	22.37:g.31533810A>T	ENSP00000215885:p.Ser318Thr						p.S318T	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			4	1204	-			318					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.952T>A	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.729431	0.30684	.	.	ENSG00000100078	ENST00000215885	T	0.12255	2.7	4.2	-1.02	0.10135	.	0.657328	0.15359	N	0.266530	T	0.11281	0.0275	M	0.65975	2.015	0.09310	N	1	P	0.38922	0.651	B	0.33521	0.165	T	0.12863	-1.0531	10	0.42905	T	0.14	-14.0955	4.6538	0.12608	0.4537:0.322:0.2243:0.0	.	318	Q9NZ20	PA2G3_HUMAN	T	318	ENSP00000215885:S318T	ENSP00000215885:S318T	S	-	1	0	PLA2G3	29863810	0.001000	0.12720	0.000000	0.03702	0.084000	0.17831	0.112000	0.15479	-0.219000	0.10003	-0.290000	0.09829	TCC		0.672	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		56	99	0	0	0	1	0	56	99				
EZH2	2146	broad.mit.edu	37	7	148506461	148506461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148506461C>T	ENST00000460911.1	-	18	2124	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	EZH2_ENST00000476773.1_Missense_Mutation_p.R628H|EZH2_ENST00000350995.2_Missense_Mutation_p.R640H|EZH2_ENST00000320356.2_Missense_Mutation_p.R684H|EZH2_ENST00000541220.1_Missense_Mutation_p.R628H|EZH2_ENST00000478654.1_Missense_Mutation_p.R628H|EZH2_ENST00000483967.1_Missense_Mutation_p.R670H			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	679	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R684H(1)|p.R640H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTACCCTTGCGGGTTGCATC	0.358			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		2	Substitution - Missense(2)	p.R684H(1)|p.R640H(1)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(2050-2052)cGc>cAc		enhancer of zeste homolog 2 (Drosophila)							100.0	101.0	101.0					7																	148506461		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148506461C>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2036G>A	7.37:g.148506461C>T	ENSP00000419711:p.Arg679His					EZH2_ENST00000541220.1_Missense_Mutation_p.R628H|EZH2_ENST00000350995.2_Missense_Mutation_p.R640H|EZH2_ENST00000478654.1_Missense_Mutation_p.R628H|EZH2_ENST00000460911.1_Missense_Mutation_p.R679H|EZH2_ENST00000476773.1_Missense_Mutation_p.R628H|EZH2_ENST00000483967.1_Missense_Mutation_p.R670H	p.R684H	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		18	2172	-	Melanoma(164;0.15)		679			SET.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.2051G>A	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.106492	0.77096	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.89810	-2.57;-1.36;-1.36;-1.36;-2.57;-2.57;-1.36	5.13	5.13	0.70059	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	M	0.71581	2.175	0.80722	D	1	D;P;B;P;B	0.76494	0.999;0.633;0.243;0.862;0.016	P;B;B;B;B	0.62885	0.908;0.303;0.183;0.241;0.004	D	0.94169	0.7421	10	0.72032	D	0.01	.	18.5938	0.91223	0.0:1.0:0.0:0.0	.	670;628;679;640;684	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	H	628;684;679;640;628;628;670	ENSP00000417062:R628H;ENSP00000320147:R684H;ENSP00000419711:R679H;ENSP00000223193:R640H;ENSP00000443219:R628H;ENSP00000419050:R628H;ENSP00000419856:R670H	ENSP00000320147:R684H	R	-	2	0	EZH2	148137394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.574000	0.82434	2.375000	0.81037	0.655000	0.94253	CGC		0.358	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		40	124	0	0	0	1	0	40	124				
SLC9A2	6549	broad.mit.edu	37	2	103300674	103300674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103300674G>A	ENST00000233969.2	+	5	1446	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	435					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATTGCCTATGGAGGACTTCGA	0.448																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1303-1305)gGa>gAa		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							233.0	212.0	219.0					2																	103300674		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103300674G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1304G>A	2.37:g.103300674G>A	ENSP00000233969:p.Gly435Glu						p.G435E	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			5	1446	+			435					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1304G>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983907	0.93044	.	.	ENSG00000115616	ENST00000233969	T	0.18657	2.2	5.82	5.82	0.92795	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68652	-0.5352	10	0.87932	D	0	.	20.088	0.97803	0.0:0.0:1.0:0.0	.	435	Q9UBY0	SL9A2_HUMAN	E	435	ENSP00000233969:G435E	ENSP00000233969:G435E	G	+	2	0	SLC9A2	102667106	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	9.397000	0.97276	2.739000	0.93911	0.655000	0.94253	GGA		0.448	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			45	95	0	0	0	1	0	45	95				
PSEN2	5664	broad.mit.edu	37	1	227071420	227071420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227071420C>T	ENST00000366783.3	+	5	592	c.156C>T	c.(154-156)aaC>aaT	p.N52N	PSEN2_ENST00000340188.4_Silent_p.N52N|PSEN2_ENST00000422240.2_Silent_p.N52N|PSEN2_ENST00000391872.2_Silent_p.N85N|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000366782.1_Silent_p.N85N	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	52					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GCCAGGAGAACGAGGAGGACG	0.592																																						ENST00000366782.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(253-255)aaC>aaT		presenilin 2 (Alzheimer disease 4)							47.0	44.0	45.0					1																	227071420		2203	4300	6503	SO:0001819	synonymous_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227071420C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.156C>T	1.37:g.227071420C>T						PSEN2_ENST00000422240.2_Silent_p.N52N|PSEN2_ENST00000391872.2_Silent_p.N85N|PSEN2_ENST00000366783.3_Silent_p.N52N|PSEN2_ENST00000340188.4_Silent_p.N52N	p.N85N			P49810	PSN2_HUMAN			5	755	+		Prostate(94;0.0771)	52					A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	c.255C>T	CCDS1556.1																																																																																				0.592	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		9	17	0	0	0	1	0	9	17				
SLC26A5	375611	broad.mit.edu	37	7	103015035	103015035	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103015035T>C	ENST00000306312.3	-	20	2307	c.2046A>G	c.(2044-2046)caA>caG	p.Q682Q	SLC26A5_ENST00000354356.4_Silent_p.Q115Q|SLC26A5_ENST00000393723.1_Silent_p.Q652Q|SLC26A5_ENST00000393730.1_Silent_p.Q650Q|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000432958.2_Silent_p.Q650Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393727.1_Silent_p.Q684Q|SLC26A5_ENST00000393729.1_Silent_p.Q645Q	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	682	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CATTCACAACTTGTGCTATTA	0.353																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(2044-2046)caA>caG		solute carrier family 26 (anion exchanger), member 5							45.0	49.0	48.0					7																	103015035		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103015035T>C	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2046A>G	7.37:g.103015035T>C						SLC26A5_ENST00000354356.4_Silent_p.Q115Q|SLC26A5_ENST00000393723.1_Silent_p.Q652Q|SLC26A5_ENST00000432958.2_Silent_p.Q650Q|SLC26A5_ENST00000393727.1_Silent_p.Q684Q|SLC26A5_ENST00000393729.1_Silent_p.Q645Q|SLC26A5_ENST00000393730.1_Silent_p.Q650Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	p.Q682Q	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			20	2307	-			682			STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.2046A>G	CCDS5733.1																																																																																				0.353	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		3	74	0	0	0	1	0	3	74				
ZNF14	7561	broad.mit.edu	37	19	19822999	19822999	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822999T>C	ENST00000344099.3	-	4	1229	c.1091A>G	c.(1090-1092)gAa>gGa	p.E364G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCGTTTACATTCATATGGTTT	0.388																																						ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1090-1092)gAa>gGa		zinc finger protein 14							86.0	86.0	86.0					19																	19822999		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822999T>C	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1091A>G	19.37:g.19822999T>C	ENSP00000340514:p.Glu364Gly						p.E364G	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1229	-		Renal(1328;0.0474)	364					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1091A>G	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174385	0.57692	.	.	ENSG00000105708	ENST00000344099	T	0.07688	3.17	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	L	0.43598	1.365	0.22226	N	0.999278	D	0.57571	0.98	P	0.55749	0.783	T	0.15752	-1.0426	9	0.48119	T	0.1	.	4.7734	0.13167	0.0:0.0:0.3275:0.6725	.	364	P17017	ZNF14_HUMAN	G	364	ENSP00000340514:E364G	ENSP00000340514:E364G	E	-	2	0	ZNF14	19683999	0.000000	0.05858	0.629000	0.29254	0.666000	0.39218	-0.304000	0.08199	0.855000	0.35359	0.383000	0.25322	GAA		0.388	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		27	47	0	0	0	1	0	27	47				
MYT1L	23040	broad.mit.edu	37	2	1795747	1795747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1795747G>A	ENST00000399161.2	-	25	4200	c.3453C>T	c.(3451-3453)taC>taT	p.Y1151Y	MYT1L_ENST00000428368.2_Silent_p.Y1149Y|MYT1L_ENST00000407844.1_Silent_p.Y149Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1151					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAGTAGTCACGTAAGCATCAA	0.308																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3451-3453)taC>taT		myelin transcription factor 1-like							90.0	78.0	81.0					2																	1795747		1825	4084	5909	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1795747G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3453C>T	2.37:g.1795747G>A						MYT1L_ENST00000407844.1_Silent_p.Y149Y|MYT1L_ENST00000428368.2_Silent_p.Y1149Y	p.Y1151Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	25	4200	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1151					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.3453C>T																																																																																					0.308	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		11	13	0	0	0	1	0	11	13				
MIR520A	574467	broad.mit.edu	37	19	54191763	54191763	+	RNA	SNP	G	G	A	rs199506848		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54191763G>A	ENST00000384862.1	+	0	0				MIR1283-1_ENST00000408494.1_RNA|MIR519C_ENST00000385053.1_RNA	NR_030189.1				microRNA 520a																		AAAGGAAAGCGCTTTCTGTTG	0.408																																						ENST00000408494.1																			0																				117.0	105.0	109.0					19																	54191763		1568	3582	5150			0							g.chr19:54191763G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207594	ENSG00000207594		"""ncRNAs / Micro RNAs"""	32099	non-coding RNA	RNA, micro				MIRN520A			Standard	NR_030189		Approved	hsa-mir-520a	uc021uzs.1				19.37:g.54191763G>A								NR_031573.1						0	29	+									RNA	SNP	ENST00000384862.1	37																																																																																						0.408	MIR520A-201	KNOWN	basic	miRNA	miRNA		NR_030189		4	85	0	0	0	1	0	4	85				
GGT5	2687	broad.mit.edu	37	22	24616068	24616068	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24616068A>T	ENST00000327365.4	-	12	2047	c.1631T>A	c.(1630-1632)cTc>cAc	p.L544H	GGT5_ENST00000398292.3_Missense_Mutation_p.L545H|GGT5_ENST00000418439.2_Missense_Mutation_p.L468H|GGT5_ENST00000263112.7_Missense_Mutation_p.L512H	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	544					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ACGGTCTTGGAGTCCCCTCTG	0.617																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1630-1632)cTc>cAc		gamma-glutamyltransferase 5							72.0	51.0	58.0					22																	24616068		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24616068A>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1631T>A	22.37:g.24616068A>T	ENSP00000330080:p.Leu544His					GGT5_ENST00000398292.3_Missense_Mutation_p.L545H|GGT5_ENST00000263112.7_Missense_Mutation_p.L512H|GGT5_ENST00000418439.2_Missense_Mutation_p.L468H	p.L544H	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			12	2047	-			544					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1631T>A	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.933578|3.933578	0.73442|0.73442	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439|ENST00000425408	T;T;T;T|.	0.32988|.	1.43;1.43;1.43;1.43|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.068017|.	0.64402|.	D|.	0.000011|.	D|D	0.85292|0.85292	0.5663|0.5663	H|H	0.95574|0.95574	3.69|3.69	0.48901|0.48901	D|D	0.999725|0.999725	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.88738|0.88738	0.3241|0.3241	10|5	0.87932|.	D|.	0|.	-28.4705|-28.4705	11.1823|11.1823	0.48636|0.48636	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	468;512;545;544|.	E7EUG3;P36269-2;Q6GMP0;P36269|.	.;.;.;GGT5_HUMAN|.	H|T	544;512;459;545;468|178	ENSP00000330080:L544H;ENSP00000263112:L512H;ENSP00000381340:L545H;ENSP00000392146:L468H|.	ENSP00000263112:L512H|.	L|S	-|-	2|1	0|0	GGT5|GGT5	22946068|22946068	0.999000|0.999000	0.42202|0.42202	0.713000|0.713000	0.30519|0.30519	0.224000|0.224000	0.24922|0.24922	5.481000|5.481000	0.66826|0.66826	2.064000|2.064000	0.61679|0.61679	0.529000|0.529000	0.55759|0.55759	CTC|TCC		0.617	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		11	23	0	0	0	1	0	11	23				
C20orf96	140680	broad.mit.edu	37	20	257686	257686	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000382369.5_Splice_Site_p.A240V|C20orf96_ENST00000400269.3_Splice_Site_p.A217V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.e8+1		chromosome 20 open reading frame 96							121.0	135.0	130.0					20																	257686		2203	4300	6503	SO:0001630	splice_region_variant	140680							g.chr20:257686G>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.825+1C>T	20.37:g.257686G>A						C20orf96_ENST00000382369.5_Splice_Site_p.A240_splice|C20orf96_ENST00000400269.3_Splice_Site_p.A217_splice	p.A275_splice	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	962	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	275					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Splice_Site	SNP	ENST00000360321.2	37	c.825_splice	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	G	2.159	-0.392647	0.04899	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.40225	1.04;1.04;1.04	4.52	-5.41	0.02648	.	1.137630	0.06635	N	0.759972	T	0.10508	0.0257	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.20052	0.041;0.041;0.015;0.041	B;B;B;B	0.11329	0.006;0.006;0.003;0.006	T	0.28744	-1.0034	10	0.02654	T	1	-0.4171	4.6073	0.12383	0.2215:0.0:0.1966:0.5818	.	217;240;275;240	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	V	240;275;217	ENSP00000371806:A240V;ENSP00000353470:A275V;ENSP00000383128:A217V	ENSP00000353470:A275V	A	-	2	0	C20orf96	205686	0.002000	0.14202	0.026000	0.17262	0.173000	0.22820	-0.258000	0.08733	-0.734000	0.04843	0.313000	0.20887	GCG		0.572	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269	Missense_Mutation	81	118	0	0	0	1	0	81	118				
MUC15	143662	broad.mit.edu	37	11	26582625	26582625	+	Missense_Mutation	SNP	C	C	T	rs560016592		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26582625C>T	ENST00000455601.2	-	4	1110	c.992G>A	c.(991-993)cGt>cAt	p.R331H	MUC15_ENST00000529533.1_Missense_Mutation_p.R358H|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.R308H|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.R308H|MUC15_ENST00000436318.2_Missense_Mutation_p.R358H	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	331					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R331H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TACAGAAGTACGAAGTGGAGG	0.378																																						ENST00000436318.2																			2	Substitution - Missense(2)	p.R331H(2)	lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1072-1074)cGt>cAt		mucin 15, cell surface associated							178.0	163.0	168.0					11																	26582625		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26582625C>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.992G>A	11.37:g.26582625C>T	ENSP00000397339:p.Arg331His					MUC15_ENST00000529533.1_Missense_Mutation_p.R358H|MUC15_ENST00000455601.2_Missense_Mutation_p.R331H|MUC15_ENST00000281268.8_Missense_Mutation_p.R308H|MUC15_ENST00000527569.1_Missense_Mutation_p.R308H|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron	p.R358H			Q8N387	MUC15_HUMAN			4	1206	-			331					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.1073G>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997644	0.35226	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.39787	1.11;1.06;1.11;1.06;1.11	5.33	2.29	0.28610	.	0.000000	0.49916	D	0.000136	T	0.36663	0.0975	L	0.32530	0.975	0.09310	N	0.999999	D;P;P	0.69078	0.997;0.917;0.917	P;B;B	0.52598	0.703;0.291;0.291	T	0.15435	-1.0437	10	0.87932	D	0	-10.0199	4.5326	0.12013	0.1475:0.539:0.0:0.3135	.	308;331;358	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	H	331;358;308;358;308	ENSP00000397339:R331H;ENSP00000416753:R358H;ENSP00000281268:R308H;ENSP00000431983:R358H;ENSP00000431945:R308H	ENSP00000281268:R308H	R	-	2	0	MUC15	26539201	0.450000	0.25697	0.686000	0.30086	0.099000	0.18886	0.682000	0.25335	0.755000	0.32990	-0.186000	0.12905	CGT		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		32	54	0	0	0	1	0	32	54				
SNW1	22938	broad.mit.edu	37	14	78202306	78202306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78202306G>A	ENST00000261531.7	-	7	744	c.682C>T	c.(682-684)Cct>Tct	p.P228S	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P66S|SNW1_ENST00000555761.1_Missense_Mutation_p.P228S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	228	Pro-rich.|SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGCATGACAGGCGCAGGAGGA	0.388																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(682-684)Cct>Tct		SNW domain containing 1							56.0	66.0	63.0					14																	78202306		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78202306G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.682C>T	14.37:g.78202306G>A	ENSP00000261531:p.Pro228Ser					SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P228S|SNW1_ENST00000554775.1_Missense_Mutation_p.P66S	p.P228S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	7	744	-			228			Pro-rich.|SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.682C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191942	0.94923	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259	.	.	.	5.65	5.65	0.86999	SKI-interacting protein SKIP, SNW domain (1);	0.000000	0.85682	D	0.000000	D	0.89543	0.6745	H	0.95437	3.67	0.80722	D	1	D;P	0.67145	0.996;0.474	D;B	0.76071	0.987;0.285	D	0.91549	0.5255	9	0.66056	D	0.02	.	20.1398	0.98056	0.0:0.0:1.0:0.0	.	228;228	G3V3A4;Q13573	.;SNW1_HUMAN	S	228;66;228;228	.	ENSP00000261531:P228S	P	-	1	0	SNW1	77272059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.770000	0.98971	2.843000	0.97960	0.585000	0.79938	CCT		0.388	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		8	16	0	0	0	1	0	8	16				
ITPR2	3709	broad.mit.edu	37	12	26755303	26755303	+	Splice_Site	SNP	C	C	A	rs374563640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26755303C>A	ENST00000381340.3	-	28	4094	c.3678G>T	c.(3676-3678)aaG>aaT	p.K1226N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1226					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAGGACTAACCTTTTCATAGG	0.328																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.e28+1		inositol 1,4,5-trisphosphate receptor, type 2							87.0	82.0	83.0					12																	26755303		1820	4078	5898	SO:0001630	splice_region_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26755303C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3678+1G>T	12.37:g.26755303C>A							p.K1226_splice	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			28	4094	-	Colorectal(261;0.0847)		1226					O94773	Splice_Site	SNP	ENST00000381340.3	37	c.3678_splice	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770228	0.69992	.	.	ENSG00000123104	ENST00000381340	D	0.90444	-2.67	5.2	5.2	0.72013	Intracellular calcium-release channel (1);	0.193892	0.53938	D	0.000051	D	0.94601	0.8260	M	0.72118	2.19	0.80722	D	1	D	0.60160	0.987	D	0.66497	0.944	D	0.93910	0.7196	9	.	.	.	.	18.9316	0.92568	0.0:1.0:0.0:0.0	.	1226	Q14571	ITPR2_HUMAN	N	1226	ENSP00000370744:K1226N	.	K	-	3	2	ITPR2	26646570	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.432000	0.80349	2.691000	0.91804	0.655000	0.94253	AAG		0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Missense_Mutation	9	80	1	0	2.17888e-05	1	2.45068e-05	9	80				
CLIP1	6249	broad.mit.edu	37	12	122812815	122812815	+	Missense_Mutation	SNP	G	G	A	rs201670489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122812815G>A	ENST00000540338.1	-	15	3067	c.3026C>T	c.(3025-3027)tCg>tTg	p.S1009L	CLIP1_ENST00000358808.2_Missense_Mutation_p.S998L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S998L|CLIP1_ENST00000545889.1_Missense_Mutation_p.S584L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S963L|CLIP1_ENST00000361654.4_Missense_Mutation_p.S887L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1009					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TACCAGGTCCGACAATTTCCT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16266	0.0		0.0	False		,,,				2504	0.0					ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2992-2994)tCg>tTg		CAP-GLY domain containing linker protein 1							342.0	340.0	340.0					12																	122812815		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812815G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3026C>T	12.37:g.122812815G>A	ENSP00000439093:p.Ser1009Leu					CLIP1_ENST00000361654.4_Missense_Mutation_p.S887L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S963L|CLIP1_ENST00000545889.1_Missense_Mutation_p.S584L|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1009L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S998L	p.S998L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	15	3147	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1009					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.2993C>T	CCDS58285.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.023	-1.403351	0.01165	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.51071	2.83;0.72;0.72;0.73;0.75	5.25	-2.17	0.07059	.	1.336580	0.04802	N	0.433710	T	0.23249	0.0562	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.15809	-1.0424	10	0.27785	T	0.31	1.1954	7.6257	0.28210	0.5211:0.1133:0.3657:0.0	.	963;998;1009	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	L	584;998;998;728;40;963;1009	ENSP00000438743:S584L;ENSP00000303585:S998L;ENSP00000351665:S998L;ENSP00000445531:S963L;ENSP00000439093:S1009L	ENSP00000303585:S998L	S	-	2	0	CLIP1	121378768	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.621000	0.05559	-0.484000	0.06763	-0.459000	0.05422	TCG		0.478	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		162	251	0	0	0	1	0	162	251				
VWA3B	200403	broad.mit.edu	37	2	98834390	98834390	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98834390A>C	ENST00000477737.1	+	14	2122	c.1918A>C	c.(1918-1920)Att>Ctt	p.I640L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	640	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGATGAGATTGCAAACAG	0.403																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1918-1920)Att>Ctt		von Willebrand factor A domain containing 3B							121.0	112.0	115.0					2																	98834390		1833	4096	5929	SO:0001583	missense	200403							g.chr2:98834390A>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1918A>C	2.37:g.98834390A>C	ENSP00000417955:p.Ile640Leu						p.I640L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			14	2122	+			640			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1918A>C	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.16|11.16	1.556618|1.556618	0.27827|0.27827	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.06687	.|3.27	5.77|5.77	-3.96|-3.96	0.04106|0.04106	.|von Willebrand factor, type A (3);	.|1.580120	.|0.03851	.|N	.|0.272334	T|T	0.05868|0.05868	0.0153|0.0153	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.11235	.|0.002;0.004;0.0;0.002	.|B;B;B;B	.|0.09377	.|0.004;0.004;0.002;0.004	T|T	0.42932|0.42932	-0.9422|-0.9422	5|10	.|0.09590	.|T	.|0.72	.|.	10.0346|10.0346	0.42120|0.42120	0.2088:0.148:0.6432:0.0|0.2088:0.148:0.6432:0.0	.|.	.|32;640;640;640	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	A|L	50|640	.|ENSP00000417955:I640L	.|ENSP00000417955:I640L	D|I	+|+	2|1	0|0	VWA3B|VWA3B	98200822|98200822	0.995000|0.995000	0.38212|0.38212	0.900000|0.900000	0.35374|0.35374	0.588000|0.588000	0.36517|0.36517	0.308000|0.308000	0.19314|0.19314	-0.644000|-0.644000	0.05465|0.05465	-0.290000|-0.290000	0.09829|0.09829	GAT|ATT		0.403	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		3	51	0	0	0	1	0	3	51				
UHRF1BP1	54887	broad.mit.edu	37	6	34831966	34831966	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34831966T>G	ENST00000192788.5	+	15	3574	c.3403T>G	c.(3403-3405)Ttg>Gtg	p.L1135V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1135V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1135							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGATGCTCTTGGAGTCTGG	0.507																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3403-3405)Ttg>Gtg		UHRF1 binding protein 1							120.0	122.0	121.0					6																	34831966		2059	4210	6269	SO:0001583	missense	54887							g.chr6:34831966T>G	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3403T>G	6.37:g.34831966T>G	ENSP00000192788:p.Leu1135Val					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1135V	p.L1135V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			15	3574	+			1135					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.3403T>G	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657402	0.29425	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08984	3.03;3.03	6.04	-3.72	0.04411	.	0.412408	0.24625	N	0.036922	T	0.01353	0.0044	L	0.44542	1.39	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.46386	-0.9195	10	0.21014	T	0.42	-2.9383	1.6663	0.02802	0.2259:0.3572:0.2117:0.2052	.	1135	Q6BDS2	URFB1_HUMAN	V	1135	ENSP00000192788:L1135V;ENSP00000400628:L1135V	ENSP00000192788:L1135V	L	+	1	2	UHRF1BP1	34939944	0.000000	0.05858	0.398000	0.26321	0.969000	0.65631	-0.353000	0.07691	-0.638000	0.05509	-0.379000	0.06801	TTG		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		5	69	0	0	0	1	0	5	69				
LRFN5	145581	broad.mit.edu	37	14	42356285	42356285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356285G>A	ENST00000298119.4	+	3	1646	c.457G>A	c.(457-459)Gat>Aat	p.D153N	LRFN5_ENST00000554120.1_Missense_Mutation_p.D153N|LRFN5_ENST00000554171.1_Missense_Mutation_p.D153N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	153						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGGAGCTGGATCTGTCCTA	0.393										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(457-459)Gat>Aat		leucine rich repeat and fibronectin type III domain containing 5							87.0	76.0	80.0					14																	42356285		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356285G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.457G>A	14.37:g.42356285G>A	ENSP00000298119:p.Asp153Asn	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.D153N|LRFN5_ENST00000554120.1_Missense_Mutation_p.D153N	p.D153N			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2889	+			153					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.457G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195307	0.78902	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53640	0.61;0.61;0.61	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000017	T	0.59945	0.2231	L	0.33245	0.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62234	-0.6897	10	0.72032	D	0.01	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	153;153	G3V364;Q96NI6	.;LRFN5_HUMAN	N	153	ENSP00000298119:D153N;ENSP00000451897:D153N;ENSP00000451067:D153N	ENSP00000298119:D153N	D	+	1	0	LRFN5	41426035	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GAT		0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		9	51	0	0	0	1	0	9	51				
C10orf90	118611	broad.mit.edu	37	10	128147787	128147787	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128147787C>T	ENST00000284694.7	-	6	1840		c.e6-1		C10orf90_ENST00000454341.1_Splice_Site|C10orf90_ENST00000544758.1_Splice_Site|C10orf90_ENST00000480379.1_Splice_Site|C10orf90_ENST00000356858.3_Splice_Site	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90						mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCAGTGCTTCCTATGCAAAGC	0.483																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.e6-1		chromosome 10 open reading frame 90							112.0	98.0	103.0					10																	128147787		2203	4300	6503	SO:0001630	splice_region_variant	118611							g.chr10:128147787C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1720-1G>A	10.37:g.128147787C>T						C10orf90_ENST00000454341.1_Splice_Site|C10orf90_ENST00000480379.1_Splice_Site|C10orf90_ENST00000544758.1_Splice_Site|C10orf90_ENST00000356858.3_Splice_Site		NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	1840	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)						B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Splice_Site	SNP	ENST00000284694.7	37		CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206319	0.22205	.	.	ENSG00000154493	ENST00000356858;ENST00000424927;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8626	0.70392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf90	128137777	1.000000	0.71417	0.988000	0.46212	0.063000	0.16089	4.770000	0.62309	2.508000	0.84585	0.655000	0.94253	.		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	Intron	9	63	0	0	0	1	0	9	63				
FAM19A2	338811	broad.mit.edu	37	12	62147416	62147416	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62147416A>C	ENST00000416284.3	-	4	1955	c.371T>G	c.(370-372)gTc>gGc	p.V124G	FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.V124G|FAM19A2_ENST00000550003.1_Missense_Mutation_p.V27G	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	124						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AGTTGTTTTGACTTTATTCCC	0.433																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(370-372)gTc>gGc		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							124.0	107.0	113.0					12																	62147416		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62147416A>C	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.371T>G	12.37:g.62147416A>C	ENSP00000393987:p.Val124Gly					FAM19A2_ENST00000550003.1_Missense_Mutation_p.V27G|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.V124G	p.V124G	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	4	1955	-			124					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.371T>G	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374818	0.61735	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000550003	.	.	.	4.64	4.64	0.57946	.	0.075788	0.56097	D	0.000039	T	0.75831	0.3903	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	D	0.67548	0.952	T	0.77143	-0.2696	8	.	.	.	.	14.0949	0.65013	1.0:0.0:0.0:0.0	.	124	Q8N3H0	F19A2_HUMAN	G	124;124;27	.	.	V	-	2	0	FAM19A2	60433683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.170000	0.94795	1.743000	0.51761	0.455000	0.32223	GTC		0.433	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		25	42	0	0	0	1	0	25	42				
ACSL4	2182	broad.mit.edu	37	X	108917675	108917675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108917675C>A	ENST00000469796.2	-	9	1477	c.1081G>T	c.(1081-1083)Gga>Tga	p.G361*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G320*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.G361*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	361					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GTACAGTCTCCTTTGCTTCCT	0.308																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1081-1083)Gga>Tga		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						82.0	75.0	78.0					X																	108917675		2203	4299	6502	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108917675C>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1081G>T	X.37:g.108917675C>A	ENSP00000419171:p.Gly361*					ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G320*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.G361*	p.G361*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			10	1585	-			361					D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.1081G>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	44	10.577691	0.99431	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.2608	18.6289	0.91352	0.0:1.0:0.0:0.0	.	.	.	.	X	320;361;361	.	ENSP00000339787:G361X	G	-	1	0	ACSL4	108804331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.769000	0.85360	2.343000	0.79666	0.600000	0.82982	GGA		0.308	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		5	41	1	0	0.217242	1	0.218821	5	41				
TRIP11	9321	broad.mit.edu	37	14	92471958	92471958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92471958C>T	ENST00000267622.4	-	11	2735	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	788					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTTTATGGTCAGTATCCATT	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2362-2364)Gac>Aac		thyroid hormone receptor interactor 11							148.0	149.0	149.0					14																	92471958		2203	4299	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471958C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2362G>A	14.37:g.92471958C>T	ENSP00000267622:p.Asp788Asn						p.D788N	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2735	-			788					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2362G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443547	0.43429	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.15718	2.4	5.77	1.94	0.25998	.	0.399227	0.28834	N	0.013982	T	0.26268	0.0641	L	0.61218	1.895	0.38491	D	0.947962	B;D	0.61697	0.016;0.99	B;P	0.56216	0.016;0.794	T	0.03673	-1.1014	10	0.33940	T	0.23	.	7.5535	0.27810	0.0:0.6824:0.12:0.1975	.	524;788	F5H1Z0;Q15643	.;TRIPB_HUMAN	N	788;524	ENSP00000267622:D788N	ENSP00000267622:D788N	D	-	1	0	TRIP11	91541711	0.911000	0.30947	0.000000	0.03702	0.630000	0.37929	2.080000	0.41586	0.094000	0.17404	0.305000	0.20034	GAC		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			50	112	0	0	0	1	0	50	112				
SLC4A5	57835	broad.mit.edu	37	2	74466478	74466478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74466478C>T	ENST00000377634.4	-	21	2702	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	SLC4A5_ENST00000357822.5_Missense_Mutation_p.R768H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R704H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R704H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R768H|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R768H|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAAAATAGCGGCTGAATTT	0.522																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2302-2304)cGc>cAc		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							81.0	79.0	79.0					2																	74466478		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74466478C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2303G>A	2.37:g.74466478C>T	ENSP00000366861:p.Arg768His					SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R704H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R704H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R768H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R768H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R768H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R768H	p.R768H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			21	2700	-			768						Missense_Mutation	SNP	ENST00000377634.4	37	c.2303G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147207	0.77888	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.46	4.59	0.56863	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86414	0.5927	L	0.60957	1.885	0.58432	D	0.99999	D;D;D;D;D	0.89917	0.971;1.0;1.0;1.0;0.972	B;D;D;D;P	0.97110	0.445;1.0;0.982;1.0;0.828	D	0.85724	0.1327	10	0.41790	T	0.15	.	12.1443	0.54014	0.0:0.918:0.0:0.082	.	768;768;704;768;768	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	H	768;768;768;704;768;704;768;768;768;768	ENSP00000377587:R768H;ENSP00000251768:R768H;ENSP00000352461:R704H;ENSP00000395804:R768H;ENSP00000351513:R704H;ENSP00000350475:R768H;ENSP00000366859:R768H;ENSP00000366861:R768H;ENSP00000405678:R768H	ENSP00000251768:R768H	R	-	2	0	SLC4A5	74319986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.823000	0.55715	1.543000	0.49345	0.655000	0.94253	CGC		0.522	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			15	23	0	0	0	1	0	15	23				
FASN	2194	broad.mit.edu	37	17	80045228	80045228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045228G>A	ENST00000306749.2	-	20	3414	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1066					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGTGTGTACAGCTTCTGCCTG	0.662																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3196-3198)Ctg>Ttg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						115.0	84.0	94.0					17																	80045228		2201	4298	6499	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045228G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3196C>T	17.37:g.80045228G>A							p.L1066L	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		20	3414	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1066					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.3196C>T	CCDS11801.1																																																																																				0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		6	29	0	0	0	1	0	6	29				
NACA	4666	broad.mit.edu	37	12	57111806	57111806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57111806C>T	ENST00000454682.1	-	3	3789	c.3508G>A	c.(3508-3510)Ggg>Agg	p.G1170R	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1170	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTGGGGGCCCCTTTTGGGGGT	0.622			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3508-3510)Ggg>Agg		nascent polypeptide-associated complex alpha subunit							62.0	71.0	68.0					12																	57111806		1125	2669	3794	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111806C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3508G>A	12.37:g.57111806C>T	ENSP00000403817:p.Gly1170Arg					NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	p.G1170R	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3789	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3508G>A		.	.	.	.	.	.	.	.	.	.	c	4.831	0.154540	0.09236	.	.	ENSG00000196531	ENST00000454682	T	0.54866	0.55	2.63	0.118	0.14667	.	.	.	.	.	T	0.26195	0.0639	.	.	.	0.09310	N	1	P	0.40302	0.712	B	0.28232	0.087	T	0.10706	-1.0618	7	.	.	.	.	3.0749	0.06243	0.1949:0.4439:0.0:0.3612	.	1170	E9PAV3	.	R	1170	ENSP00000403817:G1170R	.	G	-	1	0	NACA	55398073	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.033000	0.12246	0.171000	0.19730	0.064000	0.15345	GGG		0.622	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		38	65	0	0	0	1	0	38	65				
MCM3	4172	broad.mit.edu	37	6	52137116	52137116	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52137116T>C	ENST00000229854.7	-	12	1886	c.1810A>G	c.(1810-1812)Agc>Ggc	p.S604G	MCM3_ENST00000596288.1_Missense_Mutation_p.S649G|MCM3_ENST00000419835.2_Missense_Mutation_p.S558G			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	604					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTGTCTGAGCTCATGCTATCC	0.567																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1945-1947)Agc>Ggc		minichromosome maintenance complex component 3							126.0	108.0	114.0					6																	52137116		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52137116T>C	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1810A>G	6.37:g.52137116T>C	ENSP00000229854:p.Ser604Gly					MCM3_ENST00000229854.7_Missense_Mutation_p.S604G|MCM3_ENST00000419835.2_Missense_Mutation_p.S558G	p.S649G	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			12	1972	-	Lung NSC(77;0.0931)		604					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1945A>G		.	.	.	.	.	.	.	.	.	.	T	15.16	2.750301	0.49257	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.31769	4.31;2.5;1.48	5.33	5.33	0.75918	.	0.442804	0.18871	N	0.128824	T	0.07908	0.0198	N	0.05487	-0.04	0.41621	D	0.988968	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.16041	-1.0416	10	0.19590	T	0.45	-15.2836	15.452	0.75279	0.0:0.0:0.0:1.0	.	558;604	B4DUQ9;P25205	.;MCM3_HUMAN	G	604;101;558;99	ENSP00000229854:S604G;ENSP00000388647:S558G;ENSP00000407651:S99G	ENSP00000229854:S604G	S	-	1	0	MCM3	52245075	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.618000	0.54188	2.234000	0.73211	0.533000	0.62120	AGC		0.567	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			10	64	0	0	0	1	0	10	64				
PDPR	55066	broad.mit.edu	37	16	70187441	70187441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70187441G>T	ENST00000288050.4	+	18	3157	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Nonsense_Mutation_p.E79*|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Nonsense_Mutation_p.E634*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.E734*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.E92*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	734					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CACGCCCCTGGAATGTGGACG	0.488																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2200-2202)Gaa>Taa		pyruvate dehydrogenase phosphatase regulatory subunit							65.0	69.0	67.0					16																	70187441		1921	4137	6058	SO:0001587	stop_gained	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187441G>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2200G>T	16.37:g.70187441G>T	ENSP00000288050:p.Glu734*					PDPR_ENST00000542659.1_Nonsense_Mutation_p.E79*|PDPR_ENST00000398122.3_Nonsense_Mutation_p.E634*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.E92*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.E734*|PDPR_ENST00000562100.1_Intron	p.E734*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3157	+			734					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Nonsense_Mutation	SNP	ENST00000288050.4	37	c.2200G>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399466	0.83120	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	.	.	.	X	734;634;79	.	ENSP00000288050:E734X	E	+	1	0	PDPR	68744942	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.793000	0.99091	2.873000	0.98535	0.561000	0.74099	GAA		0.488	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		6	18	1	0	0.00116845	1	0.00124821	6	18				
KIAA0895	23366	broad.mit.edu	37	7	36397121	36397121	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36397121T>G	ENST00000297063.6	-	3	307	c.257A>C	c.(256-258)aAa>aCa	p.K86T	KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000317020.6_Missense_Mutation_p.K35T|KIAA0895_ENST00000338533.5_Missense_Mutation_p.K73T|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.K73T|KIAA0895_ENST00000440378.1_Missense_Mutation_p.K35T	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	86										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGCTTCTTTTGTTGTCAAT	0.368																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(103-105)aAa>aCa		KIAA0895							109.0	95.0	99.0					7																	36397121		1860	4095	5955	SO:0001583	missense	23366							g.chr7:36397121T>G	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.257A>C	7.37:g.36397121T>G	ENSP00000297063:p.Lys86Thr					KIAA0895_ENST00000440378.1_Missense_Mutation_p.K35T|KIAA0895_ENST00000338533.5_Missense_Mutation_p.K73T|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000297063.6_Missense_Mutation_p.K86T|KIAA0895_ENST00000415803.2_Missense_Mutation_p.K73T|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000480192.1_Intron	p.K35T	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			2	404	-			86			Arg-rich.		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.104A>C	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389063	0.25118	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000415803	.	.	.	5.78	2.14	0.27477	.	0.462998	0.26268	N	0.025360	T	0.34542	0.0901	L	0.43152	1.355	0.09310	N	1	B;B;P;B;B;B	0.37663	0.372;0.102;0.604;0.19;0.152;0.066	B;B;B;B;B;B	0.38327	0.15;0.029;0.271;0.067;0.08;0.031	T	0.18272	-1.0342	9	0.72032	D	0.01	-2.9546	9.6812	0.40072	0.0:0.195:0.0:0.805	.	35;35;73;86;73;35	B4DGN6;B7ZLT4;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;K0895_HUMAN;.;.	T	86;73;35;35;73	.	ENSP00000297063:K86T	K	-	2	0	KIAA0895	36363646	1.000000	0.71417	0.024000	0.17045	0.784000	0.44337	3.590000	0.53979	0.130000	0.18549	-0.360000	0.07572	AAA		0.368	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		5	60	0	0	0	1	0	5	60				
RSPO1	284654	broad.mit.edu	37	1	38082240	38082240	+	Missense_Mutation	SNP	C	C	T	rs536438426		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38082240C>T	ENST00000401069.1	-	4	914	c.202G>A	c.(202-204)Gac>Aac	p.D68N	RSPO1_ENST00000356545.2_Missense_Mutation_p.D68N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D68N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D68N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D41N	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	68					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCGGATGTCGTTCCTCTCC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18169	0.0		0.0	False		,,,				2504	0.0				GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(202-204)Gac>Aac		R-spondin 1							77.0	81.0	80.0					1																	38082240		2081	4216	6297	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082240C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.202G>A	1.37:g.38082240C>T	ENSP00000383847:p.Asp68Asn					RSPO1_ENST00000373059.1_Missense_Mutation_p.D41N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D68N	p.D68N	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			5	989	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	68					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.202G>A	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308956	0.95629	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.79	5.79	0.91817	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88040	0.6330	L	0.48986	1.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.998;0.996	D	0.87646	0.2525	10	0.59425	D	0.04	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	68;41;68	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	N	41;68;68;68;68;68	ENSP00000362150:D41N;ENSP00000383848:D68N;ENSP00000348944:D68N;ENSP00000383849:D68N;ENSP00000383847:D68N;ENSP00000383846:D68N	ENSP00000348944:D68N	D	-	1	0	RSPO1	37854827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.858000	0.69532	2.753000	0.94483	0.555000	0.69702	GAC		0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		33	48	0	0	0	1	0	33	48				
HDAC10	83933	broad.mit.edu	37	22	50688893	50688893	+	Missense_Mutation	SNP	G	G	A	rs186782930	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50688893G>A	ENST00000216271.5	-	3	606	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HDAC10_ENST00000448072.1_Missense_Mutation_p.A85V|HDAC10_ENST00000498366.1_Intron|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A85V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	85	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGACAGCGCCTGCAGCTC	0.617													G|||	3	0.000599042	0.0	0.0029	5008	,	,		18777	0.001		0.0	False		,,,				2504	0.0					ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(253-255)gCg>gTg		histone deacetylase 10							124.0	97.0	106.0					22																	50688893		2202	4300	6502	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50688893G>A	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.254C>T	22.37:g.50688893G>A	ENSP00000216271:p.Ala85Val					HDAC10_ENST00000498366.1_Intron|HDAC10_ENST00000349505.4_Missense_Mutation_p.A85V|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A85V	p.A85V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	606	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	85			Histone deacetylase.		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.254C>T	CCDS14088.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.43	1.348915	0.24426	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.70631	-0.5;-0.5;-0.5	4.95	2.71	0.32032	Histone deacetylase domain (2);	0.648453	0.14933	N	0.289959	T	0.54415	0.1857	N	0.25647	0.755	0.09310	N	0.999995	B;B;B	0.12630	0.001;0.002;0.006	B;B;B	0.12837	0.005;0.004;0.008	T	0.39292	-0.9621	10	0.25751	T	0.34	-5.9511	9.6607	0.39954	0.0:0.1235:0.5003:0.3762	.	85;85;85	Q969S8-2;C9J8B8;Q969S8	.;.;HDA10_HUMAN	V	85	ENSP00000216271:A85V;ENSP00000397542:A85V;ENSP00000343540:A85V	ENSP00000216271:A85V	A	-	2	0	HDAC10	49031020	0.000000	0.05858	0.046000	0.18839	0.122000	0.20287	0.210000	0.17455	1.049000	0.40321	0.297000	0.19635	GCG		0.617	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		22	37	0	0	0	1	0	22	37				
HUWE1	10075	broad.mit.edu	37	X	53561480	53561480	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53561480A>C	ENST00000342160.3	-	81	13285	c.12828T>G	c.(12826-12828)atT>atG	p.I4276M	HUWE1_ENST00000262854.6_Missense_Mutation_p.I4276M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4276	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTCACCTGAATAGAGTTGG	0.463																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12826-12828)atT>atG		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							214.0	153.0	173.0					X																	53561480		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53561480A>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12828T>G	X.37:g.53561480A>C	ENSP00000340648:p.Ile4276Met					HUWE1_ENST00000262854.6_Missense_Mutation_p.I4276M	p.I4276M			Q7Z6Z7	HUWE1_HUMAN			81	13285	-			4276			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12828T>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.953|7.953	0.745386|0.745386	0.15710|0.15710	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.57273|.	0.41;0.41|.	5.36|5.36	2.7|2.7	0.31948|0.31948	HECT (4);|.	0.139235|.	0.50627|.	D|.	0.000116|.	T|T	0.43166|0.43166	0.1235|0.1235	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	P;P|.	0.49307|.	0.922;0.905|.	P;P|.	0.54026|.	0.74;0.695|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.33940|.	T|.	0.23|.	.|.	2.5537|2.5537	0.04755|0.04755	0.4284:0.0:0.3521:0.2194|0.4284:0.0:0.3521:0.2194	.|.	4276;4260|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	M|A	4276|3310;1099	ENSP00000340648:I4276M;ENSP00000262854:I4276M|.	ENSP00000262854:I4276M|.	I|S	-|-	3|1	3|0	HUWE1|HUWE1	53578205|53578205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	1.816000|1.816000	0.38992|0.38992	0.783000|0.783000	0.33636|0.33636	0.486000|0.486000	0.48141|0.48141	ATT|TCA		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		16	50	0	0	0	1	0	16	50				
CPEB4	80315	broad.mit.edu	37	5	173378897	173378897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173378897G>A	ENST00000265085.5	+	8	3190	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	CPEB4_ENST00000522336.1_Missense_Mutation_p.R189Q|CPEB4_ENST00000520867.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000517880.1_Missense_Mutation_p.R172Q|CPEB4_ENST00000334035.5_Missense_Mutation_p.R562Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	579					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGACCCACGAAAAACTATA	0.428																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1735-1737)cGa>cAa		cytoplasmic polyadenylation element binding protein 4							168.0	143.0	152.0					5																	173378897		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173378897G>A	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1736G>A	5.37:g.173378897G>A	ENSP00000265085:p.Arg579Gln					CPEB4_ENST00000520867.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000334035.5_Missense_Mutation_p.R562Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.R189Q|CPEB4_ENST00000517880.1_Missense_Mutation_p.R172Q	p.R579Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		8	3190	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	579					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1736G>A	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464534	0.96257	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.55	4.65	0.58169	Nucleotide-binding, alpha-beta plait (1);	0.104529	0.64402	D	0.000004	T	0.43809	0.1264	L	0.58428	1.81	0.54753	D	0.99998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.986;0.983;0.986;0.991;0.98	T	0.42481	-0.9449	10	0.66056	D	0.02	-10.1409	16.5003	0.84255	0.0:0.1311:0.8689:0.0	.	554;562;554;189;579	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	Q	579;554;562;554;189;172	ENSP00000265085:R579Q;ENSP00000429092:R554Q;ENSP00000334533:R562Q;ENSP00000429048:R554Q;ENSP00000430345:R189Q;ENSP00000427990:R172Q	ENSP00000265085:R579Q	R	+	2	0	CPEB4	173311503	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.813000	0.99286	1.419000	0.47118	0.650000	0.86243	CGA		0.428	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		11	25	0	0	0	1	0	11	25				
SPATS2L	26010	broad.mit.edu	37	2	201342573	201342573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201342573C>T	ENST00000358677.5	+	13	1743	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	SPATS2L_ENST00000360760.5_Missense_Mutation_p.P430L|SPATS2L_ENST00000409755.3_Missense_Mutation_p.P529L|SPATS2L_ENST00000451764.2_Missense_Mutation_p.P499L|SPATS2L_ENST00000409988.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409385.1_Missense_Mutation_p.P439L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.P507L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.P499L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	499						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATGAAGACCCCCGAGGCCCCG	0.617																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(1495-1497)cCc>cTc		spermatogenesis associated, serine-rich 2-like							17.0	19.0	19.0					2																	201342573		1886	4106	5992	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201342573C>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1496C>T	2.37:g.201342573C>T	ENSP00000351503:p.Pro499Leu					SPATS2L_ENST00000360760.5_Missense_Mutation_p.P430L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.P507L|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000358677.4_Missense_Mutation_p.P499L|SPATS2L_ENST00000451764.2_Missense_Mutation_p.P499L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.P499L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.P439L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000409755.3_Missense_Mutation_p.P529L	p.P499L	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			13	2019	+			499					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.1496C>T	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131806	0.56828	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.65	5.65	0.86999	.	0.205306	0.35040	N	0.003495	T	0.35422	0.0931	N	0.14661	0.345	0.50313	D	0.999863	B;P;B	0.35272	0.181;0.493;0.181	B;B;B	0.30495	0.054;0.116;0.054	T	0.14254	-1.0479	9	0.19590	T	0.45	-8.9171	18.0832	0.89449	0.0:1.0:0.0:0.0	.	529;430;499	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	L	499;499;499;439;499;430;499;529;507	.	ENSP00000351503:P499L	P	+	2	0	SPATS2L	201050818	0.933000	0.31639	0.958000	0.39756	0.828000	0.46876	2.322000	0.43814	2.941000	0.99782	0.655000	0.94253	CCC		0.617	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		3	1	0	0	0	1	0	3	1				
IPO9	55705	broad.mit.edu	37	1	201838754	201838754	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201838754A>G	ENST00000361565.4	+	17	2110	c.2041A>G	c.(2041-2043)Aca>Gca	p.T681A		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	681					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGTACGAAATACAAAGCCTCC	0.483																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2041-2043)Aca>Gca		importin 9							157.0	133.0	141.0					1																	201838754		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201838754A>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2041A>G	1.37:g.201838754A>G	ENSP00000354742:p.Thr681Ala						p.T681A	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			17	2110	+			681					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2041A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659372	0.67586	.	.	ENSG00000198700	ENST00000361565	T	0.66460	-0.21	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.32530	0.975	0.80722	D	1	B	0.20671	0.047	B	0.18871	0.023	T	0.49781	-0.8903	10	0.08837	T	0.75	-9.1159	14.0955	0.65019	1.0:0.0:0.0:0.0	.	681	Q96P70	IPO9_HUMAN	A	681	ENSP00000354742:T681A	ENSP00000354742:T681A	T	+	1	0	IPO9	200105377	1.000000	0.71417	0.656000	0.29637	0.998000	0.95712	8.856000	0.92245	2.212000	0.71576	0.528000	0.53228	ACA		0.483	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		38	39	0	0	0	1	0	38	39				
CSMD3	114788	broad.mit.edu	37	8	113347559	113347559	+	Splice_Site	SNP	G	G	A	rs61754528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113347559G>A	ENST00000297405.5	-	45	7408	c.7164C>T	c.(7162-7164)caC>caT	p.H2388H	CSMD3_ENST00000455883.2_Splice_Site_p.H2284H|CSMD3_ENST00000352409.3_Splice_Site_p.H2318H|CSMD3_ENST00000343508.3_Splice_Site_p.H2348H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2388	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATACCAACCGTGATAACTGA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e45+1		CUB and Sushi multiple domains 3		G	,,	0,4406		0,0,2203	84.0	81.0	82.0		6852,7164,7044	-9.4	0.3	8	dbSNP_129	82	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	2284/3539,2388/3708,2348/3668	113347559	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113347559G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7165+1C>T	8.37:g.113347559G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.H2318_splice|CSMD3_ENST00000343508.3_Splice_Site_p.H2348_splice|CSMD3_ENST00000455883.2_Splice_Site_p.H2284_splice	p.H2388_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			45	7408	-			2388			CUB 13.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.7165_splice	CCDS6315.1																																																																																				0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Silent	4	34	0	0	0	1	0	4	34				
C1S	716	broad.mit.edu	37	12	7177275	7177275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177275G>T	ENST00000406697.1	+	15	2015	c.1387G>T	c.(1387-1389)Gcg>Tcg	p.A463S	C1S_ENST00000328916.3_Missense_Mutation_p.A463S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.A463S|C1S_ENST00000402681.3_Missense_Mutation_p.A296S			P09871	C1S_HUMAN	complement component 1, s subcomponent	463	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGTGGAGCGCTCATTAA	0.493																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1387-1389)Gcg>Tcg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						54.0	54.0	54.0					12																	7177275		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177275G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1387G>T	12.37:g.7177275G>T	ENSP00000385035:p.Ala463Ser					C1S_ENST00000402681.3_Missense_Mutation_p.A296S|C1S_ENST00000328916.3_Missense_Mutation_p.A463S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.A463S	p.A463S			P09871	C1S_HUMAN			15	2015	+			463			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1387G>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110795	0.37242	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.03	5.03	0.67393	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42420	D	0.000716	T	0.69895	0.3162	N	0.04335	-0.225	0.29576	N	0.849513	P	0.38565	0.637	B	0.37144	0.242	T	0.65249	-0.6214	10	0.06625	T	0.88	.	13.5189	0.61555	0.0:0.0:0.8441:0.1558	.	463	P09871	C1S_HUMAN	S	463;463;463;457;296	ENSP00000385035:A463S;ENSP00000328173:A463S;ENSP00000354057:A463S;ENSP00000384171:A296S	ENSP00000328173:A463S	A	+	1	0	C1S	7047536	0.285000	0.24296	1.000000	0.80357	0.028000	0.11728	2.259000	0.43259	2.607000	0.88179	0.462000	0.41574	GCG		0.493	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		12	32	1	0	2.80697e-09	1	3.39963e-09	12	32				
ABCA9	10350	broad.mit.edu	37	17	67039765	67039765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67039765G>A	ENST00000340001.4	-	6	876	c.665C>T	c.(664-666)gCa>gTa	p.A222V	ABCA9_ENST00000370732.2_Missense_Mutation_p.A222V|ABCA9_ENST00000453985.2_Missense_Mutation_p.A222V|ABCA9_ENST00000495634.1_Missense_Mutation_p.A222V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	222					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAATCAGTTGCAACTCCTCC	0.328																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(664-666)gCa>gTa		ATP-binding cassette, sub-family A (ABC1), member 9							88.0	87.0	87.0					17																	67039765		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67039765G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.665C>T	17.37:g.67039765G>A	ENSP00000342216:p.Ala222Val					ABCA9_ENST00000453985.2_Missense_Mutation_p.A222V|ABCA9_ENST00000370732.2_Missense_Mutation_p.A222V|ABCA9_ENST00000495634.1_Missense_Mutation_p.A222V	p.A222V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			6	876	-	Breast(10;1.47e-12)		222					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.665C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	8.595	0.885467	0.17540	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86562	-2.14;-2.14	4.73	-2.87	0.05700	.	1.905410	0.02825	N	0.125970	T	0.76681	0.4021	L	0.31664	0.95	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.59289	-0.7482	10	0.15952	T	0.53	.	4.5532	0.12124	0.3944:0.2993:0.3063:0.0	.	222;222	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	222;205;222;217	ENSP00000342216:A222V;ENSP00000359767:A222V	ENSP00000342216:A222V	A	-	2	0	ABCA9	64551360	0.000000	0.05858	0.002000	0.10522	0.990000	0.78478	-1.206000	0.03011	-0.287000	0.09064	0.603000	0.83216	GCA		0.328	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		25	42	0	0	0	1	0	25	42				
PMS2CL	441194	broad.mit.edu	37	7	6776853	6776853	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6776853G>T	ENST00000486256.1	+	0	980					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		TCACACAACAGAGAACAAGCC	0.483																																						ENST00000486256.1																			0																																																			0							g.chr7:6776853G>T	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6776853G>T								NR_002217.1						0	980	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.483	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		4	44	1	0	0.184627	1	0.186383	4	44				
RAI1	10743	broad.mit.edu	37	17	17696880	17696880	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696880T>C	ENST00000353383.1	+	3	1087	c.618T>C	c.(616-618)ggT>ggC	p.G206G	RAI1_ENST00000261641.6_Silent_p.G206G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	206	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCCCCCAGGGTACCCACTTTC	0.632																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(616-618)ggT>ggC		retinoic acid induced 1							64.0	61.0	62.0					17																	17696880		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696880T>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.618T>C	17.37:g.17696880T>C						RAI1_ENST00000261641.6_Silent_p.G206G	p.G206G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1087	+			206			Gln-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.618T>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.778011	0.00634	.	.	ENSG00000108557	ENST00000315321	.	.	.	4.49	-1.59	0.08453	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6663	0.17697	0.0:0.4758:0.2391:0.2851	.	.	.	.	.	-1	.	.	.	+	.	.	RAI1	17637605	0.000000	0.05858	0.036000	0.18154	0.098000	0.18820	-0.993000	0.03720	-0.551000	0.06175	-0.589000	0.04120	.		0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		25	47	0	0	0	1	0	25	47				
CHRNB2	1141	broad.mit.edu	37	1	154548311	154548311	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154548311T>C	ENST00000368476.3	+	6	1676	c.1412T>C	c.(1411-1413)gTc>gCc	p.V471A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	471					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TTTGTCTGTGTCTTTGGCACC	0.577																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(1411-1413)gTc>gCc		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						339.0	245.0	277.0					1																	154548311		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154548311T>C	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1412T>C	1.37:g.154548311T>C	ENSP00000357461:p.Val471Ala						p.V471A	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1676	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		471					Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.1412T>C	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092142	0.55968	.	.	ENSG00000160716	ENST00000368476	D	0.86562	-2.14	5.18	4.06	0.47325	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.074860	0.52532	D	0.000069	T	0.81688	0.4875	M	0.73598	2.24	0.54753	D	0.999987	B	0.27732	0.187	B	0.34180	0.177	T	0.81558	-0.0878	10	0.59425	D	0.04	.	10.708	0.45966	0.0:0.0753:0.0:0.9247	.	471	P17787	ACHB2_HUMAN	A	471	ENSP00000357461:V471A	ENSP00000357461:V471A	V	+	2	0	CHRNB2	152814935	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.868000	0.87116	1.003000	0.39130	0.460000	0.39030	GTC		0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		3	104	0	0	0	1	0	3	104				
CEACAM16	388551	broad.mit.edu	37	19	45209106	45209106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45209106C>A	ENST00000405314.2	+	4	1005	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.S303Y			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	303	Ig-like C2-type 2.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ACCCTGCTATCTGGATCTGCC	0.587																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(907-909)tCt>tAt		carcinoembryonic antigen-related cell adhesion molecule 16							147.0	157.0	154.0					19																	45209106		2108	4234	6342	SO:0001583	missense	388551							g.chr19:45209106C>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.908C>A	19.37:g.45209106C>A	ENSP00000385576:p.Ser303Tyr					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.S303Y	p.S303Y	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			5	1123	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	303					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.908C>A	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777904	0.49786	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.48836	0.8	5.24	5.24	0.73138	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.310486	0.17787	U	0.162021	T	0.53706	0.1813	L	0.33293	1	0.32654	N	0.519034	D	0.67145	0.996	P	0.59115	0.852	T	0.62544	-0.6832	10	0.52906	T	0.07	-17.3931	14.4021	0.67053	0.0:1.0:0.0:0.0	.	362	Q2WEN9	CEA16_HUMAN	Y	368;303	ENSP00000385576:S303Y	ENSP00000379974:S368Y	S	+	2	0	CEACAM16	49900946	0.950000	0.32346	0.569000	0.28460	0.356000	0.29392	3.728000	0.54991	2.458000	0.83093	0.650000	0.86243	TCT		0.587	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		28	60	1	0	4.74835e-14	1	6.04786e-14	28	60				
SOX7	83595	broad.mit.edu	37	8	10583430	10583430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583430G>A	ENST00000304501.1	-	2	1063	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SOX7_ENST00000554914.1_Missense_Mutation_p.R381C|SOX7_ENST00000553390.1_Missense_Mutation_p.R381C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	329	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AATTCATTGCGATCCATGTCC	0.627																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(985-987)Cgc>Tgc		SRY (sex determining region Y)-box 7							94.0	84.0	88.0					8																	10583430		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583430G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.985C>T	8.37:g.10583430G>A	ENSP00000301921:p.Arg329Cys					SOX7_ENST00000553390.1_Missense_Mutation_p.R381C|SOX7_ENST00000554914.1_Missense_Mutation_p.R381C	p.R329C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	1063	-			329			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.985C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636306	0.67130	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.83075	-1.68;-1.68;-1.68	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.90930	0.7149	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91907	0.5536	10	0.87932	D	0	.	11.8648	0.52486	0.0:0.0:0.8255:0.1745	.	381;329	B4DKV0;Q9BT81	.;SOX7_HUMAN	C	329;381;381	ENSP00000301921:R329C;ENSP00000452017:R381C;ENSP00000451145:R381C	ENSP00000346908:R381C	R	-	1	0	SOX7;CTD-2135J3.4	10620840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.169000	0.64984	2.385000	0.81259	0.561000	0.74099	CGC		0.627	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			15	24	0	0	0	1	0	15	24				
ADCK4	79934	broad.mit.edu	37	19	41206296	41206296	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41206296C>T	ENST00000324464.3	-	11	1255	c.954G>A	c.(952-954)acG>acA	p.T318T	ADCK4_ENST00000243583.6_Silent_p.T277T|ADCK4_ENST00000450541.1_Silent_p.T277T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	318	Protein kinase.		T -> M (in dbSNP:rs55899516). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCACCCGTGTCGTGCACAGCT	0.642																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(952-954)acG>acA		aarF domain containing kinase 4							40.0	38.0	39.0					19																	41206296		2203	4300	6503	SO:0001819	synonymous_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41206296C>T	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.954G>A	19.37:g.41206296C>T						ADCK4_ENST00000450541.1_Silent_p.T277T|ADCK4_ENST00000243583.6_Silent_p.T277T	p.T318T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		11	1255	-			318		T -> M (in dbSNP:rs55899516).	Protein kinase.		Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	c.954G>A	CCDS12562.1																																																																																				0.642	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		15	13	0	0	0	1	0	15	13				
MUC6	4588	broad.mit.edu	37	11	1017652	1017652	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1017652T>C	ENST00000421673.2	-	31	5199	c.5149A>G	c.(5149-5151)Aac>Gac	p.N1717D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1717	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTGGGGTTGGGGGTGATG	0.517																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5149-5151)Aac>Gac		mucin 6, oligomeric mucus/gel-forming							571.0	566.0	568.0					11																	1017652		2194	4279	6473	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017652T>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5149A>G	11.37:g.1017652T>C	ENSP00000406861:p.Asn1717Asp						p.N1717D	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5199	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1717			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5149A>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	2.663	-0.279263	0.05642	.	.	ENSG00000184956	ENST00000421673	T	0.18016	2.24	1.58	-3.15	0.05233	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.33574	-0.9863	9	0.22706	T	0.39	.	0.543	0.00649	0.4493:0.173:0.169:0.2087	.	1717	Q6W4X9	MUC6_HUMAN	D	1717	ENSP00000406861:N1717D	ENSP00000406861:N1717D	N	-	1	0	MUC6	1007652	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.680000	0.05197	-1.640000	0.01525	0.225000	0.17782	AAC		0.517	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		16	817	0	0	0	1	0	16	817				
ATP5A1	498	broad.mit.edu	37	18	43667331	43667331	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43667331G>A	ENST00000398752.6	-	7	1048	c.927C>T	c.(925-927)atC>atT	p.I309I	ATP5A1_ENST00000282050.2_Silent_p.I309I|ATP5A1_ENST00000593152.2_Silent_p.I259I|ATP5A1_ENST00000590665.1_Silent_p.I287I	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	309					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CGTCATAGATGATCAAAGCAT	0.398																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(775-777)atC>atT		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							74.0	76.0	75.0					18																	43667331		2203	4300	6503	SO:0001819	synonymous_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43667331G>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.927C>T	18.37:g.43667331G>A						ATP5A1_ENST00000282050.2_Silent_p.I309I|ATP5A1_ENST00000398752.6_Silent_p.I309I|ATP5A1_ENST00000590665.1_Silent_p.I287I	p.I259I	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			7	1316	-			309					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Silent	SNP	ENST00000398752.6	37	c.777C>T	CCDS11927.1																																																																																				0.398	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		43	55	0	0	0	1	0	43	55				
OR2W3	343171	broad.mit.edu	37	1	248059271	248059271	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059271A>T	ENST00000360358.3	+	1	383	c.383A>T	c.(382-384)aAg>aTg	p.K128M	OR2W3_ENST00000537741.1_Missense_Mutation_p.K128M	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTATCTGCAAGCCCCTGCAC	0.607																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(382-384)aAg>aTg		olfactory receptor, family 2, subfamily W, member 3							104.0	80.0	88.0					1																	248059271		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059271A>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.383A>T	1.37:g.248059271A>T	ENSP00000353516:p.Lys128Met					OR2W3_ENST00000360358.3_Missense_Mutation_p.K128M	p.K128M			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	640	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		128					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.383A>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735069	0.30774	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00922	5.54;5.54	5.28	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.280853	0.30890	N	0.008667	T	0.04770	0.0129	M	0.90759	3.145	0.33727	D	0.61774	D	0.76494	0.999	D	0.67231	0.95	T	0.07888	-1.0749	10	0.87932	D	0	.	5.2586	0.15561	0.6026:0.1392:0.2583:0.0	.	128	Q7Z3T1	OR2W3_HUMAN	M	128	ENSP00000445853:K128M;ENSP00000353516:K128M	ENSP00000353516:K128M	K	+	2	0	OR2W3	246125894	0.000000	0.05858	0.952000	0.39060	0.022000	0.10575	1.119000	0.31258	0.102000	0.17638	-0.520000	0.04383	AAG		0.607	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		23	36	0	0	0	1	0	23	36				
MOCOS	55034	broad.mit.edu	37	18	33800180	33800180	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33800180G>A	ENST00000261326.5	+	9	1981	c.1960G>A	c.(1960-1962)Ggg>Agg	p.G654R		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAAGCCAAAGGTGGGAAAAC	0.478																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e9+1		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						68.0	61.0	63.0					18																	33800180		2203	4300	6503	SO:0001630	splice_region_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33800180G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1960+1G>A	18.37:g.33800180G>A							p.G654_splice	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			9	1981	+			654						Splice_Site	SNP	ENST00000261326.5	37	c.1960_splice	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682238	0.68042	.	.	ENSG00000075643	ENST00000261326	T	0.39997	1.05	5.92	5.92	0.95590	MOSC, N-terminal beta barrel (1);Pyruvate kinase-like, insert domain (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.84433	2.695	0.41902	D	0.99042	D	0.89917	1.0	D	0.79784	0.993	T	0.73519	-0.3957	10	0.72032	D	0.01	-22.5999	17.8152	0.88630	0.0:0.0:1.0:0.0	.	654	Q96EN8	MOCOS_HUMAN	R	654	ENSP00000261326:G654R	ENSP00000261326:G654R	G	+	1	0	MOCOS	32054178	1.000000	0.71417	0.998000	0.56505	0.520000	0.34377	5.651000	0.67951	2.804000	0.96469	0.655000	0.94253	GGG		0.478	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		Missense_Mutation	15	37	0	0	0	1	0	15	37				
TUBA3C	7278	broad.mit.edu	37	13	19751365	19751365	+	Missense_Mutation	SNP	G	G	A	rs139914455	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19751365G>A	ENST00000400113.3	-	4	862	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'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)		CTGGAATTCCGTCAAGTCCAC	0.617																																						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.(757-759)aCg>aTg		tubulin, alpha 3c		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	150.0	132.0	138.0		758	1.2	1.0	13	dbSNP_134	138	0,8600		0,0,4300	no	missense	TUBA3C	NM_006001.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	253/451	19751365	1,13005	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.chr13:19751365G>A	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.758C>T	13.37:g.19751365G>A	ENSP00000382982:p.Thr253Met						p.T253M	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)	4	862	-		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)	253					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.758C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	3.762	-0.049436	0.07407	2.27E-4	0.0	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84070	-1.8	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000189	D	0.84552	0.5497	.	.	.	0.42989	D	0.994486	.	.	.	.	.	.	D	0.84363	0.0539	7	0.87932	D	0	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	M	253	ENSP00000382982:T253M	ENSP00000354037:T253M	T	-	2	0	TUBA3C	18649365	1.000000	0.71417	0.954000	0.39281	0.213000	0.24496	4.987000	0.63857	0.972000	0.38314	0.175000	0.17021	ACG		0.617	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		9	76	0	0	0	1	0	9	76				
GDPD2	54857	broad.mit.edu	37	X	69652787	69652787	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69652787A>G	ENST00000374382.3	+	15	1815	c.1564A>G	c.(1564-1566)Act>Gct	p.T522A	GDPD2_ENST00000538649.1_Missense_Mutation_p.T443A|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.T443A|GDPD2_ENST00000453994.2_Missense_Mutation_p.T573A	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	522					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGAGGGAAAACTGGTAAGAA	0.527																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1717-1719)Act>Gct		glycerophosphodiester phosphodiesterase domain containing 2							107.0	84.0	92.0					X																	69652787		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652787A>G	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1564A>G	X.37:g.69652787A>G	ENSP00000363503:p.Thr522Ala					GDPD2_ENST00000538649.1_Missense_Mutation_p.T443A|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Missense_Mutation_p.T522A|GDPD2_ENST00000536730.1_Missense_Mutation_p.T443A	p.T573A	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			16	2078	+	Renal(35;0.156)		522					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1717A>G	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	A	6.675	0.493093	0.12702	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.87	2.38	0.29361	.	0.281975	0.29438	N	0.012159	T	0.26085	0.0636	L	0.35723	1.085	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.11324	-1.0592	9	.	.	.	-2.3531	4.011	0.09623	0.6503:0.2326:0.1171:0.0	.	573;522	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	A	573;443;443;522	ENSP00000414019:T573A;ENSP00000445982:T443A;ENSP00000444601:T443A;ENSP00000363503:T522A	.	T	+	1	0	GDPD2	69569512	0.007000	0.16637	0.623000	0.29173	0.629000	0.37895	0.778000	0.26732	0.675000	0.31264	0.441000	0.28932	ACT		0.527	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		10	22	0	0	0	1	0	10	22				
ICA1	3382	broad.mit.edu	37	7	8167510	8167510	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167510C>T	ENST00000402384.3	-	13	1589	c.1323G>A	c.(1321-1323)tcG>tcA	p.S441S	ICA1_ENST00000401396.1_Silent_p.S429S|ICA1_ENST00000265577.7_Silent_p.S440S|ICA1_ENST00000422063.2_Silent_p.S470S|ICA1_ENST00000396675.3_Silent_p.S441S|ICA1_ENST00000406470.2_Silent_p.S441S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	441					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TACCTTGTAGCGAGGCCTGTA	0.438																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(1321-1323)tcG>tcA		islet cell autoantigen 1, 69kDa							127.0	143.0	137.0					7																	8167510		2195	4299	6494	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8167510C>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1323G>A	7.37:g.8167510C>T						ICA1_ENST00000265577.7_Silent_p.S440S|ICA1_ENST00000401396.1_Silent_p.S429S|ICA1_ENST00000406470.2_Silent_p.S441S|ICA1_ENST00000422063.2_Silent_p.S470S|ICA1_ENST00000396675.3_Silent_p.S441S	p.S441S			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	13	1589	-		Ovarian(82;0.0612)	441					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.1323G>A	CCDS34602.1																																																																																				0.438	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		39	142	0	0	0	1	0	39	142				
TLL1	7092	broad.mit.edu	37	4	166964541	166964541	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964541C>T	ENST00000061240.2	+	12	2141	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	TLL1_ENST00000507499.1_Silent_p.Y498Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	498	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTGAGAGCTACCACGTCGGGC	0.418																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1492-1494)taC>taT		tolloid-like 1							174.0	160.0	165.0					4																	166964541		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166964541C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1494C>T	4.37:g.166964541C>T						TLL1_ENST00000507499.1_Silent_p.Y498Y	p.Y498Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	12	2141	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	498			CUB 2.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.1494C>T	CCDS3811.1																																																																																				0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			56	86	0	0	0	1	0	56	86				
STK17B	9262	broad.mit.edu	37	2	197021347	197021347	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197021347T>C	ENST00000263955.4	-	3	437	c.151A>G	c.(151-153)Ata>Gta	p.I51V	RP11-347P5.1_ENST00000606818.1_RNA|STK17B_ENST00000409228.1_Missense_Mutation_p.I51V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GATTTTGATATACATTGTCTA	0.353																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(151-153)Ata>Gta		serine/threonine kinase 17b							88.0	91.0	90.0					2																	197021347		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197021347T>C	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.151A>G	2.37:g.197021347T>C	ENSP00000263955:p.Ile51Val					STK17B_ENST00000409228.1_Missense_Mutation_p.I51V	p.I51V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		3	437	-			51			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.151A>G	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	T	6.390	0.440030	0.12104	.	.	ENSG00000081320	ENST00000263955;ENST00000409228;ENST00000420683	T;T;T	0.48201	0.82;0.82;1.14	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107907	0.39985	N	0.001202	T	0.24851	0.0603	N	0.12527	0.23	0.35618	D	0.809187	B	0.02656	0.0	B	0.08055	0.003	T	0.25847	-1.0120	10	0.09590	T	0.72	.	8.5023	0.33165	0.0:0.1505:0.0:0.8495	.	51	O94768	ST17B_HUMAN	V	51	ENSP00000263955:I51V;ENSP00000386853:I51V;ENSP00000399755:I51V	ENSP00000263955:I51V	I	-	1	0	STK17B	196729592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.489000	0.35562	2.150000	0.67090	0.533000	0.62120	ATA		0.353	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			45	61	0	0	0	1	0	45	61				
NBEAL2	23218	broad.mit.edu	37	3	47050155	47050155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47050155A>G	ENST00000450053.3	+	52	8203	c.8024A>G	c.(8023-8025)aAc>aGc	p.N2675S	NBEAL2_ENST00000292309.5_Missense_Mutation_p.N2491S|NBEAL2_ENST00000383740.2_Missense_Mutation_p.N924S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2675					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTCCAACTAAACACGTAAGCC	0.572																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(8023-8025)aAc>aGc		neurobeachin-like 2							41.0	43.0	43.0					3																	47050155		1978	4166	6144	SO:0001583	missense	23218						binding	g.chr3:47050155A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.8024A>G	3.37:g.47050155A>G	ENSP00000415034:p.Asn2675Ser					NBEAL2_ENST00000383740.2_Missense_Mutation_p.N924S|NBEAL2_ENST00000292309.5_Missense_Mutation_p.N2491S	p.N2675S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	52	8203	+		Acute lymphoblastic leukemia(5;0.0534)	2675					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.8024A>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.994|9.994	1.231503|1.231503	0.22626|0.22626	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	T;T;T|.	0.16324|.	2.35;2.35;2.35|.	4.87|4.87	4.87|4.87	0.63330|0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.334731|.	0.36234|.	N|.	0.002712|.	T|T	0.38825|0.38825	0.1055|0.1055	L|L	0.29908|0.29908	0.895|0.895	0.34176|0.34176	D|D	0.670338|0.670338	B;B|.	0.22211|.	0.066;0.041|.	B;B|.	0.21708|.	0.036;0.024|.	T|T	0.50398|0.50398	-0.8833|-0.8833	10|5	0.23891|.	T|.	0.37|.	.|.	7.143|7.143	0.25566|0.25566	0.9019:0.0:0.0981:0.0|0.9019:0.0:0.0981:0.0	.|.	2491;2675|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	S|A	2491;924;2675;618|1963	ENSP00000292309:N2491S;ENSP00000373246:N924S;ENSP00000415034:N2675S|.	ENSP00000292309:N2491S|.	N|T	+|+	2|1	0|0	NBEAL2|NBEAL2	47025159|47025159	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.367000|0.367000	0.29736|0.29736	2.213000|2.213000	0.42844|0.42844	2.039000|2.039000	0.60335|0.60335	0.459000|0.459000	0.35465|0.35465	AAC|ACA		0.572	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		11	17	0	0	0	1	0	11	17				
TAAR1	134864	broad.mit.edu	37	6	132966538	132966538	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132966538G>T	ENST00000275216.1	-	1	604	c.605C>A	c.(604-606)cCt>cAt	p.P202H		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	202					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AATAGATCCAGGTATATAAAA	0.348																																						ENST00000275216.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(604-606)cCt>cAt		trace amine associated receptor 1	Amphetamine(DB00182)						71.0	75.0	73.0					6																	132966538		2203	4300	6503	SO:0001583	missense	134864					plasma membrane		g.chr6:132966538G>T	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.605C>A	6.37:g.132966538G>T	ENSP00000275216:p.Pro202His						p.P202H	NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	604	-	Breast(56;0.135)		202					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.605C>A	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203797	0.58234	.	.	ENSG00000146399	ENST00000275216	T	0.57273	0.41	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91010	0.4849	10	0.87932	D	0	-11.3842	20.017	0.97481	0.0:0.0:1.0:0.0	.	202	Q96RJ0	TAAR1_HUMAN	H	202	ENSP00000275216:P202H	ENSP00000275216:P202H	P	-	2	0	TAAR1	133008231	1.000000	0.71417	0.987000	0.45799	0.536000	0.34869	7.980000	0.88113	2.732000	0.93576	0.555000	0.69702	CCT		0.348	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		4	83	1	0	0.00024832	1	0.0002712	4	83				
ACOT11	26027	broad.mit.edu	37	1	55069583	55069583	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55069583C>A	ENST00000371316.3	+	11	1207	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	ACOT11_ENST00000343744.2_Silent_p.L375L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	375	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGGTGCCCCTCTCCGTCCCCT	0.587																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1123-1125)ctC>ctA		acyl-CoA thioesterase 11							124.0	110.0	115.0					1																	55069583		2203	4300	6503	SO:0001819	synonymous_variant	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55069583C>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1125C>A	1.37:g.55069583C>A						ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.L375L	p.L375L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			11	1207	+			375			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	ENST00000371316.3	37	c.1125C>A	CCDS592.1																																																																																				0.587	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		7	93	1	0	0.00198382	1	0.00210581	7	93				
EMX2	2018	broad.mit.edu	37	10	119303166	119303166	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119303166C>A	ENST00000553456.3	+	1	1212	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.L130M	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	130					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTACCGATATCTGGGTCATCG	0.682																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(388-390)Ctg>Atg		empty spiracles homeobox 2							90.0	77.0	81.0					10																	119303166		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303166C>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.388C>A	10.37:g.119303166C>A	ENSP00000450962:p.Leu130Met					EMX2_ENST00000442245.4_Missense_Mutation_p.L130M|EMX2OS_ENST00000551288.1_RNA	p.L130M	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1212	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	130					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.388C>A	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	C	8.692	0.907656	0.17833	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91996	-2.95	5.78	4.88	0.63580	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	L	0.50333	1.59	0.58432	D	0.999999	D;P	0.76494	0.999;0.61	D;B	0.83275	0.996;0.165	D	0.93338	0.6707	10	0.35671	T	0.21	-14.7504	14.7688	0.69659	0.0:0.9308:0.0:0.0692	.	130;130	G3V305;Q04743	.;EMX2_HUMAN	M	130	ENSP00000450962:L130M	ENSP00000358202:L130M	L	+	1	2	AC005871.1;EMX2	119293156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.055000	0.49916	1.444000	0.47605	0.551000	0.68910	CTG		0.682	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		17	31	1	0	0.0496948	1	0.050769	17	31				
TEX10	54881	broad.mit.edu	37	9	103109555	103109555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109555G>A	ENST00000374902.4	-	3	490	c.314C>T	c.(313-315)gCt>gTt	p.A105V	TEX10_ENST00000535814.1_Missense_Mutation_p.A108V|TEX10_ENST00000537512.1_Missense_Mutation_p.A40V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	105						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAAACACAGCAGTCACTTC	0.368																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(313-315)gCt>gTt		testis expressed 10							146.0	154.0	151.0					9																	103109555		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109555G>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.314C>T	9.37:g.103109555G>A	ENSP00000364037:p.Ala105Val					TEX10_ENST00000537512.1_Missense_Mutation_p.A40V|TEX10_ENST00000535814.1_Missense_Mutation_p.A108V	p.A105V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	490	-		Acute lymphoblastic leukemia(62;0.0527)	105					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.314C>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461114	0.84317	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.66099	-0.19;-0.19;-0.19	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.83275	0.963;0.996;0.887	T	0.76870	-0.2799	10	0.37606	T	0.19	-9.4531	19.4714	0.94965	0.0:0.0:1.0:0.0	.	40;108;105	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	V	108;105;40	ENSP00000444555:A108V;ENSP00000364037:A105V;ENSP00000438120:A40V	ENSP00000364037:A105V	A	-	2	0	TEX10	102149376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.588000	0.87417	0.591000	0.81541	GCT		0.368	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		19	191	0	0	0	1	0	19	191				
ERMARD	55780	broad.mit.edu	37	6	170159127	170159127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170159127C>T	ENST00000366773.3	+	6	604	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	ERMARD_ENST00000418781.3_Missense_Mutation_p.H191Y|ERMARD_ENST00000366772.2_Missense_Mutation_p.H191Y|ERMARD_ENST00000392095.4_Missense_Mutation_p.H65Y|ERMARD_ENST00000588451.1_Missense_Mutation_p.H65Y	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	191					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CGTCTTATGGCATGGGTTTGC	0.373																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(193-195)Cat>Tat									209.0	186.0	194.0					6																	170159127		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170159127C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.571C>T	6.37:g.170159127C>T	ENSP00000355735:p.His191Tyr					C6orf70_ENST00000418781.3_Missense_Mutation_p.H191Y|C6orf70_ENST00000392095.4_Missense_Mutation_p.H65Y|C6orf70_ENST00000366772.2_Missense_Mutation_p.H191Y|C6orf70_ENST00000366773.3_Missense_Mutation_p.H191Y	p.H65Y			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	6	706	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	191					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.193C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620424	0.66787	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	D;D	0.88201	-2.35;-2.18	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000038	D	0.94631	0.8269	M	0.84683	2.71	0.41043	D	0.985241	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.95145	0.8267	10	0.87932	D	0	.	18.1039	0.89513	0.0:1.0:0.0:0.0	.	191;191;191	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	Y	191;191;191;65	ENSP00000355735:H191Y;ENSP00000375945:H65Y	ENSP00000355734:H191Y	H	+	1	0	C6orf70	169901052	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	4.721000	0.61951	2.571000	0.86741	0.655000	0.94253	CAT		0.373	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		41	60	0	0	0	1	0	41	60				
ATXN10	25814	broad.mit.edu	37	22	46125390	46125390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46125390G>A	ENST00000252934.5	+	7	1079	c.814G>A	c.(814-816)Gct>Act	p.A272T	ATXN10_ENST00000381061.4_Missense_Mutation_p.A208T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	272					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTTGCGGCATGCTGAGTTGAT	0.478																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(814-816)Gct>Act		ataxin 10							189.0	142.0	158.0					22																	46125390		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46125390G>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.814G>A	22.37:g.46125390G>A	ENSP00000252934:p.Ala272Thr					ATXN10_ENST00000381061.4_Missense_Mutation_p.A208T	p.A272T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	7	1079	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	272					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.814G>A	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007336	0.54361	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011;ENST00000435026	.	.	.	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.53312	0.959;0.957	P;P	0.49528	0.496;0.614	T	0.61277	-0.7095	9	0.28530	T	0.3	-2.9099	16.1821	0.81915	0.0:0.0:1.0:0.0	.	208;272	A6NLC4;Q9UBB4	.;ATX10_HUMAN	T	208;272;272;24	.	ENSP00000252934:A272T	A	+	1	0	ATXN10	44504054	0.997000	0.39634	0.308000	0.25141	0.014000	0.08584	5.300000	0.65721	2.727000	0.93392	0.655000	0.94253	GCT		0.478	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		27	66	0	0	0	1	0	27	66				
SIK2	23235	broad.mit.edu	37	11	111583019	111583019	+	Missense_Mutation	SNP	G	G	A	rs142089853	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111583019G>A	ENST00000304987.3	+	9	1359	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	396					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GGCATCCAACGTGGAGGCCTT	0.542													G|||	4	0.000798722	0.003	0.0	5008	,	,		18564	0.0		0.0	False		,,,				2504	0.0					ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1186-1188)Gtg>Atg		salt-inducible kinase 2		G	MET/VAL	17,4385	23.3+/-48.9	0,17,2184	94.0	87.0	90.0		1186	1.8	0.3	11	dbSNP_134	90	0,8594		0,0,4297	yes	missense	SIK2	NM_015191.1	21	0,17,6481	AA,AG,GG		0.0,0.3862,0.1308	benign	396/927	111583019	17,12979	2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111583019G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1186G>A	11.37:g.111583019G>A	ENSP00000305976:p.Val396Met						p.V396M	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			9	1359	+			396					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1186G>A	CCDS8347.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	6.798	0.516338	0.12944	0.003862	0.0	ENSG00000170145	ENST00000304987	T	0.73681	-0.77	5.69	1.83	0.25207	.	0.396330	0.21736	N	0.069893	T	0.51449	0.1675	L	0.29908	0.895	0.20196	N	0.999923	B	0.13145	0.007	B	0.11329	0.006	T	0.44697	-0.9311	10	0.39692	T	0.17	.	9.4287	0.38597	0.2711:0.0:0.7289:0.0	.	396	Q9H0K1	SIK2_HUMAN	M	396	ENSP00000305976:V396M	ENSP00000305976:V396M	V	+	1	0	SIK2	111088229	0.972000	0.33761	0.276000	0.24689	0.139000	0.21198	1.619000	0.36965	0.095000	0.17434	-1.743000	0.00684	GTG		0.542	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		4	59	0	0	0	1	0	4	59				
SYNE1	23345	broad.mit.edu	37	6	152470620	152470620	+	Missense_Mutation	SNP	G	G	A	rs139885317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152470620G>A	ENST00000367255.5	-	136	25235	c.24634C>T	c.(24634-24636)Cgc>Tgc	p.R8212C	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2736C|SYNE1_ENST00000539504.1_Missense_Mutation_p.R367C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8212C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7824C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8141C|SYNE1_ENST00000354674.4_Missense_Mutation_p.R367C|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8141C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8212					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGGCAGGCGGATCAGTTTC	0.468										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24634-24636)Cgc>Tgc		spectrin repeat containing, nuclear envelope 1		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	80.0	82.0		24421,24634	5.6	1.0	6	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	8141/8750,8212/8798	152470620	2,13004	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152470620G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24634C>T	6.37:g.152470620G>A	ENSP00000356224:p.Arg8212Cys	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7824C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8212C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8141C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2736C|SYNE1_ENST00000539504.1_Missense_Mutation_p.R367C|SYNE1_ENST00000354674.4_Missense_Mutation_p.R367C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8141C	p.R8212C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	136	25235	-		Ovarian(120;0.0955)	8212					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24634C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	31	5.058352	0.93846	2.27E-4	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.58506	0.4;4.52;1.33;0.36;0.33;0.37;0.53;2.44;1.5;4.51	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000012	T	0.69233	0.3088	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.99;0.998;0.999;0.959	T	0.71494	-0.4576	10	0.87932	D	0	.	19.4997	0.95089	0.0:0.0:1.0:0.0	.	8212;8212;8141;8141;414	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	C	8212;367;858;8141;8212;8141;7824;2736;374;369;1134;367	ENSP00000356224:R8212C;ENSP00000441052:R367C;ENSP00000356226:R858C;ENSP00000396024:R8141C;ENSP00000265368:R8212C;ENSP00000390975:R8141C;ENSP00000341887:R7824C;ENSP00000349276:R2736C;ENSP00000356220:R1134C;ENSP00000346701:R367C	ENSP00000265368:R8212C	R	-	1	0	SYNE1	152512313	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.326000	0.79133	2.611000	0.88343	0.655000	0.94253	CGC		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	25	0	0	0	1	0	28	25				
SLC12A1	6557	broad.mit.edu	37	15	48577345	48577345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48577345C>T	ENST00000558405.1	+	20	2542	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A843V|SLC12A1_ENST00000396577.3_Missense_Mutation_p.A843V			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	843					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCATTGGAAGCGACTATCAAA	0.378																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2527-2529)gCg>gTg		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						131.0	137.0	135.0					15																	48577345		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48577345C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2528C>T	15.37:g.48577345C>T	ENSP00000453409:p.Ala843Val					SLC12A1_ENST00000380993.3_Missense_Mutation_p.A843V|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A843V	p.A843V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	21	2743	+		all_lung(180;0.00219)	843					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2528C>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702976	0.30232	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.85013	-1.93;-1.93	5.37	5.37	0.77165	.	0.347275	0.32161	N	0.006485	T	0.75221	0.3820	N	0.17800	0.525	0.38177	D	0.939513	B;B	0.15141	0.012;0.007	B;B	0.08055	0.003;0.001	T	0.71234	-0.4653	10	0.29301	T	0.29	.	14.3255	0.66518	0.1484:0.8516:0.0:0.0	.	843;843	E9PDW4;Q13621	.;S12A1_HUMAN	V	843	ENSP00000370381:A843V;ENSP00000379822:A843V	ENSP00000370381:A843V	A	+	2	0	SLC12A1	46364637	0.996000	0.38824	0.970000	0.41538	0.393000	0.30537	3.700000	0.54786	2.671000	0.90904	0.655000	0.94253	GCG		0.378	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			4	87	0	0	0	1	0	4	87				
FOXN3	1112	broad.mit.edu	37	14	89628995	89628995	+	Silent	SNP	G	G	A	rs200918416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89628995G>A	ENST00000345097.4	-	7	1352	c.1236C>T	c.(1234-1236)agC>agT	p.S412S	FOXN3_ENST00000557258.1_Silent_p.S390S|FOXN3_ENST00000261302.5_Silent_p.S412S|FOXN3_ENST00000555353.1_Silent_p.S390S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	412					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGCGTACCCGCTGTCCCCCA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16283	0.001		0.0	False		,,,				2504	0.0					ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1234-1236)agC>agT		forkhead box N3							96.0	83.0	87.0					14																	89628995		2203	4300	6503	SO:0001819	synonymous_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89628995G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1236C>T	14.37:g.89628995G>A						FOXN3_ENST00000555353.1_Silent_p.S390S|FOXN3_ENST00000261302.5_Silent_p.S412S|FOXN3_ENST00000557258.1_Silent_p.S390S	p.S412S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1352	-			412					Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	c.1236C>T	CCDS41977.1																																																																																				0.637	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		4	69	0	0	0	1	0	4	69				
MTHFR	4524	broad.mit.edu	37	1	11854429	11854429	+	Missense_Mutation	SNP	G	G	A	rs138469955		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854429G>A	ENST00000376592.1	-	7	1461	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	MTHFR_ENST00000376590.3_Missense_Mutation_p.R445W|MTHFR_ENST00000376583.3_Missense_Mutation_p.R486W|MTHFR_ENST00000376585.1_Missense_Mutation_p.R486W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	445					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TGACCATTCCGGTTTGGTTCT	0.587																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1333-1335)Cgg>Tgg		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	85.0	83.0		1333	4.7	0.3	1	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MTHFR	NM_005957.4	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	445/657	11854429	3,13003	2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11854429G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1333C>T	1.37:g.11854429G>A	ENSP00000365777:p.Arg445Trp					MTHFR_ENST00000376583.3_Missense_Mutation_p.R486W|MTHFR_ENST00000376585.1_Missense_Mutation_p.R486W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R445W	p.R445W			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	7	1461	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	445					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.1333C>T	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564918	0.45694	2.27E-4	2.33E-4	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.74	4.74	0.60224	.	0.561122	0.20452	N	0.092080	T	0.74718	0.3753	L	0.29908	0.895	0.40851	D	0.983755	B;B	0.13145	0.007;0.007	B;B	0.08055	0.002;0.003	T	0.73436	-0.3983	10	0.72032	D	0.01	.	12.8366	0.57777	0.0:0.0:0.8259:0.1741	.	445;486	P42898;Q5SNW6	MTHR_HUMAN;.	W	445;486;445;486	ENSP00000365777:R445W;ENSP00000365767:R486W;ENSP00000365775:R445W;ENSP00000365770:R486W	ENSP00000365767:R486W	R	-	1	2	MTHFR	11777016	0.963000	0.33076	0.264000	0.24511	0.126000	0.20510	1.489000	0.35562	2.341000	0.79615	0.455000	0.32223	CGG		0.587	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		17	40	0	0	0	1	0	17	40				
ZC3H7A	29066	broad.mit.edu	37	16	11861426	11861426	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11861426A>G	ENST00000396516.2	-	12	1566	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	ZC3H7A_ENST00000355758.4_Silent_p.L457L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	457						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAATCCATTAACTTAGGGCCT	0.294																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(1369-1371)Tta>Cta		zinc finger CCCH-type containing 7A							96.0	95.0	95.0					16																	11861426		2196	4296	6492	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11861426A>G	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1369T>C	16.37:g.11861426A>G						ZC3H7A_ENST00000355758.4_Silent_p.L457L	p.L457L			Q8IWR0	Z3H7A_HUMAN			12	1566	-			457					D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.1369T>C	CCDS10550.1																																																																																				0.294	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		6	73	0	0	0	1	0	6	73				
PTPRO	5800	broad.mit.edu	37	12	15668485	15668485	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15668485G>T	ENST00000281171.4	+	8	1848	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	PTPRO_ENST00000348962.2_Missense_Mutation_p.Q506H|PTPRO_ENST00000543886.1_Missense_Mutation_p.Q506H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	506	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCAGTACCAGGTTGTAATAT	0.413																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1516-1518)caG>caT		protein tyrosine phosphatase, receptor type, O							120.0	110.0	113.0					12																	15668485		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15668485G>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1518G>T	12.37:g.15668485G>T	ENSP00000281171:p.Gln506His					PTPRO_ENST00000543886.1_Missense_Mutation_p.Q506H|PTPRO_ENST00000348962.2_Missense_Mutation_p.Q506H	p.Q506H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			8	1848	+		Hepatocellular(102;0.244)	506			Fibronectin type-III 5.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1518G>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990728	0.54041	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.57907	0.37;0.37;0.37	5.15	4.26	0.50523	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000160	T	0.49064	0.1535	N	0.19112	0.55	0.80722	D	1	P;P;D	0.61080	0.846;0.873;0.989	B;P;P	0.58077	0.367;0.5;0.832	T	0.48790	-0.9004	10	0.46703	T	0.11	.	8.6874	0.34245	0.225:0.0:0.775:0.0	.	506;506;506	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	H	506	ENSP00000281171:Q506H;ENSP00000444173:Q506H;ENSP00000343434:Q506H	ENSP00000281171:Q506H	Q	+	3	2	PTPRO	15559752	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.001000	0.29783	1.410000	0.46936	0.650000	0.86243	CAG		0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			9	83	1	0	5.4927e-09	1	6.6252e-09	9	83				
AMPD1	270	broad.mit.edu	37	1	115222982	115222982	+	Missense_Mutation	SNP	G	G	A	rs369685849		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115222982G>A	ENST00000520113.2	-	6	779	c.764C>T	c.(763-765)gCa>gTa	p.A255V	AMPD1_ENST00000353928.6_Missense_Mutation_p.A222V|AMPD1_ENST00000369538.3_Missense_Mutation_p.A251V			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	255					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCTGACTGCTGCTTCATTAGG	0.443																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(751-753)gCa>gTa		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	193.0	178.0	183.0		752,764	-1.1	0.5	1		183	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPD1	NM_001172626.1,NM_000036.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	251/777,255/781	115222982	1,13005	2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222982G>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.764C>T	1.37:g.115222982G>A	ENSP00000430075:p.Ala255Val					AMPD1_ENST00000520113.2_Missense_Mutation_p.A255V|AMPD1_ENST00000353928.6_Missense_Mutation_p.A222V	p.A251V	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	799	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	222					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.752C>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780300	0.31502	0.0	1.16E-4	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91407	-2.84;-2.84;-2.84	6.07	-1.13	0.09775	.	0.346876	0.36665	N	0.002465	D	0.82655	0.5084	M	0.76328	2.33	0.40456	D	0.980199	B;B	0.32573	0.376;0.042	B;B	0.34824	0.19;0.06	T	0.75714	-0.3221	10	0.27082	T	0.32	-0.77	12.5423	0.56179	0.0587:0.0:0.2696:0.6717	.	251;222	Q5TF02;P23109	.;AMPD1_HUMAN	V	255;251;222	ENSP00000430075:A255V;ENSP00000358551:A251V;ENSP00000316520:A222V	ENSP00000316520:A222V	A	-	2	0	AMPD1	115024505	0.051000	0.20477	0.528000	0.27938	0.466000	0.32739	0.309000	0.19332	-0.136000	0.11475	-0.225000	0.12378	GCA		0.443	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			18	159	0	0	0	1	0	18	159				
SCAP	22937	broad.mit.edu	37	3	47459213	47459213	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459213T>C	ENST00000265565.5	-	17	2963	c.2551A>G	c.(2551-2553)Agc>Ggc	p.S851G	SCAP_ENST00000441517.2_Missense_Mutation_p.S595G|SCAP_ENST00000545718.1_Missense_Mutation_p.S458G|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	851	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGGGAGGGCTGTCCCCAGGC	0.662																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2551-2553)Agc>Ggc		SREBF chaperone							16.0	20.0	18.0					3																	47459213		2186	4285	6471	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47459213T>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2551A>G	3.37:g.47459213T>C	ENSP00000265565:p.Ser851Gly					SCAP_ENST00000545718.1_Missense_Mutation_p.S458G|SCAP_ENST00000441517.2_Missense_Mutation_p.S595G	p.S851G	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	17	2963	-			851			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.2551A>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738658	0.30774	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.80304	-1.36;-1.35;0.79	4.74	4.74	0.60224	.	0.265649	0.43579	D	0.000543	T	0.60143	0.2246	N	0.11560	0.145	0.26767	N	0.969888	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45977	-0.9224	10	0.25751	T	0.34	-23.1299	7.0066	0.24840	0.0:0.1717:0.0:0.8283	.	595;851	F8W921;Q12770	.;SCAP_HUMAN	G	477;851;595;458	ENSP00000265565:S851G;ENSP00000416847:S595G;ENSP00000438956:S458G	ENSP00000265565:S851G	S	-	1	0	SCAP	47434217	0.130000	0.22417	0.997000	0.53966	0.577000	0.36160	0.716000	0.25836	1.999000	0.58509	0.454000	0.30748	AGC		0.662	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		9	9	0	0	0	1	0	9	9				
TRRAP	8295	broad.mit.edu	37	7	98515147	98515147	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515147T>C	ENST00000359863.4	+	20	2676	c.2467T>C	c.(2467-2469)Tac>Cac	p.Y823H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Y822H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Y823H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	823					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTTTGCCGTACCTGCCCAT	0.567																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2467-2469)Tac>Cac		transformation/transcription domain-associated protein							158.0	128.0	138.0					7																	98515147		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98515147T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2467T>C	7.37:g.98515147T>C	ENSP00000352925:p.Tyr823His					TRRAP_ENST00000355540.3_Missense_Mutation_p.Y823H|TRRAP_ENST00000446306.3_Missense_Mutation_p.Y822H	p.Y823H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2676	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		823					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2467T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330180	0.60743	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.64991	3.51;-0.13	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.39467	1.215	0.80722	D	1	D;D;D	0.89917	0.999;0.963;1.0	D;P;D	0.91635	0.982;0.859;0.999	T	0.65175	-0.6232	10	0.16896	T	0.51	.	15.7903	0.78350	0.0:0.0:0.0:1.0	.	823;537;823	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	H	823;823;821	ENSP00000352925:Y823H;ENSP00000347733:Y823H	ENSP00000347733:Y823H	Y	+	1	0	TRRAP	98353083	1.000000	0.71417	0.998000	0.56505	0.068000	0.16541	8.040000	0.89188	2.139000	0.66308	0.379000	0.24179	TAC		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	92	0	0	0	1	0	4	92				
RDH13	112724	broad.mit.edu	37	19	55556517	55556517	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55556517C>A	ENST00000415061.3	-	7	1064	c.921G>T	c.(919-921)cgG>cgT	p.R307R	CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000592423.1_5'Flank|CTC-550B14.7_ENST00000593060.1_RNA|RDH13_ENST00000396247.3_Silent_p.R236R	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	307					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCCAAAGCCTCCGGGCCACCT	0.622																																						ENST00000396247.3																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12						c.(706-708)cgG>cgT		retinol dehydrogenase 13 (all-trans/9-cis)	Vitamin A(DB00162)						29.0	34.0	32.0					19																	55556517		1881	4102	5983	SO:0001819	synonymous_variant	112724						binding|oxidoreductase activity	g.chr19:55556517C>A		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.921G>T	19.37:g.55556517C>A						RDH13_ENST00000415061.3_Silent_p.R307R|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	p.R236R	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	8	1180	-			307					Q6UX79|Q96G88	Silent	SNP	ENST00000415061.3	37	c.708G>T	CCDS54320.1																																																																																				0.622	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		5	43	1	0	0.014758	1	0.0152625	5	43				
RAB2A	5862	broad.mit.edu	37	8	61533300	61533300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61533300G>A	ENST00000262646.7	+	8	962	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Missense_Mutation_p.G180E|RAB2A_ENST00000529579.1_Missense_Mutation_p.D167N	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	204					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AATCAGGGAGGACAGCAGGCT	0.493																																						ENST00000262646.7																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(610-612)gGa>gAa		RAB2A, member RAS oncogene family							76.0	84.0	81.0					8																	61533300		2203	4300	6503	SO:0001583	missense	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61533300G>A		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.611G>A	8.37:g.61533300G>A	ENSP00000262646:p.Gly204Glu					RAB2A_ENST00000531289.1_Missense_Mutation_p.G180E|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.D167N	p.G204E	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		8	962	+			204					B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	c.611G>A	CCDS6175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.138|6.138	0.393667|0.393667	0.11638|0.11638	.|.	.|.	ENSG00000104388|ENSG00000104388	ENST00000529579|ENST00000262646;ENST00000531289;ENST00000543829	T|T;T	0.63417|0.61274	-0.04|0.12;0.52	5.81|5.81	4.91|4.91	0.64330|0.64330	.|.	.|0.049720	.|0.85682	.|D	.|0.000000	T|T	0.40015|0.40015	0.1100|0.1100	N|N	0.19112|0.19112	0.55|0.55	0.34232|0.34232	D|D	0.67659|0.67659	.|B;B	.|0.16802	.|0.019;0.008	.|B;B	.|0.12156	.|0.007;0.007	T|T	0.36648|0.36648	-0.9739|-0.9739	7|10	0.12103|0.05833	T|T	0.63|0.94	.|.	17.0096|17.0096	0.86401|0.86401	0.0:0.1267:0.8733:0.0|0.0:0.1267:0.8733:0.0	.|.	.|180;204	.|B4DMQ5;P61019	.|.;RAB2A_HUMAN	N|E	167|204;180;158	ENSP00000431589:D167N|ENSP00000262646:G204E;ENSP00000431846:G180E	ENSP00000431589:D167N|ENSP00000262646:G204E	D|G	+|+	1|2	0|0	RAB2A|RAB2A	61695854|61695854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.145000|7.145000	0.77365|0.77365	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	GAC|GGA		0.493	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			14	31	0	0	0	1	0	14	31				
ARL4D	379	broad.mit.edu	37	17	41477481	41477481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41477481C>T	ENST00000320033.4	+	2	588	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	127					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAACCAGGGCGTGCCAGTGC	0.657																																						ENST00000320033.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(379-381)ggC>ggT		ADP-ribosylation factor-like 4D							33.0	36.0	35.0					17																	41477481		2203	4300	6503	SO:0001819	synonymous_variant	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477481C>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.381C>T	17.37:g.41477481C>T							p.G127G	NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	588	+		Breast(137;0.00908)	127					B2RC59|D3DX43	Silent	SNP	ENST00000320033.4	37	c.381C>T	CCDS11463.1																																																																																				0.657	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		5	13	0	0	0	1	0	5	13				
TPR	7175	broad.mit.edu	37	1	186329083	186329083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329083T>C	ENST00000367478.4	-	12	1533	c.1237A>G	c.(1237-1239)Aaa>Gaa	p.K413E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	413					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTCTAGTTTCTCCAAAAGC	0.363			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1237-1239)Aaa>Gaa		translocated promoter region, nuclear basket protein							126.0	111.0	116.0					1																	186329083		1832	4081	5913	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329083T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1237A>G	1.37:g.186329083T>C	ENSP00000356448:p.Lys413Glu					TPR_ENST00000474852.1_5'UTR	p.K413E	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	12	1533	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	413					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1237A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288306	0.80803	.	.	ENSG00000047410	ENST00000367478	T	0.01034	5.42	5.87	5.87	0.94306	.	0.048190	0.85682	D	0.000000	T	0.03608	0.0103	L	0.53249	1.67	0.39274	D	0.964444	D;D	0.60575	0.982;0.988	P;P	0.59643	0.861;0.696	T	0.50180	-0.8858	10	0.72032	D	0.01	.	16.2631	0.82557	0.0:0.0:0.0:1.0	.	413;413	Q15624;P12270	.;TPR_HUMAN	E	413	ENSP00000356448:K413E	ENSP00000356448:K413E	K	-	1	0	TPR	184595706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.992000	0.56980	2.239000	0.73571	0.528000	0.53228	AAA		0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		24	41	0	0	0	1	0	24	41				
MED26	9441	broad.mit.edu	37	19	16688338	16688338	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16688338G>A	ENST00000263390.3	-	3	565	c.303C>T	c.(301-303)acC>acT	p.T101T	CTD-3222D19.2_ENST00000409035.1_Silent_p.T109T|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	101					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGCAGAGCCGGTGGCCCCCG	0.706																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(301-303)acC>acT		mediator complex subunit 26							13.0	17.0	16.0					19																	16688338		2145	4238	6383	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688338G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.303C>T	19.37:g.16688338G>A						CTD-3222D19.2_ENST00000409035.1_Silent_p.T109T	p.T101T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	565	-			101					A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.303C>T	CCDS12347.1																																																																																				0.706	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		7	17	0	0	0	1	0	7	17				
LRP1B	53353	broad.mit.edu	37	2	141460073	141460073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460073G>A	ENST00000389484.3	-	38	7044	c.6073C>T	c.(6073-6075)Cgc>Tgc	p.R2025C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2025					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2025S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.R2025S(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6073-6075)Cgc>Tgc		low density lipoprotein receptor-related protein 1B							102.0	94.0	97.0					2																	141460073		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141460073G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6073C>T	2.37:g.141460073G>A	ENSP00000374135:p.Arg2025Cys	TSP Lung(27;0.18)					p.R2025C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	38	7044	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2025					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6073C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534720	0.64972	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91237	-2.81	5.16	4.23	0.50019	Six-bladed beta-propeller, TolB-like (1);	0.346876	0.25433	U	0.030707	D	0.93697	0.7986	M	0.86178	2.8	0.54753	D	0.999981	D	0.71674	0.998	P	0.57846	0.828	D	0.92678	0.6156	10	0.39692	T	0.17	.	10.9381	0.47257	0.0725:0.0:0.798:0.1296	.	2025	Q9NZR2	LRP1B_HUMAN	C	2025;1963	ENSP00000374135:R2025C	ENSP00000374135:R2025C	R	-	1	0	LRP1B	141176543	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.548000	0.73896	2.554000	0.86153	0.557000	0.71058	CGC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	42	0	0	0	1	0	27	42				
VSTM4	196740	broad.mit.edu	37	10	50315727	50315727	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50315727C>T	ENST00000332853.4	-	2	392	c.369G>A	c.(367-369)ggG>ggA	p.G123G	VSTM4_ENST00000298454.3_Silent_p.G123G	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	123	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGACGTAATGCCCTTGATCGG	0.627																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(367-369)ggG>ggA		V-set and transmembrane domain containing 4							116.0	111.0	113.0					10																	50315727		2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50315727C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.369G>A	10.37:g.50315727C>T						VSTM4_ENST00000298454.3_Silent_p.G123G	p.G123G	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			2	392	-			123			Ig-like.		B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.369G>A	CCDS31198.1																																																																																				0.627	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		16	53	0	0	0	1	0	16	53				
GOLGA3	2802	broad.mit.edu	37	12	133353256	133353256	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133353256G>A	ENST00000450791.2	-	20	4125	c.3942C>T	c.(3940-3942)ggC>ggT	p.G1314G	GOLGA3_ENST00000456883.2_Silent_p.G1314G|GOLGA3_ENST00000204726.3_Silent_p.G1314G			Q08378	GOGA3_HUMAN	golgin A3	1314	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTCCTTCCTGCCCTGCTGCT	0.562																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3940-3942)ggC>ggT		golgin A3							97.0	89.0	92.0					12																	133353256		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353256G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3942C>T	12.37:g.133353256G>A						GOLGA3_ENST00000450791.2_Silent_p.G1314G|GOLGA3_ENST00000456883.2_Silent_p.G1314G	p.G1314G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4500	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1314			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3942C>T	CCDS9281.1																																																																																				0.562	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	74	0	0	0	1	0	4	74				
EHBP1L1	254102	broad.mit.edu	37	11	65347678	65347678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65347678G>A	ENST00000309295.4	+	5	704	c.439G>A	c.(439-441)Gct>Act	p.A147T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	147						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGGTGCAGGCTGAGCTGAG	0.667																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(439-441)Gct>Act		EH domain binding protein 1-like 1							71.0	80.0	77.0					11																	65347678		2193	4278	6471	SO:0001583	missense	254102							g.chr11:65347678G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.439G>A	11.37:g.65347678G>A	ENSP00000312671:p.Ala147Thr						p.A147T	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			5	704	+			147					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.439G>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061476	0.93846	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.52754	0.65;0.65	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.70482	0.3229	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.75190	-0.3405	10	0.87932	D	0	.	14.4939	0.67670	0.0:0.0:1.0:0.0	.	147	Q8N3D4	EH1L1_HUMAN	T	147	ENSP00000312671:A147T;ENSP00000431996:A147T	ENSP00000312671:A147T	A	+	1	0	EHBP1L1	65104254	1.000000	0.71417	0.124000	0.21820	0.960000	0.62799	7.774000	0.85478	2.503000	0.84419	0.555000	0.69702	GCT		0.667	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		10	29	0	0	0	1	0	10	29				
NOX3	50508	broad.mit.edu	37	6	155761125	155761125	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155761125G>A	ENST00000159060.2	-	6	735	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	211	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GAAAGAAGACGATGAAAACAT	0.463																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(631-633)atC>atT		NADPH oxidase 3							138.0	126.0	130.0					6																	155761125		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761125G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.633C>T	6.37:g.155761125G>A							p.I211I	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	735	-		Breast(66;0.0183)	211			Ferric oxidoreductase.		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.633C>T	CCDS5250.1																																																																																				0.463	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			17	24	0	0	0	1	0	17	24				
TNFSF12	8742	broad.mit.edu	37	17	7460102	7460102	+	Silent	SNP	C	C	T	rs576803878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7460102C>T	ENST00000293825.6	+	6	644	c.381C>T	c.(379-381)gaC>gaT	p.D127D	TNFSF12_ENST00000557233.1_Silent_p.D127D|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.D127D|TNFSF13_ENST00000396542.1_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	127					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CAGGTGTGGACGGGACAGTGA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17369	0.0		0.0	False		,,,				2504	0.001					ENST00000293826.4																			0				central_nervous_system(1)|large_intestine(2)	3						c.(379-381)gaC>gaT									60.0	57.0	58.0					17																	7460102		2203	4300	6503	SO:0001819	synonymous_variant	0				immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7460102C>T	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.381C>T	17.37:g.7460102C>T						TNFSF12_ENST00000293825.6_Silent_p.D127D|TNFSF12_ENST00000462811.1_3'UTR|TNFSF12_ENST00000557233.1_Silent_p.D127D	p.D127D	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN			6	436	+		Prostate(122;0.157)	127					Q8IZK7|Q8WUZ7	Silent	SNP	ENST00000293825.6	37	c.381C>T	CCDS11109.1																																																																																				0.577	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		17	15	0	0	0	1	0	17	15				
COL11A1	1301	broad.mit.edu	37	1	103471830	103471830	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103471830T>A	ENST00000370096.3	-	16	2037	c.1725A>T	c.(1723-1725)aaA>aaT	p.K575N	COL11A1_ENST00000353414.4_Missense_Mutation_p.K536N|COL11A1_ENST00000512756.1_Missense_Mutation_p.K459N|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.K587N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	575	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTCCAGGTTTTCCCGTTG	0.338																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1759-1761)aaA>aaT		collagen, type XI, alpha 1							51.0	58.0	56.0					1																	103471830		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471830T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1725A>T	1.37:g.103471830T>A	ENSP00000359114:p.Lys575Asn					COL11A1_ENST00000512756.1_Missense_Mutation_p.K459N|COL11A1_ENST00000370096.3_Missense_Mutation_p.K575N|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.K536N	p.K587N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	16	2078	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	575			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1761A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963619	0.53507	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.2	5.5	3.12	0.35913	.	0.049451	0.85682	N	0.000000	D	0.82793	0.5114	L	0.35723	1.085	0.58432	D	0.999998	B;B;B;B	0.20988	0.025;0.02;0.05;0.025	B;B;B;B	0.21360	0.034;0.02;0.029;0.034	T	0.78142	-0.2319	10	0.87932	D	0	.	9.7472	0.40453	0.0:0.1418:0.0:0.8582	.	459;536;587;575	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	575;587;536;459	ENSP00000359114:K575N;ENSP00000351163:K587N;ENSP00000302551:K536N;ENSP00000426533:K459N	ENSP00000302551:K536N	K	-	3	2	COL11A1	103244418	0.191000	0.23288	0.998000	0.56505	0.952000	0.60782	0.221000	0.17680	0.366000	0.24427	0.460000	0.39030	AAA		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	95	0	0	0	1	0	5	95				
ZIC2	7546	broad.mit.edu	37	13	100635217	100635217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100635217A>G	ENST00000376335.3	+	1	1192	c.899A>G	c.(898-900)cAc>cGc	p.H300R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	300					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAGCAACCACGTCTGCTTC	0.587																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(898-900)cAc>cGc		Zic family member 2							120.0	123.0	122.0					13																	100635217		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635217A>G	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.899A>G	13.37:g.100635217A>G	ENSP00000365514:p.His300Arg						p.H300R	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1192	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		300					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.899A>G	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250978	0.80135	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.91180	-2.8	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	N	0.25144	0.715	0.80722	D	1	D	0.63880	0.993	D	0.68483	0.958	D	0.92591	0.6083	10	0.87932	D	0	.	14.5943	0.68395	1.0:0.0:0.0:0.0	.	300	O95409	ZIC2_HUMAN	R	300;49	ENSP00000365514:H300R	ENSP00000365514:H300R	H	+	2	0	ZIC2	99433218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.109000	0.64355	0.459000	0.35465	CAC		0.587	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		34	43	0	0	0	1	0	34	43				
KIRREL	55243	broad.mit.edu	37	1	158064462	158064462	+	Missense_Mutation	SNP	G	G	A	rs147886424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158064462G>A	ENST00000359209.6	+	15	1893	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H	KIRREL_ENST00000416935.2_Missense_Mutation_p.R509H|KIRREL_ENST00000368172.1_Missense_Mutation_p.R423H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R506H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R625H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R445H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	609					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACAACGTGCGTGCCCATGAA	0.622																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1267-1269)cGt>cAt		kin of IRRE like (Drosophila)		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	58.0	63.0	61.0		1826	4.0	1.0	1	dbSNP_134	61	0,8600		0,0,4300	no	missense	KIRREL	NM_018240.5	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	609/758	158064462	2,13004	2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064462G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1826G>A	1.37:g.158064462G>A	ENSP00000352138:p.Arg609His					KIRREL_ENST00000360089.4_Missense_Mutation_p.R445H|KIRREL_ENST00000359209.6_Missense_Mutation_p.R609H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R509H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R506H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R625H	p.R423H			Q96J84	KIRR1_HUMAN			11	1280	+	all_hematologic(112;0.0378)		609			Ig-like C2-type 5.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1268G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487903	0.64074	4.54E-4	0.0	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	4.91	3.99	0.46301	.	0.000000	0.43260	D	0.000586	T	0.40791	0.1131	L	0.59436	1.845	0.80722	D	1	B;B;P;B	0.38300	0.175;0.066;0.626;0.036	B;B;B;B	0.32022	0.026;0.008;0.139;0.005	T	0.54227	-0.8325	10	0.59425	D	0.04	-11.0372	10.2455	0.43339	0.0969:0.0:0.9031:0.0	.	509;445;423;609	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	445;625;506;609;509;423	ENSP00000353202:R445H;ENSP00000357155:R625H;ENSP00000376098:R506H;ENSP00000352138:R609H;ENSP00000389674:R509H;ENSP00000357154:R423H	ENSP00000352138:R609H	R	+	2	0	KIRREL	156331086	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.252000	0.65445	2.255000	0.74692	0.462000	0.41574	CGT		0.622	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		18	30	0	0	0	1	0	18	30				
PPP4R1	9989	broad.mit.edu	37	18	9559476	9559476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9559476C>T	ENST00000400556.3	-	14	2042	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	PPP4R1_ENST00000400555.3_Missense_Mutation_p.G640R	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	657					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TTCTGTCTTCCGAGTGTCAAG	0.483																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1969-1971)Gga>Aga		protein phosphatase 4, regulatory subunit 1							205.0	189.0	194.0					18																	9559476		2026	4186	6212	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559476C>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1969G>A	18.37:g.9559476C>T	ENSP00000383402:p.Gly657Arg					PPP4R1_ENST00000400555.3_Missense_Mutation_p.G640R	p.G657R	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			14	2042	-			657					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1969G>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262302	0.95368	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.33654	1.4;1.4	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.257421	0.40302	N	0.001124	T	0.68403	0.2997	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.971;0.997;0.999	T	0.73319	-0.4020	9	.	.	.	-31.6978	19.5562	0.95349	0.0:1.0:0.0:0.0	.	640;657;640	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	R	657;640	ENSP00000383402:G657R;ENSP00000383401:G640R	.	G	-	1	0	PPP4R1	9549476	1.000000	0.71417	0.955000	0.39395	0.905000	0.53344	7.487000	0.81328	2.628000	0.89032	0.650000	0.86243	GGA		0.483	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		101	142	0	0	0	1	0	101	142				
TCTE1	202500	broad.mit.edu	37	6	44253802	44253802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44253802C>T	ENST00000371505.4	-	3	867	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.V96I|TCTE1_ENST00000371504.1_Missense_Mutation_p.V96I	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	249										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGTCCTTGACATCGTACACC	0.587																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(745-747)Gtc>Atc		t-complex-associated-testis-expressed 1							130.0	116.0	121.0					6																	44253802		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44253802C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.745G>A	6.37:g.44253802C>T	ENSP00000360560:p.Val249Ile					TCTE1_ENST00000371503.3_Missense_Mutation_p.V96I|TCTE1_ENST00000371504.1_Missense_Mutation_p.V96I|TMEM151B_ENST00000438774.2_Intron	p.V249I	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	867	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		249					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.745G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906001	0.52333	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.57907	1.8;0.37;0.37	4.89	4.02	0.46733	.	0.190741	0.45867	N	0.000330	T	0.38374	0.1038	M	0.78049	2.395	0.45621	D	0.998553	B	0.25390	0.125	B	0.19666	0.026	T	0.40869	-0.9540	10	0.42905	T	0.14	-38.4992	13.0023	0.58683	0.0:0.921:0.0:0.079	.	249	Q5JU00	TCTE1_HUMAN	I	249;96;96	ENSP00000360560:V249I;ENSP00000360558:V96I;ENSP00000360559:V96I	ENSP00000360558:V96I	V	-	1	0	TCTE1	44361780	0.997000	0.39634	0.798000	0.32154	0.929000	0.56500	3.582000	0.53921	1.056000	0.40484	0.462000	0.41574	GTC		0.587	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		9	94	0	0	0	1	0	9	94				
TMEM135	65084	broad.mit.edu	37	11	87024485	87024485	+	Missense_Mutation	SNP	C	C	T	rs202089067		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:87024485C>T	ENST00000305494.5	+	11	994	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	TMEM135_ENST00000532959.1_Missense_Mutation_p.R190C|TMEM135_ENST00000535167.1_Missense_Mutation_p.R180C|TMEM135_ENST00000340353.7_Missense_Mutation_p.R297C	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	319					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTTCCTGCGCTGGATCAG	0.294																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(889-891)Cgc>Tgc		transmembrane protein 135							94.0	97.0	96.0					11																	87024485		2201	4297	6498	SO:0001583	missense	65084					integral to membrane		g.chr11:87024485C>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.955C>T	11.37:g.87024485C>T	ENSP00000306344:p.Arg319Cys					TMEM135_ENST00000532959.1_Missense_Mutation_p.R190C|TMEM135_ENST00000305494.5_Missense_Mutation_p.R319C|TMEM135_ENST00000535167.1_Missense_Mutation_p.R180C	p.R297C	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			10	1091	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	319					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.889C>T	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350230	0.82132	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.77680	-0.2497	9	.	.	.	-12.854	18.3398	0.90302	0.0:1.0:0.0:0.0	.	297;319	Q86UB9-2;Q86UB9	.;TM135_HUMAN	C	297;156;190;319;180	ENSP00000345513:R297C;ENSP00000436179:R190C;ENSP00000306344:R319C;ENSP00000439525:R180C	.	R	+	1	0	TMEM135	86702133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.235000	0.65348	2.579000	0.87056	0.655000	0.94253	CGC		0.294	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		5	108	0	0	0	1	0	5	108				
RAP2C	57826	broad.mit.edu	37	X	131351031	131351031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131351031G>A	ENST00000342983.2	-	2	1012	c.266C>T	c.(265-267)tCt>tTt	p.S89F	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.S89F|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	89					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TACCTGAAAAGACTGTTGATT	0.458																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(265-267)tCt>tTt		RAP2C, member of RAS oncogene family							82.0	79.0	80.0					X																	131351031		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351031G>A	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.266C>T	X.37:g.131351031G>A	ENSP00000340274:p.Ser89Phe					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.S89F	p.S89F	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	1012	-	Acute lymphoblastic leukemia(192;0.000127)		89					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.266C>T	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.162262	0.78226	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	D;D	0.84370	-1.84;-1.84	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	H	0.98866	4.355	0.48452	D	0.99965	D	0.89917	1.0	D	0.85130	0.997	D	0.98047	1.0385	10	0.87932	D	0	.	18.116	0.89555	0.0:0.0:1.0:0.0	.	89	Q9Y3L5	RAP2C_HUMAN	F	89	ENSP00000340274:S89F;ENSP00000359911:S89F	ENSP00000340274:S89F	S	-	2	0	RAP2C	131178712	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.391000	0.59652	2.301000	0.77427	0.591000	0.81541	TCT		0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		37	66	0	0	0	1	0	37	66				
LPHN2	23266	broad.mit.edu	37	1	82436143	82436143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82436143C>T	ENST00000370728.1	+	18	3512	c.2867C>T	c.(2866-2868)gCt>gTt	p.A956V	LPHN2_ENST00000370723.1_Missense_Mutation_p.A943V|LPHN2_ENST00000370713.1_Missense_Mutation_p.A943V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.A956V|LPHN2_ENST00000271029.4_Missense_Mutation_p.A956V|LPHN2_ENST00000370725.1_Missense_Mutation_p.A956V|LPHN2_ENST00000394879.1_Missense_Mutation_p.A943V|LPHN2_ENST00000370715.1_Missense_Mutation_p.A943V|LPHN2_ENST00000359929.3_Missense_Mutation_p.A943V|LPHN2_ENST00000319517.6_Missense_Mutation_p.A943V|LPHN2_ENST00000370721.1_Missense_Mutation_p.A881V|LPHN2_ENST00000335786.5_Missense_Mutation_p.A956V|LPHN2_ENST00000370727.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370717.2_Missense_Mutation_p.A956V			O95490	LPHN2_HUMAN	latrophilin 2	956					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TACTATGTTGCTGGTTACTTG	0.398																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2866-2868)gCt>gTt		latrophilin 2							115.0	115.0	115.0					1																	82436143		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436143C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2867C>T	1.37:g.82436143C>T	ENSP00000359763:p.Ala956Val					LPHN2_ENST00000370727.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370715.1_Missense_Mutation_p.A943V|LPHN2_ENST00000359929.3_Missense_Mutation_p.A943V|LPHN2_ENST00000370717.2_Missense_Mutation_p.A956V|LPHN2_ENST00000370713.1_Missense_Mutation_p.A943V|LPHN2_ENST00000370725.1_Missense_Mutation_p.A956V|LPHN2_ENST00000319517.6_Missense_Mutation_p.A943V|LPHN2_ENST00000271029.4_Missense_Mutation_p.A956V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.A956V|LPHN2_ENST00000335786.5_Missense_Mutation_p.A956V|LPHN2_ENST00000370721.1_Missense_Mutation_p.A881V|LPHN2_ENST00000370723.1_Missense_Mutation_p.A943V|LPHN2_ENST00000394879.1_Missense_Mutation_p.A943V	p.A956V			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3512	+			956					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2867C>T		.	.	.	.	.	.	.	.	.	.	C	4.204	0.036653	0.08148	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.73	5.73	0.89815	GPCR, family 2-like (1);	0.059250	0.64402	D	0.000001	T	0.11707	0.0285	N	0.05534	-0.03	0.44595	D	0.997562	B;B;B;B	0.28082	0.016;0.109;0.2;0.125	B;B;B;B	0.33620	0.069;0.149;0.167;0.149	T	0.08207	-1.0733	10	0.06494	T	0.89	.	15.3888	0.74726	0.0:0.8612:0.1388:0.0	.	956;943;943;943	O95490;O95490-3;O95490-4;O95490-2	LPHN2_HUMAN;.;.;.	V	881;956;956;956;956;943;943;943;943;943;956;943;956;956	ENSP00000359756:A881V;ENSP00000359763:A956V;ENSP00000359765:A956V;ENSP00000359762:A956V;ENSP00000359760:A956V;ENSP00000359758:A943V;ENSP00000353006:A943V;ENSP00000359750:A943V;ENSP00000359748:A943V;ENSP00000322270:A943V;ENSP00000359752:A956V;ENSP00000378344:A943V;ENSP00000271029:A956V;ENSP00000337306:A956V	ENSP00000271029:A956V	A	+	2	0	LPHN2	82208731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.913000	0.63341	2.715000	0.92844	0.591000	0.81541	GCT		0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		68	40	0	0	0	1	0	68	40				
THADA	63892	broad.mit.edu	37	2	43800057	43800057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43800057G>A	ENST00000405006.4	-	12	2155	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	THADA_ENST00000403856.1_Nonsense_Mutation_p.R602*|THADA_ENST00000402360.2_Nonsense_Mutation_p.R602*|THADA_ENST00000405975.2_Nonsense_Mutation_p.R602*|THADA_ENST00000415080.2_Nonsense_Mutation_p.R312*|THADA_ENST00000330266.7_Nonsense_Mutation_p.R312*|THADA_ENST00000404790.1_Nonsense_Mutation_p.R602*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	602										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTAGCTATTCGCAGACATGCC	0.458																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1804-1806)Cga>Tga		thyroid adenoma associated							94.0	94.0	94.0					2																	43800057		1929	4125	6054	SO:0001587	stop_gained	63892						binding	g.chr2:43800057G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1804C>T	2.37:g.43800057G>A	ENSP00000385995:p.Arg602*					THADA_ENST00000405006.4_Nonsense_Mutation_p.R602*|THADA_ENST00000415080.2_Nonsense_Mutation_p.R312*|THADA_ENST00000405975.2_Nonsense_Mutation_p.R602*|THADA_ENST00000402360.2_Nonsense_Mutation_p.R602*|THADA_ENST00000330266.7_Nonsense_Mutation_p.R312*|THADA_ENST00000404790.1_Nonsense_Mutation_p.R602*	p.R602*			Q6YHU6	THADA_HUMAN			13	1951	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	602					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Nonsense_Mutation	SNP	ENST00000405006.4	37	c.1804C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	37	6.455381	0.97581	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	.	.	.	5.46	3.46	0.39613	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6922	11.8973	0.52663	0.0:0.0:0.4048:0.5952	.	.	.	.	X	312;602;602;312;602;602;602;602	.	ENSP00000331105:R312X	R	-	1	2	THADA	43653561	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	4.337000	0.59310	1.289000	0.44618	0.655000	0.94253	CGA		0.458	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		22	31	0	0	0	1	0	22	31				
TEAD4	7004	broad.mit.edu	37	12	3128322	3128322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3128322C>T	ENST00000397122.2	+	6	467	c.182C>T	c.(181-183)cCg>cTg	p.P61L	TEAD4_ENST00000359864.2_Missense_Mutation_p.P190L|TEAD4_ENST00000358409.2_Missense_Mutation_p.P147L	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	190					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCCAGCCTCCGCTGCCTCTG	0.682																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(568-570)cCg>cTg		TEA domain family member 4							87.0	70.0	76.0					12																	3128322		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3128322C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.182C>T	12.37:g.3128322C>T	ENSP00000380311:p.Pro61Leu					TEAD4_ENST00000397122.2_Missense_Mutation_p.P61L|TEAD4_ENST00000358409.2_Missense_Mutation_p.P147L	p.P190L	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		8	759	+	Ovarian(42;0.211)		190					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.569C>T	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432419	0.62844	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.29655	1.56;1.56;1.56	5.0	5.0	0.66597	.	0.316936	0.30959	N	0.008527	T	0.38719	0.1051	M	0.80982	2.52	0.58432	D	0.999999	P	0.45176	0.852	B	0.37833	0.259	T	0.53457	-0.8436	10	0.87932	D	0	-4.8067	17.2947	0.87167	0.0:1.0:0.0:0.0	.	190	Q15561	TEAD4_HUMAN	L	147;190;61	ENSP00000351184:P147L;ENSP00000352926:P190L;ENSP00000380311:P61L	ENSP00000351184:P147L	P	+	2	0	TEAD4	2998583	0.915000	0.31059	0.974000	0.42286	0.729000	0.41735	3.116000	0.50399	2.313000	0.78055	0.561000	0.74099	CCG		0.682	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		25	49	0	0	0	1	0	25	49				
MGAM	8972	broad.mit.edu	37	7	141719014	141719014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141719014C>T	ENST00000549489.2	+	4	438	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	MGAM_ENST00000475668.2_Missense_Mutation_p.R115C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	115	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGTGACCAACGTGGCTGTTG	0.433																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(343-345)Cgt>Tgt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						125.0	125.0	125.0					7																	141719014		1898	4128	6026	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141719014C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.343C>T	7.37:g.141719014C>T	ENSP00000447378:p.Arg115Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.R115C	p.R115C			O43451	MGA_HUMAN			4	397	+	Melanoma(164;0.0272)		115			P-type 1.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.343C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592910	0.66219	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;T;T	0.60672	0.17;0.17;0.17	4.85	4.85	0.62838	P-type trefoil, conserved site (1);Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.000000	0.48286	D	0.000198	T	0.81322	0.4798	M	0.93106	3.38	0.50467	D	0.999879	D	0.89917	1.0	D	0.85130	0.997	D	0.85763	0.1350	10	0.87932	D	0	.	15.847	0.78901	0.0:1.0:0.0:0.0	.	115	O43451	MGA_HUMAN	C	115	ENSP00000419372:R115C;ENSP00000447378:R115C;ENSP00000417103:R115C	ENSP00000373973:R115C	R	+	1	0	MGAM	141365483	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	3.833000	0.55790	2.682000	0.91365	0.514000	0.50259	CGT		0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			6	152	0	0	0	1	0	6	152				
VARS2	57176	broad.mit.edu	37	6	30889947	30889947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30889947C>A	ENST00000321897.5	+	19	2493	c.1861C>A	c.(1861-1863)Ctt>Att	p.L621I	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.L481I|VARS2_ENST00000541562.1_Missense_Mutation_p.L651I|VARS2_ENST00000416670.2_Missense_Mutation_p.L621I			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	621					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGCAGCGACCTTCTGCTGTT	0.622																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1861-1863)Ctt>Att		valyl-tRNA synthetase 2, mitochondrial							105.0	116.0	112.0					6																	30889947		1509	2709	4218	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30889947C>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1861C>A	6.37:g.30889947C>A	ENSP00000316092:p.Leu621Ile					VARS2_ENST00000416670.2_Missense_Mutation_p.L621I|VARS2_ENST00000541562.1_Missense_Mutation_p.L651I|VARS2_ENST00000542001.1_Missense_Mutation_p.L481I|VARS2_ENST00000476162.1_3'UTR	p.L621I			Q5ST30	SYVM_HUMAN			19	2493	+			621					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1861C>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	6.507	0.461783	0.12342	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.14	5.14	0.70334	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.123820	0.53938	D	0.000055	T	0.01454	0.0047	N	0.00230	-1.795	0.39336	D	0.965496	B;B;B	0.32101	0.188;0.156;0.356	B;B;B	0.34489	0.184;0.116;0.054	T	0.43491	-0.9388	10	0.02654	T	1	-25.4723	9.5053	0.39042	0.0:0.9067:0.0:0.0933	.	619;651;621	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	I	621;621;481;651	ENSP00000316092:L621I;ENSP00000394802:L621I;ENSP00000438200:L481I;ENSP00000441000:L651I	ENSP00000316092:L621I	L	+	1	0	VARS2	30997926	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.565000	0.45939	2.686000	0.91538	0.561000	0.74099	CTT		0.622	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		17	126	1	0	2.35188e-11	1	2.93101e-11	17	126				
ADH6	130	broad.mit.edu	37	4	100131373	100131373	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131373T>A	ENST00000237653.7	-	5	817	c.433A>T	c.(433-435)Agc>Tgc	p.S145C	ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.S145C|ADH6_ENST00000394899.2_Missense_Mutation_p.S145C|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	145					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CAGAAGGTGCTGGTATTACCA	0.398																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(433-435)Agc>Tgc		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						111.0	108.0	109.0					4																	100131373		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100131373T>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.433A>T	4.37:g.100131373T>A	ENSP00000237653:p.Ser145Cys					ADH6_ENST00000394899.2_Missense_Mutation_p.S145C|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.S145C|ADH6_ENST00000504257.1_5'UTR	p.S145C			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	5	515	-			145					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.433A>T	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524360	0.64747	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653	T;T;T	0.05081	3.5;3.5;3.5	3.93	2.75	0.32379	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.037313	0.85682	D	0.000000	T	0.34687	0.0906	H	0.97491	4.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.963	T	0.36696	-0.9737	10	0.87932	D	0	-16.5576	8.8158	0.34996	0.0:0.0943:0.0:0.9057	.	145;145;145	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	C	145	ENSP00000378358:S145C;ENSP00000378359:S145C;ENSP00000237653:S145C	ENSP00000237653:S145C	S	-	1	0	ADH6	100350396	0.999000	0.42202	0.651000	0.29564	0.816000	0.46133	3.317000	0.51968	0.654000	0.30846	0.377000	0.23210	AGC		0.398	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		6	72	0	0	0	1	0	6	72				
SLMAP	7871	broad.mit.edu	37	3	57850573	57850573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57850573G>A	ENST00000428312.1	+	11	1269	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y	SLMAP_ENST00000383718.3_Missense_Mutation_p.C392Y|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000295951.3_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	392					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTAAAGAATGCAGCAGCTTG	0.308																																						ENST00000383718.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1174-1176)tGc>tAc		sarcolemma associated protein																																				SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57850573G>A	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1175G>A	3.37:g.57850573G>A	ENSP00000398661:p.Cys392Tyr					SLMAP_ENST00000428312.1_Missense_Mutation_p.C392Y|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000295951.3_Intron	p.C392Y			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	11	1273	+			392					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1175G>A		.	.	.	.	.	.	.	.	.	.	G	0.067	-1.211052	0.01555	.	.	ENSG00000163681	ENST00000383718;ENST00000428312	T;T	0.42131	0.98;1.57	4.96	-0.198	0.13224	.	.	.	.	.	T	0.14442	0.0349	.	.	.	0.80722	D	1	B;B	0.22346	0.068;0.0	B;B	0.16289	0.015;0.0	T	0.32214	-0.9915	8	0.02654	T	1	.	4.0921	0.09973	0.5506:0.0:0.2744:0.175	.	392;392	Q14BN4;Q14BN4-6	SLMAP_HUMAN;.	Y	392	ENSP00000373224:C392Y;ENSP00000398661:C392Y	ENSP00000373224:C392Y	C	+	2	0	SLMAP	57825613	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.345000	0.44018	0.238000	0.21222	-0.252000	0.11476	TGC		0.308	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		4	7	0	0	0	1	0	4	7				
PCDH7	5099	broad.mit.edu	37	4	30725518	30725518	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:30725518G>T	ENST00000361762.2	+	1	3482	c.2474G>T	c.(2473-2475)gGg>gTg	p.G825V	PCDH7_ENST00000543491.1_Missense_Mutation_p.G825V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	825	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AATGACAGTGGGCAGCCTTCC	0.473																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2473-2475)gGg>gTg		protocadherin 7							62.0	59.0	60.0					4																	30725518		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725518G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2474G>T	4.37:g.30725518G>T	ENSP00000355243:p.Gly825Val					PCDH7_ENST00000543491.1_Missense_Mutation_p.G825V	p.G825V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3482	+			825			Cadherin 7.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2474G>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.63|17.63	3.437608|3.437608	0.62955|0.62955	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.49720|.	0.77;0.77|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.87172|0.87172	0.6111|0.6111	H|H	0.94808|0.94808	3.585|3.585	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.90768|0.90768	0.4670|0.4670	9|5	0.87932|.	D|.	0|.	.|.	18.3985|18.3985	0.90507|0.90507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	825;778;825|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	V|C	825;825;778|514	ENSP00000355243:G825V;ENSP00000441802:G825V|.	ENSP00000330302:G778V|.	G|W	+|+	2|3	0|0	PCDH7|PCDH7	30334616|30334616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.473	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		6	19	1	0	0.00116845	1	0.00124821	6	19				
KRT73	319101	broad.mit.edu	37	12	53005048	53005048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53005048G>A	ENST00000305748.3	-	6	1084	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	350	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.I350I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCTGAGATCTCATTTT	0.527																																						ENST00000305748.3																			1	Substitution - coding silent(1)	p.I350I(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1048-1050)atC>atT		keratin 73							165.0	139.0	148.0					12																	53005048		2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53005048G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1050C>T	12.37:g.53005048G>A						RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	p.I350I	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1084	-			350			Coil 2.|Rod.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.1050C>T	CCDS8834.1																																																																																				0.527	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		25	49	0	0	0	1	0	25	49				
NFIA	4774	broad.mit.edu	37	1	61848933	61848933	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:61848933A>C	ENST00000403491.3	+	7	1455	c.971A>C	c.(970-972)aAg>aCg	p.K324T	NFIA_ENST00000371189.4_Missense_Mutation_p.K369T|NFIA_ENST00000371185.2_Missense_Mutation_p.K302T|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.K324T|NFIA_ENST00000407417.3_Missense_Mutation_p.K316T|NFIA_ENST00000371184.2_Missense_Mutation_p.K195T|NFIA_ENST00000371191.1_Missense_Mutation_p.K347T	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	324					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACCACACTGAAGAAGTCGGAG	0.483																																						ENST00000403491.3																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.(970-972)aAg>aCg		nuclear factor I/A							159.0	146.0	150.0					1																	61848933		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61848933A>C	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.971A>C	1.37:g.61848933A>C	ENSP00000384523:p.Lys324Thr					NFIA_ENST00000371184.2_Missense_Mutation_p.K195T|NFIA_ENST00000371189.4_Missense_Mutation_p.K369T|NFIA_ENST00000407417.3_Missense_Mutation_p.K316T|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000371191.1_Missense_Mutation_p.K347T|NFIA_ENST00000371185.2_Missense_Mutation_p.K302T|NFIA_ENST00000371187.3_Missense_Mutation_p.K324T|NFIA_ENST00000479364.1_3'UTR	p.K324T	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN			7	1455	+			324					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.971A>C	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434514	0.83776	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	L	0.45137	1.4	0.51233	D	0.999912	D;P;P;P	0.61080	0.989;0.807;0.807;0.769	D;P;D;P	0.72982	0.979;0.728;0.932;0.607	T	0.52343	-0.8588	10	0.16420	T	0.52	-19.4145	16.3245	0.82970	1.0:0.0:0.0:0.0	.	369;347;324;324	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	T	347;316;369;324;324;302;195	ENSP00000360233:K347T;ENSP00000384680:K316T;ENSP00000360231:K369T;ENSP00000384523:K324T;ENSP00000360227:K302T;ENSP00000360226:K195T	ENSP00000360226:K195T	K	+	2	0	NFIA	61621521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.254000	0.74563	0.460000	0.39030	AAG		0.483	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		35	80	0	0	0	1	0	35	80				
SOWAHB	345079	broad.mit.edu	37	4	77817433	77817433	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77817433G>A	ENST00000334306.2	-	1	1569	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	524																	GGTGGGCGCCGACTTCTTTTC	0.547																																						ENST00000334306.2																			0											c.(1570-1572)Cgg>Tgg		sosondowah ankyrin repeat domain family member B							39.0	42.0	41.0					4																	77817433		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817433G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1570C>T	4.37:g.77817433G>A	ENSP00000334879:p.Arg524Trp						p.R524W	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1569	-			524					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1570C>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956478	0.34565	.	.	ENSG00000186212	ENST00000334306	T	0.15834	2.39	5.04	3.28	0.37604	.	0.917844	0.09050	U	0.855902	T	0.31263	0.0791	L	0.29908	0.895	0.09310	N	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.32640	-0.9899	10	0.72032	D	0.01	-15.4789	12.1233	0.53903	0.0:0.0:0.5526:0.4474	.	524	A6NEL2	ANR56_HUMAN	W	524	ENSP00000334879:R524W	ENSP00000334879:R524W	R	-	1	2	ANKRD56	78036457	0.102000	0.21896	0.619000	0.29118	0.105000	0.19272	0.585000	0.23879	0.663000	0.31027	0.650000	0.86243	CGG		0.547	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		20	21	0	0	0	1	0	20	21				
PLD1	5337	broad.mit.edu	37	3	171330140	171330140	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171330140A>G	ENST00000351298.4	-	25	2937	c.2811T>C	c.(2809-2811)gtT>gtC	p.V937V	PLD1_ENST00000356327.5_Silent_p.V899V|PLD1_ENST00000340989.4_Silent_p.V937V|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	937					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACTGAAGGAACAGTCTCTG	0.498																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2695-2697)gtT>gtC		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						152.0	129.0	136.0					3																	171330140		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171330140A>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2811T>C	3.37:g.171330140A>G						PLD1_ENST00000340989.4_Silent_p.V937V|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Silent_p.V937V	p.V899V	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	2767	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		937			Catalytic.|PLD phosphodiesterase 2.			Silent	SNP	ENST00000351298.4	37	c.2697T>C	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	A	4.753	0.140028	0.09083	.	.	ENSG00000075651	ENST00000446289	.	.	.	5.57	1.72	0.24424	.	.	.	.	.	T	0.52837	0.1759	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	-9.3536	5.5401	0.17033	0.357:0.26:0.383:0.0	.	.	.	.	S	200	.	.	F	-	2	0	PLD1	172812834	0.492000	0.26027	0.528000	0.27938	0.368000	0.29767	-0.186000	0.09670	0.021000	0.15133	-0.248000	0.11899	TTC		0.498	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		3	46	0	0	0	1	0	3	46				
OR11H12	440153	broad.mit.edu	37	14	19378537	19378537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19378537C>T	ENST00000550708.1	+	1	1016	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAAAGGCAGCCCTGAGGAAA	0.393																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(943-945)gCc>gTc		olfactory receptor, family 11, subfamily H, member 12							20.0	20.0	20.0					14																	19378537		1815	3869	5684	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378537C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.944C>T	14.37:g.19378537C>T	ENSP00000449002:p.Ala315Val						p.A315V	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	1016	+	all_cancers(95;0.00108)		315						Missense_Mutation	SNP	ENST00000550708.1	37	c.944C>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	11.96	1.794156	0.31777	.	.	ENSG00000257115	ENST00000550708	T	0.44881	0.91	0.585	0.585	0.17428	.	0.000000	0.40222	U	0.001150	T	0.54334	0.1852	M	0.87038	2.855	0.23933	N	0.996424	D	0.61080	0.989	P	0.54026	0.74	T	0.66516	-0.5904	9	0.72032	D	0.01	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	315	B2RN74	O11HC_HUMAN	V	315	ENSP00000449002:A315V	ENSP00000449002:A315V	A	+	2	0	CR383656.1	18448537	0.001000	0.12720	0.922000	0.36590	0.270000	0.26580	0.576000	0.23744	0.619000	0.30197	0.064000	0.15345	GCC		0.393	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		36	69	0	0	0	1	0	36	69				
BAGE2	85319	broad.mit.edu	37	21	11038962	11038962	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038962C>T	ENST00000470054.1	-	0	1241							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGATGACTCTGTCTCAGAT	0.413																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038962C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038962C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1241	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.413	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		31	467	0	0	0	1	0	31	467				
SEMA6B	10501	broad.mit.edu	37	19	4550817	4550817	+	Missense_Mutation	SNP	C	C	T	rs201405709		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4550817C>T	ENST00000586582.1	-	11	1425	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SEMA6B_ENST00000586965.1_Missense_Mutation_p.R372Q|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R372Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	372	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCGGGGTCGAGGCACCTG	0.627																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1114-1116)cGa>cAa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							37.0	40.0	39.0					19																	4550817		2203	4299	6502	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550817C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1115G>A	19.37:g.4550817C>T	ENSP00000467290:p.Arg372Gln					SEMA6B_ENST00000586965.1_Missense_Mutation_p.R372Q|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R372Q	p.R372Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1425	-		Hepatocellular(1079;0.137)	372			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1115G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	19.87	3.907382	0.72868	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.09630	2.96	3.61	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.227351	0.35466	U	0.003182	T	0.10121	0.0248	N	0.20986	0.625	0.25417	N	0.988304	B;D	0.57257	0.381;0.979	B;P	0.50537	0.066;0.643	T	0.07693	-1.0759	10	0.87932	D	0	.	7.4922	0.27469	0.0:0.8129:0.0:0.1871	.	372;372	B4DT36;Q9H3T3	.;SEM6B_HUMAN	Q	372	ENSP00000301293:R372Q	ENSP00000301292:R372Q	R	-	2	0	SEMA6B	4501817	0.959000	0.32827	0.951000	0.38953	0.932000	0.56968	1.478000	0.35442	2.039000	0.60335	0.478000	0.44815	CGA		0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		19	30	0	0	0	1	0	19	30				
EHBP1L1	254102	broad.mit.edu	37	11	65351009	65351009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65351009G>A	ENST00000309295.4	+	9	3131	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	956						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGGCCCAGGAAGCAGAGAT	0.542																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2866-2868)Gaa>Aaa		EH domain binding protein 1-like 1							23.0	25.0	25.0					11																	65351009		1835	4082	5917	SO:0001583	missense	254102							g.chr11:65351009G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2866G>A	11.37:g.65351009G>A	ENSP00000312671:p.Glu956Lys						p.E956K	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	3131	+			956					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.2866G>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569645	0.45798	.	.	ENSG00000173442	ENST00000309295	T	0.64991	-0.13	5.19	2.14	0.27477	.	0.552940	0.15209	N	0.274563	T	0.43077	0.1231	N	0.24115	0.695	0.09310	N	0.999999	B	0.12013	0.005	B	0.15870	0.014	T	0.25502	-1.0130	10	0.37606	T	0.19	.	5.8498	0.18685	0.1664:0.2978:0.5357:0.0	.	956	Q8N3D4	EH1L1_HUMAN	K	956	ENSP00000312671:E956K	ENSP00000312671:E956K	E	+	1	0	EHBP1L1	65107585	0.000000	0.05858	0.231000	0.23993	0.537000	0.34900	0.126000	0.15769	0.156000	0.19299	0.436000	0.28706	GAA		0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		11	25	0	0	0	1	0	11	25				
LRRN4	164312	broad.mit.edu	37	20	6022650	6022650	+	Missense_Mutation	SNP	G	G	A	rs372289675		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022650G>A	ENST00000378858.4	-	5	1465	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	414					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TATCGTGCGAGAGCCCACGTT	0.672																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1240-1242)tCt>tTt		leucine rich repeat neuronal 4		G	PHE/SER	2,4404	4.2+/-10.8	0,2,2201	58.0	55.0	56.0		1241	3.0	0.0	20		56	0,8600		0,0,4300	no	missense	LRRN4	NM_152611.3	155	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	414/741	6022650	2,13004	2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022650G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1241C>T	20.37:g.6022650G>A	ENSP00000368135:p.Ser414Phe						p.S414F	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1465	-			414					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1241C>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925201	0.52759	4.54E-4	0.0	ENSG00000125872	ENST00000378858	T	0.59772	0.24	4.01	2.97	0.34412	.	1.510590	0.04594	N	0.397300	T	0.54615	0.1869	L	0.29908	0.895	0.09310	N	1	D	0.56521	0.976	P	0.47744	0.556	T	0.52275	-0.8597	10	0.56958	D	0.05	-5.4802	10.4477	0.44503	0.0:0.0:0.8058:0.1942	.	414	Q8WUT4	LRRN4_HUMAN	F	414	ENSP00000368135:S414F	ENSP00000368135:S414F	S	-	2	0	LRRN4	5970650	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.588000	0.36633	2.210000	0.71456	0.561000	0.74099	TCT		0.672	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		21	31	0	0	0	1	0	21	31				
SLMAP	7871	broad.mit.edu	37	3	57894828	57894828	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57894828C>A	ENST00000428312.1	+	17	1693	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	SLMAP_ENST00000449503.2_Silent_p.A495A|SLMAP_ENST00000416870.1_Silent_p.A26A|SLMAP_ENST00000495364.1_Silent_p.A67A|SLMAP_ENST00000494088.1_Silent_p.A26A|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000295952.3_Silent_p.A516A|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000295951.3_Silent_p.A516A			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	533					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAAGAAAAGCCTATCGAAATC	0.333																																						ENST00000295951.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1546-1548)gcC>gcA		sarcolemma associated protein							94.0	104.0	101.0					3																	57894828		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57894828C>A	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1599C>A	3.37:g.57894828C>A						SLMAP_ENST00000428312.1_Silent_p.A533A|SLMAP_ENST00000416870.1_Silent_p.A26A|SLMAP_ENST00000449503.2_Silent_p.A495A|SLMAP_ENST00000295952.3_Silent_p.A516A|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000494088.1_Silent_p.A26A|SLMAP_ENST00000495364.1_Silent_p.A67A|SLMAP_ENST00000472546.1_Intron	p.A516A			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	17	2765	+			533					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.1548C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.914|8.914	0.959433|0.959433	0.18507|0.18507	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128	.|.	.|.	.|.	5.15|5.15	3.33|3.33	0.38152|0.38152	.|.	.|.	.|.	.|.	.|.	T|T	0.55033|0.55033	0.1895|0.1895	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50651|0.50651	-0.8803|-0.8803	4|4	.|.	.|.	.|.	-0.487|-0.487	6.3807|6.3807	0.21533|0.21533	0.2774:0.5833:0.0:0.1393|0.2774:0.5833:0.0:0.1393	.|.	.|.	.|.	.|.	I|H	141;71|117	.|.	.|.	L|P	+|+	1|2	2|0	SLMAP|SLMAP	57869868|57869868	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	0.241000|0.241000	0.18065|0.18065	1.175000|1.175000	0.42826|0.42826	-0.238000|-0.238000	0.12139|0.12139	CTA|CCT		0.333	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		5	76	1	0	0.184627	1	0.186383	5	76				
TULP3	7289	broad.mit.edu	37	12	3047393	3047393	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3047393C>T	ENST00000448120.2	+	10	1188	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	TULP3_ENST00000397132.2_Silent_p.F379F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	379					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCTCAACTTCCGTGGCCGGG	0.532																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1135-1137)ttC>ttT		tubby like protein 3							112.0	107.0	109.0					12																	3047393		2203	4300	6503	SO:0001819	synonymous_variant	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3047393C>T	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1137C>T	12.37:g.3047393C>T						TULP3_ENST00000397132.2_Silent_p.F379F	p.F379F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		10	1188	+			379					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Silent	SNP	ENST00000448120.2	37	c.1137C>T	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	c	7.330	0.618657	0.14129	.	.	ENSG00000078246	ENST00000541678;ENST00000538704	.	.	.	5.2	-1.28	0.09318	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55055	-0.8200	4	.	.	.	-5.1885	11.9396	0.52892	0.0:0.6595:0.0:0.3405	.	.	.	.	S	56;45	.	.	P	+	1	0	TULP3	2917654	1.000000	0.71417	0.964000	0.40570	0.593000	0.36681	0.959000	0.29240	-0.300000	0.08895	-1.088000	0.02184	CCG		0.532	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		27	38	0	0	0	1	0	27	38				
TBC1D10C	374403	broad.mit.edu	37	11	67176496	67176496	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67176496G>A	ENST00000542590.1	+	8	899	c.885G>A	c.(883-885)gcG>gcA	p.A295A	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.A231T|TBC1D10C_ENST00000312390.5_Silent_p.A295A			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	295					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCGCCTGGCGCTGGGCACTG	0.692																																						ENST00000526387.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(691-693)Gct>Act		TBC1 domain family, member 10C							14.0	14.0	14.0					11																	67176496		2181	4274	6455	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67176496G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.885G>A	11.37:g.67176496G>A						TBC1D10C_ENST00000312390.5_Silent_p.A295A|TBC1D10C_ENST00000542590.1_Silent_p.A295A	p.A231T	NM_001256508.1	NP_001243437.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		8	729	+			31			Rab-GAP TBC.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.691G>A	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414595	0.62511	.	.	ENSG00000175463	ENST00000526387	.	.	.	4.94	-9.88	0.00467	.	0.000000	0.45606	D	0.000349	T	0.43122	0.1233	.	.	.	0.80722	D	1	B	0.16396	0.017	B	0.09377	0.004	T	0.13710	-1.0499	8	0.52906	T	0.07	.	10.7348	0.46117	0.4606:0.413:0.1265:0.0	.	231	G3V1D6	.	T	231	.	ENSP00000435543:A231T	A	+	1	0	TBC1D10C	66933072	0.000000	0.05858	0.409000	0.26459	0.955000	0.61496	-2.399000	0.01050	-2.430000	0.00557	-0.367000	0.07326	GCT		0.692	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		3	3	0	0	0	1	0	3	3				
COBL	23242	broad.mit.edu	37	7	51092891	51092891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51092891G>A	ENST00000265136.7	-	12	3848	c.3683C>T	c.(3682-3684)aCg>aTg	p.T1228M	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Missense_Mutation_p.T1310M	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1228					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GAGGGTGCCCGTGCTGAACCT	0.637																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3928-3930)aCg>aTg		cordon-bleu WH2 repeat protein							71.0	67.0	68.0					7																	51092891		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51092891G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3683C>T	7.37:g.51092891G>A	ENSP00000265136:p.Thr1228Met					COBL_ENST00000265136.7_Missense_Mutation_p.T1228M	p.T1310M			O75128	COBL_HUMAN			14	4113	-	Glioma(55;0.08)		1228					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3929C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116430	0.37339	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12984	2.72;2.63;2.72;2.72	5.34	2.5	0.30297	.	0.985245	0.08231	N	0.977649	T	0.21186	0.0510	L	0.36672	1.1	0.09310	N	1	P;P;D;D;D	0.69078	0.625;0.625;0.971;0.994;0.997	B;B;B;P;P	0.57960	0.08;0.08;0.395;0.634;0.83	T	0.19160	-1.0314	10	0.66056	D	0.02	.	6.5218	0.22279	0.1417:0.0:0.7105:0.1478	.	1181;1238;1228;1310;770	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	M	1228;1073;1113;1310	ENSP00000265136:T1228M;ENSP00000401204:T1073M;ENSP00000413498:T1113M;ENSP00000378912:T1310M	ENSP00000265136:T1228M	T	-	2	0	COBL	51060385	0.007000	0.16637	0.001000	0.08648	0.014000	0.08584	1.583000	0.36579	0.220000	0.20860	0.650000	0.86243	ACG		0.637	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		4	68	0	0	0	1	0	4	68				
TMEM131	23505	broad.mit.edu	37	2	98383045	98383045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98383045G>T	ENST00000186436.5	-	34	4697	c.4469C>A	c.(4468-4470)aCt>aAt	p.T1490N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1490						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGGAGTATATGGTAG	0.383																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(4468-4470)aCt>aAt		transmembrane protein 131							153.0	147.0	149.0					2																	98383045		1847	4090	5937	SO:0001583	missense	23505					integral to membrane		g.chr2:98383045G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4469C>A	2.37:g.98383045G>T	ENSP00000186436:p.Thr1490Asn						p.T1490N	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			34	4697	-			1490						Missense_Mutation	SNP	ENST00000186436.5	37	c.4469C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206021	0.39003	.	.	ENSG00000075568	ENST00000186436	T	0.20200	2.09	5.55	4.68	0.58851	.	0.283632	0.40640	N	0.001053	T	0.23289	0.0563	L	0.59436	1.845	0.80722	D	1	B	0.27498	0.18	B	0.24155	0.051	T	0.02411	-1.1163	10	0.45353	T	0.12	-7.7301	14.2401	0.65952	0.0717:0.0:0.9283:0.0	.	1490	Q92545	TM131_HUMAN	N	1490	ENSP00000186436:T1490N	ENSP00000186436:T1490N	T	-	2	0	TMEM131	97749477	1.000000	0.71417	0.008000	0.14137	0.437000	0.31866	5.829000	0.69316	1.341000	0.45600	0.637000	0.83480	ACT		0.383	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		11	123	1	0	4.36969e-10	1	5.35656e-10	11	123				
TRRAP	8295	broad.mit.edu	37	7	98524833	98524833	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98524833T>C	ENST00000359863.4	+	23	3228	c.3019T>C	c.(3019-3021)Tac>Cac	p.Y1007H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Y1006H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Y1007H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1007					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCACATCGCTACAAAGCCCA	0.542																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3019-3021)Tac>Cac		transformation/transcription domain-associated protein							93.0	84.0	87.0					7																	98524833		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98524833T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3019T>C	7.37:g.98524833T>C	ENSP00000352925:p.Tyr1007His					TRRAP_ENST00000355540.3_Missense_Mutation_p.Y1007H|TRRAP_ENST00000446306.3_Missense_Mutation_p.Y1006H	p.Y1007H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	3228	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1007					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3019T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529058	0.64860	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03004	4.08;4.08	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	L	0.35341	1.055	0.80722	D	1	P;B;B	0.36789	0.57;0.299;0.156	B;B;B	0.30646	0.118;0.055;0.035	T	0.58819	-0.7569	10	0.20519	T	0.43	.	15.6118	0.76727	0.0:0.0:0.0:1.0	.	1007;721;1007	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	H	1007;1007;1005	ENSP00000352925:Y1007H;ENSP00000347733:Y1007H	ENSP00000347733:Y1007H	Y	+	1	0	TRRAP	98362769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.100000	0.63781	0.477000	0.44152	TAC		0.542	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		8	63	0	0	0	1	0	8	63				
GRM8	2918	broad.mit.edu	37	7	126173388	126173388	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173388G>T	ENST00000339582.2	-	9	2856	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	GRM8_ENST00000444921.2_Missense_Mutation_p.S683Y|GRM8_ENST00000358373.3_Missense_Mutation_p.S683Y|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	683					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CGCTGTGACAGATTTCTTCCC	0.502										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2047-2049)tCt>tAt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						95.0	84.0	88.0					7																	126173388		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173388G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2048C>A	7.37:g.126173388G>T	ENSP00000344173:p.Ser683Tyr	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.S683Y|GRM8_ENST00000358373.3_Missense_Mutation_p.S683Y|GRM8_ENST00000480995.1_5'UTR	p.S683Y			O00222	GRM8_HUMAN			9	2856	-		Prostate(267;0.186)	683					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2048C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152986	0.78001	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89050	-2.46;-2.46;-2.46	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.112837	0.64402	D	0.000008	D	0.95079	0.8406	M	0.87682	2.9	0.80722	D	1	D;D	0.61080	0.974;0.989	P;D	0.64877	0.748;0.93	D	0.95298	0.8401	10	0.87932	D	0	.	19.0835	0.93192	0.0:0.0:1.0:0.0	.	683;683	O00222-2;O00222	.;GRM8_HUMAN	Y	683	ENSP00000344173:S683Y;ENSP00000409790:S683Y;ENSP00000351142:S683Y	ENSP00000344173:S683Y	S	-	2	0	GRM8	125960624	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	TCT		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			27	52	1	0	6.38683e-12	1	7.9998e-12	27	52				
CD300C	10871	broad.mit.edu	37	17	72540830	72540830	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72540830G>A	ENST00000330793.1	-	2	678	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	106	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACCAGTAGGTGCCTGCGTCCT	0.572																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(316-318)ggC>ggT		CD300c molecule							187.0	149.0	162.0					17																	72540830		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72540830G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.318C>T	17.37:g.72540830G>A							p.G106G	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			2	678	-			106			Ig-like V-type.			Silent	SNP	ENST00000330793.1	37	c.318C>T	CCDS11701.1																																																																																				0.572	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		23	39	0	0	0	1	0	23	39				
SYNJ2BP	55333	broad.mit.edu	37	14	70842480	70842480	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70842480G>T	ENST00000256366.4	-	3	291	c.210C>A	c.(208-210)ggC>ggA	p.G70G	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	70	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		TTAGGTCTTGGCCATTTACCT	0.413																																						ENST00000256366.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(208-210)ggC>ggA		synaptojanin 2 binding protein							158.0	143.0	148.0					14																	70842480		2203	4300	6503	SO:0001819	synonymous_variant	55333							g.chr14:70842480G>T	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.210C>A	14.37:g.70842480G>T						RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	p.G70G	NM_018373.2	NP_060843.2				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	3	291	-								Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	c.210C>A	CCDS9803.1																																																																																				0.413	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		34	66	1	0	7.11191e-15	1	9.09819e-15	34	66				
ABCG1	9619	broad.mit.edu	37	21	43711733	43711733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43711733C>T	ENST00000361802.2	+	13	1801	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	ABCG1_ENST00000398437.1_Silent_p.G698G|ABCG1_ENST00000343687.3_Silent_p.G551G|ABCG1_ENST00000340588.4_Silent_p.G660G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.G540G|ABCG1_ENST00000347800.2_Silent_p.G537G|ABCG1_ENST00000398457.2_Silent_p.G542G	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	552	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCCCTGGGCCTGCTGATCG	0.667																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(2092-2094)ggC>ggT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						47.0	40.0	42.0					21																	43711733		2203	4299	6502	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43711733C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1656C>T	21.37:g.43711733C>T						ABCG1_ENST00000398449.3_Silent_p.G540G|ABCG1_ENST00000347800.2_Silent_p.G537G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.G542G|ABCG1_ENST00000361802.2_Silent_p.G552G|ABCG1_ENST00000343687.3_Silent_p.G551G|ABCG1_ENST00000340588.4_Silent_p.G660G	p.G698G			P45844	ABCG1_HUMAN			14	2242	+			552					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.2094C>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	8.718	0.913658	0.17907	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.12	-1.28	0.09318	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28202	-1.0051	4	.	.	.	-29.8928	0.303	0.00276	0.2195:0.2721:0.22:0.2883	.	.	.	.	S	288;276;276	.	.	P	+	1	0	ABCG1	42584802	0.114000	0.22134	0.995000	0.50966	0.841000	0.47740	-0.737000	0.04877	-0.254000	0.09500	0.591000	0.81541	CCT		0.667	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		10	20	0	0	0	1	0	10	20				
RTEL1	51750	broad.mit.edu	37	20	62303918	62303918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62303918G>A	ENST00000360203.5	+	9	1034	c.709G>A	c.(709-711)Gca>Aca	p.A237T	RTEL1_ENST00000370018.3_Missense_Mutation_p.A237T|RTEL1_ENST00000508582.2_Missense_Mutation_p.A261T|RTEL1_ENST00000318100.4_Missense_Mutation_p.A237T|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A237T					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGCCGCAGAGCACACAACAT	0.562																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(709-711)Gca>Aca		regulator of telomere elongation helicase 1							83.0	61.0	68.0					20																	62303918		2203	4298	6501	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62303918G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.709G>A	20.37:g.62303918G>A	ENSP00000353332:p.Ala237Thr					RTEL1_ENST00000508582.2_Missense_Mutation_p.A261T|RTEL1_ENST00000360203.5_Missense_Mutation_p.A237T|RTEL1_ENST00000370018.3_Missense_Mutation_p.A237T|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A237T	p.A237T			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		9	1536	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		237			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000360203.5	37	c.709G>A		.	.	.	.	.	.	.	.	.	.	g	19.36	3.812553	0.70912	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	T;T;T;T;T	0.71461	0.98;0.98;-0.53;0.98;-0.57	4.44	4.44	0.53790	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.058001	0.64402	D	0.000002	T	0.81123	0.4757	M	0.66297	2.02	0.58432	D	0.999994	D;P;P;P	0.76494	0.999;0.594;0.771;0.544	D;P;P;P	0.78314	0.991;0.57;0.753;0.537	T	0.77558	-0.2543	10	0.16420	T	0.52	-10.6646	17.0938	0.86628	0.0:0.0:1.0:0.0	.	261;261;237;237	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	T	237;237;261;237;287	ENSP00000359035:A237T;ENSP00000322287:A237T;ENSP00000424307:A261T;ENSP00000353332:A237T;ENSP00000349265:A287T	ENSP00000349265:A287T	A	+	1	0	AL353715.1	61774362	1.000000	0.71417	0.364000	0.25888	0.023000	0.10783	5.160000	0.64929	2.189000	0.69895	0.645000	0.84053	GCA		0.562	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	4	0	0	0	1	0	3	4				
GAB3	139716	broad.mit.edu	37	X	153941611	153941611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153941611G>T	ENST00000369575.3	-	3	495	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	GAB3_ENST00000424127.2_Missense_Mutation_p.S156Y|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	155					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCAAAGAGGAGCTGGC	0.527																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(463-465)tCt>tAt		GRB2-associated binding protein 3							126.0	110.0	116.0					X																	153941611		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153941611G>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.464C>A	X.37:g.153941611G>T	ENSP00000358588:p.Ser155Tyr					GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S156Y	p.S155Y	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			3	495	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		155					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.464C>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903918	0.52333	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.25749	1.78;2.1;2.12	4.58	4.58	0.56647	.	1.461700	0.04011	N	0.298182	T	0.48607	0.1509	M	0.71581	2.175	0.32785	N	0.501964	D;P;P	0.57257	0.979;0.911;0.911	P;B;P	0.54401	0.751;0.394;0.522	T	0.36841	-0.9731	10	0.54805	T	0.06	-17.2191	13.9246	0.63955	0.0:0.0:1.0:0.0	.	156;156;155	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	Y	155;156;156	ENSP00000358588:S155Y;ENSP00000358581:S156Y;ENSP00000399588:S156Y	ENSP00000358581:S156Y	S	-	2	0	GAB3	153594805	0.998000	0.40836	0.064000	0.19789	0.847000	0.48162	3.354000	0.52254	1.855000	0.53841	0.513000	0.50165	TCT		0.527	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		16	119	1	0	5.35267e-07	1	6.25286e-07	16	119				
VWA9	81556	broad.mit.edu	37	15	65890791	65890791	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65890791C>A	ENST00000395644.4	-	6	951	c.616G>T	c.(616-618)Gat>Tat	p.D206Y	VWA9_ENST00000567744.1_Missense_Mutation_p.D242Y|VWA9_ENST00000313182.2_Missense_Mutation_p.D206Y|VWA9_ENST00000420799.2_Missense_Mutation_p.D149Y|VWA9_ENST00000569491.1_Missense_Mutation_p.D157Y|VWA9_ENST00000431261.2_Missense_Mutation_p.D127Y|VWA9_ENST00000442903.3_Missense_Mutation_p.D170Y			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	206				D -> G (in Ref. 1; CAB66597). {ECO:0000305}.													TATGCCAAATCTATCAGTTTT	0.378																																						ENST00000395644.4																			0											c.(616-618)Gat>Tat		von Willebrand factor A domain containing 9							71.0	69.0	70.0					15																	65890791		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65890791C>A	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.616G>T	15.37:g.65890791C>A	ENSP00000379006:p.Asp206Tyr					VWA9_ENST00000420799.2_Missense_Mutation_p.D149Y|VWA9_ENST00000431261.2_Missense_Mutation_p.D127Y|VWA9_ENST00000313182.2_Missense_Mutation_p.D206Y|VWA9_ENST00000567744.1_Missense_Mutation_p.D242Y|VWA9_ENST00000442903.3_Missense_Mutation_p.D170Y|VWA9_ENST00000569491.1_Missense_Mutation_p.D157Y	p.D206Y							6	951	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.616G>T		.	.	.	.	.	.	.	.	.	.	C	25.3	4.628076	0.87560	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.996;0.991	D;P;P;P	0.70935	0.971;0.878;0.862;0.77	T	0.78071	-0.2347	9	0.87932	D	0	-28.79	20.2576	0.98430	0.0:1.0:0.0:0.0	.	157;170;242;206	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	Y	206;206;127;149;170	.	ENSP00000326379:D206Y	D	-	1	0	C15orf44	63677844	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.616000	0.83018	2.783000	0.95769	0.655000	0.94253	GAT		0.378	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		4	45	1	0	0.00909568	1	0.00947522	4	45				
NUDC	10726	broad.mit.edu	37	1	27269425	27269425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269425C>T	ENST00000321265.5	+	6	733	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	204	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGACATCCAGCGGCGGCACCT	0.592																																						ENST00000321265.5																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8						c.(610-612)Cgg>Tgg		nudC nuclear distribution protein							52.0	54.0	53.0					1																	27269425		2203	4300	6503	SO:0001583	missense	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27269425C>T		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.610C>T	1.37:g.27269425C>T	ENSP00000319664:p.Arg204Trp						p.R204W	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	6	733	+			204			CS.		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	c.610C>T	CCDS292.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829186	0.90955	.	.	ENSG00000090273	ENST00000435827;ENST00000321265	T	0.58358	0.34	5.37	5.37	0.77165	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.053441	0.85682	D	0.000000	T	0.75700	0.3885	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69654	0.914;0.965	T	0.80527	-0.1343	10	0.72032	D	0.01	-1.9198	14.9427	0.71006	0.1518:0.8482:0.0:0.0	.	155;204	Q9H2R7;Q9Y266	.;NUDC_HUMAN	W	208;204	ENSP00000319664:R204W	ENSP00000319664:R204W	R	+	1	2	NUDC	27142012	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.713000	0.37951	2.542000	0.85734	0.551000	0.68910	CGG		0.592	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			8	34	0	0	0	1	0	8	34				
ADRA1A	148	broad.mit.edu	37	8	26721922	26721922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26721922C>T	ENST00000519229.1	-	1	571	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	ADRA1A_ENST00000380581.2_Missense_Mutation_p.A189T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A189T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A189T			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	259					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GAGCCCAGCGCTGAGAAGAGC	0.637																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(565-567)Gcg>Acg		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						28.0	31.0	30.0					8																	26721922		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721922C>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.565G>A	8.37:g.26721922C>T	ENSP00000430793:p.Ala189Thr					ADRA1A_ENST00000358857.5_Missense_Mutation_p.A189T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A189T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A189T	p.A189T			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1588	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	189					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.565G>A		.	.	.	.	.	.	.	.	.	.	c	13.46	2.244162	0.39697	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74283	0.3696	N	0.13272	0.32	0.58432	D	0.999995	P;P;P;P;D;P	0.89917	0.537;0.537;0.859;0.537;1.0;0.616	B;B;P;B;D;P	0.87578	0.444;0.444;0.842;0.444;0.998;0.673	T	0.79507	-0.1775	10	0.72032	D	0.01	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	189;189;189;189;189;189	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	T	189	ENSP00000369960:A189T;ENSP00000369961:A189T;ENSP00000369956:A189T;ENSP00000369955:A189T;ENSP00000430793:A189T;ENSP00000346557:A189T;ENSP00000276393:A189T;ENSP00000369947:A189T;ENSP00000369946:A189T;ENSP00000351725:A189T	ENSP00000276393:A189T	A	-	1	0	ADRA1A	26777839	0.998000	0.40836	0.820000	0.32676	0.981000	0.71138	3.771000	0.55318	2.530000	0.85305	0.558000	0.71614	GCG		0.637	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		4	17	0	0	0	1	0	4	17				
ADCK1	57143	broad.mit.edu	37	14	78365512	78365512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365512A>G	ENST00000238561.5	+	6	751	c.652A>G	c.(652-654)Aag>Gag	p.K218E	ADCK1_ENST00000341211.5_Missense_Mutation_p.K150E	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	225	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGAAGCCAAGAAGAACCTGCC	0.498																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(652-654)Aag>Gag		aarF domain containing kinase 1							172.0	149.0	157.0					14																	78365512		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78365512A>G	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.652A>G	14.37:g.78365512A>G	ENSP00000238561:p.Lys218Glu					ADCK1_ENST00000341211.5_Missense_Mutation_p.K150E	p.K218E	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	6	751	+			225			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.652A>G	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862357	0.71949	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.54675	0.94;0.56;0.94	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.50333	1.59	0.80722	D	1	P;B	0.47604	0.898;0.328	P;B	0.55391	0.775;0.155	T	0.53774	-0.8391	10	0.12766	T	0.61	-12.3581	15.6709	0.77274	1.0:0.0:0.0:0.0	.	150;218	Q9UIE6;Q86TW2-2	.;.	E	218;218;150	ENSP00000238561:K218E;ENSP00000451549:K218E;ENSP00000339663:K150E	ENSP00000238561:K218E	K	+	1	0	ADCK1	77435265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.252000	0.78309	2.099000	0.63709	0.482000	0.46254	AAG		0.498	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		8	74	0	0	0	1	0	8	74				
HECW2	57520	broad.mit.edu	37	2	197106830	197106830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197106830C>T	ENST00000260983.3	-	20	3810	c.3628G>A	c.(3628-3630)Gga>Aga	p.G1210R	HECW2_ENST00000409111.1_Missense_Mutation_p.G854R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1210					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGCCTTGTCCATATCCTTTA	0.478																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3628-3630)Gga>Aga		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							287.0	280.0	283.0					2																	197106830		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197106830C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3628G>A	2.37:g.197106830C>T	ENSP00000260983:p.Gly1210Arg					HECW2_ENST00000409111.1_Missense_Mutation_p.G854R	p.G1210R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			20	3810	-			1210					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3628G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734551	0.89482	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.88586	-2.4;-2.4	4.75	4.75	0.60458	HECT (1);	0.000000	0.85682	D	0.000000	D	0.93979	0.8072	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94550	0.7753	10	0.72032	D	0.01	.	17.9302	0.88994	0.0:1.0:0.0:0.0	.	1210	Q9P2P5	HECW2_HUMAN	R	854;1210	ENSP00000386775:G854R;ENSP00000260983:G1210R	ENSP00000260983:G1210R	G	-	1	0	HECW2	196815075	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.466000	0.83321	0.563000	0.77884	GGA		0.478	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		55	122	0	0	0	1	0	55	122				
SNRK	54861	broad.mit.edu	37	3	43389476	43389476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389476C>T	ENST00000296088.7	+	7	2029	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G	SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000437827.1_Silent_p.G369G|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Silent_p.G575G|SNRK_ENST00000429705.2_Silent_p.G575G	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGCCCCCTGGCAGTGAGGGGG	0.632																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(1723-1725)ggC>ggT		SNF related kinase							26.0	32.0	30.0					3																	43389476		1912	4101	6013	SO:0001819	synonymous_variant	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43389476C>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1725C>T	3.37:g.43389476C>T						SNRK_ENST00000454177.1_Silent_p.G575G|SNRK_ENST00000437827.1_Silent_p.G369G|SNRK_ENST00000429705.2_Silent_p.G575G	p.G575G	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	2029	+			575						Silent	SNP	ENST00000296088.7	37	c.1725C>T	CCDS43075.1																																																																																				0.632	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		5	52	0	0	0	1	0	5	52				
LIPH	200879	broad.mit.edu	37	3	185234927	185234927	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185234927C>A	ENST00000296252.4	-	7	1051	c.910G>T	c.(910-912)Gac>Tac	p.D304Y	LIPH_ENST00000424591.2_Missense_Mutation_p.D270Y	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	304					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTAGATGGTCTTTCCAATTA	0.378																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(910-912)Gac>Tac		lipase, member H							213.0	195.0	201.0					3																	185234927		2203	4300	6503	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185234927C>A	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.910G>T	3.37:g.185234927C>A	ENSP00000296252:p.Asp304Tyr					LIPH_ENST00000424591.2_Missense_Mutation_p.D270Y	p.D304Y	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		7	1051	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		304					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.910G>T	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843669	0.51164	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.90261	-2.64;-2.64	5.7	4.72	0.59763	Lipase, N-terminal (1);	0.344011	0.37530	N	0.002046	D	0.92731	0.7689	M	0.65975	2.015	0.41070	D	0.985445	D;P	0.55172	0.97;0.933	P;P	0.62740	0.827;0.906	D	0.92282	0.5834	10	0.66056	D	0.02	-8.9943	7.7009	0.28621	0.0:0.8335:0.0:0.1665	.	270;304	A2IBA6;Q8WWY8	.;LIPH_HUMAN	Y	304;270	ENSP00000296252:D304Y;ENSP00000396384:D270Y	ENSP00000296252:D304Y	D	-	1	0	LIPH	186717621	0.761000	0.28439	0.968000	0.41197	0.592000	0.36648	0.882000	0.28186	2.689000	0.91719	0.563000	0.77884	GAC		0.378	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			39	82	1	0	8.69298e-16	1	1.1177e-15	39	82				
ARL10	285598	broad.mit.edu	37	5	175793446	175793446	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793446C>T	ENST00000310389.5	+	2	343	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	83					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGTGCTGGTGCTGGGGCTGGA	0.697																																						ENST00000310389.5																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(247-249)Ctg>Ttg		ADP-ribosylation factor-like 10							55.0	62.0	59.0					5																	175793446		2203	4300	6503	SO:0001819	synonymous_variant	285598						GTP binding	g.chr5:175793446C>T	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.247C>T	5.37:g.175793446C>T							p.L83L	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	2	343	+	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	83						Silent	SNP	ENST00000310389.5	37	c.247C>T	CCDS4400.1																																																																																				0.697	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		6	12	0	0	0	1	0	6	12				
NIT2	56954	broad.mit.edu	37	3	100057992	100057992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100057992C>T	ENST00000394140.4	+	2	160	c.69C>T	c.(67-69)cgC>cgT	p.R23R		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	23	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ACGTCACTCGCGCTTGTAGCT	0.483																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(67-69)cgC>cgT		nitrilase family, member 2							170.0	168.0	169.0					3																	100057992		2203	4300	6503	SO:0001819	synonymous_variant	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100057992C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.69C>T	3.37:g.100057992C>T							p.R23R	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			2	160	+			23			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Silent	SNP	ENST00000394140.4	37	c.69C>T	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	C	9.323	1.058624	0.19987	.	.	ENSG00000114021	ENST00000497785	D	0.88896	-2.44	5.21	-1.36	0.09085	.	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79077	-0.1951	7	0.87932	D	0	-1.4064	1.4247	0.02320	0.4389:0.2528:0.1879:0.1205	.	.	.	.	C	117	ENSP00000419189:R117C	ENSP00000419189:R117C	R	+	1	0	NIT2	101540682	0.983000	0.35010	0.994000	0.49952	0.791000	0.44710	0.278000	0.18753	-0.387000	0.07809	-0.513000	0.04457	CGC		0.483	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		48	152	0	0	0	1	0	48	152				
REV3L	5980	broad.mit.edu	37	6	111695589	111695589	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695589A>T	ENST00000358835.3	-	14	4423	c.3969T>A	c.(3967-3969)gtT>gtA	p.V1323V	REV3L_ENST00000368805.1_Silent_p.V1323V|REV3L_ENST00000435970.1_Silent_p.V1245V|REV3L_ENST00000368802.3_Silent_p.V1323V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1323					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGAATTACAAACAACTGATG	0.353								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(3733-3735)gtT>gtA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							73.0	77.0	76.0					6																	111695589		2203	4298	6501	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695589A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3969T>A	6.37:g.111695589A>T						REV3L_ENST00000368805.1_Silent_p.V1323V|REV3L_ENST00000358835.3_Silent_p.V1323V|REV3L_ENST00000368802.3_Silent_p.V1323V	p.V1245V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	4551	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1323					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.3735T>A	CCDS5091.2																																																																																				0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		5	124	0	0	0	1	0	5	124				
CHD6	84181	broad.mit.edu	37	20	40141510	40141510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141510G>A	ENST00000373233.3	-	5	1004	c.827C>T	c.(826-828)gCc>gTc	p.A276V	CHD6_ENST00000373222.3_Missense_Mutation_p.A311V|CHD6_ENST00000309279.7_Missense_Mutation_p.A276V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	276	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGTGTAGAGGCTGAGAGTGC	0.502																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(826-828)gCc>gTc		chromodomain helicase DNA binding protein 6							313.0	262.0	280.0					20																	40141510		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40141510G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.827C>T	20.37:g.40141510G>A	ENSP00000362330:p.Ala276Val					CHD6_ENST00000373222.3_Missense_Mutation_p.A311V|CHD6_ENST00000309279.7_Missense_Mutation_p.A276V	p.A276V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			5	1004	-		Myeloproliferative disorder(115;0.00425)	276					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.827C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124096	0.77436	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.54866	0.55;0.55;0.55	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000016	T	0.66076	0.2753	L	0.39898	1.24	0.53688	D	0.999976	D;B	0.76494	0.999;0.23	D;B	0.73380	0.98;0.131	T	0.64871	-0.6305	10	0.46703	T	0.11	-11.8166	19.3358	0.94319	0.0:0.0:1.0:0.0	.	311;276	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	V	276;276;311	ENSP00000362330:A276V;ENSP00000308684:A276V;ENSP00000362319:A311V	ENSP00000308684:A276V	A	-	2	0	CHD6	39574924	1.000000	0.71417	0.936000	0.37596	0.940000	0.58332	9.359000	0.97115	2.578000	0.87016	0.655000	0.94253	GCC		0.502	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			67	129	0	0	0	1	0	67	129				
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1372-1374)atC>atT		topoisomerase (DNA) III alpha							128.0	120.0	123.0					17																	18194249		2203	4300	6503	SO:0001819	synonymous_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18194249G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1374C>T	17.37:g.18194249G>A						TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.I363I	p.I458I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			12	1588	-			458					A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	c.1374C>T	CCDS11194.1																																																																																				0.512	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			21	32	0	0	0	1	0	21	32				
USP39	10713	broad.mit.edu	37	2	85868167	85868167	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85868167C>A	ENST00000323701.6	+	10	1363	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	USP39_ENST00000409766.3_Silent_p.I451I|USP39_ENST00000409470.1_Silent_p.I451I|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Silent_p.I451I|USP39_ENST00000450066.2_Silent_p.I348I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	451	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATATCTAATCTTTTGTATCA	0.353																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1351-1353)atC>atA		ubiquitin specific peptidase 39							72.0	73.0	73.0					2																	85868167		2203	4300	6503	SO:0001819	synonymous_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85868167C>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1353C>A	2.37:g.85868167C>A						USP39_ENST00000409470.1_Silent_p.I451I|USP39_ENST00000409766.3_Silent_p.I451I|USP39_ENST00000409025.1_Silent_p.I451I|USP39_ENST00000450066.2_Silent_p.I348I|USP39_ENST00000459775.1_3'UTR	p.I451I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			10	1363	+			451					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Silent	SNP	ENST00000323701.6	37	c.1353C>A	CCDS33234.1																																																																																				0.353	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		25	37	1	0	3.1745e-13	1	4.02314e-13	25	37				
TTC17	55761	broad.mit.edu	37	11	43465045	43465045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43465045C>T	ENST00000039989.4	+	17	2436	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R865W	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	808					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAAGGAATACGGGTGCTGAA	0.498																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2422-2424)Cgg>Tgg		tetratricopeptide repeat domain 17							67.0	64.0	65.0					11																	43465045		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43465045C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2422C>T	11.37:g.43465045C>T	ENSP00000039989:p.Arg808Trp					TTC17_ENST00000299240.6_Missense_Mutation_p.R865W|TTC17_ENST00000526774.1_3'UTR	p.R808W	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			17	2436	+			808					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2422C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151480	0.78001	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.56444	0.78;0.46	5.63	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	L	0.32530	0.975	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.996	T	0.65915	-0.6052	10	0.62326	D	0.03	-17.2044	14.9214	0.70841	0.2602:0.7398:0.0:0.0	.	865;808;865	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	W	865;808	ENSP00000299240:R865W;ENSP00000039989:R808W	ENSP00000039989:R808W	R	+	1	2	TTC17	43421621	1.000000	0.71417	0.982000	0.44146	0.916000	0.54674	4.264000	0.58859	1.371000	0.46172	-0.319000	0.08680	CGG		0.498	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		25	40	0	0	0	1	0	25	40				
KLHL42	57542	broad.mit.edu	37	12	27933542	27933542	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27933542C>T	ENST00000381271.2	+	1	590	c.279C>T	c.(277-279)gaC>gaT	p.D93D	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	93					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TGGACGAGGACGAGGAGATGG	0.716																																						ENST00000381271.2																			0											c.(277-279)gaC>gaT		kelch-like family member 42							24.0	22.0	22.0					12																	27933542		2197	4290	6487	SO:0001819	synonymous_variant	57542							g.chr12:27933542C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.279C>T	12.37:g.27933542C>T						RP11-860B13.1_ENST00000545904.1_RNA	p.D93D	NM_020782.1	NP_065833.1					1	590	+								Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.279C>T	CCDS31763.1																																																																																				0.716	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		10	15	0	0	0	1	0	10	15				
IL23R	149233	broad.mit.edu	37	1	67724722	67724722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724722G>A	ENST00000347310.5	+	11	1972	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.V346M	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	601					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTGGGGATCGTGAATGAGGA	0.403																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1801-1803)Gtg>Atg		interleukin 23 receptor							71.0	71.0	71.0					1																	67724722		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724722G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1801G>A	1.37:g.67724722G>A	ENSP00000321345:p.Val601Met					IL23R_ENST00000395227.1_Missense_Mutation_p.V346M|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	p.V601M	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1972	+			601					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1801G>A	CCDS637.1	.	.	.	.	.	.	.	.	.	.	G	0.518	-0.863275	0.02590	.	.	ENSG00000162594	ENST00000347310;ENST00000395227	T;T	0.31769	1.48;1.54	5.4	-5.48	0.02592	.	0.703562	0.13759	N	0.364716	T	0.01695	0.0054	N	0.00436	-1.5	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.46148	-0.9212	10	0.27082	T	0.32	.	6.8599	0.24062	0.2821:0.2622:0.4558:0.0	.	347;236;199;346;601	Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5	.;.;.;.;IL23R_HUMAN	M	601;346	ENSP00000321345:V601M;ENSP00000378652:V346M	ENSP00000321345:V601M	V	+	1	0	IL23R	67497310	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	-0.366000	0.07563	-0.882000	0.03987	-1.052000	0.02337	GTG		0.403	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		26	60	0	0	0	1	0	26	60				
SPAG9	9043	broad.mit.edu	37	17	49067996	49067996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067996T>C	ENST00000262013.7	-	20	2640	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	SPAG9_ENST00000510283.1_Missense_Mutation_p.D654G|SPAG9_ENST00000357122.4_Missense_Mutation_p.D797G|SPAG9_ENST00000505279.1_Missense_Mutation_p.D801G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	811					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTCTGAAAGATCTTCTCCTGC	0.388																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2431-2433)gAt>gGt		sperm associated antigen 9							126.0	126.0	126.0					17																	49067996		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49067996T>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2432A>G	17.37:g.49067996T>C	ENSP00000262013:p.Asp811Gly					SPAG9_ENST00000505279.1_Missense_Mutation_p.D801G|SPAG9_ENST00000510283.1_Missense_Mutation_p.D654G|SPAG9_ENST00000357122.4_Missense_Mutation_p.D797G	p.D811G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		20	2640	-			811					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2432A>G	CCDS45740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.38|16.38	3.108416|3.108416	0.56291|0.56291	.|.	.|.	ENSG00000008294|ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445|ENST00000513906	T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93|.	5.9|5.9	5.9|5.9	0.94986|0.94986	WD40 repeat-like-containing domain (1);|.	0.270332|.	0.41194|.	D|.	0.000924|.	T|T	0.34135|0.34135	0.0887|0.0887	N|N	0.14661|0.14661	0.345|0.345	0.29496|0.29496	N|N	0.855294|0.855294	B;B;B;B;B;B|.	0.24186|.	0.099;0.004;0.002;0.002;0.008;0.002|.	B;B;B;B;B;B|.	0.20384|.	0.029;0.023;0.016;0.007;0.018;0.016|.	T|T	0.27773|0.27773	-1.0064|-1.0064	10|5	0.23302|.	T|.	0.38|.	-14.9291|-14.9291	16.3275|16.3275	0.82990|0.82990	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	797;811;801;811;797;654|.	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2|.	.;.;.;JIP4_HUMAN;.;.|.	G|V	811;568;558;348;654;801;797;409|70	ENSP00000262013:D811G;ENSP00000423165:D654G;ENSP00000426900:D801G;ENSP00000349636:D797G|.	ENSP00000262013:D811G|.	D|I	-|-	2|1	0|0	SPAG9|SPAG9	46422995|46422995	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.978000|0.978000	0.69477|0.69477	4.874000|4.874000	0.63064|0.63064	2.266000|2.266000	0.75297|0.75297	0.528000|0.528000	0.53228|0.53228	GAT|ATC		0.388	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		11	72	0	0	0	1	0	11	72				
MAGEC3	139081	broad.mit.edu	37	X	140983167	140983167	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140983167G>A	ENST00000298296.1	+	5	1022	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.S93N	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	341	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGGAAGCGTCTTAGAC	0.582																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1021-1023)aGc>aAc		melanoma antigen family C, 3							115.0	101.0	106.0					X																	140983167		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140983167G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1022G>A	X.37:g.140983167G>A	ENSP00000298296:p.Ser341Asn					MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.S93N|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	p.S341N	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			5	1022	+	Acute lymphoblastic leukemia(192;6.56e-05)		341			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1022G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	N	0.742	-0.775857	0.02951	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.40225	3.8;1.04	0.819	-0.403	0.12400	.	.	.	.	.	T	0.21631	0.0521	N	0.19112	0.55	0.09310	N	1	B	0.31931	0.347	B	0.23150	0.044	T	0.11842	-1.0571	8	0.56958	D	0.05	.	.	.	.	.	341	Q8TD91	MAGC3_HUMAN	N	341;93	ENSP00000298296:S341N;ENSP00000395092:S93N	ENSP00000298296:S341N	S	+	2	0	MAGEC3	140810833	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.047000	0.11963	-0.175000	0.10725	0.353000	0.21931	AGC		0.582	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		43	75	0	0	0	1	0	43	75				
PLIN4	729359	broad.mit.edu	37	19	4510998	4510998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510998C>T	ENST00000301286.3	-	3	2931	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	978	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTTGGTACCCATAAGCACA	0.617																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2932-2934)Ggt>Agt		perilipin 4							44.0	49.0	47.0					19																	4510998		2145	4235	6380	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4510998C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2932G>A	19.37:g.4510998C>T	ENSP00000301286:p.Gly978Ser						p.G978S	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2931	-			978			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2932G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	9.855	1.194708	0.22037	.	.	ENSG00000167676	ENST00000301286	T	0.05199	3.48	4.9	2.77	0.32553	.	0.303904	0.23208	N	0.050705	T	0.07593	0.0191	L	0.57536	1.79	0.20764	N	0.999853	B	0.17852	0.024	B	0.24269	0.052	T	0.27123	-1.0083	10	0.56958	D	0.05	-7.5842	5.4773	0.16702	0.0:0.6532:0.1638:0.183	.	978	Q96Q06	PLIN4_HUMAN	S	978	ENSP00000301286:G978S	ENSP00000301286:G978S	G	-	1	0	PLIN4	4461998	0.000000	0.05858	0.425000	0.26659	0.002000	0.02628	0.688000	0.25422	0.499000	0.27970	-0.282000	0.10007	GGT		0.617	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		10	19	0	0	0	1	0	10	19				
UBR1	197131	broad.mit.edu	37	15	43339373	43339373	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43339373A>G	ENST00000290650.4	-	14	1732	c.1654T>C	c.(1654-1656)Tgg>Cgg	p.W552R	UBR1_ENST00000382177.2_Missense_Mutation_p.W552R	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	552					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAAGCACACCACTCTTGGAAC	0.373																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1654-1656)Tgg>Cgg		ubiquitin protein ligase E3 component n-recognin 1							182.0	169.0	173.0					15																	43339373		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43339373A>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1654T>C	15.37:g.43339373A>G	ENSP00000290650:p.Trp552Arg					UBR1_ENST00000382177.2_Missense_Mutation_p.W552R	p.W552R	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	14	1732	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	552					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1654T>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049594	0.75846	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.68903	-0.36;-0.36	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.86178	2.8	0.80722	D	1	P;D	0.63880	0.865;0.993	B;P	0.58013	0.418;0.831	T	0.78814	-0.2056	10	0.25106	T	0.35	-24.5065	14.2244	0.65848	1.0:0.0:0.0:0.0	.	552;552	B4DYL2;Q8IWV7	.;UBR1_HUMAN	R	552	ENSP00000290650:W552R;ENSP00000371612:W552R	ENSP00000290650:W552R	W	-	1	0	UBR1	41126665	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.705000	0.91357	2.017000	0.59298	0.377000	0.23210	TGG		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		7	182	0	0	0	1	0	7	182				
KLHL24	54800	broad.mit.edu	37	3	183368322	183368322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183368322C>T	ENST00000454652.2	+	4	564	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	KLHL24_ENST00000476808.1_Missense_Mutation_p.R60C|KLHL24_ENST00000242810.6_Missense_Mutation_p.R60C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	60						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R60C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGAATTTCGTGATAGCCG	0.413																																						ENST00000454652.1																			1	Substitution - Missense(1)	p.R60C(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(178-180)Cgt>Tgt		kelch-like family member 24							121.0	118.0	119.0					3																	183368322		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368322C>T		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.178C>T	3.37:g.183368322C>T	ENSP00000395012:p.Arg60Cys					KLHL24_ENST00000476808.1_Missense_Mutation_p.R60C|KLHL24_ENST00000242810.6_Missense_Mutation_p.R60C	p.R60C			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	564	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		60					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.178C>T	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309684	0.81247	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000437402;ENST00000454495;ENST00000473045;ENST00000468101;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.44	5.44	0.79542	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.89384	0.3684	10	0.87932	D	0	.	19.2708	0.94008	0.0:1.0:0.0:0.0	.	60;60	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	C	60	ENSP00000242810:R60C;ENSP00000417347:R60C;ENSP00000416836:R60C;ENSP00000419120:R60C;ENSP00000420207:R60C;ENSP00000408567:R60C;ENSP00000417275:R60C;ENSP00000395012:R60C;ENSP00000418922:R60C;ENSP00000419010:R60C	ENSP00000242810:R60C	R	+	1	0	KLHL24	184851016	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.583000	0.60964	2.560000	0.86352	0.460000	0.39030	CGT		0.413	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		47	83	0	0	0	1	0	47	83				
CLEC16A	23274	broad.mit.edu	37	16	11066886	11066886	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11066886C>T	ENST00000409790.1	+	7	926	c.696C>T	c.(694-696)atC>atT	p.I232I	CLEC16A_ENST00000409552.3_Silent_p.I230I	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCATGTGATCGAACTCGATG	0.483																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(694-696)atC>atT		C-type lectin domain family 16, member A							83.0	79.0	80.0					16																	11066886		1969	4164	6133	SO:0001819	synonymous_variant	23274							g.chr16:11066886C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.696C>T	16.37:g.11066886C>T						CLEC16A_ENST00000409552.3_Silent_p.I230I	p.I232I	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			7	926	+			232						Silent	SNP	ENST00000409790.1	37	c.696C>T	CCDS45409.1																																																																																				0.483	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		11	8	0	0	0	1	0	11	8				
ABCF2	10061	broad.mit.edu	37	7	150921061	150921061	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921061C>A	ENST00000287844.2	-	4	616	c.507G>T	c.(505-507)cgG>cgT	p.R169R	ABCF2_ENST00000222388.2_Silent_p.R169R|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	169	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCATGGCCCGCTCTGTGT	0.597																																						ENST00000287844.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(505-507)cgG>cgT		ATP-binding cassette, sub-family F (GCN20), member 2							100.0	88.0	92.0					7																	150921061		2203	4300	6503	SO:0001819	synonymous_variant	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921061C>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.507G>T	7.37:g.150921061C>A						ABCF2_ENST00000222388.2_Silent_p.R169R	p.R169R	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	616	-			169			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	c.507G>T	CCDS5923.1																																																																																				0.597	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		5	70	1	0	0.00116845	1	0.00124821	5	70				
LRRN4	164312	broad.mit.edu	37	20	6031520	6031520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6031520C>T	ENST00000378858.4	-	3	989	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	255					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCAGCTGCTGCAGGTTGGGGG	0.547																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(763-765)ctG>ctA		leucine rich repeat neuronal 4							134.0	125.0	128.0					20																	6031520		2203	4300	6503	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6031520C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.765G>A	20.37:g.6031520C>T							p.L255L	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			3	989	-			255					A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.765G>A	CCDS13097.1																																																																																				0.547	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		29	44	0	0	0	1	0	29	44				
MYO1A	4640	broad.mit.edu	37	12	57432321	57432321	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57432321G>T	ENST00000442789.2	-	18	1922	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	MYO1A_ENST00000300119.3_Silent_p.S545S|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.S383S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	545	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAACAAGGACCGAAGGA	0.532																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1633-1635)tcC>tcA		myosin IA							74.0	74.0	74.0					12																	57432321		2203	4300	6503	SO:0001819	synonymous_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57432321G>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1635C>A	12.37:g.57432321G>T						MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.S383S|MYO1A_ENST00000300119.3_Silent_p.S545S	p.S545S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			18	1922	-			545			Myosin head-like.		Q9UQD7	Silent	SNP	ENST00000442789.2	37	c.1635C>A	CCDS8929.1																																																																																				0.532	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		15	48	1	0	7.93312e-07	1	9.21973e-07	15	48				
TRIM69	140691	broad.mit.edu	37	15	45059499	45059499	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45059499C>T	ENST00000559390.1	+	8	1960	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	TRIM69_ENST00000558329.1_Silent_p.S123S|TRIM69_ENST00000338264.4_Silent_p.S185S|TRIM69_ENST00000560442.1_Silent_p.S140S|TRIM69_ENST00000329464.4_Silent_p.S344S|TRIM69_ENST00000561043.1_Silent_p.S107S|TRIM69_ENST00000558173.1_Silent_p.S140S			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCCAAACCAGCGTCTGGCATG	0.468																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(418-420)agC>agT		tripartite motif containing 69							124.0	125.0	124.0					15																	45059499		2198	4298	6496	SO:0001819	synonymous_variant	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45059499C>T	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1032C>T	15.37:g.45059499C>T						TRIM69_ENST00000329464.4_Silent_p.S344S|TRIM69_ENST00000561043.1_Silent_p.S107S|TRIM69_ENST00000558329.1_Silent_p.S123S|TRIM69_ENST00000560442.1_Silent_p.S140S|TRIM69_ENST00000338264.4_Silent_p.S185S|TRIM69_ENST00000559390.1_Silent_p.S344S	p.S140S			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	5	5165	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	344			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	c.420C>T	CCDS32220.1																																																																																				0.468	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			44	58	0	0	0	1	0	44	58				
KRTAP4-5	85289	broad.mit.edu	37	17	39305720	39305720	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39305720G>A	ENST00000343246.4	-	1	334	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	100	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggacacacagcagctggggc	0.662																																						ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(298-300)tgC>tgT		keratin associated protein 4-5							19.0	25.0	23.0					17																	39305720		2163	4238	6401	SO:0001819	synonymous_variant	85289					keratin filament		g.chr17:39305720G>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.300C>T	17.37:g.39305720G>A							p.C100C	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	334	-		Breast(137;0.000496)	105			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Silent	SNP	ENST00000343246.4	37	c.300C>T	CCDS32650.1																																																																																				0.662	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			10	27	0	0	0	1	0	10	27				
LRRIQ1	84125	broad.mit.edu	37	12	85450485	85450485	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450485A>G	ENST00000393217.2	+	8	1975	c.1914A>G	c.(1912-1914)aaA>aaG	p.K638K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	638										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTATTCAAAATCCAAAGAAA	0.299																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1912-1914)aaA>aaG		leucine-rich repeats and IQ motif containing 1							45.0	48.0	47.0					12																	85450485		2202	4297	6499	SO:0001819	synonymous_variant	84125							g.chr12:85450485A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1914A>G	12.37:g.85450485A>G							p.K638K	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1975	+			638					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1914A>G	CCDS41816.1																																																																																				0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		19	26	0	0	0	1	0	19	26				
PLRG1	5356	broad.mit.edu	37	4	155463420	155463420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155463420C>T	ENST00000499023.2	-	8	732	c.606G>A	c.(604-606)ggG>ggA	p.G202G	RNU6-1285P_ENST00000363480.1_RNA|PLRG1_ENST00000393905.2_Silent_p.G202G|PLRG1_ENST00000302078.5_Silent_p.G193G	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	202					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.G202G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCAAGATGCCCACTGATAA	0.413																																						ENST00000499023.2																			1	Substitution - coding silent(1)	p.G202G(1)	endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(604-606)ggG>ggA		pleiotropic regulator 1							97.0	84.0	88.0					4																	155463420		2203	4300	6503	SO:0001819	synonymous_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155463420C>T	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.606G>A	4.37:g.155463420C>T						PLRG1_ENST00000393905.2_Silent_p.G202G|PLRG1_ENST00000302078.5_Silent_p.G193G	p.G202G	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			8	732	-	all_hematologic(180;0.215)	Renal(120;0.0854)	202					B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	37	c.606G>A	CCDS34083.1																																																																																				0.413	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		21	26	0	0	0	1	0	21	26				
WNT5B	81029	broad.mit.edu	37	12	1755144	1755144	+	Missense_Mutation	SNP	G	G	A	rs552195210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1755144G>A	ENST00000397196.2	+	5	1038	c.806G>A	c.(805-807)cGc>cAc	p.R269H	WNT5B_ENST00000310594.3_Missense_Mutation_p.R269H|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.R269H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	269					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTCAACAGCCGCTTCACCCAG	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13428	0.0		0.0	False		,,,				2504	0.0					ENST00000397196.2																			0				skin(1)	1						c.(805-807)cGc>cAc		wingless-type MMTV integration site family, member 5B							29.0	30.0	29.0					12																	1755144		2202	4298	6500	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1755144G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.806G>A	12.37:g.1755144G>A	ENSP00000380379:p.Arg269His					WNT5B_ENST00000310594.3_Missense_Mutation_p.R269H|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.R269H	p.R269H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		5	1038	+	Ovarian(42;0.107)		269					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.806G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171277	0.78452	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196	T;T;T	0.76186	-1.0;-1.0;-1.0	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	D	0.83454	0.5258	L	0.56124	1.755	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.84688	0.0721	10	0.72032	D	0.01	.	18.8196	0.92090	0.0:0.0:1.0:0.0	.	269	Q9H1J7	WNT5B_HUMAN	H	269	ENSP00000439312:R269H;ENSP00000308887:R269H;ENSP00000380379:R269H	ENSP00000308887:R269H	R	+	2	0	WNT5B	1625405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.606000	0.74159	2.673000	0.90976	0.655000	0.94253	CGC		0.706	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			8	15	0	0	0	1	0	8	15				
SLC7A13	157724	broad.mit.edu	37	8	87242328	87242328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87242328G>A	ENST00000297524.3	-	1	282	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.A60V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	60						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGATGTCATGGCCAGTATGGC	0.483																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(178-180)gCc>gTc		solute carrier family 7 (anionic amino acid transporter), member 13							80.0	73.0	75.0					8																	87242328		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242328G>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.179C>T	8.37:g.87242328G>A	ENSP00000297524:p.Ala60Val					SLC7A13_ENST00000419776.2_Missense_Mutation_p.A60V|SLC7A13_ENST00000520624.1_Intron	p.A60V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	282	-			60					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.179C>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484394	0.26598	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89810	-2.57;-2.57	3.93	3.03	0.35002	Amino acid permease domain (1);	1.105790	0.06887	N	0.803516	D	0.87873	0.6287	L	0.54908	1.71	0.09310	N	1	P;B	0.36789	0.57;0.029	B;B	0.38458	0.274;0.022	T	0.78064	-0.2350	10	0.62326	D	0.03	.	11.7006	0.51569	0.0:0.1808:0.8191:0.0	.	60;60	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	V	60	ENSP00000297524:A60V;ENSP00000410982:A60V	ENSP00000297524:A60V	A	-	2	0	SLC7A13	87311444	0.586000	0.26782	0.003000	0.11579	0.030000	0.12068	4.274000	0.58921	1.197000	0.43143	0.609000	0.83330	GCC		0.483	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		6	50	0	0	0	1	0	6	50				
ABCA5	23461	broad.mit.edu	37	17	67273863	67273863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67273863C>T	ENST00000392676.3	-	19	2577	c.2513G>A	c.(2512-2514)aGc>aAc	p.S838N	ABCA5_ENST00000392677.2_Missense_Mutation_p.S838N|ABCA5_ENST00000588877.1_Missense_Mutation_p.S838N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	838					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTCCAAAGGCTCATGGTGCT	0.373																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(2512-2514)aGc>aAc		ATP-binding cassette, sub-family A (ABC1), member 5							87.0	80.0	82.0					17																	67273863		2202	4298	6500	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67273863C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2513G>A	17.37:g.67273863C>T	ENSP00000376443:p.Ser838Asn					ABCA5_ENST00000588877.1_Missense_Mutation_p.S838N|ABCA5_ENST00000392677.2_Missense_Mutation_p.S838N	p.S838N			Q8WWZ7	ABCA5_HUMAN			19	2577	-	Breast(10;3.72e-11)		838					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2513G>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042496	0.55003	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.85702	-2.02;-2.02	5.73	3.56	0.40772	.	0.432357	0.25060	N	0.033448	T	0.69415	0.3108	N	0.14661	0.345	0.27042	N	0.963992	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.55055	-0.8200	9	.	.	.	.	8.1334	0.31039	0.0:0.5927:0.3158:0.0914	.	838;838	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	N	838	ENSP00000376444:S838N;ENSP00000376443:S838N	.	S	-	2	0	ABCA5	64785458	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	2.610000	0.46325	1.561000	0.49584	0.655000	0.94253	AGC		0.373	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		23	38	0	0	0	1	0	23	38				
LEPRE1	64175	broad.mit.edu	37	1	43224949	43224949	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224949G>T	ENST00000296388.5	-	3	782	c.731C>A	c.(730-732)gCc>gAc	p.A244D	LEPRE1_ENST00000236040.4_Missense_Mutation_p.A244D|LEPRE1_ENST00000397054.3_Missense_Mutation_p.A244D			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	244					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCGCAGAGGGCACGGCACTC	0.577																																						ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(730-732)gCc>gAc		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						110.0	100.0	103.0					1																	43224949		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43224949G>T	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.731C>A	1.37:g.43224949G>T	ENSP00000296388:p.Ala244Asp					LEPRE1_ENST00000296388.5_Missense_Mutation_p.A244D|LEPRE1_ENST00000397054.3_Missense_Mutation_p.A244D	p.A244D	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			3	771	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	244					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.731C>A	CCDS472.2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439611	0.63067	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027;ENST00000372526	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.7	5.7	0.88788	.	0.273852	0.42420	D	0.000717	T	0.65004	0.2650	M	0.83603	2.65	0.27467	N	0.952978	D;P;D	0.57899	0.976;0.947;0.981	P;P;P	0.56127	0.792;0.489;0.489	T	0.65861	-0.6065	10	0.87932	D	0	-27.4599	12.9814	0.58567	0.0:0.1624:0.8376:0.0	.	244;109;244	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	D	244;244;244;109;201	ENSP00000380245:A244D;ENSP00000236040:A244D;ENSP00000296388:A244D;ENSP00000361604:A201D	ENSP00000236040:A244D	A	-	2	0	LEPRE1	42997536	0.232000	0.23762	0.911000	0.35937	0.569000	0.35902	1.513000	0.35823	2.682000	0.91365	0.563000	0.77884	GCC		0.577	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		26	41	1	0	1.77063e-15	1	2.27219e-15	26	41				
SHKBP1	92799	broad.mit.edu	37	19	41095083	41095083	+	Splice_Site	SNP	C	C	T	rs201616547	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41095083C>T	ENST00000291842.5	+	15	1637	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Splice_Site_p.R505W	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	530					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACTGGGCAGCGGTGAGGACA	0.617													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		11520	0.001		0.0	False		,,,				2504	0.0					ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.e15+1		SH3KBP1 binding protein 1							59.0	43.0	48.0					19																	41095083		2203	4300	6503	SO:0001630	splice_region_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41095083C>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1589+1C>T	19.37:g.41095083C>T						SHKBP1_ENST00000600733.1_Splice_Site_p.R505_splice|SHKBP1_ENST00000597649.1_3'UTR	p.R530_splice	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		15	1637	+			530					Q8N2I6|Q8WY93|Q96IB8	Splice_Site	SNP	ENST00000291842.5	37	c.1589_splice	CCDS12560.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	20.7	4.034191	0.75617	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.54071	0.59	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.141330	0.46145	D	0.000303	T	0.70360	0.3215	M	0.78916	2.43	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	0.91635	0.999;0.999;0.958;0.994;0.998;0.985	T	0.73585	-0.3936	10	0.87932	D	0	-1.2869	10.4416	0.44469	0.3052:0.6948:0.0:0.0	.	408;310;453;367;530;530	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	W	530;310	ENSP00000291842:R530W	ENSP00000291842:R530W	R	+	1	2	SHKBP1	45786923	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.150000	0.50662	2.507000	0.84556	0.561000	0.74099	CGG		0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	Missense_Mutation	8	11	0	0	0	1	0	8	11				
SPATA2L	124044	broad.mit.edu	37	16	89764615	89764615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764615G>A	ENST00000289805.5	-	3	470	c.402C>T	c.(400-402)agC>agT	p.S134S	SPATA2L_ENST00000335360.7_Silent_p.S134S	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	134										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGAGCCGATGGCTGTCTCTGC	0.647																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(400-402)agC>agT		spermatogenesis associated 2-like							96.0	104.0	101.0					16																	89764615		2198	4300	6498	SO:0001819	synonymous_variant	124044							g.chr16:89764615G>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.402C>T	16.37:g.89764615G>A						SPATA2L_ENST00000335360.7_Silent_p.S134S	p.S134S	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	470	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	134					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.402C>T	CCDS10985.1																																																																																				0.647	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		33	100	0	0	0	1	0	33	100				
NOTCH1	4851	broad.mit.edu	37	9	139396309	139396309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139396309C>T	ENST00000277541.6	-	30	5604	c.5529G>A	c.(5527-5529)tgG>tgA	p.W1843*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1843					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W1844*(1)|p.W1843*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGCTGAGTCCACTGCCGGT	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Nonsense(2)	p.W1844*(1)|p.W1843*(1)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5527-5529)tgG>tgA		notch 1							29.0	35.0	33.0					9																	139396309		2087	4223	6310	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396309C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5529G>A	9.37:g.139396309C>T	ENSP00000277541:p.Trp1843*	HNSCC(8;0.001)					p.W1843*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	30	5604	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1843					Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.5529G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	46	12.694691	0.99689	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9569	0.79893	0.0:1.0:0.0:0.0	.	.	.	.	X	1843	.	ENSP00000277541:W1843X	W	-	3	0	NOTCH1	138516130	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.524000	0.81866	2.037000	0.60232	0.492000	0.49549	TGG		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	18	0	0	0	1	0	7	18				
IL17RD	54756	broad.mit.edu	37	3	57132155	57132155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57132155G>A	ENST00000296318.7	-	12	1664	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	IL17RD_ENST00000427856.2_Nonsense_Mutation_p.R502*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.R382*|IL17RD_ENST00000320057.5_Nonsense_Mutation_p.R382*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	526					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGCCCTGTCGCGTGTGCTGC	0.577																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1576-1578)Cga>Tga		interleukin 17 receptor D							75.0	65.0	69.0					3																	57132155		2203	4300	6503	SO:0001587	stop_gained	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132155G>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1576C>T	3.37:g.57132155G>A	ENSP00000296318:p.Arg526*					IL17RD_ENST00000427856.2_Nonsense_Mutation_p.R502*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.R382*|IL17RD_ENST00000320057.5_Nonsense_Mutation_p.R382*	p.R526*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1664	-			526					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Nonsense_Mutation	SNP	ENST00000296318.7	37	c.1576C>T	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	g	18.10	3.547397	0.65311	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	.	.	.	5.4	1.57	0.23409	.	1.125280	0.06548	N	0.744498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-1.3477	11.7974	0.52108	0.0:0.7662:0.1075:0.1263	.	.	.	.	X	526;382;502;382	.	ENSP00000296318:R526X	R	-	1	2	IL17RD	57107195	0.021000	0.18746	0.002000	0.10522	0.000000	0.00434	0.499000	0.22546	0.266000	0.21894	-0.825000	0.03093	CGA		0.577	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		16	18	0	0	0	1	0	16	18				
COMMD9	29099	broad.mit.edu	37	11	36296317	36296317	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36296317T>G	ENST00000263401.5	-	6	478	c.462A>C	c.(460-462)caA>caC	p.Q154H	COMMD9_ENST00000532705.1_Silent_p.R143R|COMMD9_ENST00000452374.2_Missense_Mutation_p.Q112H|LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	154	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TGGGATCTTCTTGGATCTGAA	0.537																																						ENST00000263401.5																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5						c.(460-462)caA>caC		COMM domain containing 9							123.0	103.0	110.0					11																	36296317		2202	4298	6500	SO:0001583	missense	29099							g.chr11:36296317T>G	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.462A>C	11.37:g.36296317T>G	ENSP00000263401:p.Gln154His					COMMD9_ENST00000532705.1_Silent_p.R143R|COMMD9_ENST00000452374.2_Missense_Mutation_p.Q112H	p.Q154H	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN			6	478	-	all_lung(20;0.211)	all_hematologic(20;0.107)	154			COMM.		E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	c.462A>C	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894761	0.52121	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374	T;T	0.10668	2.85;2.85	5.66	0.46	0.16684	COMM domain (1);	0.321128	0.35378	N	0.003258	T	0.23133	0.0559	M	0.78637	2.42	0.80722	D	1	D;P	0.54397	0.966;0.879	P;P	0.56398	0.735;0.797	T	0.00912	-1.1517	10	0.56958	D	0.05	-22.9765	9.1645	0.37043	0.0:0.5383:0.0:0.4617	.	112;154	Q9P000-2;Q9P000	.;COMD9_HUMAN	H	154;154;112	ENSP00000263401:Q154H;ENSP00000392510:Q112H	ENSP00000263401:Q154H	Q	-	3	2	COMMD9	36252893	0.990000	0.36364	0.993000	0.49108	0.498000	0.33706	0.117000	0.15583	-0.161000	0.10983	-1.647000	0.00761	CAA		0.537	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		8	63	0	0	0	1	0	8	63				
CTTN	2017	broad.mit.edu	37	11	70275272	70275272	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70275272G>A	ENST00000301843.8	+	14	1349	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R	CTTN_ENST00000376561.3_Silent_p.R344R|CTTN_ENST00000538675.1_Silent_p.R65R|CTTN_ENST00000346329.3_Silent_p.R344R	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	381					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAAGGAGCGGCAGGAGCAGG	0.627																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1030-1032)cgG>cgA		cortactin							41.0	49.0	46.0					11																	70275272		2200	4294	6494	SO:0001819	synonymous_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70275272G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1143G>A	11.37:g.70275272G>A						CTTN_ENST00000376561.3_Silent_p.R344R|CTTN_ENST00000538675.1_Silent_p.R65R|CTTN_ENST00000301843.8_Silent_p.R381R	p.R344R	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	13	1340	+			381					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1032G>A	CCDS41680.1																																																																																				0.627	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		5	28	0	0	0	1	0	5	28				
ZNF112	7771	broad.mit.edu	37	19	44831893	44831893	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44831893T>G	ENST00000337401.4	-	5	2523	c.2435A>C	c.(2434-2436)aAg>aCg	p.K812T	ZNF112_ENST00000536500.1_Missense_Mutation_p.K829T|ZNF112_ENST00000354340.4_Missense_Mutation_p.K806T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	812					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACTGAAACCCTTACCACACTG	0.468																																						ENST00000354340.4																			0											c.(2416-2418)aAg>aCg		zinc finger protein 112							158.0	155.0	156.0					19																	44831893		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44831893T>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2435A>C	19.37:g.44831893T>G	ENSP00000337081:p.Lys812Thr					ZNF112_ENST00000536500.1_Missense_Mutation_p.K829T|ZNF112_ENST00000337401.4_Missense_Mutation_p.K812T	p.K806T	NM_013380.3	NP_037512.3					4	2468	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2417A>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452112	0.63290	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.27890	1.64;1.64;1.64	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35585	N	0.003111	T	0.52517	0.1739	M	0.64170	1.965	0.31984	N	0.605452	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.996	T	0.63589	-0.6603	10	0.87932	D	0	-32.0884	14.0978	0.65034	0.0:0.0:0.0:1.0	.	811;829;812	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	T	812;812;806;829;811	ENSP00000337081:K812T;ENSP00000346305:K806T;ENSP00000441990:K829T	ENSP00000253426:K811T	K	-	2	0	ZNF285	49523733	0.998000	0.40836	0.965000	0.40720	0.989000	0.77384	5.828000	0.69307	2.039000	0.60335	0.460000	0.39030	AAG		0.468	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		5	109	0	0	0	1	0	5	109				
CX3CR1	1524	broad.mit.edu	37	3	39306959	39306959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39306959C>A	ENST00000541347.1	-	2	1281	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	CX3CR1_ENST00000358309.3_Missense_Mutation_p.D380Y|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D348Y|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D348Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	348					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCATCTCCATCACTCGTGTGG	0.483																																						ENST00000541347.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1042-1044)Gat>Tat		chemokine (C-X3-C motif) receptor 1							155.0	147.0	149.0					3																	39306959		1957	4162	6119	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39306959C>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.1042G>T	3.37:g.39306959C>A	ENSP00000439140:p.Asp348Tyr					CX3CR1_ENST00000542107.1_Missense_Mutation_p.D348Y|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D348Y|CX3CR1_ENST00000358309.3_Missense_Mutation_p.D380Y	p.D348Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	1281	-			348					A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.1042G>T	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805006	0.50315	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.67865	-0.25;-0.29;-0.25;-0.25	5.7	4.82	0.62117	.	0.754074	0.12986	N	0.422832	T	0.64327	0.2588	M	0.77820	2.39	0.09310	N	1	P	0.42409	0.779	B	0.34180	0.177	T	0.62586	-0.6823	10	0.87932	D	0	.	10.0053	0.41953	0.0:0.7836:0.1407:0.0757	.	348	P49238	CX3C1_HUMAN	Y	348;356;380;348;348	ENSP00000382166:D348Y;ENSP00000351059:D380Y;ENSP00000439140:D348Y;ENSP00000444928:D348Y	ENSP00000351059:D380Y	D	-	1	0	CX3CR1	39281963	0.861000	0.29849	0.983000	0.44433	0.709000	0.40893	3.692000	0.54727	1.415000	0.47037	0.655000	0.94253	GAT		0.483	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		65	126	1	0	7.48145e-19	1	9.77562e-19	65	126				
ZNF841	284371	broad.mit.edu	37	19	52569224	52569224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569224G>T	ENST00000426391.2	-	5	2114	c.1563C>A	c.(1561-1563)taC>taA	p.Y521*	ZNF841_ENST00000389534.4_Nonsense_Mutation_p.Y637*|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.Y637*|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CTAGGCATGAGTAGTAACTGA	0.433																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1909-1911)taC>taA		zinc finger protein 841							118.0	102.0	106.0					19																	52569224		692	1591	2283	SO:0001587	stop_gained	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569224G>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1563C>A	19.37:g.52569224G>T	ENSP00000415453:p.Tyr521*					ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.Y637*|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Nonsense_Mutation_p.Y521*	p.Y637*	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2370	-			521					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Nonsense_Mutation	SNP	ENST00000426391.2	37	c.1911C>A		.	.	.	.	.	.	.	.	.	.	G	42	9.497868	0.99187	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5505	0.17087	0.0:0.0:0.4759:0.5241	.	.	.	.	X	637;521	.	ENSP00000374185:Y637X	Y	-	3	2	ZNF841	57261036	0.000000	0.05858	0.001000	0.08648	0.915000	0.54546	-4.437000	0.00234	0.718000	0.32166	0.313000	0.20887	TAC		0.433	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		13	143	1	0	3.27435e-08	1	3.90559e-08	13	143				
PCDHGB7	56099	broad.mit.edu	37	5	140798177	140798177	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140798177C>A	ENST00000398594.2	+	1	751	c.751C>A	c.(751-753)Ctt>Att	p.L251I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	251	Cadherin 3. {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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTTAGCCTTCGGGAAGA	0.547																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(751-753)Ctt>Att									80.0	83.0	82.0					5																	140798177		2030	4191	6221	SO:0001583	missense	0							g.chr5:140798177C>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.751C>A	5.37:g.140798177C>A	ENSP00000381594:p.Leu251Ile					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.L251I	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	751	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.751C>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	8.968	0.972284	0.18736	.	.	ENSG00000254122	ENST00000398594	T	0.49139	0.79	5.7	2.57	0.30868	Cadherin (4);Cadherin-like (1);	0.341744	0.16168	U	0.226440	T	0.35422	0.0931	N	0.21324	0.655	0.09310	N	1	P;B	0.35982	0.531;0.174	B;B	0.39876	0.277;0.312	T	0.17018	-1.0383	10	0.37606	T	0.19	.	10.6088	0.45410	0.2934:0.516:0.1906:0.0	.	251;251	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	I	251	ENSP00000381594:L251I	ENSP00000381594:L251I	L	+	1	0	PCDHGB7	140778361	0.000000	0.05858	0.951000	0.38953	0.818000	0.46254	-2.718000	0.00813	0.733000	0.32492	0.561000	0.74099	CTT		0.547	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		28	30	1	0	1.80694e-10	1	2.22694e-10	28	30				
CASD1	64921	broad.mit.edu	37	7	94157499	94157499	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94157499G>T	ENST00000297273.4	+	5	683		c.e5-1			NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1							integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTCTTTTAGGATTTTCTGT	0.289																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.e5-1		CAS1 domain containing 1							146.0	155.0	152.0					7																	94157499		2203	4299	6502	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94157499G>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.397-1G>T	7.37:g.94157499G>T								NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	683	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)							B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Splice_Site	SNP	ENST00000297273.4	37		CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213127	0.79352	.	.	ENSG00000127995	ENST00000447923;ENST00000297273	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.162	0.89710	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASD1	93995435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.677000	0.91203	2.340000	0.79590	0.655000	0.94253	.		0.289	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	Intron	7	113	1	0	0.000673444	1	0.000724755	7	113				
KIAA1244	57221	broad.mit.edu	37	6	138584261	138584261	+	Silent	SNP	G	G	A	rs372683244	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138584261G>A	ENST00000251691.4	+	12	1807	c.1641G>A	c.(1639-1641)acG>acA	p.T547T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTAAGGAGACGCTGAGCAAAG	0.542													G|||	3	0.000599042	0.0	0.0	5008	,	,		22247	0.003		0.0	False		,,,				2504	0.0					ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1639-1641)acG>acA		KIAA1244		G		0,4406		0,0,2203	51.0	45.0	47.0		1641	-10.5	0.0	6		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1244	NM_020340.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		547/2178	138584261	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584261G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1641G>A	6.37:g.138584261G>A							p.T547T	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1807	+	Breast(32;0.135)		547						Silent	SNP	ENST00000251691.4	37	c.1641G>A	CCDS5189.2																																																																																				0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	22	0	0	0	1	0	6	22				
PCDHB7	56129	broad.mit.edu	37	5	140553826	140553826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140553826C>T	ENST00000231137.3	+	1	1584	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	470	Cadherin 5. {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)			CCCTGCCCATCGGCAGTGTCA	0.642																																						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.(1408-1410)atC>atT									109.0	109.0	109.0					5																	140553826		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.chr5:140553826C>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.1410C>T	5.37:g.140553826C>T							p.I470I	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1584	+			470			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1410C>T	CCDS4249.1																																																																																				0.642	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		25	55	0	0	0	1	0	25	55				
ZNF345	25850	broad.mit.edu	37	19	37368419	37368419	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37368419T>G	ENST00000529555.1	+	2	1475	c.687T>G	c.(685-687)ccT>ccG	p.P229P	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Silent_p.P229P|ZNF345_ENST00000420450.1_Silent_p.P229P			Q14585	ZN345_HUMAN	zinc finger protein 345	229					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCTTATGAATGCA	0.418																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(685-687)ccT>ccG		zinc finger protein 345							76.0	73.0	74.0					19																	37368419		2203	4300	6503	SO:0001819	synonymous_variant	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368419T>G	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.687T>G	19.37:g.37368419T>G						ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.P229P|ZNF345_ENST00000589046.1_Silent_p.P229P|ZNF345_ENST00000526123.1_Intron	p.P229P			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1475	+	Esophageal squamous(110;0.183)		229						Silent	SNP	ENST00000529555.1	37	c.687T>G	CCDS12497.1																																																																																				0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			28	46	0	0	0	1	0	28	46				
NLRP4	147945	broad.mit.edu	37	19	56369066	56369066	+	Missense_Mutation	SNP	G	G	A	rs574404289		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56369066G>A	ENST00000301295.6	+	3	729	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NLRP4_ENST00000346986.5_Missense_Mutation_p.A103T|NLRP4_ENST00000587891.1_Missense_Mutation_p.A28T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	103					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAGCTCACGCAAAGCAGAA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20981	0.0		0.0	False		,,,				2504	0.0					ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(307-309)Gca>Aca		NLR family, pyrin domain containing 4							95.0	89.0	91.0					19																	56369066		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369066G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.307G>A	19.37:g.56369066G>A	ENSP00000301295:p.Ala103Thr					NLRP4_ENST00000346986.5_Missense_Mutation_p.A103T|NLRP4_ENST00000587891.1_Missense_Mutation_p.A28T	p.A103T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	729	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	103					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.307G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849356	0.32699	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.73789	-0.78;-0.74	3.62	-7.19	0.01500	.	.	.	.	.	T	0.45796	0.1360	N	0.08118	0	0.09310	N	1	D;P	0.53619	0.961;0.918	B;B	0.39904	0.313;0.125	T	0.53315	-0.8456	9	0.52906	T	0.07	.	6.71	0.23272	0.667:0.0:0.1874:0.1457	.	28;103	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	T	103	ENSP00000301295:A103T;ENSP00000344787:A103T	ENSP00000301295:A103T	A	+	1	0	NLRP4	61060878	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.860000	0.04272	-1.344000	0.02216	-0.793000	0.03317	GCA		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		24	21	0	0	0	1	0	24	21				
KIF3A	11127	broad.mit.edu	37	5	132038596	132038596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132038596C>A	ENST00000378746.4	-	11	1765	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.R519I|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R543I	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	516					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAGTTCTCTGCGAAGTTG	0.383																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1546-1548)aGa>aTa		kinesin family member 3A							224.0	222.0	223.0					5																	132038596		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132038596C>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1547G>T	5.37:g.132038596C>A	ENSP00000368020:p.Arg516Ile					KIF3A_ENST00000378735.1_Missense_Mutation_p.R519I|KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R543I	p.R516I	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1765	-		all_cancers(142;0.0751)|Breast(839;0.198)	516					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1547G>T	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249910	0.39797	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.09911	2.94;2.94;2.93;2.94	6.17	1.23	0.21249	.	0.311136	0.41001	D	0.000963	T	0.12135	0.0295	L	0.60455	1.87	0.50313	D	0.999868	B;B;B;B	0.26258	0.145;0.145;0.145;0.145	B;B;B;B	0.28709	0.093;0.093;0.093;0.093	T	0.06661	-1.0814	10	0.56958	D	0.05	.	10.1665	0.42884	0.0:0.4905:0.0:0.5094	.	543;543;516;542	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	I	516;519;543;44;543	ENSP00000368020:R516I;ENSP00000368009:R519I;ENSP00000405619:R44I;ENSP00000385808:R543I	ENSP00000368009:R519I	R	-	2	0	KIF3A	132066495	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	0.724000	0.25954	-0.060000	0.13132	-0.150000	0.13652	AGA		0.383	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		16	224	1	0	5.3912e-06	1	6.15692e-06	16	224				
PODXL2	50512	broad.mit.edu	37	3	127390345	127390345	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127390345C>T	ENST00000342480.6	+	7	1533	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_5'Flank|ABTB1_ENST00000393363.3_5'Flank|ABTB1_ENST00000453791.2_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	498					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCAGCGACTACGGCACGCTCT	0.627																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1492-1494)taC>taT		podocalyxin-like 2							102.0	87.0	92.0					3																	127390345		2203	4300	6503	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127390345C>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1494C>T	3.37:g.127390345C>T							p.Y498Y	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			7	1533	+			498					Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.1494C>T	CCDS3044.1																																																																																				0.627	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		27	43	0	0	0	1	0	27	43				
MASP1	5648	broad.mit.edu	37	3	186953538	186953538	+	Intron	SNP	G	G	A	rs144758799	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186953538G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'Flank|MASP1_ENST00000392472.2_Silent_p.Y594Y|MASP1_ENST00000296280.6_Silent_p.Y707Y	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCCAGTCCACGTAATTGGAGA	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		19485	0.0		0.0	False		,,,				2504	0.0041					ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(2119-2121)taC>taT		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)		G	,	0,4406		0,0,2203	99.0	90.0	93.0		,2121	-7.5	0.8	3	dbSNP_134	93	5,8595	4.3+/-15.6	0,5,4295	no	intron,coding-synonymous	MASP1	NM_001879.5,NM_139125.3	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	,707/729	186953538	5,13001	2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186953538G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5730C>T	3.37:g.186953538G>A						MASP1_ENST00000392472.2_Silent_p.Y594Y|MASP1_ENST00000337774.5_Intron	p.Y707Y	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	2346	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		687					A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.2121C>T	CCDS33907.1																																																																																				0.597	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		5	37	0	0	0	1	0	5	37				
KCNN4	3783	broad.mit.edu	37	19	44273958	44273958	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44273958C>A	ENST00000262888.3	-	5	1238	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	281					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCACGGCCACCAGCAGGGCTG	0.592																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(841-843)ctG>ctT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						133.0	119.0	124.0					19																	44273958		2203	4300	6503	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273958C>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.843G>T	19.37:g.44273958C>A							p.L281L	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			5	1238	-		Prostate(69;0.0352)	281					Q53XR4	Silent	SNP	ENST00000262888.3	37	c.843G>T	CCDS12630.1																																																																																				0.592	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		23	45	1	0	1.9806e-07	1	2.3338e-07	23	45				
PTX4	390667	broad.mit.edu	37	16	1537523	1537523	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537523T>C	ENST00000447419.2	-	2	615	c.590A>G	c.(589-591)gAg>gGg	p.E197G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.E192G			Q96A99	PTX4_HUMAN	pentraxin 4, long	197						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCCAGCTCCTCAGGCTGGGT	0.731																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(589-591)gAg>gGg		pentraxin 4, long							10.0	12.0	11.0					16																	1537523		2180	4257	6437	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537523T>C		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.590A>G	16.37:g.1537523T>C	ENSP00000445277:p.Glu197Gly					PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.E192G	p.E197G			Q96A99	PTX4_HUMAN			2	615	-			197						Missense_Mutation	SNP	ENST00000447419.2	37	c.590A>G		.	.	.	.	.	.	.	.	.	.	T	7.465	0.645561	0.14451	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05649	3.55;3.41	4.92	-6.22	0.02058	.	10.180400	0.00166	N	0.000003	T	0.02380	0.0073	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	10	0.21014	T	0.42	.	2.2446	0.04028	0.1452:0.205:0.4264:0.2233	.	192	Q96A99-2	.	G	197;192	ENSP00000445277:E197G;ENSP00000293922:E192G	ENSP00000293922:E192G	E	-	2	0	PTX4	1477524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.966000	0.01509	-1.317000	0.02292	-1.139000	0.01908	GAG		0.731	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		10	10	0	0	0	1	0	10	10				
ARAF	369	broad.mit.edu	37	X	47422624	47422624	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47422624G>T	ENST00000377045.4	+	3	290		c.e3-1		ARAF_ENST00000377039.2_Splice_Site|ARAF_ENST00000290277.6_Splice_Site	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase						cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CATACACACAGGTGACTGTCC	0.547											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.e3-1		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						93.0	62.0	72.0					X																	47422624		2203	4300	6503	SO:0001630	splice_region_variant	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47422624G>T	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.97-1G>T	X.37:g.47422624G>T			OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946	ARAF_ENST00000377039.2_Splice_Site|ARAF_ENST00000290277.6_Splice_Site		NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			3	290	+								P07557|Q5H9B2|Q5H9B3	Splice_Site	SNP	ENST00000377045.4	37		CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813794	0.70912	.	.	ENSG00000078061	ENST00000377045;ENST00000290277;ENST00000377039	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8701	0.70450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARAF	47307568	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	8.801000	0.91905	2.094000	0.63399	0.529000	0.55759	.		0.547	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1		Intron	7	10	1	0	5.18039e-06	1	5.91835e-06	7	10				
LRP1B	53353	broad.mit.edu	37	2	142004838	142004838	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:142004838G>A	ENST00000389484.3	-	5	1520	c.549C>T	c.(547-549)ggC>ggT	p.G183G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	183	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATTAGGTAGCCTTCCACAC	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(547-549)ggC>ggT		low density lipoprotein receptor-related protein 1B							160.0	143.0	148.0					2																	142004838		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142004838G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.549C>T	2.37:g.142004838G>A		TSP Lung(27;0.18)					p.G183G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	5	1520	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	183			EGF-like 2; calcium-binding (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.549C>T	CCDS2182.1																																																																																				0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	87	0	0	0	1	0	8	87				
SESTD1	91404	broad.mit.edu	37	2	180008500	180008500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180008500C>T	ENST00000428443.3	-	9	984	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	223							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTAAATCGACGCTGCTGTAA	0.378																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(667-669)cGt>cAt		SEC14 and spectrin domains 1							97.0	97.0	97.0					2																	180008500		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180008500C>T	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.668G>A	2.37:g.180008500C>T	ENSP00000415332:p.Arg223His						p.R223H	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	984	-			223					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.668G>A	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179928	0.78564	.	.	ENSG00000187231	ENST00000428443	T	0.05319	3.46	6.07	6.07	0.98685	.	0.045321	0.85682	D	0.000000	T	0.14917	0.0360	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.15867	-1.0422	9	.	.	.	-13.2937	20.6593	0.99626	0.0:1.0:0.0:0.0	.	223	Q86VW0	SESD1_HUMAN	H	223	ENSP00000415332:R223H	.	R	-	2	0	SESTD1	179716745	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.653000	0.74382	2.885000	0.99019	0.655000	0.94253	CGT		0.378	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		28	53	0	0	0	1	0	28	53				
LEF1	51176	broad.mit.edu	37	4	109084772	109084772	+	Silent	SNP	G	G	A	rs368602047		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109084772G>A	ENST00000265165.1	-	3	1020	c.366C>T	c.(364-366)aaC>aaT	p.N122N	LEF1_ENST00000438313.2_Silent_p.N122N|LEF1_ENST00000510624.1_Silent_p.N54N|LEF1_ENST00000379951.2_Silent_p.N122N|LEF1_ENST00000512172.1_Silent_p.N54N	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	122	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGTATGGGTCGTTATTCATAT	0.428																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(364-366)aaC>aaT		lymphoid enhancer-binding factor 1		G	,,,	1,4405	2.1+/-5.4	0,1,2202	197.0	174.0	182.0		366,366,162,366	-1.5	0.0	4		182	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	122/372,122/387,54/304,122/400	109084772	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109084772G>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.366C>T	4.37:g.109084772G>A						LEF1_ENST00000510624.1_Silent_p.N54N|LEF1_ENST00000512172.1_Silent_p.N54N|LEF1_ENST00000438313.2_Silent_p.N122N|LEF1_ENST00000265165.1_Silent_p.N122N	p.N122N	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	3	1554	-			122			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	ENST00000265165.1	37	c.366C>T	CCDS3679.1																																																																																				0.428	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			41	60	0	0	0	1	0	41	60				
KIF17	57576	broad.mit.edu	37	1	21031096	21031096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031096G>T	ENST00000247986.2	-	5	1277	c.967C>A	c.(967-969)Ctc>Atc	p.L323I	KIF17_ENST00000375044.1_Missense_Mutation_p.L223I|KIF17_ENST00000400463.3_Missense_Mutation_p.L323I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	323	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGCGTGCTGAGTGTCTCATCG	0.617																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(967-969)Ctc>Atc		kinesin family member 17							173.0	130.0	144.0					1																	21031096		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031096G>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.967C>A	1.37:g.21031096G>T	ENSP00000247986:p.Leu323Ile					KIF17_ENST00000375044.1_Missense_Mutation_p.L223I|KIF17_ENST00000400463.3_Missense_Mutation_p.L323I	p.L323I			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1277	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	323					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.967C>A	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493544	0.64186	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77877	-1.13;-1.13;-1.13	5.26	5.26	0.73747	Kinesin, motor domain (3);	0.000000	0.29473	U	0.012047	T	0.81322	0.4798	L	0.31476	0.935	0.43187	D	0.995014	P;P	0.46395	0.877;0.472	D;P	0.64042	0.921;0.829	T	0.77186	-0.2680	10	0.24483	T	0.36	.	18.2248	0.89914	0.0:0.0:1.0:0.0	.	323;323	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	I	223;323;323	ENSP00000364184:L223I;ENSP00000383311:L323I;ENSP00000247986:L323I	ENSP00000247986:L323I	L	-	1	0	KIF17	20903683	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.476000	0.73587	2.631000	0.89168	0.462000	0.41574	CTC		0.617	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		7	48	1	0	0.0581538	1	0.0593651	7	48				
BAG1	573	broad.mit.edu	37	9	33256830	33256830	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33256830A>C	ENST00000379704.2	-	5	942	c.509T>G	c.(508-510)tTt>tGt	p.F170C	BAG1_ENST00000472232.3_Missense_Mutation_p.F285C|BAG1_ENST00000467389.2_5'UTR			Q99933	BAG1_HUMAN	BCL2-associated athanogene	285	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GATCTTCATAAACTGCTCTAT	0.393																																					GBM(77;1066 1502 5858 12192)	ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(853-855)tTt>tGt		BCL2-associated athanogene							169.0	150.0	157.0					9																	33256830		2203	4300	6503	SO:0001583	missense	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33256830A>C	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.509T>G	9.37:g.33256830A>C	ENSP00000369026:p.Phe170Cys					BAG1_ENST00000379704.2_Missense_Mutation_p.F170C|BAG1_ENST00000467389.2_5'UTR	p.F285C	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		5	940	-			285			BAG.|Interaction with PPP1R15A.		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	c.854T>G	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801752	0.70682	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704	D;D	0.88509	-2.39;-2.39	5.32	5.32	0.75619	BAG domain (3);	0.048935	0.85682	D	0.000000	D	0.92561	0.7637	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92023	0.5627	9	.	.	.	-12.408	13.2871	0.60249	1.0:0.0:0.0:0.0	.	214;285	Q99933-3;Q99933	.;BAG1_HUMAN	C	285;170;170	ENSP00000420514:F285C;ENSP00000369026:F170C	.	F	-	2	0	BAG1	33246830	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	8.180000	0.89694	2.238000	0.73509	0.533000	0.62120	TTT		0.393	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323		28	38	0	0	0	1	0	28	38				
TDRD1	56165	broad.mit.edu	37	10	115962043	115962043	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115962043G>A	ENST00000369280.1	+	6	1142	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TDRD1_ENST00000251864.2_Missense_Mutation_p.E228K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.E228K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E228K			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	228					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGGATGTGGAGGTAAACAA	0.274																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(682-684)Gag>Aag		tudor domain containing 1							84.0	91.0	89.0					10																	115962043		2202	4300	6502	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115962043G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.682G>A	10.37:g.115962043G>A	ENSP00000358286:p.Glu228Lys					TDRD1_ENST00000369282.1_Missense_Mutation_p.E228K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E228K|TDRD1_ENST00000369280.1_Missense_Mutation_p.E228K|TDRD1_ENST00000422662.1_5'UTR	p.E228K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	6	835	+		Colorectal(252;0.172)|Breast(234;0.188)	228					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.682G>A		.	.	.	.	.	.	.	.	.	.	G	10.82	1.458755	0.26248	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.19938	2.99;2.97;2.11;3.0	5.83	4.93	0.64822	.	0.406531	0.24957	N	0.034252	T	0.34366	0.0895	L	0.50333	1.59	0.80722	D	1	P;D;D;D	0.67145	0.952;0.996;0.971;0.988	P;P;P;P	0.60236	0.452;0.836;0.654;0.871	T	0.04551	-1.0943	10	0.52906	T	0.07	-14.5297	10.7635	0.46279	0.0869:0.0:0.9131:0.0	.	228;228;228;228	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	K	228	ENSP00000358288:E228K;ENSP00000251864:E228K;ENSP00000358287:E228K;ENSP00000358286:E228K	ENSP00000251864:E228K	E	+	1	0	TDRD1	115952033	0.999000	0.42202	0.650000	0.29550	0.094000	0.18550	2.057000	0.41365	1.473000	0.48159	0.585000	0.79938	GAG		0.274	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			15	23	0	0	0	1	0	15	23				
SLC12A2	6558	broad.mit.edu	37	5	127466839	127466839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466839G>A	ENST00000262461.2	+	5	1318	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A377T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	377					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTTTGCCAACGCTGTTGCAGT	0.398																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1129-1131)Gct>Act		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						271.0	256.0	261.0					5																	127466839		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127466839G>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1129G>A	5.37:g.127466839G>A	ENSP00000262461:p.Ala377Thr					SLC12A2_ENST00000343225.4_Missense_Mutation_p.A377T	p.A377T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	5	1318	+		all_cancers(142;0.0972)|Prostate(80;0.151)	377					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1129G>A	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286701	0.95517	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98862	-5.19;-5.19	4.93	4.93	0.64822	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.99895	1.1144	10	0.66056	D	0.02	.	18.3301	0.90265	0.0:0.0:1.0:0.0	.	377;377	P55011-3;P55011	.;S12A2_HUMAN	T	377	ENSP00000262461:A377T;ENSP00000340878:A377T	ENSP00000262461:A377T	A	+	1	0	SLC12A2	127494738	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.263000	0.95617	2.573000	0.86826	0.563000	0.77884	GCT		0.398	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		11	147	0	0	0	1	0	11	147				
KIAA0907	22889	broad.mit.edu	37	1	155899590	155899590	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155899590C>A	ENST00000368321.3	-	3	320	c.297G>T	c.(295-297)aaG>aaT	p.K99N	KIAA0907_ENST00000368320.3_Missense_Mutation_p.K99N|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K99N|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	99							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCAGGTCATCCTTGCTTTTAT	0.393																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(295-297)aaG>aaT		KIAA0907							158.0	140.0	146.0					1																	155899590		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155899590C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.297G>T	1.37:g.155899590C>A	ENSP00000357304:p.Lys99Asn					KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.K99N|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K99N	p.K99N			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		3	322	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		99					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.297G>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410363	0.62399	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	0.414	0.16406	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	N	0.20610	0.595	0.53688	D	0.999977	P;B;P;B;D;D	0.56968	0.867;0.291;0.936;0.244;0.978;0.978	P;B;P;B;P;P	0.53649	0.553;0.141;0.55;0.067;0.731;0.731	T	0.05767	-1.0865	9	0.36615	T	0.2	-13.3414	8.8202	0.35020	0.0:0.4415:0.0:0.5585	.	99;99;99;99;99;99	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	N	99	.	ENSP00000357302:K99N	K	-	3	2	KIAA0907	154166214	0.979000	0.34478	1.000000	0.80357	0.997000	0.91878	0.128000	0.15810	0.205000	0.20568	0.563000	0.77884	AAG		0.393	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		6	57	1	0	0.0381472	1	0.0390147	6	57				
ERICH1	157697	broad.mit.edu	37	8	618675	618675	+	Missense_Mutation	SNP	G	G	A	rs200277044		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:618675G>A	ENST00000262109.7	-	5	1258	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	ERICH1_ENST00000522706.1_Missense_Mutation_p.T300M	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	394										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GAGCAGCAGCGTTTTCATGTG	0.537																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(1180-1182)aCg>aTg		glutamate-rich 1		G	MET/THR	0,4406		0,0,2203	138.0	119.0	125.0		1181	2.6	0.0	8		125	5,8595	5.0+/-18.6	0,5,4295	yes	missense	ERICH1	NM_207332.1	81	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	394/444	618675	5,13001	2203	4300	6503	SO:0001583	missense	157697							g.chr8:618675G>A		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.1181C>T	8.37:g.618675G>A	ENSP00000262109:p.Thr394Met					ERICH1_ENST00000522706.1_Missense_Mutation_p.T300M	p.T394M	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	5	1258	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	394					A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.1181C>T	CCDS5955.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.329112|1.329112	0.24167|0.24167	0.0|0.0	5.81E-4|5.81E-4	ENSG00000104714|ENSG00000104714	ENST00000522893|ENST00000543819;ENST00000522706;ENST00000262109	.|T;T	.|0.42900	.|0.96;0.99	5.42|5.42	2.64|2.64	0.31445|0.31445	.|.	.|0.444046	.|0.21517	.|N	.|0.073284	T|T	0.52370|0.52370	0.1730|0.1730	L|L	0.49778|0.49778	1.585|1.585	0.09310|0.09310	N|N	1|1	.|P;D;P	.|0.89917	.|0.887;1.0;0.887	.|B;D;B	.|0.83275	.|0.295;0.996;0.295	T|T	0.38735|0.38735	-0.9647|-0.9647	5|10	.|0.87932	.|D	.|0	-4.4237|-4.4237	5.8077|5.8077	0.18450|0.18450	0.1743:0.1582:0.6675:0.0|0.1743:0.1582:0.6675:0.0	.|.	.|394;394;300	.|B4DMI5;Q86X53;E5RHA3	.|.;ERIC1_HUMAN;.	C|M	163|394;300;394	.|ENSP00000428635:T300M;ENSP00000262109:T394M	.|ENSP00000262109:T394M	R|T	-|-	1|2	0|0	ERICH1|ERICH1	608675|608675	0.996000|0.996000	0.38824|0.38824	0.021000|0.021000	0.16686|0.16686	0.002000|0.002000	0.02628|0.02628	2.792000|2.792000	0.47837|0.47837	0.257000|0.257000	0.21650|0.21650	0.561000|0.561000	0.74099|0.74099	CGC|ACG		0.537	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		24	39	0	0	0	1	0	24	39				
DNAH17	8632	broad.mit.edu	37	17	76488801	76488801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76488801G>A	ENST00000585328.1	-	42	6564	c.6440C>T	c.(6439-6441)cCg>cTg	p.P2147L	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.P2138L|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2138	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGGCGACCGGCTTCCTCTT	0.577																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6412-6414)cCg>cTg		dynein, axonemal, heavy chain 17							60.0	63.0	62.0					17																	76488801		1951	4152	6103	SO:0001583	missense	8632							g.chr17:76488801G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6440C>T	17.37:g.76488801G>A	ENSP00000465516:p.Pro2147Leu					RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2147L	p.P2138L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		42	6537	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6413C>T		.	.	.	.	.	.	.	.	.	.	G	16.65	3.183197	0.57800	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.34472	1.36	4.74	4.74	0.60224	.	.	.	.	.	T	0.55289	0.1911	M	0.69463	2.115	0.58432	D	0.999999	.	.	.	.	.	.	T	0.60576	-0.7236	7	0.72032	D	0.01	.	17.3191	0.87231	0.0:0.0:1.0:0.0	.	.	.	.	L	2147;2138	ENSP00000374490:P2138L	ENSP00000300671:P2147L	P	-	2	0	DNAH17	74000396	1.000000	0.71417	0.921000	0.36526	0.356000	0.29392	9.506000	0.97992	2.160000	0.67779	0.543000	0.68304	CCG		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	4	0	0	0	1	0	8	4				
OPN1SW	611	broad.mit.edu	37	7	128413872	128413872	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128413872A>G	ENST00000249389.2	-	4	757	c.758T>C	c.(757-759)gTg>gCg	p.V253A		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	253					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCCTACCATCACAACCACCAT	0.577																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(757-759)gTg>gCg		opsin 1 (cone pigments), short-wave-sensitive							176.0	118.0	138.0					7																	128413872		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128413872A>G	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.758T>C	7.37:g.128413872A>G	ENSP00000249389:p.Val253Ala						p.V253A	NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN			4	757	-			253					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.758T>C	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395463	0.83011	.	.	ENSG00000128617	ENST00000249389	T	0.39787	1.06	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.195462	0.42964	D	0.000626	T	0.57888	0.2084	M	0.88775	2.98	0.54753	D	0.999988	P	0.39480	0.675	P	0.45712	0.491	T	0.66689	-0.5860	10	0.87932	D	0	.	12.7568	0.57339	1.0:0.0:0.0:0.0	.	253	P03999	OPSB_HUMAN	A	253	ENSP00000249389:V253A	ENSP00000249389:V253A	V	-	2	0	OPN1SW	128201108	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	7.305000	0.78891	2.119000	0.64992	0.533000	0.62120	GTG		0.577	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		9	29	0	0	0	1	0	9	29				
PCNT	5116	broad.mit.edu	37	21	47851752	47851752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851752C>T	ENST00000359568.5	+	38	8481	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2792			Q -> R (in dbSNP:rs2073376).		brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCTCTGCTGCAGAAGCTGAA	0.612																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8374-8376)Cag>Tag		pericentrin							44.0	46.0	45.0					21																	47851752		2203	4300	6503	SO:0001587	stop_gained	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851752C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8374C>T	21.37:g.47851752C>T	ENSP00000352572:p.Gln2792*					PCNT_ENST00000480896.1_3'UTR	p.Q2792*	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8481	+	Breast(49;0.112)		2792		Q -> R (in dbSNP:rs2073376).			O43152|Q7Z7C9	Nonsense_Mutation	SNP	ENST00000359568.5	37	c.8374C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	46	12.956840	0.99709	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.32	2.43	0.29744	.	0.284430	0.19017	N	0.124923	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8598	0.29504	0.4351:0.4918:0.0:0.0731	.	.	.	.	X	2792	.	ENSP00000352572:Q2792X	Q	+	1	0	PCNT	46676180	0.982000	0.34865	0.396000	0.26296	0.033000	0.12548	1.780000	0.38634	0.293000	0.22520	-0.181000	0.13052	CAG		0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		16	11	0	0	0	1	0	16	11				
SLC16A5	9121	broad.mit.edu	37	17	73089826	73089826	+	Missense_Mutation	SNP	C	C	T	rs201064247	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089826C>T	ENST00000450736.2	+	2	510	c.95C>T	c.(94-96)aCg>aTg	p.T32M	SLC16A5_ENST00000329783.4_Missense_Mutation_p.T32M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T72M|SLC16A5_ENST00000580123.1_Missense_Mutation_p.T32M|SLC16A5_ENST00000585293.1_3'UTR			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	32					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGCTTCCCCACGTGTATCGGC	0.627													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19883	0.001		0.0	False		,,,				2504	0.0					ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(94-96)aCg>aTg		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						113.0	96.0	102.0					17																	73089826		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73089826C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.95C>T	17.37:g.73089826C>T	ENSP00000390564:p.Thr32Met					SLC16A5_ENST00000580123.1_Missense_Mutation_p.T32M|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.T32M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T72M	p.T32M			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	510	+	all_lung(278;0.226)		32					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.95C>T	CCDS11713.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.951	-0.216802	0.06101	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.22336	1.96;1.96;1.96	4.85	2.87	0.33458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.228496	0.45867	D	0.000334	T	0.27559	0.0677	L	0.43152	1.355	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.56398	0.782;0.797	T	0.03829	-1.1000	10	0.51188	T	0.08	.	8.1845	0.31330	0.0:0.7329:0.1312:0.1359	.	72;32	B4E288;O15375	.;MOT6_HUMAN	M	32;32;72	ENSP00000330141:T32M;ENSP00000390564:T32M;ENSP00000440212:T72M	ENSP00000330141:T32M	T	+	2	0	SLC16A5	70601421	0.000000	0.05858	0.006000	0.13384	0.145000	0.21501	1.218000	0.32467	0.654000	0.30846	0.591000	0.81541	ACG		0.627	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		5	70	0	0	0	1	0	5	70				
TAAR6	319100	broad.mit.edu	37	6	132892264	132892264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132892264G>A	ENST00000275198.1	+	1	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	268					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TAGCATTTATGATTTCATGGT	0.418																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(802-804)atG>atA		trace amine associated receptor 6							120.0	115.0	117.0					6																	132892264		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892264G>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.804G>A	6.37:g.132892264G>A	ENSP00000275198:p.Met268Ile						p.M268I	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	804	+	Breast(56;0.112)		268					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.804G>A	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136716	0.56936	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.68025	-0.3	5.11	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.681721	0.13731	N	0.366664	T	0.22044	0.0531	N	0.03029	-0.43	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19877	-1.0292	10	0.49607	T	0.09	-11.3545	9.6665	0.39988	0.0:0.1921:0.5606:0.2472	.	268	Q96RI8	TAAR6_HUMAN	I	268;243	ENSP00000275198:M268I	ENSP00000275198:M268I	M	+	3	0	TAAR6	132933957	0.000000	0.05858	0.839000	0.33178	0.894000	0.52154	-0.615000	0.05597	1.351000	0.45789	0.650000	0.86243	ATG		0.418	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		23	43	0	0	0	1	0	23	43				
ARNT2	9915	broad.mit.edu	37	15	80873696	80873696	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80873696G>A	ENST00000303329.4	+	17	2034	c.1869G>A	c.(1867-1869)tcG>tcA	p.S623S	hsa-mir-5572_ENST00000583188.1_RNA|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000533983.1_Silent_p.S612S|ARNT2_ENST00000527771.1_Silent_p.S612S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	623					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTACCTCCTCGCCAAGTGGGA	0.577																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1834-1836)tcG>tcA		aryl-hydrocarbon receptor nuclear translocator 2							85.0	80.0	82.0					15																	80873696		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80873696G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1869G>A	15.37:g.80873696G>A						ARNT2_ENST00000527771.1_Silent_p.S612S|ARNT2_ENST00000303329.4_Silent_p.S623S	p.S612S			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		18	2175	+			623					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1836G>A	CCDS32307.1																																																																																				0.577	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			24	42	0	0	0	1	0	24	42				
IRS4	8471	broad.mit.edu	37	X	107977146	107977146	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977146G>T	ENST00000372129.2	-	1	2505	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	810					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGGTAGAGAGAAGTAGGA	0.493																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2428-2430)tCt>tAt		insulin receptor substrate 4							137.0	144.0	142.0					X																	107977146		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977146G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2429C>A	X.37:g.107977146G>T	ENSP00000361202:p.Ser810Tyr						p.S810Y	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2505	-			810						Missense_Mutation	SNP	ENST00000372129.2	37	c.2429C>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779288	0.70107	.	.	ENSG00000133124	ENST00000372129	T	0.19250	2.16	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.76328	2.33	0.43793	D	0.996339	D	0.89917	1.0	D	0.80764	0.994	T	0.51741	-0.8667	10	0.87932	D	0	-14.8405	18.0258	0.89269	0.0:0.0:1.0:0.0	.	810	O14654	IRS4_HUMAN	Y	810	ENSP00000361202:S810Y	ENSP00000361202:S810Y	S	-	2	0	IRS4	107863802	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.925000	0.70062	2.447000	0.82792	0.600000	0.82982	TCT		0.493	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		20	282	1	0	2.4624e-09	1	2.98951e-09	20	282				
TMPRSS9	360200	broad.mit.edu	37	19	2421892	2421892	+	Missense_Mutation	SNP	G	G	A	rs377167838		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2421892G>A	ENST00000332578.3	+	13	2093	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCTGGCGTGTTTTAT	0.617																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2092-2094)gGc>gAc		transmembrane protease, serine 9							60.0	64.0	63.0					19																	2421892		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2421892G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2093G>A	19.37:g.2421892G>A	ENSP00000330264:p.Gly698Asp						p.G698D	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2093	+			698			Peptidase S1 2.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2093G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332881	0.60853	.	.	ENSG00000178297	ENST00000332578	T	0.62364	0.03	4.59	4.59	0.56863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000016	T	0.68577	0.3016	L	0.31526	0.94	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69277	-0.5187	10	0.40728	T	0.16	.	15.9794	0.80094	0.0:0.0:1.0:0.0	.	698	Q7Z410	TMPS9_HUMAN	D	698	ENSP00000330264:G698D	ENSP00000330264:G698D	G	+	2	0	TMPRSS9	2372892	1.000000	0.71417	0.064000	0.19789	0.381000	0.30169	7.702000	0.84576	2.101000	0.63845	0.561000	0.74099	GGC		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		26	54	0	0	0	1	0	26	54				
PUS1	80324	broad.mit.edu	37	12	132426280	132426280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132426280G>A	ENST00000376649.3	+	5	1488	c.988G>A	c.(988-990)Gga>Aga	p.G330R	PUS1_ENST00000542167.2_Missense_Mutation_p.G277R|PUS1_ENST00000440818.2_Missense_Mutation_p.G302R|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.G302R	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	330					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CAAGGCGCCCGGACTCGGCCT	0.647																																					Esophageal Squamous(102;671 2009 17384 45666)	ENST00000542167.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11						c.(829-831)Gga>Aga		pseudouridylate synthase 1							81.0	78.0	79.0					12																	132426280		2203	4300	6503	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426280G>A	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.988G>A	12.37:g.132426280G>A	ENSP00000365837:p.Gly330Arg					PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.G330R|PUS1_ENST00000443358.2_Missense_Mutation_p.G302R|PUS1_ENST00000440818.2_Missense_Mutation_p.G302R	p.G277R			Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	4	1582	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		330					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.829G>A	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904493	0.72868	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.17	5.17	0.71159	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84431	0.0577	10	0.72032	D	0.01	-32.368	18.6497	0.91427	0.0:0.0:1.0:0.0	.	277;330	F5H1S9;Q9Y606	.;TRUA_HUMAN	R	302;330;302;302;277	ENSP00000392451:G302R;ENSP00000365837:G330R;ENSP00000324726:G302R;ENSP00000400032:G302R;ENSP00000438948:G277R	ENSP00000324726:G302R	G	+	1	0	PUS1	130992233	1.000000	0.71417	0.900000	0.35374	0.243000	0.25628	9.799000	0.99117	2.405000	0.81733	0.491000	0.48974	GGA		0.647	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		37	40	0	0	0	1	0	37	40				
SENP2	59343	broad.mit.edu	37	3	185327117	185327117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185327117C>A	ENST00000296257.5	+	7	941	c.701C>A	c.(700-702)cCt>cAt	p.P234H	SENP2_ENST00000545472.1_Missense_Mutation_p.P224H|SENP2_ENST00000427465.2_Missense_Mutation_p.P58H	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	234					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTGTCTGTCCTGTAACTTCA	0.378																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(700-702)cCt>cAt		SUMO1/sentrin/SMT3 specific peptidase 2							102.0	103.0	103.0					3																	185327117		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185327117C>A	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.701C>A	3.37:g.185327117C>A	ENSP00000296257:p.Pro234His					SENP2_ENST00000545472.1_Missense_Mutation_p.P224H|SENP2_ENST00000427465.2_Missense_Mutation_p.P58H	p.P234H	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		7	941	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		234					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.701C>A	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201100	0.38905	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.36520	1.25;1.27;1.46	5.96	5.96	0.96718	.	0.588976	0.15469	N	0.260711	T	0.34861	0.0912	N	0.14661	0.345	0.21762	N	0.999553	D;P	0.53619	0.961;0.898	P;B	0.51453	0.67;0.428	T	0.24905	-1.0147	10	0.40728	T	0.16	-0.1213	15.9114	0.79475	0.0:1.0:0.0:0.0	.	224;234	B4DQ42;Q9HC62	.;SENP2_HUMAN	H	224;234;105;58	ENSP00000439653:P224H;ENSP00000296257:P234H;ENSP00000394562:P58H	ENSP00000296257:P234H	P	+	2	0	SENP2	186809811	0.709000	0.27886	0.043000	0.18650	0.440000	0.31957	3.850000	0.55918	2.829000	0.97493	0.579000	0.79373	CCT		0.378	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		8	68	1	0	0.0477658	1	0.0488009	8	68				
ADRM1	11047	broad.mit.edu	37	20	60881369	60881369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60881369G>A	ENST00000253003.2	+	4	493	c.447G>A	c.(445-447)gcG>gcA	p.A149A	ADRM1_ENST00000462554.1_3'UTR|LAMA5_ENST00000492698.1_5'Flank|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	149	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AACTCTCTGCGCTAGGCGGTA	0.597																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(445-447)gcG>gcA		adhesion regulating molecule 1							109.0	102.0	104.0					20																	60881369		2203	4300	6503	SO:0001819	synonymous_variant	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60881369G>A	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.447G>A	20.37:g.60881369G>A						RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	p.A149A	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		4	493	+	Breast(26;7.76e-09)		149			Gly-rich.		A0PKB1|Q96FJ7|Q9H1P2	Silent	SNP	ENST00000253003.2	37	c.447G>A	CCDS13496.1																																																																																				0.597	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			12	112	0	0	0	1	0	12	112				
CPEB3	22849	broad.mit.edu	37	10	93999628	93999628	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93999628G>T	ENST00000265997.4	-	2	652	c.480C>A	c.(478-480)acC>acA	p.T160T	CPEB3_ENST00000412050.4_Silent_p.T160T	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	160	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGTGCTGGGTCTGCGCCA	0.711																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(478-480)acC>acA		cytoplasmic polyadenylation element binding protein 3							17.0	17.0	17.0					10																	93999628		2203	4299	6502	SO:0001819	synonymous_variant	22849						nucleotide binding|RNA binding	g.chr10:93999628G>T	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.480C>A	10.37:g.93999628G>T						CPEB3_ENST00000265997.4_Silent_p.T160T	p.T160T	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	568	-		Colorectal(252;0.0869)	160			Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	37	c.480C>A	CCDS31246.1																																																																																				0.711	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		6	10	1	0	0.000157383	1	0.00017284	6	10				
ZMIZ2	83637	broad.mit.edu	37	7	44802511	44802511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802511G>A	ENST00000309315.4	+	12	1751	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R511H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R485H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R517H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R543H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	543					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGTGCACCGCCCATCCGTC	0.637																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1627-1629)cGc>cAc		zinc finger, MIZ-type containing 2							169.0	183.0	178.0					7																	44802511		2203	4300	6503	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44802511G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1628G>A	7.37:g.44802511G>A	ENSP00000311778:p.Arg543His					ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R485H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R543H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R511H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R517H	p.R543H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			12	1751	+			543					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1628G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015327	0.93404	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.39997	1.05;1.06;1.06;1.05;1.08	4.17	4.17	0.49024	.	0.000000	0.52532	D	0.000076	T	0.63954	0.2555	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.972	T	0.69884	-0.5024	10	0.87932	D	0	-13.9938	16.2678	0.82600	0.0:0.0:1.0:0.0	.	517;543;485	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	H	485;543;543;511;517;546	ENSP00000409648:R485H;ENSP00000311778:R543H;ENSP00000414723:R543H;ENSP00000396601:R511H;ENSP00000265346:R517H	ENSP00000265346:R517H	R	+	2	0	ZMIZ2	44769036	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.083000	0.94067	2.155000	0.67459	0.462000	0.41574	CGC		0.637	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		70	268	0	0	0	1	0	70	268				
NRG1	3084	broad.mit.edu	37	8	32585588	32585588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32585588C>T	ENST00000405005.3	+	6	624	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NRG1_ENST00000520502.2_Silent_p.Y263Y|NRG1_ENST00000520407.1_Silent_p.Y389Y|NRG1_ENST00000287842.3_Silent_p.Y208Y|NRG1_ENST00000519301.1_Silent_p.Y153Y|NRG1_ENST00000539990.1_Silent_p.Y54Y|NRG1_ENST00000341377.5_Silent_p.Y208Y|NRG1_ENST00000338921.4_Silent_p.Y208Y|NRG1_ENST00000356819.4_Silent_p.Y208Y|NRG1_ENST00000287845.5_Silent_p.Y174Y|NRG1_ENST00000523079.1_Silent_p.Y208Y|NRG1_ENST00000521670.1_Silent_p.Y208Y			Q02297	NRG1_HUMAN	neuregulin 1	208	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTCGAGATACTTGTGCAAGT	0.403																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(622-624)taC>taT		neuregulin 1							136.0	128.0	130.0					8																	32585588		2203	4300	6503	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32585588C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.624C>T	8.37:g.32585588C>T						NRG1_ENST00000520502.2_Silent_p.Y263Y|NRG1_ENST00000287840.5_Silent_p.Y208Y|NRG1_ENST00000539990.1_Silent_p.Y54Y|NRG1_ENST00000519301.1_Silent_p.Y153Y|NRG1_ENST00000287845.5_Silent_p.Y174Y|NRG1_ENST00000520407.1_Silent_p.Y389Y|NRG1_ENST00000405005.2_Silent_p.Y208Y|NRG1_ENST00000287842.3_Silent_p.Y208Y|NRG1_ENST00000523079.1_Silent_p.Y208Y|NRG1_ENST00000338921.4_Silent_p.Y208Y|NRG1_ENST00000356819.4_Silent_p.Y208Y|NRG1_ENST00000521670.1_Silent_p.Y208Y	p.Y208Y			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	6	1141	+		Breast(100;0.203)	208			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.624C>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	9.346	1.064357	0.20067	.	.	ENSG00000157168	ENST00000518206	.	.	.	5.92	5.05	0.67936	.	.	.	.	.	T	0.62233	0.2411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60890	-0.7173	4	.	.	.	-0.0145	10.3993	0.44220	0.0:0.8511:0.0:0.1489	.	.	.	.	I	87	.	.	T	+	2	0	NRG1	32705130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.613000	0.36900	1.517000	0.48917	0.585000	0.79938	ACT		0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			35	61	0	0	0	1	0	35	61				
ORC1	4998	broad.mit.edu	37	1	52847358	52847358	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52847358G>T	ENST00000371568.3	-	14	2307	c.2089C>A	c.(2089-2091)Cta>Ata	p.L697I	ORC1_ENST00000371566.1_Missense_Mutation_p.L697I	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	697	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGGCCTTTAGATGCTTGAGC	0.512																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2089-2091)Cta>Ata		origin recognition complex, subunit 1							109.0	98.0	102.0					1																	52847358		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52847358G>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2089C>A	1.37:g.52847358G>T	ENSP00000360623:p.Leu697Ile					ORC1_ENST00000371566.1_Missense_Mutation_p.L697I	p.L697I	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			14	2307	-			697			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.2089C>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	5.636	0.302065	0.10678	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.57907	0.37;0.37	4.84	-9.67	0.00531	.	0.510022	0.20509	N	0.090922	T	0.24275	0.0588	L	0.38733	1.17	0.18873	N	0.999988	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.35076	-0.9803	10	0.10902	T	0.67	0.1977	2.155	0.03810	0.1992:0.387:0.1271:0.2867	.	692;697	B7Z8H0;Q13415	.;ORC1_HUMAN	I	697	ENSP00000360623:L697I;ENSP00000360621:L697I	ENSP00000360621:L697I	L	-	1	2	ORC1	52619946	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-1.061000	0.03472	-1.805000	0.01239	-0.302000	0.09304	CTA		0.512	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		22	35	1	0	2.21704e-12	1	2.7869e-12	22	35				
SPERT	220082	broad.mit.edu	37	13	46287719	46287719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46287719C>T	ENST00000310521.1	+	3	639	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	SPERT_ENST00000378966.3_Missense_Mutation_p.R151W	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	187						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGAGGAGAACCGGATGCTCAG	0.627																																						ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(451-453)Cgg>Tgg		spermatid associated							75.0	72.0	73.0					13																	46287719		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287719C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.559C>T	13.37:g.46287719C>T	ENSP00000309189:p.Arg187Trp					SPERT_ENST00000310521.1_Missense_Mutation_p.R187W	p.R151W			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	867	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	187					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.451C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412129	0.62511	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.54866	0.58;0.55	5.23	-2.02	0.07388	.	0.659729	0.14187	N	0.335610	T	0.54127	0.1839	N	0.24115	0.695	0.19300	N	0.999974	D;D	0.71674	0.994;0.998	P;P	0.59012	0.788;0.85	T	0.60459	-0.7259	10	0.87932	D	0	.	17.979	0.89134	0.2632:0.7368:0.0:0.0	.	151;187	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	W	187;160;151	ENSP00000309189:R187W;ENSP00000368249:R151W	ENSP00000309189:R187W	R	+	1	2	SPERT	45185720	0.140000	0.22579	0.003000	0.11579	0.001000	0.01503	0.469000	0.22067	-0.818000	0.04329	-2.053000	0.00404	CGG		0.627	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		12	43	0	0	0	1	0	12	43				
CEP350	9857	broad.mit.edu	37	1	179989222	179989222	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179989222G>A	ENST00000367607.3	+	12	2731	c.2313G>A	c.(2311-2313)ttG>ttA	p.L771L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	771					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGGAATTTTGCATAAGGATT	0.413																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2311-2313)ttG>ttA		centrosomal protein 350kDa							114.0	115.0	114.0					1																	179989222		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179989222G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2313G>A	1.37:g.179989222G>A							p.L771L	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2731	+			771					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.2313G>A	CCDS1336.1																																																																																				0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		58	80	0	0	0	1	0	58	80				
ZSWIM8	23053	broad.mit.edu	37	10	75548921	75548921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75548921C>T	ENST00000605216.1	+	3	647	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R144W	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	144							zinc ion binding (GO:0008270)	p.R144W(4)									CTTCCGCATGCGGGCTGTGAA	0.572																																						ENST00000604729.1																			4	Substitution - Missense(4)	p.R144W(4)	urinary_tract(2)|large_intestine(2)								c.(430-432)Cgg>Tgg		zinc finger, SWIM-type containing 8							97.0	102.0	100.0					10																	75548921		2104	4225	6329	SO:0001583	missense	23053							g.chr10:75548921C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.430C>T	10.37:g.75548921C>T	ENSP00000474748:p.Arg144Trp					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R144W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R144W	p.R144W							3	727	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.430C>T		.	.	.	.	.	.	.	.	.	.	C	18.15	3.560024	0.65538	.	.	ENSG00000214655	ENST00000398706	T	0.42513	0.97	5.61	1.98	0.26296	.	.	.	.	.	T	0.56702	0.2003	M	0.65498	2.005	0.51012	D	0.999909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.965;0.977;0.965	T	0.55159	-0.8184	9	0.72032	D	0.01	.	8.091	0.30801	0.6771:0.2563:0.0666:0.0	.	144;144;144	A7E2V4;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.	W	144	ENSP00000381693:R144W	ENSP00000381693:R144W	R	+	1	2	KIAA0913	75218927	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.696000	0.25541	0.385000	0.24970	-0.264000	0.10439	CGG		0.572	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		27	20	0	0	0	1	0	27	20				
EIF3A	8661	broad.mit.edu	37	10	120832515	120832515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120832515C>T	ENST00000369144.3	-	4	555	c.428G>A	c.(427-429)aGa>aAa	p.R143K	EIF3A_ENST00000541549.1_Missense_Mutation_p.R109K	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TAAAAGTAATCTGTCAGTACG	0.393																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(427-429)aGa>aAa		eukaryotic translation initiation factor 3, subunit A							89.0	83.0	85.0					10																	120832515		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120832515C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.428G>A	10.37:g.120832515C>T	ENSP00000358140:p.Arg143Lys					EIF3A_ENST00000541549.1_Missense_Mutation_p.R109K|EIF3A_ENST00000478852.1_Intron	p.R143K	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	4	555	-		Lung NSC(174;0.094)|all_lung(145;0.123)	143					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.428G>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836005	0.91117	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.44482	0.92;0.92	6.08	6.08	0.98989	.	0.000000	0.40554	N	0.001069	T	0.65913	0.2737	M	0.70275	2.135	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.63047	-0.6724	10	0.52906	T	0.07	-16.0955	20.6721	0.99693	0.0:1.0:0.0:0.0	.	143	Q14152	EIF3A_HUMAN	K	143;109	ENSP00000358140:R143K;ENSP00000438178:R109K	ENSP00000358140:R143K	R	-	2	0	EIF3A	120822505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.894000	0.99253	0.591000	0.81541	AGA		0.393	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		26	32	0	0	0	1	0	26	32				
C12orf56	115749	broad.mit.edu	37	12	64671501	64671501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64671501C>T	ENST00000543942.2	-	9	2019	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.V305M|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	465										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GAATCAGCCACCAACTGGATA	0.368																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(1393-1395)Gtg>Atg		chromosome 12 open reading frame 56							40.0	39.0	39.0					12																	64671501		1807	4077	5884	SO:0001583	missense	115749							g.chr12:64671501C>T		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1393G>A	12.37:g.64671501C>T	ENSP00000446101:p.Val465Met					C12orf56_ENST00000333722.5_Missense_Mutation_p.V305M|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	p.V465M	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	9	2019	-			468						Missense_Mutation	SNP	ENST00000543942.2	37	c.1393G>A		.	.	.	.	.	.	.	.	.	.	C	10.68	1.417716	0.25552	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.43	2.6	0.31112	.	1.148760	0.06484	N	0.733464	T	0.59335	0.2186	M	0.68317	2.08	0.24245	N	0.995346	P;D	0.69078	0.612;0.997	B;D	0.66497	0.169;0.944	T	0.32508	-0.9904	8	.	.	.	-0.4266	6.809	0.23794	0.0:0.7886:0.0:0.2114	.	305;468	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	M	305;466;468	.	.	V	-	1	0	C12orf56	62957768	0.041000	0.20044	0.905000	0.35620	0.033000	0.12548	0.003000	0.13083	0.622000	0.30249	0.655000	0.94253	GTG		0.368	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		8	6	0	0	0	1	0	8	6				
HHAT	55733	broad.mit.edu	37	1	210796895	210796895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210796895G>A	ENST00000367010.1	+	11	1498	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	HHAT_ENST00000413764.2_Missense_Mutation_p.R424H|HHAT_ENST00000261458.3_Missense_Mutation_p.R424H|HHAT_ENST00000308852.6_Missense_Mutation_p.R379H|HHAT_ENST00000391905.3_Missense_Mutation_p.R424H|HHAT_ENST00000545154.1_Missense_Mutation_p.R425H|HHAT_ENST00000367009.1_Missense_Mutation_p.R114H|HHAT_ENST00000537898.1_Missense_Mutation_p.R359H|HHAT_ENST00000541565.1_Missense_Mutation_p.R287H|HHAT_ENST00000545781.1_Missense_Mutation_p.R361H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	424					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCACAAGCTCGCCGTCGATTC	0.512																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1270-1272)cGc>cAc		hedgehog acyltransferase							275.0	258.0	264.0					1																	210796895		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796895G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1271G>A	1.37:g.210796895G>A	ENSP00000355977:p.Arg424His					HHAT_ENST00000545781.1_Missense_Mutation_p.R361H|HHAT_ENST00000413764.2_Missense_Mutation_p.R424H|HHAT_ENST00000541565.1_Missense_Mutation_p.R287H|HHAT_ENST00000537898.1_Missense_Mutation_p.R359H|HHAT_ENST00000308852.6_Missense_Mutation_p.R379H|HHAT_ENST00000545154.1_Missense_Mutation_p.R425H|HHAT_ENST00000367009.1_Missense_Mutation_p.R114H|HHAT_ENST00000261458.3_Missense_Mutation_p.R424H|HHAT_ENST00000391905.3_Missense_Mutation_p.R424H	p.R424H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1498	+			424					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1271G>A	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	7.771	0.707531	0.15239	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.87	2.82	0.32997	.	0.495007	0.23187	N	0.050959	T	0.46229	0.1382	N	0.19112	0.55	0.21627	N	0.999611	B;B;B;B;B	0.23316	0.021;0.031;0.083;0.081;0.012	B;B;B;B;B	0.16722	0.004;0.004;0.008;0.016;0.008	T	0.13926	-1.0491	10	0.18276	T	0.48	-15.0147	2.716	0.05187	0.1599:0.1425:0.5507:0.147	.	379;425;287;359;424	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	H	424;287;425;359;424;361;424;379;424;114	ENSP00000416845:R424H;ENSP00000444995:R287H;ENSP00000438468:R425H;ENSP00000442625:R359H;ENSP00000375773:R424H;ENSP00000439229:R361H;ENSP00000261458:R424H;ENSP00000308628:R379H;ENSP00000355977:R424H;ENSP00000355976:R114H	ENSP00000261458:R424H	R	+	2	0	HHAT	208863518	1.000000	0.71417	0.987000	0.45799	0.001000	0.01503	1.171000	0.31896	0.809000	0.34255	-0.142000	0.14014	CGC		0.512	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		98	203	0	0	0	1	0	98	203				
DIRC2	84925	broad.mit.edu	37	3	122545775	122545775	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122545775T>G	ENST00000261038.5	+	3	964	c.566T>G	c.(565-567)cTc>cGc	p.L189R		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	189					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCATCAATGCTCAGTTATCTT	0.502																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(565-567)cTc>cGc		disrupted in renal carcinoma 2							174.0	158.0	163.0					3																	122545775		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545775T>G	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.566T>G	3.37:g.122545775T>G	ENSP00000261038:p.Leu189Arg						p.L189R	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	964	+			189					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.566T>G	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045371	0.55110	.	.	ENSG00000138463	ENST00000261038	T	0.59638	0.25	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.178828	0.51477	N	0.000096	T	0.53481	0.1799	L	0.53249	1.67	0.50813	D	0.999898	B	0.16166	0.016	B	0.15484	0.013	T	0.48186	-0.9057	10	0.25106	T	0.35	.	15.5446	0.76086	0.0:0.0:0.0:1.0	.	189	Q96SL1	DIRC2_HUMAN	R	189	ENSP00000261038:L189R	ENSP00000261038:L189R	L	+	2	0	DIRC2	124028465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.395000	0.79876	2.267000	0.75376	0.529000	0.55759	CTC		0.502	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		6	108	0	0	0	1	0	6	108				
PLCH1	23007	broad.mit.edu	37	3	155311772	155311772	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155311772C>G	ENST00000340059.7	-	3	391	c.392G>C	c.(391-393)aGt>aCt	p.S131T	PLCH1_ENST00000447496.2_Missense_Mutation_p.S131T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S113T|PLCH1_ENST00000460012.1_Missense_Mutation_p.S113T|PLCH1_ENST00000334686.6_Missense_Mutation_p.S113T|PLCH1_ENST00000494598.1_Missense_Mutation_p.S131T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	131					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTTCATCACTGATGCCAGC	0.527																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(337-339)aGt>aCt		phospholipase C, eta 1							90.0	87.0	88.0					3																	155311772		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155311772C>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.392G>C	3.37:g.155311772C>G	ENSP00000345988:p.Ser131Thr					PLCH1_ENST00000334686.6_Missense_Mutation_p.S113T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S131T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S113T|PLCH1_ENST00000447496.2_Missense_Mutation_p.S131T|PLCH1_ENST00000494598.1_Missense_Mutation_p.S131T	p.S113T			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	695	-			131			PH.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.338G>C	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435273	0.83885	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.30714	2.04;2.0;1.52;2.0;2.0;2.0	5.63	5.63	0.86233	Pleckstrin homology-type (1);	0.102987	0.64402	D	0.000006	T	0.49167	0.1541	L	0.45581	1.43	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.968	D;D;P	0.68483	0.958;0.925;0.81	T	0.12066	-1.0562	10	0.25106	T	0.35	.	20.0471	0.97613	0.0:1.0:0.0:0.0	.	113;131;131	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	T	131;113;131;131;113;113	ENSP00000419100:S131T;ENSP00000417502:S113T;ENSP00000402759:S131T;ENSP00000345988:S131T;ENSP00000335469:S113T;ENSP00000412977:S113T	ENSP00000335469:S113T	S	-	2	0	PLCH1	156794466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.948000	0.70249	2.815000	0.96918	0.561000	0.74099	AGT		0.527	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		11	30	0	0	0	1	0	11	30				
TJP1	7082	broad.mit.edu	37	15	30003154	30003154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30003154C>T	ENST00000346128.6	-	24	4727	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	TJP1_ENST00000400011.2_Missense_Mutation_p.R1342H|TJP1_ENST00000545208.2_Missense_Mutation_p.R1338H|TJP1_ENST00000356107.6_Missense_Mutation_p.R1418H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1418					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGTTCATAGCGTTTCTCGCC	0.507																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4252-4254)cGc>cAc		tight junction protein 1							169.0	181.0	177.0					15																	30003154		2032	4196	6228	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003154C>T		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4253G>A	15.37:g.30003154C>T	ENSP00000281537:p.Arg1418His					TJP1_ENST00000400011.2_Missense_Mutation_p.R1342H|TJP1_ENST00000545208.2_Missense_Mutation_p.R1338H|TJP1_ENST00000356107.6_Missense_Mutation_p.R1418H	p.R1418H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4727	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1418					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4253G>A	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429676	0.62844	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.56103	0.48;0.48	5.62	4.71	0.59529	.	0.050787	0.85682	N	0.000000	T	0.69913	0.3164	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.964;0.966;0.964;0.993	T	0.73780	-0.3875	10	0.87932	D	0	.	14.2724	0.66159	0.0:0.9286:0.0:0.0713	.	1411;1338;1418;1342	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1418;1342;1418;1338;1338	ENSP00000281537:R1418H;ENSP00000382890:R1342H	ENSP00000281537:R1418H	R	-	2	0	TJP1	27790446	1.000000	0.71417	0.956000	0.39512	0.222000	0.24845	3.796000	0.55507	1.374000	0.46228	0.655000	0.94253	CGC		0.507	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		56	91	0	0	0	1	0	56	91				
NCOA4	8031	broad.mit.edu	37	10	51585345	51585345	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51585345A>C	ENST00000443446.1	+	8	1673	c.1444A>C	c.(1444-1446)Att>Ctt	p.I482L	NCOA4_ENST00000344348.6_Missense_Mutation_p.I482L|NCOA4_ENST00000430396.2_Missense_Mutation_p.I382L|NCOA4_ENST00000414907.2_Missense_Mutation_p.I316L|NCOA4_ENST00000374082.1_Missense_Mutation_p.I482L|NCOA4_ENST00000438493.1_Missense_Mutation_p.I498L|NCOA4_ENST00000374087.4_Missense_Mutation_p.I482L|NCOA4_ENST00000452682.1_Missense_Mutation_p.I498L	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	482					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCTTCTAGAATTGCTGATTC	0.448			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1492-1494)Att>Ctt		nuclear receptor coactivator 4							115.0	125.0	122.0					10																	51585345		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51585345A>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1444A>C	10.37:g.51585345A>C	ENSP00000390713:p.Ile482Leu					NCOA4_ENST00000443446.1_Missense_Mutation_p.I482L|NCOA4_ENST00000414907.2_Missense_Mutation_p.I316L|NCOA4_ENST00000438493.1_Missense_Mutation_p.I498L|NCOA4_ENST00000344348.6_Missense_Mutation_p.I482L|NCOA4_ENST00000374082.1_Missense_Mutation_p.I482L|NCOA4_ENST00000430396.2_Missense_Mutation_p.I382L|NCOA4_ENST00000374087.4_Missense_Mutation_p.I482L	p.I498L	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1744	+			482					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.1492A>C	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129622	0.37630	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.92	-2.31	0.06765	.	0.619532	0.16670	N	0.204397	T	0.27524	0.0676	M	0.66939	2.045	0.09310	N	1	B;B;B;B	0.27229	0.172;0.172;0.172;0.104	B;B;B;B	0.21546	0.035;0.023;0.023;0.023	T	0.23226	-1.0194	9	.	.	.	-4.65	12.3991	0.55402	0.5654:0.0:0.4346:0.0	.	382;498;498;482	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	L	498;498;382;482;316;482;482;482	ENSP00000405146:I498L;ENSP00000395465:I498L;ENSP00000393053:I382L;ENSP00000363200:I482L;ENSP00000411018:I316L;ENSP00000344552:I482L;ENSP00000363195:I482L;ENSP00000390713:I482L	.	I	+	1	0	NCOA4	51255351	0.160000	0.22878	0.030000	0.17652	0.811000	0.45836	0.459000	0.21908	-0.340000	0.08388	-0.263000	0.10527	ATT		0.448	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		55	146	0	0	0	1	0	55	146				
LMO2	4005	broad.mit.edu	37	11	33886303	33886303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33886303C>A	ENST00000395833.3	-	2	531	c.102G>T	c.(100-102)caG>caT	p.Q34H	LMO2_ENST00000257818.2_Missense_Mutation_p.Q103H	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	34	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CAATGTTCTGCTGGCAGCCGC	0.632			T	TRD@	T-ALL																																	ENST00000257818.2				Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		0				NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(307-309)caG>caT		LIM domain only 2 (rhombotin-like 1)							59.0	51.0	54.0					11																	33886303		2202	4298	6500	SO:0001583	missense	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33886303C>A	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.102G>T	11.37:g.33886303C>A	ENSP00000379175:p.Gln34His					LMO2_ENST00000395833.3_Missense_Mutation_p.Q34H	p.Q103H	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN			5	1138	-			34			LIM zinc-binding 2.		Q9HD58	Missense_Mutation	SNP	ENST00000395833.3	37	c.309G>T	CCDS44567.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566757	0.65651	.	.	ENSG00000135363	ENST00000395833;ENST00000257818	D;D	0.87571	-2.27;-2.27	5.42	5.42	0.78866	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	N	0.13352	0.335	0.80722	D	1	B;P	0.39883	0.028;0.693	B;B	0.31290	0.011;0.127	T	0.77983	-0.2382	10	0.46703	T	0.11	.	13.8491	0.63485	0.0:0.9265:0.0:0.0735	.	103;34	P25791-3;P25791	.;RBTN2_HUMAN	H	34;103	ENSP00000379175:Q34H;ENSP00000257818:Q103H	ENSP00000257818:Q103H	Q	-	3	2	LMO2	33842879	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.663000	0.46774	2.704000	0.92352	0.650000	0.86243	CAG		0.632	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		14	39	1	0	7.93312e-07	1	9.21973e-07	14	39				
PAM16	51025	broad.mit.edu	37	16	4393218	4393218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4393218C>T	ENST00000318059.3	-	2	215	c.78G>A	c.(76-78)caG>caA	p.Q26Q	CORO7-PAM16_ENST00000572467.1_Silent_p.Q949Q|PAM16_ENST00000575942.1_5'Flank|PAM16_ENST00000576217.1_Silent_p.Q26Q|PAM16_ENST00000573553.1_Silent_p.Q46Q|PAM16_ENST00000575848.1_Silent_p.Q38Q|CORO7-PAM16_ENST00000572274.1_Intron|PAM16_ENST00000577031.1_Silent_p.Q26Q|PAM16_ENST00000571941.1_Silent_p.Q46Q	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	26					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						CTGCAAACTCCTGCCGCAAGG	0.627																																						ENST00000572467.1																			0											c.(2845-2847)caG>caA									78.0	56.0	63.0					16																	4393218		2192	4298	6490	SO:0001819	synonymous_variant	0							g.chr16:4393218C>T	AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"""mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"""	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.78G>A	16.37:g.4393218C>T						PAM16_ENST00000577031.1_Silent_p.Q26Q|PAM16_ENST00000571941.1_Silent_p.Q46Q|PAM16_ENST00000573553.1_Silent_p.Q46Q|CORO7-PAM16_ENST00000572274.1_Intron|PAM16_ENST00000576217.1_Silent_p.Q26Q|PAM16_ENST00000575848.1_Silent_p.Q38Q|PAM16_ENST00000318059.3_Silent_p.Q26Q	p.Q949Q	NM_001201479.1	NP_001188408.1					28	2915	-								Q6I9Z3|Q9H5X3	Silent	SNP	ENST00000318059.3	37	c.2847G>A	CCDS10512.1																																																																																				0.627	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251629.2	NM_016069		13	24	0	0	0	1	0	13	24				
SAA2	6289	broad.mit.edu	37	11	18267031	18267031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267031C>A	ENST00000526900.1	-	4	445	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C	SAA2_ENST00000530400.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.G88C|SAA2_ENST00000256733.4_Missense_Mutation_p.G88C|SAA2_ENST00000414546.2_Intron			P0DJI9	SAA2_HUMAN	serum amyloid A2	88					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCACCACGGCCTGTGAGTCTC	0.567																																						ENST00000526900.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(262-264)Ggc>Tgc		serum amyloid A2							84.0	75.0	78.0					11																	18267031		2199	4293	6492	SO:0001583	missense	6289							g.chr11:18267031C>A	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.262G>T	11.37:g.18267031C>A	ENSP00000436126:p.Gly88Cys					SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.G88C|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.G88C	p.G88C							4	445	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.262G>T	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749610	0.49257	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.11495	2.77;2.77;2.77	5.01	3.07	0.35406	.	0.067196	0.64402	D	0.000016	T	0.13200	0.0320	.	.	.	0.21719	N	0.999579	.	.	.	.	.	.	T	0.07462	-1.0771	7	0.87932	D	0	.	6.3325	0.21279	0.0:0.7177:0.0:0.2823	.	.	.	.	C	88	ENSP00000256733:G88C;ENSP00000437162:G88C;ENSP00000436126:G88C	ENSP00000256733:G88C	G	-	1	0	SAA2	18223607	0.966000	0.33281	0.081000	0.20488	0.014000	0.08584	2.292000	0.43549	1.229000	0.43630	0.650000	0.86243	GGC		0.567	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		11	27	1	0	0.000673444	1	0.000724755	11	27				
ECT2L	345930	broad.mit.edu	37	6	139164158	139164158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164158C>A	ENST00000423192.1	+	5	546	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	ECT2L_ENST00000541398.1_Missense_Mutation_p.L60M|ECT2L_ENST00000367682.2_Missense_Mutation_p.L129M			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	129							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATGGTTTCTGCCCTATAC	0.448			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(385-387)Ctg>Atg		epithelial cell transforming sequence 2 oncogene-like							142.0	134.0	137.0					6																	139164158		1967	4154	6121	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139164158C>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.385C>A	6.37:g.139164158C>A	ENSP00000387388:p.Leu129Met					ECT2L_ENST00000541398.1_Missense_Mutation_p.L60M|ECT2L_ENST00000367682.2_Missense_Mutation_p.L129M	p.L129M			Q008S8	ECT2L_HUMAN			5	546	+			129					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.385C>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998090	0.74818	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.56776	0.44;0.44;0.44	5.71	4.85	0.62838	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000005	T	0.51770	0.1694	L	0.36672	1.1	0.35973	D	0.835488	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.61574	-0.7035	10	0.87932	D	0	.	11.8411	0.52355	0.0:0.918:0.0:0.082	.	60;129	F5H7S9;Q008S8	.;ECT2L_HUMAN	M	129;129;60	ENSP00000387388:L129M;ENSP00000356655:L129M;ENSP00000442307:L60M	ENSP00000356655:L129M	L	+	1	2	ECT2L	139205851	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.365000	0.52335	1.431000	0.47355	-0.225000	0.12378	CTG		0.448	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		7	75	1	0	0.00448238	1	0.00472561	7	75				
JAKMIP2	9832	broad.mit.edu	37	5	146997622	146997622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146997622A>G	ENST00000265272.5	-	19	2665	c.2198T>C	c.(2197-2199)aTc>aCc	p.I733T	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I712T|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I691T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	733						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAACTTGATAACAGTTTC	0.408																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(2197-2199)aTc>aCc		janus kinase and microtubule interacting protein 2							153.0	143.0	146.0					5																	146997622		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:146997622A>G	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2198T>C	5.37:g.146997622A>G	ENSP00000265272:p.Ile733Thr					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I691T|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I712T	p.I733T	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	2665	-			733					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.2198T>C	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938723	0.34189	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.22134	1.97;1.97;1.97	5.61	5.61	0.85477	.	0.247105	0.39407	N	0.001366	T	0.15132	0.0365	L	0.44542	1.39	0.50813	D	0.999894	B;B;B;B	0.31817	0.341;0.341;0.341;0.341	B;B;B;B	0.25140	0.058;0.058;0.058;0.04	T	0.06303	-1.0834	10	0.11182	T	0.66	.	10.4602	0.44575	0.9273:0.0:0.0727:0.0	.	691;733;712;733	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	T	712;733;691;712	ENSP00000421398:I712T;ENSP00000265272:I733T;ENSP00000328989:I691T	ENSP00000265272:I733T	I	-	2	0	JAKMIP2	146977815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.148000	0.77389	2.261000	0.74972	0.460000	0.39030	ATC		0.408	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		29	61	0	0	0	1	0	29	61				
MAML3	55534	broad.mit.edu	37	4	140810384	140810384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810384G>T	ENST00000398940.1	-	5	783	c.784C>A	c.(784-786)Cct>Act	p.P262T	MAML3_ENST00000509479.2_Intron|MAML3_ENST00000327122.5_Intron					mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACTACCTGAGGATGTGTAAAG	0.433																																						ENST00000398940.1																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(784-786)Cct>Act		mastermind-like 3 (Drosophila)							133.0	121.0	125.0					4																	140810384		876	1991	2867	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810384G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.784C>A	4.37:g.140810384G>T	ENSP00000381913:p.Pro262Thr					MAML3_ENST00000327122.5_Intron|MAML3_ENST00000509479.2_Intron	p.P262T			Q96JK9	MAML3_HUMAN			5	783	-	all_hematologic(180;0.162)		0						Missense_Mutation	SNP	ENST00000398940.1	37	c.784C>A		.	.	.	.	.	.	.	.	.	.	G	3.470	-0.108210	0.06924	.	.	ENSG00000196782	ENST00000398940	.	.	.	3.87	1.16	0.20824	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36817	-0.9732	5	0.87932	D	0	.	5.3166	0.15858	0.3728:0.0:0.6272:0.0	.	.	.	.	T	262	.	ENSP00000381913:P262T	P	-	1	0	MAML3	141029834	0.010000	0.17322	0.000000	0.03702	0.005000	0.04900	1.930000	0.40124	0.424000	0.26061	0.591000	0.81541	CCT		0.433	MAML3-202	KNOWN	basic	protein_coding	protein_coding				28	50	1	0	1.39806e-14	1	1.78606e-14	28	50				
DNAJC13	23317	broad.mit.edu	37	3	132218639	132218639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132218639A>G	ENST00000260818.6	+	38	4651	c.4403A>G	c.(4402-4404)gAc>gGc	p.D1468G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1468					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAACCAAGTGACATGTCAGTA	0.433																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(4402-4404)gAc>gGc		DnaJ (Hsp40) homolog, subfamily C, member 13							205.0	213.0	210.0					3																	132218639		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132218639A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4403A>G	3.37:g.132218639A>G	ENSP00000260818:p.Asp1468Gly						p.D1468G	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			38	4651	+			1468					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4403A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458648	0.84317	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.49720	0.77	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.79693	2.465	0.80722	D	1	D	0.58268	0.982	P	0.46144	0.505	T	0.66976	-0.5787	10	0.72032	D	0.01	.	15.3056	0.73990	1.0:0.0:0.0:0.0	.	1468	O75165	DJC13_HUMAN	G	1468;115	ENSP00000260818:D1468G	ENSP00000260818:D1468G	D	+	2	0	DNAJC13	133701329	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.706000	0.91362	2.060000	0.61445	0.454000	0.30748	GAC		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		78	172	0	0	0	1	0	78	172				
SH3KBP1	30011	broad.mit.edu	37	X	19713850	19713850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19713850C>A	ENST00000397821.3	-	5	690	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.G97*|SH3KBP1_ENST00000379697.3_Nonsense_Mutation_p.G134*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	134	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCCCACCATCCTTCCTCTACC	0.473																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(400-402)Gga>Tga		SH3-domain kinase binding protein 1							115.0	95.0	102.0					X																	19713850		2203	4300	6503	SO:0001587	stop_gained	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19713850C>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.400G>T	X.37:g.19713850C>A	ENSP00000380921:p.Gly134*					SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.G97*|SH3KBP1_ENST00000379697.3_Nonsense_Mutation_p.G134*	p.G134*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			5	690	-			134			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Nonsense_Mutation	SNP	ENST00000397821.3	37	c.400G>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	40	7.940387	0.98571	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.8248	19.5097	0.95137	0.0:1.0:0.0:0.0	.	.	.	.	X	75;134;42;97;70;134;81;42	.	ENSP00000369019:G134X	G	-	1	0	SH3KBP1	19623771	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.214000	0.77958	2.562000	0.86427	0.600000	0.82982	GGA		0.473	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		26	48	1	0	1.17739e-12	1	1.48344e-12	26	48				
INPP5D	3635	broad.mit.edu	37	2	233986949	233986949	+	Missense_Mutation	SNP	G	G	A	rs373149593		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233986949G>A	ENST00000359570.5	+	3	331	c.331G>A	c.(331-333)Gac>Aac	p.D111N	INPP5D_ENST00000538935.1_Missense_Mutation_p.D111N|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	111					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACAGGCGACGACCCTGAGGA	0.567																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(331-333)Gac>Aac		inositol polyphosphate-5-phosphatase, 145kDa			ASN/ASP,ASN/ASP	0,4112		0,0,2056	43.0	49.0	47.0		331,331	5.1	0.8	2		47	1,8363		0,1,4181	no	missense,missense	INPP5D	NM_001017915.1.dup,NM_005541.3.dup	23,23	0,1,6237	AA,AG,GG		0.012,0.0,0.0080	benign,benign	111/233,111/232	233986949	1,12475	2056	4182	6238	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233986949G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.331G>A	2.37:g.233986949G>A	ENSP00000352575:p.Asp111Asn					INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.D111N	p.D111N			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	3	331	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	111					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.331G>A		.	.	.	.	.	.	.	.	.	.	g	25.2	4.614044	0.87359	0.0	1.2E-4	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96396	-2.95;-2.95;-4.0;-3.94	5.06	5.06	0.68205	.	0.500084	0.21707	N	0.070332	D	0.93884	0.8043	.	.	.	0.27786	N	0.942976	B;B	0.26775	0.159;0.02	B;B	0.25291	0.059;0.029	D	0.89411	0.3703	9	0.52906	T	0.07	.	15.4259	0.75051	0.0:0.0:1.0:0.0	.	111;111	Q92835-2;Q92835	.;SHIP1_HUMAN	N	111	ENSP00000409018:D111N;ENSP00000415253:D111N;ENSP00000352575:D111N;ENSP00000441010:D111N	ENSP00000352575:D111N	D	+	1	0	INPP5D	233695193	1.000000	0.71417	0.829000	0.32907	0.848000	0.48234	6.689000	0.74562	2.349000	0.79799	0.645000	0.84053	GAC		0.567	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	15	0	0	0	1	0	12	15				
OR7E24	26648	broad.mit.edu	37	19	9361936	9361936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9361936C>A	ENST00000456448.1	+	1	331	c.217C>A	c.(217-219)Ctc>Atc	p.L73I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGACTCCCACCTCCACACCCC	0.572																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(217-219)Ctc>Atc		olfactory receptor, family 7, subfamily E, member 24																																				SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361936C>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.217C>A	19.37:g.9361936C>A	ENSP00000387523:p.Leu73Ile						p.L73I	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	331	+			73					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.217C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	16.74	3.208016	0.58343	.	.	ENSG00000237521	ENST00000456448	T	0.13778	2.56	2.39	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.44414	0.1292	H	0.95504	3.68	0.32494	N	0.539818	D	0.89917	1.0	D	0.70487	0.969	T	0.58567	-0.7614	9	0.87932	D	0	.	8.9642	0.35865	0.2239:0.7761:0.0:0.0	.	73	Q6IFN5	O7E24_HUMAN	I	73	ENSP00000387523:L73I	ENSP00000387523:L73I	L	+	1	0	OR7E24	9222936	0.835000	0.29415	0.992000	0.48379	0.755000	0.42902	1.610000	0.36869	0.319000	0.23209	0.436000	0.28706	CTC		0.572	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			8	36	1	0	2.17888e-05	1	2.45068e-05	8	36				
CPA2	1358	broad.mit.edu	37	7	129915044	129915044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129915044G>A	ENST00000222481.4	+	6	597	c.542G>A	c.(541-543)cGa>cAa	p.R181Q		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	181	Substrate binding. {ECO:0000250}.				protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATCCATGCTCGAGAGTGGGTT	0.517																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(541-543)cGa>cAa		carboxypeptidase A2 (pancreatic)							159.0	134.0	142.0					7																	129915044		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129915044G>A	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.542G>A	7.37:g.129915044G>A	ENSP00000222481:p.Arg181Gln						p.R181Q	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			6	597	+	Melanoma(18;0.0435)		181			Substrate binding (By similarity).		A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.542G>A	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758023	0.89843	.	.	ENSG00000158516	ENST00000222481	T	0.04502	3.61	5.14	3.26	0.37387	Peptidase M14, carboxypeptidase A (4);	0.072935	0.53938	D	0.000054	T	0.34221	0.0890	H	0.99249	4.485	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.50423	-0.8830	10	0.66056	D	0.02	.	9.3305	0.38018	0.0757:0.0:0.7811:0.1432	.	179;181	B4DDX9;P48052	.;CBPA2_HUMAN	Q	181	ENSP00000222481:R181Q	ENSP00000222481:R181Q	R	+	2	0	CPA2	129702280	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.330000	0.79181	1.410000	0.46936	0.655000	0.94253	CGA		0.517	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		4	64	0	0	0	1	0	4	64				
NLRP7	199713	broad.mit.edu	37	19	55451754	55451754	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55451754T>C	ENST00000590030.1	-	3	473	c.433A>G	c.(433-435)Aat>Gat	p.N145D	NLRP7_ENST00000588756.1_Missense_Mutation_p.N145D|NLRP7_ENST00000448121.2_Missense_Mutation_p.N145D|NLRP7_ENST00000446217.1_Missense_Mutation_p.N173D|NLRP7_ENST00000328092.5_Missense_Mutation_p.N145D|NLRP7_ENST00000592784.1_Missense_Mutation_p.N145D|NLRP7_ENST00000340844.2_Missense_Mutation_p.N145D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	145							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATGGAAATTGTCAATGTCT	0.478																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(517-519)Aat>Gat		NLR family, pyrin domain containing 7							272.0	294.0	287.0					19																	55451754		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451754T>C	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.433A>G	19.37:g.55451754T>C	ENSP00000465520:p.Asn145Asp					NLRP7_ENST00000448121.2_Missense_Mutation_p.N145D|NLRP7_ENST00000592784.1_Missense_Mutation_p.N145D|NLRP7_ENST00000590030.1_Missense_Mutation_p.N145D|NLRP7_ENST00000588756.1_Missense_Mutation_p.N145D|NLRP7_ENST00000340844.2_Missense_Mutation_p.N145D|NLRP7_ENST00000328092.5_Missense_Mutation_p.N145D	p.N173D			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	919	-			145			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.517A>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.115031	0.00349	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.72725	-0.62;-0.62;-0.68;-0.65	1.87	-1.7	0.08159	.	1.305210	0.05697	N	0.593419	T	0.40670	0.1126	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.30851	-0.9964	10	0.02654	T	1	.	2.7584	0.05299	0.1993:0.2664:0.0:0.5343	.	173;145;145;145	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	D	145;145;145;173	ENSP00000329568:N145D;ENSP00000409137:N145D;ENSP00000339491:N145D;ENSP00000414273:N173D	ENSP00000329568:N145D	N	-	1	0	NLRP7	60143566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.112000	0.10791	-0.609000	0.05724	-0.490000	0.04691	AAT		0.478	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		12	447	0	0	0	1	0	12	447				
SENP2	59343	broad.mit.edu	37	3	185304249	185304249	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185304249C>T	ENST00000296257.5	+	1	288	c.48C>T	c.(46-48)tgC>tgT	p.C16C	SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	16					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCGTTTCTGCGACCGGTCGG	0.667																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(46-48)tgC>tgT		SUMO1/sentrin/SMT3 specific peptidase 2							91.0	93.0	92.0					3																	185304249		2203	4300	6503	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185304249C>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.48C>T	3.37:g.185304249C>T						SENP2_ENST00000465201.1_Intron|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000427465.2_5'UTR	p.C16C	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		1	288	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		16					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.48C>T	CCDS33902.1																																																																																				0.667	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		15	129	0	0	0	1	0	15	129				
PHF8	23133	broad.mit.edu	37	X	53965633	53965633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53965633G>A	ENST00000357988.5	-	22	3499	c.3141C>T	c.(3139-3141)ggC>ggT	p.G1047G	PHF8_ENST00000338946.6_Silent_p.G910G|PHF8_ENST00000338154.6_Silent_p.G1011G	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1047					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCAGGATACGGCCGAGTCTCT	0.527																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(3031-3033)ggC>ggT		PHD finger protein 8							158.0	117.0	131.0					X																	53965633		2203	4300	6503	SO:0001819	synonymous_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:53965633G>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.3141C>T	X.37:g.53965633G>A						PHF8_ENST00000357988.5_Silent_p.G1047G|PHF8_ENST00000338946.6_Silent_p.G910G	p.G1011G	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			22	3537	-			1047					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	c.3033C>T	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	g	9.129	1.010991	0.19277	.	.	ENSG00000172943	ENST00000396282	.	.	.	5.18	2.15	0.27550	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51411	-0.8709	4	.	.	.	-11.5221	9.1758	0.37112	0.0:0.1379:0.5724:0.2897	.	.	.	.	V	915	.	.	A	-	2	0	PHF8	53982358	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.863000	0.27913	0.472000	0.27344	-0.330000	0.08379	GCC		0.527	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		22	51	0	0	0	1	0	22	51				
SBNO1	55206	broad.mit.edu	37	12	123789129	123789129	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123789129C>A	ENST00000602398.1	-	29	3895	c.3768G>T	c.(3766-3768)aaG>aaT	p.K1256N	SBNO1_ENST00000602750.1_Splice_Site_p.K1255N|SBNO1_ENST00000267176.4_Splice_Site_p.K1255N|SBNO1_ENST00000420886.2_Splice_Site_p.K1256N			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1256					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAAAAAATACCTTCTTATATT	0.348																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.e28+1		strawberry notch homolog 1 (Drosophila)							25.0	27.0	26.0					12																	123789129		2194	4292	6486	SO:0001630	splice_region_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123789129C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3768+1G>T	12.37:g.123789129C>A						SBNO1_ENST00000267176.4_Splice_Site_p.K1255_splice|SBNO1_ENST00000602750.1_Splice_Site_p.K1255_splice|SBNO1_ENST00000602398.1_Splice_Site_p.K1256_splice	p.K1256_splice	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	28	3767	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1256					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Splice_Site	SNP	ENST00000602398.1	37	c.3768_splice	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604805	0.87157	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83163	-1.69;-1.69	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	M	0.84219	2.685	0.80722	D	1	P;P;D	0.67145	0.455;0.59;0.996	B;B;D	0.64595	0.111;0.223;0.927	D	0.90685	0.4608	9	.	.	.	-21.7595	15.9972	0.80260	0.0:0.935:0.0:0.065	.	1256;1255;367	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	N	1256;1255	ENSP00000387361:K1256N;ENSP00000267176:K1255N	.	K	-	3	2	SBNO1	122355082	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.704000	0.68347	2.941000	0.99782	0.655000	0.94253	AAG		0.348	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	Missense_Mutation	4	21	1	0	0.00909568	1	0.00947522	4	21				
TACR2	6865	broad.mit.edu	37	10	71175705	71175705	+	Silent	SNP	G	G	A	rs377267659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71175705G>A	ENST00000373306.4	-	1	918	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	125					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CAGCAATGGCGGTCATGGAGT	0.572																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(373-375)acC>acT		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)	G		0,4404		0,0,2202	45.0	45.0	45.0		375	-10.4	0.1	10		45	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	TACR2	NM_001057.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		125/399	71175705	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71175705G>A		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.375C>T	10.37:g.71175705G>A							p.T125T	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			1	918	-			125					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	c.375C>T	CCDS7293.1																																																																																				0.572	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			14	24	0	0	0	1	0	14	24				
TTLL7	79739	broad.mit.edu	37	1	84356049	84356049	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84356049A>G	ENST00000260505.8	-	19	2701	c.2324T>C	c.(2323-2325)cTc>cCc	p.L775P	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	775					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACGACTCCAGAGTAAGCGATT	0.373																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2323-2325)cTc>cCc		tubulin tyrosine ligase-like family, member 7							53.0	57.0	56.0					1																	84356049		2203	4299	6502	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84356049A>G	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2324T>C	1.37:g.84356049A>G	ENSP00000260505:p.Leu775Pro					TTLL7_ENST00000477524.1_5'UTR	p.L775P	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	19	2701	-			775					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.2324T>C	CCDS690.2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488577	0.84854	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	T	0.05025	3.51	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00619	-1.1641	10	0.87932	D	0	.	15.2351	0.73422	1.0:0.0:0.0:0.0	.	775	Q6ZT98	TTLL7_HUMAN	P	775;552	ENSP00000260505:L775P	ENSP00000260505:L775P	L	-	2	0	TTLL7	84128637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.678000	0.91211	2.054000	0.61138	0.528000	0.53228	CTC		0.373	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		5	74	0	0	0	1	0	5	74				
DNAH7	56171	broad.mit.edu	37	2	196681514	196681514	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196681514C>T	ENST00000312428.6	-	51	9699	c.9599G>A	c.(9598-9600)cGc>cAc	p.R3200H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3200					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R3200L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAGCCCATGCGGGTGGTGTC	0.438																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R3200L(1)	lung(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9598-9600)cGc>cAc		dynein, axonemal, heavy chain 7							152.0	154.0	153.0					2																	196681514		1886	4115	6001	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681514C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9599G>A	2.37:g.196681514C>T	ENSP00000311273:p.Arg3200His						p.R3200H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			51	9699	-			3200					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9599G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538723	0.85917	.	.	ENSG00000118997	ENST00000312428	T	0.54479	0.57	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90758	0.4662	10	0.87932	D	0	.	18.3163	0.90223	0.0:1.0:0.0:0.0	.	3200	Q8WXX0	DYH7_HUMAN	H	3200	ENSP00000311273:R3200H	ENSP00000311273:R3200H	R	-	2	0	DNAH7	196389759	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.651000	0.83577	2.652000	0.90054	0.591000	0.81541	CGC		0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	72	0	0	0	1	0	5	72				
SGSM2	9905	broad.mit.edu	37	17	2265508	2265508	+	Silent	SNP	G	G	T	rs148544625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2265508G>T	ENST00000426855.2	+	4	577	c.402G>T	c.(400-402)acG>acT	p.T134T	SGSM2_ENST00000574563.1_Silent_p.T134T|SGSM2_ENST00000268989.3_Silent_p.T134T	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	134	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGTACGCACGGCGCTCATCG	0.637																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(400-402)acG>acT		small G protein signaling modulator 2							88.0	90.0	89.0					17																	2265508		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2265508G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.402G>T	17.37:g.2265508G>T						SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Silent_p.T134T|SGSM2_ENST00000574563.1_Silent_p.T134T	p.T134T	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	4	579	+			134			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.402G>T	CCDS45570.1																																																																																				0.637	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		24	52	1	0	2.00529e-23	1	2.65571e-23	24	52				
CLSPN	63967	broad.mit.edu	37	1	36213593	36213593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36213593C>A	ENST00000318121.3	-	14	2599	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	CLSPN_ENST00000373220.3_Nonsense_Mutation_p.E784*|CLSPN_ENST00000251195.5_Nonsense_Mutation_p.E848*|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.E795*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	848					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCTTAGGCTCTGGGGAGGCG	0.458																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2542-2544)Gag>Tag		claspin							238.0	248.0	245.0					1																	36213593		2203	4300	6503	SO:0001587	stop_gained	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36213593C>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2542G>T	1.37:g.36213593C>A	ENSP00000312995:p.Glu848*					CLSPN_ENST00000520551.1_Nonsense_Mutation_p.E795*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.E784*|CLSPN_ENST00000318121.3_Nonsense_Mutation_p.E848*	p.E848*			Q9HAW4	CLSPN_HUMAN			14	2638	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	848					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	ENST00000318121.3	37	c.2542G>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	39	7.733343	0.98459	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	5.69	5.69	0.88448	.	0.051132	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-17.5142	19.8182	0.96579	0.0:1.0:0.0:0.0	.	.	.	.	X	848;848;784;795	.	ENSP00000251195:E848X	E	-	1	0	CLSPN	35986180	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.799000	0.55529	2.687000	0.91594	0.563000	0.77884	GAG		0.458	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		8	350	1	0	5.18039e-06	1	5.91835e-06	8	350				
GPR84	53831	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756722C>A	ENST00000551809.1	-	1	1549	c.914G>T	c.(913-915)aGa>aTa	p.R305I	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R305I			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGAGCTCTTCTGGCTCCTTT	0.507																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(913-915)aGa>aTa		G protein-coupled receptor 84							122.0	127.0	125.0					12																	54756722		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756722C>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.914G>T	12.37:g.54756722C>A	ENSP00000450310:p.Arg305Ile					GPR84_ENST00000267015.3_Missense_Mutation_p.R305I|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.R305I			Q9NQS5	GPR84_HUMAN			1	1549	-			305					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.914G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	c	2.809	-0.247504	0.05867	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.40476	1.03;1.03	4.08	-6.13	0.02118	GPCR, rhodopsin-like superfamily (1);	2.058800	0.02794	N	0.122402	T	0.29652	0.0740	L	0.34521	1.04	0.09310	N	1	B	0.20550	0.046	B	0.23275	0.045	T	0.22452	-1.0216	10	0.45353	T	0.12	0.6568	6.2275	0.20716	0.0:0.2146:0.2622:0.5232	.	305	Q9NQS5	GPR84_HUMAN	I	305	ENSP00000267015:R305I;ENSP00000450310:R305I	ENSP00000267015:R305I	R	-	2	0	GPR84	53042989	0.000000	0.05858	0.011000	0.14972	0.110000	0.19582	-2.779000	0.00774	-1.350000	0.02199	-0.974000	0.02594	AGA		0.507	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			41	80	1	0	6.27289e-28	1	8.37919e-28	41	80				
METTL2A	339175	broad.mit.edu	37	17	60504004	60504004	+	Nonsense_Mutation	SNP	C	C	T	rs546962149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60504004C>T	ENST00000311506.5	+	3	583	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCCACCTACCGAATACTGGA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18452	0.001		0.0	False		,,,				2504	0.0					ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(547-549)Cga>Tga		methyltransferase like 2A							26.0	19.0	21.0					17																	60504004		1966	4116	6082	SO:0001587	stop_gained	339175						methyltransferase activity	g.chr17:60504004C>T	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.547C>T	17.37:g.60504004C>T	ENSP00000309610:p.Arg183*						p.R183*	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		3	583	+			183					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Nonsense_Mutation	SNP	ENST00000311506.5	37	c.547C>T	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	C	37	6.327348	0.97476	.	.	ENSG00000087995	ENST00000311506	.	.	.	5.22	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0705	12.128	0.53926	0.1721:0.8279:0.0:0.0	.	.	.	.	X	183	.	ENSP00000309610:R183X	R	+	1	2	METTL2A	57857736	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.843000	0.48238	1.165000	0.42670	0.555000	0.69702	CGA		0.408	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		9	9	0	0	0	1	0	9	9				
ZNFX1	57169	broad.mit.edu	37	20	47865567	47865567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47865567G>A	ENST00000396105.1	-	14	4240	c.3994C>T	c.(3994-3996)Cgg>Tgg	p.R1332W	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1332W	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1332							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGGACACCGGTGCCCTTCC	0.552																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3994-3996)Cgg>Tgg		zinc finger, NFX1-type containing 1							131.0	122.0	125.0					20																	47865567		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865567G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3994C>T	20.37:g.47865567G>A	ENSP00000379412:p.Arg1332Trp					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1332W	p.R1332W	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4240	-			1332					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3994C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976872	0.53720	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.87256	-2.23;-2.23	6.17	5.21	0.72293	.	0.248924	0.39909	N	0.001231	D	0.94291	0.8166	M	0.88377	2.95	0.46901	D	0.999245	D	0.89917	1.0	D	0.81914	0.995	D	0.95178	0.8296	10	0.72032	D	0.01	-21.1678	15.5575	0.76208	0.0:0.0:0.8611:0.1389	.	1332	Q9P2E3	ZNFX1_HUMAN	W	1332	ENSP00000360817:R1332W;ENSP00000379412:R1332W	ENSP00000360817:R1332W	R	-	1	2	ZNFX1	47298974	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.803000	0.47924	1.575000	0.49775	0.655000	0.94253	CGG		0.552	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		44	45	0	0	0	1	0	44	45				
ASB13	79754	broad.mit.edu	37	10	5693263	5693263	+	Missense_Mutation	SNP	C	C	T	rs149846489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5693263C>T	ENST00000357700.6	-	3	321	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	99					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TTCACACACTCGATGCTGCCC	0.622																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(295-297)Gag>Aag		ankyrin repeat and SOCS box containing 13		C	LYS/GLU	0,4406		0,0,2203	57.0	49.0	52.0		295	4.6	1.0	10	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	missense	ASB13	NM_024701.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	99/279	5693263	2,13004	2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5693263C>T	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.295G>A	10.37:g.5693263C>T	ENSP00000350331:p.Glu99Lys					ASB13_ENST00000479033.1_Intron	p.E99K	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	3	321	-			99					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.295G>A	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498768	0.96355	0.0	2.33E-4	ENSG00000196372	ENST00000357700	T	0.70164	-0.46	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.047818	0.85682	D	0.000000	T	0.66528	0.2798	L	0.52905	1.665	0.80722	D	1	D;P	0.60160	0.987;0.683	P;B	0.45276	0.475;0.227	T	0.72683	-0.4219	10	0.59425	D	0.04	-21.9891	17.0209	0.86433	0.0:1.0:0.0:0.0	.	99;99	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	K	99	ENSP00000350331:E99K	ENSP00000350331:E99K	E	-	1	0	ASB13	5733269	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.600000	0.67599	2.111000	0.64477	0.561000	0.74099	GAG		0.622	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			18	26	0	0	0	1	0	18	26				
ZKSCAN5	23660	broad.mit.edu	37	7	99123670	99123670	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99123670C>A	ENST00000394170.2	+	6	1258	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P336H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P336H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GACATCAGCCCTAAGCAAAGC	0.507																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1006-1008)cCt>cAt		zinc finger with KRAB and SCAN domains 5							79.0	64.0	69.0					7																	99123670		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123670C>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1007C>A	7.37:g.99123670C>A	ENSP00000377725:p.Pro336His					ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P336H|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P336H	p.P336H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			6	1258	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		336					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1007C>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	3.738	-0.054219	0.07362	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.05447	3.44;3.44;3.44	4.64	0.808	0.18719	.	0.716055	0.12581	N	0.456394	T	0.02342	0.0072	N	0.02368	-0.58	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43426	-0.9392	10	0.42905	T	0.14	.	4.386	0.11316	0.2782:0.3291:0.3927:0.0	.	336;336	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	H	336	ENSP00000322872:P336H;ENSP00000392104:P336H;ENSP00000377725:P336H	ENSP00000322872:P336H	P	+	2	0	ZKSCAN5	98961606	0.000000	0.05858	0.291000	0.24904	0.266000	0.26442	0.096000	0.15147	0.303000	0.22785	-0.147000	0.13772	CCT		0.507	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		7	55	1	0	1.06961e-07	1	1.26574e-07	7	55				
MLLT10	8028	broad.mit.edu	37	10	22002827	22002827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22002827C>T	ENST00000307729.7	+	14	2004	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	MLLT10_ENST00000377059.3_Missense_Mutation_p.A609V|MLLT10_ENST00000446906.2_Missense_Mutation_p.A609V|MLLT10_ENST00000377072.3_Missense_Mutation_p.A625V			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	609	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTAGGAGCGCTCTCTCCC	0.483			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1873-1875)gCg>gTg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							111.0	100.0	103.0					10																	22002827		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22002827C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1826C>T	10.37:g.22002827C>T	ENSP00000307411:p.Ala609Val					MLLT10_ENST00000446906.2_Missense_Mutation_p.A609V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A609V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A609V	p.A625V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			15	2222	+			625			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1874C>T	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937209|1.937209	0.34189|0.34189	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	T;T;T;T|.	0.09817|.	2.94;2.94;2.94;2.94|.	5.73|5.73	3.74|3.74	0.42951|0.42951	.|.	0.699131|.	0.15188|.	N|.	0.275701|.	T|T	0.33411|0.33411	0.0862|0.0862	N|N	0.14661|0.14661	0.345|0.345	0.29551|0.29551	N|N	0.851351|0.851351	P;P;B;P|.	0.47841|.	0.901;0.614;0.196;0.669|.	B;B;B;B|.	0.31337|.	0.128;0.041;0.026;0.057|.	T|T	0.24728|0.24728	-1.0152|-1.0152	10|5	0.44086|.	T|.	0.13|.	.|.	16.7532|16.7532	0.85492|0.85492	0.0:0.7581:0.2419:0.0|0.0:0.7581:0.2419:0.0	.|.	304;609;609;625|.	Q5HYC6;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	V|C	625;609;609;444;609;268;267|172	ENSP00000366272:A625V;ENSP00000401406:A609V;ENSP00000307411:A609V;ENSP00000366258:A609V|.	ENSP00000307411:A609V|.	A|R	+|+	2|1	0|0	MLLT10|MLLT10	22042833|22042833	0.864000|0.864000	0.29904|0.29904	0.857000|0.857000	0.33713|0.33713	0.181000|0.181000	0.23173|0.23173	2.138000|2.138000	0.42140|0.42140	1.512000|1.512000	0.48834|0.48834	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.483	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			6	57	0	0	0	1	0	6	57				
NES	10763	broad.mit.edu	37	1	156642898	156642898	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156642898G>T	ENST00000368223.3	-	4	1214	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	361	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGTAGCAGGCAAGGGTGA	0.612																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1081-1083)cCt>cAt		nestin							42.0	53.0	49.0					1																	156642898		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642898G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1082C>A	1.37:g.156642898G>T	ENSP00000357206:p.Pro361His						p.P361H	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1214	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		361			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1082C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249141	0.59103	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86865	-2.18	4.87	3.73	0.42828	.	0.000000	0.32518	N	0.005999	D	0.87665	0.6234	M	0.64997	1.995	0.26342	N	0.977347	D	0.76494	0.999	D	0.68192	0.956	T	0.79745	-0.1674	10	0.87932	D	0	.	8.9863	0.35997	0.1215:0.0:0.8785:0.0	.	361	P48681	NEST_HUMAN	H	361	ENSP00000357206:P361H	ENSP00000255024:P361H	P	-	2	0	NES	154909522	0.595000	0.26857	0.990000	0.47175	0.978000	0.69477	2.270000	0.43355	2.262000	0.75019	0.313000	0.20887	CCT		0.612	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	75	1	0	2.0095e-06	1	2.31757e-06	7	75				
XRCC2	7516	broad.mit.edu	37	7	152357857	152357857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152357857C>T	ENST00000359321.1	-	2	135	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	17					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACCTTCAAGTCGGGCAAGGAG	0.308								Homologous recombination																														ENST00000359321.1																			0				NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(49-51)cGa>cAa	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							58.0	65.0	63.0					7																	152357857		2202	4300	6502	SO:0001583	missense	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152357857C>T	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.50G>A	7.37:g.152357857C>T	ENSP00000352271:p.Arg17Gln					XRCC2_ENST00000495707.1_5'UTR	p.R17Q	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	2	135	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	17					B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.50G>A	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583176	0.86748	.	.	ENSG00000196584	ENST00000359321	T	0.77877	-1.13	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	D	0.85691	0.5755	M	0.62723	1.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.85269	0.1055	10	0.41790	T	0.15	-10.9802	14.997	0.71439	0.0:1.0:0.0:0.0	.	17	O43543	XRCC2_HUMAN	Q	17	ENSP00000352271:R17Q	ENSP00000352271:R17Q	R	-	2	0	XRCC2	151988790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.844000	0.55873	2.307000	0.77673	0.563000	0.77884	CGA		0.308	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		33	48	0	0	0	1	0	33	48				
PRDM1	639	broad.mit.edu	37	6	106554794	106554794	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106554794C>T	ENST00000369096.4	+	7	2145	c.1911C>T	c.(1909-1911)caC>caT	p.H637H	PRDM1_ENST00000369089.3_Silent_p.H503H|PRDM1_ENST00000369091.2_Silent_p.H601H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	637					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGTCTGCCACAAGAGATTTA	0.547			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1909-1911)caC>caT		PR domain containing 1, with ZNF domain							77.0	77.0	77.0					6																	106554794		2203	4300	6503	SO:0001819	synonymous_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106554794C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1911C>T	6.37:g.106554794C>T						PRDM1_ENST00000369089.3_Silent_p.H503H|PRDM1_ENST00000369091.2_Silent_p.H601H	p.H637H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2145	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	637					B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	c.1911C>T	CCDS5054.2																																																																																				0.547	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			9	78	0	0	0	1	0	9	78				
LENG8	114823	broad.mit.edu	37	19	54969112	54969112	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54969112G>T	ENST00000326764.5	+	13	2312		c.e13-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8											breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGCTGCCCCAGGTGCAGGGCA	0.687																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.e13-1		leukocyte receptor cluster (LRC) member 8							52.0	55.0	54.0					19																	54969112		2203	4300	6503	SO:0001630	splice_region_variant	114823						protein binding	g.chr19:54969112G>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1834-1G>T	19.37:g.54969112G>T						LENG8_ENST00000376514.2_Intron		NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	13	2312	+	Ovarian(34;0.19)							B0VJY9|Q8IZ27|Q8NCX6	Splice_Site	SNP	ENST00000326764.5	37		CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703380	0.48412	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LENG8	59660924	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	8.587000	0.90810	2.582000	0.87167	0.561000	0.74099	.		0.687	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	Intron	6	49	1	0	0.00198382	1	0.00210581	6	49				
CSRNP2	81566	broad.mit.edu	37	12	51467694	51467694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51467694C>T	ENST00000228515.1	-	3	620	c.323G>A	c.(322-324)tGt>tAt	p.C108Y	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	108					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCAAACTCACAGAGTGTATA	0.537																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(322-324)tGt>tAt		cysteine-serine-rich nuclear protein 2							90.0	88.0	89.0					12																	51467694		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467694C>T	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.323G>A	12.37:g.51467694C>T	ENSP00000228515:p.Cys108Tyr						p.C108Y	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	620	-			108						Missense_Mutation	SNP	ENST00000228515.1	37	c.323G>A	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177656	0.78564	.	.	ENSG00000110925	ENST00000228515;ENST00000548206;ENST00000548981	T;T;T	0.40756	2.51;1.02;2.51	5.11	4.22	0.49857	.	0.053085	0.85682	D	0.000000	T	0.33000	0.0848	L	0.34521	1.04	0.48830	D	0.999716	B	0.02656	0.0	B	0.06405	0.002	T	0.12451	-1.0547	10	0.49607	T	0.09	-8.3796	13.0536	0.58967	0.0:0.9206:0.0:0.0794	.	108	Q9H175	CSRN2_HUMAN	Y	108;14;108	ENSP00000228515:C108Y;ENSP00000447983:C14Y;ENSP00000447657:C108Y	ENSP00000228515:C108Y	C	-	2	0	CSRNP2	49753961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.841000	0.69409	1.525000	0.49052	0.655000	0.94253	TGT		0.537	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			35	48	0	0	0	1	0	35	48				
PDXDC1	23042	broad.mit.edu	37	16	15100279	15100279	+	Missense_Mutation	SNP	G	G	A	rs367665140		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15100279G>A	ENST00000396410.4	+	6	515	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	PDXDC1_ENST00000535621.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E113K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E112K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E158K|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E125K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E49K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	140					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTATTTCCACGAAGAGGAAAG	0.343													.|||	1	0.000199681	0.0008	0.0	5008	,	,		34535	0.0		0.0	False		,,,				2504	0.0					ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(418-420)Gaa>Aaa		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)	G	LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	114.0	118.0	117.0		418	5.8	1.0	16		117	0,8594		0,0,4297	no	missense	PDXDC1	NM_015027.2	56	0,1,6493	AA,AG,GG		0.0,0.0228,0.0077	possibly-damaging	140/789	15100279	1,12987	2197	4297	6494	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15100279G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.418G>A	16.37:g.15100279G>A	ENSP00000379691:p.Glu140Lys					PDXDC1_ENST00000535621.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E113K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E49K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E158K|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E125K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E112K	p.E140K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			6	515	+			140					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.418G>A	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713235	0.89112	2.28E-4	0.0	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.38560	1.13;2.05;1.13;1.13;1.13;1.13	5.82	5.82	0.92795	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046611	0.85682	D	0.000000	T	0.54806	0.1881	M	0.66939	2.045	0.80722	D	1	P;P;P;P;P;P;P	0.51240	0.63;0.489;0.63;0.76;0.63;0.63;0.943	B;B;B;B;B;B;P	0.52514	0.075;0.066;0.051;0.106;0.118;0.075;0.701	T	0.43507	-0.9387	10	0.19590	T	0.45	-19.0766	19.1024	0.93279	0.0:0.0:1.0:0.0	.	112;49;125;140;112;140;140	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;.;PDXD1_HUMAN;.	K	125;49;140;140;112;140	ENSP00000322807:E125K;ENSP00000400310:E49K;ENSP00000437835:E140K;ENSP00000379691:E140K;ENSP00000391147:E112K;ENSP00000406703:E140K	ENSP00000322807:E125K	E	+	1	0	PDXDC1	15007780	1.000000	0.71417	0.954000	0.39281	0.958000	0.62258	8.704000	0.91351	2.765000	0.95021	0.650000	0.86243	GAA		0.343	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		28	162	0	0	0	1	0	28	162				
ECM2	1842	broad.mit.edu	37	9	95277059	95277059	+	Missense_Mutation	SNP	C	C	T	rs143789386	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277059C>T	ENST00000344604.5	-	4	1057	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R281Q	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAGCGGGGATCGAGAGGGCAT	0.612													C|||	5	0.000998403	0.0	0.0	5008	,	,		14702	0.0		0.005	False		,,,				2504	0.0					ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(907-909)cGa>cAa		extracellular matrix protein 2, female organ and adipocyte specific		C	,GLN/ARG,GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	258.0	190.0	213.0		,842,842,908	-0.4	0.0	9	dbSNP_134	213	35,8565	24.0+/-70.4	0,35,4265	yes	intron,missense,missense,missense	ECM2,CENPP	NM_001012267.1,NM_001197295.1,NM_001197296.1,NM_001393.3	,43,43,43	0,39,6464	TT,TC,CC		0.407,0.0908,0.2999	,probably-damaging,probably-damaging,probably-damaging	,281/678,281/644,303/700	95277059	39,12967	2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277059C>T	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.908G>A	9.37:g.95277059C>T	ENSP00000344758:p.Arg303Gln					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R281Q	p.R303Q	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	1057	-			303					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.908G>A	CCDS6698.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	11.80	1.747864	0.30955	9.08E-4	0.00407	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.49432	0.79;0.78	4.85	-0.431	0.12295	.	0.480687	0.20021	N	0.100916	T	0.37156	0.0993	M	0.63843	1.955	0.09310	N	1	B;B;B	0.25312	0.123;0.123;0.098	B;B;B	0.12837	0.003;0.005;0.008	T	0.20505	-1.0273	10	0.40728	T	0.16	.	6.2751	0.20977	0.0:0.5083:0.1188:0.373	.	303;281;281	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	Q	281;303	ENSP00000393971:R281Q;ENSP00000344758:R303Q	ENSP00000344758:R303Q	R	-	2	0	ECM2	94316880	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.663000	0.05299	-0.293000	0.08986	-0.165000	0.13383	CGA		0.612	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		16	29	0	0	0	1	0	16	29				
ALPK3	57538	broad.mit.edu	37	15	85406145	85406145	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85406145A>G	ENST00000258888.5	+	10	5182	c.5015A>G	c.(5014-5016)cAg>cGg	p.Q1672R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1672	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCACCATCCAGGTACTATGT	0.557																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e10+1		alpha-kinase 3							135.0	134.0	134.0					15																	85406145		2203	4299	6502	SO:0001630	splice_region_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85406145A>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5016+1A>G	15.37:g.85406145A>G							p.Q1672_splice	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	5182	+			1672			Alpha-type protein kinase.		Q9P2L6	Splice_Site	SNP	ENST00000258888.5	37	c.5016_splice	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943057	0.73672	.	.	ENSG00000136383	ENST00000258888	T	0.06294	3.32	4.54	4.54	0.55810	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.19725	0.0474	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.00294	-1.1840	10	0.72032	D	0.01	-18.5934	11.8735	0.52534	1.0:0.0:0.0:0.0	.	1672	Q96L96	ALPK3_HUMAN	R	1672	ENSP00000258888:Q1672R	ENSP00000258888:Q1672R	Q	+	2	0	ALPK3	83207149	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	8.540000	0.90641	1.892000	0.54788	0.459000	0.35465	CAG		0.557	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Missense_Mutation	9	53	0	0	0	1	0	9	53				
CERCAM	51148	broad.mit.edu	37	9	131185490	131185490	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131185490T>A	ENST00000372838.4	+	3	772	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CERCAM_ENST00000372842.1_Missense_Mutation_p.L47Q	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	125					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGATGGAGCTGAAGCAGGAA	0.547																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(139-141)cTg>cAg		cerebral endothelial cell adhesion molecule							110.0	109.0	109.0					9																	131185490		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131185490T>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.374T>A	9.37:g.131185490T>A	ENSP00000361929:p.Leu125Gln					CERCAM_ENST00000372838.4_Missense_Mutation_p.L125Q	p.L47Q			Q5T4B2	GT253_HUMAN			4	3284	+			125					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.140T>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	T	33	5.258450	0.95368	.	.	ENSG00000167123	ENST00000420034;ENST00000372842;ENST00000447915;ENST00000420512;ENST00000372838;ENST00000411852;ENST00000413863	D;D;D	0.84660	-1.88;-1.88;-1.88	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000002	D	0.92551	0.7634	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93649	0.6971	10	0.87932	D	0	-21.5717	13.6716	0.62430	0.0:0.0:0.0:1.0	.	125	Q5T4B2	GT253_HUMAN	Q	47;47;47;47;125;47;78	ENSP00000361933:L47Q;ENSP00000416676:L47Q;ENSP00000361929:L125Q	ENSP00000361929:L125Q	L	+	2	0	CERCAM	130225311	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	7.824000	0.86668	2.090000	0.63153	0.454000	0.30748	CTG		0.547	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		47	99	0	0	0	1	0	47	99				
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22162127G>A	ENST00000374695.3	-	76	10438	c.10359C>T	c.(10357-10359)atC>atT	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10357-10359)atC>atT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						36.0	35.0	35.0					1																	22162127		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22162127G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10359C>T	1.37:g.22162127G>A							p.I3453I	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	76	10438	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3453			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10359C>T	CCDS30625.1																																																																																				0.502	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	21	0	0	0	1	0	12	21				
DTNBP1	84062	broad.mit.edu	37	6	15524688	15524688	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15524688G>A	ENST00000344537.5	-	9	984				DTNBP1_ENST00000338950.5_Missense_Mutation_p.R294C|DTNBP1_ENST00000462989.2_Intron|DTNBP1_ENST00000355917.3_Intron	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1						actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TGGTTCTCACGTCTCACCTTT	0.567									Hermansky-Pudlak syndrome																													ENST00000338950.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14						c.(880-882)Cgt>Tgt		dystrobrevin binding protein 1							314.0	263.0	280.0					6																	15524688		2203	4300	6503	SO:0001627	intron_variant	84062	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15524688G>A	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.811+68C>T	6.37:g.15524688G>A						DTNBP1_ENST00000344537.5_Intron|DTNBP1_ENST00000355917.3_Intron|DTNBP1_ENST00000462989.2_Intron	p.R294C	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		9	985	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	0			Dysbindin.		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.880C>T	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	G	3.890	-0.024125	0.07634	.	.	ENSG00000047579	ENST00000338950;ENST00000543749	T	0.34472	1.36	2.31	-3.98	0.04082	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	P;P	0.48589	0.912;0.474	B;B	0.39876	0.312;0.112	T	0.13980	-1.0489	9	0.54805	T	0.06	.	4.0465	0.09774	0.2182:0.0:0.356:0.4257	.	294;294	F5GY46;Q96EV8-2	.;.	C	294	ENSP00000344718:R294C	ENSP00000344718:R294C	R	-	1	0	DTNBP1	15632667	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.779000	0.01280	-3.664000	0.00025	CGT		0.567	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		65	131	0	0	0	1	0	65	131				
HRNR	388697	broad.mit.edu	37	1	152193229	152193229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152193229C>T	ENST00000368801.2	-	3	951	c.876G>A	c.(874-876)caG>caA	p.Q292Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	292					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAAAGACTGACGGGAAC	0.602																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(874-876)caG>caA		hornerin							201.0	192.0	195.0					1																	152193229		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193229C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.876G>A	1.37:g.152193229C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q292Q	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	951	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		292					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.876G>A	CCDS30859.1																																																																																				0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		62	73	0	0	0	1	0	62	73				
TSPAN5	10098	broad.mit.edu	37	4	99403289	99403289	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99403289A>G	ENST00000305798.3	-	4	719	c.317T>C	c.(316-318)cTc>cCc	p.L106P	TSPAN5_ENST00000505184.1_Missense_Mutation_p.L35P|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	106					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCCGGCAGTGAGCTCCAGGAA	0.363																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(316-318)cTc>cCc		tetraspanin 5							79.0	81.0	80.0					4																	99403289		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99403289A>G		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.317T>C	4.37:g.99403289A>G	ENSP00000307701:p.Leu106Pro					TSPAN5_ENST00000505184.1_Missense_Mutation_p.L35P|TSPAN5_ENST00000509168.1_5'UTR	p.L106P	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	4	719	-			106					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.317T>C	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592467	0.86953	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.95189	0.8306	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	106	P62079	TSN5_HUMAN	P	106;35;35;35	ENSP00000307701:L106P;ENSP00000423916:L35P;ENSP00000423504:L35P;ENSP00000426248:L35P	ENSP00000307701:L106P	L	-	2	0	TSPAN5	99622312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.149000	0.94659	2.275000	0.75901	0.528000	0.53228	CTC		0.363	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		5	70	0	0	0	1	0	5	70				
BRPF1	7862	broad.mit.edu	37	3	9775966	9775966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9775966G>A	ENST00000457855.1	+	1	153	c.142G>A	c.(142-144)Gac>Aac	p.D48N	BRPF1_ENST00000424362.1_Missense_Mutation_p.D48N|BRPF1_ENST00000433861.2_Missense_Mutation_p.D48N|BRPF1_ENST00000302054.3_Missense_Mutation_p.D48N|BRPF1_ENST00000383829.2_Missense_Mutation_p.D48N			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	48					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTATGACCACGACAACCCACC	0.577																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(142-144)Gac>Aac		bromodomain and PHD finger containing, 1							169.0	189.0	182.0					3																	9775966		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9775966G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.142G>A	3.37:g.9775966G>A	ENSP00000410210:p.Asp48Asn					BRPF1_ENST00000433861.2_Missense_Mutation_p.D48N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D48N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D48N|BRPF1_ENST00000302054.3_Missense_Mutation_p.D48N	p.D48N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	546	+	Medulloblastoma(99;0.227)		48					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.142G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361752	0.61403	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.44881	2.2;2.17;3.57;2.18;0.91;2.18	5.62	5.62	0.85841	Zinc finger, C2H2 (1);	0.045294	0.85682	D	0.000000	T	0.31327	0.0793	L	0.38838	1.175	0.80722	D	1	P;P;P;B	0.42961	0.795;0.657;0.657;0.254	B;B;B;B	0.29267	0.1;0.094;0.094;0.013	T	0.13124	-1.0521	10	0.38643	T	0.18	.	18.4286	0.90617	0.0:0.0:1.0:0.0	.	48;48;48;48	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	N	48	ENSP00000402485:D48N;ENSP00000398863:D48N;ENSP00000373340:D48N;ENSP00000306297:D48N;ENSP00000404235:D48N;ENSP00000410210:D48N	ENSP00000306297:D48N	D	+	1	0	BRPF1	9750966	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.952000	0.93031	2.651000	0.90000	0.563000	0.77884	GAC		0.577	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		40	44	0	0	0	1	0	40	44				
ZNF836	162962	broad.mit.edu	37	19	52660166	52660166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52660166C>T	ENST00000322146.8	-	5	1291	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	ZNF836_ENST00000597252.1_Missense_Mutation_p.R257Q|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTGAGCCCCGATGAAAGGC	0.403																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(769-771)cGg>cAg		zinc finger protein 836							82.0	86.0	85.0					19																	52660166		2167	4277	6444	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52660166C>T	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.770G>A	19.37:g.52660166C>T	ENSP00000325038:p.Arg257Gln					ZNF836_ENST00000597252.1_Missense_Mutation_p.R257Q|CTC-471J1.8_ENST00000594362.1_RNA	p.R257Q	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	1291	-			257						Missense_Mutation	SNP	ENST00000322146.8	37	c.770G>A	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.554477	0.00918	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.35789	1.29	1.96	-2.34	0.06704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13756	0.0333	N	0.11131	0.1	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.34403	-0.9830	9	0.02654	T	1	.	7.244	0.26112	0.0:0.4013:0.0:0.5987	.	257	Q6ZNA1	ZN836_HUMAN	Q	257;55	ENSP00000325038:R257Q	ENSP00000325038:R257Q	R	-	2	0	ZNF836	57351978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.325000	0.07976	-0.389000	0.07786	-0.492000	0.04666	CGG		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		19	25	0	0	0	1	0	19	25				
KCNA10	3744	broad.mit.edu	37	1	111060438	111060438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060438G>A	ENST00000369771.2	-	1	1359	c.972C>T	c.(970-972)gtC>gtT	p.V324V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	324					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTGTCTCCTGGACTAGCTCTG	0.527																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(970-972)gtC>gtT		potassium voltage-gated channel, shaker-related subfamily, member 10							129.0	121.0	124.0					1																	111060438		2203	4300	6503	SO:0001819	synonymous_variant	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060438G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.972C>T	1.37:g.111060438G>A							p.V324V	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1359	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	324						Silent	SNP	ENST00000369771.2	37	c.972C>T	CCDS826.1																																																																																				0.527	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		5	100	0	0	0	1	0	5	100				
VDAC2	7417	broad.mit.edu	37	10	76980698	76980698	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76980698G>T	ENST00000332211.6	+	7	767	c.554G>T	c.(553-555)aGg>aTg	p.R185M	VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.R185M|VDAC2_ENST00000313132.4_Missense_Mutation_p.R200M|VDAC2_ENST00000535553.1_Missense_Mutation_p.R146M	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	185					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GTGGGCTACAGGACTGGGGAC	0.453																																						ENST00000535553.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10						c.(436-438)aGg>aTg		voltage-dependent anion channel 2	Dihydroxyaluminium(DB01375)						66.0	67.0	66.0					10																	76980698		2203	4300	6503	SO:0001583	missense	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76980698G>T	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.554G>T	10.37:g.76980698G>T	ENSP00000361686:p.Arg185Met					VDAC2_ENST00000332211.6_Missense_Mutation_p.R185M|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.R185M|VDAC2_ENST00000313132.4_Missense_Mutation_p.R200M	p.R146M			P45880	VDAC2_HUMAN			8	793	+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		185					Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	c.437G>T	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446552	0.84101	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.48	4.57	0.56435	.	0.045584	0.85682	D	0.000000	T	0.44993	0.1320	L	0.43152	1.355	0.42039	D	0.991063	P;P;P	0.50943	0.917;0.94;0.917	P;P;P	0.56343	0.796;0.694;0.704	T	0.44832	-0.9302	10	0.62326	D	0.03	.	5.191	0.15209	0.2809:0.0:0.7191:0.0	.	146;200;185	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	M	185;185;185;185;146;200;185	ENSP00000298468:R185M;ENSP00000443092:R185M;ENSP00000344876:R185M;ENSP00000361686:R185M;ENSP00000445901:R146M;ENSP00000361635:R200M;ENSP00000401492:R185M	ENSP00000298468:R185M	R	+	2	0	VDAC2	76650704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.111000	0.71541	2.588000	0.87417	0.563000	0.77884	AGG		0.453	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375		17	34	1	0	4.7546e-09	1	5.74312e-09	17	34				
GRHL2	79977	broad.mit.edu	37	8	102661726	102661726	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102661726C>A	ENST00000251808.3	+	14	2035	c.1697C>A	c.(1696-1698)gCg>gAg	p.A566E	GRHL2_ENST00000517674.1_Intron|GRHL2_ENST00000395927.1_Splice_Site_p.A550E	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	566					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGATGGAAGCGGTAAGCCAT	0.507																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e14+1		grainyhead-like 2 (Drosophila)							170.0	136.0	147.0					8																	102661726		2203	4300	6503	SO:0001630	splice_region_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102661726C>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1698+1C>A	8.37:g.102661726C>A						GRHL2_ENST00000395927.1_Splice_Site_p.A550_splice|GRHL2_ENST00000517674.1_Intron	p.A566_splice	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		14	2035	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		566					A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	ENST00000251808.3	37	c.1698_splice	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719963	0.68844	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12039	2.72;2.72	4.89	4.01	0.46588	.	0.052249	0.85682	D	0.000000	T	0.37812	0.1017	M	0.84511	2.7	0.80722	D	1	D	0.69078	0.997	D	0.69142	0.962	T	0.32955	-0.9887	10	0.87932	D	0	-22.7323	10.6345	0.45556	0.0:0.9089:0.0:0.0911	.	566	Q6ISB3	GRHL2_HUMAN	E	566;550;566	ENSP00000251808:A566E;ENSP00000379260:A550E	ENSP00000251808:A566E	A	+	2	0	GRHL2	102730902	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.152000	0.71812	1.281000	0.44480	-0.150000	0.13652	GCG		0.507	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Missense_Mutation	10	16	1	0	2.17888e-05	1	2.45068e-05	10	16				
USP33	23032	broad.mit.edu	37	1	78180376	78180376	+	Missense_Mutation	SNP	C	C	T	rs187221321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78180376C>T	ENST00000370793.1	-	20	2577	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	USP33_ENST00000357428.1_Missense_Mutation_p.R744Q|USP33_ENST00000370792.3_Missense_Mutation_p.R736Q|USP33_ENST00000370794.3_Missense_Mutation_p.R713Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	744	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAGCCACTGTCGAGAAATATA	0.373													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17964	0.0		0.0	False		,,,				2504	0.0				Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(2230-2232)cGa>cAa		ubiquitin specific peptidase 33		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	125.0	128.0		2231,2138,2207	4.3	1.0	1		128	0,8600		0,0,4300	no	missense,missense,missense	USP33	NM_015017.3,NM_201624.1,NM_201626.1	43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	744/943,713/912,736/829	78180376	1,13005	2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78180376C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2231G>A	1.37:g.78180376C>T	ENSP00000359829:p.Arg744Gln					USP33_ENST00000357428.1_Missense_Mutation_p.R744Q|USP33_ENST00000370792.3_Missense_Mutation_p.R736Q|USP33_ENST00000370794.3_Missense_Mutation_p.R713Q	p.R744Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			20	2577	-			744			DUSP 1.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2231G>A	CCDS678.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	27.0|27.0	4.787802|4.787802	0.90367|0.90367	2.27E-4|2.27E-4	0.0|0.0	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.10960	.|2.84;2.83;2.83;2.82	5.21|5.21	4.3|4.3	0.51218|0.51218	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24774|0.24774	0.0601|0.0601	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.80764	.|0.987;0.994;0.986;0.96	T|T	0.06935|0.06935	-1.0799|-1.0799	5|10	.|0.72032	.|D	.|0.01	.|.	14.26|14.26	0.66078|0.66078	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|736;713;744;78	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.|.;.;UBP33_HUMAN;.	N|Q	349|713;744;744;736	.|ENSP00000359830:R713Q;ENSP00000359829:R744Q;ENSP00000350009:R744Q;ENSP00000359828:R736Q	.|ENSP00000350009:R744Q	D|R	-|-	1|2	0|0	USP33|USP33	77952964|77952964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.766000|5.766000	0.68843|0.68843	1.326000|1.326000	0.45319|0.45319	-0.150000|-0.150000	0.13652|0.13652	GAC|CGA		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		37	86	0	0	0	1	0	37	86				
LRRIQ4	344657	broad.mit.edu	37	3	169540252	169540252	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540252C>T	ENST00000340806.6	+	1	543	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	181										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGTTTTCCCCCAGGAGCTCT	0.512																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(541-543)ccC>ccT		leucine-rich repeats and IQ motif containing 4							64.0	66.0	65.0					3																	169540252		1876	4110	5986	SO:0001819	synonymous_variant	344657							g.chr3:169540252C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.543C>T	3.37:g.169540252C>T							p.P181P	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	543	+			181						Silent	SNP	ENST00000340806.6	37	c.543C>T	CCDS46951.1																																																																																				0.512	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		6	69	0	0	0	1	0	6	69				
NUPR1	26471	broad.mit.edu	37	16	28549344	28549344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28549344C>T	ENST00000324873.6	-	2	511	c.245G>A	c.(244-246)cGc>cAc	p.R82H	NUPR1_ENST00000395641.2_Missense_Mutation_p.R100H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	82					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(1)	3						TCTGTCTCAGCGCCGTGCCCC	0.622																																						ENST00000324873.6																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(244-246)cGc>cAc		nuclear protein, transcriptional regulator, 1							146.0	162.0	156.0					16																	28549344		2197	4300	6497	SO:0001583	missense	26471				cell growth|induction of apoptosis	nucleus		g.chr16:28549344C>T	AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"""candidate of metastasis 1"""	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.245G>A	16.37:g.28549344C>T	ENSP00000315559:p.Arg82His					NUPR1_ENST00000395641.2_Missense_Mutation_p.R100H	p.R82H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN			2	511	-			82					B2R5C4|O60357|Q6FGG3	Missense_Mutation	SNP	ENST00000324873.6	37	c.245G>A	CCDS10634.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058099	0.55325	.	.	ENSG00000176046	ENST00000324873;ENST00000395641	.	.	.	5.4	1.25	0.21368	.	0.650327	0.13816	N	0.360776	T	0.20495	0.0493	.	.	.	0.23487	N	0.997573	P	0.42973	0.796	B	0.32289	0.143	T	0.06162	-1.0842	8	0.36615	T	0.2	.	9.5115	0.39080	0.1027:0.4264:0.4708:0.0	.	82	O60356	NUPR1_HUMAN	H	82;100	.	ENSP00000315559:R82H	R	-	2	0	NUPR1	28456845	0.999000	0.42202	0.973000	0.42090	0.905000	0.53344	1.625000	0.37029	0.092000	0.17331	-0.122000	0.15005	CGC		0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254692.2	NM_012385		10	196	0	0	0	1	0	10	196				
MAGEB3	4114	broad.mit.edu	37	X	30255066	30255066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30255066G>A	ENST00000361644.2	+	5	1762	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	342										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAGGCTAGCAGCTCTTCCCAC	0.498																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(1024-1026)aGc>aAc		melanoma antigen family B, 3							68.0	49.0	55.0					X																	30255066		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30255066G>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.1025G>A	X.37:g.30255066G>A	ENSP00000355198:p.Ser342Asn					MAGEB3_ENST00000378986.1_Missense_Mutation_p.S342N	p.S342N	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN			5	1762	+			342					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.1025G>A	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	6.615	0.481811	0.12581	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.01963	4.53;4.53	3.86	2.09	0.27110	.	.	.	.	.	T	0.01765	0.0056	N	0.25426	0.745	0.09310	N	1	B	0.15719	0.014	B	0.13407	0.009	T	0.49485	-0.8935	9	0.17369	T	0.5	.	5.532	0.16990	0.2608:0.0:0.7392:0.0	.	342	O15480	MAGB3_HUMAN	N	342	ENSP00000368271:S342N;ENSP00000355198:S342N	ENSP00000355198:S342N	S	+	2	0	MAGEB3	30164987	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.231000	0.09069	0.426000	0.26116	0.513000	0.50165	AGC		0.498	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		7	14	0	0	0	1	0	7	14				
C9orf43	257169	broad.mit.edu	37	9	116187329	116187329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116187329A>G	ENST00000288462.4	+	9	1284	c.838A>G	c.(838-840)Aag>Gag	p.K280E	C9orf43_ENST00000374165.1_Missense_Mutation_p.K280E	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	280										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAACGTTTGAAGAAATTACA	0.413																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(838-840)Aag>Gag		chromosome 9 open reading frame 43							126.0	113.0	117.0					9																	116187329		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187329A>G	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.838A>G	9.37:g.116187329A>G	ENSP00000288462:p.Lys280Glu					C9orf43_ENST00000374165.1_Missense_Mutation_p.K280E	p.K280E	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			9	1284	+			280						Missense_Mutation	SNP	ENST00000288462.4	37	c.838A>G	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203860	0.79127	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.54279	0.58;0.58	4.11	4.11	0.48088	.	0.677681	0.12926	N	0.427778	T	0.49047	0.1534	L	0.27053	0.805	0.09310	N	1	P	0.50156	0.932	P	0.51135	0.66	T	0.37619	-0.9698	10	0.72032	D	0.01	-1.5878	9.8158	0.40851	1.0:0.0:0.0:0.0	.	280	Q8TAL5	CI043_HUMAN	E	280	ENSP00000363280:K280E;ENSP00000288462:K280E	ENSP00000288462:K280E	K	+	1	0	C9orf43	115227150	0.242000	0.23868	0.012000	0.15200	0.614000	0.37383	3.729000	0.54999	2.087000	0.62958	0.455000	0.32223	AAG		0.413	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		4	62	0	0	0	1	0	4	62				
LPAR6	10161	broad.mit.edu	37	13	48986512	48986512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48986512C>A	ENST00000378434.4	-	7	1672	c.48G>T	c.(46-48)aaG>aaT	p.K16N	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.K16N	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ACAAAGTGTACTTAAAGGAGT	0.423																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(46-48)aaG>aaT		lysophosphatidic acid receptor 6							96.0	92.0	93.0					13																	48986512		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986512C>A	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.48G>T	13.37:g.48986512C>A	ENSP00000367691:p.Lys16Asn					LPAR6_ENST00000345941.2_Missense_Mutation_p.K16N|RB1_ENST00000267163.4_Intron	p.K16N	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	1672	-			16					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.48G>T	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814700	0.50527	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.37584	1.19;1.19	6.17	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	N	0.08118	0	0.47862	D	0.999537	D	0.69078	0.997	P	0.62813	0.907	T	0.06826	-1.0805	10	0.30854	T	0.27	.	9.422	0.38557	0.0:0.5865:0.0:0.4135	.	16	P43657	LPAR6_HUMAN	N	16	ENSP00000367691:K16N;ENSP00000344353:K16N	ENSP00000344353:K16N	K	-	3	2	LPAR6	47884513	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.883000	0.28200	0.433000	0.26313	-0.345000	0.07892	AAG		0.423	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		7	53	1	0	8.12818e-05	1	8.99451e-05	7	53				
SLC39A5	283375	broad.mit.edu	37	12	56629383	56629383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56629383G>T	ENST00000266980.4	+	6	1137	c.844G>T	c.(844-846)Gag>Tag	p.E282*	SLC39A5_ENST00000454355.2_Nonsense_Mutation_p.E282*|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	282					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGACTACCAGAGAAGGACCT	0.627																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(844-846)Gag>Tag		solute carrier family 39 (zinc transporter), member 5							143.0	153.0	150.0					12																	56629383		2203	4300	6503	SO:0001587	stop_gained	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629383G>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.844G>T	12.37:g.56629383G>T	ENSP00000266980:p.Glu282*					SLC39A5_ENST00000454355.2_Nonsense_Mutation_p.E282*	p.E282*	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1137	+			282					B2R808|Q8N6Y3	Nonsense_Mutation	SNP	ENST00000266980.4	37	c.844G>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598036	0.66332	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	.	.	.	3.7	3.7	0.42460	.	0.778678	0.10766	N	0.636575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-37.7745	11.2733	0.49153	0.0:0.0:1.0:0.0	.	.	.	.	X	282	.	ENSP00000266980:E282X	E	+	1	0	SLC39A5	54915650	0.977000	0.34250	0.997000	0.53966	0.325000	0.28411	2.155000	0.42301	2.372000	0.80975	0.655000	0.94253	GAG		0.627	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		18	219	1	0	3.99206e-14	1	5.08633e-14	18	219				
LPP	4026	broad.mit.edu	37	3	188592251	188592251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188592251C>T	ENST00000312675.4	+	11	2069	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	LPP_ENST00000543006.1_Missense_Mutation_p.A608V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	608					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGCCAAGGCGAGCACTGAC	0.502			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1822-1824)gCg>gTg		LIM domain containing preferred translocation partner in lipoma							103.0	95.0	98.0					3																	188592251		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188592251C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1823C>T	3.37:g.188592251C>T	ENSP00000318089:p.Ala608Val					LPP_ENST00000543006.1_Missense_Mutation_p.A608V	p.A608V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	11	2069	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	608					A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1823C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765193	0.49574	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.56275	0.47;0.47	5.79	5.79	0.91817	.	0.159795	0.56097	D	0.000031	T	0.32255	0.0823	N	0.14661	0.345	0.58432	D	0.999999	P;B	0.40638	0.725;0.396	B;B	0.30943	0.122;0.042	T	0.21008	-1.0258	10	0.10902	T	0.67	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	461;608	B7Z8W0;Q93052	.;LPP_HUMAN	V	608	ENSP00000318089:A608V;ENSP00000438891:A608V	ENSP00000318089:A608V	A	+	2	0	LPP	190074945	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	4.960000	0.63673	2.736000	0.93811	0.655000	0.94253	GCG		0.502	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		23	42	0	0	0	1	0	23	42				
LRFN4	78999	broad.mit.edu	37	11	66625589	66625589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625589T>C	ENST00000309602.4	+	1	617	c.374T>C	c.(373-375)cTc>cCc	p.L125P	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.L125P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	125						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTGCAGCACCTCATCCTCAGC	0.662																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(373-375)cTc>cCc		leucine rich repeat and fibronectin type III domain containing 4							43.0	50.0	48.0					11																	66625589		2199	4294	6493	SO:0001583	missense	78999					integral to membrane		g.chr11:66625589T>C	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.374T>C	11.37:g.66625589T>C	ENSP00000312535:p.Leu125Pro					PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.L125P	p.L125P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	617	+			125					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.374T>C	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.074737	0.55646	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	D;D	0.81908	-1.55;-1.55	4.17	4.17	0.49024	.	0.000000	0.43110	D	0.000606	D	0.93854	0.8034	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95056	0.8191	10	0.87932	D	0	.	11.4609	0.50211	0.0:0.0:0.0:1.0	.	125;125	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	P	125	ENSP00000377524:L125P;ENSP00000312535:L125P	ENSP00000312535:L125P	L	+	2	0	LRFN4	66382165	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	6.041000	0.70988	1.876000	0.54355	0.254000	0.18369	CTC		0.662	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		5	55	0	0	0	1	0	5	55				
SIGLEC8	27181	broad.mit.edu	37	19	51958020	51958020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958020C>T	ENST00000321424.3	-	5	1132	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.V247I|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.V263I|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	356					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACTTGTGATACAGGTCTTGAG	0.557																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1066-1068)Gta>Ata		sialic acid binding Ig-like lectin 8							117.0	103.0	108.0					19																	51958020		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958020C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1066G>A	19.37:g.51958020C>T	ENSP00000321077:p.Val356Ile					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.V247I|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.V263I	p.V356I	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	1132	-		all_neural(266;0.0199)	356					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1066G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	1.369	-0.586675	0.03827	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.61980	1.44;0.06;1.18	1.76	-3.52	0.04682	.	.	.	.	.	T	0.33411	0.0862	N	0.12182	0.205	0.09310	N	1	B;B;B	0.20780	0.028;0.048;0.001	B;B;B	0.14023	0.009;0.01;0.003	T	0.13415	-1.0510	9	0.19590	T	0.45	.	3.6172	0.08082	0.0:0.2305:0.4556:0.3138	.	247;263;356	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	I	247;356;263	ENSP00000389142:V247I;ENSP00000321077:V356I;ENSP00000339448:V263I	ENSP00000321077:V356I	V	-	1	0	SIGLEC8	56649832	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.379000	0.07437	-1.136000	0.02892	0.379000	0.24179	GTA		0.557	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		4	49	0	0	0	1	0	4	49				
HLX	3142	broad.mit.edu	37	1	221057895	221057895	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221057895C>T	ENST00000366903.6	+	4	2817	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	HLX_ENST00000549319.1_Missense_Mutation_p.A225V	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	439	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ttcagcagcgccagcagtctt	0.662																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1315-1317)gCc>gTc		H2.0-like homeobox							16.0	17.0	17.0					1																	221057895		2198	4292	6490	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057895C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1316C>T	1.37:g.221057895C>T	ENSP00000355870:p.Ala439Val					HLX_ENST00000549319.1_Missense_Mutation_p.A225V	p.A439V	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2817	+			439			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1316C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350861	0.41599	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91631	-2.66;-2.88	3.36	2.41	0.29592	.	1.044500	0.07667	N	0.934800	T	0.81626	0.4862	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.70011	-0.4989	10	0.30078	T	0.28	0.2204	5.8581	0.18730	0.0:0.8472:0.0:0.1528	.	439	Q14774	HLX_HUMAN	V	439;225	ENSP00000355870:A439V;ENSP00000449882:A225V	ENSP00000355870:A439V	A	+	2	0	HLX	219124518	0.000000	0.05858	0.525000	0.27900	0.073000	0.16967	-0.548000	0.06048	1.555000	0.49500	0.561000	0.74099	GCC		0.662	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		5	6	0	0	0	1	0	5	6				
IGHG1	3500	broad.mit.edu	37	14	106207954	106207954	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106207954G>A	ENST00000390548.2	-	0	848							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGAGCCGTCGGAGTCCAGCA	0.597																																						ENST00000390548.2																			0																				162.0	114.0	130.0					14																	106207954		2002	4140	6142			0							g.chr14:106207954G>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106207954G>A														0	848	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.597	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		39	110	0	0	0	1	0	39	110				
TGFBRAP1	9392	broad.mit.edu	37	2	105924279	105924279	+	Silent	SNP	G	G	A	rs371897430		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924279G>A	ENST00000393359.2	-	2	906	c.480C>T	c.(478-480)atC>atT	p.I160I	TGFBRAP1_ENST00000258449.1_Silent_p.I160I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	160	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCTTGACGATCTGCACCC	0.552																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(478-480)atC>atT		transforming growth factor, beta receptor associated protein 1		G	,	1,4405	2.1+/-5.4	0,1,2202	145.0	143.0	144.0		480,480	-3.2	1.0	2		144	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TGFBRAP1	NM_001142621.1,NM_004257.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	160/861,160/861	105924279	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924279G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.480C>T	2.37:g.105924279G>A						TGFBRAP1_ENST00000258449.1_Silent_p.I160I	p.I160I			Q8WUH2	TGFA1_HUMAN			2	906	-			160			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.480C>T	CCDS2067.1																																																																																				0.552	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		78	105	0	0	0	1	0	78	105				
CDH19	28513	broad.mit.edu	37	18	64211990	64211990	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:64211990T>C	ENST00000540086.1	-	6	1172	c.926A>G	c.(925-927)cAt>cGt	p.H309R	CDH19_ENST00000262150.2_Missense_Mutation_p.H309R	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	417	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGAGTTTCATGATTAGTAAT	0.303																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(925-927)cAt>cGt		cadherin 19, type 2							87.0	81.0	83.0					18																	64211990		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64211990T>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.926A>G	18.37:g.64211990T>C	ENSP00000439593:p.His309Arg					CDH19_ENST00000540086.1_Missense_Mutation_p.H309R	p.H309R	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			6	1218	-		Esophageal squamous(42;0.0132)	309			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.926A>G	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	5.402	0.259360	0.10239	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.50548	0.74;0.74	5.42	4.26	0.50523	Cadherin (4);Cadherin-like (1);	0.457838	0.25804	N	0.028190	T	0.16471	0.0396	N	0.00483	-1.445	0.19775	N	0.999954	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16660	-1.0395	10	0.36615	T	0.2	.	9.4423	0.38677	0.0:0.1482:0.0:0.8518	.	309;309	F5H1K0;Q9H159	.;CAD19_HUMAN	R	309;309;254	ENSP00000262150:H309R;ENSP00000439593:H309R	ENSP00000262150:H309R	H	-	2	0	CDH19	62362970	0.009000	0.17119	0.775000	0.31657	0.435000	0.31806	1.355000	0.34068	0.901000	0.36495	-0.512000	0.04463	CAT		0.303	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		9	16	0	0	0	1	0	9	16				
ZNF646	9726	broad.mit.edu	37	16	31089462	31089462	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089462G>A	ENST00000394979.2	+	1	2240	c.1817G>A	c.(1816-1818)aGa>aAa	p.R606K	ZNF646_ENST00000300850.5_Missense_Mutation_p.R606K			O15015	ZN646_HUMAN	zinc finger protein 646	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAAAATAGCAGAACAGAGACC	0.542																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1816-1818)aGa>aAa		zinc finger protein 646							130.0	121.0	124.0					16																	31089462		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089462G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1817G>A	16.37:g.31089462G>A	ENSP00000378429:p.Arg606Lys					ZNF646_ENST00000300850.5_Missense_Mutation_p.R606K	p.R606K			O15015	ZN646_HUMAN			1	2240	+			606					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1817G>A		.	.	.	.	.	.	.	.	.	.	G	2.384	-0.341507	0.05243	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08720	3.06;3.09	5.2	3.2	0.36748	.	.	.	.	.	T	0.04634	0.0126	N	0.20304	0.555	0.09310	N	0.999996	B	0.18166	0.026	B	0.16289	0.015	T	0.45789	-0.9237	9	0.14656	T	0.56	-11.6545	4.2119	0.10515	0.1836:0.0:0.5444:0.272	.	606	O15015-2	.	K	606	ENSP00000300850:R606K;ENSP00000378429:R606K	ENSP00000300850:R606K	R	+	2	0	ZNF646	30996963	0.000000	0.05858	0.763000	0.31416	0.342000	0.28953	-0.245000	0.08890	0.737000	0.32582	0.655000	0.94253	AGA		0.542	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		16	30	0	0	0	1	0	16	30				
C6orf165	154313	broad.mit.edu	37	6	88123597	88123597	+	Missense_Mutation	SNP	G	G	A	rs377042908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88123597G>A	ENST00000507897.1	+	4	345	c.262G>A	c.(262-264)Gat>Aat	p.D88N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.D88N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	88								p.D88N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTCTACTTCGATATGAATTA	0.338																																						ENST00000507897.1																			2	Substitution - Missense(2)	p.D88N(2)	large_intestine(2)	NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(262-264)Gat>Aat		chromosome 6 open reading frame 165		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	84.0		262	5.3	1.0	6		84	0,8594		0,0,4297	no	missense	C6orf165	NM_001031743.2	23	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	88/623	88123597	1,12999	2203	4297	6500	SO:0001583	missense	154313							g.chr6:88123597G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.262G>A	6.37:g.88123597G>A	ENSP00000426769:p.Asp88Asn					C6ORF165_ENST00000369562.4_Missense_Mutation_p.D88N	p.D88N			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	4	345	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	88					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.262G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066300	0.55539	2.27E-4	0.0	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.28895	1.59;1.59	5.32	5.32	0.75619	.	0.221960	0.44097	D	0.000500	T	0.33614	0.0869	M	0.81942	2.565	0.44754	D	0.997755	D;D	0.59767	0.986;0.963	P;B	0.45406	0.479;0.363	T	0.33675	-0.9859	10	0.44086	T	0.13	.	18.5957	0.91228	0.0:0.0:1.0:0.0	.	88;88	Q8IYR0;E1P509	CF165_HUMAN;.	N	88	ENSP00000358575:D88N;ENSP00000422494:D88N	ENSP00000358575:D88N	D	+	1	0	C6orf165	88180316	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	5.879000	0.69690	2.484000	0.83849	0.484000	0.47621	GAT		0.338	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		4	60	0	0	0	1	0	4	60				
C2orf71	388939	broad.mit.edu	37	2	29293713	29293713	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29293713T>C	ENST00000331664.5	-	1	3414	c.3415A>G	c.(3415-3417)Aca>Gca	p.T1139A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1139					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGGGCTGTTGAGAGTGGC	0.577																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(3415-3417)Aca>Gca		chromosome 2 open reading frame 71							35.0	42.0	40.0					2																	29293713		1961	4162	6123	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29293713T>C		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3415A>G	2.37:g.29293713T>C	ENSP00000332809:p.Thr1139Ala						p.T1139A	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	3414	-			1139						Missense_Mutation	SNP	ENST00000331664.5	37	c.3415A>G	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	4.690	0.128384	0.08981	.	.	ENSG00000179270	ENST00000331664	T	0.18657	2.2	4.21	-1.22	0.09494	.	0.732309	0.12535	N	0.460460	T	0.17280	0.0415	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24333	-1.0163	10	0.44086	T	0.13	-0.2112	4.9964	0.14242	0.0:0.3109:0.2628:0.4263	.	1139	A6NGG8	CB071_HUMAN	A	1139	ENSP00000332809:T1139A	ENSP00000332809:T1139A	T	-	1	0	C2orf71	29147217	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.206000	0.09398	-0.002000	0.14469	-0.376000	0.06991	ACA		0.577	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		17	29	0	0	0	1	0	17	29				
MS4A1	931	broad.mit.edu	37	11	60230540	60230540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60230540G>T	ENST00000534668.1	+	3	514	c.225G>T	c.(223-225)ggG>ggT	p.G75G	MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Silent_p.G75G|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Silent_p.G75G|MS4A1_ENST00000532073.1_Silent_p.G75G	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCAGCAGGGATCTATGCAC	0.517																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(223-225)ggG>ggT		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						116.0	115.0	115.0					11																	60230540		2203	4300	6503	SO:0001819	synonymous_variant	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230540G>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.225G>T	11.37:g.60230540G>T						MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Silent_p.G75G|MS4A1_ENST00000345732.4_Silent_p.G75G|MS4A1_ENST00000389939.2_Silent_p.G75G	p.G75G	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			3	514	+			75			Epitope 1.		A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	ENST00000534668.1	37	c.225G>T	CCDS31570.1																																																																																				0.517	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			11	133	1	0	1.5842e-08	1	1.90059e-08	11	133				
DAGLA	747	broad.mit.edu	37	11	61490361	61490361	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61490361T>C	ENST00000257215.5	+	4	454	c.338T>C	c.(337-339)aTc>aCc	p.I113T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	113					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ATCTACGCCATCGTGGGCATC	0.602																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(337-339)aTc>aCc		diacylglycerol lipase, alpha							257.0	169.0	198.0					11																	61490361		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61490361T>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.338T>C	11.37:g.61490361T>C	ENSP00000257215:p.Ile113Thr						p.I113T	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	4	454	+			113					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.338T>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143046	0.57044	.	.	ENSG00000134780	ENST00000257215	T	0.25749	1.78	5.01	5.01	0.66863	.	0.061993	0.64402	D	0.000004	T	0.20210	0.0486	L	0.28400	0.85	0.53688	D	0.99997	B	0.33694	0.421	B	0.30646	0.118	T	0.03910	-1.0993	10	0.45353	T	0.12	-37.078	15.0401	0.71785	0.0:0.0:0.0:1.0	.	113	Q9Y4D2	DGLA_HUMAN	T	113	ENSP00000257215:I113T	ENSP00000257215:I113T	I	+	2	0	DAGLA	61246937	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.267000	0.78462	2.027000	0.59764	0.459000	0.35465	ATC		0.602	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	86	0	0	0	1	0	5	86				
FRMPD4	9758	broad.mit.edu	37	X	12701657	12701657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12701657C>A	ENST00000380682.1	+	6	1030	c.524C>A	c.(523-525)cCt>cAt	p.P175H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	175					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGTCCAATCCTGTCAAAGTA	0.413																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(523-525)cCt>cAt		FERM and PDZ domain containing 4							128.0	97.0	107.0					X																	12701657		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12701657C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.524C>A	X.37:g.12701657C>A	ENSP00000370057:p.Pro175His						p.P175H	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			6	1030	+			175					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.524C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737446	0.89482	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08720	3.06	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.67397	2.05	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01298	-1.1392	10	0.87932	D	0	-4.0154	18.4714	0.90776	0.0:1.0:0.0:0.0	.	167;175	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	H	175;166;164	ENSP00000370057:P175H	ENSP00000304583:P164H	P	+	2	0	FRMPD4	12611578	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.370000	0.79589	2.390000	0.81377	0.600000	0.82982	CCT		0.413	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		26	32	1	0	1.32181e-22	1	1.74568e-22	26	32				
WSCD2	9671	broad.mit.edu	37	12	108618605	108618605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108618605G>A	ENST00000332082.4	+	6	1590	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	WSCD2_ENST00000547525.1_Missense_Mutation_p.V258M|WSCD2_ENST00000549903.1_Missense_Mutation_p.V258M|WSCD2_ENST00000261400.3_Missense_Mutation_p.V258M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	258	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACATGTCTGTGGACAAATG	0.587																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(772-774)Gtg>Atg		WSC domain containing 2							71.0	70.0	70.0					12																	108618605		1988	4182	6170	SO:0001583	missense	9671					integral to membrane		g.chr12:108618605G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.772G>A	12.37:g.108618605G>A	ENSP00000331933:p.Val258Met					WSCD2_ENST00000261400.3_Missense_Mutation_p.V258M|WSCD2_ENST00000547525.1_Missense_Mutation_p.V258M|WSCD2_ENST00000549903.1_Missense_Mutation_p.V258M	p.V258M			Q2TBF2	WSCD2_HUMAN			6	1590	+			258			WSC 2.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.772G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008251	0.93346	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.39	5.39	0.77823	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.74115	-0.3769	10	0.66056	D	0.02	-42.4114	17.8977	0.88893	0.0:0.0:1.0:0.0	.	258;258	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	M	258;258;105;258;258	ENSP00000448047:V258M;ENSP00000261400:V258M;ENSP00000446744:V105M;ENSP00000331933:V258M;ENSP00000447272:V258M	ENSP00000261400:V258M	V	+	1	0	WSCD2	107142735	1.000000	0.71417	0.973000	0.42090	0.825000	0.46686	7.687000	0.84139	2.804000	0.96469	0.655000	0.94253	GTG		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		6	63	0	0	0	1	0	6	63				
ZNF578	147660	broad.mit.edu	37	19	53007958	53007958	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53007958G>T	ENST00000421239.2	+	5	358	c.114G>T	c.(112-114)tgG>tgT	p.W38C		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGCAGAGTGGAAATTCCTGA	0.458																																						ENST00000421239.2																			0											c.(112-114)tgG>tgT		zinc finger protein 578							120.0	130.0	127.0					19																	53007958		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53007958G>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.114G>T	19.37:g.53007958G>T	ENSP00000459216:p.Trp38Cys						p.W38C	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	358	+			0					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.114G>T	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	5.386	0.256533	0.10185	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.35	1.35	0.21983	.	.	.	.	.	T	0.80093	0.4560	H	0.96662	3.86	0.36724	D	0.881336	D	0.61697	0.99	P	0.57548	0.823	D	0.83688	0.0175	7	.	.	.	.	7.7487	0.28883	0.0:0.0:1.0:0.0	.	38	G3V4F6	.	C	38	.	.	W	+	3	0	ZNF578	57699770	0.992000	0.36948	0.283000	0.24790	0.011000	0.07611	3.480000	0.53172	0.729000	0.32403	0.306000	0.20318	TGG		0.458	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		54	97	1	0	2.76378e-25	1	3.67279e-25	54	97				
LRFN2	57497	broad.mit.edu	37	6	40400646	40400646	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40400646G>A	ENST00000338305.6	-	2	749	c.207C>T	c.(205-207)cgC>cgT	p.R69R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	69						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAAGTCCTGGCGGCTGATGT	0.612																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(205-207)cgC>cgT		leucine rich repeat and fibronectin type III domain containing 2							58.0	55.0	56.0					6																	40400646		2203	4300	6503	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400646G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.207C>T	6.37:g.40400646G>A							p.R69R	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	749	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		69					A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.207C>T	CCDS34443.1																																																																																				0.612	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		20	27	0	0	0	1	0	20	27				
BFSP1	631	broad.mit.edu	37	20	17505504	17505504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17505504G>A	ENST00000377873.3	-	2	466	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	BFSP1_ENST00000536626.1_Missense_Mutation_p.R4W|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_Missense_Mutation_p.R4W|BFSP1_ENST00000377868.2_Missense_Mutation_p.R18W	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	143	Coil 1B.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTGTTAAGCCGTTCAAGCATT	0.423																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(427-429)Cgg>Tgg		beaded filament structural protein 1, filensin							253.0	193.0	214.0					20																	17505504		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17505504G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.427C>T	20.37:g.17505504G>A	ENSP00000367104:p.Arg143Trp					BFSP1_ENST00000544874.1_Missense_Mutation_p.R4W|BFSP1_ENST00000536626.1_Missense_Mutation_p.R4W|BFSP1_ENST00000377868.2_Missense_Mutation_p.R18W|BFSP1_ENST00000473415.1_5'UTR	p.R143W	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			2	466	-			143			Coil 1B.|Rod.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.427C>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886619	0.72410	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.89123	-2.47;1.33;1.33;1.33	5.21	4.25	0.50352	Filament (1);	0.520018	0.22078	N	0.064926	D	0.92348	0.7572	L	0.53249	1.67	0.44762	D	0.99776	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.92586	0.6079	10	0.87932	D	0	-20.8724	12.5567	0.56257	0.0:0.0:0.8333:0.1667	.	18;143	Q12934-2;Q12934	.;BFSP1_HUMAN	W	143;18;4;4	ENSP00000367104:R143W;ENSP00000367099:R18W;ENSP00000442522:R4W;ENSP00000439870:R4W	ENSP00000367099:R18W	R	-	1	2	BFSP1	17453504	1.000000	0.71417	0.397000	0.26308	0.937000	0.57800	4.618000	0.61211	1.314000	0.45095	0.557000	0.71058	CGG		0.423	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		46	77	0	0	0	1	0	46	77				
ABCC2	1244	broad.mit.edu	37	10	101560197	101560197	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101560197C>A	ENST00000370449.4	+	9	1199	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	362	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTGGATATCTCTGTGCAATCC	0.448																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1084-1086)ctC>ctA		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						384.0	352.0	363.0					10																	101560197		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101560197C>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1086C>A	10.37:g.101560197C>A							p.L362L	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	9	1199	+		Colorectal(252;0.234)	362			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.1086C>A	CCDS7484.1																																																																																				0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		96	204	1	0	1.43697e-34	1	1.9324e-34	96	204				
CDC20	991	broad.mit.edu	37	1	43824890	43824890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43824890G>A	ENST00000372462.1	+	1	207	c.4G>A	c.(4-6)Gca>Aca	p.A2T	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.A2T			Q12834	CDC20_HUMAN	cell division cycle 20	2					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCTCCCATGGCACAGTTCGC	0.652																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(4-6)Gca>Aca		cell division cycle 20							53.0	61.0	58.0					1																	43824890		2203	4298	6501	SO:0001583	missense	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43824890G>A	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.4G>A	1.37:g.43824890G>A	ENSP00000361540:p.Ala2Thr					CDC20_ENST00000310955.6_Missense_Mutation_p.A2T	p.A2T			Q12834	CDC20_HUMAN			1	207	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	2					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.4G>A	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988278	0.74589	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.58210	0.35;0.35	5.93	3.98	0.46160	.	0.153645	0.56097	D	0.000022	T	0.53174	0.1780	L	0.59436	1.845	0.49915	D	0.999833	P	0.47677	0.899	B	0.43478	0.421	T	0.58567	-0.7614	10	0.72032	D	0.01	-15.9279	15.0739	0.72063	0.0:0.0:0.741:0.259	.	2	Q12834	CDC20_HUMAN	T	2	ENSP00000308450:A2T;ENSP00000361540:A2T	ENSP00000308450:A2T	A	+	1	0	CDC20	43597477	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	3.607000	0.54102	0.752000	0.32923	0.655000	0.94253	GCA		0.652	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		30	46	0	0	0	1	0	30	46				
ADNP2	22850	broad.mit.edu	37	18	77894587	77894587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77894587C>T	ENST00000262198.4	+	4	1746	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	431					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGGGTCCTGCAGGCTGTCTC	0.632																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1291-1293)Cag>Tag		ADNP homeobox 2							53.0	55.0	54.0					18																	77894587		2203	4300	6503	SO:0001587	stop_gained	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77894587C>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1291C>T	18.37:g.77894587C>T	ENSP00000262198:p.Gln431*						p.Q431*	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	1746	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	431					A8K951|O94943|Q9H9P3	Nonsense_Mutation	SNP	ENST00000262198.4	37	c.1291C>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	39	7.428987	0.98279	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.13	5.13	0.70059	.	0.000000	0.41097	D	0.000944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.4519	13.9654	0.64205	0.0:1.0:0.0:0.0	.	.	.	.	X	431	.	.	Q	+	1	0	ADNP2	75995578	0.996000	0.38824	0.995000	0.50966	0.466000	0.32739	3.024000	0.49674	2.662000	0.90505	0.650000	0.86243	CAG		0.632	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		16	39	0	0	0	1	0	16	39				
FLT3	2322	broad.mit.edu	37	13	28608053	28608053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28608053G>A	ENST00000241453.7	-	15	1994	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L	FLT3_ENST00000537084.1_Missense_Mutation_p.S638L|FLT3_ENST00000380982.4_Missense_Mutation_p.S638L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	638	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACCTGGATTGAGACTCCTGT	0.453			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1912-1914)tCa>tTa		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						267.0	237.0	247.0					13																	28608053		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608053G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1913C>T	13.37:g.28608053G>A	ENSP00000241453:p.Ser638Leu					FLT3_ENST00000241453.7_Missense_Mutation_p.S638L|FLT3_ENST00000537084.1_Missense_Mutation_p.S638L	p.S638L			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1994	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	638			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1913C>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568167	0.86439	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89617	-2.54;-2.54;-2.54	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000025	D	0.91081	0.7193	N	0.25485	0.75	0.58432	D	0.999991	D;P	0.89917	1.0;0.829	D;P	0.80764	0.994;0.601	D	0.90011	0.4121	10	0.35671	T	0.21	.	19.8635	0.96793	0.0:0.0:1.0:0.0	.	638;638	P36888-2;P36888	.;FLT3_HUMAN	L	638	ENSP00000241453:S638L;ENSP00000370369:S638L;ENSP00000438139:S638L	ENSP00000241453:S638L	S	-	2	0	FLT3	27506053	1.000000	0.71417	0.962000	0.40283	0.939000	0.58152	7.265000	0.78442	2.700000	0.92200	0.650000	0.86243	TCA		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			59	136	0	0	0	1	0	59	136				
SATB1	6304	broad.mit.edu	37	3	18419766	18419766	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18419766T>C	ENST00000338745.6	-	9	3205	c.1471A>G	c.(1471-1473)Acc>Gcc	p.T491A	SATB1_ENST00000417717.2_Missense_Mutation_p.T491A|SATB1_ENST00000454909.2_Missense_Mutation_p.T491A|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	491					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTCATGGTATTGTTCTCT	0.388																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1471-1473)Acc>Gcc		SATB homeobox 1							223.0	218.0	220.0					3																	18419766		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18419766T>C		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1471A>G	3.37:g.18419766T>C	ENSP00000341024:p.Thr491Ala					TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.T491A|SATB1_ENST00000417717.2_Missense_Mutation_p.T491A	p.T491A	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			9	3205	-			491					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.1471A>G	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	9.773	1.173184	0.21704	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.41758	0.99;0.99;0.99	5.45	4.28	0.50868	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.327612	0.37095	N	0.002252	T	0.19725	0.0474	N	0.08118	0	0.80722	D	1	B;B	0.19200	0.002;0.034	B;B	0.29440	0.003;0.102	T	0.10847	-1.0612	10	0.06236	T	0.91	-18.3184	7.7791	0.29054	0.1339:0.0736:0.0:0.7925	.	491;491	Q01826-2;Q01826	.;SATB1_HUMAN	A	491	ENSP00000341024:T491A;ENSP00000399708:T491A;ENSP00000399518:T491A	ENSP00000341024:T491A	T	-	1	0	SATB1	18394770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.382000	0.44345	2.183000	0.69458	0.528000	0.53228	ACC		0.388	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		15	212	0	0	0	1	0	15	212				
ITPR2	3709	broad.mit.edu	37	12	26648141	26648141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26648141C>T	ENST00000381340.3	-	38	5542	c.5126G>A	c.(5125-5127)aGt>aAt	p.S1709N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1709					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACACCAATACTATAATCACC	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5125-5127)aGt>aAt		inositol 1,4,5-trisphosphate receptor, type 2							142.0	130.0	134.0					12																	26648141		1863	4099	5962	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26648141C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5126G>A	12.37:g.26648141C>T	ENSP00000370744:p.Ser1709Asn						p.S1709N	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			38	5542	-	Colorectal(261;0.0847)		1709					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5126G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	1.991	-0.431688	0.04669	.	.	ENSG00000123104	ENST00000381340	D	0.90004	-2.6	4.63	3.74	0.42951	.	0.511744	0.19884	N	0.103900	T	0.79417	0.4442	N	0.20685	0.6	0.80722	D	1	B	0.19200	0.034	B	0.17433	0.018	T	0.71227	-0.4655	10	0.15952	T	0.53	.	11.9961	0.53204	0.0:0.9177:0.0:0.0823	.	1709	Q14571	ITPR2_HUMAN	N	1709	ENSP00000370744:S1709N	ENSP00000370744:S1709N	S	-	2	0	ITPR2	26539408	0.991000	0.36638	0.007000	0.13788	0.032000	0.12392	3.023000	0.49666	1.261000	0.44149	-0.216000	0.12614	AGT		0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		28	42	0	0	0	1	0	28	42				
TLL2	7093	broad.mit.edu	37	10	98146790	98146790	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98146790C>T	ENST00000357947.3	-	14	1997	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	591	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). {ECO:0000305}.	cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTCACACAGCGATGCTCGCA	0.592																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1771-1773)cGc>cAc		tolloid-like 2							107.0	83.0	91.0					10																	98146790		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98146790C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1772G>A	10.37:g.98146790C>T	ENSP00000350630:p.Arg591His						p.R591H	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	14	1997	-		Colorectal(252;0.0846)	591	EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).		EGF-like 1; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1772G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415940	0.42817	.	.	ENSG00000095587	ENST00000357947	D	0.96334	-3.98	4.43	3.52	0.40303	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.146280	0.31821	N	0.007015	D	0.92034	0.7476	L	0.39692	1.235	0.38264	D	0.941975	B	0.17667	0.023	B	0.19391	0.025	D	0.87504	0.2435	10	0.21540	T	0.41	.	8.304	0.32032	0.0:0.7982:0.0:0.2018	.	591	Q9Y6L7	TLL2_HUMAN	H	591	ENSP00000350630:R591H	ENSP00000350630:R591H	R	-	2	0	TLL2	98136780	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	3.209000	0.51122	1.218000	0.43458	0.491000	0.48974	CGC		0.592	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			17	22	0	0	0	1	0	17	22				
FBN3	84467	broad.mit.edu	37	19	8211083	8211083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8211083C>A	ENST00000600128.1	-	4	691	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	FBN3_ENST00000601739.1_Missense_Mutation_p.G93C|FBN3_ENST00000270509.2_Missense_Mutation_p.G93C			Q75N90	FBN3_HUMAN	fibrillin 3	93						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCAGAAGCCTTCACCGCAG	0.687																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(277-279)Ggc>Tgc		fibrillin 3							32.0	31.0	31.0					19																	8211083		2197	4297	6494	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8211083C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.277G>T	19.37:g.8211083C>A	ENSP00000470498:p.Gly93Cys					FBN3_ENST00000270509.2_Missense_Mutation_p.G93C|FBN3_ENST00000601739.1_Missense_Mutation_p.G93C	p.G93C			Q75N90	FBN3_HUMAN			4	691	-			93					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.277G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887217	0.52014	.	.	ENSG00000142449	ENST00000270509	D	0.94687	-3.49	4.1	4.1	0.47936	.	0.149947	0.43579	U	0.000555	D	0.98131	0.9383	H	0.98111	4.15	0.50171	D	0.99985	D	0.89917	1.0	D	0.97110	1.0	D	0.98389	1.0562	10	0.59425	D	0.04	.	11.8118	0.52188	0.0:1.0:0.0:0.0	.	93	Q75N90	FBN3_HUMAN	C	93	ENSP00000270509:G93C	ENSP00000270509:G93C	G	-	1	0	FBN3	8117083	1.000000	0.71417	0.854000	0.33618	0.045000	0.14185	4.784000	0.62411	1.843000	0.53566	0.313000	0.20887	GGC		0.687	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	3	1	0	0.00116845	1	0.00124821	5	3				
ZNF281	23528	broad.mit.edu	37	1	200377356	200377356	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377356T>G	ENST00000294740.3	-	2	1602	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	ZNF281_ENST00000367353.1_Missense_Mutation_p.K493T|ZNF281_ENST00000367352.3_Missense_Mutation_p.K457T	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	493					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGACAAGGATTTCTGTCCTAC	0.393																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1477-1479)aAa>aCa		zinc finger protein 281							93.0	88.0	90.0					1																	200377356		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377356T>G	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1478A>C	1.37:g.200377356T>G	ENSP00000294740:p.Lys493Thr					ZNF281_ENST00000367353.1_Missense_Mutation_p.K493T|ZNF281_ENST00000367352.3_Missense_Mutation_p.K457T	p.K493T	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1602	-			493					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1478A>C	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.230252	0.39399	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.41400	1.0;1.0;1.0	5.64	5.64	0.86602	.	0.049168	0.85682	D	0.000000	T	0.49133	0.1539	L	0.59436	1.845	0.42723	D	0.993689	D;P	0.53151	0.958;0.9	P;P	0.47705	0.555;0.457	T	0.54970	-0.8213	10	0.72032	D	0.01	-3.0308	15.8639	0.79047	0.0:0.0:0.0:1.0	.	457;493	A6NF48;Q9Y2X9	.;ZN281_HUMAN	T	493;493;457;198	ENSP00000294740:K493T;ENSP00000356322:K493T;ENSP00000356321:K457T	ENSP00000294740:K493T	K	-	2	0	ZNF281	198643979	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.254000	0.78329	2.138000	0.66242	0.533000	0.62120	AAA		0.393	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		5	93	0	0	0	1	0	5	93				
FAM216A	29902	broad.mit.edu	37	12	110922992	110922992	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110922992G>A	ENST00000377673.5	+	3	806	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	98																	TGATGGAGGCGTCCTTTTTCA	0.393																																						ENST00000377673.5																			0											c.(292-294)gcG>gcA		family with sequence similarity 216, member A							94.0	91.0	92.0					12																	110922992		2203	4300	6503	SO:0001819	synonymous_variant	29902							g.chr12:110922992G>A	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.294G>A	12.37:g.110922992G>A							p.A98A	NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN			3	806	+			98					A6NH30|Q99776	Silent	SNP	ENST00000377673.5	37	c.294G>A	CCDS31899.1																																																																																				0.393	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		11	88	0	0	0	1	0	11	88				
OASL	8638	broad.mit.edu	37	12	121461900	121461900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461900C>A	ENST00000257570.5	-	5	1210	c.940G>T	c.(940-942)Gca>Tca	p.A314S	OASL_ENST00000339275.5_Missense_Mutation_p.G233V	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	314					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCCTTCTGCCACGTTGAGG	0.557																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(940-942)Gca>Tca		2'-5'-oligoadenylate synthetase-like							119.0	93.0	102.0					12																	121461900		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121461900C>A	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.940G>T	12.37:g.121461900C>A	ENSP00000257570:p.Ala314Ser					OASL_ENST00000339275.5_Missense_Mutation_p.G233V	p.A314S	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			5	1210	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		314					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.940G>T	CCDS9211.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.266923|3.266923	0.59540|0.59540	.|.	.|.	ENSG00000135114|ENSG00000135114	ENST00000257570;ENST00000543677|ENST00000339275	T|T	0.46819|0.11821	0.86|2.74	5.74|5.74	5.74|5.74	0.90152|0.90152	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	0.401315|.	0.20863|.	N|.	0.084309|.	T|T	0.35856|0.35856	0.0946|0.0946	.|.	.|.	.|.	0.43412|0.43412	D|D	0.995559|0.995559	D|D	0.63880|0.64830	0.993|0.994	D|P	0.63192|0.61874	0.912|0.895	T|T	0.04307|0.04307	-1.0961|-1.0961	9|8	0.72032|0.87932	D|D	0.01|0	-27.4934|-27.4934	15.4358|15.4358	0.75146|0.75146	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	314|233	Q15646|Q15646-2	OASL_HUMAN|.	S|V	314;131|233	ENSP00000257570:A314S|ENSP00000341125:G233V	ENSP00000257570:A314S|ENSP00000341125:G233V	A|G	-|-	1|2	0|0	OASL|OASL	119946283|119946283	0.997000|0.997000	0.39634|0.39634	0.931000|0.931000	0.37212|0.37212	0.820000|0.820000	0.46376|0.46376	4.535000|4.535000	0.60629|0.60629	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.557	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		14	36	1	0	6.72482e-11	1	8.32712e-11	14	36				
GPR110	266977	broad.mit.edu	37	6	46976733	46976733	+	Missense_Mutation	SNP	T	T	C	rs374690250		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46976733T>C	ENST00000371253.2	-	11	2653	c.2438A>G	c.(2437-2439)gAc>gGc	p.D813G	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.D616G	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	813					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATTCTGGCTGTCCACTATTGT	0.473																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2437-2439)gAc>gGc		G protein-coupled receptor 110		T	GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	56.0	59.0	58.0		2438	5.9	0.7	6		58	0,8600		0,0,4300	no	missense	GPR110	NM_153840.2	94	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	813/911	46976733	1,13005	2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46976733T>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2438A>G	6.37:g.46976733T>C	ENSP00000360299:p.Asp813Gly					GPR110_ENST00000283297.5_Missense_Mutation_p.D616G|GPR110_ENST00000449332.2_5'UTR	p.D813G	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	2653	-			813					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.2438A>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579616	0.46006	2.27E-4	0.0	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.42513	0.97;0.97	5.9	5.9	0.94986	GPCR, family 2-like (1);	0.187058	0.37437	N	0.002086	T	0.29423	0.0733	L	0.42686	1.345	0.09310	N	1	P	0.50819	0.939	P	0.48770	0.589	T	0.20505	-1.0273	10	0.62326	D	0.03	-19.6974	11.7228	0.51691	0.0:0.0:0.2697:0.7302	.	813	Q5T601	GP110_HUMAN	G	813;616	ENSP00000360299:D813G;ENSP00000283297:D616G	ENSP00000283297:D616G	D	-	2	0	GPR110	47084692	0.009000	0.17119	0.673000	0.29887	0.826000	0.46750	1.808000	0.38912	2.251000	0.74343	0.528000	0.53228	GAC		0.473	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		18	31	0	0	0	1	0	18	31				
ATP13A1	57130	broad.mit.edu	37	19	19770598	19770598	+	Silent	SNP	G	G	A	rs376339960	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19770598G>A	ENST00000357324.6	-	3	515	c.489C>T	c.(487-489)ggC>ggT	p.G163G	ATP13A1_ENST00000291503.5_Silent_p.G45G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	163						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCGTCTTCGCCCTGCGGTA	0.587													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15097	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(487-489)ggC>ggT		ATPase type 13A1		G		3,4403	6.2+/-15.9	0,3,2200	42.0	41.0	41.0		489	-8.7	0.6	19		41	0,8600		0,0,4300	no	coding-synonymous	ATP13A1	NM_020410.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		163/1205	19770598	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19770598G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.489C>T	19.37:g.19770598G>A						ATP13A1_ENST00000291503.5_Silent_p.G45G	p.G163G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			3	515	-			163					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.489C>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.387680	0.01194	6.81E-4	0.0	ENSG00000105726	ENST00000455627	.	.	.	4.37	-8.74	0.00838	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39921	-0.9590	4	.	.	.	-11.7867	3.1904	0.06615	0.545:0.0907:0.1373:0.227	.	.	.	.	V	82	.	.	A	-	2	0	ATP13A1	19631598	0.000000	0.05858	0.617000	0.29091	0.102000	0.19082	-3.869000	0.00346	-1.948000	0.01033	-0.782000	0.03352	GCG		0.587	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		10	12	0	0	0	1	0	10	12				
GLOD4	51031	broad.mit.edu	37	17	674702	674702	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:674702C>T	ENST00000301328.5	-	6	475		c.e6-1		GLOD4_ENST00000536578.1_Splice_Site|GLOD4_ENST00000301329.6_Splice_Site			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		aatacaggatctgttgggtaa	0.313																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.e5-1		glyoxalase domain containing 4							102.0	109.0	107.0					17																	674702		2203	4300	6503	SO:0001630	splice_region_variant	51031					mitochondrion		g.chr17:674702C>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.452-1G>A	17.37:g.674702C>T						GLOD4_ENST00000301328.5_Splice_Site|GLOD4_ENST00000536578.1_Splice_Site		NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	5	492	-								D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Splice_Site	SNP	ENST00000301328.5	37																																																																																						0.313	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080	Intron	46	65	0	0	0	1	0	46	65				
BMP1	649	broad.mit.edu	37	8	22054225	22054225	+	Missense_Mutation	SNP	G	G	A	rs371549770		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22054225G>A	ENST00000306385.5	+	14	2468	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	BMP1_ENST00000306349.8_Missense_Mutation_p.G600S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G600S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	600	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAGCTCAACGGCTCCATCAC	0.647																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1798-1800)Ggc>Agc		bone morphogenetic protein 1		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	58.0	54.0	56.0		1798,1798	5.7	1.0	8		56	0,8600		0,0,4300	no	missense,missense	BMP1	NM_001199.3,NM_006129.4	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	600/731,600/987	22054225	1,13005	2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054225G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1798G>A	8.37:g.22054225G>A	ENSP00000305714:p.Gly600Ser					BMP1_ENST00000397816.3_Missense_Mutation_p.G600S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G600S	p.G600S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	14	2468	+			600			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1798G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	36	5.845093	0.97016	2.27E-4	0.0	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.50277	0.75;0.75;0.75	5.65	5.65	0.86999	CUB (5);	0.000000	0.35772	U	0.002998	T	0.74824	0.3767	M	0.88031	2.925	0.80722	D	1	D;D;D;D	0.89917	0.961;0.997;0.995;1.0	D;D;P;D	0.76575	0.935;0.93;0.893;0.988	T	0.79264	-0.1875	10	0.72032	D	0.01	.	18.4919	0.90851	0.0:0.0:1.0:0.0	.	600;673;600;600	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	600	ENSP00000305714:G600S;ENSP00000380917:G600S;ENSP00000306121:G600S	ENSP00000306121:G600S	G	+	1	0	BMP1	22110170	1.000000	0.71417	0.989000	0.46669	0.901000	0.52897	9.860000	0.99555	2.671000	0.90904	0.462000	0.41574	GGC		0.647	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		17	29	0	0	0	1	0	17	29				
LRP1	4035	broad.mit.edu	37	12	57556241	57556241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57556241C>A	ENST00000243077.3	+	14	2810	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	782					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGACCCTTCTGCGCAGTGA	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2344-2346)Ctg>Atg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						121.0	103.0	109.0					12																	57556241		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556241C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2344C>A	12.37:g.57556241C>A	ENSP00000243077:p.Leu782Met						p.L782M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2810	+			782					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2344C>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.615010	0.46631	.	.	ENSG00000123384	ENST00000243077	D	0.90844	-2.74	4.87	3.05	0.35203	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	D	0.000086	D	0.93959	0.8066	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.92323	0.5867	10	0.48119	T	0.1	.	8.1992	0.31415	0.0:0.7398:0.0:0.2602	.	782	Q07954	LRP1_HUMAN	M	782	ENSP00000243077:L782M	ENSP00000243077:L782M	L	+	1	2	LRP1	55842508	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	3.062000	0.49971	0.780000	0.33566	0.563000	0.77884	CTG		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		29	48	1	0	4.22769e-11	1	5.25533e-11	29	48				
MYO1C	4641	broad.mit.edu	37	17	1380819	1380819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380819C>T	ENST00000575158.1	-	14	1625	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	MYO1C_ENST00000361007.2_Silent_p.K483K|MYO1C_ENST00000438665.2_Silent_p.K499K|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Silent_p.K518K|MYO1C_ENST00000545534.2_Silent_p.K494K			Q12965	MYO1E_HUMAN	myosin IC	490	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGATGGTGCTTGACAGTAT	0.657																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1552-1554)aaG>aaA		myosin IC							56.0	44.0	48.0					17																	1380819		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1380819C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1449G>A	17.37:g.1380819C>T						MYO1C_ENST00000545534.2_Silent_p.K494K|MYO1C_ENST00000361007.2_Silent_p.K483K|MYO1C_ENST00000438665.2_Silent_p.K499K|MYO1C_ENST00000575158.1_Silent_p.K483K	p.K518K	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	14	1878	-			518			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1554G>A	CCDS11003.1																																																																																				0.657	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			16	15	0	0	0	1	0	16	15				
GAREM	64762	broad.mit.edu	37	18	29972987	29972987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29972987C>A	ENST00000269209.6	-	2	136	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	GAREM_ENST00000399218.4_Nonsense_Mutation_p.E45*			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	45	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CGCAGCCCTTCTACGCACTCT	0.423																																						ENST00000399218.4																			0											c.(133-135)Gaa>Taa		GRB2 associated, regulator of MAPK1							105.0	92.0	97.0					18																	29972987		2203	4300	6503	SO:0001587	stop_gained	64762							g.chr18:29972987C>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.133G>T	18.37:g.29972987C>A	ENSP00000269209:p.Glu45*					GAREM_ENST00000269209.6_Nonsense_Mutation_p.E45*	p.E45*	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					2	188	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Nonsense_Mutation	SNP	ENST00000269209.6	37	c.133G>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	37	6.449564	0.97577	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.3825	20.3501	0.98811	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000269209:E45X	E	-	1	0	FAM59A	28226985	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.461000	0.80834	2.821000	0.97095	0.655000	0.94253	GAA		0.423	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		9	55	1	0	5.4927e-09	1	6.6252e-09	9	55				
LRRC41	10489	broad.mit.edu	37	1	46751289	46751289	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751289A>G	ENST00000343304.6	-	4	1525	c.1240T>C	c.(1240-1242)Tat>Cat	p.Y414H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	414					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACGAAGTCATACAGGTCTTCA	0.562																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1240-1242)Tat>Cat		leucine rich repeat containing 41							101.0	97.0	98.0					1																	46751289		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46751289A>G	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1240T>C	1.37:g.46751289A>G	ENSP00000343298:p.Tyr414His					LRRC41_ENST00000472710.1_5'UTR	p.Y414H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1525	-	Acute lymphoblastic leukemia(166;0.155)		414					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1240T>C	CCDS533.1	.	.	.	.	.	.	.	.	.	.	a	19.20	3.781014	0.70222	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.66280	-0.2	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000003	T	0.69415	0.3108	L	0.27053	0.805	0.39131	D	0.961854	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.996	T	0.75048	-0.3455	10	0.72032	D	0.01	12.1903	15.6781	0.77344	1.0:0.0:0.0:0.0	.	414;392;414	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	H	414;392	ENSP00000343298:Y414H	ENSP00000343298:Y414H	Y	-	1	0	LRRC41	46523876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.037000	0.70956	2.110000	0.64415	0.370000	0.22315	TAT		0.562	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		28	75	0	0	0	1	0	28	75				
ETAA1	54465	broad.mit.edu	37	2	67632257	67632257	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67632257A>G	ENST00000272342.5	+	5	2573	c.2443A>G	c.(2443-2445)Aca>Gca	p.T815A	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	815						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCTTAACACAACAGTTGGATT	0.313																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2443-2445)Aca>Gca		Ewing tumor-associated antigen 1							53.0	55.0	54.0					2																	67632257		2202	4298	6500	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67632257A>G	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2443A>G	2.37:g.67632257A>G	ENSP00000272342:p.Thr815Ala					ETAA1_ENST00000462772.1_3'UTR	p.T815A	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2573	+			815					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2443A>G	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	6.293	0.422243	0.11928	.	.	ENSG00000143971	ENST00000272342	T	0.17054	2.3	5.12	-2.6	0.06190	.	0.831781	0.10981	N	0.612642	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.36407	-0.9749	10	0.27785	T	0.31	-4.3588	0.5723	0.00698	0.2923:0.3127:0.1631:0.2319	.	815	Q9NY74	ETAA1_HUMAN	A	815	ENSP00000272342:T815A	ENSP00000272342:T815A	T	+	1	0	ETAA1	67485761	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.545000	0.23268	-0.226000	0.09899	0.533000	0.62120	ACA		0.313	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		28	22	0	0	0	1	0	28	22				
CHST13	166012	broad.mit.edu	37	3	126255145	126255145	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126255145G>T	ENST00000319340.2	+	2	179	c.129G>T	c.(127-129)tgG>tgT	p.W43C		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	43					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCTCCAGCTGGCTTGGTGGGG	0.597																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(127-129)tgG>tgT		carbohydrate (chondroitin 4) sulfotransferase 13							107.0	109.0	108.0					3																	126255145		2203	4300	6503	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126255145G>T	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.129G>T	3.37:g.126255145G>T	ENSP00000317404:p.Trp43Cys						p.W43C	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	2	179	+			43					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.129G>T	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	9.960	1.222469	0.22457	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.66995	-0.24	3.18	3.18	0.36537	.	4.819880	0.00714	U	0.000844	T	0.74520	0.3727	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.66901	-0.5806	10	0.35671	T	0.21	-39.9602	10.1162	0.42591	0.0:0.0:1.0:0.0	.	43	Q8NET6	CHSTD_HUMAN	C	43	ENSP00000317404:W43C	ENSP00000317404:W43C	W	+	3	0	CHST13	127737835	0.998000	0.40836	0.898000	0.35279	0.157000	0.22087	3.296000	0.51802	2.063000	0.61619	0.467000	0.42956	TGG		0.597	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		17	40	1	0	3.41278e-10	1	4.19267e-10	17	40				
F8	2157	broad.mit.edu	37	X	154159626	154159626	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154159626C>T	ENST00000360256.4	-	14	2639	c.2439G>A	c.(2437-2439)ttG>ttA	p.L813L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	813	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GACTCTGTCGCAAGAGCATCA	0.418																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(2437-2439)ttG>ttA		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						212.0	195.0	201.0					X																	154159626		2203	4299	6502	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159626C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2439G>A	X.37:g.154159626C>T							p.L813L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	2639	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		813			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.2439G>A	CCDS35457.1																																																																																				0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			52	95	0	0	0	1	0	52	95				
ARPP21	10777	broad.mit.edu	37	3	35770971	35770971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35770971C>T	ENST00000187397.4	+	15	1858	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	ARPP21_ENST00000444190.1_Missense_Mutation_p.P414S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P414S|ARPP21_ENST00000458225.1_Missense_Mutation_p.P434S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P434S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	468					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CATCCTCCTTCCACTTGAAGC	0.537																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1402-1404)Cca>Tca		cAMP-regulated phosphoprotein, 21kDa							69.0	65.0	67.0					3																	35770971		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35770971C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1402C>T	3.37:g.35770971C>T	ENSP00000187397:p.Pro468Ser					ARPP21_ENST00000458225.1_Missense_Mutation_p.P434S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P414S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P414S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P434S	p.P468S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			15	1858	+			468					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1402C>T	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.599097|4.599097	0.87055|0.87055	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75|.	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.195334|.	0.47455|.	N|.	0.000227|.	T|T	0.71273|0.71273	0.3320|0.3320	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D|.	0.89917|.	0.996;1.0;0.999|.	D;D;D|.	0.87578|.	0.959;0.998;0.959|.	T|T	0.70597|0.70597	-0.4828|-0.4828	10|5	0.46703|.	T|.	0.11|.	-7.2483|-7.2483	15.2522|15.2522	0.73556|0.73556	0.0:0.933:0.0:0.067|0.0:0.933:0.0:0.067	.|.	434;468;414|.	Q9UBL0-3;Q9UBL0;Q9UBL0-4|.	.;ARP21_HUMAN;.|.	S|F	434;414;414;468;434|240	ENSP00000414351:P434S;ENSP00000337792:P414S;ENSP00000405276:P414S;ENSP00000187397:P468S;ENSP00000412326:P434S|.	ENSP00000187397:P468S|.	P|S	+|+	1|2	0|0	ARPP21|ARPP21	35745975|35745975	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.874000|4.874000	0.63064|0.63064	1.564000|1.564000	0.49628|0.49628	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		6	43	0	0	0	1	0	6	43				
MYH3	4621	broad.mit.edu	37	17	10545980	10545980	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545980A>G	ENST00000583535.1	-	16	1729	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	MYH3_ENST00000226209.7_Missense_Mutation_p.S548P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	548	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTGAAGGAGGTGTCTGTT	0.507																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1642-1644)Tcc>Ccc		myosin, heavy chain 3, skeletal muscle, embryonic							176.0	170.0	172.0					17																	10545980		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545980A>G		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1642T>C	17.37:g.10545980A>G	ENSP00000464317:p.Ser548Pro					MYH3_ENST00000226209.7_Missense_Mutation_p.S548P	p.S548P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			16	1729	-			548			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1642T>C	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380521	0.61845	.	.	ENSG00000109063	ENST00000226209	D	0.88431	-2.38	4.74	4.74	0.60224	Myosin head, motor domain (2);	.	.	.	.	D	0.96399	0.8825	H	0.97611	4.04	0.38384	D	0.945206	D	0.69078	0.997	D	0.76071	0.987	D	0.99032	1.0821	9	0.87932	D	0	.	14.6914	0.69087	1.0:0.0:0.0:0.0	.	548	P11055	MYH3_HUMAN	P	548	ENSP00000226209:S548P	ENSP00000226209:S548P	S	-	1	0	MYH3	10486705	0.816000	0.29132	1.000000	0.80357	0.999000	0.98932	1.560000	0.36331	2.122000	0.65172	0.528000	0.53228	TCC		0.507	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		5	97	0	0	0	1	0	5	97				
SIGLEC8	27181	broad.mit.edu	37	19	51961369	51961369	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961369C>A	ENST00000321424.3	-	1	339	c.273G>T	c.(271-273)gaG>gaT	p.E91D	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E91D|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E91D|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	91	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCCCTGGGTCTCTGCCTGCA	0.552																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(271-273)gaG>gaT		sialic acid binding Ig-like lectin 8							192.0	168.0	176.0					19																	51961369		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961369C>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.273G>T	19.37:g.51961369C>A	ENSP00000321077:p.Glu91Asp					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E91D|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E91D	p.E91D	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	339	-		all_neural(266;0.0199)	91			Ig-like V-type.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.273G>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	10.27	1.304815	0.23736	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.20881	2.04;2.04;2.04	2.04	-4.07	0.03975	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.403835	0.17813	N	0.161160	T	0.13072	0.0317	L	0.56396	1.775	0.09310	N	1	B;P;B	0.42078	0.002;0.77;0.011	B;B;B	0.35114	0.003;0.196;0.037	T	0.07443	-1.0772	10	0.42905	T	0.14	.	3.7838	0.08692	0.0:0.3041:0.3998:0.2961	.	91;91;91	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	D	91	ENSP00000389142:E91D;ENSP00000321077:E91D;ENSP00000339448:E91D	ENSP00000321077:E91D	E	-	3	2	SIGLEC8	56653181	0.000000	0.05858	0.007000	0.13788	0.444000	0.32077	-0.412000	0.07132	-0.905000	0.03871	0.508000	0.49915	GAG		0.552	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		36	72	1	0	8.16277e-20	1	1.06952e-19	36	72				
COPA	1314	broad.mit.edu	37	1	160261620	160261620	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160261620G>A	ENST00000241704.7	-	30	3476	c.3247C>T	c.(3247-3249)Cgc>Tgc	p.R1083C	COPA_ENST00000368069.3_Missense_Mutation_p.R1092C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1083					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACAGATGCGCTTCTGCTGT	0.483											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3247-3249)Cgc>Tgc		coatomer protein complex, subunit alpha							238.0	240.0	239.0					1																	160261620		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261620G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3247C>T	1.37:g.160261620G>A	ENSP00000241704:p.Arg1083Cys		OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Missense_Mutation_p.R1092C	p.R1083C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3476	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1083					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.3247C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577113	0.86645	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.57907	0.37;0.37	6.17	6.17	0.99709	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.83684	0.0173	10	0.87932	D	0	-14.4773	19.4432	0.94831	0.0:0.0:1.0:0.0	.	1083;1092	P53621;P53621-2	COPA_HUMAN;.	C	1092;1083	ENSP00000357048:R1092C;ENSP00000241704:R1083C	ENSP00000241704:R1083C	R	-	1	0	COPA	158528244	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.582000	0.60957	2.941000	0.99782	0.655000	0.94253	CGC		0.483	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		97	216	0	0	0	1	0	97	216				
CELSR3	1951	broad.mit.edu	37	3	48694535	48694535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694535G>A	ENST00000164024.4	-	2	4275	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	CELSR3_ENST00000544264.1_Missense_Mutation_p.A1332V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1332					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAGCTAGCGCCGAGAAACT	0.672																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3994-3996)gCg>gTg		cadherin, EGF LAG seven-pass G-type receptor 3							72.0	72.0	72.0					3																	48694535		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694535G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3995C>T	3.37:g.48694535G>A	ENSP00000164024:p.Ala1332Val					CELSR3_ENST00000164024.4_Missense_Mutation_p.A1332V	p.A1332V			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4275	-			1332					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3995C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386055	0.82902	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.53	4.84	4.84	0.62591	.	.	.	.	.	T	0.79100	0.4389	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.78314	0.478;0.991	T	0.74334	-0.3699	9	0.21540	T	0.41	.	18.1195	0.89566	0.0:0.0:1.0:0.0	.	1332;1402	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	V	1332	ENSP00000164024:A1332V;ENSP00000445694:A1332V	ENSP00000164024:A1332V	A	-	2	0	CELSR3	48669539	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.775000	0.85489	2.524000	0.85096	0.549000	0.68633	GCG		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		17	23	0	0	0	1	0	17	23				
PPAP2A	8611	broad.mit.edu	37	5	54763910	54763910	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763910T>G	ENST00000307259.8	-	3	698	c.278A>C	c.(277-279)aAc>aCc	p.N93T	PPAP2A_ENST00000515132.1_5'UTR|PPAP2A_ENST00000264775.5_Missense_Mutation_p.N94T	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	93					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGCTATGTAGTTATTCCTGAT	0.368																																						ENST00000307259.8																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9						c.(277-279)aAc>aCc		phosphatidic acid phosphatase type 2A							100.0	104.0	102.0					5																	54763910		2203	4300	6503	SO:0001583	missense	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54763910T>G	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.278A>C	5.37:g.54763910T>G	ENSP00000302229:p.Asn93Thr					PPAP2A_ENST00000264775.5_Missense_Mutation_p.N94T|PPAP2A_ENST00000515132.1_5'UTR	p.N93T	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN			3	698	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	93					B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.278A>C	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189278	0.38707	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.29655	1.57;1.56	5.58	4.39	0.52855	.	0.438584	0.30285	N	0.009962	T	0.33702	0.0872	M	0.75447	2.3	0.35874	D	0.828443	B;B	0.31625	0.018;0.332	B;B	0.31869	0.019;0.137	T	0.36720	-0.9736	10	0.19147	T	0.46	-9.2518	13.2701	0.60155	0.0:0.0:0.132:0.868	.	93;94	O14494;G3XA95	LPP1_HUMAN;.	T	94;93	ENSP00000264775:N94T;ENSP00000302229:N93T	ENSP00000264775:N94T	N	-	2	0	PPAP2A	54799667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.918000	0.40006	1.025000	0.39708	0.467000	0.42956	AAC		0.368	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			8	76	0	0	0	1	0	8	76				
PASK	23178	broad.mit.edu	37	2	242065692	242065692	+	Missense_Mutation	SNP	G	G	A	rs373048417		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242065692G>A	ENST00000405260.1	-	10	3336	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C	PASK_ENST00000234040.4_Missense_Mutation_p.R880C|PASK_ENST00000358649.4_Missense_Mutation_p.R880C|PASK_ENST00000544142.1_Missense_Mutation_p.R694C|PASK_ENST00000539818.1_Missense_Mutation_p.R664C|PASK_ENST00000403638.3_Missense_Mutation_p.R880C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	880					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCAGCCCCGCGCATCACGATC	0.642																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2638-2640)Cgc>Tgc		PAS domain containing serine/threonine kinase		G	CYS/ARG	0,4406		0,0,2203	109.0	95.0	100.0		2638	2.0	0.0	2		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	PASK	NM_015148.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	880/1324	242065692	1,13005	2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065692G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2638C>T	2.37:g.242065692G>A	ENSP00000384016:p.Arg880Cys					PASK_ENST00000405260.1_Missense_Mutation_p.R880C|PASK_ENST00000539818.1_Missense_Mutation_p.R664C|PASK_ENST00000544142.1_Missense_Mutation_p.R694C|PASK_ENST00000358649.4_Missense_Mutation_p.R880C|PASK_ENST00000234040.4_Missense_Mutation_p.R880C	p.R880C	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2729	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	880					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2638C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748762	0.30955	0.0	1.16E-4	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.68181	-0.31;-0.3;-0.31;-0.26;-0.3;0.67	4.94	2.0	0.26442	.	0.838682	0.10350	N	0.685191	T	0.39172	0.1068	N	0.08118	0	0.09310	N	1	P;B;P;B;P	0.37864	0.476;0.0;0.61;0.001;0.476	B;B;B;B;B	0.33750	0.082;0.0;0.169;0.001;0.082	T	0.29243	-1.0018	10	0.54805	T	0.06	.	2.1374	0.03766	0.174:0.1551:0.5109:0.16	.	845;694;880;880;880	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	C	880;694;880;880;664;880	ENSP00000234040:R880C;ENSP00000441374:R694C;ENSP00000384016:R880C;ENSP00000351475:R880C;ENSP00000443083:R664C;ENSP00000384438:R880C	ENSP00000234040:R880C	R	-	1	0	PASK	241714365	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.083000	0.14871	0.493000	0.27837	-0.304000	0.09214	CGC		0.642	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		9	71	0	0	0	1	0	9	71				
PRR5L	79899	broad.mit.edu	37	11	36472881	36472881	+	Silent	SNP	G	G	A	rs374285817		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36472881G>A	ENST00000378867.3	+	9	1063	c.708G>A	c.(706-708)acG>acA	p.T236T	PRR5L_ENST00000530639.1_Silent_p.T236T|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.T163T	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	236					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACGTACACGCTGGGTAAGG	0.517																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(706-708)acG>acA		proline rich 5 like		G	,,,	1,4403	2.1+/-5.4	0,1,2201	98.0	78.0	85.0		708,324,,708	-8.1	0.0	11		85	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	PRR5L	NM_001160167.1,NM_001160168.1,NM_001160169.1,NM_024841.4	,,,	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,,,	236/369,108/241,,236/369	36472881	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	79899							g.chr11:36472881G>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.708G>A	11.37:g.36472881G>A						PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.T163T|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000530639.1_Silent_p.T236T	p.T236T	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	1063	+			236					A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	ENST00000378867.3	37	c.708G>A	CCDS31463.1																																																																																				0.517	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		21	47	0	0	0	1	0	21	47				
KIAA1211	57482	broad.mit.edu	37	4	57181518	57181518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181518C>T	ENST00000504228.1	+	6	1955	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A610V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A617V			Q6ZU35	K1211_HUMAN	KIAA1211	617										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGACACCGCGTGCAAGTCC	0.701																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1849-1851)gCg>gTg		KIAA1211							18.0	22.0	21.0					4																	57181518		2014	4167	6181	SO:0001583	missense	57482							g.chr4:57181518C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1850C>T	4.37:g.57181518C>T	ENSP00000423366:p.Ala617Val					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A617V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A610V	p.A617V			Q6ZU35	K1211_HUMAN			6	1955	+	Glioma(25;0.08)|all_neural(26;0.101)		617					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1850C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125114	0.94429	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02345	4.33;4.33;4.33	5.01	5.01	0.66863	.	.	.	.	.	T	0.15478	0.0373	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.00311	-1.1827	9	0.87932	D	0	-20.4114	18.314	0.90213	0.0:1.0:0.0:0.0	.	610;610;617	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	V	617;617;610;527	ENSP00000264229:A617V;ENSP00000423366:A617V;ENSP00000444006:A610V	ENSP00000264229:A617V	A	+	2	0	KIAA1211	56876275	1.000000	0.71417	0.178000	0.23040	0.944000	0.59088	7.337000	0.79256	2.311000	0.77944	0.561000	0.74099	GCG		0.701	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		10	13	0	0	0	1	0	10	13				
DDX60	55601	broad.mit.edu	37	4	169172246	169172246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169172246C>A	ENST00000393743.3	-	28	4008	c.3717G>T	c.(3715-3717)aaG>aaT	p.K1239N	DDX60_ENST00000505393.1_5'Flank	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1239	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GACCAAATACCTTCTGCAAAG	0.294																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(3715-3717)aaG>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							99.0	100.0	100.0					4																	169172246		2199	4300	6499	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169172246C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3717G>T	4.37:g.169172246C>A	ENSP00000377344:p.Lys1239Asn						p.K1239N	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	28	4008	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1239			Helicase C-terminal.		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3717G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.629	-0.076018	0.07184	.	.	ENSG00000137628	ENST00000393743	T	0.43294	0.95	5.12	0.306	0.15806	Helicase, C-terminal (1);	0.850249	0.10519	N	0.665183	T	0.19685	0.0473	N	0.16098	0.37	0.09310	N	1	P	0.36465	0.554	B	0.32583	0.148	T	0.16247	-1.0409	10	0.17832	T	0.49	.	5.6255	0.17480	0.124:0.5206:0.0:0.3554	.	1239	Q8IY21	DDX60_HUMAN	N	1239	ENSP00000377344:K1239N	ENSP00000377344:K1239N	K	-	3	2	DDX60	169408821	0.002000	0.14202	0.011000	0.14972	0.012000	0.07955	-0.167000	0.09940	-0.056000	0.13221	-0.373000	0.07131	AAG		0.294	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		22	30	1	0	2.70639e-06	1	3.11222e-06	22	30				
STEAP1B	256227	broad.mit.edu	37	7	22533445	22533445	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22533445G>A	ENST00000406890.2	-	3	179				STEAP1B_ENST00000404369.4_Missense_Mutation_p.T32M	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						GGTCTCTCCCGTGTCCTCATG	0.398																																						ENST00000404369.4																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(94-96)aCg>aTg		STEAP family member 1B							26.0	21.0	22.0					7																	22533445		692	1590	2282	SO:0001627	intron_variant	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22533445G>A		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.85-47C>T	7.37:g.22533445G>A						STEAP1B_ENST00000406890.2_Intron	p.T32M	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN			3	510	-			28					B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	c.95C>T	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	g	8.448	0.852385	0.17106	.	.	ENSG00000105889	ENST00000404369;ENST00000424363;ENST00000439708	T;T;T	0.11821	2.88;2.94;2.74	1.06	1.06	0.20224	.	.	.	.	.	T	0.08537	0.0212	L	0.34521	1.04	0.18873	N	0.999987	B	0.26602	0.154	B	0.11329	0.006	T	0.32719	-0.9896	8	.	.	.	-0.4039	5.6279	0.17492	0.0:0.0:1.0:0.0	.	32	B5MCI2	.	M	32	ENSP00000384370:T32M;ENSP00000416608:T32M;ENSP00000408954:T32M	.	T	-	2	0	STEAP1B	22499970	0.353000	0.24904	0.632000	0.29296	0.342000	0.28953	1.415000	0.34748	0.914000	0.36822	0.121000	0.15741	ACG		0.398	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			30	31	0	0	0	1	0	30	31				
MAN2B2	23324	broad.mit.edu	37	4	6610849	6610849	+	Silent	SNP	G	G	A	rs540141303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6610849G>A	ENST00000285599.3	+	12	1866	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	MAN2B2_ENST00000504248.1_Silent_p.T559T|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	610					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.T610T(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTAACCGAACGGTGCGCGTGA	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		21816	0.001		0.0	False		,,,				2504	0.0					ENST00000285599.3																			1	Substitution - coding silent(1)	p.T610T(1)	large_intestine(1)	breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1828-1830)acG>acA		mannosidase, alpha, class 2B, member 2							77.0	67.0	70.0					4																	6610849		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6610849G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1830G>A	4.37:g.6610849G>A						MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.T559T	p.T610T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			12	1866	+			610					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.1830G>A	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	G	3.456	-0.110909	0.06924	.	.	ENSG00000013288	ENST00000505907	.	.	.	4.26	-8.52	0.00920	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	T	0.46748	-0.9169	4	.	.	.	-12.0277	2.8578	0.05577	0.1738:0.311:0.3683:0.1469	.	.	.	.	Q	609	.	.	R	+	2	0	MAN2B2	6661750	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.857000	0.00728	-3.427000	0.00165	-1.797000	0.00622	CGG		0.567	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		3	17	0	0	0	1	0	3	17				
AMZ2	51321	broad.mit.edu	37	17	66247070	66247070	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66247070G>T	ENST00000359904.3	+	3	1551	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AMZ2_ENST00000580753.1_Missense_Mutation_p.R140I|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000392720.2_Missense_Mutation_p.R140I|AMZ2_ENST00000577985.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577866.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577273.1_Missense_Mutation_p.R140I|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000359783.4_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	140							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCCTTTAGAGTCAATGAG	0.353																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(418-420)aGa>aTa		archaelysin family metallopeptidase 2							56.0	56.0	56.0					17																	66247070		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66247070G>T	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.419G>T	17.37:g.66247070G>T	ENSP00000352976:p.Arg140Ile					AMZ2_ENST00000392720.2_Missense_Mutation_p.R140I|AMZ2_ENST00000580753.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577866.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577273.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577985.1_Missense_Mutation_p.R140I|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Intron	p.R140I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1551	+	all_cancers(12;1.12e-09)		140					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.419G>T	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	G	9.214	1.031562	0.19590	.	.	ENSG00000196704	ENST00000359904;ENST00000392720	T;T	0.69926	-0.44;-0.44	2.52	2.52	0.30459	.	0.123969	0.37530	N	0.002041	T	0.80428	0.4621	M	0.84082	2.675	0.48452	D	0.999651	D	0.89917	1.0	D	0.76071	0.987	T	0.83206	-0.0076	10	0.87932	D	0	-18.9885	11.2322	0.48918	0.0:0.0:1.0:0.0	.	140	Q86W34	AMZ2_HUMAN	I	140	ENSP00000352976:R140I;ENSP00000376481:R140I	ENSP00000352976:R140I	R	+	2	0	AMZ2	63758665	1.000000	0.71417	0.963000	0.40424	0.475000	0.33008	4.425000	0.59875	1.727000	0.51537	0.306000	0.20318	AGA		0.353	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		17	38	1	0	1.33834e-09	1	1.62941e-09	17	38				
TRAF6	7189	broad.mit.edu	37	11	36512081	36512081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36512081G>A	ENST00000526995.1	-	7	1122	c.876C>T	c.(874-876)gtC>gtT	p.V292V	TRAF6_ENST00000348124.5_Silent_p.V292V|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	292	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGAAATTCCGGACCTCTGAGA	0.478																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(874-876)gtC>gtT		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							116.0	112.0	113.0					11																	36512081		2202	4298	6500	SO:0001819	synonymous_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36512081G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.876C>T	11.37:g.36512081G>A						TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Silent_p.V292V	p.V292V	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1122	-	all_lung(20;0.211)	all_hematologic(20;0.107)	292			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	c.876C>T	CCDS7901.1																																																																																				0.478	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		46	91	0	0	0	1	0	46	91				
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	G	A	rs370731911		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000332298.5_Silent_p.S113S|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20241	0.001		0.0	False		,,,				2504	0.0					ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(337-339)agC>agT		regulator of G-protein signaling 19		G	,	0,4406		0,0,2203	85.0	69.0	74.0		339,339	1.6	1.0	20		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS19	NM_001039467.1,NM_005873.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/218,113/218	62705620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705620G>A	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.339C>T	20.37:g.62705620G>A						RGS19_ENST00000332298.5_Silent_p.S113S	p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			5	605	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		113			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	c.339C>T	CCDS13555.1																																																																																				0.612	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		8	23	0	0	0	1	0	8	23				
AC015849.16	0	broad.mit.edu	37	17	34235810	34235810	+	lincRNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34235810G>T	ENST00000587132.1	-	0	2217																											AGTCTCTATGGTGAGTTCTGG	0.458																																						ENST00000587132.1																			0																																																			0							g.chr17:34235810G>T																													17.37:g.34235810G>T														0	2217	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.458	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			3	28	1	0	0.115264	1	0.117355	3	28				
ZNF860	344787	broad.mit.edu	37	3	32032013	32032013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32032013C>A	ENST00000360311.4	+	2	1991	c.1442C>A	c.(1441-1443)cCt>cAt	p.P481H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						GGAGAGAAACCTTACAAGTGT	0.403																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1441-1443)cCt>cAt		zinc finger protein 860							37.0	34.0	34.0					3																	32032013		692	1590	2282	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032013C>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1442C>A	3.37:g.32032013C>A	ENSP00000373274:p.Pro481His						p.P481H	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1991	+			481					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1442C>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668362	0.47677	.	.	ENSG00000197385	ENST00000360311	T	0.79033	-1.23	0.3	0.3	0.15776	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86222	0.5881	M	0.85373	2.75	0.29102	N	0.881392	D	0.89917	1.0	D	0.91635	0.999	T	0.76591	-0.2903	8	.	.	.	.	6.4042	0.21656	0.0:0.9998:0.0:2.0E-4	.	481	A6NHJ4	ZN860_HUMAN	H	481	ENSP00000373274:P481H	.	P	+	2	0	ZNF860	32007017	0.986000	0.35501	0.208000	0.23602	0.194000	0.23727	3.685000	0.54678	0.378000	0.24764	0.379000	0.24179	CCT		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			27	38	1	0	9.39395e-14	1	1.19386e-13	27	38				
ERCC4	2072	broad.mit.edu	37	16	14029554	14029554	+	Missense_Mutation	SNP	C	C	T	rs147105770	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14029554C>T	ENST00000311895.7	+	8	1774	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	589			R -> W (in XPF/CS). {ECO:0000269|PubMed:23623389}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.R589W(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCTTTGTTCGGCAGCTTGA	0.478			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.R589W(1)	breast(1)	NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1765-1767)Cgg>Tgg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4		C	TRP/ARG	2,4392	4.2+/-10.8	0,2,2195	75.0	74.0	74.0		1765	5.3	0.4	16	dbSNP_134	74	0,8600		0,0,4300	yes	missense	ERCC4	NM_005236.2	101	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	589/917	14029554	2,12992	2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029554C>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1765C>T	16.37:g.14029554C>T	ENSP00000310520:p.Arg589Trp						p.R589W	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			8	1774	+			589					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1765C>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626844	0.87560	4.55E-4	0.0	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.68765	-0.35	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87108	0.2183	10	0.87932	D	0	-18.7443	18.3806	0.90449	0.0:1.0:0.0:0.0	.	589	Q92889	XPF_HUMAN	W	589;578	ENSP00000310520:R589W	ENSP00000310520:R589W	R	+	1	2	ERCC4	13937055	1.000000	0.71417	0.402000	0.26371	0.868000	0.49771	4.606000	0.61126	2.644000	0.89710	0.591000	0.81541	CGG		0.478	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		35	50	0	0	0	1	0	35	50				
CUX1	1523	broad.mit.edu	37	7	101838849	101838849	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101838849C>T	ENST00000292535.7	+	14	1226	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CUX1_ENST00000550008.2_Silent_p.N396N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.N361N|CUX1_ENST00000556210.1_Silent_p.N396N|CUX1_ENST00000546411.2_Silent_p.N396N|CUX1_ENST00000292538.4_Silent_p.N407N|CUX1_ENST00000393824.3_Silent_p.N368N|CUX1_ENST00000437600.4_Silent_p.N405N|CUX1_ENST00000360264.3_Silent_p.N407N|CUX1_ENST00000549414.2_Silent_p.N396N|CUX1_ENST00000547394.2_Silent_p.N391N|SNORA48_ENST00000517015.1_RNA	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	396					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGTCCGAGAACGCCGCGCTGC	0.682																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1219-1221)aaC>aaT		cut-like homeobox 1							36.0	34.0	34.0					7																	101838849		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101838849C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1188C>T	7.37:g.101838849C>T						CUX1_ENST00000547394.2_Silent_p.N391N|CUX1_ENST00000546411.2_Silent_p.N396N|CUX1_ENST00000292538.4_Silent_p.N407N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Silent_p.N405N|CUX1_ENST00000425244.2_Silent_p.N361N|CUX1_ENST00000556210.1_Silent_p.N396N|CUX1_ENST00000550008.2_Silent_p.N396N|CUX1_ENST00000549414.2_Silent_p.N396N|CUX1_ENST00000292535.7_Silent_p.N396N|CUX1_ENST00000393824.3_Silent_p.N368N	p.N407N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			14	1241	+			396					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.1221C>T	CCDS5721.1																																																																																				0.682	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		8	16	0	0	0	1	0	8	16				
TOX	9760	broad.mit.edu	37	8	59851961	59851961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59851961C>T	ENST00000361421.1	-	3	531	c.311G>A	c.(310-312)gGc>gAc	p.G104D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	104						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGTAGCAGGCCATTATGGTT	0.488																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(310-312)gGc>gAc		thymocyte selection-associated high mobility group box							145.0	129.0	134.0					8																	59851961		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59851961C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.311G>A	8.37:g.59851961C>T	ENSP00000354842:p.Gly104Asp						p.G104D	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			3	531	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	104					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.311G>A	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783415	0.70222	.	.	ENSG00000198846	ENST00000361421	T	0.32023	1.47	5.62	4.75	0.60458	.	0.129282	0.53938	D	0.000048	T	0.33118	0.0852	M	0.67397	2.05	0.58432	D	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.09292	-1.0681	9	.	.	.	.	14.7186	0.69289	0.0:0.9303:0.0:0.0697	.	104	O94900	TOX_HUMAN	D	104	ENSP00000354842:G104D	.	G	-	2	0	TOX	60014515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.475000	0.73582	1.388000	0.46506	0.591000	0.81541	GGC		0.488	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		15	40	0	0	0	1	0	15	40				
MC5R	4161	broad.mit.edu	37	18	13826657	13826657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13826657G>A	ENST00000324750.3	+	1	1115	c.893G>A	c.(892-894)cGc>cAc	p.R298H	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TATGCCTTCCGCAGCCAAGAG	0.478																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(892-894)cGc>cAc		melanocortin 5 receptor							119.0	118.0	119.0					18																	13826657		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826657G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.893G>A	18.37:g.13826657G>A	ENSP00000318077:p.Arg298His						p.R298H	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	1115	+			298					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.893G>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193304	0.58017	.	.	ENSG00000176136	ENST00000324750	T	0.41065	1.01	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	P	0.61592	0.891	T	0.70149	-0.4951	10	0.54805	T	0.06	.	17.7216	0.88353	0.0:0.0:1.0:0.0	.	298	P33032	MC5R_HUMAN	H	298	ENSP00000318077:R298H	ENSP00000318077:R298H	R	+	2	0	MC5R	13816657	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	9.338000	0.96553	2.246000	0.74042	0.305000	0.20034	CGC		0.478	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		50	75	0	0	0	1	0	50	75				
KLB	152831	broad.mit.edu	37	4	39409299	39409299	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39409299C>A	ENST00000257408.4	+	1	827	c.730C>A	c.(730-732)Cta>Ata	p.L244I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	244	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAACCCATATCTAGTGGCTTG	0.428																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(730-732)Cta>Ata		klotho beta							80.0	85.0	83.0					4																	39409299		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39409299C>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.730C>A	4.37:g.39409299C>A	ENSP00000257408:p.Leu244Ile						p.L244I	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			1	827	+			244			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.730C>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386135	0.61956	.	.	ENSG00000134962	ENST00000257408	T	0.32515	1.45	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	T	0.37320	0.0999	N	0.17379	0.485	0.36572	D	0.873071	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.38178	-0.9673	10	0.33141	T	0.24	-10.6868	12.8092	0.57629	0.0:0.9144:0.0:0.0856	.	244;244	B7ZL50;Q86Z14	.;KLOTB_HUMAN	I	244	ENSP00000257408:L244I	ENSP00000257408:L244I	L	+	1	2	KLB	39085694	1.000000	0.71417	0.920000	0.36463	0.987000	0.75469	2.504000	0.45416	2.483000	0.83821	0.467000	0.42956	CTA		0.428	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		36	44	1	0	2.32173e-10	1	2.85835e-10	36	44				
FZR1	51343	broad.mit.edu	37	19	3527008	3527008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3527008G>A	ENST00000395095.3	+	5	418	c.418G>A	c.(418-420)Gat>Aat	p.D140N	FZR1_ENST00000441788.2_Missense_Mutation_p.D140N|FZR1_ENST00000313639.8_Intron	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	140					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCCCCGATGACGGCAA	0.662																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(418-420)Gat>Aat		fizzy/cell division cycle 20 related 1 (Drosophila)							197.0	134.0	155.0					19																	3527008		2202	4298	6500	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527008G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.418G>A	19.37:g.3527008G>A	ENSP00000378529:p.Asp140Asn					FZR1_ENST00000395095.3_Missense_Mutation_p.D140N|FZR1_ENST00000313639.8_Intron	p.D140N	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	6	654	+			140					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.418G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	7.384	0.629461	0.14257	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.08282	3.11;3.11	3.72	3.72	0.42706	.	0.107352	0.64402	D	0.000007	T	0.04003	0.0112	N	0.11724	0.165	0.80722	D	1	B;P	0.40931	0.008;0.733	B;B	0.33521	0.011;0.165	T	0.48779	-0.9005	10	0.08179	T	0.78	-23.2137	14.6151	0.68541	0.0:0.0:1.0:0.0	.	140;140	Q9UM11;Q9UM11-2	FZR_HUMAN;.	N	140	ENSP00000410369:D140N;ENSP00000378529:D140N	ENSP00000378529:D140N	D	+	1	0	FZR1	3478008	1.000000	0.71417	0.064000	0.19789	0.067000	0.16453	7.217000	0.77982	2.094000	0.63399	0.555000	0.69702	GAT		0.662	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		27	21	0	0	0	1	0	27	21				
NF1	4763	broad.mit.edu	37	17	29508478	29508478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508478C>T	ENST00000358273.4	+	6	1008	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q209*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q209*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	209					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGGTTGCGCAGTTAGCAGT	0.299			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(625-627)Cag>Tag		neurofibromin 1							62.0	67.0	65.0					17																	29508478		2203	4295	6498	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508478C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.625C>T	17.37:g.29508478C>T	ENSP00000351015:p.Gln209*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Nonsense_Mutation_p.Q209*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q209*	p.Q209*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	6	1008	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	209					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.625C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	37	6.523154	0.97633	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.0439	0.64693	0.1509:0.8491:0.0:0.0	.	.	.	.	X	209	.	ENSP00000348498:Q209X	Q	+	1	0	NF1	26532604	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.863000	0.75489	2.516000	0.84829	0.591000	0.81541	CAG		0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	30	0	0	0	1	0	20	30				
TMEM133	83935	broad.mit.edu	37	11	100863304	100863304	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100863304T>C	ENST00000303130.2	+	1	494	c.265T>C	c.(265-267)Tca>Cca	p.S89P		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	89						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TATCGAGTATTCATCAACTGG	0.403																																						ENST00000303130.2																			0				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(265-267)Tca>Cca		transmembrane protein 133							185.0	174.0	178.0					11																	100863304		2203	4300	6503	SO:0001583	missense	83935					integral to membrane		g.chr11:100863304T>C	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.265T>C	11.37:g.100863304T>C	ENSP00000303999:p.Ser89Pro						p.S89P	NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	1	494	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	89						Missense_Mutation	SNP	ENST00000303130.2	37	c.265T>C	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368589	0.24771	.	.	ENSG00000170647	ENST00000303130	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.23249	0.0562	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	P	0.49085	0.6	T	0.07385	-1.0775	8	0.87932	D	0	.	10.574	0.45217	0.0:0.0:0.0:1.0	.	89	Q9H2Q1	TM133_HUMAN	P	89	.	ENSP00000303999:S89P	S	+	1	0	TMEM133	100368514	0.044000	0.20184	0.307000	0.25127	0.079000	0.17450	2.048000	0.41278	2.058000	0.61347	0.533000	0.62120	TCA		0.403	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		53	137	0	0	0	1	0	53	137				
CEP350	9857	broad.mit.edu	37	1	180064777	180064777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180064777C>T	ENST00000367607.3	+	35	9049	c.8631C>T	c.(8629-8631)gaC>gaT	p.D2877D	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2877					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGATGAAGACTTTGGTTTGA	0.448																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(8629-8631)gaC>gaT		centrosomal protein 350kDa							90.0	90.0	90.0					1																	180064777		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180064777C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8631C>T	1.37:g.180064777C>T						CEP350_ENST00000490141.1_3'UTR	p.D2877D	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			35	9049	+			2877					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.8631C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855748	0.17106	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.98	2.82	0.32997	.	.	.	.	.	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50533	-0.8817	4	.	.	.	.	8.8908	0.35432	0.0:0.6328:0.0:0.3672	.	.	.	.	F	1052	.	.	L	+	1	0	CEP350	178331400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.884000	0.39668	0.298000	0.22638	0.585000	0.79938	CTT		0.448	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	51	0	0	0	1	0	8	51				
CNIH3	149111	broad.mit.edu	37	1	224872497	224872497	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224872497G>A	ENST00000272133.3	+	3	1032		c.e3-1			NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3						intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCCTGATAGAGGGAACGGT	0.542																																						ENST00000272133.3																			0				large_intestine(5)|lung(4)	9						c.e3-1		cornichon family AMPA receptor auxiliary protein 3							173.0	145.0	154.0					1																	224872497		2203	4300	6503	SO:0001630	splice_region_variant	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224872497G>A	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.151-1G>A	1.37:g.224872497G>A								NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	3	1032	+	Breast(184;0.218)								Splice_Site	SNP	ENST00000272133.3	37		CCDS1544.1	.	.	.	.	.	.	.	.	.	.	.	17.03	3.284696	0.59867	.	.	ENSG00000143786	ENST00000272133	.	.	.	4.49	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5107	0.50492	0.0902:0.0:0.9098:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNIH3	222939120	1.000000	0.71417	0.980000	0.43619	0.880000	0.50808	4.940000	0.63533	0.892000	0.36259	0.551000	0.68910	.		0.542	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495	Intron	29	56	0	0	0	1	0	29	56				
GPR75	10936	broad.mit.edu	37	2	54081849	54081849	+	Silent	SNP	C	C	T	rs528110151		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54081849C>T	ENST00000394705.2	-	2	315	c.45G>A	c.(43-45)tcG>tcA	p.S15S	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	15					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACATGGAGCGAGGTGGCAT	0.522																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(43-45)tcG>tcA		G protein-coupled receptor 75							125.0	119.0	121.0					2																	54081849		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081849C>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.45G>A	2.37:g.54081849C>T						ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	p.S15S	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	315	-			15					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.45G>A	CCDS1849.1																																																																																				0.522	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			35	81	0	0	0	1	0	35	81				
CAMK1G	57172	broad.mit.edu	37	1	209781261	209781261	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209781261C>T	ENST00000009105.1	+	7	863	c.618C>T	c.(616-618)ggC>ggT	p.G206G	CAMK1G_ENST00000361322.2_Silent_p.G206G|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGTCCATCGGCGTCATCACCT	0.582																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(616-618)ggC>ggT		calcium/calmodulin-dependent protein kinase IG							124.0	113.0	117.0					1																	209781261		2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209781261C>T		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.618C>T	1.37:g.209781261C>T						CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.G206G	p.G206G			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	7	863	+			206			Protein kinase.		Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.618C>T	CCDS1486.1																																																																																				0.582	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		28	44	0	0	0	1	0	28	44				
SNTG2	54221	broad.mit.edu	37	2	1241667	1241667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1241667G>A	ENST00000308624.5	+	10	856	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	SNTG2_ENST00000407292.1_Missense_Mutation_p.A116T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	243					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTGGAATGCGTTCGAGGT	0.657																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(727-729)Gcg>Acg		syntrophin, gamma 2							32.0	37.0	35.0					2																	1241667		2198	4293	6491	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1241667G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.727G>A	2.37:g.1241667G>A	ENSP00000311837:p.Ala243Thr					SNTG2_ENST00000407292.1_Missense_Mutation_p.A116T	p.A243T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	10	856	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	243					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.727G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515712	0.27123	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.54866	0.55;0.55	4.68	4.68	0.58851	.	0.176912	0.50627	D	0.000110	T	0.52517	0.1739	M	0.66297	2.02	0.23589	N	0.99734	P;P	0.43938	0.822;0.483	B;B	0.43916	0.436;0.162	T	0.50825	-0.8782	10	0.33940	T	0.23	.	10.6892	0.45860	0.0:0.0:0.809:0.191	.	116;243	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	T	243;116	ENSP00000311837:A243T;ENSP00000385020:A116T	ENSP00000311837:A243T	A	+	1	0	SNTG2	1224218	0.695000	0.27747	0.050000	0.19076	0.002000	0.02628	2.227000	0.42972	2.298000	0.77334	0.655000	0.94253	GCG		0.657	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		3	3	0	0	0	1	0	3	3				
MAP1A	4130	broad.mit.edu	37	15	43819268	43819268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43819268C>A	ENST00000300231.5	+	4	6047	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H	MAP1A_ENST00000382031.1_Missense_Mutation_p.P2104H|MAP1A_ENST00000399453.1_Missense_Mutation_p.P1866H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1866					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCCCACACCTGCCCCGGAA	0.652																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6310-6312)cCt>cAt		microtubule-associated protein 1A	Estramustine(DB01196)						20.0	22.0	21.0					15																	43819268		1841	4082	5923	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819268C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5597C>A	15.37:g.43819268C>A	ENSP00000300231:p.Pro1866His					MAP1A_ENST00000399453.1_Missense_Mutation_p.P1866H|MAP1A_ENST00000300231.5_Missense_Mutation_p.P1866H	p.P2104H			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6342	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1866					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6311C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	6.357	0.433935	0.12045	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01821	4.62;4.62;4.63	4.87	3.92	0.45320	.	0.248903	0.21277	N	0.077220	T	0.01940	0.0061	L	0.34521	1.04	0.34993	D	0.755214	B	0.13594	0.008	B	0.16289	0.015	T	0.41324	-0.9515	10	0.44086	T	0.13	-2.637	9.9894	0.41860	0.3688:0.6311:0.0:0.0	.	1866	P78559	MAP1A_HUMAN	H	2104;1866;1866	ENSP00000371462:P2104H;ENSP00000382380:P1866H;ENSP00000300231:P1866H	ENSP00000300231:P1866H	P	+	2	0	MAP1A	41606560	0.987000	0.35691	0.882000	0.34594	0.091000	0.18340	2.318000	0.43779	1.223000	0.43536	0.557000	0.71058	CCT		0.652	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		8	12	1	0	0.27861	1	0.279982	8	12				
AMBRA1	55626	broad.mit.edu	37	11	46564140	46564140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46564140C>T	ENST00000458649.2	-	7	1845	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	AMBRA1_ENST00000533727.1_Missense_Mutation_p.G386E|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G476E|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G386E			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	476					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGTTGCCAACCCTGATGCCGG	0.547																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1426-1428)gGg>gAg		autophagy/beclin-1 regulator 1							106.0	99.0	101.0					11																	46564140		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564140C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1427G>A	11.37:g.46564140C>T	ENSP00000415327:p.Gly476Glu					AMBRA1_ENST00000534300.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G386E|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G476E|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G386E	p.G476E			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1845	-			476					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.1427G>A		.	.	.	.	.	.	.	.	.	.	C	13.69	2.313778	0.40996	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.79454	-0.88;-1.27;-0.7;-0.83;-0.7;-0.73;-0.83	6.02	5.09	0.68999	.	0.236106	0.43416	D	0.000579	T	0.77909	0.4201	N	0.24115	0.695	0.58432	D	0.999998	D;P;P;P;D;P	0.71674	0.998;0.846;0.846;0.846;0.973;0.527	P;B;B;B;P;B	0.57425	0.82;0.31;0.31;0.31;0.647;0.154	T	0.78635	-0.2127	10	0.39692	T	0.17	.	17.1266	0.86716	0.0:0.8735:0.1265:0.0	.	476;476;476;386;386;386	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	E	386;386;476;476;476;386;476;476	ENSP00000318313:G386E;ENSP00000433372:G386E;ENSP00000431926:G476E;ENSP00000410899:G476E;ENSP00000298834:G476E;ENSP00000415327:G476E;ENSP00000433945:G476E	ENSP00000298834:G476E	G	-	2	0	AMBRA1	46520716	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	5.213000	0.65230	1.519000	0.48950	0.655000	0.94253	GGG		0.547	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		40	70	0	0	0	1	0	40	70				
SVIL	6840	broad.mit.edu	37	10	29770598	29770598	+	Missense_Mutation	SNP	G	G	A	rs369100650		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29770598G>A	ENST00000355867.4	-	28	5767	c.5015C>T	c.(5014-5016)aCg>aTg	p.T1672M	SVIL_ENST00000375400.3_Missense_Mutation_p.T1246M|SVIL_ENST00000460007.1_5'Flank|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.T586M|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.T464M|SVIL_ENST00000375398.2_Missense_Mutation_p.T1672M|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1672	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAACAAAATCGTCTCATTGTG	0.522																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5014-5016)aCg>aTg		supervillin		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	190.0	215.0	207.0		3737,5015	4.3	1.0	10		207	0,8600		0,0,4300	no	missense,missense	SVIL	NM_003174.3,NM_021738.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1246/1789,1672/2215	29770598	1,13005	2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29770598G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5015C>T	10.37:g.29770598G>A	ENSP00000348128:p.Thr1672Met					PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.T1672M|SVIL_ENST00000535393.1_Missense_Mutation_p.T586M|SVIL_ENST00000538146.1_Missense_Mutation_p.T464M|SVIL_ENST00000375400.3_Missense_Mutation_p.T1246M|PTCHD3P1_ENST00000423223.1_RNA	p.T1672M			O95425	SVIL_HUMAN			30	5464	-		Breast(68;0.103)	1672			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5015C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835394	0.91117	2.27E-4	0.0	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.84326	2.69	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;0.98;0.944	D;P;P;P	0.70227	0.968;0.888;0.759;0.455	T	0.59888	-0.7369	10	0.87932	D	0	-18.4054	16.866	0.86029	0.0:0.0:1.0:0.0	.	586;464;1246;1672	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	M	1246;1672;1672;586;626;464	ENSP00000364549:T1246M;ENSP00000364547:T1672M;ENSP00000348128:T1672M;ENSP00000445472:T586M;ENSP00000440343:T464M	ENSP00000348128:T1672M	T	-	2	0	SVIL	29810604	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.535000	0.98064	2.206000	0.71126	0.561000	0.74099	ACG		0.522	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			92	245	0	0	0	1	0	92	245				
NAV3	89795	broad.mit.edu	37	12	78516178	78516178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78516178C>T	ENST00000397909.2	+	16	4381	c.4208C>T	c.(4207-4209)aCg>aTg	p.T1403M	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.T1403M|NAV3_ENST00000228327.6_Missense_Mutation_p.T1403M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1403M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCATGAGAACGGGTAGTGTG	0.552										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.T1403M(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4207-4209)aCg>aTg		neuron navigator 3							104.0	96.0	99.0					12																	78516178		2021	4186	6207	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78516178C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4208C>T	12.37:g.78516178C>T	ENSP00000381007:p.Thr1403Met	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.T1403M|NAV3_ENST00000228327.6_Missense_Mutation_p.T1403M|NAV3_ENST00000266692.7_Intron	p.T1403M			Q8IVL0	NAV3_HUMAN			16	4381	+			1403			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4208C>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.260794	0.80246	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000378640;ENST00000550788	T;T;T;T	0.30981	1.53;1.54;1.51;2.25	5.97	5.97	0.96955	.	0.000000	0.41294	U	0.000916	T	0.57961	0.2089	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.998;0.999	T	0.56860	-0.7909	10	0.87932	D	0	-13.975	20.4239	0.99064	0.0:1.0:0.0:0.0	.	1403;1403;1403	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	1403;1403;1403;38;46	ENSP00000446132:T1403M;ENSP00000381007:T1403M;ENSP00000228327:T1403M;ENSP00000448303:T46M	ENSP00000228327:T1403M	T	+	2	0	NAV3	77040309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.594000	0.82698	2.828000	0.97474	0.655000	0.94253	ACG		0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	76	0	0	0	1	0	14	76				
PLCG1	5335	broad.mit.edu	37	20	39794927	39794927	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39794927C>T	ENST00000373271.1	+	17	2298	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	PLCG1_ENST00000373272.2_Silent_p.S631S|PLCG1_ENST00000244007.3_Silent_p.S631S	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	631	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCTTTGACTCCCTCTATGACC	0.567																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(1891-1893)tcC>tcT		phospholipase C, gamma 1							104.0	95.0	98.0					20																	39794927		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39794927C>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1893C>T	20.37:g.39794927C>T						PLCG1_ENST00000373271.1_Silent_p.S631S|PLCG1_ENST00000244007.3_Silent_p.S631S	p.S631S	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			17	2298	+		Myeloproliferative disorder(115;0.00878)	631			SH2 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.1893C>T	CCDS13314.1																																																																																				0.567	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		4	76	0	0	0	1	0	4	76				
SALL2	6297	broad.mit.edu	37	14	21993529	21993529	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21993529G>T	ENST00000327430.3	-	2	627	c.333C>A	c.(331-333)acC>acA	p.T111T	SALL2_ENST00000450879.2_Silent_p.T109T|SALL2_ENST00000317492.5_Silent_p.T111T|SALL2_ENST00000538754.1_Silent_p.T109T|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGCCCCAGGTGGGATCCG	0.637																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(331-333)acC>acA		spalt-like transcription factor 2							46.0	52.0	50.0					14																	21993529		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993529G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.333C>A	14.37:g.21993529G>T						SALL2_ENST00000450879.2_Silent_p.T109T|SALL2_ENST00000317492.5_Silent_p.T111T|SALL2_ENST00000538754.1_Silent_p.T109T	p.T111T	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	627	-	all_cancers(95;0.000662)		111					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.333C>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.163070	0.09287	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.52	3.6	0.41247	.	.	.	.	.	T	0.61565	0.2357	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58853	-0.7563	4	.	.	.	-8.4974	10.7976	0.46470	0.0951:0.0:0.9049:0.0	.	.	.	.	H	105	.	.	P	-	2	0	SALL2	21063369	0.943000	0.32029	0.999000	0.59377	0.978000	0.69477	1.279000	0.33191	1.111000	0.41721	0.558000	0.71614	CCT		0.637	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		5	70	1	0	5.9392e-07	1	6.91975e-07	5	70				
GALNT5	11227	broad.mit.edu	37	2	158114767	158114767	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158114767G>T	ENST00000259056.4	+	1	658	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	58					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATAGGATTCAGAGTTCAGCCA	0.488																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(172-174)aGa>aTa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							121.0	132.0	128.0					2																	158114767		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158114767G>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.173G>T	2.37:g.158114767G>T	ENSP00000259056:p.Arg58Ile						p.R58I	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			1	658	+			58					A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.173G>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304753	0.60305	.	.	ENSG00000136542	ENST00000259056	T	0.59224	0.28	5.51	2.24	0.28232	.	1.403430	0.04693	N	0.414540	T	0.54775	0.1879	L	0.32530	0.975	0.37237	D	0.905921	P	0.49961	0.93	P	0.48030	0.564	T	0.52403	-0.8580	10	0.87932	D	0	.	7.6889	0.28557	0.3835:0.0:0.6165:0.0	.	58	Q7Z7M9	GALT5_HUMAN	I	58	ENSP00000259056:R58I	ENSP00000259056:R58I	R	+	2	0	GALNT5	157823013	0.970000	0.33590	0.929000	0.37066	0.671000	0.39405	0.677000	0.25262	0.801000	0.34066	0.655000	0.94253	AGA		0.488	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		58	92	1	0	8.77104e-35	1	1.17968e-34	58	92				
AHRR	57491	broad.mit.edu	37	5	434145	434145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:434145C>T	ENST00000505113.1	+	11	1346	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	AHRR_ENST00000512529.1_Silent_p.P280P|AHRR_ENST00000506456.1_Silent_p.P290P|AHRR_ENST00000316418.5_Silent_p.P452P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	434					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCCCATGCCCCGCGGCTCCT	0.692																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1354-1356)ccC>ccT		aryl-hydrocarbon receptor repressor							21.0	29.0	26.0					5																	434145		2099	4210	6309	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434145C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1302C>T	5.37:g.434145C>T						AHRR_ENST00000505113.1_Silent_p.P434P|AHRR_ENST00000512529.1_Silent_p.P280P|AHRR_ENST00000506456.1_Silent_p.P290P	p.P452P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1400	+			434					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.1356C>T	CCDS56355.1																																																																																				0.692	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		8	12	0	0	0	1	0	8	12				
PWWP2A	114825	broad.mit.edu	37	5	159545952	159545952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159545952G>A	ENST00000307063.7	-	1	478	c.444C>T	c.(442-444)ggC>ggT	p.G148G	PWWP2A_ENST00000523662.1_Silent_p.G148G|PWWP2A_ENST00000456329.3_Silent_p.G148G	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	148										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGTCCCCGCCCGCCGGCG	0.731																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(442-444)ggC>ggT		PWWP domain containing 2A							10.0	14.0	13.0					5																	159545952		1861	4041	5902	SO:0001819	synonymous_variant	114825							g.chr5:159545952G>A		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.444C>T	5.37:g.159545952G>A						PWWP2A_ENST00000523662.1_Silent_p.G148G|PWWP2A_ENST00000307063.7_Silent_p.G148G	p.G148G	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	478	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	148					G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	ENST00000307063.7	37	c.444C>T	CCDS47332.1																																																																																				0.731	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			7	5	0	0	0	1	0	7	5				
MPO	4353	broad.mit.edu	37	17	56350917	56350917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56350917G>A	ENST00000225275.3	-	9	1655	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Silent_p.V525V	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	493					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CATTGGTGAAGACGTTGGCGA	0.617																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1573-1575)gtC>gtT		myeloperoxidase	Cefdinir(DB00535)						290.0	227.0	248.0					17																	56350917		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350917G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1479C>T	17.37:g.56350917G>A						MPO_ENST00000225275.3_Silent_p.V493V	p.V525V			P05164	PERM_HUMAN			8	1751	-			493					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1575C>T	CCDS11604.1																																																																																				0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			42	90	0	0	0	1	0	42	90				
MUC6	4588	broad.mit.edu	37	11	1018737	1018737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1018737G>A	ENST00000421673.2	-	31	4114	c.4064C>T	c.(4063-4065)aCg>aTg	p.T1355M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1355	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGTGGCCGTTGTTCCTGG	0.582																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4063-4065)aCg>aTg		mucin 6, oligomeric mucus/gel-forming							185.0	195.0	192.0					11																	1018737		2185	4282	6467	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018737G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4064C>T	11.37:g.1018737G>A	ENSP00000406861:p.Thr1355Met						p.T1355M	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4114	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1355			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.4064C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.863	0.726492	0.15439	.	.	ENSG00000184956	ENST00000421673	T	0.21191	2.02	0.67	0.67	0.17923	.	.	.	.	.	T	0.13030	0.0316	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	B	0.44085	0.44	T	0.15694	-1.0428	9	0.45353	T	0.12	.	2.9598	0.05889	0.3403:0.0:0.6597:0.0	.	1355	Q6W4X9	MUC6_HUMAN	M	1355	ENSP00000406861:T1355M	ENSP00000406861:T1355M	T	-	2	0	MUC6	1008737	0.000000	0.05858	0.001000	0.08648	0.288000	0.27193	-0.077000	0.11394	0.657000	0.30906	0.305000	0.20034	ACG		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		49	66	0	0	0	1	0	49	66				
IRGQ	126298	broad.mit.edu	37	19	44096855	44096855	+	Missense_Mutation	SNP	C	C	T	rs111946192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44096855C>T	ENST00000602269.1	-	2	1380	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	IRGQ_ENST00000422989.1_Missense_Mutation_p.G399S|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	399	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTCTTCATGCCGACAACCTGC	0.622																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1195-1197)Ggc>Agc		immunity-related GTPase family, Q							143.0	143.0	143.0					19																	44096855		2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44096855C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1195G>A	19.37:g.44096855C>T	ENSP00000472250:p.Gly399Ser					L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.G399S	p.G399S	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1350	-		Prostate(69;0.0199)	399					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1195G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	5.238	0.229405	0.09916	.	.	ENSG00000167378	ENST00000422989	T	0.59502	0.26	3.24	1.09	0.20402	.	0.444437	0.16768	N	0.200317	T	0.28300	0.0699	N	0.12182	0.205	0.09310	N	1	B	0.24132	0.098	B	0.16289	0.015	T	0.18871	-1.0323	10	0.07325	T	0.83	-13.4209	5.4423	0.16515	0.0:0.7353:0.0:0.2647	.	399	Q8WZA9	IRGQ_HUMAN	S	399	ENSP00000387535:G399S	ENSP00000387535:G399S	G	-	1	0	IRGQ	48788695	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.735000	0.04888	0.382000	0.24878	0.655000	0.94253	GGC		0.622	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		43	51	0	0	0	1	0	43	51				
GABRB2	2561	broad.mit.edu	37	5	160721284	160721284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160721284C>A	ENST00000393959.1	-	10	1342	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	GABRB2_ENST00000274547.2_Missense_Mutation_p.R448M|GABRB2_ENST00000353437.6_Missense_Mutation_p.R410M|GABRB2_ENST00000517547.1_Missense_Mutation_p.R250M|GABRB2_ENST00000517901.1_Missense_Mutation_p.R347M|GABRB2_ENST00000520240.1_Missense_Mutation_p.R410M			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	448					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAACTATGCCTGGGCAACCC	0.537																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1342-1344)aGg>aTg		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						107.0	95.0	99.0					5																	160721284		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721284C>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1343G>T	5.37:g.160721284C>A	ENSP00000377531:p.Arg448Met					GABRB2_ENST00000353437.6_Missense_Mutation_p.R410M|GABRB2_ENST00000520240.1_Missense_Mutation_p.R410M|GABRB2_ENST00000517901.1_Missense_Mutation_p.R347M|GABRB2_ENST00000517547.1_Missense_Mutation_p.R250M|GABRB2_ENST00000393959.1_Missense_Mutation_p.R448M	p.R448M	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1560	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	448					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1343G>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301275	0.81136	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85773	-1.92;-1.92;-2.03;-2.03;-2.03;-2.03	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.279058	0.39020	N	0.001482	D	0.90099	0.6907	M	0.69358	2.11	0.58432	D	0.999999	P;P;P;P	0.50710	0.938;0.454;0.571;0.725	P;B;B;B	0.55161	0.77;0.291;0.285;0.335	D	0.90530	0.4495	10	0.62326	D	0.03	.	19.3664	0.94464	0.0:1.0:0.0:0.0	.	250;347;448;410	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	M	448;448;410;410;347;250	ENSP00000377531:R448M;ENSP00000274547:R448M;ENSP00000274546:R410M;ENSP00000429320:R410M;ENSP00000430532:R347M;ENSP00000429750:R250M	ENSP00000274547:R448M	R	-	2	0	GABRB2	160653862	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.831000	0.62752	2.582000	0.87167	0.650000	0.86243	AGG		0.537	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			32	30	1	0	2.09667e-21	1	2.75882e-21	32	30				
PHKA1	5255	broad.mit.edu	37	X	71886144	71886144	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71886144T>C	ENST00000373542.4	-	8	880	c.721A>G	c.(721-723)Atc>Gtc	p.I241V	PHKA1_ENST00000373545.3_Missense_Mutation_p.I241V|PHKA1_ENST00000541944.1_Missense_Mutation_p.I241V|PHKA1_ENST00000373539.3_Missense_Mutation_p.I241V|PHKA1_ENST00000339490.3_Missense_Mutation_p.I241V	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	241					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAATTTAGGATAGACTAAGAG	0.378																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(721-723)Atc>Gtc		phosphorylase kinase, alpha 1 (muscle)							84.0	79.0	81.0					X																	71886144		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71886144T>C		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.721A>G	X.37:g.71886144T>C	ENSP00000362643:p.Ile241Val					PHKA1_ENST00000373542.4_Missense_Mutation_p.I241V|PHKA1_ENST00000373539.3_Missense_Mutation_p.I241V|PHKA1_ENST00000339490.3_Missense_Mutation_p.I241V|PHKA1_ENST00000541944.1_Missense_Mutation_p.I241V	p.I241V			P46020	KPB1_HUMAN			8	1159	-	Renal(35;0.156)		241					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.721A>G	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261657	0.39995	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.78	5.78	0.91487	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.048208	0.85682	D	0.000000	D	0.93058	0.7790	L	0.48260	1.515	0.80722	D	1	D;B;P	0.65815	0.995;0.034;0.756	D;B;P	0.78314	0.991;0.155;0.627	D	0.90165	0.4231	10	0.08179	T	0.78	-9.2605	12.8049	0.57607	0.0:0.0:0.0:1.0	.	241;241;241	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	V	241	ENSP00000362646:I241V;ENSP00000362643:I241V;ENSP00000441251:I241V;ENSP00000342469:I241V;ENSP00000362640:I241V	ENSP00000342469:I241V	I	-	1	0	PHKA1	71802869	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.594000	0.82698	1.931000	0.55961	0.486000	0.48141	ATC		0.378	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			3	44	0	0	0	1	0	3	44				
BTBD10	84280	broad.mit.edu	37	11	13424821	13424821	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13424821A>C	ENST00000278174.5	-	8	1256	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	BTBD10_ENST00000530907.1_Missense_Mutation_p.I345M|BTBD10_ENST00000528120.1_Missense_Mutation_p.I289M	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	337	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TTGTGCTATAAATAACTAGAA	0.294																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(1009-1011)atT>atG		BTB (POZ) domain containing 10							40.0	44.0	42.0					11																	13424821		2143	4243	6386	SO:0001583	missense	84280					nucleus		g.chr11:13424821A>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1011T>G	11.37:g.13424821A>C	ENSP00000278174:p.Ile337Met					BTBD10_ENST00000530907.1_Missense_Mutation_p.I345M|BTBD10_ENST00000528120.1_Missense_Mutation_p.I289M	p.I337M	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	8	1256	-			337					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.1011T>G	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864248	0.32977	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.85861	-2.04;-2.04;-2.04	5.6	3.27	0.37495	.	0.046534	0.85682	D	0.000000	T	0.78136	0.4236	L	0.38838	1.175	0.50813	D	0.999891	P;P;P	0.40619	0.724;0.724;0.724	B;B;B	0.41988	0.372;0.372;0.372	T	0.76293	-0.3012	10	0.66056	D	0.02	-60.8234	6.9159	0.24359	0.7922:0.0:0.073:0.1347	.	345;337;337	B7Z228;D3DQW7;Q9BSF8	.;.;BTBDA_HUMAN	M	337;345;289	ENSP00000278174:I337M;ENSP00000431186:I345M;ENSP00000435257:I289M	ENSP00000278174:I337M	I	-	3	3	BTBD10	13381397	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.959000	0.49153	0.915000	0.36847	0.528000	0.53228	ATT		0.294	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		8	82	0	0	0	1	0	8	82				
GOLGA3	2802	broad.mit.edu	37	12	133385045	133385045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133385045G>T	ENST00000450791.2	-	4	793	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	GOLGA3_ENST00000456883.2_Missense_Mutation_p.L204M|GOLGA3_ENST00000204726.3_Missense_Mutation_p.L204M|GOLGA3_ENST00000545875.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L204M			Q08378	GOGA3_HUMAN	golgin A3	204	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCATAGCCAGGGTACTGGCC	0.512																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(610-612)Ctg>Atg		golgin A3							198.0	220.0	213.0					12																	133385045		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133385045G>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.610C>A	12.37:g.133385045G>T	ENSP00000410378:p.Leu204Met					GOLGA3_ENST00000545875.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L204M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L204M	p.L204M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1168	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	204			Golgi-targeting domain.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.610C>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330120	0.41297	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.34	3.46	0.39613	.	0.458529	0.23567	N	0.046799	T	0.18467	0.0443	N	0.08118	0	0.80722	D	1	P;B;B	0.37636	0.603;0.374;0.432	B;B;B	0.38616	0.277;0.277;0.174	T	0.09314	-1.0680	10	0.72032	D	0.01	.	12.3258	0.55009	0.1339:0.7357:0.1304:0.0	.	204;204;204	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	M	204	ENSP00000204726:L204M;ENSP00000410378:L204M;ENSP00000409303:L204M;ENSP00000442143:L204M;ENSP00000442603:L204M	ENSP00000204726:L204M	L	-	1	2	GOLGA3	131895118	0.994000	0.37717	0.620000	0.29132	0.653000	0.38743	3.169000	0.50809	0.705000	0.31890	-0.211000	0.12701	CTG		0.512	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		36	350	1	0	8.73648e-17	1	1.12908e-16	36	350				
ETNK2	55224	broad.mit.edu	37	1	204109171	204109171	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204109171T>C	ENST00000367202.4	-	5	1010	c.860A>G	c.(859-861)gAg>gGg	p.E287G	ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367198.2_Missense_Mutation_p.E109G|ETNK2_ENST00000367201.3_Missense_Mutation_p.E287G|ETNK2_ENST00000367199.2_Missense_Mutation_p.E218G|ETNK2_ENST00000477125.1_5'UTR|RP11-74C13.3_ENST00000433869.1_RNA	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	287					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGCAAACTCATTGAAATG	0.443																																						ENST00000367199.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(652-654)gAg>gGg		ethanolamine kinase 2							170.0	143.0	152.0					1																	204109171		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204109171T>C	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.860A>G	1.37:g.204109171T>C	ENSP00000356170:p.Glu287Gly					ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367202.4_Missense_Mutation_p.E287G|ETNK2_ENST00000367198.2_Missense_Mutation_p.E109G|ETNK2_ENST00000367201.3_Missense_Mutation_p.E287G|ETNK2_ENST00000477125.1_5'UTR	p.E218G			Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1063	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		287					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.653A>G	CCDS1442.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.855011|4.855011	0.91355|0.91355	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817|ENST00000422072	T;T;T;T;T;T;T|.	0.72725|.	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.102711|.	0.64402|.	D|.	0.000003|.	D|D	0.87418|0.87418	0.6172|0.6172	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.993;0.998;0.997|.	D|D	0.91303|0.91303	0.5068|0.5068	10|5	0.87932|.	D|.	0|.	-11.0304|-11.0304	13.6659|13.6659	0.62396|0.62396	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	246;287;287|.	Q9NVF9-3;Q9NVF9;Q9NVF9-2|.	.;EKI2_HUMAN;.|.	G|G	287;287;218;153;109;153;144;133|50	ENSP00000356169:E287G;ENSP00000356170:E287G;ENSP00000356167:E218G;ENSP00000356166:E109G;ENSP00000405497:E153G;ENSP00000398091:E144G;ENSP00000406241:E133G|.	ENSP00000356166:E109G|.	E|S	-|-	2|1	0|0	ETNK2|ETNK2	202375794|202375794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.238000|7.238000	0.78173|0.78173	2.043000|2.043000	0.60533|0.60533	0.528000|0.528000	0.53228|0.53228	GAG|AGT		0.443	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		9	69	0	0	0	1	0	9	69				
ZNF300	91975	broad.mit.edu	37	5	150276166	150276166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276166G>T	ENST00000274599.5	-	6	1055	c.635C>A	c.(634-636)cCt>cAt	p.P212H	ZNF300_ENST00000394226.2_Missense_Mutation_p.P212H|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.P228H|ZNF300_ENST00000418587.2_Missense_Mutation_p.P176H	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCTGATCAGGTTTTTTTCT	0.328																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(682-684)cCt>cAt		zinc finger protein 300							72.0	76.0	75.0					5																	150276166		2203	4298	6501	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276166G>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.635C>A	5.37:g.150276166G>T	ENSP00000274599:p.Pro212His					ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.P212H|ZNF300_ENST00000418587.2_Missense_Mutation_p.P176H|ZNF300_ENST00000394226.2_Missense_Mutation_p.P212H	p.P228H	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1110	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	212					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.683C>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	0	-2.636946	0.00114	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08008	3.2;3.21;3.14;3.21	3.04	-6.07	0.02158	.	.	.	.	.	T	0.06188	0.0160	L	0.45352	1.415	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31724	-0.9933	9	0.38643	T	0.18	.	5.5836	0.17262	0.3076:0.0:0.4664:0.226	.	212	Q96RE9	ZN300_HUMAN	H	228;212;176;212	ENSP00000397178:P228H;ENSP00000274599:P212H;ENSP00000392593:P176H;ENSP00000377773:P212H	ENSP00000274599:P212H	P	-	2	0	ZNF300	150256359	0.060000	0.20803	0.000000	0.03702	0.001000	0.01503	-0.624000	0.05540	-2.122000	0.00824	-2.729000	0.00130	CCT		0.328	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		20	101	1	0	2.37509e-13	1	3.01126e-13	20	101				
ERGIC3	51614	broad.mit.edu	37	20	34144848	34144848	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34144848G>A	ENST00000348547.2	+	11	1061	c.984G>A	c.(982-984)tcG>tcA	p.S328S	ERGIC3_ENST00000447986.1_Silent_p.S343S|ERGIC3_ENST00000357394.4_Silent_p.S333S|ERGIC3_ENST00000279052.6_Silent_p.S333S	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	328					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ATGAGCTCTCGCCCATGATGG	0.602																																						ENST00000348547.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16						c.(982-984)tcG>tcA		ERGIC and golgi 3							68.0	63.0	65.0					20																	34144848		2203	4300	6503	SO:0001819	synonymous_variant	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34144848G>A	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.984G>A	20.37:g.34144848G>A						ERGIC3_ENST00000357394.4_Silent_p.S333S|ERGIC3_ENST00000279052.6_Silent_p.S333S|ERGIC3_ENST00000447986.1_Silent_p.S343S	p.S328S	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		11	1061	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		328					Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Silent	SNP	ENST00000348547.2	37	c.984G>A	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.395|9.395	1.076420|1.076420	0.20227|0.20227	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000451605|ENST00000416206;ENST00000442139	.|.	.|.	.|.	5.22|5.22	-3.16|-3.16	0.05217|0.05217	.|.	.|.	.|.	.|.	.|.	T|T	0.51635|0.51635	0.1686|0.1686	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49153|0.49153	-0.8969|-0.8969	4|4	.|.	.|.	.|.	-6.7078|-6.7078	8.1716|8.1716	0.31258|0.31258	0.638:0.0:0.2499:0.1122|0.638:0.0:0.2499:0.1122	.|.	.|.	.|.	.|.	T|H	75|342;118	.|.	.|.	A|R	+|+	1|2	0|0	ERGIC3|ERGIC3	33608262|33608262	0.000000|0.000000	0.05858|0.05858	0.988000|0.988000	0.46212|0.46212	0.929000|0.929000	0.56500|0.56500	-2.282000|-2.282000	0.01156|0.01156	-0.415000|-0.415000	0.07484|0.07484	-0.837000|-0.837000	0.03062|0.03062	GCC|CGC		0.602	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		19	20	0	0	0	1	0	19	20				
NECAP2	55707	broad.mit.edu	37	1	16770223	16770223	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16770223G>A	ENST00000337132.5	+	2	279	c.189G>A	c.(187-189)acG>acA	p.T63T	NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000406746.1_Silent_p.T63T|NECAP2_ENST00000443980.2_Silent_p.T63T|NECAP2_ENST00000457722.2_Silent_p.T37T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	63					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACAGGACGTCAGGTAACC	0.617																																						ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(187-189)acG>acA		NECAP endocytosis associated 2							58.0	56.0	57.0					1																	16770223		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16770223G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.189G>A	1.37:g.16770223G>A						NECAP2_ENST00000457722.2_Silent_p.T37T|NECAP2_ENST00000443980.2_Silent_p.T63T|NECAP2_ENST00000406746.1_Silent_p.T63T|NECAP2_ENST00000504551.2_Intron	p.T63T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	2	279	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	63					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.189G>A	CCDS173.1																																																																																				0.617	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		5	15	0	0	0	1	0	5	15				
NMRK2	27231	broad.mit.edu	37	19	3942216	3942216	+	Missense_Mutation	SNP	G	G	A	rs148078582	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3942216G>A	ENST00000168977.2	+	8	928	c.638G>A	c.(637-639)cGc>cAc	p.R213H	NMRK2_ENST00000593949.1_Missense_Mutation_p.R218H|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	213					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GGACCCGGACGCGGATGCGGC	0.647																																						ENST00000168977.2																			0											c.(637-639)cGc>cAc		nicotinamide riboside kinase 2							22.0	22.0	22.0					19																	3942216		2200	4294	6494	SO:0001583	missense	27231							g.chr19:3942216G>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.638G>A	19.37:g.3942216G>A	ENSP00000168977:p.Arg213His					NMRK2_ENST00000593949.1_Missense_Mutation_p.R218H|NMRK2_ENST00000599576.1_3'UTR	p.R213H	NM_170678.2	NP_733778.1					8	928	+								B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.638G>A	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	3.474	-0.107411	0.06924	.	.	ENSG00000077009	ENST00000168977;ENST00000395034	T	0.46451	0.87	1.64	-3.28	0.05033	.	.	.	.	.	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14364	-1.0475	9	0.36615	T	0.2	.	2.9304	0.05797	0.4578:0.2417:0.3005:0.0	.	218;213	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	H	213;169	ENSP00000168977:R213H	ENSP00000168977:R213H	R	+	2	0	ITGB1BP3	3893216	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.886000	0.04157	-0.609000	0.05724	-0.440000	0.05779	CGC		0.647	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		9	13	0	0	0	1	0	9	13				
CNNM4	26504	broad.mit.edu	37	2	97474383	97474383	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97474383C>A	ENST00000377075.2	+	6	2132	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	CNNM4_ENST00000540067.1_Silent_p.T165T|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	678					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGCAGCAACCTTGGCAGGCA	0.607																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(2032-2034)acC>acA		cyclin M4							164.0	124.0	138.0					2																	97474383		2203	4300	6503	SO:0001819	synonymous_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97474383C>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2034C>A	2.37:g.97474383C>A						CNNM4_ENST00000540067.1_Silent_p.T165T|CNNM4_ENST00000496186.1_3'UTR	p.T678T	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			6	2132	+			678					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	37	c.2034C>A	CCDS2024.2																																																																																				0.607	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		9	31	1	0	2.17888e-05	1	2.45068e-05	9	31				
URB2	9816	broad.mit.edu	37	1	229794981	229794981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794981C>T	ENST00000258243.2	+	10	4648	c.4512C>T	c.(4510-4512)ctC>ctT	p.L1504L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1504						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTAAGGAGCTCTATAATGACT	0.522																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4510-4512)ctC>ctT		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							132.0	140.0	137.0					1																	229794981		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229794981C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4512C>T	1.37:g.229794981C>T							p.L1504L	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			10	4648	+			1504					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.4512C>T	CCDS31052.1																																																																																				0.522	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		94	122	0	0	0	1	0	94	122				
ATP10B	23120	broad.mit.edu	37	5	160047762	160047762	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160047762T>C	ENST00000327245.5	-	15	2854	c.2008A>G	c.(2008-2010)Agt>Ggt	p.S670G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	670					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCTCCACTGCACACAGAT	0.582																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2008-2010)Agt>Ggt		ATPase, class V, type 10B							63.0	66.0	65.0					5																	160047762		2171	4272	6443	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047762T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2008A>G	5.37:g.160047762T>C	ENSP00000313600:p.Ser670Gly					CTC-348L5.1_ENST00000523598.1_RNA	p.S670G	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2854	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	670					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2008A>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	7.982	0.751404	0.15778	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85484	-1.99;-1.99	5.36	4.22	0.49857	HAD-like domain (1);	0.492205	0.23028	N	0.052767	T	0.77572	0.4150	L	0.47716	1.5	0.09310	N	0.999992	B;B	0.15141	0.0;0.012	B;B	0.14578	0.002;0.011	T	0.62201	-0.6904	9	.	.	.	.	7.2326	0.26051	0.0:0.1539:0.0:0.8461	.	278;670	Q2YDW8;O94823	.;AT10B_HUMAN	G	670;278	ENSP00000313600:S670G;ENSP00000431081:S278G	.	S	-	1	0	ATP10B	159980340	0.513000	0.26194	0.889000	0.34880	0.106000	0.19336	2.686000	0.46968	2.042000	0.60477	0.533000	0.62120	AGT		0.582	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		6	66	0	0	0	1	0	6	66				
KCNT2	343450	broad.mit.edu	37	1	196300299	196300299	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196300299A>G	ENST00000294725.9	-	18	3005	c.2090T>C	c.(2089-2091)tTa>tCa	p.L697S	KCNT2_ENST00000451324.2_Missense_Mutation_p.L308S|KCNT2_ENST00000367433.5_Missense_Mutation_p.L697S|KCNT2_ENST00000609185.1_Missense_Mutation_p.L647S|KCNT2_ENST00000367431.4_Missense_Mutation_p.L647S|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	697					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTCTAATCTTAAGCAGCAAAA	0.294																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2089-2091)tTa>tCa		potassium channel, subfamily T, member 2							148.0	162.0	157.0					1																	196300299		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196300299A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2090T>C	1.37:g.196300299A>G	ENSP00000294725:p.Leu697Ser					KCNT2_ENST00000451324.2_Missense_Mutation_p.L308S|KCNT2_ENST00000294725.8_Missense_Mutation_p.L697S|KCNT2_ENST00000367431.4_Missense_Mutation_p.L647S|KCNT2_ENST00000498426.1_5'UTR	p.L697S			Q6UVM3	KCNT2_HUMAN			18	2191	-			697					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2090T>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100985	0.76983	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.26	5.26	0.73747	.	0.000000	0.48286	D	0.000190	D	0.90920	0.7146	M	0.89534	3.04	0.58432	D	0.999997	D;D;D;D;D	0.69078	0.975;0.997;0.997;0.997;0.975	P;D;D;D;P	0.73380	0.864;0.972;0.98;0.98;0.864	D	0.91810	0.5459	10	0.46703	T	0.11	-14.2586	15.3291	0.74193	1.0:0.0:0.0:0.0	.	697;679;697;647;697	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	697;647;518;308;697	ENSP00000356403:L697S;ENSP00000356401:L647S;ENSP00000405474:L308S;ENSP00000294725:L697S	ENSP00000294725:L697S	L	-	2	0	KCNT2	194566922	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.139000	0.94554	2.216000	0.71823	0.397000	0.26171	TTA		0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		12	215	0	0	0	1	0	12	215				
TBC1D16	125058	broad.mit.edu	37	17	77921465	77921465	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77921465G>A	ENST00000310924.2	-	9	1822	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	TBC1D16_ENST00000570373.1_Silent_p.D208D|TBC1D16_ENST00000340848.7_Silent_p.D207D|TBC1D16_ENST00000572862.1_Silent_p.D207D|TBC1D16_ENST00000576768.1_Silent_p.D194D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	569	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCATGTCCTCGTCCCGGGGTG	0.607																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(1705-1707)gaC>gaT		TBC1 domain family, member 16							151.0	113.0	126.0					17																	77921465		2203	4300	6503	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77921465G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1707C>T	17.37:g.77921465G>A						TBC1D16_ENST00000570373.1_Silent_p.D208D|TBC1D16_ENST00000576768.1_Silent_p.D194D|TBC1D16_ENST00000572862.1_Silent_p.D207D|TBC1D16_ENST00000340848.7_Silent_p.D207D	p.D569D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		9	1822	-	all_neural(118;0.167)		569			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.1707C>T	CCDS11766.1																																																																																				0.607	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		14	30	0	0	0	1	0	14	30				
PCDHB14	56122	broad.mit.edu	37	5	140604400	140604400	+	Silent	SNP	C	C	T	rs201193080		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140604400C>T	ENST00000239449.4	+	1	1323	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	PCDHB14_ENST00000515856.2_Silent_p.L288L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	441	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGCTCTCTGACGTCA	0.582																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1321-1323)ctC>ctT									158.0	150.0	153.0					5																	140604400		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604400C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1323C>T	5.37:g.140604400C>T						PCDHB14_ENST00000515856.2_Silent_p.L288L	p.L441L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1323	+			441			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1323C>T	CCDS4256.1																																																																																				0.582	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		43	77	0	0	0	1	0	43	77				
SNX17	9784	broad.mit.edu	37	2	27597589	27597589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27597589G>T	ENST00000233575.2	+	8	867	c.645G>T	c.(643-645)atG>atT	p.M215I	SNX17_ENST00000542478.1_Start_Codon_SNP_p.M1I|SNX17_ENST00000537606.1_Missense_Mutation_p.M190I|SNX17_ENST00000543024.1_Start_Codon_SNP_p.M1I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	215	FERM-like.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGATGTCATGGAGAACCGGG	0.522																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(643-645)atG>atT		sorting nexin 17							180.0	166.0	171.0					2																	27597589		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27597589G>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.645G>T	2.37:g.27597589G>T	ENSP00000233575:p.Met215Ile					SNX17_ENST00000543024.1_Start_Codon_SNP_p.M1I|SNX17_ENST00000537606.1_Missense_Mutation_p.M190I|SNX17_ENST00000542478.1_Start_Codon_SNP_p.M1I	p.M215I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			8	867	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		215					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.645G>T	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988718	0.53934	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.35236	1.9;1.32;1.47;1.32	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.55103	1.725	0.80722	D	1	B;B;B;B	0.30824	0.009;0.006;0.006;0.296	B;B;B;B	0.19946	0.007;0.003;0.003;0.027	T	0.10177	-1.0641	10	0.38643	T	0.18	-16.2084	15.1475	0.72667	0.0:0.0:1.0:0.0	.	190;203;195;215	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	I	215;1;190;1	ENSP00000233575:M215I;ENSP00000441779:M1I;ENSP00000439208:M190I;ENSP00000442567:M1I	ENSP00000233575:M215I	M	+	3	0	SNX17	27451093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.601000	0.74136	2.607000	0.88179	0.561000	0.74099	ATG		0.522	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		7	87	1	0	5.68852e-11	1	7.05143e-11	7	87				
GSC2	2928	broad.mit.edu	37	22	19137263	19137263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19137263C>A	ENST00000086933.2	-	2	425	c.426G>T	c.(424-426)gaG>gaT	p.E142D		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	142					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					CGAAAAGCGCCTCGAGCGCCT	0.721																																						ENST00000086933.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(424-426)gaG>gaT		goosecoid homeobox 2							9.0	11.0	11.0					22																	19137263		2144	4225	6369	SO:0001583	missense	2928				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19137263C>A		CCDS13757.1	22q11.21	2011-06-20	2007-08-28	2007-08-28	ENSG00000063515	ENSG00000063515		"""Homeoboxes / PRD class"""	4613	protein-coding gene	gene with protein product		601845	"""goosecoid-like"""	GSCL		9150167	Standard	NM_005315		Approved		uc011ags.2	O15499	OTTHUMG00000150122	ENST00000086933.2:c.426G>T	22.37:g.19137263C>A	ENSP00000086933:p.Glu142Asp						p.E142D	NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN			2	425	-	Colorectal(54;0.0993)		142						Missense_Mutation	SNP	ENST00000086933.2	37	c.426G>T	CCDS13757.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.382766	0.82792	.	.	ENSG00000063515	ENST00000086933	D	0.97791	-4.54	4.55	2.45	0.29901	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	M	0.92604	3.325	0.53005	D	0.999967	D	0.76494	0.999	D	0.87578	0.998	D	0.98374	1.0555	10	0.87932	D	0	-18.691	8.583	0.33642	0.0:0.7674:0.0:0.2326	.	142	O15499	GSC2_HUMAN	D	142	ENSP00000086933:E142D	ENSP00000086933:E142D	E	-	3	2	GSC2	17517263	0.998000	0.40836	1.000000	0.80357	0.882000	0.50991	1.437000	0.34991	0.476000	0.27440	0.450000	0.29827	GAG		0.721	GSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316440.2	NM_005315		5	3	1	0	0.184627	1	0.186383	5	3				
PIK3CB	5291	broad.mit.edu	37	3	138426069	138426069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138426069C>T	ENST00000477593.1	-	10	1535	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A488T|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	488	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AAAGCTGTTGCATTTTCAGTA	0.313																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1462-1464)Gca>Aca		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							103.0	103.0	103.0					3																	138426069		2203	4299	6502	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138426069C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1462G>A	3.37:g.138426069C>T	ENSP00000418143:p.Ala488Thr					PIK3CB_ENST00000289153.2_Missense_Mutation_p.A488T|PIK3CB_ENST00000544716.1_Intron	p.A488T			P42338	PK3CB_HUMAN			10	1535	-			488					D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1462G>A	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.863545|2.863545	0.51482|0.51482	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000289153|ENST00000493568	T;T|.	0.70986|.	-0.53;-0.53|.	5.84|5.84	5.84|5.84	0.93424|0.93424	C2 calcium/lipid-binding domain, CaLB (1);|.	0.051402|.	0.85682|.	D|.	0.000000|.	T|T	0.42359|0.42359	0.1199|0.1199	N|N	0.12920|0.12920	0.275|0.275	0.80722|0.80722	D|D	1|1	B;B|.	0.29531|.	0.247;0.023|.	B;B|.	0.33960|.	0.173;0.042|.	T|T	0.28996|0.28996	-1.0026|-1.0026	10|5	0.30078|.	T|.	0.28|.	-11.0113|-11.0113	13.3461|13.3461	0.60573|0.60573	0.0:0.9281:0.0:0.0719|0.0:0.9281:0.0:0.0719	.|.	488;92|.	P42338;B4DZI3|.	PK3CB_HUMAN;.|.	T|I	488|136	ENSP00000418143:A488T;ENSP00000289153:A488T|.	ENSP00000289153:A488T|.	A|M	-|-	1|3	0|0	PIK3CB|PIK3CB	139908759|139908759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.542000|0.542000	0.35054|0.35054	5.570000|5.570000	0.67398|0.67398	2.758000|2.758000	0.94735|0.94735	0.591000|0.591000	0.81541|0.81541	GCA|ATG		0.313	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			8	47	0	0	0	1	0	8	47				
INVS	27130	broad.mit.edu	37	9	103027136	103027136	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103027136T>C	ENST00000262457.2	+	11	1682	c.1497T>C	c.(1495-1497)aaT>aaC	p.N499N	INVS_ENST00000541287.1_Silent_p.N403N|INVS_ENST00000262456.2_Silent_p.N499N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	499					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCTGCAACAATGGATACCTTG	0.343																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1495-1497)aaT>aaC		inversin							146.0	133.0	138.0					9																	103027136		2203	4300	6503	SO:0001819	synonymous_variant	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103027136T>C	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1497T>C	9.37:g.103027136T>C						INVS_ENST00000262456.2_Silent_p.N499N|INVS_ENST00000541287.1_Silent_p.N403N	p.N499N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			11	1682	+		Acute lymphoblastic leukemia(62;0.056)	499					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	c.1497T>C	CCDS6746.1																																																																																				0.343	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		28	44	0	0	0	1	0	28	44				
KIF20B	9585	broad.mit.edu	37	10	91484805	91484805	+	Silent	SNP	T	T	C	rs199544938		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91484805T>C	ENST00000371728.3	+	15	1956	c.1891T>C	c.(1891-1893)Tta>Cta	p.L631L	KIF20B_ENST00000416354.1_Silent_p.L631L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L631L|KIF20B_ENST00000394289.2_Silent_p.L631L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	631					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACGAGAGATATTAGAAGAAAA	0.358													T|||	1	0.000199681	0.0	0.0	5008	,	,		17351	0.001		0.0	False		,,,				2504	0.0					ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1891-1893)Tta>Cta		kinesin family member 20B							119.0	122.0	121.0					10																	91484805		2203	4300	6503	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91484805T>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1891T>C	10.37:g.91484805T>C						KIF20B_ENST00000394289.2_Silent_p.L631L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.L631L|KIF20B_ENST00000260753.4_Silent_p.L631L	p.L631L			Q96Q89	KI20B_HUMAN			15	1963	+			631					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1891T>C																																																																																					0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		39	49	0	0	0	1	0	39	49				
BCAT1	586	broad.mit.edu	37	12	25002836	25002836	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25002836G>T	ENST00000261192.7	-	6	1084	c.558C>A	c.(556-558)ctC>ctA	p.L186L	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Silent_p.L149L|BCAT1_ENST00000538118.1_Silent_p.L185L|BCAT1_ENST00000342945.5_Silent_p.L125L|BCAT1_ENST00000539282.1_Silent_p.L198L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	186					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CTGGGCTCAAGAGTACAAAGA	0.468																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(556-558)ctC>ctA		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						81.0	80.0	80.0					12																	25002836		1838	4086	5924	SO:0001819	synonymous_variant	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25002836G>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.558C>A	12.37:g.25002836G>T						BCAT1_ENST00000539282.1_Silent_p.L198L|BCAT1_ENST00000538118.1_Silent_p.L185L|BCAT1_ENST00000342945.5_Silent_p.L125L|BCAT1_ENST00000539780.1_Silent_p.L149L|BCAT1_ENST00000544418.1_5'UTR	p.L186L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			6	1084	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		186					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Silent	SNP	ENST00000261192.7	37	c.558C>A	CCDS44845.1																																																																																				0.468	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		18	36	1	0	6.49762e-13	1	8.19883e-13	18	36				
DUSP12	11266	broad.mit.edu	37	1	161723043	161723043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161723043G>T	ENST00000367943.4	+	5	885	c.853G>T	c.(853-855)Gat>Tat	p.D285Y		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	285					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGGAGTGATGGATGGACAGGT	0.358																																						ENST00000367943.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)	5						c.(853-855)Gat>Tat		dual specificity phosphatase 12							233.0	195.0	208.0					1																	161723043		2203	4300	6503	SO:0001583	missense	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161723043G>T	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.853G>T	1.37:g.161723043G>T	ENSP00000356920:p.Asp285Tyr					DUSP12_ENST00000484291.1_3'UTR	p.D285Y	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	885	+	all_hematologic(112;0.0359)		285					Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	c.853G>T	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934109	0.73442	.	.	ENSG00000081721	ENST00000367943	T	0.04194	3.68	5.72	5.72	0.89469	.	0.341069	0.28964	N	0.013564	T	0.13798	0.0334	M	0.72118	2.19	0.47308	D	0.999381	D	0.89917	1.0	D	0.66196	0.942	T	0.00239	-1.1888	9	0.87932	D	0	.	17.365	0.87360	0.0:0.0:1.0:0.0	.	285	Q9UNI6	DUS12_HUMAN	Y	285	ENSP00000356920:D285Y	ENSP00000356920:D285Y	D	+	1	0	DUSP12	159989667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.257000	0.72480	2.689000	0.91719	0.591000	0.81541	GAT		0.358	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		11	119	1	0	9.70103e-10	1	1.18443e-09	11	119				
FAM53B	9679	broad.mit.edu	37	10	126311927	126311927	+	Missense_Mutation	SNP	C	C	T	rs140442850	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126311927C>T	ENST00000337318.3	-	5	1364	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	385										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCACAATCCTCGTCCAGGGCG	0.682																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1153-1155)Gag>Aag		family with sequence similarity 53, member B		C	LYS/GLU	0,4400		0,0,2200	22.0	24.0	24.0		1153	3.0	0.2	10	dbSNP_134	24	2,8594		0,2,4296	yes	missense	FAM53B	NM_014661.3	56	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	385/423	126311927	2,12994	2200	4298	6498	SO:0001583	missense	9679							g.chr10:126311927C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1153G>A	10.37:g.126311927C>T	ENSP00000338532:p.Glu385Lys					FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K|RP11-12J10.3_ENST00000494792.1_Intron	p.E385K	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1364	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	385					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1153G>A	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025506	0.19512	0.0	2.33E-4	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	4.89	3.0	0.34707	.	0.622254	0.14717	N	0.302565	T	0.30417	0.0764	L	0.44542	1.39	0.21147	N	0.99977	P	0.35700	0.516	B	0.28139	0.086	T	0.15122	-1.0448	9	0.48119	T	0.1	-22.5122	8.9129	0.35563	0.0:0.8252:0.0:0.1748	.	385	Q14153	FA53B_HUMAN	K	385	.	ENSP00000338532:E385K	E	-	1	0	FAM53B	126301917	0.056000	0.20664	0.171000	0.22900	0.045000	0.14185	2.153000	0.42282	1.291000	0.44653	0.655000	0.94253	GAG		0.682	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		8	14	0	0	0	1	0	8	14				
PSMB8	5696	broad.mit.edu	37	6	32810845	32810845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32810845G>T	ENST00000374882.3	-	2	219	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000395339.3_Missense_Mutation_p.L57M|TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000374881.2_Missense_Mutation_p.L53M	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCCCCACCCAGGGACTGGAAG	0.488																																					NSCLC(48;53 1172 10859 13624 22883)	ENST00000374881.2																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						c.(157-159)Ctg>Atg		proteasome (prosome, macropain) subunit, beta type, 8							73.0	71.0	72.0					6																	32810845		1511	2709	4220	SO:0001583	missense	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32810845G>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.169C>A	6.37:g.32810845G>T	ENSP00000364016:p.Leu57Met					PSMB8_ENST00000395339.3_Missense_Mutation_p.L57M|PSMB8_ENST00000374882.3_Missense_Mutation_p.L57M	p.L53M	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN			2	446	-			57					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.157C>A	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	G	7.064	0.567019	0.13560	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.42900	0.96;1.71;1.72	5.91	3.1	0.35709	.	0.556675	0.18693	N	0.133808	T	0.40196	0.1107	M	0.72894	2.215	0.09310	N	1	D;B;B	0.69078	0.997;0.106;0.031	D;B;B	0.66979	0.948;0.089;0.044	T	0.22347	-1.0219	10	0.29301	T	0.29	-10.0398	7.5814	0.27967	0.1345:0.1432:0.7223:0.0	.	57;53;57	B7Z6U7;P28062-2;P28062	.;.;PSB8_HUMAN	M	57;57;53	ENSP00000378748:L57M;ENSP00000364016:L57M;ENSP00000364015:L53M	ENSP00000364015:L53M	L	-	1	2	PSMB8	32918823	0.993000	0.37304	0.006000	0.13384	0.107000	0.19398	1.604000	0.36804	0.365000	0.24400	0.643000	0.83706	CTG		0.488	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		5	30	1	0	2.0095e-06	1	2.31757e-06	5	30				
UNC5CL	222643	broad.mit.edu	37	6	41000828	41000828	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41000828C>T	ENST00000373164.1	-	3	804	c.744G>A	c.(742-744)caG>caA	p.Q248Q	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Silent_p.Q248Q			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	248	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATACGGCCAGCTGCAGCCATT	0.622																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(742-744)caG>caA		unc-5 homolog C (C. elegans)-like							44.0	39.0	41.0					6																	41000828		2201	4299	6500	SO:0001819	synonymous_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41000828C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.744G>A	6.37:g.41000828C>T						UNC5CL_ENST00000373164.1_Silent_p.Q248Q	p.Q248Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			4	832	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		248			Interaction with RELA and NFKB1.		Q5TGU1	Silent	SNP	ENST00000373164.1	37	c.744G>A	CCDS4847.1																																																																																				0.622	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		5	9	0	0	0	1	0	5	9				
ENO1	2023	broad.mit.edu	37	1	8930530	8930530	+	Missense_Mutation	SNP	G	G	A	rs369657785		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8930530G>A	ENST00000234590.4	-	4	340	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	74					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGCAGGCGCAATAGTTTT	0.458																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(220-222)gCg>gTg		enolase 1, (alpha)							94.0	82.0	86.0					1																	8930530		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8930530G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.221C>T	1.37:g.8930530G>A	ENSP00000234590:p.Ala74Val						p.A74V	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	4	340	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	74					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.221C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677741	0.68042	.	.	ENSG00000074800	ENST00000234590	T	0.33654	1.4	5.92	5.01	0.66863	Enolase, N-terminal (1);	0.155281	0.56097	D	0.000022	T	0.49338	0.1551	M	0.86343	2.81	0.51233	D	0.99991	B;B	0.32731	0.382;0.038	B;B	0.35770	0.21;0.018	T	0.55471	-0.8136	10	0.51188	T	0.08	-7.4396	16.2936	0.82761	0.0:0.1323:0.8677:0.0	.	41;74	A4UCS8;P06733	.;ENOA_HUMAN	V	74	ENSP00000234590:A74V	ENSP00000234590:A74V	A	-	2	0	ENO1	8853117	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	6.761000	0.74945	1.509000	0.48786	0.650000	0.86243	GCG		0.458	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		12	23	0	0	0	1	0	12	23				
SMS	6611	broad.mit.edu	37	X	21985378	21985378	+	Silent	SNP	G	G	A	rs138924455	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21985378G>A	ENST00000404933.2	+	2	366	c.114G>A	c.(112-114)tcG>tcA	p.S38S	SMS_ENST00000415881.2_De_novo_Start_OutOfFrame|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000379404.1_Silent_p.S38S	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	38					cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGGCGGAGTCGGTGCACACCT	0.517																																						ENST00000415881.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14								spermine synthase	Spermine(DB00127)	G		0,3835		0,0,0,1632,571	69.0	61.0	64.0		114	-2.8	1.0	X	dbSNP_134	64	2,6721		0,1,1,2425,1870	no	coding-synonymous	SMS	NM_004595.3		0,1,1,4057,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189		38/367	21985378	2,10556	2203	4297	6500	SO:0001819	synonymous_variant	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21985378G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.114G>A	X.37:g.21985378G>A						SMS_ENST00000404933.2_Silent_p.S38S|SMS_ENST00000379404.1_Silent_p.S38S|SMS_ENST00000478094.1_3'UTR				P52788	SPSY_HUMAN			0	204	+								A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Translation_Start_Site	SNP	ENST00000404933.2	37		CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092326	0.20471	0.0	2.97E-4	ENSG00000102172	ENST00000457085	.	.	.	5.34	-2.83	0.05769	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39231	-0.9624	4	.	.	.	-22.6382	4.5121	0.11917	0.6128:0.115:0.1541:0.1181	.	.	.	.	S	130	.	.	G	+	1	0	SMS	21895299	0.099000	0.21834	0.961000	0.40146	0.854000	0.48673	-0.710000	0.05024	-0.397000	0.07691	-0.190000	0.12839	GGT		0.517	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		11	31	0	0	0	1	0	11	31				
ACTR2	10097	broad.mit.edu	37	2	65473760	65473760	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65473760C>A	ENST00000260641.5	+	3	419	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.L33M|ACTR2_ENST00000377982.4_Missense_Mutation_p.L93M	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	88					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						CATGAAACACCTGTGGGACTA	0.378																																						ENST00000260641.5																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						c.(262-264)Ctg>Atg		ARP2 actin-related protein 2 homolog (yeast)							142.0	148.0	146.0					2																	65473760		2203	4300	6503	SO:0001583	missense	10097				cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding	g.chr2:65473760C>A	AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.262C>A	2.37:g.65473760C>A	ENSP00000260641:p.Leu88Met					ACTR2_ENST00000542850.1_Missense_Mutation_p.L33M|ACTR2_ENST00000377982.4_Missense_Mutation_p.L93M|ACTR2_ENST00000476840.1_3'UTR	p.L88M	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN			3	419	+			88					B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	ENST00000260641.5	37	c.262C>A	CCDS1881.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786757	0.49997	.	.	ENSG00000138071	ENST00000260641;ENST00000542850;ENST00000377982;ENST00000535303	D;D;D	0.95690	-3.78;-3.78;-3.78	5.55	4.66	0.58398	.	0.000000	0.64402	D	0.000002	D	0.95831	0.8643	M	0.80508	2.5	0.51233	D	0.999918	B;B;B	0.22983	0.078;0.058;0.031	B;B;B	0.35688	0.099;0.208;0.133	D	0.95014	0.8154	10	0.87932	D	0	-3.3538	14.7854	0.69800	0.0:0.9293:0.0:0.0707	.	33;88;93	F5H6T1;P61160;E9PF41	.;ARP2_HUMAN;.	M	88;33;93;33	ENSP00000260641:L88M;ENSP00000437383:L33M;ENSP00000367220:L93M	ENSP00000260641:L88M	L	+	1	2	ACTR2	65327264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.263000	0.51546	2.620000	0.88729	0.561000	0.74099	CTG		0.378	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		11	134	1	0	0.000673444	1	0.000724755	11	134				
EBF2	64641	broad.mit.edu	37	8	25890667	25890667	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25890667C>T	ENST00000520164.1	-	6	1022	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	EBF2_ENST00000408929.3_Missense_Mutation_p.R14Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	162		Interaction with DNA. {ECO:0000250}.			adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCGCAGCATCGACTGTAGAT	0.398																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(484-486)cGa>cAa		early B-cell factor 2							120.0	119.0	120.0					8																	25890667		1940	4167	6107	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25890667C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.485G>A	8.37:g.25890667C>T	ENSP00000430241:p.Arg162Gln					EBF2_ENST00000408929.3_Missense_Mutation_p.R14Q	p.R162Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	6	1022	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	162				Interaction with DNA (By similarity).	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.485G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617581	0.96649	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.57907	0.38;0.37	5.87	5.87	0.94306	Transcription factor COE, conserved site (1);	0.166295	0.40554	U	0.001079	T	0.72708	0.3494	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72523	-0.4267	10	0.87932	D	0	-11.4845	20.5827	0.99408	0.0:1.0:0.0:0.0	.	162	Q9HAK2	COE2_HUMAN	Q	162;14	ENSP00000430241:R162Q;ENSP00000386178:R14Q	ENSP00000386178:R14Q	R	-	2	0	EBF2	25946584	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	CGA		0.398	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		17	50	0	0	0	1	0	17	50				
RYR2	6262	broad.mit.edu	37	1	237732539	237732539	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237732539T>C	ENST00000366574.2	+	29	3835	c.3518T>C	c.(3517-3519)aTg>aCg	p.M1173T	RYR2_ENST00000360064.6_Missense_Mutation_p.M1171T|RYR2_ENST00000542537.1_Missense_Mutation_p.M1157T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1173	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACACACCATGATGTTCACA	0.483																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3517-3519)aTg>aCg		ryanodine receptor 2 (cardiac)							175.0	173.0	174.0					1																	237732539		2068	4216	6284	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237732539T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3518T>C	1.37:g.237732539T>C	ENSP00000355533:p.Met1173Thr					RYR2_ENST00000542537.1_Missense_Mutation_p.M1157T|RYR2_ENST00000360064.6_Missense_Mutation_p.M1171T	p.M1173T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		29	3835	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1173			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3518T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.071898	0.76301	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69561	-0.41;-0.41;-0.41	6.17	5.05	0.67936	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.061536	0.64402	D	0.000014	T	0.73845	0.3639	M	0.75615	2.305	0.80722	D	1	D	0.53885	0.963	P	0.51453	0.67	T	0.76380	-0.2980	10	0.62326	D	0.03	.	12.1877	0.54250	0.0:0.0658:0.0:0.9342	.	1173	Q92736	RYR2_HUMAN	T	1173;1171;1157	ENSP00000355533:M1173T;ENSP00000353174:M1171T;ENSP00000443798:M1157T	ENSP00000353174:M1171T	M	+	2	0	RYR2	235799162	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.933000	0.70130	1.166000	0.42689	0.533000	0.62120	ATG		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	26	0	0	0	1	0	8	26				
PIM1	5292	broad.mit.edu	37	6	37139065	37139065	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139065A>G	ENST00000373509.5	+	4	778	c.405A>G	c.(403-405)gaA>gaG	p.E135E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TCATCACGGAAAGGGGAGCCC	0.632			T	BCL6	NHL																																	ENST00000373509.5				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30						c.(403-405)gaA>gaG		pim-1 oncogene	Adenosine monophosphate(DB00131)						74.0	87.0	83.0					6																	37139065		2203	4300	6503	SO:0001819	synonymous_variant	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37139065A>G		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.405A>G	6.37:g.37139065A>G							p.E135E	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		4	778	+			226			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	c.405A>G	CCDS4830.1																																																																																				0.632	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			17	103	0	0	0	1	0	17	103				
PRMT3	10196	broad.mit.edu	37	11	20515715	20515715	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20515715C>T	ENST00000331079.6	+	15	1618	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	PRMT3_ENST00000437750.2_Silent_p.V405V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	467	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAATTCAGGTCGTGTTCTCTA	0.373																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1399-1401)gtC>gtT		protein arginine methyltransferase 3							155.0	167.0	163.0					11																	20515715		2203	4300	6503	SO:0001819	synonymous_variant	10196						zinc ion binding	g.chr11:20515715C>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1401C>T	11.37:g.20515715C>T						PRMT3_ENST00000437750.2_Silent_p.V405V	p.V467V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			15	1618	+			467					B4DUC7	Silent	SNP	ENST00000331079.6	37	c.1401C>T	CCDS7853.1																																																																																				0.373	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		93	157	0	0	0	1	0	93	157				
SMARCD1	6602	broad.mit.edu	37	12	50490635	50490635	+	Silent	SNP	C	C	T	rs201193664		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50490635C>T	ENST00000394963.4	+	11	1670	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SMARCD1_ENST00000548573.1_Silent_p.I222I|SMARCD1_ENST00000381513.4_Intron	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTTTCAGATCCATGAGACAA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		21044	0.0		0.001	False		,,,				2504	0.0					ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1270-1272)atC>atT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1							65.0	61.0	62.0					12																	50490635		2203	4300	6503	SO:0001819	synonymous_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50490635C>T	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1272C>T	12.37:g.50490635C>T						SMARCD1_ENST00000381513.4_Intron|SMARCD1_ENST00000548573.1_Silent_p.I222I	p.I424I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			11	1670	+			424			Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.			Silent	SNP	ENST00000394963.4	37	c.1272C>T	CCDS8797.2																																																																																				0.458	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		22	25	0	0	0	1	0	22	25				
COL7A1	1294	broad.mit.edu	37	3	48629795	48629795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48629795C>T	ENST00000328333.8	-	8	1189	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R361Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	361	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTGAGGACCCGCCATGTCAC	0.632																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1081-1083)cGg>cAg		collagen, type VII, alpha 1							33.0	32.0	32.0					3																	48629795		2203	4299	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629795C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1082G>A	3.37:g.48629795C>T	ENSP00000332371:p.Arg361Gln					COL7A1_ENST00000454817.1_Missense_Mutation_p.R361Q	p.R361Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1189	-			361			Fibronectin type-III 2.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1082G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	8.263	0.811520	0.16537	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57436	0.4;0.4	3.55	2.67	0.31697	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.401484	0.17166	N	0.184447	T	0.36580	0.0972	L	0.35723	1.085	0.21933	N	0.999466	B	0.19331	0.035	B	0.09377	0.004	T	0.17319	-1.0373	10	0.36615	T	0.2	.	5.1672	0.15092	0.0:0.6697:0.212:0.1182	.	361	Q02388	CO7A1_HUMAN	Q	361	ENSP00000332371:R361Q;ENSP00000412569:R361Q	ENSP00000332371:R361Q	R	-	2	0	COL7A1	48604799	0.743000	0.28239	0.878000	0.34440	0.823000	0.46562	1.696000	0.37773	0.855000	0.35359	-0.379000	0.06801	CGG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		11	8	0	0	0	1	0	11	8				
DENND2C	163259	broad.mit.edu	37	1	115153703	115153703	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115153703G>A	ENST00000393274.1	-	9	1985	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	DENND2C_ENST00000393277.1_Silent_p.L454L|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.L397L	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	454					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTGGCAGATACTCGGCA	0.463																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1360-1362)Ctg>Ttg		DENN/MADD domain containing 2C							297.0	223.0	248.0					1																	115153703		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115153703G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1360C>T	1.37:g.115153703G>A						DENND2C_ENST00000393276.3_Silent_p.L397L|DENND2C_ENST00000393277.1_Silent_p.L454L|DENND2C_ENST00000481894.1_5'UTR	p.L454L	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1985	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	454					B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.1360C>T	CCDS58018.1																																																																																				0.463	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		16	39	0	0	0	1	0	16	39				
HUWE1	10075	broad.mit.edu	37	X	53654813	53654813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53654813G>A	ENST00000342160.3	-	15	1717	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	HUWE1_ENST00000218328.8_Silent_p.G420G|HUWE1_ENST00000262854.6_Silent_p.G420G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	420					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTTCATCGCCAAGAAACT	0.393																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1258-1260)ggC>ggT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							87.0	72.0	77.0					X																	53654813		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53654813G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1260C>T	X.37:g.53654813G>A						HUWE1_ENST00000262854.6_Silent_p.G420G|HUWE1_ENST00000218328.8_Silent_p.G420G	p.G420G			Q7Z6Z7	HUWE1_HUMAN			15	1717	-			420					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.1260C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	g	2.385	-0.341226	0.05243	.	.	ENSG00000086758	ENST00000424562	.	.	.	4.85	-9.7	0.00521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3583	0.11190	0.5487:0.0634:0.1772:0.2107	.	.	.	.	X	18	.	.	R	-	1	2	HUWE1	53671538	0.000000	0.05858	0.061000	0.19648	0.615000	0.37417	-2.192000	0.01245	-4.335000	0.00055	-2.906000	0.00092	CGA		0.393	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		18	23	0	0	0	1	0	18	23				
TRPS1	7227	broad.mit.edu	37	8	116631978	116631978	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:116631978T>C	ENST00000220888.5	-	2	467	c.308A>G	c.(307-309)gAt>gGt	p.D103G	TRPS1_ENST00000520276.1_Missense_Mutation_p.D107G|TRPS1_ENST00000519674.1_Missense_Mutation_p.D103G|TRPS1_ENST00000395715.3_Missense_Mutation_p.D116G|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	103					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTCACCTCATCATGCGGAAA	0.502									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(346-348)gAt>gGt		trichorhinophalangeal syndrome I							78.0	75.0	76.0					8																	116631978		1922	4138	6060	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631978T>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.308A>G	8.37:g.116631978T>C	ENSP00000220888:p.Asp103Gly					TRPS1_ENST00000220888.5_Missense_Mutation_p.D103G|TRPS1_ENST00000520276.1_Missense_Mutation_p.D107G|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.D103G	p.D116G	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	924	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		103					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.347A>G		.	.	.	.	.	.	.	.	.	.	T	18.15	3.559136	0.65538	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674;ENST00000395713	D;D;D;T	0.98684	-5.07;-5.04;-5.04;0.77	5.82	5.82	0.92795	.	0.202991	0.39341	N	0.001381	D	0.97939	0.9322	N	0.19112	0.55	0.40105	D	0.976416	P;P;D	0.64830	0.844;0.759;0.994	B;B;D	0.68039	0.445;0.259;0.955	D	0.99912	1.1206	10	0.72032	D	0.01	0.6154	14.7517	0.69530	0.0:0.0:0.0:1.0	.	107;103;116	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	G	116;103;107;103;116	ENSP00000379065:D116G;ENSP00000220888:D103G;ENSP00000428680:D107G;ENSP00000429174:D103G	ENSP00000220888:D103G	D	-	2	0	TRPS1	116701153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.537000	0.60643	2.221000	0.72209	0.528000	0.53228	GAT		0.502	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		3	84	0	0	0	1	0	3	84				
MAOA	4128	broad.mit.edu	37	X	43542816	43542816	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:43542816A>C	ENST00000338702.3	+	2	252	c.129A>C	c.(127-129)gaA>gaC	p.E43D	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	43					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TGGTTTTAGAAGCTCGGGACA	0.368																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(127-129)gaA>gaC		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						178.0	150.0	160.0					X																	43542816		2203	4300	6503	SO:0001583	missense	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43542816A>C		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.129A>C	X.37:g.43542816A>C	ENSP00000340684:p.Glu43Asp					MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	p.E43D	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			2	252	+			43					B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	c.129A>C	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649223	0.67358	.	.	ENSG00000189221	ENST00000338702	D	0.99541	-6.12	5.49	3.06	0.35304	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98832	1.0751	10	0.87932	D	0	.	9.0793	0.36542	0.8337:0.0:0.1663:0.0	.	43	P21397	AOFA_HUMAN	D	43	ENSP00000340684:E43D	ENSP00000340684:E43D	E	+	3	2	MAOA	43427760	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	0.760000	0.26475	0.822000	0.34565	0.483000	0.47432	GAA		0.368	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		5	103	0	0	0	1	0	5	103				
AHNAK	79026	broad.mit.edu	37	11	62289319	62289319	+	Missense_Mutation	SNP	T	T	G	rs543898719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289319T>G	ENST00000378024.4	-	5	12844	c.12570A>C	c.(12568-12570)aaA>aaC	p.K4190N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4190					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTCACTTTGGGCATTT	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12568-12570)aaA>aaC		AHNAK nucleoprotein							214.0	220.0	218.0					11																	62289319		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289319T>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12570A>C	11.37:g.62289319T>G	ENSP00000367263:p.Lys4190Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4190N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12844	-		Melanoma(852;0.155)	4190					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12570A>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	8.350	0.830587	0.16820	.	.	ENSG00000124942	ENST00000378024	T	0.02606	4.23	4.54	-0.942	0.10398	.	0.000000	0.38326	U	0.001740	T	0.15132	0.0365	M	0.91249	3.19	0.34763	D	0.732977	D	0.89917	1.0	D	0.91635	0.999	T	0.07809	-1.0753	10	0.39692	T	0.17	.	10.533	0.44988	0.0:0.6772:0.0:0.3228	.	4190	Q09666	AHNK_HUMAN	N	4190	ENSP00000367263:K4190N	ENSP00000367263:K4190N	K	-	3	2	AHNAK	62045895	0.000000	0.05858	0.973000	0.42090	0.076000	0.17211	-2.758000	0.00787	-0.178000	0.10672	-1.844000	0.00574	AAA		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		122	155	0	0	0	1	0	122	155				
GP1BA	2811	broad.mit.edu	37	17	4836289	4836289	+	Silent	SNP	G	G	A	rs181416431		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4836289G>A	ENST00000329125.5	+	2	465	c.390G>A	c.(388-390)tcG>tcA	p.S130S		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	130					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GGCTGACCTCGCTGCCTCTTG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19523	0.0		0.0	False		,,,				2504	0.0					ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(388-390)tcG>tcA		glycoprotein Ib (platelet), alpha polypeptide		G		0,4324		0,0,2162	83.0	85.0	84.0		390	-9.3	0.0	17		84	1,8503		0,1,4251	no	coding-synonymous	GP1BA	NM_000173.5		0,1,6413	AA,AG,GG		0.0118,0.0,0.0078		130/653	4836289	1,12827	2162	4252	6414	SO:0001819	synonymous_variant	2811							g.chr17:4836289G>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.390G>A	17.37:g.4836289G>A							p.S130S	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	465	+			130					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	c.390G>A	CCDS54068.1																																																																																				0.612	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			33	43	0	0	0	1	0	33	43				
RBBP7	5931	broad.mit.edu	37	X	16863952	16863952	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16863952A>G	ENST00000380087.2	-	11	1568	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	RBBP7_ENST00000404022.1_Splice_Site_p.M394T|RBBP7_ENST00000380084.4_Splice_Site_p.M447T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	403					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTAACTCACCATTTGCCATAT	0.363																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.e11+1		retinoblastoma binding protein 7							74.0	66.0	69.0					X																	16863952		2203	4300	6503	SO:0001630	splice_region_variant	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16863952A>G	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1209+1T>C	X.37:g.16863952A>G						RBBP7_ENST00000380084.4_Splice_Site_p.M447_splice|RBBP7_ENST00000404022.1_Splice_Site_p.M394_splice	p.M403_splice			Q16576	RBBP7_HUMAN			11	1568	-	Hepatocellular(33;0.0997)		403					Q5JP00	Splice_Site	SNP	ENST00000380087.2	37	c.1209_splice	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683836	0.68157	.	.	ENSG00000102054	ENST00000425696;ENST00000380087;ENST00000380084;ENST00000404022	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.035584	0.85682	D	0.000000	D	0.82508	0.5052	M	0.91038	3.17	0.80722	D	1	P;P;P	0.46327	0.609;0.876;0.759	D;D;D	0.67725	0.916;0.953;0.953	D	0.86125	0.1571	10	0.87932	D	0	-31.5578	13.425	0.61020	1.0:0.0:0.0:0.0	.	394;403;447	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	T	63;403;447;394	ENSP00000415747:M63T;ENSP00000369427:M403T;ENSP00000369424:M447T;ENSP00000386068:M394T	ENSP00000369424:M447T	M	-	2	0	RBBP7	16773873	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.216000	0.95154	1.833000	0.53350	0.486000	0.48141	ATG		0.363	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	Missense_Mutation	5	51	0	0	0	1	0	5	51				
GIMAP6	474344	broad.mit.edu	37	7	150327221	150327221	+	Nonsense_Mutation	SNP	C	C	A	rs542950952	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150327221C>A	ENST00000328902.5	-	2	226	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	GIMAP6_ENST00000493969.1_Nonsense_Mutation_p.E4*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	4						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATATTCTTCTTCCTCCATC	0.433																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(10-12)Gaa>Taa		GTPase, IMAP family member 6							86.0	89.0	88.0					7																	150327221		2203	4300	6503	SO:0001587	stop_gained	474344						GTP binding	g.chr7:150327221C>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.10G>T	7.37:g.150327221C>A	ENSP00000330374:p.Glu4*					GIMAP6_ENST00000493969.1_Nonsense_Mutation_p.E4*	p.E4*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	226	-			4					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Nonsense_Mutation	SNP	ENST00000328902.5	37	c.10G>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	c	17.24	3.339453	0.60963	.	.	ENSG00000133561	ENST00000328902;ENST00000477013;ENST00000493969	.	.	.	2.55	1.58	0.23477	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	4.3552	0.11174	0.0:0.7798:0.0:0.2202	.	.	.	.	X	4	.	ENSP00000330374:E4X	E	-	1	0	GIMAP6	149958154	0.001000	0.12720	0.037000	0.18230	0.101000	0.19017	0.786000	0.26844	0.589000	0.29677	0.556000	0.70494	GAA		0.433	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		18	75	1	0	0.000566183	1	0.000614449	18	75				
IRAK3	11213	broad.mit.edu	37	12	66638420	66638420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66638420C>T	ENST00000261233.4	+	9	1463	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.Q287*	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GTACATCAGACAGGGGAAACT	0.428																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1042-1044)Cag>Tag		interleukin-1 receptor-associated kinase 3							117.0	106.0	110.0					12																	66638420		2203	4300	6503	SO:0001587	stop_gained	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638420C>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1042C>T	12.37:g.66638420C>T	ENSP00000261233:p.Gln348*					IRAK3_ENST00000457197.2_Nonsense_Mutation_p.Q287*	p.Q348*	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	9	1463	+			348			Protein kinase.			Nonsense_Mutation	SNP	ENST00000261233.4	37	c.1042C>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	36	5.949560	0.97134	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	.	.	.	5.84	5.84	0.93424	.	0.220746	0.37761	N	0.001949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0974	15.6347	0.76944	0.0:1.0:0.0:0.0	.	.	.	.	X	348;287	.	.	Q	+	1	0	IRAK3	64924687	0.985000	0.35326	0.983000	0.44433	0.016000	0.09150	2.508000	0.45450	2.765000	0.95021	0.655000	0.94253	CAG		0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			5	90	0	0	0	1	0	5	90				
AKNAD1	254268	broad.mit.edu	37	1	109394579	109394579	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394579C>A	ENST00000370001.3	-	2	976	c.708G>T	c.(706-708)caG>caT	p.Q236H	AKNAD1_ENST00000369994.1_Missense_Mutation_p.Q236H|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.Q236H	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	236						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTCAGTCTGCTGTTTCTGGG	0.418																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(706-708)caG>caT		AKNA domain containing 1							146.0	144.0	145.0					1																	109394579		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109394579C>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.708G>T	1.37:g.109394579C>A	ENSP00000359018:p.Gln236His					AKNAD1_ENST00000369994.1_Missense_Mutation_p.Q236H|AKNAD1_ENST00000369995.3_Missense_Mutation_p.Q236H|AKNAD1_ENST00000357393.4_Intron	p.Q236H	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			2	976	-			236					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.708G>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270164	0.40194	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.08193	3.13;3.14;3.12	5.74	1.38	0.22167	.	0.639166	0.14291	N	0.328937	T	0.05914	0.0154	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.61328	0.887	T	0.21008	-1.0258	10	0.48119	T	0.1	-1.7888	0.8951	0.01262	0.1712:0.4057:0.1692:0.2539	.	236	Q5T1N1	AKND1_HUMAN	H	236	ENSP00000359018:Q236H;ENSP00000359011:Q236H;ENSP00000359012:Q236H	ENSP00000359011:Q236H	Q	-	3	2	AKNAD1	109196102	0.000000	0.05858	0.117000	0.21633	0.026000	0.11368	0.160000	0.16462	0.356000	0.24157	0.655000	0.94253	CAG		0.418	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		15	206	1	0	3.45872e-05	1	3.88335e-05	15	206				
COL3A1	1281	broad.mit.edu	37	2	189868847	189868847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189868847C>T	ENST00000304636.3	+	39	2971	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	934	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GAGAAGGGATCGCCTGGTGCC	0.488																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2800-2802)tCg>tTg		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						31.0	37.0	35.0					2																	189868847		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868847C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2801C>T	2.37:g.189868847C>T	ENSP00000304408:p.Ser934Leu					COL3A1_ENST00000317840.5_Intron	p.S934L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2971	+			934			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2801C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693343	0.48202	.	.	ENSG00000168542	ENST00000304636	D	0.93906	-3.31	5.63	5.63	0.86233	.	0.490245	0.17031	N	0.189689	D	0.88760	0.6524	N	0.20881	0.62	0.30096	N	0.807901	B	0.23854	0.092	B	0.20577	0.03	T	0.78727	-0.2091	10	0.18276	T	0.48	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	934	P02461	CO3A1_HUMAN	L	934	ENSP00000304408:S934L	ENSP00000304408:S934L	S	+	2	0	COL3A1	189577092	0.000000	0.05858	0.290000	0.24890	0.430000	0.31655	1.171000	0.31896	2.659000	0.90383	0.643000	0.83706	TCG		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		13	26	0	0	0	1	0	13	26				
AKAP1	8165	broad.mit.edu	37	17	55183014	55183014	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55183014C>A	ENST00000337714.3	+	2	422	c.189C>A	c.(187-189)gtC>gtA	p.V63V	AKAP1_ENST00000539273.1_Silent_p.V63V|AKAP1_ENST00000314126.3_Silent_p.V63V|AKAP1_ENST00000572557.1_Silent_p.V63V|AKAP1_ENST00000571629.1_Silent_p.V63V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	63					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGAAGACGTCTGTCCCAAAG	0.602																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(187-189)gtC>gtA		A kinase (PRKA) anchor protein 1							69.0	63.0	65.0					17																	55183014		2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183014C>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.189C>A	17.37:g.55183014C>A						AKAP1_ENST00000539273.1_Silent_p.V63V|AKAP1_ENST00000572557.1_Silent_p.V63V|AKAP1_ENST00000571629.1_Silent_p.V63V|AKAP1_ENST00000314126.3_Silent_p.V63V	p.V63V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	422	+	Breast(9;5.46e-08)		63					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.189C>A	CCDS11594.1																																																																																				0.602	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			8	21	1	0	0.00307968	1	0.00325696	8	21				
SLC38A1	81539	broad.mit.edu	37	12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T	rs373500724		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46594935C>T	ENST00000398637.5	-	13	1643	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	317					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.A317T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289																																						ENST00000398637.5																			1	Substitution - Missense(1)	p.A317T(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(949-951)Gcc>Acc		solute carrier family 38, member 1							68.0	63.0	64.0					12																	46594935		1811	4076	5887	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594935C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.949G>A	12.37:g.46594935C>T	ENSP00000381634:p.Ala317Thr					SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T	p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		13	1643	-	Lung SC(27;0.137)|Renal(347;0.236)		317					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.949G>A	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949829	0.73787	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34	5.53	3.61	0.41365	.	0.189006	0.36778	N	0.002415	T	0.02970	0.0088	N	0.25245	0.725	0.43642	D	0.996048	P;P;P	0.47762	0.9;0.87;0.784	P;P;B	0.44732	0.459;0.454;0.274	T	0.61287	-0.7093	10	0.38643	T	0.18	-16.7504	11.2565	0.49056	0.1286:0.8018:0.0:0.0696	.	317;317;317	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	T	317	ENSP00000449607:A317T;ENSP00000398142:A317T;ENSP00000381634:A317T;ENSP00000447853:A317T;ENSP00000449756:A317T	ENSP00000381634:A317T	A	-	1	0	SLC38A1	44881202	0.983000	0.35010	0.998000	0.56505	0.992000	0.81027	2.091000	0.41691	2.585000	0.87301	0.557000	0.71058	GCC		0.289	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			10	21	0	0	0	1	0	10	21				
ABCB4	5244	broad.mit.edu	37	7	87069024	87069024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87069024C>T	ENST00000265723.4	-	14	1801	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	ABCB4_ENST00000358400.3_Missense_Mutation_p.D564N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D564N|ABCB4_ENST00000545634.1_Missense_Mutation_p.D564N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D564N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	564	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		D -> G (in PFIC3). {ECO:0000269|PubMed:11313315}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTTCTGTGTCCAATGCTGAC	0.527																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1690-1692)Gac>Aac		ATP-binding cassette, sub-family B (MDR/TAP), member 4							150.0	132.0	138.0					7																	87069024		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069024C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1690G>A	7.37:g.87069024C>T	ENSP00000265723:p.Asp564Asn					ABCB4_ENST00000545634.1_Missense_Mutation_p.D564N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D564N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D564N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D564N	p.D564N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			14	1801	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		564		D -> G (in PFIC3).	ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1690G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520399	0.96416	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.93939	3.475	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.981	D;D;D	0.80764	0.994;0.944;0.91	D	0.99267	1.0892	10	0.87932	D	0	-19.01	19.5002	0.95091	0.0:1.0:0.0:0.0	.	564;564;564	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	N	564	ENSP00000352135:D564N;ENSP00000351172:D564N;ENSP00000265723:D564N;ENSP00000392983:D564N;ENSP00000437465:D564N	ENSP00000265723:D564N	D	-	1	0	ABCB4	86906960	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.814000	0.86154	2.594000	0.87642	0.655000	0.94253	GAC		0.527	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		61	38	0	0	0	1	0	61	38				
NCKIPSD	51517	broad.mit.edu	37	3	48717251	48717251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48717251C>T	ENST00000294129.2	-	7	1452	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.V445M|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.V438M	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	445	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAATAGGCCACCAAGGCCAGG	0.522																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1333-1335)Gtg>Atg		NCK interacting protein with SH3 domain							153.0	134.0	141.0					3																	48717251		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717251C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1333G>A	3.37:g.48717251C>T	ENSP00000294129:p.Val445Met					NCKIPSD_ENST00000341520.4_Missense_Mutation_p.V445M|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.V438M	p.V445M	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	7	1452	-			445			Leu-rich.		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1333G>A	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741008|4.741008	0.89573|0.89573	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000415281|ENST00000341520;ENST00000416649;ENST00000294129	.|T;T;T	.|0.66815	.|0.19;-0.23;-0.23	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.194831	.|0.33023	.|U	.|0.005362	T|T	0.79604|0.79604	0.4474|0.4474	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.991;0.995	.|P;P	.|0.59703	.|0.801;0.862	T|T	0.82100|0.82100	-0.0624|-0.0624	5|10	.|0.72032	.|D	.|0.01	.|.	18.7356|18.7356	0.91753|0.91753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|445;438	.|Q9NZQ3;Q9NZQ3-3	.|SPN90_HUMAN;.	D|M	180|445;438;445	.|ENSP00000342621:V445M;ENSP00000389059:V438M;ENSP00000294129:V445M	.|ENSP00000294129:V445M	G|V	-|-	2|1	0|0	NCKIPSD|NCKIPSD	48692255|48692255	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.782000|5.782000	0.68973|0.68973	2.424000|2.424000	0.82194|0.82194	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.522	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		5	73	0	0	0	1	0	5	73				
NEDD4	4734	broad.mit.edu	37	15	56142924	56142924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56142924C>T	ENST00000508342.1	-	10	2719	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N	NEDD4_ENST00000338963.2_Missense_Mutation_p.S735N|NEDD4_ENST00000435532.3_Missense_Mutation_p.S388N|NEDD4_ENST00000506154.1_Missense_Mutation_p.S791N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	807	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTCAGCTGACTGGTCTCCAC	0.443																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2419-2421)aGt>aAt		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							55.0	54.0	54.0					15																	56142924		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142924C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2420G>A	15.37:g.56142924C>T	ENSP00000424827:p.Ser807Asn					NEDD4_ENST00000435532.3_Missense_Mutation_p.S388N|NEDD4_ENST00000506154.1_Missense_Mutation_p.S791N|NEDD4_ENST00000338963.2_Missense_Mutation_p.S735N	p.S807N			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2719	-			807			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2420G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.71|12.71	2.020625|2.020625	0.35606|0.35606	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.20200|.	2.09;2.16;2.09;2.09|.	5.04|5.04	4.07|4.07	0.47477|0.47477	.|.	11.961500|.	0.00357|.	N|.	0.000021|.	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.08118|0.08118	0|0	0.23841|0.23841	N|N	0.996694|0.996694	B;B;P;P|.	0.43826|.	0.144;0.288;0.818;0.573|.	B;B;B;B|.	0.36922|.	0.12;0.085;0.222;0.236|.	T|T	0.12528|0.12528	-1.0544|-1.0544	10|5	0.52906|.	T|.	0.07|.	.|.	12.586|12.586	0.56419|0.56419	0.2762:0.7238:0.0:0.0|0.2762:0.7238:0.0:0.0	.|.	791;388;807;735|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	N|I	807;388;735;791|398	ENSP00000424827:S807N;ENSP00000410613:S388N;ENSP00000345530:S735N;ENSP00000422705:S791N|.	ENSP00000345530:S735N|.	S|V	-|-	2|1	0|0	NEDD4|NEDD4	53930216|53930216	0.102000|0.102000	0.21896|0.21896	0.992000|0.992000	0.48379|0.48379	0.930000|0.930000	0.56654|0.56654	0.187000|0.187000	0.16998|0.16998	2.493000|2.493000	0.84123|0.84123	0.455000|0.455000	0.32223|0.32223	AGT|GTC		0.443	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		3	44	0	0	0	1	0	3	44				
GSTCD	79807	broad.mit.edu	37	4	106766643	106766643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106766643C>T	ENST00000515279.1	+	12	2031	c.1811C>T	c.(1810-1812)gCa>gTa	p.A604V	GSTCD_ENST00000360505.5_Missense_Mutation_p.A604V|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394730.3_Missense_Mutation_p.A517V|GSTCD_ENST00000394728.3_Missense_Mutation_p.A604V			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	604						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GCAAGAGCTGCAGAAGAATGT	0.448																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(1810-1812)gCa>gTa		glutathione S-transferase, C-terminal domain containing							107.0	106.0	107.0					4																	106766643		1962	4165	6127	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106766643C>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1811C>T	4.37:g.106766643C>T	ENSP00000422354:p.Ala604Val					GSTCD_ENST00000394730.3_Missense_Mutation_p.A517V|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000360505.5_Missense_Mutation_p.A604V|GSTCD_ENST00000394728.3_Missense_Mutation_p.A604V	p.A604V			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	12	2031	+		Hepatocellular(203;0.217)	604					A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.1811C>T	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218846	0.95104	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.91635	0.999;0.906	T	0.81176	-0.1052	9	0.66056	D	0.02	-1.3713	19.0547	0.93058	0.0:1.0:0.0:0.0	.	604;227	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	V	517;604;604;604	.	ENSP00000353695:A604V	A	+	2	0	GSTCD	106986092	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.147000	0.77382	2.480000	0.83734	0.650000	0.86243	GCA		0.448	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		13	42	0	0	0	1	0	13	42				
DNTTIP1	116092	broad.mit.edu	37	20	44439805	44439805	+	Missense_Mutation	SNP	C	C	T	rs201018163		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44439805C>T	ENST00000372622.3	+	13	1029	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	UBE2C_ENST00000335046.3_5'Flank|UBE2C_ENST00000356455.4_5'Flank|UBE2C_ENST00000352551.5_5'Flank|UBE2C_ENST00000372568.4_5'Flank|UBE2C_ENST00000405520.1_5'Flank|UBE2C_ENST00000243893.6_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	321						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GAATGAGCATCGTGCTGTTGA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20848	0.0		0.0	False		,,,				2504	0.0					ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(961-963)Cgt>Tgt		deoxynucleotidyltransferase, terminal, interacting protein 1							122.0	115.0	117.0					20																	44439805		2203	4300	6503	SO:0001583	missense	116092					nucleus		g.chr20:44439805C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.961C>T	20.37:g.44439805C>T	ENSP00000361705:p.Arg321Cys						p.R321C	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			13	1029	+		Myeloproliferative disorder(115;0.0122)	321					B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.961C>T	CCDS13369.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	24.3|24.3	4.511692|4.511692	0.85389|0.85389	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622|ENST00000456939	T|.	0.49139|.	0.79|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.313067|.	0.28257|.	N|.	0.016020|.	T|T	0.61615|0.61615	0.2361|0.2361	L|L	0.43152|0.43152	1.355|1.355	0.46749|0.46749	D|D	0.99918|0.99918	D|.	0.64830|.	0.994|.	P|.	0.47102|.	0.537|.	T|T	0.56226|0.56226	-0.8014|-0.8014	10|5	0.87932|.	D|.	0|.	-2.2713|-2.2713	15.5017|15.5017	0.75703|0.75703	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	321|.	Q9H147|.	TDIF1_HUMAN|.	C|L	321|271	ENSP00000361705:R321C|.	ENSP00000361705:R321C|.	R|S	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43873212|43873212	0.010000|0.010000	0.17322|0.17322	0.900000|0.900000	0.35374|0.35374	0.955000|0.955000	0.61496|0.61496	2.102000|2.102000	0.41796|0.41796	2.731000|2.731000	0.93534|0.93534	0.555000|0.555000	0.69702|0.69702	CGT|TCG		0.557	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		43	54	0	0	0	1	0	43	54				
KHSRP	8570	broad.mit.edu	37	19	6427135	6427135	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6427135G>A	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.R307C	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						ATCCTGGTGCGCACCAGAGTC	0.632																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(919-921)Cgc>Tgc		solute carrier family 25, member 41							18.0	22.0	21.0					19																	6427135		2118	4234	6352	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6427135G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427135G>A	Exception_encountered						p.R307C	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			6	987	-			307					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.919C>T	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583285	0.65992	.	.	ENSG00000181240	ENST00000321510	T	0.80994	-1.44	4.22	2.02	0.26589	Mitochondrial carrier domain (2);	.	.	.	.	D	0.91136	0.7209	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88337	0.2972	9	0.87932	D	0	-12.7717	5.7368	0.18071	0.0942:0.0:0.563:0.3428	.	307	Q8N5S1	S2541_HUMAN	C	307	ENSP00000322649:R307C	ENSP00000322649:R307C	R	-	1	0	SLC25A41	6378135	1.000000	0.71417	0.779000	0.31741	0.992000	0.81027	3.144000	0.50616	0.391000	0.25143	0.462000	0.41574	CGC		0.632	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			3	7	0	0	0	1	0	3	7				
ITGB7	3695	broad.mit.edu	37	12	53587619	53587619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53587619C>T	ENST00000267082.5	-	11	1606	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	ITGB7_ENST00000338737.4_Missense_Mutation_p.A459T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A459T|ITGB7_ENST00000550743.2_Missense_Mutation_p.A459T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	459					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCAAGGGCCCGGAGCCTC	0.582																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1375-1377)Gcc>Acc		integrin, beta 7							60.0	62.0	61.0					12																	53587619		2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53587619C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1375G>A	12.37:g.53587619C>T	ENSP00000267082:p.Ala459Thr					ITGB7_ENST00000338737.4_Missense_Mutation_p.A459T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A459T|ITGB7_ENST00000550743.2_Missense_Mutation_p.A459T	p.A459T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			11	1606	-			459					Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.1375G>A	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799214	0.70567	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	T;T;T	0.64618	-0.11;-0.11;-0.11	4.67	4.67	0.58626	Integrin beta subunit, N-terminal (2);	0.000000	0.41001	D	0.000973	T	0.65196	0.2668	L	0.41236	1.265	0.36446	D	0.865819	D	0.57257	0.979	P	0.52343	0.696	T	0.73662	-0.3912	10	0.62326	D	0.03	.	16.8802	0.86061	0.0:1.0:0.0:0.0	.	459	P26010	ITB7_HUMAN	T	459	ENSP00000408741:A459T;ENSP00000267082:A459T;ENSP00000345501:A459T	ENSP00000267082:A459T	A	-	1	0	ITGB7	51873886	0.754000	0.28360	1.000000	0.80357	0.994000	0.84299	2.035000	0.41155	2.586000	0.87340	0.655000	0.94253	GCC		0.582	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			29	42	0	0	0	1	0	29	42				
SLIT3	6586	broad.mit.edu	37	5	168201248	168201248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:168201248G>A	ENST00000519560.1	-	13	1706	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLIT3_ENST00000332966.8_Silent_p.I429I|SLIT3_ENST00000404867.3_Silent_p.I429I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	429					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGTGTCTGGATGGACTGCA	0.557																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1285-1287)atC>atT		slit homolog 3 (Drosophila)							159.0	155.0	156.0					5																	168201248		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168201248G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1287C>T	5.37:g.168201248G>A						SLIT3_ENST00000332966.8_Silent_p.I429I|SLIT3_ENST00000404867.3_Silent_p.I429I	p.I429I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1706	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	429					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1287C>T	CCDS4369.1																																																																																				0.557	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		46	111	0	0	0	1	0	46	111				
HERC6	55008	broad.mit.edu	37	4	89319298	89319298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89319298C>T	ENST00000264346.7	+	8	1088	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	HERC6_ENST00000380265.5_Silent_p.F343F	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	343			F -> L (in dbSNP:rs17014118).		hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTTAGACTTCGTGGATGTTC	0.294																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1027-1029)ttC>ttT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							72.0	70.0	70.0					4																	89319298		1816	4069	5885	SO:0001819	synonymous_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89319298C>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1029C>T	4.37:g.89319298C>T						HERC6_ENST00000264346.7_Silent_p.F343F	p.F343F	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	8	1212	+		Hepatocellular(203;0.114)	343		F -> L (in dbSNP:rs17014118).			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	c.1029C>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	4.245	0.044359	0.08196	.	.	ENSG00000138642	ENST00000438983	.	.	.	4.57	0.853	0.19001	.	.	.	.	.	T	0.37839	0.1018	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36841	-0.9731	5	0.87932	D	0	.	4.3963	0.11365	0.0:0.207:0.3877:0.4053	.	.	.	.	C	298	.	ENSP00000415718:R298C	R	+	1	0	HERC6	89538321	0.006000	0.16342	0.491000	0.27477	0.700000	0.40528	0.057000	0.14279	0.003000	0.14656	0.297000	0.19635	CGT		0.294	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			5	11	0	0	0	1	0	5	11				
SLC10A2	6555	broad.mit.edu	37	13	103701702	103701702	+	Missense_Mutation	SNP	C	C	T	rs201461541		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103701702C>T	ENST00000245312.3	-	5	1452	c.856G>A	c.(856-858)Gta>Ata	p.V286I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	286					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AAGGTGAATACGACATTGAGC	0.473																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(856-858)Gta>Ata		solute carrier family 10 (sodium/bile acid cotransporter), member 2							194.0	157.0	170.0					13																	103701702		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103701702C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.856G>A	13.37:g.103701702C>T	ENSP00000245312:p.Val286Ile						p.V286I	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			5	1452	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		286					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.856G>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	1.630	-0.519259	0.04171	.	.	ENSG00000125255	ENST00000245312	T	0.07800	3.16	5.69	-1.18	0.09617	.	0.312362	0.41605	N	0.000842	T	0.05044	0.0135	L	0.28608	0.87	0.20926	N	0.99983	B	0.02656	0.0	B	0.04013	0.001	T	0.45789	-0.9237	10	0.06365	T	0.9	-21.5684	12.5858	0.56416	0.0:0.1655:0.0:0.8345	.	286	Q12908	NTCP2_HUMAN	I	286	ENSP00000245312:V286I	ENSP00000245312:V286I	V	-	1	0	SLC10A2	102499703	0.950000	0.32346	0.001000	0.08648	0.002000	0.02628	1.710000	0.37920	-0.369000	0.08028	-2.936000	0.00087	GTA		0.473	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			4	68	0	0	0	1	0	4	68				
KCNQ4	9132	broad.mit.edu	37	1	41288056	41288056	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41288056G>T	ENST00000347132.5	+	8	1194	c.1112G>T	c.(1111-1113)aGt>aTt	p.S371I	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.S371I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	371					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TACTATGACAGTATCCTCCCA	0.627																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(1111-1113)aGt>aTt		potassium voltage-gated channel, KQT-like subfamily, member 4							71.0	62.0	65.0					1																	41288056		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41288056G>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1112G>T	1.37:g.41288056G>T	ENSP00000262916:p.Ser371Ile					KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.S371I	p.S371I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		8	1194	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	371					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1112G>T	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.95|18.95	3.732421|3.732421	0.69189|0.69189	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.98926	.|-5.24;-5.13	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	.|0.095218	.|0.64402	.|D	.|0.000001	D|D	0.98220|0.98220	0.9411|0.9411	L|L	0.31926|0.31926	0.97|0.97	0.49687|0.49687	D|D	0.999814|0.999814	.|B;D	.|0.76494	.|0.336;0.999	.|B;D	.|0.80764	.|0.07;0.994	D|D	0.98874|0.98874	1.0767|1.0767	5|10	.|0.62326	.|D	.|0.03	-13.6886|-13.6886	14.3725|14.3725	0.66849|0.66849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|371;371	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	H|I	266|371	.|ENSP00000262916:S371I;ENSP00000423756:S371I	.|ENSP00000262916:S371I	Q|S	+|+	3|2	2|0	KCNQ4|KCNQ4	41060643|41060643	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	7.755000|7.755000	0.85180|0.85180	2.261000|2.261000	0.74972|0.74972	0.561000|0.561000	0.74099|0.74099	CAG|AGT		0.627	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		9	23	1	0	2.52707e-12	1	3.17576e-12	9	23				
SPEF2	79925	broad.mit.edu	37	5	35667259	35667259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35667259C>A	ENST00000356031.3	+	9	1407	c.1253C>A	c.(1252-1254)gCt>gAt	p.A418D	SPEF2_ENST00000440995.2_Missense_Mutation_p.A418D|SPEF2_ENST00000509059.1_Missense_Mutation_p.A418D|SPEF2_ENST00000282469.6_Missense_Mutation_p.A418D	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	418					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGAAAGAGCTCAAGCTCGT	0.348																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1252-1254)gCt>gAt		sperm flagellar 2							94.0	88.0	90.0					5																	35667259		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35667259C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1253C>A	5.37:g.35667259C>A	ENSP00000348314:p.Ala418Asp					SPEF2_ENST00000509059.1_Missense_Mutation_p.A418D|SPEF2_ENST00000356031.3_Missense_Mutation_p.A418D|SPEF2_ENST00000282469.6_Missense_Mutation_p.A418D	p.A418D			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1253	+	all_lung(31;7.56e-05)		418					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1253C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388466	0.82902	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.17213	2.29;3.35;2.29;3.35	5.88	5.01	0.66863	.	0.168960	0.50627	D	0.000101	T	0.38506	0.1043	M	0.77616	2.38	0.80722	D	1	D;D;P	0.62365	0.961;0.991;0.943	P;P;P	0.57620	0.621;0.824;0.642	T	0.37079	-0.9721	10	0.72032	D	0.01	.	14.9621	0.71164	0.0:0.9308:0.0:0.0692	.	418;418;418	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	D	418	ENSP00000282469:A418D;ENSP00000348314:A418D;ENSP00000421593:A418D;ENSP00000412125:A418D	ENSP00000282469:A418D	A	+	2	0	SPEF2	35703016	0.940000	0.31905	0.995000	0.50966	0.978000	0.69477	1.942000	0.40243	1.503000	0.48686	0.555000	0.69702	GCT		0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		19	25	1	0	5.03518e-11	1	6.25324e-11	19	25				
HABP2	3026	broad.mit.edu	37	10	115341888	115341888	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115341888C>T	ENST00000351270.3	+	9	1188	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Silent_p.T338T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	364	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.T364T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CCCACTGCACCGAGTAGGTGC	0.637																																						ENST00000351270.3																			1	Substitution - coding silent(1)	p.T364T(1)	lung(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1090-1092)acC>acT		hyaluronan binding protein 2							16.0	18.0	17.0					10																	115341888		2201	4298	6499	SO:0001819	synonymous_variant	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115341888C>T		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1092C>T	10.37:g.115341888C>T						HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Silent_p.T338T	p.T364T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	9	1188	+		Colorectal(252;0.0233)|Breast(234;0.0672)	364			Peptidase S1.		A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	ENST00000351270.3	37	c.1092C>T	CCDS7577.1																																																																																				0.637	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		5	17	0	0	0	1	0	5	17				
SYPL2	284612	broad.mit.edu	37	1	110019486	110019486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110019486G>A	ENST00000369872.3	+	4	559	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	SYPL2_ENST00000401021.3_Missense_Mutation_p.A115T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	115	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCTGCACCCGCCGAGTTCTT	0.537																																						ENST00000369872.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16						c.(343-345)Gcc>Acc		synaptophysin-like 2							91.0	95.0	94.0					1																	110019486		1997	4173	6170	SO:0001583	missense	284612					integral to membrane|synaptic vesicle	transporter activity	g.chr1:110019486G>A	AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.343G>A	1.37:g.110019486G>A	ENSP00000358888:p.Ala115Thr					SYPL2_ENST00000401021.3_Missense_Mutation_p.A115T	p.A115T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	4	559	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	115			MARVEL.		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	37	c.343G>A	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005176	0.74932	.	.	ENSG00000143028	ENST00000401021;ENST00000369872	T;T	0.25912	1.77;1.77	5.46	4.55	0.56014	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.75615	2.305	0.53688	D	0.999979	D;P;P;P	0.89917	1.0;0.892;0.881;0.855	D;B;B;B	0.91635	0.999;0.273;0.241;0.155	T	0.44003	-0.9356	10	0.66056	D	0.02	.	13.1413	0.59436	0.0789:0.0:0.9211:0.0	.	115;23;115;115	B4DYR7;Q14DL7;Q5VXT5;Q5VXT5-2	.;.;SYPL2_HUMAN;.	T	115	ENSP00000383805:A115T;ENSP00000358888:A115T	ENSP00000358888:A115T	A	+	1	0	SYPL2	109821009	1.000000	0.71417	0.086000	0.20670	0.307000	0.27823	7.917000	0.87498	1.306000	0.44926	0.455000	0.32223	GCC		0.537	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		9	39	0	0	0	1	0	9	39				
RNF43	54894	broad.mit.edu	37	17	56438188	56438188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56438188C>A	ENST00000584437.1	-	6	2760	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	RNF43_ENST00000577716.1_Missense_Mutation_p.A269S|RNF43_ENST00000583753.1_Missense_Mutation_p.A228S|RNF43_ENST00000577625.1_Missense_Mutation_p.A142S|RNF43_ENST00000500597.2_Missense_Mutation_p.A228S|RNF43_ENST00000407977.2_Missense_Mutation_p.A269S|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.A142S			Q68DV7	RNF43_HUMAN	ring finger protein 43	269					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACACAGGGGCTGAGCTGCAG	0.632																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(805-807)Gcc>Tcc		ring finger protein 43							50.0	51.0	51.0					17																	56438188		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56438188C>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.805G>T	17.37:g.56438188C>A	ENSP00000463069:p.Ala269Ser					RNF43_ENST00000583753.1_Missense_Mutation_p.A228S|RNF43_ENST00000407977.2_Missense_Mutation_p.A269S|RNF43_ENST00000577625.1_Missense_Mutation_p.A142S|RNF43_ENST00000581868.1_Missense_Mutation_p.A142S|RNF43_ENST00000500597.2_Missense_Mutation_p.A228S|RNF43_ENST00000577716.1_Missense_Mutation_p.A269S|BZRAP1-AS1_ENST00000583841.1_RNA	p.A269S			Q68DV7	RNF43_HUMAN			6	2760	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		269					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.805G>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467357	0.43839	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08807	3.21;3.05	4.64	2.53	0.30540	Zinc finger, RING/FYVE/PHD-type (1);	0.278041	0.35805	N	0.002964	T	0.06142	0.0159	L	0.32530	0.975	0.27249	N	0.958951	B;B;B	0.25772	0.047;0.134;0.022	B;B;B	0.23275	0.02;0.045;0.009	T	0.35919	-0.9769	10	0.15066	T	0.55	-21.5607	10.6642	0.45719	0.0:0.8348:0.0:0.1652	.	228;269;269	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	S	269;228	ENSP00000385328:A269S;ENSP00000441969:A228S	ENSP00000385328:A269S	A	-	1	0	RNF43	53793187	0.999000	0.42202	0.990000	0.47175	0.928000	0.56348	3.730000	0.55006	0.913000	0.36797	0.313000	0.20887	GCC		0.632	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		14	17	1	0	1.49906e-05	1	1.69169e-05	14	17				
C4orf22	255119	broad.mit.edu	37	4	81866076	81866076	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81866076C>A	ENST00000358105.3	+	5	638	c.589C>A	c.(589-591)Ctt>Att	p.L197I	C4orf22_ENST00000508675.1_Missense_Mutation_p.L214I	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333																																						ENST00000358105.3																			1	Substitution - Missense(1)	p.L197I(1)	large_intestine(1)	NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(589-591)Ctt>Att		chromosome 4 open reading frame 22							71.0	75.0	73.0					4																	81866076		2203	4297	6500	SO:0001583	missense	255119							g.chr4:81866076C>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.589C>A	4.37:g.81866076C>A	ENSP00000350818:p.Leu197Ile					C4orf22_ENST00000508675.1_Missense_Mutation_p.L214I	p.L197I	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			5	638	+			197					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.589C>A	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	C	1.754	-0.488569	0.04352	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.20598	2.06;2.06	5.57	3.66	0.41972	.	0.083419	0.45361	D	0.000370	T	0.08268	0.0206	N	0.05383	-0.06	0.34134	D	0.665559	B;B	0.18013	0.025;0.001	B;B	0.24006	0.05;0.008	T	0.23332	-1.0191	10	0.02654	T	1	.	8.0694	0.30680	0.208:0.704:0.0:0.088	.	214;197	E7EQ13;Q6V702	.;CD022_HUMAN	I	197;214	ENSP00000350818:L197I;ENSP00000425786:L214I	ENSP00000350818:L197I	L	+	1	0	C4orf22	82085100	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.775000	0.26689	2.618000	0.88619	0.655000	0.94253	CTT		0.333	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		16	56	1	0	4.7546e-09	1	5.74312e-09	16	56				
AKAP13	11214	broad.mit.edu	37	15	86123477	86123477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86123477G>T	ENST00000394518.2	+	7	2273	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q726H|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	726					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGATACCCAGGAACGTGCGG	0.478																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(2176-2178)caG>caT		A kinase (PRKA) anchor protein 13							66.0	64.0	64.0					15																	86123477		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86123477G>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2178G>T	15.37:g.86123477G>T	ENSP00000378026:p.Gln726His					AKAP13_ENST00000361243.2_Missense_Mutation_p.Q726H	p.Q726H	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	2273	+			726					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.2178G>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218680	0.39201	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.14266	2.55;2.52	5.88	3.04	0.35103	.	.	.	.	.	T	0.14743	0.0356	L	0.32530	0.975	0.09310	N	0.999995	P;P	0.39883	0.567;0.693	B;P	0.45377	0.286;0.478	T	0.13469	-1.0508	9	0.72032	D	0.01	.	8.1782	0.31294	0.2385:0.0:0.7615:0.0	.	726;726	Q12802;Q12802-2	AKP13_HUMAN;.	H	726;726;725;725	ENSP00000354718:Q726H;ENSP00000378026:Q726H	ENSP00000354718:Q726H	Q	+	3	2	AKAP13	83924481	0.018000	0.18449	0.001000	0.08648	0.015000	0.08874	0.885000	0.28227	0.410000	0.25675	0.655000	0.94253	CAG		0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		31	34	1	0	7.26314e-15	1	9.28782e-15	31	34				
TRBC2	28638	broad.mit.edu	37	7	142498959	142498959	+	RNA	SNP	G	G	A	rs371694521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142498959G>A	ENST00000466254.1	+	0	235							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											CTGAGCAGCCGCCTGAGGGTC	0.622																																						ENST00000466254.1																			0															G		1,4113		0,1,2056	72.0	86.0	82.0			4.9	1.0	7		82	3,8361		0,3,4179	no	intergenic				0,4,6235	AA,AG,GG		0.0359,0.0243,0.0321			142498959	4,12474	2057	4182	6239			0							g.chr7:142498959G>A	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142498959G>A														0	235	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.622	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		7	89	0	0	0	1	0	7	89				
FAM19A3	284467	broad.mit.edu	37	1	113266618	113266618	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113266618G>A	ENST00000361886.3	+	4	324				FAM19A3_ENST00000369630.3_Missense_Mutation_p.R106H	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3							extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCACTCCGCCTCCTGCTC	0.632																																						ENST00000369630.3																			0				lung(4)|ovary(1)	5						c.(316-318)cGc>cAc		family with sequence similarity 19 (chemokine (C-C motif)-like), member A3							93.0	82.0	86.0					1																	113266618		2203	4300	6503	SO:0001627	intron_variant	284467					extracellular region		g.chr1:113266618G>A	AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.266-17G>A	1.37:g.113266618G>A						FAM19A3_ENST00000361886.3_Intron	p.R106H			Q7Z5A8	F19A3_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	534	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	0					B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	ENST00000361886.3	37	c.317G>A	CCDS856.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.209054	0.22205	.	.	ENSG00000184599	ENST00000369630	.	.	.	5.8	1.57	0.23409	.	2.856260	0.00786	N	0.001318	T	0.12561	0.0305	.	.	.	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.10042	-1.0647	8	0.34782	T	0.22	-18.6876	6.6635	0.23027	0.2165:0.1271:0.6564:0.0	.	106	Q7Z5A8-2	.	H	106	.	ENSP00000358644:R106H	R	+	2	0	FAM19A3	113068141	0.000000	0.05858	0.803000	0.32268	0.183000	0.23260	-0.347000	0.07750	0.812000	0.34326	0.655000	0.94253	CGC		0.632	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033255.1	NM_182759		16	27	0	0	0	1	0	16	27				
UBN2	254048	broad.mit.edu	37	7	138969078	138969078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969078C>T	ENST00000473989.3	+	15	3427	c.3427C>T	c.(3427-3429)Ctt>Ttt	p.L1143F	UBN2_ENST00000288561.8_Missense_Mutation_p.L1060F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1143	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TACAAAAAATCTTCAGGCCCC	0.473																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3178-3180)Ctt>Ttt		ubinuclein 2							66.0	66.0	66.0					7																	138969078		1918	4133	6051	SO:0001583	missense	254048							g.chr7:138969078C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3427C>T	7.37:g.138969078C>T	ENSP00000418648:p.Leu1143Phe					UBN2_ENST00000473989.2_Missense_Mutation_p.L1143F	p.L1060F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3427	+			1143			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3178C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813865	0.50527	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.34472	1.36;1.39	5.51	4.61	0.57282	.	0.280235	0.31221	N	0.008023	T	0.39009	0.1062	N	0.22421	0.69	0.31173	N	0.703004	D	0.71674	0.998	D	0.71656	0.974	T	0.21930	-1.0231	10	0.09590	T	0.72	-4.704	11.433	0.50052	0.1418:0.7217:0.1365:0.0	.	1143	Q6ZU65	UBN2_HUMAN	F	1143;1060	ENSP00000418648:L1143F;ENSP00000288561:L1060F	ENSP00000288561:L1060F	L	+	1	0	UBN2	138619618	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.453000	0.35167	1.424000	0.47217	0.557000	0.71058	CTT		0.473	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		8	41	0	0	0	1	0	8	41				
KIAA1279	26128	broad.mit.edu	37	10	70775831	70775831	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775831C>A	ENST00000361983.4	+	7	1627	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	509					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AATAAATAATCTTAATAAGTC	0.393																																						ENST00000361983.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						c.(1525-1527)Ctt>Att		KIAA1279							48.0	49.0	49.0					10																	70775831		2203	4300	6503	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70775831C>A	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1525C>A	10.37:g.70775831C>A	ENSP00000354848:p.Leu509Ile						p.L509I	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN			7	1627	+			509					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.1525C>A	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818923	0.71028	.	.	ENSG00000198954	ENST00000361983	T	0.55588	0.51	5.45	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76669	-0.2874	10	0.62326	D	0.03	1.0E-4	14.8985	0.70661	0.0:0.9302:0.0:0.0698	.	509	Q96EK5	KBP_HUMAN	I	509	ENSP00000354848:L509I	ENSP00000354848:L509I	L	+	1	0	KIAA1279	70445837	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	3.825000	0.55730	1.414000	0.47017	0.655000	0.94253	CTT		0.393	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		7	50	1	0	0.00198382	1	0.00210581	7	50				
KIAA1377	57562	broad.mit.edu	37	11	101834143	101834143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834143G>A	ENST00000263468.8	+	6	2647	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	KIAA1377_ENST00000537689.1_Missense_Mutation_p.A594T	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	793										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTTACACAAGCTCAGGGAAA	0.383																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(2377-2379)Gct>Act		KIAA1377							71.0	74.0	73.0					11																	101834143		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101834143G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2377G>A	11.37:g.101834143G>A	ENSP00000263468:p.Ala793Thr					KIAA1377_ENST00000537689.1_Missense_Mutation_p.A594T	p.A793T	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2647	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	793					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.2377G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.686026	0.00738	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07800	3.16;3.16	5.63	-0.954	0.10359	.	0.586399	0.17357	N	0.177192	T	0.02767	0.0083	N	0.13327	0.33	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.42464	-0.9450	10	0.02654	T	1	-1.0867	1.9632	0.03390	0.3171:0.1006:0.3863:0.196	.	793	Q9P2H0	K1377_HUMAN	T	793;594	ENSP00000263468:A793T;ENSP00000443184:A594T	ENSP00000263468:A793T	A	+	1	0	KIAA1377	101339353	0.089000	0.21612	0.298000	0.25002	0.002000	0.02628	-0.263000	0.08670	-0.302000	0.08869	-0.818000	0.03119	GCT		0.383	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		6	80	0	0	0	1	0	6	80				
LMAN1L	79748	broad.mit.edu	37	15	75108826	75108826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75108826C>T	ENST00000309664.5	+	3	528	c.389C>T	c.(388-390)tCg>tTg	p.S130L	LMAN1L_ENST00000379709.3_Missense_Mutation_p.S130L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	130	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S130L(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGGCTTCGTGGGACGGC	0.667																																						ENST00000309664.5																			1	Substitution - Missense(1)	p.S130L(1)	NS(1)	NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(388-390)tCg>tTg		lectin, mannose-binding, 1 like							77.0	78.0	78.0					15																	75108826		2197	4296	6493	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75108826C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.389C>T	15.37:g.75108826C>T	ENSP00000310431:p.Ser130Leu					LMAN1L_ENST00000379709.3_Missense_Mutation_p.S130L	p.S130L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			3	528	+			130			L-type lectin-like.		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.389C>T	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	8.834	0.940649	0.18281	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.62941	-0.01;-0.01	5.29	0.612	0.17591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.242280	0.05643	N	0.583752	T	0.39963	0.1098	N	0.20574	0.59	0.09310	N	1	B;B;B	0.21753	0.048;0.029;0.06	B;B;B	0.18871	0.014;0.017;0.023	T	0.17623	-1.0363	10	0.10111	T	0.7	.	2.755	0.05290	0.203:0.4249:0.0:0.372	.	130;58;130	Q9HAT1-3;B4DU67;Q9HAT1	.;.;LMA1L_HUMAN	L	130	ENSP00000310431:S130L;ENSP00000369031:S130L	ENSP00000310431:S130L	S	+	2	0	LMAN1L	72895879	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.376000	0.20535	0.224000	0.20940	0.484000	0.47621	TCG		0.667	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			28	59	0	0	0	1	0	28	59				
PCNT	5116	broad.mit.edu	37	21	47819616	47819616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47819616G>A	ENST00000359568.5	+	25	4804	c.4697G>A	c.(4696-4698)cGt>cAt	p.R1566H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1566					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAATTAAACGTCTGGAGGAG	0.398																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(4696-4698)cGt>cAt		pericentrin							105.0	110.0	108.0					21																	47819616		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47819616G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4697G>A	21.37:g.47819616G>A	ENSP00000352572:p.Arg1566His					PCNT_ENST00000480896.1_3'UTR	p.R1566H	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			25	4804	+	Breast(49;0.112)		1566					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4697G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257322	0.59321	.	.	ENSG00000160299	ENST00000359568	T	0.61158	0.13	5.74	-1.22	0.09494	.	0.551938	0.13804	N	0.361627	T	0.39911	0.1096	L	0.37561	1.115	0.09310	N	1	B;B	0.22276	0.067;0.04	B;B	0.14578	0.011;0.005	T	0.31308	-0.9948	10	0.62326	D	0.03	.	4.7911	0.13248	0.5145:0.0:0.3405:0.145	.	1448;1566	O95613-2;O95613	.;PCNT_HUMAN	H	1566	ENSP00000352572:R1566H	ENSP00000352572:R1566H	R	+	2	0	PCNT	46644044	0.001000	0.12720	0.003000	0.11579	0.918000	0.54935	0.259000	0.18405	0.125000	0.18397	0.651000	0.88453	CGT		0.398	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		39	54	0	0	0	1	0	39	54				
ALDH1A3	220	broad.mit.edu	37	15	101434238	101434238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101434238C>T	ENST00000329841.5	+	6	1149	c.617C>T	c.(616-618)gCg>gTg	p.A206V	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	206					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CTGAAGCCTGCGGAGCAGACA	0.547																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(616-618)gCg>gTg		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						138.0	132.0	134.0					15																	101434238		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101434238C>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.617C>T	15.37:g.101434238C>T	ENSP00000332256:p.Ala206Val					ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	p.A206V	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		6	1149	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		206					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.617C>T	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514184	0.85389	.	.	ENSG00000184254	ENST00000329841	T	0.19532	2.14	5.69	4.77	0.60923	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81959	-0.0694	10	0.87932	D	0	.	16.0836	0.81023	0.135:0.865:0.0:0.0	.	206	P47895	AL1A3_HUMAN	V	206	ENSP00000332256:A206V	ENSP00000332256:A206V	A	+	2	0	ALDH1A3	99251761	1.000000	0.71417	0.197000	0.23402	0.602000	0.36980	7.376000	0.79658	1.373000	0.46208	0.655000	0.94253	GCG		0.547	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			7	133	0	0	0	1	0	7	133				
MAP2K2	5605	broad.mit.edu	37	19	4117563	4117563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4117563G>A	ENST00000262948.5	-	2	410	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	53					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GCTTCCAGCCGCTTCTTCTGC	0.592																																						ENST00000262948.5																			0											c.(157-159)Cgg>Tgg		mitogen-activated protein kinase kinase 2							85.0	85.0	85.0					19																	4117563		2203	4300	6503	SO:0001583	missense	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4117563G>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.157C>T	19.37:g.4117563G>A	ENSP00000262948:p.Arg53Trp					MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	p.R53W	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	2	410	-		Hepatocellular(1079;0.137)	53						Missense_Mutation	SNP	ENST00000262948.5	37	c.157C>T	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	g	16.28	3.079010	0.55753	.	.	ENSG00000126934	ENST00000262948	D	0.93426	-3.22	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.79123	2.44	0.80722	D	1	B	0.26318	0.146	B	0.22601	0.04	D	0.92507	0.6013	10	0.87932	D	0	-16.5481	15.1706	0.72869	0.0:0.0:1.0:0.0	.	53	P36507	MP2K2_HUMAN	W	53	ENSP00000262948:R53W	ENSP00000262948:R53W	R	-	1	2	MAP2K2	4068563	1.000000	0.71417	0.992000	0.48379	0.538000	0.34931	6.241000	0.72369	2.139000	0.66308	0.555000	0.69702	CGG		0.592	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			30	43	0	0	0	1	0	30	43				
ATP4A	495	broad.mit.edu	37	19	36044680	36044680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36044680G>T	ENST00000262623.3	-	17	2561	c.2533C>A	c.(2533-2535)Ctg>Atg	p.L845M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	845					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGTGGACGCAGGTGCATGATG	0.607																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2533-2535)Ctg>Atg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						115.0	78.0	90.0					19																	36044680		2201	4300	6501	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36044680G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2533C>A	19.37:g.36044680G>T	ENSP00000262623:p.Leu845Met						p.L845M	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		17	2561	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		845					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2533C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053789	0.55218	.	.	ENSG00000105675	ENST00000262623	D	0.95853	-3.83	4.13	3.09	0.35607	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.52532	D	0.000067	D	0.95046	0.8396	L	0.34521	1.04	0.36567	D	0.872755	P	0.42620	0.785	P	0.61070	0.883	D	0.95627	0.8686	10	0.87932	D	0	.	9.6583	0.39939	0.1035:0.0:0.8965:0.0	.	845	P20648	ATP4A_HUMAN	M	845	ENSP00000262623:L845M	ENSP00000262623:L845M	L	-	1	2	ATP4A	40736520	0.055000	0.20627	0.999000	0.59377	0.604000	0.37047	2.114000	0.41911	0.956000	0.37904	0.313000	0.20887	CTG		0.607	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	7	1	0	1.23904e-05	1	1.39987e-05	5	7				
KDM5C	8242	broad.mit.edu	37	X	53222210	53222210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53222210G>A	ENST00000375401.3	-	26	5154	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	KDM5C_ENST00000404049.3_Missense_Mutation_p.S1540F|KDM5C_ENST00000375379.3_Missense_Mutation_p.S1538F|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1497F|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1541					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGTCAGAGTGGAGAAAGGGGC	0.652			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000375401.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(4621-4623)tCc>tTc		lysine (K)-specific demethylase 5C							28.0	28.0	28.0					X																	53222210		2203	4299	6502	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53222210G>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4622C>T	X.37:g.53222210G>A	ENSP00000364550:p.Ser1541Phe					KDM5C_ENST00000404049.3_Missense_Mutation_p.S1540F|KDM5C_ENST00000375379.3_Missense_Mutation_p.S1538F|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1497F|KDM5C_ENST00000452825.3_Intron	p.S1541F	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN			26	5154	-			1541					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.4622C>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	12.24	1.878978	0.33162	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85411	-1.84;-1.84;-1.84;-1.98	3.9	3.02	0.34903	.	0.645988	0.13688	U	0.369757	T	0.72350	0.3449	N	0.22421	0.69	0.40941	D	0.984463	B;B	0.29716	0.255;0.104	B;B	0.25405	0.06;0.06	T	0.73254	-0.4041	10	0.87932	D	0	-2.5006	5.7223	0.17995	0.1487:0.0:0.8513:0.0	.	1540;1541	B0QZ44;P41229	.;KDM5C_HUMAN	F	1541;1540;1538;1497	ENSP00000364550:S1541F;ENSP00000385394:S1540F;ENSP00000364528:S1538F;ENSP00000364532:S1497F	ENSP00000364528:S1538F	S	-	2	0	KDM5C	53238935	1.000000	0.71417	0.979000	0.43373	0.757000	0.42996	1.806000	0.38892	1.917000	0.55516	0.407000	0.27541	TCC		0.652	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		14	10	0	0	0	1	0	14	10				
ANO9	338440	broad.mit.edu	37	11	428179	428179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:428179C>T	ENST00000332826.6	-	15	1327	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	415					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTCTCTCGCTCCGAGAAGGTC	0.607																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1243-1245)Gag>Aag		anoctamin 9							159.0	147.0	151.0					11																	428179		2201	4298	6499	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:428179C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1243G>A	11.37:g.428179C>T	ENSP00000332788:p.Glu415Lys						p.E415K	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			15	1327	-			415					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1243G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219383	0.58560	.	.	ENSG00000185101	ENST00000332826	T	0.64803	-0.12	3.78	3.78	0.43462	.	0.153838	0.42294	D	0.000729	T	0.71281	0.3321	L	0.61218	1.895	0.43569	D	0.995892	D;D	0.56287	0.965;0.975	P;P	0.58660	0.625;0.843	T	0.74172	-0.3751	10	0.54805	T	0.06	.	13.2185	0.59873	0.0:0.8262:0.1738:0.0	.	116;415	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	K	415	ENSP00000332788:E415K	ENSP00000332788:E415K	E	-	1	0	ANO9	418179	0.969000	0.33509	0.383000	0.26132	0.056000	0.15407	2.285000	0.43487	2.139000	0.66308	0.306000	0.20318	GAG		0.607	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		14	24	0	0	0	1	0	14	24				
MLC1	23209	broad.mit.edu	37	22	50502619	50502619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50502619G>A	ENST00000311597.5	-	11	1509	c.903C>T	c.(901-903)taC>taT	p.Y301Y	MLC1_ENST00000395876.2_Silent_p.Y301Y|MLC1_ENST00000431262.2_Silent_p.Y271Y|MLC1_ENST00000538737.1_Silent_p.Y267Y|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000450140.2_Silent_p.Y249Y|MLC1_ENST00000535444.1_Silent_p.Y222Y	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	301					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		gcagcaCATCGTAGGATGGCT	0.652																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(901-903)taC>taT		megalencephalic leukoencephalopathy with subcortical cysts 1							19.0	18.0	19.0					22																	50502619		2200	4291	6491	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50502619G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.903C>T	22.37:g.50502619G>A						MLC1_ENST00000538737.1_Silent_p.Y267Y|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.Y301Y|MLC1_ENST00000431262.2_Silent_p.Y271Y|MLC1_ENST00000450140.2_Silent_p.Y249Y|MLC1_ENST00000535444.1_Silent_p.Y222Y	p.Y301Y	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	11	1509	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	301					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.903C>T	CCDS14083.1																																																																																				0.652	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		5	7	0	0	0	1	0	5	7				
MCC	4163	broad.mit.edu	37	5	112406886	112406886	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406886G>T	ENST00000302475.4	-	10	1823	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.T357T|MCC_ENST00000408903.3_Silent_p.T610T	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	420					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATTCCTCCAAGGTTATGGTCA	0.463																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1258-1260)acC>acA		mutated in colorectal cancers							248.0	217.0	227.0					5																	112406886		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112406886G>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1260C>A	5.37:g.112406886G>T						MCC_ENST00000515367.2_Silent_p.T357T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.T610T	p.T420T	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	10	1823	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	420					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.1260C>A	CCDS4111.1																																																																																				0.463	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		14	133	1	0	0.146539	1	0.149173	14	133				
TMC6	11322	broad.mit.edu	37	17	76117674	76117674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76117674G>A	ENST00000590602.1	-	11	1505	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.A88V|TMC6_ENST00000322933.4_Missense_Mutation_p.A88V|TMC6_ENST00000322914.3_Missense_Mutation_p.A449V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.A222V|TMC6_ENST00000392467.3_Missense_Mutation_p.A449V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	449					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACGGCCACGGCGCAGCCCAG	0.697																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1345-1347)gCc>gTc		transmembrane channel-like 6							25.0	32.0	30.0					17																	76117674		2194	4297	6491	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76117674G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1346C>T	17.37:g.76117674G>A	ENSP00000465261:p.Ala449Val					TMC6_ENST00000392467.3_Missense_Mutation_p.A449V|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.A88V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.A88V|TMC6_ENST00000589553.1_Missense_Mutation_p.A222V|TMC6_ENST00000322914.3_Missense_Mutation_p.A449V	p.A449V			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		11	1505	-			449					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1346C>T	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	6.326	0.428321	0.11987	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71579	0.93;0.93;-0.58	4.49	3.47	0.39725	.	0.480140	0.22440	N	0.060036	T	0.44052	0.1275	N	0.11064	0.09	0.09310	N	1	B;B;B;B	0.20780	0.048;0.01;0.017;0.004	B;B;B;B	0.21360	0.034;0.013;0.016;0.002	T	0.19160	-1.0314	10	0.15952	T	0.53	-2.5829	4.2213	0.10559	0.0895:0.1576:0.5902:0.1627	.	222;449;449;88	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	V	449;449;88	ENSP00000313408:A449V;ENSP00000376260:A449V;ENSP00000313479:A88V	ENSP00000313408:A449V	A	-	2	0	TMC6	73629269	0.147000	0.22687	0.004000	0.12327	0.059000	0.15707	3.268000	0.51585	0.799000	0.34018	0.462000	0.41574	GCC		0.697	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			10	11	0	0	0	1	0	10	11				
GDPD5	81544	broad.mit.edu	37	11	75168791	75168791	+	Missense_Mutation	SNP	C	C	T	rs374859180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75168791C>T	ENST00000336898.3	-	5	1099	c.262G>A	c.(262-264)Gta>Ata	p.V88I	GDPD5_ENST00000443276.2_Missense_Mutation_p.V88I|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000529721.1_Missense_Mutation_p.V88I|GDPD5_ENST00000533784.1_Intron	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	88					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGATGGGTACGGGCCAGTCG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16686	0.0		0.0	False		,,,				2504	0.001					ENST00000336898.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(262-264)Gta>Ata		glycerophosphodiester phosphodiesterase domain containing 5		C	ILE/VAL	0,4400		0,0,2200	118.0	103.0	108.0		262	3.5	0.9	11		108	1,8585	1.2+/-3.3	0,1,4292	no	missense	GDPD5	NM_030792.6	29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign	88/606	75168791	1,12985	2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75168791C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.262G>A	11.37:g.75168791C>T	ENSP00000337972:p.Val88Ile					GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000529721.1_Missense_Mutation_p.V88I|GDPD5_ENST00000443276.2_Missense_Mutation_p.V88I	p.V88I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN			5	1099	-			88					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.262G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	4.937	0.174147	0.09391	0.0	1.16E-4	ENSG00000158555	ENST00000529721;ENST00000336898;ENST00000443276	T;T;T	0.20200	2.09;2.09;2.09	5.54	3.45	0.39498	.	0.188581	0.46145	D	0.000315	T	0.05868	0.0153	N	0.03050	-0.425	0.33655	D	0.608983	B	0.19583	0.037	B	0.08055	0.003	T	0.29397	-1.0013	10	0.02654	T	1	-28.7209	5.0973	0.14740	0.0:0.6493:0.0:0.3507	.	88	Q8WTR4	GDPD5_HUMAN	I	88	ENSP00000433214:V88I;ENSP00000337972:V88I;ENSP00000396535:V88I	ENSP00000337972:V88I	V	-	1	0	GDPD5	74846439	0.965000	0.33210	0.868000	0.34077	0.919000	0.55068	2.113000	0.41902	1.347000	0.45714	-0.137000	0.14449	GTA		0.637	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		17	34	0	0	0	1	0	17	34				
CD163L1	283316	broad.mit.edu	37	12	7522096	7522096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7522096G>A	ENST00000313599.3	-	15	3953	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1309V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1299V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1299	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCAAACGAAGCGTCCCTCAG	0.592																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3895-3897)gCt>gTt		CD163 molecule-like 1							114.0	108.0	110.0					12																	7522096		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522096G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3896C>T	12.37:g.7522096G>A	ENSP00000315945:p.Ala1299Val					CD163L1_ENST00000416109.2_Missense_Mutation_p.A1309V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1299V	p.A1299V			Q9NR16	C163B_HUMAN			15	3953	-			1299			SRCR 12.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3896C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897200	0.52121	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34472	1.36;1.36;1.36	2.67	0.54	0.17163	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.123786	0.34853	U	0.003636	T	0.61311	0.2337	M	0.93638	3.44	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.51949	-0.8640	10	0.87932	D	0	.	4.6646	0.12659	0.0:0.248:0.4981:0.2538	.	1309;1299	E7EVK4;Q9NR16	.;C163B_HUMAN	V	1299;1309;1299	ENSP00000315945:A1299V;ENSP00000393474:A1309V;ENSP00000379871:A1299V	ENSP00000315945:A1299V	A	-	2	0	CD163L1	7413363	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	6.240000	0.72363	0.114000	0.18032	0.563000	0.77884	GCT		0.592	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		45	61	0	0	0	1	0	45	61				
NFIL3	4783	broad.mit.edu	37	9	94172307	94172307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172307C>T	ENST00000297689.3	-	2	1104	c.710G>A	c.(709-711)gGc>gAc	p.G237D		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	237					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAAGAGCCTCGGTCATC	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(709-711)gGc>gAc		nuclear factor, interleukin 3 regulated							128.0	127.0	128.0					9																	94172307		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172307C>T	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.710G>A	9.37:g.94172307C>T	ENSP00000297689:p.Gly237Asp						p.G237D	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1104	-			237					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.710G>A	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	8.513	0.866883	0.17250	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.56	3.66	0.41972	Vertebrate interleukin-3 regulated transcription factor (1);	0.289691	0.31884	N	0.006914	T	0.39911	0.1096	L	0.54323	1.7	0.09310	N	0.999999	P	0.35793	0.521	B	0.40901	0.343	T	0.23511	-1.0186	9	0.35671	T	0.21	-17.6902	9.0995	0.36660	0.0:0.8324:0.0:0.1676	.	237	Q16649	NFIL3_HUMAN	D	237	.	ENSP00000297689:G237D	G	-	2	0	NFIL3	93212128	0.906000	0.30813	0.007000	0.13788	0.039000	0.13416	2.688000	0.46984	1.152000	0.42452	0.491000	0.48974	GGC		0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		32	42	0	0	0	1	0	32	42				
ATP8B2	57198	broad.mit.edu	37	1	154303299	154303299	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154303299C>T	ENST00000368489.3	+	4	198	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.C52C|ATP8B2_ENST00000368487.3_Silent_p.C33C	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	52					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAGTAACTGCATCAAGACCT	0.488																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(196-198)tgC>tgT		ATPase, aminophospholipid transporter, class I, type 8B, member 2							120.0	101.0	107.0					1																	154303299		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303299C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.198C>T	1.37:g.154303299C>T						ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.C52C|ATP8B2_ENST00000368487.3_Silent_p.C33C	p.C66C	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	198	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		52					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.198C>T	CCDS1066.1																																																																																				0.488	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		4	43	0	0	0	1	0	4	43				
CHD2	1106	broad.mit.edu	37	15	93489432	93489432	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93489432A>G	ENST00000394196.4	+	12	2431	c.1363A>G	c.(1363-1365)Aca>Gca	p.T455A	CHD2_ENST00000420239.2_Missense_Mutation_p.T455A|CHD2_ENST00000536619.1_Missense_Mutation_p.T468A|CHD2_ENST00000557381.1_Missense_Mutation_p.T455A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	455	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AACCATCCCAACAAGAGAATG	0.398																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(1363-1365)Aca>Gca		chromodomain helicase DNA binding protein 2							69.0	71.0	70.0					15																	93489432		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489432A>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1363A>G	15.37:g.93489432A>G	ENSP00000377747:p.Thr455Ala					CHD2_ENST00000420239.2_Missense_Mutation_p.T455A|CHD2_ENST00000536619.1_Missense_Mutation_p.T468A|CHD2_ENST00000557381.1_Missense_Mutation_p.T455A	p.T455A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	2431	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		455			Chromo 2.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.1363A>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630792	0.28978	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.92965	-3.14;-3.14;0.96;0.95	5.57	4.45	0.53987	Chromo domain/shadow (1);	0.000000	0.35067	U	0.003462	D	0.86176	0.5870	L	0.34521	1.04	0.38649	D	0.951808	B;B;B	0.18968	0.002;0.032;0.022	B;B;B	0.23716	0.004;0.048;0.022	T	0.80723	-0.1255	10	0.31617	T	0.26	-40.2048	8.7334	0.34514	0.8545:0.0:0.1455:0.0	.	468;455;455	B7Z3I4;O14647;O14647-2	.;CHD2_HUMAN;.	A	455;455;455;468	ENSP00000377747:T455A;ENSP00000451366:T455A;ENSP00000406581:T455A;ENSP00000443618:T468A	ENSP00000377747:T455A	T	+	1	0	CHD2	91290436	0.999000	0.42202	0.449000	0.26957	0.993000	0.82548	4.476000	0.60216	1.060000	0.40578	0.533000	0.62120	ACA		0.398	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	55	0	0	0	1	0	3	55				
TACC3	10460	broad.mit.edu	37	4	1746548	1746548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1746548G>A	ENST00000313288.4	+	15	2546	c.2440G>A	c.(2440-2442)Gtg>Atg	p.V814M		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	814					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGAAGACAGTGGAGCAGAA	0.657																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2440-2442)Gtg>Atg		transforming, acidic coiled-coil containing protein 3							35.0	36.0	35.0					4																	1746548		2202	4300	6502	SO:0001583	missense	10460					centrosome		g.chr4:1746548G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2440G>A	4.37:g.1746548G>A	ENSP00000326550:p.Val814Met						p.V814M	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		15	2546	+		Breast(71;0.212)|all_epithelial(65;0.241)	814					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.2440G>A	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693121	0.30052	.	.	ENSG00000013810	ENST00000313288	T	0.45668	0.89	5.21	1.33	0.21861	.	0.297509	0.22735	N	0.056272	T	0.50548	0.1622	L	0.52364	1.645	0.25356	N	0.98883	D;D	0.76494	0.968;0.999	P;D	0.73708	0.824;0.981	T	0.30679	-0.9970	10	0.45353	T	0.12	-18.471	6.8008	0.23750	0.2194:0.3796:0.401:0.0	.	814;814	Q2NKK4;Q9Y6A5	.;TACC3_HUMAN	M	814	ENSP00000326550:V814M	ENSP00000326550:V814M	V	+	1	0	TACC3	1716346	0.718000	0.27976	0.096000	0.21009	0.205000	0.24178	1.312000	0.33574	0.342000	0.23796	0.655000	0.94253	GTG		0.657	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			4	31	0	0	0	1	0	4	31				
DYRK1A	1859	broad.mit.edu	37	21	38845169	38845169	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38845169C>A	ENST00000398960.2	+	2	269	c.194C>A	c.(193-195)cCt>cAt	p.P65H	DYRK1A_ENST00000339659.4_Missense_Mutation_p.P65H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.P65H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.P65H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.P65H|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000451934.1_Missense_Mutation_p.P65H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	65					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCAGCAACCTCTAACTAAC	0.408																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(193-195)cCt>cAt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							123.0	107.0	112.0					21																	38845169		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38845169C>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.194C>A	21.37:g.38845169C>A	ENSP00000381932:p.Pro65His					DYRK1A_ENST00000398956.2_Missense_Mutation_p.P65H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.P65H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.P65H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.P65H|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P65H	p.P65H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			2	1664	+			65					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.194C>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533953	0.85812	.	.	ENSG00000157540	ENST00000338785;ENST00000426672;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T;T	0.58060	0.43;0.82;0.4;0.44;0.43;0.36;0.45	6.16	6.16	0.99307	.	0.054860	0.85682	D	0.000000	T	0.59514	0.2199	L	0.38175	1.15	0.80722	D	1	D;D;P;D;D	0.59357	0.969;0.985;0.906;0.982;0.969	B;P;B;P;P	0.52909	0.417;0.713;0.36;0.54;0.54	T	0.58869	-0.7560	10	0.66056	D	0.02	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	65;65;65;65;65	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	H	65	ENSP00000342690:P65H;ENSP00000412269:P65H;ENSP00000340373:P65H;ENSP00000319032:P65H;ENSP00000416089:P65H;ENSP00000381932:P65H;ENSP00000381929:P65H	ENSP00000319032:P65H	P	+	2	0	DYRK1A	37767039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.503000	0.66962	2.937000	0.99478	0.650000	0.86243	CCT		0.408	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		6	100	1	0	0.0215528	1	0.0221649	6	100				
MDN1	23195	broad.mit.edu	37	6	90428292	90428292	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90428292T>C	ENST00000369393.3	-	43	6491	c.6376A>G	c.(6376-6378)Agg>Ggg	p.R2126G	MDN1_ENST00000428876.1_Missense_Mutation_p.R2126G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2126					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AACAGTGCCCTTACAGTTCCC	0.463																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6376-6378)Agg>Ggg		MDN1, midasin homolog (yeast)							121.0	110.0	114.0					6																	90428292		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90428292T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6376A>G	6.37:g.90428292T>C	ENSP00000358400:p.Arg2126Gly					MDN1_ENST00000428876.1_Missense_Mutation_p.R2126G	p.R2126G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	43	6491	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2126					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6376A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	1.563	-0.536267	0.04082	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	5.91	3.41	0.39046	ATPase, AAA+ type, core (1);	0.276011	0.41294	D	0.000920	T	0.01387	0.0045	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.20384	0.029	T	0.46162	-0.9211	10	0.23891	T	0.37	.	12.7742	0.57437	0.0:0.0:0.2588:0.7412	.	2126	Q9NU22	MDN1_HUMAN	G	2126	ENSP00000358400:R2126G;ENSP00000413970:R2126G	ENSP00000358400:R2126G	R	-	1	2	MDN1	90485013	0.976000	0.34144	0.006000	0.13384	0.002000	0.02628	1.947000	0.40293	0.435000	0.26365	-0.321000	0.08615	AGG		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			19	46	0	0	0	1	0	19	46				
DNAH9	1770	broad.mit.edu	37	17	11790177	11790177	+	Silent	SNP	C	C	T	rs151325104	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11790177C>T	ENST00000262442.4	+	57	11075	c.11007C>T	c.(11005-11007)aaC>aaT	p.N3669N	DNAH9_ENST00000454412.2_Silent_p.N3669N|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3669					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAATCAACGAGGCCCGAG	0.522																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11005-11007)aaC>aaT		dynein, axonemal, heavy chain 9		C	,	7,4399	12.9+/-30.5	0,7,2196	85.0	77.0	80.0		11007,	-9.3	0.6	17	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous,utr-5	DNAH9	NM_001372.3,NM_004662.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	3669/4487,	11790177	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11790177C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11007C>T	17.37:g.11790177C>T						DNAH9_ENST00000454412.2_Silent_p.N3669N|DNAH9_ENST00000396001.2_5'UTR	p.N3669N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	57	11075	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3669					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.11007C>T	CCDS11160.1																																																																																				0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		22	37	0	0	0	1	0	22	37				
NGLY1	55768	broad.mit.edu	37	3	25773921	25773921	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773921A>G	ENST00000280700.5	-	9	1474	c.1314T>C	c.(1312-1314)atT>atC	p.I438I	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Silent_p.I420I|NGLY1_ENST00000396649.3_Silent_p.I438I|NGLY1_ENST00000417874.2_Silent_p.I396I|NGLY1_ENST00000467224.1_Intron	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	438					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAGCTCCACAATTATCCTCT	0.398																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1258-1260)atT>atC		N-glycanase 1							89.0	90.0	89.0					3																	25773921		2203	4300	6503	SO:0001819	synonymous_variant	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25773921A>G	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1314T>C	3.37:g.25773921A>G						NGLY1_ENST00000280700.5_Silent_p.I438I|NGLY1_ENST00000417874.2_Silent_p.I396I|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Silent_p.I438I	p.I420I	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			9	1367	-			438					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Silent	SNP	ENST00000280700.5	37	c.1260T>C	CCDS33719.1																																																																																				0.398	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			6	61	0	0	0	1	0	6	61				
CD101	9398	broad.mit.edu	37	1	117561089	117561089	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117561089G>A	ENST00000256652.4	+	6	1982	c.1924G>A	c.(1924-1926)Gta>Ata	p.V642I	CD101_ENST00000369470.1_Missense_Mutation_p.V642I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	642	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGTGTGAAGTAGAAGTTTA	0.483																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1924-1926)Gta>Ata		CD101 molecule							87.0	87.0	87.0					1																	117561089		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117561089G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1924G>A	1.37:g.117561089G>A	ENSP00000256652:p.Val642Ile					CD101_ENST00000369470.1_Missense_Mutation_p.V642I	p.V642I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			6	1982	+			642			Ig-like C2-type 5.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.1924G>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289023	0.59976	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	D;D	0.95377	-3.69;-3.69	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000211	D	0.92561	0.7637	M	0.72118	2.19	0.25707	N	0.985527	B	0.33857	0.429	B	0.38683	0.279	D	0.88072	0.2801	10	0.40728	T	0.16	-9.4002	13.8612	0.63561	0.0:0.0:1.0:0.0	.	642	Q93033	IGSF2_HUMAN	I	642	ENSP00000256652:V642I;ENSP00000358482:V642I	ENSP00000256652:V642I	V	+	1	0	CD101	117362612	0.634000	0.27190	0.591000	0.28745	0.428000	0.31595	4.638000	0.61353	2.653000	0.90120	0.655000	0.94253	GTA		0.483	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		11	75	0	0	0	1	0	11	75				
IARS2	55699	broad.mit.edu	37	1	220320874	220320874	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220320874T>G	ENST00000302637.5	+	23	3040	c.2936T>G	c.(2935-2937)gTc>gGc	p.V979G	IARS2_ENST00000366922.1_Missense_Mutation_p.V907G	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	979					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAGTAATTGTCATGCCGACT	0.388																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2719-2721)gTc>gGc		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						108.0	113.0	111.0					1																	220320874		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220320874T>G	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2936T>G	1.37:g.220320874T>G	ENSP00000303279:p.Val979Gly					IARS2_ENST00000302637.5_Missense_Mutation_p.V979G	p.V907G			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	23	3051	+			979	I -> T (in Ref. 6; BAB14164).				B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.2720T>G	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694176	0.68386	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.15139	2.45;2.45	5.65	5.65	0.86999	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.261224	0.37669	N	0.001988	T	0.12603	0.0306	N	0.14661	0.345	0.58432	D	0.999992	P	0.49635	0.926	P	0.44597	0.454	T	0.03249	-1.1056	10	0.87932	D	0	-21.1069	10.5532	0.45101	0.0:0.0813:0.0:0.9187	.	979	Q9NSE4	SYIM_HUMAN	G	907;979	ENSP00000355889:V907G;ENSP00000303279:V979G	ENSP00000303279:V979G	V	+	2	0	IARS2	218387497	0.993000	0.37304	0.986000	0.45419	0.903000	0.53119	2.276000	0.43408	2.152000	0.67230	0.477000	0.44152	GTC		0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		20	61	0	0	0	1	0	20	61				
FBXO39	162517	broad.mit.edu	37	17	6683897	6683897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683897C>T	ENST00000321535.4	+	2	840	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	237										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACTGTATCTCCGACGAGCTG	0.512																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(709-711)tCc>tTc		F-box protein 39							99.0	88.0	91.0					17																	6683897		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683897C>T	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.710C>T	17.37:g.6683897C>T	ENSP00000321386:p.Ser237Phe						p.S237F	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	840	+			237						Missense_Mutation	SNP	ENST00000321535.4	37	c.710C>T	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492663	0.64074	.	.	ENSG00000177294	ENST00000321535	T	0.56103	0.48	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000015	T	0.62085	0.2399	L	0.34521	1.04	0.46167	D	0.998909	D	0.65815	0.995	D	0.75484	0.986	T	0.63821	-0.6550	10	0.66056	D	0.02	-21.795	14.5876	0.68339	0.0:1.0:0.0:0.0	.	237	Q8N4B4	FBX39_HUMAN	F	237	ENSP00000321386:S237F	ENSP00000321386:S237F	S	+	2	0	FBXO39	6624621	0.998000	0.40836	0.962000	0.40283	0.988000	0.76386	5.068000	0.64364	2.708000	0.92522	0.650000	0.86243	TCC		0.512	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		5	74	0	0	0	1	0	5	74				
FAM13B	51306	broad.mit.edu	37	5	137342722	137342722	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137342722T>C	ENST00000033079.3	-	7	1256	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FAM13B_ENST00000420893.2_Missense_Mutation_p.M269V|FAM13B_ENST00000425075.2_Missense_Mutation_p.M151V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	269					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TTTTCAGTCATCCTTAATTGT	0.373																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(805-807)Atg>Gtg		family with sequence similarity 13, member B							233.0	206.0	215.0					5																	137342722		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137342722T>C	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.805A>G	5.37:g.137342722T>C	ENSP00000033079:p.Met269Val					FAM13B_ENST00000420893.2_Missense_Mutation_p.M269V|FAM13B_ENST00000425075.2_Missense_Mutation_p.M151V	p.M269V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			7	1256	-			269					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.805A>G	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243623	0.39697	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.21191	3.15;2.02;3.15	5.82	4.59	0.56863	.	0.395363	0.31577	N	0.007411	T	0.10895	0.0266	N	0.16478	0.41	0.23050	N	0.998371	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24799	-1.0150	10	0.16896	T	0.51	-4.5246	7.4788	0.27393	0.0:0.0742:0.143:0.7829	.	151;269;269	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	V	269;151;269	ENSP00000033079:M269V;ENSP00000394669:M151V;ENSP00000388521:M269V	ENSP00000033079:M269V	M	-	1	0	FAM13B	137370621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.391000	0.44424	2.225000	0.72522	0.477000	0.44152	ATG		0.373	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			14	122	0	0	0	1	0	14	122				
KCNJ10	3766	broad.mit.edu	37	1	160012180	160012180	+	Missense_Mutation	SNP	C	C	T	rs201907875		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160012180C>T	ENST00000368089.3	-	2	369	c.143G>A	c.(142-144)cGc>cAc	p.R48H	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	48					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GTAGAGGAAGCGCTTGTCGGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		22524	0.001		0.0	False		,,,				2504	0.0				GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(142-144)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 10							198.0	165.0	176.0					1																	160012180		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012180C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.143G>A	1.37:g.160012180C>T	ENSP00000357068:p.Arg48His						p.R48H	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	369	-	all_hematologic(112;0.093)		48					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.143G>A	CCDS1193.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.80	1.745746	0.30955	.	.	ENSG00000177807	ENST00000368089	D	0.96168	-3.93	5.17	5.17	0.71159	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.121611	0.56097	D	0.000027	D	0.89801	0.6820	N	0.19112	0.55	0.42050	D	0.991117	P	0.36587	0.559	B	0.42319	0.383	D	0.89677	0.3888	10	0.34782	T	0.22	.	16.2022	0.82088	0.0:1.0:0.0:0.0	.	48	P78508	IRK10_HUMAN	H	48	ENSP00000357068:R48H	ENSP00000357068:R48H	R	-	2	0	KCNJ10	158278804	0.128000	0.22383	1.000000	0.80357	0.996000	0.88848	0.511000	0.22739	2.688000	0.91661	0.591000	0.81541	CGC		0.557	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		40	81	0	0	0	1	0	40	81				
FAM122B	159090	broad.mit.edu	37	X	133919928	133919928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133919928G>T	ENST00000370790.1	-	7	1418	c.490C>A	c.(490-492)Ctt>Att	p.L164I	FAM122B_ENST00000298090.6_Missense_Mutation_p.L183I|FAM122B_ENST00000486347.1_Missense_Mutation_p.L165I|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Missense_Mutation_p.L183I	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	164										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTTTAAGAGGACCAAGA	0.393																																						ENST00000370790.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6						c.(490-492)Ctt>Att		family with sequence similarity 122B							188.0	142.0	158.0					X																	133919928		2203	4300	6503	SO:0001583	missense	159090							g.chrX:133919928G>T	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.490C>A	X.37:g.133919928G>T	ENSP00000359826:p.Leu164Ile					FAM122B_ENST00000486347.1_Missense_Mutation_p.L165I|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Missense_Mutation_p.L183I|FAM122B_ENST00000298090.6_Missense_Mutation_p.L183I	p.L164I	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN			7	1418	-	Acute lymphoblastic leukemia(192;0.000127)		164					A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	ENST00000370790.1	37	c.490C>A	CCDS55497.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590626	0.28357	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000486347	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.72	-2.77	0.05877	.	0.710257	0.13125	N	0.411915	T	0.35393	0.0930	N	0.13198	0.31	0.32004	N	0.60296	B;B;B;B;B;B	0.24043	0.008;0.096;0.037;0.015;0.015;0.054	B;B;B;B;B;B	0.29524	0.036;0.103;0.024;0.025;0.025;0.034	T	0.31916	-0.9926	10	0.30078	T	0.28	.	8.7788	0.34778	0.0:0.2515:0.2634:0.4851	.	131;183;112;165;164;183	B4DN12;G1UD80;Q7Z309-5;Q7Z309-2;Q7Z309;Q7Z309-3	.;.;.;.;F122B_HUMAN;.	I	164;183;183;165	ENSP00000359826:L164I;ENSP00000298090:L183I;ENSP00000339207:L183I;ENSP00000419592:L165I	ENSP00000298090:L183I	L	-	1	0	FAM122B	133747594	0.998000	0.40836	0.186000	0.23195	0.974000	0.67602	1.123000	0.31308	-0.479000	0.06813	0.529000	0.55759	CTT		0.393	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	NM_145284		5	109	1	0	2.7689e-08	1	3.31013e-08	5	109				
HSPA12A	259217	broad.mit.edu	37	10	118451868	118451868	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118451868G>T	ENST00000369209.3	-	6	761	c.657C>A	c.(655-657)gcC>gcA	p.A219A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	219						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCACCTGGTAGGCAGCTTGTC	0.597																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(655-657)gcC>gcA		heat shock 70kDa protein 12A							99.0	108.0	105.0					10																	118451868		2194	4298	6492	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118451868G>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.657C>A	10.37:g.118451868G>T							p.A219A	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	6	761	-			219						Silent	SNP	ENST00000369209.3	37	c.657C>A	CCDS41569.1																																																																																				0.597	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		11	127	1	0	1.08611e-07	1	1.2824e-07	11	127				
OR56A3	390083	broad.mit.edu	37	11	5969408	5969408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5969408G>A	ENST00000329564.6	+	1	839	c.832G>A	c.(832-834)Gtc>Atc	p.V278I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGTGCCAGTCTTGCTCAA	0.483																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(832-834)Gtc>Atc		olfactory receptor, family 56, subfamily A, member 3							188.0	178.0	181.0					11																	5969408		2160	4274	6434	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969408G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.832G>A	11.37:g.5969408G>A	ENSP00000331572:p.Val278Ile						p.V278I	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	839	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	278					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.832G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.066384	0.01934	.	.	ENSG00000184478	ENST00000329564	T	0.00063	8.78	5.06	-1.62	0.08372	GPCR, rhodopsin-like superfamily (1);	0.401503	0.21252	N	0.077624	T	0.00039	0.0001	N	0.01091	-1.02	0.09310	N	0.999998	B	0.06786	0.001	B	0.15052	0.012	T	0.36432	-0.9748	10	0.02654	T	1	-32.6039	10.5169	0.44896	0.5758:0.0:0.4242:0.0	.	278	Q8NH54	O56A3_HUMAN	I	278	ENSP00000331572:V278I	ENSP00000331572:V278I	V	+	1	0	OR56A3	5925984	0.000000	0.05858	0.886000	0.34754	0.826000	0.46750	-1.571000	0.02138	-0.132000	0.11557	0.632000	0.83419	GTC		0.483	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		63	88	0	0	0	1	0	63	88				
C17orf47	284083	broad.mit.edu	37	17	56621448	56621448	+	Missense_Mutation	SNP	C	C	T	rs371900167		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56621448C>T	ENST00000321691.3	-	1	281	c.100G>A	c.(100-102)Gtt>Att	p.V34I	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	34										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGCAAGAACGTACCCATGT	0.532																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(100-102)Gtt>Att		chromosome 17 open reading frame 47		C	ILE/VAL	0,4406		0,0,2203	166.0	134.0	145.0		100	-9.5	0.0	17		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	C17orf47	NM_001038704.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	34/571	56621448	1,13005	2203	4300	6503	SO:0001583	missense	284083							g.chr17:56621448C>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.100G>A	17.37:g.56621448C>T	ENSP00000354874:p.Val34Ile					RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.V34I	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	281	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		34					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.100G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.839485	0.00573	0.0	1.16E-4	ENSG00000181013	ENST00000321691	T	0.28895	1.59	4.75	-9.51	0.00581	.	3.418900	0.00567	N	0.000288	T	0.09862	0.0242	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16041	-1.0416	10	0.05620	T	0.96	17.3735	4.0324	0.09714	0.2869:0.2779:0.3513:0.084	.	34	Q8NEP4	CQ047_HUMAN	I	34	ENSP00000354874:V34I	ENSP00000354874:V34I	V	-	1	0	C17orf47	53976447	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.114000	0.00080	-4.907000	0.00027	-1.108000	0.02087	GTT		0.532	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		31	43	0	0	0	1	0	31	43				
EIF3A	8661	broad.mit.edu	37	10	120819204	120819204	+	Silent	SNP	C	C	T	rs61729177		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120819204C>T	ENST00000369144.3	-	10	1480	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	EIF3A_ENST00000541549.1_Silent_p.E417E|SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AACGAGAAAACTCAATGCTCT	0.418																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(1351-1353)gaG>gaA		eukaryotic translation initiation factor 3, subunit A		C		0,4406		0,0,2203	96.0	90.0	92.0		1353	-1.7	1.0	10	dbSNP_129	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EIF3A	NM_003750.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		451/1383	120819204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120819204C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1353G>A	10.37:g.120819204C>T						EIF3A_ENST00000541549.1_Silent_p.E417E|EIF3A_ENST00000478852.1_Intron	p.E451E	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	10	1480	-		Lung NSC(174;0.094)|all_lung(145;0.123)	451			PCI.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.1353G>A	CCDS7608.1																																																																																				0.418	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		23	37	0	0	0	1	0	23	37				
SEC16A	9919	broad.mit.edu	37	9	139341773	139341773	+	Silent	SNP	C	C	T	rs371413495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139341773C>T	ENST00000371706.3	-	25	6102	c.6069G>A	c.(6067-6069)ggG>ggA	p.G2023G	SEC16A_ENST00000313084.5_Silent_p.G207G|SEC16A_ENST00000431893.2_Silent_p.G2023G|SEC16A_ENST00000313050.7_Silent_p.G2201G|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000290037.6_Silent_p.G2023G			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2023	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCGCTGGGTCCCGCTTGGGT	0.612																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6601-6603)ggG>ggA		SEC16 homolog A (S. cerevisiae)		C		0,4066		0,0,2033	17.0	23.0	21.0		6603	-4.1	0.0	9		21	1,8321		0,1,4160	no	coding-synonymous	SEC16A	NM_014866.1		0,1,6193	TT,TC,CC		0.012,0.0,0.0081		2201/2358	139341773	1,12387	2033	4161	6194	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139341773C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6069G>A	9.37:g.139341773C>T						SEC16A_ENST00000371706.3_Silent_p.G2023G|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000290037.6_Silent_p.G2023G|SEC16A_ENST00000431893.2_Silent_p.G2023G|SEC16A_ENST00000313084.5_Silent_p.G207G	p.G2201G	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	25	6676	-		Myeloproliferative disorder(178;0.0511)	2023					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.6603G>A		.	.	.	.	.	.	.	.	.	.	C	5.451	0.268301	0.10349	0.0	1.2E-4	ENSG00000148396	ENST00000433860	.	.	.	5.26	-4.08	0.03963	.	.	.	.	.	T	0.40347	0.1113	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	T	0.36792	-0.9733	4	.	.	.	-32.8961	4.0104	0.09619	0.1076:0.1265:0.482:0.2839	.	.	.	.	N	331	.	.	D	-	1	0	SEC16A	138461594	0.001000	0.12720	0.004000	0.12327	0.029000	0.11900	-0.211000	0.09332	-0.545000	0.06224	0.455000	0.32223	GAC		0.612	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		9	7	0	0	0	1	0	9	7				
ZC3H13	23091	broad.mit.edu	37	13	46619132	46619132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46619132C>T	ENST00000242848.4	-	3	533	c.185G>A	c.(184-186)gGc>gAc	p.G62D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G62D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	62							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGTGAAGGGCCATGTACGAA	0.373																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(184-186)gGc>gAc		zinc finger CCCH-type containing 13							145.0	139.0	141.0					13																	46619132		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46619132C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.185G>A	13.37:g.46619132C>T	ENSP00000242848:p.Gly62Asp					ZC3H13_ENST00000282007.3_Missense_Mutation_p.G62D	p.G62D			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	3	533	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	62					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.185G>A		.	.	.	.	.	.	.	.	.	.	C	15.44	2.834712	0.50951	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T;T	0.51574	0.7;0.7;0.7	5.24	5.24	0.73138	Zinc finger, CCCH-type (3);	0.000000	0.53938	D	0.000041	T	0.65657	0.2712	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67696	-0.5604	10	0.87932	D	0	.	19.1725	0.93585	0.0:1.0:0.0:0.0	.	62;62	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	D	62	ENSP00000242848:G62D;ENSP00000282007:G62D;ENSP00000416238:G62D	ENSP00000242848:G62D	G	-	2	0	ZC3H13	45517133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.187000	0.77730	2.596000	0.87737	0.591000	0.81541	GGC		0.373	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		23	29	0	0	0	1	0	23	29				
NRG1	3084	broad.mit.edu	37	8	32474382	32474382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32474382G>T	ENST00000405005.3	+	5	481	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Nonsense_Mutation_p.E161*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Nonsense_Mutation_p.E161*|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000356819.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Nonsense_Mutation_p.E161*|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E161*			Q02297	NRG1_HUMAN	neuregulin 1	161					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTATCCACAGAAGGAGCAAA	0.353																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(481-483)Gaa>Taa		neuregulin 1							90.0	94.0	93.0					8																	32474382		2202	4300	6502	SO:0001587	stop_gained	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32474382G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.481G>T	8.37:g.32474382G>T	ENSP00000384620:p.Glu161*					NRG1_ENST00000287840.5_Nonsense_Mutation_p.E161*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Nonsense_Mutation_p.E161*|NRG1_ENST00000287842.3_Nonsense_Mutation_p.E161*|NRG1_ENST00000523079.1_Nonsense_Mutation_p.E161*|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000356819.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E161*	p.E161*			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	5	998	+		Breast(100;0.203)	161					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Nonsense_Mutation	SNP	ENST00000405005.3	37	c.481G>T	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.135592|10.135592	0.99344|0.99344	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670|ENST00000518206	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.367868|.	0.28104|.	N|.	0.016584|.	.|T	.|0.71643	.|0.3364	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69691	.|-0.5077	.|4	0.54805|.	T|.	0.06|.	-3.2785|-3.2785	15.2744|15.2744	0.73732|0.73732	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	229;161;161;161;161;161;161;161;161|39	.|.	ENSP00000287840:E161X|.	E|Q	+|+	1|3	0|2	NRG1|NRG1	32593924|32593924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.888000|4.888000	0.63164|0.63164	2.663000|2.663000	0.90544|0.90544	0.557000|0.557000	0.71058|0.71058	GAA|CAG		0.353	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			5	109	1	0	1.23904e-05	1	1.39987e-05	5	109				
PAPD4	167153	broad.mit.edu	37	5	78975427	78975427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78975427C>T	ENST00000296783.3	+	14	1533	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	PAPD4_ENST00000504233.1_Missense_Mutation_p.R369C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R412C|PAPD4_ENST00000423041.2_Missense_Mutation_p.R408C|PAPD4_ENST00000453514.1_Missense_Mutation_p.R412C			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	412	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATTTCAGTTCGTGAAGCCAA	0.313																																						ENST00000453514.1																			0				biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1234-1236)Cgt>Tgt		PAP associated domain containing 4							111.0	102.0	105.0					5																	78975427		2203	4300	6503	SO:0001583	missense	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78975427C>T	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1234C>T	5.37:g.78975427C>T	ENSP00000296783:p.Arg412Cys					PAPD4_ENST00000504233.1_Missense_Mutation_p.R369C|PAPD4_ENST00000296783.3_Missense_Mutation_p.R412C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R412C|PAPD4_ENST00000423041.2_Missense_Mutation_p.R408C	p.R412C	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	13	1927	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	412			PAP-associated.		Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	c.1234C>T	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804361	0.90623	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	6.06	6.06	0.98353	PAP/25A-associated (1);	0.181768	0.48286	D	0.000193	D	0.94175	0.8131	H	0.94620	3.56	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;P	0.78314	0.991;0.979;0.786	D	0.94718	0.7898	10	0.87932	D	0	-3.9091	20.6282	0.99521	0.0:1.0:0.0:0.0	.	412;408;369	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	C	412;408;369;412;412	ENSP00000397563:R412C;ENSP00000393412:R408C;ENSP00000421966:R369C;ENSP00000396861:R412C;ENSP00000296783:R412C	ENSP00000296783:R412C	R	+	1	0	PAPD4	79011183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.130000	0.71663	2.871000	0.98454	0.655000	0.94253	CGT		0.313	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		18	33	0	0	0	1	0	18	33				
SUV39H1	6839	broad.mit.edu	37	X	48559102	48559102	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48559102G>T	ENST00000376687.3	+	3	976	c.786G>T	c.(784-786)gaG>gaT	p.E262D	SUV39H1_ENST00000337852.6_Missense_Mutation_p.E273D|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R110I|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	262	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCACCCTGGAGAAGATTCGCA	0.572																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(784-786)gaG>gaT		suppressor of variegation 3-9 homolog 1 (Drosophila)							44.0	32.0	36.0					X																	48559102		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48559102G>T	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.786G>T	X.37:g.48559102G>T	ENSP00000365877:p.Glu262Asp					SUV39H1_ENST00000453214.2_Missense_Mutation_p.R110I|SUV39H1_ENST00000337852.6_Missense_Mutation_p.E273D|AF196970.3_ENST00000416061.1_RNA	p.E262D	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			3	976	+			262			Mediates interaction with MECOM (By similarity).|SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.786G>T	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.25|13.25	2.179636|2.179636	0.38511|0.38511	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496|ENST00000448548;ENST00000453214	D;D|.	0.83075|.	-1.68;-1.68|.	4.99|4.99	2.2|2.2	0.27929|0.27929	SET domain (3);|.	0.063555|.	0.64402|.	D|.	0.000008|.	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.33710|0.33710	1.025|1.025	0.36085|0.36085	D|D	0.84305|0.84305	B;B|.	0.19583|.	0.037;0.037|.	B;B|.	0.29077|.	0.098;0.098|.	T|T	0.53739|0.53739	-0.8396|-0.8396	10|6	0.18710|0.87932	T|D	0.47|0	.|.	7.118|7.118	0.25427|0.25427	0.3183:0.0:0.6817:0.0|0.3183:0.0:0.6817:0.0	.|.	273;262|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	D|I	273;262;120|259;110	ENSP00000337976:E273D;ENSP00000365877:E262D|.	ENSP00000337976:E273D|ENSP00000410043:R259I	E|R	+|+	3|2	2|0	SUV39H1|SUV39H1	48444046|48444046	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.673000|0.673000	0.39480|0.39480	4.878000|4.878000	0.63093|0.63093	0.342000|0.342000	0.23796|0.23796	-0.261000|-0.261000	0.10672|0.10672	GAG|AGA		0.572	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		4	24	1	0	0.150653	1	0.152692	4	24				
DNAH6	1768	broad.mit.edu	37	2	84804521	84804521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:84804521C>T	ENST00000237449.6	+	12	2073	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	DNAH6_ENST00000389394.3_Nonsense_Mutation_p.R689*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.R689*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	689	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCACCTTTGCGATGCTTAGA	0.333																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2065-2067)Cga>Tga		dynein, axonemal, heavy chain 6							50.0	46.0	48.0					2																	84804521		2203	4299	6502	SO:0001587	stop_gained	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84804521C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2065C>T	2.37:g.84804521C>T	ENSP00000237449:p.Arg689*					DNAH6_ENST00000237449.6_Nonsense_Mutation_p.R689*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.R689*	p.R689*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			13	2202	+			689			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	ENST00000237449.6	37	c.2065C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	38	7.244440	0.98161	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	5.48	3.63	0.41609	.	0.000000	0.44285	D	0.000480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5812	0.56391	0.436:0.564:0.0:0.0	.	.	.	.	X	689	.	ENSP00000237449:R689X	R	+	1	2	DNAH6	84658032	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.992000	0.49417	0.647000	0.30713	0.561000	0.74099	CGA		0.333	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		9	17	0	0	0	1	0	9	17				
PMPCB	9512	broad.mit.edu	37	7	102944426	102944426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102944426G>A	ENST00000249269.4	+	5	633	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	PMPCB_ENST00000420236.2_Missense_Mutation_p.A94T|PMPCB_ENST00000428154.1_Missense_Mutation_p.A199T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	199					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTATCTTCATGCCACAGCTTA	0.373																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(595-597)Gcc>Acc		peptidase (mitochondrial processing) beta							107.0	103.0	104.0					7																	102944426		2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102944426G>A	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.595G>A	7.37:g.102944426G>A	ENSP00000249269:p.Ala199Thr					PMPCB_ENST00000428154.1_Missense_Mutation_p.A199T|PMPCB_ENST00000420236.2_Missense_Mutation_p.A94T	p.A199T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			5	633	+			199					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.595G>A	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584068	0.96578	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.19532	2.14;2.14;2.14	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	M	0.72894	2.215	0.80722	D	1	P;P;P;P;P;P;P	0.52692	0.662;0.732;0.945;0.945;0.945;0.945;0.955	P;B;P;P;P;P;P	0.54060	0.516;0.347;0.741;0.741;0.677;0.677;0.565	T	0.17653	-1.0362	10	0.51188	T	0.08	.	19.4828	0.95017	0.0:0.0:1.0:0.0	.	94;94;199;199;190;199;199	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	T	199;199;94	ENSP00000249269:A199T;ENSP00000390035:A199T;ENSP00000410393:A94T	ENSP00000249269:A199T	A	+	1	0	PMPCB	102731662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.602000	0.87976	0.650000	0.86243	GCC		0.373	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		6	67	0	0	0	1	0	6	67				
CYP27A1	1593	broad.mit.edu	37	2	219679440	219679440	+	Missense_Mutation	SNP	G	G	A	rs199638075		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679440G>A	ENST00000258415.4	+	8	1863	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	479			R -> C (in CTX). {ECO:0000269|PubMed:2019602}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TGCCTGGGCCGCAGGATTGCA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17963	0.001		0.0	False		,,,				2504	0.0					ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(1435-1437)cGc>cAc		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						28.0	31.0	30.0					2																	219679440		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679440G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1436G>A	2.37:g.219679440G>A	ENSP00000258415:p.Arg479His						p.R479H	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	8	1863	+		Renal(207;0.0474)	479		R -> C (in CTX).			A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.1436G>A	CCDS2423.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.4	4.913130	0.92178	.	.	ENSG00000135929	ENST00000258415	T	0.70631	-0.5	5.25	4.36	0.52297	.	0.182922	0.47093	D	0.000243	D	0.84032	0.5383	M	0.79693	2.465	0.52501	D	0.999953	D	0.89917	1.0	D	0.83275	0.996	D	0.86269	0.1660	10	0.87932	D	0	-21.5566	14.1685	0.65493	0.0:0.0:0.849:0.151	.	479	Q02318	CP27A_HUMAN	H	479	ENSP00000258415:R479H	ENSP00000258415:R479H	R	+	2	0	CYP27A1	219387684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.620000	0.74224	1.160000	0.42584	0.561000	0.74099	CGC		0.652	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			12	19	0	0	0	1	0	12	19				
GLB1L2	89944	broad.mit.edu	37	11	134212785	134212785	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134212785G>T	ENST00000535456.2	+	2	412	c.224G>T	c.(223-225)aGg>aTg	p.R75M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.R75M|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R75M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	75					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGTGCCCAGGGAGTACTGG	0.612																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(223-225)aGg>aTg		galactosidase, beta 1-like 2							76.0	73.0	74.0					11																	134212785		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134212785G>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.224G>T	11.37:g.134212785G>T	ENSP00000444628:p.Arg75Met					GLB1L2_ENST00000389881.3_Missense_Mutation_p.R75M|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R75M	p.R75M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	2	412	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	75					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.224G>T	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.329|7.329	0.618574|0.618574	0.14129|0.14129	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089|ENST00000339772;ENST00000535456;ENST00000389881	.|D;D;D	.|0.98164	.|-4.76;-4.76;-4.76	4.72|4.72	-4.41|-4.41	0.03590|0.03590	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.414623	.|0.26424	.|N	.|0.024445	D|D	0.98175|0.98175	0.9397|0.9397	H|H	0.95365|0.95365	3.66|3.66	0.09310|0.09310	N|N	1|1	.|P	.|0.35307	.|0.494	.|P	.|0.45232	.|0.474	D|D	0.96915|0.96915	0.9670|0.9670	5|10	.|0.62326	.|D	.|0.03	-8.206|-8.206	8.1921|8.1921	0.31374|0.31374	0.5306:0.1085:0.3609:0.0|0.5306:0.1085:0.3609:0.0	.|.	.|75	.|Q8IW92	.|GLBL2_HUMAN	H|M	13|75	.|ENSP00000344659:R75M;ENSP00000444628:R75M;ENSP00000374531:R75M	.|ENSP00000344659:R75M	Q|R	+|+	3|2	2|0	GLB1L2|GLB1L2	133717995|133717995	0.523000|0.523000	0.26274|0.26274	0.010000|0.010000	0.14722|0.14722	0.014000|0.014000	0.08584|0.08584	-0.112000|-0.112000	0.10791|0.10791	-1.320000|-1.320000	0.02283|0.02283	-1.069000|-1.069000	0.02264|0.02264	CAG|AGG		0.612	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		5	73	1	0	0.184627	1	0.186383	5	73				
MCOLN1	57192	broad.mit.edu	37	19	7595356	7595356	+	Missense_Mutation	SNP	C	C	T	rs151300825		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7595356C>T	ENST00000264079.6	+	12	1669	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	515					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTTCATCGCGCTCATCACC	0.622																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1543-1545)gCg>gTg		mucolipin 1		C	VAL/ALA	0,4406		0,0,2203	203.0	191.0	195.0		1544	5.3	1.0	19	dbSNP_134	195	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCOLN1	NM_020533.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	515/581	7595356	1,13005	2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595356C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1544C>T	19.37:g.7595356C>T	ENSP00000264079:p.Ala515Val						p.A515V	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1669	+			515					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1544C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502034	0.85176	0.0	1.16E-4	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.73681	-0.77	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.72982	0.843;0.979	D	0.85012	0.0906	10	0.66056	D	0.02	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	480;515	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	V	515;480	ENSP00000264079:A515V	ENSP00000264079:A515V	A	+	2	0	MCOLN1	7501356	1.000000	0.71417	0.999000	0.59377	0.734000	0.41952	7.487000	0.81328	2.478000	0.83669	0.563000	0.77884	GCG		0.622	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		67	89	0	0	0	1	0	67	89				
CCDC106	29903	broad.mit.edu	37	19	56160635	56160635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56160635G>T	ENST00000586790.1	+	2	1000	c.96G>T	c.(94-96)caG>caT	p.Q32H	CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q32H|CCDC106_ENST00000308964.3_Missense_Mutation_p.Q32H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Q32H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	32						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGACCCACAGATCTTTTACA	0.582																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(94-96)caG>caT		coiled-coil domain containing 106							117.0	115.0	116.0					19																	56160635		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160635G>T	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.96G>T	19.37:g.56160635G>T	ENSP00000465757:p.Gln32His					CCDC106_ENST00000308964.3_Missense_Mutation_p.Q32H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Q32H|CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q32H	p.Q32H			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	1000	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	32					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.96G>T	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149192	0.37923	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.5	0.996	0.19844	.	0.253075	0.33813	N	0.004531	T	0.33323	0.0859	L	0.32530	0.975	0.80722	D	1	P	0.47191	0.891	P	0.44990	0.466	T	0.04870	-1.0921	9	0.35671	T	0.21	-12.3307	4.7087	0.12861	0.1297:0.2228:0.6476:0.0	.	32	Q9BWC9	CC106_HUMAN	H	32	.	ENSP00000309681:Q32H	Q	+	3	2	CCDC106	60852447	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.652000	0.24888	0.790000	0.33803	0.561000	0.74099	CAG		0.582	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		11	100	1	0	1.58986e-06	1	1.84011e-06	11	100				
CSN3	1448	broad.mit.edu	37	4	71110547	71110547	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71110547T>A	ENST00000304954.3	+	2	97	c.11T>A	c.(10-12)tTt>tAt	p.F4Y		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGAAGAGTTTTCTTCTAGTT	0.284																																						ENST00000304954.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(10-12)tTt>tAt		casein kappa							82.0	79.0	80.0					4																	71110547		2202	4294	6496	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71110547T>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.11T>A	4.37:g.71110547T>A	ENSP00000304822:p.Phe4Tyr						p.F4Y	NM_005212.2	NP_005203.2	P07498	CASK_HUMAN			2	97	+			4					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.11T>A	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600739	0.46423	.	.	ENSG00000171209	ENST00000304954	T	0.27557	1.66	4.08	4.08	0.47627	.	0.464590	0.18337	N	0.144307	T	0.47764	0.1463	L	0.61218	1.895	0.22389	N	0.999147	D	0.76494	0.999	D	0.66084	0.941	T	0.28839	-1.0031	10	0.72032	D	0.01	.	9.7345	0.40379	0.0:0.0:0.0:1.0	.	4	P07498	CASK_HUMAN	Y	4	ENSP00000304822:F4Y	ENSP00000304822:F4Y	F	+	2	0	CSN3	71145136	0.029000	0.19370	0.496000	0.27539	0.918000	0.54935	1.981000	0.40628	2.078000	0.62432	0.455000	0.32223	TTT		0.284	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		7	45	0	0	0	1	0	7	45				
CNTNAP1	8506	broad.mit.edu	37	17	40845514	40845514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40845514C>A	ENST00000264638.4	+	18	3169	c.2952C>A	c.(2950-2952)gaC>gaA	p.D984E	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	984	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACACGTGTGACTGTGACCTCA	0.587																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2950-2952)gaC>gaA		contactin associated protein 1							119.0	111.0	114.0					17																	40845514		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40845514C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2952C>A	17.37:g.40845514C>A	ENSP00000264638:p.Asp984Glu					CTD-3193K9.3_ENST00000592440.1_RNA	p.D984E	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	18	3169	+		Breast(137;0.000143)	984			EGF-like 2.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2952C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372110	0.82573	.	.	ENSG00000108797	ENST00000264638	D	0.84298	-1.83	5.69	3.69	0.42338	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.074250	0.56097	D	0.000031	D	0.88217	0.6377	M	0.75085	2.285	0.41300	D	0.987031	P	0.46395	0.877	P	0.52343	0.696	D	0.89232	0.3578	10	0.87932	D	0	.	11.4046	0.49889	0.0:0.8318:0.0:0.1682	.	984	P78357	CNTP1_HUMAN	E	984	ENSP00000264638:D984E	ENSP00000264638:D984E	D	+	3	2	CNTNAP1	38099040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.149000	0.42244	2.681000	0.91329	0.561000	0.74099	GAC		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		36	68	1	0	8.73648e-17	1	1.12908e-16	36	68				
OSBPL7	114881	broad.mit.edu	37	17	45886548	45886548	+	Silent	SNP	G	G	A	rs368998627		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45886548G>A	ENST00000007414.3	-	20	2255	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	OSBPL7_ENST00000392507.3_Silent_p.G688G	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	688					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.G688G(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGAGCACAGCGCCCTGCACCT	0.647																																						ENST00000007414.3																			1	Substitution - coding silent(1)	p.G688G(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2062-2064)ggC>ggT		oxysterol binding protein-like 7		G		0,4406		0,0,2203	51.0	53.0	53.0		2064	-10.0	0.7	17		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OSBPL7	NM_145798.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		688/843	45886548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114881				lipid transport		lipid binding	g.chr17:45886548G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2064C>T	17.37:g.45886548G>A						OSBPL7_ENST00000392507.3_Silent_p.G688G	p.G688G	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			20	2255	-			688					D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	c.2064C>T	CCDS11515.1																																																																																				0.647	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		23	30	0	0	0	1	0	23	30				
C1orf198	84886	broad.mit.edu	37	1	230991457	230991457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230991457G>A	ENST00000366663.5	-	2	481	c.341C>T	c.(340-342)aCt>aTt	p.T114I	C1orf198_ENST00000470540.1_Missense_Mutation_p.T76I|C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000523410.1_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	114						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCTTGCCAAGTTAGATCCTG	0.388																																						ENST00000366663.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(340-342)aCt>aTt		chromosome 1 open reading frame 198							94.0	100.0	98.0					1																	230991457		2203	4300	6503	SO:0001583	missense	84886							g.chr1:230991457G>A	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.341C>T	1.37:g.230991457G>A	ENSP00000355623:p.Thr114Ile					C1orf198_ENST00000523410.1_5'UTR|C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Missense_Mutation_p.T76I	p.T114I	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN			2	481	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	114					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.341C>T	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532891	0.64972	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000522201	T;T	0.35973	1.31;1.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.61277	-0.7095	10	0.62326	D	0.03	-12.7613	15.0374	0.71761	0.0:0.0:1.0:0.0	.	114	Q9H425	CA198_HUMAN	I	114;76;71	ENSP00000355623:T114I;ENSP00000428172:T76I	ENSP00000355623:T114I	T	-	2	0	C1orf198	229058080	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.059000	0.71133	2.609000	0.88269	0.563000	0.77884	ACT		0.388	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		31	112	0	0	0	1	0	31	112				
ARL4A	10124	broad.mit.edu	37	7	12727892	12727892	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12727892C>A	ENST00000396663.1	+	2	495	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	ARL4A_ENST00000396664.2_Missense_Mutation_p.L5M|ARL4A_ENST00000404894.1_Missense_Mutation_p.L5M|ARL4A_ENST00000356797.3_Missense_Mutation_p.L5M|ARL4A_ENST00000396662.1_Missense_Mutation_p.L5M	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	5					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGGGAATGGGCTGTCAGACCA	0.418																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(13-15)Ctg>Atg		ADP-ribosylation factor-like 4A							129.0	122.0	124.0					7																	12727892		2203	4300	6503	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12727892C>A	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.13C>A	7.37:g.12727892C>A	ENSP00000379898:p.Leu5Met					ARL4A_ENST00000356797.3_Missense_Mutation_p.L5M|ARL4A_ENST00000396664.2_Missense_Mutation_p.L5M|ARL4A_ENST00000404894.1_Missense_Mutation_p.L5M|ARL4A_ENST00000396662.1_Missense_Mutation_p.L5M	p.L5M	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	495	+			5					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.13C>A	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	C	2.058	-0.416195	0.04766	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000439721;ENST00000396663;ENST00000404894	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;0.65;-0.5;-0.5	5.03	2.22	0.28083	.	0.097389	0.41605	D	0.000844	T	0.59280	0.2182	L	0.39397	1.21	0.42558	D	0.993134	P	0.44877	0.845	B	0.41813	0.367	T	0.57400	-0.7818	10	0.59425	D	0.04	.	7.6552	0.28371	0.1342:0.7244:0.0:0.1414	.	5	P40617	ARL4A_HUMAN	M	5	ENSP00000379897:L5M;ENSP00000349250:L5M;ENSP00000379899:L5M;ENSP00000397651:L5M;ENSP00000379898:L5M;ENSP00000385236:L5M	ENSP00000349250:L5M	L	+	1	2	ARL4A	12694417	1.000000	0.71417	0.987000	0.45799	0.009000	0.06853	1.975000	0.40569	0.382000	0.24878	-0.181000	0.13052	CTG		0.418	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		24	242	1	0	7.38237e-10	1	9.02878e-10	24	242				
FUT1	2523	broad.mit.edu	37	19	49253959	49253959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49253959C>A	ENST00000310160.3	-	4	1554	c.580G>T	c.(580-582)Gag>Tag	p.E194*	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	194					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTCTGCGCCTCTTCCCGAAGG	0.637																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(580-582)Gag>Tag		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							107.0	110.0	109.0					19																	49253959		2201	4296	6497	SO:0001587	stop_gained	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253959C>A		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.580G>T	19.37:g.49253959C>A	ENSP00000312021:p.Glu194*						p.E194*	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1554	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	194					O14505|O14506|O14507	Nonsense_Mutation	SNP	ENST00000310160.3	37	c.580G>T	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	42	9.184441	0.99092	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	.	.	.	4.54	-0.338	0.12651	.	0.826982	0.10520	N	0.665062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.5957	6.0797	0.19935	0.0:0.5374:0.291:0.1715	.	.	.	.	X	194;184	.	ENSP00000312021:E194X	E	-	1	0	FUT1	53945771	0.006000	0.16342	0.008000	0.14137	0.295000	0.27426	0.662000	0.25038	-0.016000	0.14127	0.563000	0.77884	GAG		0.637	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		5	174	1	0	0.014758	1	0.0152625	5	174				
RPGRIP1	57096	broad.mit.edu	37	14	21793078	21793078	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21793078G>A	ENST00000400017.2	+	14	2064	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Silent_p.S47S|RPGRIP1_ENST00000206660.6_Silent_p.S688S|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000557771.1_Silent_p.S650S	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	688					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGACAGATTCGCTTTTCTTAC	0.502																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2062-2064)tcG>tcA		retinitis pigmentosa GTPase regulator interacting protein 1							174.0	164.0	167.0					14																	21793078		1991	4155	6146	SO:0001819	synonymous_variant	57096				response to stimulus|visual perception	cilium		g.chr14:21793078G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2064G>A	14.37:g.21793078G>A						RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Silent_p.S650S|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000400017.2_Silent_p.S688S|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Silent_p.S47S	p.S688S			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	2064	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	688					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	c.2064G>A	CCDS45080.1																																																																																				0.502	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		46	93	0	0	0	1	0	46	93				
VDAC3	7419	broad.mit.edu	37	8	42260974	42260974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42260974C>A	ENST00000022615.4	+	8	765	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	VDAC3_ENST00000392935.3_Missense_Mutation_p.L234I|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.L234I			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	233					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TAGAACTTCTCTCTCTGTAAG	0.398																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(700-702)Ctc>Atc		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)						186.0	165.0	172.0					8																	42260974		2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42260974C>A	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.697C>A	8.37:g.42260974C>A	ENSP00000022615:p.Leu233Ile					VDAC3_ENST00000521158.1_Missense_Mutation_p.L234I|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.L233I	p.L234I	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	843	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	233					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.700C>A	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669148	0.29604	.	.	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.47528	0.84;0.84;0.84	5.87	3.98	0.46160	.	0.196582	0.44902	D	0.000411	T	0.29389	0.0732	L	0.27053	0.805	0.46701	D	0.999163	B	0.11235	0.004	B	0.12837	0.008	T	0.07158	-1.0787	10	0.07813	T	0.8	-0.868	9.748	0.40459	0.0:0.7808:0.1415:0.0777	.	233	Q9Y277	VDAC3_HUMAN	I	234;234;233	ENSP00000442811:L234I;ENSP00000428845:L234I;ENSP00000022615:L233I	ENSP00000022615:L233I	L	+	1	0	VDAC3	42380131	0.005000	0.15991	0.997000	0.53966	0.989000	0.77384	-0.719000	0.04974	1.625000	0.50366	0.655000	0.94253	CTC		0.398	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			20	34	1	0	8.34094e-07	1	9.69005e-07	20	34				
KLK4	9622	broad.mit.edu	37	19	51412622	51412622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51412622C>T	ENST00000324041.1	-	2	109	c.110G>A	c.(109-111)tGc>tAc	p.C37Y	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	37	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGCGGGCTGCAGTCCTCGCC	0.642																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(109-111)tGc>tAc		kallikrein-related peptidase 4							132.0	145.0	141.0					19																	51412622		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412622C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.110G>A	19.37:g.51412622C>T	ENSP00000326159:p.Cys37Tyr						p.C37Y	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	109	-		all_neural(266;0.026)	37			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.110G>A	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	15.89	2.967932	0.53507	.	.	ENSG00000167749	ENST00000324041	D	0.92858	-3.12	3.96	2.93	0.34026	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43110	D	0.000618	D	0.95322	0.8482	M	0.83774	2.66	0.30431	N	0.77721	D	0.89917	1.0	D	0.97110	1.0	D	0.92044	0.5643	10	0.87932	D	0	.	9.5328	0.39205	0.0:0.8935:0.0:0.1065	.	37	Q9Y5K2	KLK4_HUMAN	Y	37	ENSP00000326159:C37Y	ENSP00000326159:C37Y	C	-	2	0	KLK4	56104434	0.991000	0.36638	0.014000	0.15608	0.012000	0.07955	2.824000	0.48088	1.013000	0.39391	0.561000	0.74099	TGC		0.642	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		12	210	0	0	0	1	0	12	210				
KCTD19	146212	broad.mit.edu	37	16	67325309	67325309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67325309C>T	ENST00000304372.5	-	14	2523	c.2468G>A	c.(2467-2469)tGt>tAt	p.C823Y		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	823					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAAGCAGTGACATTTCTGTGC	0.507																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2467-2469)tGt>tAt		potassium channel tetramerization domain containing 19							78.0	76.0	77.0					16																	67325309		1990	4180	6170	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325309C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2468G>A	16.37:g.67325309C>T	ENSP00000305702:p.Cys823Tyr						p.C823Y	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	14	2523	-		Ovarian(137;0.192)	823					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2468G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813120	0.70912	.	.	ENSG00000168676	ENST00000304372	T	0.75154	-0.91	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000010	T	0.79747	0.4499	L	0.27053	0.805	0.42745	D	0.993753	D	0.76494	0.999	D	0.83275	0.996	T	0.81944	-0.0701	10	0.87932	D	0	-10.1079	16.7784	0.85558	0.0:1.0:0.0:0.0	.	823	Q17RG1	KCD19_HUMAN	Y	823	ENSP00000305702:C823Y	ENSP00000305702:C823Y	C	-	2	0	KCTD19	65882810	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.015000	0.64035	2.753000	0.94483	0.455000	0.32223	TGT		0.507	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		12	33	0	0	0	1	0	12	33				
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000545540.1_Silent_p.S500S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1873-1875)tcC>tcA		ubiquitin specific peptidase 28							132.0	134.0	133.0					11																	113683095		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683095G>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1875C>A	11.37:g.113683095G>T						USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000544967.1_Silent_p.S333S	p.S625S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1943	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	625					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.1875C>A	CCDS31680.1																																																																																				0.418	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	100	1	0	0.184627	1	0.186383	5	100				
C2orf40	84417	broad.mit.edu	37	2	106690484	106690484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:106690484G>A	ENST00000238044.3	+	3	379	c.270G>A	c.(268-270)atG>atA	p.M90I	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Missense_Mutation_p.M54I	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	90					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						TTCTCTACATGGGCTTTGACG	0.617																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(160-162)atG>atA		chromosome 2 open reading frame 40							68.0	70.0	69.0					2																	106690484		2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106690484G>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.270G>A	2.37:g.106690484G>A	ENSP00000238044:p.Met90Ile					C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Missense_Mutation_p.M90I	p.M54I			Q9H1Z8	AUGN_HUMAN			4	393	+			90					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.162G>A	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310709	0.60414	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.46451	0.87;0.87;0.87	5.62	5.62	0.85841	.	0.187413	0.53938	D	0.000051	T	0.43964	0.1271	M	0.65498	2.005	0.49687	D	0.999819	B	0.29988	0.264	B	0.27170	0.077	T	0.36720	-0.9736	10	0.45353	T	0.12	-16.2332	15.9976	0.80262	0.0:0.0:0.8651:0.1349	.	90	Q9H1Z8	AUGN_HUMAN	I	54;90;92	ENSP00000386421:M54I;ENSP00000238044:M90I;ENSP00000388664:M92I	ENSP00000238044:M90I	M	+	3	0	C2orf40	106056916	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.228000	0.72288	2.633000	0.89246	0.655000	0.94253	ATG		0.617	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		17	53	0	0	0	1	0	17	53				
CBLC	23624	broad.mit.edu	37	19	45296783	45296783	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45296783A>T	ENST00000270279.3	+	8	1253	c.1190A>T	c.(1189-1191)gAg>gTg	p.E397V	CBLC_ENST00000341505.4_Missense_Mutation_p.E351V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	397	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AAGGGCTGGGAGGCCGTGAGT	0.637			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1189-1191)gAg>gTg		Cbl proto-oncogene C, E3 ubiquitin protein ligase							47.0	41.0	43.0					19																	45296783		2203	4300	6503	SO:0001583	missense	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45296783A>T	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1190A>T	19.37:g.45296783A>T	ENSP00000270279:p.Glu397Val					CBLC_ENST00000341505.4_Missense_Mutation_p.E351V	p.E397V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			8	1253	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	397					Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	c.1190A>T	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.947801	0.73787	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.95482	-3.72;-3.72	4.52	4.52	0.55395	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.44097	D	0.000493	D	0.95781	0.8627	L	0.36672	1.1	0.54753	D	0.999982	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	D	0.95859	0.8881	10	0.66056	D	0.02	-29.1405	12.1158	0.53863	1.0:0.0:0.0:0.0	.	351;397	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	V	397;351	ENSP00000270279:E397V;ENSP00000340250:E351V	ENSP00000270279:E397V	E	+	2	0	CBLC	49988623	1.000000	0.71417	0.699000	0.30290	0.101000	0.19017	5.140000	0.64807	2.038000	0.60285	0.454000	0.30748	GAG		0.637	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		7	11	0	0	0	1	0	7	11				
DRD5	1816	broad.mit.edu	37	4	9784208	9784208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:9784208G>A	ENST00000304374.2	+	1	951	c.555G>A	c.(553-555)gcG>gcA	p.A185A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	185					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGGACCAGGCGGCCTCTTGGG	0.612																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(553-555)gcG>gcA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						38.0	38.0	38.0					4																	9784208		2202	4298	6500	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784208G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.555G>A	4.37:g.9784208G>A							p.A185A	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	951	+			185					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.555G>A	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			15	38	0	0	0	1	0	15	38				
CMTM4	146223	broad.mit.edu	37	16	66657318	66657318	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66657318T>G	ENST00000330687.4	-	3	632	c.451A>C	c.(451-453)Att>Ctt	p.I151L	CMTM4_ENST00000563952.1_Missense_Mutation_p.I122L|CMTM4_ENST00000394106.2_Missense_Mutation_p.I151L	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	151	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ACGGCAGCAATTTCTGCTCCG	0.507																																						ENST00000330687.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9						c.(451-453)Att>Ctt		CKLF-like MARVEL transmembrane domain containing 4							81.0	70.0	74.0					16																	66657318		2201	4300	6501	SO:0001583	missense	146223				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66657318T>G	AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.451A>C	16.37:g.66657318T>G	ENSP00000333833:p.Ile151Leu					CMTM4_ENST00000394106.2_Missense_Mutation_p.I151L|CMTM4_ENST00000563952.1_Missense_Mutation_p.I122L	p.I151L	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)	3	632	-		Ovarian(137;0.0563)	151			MARVEL.		Q52M40|Q8IZR4|Q8IZV1	Missense_Mutation	SNP	ENST00000330687.4	37	c.451A>C	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594107	0.66219	.	.	ENSG00000183723	ENST00000330687;ENST00000394106	T;T	0.25414	1.8;1.8	5.88	4.79	0.61399	Marvel (1);MARVEL-like domain (1);	0.179107	0.52532	D	0.000076	T	0.45736	0.1357	M	0.63843	1.955	0.58432	D	0.999992	D	0.63880	0.993	D	0.76071	0.987	T	0.30060	-0.9991	10	0.41790	T	0.15	-19.829	11.4766	0.50302	0.0:0.0707:0.0:0.9293	.	151	Q8IZR5	CKLF4_HUMAN	L	151	ENSP00000333833:I151L;ENSP00000377666:I151L	ENSP00000333833:I151L	I	-	1	0	CMTM4	65214819	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	6.217000	0.72218	1.043000	0.40175	0.528000	0.53228	ATT		0.507	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1			14	37	0	0	0	1	0	14	37				
ARSE	415	broad.mit.edu	37	X	2867535	2867535	+	Missense_Mutation	SNP	C	C	T	rs150444751		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2867535C>T	ENST00000381134.3	-	6	730	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	ARSE_ENST00000545496.1_Missense_Mutation_p.V247I|ARSE_ENST00000540563.1_Missense_Mutation_p.V177I	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	222					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCACGAGACGGGTATCAGG	0.547													c|||	3	0.000794702	0.0008	0.0	3775	,	,		15180	0.001		0.0	False		,,,				2504	0.001					ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(739-741)Gtc>Atc		arylsulfatase E (chondrodysplasia punctata 1)			ILE/VAL	1,3834		0,1,1631,571	147.0	109.0	122.0		664	0.7	0.0	X	dbSNP_134	122	0,6728		0,0,2428,1872	no	missense	ARSE	NM_000047.2	29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	222/590	2867535	1,10562	2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867535C>T	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.664G>A	X.37:g.2867535C>T	ENSP00000370526:p.Val222Ile					ARSE_ENST00000381134.3_Missense_Mutation_p.V222I|ARSE_ENST00000540563.1_Missense_Mutation_p.V177I	p.V247I			P51690	ARSE_HUMAN			7	1030	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	222					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.739G>A	CCDS14122.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	3.046	-0.196343	0.06259	2.61E-4	0.0	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.93763	-3.28;-3.28;-3.28	3.56	0.672	0.17935	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.457990	0.20282	U	0.095436	T	0.81866	0.4913	N	0.16233	0.39	0.09310	N	1	B;B;B	0.15141	0.012;0.009;0.002	B;B;B	0.13407	0.009;0.006;0.004	T	0.65356	-0.6188	10	0.09338	T	0.73	.	4.3311	0.11064	0.0:0.5041:0.1795:0.3164	.	177;247;222	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	I	177;247;222	ENSP00000438198:V177I;ENSP00000441417:V247I;ENSP00000370526:V222I	ENSP00000370526:V222I	V	-	1	0	ARSE	2877535	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.340000	0.19892	-0.354000	0.08212	-1.187000	0.01702	GTC		0.547	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		17	18	0	0	0	1	0	17	18				
PGR	5241	broad.mit.edu	37	11	100909896	100909896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100909896G>A	ENST00000325455.5	-	8	4206	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	PGR_ENST00000263463.5_Missense_Mutation_p.P816L|PGR_ENST00000534013.1_Missense_Mutation_p.P324L	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	918	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CAATATCTTGGGTAATTGTGC	0.353																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2752-2754)cCc>cTc		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						95.0	94.0	94.0					11																	100909896		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100909896G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2753C>T	11.37:g.100909896G>A	ENSP00000325120:p.Pro918Leu					PGR_ENST00000263463.5_Missense_Mutation_p.P816L|PGR_ENST00000534013.1_Missense_Mutation_p.P324L	p.P918L	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	8	4206	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	918			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2753C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784871	0.90282	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	D;D;D	0.99789	-2.92;-3.21;-6.75	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97214	0.9873	10	0.87932	D	0	.	19.9087	0.97016	0.0:0.0:1.0:0.0	.	816;918;299	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	L	918;324;816	ENSP00000325120:P918L;ENSP00000436561:P324L;ENSP00000263463:P816L	ENSP00000263463:P816L	P	-	2	0	PGR	100415106	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.278000	0.95766	2.704000	0.92352	0.580000	0.79431	CCC		0.353	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			21	59	0	0	0	1	0	21	59				
N4BP2	55728	broad.mit.edu	37	4	40108548	40108548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40108548G>A	ENST00000261435.6	+	5	1818	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	468					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCAAGTGGAGTCATTCTTAG	0.318																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1402-1404)Gtc>Atc		NEDD4 binding protein 2							78.0	84.0	82.0					4																	40108548		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40108548G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1402G>A	4.37:g.40108548G>A	ENSP00000261435:p.Val468Ile						p.V468I	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			5	1818	+			468					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1402G>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.59|12.59	1.984206|1.984206	0.35036|0.35036	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.50813	.|0.73	5.5|5.5	-0.483|-0.483	0.12075|0.12075	.|.	.|0.268892	.|0.35677	.|N	.|0.003048	T|T	0.26774|0.26774	0.0655|0.0655	N|N	0.20766|0.20766	0.605|0.605	0.32157|0.32157	N|N	0.583482|0.583482	.|B;B	.|0.21309	.|0.054;0.011	.|B;B	.|0.20577	.|0.026;0.03	T|T	0.14643|0.14643	-1.0465|-1.0465	5|10	.|0.30078	.|T	.|0.28	-0.8999|-0.8999	7.8874|7.8874	0.29659|0.29659	0.4865:0.1087:0.4048:0.0|0.4865:0.1087:0.4048:0.0	.|.	.|468;468	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	N|I	114|468;388	.|ENSP00000261435:V468I	.|ENSP00000261435:V468I	S|V	+|+	2|1	0|0	N4BP2|N4BP2	39784943|39784943	0.578000|0.578000	0.26717|0.26717	0.607000|0.607000	0.28956|0.28956	0.997000|0.997000	0.91878|0.91878	-0.110000|-0.110000	0.10824|0.10824	-0.113000|-0.113000	0.11958|0.11958	0.591000|0.591000	0.81541|0.81541	AGT|GTC		0.318	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		18	38	0	0	0	1	0	18	38				
MMP19	4327	broad.mit.edu	37	12	56231369	56231369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56231369C>T	ENST00000322569.4	-	8	1249	c.1158G>A	c.(1156-1158)tgG>tgA	p.W386*	TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Nonsense_Mutation_p.W363*|MMP19_ENST00000394182.1_Nonsense_Mutation_p.W100*	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	386					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GGTTGAGAGGCCAATAGAGAG	0.463																																						ENST00000394182.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(298-300)tgG>tgA		matrix metallopeptidase 19							112.0	112.0	112.0					12																	56231369		2203	4300	6503	SO:0001587	stop_gained	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56231369C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1158G>A	12.37:g.56231369C>T	ENSP00000313437:p.Trp386*					MMP19_ENST00000548629.1_Nonsense_Mutation_p.W363*|MMP19_ENST00000322569.4_Nonsense_Mutation_p.W386*|MMP19_ENST00000409200.3_Intron	p.W100*			Q99542	MMP19_HUMAN			3	299	-			386					B4E030|O15278|O95606|Q99580	Nonsense_Mutation	SNP	ENST00000322569.4	37	c.300G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	36	5.915371	0.97099	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	.	.	.	5.81	5.81	0.92471	.	0.305927	0.36591	N	0.002506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5764	0.87950	0.0:1.0:0.0:0.0	.	.	.	.	X	100;386;363	.	ENSP00000313437:W386X	W	-	3	0	MMP19	54517636	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.336000	0.43938	2.746000	0.94184	0.655000	0.94253	TGG		0.463	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		17	44	0	0	0	1	0	17	44				
CNOT1	23019	broad.mit.edu	37	16	58614634	58614634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58614634G>A	ENST00000317147.5	-	12	1578	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P416S|CNOT1_ENST00000441024.2_Missense_Mutation_p.P416S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	416					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGATCTCTGGATTTATAAGG	0.378																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1246-1248)Cca>Tca		CCR4-NOT transcription complex, subunit 1							95.0	89.0	91.0					16																	58614634		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58614634G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1246C>T	16.37:g.58614634G>A	ENSP00000320949:p.Pro416Ser					CNOT1_ENST00000569240.1_Missense_Mutation_p.P416S|CNOT1_ENST00000441024.2_Missense_Mutation_p.P416S	p.P416S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	12	1578	-			416					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1246C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950916	0.73787	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.55760	0.61;0.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	L	0.45470	1.425	0.80722	D	1	D;P;P	0.67145	0.996;0.911;0.734	D;B;B	0.78314	0.991;0.311;0.187	T	0.63821	-0.6550	9	.	.	.	0.2415	19.4048	0.94643	0.0:0.0:1.0:0.0	.	416;416;416	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	416	ENSP00000320949:P416S;ENSP00000413113:P416S	.	P	-	1	0	CNOT1	57172135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.575000	0.86900	0.655000	0.94253	CCA		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		24	34	0	0	0	1	0	24	34				
TSPAN17	26262	broad.mit.edu	37	5	176084699	176084699	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084699G>T	ENST00000503045.1	+	9	985	c.930G>T	c.(928-930)taG>taT	p.*310Y	TSPAN17_ENST00000508164.1_Nonstop_Mutation_p.*330Y|TSPAN17_ENST00000310032.8_Nonstop_Mutation_p.*333Y|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000405525.2_3'UTR			Q96FV3	TSN17_HUMAN	tetraspanin 17	0					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			aaaattggtagatttcacata	0.542																																						ENST00000310032.8																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(997-999)taG>taT		tetraspanin 17							35.0	42.0	40.0					5																	176084699		2203	4300	6503	SO:0001578	stop_lost	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176084699G>T	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.930G>T	5.37:g.176084699G>T	ENSP00000425212:p.*310Tyrext*?					TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Nonstop_Mutation_p.*330Y|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Nonstop_Mutation_p.*310Y	p.*333Y	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1228	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	0					Q6NXF7|Q96S98|Q9UKB9	Nonstop_Mutation	SNP	ENST00000503045.1	37	c.999G>T		.	.	.	.	.	.	.	.	.	.	G	12.02	1.813698	0.32053	.	.	ENSG00000048140	ENST00000310032;ENST00000508164;ENST00000503045	.	.	.	3.42	-0.487	0.12060	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7826	0.01043	0.1904:0.1215:0.2198:0.4683	.	.	.	.	Y	333;330;310	.	.	X	+	3	2	TSPAN17	176017305	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	0.103000	0.15292	-0.077000	0.12752	-0.500000	0.04577	TAG		0.542	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			18	35	1	0	3.51602e-12	1	4.4132e-12	18	35				
SLC20A2	6575	broad.mit.edu	37	8	42329808	42329808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329808C>T	ENST00000342228.3	-	2	470	c.101G>A	c.(100-102)gGt>gAt	p.G34D	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G34D|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G34D	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	34					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACGGCTGTACCAAAGGAGTT	0.478																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(100-102)gGt>gAt		solute carrier family 20 (phosphate transporter), member 2							141.0	126.0	131.0					8																	42329808		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42329808C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.101G>A	8.37:g.42329808C>T	ENSP00000340465:p.Gly34Asp					SLC20A2_ENST00000520262.1_Missense_Mutation_p.G34D|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G34D	p.G34D	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	470	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	34						Missense_Mutation	SNP	ENST00000342228.3	37	c.101G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757412	0.69648	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179;ENST00000518717;ENST00000517366;ENST00000522707	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.84	5.84	0.93424	.	0.046322	0.85682	D	0.000000	D	0.97312	0.9121	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98010	1.0365	10	0.87932	D	0	-16.0929	17.6287	0.88100	0.0:1.0:0.0:0.0	.	34	Q08357	S20A2_HUMAN	D	34	ENSP00000340465:G34D;ENSP00000429754:G34D;ENSP00000429712:G34D;ENSP00000430166:G34D;ENSP00000427756:G34D;ENSP00000429299:G34D	ENSP00000340465:G34D	G	-	2	0	SLC20A2	42448965	1.000000	0.71417	0.422000	0.26621	0.305000	0.27757	7.818000	0.86416	2.763000	0.94921	0.591000	0.81541	GGT		0.478	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			57	97	0	0	0	1	0	57	97				
LPHN1	22859	broad.mit.edu	37	19	14263606	14263606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14263606G>A	ENST00000340736.6	-	20	3725	c.3428C>T	c.(3427-3429)aCa>aTa	p.T1143I	LPHN1_ENST00000361434.3_Missense_Mutation_p.T1138I|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1143					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGTCCCTGTGTAGTAGCG	0.622																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3427-3429)aCa>aTa		latrophilin 1							140.0	121.0	127.0					19																	14263606		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14263606G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3428C>T	19.37:g.14263606G>A	ENSP00000340688:p.Thr1143Ile					LPHN1_ENST00000361434.3_Missense_Mutation_p.T1138I|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.T1143I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			20	3725	-			1143					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3428C>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476421	0.84640	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.71222	-0.55;-0.55	5.26	5.26	0.73747	GPCR, family 2, latrophilin, C-terminal (1);	0.057830	0.64402	D	0.000002	T	0.77738	0.4175	L	0.50333	1.59	0.45139	D	0.998158	P;D	0.56968	0.69;0.978	P;P	0.59825	0.69;0.864	T	0.76421	-0.2965	10	0.38643	T	0.18	.	16.355	0.83232	0.0:0.0:1.0:0.0	.	1138;1143	O94910-2;O94910	.;LPHN1_HUMAN	I	1143;1138	ENSP00000340688:T1143I;ENSP00000355328:T1138I	ENSP00000340688:T1143I	T	-	2	0	LPHN1	14124606	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	4.173000	0.58249	2.460000	0.83146	0.561000	0.74099	ACA		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		25	42	0	0	0	1	0	25	42				
PAPPA	5069	broad.mit.edu	37	9	119093569	119093569	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119093569A>C	ENST00000328252.3	+	11	3563	c.3194A>C	c.(3193-3195)cAt>cCt	p.H1065P	PAPPA_ENST00000534838.1_Missense_Mutation_p.H103P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1065					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTTCCCAGCATGCCTGGTAC	0.453																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3193-3195)cAt>cCt		pregnancy-associated plasma protein A, pappalysin 1							121.0	108.0	113.0					9																	119093569		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119093569A>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3194A>C	9.37:g.119093569A>C	ENSP00000330658:p.His1065Pro					PAPPA_ENST00000534838.1_Missense_Mutation_p.H103P	p.H1065P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			11	3563	+			1065					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3194A>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869946	0.51588	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.03635	4.65;3.86	6.06	6.06	0.98353	.	0.098059	0.64402	D	0.000001	T	0.04003	0.0112	N	0.11427	0.14	0.46798	D	0.999203	D;P	0.59767	0.986;0.867	P;B	0.48030	0.564;0.24	T	0.62632	-0.6813	10	0.34782	T	0.22	-20.4514	15.1804	0.72952	1.0:0.0:0.0:0.0	.	103;1065	F5GZ19;Q13219	.;PAPP1_HUMAN	P	1065;103	ENSP00000330658:H1065P;ENSP00000441461:H103P	ENSP00000330658:H1065P	H	+	2	0	PAPPA	118133390	1.000000	0.71417	0.958000	0.39756	0.931000	0.56810	7.643000	0.83403	2.324000	0.78689	0.533000	0.62120	CAT		0.453	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		5	55	0	0	0	1	0	5	55				
SND1	27044	broad.mit.edu	37	7	127569379	127569379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127569379G>A	ENST00000354725.3	+	15	1860	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	556	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTTCTTGCTTGCAGGTAAGTC	0.483																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1666-1668)Gca>Aca		staphylococcal nuclease and tudor domain containing 1							265.0	242.0	250.0					7																	127569379		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127569379G>A		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1666G>A	7.37:g.127569379G>A	ENSP00000346762:p.Ala556Thr						p.A556T	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			15	1860	+			556			TNase-like 4.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.1666G>A	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551268	0.96501	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.35048	1.33;1.33	5.11	5.11	0.69529	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.370891	0.32314	N	0.006268	T	0.64527	0.2606	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.69506	-0.5127	10	0.59425	D	0.04	-13.019	16.3747	0.83381	0.0:0.0:1.0:0.0	.	556	Q7KZF4	SND1_HUMAN	T	556;546;105	ENSP00000346762:A556T;ENSP00000419327:A105T	ENSP00000346762:A556T	A	+	1	0	SND1	127356615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.181000	0.94874	2.542000	0.85734	0.561000	0.74099	GCA		0.483	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		111	107	0	0	0	1	0	111	107				
MINPP1	9562	broad.mit.edu	37	10	89272941	89272941	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89272941C>A	ENST00000371996.4	+	3	937	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.S98Y	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	299					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GGTGTTAAATCTCCTTGGTGT	0.313																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(895-897)tCt>tAt		multiple inositol-polyphosphate phosphatase 1							119.0	116.0	117.0					10																	89272941		2203	4300	6503	SO:0001583	missense	0				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89272941C>A	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.896C>A	10.37:g.89272941C>A	ENSP00000361064:p.Ser299Tyr					MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.S98Y	p.S299Y	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	3	937	+		Colorectal(252;0.122)	299					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.896C>A	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740210	0.69304	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.38887	1.11;1.11	5.54	3.68	0.42216	.	0.096182	0.85682	D	0.000000	T	0.64327	0.2588	M	0.84326	2.69	0.54753	D	0.999987	D	0.65815	0.995	D	0.75484	0.986	T	0.69117	-0.5230	10	0.87932	D	0	-6.6114	10.9103	0.47106	0.0:0.8484:0.0:0.1516	.	299	Q9UNW1	MINP1_HUMAN	Y	299;158;98	ENSP00000361064:S299Y;ENSP00000437823:S98Y	ENSP00000361064:S299Y	S	+	2	0	MINPP1	89262921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.281000	0.65609	1.336000	0.45506	0.655000	0.94253	TCT		0.313	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			6	64	1	0	0.000274275	1	0.000298791	6	64				
LIPH	200879	broad.mit.edu	37	3	185236961	185236961	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185236961G>A	ENST00000296252.4	-	6	996	c.855C>T	c.(853-855)ggC>ggT	p.G285G	LIPH_ENST00000424591.2_Silent_p.G251G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	285					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTTGTGACGTGCCGCAGCTGA	0.478																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(853-855)ggC>ggT		lipase, member H							136.0	135.0	135.0					3																	185236961		2203	4300	6503	SO:0001819	synonymous_variant	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185236961G>A	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.855C>T	3.37:g.185236961G>A						LIPH_ENST00000424591.2_Silent_p.G251G	p.G285G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		6	996	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		285					A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	37	c.855C>T	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	G	2.770	-0.255894	0.05829	.	.	ENSG00000163898	ENST00000452897	.	.	.	5.01	-0.539	0.11865	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	-10.8436	2.3211	0.04211	0.252:0.1053:0.4859:0.1568	.	.	.	.	V	76	.	.	A	-	2	0	LIPH	186719655	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.526000	0.06207	0.036000	0.15547	-1.572000	0.00871	GCA		0.478	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			10	83	0	0	0	1	0	10	83				
SPEG	10290	broad.mit.edu	37	2	220338574	220338574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220338574G>A	ENST00000312358.7	+	18	4528	c.4396G>A	c.(4396-4398)Gcc>Acc	p.A1466T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1466	Ig-like 7.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCTGCACCGCCCGAAACCG	0.647																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4396-4398)Gcc>Acc		SPEG complex locus							57.0	67.0	64.0					2																	220338574		2056	4185	6241	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220338574G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4396G>A	2.37:g.220338574G>A	ENSP00000311684:p.Ala1466Thr					SPEG_ENST00000485813.1_3'UTR	p.A1466T	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	18	4528	+		Renal(207;0.0183)	1466			Ig-like 7.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.4396G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435948	0.83885	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.76448	-1.02	4.77	4.77	0.60923	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000815	D	0.82651	0.5083	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.84916	0.0851	10	0.72032	D	0.01	.	17.9928	0.89174	0.0:0.0:1.0:0.0	.	1466	Q15772	SPEG_HUMAN	T	1466	ENSP00000311684:A1466T	ENSP00000265327:A1466T	A	+	1	0	SPEG	220046818	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	5.828000	0.69307	2.478000	0.83669	0.561000	0.74099	GCC		0.647	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		8	87	0	0	0	1	0	8	87				
TCEB3	6924	broad.mit.edu	37	1	24078310	24078310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24078310G>A	ENST00000418390.2	+	4	1564	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TCEB3_ENST00000609199.1_Missense_Mutation_p.M405I	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	431					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCCAACCATGTCTTTTGAAT	0.428											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1291-1293)atG>atA		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							116.0	134.0	128.0					1																	24078310		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078310G>A	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1293G>A	1.37:g.24078310G>A	ENSP00000395574:p.Met431Ile		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.M431I	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1564	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	431					B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.1293G>A	CCDS239.2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680581	0.47886	.	.	ENSG00000011007	ENST00000418390	T	0.14391	2.51	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.00353	-1.1795	10	0.33141	T	0.24	-11.5722	20.422	0.99049	0.0:0.0:1.0:0.0	.	431	Q14241	ELOA1_HUMAN	I	431	ENSP00000395574:M431I	ENSP00000395574:M431I	M	+	3	0	TCEB3	23950897	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	9.726000	0.98782	2.832000	0.97577	0.655000	0.94253	ATG		0.428	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		96	161	0	0	0	1	0	96	161				
TLR3	7098	broad.mit.edu	37	4	187004232	187004232	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004232C>A	ENST00000296795.3	+	4	1496	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	TLR3_ENST00000504367.1_Silent_p.S187S	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	464					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTATCTTTCCTACAACAAGT	0.468																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1390-1392)tcC>tcA		toll-like receptor 3							66.0	66.0	66.0					4																	187004232		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004232C>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1392C>A	4.37:g.187004232C>A						TLR3_ENST00000504367.1_Silent_p.S187S	p.S464S	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1496	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	464					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1392C>A	CCDS3846.1																																																																																				0.468	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			36	52	1	0	7.04047e-22	1	9.28103e-22	36	52				
PCDHGB2	56103	broad.mit.edu	37	5	140741305	140741305	+	Missense_Mutation	SNP	C	C	T	rs1860251		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140741305C>T	ENST00000522605.1	+	1	1603	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	535	Cadherin 5. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCAGGCCCGCGACCAGGG	0.677																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1603-1605)Cgc>Tgc									26.0	31.0	30.0					5																	140741305		2045	4191	6236	SO:0001583	missense	0							g.chr5:140741305C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1603C>T	5.37:g.140741305C>T	ENSP00000429018:p.Arg535Cys					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.R535C	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1603	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1603C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	3.325	-0.137845	0.06711	.	.	ENSG00000253910	ENST00000522605	T	0.01787	4.64	5.01	3.23	0.37069	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.03520	0.0101	L	0.48877	1.53	0.23120	N	0.998263	P;P	0.45672	0.695;0.864	B;P	0.44696	0.246;0.458	T	0.34477	-0.9827	9	0.54805	T	0.06	.	15.1545	0.72730	0.2587:0.7413:0.0:0.0	.	535;535	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	C	535	ENSP00000429018:R535C	ENSP00000429018:R535C	R	+	1	0	PCDHGB2	140721489	0.000000	0.05858	0.311000	0.25182	0.003000	0.03518	-2.836000	0.00740	0.612000	0.30071	-2.283000	0.00269	CGC		0.677	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		3	43	0	0	0	1	0	3	43				
ABCC5	10057	broad.mit.edu	37	3	183683285	183683285	+	Missense_Mutation	SNP	G	G	A	rs371992489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183683285G>A	ENST00000334444.6	-	13	2078	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	ABCC5_ENST00000265586.6_Missense_Mutation_p.T613M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	613	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTCTAGAAGCGTCATCTAGGG	0.512																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1837-1839)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		G	MET/THR	1,4005		0,1,2002	95.0	93.0	93.0		1838	5.4	1.0	3		93	0,8334		0,0,4167	no	missense	ABCC5	NM_005688.2	81	0,1,6169	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	613/1438	183683285	1,12339	2003	4167	6170	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183683285G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1838C>T	3.37:g.183683285G>A	ENSP00000333926:p.Thr613Met					ABCC5_ENST00000265586.6_Missense_Mutation_p.T613M	p.T613M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		13	2078	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		613			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1838C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942345	0.73672	2.5E-4	0.0	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.90676	-2.71;-2.71	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.72075	0.93;0.976	D	0.93505	0.6848	10	0.34782	T	0.22	-9.3186	19.2454	0.93901	0.0:0.0:1.0:0.0	.	613;613	Q86UX3;O15440	.;MRP5_HUMAN	M	613;549;613	ENSP00000333926:T613M;ENSP00000265586:T613M	ENSP00000265586:T613M	T	-	2	0	ABCC5	185165979	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.262000	0.72514	2.527000	0.85204	0.655000	0.94253	ACG		0.512	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		12	42	0	0	0	1	0	12	42				
XIST	7503	broad.mit.edu	37	X	73066030	73066030	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73066030C>A	ENST00000429829.1	-	0	6558					NR_001564.2				X inactive specific transcript (non-protein coding)																		GAAAAAGGGCCTTGGTGATCA	0.493																																						ENST00000429829.1																			0																				142.0	130.0	134.0					X																	73066030		876	1991	2867			0							g.chrX:73066030C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066030C>A								NR_001564.2						0	6558	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.493	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		5	95	1	0	0.000602214	1	0.000649039	5	95				
EPDR1	54749	broad.mit.edu	37	7	37960397	37960397	+	5'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37960397G>A	ENST00000199448.4	+	0	235				EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Silent_p.R72R|EPDR1_ENST00000423717.1_5'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCGGCAGAGGCCACCGAAGG	0.677																																						ENST00000559325.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(214-216)agG>agA		ependymin related 1							25.0	35.0	31.0					7																	37960397		2203	4298	6501	SO:0001623	5_prime_UTR_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960397G>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-145G>A	7.37:g.37960397G>A						EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000199448.4_5'UTR	p.R72R			Q9UM22	EPDR1_HUMAN			1	235	+			0					A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	c.216G>A	CCDS5454.2																																																																																				0.677	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		25	22	0	0	0	1	0	25	22				
USP53	54532	broad.mit.edu	37	4	120177653	120177653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120177653C>T	ENST00000274030.6	+	9	1723	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP53_ENST00000450251.1_Missense_Mutation_p.R182W	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGAATTTGTGCGGTACATTTC	0.313																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(544-546)Cgg>Tgg		ubiquitin specific peptidase 53							153.0	146.0	148.0					4																	120177653		1869	4106	5975	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120177653C>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.544C>T	4.37:g.120177653C>T	ENSP00000274030:p.Arg182Trp					USP53_ENST00000274030.6_Missense_Mutation_p.R182W	p.R182W			Q70EK8	UBP53_HUMAN			5	1088	+			182						Missense_Mutation	SNP	ENST00000274030.6	37	c.544C>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529470	0.85706	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.05319	3.46;3.46	5.6	4.75	0.60458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.188259	0.46442	D	0.000294	T	0.16811	0.0404	L	0.36672	1.1	0.42787	D	0.993881	D	0.89917	1.0	D	0.81914	0.995	T	0.01935	-1.1244	10	0.40728	T	0.16	-11.3821	16.0993	0.81158	0.1345:0.8655:0.0:0.0	.	182	Q70EK8	UBP53_HUMAN	W	182	ENSP00000274030:R182W;ENSP00000409906:R182W	ENSP00000274030:R182W	R	+	1	2	USP53	120397101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.172000	0.50832	1.335000	0.45486	0.563000	0.77884	CGG		0.313	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		28	65	0	0	0	1	0	28	65				
AK5	26289	broad.mit.edu	37	1	77759556	77759556	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77759556A>G	ENST00000354567.2	+	3	589	c.326A>G	c.(325-327)gAc>gGc	p.D109G	AK5_ENST00000344720.5_Missense_Mutation_p.D83G|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	109					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATAGAAAGTGACACGGATCTC	0.423																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(247-249)gAc>gGc		adenylate kinase 5							71.0	72.0	72.0					1																	77759556		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77759556A>G	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.326A>G	1.37:g.77759556A>G	ENSP00000346577:p.Asp109Gly					AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.D109G	p.D83G	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			3	1274	+			109					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.248A>G	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787258	0.90367	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84223	-0.86;-0.87;-1.82	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.85375	0.5682	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.989	D	0.86640	0.1891	10	0.46703	T	0.11	-34.6536	15.2336	0.73411	1.0:0.0:0.0:0.0	.	109;85	Q9Y6K8;Q8N291	KAD5_HUMAN;.	G	109;83;83	ENSP00000346577:D109G;ENSP00000341430:D83G;ENSP00000434409:D83G	ENSP00000341430:D83G	D	+	2	0	AK5	77532144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.075000	0.62263	0.459000	0.35465	GAC		0.423	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		25	54	0	0	0	1	0	25	54				
CLASP2	23122	broad.mit.edu	37	3	33663726	33663726	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33663726T>C	ENST00000468888.2	-	11	1131	c.1085A>G	c.(1084-1086)gAt>gGt	p.D362G	CLASP2_ENST00000313350.6_Missense_Mutation_p.D134G|CLASP2_ENST00000539981.1_Missense_Mutation_p.D113G|CLASP2_ENST00000359576.5_Missense_Mutation_p.D361G|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.D128G|CLASP2_ENST00000487200.1_Missense_Mutation_p.D134G|CLASP2_ENST00000480013.1_Missense_Mutation_p.D128G|CLASP2_ENST00000399362.4_Missense_Mutation_p.D361G|CLASP2_ENST00000333778.6_Missense_Mutation_p.D138G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	128	Ser-rich.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AAAAAAGCAATCATACTGTGC	0.368																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1081-1083)gAt>gGt		cytoplasmic linker associated protein 2							79.0	73.0	75.0					3																	33663726		1870	4100	5970	SO:0001583	missense	23122							g.chr3:33663726T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1085A>G	3.37:g.33663726T>C	ENSP00000419974:p.Asp362Gly					CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.D128G|CLASP2_ENST00000333778.6_Missense_Mutation_p.D138G|CLASP2_ENST00000487200.1_Missense_Mutation_p.D134G|CLASP2_ENST00000313350.6_Missense_Mutation_p.D134G|CLASP2_ENST00000539981.1_Missense_Mutation_p.D113G|CLASP2_ENST00000468888.2_Missense_Mutation_p.D362G|CLASP2_ENST00000480013.1_Missense_Mutation_p.D128G|CLASP2_ENST00000359576.5_Missense_Mutation_p.D361G|CLASP2_ENST00000482896.1_5'UTR	p.D361G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			11	1435	-			362					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.1082A>G		.	.	.	.	.	.	.	.	.	.	T	31	5.096950	0.94197	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778;ENST00000485378;ENST00000496954	T;T;T;T;T;T;T;T;T;T;T	0.68331	0.96;0.96;0.96;-0.32;0.96;-0.32;1.38;1.38;1.38;0.96;0.96	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.80422	2.495	0.80722	D	1	B;D;P;D	0.71674	0.443;0.998;0.935;0.998	P;D;P;D	0.81914	0.525;0.986;0.796;0.995	D	0.85192	0.1010	10	0.87932	D	0	-21.0533	16.1805	0.81895	0.0:0.0:0.0:1.0	.	138;134;134;361	E7ENG2;B3KR06;O75122-2;F5H604	.;.;.;.	G	362;361;361;113;128;128;134;134;138;134;129	ENSP00000419974:D362G;ENSP00000382297:D361G;ENSP00000352581:D361G;ENSP00000439039:D113G;ENSP00000417518:D128G;ENSP00000419305:D128G;ENSP00000324364:D134G;ENSP00000418939:D134G;ENSP00000327760:D138G;ENSP00000418945:D134G;ENSP00000418411:D129G	ENSP00000324364:D134G	D	-	2	0	CLASP2	33638730	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.990000	0.88215	2.229000	0.72834	0.524000	0.50904	GAT		0.368	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		3	41	0	0	0	1	0	3	41				
PLXNB1	5364	broad.mit.edu	37	3	48465435	48465435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48465435C>A	ENST00000358536.4	-	3	855	c.586G>T	c.(586-588)Gct>Tct	p.A196S	PLXNB1_ENST00000296440.6_Missense_Mutation_p.A196S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A196S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A196S|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	196	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGAAGGCAGCTTGGGGGTCG	0.662																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(586-588)Gct>Tct		plexin B1							12.0	15.0	14.0					3																	48465435		2201	4299	6500	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48465435C>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.586G>T	3.37:g.48465435C>A	ENSP00000351338:p.Ala196Ser					PLXNB1_ENST00000358459.4_Missense_Mutation_p.A196S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A196S|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A196S	p.A196S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	855	-			196			Sema.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.586G>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	3.589	-0.083924	0.07141	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.41	1.15	0.20763	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	5.367210	0.00839	N	0.001720	T	0.06645	0.0170	N	0.05510	-0.035	0.80722	D	1	B;B	0.24576	0.0;0.106	B;B	0.32149	0.002;0.141	T	0.42599	-0.9442	10	0.09338	T	0.73	.	5.7072	0.17915	0.5533:0.3388:0.0:0.1079	.	196;196	O43157;O43157-2	PLXB1_HUMAN;.	S	196	ENSP00000296440:A196S;ENSP00000351242:A196S;ENSP00000351338:A196S;ENSP00000414199:A196S	ENSP00000296440:A196S	A	-	1	0	PLXNB1	48440439	1.000000	0.71417	0.771000	0.31576	0.527000	0.34593	1.441000	0.35035	0.240000	0.21263	0.591000	0.81541	GCT		0.662	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		4	5	1	0	0.00024832	1	0.0002712	4	5				
WRB	7485	broad.mit.edu	37	21	40765207	40765207	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40765207G>A	ENST00000333781.5	+	4	592		c.e4+1		WRB_ENST00000398753.1_Splice_Site|WRB_ENST00000466787.1_Splice_Site|WRB_ENST00000380708.1_Splice_Site|WRB_ENST00000541890.1_Splice_Site	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(3)	3		Prostate(19;1.2e-06)				AGAGTAGCAGGTAAGAATTTT	0.463																																						ENST00000333781.5																			0				endometrium(3)	3						c.e4+1		tryptophan rich basic protein							71.0	66.0	68.0					21																	40765207		2203	4300	6503	SO:0001630	splice_region_variant	7485					integral to membrane|nucleolus		g.chr21:40765207G>A		CCDS13664.1, CCDS54485.1	21q22.3	2007-10-04			ENSG00000182093	ENSG00000182093			12790	protein-coding gene	gene with protein product		602915				9544840	Standard	NM_004627		Approved	CHD5	uc002yxs.3	O00258	OTTHUMG00000066250	ENST00000333781.5:c.451+1G>A	21.37:g.40765207G>A						WRB_ENST00000398753.1_Splice_Site|WRB_ENST00000466787.1_Splice_Site|WRB_ENST00000380708.1_Splice_Site|WRB_ENST00000541890.1_Splice_Site		NM_004627.4	NP_004618.2	O00258	WRB_HUMAN			4	592	+		Prostate(19;1.2e-06)						A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000333781.5	37		CCDS13664.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363723	0.82353	.	.	ENSG00000182093	ENST00000333781;ENST00000541890;ENST00000398753;ENST00000380708;ENST00000415847;ENST00000488295;ENST00000471225	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5998	0.91244	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WRB	39687077	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.357000	0.97099	2.389000	0.81357	0.462000	0.41574	.		0.463	WRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141745.3		Intron	12	17	0	0	0	1	0	12	17				
PLD1	5337	broad.mit.edu	37	3	171426565	171426565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171426565C>T	ENST00000351298.4	-	11	1251	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	PLD1_ENST00000356327.5_Silent_p.E375E|PLD1_ENST00000340989.4_Silent_p.E375E|PLD1_ENST00000342215.6_Silent_p.E375E	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	375					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGATAAAAATCTCTTCATTTG	0.338																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1123-1125)gaG>gaA		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						163.0	163.0	163.0					3																	171426565		2202	4300	6502	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171426565C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1125G>A	3.37:g.171426565C>T						PLD1_ENST00000340989.4_Silent_p.E375E|PLD1_ENST00000342215.6_Silent_p.E375E|PLD1_ENST00000351298.4_Silent_p.E375E	p.E375E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		11	1195	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		375						Silent	SNP	ENST00000351298.4	37	c.1125G>A	CCDS3216.1																																																																																				0.338	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		18	37	0	0	0	1	0	18	37				
MUSK	4593	broad.mit.edu	37	9	113509925	113509925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113509925C>A	ENST00000374448.4	+	7	892	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	MUSK_ENST00000416899.2_Missense_Mutation_p.S253Y|MUSK_ENST00000189978.5_Missense_Mutation_p.S253Y	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	253	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGTCAGGTTTCTTCTGGGTCC	0.393																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(757-759)tCt>tAt		muscle, skeletal, receptor tyrosine kinase							158.0	147.0	151.0					9																	113509925		1863	4113	5976	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113509925C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.758C>A	9.37:g.113509925C>A	ENSP00000363571:p.Ser253Tyr					MUSK_ENST00000189978.5_Missense_Mutation_p.S253Y|MUSK_ENST00000374448.4_Missense_Mutation_p.S253Y	p.S253Y			O15146	MUSK_HUMAN			7	884	+			253			Ig-like 3.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.758C>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247277	0.59103	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.14766	2.48	5.78	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110622	0.64402	D	0.000005	T	0.31888	0.0811	M	0.72353	2.195	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.68192	0.956;0.952	T	0.03086	-1.1074	10	0.49607	T	0.09	.	9.0415	0.36321	0.0:0.8337:0.0:0.1663	.	253;263	O15146;F5H6T2	MUSK_HUMAN;.	Y	253;253;253;263;263;253	ENSP00000363571:S253Y	ENSP00000189978:S253Y	S	+	2	0	MUSK	112549746	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.256000	0.51492	1.446000	0.47643	0.655000	0.94253	TCT		0.393	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				60	75	1	0	3.39796e-24	1	4.50554e-24	60	75				
NOTCH2	4853	broad.mit.edu	37	1	120466300	120466300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120466300G>A	ENST00000256646.2	-	26	5038	c.4819C>T	c.(4819-4821)Cgc>Tgc	p.R1607C	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1607	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGATCTGCGTGTCATCCTC	0.488			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4819-4821)Cgc>Tgc		notch 2							104.0	100.0	101.0					1																	120466300		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120466300G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4819C>T	1.37:g.120466300G>A	ENSP00000256646:p.Arg1607Cys					NOTCH2_ENST00000493703.1_5'UTR	p.R1607C	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	26	5038	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1607			Negative regulatory region (NRR).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4819C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655536	0.88056	.	.	ENSG00000134250	ENST00000256646	D	0.83163	-1.69	6.08	6.08	0.98989	.	0.000000	0.38005	U	0.001850	D	0.85548	0.5722	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86016	0.1504	10	0.62326	D	0.03	.	19.2415	0.93886	0.0:0.0:1.0:0.0	.	1607	Q04721	NOTC2_HUMAN	C	1607	ENSP00000256646:R1607C	ENSP00000256646:R1607C	R	-	1	0	NOTCH2	120267823	0.997000	0.39634	0.991000	0.47740	0.965000	0.64279	3.002000	0.49496	2.894000	0.99253	0.655000	0.94253	CGC		0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		49	71	0	0	0	1	0	49	71				
USP35	57558	broad.mit.edu	37	11	77919936	77919936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77919936G>A	ENST00000529308.1	+	9	1780	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	USP35_ENST00000526425.1_Missense_Mutation_p.A238T|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_Missense_Mutation_p.A93T|USP35_ENST00000530267.1_Missense_Mutation_p.A75T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	507	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCTCTCCGCATCCTGGAC	0.627																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1519-1521)Gca>Aca		ubiquitin specific peptidase 35							97.0	101.0	100.0					11																	77919936		2060	4182	6242	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77919936G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1519G>A	11.37:g.77919936G>A	ENSP00000431876:p.Ala507Thr					USP35_ENST00000526425.1_Missense_Mutation_p.A238T|USP35_ENST00000441408.2_Missense_Mutation_p.A93T|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.A75T	p.A507T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	1780	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		507						Missense_Mutation	SNP	ENST00000529308.1	37	c.1519G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503982	0.64410	.	.	ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.5	4.5	0.54988	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.127040	0.34362	N	0.004023	T	0.37839	0.1018	L	0.31371	0.925	0.36777	D	0.884127	D;D	0.76494	0.996;0.999	P;D	0.63793	0.833;0.918	T	0.28170	-1.0052	10	0.29301	T	0.29	-11.3317	12.4878	0.55883	0.0:0.0:0.8329:0.1671	.	507;93	Q9P2H5;E7EWV7	UBP35_HUMAN;.	T	75;263;507;93;238	ENSP00000435468:A75T;ENSP00000436001:A263T;ENSP00000431876:A507T;ENSP00000400825:A93T;ENSP00000434942:A238T	ENSP00000400825:A93T	A	+	1	0	USP35	77597584	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	7.669000	0.83911	2.343000	0.79666	0.585000	0.79938	GCA		0.627	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		45	65	0	0	0	1	0	45	65				
ASPG	374569	broad.mit.edu	37	14	104570806	104570806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104570806G>T	ENST00000551177.1	+	8	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	ASPG_ENST00000455920.2_Missense_Mutation_p.D307Y|ASPG_ENST00000546892.2_Missense_Mutation_p.D307Y	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	307	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGTGACCACAGACTATGCAGC	0.672																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(919-921)Gac>Tac		asparaginase homolog (S. cerevisiae)							32.0	40.0	37.0					14																	104570806		2117	4242	6359	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104570806G>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.919G>T	14.37:g.104570806G>T	ENSP00000450040:p.Asp307Tyr					ASPG_ENST00000455920.2_Missense_Mutation_p.D307Y|ASPG_ENST00000546892.2_Missense_Mutation_p.D307Y	p.D307Y	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			8	1011	+			307			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.919G>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	5.667	0.307621	0.10733	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.24350	1.86;1.86;1.86	4.1	3.19	0.36642	.	0.202066	0.41938	D	0.000795	T	0.31451	0.0797	L	0.51422	1.61	0.29551	N	0.851345	B;D;D;B	0.55172	0.061;0.97;0.963;0.324	B;P;P;B	0.54174	0.062;0.744;0.627;0.393	T	0.12372	-1.0550	10	0.45353	T	0.12	-16.4038	7.0205	0.24912	0.0:0.1927:0.6088:0.1985	.	307;307;307;335	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	Y	307;335;307;307	ENSP00000450040:D307Y;ENSP00000448911:D307Y;ENSP00000389003:D307Y	ENSP00000299234:D335Y	D	+	1	0	ASPG	103640559	0.022000	0.18835	0.401000	0.26359	0.040000	0.13550	2.037000	0.41174	0.671000	0.31185	0.462000	0.41574	GAC		0.672	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		6	8	1	0	3.59834e-05	1	4.01776e-05	6	8				
ZNF226	7769	broad.mit.edu	37	19	44680813	44680813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44680813G>T	ENST00000590089.1	+	7	1765	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	ZNF226_ENST00000337433.5_Missense_Mutation_p.Q466H|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.Q466H			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				AGGCCCATCAGGGAGTTCACA	0.443																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(1396-1398)caG>caT		zinc finger protein 226							69.0	77.0	74.0					19																	44680813		2188	4296	6484	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680813G>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1398G>T	19.37:g.44680813G>T	ENSP00000465121:p.Gln466His					ZNF226_ENST00000454662.2_Missense_Mutation_p.Q466H|ZNF226_ENST00000337433.5_Missense_Mutation_p.Q466H|ZNF226_ENST00000588883.1_3'UTR	p.Q466H			Q9NYT6	ZN226_HUMAN			7	1765	+		Prostate(69;0.0352)|all_neural(266;0.202)	466					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1398G>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931731	0.34096	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.07567	3.18;3.18	3.92	0.586	0.17434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.286130	0.18990	N	0.125615	T	0.09949	0.0244	M	0.75150	2.29	0.24060	N	0.996014	D	0.57899	0.981	B	0.41036	0.346	T	0.19418	-1.0306	10	0.51188	T	0.08	.	6.9278	0.24424	0.3981:0.0:0.6019:0.0	.	466	Q9NYT6	ZN226_HUMAN	H	466	ENSP00000336719:Q466H;ENSP00000393265:Q466H	ENSP00000336719:Q466H	Q	+	3	2	ZNF226	49372653	0.000000	0.05858	0.996000	0.52242	0.999000	0.98932	-0.349000	0.07731	0.107000	0.17824	0.655000	0.94253	CAG		0.443	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			7	55	1	0	5.18039e-06	1	5.91835e-06	7	55				
PTCHD1	139411	broad.mit.edu	37	X	23398314	23398314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398314C>A	ENST00000379361.4	+	2	1818	c.958C>A	c.(958-960)Ctt>Att	p.L320I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	320	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GATCATCAATCTTACTGGTGG	0.517																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(958-960)Ctt>Att		patched domain containing 1							113.0	106.0	108.0					X																	23398314		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398314C>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.958C>A	X.37:g.23398314C>A	ENSP00000368666:p.Leu320Ile						p.L320I	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1818	+			320			SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.958C>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.886056	0.33348	.	.	ENSG00000165186	ENST00000379361	D	0.86030	-2.06	5.06	5.06	0.68205	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	N	0.17082	0.46	0.46586	D	0.999115	B;B	0.32128	0.357;0.021	B;B	0.39152	0.279;0.292	T	0.75141	-0.3422	10	0.30078	T	0.28	.	13.5401	0.61668	0.0:0.8483:0.1517:0.0	.	215;320	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	I	320	ENSP00000368666:L320I	ENSP00000368666:L320I	L	+	1	0	PTCHD1	23308235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.492000	0.60334	2.492000	0.84095	0.600000	0.82982	CTT		0.517	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		13	130	1	0	4.93089e-13	1	6.23885e-13	13	130				
MSH3	4437	broad.mit.edu	37	5	79952298	79952298	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79952298G>T	ENST00000265081.6	+	2	386	c.306G>T	c.(304-306)aaG>aaT	p.K102N	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	102	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGAAAGTAAAGAAAGTCCAAC	0.408								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(304-306)aaG>aaT	Mismatch excision repair (MMR)	mutS homolog 3							124.0	130.0	128.0					5																	79952298		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79952298G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.306G>T	5.37:g.79952298G>T	ENSP00000265081:p.Lys102Asn						p.K102N	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	2	386	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	102			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.306G>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737250	0.49045	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.88741	-2.42	4.83	3.69	0.42338	.	0.634485	0.13883	N	0.356196	T	0.81375	0.4809	L	0.42245	1.32	0.24123	N	0.995797	P	0.43477	0.808	B	0.37239	0.244	T	0.72865	-0.4163	9	.	.	.	-8.0704	6.0156	0.19601	0.1721:0.0:0.8279:0.0	.	102	P20585	MSH3_HUMAN	N	102;93	ENSP00000265081:K102N	.	K	+	3	2	MSH3	79988054	0.486000	0.25980	0.647000	0.29507	0.906000	0.53458	1.251000	0.32862	2.383000	0.81215	0.563000	0.77884	AAG		0.408	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		26	40	1	0	1.66031e-10	1	2.04717e-10	26	40				
RELN	5649	broad.mit.edu	37	7	103159852	103159852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103159852C>T	ENST00000428762.1	-	49	7939	c.7780G>A	c.(7780-7782)Gtt>Att	p.V2594I	RELN_ENST00000424685.2_Missense_Mutation_p.V2594I|RELN_ENST00000343529.5_Missense_Mutation_p.V2594I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2594					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAAGAGAACACCTTGGTTA	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7780-7782)Gtt>Att		reelin							163.0	133.0	143.0					7																	103159852		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103159852C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7780G>A	7.37:g.103159852C>T	ENSP00000392423:p.Val2594Ile					RELN_ENST00000424685.2_Missense_Mutation_p.V2594I|RELN_ENST00000343529.5_Missense_Mutation_p.V2594I	p.V2594I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	49	7939	-			2594					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7780G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043557	0.93685	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21734	1.99;1.99;1.99	5.87	5.87	0.94306	Neuraminidase (3);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	L	0.58428	1.81	0.58432	D	0.999998	D;B	0.58268	0.982;0.134	D;B	0.73380	0.98;0.122	T	0.28459	-1.0043	10	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	2594;2594	P78509-2;P78509	.;RELN_HUMAN	I	2594;2594;2594;111;2594	ENSP00000392423:V2594I;ENSP00000345694:V2594I;ENSP00000388446:V2594I	ENSP00000345694:V2594I	V	-	1	0	RELN	102947088	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.461000	0.80834	2.780000	0.95670	0.655000	0.94253	GTT		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		21	64	0	0	0	1	0	21	64				
FNIP1	96459	broad.mit.edu	37	5	131014841	131014841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131014841C>T	ENST00000510461.1	-	12	1325	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	FNIP1_ENST00000511848.1_Missense_Mutation_p.M410I|FNIP1_ENST00000307968.7_Missense_Mutation_p.M382I|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.M365I	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	410					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAATTCGTGGCATCGTGTAAA	0.358																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1144-1146)atG>atA		folliculin interacting protein 1							82.0	77.0	78.0					5																	131014841		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131014841C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1230G>A	5.37:g.131014841C>T	ENSP00000421985:p.Met410Ile					FNIP1_ENST00000307954.8_Missense_Mutation_p.M365I|FNIP1_ENST00000511848.1_Missense_Mutation_p.M410I|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.M410I	p.M382I	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	11	1145	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1146G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844507	0.91197	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.06	5.06	0.68205	.	.	.	.	.	T	0.45915	0.1366	L	0.36672	1.1	0.80722	D	1	D;D;D;B	0.58268	0.982;0.962;0.982;0.113	D;D;D;B	0.68943	0.961;0.946;0.961;0.113	T	0.18903	-1.0322	9	0.31617	T	0.26	-6.6849	18.7821	0.91937	0.0:1.0:0.0:0.0	.	410;410;382;410	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	I	382;365;170;410;410	ENSP00000309266:M382I;ENSP00000310453:M365I;ENSP00000421985:M410I;ENSP00000425619:M410I	ENSP00000310453:M365I	M	-	3	0	FNIP1	131042740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.520000	0.84964	0.655000	0.94253	ATG		0.358	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		21	38	0	0	0	1	0	21	38				
BCR	613	broad.mit.edu	37	22	23603637	23603637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23603637C>T	ENST00000305877.8	+	4	2413	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	BCR_ENST00000359540.3_Silent_p.Y554Y|RN7SL263P_ENST00000467969.2_RNA	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	554	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CTGAGCTCTACGAGATCCACA	0.587			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1660-1662)taC>taT		breakpoint cluster region							77.0	81.0	80.0					22																	23603637		2203	4300	6503	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23603637C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1662C>T	22.37:g.23603637C>T						BCR_ENST00000359540.3_Silent_p.Y554Y	p.Y554Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			4	2413	+			554			DH.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.1662C>T	CCDS13806.1																																																																																				0.587	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		33	42	0	0	0	1	0	33	42				
CCDC107	203260	broad.mit.edu	37	9	35660849	35660849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35660849G>T	ENST00000426546.2	+	5	583	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.E173*|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank|RMRP_ENST00000602361.1_lincRNA	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	173						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCTTCAGAACCAGGTGA	0.557																																						ENST00000426546.2																			0				endometrium(1)|lung(3)|skin(1)	5						c.(517-519)Gaa>Taa		coiled-coil domain containing 107							127.0	138.0	135.0					9																	35660849		2203	4300	6503	SO:0001587	stop_gained	203260					integral to membrane		g.chr9:35660849G>T	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.517G>T	9.37:g.35660849G>T	ENSP00000414964:p.Glu173*					CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.E173*|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR	p.E173*	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	583	+	all_epithelial(49;0.217)		173					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Nonsense_Mutation	SNP	ENST00000426546.2	37	c.517G>T	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899927	0.33535	.	.	ENSG00000159884	ENST00000426546;ENST00000378409	.	.	.	5.44	3.53	0.40419	.	0.390052	0.26227	N	0.025585	.	.	.	.	.	.	0.19945	N	0.999945	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.9178	6.7379	0.23419	0.0928:0.1799:0.7272:0.0	.	.	.	.	X	173	.	ENSP00000367665:E173X	E	+	1	0	CCDC107	35650849	0.997000	0.39634	0.964000	0.40570	0.421000	0.31385	3.656000	0.54467	2.837000	0.97791	0.655000	0.94253	GAA		0.557	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		14	205	1	0	1.15088e-07	1	1.35723e-07	14	205				
MAGEA4	4103	broad.mit.edu	37	X	151092966	151092966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092966G>T	ENST00000360243.2	+	3	1097	c.830G>T	c.(829-831)aGg>aTg	p.R277M	MAGEA4_ENST00000370340.3_Missense_Mutation_p.R277M|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R277M|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R277M|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R277M	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	277	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGTCCAAGGGCTCTGGCT	0.552																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(829-831)aGg>aTg		melanoma antigen family A, 4							129.0	128.0	128.0					X																	151092966		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092966G>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.830G>T	X.37:g.151092966G>T	ENSP00000353379:p.Arg277Met					MAGEA4_ENST00000276344.2_Missense_Mutation_p.R277M|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R277M|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R277M|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R277M	p.R277M			P43358	MAGA4_HUMAN			3	1097	+	Acute lymphoblastic leukemia(192;6.56e-05)		277			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.830G>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936626	0.34189	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	2.55	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	H	0.95574	3.69	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.41805	-0.9488	9	.	.	.	.	4.6315	0.12504	0.1883:0.0:0.8117:0.0	.	277	P43358	MAGA4_HUMAN	M	277	ENSP00000276344:R277M;ENSP00000377498:R277M;ENSP00000359362:R277M;ENSP00000377497:R277M;ENSP00000359365:R277M;ENSP00000359360:R277M;ENSP00000353379:R277M	.	R	+	2	0	MAGEA4	150843622	0.330000	0.24705	0.009000	0.14445	0.020000	0.10135	3.479000	0.53165	0.502000	0.28037	0.292000	0.19580	AGG		0.552	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		15	159	1	0	0.000219431	1	0.000240782	15	159				
ARG1	383	broad.mit.edu	37	6	131904949	131904949	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131904949T>C	ENST00000368087.3	+	8	1009	c.870T>C	c.(868-870)acT>acC	p.T290T	MED23_ENST00000479213.1_5'Flank|ARG1_ENST00000356962.2_Silent_p.T298T|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	290			T -> S. {ECO:0000269|PubMed:1598908}.		arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AAGAAGTAACTCGAACAGTGA	0.413																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14						c.(868-870)acT>acC		arginase 1	L-Ornithine(DB00129)						140.0	122.0	128.0					6																	131904949		2203	4300	6503	SO:0001819	synonymous_variant	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131904949T>C		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.870T>C	6.37:g.131904949T>C						MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Silent_p.T298T|ARG1_ENST00000476845.1_Silent_p.T204T	p.T290T			P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	8	1009	+	Breast(56;0.0753)		290		T -> S (could be a polymorphism).			A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Silent	SNP	ENST00000368087.3	37	c.870T>C	CCDS5145.1																																																																																				0.413	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			6	50	0	0	0	1	0	6	50				
ZNF785	146540	broad.mit.edu	37	16	30594701	30594701	+	Missense_Mutation	SNP	G	G	A	rs147472796		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30594701G>A	ENST00000395216.2	-	3	557	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZNF785_ENST00000470110.1_Missense_Mutation_p.A118V|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACTTCATGCGCCACCTCTTT	0.527																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(397-399)gCg>gTg		zinc finger protein 785		G	VAL/ALA	0,4394		0,0,2197	86.0	94.0	92.0		398	-5.7	0.0	16	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF785	NM_152458.6	64	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	133/406	30594701	1,12993	2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594701G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.398C>T	16.37:g.30594701G>A	ENSP00000378642:p.Ala133Val					ZNF785_ENST00000470110.1_Missense_Mutation_p.A118V|AC002310.7_ENST00000492040.1_RNA	p.A133V	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	557	-			133					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.398C>T	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	g	5.652	0.304898	0.10678	0.0	1.16E-4	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.05513	3.43;3.47	2.84	-5.66	0.02451	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	P;P;P	0.39717	0.556;0.556;0.684	B;B;B	0.24541	0.035;0.035;0.054	T	0.46233	-0.9206	9	0.28530	T	0.3	.	6.27	0.20949	0.0:0.2203:0.5404:0.2393	.	98;133;118	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	V	118;98;133	ENSP00000420340:A118V;ENSP00000378642:A133V	ENSP00000378642:A133V	A	-	2	0	ZNF785	30502202	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.787000	0.00769	-1.260000	0.02465	-0.457000	0.05445	GCG		0.527	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		39	58	0	0	0	1	0	39	58				
AMER1	139285	broad.mit.edu	37	X	63412964	63412964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63412964G>T	ENST00000330258.3	-	2	475	c.203C>A	c.(202-204)aCt>aAt	p.T68N	AMER1_ENST00000403336.1_Missense_Mutation_p.T68N|AMER1_ENST00000374869.3_Missense_Mutation_p.T68N	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	68					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ACTAGGCAGAGTACAGATACC	0.537																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(202-204)aCt>aAt		APC membrane recruitment protein 1							157.0	127.0	137.0					X																	63412964		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63412964G>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.203C>A	X.37:g.63412964G>T	ENSP00000329117:p.Thr68Asn					AMER1_ENST00000403336.1_Missense_Mutation_p.T68N|AMER1_ENST00000374869.3_Missense_Mutation_p.T68N	p.T68N	NM_152424.3	NP_689637.3					2	475	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.203C>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585155	0.66105	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.53857	0.6;0.65;0.6	4.52	4.52	0.55395	.	0.058237	0.64402	D	0.000002	T	0.69860	0.3158	M	0.65498	2.005	0.36348	D	0.859939	D	0.76494	0.999	D	0.73708	0.981	T	0.77913	-0.2410	10	0.72032	D	0.01	-14.5182	15.707	0.77592	0.0:0.0:1.0:0.0	.	68	Q5JTC6	F123B_HUMAN	N	68	ENSP00000364003:T68N;ENSP00000329117:T68N;ENSP00000384722:T68N	ENSP00000329117:T68N	T	-	2	0	FAM123B	63329689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.696000	0.68287	2.496000	0.84212	0.600000	0.82982	ACT		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		5	54	1	0	0.00307968	1	0.00325696	5	54				
BRWD1	54014	broad.mit.edu	37	21	40587227	40587227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40587227C>T	ENST00000333229.2	-	32	4048	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E1241K|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000342449.3_Missense_Mutation_p.E1241K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1241	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTCTCAGGTTCGTTAAATGTT	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(3721-3723)Gaa>Aaa		bromodomain and WD repeat domain containing 1							149.0	136.0	140.0					21																	40587227		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40587227C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3721G>A	21.37:g.40587227C>T	ENSP00000330753:p.Glu1241Lys					BRWD1_ENST00000333229.2_Missense_Mutation_p.E1241K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1241K	p.E1241K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			32	3799	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1241			Bromo 1.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3721G>A	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.484532|5.484532	0.96323|0.96323	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Bromodomain (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.75339|0.75339	0.3836|0.3836	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.993;0.999|.	T|T	0.73263|0.73263	-0.4038|-0.4038	10|5	0.87932|.	D|.	0|.	.|.	19.5116|19.5116	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1241;1241;1241|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	K|Q	1241;1241;1241;245|226	ENSP00000330753:E1241K;ENSP00000344333:E1241K;ENSP00000370178:E1241K|.	ENSP00000330753:E1241K|.	E|R	-|-	1|2	0|0	BRWD1|BRWD1	39509097|39509097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.395000|7.395000	0.79876|0.79876	2.619000|2.619000	0.88677|0.88677	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		30	29	0	0	0	1	0	30	29				
ADAMTS9	56999	broad.mit.edu	37	3	64617176	64617176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64617176G>A	ENST00000498707.1	-	16	2686	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R754W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	782	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTGCTGCCGCACATCAATA	0.463																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2344-2346)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							157.0	162.0	161.0					3																	64617176		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64617176G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2344C>T	3.37:g.64617176G>A	ENSP00000418735:p.Arg782Trp					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R754W	p.R782W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	16	2686	-		Lung NSC(201;0.00682)	782			Spacer.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2344C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222448	0.79464	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.55052	0.54;0.54	6.07	4.26	0.50523	ADAM-TS Spacer 1 (1);	0.066731	0.64402	D	0.000009	T	0.77018	0.4069	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;P;D	0.67900	0.932;0.921;0.9;0.954	T	0.82530	-0.0411	10	0.62326	D	0.03	.	15.6796	0.77357	0.0:0.0:0.7494:0.2506	.	754;782;782;782	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	W	754;782	ENSP00000295903:R754W;ENSP00000418735:R782W	ENSP00000295903:R754W	R	-	1	2	ADAMTS9	64592216	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.486000	0.66856	0.871000	0.35750	0.650000	0.86243	CGG		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			16	120	0	0	0	1	0	16	120				
ZC3H12D	340152	broad.mit.edu	37	6	149772540	149772540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149772540G>A	ENST00000409806.3	-	6	1181	c.863C>T	c.(862-864)gCc>gTc	p.A288V	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A288V|ZC3H12D_ENST00000498662.1_5'Flank|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A288V|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.A288V			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	288					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GAGCTCGTCGGCCACCGCCAG	0.731																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(862-864)gCc>gTc		zinc finger CCCH-type containing 12D							12.0	13.0	12.0					6																	149772540		1833	4058	5891	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149772540G>A			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.863C>T	6.37:g.149772540G>A	ENSP00000386616:p.Ala288Val					ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A288V|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A288V|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.A288V	p.A288V			A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	6	1110	-		Ovarian(120;0.0907)	288					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.863C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.884905	0.91814	.	.	ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614	T;T;T;T	0.40225	1.04;1.16;1.04;1.19	3.32	2.42	0.29668	.	0.085992	0.45606	D	0.000359	T	0.42471	0.1204	L	0.45352	1.415	0.37454	D	0.91493	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.47837	-0.9086	10	0.87932	D	0	-16.3448	11.8686	0.52507	0.0:0.0:0.8235:0.1765	.	288;288	A2A288;B7WNU7	ZC12D_HUMAN;.	V	288	ENSP00000374592:A288V;ENSP00000408686:A288V;ENSP00000386616:A288V;ENSP00000440813:A288V	ENSP00000374592:A288V	A	-	2	0	ZC3H12D	149814233	1.000000	0.71417	0.750000	0.31169	0.969000	0.65631	7.433000	0.80362	0.668000	0.31126	0.462000	0.41574	GCC		0.731	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		7	11	0	0	0	1	0	7	11				
SYT14	255928	broad.mit.edu	37	1	210273719	210273719	+	Silent	SNP	G	G	T	rs532632303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210273719G>T	ENST00000472886.1	+	6	1091	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	SYT14_ENST00000534859.1_Silent_p.V359V|SYT14_ENST00000399639.2_Silent_p.V359V|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000422431.1_Silent_p.V404V|SYT14_ENST00000537238.1_Silent_p.V321V|SYT14_ENST00000367015.1_Silent_p.V321V|SYT14_ENST00000367019.1_Silent_p.V359V			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	359	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAAAGATTGTGGGGGAAAAGA	0.313																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(961-963)gtG>gtT		synaptotagmin XIV							41.0	44.0	43.0					1																	210273719		2203	4299	6502	SO:0001819	synonymous_variant	255928					integral to membrane		g.chr1:210273719G>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1077G>T	1.37:g.210273719G>T						SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Silent_p.V359V|SYT14_ENST00000534859.1_Silent_p.V359V|SYT14_ENST00000422431.1_Silent_p.V404V|SYT14_ENST00000367015.1_Silent_p.V321V|SYT14_ENST00000367019.1_Silent_p.V359V|SYT14_ENST00000472886.1_Silent_p.V359V	p.V321V	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	7	1354	+			359			C2 1.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	c.963G>T	CCDS31014.1																																																																																				0.313	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		4	67	1	0	0.00024832	1	0.0002712	4	67				
PDZD4	57595	broad.mit.edu	37	X	153069756	153069756	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069756G>A	ENST00000164640.4	-	8	1553	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	PDZD4_ENST00000393758.2_Silent_p.S379S|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Silent_p.S345S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	454						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGATGTCGGACAGCTCGT	0.657																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1360-1362)tcC>tcT		PDZ domain containing 4							32.0	31.0	31.0					X																	153069756		2203	4294	6497	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153069756G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1362C>T	X.37:g.153069756G>A						PDZD4_ENST00000544474.1_Silent_p.S345S|PDZD4_ENST00000393758.2_Silent_p.S379S	p.S454S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1553	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		454					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.1362C>T	CCDS14732.1																																																																																				0.657	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		4	48	0	0	0	1	0	4	48				
PLCE1	51196	broad.mit.edu	37	10	96006077	96006077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96006077C>T	ENST00000371380.3	+	7	3030	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	PLCE1_ENST00000260766.3_Missense_Mutation_p.T932M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T624M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T624M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	932					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTAGCCTGACGGAAGGGGTC	0.478																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2794-2796)aCg>aTg		phospholipase C, epsilon 1							100.0	103.0	102.0					10																	96006077		1906	4134	6040	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96006077C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2795C>T	10.37:g.96006077C>T	ENSP00000360431:p.Thr932Met					PLCE1_ENST00000371380.2_Missense_Mutation_p.T932M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T624M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T624M	p.T932M	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			8	3429	+		Colorectal(252;0.0458)	932					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2795C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	6.367	0.435775	0.12104	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.04	-6.29	0.02013	.	0.918572	0.09397	N	0.807704	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	B;B;B	0.19200	0.016;0.008;0.034	B;B;B	0.08055	0.002;0.003;0.003	T	0.10543	-1.0625	10	0.51188	T	0.08	.	17.0617	0.86549	0.0:0.3356:0.0:0.6644	.	932;624;932	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	M	932;932;624;624	ENSP00000260766:T932M;ENSP00000360431:T932M;ENSP00000360438:T624M;ENSP00000360426:T624M	ENSP00000260766:T932M	T	+	2	0	PLCE1	95996067	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.396000	0.07278	-1.191000	0.02695	-0.482000	0.04802	ACG		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		38	54	0	0	0	1	0	38	54				
CRB3	92359	broad.mit.edu	37	19	6465560	6465560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6465560G>T	ENST00000598494.1	+	3	618	c.87G>T	c.(85-87)caG>caT	p.Q29H	CRB3_ENST00000600229.1_Missense_Mutation_p.Q29H|CRB3_ENST00000308243.7_Missense_Mutation_p.Q29H|CRB3_ENST00000356762.3_Missense_Mutation_p.Q29H			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	29					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)			endometrium(1)|large_intestine(1)|lung(1)	3						CCACAGTACAGACCACTTCTG	0.532																																						ENST00000598494.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(85-87)caG>caT		crumbs homolog 3 (Drosophila)							410.0	340.0	363.0					19																	6465560		2203	4300	6503	SO:0001583	missense	0				protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding	g.chr19:6465560G>T	AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"""crumbs homolog 3 (Drosophila)"""				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.87G>T	19.37:g.6465560G>T	ENSP00000469707:p.Gln29His					CRB3_ENST00000356762.3_Missense_Mutation_p.Q29H|CRB3_ENST00000600229.1_Missense_Mutation_p.Q29H|CRB3_ENST00000308243.7_Missense_Mutation_p.Q29H	p.Q29H			Q9BUF7	CRUM3_HUMAN			3	618	+			29					A8KA91|D6W643|Q8N0V8|Q8WVA0	Missense_Mutation	SNP	ENST00000598494.1	37	c.87G>T	CCDS12167.1	.	.	.	.	.	.	.	.	.	.	G	6.224	0.409519	0.11812	.	.	ENSG00000130545	ENST00000356762;ENST00000308243	.	.	.	3.39	-4.28	0.03732	.	15.830000	0.00166	N	0.000002	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B	0.24920	0.114;0.114	B;B	0.24701	0.055;0.055	T	0.15896	-1.0421	9	0.48119	T	0.1	.	4.4802	0.11764	0.524:0.0:0.313:0.163	.	29;29	Q9BUF7-2;Q9BUF7	.;CRUM3_HUMAN	H	29	.	ENSP00000310123:Q29H	Q	+	3	2	CRB3	6416560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.953000	0.01526	-0.816000	0.04340	-0.824000	0.03097	CAG		0.532	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1			32	285	1	0	1.56442e-22	1	2.06521e-22	32	285				
GMIP	51291	broad.mit.edu	37	19	19746001	19746001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19746001G>A	ENST00000203556.4	-	16	1719	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.R502C|GMIP_ENST00000445806.2_Missense_Mutation_p.R499C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	528					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGCAGCGCTTGTGGCAG	0.582																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1582-1584)Cgc>Tgc		GEM interacting protein							22.0	25.0	24.0					19																	19746001		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19746001G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1582C>T	19.37:g.19746001G>A	ENSP00000203556:p.Arg528Cys					GMIP_ENST00000445806.2_Missense_Mutation_p.R499C|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.R502C	p.R528C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			16	1719	-			528					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1582C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340131	0.60963	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	D;D	0.85411	-1.98;-1.98	5.05	5.05	0.67936	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.44902	D	0.000407	D	0.88138	0.6356	L	0.43152	1.355	0.44862	D	0.997878	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.974;0.948;0.974	D	0.88726	0.3233	10	0.87932	D	0	-18.9195	11.0719	0.48008	0.0:0.0:0.8147:0.1853	.	499;502;528	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	C	528;499	ENSP00000203556:R528C;ENSP00000397075:R499C	ENSP00000203556:R528C	R	-	1	0	GMIP	19607001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.689000	0.54706	2.355000	0.79922	0.561000	0.74099	CGC		0.582	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		8	9	0	0	0	1	0	8	9				
ZNF134	7693	broad.mit.edu	37	19	58131538	58131538	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58131538T>C	ENST00000396161.5	+	3	361	c.51T>C	c.(49-51)caT>caC	p.H17H	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTGTTGGCATGAAGTGAAGG	0.458																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(49-51)caT>caC		zinc finger protein 134							87.0	83.0	85.0					19																	58131538		2062	4235	6297	SO:0001819	synonymous_variant	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131538T>C	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.51T>C	19.37:g.58131538T>C						ZNF134_ENST00000597975.1_3'UTR	p.H17H	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	361	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	17					Q9Y4B2	Silent	SNP	ENST00000396161.5	37	c.51T>C	CCDS42638.1																																																																																				0.458	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		8	80	0	0	0	1	0	8	80				
L3MBTL1	26013	broad.mit.edu	37	20	42164880	42164880	+	Missense_Mutation	SNP	G	G	A	rs370267982		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42164880G>A	ENST00000427442.2	+	18	2162	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.R605H|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.R600H|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.R668H|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.R600H			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	600					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCTCAGCCCGCAAGAAGAAC	0.637																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1798-1800)cGc>cAc		l(3)mbt-like 1 (Drosophila)		G	HIS/ARG,HIS/ARG	0,4404		0,0,2202	14.0	15.0	14.0		1799,2003	4.6	1.0	20		14	2,8596		0,2,4297	no	missense,missense	L3MBTL1	NM_015478.6,NM_032107.4	29,29	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	600/773,668/841	42164880	2,13000	2202	4299	6501	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42164880G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2003G>A	20.37:g.42164880G>A	ENSP00000402107:p.Arg668His					L3MBTL1_ENST00000373134.1_Missense_Mutation_p.R605H|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.R668H|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.R668H|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.R600H	p.R600H			Q9Y468	LMBL1_HUMAN			15	1931	+			600					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1799G>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	32	5.126542	0.94429	0.0	2.33E-4	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.25085	2.1;2.1;2.07;2.09;2.06;1.82	5.56	4.61	0.57282	.	0.213645	0.39985	N	0.001217	T	0.28830	0.0715	L	0.29908	0.895	0.36438	D	0.865328	D;B;D;D	0.61080	0.98;0.217;0.986;0.989	P;B;P;P	0.53401	0.62;0.036;0.653;0.725	T	0.27226	-1.0080	10	0.51188	T	0.08	.	11.8126	0.52192	0.0826:0.0:0.9174:0.0	.	668;252;600;600	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	H	668;668;600;600;605;386;252	ENSP00000402107:R668H;ENSP00000398516:R668H;ENSP00000362227:R600H;ENSP00000403316:R600H;ENSP00000362226:R605H;ENSP00000410139:R386H	ENSP00000362225:R252H	R	+	2	0	L3MBTL1	41598294	0.993000	0.37304	0.994000	0.49952	0.957000	0.61999	3.262000	0.51538	1.505000	0.48720	0.638000	0.83543	CGC		0.637	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		5	4	0	0	0	1	0	5	4				
ADCK1	57143	broad.mit.edu	37	14	78365463	78365463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365463G>T	ENST00000238561.5	+	6	702	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ADCK1_ENST00000341211.5_Missense_Mutation_p.K133N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	208	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGGCTGTGAAGCAGCTGTTCC	0.507																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(601-603)aaG>aaT		aarF domain containing kinase 1							196.0	169.0	178.0					14																	78365463		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78365463G>T	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.603G>T	14.37:g.78365463G>T	ENSP00000238561:p.Lys201Asn					ADCK1_ENST00000341211.5_Missense_Mutation_p.K133N	p.K201N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	6	702	+			208			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.603G>T	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465285	0.43839	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.56103	0.48;0.48;0.48	5.53	3.72	0.42706	.	0.096213	0.64402	D	0.000001	T	0.43809	0.1264	N	0.25286	0.73	0.44194	D	0.997016	P;P	0.43662	0.814;0.573	P;B	0.46758	0.526;0.185	T	0.16335	-1.0406	10	0.27785	T	0.31	-35.0555	11.9376	0.52882	0.1404:0.0:0.8596:0.0	.	133;201	Q9UIE6;Q86TW2-2	.;.	N	201;201;133	ENSP00000238561:K201N;ENSP00000451549:K201N;ENSP00000339663:K133N	ENSP00000238561:K201N	K	+	3	2	ADCK1	77435216	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.092000	0.41700	0.708000	0.31955	-0.218000	0.12543	AAG		0.507	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		48	58	1	0	2.29192e-23	1	3.03378e-23	48	58				
TNKS1BP1	85456	broad.mit.edu	37	11	57077411	57077411	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077411T>C	ENST00000532437.1	-	5	3085	c.2774A>G	c.(2773-2775)gAg>gGg	p.E925G	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E925G|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	925	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAGTCCTGCTCATCGGCATC	0.572																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2773-2775)gAg>gGg		tankyrase 1 binding protein 1, 182kDa							181.0	177.0	179.0					11																	57077411		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077411T>C	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2774A>G	11.37:g.57077411T>C	ENSP00000437271:p.Glu925Gly					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E925G	p.E925G			Q9C0C2	TB182_HUMAN			5	3085	-		all_epithelial(135;0.21)	925			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2774A>G	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	T	3.248	-0.153883	0.06585	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32272	1.46;1.46	5.35	-0.264	0.12950	.	1.223130	0.06001	N	0.647888	T	0.10680	0.0261	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26503	-1.0101	10	0.22706	T	0.39	-3.0275	0.3911	0.00411	0.1894:0.2166:0.1709:0.423	.	925	Q9C0C2	TB182_HUMAN	G	925	ENSP00000350990:E925G;ENSP00000437271:E925G	ENSP00000350990:E925G	E	-	2	0	TNKS1BP1	56833987	0.000000	0.05858	0.360000	0.25837	0.115000	0.19883	-0.162000	0.10012	0.312000	0.23038	0.379000	0.24179	GAG		0.572	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		11	146	0	0	0	1	0	11	146				
SECISBP2	79048	broad.mit.edu	37	9	91940432	91940432	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91940432C>A	ENST00000375807.3	+	3	344	c.273C>A	c.(271-273)gcC>gcA	p.A91A	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Silent_p.A23A|SECISBP2_ENST00000339901.4_Intron	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	91					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCCATATGCCTATTCTCCTT	0.398																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(271-273)gcC>gcA		SECIS binding protein 2							202.0	188.0	193.0					9																	91940432		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91940432C>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.273C>A	9.37:g.91940432C>A						SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Intron|SECISBP2_ENST00000534113.2_Silent_p.A23A	p.A91A	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			3	344	+			91					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.273C>A	CCDS6683.1																																																																																				0.398	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		22	182	1	0	0.000229342	1	0.000251627	22	182				
CLEC4E	26253	broad.mit.edu	37	12	8689848	8689848	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8689848A>G	ENST00000299663.3	-	4	400	c.235T>C	c.(235-237)Tgt>Cgt	p.C79R	CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	79					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AATGGACAACAATTCTTGACT	0.443																																						ENST00000299663.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(235-237)Tgt>Cgt		C-type lectin domain family 4, member E							100.0	97.0	98.0					12																	8689848		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8689848A>G	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.235T>C	12.37:g.8689848A>G	ENSP00000299663:p.Cys79Arg					CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron	p.C79R	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN			4	400	-	Lung SC(5;0.184)		79					B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.235T>C	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744478	0.30865	.	.	ENSG00000166523	ENST00000299663	T	0.16743	2.32	4.7	4.7	0.59300	C-type lectin-like (1);	0.000000	0.64402	D	0.000007	T	0.33000	0.0848	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.02251	-1.1188	10	0.52906	T	0.07	.	10.7377	0.46135	1.0:0.0:0.0:0.0	.	79	Q9ULY5	CLC4E_HUMAN	R	79	ENSP00000299663:C79R	ENSP00000299663:C79R	C	-	1	0	CLEC4E	8581115	0.969000	0.33509	0.991000	0.47740	0.012000	0.07955	4.004000	0.57068	2.125000	0.65367	0.482000	0.46254	TGT		0.443	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		21	49	0	0	0	1	0	21	49				
UNK	85451	broad.mit.edu	37	17	73808617	73808617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73808617G>A	ENST00000589666.1	+	4	683	c.573G>A	c.(571-573)gcG>gcA	p.A191A	UNK_ENST00000293218.3_Silent_p.A267A	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	191							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGGCTGCGAGCCATGCCA	0.607																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(799-801)gcG>gcA		unkempt family zinc finger							35.0	42.0	40.0					17																	73808617		2034	4190	6224	SO:0001819	synonymous_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73808617G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.573G>A	17.37:g.73808617G>A						UNK_ENST00000589666.1_Silent_p.A191A	p.A267A			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	801	+			191						Silent	SNP	ENST00000589666.1	37	c.801G>A	CCDS45778.2																																																																																				0.607	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		4	23	0	0	0	1	0	4	23				
PAK3	5063	broad.mit.edu	37	X	110391030	110391030	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110391030G>T	ENST00000372010.1	+	8	829	c.387G>T	c.(385-387)aaG>aaT	p.K129N	PAK3_ENST00000372007.5_Missense_Mutation_p.K114N|PAK3_ENST00000519681.1_Missense_Mutation_p.K135N|PAK3_ENST00000518291.1_Missense_Mutation_p.K150N|PAK3_ENST00000262836.4_Missense_Mutation_p.K129N|PAK3_ENST00000446737.1_Missense_Mutation_p.K114N|PAK3_ENST00000417227.1_Missense_Mutation_p.K135N|PAK3_ENST00000425146.1_Missense_Mutation_p.K114N|PAK3_ENST00000360648.4_Missense_Mutation_p.K150N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	129	Autoregulatory region. {ECO:0000250}.|Linker.			QKKN -> PEEE (in Ref. 2; AAF67008). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACAGAAGAAGAACCCACAAG	0.408										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(403-405)aaG>aaT		p21 protein (Cdc42/Rac)-activated kinase 3							120.0	104.0	109.0					X																	110391030		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110391030G>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.387G>T	X.37:g.110391030G>T	ENSP00000361080:p.Lys129Asn	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_Missense_Mutation_p.K129N|PAK3_ENST00000417227.1_Missense_Mutation_p.K135N|PAK3_ENST00000360648.4_Missense_Mutation_p.K150N|PAK3_ENST00000372007.4_Missense_Mutation_p.K114N|PAK3_ENST00000518291.1_Missense_Mutation_p.K150N|PAK3_ENST00000425146.1_Missense_Mutation_p.K114N|PAK3_ENST00000446737.1_Missense_Mutation_p.K114N|PAK3_ENST00000262836.4_Missense_Mutation_p.K129N	p.K135N			O75914	PAK3_HUMAN			8	847	+			129	VLDV -> CSRC (in Ref. 2).		Autoregulatory region (By similarity).|Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.405G>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552158	0.27739	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.74	3.95	0.45737	PAK-box/P21-Rho-binding (1);	0.049131	0.85682	D	0.000000	D	0.82944	0.5147	L	0.39692	1.235	0.53005	D	0.999964	B;B;B;B	0.21225	0.042;0.053;0.024;0.002	B;B;B;B	0.30782	0.12;0.109;0.064;0.019	T	0.79315	-0.1854	10	0.48119	T	0.1	.	11.9891	0.53166	0.1464:0.0:0.8536:0.0	.	135;150;129;114	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	N	114;114;129;135;114;150;150;150;135;129	ENSP00000410853:K114N;ENSP00000401982:K114N;ENSP00000361080:K129N;ENSP00000429113:K135N;ENSP00000361077:K114N;ENSP00000428921:K150N;ENSP00000405642:K150N;ENSP00000353864:K150N;ENSP00000389172:K135N;ENSP00000262836:K129N	ENSP00000262836:K129N	K	+	3	2	PAK3	110277686	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.259000	0.51515	1.186000	0.42985	0.538000	0.68166	AAG		0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		32	64	1	0	5.45727e-16	1	7.024e-16	32	64				
EXTL1	2134	broad.mit.edu	37	1	26357053	26357053	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26357053C>A	ENST00000374280.3	+	4	1935	c.1068C>A	c.(1066-1068)tcC>tcA	p.S356S	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	356					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACTTCTCCTCAGTGGAGA	0.597																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1066-1068)tcC>tcA		exostosin-like glycosyltransferase 1							83.0	73.0	77.0					1																	26357053		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26357053C>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1068C>A	1.37:g.26357053C>A						EXTL1_ENST00000484339.1_3'UTR	p.S356S	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	4	1935	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	356					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.1068C>A	CCDS271.1																																																																																				0.597	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		8	65	1	0	0.000274275	1	0.000298791	8	65				
BCAR3	8412	broad.mit.edu	37	1	94049657	94049657	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94049657G>A	ENST00000370244.1	-	8	1239	c.951C>T	c.(949-951)agC>agT	p.S317S	BCAR3_ENST00000539242.1_5'UTR|BCAR3_ENST00000370247.3_Silent_p.S226S|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.S317S|BCAR3_ENST00000370243.1_Silent_p.S317S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	317					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGCGGGCTGGCTACCACTCT	0.453																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(949-951)agC>agT		breast cancer anti-estrogen resistance 3							83.0	81.0	82.0					1																	94049657		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94049657G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.951C>T	1.37:g.94049657G>A						BCAR3_ENST00000370247.3_Silent_p.S226S|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.S317S|BCAR3_ENST00000370243.1_Silent_p.S317S|BCAR3_ENST00000539242.1_5'UTR	p.S317S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	8	1239	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	317					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.951C>T	CCDS745.1																																																																																				0.453	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			37	27	0	0	0	1	0	37	27				
DYNC1LI2	1783	broad.mit.edu	37	16	66762943	66762943	+	Splice_Site	SNP	C	C	A	rs375042058		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66762943C>A	ENST00000258198.2	-	9	1307	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Splice_Site_p.Q290H|DYNC1LI2_ENST00000570201.1_5'UTR|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	367					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTCTTCTTACCTGTTGCTTCA	0.498											OREG0023862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.e9+1		dynein, cytoplasmic 1, light intermediate chain 2							338.0	263.0	289.0					16																	66762943		2201	4300	6501	SO:0001630	splice_region_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66762943C>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1101+1G>T	16.37:g.66762943C>A			OREG0023862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1094	DYNC1LI2_ENST00000443351.2_Splice_Site_p.Q290_splice|DYNC1LI2_ENST00000570201.1_5'UTR|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	p.Q367_splice	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	9	1307	-		Ovarian(137;0.0563)	367					A8K6V1|B4DZP4|Q8TAT3	Splice_Site	SNP	ENST00000258198.2	37	c.1101_splice	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209705	0.95069	.	.	ENSG00000135720	ENST00000258198;ENST00000443351	T;T	0.20200	2.09;2.09	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.53676	-0.8405	9	.	.	.	-19.2098	19.0302	0.92953	0.0:1.0:0.0:0.0	.	290;367	B4DZP4;O43237	.;DC1L2_HUMAN	H	367;290	ENSP00000258198:Q367H;ENSP00000394289:Q290H	.	Q	-	3	2	DYNC1LI2	65320444	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.201000	0.77847	2.731000	0.93534	0.551000	0.68910	CAG		0.498	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141	Missense_Mutation	10	138	1	0	2.80697e-09	1	3.39963e-09	10	138				
PCDHB2	56133	broad.mit.edu	37	5	140475745	140475745	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475745C>A	ENST00000194155.4	+	1	1519	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	457					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAACCTCCTACACCCTGT	0.622																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1369-1371)tcC>tcA									101.0	98.0	99.0					5																	140475745		2203	4297	6500	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475745C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1371C>A	5.37:g.140475745C>A							p.S457S	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1519	+			457					Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1371C>A	CCDS4244.1																																																																																				0.622	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		10	82	1	0	2.74318e-10	1	3.37541e-10	10	82				
ZNF318	24149	broad.mit.edu	37	6	43316061	43316061	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43316061C>T	ENST00000361428.2	-	6	3150		c.e6+1		ZNF318_ENST00000318149.3_Splice_Site	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGAGTTGTTACCTTGTTGGAG	0.368																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.e6+1		zinc finger protein 318							191.0	195.0	193.0					6																	43316061		2203	4300	6503	SO:0001630	splice_region_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316061C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3072+1G>A	6.37:g.43316061C>T						ZNF318_ENST00000318149.3_Splice_Site		NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	3150	-								O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Splice_Site	SNP	ENST00000361428.2	37		CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262150	0.59431	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	4.85	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2962	0.54847	0.0:0.9196:0.0:0.0804	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF318	43424039	1.000000	0.71417	0.988000	0.46212	0.694000	0.40290	6.128000	0.71650	1.370000	0.46153	0.655000	0.94253	.		0.368	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	Intron	66	131	0	0	0	1	0	66	131				
PDE4DIP	9659	broad.mit.edu	37	1	144871767	144871767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871767C>T	ENST00000369354.3	-	32	5384	c.5195G>A	c.(5194-5196)tGt>tAt	p.C1732Y	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1868Y|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1817Y|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1732Y|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1732					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGTCTCACAGCAGCCAAG	0.577			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(5602-5604)tGt>tAt		phosphodiesterase 4D interacting protein							116.0	116.0	116.0					1																	144871767		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871767C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5195G>A	1.37:g.144871767C>T	ENSP00000358360:p.Cys1732Tyr					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1817Y|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1732Y|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1732Y	p.C1868Y			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	35	5641	-			1732					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5603G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588917	0.66105	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01584	4.75;4.75;4.77;4.76	5.97	5.06	0.68205	.	.	.	.	.	T	0.01454	0.0047	L	0.56769	1.78	0.80722	D	1	P	0.44877	0.845	P	0.44732	0.459	T	0.66126	-0.6001	9	0.16420	T	0.52	.	14.4957	0.67685	0.0:0.8346:0.1654:0.0	.	1732	Q5VU43	MYOME_HUMAN	Y	1732;1732;1817;1868	ENSP00000358360:C1732Y;ENSP00000358363:C1732Y;ENSP00000435654:C1817Y;ENSP00000358366:C1868Y	ENSP00000358360:C1732Y	C	-	2	0	PDE4DIP	143583124	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	2.384000	0.44362	1.520000	0.48965	0.650000	0.86243	TGT		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	130	0	0	0	1	0	6	130				
AASDH	132949	broad.mit.edu	37	4	57215453	57215453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57215453T>C	ENST00000205214.6	-	11	2644	c.2464A>G	c.(2464-2466)Aag>Gag	p.K822E	AASDH_ENST00000451613.1_Missense_Mutation_p.K822E|AASDH_ENST00000434343.2_Missense_Mutation_p.K337E|AASDH_ENST00000502617.1_Missense_Mutation_p.K822E|AASDH_ENST00000513376.1_Missense_Mutation_p.K722E|AASDH_ENST00000602986.1_Missense_Mutation_p.K669E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	822					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTCCACACTTAGATACACAT	0.358																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(2464-2466)Aag>Gag		aminoadipate-semialdehyde dehydrogenase							68.0	68.0	68.0					4																	57215453		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215453T>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2464A>G	4.37:g.57215453T>C	ENSP00000205214:p.Lys822Glu					AASDH_ENST00000502617.1_Missense_Mutation_p.K822E|AASDH_ENST00000451613.1_Missense_Mutation_p.K822E|AASDH_ENST00000434343.2_Missense_Mutation_p.K337E|AASDH_ENST00000513376.1_Missense_Mutation_p.K722E|AASDH_ENST00000602986.1_Missense_Mutation_p.K669E	p.K822E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			11	2644	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	822					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2464A>G	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423691	0.43020	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.9	3.62	0.41486	Quinonprotein alcohol dehydrogenase-like (2);	0.954965	0.08860	N	0.883174	T	0.41119	0.1145	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.44195	0.622;0.828;0.682;0.656	B;B;B;B	0.40982	0.217;0.234;0.234;0.345	T	0.23154	-1.0196	10	0.62326	D	0.03	-2.5305	9.61	0.39657	0.0:0.0709:0.1479:0.7813	.	669;822;822;822	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	E	822;722;337;822;669;822	ENSP00000205214:K822E;ENSP00000423760:K722E;ENSP00000392158:K337E;ENSP00000409656:K822E;ENSP00000421171:K822E	ENSP00000205214:K822E	K	-	1	0	AASDH	56910210	0.507000	0.26146	0.999000	0.59377	0.997000	0.91878	1.755000	0.38379	1.067000	0.40740	0.528000	0.53228	AAG		0.358	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		9	92	0	0	0	1	0	9	92				
AVPR2	554	broad.mit.edu	37	X	153171565	153171565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171565G>A	ENST00000358927.2	+	3	814	c.605G>A	c.(604-606)cGt>cAt	p.R202H	AVPR2_ENST00000337474.5_Missense_Mutation_p.R202H|AVPR2_ENST00000370049.1_Missense_Mutation_p.R202H			P30518	V2R_HUMAN	arginine vasopressin receptor 2	202			R -> C (in XNDI). {ECO:0000269|PubMed:7560098}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.R202H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCCTGGGGCCGTCGCACCTAT	0.632																																						ENST00000358927.2																			1	Substitution - Missense(1)	p.R202H(1)	large_intestine(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(604-606)cGt>cAt		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						63.0	57.0	59.0					X																	153171565		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171565G>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.605G>A	X.37:g.153171565G>A	ENSP00000351805:p.Arg202His					AVPR2_ENST00000370049.1_Missense_Mutation_p.R202H|AVPR2_ENST00000337474.5_Missense_Mutation_p.R202H	p.R202H			P30518	V2R_HUMAN			3	814	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		202		R -> C (in XNDI).			C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.605G>A	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	2.406	-0.336395	0.05278	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.71	0.91	0.19337	GPCR, rhodopsin-like superfamily (1);	0.302820	0.31734	N	0.007146	T	0.24624	0.0597	L	0.27053	0.805	0.19300	N	0.999975	P;P	0.49090	0.901;0.919	B;P	0.46026	0.135;0.501	T	0.09400	-1.0676	10	0.56958	D	0.05	-14.0316	4.9043	0.13789	0.0:0.1115:0.3644:0.5241	.	202;202	P30518-2;P30518	.;V2R_HUMAN	H	202	ENSP00000351805:R202H;ENSP00000393513:R202H;ENSP00000338072:R202H;ENSP00000359066:R202H	ENSP00000338072:R202H	R	+	2	0	AVPR2	152824759	0.004000	0.15560	0.979000	0.43373	0.015000	0.08874	1.631000	0.37092	0.416000	0.25844	-1.052000	0.02337	CGT		0.632	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			10	56	0	0	0	1	0	10	56				
MPG	4350	broad.mit.edu	37	16	133123	133123	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:133123C>T	ENST00000219431.4	+	4	619	c.388C>T	c.(388-390)Cca>Tca	p.P130S	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.P113S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	130					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATACCTGGGGCCAGAGGATGA	0.622								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(388-390)Cca>Tca	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							112.0	120.0	117.0					16																	133123		2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133123C>T		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.388C>T	16.37:g.133123C>T	ENSP00000219431:p.Pro130Ser					MPG_ENST00000397817.1_Missense_Mutation_p.P113S	p.P130S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			4	619	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	130					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.388C>T	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009298	0.35415	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.88	2.79	0.32731	Formyl transferase, C-terminal-like (1);	0.110405	0.64402	D	0.000011	T	0.14657	0.0354	L	0.55213	1.73	0.34895	D	0.745925	B;B;B	0.23058	0.079;0.079;0.079	B;B;B	0.24541	0.054;0.054;0.054	T	0.12192	-1.0557	10	0.21014	T	0.42	-20.0785	7.9158	0.29816	0.1368:0.5263:0.3369:0.0	.	113;125;130	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	S	113;113;125;130	ENSP00000388097:P113S;ENSP00000380918:P113S;ENSP00000348809:P125S;ENSP00000219431:P130S	ENSP00000219431:P130S	P	+	1	0	MPG	73123	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	6.696000	0.74598	1.255000	0.44051	0.462000	0.41574	CCA		0.622	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			82	113	0	0	0	1	0	82	113				
SNX20	124460	broad.mit.edu	37	16	50707891	50707891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50707891G>A	ENST00000330943.4	-	4	548	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	126	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTCAGCAGCGCTTTCTGGAG	0.562																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(376-378)gCg>gTg		sorting nexin 20							81.0	73.0	76.0					16																	50707891		2198	4300	6498	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707891G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.377C>T	16.37:g.50707891G>A	ENSP00000332062:p.Ala126Val					SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	p.A126V	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	548	-			126			PX.		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.377C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	9.690	1.151584	0.21371	.	.	ENSG00000167208	ENST00000330943	T	0.39592	1.07	5.53	-7.27	0.01461	Phox homologous domain (5);	1.170640	0.05870	N	0.624431	T	0.22085	0.0532	N	0.26092	0.79	0.09310	N	1	P	0.36733	0.567	B	0.28465	0.09	T	0.13575	-1.0504	10	0.29301	T	0.29	-1.7733	9.1687	0.37067	0.0:0.4352:0.304:0.2608	.	126	Q7Z614	SNX20_HUMAN	V	126	ENSP00000332062:A126V	ENSP00000332062:A126V	A	-	2	0	SNX20	49265392	0.008000	0.16893	0.000000	0.03702	0.126000	0.20510	0.169000	0.16641	-1.682000	0.01446	0.561000	0.74099	GCG		0.562	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		5	57	0	0	0	1	0	5	57				
CHCHD5	84269	broad.mit.edu	37	2	113343902	113343902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343902C>T	ENST00000324913.5	+	3	476	c.269C>T	c.(268-270)gCt>gTt	p.A90V	CHCHD5_ENST00000409719.1_Missense_Mutation_p.A90V|CHCHD5_ENST00000489052.1_3'UTR|AC012442.5_ENST00000414784.1_RNA	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	90	CHCH.					mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CTGCAGTGCGCTGAGCAGGTG	0.577																																						ENST00000409719.1																			0				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						c.(268-270)gCt>gTt		coiled-coil-helix-coiled-coil-helix domain containing 5							48.0	47.0	47.0					2																	113343902		2203	4300	6503	SO:0001583	missense	84269							g.chr2:113343902C>T	BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.269C>T	2.37:g.113343902C>T	ENSP00000325655:p.Ala90Val					CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Missense_Mutation_p.A90V	p.A90V			Q9BSY4	CHCH5_HUMAN			3	322	+			90			CHCH.		Q585T4|Q8N8C4	Missense_Mutation	SNP	ENST00000324913.5	37	c.269C>T	CCDS2098.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094361	0.36952	.	.	ENSG00000125611	ENST00000324913;ENST00000409719	T;T	0.74106	-0.81;2.28	4.49	3.61	0.41365	CHCH (1);	0.087877	0.47455	D	0.000229	T	0.57651	0.2068	N	0.12746	0.255	0.37582	D	0.919869	B;B	0.33171	0.4;0.091	B;B	0.36567	0.228;0.054	T	0.62932	-0.6749	10	0.46703	T	0.11	-3.8916	10.5257	0.44948	0.0:0.9047:0.0:0.0953	.	90;90	Q8N8C4;Q9BSY4	.;CHCH5_HUMAN	V	90	ENSP00000325655:A90V;ENSP00000386994:A90V	ENSP00000325655:A90V	A	+	2	0	CHCHD5	113060373	0.987000	0.35691	0.562000	0.28370	0.460000	0.32559	2.869000	0.48444	1.263000	0.44181	-0.136000	0.14681	GCT		0.577	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254081.2	NM_032309		12	26	0	0	0	1	0	12	26				
MPEG1	219972	broad.mit.edu	37	11	58979412	58979412	+	Silent	SNP	C	C	T	rs562894677		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58979412C>T	ENST00000361050.3	-	1	1012	c.927G>A	c.(925-927)ccG>ccA	p.P309P	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	309	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGAAATGCAGCGGCAGGCCAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19196	0.0		0.0	False		,,,				2504	0.001					ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(925-927)ccG>ccA		macrophage expressed 1							31.0	30.0	31.0					11																	58979412		1882	4068	5950	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58979412C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.927G>A	11.37:g.58979412C>T							p.P309P	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1012	-		all_epithelial(135;0.125)	309			MACPF.		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.927G>A	CCDS41650.1																																																																																				0.557	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		9	20	0	0	0	1	0	9	20				
ZCWPW1	55063	broad.mit.edu	37	7	100016806	100016806	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100016806A>C	ENST00000398027.2	-	5	536	c.289T>G	c.(289-291)Tca>Gca	p.S97A	ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S97A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	97							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAAGACTTGATTTTTCCTGC	0.453																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(289-291)Tca>Gca		zinc finger, CW type with PWWP domain 1							116.0	108.0	111.0					7																	100016806		1884	4103	5987	SO:0001583	missense	55063						zinc ion binding	g.chr7:100016806A>C	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.289T>G	7.37:g.100016806A>C	ENSP00000381109:p.Ser97Ala					ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S97A|ZCWPW1_ENST00000324725.6_5'UTR	p.S97A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			5	536	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		97					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.289T>G	CCDS43623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.13|13.13	2.145882|2.145882	0.37923|0.37923	.|.	.|.	ENSG00000078487|ENSG00000078487	ENST00000472716|ENST00000398027;ENST00000360951;ENST00000379559	.|T;T	.|0.45668	.|0.9;0.89	5.59|5.59	-1.65|-1.65	0.08291|0.08291	.|.	.|1.073310	.|0.07334	.|N	.|0.879678	T|T	0.28665|0.28665	0.0710|0.0710	L|L	0.48642|0.48642	1.525|1.525	0.22719|0.22719	N|N	0.998812|0.998812	.|B;B;B;B	.|0.26744	.|0.004;0.158;0.062;0.062	.|B;B;B;B	.|0.22880	.|0.011;0.042;0.024;0.024	T|T	0.26950|0.26950	-1.0088|-1.0088	5|9	.|.	.|.	.|.	0.1006|0.1006	1.6227|1.6227	0.02716|0.02716	0.2726:0.156:0.0915:0.4799|0.2726:0.156:0.0915:0.4799	.|.	.|97;97;97;97	.|B4E3W9;B4DUQ2;C9J435;Q9H0M4	.|.;.;.;ZCPW1_HUMAN	K|A	26|97	.|ENSP00000381109:S97A;ENSP00000354210:S97A	.|.	N|S	-|-	3|1	2|0	ZCWPW1|ZCWPW1	99854742|99854742	0.003000|0.003000	0.15002|0.15002	0.974000|0.974000	0.42286|0.42286	0.690000|0.690000	0.40134|0.40134	-0.746000|-0.746000	0.04829|0.04829	0.066000|0.066000	0.16515|0.16515	0.460000|0.460000	0.39030|0.39030	AAT|TCA		0.453	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		33	85	0	0	0	1	0	33	85				
FAM134A	79137	broad.mit.edu	37	2	220045793	220045793	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220045793T>C	ENST00000430297.2	+	6	786	c.650T>C	c.(649-651)aTc>aCc	p.I217T	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	217						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTTGAGTATCCTGCTGTGG	0.512																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(649-651)aTc>aCc		family with sequence similarity 134, member A							141.0	135.0	137.0					2																	220045793		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220045793T>C	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.650T>C	2.37:g.220045793T>C	ENSP00000395249:p.Ile217Thr						p.I217T	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	786	+		Renal(207;0.0915)	217					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.650T>C	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311843	0.81358	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T;T	0.43688	0.94;0.94;0.94	5.32	5.32	0.75619	.	0.060248	0.64402	D	0.000001	T	0.45377	0.1339	N	0.22421	0.69	0.54753	D	0.999989	D;D	0.58970	0.98;0.984	P;P	0.57204	0.737;0.815	T	0.42531	-0.9446	10	0.45353	T	0.12	-10.5037	15.2853	0.73822	0.0:0.0:0.0:1.0	.	10;217	E7EUL4;Q8NC44	.;F134A_HUMAN	T	10;217;10;10	ENSP00000403898:I10T;ENSP00000395249:I217T;ENSP00000391284:I10T	ENSP00000395249:I217T	I	+	2	0	FAM134A	219754037	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.000000	0.88501	2.005000	0.58758	0.533000	0.62120	ATC		0.512	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		11	127	0	0	0	1	0	11	127				
TRIM5	85363	broad.mit.edu	37	11	5688922	5688922	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5688922T>G	ENST00000380034.3	-	5	1020	c.764A>C	c.(763-765)aAa>aCa	p.K255T	TRIM5_ENST00000396855.3_Missense_Mutation_p.K255T|TRIM5_ENST00000396847.3_Missense_Mutation_p.K255T|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Missense_Mutation_p.K255T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	255					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CACATACCTTTTTATGACGCC	0.408																																						ENST00000396847.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(763-765)aAa>aCa		tripartite motif containing 5							137.0	123.0	128.0					11																	5688922		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5688922T>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.764A>C	11.37:g.5688922T>G	ENSP00000369373:p.Lys255Thr					TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.K255T|TRIM5_ENST00000380027.1_Missense_Mutation_p.K255T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Missense_Mutation_p.K255T	p.K255T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	5	999	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	255					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.764A>C	CCDS31393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.731|9.731	1.162218|1.162218	0.21538|0.21538	.|.	.|.	ENSG00000132256|ENSG00000132256	ENST00000438025|ENST00000396855;ENST00000380034;ENST00000380027;ENST00000396847	T|T;T;T;T	0.04758|0.04706	3.56|3.57;3.57;3.57;3.57	3.6|3.6	-0.819|-0.819	0.10829|0.10829	.|.	4.295810|4.295810	0.00610|0.00610	N|N	0.000403|0.000403	T|T	0.08935|0.08935	0.0221|0.0221	L|L	0.60957|0.60957	1.885|1.885	0.09310|0.09310	N|N	0.999995|0.999995	.|B;B;B	.|0.29936	.|0.197;0.01;0.262	.|B;B;B	.|0.36418	.|0.06;0.025;0.224	T|T	0.39981|0.39981	-0.9587|-0.9587	8|10	0.66056|0.52906	D|T	0.02|0.07	.|.	6.6016|6.6016	0.22703|0.22703	0.0:0.4429:0.0:0.5571|0.0:0.4429:0.0:0.5571	.|.	.|255;255;255	.|Q9C035-3;Q9C035-4;Q9C035	.|.;.;TRIM5_HUMAN	Q|T	132|255	ENSP00000398196:K132Q|ENSP00000380064:K255T;ENSP00000369373:K255T;ENSP00000369366:K255T;ENSP00000380058:K255T	ENSP00000398196:K132Q|ENSP00000369366:K255T	K|K	-|-	1|2	0|0	TRIM5|TRIM5	5645498|5645498	0.826000|0.826000	0.29277|0.29277	0.044000|0.044000	0.18714|0.18714	0.128000|0.128000	0.20619|0.20619	1.405000|1.405000	0.34635|0.34635	-0.146000|-0.146000	0.11274|0.11274	0.454000|0.454000	0.30748|0.30748	AAA|AAA		0.408	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		25	47	0	0	0	1	0	25	47				
ADAM33	80332	broad.mit.edu	37	20	3653192	3653192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3653192G>A	ENST00000356518.2	-	13	1634	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	ADAM33_ENST00000379861.4_Missense_Mutation_p.R465C|ADAM33_ENST00000350009.2_Missense_Mutation_p.R465C|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	465	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACCAGGCAGCGCACGCAGCAG	0.657																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1393-1395)Cgc>Tgc		ADAM metallopeptidase domain 33							41.0	46.0	44.0					20																	3653192		2182	4242	6424	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3653192G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1393C>T	20.37:g.3653192G>A	ENSP00000348912:p.Arg465Cys					ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.R465C|ADAM33_ENST00000350009.2_Missense_Mutation_p.R465C	p.R465C	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			13	1634	-			465			Disintegrin.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1393C>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.942106	0.53079	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.12039	2.72;2.72;2.72	4.28	-0.214	0.13161	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	.	.	.	.	T	0.21267	0.0512	M	0.71036	2.16	0.09310	N	0.999997	D;D;D	0.56968	0.972;0.978;0.978	P;P;P	0.49301	0.471;0.606;0.606	T	0.12451	-1.0547	9	0.72032	D	0.01	.	8.4187	0.32687	0.0:0.2493:0.243:0.5077	.	465;465;465	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	C	465;465;465;345	ENSP00000348912:R465C;ENSP00000369190:R465C;ENSP00000322550:R465C	ENSP00000322550:R465C	R	-	1	0	ADAM33	3601192	0.000000	0.05858	0.938000	0.37757	0.568000	0.35870	-0.662000	0.05305	-0.172000	0.10779	0.457000	0.33378	CGC		0.657	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		21	31	0	0	0	1	0	21	31				
GLDC	2731	broad.mit.edu	37	9	6540085	6540085	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6540085C>T	ENST00000321612.6	-	22	2781	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	877					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CATCCACAGCCTCAATATTTG	0.458																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2629-2631)gaG>gaA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						136.0	120.0	125.0					9																	6540085		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540085C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2631G>A	9.37:g.6540085C>T							p.E877E	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2781	-		Acute lymphoblastic leukemia(23;0.161)	877					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.2631G>A	CCDS34987.1																																																																																				0.458	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		30	50	0	0	0	1	0	30	50				
WDFY3	23001	broad.mit.edu	37	4	85612936	85612936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85612936G>A	ENST00000295888.4	-	60	9459	c.9052C>T	c.(9052-9054)Ctc>Ttc	p.L3018F	WDFY3_ENST00000322366.6_Missense_Mutation_p.L3001F	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3018	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTTCTTTGAGTTCTAGAAAA	0.338																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9001-9003)Ctc>Ttc		WD repeat and FYVE domain containing 3							48.0	49.0	49.0					4																	85612936		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85612936G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9052C>T	4.37:g.85612936G>A	ENSP00000295888:p.Leu3018Phe					WDFY3_ENST00000295888.4_Missense_Mutation_p.L3018F	p.L3001F			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	59	9408	-		Hepatocellular(203;0.114)	3018					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9001C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463640	0.84425	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.37752	1.18;1.18;1.18	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	M	0.79926	2.475	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.55256	-0.8169	10	0.33940	T	0.23	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	3018	Q8IZQ1	WDFY3_HUMAN	F	3001;3018;621	ENSP00000318466:L3001F;ENSP00000295888:L3018F;ENSP00000424987:L621F	ENSP00000295888:L3018F	L	-	1	0	WDFY3	85831960	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.952000	0.87827	2.746000	0.94184	0.655000	0.94253	CTC		0.338	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		15	31	0	0	0	1	0	15	31				
MGAT1	4245	broad.mit.edu	37	5	180218899	180218899	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218899A>G	ENST00000446023.2	-	3	1823	c.1073T>C	c.(1072-1074)tTc>tCc	p.F358S	MGAT1_ENST00000393340.3_Missense_Mutation_p.F358S|MGAT1_ENST00000307826.4_Missense_Mutation_p.F358S|MGAT1_ENST00000333055.3_Missense_Mutation_p.F358S|MGAT1_ENST00000427865.2_Missense_Mutation_p.F358S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	358					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGCGAGGAAATCTCGGTC	0.587																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(1072-1074)tTc>tCc		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							73.0	75.0	74.0					5																	180218899		2203	4300	6503	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180218899A>G	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1073T>C	5.37:g.180218899A>G	ENSP00000404718:p.Phe358Ser					MGAT1_ENST00000333055.3_Missense_Mutation_p.F358S|MGAT1_ENST00000427865.2_Missense_Mutation_p.F358S|MGAT1_ENST00000307826.4_Missense_Mutation_p.F358S|MGAT1_ENST00000393340.3_Missense_Mutation_p.F358S	p.F358S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1823	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	358					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.1073T>C	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081700	0.36758	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.93549	0.7941	M	0.87381	2.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.94380	0.7604	10	0.87932	D	0	-16.993	12.5172	0.56038	1.0:0.0:0.0:0.0	.	358	P26572	MGAT1_HUMAN	S	358;358;358;358;215;358	ENSP00000332073:F358S;ENSP00000311888:F358S;ENSP00000404718:F358S;ENSP00000377010:F358S;ENSP00000402838:F358S	ENSP00000311888:F358S	F	-	2	0	MGAT1	180151505	1.000000	0.71417	0.982000	0.44146	0.036000	0.12997	8.170000	0.89673	2.118000	0.64928	0.533000	0.62120	TTC		0.587	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		4	60	0	0	0	1	0	4	60				
KCNJ16	3773	broad.mit.edu	37	17	68129430	68129430	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129430C>A	ENST00000589377.1	+	2	1365	c.1202C>A	c.(1201-1203)cCt>cAt	p.P401H	KCNJ16_ENST00000586462.1_Missense_Mutation_p.P440H|KCNJ16_ENST00000585558.1_Missense_Mutation_p.P436H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P401H	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	401					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGGGAAACACCTTATCAGAAA	0.428																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(1306-1308)cCt>cAt		potassium inwardly-rectifying channel, subfamily J, member 16							78.0	71.0	74.0					17																	68129430		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129430C>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.1202C>A	17.37:g.68129430C>A	ENSP00000465967:p.Pro401His					KCNJ16_ENST00000392671.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P440H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P401H	p.P436H			Q9NPI9	IRK16_HUMAN			4	1695	+	Breast(10;2.96e-09)		401						Missense_Mutation	SNP	ENST00000589377.1	37	c.1307C>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	7.369	0.626521	0.14257	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.89196	-2.48;-2.48;-2.48	5.8	5.8	0.92144	.	0.466719	0.21475	N	0.073921	T	0.81059	0.4744	N	0.19112	0.55	0.29122	N	0.880179	B;B	0.16166	0.016;0.002	B;B	0.14578	0.011;0.001	T	0.68792	-0.5315	9	.	.	.	.	14.487	0.67624	0.147:0.853:0.0:0.0	.	401;401	A8K434;Q9NPI9	.;IRK16_HUMAN	H	401	ENSP00000283936:P401H;ENSP00000376439:P401H;ENSP00000376438:P401H	.	P	+	2	0	KCNJ16	65641025	0.112000	0.22096	0.983000	0.44433	0.331000	0.28603	2.263000	0.43293	2.736000	0.93811	0.591000	0.81541	CCT		0.428	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		5	60	1	0	1	1	1	5	60				
SNRNP70	6625	broad.mit.edu	37	19	49593547	49593547	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593547G>T	ENST00000598441.1	+	3	371		c.e3-1		SNRNP70_ENST00000221448.5_Splice_Site			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTTGTTCCCAGGACCCTCGAG	0.552																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.e3-1		small nuclear ribonucleoprotein 70kDa (U1)							77.0	65.0	69.0					19																	49593547		2203	4300	6503	SO:0001630	splice_region_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49593547G>T		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.148-1G>T	19.37:g.49593547G>T						SNRNP70_ENST00000598441.1_Splice_Site		NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			3	343	+								B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Splice_Site	SNP	ENST00000598441.1	37		CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205302	0.79127	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5516	0.76158	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRNP70	54285359	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.695000	0.91298	2.824000	0.97209	0.655000	0.94253	.		0.552	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089	Intron	17	22	1	0	2.4624e-09	1	2.98951e-09	17	22				
MARS	4141	broad.mit.edu	37	12	57891963	57891963	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891963A>C	ENST00000262027.5	+	8	928	c.794A>C	c.(793-795)aAt>aCt	p.N265T	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.N31T	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	265					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGAGAAAGGAATGTGCTCATC	0.537																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(793-795)aAt>aCt		methionyl-tRNA synthetase	L-Methionine(DB00134)						177.0	128.0	145.0					12																	57891963		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57891963A>C	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.794A>C	12.37:g.57891963A>C	ENSP00000262027:p.Asn265Thr					MARS_ENST00000315473.5_Missense_Mutation_p.N31T|MARS_ENST00000447721.2_3'UTR	p.N265T	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		8	928	+			265					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.794A>C	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657248	0.88154	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.46451	1.37;0.87	4.7	4.7	0.59300	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.992;0.98;0.99	T	0.61926	-0.6962	10	0.72032	D	0.01	-15.8906	11.9918	0.53180	1.0:0.0:0.0:0.0	.	31;138;265	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	T	265;31	ENSP00000262027:N265T;ENSP00000314653:N31T	ENSP00000262027:N265T	N	+	2	0	MARS	56178230	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.237000	0.89807	1.884000	0.54569	0.459000	0.35465	AAT		0.537	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		6	50	0	0	0	1	0	6	50				
FERMT3	83706	broad.mit.edu	37	11	63990590	63990590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990590G>A	ENST00000279227.5	+	14	1848	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Missense_Mutation_p.V581M	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	585					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGACTTGGCCGTGGGCGACGT	0.612																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1753-1755)Gtg>Atg		fermitin family member 3							110.0	83.0	92.0					11																	63990590		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990590G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1753G>A	11.37:g.63990590G>A	ENSP00000279227:p.Val585Met					FERMT3_ENST00000345728.5_Missense_Mutation_p.V581M	p.V585M	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			14	1848	+			585					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1753G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224942	0.79576	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.76578	-1.03;-1.03;-1.03	5.19	3.32	0.38043	Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.66548	0.2800	L	0.51422	1.61	0.48395	D	0.999641	P;P	0.41624	0.757;0.643	B;B	0.30029	0.11;0.051	T	0.67696	-0.5604	10	0.87932	D	0	-18.3912	10.764	0.46281	0.1588:0.0:0.8412:0.0	.	581;585	Q86UX7-2;Q86UX7	.;URP2_HUMAN	M	581;585;102	ENSP00000339950:V581M;ENSP00000279227:V585M;ENSP00000440209:V102M	ENSP00000279227:V585M	V	+	1	0	FERMT3	63747166	1.000000	0.71417	0.878000	0.34440	0.980000	0.70556	4.546000	0.60705	0.700000	0.31782	0.561000	0.74099	GTG		0.612	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		34	48	0	0	0	1	0	34	48				
TEX10	54881	broad.mit.edu	37	9	103111563	103111563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103111563G>A	ENST00000374902.4	-	2	259	c.83C>T	c.(82-84)gCt>gTt	p.A28V	TEX10_ENST00000535814.1_Missense_Mutation_p.A31V|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	28						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAGGAGTAGCATTTTGTAA	0.318																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(82-84)gCt>gTt		testis expressed 10							158.0	148.0	151.0					9																	103111563		2203	4299	6502	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103111563G>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.83C>T	9.37:g.103111563G>A	ENSP00000364037:p.Ala28Val					TEX10_ENST00000537512.1_Intron|TEX10_ENST00000535814.1_Missense_Mutation_p.A31V	p.A28V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	2	259	-		Acute lymphoblastic leukemia(62;0.0527)	28					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.83C>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113742	0.20795	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.51	5.51	0.81932	.	0.098210	0.64402	D	0.000001	T	0.46521	0.1397	N	0.25890	0.77	0.80722	D	1	D;D;P	0.58620	0.983;0.973;0.852	P;P;B	0.50405	0.606;0.64;0.213	T	0.25117	-1.0141	9	0.20046	T	0.44	-10.3475	12.7162	0.57117	0.0752:0.0:0.9248:0.0	.	31;28;28	B4DYV2;B4DQR0;Q9NXF1	.;.;TEX10_HUMAN	V	31;28;28	.	ENSP00000364037:A28V	A	-	2	0	TEX10	102151384	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	4.823000	0.62694	2.583000	0.87209	0.655000	0.94253	GCT		0.318	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		12	27	0	0	0	1	0	12	27				
BSN	8927	broad.mit.edu	37	3	49694644	49694644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694644G>A	ENST00000296452.4	+	5	7769	c.7655G>A	c.(7654-7656)gGc>gAc	p.G2552D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2552					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCGTAGTGGCATCAAGAAG	0.637																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(7654-7656)gGc>gAc		bassoon presynaptic cytomatrix protein							52.0	49.0	50.0					3																	49694644		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694644G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7655G>A	3.37:g.49694644G>A	ENSP00000296452:p.Gly2552Asp						p.G2552D	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7769	+			2552					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7655G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	5.771	0.326615	0.10900	.	.	ENSG00000164061	ENST00000296452	T	0.17528	2.27	5.82	4.92	0.64577	.	0.741235	0.13540	N	0.380262	T	0.16981	0.0408	L	0.40543	1.245	0.24428	N	0.994582	P	0.41366	0.747	B	0.37650	0.255	T	0.06534	-1.0821	10	0.41790	T	0.15	-6.2249	14.6621	0.68879	0.0:0.2765:0.7235:0.0	.	2552	Q9UPA5	BSN_HUMAN	D	2552	ENSP00000296452:G2552D	ENSP00000296452:G2552D	G	+	2	0	BSN	49669648	0.218000	0.23608	0.316000	0.25252	0.786000	0.44442	1.860000	0.39428	1.400000	0.46741	0.561000	0.74099	GGC		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	25	0	0	0	1	0	12	25				
RAB11FIP1	80223	broad.mit.edu	37	8	37728878	37728878	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37728878G>C	ENST00000330843.4	-	4	3454	c.3442C>G	c.(3442-3444)Ctc>Gtc	p.L1148V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1148					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCTGGAGGAGTGGCTTCCTC	0.552											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3442-3444)Ctc>Gtc		RAB11 family interacting protein 1 (class I)							91.0	97.0	95.0					8																	37728878		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728878G>C	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3442C>G	8.37:g.37728878G>C	ENSP00000331342:p.Leu1148Val		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	p.L1148V	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3454	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1148					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3442C>G	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336829	0.60963	.	.	ENSG00000156675	ENST00000330843	T	0.18502	2.21	5.29	5.29	0.74685	.	0.156832	0.29579	N	0.011751	T	0.29817	0.0745	L	0.47716	1.5	0.80722	D	1	D;P	0.63046	0.992;0.698	P;B	0.59889	0.865;0.375	T	0.00601	-1.1650	10	0.30854	T	0.27	-5.1577	14.4539	0.67404	0.0:0.0:1.0:0.0	.	477;1148	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	V	1148	ENSP00000331342:L1148V	ENSP00000331342:L1148V	L	-	1	0	RAB11FIP1	37848036	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.888000	0.48594	2.475000	0.83589	0.555000	0.69702	CTC		0.552	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		37	66	0	0	0	1	0	37	66				
DHX38	9785	broad.mit.edu	37	16	72130083	72130083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72130083G>A	ENST00000268482.3	+	2	536	c.27G>A	c.(25-27)tcG>tcA	p.S9S	TXNL4B_ENST00000268483.3_5'Flank|DHX38_ENST00000536867.1_Silent_p.S9S|TXNL4B_ENST00000426362.2_5'Flank|TXNL4B_ENST00000423037.1_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	9					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGGATGCCTCGATCCATCGAT	0.517																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(25-27)tcG>tcA		DEAH (Asp-Glu-Ala-His) box polypeptide 38							84.0	65.0	71.0					16																	72130083		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130083G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.27G>A	16.37:g.72130083G>A						DHX38_ENST00000536867.1_Silent_p.S9S	p.S9S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			2	536	+		Ovarian(137;0.125)	9					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.27G>A	CCDS10907.1																																																																																				0.517	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		19	32	0	0	0	1	0	19	32				
ZRANB1	54764	broad.mit.edu	37	10	126662837	126662837	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126662837T>C	ENST00000359653.4	+	5	1668	c.1297T>C	c.(1297-1299)Tat>Cat	p.Y433H		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	433	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAGTCGACTGTATGCACTTTG	0.438																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1297-1299)Tat>Cat		zinc finger, RAN-binding domain containing 1							152.0	141.0	145.0					10																	126662837		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126662837T>C	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1297T>C	10.37:g.126662837T>C	ENSP00000352676:p.Tyr433His						p.Y433H	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	5	1668	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	433			OTU.|TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1297T>C	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.169794	0.57584	.	.	ENSG00000019995	ENST00000359653	T	0.18810	2.19	5.74	5.74	0.90152	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	L	0.29908	0.895	0.80722	D	1	B	0.29270	0.24	B	0.23018	0.043	T	0.04767	-1.0928	10	0.27082	T	0.32	-31.2392	16.0421	0.80691	0.0:0.0:0.0:1.0	.	433	Q9UGI0	ZRAN1_HUMAN	H	433	ENSP00000352676:Y433H	ENSP00000352676:Y433H	Y	+	1	0	ZRANB1	126652827	1.000000	0.71417	0.917000	0.36280	0.937000	0.57800	8.018000	0.88722	2.192000	0.70111	0.533000	0.62120	TAT		0.438	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		38	68	0	0	0	1	0	38	68				
GIF	2694	broad.mit.edu	37	11	59604792	59604792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59604792C>T	ENST00000257248.2	-	6	773	c.726G>A	c.(724-726)aaG>aaA	p.K242K	GIF_ENST00000541311.1_Silent_p.K217K	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	242					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AGTTCCATTCCTTTTTAGATG	0.448																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(649-651)aaG>aaA		gastric intrinsic factor (vitamin B synthesis)							174.0	159.0	164.0					11																	59604792		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59604792C>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.726G>A	11.37:g.59604792C>T						GIF_ENST00000257248.2_Silent_p.K242K	p.K217K			P27352	IF_HUMAN			6	885	-			242					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.651G>A	CCDS7977.1																																																																																				0.448	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		18	25	0	0	0	1	0	18	25				
UBN2	254048	broad.mit.edu	37	7	138969195	138969195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969195G>A	ENST00000473989.3	+	15	3544	c.3544G>A	c.(3544-3546)Gga>Aga	p.G1182R	UBN2_ENST00000288561.8_Missense_Mutation_p.G1099R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1182	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAACTCAAGCGGAGCTAATAG	0.493																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3295-3297)Gga>Aga		ubinuclein 2							71.0	73.0	73.0					7																	138969195		1970	4159	6129	SO:0001583	missense	254048							g.chr7:138969195G>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3544G>A	7.37:g.138969195G>A	ENSP00000418648:p.Gly1182Arg					UBN2_ENST00000473989.2_Missense_Mutation_p.G1182R	p.G1099R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3544	+			1182			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3295G>A	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303683	0.60305	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.34472	1.36;1.42	5.64	4.75	0.60458	.	0.364301	0.26923	N	0.021819	T	0.33731	0.0873	N	0.22421	0.69	0.32895	D	0.512377	D	0.64830	0.994	P	0.52646	0.705	T	0.47736	-0.9094	10	0.51188	T	0.08	-4.2228	9.6475	0.39877	0.0711:0.0:0.7881:0.1408	.	1182	Q6ZU65	UBN2_HUMAN	R	1182;1099	ENSP00000418648:G1182R;ENSP00000288561:G1099R	ENSP00000288561:G1099R	G	+	1	0	UBN2	138619735	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.065000	0.49994	1.505000	0.48720	0.557000	0.71058	GGA		0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		34	26	0	0	0	1	0	34	26				
GPR32	2854	broad.mit.edu	37	19	51274326	51274326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274326C>T	ENST00000270590.4	+	1	606	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	157					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACTGTGCAGCGGGCGAGCTG	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(469-471)Cgg>Tgg		G protein-coupled receptor 32							88.0	91.0	90.0					19																	51274326		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274326C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.469C>T	19.37:g.51274326C>T	ENSP00000270590:p.Arg157Trp						p.R157W	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	606	+		all_neural(266;0.131)	157					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.469C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637117	0.29157	.	.	ENSG00000142511	ENST00000270590	T	0.41065	1.01	2.73	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.52354	0.1729	L	0.48935	1.535	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.33701	-0.9858	9	0.48119	T	0.1	.	8.0568	0.30610	0.0:0.8622:0.0:0.1378	.	157	O75388	GPR32_HUMAN	W	157	ENSP00000270590:R157W	ENSP00000270590:R157W	R	+	1	2	GPR32	55966138	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.954000	0.29175	0.419000	0.25927	0.313000	0.20887	CGG		0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			7	63	0	0	0	1	0	7	63				
CDK1	983	broad.mit.edu	37	10	62545441	62545441	+	Nonsense_Mutation	SNP	C	C	T	rs11540347		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:62545441C>T	ENST00000395284.3	+	4	356	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CDK1_ENST00000373809.2_Nonsense_Mutation_p.Q72*|CDK1_ENST00000448257.2_Nonsense_Mutation_p.Q72*|CDK1_ENST00000316629.4_Nonsense_Mutation_p.Q72*	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						TGTGCTTATGCAGGATTCCAG	0.368																																						ENST00000448257.2																			0				ovary(1)	1						c.(214-216)Cag>Tag		cyclin-dependent kinase 1							207.0	215.0	212.0					10																	62545441		2203	4300	6503	SO:0001587	stop_gained	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62545441C>T	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.214C>T	10.37:g.62545441C>T	ENSP00000378699:p.Gln72*					CDK1_ENST00000316629.4_Nonsense_Mutation_p.Q72*|CDK1_ENST00000373809.2_Nonsense_Mutation_p.Q72*|CDK1_ENST00000395284.3_Nonsense_Mutation_p.Q72*	p.Q72*			P06493	CDK1_HUMAN			4	415	+			72			Protein kinase.		A8K7C4|C9J497|O60764	Nonsense_Mutation	SNP	ENST00000395284.3	37	c.214C>T	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	C	38	6.883533	0.97908	.	.	ENSG00000170312	ENST00000519078;ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	.	.	.	6.04	5.11	0.69529	.	0.047736	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.9623	16.801	0.85614	0.1292:0.8708:0.0:0.0	rs11540347	.	.	.	X	72	.	ENSP00000325970:Q72X	Q	+	1	0	CDK1	62215447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.034000	0.70933	2.873000	0.98535	0.563000	0.77884	CAG		0.368	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		24	203	0	0	0	1	0	24	203				
BRD3	8019	broad.mit.edu	37	9	136901413	136901413	+	Silent	SNP	G	G	T	rs187775678		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901413G>T	ENST00000303407.7	-	10	1862	c.1677C>A	c.(1675-1677)gcC>gcA	p.A559A	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	559					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGTCGTAGGAGGCAGATGCCT	0.612			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1675-1677)gcC>gcA		bromodomain containing 3							63.0	59.0	60.0					9																	136901413		2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136901413G>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1677C>A	9.37:g.136901413G>T						BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	p.A559A	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	10	1862	-			559					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.1677C>A	CCDS6980.1																																																																																				0.612	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		4	41	1	0	0.000602214	1	0.000649039	4	41				
ATP2A2	488	broad.mit.edu	37	12	110784072	110784072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110784072G>A	ENST00000539276.2	+	20	3035	c.2926G>A	c.(2926-2928)Gtg>Atg	p.V976M	ATP2A2_ENST00000395494.2_Missense_Mutation_p.V949M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V976M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	976					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTCCTTGCCCGTGATTCTCAT	0.557																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2845-2847)Gtg>Atg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							108.0	97.0	101.0					12																	110784072		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110784072G>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2926G>A	12.37:g.110784072G>A	ENSP00000440045:p.Val976Met					ATP2A2_ENST00000539276.2_Missense_Mutation_p.V976M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V976M	p.V949M			P16615	AT2A2_HUMAN			19	3408	+			976					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2845G>A	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311420|4.311420	0.81358|0.81358	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.95918	.|-3.85;-3.85;-3.85	6.17|6.17	6.17|6.17	0.99709|0.99709	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98295|0.98295	0.9435|0.9435	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.77557	.|0.99;0.93;0.958	D|D	0.98338|0.98338	1.0537|1.0537	5|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|949;976;976	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	H|M	866|976;949;976	.|ENSP00000311186:V976M;ENSP00000378872:V949M;ENSP00000440045:V976M	.|ENSP00000311186:V976M	R|V	+|+	2|1	0|0	ATP2A2|ATP2A2	109268455|109268455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.557	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		31	54	0	0	0	1	0	31	54				
ACAD9	28976	broad.mit.edu	37	3	128627876	128627876	+	Silent	SNP	C	C	T	rs143991763		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128627876C>T	ENST00000308982.7	+	14	1500	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	473						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCTTCGGGACTCCCTGGGCC	0.587																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1417-1419)gaC>gaT		acyl-CoA dehydrogenase family, member 9							65.0	60.0	62.0					3																	128627876		2203	4300	6503	SO:0001819	synonymous_variant	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128627876C>T	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1419C>T	3.37:g.128627876C>T						ACAD9_ENST00000511526.1_3'UTR	p.D473D	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			14	1500	+			473					D3DNB8|Q8WXX3	Silent	SNP	ENST00000308982.7	37	c.1419C>T	CCDS3053.1																																																																																				0.587	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		12	19	0	0	0	1	0	12	19				
ANK3	288	broad.mit.edu	37	10	61828939	61828939	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61828939G>T	ENST00000280772.2	-	37	11891	c.11700C>A	c.(11698-11700)gcC>gcA	p.A3900A	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3900					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTAGTAAGGGCTTTGGTTT	0.393																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11698-11700)gcC>gcA		ankyrin 3, node of Ranvier (ankyrin G)							253.0	245.0	248.0					10																	61828939		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828939G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11700C>A	10.37:g.61828939G>T						ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.A3900A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11891	-			3900					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.11700C>A	CCDS7258.1																																																																																				0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		25	218	1	0	2.39556e-15	1	3.07139e-15	25	218				
GRIA4	2893	broad.mit.edu	37	11	105623793	105623793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105623793G>A	ENST00000530497.1	+	3	334	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	GRIA4_ENST00000393127.2_Missense_Mutation_p.A112T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A112T|GRIA4_ENST00000428631.2_Missense_Mutation_p.A112T|GRIA4_ENST00000393125.2_Missense_Mutation_p.A112T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A112T			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	112					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATTCTGCAGCGCCTTACATAT	0.463																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(334-336)Gcc>Acc		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						166.0	138.0	147.0					11																	105623793		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105623793G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.334G>A	11.37:g.105623793G>A	ENSP00000435775:p.Ala112Thr					GRIA4_ENST00000393125.2_Missense_Mutation_p.A112T|GRIA4_ENST00000530497.1_Missense_Mutation_p.A112T|GRIA4_ENST00000428631.2_Missense_Mutation_p.A112T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A112T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A112T	p.A112T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	780	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	112					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.334G>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700068	0.48307	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000004	D	0.84433	0.5471	N	0.13043	0.29	0.80722	D	1	D;D;D;D	0.89917	0.973;1.0;1.0;0.984	B;D;D;P	0.91635	0.435;0.998;0.999;0.65	D	0.83905	0.0292	10	0.30854	T	0.27	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	112;112;142;112	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	T	112	ENSP00000376833:A112T;ENSP00000282499:A112T;ENSP00000376835:A112T;ENSP00000415551:A112T;ENSP00000432443:A112T;ENSP00000435775:A112T;ENSP00000432180:A112T	ENSP00000282499:A112T	A	+	1	0	GRIA4	105129003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	GCC		0.463	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			7	86	0	0	0	1	0	7	86				
APPL1	26060	broad.mit.edu	37	3	57302429	57302429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57302429C>T	ENST00000288266.3	+	21	2044	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	633	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTTTAGGATCGTAGGGCATC	0.269																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1897-1899)Cgt>Tgt		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							51.0	49.0	49.0					3																	57302429		2198	4298	6496	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57302429C>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1897C>T	3.37:g.57302429C>T	ENSP00000288266:p.Arg633Cys					ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	p.R633C	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	21	2044	+			633			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1897C>T	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769303	0.69992	.	.	ENSG00000157500	ENST00000288266	T	0.10860	2.83	3.86	3.86	0.44501	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.116342	0.64402	D	0.000020	T	0.12178	0.0296	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.996	P;P	0.58013	0.831;0.505	T	0.20438	-1.0275	10	0.87932	D	0	.	13.5986	0.62004	0.0:1.0:0.0:0.0	.	616;633	B4DQX8;Q9UKG1	.;DP13A_HUMAN	C	633	ENSP00000288266:R633C	ENSP00000288266:R633C	R	+	1	0	APPL1	57277469	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.356000	0.52269	2.428000	0.82296	0.557000	0.71058	CGT		0.269	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		5	8	0	0	0	1	0	5	8				
ITGA2	3673	broad.mit.edu	37	5	52379220	52379220	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52379220T>C	ENST00000296585.5	+	27	3338	c.3195T>C	c.(3193-3195)gtT>gtC	p.V1065V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1065					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAGACGTTCACATGAAAG	0.358																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3193-3195)gtT>gtC		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							129.0	119.0	122.0					5																	52379220		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52379220T>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3195T>C	5.37:g.52379220T>C							p.V1065V	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			27	3338	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	1065					Q14595	Silent	SNP	ENST00000296585.5	37	c.3195T>C	CCDS3957.1																																																																																				0.358	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		18	29	0	0	0	1	0	18	29				
BMP10	27302	broad.mit.edu	37	2	69093325	69093325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093325C>T	ENST00000295379.1	-	2	871	c.713G>A	c.(712-714)cGg>cAg	p.R238Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	238					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TATTTCTAGCCGTCCACTGCT	0.498																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(712-714)cGg>cAg		bone morphogenetic protein 10							103.0	93.0	97.0					2																	69093325		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093325C>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.713G>A	2.37:g.69093325C>T	ENSP00000295379:p.Arg238Gln						p.R238Q	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	871	-			238					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.713G>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	C	3.004	-0.205431	0.06180	.	.	ENSG00000163217	ENST00000295379	T	0.66099	-0.19	5.97	3.55	0.40652	Transforming growth factor-beta, N-terminal (1);	0.586122	0.19849	N	0.104682	T	0.31544	0.0800	N	0.03154	-0.405	0.21579	N	0.999635	B	0.06786	0.001	B	0.06405	0.002	T	0.16188	-1.0411	10	0.13108	T	0.6	.	6.2737	0.20969	0.0:0.0872:0.1614:0.7515	.	238	O95393	BMP10_HUMAN	Q	238	ENSP00000295379:R238Q	ENSP00000295379:R238Q	R	-	2	0	BMP10	68946829	1.000000	0.71417	0.830000	0.32933	0.210000	0.24377	2.253000	0.43205	1.119000	0.41883	0.655000	0.94253	CGG		0.498	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		15	32	0	0	0	1	0	15	32				
RECK	8434	broad.mit.edu	37	9	36109991	36109991	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36109991T>C	ENST00000377966.3	+	15	2369	c.1803T>C	c.(1801-1803)tgT>tgC	p.C601C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	601					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCAATGTCTGTTCTTGTTTTG	0.438																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(1801-1803)tgT>tgC		reversion-inducing-cysteine-rich protein with kazal motifs							340.0	275.0	297.0					9																	36109991		2203	4300	6503	SO:0001819	synonymous_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36109991T>C	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1803T>C	9.37:g.36109991T>C							p.C601C	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		15	2369	+			601					B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	c.1803T>C	CCDS6597.1																																																																																				0.438	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			76	96	0	0	0	1	0	76	96				
DAPK1	1612	broad.mit.edu	37	9	90273032	90273032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90273032C>T	ENST00000408954.3	+	18	2248	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	DAPK1_ENST00000469640.2_Missense_Mutation_p.A638V|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Missense_Mutation_p.A638V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A638V|DAPK1_ENST00000472284.1_Missense_Mutation_p.A638V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	638					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCGTTGAGGCGCTGACCACG	0.627									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1912-1914)gCg>gTg		death-associated protein kinase 1							41.0	44.0	43.0					9																	90273032		2171	4272	6443	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90273032C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1913C>T	9.37:g.90273032C>T	ENSP00000386135:p.Ala638Val					DAPK1_ENST00000358077.5_Missense_Mutation_p.A638V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A638V|DAPK1_ENST00000408954.3_Missense_Mutation_p.A638V|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Missense_Mutation_p.A638V	p.A638V			P53355	DAPK1_HUMAN			18	2288	+			638					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1913C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981206	0.34942	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67865	2.35;2.35;2.35;2.35;-0.29	4.84	4.84	0.62591	Ankyrin repeat-containing domain (3);	0.000000	0.47852	D	0.000214	T	0.48660	0.1512	N	0.21142	0.635	0.58432	D	0.999999	P;B;B	0.35944	0.529;0.193;0.31	B;B;B	0.25405	0.06;0.055;0.034	T	0.48906	-0.8993	10	0.16896	T	0.51	.	17.7411	0.88407	0.0:1.0:0.0:0.0	.	638;192;638	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	V	638	ENSP00000350785:A638V;ENSP00000417076:A638V;ENSP00000418885:A638V;ENSP00000386135:A638V;ENSP00000419026:A638V	ENSP00000350785:A638V	A	+	2	0	DAPK1	89462852	0.997000	0.39634	0.994000	0.49952	0.890000	0.51754	3.571000	0.53841	2.524000	0.85096	0.655000	0.94253	GCG		0.627	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		4	4	0	0	0	1	0	4	4				
PDE6B	5158	broad.mit.edu	37	4	651256	651256	+	Silent	SNP	C	C	T	rs541985727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:651256C>T	ENST00000496514.1	+	10	1395	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Silent_p.C458C|PDE6B_ENST00000429163.2_Silent_p.C179C|RP11-1191J2.2_ENST00000489312.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	458					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACGTGAAGTGCGACAGGGACG	0.617													.|||	1	0.000199681	0.0	0.0	5008	,	,		18735	0.0		0.0	False		,,,				2504	0.001				GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1372-1374)tgC>tgT		phosphodiesterase 6B, cGMP-specific, rod, beta							184.0	123.0	143.0					4																	651256		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:651256C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1374C>T	4.37:g.651256C>T						PDE6B_ENST00000429163.2_Silent_p.C179C|PDE6B_ENST00000496514.1_Silent_p.C458C	p.C458C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			10	1417	+			458					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.1374C>T	CCDS33932.1																																																																																				0.617	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		19	41	0	0	0	1	0	19	41				
L3MBTL2	83746	broad.mit.edu	37	22	41620783	41620783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41620783C>T	ENST00000216237.5	+	10	1387	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	410					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACTGTGATGCCGTTCCTTAC	0.572																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1228-1230)gCc>gTc		l(3)mbt-like 2 (Drosophila)							192.0	150.0	165.0					22																	41620783		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620783C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1229C>T	22.37:g.41620783C>T	ENSP00000216237:p.Ala410Val						p.A410V	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			10	1387	+			410					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1229C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050023	0.93740	.	.	ENSG00000100395	ENST00000216237	T	0.19938	2.11	5.13	5.13	0.70059	.	0.337449	0.34932	N	0.003574	T	0.20088	0.0483	L	0.46157	1.445	0.58432	D	0.999994	P;P	0.48998	0.918;0.775	B;B	0.35114	0.196;0.142	T	0.05852	-1.0860	10	0.59425	D	0.04	.	18.5927	0.91220	0.0:1.0:0.0:0.0	.	410;410	Q969R5-3;Q969R5	.;LMBL2_HUMAN	V	410	ENSP00000216237:A410V	ENSP00000216237:A410V	A	+	2	0	L3MBTL2	39950729	0.999000	0.42202	0.994000	0.49952	0.982000	0.71751	4.520000	0.60524	2.403000	0.81681	0.561000	0.74099	GCC		0.572	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		9	26	0	0	0	1	0	9	26				
PHTF2	57157	broad.mit.edu	37	7	77569880	77569880	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569880A>C	ENST00000248550.7	+	14	1852	c.1776A>C	c.(1774-1776)acA>acC	p.T592T	PHTF2_ENST00000416283.2_Silent_p.T558T|PHTF2_ENST00000275575.7_Silent_p.T554T|PHTF2_ENST00000422959.2_Silent_p.T558T|PHTF2_ENST00000307305.8_Silent_p.T554T			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GACATTTAACATCTGCAAGGA	0.338																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1672-1674)acA>acC		putative homeodomain transcription factor 2							85.0	80.0	81.0					7																	77569880		1806	4072	5878	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569880A>C	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1776A>C	7.37:g.77569880A>C						PHTF2_ENST00000248550.7_Silent_p.T592T|PHTF2_ENST00000422959.2_Silent_p.T558T|PHTF2_ENST00000307305.8_Silent_p.T554T|PHTF2_ENST00000275575.7_Silent_p.T554T	p.T558T	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			13	1800	+			592					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.1674A>C																																																																																					0.338	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		7	82	0	0	0	1	0	7	82				
BTNL3	10917	broad.mit.edu	37	5	180419996	180419996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180419996T>C	ENST00000342868.6	+	2	417	c.233T>C	c.(232-234)aTg>aCg	p.M78T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	78						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTAAGCAGATGCCACAGTAT	0.527																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(232-234)aTg>aCg		butyrophilin-like 3							73.0	69.0	70.0					5																	180419996		2101	3907	6008	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180419996T>C	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.233T>C	5.37:g.180419996T>C	ENSP00000341787:p.Met78Thr						p.M78T	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		2	417	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	78					Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.233T>C	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897210	0.33535	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.62788	0.0	2.96	1.68	0.24146	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58104	0.2099	M	0.71206	2.165	0.22552	N	0.998995	B	0.17268	0.021	B	0.17722	0.019	T	0.54616	-0.8267	9	0.66056	D	0.02	.	6.7232	0.23342	0.2112:0.0:0.0:0.7888	.	78	Q6UXE8	BTNL3_HUMAN	T	78	ENSP00000341787:M78T	ENSP00000341787:M78T	M	+	2	0	BTNL3	180352602	0.199000	0.23386	0.008000	0.14137	0.007000	0.05969	0.311000	0.19380	0.274000	0.22072	0.416000	0.27883	ATG		0.527	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		11	17	0	0	0	1	0	11	17				
KIRREL2	84063	broad.mit.edu	37	19	36357131	36357131	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36357131G>T	ENST00000360202.5	+	15	2062	c.1864G>T	c.(1864-1866)Ggt>Tgt	p.G622C	KIRREL2_ENST00000262625.7_Intron|APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G587C|KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000221891.4_5'Flank|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	622					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGGAGGAGGTCTCTTCCT	0.602																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(1864-1866)Ggt>Tgt		kin of IRRE like 2 (Drosophila)							76.0	74.0	75.0					19																	36357131		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357131G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1864G>T	19.37:g.36357131G>T	ENSP00000353331:p.Gly622Cys					KIRREL2_ENST00000586102.2_Missense_Mutation_p.G602C|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G587C|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron	p.G622C	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2062	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		622					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1864G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386569	0.61956	.	.	ENSG00000126259	ENST00000360202;ENST00000341658;ENST00000270294	T	0.66995	-0.24	5.1	3.99	0.46301	.	0.150307	0.31279	N	0.007934	T	0.64271	0.2583	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.963;0.983;0.963	T	0.61603	-0.7029	9	.	.	.	-18.2798	10.7186	0.46028	0.0:0.1929:0.8071:0.0	.	622;602;622	F1T0I2;Q6UWL6-4;Q6UWL6	.;.;KIRR2_HUMAN	C	622;602;133	ENSP00000353331:G622C	.	G	+	1	0	KIRREL2	41048971	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.244000	0.58728	2.369000	0.80426	0.561000	0.74099	GGT		0.602	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		6	58	1	0	8.12818e-05	1	8.99451e-05	6	58				
FAXDC2	10826	broad.mit.edu	37	5	154200982	154200982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154200982G>A	ENST00000326080.5	-	8	1106	c.683C>T	c.(682-684)tCc>tTc	p.S228F	FAXDC2_ENST00000517938.1_Missense_Mutation_p.S205F|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	228					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										TAGCATGTTGGAGACCTGCAA	0.522																																						ENST00000326080.5																			0											c.(682-684)tCc>tTc		fatty acid hydroxylase domain containing 2							101.0	103.0	102.0					5																	154200982		2041	4199	6240	SO:0001583	missense	10826							g.chr5:154200982G>A	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.683C>T	5.37:g.154200982G>A	ENSP00000320604:p.Ser228Phe					FAXDC2_ENST00000517938.1_Missense_Mutation_p.S205F	p.S228F	NM_032385.3	NP_115761.2					8	1106	-								B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	c.683C>T	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090075	0.76756	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	D;D	0.84298	-1.83;-1.83	5.11	4.22	0.49857	Fatty acid hydroxylase (1);	0.214672	0.50627	D	0.000118	D	0.93350	0.7880	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94245	0.7488	10	0.59425	D	0.04	.	15.4844	0.75555	0.0:0.1389:0.8611:0.0	.	228	Q96IV6	CE004_HUMAN	F	228;205	ENSP00000320604:S228F;ENSP00000430286:S205F	ENSP00000320604:S228F	S	-	2	0	C5orf4	154181175	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	7.436000	0.80404	1.111000	0.41721	0.655000	0.94253	TCC		0.522	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		5	13	0	0	0	1	0	5	13				
ZNF12	7559	broad.mit.edu	37	7	6736973	6736973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6736973G>A	ENST00000405858.1	-	4	776	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF12_ENST00000342651.5_Missense_Mutation_p.P79S|ZNF12_ENST00000404360.1_Missense_Mutation_p.P43S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACACACCTGGATAGCTCTGA	0.433																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(235-237)Cca>Tca		zinc finger protein 12							79.0	81.0	81.0					7																	6736973		2051	4223	6274	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6736973G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.235C>T	7.37:g.6736973G>A	ENSP00000385939:p.Pro79Ser					ZNF12_ENST00000342651.5_Missense_Mutation_p.P79S|ZNF12_ENST00000404360.1_Missense_Mutation_p.P43S|AC073343.13_ENST00000366167.2_RNA	p.P79S	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	4	776	-		Ovarian(82;0.0776)	79			KRAB.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.235C>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118888	0.37436	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.06933	3.24;3.26;3.34	4.12	2.26	0.28386	Krueppel-associated box (1);	0.000000	0.39407	N	0.001380	T	0.08358	0.0208	L	0.46885	1.475	0.28457	N	0.916085	B;B	0.16166	0.008;0.016	B;B	0.14578	0.004;0.011	T	0.14671	-1.0464	10	0.39692	T	0.17	.	10.6412	0.45594	0.0:0.3766:0.6234:0.0	.	79;79	P17014;P17014-5	ZNF12_HUMAN;.	S	43;79;79;137;43	ENSP00000384405:P43S;ENSP00000385939:P79S;ENSP00000344745:P79S	ENSP00000331039:P43S	P	-	1	0	ZNF12	6703498	0.177000	0.23109	0.607000	0.28956	0.998000	0.95712	0.256000	0.18351	0.669000	0.31146	0.585000	0.79938	CCA		0.433	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		4	19	0	0	0	1	0	4	19				
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	G	A	rs370739539		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		12486	0.001		0.0	False		,,,				2504	0.0				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2020-2022)gaC>gaT		SREBF chaperone		G		1,4395		0,1,2197	16.0	18.0	17.0		2022	-2.7	0.4	3		17	0,8598		0,0,4299	no	coding-synonymous	SCAP	NM_012235.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		674/1280	47460252	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460252G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2022C>T	3.37:g.47460252G>A						SCAP_ENST00000545718.1_Silent_p.D282D|SCAP_ENST00000441517.2_Silent_p.D419D	p.D674D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	14	2434	-			674					Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.2022C>T	CCDS2755.2																																																																																				0.701	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		3	9	0	0	0	1	0	3	9				
C8orf46	254778	broad.mit.edu	37	8	67428264	67428264	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67428264A>T	ENST00000305454.3	+	6	1018	c.577A>T	c.(577-579)Aag>Tag	p.K193*	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	193										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCACAAGAAGAAGTCTGAATA	0.577																																						ENST00000305454.3																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6						c.(577-579)Aag>Tag		chromosome 8 open reading frame 46							40.0	38.0	39.0					8																	67428264		2203	4300	6503	SO:0001587	stop_gained	254778							g.chr8:67428264A>T	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.577A>T	8.37:g.67428264A>T	ENSP00000302260:p.Lys193*					C8orf46_ENST00000522977.1_3'UTR	p.K193*	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		6	1018	+			193					B2RDC3|B4DFU4|C9J814|C9JCS3	Nonsense_Mutation	SNP	ENST00000305454.3	37	c.577A>T	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	A	38	6.801159	0.97849	.	.	ENSG00000169085	ENST00000305454	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0269	12.9331	0.58299	1.0:0.0:0.0:0.0	.	.	.	.	X	193	.	.	K	+	1	0	C8orf46	67590818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.982000	0.70532	1.932000	0.55993	0.460000	0.39030	AAG		0.577	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		10	18	0	0	0	1	0	10	18				
TNN	63923	broad.mit.edu	37	1	175049406	175049406	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175049406C>A	ENST00000239462.4	+	4	1005	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	298	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTACTACCCCCTGGGGAAGGA	0.577																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(892-894)Ctg>Atg		tenascin N							80.0	79.0	79.0					1																	175049406		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049406C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.892C>A	1.37:g.175049406C>A	ENSP00000239462:p.Leu298Met						p.L298M	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1005	+		Breast(1374;0.000962)	298			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.892C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670318	0.29693	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57752	0.38	5.69	-1.18	0.09617	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.399254	0.27759	N	0.017967	T	0.31918	0.0812	L	0.31664	0.95	0.09310	N	0.999995	B;B	0.15719	0.007;0.014	B;B	0.29267	0.026;0.1	T	0.08371	-1.0725	10	0.28530	T	0.3	.	1.8361	0.03140	0.4644:0.2327:0.095:0.208	.	298;298	B3KXB6;Q9UQP3	.;TENN_HUMAN	M	298	ENSP00000239462:L298M	ENSP00000239462:L298M	L	+	1	2	TNN	173316029	0.044000	0.20184	0.680000	0.29994	0.960000	0.62799	0.371000	0.20450	0.257000	0.21650	0.650000	0.86243	CTG		0.577	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		12	44	1	0	6.40141e-05	1	7.11719e-05	12	44				
ALAS1	211	broad.mit.edu	37	3	52238733	52238733	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52238733G>A	ENST00000394965.2	+	6	962	c.602G>A	c.(601-603)cGt>cAt	p.R201H	ALAS1_ENST00000310271.2_Missense_Mutation_p.R201H|ALAS1_ENST00000469224.1_Missense_Mutation_p.R201H|ALAS1_ENST00000484952.1_Missense_Mutation_p.R201H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	201					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CAGTATGATCGTTTCTTTGAG	0.383																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(601-603)cGt>cAt		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						106.0	95.0	99.0					3																	52238733		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52238733G>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.602G>A	3.37:g.52238733G>A	ENSP00000378416:p.Arg201His					ALAS1_ENST00000469224.1_Missense_Mutation_p.R201H|ALAS1_ENST00000310271.2_Missense_Mutation_p.R201H|ALAS1_ENST00000484952.1_Missense_Mutation_p.R201H	p.R201H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	6	962	+			201						Missense_Mutation	SNP	ENST00000394965.2	37	c.602G>A	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497132	0.44352	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.87	-1.8	0.07907	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.656833	0.17344	N	0.177634	D	0.87386	0.6164	N	0.16656	0.425	0.27516	N	0.951554	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.72743	-0.4201	10	0.41790	T	0.15	-1.3058	13.5853	0.61926	0.692:0.0:0.308:0.0	.	218;201	B4DVA0;P13196	.;HEM1_HUMAN	H	201	ENSP00000417719:R201H;ENSP00000378416:R201H;ENSP00000309259:R201H;ENSP00000418779:R201H	ENSP00000309259:R201H	R	+	2	0	ALAS1	52213773	0.969000	0.33509	0.902000	0.35471	0.985000	0.73830	0.346000	0.19997	-0.728000	0.04882	-0.768000	0.03414	CGT		0.383	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			16	29	0	0	0	1	0	16	29				
TEP1	7011	broad.mit.edu	37	14	20851712	20851712	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20851712C>T	ENST00000262715.5	-	26	3842	c.3802G>A	c.(3802-3804)Gct>Act	p.A1268T	TEP1_ENST00000556935.1_Missense_Mutation_p.A1160T|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1268	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACCTATCAGCCCCATCGATG	0.587																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3802-3804)Gct>Act		telomerase-associated protein 1							68.0	64.0	66.0					14																	20851712		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20851712C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3802G>A	14.37:g.20851712C>T	ENSP00000262715:p.Ala1268Thr					TEP1_ENST00000556935.1_Missense_Mutation_p.A1160T	p.A1268T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	26	3842	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1268			NACHT.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.3802G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201989	0.79127	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	D;D	0.82433	-1.61;-1.61	5.73	5.73	0.89815	NACHT nucleoside triphosphatase (1);	0.234340	0.42821	D	0.000658	D	0.89378	0.6698	M	0.74647	2.275	0.80722	D	1	D;D;D	0.63880	0.992;0.985;0.993	P;P;P	0.58013	0.676;0.676;0.831	D	0.88321	0.2962	10	0.40728	T	0.16	-7.5103	18.6755	0.91528	0.0:1.0:0.0:0.0	.	1160;618;1268	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	T	1268;1268;1160	ENSP00000262715:A1268T;ENSP00000452574:A1160T	ENSP00000262715:A1268T	A	-	1	0	TEP1	19921552	0.988000	0.35896	0.997000	0.53966	0.988000	0.76386	5.451000	0.66632	2.689000	0.91719	0.655000	0.94253	GCT		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		12	26	0	0	0	1	0	12	26				
CREB1	1385	broad.mit.edu	37	2	208440061	208440061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208440061C>T	ENST00000432329.2	+	7	864	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	CREB1_ENST00000430624.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000353267.3_Nonsense_Mutation_p.Q191*|CREB1_ENST00000536726.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000374397.4_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	205					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	ACAGGGCCTGCAAACATTAAC	0.473			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	ENST00000432329.2				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""	EWSR1/CREB1(44)	0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5						c.(613-615)Caa>Taa		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						138.0	124.0	129.0					2																	208440061		2203	4300	6503	SO:0001587	stop_gained	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208440061C>T	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.613C>T	2.37:g.208440061C>T	ENSP00000387699:p.Gln205*					CREB1_ENST00000430624.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000374397.4_Intron|CREB1_ENST00000536726.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000353267.3_Nonsense_Mutation_p.Q191*|CREB1_ENST00000539789.1_3'UTR	p.Q205*	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	7	864	+			205					P21934|Q6V963|Q9UMA7	Nonsense_Mutation	SNP	ENST00000432329.2	37	c.613C>T	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	C	40	8.169318	0.98688	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000536726;ENST00000448277;ENST00000455757	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.5625	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	191;205;191;191;151;18	.	ENSP00000236995:Q191X	Q	+	1	0	CREB1	208148306	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CAA		0.473	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		10	86	0	0	0	1	0	10	86				
ZNF518A	9849	broad.mit.edu	37	10	97917326	97917326	+	RNA	SNP	A	A	G	rs587764458		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917326A>G	ENST00000534948.1	+	0	2104							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGTTTCATGAAGACTGCTGTA	0.423													A|||	1	0.000199681	0.0	0.0	5008	,	,		21678	0.0		0.0	False		,,,				2504	0.001					ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							76.0	74.0	74.0					10																	97917326		1888	4100	5988			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917326A>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917326A>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2104	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.423	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		24	35	0	0	0	1	0	24	35				
CLASP2	23122	broad.mit.edu	37	3	33592888	33592888	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33592888C>A	ENST00000468888.2	-	30	3080		c.e30-1		CLASP2_ENST00000539981.1_Splice_Site|CLASP2_ENST00000359576.5_Splice_Site|CLASP2_ENST00000307312.7_Splice_Site|CLASP2_ENST00000461133.3_Splice_Site|CLASP2_ENST00000480013.1_Splice_Site|CLASP2_ENST00000399362.4_Splice_Site			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2						axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAACCTTCACCTGCAGAGGAA	0.383																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.e30-1		cytoplasmic linker associated protein 2							53.0	51.0	51.0					3																	33592888		1861	4101	5962	SO:0001630	splice_region_variant	23122							g.chr3:33592888C>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3034-1G>T	3.37:g.33592888C>A						CLASP2_ENST00000307312.7_Splice_Site|CLASP2_ENST00000461133.3_Splice_Site|CLASP2_ENST00000539981.1_Splice_Site|CLASP2_ENST00000468888.2_Splice_Site|CLASP2_ENST00000480013.1_Splice_Site|CLASP2_ENST00000359576.5_Splice_Site		NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			30	3384	-								Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Splice_Site	SNP	ENST00000468888.2	37			.	.	.	.	.	.	.	.	.	.	C	20.3	3.962335	0.74016	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000480385	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4201	0.87512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLASP2	33567892	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.772000	0.85439	2.606000	0.88127	0.591000	0.81541	.		0.383	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	Intron	6	35	1	0	0.248553	1	0.25002	6	35				
SUPT16H	11198	broad.mit.edu	37	14	21830380	21830380	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21830380G>T	ENST00000216297.2	-	15	2107	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	590					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTCGCTTCAGGGTTAGGAAA	0.433																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1768-1770)cCt>cAt		suppressor of Ty 16 homolog (S. cerevisiae)							79.0	73.0	75.0					14																	21830380		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21830380G>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1769C>A	14.37:g.21830380G>T	ENSP00000216297:p.Pro590His						p.P590H	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	15	2107	-	all_cancers(95;0.00115)		590					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1769C>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054782	0.93793	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.72	5.72	0.89469	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87873	0.2672	9	0.72032	D	0.01	-8.6783	18.6573	0.91459	0.0:0.0:1.0:0.0	.	590	Q9Y5B9	SP16H_HUMAN	H	590	.	ENSP00000216297:P590H	P	-	2	0	SUPT16H	20900220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.730000	0.91510	2.694000	0.91930	0.650000	0.86243	CCT		0.433	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			3	30	1	0	0.115264	1	0.117355	3	30				
POM121C	100101267	broad.mit.edu	37	7	75051127	75051127	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75051127A>G	ENST00000257665.5	-	11	3133	c.3134T>C	c.(3133-3135)tTc>tCc	p.F1045S	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.F803S			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1045	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGCTGCACCGAAGGAGAAGAC	0.657																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2407-2409)tTc>tCc		POM121 transmembrane nucleoporin C							28.0	35.0	32.0					7																	75051127		2201	4298	6499	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051127A>G		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3134T>C	7.37:g.75051127A>G	ENSP00000257665:p.Phe1045Ser					POM121C_ENST00000257665.5_Missense_Mutation_p.F1045S	p.F803S	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			13	3272	-			1045			Pore side (Potential).|Thr-rich.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2408T>C		.	.	.	.	.	.	.	.	.	.	A	11.92	1.781682	0.31502	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.25912	3.22;1.77	2.89	2.89	0.33648	.	0.000000	0.38436	N	0.001682	T	0.39517	0.1081	M	0.78049	2.395	0.09310	N	0.999999	P	0.48694	0.914	P	0.52758	0.708	T	0.17319	-1.0373	10	0.56958	D	0.05	.	9.085	0.36577	1.0:0.0:0.0:0.0	.	1045	A8CG34	P121C_HUMAN	S	1045;803	ENSP00000257665:F1045S;ENSP00000414208:F803S	ENSP00000257665:F1045S	F	-	2	0	POM121C	74889063	0.947000	0.32204	0.104000	0.21259	0.111000	0.19643	3.950000	0.56676	1.315000	0.45114	0.332000	0.21555	TTC		0.657	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		15	44	0	0	0	1	0	15	44				
SLC16A1	6566	broad.mit.edu	37	1	113460590	113460590	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113460590G>T	ENST00000538576.1	-	4	1269	c.438C>A	c.(436-438)gcC>gcA	p.A146A	SLC16A1_ENST00000433570.4_Silent_p.A146A|SLC16A1_ENST00000369626.3_Silent_p.A146A	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	146					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CCAGTCCGTTGGCCAATGGTC	0.478																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(436-438)gcC>gcA		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						41.0	43.0	42.0					1																	113460590		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460590G>T	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.438C>A	1.37:g.113460590G>T						SLC16A1_ENST00000433570.4_Silent_p.A146A|SLC16A1_ENST00000369626.3_Silent_p.A146A	p.A146A	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1269	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	146					Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.438C>A	CCDS858.1																																																																																				0.478	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		22	26	1	0	3.01185e-09	1	3.6461e-09	22	26				
EPB41L5	57669	broad.mit.edu	37	2	120889207	120889207	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120889207C>A	ENST00000263713.5	+	18	1729	c.1515C>A	c.(1513-1515)acC>acA	p.T505T	EPB41L5_ENST00000443902.2_Silent_p.T505T|EPB41L5_ENST00000452780.1_Silent_p.T505T	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	505					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TAAAAGACACCTCAGAGAAGC	0.438																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1513-1515)acC>acA		erythrocyte membrane protein band 4.1 like 5							81.0	81.0	81.0					2																	120889207		2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120889207C>A	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1515C>A	2.37:g.120889207C>A						EPB41L5_ENST00000452780.1_Silent_p.T505T|EPB41L5_ENST00000443902.2_Silent_p.T505T	p.T505T	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			18	1729	+			505					Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.1515C>A	CCDS2130.1																																																																																				0.438	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		15	38	1	0	5.35267e-07	1	6.25286e-07	15	38				
ZNF441	126068	broad.mit.edu	37	19	11888483	11888483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11888483C>A	ENST00000357901.4	+	2	163	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGGCTTTGCTGGGTCCATC	0.433																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(61-63)Ctg>Atg		zinc finger protein 441							137.0	115.0	122.0					19																	11888483		692	1591	2283	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11888483C>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.61C>A	19.37:g.11888483C>A	ENSP00000350576:p.Leu21Met					ZNF441_ENST00000454339.2_5'UTR	p.L21M	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			2	163	+			21			KRAB.			Missense_Mutation	SNP	ENST00000357901.4	37	c.61C>A	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145144	0.57044	.	.	ENSG00000197044	ENST00000357901	T	0.18960	2.18	1.75	0.645	0.17782	Krueppel-associated box (4);	.	.	.	.	T	0.48466	0.1501	H	0.95816	3.725	0.20403	N	0.999907	D	0.76494	0.999	P	0.62382	0.901	T	0.35226	-0.9797	9	0.87932	D	0	.	4.1376	0.10178	0.0:0.7678:0.0:0.2322	.	21	Q8N8Z8	ZN441_HUMAN	M	21	ENSP00000350576:L21M	ENSP00000350576:L21M	L	+	1	2	ZNF441	11749483	0.045000	0.20229	0.644000	0.29465	0.985000	0.73830	-0.138000	0.10374	0.079000	0.16929	0.305000	0.20034	CTG		0.433	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		5	30	1	0	0.014758	1	0.0152625	5	30				
ZPR1	8882	broad.mit.edu	37	11	116652883	116652883	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116652883C>T	ENST00000227322.3	-	12	1229	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		390					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCTGGTCCATCTTCTGGCTAA	0.483																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1168-1170)aaG>aaA		zinc finger protein 259							108.0	88.0	95.0					11																	116652883		2201	4296	6497	SO:0001819	synonymous_variant	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116652883C>T																												ENST00000227322.3:c.1170G>A	11.37:g.116652883C>T							p.K390K	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	12	1229	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	390					Q2TAA0	Silent	SNP	ENST00000227322.3	37	c.1170G>A	CCDS8375.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267964	0.23136	.	.	ENSG00000109917	ENST00000429220	.	.	.	6.02	4.15	0.48705	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55237	-0.8172	4	.	.	.	-29.3156	8.9979	0.36063	0.0:0.6668:0.0:0.3332	.	.	.	.	N	317	.	.	D	-	1	0	ZNF259	116158093	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	1.116000	0.31221	0.879000	0.35944	0.655000	0.94253	GAT		0.483	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			22	23	0	0	0	1	0	22	23				
ANKMY2	57037	broad.mit.edu	37	7	16642099	16642099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642099G>T	ENST00000306999.2	-	9	1290	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	349						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGTAAACCAGTGTGTTTTCT	0.368																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1045-1047)caC>caA		ankyrin repeat and MYND domain containing 2							151.0	148.0	149.0					7																	16642099		2202	4299	6501	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16642099G>T	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1047C>A	7.37:g.16642099G>T	ENSP00000303570:p.His349Gln						p.H349Q	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	9	1290	-	Lung NSC(10;0.103)|all_lung(11;0.204)		349					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.1047C>A	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639147	0.67244	.	.	ENSG00000106524	ENST00000306999	T	0.77750	-1.12	5.27	2.49	0.30216	Zinc finger, MYND-type (3);	0.042517	0.85682	D	0.000000	D	0.87912	0.6297	M	0.88775	2.98	0.49798	D	0.999825	D	0.89917	1.0	D	0.80764	0.994	D	0.87050	0.2146	10	0.87932	D	0	-31.397	10.0187	0.42029	0.2813:0.0:0.7187:0.0	.	349	Q8IV38	ANKY2_HUMAN	Q	349	ENSP00000303570:H349Q	ENSP00000303570:H349Q	H	-	3	2	ANKMY2	16608624	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.290000	0.51755	0.233000	0.21120	0.563000	0.77884	CAC		0.368	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		9	166	1	0	3.09899e-07	1	3.63227e-07	9	166				
UBAP1	51271	broad.mit.edu	37	9	34241252	34241252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34241252C>T	ENST00000297661.4	+	4	464	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	UBAP1_ENST00000536252.1_Missense_Mutation_p.R77W|UBAP1_ENST00000545103.1_Missense_Mutation_p.R141W|UBAP1_ENST00000359544.2_Missense_Mutation_p.R77W|UBAP1_ENST00000540348.1_Missense_Mutation_p.R77W|UBAP1_ENST00000543944.1_Missense_Mutation_p.R113W|UBAP1_ENST00000379186.4_Missense_Mutation_p.R77W	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	77					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGAAGCCGAGCGGGAAGCAGA	0.458																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(229-231)Cgg>Tgg		ubiquitin associated protein 1							100.0	109.0	106.0					9																	34241252		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34241252C>T	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.229C>T	9.37:g.34241252C>T	ENSP00000297661:p.Arg77Trp					UBAP1_ENST00000379186.4_Missense_Mutation_p.R77W|UBAP1_ENST00000543944.1_Missense_Mutation_p.R113W|UBAP1_ENST00000545103.1_Missense_Mutation_p.R141W|UBAP1_ENST00000359544.2_Missense_Mutation_p.R77W|UBAP1_ENST00000540348.1_Missense_Mutation_p.R77W|UBAP1_ENST00000297661.4_Missense_Mutation_p.R77W	p.R77W	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	627	+			77					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.229C>T	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260615	0.23051	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.51574	0.72;0.8;0.73;0.73;0.73;0.7;0.73	6.03	1.9	0.25705	.	0.459087	0.25332	N	0.031437	T	0.35913	0.0948	L	0.46157	1.445	0.37868	D	0.929961	B;B;B;B	0.13594	0.007;0.007;0.008;0.002	B;B;B;B	0.08055	0.0;0.003;0.002;0.0	T	0.24333	-1.0163	10	0.62326	D	0.03	-5.2505	5.6461	0.17590	0.3156:0.4825:0.0:0.2019	.	141;113;141;77	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	W	141;113;77;77;77;77;77	ENSP00000441024:R141W;ENSP00000439806:R113W;ENSP00000440456:R77W;ENSP00000439976:R77W;ENSP00000297661:R77W;ENSP00000368484:R77W;ENSP00000352541:R77W	ENSP00000297661:R77W	R	+	1	2	UBAP1	34231252	0.973000	0.33851	0.993000	0.49108	0.617000	0.37484	0.543000	0.23237	0.364000	0.24374	-0.181000	0.13052	CGG		0.458	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			52	62	0	0	0	1	0	52	62				
NCKAP1	10787	broad.mit.edu	37	2	183792952	183792952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183792952G>A	ENST00000361354.4	-	29	3445	c.3073C>T	c.(3073-3075)Cat>Tat	p.H1025Y	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.H1031Y	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1025					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGCAATGCCCTGAGAAA	0.383																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(3091-3093)Cat>Tat		NCK-associated protein 1							93.0	84.0	87.0					2																	183792952		2203	4299	6502	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183792952G>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3073C>T	2.37:g.183792952G>A	ENSP00000355348:p.His1025Tyr					NCKAP1_ENST00000361354.3_Missense_Mutation_p.H1025Y|NCKAP1_ENST00000478449.1_5'UTR	p.H1031Y	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		30	3849	-			1025					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.3091C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111326	0.56398	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.28255	1.62;1.62	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	M	0.66939	2.045	0.80722	D	1	B;B	0.22746	0.074;0.06	B;B	0.17979	0.02;0.012	T	0.25328	-1.0135	10	0.11182	T	0.66	-12.2183	19.8353	0.96655	0.0:0.0:1.0:0.0	.	1025;1031	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Y	1025;1031	ENSP00000355348:H1025Y;ENSP00000354251:H1031Y	ENSP00000354251:H1031Y	H	-	1	0	NCKAP1	183501197	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.803000	0.99136	2.698000	0.92095	0.586000	0.80456	CAT		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		23	45	0	0	0	1	0	23	45				
CELSR1	9620	broad.mit.edu	37	22	46765670	46765670	+	Silent	SNP	G	G	A	rs553683353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46765670G>A	ENST00000262738.3	-	26	7790	c.7791C>T	c.(7789-7791)taC>taT	p.Y2597Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2597					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGGTTCCCGTAGCCCTGGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17298	0.001		0.0	False		,,,				2504	0.0					ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(7789-7791)taC>taT		cadherin, EGF LAG seven-pass G-type receptor 1							51.0	50.0	50.0					22																	46765670		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46765670G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7791C>T	22.37:g.46765670G>A							p.Y2597Y	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	26	7790	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2597					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.7791C>T	CCDS14076.1																																																																																				0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		11	33	0	0	0	1	0	11	33				
VPS13B	157680	broad.mit.edu	37	8	100866174	100866174	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100866174G>A	ENST00000358544.2	+	56	10743	c.10632G>A	c.(10630-10632)ttG>ttA	p.L3544L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3519L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3544					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAAGACTTTGTTTGACACCT	0.478																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10630-10632)ttG>ttA		vacuolar protein sorting 13 homolog B (yeast)							104.0	107.0	106.0					8																	100866174		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866174G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10632G>A	8.37:g.100866174G>A						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3519L	p.L3544L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10743	+	Breast(36;3.73e-07)		3544					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10632G>A	CCDS6280.1																																																																																				0.478	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		36	63	0	0	0	1	0	36	63				
MAP1A	4130	broad.mit.edu	37	15	43820241	43820241	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43820241C>A	ENST00000300231.5	+	4	7020	c.6570C>A	c.(6568-6570)ccC>ccA	p.P2190P	MAP1A_ENST00000382031.1_Silent_p.P2428P|MAP1A_ENST00000399453.1_Silent_p.P2190P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2190					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTCGGCACCCTGTGGCTCCC	0.637																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7282-7284)ccC>ccA		microtubule-associated protein 1A	Estramustine(DB01196)						88.0	96.0	94.0					15																	43820241		1963	4145	6108	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820241C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6570C>A	15.37:g.43820241C>A						MAP1A_ENST00000399453.1_Silent_p.P2190P|MAP1A_ENST00000300231.5_Silent_p.P2190P	p.P2428P			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7315	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2190					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7284C>A	CCDS42031.1																																																																																				0.637	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		11	160	1	0	2.27111e-07	1	2.66951e-07	11	160				
SYNJ2	8871	broad.mit.edu	37	6	158514936	158514936	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158514936G>A	ENST00000355585.4	+	26	3819				SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R1254H|SYNJ2_ENST00000367112.1_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTTTGCTCTCGCTCTCAAGCT	0.488																																						ENST00000367121.3																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3760-3762)cGc>cAc		synaptojanin 2							143.0	128.0	133.0					6																	158514936		876	1991	2867	SO:0001627	intron_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158514936G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3744+800G>A	6.37:g.158514936G>A						SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000355585.4_Intron|SYNJ2_ENST00000367112.1_Intron	p.R1254H			O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	3867	+			0			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3761G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429913	0.43122	.	.	ENSG00000078269	ENST00000367121	D	0.94092	-3.35	5.91	0.224	0.15297	.	.	.	.	.	T	0.82139	0.4972	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.80390	-0.1402	8	0.59425	D	0.04	.	5.8625	0.18757	0.2474:0.2614:0.4911:0.0	.	1254	O15056-3	.	H	1254	ENSP00000356088:R1254H	ENSP00000356088:R1254H	R	+	2	0	SYNJ2	158434924	0.958000	0.32768	0.912000	0.35992	0.994000	0.84299	0.229000	0.17833	2.808000	0.96608	0.655000	0.94253	CGC		0.488	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			31	52	0	0	0	1	0	31	52				
MRPL4	51073	broad.mit.edu	37	19	10369091	10369091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10369091C>T	ENST00000253099.6	+	7	842	c.555C>T	c.(553-555)gaC>gaT	p.D185D	MRPL4_ENST00000307422.5_Silent_p.D185D|MRPL4_ENST00000588502.1_Silent_p.D184D|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Silent_p.D185D|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_Silent_p.D185D	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	185					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCCACCAGGACGACCTGCACA	0.637																																						ENST00000393733.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(553-555)gaC>gaT		mitochondrial ribosomal protein L4							91.0	97.0	95.0					19																	10369091		2203	4300	6503	SO:0001819	synonymous_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10369091C>T	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.555C>T	19.37:g.10369091C>T						MRPL4_ENST00000588502.1_Silent_p.D184D|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.D185D|MRPL4_ENST00000253099.6_Silent_p.D185D|MRPL4_ENST00000590669.1_Silent_p.D185D	p.D185D			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	7	582	+		Renal(1328;0.0112)	185					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	ENST00000253099.6	37	c.555C>T	CCDS12230.1																																																																																				0.637	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			29	41	0	0	0	1	0	29	41				
APEH	327	broad.mit.edu	37	3	49721811	49721811	+	IGR	SNP	C	C	T	rs138155786		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49721811C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.R651Q|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACACGTCCTCGGTGCTTGAT	0.597																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1951-1953)cGa>cAa		macrophage stimulating 1 (hepatocyte growth factor-like)		C	GLN/ARG	0,4406		0,0,2203	60.0	62.0	61.0		1952	5.6	1.0	3	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	MST1	NM_020998.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	651/726	49721811	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721811C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721811C>T							p.R651Q	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	17	2313	-			637			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1952G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667453	0.88348	0.0	1.16E-4	ENSG00000173531	ENST00000449682	D	0.93133	-3.17	5.59	5.59	0.84812	.	0.000000	0.34906	N	0.003584	D	0.94935	0.8362	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.93508	0.6850	10	0.31617	T	0.26	.	19.5863	0.95490	0.0:1.0:0.0:0.0	.	651	G3XAK1	.	Q	651	ENSP00000414287:R651Q	ENSP00000414287:R651Q	R	-	2	0	MST1	49696815	0.995000	0.38212	0.998000	0.56505	0.988000	0.76386	3.252000	0.51461	2.621000	0.88768	0.655000	0.94253	CGA		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	56	0	0	0	1	0	4	56				
PLEKHH1	57475	broad.mit.edu	37	14	68042713	68042713	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68042713G>A	ENST00000329153.5	+	16	2475	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	781	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTGGCACCAAGCATGAAAAGG	0.547																																						ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(2341-2343)aaG>aaA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							54.0	56.0	55.0					14																	68042713		1955	4146	6101	SO:0001819	synonymous_variant	57475					cytoskeleton	binding	g.chr14:68042713G>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2343G>A	14.37:g.68042713G>A							p.K781K	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	16	2475	+			781			PH 2.		A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	c.2343G>A	CCDS45128.1																																																																																				0.547	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		16	40	0	0	0	1	0	16	40				
URB2	9816	broad.mit.edu	37	1	229794945	229794945	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794945G>A	ENST00000258243.2	+	10	4612	c.4476G>A	c.(4474-4476)tcG>tcA	p.S1492S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1492						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCGGGCCTCGCTGCAGCCGG	0.502																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4474-4476)tcG>tcA		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							130.0	137.0	135.0					1																	229794945		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229794945G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4476G>A	1.37:g.229794945G>A							p.S1492S	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			10	4612	+			1492					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.4476G>A	CCDS31052.1																																																																																				0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		79	142	0	0	0	1	0	79	142				
KAT8	84148	broad.mit.edu	37	16	31141659	31141659	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31141659C>T	ENST00000543774.2	+	9	1319	c.984C>T	c.(982-984)taC>taT	p.Y328Y	KAT8_ENST00000219797.4_Silent_p.Y328Y|KAT8_ENST00000448516.2_Silent_p.Y328Y|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	328	Acetyl-CoA binding. {ECO:0000269|PubMed:21217699, ECO:0000269|Ref.20}.|MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GCCGCGGCTACGGGAAGTTCC	0.637																																						ENST00000543774.2																			0											c.(982-984)taC>taT		K(lysine) acetyltransferase 8							76.0	69.0	71.0					16																	31141659		2197	4300	6497	SO:0001819	synonymous_variant	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141659C>T	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.984C>T	16.37:g.31141659C>T						KAT8_ENST00000448516.2_Silent_p.Y328Y|KAT8_ENST00000219797.4_Silent_p.Y328Y	p.Y328Y			Q9H7Z6	MYST1_HUMAN			9	1319	+			328			Acetyl-CoA binding.		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	c.984C>T	CCDS10706.1																																																																																				0.637	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		15	40	0	0	0	1	0	15	40				
NLRP14	338323	broad.mit.edu	37	11	7081244	7081244	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7081244A>T	ENST00000299481.4	+	9	3099	c.2753A>T	c.(2752-2754)aAg>aTg	p.K918M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	918					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATGGAGTGAAGCTTCTGTGT	0.423																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2752-2754)aAg>aTg		NLR family, pyrin domain containing 14							228.0	215.0	219.0					11																	7081244		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081244A>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2753A>T	11.37:g.7081244A>T	ENSP00000299481:p.Lys918Met						p.K918M	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3099	+			918					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2753A>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344357	0.41498	.	.	ENSG00000158077	ENST00000299481	T	0.39997	1.05	4.5	3.34	0.38264	.	0.000000	0.42964	D	0.000635	T	0.60996	0.2312	M	0.83223	2.63	0.35050	D	0.760572	D	0.89917	1.0	D	0.71184	0.972	T	0.69446	-0.5143	10	0.51188	T	0.08	.	7.3037	0.26434	0.8043:0.0:0.0:0.1957	.	918	Q86W24	NAL14_HUMAN	M	918	ENSP00000299481:K918M	ENSP00000299481:K918M	K	+	2	0	NLRP14	7037820	0.212000	0.23540	0.292000	0.24919	0.415000	0.31203	2.215000	0.42862	0.828000	0.34709	0.533000	0.62120	AAG		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		32	152	0	0	0	1	0	32	152				
PKN2	5586	broad.mit.edu	37	1	89270077	89270077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89270077C>T	ENST00000370521.3	+	9	1644	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	PKN2_ENST00000544045.1_Missense_Mutation_p.R103C|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000370505.3_Missense_Mutation_p.R272C|PKN2_ENST00000316005.7_Missense_Mutation_p.R429C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	429	C2.|Necessary to rescue apical junction formation. {ECO:0000250}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		atCCTAGTCACGTGAACTGGA	0.318																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1285-1287)Cgt>Tgt		protein kinase N2							58.0	53.0	55.0					1																	89270077		1822	4081	5903	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89270077C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1285C>T	1.37:g.89270077C>T	ENSP00000359552:p.Arg429Cys					PKN2_ENST00000316005.7_Missense_Mutation_p.R429C|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Missense_Mutation_p.R103C|PKN2_ENST00000370505.3_Missense_Mutation_p.R272C	p.R429C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	9	1644	+		Lung NSC(277;0.123)	429			C2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1285C>T	CCDS714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.196942|4.196942	0.79015|0.79015	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000544045|ENST00000436111	T;T;T;T|.	0.35605|.	1.3;1.3;1.3;1.3|.	4.86|4.86	4.86|4.86	0.63082|0.63082	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.46145|.	U|.	0.000318|.	T|T	0.81791|0.81791	0.4897|0.4897	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.999|.	D;P;P|.	0.73380|.	0.98;0.635;0.745|.	D|D	0.85007|0.85007	0.0903|0.0903	10|5	0.87932|.	D|.	0|.	.|.	18.3446|18.3446	0.90317|0.90317	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	413;429;429|.	B4DTP5;Q16513;B1AL79|.	.;PKN2_HUMAN;.|.	C|M	429;429;272;103|148	ENSP00000359552:R429C;ENSP00000317851:R429C;ENSP00000359536:R272C;ENSP00000439643:R103C|.	ENSP00000317851:R429C|.	R|T	+|+	1|2	0|0	PKN2|PKN2	89042665|89042665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.556000|5.556000	0.67307|0.67307	2.395000|2.395000	0.81488|0.81488	0.585000|0.585000	0.79938|0.79938	CGT|ACG		0.318	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		12	29	0	0	0	1	0	12	29				
HIP1R	9026	broad.mit.edu	37	12	123335813	123335813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123335813C>T	ENST00000253083.4	+	7	671	c.546C>T	c.(544-546)taC>taT	p.Y182Y		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	182					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGTTTGATTACATGGATTGTG	0.527																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(544-546)taC>taT		huntingtin interacting protein 1 related							149.0	156.0	154.0					12																	123335813		2203	4300	6503	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123335813C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.546C>T	12.37:g.123335813C>T							p.Y182Y	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	7	671	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		182					A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.546C>T	CCDS31922.1																																																																																				0.527	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		50	84	0	0	0	1	0	50	84				
P2RY1	5028	broad.mit.edu	37	3	152553954	152553954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152553954G>T	ENST00000305097.3	+	1	1219	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	128					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAACTGCAGAGGTTCATCTTT	0.517																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(382-384)aGg>aTg		purinergic receptor P2Y, G-protein coupled, 1							80.0	78.0	78.0					3																	152553954		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553954G>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.383G>T	3.37:g.152553954G>T	ENSP00000304767:p.Arg128Met						p.R128M	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1219	+			128						Missense_Mutation	SNP	ENST00000305097.3	37	c.383G>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916550	0.92249	.	.	ENSG00000169860	ENST00000305097	T	0.35789	1.29	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47898	-0.9081	10	0.34782	T	0.22	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	128	P47900	P2RY1_HUMAN	M	128	ENSP00000304767:R128M	ENSP00000304767:R128M	R	+	2	0	P2RY1	154036644	1.000000	0.71417	0.878000	0.34440	0.992000	0.81027	7.731000	0.84895	2.706000	0.92434	0.655000	0.94253	AGG		0.517	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		37	45	1	0	7.63091e-17	1	9.86748e-17	37	45				
SNX25	83891	broad.mit.edu	37	4	186283234	186283234	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186283234G>A	ENST00000504273.1	+	17	2610	c.2316G>A	c.(2314-2316)caG>caA	p.Q772Q	SNX25_ENST00000264694.8_Silent_p.Q772Q|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	772					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGAGAGCACAGCAAAAGCTGC	0.453																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(2314-2316)caG>caA		sorting nexin 25							42.0	40.0	41.0					4																	186283234		2203	4300	6503	SO:0001819	synonymous_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186283234G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2316G>A	4.37:g.186283234G>A						SNX25_ENST00000264694.8_Silent_p.Q772Q|SNX25_ENST00000512853.1_3'UTR	p.Q772Q			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	17	2610	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	772					Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	c.2316G>A	CCDS34116.1																																																																																				0.453	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		9	10	0	0	0	1	0	9	10				
PIM2	11040	broad.mit.edu	37	X	48772384	48772384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48772384G>T	ENST00000376509.4	-	4	697	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						AGGTCTATCAGGATGTTCTCA	0.517																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.(508-510)Ctg>Atg		pim-2 oncogene							89.0	67.0	74.0					X																	48772384		2203	4300	6503	SO:0001583	missense	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772384G>T	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.508C>A	X.37:g.48772384G>T	ENSP00000365692:p.Leu170Met						p.L170M	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			4	697	-			170			Protein kinase.		A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.508C>A	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035508	0.54896	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.79653	-1.29;-1.29	5.72	2.78	0.32641	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097327	0.41712	D	0.000835	D	0.84392	0.5462	M	0.67569	2.06	0.41843	D	0.990133	D	0.89917	1.0	D	0.81914	0.995	T	0.81803	-0.0765	10	0.87932	D	0	.	2.3574	0.04299	0.1706:0.1497:0.5219:0.1577	.	170	Q9P1W9	PIM2_HUMAN	M	170;58	ENSP00000365692:L170M;ENSP00000410960:L58M	ENSP00000365692:L170M	L	-	1	2	PIM2	48657328	0.981000	0.34729	1.000000	0.80357	0.957000	0.61999	1.022000	0.30052	0.540000	0.28808	0.600000	0.82982	CTG		0.517	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			4	42	1	0	0.184627	1	0.186383	4	42				
PSG11	5680	broad.mit.edu	37	19	43529131	43529131	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43529131C>A	ENST00000401740.1	-	2	245	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G48W|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	48	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACATCCTTCCCCTCGGACACT	0.473																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(142-144)Ggg>Tgg		pregnancy specific beta-1-glycoprotein 11							186.0	189.0	188.0					19																	43529131		2201	4296	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43529131C>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.142G>T	19.37:g.43529131C>A	ENSP00000384995:p.Gly48Trp					PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G48W	p.G48W			Q9UQ72	PSG11_HUMAN			2	245	-		Prostate(69;0.00682)	48			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.142G>T	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	10.05	1.245232	0.22796	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	D;D	0.81659	-1.52;-1.52	0.929	0.929	0.19449	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88651	0.6494	M	0.88310	2.945	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75673	-0.3236	9	0.87932	D	0	.	5.2086	0.15304	0.0:1.0:0.0:0.0	.	48	Q9UQ72	PSG11_HUMAN	W	48	ENSP00000319140:G48W;ENSP00000384995:G48W	ENSP00000319140:G48W	G	-	1	0	PSG11	48220971	0.008000	0.16893	0.004000	0.12327	0.050000	0.14768	0.581000	0.23819	0.795000	0.33922	0.184000	0.17185	GGG		0.473	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		80	116	1	0	5.42381e-49	1	7.33307e-49	80	116				
TMEM184C	55751	broad.mit.edu	37	4	148546069	148546069	+	Missense_Mutation	SNP	C	C	T	rs142288581		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148546069C>T	ENST00000296582.3	+	4	980	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	TMEM184C_ENST00000508208.1_Missense_Mutation_p.R136W	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	136						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCTAACTAACCGGTATCCAAA	0.383																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(406-408)Cgg>Tgg		transmembrane protein 184C		C	TRP/ARG	0,4406		0,0,2203	123.0	119.0	121.0		406	5.1	1.0	4	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM184C	NM_018241.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	136/439	148546069	1,13005	2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148546069C>T	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.406C>T	4.37:g.148546069C>T	ENSP00000296582:p.Arg136Trp					TMEM184C_ENST00000508208.1_Missense_Mutation_p.R136W	p.R136W	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			4	980	+			136					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.406C>T	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384531	0.82792	0.0	1.16E-4	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.43688	0.94;0.94	5.11	5.11	0.69529	.	0.129155	0.56097	D	0.000037	T	0.56746	0.2006	L	0.46157	1.445	0.54753	D	0.999987	D	0.76494	0.999	P	0.60609	0.877	T	0.59810	-0.7384	10	0.87932	D	0	-17.775	18.8934	0.92414	0.0:1.0:0.0:0.0	.	136	Q9NVA4	T184C_HUMAN	W	136	ENSP00000296582:R136W;ENSP00000425940:R136W	ENSP00000296582:R136W	R	+	1	2	TMEM184C	148765519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.806000	0.62569	2.545000	0.85829	0.573000	0.79308	CGG		0.383	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		47	63	0	0	0	1	0	47	63				
BNIPL	149428	broad.mit.edu	37	1	151011359	151011359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151011359C>T	ENST00000368931.3	+	4	446	c.290C>T	c.(289-291)aCt>aTt	p.T97I	BNIPL_ENST00000295294.7_Missense_Mutation_p.T15I	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	97					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGAGTCTGACTAAGGGGCCT	0.582																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(43-45)aCt>aTt		BCL2/adenovirus E1B 19kD interacting protein like							81.0	75.0	77.0					1																	151011359		2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151011359C>T	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.290C>T	1.37:g.151011359C>T	ENSP00000357927:p.Thr97Ile					BNIPL_ENST00000368931.3_Missense_Mutation_p.T97I	p.T15I	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	653	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		97					Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.44C>T	CCDS978.2	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268134	0.23136	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	T;T;T	0.55930	1.21;1.21;0.49	4.88	1.83	0.25207	.	0.310747	0.34088	N	0.004267	T	0.26122	0.0637	M	0.72479	2.2	0.09310	N	1	B	0.32653	0.379	B	0.31245	0.126	T	0.23547	-1.0185	10	0.66056	D	0.02	.	2.8461	0.05543	0.1776:0.5255:0.196:0.1009	.	97	Q7Z465	BNIPL_HUMAN	I	97;95;15;15	ENSP00000357927:T97I;ENSP00000355333:T95I;ENSP00000295294:T15I	ENSP00000295294:T15I	T	+	2	0	BNIPL	149277983	0.221000	0.23642	0.408000	0.26446	0.600000	0.36913	0.886000	0.28241	0.658000	0.30925	0.563000	0.77884	ACT		0.582	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		5	48	0	0	0	1	0	5	48				
RS1	6247	broad.mit.edu	37	X	18665341	18665341	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18665341T>C	ENST00000379984.3	-	4	336	c.296A>G	c.(295-297)aAc>aGc	p.N99S	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	99	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCGGGCCTTGTTTGCAGTCCA	0.532																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(295-297)aAc>aGc		retinoschisin 1							100.0	89.0	93.0					X																	18665341		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18665341T>C	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.296A>G	X.37:g.18665341T>C	ENSP00000369320:p.Asn99Ser					CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	p.N99S	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			4	336	-	Hepatocellular(33;0.183)		99			F5/8 type C.		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.296A>G	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569194	0.28003	.	.	ENSG00000102104	ENST00000379984	D	0.98762	-5.12	5.43	5.43	0.79202	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.174452	0.64402	D	0.000009	D	0.94391	0.8196	N	0.04335	-0.225	0.80722	D	1	B	0.21821	0.061	B	0.27887	0.084	D	0.92504	0.6011	10	0.14656	T	0.56	.	14.5362	0.67963	0.0:0.0:0.0:1.0	.	99	O15537	XLRS1_HUMAN	S	99	ENSP00000369320:N99S	ENSP00000369320:N99S	N	-	2	0	RS1	18575262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.120000	0.50430	1.813000	0.52934	0.425000	0.28330	AAC		0.532	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			26	47	0	0	0	1	0	26	47				
NOL4	8715	broad.mit.edu	37	18	31684026	31684026	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31684026G>A	ENST00000261592.5	-	4	921	c.624C>T	c.(622-624)aaC>aaT	p.N208N	NOL4_ENST00000269185.4_Silent_p.N94N|NOL4_ENST00000589544.1_Silent_p.N208N|NOL4_ENST00000538587.1_Silent_p.N134N|NOL4_ENST00000535475.1_Silent_p.N53N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	208						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTGCTGTGAGTTTAGCAGCT	0.383																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(622-624)aaC>aaT		nucleolar protein 4							138.0	130.0	133.0					18																	31684026		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31684026G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.624C>T	18.37:g.31684026G>A						NOL4_ENST00000535475.1_Silent_p.N53N|NOL4_ENST00000538587.1_Silent_p.N134N|NOL4_ENST00000589544.1_Silent_p.N208N|NOL4_ENST00000269185.4_Silent_p.N94N	p.N208N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			4	921	-			208					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.624C>T	CCDS11907.2																																																																																				0.383	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		32	40	0	0	0	1	0	32	40				
SLC9A3	6550	broad.mit.edu	37	5	476767	476767	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:476767A>G	ENST00000264938.3	-	12	1790	c.1781T>C	c.(1780-1782)gTc>gCc	p.V594A	CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.V585A	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	594	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTCCAGGCAGACAGCGCTGAC	0.657																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1780-1782)gTc>gCc		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							57.0	48.0	51.0					5																	476767		2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476767A>G		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1781T>C	5.37:g.476767A>G	ENSP00000264938:p.Val594Ala					CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.V585A	p.V594A	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		12	1790	-			594			Interaction with PDZD3 (By similarity).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1781T>C	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.552622	0.27739	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.78481	-1.18;-1.18	4.56	4.56	0.56223	.	0.921876	0.08844	U	0.885363	T	0.77691	0.4168	L	0.47716	1.5	0.37610	D	0.920881	D;P	0.54207	0.965;0.595	P;B	0.47744	0.556;0.192	T	0.72447	-0.4291	10	0.30854	T	0.27	.	13.5764	0.61877	1.0:0.0:0.0:0.0	.	585;594	E9PF67;P48764	.;SL9A3_HUMAN	A	594;585	ENSP00000264938:V594A;ENSP00000422983:V585A	ENSP00000264938:V594A	V	-	2	0	SLC9A3	529767	1.000000	0.71417	0.607000	0.28956	0.061000	0.15899	6.358000	0.73055	1.706000	0.51276	0.459000	0.35465	GTC		0.657	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		6	13	0	0	0	1	0	6	13				
GAA	2548	broad.mit.edu	37	17	78090861	78090861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78090861G>A	ENST00000302262.3	+	16	2503	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	GAA_ENST00000390015.3_Missense_Mutation_p.E762K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	762					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CGGGAAGGCCGAAGTGACTGG	0.647																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2284-2286)Gaa>Aaa		glucosidase, alpha; acid	Acarbose(DB00284)						63.0	55.0	58.0					17																	78090861		2202	4300	6502	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78090861G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2284G>A	17.37:g.78090861G>A	ENSP00000305692:p.Glu762Lys					GAA_ENST00000390015.3_Missense_Mutation_p.E762K	p.E762K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		16	2503	+	all_neural(118;0.117)		762					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.2284G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	2.081	-0.410706	0.04799	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91011	-2.77;-2.77	5.1	1.89	0.25635	.	0.800530	0.11633	N	0.544614	T	0.79678	0.4487	N	0.17800	0.525	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.61778	-0.6993	10	0.13108	T	0.6	-5.7568	5.3501	0.16030	0.3099:0.1394:0.5507:0.0	.	762	P10253	LYAG_HUMAN	K	762	ENSP00000305692:E762K;ENSP00000374665:E762K	ENSP00000305692:E762K	E	+	1	0	GAA	75705456	0.000000	0.05858	0.008000	0.14137	0.436000	0.31835	-0.083000	0.11286	0.146000	0.19002	0.591000	0.81541	GAA		0.647	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			6	18	0	0	0	1	0	6	18				
PSD2	84249	broad.mit.edu	37	5	139193812	139193812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139193812G>T	ENST00000274710.3	+	4	1084	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	293	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCGGAGGGGTTGGAGC	0.632																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(877-879)gaG>gaT		pleckstrin and Sec7 domain containing 2							89.0	81.0	84.0					5																	139193812		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193812G>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.879G>T	5.37:g.139193812G>T	ENSP00000274710:p.Glu293Asp						p.E293D	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1084	+			293			SEC7.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.879G>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.842049	0.71488	.	.	ENSG00000146005	ENST00000274710	T	0.14516	2.5	4.98	4.11	0.48088	SEC7-like (3);	0.057191	0.64402	D	0.000002	T	0.11153	0.0272	L	0.31926	0.97	0.42313	D	0.992223	B	0.33964	0.434	B	0.34418	0.182	T	0.13150	-1.0520	10	0.40728	T	0.16	.	10.1406	0.42734	0.2146:0.0:0.7854:0.0	.	293	Q9BQI7	PSD2_HUMAN	D	293	ENSP00000274710:E293D	ENSP00000274710:E293D	E	+	3	2	PSD2	139173996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.988000	0.49386	1.086000	0.41228	0.563000	0.77884	GAG		0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		5	98	1	0	0.000602214	1	0.000649039	5	98				
B4GALNT1	2583	broad.mit.edu	37	12	58024986	58024986	+	Missense_Mutation	SNP	G	G	A	rs141063083	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58024986G>A	ENST00000341156.4	-	3	964	c.380C>T	c.(379-381)tCg>tTg	p.S127L	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.S127L|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.S127L|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.S127L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	127					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGTACCTCGACAGAAAGGC	0.587													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		20351	0.0		0.0	False		,,,				2504	0.0					ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(379-381)tCg>tTg		beta-1,4-N-acetyl-galactosaminyl transferase 1		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	204.0	204.0	204.0		380	4.8	1.0	12	dbSNP_134	204	0,8600		0,0,4300	yes	missense	B4GALNT1	NM_001478.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	127/534	58024986	1,13005	2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58024986G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.380C>T	12.37:g.58024986G>A	ENSP00000341562:p.Ser127Leu					B4GALNT1_ENST00000552350.1_Missense_Mutation_p.S127L|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.S127L|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.S127L|B4GALNT1_ENST00000418555.2_Intron	p.S127L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	964	-	Melanoma(17;0.122)		127					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.380C>T	CCDS8950.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.59	2.282475	0.40394	2.27E-4	0.0	ENSG00000135454	ENST00000341156;ENST00000550764;ENST00000552350;ENST00000548888	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.8	4.8	0.61643	.	0.970803	0.08491	N	0.937979	T	0.26774	0.0655	N	0.24115	0.695	0.27945	N	0.937363	D;P;P;B	0.56746	0.977;0.516;0.876;0.087	B;B;B;B	0.44108	0.441;0.135;0.187;0.006	T	0.09596	-1.0667	10	0.39692	T	0.17	.	13.2343	0.59961	0.0:0.0:1.0:0.0	.	204;127;127;127	B7Z7U3;B4DSP5;Q8N636;Q00973	.;.;.;B4GN1_HUMAN	L	127	ENSP00000341562:S127L;ENSP00000450303:S127L;ENSP00000448500:S127L;ENSP00000447945:S127L	ENSP00000341562:S127L	S	-	2	0	B4GALNT1	56311253	0.524000	0.26282	1.000000	0.80357	0.924000	0.55760	0.893000	0.28336	2.473000	0.83533	0.609000	0.83330	TCG		0.587	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		13	261	0	0	0	1	0	13	261				
GPR151	134391	broad.mit.edu	37	5	145894747	145894747	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145894747C>T	ENST00000311104.2	-	1	1006	c.930G>A	c.(928-930)tcG>tcA	p.S310S		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACTCTTCCGACATCACAA	0.478																																					Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(928-930)tcG>tcA		G protein-coupled receptor 151							74.0	75.0	74.0					5																	145894747		2203	4300	6503	SO:0001819	synonymous_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145894747C>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.930G>A	5.37:g.145894747C>T							p.S310S	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1006	-			310					Q86SN8|Q8NGV2	Silent	SNP	ENST00000311104.2	37	c.930G>A	CCDS34266.1																																																																																				0.478	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		10	16	0	0	0	1	0	10	16				
FAM98A	25940	broad.mit.edu	37	2	33813498	33813498	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33813498G>A	ENST00000238823.8	-	4	566	c.426C>T	c.(424-426)gtC>gtT	p.V142V	FAM98A_ENST00000403368.1_Silent_p.V142V|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	142							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACTCTTGAAAGACCTCACTAC	0.413																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(424-426)gtC>gtT		family with sequence similarity 98, member A							152.0	145.0	148.0					2																	33813498		2203	4299	6502	SO:0001819	synonymous_variant	25940							g.chr2:33813498G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.426C>T	2.37:g.33813498G>A						FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Silent_p.V142V|FAM98A_ENST00000441530.2_Intron	p.V142V	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			4	495	-	all_hematologic(175;0.115)		142					B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	c.426C>T	CCDS33179.1																																																																																				0.413	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		62	78	0	0	0	1	0	62	78				
NUP210L	91181	broad.mit.edu	37	1	154127368	154127368	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154127368C>T	ENST00000368559.3	-	1	224	c.153G>A	c.(151-153)gaG>gaA	p.E51E	TPM3_ENST00000469717.1_5'Flank|NUP210L_ENST00000271854.3_Silent_p.E51E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	51					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCGGCCTGGCTCTCGGCCGA	0.587																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(151-153)gaG>gaA		nucleoporin 210kDa-like							41.0	46.0	44.0					1																	154127368		1965	4147	6112	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154127368C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.153G>A	1.37:g.154127368C>T						NUP210L_ENST00000271854.3_Silent_p.E51E	p.E51E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		1	224	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		51					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.153G>A	CCDS41399.1																																																																																				0.587	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		20	31	0	0	0	1	0	20	31				
GLTSCR1L	23506	broad.mit.edu	37	6	42821421	42821421	+	Missense_Mutation	SNP	C	C	T	rs138499464		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42821421C>T	ENST00000314073.5	+	8	2167	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664V			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	664																	TTAGGAACCGCACAACCACAG	0.423																																						ENST00000314073.5																			0											c.(1990-1992)gCa>gTa		GLTSCR1-like		C	VAL/ALA	0,4406		0,0,2203	151.0	130.0	137.0		1991	3.1	0.3	6	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0240	NM_015349.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	664/1080	42821421	1,13005	2203	4300	6503	SO:0001583	missense	23506							g.chr6:42821421C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1991C>T	6.37:g.42821421C>T	ENSP00000313933:p.Ala664Val					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664V	p.A664V							8	2167	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1991C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597889	0.28445	0.0	1.16E-4	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.45276	0.9;0.9	4.88	3.11	0.35812	.	1.206860	0.05800	N	0.611940	T	0.15089	0.0364	L	0.36672	1.1	0.29643	N	0.844551	B	0.15930	0.015	B	0.12837	0.008	T	0.21930	-1.0231	10	0.21014	T	0.42	5.0E-4	9.9469	0.41613	0.0:0.8572:0.0:0.1428	.	664	Q6AI39	K0240_HUMAN	V	664	ENSP00000313933:A664V;ENSP00000377723:A664V	ENSP00000313933:A664V	A	+	2	0	KIAA0240	42929399	0.996000	0.38824	0.262000	0.24481	0.510000	0.34073	2.251000	0.43187	0.485000	0.27652	-0.672000	0.03802	GCA		0.423	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		28	38	0	0	0	1	0	28	38				
DPP9	91039	broad.mit.edu	37	19	4697661	4697661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4697661G>A	ENST00000598800.1	-	12	1495	c.990C>T	c.(988-990)atC>atT	p.I330I	DPP9_ENST00000594671.1_Silent_p.I330I|DPP9_ENST00000597849.1_Silent_p.I359I|DPP9_ENST00000262960.9_Silent_p.I359I			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	330						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGTCGAGACGATCTGAAGGG	0.632																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1075-1077)atC>atT		dipeptidyl-peptidase 9							38.0	42.0	41.0					19																	4697661		2078	4196	6274	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4697661G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.990C>T	19.37:g.4697661G>A						DPP9_ENST00000597849.1_Silent_p.I359I|DPP9_ENST00000598800.1_Silent_p.I330I|DPP9_ENST00000594671.1_Silent_p.I330I	p.I359I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	11	1354	-		Hepatocellular(1079;0.137)	330					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.1077C>T																																																																																					0.632	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			8	16	0	0	0	1	0	8	16				
RPRD2	23248	broad.mit.edu	37	1	150445743	150445743	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445743G>T	ENST00000369068.4	+	11	4323	c.4319G>T	c.(4318-4320)aGg>aTg	p.R1440M	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1414M|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1440	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGAGACCCAGGCCACCTTTT	0.517																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(4240-4242)aGg>aTg		regulation of nuclear pre-mRNA domain containing 2							70.0	68.0	69.0					1																	150445743		1862	4098	5960	SO:0001583	missense	23248						protein binding	g.chr1:150445743G>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4319G>T	1.37:g.150445743G>T	ENSP00000358064:p.Arg1440Met					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1440M	p.R1414M			Q5VT52	RPRD2_HUMAN			10	4306	+			1440			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.4241G>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677040	0.47886	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.61158	0.13;0.13	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.57257	0.2041	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.962;0.983	T	0.65709	-0.6102	10	0.87932	D	0	-13.2606	17.5786	0.87958	0.0:0.0:1.0:0.0	.	1440;1414	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	M	1414;1440	ENSP00000383785:R1414M;ENSP00000358064:R1440M	ENSP00000358064:R1440M	R	+	2	0	RPRD2	148712367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.305000	0.65750	2.356000	0.79943	0.655000	0.94253	AGG		0.517	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		21	78	1	0	6.33239e-15	1	8.10486e-15	21	78				
RMDN2	151393	broad.mit.edu	37	2	38178566	38178566	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38178566C>A	ENST00000406384.1	+	2	646				RMDN2_ENST00000402091.3_Missense_Mutation_p.P70T|RMDN2_ENST00000234195.3_Missense_Mutation_p.P70T|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Missense_Mutation_p.P70T	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TGTATCAAGTCCATCTTTCTC	0.343																																						ENST00000407257.1																			0											c.(208-210)Cca>Aca		regulator of microtubule dynamics 2							91.0	93.0	92.0					2																	38178566		2203	4299	6502	SO:0001627	intron_variant	151393							g.chr2:38178566C>A	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21694C>A	2.37:g.38178566C>A						RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.P70T|RMDN2_ENST00000234195.3_Missense_Mutation_p.P70T|RMDN2-AS1_ENST00000414365.2_RNA	p.P70T							2	355	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.208C>A	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	1.815	-0.473750	0.04414	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.45668	0.89;0.89	3.79	-7.58	0.01313	.	4.808600	0.00777	N	0.001258	T	0.19927	0.0479	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.18710	T	0.47	0.1011	2.3917	0.04379	0.1176:0.1919:0.3634:0.3271	.	70	Q96LZ7-2	.	T	70	ENSP00000385049:P70T;ENSP00000234195:P70T	ENSP00000234195:P70T	P	+	1	0	FAM82A1	38032070	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-4.039000	0.00308	-3.472000	0.00157	-0.302000	0.09304	CCA		0.343	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		32	60	1	0	1.30897e-18	1	1.70928e-18	32	60				
TPCN1	53373	broad.mit.edu	37	12	113724881	113724881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113724881G>A	ENST00000335509.6	+	19	1930	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	TPCN1_ENST00000392569.4_Missense_Mutation_p.R471H|TPCN1_ENST00000550785.1_Missense_Mutation_p.R611H|TPCN1_ENST00000541517.1_Missense_Mutation_p.R611H	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	539					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GTGGTCCTGCGCCCCCTCCAG	0.612																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1831-1833)cGc>cAc		two pore segment channel 1							108.0	94.0	99.0					12																	113724881		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113724881G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1616G>A	12.37:g.113724881G>A	ENSP00000335300:p.Arg539His					TPCN1_ENST00000541517.1_Missense_Mutation_p.R611H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R471H|TPCN1_ENST00000335509.6_Missense_Mutation_p.R539H	p.R611H	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			20	2001	+			539					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1832G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487522	0.96323	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.94698	3.57	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.98626	1.0669	10	0.87932	D	0	-10.6929	19.4665	0.94945	0.0:0.0:1.0:0.0	.	539;611;539	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	H	539;611;611;471	ENSP00000335300:R539H;ENSP00000448083:R611H;ENSP00000438125:R611H;ENSP00000376350:R471H	ENSP00000335300:R539H	R	+	2	0	TPCN1	112209264	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.137000	0.94496	2.682000	0.91365	0.643000	0.83706	CGC		0.612	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		34	54	0	0	0	1	0	34	54				
CXCR4	7852	broad.mit.edu	37	2	136872919	136872919	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136872919G>A	ENST00000241393.3	-	2	683	c.579C>T	c.(577-579)gaC>gaT	p.D193D	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Silent_p.D197D	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	193	Involved in dimerization.				activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CCACCCACAAGTCATTGGGGT	0.493																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(589-591)gaC>gaT		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						134.0	123.0	127.0					2																	136872919		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872919G>A	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.579C>T	2.37:g.136872919G>A						CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Silent_p.D193D	p.D197D	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	894	-			193			Involved in dimerization.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	ENST00000241393.3	37	c.591C>T	CCDS46420.1																																																																																				0.493	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			35	36	0	0	0	1	0	35	36				
LRRCC1	85444	broad.mit.edu	37	8	86035730	86035730	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86035730G>A	ENST00000360375.3	+	7	1162	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	LRRCC1_ENST00000414626.2_Missense_Mutation_p.G318E	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	338					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTGACTATGGAAACAGAAAA	0.328																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(952-954)gGa>gAa		leucine rich repeat and coiled-coil centrosomal protein 1							82.0	81.0	81.0					8																	86035730		1809	4072	5881	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86035730G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1013G>A	8.37:g.86035730G>A	ENSP00000353538:p.Gly338Glu					LRRCC1_ENST00000360375.3_Missense_Mutation_p.G338E	p.G318E			Q9C099	LRCC1_HUMAN			6	1842	+			338					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.953G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	5.413	0.261287	0.10239	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.26810	1.71;1.71	5.83	3.81	0.43845	.	0.000000	0.35040	N	0.003484	T	0.13286	0.0322	L	0.31926	0.97	0.42359	D	0.992409	B;B;B;B	0.28128	0.016;0.201;0.016;0.027	B;B;B;B	0.28784	0.024;0.094;0.024;0.012	T	0.10086	-1.0645	10	0.02654	T	1	-26.9684	4.096	0.09991	0.4615:0.0:0.5385:0.0	.	245;318;245;338	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	E	245;338;318	ENSP00000353538:G338E;ENSP00000394695:G318E	ENSP00000353538:G338E	G	+	2	0	LRRCC1	86222982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.705000	0.61838	1.472000	0.48140	0.650000	0.86243	GGA		0.328	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		38	45	0	0	0	1	0	38	45				
TTN	7273	broad.mit.edu	37	2	179483176	179483176	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483176A>C	ENST00000591111.1	-	202	42310	c.42086T>G	c.(42085-42087)tTt>tGt	p.F14029C	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F6605C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F6730C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F13102C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F15670C|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F6797C|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14029	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCATCAAATGTTTCTGT	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47008-47010)tTt>tGt		titin							60.0	56.0	57.0					2																	179483176		1895	4122	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483176A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42086T>G	2.37:g.179483176A>C	ENSP00000465570:p.Phe14029Cys					TTN_ENST00000460472.2_Missense_Mutation_p.F6605C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F13102C|TTN_ENST00000359218.5_Missense_Mutation_p.F6730C|TTN_ENST00000342175.6_Missense_Mutation_p.F6797C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F14029C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.F15670C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	47233	-			14029			Ig-like 98.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47009T>G		.	.	.	.	.	.	.	.	.	.	A	7.206	0.594545	0.13875	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.55	5.55	0.83447	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47154	0.1430	N	0.25890	0.77	0.25436	N	0.988134	P;P;P;P	0.43938	0.822;0.822;0.822;0.56	B;B;P;B	0.46543	0.446;0.446;0.52;0.446	T	0.45234	-0.9275	9	0.87932	D	0	.	10.2845	0.43558	0.757:0.0:0.0:0.243	.	6605;6730;6797;14029	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	13102;6605;6797;6730;6605	ENSP00000343764:F13102C;ENSP00000434586:F6605C;ENSP00000340554:F6797C;ENSP00000352154:F6730C	ENSP00000340554:F6797C	F	-	2	0	TTN	179191421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.198000	0.51035	2.237000	0.73441	0.528000	0.53228	TTT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	38	0	0	0	1	0	22	38				
DNER	92737	broad.mit.edu	37	2	230377525	230377525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230377525C>T	ENST00000341772.4	-	6	1255	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	374	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTGAAATTGCTCCCATCTTG	0.423																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1120-1122)aGc>aAc		delta/notch-like EGF repeat containing							263.0	215.0	231.0					2																	230377525		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230377525C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1121G>A	2.37:g.230377525C>T	ENSP00000345229:p.Ser374Asn						p.S374N	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	6	1255	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	374			EGF-like 4.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1121G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	0.349	-0.945745	0.02304	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.92249	-3.0	5.76	0.818	0.18778	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.721749	0.15224	N	0.273749	T	0.74397	0.3711	N	0.02379	-0.575	0.22591	N	0.99895	B	0.06786	0.001	B	0.04013	0.001	T	0.62215	-0.6901	10	0.06757	T	0.87	.	7.811	0.29230	0.0:0.5717:0.111:0.3174	.	374	Q8NFT8	DNER_HUMAN	N	374;102	ENSP00000345229:S374N	ENSP00000345229:S374N	S	-	2	0	DNER	230085769	0.866000	0.29940	0.676000	0.29932	0.047000	0.14425	0.409000	0.21082	0.091000	0.17302	-1.094000	0.02160	AGC		0.423	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		53	78	0	0	0	1	0	53	78				
MTMR11	10903	broad.mit.edu	37	1	149903850	149903850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149903850G>T	ENST00000439741.2	-	12	1359	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.S342Y|MTMR11_ENST00000369140.3_Missense_Mutation_p.S298Y|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	370	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTATTACAGAACGAACCCT	0.478																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1108-1110)tCt>tAt		myotubularin related protein 11							95.0	83.0	87.0					1																	149903850		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149903850G>T	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1109C>A	1.37:g.149903850G>T	ENSP00000391668:p.Ser370Tyr					MTMR11_ENST00000406732.3_Missense_Mutation_p.S342Y|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.S298Y|MTMR11_ENST00000361405.6_Intron	p.S370Y	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		12	1359	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		370			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1109C>A	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498498	0.85069	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.94537	-3.45;-3.45;-2.73	5.65	5.65	0.86999	Myotubularin phosphatase domain (1);	0.184247	0.48286	D	0.000186	D	0.97685	0.9241	M	0.89785	3.06	0.45594	D	0.998539	D;D;P;D	0.89917	1.0;1.0;0.946;0.983	D;D;P;P	0.87578	0.998;0.998;0.714;0.876	D	0.97915	1.0311	10	0.87932	D	0	.	17.2626	0.87075	0.0:0.0:1.0:0.0	.	212;342;298;370	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	Y	298;370;342;212	ENSP00000358136:S298Y;ENSP00000391668:S370Y;ENSP00000383948:S342Y	ENSP00000358136:S298Y	S	-	2	0	MTMR11	148170474	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.254000	0.43214	2.941000	0.99782	0.655000	0.94253	TCT		0.478	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		7	16	1	0	1.06961e-07	1	1.26574e-07	7	16				
MFAP1	4236	broad.mit.edu	37	15	44107158	44107158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44107158C>A	ENST00000267812.3	-	3	646	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	138	Poly-Glu.				extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CATCAATTTCCTCCTCCTCTT	0.408																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(412-414)gaG>gaT		microfibrillar-associated protein 1							312.0	302.0	306.0					15																	44107158		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44107158C>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.414G>T	15.37:g.44107158C>A	ENSP00000267812:p.Glu138Asp						p.E138D	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	3	646	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	138			Poly-Glu.		Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.414G>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	8.354	0.831467	0.16820	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.77	-5.5	0.02576	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.52364	1.645	0.42845	D	0.994064	P	0.52842	0.956	P	0.62184	0.899	T	0.65619	-0.6124	9	0.22706	T	0.39	-24.6306	15.871	0.79119	0.0:0.5138:0.0:0.4862	.	138	P55081	MFAP1_HUMAN	D	138	.	ENSP00000267812:E138D	E	-	3	2	MFAP1	41894450	0.292000	0.24362	0.508000	0.27688	0.292000	0.27327	-0.451000	0.06795	-0.990000	0.03481	-1.074000	0.02243	GAG		0.408	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		48	85	1	0	7.34454e-26	1	9.77834e-26	48	85				
GPR132	29933	broad.mit.edu	37	14	105517471	105517471	+	Missense_Mutation	SNP	C	C	T	rs199928228	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517471C>T	ENST00000329797.3	-	4	1914	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	GPR132_ENST00000539291.2_Missense_Mutation_p.V335I|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000392585.2_Missense_Mutation_p.V326I	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	335					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCCTGGTGACGTCTGTCTTC	0.612													T|||	2	0.000399361	0.0	0.0029	5008	,	,		20912	0.0		0.0	False		,,,				2504	0.0					ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1003-1005)Gtc>Atc		G protein-coupled receptor 132							203.0	161.0	176.0					14																	105517471		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517471C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.1003G>A	14.37:g.105517471C>T	ENSP00000328818:p.Val335Ile					GPR132_ENST00000392585.2_Missense_Mutation_p.V326I|GPR132_ENST00000539291.2_Missense_Mutation_p.V335I	p.V335I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1914	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	335					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.1003G>A	CCDS9997.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	9.706	1.155794	0.21454	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37752	1.18;1.18;1.18	4.55	-1.79	0.07932	.	3.158510	0.01261	N	0.009168	T	0.25865	0.0630	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16070	-1.0415	10	0.37606	T	0.19	.	6.181	0.20472	0.0:0.3558:0.1488:0.4955	.	326;335	B4E144;Q9UNW8	.;GP132_HUMAN	I	335;326;335	ENSP00000328818:V335I;ENSP00000376364:V326I;ENSP00000438094:V335I	ENSP00000328818:V335I	V	-	1	0	GPR132	104588516	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.456000	0.06754	-0.390000	0.07774	-1.708000	0.00717	GTC		0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		17	32	0	0	0	1	0	17	32				
CD177	57126	broad.mit.edu	37	19	43864431	43864431	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43864431C>T	ENST00000607109.1	-	0	918				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							TCTGACCTGTCATCGGGGGAC	0.552																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							56.0	60.0	59.0					19																	43864431		1970	4142	6112			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43864431C>T																													19.37:g.43864431C>T						CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	795	+		Prostate(69;0.00682)							RNA	SNP	ENST00000607109.1	37																																																																																						0.552	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			3	13	0	0	0	1	0	3	13				
ZSCAN20	7579	broad.mit.edu	37	1	33960018	33960018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960018G>T	ENST00000361328.3	+	8	2227	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	692					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCTTCTGAAGAGGACTTAGA	0.463																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2074-2076)Gag>Tag		zinc finger and SCAN domain containing 20							98.0	102.0	101.0					1																	33960018		1952	4181	6133	SO:0001587	stop_gained	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960018G>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2074G>T	1.37:g.33960018G>T	ENSP00000355053:p.Glu692*						p.E692*	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2227	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	692					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Nonsense_Mutation	SNP	ENST00000361328.3	37	c.2074G>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	37	6.463105	0.97585	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.75	2.82	0.32997	.	0.102393	0.43110	D	0.000612	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-13.4936	3.1874	0.06606	0.1541:0.1367:0.5683:0.1409	.	.	.	.	X	692;626;626	.	ENSP00000324450:E692X	E	+	1	0	ZSCAN20	33732605	0.001000	0.12720	1.000000	0.80357	0.940000	0.58332	0.479000	0.22228	0.761000	0.33130	-0.305000	0.09177	GAG		0.463	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		8	83	1	0	7.48243e-07	1	8.70085e-07	8	83				
PTPN3	5774	broad.mit.edu	37	9	112170621	112170621	+	Silent	SNP	T	T	G	rs372689393		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112170621T>G	ENST00000374541.2	-	17	1719	c.1615A>C	c.(1615-1617)Agg>Cgg	p.R539R	PTPN3_ENST00000446349.1_Silent_p.R363R|PTPN3_ENST00000394827.3_Silent_p.R7R|PTPN3_ENST00000412145.1_Silent_p.R408R|PTPN3_ENST00000262539.3_Silent_p.R385R	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	539	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTTTATCCTTGATACCACA	0.338																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1222-1224)Agg>Cgg		protein tyrosine phosphatase, non-receptor type 3							122.0	116.0	118.0					9																	112170621		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112170621T>G		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1615A>C	9.37:g.112170621T>G						PTPN3_ENST00000374541.2_Silent_p.R539R|PTPN3_ENST00000262539.3_Silent_p.R385R|PTPN3_ENST00000394827.3_Silent_p.R7R|PTPN3_ENST00000446349.1_Silent_p.R363R	p.R408R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			12	3775	-			539					A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.1222A>C	CCDS6776.1																																																																																				0.338	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			5	65	0	0	0	1	0	5	65				
STAG3	10734	broad.mit.edu	37	7	99800141	99800141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99800141G>A	ENST00000426455.1	+	25	3035	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	STAG3_ENST00000394018.2_Silent_p.G818G|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Silent_p.G876G|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	876					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTAGCCGGGTTCTGCAAGC	0.512																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2626-2628)ggG>ggA		stromal antigen 3							124.0	135.0	131.0					7																	99800141		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99800141G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2628G>A	7.37:g.99800141G>A						STAG3_ENST00000317296.5_Silent_p.G876G|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Silent_p.G818G	p.G876G			Q9UJ98	STAG3_HUMAN			25	3035	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		876					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.2628G>A	CCDS34703.1																																																																																				0.512	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		137	116	0	0	0	1	0	137	116				
CNTNAP1	8506	broad.mit.edu	37	17	40839862	40839862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40839862G>A	ENST00000264638.4	+	8	1386	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	390	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCGCTTCCGCACCTGGGAC	0.642																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1168-1170)cGc>cAc		contactin associated protein 1							66.0	66.0	66.0					17																	40839862		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839862G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1169G>A	17.37:g.40839862G>A	ENSP00000264638:p.Arg390His					CTD-3193K9.3_ENST00000592440.1_RNA	p.R390H	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1386	+		Breast(137;0.000143)	390			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000264638.4	37	c.1169G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684982	0.96784	.	.	ENSG00000108797	ENST00000264638	D	0.83992	-1.79	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000003	D	0.92886	0.7737	M	0.89715	3.055	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94386	0.7609	10	0.87932	D	0	.	18.3261	0.90254	0.0:0.0:1.0:0.0	.	390	P78357	CNTP1_HUMAN	H	390	ENSP00000264638:R390H	ENSP00000264638:R390H	R	+	2	0	CNTNAP1	38093388	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.471000	0.97696	2.302000	0.77476	0.655000	0.94253	CGC		0.642	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		23	50	0	0	0	1	0	23	50				
MYB	4602	broad.mit.edu	37	6	135515004	135515004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135515004C>T	ENST00000367814.4	+	7	977	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MYB_ENST00000533624.1_Missense_Mutation_p.A264V|MYB_ENST00000525369.1_Missense_Mutation_p.A264V|MYB_ENST00000534121.1_Missense_Mutation_p.A264V|MYB_ENST00000442647.2_Missense_Mutation_p.A264V|MYB_ENST00000341911.5_Missense_Mutation_p.A264V|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Missense_Mutation_p.A264V|MYB_ENST00000527615.1_Missense_Mutation_p.A264V|MYB_ENST00000316528.8_Missense_Mutation_p.A264V|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.A264V|MYB_ENST00000420123.2_Missense_Mutation_p.A240V	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	264					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCCTGTAGCGTTACATGTA	0.448			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(790-792)gCg>gTg		v-myb avian myeloblastosis viral oncogene homolog							235.0	206.0	216.0					6																	135515004		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135515004C>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.791C>T	6.37:g.135515004C>T	ENSP00000356788:p.Ala264Val					MYB_ENST00000442647.2_Missense_Mutation_p.A264V|MYB_ENST00000420123.2_Missense_Mutation_p.A240V|MYB_ENST00000316528.8_Missense_Mutation_p.A264V|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.A264V|MYB_ENST00000533624.1_Missense_Mutation_p.A264V|MYB_ENST00000534044.1_Missense_Mutation_p.A264V|MYB_ENST00000527615.1_Missense_Mutation_p.A264V|MYB_ENST00000367814.4_Missense_Mutation_p.A264V|MYB_ENST00000525369.1_Missense_Mutation_p.A264V|MYB_ENST00000528774.1_Missense_Mutation_p.A264V	p.A264V	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	7	990	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	264					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.791C>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855209	0.91355	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.32988	2.67;2.19;2.18;2.19;1.43;1.9;2.67;2.66;1.86;2.27	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.99;0.995;1.0;0.868;1.0	D;D;D;D;D;P;P;D;B;D	0.85130	0.979;0.962;0.994;0.983;0.997;0.661;0.719;0.997;0.099;0.994	T	0.41822	-0.9487	10	0.35671	T	0.21	-7.0423	18.8089	0.92050	0.0:1.0:0.0:0.0	.	264;264;240;264;264;264;264;264;264;264	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	V	264;264;264;264;264;264;240;264;264;264;264;264;218	ENSP00000339992:A264V;ENSP00000410825:A264V;ENSP00000326328:A264V;ENSP00000356788:A264V;ENSP00000433227:A264V;ENSP00000435938:A264V;ENSP00000434723:A264V;ENSP00000432851:A264V;ENSP00000435055:A264V;ENSP00000436605:A264V	ENSP00000237302:A264V	A	+	2	0	MYB	135556697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.204000	0.72143	2.437000	0.82529	0.650000	0.86243	GCG		0.448	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			37	60	0	0	0	1	0	37	60				
DMXL1	1657	broad.mit.edu	37	5	118484954	118484954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484954G>A	ENST00000311085.8	+	18	3512	c.3432G>A	c.(3430-3432)tgG>tgA	p.W1144*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.W1144*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1144										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTAGATTGGATGTCTAGAG	0.368																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(3430-3432)tgG>tgA		Dmx-like 1							87.0	93.0	91.0					5																	118484954		2202	4300	6502	SO:0001587	stop_gained	1657							g.chr5:118484954G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3432G>A	5.37:g.118484954G>A	ENSP00000309690:p.Trp1144*					DMXL1_ENST00000539542.1_Nonsense_Mutation_p.W1144*	p.W1144*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3512	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1144						Nonsense_Mutation	SNP	ENST00000311085.8	37	c.3432G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	41	8.831172	0.98970	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.465	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	1144	.	ENSP00000309690:W1144X	W	+	3	0	DMXL1	118512853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.824000	0.97209	0.655000	0.94253	TGG		0.368	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		31	67	0	0	0	1	0	31	67				
SEL1L3	23231	broad.mit.edu	37	4	25792082	25792082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792082C>T	ENST00000399878.3	-	12	2193	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.A656T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.A538T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	691						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTTACCTGAGCTGCTGCATTG	0.423																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2071-2073)Gct>Act		sel-1 suppressor of lin-12-like 3 (C. elegans)							153.0	150.0	151.0					4																	25792082		1964	4156	6120	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25792082C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2071G>A	4.37:g.25792082C>T	ENSP00000382767:p.Ala691Thr					SEL1L3_ENST00000502949.1_Missense_Mutation_p.A538T|SEL1L3_ENST00000264868.5_Missense_Mutation_p.A656T	p.A691T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			12	2193	-			691					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2071G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195912	0.94960	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.61392	0.11;0.11;0.11	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.108209	0.64402	D	0.000007	T	0.66587	0.2804	L	0.29908	0.895	0.46654	D	0.999146	B;D	0.61697	0.284;0.99	B;D	0.64506	0.235;0.926	T	0.69698	-0.5075	10	0.72032	D	0.01	-14.6547	19.2694	0.94003	0.0:1.0:0.0:0.0	.	98;691	B4DTH5;Q68CR1	.;SE1L3_HUMAN	T	691;656;538	ENSP00000382767:A691T;ENSP00000264868:A656T;ENSP00000425438:A538T	ENSP00000264868:A656T	A	-	1	0	SEL1L3	25401180	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	5.950000	0.70265	2.563000	0.86464	0.557000	0.71058	GCT		0.423	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		18	26	0	0	0	1	0	18	26				
ARFIP1	27236	broad.mit.edu	37	4	153750877	153750877	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153750877G>T	ENST00000451320.2	+	2	256	c.92G>T	c.(91-93)aGg>aTg	p.R31M	ARFIP1_ENST00000356064.3_Splice_Site_p.R31M|ARFIP1_ENST00000429148.2_Splice_Site_p.R31M|ARFIP1_ENST00000353617.2_Splice_Site_p.R31M|ARFIP1_ENST00000405727.2_Splice_Site_p.R31M			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	31					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGCTTTAATAGGGTAAGAACA	0.338																																						ENST00000451320.2																		ARFIP1/FHDC1(2)	0				cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14						c.e2+1		ADP-ribosylation factor interacting protein 1							118.0	123.0	121.0					4																	153750877		2203	4300	6503	SO:0001630	splice_region_variant	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153750877G>T	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.93+1G>T	4.37:g.153750877G>T						ARFIP1_ENST00000353617.2_Splice_Site_p.R31_splice|ARFIP1_ENST00000429148.2_Splice_Site_p.R31_splice|ARFIP1_ENST00000405727.2_Splice_Site_p.R31_splice|ARFIP1_ENST00000356064.3_Splice_Site_p.R31_splice	p.R31_splice			P53367	ARFP1_HUMAN			2	256	+	all_hematologic(180;0.093)		31					Q2M2X4|Q3SYL4|Q9Y2X6	Splice_Site	SNP	ENST00000451320.2	37	c.93_splice	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787805	0.31593	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T;T	0.80566	-1.32;-1.06;-1.32;-1.39;-1.39	5.65	3.89	0.44902	.	0.174702	0.56097	N	0.000022	D	0.83806	0.5334	L	0.50333	1.59	0.48288	D	0.999624	D;B;B	0.69078	0.997;0.306;0.437	D;B;B	0.67103	0.949;0.142;0.115	T	0.82837	-0.0260	10	0.87932	D	0	-1.5708	7.4852	0.27427	0.0771:0.0:0.6272:0.2956	.	31;31;31	B4DS69;Q2M2X4;P53367	.;.;ARFP1_HUMAN	M	31	ENSP00000395083:R31M;ENSP00000396653:R31M;ENSP00000296557:R31M;ENSP00000384189:R31M;ENSP00000348360:R31M	ENSP00000296557:R31M	R	+	2	0	ARFIP1	153970327	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	0.753000	0.26376	0.708000	0.31955	0.557000	0.71058	AGG		0.338	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447	Missense_Mutation	8	80	1	0	5.18039e-06	1	5.91835e-06	8	80				
ENTPD3	956	broad.mit.edu	37	3	40457483	40457483	+	Silent	SNP	C	C	T	rs538265453		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40457483C>T	ENST00000301825.3	+	7	868	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ENTPD3_ENST00000445129.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	250					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGTATGGCTACGTATACACGC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18204	0.001		0.0	False		,,,				2504	0.0					ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(748-750)taC>taT		ectonucleoside triphosphate diphosphohydrolase 3							107.0	88.0	95.0					3																	40457483		2203	4300	6503	SO:0001819	synonymous_variant	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457483C>T	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.750C>T	3.37:g.40457483C>T						ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000452768.1_RNA	p.Y250Y	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	868	+			250					B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	37	c.750C>T	CCDS2691.1																																																																																				0.537	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		8	15	0	0	0	1	0	8	15				
CRLF1	9244	broad.mit.edu	37	19	18710376	18710376	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18710376G>A	ENST00000392386.3	-	2	589	c.396C>T	c.(394-396)ggC>ggT	p.G132G		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	132					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAACTTACGGCCAACATAGA	0.647																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.e2+1		cytokine receptor-like factor 1							34.0	37.0	36.0					19																	18710376		2201	4293	6494	SO:0001630	splice_region_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710376G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.397+1C>T	19.37:g.18710376G>A							p.G132_splice	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	589	-			132					Q9UHH5	Splice_Site	SNP	ENST00000392386.3	37	c.397_splice	CCDS32962.1																																																																																				0.647	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1		Silent	22	24	0	0	0	1	0	22	24				
ST8SIA5	29906	broad.mit.edu	37	18	44260279	44260279	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260279G>A	ENST00000315087.7	-	7	1517	c.857C>T	c.(856-858)tCg>tTg	p.S286L	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	286					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAGTAGCGCGACACGTTGAC	0.617																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(856-858)tCg>tTg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							109.0	81.0	91.0					18																	44260279		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260279G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.857C>T	18.37:g.44260279G>A	ENSP00000321343:p.Ser286Leu					ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L	p.S286L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1517	-			286					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.857C>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664650	0.67700	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.30448	1.53;1.53;1.53	5.51	5.51	0.81932	.	0.144412	0.49305	D	0.000160	T	0.33847	0.0877	L	0.43152	1.355	0.48341	D	0.999633	P;B;D	0.58970	0.948;0.134;0.984	B;B;P	0.47827	0.254;0.067;0.558	T	0.03750	-1.1007	10	0.11182	T	0.66	-5.6475	19.4172	0.94706	0.0:0.0:1.0:0.0	.	255;322;286	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	L	286;322;255	ENSP00000321343:S286L;ENSP00000445492:S322L;ENSP00000443683:S255L	ENSP00000321343:S286L	S	-	2	0	ST8SIA5	42514277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.205000	0.65186	2.584000	0.87258	0.561000	0.74099	TCG		0.617	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		15	30	0	0	0	1	0	15	30				
DOK3	79930	broad.mit.edu	37	5	176931113	176931113	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931113C>T	ENST00000357198.4	-	6	1366	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000501403.2_Silent_p.R398R	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	454	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCAGCCGCCGGTACTGGG	0.677																																						ENST00000501403.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(1192-1194)cgG>cgA		docking protein 3							17.0	20.0	19.0					5																	176931113		2199	4298	6497	SO:0001819	synonymous_variant	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931113C>T	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1362G>A	5.37:g.176931113C>T						DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.R454R|DOK3_ENST00000312943.6_Intron	p.R398R			Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1543	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	454			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	c.1194G>A	CCDS4426.1																																																																																				0.677	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		3	10	0	0	0	1	0	3	10				
DUS1L	64118	broad.mit.edu	37	17	80022791	80022791	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80022791G>T	ENST00000354321.7	-	1	630	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L49M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	49							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGGGCATGCAGCATGGGCGTG	0.692																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(145-147)Ctg>Atg		dihydrouridine synthase 1-like (S. cerevisiae)							68.0	68.0	68.0					17																	80022791		2203	4300	6503	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80022791G>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.145C>A	17.37:g.80022791G>T	ENSP00000346280:p.Leu49Met					DUS1L_ENST00000306796.5_Missense_Mutation_p.L49M	p.L49M			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		1	630	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		49					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.145C>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911710	0.72983	.	.	ENSG00000169718	ENST00000354321;ENST00000306796	T;T	0.31769	1.48;1.48	4.72	2.31	0.28768	Aldolase-type TIM barrel (1);	0.330356	0.28688	N	0.014475	T	0.35008	0.0917	L	0.48877	1.53	0.49130	D	0.999757	B	0.28636	0.218	B	0.42386	0.386	T	0.27468	-1.0073	10	0.45353	T	0.12	-12.2499	11.5122	0.50500	0.1764:0.0:0.8236:0.0	.	49	Q6P1R4	DUS1L_HUMAN	M	49	ENSP00000346280:L49M;ENSP00000303515:L49M	ENSP00000303515:L49M	L	-	1	2	DUS1L	77616080	1.000000	0.71417	0.928000	0.36995	0.986000	0.74619	2.995000	0.49441	0.964000	0.38108	0.655000	0.94253	CTG		0.692	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		5	64	1	0	0.014758	1	0.0152625	5	64				
MYCBP2	23077	broad.mit.edu	37	13	77632512	77632512	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77632512C>T	ENST00000544440.2	-	78	13073	c.13056G>A	c.(13054-13056)acG>acA	p.T4352T	MYCBP2_ENST00000357337.6_Silent_p.T4352T|MYCBP2_ENST00000407578.2_Silent_p.T4390T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACAAGGATGCGTCTTACTAC	0.428																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(13168-13170)acG>acA		MYC binding protein 2, E3 ubiquitin protein ligase							137.0	114.0	122.0					13																	77632512		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77632512C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13056G>A	13.37:g.77632512C>T						MYCBP2_ENST00000357337.6_Silent_p.T4352T|MYCBP2_ENST00000544440.2_Silent_p.T4352T	p.T4390T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	78	13436	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4352						Silent	SNP	ENST00000544440.2	37	c.13170G>A		.	.	.	.	.	.	.	.	.	.	C	9.486	1.099535	0.20552	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.31513	0.0799	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39292	-0.9621	4	.	.	.	.	1.6799	0.02830	0.1876:0.3078:0.3136:0.191	.	.	.	.	T	773	.	.	A	-	1	0	MYCBP2	76530513	0.000000	0.05858	0.801000	0.32222	0.992000	0.81027	-2.110000	0.01334	-2.222000	0.00727	-0.225000	0.12378	GCA		0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		16	24	0	0	0	1	0	16	24				
SIGLEC6	946	broad.mit.edu	37	19	52032990	52032990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52032990G>A	ENST00000425629.3	-	5	1154	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L334F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L282F|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.L318F|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L323F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L345F	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	334					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACAAAGAGACTCAGAGAG	0.577																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(952-954)Ctc>Ttc		sialic acid binding Ig-like lectin 6							35.0	39.0	38.0					19																	52032990		2159	4277	6436	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52032990G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1000C>T	19.37:g.52032990G>A	ENSP00000401502:p.Leu334Phe					SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L334F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L282F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.L334F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L345F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L323F	p.L318F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	1020	-		all_neural(266;0.0199)	334			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.952C>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430086	0.43122	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	3.71	1.28	0.21552	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.231745	0.21925	N	0.067110	D	0.88024	0.6326	M	0.83118	2.625	0.09310	N	1	D;D;D;D;D;D	0.89917	0.994;0.998;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.945;0.983;0.997;0.997;0.988;0.997	T	0.77869	-0.2427	10	0.72032	D	0.01	.	9.452	0.38731	0.0:0.4239:0.5761:0.0	.	345;282;323;334;318;334	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	F	307;318;334;345;282;334	ENSP00000401502:L334F;ENSP00000353071:L345F;ENSP00000410679:L282F;ENSP00000345907:L334F	ENSP00000345907:L334F	L	-	1	0	SIGLEC6	56724802	0.163000	0.22920	0.032000	0.17829	0.073000	0.16967	0.598000	0.24074	0.885000	0.36088	0.514000	0.50259	CTC		0.577	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		14	7	0	0	0	1	0	14	7				
CHN2	1124	broad.mit.edu	37	7	29552185	29552185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29552185C>T	ENST00000222792.6	+	13	1771	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I	CHN2_ENST00000424025.2_Missense_Mutation_p.T233I|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000409041.4_Missense_Mutation_p.T278I|CHN2_ENST00000439711.2_Missense_Mutation_p.T232I|CHN2_ENST00000435288.2_Missense_Mutation_p.T138I|CHN2_ENST00000539389.1_Missense_Mutation_p.T270I|CHN2_ENST00000539406.1_Missense_Mutation_p.T489I|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000421775.2_Missense_Mutation_p.T220I|CHN2_ENST00000495789.2_Missense_Mutation_p.T427I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.T399I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	414	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGCAGGGTTACTATGAATGAA	0.423																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(1240-1242)aCt>aTt		chimerin 2							73.0	77.0	75.0					7																	29552185		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552185C>T	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1241C>T	7.37:g.29552185C>T	ENSP00000222792:p.Thr414Ile					CHN2_ENST00000421775.2_Missense_Mutation_p.T220I|CHN2_ENST00000424025.2_Missense_Mutation_p.T233I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000409041.4_Missense_Mutation_p.T278I|CHN2_ENST00000435288.2_Missense_Mutation_p.T138I|CHN2_ENST00000439711.2_Missense_Mutation_p.T232I|CHN2_ENST00000539389.1_Missense_Mutation_p.T270I|CHN2_ENST00000495789.2_Missense_Mutation_p.T427I|CHN2_ENST00000546235.1_Missense_Mutation_p.T399I|CHN2_ENST00000539406.1_Missense_Mutation_p.T489I	p.T414I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			13	1771	+			414			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1241C>T	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869596	0.51588	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.088727	0.85682	D	0.000000	T	0.30510	0.0767	L	0.33668	1.02	0.80722	D	1	B;B;D;D;B;B;D;B;B;P;B;P;B;P	0.58268	0.022;0.02;0.969;0.961;0.09;0.02;0.982;0.197;0.037;0.832;0.097;0.903;0.09;0.903	B;B;B;B;B;B;P;B;B;B;B;B;B;B	0.53062	0.015;0.04;0.382;0.419;0.097;0.023;0.717;0.261;0.023;0.388;0.037;0.382;0.097;0.382	T	0.01757	-1.1280	10	0.72032	D	0.01	.	19.1587	0.93522	0.0:1.0:0.0:0.0	.	207;399;427;489;233;187;206;174;232;220;270;414;278;414	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	I	489;414;138;427;270;399;278;233;232;220	ENSP00000444063:T489I;ENSP00000222792:T414I;ENSP00000400282:T138I;ENSP00000438587:T427I;ENSP00000440526:T270I;ENSP00000442812:T399I;ENSP00000386849:T278I;ENSP00000406337:T233I;ENSP00000387425:T232I;ENSP00000394284:T220I	ENSP00000222792:T414I	T	+	2	0	CHN2	29518710	1.000000	0.71417	0.766000	0.31476	0.946000	0.59487	7.776000	0.85560	2.699000	0.92147	0.650000	0.86243	ACT		0.423	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		18	52	0	0	0	1	0	18	52				
LTBP1	4052	broad.mit.edu	37	2	33518329	33518329	+	Missense_Mutation	SNP	C	C	T	rs150123521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33518329C>T	ENST00000404816.2	+	20	3568	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	LTBP1_ENST00000407925.1_Missense_Mutation_p.P746L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P746L|LTBP1_ENST00000272273.5_Missense_Mutation_p.P12L|LTBP1_ENST00000404525.1_Missense_Mutation_p.P693L|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1073L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P747L|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.P693L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1072	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCCGGACTCCGGACCACAAG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		17967	0.0		0.001	False		,,,				2504	0.0					ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3214-3216)cCg>cTg		latent transforming growth factor beta binding protein 1		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	92.0	84.0	87.0		2237,2237,2078,2078,3215	5.7	0.4	2	dbSNP_134	87	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	98,98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	746/1396,746/1354,693/1343,693/1301,1072/1722	33518329	1,13005	2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33518329C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3215C>T	2.37:g.33518329C>T	ENSP00000386043:p.Pro1072Leu					LTBP1_ENST00000402934.1_Missense_Mutation_p.P693L|LTBP1_ENST00000404525.1_Missense_Mutation_p.P693L|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1073L|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000272273.5_Missense_Mutation_p.P12L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P747L|LTBP1_ENST00000407925.1_Missense_Mutation_p.P746L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P746L	p.P1072L			Q14766	LTBP1_HUMAN			20	3568	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1072			EGF-like 8; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3215C>T	CCDS33177.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.26	3.343470	0.61073	2.27E-4	0.0	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.23	5.66	5.66	0.87406	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.83514	0.5271	M	0.64630	1.985	0.54753	D	0.999989	P;B;B;B;B;B;B	0.41475	0.751;0.1;0.017;0.01;0.082;0.082;0.016	B;B;B;B;B;B;B	0.27796	0.083;0.036;0.017;0.008;0.014;0.014;0.014	D	0.86018	0.1505	9	0.62326	D	0.03	.	17.2525	0.87046	0.0:1.0:0.0:0.0	.	12;1072;746;693;746;747;1073	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	L	1072;1073;747;746;693;693;746;12	ENSP00000386043:P1072L;ENSP00000346467:P1073L;ENSP00000374653:P747L;ENSP00000393057:P746L;ENSP00000384373:P693L;ENSP00000385359:P693L;ENSP00000384091:P746L;ENSP00000272273:P12L	ENSP00000272273:P12L	P	+	2	0	LTBP1	33371833	0.069000	0.21087	0.434000	0.26772	0.862000	0.49288	2.084000	0.41625	2.663000	0.90544	0.555000	0.69702	CCG		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		22	28	0	0	0	1	0	22	28				
ZNF148	7707	broad.mit.edu	37	3	124952746	124952746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124952746C>T	ENST00000360647.4	-	9	1309	c.824G>A	c.(823-825)cGt>cAt	p.R275H	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.R275H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R275H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R275H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	275					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATGGCACATACGTTTATGTTT	0.373																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(823-825)cGt>cAt		zinc finger protein 148							73.0	74.0	74.0					3																	124952746		2201	4296	6497	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952746C>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.824G>A	3.37:g.124952746C>T	ENSP00000353863:p.Arg275His					ZNF148_ENST00000492394.1_Missense_Mutation_p.R275H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R275H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.R275H	p.R275H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	1309	-			275					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.824G>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567179	0.86439	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	L	0.27053	0.805	0.80722	D	1	P	0.46578	0.88	B	0.43331	0.416	T	0.00704	-1.1602	10	0.87932	D	0	-7.252	19.9142	0.97043	0.0:1.0:0.0:0.0	.	275	Q9UQR1	ZN148_HUMAN	H	275	ENSP00000353863:R275H;ENSP00000420335:R275H;ENSP00000419322:R275H;ENSP00000420448:R275H	ENSP00000353863:R275H	R	-	2	0	ZNF148	126435436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGT		0.373	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		37	50	0	0	0	1	0	37	50				
SLC37A1	54020	broad.mit.edu	37	21	43987140	43987140	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43987140T>G	ENST00000352133.2	+	16	2298	c.1316T>G	c.(1315-1317)cTc>cGc	p.L439R	SLC37A1_ENST00000398341.3_Missense_Mutation_p.L439R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	439					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CCCTACACACTCATCACCACC	0.622																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(1315-1317)cTc>cGc		solute carrier family 37 (glucose-6-phosphate transporter), member 1							51.0	39.0	43.0					21																	43987140		2203	4300	6503	SO:0001583	missense	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43987140T>G	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1316T>G	21.37:g.43987140T>G	ENSP00000344648:p.Leu439Arg					SLC37A1_ENST00000398341.3_Missense_Mutation_p.L439R	p.L439R			P57057	GLPT_HUMAN			16	2298	+			439					D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	c.1316T>G	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057659	0.76074	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.59772	0.24;0.24	4.7	4.7	0.59300	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85599	0.1251	10	0.87932	D	0	-22.4888	12.456	0.55704	0.0:0.0:0.0:1.0	.	439	P57057	GLPT_HUMAN	R	439	ENSP00000381383:L439R;ENSP00000344648:L439R	ENSP00000344648:L439R	L	+	2	0	SLC37A1	42860209	1.000000	0.71417	0.580000	0.28601	0.786000	0.44442	7.005000	0.76323	1.900000	0.55004	0.460000	0.39030	CTC		0.622	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			13	18	0	0	0	1	0	13	18				
ARL6IP5	10550	broad.mit.edu	37	3	69151036	69151036	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69151036C>T	ENST00000273258.3	+	2	327	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	75					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CGTGGTGGTGCTGGTGTTCAC	0.502																																						ENST00000273258.3																			0				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(223-225)Ctg>Ttg		ADP-ribosylation-like factor 6 interacting protein 5							133.0	111.0	119.0					3																	69151036		2203	4300	6503	SO:0001819	synonymous_variant	10550				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:69151036C>T	AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.223C>T	3.37:g.69151036C>T						ARL6IP5_ENST00000478935.1_Intron	p.L75L	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)	2	327	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	75					B2R6V5|Q53ES3|Q5KU08	Silent	SNP	ENST00000273258.3	37	c.223C>T	CCDS2912.1																																																																																				0.502	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352132.1	NM_006407		12	22	0	0	0	1	0	12	22				
LDB3	11155	broad.mit.edu	37	10	88446979	88446979	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88446979C>T	ENST00000372066.3	+	5	577	c.498C>T	c.(496-498)atC>atT	p.I166I	LDB3_ENST00000361373.4_Intron|LDB3_ENST00000372056.4_Silent_p.I281I|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000429277.2_Silent_p.I281I|LDB3_ENST00000458213.2_Silent_p.I166I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Silent_p.I166I	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGGATGCCATCATGGATGCCA	0.632																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(841-843)atC>atT		LIM domain binding 3							106.0	123.0	117.0					10																	88446979		2172	4262	6434	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88446979C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.498C>T	10.37:g.88446979C>T						LDB3_ENST00000458213.2_Silent_p.I166I|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Silent_p.I166I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Silent_p.I281I|LDB3_ENST00000372066.3_Silent_p.I166I|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000310944.6_Intron	p.I281I	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			6	988	+			271						Silent	SNP	ENST00000372066.3	37	c.843C>T	CCDS41545.1																																																																																				0.632	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			43	74	0	0	0	1	0	43	74				
FAM13A	10144	broad.mit.edu	37	4	89827531	89827531	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89827531T>C	ENST00000264344.5	-	6	1049	c.842A>G	c.(841-843)aAg>aGg	p.K281R	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Splice_Site_p.K72R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	281					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ATAGTTTACCTTGGTTTTTGG	0.358																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.e6+1		family with sequence similarity 13, member A							339.0	356.0	351.0					4																	89827531		2203	4300	6503	SO:0001630	splice_region_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89827531T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.843+1A>G	4.37:g.89827531T>C						FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Splice_Site_p.K72_splice	p.K281_splice	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			6	1049	-			281					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Splice_Site	SNP	ENST00000264344.5	37	c.843_splice	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	9.422	1.083353	0.20309	.	.	ENSG00000138640	ENST00000264344;ENST00000511976	T;T	0.35605	2.16;1.3	4.42	1.44	0.22558	.	0.353602	0.25414	N	0.030846	T	0.14056	0.0340	N	0.04959	-0.14	0.80722	D	1	B;B	0.16166	0.002;0.016	B;B	0.12837	0.004;0.008	T	0.09079	-1.0691	10	0.16420	T	0.52	.	5.9203	0.19078	0.0:0.2735:0.0:0.7265	.	72;281	E9PGM7;O94988	.;FA13A_HUMAN	R	281;72	ENSP00000264344:K281R;ENSP00000421914:K72R	ENSP00000264344:K281R	K	-	2	0	FAM13A	90046554	1.000000	0.71417	0.902000	0.35471	0.243000	0.25628	1.094000	0.30951	0.266000	0.21894	0.533000	0.62120	AAG		0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		Missense_Mutation	20	451	0	0	0	1	0	20	451				
ERMN	57471	broad.mit.edu	37	2	158178124	158178124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158178124G>A	ENST00000410096.1	-	3	805	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	ERMN_ENST00000397283.2_Missense_Mutation_p.H185Y|ERMN_ENST00000535935.1_Missense_Mutation_p.H66Y|ERMN_ENST00000420719.2_Missense_Mutation_p.H152Y	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	172					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGTTTAGAATGTAACATGTCA	0.398																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(514-516)Cat>Tat		ermin, ERM-like protein							176.0	165.0	168.0					2																	158178124		1936	4145	6081	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158178124G>A	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.514C>T	2.37:g.158178124G>A	ENSP00000387047:p.His172Tyr					ERMN_ENST00000397283.2_Missense_Mutation_p.H185Y|ERMN_ENST00000535935.1_Missense_Mutation_p.H66Y|ERMN_ENST00000420719.2_Missense_Mutation_p.H152Y	p.H172Y	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	805	-			172					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.514C>T	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019767	0.35606	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.83	2.68	0.31781	.	0.985346	0.08308	N	0.965803	T	0.31544	0.0800	L	0.29908	0.895	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.10450	0.005;0.005;0.005	T	0.26292	-1.0107	9	0.51188	T	0.08	-20.8909	7.4769	0.27382	0.0844:0.0:0.6093:0.3062	.	152;185;172	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	Y	172;185;66;152	.	ENSP00000380453:H185Y	H	-	1	0	ERMN	157886370	0.078000	0.21339	0.175000	0.22980	0.748000	0.42578	1.007000	0.29860	0.776000	0.33473	0.655000	0.94253	CAT		0.398	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		38	95	0	0	0	1	0	38	95				
DDX41	51428	broad.mit.edu	37	5	176939798	176939798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176939798G>A	ENST00000507955.1	-	13	1905	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	DOK3_ENST00000377112.4_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	461	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCCATGGATGGCTACGGCCTC	0.587																																						ENST00000507955.1																			0											c.(1381-1383)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							157.0	140.0	146.0					5																	176939798		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176939798G>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1382C>T	5.37:g.176939798G>A	ENSP00000422753:p.Ala461Val						p.A461V	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		13	1905	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	461			Helicase C-terminal.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1382C>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303359	0.95601	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.74526	-0.85;-0.85	5.91	5.91	0.95273	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	N	0.13235	0.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.81940	-0.0703	10	0.87932	D	0	-30.5596	20.2857	0.98533	0.0:0.0:1.0:0.0	.	335;461	B3KRK2;Q9UJV9	.;DDX41_HUMAN	V	479;461	ENSP00000330349:A479V;ENSP00000422753:A461V	ENSP00000330349:A479V	A	-	2	0	DDX41	176872404	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.762000	0.98944	2.803000	0.96430	0.650000	0.86243	GCC		0.587	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		39	58	0	0	0	1	0	39	58				
MOV10L1	54456	broad.mit.edu	37	22	50558970	50558970	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50558970T>C	ENST00000262794.5	+	10	1577	c.1494T>C	c.(1492-1494)taT>taC	p.Y498Y	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.Y498Y|MOV10L1_ENST00000545383.1_Silent_p.Y498Y|MOV10L1_ENST00000540615.1_Silent_p.Y478Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	498					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTCCCCAATATCCAATCCCAG	0.378																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1492-1494)taT>taC		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							118.0	119.0	118.0					22																	50558970		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50558970T>C	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1494T>C	22.37:g.50558970T>C						MOV10L1_ENST00000540615.1_Silent_p.Y478Y|MOV10L1_ENST00000545383.1_Silent_p.Y498Y|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.Y498Y	p.Y498Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	10	1577	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	498					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.1494T>C	CCDS14084.1																																																																																				0.378	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		8	126	0	0	0	1	0	8	126				
LY9	4063	broad.mit.edu	37	1	160786519	160786519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160786519C>T	ENST00000263285.6	+	5	1238	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	LY9_ENST00000368037.5_Missense_Mutation_p.A403V|LY9_ENST00000368041.2_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.A55V			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	403	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGAAGGAAGCTGTTGTGTCC	0.557																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1207-1209)gCt>gTt		lymphocyte antigen 9							145.0	118.0	127.0					1																	160786519		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160786519C>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1208C>T	1.37:g.160786519C>T	ENSP00000263285:p.Ala403Val					LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.A55V|LY9_ENST00000368040.1_Missense_Mutation_p.A55V	p.A403V	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	1238	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		403			Ig-like C2-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1208C>T	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219717	0.58560	.	.	ENSG00000122224	ENST00000368041;ENST00000368040;ENST00000263285;ENST00000368037;ENST00000368035	T;T;T	0.38722	1.12;1.12;1.12	4.76	4.76	0.60689	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40423	0.1116	M	0.72118	2.19	0.09310	N	1	B;D;D	0.56968	0.186;0.972;0.978	B;P;P	0.53006	0.124;0.592;0.715	T	0.22277	-1.0221	9	0.30854	T	0.27	-2.3783	13.6423	0.62257	0.0:1.0:0.0:0.0	.	55;403;403	Q5VYI1;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	V	403;55;403;363;55	ENSP00000357019:A55V;ENSP00000263285:A403V;ENSP00000357014:A55V	ENSP00000263285:A403V	A	+	2	0	LY9	159053143	0.001000	0.12720	0.020000	0.16555	0.018000	0.09664	1.123000	0.31308	2.328000	0.79073	0.563000	0.77884	GCT		0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		25	27	0	0	0	1	0	25	27				
MGAT1	4245	broad.mit.edu	37	5	180218882	180218882	+	Missense_Mutation	SNP	C	C	T	rs371940522		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218882C>T	ENST00000446023.2	-	3	1840	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	MGAT1_ENST00000393340.3_Missense_Mutation_p.G364S|MGAT1_ENST00000307826.4_Missense_Mutation_p.G364S|MGAT1_ENST00000333055.3_Missense_Mutation_p.G364S|MGAT1_ENST00000427865.2_Missense_Mutation_p.G364S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	364					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGGAGCACCGTAGACGCGG	0.587																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(1090-1092)Ggt>Agt		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	72.0	69.0	70.0		1090,1090,1090,1090,1090	4.7	0.1	5		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	MGAT1	NM_002406.3,NM_001114620.1,NM_001114619.1,NM_001114618.1,NM_001114617.1	56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	364/446,364/446,364/446,364/446,364/446	180218882	1,13005	2203	4300	6503	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180218882C>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1090G>A	5.37:g.180218882C>T	ENSP00000404718:p.Gly364Ser					MGAT1_ENST00000333055.3_Missense_Mutation_p.G364S|MGAT1_ENST00000427865.2_Missense_Mutation_p.G364S|MGAT1_ENST00000307826.4_Missense_Mutation_p.G364S|MGAT1_ENST00000393340.3_Missense_Mutation_p.G364S	p.G364S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1840	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	364					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.1090G>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.574453	0.00887	0.0	1.16E-4	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.74	4.74	0.60224	.	0.243118	0.41001	D	0.000964	T	0.61540	0.2355	N	0.03029	-0.43	0.19575	N	0.999963	B	0.02656	0.0	B	0.04013	0.001	T	0.25745	-1.0123	10	0.06891	T	0.86	-11.0497	15.6162	0.76769	0.0:1.0:0.0:0.0	.	364	P26572	MGAT1_HUMAN	S	364;364;364;364;221;364	ENSP00000332073:G364S;ENSP00000311888:G364S;ENSP00000404718:G364S;ENSP00000377010:G364S;ENSP00000402838:G364S	ENSP00000311888:G364S	G	-	1	0	MGAT1	180151488	0.000000	0.05858	0.094000	0.20943	0.001000	0.01503	0.407000	0.21049	2.621000	0.88768	0.655000	0.94253	GGT		0.587	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		4	55	0	0	0	1	0	4	55				
B4GALNT4	338707	broad.mit.edu	37	11	373108	373108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:373108C>T	ENST00000329962.6	+	5	527	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	176					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.A176E(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCACCCGGCGAGGGACGGT	0.627																																						ENST00000329962.6																			1	Substitution - Missense(1)	p.A176E(1)	lung(1)	endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(526-528)gCg>gTg		beta-1,4-N-acetyl-galactosaminyl transferase 4							69.0	73.0	72.0					11																	373108		2202	4294	6496	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373108C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.527C>T	11.37:g.373108C>T	ENSP00000328277:p.Ala176Val						p.A176V	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	527	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	176					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.527C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698478	0.15106	.	.	ENSG00000182272	ENST00000329962	T	0.22743	1.94	3.44	2.42	0.29668	PA14 (2);	1.188700	0.06252	N	0.692201	T	0.13756	0.0333	L	0.43152	1.355	0.09310	N	1	P	0.36874	0.572	B	0.29598	0.104	T	0.22941	-1.0202	10	0.19590	T	0.45	-8.5107	3.0085	0.06037	0.4452:0.3894:0.0:0.1654	.	176	Q76KP1	B4GN4_HUMAN	V	176	ENSP00000328277:A176V	ENSP00000328277:A176V	A	+	2	0	B4GALNT4	363108	0.017000	0.18338	0.631000	0.29282	0.256000	0.26092	1.966000	0.40481	1.928000	0.55862	0.478000	0.44815	GCG		0.627	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		26	28	0	0	0	1	0	26	28				
RAI1	10743	broad.mit.edu	37	17	17696960	17696960	+	Missense_Mutation	SNP	C	C	G	rs34551516		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696960C>G	ENST00000353383.1	+	3	1167	c.698C>G	c.(697-699)gCc>gGc	p.A233G	RAI1_ENST00000261641.6_Missense_Mutation_p.A233G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	233	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGGCAGGGGGCCCACTCCTAT	0.652																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(697-699)gCc>gGc		retinoic acid induced 1							37.0	40.0	39.0					17																	17696960		2202	4299	6501	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696960C>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.698C>G	17.37:g.17696960C>G	ENSP00000323074:p.Ala233Gly					RAI1_ENST00000261641.6_Missense_Mutation_p.A233G	p.A233G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1167	+			233			Gln-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.698C>G	CCDS11188.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.129|5.129	0.209496|0.209496	0.09757|0.09757	.|.	.|.	ENSG00000108557|ENSG00000108557	ENST00000315321|ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641	.|T;T;T	.|0.64618	.|-0.11;2.6;0.49	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.186526	.|0.36932	.|N	.|0.002324	.|T	.|0.49525	.|0.1562	L|L	0.29908|0.29908	0.895|0.895	0.32203|0.32203	N|N	0.577524|0.577524	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	.|T	.|0.57353	.|-0.7826	.|10	.|0.48119	.|T	.|0.1	.|.	12.2746|12.2746	0.54728|0.54728	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	.|233	.|Q7Z5J4	.|RAI1_HUMAN	.|G	-1|233	.|ENSP00000323074:A233G;ENSP00000379120:A233G;ENSP00000261641:A233G	.|ENSP00000261641:A233G	.|A	+|+	.|2	.|0	RAI1|RAI1	17637685|17637685	0.000000|0.000000	0.05858|0.05858	0.971000|0.971000	0.41717|0.41717	0.051000|0.051000	0.14879|0.14879	0.958000|0.958000	0.29227|0.29227	2.203000|2.203000	0.70933|0.70933	0.491000|0.491000	0.48974|0.48974	.|GCC		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		5	58	0	0	0	1	0	5	58				
TMC2	117532	broad.mit.edu	37	20	2621951	2621951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2621951C>T	ENST00000358864.1	+	20	2690	c.2675C>T	c.(2674-2676)cCg>cTg	p.P892L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	892					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGACTCATCCGTGGAGGTCA	0.602																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2674-2676)cCg>cTg		transmembrane channel-like 2							60.0	56.0	57.0					20																	2621951		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2621951C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2675C>T	20.37:g.2621951C>T	ENSP00000351732:p.Pro892Leu						p.P892L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			20	2690	+			892					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2675C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	2.423	-0.332584	0.05314	.	.	ENSG00000149488	ENST00000358864	T	0.66995	-0.24	4.54	1.48	0.22813	.	0.538685	0.16225	N	0.223864	T	0.49712	0.1573	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41574	-0.9501	10	0.49607	T	0.09	-3.4982	10.0776	0.42370	0.0:0.8069:0.0:0.1931	.	892	Q8TDI7	TMC2_HUMAN	L	892	ENSP00000351732:P892L	ENSP00000351732:P892L	P	+	2	0	TMC2	2569951	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.026000	0.12392	0.217000	0.20800	-1.314000	0.01303	CCG		0.602	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			22	22	0	0	0	1	0	22	22				
ANGPTL2	23452	broad.mit.edu	37	9	129870903	129870903	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129870903T>C	ENST00000373425.3	-	2	725	c.108A>G	c.(106-108)agA>agG	p.R36R	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000491991.1_5'Flank|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	36					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AAATGAACTCTCTTGGCGAGC	0.607																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(106-108)agA>agG		angiopoietin-like 2							72.0	61.0	65.0					9																	129870903		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870903T>C	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.108A>G	9.37:g.129870903T>C						RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron	p.R36R	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	725	-			36					Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.108A>G	CCDS6868.1																																																																																				0.607	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		4	47	0	0	0	1	0	4	47				
SH3GLB1	51100	broad.mit.edu	37	1	87208030	87208030	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87208030C>A	ENST00000370558.4	+	8	1225	c.901C>A	c.(901-903)Ctt>Att	p.L301I	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.L322I|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.L201I	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	301					'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CCTCAGTGACCTTAAGGAGTG	0.453																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(901-903)Ctt>Att		SH3-domain GRB2-like endophilin B1							136.0	118.0	124.0					1																	87208030		2203	4300	6503	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87208030C>A	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.901C>A	1.37:g.87208030C>A	ENSP00000473267:p.Leu301Ile					SH3GLB1_ENST00000535010.1_Missense_Mutation_p.L201I|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.L322I	p.L301I	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	8	1225	+		Lung NSC(277;0.209)	301					B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.901C>A	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410004	0.42715	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.32272	1.49;1.46	5.67	2.4	0.29515	Src homology-3 domain (1);	0.261631	0.38492	N	0.001675	T	0.10423	0.0255	N	0.08118	0	0.47737	D	0.999506	P;P;B	0.52842	0.926;0.956;0.06	P;P;B	0.51487	0.448;0.671;0.03	T	0.05419	-1.0886	10	0.34782	T	0.22	5.1478	7.9231	0.29859	0.1328:0.6938:0.0:0.1734	.	201;322;301	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	I	301;201;322	ENSP00000441355:L201I;ENSP00000418744:L322I	ENSP00000212369:L301I	L	+	1	0	SH3GLB1	86980618	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	1.641000	0.37197	0.748000	0.32831	-0.319000	0.08680	CTT		0.453	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		26	77	1	0	3.17567e-06	1	3.64554e-06	26	77				
MUC1	4582	broad.mit.edu	37	1	155161934	155161934	+	Missense_Mutation	SNP	C	C	T	rs149173724	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155161934C>T	ENST00000368395.1	-	2	270	c.199G>A	c.(199-201)Ggt>Agt	p.G67S	MUC1_ENST00000343256.5_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	849					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGCCTGAACCGGGGCTGTGG	0.587			T	IGH@	B-NHL								C|||	2	0.000399361	0.0008	0.0	5008	,	,		12308	0.0		0.001	False		,,,				2504	0.0					ENST00000368395.1				Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(199-201)Ggt>Agt		mucin 1, cell surface associated							112.0	113.0	113.0					1																	155161934		2203	4300	6503	SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161934C>T	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.199G>A	1.37:g.155161934C>T	ENSP00000357380:p.Gly67Ser					MUC1_ENST00000368396.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000457295.2_Intron	p.G67S	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	270	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		849					A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.199G>A	CCDS55640.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.436	0.265660	0.10294	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.17054	2.3	2.79	0.886	0.19194	.	8.364240	0.01099	N	0.005334	T	0.01592	0.0051	N	0.08118	0	0.09310	N	0.999999	B	0.30146	0.27	B	0.17433	0.018	T	0.23084	-1.0198	10	0.06236	T	0.91	.	4.6229	0.12463	0.0:0.6872:0.0:0.3128	.	67	P15941	MUC1_HUMAN	S	67	ENSP00000357380:G67S	ENSP00000357380:G67S	G	-	1	0	MUC1	153428558	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.135000	0.10420	0.252000	0.21531	0.491000	0.48974	GGT		0.587	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		54	73	0	0	0	1	0	54	73				
OR2M7	391196	broad.mit.edu	37	1	248487549	248487549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248487549G>A	ENST00000317965.2	-	1	350	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGAGCCAAGCAATGATATA	0.453																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(322-324)Ctt>Ttt		olfactory receptor, family 2, subfamily M, member 7							199.0	205.0	203.0					1																	248487549		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487549G>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.322C>T	1.37:g.248487549G>A	ENSP00000324557:p.Leu108Phe						p.L108F	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	350	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		108					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.322C>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.802388	0.00611	.	.	ENSG00000177186	ENST00000317965	T	0.00402	7.56	1.54	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	1.588960	0.04648	U	0.406503	T	0.00210	0.0006	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.37056	-0.9722	10	0.09084	T	0.74	.	1.8863	0.03238	0.1382:0.1444:0.1764:0.5409	.	108	Q8NG81	OR2M7_HUMAN	F	108	ENSP00000324557:L108F	ENSP00000324557:L108F	L	-	1	0	OR2M7	246554172	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.111000	0.01333	-0.708000	0.05015	0.184000	0.17185	CTT		0.453	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		11	214	0	0	0	1	0	11	214				
RNF219	79596	broad.mit.edu	37	13	79233233	79233233	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79233233A>C	ENST00000282003.6	-	1	81	c.23T>G	c.(22-24)gTt>gGt	p.V8G		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	8							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CGACAATGTAACATTCTGCAC	0.577																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(22-24)gTt>gGt		ring finger protein 219							114.0	82.0	92.0					13																	79233233		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79233233A>C	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.23T>G	13.37:g.79233233A>C	ENSP00000282003:p.Val8Gly						p.V8G	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	1	81	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	8					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.23T>G	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317746	0.81469	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.06	5.06	0.68205	.	0.135423	0.51477	D	0.000097	T	0.64702	0.2622	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.68269	-0.5453	9	0.72032	D	0.01	-8.5049	13.2132	0.59836	1.0:0.0:0.0:0.0	.	8	Q5W0B1	RN219_HUMAN	G	8	.	ENSP00000282003:V8G	V	-	2	0	RNF219	78131234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.377000	0.66184	2.123000	0.65237	0.533000	0.62120	GTT		0.577	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		5	4	0	0	0	1	0	5	4				
DYSF	8291	broad.mit.edu	37	2	71801428	71801428	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71801428G>A	ENST00000258104.3	+	30	3552	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	DYSF_ENST00000409366.1_Missense_Mutation_p.R1093H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1093H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1124H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1092H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1110H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1079H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1123H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1109H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1109H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1110H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1092	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCGCCGCCGCCGCTGGCGC	0.662																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3274-3276)cGc>cAc		dysferlin							62.0	75.0	71.0					2																	71801428		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801428G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3275G>A	2.37:g.71801428G>A	ENSP00000258104:p.Arg1092His					DYSF_ENST00000413539.2_Missense_Mutation_p.R1123H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1079H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1110H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1109H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1110H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1093H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1109H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1124H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1093H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1092H	p.R1092H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			30	3552	+			1092			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3275G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486924	0.96323	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.66	5.6	5.6	0.85130	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.86178	2.8	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.998;0.998;0.998;0.998;1.0;0.999;1.0;0.993;0.999;0.999	D	0.95879	0.8897	10	0.62326	D	0.03	-23.9965	17.1013	0.86651	0.0:0.0:1.0:0.0	.	1124;1110;1093;1079;1110;1079;1109;1078;1123;1109;1092;1078;1093;1092	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1123;1109;1109;1092;1092;1124;1093;1079;1093;1110;1110	ENSP00000407046:R1123H;ENSP00000387137:R1109H;ENSP00000386547:R1109H;ENSP00000398305:R1092H;ENSP00000258104:R1092H;ENSP00000386683:R1124H;ENSP00000377678:R1093H;ENSP00000386285:R1079H;ENSP00000386512:R1093H;ENSP00000386881:R1110H;ENSP00000386617:R1110H	ENSP00000258104:R1092H	R	+	2	0	DYSF	71654936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.322000	0.96357	2.627000	0.88993	0.650000	0.86243	CGC		0.662	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		46	77	0	0	0	1	0	46	77				
NPAS2	4862	broad.mit.edu	37	2	101591354	101591354	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101591354G>A	ENST00000335681.5	+	13	1515	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Silent_p.A475A|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	410					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCATCGGCGTCCTCAAGAA	0.562																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1228-1230)gcG>gcA		neuronal PAS domain protein 2							104.0	89.0	94.0					2																	101591354		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591354G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1230G>A	2.37:g.101591354G>A						NPAS2_ENST00000542504.1_Silent_p.A475A|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	p.A410A	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			13	1515	+			410					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1230G>A	CCDS2048.1																																																																																				0.562	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			16	29	0	0	0	1	0	16	29				
DMTN	2039	broad.mit.edu	37	8	21938907	21938907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21938907C>A	ENST00000523266.1	+	16	1613	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	DMTN_ENST00000443491.2_Missense_Mutation_p.P337H|DMTN_ENST00000523782.2_Missense_Mutation_p.P337H|DMTN_ENST00000519907.1_Missense_Mutation_p.P362H|DMTN_ENST00000358242.3_Missense_Mutation_p.P384H|DMTN_ENST00000432128.1_Missense_Mutation_p.P384H|DMTN_ENST00000265800.5_Missense_Mutation_p.P384H|DMTN_ENST00000415253.1_Missense_Mutation_p.P362H|DMTN_ENST00000381470.3_Missense_Mutation_p.P362H|DMTN_ENST00000517600.1_Missense_Mutation_p.P344H	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	384	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GCCATGTCCCCTGAAGAGTTT	0.607																																						ENST00000358242.3																			0											c.(1150-1152)cCt>cAt		dematin actin binding protein							123.0	122.0	123.0					8																	21938907		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21938907C>A	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.1151C>A	8.37:g.21938907C>A	ENSP00000427866:p.Pro384His					DMTN_ENST00000517600.1_Missense_Mutation_p.P344H|DMTN_ENST00000265800.5_Missense_Mutation_p.P384H|DMTN_ENST00000523782.2_Missense_Mutation_p.P337H|DMTN_ENST00000523266.1_Missense_Mutation_p.P384H|DMTN_ENST00000415253.1_Missense_Mutation_p.P362H|DMTN_ENST00000443491.2_Missense_Mutation_p.P337H|DMTN_ENST00000381470.3_Missense_Mutation_p.P362H|DMTN_ENST00000432128.1_Missense_Mutation_p.P384H|DMTN_ENST00000519907.1_Missense_Mutation_p.P362H	p.P384H							16	1644	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.1151C>A	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634634	0.47049	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.43688	1.53;1.53;1.53;0.94;1.53;1.53;1.53;1.53;1.53	4.97	4.97	0.65823	Villin headpiece (5);	0.882556	0.09305	N	0.820336	T	0.61211	0.2329	L	0.49126	1.545	0.33332	D	0.568698	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.997;0.997;0.998	D;D;D;D;D;P	0.91635	0.999;0.947;0.961;0.923;0.953;0.865	T	0.63510	-0.6621	10	0.87932	D	0	.	13.7176	0.62708	0.0:1.0:0.0:0.0	.	323;344;384;337;337;362	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	H	362;384;337;344;344;384;323;384;362;384;362	ENSP00000370879:P362H;ENSP00000416111:P384H;ENSP00000397904:P337H;ENSP00000430618:P344H;ENSP00000265800:P384H;ENSP00000350977:P384H;ENSP00000401291:P362H;ENSP00000427866:P384H;ENSP00000429377:P362H	ENSP00000265800:P384H	P	+	2	0	EPB49	21994853	0.346000	0.24844	0.739000	0.30968	0.275000	0.26752	2.613000	0.46351	2.328000	0.79073	0.455000	0.32223	CCT		0.607	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		6	57	1	0	0.00116845	1	0.00124821	6	57				
TRMT13	54482	broad.mit.edu	37	1	100614354	100614354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100614354C>A	ENST00000370141.2	+	11	1430	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	475					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AATCATTCTTCATCACCAGAA	0.313																																						ENST00000370141.2																			0											c.(1423-1425)tCa>tAa		tRNA methyltransferase 13 homolog (S. cerevisiae)							51.0	55.0	54.0					1																	100614354		2203	4300	6503	SO:0001587	stop_gained	54482							g.chr1:100614354C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1424C>A	1.37:g.100614354C>A	ENSP00000359160:p.Ser475*						p.S475*	NM_019083.2	NP_061956.2					11	1430	+								Q5VVL0|Q9NW65	Nonsense_Mutation	SNP	ENST00000370141.2	37	c.1424C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	8.372	0.835591	0.16820	.	.	ENSG00000122435	ENST00000370141	.	.	.	5.48	4.57	0.56435	.	0.382752	0.27181	N	0.020541	.	.	.	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3017	5.782	0.18312	0.1563:0.6825:0.0:0.1612	.	.	.	.	X	475	.	ENSP00000359160:S475X	S	+	2	0	CCDC76	100386942	0.359000	0.24955	0.022000	0.16811	0.028000	0.11728	0.775000	0.26689	1.458000	0.47871	0.591000	0.81541	TCA		0.313	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		11	49	1	0	9.31168e-06	1	1.06029e-05	11	49				
GTPBP6	8225	broad.mit.edu	37	X	224523	224523	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:224523C>T	ENST00000326153.4	-	4	462	c.463G>A	c.(463-465)Gtc>Atc	p.V155I				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	384							GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGTGGCTGACGTCCCTCACG	0.667																																						ENST00000326153.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7						c.(463-465)Gtc>Atc		GTP binding protein 6 (putative)							48.0	61.0	57.0					X																	224523		2026	4175	6201	SO:0001583	missense	8225					intracellular	GTP binding	g.chrX:224523C>T	Y14391	CCDS75943.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000178605	ENSG00000178605		"""Pseudoautosomal regions / PAR1"""	30189	protein-coding gene	gene with protein product	"""pseudoautosomal GTP binding protein-like"""	300124				9466997	Standard	XM_006724447		Approved	PGPL, FLJ20977	uc004cpe.1	O43824	OTTHUMG00000022694	ENST00000326153.4:c.463G>A	X.37:g.224523C>T	ENSP00000316598:p.Val155Ile						p.V155I			O43824	GTPB6_HUMAN			4	462	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	384					Q53F77|Q5HYX8	Missense_Mutation	SNP	ENST00000326153.4	37	c.463G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.005|0.005	-2.119899|-2.119899	0.00346|0.00346	.|.	.|.	ENSG00000178605|ENSG00000178605	ENST00000400701|ENST00000326153	.|T	.|0.16897	.|2.31	2.05|2.05	-0.478|-0.478	0.12093|0.12093	.|GTP-binding domain, HSR1-related (1);	.|0.406919	.|0.24978	.|N	.|0.034089	T|T	0.04452|0.04452	0.0122|0.0122	.|.	.|.	.|.	.|.	.|.	.|.	.|P	.|0.39717	.|0.684	.|B	.|0.33454	.|0.164	T|T	0.39583|0.39583	-0.9607|-0.9607	3|8	.|0.02654	.|T	.|1	-22.1744|-22.1744	4.9975|4.9975	0.14247|0.14247	0.0:0.3009:0.0:0.6991|0.0:0.3009:0.0:0.6991	.|.	.|384	.|O43824	.|GTPB6_HUMAN	H|I	154|155	.|ENSP00000316598:V155I	.|ENSP00000316598:V155I	R|V	-|-	2|1	0|0	GTPBP6|GTPBP6	164523|164523	0.999000|0.999000	0.42202|0.42202	0.390000|0.390000	0.26220|0.26220	0.010000|0.010000	0.07245|0.07245	0.248000|0.248000	0.18198|0.18198	0.059000|0.059000	0.16252|0.16252	-1.394000|-1.394000	0.01149|0.01149	CGT|GTC		0.667	GTPBP6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_012227		7	10	0	0	0	1	0	7	10				
HIPK1	204851	broad.mit.edu	37	1	114512727	114512727	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114512727G>T	ENST00000369558.1	+	14	3153	c.2921G>T	c.(2920-2922)aGa>aTa	p.R974I	HIPK1_ENST00000369553.1_Missense_Mutation_p.R580I|HIPK1_ENST00000369555.2_Missense_Mutation_p.R929I|HIPK1_ENST00000369554.2_Missense_Mutation_p.R929I|HIPK1_ENST00000426820.2_Missense_Mutation_p.R974I|HIPK1_ENST00000406344.1_Missense_Mutation_p.R580I|HIPK1_ENST00000369559.4_Missense_Mutation_p.R974I|HIPK1_ENST00000369561.4_Missense_Mutation_p.R940I|HIPK1_ENST00000340480.4_Missense_Mutation_p.R600I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	974	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCTGGCAGAGTTGTGGCA	0.542																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2920-2922)aGa>aTa		homeodomain interacting protein kinase 1							125.0	121.0	123.0					1																	114512727		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114512727G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2921G>T	1.37:g.114512727G>T	ENSP00000358571:p.Arg974Ile					HIPK1_ENST00000426820.2_Missense_Mutation_p.R974I|HIPK1_ENST00000369554.2_Missense_Mutation_p.R929I|HIPK1_ENST00000340480.4_Missense_Mutation_p.R600I|HIPK1_ENST00000406344.1_Missense_Mutation_p.R580I|HIPK1_ENST00000369559.4_Missense_Mutation_p.R974I|HIPK1_ENST00000369555.2_Missense_Mutation_p.R929I|HIPK1_ENST00000369561.4_Missense_Mutation_p.R940I|HIPK1_ENST00000369553.1_Missense_Mutation_p.R580I	p.R974I			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	3153	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	974			Interaction with TP53.|Required for localization to nuclear speckles (By similarity).		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2921G>T	CCDS867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.574163|3.574163	0.65878|0.65878	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000361587|ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.|T;T;T;T;T;T;T;T;T;T	.|0.51574	.|0.73;0.79;0.77;0.7;0.7;0.77;0.72;3.79;2.88;2.88	6.04|6.04	4.15|4.15	0.48705|0.48705	.|.	.|0.153176	.|0.45126	.|D	.|0.000392	T|T	0.40347|0.40347	0.1113|0.1113	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999996|0.999996	.|P;B;D;D	.|0.64830	.|0.594;0.056;0.99;0.994	.|P;B;D;D	.|0.74348	.|0.458;0.016;0.962;0.983	T|T	0.36383|0.36383	-0.9750|-0.9750	5|10	.|0.38643	.|T	.|0.18	.|.	12.8955|12.8955	0.58098|0.58098	0.1322:0.0:0.8678:0.0|0.1322:0.0:0.8678:0.0	.|.	.|266;580;974;974	.|E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.|.;.;HIPK1_HUMAN;.	H|I	254|1045;974;974;929;929;974;940;600;580;580	.|ENSP00000407442:R1045I;ENSP00000358572:R974I;ENSP00000409673:R974I;ENSP00000358567:R929I;ENSP00000358568:R929I;ENSP00000358571:R974I;ENSP00000358574:R940I;ENSP00000340956:R600I;ENSP00000358566:R580I;ENSP00000384960:R580I	.|ENSP00000340956:R600I	Q|R	+|+	3|2	2|0	HIPK1|HIPK1	114314250|114314250	0.999000|0.999000	0.42202|0.42202	0.645000|0.645000	0.29479|0.29479	0.854000|0.854000	0.48673|0.48673	3.060000|3.060000	0.49955|0.49955	0.869000|0.869000	0.35703|0.35703	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.542	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		11	110	1	0	0.00010058	1	0.000111121	11	110				
NDUFA9	4704	broad.mit.edu	37	12	4764024	4764024	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4764024G>A	ENST00000266544.5	+	3	274	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	85					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.R85L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						ATACCCTATCGGTGTGATAAA	0.403																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			2	Substitution - Missense(2)	p.R85L(2)	NS(1)|lung(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(253-255)cGg>cAg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						113.0	102.0	106.0					12																	4764024		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4764024G>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.254G>A	12.37:g.4764024G>A	ENSP00000266544:p.Arg85Gln					NDUFA9_ENST00000542369.1_3'UTR	p.R85Q	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			3	274	+			85					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.254G>A	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932479	0.92458	.	.	ENSG00000139180	ENST00000266544;ENST00000535050	D;D	0.93763	-3.28;-1.81	5.59	5.59	0.84812	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98834	1.0752	10	0.87932	D	0	-10.5708	18.7211	0.91694	0.0:0.0:1.0:0.0	.	85;85	A8K4V2;Q16795	.;NDUA9_HUMAN	Q	85;107	ENSP00000266544:R85Q;ENSP00000440305:R107Q	ENSP00000266544:R85Q	R	+	2	0	NDUFA9	4634285	1.000000	0.71417	0.973000	0.42090	0.376000	0.30014	9.133000	0.94460	2.763000	0.94921	0.655000	0.94253	CGG		0.403	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		26	39	0	0	0	1	0	26	39				
TDRD10	126668	broad.mit.edu	37	1	154493951	154493951	+	Missense_Mutation	SNP	C	C	T	rs202037343		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154493951C>T	ENST00000368480.3	+	6	450	c.365C>T	c.(364-366)cCg>cTg	p.P122L	TDRD10_ENST00000368482.4_Missense_Mutation_p.P122L|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	122							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCGGGCCCCGCTGGTATGT	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16827	0.0		0.0	False		,,,				2504	0.0					ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(364-366)cCg>cTg		tudor domain containing 10							121.0	131.0	128.0					1																	154493951		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154493951C>T	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.365C>T	1.37:g.154493951C>T	ENSP00000357465:p.Pro122Leu					TDRD10_ENST00000368480.3_Missense_Mutation_p.P122L|TDRD10_ENST00000479937.1_3'UTR	p.P122L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1203	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		122					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.365C>T	CCDS41406.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.015	-1.569809	0.00895	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.23147	1.94;1.92	3.63	1.27	0.21489	.	1.889380	0.03935	N	0.286010	T	0.03053	0.0090	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.32613	-0.9900	10	0.15952	T	0.53	0.0492	4.9975	0.14247	0.0:0.2825:0.0:0.7175	.	122;122	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	L	122	ENSP00000357467:P122L;ENSP00000357465:P122L	ENSP00000357465:P122L	P	+	2	0	TDRD10	152760575	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.373000	0.20484	0.138000	0.18790	-0.471000	0.05019	CCG		0.527	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		87	105	0	0	0	1	0	87	105				
MARVELD2	153562	broad.mit.edu	37	5	68715841	68715841	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715841G>C	ENST00000325631.5	+	2	703	c.629G>C	c.(628-630)tGt>tCt	p.C210S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.C210S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	210	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GTCTTTGCTTGTGTCACAGCT	0.502																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(628-630)tGt>tCt		MARVEL domain containing 2							211.0	197.0	202.0					5																	68715841		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68715841G>C	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.629G>C	5.37:g.68715841G>C	ENSP00000323264:p.Cys210Ser					MARVELD2_ENST00000413223.2_Missense_Mutation_p.C210S	p.C210S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	703	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	210			MARVEL.		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.629G>C	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382135	0.82792	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.78707	1.75;1.75;1.75;-1.2;-1.2	5.12	5.12	0.69794	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88662	0.6497	M	0.80183	2.485	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.90257	0.4298	10	0.87932	D	0	-25.8877	17.3328	0.87271	0.0:0.0:1.0:0.0	.	210;210;210	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	S	210	ENSP00000323264:C210S;ENSP00000396244:C210S;ENSP00000423490:C210S;ENSP00000414776:C210S;ENSP00000398922:C210S	ENSP00000282886:C210S	C	+	2	0	MARVELD2	68751597	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	9.706000	0.98722	2.384000	0.81235	0.561000	0.74099	TGT		0.502	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		10	108	0	0	0	1	0	10	108				
PTCHD4	442213	broad.mit.edu	37	6	47976442	47976442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47976442C>T	ENST00000339488.4	-	2	868	c.835G>A	c.(835-837)Gca>Aca	p.A279T	PTCHD4_ENST00000543600.1_Missense_Mutation_p.A262T	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	279	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATCCCTGCTGCTGTGATGATG	0.552																																						ENST00000543600.1																			0											c.(784-786)Gca>Aca		patched domain containing 4							59.0	58.0	59.0					6																	47976442		2046	4190	6236	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976442C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.835G>A	6.37:g.47976442C>T	ENSP00000341914:p.Ala279Thr					PTCHD4_ENST00000339488.4_Missense_Mutation_p.A279T	p.A262T			Q6ZW05	CF138_HUMAN			2	823	-			279			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.784G>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.958796|4.958796	0.92726|0.92726	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.88201|.	-2.35;-2.35|.	6.1|6.1	6.1|6.1	0.99115|0.99115	Sterol-sensing domain (1);|.	0.054802|.	0.64402|.	D|.	0.000001|.	T|T	0.62011|0.62011	0.2393|0.2393	L|L	0.41961|0.41961	1.31|1.31	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.919;0.999|.	P;D|.	0.85130|.	0.634;0.997|.	T|T	0.54316|0.54316	-0.8312|-0.8312	10|5	0.39692|.	T|.	0.17|.	.|.	20.7146|20.7146	0.99709|0.99709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	279;262|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	T|N	279;262|278	ENSP00000341914:A279T;ENSP00000439864:A262T|.	ENSP00000341914:A279T|.	A|S	-|-	1|2	0|0	C6orf138|C6orf138	48084401|48084401	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.847000|0.847000	0.48162|0.48162	7.487000|7.487000	0.81328|0.81328	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.552	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		7	17	0	0	0	1	0	7	17				
MRPL37	51253	broad.mit.edu	37	1	54681864	54681864	+	Silent	SNP	G	G	A	rs201756948		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54681864G>A	ENST00000360840.5	+	6	1118	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	MRPL37_ENST00000336230.6_Silent_p.T216T|MRPL37_ENST00000605337.1_Silent_p.T347T	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	347					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GCGTGGGCACGGATGGACGTG	0.517																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(1039-1041)acG>acA		mitochondrial ribosomal protein L37							181.0	157.0	165.0					1																	54681864		2203	4300	6503	SO:0001819	synonymous_variant	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54681864G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1041G>A	1.37:g.54681864G>A						MRPL37_ENST00000360840.5_Silent_p.T347T|MRPL37_ENST00000336230.6_Silent_p.T216T	p.T347T			Q9BZE1	RM37_HUMAN			6	1089	+			347					Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	37	c.1041G>A	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	0.269	-0.994053	0.02145	.	.	ENSG00000116221	ENST00000398219	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47623	-0.9103	4	.	.	.	-1.1871	3.9809	0.09495	0.1445:0.3692:0.321:0.1653	.	.	.	.	Q	132	.	.	R	+	2	0	MRPL37	54454452	0.000000	0.05858	0.139000	0.22197	0.166000	0.22503	-5.046000	0.00156	-2.979000	0.00283	-1.632000	0.00781	CGG		0.517	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		35	78	0	0	0	1	0	35	78				
LIPN	643418	broad.mit.edu	37	10	90526114	90526114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90526114C>T	ENST00000404459.1	+	4	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	172					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTTCATTGGACATTCACTTGG	0.363																																						ENST00000404459.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9						c.(514-516)Cat>Tat		lipase, family member N							140.0	138.0	139.0					10																	90526114		1848	4090	5938	SO:0001583	missense	643418				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90526114C>T		CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.514C>T	10.37:g.90526114C>T	ENSP00000383923:p.His172Tyr						p.H172Y	NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)	4	514	+		Colorectal(252;0.0161)	172					A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	c.514C>T	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192200	0.58017	.	.	ENSG00000204020	ENST00000404459	T	0.76968	-1.06	5.42	5.42	0.78866	Alpha/beta hydrolase fold-1 (1);	0.089808	0.48767	N	0.000171	T	0.74558	0.3732	L	0.48218	1.51	0.50313	D	0.999864	P	0.43431	0.807	B	0.42163	0.378	T	0.75551	-0.3278	10	0.45353	T	0.12	-22.0297	16.2447	0.82436	0.0:1.0:0.0:0.0	.	172	Q5VXI9	LIPN_HUMAN	Y	172	ENSP00000383923:H172Y	ENSP00000383923:H172Y	H	+	1	0	LIPN	90516094	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.022000	0.49659	2.829000	0.97493	0.650000	0.86243	CAT		0.363	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		20	51	0	0	0	1	0	20	51				
OBSCN	84033	broad.mit.edu	37	1	228509366	228509366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509366C>T	ENST00000422127.1	+	55	14868	c.14824C>T	c.(14824-14826)Cgg>Tgg	p.R4942W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4942W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2061W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5899W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2576W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4942	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGATGGGCGGCACCATCA	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17695-17697)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							53.0	57.0	55.0					1																	228509366		2174	4271	6445	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509366C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14824C>T	1.37:g.228509366C>T	ENSP00000409493:p.Arg4942Trp					OBSCN_ENST00000366707.4_Missense_Mutation_p.R2576W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2061W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4942W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4942W	p.R5899W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			66	17769	+		Prostate(94;0.0405)	4942			PH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17695C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839818	0.71488	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.34	3.42	0.39159	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.085942	0.47093	D	0.000252	T	0.64238	0.2580	M	0.84082	2.675	0.36610	D	0.875145	D;D	0.76494	0.999;0.999	D;P	0.63597	0.916;0.862	T	0.74999	-0.3472	10	0.72032	D	0.01	.	14.3268	0.66526	0.2708:0.7292:0.0:0.0	.	4942;4942	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4942;4942;2576;2061	ENSP00000284548:R4942W;ENSP00000409493:R4942W;ENSP00000355668:R2576W;ENSP00000355670:R2061W	ENSP00000284548:R4942W	R	+	1	2	OBSCN	226575989	1.000000	0.71417	0.990000	0.47175	0.724000	0.41520	4.753000	0.62183	0.596000	0.29794	0.655000	0.94253	CGG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		28	35	0	0	0	1	0	28	35				
KIF27	55582	broad.mit.edu	37	9	86518586	86518586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86518586C>T	ENST00000297814.2	-	4	990	c.847G>A	c.(847-849)Gac>Aac	p.D283N	KIF27_ENST00000413982.1_Missense_Mutation_p.D283N|KIF27_ENST00000334204.2_Missense_Mutation_p.D283N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	283	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGCGTGGGTCCCCAAGAGCG	0.438																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(847-849)Gac>Aac		kinesin family member 27							78.0	83.0	81.0					9																	86518586		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518586C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.847G>A	9.37:g.86518586C>T	ENSP00000297814:p.Asp283Asn					KIF27_ENST00000413982.1_Missense_Mutation_p.D283N|KIF27_ENST00000334204.2_Missense_Mutation_p.D283N	p.D283N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	990	-			283					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.847G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769162	0.90020	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.75367	-0.93;-0.93;-0.93	5.66	5.66	0.87406	Kinesin, motor domain (3);	0.000000	0.64402	D	0.000012	D	0.86033	0.5836	M	0.66297	2.02	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86667	0.1908	10	0.87932	D	0	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	283;283;283	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	283	ENSP00000297814:D283N;ENSP00000401688:D283N;ENSP00000333928:D283N	ENSP00000297814:D283N	D	-	1	0	KIF27	85708406	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	GAC		0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		25	34	0	0	0	1	0	25	34				
KIAA0930	23313	broad.mit.edu	37	22	45598963	45598963	+	Missense_Mutation	SNP	C	C	T	rs373645063		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45598963C>T	ENST00000336156.5	-	7	825	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	KIAA0930_ENST00000391627.2_Missense_Mutation_p.A220T|KIAA0930_ENST00000474515.1_5'Flank|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000251993.7_Missense_Mutation_p.A259T|KIAA0930_ENST00000443310.3_Missense_Mutation_p.A236T	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	254										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GCCATCTCGGCGTGGCCCTTG	0.622																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(760-762)Gcc>Acc		KIAA0930		C	THR/ALA,THR/ALA	0,4406		0,0,2203	121.0	120.0	120.0		760,775	4.9	0.8	22		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIAA0930	NM_001009880.1,NM_015264.1	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	254/405,259/410	45598963	1,13005	2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45598963C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.760G>A	22.37:g.45598963C>T	ENSP00000336720:p.Ala254Thr					KIAA0930_ENST00000391627.2_Missense_Mutation_p.A220T|KIAA0930_ENST00000251993.7_Missense_Mutation_p.A259T|KIAA0930_ENST00000443310.3_Missense_Mutation_p.A236T	p.A254T	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			7	825	-			254					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.760G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345434	0.95807	0.0	1.16E-4	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.88	4.88	0.63580	.	0.050442	0.85682	D	0.000000	T	0.79076	0.4385	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.993;0.996	T	0.82053	-0.0648	9	0.87932	D	0	-27.2285	18.1137	0.89543	0.0:1.0:0.0:0.0	.	236;254;259;325	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	T	254;139;259;220;236	.	ENSP00000251993:A259T	A	-	1	0	KIAA0930	43977627	1.000000	0.71417	0.806000	0.32338	0.925000	0.55904	7.250000	0.78287	2.280000	0.76307	0.555000	0.69702	GCC		0.622	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		54	82	0	0	0	1	0	54	82				
TINAG	27283	broad.mit.edu	37	6	54173380	54173380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54173380C>A	ENST00000259782.4	+	1	128	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	TINAG_ENST00000370869.3_Intron|TINAG_ENST00000370864.3_5'UTR|TINAG_ENST00000486436.1_Intron	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	11					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTAATCTTCTCTTATCTTACT	0.413																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(31-33)tCt>tAt		tubulointerstitial nephritis antigen							54.0	53.0	53.0					6																	54173380		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173380C>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.32C>A	6.37:g.54173380C>A	ENSP00000259782:p.Ser11Tyr					TINAG_ENST00000370864.3_5'UTR|TINAG_ENST00000486436.1_Intron|TINAG_ENST00000370869.3_Intron	p.S11Y	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	128	+	Lung NSC(77;0.0518)		11					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.32C>A	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.645906	0.00792	.	.	ENSG00000137251	ENST00000339741;ENST00000259782	T	0.66280	-0.2	5.49	0.0641	0.14351	.	0.706540	0.13898	N	0.355140	T	0.14098	0.0341	L	0.33485	1.01	0.09310	N	0.999996	B;B	0.19706	0.001;0.038	B;B	0.13407	0.002;0.009	T	0.26018	-1.0115	10	0.02654	T	1	.	0.8747	0.01221	0.1619:0.3824:0.158:0.2977	.	11;11	Q9UJW2;Q7Z477	TINAG_HUMAN;.	Y	11	ENSP00000259782:S11Y	ENSP00000259782:S11Y	S	+	2	0	TINAG	54281339	0.000000	0.05858	0.000000	0.03702	0.650000	0.38633	-0.583000	0.05807	-0.211000	0.10124	0.655000	0.94253	TCT		0.413	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		5	68	1	0	0.014758	1	0.0152625	5	68				
MRPL21	219927	broad.mit.edu	37	11	68660895	68660895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68660895G>A	ENST00000362034.2	-	5	434	c.425C>T	c.(424-426)aCg>aTg	p.T142M	MRPL21_ENST00000450904.2_Missense_Mutation_p.T57M|MRPL21_ENST00000567045.1_Missense_Mutation_p.T57M	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	142					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T142M(1)		large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAAGCAGCGTGAAGTTGTC	0.507																																						ENST00000567045.1																			1	Substitution - Missense(1)	p.T142M(1)	large_intestine(1)	large_intestine(1)|lung(6)|prostate(1)	8						c.(169-171)aCg>aTg		mitochondrial ribosomal protein L21							78.0	72.0	74.0					11																	68660895		2200	4294	6494	SO:0001583	missense	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68660895G>A	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.425C>T	11.37:g.68660895G>A	ENSP00000354580:p.Thr142Met					MRPL21_ENST00000450904.2_Missense_Mutation_p.T57M|MRPL21_ENST00000362034.2_Missense_Mutation_p.T142M	p.T57M			Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		5	405	-			142					A6NKU0|C9JPR2	Missense_Mutation	SNP	ENST00000362034.2	37	c.170C>T	CCDS8186.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084575	0.76642	.	.	ENSG00000197345	ENST00000450904;ENST00000362034;ENST00000447977	.	.	.	4.25	4.25	0.50352	.	0.046978	0.85682	D	0.000000	D	0.83031	0.5166	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86589	0.1859	9	0.87932	D	0	-22.5276	15.6122	0.76733	0.0:0.0:1.0:0.0	.	142;142	B4DXI4;Q7Z2W9	.;RM21_HUMAN	M	57;142;142	.	ENSP00000354580:T142M	T	-	2	0	MRPL21	68417471	1.000000	0.71417	0.950000	0.38849	0.811000	0.45836	8.335000	0.90031	2.209000	0.71365	0.561000	0.74099	ACG		0.507	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		4	20	0	0	0	1	0	4	20				
FGFR3	2261	broad.mit.edu	37	4	1808273	1808273	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1808273C>T	ENST00000260795.2	+	15	2133	c.2031C>T	c.(2029-2031)gtC>gtT	p.V677V	FGFR3_ENST00000481110.2_Splice_Site_p.L655L|FGFR3_ENST00000352904.1_Splice_Site_p.V565V|FGFR3_ENST00000412135.2_Splice_Site_p.V565V|FGFR3_ENST00000340107.4_Splice_Site_p.V679V|FGFR3_ENST00000440486.2_Splice_Site_p.V677V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	677	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TCCCCTGCAGCTGGTCCTTTG	0.672		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.e16-1		fibroblast growth factor receptor 3	Palifermin(DB00039)						37.0	36.0	36.0					4																	1808273		2203	4300	6503	SO:0001630	splice_region_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808273C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2031-1C>T	4.37:g.1808273C>T						FGFR3_ENST00000352904.1_Splice_Site_p.V565_splice|FGFR3_ENST00000440486.2_Splice_Site_p.V677_splice|FGFR3_ENST00000260795.2_Splice_Site_p.V677_splice|FGFR3_ENST00000412135.2_Splice_Site_p.V565_splice|FGFR3_ENST00000481110.2_Splice_Site_p.L655_splice	p.V679_splice	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		16	2293	+		Breast(71;0.212)|all_epithelial(65;0.241)	677			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Splice_Site	SNP	ENST00000260795.2	37	c.2036_splice	CCDS3353.1																																																																																				0.672	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142	Silent	18	23	0	0	0	1	0	18	23				
CLEC4A	50856	broad.mit.edu	37	12	8278156	8278156	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8278156G>A	ENST00000229332.5	+	2	329		c.e2-1		CLEC4A_ENST00000360500.3_Intron|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000352620.3_Splice_Site	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TTCTTCTTCAGCTTCCAAGGA	0.418																																						ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.e2-1		C-type lectin domain family 4, member A							126.0	109.0	115.0					12																	8278156		2203	4300	6503	SO:0001630	splice_region_variant	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8278156G>A	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.83-1G>A	12.37:g.8278156G>A						CLEC4A_ENST00000352620.3_Splice_Site|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Intron		NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	2	329	+								Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Splice_Site	SNP	ENST00000229332.5	37		CCDS8590.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201862	0.38905	.	.	ENSG00000111729	ENST00000229332;ENST00000352620;ENST00000546339	.	.	.	3.89	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.21386	N	0.999709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4876	0.27443	0.1176:0.0:0.8824:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLEC4A	8169423	0.431000	0.25546	0.028000	0.17463	0.606000	0.37113	2.047000	0.41269	1.234000	0.43709	0.655000	0.94253	.		0.418	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450	Intron	6	45	0	0	0	1	0	6	45				
IDS	3423	broad.mit.edu	37	X	148585691	148585691	+	Missense_Mutation	SNP	G	G	A	rs368513342		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148585691G>A	ENST00000340855.6	-	2	445	c.236C>T	c.(235-237)gCg>gTg	p.A79V	IDS_ENST00000490775.1_5'Flank|IDS_ENST00000370441.4_Missense_Mutation_p.A79V|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.A79V|IDS_ENST00000427113.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000370443.4_Missense_Mutation_p.A79V	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	79			A -> E (in MPS2; mild form). {ECO:0000269|PubMed:9921913}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACATACCTGCGCAAAGGCATT	0.572																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	GRCh37	CM981012|HD070029|HD971767	IDS	D|M		c.(235-237)gCg>gTg		iduronate 2-sulfatase							58.0	45.0	49.0					X																	148585691		2203	4298	6501	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148585691G>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.236C>T	X.37:g.148585691G>A	ENSP00000339801:p.Ala79Val					IDS_ENST00000541269.1_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.A79V|IDS_ENST00000370441.4_Missense_Mutation_p.A79V|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370443.4_Missense_Mutation_p.A79V	p.A79V	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			2	445	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		79		A -> E (in MPS2; mild form).			D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.236C>T	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007128	0.54361	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89	4.87	3.99	0.46301	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.112463	0.64402	D	0.000012	D	0.95633	0.8580	L	0.31476	0.935	0.58432	D	0.999999	B;P;P	0.36183	0.195;0.486;0.542	B;B;B	0.40782	0.131;0.23;0.34	D	0.92989	0.6413	10	0.20046	T	0.44	.	12.7285	0.57185	0.0:0.0:0.8345:0.1655	.	79;79;79	O60597;P22304-2;P22304	.;.;IDS_HUMAN	V	79	ENSP00000339801:A79V;ENSP00000359470:A79V;ENSP00000359472:A79V;ENSP00000390241:A79V;ENSP00000429745:A79V	ENSP00000339801:A79V	A	-	2	0	IDS	148393595	1.000000	0.71417	0.960000	0.40013	0.720000	0.41350	7.291000	0.78721	0.820000	0.34516	0.436000	0.28706	GCG		0.572	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			10	10	0	0	0	1	0	10	10				
DNAH17	8632	broad.mit.edu	37	17	76450573	76450573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76450573G>A	ENST00000585328.1	-	64	10494	c.10370C>T	c.(10369-10371)gCc>gTc	p.A3457V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A3448V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3448	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGCGGATGGCTTTCAGTTC	0.582																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10342-10344)gCc>gTc		dynein, axonemal, heavy chain 17							119.0	88.0	99.0					17																	76450573		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76450573G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10370C>T	17.37:g.76450573G>A	ENSP00000465516:p.Ala3457Val					DNAH17_ENST00000585328.1_Missense_Mutation_p.A3457V|DNAH17_ENST00000586052.1_5'UTR	p.A3448V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		64	10467	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10343C>T		.	.	.	.	.	.	.	.	.	.	G	6.123	0.390932	0.11581	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.19105	2.17	5.11	4.14	0.48551	.	0.196730	0.35677	N	0.003053	T	0.02193	0.0068	N	0.00009	-3.08	0.29098	N	0.881668	B	0.12013	0.005	B	0.09377	0.004	T	0.31779	-0.9931	10	0.02654	T	1	.	9.1292	0.36835	0.2298:0.0:0.7702:0.0	.	3457	E7EUM8	.	V	3457;3448	ENSP00000374490:A3448V	ENSP00000300671:A3457V	A	-	2	0	DNAH17	73962168	1.000000	0.71417	0.911000	0.35937	0.973000	0.67179	3.514000	0.53422	1.129000	0.42072	0.650000	0.86243	GCC		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	10	0	0	0	1	0	5	10				
MKI67	4288	broad.mit.edu	37	10	129901433	129901433	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901433G>A	ENST00000368654.3	-	13	9046	c.8671C>T	c.(8671-8673)Cgg>Tgg	p.R2891W	MKI67_ENST00000368653.3_Missense_Mutation_p.R2531W	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2891	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAGCTTCCGCTTTGCAGGT	0.547																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8671-8673)Cgg>Tgg		marker of proliferation Ki-67							179.0	167.0	171.0					10																	129901433		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901433G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8671C>T	10.37:g.129901433G>A	ENSP00000357643:p.Arg2891Trp					MKI67_ENST00000368653.3_Missense_Mutation_p.R2531W	p.R2891W	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9046	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2891			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8671C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442111	0.25987	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02498	4.27;4.27	4.35	2.29	0.28610	.	.	.	.	.	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	P;D;D	0.60160	0.956;0.971;0.987	B;P;P	0.52909	0.401;0.471;0.713	T	0.40924	-0.9537	9	0.72032	D	0.01	.	8.955	0.35812	0.0:0.0:0.5999:0.4001	.	2890;2531;2891	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	W	2891;2531;2890	ENSP00000357643:R2891W;ENSP00000357642:R2531W	ENSP00000357642:R2531W	R	-	1	2	MKI67	129791423	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.206000	0.09398	1.142000	0.42291	0.655000	0.94253	CGG		0.547	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		67	86	0	0	0	1	0	67	86				
KRTAP5-5	439915	broad.mit.edu	37	11	1651250	1651250	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1651250C>G	ENST00000399676.2	+	1	218	c.180C>G	c.(178-180)tcC>tcG	p.S60S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	60						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gatgtggctccggctgCTGTG	0.682																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(178-180)tcC>tcG		keratin associated protein 5-5							55.0	68.0	63.0					11																	1651250		2195	4289	6484	SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651250C>G	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.180C>G	11.37:g.1651250C>G							p.S60S	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	218	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	60					A8MWN2	Silent	SNP	ENST00000399676.2	37	c.180C>G	CCDS41592.1																																																																																				0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			13	42	0	0	0	1	0	13	42				
PBRM1	55193	broad.mit.edu	37	3	52643916	52643916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52643916C>A	ENST00000296302.7	-	16	1981	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	PBRM1_ENST00000337303.4_Missense_Mutation_p.Q660H|PBRM1_ENST00000356770.4_Missense_Mutation_p.Q628H|PBRM1_ENST00000394830.3_Missense_Mutation_p.Q660H|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q675H|PBRM1_ENST00000409114.3_Missense_Mutation_p.Q675H|PBRM1_ENST00000409057.1_Missense_Mutation_p.Q660H|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q660H			Q86U86	PB1_HUMAN	polybromo 1	660					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTAGTTTCTGCTGCATTG	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1882-1884)caG>caT		polybromo 1							106.0	125.0	119.0					3																	52643916		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643916C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1980G>T	3.37:g.52643916C>A	ENSP00000296302:p.Gln660His					PBRM1_ENST00000394830.3_Missense_Mutation_p.Q660H|PBRM1_ENST00000296302.7_Missense_Mutation_p.Q660H|PBRM1_ENST00000409114.3_Missense_Mutation_p.Q675H|PBRM1_ENST00000409057.1_Missense_Mutation_p.Q660H|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q675H|PBRM1_ENST00000337303.4_Missense_Mutation_p.Q660H|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q660H	p.Q628H			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	1886	-			660					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1884G>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.033393	0.35893	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	6.17	3.41	0.39046	Bromodomain (3);	0.049703	0.85682	D	0.000000	T	0.09905	0.0243	N	0.12746	0.255	0.49299	D	0.99977	B;B;B;B;B;B;B;B;B;B;B	0.27679	0.027;0.004;0.006;0.009;0.006;0.013;0.004;0.015;0.185;0.01;0.004	B;B;B;B;B;B;B;B;B;B;B	0.14578	0.011;0.003;0.007;0.003;0.004;0.007;0.003;0.011;0.011;0.005;0.003	T	0.13019	-1.0525	10	0.42905	T	0.14	-18.843	7.3129	0.26485	0.0:0.6866:0.1253:0.1881	.	660;35;660;660;660;660;675;675;660;628;660	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	H	628;660;660;660;660;660;675;675;660;619	ENSP00000349213:Q628H;ENSP00000378307:Q660H;ENSP00000296302:Q660H;ENSP00000338302:Q660H;ENSP00000386593:Q660H;ENSP00000386529:Q660H;ENSP00000386643:Q675H;ENSP00000386601:Q675H;ENSP00000387775:Q660H;ENSP00000397662:Q619H	ENSP00000296302:Q660H	Q	-	3	2	PBRM1	52618956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.658000	0.46733	1.620000	0.50308	0.655000	0.94253	CAG		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		49	117	1	0	2.72333e-11	1	3.39006e-11	49	117				
SIX4	51804	broad.mit.edu	37	14	61190785	61190785	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61190785G>T	ENST00000216513.4	-	1	67	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	3					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGGGGAGGAAGAGGACATTTT	0.562																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(7-9)tCt>tAt		SIX homeobox 4							69.0	76.0	74.0					14																	61190785		2172	4278	6450	SO:0001583	missense	51804					nucleus		g.chr14:61190785G>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.8C>A	14.37:g.61190785G>T	ENSP00000216513:p.Ser3Tyr						p.S3Y	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	67	-			3					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.8C>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	g	14.42	2.528710	0.44969	.	.	ENSG00000100625	ENST00000216513	D	0.91631	-2.88	3.52	2.61	0.31194	.	.	.	.	.	D	0.82678	0.5089	N	0.14661	0.345	0.80722	D	1	B	0.18310	0.027	B	0.09377	0.004	T	0.77008	-0.2747	9	0.87932	D	0	.	7.2631	0.26214	0.092:0.0:0.7383:0.1698	.	3	Q9UIU6	SIX4_HUMAN	Y	3	ENSP00000216513:S3Y	ENSP00000216513:S3Y	S	-	2	0	SIX4	60260538	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.770000	0.85390	0.805000	0.34159	0.290000	0.19541	TCT		0.562	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			6	80	1	0	0.0215528	1	0.0221649	6	80				
SMC1B	27127	broad.mit.edu	37	22	45779484	45779484	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45779484G>T	ENST00000357450.4	-	12	1920	c.1921C>A	c.(1921-1923)Ctt>Att	p.L641I	SMC1B_ENST00000404354.3_Missense_Mutation_p.L641I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	641	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTTCCATCAAGAGCTACTGTC	0.318																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1921-1923)Ctt>Att		structural maintenance of chromosomes 1B							76.0	66.0	69.0					22																	45779484		1798	4069	5867	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45779484G>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1921C>A	22.37:g.45779484G>T	ENSP00000350036:p.Leu641Ile					SMC1B_ENST00000404354.3_Missense_Mutation_p.L641I	p.L641I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	12	1920	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	641			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1921C>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682406	0.88542	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.89050	-2.46;-2.46	6.08	5.07	0.68467	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.50627	D	0.000109	D	0.95023	0.8389	M	0.90870	3.155	0.80722	D	1	D;D;D	0.57257	0.966;0.979;0.979	P;D;P	0.62955	0.869;0.909;0.855	D	0.95688	0.8738	10	0.59425	D	0.04	.	15.1507	0.72696	0.0671:0.0:0.9329:0.0	.	641;641;641	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	I	641	ENSP00000350036:L641I;ENSP00000385902:L641I	ENSP00000350036:L641I	L	-	1	0	SMC1B	44158148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.396000	0.73234	1.590000	0.49995	0.655000	0.94253	CTT		0.318	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		4	57	1	0	0.000602214	1	0.000649039	4	57				
JAKMIP1	152789	broad.mit.edu	37	4	6066610	6066610	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066610G>A	ENST00000282924.5	-	9	1913	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	JAKMIP1_ENST00000410077.2_Silent_p.D311D|JAKMIP1_ENST00000409021.3_Silent_p.D476D|JAKMIP1_ENST00000409371.3_Silent_p.D291D|JAKMIP1_ENST00000409831.1_Silent_p.D476D|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	476	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTTACATCGTCCAAGTCTT	0.547																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1426-1428)gaC>gaT		janus kinase and microtubule interacting protein 1							165.0	138.0	147.0					4																	6066610		2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6066610G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1428C>T	4.37:g.6066610G>A						JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Silent_p.D291D|JAKMIP1_ENST00000409831.1_Silent_p.D476D|JAKMIP1_ENST00000410077.2_Silent_p.D311D|JAKMIP1_ENST00000282924.5_Silent_p.D476D	p.D476D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			9	1877	-			476			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1428C>T	CCDS3385.1																																																																																				0.547	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		19	19	0	0	0	1	0	19	19				
SLC27A1	376497	broad.mit.edu	37	19	17615406	17615406	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615406C>T	ENST00000252595.7	+	12	2023	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Silent_p.G463G|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Silent_p.G642G	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	642					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGCTCGGGCGCCTTCGCCC	0.627																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1924-1926)ggC>ggT		solute carrier family 27 (fatty acid transporter), member 1							60.0	52.0	54.0					19																	17615406		2203	4300	6503	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17615406C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1926C>T	19.37:g.17615406C>T						SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.G463G|SLC27A1_ENST00000442725.1_Silent_p.G642G|CTD-3131K8.2_ENST00000596643.1_lincRNA	p.G642G	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			12	2023	+			642					A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.1926C>T	CCDS32953.1																																																																																				0.627	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		10	20	0	0	0	1	0	10	20				
ADCK5	203054	broad.mit.edu	37	8	145617300	145617300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145617300C>T	ENST00000308860.6	+	11	1149	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	369	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTTCTGGTGCGGAAAGGCCC	0.662																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(1105-1107)Cgg>Tgg		aarF domain containing kinase 5							30.0	33.0	32.0					8																	145617300		2197	4298	6495	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617300C>T	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1105C>T	8.37:g.145617300C>T	ENSP00000310547:p.Arg369Trp						p.R369W	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		11	1149	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		369			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.1105C>T	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668801	0.67814	.	.	ENSG00000173137	ENST00000308860	T	0.38722	1.12	5.4	4.5	0.54988	Protein kinase-like domain (1);	0.149097	0.43260	D	0.000581	T	0.71796	0.3382	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78471	-0.2191	10	0.72032	D	0.01	-45.9193	11.2825	0.49203	0.1826:0.8173:0.0:0.0	.	369	Q3MIX3	ADCK5_HUMAN	W	369	ENSP00000310547:R369W	ENSP00000310547:R369W	R	+	1	2	ADCK5	145588108	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.722000	0.38042	1.238000	0.43771	0.555000	0.69702	CGG		0.662	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		7	12	0	0	0	1	0	7	12				
SSRP1	6749	broad.mit.edu	37	11	57094960	57094960	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57094960C>A	ENST00000278412.2	-	15	2077	c.1811G>T	c.(1810-1812)aGg>aTg	p.R604M	snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	604					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						ATAGTCCCTCCTGGCATCCTC	0.502																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1810-1812)aGg>aTg		structure specific recognition protein 1							173.0	184.0	180.0					11																	57094960		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57094960C>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1811G>T	11.37:g.57094960C>A	ENSP00000278412:p.Arg604Met					RP11-872D17.4_ENST00000534162.1_RNA	p.R604M	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			15	2077	-			604					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1811G>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661737	0.67700	.	.	ENSG00000149136	ENST00000278412	D	0.98313	-4.86	5.83	3.75	0.43078	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.054184	0.64402	D	0.000001	D	0.95971	0.8688	L	0.39020	1.185	0.49389	D	0.999786	P	0.38677	0.642	P	0.45377	0.478	D	0.94373	0.7597	10	0.87932	D	0	.	4.5126	0.11919	0.0:0.5764:0.0:0.4236	.	604	Q08945	SSRP1_HUMAN	M	604	ENSP00000278412:R604M	ENSP00000278412:R604M	R	-	2	0	SSRP1	56851536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.907000	0.48743	1.469000	0.48083	0.563000	0.77884	AGG		0.502	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		18	170	1	0	2.4624e-09	1	2.98951e-09	18	170				
PDGFRL	5157	broad.mit.edu	37	8	17500218	17500218	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17500218G>T	ENST00000541323.1	+	7	1481	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	PDGFRL_ENST00000398074.3_Missense_Mutation_p.D346Y|PDGFRL_ENST00000251630.6_Missense_Mutation_p.D346Y|PDGFRL_ENST00000523248.1_Intron	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	346	Ig-like C2-type 2.				G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TACAGTGGAAGACTTTGAGAC	0.468																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(1036-1038)Gac>Tac		platelet-derived growth factor receptor-like							121.0	103.0	109.0					8																	17500218		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17500218G>T	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.1036G>T	8.37:g.17500218G>T	ENSP00000444211:p.Asp346Tyr					PDGFRL_ENST00000398074.3_Missense_Mutation_p.D346Y|PDGFRL_ENST00000523248.1_Intron|PDGFRL_ENST00000251630.6_Missense_Mutation_p.D346Y	p.D346Y	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	7	1481	+			346			Ig-like C2-type 2.		A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.1036G>T	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373546	0.82573	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.68624	-0.34;-0.34;-0.34	5.16	5.16	0.70880	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81720	-0.0804	10	0.72032	D	0.01	-0.5563	19.041	0.92999	0.0:0.0:1.0:0.0	.	346	Q15198	PGFRL_HUMAN	Y	346	ENSP00000251630:D346Y;ENSP00000444211:D346Y;ENSP00000381149:D346Y	ENSP00000251630:D346Y	D	+	1	0	PDGFRL	17544498	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	9.213000	0.95133	2.579000	0.87056	0.650000	0.86243	GAC		0.468	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		27	47	1	0	2.65835e-16	1	3.4289e-16	27	47				
ARSA	410	broad.mit.edu	37	22	51065374	51065374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51065374G>A	ENST00000547307.1	-	3	971	c.566C>T	c.(565-567)gCg>gTg	p.A189V	ARSA_ENST00000547805.1_Missense_Mutation_p.A189V|ARSA_ENST00000395619.3_Missense_Mutation_p.A191V|ARSA_ENST00000453344.2_Missense_Mutation_p.A105V|ARSA_ENST00000216124.5_Missense_Mutation_p.A191V|ARSA_ENST00000395621.3_Missense_Mutation_p.A191V|ARSA_ENST00000356098.5_Missense_Mutation_p.A191V			P15289	ARSA_HUMAN	arylsulfatase A	189					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	GGGGGGCTGCGCCTCCACGGA	0.677																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(565-567)gCg>gTg		arylsulfatase A	Micafungin(DB01141)						41.0	51.0	47.0					22																	51065374		2200	4295	6495	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065374G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.566C>T	22.37:g.51065374G>A	ENSP00000448440:p.Ala189Val					ARSA_ENST00000547805.1_Missense_Mutation_p.A189V|ARSA_ENST00000395621.3_Missense_Mutation_p.A191V|ARSA_ENST00000395619.3_Missense_Mutation_p.A191V|ARSA_ENST00000356098.5_Missense_Mutation_p.A191V|ARSA_ENST00000216124.5_Missense_Mutation_p.A191V|ARSA_ENST00000453344.2_Missense_Mutation_p.A105V	p.A189V			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	971	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	189					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.566C>T		.	.	.	.	.	.	.	.	.	.	G	14.90	2.673936	0.47781	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.51	0.735	0.18300	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.313613	0.39274	N	0.001401	D	0.83741	0.5320	N	0.11131	0.1	0.33727	D	0.617766	B	0.24483	0.104	B	0.08055	0.003	T	0.77838	-0.2439	10	0.56958	D	0.05	.	4.6278	0.12486	0.1807:0.0:0.3651:0.4543	.	189	P15289	ARSA_HUMAN	V	191;191;189;189;191;105;191	ENSP00000348406:A191V;ENSP00000216124:A191V;ENSP00000448440:A189V;ENSP00000448932:A189V;ENSP00000378983:A191V;ENSP00000412542:A105V;ENSP00000378981:A191V	ENSP00000216124:A191V	A	-	2	0	ARSA	49412240	0.181000	0.23161	0.680000	0.29994	0.841000	0.47740	1.082000	0.30803	0.291000	0.22468	-0.199000	0.12753	GCG		0.677	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		38	52	0	0	0	1	0	38	52				
PLCH2	9651	broad.mit.edu	37	1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2411398G>A	ENST00000419816.2	+	3	771	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PLCH2_ENST00000449969.1_Missense_Mutation_p.R139H|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(415-417)cGc>cAc		phospholipase C, eta 2							24.0	28.0	27.0					1																	2411398		2099	4155	6254	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411398G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.497G>A	1.37:g.2411398G>A	ENSP00000389803:p.Arg166His					PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000419816.2_Missense_Mutation_p.R166H|PLCH2_ENST00000288766.5_Intron	p.R139H			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	577	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	166			Necessary for plasma membrane localization (By similarity).|PH.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.416G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.032012	0.75504	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.25414	1.89;1.87;1.8	4.92	4.92	0.64577	.	.	.	.	.	T	0.49677	0.1571	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.52351	-0.8587	9	0.72032	D	0.01	.	17.4485	0.87585	0.0:0.0:1.0:0.0	.	166	O75038	PLCH2_HUMAN	H	139;166;166;13	ENSP00000397289:R139H;ENSP00000367747:R166H;ENSP00000367749:R166H	ENSP00000341313:R13H	R	+	2	0	PLCH2	2401258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.515000	0.98015	2.459000	0.83118	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		17	23	0	0	0	1	0	17	23				
BARD1	580	broad.mit.edu	37	2	215646227	215646227	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215646227T>G	ENST00000260947.4	-	4	505	c.371A>C	c.(370-372)aAa>aCa	p.K124T	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	124					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTATCTTCTTTCAAATCTGA	0.333									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(370-372)aAa>aCa		BRCA1 associated RING domain 1							43.0	48.0	46.0					2																	215646227		2202	4277	6479	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215646227T>G		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.371A>C	2.37:g.215646227T>G	ENSP00000260947:p.Lys124Thr					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	p.K124T	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	505	-		Renal(323;0.0243)	124					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.371A>C	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250295	0.22880	.	.	ENSG00000138376	ENST00000260947	T	0.73469	-0.75	5.94	5.94	0.96194	.	0.421309	0.26481	N	0.024128	T	0.58722	0.2142	L	0.36672	1.1	0.80722	D	1	B	0.23442	0.085	B	0.14023	0.01	T	0.56329	-0.7997	10	0.25751	T	0.34	-25.8075	4.1811	0.10376	0.1255:0.069:0.1313:0.6742	.	124	Q99728	BARD1_HUMAN	T	124	ENSP00000260947:K124T	ENSP00000260947:K124T	K	-	2	0	BARD1	215354472	0.987000	0.35691	0.991000	0.47740	0.355000	0.29361	1.977000	0.40589	2.275000	0.75901	0.528000	0.53228	AAA		0.333	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		7	66	0	0	0	1	0	7	66				
ADAM8	101	broad.mit.edu	37	10	135085933	135085933	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135085933C>T	ENST00000445355.3	-	9	912	c.862G>A	c.(862-864)Gta>Ata	p.V288I	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Missense_Mutation_p.V249I|ADAM8_ENST00000415217.3_Missense_Mutation_p.V288I	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	288	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ATGAGCTGTACGTTGTCATGC	0.687																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(862-864)Gta>Ata		ADAM metallopeptidase domain 8							69.0	59.0	62.0					10																	135085933		2202	4300	6502	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135085933C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.862G>A	10.37:g.135085933C>T	ENSP00000453302:p.Val288Ile					ADAM8_ENST00000485491.2_Missense_Mutation_p.V249I|ADAM8_ENST00000415217.3_Missense_Mutation_p.V288I	p.V288I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	9	912	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	249					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.862G>A	CCDS31319.2																																																																																				0.687	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		15	19	0	0	0	1	0	15	19				
USH2A	7399	broad.mit.edu	37	1	215847889	215847889	+	Missense_Mutation	SNP	G	G	A	rs373152283		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215847889G>A	ENST00000307340.3	-	63	13750	c.13364C>T	c.(13363-13365)aCa>aTa	p.T4455I	USH2A_ENST00000366943.2_Missense_Mutation_p.T4455I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4455	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTGAGCCTGTGACTTGCAA	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13363-13365)aCa>aTa		Usher syndrome 2A (autosomal recessive, mild)		G	ILE/THR	0,4406		0,0,2203	103.0	102.0	102.0		13364	3.5	1.0	1		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	4455/5203	215847889	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847889G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13364C>T	1.37:g.215847889G>A	ENSP00000305941:p.Thr4455Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T4455I	p.T4455I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13750	-			4455			Fibronectin type-III 30.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13364C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678733	0.29783	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	4.41	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.422384	0.17550	U	0.170207	T	0.55545	0.1927	L	0.44542	1.39	0.46096	D	0.99886	D	0.60160	0.987	P	0.58620	0.842	T	0.45308	-0.9270	10	0.20519	T	0.43	.	10.0947	0.42469	0.1836:0.0:0.8164:0.0	.	4455	O75445	USH2A_HUMAN	I	4455	ENSP00000305941:T4455I;ENSP00000355910:T4455I	ENSP00000305941:T4455I	T	-	2	0	USH2A	213914512	1.000000	0.71417	0.970000	0.41538	0.926000	0.56050	3.180000	0.50895	0.942000	0.37525	0.467000	0.42956	ACA		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	72	0	0	0	1	0	17	72				
LIN54	132660	broad.mit.edu	37	4	83905871	83905871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905871C>T	ENST00000340417.3	-	2	504	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.E43K|LIN54_ENST00000395282.2_Missense_Mutation_p.E43K|LIN54_ENST00000506560.1_Missense_Mutation_p.E43K|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.E43K	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	43					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TCTTCCAGTTCTGTCTCCATG	0.413																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(127-129)Gaa>Aaa		lin-54 homolog (C. elegans)							166.0	153.0	157.0					4																	83905871		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905871C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.127G>A	4.37:g.83905871C>T	ENSP00000341947:p.Glu43Lys					LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.E43K|LIN54_ENST00000506560.1_Missense_Mutation_p.E43K|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.E43K|LIN54_ENST00000395283.2_Missense_Mutation_p.E43K|LIN54_ENST00000510557.1_Intron	p.E43K	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			2	504	-		Hepatocellular(203;0.114)	43					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.127G>A	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433014	0.62844	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.25	5.25	0.73442	.	0.268147	0.40064	N	0.001192	T	0.48554	0.1506	L	0.27053	0.805	0.80722	D	1	B;B	0.32245	0.361;0.007	B;B	0.31614	0.133;0.006	T	0.51164	-0.8740	9	0.54805	T	0.06	-19.0668	18.8357	0.92162	0.0:1.0:0.0:0.0	.	43;43	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	K	43	.	ENSP00000341947:E43K	E	-	1	0	LIN54	84124895	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.749000	0.74883	2.447000	0.82792	0.655000	0.94253	GAA		0.413	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		28	51	0	0	0	1	0	28	51				
SP4	6671	broad.mit.edu	37	7	21469479	21469479	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21469479A>G	ENST00000222584.3	+	3	914	c.696A>G	c.(694-696)caA>caG	p.Q232Q		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	232					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TTCCGGTCCAAATTAGACCTG	0.438																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(694-696)caA>caG		Sp4 transcription factor							76.0	77.0	77.0					7																	21469479		2203	4300	6503	SO:0001819	synonymous_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469479A>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.696A>G	7.37:g.21469479A>G							p.Q232Q	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	914	+			232					O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	c.696A>G	CCDS5373.1																																																																																				0.438	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		3	101	0	0	0	1	0	3	101				
KIAA0408	9729	broad.mit.edu	37	6	127768259	127768259	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127768259T>C	ENST00000483725.3	-	5	1541	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	402										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AAGATCAGGATGAGATTTAGC	0.438																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1204-1206)cAt>cGt		KIAA0408							80.0	80.0	80.0					6																	127768259		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127768259T>C	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1205A>G	6.37:g.127768259T>C	ENSP00000435150:p.His402Arg					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.H402R	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	1541	-			402					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.1205A>G	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	3.279	-0.147435	0.06627	.	.	ENSG00000189367	ENST00000483725	T	0.32272	1.46	5.15	1.35	0.21983	.	1.016160	0.07938	U	0.978759	T	0.07728	0.0194	L	0.28115	0.83	0.21220	N	0.99975	B	0.33171	0.4	B	0.33960	0.173	T	0.37979	-0.9682	10	0.30078	T	0.28	-1.6297	6.4076	0.21672	0.0:0.078:0.3047:0.6173	.	402	Q6ZU52	K0408_HUMAN	R	402	ENSP00000435150:H402R	ENSP00000435150:H402R	H	-	2	0	KIAA0408	127809952	0.802000	0.28943	0.861000	0.33841	0.950000	0.60333	0.995000	0.29706	0.261000	0.21753	0.533000	0.62120	CAT		0.438	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		54	72	0	0	0	1	0	54	72				
GRIN3A	116443	broad.mit.edu	37	9	104432710	104432710	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104432710T>C	ENST00000361820.3	-	3	2584	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	662					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGAGCTGCTGTATCTCGGGTC	0.522																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1984-1986)Aca>Gca		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						73.0	79.0	77.0					9																	104432710		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432710T>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1984A>G	9.37:g.104432710T>C	ENSP00000355155:p.Thr662Ala						p.T662A	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2584	-		Acute lymphoblastic leukemia(62;0.0568)	662					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1984A>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969274	0.74246	.	.	ENSG00000198785	ENST00000361820	T	0.48836	0.8	5.63	5.63	0.86233	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	L	0.52823	1.66	0.54753	D	0.999986	P	0.40144	0.704	P	0.47346	0.544	T	0.57063	-0.7875	10	0.59425	D	0.04	.	16.1915	0.81992	0.0:0.0:0.0:1.0	.	662	Q8TCU5	NMD3A_HUMAN	A	662	ENSP00000355155:T662A	ENSP00000355155:T662A	T	-	1	0	GRIN3A	103472531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.246000	0.72405	2.282000	0.76494	0.473000	0.43528	ACA		0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			6	77	0	0	0	1	0	6	77				
MAP3K4	4216	broad.mit.edu	37	6	161508949	161508949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508949C>A	ENST00000392142.4	+	10	2934	c.2786C>A	c.(2785-2787)cCt>cAt	p.P929H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.P929H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	929					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGTCGTGCCTCAGGTGGAG	0.522																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2785-2787)cCt>cAt		mitogen-activated protein kinase kinase kinase 4							94.0	67.0	76.0					6																	161508949		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161508949C>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2786C>A	6.37:g.161508949C>A	ENSP00000375986:p.Pro929His					MAP3K4_ENST00000366919.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.P929H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P929H	p.P929H	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	10	2934	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	929					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2786C>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949978	0.92660	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72615	-0.66;-0.66;-0.66;-0.67	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80231	-0.1468	10	0.66056	D	0.02	-25.503	20.3473	0.98799	0.0:1.0:0.0:0.0	.	929;929;929	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	H	929	ENSP00000355886:P929H;ENSP00000375986:P929H;ENSP00000355887:P929H;ENSP00000297332:P929H	ENSP00000297332:P929H	P	+	2	0	MAP3K4	161428939	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	7.374000	0.79633	2.884000	0.98904	0.655000	0.94253	CCT		0.522	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			9	29	1	0	7.48243e-07	1	8.70085e-07	9	29				
USP43	124739	broad.mit.edu	37	17	9632095	9632095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632095G>T	ENST00000285199.7	+	15	3256	c.3160G>T	c.(3160-3162)Ggc>Tgc	p.G1054C	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.G1049C	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1054					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTGGCCAGGGGCCTGGGCAG	0.711																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(2227-2229)Ggc>Tgc		ubiquitin specific peptidase 43							12.0	15.0	14.0					17																	9632095		1858	4100	5958	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9632095G>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3160G>T	17.37:g.9632095G>T	ENSP00000285199:p.Gly1054Cys					USP43_ENST00000570475.1_Missense_Mutation_p.G1049C|USP43_ENST00000285199.6_Missense_Mutation_p.G1054C	p.G743C			Q70EL4	UBP43_HUMAN			15	3301	+			1054					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.2227G>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829229	0.71258	.	.	ENSG00000154914	ENST00000285199	T	0.14893	2.47	4.98	2.99	0.34606	.	1.757100	0.02905	N	0.135893	T	0.34978	0.0916	L	0.47716	1.5	0.41360	D	0.987424	D;D;D;D	0.89917	0.998;0.998;0.995;1.0	P;D;P;D	0.68943	0.879;0.919;0.819;0.961	T	0.02909	-1.1095	10	0.52906	T	0.07	-6.5593	6.726	0.23357	0.0948:0.1789:0.7263:0.0	.	1049;743;1054;566	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	C	1054	ENSP00000285199:G1054C	ENSP00000285199:G1054C	G	+	1	0	USP43	9572820	0.998000	0.40836	0.706000	0.30403	0.986000	0.74619	2.779000	0.47734	0.688000	0.31529	0.655000	0.94253	GGC		0.711	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		3	11	1	0	0.004672	1	0.0049138	3	11				
OPA1	4976	broad.mit.edu	37	3	193363415	193363415	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193363415G>A	ENST00000392438.3	+	15	1750		c.e15+1		OPA1_ENST00000361510.2_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361715.2_Splice_Site|OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361828.2_Splice_Site	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACAGGAAAAGGTATGCAAAGA	0.284																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	GRCh37	CS012217|CS080721	OPA1	S		c.e17+1		optic atrophy 1 (autosomal dominant)							46.0	49.0	48.0					3																	193363415		2202	4289	6491	SO:0001630	splice_region_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193363415G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1516+1G>A	3.37:g.193363415G>A						OPA1_ENST00000392438.3_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site		NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	17	1915	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)							D3DNW4	Splice_Site	SNP	ENST00000392438.3	37		CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052220	0.75960	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6337	0.88116	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPA1	194846109	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.458000	0.97634	2.840000	0.97914	0.655000	0.94253	.		0.284	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	Intron	17	36	0	0	0	1	0	17	36				
SEC24A	10802	broad.mit.edu	37	5	134059261	134059261	+	Missense_Mutation	SNP	A	A	C	rs201973255		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134059261A>C	ENST00000398844.2	+	22	3356	c.3068A>C	c.(3067-3069)gAc>gCc	p.D1023A		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1023					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACAGACAGACCTTCCAGAA	0.308																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(3067-3069)gAc>gCc		SEC24 family member A							159.0	146.0	150.0					5																	134059261		1836	4089	5925	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134059261A>C	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3068A>C	5.37:g.134059261A>C	ENSP00000381823:p.Asp1023Ala						p.D1023A	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		22	3356	+			1023					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.3068A>C	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	7.215	0.596203	0.13875	.	.	ENSG00000113615	ENST00000398844	T	0.52754	0.65	5.66	4.5	0.54988	Gelsolin domain (1);	0.434279	0.27253	N	0.020216	T	0.25680	0.0625	N	0.11427	0.14	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.004	T	0.05954	-1.0854	10	0.08837	T	0.75	-2.2427	11.7862	0.52043	0.931:0.0:0.069:0.0	.	787;1023	B4E205;O95486	.;SC24A_HUMAN	A	1023	ENSP00000381823:D1023A	ENSP00000381823:D1023A	D	+	2	0	SEC24A	134087160	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	4.823000	0.62694	0.969000	0.38237	0.455000	0.32223	GAC		0.308	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			17	100	0	0	0	1	0	17	100				
DSCAM	1826	broad.mit.edu	37	21	41516605	41516605	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41516605G>A	ENST00000400454.1	-	17	3549	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1024	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTACTCTCGGTAACCTATTT	0.453																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3070-3072)taC>taT		Down syndrome cell adhesion molecule							88.0	85.0	86.0					21																	41516605		1961	4158	6119	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41516605G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3072C>T	21.37:g.41516605G>A							p.Y1024Y	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			17	3549	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1024			Fibronectin type-III 2.		O60468	Silent	SNP	ENST00000400454.1	37	c.3072C>T	CCDS42929.1																																																																																				0.453	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	57	0	0	0	1	0	5	57				
DYNC2H1	79659	broad.mit.edu	37	11	103048487	103048487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048487C>T	ENST00000375735.2	+	38	6221	c.6077C>T	c.(6076-6078)aCa>aTa	p.T2026I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2026I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2026	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACATGGACACAAGAGAATGG	0.393																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(6076-6078)aCa>aTa		dynein, cytoplasmic 2, heavy chain 1							123.0	120.0	121.0					11																	103048487		1906	4110	6016	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103048487C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6077C>T	11.37:g.103048487C>T	ENSP00000364887:p.Thr2026Ile					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2026I	p.T2026I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	38	6221	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2026			AAA 2 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6077C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908432	0.92107	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.89810	-2.57;-2.57	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.96222	0.8768	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96908	0.9665	9	0.87932	D	0	.	19.4752	0.94985	0.0:1.0:0.0:0.0	.	2026;2026	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2026	ENSP00000364887:T2026I;ENSP00000381167:T2026I	ENSP00000364887:T2026I	T	+	2	0	DYNC2H1	102553697	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.610000	0.88304	0.650000	0.86243	ACA		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	41	0	0	0	1	0	7	41				
ZNF501	115560	broad.mit.edu	37	3	44776049	44776049	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44776049G>T	ENST00000396048.2	+	3	573	c.136G>T	c.(136-138)Gga>Tga	p.G46*		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GATTCACAGAGGAGAGAAGCC	0.418																																						ENST00000396048.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(136-138)Gga>Tga		zinc finger protein 501							89.0	99.0	96.0					3																	44776049		2179	4291	6470	SO:0001587	stop_gained	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776049G>T	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.136G>T	3.37:g.44776049G>T	ENSP00000379363:p.Gly46*						p.G46*	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	573	+			46					B4DLY7|Q96NU9	Nonsense_Mutation	SNP	ENST00000396048.2	37	c.136G>T	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	G	36	5.899332	0.97081	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	.	.	.	2.4	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.5918	0.39550	0.0:0.0:0.7879:0.2121	.	.	.	.	X	46	.	ENSP00000330388:G46X	G	+	1	0	ZNF501	44751053	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	6.738000	0.74822	0.532000	0.28657	0.563000	0.77884	GGA		0.418	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		4	67	1	0	0.014758	1	0.0152625	4	67				
PPP1R3A	5506	broad.mit.edu	37	7	113519835	113519835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519835G>T	ENST00000284601.3	-	4	1380	c.1312C>A	c.(1312-1314)Ctg>Atg	p.L438M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	438					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTATCATCCAGGACTTCTTTG	0.408																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1312-1314)Ctg>Atg		protein phosphatase 1, regulatory subunit 3A							130.0	117.0	121.0					7																	113519835		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519835G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1312C>A	7.37:g.113519835G>T	ENSP00000284601:p.Leu438Met						p.L438M	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1380	-			438					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1312C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465887	0.26335	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.58358	1.41;0.34	5.77	-2.11	0.07187	.	0.467874	0.17514	N	0.171517	T	0.62036	0.2395	M	0.71581	2.175	0.21256	N	0.999747	D	0.76494	0.999	D	0.70227	0.968	T	0.53528	-0.8426	10	0.45353	T	0.12	-2.5684	6.4983	0.22153	0.46:0.119:0.421:0.0	.	438	Q16821	PPR3A_HUMAN	M	438;117	ENSP00000284601:L438M;ENSP00000401278:L117M	ENSP00000284601:L438M	L	-	1	2	PPP1R3A	113307071	0.021000	0.18746	0.014000	0.15608	0.002000	0.02628	0.044000	0.13992	-0.449000	0.07117	-0.291000	0.09656	CTG		0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		8	181	1	0	2.17888e-05	1	2.45068e-05	8	181				
HERC4	26091	broad.mit.edu	37	10	69714744	69714744	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69714744G>A	ENST00000395198.3	-	19	2440	c.2193C>T	c.(2191-2193)aaC>aaT	p.N731N	HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000412272.2_Silent_p.N731N|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.N723N|HERC4_ENST00000277817.6_Silent_p.N621N	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	731	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGTAATCTATGTTCTTTGTTT	0.338																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(2191-2193)aaC>aaT		HECT and RLD domain containing E3 ubiquitin protein ligase 4							128.0	123.0	125.0					10																	69714744		2203	4300	6503	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69714744G>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2193C>T	10.37:g.69714744G>A						HERC4_ENST00000277817.6_Silent_p.N621N|HERC4_ENST00000373700.4_Silent_p.N723N|HERC4_ENST00000412272.2_Silent_p.N731N|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000395187.2_3'UTR	p.N731N	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			19	2440	-			731			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.2193C>T	CCDS41533.1																																																																																				0.338	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		4	70	0	0	0	1	0	4	70				
AKR1D1	6718	broad.mit.edu	37	7	137776629	137776629	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137776629A>C	ENST00000242375.3	+	3	419	c.377A>C	c.(376-378)aAg>aCg	p.K126T	AKR1D1_ENST00000432161.1_Splice_Site_p.K126T|RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000411726.2_Splice_Site_p.K126T|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	126					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	ATGGCCTTTAAGGTGAGTTCA	0.512																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.e3+1		aldo-keto reductase family 1, member D1							93.0	89.0	90.0					7																	137776629		2203	4300	6503	SO:0001630	splice_region_variant	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137776629A>C	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.378+1A>C	7.37:g.137776629A>C						AKR1D1_ENST00000432161.1_Splice_Site_p.K126_splice|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Splice_Site_p.K126_splice	p.K126_splice	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			3	419	+			126					A1L4P6|A8K060|B4DPN3|B4DPN8	Splice_Site	SNP	ENST00000242375.3	37	c.378_splice	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204357	0.79127	.	.	ENSG00000122787	ENST00000297463;ENST00000432161;ENST00000411726;ENST00000242375;ENST00000438242	T;T;T;T	0.51325	1.95;1.95;1.95;0.71	5.27	5.27	0.74061	NADP-dependent oxidoreductase domain (3);	0.100317	0.64402	D	0.000003	T	0.64011	0.2560	L	0.57130	1.785	0.54753	D	0.999984	D;D;D	0.76494	0.999;0.991;0.999	D;D;D	0.79108	0.988;0.942;0.992	T	0.67051	-0.5768	10	0.87932	D	0	.	13.1854	0.59677	1.0:0.0:0.0:0.0	.	126;126;126	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	T	4;126;126;126;70	ENSP00000389197:K126T;ENSP00000402374:K126T;ENSP00000242375:K126T;ENSP00000397042:K70T	ENSP00000242375:K126T	K	+	2	0	AKR1D1	137427169	1.000000	0.71417	0.982000	0.44146	0.852000	0.48524	6.406000	0.73276	2.216000	0.71823	0.459000	0.35465	AAG		0.512	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989	Missense_Mutation	8	88	0	0	0	1	0	8	88				
CCNL1	57018	broad.mit.edu	37	3	156867624	156867624	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156867624C>T	ENST00000295926.3	-	8	1140		c.e8+1		CCNL1_ENST00000461804.1_Splice_Site|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ATACATCTTACATGGCTTGGA	0.398																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.e8+1		cyclin L1							68.0	74.0	72.0					3																	156867624		2203	4300	6503	SO:0001630	splice_region_variant	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156867624C>T	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1021+1G>A	3.37:g.156867624C>T						CCNL1_ENST00000461804.1_Splice_Site		NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		8	1140	-								B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Splice_Site	SNP	ENST00000295926.3	37		CCDS3178.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390962	0.82902	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCNL1	158350318	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.200000	0.77838	2.687000	0.91594	0.655000	0.94253	.		0.398	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307	Intron	9	60	0	0	0	1	0	9	60				
IGSF9	57549	broad.mit.edu	37	1	159897171	159897171	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159897171C>T	ENST00000368094.1	-	21	3701	c.3504G>A	c.(3502-3504)caG>caA	p.Q1168Q	IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000320307.4_5'Flank|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000361509.3_Silent_p.Q1152Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1168					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGGACTGGCTGTCGATAGG	0.622																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3502-3504)caG>caA		immunoglobulin superfamily, member 9							52.0	56.0	54.0					1																	159897171		2104	4125	6229	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159897171C>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3504G>A	1.37:g.159897171C>T						IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.Q1152Q	p.Q1168Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3701	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1168						Silent	SNP	ENST00000368094.1	37	c.3504G>A	CCDS44254.1																																																																																				0.622	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		44	34	0	0	0	1	0	44	34				
C8orf34	116328	broad.mit.edu	37	8	69633665	69633665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69633665C>T	ENST00000539993.1	+	10	1688	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I	C8orf34_ENST00000337103.4_Missense_Mutation_p.T355I|C8orf34_ENST00000518698.1_Missense_Mutation_p.T466I|C8orf34_ENST00000325233.3_Missense_Mutation_p.T124I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	380										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTAAACTAACAGGACCTGTA	0.274																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1063-1065)aCa>aTa		chromosome 8 open reading frame 34							94.0	103.0	100.0					8																	69633665		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69633665C>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1139C>T	8.37:g.69633665C>T	ENSP00000438159:p.Thr380Ile					C8orf34_ENST00000518698.1_Missense_Mutation_p.T466I|C8orf34_ENST00000325233.3_Missense_Mutation_p.T124I|C8orf34_ENST00000539993.1_Missense_Mutation_p.T380I	p.T355I			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		9	2656	+			380					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1064C>T		.	.	.	.	.	.	.	.	.	.	C	10.13	1.265592	0.23136	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.52057	0.68;0.73;0.72;0.71	5.55	2.31	0.28768	.	1.307360	0.05016	N	0.471880	T	0.40498	0.1119	L	0.47716	1.5	0.28787	N	0.899526	B	0.02656	0.0	B	0.04013	0.001	T	0.28106	-1.0054	9	.	.	.	-0.0331	5.8407	0.18633	0.0:0.6437:0.0:0.3563	.	380	Q49A92	CH034_HUMAN	I	466;380;355;124	ENSP00000427820:T466I;ENSP00000438159:T380I;ENSP00000337174:T355I;ENSP00000319532:T124I	.	T	+	2	0	C8orf34	69796219	0.788000	0.28762	0.654000	0.29608	0.454000	0.32378	-0.116000	0.10724	0.841000	0.35020	0.585000	0.79938	ACA		0.274	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		9	31	0	0	0	1	0	9	31				
CES5A	221223	broad.mit.edu	37	16	55905558	55905558	+	Silent	SNP	G	G	A	rs543903403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55905558G>A	ENST00000290567.9	-	3	517	c.396C>T	c.(394-396)gcC>gcT	p.A132A	CES5A_ENST00000518005.1_Silent_p.A26A|CES5A_ENST00000319165.9_Silent_p.A132A|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000521992.1_Silent_p.A161A|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	132						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGCCTGTATCGGCGTGGGCAG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		16455	0.0		0.0	False		,,,				2504	0.001					ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(481-483)gcC>gcT		carboxylesterase 5A							85.0	66.0	72.0					16																	55905558		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55905558G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.396C>T	16.37:g.55905558G>A						CES5A_ENST00000520435.1_Intron|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Silent_p.A26A|CES5A_ENST00000319165.9_Silent_p.A132A|CES5A_ENST00000290567.9_Silent_p.A132A	p.A161A	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			4	628	-			132					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.483C>T	CCDS45490.1																																																																																				0.557	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		4	40	0	0	0	1	0	4	40				
IBTK	25998	broad.mit.edu	37	6	82883097	82883097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883097G>T	ENST00000306270.7	-	27	4333	c.3784C>A	c.(3784-3786)Cta>Ata	p.L1262I	IBTK_ENST00000510291.1_Missense_Mutation_p.L1247I|IBTK_ENST00000503631.1_Missense_Mutation_p.L1061I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1262					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGACTGTCTAGAAGTGGTAAA	0.413																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(3784-3786)Cta>Ata		inhibitor of Bruton agammaglobulinemia tyrosine kinase							130.0	130.0	130.0					6																	82883097		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82883097G>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3784C>A	6.37:g.82883097G>T	ENSP00000305721:p.Leu1262Ile					IBTK_ENST00000510291.1_Missense_Mutation_p.L1247I|IBTK_ENST00000503631.1_Missense_Mutation_p.L1061I	p.L1262I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	27	4333	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	1262					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.3784C>A	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862421	0.17178	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.27557	1.99;1.66;1.99	5.83	0.613	0.17597	.	1.152020	0.06306	N	0.701839	T	0.07638	0.0192	L	0.27053	0.805	0.30416	N	0.778542	B;B;B;B	0.23806	0.091;0.0;0.051;0.0	B;B;B;B	0.17098	0.017;0.001;0.012;0.001	T	0.28586	-1.0039	10	0.36615	T	0.2	0.0366	6.3245	0.21237	0.0683:0.3682:0.4367:0.1268	.	1061;1247;213;1262	E9PDR5;E7EPI0;B3KX60;Q9P2D0	.;.;.;IBTK_HUMAN	I	1262;1061;1247	ENSP00000305721:L1262I;ENSP00000422762:L1061I;ENSP00000426405:L1247I	ENSP00000305721:L1262I	L	-	1	2	IBTK	82939816	0.303000	0.24463	0.960000	0.40013	0.994000	0.84299	0.678000	0.25277	0.069000	0.16605	0.655000	0.94253	CTA		0.413	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		19	53	1	0	4.54149e-19	1	5.93788e-19	19	53				
CDK13	8621	broad.mit.edu	37	7	40133841	40133841	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133841A>G	ENST00000181839.4	+	14	4406	c.3801A>G	c.(3799-3801)ccA>ccG	p.P1267P	CDK13_ENST00000340829.5_Silent_p.P1207P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1267					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTCCTGAACCACCACCAGTCA	0.527																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(3799-3801)ccA>ccG		cyclin-dependent kinase 13							151.0	138.0	143.0					7																	40133841		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40133841A>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3801A>G	7.37:g.40133841A>G						CDK13_ENST00000340829.5_Silent_p.P1207P	p.P1267P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			14	4406	+			1267					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.3801A>G	CCDS5461.1																																																																																				0.527	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		8	129	0	0	0	1	0	8	129				
SVIL	6840	broad.mit.edu	37	10	29811375	29811375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29811375A>G	ENST00000355867.4	-	16	4105	c.3353T>C	c.(3352-3354)cTt>cCt	p.L1118P	SVIL_ENST00000375400.3_Missense_Mutation_p.L692P|SVIL_ENST00000535393.1_Missense_Mutation_p.L16P|SVIL_ENST00000375398.2_Missense_Mutation_p.L1118P	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1118					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTGAGTCAAGAAGGCCCTC	0.488																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(3352-3354)cTt>cCt		supervillin							74.0	74.0	74.0					10																	29811375		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29811375A>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3353T>C	10.37:g.29811375A>G	ENSP00000348128:p.Leu1118Pro					SVIL_ENST00000355867.4_Missense_Mutation_p.L1118P|SVIL_ENST00000535393.1_Missense_Mutation_p.L16P|SVIL_ENST00000375400.3_Missense_Mutation_p.L692P	p.L1118P			O95425	SVIL_HUMAN			18	3802	-		Breast(68;0.103)	1118					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3353T>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339137	0.24253	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.15256	2.61;2.61;2.61;2.44	5.82	4.69	0.59074	.	0.556195	0.18458	N	0.140615	T	0.30103	0.0754	M	0.66939	2.045	0.21604	N	0.999623	P;D;B	0.55800	0.828;0.973;0.13	P;P;B	0.53809	0.653;0.735;0.177	T	0.09862	-1.0655	10	0.46703	T	0.11	-8.2639	10.5883	0.45296	0.8663:0.0:0.1337:0.0	.	16;692;1118	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	P	692;1118;1118;16;72	ENSP00000364549:L692P;ENSP00000364547:L1118P;ENSP00000348128:L1118P;ENSP00000445472:L16P	ENSP00000348128:L1118P	L	-	2	0	SVIL	29851381	0.704000	0.27836	0.001000	0.08648	0.037000	0.13140	2.774000	0.47694	1.029000	0.39812	-0.400000	0.06385	CTT		0.488	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	28	0	0	0	1	0	20	28				
ESRRA	2101	broad.mit.edu	37	11	64083220	64083220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64083220C>T	ENST00000405666.1	+	7	1288	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank|ESRRA_ENST00000406310.1_Nonsense_Mutation_p.R351*|ESRRA_ENST00000000442.6_Nonsense_Mutation_p.R352*|PRDX5_ENST00000352435.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	352	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGAGCAGCTGCGAGAAGCTCT	0.667																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(1054-1056)Cga>Tga		estrogen-related receptor alpha							69.0	70.0	69.0					11																	64083220		2006	4188	6194	SO:0001587	stop_gained	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64083220C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1054C>T	11.37:g.64083220C>T	ENSP00000384851:p.Arg352*					ESRRA_ENST00000000442.6_Nonsense_Mutation_p.R352*|ESRRA_ENST00000406310.1_Nonsense_Mutation_p.R351*	p.R352*			P11474	ERR1_HUMAN			7	1288	+			352			Ligand binding domain.		Q14514	Nonsense_Mutation	SNP	ENST00000405666.1	37	c.1054C>T	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695286	0.68386	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000405666	.	.	.	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.7699	0.69668	0.0:1.0:0.0:0.0	.	.	.	.	X	351;352;352	.	ENSP00000000442:R352X	R	+	1	2	ESRRA	63839796	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.606000	0.82863	2.436000	0.82500	0.561000	0.74099	CGA		0.667	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		6	84	0	0	0	1	0	6	84				
MAP3K3	4215	broad.mit.edu	37	17	61768517	61768517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61768517G>A	ENST00000361733.3	+	13	1588	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	MAP3K3_ENST00000584573.1_Missense_Mutation_p.R450H|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R419H|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R454H|MAP3K3_ENST00000361357.3_Missense_Mutation_p.R454H	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.R423H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGCATGAGCGCATCGTGCAG	0.577																																						ENST00000361357.3																			1	Substitution - Missense(1)	p.R423H(1)	endometrium(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1360-1362)cGc>cAc		mitogen-activated protein kinase kinase kinase 3							128.0	102.0	111.0					17																	61768517		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61768517G>A	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1268G>A	17.37:g.61768517G>A	ENSP00000354485:p.Arg423His					MAP3K3_ENST00000584573.1_Missense_Mutation_p.R450H|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R454H|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R419H|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R423H	p.R454H	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			14	1679	+			423			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.1361G>A	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122071	0.94429	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.22336	1.96;1.96	5.28	4.31	0.51392	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	N	0.00602	-1.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.981;0.967	T	0.57866	-0.7737	10	0.72032	D	0.01	.	14.3057	0.66384	0.0722:0.0:0.9278:0.0	.	419;391;423;454	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	H	454;423	ENSP00000354927:R454H;ENSP00000354485:R423H	ENSP00000354927:R454H	R	+	2	0	MAP3K3	59122249	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	9.813000	0.99286	1.363000	0.46019	0.462000	0.41574	CGC		0.577	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		24	27	0	0	0	1	0	24	27				
GTF2A1L	11036	broad.mit.edu	37	2	48872236	48872236	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48872236T>C	ENST00000403751.3	+	5	405	c.368T>C	c.(367-369)gTg>gCg	p.V123A	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V827A|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V89A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V827A|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000394751.3_Intron|LHCGR_ENST00000420913.3_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	123					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAGGTGTGACACTACAG	0.323																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(2479-2481)gTg>gCg									113.0	116.0	115.0					2																	48872236		2203	4300	6503	SO:0001583	missense	0				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48872236T>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.368T>C	2.37:g.48872236T>C	ENSP00000384597:p.Val123Ala					STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V827A|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V123A|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V827A|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V89A	p.V827A	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	2594	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	786					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2480T>C	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622764	0.66787	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.06	3.88	0.44766	.	0.166578	0.38959	N	0.001508	T	0.50514	0.1620	M	0.78456	2.415	0.20563	N	0.999881	P;B;P;B	0.50819	0.925;0.074;0.939;0.01	B;B;P;B	0.45538	0.352;0.077;0.484;0.015	T	0.51919	-0.8644	10	0.72032	D	0.01	.	8.0361	0.30493	0.0:0.0997:0.0:0.9003	.	89;827;123;827	Q9UNN4-2;B5MCF5;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	A	827;827;827;827;122;89;132;89;123	ENSP00000385499:V827A;ENSP00000385701:V827A;ENSP00000378236:V827A;ENSP00000311493:V827A;ENSP00000412645:V89A;ENSP00000396702:V132A;ENSP00000387896:V89A;ENSP00000384597:V123A	ENSP00000384597:V123A	V	+	2	0	STON1-GTF2A1L;GTF2A1L	48725740	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	3.367000	0.52350	0.842000	0.35045	0.383000	0.25322	GTG		0.323	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		3	39	0	0	0	1	0	3	39				
SPTBN4	57731	broad.mit.edu	37	19	40998936	40998936	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40998936T>G	ENST00000352632.3	+	5	648	c.562T>G	c.(562-564)Ttg>Gtg	p.L188V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L188V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L188V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	188	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L188V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTCTGCTCTTGTGGTGTCA	0.502																																						ENST00000352632.3																			1	Substitution - Missense(1)	p.L188V(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(562-564)Ttg>Gtg		spectrin, beta, non-erythrocytic 4							114.0	89.0	98.0					19																	40998936		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40998936T>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.562T>G	19.37:g.40998936T>G	ENSP00000263373:p.Leu188Val					SPTBN4_ENST00000595535.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L188V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L188V	p.L188V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	648	+			188			Actin-binding.|CH 2.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.562T>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302261	0.60195	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	D;D;D	0.95103	-3.61;-3.61;-3.61	3.73	-2.87	0.05700	Calponin homology domain (5);	0.439601	0.17106	U	0.186817	D	0.94118	0.8114	M	0.83223	2.63	0.80722	D	1	B;P	0.34412	0.054;0.453	B;B	0.43867	0.05;0.434	D	0.88477	0.3066	10	0.46703	T	0.11	.	8.8064	0.34941	0.0:0.6492:0.0:0.3508	.	188;188	Q9H254;Q71S06	SPTN4_HUMAN;.	V	188	ENSP00000263373:L188V;ENSP00000340345:L188V;ENSP00000340741:L188V	ENSP00000340345:L188V	L	+	1	2	SPTBN4	45690776	0.381000	0.25140	0.883000	0.34634	0.947000	0.59692	0.128000	0.15810	-0.698000	0.05085	0.234000	0.17832	TTG		0.502	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	35	0	0	0	1	0	4	35				
C14orf159	80017	broad.mit.edu	37	14	91655379	91655379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91655379G>T	ENST00000523771.1	+	9	1648	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	C14orf159_ENST00000520328.1_Nonsense_Mutation_p.E337*|C14orf159_ENST00000523816.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000522322.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000412671.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000518868.1_Nonsense_Mutation_p.E354*|C14orf159_ENST00000256324.10_Nonsense_Mutation_p.E354*|C14orf159_ENST00000428926.2_Nonsense_Mutation_p.E349*|C14orf159_ENST00000521077.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000525393.2_Nonsense_Mutation_p.E225*			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	349				E -> V (in Ref. 2; BAB14932). {ECO:0000305}.		mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGAGCCTCCAGAAGAGACAGA	0.557																																						ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1060-1062)Gaa>Taa		chromosome 14 open reading frame 159							60.0	53.0	55.0					14																	91655379		2203	4300	6503	SO:0001587	stop_gained	80017					mitochondrion		g.chr14:91655379G>T	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1045G>T	14.37:g.91655379G>T	ENSP00000429655:p.Glu349*					C14orf159_ENST00000428926.2_Nonsense_Mutation_p.E349*|C14orf159_ENST00000412671.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000256324.10_Nonsense_Mutation_p.E354*|C14orf159_ENST00000525393.2_Nonsense_Mutation_p.E225*|C14orf159_ENST00000523816.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000523771.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000522322.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000521077.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000520328.1_Nonsense_Mutation_p.E337*	p.E354*			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	12	1750	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	349					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Nonsense_Mutation	SNP	ENST00000523771.1	37	c.1060G>T	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	37	6.284577	0.97440	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	.	.	.	4.48	4.48	0.54585	.	0.120024	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	17.1474	0.86769	0.0:0.0:1.0:0.0	.	.	.	.	X	337;354;354;354;349;354;225;349;349;349;354	.	ENSP00000256324:E354X	E	+	1	0	C14orf159	90725132	1.000000	0.71417	0.815000	0.32552	0.130000	0.20726	6.317000	0.72862	2.026000	0.59711	0.655000	0.94253	GAA		0.557	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		6	39	1	0	3.59834e-05	1	4.01776e-05	6	39				
SLC8A2	6543	broad.mit.edu	37	19	47940750	47940750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47940750C>T	ENST00000236877.6	-	8	2474	c.2079G>A	c.(2077-2079)gaG>gaA	p.E693E	SLC8A2_ENST00000542837.1_Silent_p.E449E|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Silent_p.E156E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	693					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTAAAAACTGCTCCCTCCATG	0.517																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2077-2079)gaG>gaA		solute carrier family 8 (sodium/calcium exchanger), member 2							166.0	146.0	153.0					19																	47940750		2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47940750C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2079G>A	19.37:g.47940750C>T						SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Silent_p.E156E|SLC8A2_ENST00000542837.1_Silent_p.E449E	p.E693E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	8	2474	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	693					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.2079G>A	CCDS33065.1																																																																																				0.517	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			31	44	0	0	0	1	0	31	44				
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TGAAGTCCCCGTCCTTCAAGG	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(175-177)gaC>gaT		glutathione S-transferase theta 1	Glutathione(DB00143)						98.0	84.0	89.0					22																	24381723		1708	3615	5323	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24381723G>A																												ENST00000248935.5:c.177C>T	22.37:g.24381723G>A						GSTT1_ENST00000439996.2_Intron	p.D59D	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			2	229	-			59			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.177C>T	CCDS13822.1																																																																																				0.562	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			5	29	0	0	0	1	0	5	29				
PPP6R2	9701	broad.mit.edu	37	22	50860689	50860689	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50860689G>T	ENST00000216061.5	+	10	1222	c.852G>T	c.(850-852)gaG>gaT	p.E284D	PPP6R2_ENST00000395741.3_Missense_Mutation_p.E285D|PPP6R2_ENST00000359139.3_Missense_Mutation_p.E284D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E284D			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	284						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACAGGACAGAGGGCTTGGTGG	0.582																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(850-852)gaG>gaT		protein phosphatase 6, regulatory subunit 2							97.0	95.0	96.0					22																	50860689		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50860689G>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.852G>T	22.37:g.50860689G>T	ENSP00000216061:p.Glu284Asp					PPP6R2_ENST00000395744.3_Missense_Mutation_p.E284D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E285D|PPP6R2_ENST00000216061.5_Missense_Mutation_p.E284D	p.E284D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			9	1246	+			284					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.852G>T		.	.	.	.	.	.	.	.	.	.	G	13.41	2.228929	0.39399	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.32023	1.49;1.53;1.49;1.47	5.32	0.782	0.18567	.	0.209771	0.48767	N	0.000165	T	0.15522	0.0374	L	0.31371	0.925	0.35445	D	0.795202	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.13407	0.005;0.009;0.009;0.005;0.007	T	0.09818	-1.0657	10	0.30078	T	0.28	-19.2122	0.758	0.01002	0.2845:0.1655:0.3799:0.1701	.	284;284;285;284;284	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	D	284;285;284;284	ENSP00000352051:E284D;ENSP00000379090:E285D;ENSP00000379093:E284D;ENSP00000216061:E284D	ENSP00000216061:E284D	E	+	3	2	PPP6R2	49207555	0.992000	0.36948	0.997000	0.53966	0.975000	0.68041	0.647000	0.24812	0.200000	0.20447	0.456000	0.33151	GAG		0.582	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		8	87	1	0	0.000442599	1	0.00048047	8	87				
SH3PXD2B	285590	broad.mit.edu	37	5	171765664	171765664	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171765664C>A	ENST00000311601.5	-	13	2615	c.2445G>T	c.(2443-2445)caG>caT	p.Q815H	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	815					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTGTCATCCTGGCCCCCCA	0.612																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2443-2445)caG>caT		SH3 and PX domains 2B							40.0	40.0	40.0					5																	171765664		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765664C>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2445G>T	5.37:g.171765664C>A	ENSP00000309714:p.Gln815His					SH3PXD2B_ENST00000519643.1_Intron	p.Q815H	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2615	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	815					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.2445G>T	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	2.756	-0.258930	0.05791	.	.	ENSG00000174705	ENST00000311601	T	0.61980	0.06	5.11	-10.2	0.00374	.	0.380696	0.24067	N	0.041851	T	0.30355	0.0762	N	0.17082	0.46	0.21220	N	0.999754	B	0.02656	0.0	B	0.04013	0.001	T	0.10917	-1.0609	9	.	.	.	-4.2425	6.9952	0.24779	0.1036:0.5396:0.2103:0.1464	.	815	A1X283	SPD2B_HUMAN	H	815	ENSP00000309714:Q815H	.	Q	-	3	2	SH3PXD2B	171698269	0.485000	0.25972	0.001000	0.08648	0.008000	0.06430	-0.303000	0.08210	-2.302000	0.00657	-0.379000	0.06801	CAG		0.612	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		3	23	1	0	0.004672	1	0.0049138	3	23				
FOLH1	2346	broad.mit.edu	37	11	49207305	49207305	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207305G>A	ENST00000256999.2	-	6	1002	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	FOLH1_ENST00000533034.1_Missense_Mutation_p.L233F|FOLH1_ENST00000356696.3_Missense_Mutation_p.L248F|FOLH1_ENST00000340334.7_Missense_Mutation_p.L233F|FOLH1_ENST00000343844.4_Intron	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	248					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.L248V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CCTCCAGGAAGATTCCAACCA	0.507																																						ENST00000340334.7																			1	Substitution - Missense(1)	p.L248V(1)	NS(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(697-699)Ctt>Ttt		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						50.0	62.0	58.0					11																	49207305		2201	4293	6494	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207305G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.742C>T	11.37:g.49207305G>A	ENSP00000256999:p.Leu248Phe					FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.L248F|FOLH1_ENST00000256999.2_Missense_Mutation_p.L248F|FOLH1_ENST00000533034.1_Missense_Mutation_p.L233F	p.L233F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			7	1065	-			248					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.697C>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532033	0.64972	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	3.01	3.01	0.34805	Protease-associated domain, PA (1);	0.000000	0.45867	D	0.000323	T	0.36826	0.0981	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;0.997;0.994	T	0.52049	-0.8627	10	0.72032	D	0.01	.	11.8829	0.52586	0.0:0.0:1.0:0.0	.	233;233;248;248	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	F	248;248;233;233;248	ENSP00000256999:L248F;ENSP00000349129:L248F;ENSP00000344131:L233F;ENSP00000431463:L233F	ENSP00000256999:L248F	L	-	1	0	FOLH1	49163881	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.802000	0.62539	1.723000	0.51488	0.400000	0.26472	CTT		0.507	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		11	26	0	0	0	1	0	11	26				
IFT122	55764	broad.mit.edu	37	3	129196977	129196977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129196977G>A	ENST00000348417.2	+	12	1343	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	IFT122_ENST00000440957.2_Missense_Mutation_p.M213I|IFT122_ENST00000347300.2_Missense_Mutation_p.M363I|IFT122_ENST00000507564.1_Missense_Mutation_p.M414I|IFT122_ENST00000349441.2_Missense_Mutation_p.M311I|IFT122_ENST00000296266.3_Missense_Mutation_p.M473I|IFT122_ENST00000431818.2_Missense_Mutation_p.M272I|IFT122_ENST00000504021.1_Missense_Mutation_p.M316I	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	422					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATCAGACATGCATTACCGGG	0.453																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1417-1419)atG>atA		intraflagellar transport 122 homolog (Chlamydomonas)							118.0	113.0	114.0					3																	129196977		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129196977G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1266G>A	3.37:g.129196977G>A	ENSP00000324005:p.Met422Ile					IFT122_ENST00000507564.1_Missense_Mutation_p.M414I|IFT122_ENST00000504021.1_Missense_Mutation_p.M316I|IFT122_ENST00000440957.2_Missense_Mutation_p.M213I|IFT122_ENST00000349441.2_Missense_Mutation_p.M311I|IFT122_ENST00000348417.2_Missense_Mutation_p.M422I|IFT122_ENST00000347300.2_Missense_Mutation_p.M363I|IFT122_ENST00000431818.2_Missense_Mutation_p.M272I	p.M473I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			13	1611	+			422					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.1419G>A	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.205407|4.205407	0.79127|0.79127	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000515783|ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.|T;T;T;T;T;T;T;T	.|0.76186	.|-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88883|0.88883	0.6558|0.6558	M|M	0.89658|0.89658	3.05|3.05	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D;D;P;D	.|0.64830	.|0.962;0.74;0.994;0.994;0.983;0.966;0.936;0.962	.|D;P;P;P;P;P;P;D	.|0.66716	.|0.946;0.577;0.71;0.798;0.71;0.773;0.885;0.946	D|D	0.90591|0.90591	0.4537|0.4537	5|10	.|0.72032	.|D	.|0.01	-33.2763|-33.2763	19.4699|19.4699	0.94959|0.94959	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|213;414;316;262;311;363;422;473	.|E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.|.;.;.;.;.;.;IF122_HUMAN;.	T|I	249|363;473;414;363;272;316;311;422;262;213	.|ENSP00000323973:M363I;ENSP00000296266:M473I;ENSP00000425536:M414I;ENSP00000410946:M272I;ENSP00000422179:M316I;ENSP00000324165:M311I;ENSP00000324005:M422I;ENSP00000401569:M213I	.|ENSP00000296266:M473I	A|M	+|+	1|3	0|0	IFT122|IFT122	130679667|130679667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	9.082000|9.082000	0.94059|0.94059	2.608000|2.608000	0.88229|0.88229	0.591000|0.591000	0.81541|0.81541	GCA|ATG		0.453	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		12	24	0	0	0	1	0	12	24				
GMCL1	64395	broad.mit.edu	37	2	70098941	70098941	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70098941A>C	ENST00000282570.3	+	13	1680	c.1429A>C	c.(1429-1431)Ata>Cta	p.I477L		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	477					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCTATCAAATACTTACACT	0.279																																						ENST00000282570.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1429-1431)Ata>Cta		germ cell-less, spermatogenesis associated 1							99.0	103.0	102.0					2																	70098941		2203	4291	6494	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70098941A>C	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1429A>C	2.37:g.70098941A>C	ENSP00000282570:p.Ile477Leu						p.I477L	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN			13	1680	+			477					Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.1429A>C	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.600097	0.46423	.	.	ENSG00000087338	ENST00000282570	T	0.53640	0.61	4.94	4.94	0.65067	.	0.103200	0.64402	D	0.000004	T	0.33990	0.0882	N	0.25647	0.755	0.38011	D	0.934523	B	0.09022	0.002	B	0.10450	0.005	T	0.22800	-1.0206	10	0.21014	T	0.42	-20.1074	12.8285	0.57733	1.0:0.0:0.0:0.0	.	477	Q96IK5	GMCL1_HUMAN	L	477	ENSP00000282570:I477L	ENSP00000282570:I477L	I	+	1	0	GMCL1	69952445	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.891000	0.63185	1.968000	0.57251	0.374000	0.22700	ATA		0.279	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		21	44	0	0	0	1	0	21	44				
APPL1	26060	broad.mit.edu	37	3	57293919	57293919	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57293919G>T	ENST00000288266.3	+	17	1677	c.1530G>T	c.(1528-1530)atG>atT	p.M510I		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	510	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTGGTTCAATGGAGGTGAAAT	0.348																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1528-1530)atG>atT		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							85.0	83.0	84.0					3																	57293919		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57293919G>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1530G>T	3.37:g.57293919G>T	ENSP00000288266:p.Met510Ile						p.M510I	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	17	1677	+			510			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1530G>T	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054320	0.93793	.	.	ENSG00000157500	ENST00000288266	T	0.16897	2.31	5.43	5.43	0.79202	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.976;0.988	T	0.40496	-0.9560	10	0.87932	D	0	.	19.6173	0.95639	0.0:0.0:1.0:0.0	.	493;510	B4DQX8;Q9UKG1	.;DP13A_HUMAN	I	510	ENSP00000288266:M510I	ENSP00000288266:M510I	M	+	3	0	APPL1	57268959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.891000	0.87319	2.712000	0.92718	0.557000	0.71058	ATG		0.348	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		5	35	1	0	2.0095e-06	1	2.31757e-06	5	35				
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435201	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18435201C>A	ENST00000266497.5	+	1	224	c.186C>A	c.(184-186)acC>acA	p.T62T	PIK3C2G_ENST00000538779.1_Silent_p.T62T|PIK3C2G_ENST00000433979.1_Silent_p.T62T|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Silent_p.T62T			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	62					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGC	0.408																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(184-186)acC>acA		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							83.0	80.0	81.0					12																	18435201		1868	4090	5958	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435201C>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.186C>A	12.37:g.18435201C>A						PIK3C2G_ENST00000266497.5_Silent_p.T62T|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Silent_p.T62T|PIK3C2G_ENST00000535651.1_Silent_p.T62T	p.T62T	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			2	302	+		Hepatocellular(102;0.194)	62					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.186C>A	CCDS44839.1																																																																																				0.408	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		5	49	1	0	1.23904e-05	1	1.39987e-05	5	49				
KCNH5	27133	broad.mit.edu	37	14	63269221	63269221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63269221C>T	ENST00000322893.7	-	9	1916	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A492T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A550T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	550					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATCGAAAAGCAGGATGTTCA	0.493																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1648-1650)Gct>Act		potassium voltage-gated channel, subfamily H (eag-related), member 5							66.0	66.0	66.0					14																	63269221		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269221C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1648G>A	14.37:g.63269221C>T	ENSP00000321427:p.Ala550Thr					KCNH5_ENST00000394968.1_Missense_Mutation_p.A492T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A550T	p.A550T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1916	-			550					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1648G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794933	0.90453	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96651	-4.08;-4.08;-4.08	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	M	0.85542	2.76	0.80722	D	1	P;P;D	0.58268	0.696;0.803;0.982	P;P;P	0.58454	0.543;0.571;0.839	D	0.97729	1.0201	10	0.52906	T	0.07	.	15.065	0.71986	0.1432:0.8568:0.0:0.0	.	492;550;550	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	T	550;550;492	ENSP00000321427:A550T;ENSP00000395439:A550T;ENSP00000378419:A492T	ENSP00000321427:A550T	A	-	1	0	KCNH5	62338974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.029000	0.70895	1.262000	0.44165	0.563000	0.77884	GCT		0.493	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		24	24	0	0	0	1	0	24	24				
MUC3A	4584	broad.mit.edu	37	7	100549631	100549631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100549631G>T	ENST00000379458.4	+	2	212	c.212G>T	c.(211-213)aGg>aTg	p.R71M	MUC3A_ENST00000319509.7_5'Flank|MUC3A_ENST00000483366.1_3'UTR			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	71					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCTGGCCACAGGGAAAATGCA	0.577																																						ENST00000379458.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(211-213)aGg>aTg		mucin 3A, cell surface associated							165.0	151.0	156.0					7																	100549631		876	1991	2867	SO:0001583	missense	4584							g.chr7:100549631G>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000379458.4:c.212G>T	7.37:g.100549631G>T	ENSP00000368771:p.Arg71Met					MUC3A_ENST00000483366.1_3'UTR	p.71_71insM							2	212	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000379458.4	37	c.212G>T		.	.	.	.	.	.	.	.	.	.	G	9.211	1.030881	0.19590	.	.	ENSG00000228273	ENST00000379458	.	.	.	1.67	1.67	0.24075	.	.	.	.	.	T	0.30541	0.0768	N	0.19112	0.55	.	.	.	.	.	.	.	.	.	T	0.41680	-0.9495	5	0.54805	T	0.06	.	6.802	0.23756	0.0:0.0:1.0:0.0	.	.	.	.	M	71	.	ENSP00000368771:R71M	R	+	2	0	AC118759.1	100387567	0.033000	0.19621	0.027000	0.17364	0.042000	0.13812	1.018000	0.30002	1.253000	0.44018	0.313000	0.20887	AGG		0.577	MUC3A-201	NOVEL	basic|appris_principal	protein_coding	protein_coding		XM_001725354		13	102	1	0	1.55795e-14	1	1.98882e-14	13	102				
SLC25A24	29957	broad.mit.edu	37	1	108700209	108700209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108700209C>A	ENST00000565488.1	-	5	763	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D163Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	182					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GTGAATTCATCTGGAATAGTT	0.428																																						ENST00000565488.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(544-546)Gat>Tat		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24							110.0	107.0	108.0					1																	108700209		2203	4300	6503	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108700209C>A	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.544G>T	1.37:g.108700209C>A	ENSP00000457733:p.Asp182Tyr					SLC25A24_ENST00000370041.4_Missense_Mutation_p.D163Y	p.D182Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	5	763	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	182					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.544G>T	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651114	0.88056	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.42131	0.98	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	M	0.89095	3.005	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.968;0.979	T	0.73418	-0.3989	10	0.87932	D	0	-31.8334	18.0295	0.89278	0.0:1.0:0.0:0.0	.	182;163	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	Y	182;163	ENSP00000359058:D163Y	ENSP00000264128:D182Y	D	-	1	0	SLC25A24	108501732	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	7.698000	0.84413	2.560000	0.86352	0.585000	0.79938	GAT		0.428	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		8	154	1	0	0.000274275	1	0.000298791	8	154				
ZBED4	9889	broad.mit.edu	37	22	50277948	50277948	+	Missense_Mutation	SNP	C	C	T	rs374870557		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50277948C>T	ENST00000216268.5	+	2	1115	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	213						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAAAGTGGCGTCTAAGATC	0.552																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(637-639)gCg>gTg		zinc finger, BED-type containing 4		C	VAL/ALA	0,4406		0,0,2203	67.0	58.0	61.0		638	5.1	0.0	22		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZBED4	NM_014838.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	213/1172	50277948	1,13005	2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50277948C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.638C>T	22.37:g.50277948C>T	ENSP00000216268:p.Ala213Val						p.A213V	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1115	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	213					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.638C>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255836	0.59321	0.0	1.16E-4	ENSG00000100426	ENST00000216268	T	0.51071	0.72	5.07	5.07	0.68467	.	0.133335	0.49916	D	0.000128	T	0.38746	0.1052	L	0.29908	0.895	0.23981	N	0.996275	P	0.45428	0.858	B	0.38194	0.267	T	0.42732	-0.9434	10	0.59425	D	0.04	-11.4072	18.6409	0.91396	0.0:1.0:0.0:0.0	.	213	O75132	ZBED4_HUMAN	V	213	ENSP00000216268:A213V	ENSP00000216268:A213V	A	+	2	0	ZBED4	48663952	0.953000	0.32496	0.012000	0.15200	0.016000	0.09150	3.641000	0.54360	2.646000	0.89796	0.650000	0.86243	GCG		0.552	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		17	21	0	0	0	1	0	17	21				
CYP4B1	1580	broad.mit.edu	37	1	47283692	47283692	+	Silent	SNP	C	C	T	rs186785862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47283692C>T	ENST00000271153.4	+	10	1296	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	CYP4B1_ENST00000371923.4_Silent_p.P421P|CYP4B1_ENST00000452782.2_Silent_p.P258P|CYP4B1_ENST00000371919.4_Silent_p.P406P			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	420					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.P420P(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CTGTATGGCCCGACCCTGAGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19823	0.001		0.0	False		,,,				2504	0.0					ENST00000271153.4																			1	Substitution - coding silent(1)	p.P420P(1)	lung(1)	NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1258-1260)ccC>ccT		cytochrome P450, family 4, subfamily B, polypeptide 1							164.0	144.0	151.0					1																	47283692		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47283692C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1260C>T	1.37:g.47283692C>T						CYP4B1_ENST00000452782.2_Silent_p.P258P|CYP4B1_ENST00000371919.4_Silent_p.P406P|CYP4B1_ENST00000371923.4_Silent_p.P421P	p.P420P			P13584	CP4B1_HUMAN			10	1296	+	Acute lymphoblastic leukemia(166;0.155)		420					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.1260C>T	CCDS542.1																																																																																				0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		45	92	0	0	0	1	0	45	92				
MYH11	4629	broad.mit.edu	37	16	15814828	15814828	+	Silent	SNP	G	G	A	rs141031021	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814828G>A	ENST00000300036.5	-	33	4768	c.4659C>T	c.(4657-4659)gaC>gaT	p.D1553D	MYH11_ENST00000452625.2_Silent_p.D1560D|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Silent_p.D1553D|MYH11_ENST00000396324.3_Silent_p.D1560D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1553					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCAGCTCGTCCTCCAGCT	0.632			T	CBFB	AML								G|||	5	0.000998403	0.0038	0.0	5008	,	,		16830	0.0		0.0	False		,,,				2504	0.0					ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4657-4659)gaC>gaT		myosin, heavy chain 11, smooth muscle		G	,,,,,	1,4393	2.1+/-5.4	0,1,2196	100.0	93.0	96.0		4680,4680,,4659,,4659	-7.6	0.9	16	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	,,,,,	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	,,,,,	1560/1946,1560/1980,,1553/1973,,1553/1939	15814828	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814828G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4659C>T	16.37:g.15814828G>A						MYH11_ENST00000396324.3_Silent_p.D1560D|MYH11_ENST00000576790.1_Silent_p.D1553D|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Silent_p.D1560D|MYH11_ENST00000300036.5_Silent_p.D1553D|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	p.D1553D	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			33	4765	-			1553					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.4659C>T	CCDS10565.1																																																																																				0.632	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		28	70	0	0	0	1	0	28	70				
BCL3	602	broad.mit.edu	37	19	45262778	45262778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45262778C>A	ENST00000164227.5	+	9	1515	c.1271C>A	c.(1270-1272)cCt>cAt	p.P424H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	424	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TTCTTCCTTCCTTCCCCATCT	0.672			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1270-1272)cCt>cAt		B-cell CLL/lymphoma 3							132.0	143.0	139.0					19																	45262778		2203	4300	6503	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262778C>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1271C>A	19.37:g.45262778C>A	ENSP00000164227:p.Pro424His						p.P424H	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1515	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	424			Pro/Ser-rich.			Missense_Mutation	SNP	ENST00000164227.5	37	c.1271C>A	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569733	0.45798	.	.	ENSG00000069399	ENST00000164227	T	0.41400	1.0	4.5	4.5	0.54988	.	0.300887	0.23977	N	0.042711	T	0.43986	0.1272	L	0.27053	0.805	0.27029	N	0.964273	D	0.67145	0.996	P	0.54372	0.75	T	0.39143	-0.9628	10	0.66056	D	0.02	-25.3232	14.6699	0.68937	0.0:1.0:0.0:0.0	.	424	P20749	BCL3_HUMAN	H	424	ENSP00000164227:P424H	ENSP00000164227:P424H	P	+	2	0	BCL3	49954618	0.041000	0.20044	0.504000	0.27639	0.748000	0.42578	2.649000	0.46656	2.022000	0.59522	0.491000	0.48974	CCT		0.672	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		6	181	1	0	0.00116845	1	0.00124821	6	181				
PNMA3	29944	broad.mit.edu	37	X	152226235	152226235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226235C>T	ENST00000370264.4	+	1	849	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	PNMA3_ENST00000370265.4_Missense_Mutation_p.L275F|PNMA3_ENST00000447306.1_Missense_Mutation_p.L275F			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	275					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaacccctgctccaaagagc	0.478																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(823-825)Ctc>Ttc		paraneoplastic Ma antigen 3							134.0	125.0	128.0					X																	152226235		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226235C>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.823C>T	X.37:g.152226235C>T	ENSP00000359286:p.Leu275Phe					PNMA3_ENST00000370265.4_Missense_Mutation_p.L275F|PNMA3_ENST00000370264.4_Missense_Mutation_p.L275F	p.L275F	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1159	+	Acute lymphoblastic leukemia(192;6.56e-05)		275					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.823C>T	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	13.10	2.135441	0.37728	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.19532	2.14;2.14;2.14	1.98	1.98	0.26296	.	.	.	.	.	T	0.41558	0.1164	M	0.75884	2.315	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07347	-1.0777	9	0.59425	D	0.04	.	6.8643	0.24084	0.0:1.0:0.0:0.0	.	275	Q9UL41	PNMA3_HUMAN	F	275	ENSP00000359288:L275F;ENSP00000407642:L275F;ENSP00000359286:L275F	ENSP00000359286:L275F	L	+	1	0	PNMA3	151976891	0.868000	0.29978	0.027000	0.17364	0.003000	0.03518	0.781000	0.26774	1.297000	0.44761	0.464000	0.42555	CTC		0.478	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		49	82	0	0	0	1	0	49	82				
WRAP73	49856	broad.mit.edu	37	1	3548792	3548792	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3548792G>T	ENST00000270708.7	-	10	1106	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	WRAP73_ENST00000378322.3_Missense_Mutation_p.L345M	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	345						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTTGTCGCCAGGAAGTAGCTG	0.512																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(1033-1035)Ctg>Atg		WD repeat containing, antisense to TP73							250.0	224.0	232.0					1																	3548792		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3548792G>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1033C>A	1.37:g.3548792G>T	ENSP00000270708:p.Leu345Met					WRAP73_ENST00000270708.7_Missense_Mutation_p.L345M	p.L345M			Q9P2S5	WRP73_HUMAN			10	1091	-			345					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.1033C>A	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656071	0.47467	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.32023	3.07;3.06;1.47	5.35	4.44	0.53790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.070472	0.56097	D	0.000022	T	0.39145	0.1067	M	0.76328	2.33	0.53688	D	0.999977	P;P	0.48834	0.864;0.916	B;P	0.46796	0.327;0.527	T	0.34750	-0.9816	10	0.62326	D	0.03	-26.1372	9.5941	0.39563	0.16:0.0:0.84:0.0	.	345;300	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	M	345;345;300	ENSP00000270708:L345M;ENSP00000367573:L345M;ENSP00000416192:L300M	ENSP00000270708:L345M	L	-	1	2	WRAP73	3538652	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	3.942000	0.56614	1.253000	0.44018	0.655000	0.94253	CTG		0.512	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			42	65	1	0	1.22674e-20	1	1.61165e-20	42	65				
WAC	51322	broad.mit.edu	37	10	28903584	28903584	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28903584C>A	ENST00000354911.4	+	11	1687	c.1526C>A	c.(1525-1527)cCt>cAt	p.P509H	WAC_ENST00000347934.4_Missense_Mutation_p.P406H|WAC_ENST00000375664.4_Missense_Mutation_p.P464H|WAC_ENST00000375646.1_Missense_Mutation_p.P357H	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	509					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTCATGAACCTGTCTCTCCT	0.423																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1390-1392)cCt>cAt		WW domain containing adaptor with coiled-coil							131.0	111.0	118.0					10																	28903584		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28903584C>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1526C>A	10.37:g.28903584C>A	ENSP00000346986:p.Pro509His					WAC_ENST00000347934.4_Missense_Mutation_p.P406H|WAC_ENST00000375646.1_Missense_Mutation_p.P357H|WAC_ENST00000354911.4_Missense_Mutation_p.P509H	p.P464H			Q9BTA9	WAC_HUMAN			11	2000	+			509					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1391C>A	CCDS7159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.213767|4.213767	0.79352|0.79352	.|.	.|.	ENSG00000095787|ENSG00000095787	ENST00000338396|ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.053204	.|0.85682	.|D	.|0.000000	T|T	0.50446|0.50446	0.1616|0.1616	L|L	0.27053|0.27053	0.805|0.805	0.43919|0.43919	D|D	0.996569|0.996569	.|B;D;B	.|0.67145	.|0.32;0.996;0.214	.|B;P;B	.|0.59288	.|0.192;0.855;0.135	T|T	0.53244|0.53244	-0.8466|-0.8466	6|10	0.87932|0.72032	D|D	0|0.01	-15.7144|-15.7144	19.5303|19.5303	0.95226|0.95226	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|464;406;509	.|Q9BTA9-2;Q9BTA9-5;Q9BTA9	.|.;.;WAC_HUMAN	M|H	72|464;357;406;509	.|ENSP00000364816:P464H;ENSP00000364797:P357H;ENSP00000311106:P406H;ENSP00000346986:P509H	ENSP00000341462:L72M|ENSP00000311106:P406H	L|P	+|+	1|2	2|0	WAC|WAC	28943590|28943590	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.981000|0.981000	0.71138|0.71138	5.116000|5.116000	0.64661|0.64661	2.619000|2.619000	0.88677|0.88677	0.557000|0.557000	0.71058|0.71058	CTG|CCT		0.423	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		5	56	1	0	0.00116845	1	0.00124821	5	56				
NCOR1	9611	broad.mit.edu	37	17	16049780	16049780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16049780C>A	ENST00000268712.3	-	10	1249	c.992G>T	c.(991-993)aGg>aTg	p.R331M	NCOR1_ENST00000395848.1_Missense_Mutation_p.R222M|NCOR1_ENST00000395851.1_Missense_Mutation_p.R331M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	331	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTAGCTTTCCTCCGAGGATT	0.383																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(991-993)aGg>aTg		nuclear receptor corepressor 1							158.0	147.0	151.0					17																	16049780		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16049780C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.992G>T	17.37:g.16049780C>A	ENSP00000268712:p.Arg331Met					NCOR1_ENST00000395851.1_Missense_Mutation_p.R331M|NCOR1_ENST00000395848.1_Missense_Mutation_p.R222M	p.R331M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	10	1249	-			331			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.992G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756127	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D	0.87578	0.984;0.984;0.984;0.987;0.987;0.998	T	0.71965	-0.4433	10	0.87932	D	0	-9.6499	18.5255	0.90971	0.0:1.0:0.0:0.0	.	340;331;331;222;331;331	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	M	331;331;222;340;222;331;340	ENSP00000268712:R331M;ENSP00000379192:R331M;ENSP00000379189:R222M;ENSP00000407998:R331M;ENSP00000387727:R340M	ENSP00000268712:R331M	R	-	2	0	NCOR1	15990505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.696000	0.92011	0.561000	0.74099	AGG		0.383	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		32	27	1	0	5.6714e-07	1	6.62436e-07	32	27				
ENY2	56943	broad.mit.edu	37	8	110348394	110348394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110348394C>T	ENST00000520147.1	+	2	101	c.29C>T	c.(28-30)gCg>gTg	p.A10V	ENY2_ENST00000522407.1_Intron|ENY2_ENST00000521662.1_Missense_Mutation_p.A10V|ENY2_ENST00000521688.1_Missense_Mutation_p.A15V|NUDCD1_ENST00000239690.4_5'Flank					enhancer of yellow 2 homolog (Drosophila)											endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			ATGAGAGCAGCGATTAACCAA	0.348																																						ENST00000521688.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(43-45)gCg>gTg		enhancer of yellow 2 homolog (Drosophila)							113.0	112.0	113.0					8																	110348394		1917	4131	6048	SO:0001583	missense	56943				histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity	g.chr8:110348394C>T		CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000520147.1:c.29C>T	8.37:g.110348394C>T	ENSP00000429588:p.Ala10Val					ENY2_ENST00000521662.1_Missense_Mutation_p.A10V|ENY2_ENST00000522407.1_Intron|ENY2_ENST00000520147.1_Missense_Mutation_p.A10V	p.A15V	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)		2	189	+	all_neural(195;0.219)		15						Missense_Mutation	SNP	ENST00000520147.1	37	c.44C>T		.	.	.	.	.	.	.	.	.	.	C	14.87	2.664791	0.47572	.	.	ENSG00000120533	ENST00000521662;ENST00000521688;ENST00000520147	.	.	.	5.49	5.49	0.81192	.	0.190636	0.52532	D	0.000066	T	0.57770	0.2076	L	0.54323	1.7	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53995	-0.8359	9	0.14656	T	0.56	0.04	17.9606	0.89084	0.0:1.0:0.0:0.0	.	15	Q9NPA8	ENY2_HUMAN	V	10;15;10	.	ENSP00000339861:A10V	A	+	2	0	ENY2	110417570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.377000	0.73145	2.565000	0.86533	0.655000	0.94253	GCG		0.348	ENY2-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381006.1	NM_020189		5	17	0	0	0	1	0	5	17				
SLC35D1	23169	broad.mit.edu	37	1	67470071	67470071	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67470071C>T	ENST00000235345.5	-	12	1105	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	340					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TAGCCTCTGACTGTTTGCTCA	0.448																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(1018-1020)caG>caA		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						199.0	170.0	180.0					1																	67470071		2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67470071C>T	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.1020G>A	1.37:g.67470071C>T							p.Q340Q	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			12	1105	-			340					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.1020G>A	CCDS636.1																																																																																				0.448	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		20	38	0	0	0	1	0	20	38				
PLK2	10769	broad.mit.edu	37	5	57754828	57754828	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57754828G>T	ENST00000274289.3	-	2	662	c.362C>A	c.(361-363)cCt>cAt	p.P121H	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCTTTGATGAGGTTTAGCTAC	0.408																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(361-363)cCt>cAt		polo-like kinase 2							189.0	190.0	190.0					5																	57754828		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57754828G>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.362C>A	5.37:g.57754828G>T	ENSP00000274289:p.Pro121His						p.P121H	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	2	662	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	121			Protein kinase.		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.362C>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978563	0.92982	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.64991	-0.13	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	L	0.42529	1.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.70110	-0.4962	10	0.38643	T	0.18	-17.6522	20.8794	0.99867	0.0:0.0:1.0:0.0	.	23;121	B7Z9B4;Q9NYY3	.;PLK2_HUMAN	H	121;121;107	ENSP00000274289:P121H	ENSP00000274289:P121H	P	-	2	0	PLK2	57790585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	CCT		0.408	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		5	117	1	0	5.9392e-07	1	6.91975e-07	5	117				
MTHFS	10588	broad.mit.edu	37	15	80137593	80137593	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80137593T>C	ENST00000258874.3	-	3	631	c.571A>G	c.(571-573)Aag>Gag	p.K191E	RP11-38G5.4_ENST00000567415.1_lincRNA|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.K167E|ST20-MTHFS_ENST00000494999.1_5'Flank	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	191					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		TCATCTACCTTCATGTCGTTT	0.433																																						ENST00000258874.3																			0				endometrium(3)|large_intestine(1)|liver(1)	5						c.(571-573)Aag>Gag		5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)							156.0	138.0	144.0					15																	80137593		2203	4300	6503	SO:0001583	missense	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80137593T>C	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.571A>G	15.37:g.80137593T>C	ENSP00000258874:p.Lys191Glu					ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.K167E	p.K191E	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	3	631	-			191					H3BQ75	Missense_Mutation	SNP	ENST00000258874.3	37	c.571A>G	CCDS10311.1	.	.	.	.	.	.	.	.	.	.	T	2.966	-0.213608	0.06140	.	.	ENSG00000136371	ENST00000258874	T	0.42131	0.98	6.03	4.89	0.63831	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.690869	0.15476	N	0.260331	T	0.40094	0.1103	M	0.66297	2.02	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.33879	-0.9851	10	0.41790	T	0.15	-20.6485	7.8384	0.29384	0.0:0.0711:0.3459:0.5829	.	191	P49914	MTHFS_HUMAN	E	191	ENSP00000258874:K191E	ENSP00000258874:K191E	K	-	1	0	MTHFS	77924648	0.945000	0.32115	0.135000	0.22099	0.973000	0.67179	1.965000	0.40471	1.033000	0.39918	0.533000	0.62120	AAG		0.433	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		5	104	0	0	0	1	0	5	104				
POLI	11201	broad.mit.edu	37	18	51818404	51818404	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51818404G>T	ENST00000579534.1	+	9	1543	c.1400G>T	c.(1399-1401)aGt>aTt	p.S467I	POLI_ENST00000217800.5_Missense_Mutation_p.S341I|POLI_ENST00000406285.3_Missense_Mutation_p.S388I|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000579434.1_Missense_Mutation_p.S364I	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	467					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGCAAGCACAGTTTTGTAAGT	0.333								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(1399-1401)aGt>aTt	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							95.0	98.0	97.0					18																	51818404		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51818404G>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1400G>T	18.37:g.51818404G>T	ENSP00000462664:p.Ser467Ile					POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Missense_Mutation_p.S341I|POLI_ENST00000406285.3_Missense_Mutation_p.S388I|POLI_ENST00000579434.1_Missense_Mutation_p.S364I	p.S467I	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	9	1543	+			467					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.1400G>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	3.620	-0.077807	0.07184	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.51325	0.71	5.24	2.28	0.28536	.	1.487290	0.03680	N	0.245326	T	0.45756	0.1358	L	0.56769	1.78	0.31715	N	0.639031	P;B	0.37864	0.61;0.222	B;B	0.32864	0.154;0.054	T	0.50320	-0.8842	10	0.62326	D	0.03	-1.1181	9.2302	0.37432	0.0836:0.3571:0.5592:0.0	.	387;467	B7Z780;Q9UNA4	.;POLI_HUMAN	I	388;467	ENSP00000385196:S388I	ENSP00000217800:S467I	S	+	2	0	POLI	50072402	0.017000	0.18338	0.794000	0.32065	0.189000	0.23516	0.239000	0.18023	0.689000	0.31550	0.643000	0.83706	AGT		0.333	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		25	50	1	0	6.32553e-13	1	7.99037e-13	25	50				
TAOK2	9344	broad.mit.edu	37	16	29998656	29998656	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29998656C>A	ENST00000308893.4	+	16	4106	c.3063C>A	c.(3061-3063)gcC>gcA	p.A1021A	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.A848A|TAOK2_ENST00000543033.1_Silent_p.A908A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1021	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TACTCCTGGCCCAGGGTACCG	0.677																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3061-3063)gcC>gcA		TAO kinase 2							22.0	20.0	21.0					16																	29998656		2148	4239	6387	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998656C>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3063C>A	16.37:g.29998656C>A						TAOK2_ENST00000543033.1_Silent_p.A908A|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.A848A	p.A1021A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4106	+			1021			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.3063C>A	CCDS10663.1																																																																																				0.677	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		3	22	1	0	0.150653	1	0.152692	3	22				
HECTD1	25831	broad.mit.edu	37	14	31597844	31597844	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31597844A>G	ENST00000399332.1	-	25	5221	c.4733T>C	c.(4732-4734)tTg>tCg	p.L1578S	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1578S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1578	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTCCTCCCCAAAGTATTAGT	0.443																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(4732-4734)tTg>tCg		HECT domain containing E3 ubiquitin protein ligase 1							157.0	151.0	153.0					14																	31597844		2041	4198	6239	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31597844A>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4733T>C	14.37:g.31597844A>G	ENSP00000382269:p.Leu1578Ser					HECTD1_ENST00000553700.1_Missense_Mutation_p.L1578S	p.L1578S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	25	5221	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1578			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.4733T>C	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466267	0.43839	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.07114	3.22;3.22;3.22	6.16	6.16	0.99307	.	0.000000	0.56097	U	0.000031	T	0.15089	0.0364	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.30966	-0.9960	10	0.11485	T	0.65	-4.7345	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1578;1578	D3DS86;Q9ULT8	.;HECD1_HUMAN	S	1578;1580;1578;1005	ENSP00000450697:L1578S;ENSP00000382269:L1578S;ENSP00000451860:L1005S	ENSP00000261312:L1580S	L	-	2	0	HECTD1	30667595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	TTG		0.443	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			8	64	0	0	0	1	0	8	64				
SEL1L	6400	broad.mit.edu	37	14	81946082	81946082	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81946082A>G	ENST00000336735.4	-	20	2165	c.2049T>C	c.(2047-2049)gaT>gaC	p.D683D		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	683	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAGGTGAATATCCTATAATA	0.363																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(2047-2049)gaT>gaC		sel-1 suppressor of lin-12-like (C. elegans)							68.0	68.0	68.0					14																	81946082		2203	4300	6503	SO:0001819	synonymous_variant	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81946082A>G		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2049T>C	14.37:g.81946082A>G							p.D683D	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	20	2165	-			683			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Silent	SNP	ENST00000336735.4	37	c.2049T>C	CCDS9876.1																																																																																				0.363	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		5	62	0	0	0	1	0	5	62				
DOCK9	23348	broad.mit.edu	37	13	99532922	99532922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99532922G>A	ENST00000376460.1	-	26	2830	c.2750C>T	c.(2749-2751)gCg>gTg	p.A917V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A917V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A918V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A929V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	918					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCCTTATACGCGTACTTTGA	0.463																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2749-2751)gCg>gTg		dedicator of cytokinesis 9							105.0	98.0	100.0					13																	99532922		1966	4162	6128	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99532922G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2750C>T	13.37:g.99532922G>A	ENSP00000365643:p.Ala917Val					DOCK9_ENST00000442173.1_Missense_Mutation_p.A917V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A929V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A918V	p.A917V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			26	2830	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		918					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.2750C>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	1.808	-0.475368	0.04414	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.63580	4.06;4.06;-0.05;4.06	5.26	5.26	0.73747	.	0.053421	0.85682	D	0.000000	T	0.15565	0.0375	N	0.00020	-2.775	0.47737	D	0.999502	B;B;B;B;B	0.10296	0.002;0.003;0.001;0.001;0.003	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.001;0.002	T	0.52503	-0.8567	10	0.02654	T	1	-16.3749	12.5797	0.56383	0.0761:0.0:0.9239:0.0	.	918;917;917;917;918	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	V	917;918;918;918;917;918;929;917	ENSP00000365643:A917V;ENSP00000341086:A918V;ENSP00000401958:A929V;ENSP00000406883:A917V	ENSP00000341086:A918V	A	-	2	0	DOCK9	98330923	1.000000	0.71417	0.970000	0.41538	0.165000	0.22458	5.783000	0.68982	2.614000	0.88457	0.561000	0.74099	GCG		0.463	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		3	12	0	0	0	1	0	3	12				
MAN2A1	4124	broad.mit.edu	37	5	109159458	109159458	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109159458T>C	ENST00000261483.4	+	16	3538	c.2486T>C	c.(2485-2487)gTg>gCg	p.V829A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	829					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGTCAGAGTGACACATGGA	0.338																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2485-2487)gTg>gCg		mannosidase, alpha, class 2A, member 1							128.0	118.0	122.0					5																	109159458		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109159458T>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2486T>C	5.37:g.109159458T>C	ENSP00000261483:p.Val829Ala						p.V829A	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	16	3538	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	829					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2486T>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669073	0.47677	.	.	ENSG00000112893	ENST00000261483	D	0.84944	-1.92	5.57	5.57	0.84162	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.065271	0.64402	D	0.000010	D	0.89044	0.6603	M	0.81942	2.565	0.58432	D	0.999999	B	0.21225	0.053	B	0.37731	0.257	D	0.87757	0.2596	10	0.72032	D	0.01	-11.1803	15.4371	0.75155	0.0:0.0:0.0:1.0	.	829	Q16706	MA2A1_HUMAN	A	829	ENSP00000261483:V829A	ENSP00000261483:V829A	V	+	2	0	MAN2A1	109187357	1.000000	0.71417	0.967000	0.41034	0.343000	0.28985	5.242000	0.65389	2.124000	0.65301	0.456000	0.33151	GTG		0.338	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			33	48	0	0	0	1	0	33	48				
HERC1	8925	broad.mit.edu	37	15	63946458	63946458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63946458G>A	ENST00000443617.2	-	51	10237	c.10150C>T	c.(10150-10152)Cgg>Tgg	p.R3384W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3384					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCCATTGCCGATGCTGTGAG	0.562																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(10150-10152)Cgg>Tgg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							69.0	65.0	66.0					15																	63946458		2046	4208	6254	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63946458G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10150C>T	15.37:g.63946458G>A	ENSP00000390158:p.Arg3384Trp						p.R3384W	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			51	10237	-			3384					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.10150C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436079	0.62955	.	.	ENSG00000103657	ENST00000443617	T	0.36157	1.27	5.6	3.22	0.36961	.	0.066763	0.56097	U	0.000025	T	0.55641	0.1933	L	0.58101	1.795	0.49299	D	0.999772	D	0.89917	1.0	D	0.77557	0.99	T	0.58064	-0.7702	10	0.87932	D	0	.	15.1404	0.72607	0.0:0.0:0.5673:0.4327	.	3384	Q15751	HERC1_HUMAN	W	3384	ENSP00000390158:R3384W	ENSP00000390158:R3384W	R	-	1	2	HERC1	61733511	1.000000	0.71417	0.996000	0.52242	0.812000	0.45895	2.368000	0.44222	0.390000	0.25115	-0.484000	0.04775	CGG		0.562	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		17	20	0	0	0	1	0	17	20				
HNF4A	3172	broad.mit.edu	37	20	43030050	43030050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43030050C>T	ENST00000316099.4	+	1	127	c.38C>T	c.(37-39)gCc>gTc	p.A13V	HNF4A_ENST00000609795.1_Intron|HNF4A_ENST00000415691.2_Missense_Mutation_p.A13V|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.A13V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	13					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGACATGGCCGACTACAGT	0.637																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(37-39)gCc>gTc		hepatocyte nuclear factor 4, alpha							174.0	134.0	147.0					20																	43030050		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43030050C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.38C>T	20.37:g.43030050C>T	ENSP00000312987:p.Ala13Val					HNF4A_ENST00000415691.1_Missense_Mutation_p.A13V|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.A13V	p.A13V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	127	+		Myeloproliferative disorder(115;0.0122)	13					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.38C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006051	0.93287	.	.	ENSG00000101076	ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D	0.92911	-3.1;-3.13;-3.12	5.23	5.23	0.72850	.	4.134100	0.01049	U	0.004424	D	0.95290	0.8472	M	0.63843	1.955	0.80722	D	1	P;P;P	0.45474	0.773;0.859;0.855	P;P;P	0.51453	0.576;0.67;0.64	D	0.84350	0.0532	10	0.54805	T	0.06	.	18.4269	0.90612	0.0:1.0:0.0:0.0	.	13;13;13	P41235;F1D8S2;P41235-3	HNF4A_HUMAN;.;.	V	13	ENSP00000312987:A13V;ENSP00000410911:A13V;ENSP00000412111:A13V	ENSP00000312987:A13V	A	+	2	0	HNF4A	42463464	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.487000	0.81328	2.440000	0.82611	0.555000	0.69702	GCC		0.637	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			5	53	0	0	0	1	0	5	53				
C6orf136	221545	broad.mit.edu	37	6	30617356	30617356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30617356C>A	ENST00000376473.5	+	2	253	c.94C>A	c.(94-96)Cta>Ata	p.L32I	C6orf136_ENST00000293604.6_Missense_Mutation_p.L213I|C6orf136_ENST00000528347.2_5'Flank|C6orf136_ENST00000376471.4_Intron|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000493705.1_3'UTR	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	32						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCAGGGACTCTACCATTCCC	0.547																																						ENST00000293604.6																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(637-639)Cta>Ata		chromosome 6 open reading frame 136							245.0	244.0	244.0					6																	30617356		2004	4168	6172	SO:0001583	missense	221545							g.chr6:30617356C>A	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.94C>A	6.37:g.30617356C>A	ENSP00000365656:p.Leu32Ile					C6orf136_ENST00000376473.5_Missense_Mutation_p.L32I|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000493705.1_3'UTR	p.L213I	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			2	830	+			32					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.637C>A	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216717	0.39201	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000446773	.	.	.	6.03	3.27	0.37495	.	0.521263	0.18224	N	0.147781	T	0.14485	0.0350	L	0.27053	0.805	0.30612	N	0.759445	B;B	0.23806	0.091;0.002	B;B	0.19946	0.027;0.003	T	0.09250	-1.0683	9	0.36615	T	0.2	-3.1492	7.4551	0.27261	0.1331:0.7224:0.0:0.1445	.	213;32	F8VX15;Q5SQH8	.;CF136_HUMAN	I	213;32;150	.	ENSP00000293604:L213I	L	+	1	2	C6orf136	30725335	0.012000	0.17670	0.473000	0.27253	0.941000	0.58515	1.021000	0.30040	0.868000	0.35678	0.557000	0.71058	CTA		0.547	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		15	208	1	0	6.49762e-13	1	8.19883e-13	15	208				
CDC42EP4	23580	broad.mit.edu	37	17	71282025	71282025	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71282025G>A	ENST00000335793.3	-	2	1009	c.615C>T	c.(613-615)tcC>tcT	p.S205S	CDC42EP4_ENST00000439510.2_Silent_p.S135S|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	205					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGACATGATGGACTCCGCAT	0.622																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(613-615)tcC>tcT		CDC42 effector protein (Rho GTPase binding) 4							97.0	83.0	88.0					17																	71282025		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282025G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.615C>T	17.37:g.71282025G>A						CDC42EP4_ENST00000439510.2_Silent_p.S135S|CDC42EP4_ENST00000581014.1_Intron	p.S205S			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1009	-			205					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.615C>T	CCDS11695.1																																																																																				0.622	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		34	32	0	0	0	1	0	34	32				
ZNF676	163223	broad.mit.edu	37	19	22375896	22375896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22375896G>A	ENST00000397121.2	-	2	369	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCAGGTCTGGCTTAAAGGCA	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(52-54)Cca>Tca		zinc finger protein 676							82.0	100.0	94.0					19																	22375896		1509	2709	4218	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22375896G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.52C>T	19.37:g.22375896G>A	ENSP00000380310:p.Pro18Ser						p.P18S	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			2	369	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	18			KRAB.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.52C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	15.44	2.834241	0.50951	.	.	ENSG00000196109	ENST00000397121	T	0.00966	5.49	0.784	0.784	0.18578	Krueppel-associated box (3);	.	.	.	.	T	0.04137	0.0115	M	0.88310	2.945	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25257	-1.0137	9	0.87932	D	0	.	4.7436	0.13026	0.0:0.0:1.0:0.0	.	18	Q8N7Q3	ZN676_HUMAN	S	18	ENSP00000380310:P18S	ENSP00000380310:P18S	P	-	1	0	ZNF676	22167736	0.003000	0.15002	0.772000	0.31596	0.774000	0.43823	-0.095000	0.11077	0.181000	0.19994	0.184000	0.17185	CCA		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		19	52	0	0	0	1	0	19	52				
FAM60A	58516	broad.mit.edu	37	12	31446798	31446798	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31446798G>T	ENST00000337682.4	-	4	664	c.296C>A	c.(295-297)tCt>tAt	p.S99Y	FAM60A_ENST00000542983.1_De_novo_Start_OutOfFrame|FAM60A_ENST00000454658.2_Missense_Mutation_p.S99Y|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000395766.1_De_novo_Start_OutOfFrame	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	99					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CCTGTTCCCAGATAGAGTTTT	0.323																																						ENST00000395766.1																			0				large_intestine(1)|lung(2)	3								family with sequence similarity 60, member A							97.0	89.0	92.0					12																	31446798		2203	4297	6500	SO:0001583	missense	58516							g.chr12:31446798G>T	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.296C>A	12.37:g.31446798G>T	ENSP00000337477:p.Ser99Tyr					FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.S99Y|FAM60A_ENST00000337682.4_Missense_Mutation_p.S99Y|FAM60A_ENST00000542983.1_De_novo_Start_OutOfFrame		NM_001135811.1|NM_021238.2	NP_001129283.1|NP_067061.1	Q9NP50	FA60A_HUMAN			0	570	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)							D3DUV8|Q9BSZ8	Translation_Start_Site	SNP	ENST00000337682.4	37		CCDS8723.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486777	0.63962	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.83	4.83	0.62350	.	0.167096	0.56097	D	0.000035	T	0.57184	0.2036	M	0.66939	2.045	0.80722	D	1	P;D	0.54964	0.763;0.969	P;P	0.54100	0.447;0.742	T	0.62831	-0.6771	10	0.66056	D	0.02	-6.8032	18.2824	0.90102	0.0:0.0:1.0:0.0	.	99;140	Q9NP50;B7Z287	FA60A_HUMAN;.	Y	99;99;140;99;99	ENSP00000337477:S99Y;ENSP00000393279:S99Y;ENSP00000443881:S99Y;ENSP00000437363:S99Y	ENSP00000337477:S99Y	S	-	2	0	FAM60A	31338065	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.680000	0.68168	2.389000	0.81357	0.561000	0.74099	TCT		0.323	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		11	39	1	0	1.58986e-06	1	1.84011e-06	11	39				
TENC1	23371	broad.mit.edu	37	12	53457553	53457553	+	Missense_Mutation	SNP	C	C	T	rs532244378		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53457553C>T	ENST00000314250.6	+	29	4407	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	TENC1_ENST00000552570.1_Missense_Mutation_p.P1371S|TENC1_ENST00000314276.3_Missense_Mutation_p.P1383S|TENC1_ENST00000451358.1_Missense_Mutation_p.P1363S|TENC1_ENST00000546602.1_Missense_Mutation_p.P1276S|TENC1_ENST00000379902.3_Missense_Mutation_p.P1249S|TENC1_ENST00000549700.1_Missense_Mutation_p.P1308S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1373					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCAAGAAGCCGGGAAGCCC	0.537																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(4117-4119)Ccg>Tcg		tensin like C1 domain containing phosphatase (tensin 2)							147.0	150.0	149.0					12																	53457553		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53457553C>T	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.4117C>T	12.37:g.53457553C>T	ENSP00000319684:p.Pro1373Ser					TENC1_ENST00000552570.1_Missense_Mutation_p.P1371S|TENC1_ENST00000546602.1_Missense_Mutation_p.P1276S|TENC1_ENST00000549700.1_Missense_Mutation_p.P1308S|TENC1_ENST00000451358.1_Missense_Mutation_p.P1363S|TENC1_ENST00000314276.3_Missense_Mutation_p.P1383S|TENC1_ENST00000379902.3_Missense_Mutation_p.P1249S	p.P1373S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			29	4407	+			1373					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.4117C>T	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	5.601	0.295656	0.10622	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.81	2.8	0.32819	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.147295	0.44097	D	0.000482	T	0.16171	0.0389	N	0.04203	-0.255	0.42261	D	0.99201	B;B;P;B;B	0.40180	0.006;0.263;0.705;0.077;0.013	B;B;B;B;B	0.43445	0.059;0.225;0.42;0.098;0.059	T	0.06373	-1.0830	10	0.13853	T	0.58	.	12.2475	0.54578	0.0:0.5228:0.4772:0.0	.	1371;1373;1276;1373;1383	Q63HR2-6;A7E2A6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;.;TENC1_HUMAN;.	S	1249;1383;1373;1363;745;1276;1371;1308	ENSP00000369232:P1249S;ENSP00000319756:P1383S;ENSP00000319684:P1373S;ENSP00000393362:P1363S;ENSP00000449363:P1276S;ENSP00000447021:P1371S;ENSP00000449361:P1308S	ENSP00000319684:P1373S	P	+	1	0	TENC1	51743820	0.984000	0.35163	0.998000	0.56505	0.996000	0.88848	2.023000	0.41040	1.141000	0.42275	0.561000	0.74099	CCG		0.537	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		76	102	0	0	0	1	0	76	102				
NCS1	23413	broad.mit.edu	37	9	132980151	132980151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132980151G>A	ENST00000372398.3	+	3	216	c.130G>A	c.(130-132)Gat>Aat	p.D44N	NCS1_ENST00000493042.1_3'UTR|NCS1_ENST00000458469.1_Missense_Mutation_p.D26N	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						TGGGCAGCTGGATGCGGCAGG	0.537																																					Melanoma(30;182 1162 22581 33240)	ENST00000372398.3																			0				large_intestine(1)|lung(4)|stomach(1)	6						c.(130-132)Gat>Aat		neuronal calcium sensor 1							90.0	93.0	92.0					9																	132980151		2203	4300	6503	SO:0001583	missense	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132980151G>A	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.130G>A	9.37:g.132980151G>A	ENSP00000361475:p.Asp44Asn					NCS1_ENST00000493042.1_3'UTR|NCS1_ENST00000458469.1_Missense_Mutation_p.D26N	p.D44N	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN			3	216	+			44			EF-hand 1.		E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	c.130G>A	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	G	8.084	0.773109	0.16051	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	T;T	0.69806	-0.43;-0.43	4.55	3.65	0.41850	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	N	0.13272	0.32	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33523	-0.9865	10	0.02654	T	1	.	11.622	0.51124	0.0869:0.0:0.9131:0.0	.	26;44	E9PAY3;P62166	.;NCS1_HUMAN	N	44;26	ENSP00000361475:D44N;ENSP00000404103:D26N	ENSP00000361475:D44N	D	+	1	0	NCS1	132019972	1.000000	0.71417	0.930000	0.37139	0.089000	0.18198	6.420000	0.73349	0.913000	0.36797	0.557000	0.71058	GAT		0.537	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		41	48	0	0	0	1	0	41	48				
KIAA1191	57179	broad.mit.edu	37	5	175775000	175775000	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175775000T>C	ENST00000298569.4	-	8	1166	c.633A>G	c.(631-633)ggA>ggG	p.G211G	KIAA1191_ENST00000393725.2_Silent_p.G192G|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000533553.1_3'UTR|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000510164.1_Silent_p.G211G	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	211						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TATCCCCACTTCCAGAGTCCA	0.463																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(631-633)ggA>ggG		KIAA1191							80.0	81.0	81.0					5																	175775000		2203	4300	6503	SO:0001819	synonymous_variant	57179						protein binding	g.chr5:175775000T>C	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.633A>G	5.37:g.175775000T>C						KIAA1191_ENST00000393725.2_Silent_p.G192G|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Silent_p.G211G|KIAA1191_ENST00000533553.1_3'UTR	p.G211G	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	8	1166	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	211					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Silent	SNP	ENST00000298569.4	37	c.633A>G	CCDS4399.1																																																																																				0.463	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		6	88	0	0	0	1	0	6	88				
HIBADH	11112	broad.mit.edu	37	7	27565877	27565877	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27565877A>T	ENST00000265395.2	-	8	1173	c.967T>A	c.(967-969)Ttc>Atc	p.F323I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	323					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			ACGGATGAGAAGTCTTTCTTT	0.517																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(967-969)Ttc>Atc		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						122.0	93.0	103.0					7																	27565877		2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27565877A>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.967T>A	7.37:g.27565877A>T	ENSP00000265395:p.Phe323Ile						p.F323I	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		8	1173	-			323					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.967T>A	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124017	0.94429	.	.	ENSG00000106049	ENST00000265395	T	0.33216	1.42	6.16	6.16	0.99307	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.044023	0.85682	D	0.000000	T	0.50990	0.1648	M	0.87180	2.865	0.80722	D	1	P	0.49783	0.928	P	0.48654	0.585	T	0.60480	-0.7255	10	0.72032	D	0.01	-7.5201	16.8061	0.85666	1.0:0.0:0.0:0.0	.	323	P31937	3HIDH_HUMAN	I	323	ENSP00000265395:F323I	ENSP00000265395:F323I	F	-	1	0	HIBADH	27532402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	TTC		0.517	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		4	38	0	0	0	1	0	4	38				
PCNX	22990	broad.mit.edu	37	14	71500206	71500206	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71500206G>A	ENST00000304743.2	+	17	4065	c.3619G>A	c.(3619-3621)Gca>Aca	p.A1207T	PCNX_ENST00000238570.5_Missense_Mutation_p.A1207T|PCNX_ENST00000439984.3_Missense_Mutation_p.A1096T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1207						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATTAGTGGCAGTGTCTTA	0.348																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3619-3621)Gca>Aca		pecanex homolog (Drosophila)							162.0	145.0	151.0					14																	71500206		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71500206G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3619G>A	14.37:g.71500206G>A	ENSP00000304192:p.Ala1207Thr					PCNX_ENST00000439984.3_Missense_Mutation_p.A1096T|PCNX_ENST00000238570.5_Missense_Mutation_p.A1207T	p.A1207T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	17	4065	+			1207					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3619G>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.244990|5.244990	0.95272|0.95272	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.12984|.	2.96;2.86;2.63|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.097260|.	0.64402|.	D|.	0.000001|.	T|.	0.76615|.	0.4012|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.996;0.996;0.997|.	D;D;D|.	0.79784|.	0.993;0.936;0.989|.	T|.	0.74411|.	-0.3674|.	10|.	0.42905|.	T|.	0.14|.	.|.	19.8731|19.8731	0.96858|0.96858	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1207;1096;1207|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	T|X	1207;1207;1096|265	ENSP00000304192:A1207T;ENSP00000238570:A1207T;ENSP00000396617:A1096T|.	ENSP00000238570:A1207T|.	A|W	+|+	1|3	0|0	PCNX|PCNX	70569959|70569959	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.951000|0.951000	0.60555|0.60555	9.148000|9.148000	0.94652|0.94652	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GCA|TGG		0.348	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		30	56	0	0	0	1	0	30	56				
RASEF	158158	broad.mit.edu	37	9	85615413	85615413	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85615413C>A	ENST00000376447.3	-	11	1770	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	504					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTAACAGACCCTTGGGGCTTC	0.448																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1510-1512)Ggg>Tgg		RAS and EF-hand domain containing							74.0	80.0	78.0					9																	85615413		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615413C>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1510G>T	9.37:g.85615413C>A	ENSP00000365630:p.Gly504Trp						p.G504W	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			11	1770	-			504					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1510G>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412465	0.25465	.	.	ENSG00000165105	ENST00000376447	T	0.61040	0.14	5.77	3.92	0.45320	.	0.426959	0.25857	N	0.027858	T	0.53578	0.1805	L	0.47716	1.5	0.18873	N	0.999987	D	0.57899	0.981	P	0.48738	0.588	T	0.51293	-0.8724	10	0.87932	D	0	.	6.9942	0.24772	0.0:0.6593:0.1806:0.1601	.	504	Q8IZ41	RASEF_HUMAN	W	504	ENSP00000365630:G504W	ENSP00000365630:G504W	G	-	1	0	RASEF	84805233	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.412000	0.21131	1.439000	0.47511	0.462000	0.41574	GGG		0.448	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		14	33	1	0	6.31663e-08	1	7.49729e-08	14	33				
FLG2	388698	broad.mit.edu	37	1	152325257	152325257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325257G>A	ENST00000388718.5	-	3	5077	c.5005C>T	c.(5005-5007)Cat>Tat	p.H1669Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1669					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGTATGTGTGTGTGAG	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5005-5007)Cat>Tat		filaggrin family member 2							465.0	406.0	426.0					1																	152325257		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325257G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5005C>T	1.37:g.152325257G>A	ENSP00000373370:p.His1669Tyr					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1669Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5077	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1669					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5005C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.026998	0.19512	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.34	0.394	0.16299	.	.	.	.	.	T	0.02848	0.0085	M	0.62723	1.935	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.40117	-0.9580	9	0.59425	D	0.04	0.0196	4.348	0.11141	0.1119:0.0:0.4894:0.3987	.	1669	Q5D862	FILA2_HUMAN	Y	1669	ENSP00000373370:H1669Y	ENSP00000373370:H1669Y	H	-	1	0	FLG2	150591881	.	.	0.000000	0.03702	0.019000	0.09904	.	.	0.113000	0.18004	-0.388000	0.06559	CAT		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		127	213	0	0	0	1	0	127	213				
GPR143	4935	broad.mit.edu	37	X	9711662	9711662	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9711662C>A	ENST00000467482.1	-	6	856	c.710G>T	c.(709-711)aGg>aTg	p.R237M	GPR143_ENST00000380929.2_Missense_Mutation_p.R257M			P51810	GP143_HUMAN	G protein-coupled receptor 143	237	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GGCTCCCATCCTCCTCTCGTT	0.378																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(709-711)aGg>aTg		G protein-coupled receptor 143							165.0	142.0	150.0					X																	9711662		2203	4300	6503	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9711662C>A	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.710G>T	X.37:g.9711662C>A	ENSP00000417161:p.Arg237Met					GPR143_ENST00000380929.2_Missense_Mutation_p.R257M	p.R237M			P51810	GP143_HUMAN			6	856	-		Hepatocellular(5;0.000888)	237			Necessary for its G protein-activation ability and normal distribution of melanosomes.		Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.710G>T	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.02|17.02	3.283221|3.283221	0.59867|0.59867	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000447366|ENST00000467482;ENST00000380929;ENST00000431126	.|D;D;D	.|0.99150	.|-5.49;-5.49;-5.49	5.15|5.15	3.31|3.31	0.37934|0.37934	.|.	.|0.108055	.|0.64402	.|D	.|0.000006	D|D	0.98720|0.98720	0.9570|0.9570	M|M	0.69823|0.69823	2.125|2.125	0.42229|0.42229	D|D	0.991881|0.991881	.|D	.|0.67145	.|0.996	.|D	.|0.63033	.|0.91	D|D	0.98168|0.98168	1.0450|1.0450	5|10	.|0.62326	.|D	.|0.03	-0.4428|-0.4428	7.7759|7.7759	0.29037|0.29037	0.1664:0.744:0.0:0.0896|0.1664:0.744:0.0:0.0896	.|.	.|237	.|P51810	.|GP143_HUMAN	D|M	172|237;257;153	.|ENSP00000417161:R237M;ENSP00000370316:R257M;ENSP00000406138:R153M	.|ENSP00000370316:R257M	E|R	-|-	3|2	2|0	GPR143|GPR143	9671662|9671662	0.995000|0.995000	0.38212|0.38212	0.344000|0.344000	0.25628|0.25628	0.686000|0.686000	0.39977|0.39977	3.122000|3.122000	0.50446|0.50446	0.356000|0.356000	0.24157|0.24157	0.513000|0.513000	0.50165|0.50165	GAG|AGG		0.378	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		14	109	1	0	6.31663e-08	1	7.49729e-08	14	109				
ESYT1	23344	broad.mit.edu	37	12	56536911	56536911	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536911T>C	ENST00000394048.5	+	28	3362	c.3098T>C	c.(3097-3099)cTg>cCg	p.L1033P	ESYT1_ENST00000541590.1_Missense_Mutation_p.L1043P|ESYT1_ENST00000267113.4_Missense_Mutation_p.L1043P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1033	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGGACCCTGAGTCCTGAA	0.537																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(3097-3099)cTg>cCg		extended synaptotagmin-like protein 1							116.0	114.0	114.0					12																	56536911		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536911T>C	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.3098T>C	12.37:g.56536911T>C	ENSP00000377612:p.Leu1033Pro					ESYT1_ENST00000541590.1_Missense_Mutation_p.L1043P|ESYT1_ENST00000267113.4_Missense_Mutation_p.L1043P	p.L1033P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			28	3362	+			1033			C2 5.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.3098T>C	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527829	0.27299	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.11385	2.78;2.78;2.78	5.13	3.98	0.46160	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.154508	0.43416	D	0.000566	T	0.31638	0.0803	M	0.80982	2.52	0.80722	D	1	B;D	0.89917	0.016;1.0	B;D	0.91635	0.006;0.999	T	0.02805	-1.1108	10	0.72032	D	0.01	-11.4375	9.037	0.36293	0.0:0.0865:0.0:0.9135	.	1043;1033	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	P	1033;987;1043;1043	ENSP00000377612:L1033P;ENSP00000267113:L1043P;ENSP00000445952:L1043P	ENSP00000267113:L1043P	L	+	2	0	ESYT1	54823178	1.000000	0.71417	0.941000	0.38009	0.377000	0.30045	4.765000	0.62271	0.895000	0.36342	-0.411000	0.06167	CTG		0.537	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		29	40	0	0	0	1	0	29	40				
SETBP1	26040	broad.mit.edu	37	18	42532230	42532230	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42532230C>A	ENST00000282030.5	+	4	3221	c.2925C>A	c.(2923-2925)acC>acA	p.T975T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	975						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAGTTACACCTTCTACCACG	0.468									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2923-2925)acC>acA		SET binding protein 1							103.0	99.0	100.0					18																	42532230		2202	4300	6502	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532230C>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2925C>A	18.37:g.42532230C>A							p.T975T	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3221	+			975					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.2925C>A	CCDS11923.2																																																																																				0.468	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		34	55	1	0	4.31634e-10	1	5.29815e-10	34	55				
AMPD2	271	broad.mit.edu	37	1	110169414	110169414	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110169414T>C	ENST00000256578.3	+	6	1120	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	AMPD2_ENST00000528667.1_Missense_Mutation_p.Y254H|AMPD2_ENST00000528454.1_Missense_Mutation_p.Y136H|AMPD2_ENST00000393688.3_Missense_Mutation_p.Y135H|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.Y179H|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Missense_Mutation_p.Y173H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	254					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGGGAGAAGTACATGGCCCT	0.612																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(760-762)Tac>Cac		adenosine monophosphate deaminase 2							76.0	82.0	80.0					1																	110169414		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110169414T>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.760T>C	1.37:g.110169414T>C	ENSP00000256578:p.Tyr254His					AMPD2_ENST00000528667.1_Missense_Mutation_p.Y254H|AMPD2_ENST00000528454.1_Missense_Mutation_p.Y136H|AMPD2_ENST00000393688.3_Missense_Mutation_p.Y135H|AMPD2_ENST00000358729.4_Missense_Mutation_p.Y179H|AMPD2_ENST00000342115.4_Missense_Mutation_p.Y173H|AMPD2_ENST00000526301.1_3'UTR	p.Y254H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	6	1120	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	254					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.760T>C	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.5|28.5	4.926368|4.926368	0.92319|0.92319	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|T;T;T;T;T;T	.|0.72282	.|-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82213|0.82213	0.4988|0.4988	M|M	0.84948|0.84948	2.725|2.725	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.996;1.0;1.0;1.0	D|D	0.85837|0.85837	0.1395|0.1395	5|10	.|0.87932	.|D	.|0	-29.0787|-29.0787	14.1283|14.1283	0.65235|0.65235	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|179;135;254;173	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	A|H	224|173;254;254;179;136;135	.|ENSP00000345498:Y173H;ENSP00000436541:Y254H;ENSP00000256578:Y254H;ENSP00000351573:Y179H;ENSP00000437164:Y136H;ENSP00000377292:Y135H	.|ENSP00000256578:Y254H	V|Y	+|+	2|1	0|0	AMPD2|AMPD2	109970937|109970937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.945000|4.945000	0.63568|0.63568	1.993000|1.993000	0.58246|0.58246	0.379000|0.379000	0.24179|0.24179	GTA|TAC		0.612	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			22	74	0	0	0	1	0	22	74				
SETDB1	9869	broad.mit.edu	37	1	150935182	150935182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150935182A>G	ENST00000271640.5	+	18	3468	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1093R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1093	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCTGCTCAGTCCAACCCT	0.443																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3277-3279)cAg>cGg		SET domain, bifurcated 1							84.0	70.0	75.0					1																	150935182		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150935182A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3278A>G	1.37:g.150935182A>G	ENSP00000271640:p.Gln1093Arg					SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1093R	p.Q1093R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		18	3468	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1093			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3278A>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.402514	0.83230	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.87729	-2.29;-2.29;1.09	5.17	5.17	0.71159	SET domain (3);	0.396069	0.25994	N	0.026983	T	0.67998	0.2953	N	0.22421	0.69	0.80722	D	1	P;B;B	0.34587	0.458;0.11;0.134	B;B;B	0.32211	0.142;0.04;0.067	T	0.70110	-0.4962	10	0.22706	T	0.39	.	14.1259	0.65219	1.0:0.0:0.0:0.0	.	1093;1093;1093	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	R	1093	ENSP00000271640:Q1093R;ENSP00000357965:Q1093R;ENSP00000432348:Q1093R	ENSP00000271640:Q1093R	Q	+	2	0	SETDB1	149201806	0.984000	0.35163	0.952000	0.39060	0.950000	0.60333	3.393000	0.52544	2.181000	0.69327	0.459000	0.35465	CAG		0.443	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			3	62	0	0	0	1	0	3	62				
PLAC8L1	153770	broad.mit.edu	37	5	145464109	145464109	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145464109C>T	ENST00000311450.4	-	4	477	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	140										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGTGCACCGCCAGCCAGT	0.522																																						ENST00000311450.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10						c.(418-420)gcG>gcA		PLAC8-like 1							102.0	100.0	101.0					5																	145464109		2203	4300	6503	SO:0001819	synonymous_variant	153770							g.chr5:145464109C>T		CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.420G>A	5.37:g.145464109C>T							p.A140A	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	477	-			140						Silent	SNP	ENST00000311450.4	37	c.420G>A	CCDS34264.1																																																																																				0.522	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761		22	32	0	0	0	1	0	22	32				
ZNF606	80095	broad.mit.edu	37	19	58490723	58490723	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58490723G>T	ENST00000341164.4	-	7	1945	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	ZNF606_ENST00000536132.1_Missense_Mutation_p.A352D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCGTAAGGGCTGAGCGATT	0.363																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1324-1326)gCc>gAc		zinc finger protein 606							55.0	58.0	57.0					19																	58490723		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490723G>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1325C>A	19.37:g.58490723G>T	ENSP00000343617:p.Ala442Asp					ZNF606_ENST00000536132.1_Missense_Mutation_p.A352D	p.A442D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1945	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	442					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1325C>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432604	0.25813	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.07444	3.19;3.19;3.19	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.154150	0.30752	N	0.008941	T	0.04634	0.0126	N	0.11106	0.095	0.25962	N	0.982619	P	0.44521	0.837	B	0.40741	0.339	T	0.41395	-0.9511	10	0.12430	T	0.62	.	12.2955	0.54844	0.0:0.0:0.8298:0.1702	.	442	Q8WXB4	ZN606_HUMAN	D	442;352;442	ENSP00000343617:A442D;ENSP00000445624:A352D;ENSP00000446972:A442D	ENSP00000343617:A442D	A	-	2	0	ZNF606	63182535	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	-0.461000	0.06712	2.515000	0.84797	0.655000	0.94253	GCC		0.363	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		11	27	1	0	3.07112e-06	1	3.52574e-06	11	27				
CRIP1	1396	broad.mit.edu	37	14	105954546	105954546	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105954546C>T	ENST00000330233.7	+	2	1027	c.84C>T	c.(82-84)tgC>tgT	p.C28C	CRIP1_ENST00000392531.3_Silent_p.C28C|C14orf80_ENST00000392527.1_5'Flank|CRIP1_ENST00000409393.2_Silent_p.C28C|C14orf80_ENST00000329886.7_5'Flank|CRIP1_ENST00000551180.1_5'Flank|C14orf80_ENST00000334656.7_5'Flank			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	28	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		ATCGGCCCTGCCTGAAGTGCG	0.687																																						ENST00000330233.7																			0											c.(82-84)tgC>tgT		cysteine-rich protein 1 (intestinal)							54.0	59.0	57.0					14																	105954546		2202	4300	6502	SO:0001819	synonymous_variant	1396				cell proliferation	cytoplasm	zinc ion binding	g.chr14:105954546C>T		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.84C>T	14.37:g.105954546C>T						CRIP1_ENST00000392531.3_Silent_p.C28C|CRIP1_ENST00000409393.2_Silent_p.C28C	p.C28C			P50238	CRIP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	2	1027	+		Melanoma(154;0.226)	28			LIM zinc-binding.		H3BPI2|Q13628|Q53XY7|Q96J34	Silent	SNP	ENST00000330233.7	37	c.84C>T	CCDS10004.1																																																																																				0.687	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311		6	57	0	0	0	1	0	6	57				
PKD1L1	168507	broad.mit.edu	37	7	47847887	47847887	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47847887G>A	ENST00000289672.2	-	52	7835	c.7785C>T	c.(7783-7785)tgC>tgT	p.C2595C	PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2595					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAAATGCTCGGCAAAGTCCTC	0.517																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(7783-7785)tgC>tgT		polycystic kidney disease 1 like 1							157.0	130.0	139.0					7																	47847887		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47847887G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7785C>T	7.37:g.47847887G>A						C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	p.C2595C	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			52	7835	-			2595					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.7785C>T	CCDS34633.1																																																																																				0.517	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		5	58	0	0	0	1	0	5	58				
OXER1	165140	broad.mit.edu	37	2	42991053	42991053	+	Silent	SNP	C	C	T	rs143056921	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42991053C>T	ENST00000378661.2	-	1	348	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	89	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CAGACACCAGCGAGGAAGAGG	0.632													.|||	6	0.00119808	0.0	0.0	5008	,	,		18623	0.006		0.0	False		,,,				2504	0.0					ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(265-267)tcG>tcA		oxoeicosanoid (OXE) receptor 1							38.0	43.0	41.0					2																	42991053		2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991053C>T	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.267G>A	2.37:g.42991053C>T							p.S89S	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	348	-			89			Ser-rich.		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.267G>A	CCDS1810.1																																																																																				0.632	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		15	19	0	0	0	1	0	15	19				
FUT2	2524	broad.mit.edu	37	19	49206500	49206500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206500C>T	ENST00000425340.2	+	2	404	c.287C>T	c.(286-288)cCg>cTg	p.P96L	FUT2_ENST00000391876.4_Missense_Mutation_p.P96L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	96					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCTTCATCCCGGCCCAGATG	0.642																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(286-288)cCg>cTg		fucosyltransferase 2 (secretor status included)							25.0	26.0	25.0					19																	49206500		2203	4298	6501	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206500C>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.287C>T	19.37:g.49206500C>T	ENSP00000387498:p.Pro96Leu					FUT2_ENST00000391876.4_Missense_Mutation_p.P96L	p.P96L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	404	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	96					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.287C>T	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	C	0.794	-0.757939	0.03019	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.97303	-4.33;-4.33;-4.33	4.19	1.99	0.26369	.	.	.	.	.	D	0.93380	0.7889	L	0.58510	1.815	0.09310	N	0.999998	B	0.24882	0.113	B	0.21360	0.034	T	0.82557	-0.0398	9	0.07175	T	0.84	.	6.7362	0.23411	0.0:0.6843:0.0:0.3157	.	96	Q10981	FUT2_HUMAN	L	96	ENSP00000430227:P96L;ENSP00000387498:P96L;ENSP00000375748:P96L	ENSP00000375748:P96L	P	+	2	0	FUT2	53898312	0.002000	0.14202	0.319000	0.25293	0.004000	0.04260	-0.055000	0.11807	0.876000	0.35872	-0.275000	0.10095	CCG		0.642	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		12	15	0	0	0	1	0	12	15				
YWHAQ	10971	broad.mit.edu	37	2	9770415	9770415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9770415C>A	ENST00000381844.4	-	1	330	c.167G>T	c.(166-168)aGg>aTg	p.R56M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.R56M			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	56		Interaction with phosphoserine on interacting protein.			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)		CCAGGCGGACCTGCGGCCCCC	0.612																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(166-168)aGg>aTg		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide							56.0	58.0	58.0					2																	9770415		2203	4300	6503	SO:0001583	missense	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9770415C>A	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.167G>T	2.37:g.9770415C>A	ENSP00000371267:p.Arg56Met					YWHAQ_ENST00000238081.3_Missense_Mutation_p.R56M	p.R56M			P27348	1433T_HUMAN		Epithelial(75;0.241)	1	330	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		56				Interaction with phosphoserine on interacting protein.	D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	c.167G>T	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110228	0.94292	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	T;T;T	0.76448	-1.02;-1.02;-1.02	5.23	5.23	0.72850	14-3-3 domain (4);	0.076363	0.47852	D	0.000205	D	0.92925	0.7749	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95533	0.8605	10	0.87932	D	0	.	18.7935	0.91983	0.0:1.0:0.0:0.0	.	56	P27348	1433T_HUMAN	M	56;56;21;56	ENSP00000238081:R56M;ENSP00000371267:R56M;ENSP00000398990:R56M	ENSP00000238081:R56M	R	-	2	0	YWHAQ	9687866	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	7.564000	0.82326	2.438000	0.82558	0.491000	0.48974	AGG		0.612	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826		4	33	1	0	0.00116845	1	0.00124821	4	33				
ECT2	1894	broad.mit.edu	37	3	172525559	172525559	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172525559G>A	ENST00000392692.3	+	22	2421		c.e22-1		ECT2_ENST00000417960.1_Splice_Site|ECT2_ENST00000441497.2_Splice_Site|ECT2_ENST00000232458.5_Splice_Site|ECT2_ENST00000427830.1_Splice_Site|ECT2_ENST00000540509.1_Splice_Site	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2						activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGGAACCCTAGATTGCCATAA	0.398																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.e22-1		epithelial cell transforming sequence 2 oncogene							129.0	120.0	123.0					3																	172525559		2203	4300	6503	SO:0001630	splice_region_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172525559G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2246-1G>A	3.37:g.172525559G>A						ECT2_ENST00000441497.2_Splice_Site|ECT2_ENST00000392692.3_Splice_Site|ECT2_ENST00000232458.5_Splice_Site|ECT2_ENST00000540509.1_Splice_Site|ECT2_ENST00000427830.1_Splice_Site		NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		22	2626	+	Ovarian(172;0.00197)|Breast(254;0.158)							Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Splice_Site	SNP	ENST00000392692.3	37		CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338803	0.81911	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509;ENST00000437296	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.066	0.97704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ECT2	174008253	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.081000	0.94049	2.730000	0.93505	0.650000	0.86243	.		0.398	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	Intron	25	55	0	0	0	1	0	25	55				
HSPA1L	3305	broad.mit.edu	37	6	31778007	31778007	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778007C>T	ENST00000375654.4	-	2	1932	c.1743G>A	c.(1741-1743)tcG>tcA	p.S581S	HSPA1L_ENST00000417199.3_Silent_p.S581S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	581					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCCAGCCACGAAAGGAGCT	0.388																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1741-1743)tcG>tcA		heat shock 70kDa protein 1-like							111.0	108.0	109.0					6																	31778007		2203	4300	6503	SO:0001819	synonymous_variant	0				response to unfolded protein		ATP binding	g.chr6:31778007C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1743G>A	6.37:g.31778007C>T						HSPA1L_ENST00000417199.3_Silent_p.S581S	p.S581S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1932	-			581					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.1743G>A	CCDS34413.1																																																																																				0.388	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			42	63	0	0	0	1	0	42	63				
CFAP43	80217	broad.mit.edu	37	10	105942209	105942209	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105942209A>G	ENST00000278064.2	-	17	2322	c.1997T>C	c.(1996-1998)cTg>cCg	p.L666P	WDR96_ENST00000357060.3_Missense_Mutation_p.L735P|WDR96_ENST00000428666.1_Missense_Mutation_p.L736P																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCGCTGCTCAGGGAAATTAA	0.378																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2203-2205)cTg>cCg		WD repeat domain 96							155.0	141.0	146.0					10																	105942209		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105942209A>G																												ENST00000278064.2:c.1997T>C	10.37:g.105942209A>G	ENSP00000278064:p.Leu666Pro					WDR96_ENST00000278064.2_Missense_Mutation_p.L666P|WDR96_ENST00000428666.1_Missense_Mutation_p.L736P	p.L735P	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			17	2319	-			735						Missense_Mutation	SNP	ENST00000278064.2	37	c.2204T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.26|15.26	2.780502|2.780502	0.49891|0.49891	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.20881|.	2.16;2.14;2.04|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.105272|.	0.39759|.	N|.	0.001268|.	T|.	0.64472|.	0.2601|.	M|M	0.63843|0.63843	1.955|1.955	0.49915|0.49915	D|D	0.999839|0.999839	P;P;P|.	0.48350|.	0.462;0.765;0.909|.	B;B;B|.	0.44315|.	0.214;0.346;0.446|.	T|.	0.64158|.	-0.6473|.	10|.	0.46703|.	T|.	0.11|.	.|.	11.2742|11.2742	0.49157|0.49157	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	736;736;735|.	G5E9L1;B4DHB6;Q8NDM7|.	.;.;WDR96_HUMAN|.	P|R	735;736;666|96	ENSP00000349568:L735P;ENSP00000400289:L736P;ENSP00000278064:L666P|.	ENSP00000278064:L666P|.	L|X	-|-	2|1	0|0	WDR96|WDR96	105932199|105932199	0.339000|0.339000	0.24784|0.24784	0.114000|0.114000	0.21550|0.21550	0.005000|0.005000	0.04900|0.04900	4.110000|4.110000	0.57831|0.57831	1.985000|1.985000	0.57927|0.57927	0.455000|0.455000	0.32223|0.32223	CTG|TGA		0.378	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			5	110	0	0	0	1	0	5	110				
SPRED1	161742	broad.mit.edu	37	15	38591666	38591666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38591666T>C	ENST00000299084.4	+	2	985	c.125T>C	c.(124-126)gTc>gCc	p.V42A	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	42	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTAAGCAGCGTCACTGTCTTC	0.458									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4																			0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(124-126)gTc>gCc		sprouty-related, EVH1 domain containing 1							130.0	113.0	119.0					15																	38591666		2200	4297	6497	SO:0001583	missense	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38591666T>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.125T>C	15.37:g.38591666T>C	ENSP00000299084:p.Val42Ala					SPRED1_ENST00000561205.1_3'UTR	p.V42A	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	985	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	42			WH1.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.125T>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.955992	0.92726	.	.	ENSG00000166068	ENST00000299084	D	0.99239	-5.61	5.72	5.72	0.89469	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98609	1.0662	10	0.72032	D	0.01	-25.2269	16.0091	0.80385	0.0:0.0:0.0:1.0	.	42	Q7Z699	SPRE1_HUMAN	A	42	ENSP00000299084:V42A	ENSP00000299084:V42A	V	+	2	0	SPRED1	36378958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.187000	0.69744	0.533000	0.62120	GTC		0.458	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			19	31	0	0	0	1	0	19	31				
BAI2	576	broad.mit.edu	37	1	32203081	32203081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32203081G>A	ENST00000373658.3	-	20	3269	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	BAI2_ENST00000398556.3_Silent_p.I924I|BAI2_ENST00000373655.2_Silent_p.I976I|BAI2_ENST00000440175.2_Silent_p.I618I|BAI2_ENST00000257070.4_Silent_p.I976I|BAI2_ENST00000527361.1_Silent_p.I976I|BAI2_ENST00000398538.1_Silent_p.I964I|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398547.1_Silent_p.I909I|BAI2_ENST00000398542.1_Silent_p.I909I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	976					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGATGCCAAGATGGACAGGC	0.617																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2926-2928)atC>atT		brain-specific angiogenesis inhibitor 2							134.0	119.0	125.0					1																	32203081		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32203081G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2928C>T	1.37:g.32203081G>A						BAI2_ENST00000373655.2_Silent_p.I976I|BAI2_ENST00000398542.1_Silent_p.I909I|BAI2_ENST00000257070.4_Silent_p.I976I|BAI2_ENST00000398547.1_Silent_p.I909I|BAI2_ENST00000398556.3_Silent_p.I924I|BAI2_ENST00000398538.1_Silent_p.I964I|BAI2_ENST00000440175.2_Silent_p.I618I|BAI2_ENST00000527361.1_Silent_p.I976I	p.I976I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	20	3269	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	976					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2928C>T	CCDS346.2																																																																																				0.617	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		19	37	0	0	0	1	0	19	37				
FAM13C	220965	broad.mit.edu	37	10	61029813	61029813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61029813G>T	ENST00000373868.2	-	7	736	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	FAM13C_ENST00000277705.6_Missense_Mutation_p.L238I|FAM13C_ENST00000373867.3_Missense_Mutation_p.L134I|FAM13C_ENST00000468840.2_Missense_Mutation_p.L134I|FAM13C_ENST00000442566.3_Missense_Mutation_p.L238I|FAM13C_ENST00000435852.2_Missense_Mutation_p.L217I|FAM13C_ENST00000422313.2_Missense_Mutation_p.L217I|FAM13C_ENST00000419214.2_Missense_Mutation_p.L217I	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	217										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGAGTGGAGGTCTTCTGGT	0.527																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(400-402)Ctc>Atc		family with sequence similarity 13, member C							108.0	97.0	101.0					10																	61029813		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61029813G>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.649C>A	10.37:g.61029813G>T	ENSP00000362975:p.Leu217Ile					FAM13C_ENST00000442566.3_Missense_Mutation_p.L238I|FAM13C_ENST00000435852.2_Missense_Mutation_p.L217I|FAM13C_ENST00000419214.2_Missense_Mutation_p.L217I|FAM13C_ENST00000422313.2_Missense_Mutation_p.L217I|FAM13C_ENST00000277705.6_Missense_Mutation_p.L238I|FAM13C_ENST00000468840.2_Missense_Mutation_p.L134I|FAM13C_ENST00000373868.2_Missense_Mutation_p.L217I	p.L134I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			8	865	-			217					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.400C>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034462	0.54896	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;0.76;-1.08;-1.08;-1.08	5.53	4.62	0.57501	.	0.577261	0.16319	N	0.219623	T	0.78735	0.4330	M	0.73962	2.25	0.31729	N	0.6373	B;B;B;B;B	0.27229	0.087;0.015;0.172;0.161;0.036	B;B;B;B;B	0.29716	0.077;0.02;0.106;0.079;0.048	T	0.77943	-0.2398	10	0.33141	T	0.24	-0.0507	15.7277	0.77774	0.0:0.0:0.8621:0.1379	.	217;134;217;217;217	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	I	134;217;238;238;217;134;217;217	ENSP00000362974:L134I;ENSP00000362975:L217I;ENSP00000395661:L238I;ENSP00000277705:L238I;ENSP00000391993:L217I;ENSP00000423896:L134I;ENSP00000392302:L217I;ENSP00000400241:L217I	ENSP00000277705:L238I	L	-	1	0	FAM13C	60699819	0.999000	0.42202	0.997000	0.53966	0.924000	0.55760	2.337000	0.43947	1.318000	0.45170	0.655000	0.94253	CTC		0.527	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			5	36	1	0	0.00116845	1	0.00124821	5	36				
CEP350	9857	broad.mit.edu	37	1	180063428	180063428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180063428C>A	ENST00000367607.3	+	34	8606	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2730					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAAACCAACTGGAAGCCCA	0.373																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(8188-8190)Ctg>Atg		centrosomal protein 350kDa							36.0	37.0	36.0					1																	180063428		2201	4299	6500	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180063428C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8188C>A	1.37:g.180063428C>A	ENSP00000356579:p.Leu2730Met					CEP350_ENST00000490141.1_3'UTR	p.L2730M	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	8606	+			2730					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.8188C>A	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.05|11.05	1.525918|1.525918	0.27299|0.27299	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.62105|.	0.05|.	5.73|5.73	-2.79|-2.79	0.05841|0.05841	.|.	0.000000|.	0.38720|.	N|.	0.001587|.	T|T	0.48021|0.48021	0.1477|0.1477	M|M	0.68317|0.68317	2.08|2.08	0.23607|0.23607	N|N	0.997301|0.997301	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.85130|.	0.996;0.997|.	T|T	0.49916|0.49916	-0.8888|-0.8888	9|5	.|.	.|.	.|.	.|.	7.8252|7.8252	0.29311|0.29311	0.1201:0.4833:0.0:0.3965|0.1201:0.4833:0.0:0.3965	.|.	2730;2730|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	M|N	2730;194|904	ENSP00000356579:L2730M|.	.|.	L|T	+|+	1|2	2|0	CEP350|CEP350	178330051|178330051	0.255000|0.255000	0.24002|0.24002	0.115000|0.115000	0.21578|0.21578	0.509000|0.509000	0.34042|0.34042	0.420000|0.420000	0.21263|0.21263	-0.513000|-0.513000	0.06496|0.06496	-0.218000|-0.218000	0.12543|0.12543	CTG|ACT		0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		11	29	1	0	6.40141e-05	1	7.11719e-05	11	29				
THADA	63892	broad.mit.edu	37	2	43458140	43458140	+	Missense_Mutation	SNP	A	A	C	rs370796162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43458140A>C	ENST00000405006.4	-	38	6160	c.5809T>G	c.(5809-5811)Tct>Gct	p.S1937A	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000405975.2_Missense_Mutation_p.S1937A|THADA_ENST00000415080.2_Missense_Mutation_p.S1618A|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1937										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTGCATAAGAGTCCCAAACA	0.483																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(5809-5811)Tct>Gct		thyroid adenoma associated		A	ALA/SER,ALA/SER	3,3819		0,3,1908	70.0	68.0	69.0		5809,5809	1.7	0.0	2		69	0,8258		0,0,4129	no	missense,missense	THADA	NM_001083953.1,NM_022065.4	99,99	0,3,6037	CC,CA,AA		0.0,0.0785,0.0248	benign,benign	1937/1954,1937/1954	43458140	3,12077	1911	4129	6040	SO:0001583	missense	63892						binding	g.chr2:43458140A>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5809T>G	2.37:g.43458140A>C	ENSP00000385995:p.Ser1937Ala					THADA_ENST00000415080.2_Missense_Mutation_p.S1618A|THADA_ENST00000405975.2_Missense_Mutation_p.S1937A|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron	p.S1937A	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			38	6160	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1937					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.5809T>G	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	3.370	-0.128549	0.06753	7.85E-4	0.0	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.11385	2.97;2.78;2.97	4.15	1.7	0.24286	.	0.348642	0.21930	N	0.067035	T	0.07818	0.0196	L	0.57536	1.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46162	-0.9211	10	0.02654	T	1	.	4.3824	0.11300	0.4104:0.1841:0.0:0.4055	.	1864;1937	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	A	1937;1864;1618;1937	ENSP00000386088:S1937A;ENSP00000416048:S1618A;ENSP00000385995:S1937A	ENSP00000349464:S1864A	S	-	1	0	THADA	43311644	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.087000	0.11215	0.155000	0.19261	-0.333000	0.08304	TCT		0.483	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		4	31	0	0	0	1	0	4	31				
SUSD4	55061	broad.mit.edu	37	1	223441962	223441962	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223441962A>G	ENST00000343846.3	-	3	1050	c.417T>C	c.(415-417)caT>caC	p.H139H	SUSD4_ENST00000484758.2_Silent_p.H68H|SUSD4_ENST00000366878.4_Silent_p.H139H|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.H139H|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.H139H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	139	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCTTCTCTCCATGTCTATATG	0.378																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(415-417)caT>caC		sushi domain containing 4							214.0	181.0	192.0					1																	223441962		2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223441962A>G	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.417T>C	1.37:g.223441962A>G						SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.H139H|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Silent_p.H139H	p.H139H			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	3	1050	-			139			Sushi 2.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.417T>C	CCDS41471.1																																																																																				0.378	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		10	104	0	0	0	1	0	10	104				
CLIP4	79745	broad.mit.edu	37	2	29386732	29386732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29386732G>T	ENST00000320081.5	+	13	1825	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	CLIP4_ENST00000401617.2_Missense_Mutation_p.G417C|CLIP4_ENST00000404424.1_Missense_Mutation_p.G524C|CLIP4_ENST00000401605.1_Missense_Mutation_p.G524C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	524	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAAACCCCATGGCAAGAATGA	0.393																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(1570-1572)Ggc>Tgc		CAP-GLY domain containing linker protein family, member 4							146.0	138.0	141.0					2																	29386732		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29386732G>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1570G>T	2.37:g.29386732G>T	ENSP00000327009:p.Gly524Cys					CLIP4_ENST00000401605.1_Missense_Mutation_p.G524C|CLIP4_ENST00000401617.2_Missense_Mutation_p.G417C|CLIP4_ENST00000404424.1_Missense_Mutation_p.G524C	p.G524C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			13	1825	+	Acute lymphoblastic leukemia(172;0.155)		524			CAP-Gly 2.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1570G>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396838	0.83120	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	6.06	6.06	0.98353	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98539	1.0631	10	0.87932	D	0	.	19.4112	0.94673	0.0:0.0:1.0:0.0	.	524	Q8N3C7	CLIP4_HUMAN	C	524;417;524;526;524;542;484	ENSP00000384242:G524C;ENSP00000385148:G417C;ENSP00000385594:G524C;ENSP00000327009:G524C	ENSP00000327009:G524C	G	+	1	0	CLIP4	29240236	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	8.529000	0.90602	2.880000	0.98712	0.650000	0.86243	GGC		0.393	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		33	67	1	0	4.65686e-17	1	6.02554e-17	33	67				
WDR6	11180	broad.mit.edu	37	3	49049221	49049221	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49049221C>A	ENST00000608424.1	+	2	293	c.254C>A	c.(253-255)gCt>gAt	p.A85D	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A34D|WDR6_ENST00000395474.3_Missense_Mutation_p.A115D|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	85					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCCATGGTGGCTGTGTTTGGA	0.547																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(343-345)gCt>gAt		WD repeat domain 6							163.0	164.0	164.0					3																	49049221		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049221C>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.254C>A	3.37:g.49049221C>A	ENSP00000477389:p.Ala85Asp					WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A34D|WDR6_ENST00000489684.1_Intron	p.A115D	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	624	+			85					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.344C>A		.	.	.	.	.	.	.	.	.	.	C	15.35	2.807324	0.50421	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293;ENST00000419837	T;T;T;T	0.77489	-0.98;-1.1;-1.1;-1.1	5.43	4.54	0.55810	.	0.175003	0.49305	D	0.000160	T	0.82245	0.4995	L	0.53249	1.67	0.38406	D	0.945797	P;P	0.52577	0.954;0.954	P;P	0.55785	0.784;0.454	D	0.85242	0.1039	10	0.66056	D	0.02	-10.6686	14.9566	0.71120	0.0:0.856:0.144:0.0	.	85;34	Q9NNW5;E9PDU5	WDR6_HUMAN;.	D	115;117;85;34;59	ENSP00000378857:A115D;ENSP00000387692:A117D;ENSP00000413432:A34D;ENSP00000390740:A59D	ENSP00000346247:A85D	A	+	2	0	WDR6	49024225	0.998000	0.40836	0.966000	0.40874	0.970000	0.65996	3.887000	0.56197	1.243000	0.43853	0.561000	0.74099	GCT		0.547	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			19	169	1	0	5.49717e-05	1	6.12394e-05	19	169				
EPPK1	83481	broad.mit.edu	37	8	144947316	144947316	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947316G>T	ENST00000525985.1	-	2	177	c.106C>A	c.(106-108)Ccc>Acc	p.P36T				P58107	EPIPL_HUMAN	epiplakin 1	36						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGCCTGGGGGGCGTGCCG	0.692																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(106-108)Ccc>Acc		epiplakin 1							20.0	28.0	25.0					8																	144947316		2100	4215	6315	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947316G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.106C>A	8.37:g.144947316G>T	ENSP00000436337:p.Pro36Thr						p.P36T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	177	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		36					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.106C>A		.	.	.	.	.	.	.	.	.	.	G	2.671	-0.277606	0.05679	.	.	ENSG00000227184	ENST00000525985	T	0.65732	-0.17	2.55	0.189	0.15119	.	.	.	.	.	T	0.34019	0.0883	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.18461	-1.0336	9	0.16420	T	0.52	.	5.5041	0.16844	0.5228:0.0:0.4772:0.0	.	36	E9PPU0	.	T	36	ENSP00000436337:P36T	ENSP00000436337:P36T	P	-	1	0	EPPK1	145019304	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.291000	0.02775	0.035000	0.15519	-0.481000	0.04817	CCC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		16	23	1	0	2.39187e-15	1	3.06793e-15	16	23				
OGDH	4967	broad.mit.edu	37	7	44746903	44746903	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44746903C>T	ENST00000222673.5	+	21	2754	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	OGDH_ENST00000543843.1_Silent_p.C855C|OGDH_ENST00000449767.1_Silent_p.C900C|OGDH_ENST00000444676.1_Silent_p.C919C|OGDH_ENST00000439616.2_Silent_p.C754C|OGDH_ENST00000447398.1_Silent_p.C915C	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	904					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TTCTCTTCTGCACCGGCAAAG	0.567																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2710-2712)tgC>tgT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						70.0	62.0	65.0					7																	44746903		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44746903C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2712C>T	7.37:g.44746903C>T						OGDH_ENST00000449767.1_Silent_p.C900C|OGDH_ENST00000439616.2_Silent_p.C754C|OGDH_ENST00000444676.1_Silent_p.C919C|OGDH_ENST00000447398.1_Silent_p.C915C|OGDH_ENST00000543843.1_Silent_p.C855C	p.C904C	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			21	2754	+			904					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2712C>T	CCDS34627.1																																																																																				0.567	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			29	30	0	0	0	1	0	29	30				
MYO7A	4647	broad.mit.edu	37	11	76912592	76912592	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76912592G>T	ENST00000409709.3	+	36	5224	c.4952G>T	c.(4951-4953)gGc>gTc	p.G1651V	MYO7A_ENST00000409619.2_Missense_Mutation_p.G1602V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1613V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1651	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGGCCAACGGCATCAATGAG	0.607																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4951-4953)gGc>gTc		myosin VIIA							75.0	82.0	80.0					11																	76912592		2167	4243	6410	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912592G>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4952G>T	11.37:g.76912592G>T	ENSP00000386331:p.Gly1651Val					MYO7A_ENST00000409619.2_Missense_Mutation_p.G1602V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1613V	p.G1651V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5224	+			1651			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4952G>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135634	0.77662	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	4.58	4.58	0.56647	Src homology-3 domain (3);	0.106980	0.64402	D	0.000005	D	0.95223	0.8451	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.994;1.0	D	0.96543	0.9402	10	0.87932	D	0	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	1602;1613;1651	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	V	1651;1613;1602;824;1650;1620;1527;793;266	ENSP00000386331:G1651V;ENSP00000392185:G1613V;ENSP00000386635:G1602V;ENSP00000417017:G793V	ENSP00000345075:G1527V	G	+	2	0	MYO7A	76590240	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.222000	0.95196	2.375000	0.81037	0.561000	0.74099	GGC		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		13	20	1	0	5.01169e-05	1	5.58345e-05	13	20				
CAB39	51719	broad.mit.edu	37	2	231683256	231683256	+	Missense_Mutation	SNP	C	C	T	rs575964287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231683256C>T	ENST00000258418.5	+	9	1292	c.863C>T	c.(862-864)aCg>aTg	p.T288M	CAB39_ENST00000410084.3_Missense_Mutation_p.T288M|CAB39_ENST00000409788.3_Missense_Mutation_p.T288M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	288					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CCTAACAAGACGCAGCCCATC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19454	0.0		0.001	False		,,,				2504	0.0					ENST00000258418.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(862-864)aCg>aTg		calcium binding protein 39							101.0	78.0	86.0					2																	231683256		2203	4300	6503	SO:0001583	missense	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231683256C>T	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.863C>T	2.37:g.231683256C>T	ENSP00000258418:p.Thr288Met					CAB39_ENST00000409788.3_Missense_Mutation_p.T288M|CAB39_ENST00000410084.3_Missense_Mutation_p.T288M	p.T288M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	9	1292	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	288					A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	37	c.863C>T	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734921	0.89482	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.32272	1.46;1.46;1.46	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	P	0.61477	0.889	T	0.61392	-0.7072	10	0.87932	D	0	.	17.0642	0.86555	0.0:1.0:0.0:0.0	.	288	Q9Y376	CAB39_HUMAN	M	288	ENSP00000258418:T288M;ENSP00000386238:T288M;ENSP00000386642:T288M	ENSP00000258418:T288M	T	+	2	0	CAB39	231391500	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.783000	0.85696	2.622000	0.88805	0.655000	0.94253	ACG		0.527	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		12	30	0	0	0	1	0	12	30				
TAF1	6872	broad.mit.edu	37	X	70627449	70627449	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627449G>A	ENST00000373790.4	+	27	4181	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	TAF1_ENST00000423759.1_Missense_Mutation_p.R1398H|TAF1_ENST00000449580.1_Missense_Mutation_p.R1377H|TAF1_ENST00000276072.3_Missense_Mutation_p.R1398H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1377	Interaction with ASF1A and ASF1B.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATCCACCGGCGCCGCACAGAC	0.448																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4129-4131)cGc>cAc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							105.0	94.0	98.0					X																	70627449		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70627449G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4130G>A	X.37:g.70627449G>A	ENSP00000362895:p.Arg1377His					TAF1_ENST00000276072.3_Missense_Mutation_p.R1398H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1377H|TAF1_ENST00000423759.1_Missense_Mutation_p.R1398H	p.R1377H			P21675	TAF1_HUMAN			27	4181	+	Renal(35;0.156)	all_lung(315;0.000321)	1377			Interaction with ASF1A and ASF1B.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4130G>A	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.1|25.1	4.602829|4.602829	0.87157|0.87157	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000463163;ENST00000437147|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.20463	.|2.07;2.07;2.07;2.07	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Bromodomain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42381|0.42381	0.1200|0.1200	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|B;D;P	.|0.67145	.|0.432;0.996;0.707	.|B;P;B	.|0.59487	.|0.217;0.858;0.223	T|T	0.40117|0.40117	-0.9580|-0.9580	5|10	.|0.72032	.|D	.|0.01	.|.	17.4533|17.4533	0.87599|0.87599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1377;1377;1398	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	T|H	43;32|1377;1377;1398;83;83;1398	.|ENSP00000362895:R1377H;ENSP00000389000:R1377H;ENSP00000406549:R1398H;ENSP00000276072:R1398H	.|ENSP00000276072:R1398H	A|R	+|+	1|2	0|0	TAF1|TAF1	70544174|70544174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	9.259000|9.259000	0.95561|0.95561	2.305000|2.305000	0.77605|0.77605	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.448	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		23	39	0	0	0	1	0	23	39				
NKRF	55922	broad.mit.edu	37	X	118723315	118723315	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118723315T>A	ENST00000371527.1	-	2	2725	c.2073A>T	c.(2071-2073)tgA>tgT	p.*691C	NKRF_ENST00000304449.5_Nonstop_Mutation_p.*691C|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Nonstop_Mutation_p.*706C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	0					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAGTAAGATCTCAATTTGCTT	0.383																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(2071-2073)tgA>tgT		NFKB repressing factor							69.0	59.0	62.0					X																	118723315		2203	4300	6503	SO:0001578	stop_lost	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723315T>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.2073A>T	X.37:g.118723315T>A						NKRF_ENST00000304449.5_Nonstop_Mutation_p.*691C|NKRF_ENST00000542113.1_Nonstop_Mutation_p.*706C|NKRF_ENST00000487600.1_Intron	p.*691C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2725	-			0					G3V1N1|Q4VC41|Q9UJ91	Nonstop_Mutation	SNP	ENST00000371527.1	37	c.2073A>T	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	5.237	0.229163	0.09916	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1997	0.65693	0.0:0.0:0.0:1.0	.	.	.	.	C	691;691;706	.	.	X	-	3	0	NKRF	118607343	.	.	0.786000	0.31890	0.322000	0.28314	.	.	1.952000	0.56665	0.481000	0.45027	TGA		0.383	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		12	51	0	0	0	1	0	12	51				
HNRNPA1L2	144983	broad.mit.edu	37	13	53216587	53216587	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53216587G>A	ENST00000357495.2	+	0	20				HNRNPA1L2_ENST00000342657.3_De_novo_Start_OutOfFrame|HNRNPA1L2_ENST00000398039.1_De_novo_Start_OutOfFrame			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2						alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						CGTGGACGCCGCTGAAGAAGC	0.468																																						ENST00000342657.3																			0				cervix(1)|large_intestine(1)|lung(5)	7								heterogeneous nuclear ribonucleoprotein A1-like 2							96.0	100.0	99.0					13																	53216587		2203	4300	6503			144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53216587G>A		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.-41G>A	13.37:g.53216587G>A						HNRNPA1L2_ENST00000398039.1_De_novo_Start_OutOfFrame|HNRNPA1L2_ENST00000357495.2_De_novo_Start_OutOfFrame		NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN			0	1033	+								Q5TBS2	Translation_Start_Site	SNP	ENST00000357495.2	37		CCDS31980.1																																																																																				0.468	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		14	132	0	0	0	1	0	14	132				
NPC1	4864	broad.mit.edu	37	18	21116710	21116710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21116710C>T	ENST00000269228.5	-	21	3726	c.3172G>A	c.(3172-3174)Gcc>Acc	p.A1058T	NPC1_ENST00000540608.1_5'Flank|NPC1_ENST00000412552.2_Missense_Mutation_p.A740T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1058					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATAAGTCGGGCTTTCTTCAGA	0.522																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3172-3174)Gcc>Acc		Niemann-Pick disease, type C1							108.0	93.0	98.0					18																	21116710		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21116710C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3172G>A	18.37:g.21116710C>T	ENSP00000269228:p.Ala1058Thr					NPC1_ENST00000412552.2_Missense_Mutation_p.A740T	p.A1058T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			21	3726	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		1058					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.3172G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498218	0.96355	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.85339	-1.97;-1.97	5.93	5.93	0.95920	.	0.049034	0.85682	D	0.000000	D	0.92961	0.7760	M	0.79926	2.475	0.80722	D	1	D;D	0.71674	0.998;0.989	D;D	0.70016	0.967;0.919	D	0.92974	0.6400	10	0.87932	D	0	-31.1403	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1069;1058	Q59GR1;O15118	.;NPC1_HUMAN	T	1058;740	ENSP00000269228:A1058T;ENSP00000408606:A740T	ENSP00000269228:A1058T	A	-	1	0	NPC1	19370708	1.000000	0.71417	0.981000	0.43875	0.598000	0.36846	7.813000	0.86123	2.815000	0.96918	0.561000	0.74099	GCC		0.522	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		11	27	0	0	0	1	0	11	27				
MDC1	9656	broad.mit.edu	37	6	30675488	30675488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30675488C>A	ENST00000376406.3	-	8	3515	c.2868G>T	c.(2866-2868)caG>caT	p.Q956H	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	956				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTTCTGGTCCTGGCTCCCTC	0.622								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(2866-2868)caG>caT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							73.0	80.0	78.0					6																	30675488		1509	2709	4218	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30675488C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2868G>T	6.37:g.30675488C>A	ENSP00000365588:p.Gln956His					MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	p.Q956H	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			8	3515	-			956	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.2868G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.792831	0.31685	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02579	4.24	4.39	0.914	0.19360	.	.	.	.	.	T	0.00695	0.0023	N	0.17082	0.46	0.22280	N	0.999238	P	0.44578	0.838	B	0.41691	0.364	T	0.49744	-0.8907	9	0.28530	T	0.3	-0.2985	5.7284	0.18026	0.3622:0.5294:0.0:0.1084	.	956	Q14676	MDC1_HUMAN	H	956	ENSP00000365588:Q956H	ENSP00000365588:Q956H	Q	-	3	2	MDC1	30783467	0.732000	0.28121	0.098000	0.21074	0.384000	0.30261	0.148000	0.16224	0.263000	0.21812	0.443000	0.29094	CAG		0.622	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	71	1	0	5.9392e-07	1	6.91975e-07	6	71				
HECW1	23072	broad.mit.edu	37	7	43519258	43519258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43519258G>A	ENST00000395891.2	+	17	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1050	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3148-3150)cGa>cAa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							160.0	154.0	156.0					7																	43519258		1938	4139	6077	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43519258G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3149G>A	7.37:g.43519258G>A	ENSP00000379228:p.Arg1050Gln					HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	p.R1050Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			17	3754	+			1050			WW 2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3149G>A	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.835501|5.835501	0.97003|0.97003	.|.	.|.	ENSG00000002746|ENSG00000002746	ENST00000429529|ENST00000395891;ENST00000453890;ENST00000265522	.|D;D	.|0.85088	.|-1.94;-1.94	5.66|5.66	5.66|5.66	0.87406|0.87406	.|WW/Rsp5/WWP (4);	.|0.106591	.|0.64402	.|D	.|0.000010	D|D	0.93890|0.93890	0.8045|0.8045	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.993;0.998	D|D	0.93966|0.93966	0.7245|0.7245	5|10	.|0.56958	.|D	.|0.05	.|.	19.7543|19.7543	0.96284|0.96284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1016;1050	.|B4DH42;Q76N89	.|.;HECW1_HUMAN	K|Q	3|1050;1016;1050	.|ENSP00000379228:R1050Q;ENSP00000407774:R1016Q	.|ENSP00000265522:R1050Q	E|R	+|+	1|2	0|0	HECW1|HECW1	43485783|43485783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.840000|9.840000	0.99478|0.99478	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.517	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		45	103	0	0	0	1	0	45	103				
INF2	64423	broad.mit.edu	37	14	105179215	105179215	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105179215G>A	ENST00000392634.4	+	18	2773	c.2661G>A	c.(2659-2661)gaG>gaA	p.E887E	INF2_ENST00000330634.7_Silent_p.E887E	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	887	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGCCATCGAGCAGAAGCAAC	0.647																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2659-2661)gaG>gaA		inverted formin, FH2 and WH2 domain containing							37.0	41.0	40.0					14																	105179215		2079	4212	6291	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105179215G>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2661G>A	14.37:g.105179215G>A						INF2_ENST00000330634.7_Silent_p.E887E	p.E887E	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	18	2773	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	887			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2661G>A	CCDS9989.2																																																																																				0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		14	27	0	0	0	1	0	14	27				
ACTN2	88	broad.mit.edu	37	1	236924466	236924466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236924466C>T	ENST00000366578.4	+	20	2685	c.2519C>T	c.(2518-2520)tCt>tTt	p.S840F	ACTN2_ENST00000542672.1_Missense_Mutation_p.S840F|ACTN2_ENST00000546208.1_Missense_Mutation_p.S334F	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	840					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCCTGGCTTCTGATAAGGTC	0.473																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(2518-2520)tCt>tTt		actinin, alpha 2							79.0	77.0	78.0					1																	236924466		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236924466C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2519C>T	1.37:g.236924466C>T	ENSP00000355537:p.Ser840Phe					ACTN2_ENST00000546208.1_Missense_Mutation_p.S334F|ACTN2_ENST00000542672.1_Missense_Mutation_p.S840F	p.S840F	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		20	2685	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	840					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2519C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238777	0.79800	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.46063	0.88;0.88;0.88	5.88	4.98	0.66077	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.900858	0.09808	N	0.753204	T	0.59307	0.2184	L	0.60455	1.87	0.51482	D	0.999928	P;P;P;B	0.48834	0.86;0.779;0.916;0.001	P;P;P;B	0.57009	0.811;0.516;0.811;0.002	T	0.54118	-0.8341	10	0.87932	D	0	.	14.8861	0.70570	0.0:0.9316:0.0:0.0684	.	625;840;610;840	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	F	840;840;334;609	ENSP00000443495:S840F;ENSP00000355537:S840F;ENSP00000438384:S334F	ENSP00000355537:S840F	S	+	2	0	ACTN2	234991089	0.969000	0.33509	0.989000	0.46669	0.971000	0.66376	4.861000	0.62969	1.490000	0.48466	0.655000	0.94253	TCT		0.473	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		25	24	0	0	0	1	0	25	24				
TRIM3	10612	broad.mit.edu	37	11	6477399	6477399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6477399C>T	ENST00000525074.1	-	7	1830	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Missense_Mutation_p.R401H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R479H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R360H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R479H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	479					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCTTCCACGACTGCCTGT	0.532																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1435-1437)cGt>cAt		tripartite motif containing 3							104.0	94.0	97.0					11																	6477399		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477399C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1436G>A	11.37:g.6477399C>T	ENSP00000433102:p.Arg479His					TRIM3_ENST00000537602.1_Missense_Mutation_p.R401H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R360H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R479H|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R479H	p.R479H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1830	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	479					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1436G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367974	0.61513	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;D	0.83914	-0.66;-0.66;-0.84;-0.66;-1.78	5.66	4.75	0.60458	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	N	0.19112	0.55	0.48341	D	0.999638	P;B	0.34892	0.474;0.188	B;B	0.26969	0.075;0.023	T	0.62826	-0.6772	10	0.19147	T	0.46	-11.2427	9.8247	0.40905	0.0:0.842:0.0:0.158	.	360;479	F5H2Q8;O75382	.;TRIM3_HUMAN	H	479;479;479;479;468;401;479;360	ENSP00000433102:R479H;ENSP00000340797:R479H;ENSP00000441091:R401H;ENSP00000352508:R479H;ENSP00000445460:R360H	ENSP00000337094:R468H	R	-	2	0	TRIM3	6433975	0.993000	0.37304	0.998000	0.56505	0.989000	0.77384	3.092000	0.50207	1.391000	0.46566	0.563000	0.77884	CGT		0.532	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		4	52	0	0	0	1	0	4	52				
SP100	6672	broad.mit.edu	37	2	231282380	231282380	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231282380G>T	ENST00000264052.5	+	2	462	c.107G>T	c.(106-108)aGg>aTg	p.R36M	SP100_ENST00000409341.1_Splice_Site_p.R36M|SP100_ENST00000340126.4_Splice_Site_p.R36M|SP100_ENST00000409824.1_Intron|SP100_ENST00000409897.1_5'UTR|SP100_ENST00000341950.4_Splice_Site_p.R36M|SP100_ENST00000409112.1_Splice_Site_p.R36M|SP100_ENST00000427101.2_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	36	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gatttgcaaaggtgatgaatg	0.378																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.e2+1		SP100 nuclear antigen							159.0	146.0	150.0					2																	231282380		2203	4300	6503	SO:0001630	splice_region_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231282380G>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.107+1G>T	2.37:g.231282380G>T						SP100_ENST00000427101.2_Intron|SP100_ENST00000341950.4_Splice_Site_p.R36_splice|SP100_ENST00000409897.1_5'UTR|SP100_ENST00000409341.1_Splice_Site_p.R36_splice|SP100_ENST00000409824.1_Intron|SP100_ENST00000409112.1_Splice_Site_p.R36_splice|SP100_ENST00000340126.4_Splice_Site_p.R36_splice	p.R36_splice	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	2	462	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	36			HSR.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Splice_Site	SNP	ENST00000264052.5	37	c.107_splice	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994256	0.35226	.	.	ENSG00000067066	ENST00000264052;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950	T;T;D;T;T	0.84589	1.76;1.7;-1.87;-0.35;1.66	1.72	1.72	0.24424	Sp100 (1);	.	.	.	.	D	0.89093	0.6617	M	0.72118	2.19	0.09310	N	1	P;D;D;D;D	0.76494	0.93;0.997;0.997;0.992;0.999	P;D;D;B;D	0.65323	0.635;0.923;0.921;0.354;0.934	T	0.77547	-0.2547	9	0.87932	D	0	.	6.904	0.24299	0.0:0.0:1.0:0.0	.	36;36;36;36;36	B4E2B9;P23497-4;P23497;E7EUA7;P23497-2	.;.;SP100_HUMAN;.;.	M	36	ENSP00000264052:R36M;ENSP00000386404:R36M;ENSP00000386427:R36M;ENSP00000343023:R36M;ENSP00000342729:R36M	ENSP00000264052:R36M	R	+	2	0	SP100	230990624	0.006000	0.16342	0.054000	0.19295	0.029000	0.11900	0.184000	0.16939	1.284000	0.44531	0.467000	0.42956	AGG		0.378	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	Missense_Mutation	27	44	1	0	1.2476e-16	1	1.61147e-16	27	44				
FSTL4	23105	broad.mit.edu	37	5	132736489	132736489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132736489G>A	ENST00000265342.7	-	4	599	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	117	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGCAAGCAGCACGGTGGAG	0.562																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(349-351)gCt>gTt		follistatin-like 4							52.0	48.0	49.0					5																	132736489		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132736489G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.350C>T	5.37:g.132736489G>A	ENSP00000265342:p.Ala117Val						p.A117V	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	599	-		all_cancers(142;0.244)	117			Kazal-like.		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.350C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132396	0.77662	.	.	ENSG00000053108	ENST00000265342;ENST00000510685	T;T	0.05025	3.51;3.51	5.57	5.57	0.84162	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.239311	0.42821	D	0.000653	T	0.21062	0.0507	M	0.85373	2.75	0.80722	D	1	P	0.44659	0.84	P	0.48334	0.574	T	0.00701	-1.1603	10	0.72032	D	0.01	-14.2523	18.5328	0.90999	0.0:0.0:1.0:0.0	.	117	Q6MZW2	FSTL4_HUMAN	V	117;119	ENSP00000265342:A117V;ENSP00000427662:A119V	ENSP00000265342:A117V	A	-	2	0	FSTL4	132764388	1.000000	0.71417	0.768000	0.31515	0.214000	0.24535	9.261000	0.95576	2.638000	0.89438	0.655000	0.94253	GCT		0.562	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		16	24	0	0	0	1	0	16	24				
MASTL	84930	broad.mit.edu	37	10	27459940	27459940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27459940G>A	ENST00000375940.4	+	8	2109	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Silent_p.S684S|MASTL_ENST00000375946.4_Silent_p.S684S			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	684	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGATATTTCGTGTGCCTACA	0.358																																						ENST00000375946.4																			0				breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2050-2052)tcG>tcA		microtubule associated serine/threonine kinase-like							118.0	122.0	121.0					10																	27459940		2203	4300	6503	SO:0001819	synonymous_variant	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459940G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2052G>A	10.37:g.27459940G>A						MASTL_ENST00000342386.6_Silent_p.S684S|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Silent_p.S684S	p.S684S	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN			8	2655	+			684			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	ENST00000375940.4	37	c.2052G>A	CCDS53502.1																																																																																				0.358	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		58	81	0	0	0	1	0	58	81				
VPS13C	54832	broad.mit.edu	37	15	62201256	62201256	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62201256A>G	ENST00000261517.5	-	65	8986	c.8913T>C	c.(8911-8913)caT>caC	p.H2971H	VPS13C_ENST00000395896.4_Silent_p.H2971H|VPS13C_ENST00000249837.3_Silent_p.H2928H|VPS13C_ENST00000395898.3_Silent_p.H2928H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATCCCTCATGGTAATCAG	0.373																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(8911-8913)caT>caC		vacuolar protein sorting 13 homolog C (S. cerevisiae)							154.0	143.0	147.0					15																	62201256		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62201256A>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8913T>C	15.37:g.62201256A>G						VPS13C_ENST00000395896.4_Silent_p.H2971H|VPS13C_ENST00000249837.3_Silent_p.H2928H|VPS13C_ENST00000395898.3_Silent_p.H2928H	p.H2971H	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			65	8986	-			2971						Silent	SNP	ENST00000261517.5	37	c.8913T>C	CCDS32257.1																																																																																				0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		8	65	0	0	0	1	0	8	65				
AMFR	267	broad.mit.edu	37	16	56423204	56423204	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56423204A>G	ENST00000290649.5	-	9	1379	c.1169T>C	c.(1168-1170)gTc>gCc	p.V390A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	390					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTCTTCCCTGACACGATTATT	0.453																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1168-1170)gTc>gCc		autocrine motility factor receptor, E3 ubiquitin protein ligase							157.0	141.0	147.0					16																	56423204		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56423204A>G	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1169T>C	16.37:g.56423204A>G	ENSP00000290649:p.Val390Ala						p.V390A	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			9	1379	-			390					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1169T>C	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	A	1.931	-0.446037	0.04604	.	.	ENSG00000159461	ENST00000290649	T	0.14022	2.54	5.82	1.07	0.20283	.	0.643829	0.16603	N	0.207254	T	0.03651	0.0104	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44711	-0.9310	10	0.08381	T	0.77	-9.7175	10.4619	0.44585	0.4559:0.0:0.5441:0.0	.	390	Q9UKV5	AMFR2_HUMAN	A	390	ENSP00000290649:V390A	ENSP00000290649:V390A	V	-	2	0	AMFR	54980705	0.033000	0.19621	0.977000	0.42913	0.978000	0.69477	0.113000	0.15499	0.145000	0.18977	-0.334000	0.08254	GTC		0.453	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			37	58	0	0	0	1	0	37	58				
SYNE2	23224	broad.mit.edu	37	14	64591874	64591874	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64591874C>A	ENST00000344113.4	+	71	13712	c.13500C>A	c.(13498-13500)acC>acA	p.T4500T	SYNE2_ENST00000357395.3_Silent_p.T885T|SYNE2_ENST00000358025.3_Silent_p.T4500T|SYNE2_ENST00000554584.1_Silent_p.T4451T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.T885T|SYNE2_ENST00000555002.1_Silent_p.T1134T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4500					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGAAAACCTATACCACCC	0.398																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2653-2655)acC>acA		spectrin repeat containing, nuclear envelope 2							126.0	110.0	115.0					14																	64591874		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64591874C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13500C>A	14.37:g.64591874C>A						SYNE2_ENST00000555002.1_Silent_p.T1134T|SYNE2_ENST00000394768.2_Silent_p.T885T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.T4500T|SYNE2_ENST00000554584.1_Silent_p.T4451T|SYNE2_ENST00000358025.3_Silent_p.T4500T	p.T885T			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	72	13799	+			4500					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2655C>A	CCDS41963.1																																																																																				0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	57	1	0	0.00909568	1	0.00947522	4	57				
ZNF845	91664	broad.mit.edu	37	19	53856014	53856014	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856014T>G	ENST00000595091.1	+	5	2305	c.2086T>G	c.(2086-2088)Tgt>Ggt	p.C696G	ZNF845_ENST00000458035.1_Missense_Mutation_p.C696G			Q96IR2	ZN845_HUMAN	zinc finger protein 845	696				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGTAATGAGTGTGGCAAGAC	0.428																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2086-2088)Tgt>Ggt		zinc finger protein 845							81.0	81.0	81.0					19																	53856014		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856014T>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2086T>G	19.37:g.53856014T>G	ENSP00000470005:p.Cys696Gly					ZNF845_ENST00000595091.1_Missense_Mutation_p.C696G	p.C696G	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2203	+			696	Missing (in Ref. 1; BAG58121).					Missense_Mutation	SNP	ENST00000595091.1	37	c.2086T>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437085	0.43224	.	.	ENSG00000213799	ENST00000458035	D	0.85861	-2.04	2.22	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91126	0.7206	H	0.97962	4.115	0.26549	N	0.973947	B	0.27823	0.19	B	0.39185	0.293	D	0.86122	0.1569	9	0.87932	D	0	.	6.4653	0.21977	0.2179:0.0:0.0:0.7821	.	696	Q96IR2	ZN845_HUMAN	G	696	ENSP00000388311:C696G	ENSP00000388311:C696G	C	+	1	0	ZNF845	58547826	1.000000	0.71417	0.000000	0.03702	0.011000	0.07611	3.630000	0.54273	0.097000	0.17492	0.378000	0.23410	TGT		0.428	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		9	97	0	0	0	1	0	9	97				
PUS7	54517	broad.mit.edu	37	7	105148912	105148912	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105148912C>A	ENST00000356362.2	-	2	262	c.48G>T	c.(46-48)ctG>ctT	p.L16L	PUS7_ENST00000469408.1_Silent_p.L16L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	16					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTCGACAACCAGTGCCCCAC	0.433																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(46-48)ctG>ctT		pseudouridylate synthase 7 homolog (S. cerevisiae)							166.0	149.0	154.0					7																	105148912		2203	4300	6503	SO:0001819	synonymous_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148912C>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.48G>T	7.37:g.105148912C>A						PUS7_ENST00000469408.1_Silent_p.L16L	p.L16L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			2	262	-			16					Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	c.48G>T	CCDS34725.1																																																																																				0.433	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		8	121	1	0	1.12685e-05	1	1.27857e-05	8	121				
ADH5	128	broad.mit.edu	37	4	100002577	100002577	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100002577G>T	ENST00000296412.8	-	4	333	c.283C>A	c.(283-285)Cca>Aca	p.P95T	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		CCACACTGTGGGATGTAAAGT	0.358																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(283-285)Cca>Aca		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						64.0	60.0	61.0					4																	100002577		1878	4104	5982	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:100002577G>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.283C>A	4.37:g.100002577G>T	ENSP00000296412:p.Pro95Thr					ADH5_ENST00000512991.1_5'UTR	p.P95T	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	4	333	-			95						Missense_Mutation	SNP	ENST00000296412.8	37	c.283C>A	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666715	0.67814	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.04275	3.66;3.66	4.88	4.88	0.63580	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00308	-1.1829	9	.	.	.	.	18.292	0.90134	0.0:0.0:1.0:0.0	.	95;95	Q5U043;P11766	.;ADHX_HUMAN	T	95;82	ENSP00000296412:P95T;ENSP00000427049:P82T	.	P	-	1	0	ADH5	100221600	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	5.660000	0.68018	2.554000	0.86153	0.644000	0.83932	CCA		0.358	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		6	12	1	0	0.000274275	1	0.000298791	6	12				
FANCM	57697	broad.mit.edu	37	14	45645467	45645467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45645467G>A	ENST00000267430.5	+	14	3595	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	FANCM_ENST00000542564.2_Silent_p.T1144T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1170					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGTGAAACGCCTCTGGTCT	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3508-3510)acG>acA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							98.0	108.0	105.0					14																	45645467		2201	4300	6501	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645467G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3510G>A	14.37:g.45645467G>A						FANCM_ENST00000542564.2_Silent_p.T1144T	p.T1170T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	3595	+			1170					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.3510G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.727524	0.00694	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.31	-4.78	0.03209	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27739	-1.0065	4	.	.	.	.	3.6154	0.08075	0.244:0.19:0.4698:0.0962	.	.	.	.	T	103	.	.	A	+	1	0	FANCM	44715217	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.221000	0.09202	-1.054000	0.03214	-1.239000	0.01543	GCC		0.373	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		45	51	0	0	0	1	0	45	51				
GANC	2595	broad.mit.edu	37	15	42640395	42640395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42640395G>A	ENST00000318010.8	+	21	2639	c.2399G>A	c.(2398-2400)cGg>cAg	p.R800Q	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	800					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TATGGACTCCGGGTTGCTCTA	0.408																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2398-2400)cGg>cAg		glucosidase, alpha; neutral C							93.0	89.0	90.0					15																	42640395		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42640395G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2399G>A	15.37:g.42640395G>A	ENSP00000326227:p.Arg800Gln					CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	p.R800Q	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	21	2639	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	800					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2399G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053056	0.55218	.	.	ENSG00000214013	ENST00000318010	D	0.86627	-2.15	6.02	6.02	0.97574	.	0.076258	0.64402	D	0.000007	D	0.88440	0.6437	M	0.77103	2.36	0.80722	D	1	B	0.09022	0.002	B	0.17433	0.018	T	0.82981	-0.0187	10	0.28530	T	0.3	-2.6051	20.547	0.99278	0.0:0.0:1.0:0.0	.	800	Q8TET4	GANC_HUMAN	Q	800	ENSP00000326227:R800Q	ENSP00000447925:R32Q	R	+	2	0	GANC	40427687	0.414000	0.25408	1.000000	0.80357	0.987000	0.75469	0.696000	0.25541	2.850000	0.98022	0.650000	0.86243	CGG		0.408	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		12	17	0	0	0	1	0	12	17				
SIGLEC8	27181	broad.mit.edu	37	19	51961460	51961460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961460G>A	ENST00000321424.3	-	1	248	c.182C>T	c.(181-183)cCa>cTa	p.P61L	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P61L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P61L|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	61	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCATGAACTGGGTCAGAGTC	0.602																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(181-183)cCa>cTa		sialic acid binding Ig-like lectin 8							128.0	110.0	116.0					19																	51961460		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961460G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.182C>T	19.37:g.51961460G>A	ENSP00000321077:p.Pro61Leu					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P61L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P61L	p.P61L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	248	-		all_neural(266;0.0199)	61			Ig-like V-type.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.182C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.460482	0.26248	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.23147	1.92;1.92;1.92	2.14	0.993	0.19825	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.863200	0.03380	N	0.200299	T	0.51041	0.1651	M	0.86740	2.835	0.09310	N	1	D;P;P	0.71674	0.998;0.941;0.698	D;B;B	0.64410	0.925;0.277;0.333	T	0.17319	-1.0373	10	0.25751	T	0.34	.	5.6557	0.17640	0.0:0.0:0.6781:0.3219	.	61;61;61	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	61	ENSP00000389142:P61L;ENSP00000321077:P61L;ENSP00000339448:P61L	ENSP00000321077:P61L	P	-	2	0	SIGLEC8	56653272	0.055000	0.20627	0.000000	0.03702	0.490000	0.33462	3.772000	0.55325	0.395000	0.25257	0.508000	0.49915	CCA		0.602	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		33	43	0	0	0	1	0	33	43				
RASAL1	8437	broad.mit.edu	37	12	113554924	113554924	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113554924C>A	ENST00000261729.5	-	9	1000	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C	RASAL1_ENST00000548055.1_Missense_Mutation_p.G229C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.G229C|RASAL1_ENST00000546530.1_Missense_Mutation_p.G229C			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	229					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGGAACCAGCCTTTAGGTGGC	0.637																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(685-687)Ggc>Tgc		RAS protein activator like 1 (GAP1 like)							54.0	51.0	52.0					12																	113554924		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113554924C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.685G>T	12.37:g.113554924C>A	ENSP00000261729:p.Gly229Cys					RASAL1_ENST00000548055.1_Missense_Mutation_p.G229C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.G229C|RASAL1_ENST00000446861.3_Missense_Mutation_p.G229C	p.G229C	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			9	970	-			229					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.685G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048537	0.55110	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.58	5.58	0.84498	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.355641	0.32687	N	0.005778	D	0.88403	0.6427	M	0.74881	2.28	0.38616	D	0.951024	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.982;0.982;0.992;0.996;0.981;0.982;0.998	D	0.90110	0.4191	10	0.87932	D	0	.	11.7759	0.51985	0.0:0.9188:0.0:0.0812	.	229;229;229;241;229;229;229	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	C	229	ENSP00000450244:G229C;ENSP00000261729:G229C;ENSP00000395920:G229C;ENSP00000448510:G229C	ENSP00000261729:G229C	G	-	1	0	RASAL1	112039307	0.995000	0.38212	0.955000	0.39395	0.265000	0.26407	3.620000	0.54203	2.611000	0.88343	0.655000	0.94253	GGC		0.637	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		22	29	1	0	1.10923e-09	1	1.35296e-09	22	29				
SLC27A1	376497	broad.mit.edu	37	19	17597672	17597672	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597672G>A	ENST00000252595.7	+	2	565	c.468G>A	c.(466-468)gcG>gcA	p.A156A	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_De_novo_Start_OutOfFrame|SLC27A1_ENST00000442725.1_Silent_p.A156A	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	156					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGAGGCCGCGCTGCTCAACG	0.706																																						ENST00000598424.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23								solute carrier family 27 (fatty acid transporter), member 1							15.0	18.0	17.0					19																	17597672		2183	4272	6455	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17597672G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.468G>A	19.37:g.17597672G>A						SLC27A1_ENST00000442725.1_Silent_p.A156A|SLC27A1_ENST00000252595.7_Silent_p.A156A				Q6PCB7	S27A1_HUMAN			0	760	+								A6NIH2|B7Z662	Translation_Start_Site	SNP	ENST00000252595.7	37		CCDS32953.1																																																																																				0.706	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		5	8	0	0	0	1	0	5	8				
SLC39A9	55334	broad.mit.edu	37	14	69908877	69908877	+	Silent	SNP	C	C	T	rs150425244		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908877C>T	ENST00000336643.5	+	3	975	c.297C>T	c.(295-297)caC>caT	p.H99H	SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Silent_p.H99H|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Silent_p.H99H	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	99					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCACAGCCACGACCACACAC	0.463																																						ENST00000336643.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(295-297)caC>caT		solute carrier family 39, member 9		C		1,4405	2.1+/-5.4	0,1,2202	336.0	273.0	295.0		297	-3.2	0.9	14	dbSNP_134	295	0,8600		0,0,4300	no	coding-synonymous	SLC39A9	NM_018375.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		99/308	69908877	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69908877C>T		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.297C>T	14.37:g.69908877C>T						SLC39A9_ENST00000557046.1_Silent_p.H99H|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Silent_p.H99H|SLC39A9_ENST00000555245.1_3'UTR	p.H99H	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	3	975	+			99					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Silent	SNP	ENST00000336643.5	37	c.297C>T	CCDS9795.1																																																																																				0.463	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		56	73	0	0	0	1	0	56	73				
TAOK2	9344	broad.mit.edu	37	16	29989110	29989110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989110G>A	ENST00000308893.4	+	2	1060	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.R6Q|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.R6Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	6					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGGGGCCGGGCCGGGAGC	0.602																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(16-18)cGg>cAg		TAO kinase 2							23.0	28.0	26.0					16																	29989110		2196	4300	6496	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989110G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.17G>A	16.37:g.29989110G>A	ENSP00000310094:p.Arg6Gln					TAOK2_ENST00000543033.1_Missense_Mutation_p.R6Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R6Q	p.R6Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			2	1060	+			6					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.17G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397176	0.96009	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.73047	-0.71;-0.57;-0.71	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.97;0.97	T	0.77778	-0.2460	9	.	.	.	.	18.1978	0.89829	0.0:0.0:1.0:0.0	.	6;6;6	Q9UL54-2;A0PJ48;Q9UL54	.;.;TAOK2_HUMAN	Q	6	ENSP00000310094:R6Q;ENSP00000440336:R6Q;ENSP00000279394:R6Q	.	R	+	2	0	TAOK2	29896611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.349000	0.97066	2.668000	0.90789	0.655000	0.94253	CGG		0.602	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		3	23	0	0	0	1	0	3	23				
CMAS	55907	broad.mit.edu	37	12	22218057	22218057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22218057A>G	ENST00000229329.2	+	8	1247	c.1117A>G	c.(1117-1119)Aat>Gat	p.N373D		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	373					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTGATAGGAAATGAAGTGTC	0.413																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1117-1119)Aat>Gat		cytidine monophosphate N-acetylneuraminic acid synthetase							146.0	157.0	153.0					12																	22218057		2203	4300	6503	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22218057A>G	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.1117A>G	12.37:g.22218057A>G	ENSP00000229329:p.Asn373Asp						p.N373D	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			8	1247	+			373					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.1117A>G	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.585145	0.46110	.	.	ENSG00000111726	ENST00000229329	T	0.14144	2.53	5.33	5.33	0.75918	HAD-like domain (2);	0.100001	0.64402	D	0.000003	T	0.09862	0.0242	N	0.03071	-0.42	0.80722	D	1	P	0.49559	0.925	P	0.52957	0.714	T	0.42481	-0.9449	10	0.10902	T	0.67	-11.6344	13.8527	0.63508	1.0:0.0:0.0:0.0	.	373	Q8NFW8	NEUA_HUMAN	D	373	ENSP00000229329:N373D	ENSP00000229329:N373D	N	+	1	0	CMAS	22109324	0.999000	0.42202	0.948000	0.38648	0.990000	0.78478	3.512000	0.53407	2.001000	0.58596	0.455000	0.32223	AAT		0.413	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		44	77	0	0	0	1	0	44	77				
SMC1A	8243	broad.mit.edu	37	X	53426541	53426541	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53426541T>C	ENST00000322213.4	-	16	2659	c.2532A>G	c.(2530-2532)aaA>aaG	p.K844K		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	844					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATTTTCATCTTTTTTCACTG	0.383																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(2530-2532)aaA>aaG		structural maintenance of chromosomes 1A							222.0	184.0	197.0					X																	53426541		2203	4300	6503	SO:0001819	synonymous_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53426541T>C	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2532A>G	X.37:g.53426541T>C							p.K844K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			16	2659	-			844					O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	c.2532A>G	CCDS14352.1																																																																																				0.383	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		18	66	0	0	0	1	0	18	66				
UGCG	7357	broad.mit.edu	37	9	114688752	114688752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114688752G>T	ENST00000374279.3	+	5	984	c.534G>T	c.(532-534)caG>caT	p.Q178H	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	178					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGACAGACAGGGCTTTGCTG	0.443																																						ENST00000374279.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(532-534)caG>caT		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)						109.0	103.0	105.0					9																	114688752		2203	4300	6503	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114688752G>T	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.534G>T	9.37:g.114688752G>T	ENSP00000363397:p.Gln178His					UGCG_ENST00000495085.1_3'UTR	p.Q178H	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	5	984	+			178					Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.534G>T	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118905	0.77323	.	.	ENSG00000148154	ENST00000374279	T	0.59364	0.27	5.87	3.0	0.34707	Glycosyl transferase, family 2 (1);	0.048906	0.85682	D	0.000000	T	0.48909	0.1526	N	0.14661	0.345	0.58432	D	0.999999	P	0.47841	0.901	P	0.54174	0.744	T	0.46679	-0.9174	10	0.46703	T	0.11	.	8.4379	0.32797	0.2963:0.0:0.7037:0.0	.	178	Q16739	CEGT_HUMAN	H	178	ENSP00000363397:Q178H	ENSP00000363397:Q178H	Q	+	3	2	UGCG	113728573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.318000	0.33643	0.914000	0.36822	0.655000	0.94253	CAG		0.443	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		5	56	1	0	5.9392e-07	1	6.91975e-07	5	56				
PHIP	55023	broad.mit.edu	37	6	79650991	79650991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79650991C>A	ENST00000275034.4	-	40	5052	c.4885G>T	c.(4885-4887)Gga>Tga	p.G1629*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1629					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATGGCTGTCCTCCATGGCCA	0.383																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4885-4887)Gga>Tga		pleckstrin homology domain interacting protein							81.0	83.0	82.0					6																	79650991		2203	4300	6503	SO:0001587	stop_gained	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650991C>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4885G>T	6.37:g.79650991C>A	ENSP00000275034:p.Gly1629*					PHIP_ENST00000479165.1_5'UTR	p.G1629*	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5052	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1629					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000275034.4	37	c.4885G>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	44	11.127917	0.99519	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	5.96	5.96	0.96718	.	0.070734	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.9298	12.6808	0.56920	0.0:0.9255:0.0:0.0745	.	.	.	.	X	1629;355	.	.	G	-	1	0	PHIP	79707710	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.363000	0.44178	2.831000	0.97527	0.650000	0.86243	GGA		0.383	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			21	116	1	0	1.9806e-07	1	2.3338e-07	21	116				
ZNF600	162966	broad.mit.edu	37	19	53270475	53270475	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53270475C>T	ENST00000338230.3	-	3	801	c.534G>A	c.(532-534)agG>agA	p.R178R		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTGGTGTTTCCTTAAGAGTG	0.368																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(532-534)agG>agA		zinc finger protein 600							112.0	119.0	117.0					19																	53270475		2203	4297	6500	SO:0001819	synonymous_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270475C>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.534G>A	19.37:g.53270475C>T							p.R178R	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	801	-			178					Q6MZR0	Silent	SNP	ENST00000338230.3	37	c.534G>A	CCDS12856.1																																																																																				0.368	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		62	102	0	0	0	1	0	62	102				
ITGAE	3682	broad.mit.edu	37	17	3658554	3658554	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3658554C>T	ENST00000263087.4	-	12	1339	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	414					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCACCTGCCGCTGAAGGGG	0.731																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.e12-1		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							4.0	5.0	5.0					17																	3658554		1594	3458	5052	SO:0001630	splice_region_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3658554C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1240-1G>A	17.37:g.3658554C>T							p.R414_splice	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	12	1339	-			414					Q17RS6|Q9NZU9	Splice_Site	SNP	ENST00000263087.4	37	c.1239_splice	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390289	0.42410	.	.	ENSG00000083457	ENST00000263087	T	0.71341	-0.56	4.91	0.347	0.16022	.	.	.	.	.	T	0.47116	0.1428	N	0.12182	0.205	0.80722	D	1	B	0.20261	0.043	B	0.09377	0.004	T	0.27938	-1.0059	9	0.54805	T	0.06	.	6.3321	0.21276	0.0:0.4414:0.0:0.5586	.	414	P38570	ITAE_HUMAN	Q	414	ENSP00000263087:R414Q	ENSP00000263087:R414Q	R	-	2	0	ITGAE	3605303	0.007000	0.16637	0.801000	0.32222	0.343000	0.28985	0.011000	0.13264	0.206000	0.20587	0.655000	0.94253	CGG		0.731	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	Missense_Mutation	3	3	0	0	0	1	0	3	3				
B4GALT6	9331	broad.mit.edu	37	18	29205652	29205652	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29205652T>G	ENST00000306851.5	-	9	1370	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N	B4GALT6_ENST00000383131.3_Missense_Mutation_p.K319N|B4GALT6_ENST00000237019.7_Missense_Mutation_p.K319N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	358					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CAACCAGTATTTTTGGCCTAT	0.353																																						ENST00000306851.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20						c.(1072-1074)aaA>aaC		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6							103.0	101.0	101.0					18																	29205652		2203	4299	6502	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29205652T>G	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.1074A>C	18.37:g.29205652T>G	ENSP00000306459:p.Lys358Asn					B4GALT6_ENST00000237019.7_Missense_Mutation_p.K319N|B4GALT6_ENST00000383131.3_Missense_Mutation_p.K319N	p.K358N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		9	1370	-			358					O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.1074A>C	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	T	3.126	-0.179413	0.06380	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.33438	1.41;1.41;1.41	5.87	3.41	0.39046	.	0.363519	0.29266	N	0.012654	T	0.11580	0.0282	N	0.03903	-0.33	0.29448	N	0.858694	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.23297	-1.0192	10	0.17369	T	0.5	-8.3803	6.806	0.23779	0.2431:0.0:0.2552:0.5017	.	319;319;358	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	N	358;319;319	ENSP00000306459:K358N;ENSP00000237019:K319N;ENSP00000372613:K319N	ENSP00000237019:K319N	K	-	3	2	B4GALT6	27459650	1.000000	0.71417	0.958000	0.39756	0.978000	0.69477	1.438000	0.35002	0.439000	0.26476	-0.435000	0.05868	AAA		0.353	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		42	52	0	0	0	1	0	42	52				
SAMD9L	219285	broad.mit.edu	37	7	92761246	92761246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761246G>A	ENST00000318238.4	-	5	5255	c.4039C>T	c.(4039-4041)Ctt>Ttt	p.L1347F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1347F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1347F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1347					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGGATTAAGATATTCCAAG	0.388																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4039-4041)Ctt>Ttt		sterile alpha motif domain containing 9-like							109.0	108.0	109.0					7																	92761246		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761246G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4039C>T	7.37:g.92761246G>A	ENSP00000326247:p.Leu1347Phe					SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1347F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1347F	p.L1347F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5255	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1347					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.4039C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877166	0.51801	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.37915	1.17;1.17;1.17	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000008	T	0.61640	0.2363	M	0.71036	2.16	0.38367	D	0.944767	D	0.89917	1.0	D	0.87578	0.998	T	0.67051	-0.5768	10	0.87932	D	0	-11.3297	18.5581	0.91091	0.0:0.0:1.0:0.0	.	1347	Q8IVG5	SAM9L_HUMAN	F	1347;1347;1347;169	ENSP00000326247:L1347F;ENSP00000405760:L1347F;ENSP00000408796:L1347F	ENSP00000326247:L1347F	L	-	1	0	SAMD9L	92599182	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	4.849000	0.62882	2.716000	0.92895	0.467000	0.42956	CTT		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		7	196	0	0	0	1	0	7	196				
SNX14	57231	broad.mit.edu	37	6	86227481	86227481	+	Missense_Mutation	SNP	T	T	C	rs138417324	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86227481T>C	ENST00000314673.3	-	23	2437	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	SNX14_ENST00000513865.1_Missense_Mutation_p.N473S|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.N702S|SNX14_ENST00000369627.2_Missense_Mutation_p.N745S|SNX14_ENST00000346348.3_Missense_Mutation_p.N701S	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	754					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TACCTTCTTGTTGTTTTCTGA	0.348																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2260-2262)aAc>aGc		sorting nexin 14		T	SER/ASN,SER/ASN	2,4404		0,2,2201	188.0	184.0	186.0		2102,2261	5.0	1.0	6	dbSNP_134	186	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SNX14	NM_020468.3,NM_153816.3	46,46	0,4,6499	CC,CT,TT		0.0233,0.0454,0.0308	benign,benign	701/894,754/947	86227481	4,13002	2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86227481T>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2261A>G	6.37:g.86227481T>C	ENSP00000313121:p.Asn754Ser					SNX14_ENST00000369627.2_Missense_Mutation_p.N745S|SNX14_ENST00000346348.3_Missense_Mutation_p.N701S|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.N702S|SNX14_ENST00000513865.1_Missense_Mutation_p.N473S	p.N754S	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	23	2437	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	754					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.2261A>G	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670143	0.47677	4.54E-4	2.33E-4	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.28666	2.01;2.01;1.6;2.02;2.0;2.01	4.97	4.97	0.65823	.	0.044063	0.85682	D	0.000000	T	0.15219	0.0367	L	0.44542	1.39	0.58432	D	0.999991	B;B;B;B	0.21821	0.028;0.061;0.009;0.016	B;B;B;B	0.20184	0.019;0.028;0.008;0.01	T	0.03374	-1.1043	10	0.33141	T	0.24	-13.4389	14.9504	0.71067	0.0:0.0:0.0:1.0	.	745;701;754;702	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	S	701;211;754;473;702;745;672;119	ENSP00000257769:N701S;ENSP00000313121:N754S;ENSP00000420938:N473S;ENSP00000427380:N702S;ENSP00000358641:N745S;ENSP00000425630:N672S	ENSP00000313121:N754S	N	-	2	0	SNX14	86284200	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.655000	0.83696	1.999000	0.58509	0.454000	0.30748	AAC		0.348	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		40	51	0	0	0	1	0	40	51				
ENAM	10117	broad.mit.edu	37	4	71507838	71507838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71507838C>T	ENST00000396073.3	+	9	976	c.695C>T	c.(694-696)cCt>cTt	p.P232L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	232					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAGAAGATCCTCCTAAAGCA	0.413																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(694-696)cCt>cTt		enamelin							142.0	148.0	146.0					4																	71507838		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71507838C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.695C>T	4.37:g.71507838C>T	ENSP00000379383:p.Pro232Leu					ENAM_ENST00000472903.1_Intron	p.P232L	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	976	+			232					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.695C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339123	0.41398	.	.	ENSG00000132464	ENST00000396073	T	0.49139	0.79	5.89	4.08	0.47627	.	0.000000	0.56097	D	0.000030	T	0.50394	0.1613	M	0.64567	1.98	0.37903	D	0.931117	P	0.40534	0.72	P	0.46718	0.525	T	0.59021	-0.7532	10	0.72032	D	0.01	-10.8897	7.7902	0.29116	0.0:0.7538:0.1615:0.0847	.	232	Q9NRM1	ENAM_HUMAN	L	232	ENSP00000379383:P232L	ENSP00000379383:P232L	P	+	2	0	ENAM	71726702	1.000000	0.71417	0.990000	0.47175	0.187000	0.23431	4.112000	0.57845	1.529000	0.49120	0.650000	0.86243	CCT		0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		74	94	0	0	0	1	0	74	94				
LEMD3	23592	broad.mit.edu	37	12	65639941	65639941	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65639941G>T	ENST00000308330.2	+	13	2598		c.e13-1			NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3						negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTACAACAGGGAAATTGGT	0.313																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.e13-1		LEM domain containing 3							48.0	47.0	47.0					12																	65639941		2203	4300	6503	SO:0001630	splice_region_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65639941G>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2573-1G>T	12.37:g.65639941G>T								NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	13	2598	+								Q9NT47|Q9NYA5	Splice_Site	SNP	ENST00000308330.2	37		CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570926	0.65765	.	.	ENSG00000174106	ENST00000308330	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6417	0.95760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEMD3	63926208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.415000	0.97375	2.656000	0.90262	0.643000	0.83706	.		0.313	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		Intron	8	52	1	0	0.000157383	1	0.00017284	8	52				
UBN1	29855	broad.mit.edu	37	16	4925419	4925419	+	Missense_Mutation	SNP	C	C	T	rs369575874		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4925419C>T	ENST00000396658.4	+	14	3711	c.3008C>T	c.(3007-3009)tCg>tTg	p.S1003L	UBN1_ENST00000262376.6_Missense_Mutation_p.S1003L|UBN1_ENST00000545171.1_Missense_Mutation_p.S1003L|UBN1_ENST00000590769.1_Missense_Mutation_p.S1003L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1003	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGTGTGACATCGTCTACCTCC	0.597																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3007-3009)tCg>tTg		ubinuclein 1		C	LEU/SER,LEU/SER	0,4392		0,0,2196	76.0	80.0	79.0		3008,3008	5.3	1.0	16		79	1,8599		0,1,4299	no	missense,missense	UBN1	NM_001079514.1,NM_016936.3	145,145	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1003/1135,1003/1135	4925419	1,12991	2196	4300	6496	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4925419C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3008C>T	16.37:g.4925419C>T	ENSP00000379894:p.Ser1003Leu					UBN1_ENST00000590769.1_Missense_Mutation_p.S1003L|UBN1_ENST00000262376.6_Missense_Mutation_p.S1003L|UBN1_ENST00000545171.1_Missense_Mutation_p.S1003L	p.S1003L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			14	3711	+			1003			Ser-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.3008C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222988	0.58668	0.0	1.16E-4	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.53423	1.38;0.62;1.38	5.33	5.33	0.75918	.	0.353862	0.24189	N	0.040739	T	0.42223	0.1193	L	0.57536	1.79	0.34557	D	0.711959	P;P	0.39920	0.695;0.569	B;B	0.30495	0.116;0.054	T	0.56390	-0.7987	10	0.27785	T	0.31	-2.5262	17.381	0.87405	0.0:1.0:0.0:0.0	.	1003;1003	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	L	1003	ENSP00000262376:S1003L;ENSP00000442379:S1003L;ENSP00000379894:S1003L	ENSP00000262376:S1003L	S	+	2	0	UBN1	4865420	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.867000	0.63013	2.778000	0.95560	0.655000	0.94253	TCG		0.597	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		31	56	0	0	0	1	0	31	56				
GBX2	2637	broad.mit.edu	37	2	237074680	237074680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237074680G>A	ENST00000306318.4	-	2	1321	c.924C>T	c.(922-924)ggC>ggT	p.G308G	AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	308					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AATTGGCATTGCCTGCCTTCA	0.597																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(922-924)ggC>ggT		gastrulation brain homeobox 2							126.0	116.0	120.0					2																	237074680		2203	4300	6503	SO:0001819	synonymous_variant	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237074680G>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.924C>T	2.37:g.237074680G>A						GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	p.G308G	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	1321	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	308					B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	ENST00000306318.4	37	c.924C>T	CCDS2515.1																																																																																				0.597	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		32	45	0	0	0	1	0	32	45				
GPBP1L1	60313	broad.mit.edu	37	1	46099832	46099832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099832C>T	ENST00000290795.3	-	8	2042	c.821G>A	c.(820-822)aGt>aAt	p.S274N	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Missense_Mutation_p.S274N			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	274					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGAGATTGGACTGGTAAAAGC	0.483																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(820-822)aGt>aAt		GC-rich promoter binding protein 1-like 1							107.0	95.0	99.0					1																	46099832		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46099832C>T		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.821G>A	1.37:g.46099832C>T	ENSP00000290795:p.Ser274Asn					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S274N|GPBP1L1_ENST00000479235.1_5'UTR	p.S274N	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			9	2181	-	Acute lymphoblastic leukemia(166;0.155)		274					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.821G>A	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961260	0.53400	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.27104	1.69;1.69	6.16	5.22	0.72569	.	0.038490	0.85682	N	0.000000	T	0.18635	0.0447	L	0.29908	0.895	0.44085	D	0.996844	B	0.02656	0.0	B	0.04013	0.001	T	0.05435	-1.0885	10	0.23302	T	0.38	-14.7282	11.731	0.51737	0.0:0.9095:0.0:0.0905	.	274	Q9HC44	GPBL1_HUMAN	N	274	ENSP00000290795:S274N;ENSP00000347224:S274N	ENSP00000290795:S274N	S	-	2	0	GPBP1L1	45872419	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.654000	0.54453	1.491000	0.48482	0.650000	0.86243	AGT		0.483	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		28	41	0	0	0	1	0	28	41				
CCT2	10576	broad.mit.edu	37	12	69991024	69991024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69991024C>T	ENST00000299300.6	+	11	1259	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	CCT2_ENST00000543146.2_Silent_p.D310D|CCT2_ENST00000544368.2_Silent_p.D357D	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	357					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGGAGAAGACAAACTCATTC	0.413																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(928-930)gaC>gaT		chaperonin containing TCP1, subunit 2 (beta)							257.0	233.0	241.0					12																	69991024		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991024C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1071C>T	12.37:g.69991024C>T						CCT2_ENST00000299300.6_Silent_p.D357D|CCT2_ENST00000544368.2_Silent_p.D357D	p.D310D	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		11	1412	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		357					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.930C>T	CCDS8991.1																																																																																				0.413	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		63	115	0	0	0	1	0	63	115				
ZBTB46	140685	broad.mit.edu	37	20	62384176	62384176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62384176G>T	ENST00000245663.4	-	4	1411	c.1261C>A	c.(1261-1263)Ccg>Acg	p.P421T	ZBTB46_ENST00000395104.1_Missense_Mutation_p.P421T|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P421T	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	421					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGCAGTACGGACACTTGAAC	0.607																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1261-1263)Ccg>Acg		zinc finger and BTB domain containing 46							129.0	96.0	107.0					20																	62384176		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62384176G>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1261C>A	20.37:g.62384176G>T	ENSP00000245663:p.Pro421Thr					ZBTB46_ENST00000302995.2_Missense_Mutation_p.P421T|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P421T	p.P421T	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			4	1411	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		421					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.1261C>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297417	0.81025	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.12147	2.71;2.71;2.71	4.68	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.28115	0.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.05321	-1.0892	10	0.20519	T	0.43	.	16.5844	0.84724	0.0:0.0:1.0:0.0	.	421	Q86UZ6	ZBT46_HUMAN	T	421	ENSP00000245663:P421T;ENSP00000303102:P421T;ENSP00000378536:P421T	ENSP00000245663:P421T	P	-	1	0	ZBTB46	61854620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.877000	0.87225	2.139000	0.66308	0.650000	0.86243	CCG		0.607	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		13	20	1	0	6.31663e-08	1	7.49729e-08	13	20				
ZFYVE1	53349	broad.mit.edu	37	14	73442413	73442413	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73442413T>G	ENST00000556143.1	-	9	2372	c.1652A>C	c.(1651-1653)aAg>aCg	p.K551T	ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K537T|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K551T|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.K136T|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.K136T	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	551					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTTGTTGTCCTTCAGAAACCC	0.527																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1651-1653)aAg>aCg		zinc finger, FYVE domain containing 1							105.0	85.0	92.0					14																	73442413		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73442413T>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1652A>C	14.37:g.73442413T>G	ENSP00000450742:p.Lys551Thr					ZFYVE1_ENST00000394207.2_Missense_Mutation_p.K136T|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K537T|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.K136T|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K551T	p.K551T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	9	2372	-		all_lung(585;1.33e-09)	551					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.1652A>C	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185590	0.57909	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.05;-0.05	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.41236	1.265	0.58432	D	0.999997	B;B	0.22683	0.04;0.073	B;B	0.19391	0.025;0.018	T	0.49283	-0.8956	10	0.29301	T	0.29	-31.5047	16.8222	0.85835	0.0:0.0:0.0:1.0	.	551;551	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	T	551;537;551;136;136	ENSP00000452442:K551T;ENSP00000326921:K537T;ENSP00000450742:K551T;ENSP00000377757:K136T;ENSP00000452232:K136T	ENSP00000326921:K551T	K	-	2	0	ZFYVE1	72512166	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.289000	0.72696	2.371000	0.80710	0.533000	0.62120	AAG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		7	37	0	0	0	1	0	7	37				
TTN	7273	broad.mit.edu	37	2	179452805	179452805	+	Missense_Mutation	SNP	G	G	A	rs370687831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179452805G>A	ENST00000591111.1	-	255	58630	c.58406C>T	c.(58405-58407)gCg>gTg	p.A19469V	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12045V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12170V|TTN_ENST00000342992.6_Missense_Mutation_p.A18542V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A21110V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12237V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19469	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGACGCATCTGCTAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20225	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63328-63330)gCg>gTg		titin		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,3982		0,0,1991	97.0	95.0	95.0		36710,36509,55625,36134	2.3	0.0	2		95	5,8325		0,5,4160	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	64,64,64,64	0,5,6151	AA,AG,GG		0.06,0.0,0.0406	benign,benign,benign,benign	12237/27119,12170/27052,18542/33424,12045/26927	179452805	5,12307	1991	4165	6156	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452805G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58406C>T	2.37:g.179452805G>A	ENSP00000465570:p.Ala19469Val					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12045V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18542V|TTN_ENST00000359218.5_Missense_Mutation_p.A12170V|TTN_ENST00000342175.6_Missense_Mutation_p.A12237V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A19469V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.A21110V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		305	63553	-			19469			Fibronectin type-III 53.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63329C>T		.	.	.	.	.	.	.	.	.	.	G	8.908	0.958008	0.18507	0.0	6.0E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.05	2.35	0.29111	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29223	0.0727	N	0.04636	-0.2	0.09310	N	1	B;B;B;B	0.22080	0.064;0.064;0.064;0.064	B;B;B;B	0.25140	0.031;0.031;0.058;0.058	T	0.25641	-1.0126	9	0.87932	D	0	.	6.0005	0.19517	0.2494:0.0:0.6293:0.1214	.	12045;12170;12237;19469	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	18542;12045;12237;12170;12043	ENSP00000343764:A18542V;ENSP00000434586:A12045V;ENSP00000340554:A12237V;ENSP00000352154:A12170V	ENSP00000340554:A12237V	A	-	2	0	TTN	179161051	0.001000	0.12720	0.000000	0.03702	0.930000	0.56654	1.063000	0.30567	0.171000	0.19730	0.650000	0.86243	GCG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	33	0	0	0	1	0	31	33				
FAM83F	113828	broad.mit.edu	37	22	40417586	40417586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40417586C>T	ENST00000333407.6	+	4	1166	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	FAM83F_ENST00000473717.1_Nonsense_Mutation_p.Q190*	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	358										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCCGGAGGGGCAGGAGGAGGG	0.716																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(1072-1074)Cag>Tag		family with sequence similarity 83, member F							16.0	17.0	17.0					22																	40417586		2188	4277	6465	SO:0001587	stop_gained	113828							g.chr22:40417586C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1072C>T	22.37:g.40417586C>T	ENSP00000330432:p.Gln358*					FAM83F_ENST00000473717.1_3'UTR	p.Q358*	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	1166	+			358					Q96FD6	Nonsense_Mutation	SNP	ENST00000333407.6	37	c.1072C>T	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272164	0.80469	.	.	ENSG00000133477	ENST00000333407	.	.	.	4.79	4.79	0.61399	.	0.823542	0.11038	N	0.606459	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-21.3873	8.4833	0.33057	0.1453:0.6391:0.2156:0.0	.	.	.	.	X	358	.	ENSP00000330432:Q358X	Q	+	1	0	FAM83F	38747532	1.000000	0.71417	0.984000	0.44739	0.341000	0.28922	4.029000	0.57253	2.484000	0.83849	0.561000	0.74099	CAG		0.716	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		5	22	0	0	0	1	0	5	22				
SIPA1L1	26037	broad.mit.edu	37	14	72165699	72165699	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72165699C>T	ENST00000555818.1	+	11	3724	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	SIPA1L1_ENST00000381232.3_Splice_Site_p.L1126L|SIPA1L1_ENST00000537413.1_Splice_Site_p.L601L|SIPA1L1_ENST00000358550.2_Splice_Site_p.L1126L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1126					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACATGCAGGCTGTCTCCTGG	0.428																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.e11-1		signal-induced proliferation-associated 1 like 1							130.0	118.0	123.0					14																	72165699		2203	4300	6503	SO:0001630	splice_region_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72165699C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3375-1C>T	14.37:g.72165699C>T						SIPA1L1_ENST00000537413.1_Splice_Site_p.L601_splice|SIPA1L1_ENST00000381232.3_Splice_Site_p.L1126_splice|SIPA1L1_ENST00000358550.2_Splice_Site_p.L1126_splice	p.L1126_splice	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	11	3724	+			1126					J3KP19|O95321|Q9UDU4|Q9UNU4	Splice_Site	SNP	ENST00000555818.1	37	c.3374_splice	CCDS9807.1																																																																																				0.428	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	Silent	5	71	0	0	0	1	0	5	71				
SLITRK6	84189	broad.mit.edu	37	13	86368646	86368646	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86368646A>T	ENST00000400286.2	-	2	2596	c.1998T>A	c.(1996-1998)acT>acA	p.T666T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	666					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAGTGTGATGAGTGGTTTTAT	0.448																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1996-1998)acT>acA		SLIT and NTRK-like family, member 6							201.0	194.0	196.0					13																	86368646		2006	4168	6174	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86368646A>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1998T>A	13.37:g.86368646A>T							p.T666T	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2596	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		666					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.1998T>A	CCDS41903.1																																																																																				0.448	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		5	168	0	0	0	1	0	5	168				
KCND2	3751	broad.mit.edu	37	7	119915023	119915023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:119915023T>A	ENST00000331113.4	+	1	1302	c.337T>A	c.(337-339)Tct>Act	p.S113T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	113					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGAGTGCATCTCTGCTTACGA	0.527																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(337-339)Tct>Act		potassium voltage-gated channel, Shal-related subfamily, member 2							149.0	148.0	148.0					7																	119915023		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915023T>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.337T>A	7.37:g.119915023T>A	ENSP00000333496:p.Ser113Thr						p.S113T	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1302	+	all_neural(327;0.117)		113					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.337T>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.853384	0.32791	.	.	ENSG00000184408	ENST00000331113	T	0.76709	-1.04	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	L	0.45422	1.42	0.46185	D	0.998911	B	0.13145	0.007	B	0.17979	0.02	T	0.65899	-0.6056	9	.	.	.	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	113	Q9NZV8	KCND2_HUMAN	T	113	ENSP00000333496:S113T	.	S	+	1	0	KCND2	119702259	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.965000	0.70387	2.188000	0.69820	0.533000	0.62120	TCT		0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		7	303	0	0	0	1	0	7	303				
KCNT1	57582	broad.mit.edu	37	9	138671301	138671301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138671301T>C	ENST00000263604.3	+	24	2769	c.2769T>C	c.(2767-2769)ctT>ctC	p.L923L	KCNT1_ENST00000491806.2_Silent_p.L909L|KCNT1_ENST00000490355.2_Silent_p.L921L|KCNT1_ENST00000298480.5_Silent_p.L942L|KCNT1_ENST00000488444.2_Silent_p.L923L|KCNT1_ENST00000486577.2_Silent_p.L901L|KCNT1_ENST00000487664.1_Silent_p.L897L|KCNT1_ENST00000371757.2_Silent_p.L942L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	923					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCTGGCTCTTTCCAAACTAG	0.607																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2824-2826)ctT>ctC		potassium channel, subfamily T, member 1							117.0	108.0	111.0					9																	138671301		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138671301T>C	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2769T>C	9.37:g.138671301T>C						KCNT1_ENST00000490355.2_Silent_p.L921L|KCNT1_ENST00000263604.3_Silent_p.L923L|KCNT1_ENST00000488444.2_Silent_p.L923L|KCNT1_ENST00000486577.2_Silent_p.L901L|KCNT1_ENST00000487664.1_Silent_p.L897L|KCNT1_ENST00000371757.2_Silent_p.L942L|KCNT1_ENST00000491806.2_Silent_p.L909L	p.L942L			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	24	2900	+		Myeloproliferative disorder(178;0.0821)	942					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2826T>C																																																																																					0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		23	49	0	0	0	1	0	23	49				
TNFAIP1	7126	broad.mit.edu	37	17	26668285	26668285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26668285C>A	ENST00000226225.2	+	4	665	c.398C>A	c.(397-399)cCt>cAt	p.P133H	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.P29H|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	133					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCCTACCAGCCTGTGTGCAAC	0.567																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(397-399)cCt>cAt		tumor necrosis factor, alpha-induced protein 1 (endothelial)							117.0	105.0	109.0					17																	26668285		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26668285C>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.398C>A	17.37:g.26668285C>A	ENSP00000226225:p.Pro133His					TNFAIP1_ENST00000544907.2_Missense_Mutation_p.P29H|TNFAIP1_ENST00000583213.1_3'UTR	p.P133H	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	665	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		133					B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.398C>A	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197507	0.94960	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.55413	0.52	5.52	5.52	0.82312	.	0.114726	0.64402	D	0.000010	T	0.67887	0.2941	M	0.74647	2.275	0.80722	D	1	P	0.52463	0.953	P	0.53954	0.738	T	0.70876	-0.4753	10	0.59425	D	0.04	-9.4064	18.4285	0.90617	0.0:1.0:0.0:0.0	.	133	Q13829	BACD2_HUMAN	H	133;29	ENSP00000226225:P133H	ENSP00000226225:P133H	P	+	2	0	TNFAIP1	23692412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.784000	0.85713	2.586000	0.87340	0.561000	0.74099	CCT		0.567	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		9	102	1	0	0.00621372	1	0.00652201	9	102				
MEX3D	399664	broad.mit.edu	37	19	1555379	1555379	+	3'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1555379G>A	ENST00000402693.4	-	0	2138				MEX3D_ENST00000388824.6_Missense_Mutation_p.T651M|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D						mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGTCTCCGTCTCCACGCC	0.637																																						ENST00000388824.6																			0				endometrium(1)|lung(3)	4						c.(1951-1953)aCg>aTg		mex-3 RNA binding family member D							31.0	36.0	35.0					19																	1555379		2200	4299	6499	SO:0001624	3_prime_UTR_variant	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1555379G>A	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.*183C>T	19.37:g.1555379G>A						MEX3D_ENST00000402693.4_3'UTR	p.T651M	NM_001174118.1	NP_001167589.1	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1951	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	0					A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	37	c.1952C>T	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396453	0.42512	.	.	ENSG00000181588	ENST00000388824	T	0.45276	0.9	4.36	2.18	0.27775	.	0.296636	0.32987	U	0.005411	T	0.23965	0.0580	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.16453	-1.0402	8	0.87932	D	0	.	7.7834	0.29078	0.0868:0.0:0.7515:0.1617	.	.	.	.	M	651	ENSP00000373476:T651M	ENSP00000373476:T651M	T	-	2	0	MEX3D	1506379	0.006000	0.16342	0.010000	0.14722	0.411000	0.31082	1.290000	0.33319	0.301000	0.22738	0.555000	0.69702	ACG		0.637	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		17	25	0	0	0	1	0	17	25				
PLXNA3	55558	broad.mit.edu	37	X	153696663	153696663	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153696663G>T	ENST00000369682.3	+	23	4156	c.3981G>T	c.(3979-3981)gaG>gaT	p.E1327D		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1327					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACGTGGAGAAGGCCCTGC	0.672																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3979-3981)gaG>gaT		plexin A3							33.0	32.0	32.0					X																	153696663		2203	4296	6499	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696663G>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3981G>T	X.37:g.153696663G>T	ENSP00000358696:p.Glu1327Asp						p.E1327D	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			23	4156	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1327					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3981G>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324054	0.41096	.	.	ENSG00000130827	ENST00000369682	T	0.12879	2.64	5.03	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.115763	0.56097	D	0.000023	T	0.30135	0.0755	L	0.54965	1.715	0.58432	D	0.999999	D	0.65815	0.995	D	0.72338	0.977	T	0.01096	-1.1453	10	0.52906	T	0.07	.	11.7693	0.51949	0.09:0.0:0.91:0.0	.	1327	P51805	PLXA3_HUMAN	D	1327	ENSP00000358696:E1327D	ENSP00000358696:E1327D	E	+	3	2	PLXNA3	153349857	1.000000	0.71417	0.998000	0.56505	0.337000	0.28794	4.704000	0.61831	1.034000	0.39945	0.526000	0.51066	GAG		0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		6	40	1	0	1.26484e-09	1	1.54084e-09	6	40				
AKAP6	9472	broad.mit.edu	37	14	33291101	33291101	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33291101G>A	ENST00000280979.4	+	13	4252	c.4082G>A	c.(4081-4083)gGc>gAc	p.G1361D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1361					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGAATTCAGGCAGTGAGAGT	0.458																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4081-4083)gGc>gAc		A kinase (PRKA) anchor protein 6							85.0	77.0	79.0					14																	33291101		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291101G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4082G>A	14.37:g.33291101G>A	ENSP00000280979:p.Gly1361Asp					AKAP6_ENST00000557272.1_Intron	p.G1361D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4252	+	Breast(36;0.0388)|Prostate(35;0.15)		1361					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4082G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927408	0.34002	.	.	ENSG00000151320	ENST00000280979	T	0.05025	3.51	5.71	5.71	0.89125	.	0.280943	0.34223	N	0.004145	T	0.09024	0.0223	M	0.63428	1.95	0.80722	D	1	P	0.48407	0.91	B	0.42462	0.388	T	0.01195	-1.1422	10	0.62326	D	0.03	-9.7144	7.4765	0.27378	0.1969:0.0:0.8031:0.0	.	1361	Q13023	AKAP6_HUMAN	D	1361	ENSP00000280979:G1361D	ENSP00000280979:G1361D	G	+	2	0	AKAP6	32360852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.860000	0.62961	2.691000	0.91804	0.563000	0.77884	GGC		0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		27	50	0	0	0	1	0	27	50				
GTPBP2	54676	broad.mit.edu	37	6	43589768	43589768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589768G>A	ENST00000307126.5	-	11	1603	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.T447M	NM_019096.3	NP_061969.3			GTP binding protein 2									p.T535M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACCACTGCCGTCTGACGTAC	0.552																																					GBM(116;405 1620 28302 32150 44768)	ENST00000307126.5																			1	Substitution - Missense(1)	p.T535M(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1603-1605)aCg>aTg		GTP binding protein 2							220.0	176.0	191.0					6																	43589768		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43589768G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1604C>T	6.37:g.43589768G>A	ENSP00000303997:p.Thr535Met					GTPBP2_ENST00000307114.7_Missense_Mutation_p.T447M|GTPBP2_ENST00000476510.1_5'UTR	p.T535M	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		11	1603	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		535						Missense_Mutation	SNP	ENST00000307126.5	37	c.1604C>T	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550408	0.86127	.	.	ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114;ENST00000434548	T;T	0.36699	1.24;1.29	5.79	5.79	0.91817	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.984	T	0.61662	-0.7017	10	0.87932	D	0	-8.9356	20.0413	0.97592	0.0:0.0:1.0:0.0	.	527;535	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	M	177;535;447;131	ENSP00000303997:T535M;ENSP00000304893:T447M	ENSP00000304893:T447M	T	-	2	0	GTPBP2	43697746	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.061000	0.89467	2.751000	0.94390	0.650000	0.86243	ACG		0.552	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			5	87	0	0	0	1	0	5	87				
FGF10	2255	broad.mit.edu	37	5	44305208	44305208	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:44305208A>G	ENST00000264664.4	-	3	630	c.516T>C	c.(514-516)aaT>aaC	p.N172N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	172					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TTTGCCTCCCATTATGCTGCC	0.408																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(514-516)aaT>aaC		fibroblast growth factor 10							274.0	237.0	249.0					5																	44305208		2203	4300	6503	SO:0001819	synonymous_variant	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44305208A>G		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.516T>C	5.37:g.44305208A>G							p.N172N	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			3	630	-	Lung NSC(6;1.12e-06)		172					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	c.516T>C	CCDS3950.1																																																																																				0.408	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		9	147	0	0	0	1	0	9	147				
MR1	3140	broad.mit.edu	37	1	181019222	181019222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181019222C>T	ENST00000367580.5	+	3	409	c.404C>T	c.(403-405)gCa>gTa	p.A135V	MR1_ENST00000434571.2_Missense_Mutation_p.A135V|MR1_ENST00000282990.6_Missense_Mutation_p.A135V|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CTGCAGTATGCATATGACGGG	0.512																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(403-405)gCa>gTa		major histocompatibility complex, class I-related							126.0	114.0	118.0					1																	181019222		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181019222C>T	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.404C>T	1.37:g.181019222C>T	ENSP00000356552:p.Ala135Val					MR1_ENST00000434571.2_Missense_Mutation_p.A135V|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron|MR1_ENST00000282990.6_Missense_Mutation_p.A135V	p.A135V	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			3	409	+			135			Alpha-2.|Ligand-binding.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.404C>T	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250900	0.59212	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990	T;T;T	0.00018	9.08;9.08;9.08	4.38	3.46	0.39613	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.568593	0.16871	N	0.196133	T	0.00440	0.0014	M	0.89785	3.06	0.27355	N	0.956144	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.997;0.998;0.997	T	0.41431	-0.9509	9	0.87932	D	0	.	7.6466	0.28323	0.1877:0.6307:0.1816:0.0	.	135;135;135;135	B4E3B1;Q95460-3;Q95460;Q95460-4	.;.;HMR1_HUMAN;.	V	135	ENSP00000388504:A135V;ENSP00000356552:A135V;ENSP00000282990:A135V	ENSP00000282990:A135V	A	+	2	0	MR1	179285845	0.984000	0.35163	0.142000	0.22268	0.669000	0.39330	1.983000	0.40648	1.169000	0.42739	0.460000	0.39030	GCA		0.512	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		8	80	0	0	0	1	0	8	80				
VCAN	1462	broad.mit.edu	37	5	82834120	82834120	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82834120T>G	ENST00000265077.3	+	8	5863	c.5298T>G	c.(5296-5298)gaT>gaG	p.D1766E	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D779E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1766	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CATCTAGTGATTCAGGTACCA	0.363																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(5296-5298)gaT>gaG		versican							73.0	76.0	75.0					5																	82834120		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834120T>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5298T>G	5.37:g.82834120T>G	ENSP00000265077:p.Asp1766Glu					VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D779E	p.D1766E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5863	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1766			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5298T>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.916484	0.33815	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85411	-1.95;-1.98;3.13	5.82	5.82	0.92795	.	0.637078	0.15313	N	0.268995	T	0.73233	0.3561	N	0.19112	0.55	0.32476	N	0.542195	B;B	0.28850	0.225;0.144	B;B	0.26517	0.07;0.053	T	0.72077	-0.4399	10	0.14656	T	0.56	.	10.9683	0.47424	0.0:0.0:0.2036:0.7964	.	779;1766	P13611-2;P13611	.;CSPG2_HUMAN	E	1766;779;779	ENSP00000265077:D1766E;ENSP00000340062:D779E;ENSP00000426251:D779E	ENSP00000265077:D1766E	D	+	3	2	VCAN	82869876	0.139000	0.22563	0.241000	0.24154	0.024000	0.10985	2.631000	0.46502	2.222000	0.72286	0.533000	0.62120	GAT		0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		31	61	0	0	0	1	0	31	61				
POM121	9883	broad.mit.edu	37	7	72412550	72412550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72412550C>T	ENST00000434423.2	+	11	2018	c.2018C>T	c.(2017-2019)gCc>gTc	p.A673V	POM121_ENST00000446813.1_Missense_Mutation_p.A408V|POM121_ENST00000358357.3_Missense_Mutation_p.A408V|POM121_ENST00000257622.4_Missense_Mutation_p.A408V|POM121_ENST00000395270.1_Missense_Mutation_p.A408V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	673	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATGGTACCAGCCACTGACACC	0.627																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1222-1224)gCc>gTc		POM121 transmembrane nucleoporin							32.0	37.0	35.0					7																	72412550		2195	4293	6488	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72412550C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2018C>T	7.37:g.72412550C>T	ENSP00000405562:p.Ala673Val					POM121_ENST00000446813.1_Missense_Mutation_p.A408V|POM121_ENST00000434423.2_Missense_Mutation_p.A673V|POM121_ENST00000358357.3_Missense_Mutation_p.A408V|POM121_ENST00000257622.4_Missense_Mutation_p.A408V	p.A408V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	2264	+		Lung NSC(55;0.163)	673			Pore side (Potential).|Ser-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.1223C>T		.	.	.	.	.	.	.	.	.	.	C	3.446	-0.113100	0.06881	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05139	3.49;3.55;3.49;3.55;3.76	2.49	-1.4	0.08968	.	1.436000	0.04828	N	0.438234	T	0.02047	0.0064	N	0.01640	-0.785	0.09310	N	1	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.003	T	0.41448	-0.9508	10	0.02654	T	1	.	6.7528	0.23497	0.0:0.6505:0.0:0.3495	.	408;673	A8MXF9;Q96HA1	.;P121A_HUMAN	V	408;408;408;408;673	ENSP00000393020:A408V;ENSP00000257622:A408V;ENSP00000378687:A408V;ENSP00000351124:A408V;ENSP00000405562:A673V	ENSP00000257622:A408V	A	+	2	0	POM121	72050486	0.000000	0.05858	0.013000	0.15412	0.172000	0.22775	-0.001000	0.12947	-0.137000	0.11455	0.173000	0.16961	GCC		0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			7	81	0	0	0	1	0	7	81				
LRRC25	126364	broad.mit.edu	37	19	18502922	18502922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18502922C>A	ENST00000339007.3	-	2	1446	c.793G>T	c.(793-795)Gag>Tag	p.E265*	LRRC25_ENST00000595840.1_Nonsense_Mutation_p.E265*	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	265						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TCATTGTCCTCTGAAGGGTGA	0.562																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(793-795)Gag>Tag		leucine rich repeat containing 25							103.0	93.0	96.0					19																	18502922		2203	4300	6503	SO:0001587	stop_gained	126364					integral to membrane		g.chr19:18502922C>A	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.793G>T	19.37:g.18502922C>A	ENSP00000340983:p.Glu265*					LRRC25_ENST00000595840.1_Nonsense_Mutation_p.E265*	p.E265*	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			2	1446	-			265					Q6IQ00|Q8N9A5	Nonsense_Mutation	SNP	ENST00000339007.3	37	c.793G>T	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	40	8.198778	0.98701	.	.	ENSG00000175489	ENST00000339007	.	.	.	4.04	4.04	0.47022	.	0.138741	0.32147	N	0.006507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.6233	12.4439	0.55639	0.0:1.0:0.0:0.0	.	.	.	.	X	265	.	ENSP00000340983:E265X	E	-	1	0	LRRC25	18363922	0.029000	0.19370	0.240000	0.24138	0.056000	0.15407	2.973000	0.49264	2.203000	0.70933	0.555000	0.69702	GAG		0.562	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		34	54	1	0	2.6416e-12	1	3.31947e-12	34	54				
SFN	2810	broad.mit.edu	37	1	27190385	27190385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27190385A>G	ENST00000339276.4	+	1	753	c.682A>G	c.(682-684)Aca>Gca	p.T228A		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACAACCTGACACTGTGGAC	0.657																																						ENST00000339276.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9						c.(682-684)Aca>Gca		stratifin							70.0	69.0	69.0					1																	27190385		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190385A>G	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.682A>G	1.37:g.27190385A>G	ENSP00000340989:p.Thr228Ala						p.T228A	NM_006142.3	NP_006133.1	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	753	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	228					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.682A>G	CCDS288.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200111	0.79015	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.47869	0.83	6.02	4.87	0.63330	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.055264	0.64402	D	0.000001	T	0.67287	0.2877	M	0.83312	2.635	0.36307	D	0.857392	P	0.48764	0.915	P	0.60173	0.87	T	0.77019	-0.2743	10	0.87932	D	0	-17.5891	12.2117	0.54383	0.872:0.0:0.0:0.128	.	228	P31947	1433S_HUMAN	A	228;196	ENSP00000340989:T228A	ENSP00000340989:T228A	T	+	1	0	SFN	27062972	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.457000	0.80775	1.065000	0.40693	0.533000	0.62120	ACA		0.657	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		4	58	0	0	0	1	0	4	58				
LARGE	9215	broad.mit.edu	37	22	34046551	34046551	+	Silent	SNP	G	G	A	rs145048151	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:34046551G>A	ENST00000354992.2	-	4	781	c.210C>T	c.(208-210)cgC>cgT	p.R70R	LARGE_ENST00000337431.2_Silent_p.R70R|LARGE_ENST00000402320.1_Silent_p.R70R|LARGE_ENST00000397394.2_Silent_p.R70R|LARGE_ENST00000437602.2_Silent_p.R70R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	70					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCTCCACCTCGCGCATGCGCA	0.692													G|||	13	0.00259585	0.0098	0.0	5008	,	,		16159	0.0		0.0	False		,,,				2504	0.0				Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(208-210)cgC>cgT		like-glycosyltransferase		G	,	36,4370	38.4+/-70.7	0,36,2167	39.0	38.0	38.0		210,210	-11.7	0.6	22	dbSNP_134	38	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	LARGE	NM_004737.4,NM_133642.3	,	0,36,6465	AA,AG,GG		0.0,0.8171,0.2769	,	70/757,70/757	34046551	36,12966	2203	4298	6501	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046551G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.210C>T	22.37:g.34046551G>A						LARGE_ENST00000437602.2_Silent_p.R70R|LARGE_ENST00000337431.2_Silent_p.R70R|LARGE_ENST00000402320.1_Silent_p.R70R|LARGE_ENST00000397394.2_Silent_p.R70R|LARGE_ENST00000462606.1_5'UTR	p.R70R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			4	781	-		Lung NSC(1;0.219)	70					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.210C>T	CCDS13912.1																																																																																				0.692	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		7	56	0	0	0	1	0	7	56				
GALNT2	2590	broad.mit.edu	37	1	230398703	230398703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230398703G>A	ENST00000366672.4	+	13	1337	c.1265G>A	c.(1264-1266)aGc>aAc	p.S422N	GALNT2_ENST00000543760.1_Missense_Mutation_p.S384N|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	422					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGAAACTCAGCTGCAAGCCT	0.403																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1264-1266)aGc>aAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							92.0	97.0	95.0					1																	230398703		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230398703G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1265G>A	1.37:g.230398703G>A	ENSP00000355632:p.Ser422Asn					GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.S384N	p.S422N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			13	1337	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	422					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1265G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	4.692	0.128612	0.08981	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.29142	1.58;1.58	5.32	0.109	0.14578	.	0.352416	0.38164	N	0.001793	T	0.05502	0.0145	N	0.00360	-1.595	0.23309	N	0.997939	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40905	-0.9538	10	0.05959	T	0.93	.	6.6513	0.22963	0.3286:0.1123:0.5592:0.0	.	422;384	Q10471;G3V1S6	GALT2_HUMAN;.	N	384;422;303	ENSP00000445017:S384N;ENSP00000355632:S422N	ENSP00000355632:S422N	S	+	2	0	GALNT2	228465326	0.753000	0.28349	0.097000	0.21041	0.984000	0.73092	0.661000	0.25023	-0.005000	0.14395	-0.291000	0.09656	AGC		0.403	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		6	96	0	0	0	1	0	6	96				
PKD1	5310	broad.mit.edu	37	16	2153459	2153459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153459C>T	ENST00000262304.4	-	23	8807	c.8599G>A	c.(8599-8601)Gcc>Acc	p.A2867T	PKD1_ENST00000423118.1_Missense_Mutation_p.A2867T|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2867					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCTCTGAGGCCAGCCGCTCG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8599-8601)Gcc>Acc		polycystic kidney disease 1 (autosomal dominant)							20.0	23.0	22.0					16																	2153459		1993	3834	5827	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153459C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8599G>A	16.37:g.2153459C>T	ENSP00000262304:p.Ala2867Thr					PKD1_ENST00000423118.1_Missense_Mutation_p.A2867T	p.A2867T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8807	-			2867					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8599G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179836	0.57800	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.72615	-0.67;-0.67	4.89	4.89	0.63831	.	0.052951	0.64402	D	0.000001	T	0.75148	0.3810	M	0.63428	1.95	0.35103	D	0.765389	D;P	0.53462	0.96;0.944	P;P	0.52309	0.695;0.48	T	0.75872	-0.3164	10	0.13108	T	0.6	.	18.255	0.90016	0.0:1.0:0.0:0.0	.	2867;2867	P98161-3;P98161	.;PKD1_HUMAN	T	2867;2867;2202	ENSP00000262304:A2867T;ENSP00000399501:A2867T	ENSP00000262304:A2867T	A	-	1	0	PKD1	2093460	1.000000	0.71417	0.167000	0.22817	0.054000	0.15201	5.493000	0.66899	2.535000	0.85469	0.555000	0.69702	GCC		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			19	52	0	0	0	1	0	19	52				
DNAH17	8632	broad.mit.edu	37	17	76487536	76487536	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487536C>A	ENST00000585328.1	-	43	6767	c.6643G>T	c.(6643-6645)Gat>Tat	p.D2215Y	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.D2206Y|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2206	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTTGTCATCCATGACTGTG	0.607																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6616-6618)Gat>Tat		dynein, axonemal, heavy chain 17							115.0	120.0	118.0					17																	76487536		2054	4216	6270	SO:0001583	missense	8632							g.chr17:76487536C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6643G>T	17.37:g.76487536C>A	ENSP00000465516:p.Asp2215Tyr					RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.D2215Y|DNAH17_ENST00000586052.1_5'UTR	p.D2206Y					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		43	6740	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6616G>T		.	.	.	.	.	.	.	.	.	.	c	25.1	4.600231	0.87055	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.97642	-4.47	4.96	4.96	0.65561	.	.	.	.	.	D	0.99339	0.9768	H	0.99842	4.835	0.58432	D	0.999998	.	.	.	.	.	.	D	0.98139	1.0435	7	0.87932	D	0	.	18.2019	0.89840	0.0:1.0:0.0:0.0	.	.	.	.	Y	2215;2206	ENSP00000374490:D2206Y	ENSP00000300671:D2215Y	D	-	1	0	DNAH17	73999131	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.558000	0.82253	2.310000	0.77875	0.543000	0.68304	GAT		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		6	10	1	0	0.00116845	1	0.00124821	6	10				
MPDZ	8777	broad.mit.edu	37	9	13122139	13122139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13122139C>T	ENST00000319217.7	-	37	5231	c.4984G>A	c.(4984-4986)Gaa>Aaa	p.E1662K	MPDZ_ENST00000536827.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1662K|MPDZ_ENST00000541093.1_Intron|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1662K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E521K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1662K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1676K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1662	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCTCCTTCTTCATAAACT	0.418																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4984-4986)Gaa>Aaa		multiple PDZ domain protein							97.0	89.0	91.0					9																	13122139		1926	4163	6089	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13122139C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4984G>A	9.37:g.13122139C>T	ENSP00000320006:p.Glu1662Lys					MPDZ_ENST00000546205.1_Missense_Mutation_p.E1676K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1662K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1662K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1662K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E521K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000541093.1_Intron|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1629K	p.E1662K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	37	5231	-			1662			PDZ 10.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4984G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.678749	0.96764	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.62	5.62	0.85841	.	0.000000	0.47852	D	0.000210	T	0.31389	0.0795	L	0.28115	0.83	0.80722	D	1	P;B;P;P;D;P	0.61697	0.806;0.113;0.927;0.769;0.99;0.769	P;B;D;P;D;P	0.72338	0.792;0.243;0.922;0.688;0.977;0.578	T	0.01824	-1.1266	10	0.40728	T	0.16	.	19.6791	0.95956	0.0:1.0:0.0:0.0	.	1629;521;367;1629;1542;1662	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	K	1662;1662;1662;598;521;1629;1629;1662;1542;1676	ENSP00000320006:E1662K;ENSP00000439807:E1662K;ENSP00000370410:E1662K;ENSP00000444230:E598K;ENSP00000444717:E521K;ENSP00000444151:E1629K;ENSP00000415208:E1629K;ENSP00000370403:E1662K;ENSP00000446358:E1676K	ENSP00000320006:E1662K	E	-	1	0	MPDZ	13112139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.009000	0.70745	2.659000	0.90383	0.655000	0.94253	GAA		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		11	32	0	0	0	1	0	11	32				
BZRAP1	9256	broad.mit.edu	37	17	56400738	56400738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56400738G>A	ENST00000343736.4	-	7	1188	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	BZRAP1_ENST00000355701.3_Missense_Mutation_p.S342L|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Missense_Mutation_p.S282L			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	342						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGAGCTCCGATTCCTGAGG	0.587																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1024-1026)tCg>tTg		benzodiazapine receptor (peripheral) associated protein 1							168.0	167.0	167.0					17																	56400738		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56400738G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1025C>T	17.37:g.56400738G>A	ENSP00000345824:p.Ser342Leu					BZRAP1_ENST00000268893.6_Missense_Mutation_p.S282L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.S342L	p.S342L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			7	1895	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		342					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1025C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	7.703	0.693572	0.15039	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04454	3.62;3.62;3.62	4.05	3.05	0.35203	.	0.616604	0.15864	N	0.240869	T	0.04815	0.0130	N	0.12569	0.235	0.09310	N	1	B;D;P	0.63880	0.013;0.993;0.694	B;P;B	0.54924	0.002;0.764;0.034	T	0.44360	-0.9333	10	0.25751	T	0.34	.	5.873	0.18814	0.2996:0.0:0.7004:0.0	.	342;282;342	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	L	342;342;282	ENSP00000347929:S342L;ENSP00000345824:S342L;ENSP00000268893:S282L	ENSP00000268893:S282L	S	-	2	0	BZRAP1	53755737	0.307000	0.24500	0.962000	0.40283	0.458000	0.32498	0.985000	0.29578	1.978000	0.57642	0.561000	0.74099	TCG		0.587	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		71	98	0	0	0	1	0	71	98				
VIL1	7429	broad.mit.edu	37	2	219292775	219292775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219292775G>T	ENST00000248444.5	+	5	523	c.435G>T	c.(433-435)aaG>aaT	p.K145N	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.K145N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	145	Core.|LPA/PIP2-binding site 2.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGCAAGAGGAACGTGG	0.642																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(433-435)aaG>aaT		villin 1							111.0	107.0	108.0					2																	219292775		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219292775G>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.435G>T	2.37:g.219292775G>T	ENSP00000248444:p.Lys145Asn					VIL1_ENST00000440053.1_Missense_Mutation_p.K145N|VIL1_ENST00000392114.2_Intron	p.K145N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	523	+		Renal(207;0.0474)	145			Core.|LPA/PIP2-binding site 2.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.435G>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025044	0.54683	.	.	ENSG00000127831	ENST00000248444;ENST00000454069;ENST00000440053	T;T;T	0.30448	1.53;2.29;1.53	4.86	3.99	0.46301	.	0.136262	0.47093	D	0.000242	T	0.31071	0.0785	L	0.58810	1.83	0.44539	D	0.997495	P;B	0.36027	0.533;0.117	B;B	0.34722	0.188;0.067	T	0.17258	-1.0375	10	0.56958	D	0.05	-31.767	13.2875	0.60251	0.0763:0.0:0.9237:0.0	.	145;145	Q96AC8;P09327	.;VILI_HUMAN	N	145;141;145	ENSP00000248444:K145N;ENSP00000412657:K141N;ENSP00000409270:K145N	ENSP00000248444:K145N	K	+	3	2	VIL1	219001019	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.335000	0.65929	1.294000	0.44707	0.462000	0.41574	AAG		0.642	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		10	77	1	0	9.70103e-10	1	1.18443e-09	10	77				
ACTR8	93973	broad.mit.edu	37	3	53911754	53911754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53911754G>A	ENST00000335754.3	-	4	530	c.430C>T	c.(430-432)Cga>Tga	p.R144*	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.R33*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	144					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTGCAGGTCGCATCTGCTTA	0.398																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(430-432)Cga>Tga		ARP8 actin-related protein 8 homolog (yeast)							90.0	86.0	87.0					3																	53911754		2203	4300	6503	SO:0001587	stop_gained	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53911754G>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.430C>T	3.37:g.53911754G>A	ENSP00000336842:p.Arg144*					ACTR8_ENST00000482349.1_Nonsense_Mutation_p.R33*	p.R144*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	4	530	-			144					B3KSW7|Q8N566|Q9H663	Nonsense_Mutation	SNP	ENST00000335754.3	37	c.430C>T	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	39	7.594245	0.98378	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	.	.	.	5.79	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-11.0446	13.5199	0.61561	0.0:0.0:0.6356:0.3644	.	.	.	.	X	144;33;33	.	ENSP00000336842:R144X	R	-	1	2	ACTR8	53886794	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.923000	0.40055	1.396000	0.46663	0.650000	0.86243	CGA		0.398	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		30	36	0	0	0	1	0	30	36				
PIGN	23556	broad.mit.edu	37	18	59777194	59777194	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59777194G>T	ENST00000357637.5	-	17	1862	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	PIGN_ENST00000400334.3_Missense_Mutation_p.L483I	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	483					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAAGGCAGGAGATGGCTTGGT	0.338																																						ENST00000357637.5																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1447-1449)Ctc>Atc		phosphatidylinositol glycan anchor biosynthesis, class N							88.0	84.0	86.0					18																	59777194		1854	4087	5941	SO:0001583	missense	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59777194G>T	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.1447C>A	18.37:g.59777194G>T	ENSP00000350263:p.Leu483Ile					PIGN_ENST00000400334.3_Missense_Mutation_p.L483I	p.L483I	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN			17	1862	-		Colorectal(73;0.187)	483					Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	c.1447C>A	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977059	0.34848	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.55588	0.51;0.51	6.06	4.27	0.50696	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.570140	0.17888	N	0.158624	T	0.53802	0.1819	M	0.69823	2.125	0.34393	D	0.694434	B;B	0.11235	0.002;0.004	B;B	0.26693	0.072;0.006	T	0.61505	-0.7049	10	0.30854	T	0.27	-13.2432	13.3659	0.60684	0.1291:0.0:0.8709:0.0	.	483;483	B2RCI8;O95427	.;PIGN_HUMAN	I	483	ENSP00000350263:L483I;ENSP00000383188:L483I	ENSP00000350263:L483I	L	-	1	0	PIGN	57928174	0.252000	0.23972	0.698000	0.30274	0.948000	0.59901	1.147000	0.31602	1.582000	0.49881	-0.137000	0.14449	CTC		0.338	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		5	56	1	0	5.9392e-07	1	6.91975e-07	5	56				
MFSD2A	84879	broad.mit.edu	37	1	40422876	40422876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40422876C>A	ENST00000372809.5	+	2	354	c.211C>A	c.(211-213)Cta>Ata	p.L71I	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L71I	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	71					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAGATCTACCTATTGGATGT	0.537																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(211-213)Cta>Ata		major facilitator superfamily domain containing 2A							167.0	169.0	168.0					1																	40422876		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40422876C>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.211C>A	1.37:g.40422876C>A	ENSP00000361895:p.Leu71Ile					MFSD2A_ENST00000372811.5_Missense_Mutation_p.L71I|MFSD2A_ENST00000420632.2_Intron	p.L71I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			2	354	+			71					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.211C>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886323	0.72410	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	D;D;D	0.88201	-2.35;-2.35;-2.35	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.995	D	0.94798	0.7968	10	0.72032	D	0.01	-0.042	16.9853	0.86338	0.0:1.0:0.0:0.0	.	34;71;71	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	I	71;69;71	ENSP00000361898:L71I;ENSP00000407606:L69I;ENSP00000361895:L71I	ENSP00000361895:L71I	L	+	1	2	MFSD2A	40195463	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.347000	0.44036	2.250000	0.74265	0.462000	0.41574	CTA		0.537	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		17	191	1	0	5.03518e-11	1	6.25324e-11	17	191				
SEL1L3	23231	broad.mit.edu	37	4	25792085	25792085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792085C>T	ENST00000399878.3	-	12	2190	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.A655T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.A537T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	690						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGAGCTGCTGCATTGCCT	0.428																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2068-2070)Gca>Aca		sel-1 suppressor of lin-12-like 3 (C. elegans)							160.0	157.0	158.0					4																	25792085		1968	4157	6125	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25792085C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2068G>A	4.37:g.25792085C>T	ENSP00000382767:p.Ala690Thr					SEL1L3_ENST00000502949.1_Missense_Mutation_p.A537T|SEL1L3_ENST00000264868.5_Missense_Mutation_p.A655T	p.A690T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			12	2190	-			690					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2068G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326485	0.41197	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.51325	0.71;0.71;0.71	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.051784	0.85682	D	0.000000	T	0.32585	0.0834	N	0.08118	0	0.36322	D	0.858319	B;P	0.36837	0.077;0.571	B;B	0.42319	0.071;0.383	T	0.35919	-0.9769	10	0.17369	T	0.5	-14.3956	14.8295	0.70137	0.0:0.8565:0.1435:0.0	.	97;690	B4DTH5;Q68CR1	.;SE1L3_HUMAN	T	690;655;537	ENSP00000382767:A690T;ENSP00000264868:A655T;ENSP00000425438:A537T	ENSP00000264868:A655T	A	-	1	0	SEL1L3	25401183	0.980000	0.34600	0.960000	0.40013	0.921000	0.55340	4.251000	0.58778	2.563000	0.86464	0.557000	0.71058	GCA		0.428	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		23	25	0	0	0	1	0	23	25				
PPP2CA	5515	broad.mit.edu	37	5	133541666	133541666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133541666C>T	ENST00000481195.1	-	2	539	c.259G>A	c.(259-261)Gtt>Att	p.V87I	CTD-2410N18.5_ENST00000519718.1_Intron|PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000609383.1_3'UTR|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Missense_Mutation_p.V437I	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	87					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CCTCTGTCAACATAATCTCCC	0.373																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(259-261)Gtt>Att		protein phosphatase 2, catalytic subunit, alpha isozyme							119.0	112.0	115.0					5																	133541666		2203	4300	6503	SO:0001583	missense	5515							g.chr5:133541666C>T		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.259G>A	5.37:g.133541666C>T	ENSP00000418447:p.Val87Ile					PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000518409.1_5'UTR	p.V87I	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	539	-								P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	c.259G>A	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450643	0.96205	.	.	ENSG00000113575	ENST00000481195;ENST00000522385;ENST00000523082	T;T;T	0.09630	2.96;2.96;2.96	5.34	5.34	0.76211	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.968	T	0.71820	-0.4477	10	0.87932	D	0	-8.2429	19.3944	0.94601	0.0:1.0:0.0:0.0	.	437;87	B7Z2C5;P67775	.;PP2AA_HUMAN	I	87;22;74	ENSP00000418447:V87I;ENSP00000430869:V22I;ENSP00000428816:V74I	ENSP00000418447:V87I	V	-	1	0	PPP2CA	133569565	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.665000	0.90641	0.591000	0.81541	GTT		0.373	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		5	54	0	0	0	1	0	5	54				
NUB1	51667	broad.mit.edu	37	7	151065934	151065934	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151065934C>T	ENST00000355851.4	+	11	1286	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	NUB1_ENST00000566856.1_Silent_p.N403N|NUB1_ENST00000568733.1_Silent_p.N427N|NUB1_ENST00000413040.2_Silent_p.N427N	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	403	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGATGGGAACGTGGATCATG	0.473																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(1279-1281)aaC>aaT		negative regulator of ubiquitin-like proteins 1							73.0	74.0	74.0					7																	151065934		1943	4136	6079	SO:0001819	synonymous_variant	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151065934C>T	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1209C>T	7.37:g.151065934C>T						NUB1_ENST00000355851.4_Silent_p.N403N|NUB1_ENST00000413040.2_Silent_p.N427N|NUB1_ENST00000566856.1_Silent_p.N403N	p.N427N			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	11	1347	+			403			NEDD8-binding 1.|UBA 2.		O95422|Q75MR9|Q8IX22|Q9BXR2	Silent	SNP	ENST00000355851.4	37	c.1281C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.344880|1.344880	0.24426|0.24426	.|.	.|.	ENSG00000013374|ENSG00000013374	ENST00000480714|ENST00000460712	.|.	.|.	.|.	5.49|5.49	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	T|T	0.54631|0.54631	0.1870|0.1870	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44452|0.44452	-0.9327|-0.9327	4|4	.|.	.|.	.|.	-8.9721|-8.9721	7.3204|7.3204	0.26523|0.26523	0.0:0.4146:0.0:0.5854|0.0:0.4146:0.0:0.5854	.|.	.|.	.|.	.|.	C|M	7|39	.|.	.|.	R|T	+|+	1|2	0|0	NUB1|NUB1	150696867|150696867	0.404000|0.404000	0.25328|0.25328	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	-0.660000|-0.660000	0.05317|0.05317	0.207000|0.207000	0.20607|0.20607	0.650000|0.650000	0.86243|0.86243	CGT|ACG		0.473	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		29	76	0	0	0	1	0	29	76				
CALR	811	broad.mit.edu	37	19	13054427	13054427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13054427C>T	ENST00000316448.5	+	8	1110	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	RAD23A_ENST00000541222.1_5'Flank|RAD23A_ENST00000592268.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000586534.1_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	346	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GGCAACGAGACGTGGGGCGTA	0.602																																						ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(1036-1038)aCg>aTg		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						152.0	121.0	131.0					19																	13054427		2203	4300	6503	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13054427C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1037C>T	19.37:g.13054427C>T	ENSP00000320866:p.Thr346Met						p.T346M	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			8	1110	+			346			C-domain.		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.1037C>T	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636018	0.67130	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.54866	0.55	5.6	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);	0.099764	0.64402	D	0.000002	T	0.60547	0.2277	M	0.74258	2.255	0.80722	D	1	P	0.48589	0.912	P	0.48304	0.573	T	0.66304	-0.5957	10	0.66056	D	0.02	-18.9203	13.0251	0.58810	0.0:0.9213:0.0:0.0787	.	346	P27797	CALR_HUMAN	M	346;225	ENSP00000320866:T346M	ENSP00000320866:T346M	T	+	2	0	CALR	12915427	1.000000	0.71417	0.739000	0.30968	0.575000	0.36095	7.638000	0.83328	1.364000	0.46038	0.561000	0.74099	ACG		0.602	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		20	36	0	0	0	1	0	20	36				
CDH23	64072	broad.mit.edu	37	10	73562688	73562688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73562688C>T	ENST00000224721.6	+	53	7536	c.7531C>T	c.(7531-7533)Cgg>Tgg	p.R2511W	CDH23_ENST00000398788.3_Missense_Mutation_p.R266W|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2506	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAATGACTGCCGGCCACAGTT	0.587																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7531-7533)Cgg>Tgg		cadherin-related 23							56.0	58.0	57.0					10																	73562688		2039	4209	6248	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73562688C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7531C>T	10.37:g.73562688C>T	ENSP00000224721:p.Arg2511Trp					CDH23_ENST00000398788.3_Missense_Mutation_p.R266W|CDH23_ENST00000475158.1_3'UTR	p.R2511W	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			53	7536	+			2506			Cadherin 24.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7531C>T		.	.	.	.	.	.	.	.	.	.	C	19.53	3.844484	0.71488	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01787	4.64	5.1	4.14	0.48551	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.07279	0.0184	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.09292	-1.0681	10	0.62326	D	0.03	.	14.3767	0.66884	0.2352:0.7648:0.0:0.0	.	2506;2506	E9PEX1;Q9H251	.;CAD23_HUMAN	W	2511;2506;2509;266	ENSP00000381768:R266W	ENSP00000224721:R2511W	R	+	1	2	CDH23	73232694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.614000	0.54160	2.550000	0.86006	0.643000	0.83706	CGG		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	17	0	0	0	1	0	15	17				
PRKAA1	5562	broad.mit.edu	37	5	40764715	40764715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40764715G>A	ENST00000397128.2	-	8	1344	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	PRKAA1_ENST00000354209.3_Nonsense_Mutation_p.R461*	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	446					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTCTTCCTTCGTACACGCAAA	0.353																																						ENST00000397128.2																			0				breast(1)	1						c.(1336-1338)Cga>Tga		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						121.0	111.0	114.0					5																	40764715		1851	4099	5950	SO:0001587	stop_gained	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40764715G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1336C>T	5.37:g.40764715G>A	ENSP00000380317:p.Arg446*					PRKAA1_ENST00000354209.3_Nonsense_Mutation_p.R461*	p.R446*	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			8	1344	-			446					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Nonsense_Mutation	SNP	ENST00000397128.2	37	c.1336C>T	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	35	5.524322	0.96431	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	.	.	.	6.01	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7712	9.3459	0.38109	0.0657:0.0:0.6802:0.254	.	.	.	.	X	446;461	.	ENSP00000346148:R461X	R	-	1	2	AC008810.1	40800472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.929000	0.56514	1.538000	0.49270	-0.188000	0.12872	CGA		0.353	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		4	48	0	0	0	1	0	4	48				
CYFIP2	26999	broad.mit.edu	37	5	156746812	156746812	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156746812A>G	ENST00000521420.1	+	13	1412	c.1321A>G	c.(1321-1323)Atg>Gtg	p.M441V	CYFIP2_ENST00000377576.3_Missense_Mutation_p.M467V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M271V|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M392V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M141V|CYFIP2_ENST00000347377.6_Missense_Mutation_p.M467V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M467V|CYFIP2_ENST00000442283.2_5'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGGGCAGGATGGAGAGCGT	0.607																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1399-1401)Atg>Gtg		cytoplasmic FMR1 interacting protein 2							104.0	104.0	104.0					5																	156746812		2203	4300	6503	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746812A>G	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1321A>G	5.37:g.156746812A>G	ENSP00000430904:p.Met441Val					CYFIP2_ENST00000541131.1_Missense_Mutation_p.M392V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M271V|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M141V|CYFIP2_ENST00000521420.1_Missense_Mutation_p.M441V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M467V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M467V	p.M467V	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1830	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	467						Missense_Mutation	SNP	ENST00000521420.1	37	c.1399A>G		.	.	.	.	.	.	.	.	.	.	A	19.57	3.852061	0.71719	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.55481	1.735	0.80722	D	1	B;B;P;B;B;B	0.37207	0.128;0.056;0.587;0.065;0.046;0.038	B;B;B;B;B;B	0.38880	0.101;0.141;0.194;0.022;0.025;0.284	T	0.03374	-1.1043	10	0.12430	T	0.62	-40.4892	16.4504	0.83984	1.0:0.0:0.0:0.0	.	331;271;441;467;467;467	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	V	467;271;441;467;467;392;141	ENSP00000325817:M467V;ENSP00000428009:M271V;ENSP00000430904:M441V;ENSP00000313567:M467V;ENSP00000366799:M467V;ENSP00000444645:M392V;ENSP00000403793:M141V	ENSP00000325817:M467V	M	+	1	0	CYFIP2	156679390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.288000	0.96055	2.288000	0.76882	0.533000	0.62120	ATG		0.607	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		4	58	0	0	0	1	0	4	58				
POTEH	23784	broad.mit.edu	37	22	16267041	16267041	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267041G>T	ENST00000343518.6	-	9	1459	c.1408C>A	c.(1408-1410)Ctg>Atg	p.L470M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	470										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGTTAGTCAGGTTTTCTGGG	0.403																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1408-1410)Ctg>Atg		POTE ankyrin domain family, member H							626.0	501.0	539.0					22																	16267041		692	1591	2283	SO:0001583	missense	23784							g.chr22:16267041G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1408C>A	22.37:g.16267041G>T	ENSP00000340610:p.Leu470Met						p.L470M	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			9	1459	-			470					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1408C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	G	8.116	0.779804	0.16120	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.28255	1.62	1.4	-2.79	0.05841	.	.	.	.	.	T	0.32793	0.0841	L	0.34521	1.04	0.09310	N	1	P;D	0.71674	0.911;0.998	P;D	0.75484	0.505;0.986	T	0.20306	-1.0279	9	0.51188	T	0.08	.	0.2299	0.00178	0.3039:0.1869:0.287:0.2222	.	470;433	Q6S545;A6NKF6	POTEH_HUMAN;.	M	433;470	ENSP00000340610:L470M	ENSP00000340610:L470M	L	-	1	2	POTEH	14647041	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-1.835000	0.01692	-1.771000	0.01293	0.184000	0.17185	CTG		0.403	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		30	446	1	0	2.85442e-18	1	3.71821e-18	30	446				
GBA3	57733	broad.mit.edu	37	4	22729372	22729372	+	RNA	SNP	G	G	A	rs370621369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729372G>A	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCAGCGGTCGTAATCTGTCA	0.398													-|||	1	0.000199681	0.0008	0.0	5008	,	,		18132	0.0		0.0	False		,,,				2504	0.0					ENST00000508166.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)		G	,	1,4405		0,1,2202	169.0	164.0	166.0		,	1.6	0.7	4		166	0,8600		0,0,4300	no	intron,intron	GBA3	NM_001128432.1,NM_020973.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,	22729372	1,13005	2203	4300	6503			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729372G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729372G>A						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA		NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN			0	160	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.398	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			66	98	0	0	0	1	0	66	98				
DYNC2H1	79659	broad.mit.edu	37	11	103026221	103026221	+	Silent	SNP	C	C	T	rs377584612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103026221C>T	ENST00000375735.2	+	25	3879	c.3735C>T	c.(3733-3735)gcC>gcT	p.A1245A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.A1245A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1245	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAAAGCTGCCGACCTTAAAG	0.348																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(3733-3735)gcC>gcT		dynein, cytoplasmic 2, heavy chain 1		C	,	4,3620		0,4,1808	54.0	53.0	53.0		3735,3735	0.2	1.0	11		53	0,8150		0,0,4075	no	coding-synonymous,coding-synonymous	DYNC2H1	NM_001080463.1,NM_001377.2	,	0,4,5883	TT,TC,CC		0.0,0.1104,0.034	,	1245/4315,1245/4308	103026221	4,11770	1812	4075	5887	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103026221C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3735C>T	11.37:g.103026221C>T						DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.A1245A	p.A1245A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	25	3879	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1245			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.3735C>T	CCDS53701.1																																																																																				0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		14	17	0	0	0	1	0	14	17				
DNAI1	27019	broad.mit.edu	37	9	34514424	34514424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514424C>T	ENST00000242317.4	+	17	1773	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	534					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATTCCTCGACACCTATGACG	0.557									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1600-1602)gaC>gaT		dynein, axonemal, intermediate chain 1							171.0	154.0	160.0					9																	34514424		2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514424C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1602C>T	9.37:g.34514424C>T							p.D534D	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	17	1773	+	all_epithelial(49;0.244)		534					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.1602C>T	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	7.256	0.604302	0.14002	.	.	ENSG00000122735	ENST00000442556	.	.	.	5.47	2.67	0.31697	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46034	-0.9220	4	.	.	.	.	7.6303	0.28236	0.0:0.7349:0.0:0.2651	.	.	.	.	I	38	.	.	T	+	2	0	DNAI1	34504424	1.000000	0.71417	0.992000	0.48379	0.795000	0.44927	1.331000	0.33793	0.289000	0.22422	-0.254000	0.11334	ACA		0.557	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			8	111	0	0	0	1	0	8	111				
FGF13	2258	broad.mit.edu	37	X	137939699	137939699	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939699G>T	ENST00000441825.2	-	1	142	c.105C>A	c.(103-105)caC>caA	p.H35Q	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Missense_Mutation_p.H64Q	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	203	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCTCTTTGTGGTGTACTTGCT	0.443																																						ENST00000441825.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(103-105)caC>caA		fibroblast growth factor 13							231.0	199.0	209.0					X																	137939699		1568	3582	5150	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137939699G>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000441825.2:c.105C>A	X.37:g.137939699G>T	ENSP00000409276:p.His35Gln					FGF13_ENST00000370603.3_Missense_Mutation_p.H64Q|FGF13_ENST00000541469.1_Intron	p.H35Q	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN			1	142	-	Acute lymphoblastic leukemia(192;0.000127)		203					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000441825.2	37	c.105C>A	CCDS55511.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286239	0.23478	.	.	ENSG00000129682	ENST00000441825;ENST00000370603;ENST00000436198;ENST00000455663;ENST00000448673;ENST00000421460	T;T;T;T	0.80566	-1.17;-1.18;-1.18;-1.39	6.07	4.32	0.51571	.	1.404250	0.03522	N	0.221109	T	0.66147	0.2760	N	0.08118	0	0.26949	N	0.966065	B	0.32573	0.376	B	0.26310	0.068	T	0.52808	-0.8526	10	0.13470	T	0.59	.	13.7565	0.62940	0.087:0.0:0.913:0.0	.	64	B7Z4M7	.	Q	35;64;64;70;64;35	ENSP00000409276:H35Q;ENSP00000359635:H64Q;ENSP00000396198:H64Q;ENSP00000406916:H70Q	ENSP00000359635:H64Q	H	-	3	2	FGF13	137767365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.218000	0.72224	0.689000	0.31550	0.594000	0.82650	CAC		0.443	FGF13-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_004114		10	133	1	0	2.27111e-07	1	2.66951e-07	10	133				
SRCAP	10847	broad.mit.edu	37	16	30722093	30722093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30722093G>A	ENST00000262518.4	+	9	1538	c.1153G>A	c.(1153-1155)Gct>Act	p.A385T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A385T|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.A385T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	385	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCACCCTCTGCTGTCACACA	0.463																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(1153-1155)Gct>Act		Snf2-related CREBBP activator protein							125.0	109.0	114.0					16																	30722093		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30722093G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1153G>A	16.37:g.30722093G>A	ENSP00000262518:p.Ala385Thr					SRCAP_ENST00000344771.4_Missense_Mutation_p.A385T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A385T	p.A385T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		9	1538	+			385			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1153G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	2.487	-0.318371	0.05386	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90676	-2.71;-2.71;-2.71	2.92	0.539	0.17156	.	0.465346	0.16136	N	0.227947	T	0.75939	0.3918	N	0.08118	0	0.20307	N	0.999918	B;B	0.18741	0.03;0.018	B;B	0.18871	0.023;0.01	T	0.60954	-0.7160	10	0.15499	T	0.54	-5.1615	7.3821	0.26862	0.0:0.0:0.4841:0.5159	.	385;385	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	385	ENSP00000262518:A385T;ENSP00000378499:A385T;ENSP00000343042:A385T	ENSP00000262518:A385T	A	+	1	0	SRCAP	30629594	0.448000	0.25681	0.540000	0.28089	0.181000	0.23173	0.450000	0.21762	0.059000	0.16252	-0.262000	0.10625	GCT		0.463	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		25	27	0	0	0	1	0	25	27				
CYP2U1	113612	broad.mit.edu	37	4	108871448	108871448	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108871448C>A	ENST00000332884.6	+	5	1779	c.1504C>A	c.(1504-1506)Cta>Ata	p.L502I	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.L293I	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	502					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGAATTATTCCTAATGTTTGT	0.413																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(1504-1506)Cta>Ata		cytochrome P450, family 2, subfamily U, polypeptide 1							162.0	159.0	160.0					4																	108871448		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108871448C>A	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1504C>A	4.37:g.108871448C>A	ENSP00000333212:p.Leu502Ile					RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.L293I	p.L502I	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	5	1779	+		Hepatocellular(203;0.217)	502					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1504C>A	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281982	0.80692	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.72282	-0.64;-0.64	6.03	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.64676	1.99	0.52501	D	0.999959	P	0.46578	0.88	P	0.51415	0.669	T	0.69209	-0.5205	10	0.31617	T	0.26	.	9.4091	0.38480	0.0:0.7345:0.0:0.2655	.	502	Q7Z449	CP2U1_HUMAN	I	502;459;293	ENSP00000333212:L502I;ENSP00000423667:L293I	ENSP00000333212:L502I	L	+	1	2	CYP2U1	109090897	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.956000	0.49129	0.877000	0.35895	0.555000	0.69702	CTA		0.413	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		9	127	1	0	0.000442599	1	0.00048047	9	127				
GPR63	81491	broad.mit.edu	37	6	97247454	97247454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97247454C>T	ENST00000229955.3	-	2	499	c.154G>A	c.(154-156)Gct>Act	p.A52T	GPR63_ENST00000417980.1_Missense_Mutation_p.A52T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CCAGTGGGAGCCATGGTTTCA	0.448																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(154-156)Gct>Act		G protein-coupled receptor 63							109.0	103.0	105.0					6																	97247454		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247454C>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.154G>A	6.37:g.97247454C>T	ENSP00000229955:p.Ala52Thr					GPR63_ENST00000417980.1_Missense_Mutation_p.A52T	p.A52T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	499	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	52					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.154G>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	5.115	0.206924	0.09704	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.60171	0.21;0.21;0.21	5.15	0.587	0.17439	.	0.619162	0.14973	N	0.287671	T	0.09024	0.0223	N	0.01874	-0.695	0.22066	N	0.999383	B	0.02656	0.0	B	0.01281	0.0	T	0.39563	-0.9608	10	0.20519	T	0.43	-2.7126	6.5699	0.22533	0.0:0.4289:0.1299:0.4413	.	52	Q9BZJ6	GPR63_HUMAN	T	76;52;52;52	ENSP00000393170:A52T;ENSP00000229955:A52T;ENSP00000358273:A52T	ENSP00000229955:A52T	A	-	1	0	GPR63	97354175	0.144000	0.22641	0.998000	0.56505	0.959000	0.62525	-0.282000	0.08445	0.115000	0.18071	0.650000	0.86243	GCT		0.448	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			11	35	0	0	0	1	0	11	35				
CCL27	10850	broad.mit.edu	37	9	34662395	34662395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34662395C>A	ENST00000259631.4	-	2	147	c.89G>T	c.(88-90)aGc>aTc	p.S30I	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	30					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCAGTGCTGGGTGGCAG	0.562																																						ENST00000259631.4																			0				kidney(1)|large_intestine(3)|ovary(1)	5						c.(88-90)aGc>aTc		chemokine (C-C motif) ligand 27							66.0	56.0	60.0					9																	34662395		2203	4300	6503	SO:0001583	missense	10850				cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity	g.chr9:34662395C>A	AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"""Chemokine ligands"", ""Endogenous ligands"""	10626	protein-coding gene	gene with protein product	"""CC chemokine ILC"", ""IL-11 Ralpha-locus chemokine"", ""cutaneous T-cell attracting chemokine"""	604833	"""small inducible cytokine subfamily A (Cys-Cys), member 27"""	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.89G>T	9.37:g.34662395C>A	ENSP00000259631:p.Ser30Ile					CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	p.S30I	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	147	-	all_epithelial(49;0.102)		30						Missense_Mutation	SNP	ENST00000259631.4	37	c.89G>T	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066154	0.55539	.	.	ENSG00000213927	ENST00000259631	T	0.29917	1.55	5.09	3.06	0.35304	Chemokine interleukin-8-like domain (1);	0.229900	0.31257	N	0.007964	T	0.26846	0.0657	L	0.51422	1.61	0.28984	N	0.888433	B	0.31910	0.346	B	0.34301	0.179	T	0.19128	-1.0315	10	0.52906	T	0.07	-13.1956	7.783	0.29077	0.1857:0.6348:0.1795:0.0	.	30	Q9Y4X3	CCL27_HUMAN	I	30	ENSP00000259631:S30I	ENSP00000259631:S30I	S	-	2	0	CCL27	34652395	0.409000	0.25368	0.995000	0.50966	0.786000	0.44442	0.398000	0.20899	1.237000	0.43756	0.557000	0.71058	AGC		0.562	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		9	19	1	0	0.0692343	1	0.0706532	9	19				
MTCH1	23787	broad.mit.edu	37	6	36949430	36949430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949430G>A	ENST00000373627.5	-	2	464	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	MTCH1_ENST00000373616.5_Missense_Mutation_p.P114S|MTCH1_ENST00000538808.1_Intron	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	114					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGGTGGGGGGCATCGGCTCA	0.577																																						ENST00000373627.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(340-342)Ccc>Tcc		mitochondrial carrier 1							54.0	48.0	50.0					6																	36949430		2203	4300	6503	SO:0001583	missense	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36949430G>A	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.340C>T	6.37:g.36949430G>A	ENSP00000362730:p.Pro114Ser					MTCH1_ENST00000373616.5_Missense_Mutation_p.P114S|MTCH1_ENST00000538808.1_Intron	p.P114S	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN			2	464	-			114					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37	c.340C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.044016	0.75732	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373550;ENST00000460219	T;T;T	0.40476	1.03;1.03;1.03	5.1	5.1	0.69264	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000006	T	0.53270	0.1786	L	0.58354	1.805	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.884	D;D;P	0.83275	0.996;0.994;0.457	T	0.56390	-0.7987	10	0.62326	D	0.03	-1.3359	15.4455	0.75225	0.0:0.0:1.0:0.0	.	96;114;114	Q8IW90;Q9NZJ7;Q9NZJ7-2	.;MTCH1_HUMAN;.	S	114;114;50;50;98	ENSP00000362718:P114S;ENSP00000362730:P114S;ENSP00000419739:P98S	ENSP00000338712:P50S	P	-	1	0	MTCH1	37057408	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.720000	0.68470	2.359000	0.80004	0.591000	0.81541	CCC		0.577	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		8	16	0	0	0	1	0	8	16				
KCNJ4	3761	broad.mit.edu	37	22	38823262	38823262	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38823262G>A	ENST00000303592.3	-	2	1134	c.876C>T	c.(874-876)ggC>ggT	p.G292G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	292					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCTCCACCATGCCCTCCAGGA	0.617																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(874-876)ggC>ggT		potassium inwardly-rectifying channel, subfamily J, member 4							63.0	50.0	55.0					22																	38823262		2203	4300	6503	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823262G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.876C>T	22.37:g.38823262G>A						RP3-434P1.6_ENST00000433230.1_RNA	p.G292G	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	1134	-	Melanoma(58;0.0286)		292					Q14D44	Silent	SNP	ENST00000303592.3	37	c.876C>T	CCDS13971.1																																																																																				0.617	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		6	17	0	0	0	1	0	6	17				
C16orf45	89927	broad.mit.edu	37	16	15680614	15680614	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15680614G>A	ENST00000300006.4	+	6	902	c.543G>A	c.(541-543)aaG>aaA	p.K181K	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_3'UTR|C16orf45_ENST00000452191.2_Silent_p.K164K	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	181										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CACCTAGCAAGCCCACGGTGG	0.632																																						ENST00000300006.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.(541-543)aaG>aaA		chromosome 16 open reading frame 45							27.0	25.0	26.0					16																	15680614		2195	4300	6495	SO:0001819	synonymous_variant	89927							g.chr16:15680614G>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.543G>A	16.37:g.15680614G>A						C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_3'UTR|C16orf45_ENST00000452191.2_Silent_p.K164K	p.K181K	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN			6	902	+			181					O00223|O75769|Q8IZ36|Q96H25	Silent	SNP	ENST00000300006.4	37	c.543G>A	CCDS10561.1																																																																																				0.632	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		6	8	0	0	0	1	0	6	8				
PPIP5K2	23262	broad.mit.edu	37	5	102503964	102503964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102503964C>T	ENST00000358359.3	+	19	2760	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L751F|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L751F|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	751					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTATATAGGCTTTCGAAGGC	0.284																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2251-2253)Ctt>Ttt		diphosphoinositol pentakisphosphate kinase 2							95.0	106.0	102.0					5																	102503964		2203	4293	6496	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102503964C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2251C>T	5.37:g.102503964C>T	ENSP00000351126:p.Leu751Phe					PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L751F|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L751F|PPIP5K2_ENST00000513500.1_3'UTR	p.L751F			O43314	VIP2_HUMAN			19	2824	+			751					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.2251C>T		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753062	0.49362	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.46756	0.1409	M	0.79805	2.47	0.51012	D	0.999909	B;B;B	0.25105	0.118;0.018;0.022	B;B;B	0.34301	0.179;0.067;0.076	T	0.41215	-0.9521	10	0.38643	T	0.18	.	14.6031	0.68456	0.1459:0.8541:0.0:0.0	.	751;751;751	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	F	751;751;751;751;25	ENSP00000313070:L751F;ENSP00000351126:L751F;ENSP00000416016:L751F;ENSP00000424948:L25F	ENSP00000313070:L751F	L	+	1	0	PPIP5K2	102531863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.013000	0.70776	2.749000	0.94314	0.460000	0.39030	CTT		0.284	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		44	77	0	0	0	1	0	44	77				
NGEF	25791	broad.mit.edu	37	2	233785012	233785012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233785012C>A	ENST00000264051.3	-	5	1088	c.810G>T	c.(808-810)gaG>gaT	p.E270D	NGEF_ENST00000373552.4_Missense_Mutation_p.E178D|NGEF_ENST00000409079.1_Missense_Mutation_p.E178D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	270	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTTAATCTCCTCGGGCTGTA	0.652																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(808-810)gaG>gaT		neuronal guanine nucleotide exchange factor							45.0	51.0	49.0					2																	233785012		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785012C>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.810G>T	2.37:g.233785012C>A	ENSP00000264051:p.Glu270Asp					NGEF_ENST00000373552.4_Missense_Mutation_p.E178D|NGEF_ENST00000409079.1_Missense_Mutation_p.E178D	p.E270D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	1088	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	270			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.810G>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	C	2.287	-0.363270	0.05103	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	T;T;T	0.29397	1.57;1.57;1.57	5.26	2.18	0.27775	Dbl homology (DH) domain (2);	0.342266	0.33382	N	0.004972	T	0.19406	0.0466	L	0.37800	1.135	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.005;0.004;0.002	T	0.06643	-1.0815	10	0.35671	T	0.21	-24.2204	4.0634	0.09849	0.265:0.4498:0.0:0.2852	.	178;178;270	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	D	270;178;160;178	ENSP00000264051:E270D;ENSP00000362653:E178D;ENSP00000387033:E178D	ENSP00000264051:E270D	E	-	3	2	NGEF	233493256	0.993000	0.37304	0.995000	0.50966	0.052000	0.14988	0.216000	0.17585	0.610000	0.30035	-0.224000	0.12420	GAG		0.652	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		20	31	1	0	2.54575e-18	1	3.31776e-18	20	31				
DSP	1832	broad.mit.edu	37	6	7584793	7584793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7584793G>A	ENST00000379802.3	+	24	7639	c.7298G>A	c.(7297-7299)tGc>tAc	p.C2433Y	DSP_ENST00000418664.2_Missense_Mutation_p.C1834Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2433	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAAGATGCATTAAGGAT	0.413																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7297-7299)tGc>tAc		desmoplakin							96.0	102.0	100.0					6																	7584793		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584793G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7298G>A	6.37:g.7584793G>A	ENSP00000369129:p.Cys2433Tyr					DSP_ENST00000418664.2_Missense_Mutation_p.C1834Y	p.C2433Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7639	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2433			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7298G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646962	0.67358	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.71222	-0.55;-0.55	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	D	0.86020	0.5833	M	0.89840	3.065	0.44995	D	0.998017	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86303	0.1681	10	0.48119	T	0.1	.	19.8471	0.96713	0.0:0.0:1.0:0.0	.	1881;2433	Q4LE79;P15924	.;DESP_HUMAN	Y	2433;1834	ENSP00000369129:C2433Y;ENSP00000396591:C1834Y	ENSP00000369129:C2433Y	C	+	2	0	DSP	7529792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	TGC		0.413	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		14	86	0	0	0	1	0	14	86				
NUP155	9631	broad.mit.edu	37	5	37350344	37350344	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37350344T>C	ENST00000231498.3	-	7	950	c.747A>G	c.(745-747)caA>caG	p.Q249Q	NUP155_ENST00000513532.1_Silent_p.Q249Q|NUP155_ENST00000381843.2_Silent_p.Q190Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	249					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTACATCTTTGGCTAAACC	0.343																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(745-747)caA>caG		nucleoporin 155kDa							131.0	131.0	131.0					5																	37350344		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37350344T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.747A>G	5.37:g.37350344T>C						NUP155_ENST00000381843.2_Silent_p.Q190Q|NUP155_ENST00000513532.1_Silent_p.Q249Q	p.Q249Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	950	-	all_lung(31;0.000137)		249					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.747A>G	CCDS3921.1																																																																																				0.343	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		6	95	0	0	0	1	0	6	95				
NPAT	4863	broad.mit.edu	37	11	108047023	108047023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108047023G>A	ENST00000278612.8	-	12	1187	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	361					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGTTTCATCTGCTAAGACTAT	0.289																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(1081-1083)gCa>gTa		nuclear protein, ataxia-telangiectasia locus							71.0	68.0	69.0					11																	108047023		1790	4055	5845	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108047023G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1082C>T	11.37:g.108047023G>A	ENSP00000278612:p.Ala361Val						p.A361V	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	12	1187	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	361					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1082C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405294	0.42715	.	.	ENSG00000149308	ENST00000278612	T	0.04917	3.53	5.69	2.31	0.28768	.	0.590669	0.17647	N	0.166801	T	0.04952	0.0133	L	0.42245	1.32	0.29891	N	0.825192	B;B	0.14438	0.01;0.01	B;B	0.12156	0.007;0.007	T	0.30504	-0.9976	10	0.19147	T	0.46	-0.809	3.7421	0.08534	0.3144:0.0:0.5036:0.182	.	361;361	B9EG70;Q14207	.;NPAT_HUMAN	V	361	ENSP00000278612:A361V	ENSP00000278612:A361V	A	-	2	0	NPAT	107552233	0.931000	0.31567	0.996000	0.52242	0.996000	0.88848	0.720000	0.25896	0.733000	0.32492	0.563000	0.77884	GCA		0.289	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		24	38	0	0	0	1	0	24	38				
PHF20	51230	broad.mit.edu	37	20	34446286	34446286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34446286G>A	ENST00000374012.3	+	5	532	c.403G>A	c.(403-405)Gct>Act	p.A135T	PHF20_ENST00000439301.1_Missense_Mutation_p.A135T|PHF20_ENST00000481202.1_Intron			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	135	Tudor 2.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATGTCAAAGCTTTTTCCAA	0.303																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(403-405)Gct>Act		PHD finger protein 20							153.0	145.0	148.0					20																	34446286		2202	4298	6500	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34446286G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.403G>A	20.37:g.34446286G>A	ENSP00000363124:p.Ala135Thr					PHF20_ENST00000439301.1_Missense_Mutation_p.A135T|PHF20_ENST00000481202.1_Intron	p.A135T			Q9BVI0	PHF20_HUMAN			5	532	+	Breast(12;0.00631)|all_lung(11;0.0145)		135					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.403G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578461	0.65878	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000;ENST00000449988	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	6.05	1.71	0.24356	Tudor domain (1);	0.232802	0.44902	D	0.000416	T	0.34106	0.0886	L	0.40543	1.245	0.48632	D	0.999685	P	0.47191	0.891	B	0.40066	0.318	T	0.07195	-1.0785	10	0.18276	T	0.48	.	18.5666	0.91119	0.0:0.4454:0.5546:0.0	.	135	Q9BVI0	PHF20_HUMAN	T	135;135;135;135;28	ENSP00000363124:A135T;ENSP00000410373:A135T;ENSP00000341900:A135T;ENSP00000363112:A135T	ENSP00000341900:A135T	A	+	1	0	PHF20	33909700	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.665000	0.37449	0.091000	0.17302	-0.182000	0.12963	GCT		0.303	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		31	73	0	0	0	1	0	31	73				
ZNF653	115950	broad.mit.edu	37	19	11597974	11597974	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11597974C>A	ENST00000293771.5	-	5	1308		c.e5-1		CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCTCCTTCTCTACAGGGTGG	0.652																																					Pancreas(83;980 1446 4542 6441 43352)	ENST00000293771.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						c.e5-1		zinc finger protein 653							62.0	71.0	68.0					19																	11597974		2203	4300	6503	SO:0001630	splice_region_variant	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11597974C>A	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1172-1G>T	19.37:g.11597974C>A						CTC-398G3.6_ENST00000585656.1_Intron		NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN			5	1308	-								Q96AS7	Splice_Site	SNP	ENST00000293771.5	37		CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158886	0.57368	.	.	ENSG00000161914	ENST00000293771	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0824	0.81014	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF653	11458974	0.990000	0.36364	1.000000	0.80357	0.930000	0.56654	2.508000	0.45450	2.157000	0.67596	0.561000	0.74099	.		0.652	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783	Intron	18	58	1	0	1.01871e-10	1	1.25892e-10	18	58				
EPX	8288	broad.mit.edu	37	17	56271114	56271114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56271114C>T	ENST00000225371.5	+	4	496	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	129					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CTGTCCCAGGCCAGTGGCTGT	0.632																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(385-387)gCc>gTc		eosinophil peroxidase							37.0	32.0	34.0					17																	56271114		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56271114C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.386C>T	17.37:g.56271114C>T	ENSP00000225371:p.Ala129Val						p.A129V	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			4	496	+			129					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.386C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619355	0.03663	.	.	ENSG00000121053	ENST00000225371	T	0.70399	-0.48	4.6	3.62	0.41486	.	0.472244	0.23821	N	0.044235	T	0.58409	0.2120	L	0.46157	1.445	0.26345	N	0.977299	B	0.19706	0.038	B	0.16289	0.015	T	0.45131	-0.9282	10	0.25751	T	0.34	-18.2314	7.2355	0.26067	0.0:0.7955:0.0:0.2045	.	129	P11678	PERE_HUMAN	V	129	ENSP00000225371:A129V	ENSP00000225371:A129V	A	+	2	0	EPX	53626113	0.832000	0.29368	1.000000	0.80357	0.529000	0.34654	0.524000	0.22940	1.056000	0.40484	0.442000	0.29010	GCC		0.632	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	12	0	0	0	1	0	4	12				
ADAMTSL1	92949	broad.mit.edu	37	9	18661965	18661965	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18661965C>T	ENST00000380548.4	+	9	1318	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	ADAMTSL1_ENST00000276935.6_Silent_p.L327L|ADAMTSL1_ENST00000380566.4_Silent_p.L327L|ADAMTSL1_ENST00000327883.7_Silent_p.L327L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	327						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGCTACGATCTGAGGAGCAA	0.438																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(979-981)Ctg>Ttg		ADAMTS-like 1							113.0	93.0	99.0					9																	18661965		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18661965C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.979C>T	9.37:g.18661965C>T						ADAMTSL1_ENST00000276935.6_Silent_p.L327L|ADAMTSL1_ENST00000327883.7_Silent_p.L327L|ADAMTSL1_ENST00000380566.4_Silent_p.L327L	p.L327L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	9	1318	+			327					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.979C>T	CCDS47954.1																																																																																				0.438	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			28	41	0	0	0	1	0	28	41				
OR8H2	390151	broad.mit.edu	37	11	55872744	55872744	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55872744A>T	ENST00000313503.1	+	1	226	c.226A>T	c.(226-228)Act>Tct	p.T76S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGTTACTCAACTGTCGTCAC	0.433										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(226-228)Act>Tct		olfactory receptor, family 8, subfamily H, member 2							242.0	240.0	241.0					11																	55872744		2201	4293	6494	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872744A>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.226A>T	11.37:g.55872744A>T	ENSP00000323982:p.Thr76Ser	HNSCC(53;0.14)					p.T76S	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	226	+	Esophageal squamous(21;0.00693)		76					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.226A>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	a	0.108	-1.142126	0.01728	.	.	ENSG00000181767	ENST00000313503	T	0.00388	7.59	3.58	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.662774	0.14048	N	0.344991	T	0.00109	0.0003	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.24368	-1.0162	10	0.02654	T	1	.	7.8202	0.29284	0.7146:0.0:0.0:0.2854	.	76	Q8N162	OR8H2_HUMAN	S	76	ENSP00000323982:T76S	ENSP00000323982:T76S	T	+	1	0	OR8H2	55629320	0.000000	0.05858	0.503000	0.27626	0.691000	0.40173	0.245000	0.18142	1.590000	0.49995	0.362000	0.22060	ACT		0.433	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		146	249	0	0	0	1	0	146	249				
E2F5	1875	broad.mit.edu	37	8	86129663	86129663	+	IGR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86129663G>T	ENST00000416274.2	+	0	1728				C8orf59_ENST00000321777.5_Missense_Mutation_p.N22K|C8orf59_ENST00000431163.2_Missense_Mutation_p.N22K|C8orf59_ENST00000545322.1_Missense_Mutation_p.N22K|C8orf59_ENST00000518562.1_Missense_Mutation_p.N22K|C8orf59_ENST00000518091.1_Missense_Mutation_p.N22K|C8orf59_ENST00000524353.1_Missense_Mutation_p.N22K|C8orf59_ENST00000458398.2_Missense_Mutation_p.N22K|C8orf59_ENST00000417663.2_Missense_Mutation_p.N22K|C8orf59_ENST00000421308.2_Missense_Mutation_p.N22K	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TAGCCTTAAAGTTTTTTTGGC	0.338																																						ENST00000417663.2																			0											c.(64-66)aaC>aaA		chromosome 8 open reading frame 59							198.0	180.0	185.0					8																	86129663		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129663G>T	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129663G>T						C8orf59_ENST00000524353.1_Missense_Mutation_p.N22K|C8orf59_ENST00000518562.1_Missense_Mutation_p.N22K|C8orf59_ENST00000421308.2_Missense_Mutation_p.N22K|C8orf59_ENST00000321777.5_Missense_Mutation_p.N22K|C8orf59_ENST00000431163.2_Missense_Mutation_p.N22K|C8orf59_ENST00000458398.2_Missense_Mutation_p.N22K|C8orf59_ENST00000545322.1_Missense_Mutation_p.N22K|C8orf59_ENST00000518091.1_Missense_Mutation_p.N22K	p.N22K	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			2	137	-			22					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.66C>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559318	0.27827	.	.	ENSG00000176731	ENST00000417663;ENST00000431163;ENST00000421308;ENST00000524353;ENST00000518562;ENST00000518091;ENST00000458398;ENST00000523281;ENST00000321777;ENST00000545322	.	.	.	5.03	3.17	0.36434	.	0.364135	0.27393	N	0.019575	T	0.22475	0.0542	L	0.43152	1.355	0.09310	N	1	B	0.34015	0.435	B	0.28139	0.086	T	0.21655	-1.0239	9	0.51188	T	0.08	0.2618	1.6963	0.02863	0.2507:0.1444:0.4568:0.1481	.	22	E5RFW5	.	K	22	.	ENSP00000319020:N22K	N	-	3	2	C8orf59	86316915	0.001000	0.12720	0.724000	0.30704	0.990000	0.78478	0.441000	0.21611	1.215000	0.43411	0.650000	0.86243	AAC		0.338	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		28	61	1	0	2.49675e-24	1	3.31153e-24	28	61				
OR4A47	403253	broad.mit.edu	37	11	48510670	48510670	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48510670A>G	ENST00000446524.1	+	1	402	c.326A>G	c.(325-327)gAg>gGg	p.E109G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGTGGGTCAGAGGTCTTTCTC	0.463																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(325-327)gAg>gGg		olfactory receptor, family 4, subfamily A, member 47							106.0	96.0	99.0					11																	48510670		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510670A>G	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.326A>G	11.37:g.48510670A>G	ENSP00000412752:p.Glu109Gly						p.E109G	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	402	+			109						Missense_Mutation	SNP	ENST00000446524.1	37	c.326A>G	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	9.448	1.089721	0.20390	.	.	ENSG00000237388	ENST00000446524	T	0.38560	1.13	4.84	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.111762	0.39759	N	0.001268	T	0.52075	0.1712	H	0.94385	3.53	0.30813	N	0.738627	B	0.23377	0.084	B	0.19148	0.024	T	0.58629	-0.7603	10	0.56958	D	0.05	.	8.6231	0.33872	0.9066:0.0:0.0934:0.0	.	109	Q6IF82	O4A47_HUMAN	G	109	ENSP00000412752:E109G	ENSP00000412752:E109G	E	+	2	0	OR4A47	48467246	0.977000	0.34250	0.993000	0.49108	0.182000	0.23217	2.640000	0.46579	0.692000	0.31613	-0.473000	0.04963	GAG		0.463	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		3	100	0	0	0	1	0	3	100				
WIPF1	7456	broad.mit.edu	37	2	175440048	175440048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175440048C>A	ENST00000392547.2	-	4	341	c.242G>T	c.(241-243)gGc>gTc	p.G81V	WIPF1_ENST00000392546.2_Missense_Mutation_p.G81V|WIPF1_ENST00000359761.3_Missense_Mutation_p.G81V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G81V|WIPF1_ENST00000410117.1_Missense_Mutation_p.G81V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G81V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.G81V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	81	Gly-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						acctcctccgccaaatccgcc	0.617																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(241-243)gGc>gTc		WAS/WASL interacting protein family, member 1							66.0	74.0	72.0					2																	175440048		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175440048C>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.242G>T	2.37:g.175440048C>A	ENSP00000376330:p.Gly81Val					WIPF1_ENST00000272746.5_Missense_Mutation_p.G81V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G81V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G81V|WIPF1_ENST00000409415.3_Missense_Mutation_p.G81V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.G81V|WIPF1_ENST00000392546.2_Missense_Mutation_p.G81V	p.G81V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			4	341	-			81			Gly-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.242G>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721443	0.48728	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	D;D;D;D;D;D;T;T;T	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;1.77;-1.49;-1.49	5.04	5.04	0.67666	.	0.297613	0.29246	N	0.012701	D	0.94771	0.8312	L	0.56769	1.78	0.40551	D	0.981116	P;P;P;P	0.44627	0.835;0.839;0.835;0.745	B;B;B;B	0.43728	0.429;0.351;0.429;0.247	D	0.95272	0.8378	10	0.51188	T	0.08	.	18.0073	0.89213	0.0:1.0:0.0:0.0	.	81;81;81;81	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	V	81;81;81;81;81;81;81;78;81;81	ENSP00000376330:G81V;ENSP00000272746:G81V;ENSP00000352802:G81V;ENSP00000376329:G81V;ENSP00000386431:G81V;ENSP00000387150:G81V;ENSP00000391785:G78V;ENSP00000386757:G81V;ENSP00000388454:G81V	ENSP00000272746:G81V	G	-	2	0	WIPF1	175148294	0.023000	0.18921	0.020000	0.16555	0.619000	0.37552	3.086000	0.50159	2.352000	0.79861	0.462000	0.41574	GGC		0.617	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		30	49	1	0	6.38683e-12	1	7.9998e-12	30	49				
PCSK9	255738	broad.mit.edu	37	1	55523723	55523723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55523723A>G	ENST00000302118.5	+	8	1485	c.1195A>G	c.(1195-1197)Atg>Gtg	p.M399V	PCSK9_ENST00000543384.1_Missense_Mutation_p.M199V|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	399	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGCAGCCATGATGCTGTCTGC	0.607																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1195-1197)Atg>Gtg		proprotein convertase subtilisin/kexin type 9							67.0	62.0	64.0					1																	55523723		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523723A>G	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1195A>G	1.37:g.55523723A>G	ENSP00000303208:p.Met399Val					PCSK9_ENST00000543384.1_Missense_Mutation_p.M199V|PCSK9_ENST00000490692.1_3'UTR	p.M399V	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			8	1485	+			399			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1195A>G	CCDS603.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501304	0.26861	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.86497	-2.13;-2.13	4.39	1.75	0.24633	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.282420	0.35207	N	0.003368	T	0.70219	0.3199	N	0.10874	0.06	0.28903	N	0.893142	B	0.32010	0.351	B	0.25614	0.062	T	0.65471	-0.6160	10	0.51188	T	0.08	-15.5121	7.853	0.29466	0.6718:0.2137:0.0:0.1145	.	399	Q8NBP7	PCSK9_HUMAN	V	399;199	ENSP00000303208:M399V;ENSP00000441859:M199V	ENSP00000303208:M399V	M	+	1	0	PCSK9	55296311	1.000000	0.71417	0.862000	0.33874	0.105000	0.19272	1.400000	0.34577	0.600000	0.29862	0.460000	0.39030	ATG		0.607	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		3	58	0	0	0	1	0	3	58				
DFNB59	494513	broad.mit.edu	37	2	179325155	179325155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179325155A>G	ENST00000409117.3	+	6	1104	c.748A>G	c.(748-750)Aat>Gat	p.N250D	DFNB59_ENST00000375129.4_Missense_Mutation_p.N250D	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	250					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CAGGTTGAGAAATATCCTATT	0.343																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(748-750)Aat>Gat		deafness, autosomal recessive 59							95.0	92.0	93.0					2																	179325155		1846	4082	5928	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179325155A>G	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.748A>G	2.37:g.179325155A>G	ENSP00000386647:p.Asn250Asp					DFNB59_ENST00000375129.4_Missense_Mutation_p.N250D	p.N250D	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		6	1104	+			250					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.748A>G	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498146	0.44455	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.58060	0.36;0.36	5.62	5.62	0.85841	.	0.447465	0.19567	U	0.111185	T	0.38134	0.1029	N	0.22421	0.69	0.38750	D	0.954082	B	0.23128	0.08	B	0.22386	0.039	T	0.29366	-1.0014	10	0.13108	T	0.6	-9.1057	14.0435	0.64690	1.0:0.0:0.0:0.0	.	250	Q0ZLH3	PJVK_HUMAN	D	250	ENSP00000386647:N250D;ENSP00000364271:N250D	ENSP00000364271:N250D	N	+	1	0	DFNB59	179033401	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.263000	0.51546	2.138000	0.66242	0.379000	0.24179	AAT		0.343	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			7	50	0	0	0	1	0	7	50				
PDE3B	5140	broad.mit.edu	37	11	14852272	14852272	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14852272A>G	ENST00000282096.4	+	8	2189	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E	PDE3B_ENST00000455098.2_Silent_p.E561E	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	612					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCTCGAAAGAATCATTCAAAC	0.318																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1834-1836)gaA>gaG		phosphodiesterase 3B, cGMP-inhibited							71.0	72.0	72.0					11																	14852272		2200	4294	6494	SO:0001819	synonymous_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14852272A>G	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1836A>G	11.37:g.14852272A>G						PDE3B_ENST00000455098.2_Silent_p.E561E	p.E612E	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			8	2189	+			612					B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.1836A>G	CCDS7817.1																																																																																				0.318	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		17	17	0	0	0	1	0	17	17				
NOTCH1	4851	broad.mit.edu	37	9	139397730	139397730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397730G>A	ENST00000277541.6	-	27	5146	c.5071C>T	c.(5071-5073)Cag>Tag	p.Q1691*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1691					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGAAGCACTGCGAGGAGGCC	0.637			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5071-5073)Cag>Tag		notch 1							60.0	71.0	67.0					9																	139397730		2156	4273	6429	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397730G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5071C>T	9.37:g.139397730G>A	ENSP00000277541:p.Gln1691*	HNSCC(8;0.001)					p.Q1691*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5146	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1691					Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.5071C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	45	12.021919	0.99628	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.95	4.95	0.65309	.	0.058487	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.524	0.87794	0.0:0.0:1.0:0.0	.	.	.	.	X	1691	.	ENSP00000277541:Q1691X	Q	-	1	0	NOTCH1	138517551	1.000000	0.71417	0.943000	0.38184	0.832000	0.47134	4.540000	0.60664	2.457000	0.83068	0.561000	0.74099	CAG		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		12	24	0	0	0	1	0	12	24				
DCAF6	55827	broad.mit.edu	37	1	167962634	167962634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167962634G>A	ENST00000312263.6	+	7	1063	c.859G>A	c.(859-861)Gca>Aca	p.A287T	DCAF6_ENST00000367843.3_Missense_Mutation_p.A287T|DCAF6_ENST00000432587.2_Missense_Mutation_p.A256T|DCAF6_ENST00000367840.3_Missense_Mutation_p.A287T	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	287					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATGATACAGCACGAGAACT	0.448																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(859-861)Gca>Aca		DDB1 and CUL4 associated factor 6							76.0	74.0	75.0					1																	167962634		2203	4298	6501	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167962634G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.859G>A	1.37:g.167962634G>A	ENSP00000311949:p.Ala287Thr					DCAF6_ENST00000367843.3_Missense_Mutation_p.A287T|DCAF6_ENST00000312263.6_Missense_Mutation_p.A287T|DCAF6_ENST00000432587.2_Missense_Mutation_p.A256T	p.A287T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			7	953	+			287					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.859G>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446075	0.96187	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	4.68	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.68593	2.085	0.42328	D	0.992287	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.91635	0.989;0.997;0.998;0.999	D	0.85394	0.1127	9	0.39692	T	0.17	.	18.051	0.89349	0.0:0.0:1.0:0.0	.	256;287;287;287	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	T	287;256;287;287	ENSP00000356817:A287T;ENSP00000396238:A256T;ENSP00000311949:A287T;ENSP00000356814:A287T	ENSP00000311949:A287T	A	+	1	0	DCAF6	166229258	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.119000	0.94362	2.325000	0.78763	0.454000	0.30748	GCA		0.448	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		5	74	0	0	0	1	0	5	74				
ELMO2	63916	broad.mit.edu	37	20	45000096	45000096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45000096G>A	ENST00000290246.6	-	19	1890	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	ELMO2_ENST00000352077.2_Missense_Mutation_p.R564W|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000454865.2_Missense_Mutation_p.R298W|ELMO2_ENST00000372176.1_Missense_Mutation_p.R478W|ELMO2_ENST00000445496.2_Missense_Mutation_p.R383W|ELMO2_ENST00000396391.1_Missense_Mutation_p.R566W|ELMO2_ENST00000439931.2_Missense_Mutation_p.R578W	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	566	PH.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TACCAGAACCGTTCTGGAACA	0.557																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1432-1434)Cgg>Tgg		engulfment and cell motility 2							79.0	75.0	77.0					20																	45000096		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45000096G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1696C>T	20.37:g.45000096G>A	ENSP00000290246:p.Arg566Trp					ELMO2_ENST00000396391.1_Missense_Mutation_p.R566W|ELMO2_ENST00000439931.2_Missense_Mutation_p.R578W|ELMO2_ENST00000445496.2_Missense_Mutation_p.R383W|ELMO2_ENST00000290246.6_Missense_Mutation_p.R566W|ELMO2_ENST00000454865.2_Missense_Mutation_p.R298W|ELMO2_ENST00000352077.2_Missense_Mutation_p.R564W	p.R478W			Q96JJ3	ELMO2_HUMAN			19	1900	-		Myeloproliferative disorder(115;0.0122)	566			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1432C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606216	0.66445	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.45	3.47	0.39725	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.054007	0.64402	D	0.000001	T	0.45155	0.1328	L	0.29908	0.895	0.49389	D	0.999783	D;D;D;D	0.65815	0.99;0.995;0.995;0.991	P;P;P;P	0.58172	0.834;0.753;0.753;0.757	T	0.46512	-0.9186	10	0.87932	D	0	-11.7927	11.5516	0.50723	0.0:0.0:0.647:0.353	.	578;298;383;566	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	W	566;478;133;566;578;383;298;564	ENSP00000290246:R566W;ENSP00000361249:R478W;ENSP00000414329:R133W;ENSP00000379673:R566W;ENSP00000396519:R578W;ENSP00000409920:R383W;ENSP00000415641:R298W;ENSP00000326172:R564W	ENSP00000290246:R566W	R	-	1	2	ELMO2	44433503	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.823000	0.55715	1.165000	0.42670	0.655000	0.94253	CGG		0.557	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		26	30	0	0	0	1	0	26	30				
DHX57	90957	broad.mit.edu	37	2	39053084	39053084	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39053084G>A	ENST00000295373.6	-	16	3045	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	973	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATAAATGGAAGCAGACCCCAG	0.458																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2917-2919)tgC>tgT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							125.0	117.0	120.0					2																	39053084		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053084G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2919C>T	2.37:g.39053084G>A							p.C973C	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			16	3045	-		all_hematologic(82;0.248)	973			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.2919C>T	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339933	0.24339	.	.	ENSG00000163214	ENST00000452978	.	.	.	5.66	4.78	0.61160	.	.	.	.	.	T	0.69214	0.3086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67150	-0.5743	4	.	.	.	.	14.0324	0.64624	0.0721:0.0:0.9279:0.0	.	.	.	.	F	297	.	.	L	-	1	0	DHX57	38906588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.339000	0.65953	2.672000	0.90937	0.555000	0.69702	CTT		0.458	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		23	39	0	0	0	1	0	23	39				
NDNF	79625	broad.mit.edu	37	4	121957735	121957735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:121957735G>A	ENST00000379692.4	-	4	1917	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	464	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CACGGTGGCTGAGGAACAGGT	0.438																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1390-1392)tCa>tTa		neuron-derived neurotrophic factor							139.0	132.0	135.0					4																	121957735		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957735G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1391C>T	4.37:g.121957735G>A	ENSP00000369014:p.Ser464Leu						p.S464L	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1917	-			464			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1391C>T	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558721	0.86231	.	.	ENSG00000173376	ENST00000379692	T	0.59224	0.28	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.72894	2.215	0.80722	D	1	D	0.61697	0.99	P	0.59487	0.858	T	0.75434	-0.3319	10	0.87932	D	0	-17.18	20.5568	0.99304	0.0:0.0:1.0:0.0	.	464	Q8TB73	NDNF_HUMAN	L	464	ENSP00000369014:S464L	ENSP00000369014:S464L	S	-	2	0	NDNF	122177185	1.000000	0.71417	0.695000	0.30226	0.977000	0.68977	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	TCA		0.438	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		7	157	0	0	0	1	0	7	157				
TTN	7273	broad.mit.edu	37	2	179640431	179640431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640431C>T	ENST00000591111.1	-	28	6384	c.6160G>A	c.(6160-6162)Gcc>Acc	p.A2054T	TTN_ENST00000460472.2_Missense_Mutation_p.A2008T|TTN_ENST00000359218.5_Missense_Mutation_p.A2008T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2054T|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2054T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2008T|TTN_ENST00000360870.5_Missense_Mutation_p.A2054T			Q8WZ42	TITIN_HUMAN	titin	12839					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTTCGGCAAGAGCTTTC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6160-6162)Gcc>Acc		titin							157.0	159.0	158.0					2																	179640431		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640431C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6160G>A	2.37:g.179640431C>T	ENSP00000465570:p.Ala2054Thr					TTN_ENST00000460472.2_Missense_Mutation_p.A2008T|TTN_ENST00000360870.5_Missense_Mutation_p.A2054T|TTN_ENST00000342992.6_Missense_Mutation_p.A2054T|TTN_ENST00000359218.5_Missense_Mutation_p.A2008T|TTN_ENST00000342175.6_Missense_Mutation_p.A2008T|TTN_ENST00000591111.1_Missense_Mutation_p.A2054T	p.A2054T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6384	-			1823					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6160G>A		.	.	.	.	.	.	.	.	.	.	C	0.906	-0.720604	0.03182	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63096	-0.02;0.16;0.14;0.13;0.34	5.33	-2.58	0.06228	Ribonuclease H-like (1);	.	.	.	.	T	0.34861	0.0912	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.30973	0.011;0.011;0.011;0.011;0.302	B;B;B;B;B	0.21708	0.005;0.005;0.01;0.01;0.036	T	0.25082	-1.0142	9	0.87932	D	0	.	2.6102	0.04889	0.0935:0.3164:0.2877:0.3024	.	2008;2008;2008;2054;2054	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2054;2008;2008;2008;2008;2054	ENSP00000343764:A2054T;ENSP00000434586:A2008T;ENSP00000340554:A2008T;ENSP00000352154:A2008T;ENSP00000354117:A2054T	ENSP00000340554:A2008T	A	-	1	0	TTN	179348676	0.868000	0.29978	0.008000	0.14137	0.128000	0.20619	1.271000	0.33098	-0.016000	0.14127	-0.140000	0.14226	GCC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	90	0	0	0	1	0	60	90				
RNF31	55072	broad.mit.edu	37	14	24620580	24620580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24620580C>T	ENST00000324103.6	+	9	2049	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	RNF31_ENST00000559275.1_Nonsense_Mutation_p.R426*|RNF31_ENST00000382687.3_Nonsense_Mutation_p.R426*|RP11-468E2.4_ENST00000558468.1_Nonsense_Mutation_p.R52*	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	577	Interaction with RBCK1.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GAGGACCAGGCGAAGGAAGGT	0.577																																						ENST00000558468.1																			0											c.(154-156)Cga>Tga									61.0	69.0	66.0					14																	24620580		2151	4248	6399	SO:0001587	stop_gained	0							g.chr14:24620580C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1729C>T	14.37:g.24620580C>T	ENSP00000315112:p.Arg577*					RNF31_ENST00000382687.3_Nonsense_Mutation_p.R426*|RNF31_ENST00000324103.6_Nonsense_Mutation_p.R577*|RNF31_ENST00000559275.1_Nonsense_Mutation_p.R426*	p.R52*							1	154	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Nonsense_Mutation	SNP	ENST00000324103.6	37	c.154C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755887	0.89843	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	.	.	.	5.42	3.51	0.40186	.	0.508000	0.20157	N	0.098039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2024	8.6687	0.34137	0.3609:0.5137:0.1254:0.0	.	.	.	.	X	577;426	.	ENSP00000315112:R577X	R	+	1	2	RNF31	23690420	0.994000	0.37717	0.989000	0.46669	0.487000	0.33371	0.518000	0.22847	0.750000	0.32877	0.655000	0.94253	CGA		0.577	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		15	15	0	0	0	1	0	15	15				
LACE1	246269	broad.mit.edu	37	6	108687461	108687461	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108687461A>G	ENST00000368977.4	+	6	859	c.673A>G	c.(673-675)Att>Gtt	p.I225V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	225						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGATGCCATGATTCTGAAACA	0.378																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(673-675)Att>Gtt		lactation elevated 1							78.0	74.0	75.0					6																	108687461		2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108687461A>G	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.673A>G	6.37:g.108687461A>G	ENSP00000357973:p.Ile225Val						p.I225V	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	6	859	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	225					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.673A>G	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.46|17.46	3.395411|3.395411	0.62066|0.62066	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000368977|ENST00000421954	.|.	.|.	.|.	5.6|5.6	4.4|4.4	0.53042|0.53042	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.64249|.	0.2581|.	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	D|.	0.55605|.	0.972|.	P|.	0.57548|.	0.823|.	T|.	0.65994|.	-0.6033|.	9|.	0.46703|.	T|.	0.11|.	-14.7031|-14.7031	12.8542|12.8542	0.57876|0.57876	0.8643:0.1357:0.0:0.0|0.8643:0.1357:0.0:0.0	.|.	225|.	Q8WV93|.	LACE1_HUMAN|.	V|W	225|92	.|.	ENSP00000357973:I225V|.	I|X	+|+	1|3	0|0	LACE1|LACE1	108794154|108794154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.910000|8.910000	0.92685|0.92685	2.136000|2.136000	0.66102|0.66102	0.533000|0.533000	0.62120|0.62120	ATT|TGA		0.378	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		3	30	0	0	0	1	0	3	30				
OSBPL7	114881	broad.mit.edu	37	17	45885670	45885670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45885670G>A	ENST00000007414.3	-	23	2707	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A839V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	839					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCAGAGCACGGCCCCATCCAT	0.662																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2515-2517)gCc>gTc		oxysterol binding protein-like 7							39.0	33.0	35.0					17																	45885670		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45885670G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2516C>T	17.37:g.45885670G>A	ENSP00000007414:p.Ala839Val					OSBPL7_ENST00000392507.3_Missense_Mutation_p.A839V	p.A839V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			23	2707	-			839					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.2516C>T	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737325	0.69304	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.17370	2.28;2.28	5.76	5.76	0.90799	.	0.306880	0.32081	N	0.006609	T	0.15089	0.0364	L	0.34521	1.04	0.33401	D	0.577354	P	0.39831	0.69	B	0.36666	0.23	T	0.10800	-1.0614	10	0.19147	T	0.46	-19.1951	18.7306	0.91734	0.0:0.0:1.0:0.0	.	839	Q9BZF2	OSBL7_HUMAN	V	839	ENSP00000007414:A839V;ENSP00000376295:A839V	ENSP00000007414:A839V	A	-	2	0	OSBPL7	43240669	0.910000	0.30920	0.984000	0.44739	0.993000	0.82548	4.140000	0.58031	2.728000	0.93425	0.555000	0.69702	GCC		0.662	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		7	7	0	0	0	1	0	7	7				
ADNP2	22850	broad.mit.edu	37	18	77895757	77895757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77895757C>T	ENST00000262198.4	+	4	2916	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	821					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTGCTCTTTCCCCACCTTGA	0.498																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2461-2463)Ccc>Tcc		ADNP homeobox 2							85.0	84.0	84.0					18																	77895757		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895757C>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2461C>T	18.37:g.77895757C>T	ENSP00000262198:p.Pro821Ser						p.P821S	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2916	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	821					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.2461C>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169201	0.38315	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	T	0.75280	0.3828	L	0.52364	1.645	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.72978	-0.4127	8	.	.	.	-25.0012	18.8853	0.92375	0.0:1.0:0.0:0.0	.	821	Q6IQ32	ADNP2_HUMAN	S	821	.	.	P	+	1	0	ADNP2	75996748	1.000000	0.71417	0.918000	0.36340	0.729000	0.41735	4.811000	0.62606	2.688000	0.91661	0.655000	0.94253	CCC		0.498	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		41	36	0	0	0	1	0	41	36				
LPHN2	23266	broad.mit.edu	37	1	82451005	82451005	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82451005A>G	ENST00000370728.1	+	23	4107	c.3462A>G	c.(3460-3462)tcA>tcG	p.S1154S	LPHN2_ENST00000370723.1_Silent_p.S1156S|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.S1154S|LPHN2_ENST00000271029.4_Silent_p.S1169S|LPHN2_ENST00000370725.1_Silent_p.S1169S|LPHN2_ENST00000394879.1_Silent_p.S1156S|LPHN2_ENST00000370715.1_Silent_p.S1141S|LPHN2_ENST00000359929.3_Silent_p.S1141S|LPHN2_ENST00000319517.6_Silent_p.S1141S|LPHN2_ENST00000370721.1_Silent_p.S1079S|LPHN2_ENST00000335786.5_Silent_p.S1154S|LPHN2_ENST00000370727.1_Silent_p.S1169S|LPHN2_ENST00000370717.2_Silent_p.S1169S			O95490	LPHN2_HUMAN	latrophilin 2	1154					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTTTATCTCAGGTGACATCA	0.294																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3460-3462)tcA>tcG		latrophilin 2							97.0	101.0	100.0					1																	82451005		2203	4296	6499	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82451005A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3462A>G	1.37:g.82451005A>G						LPHN2_ENST00000370727.1_Silent_p.S1169S|LPHN2_ENST00000370715.1_Silent_p.S1141S|LPHN2_ENST00000359929.3_Silent_p.S1141S|LPHN2_ENST00000370717.2_Silent_p.S1169S|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370725.1_Silent_p.S1169S|LPHN2_ENST00000319517.6_Silent_p.S1141S|LPHN2_ENST00000271029.4_Silent_p.S1169S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.S1154S|LPHN2_ENST00000335786.5_Silent_p.S1154S|LPHN2_ENST00000370721.1_Silent_p.S1079S|LPHN2_ENST00000370723.1_Silent_p.S1156S|LPHN2_ENST00000394879.1_Silent_p.S1156S	p.S1154S			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	23	4107	+			1154					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.3462A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.39|10.39	1.335884|1.335884	0.24253|0.24253	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000402328	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|.	.|.	.|.	.|.	T|T	0.63117|0.63117	0.2484|0.2484	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63834|0.63834	-0.6547|-0.6547	4|4	.|.	.|.	.|.	.|.	15.1945|15.1945	0.73075|0.73075	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	R|G	1046|160	.|.	.|.	Q|R	+|+	2|1	0|2	LPHN2|LPHN2	82223593|82223593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.256000|7.256000	0.78350|0.78350	2.053000|2.053000	0.61076|0.61076	0.397000|0.397000	0.26171|0.26171	CAG|AGG		0.294	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		7	92	0	0	0	1	0	7	92				
GABRG1	2565	broad.mit.edu	37	4	46043152	46043152	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46043152A>G	ENST00000295452.4	-	9	1418	c.1251T>C	c.(1249-1251)tgT>tgC	p.C417C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTCAAAGCAACAGAAGAAGC	0.418																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1249-1251)tgT>tgC		gamma-aminobutyric acid (GABA) A receptor, gamma 1							122.0	123.0	122.0					4																	46043152		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043152A>G	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1251T>C	4.37:g.46043152A>G							p.C417C	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1418	-			417					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.1251T>C	CCDS3470.1																																																																																				0.418	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		8	81	0	0	0	1	0	8	81				
SOCS5	9655	broad.mit.edu	37	2	46986948	46986948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46986948C>T	ENST00000306503.5	+	2	1451	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.H427Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	427	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGATCCCTGCATGCCCGAAT	0.498																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1279-1281)Cat>Tat		suppressor of cytokine signaling 5							96.0	96.0	96.0					2																	46986948		2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986948C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1279C>T	2.37:g.46986948C>T	ENSP00000305133:p.His427Tyr					SOCS5_ENST00000394861.2_Missense_Mutation_p.H427Y	p.H427Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1451	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	427			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1279C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383478	0.61845	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.92048	-2.96;-2.96	5.43	5.43	0.79202	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98505	1.0616	10	0.87932	D	0	-25.5709	19.0206	0.92912	0.0:1.0:0.0:0.0	.	427	O75159	SOCS5_HUMAN	Y	427	ENSP00000305133:H427Y;ENSP00000378330:H427Y	ENSP00000305133:H427Y	H	+	1	0	SOCS5	46840452	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	CAT		0.498	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			5	100	0	0	0	1	0	5	100				
GABRD	2563	broad.mit.edu	37	1	1961455	1961455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1961455C>A	ENST00000378585.4	+	9	1176	c.1093C>A	c.(1093-1095)Ctc>Atc	p.L365I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	365					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTCTTCTCCCTCTCTGCTGC	0.692																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1093-1095)Ctc>Atc		gamma-aminobutyric acid (GABA) A receptor, delta							48.0	47.0	47.0					1																	1961455		2202	4287	6489	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961455C>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1093C>A	1.37:g.1961455C>A	ENSP00000367848:p.Leu365Ile						p.L365I	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1176	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	365					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.1093C>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215519	0.58452	.	.	ENSG00000187730	ENST00000378585	D	0.85411	-1.98	3.82	2.9	0.33743	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.084143	0.49305	D	0.000146	D	0.86764	0.6011	L	0.41236	1.265	0.46521	D	0.999085	D	0.76494	0.999	D	0.80764	0.994	D	0.84699	0.0727	10	0.44086	T	0.13	-27.2201	9.1954	0.37224	0.0:0.8967:0.0:0.1033	.	365	O14764	GBRD_HUMAN	I	365	ENSP00000367848:L365I	ENSP00000367848:L365I	L	+	1	0	GABRD	1951315	1.000000	0.71417	0.978000	0.43139	0.901000	0.52897	4.279000	0.58953	0.958000	0.37956	0.491000	0.48974	CTC		0.692	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		7	29	1	0	3.09899e-07	1	3.63227e-07	7	29				
RYR2	6262	broad.mit.edu	37	1	237872343	237872343	+	Missense_Mutation	SNP	G	G	A	rs374584820		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237872343G>A	ENST00000366574.2	+	69	10404	c.10087G>A	c.(10087-10089)Gcc>Acc	p.A3363T	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.A3361T|RYR2_ENST00000542537.1_Missense_Mutation_p.A3347T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3363					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCACACTGGCCAGAGATCT	0.473																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10087-10089)Gcc>Acc		ryanodine receptor 2 (cardiac)							92.0	90.0	90.0					1																	237872343		1923	4133	6056	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237872343G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10087G>A	1.37:g.237872343G>A	ENSP00000355533:p.Ala3363Thr					RYR2_ENST00000542537.1_Missense_Mutation_p.A3347T|RYR2_ENST00000360064.6_Missense_Mutation_p.A3361T	p.A3363T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		69	10404	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3363					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10087G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285894	0.59867	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96554	-4.05;-4.02;-4.04	5.51	5.51	0.81932	.	0.084638	0.47093	D	0.000256	D	0.88749	0.6521	N	0.08118	0	0.80722	D	1	P	0.35174	0.488	B	0.29862	0.108	D	0.87641	0.2522	10	0.48119	T	0.1	-11.8586	8.715	0.34405	0.0755:0.0:0.7733:0.1513	.	3363	Q92736	RYR2_HUMAN	T	3363;3361;3347;318	ENSP00000355533:A3363T;ENSP00000353174:A3361T;ENSP00000443798:A3347T	ENSP00000353174:A3361T	A	+	1	0	RYR2	235938966	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.274000	0.51631	2.589000	0.87451	0.655000	0.94253	GCC		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	19	0	0	0	1	0	14	19				
NAMPT	10135	broad.mit.edu	37	7	105925305	105925305	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105925305A>G	ENST00000222553.3	-	1	333	c.26T>C	c.(25-27)tTc>tCc	p.F9S	RP11-22N19.2_ENST00000609281.1_RNA|NAMPT_ENST00000484527.1_5'Flank|NAMPT_ENST00000354289.4_Missense_Mutation_p.F9S	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	9					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGGATGTTGAACTCGGCTTC	0.692																																						ENST00000222553.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(25-27)tTc>tCc		nicotinamide phosphoribosyltransferase							15.0	14.0	14.0					7																	105925305		2184	4283	6467	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105925305A>G	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.26T>C	7.37:g.105925305A>G	ENSP00000222553:p.Phe9Ser					NAMPT_ENST00000354289.4_Missense_Mutation_p.F9S	p.F9S	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN			1	333	-			9					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.26T>C	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225410	0.58668	.	.	ENSG00000105835	ENST00000222553;ENST00000354289;ENST00000424768;ENST00000417537	.	.	.	3.35	3.35	0.38373	.	0.103861	0.64402	D	0.000002	T	0.53318	0.1789	L	0.31664	0.95	0.49483	D	0.999791	D;P	0.54601	0.967;0.78	D;B	0.63033	0.91;0.179	T	0.44034	-0.9354	9	0.20046	T	0.44	-10.8405	11.0174	0.47698	1.0:0.0:0.0:0.0	.	9;9	B7Z8W6;P43490	.;NAMPT_HUMAN	S	9	.	ENSP00000222553:F9S	F	-	2	0	NAMPT	105712541	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.425000	0.59875	1.541000	0.49316	0.402000	0.26972	TTC		0.692	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		5	5	0	0	0	1	0	5	5				
ITGAD	3681	broad.mit.edu	37	16	31418855	31418855	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31418855A>G	ENST00000389202.2	+	8	773	c.724A>G	c.(724-726)Aag>Gag	p.K242E	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	242	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATTTCATCATAAGAATGGGGC	0.473																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(724-726)Aag>Gag		integrin, alpha D							84.0	81.0	82.0					16																	31418855		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31418855A>G	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.724A>G	16.37:g.31418855A>G	ENSP00000373854:p.Lys242Glu						p.K242E	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			8	773	+			242			VWFA.		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.724A>G	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	a	7.658	0.684268	0.14907	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	D	0.82893	-1.66	5.3	-0.392	0.12442	von Willebrand factor, type A (3);	.	.	.	.	T	0.61299	0.2336	N	0.11341	0.13	0.09310	N	1	B;B;B	0.22683	0.073;0.003;0.003	B;B;B	0.25987	0.065;0.026;0.026	T	0.48364	-0.9042	9	0.17832	T	0.49	.	2.4276	0.04463	0.5815:0.1238:0.1734:0.1213	.	242;258;242	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	E	106;258;242	ENSP00000373854:K242E	ENSP00000323325:K106E	K	+	1	0	ITGAD	31326356	0.000000	0.05858	0.102000	0.21198	0.187000	0.23431	-0.340000	0.07821	0.248000	0.21435	0.401000	0.26515	AAG		0.473	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		3	76	0	0	0	1	0	3	76				
THRA	7067	broad.mit.edu	37	17	38245666	38245666	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38245666T>C	ENST00000264637.4	+	9	1690				THRA_ENST00000584985.1_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F397S|THRA_ENST00000394121.4_Intron|THRA_ENST00000450525.2_Missense_Mutation_p.F397S	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha						cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACCGAACTCTTCCCCCCACTC	0.622																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1189-1191)tTc>tCc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						83.0	77.0	79.0					17																	38245666		2203	4300	6503	SO:0001627	intron_variant	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38245666T>C	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1110+80T>C	17.37:g.38245666T>C						THRA_ENST00000394121.4_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F397S|THRA_ENST00000584985.1_Intron|THRA_ENST00000264637.4_Intron	p.F397S	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			9	1681	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	0					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1190T>C	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	t	13.65	2.301121	0.40694	.	.	ENSG00000126351	ENST00000450525;ENST00000546243	D;D	0.94184	-3.37;-3.37	4.72	3.65	0.41850	.	.	.	.	.	D	0.82917	0.5141	N	0.08118	0	0.40248	D	0.978031	B	0.06786	0.001	B	0.08055	0.003	T	0.73802	-0.3868	8	.	.	.	.	9.1938	0.37215	0.0:0.0875:0.0:0.9125	.	397	Q6FH41	.	S	397	ENSP00000395641:F397S;ENSP00000443972:F397S	.	F	+	2	0	THRA	35499192	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.558000	0.82253	0.842000	0.35045	0.392000	0.25879	TTC		0.622	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			13	27	0	0	0	1	0	13	27				
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572																																						ENST00000301286.3																			2	Substitution - Missense(2)	p.G170S(1)|p.G242S(1)	lung(2)	NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(724-726)Ggt>Agt		perilipin 4							145.0	155.0	151.0					19																	4513206		2099	4221	6320	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4513206C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.724G>A	19.37:g.4513206C>T	ENSP00000301286:p.Gly242Ser						p.G242S	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	723	-			242			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.724G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730100	0.69074	.	.	ENSG00000167676	ENST00000301286	T	0.15256	2.44	4.54	4.54	0.55810	.	0.116646	0.38548	N	0.001659	T	0.32852	0.0843	L	0.58428	1.81	0.18873	N	0.999986	D	0.76494	0.999	P	0.60173	0.87	T	0.07616	-1.0763	10	0.87932	D	0	-29.92	12.7755	0.57445	0.0:1.0:0.0:0.0	.	242	Q96Q06	PLIN4_HUMAN	S	242	ENSP00000301286:G242S	ENSP00000301286:G242S	G	-	1	0	PLIN4	4464206	0.000000	0.05858	0.068000	0.19968	0.023000	0.10783	0.243000	0.18106	2.076000	0.62316	0.511000	0.50034	GGT		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		11	110	0	0	0	1	0	11	110				
CCDC7	79741	broad.mit.edu	37	10	33134814	33134814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33134814G>T	ENST00000375030.2	+	17	1755	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	C10orf68_ENST00000375025.4_Missense_Mutation_p.K484N|C10orf68_ENST00000375028.3_Missense_Mutation_p.K424N			Q9H943	CJ068_HUMAN		420										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGACTGATAAGGAATTCTTGG	0.348																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1135-1137)aaG>aaT		chromosome 10 open reading frame 68							69.0	83.0	78.0					10																	33134814		2202	4292	6494	SO:0001583	missense	79741							g.chr10:33134814G>T																												ENST00000375030.2:c.1137G>T	10.37:g.33134814G>T	ENSP00000364170:p.Lys379Asn					C10orf68_ENST00000375028.3_Missense_Mutation_p.K424N|C10orf68_ENST00000375025.4_Missense_Mutation_p.K484N	p.K379N			Q9H943	CJ068_HUMAN			17	1755	+			420					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.1137G>T		.	.	.	.	.	.	.	.	.	.	.	13.05	2.121100	0.37436	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.31510	1.51;1.74;1.49;1.49	1.54	-2.42	0.06542	.	.	.	.	.	T	0.42787	0.1218	M	0.64404	1.975	0.09310	N	1	D;D;D;P	0.61080	0.989;0.968;0.989;0.833	D;D;D;B	0.72625	0.978;0.978;0.978;0.255	T	0.31138	-0.9954	9	0.31617	T	0.26	.	5.44	0.16501	0.5837:0.0:0.4163:0.0	.	401;420;424;379	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	N	420;379;424;484;396	ENSP00000303710:K420N;ENSP00000364170:K379N;ENSP00000364168:K424N;ENSP00000364165:K484N	ENSP00000303710:K420N	K	+	3	2	C10orf68	33174820	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	0.201000	0.17276	-0.745000	0.04772	0.313000	0.20887	AAG		0.348	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			30	61	1	0	4.02929e-09	1	4.87747e-09	30	61				
IGSF10	285313	broad.mit.edu	37	3	151165238	151165238	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165238G>T	ENST00000282466.3	-	4	2530	c.2531C>A	c.(2530-2532)cCt>cAt	p.P844H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	844					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCACAACAGGAGAGAATTC	0.388																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2530-2532)cCt>cAt		immunoglobulin superfamily, member 10							177.0	186.0	183.0					3																	151165238		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165238G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2531C>A	3.37:g.151165238G>T	ENSP00000282466:p.Pro844His						p.P844H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2530	-			844					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2531C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.398992	0.62177	.	.	ENSG00000152580	ENST00000282466	T	0.74947	-0.89	5.21	5.21	0.72293	.	0.000000	0.44097	D	0.000492	T	0.74298	0.3698	N	0.08118	0	0.20307	N	0.999913	D	0.89917	1.0	D	0.70227	0.968	T	0.71988	-0.4426	10	0.87932	D	0	.	17.5175	0.87778	0.0:0.0:1.0:0.0	.	844	Q6WRI0	IGS10_HUMAN	H	844	ENSP00000282466:P844H	ENSP00000282466:P844H	P	-	2	0	IGSF10	152647928	0.842000	0.29525	0.132000	0.22025	0.078000	0.17371	3.301000	0.51842	2.422000	0.82143	0.591000	0.81541	CCT		0.388	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		30	210	1	0	5.60225e-13	1	7.08299e-13	30	210				
RAI14	26064	broad.mit.edu	37	5	34803818	34803818	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34803818A>G	ENST00000265109.3	+	5	545	c.258A>G	c.(256-258)ggA>ggG	p.G86G	RAI14_ENST00000515799.1_Splice_Site_p.G89G|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Splice_Site_p.G86G|RAI14_ENST00000512629.1_Splice_Site_p.G86G|RAI14_ENST00000506376.1_Splice_Site_p.G78G|RAI14_ENST00000397449.1_Splice_Site_p.G79G|RAI14_ENST00000503673.1_Splice_Site_p.G86G	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	86						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					tCCATTTAGGACACAGCGCCT	0.358																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e5-1		retinoic acid induced 14							39.0	38.0	38.0					5																	34803818		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34803818A>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.257-1A>G	5.37:g.34803818A>G						RAI14_ENST00000506376.1_Splice_Site_p.G78_splice|RAI14_ENST00000512629.1_Splice_Site_p.G86_splice|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Splice_Site_p.G86_splice|RAI14_ENST00000515799.1_Splice_Site_p.G89_splice|RAI14_ENST00000397449.1_Splice_Site_p.G79_splice|RAI14_ENST00000503673.1_Splice_Site_p.G86_splice	p.G86_splice	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			5	545	+	all_lung(31;0.000191)		86					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37	c.256_splice	CCDS34142.1																																																																																				0.358	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Silent	6	7	0	0	0	1	0	6	7				
FAM65A	79567	broad.mit.edu	37	16	67572650	67572650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67572650C>T	ENST00000379312.3	+	3	313	c.192C>T	c.(190-192)tcC>tcT	p.S64S	FAM65A_ENST00000422602.2_Silent_p.S80S|FAM65A_ENST00000042381.4_Silent_p.S60S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.S74S|FAM65A_ENST00000540839.3_Silent_p.S80S|FAM65A_ENST00000566522.1_Intron	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	64						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGATGTTTTCCGTGGCTCACC	0.677																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(238-240)tcC>tcT		family with sequence similarity 65, member A							36.0	46.0	42.0					16																	67572650		2171	4253	6424	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67572650C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.192C>T	16.37:g.67572650C>T						FAM65A_ENST00000042381.4_Silent_p.S60S|FAM65A_ENST00000422602.2_Silent_p.S80S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000428437.2_Silent_p.S74S|FAM65A_ENST00000379312.3_Silent_p.S64S	p.S80S			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	4	460	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	64					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.240C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739119	0.49045	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.25	-1.13	0.09775	.	.	.	.	.	T	0.49779	0.1577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34700	-0.9818	4	.	.	.	-17.2567	4.9853	0.14187	0.5243:0.1824:0.0:0.2933	.	.	.	.	C	55	.	.	R	+	1	0	FAM65A	66130151	0.005000	0.15991	0.987000	0.45799	0.957000	0.61999	-1.440000	0.02412	-0.575000	0.05982	0.491000	0.48974	CGT		0.677	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		4	91	0	0	0	1	0	4	91				
APPL1	26060	broad.mit.edu	37	3	57303715	57303715	+	Nonstop_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303715A>C	ENST00000288266.3	+	22	2277	c.2130A>C	c.(2128-2130)taA>taC	p.*710Y	ASB14_ENST00000487349.1_Intron|ASB14_ENST00000389601.3_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	0					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGAAGCATAAGCTTATACTT	0.413																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(2128-2130)taA>taC		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							129.0	125.0	127.0					3																	57303715		2203	4300	6503	SO:0001578	stop_lost	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57303715A>C	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.2130A>C	3.37:g.57303715A>C	ENSP00000288266:p.*710Tyrext*42					ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	p.*710Y	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	22	2277	+			0					Q9P2B9	Nonstop_Mutation	SNP	ENST00000288266.3	37	c.2130A>C	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	9.578	1.122810	0.20959	.	.	ENSG00000157500	ENST00000288266	.	.	.	5.65	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.692	0.51521	0.9305:0.0:0.0695:0.0	.	.	.	.	Y	710	.	.	X	+	3	2	APPL1	57278755	1.000000	0.71417	0.898000	0.35279	0.628000	0.37860	6.790000	0.75115	1.069000	0.40788	0.460000	0.39030	TAA		0.413	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		34	52	0	0	0	1	0	34	52				
FAT4	79633	broad.mit.edu	37	4	126328128	126328128	+	Missense_Mutation	SNP	C	C	T	rs201887525		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126328128C>T	ENST00000394329.3	+	3	5414	c.5401C>T	c.(5401-5403)Cgg>Tgg	p.R1801W	FAT4_ENST00000335110.5_Missense_Mutation_p.R99W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1801	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAACCAGGCGGTTGGACAG	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5401-5403)Cgg>Tgg		FAT atypical cadherin 4		C	TRP/ARG	0,4406		0,0,2203	137.0	128.0	131.0		5401	-7.3	0.0	4		131	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAT4	NM_024582.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1801/4982	126328128	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126328128C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5401C>T	4.37:g.126328128C>T	ENSP00000377862:p.Arg1801Trp					FAT4_ENST00000335110.5_Missense_Mutation_p.R99W	p.R1801W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			3	5414	+			1801			Cadherin 17.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5401C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273317	0.40194	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01787	4.64;4.64	5.37	-7.32	0.01436	Cadherin (4);Cadherin-like (1);	0.000000	0.31784	U	0.007063	T	0.07548	0.0190	M	0.66939	2.045	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.986	T	0.01393	-1.1366	10	0.66056	D	0.02	.	21.0191	0.99944	0.5429:0.4571:0.0:0.0	.	99;1801	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	W	1801;99	ENSP00000377862:R1801W;ENSP00000335169:R99W	ENSP00000335169:R99W	R	+	1	2	FAT4	126547578	0.991000	0.36638	0.000000	0.03702	0.118000	0.20060	0.657000	0.24963	-1.602000	0.01599	-0.824000	0.03097	CGG		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		41	73	0	0	0	1	0	41	73				
RALGPS1	9649	broad.mit.edu	37	9	129937013	129937013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129937013C>T	ENST00000259351.5	+	11	1129	c.862C>T	c.(862-864)Cca>Tca	p.P288S	RALGPS1_ENST00000373434.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000373436.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000394022.3_Missense_Mutation_p.P288S|RALGPS1_ENST00000424082.2_Missense_Mutation_p.P288S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	288	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGAATCGAACCAGGAAGCAG	0.468																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(862-864)Cca>Tca		Ral GEF with PH domain and SH3 binding motif 1							160.0	144.0	150.0					9																	129937013		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129937013C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.862C>T	9.37:g.129937013C>T	ENSP00000259351:p.Pro288Ser					RALGPS1_ENST00000424082.2_Missense_Mutation_p.P288S|RALGPS1_ENST00000394022.3_Missense_Mutation_p.P288S|RALGPS1_ENST00000373436.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000373434.1_Missense_Mutation_p.P288S	p.P288S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			11	1129	+			288			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.862C>T	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853178	0.91355	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373436;ENST00000373434	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.23	5.23	0.72850	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.967	D	0.89074	0.3471	10	0.87932	D	0	.	17.9805	0.89139	0.0:1.0:0.0:0.0	.	288;288;288;288	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	S	288	ENSP00000259351:P288S;ENSP00000415630:P288S;ENSP00000377590:P288S;ENSP00000362535:P288S;ENSP00000362533:P288S	ENSP00000259351:P288S	P	+	1	0	RALGPS1	128976834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.814000	0.75236	2.716000	0.92895	0.655000	0.94253	CCA		0.468	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		53	89	0	0	0	1	0	53	89				
TEAD3	7005	broad.mit.edu	37	6	35446068	35446068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35446068G>A	ENST00000402886.3	-	5	487	c.334C>T	c.(334-336)Cct>Tct	p.P112S	TEAD3_ENST00000338863.7_Missense_Mutation_p.P172S			Q99594	TEAD3_HUMAN	TEA domain family member 3	172					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAGGGTCCAGGCTGCTGTCCC	0.607																																						ENST00000338863.7																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(514-516)Cct>Tct		TEA domain family member 3							32.0	38.0	36.0					6																	35446068		1994	4154	6148	SO:0001583	missense	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35446068G>A	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.334C>T	6.37:g.35446068G>A	ENSP00000384577:p.Pro112Ser					TEAD3_ENST00000402886.3_Missense_Mutation_p.P112S	p.P172S	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN			7	741	-			172			Pro-rich.		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37	c.514C>T		.	.	.	.	.	.	.	.	.	.	g	17.30	3.355576	0.61293	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905;ENST00000433586	T;T;T	0.40225	1.04;1.04;1.04	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	M	0.74467	2.265	0.80722	D	1	B;P;B	0.48089	0.128;0.905;0.004	B;P;B	0.48873	0.056;0.593;0.024	T	0.40664	-0.9551	10	0.41790	T	0.15	-7.8579	15.7618	0.78087	0.0:0.0:1.0:0.0	.	112;188;172	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	S	172;112;188;83	ENSP00000345772:P172S;ENSP00000384577:P112S;ENSP00000416400:P83S	ENSP00000345772:P172S	P	-	1	0	TEAD3	35554046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.538000	0.67193	2.474000	0.83562	0.538000	0.68166	CCT		0.607	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			10	13	0	0	0	1	0	10	13				
COL4A5	1287	broad.mit.edu	37	X	107869006	107869006	+	Missense_Mutation	SNP	G	G	A	rs104886210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107869006G>A	ENST00000361603.2	+	35	3332	c.3088G>A	c.(3088-3090)Ggt>Agt	p.G1030S	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1030S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1030	Triple-helical region.		G -> S (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGAACCATCGGTGATATGGG	0.408									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CM983310	COL4A5	M	rs104886210	c.(3088-3090)Ggt>Agt		collagen, type IV, alpha 5							68.0	63.0	65.0					X																	107869006		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107869006G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3088G>A	X.37:g.107869006G>A	ENSP00000354505:p.Gly1030Ser					COL4A5_ENST00000361603.2_Missense_Mutation_p.G1030S	p.G1030S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			35	3332	+			1030		G -> S (in APSX).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3088G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278678	0.80692	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99329	-5.75;-5.75	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.97011	0.9736	10	0.87932	D	0	.	17.2344	0.86994	0.0:0.0:1.0:0.0	.	1030;638;1030	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	S	1030	ENSP00000331902:G1030S;ENSP00000354505:G1030S	ENSP00000331902:G1030S	G	+	1	0	COL4A5	107755662	1.000000	0.71417	0.875000	0.34327	0.599000	0.36880	9.015000	0.93640	2.250000	0.74265	0.506000	0.49869	GGT		0.408	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			3	39	0	0	0	1	0	3	39				
PPP4C	5531	broad.mit.edu	37	16	30096138	30096138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30096138G>A	ENST00000279387.7	+	8	924	c.756G>A	c.(754-756)acG>acA	p.T252T	PPP4C_ENST00000561610.1_Silent_p.T252T	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	252					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TCAATGAGACGGTGCTCACTG	0.612																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(754-756)acG>acA		protein phosphatase 4, catalytic subunit							167.0	144.0	151.0					16																	30096138		2197	4300	6497	SO:0001819	synonymous_variant	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30096138G>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.756G>A	16.37:g.30096138G>A						PPP4C_ENST00000561610.1_Silent_p.T252T	p.T252T	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			8	924	+			252					P33172	Silent	SNP	ENST00000279387.7	37	c.756G>A	CCDS10669.1																																																																																				0.612	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		48	80	0	0	0	1	0	48	80				
SNX19	399979	broad.mit.edu	37	11	130784470	130784470	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784470C>A	ENST00000265909.4	-	1	1934	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E455D	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	455					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTTGTTCTATCTCCTTGTCTG	0.547																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1363-1365)gaG>gaT		sorting nexin 19							106.0	104.0	105.0					11																	130784470		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784470C>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1365G>T	11.37:g.130784470C>A	ENSP00000265909:p.Glu455Asp					SNX19_ENST00000533214.1_Missense_Mutation_p.E455D|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	p.E455D	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1934	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	455					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1365G>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	1.919	-0.448856	0.04572	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.19669	2.13;2.13	5.1	-6.25	0.02039	.	0.932284	0.09329	N	0.817236	T	0.08846	0.0219	N	0.19112	0.55	0.23546	N	0.997447	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.37103	-0.9720	10	0.16420	T	0.52	-8.0182	4.5723	0.12216	0.1007:0.2744:0.0989:0.526	.	455;455	E9PKB9;Q92543	.;SNX19_HUMAN	D	455	ENSP00000265909:E455D;ENSP00000435390:E455D	ENSP00000265909:E455D	E	-	3	2	SNX19	130289680	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.556000	0.05992	-1.132000	0.02907	-0.145000	0.13849	GAG		0.547	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		7	86	1	0	1.06961e-07	1	1.26574e-07	7	86				
HLA-E	3133	broad.mit.edu	37	6	30459017	30459017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30459017G>A	ENST00000376630.4	+	4	779	c.714G>A	c.(712-714)tgG>tgA	p.W238*		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CACTGACCTGGCAGCAGGATG	0.632																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(712-714)tgG>tgA		major histocompatibility complex, class I, E							110.0	114.0	112.0					6																	30459017		1511	2708	4219	SO:0001587	stop_gained	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30459017G>A	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.714G>A	6.37:g.30459017G>A	ENSP00000365817:p.Trp238*						p.W238*	NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN			4	779	+			238			Alpha-3.|Ig-like C1-type.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Nonsense_Mutation	SNP	ENST00000376630.4	37	c.714G>A	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.853783	0.51270	.	.	ENSG00000204592	ENST00000376630	.	.	.	1.67	1.67	0.24075	.	0.000000	0.39909	U	0.001240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7735	0.23607	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000365817:W238X	W	+	3	0	HLA-E	30566996	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	4.695000	0.61767	1.235000	0.43724	0.462000	0.41574	TGG		0.632	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		31	53	0	0	0	1	0	31	53				
AGBL2	79841	broad.mit.edu	37	11	47707522	47707522	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47707522A>G	ENST00000525123.1	-	11	1996	c.1711T>C	c.(1711-1713)Tgt>Cgt	p.C571R	AGBL2_ENST00000528244.1_Missense_Mutation_p.C533R|AGBL2_ENST00000357610.3_Missense_Mutation_p.C571R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.C571R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	571						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTGTTATTACAGCCATACAGG	0.368																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1711-1713)Tgt>Cgt		ATP/GTP binding protein-like 2							199.0	182.0	188.0					11																	47707522		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47707522A>G		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1711T>C	11.37:g.47707522A>G	ENSP00000435582:p.Cys571Arg					AGBL2_ENST00000528244.1_Missense_Mutation_p.C533R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.C571R|AGBL2_ENST00000298861.4_Missense_Mutation_p.C571R	p.C571R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			11	1996	-			571					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1711T>C	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128822	0.77549	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.06	5.06	0.68205	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.995	T	0.78876	-0.2031	10	0.87932	D	0	-23.9955	15.1094	0.72343	1.0:0.0:0.0:0.0	.	533;533;571	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	R	571;571;571;533	ENSP00000435582:C571R;ENSP00000350228:C571R;ENSP00000298861:C571R;ENSP00000436630:C533R	ENSP00000298861:C571R	C	-	1	0	AGBL2	47664098	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	8.811000	0.91954	2.040000	0.60383	0.402000	0.26972	TGT		0.368	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		4	148	0	0	0	1	0	4	148				
DUSP7	1849	broad.mit.edu	37	3	52088295	52088295	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088295G>A	ENST00000495880.1	-	2	796	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	DUSP7_ENST00000296483.6_Silent_p.L154L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	205	Ser-rich.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCAGGCCCAGCACTGAGGTG	0.637																																						ENST00000495880.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(613-615)Ctg>Ttg		dual specificity phosphatase 7							49.0	54.0	52.0					3																	52088295		2203	4300	6503	SO:0001819	synonymous_variant	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52088295G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.613C>T	3.37:g.52088295G>A						DUSP7_ENST00000296483.6_Silent_p.L154L	p.L205L			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	796	-			205			Ser-rich.		Q2M3J7|Q8NFJ0	Silent	SNP	ENST00000495880.1	37	c.613C>T	CCDS33766.2																																																																																				0.637	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		22	30	0	0	0	1	0	22	30				
CHRM5	1133	broad.mit.edu	37	15	34355303	34355303	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355303T>C	ENST00000383263.5	+	3	1055	c.385T>C	c.(385-387)Tac>Cac	p.Y129H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Y129H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	129					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TTTTGACCGTTACTTTTCCAT	0.532																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(385-387)Tac>Cac		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						107.0	97.0	100.0					15																	34355303		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355303T>C		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.385T>C	15.37:g.34355303T>C	ENSP00000372750:p.Tyr129His					CHRM5_ENST00000557872.1_Missense_Mutation_p.Y129H	p.Y129H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1055	+		all_lung(180;1.76e-08)	129					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.385T>C	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065316	0.76187	.	.	ENSG00000184984	ENST00000383263	D	0.87966	-2.32	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.060333	0.64402	D	0.000002	D	0.94398	0.8198	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95289	0.8393	10	0.87932	D	0	-17.5158	15.8422	0.78857	0.0:0.0:0.0:1.0	.	129	P08912	ACM5_HUMAN	H	129	ENSP00000372750:Y129H	ENSP00000372750:Y129H	Y	+	1	0	CHRM5	32142595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.323000	0.78572	0.528000	0.53228	TAC		0.532	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			4	66	0	0	0	1	0	4	66				
ZNF25	219749	broad.mit.edu	37	10	38241496	38241496	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38241496T>C	ENST00000302609.7	-	6	1142	c.930A>G	c.(928-930)ggA>ggG	p.G310G	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AGGGTTTCTCTCCTGTGTGAC	0.433																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(928-930)ggA>ggG		zinc finger protein 25																																				SO:0001819	synonymous_variant	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241496T>C	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.930A>G	10.37:g.38241496T>C						ZNF25_ENST00000374633.1_5'UTR	p.G310G	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN			6	1142	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	310					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP	ENST00000302609.7	37	c.930A>G	CCDS7195.1																																																																																				0.433	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		8	25	0	0	0	1	0	8	25				
GPR112	139378	broad.mit.edu	37	X	135405204	135405204	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405204A>G	ENST00000394143.1	+	5	629	c.338A>G	c.(337-339)cAc>cGc	p.H113R	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.H50R|GPR112_ENST00000370652.1_Missense_Mutation_p.H113R|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	113					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCCGTCACCACCTGGCTTCA	0.443																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(337-339)cAc>cGc		G protein-coupled receptor 112							179.0	161.0	167.0					X																	135405204		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405204A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.338A>G	X.37:g.135405204A>G	ENSP00000377699:p.His113Arg					GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.H113R|GPR112_ENST00000287534.4_Missense_Mutation_p.H50R|GPR112_ENST00000394141.1_Intron	p.H113R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	629	+	Acute lymphoblastic leukemia(192;0.000127)		113					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.338A>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	2.209	-0.381193	0.05000	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.62232	0.04;0.04;0.04	5.62	-1.76	0.08006	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.48519	0.1504	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34204	-0.9838	9	0.33141	T	0.24	.	6.4259	0.21770	0.5335:0.1278:0.3386:0.0	.	113	Q8IZF6	GP112_HUMAN	R	113;113;50	ENSP00000377699:H113R;ENSP00000359686:H113R;ENSP00000287534:H50R	ENSP00000287534:H50R	H	+	2	0	GPR112	135232870	0.000000	0.05858	0.001000	0.08648	0.184000	0.23303	0.269000	0.18589	-0.313000	0.08728	-0.489000	0.04712	CAC		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			23	182	0	0	0	1	0	23	182				
AASDH	132949	broad.mit.edu	37	4	57220284	57220284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57220284C>A	ENST00000205214.6	-	8	1484	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	AASDH_ENST00000451613.1_Missense_Mutation_p.G435V|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000502617.1_Missense_Mutation_p.G435V|AASDH_ENST00000513376.1_Missense_Mutation_p.G335V|AASDH_ENST00000602986.1_Missense_Mutation_p.G282V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	435					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAAATCTCTCCATCTTTCAC	0.403																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1303-1305)gGa>gTa		aminoadipate-semialdehyde dehydrogenase							96.0	89.0	91.0					4																	57220284		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57220284C>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1304G>T	4.37:g.57220284C>A	ENSP00000205214:p.Gly435Val					AASDH_ENST00000502617.1_Missense_Mutation_p.G435V|AASDH_ENST00000451613.1_Missense_Mutation_p.G435V|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.G335V|AASDH_ENST00000602986.1_Missense_Mutation_p.G282V	p.G435V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			8	1484	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	435					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.1304G>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378205	0.61735	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.95	5.01	0.66863	AMP-dependent synthetase/ligase (1);	0.381153	0.32055	N	0.006642	T	0.81706	0.4879	H	0.94658	3.565	0.58432	D	0.999994	D;P;P;D	0.59767	0.958;0.838;0.644;0.986	P;B;B;P	0.57468	0.719;0.437;0.356;0.821	D	0.84857	0.0817	10	0.87932	D	0	-17.7442	8.0017	0.30301	0.0:0.6686:0.221:0.1105	.	282;435;435;435	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	V	435;335;435;282;435	ENSP00000205214:G435V;ENSP00000423760:G335V;ENSP00000409656:G435V;ENSP00000421171:G435V	ENSP00000205214:G435V	G	-	2	0	AASDH	56915041	0.025000	0.19082	1.000000	0.80357	0.998000	0.95712	0.362000	0.20284	2.819000	0.97034	0.650000	0.86243	GGA		0.403	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		20	38	1	0	3.51602e-12	1	4.4132e-12	20	38				
OBSCN	84033	broad.mit.edu	37	1	228487783	228487783	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487783G>T	ENST00000422127.1	+	43	11703				OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.D4559Y|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.D1249Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCATAGCAGATGCTGGAGA	0.557																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13675-13677)Gat>Tat		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							121.0	99.0	106.0					1																	228487783		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228487783G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+5039G>T	1.37:g.228487783G>T						OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.D1249Y|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	p.D4559Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			51	13749	+		Prostate(94;0.0405)	3602			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13675G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216988	0.58560	.	.	ENSG00000154358	ENST00000366707	T	0.58797	0.31	4.37	4.37	0.52481	.	.	.	.	.	T	0.72993	0.3530	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78201	-0.2296	6	0.87932	D	0	.	17.1074	0.86667	0.0:0.0:1.0:0.0	.	.	.	.	Y	1249	ENSP00000355668:D1249Y	ENSP00000355668:D1249Y	D	+	1	0	OBSCN	226554406	1.000000	0.71417	0.030000	0.17652	0.080000	0.17528	8.579000	0.90781	2.229000	0.72834	0.561000	0.74099	GAT		0.557	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		28	32	1	0	5.45727e-16	1	7.024e-16	28	32				
AVL9	23080	broad.mit.edu	37	7	32615649	32615649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32615649C>T	ENST00000318709.4	+	13	1874	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	AVL9_ENST00000409301.1_Silent_p.S551S|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	551					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGGAACAGCAACAAGCATC	0.398																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1651-1653)agC>agT		AVL9 homolog (S. cerevisiase)							156.0	147.0	150.0					7																	32615649		2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32615649C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1653C>T	7.37:g.32615649C>T						AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Silent_p.S551S	p.S551S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			13	1874	+			551					Q92573	Silent	SNP	ENST00000318709.4	37	c.1653C>T	CCDS34613.1																																																																																				0.398	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		45	128	0	0	0	1	0	45	128				
TFDP3	51270	broad.mit.edu	37	X	132351787	132351787	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351787G>T	ENST00000310125.4	-	1	589	c.501C>A	c.(499-501)gcC>gcA	p.A167A		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	167					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCACGTTTAAGGCATCGTAGG	0.502																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(499-501)gcC>gcA		transcription factor Dp family, member 3							115.0	99.0	104.0					X																	132351787		2203	4300	6503	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351787G>T	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.501C>A	X.37:g.132351787G>T							p.A167A	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	589	-	Acute lymphoblastic leukemia(192;0.000127)		167					Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.501C>A	CCDS14636.2																																																																																				0.502	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		24	45	1	0	2.32416e-17	1	3.01417e-17	24	45				
HKR1	284459	broad.mit.edu	37	19	37854500	37854500	+	Silent	SNP	C	C	T	rs367650192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37854500C>T	ENST00000324411.4	+	6	2072	c.1803C>T	c.(1801-1803)caC>caT	p.H601H	HKR1_ENST00000392153.3_Silent_p.H582H|HKR1_ENST00000544914.1_Silent_p.H328H|HKR1_ENST00000589392.1_Silent_p.H583H|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.H328H|HKR1_ENST00000541583.2_Silent_p.H540H	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	601					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAGCACACGCAGGGGGGA	0.532																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(982-984)caC>caT		HKR1, GLI-Kruppel zinc finger family member		C		0,4406		0,0,2203	68.0	69.0	69.0		1803	1.9	0.9	19		69	1,8599		0,1,4299	no	coding-synonymous	HKR1	NM_181786.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		601/660	37854500	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854500C>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1803C>T	19.37:g.37854500C>T						HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Silent_p.H583H|HKR1_ENST00000392153.3_Silent_p.H582H|HKR1_ENST00000541583.2_Silent_p.H540H|HKR1_ENST00000544914.1_Silent_p.H328H|HKR1_ENST00000324411.4_Silent_p.H601H	p.H328H			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2625	+			601					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.984C>T	CCDS12502.1																																																																																				0.532	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		24	39	0	0	0	1	0	24	39				
DNAH2	146754	broad.mit.edu	37	17	7696355	7696355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696355G>T	ENST00000572933.1	+	48	8861	c.7401G>T	c.(7399-7401)aaG>aaT	p.K2467N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K2467N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2467	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCGAACCAAGGGTGTCTACG	0.517																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7399-7401)aaG>aaT		dynein, axonemal, heavy chain 2							141.0	120.0	127.0					17																	7696355		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696355G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7401G>T	17.37:g.7696355G>T	ENSP00000458355:p.Lys2467Asn					DNAH2_ENST00000389173.2_Missense_Mutation_p.K2467N	p.K2467N			Q9P225	DYH2_HUMAN			48	8861	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2467			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7401G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174793	0.57692	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.17691	2.26	4.49	2.51	0.30379	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.46964	0.1420	H	0.94925	3.6	0.80722	D	1	D	0.54397	0.966	D	0.64687	0.928	T	0.52555	-0.8560	10	0.56958	D	0.05	.	9.4662	0.38813	0.177:0.0:0.823:0.0	.	2467	Q9P225	DYH2_HUMAN	N	2467	ENSP00000373825:K2467N	ENSP00000353818:K2467N	K	+	3	2	DNAH2	7637080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.083000	0.50136	0.533000	0.28675	-0.154000	0.13518	AAG		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		36	31	1	0	6.19805e-25	1	8.23186e-25	36	31				
GTF3C1	2975	broad.mit.edu	37	16	27518325	27518325	+	Silent	SNP	C	C	T	rs148269085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518325C>T	ENST00000356183.4	-	9	1410	c.1395G>A	c.(1393-1395)tcG>tcA	p.S465S	GTF3C1_ENST00000561623.1_Silent_p.S465S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	465					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGGCAGAAGCGACTCCTCCT	0.597																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1393-1395)tcG>tcA		general transcription factor IIIC, polypeptide 1, alpha 220kDa		C		0,4394		0,0,2197	73.0	63.0	67.0		1395	-8.1	0.0	16	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GTF3C1	NM_001520.3		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		465/2110	27518325	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27518325C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1395G>A	16.37:g.27518325C>T						GTF3C1_ENST00000561623.1_Silent_p.S465S	p.S465S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			9	1410	-			465					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.1395G>A	CCDS32414.1																																																																																				0.597	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		18	25	0	0	0	1	0	18	25				
MTMR3	8897	broad.mit.edu	37	22	30416681	30416681	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416681C>T	ENST00000401950.2	+	17	3375	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.S1011S|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.S1011S|MTMR3_ENST00000323630.5_Silent_p.S875S|MTMR3_ENST00000406629.1_Silent_p.S1011S	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1011					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACCAGCCTTCCCGCAGCCACC	0.572																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(3031-3033)tcC>tcT		myotubularin related protein 3							68.0	53.0	58.0					22																	30416681		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416681C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3033C>T	22.37:g.30416681C>T						MTMR3_ENST00000323630.5_Silent_p.S875S|MTMR3_ENST00000406629.1_Silent_p.S1011S|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Silent_p.S1011S|MTMR3_ENST00000401950.2_Silent_p.S1011S	p.S1011S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3361	+			1011					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.3033C>T	CCDS13870.1																																																																																				0.572	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		14	16	0	0	0	1	0	14	16				
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118321149G>A	ENST00000369221.2	+	12	1362		c.e12+1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.e12+1		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						99.0	98.0	98.0					10																	118321149		2203	4300	6503	SO:0001630	splice_region_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118321149G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1334+1G>A	10.37:g.118321149G>A								NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	12	1362	+								Q5VSQ2	Splice_Site	SNP	ENST00000369221.2	37		CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765860	0.31228	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2471	0.93906	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIP	118311139	1.000000	0.71417	0.986000	0.45419	0.315000	0.28087	4.557000	0.60782	2.847000	0.97988	0.655000	0.94253	.		0.363	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	Intron	7	59	0	0	0	1	0	7	59				
SMARCA4	6597	broad.mit.edu	37	19	11098592	11098592	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11098592C>T	ENST00000429416.3	+	7	1391	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	SMARCA4_ENST00000413806.3_Silent_p.R370R|SMARCA4_ENST00000590574.1_Silent_p.R370R|SMARCA4_ENST00000450717.3_Silent_p.R370R|SMARCA4_ENST00000541122.2_Silent_p.R370R|SMARCA4_ENST00000444061.3_Silent_p.R370R|SMARCA4_ENST00000358026.2_Silent_p.R370R|SMARCA4_ENST00000589677.1_Silent_p.R370R|SMARCA4_ENST00000344626.4_Silent_p.R370R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	370					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCAGGAGCGCGAGTACAGGT	0.662			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1108-1110)cgC>cgT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							21.0	27.0	25.0					19																	11098592		2159	4172	6331	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11098592C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1110C>T	19.37:g.11098592C>T						SMARCA4_ENST00000590574.1_Silent_p.R370R|SMARCA4_ENST00000413806.3_Silent_p.R370R|SMARCA4_ENST00000344626.4_Silent_p.R370R|SMARCA4_ENST00000541122.2_Silent_p.R370R|SMARCA4_ENST00000589677.1_Silent_p.R370R|SMARCA4_ENST00000429416.3_Silent_p.R370R|SMARCA4_ENST00000444061.3_Silent_p.R370R|SMARCA4_ENST00000450717.3_Silent_p.R370R	p.R370R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			6	1394	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	370					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.1110C>T	CCDS12253.1																																																																																				0.662	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		10	4	0	0	0	1	0	10	4				
SLC39A9	55334	broad.mit.edu	37	14	69908929	69908929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908929G>A	ENST00000336643.5	+	3	1027	c.349G>A	c.(349-351)Gtt>Att	p.V117I	SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V117I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.V117I	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	117					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCTGGGCTTCGTTTTCATGTT	0.488																																						ENST00000336643.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(349-351)Gtt>Att		solute carrier family 39, member 9							383.0	322.0	343.0					14																	69908929		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69908929G>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.349G>A	14.37:g.69908929G>A	ENSP00000336887:p.Val117Ile					SLC39A9_ENST00000557046.1_Missense_Mutation_p.V117I|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V117I|SLC39A9_ENST00000555245.1_3'UTR	p.V117I	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	3	1027	+			117					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.349G>A	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471205	0.84533	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.65364	1.41;-0.15;0.93	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	L	0.28344	0.845	0.80722	D	1	P;D;D	0.69078	0.82;0.996;0.997	P;P;P	0.58577	0.566;0.753;0.841	T	0.55373	-0.8151	10	0.10111	T	0.7	-17.1594	19.561	0.95373	0.0:0.0:1.0:0.0	.	117;117;117	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	117	ENSP00000452385:V117I;ENSP00000336887:V117I;ENSP00000451833:V117I	ENSP00000031146:V117I	V	+	1	0	SLC39A9	68978682	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	9.399000	0.97285	2.696000	0.92011	0.655000	0.94253	GTT		0.488	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		18	159	0	0	0	1	0	18	159				
ELFN2	114794	broad.mit.edu	37	22	37770993	37770993	+	Silent	SNP	G	G	A	rs146700910	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770993G>A	ENST00000402918.2	-	3	1367	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	194	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCAGGAAGCCGAAGAGGTCGC	0.647																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(580-582)ttC>ttT		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G		0,4406		0,0,2203	30.0	34.0	33.0		582	1.6	1.0	22	dbSNP_134	33	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous	ELFN2	NM_052906.3		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		194/821	37770993	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770993G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.582C>T	22.37:g.37770993G>A						ELFN2_ENST00000349653.3_Silent_p.F194F|RP1-63G5.5_ENST00000430883.1_RNA	p.F194F	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1367	-	Melanoma(58;0.0574)		194			LRRCT.		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.582C>T	CCDS33642.1																																																																																				0.647	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		13	19	0	0	0	1	0	13	19				
SI	6476	broad.mit.edu	37	3	164739101	164739101	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164739101G>T	ENST00000264382.3	-	27	3232	c.3170C>A	c.(3169-3171)aCt>aAt	p.T1057N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1057	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTCTTCATAAGTACTTATTGG	0.353										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3169-3171)aCt>aAt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						212.0	213.0	212.0					3																	164739101		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739101G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3170C>A	3.37:g.164739101G>T	ENSP00000264382:p.Thr1057Asn	HNSCC(35;0.089)					p.T1057N	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3232	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1057			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3170C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442718	0.12164	.	.	ENSG00000090402	ENST00000264382	T	0.13420	2.59	4.58	2.7	0.31948	Glycoside hydrolase-type carbohydrate-binding (1);	0.389904	0.28595	N	0.014794	T	0.16342	0.0393	L	0.58428	1.81	0.09310	N	1	P	0.42161	0.772	B	0.40228	0.323	T	0.05468	-1.0883	10	0.39692	T	0.17	.	14.3712	0.66840	0.0:0.2823:0.7177:0.0	.	1057	P14410	SUIS_HUMAN	N	1057	ENSP00000264382:T1057N	ENSP00000264382:T1057N	T	-	2	0	SI	166221795	0.989000	0.36119	0.101000	0.21167	0.387000	0.30353	3.601000	0.54059	0.504000	0.28082	-0.291000	0.09656	ACT		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	217	1	0	0.00198382	1	0.00210581	6	217				
ZFYVE21	79038	broad.mit.edu	37	14	104194142	104194142	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104194142G>A	ENST00000311141.2	+	3	283	c.249G>A	c.(247-249)ccG>ccA	p.P83P	ZFYVE21_ENST00000216602.6_Silent_p.P83P|Y_RNA_ENST00000517287.1_RNA	NM_024071.3	NP_076976.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	83						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		AGAAGGTGCCGCTGCGGCGCA	0.662																																						ENST00000216602.6																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(247-249)ccG>ccA		zinc finger, FYVE domain containing 21							51.0	48.0	49.0					14																	104194142		2202	4300	6502	SO:0001819	synonymous_variant	79038					cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding	g.chr14:104194142G>A	AK057816	CCDS9985.1, CCDS55948.1	14q32.33	2011-09-07						"""Zinc fingers, FYVE domain containing"""	20760	protein-coding gene	gene with protein product		613504				21768110	Standard	NM_024071		Approved	MGC2550, ZF21	uc001yod.3	Q9BQ24		ENST00000311141.2:c.249G>A	14.37:g.104194142G>A						ZFYVE21_ENST00000311141.2_Silent_p.P83P	p.P83P	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN		Epithelial(152;0.245)	3	361	+		Melanoma(154;0.226)	83					A8K3A4|Q86T05|Q96LT1	Silent	SNP	ENST00000311141.2	37	c.249G>A	CCDS9985.1																																																																																				0.662	ZFYVE21-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000414616.1	NM_024071		16	26	0	0	0	1	0	16	26				
FRMD4B	23150	broad.mit.edu	37	3	69230239	69230239	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69230239T>C	ENST00000398540.3	-	21	2745	c.2662A>G	c.(2662-2664)Aaa>Gaa	p.K888E	FRMD4B_ENST00000542259.1_Missense_Mutation_p.K834E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.K540E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	888					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGATGTTTTTGGTGATGTGC	0.567																																						ENST00000542259.1																			0				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(2500-2502)Aaa>Gaa		FERM domain containing 4B							96.0	92.0	93.0					3																	69230239		2030	4186	6216	SO:0001583	missense	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230239T>C	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2662A>G	3.37:g.69230239T>C	ENSP00000381549:p.Lys888Glu					FRMD4B_ENST00000398540.3_Missense_Mutation_p.K888E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.K540E	p.K834E			Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	22	2951	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	888					Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	c.2500A>G	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384287	0.82792	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.85556	-2.0;-1.98	5.83	4.66	0.58398	.	0.095984	0.64402	D	0.000002	D	0.90335	0.6976	M	0.68593	2.085	0.47037	D	0.999293	P;D	0.76494	0.952;0.999	B;D	0.66084	0.368;0.941	D	0.90721	0.4635	10	0.87932	D	0	-16.1409	13.2018	0.59772	0.0:0.0:0.133:0.867	.	732;888	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	E	888;834;540	ENSP00000381549:K888E;ENSP00000437658:K834E	ENSP00000381549:K888E	K	-	1	0	FRMD4B	69312929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.962000	0.70364	1.013000	0.39391	0.482000	0.46254	AAA		0.567	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			4	43	0	0	0	1	0	4	43				
SYNPO2L	79933	broad.mit.edu	37	10	75406793	75406793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75406793G>A	ENST00000394810.2	-	4	2766	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P649S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	873	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAGGCGATAGGGCCAGGAGTC	0.572																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2617-2619)Cct>Tct		synaptopodin 2-like							67.0	78.0	75.0					10																	75406793		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406793G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2617C>T	10.37:g.75406793G>A	ENSP00000378289:p.Pro873Ser					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P649S	p.P873S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2766	-	Prostate(51;0.0112)		873			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2617C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.361810	0.01235	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.23348	1.91;2.23	5.08	1.03	0.20045	.	0.449070	0.23418	N	0.048387	T	0.17831	0.0428	L	0.50333	1.59	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.21655	-1.0239	10	0.23302	T	0.38	-1.6857	4.5046	0.11881	0.2157:0.0:0.5192:0.2651	.	873;649	Q9H987;Q9H987-2	SYP2L_HUMAN;.	S	649;873	ENSP00000361964:P649S;ENSP00000378289:P873S	ENSP00000361964:P649S	P	-	1	0	SYNPO2L	75076799	0.001000	0.12720	0.488000	0.27440	0.332000	0.28634	0.170000	0.16663	0.023000	0.15187	0.561000	0.74099	CCT		0.572	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		11	143	0	0	0	1	0	11	143				
CCNB3	85417	broad.mit.edu	37	X	50031781	50031781	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50031781C>T	ENST00000376042.1	+	4	396	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CCNB3_ENST00000276014.7_Splice_Site_p.T33M|CCNB3_ENST00000376038.1_Splice_Site_p.T33M|CCNB3_ENST00000348603.2_Splice_Site_p.T33M			Q8WWL7	CCNB3_HUMAN	cyclin B3	33					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTTTTAGACGGGGGAGAAT	0.438																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.e4-1		cyclin B3							63.0	56.0	58.0					X																	50031781		2203	4300	6503	SO:0001630	splice_region_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50031781C>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.97-1C>T	X.37:g.50031781C>T						CCNB3_ENST00000276014.7_Splice_Site_p.T33_splice|CCNB3_ENST00000376038.1_Splice_Site_p.T33_splice|CCNB3_ENST00000348603.2_Splice_Site_p.T33_splice	p.T33_splice			Q8WWL7	CCNB3_HUMAN			4	396	+	Ovarian(276;0.236)		33					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Splice_Site	SNP	ENST00000376042.1	37	c.96_splice	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776925	0.31411	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000396540;ENST00000276014	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	4.61	-6.16	0.02098	.	.	.	.	.	T	0.04815	0.0130	N	0.14661	0.345	0.09310	N	1	B;B	0.18610	0.029;0.017	B;B	0.06405	0.002;0.001	T	0.39921	-0.9590	8	.	.	.	.	0.8544	0.01179	0.392:0.1151:0.1528:0.3401	.	33;33	Q8WWL7-2;Q8WWL7	.;CCNB3_HUMAN	M	33	ENSP00000365210:T33M;ENSP00000365206:T33M;ENSP00000338682:T33M;ENSP00000276014:T33M	.	T	+	2	0	CCNB3	50048521	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.888000	0.01616	-1.283000	0.02393	-2.438000	0.00212	ACG		0.438	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		Missense_Mutation	11	16	0	0	0	1	0	11	16				
CCDC180	100499483	broad.mit.edu	37	9	100079447	100079447	+	Missense_Mutation	SNP	G	G	A	rs377355984		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100079447G>A	ENST00000357054.1	+	23	2380	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.R482H|CCDC180_ENST00000411667.2_Missense_Mutation_p.R340H|CCDC180_ENST00000529487.1_Missense_Mutation_p.R343H|CCDC180_ENST00000375202.2_Missense_Mutation_p.R343H|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	482						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGCCGCCACCGCTGGCAAGGC	0.622																																						ENST00000375202.2																			0											c.(1027-1029)cGc>cAc		coiled-coil domain containing 180		G	HIS/ARG	0,4406		0,0,2203	45.0	43.0	44.0		1028	3.4	1.0	9		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf174	NM_020893.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	343/1702	100079447	1,13005	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100079447G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1445G>A	9.37:g.100079447G>A	ENSP00000349562:p.Arg482His					CCDC180_ENST00000411667.2_Missense_Mutation_p.R340H|CCDC180_ENST00000395220.1_Missense_Mutation_p.R482H|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.R343H|CCDC180_ENST00000357054.1_Missense_Mutation_p.R482H|CCDC180_ENST00000460482.2_3'UTR	p.R343H							23	2380	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1028G>A		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104040	0.56291	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.28	3.42	0.39159	.	0.518270	0.19306	N	0.117502	T	0.45518	0.1346	M	0.72118	2.19	0.30670	N	0.753529	D;P;P;P	0.89917	1.0;0.552;0.552;0.552	D;B;B;B	0.83275	0.996;0.104;0.104;0.104	T	0.44559	-0.9320	10	0.44086	T	0.13	-6.2558	8.7108	0.34382	0.1864:0.0:0.8136:0.0	.	340;482;343;482	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	H	482;482;343;340;366;343	ENSP00000349562:R482H;ENSP00000378646:R482H;ENSP00000364348:R343H;ENSP00000414000:R340H;ENSP00000434727:R343H	ENSP00000349562:R482H	R	+	2	0	C9orf174	99119268	0.997000	0.39634	1.000000	0.80357	0.922000	0.55478	1.773000	0.38563	1.391000	0.46566	-0.253000	0.11424	CGC		0.622	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		13	32	0	0	0	1	0	13	32				
KIF11	3832	broad.mit.edu	37	10	94399627	94399627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94399627C>A	ENST00000260731.3	+	17	2327	c.2237C>A	c.(2236-2238)cCa>cAa	p.P746Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	746					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACAGAAACCACTTAGTAGT	0.323																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2236-2238)cCa>cAa		kinesin family member 11							95.0	101.0	99.0					10																	94399627		2203	4299	6502	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94399627C>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2237C>A	10.37:g.94399627C>A	ENSP00000260731:p.Pro746Gln						p.P746Q	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			17	2327	+			746					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2237C>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590599	0.46214	.	.	ENSG00000138160	ENST00000260731	T	0.64803	-0.12	5.93	5.02	0.67125	.	0.114854	0.64402	D	0.000011	T	0.60766	0.2294	L	0.29908	0.895	0.40258	D	0.978146	D	0.61697	0.99	P	0.57101	0.813	T	0.56667	-0.7941	10	0.13108	T	0.6	.	13.2456	0.60022	0.0:0.8411:0.1589:0.0	.	746	P52732	KIF11_HUMAN	Q	746	ENSP00000260731:P746Q	ENSP00000260731:P746Q	P	+	2	0	KIF11	94389607	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.925000	0.56484	1.510000	0.48803	0.591000	0.81541	CCA		0.323	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		32	43	1	0	1.06801e-11	1	1.33396e-11	32	43				
MME	4311	broad.mit.edu	37	3	154802023	154802023	+	Nonsense_Mutation	SNP	C	C	T	rs150836510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154802023C>T	ENST00000460393.1	+	2	187	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*|MME_ENST00000462745.1_Nonsense_Mutation_p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	23					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.R23*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GAAGAAACAGCGATGGACTCC	0.433																																						ENST00000460393.1																			1	Substitution - Nonsense(1)	p.R23*(1)	endometrium(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(67-69)Cga>Tga		membrane metallo-endopeptidase	Candoxatril(DB00616)	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	177.0	179.0		67,67,67,67	1.2	0.5	3	dbSNP_134	179	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained	MME	NM_000902.3,NM_007287.2,NM_007288.2,NM_007289.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	23/751,23/751,23/751,23/751	154802023	1,13005	2203	4300	6503	SO:0001587	stop_gained	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154802023C>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.67C>T	3.37:g.154802023C>T	ENSP00000418525:p.Arg23*					MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000462745.1_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*	p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		2	187	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	23					A8K6U6|D3DNJ9|Q3MIX4	Nonsense_Mutation	SNP	ENST00000460393.1	37	c.67C>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640324	0.87859	2.27E-4	0.0	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000382989;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	.	.	.	5.27	1.22	0.21188	.	0.145316	0.47093	D	0.000252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9968	13.6127	0.62088	0.5414:0.4586:0.0:0.0	.	.	.	.	X	23	.	ENSP00000353679:R23X	R	+	1	2	MME	156284717	0.978000	0.34361	0.455000	0.27031	0.894000	0.52154	0.334000	0.19787	0.007000	0.14760	0.591000	0.81541	CGA		0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		39	78	0	0	0	1	0	39	78				
ZBTB49	166793	broad.mit.edu	37	4	4317620	4317620	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4317620C>A	ENST00000337872.4	+	7	1665	c.1544C>A	c.(1543-1545)tCt>tAt	p.S515Y	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGTGGAAAGTCTTTTAATATG	0.463																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1543-1545)tCt>tAt		zinc finger and BTB domain containing 49							86.0	88.0	87.0					4																	4317620		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4317620C>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1544C>A	4.37:g.4317620C>A	ENSP00000338807:p.Ser515Tyr					ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	p.S515Y	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			7	1665	+			515					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1544C>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276194	0.80580	.	.	ENSG00000168826	ENST00000337872	T	0.51574	0.7	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.70168	0.3193	M	0.84846	2.72	0.80722	D	1	P	0.51933	0.949	P	0.57057	0.812	T	0.74788	-0.3546	10	0.87932	D	0	.	19.7691	0.96356	0.0:1.0:0.0:0.0	.	515	Q6ZSB9	ZBT49_HUMAN	Y	515	ENSP00000338807:S515Y	ENSP00000338807:S515Y	S	+	2	0	ZBTB49	4368521	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.619000	0.67729	2.689000	0.91719	0.462000	0.41574	TCT		0.463	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		33	57	1	0	1.06801e-11	1	1.33396e-11	33	57				
SIRT4	23409	broad.mit.edu	37	12	120741693	120741693	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120741693T>C	ENST00000202967.4	+	2	388	c.329T>C	c.(328-330)tTc>tCc	p.F110S	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGAAACTTCGTAGGCTGG	0.577																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(328-330)tTc>tCc		sirtuin 4							57.0	49.0	52.0					12																	120741693		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120741693T>C	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.329T>C	12.37:g.120741693T>C	ENSP00000202967:p.Phe110Ser					SIRT4_ENST00000537892.1_3'UTR	p.F110S	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			2	388	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		110			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.329T>C	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263265	0.59431	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.22134	1.97;1.97	5.39	4.2	0.49525	.	0.094831	0.64402	D	0.000001	T	0.49525	0.1562	M	0.89715	3.055	0.58432	D	0.999999	D	0.63880	0.993	P	0.62089	0.898	T	0.59139	-0.7510	10	0.72032	D	0.01	-20.4319	12.5914	0.56445	0.0:0.0:0.1388:0.8612	.	110	Q9Y6E7	SIRT4_HUMAN	S	51;110	ENSP00000444838:F51S;ENSP00000202967:F110S	ENSP00000202967:F110S	F	+	2	0	SIRT4	119226076	1.000000	0.71417	0.927000	0.36925	0.501000	0.33797	3.680000	0.54641	0.953000	0.37825	0.524000	0.50904	TTC		0.577	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		6	28	0	0	0	1	0	6	28				
TMEM179B	374395	broad.mit.edu	37	11	62556618	62556618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62556618G>A	ENST00000333449.4	+	2	225	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TMEM179B_ENST00000533861.1_Missense_Mutation_p.A74T|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	74						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGGCCTCTTGGCCCTCTACTG	0.602																																						ENST00000333449.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(220-222)Gcc>Acc		transmembrane protein 179B							97.0	86.0	90.0					11																	62556618		2201	4299	6500	SO:0001583	missense	374395					integral to membrane		g.chr11:62556618G>A	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.220G>A	11.37:g.62556618G>A	ENSP00000333697:p.Ala74Thr					TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_Missense_Mutation_p.A74T	p.A74T	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN			2	225	+			74						Missense_Mutation	SNP	ENST00000333449.4	37	c.220G>A	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272800	0.95429	.	.	ENSG00000185475	ENST00000533861;ENST00000333449	.	.	.	5.76	5.76	0.90799	.	0.054437	0.64402	D	0.000001	T	0.77011	0.4068	M	0.66939	2.045	0.46061	D	0.99884	D	0.76494	0.999	D	0.71656	0.974	T	0.78326	-0.2247	9	0.72032	D	0.01	.	15.5343	0.75990	0.0:0.0:1.0:0.0	.	74	Q7Z7N9	T179B_HUMAN	T	74	.	ENSP00000333697:A74T	A	+	1	0	TMEM179B	62313194	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	5.172000	0.65003	2.753000	0.94483	0.556000	0.70494	GCC		0.602	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		38	39	0	0	0	1	0	38	39				
DYNC1H1	1778	broad.mit.edu	37	14	102474581	102474581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102474581C>T	ENST00000360184.4	+	29	6048	c.5884C>T	c.(5884-5886)Cgc>Tgc	p.R1962C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1962	AAA 1. {ECO:0000250}.		R -> C (in MRD13). {ECO:0000269|PubMed:23603762}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGTTCAACCGCCTGGAGGA	0.572																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5884-5886)Cgc>Tgc		dynein, cytoplasmic 1, heavy chain 1							68.0	64.0	65.0					14																	102474581		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102474581C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5884C>T	14.37:g.102474581C>T	ENSP00000348965:p.Arg1962Cys						p.R1962C	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			29	6048	+			1962			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5884C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282651	0.80692	.	.	ENSG00000197102	ENST00000360184	T	0.15256	2.44	5.32	4.31	0.51392	ATPase, AAA+ type, core (1);	0.107611	0.64402	D	0.000005	T	0.60869	0.2302	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77210	-0.2671	10	0.87932	D	0	.	13.2894	0.60262	0.2929:0.7071:0.0:0.0	.	1962	Q14204	DYHC1_HUMAN	C	1962	ENSP00000348965:R1962C	ENSP00000348965:R1962C	R	+	1	0	DYNC1H1	101544334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.110000	0.50352	2.644000	0.89710	0.650000	0.86243	CGC		0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		16	36	0	0	0	1	0	16	36				
ABCA3	21	broad.mit.edu	37	16	2369603	2369603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2369603C>A	ENST00000301732.5	-	8	1552	c.852G>T	c.(850-852)caG>caT	p.Q284H	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q284H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	284					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TTTCCTTCTCCTGCACGACAG	0.607																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(850-852)caG>caT		ATP-binding cassette, sub-family A (ABC1), member 3							73.0	66.0	68.0					16																	2369603		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369603C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.852G>T	16.37:g.2369603C>A	ENSP00000301732:p.Gln284His					ABCA3_ENST00000382381.3_Missense_Mutation_p.Q284H	p.Q284H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			8	1552	-		Ovarian(90;0.17)	284					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.852G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469504	0.04445	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.89939	-2.59	5.6	1.0	0.19881	.	0.182095	0.49305	D	0.000141	T	0.73125	0.3547	N	0.16478	0.41	0.80722	D	1	B;B;B	0.22746	0.074;0.003;0.015	B;B;B	0.23852	0.049;0.021;0.012	T	0.57015	-0.7883	10	0.15499	T	0.54	.	2.4302	0.04470	0.1326:0.4908:0.1293:0.2474	.	284;346;284	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	H	284;346	ENSP00000301732:Q284H	ENSP00000301732:Q284H	Q	-	3	2	ABCA3	2309604	0.931000	0.31567	1.000000	0.80357	0.002000	0.02628	-0.011000	0.12721	0.740000	0.32651	-0.142000	0.14014	CAG		0.607	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		18	33	1	0	5.03518e-11	1	6.25324e-11	18	33				
CD68	968	broad.mit.edu	37	17	7484215	7484215	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7484215G>A	ENST00000250092.6	+	5	973	c.762G>A	c.(760-762)caG>caA	p.Q254Q	AC113189.5_ENST00000573187.1_RNA|CD68_ENST00000380498.6_Splice_Site_p.Q227Q|MPDU1_ENST00000423172.2_5'Flank|AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000396501.4_5'Flank|MPDU1_ENST00000582151.1_5'Flank|MPDU1_ENST00000250124.6_5'Flank|AC113189.5_ENST00000572046.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000417897.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	254			Q -> K (in dbSNP:rs25679). {ECO:0000269|PubMed:7680921}.		cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						CTCCTCCAGAGTGGACATTCT	0.547																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.e5-1		CD68 molecule							92.0	81.0	85.0					17																	7484215		2203	4300	6503	SO:0001630	splice_region_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484215G>A	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.761-1G>A	17.37:g.7484215G>A						CD68_ENST00000380498.6_Splice_Site_p.Q227_splice	p.Q254_splice	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			5	973	+			254		Q -> K (in dbSNP:rs25679).			B4DVT4|Q53HR6|Q53XI3|Q96BI7	Splice_Site	SNP	ENST00000250092.6	37	c.760_splice	CCDS11114.1																																																																																				0.547	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251	Silent	26	31	0	0	0	1	0	26	31				
ACOX2	8309	broad.mit.edu	37	3	58519234	58519234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58519234G>A	ENST00000302819.5	-	5	812	c.521C>T	c.(520-522)gCc>gTc	p.A174V	ACOX2_ENST00000459701.2_Missense_Mutation_p.A174V	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	174					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCCTGGGTGGCTGCGTCATA	0.547											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(520-522)gCc>gTc		acyl-CoA oxidase 2, branched chain							168.0	166.0	167.0					3																	58519234		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58519234G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.521C>T	3.37:g.58519234G>A	ENSP00000307697:p.Ala174Val		OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1031	ACOX2_ENST00000459701.2_Missense_Mutation_p.A174V	p.A174V	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	5	812	-			174					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.521C>T	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810445	0.70797	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	D;D	0.95412	-3.7;-3.7	4.85	3.95	0.45737	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.711627	0.13098	N	0.414000	D	0.92916	0.7746	L	0.38175	1.15	0.34366	D	0.69147	B	0.34061	0.436	B	0.39971	0.315	D	0.92715	0.6186	10	0.41790	T	0.15	-0.2705	10.703	0.45939	0.0:0.135:0.7033:0.1618	.	174	Q99424	ACOX2_HUMAN	V	174	ENSP00000418562:A174V;ENSP00000307697:A174V	ENSP00000307697:A174V	A	-	2	0	ACOX2	58494274	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	5.493000	0.66899	1.095000	0.41419	0.561000	0.74099	GCC		0.547	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			42	60	0	0	0	1	0	42	60				
MTR	4548	broad.mit.edu	37	1	237001797	237001797	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237001797C>T	ENST00000366577.5	+	15	1807	c.1413C>T	c.(1411-1413)agC>agT	p.S471S	MTR_ENST00000535889.1_Silent_p.S471S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	471	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGTCAATAGCATTAGTCTGA	0.458																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(1411-1413)agC>agT		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						205.0	188.0	194.0					1																	237001797		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237001797C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1413C>T	1.37:g.237001797C>T						MTR_ENST00000535889.1_Silent_p.S471S	p.S471S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	15	1807	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	471			Pterin-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.1413C>T	CCDS1614.1																																																																																				0.458	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		40	99	0	0	0	1	0	40	99				
MRAS	22808	broad.mit.edu	37	3	138091848	138091848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138091848C>A	ENST00000289104.4	+	2	770	c.123C>A	c.(121-123)gaC>gaA	p.D41E	MRAS_ENST00000474559.1_Missense_Mutation_p.D41E|MRAS_ENST00000423968.2_Missense_Mutation_p.D41E|MRAS_ENST00000464896.1_Intron	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	41					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGTGCCTGACTATGACCCCA	0.542																																						ENST00000289104.4																			0				kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(121-123)gaC>gaA		muscle RAS oncogene homolog							148.0	149.0	149.0					3																	138091848		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138091848C>A	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.123C>A	3.37:g.138091848C>A	ENSP00000289104:p.Asp41Glu					MRAS_ENST00000423968.2_Missense_Mutation_p.D41E|MRAS_ENST00000474559.1_Missense_Mutation_p.D41E|MRAS_ENST00000464896.1_Intron	p.D41E	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN			2	770	+			41					B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.123C>A	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	C	5.410	0.260818	0.10239	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000474559	T;T;T	0.78595	-1.19;-1.19;-1.19	5.64	4.77	0.60923	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	N	0.05534	-0.03	0.54753	D	0.999988	B	0.02656	0.0	B	0.08055	0.003	T	0.49835	-0.8897	10	0.02654	T	1	.	9.1989	0.37246	0.0:0.8354:0.0:0.1646	.	41	O14807	RASM_HUMAN	E	41	ENSP00000289104:D41E;ENSP00000389682:D41E;ENSP00000418356:D41E	ENSP00000289104:D41E	D	+	3	2	MRAS	139574538	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.676000	0.37565	1.533000	0.49186	-0.224000	0.12420	GAC		0.542	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			18	126	1	0	2.94398e-08	1	3.51695e-08	18	126				
AIMP1	9255	broad.mit.edu	37	4	107253040	107253040	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:107253040G>T	ENST00000442366.1	+	5	655	c.603G>T	c.(601-603)caG>caT	p.Q201H	AIMP1_ENST00000358008.3_Splice_Site_p.Q201H|AIMP1_ENST00000394701.4_Splice_Site_p.Q225H	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	201	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CTCTTGAACAGGTAATCTGTA	0.393																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.e5+1		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							138.0	125.0	129.0					4																	107253040		2203	4300	6503	SO:0001630	splice_region_variant	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107253040G>T	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.603+1G>T	4.37:g.107253040G>T						AIMP1_ENST00000442366.1_Splice_Site_p.Q201_splice|AIMP1_ENST00000358008.3_Splice_Site_p.Q201_splice	p.Q225_splice	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN			5	716	+			201			tRNA-binding.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Splice_Site	SNP	ENST00000442366.1	37	c.675_splice	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195780	0.94960	.	.	ENSG00000164022	ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T	0.25250	1.82;1.82;1.81	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	M	0.84511	2.7	0.80722	D	1	P;B	0.49185	0.92;0.105	P;B	0.51866	0.682;0.046	T	0.57985	-0.7716	10	0.87932	D	0	-12.8301	19.3164	0.94215	0.0:0.0:1.0:0.0	.	158;201	B4DNK3;Q12904	.;AIMP1_HUMAN	H	201;158;201;225	ENSP00000405248:Q201H;ENSP00000350699:Q201H;ENSP00000378191:Q225H	ENSP00000350699:Q201H	Q	+	3	2	AIMP1	107472489	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.237000	0.78164	2.561000	0.86390	0.650000	0.86243	CAG		0.393	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757	Missense_Mutation	43	84	1	0	2.19962e-31	1	2.94966e-31	43	84				
BTAF1	9044	broad.mit.edu	37	10	93784717	93784717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93784717G>A	ENST00000265990.6	+	35	5376	c.5068G>A	c.(5068-5070)Gtt>Att	p.V1690I	BTAF1_ENST00000544642.1_Missense_Mutation_p.V518I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1690	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTCCATTGTTTCCCGGTA	0.373																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(5068-5070)Gtt>Att		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							107.0	102.0	103.0					10																	93784717		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93784717G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5068G>A	10.37:g.93784717G>A	ENSP00000265990:p.Val1690Ile					BTAF1_ENST00000544642.1_Missense_Mutation_p.V518I	p.V1690I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			35	5376	+		Colorectal(252;0.0846)	1690			Helicase C-terminal.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.5068G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359756	0.95854	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.74002	-0.8;-0.8	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81102	-0.1085	10	0.46703	T	0.11	-24.4075	20.4756	0.99175	0.0:0.0:1.0:0.0	.	1690	O14981	BTAF1_HUMAN	I	1690;518;540	ENSP00000265990:V1690I;ENSP00000439924:V518I	ENSP00000265990:V1690I	V	+	1	0	BTAF1	93774697	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.827000	0.99397	2.847000	0.97988	0.655000	0.94253	GTT		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		10	79	0	0	0	1	0	10	79				
OCA2	4948	broad.mit.edu	37	15	28273046	28273046	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28273046C>T	ENST00000354638.3	-	4	641	c.486G>A	c.(484-486)ccG>ccA	p.P162P	OCA2_ENST00000382996.2_Silent_p.P162P|OCA2_ENST00000353809.5_Silent_p.P162P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	162					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCGGATGTGCGGGCTGTCCA	0.622									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(484-486)ccG>ccA		oculocutaneous albinism II							70.0	64.0	66.0					15																	28273046		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28273046C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.486G>A	15.37:g.28273046C>T						OCA2_ENST00000353809.5_Silent_p.P162P|OCA2_ENST00000382996.2_Silent_p.P162P	p.P162P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	4	641	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	162					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.486G>A	CCDS10020.1																																																																																				0.622	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		15	36	0	0	0	1	0	15	36				
HSPH1	10808	broad.mit.edu	37	13	31725128	31725128	+	Silent	SNP	G	G	A	rs144091980		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31725128G>A	ENST00000320027.5	-	7	1208	c.864C>T	c.(862-864)atC>atT	p.I288I	HSPH1_ENST00000380406.5_Silent_p.I247I|HSPH1_ENST00000445273.2_Silent_p.I290I|HSPH1_ENST00000380405.4_Silent_p.I288I|HSPH1_ENST00000429785.2_Silent_p.I107I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	288					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TAAAGCATTCGATATTCAGTG	0.373																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(862-864)atC>atT		heat shock 105kDa/110kDa protein 1		G		0,4404		0,0,2202	129.0	117.0	121.0		864	-11.4	0.1	13	dbSNP_134	121	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	HSPH1	NM_006644.2		0,4,6498	AA,AG,GG		0.0465,0.0,0.0308		288/859	31725128	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31725128G>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.864C>T	13.37:g.31725128G>A						HSPH1_ENST00000380406.5_Silent_p.I247I|HSPH1_ENST00000429785.2_Silent_p.I107I|HSPH1_ENST00000380405.4_Silent_p.I288I|HSPH1_ENST00000445273.2_Silent_p.I290I	p.I288I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	7	1208	-		Lung SC(185;0.0257)	288					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.864C>T	CCDS9340.1																																																																																				0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			12	34	0	0	0	1	0	12	34				
TMEM156	80008	broad.mit.edu	37	4	38995560	38995560	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38995560C>A	ENST00000381938.3	-	3	524	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	139						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTTAAAGTGCTGACAAGGTG	0.358																																						ENST00000381938.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(415-417)caG>caT		transmembrane protein 156							138.0	134.0	136.0					4																	38995560		2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:38995560C>A	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.417G>T	4.37:g.38995560C>A	ENSP00000371364:p.Gln139His						p.Q139H	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN			3	524	-			139					Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.417G>T	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974049	0.34848	.	.	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.26067	1.76;1.76	5.21	-0.0734	0.13735	.	0.844607	0.10466	N	0.671337	T	0.30039	0.0752	L	0.46157	1.445	0.26885	N	0.96746	D	0.59767	0.986	P	0.55999	0.789	T	0.16689	-1.0394	10	0.51188	T	0.08	-1.6197	3.3157	0.07032	0.1738:0.3109:0.0:0.5153	.	139	Q8N614	TM156_HUMAN	H	139;111	ENSP00000371364:Q139H;ENSP00000343758:Q111H	ENSP00000343758:Q111H	Q	-	3	2	TMEM156	38671955	0.919000	0.31177	0.996000	0.52242	0.326000	0.28443	-0.005000	0.12855	0.129000	0.18514	-0.302000	0.09304	CAG		0.358	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		37	46	1	0	3.03874e-20	1	3.98683e-20	37	46				
NUP155	9631	broad.mit.edu	37	5	37294509	37294509	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37294509G>A	ENST00000231498.3	-	33	4055	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_ENST00000513532.1_Silent_p.F1220F|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.F1225F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1284					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(3850-3852)ttC>ttT		nucleoporin 155kDa							53.0	51.0	51.0					5																	37294509		2203	4299	6502	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37294509G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3852C>T	5.37:g.37294509G>A						NUP155_ENST00000381843.2_Silent_p.F1225F|NUP155_ENST00000513532.1_Silent_p.F1220F|NUP155_ENST00000502533.1_5'UTR	p.F1284F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		33	4055	-	all_lung(31;0.000137)		1284					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.3852C>T	CCDS3921.1																																																																																				0.333	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		13	21	0	0	0	1	0	13	21				
HSPB7	27129	broad.mit.edu	37	1	16343580	16343580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16343580G>A	ENST00000311890.9	-	2	1148	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	HSPB7_ENST00000406363.2_Missense_Mutation_p.R112W|HSPB7_ENST00000487046.1_Missense_Mutation_p.R113W|HSPB7_ENST00000375718.4_Missense_Mutation_p.R183W|HSPB7_ENST00000411503.1_Intron	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	108					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGCCCGCACCTCGATG	0.572																																						ENST00000311890.9																			0				breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10						c.(322-324)Cgg>Tgg		heat shock 27kDa protein family, member 7 (cardiovascular)							127.0	122.0	123.0					1																	16343580		2203	4300	6503	SO:0001583	missense	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16343580G>A	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.322C>T	1.37:g.16343580G>A	ENSP00000310111:p.Arg108Trp					HSPB7_ENST00000487046.1_Missense_Mutation_p.R113W|HSPB7_ENST00000406363.2_Missense_Mutation_p.R112W|HSPB7_ENST00000411503.1_Intron|HSPB7_ENST00000375718.4_Missense_Mutation_p.R183W	p.R108W	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	2	1148	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	108					B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	ENST00000311890.9	37	c.322C>T	CCDS30611.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225997	0.58668	.	.	ENSG00000173641	ENST00000311890;ENST00000375718;ENST00000375714;ENST00000487046;ENST00000406363	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.23	5.23	0.72850	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.184709	0.40908	D	0.000995	D	0.88134	0.6355	L	0.55213	1.73	0.80722	D	1	P;B	0.50528	0.936;0.279	B;B	0.32677	0.15;0.066	D	0.89225	0.3573	10	0.45353	T	0.12	-12.1474	17.3793	0.87400	0.0:0.0:1.0:0.0	.	183;108	Q8N241;Q9UBY9	.;HSPB7_HUMAN	W	108;183;201;113;112	ENSP00000310111:R108W;ENSP00000364870:R183W;ENSP00000419477:R113W;ENSP00000385472:R112W	ENSP00000310111:R108W	R	-	1	2	HSPB7	16216167	1.000000	0.71417	0.999000	0.59377	0.592000	0.36648	9.295000	0.96095	2.441000	0.82636	0.313000	0.20887	CGG		0.572	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		20	60	0	0	0	1	0	20	60				
AUTS2	26053	broad.mit.edu	37	7	70229955	70229955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70229955C>T	ENST00000342771.4	+	8	1753	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q478*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	478										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGAAGTCTGCAGGTGGCCGG	0.662																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1432-1434)Cag>Tag		autism susceptibility candidate 2							63.0	56.0	59.0					7																	70229955		2203	4300	6503	SO:0001587	stop_gained	26053							g.chr7:70229955C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1432C>T	7.37:g.70229955C>T	ENSP00000344087:p.Gln478*					AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q478*	p.Q478*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	8	1753	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	478					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	ENST00000342771.4	37	c.1432C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603626	0.96626	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	.	.	.	5.73	5.73	0.89815	.	0.107759	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8846	18.8862	0.92379	0.0:1.0:0.0:0.0	.	.	.	.	X	478	.	.	Q	+	1	0	AUTS2	69867891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.112000	0.41892	2.704000	0.92352	0.655000	0.94253	CAG		0.662	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			12	20	0	0	0	1	0	12	20				
ZNF292	23036	broad.mit.edu	37	6	87969868	87969868	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87969868G>A	ENST00000369577.3	+	8	6564	c.6521G>A	c.(6520-6522)tGt>tAt	p.C2174Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.C2169Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2174						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCGATGTCAGGTAAGT	0.368																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6520-6522)tGt>tAt		zinc finger protein 292							161.0	160.0	160.0					6																	87969868		1844	4093	5937	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969868G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6521G>A	6.37:g.87969868G>A	ENSP00000358590:p.Cys2174Tyr					ZNF292_ENST00000339907.4_Missense_Mutation_p.C2169Y	p.C2174Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6564	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2174					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6521G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281130	0.80692	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.79033	-1.23;-1.23;-1.23	5.54	5.54	0.83059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	M	0.92268	3.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.91874	0.5510	10	0.66056	D	0.02	.	19.4685	0.94952	0.0:0.0:1.0:0.0	.	2174	O60281	ZN292_HUMAN	Y	2174;2169;92	ENSP00000358590:C2174Y;ENSP00000342847:C2169Y;ENSP00000428857:C92Y	ENSP00000342847:C2169Y	C	+	2	0	ZNF292	88026587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.601000	0.87937	0.591000	0.81541	TGT		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		68	99	0	0	0	1	0	68	99				
TBC1D4	9882	broad.mit.edu	37	13	75911063	75911063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75911063G>T	ENST00000377636.3	-	8	2071	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000431480.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	575					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTACCCTTGAGAAGATATTTT	0.378																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1723-1725)ttC>ttA		TBC1 domain family, member 4							139.0	130.0	133.0					13																	75911063		1834	4075	5909	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75911063G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1725C>A	13.37:g.75911063G>T	ENSP00000366863:p.Phe575Leu					TBC1D4_ENST00000377625.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000431480.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000425511.1_5'UTR	p.F575L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	8	2071	-		Prostate(6;0.014)|Breast(118;0.0982)	575					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1725C>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501906	0.26949	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.15	5.15	0.70609	.	0.087691	0.48767	D	0.000173	T	0.43809	0.1264	N	0.04387	-0.21	0.80722	D	1	B;B;B	0.16603	0.001;0.018;0.01	B;B;B	0.17722	0.005;0.019;0.015	T	0.45056	-0.9287	10	0.02654	T	1	-15.7316	12.3622	0.55209	0.0781:0.0:0.9219:0.0	.	575;575;575	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	L	575;575;575;87	ENSP00000366863:F575L;ENSP00000395986:F575L;ENSP00000366852:F575L;ENSP00000396932:F87L	ENSP00000366852:F575L	F	-	3	2	TBC1D4	74809064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.900000	0.48687	2.548000	0.85928	0.563000	0.77884	TTC		0.378	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	47	1	0	1.23904e-05	1	1.39987e-05	4	47				
CELA2A	63036	broad.mit.edu	37	1	15789914	15789914	+	Silent	SNP	C	C	T	rs377600147		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15789914C>T	ENST00000359621.4	+	5	415	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGGCTAACCCCGTCTCCCTCA	0.617																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(388-390)ccC>ccT		chymotrypsin-like elastase family, member 2A		C		1,4405	2.1+/-5.4	0,1,2202	186.0	140.0	156.0		390	-5.9	0.0	1		156	0,8596		0,0,4298	no	coding-synonymous	CELA2A	NM_033440.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		130/270	15789914	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789914C>T		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.390C>T	1.37:g.15789914C>T							p.P130P	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			5	415	+			130			Peptidase S1.		B2R5I4|Q14243	Silent	SNP	ENST00000359621.4	37	c.390C>T	CCDS157.1																																																																																				0.617	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		3	61	0	0	0	1	0	3	61				
SFXN5	94097	broad.mit.edu	37	2	73249650	73249650	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73249650C>A	ENST00000272433.2	-	5	462		c.e5+1		SFXN5_ENST00000474528.1_Splice_Site|SFXN5_ENST00000410065.1_Splice_Site	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CAGGAGCTTACCTGACATTCT	0.547																																						ENST00000272433.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.e5+1		sideroflexin 5							75.0	69.0	71.0					2																	73249650		2203	4300	6503	SO:0001630	splice_region_variant	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73249650C>A	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.331+1G>T	2.37:g.73249650C>A						SFXN5_ENST00000474528.1_Splice_Site|SFXN5_ENST00000410065.1_Splice_Site		NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN			5	462	-								A8K116|Q494Y3|Q53T29	Splice_Site	SNP	ENST00000272433.2	37		CCDS1922.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040839	0.75732	.	.	ENSG00000144040	ENST00000272433;ENST00000411783;ENST00000410065	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7802	0.69760	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFXN5	73103158	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.240000	0.65378	2.854000	0.98071	0.655000	0.94253	.		0.547	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579	Intron	6	10	1	0	3.59834e-05	1	4.01776e-05	6	10				
ADCY4	196883	broad.mit.edu	37	14	24798711	24798711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798711C>T	ENST00000310677.4	-	10	1359	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	ADCY4_ENST00000554068.2_Missense_Mutation_p.A416T|ADCY4_ENST00000396747.3_Missense_Mutation_p.A109T|ADCY4_ENST00000418030.2_Missense_Mutation_p.A416T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	416					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCAGCAGGGCCAGGGTAGCC	0.627																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1246-1248)Gcc>Acc		adenylate cyclase 4							46.0	47.0	47.0					14																	24798711		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24798711C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1246G>A	14.37:g.24798711C>T	ENSP00000312126:p.Ala416Thr					ADCY4_ENST00000396747.3_Missense_Mutation_p.A109T|ADCY4_ENST00000554068.2_Missense_Mutation_p.A416T|ADCY4_ENST00000418030.2_Missense_Mutation_p.A416T	p.A416T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	10	1359	-			416					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1246G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	38	6.743693	0.97805	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.13	3.27	0.37495	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.310616	0.23272	N	0.050011	T	0.64681	0.2620	N	0.26130	0.795	0.37557	D	0.918921	B	0.02656	0.0	B	0.08055	0.003	T	0.56251	-0.8010	10	0.25106	T	0.35	.	5.7527	0.18156	0.3459:0.5643:0.0:0.0898	.	416	Q8NFM4	ADCY4_HUMAN	T	416;416;416;109	ENSP00000312126:A416T;ENSP00000452250:A416T;ENSP00000393177:A416T;ENSP00000379971:A109T	ENSP00000312126:A416T	A	-	1	0	ADCY4	23868551	0.482000	0.25948	1.000000	0.80357	0.977000	0.68977	-0.156000	0.10100	0.718000	0.32166	0.655000	0.94253	GCC		0.627	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			19	24	0	0	0	1	0	19	24				
PLG	5340	broad.mit.edu	37	6	161137785	161137785	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161137785C>A	ENST00000308192.9	+	7	840	c.777C>A	c.(775-777)atC>atA	p.I259I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	259	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTGTGACATCCCCCGCTGCA	0.517																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(775-777)atC>atA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						65.0	61.0	62.0					6																	161137785		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161137785C>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.777C>A	6.37:g.161137785C>A							p.I259I	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	7	840	+			259			Kringle 2.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.777C>A	CCDS5279.1																																																																																				0.517	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		11	29	1	0	4.36969e-10	1	5.35656e-10	11	29				
KIAA0753	9851	broad.mit.edu	37	17	6531734	6531734	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6531734C>T	ENST00000361413.3	-	3	779	c.421G>A	c.(421-423)Gac>Aac	p.D141N	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	141						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCCTGTGGTCGGGTATTTTA	0.423																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(421-423)Gac>Aac		KIAA0753							72.0	73.0	73.0					17																	6531734		2015	4175	6190	SO:0001583	missense	9851					centrosome		g.chr17:6531734C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.421G>A	17.37:g.6531734C>T	ENSP00000355250:p.Asp141Asn					KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	p.D141N	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	3	779	-			141					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.421G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340690	0.24339	.	.	ENSG00000198920	ENST00000361413	T	0.11385	2.78	4.98	4.98	0.66077	.	0.203377	0.43110	D	0.000617	T	0.16257	0.0391	L	0.54323	1.7	0.48762	D	0.999709	D	0.57899	0.981	P	0.50405	0.64	T	0.00501	-1.1702	10	0.38643	T	0.18	-2.7903	9.7265	0.40335	0.0:0.905:0.0:0.095	.	141	Q2KHM9	K0753_HUMAN	N	141	ENSP00000355250:D141N	ENSP00000355250:D141N	D	-	1	0	KIAA0753	6472458	0.924000	0.31332	0.354000	0.25760	0.603000	0.37013	3.396000	0.52565	2.491000	0.84063	0.655000	0.94253	GAC		0.423	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		24	30	0	0	0	1	0	24	30				
ART1	417	broad.mit.edu	37	11	3681528	3681528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681528G>A	ENST00000250693.1	+	3	880	c.779G>A	c.(778-780)gGc>gAc	p.G260D		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	260					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CTGGCCCAGGGCCCCGCCCGC	0.612																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(778-780)gGc>gAc		ADP-ribosyltransferase 1	Becaplermin(DB00102)						43.0	47.0	46.0					11																	3681528		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681528G>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.779G>A	11.37:g.3681528G>A	ENSP00000250693:p.Gly260Asp						p.G260D	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	880	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	260					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.779G>A	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076383	0.55753	.	.	ENSG00000129744	ENST00000250693	T	0.08193	3.12	4.99	4.99	0.66335	.	0.192313	0.47093	D	0.000254	T	0.23688	0.0573	M	0.67700	2.07	0.34974	D	0.753462	D	0.89917	1.0	D	0.97110	1.0	T	0.16689	-1.0394	9	.	.	.	.	9.407	0.38469	0.0981:0.0:0.9019:0.0	.	260	P52961	NAR1_HUMAN	D	260	ENSP00000250693:G260D	.	G	+	2	0	ART1	3638104	0.225000	0.23685	0.995000	0.50966	0.959000	0.62525	1.407000	0.34657	2.308000	0.77769	0.563000	0.77884	GGC		0.612	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		22	35	0	0	0	1	0	22	35				
CLASP1	23332	broad.mit.edu	37	2	122106112	122106112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122106112G>A	ENST00000263710.4	-	38	4778	c.4389C>T	c.(4387-4389)gtC>gtT	p.V1463V	CLASP1_ENST00000455322.2_Silent_p.V1419V|CLASP1_ENST00000541859.1_Silent_p.V1180V|CLASP1_ENST00000541377.1_Silent_p.V1402V|CLASP1_ENST00000545861.1_Silent_p.V1170V|CLASP1_ENST00000397587.3_Silent_p.V1403V|CLASP1_ENST00000409078.3_Silent_p.V1396V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1463	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGATGATGTCGACAAGGAGCT	0.567																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(4387-4389)gtC>gtT		cytoplasmic linker associated protein 1							62.0	70.0	68.0					2																	122106112		2106	4230	6336	SO:0001819	synonymous_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122106112G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4389C>T	2.37:g.122106112G>A						CLASP1_ENST00000397587.3_Silent_p.V1403V|CLASP1_ENST00000541377.1_Silent_p.V1402V|CLASP1_ENST00000545861.1_Silent_p.V1170V|CLASP1_ENST00000541859.1_Silent_p.V1180V|CLASP1_ENST00000455322.2_Silent_p.V1419V|CLASP1_ENST00000409078.3_Silent_p.V1396V	p.V1463V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			38	4778	-	Renal(3;0.0496)		1463			Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37	c.4389C>T																																																																																					0.567	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		8	9	0	0	0	1	0	8	9				
ATMIN	23300	broad.mit.edu	37	16	81069745	81069745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81069745C>T	ENST00000299575.4	+	1	294	c.270C>T	c.(268-270)ggC>ggT	p.G90G	RP11-303E16.3_ENST00000566390.1_RNA|RP11-303E16.3_ENST00000561808.1_RNA|ATMIN_ENST00000564241.1_5'Flank	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	90					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCGTGCGCGGCTGCGGCAAGA	0.746																																						ENST00000299575.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(268-270)ggC>ggT		ATM interactor							12.0	12.0	12.0					16																	81069745		1992	4007	5999	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81069745C>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.270C>T	16.37:g.81069745C>T							p.G90G	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN			1	294	+			90					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.270C>T	CCDS32494.1																																																																																				0.746	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		9	8	0	0	0	1	0	9	8				
FAM46A	55603	broad.mit.edu	37	6	82459934	82459934	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82459934C>A	ENST00000320172.6	-	3	1121	c.807G>T	c.(805-807)caG>caT	p.Q269H	FAM46A_ENST00000369754.3_Missense_Mutation_p.Q288H|FAM46A_ENST00000369756.3_Missense_Mutation_p.Q350H	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	269					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CAAAGGCTTCCTGGAAATCGC	0.478																																						ENST00000369754.3																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12						c.(862-864)caG>caT		family with sequence similarity 46, member A							70.0	75.0	74.0					6																	82459934		2203	4300	6503	SO:0001583	missense	55603							g.chr6:82459934C>A	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.807G>T	6.37:g.82459934C>A	ENSP00000318298:p.Gln269His					FAM46A_ENST00000369756.3_Missense_Mutation_p.Q350H|FAM46A_ENST00000320172.6_Missense_Mutation_p.Q269H	p.Q288H			Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	3	1176	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	269					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	c.864G>T	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	6.883	0.532432	0.13127	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.24908	1.83;1.83;1.83	5.95	-11.9	0.00025	Domain of unknown function DUF1693 (1);	0.434860	0.29692	N	0.011454	T	0.03095	0.0091	L	0.33339	1.005	0.28924	N	0.891941	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09143	-1.0688	10	0.30854	T	0.27	-7.5237	4.728	0.12950	0.4829:0.2874:0.0782:0.1516	.	269;288	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	H	288;269;350	ENSP00000358769:Q288H;ENSP00000318298:Q269H;ENSP00000358771:Q350H	ENSP00000318298:Q269H	Q	-	3	2	FAM46A	82516653	0.086000	0.21541	0.042000	0.18584	0.608000	0.37181	-0.638000	0.05452	-2.954000	0.00292	0.655000	0.94253	CAG		0.478	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			16	39	1	0	1.56452e-12	1	1.96987e-12	16	39				
WNK3	65267	broad.mit.edu	37	X	54359998	54359998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54359998C>T	ENST00000375159.2	-	1	108	c.109G>A	c.(109-111)Gct>Act	p.A37T	WNK3_ENST00000354646.2_Missense_Mutation_p.A37T|WNK3_ENST00000375169.3_Missense_Mutation_p.A37T			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	37					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTAGTCTAGCTTCTACTGTC	0.428																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(109-111)Gct>Act		WNK lysine deficient protein kinase 3							72.0	68.0	70.0					X																	54359998		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54359998C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.109G>A	X.37:g.54359998C>T	ENSP00000364301:p.Ala37Thr					WNK3_ENST00000375159.2_Missense_Mutation_p.A37T|WNK3_ENST00000375169.3_Missense_Mutation_p.A37T	p.A37T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			2	547	-			37					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.109G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	3.056	-0.194375	0.06259	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159;ENST00000458404	T;T;T	0.69926	-0.42;-0.44;-0.44	5.42	-0.316	0.12743	.	0.993334	0.08172	N	0.986775	T	0.47248	0.1435	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.29971	-0.9994	10	0.37606	T	0.19	-0.4025	7.4804	0.27402	0.0:0.5574:0.1154:0.3272	.	37;37	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	T	37	ENSP00000364312:A37T;ENSP00000346667:A37T;ENSP00000364301:A37T	ENSP00000346667:A37T	A	-	1	0	WNK3	54376723	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.437000	0.06914	-0.114000	0.11936	-0.268000	0.10319	GCT		0.428	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		55	75	0	0	0	1	0	55	75				
NTHL1	4913	broad.mit.edu	37	16	2093650	2093650	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2093650G>A	ENST00000219066.1	-	4	645	c.627C>T	c.(625-627)gcC>gcT	p.A209A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1			nth endonuclease III-like 1 (E. coli)											lung(1)	1						CCACCAGCTCGGCCACAGAGG	0.622								Base excision repair (BER), DNA glycosylases																														ENST00000219066.1																			0				lung(1)	1						c.(625-627)gcC>gcT	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							58.0	49.0	52.0					16																	2093650		2194	4299	6493	SO:0001819	synonymous_variant	4913				depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2093650G>A	U81285	CCDS10457.1	16p13.3	2008-02-05	2001-11-28		ENSG00000065057	ENSG00000065057			8028	protein-coding gene	gene with protein product		602656	"""nth (E.coli endonuclease III)-like 1"""			9045706, 8990169	Standard	NM_002528		Approved	NTH1, OCTS3	uc002col.1	P78549	OTTHUMG00000128744	ENST00000219066.1:c.627C>T	16.37:g.2093650G>A						NTHL1_ENST00000562951.1_5'UTR	p.A209A	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			4	645	-			209						Silent	SNP	ENST00000219066.1	37	c.627C>T	CCDS10457.1																																																																																				0.622	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250656.1	NM_002528		9	20	0	0	0	1	0	9	20				
HECTD4	283450	broad.mit.edu	37	12	112685974	112685974	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112685974C>A	ENST00000430131.2	-	26	4024	c.2879G>T	c.(2878-2880)aGt>aTt	p.S960I	HECTD4_ENST00000377560.5_Splice_Site_p.S1210I|HECTD4_ENST00000550722.1_Splice_Site_p.S1236I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	960					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCTGCAACACTCTAATAAAT	0.284																																						ENST00000550722.1																			0											c.e27-1		HECT domain containing E3 ubiquitin protein ligase 4							73.0	65.0	67.0					12																	112685974		1837	4087	5924	SO:0001630	splice_region_variant	283450							g.chr12:112685974C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2878-1G>T	12.37:g.112685974C>A						HECTD4_ENST00000430131.2_Splice_Site_p.S960_splice|HECTD4_ENST00000377560.5_Splice_Site_p.S1210_splice	p.S1236_splice	NM_001109662.3	NP_001103132.3					27	4102	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Splice_Site	SNP	ENST00000430131.2	37	c.3705_splice		.	.	.	.	.	.	.	.	.	.	C	19.27	3.794618	0.70452	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.49720	0.77;0.78;0.77	5.79	5.79	0.91817	.	.	.	.	.	T	0.58921	0.2156	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.61579	-0.7034	9	0.87932	D	0	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	960	Q9Y4D8	K0614_HUMAN	I	1210;960;1236	ENSP00000366783:S1210I;ENSP00000404379:S960I;ENSP00000449784:S1236I	ENSP00000366783:S1210I	S	-	2	0	C12orf51	111170357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.236000	0.78154	2.753000	0.94483	0.555000	0.69702	AGT		0.284	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	Missense_Mutation	8	7	1	0	1.12685e-05	1	1.27857e-05	8	7				
LOXL2	4017	broad.mit.edu	37	8	23217682	23217682	+	Missense_Mutation	SNP	G	G	A	rs186026557		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23217682G>A	ENST00000389131.3	-	3	821	c.452C>T	c.(451-453)aCg>aTg	p.T151M	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	151	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.T151M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GACATCCTCCGTGTGCTTGCA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20224	0.001		0.0	False		,,,				2504	0.0					ENST00000389131.3																			1	Substitution - Missense(1)	p.T151M(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(451-453)aCg>aTg		lysyl oxidase-like 2		G	MET/THR	0,4406		0,0,2203	105.0	87.0	93.0		452	5.6	1.0	8		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL2	NM_002318.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	151/775	23217682	1,13005	2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23217682G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.452C>T	8.37:g.23217682G>A	ENSP00000373783:p.Thr151Met					RP11-177H13.2_ENST00000519692.1_RNA	p.T151M	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	3	821	-		Prostate(55;0.0453)|Breast(100;0.143)	151			SRCR 1.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.452C>T	CCDS34864.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.75	3.885817	0.72410	0.0	1.16E-4	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083	T;T;T;T	0.47528	0.84;0.84;0.84;4.09	5.62	5.62	0.85841	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.202118	0.51477	D	0.000093	T	0.52964	0.1767	L	0.43646	1.37	0.32528	N	0.535298	D	0.53462	0.96	P	0.53062	0.717	T	0.63875	-0.6538	10	0.66056	D	0.02	.	14.2324	0.65903	0.0:0.1493:0.8507:0.0	.	151	Q9Y4K0	LOXL2_HUMAN	M	151;232;192;151	ENSP00000373783:T151M;ENSP00000427883:T232M;ENSP00000429778:T192M;ENSP00000430519:T151M	ENSP00000373783:T151M	T	-	2	0	LOXL2	23273627	0.999000	0.42202	0.983000	0.44433	0.915000	0.54546	2.951000	0.49089	2.804000	0.96469	0.655000	0.94253	ACG		0.527	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			13	25	0	0	0	1	0	13	25				
PAPD5	64282	broad.mit.edu	37	16	50250053	50250053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50250053C>T	ENST00000561678.1	+	4	705	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.R278W|PAPD5_ENST00000357464.3_Missense_Mutation_p.R199W			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	199					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAAGCTCTTCGGAAACACAA	0.423																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(595-597)Cgg>Tgg		PAP associated domain containing 5							128.0	125.0	126.0					16																	50250053		1868	4106	5974	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50250053C>T	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.631C>T	16.37:g.50250053C>T	ENSP00000455837:p.Arg211Trp					PAPD5_ENST00000436909.3_Missense_Mutation_p.R278W|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Missense_Mutation_p.R211W	p.R199W			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	5	595	+		all_cancers(37;0.0452)	199					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.595C>T		.	.	.	.	.	.	.	.	.	.	C	14.99	2.700628	0.48307	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.54675	0.56;0.76	5.69	2.37	0.29283	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	M	0.84433	2.695	0.53688	D	0.999972	P;B	0.34909	0.475;0.283	B;B	0.32724	0.151;0.098	T	0.52155	-0.8613	10	0.44086	T	0.13	.	8.2452	0.31684	0.4248:0.495:0.0:0.0801	.	278;199	B4DV38;Q8NDF8	.;PAPD5_HUMAN	W	278;199	ENSP00000396995:R278W;ENSP00000350054:R199W	ENSP00000350054:R199W	R	+	1	2	PAPD5	48807554	0.760000	0.28428	0.995000	0.50966	0.994000	0.84299	1.331000	0.33793	0.683000	0.31428	0.655000	0.94253	CGG		0.423	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		31	62	0	0	0	1	0	31	62				
BCORL1	63035	broad.mit.edu	37	X	129184752	129184752	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129184752A>G	ENST00000218147.7	+	11	4876	c.4679A>G	c.(4678-4680)tAc>tGc	p.Y1560C	BCORL1_ENST00000359304.2_Missense_Mutation_p.Y1430C|BCORL1_ENST00000303743.5_Missense_Mutation_p.Y1634C|BCORL1_ENST00000540052.1_Missense_Mutation_p.Y1560C			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1560					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGGATTTTTACAGCAGTTCT	0.502																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4678-4680)tAc>tGc		BCL6 corepressor-like 1							234.0	197.0	210.0					X																	129184752		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129184752A>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4679A>G	X.37:g.129184752A>G	ENSP00000218147:p.Tyr1560Cys					BCORL1_ENST00000359304.2_Missense_Mutation_p.Y1430C|BCORL1_ENST00000303743.5_Missense_Mutation_p.Y1634C|BCORL1_ENST00000218147.7_Missense_Mutation_p.Y1560C	p.Y1560C	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			10	4723	+			1560					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4679A>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149116	0.78001	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.42513	0.97;1.18;0.98;0.97;1.22	5.63	5.63	0.86233	.	0.000000	0.33382	N	0.004973	T	0.63965	0.2556	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.977	T	0.67480	-0.5660	10	0.66056	D	0.02	-11.1843	14.5099	0.67776	1.0:0.0:0.0:0.0	.	1634;1560	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	C	1560;1634;1430;1560;1234	ENSP00000218147:Y1560C;ENSP00000307541:Y1634C;ENSP00000352253:Y1430C;ENSP00000437775:Y1560C;ENSP00000399483:Y1234C	ENSP00000218147:Y1560C	Y	+	2	0	BCORL1	129012433	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.666000	0.68059	1.886000	0.54624	0.417000	0.27973	TAC		0.502	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		21	177	0	0	0	1	0	21	177				
CREBBP	1387	broad.mit.edu	37	16	3781930	3781930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3781930C>A	ENST00000262367.5	-	29	5546	c.4737G>T	c.(4735-4737)caG>caT	p.Q1579H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1541H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1579	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		tgctgtcgCCCTGACTGCCCT	0.572			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4735-4737)caG>caT		CREB binding protein							366.0	292.0	317.0					16																	3781930		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781930C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4737G>T	16.37:g.3781930C>A	ENSP00000262367:p.Gln1579His					CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1541H	p.Q1579H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	29	5546	-		Ovarian(90;0.0266)	1579			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4737G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	12.25	1.881181	0.33255	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93366	-3.21;-3.21	5.51	4.56	0.56223	.	0.000000	0.64402	D	0.000001	D	0.85570	0.5727	N	0.14661	0.345	0.50171	D	0.999858	B;B	0.15719	0.014;0.014	B;B	0.18263	0.021;0.021	T	0.80256	-0.1458	10	0.44086	T	0.13	-14.0885	8.8082	0.34952	0.0:0.7741:0.0:0.2259	.	1609;1579	Q4LE28;Q92793	.;CBP_HUMAN	H	1579;1609;1541	ENSP00000262367:Q1579H;ENSP00000371502:Q1541H	ENSP00000262367:Q1579H	Q	-	3	2	CREBBP	3721931	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.477000	0.22196	1.318000	0.45170	0.561000	0.74099	CAG		0.572	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		10	92	1	0	2.27111e-07	1	2.66951e-07	10	92				
ETFDH	2110	broad.mit.edu	37	4	159624692	159624692	+	Nonsense_Mutation	SNP	G	G	T	rs398124151		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159624692G>T	ENST00000511912.1	+	10	1566	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	U3_ENST00000607547.1_RNA|ETFDH_ENST00000307738.5_Nonsense_Mutation_p.E365*	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	412					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTAGCAGCAGAATCTATTTT	0.338																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1234-1236)Gaa>Taa		electron-transferring-flavoprotein dehydrogenase							114.0	123.0	120.0					4																	159624692		2203	4300	6503	SO:0001587	stop_gained	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159624692G>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1234G>T	4.37:g.159624692G>T	ENSP00000426638:p.Glu412*					ETFDH_ENST00000307738.5_Nonsense_Mutation_p.E365*	p.E412*	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	10	1566	+	all_hematologic(180;0.24)	Renal(120;0.0458)	412					B4E3R9|J3KND9|Q7Z347	Nonsense_Mutation	SNP	ENST00000511912.1	37	c.1234G>T	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	37	6.373806	0.97515	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	.	.	.	5.27	4.43	0.53597	.	0.047696	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-26.8766	13.9533	0.64131	0.0736:0.0:0.9264:0.0	.	.	.	.	X	412;365	.	ENSP00000303552:E365X	E	+	1	0	ETFDH	159844142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	1.207000	0.43291	0.591000	0.81541	GAA		0.338	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			13	75	1	0	1.61879e-10	1	1.99744e-10	13	75				
KCNAB2	8514	broad.mit.edu	37	1	6154464	6154464	+	Silent	SNP	C	C	T	rs375073715		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6154464C>T	ENST00000164247.1	+	11	1071	c.507C>T	c.(505-507)acC>acT	p.T169T	KCNAB2_ENST00000458166.2_Silent_p.T102T|KCNAB2_ENST00000378083.3_Silent_p.T217T|KCNAB2_ENST00000341524.1_Silent_p.T169T|KCNAB2_ENST00000378092.1_Silent_p.T155T|KCNAB2_ENST00000352527.1_Silent_p.T155T|KCNAB2_ENST00000378097.1_Silent_p.T169T|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Silent_p.T169T	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	169					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGAGACCGTCCGCGCCA	0.637																																						ENST00000164247.1																			0				large_intestine(1)|lung(4)|skin(3)	8						c.(505-507)acC>acT		potassium voltage-gated channel, shaker-related subfamily, beta member 2							77.0	59.0	65.0					1																	6154464		2200	4295	6495	SO:0001819	synonymous_variant	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6154464C>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.507C>T	1.37:g.6154464C>T						KCNAB2_ENST00000341524.1_Silent_p.T169T|KCNAB2_ENST00000352527.1_Silent_p.T155T|KCNAB2_ENST00000458166.2_Silent_p.T102T|KCNAB2_ENST00000602612.1_Silent_p.T169T|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378083.3_Silent_p.T217T|KCNAB2_ENST00000378092.1_Silent_p.T155T|KCNAB2_ENST00000378097.1_Silent_p.T169T|KCNAB2_ENST00000378111.1_Intron	p.T169T	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	11	1071	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	169					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Silent	SNP	ENST00000164247.1	37	c.507C>T	CCDS55.1																																																																																				0.637	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		4	6	0	0	0	1	0	4	6				
MYO1A	4640	broad.mit.edu	37	12	57441824	57441824	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57441824T>C	ENST00000442789.2	-	4	466	c.179A>G	c.(178-180)gAg>gGg	p.E60G	MYO1A_ENST00000300119.3_Missense_Mutation_p.E60G|MYO1A_ENST00000544473.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	60	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCAATGAACTCTGGCCCATA	0.493																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(178-180)gAg>gGg		myosin IA							103.0	101.0	102.0					12																	57441824		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57441824T>C	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.179A>G	12.37:g.57441824T>C	ENSP00000393392:p.Glu60Gly					MYO1A_ENST00000300119.3_Missense_Mutation_p.E60G	p.E60G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			4	466	-			60			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.179A>G	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106515	0.77096	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000433964	D;D;D	0.87887	-2.31;-2.31;-2.31	4.54	4.54	0.55810	Myosin head, motor domain (2);	0.140555	0.45126	D	0.000396	D	0.90988	0.7166	M	0.86097	2.795	0.80722	D	1	P	0.51537	0.946	P	0.51974	0.686	D	0.92252	0.5809	10	0.87932	D	0	.	11.8505	0.52410	0.0:0.0:0.0:1.0	.	60	Q9UBC5	MYO1A_HUMAN	G	60	ENSP00000300119:E60G;ENSP00000393392:E60G;ENSP00000400991:E60G	ENSP00000300119:E60G	E	-	2	0	MYO1A	55728091	0.998000	0.40836	1.000000	0.80357	0.696000	0.40369	4.241000	0.58707	1.918000	0.55548	0.379000	0.24179	GAG		0.493	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		4	61	0	0	0	1	0	4	61				
PALD1	27143	broad.mit.edu	37	10	72324206	72324206	+	Silent	SNP	C	C	A	rs371520135		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72324206C>A	ENST00000263563.6	+	19	2617	c.2349C>A	c.(2347-2349)ctC>ctA	p.L783L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	783						cytosol (GO:0005829)											GCCTGATTCTCTTCAACGCGT	0.637																																						ENST00000263563.6																			0											c.(2347-2349)ctC>ctA		phosphatase domain containing, paladin 1							121.0	117.0	119.0					10																	72324206		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72324206C>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2349C>A	10.37:g.72324206C>A							p.L783L	NM_014431.2	NP_055246.2					19	2617	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.2349C>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	2.422	-0.332931	0.05278	.	.	ENSG00000107719	ENST00000426268	.	.	.	5.12	4.1	0.47936	.	0.140773	0.48767	D	0.000162	T	0.61388	0.2343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61535	-0.7043	6	0.46703	T	0.11	-33.4095	8.6188	0.33849	0.0:0.7853:0.0:0.2147	.	.	.	.	I	164	.	ENSP00000414493:L164I	L	+	1	0	KIAA1274	71994212	0.936000	0.31750	1.000000	0.80357	0.272000	0.26649	0.114000	0.15520	2.384000	0.81235	0.484000	0.47621	CTT		0.637	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		9	125	1	0	6.40141e-05	1	7.11719e-05	9	125				
IRF5	3663	broad.mit.edu	37	7	128588072	128588072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128588072G>T	ENST00000402030.2	+	7	1101	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	IRF5_ENST00000477535.1_Missense_Mutation_p.K257N|IRF5_ENST00000473745.1_Missense_Mutation_p.K343N|IRF5_ENST00000249375.4_Missense_Mutation_p.K343N|IRF5_ENST00000357234.5_Missense_Mutation_p.K359N	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	343					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTCAGTGCAAGGTGTTCTGGA	0.592																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1027-1029)aaG>aaT		interferon regulatory factor 5							95.0	97.0	96.0					7																	128588072		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588072G>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1029G>T	7.37:g.128588072G>T	ENSP00000385352:p.Lys343Asn					IRF5_ENST00000477535.1_Missense_Mutation_p.K257N|IRF5_ENST00000473745.1_Missense_Mutation_p.K343N|IRF5_ENST00000357234.5_Missense_Mutation_p.K359N|IRF5_ENST00000249375.4_Missense_Mutation_p.K343N	p.K343N	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			7	1101	+			343					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1029G>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826313	0.71143	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	5.37	2.55	0.30701	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.182827	0.38005	N	0.001842	D	0.97012	0.9024	M	0.89414	3.03	0.47778	D	0.999519	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.992	D	0.96294	0.9216	10	0.72032	D	0.01	.	9.7706	0.40587	0.2385:0.0:0.7615:0.0	.	257;343;359	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	N	359;257;343;343;343;333	ENSP00000349770:K359N;ENSP00000419950:K257N;ENSP00000385352:K343N;ENSP00000249375:K343N;ENSP00000419149:K343N	ENSP00000249375:K343N	K	+	3	2	IRF5	128375308	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.062000	0.30555	0.643000	0.30638	0.491000	0.48974	AAG		0.592	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		5	118	1	0	0.014758	1	0.0152625	5	118				
INTU	27152	broad.mit.edu	37	4	128626796	128626796	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626796C>T	ENST00000335251.6	+	11	1720	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	539					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGATATTGCCGTATACTGTC	0.403																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1615-1617)gcC>gcT		inturned planar cell polarity protein							186.0	173.0	177.0					4																	128626796		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128626796C>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1617C>T	4.37:g.128626796C>T						INTU_ENST00000512995.1_3'UTR	p.A539A	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			11	1720	+			539					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.1617C>T	CCDS34061.1																																																																																				0.403	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		19	166	0	0	0	1	0	19	166				
DOCK2	1794	broad.mit.edu	37	5	169141091	169141091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169141091C>T	ENST00000256935.8	+	18	1799	c.1719C>T	c.(1717-1719)caC>caT	p.H573H	DOCK2_ENST00000520908.1_Silent_p.H65H|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	573	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTATCGACACCATGTGGAAA	0.567																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(1717-1719)caC>caT		dedicator of cytokinesis 2							70.0	67.0	68.0					5																	169141091		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169141091C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1719C>T	5.37:g.169141091C>T						DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.H65H	p.H573H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		18	1799	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	573			DHR-1.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.1719C>T	CCDS4371.1																																																																																				0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		12	35	0	0	0	1	0	12	35				
SYT17	51760	broad.mit.edu	37	16	19194972	19194972	+	Missense_Mutation	SNP	G	G	A	rs192044155		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19194972G>A	ENST00000355377.2	+	5	852	c.454G>A	c.(454-456)Gac>Aac	p.D152N	SYT17_ENST00000568115.1_Missense_Mutation_p.D91N|SYT17_ENST00000562034.1_Missense_Mutation_p.D91N|SYT17_ENST00000562711.2_Missense_Mutation_p.D148N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	152					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TAACCCCGACGACTATTTCAG	0.537													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20866	0.0		0.0	False		,,,				2504	0.0					ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(271-273)Gac>Aac		synaptotagmin XVII							88.0	78.0	82.0					16																	19194972		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19194972G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.454G>A	16.37:g.19194972G>A	ENSP00000347538:p.Asp152Asn					SYT17_ENST00000568115.1_Missense_Mutation_p.D91N|SYT17_ENST00000355377.2_Missense_Mutation_p.D152N|SYT17_ENST00000562711.2_Missense_Mutation_p.D148N	p.D91N			Q9BSW7	SYT17_HUMAN			3	4069	+			152					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.271G>A	CCDS10575.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	22.7	4.320941	0.81580	.	.	ENSG00000103528	ENST00000355377	T	0.16597	2.33	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.28995	0.0720	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.978;0.99	T	0.10291	-1.0636	10	0.51188	T	0.08	.	19.4121	0.94679	0.0:0.0:1.0:0.0	.	152;91	Q9BSW7;B4DJB2	SYT17_HUMAN;.	N	152	ENSP00000347538:D152N	ENSP00000347538:D152N	D	+	1	0	SYT17	19102473	1.000000	0.71417	0.981000	0.43875	0.912000	0.54170	5.988000	0.70579	2.573000	0.86826	0.556000	0.70494	GAC		0.537	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		27	35	0	0	0	1	0	27	35				
TRAPPC10	7109	broad.mit.edu	37	21	45479009	45479009	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45479009T>C	ENST00000291574.4	+	6	879	c.704T>C	c.(703-705)aTg>aCg	p.M235T	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTTTCGAGATGCTGCAGCAG	0.473																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(703-705)aTg>aCg		trafficking protein particle complex 10							79.0	69.0	72.0					21																	45479009		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45479009T>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.704T>C	21.37:g.45479009T>C	ENSP00000291574:p.Met235Thr					TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235T	p.M235T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			6	879	+			235					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.704T>C	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662522	0.67700	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.26810	1.71;1.71	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	M	0.80183	2.485	0.80722	D	1	B;D	0.58970	0.349;0.984	B;D	0.66716	0.097;0.946	T	0.59337	-0.7473	10	0.87932	D	0	.	15.5102	0.75776	0.0:0.0:0.0:1.0	.	235;235	P48553;Q86SI7	TPC10_HUMAN;.	T	235	ENSP00000369570:M235T;ENSP00000291574:M235T	ENSP00000291574:M235T	M	+	2	0	TRAPPC10	44303437	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.767000	0.85331	2.064000	0.61679	0.459000	0.35465	ATG		0.473	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		30	44	0	0	0	1	0	30	44				
SYNE1	23345	broad.mit.edu	37	6	152730694	152730694	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152730694C>A	ENST00000367255.5	-	43	6982	c.6381G>T	c.(6379-6381)aaG>aaT	p.K2127N	RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000265368.4_Splice_Site_p.K2127N|SYNE1_ENST00000341594.5_Splice_Site_p.K2164N|SYNE1_ENST00000448038.1_Splice_Site_p.K2134N|SYNE1_ENST00000423061.1_Splice_Site_p.K2134N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2127					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAATTTTACCTTGGAAAAAG	0.333										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e43+1		spectrin repeat containing, nuclear envelope 1							66.0	63.0	64.0					6																	152730694		2203	4299	6502	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152730694C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6381+1G>T	6.37:g.152730694C>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Splice_Site_p.K2164_splice|SYNE1_ENST00000265368.4_Splice_Site_p.K2127_splice|SYNE1_ENST00000448038.1_Splice_Site_p.K2134_splice|SYNE1_ENST00000423061.1_Splice_Site_p.K2134_splice	p.K2127_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	43	6982	-		Ovarian(120;0.0955)	2127					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.6381_splice	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656972	0.67586	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000007	T	0.54255	0.1847	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.85130	0.997;0.94;0.94;0.962	T	0.49808	-0.8900	9	.	.	.	.	15.4094	0.74905	0.0:0.9322:0.0:0.0678	.	2110;2127;2127;2134	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2127;2134;2127;2134;2164	ENSP00000356224:K2127N;ENSP00000396024:K2134N;ENSP00000265368:K2127N;ENSP00000390975:K2134N;ENSP00000341887:K2164N	.	K	-	3	2	SYNE1	152772387	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.865000	0.69583	2.822000	0.97130	0.650000	0.86243	AAG		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation	4	54	1	0	0.150653	1	0.152692	4	54				
FCHSD2	9873	broad.mit.edu	37	11	72726854	72726854	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72726854C>A	ENST00000409418.4	-	4	625	c.242G>T	c.(241-243)aGg>aTg	p.R81M	FCHSD2_ENST00000409314.1_Splice_Site_p.R81M|FCHSD2_ENST00000458644.2_5'UTR|FCHSD2_ENST00000311172.7_Splice_Site_p.R25M|FCHSD2_ENST00000409853.1_Splice_Site_p.R25M	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	81										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACTAATTTACCTGTAATCATT	0.308																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.e4+1		FCH and double SH3 domains 2							59.0	57.0	58.0					11																	72726854		2200	4291	6491	SO:0001630	splice_region_variant	9873						protein binding	g.chr11:72726854C>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.242+1G>T	11.37:g.72726854C>A						FCHSD2_ENST00000311172.7_Splice_Site_p.R25_splice|FCHSD2_ENST00000409418.4_Splice_Site_p.R81_splice|FCHSD2_ENST00000409853.1_Splice_Site_p.R25_splice|FCHSD2_ENST00000458644.2_5'UTR	p.R81_splice			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		4	410	-			81					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Splice_Site	SNP	ENST00000409418.4	37	c.242_splice	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923962	0.73213	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409853;ENST00000422375	T;T;T;T;T	0.18338	2.58;2.22;2.22;2.22;2.22	4.92	4.92	0.64577	Fps/Fes/Fer/CIP4 homology (1);	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	M	0.74881	2.28	0.53005	D	0.999961	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.935	T	0.13737	-1.0498	9	.	.	.	-8.8498	13.4972	0.61432	0.0:1.0:0.0:0.0	.	81;25	O94868;O94868-3	FCSD2_HUMAN;.	M	25;81;81;25;60	ENSP00000308978:R25M;ENSP00000386987:R81M;ENSP00000386722:R81M;ENSP00000386314:R25M;ENSP00000408706:R60M	.	R	-	2	0	FCHSD2	72404502	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.637000	0.67854	2.544000	0.85801	0.561000	0.74099	AGG		0.308	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	Missense_Mutation	4	20	1	0	0.00909568	1	0.00947522	4	20				
EFNA5	1946	broad.mit.edu	37	5	106722938	106722938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:106722938G>A	ENST00000333274.6	-	4	844	c.563C>T	c.(562-564)gCa>gTa	p.A188V	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	188					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		ATACTAACCTGCTGGTTCTAA	0.328																																						ENST00000333274.6																			0				large_intestine(6)	6						c.(562-564)gCa>gTa		ephrin-A5							91.0	91.0	91.0					5																	106722938		2201	4299	6500	SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106722938G>A	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.563C>T	5.37:g.106722938G>A	ENSP00000328777:p.Ala188Val					EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	p.A188V	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	4	844	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	188						Missense_Mutation	SNP	ENST00000333274.6	37	c.563C>T	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172874	0.57584	.	.	ENSG00000184349	ENST00000333274	D	0.96232	-3.95	5.81	5.81	0.92471	.	0.117709	0.64402	D	0.000015	D	0.90854	0.7127	N	0.08118	0	0.80722	D	1	B	0.33073	0.396	B	0.29176	0.099	D	0.88738	0.3241	10	0.27082	T	0.32	-12.0474	20.0628	0.97684	0.0:0.0:1.0:0.0	.	188	P52803	EFNA5_HUMAN	V	188	ENSP00000328777:A188V	ENSP00000328777:A188V	A	-	2	0	EFNA5	106750837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.946000	0.75953	2.745000	0.94114	0.655000	0.94253	GCA		0.328	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		7	13	0	0	0	1	0	7	13				
RDH8	50700	broad.mit.edu	37	19	10124164	10124164	+	5'UTR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10124164G>T	ENST00000171214.1	+	0	240				RDH8_ENST00000591589.1_Missense_Mutation_p.E17D	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)						estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AGTCCAGGGAGGGGATCAACA	0.612																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(49-51)gaG>gaT		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						69.0	65.0	66.0					19																	10124164		2203	4300	6503	SO:0001623	5_prime_UTR_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10124164G>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.-10G>T	19.37:g.10124164G>T						RDH8_ENST00000171214.1_5'UTR	p.E17D			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		1	240	+			0					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.51G>T																																																																																					0.612	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	44	1	0	5.18039e-06	1	5.91835e-06	6	44				
SESN2	83667	broad.mit.edu	37	1	28599172	28599172	+	Silent	SNP	G	G	A	rs369524312		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28599172G>A	ENST00000253063.3	+	5	939	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	206					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCCACTCGCTCTCCTCCT	0.642																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(616-618)tcG>tcA		sestrin 2		G		0,4406		0,0,2203	122.0	105.0	111.0		618	-10.9	0.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SESN2	NM_031459.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		206/481	28599172	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28599172G>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.618G>A	1.37:g.28599172G>A							p.S206S	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	5	939	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	206					Q5T7D0|Q96SI5	Silent	SNP	ENST00000253063.3	37	c.618G>A	CCDS321.1																																																																																				0.642	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			38	47	0	0	0	1	0	38	47				
S100PBP	64766	broad.mit.edu	37	1	33292324	33292324	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33292324T>C	ENST00000373475.5	+	3	878	c.624T>C	c.(622-624)aaT>aaC	p.N208N	S100PBP_ENST00000373476.1_Silent_p.N208N|S100PBP_ENST00000398243.3_Silent_p.N208N|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGCCTGGAATGGGCCCCAGC	0.443																																						ENST00000373475.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(622-624)aaT>aaC		S100P binding protein							70.0	77.0	74.0					1																	33292324		2203	4300	6503	SO:0001819	synonymous_variant	64766					nucleus	calcium-dependent protein binding	g.chr1:33292324T>C	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.624T>C	1.37:g.33292324T>C						S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.N208N|S100PBP_ENST00000398243.3_Silent_p.N208N	p.N208N	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN			3	878	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	208						Silent	SNP	ENST00000373475.5	37	c.624T>C	CCDS30666.1																																																																																				0.443	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		8	84	0	0	0	1	0	8	84				
MIA3	375056	broad.mit.edu	37	1	222838933	222838933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838933G>A	ENST00000344922.5	+	28	5721	c.5696G>A	c.(5695-5697)tGt>tAt	p.C1899Y	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.C777Y|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000344441.6_Missense_Mutation_p.C1899Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1899					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGACTGTTCACAGGCT	0.473																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5695-5697)tGt>tAt		melanoma inhibitory activity family, member 3							116.0	115.0	116.0					1																	222838933		1857	4111	5968	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838933G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5696G>A	1.37:g.222838933G>A	ENSP00000340900:p.Cys1899Tyr					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.C777Y|MIA3_ENST00000344441.6_Missense_Mutation_p.C1899Y	p.C1899Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5721	+			1899					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.5696G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.163641	0.01673	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.06933	3.76;3.76;3.24	5.98	0.0144	0.14100	.	.	.	.	.	T	0.07098	0.0180	L	0.28274	0.84	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.003;0.004	T	0.33954	-0.9848	9	0.34782	T	0.22	.	14.3393	0.66614	0.0846:0.7814:0.134:0.0	.	777;1899	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	Y	1899;1899;1840;777;777	ENSP00000340900:C1899Y;ENSP00000340587:C1899Y;ENSP00000345866:C777Y	ENSP00000284471:C777Y	C	+	2	0	MIA3	220905556	0.005000	0.15991	0.000000	0.03702	0.773000	0.43773	0.293000	0.19029	0.102000	0.17638	0.655000	0.94253	TGT		0.473	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		13	167	0	0	0	1	0	13	167				
C1orf131	128061	broad.mit.edu	37	1	231362753	231362753	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231362753A>G	ENST00000366649.2	-	4	597	c.572T>C	c.(571-573)cTg>cCg	p.L191P	C1orf131_ENST00000318906.2_Missense_Mutation_p.L191P|C1orf131_ENST00000366651.3_Missense_Mutation_p.L190P			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	191							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCTGTTCCAGGATTCTCTC	0.483																																						ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(571-573)cTg>cCg		chromosome 1 open reading frame 131							139.0	118.0	125.0					1																	231362753		2203	4300	6503	SO:0001583	missense	128061							g.chr1:231362753A>G	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.572T>C	1.37:g.231362753A>G	ENSP00000355609:p.Leu191Pro					C1orf131_ENST00000366651.3_Missense_Mutation_p.L190P|C1orf131_ENST00000366649.2_Missense_Mutation_p.L191P	p.L191P			Q8NDD1	CA131_HUMAN			4	600	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	191					Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	ENST00000366649.2	37	c.572T>C	CCDS1591.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362653	0.82353	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651;ENST00000366648;ENST00000451322	T;T;T;T	0.50548	0.76;0.74;0.75;0.78	5.12	5.12	0.69794	.	0.192741	0.35291	N	0.003312	T	0.66366	0.2782	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.998;0.98;0.988;0.988	T	0.69624	-0.5095	10	0.66056	D	0.02	-5.9695	12.5357	0.56140	1.0:0.0:0.0:0.0	.	190;191;190;191	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	P	191;191;190;161;154	ENSP00000355609:L191P;ENSP00000321341:L191P;ENSP00000355611:L190P;ENSP00000401677:L154P	ENSP00000321341:L191P	L	-	2	0	C1orf131	229429376	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.218000	0.65257	2.151000	0.67156	0.477000	0.44152	CTG		0.483	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		20	45	0	0	0	1	0	20	45				
NCAPD2	9918	broad.mit.edu	37	12	6619249	6619249	+	Missense_Mutation	SNP	G	G	A	rs200920120		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6619249G>A	ENST00000315579.5	+	4	1011	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	NCAPD2_ENST00000545962.1_Intron|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	71	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGTCACTTTCGAAGTATAGAT	0.463																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(211-213)cGa>cAa		non-SMC condensin I complex, subunit D2		G	GLN/ARG	0,4406		0,0,2203	87.0	81.0	83.0		212	5.3	1.0	12		83	2,8598	2.2+/-6.3	0,2,4298	no	missense	NCAPD2	NM_014865.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	71/1402	6619249	2,13004	2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6619249G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.212G>A	12.37:g.6619249G>A	ENSP00000325017:p.Arg71Gln					NCAPD2_ENST00000545962.1_Intron	p.R71Q	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			4	1011	+			71			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.212G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025811	0.54683	0.0	2.33E-4	ENSG00000010292	ENST00000315579;ENST00000539714	T;T	0.45668	2.55;0.89	5.32	5.32	0.75619	.	0.181941	0.48767	D	0.000175	T	0.44787	0.1310	M	0.70595	2.14	0.80722	D	1	D	0.61697	0.99	B	0.43575	0.424	T	0.43621	-0.9380	10	0.14656	T	0.56	-6.8376	17.1702	0.86827	0.0:0.0:1.0:0.0	.	71	Q15021	CND1_HUMAN	Q	71	ENSP00000325017:R71Q;ENSP00000444377:R71Q	ENSP00000325017:R71Q	R	+	2	0	NCAPD2	6489510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.663000	0.37429	2.492000	0.84095	0.555000	0.69702	CGA		0.463	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		6	27	0	0	0	1	0	6	27				
ZBTB38	253461	broad.mit.edu	37	3	141161619	141161619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161619C>T	ENST00000514251.1	+	4	668	c.389C>T	c.(388-390)tCc>tTc	p.S130F	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S131F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S130F					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTCTCAAATTCCCCGGGTCCC	0.433																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(388-390)tCc>tTc		zinc finger and BTB domain containing 38							68.0	63.0	65.0					3																	141161619		1858	4096	5954	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161619C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.389C>T	3.37:g.141161619C>T	ENSP00000426387:p.Ser130Phe					ZBTB38_ENST00000321464.5_Missense_Mutation_p.S131F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S130F	p.S130F			Q8NAP3	ZBT38_HUMAN			4	668	+			130						Missense_Mutation	SNP	ENST00000514251.1	37	c.389C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731811	0.48939	.	.	ENSG00000177311	ENST00000509842;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T;T;T	0.79141	-1.15;3.29;2.82;-1.16;2.82;2.82;-1.24	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (1);	0.442817	0.24074	N	0.041784	T	0.74989	0.3789	L	0.34521	1.04	0.41821	D	0.990028	P;P	0.47604	0.898;0.898	P;P	0.45167	0.472;0.472	T	0.78523	-0.2171	10	0.66056	D	0.02	-17.4326	19.5786	0.95455	0.0:1.0:0.0:0.0	.	131;130	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	F	130;130;130;130;130;131;130	ENSP00000426931:S130F;ENSP00000424254:S130F;ENSP00000426387:S130F;ENSP00000425705:S130F;ENSP00000406955:S130F;ENSP00000372635:S131F;ENSP00000422081:S130F	ENSP00000372635:S131F	S	+	2	0	ZBTB38	142644309	0.945000	0.32115	0.386000	0.26170	0.532000	0.34746	2.345000	0.44018	2.699000	0.92147	0.591000	0.81541	TCC		0.433	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			19	28	0	0	0	1	0	19	28				
KIF20A	10112	broad.mit.edu	37	5	137520201	137520201	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137520201C>A	ENST00000394894.3	+	13	1745	c.1519C>A	c.(1519-1521)Ctt>Att	p.L507I	KIF20A_ENST00000508792.1_Splice_Site_p.L489I	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	507	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTCCCTCTAGCTTGTGCATGC	0.478																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.e13-1		kinesin family member 20A							138.0	144.0	142.0					5																	137520201		2203	4300	6503	SO:0001630	splice_region_variant	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520201C>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1519-1C>A	5.37:g.137520201C>A						KIF20A_ENST00000508792.1_Splice_Site_p.L489_splice	p.L507_splice	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		13	1745	+			507					B4DL79|D3DQB6	Splice_Site	SNP	ENST00000394894.3	37	c.1518_splice	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115104	0.56505	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.59638	0.3;0.25	5.1	5.1	0.69264	Kinesin, motor domain (2);	0.000000	0.40640	N	0.001059	T	0.49474	0.1559	N	0.03000	-0.44	0.58432	D	0.999998	P;D	0.71674	0.877;0.998	P;D	0.71870	0.739;0.975	T	0.52845	-0.8521	9	.	.	.	-8.9844	12.0945	0.53747	0.0:0.9217:0.0:0.0783	.	489;507	B4DL79;O95235	.;KI20A_HUMAN	I	507;489	ENSP00000378356:L507I;ENSP00000420880:L489I	.	L	+	1	0	KIF20A	137548100	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.067000	0.57527	2.642000	0.89623	0.557000	0.71058	CTT		0.478	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733	Missense_Mutation	5	134	1	0	0.000602214	1	0.000649039	5	134				
ZNF224	7767	broad.mit.edu	37	19	44610651	44610651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44610651G>T	ENST00000336976.6	+	6	592	c.338G>T	c.(337-339)aGg>aTg	p.R113M	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	113					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GATTTAACCAGGTCTCAAGAC	0.428																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(337-339)aGg>aTg		zinc finger protein 224							77.0	77.0	77.0					19																	44610651		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44610651G>T	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.338G>T	19.37:g.44610651G>T	ENSP00000337368:p.Arg113Met					AC084219.4_ENST00000592946.1_RNA	p.R113M	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	592	+		Prostate(69;0.0435)	113					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.338G>T	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	13.46	2.244758	0.39697	.	.	ENSG00000186019	ENST00000336976	T	0.06068	3.35	2.88	-3.97	0.04094	.	.	.	.	.	T	0.10551	0.0258	L	0.47190	1.495	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.13442	-1.0509	9	0.33940	T	0.23	.	1.4645	0.02403	0.2004:0.3032:0.342:0.1545	.	113	Q9NZL3	ZN224_HUMAN	M	113	ENSP00000337368:R113M	ENSP00000337368:R113M	R	+	2	0	ZNF224	49302491	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-1.836000	0.01690	-0.735000	0.04837	-0.274000	0.10170	AGG		0.428	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		4	73	1	0	0.00909568	1	0.00947522	4	73				
IGF2R	3482	broad.mit.edu	37	6	160496974	160496974	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160496974G>A	ENST00000356956.1	+	36	5410	c.5262G>A	c.(5260-5262)aaG>aaA	p.K1754K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1754					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGCGGACAAGCATTTCAACT	0.463																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5260-5262)aaG>aaA		insulin-like growth factor 2 receptor							190.0	168.0	175.0					6																	160496974		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160496974G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5262G>A	6.37:g.160496974G>A							p.K1754K	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	36	5410	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1754					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.5262G>A	CCDS5273.1																																																																																				0.463	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		10	85	0	0	0	1	0	10	85				
BARX2	8538	broad.mit.edu	37	11	129321276	129321276	+	Silent	SNP	G	G	A	rs139211336	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129321276G>A	ENST00000281437.4	+	4	915	c.819G>A	c.(817-819)tcG>tcA	p.S273S	BARX2_ENST00000531946.1_Silent_p.S151S|BARX2_ENST00000526127.1_Silent_p.S128S	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	273					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TACCCTCTTCGGAACCCCCAC	0.542																																						ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(817-819)tcG>tcA		BARX homeobox 2							45.0	48.0	47.0					11																	129321276		2201	4297	6498	SO:0001819	synonymous_variant	8538							g.chr11:129321276G>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.819G>A	11.37:g.129321276G>A						BARX2_ENST00000526127.1_Silent_p.S128S|BARX2_ENST00000531946.1_Silent_p.S151S	p.S273S	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	915	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	273					O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	c.819G>A	CCDS8481.1																																																																																				0.542	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		25	38	0	0	0	1	0	25	38				
SCAPER	49855	broad.mit.edu	37	15	76726652	76726652	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76726652C>A	ENST00000563290.1	-	26	3174		c.e26-1		SCAPER_ENST00000538941.2_Splice_Site|SCAPER_ENST00000324767.7_Splice_Site			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER							endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GAACATAAACCTAGATGAAAA	0.318																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.e26-1		S-phase cyclin A-associated protein in the ER							39.0	39.0	39.0					15																	76726652		1798	4064	5862	SO:0001630	splice_region_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76726652C>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3079-1G>T	15.37:g.76726652C>A						SCAPER_ENST00000563290.1_Splice_Site|SCAPER_ENST00000324767.7_Splice_Site		NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			26	3280	-								F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Splice_Site	SNP	ENST00000563290.1	37		CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272460	0.80580	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2904	0.90127	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAPER	74513707	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.261000	0.72509	2.753000	0.94483	0.585000	0.79938	.		0.318	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	Intron	4	58	1	0	0.00909568	1	0.00947522	4	58				
TLE2	7089	broad.mit.edu	37	19	3005496	3005496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3005496G>A	ENST00000262953.6	-	17	2097	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	TLE2_ENST00000455444.2_Missense_Mutation_p.T490M|TLE2_ENST00000591529.1_Missense_Mutation_p.T626M|TLE2_ENST00000590536.1_Missense_Mutation_p.T613M|TLE2_ENST00000443826.3_Missense_Mutation_p.T490M|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Missense_Mutation_p.T279M|TLE2_ENST00000426948.2_Missense_Mutation_p.T626M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	612					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCGCACCGTGTTGTCCAG	0.642																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1834-1836)aCg>aTg		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							44.0	51.0	49.0					19																	3005496		2104	4245	6349	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3005496G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1835C>T	19.37:g.3005496G>A	ENSP00000262953:p.Thr612Met					TLE2_ENST00000591529.1_Missense_Mutation_p.T626M|TLE2_ENST00000426948.2_Missense_Mutation_p.T626M|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.T490M|TLE2_ENST00000447365.2_Missense_Mutation_p.T279M|TLE2_ENST00000455444.2_Missense_Mutation_p.T490M|TLE2_ENST00000590536.1_Missense_Mutation_p.T613M	p.T612M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2097	-			612					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.1835C>T	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656063	0.88056	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	4.36	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.53780	1.695	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80125	-0.1513	10	0.87932	D	0	-22.4974	14.7483	0.69505	0.0:0.0:1.0:0.0	.	490;279;626;490;612	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	M	612;490;161;606;279;490;626	ENSP00000262953:T612M;ENSP00000413107:T490M;ENSP00000406523:T279M;ENSP00000392427:T490M;ENSP00000392869:T626M	ENSP00000262953:T612M	T	-	2	0	TLE2	2956496	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.586000	0.98226	2.424000	0.82194	0.462000	0.41574	ACG		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		10	8	0	0	0	1	0	10	8				
SPZ1	84654	broad.mit.edu	37	5	79617030	79617030	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617030G>A	ENST00000296739.4	+	1	1241	c.996G>A	c.(994-996)caG>caA	p.Q332Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	332					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAATCTTACAGCAGAGAGTAG	0.418																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(994-996)caG>caA		spermatogenic leucine zipper 1							116.0	110.0	112.0					5																	79617030		1890	4124	6014	SO:0001819	synonymous_variant	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617030G>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.996G>A	5.37:g.79617030G>A							p.Q332Q	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1241	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	332					B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	c.996G>A	CCDS43336.1																																																																																				0.418	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		43	51	0	0	0	1	0	43	51				
CCDC80	151887	broad.mit.edu	37	3	112357981	112357981	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112357981A>G	ENST00000206423.3	-	2	1725	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.Y258H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	258					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGACCTCGTACATGGCTTCC	0.557																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(772-774)Tac>Cac		coiled-coil domain containing 80							152.0	135.0	141.0					3																	112357981		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357981A>G	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.772T>C	3.37:g.112357981A>G	ENSP00000206423:p.Tyr258His					CCDC80_ENST00000439685.2_Missense_Mutation_p.Y258H	p.Y258H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1725	-			258					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.772T>C	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913072	0.72983	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.45668	0.89;0.89	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.997	T	0.65010	-0.6272	10	0.87932	D	0	-15.4229	15.1953	0.73081	1.0:0.0:0.0:0.0	.	269;258;258	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	258	ENSP00000206423:Y258H;ENSP00000411814:Y258H	ENSP00000206423:Y258H	Y	-	1	0	CCDC80	113840671	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.538000	0.82048	1.985000	0.57927	0.454000	0.30748	TAC		0.557	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		4	85	0	0	0	1	0	4	85				
KLHL20	27252	broad.mit.edu	37	1	173744789	173744789	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173744789T>A	ENST00000209884.4	+	10	1582	c.1446T>A	c.(1444-1446)ccT>ccA	p.P482P	KLHL20_ENST00000546011.1_Silent_p.P293P	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	482					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GTTACAATCCTCAGGAAAACA	0.453																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1444-1446)ccT>ccA		kelch-like family member 20							77.0	73.0	75.0					1																	173744789		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744789T>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1446T>A	1.37:g.173744789T>A						KLHL20_ENST00000546011.1_Silent_p.P293P	p.P482P	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			10	1582	+			482					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.1446T>A	CCDS1310.1																																																																																				0.453	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		4	33	0	0	0	1	0	4	33				
SHARPIN	81858	broad.mit.edu	37	8	145153817	145153817	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145153817G>T	ENST00000398712.2	-	8	1564	c.1128C>A	c.(1126-1128)ccC>ccA	p.P376P	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	376					apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAAGTGCAGGGCCTCTGGG	0.632																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(1126-1128)ccC>ccA		SHANK-associated RH domain interactor							51.0	55.0	54.0					8																	145153817		2004	4189	6193	SO:0001819	synonymous_variant	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145153817G>T	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.1128C>A	8.37:g.145153817G>T							p.P376P	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	1564	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		376					A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.1128C>A	CCDS43777.1																																																																																				0.632	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		12	19	1	0	1.61879e-10	1	1.99744e-10	12	19				
VPS33A	65082	broad.mit.edu	37	12	122716793	122716793	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716793C>A	ENST00000267199.4	-	13	1903	c.1791G>T	c.(1789-1791)taG>taT	p.*597Y	RP11-512M8.5_ENST00000535844.1_Intron	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	0					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCTGAACATCCTAGAAAGGTT	0.398																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1789-1791)taG>taT		vacuolar protein sorting 33 homolog A (S. cerevisiae)							170.0	181.0	177.0					12																	122716793		2203	4300	6503	SO:0001578	stop_lost	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122716793C>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1791G>T	12.37:g.122716793C>A						RP11-512M8.5_ENST00000535844.1_Intron	p.*597Y	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	13	1903	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		0					Q547V4|Q9H5Q0	Nonstop_Mutation	SNP	ENST00000267199.4	37	c.1791G>T	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126909	0.20959	.	.	ENSG00000139719	ENST00000267199	.	.	.	6.17	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.43065	D	0.99469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0587	0.36421	0.0:0.7263:0.126:0.1478	.	.	.	.	Y	597	.	.	X	-	3	2	VPS33A	121282746	.	.	0.634000	0.29324	0.288000	0.27193	.	.	1.642000	0.50584	-0.123000	0.14984	TAG		0.398	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			77	119	1	0	1.42954e-44	1	1.93023e-44	77	119				
MICAL3	57553	broad.mit.edu	37	22	18324748	18324748	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18324748C>T	ENST00000441493.2	-	20	2993	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	MICAL3_ENST00000383094.3_Missense_Mutation_p.A881T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A881T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A909T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A909T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A881T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	881					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGTCGCTTGGCGATGCTGGGC	0.662																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2641-2643)Gcc>Acc		microtubule associated monooxygenase, calponin and LIM domain containing 3							23.0	24.0	24.0					22																	18324748		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18324748C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2641G>A	22.37:g.18324748C>T	ENSP00000416015:p.Ala881Thr					MICAL3_ENST00000383094.3_Missense_Mutation_p.A881T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A909T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A909T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A881T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A881T	p.A881T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	20	2993	-		all_epithelial(15;0.198)	881					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2641G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113100	0.77210	.	.	ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T	0.64618	-0.08;-0.1;-0.1;-0.11;-0.09;-0.11	5.71	5.71	0.89125	.	0.332745	0.31010	N	0.008434	T	0.71728	0.3374	L	0.56769	1.78	0.80722	D	1	D;D;D	0.71674	0.996;0.996;0.998	P;P;P	0.56514	0.714;0.714;0.8	T	0.65348	-0.6190	10	0.20046	T	0.44	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	881;881;881	Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;MICA3_HUMAN	T	881;881;881;909;881;909	ENSP00000416015:A881T;ENSP00000383406:A881T;ENSP00000410315:A881T;ENSP00000391827:A909T;ENSP00000372574:A881T;ENSP00000207726:A909T	ENSP00000207726:A909T	A	-	1	0	XXbac-B461K10.4;MICAL3	16704748	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.763000	0.62257	2.698000	0.92095	0.561000	0.74099	GCC		0.662	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	19	0	0	0	1	0	8	19				
ALMS1	7840	broad.mit.edu	37	2	73677140	73677140	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677140T>A	ENST00000264448.6	+	8	3594	c.3483T>A	c.(3481-3483)acT>acA	p.T1161T	ALMS1_ENST00000377715.1_Silent_p.T1161T|ALMS1_ENST00000409009.1_Silent_p.T1119T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1161	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCAGGTACTCATATACCTG	0.463																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3481-3483)acT>acA		Alstrom syndrome 1							155.0	150.0	152.0					2																	73677140		1841	4084	5925	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677140T>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3483T>A	2.37:g.73677140T>A						ALMS1_ENST00000409009.1_Silent_p.T1119T|ALMS1_ENST00000377715.1_Silent_p.T1161T	p.T1161T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3594	+			1161			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.3483T>A	CCDS42697.1																																																																																				0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		19	180	0	0	0	1	0	19	180				
CEACAM21	90273	broad.mit.edu	37	19	42085687	42085687	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42085687T>C	ENST00000401445.2	+	3	450				CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000187608.9_Intron|CEACAM21_ENST00000407170.2_Silent_p.L8L			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ACACTTTCTGTTGGTCACTCT	0.512																																						ENST00000407170.2																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(22-24)Ttg>Ctg		carcinoembryonic antigen-related cell adhesion molecule 21							55.0	58.0	57.0					19																	42085687		2074	4233	6307	SO:0001627	intron_variant	90273					integral to membrane		g.chr19:42085687T>C	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.425-19T>C	19.37:g.42085687T>C						CEACAM21_ENST00000187608.9_Intron|CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000401445.2_Intron	p.L8L			Q3KPI0	CEA21_HUMAN			4	835	+			0					B7WNQ6|O75296|Q6UY47|Q96ER7	Silent	SNP	ENST00000401445.2	37	c.22T>C	CCDS46086.1																																																																																				0.512	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		3	32	0	0	0	1	0	3	32				
GRK5	2869	broad.mit.edu	37	10	121184565	121184565	+	Silent	SNP	T	T	C	rs542137819	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121184565T>C	ENST00000392870.2	+	6	830	c.501T>C	c.(499-501)ttT>ttC	p.F167F	GRK5_ENST00000369108.3_Silent_p.F62F	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	167	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCATGTTTTTTGACCGCTTTC	0.463																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(499-501)ttT>ttC		G protein-coupled receptor kinase 5							186.0	145.0	159.0					10																	121184565		2203	4300	6503	SO:0001819	synonymous_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121184565T>C	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.501T>C	10.37:g.121184565T>C						GRK5_ENST00000369108.3_Silent_p.F62F	p.F167F	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	6	830	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	167			N-terminal.|RGS.		D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	c.501T>C	CCDS7612.1																																																																																				0.463	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		6	58	0	0	0	1	0	6	58				
TEP1	7011	broad.mit.edu	37	14	20845586	20845586	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845586T>C	ENST00000262715.5	-	41	5981	c.5941A>G	c.(5941-5943)Aag>Gag	p.K1981E	TEP1_ENST00000556935.1_Missense_Mutation_p.K1873E|TEP1_ENST00000545983.1_Missense_Mutation_p.K319E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1981					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACCAATACCTTGGGGCTTAGC	0.582																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5941-5943)Aag>Gag		telomerase-associated protein 1							64.0	57.0	59.0					14																	20845586		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845586T>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5941A>G	14.37:g.20845586T>C	ENSP00000262715:p.Lys1981Glu					TEP1_ENST00000556935.1_Missense_Mutation_p.K1873E|TEP1_ENST00000545983.1_Missense_Mutation_p.K319E	p.K1981E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	41	5981	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1981					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5941A>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.393548	0.01175	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.70631	0.85;-0.5;1.27	5.33	-7.06	0.01568	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.295330	0.05046	N	0.477240	T	0.52224	0.1721	N	0.25825	0.765	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.48115	-0.9063	10	0.09338	T	0.73	1.5434	13.1869	0.59686	0.0:0.6458:0.1149:0.2393	.	319;1873;1324;1981	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	E	1981;1981;1873;319	ENSP00000262715:K1981E;ENSP00000452574:K1873E;ENSP00000438849:K319E	ENSP00000262715:K1981E	K	-	1	0	TEP1	19915426	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.979000	0.03774	-1.341000	0.02225	0.460000	0.39030	AAG		0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		20	34	0	0	0	1	0	20	34				
IL31RA	133396	broad.mit.edu	37	5	55206493	55206493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55206493G>A	ENST00000447346.2	+	12	1700	c.1635G>A	c.(1633-1635)ttG>ttA	p.L545L	IL31RA_ENST00000359040.5_Silent_p.L545L|IL31RA_ENST00000396834.1_Silent_p.L526L|IL31RA_ENST00000354961.4_Silent_p.L526L|IL31RA_ENST00000490985.1_Silent_p.L403L	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	513					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCAAGACATTGTCATTCAGTG	0.478																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1576-1578)ttG>ttA		interleukin 31 receptor A							172.0	149.0	157.0					5																	55206493		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55206493G>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1635G>A	5.37:g.55206493G>A						IL31RA_ENST00000354961.4_Silent_p.L526L|IL31RA_ENST00000447346.2_Silent_p.L545L|IL31RA_ENST00000359040.5_Silent_p.L545L|IL31RA_ENST00000490985.1_Silent_p.L403L	p.L526L	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			14	2074	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	513					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1578G>A	CCDS3970.2																																																																																				0.478	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		8	97	0	0	0	1	0	8	97				
KCNG4	93107	broad.mit.edu	37	16	84270343	84270343	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84270343T>A	ENST00000308251.4	-	2	817	c.749A>T	c.(748-750)gAg>gTg	p.E250V	KCNG4_ENST00000568181.1_Missense_Mutation_p.E250V	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	250					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACCTGGTCCTCCTCTGCCCT	0.617																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(748-750)gAg>gTg		potassium voltage-gated channel, subfamily G, member 4							30.0	29.0	30.0					16																	84270343		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270343T>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.749A>T	16.37:g.84270343T>A	ENSP00000312129:p.Glu250Val					KCNG4_ENST00000308251.4_Missense_Mutation_p.E250V	p.E250V			Q8TDN1	KCNG4_HUMAN			2	869	-			250					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.749A>T	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923332	0.73213	.	.	ENSG00000168418	ENST00000308251	D	0.96885	-4.16	5.11	5.11	0.69529	.	0.183797	0.48286	D	0.000182	D	0.97914	0.9314	M	0.81497	2.545	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	D	0.98718	1.0707	10	0.72032	D	0.01	.	14.102	0.65062	0.0:0.0:0.0:1.0	.	250;250	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	V	250	ENSP00000312129:E250V	ENSP00000312129:E250V	E	-	2	0	KCNG4	82827844	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	6.172000	0.71932	1.916000	0.55485	0.448000	0.29417	GAG		0.617	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		3	19	0	0	0	1	0	3	19				
RP1L1	94137	broad.mit.edu	37	8	10466584	10466584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466584G>A	ENST00000382483.3	-	4	5247	c.5024C>T	c.(5023-5025)aCa>aTa	p.T1675I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1755					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCCCCATTGTGGCCTTGGG	0.627																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5023-5025)aCa>aTa		retinitis pigmentosa 1-like 1							64.0	71.0	69.0					8																	10466584		2014	4187	6201	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466584G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5024C>T	8.37:g.10466584G>A	ENSP00000371923:p.Thr1675Ile						p.T1675I	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5247	-			1675					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5024C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	4.974	0.180994	0.09443	.	.	ENSG00000183638	ENST00000382483	T	0.04317	3.65	4.66	0.705	0.18127	.	.	.	.	.	T	0.03564	0.0102	L	0.27053	0.805	0.09310	N	1	P	0.52061	0.95	B	0.43082	0.407	T	0.39231	-0.9624	9	0.62326	D	0.03	-1.3538	1.6458	0.02761	0.1621:0.1391:0.413:0.2857	.	1675	A6NKC6	.	I	1675	ENSP00000371923:T1675I	ENSP00000371923:T1675I	T	-	2	0	RP1L1	10503994	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.764000	0.26532	-0.050000	0.13356	-0.502000	0.04539	ACA		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			34	59	0	0	0	1	0	34	59				
UNC13A	23025	broad.mit.edu	37	19	17753751	17753751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17753751G>A	ENST00000519716.2	-	20	2374	c.2375C>T	c.(2374-2376)tCt>tTt	p.S792F	UNC13A_ENST00000551649.1_Missense_Mutation_p.S792F|UNC13A_ENST00000252773.7_Missense_Mutation_p.S792F|UNC13A_ENST00000552293.1_Missense_Mutation_p.S792F|UNC13A_ENST00000550896.1_Missense_Mutation_p.S790F|UNC13A_ENST00000428389.2_Missense_Mutation_p.S880F	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	792					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGACACGGCAGATTTGTCAGT	0.507																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2638-2640)tCt>tTt		unc-13 homolog A (C. elegans)							44.0	45.0	44.0					19																	17753751		1959	4139	6098	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17753751G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2375C>T	19.37:g.17753751G>A	ENSP00000429562:p.Ser792Phe					UNC13A_ENST00000552293.1_Missense_Mutation_p.S792F|UNC13A_ENST00000551649.1_Missense_Mutation_p.S792F|UNC13A_ENST00000550896.1_Missense_Mutation_p.S790F|UNC13A_ENST00000519716.2_Missense_Mutation_p.S792F|UNC13A_ENST00000252773.7_Missense_Mutation_p.S792F	p.S880F			Q9UPW8	UN13A_HUMAN			21	2638	-			792					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2639C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927157	0.52759	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	3.46	3.46	0.39613	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.83519	0.5272	M	0.82630	2.6	0.52501	D	0.999953	D	0.89917	1.0	D	0.79784	0.993	D	0.86304	0.1682	10	0.87932	D	0	-13.9049	12.7835	0.57491	0.0:0.0:1.0:0.0	.	792	Q9UPW8	UN13A_HUMAN	F	792;880;792;792;792;790	ENSP00000429562:S792F;ENSP00000400409:S880F;ENSP00000252773:S792F;ENSP00000447236:S792F;ENSP00000447572:S792F;ENSP00000446831:S790F	ENSP00000252773:S792F	S	-	2	0	UNC13A	17614751	1.000000	0.71417	0.549000	0.28204	0.644000	0.38419	7.667000	0.83888	1.658000	0.50742	0.313000	0.20887	TCT		0.507	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		3	9	0	0	0	1	0	3	9				
CLCN2	1181	broad.mit.edu	37	3	184070836	184070836	+	Missense_Mutation	SNP	C	C	T	rs371271357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184070836C>T	ENST00000265593.4	-	18	2299	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	CLCN2_ENST00000434054.2_Missense_Mutation_p.G666R|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.G693R|CLCN2_ENST00000457512.1_Missense_Mutation_p.G710R|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	710					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGACTCTCTCCGAGGTTCCTG	0.607																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(2128-2130)Gga>Aga		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	114.0	122.0	119.0		2077,1996,2128,2128	-3.6	0.0	3		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	125,125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	693/882,666/855,710/870,710/899	184070836	1,13005	2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184070836C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2128G>A	3.37:g.184070836C>T	ENSP00000265593:p.Gly710Arg					EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.G666R|CLCN2_ENST00000344937.7_Missense_Mutation_p.G693R|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.G710R	p.G710R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	2299	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		710					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.2128G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	10.50	1.368821	0.24771	0.0	1.16E-4	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.84223	-1.77;-1.72;-1.82;-1.81	5.58	-3.63	0.04529	.	0.936325	0.09180	N	0.837602	T	0.69196	0.3084	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B;B	0.14805	0.011;0.003;0.002;0.011;0.005	B;B;B;B;B	0.09377	0.002;0.002;0.004;0.002;0.002	T	0.51395	-0.8711	10	0.15952	T	0.53	-0.829	3.0529	0.06175	0.1025:0.205:0.2108:0.4818	.	666;710;693;710;666	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	R	710;693;666;710	ENSP00000265593:G710R;ENSP00000345056:G693R;ENSP00000400425:G666R;ENSP00000391928:G710R	ENSP00000265593:G710R	G	-	1	0	CLCN2	185553530	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-1.613000	0.02059	-1.263000	0.02455	0.462000	0.41574	GGA		0.607	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			62	86	0	0	0	1	0	62	86				
GTSE1	51512	broad.mit.edu	37	22	46712304	46712304	+	Missense_Mutation	SNP	C	C	A	rs563396011		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46712304C>A	ENST00000454366.1	+	7	1639	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	457					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.S457Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTAAGTTTTCTATTGGTGAG	0.294																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			1	Substitution - Missense(1)	p.S457Y(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1426-1428)tCt>tAt		G-2 and S-phase expressed 1							76.0	83.0	81.0					22																	46712304		1955	4186	6141	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46712304C>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1427C>A	22.37:g.46712304C>A	ENSP00000415430:p.Ser476Tyr						p.S476Y	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	7	1639	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	457					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1427C>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783530	0.31593	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08634	3.07	4.96	2.71	0.32032	.	0.497643	0.21782	N	0.069193	T	0.21468	0.0517	M	0.64997	1.995	0.09310	N	1	D;P	0.57257	0.979;0.946	P;P	0.56960	0.81;0.74	T	0.06770	-1.0808	10	0.72032	D	0.01	-10.2378	16.3893	0.83528	0.0:0.7501:0.2499:0.0	.	457;436	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	Y	476;436	ENSP00000415430:S476Y	ENSP00000354634:S436Y	S	+	2	0	GTSE1	45090968	0.013000	0.17824	0.068000	0.19968	0.445000	0.32107	1.043000	0.30316	0.608000	0.30000	-0.810000	0.03169	TCT		0.294	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		61	83	1	0	4.48484e-38	1	6.04334e-38	61	83				
KIAA1328	57536	broad.mit.edu	37	18	34415334	34415334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34415334G>T	ENST00000280020.5	+	3	254	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	KIAA1328_ENST00000591619.1_Nonsense_Mutation_p.E74*|KIAA1328_ENST00000543923.1_Start_Codon_SNP_p.M1I|KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.E78*|KIAA1328_ENST00000435985.2_5'UTR	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	78										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTCAGTAGATGAACAGGTTAG	0.398																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(220-222)Gaa>Taa		KIAA1328							218.0	217.0	217.0					18																	34415334		1843	4096	5939	SO:0001587	stop_gained	57536							g.chr18:34415334G>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.232G>T	18.37:g.34415334G>T	ENSP00000280020:p.Glu78*					KIAA1328_ENST00000543923.1_Start_Codon_SNP_p.M1I|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.E78*|KIAA1328_ENST00000280020.5_Nonsense_Mutation_p.E78*	p.E74*			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	3	1006	+			78					Q05DL0|Q49AG6|Q9P2L8	Nonsense_Mutation	SNP	ENST00000280020.5	37	c.220G>T	CCDS45855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.518473|3.518473	0.64634|0.64634	.|.	.|.	ENSG00000150477|ENSG00000150477	ENST00000280020;ENST00000383055|ENST00000543923	.|T	.|0.39997	.|1.05	5.41|5.41	3.33|3.33	0.38152|0.38152	.|.	0.472269|.	0.19301|.	N|.	0.117631|.	.|T	.|0.51483	.|0.1677	.|.	.|.	.|.	0.41703|0.41703	D|D	0.989419|0.989419	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55029	.|-0.8204	.|6	0.66056|0.72032	D|D	0.02|0.01	.|.	9.0233|9.0233	0.36213|0.36213	0.0954:0.4384:0.4662:0.0|0.0954:0.4384:0.4662:0.0	.|.	.|.	.|.	.|.	X|I	78|1	.|ENSP00000441359:M1I	ENSP00000280020:E78X|ENSP00000441359:M1I	E|M	+|+	1|3	0|0	KIAA1328|KIAA1328	32669332|32669332	0.884000|0.884000	0.30299|0.30299	0.993000|0.993000	0.49108|0.49108	0.401000|0.401000	0.30781|0.30781	1.295000|1.295000	0.33377|0.33377	1.273000|1.273000	0.44346|0.44346	0.557000|0.557000	0.71058|0.71058	GAA|ATG		0.398	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		43	89	1	0	3.54909e-21	1	4.66696e-21	43	89				
TEX14	56155	broad.mit.edu	37	17	56635179	56635179	+	Missense_Mutation	SNP	C	C	A	rs375785139		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56635179C>A	ENST00000240361.8	-	32	4523	c.4438G>T	c.(4438-4440)Ggt>Tgt	p.G1480C	TEX14_ENST00000389934.3_Missense_Mutation_p.G1474C|TEX14_ENST00000584699.1_Intron|TEX14_ENST00000349033.5_Missense_Mutation_p.G1434C|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA			Q8IWB6	TEX14_HUMAN	testis expressed 14	1480					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGACCAACCTAGTCGCTTC	0.348																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(4420-4422)Ggt>Tgt		testis expressed 14		C	CYS/GLY,CYS/GLY,CYS/GLY	1,4405		0,1,2202	94.0	100.0	98.0		4438,4300,4420	3.7	1.0	17		98	0,8600		0,0,4300	no	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	159,159,159	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1480/1498,1434/1452,1474/1492	56635179	1,13005	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56635179C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4438G>T	17.37:g.56635179C>A	ENSP00000240361:p.Gly1480Cys					TEX14_ENST00000584699.1_Intron|TEX14_ENST00000349033.5_Missense_Mutation_p.G1434C|TEX14_ENST00000240361.8_Missense_Mutation_p.G1480C	p.G1474C	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			32	4537	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1480					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.4420G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.361037	0.61403	2.27E-4	0.0	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.26067	1.76;1.76;1.76	5.65	3.69	0.42338	.	0.204046	0.35262	N	0.003338	T	0.42337	0.1198	L	0.59436	1.845	0.31617	N	0.65078	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.962;0.983;0.983	T	0.50775	-0.8788	10	0.87932	D	0	-11.3483	8.2821	0.31906	0.0:0.8257:0.0:0.1743	.	1480;1434;1474	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	C	1480;1474;1434	ENSP00000240361:G1480C;ENSP00000374584:G1474C;ENSP00000268910:G1434C	ENSP00000240361:G1480C	G	-	1	0	TEX14	53990178	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.204000	0.32296	0.948000	0.37687	0.655000	0.94253	GGT		0.348	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			37	79	1	0	5.20837e-25	1	6.91842e-25	37	79				
LNX2	222484	broad.mit.edu	37	13	28136762	28136762	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28136762A>G	ENST00000316334.3	-	5	1141	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	338					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCACTTGGAAAATCTCTTCT	0.488																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1012-1014)Ttc>Ctc		ligand of numb-protein X 2							98.0	95.0	96.0					13																	28136762		2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28136762A>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1012T>C	13.37:g.28136762A>G	ENSP00000325929:p.Phe338Leu						p.F338L	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	5	1141	-		Lung SC(185;0.0156)	338					Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1012T>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063032	0.36373	.	.	ENSG00000139517	ENST00000316334	T	0.37584	1.19	5.88	3.5	0.40072	PDZ/DHR/GLGF (1);	0.178777	0.51477	N	0.000085	T	0.30293	0.0760	L	0.46670	1.46	0.52501	D	0.999955	B	0.02656	0.0	B	0.04013	0.001	T	0.05084	-1.0907	10	0.30078	T	0.28	.	11.3563	0.49617	0.9084:0.0:0.0916:0.0	.	338	Q8N448	LNX2_HUMAN	L	338	ENSP00000325929:F338L	ENSP00000325929:F338L	F	-	1	0	LNX2	27034762	0.698000	0.27777	0.393000	0.26258	0.752000	0.42762	1.479000	0.35453	0.498000	0.27948	0.533000	0.62120	TTC		0.488	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			4	57	0	0	0	1	0	4	57				
ELF1	1997	broad.mit.edu	37	13	41525483	41525483	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41525483G>A	ENST00000239882.3	-	4	657	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	ELF1_ENST00000442101.1_Silent_p.L115L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	115					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTTCATCCAGCATAGGGCCA	0.373																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(343-345)Ctg>Ttg		E74-like factor 1 (ets domain transcription factor)							103.0	95.0	98.0					13																	41525483		2203	4300	6503	SO:0001819	synonymous_variant	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41525483G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.343C>T	13.37:g.41525483G>A						ELF1_ENST00000442101.1_Silent_p.L115L|ELF1_ENST00000498824.1_5'UTR	p.L115L	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	4	657	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	115					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	ENST00000239882.3	37	c.343C>T	CCDS9374.1																																																																																				0.373	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		3	45	0	0	0	1	0	3	45				
PDE6C	5146	broad.mit.edu	37	10	95422400	95422400	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95422400G>A	ENST00000371447.3	+	20	2505	c.2367G>A	c.(2365-2367)aaG>aaA	p.K789K	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	789					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TTGTATATAAGGTAAGTAAGC	0.289																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.e20+1		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							44.0	48.0	47.0					10																	95422400		2202	4293	6495	SO:0001630	splice_region_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95422400G>A	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2367+1G>A	10.37:g.95422400G>A						PDE6C_ENST00000475427.2_3'UTR	p.K789_splice	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			20	2505	+		Colorectal(252;0.123)	789					A6NCR6|Q5VY29	Splice_Site	SNP	ENST00000371447.3	37	c.2367_splice	CCDS7429.1																																																																																				0.289	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	Silent	10	14	0	0	0	1	0	10	14				
REPS1	85021	broad.mit.edu	37	6	139266781	139266781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139266781G>A	ENST00000450536.2	-	3	905	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000415951.2_Missense_Mutation_p.R111C|REPS1_ENST00000367663.4_Missense_Mutation_p.R111C|REPS1_ENST00000258062.5_Missense_Mutation_p.R111C|REPS1_ENST00000409812.2_Missense_Mutation_p.R111C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	111	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCTGCATGGCGAGATTCCTGT	0.413																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(331-333)Cgc>Tgc		RALBP1 associated Eps domain containing 1							103.0	103.0	103.0					6																	139266781		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266781G>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.331C>T	6.37:g.139266781G>A	ENSP00000392065:p.Arg111Cys					REPS1_ENST00000409812.2_Missense_Mutation_p.R111C|REPS1_ENST00000367663.4_Missense_Mutation_p.R111C|REPS1_ENST00000415951.2_Missense_Mutation_p.R111C|REPS1_ENST00000258062.5_Missense_Mutation_p.R111C	p.R111C			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	905	-			111			EH 1.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.331C>T		.	.	.	.	.	.	.	.	.	.	G	19.67	3.870700	0.72065	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.37752	1.18;1.19;1.19;1.19;1.19;1.19	5.56	4.69	0.59074	EPS15 homology (EH) (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.57536	1.79	0.80722	D	1	D;B;D;B	0.89917	1.0;0.025;1.0;0.014	D;B;D;B	0.85130	0.997;0.011;0.993;0.005	T	0.42241	-0.9463	10	0.54805	T	0.06	-5.4075	7.7788	0.29054	0.0826:0.0:0.7181:0.1993	.	111;111;111;111	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	111;111;97;111;111;111;59	ENSP00000392065:R111C;ENSP00000356635:R111C;ENSP00000434251:R97C;ENSP00000386699:R111C;ENSP00000258062:R111C;ENSP00000397941:R111C	ENSP00000258062:R111C	R	-	1	0	REPS1	139308474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.266000	0.58871	1.347000	0.45714	0.650000	0.86243	CGC		0.413	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			39	70	0	0	0	1	0	39	70				
SP3	6670	broad.mit.edu	37	2	174777882	174777882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174777882G>A	ENST00000310015.6	-	6	2475	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	SP3_ENST00000455789.2_Missense_Mutation_p.R596C|SP3_ENST00000418194.2_Missense_Mutation_p.R581C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	649					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACAAAAGGGCGTTCTCCAGAA	0.408																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1945-1947)Cgc>Tgc		Sp3 transcription factor							118.0	105.0	110.0					2																	174777882		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777882G>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1945C>T	2.37:g.174777882G>A	ENSP00000310301:p.Arg649Cys					SP3_ENST00000455789.2_Missense_Mutation_p.R596C|SP3_ENST00000418194.2_Missense_Mutation_p.R581C	p.R649C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2475	-			649					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1945C>T	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551921	0.65311	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.20463	2.07;2.07;2.07	5.41	5.41	0.78517	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	T	0.67457	-0.5666	10	0.87932	D	0	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	646;649;596	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	C	649;596;581	ENSP00000310301:R649C;ENSP00000388903:R596C;ENSP00000406140:R581C	ENSP00000310301:R649C	R	-	1	0	SP3	174486128	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.357000	0.59436	2.701000	0.92244	0.563000	0.77884	CGC		0.408	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		24	38	0	0	0	1	0	24	38				
FAM208B	54906	broad.mit.edu	37	10	5781604	5781604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5781604C>T	ENST00000328090.5	+	13	2096	c.1471C>T	c.(1471-1473)Ctt>Ttt	p.L491F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	491																	TGCTTCAAAGCTTCAATCAGA	0.348																																						ENST00000328090.5																			0											c.(1471-1473)Ctt>Ttt		family with sequence similarity 208, member B							62.0	58.0	59.0					10																	5781604		1831	4087	5918	SO:0001583	missense	54906							g.chr10:5781604C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1471C>T	10.37:g.5781604C>T	ENSP00000328426:p.Leu491Phe					RP11-336A10.2_ENST00000411512.2_RNA	p.L491F	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2096	+			491					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1471C>T	CCDS41485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.105917|3.105917	0.56291|0.56291	.|.	.|.	ENSG00000108021|ENSG00000108021	ENST00000380270|ENST00000328090	.|D	.|0.98028	.|-4.67	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.235985	.|0.30501	.|N	.|0.009488	D|D	0.98337|0.98337	0.9448|0.9448	M|M	0.66939|0.66939	2.045|2.045	0.34897|0.34897	D|D	0.746104|0.746104	.|D	.|0.89917	.|1.0	.|D	.|0.69307	.|0.963	D|D	0.99973|0.99973	1.2094|1.2094	5|10	.|0.56958	.|D	.|0.05	.|.	17.0151|17.0151	0.86416|0.86416	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|491	.|Q5VWN6	.|F208B_HUMAN	V|F	189|491	.|ENSP00000328426:L491F	.|ENSP00000328426:L491F	A|L	+|+	2|1	0|0	C10orf18|C10orf18	5821610|5821610	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.247000|0.247000	0.25773|0.25773	1.987000|1.987000	0.40687|0.40687	2.743000|2.743000	0.94032|0.94032	0.591000|0.591000	0.81541|0.81541	GCT|CTT		0.348	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		23	35	0	0	0	1	0	23	35				
KLHDC3	116138	broad.mit.edu	37	6	42986283	42986283	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42986283G>T	ENST00000326974.4	+	6	917	c.722G>T	c.(721-723)aGc>aTc	p.S241I	KLHDC3_ENST00000332245.8_Missense_Mutation_p.S182I|KLHDC3_ENST00000244670.8_Missense_Mutation_p.S107I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	241					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCGCCGGAGCCACTCGGCC	0.557																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(721-723)aGc>aTc		kelch domain containing 3							104.0	115.0	111.0					6																	42986283		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986283G>T	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.722G>T	6.37:g.42986283G>T	ENSP00000313995:p.Ser241Ile					KLHDC3_ENST00000332245.8_Missense_Mutation_p.S182I|KLHDC3_ENST00000244670.8_Missense_Mutation_p.S107I	p.S241I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	917	+			241					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.722G>T	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391848	0.83011	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.67523	-0.27;-0.27;-0.27	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	H	0.96777	3.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	D	0.91355	0.5107	10	0.87932	D	0	-6.6569	19.3874	0.94563	0.0:0.0:1.0:0.0	.	241;182;107;241	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	I	241;241;107;241;214;182	ENSP00000313995:S241I;ENSP00000244670:S107I;ENSP00000331562:S182I	ENSP00000244670:S107I	S	+	2	0	KLHDC3	43094261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.102000	0.94226	2.590000	0.87494	0.561000	0.74099	AGC		0.557	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		7	151	1	0	1.06961e-07	1	1.26574e-07	7	151				
FAM83G	644815	broad.mit.edu	37	17	18874841	18874841	+	Missense_Mutation	SNP	C	C	T	rs375064559		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18874841C>T	ENST00000388995.6	-	6	2526	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	FAM83G_ENST00000345041.4_Missense_Mutation_p.R768H|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R768H			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	768					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTCATGGGGCGGGCATTTTG	0.657																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2302-2304)cGc>cAc		family with sequence similarity 83, member G		C	HIS/ARG,,	1,3957		0,1,1978	80.0	90.0	87.0		2303,,	-3.8	0.0	17		87	0,8280		0,0,4140	no	missense,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	29,,	0,1,6118	TT,TC,CC		0.0,0.0253,0.0082	possibly-damaging,,	768/824,,	18874841	1,12237	1979	4140	6119	SO:0001583	missense	644815							g.chr17:18874841C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2303G>A	17.37:g.18874841C>T	ENSP00000373647:p.Arg768His					FAM83G_ENST00000345041.4_Missense_Mutation_p.R768H|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R768H|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron	p.R768H			A6ND36	FA83G_HUMAN			6	2526	-			768					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2303G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	6.894	0.534395	0.13188	2.53E-4	0.0	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11821	2.74;2.74	4.9	-3.81	0.04294	.	1.704760	0.03694	N	0.247602	T	0.09379	0.0231	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37033	-0.9723	10	0.52906	T	0.07	-0.1894	6.3786	0.21521	0.0:0.4594:0.1186:0.422	.	768	A6ND36	FA83G_HUMAN	H	768	ENSP00000373647:R768H;ENSP00000343279:R768H	ENSP00000343279:R768H	R	-	2	0	FAM83G	18815566	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.175000	0.09825	-0.976000	0.03542	-0.379000	0.06801	CGC		0.657	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			12	130	0	0	0	1	0	12	130				
AHDC1	27245	broad.mit.edu	37	1	27876628	27876628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876628G>A	ENST00000247087.5	-	5	2595	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	AHDC1_ENST00000374011.2_Missense_Mutation_p.R667W			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	667	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCCCACGCCGCCGGAAGCCC	0.672																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1999-2001)Cgg>Tgg		AT hook, DNA binding motif, containing 1							23.0	28.0	26.0					1																	27876628		2197	4285	6482	SO:0001583	missense	27245						DNA binding	g.chr1:27876628G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1999C>T	1.37:g.27876628G>A	ENSP00000247087:p.Arg667Trp					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R667W	p.R667W	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2967	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	667			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1999C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180222	0.57800	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.64438	-0.1;-0.1	5.51	3.58	0.41010	.	0.000000	0.52532	U	0.000071	T	0.66376	0.2783	L	0.27053	0.805	0.42647	D	0.993434	D	0.89917	1.0	D	0.70227	0.968	T	0.68872	-0.5294	10	0.87932	D	0	-11.4683	12.5455	0.56197	0.0:0.0:0.5486:0.4514	.	667	Q5TGY3	AHDC1_HUMAN	W	667	ENSP00000247087:R667W;ENSP00000363123:R667W	ENSP00000247087:R667W	R	-	1	2	AHDC1	27749215	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.017000	0.49615	0.631000	0.30412	0.650000	0.86243	CGG		0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			21	23	0	0	0	1	0	21	23				
TTN	7273	broad.mit.edu	37	2	179456584	179456584	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179456584C>A	ENST00000591111.1	-	253	55263	c.55039G>T	c.(55039-55041)Gat>Tat	p.D18347Y	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10923Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D11048Y|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17420Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D19988Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D11115Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18347	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAACATCTACATGGTGC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(59962-59964)Gat>Tat		titin							63.0	61.0	62.0					2																	179456584		1843	4083	5926	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456584C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55039G>T	2.37:g.179456584C>A	ENSP00000465570:p.Asp18347Tyr					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10923Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17420Y|TTN_ENST00000359218.5_Missense_Mutation_p.D11048Y|TTN_ENST00000342175.6_Missense_Mutation_p.D11115Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18347Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.D19988Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	60186	-			18347			Fibronectin type-III 44.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.59962G>T		.	.	.	.	.	.	.	.	.	.	C	13.23	2.174867	0.38413	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79064	0.4383	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79042	-0.1965	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10923;11048;11115;18347	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	17420;10923;11115;11048;10921	ENSP00000343764:D17420Y;ENSP00000434586:D10923Y;ENSP00000340554:D11115Y;ENSP00000352154:D11048Y	ENSP00000340554:D11115Y	D	-	1	0	TTN	179164830	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	GAT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	35	1	0	1.96292e-10	1	2.41709e-10	20	35				
PCBP4	57060	broad.mit.edu	37	3	51994012	51994012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51994012C>A	ENST00000461554.1	-	8	746	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	PCBP4_ENST00000355852.2_Missense_Mutation_p.G139W|PCBP4_ENST00000484633.1_Intron|PCBP4_ENST00000395013.3_Intron|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000471622.1_Missense_Mutation_p.G139W|PCBP4_ENST00000322099.7_Missense_Mutation_p.G139W|PCBP4_ENST00000395014.2_Missense_Mutation_p.G160W	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	139	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCAGGTCCCCTGCCACCTGT	0.597																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(415-417)Ggg>Tgg		poly(rC) binding protein 4							88.0	89.0	89.0					3																	51994012		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51994012C>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.415G>T	3.37:g.51994012C>A	ENSP00000417196:p.Gly139Trp					PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000355852.2_Missense_Mutation_p.G139W|PCBP4_ENST00000471622.1_Missense_Mutation_p.G139W|PCBP4_ENST00000395013.3_Intron|PCBP4_ENST00000322099.7_Missense_Mutation_p.G139W|PCBP4_ENST00000395014.2_Missense_Mutation_p.G160W|PCBP4_ENST00000484633.1_Intron	p.G139W	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	8	746	-			139			KH 2.		Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.415G>T	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058719	0.93846	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000395014;ENST00000471622;ENST00000294192;ENST00000468324	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.9;0.67;1.51	5.17	5.17	0.71159	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.81665	-0.0830	10	0.87932	D	0	-14.9405	18.2729	0.90073	0.0:1.0:0.0:0.0	.	139;139;139;160;105	C9J0A4;E7EST1;P57723;Q9GZT1;Q9HCU2	.;.;PCBP4_HUMAN;.;.	W	139;139;139;160;139;139;139	ENSP00000348111:G139W;ENSP00000322341:G139W;ENSP00000417196:G139W;ENSP00000378461:G160W;ENSP00000418925:G139W;ENSP00000419694:G139W	ENSP00000294192:G139W	G	-	1	0	PCBP4	51969052	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.751000	0.85126	2.392000	0.81423	0.563000	0.77884	GGG		0.597	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		4	65	1	0	0.184627	1	0.186383	4	65				
ZMYM3	9203	broad.mit.edu	37	X	70465908	70465908	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70465908C>T	ENST00000353904.2	-	16	2800	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	ZMYM3_ENST00000373984.3_Silent_p.V873V|ZMYM3_ENST00000373988.1_Silent_p.V873V|ZMYM3_ENST00000314425.5_Silent_p.V871V|ZMYM3_ENST00000373998.1_Silent_p.V859V|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	871					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGAAGATGGGCACTGGGATGG	0.577																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2575-2577)gtG>gtA		zinc finger, MYM-type 3							129.0	104.0	113.0					X																	70465908		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465908C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2613G>A	X.37:g.70465908C>T						ZMYM3_ENST00000373988.1_Silent_p.V873V|ZMYM3_ENST00000314425.5_Silent_p.V871V|ZMYM3_ENST00000373984.3_Silent_p.V873V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Silent_p.V871V	p.V859V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			16	3274	-	Renal(35;0.156)		871					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.2577G>A	CCDS14409.1																																																																																				0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		20	72	0	0	0	1	0	20	72				
MKI67	4288	broad.mit.edu	37	10	129913277	129913277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129913277C>A	ENST00000368654.3	-	7	1770	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	465					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCCCAATTTCTCAGGCTTGC	0.413																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1393-1395)gaG>gaT		marker of proliferation Ki-67							145.0	143.0	144.0					10																	129913277		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913277C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1395G>T	10.37:g.129913277C>A	ENSP00000357643:p.Glu465Asp					MKI67_ENST00000368653.3_Intron	p.E465D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1770	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	465					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1395G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078846	0.55753	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01685	4.69	4.0	-0.764	0.11027	.	0.332170	0.22294	N	0.061951	T	0.02342	0.0072	L	0.32530	0.975	0.09310	N	1	D	0.56968	0.978	P	0.52957	0.714	T	0.45614	-0.9249	10	0.87932	D	0	.	4.0353	0.09727	0.0:0.3684:0.3799:0.2517	.	465	P46013	KI67_HUMAN	D	465	ENSP00000357643:E465D	ENSP00000357643:E465D	E	-	3	2	MKI67	129803267	0.012000	0.17670	0.054000	0.19295	0.189000	0.23516	0.328000	0.19681	0.055000	0.16094	0.655000	0.94253	GAG		0.413	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	195	1	0	2.17888e-05	1	2.45068e-05	7	195				
HOXB4	3214	broad.mit.edu	37	17	46654355	46654355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46654355G>T	ENST00000332503.5	-	2	2276	c.485C>A	c.(484-486)cCc>cAc	p.P162H	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000490677.1_5'Flank|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	162					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGAGCGCTTGGGCTCCCCGCC	0.582																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(484-486)cCc>cAc		homeobox B4							50.0	55.0	53.0					17																	46654355		2203	4300	6503	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46654355G>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.485C>A	17.37:g.46654355G>T	ENSP00000328928:p.Pro162His					HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron	p.P162H	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			2	2276	-			162					Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.485C>A	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041916	0.75732	.	.	ENSG00000182742	ENST00000332503	D	0.95821	-3.82	5.27	5.27	0.74061	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.176335	0.50627	D	0.000108	D	0.96648	0.8906	H	0.94808	3.585	0.80722	D	1	P	0.42785	0.79	B	0.40602	0.334	D	0.96945	0.9690	10	0.40728	T	0.16	.	17.6576	0.88182	0.0:0.0:1.0:0.0	.	162	P17483	HXB4_HUMAN	H	162	ENSP00000328928:P162H	ENSP00000328928:P162H	P	-	2	0	HOXB4	44009354	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.850000	0.86915	2.456000	0.83038	0.561000	0.74099	CCC		0.582	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			17	44	1	0	2.89027e-11	1	3.59474e-11	17	44				
RABL6	55684	broad.mit.edu	37	9	139726740	139726740	+	Missense_Mutation	SNP	G	G	A	rs373810895		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139726740G>A	ENST00000311502.7	+	7	859	c.623G>A	c.(622-624)cGc>cAc	p.R208H	MIR4292_ENST00000585012.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371675.3_Missense_Mutation_p.R93H|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Missense_Mutation_p.R208H|RABL6_ENST00000357466.2_Missense_Mutation_p.R208H|RABL6_ENST00000432842.2_Missense_Mutation_p.R170H|RABL6_ENST00000371663.4_Missense_Mutation_p.R209H			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	208	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TCCTACTTCCGCTATGCTGAG	0.493																																						ENST00000371675.3																			0											c.(277-279)cGc>cAc		RAB, member RAS oncogene family-like 6		G	HIS/ARG,HIS/ARG,HIS/ARG	0,3792		0,0,1896	132.0	130.0	131.0		623,623,626	4.5	1.0	9		131	1,8239		0,1,4119	no	missense,missense,missense	C9orf86	NM_024718.4,NM_001173989.1,NM_001173988.1	29,29,29	0,1,6015	AA,AG,GG		0.0121,0.0,0.0083	benign,benign,benign	208/730,208/315,209/731	139726740	1,12031	1896	4120	6016	SO:0001583	missense	55684							g.chr9:139726740G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.623G>A	9.37:g.139726740G>A	ENSP00000311134:p.Arg208His					RABL6_ENST00000371663.4_Missense_Mutation_p.R209H|RABL6_ENST00000357466.2_Missense_Mutation_p.R208H|RABL6_ENST00000371671.4_Missense_Mutation_p.R208H|RABL6_ENST00000311502.7_Missense_Mutation_p.R208H|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.R170H	p.R93H							7	1163	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.278G>A	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145184	0.37825	0.0	1.21E-4	ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675	T;T;T;T;T	0.67171	-0.23;-0.24;0.68;0.78;-0.25	4.5	4.5	0.54988	.	0.063665	0.64402	D	0.000005	T	0.53690	0.1812	L	0.33624	1.015	0.47511	D	0.999447	B;B;B;B;B	0.33549	0.417;0.028;0.247;0.16;0.016	B;B;B;B;B	0.26770	0.055;0.005;0.073;0.033;0.004	T	0.55159	-0.8184	10	0.33141	T	0.24	-23.0829	16.1873	0.81962	0.0:0.0:1.0:0.0	.	208;208;209;208;208	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.;.;.;PARF_HUMAN;.	H	209;209;208;208;208;170;93	ENSP00000360727:R209H;ENSP00000311134:R208H;ENSP00000350056:R208H;ENSP00000414081:R170H;ENSP00000360740:R93H	ENSP00000311134:R208H	R	+	2	0	C9orf86	138846561	1.000000	0.71417	0.999000	0.59377	0.701000	0.40568	5.942000	0.70203	2.056000	0.61249	0.313000	0.20887	CGC		0.493	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		25	49	0	0	0	1	0	25	49				
CNTN1	1272	broad.mit.edu	37	12	41419010	41419010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41419010G>A	ENST00000551295.2	+	21	2699	c.2582G>A	c.(2581-2583)aGc>aAc	p.S861N	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.S861N|CNTN1_ENST00000348761.2_Missense_Mutation_p.S850N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	861	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAAGTCACCAGCCAAGAGTAC	0.483																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2581-2583)aGc>aAc		contactin 1							139.0	156.0	150.0					12																	41419010		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41419010G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2582G>A	12.37:g.41419010G>A	ENSP00000447006:p.Ser861Asn					CNTN1_ENST00000348761.2_Missense_Mutation_p.S850N|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.S861N	p.S861N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			21	2699	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	861			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2582G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163680	0.38217	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.56776	0.44;0.44;0.44	4.78	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.294483	0.39615	N	0.001316	T	0.32912	0.0845	N	0.16708	0.43	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.005;0.008	T	0.20739	-1.0266	10	0.51188	T	0.08	.	5.9574	0.19281	0.1265:0.1965:0.677:0.0	.	850;861	Q12860-2;Q12860	.;CNTN1_HUMAN	N	861;861;850	ENSP00000447006:S861N;ENSP00000325660:S861N;ENSP00000261160:S850N	ENSP00000325660:S861N	S	+	2	0	CNTN1	39705277	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	3.847000	0.55895	2.574000	0.86865	0.655000	0.94253	AGC		0.483	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		49	179	0	0	0	1	0	49	179				
IL1RL1	9173	broad.mit.edu	37	2	102958729	102958729	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958729A>G	ENST00000233954.1	+	6	928	c.657A>G	c.(655-657)caA>caG	p.Q219Q	IL1RL1_ENST00000409584.1_Silent_p.Q219Q|IL1RL1_ENST00000404917.2_Silent_p.Q102Q|IL1RL1_ENST00000311734.2_Silent_p.Q219Q	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	219	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCCCTGCACAAAATGAAATAA	0.353																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(655-657)caA>caG		interleukin 1 receptor-like 1							86.0	91.0	90.0					2																	102958729		2202	4300	6502	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102958729A>G	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.657A>G	2.37:g.102958729A>G						IL1RL1_ENST00000404917.2_Silent_p.Q102Q|IL1RL1_ENST00000233954.1_Silent_p.Q219Q|IL1RL1_ENST00000409584.1_Silent_p.Q219Q	p.Q219Q			Q01638	ILRL1_HUMAN			6	996	+			219			Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.657A>G	CCDS2057.1																																																																																				0.353	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		18	38	0	0	0	1	0	18	38				
CCDC138	165055	broad.mit.edu	37	2	109411018	109411018	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109411018C>A	ENST00000295124.4	+	5	477	c.417C>A	c.(415-417)acC>acA	p.T139T	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Silent_p.T139T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	139										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTAATACGACCTCATCGAGAC	0.388																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(415-417)acC>acA		coiled-coil domain containing 138							86.0	84.0	85.0					2																	109411018		2203	4300	6503	SO:0001819	synonymous_variant	165055							g.chr2:109411018C>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.417C>A	2.37:g.109411018C>A						CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Silent_p.T139T	p.T139T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			5	477	+			139					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.417C>A	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.193474	0.01594	.	.	ENSG00000163006	ENST00000456512	.	.	.	5.15	1.09	0.20402	.	.	.	.	.	T	0.24509	0.0594	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22312	-1.0220	4	.	.	.	-16.5997	4.2908	0.10878	0.0:0.3731:0.287:0.3398	.	.	.	.	H	37	.	.	P	+	2	0	CCDC138	108777450	0.000000	0.05858	0.011000	0.14972	0.090000	0.18270	-0.131000	0.10482	0.668000	0.31126	0.561000	0.74099	CCT		0.388	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		5	57	1	0	2.0095e-06	1	2.31757e-06	5	57				
RAP1GAP	5909	broad.mit.edu	37	1	21946512	21946512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21946512A>G	ENST00000374765.4	-	4	214	c.14T>C	c.(13-15)aTg>aCg	p.M5T	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.M5T|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M69T|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M5T|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M36T	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	5	GoLoco. {ECO:0000255|PROSITE- ProRule:PRU00097}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTCACCTGCATCTTCTCAAT	0.617																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(13-15)aTg>aCg		RAP1 GTPase activating protein							68.0	69.0	69.0					1																	21946512		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21946512A>G	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.14T>C	1.37:g.21946512A>G	ENSP00000363897:p.Met5Thr					RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M5T|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.M5T|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M69T|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M36T	p.M5T	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	5	316	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	5			GoLoco.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.14T>C	CCDS218.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354607	0.61293	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757;ENST00000317967;ENST00000447293	D;D;D;D;T	0.89617	-2.54;-2.5;-2.49;-2.51;1.4	4.5	4.5	0.54988	GoLoco motif (3);	0.056240	0.64402	D	0.000002	D	0.89681	0.6785	L	0.54323	1.7	0.48696	D	0.999695	P;P;P;P	0.48640	0.835;0.891;0.913;0.891	B;B;P;B	0.52823	0.371;0.412;0.71;0.412	D	0.90248	0.4291	10	0.87932	D	0	-38.5561	10.5161	0.44889	1.0:0.0:0.0:0.0	.	5;5;36;5	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	T	69;36;5;5;36;5;69;147;5;5	ENSP00000290101:M69T;ENSP00000363893:M36T;ENSP00000441661:M5T;ENSP00000363897:M5T;ENSP00000352739:M69T	ENSP00000290101:M69T	M	-	2	0	RAP1GAP	21819099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.043000	0.76572	1.796000	0.52611	0.459000	0.35465	ATG		0.617	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		14	38	0	0	0	1	0	14	38				
HHIPL2	79802	broad.mit.edu	37	1	222713568	222713568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222713568C>T	ENST00000343410.6	-	4	1292	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	412					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCATAGATGGCGGGGTGGGCC	0.587																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1234-1236)Gcc>Acc		HHIP-like 2							69.0	68.0	68.0					1																	222713568		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713568C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1234G>A	1.37:g.222713568C>T	ENSP00000342118:p.Ala412Thr						p.A412T	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1292	-			412					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1234G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510505	0.64522	.	.	ENSG00000143512	ENST00000343410	T	0.13778	2.56	5.12	3.19	0.36642	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.306550	0.32204	N	0.006434	T	0.09158	0.0226	N	0.21194	0.64	0.32335	N	0.560592	B	0.32829	0.386	B	0.29598	0.104	T	0.08207	-1.0733	10	0.72032	D	0.01	-4.2335	10.3199	0.43760	0.0:0.832:0.0:0.168	.	412	Q6UWX4	HIPL2_HUMAN	T	412	ENSP00000342118:A412T	ENSP00000342118:A412T	A	-	1	0	HHIPL2	220780191	0.998000	0.40836	0.080000	0.20451	0.984000	0.73092	4.517000	0.60503	0.493000	0.27837	0.491000	0.48974	GCC		0.587	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		29	41	0	0	0	1	0	29	41				
KCNT1	57582	broad.mit.edu	37	9	138662884	138662884	+	Nonsense_Mutation	SNP	C	C	T	rs568916509		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138662884C>T	ENST00000263604.3	+	18	1894	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	KCNT1_ENST00000491806.2_Nonsense_Mutation_p.Q618*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000298480.5_Nonsense_Mutation_p.Q651*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.Q612*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.Q606*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.Q651*			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	632					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTTCTCGGGGCAGGGGCTGCA	0.647																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1951-1953)Cag>Tag		potassium channel, subfamily T, member 1							42.0	38.0	40.0					9																	138662884		2203	4300	6503	SO:0001587	stop_gained	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138662884C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1894C>T	9.37:g.138662884C>T	ENSP00000263604:p.Gln632*					KCNT1_ENST00000490355.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.Q612*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.Q606*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.Q651*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.Q618*	p.Q651*			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	18	2025	+		Myeloproliferative disorder(178;0.0821)	651					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Nonsense_Mutation	SNP	ENST00000263604.3	37	c.1951C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.594210	0.96602	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	.	.	.	3.62	3.62	0.41486	.	0.354409	0.24262	U	0.040073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-24.3803	9.1475	0.36942	0.4014:0.5986:0.0:0.0	.	.	.	.	X	606;651;651;612;618;632;632;632	.	ENSP00000263604:Q632X	Q	+	1	0	KCNT1	137802705	0.822000	0.29219	0.781000	0.31783	0.496000	0.33645	2.402000	0.44521	1.842000	0.53543	0.467000	0.42956	CAG		0.647	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		11	7	0	0	0	1	0	11	7				
ZDHHC16	84287	broad.mit.edu	37	10	99213591	99213591	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213591G>A	ENST00000370854.3	+	7	915	c.726G>A	c.(724-726)gcG>gcA	p.A242A	ZDHHC16_ENST00000353979.3_Silent_p.A203A|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000393760.1_Silent_p.A242A|ZDHHC16_ENST00000370842.2_Intron|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000352634.4_Intron	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	242					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AACTACAGGCGGTTGCCAACC	0.577																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(724-726)gcG>gcA		zinc finger, DHHC-type containing 16							63.0	68.0	66.0					10																	99213591		2203	4300	6503	SO:0001819	synonymous_variant	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99213591G>A	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.726G>A	10.37:g.99213591G>A						ZDHHC16_ENST00000370842.2_Intron|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370854.3_Silent_p.A242A|ZDHHC16_ENST00000353979.3_Silent_p.A203A|ZDHHC16_ENST00000352634.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR	p.A242A	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	8	1075	+		Colorectal(252;0.0846)	242					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Silent	SNP	ENST00000370854.3	37	c.726G>A	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	8.940	0.965545	0.18583	.	.	ENSG00000171307	ENST00000417044	.	.	.	5.88	3.98	0.46160	.	.	.	.	.	T	0.69504	0.3118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67345	-0.5694	4	.	.	.	-24.5189	14.052	0.64742	0.0:0.0:0.605:0.395	.	.	.	.	Q	184	.	.	R	+	2	0	ZDHHC16	99203581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.091000	0.30915	0.779000	0.33543	0.511000	0.50034	CGG		0.577	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		5	44	0	0	0	1	0	5	44				
SEC24B	10427	broad.mit.edu	37	4	110452580	110452580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110452580C>T	ENST00000265175.5	+	20	3347	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	SEC24B_ENST00000399100.2_Missense_Mutation_p.R1063C|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1128C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1098					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATGATCGTGTATATGC	0.358																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3292-3294)Cgt>Tgt		SEC24 family member B							115.0	109.0	111.0					4																	110452580		1886	4132	6018	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110452580C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3292C>T	4.37:g.110452580C>T	ENSP00000265175:p.Arg1098Cys					SEC24B_ENST00000399100.2_Missense_Mutation_p.R1063C|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1128C	p.R1098C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	20	3347	+		Hepatocellular(203;0.217)	1098					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3292C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487033	0.84854	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.65549	-0.16;-0.16;-0.16	5.48	5.48	0.80851	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88776	0.3267	10	0.87932	D	0	-18.6944	14.2207	0.65826	0.1492:0.8508:0.0:0.0	.	1012;697;1128;1063;1098	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	C	1128;1063;1098	ENSP00000428564:R1128C;ENSP00000382051:R1063C;ENSP00000265175:R1098C	ENSP00000265175:R1098C	R	+	1	0	SEC24B	110672029	1.000000	0.71417	0.750000	0.31169	0.899000	0.52679	5.847000	0.69451	2.579000	0.87056	0.650000	0.86243	CGT		0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			29	51	0	0	0	1	0	29	51				
PDE4DIP	9659	broad.mit.edu	37	1	144865846	144865846	+	Nonsense_Mutation	SNP	G	G	A	rs376978550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144865846G>A	ENST00000369354.3	-	35	5923	c.5734C>T	c.(5734-5736)Cga>Tga	p.R1912*	PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R2048*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1997*|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1806*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1912					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAGTCTTCGATTGTCTTCC	0.478			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6142-6144)Cga>Tga		phosphodiesterase 4D interacting protein		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	273.0	274.0	274.0		5416,5734,5734	4.8	0.8	1		274	1,8591		0,1,4295	no	stop-gained,stop-gained,stop-gained	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,	1806/2241,1912/2363,1912/2347	144865846	1,12997	2203	4296	6499	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144865846G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5734C>T	1.37:g.144865846G>A	ENSP00000358360:p.Arg1912*					PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1997*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1806*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1912*	p.R2048*			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	38	6180	-			1912					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.6142C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	46	12.468161	0.99670	0.0	1.16E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	5.72	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.685	0.62511	0.0:0.0:0.8443:0.1557	.	.	.	.	X	1806;1912;1912;1997;2048	.	ENSP00000327209:R1806X	R	-	1	2	PDE4DIP	143577203	0.952000	0.32445	0.830000	0.32933	0.236000	0.25371	1.452000	0.35156	1.375000	0.46248	0.650000	0.86243	CGA		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		15	358	0	0	0	1	0	15	358				
GRK1	6011	broad.mit.edu	37	13	114325951	114325951	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325951A>G	ENST00000335678.6	+	3	1197	c.965A>G	c.(964-966)aAc>aGc	p.N322S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGCCCGAGAACGTGCTGCTG	0.473																																						ENST00000335678.6																			0				ovary(2)	2						c.(964-966)aAc>aGc		G protein-coupled receptor kinase 1							18.0	20.0	19.0					13																	114325951		2054	4189	6243	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114325951A>G			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.965A>G	13.37:g.114325951A>G	ENSP00000334876:p.Asn322Ser						p.N322S	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		3	1197	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	322			Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.965A>G		.	.	.	.	.	.	.	.	.	.	a	19.55	3.848998	0.71603	.	.	ENSG00000185974	ENST00000335678	D	0.91945	-2.94	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	.	.	.	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	D	0.95840	0.8865	9	0.87932	D	0	-60.0284	11.925	0.52814	1.0:0.0:0.0:0.0	.	322	Q15835	RK_HUMAN	S	322	ENSP00000334876:N322S	ENSP00000334876:N322S	N	+	2	0	GRK1	113373952	1.000000	0.71417	0.995000	0.50966	0.710000	0.40934	8.279000	0.89901	1.745000	0.51790	0.414000	0.27820	AAC		0.473	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		4	4	0	0	0	1	0	4	4				
WAPAL	23063	broad.mit.edu	37	10	88218790	88218790	+	Silent	SNP	G	G	A	rs143256744	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88218790G>A	ENST00000298767.5	-	12	3085	c.2613C>T	c.(2611-2613)taC>taT	p.Y871Y	WAPAL_ENST00000263070.7_Silent_p.Y138Y|WAPAL_ENST00000372075.1_Silent_p.Y138Y	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	871	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.Y871Y(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ATGCTATCAAGTAGCTTTGAT	0.284													G|||	2	0.000399361	0.0	0.0	5008	,	,		19308	0.002		0.0	False		,,,				2504	0.0					ENST00000298767.5																			1	Substitution - coding silent(1)	p.Y871Y(1)	stomach(1)	breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(2611-2613)taC>taT		wings apart-like homolog (Drosophila)							105.0	105.0	105.0					10																	88218790		2202	4299	6501	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88218790G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2613C>T	10.37:g.88218790G>A						WAPAL_ENST00000372075.1_Silent_p.Y138Y|WAPAL_ENST00000263070.7_Silent_p.Y138Y	p.Y871Y	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			12	3085	-			871			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.2613C>T	CCDS7375.1																																																																																				0.284	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		22	44	0	0	0	1	0	22	44				
LRRC46	90506	broad.mit.edu	37	17	45914418	45914418	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45914418G>A	ENST00000269025.4	+	8	1261	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	300										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCAGCCACAGCCCCCAAGGC	0.572																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(898-900)Gcc>Acc		leucine rich repeat containing 46							62.0	68.0	66.0					17																	45914418		2203	4300	6503	SO:0001583	missense	90506							g.chr17:45914418G>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.898G>A	17.37:g.45914418G>A	ENSP00000269025:p.Ala300Thr						p.A300T	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN			8	1261	+			300					A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	c.898G>A	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888562	0.33348	.	.	ENSG00000141294	ENST00000269025	T	0.74315	-0.83	5.45	3.42	0.39159	.	0.855308	0.10144	N	0.710533	T	0.58921	0.2156	N	0.17674	0.51	0.09310	N	1	B;B	0.17038	0.02;0.01	B;B	0.15870	0.014;0.005	T	0.44682	-0.9312	10	0.27785	T	0.31	-0.7953	8.8531	0.35212	0.1686:0.0:0.8314:0.0	.	300;300	A8K9Q0;Q96FV0	.;LRC46_HUMAN	T	300	ENSP00000269025:A300T	ENSP00000269025:A300T	A	+	1	0	LRRC46	43269417	0.010000	0.17322	0.001000	0.08648	0.059000	0.15707	1.846000	0.39289	0.656000	0.30886	0.644000	0.83932	GCC		0.572	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		42	63	0	0	0	1	0	42	63				
RIMKLA	284716	broad.mit.edu	37	1	42875795	42875795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42875795C>T	ENST00000431473.3	+	4	751	c.622C>T	c.(622-624)Cag>Tag	p.Q208*		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	208	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGTAGGGGGCCAGGTCATAGG	0.527																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(622-624)Cag>Tag		ribosomal modification protein rimK-like family member A							135.0	131.0	132.0					1																	42875795		2203	4300	6503	SO:0001587	stop_gained	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42875795C>T	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.622C>T	1.37:g.42875795C>T	ENSP00000414330:p.Gln208*						p.Q208*	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			4	751	+			208			ATP-grasp.		Q5VUS5	Nonsense_Mutation	SNP	ENST00000431473.3	37	c.622C>T	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969429	0.92855	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.74	5.74	0.90152	.	0.254272	0.41097	D	0.000950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-25.7577	17.4341	0.87546	0.0:1.0:0.0:0.0	.	.	.	.	X	84;208	.	ENSP00000387064:Q84X	Q	+	1	0	RIMKLA	42648382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.323000	0.65858	2.712000	0.92718	0.650000	0.86243	CAG		0.527	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		5	72	0	0	0	1	0	5	72				
ROCK2	9475	broad.mit.edu	37	2	11361333	11361333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11361333C>A	ENST00000315872.6	-	9	1698	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ROCK2_ENST00000401753.1_Missense_Mutation_p.R174I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	417	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAATTTTCTCTATAGTAGGT	0.308																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(1249-1251)aGa>aTa		Rho-associated, coiled-coil containing protein kinase 2							96.0	93.0	94.0					2																	11361333		1800	4068	5868	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11361333C>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1250G>T	2.37:g.11361333C>A	ENSP00000317985:p.Arg417Ile					ROCK2_ENST00000401753.1_Missense_Mutation_p.R174I	p.R417I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	9	1698	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		417			AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.1250G>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283541	0.40394	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	T;T	0.64618	-0.11;0.96	5.38	5.38	0.77491	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.047936	0.85682	D	0.000000	T	0.64238	0.2580	M	0.63843	1.955	0.54753	D	0.999988	B	0.17268	0.021	B	0.21708	0.036	T	0.62220	-0.6900	10	0.56958	D	0.05	.	19.1367	0.93430	0.0:1.0:0.0:0.0	.	417	O75116	ROCK2_HUMAN	I	417;174	ENSP00000317985:R417I;ENSP00000385509:R174I	ENSP00000261535:R417I	R	-	2	0	ROCK2	11278784	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.987000	0.40687	2.521000	0.84997	0.585000	0.79938	AGA		0.308	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			5	125	1	0	0.00116845	1	0.00124821	5	125				
TSPAN32	10077	broad.mit.edu	37	11	2334930	2334930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2334930C>T	ENST00000182290.4	+	5	538	c.401C>T	c.(400-402)gCg>gTg	p.A134V	TSPAN32_ENST00000381121.3_Missense_Mutation_p.A134V|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.A123V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	134					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TATGAGCAGGCGATGAAAGGT	0.662																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(400-402)gCg>gTg		tetraspanin 32							81.0	51.0	61.0					11																	2334930		2201	4298	6499	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2334930C>T	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.401C>T	11.37:g.2334930C>T	ENSP00000182290:p.Ala134Val					TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.A123V|TSPAN32_ENST00000381121.3_Missense_Mutation_p.A134V	p.A134V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	5	538	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	134					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.401C>T	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858305	0.32791	.	.	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000381117	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	3.75	3.75	0.43078	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.152770	0.29609	U	0.011666	D	0.89065	0.6609	L	0.47716	1.5	0.36517	D	0.869931	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0;1.0	D;P;D;D;D;D	0.87578	0.968;0.863;0.997;0.923;0.998;0.997	D	0.87153	0.2210	10	0.15499	T	0.54	-17.1407	11.448	0.50136	0.0:1.0:0.0:0.0	.	121;134;79;134;134;123	B4DQ90;Q96QS1-5;G3XAG6;Q96QS1-3;Q96QS1;F8WCN6	.;.;.;.;TSN32_HUMAN;.	V	134;134;123;79	ENSP00000182290:A134V;ENSP00000370513:A134V;ENSP00000405205:A123V;ENSP00000370509:A79V	ENSP00000182290:A134V	A	+	2	0	TSPAN32	2291506	0.140000	0.22579	0.374000	0.26016	0.041000	0.13682	0.285000	0.18883	1.804000	0.52760	0.484000	0.47621	GCG		0.662	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		3	5	0	0	0	1	0	3	5				
ZFYVE26	23503	broad.mit.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68274397G>A	ENST00000347230.4	-	5	742	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	202					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(604-606)Cgg>Tgg		zinc finger, FYVE domain containing 26							83.0	83.0	83.0					14																	68274397		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274397G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.604C>T	14.37:g.68274397G>A	ENSP00000251119:p.Arg202Trp					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	742	-			202					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.604C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564494	0.27915	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.31769	1.63;1.48	5.51	-0.51	0.11973	.	0.809720	0.11201	N	0.588792	T	0.32882	0.0844	L	0.44542	1.39	0.09310	N	1	D;D;D	0.69078	0.997;0.995;0.985	P;P;B	0.50708	0.533;0.648;0.232	T	0.27739	-1.0065	10	0.87932	D	0	-0.0041	9.6873	0.40107	0.0:0.156:0.3128:0.5312	.	202;202;202	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	202	ENSP00000251119:R202W;ENSP00000450603:R202W	ENSP00000251119:R202W	R	-	1	2	ZFYVE26	67344150	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.813000	0.27225	-0.237000	0.09739	-2.067000	0.00394	CGG		0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		59	77	0	0	0	1	0	59	77				
ZNHIT6	54680	broad.mit.edu	37	1	86173606	86173606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173606G>A	ENST00000370574.3	-	1	495	c.362C>T	c.(361-363)aCg>aTg	p.T121M	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.T82M			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	121	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACTACTATCCGTCTCCTGCTT	0.507																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(244-246)aCg>aTg		zinc finger, HIT-type containing 6							159.0	144.0	149.0					1																	86173606		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173606G>A	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.362C>T	1.37:g.86173606G>A	ENSP00000359606:p.Thr121Met					ZNHIT6_ENST00000370574.3_Missense_Mutation_p.T121M	p.T82M	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			2	393	-			121			Glu-rich.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.245C>T	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380168	0.24944	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.42131	1.0;0.98	4.45	-2.72	0.05968	.	1.266630	0.05646	N	0.584249	T	0.04679	0.0127	N	0.04508	-0.205	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.20009	-1.0288	10	0.19590	T	0.45	0.0061	1.1812	0.01845	0.4206:0.1485:0.2863:0.1446	.	82;121	B4DP13;Q9NWK9	.;BCD1_HUMAN	M	82;121	ENSP00000414344:T82M;ENSP00000359606:T121M	ENSP00000359606:T121M	T	-	2	0	ZNHIT6	85946194	0.000000	0.05858	0.050000	0.19076	0.933000	0.57130	-0.684000	0.05173	-0.597000	0.05813	-0.339000	0.08088	ACG		0.507	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		52	27	0	0	0	1	0	52	27				
PLXNC1	10154	broad.mit.edu	37	12	94645258	94645258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94645258G>A	ENST00000258526.4	+	15	3084	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	945					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTCCACATGGTATTTTCTGA	0.473																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2833-2835)tgG>tgA		plexin C1							258.0	210.0	227.0					12																	94645258		2203	4300	6503	SO:0001587	stop_gained	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94645258G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2835G>A	12.37:g.94645258G>A	ENSP00000258526:p.Trp945*						p.W945*	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			15	3084	+			945					Q59H25	Nonsense_Mutation	SNP	ENST00000258526.4	37	c.2835G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	43	10.500975	0.99417	.	.	ENSG00000136040	ENST00000258526	.	.	.	5.79	5.79	0.91817	.	0.334721	0.28821	N	0.014034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.8819	0.63686	0.0:0.0:0.8479:0.1521	.	.	.	.	X	945	.	ENSP00000258526:W945X	W	+	3	0	PLXNC1	93169389	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.743000	0.38258	2.750000	0.94351	0.561000	0.74099	TGG		0.473	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			16	23	0	0	0	1	0	16	23				
TMEM132D	121256	broad.mit.edu	37	12	129558831	129558831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129558831G>T	ENST00000422113.2	-	9	3215	c.2889C>A	c.(2887-2889)gaC>gaA	p.D963E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D501E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	963					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCCAACCCAGTCATGAGAGT	0.468																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2887-2889)gaC>gaA		transmembrane protein 132D							131.0	117.0	122.0					12																	129558831		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558831G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2889C>A	12.37:g.129558831G>T	ENSP00000408581:p.Asp963Glu					TMEM132D_ENST00000389441.4_Missense_Mutation_p.D501E	p.D963E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3215	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	963					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2889C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558068	0.65538	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13089	2.62;3.37	4.14	4.14	0.48551	.	0.074341	0.53938	D	0.000041	T	0.40956	0.1138	M	0.87456	2.885	0.54753	D	0.999989	D;D	0.57899	0.971;0.981	P;D	0.63381	0.721;0.914	T	0.51764	-0.8664	9	.	.	.	-25.7735	16.7565	0.85501	0.0:0.0:1.0:0.0	.	963;501	Q14C87;Q14C87-2	T132D_HUMAN;.	E	501;963	ENSP00000374092:D501E;ENSP00000408581:D963E	.	D	-	3	2	TMEM132D	128124784	1.000000	0.71417	0.916000	0.36221	0.516000	0.34256	5.218000	0.65257	2.002000	0.58637	0.411000	0.27672	GAC		0.468	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		12	97	1	0	0.000151284	1	0.000166931	12	97				
TTN	7273	broad.mit.edu	37	2	179588275	179588275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179588275G>A	ENST00000591111.1	-	72	20825	c.20601C>T	c.(20599-20601)aaC>aaT	p.N6867N	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.N5940N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.N7184N|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12458	Ig-like 50.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAATAGATGTTGCACCGGT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21550-21552)aaC>aaT		titin							84.0	80.0	81.0					2																	179588275		1877	4100	5977	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588275G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20601C>T	2.37:g.179588275G>A						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.N5940N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Silent_p.N6867N	p.N7184N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	21776	-			6867			Ig-like 53.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.21552C>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	37	0	0	0	1	0	8	37				
CDC42BPB	9578	broad.mit.edu	37	14	103434650	103434650	+	Silent	SNP	G	G	A	rs144299645		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103434650G>A	ENST00000361246.2	-	16	2574	c.2286C>T	c.(2284-2286)taC>taT	p.Y762Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTCTCGTTCGTATTTATCTT	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18512	0.0		0.0	False		,,,				2504	0.0					ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(2284-2286)taC>taT		CDC42 binding protein kinase beta (DMPK-like)		G		1,4405	2.1+/-5.4	0,1,2202	220.0	202.0	208.0		2286	-0.2	0.1	14	dbSNP_134	208	0,8600		0,0,4300	no	coding-synonymous	CDC42BPB	NM_006035.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		762/1712	103434650	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103434650G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2286C>T	14.37:g.103434650G>A							p.Y762Y	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	16	2574	-		Melanoma(154;0.155)	762						Silent	SNP	ENST00000361246.2	37	c.2286C>T	CCDS9978.1																																																																																				0.388	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		47	83	0	0	0	1	0	47	83				
CES2	8824	broad.mit.edu	37	16	66974239	66974239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66974239G>A	ENST00000317091.4	+	4	1714	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.G244S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	180					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GTACCGCCTGGGTGTCCTGGG	0.607																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(730-732)Ggt>Agt		carboxylesterase 2							200.0	164.0	176.0					16																	66974239		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66974239G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.730G>A	16.37:g.66974239G>A	ENSP00000317842:p.Gly244Ser					CES2_ENST00000417689.1_Missense_Mutation_p.G244S	p.G244S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	4	1714	+		Ovarian(137;0.0563)	180					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.730G>A	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478138	0.96291	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.79352	-1.26;-1.26	5.35	5.35	0.76521	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000002	D	0.90157	0.6924	M	0.90650	3.135	0.58432	D	0.999998	D	0.54207	0.965	D	0.68192	0.956	D	0.91614	0.5305	10	0.87932	D	0	.	17.8649	0.88793	0.0:0.0:1.0:0.0	.	180	O00748	EST2_HUMAN	S	244	ENSP00000394452:G244S;ENSP00000317842:G244S	ENSP00000317842:G244S	G	+	1	0	CES2	65531740	1.000000	0.71417	0.861000	0.33841	0.997000	0.91878	8.871000	0.92346	2.791000	0.96007	0.650000	0.86243	GGT		0.607	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		35	33	0	0	0	1	0	35	33				
MEIS2	4212	broad.mit.edu	37	15	37184477	37184477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37184477G>A	ENST00000561208.1	-	12	1749	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.P437L|MEIS2_ENST00000382766.2_Missense_Mutation_p.P437L|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000219869.9_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	444	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GTGGGTAGGGGGTCCTCCGTG	0.512																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1309-1311)cCc>cTc		Meis homeobox 2							242.0	252.0	249.0					15																	37184477		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37184477G>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1331C>T	15.37:g.37184477G>A	ENSP00000453793:p.Pro444Leu					MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.P444L|MEIS2_ENST00000382766.2_Missense_Mutation_p.P437L|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000559085.1_3'UTR	p.P437L	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	13	1756	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	444					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.1310C>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761330	0.31228	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.88124	-2.34;-2.34	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	L	0.59436	1.845	0.80722	D	1	P;B;B;B	0.35348	0.496;0.096;0.02;0.016	B;B;B;B	0.32864	0.154;0.031;0.012;0.02	D	0.86205	0.1621	10	0.62326	D	0.03	-27.1564	17.0859	0.86611	0.0:0.0:1.0:0.0	.	437;444;424;140	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	L	444;437;437	ENSP00000341400:P437L;ENSP00000372216:P437L	ENSP00000326296:P444L	P	-	2	0	MEIS2	34971769	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.587000	0.98229	2.672000	0.90937	0.655000	0.94253	CCC		0.512	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		8	343	0	0	0	1	0	8	343				
CDH20	28316	broad.mit.edu	37	18	59166563	59166563	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59166563A>G	ENST00000262717.4	+	3	789	c.391A>G	c.(391-393)Act>Gct	p.T131A	CDH20_ENST00000536675.2_Missense_Mutation_p.T131A|CDH20_ENST00000538374.1_Missense_Mutation_p.T131A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCCCAGTATACTCTAAGGGC	0.542																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(391-393)Act>Gct		cadherin 20, type 2							53.0	47.0	49.0					18																	59166563		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166563A>G	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.391A>G	18.37:g.59166563A>G	ENSP00000262717:p.Thr131Ala					CDH20_ENST00000536675.2_Missense_Mutation_p.T131A|CDH20_ENST00000538374.1_Missense_Mutation_p.T131A	p.T131A			Q9HBT6	CAD20_HUMAN			3	789	+		Colorectal(73;0.186)	131			Cadherin 1.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.391A>G	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887696	0.33348	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.51325	0.71;0.71;0.71	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.207947	0.50627	D	0.000101	T	0.57725	0.2073	M	0.79614	2.46	0.28596	N	0.909414	B	0.30281	0.275	B	0.38500	0.275	T	0.59490	-0.7445	10	0.51188	T	0.08	.	16.1685	0.81786	1.0:0.0:0.0:0.0	.	131	Q9HBT6	CAD20_HUMAN	A	131	ENSP00000444767:T131A;ENSP00000442226:T131A;ENSP00000262717:T131A	ENSP00000262717:T131A	T	+	1	0	CDH20	57317543	1.000000	0.71417	0.138000	0.22173	0.311000	0.27955	5.538000	0.67193	2.225000	0.72522	0.528000	0.53228	ACT		0.542	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		8	13	0	0	0	1	0	8	13				
PTPN9	5780	broad.mit.edu	37	15	75809691	75809691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75809691C>A	ENST00000306726.2	-	5	949	c.437G>T	c.(436-438)aGg>aTg	p.R146M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	146	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGTCCATTCCTCTGAGTTTC	0.398																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(436-438)aGg>aTg		protein tyrosine phosphatase, non-receptor type 9							111.0	90.0	97.0					15																	75809691		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75809691C>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.437G>T	15.37:g.75809691C>A	ENSP00000303554:p.Arg146Met						p.R146M	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			5	949	-			146			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.437G>T	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592122	0.86953	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84442	-1.85	5.28	5.28	0.74379	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.138450	0.64402	D	0.000004	D	0.91898	0.7435	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.92680	0.6157	10	0.87932	D	0	.	17.5241	0.87794	0.0:1.0:0.0:0.0	.	146	P43378	PTN9_HUMAN	M	146;136	ENSP00000303554:R146M	ENSP00000303554:R146M	R	-	2	0	PTPN9	73596746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.539000	0.82063	2.494000	0.84150	0.485000	0.47835	AGG		0.398	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			4	44	1	0	0.00909568	1	0.00947522	4	44				
RRBP1	6238	broad.mit.edu	37	20	17608171	17608171	+	Missense_Mutation	SNP	G	G	A	rs550361889		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17608171G>A	ENST00000377813.1	-	10	3209	c.2906C>T	c.(2905-2907)gCg>gTg	p.A969V	RRBP1_ENST00000360807.4_Missense_Mutation_p.A536V|RRBP1_ENST00000455029.2_Missense_Mutation_p.A310V|RRBP1_ENST00000246043.4_Missense_Mutation_p.A969V|RRBP1_ENST00000377807.2_Missense_Mutation_p.A536V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	969					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCATCCCGCGCCTGGCCCGC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17235	0.0		0.0	False		,,,				2504	0.0					ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2905-2907)gCg>gTg		ribosome binding protein 1							30.0	32.0	32.0					20																	17608171		2202	4297	6499	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17608171G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2906C>T	20.37:g.17608171G>A	ENSP00000367044:p.Ala969Val					RRBP1_ENST00000455029.2_Missense_Mutation_p.A310V|RRBP1_ENST00000246043.4_Missense_Mutation_p.A969V|RRBP1_ENST00000360807.4_Missense_Mutation_p.A536V|RRBP1_ENST00000377807.2_Missense_Mutation_p.A536V	p.A969V			Q9P2E9	RRBP1_HUMAN			10	3209	-			969					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2906C>T		.	.	.	.	.	.	.	.	.	.	G	12.16	1.854231	0.32791	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.44482	1.51;1.89;1.51;1.89;0.92	3.66	2.67	0.31697	.	.	.	.	.	T	0.29588	0.0738	L	0.36672	1.1	0.26375	N	0.976834	B	0.19200	0.034	B	0.17433	0.018	T	0.11227	-1.0596	9	0.30854	T	0.27	-11.2543	6.1295	0.20197	0.2325:0.0:0.7675:0.0	.	536	Q9P2E9-3	.	V	536;969;536;969;310	ENSP00000354045:A536V;ENSP00000367044:A969V;ENSP00000367038:A536V;ENSP00000246043:A969V;ENSP00000401206:A310V	ENSP00000246043:A969V	A	-	2	0	RRBP1	17556171	0.998000	0.40836	0.925000	0.36789	0.685000	0.39939	1.363000	0.34159	1.765000	0.52091	0.313000	0.20887	GCG		0.672	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		26	24	0	0	0	1	0	26	24				
ARHGAP20	57569	broad.mit.edu	37	11	110451634	110451634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451634G>A	ENST00000260283.4	-	16	2320	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A653V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A222V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A656V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A653V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	679					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGTGCACATGGCAGATGGGGC	0.532																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(2035-2037)gCc>gTc		Rho GTPase activating protein 20							69.0	67.0	68.0					11																	110451634		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451634G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2036C>T	11.37:g.110451634G>A	ENSP00000260283:p.Ala679Val					ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A653V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A656V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A222V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A653V	p.A679V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2320	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	679					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2036C>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395141	0.04899	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.09350	2.99;2.99;3.04;2.99;2.99;2.99;2.99	5.63	-0.754	0.11065	.	0.553660	0.17966	N	0.156022	T	0.04861	0.0131	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.40194	-0.9576	10	0.16896	T	0.51	.	2.2915	0.04139	0.1193:0.4288:0.2471:0.2048	.	653;679;656	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	679;653;222;656;643;653;643	ENSP00000260283:A679V;ENSP00000349660:A653V;ENSP00000437905:A222V;ENSP00000432076:A656V;ENSP00000436319:A643V;ENSP00000436522:A653V;ENSP00000431399:A643V	ENSP00000260283:A679V	A	-	2	0	ARHGAP20	109956844	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.058000	0.11750	-0.407000	0.07576	-1.862000	0.00560	GCC		0.532	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		31	30	0	0	0	1	0	31	30				
CECR6	27439	broad.mit.edu	37	22	17601078	17601078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17601078C>T	ENST00000331437.3	-	1	1065	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CECR6_ENST00000399875.1_Intron|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	314	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCCAGGTAGGCGAAGGCGAAC	0.731																																						ENST00000331437.3																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(940-942)Gcc>Acc		cat eye syndrome chromosome region, candidate 6							50.0	42.0	45.0					22																	17601078		2201	4294	6495	SO:0001583	missense	27439							g.chr22:17601078C>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.940G>A	22.37:g.17601078C>T	ENSP00000329318:p.Ala314Thr					CECR6_ENST00000399875.1_Intron	p.A314T	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1065	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	314			Ala-rich.		A8MYY1	Missense_Mutation	SNP	ENST00000331437.3	37	c.940G>A	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.646182	0.47258	.	.	ENSG00000183307	ENST00000331437	.	.	.	3.51	1.34	0.21922	.	0.000000	0.64402	U	0.000013	T	0.40546	0.1121	L	0.34521	1.04	0.40915	D	0.98426	B	0.26041	0.14	B	0.19666	0.026	T	0.18366	-1.0339	9	0.51188	T	0.08	.	7.1051	0.25358	0.0:0.7747:0.0:0.2253	.	314	Q9BXQ6	CECR6_HUMAN	T	314	.	ENSP00000329318:A314T	A	-	1	0	CECR6	15981078	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	3.689000	0.54706	0.140000	0.18849	-0.476000	0.04901	GCC		0.731	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		11	23	0	0	0	1	0	11	23				
OR52E4	390081	broad.mit.edu	37	11	5906257	5906257	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5906257T>C	ENST00000316987.2	+	1	757	c.735T>C	c.(733-735)caT>caC	p.H245H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTTCTCATGTCTGTGTTA	0.403																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(733-735)caT>caC		olfactory receptor, family 52, subfamily E, member 4							259.0	227.0	238.0					11																	5906257		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906257T>C	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.735T>C	11.37:g.5906257T>C							p.H245H	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	757	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	245					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.735T>C	CCDS31401.1																																																																																				0.403	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		99	79	0	0	0	1	0	99	79				
TRPM1	4308	broad.mit.edu	37	15	31295069	31295069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31295069C>T	ENST00000256552.6	-	28	3981	c.3834G>A	c.(3832-3834)acG>acA	p.T1278T	TRPM1_ENST00000542188.1_Silent_p.T1295T|TRPM1_ENST00000397795.2_Silent_p.T1256T|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGAAGATACGTTGCCTCAC	0.453																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3883-3885)acG>acA		transient receptor potential cation channel, subfamily M, member 1							93.0	94.0	94.0					15																	31295069		2073	4210	6283	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31295069C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3834G>A	15.37:g.31295069C>T						RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.T1278T|TRPM1_ENST00000397795.2_Silent_p.T1256T	p.T1295T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4198	-		all_lung(180;1.92e-11)	1256						Silent	SNP	ENST00000256552.6	37	c.3885G>A	CCDS58346.1																																																																																				0.453	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		26	46	0	0	0	1	0	26	46				
PRICKLE2	166336	broad.mit.edu	37	3	64145736	64145736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64145736G>A	ENST00000295902.6	-	4	861	c.276C>T	c.(274-276)tcC>tcT	p.S92S	PRICKLE2_ENST00000564377.1_Silent_p.S148S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	92	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCATCCAGGGAGTTGCAAT	0.493																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(274-276)tcC>tcT		prickle homolog 2 (Drosophila)							118.0	118.0	118.0					3																	64145736		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64145736G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.276C>T	3.37:g.64145736G>A						PRICKLE2_ENST00000564377.1_Silent_p.S148S	p.S92S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	4	861	-		Lung NSC(201;0.136)	92			PET.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.276C>T	CCDS2902.1																																																																																				0.493	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		38	59	0	0	0	1	0	38	59				
MRPS2	51116	broad.mit.edu	37	9	138395910	138395910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395910G>T	ENST00000371785.1	+	5	1031	c.822G>T	c.(820-822)caG>caT	p.Q274H	C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Missense_Mutation_p.Q274H|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	274					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ATCGCCTGCAGGGCCAGAAGG	0.637																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(820-822)caG>caT		mitochondrial ribosomal protein S2							27.0	32.0	30.0					9																	138395910		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395910G>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.822G>T	9.37:g.138395910G>T	ENSP00000360850:p.Gln274His					MRPS2_ENST00000241600.5_Missense_Mutation_p.Q274H|RP11-426A6.5_ENST00000415062.1_RNA	p.Q274H			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	1031	+			274					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.822G>T	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.871000	0.33069	.	.	ENSG00000122140	ENST00000371785;ENST00000241600	T;T	0.24908	1.83;1.83	4.82	1.9	0.25705	Ribosomal protein S2, flavodoxin-like domain (1);	0.537334	0.18571	N	0.137348	T	0.31702	0.0805	L	0.32530	0.975	0.29090	N	0.88218	D	0.69078	0.997	D	0.64042	0.921	T	0.08659	-1.0711	10	0.56958	D	0.05	-31.3646	7.1857	0.25799	0.1623:0.1393:0.6984:0.0	.	274	Q9Y399	RT02_HUMAN	H	274	ENSP00000360850:Q274H;ENSP00000241600:Q274H	ENSP00000241600:Q274H	Q	+	3	2	MRPS2	137535731	0.132000	0.22450	0.402000	0.26371	0.146000	0.21551	1.171000	0.31896	0.452000	0.26830	0.655000	0.94253	CAG		0.637	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			12	11	1	0	4.93089e-13	1	6.23885e-13	12	11				
HECTD4	283450	broad.mit.edu	37	12	112673464	112673464	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112673464G>A	ENST00000430131.2	-	35	5448	c.4303C>T	c.(4303-4305)Ctg>Ttg	p.L1435L	HECTD4_ENST00000377560.5_Silent_p.L1685L|HECTD4_ENST00000550722.1_Silent_p.L1711L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1435					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATCAGGGGCAGCGCCGCCCGG	0.592																																						ENST00000550722.1																			0											c.(5131-5133)Ctg>Ttg		HECT domain containing E3 ubiquitin protein ligase 4							46.0	48.0	47.0					12																	112673464		1965	4159	6124	SO:0001819	synonymous_variant	283450							g.chr12:112673464G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4303C>T	12.37:g.112673464G>A						HECTD4_ENST00000430131.2_Silent_p.L1435L|HECTD4_ENST00000377560.5_Silent_p.L1685L	p.L1711L	NM_001109662.3	NP_001103132.3					36	5526	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5131C>T																																																																																					0.592	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		11	30	0	0	0	1	0	11	30				
RASA3	22821	broad.mit.edu	37	13	114757976	114757976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114757976G>A	ENST00000334062.7	-	22	2351	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	RASA3_ENST00000389544.4_Silent_p.L712L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	744					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATCTTCTCCAGCTTGCTCATG	0.602																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2230-2232)Ctg>Ttg		RAS p21 protein activator 3							109.0	80.0	89.0					13																	114757976		2203	4298	6501	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114757976G>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2230C>T	13.37:g.114757976G>A						RASA3_ENST00000389544.4_Silent_p.L712L	p.L744L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2351	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	744					A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.2230C>T	CCDS32016.1																																																																																				0.602	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		3	24	0	0	0	1	0	3	24				
ZC3H3	23144	broad.mit.edu	37	8	144621219	144621219	+	Silent	SNP	C	C	T	rs150401031	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621219C>T	ENST00000262577.5	-	2	349	c.318G>A	c.(316-318)ccG>ccA	p.P106P	RP11-661A12.5_ENST00000530600.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	106					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CATGCTGCTGCGGGACAGGAG	0.632													C|||	4	0.000798722	0.003	0.0	5008	,	,		15371	0.0		0.0	False		,,,				2504	0.0					ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(316-318)ccG>ccA		zinc finger CCCH-type containing 3		C		19,4387	25.3+/-52.1	0,19,2184	50.0	57.0	55.0		318	-3.9	0.0	8	dbSNP_134	55	1,8591		0,1,4295	no	coding-synonymous	ZC3H3	NM_015117.2		0,20,6479	TT,TC,CC		0.0116,0.4312,0.1539		106/949	144621219	20,12978	2203	4296	6499	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144621219C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.318G>A	8.37:g.144621219C>T							p.P106P	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	349	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		106					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.318G>A	CCDS6402.1																																																																																				0.632	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		39	55	0	0	0	1	0	39	55				
DDX26B	203522	broad.mit.edu	37	X	134707898	134707898	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134707898A>G	ENST00000370752.4	+	12	1875	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	514										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCTTATGATATTCCCCGT	0.338																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1540-1542)gAt>gGt		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							48.0	48.0	48.0					X																	134707898		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134707898A>G	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1541A>G	X.37:g.134707898A>G	ENSP00000359788:p.Asp514Gly					DDX26B_ENST00000493637.1_3'UTR	p.D514G	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			12	1875	+	Acute lymphoblastic leukemia(192;6.56e-05)		514					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1541A>G	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514600	0.85389	.	.	ENSG00000165359	ENST00000370752	T	0.55052	0.54	5.5	5.5	0.81552	.	0.043517	0.85682	D	0.000000	T	0.75583	0.3869	M	0.86953	2.85	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.80369	-0.1411	10	0.72032	D	0.01	-10.0893	13.7374	0.62827	1.0:0.0:0.0:0.0	.	514;514	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	G	514	ENSP00000359788:D514G	ENSP00000359788:D514G	D	+	2	0	DDX26B	134535564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.840000	0.53500	0.486000	0.48141	GAT		0.338	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		32	41	0	0	0	1	0	32	41				
STK31	56164	broad.mit.edu	37	7	23775374	23775374	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23775374G>T	ENST00000355870.3	+	7	820	c.701G>T	c.(700-702)aGg>aTg	p.R234M	STK31_ENST00000354639.3_Missense_Mutation_p.R211M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.R234M|STK31_ENST00000428484.1_Missense_Mutation_p.R211M	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	234						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGTTCTCAGGAACCTCAAA	0.453																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(631-633)aGg>aTg		serine/threonine kinase 31							93.0	92.0	92.0					7																	23775374		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775374G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.701G>T	7.37:g.23775374G>T	ENSP00000348132:p.Arg234Met					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.R211M|STK31_ENST00000355870.3_Missense_Mutation_p.R234M|STK31_ENST00000433467.2_Missense_Mutation_p.R234M	p.R211M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			7	1096	+			234					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.632G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	9.714	1.157908	0.21454	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.09	4.21	0.49690	.	0.582599	0.18446	N	0.140993	T	0.24890	0.0604	L	0.47716	1.5	0.26526	N	0.974349	P;B	0.44877	0.845;0.371	P;B	0.46975	0.533;0.215	T	0.06110	-1.0845	10	0.56958	D	0.05	-8.2239	9.8658	0.41142	0.1684:0.0:0.8316:0.0	.	234;234	B4DZ06;Q9BXU1	.;STK31_HUMAN	M	234;234;211;211	ENSP00000348132:R234M;ENSP00000411852:R234M;ENSP00000346660:R211M;ENSP00000406146:R211M	ENSP00000346660:R211M	R	+	2	0	STK31	23741899	0.996000	0.38824	0.808000	0.32385	0.120000	0.20174	2.662000	0.46766	1.276000	0.44395	0.467000	0.42956	AGG		0.453	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		6	74	1	0	0.00116845	1	0.00124821	6	74				
TGIF1	7050	broad.mit.edu	37	18	3457843	3457843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3457843G>A	ENST00000330513.5	+	3	1414	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	TGIF1_ENST00000400167.2_Missense_Mutation_p.D222N|TGIF1_ENST00000405385.3_Missense_Mutation_p.D222N|TGIF1_ENST00000551541.1_Missense_Mutation_p.D222N|TGIF1_ENST00000548489.2_Missense_Mutation_p.D256N|TGIF1_ENST00000345133.5_Missense_Mutation_p.D222N|TGIF1_ENST00000472042.1_Missense_Mutation_p.D222N|TGIF1_ENST00000407501.2_Missense_Mutation_p.D242N|TGIF1_ENST00000343820.5_Missense_Mutation_p.D242N|TGIF1_ENST00000401449.1_Missense_Mutation_p.D222N	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	371					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TACTCCACCGGACCTCAACCA	0.493																																						ENST00000472042.1																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(664-666)Gac>Aac		TGFB-induced factor homeobox 1							86.0	84.0	85.0					18																	3457843		2203	4300	6503	SO:0001583	missense	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3457843G>A	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.1111G>A	18.37:g.3457843G>A	ENSP00000327959:p.Asp371Asn					TGIF1_ENST00000548489.2_Missense_Mutation_p.D256N|TGIF1_ENST00000343820.5_Missense_Mutation_p.D242N|TGIF1_ENST00000551541.1_Missense_Mutation_p.D222N|TGIF1_ENST00000407501.2_Missense_Mutation_p.D242N|TGIF1_ENST00000401449.1_Missense_Mutation_p.D222N|TGIF1_ENST00000405385.3_Missense_Mutation_p.D222N|TGIF1_ENST00000345133.5_Missense_Mutation_p.D222N|TGIF1_ENST00000400167.2_Missense_Mutation_p.D222N|TGIF1_ENST00000330513.5_Missense_Mutation_p.D371N	p.D222N			Q15583	TGIF1_HUMAN			2	1648	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	371					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	c.664G>A	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624009	0.66901	.	.	ENSG00000177426	ENST00000401449;ENST00000548489;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000400167;ENST00000472042	T;T;T;T;T;T;T;T;T;T;T	0.61274	0.19;0.21;0.19;0.18;0.18;0.19;0.19;0.12;0.23;0.19;0.19	5.26	5.26	0.73747	.	0.089037	0.85682	D	0.000000	T	0.76278	0.3965	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.978;0.983;0.973	T	0.76564	-0.2913	9	.	.	.	-27.863	18.869	0.92305	0.0:0.0:1.0:0.0	.	371;242;256	Q15583;Q15583-2;F8VZB6	TGIF1_HUMAN;.;.	N	222;256;222;242;242;222;222;371;222;222;222	ENSP00000385206:D222N;ENSP00000447747:D256N;ENSP00000384970:D222N;ENSP00000339631:D242N;ENSP00000384133:D242N;ENSP00000450025:D222N;ENSP00000343969:D222N;ENSP00000327959:D371N;ENSP00000449580:D222N;ENSP00000383031:D222N;ENSP00000449501:D222N	.	D	+	1	0	TGIF1	3447843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.416000	0.97383	2.474000	0.83562	0.563000	0.77884	GAC		0.493	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		24	28	0	0	0	1	0	24	28				
POU3F4	5456	broad.mit.edu	37	X	82763476	82763476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763476C>T	ENST00000373200.2	+	1	208	c.144C>T	c.(142-144)agC>agT	p.S48S	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	48					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						GAGTTCCCAGCAATGGGCATC	0.622																																						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.(142-144)agC>agT		POU class 3 homeobox 4							35.0	28.0	30.0					X																	82763476		2203	4300	6503	SO:0001819	synonymous_variant	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763476C>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.144C>T	X.37:g.82763476C>T						RP3-326L13.2_ENST00000607095.1_RNA	p.S48S	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	208	+			48					B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	c.144C>T	CCDS14450.1																																																																																				0.622	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		7	10	0	0	0	1	0	7	10				
ERI3	79033	broad.mit.edu	37	1	44687263	44687263	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44687263G>T	ENST00000372257.2	-	9	1162	c.981C>A	c.(979-981)ggC>ggA	p.G327G	ERI3_ENST00000537474.1_Silent_p.G150G|ERI3_ENST00000372259.5_Silent_p.G212G	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	327							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAGATGAAGCCTCGATAGG	0.527																																						ENST00000372257.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(979-981)ggC>ggA		ERI1 exoribonuclease family member 3							157.0	137.0	144.0					1																	44687263		2203	4300	6503	SO:0001819	synonymous_variant	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44687263G>T	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.981C>A	1.37:g.44687263G>T						ERI3_ENST00000537474.1_Silent_p.G150G|ERI3_ENST00000372259.5_Silent_p.G212G	p.G327G	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN			9	1162	-			327					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	ENST00000372257.2	37	c.981C>A	CCDS30696.1																																																																																				0.527	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		5	34	1	0	0.00198382	1	0.00210581	5	34				
AFF3	3899	broad.mit.edu	37	2	100210459	100210459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210459G>A	ENST00000409236.2	-	13	1776	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V	AFF3_ENST00000409579.1_Missense_Mutation_p.A580V|AFF3_ENST00000356421.2_Missense_Mutation_p.A580V|AFF3_ENST00000317233.4_Missense_Mutation_p.A555V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	555					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACCGCCACGGCCACGGCCGC	0.711																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1663-1665)gCc>gTc		AF4/FMR2 family, member 3							44.0	42.0	43.0					2																	100210459		2202	4299	6501	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210459G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1664C>T	2.37:g.100210459G>A	ENSP00000387207:p.Ala555Val					AFF3_ENST00000409236.1_Missense_Mutation_p.A555V|AFF3_ENST00000409579.1_Missense_Mutation_p.A580V|AFF3_ENST00000356421.2_Missense_Mutation_p.A580V	p.A555V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1899	-			555					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1664C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726023	0.30593	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.62	4.62	0.57501	.	0.197993	0.25214	N	0.032295	T	0.56411	0.1983	L	0.41236	1.265	0.33601	D	0.602286	P;P;B	0.41420	0.749;0.679;0.356	B;B;B	0.42462	0.388;0.294;0.117	T	0.63269	-0.6675	10	0.24483	T	0.36	.	8.8488	0.35188	0.1011:0.0:0.8989:0.0	.	708;555;580	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	555;580;580;555;555;708;580	ENSP00000317421:A555V;ENSP00000348793:A580V;ENSP00000386834:A580V;ENSP00000387207:A555V	ENSP00000317421:A555V	A	-	2	0	AFF3	99576891	0.865000	0.29922	0.954000	0.39281	0.075000	0.17131	4.355000	0.59424	2.564000	0.86499	0.591000	0.81541	GCC		0.711	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	71	0	0	0	1	0	4	71				
ZNRF3	84133	broad.mit.edu	37	22	29446342	29446342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446342G>A	ENST00000544604.2	+	8	2348	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	ZNRF3_ENST00000402174.1_Missense_Mutation_p.A625T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A625T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A625T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	725					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A625P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTAGCGCCGGAGCAGC	0.726																																						ENST00000544604.2																			1	Substitution - Missense(1)	p.A625P(1)	NS(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2173-2175)Gcc>Acc		zinc and ring finger 3							8.0	10.0	9.0					22																	29446342		1972	4125	6097	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446342G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2173G>A	22.37:g.29446342G>A	ENSP00000443824:p.Ala725Thr					ZNRF3_ENST00000402174.1_Missense_Mutation_p.A625T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A625T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A625T	p.A725T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2348	+			725					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.2173G>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	2.050	-0.417904	0.04766	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.08	-2.85	0.05734	.	1.417150	0.04393	N	0.362774	T	0.55955	0.1953	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.08055	0.003	T	0.38351	-0.9665	10	0.23891	T	0.37	5.6141	0.8343	0.01137	0.3083:0.2993:0.2402:0.1523	.	725	Q9ULT6	ZNRF3_HUMAN	T	725;625;432;625;625	ENSP00000443824:A725T;ENSP00000328614:A625T;ENSP00000384456:A625T;ENSP00000384553:A625T	ENSP00000328614:A625T	A	+	1	0	ZNRF3	27776342	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.136000	0.15974	-0.164000	0.10927	-0.152000	0.13540	GCC		0.726	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		4	16	0	0	0	1	0	4	16				
TGFBRAP1	9392	broad.mit.edu	37	2	105889457	105889457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105889457G>A	ENST00000393359.2	-	10	2253	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	TGFBRAP1_ENST00000258449.1_Silent_p.H609H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	609					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTAAGTGGGTGTGATACTCTT	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1825-1827)caC>caT		transforming growth factor, beta receptor associated protein 1							71.0	70.0	70.0					2																	105889457		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105889457G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1827C>T	2.37:g.105889457G>A						TGFBRAP1_ENST00000258449.1_Silent_p.H609H	p.H609H			Q8WUH2	TGFA1_HUMAN			10	2253	-			609					A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.1827C>T	CCDS2067.1																																																																																				0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		7	54	0	0	0	1	0	7	54				
BANP	54971	broad.mit.edu	37	16	88066718	88066718	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88066718C>T	ENST00000393207.1	+	9	1264	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BANP_ENST00000538234.1_Missense_Mutation_p.P356L|BANP_ENST00000286122.7_Missense_Mutation_p.P348L|BANP_ENST00000479780.2_Missense_Mutation_p.P317L|BANP_ENST00000355022.4_Missense_Mutation_p.P317L|BANP_ENST00000393208.2_Missense_Mutation_p.P317L|BANP_ENST00000355163.5_Missense_Mutation_p.P323L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	348	DNA-binding. {ECO:0000250}.|Necessary and sufficient for TP53 activation. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P317L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACAGAGCCGATGATGAGC	0.652																																						ENST00000393207.1																			1	Substitution - Missense(1)	p.P317L(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1042-1044)cCg>cTg		BTG3 associated nuclear protein																																				SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88066718C>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1043C>T	16.37:g.88066718C>T	ENSP00000376902:p.Pro348Leu					BANP_ENST00000479780.2_Missense_Mutation_p.P317L|BANP_ENST00000393208.2_Missense_Mutation_p.P317L|BANP_ENST00000286122.7_Missense_Mutation_p.P348L|BANP_ENST00000355163.5_Missense_Mutation_p.P323L|BANP_ENST00000355022.4_Missense_Mutation_p.P317L|BANP_ENST00000538234.1_Missense_Mutation_p.P356L	p.P348L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	9	1264	+			348			DNA-binding (By similarity).|Necessary and sufficient for TP53 activation (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.1043C>T	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	8.127	0.782177	0.16189	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	3.75	1.52	0.23074	.	0.536094	0.20729	N	0.086754	T	0.22085	0.0532	N	0.14661	0.345	0.31187	N	0.7014	B;B;B;B;B;B	0.26577	0.103;0.054;0.0;0.081;0.0;0.153	B;B;B;B;B;B	0.20767	0.011;0.014;0.0;0.014;0.0;0.031	T	0.17471	-1.0368	9	0.28530	T	0.3	.	9.594	0.39563	0.0:0.5132:0.4867:0.0	.	356;323;317;348;317;317	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	L	348;323;313;317;317;317;317;356;348	.	ENSP00000286122:P348L	P	+	2	0	BANP	86624219	0.997000	0.39634	0.997000	0.53966	0.169000	0.22640	1.442000	0.35046	0.883000	0.36040	0.305000	0.20034	CCG		0.652	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		3	14	0	0	0	1	0	3	14				
LAMC1	3915	broad.mit.edu	37	1	183096535	183096535	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183096535A>G	ENST00000258341.4	+	17	3376	c.3119A>G	c.(3118-3120)gAt>gGt	p.D1040G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1040	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTGGTAAAGGATAAGGTAAGC	0.443																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3118-3120)gAt>gGt		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92.0	78.0	83.0					1																	183096535		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183096535A>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3119A>G	1.37:g.183096535A>G	ENSP00000258341:p.Asp1040Gly					LAMC1_ENST00000466964.1_3'UTR	p.D1040G	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			17	3376	+			1040			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3119A>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.075007	0.36566	.	.	ENSG00000135862	ENST00000258341	T	0.35789	1.29	5.38	4.22	0.49857	.	0.144618	0.64402	D	0.000009	T	0.40694	0.1127	M	0.74258	2.255	0.58432	D	0.999992	B	0.17268	0.021	B	0.21151	0.033	T	0.33292	-0.9874	10	0.72032	D	0.01	.	12.2929	0.54829	0.858:0.142:0.0:0.0	.	1040	P11047	LAMC1_HUMAN	G	1040	ENSP00000258341:D1040G	ENSP00000258341:D1040G	D	+	2	0	LAMC1	181363158	1.000000	0.71417	0.996000	0.52242	0.460000	0.32559	6.730000	0.74780	0.845000	0.35118	0.454000	0.30748	GAT		0.443	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		23	21	0	0	0	1	0	23	21				
GMNN	51053	broad.mit.edu	37	6	24784318	24784318	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24784318A>T	ENST00000230056.3	+	5	610	c.278A>T	c.(277-279)aAt>aTt	p.N93I	GMNN_ENST00000356509.3_Missense_Mutation_p.N93I	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	93	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						attttaGAAAATCCATCCTCT	0.303																																						ENST00000230056.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						c.(277-279)aAt>aTt		geminin, DNA replication inhibitor							28.0	29.0	29.0					6																	24784318		2199	4294	6493	SO:0001583	missense	51053				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	g.chr6:24784318A>T	AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.278A>T	6.37:g.24784318A>T	ENSP00000230056:p.Asn93Ile					GMNN_ENST00000356509.3_Missense_Mutation_p.N93I	p.N93I	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN			5	610	+			93			Necessary and sufficient for interaction with IDAS.		B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	c.278A>T	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513913	0.64522	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000378059	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.67	3.15	0.36227	.	0.239204	0.48286	D	0.000199	T	0.11922	0.0290	M	0.66939	2.045	0.31332	N	0.684659	P	0.50369	0.934	P	0.48030	0.564	T	0.04294	-1.0962	10	0.62326	D	0.03	-33.4748	8.3431	0.32256	0.5535:0.3794:0.0671:0.0	.	93	O75496	GEMI_HUMAN	I	93	ENSP00000348902:N93I;ENSP00000230056:N93I;ENSP00000367293:N93I;ENSP00000367298:N93I	ENSP00000230056:N93I	N	+	2	0	GMNN	24892297	0.923000	0.31300	0.972000	0.41901	0.925000	0.55904	0.824000	0.27379	0.456000	0.26937	0.528000	0.53228	AAT		0.303	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		8	17	0	0	0	1	0	8	17				
ILF3	3609	broad.mit.edu	37	19	10794150	10794150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794150G>A	ENST00000590261.1	+	14	1783	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	ILF3_ENST00000592763.1_Missense_Mutation_p.A599T|ILF3_ENST00000420083.1_Missense_Mutation_p.A595T|ILF3_ENST00000407004.3_Missense_Mutation_p.A599T|ILF3_ENST00000589998.1_Missense_Mutation_p.A595T|ILF3_ENST00000318511.3_Missense_Mutation_p.A595T|ILF3_ENST00000588657.1_Missense_Mutation_p.A599T|ILF3_ENST00000250241.8_Missense_Mutation_p.A595T|ILF3_ENST00000449870.1_Missense_Mutation_p.A599T			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	595					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACCCCTCTCGCCCTTGATGC	0.552																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1795-1797)Gcc>Acc		interleukin enhancer binding factor 3, 90kDa							69.0	74.0	72.0					19																	10794150		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10794150G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1783G>A	19.37:g.10794150G>A	ENSP00000468156:p.Ala595Thr					ILF3_ENST00000589998.1_Missense_Mutation_p.A595T|ILF3_ENST00000588657.1_Missense_Mutation_p.A599T|ILF3_ENST00000250241.8_Missense_Mutation_p.A595T|ILF3_ENST00000318511.3_Missense_Mutation_p.A595T|ILF3_ENST00000592763.1_Missense_Mutation_p.A599T|ILF3_ENST00000420083.1_Missense_Mutation_p.A595T|ILF3_ENST00000590261.1_Missense_Mutation_p.A595T|ILF3_ENST00000407004.3_Missense_Mutation_p.A599T	p.A599T	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		15	2112	+			595					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1795G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248930	0.39797	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15718	2.41;2.4;2.43;2.44;2.43	5.75	1.05	0.20165	.	0.436525	0.24271	N	0.039991	T	0.05181	0.0138	N	0.08118	0	0.26061	N	0.981346	B;P;P;B;B;B	0.39352	0.048;0.669;0.539;0.043;0.145;0.048	B;B;B;B;B;B	0.21708	0.003;0.036;0.016;0.005;0.011;0.005	T	0.33624	-0.9861	10	0.45353	T	0.12	.	5.0208	0.14360	0.0707:0.1201:0.3172:0.492	.	599;599;595;599;595;595	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	T	595;599;595;595;599;595	ENSP00000404121:A599T;ENSP00000315205:A595T;ENSP00000405436:A595T;ENSP00000384660:A599T;ENSP00000250241:A595T	ENSP00000250241:A595T	A	+	1	0	ILF3	10655150	0.002000	0.14202	0.136000	0.22124	0.962000	0.63368	0.690000	0.25451	0.049000	0.15920	0.591000	0.81541	GCC		0.552	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			25	42	0	0	0	1	0	25	42				
IL20RB	53833	broad.mit.edu	37	3	136699435	136699435	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136699435G>T	ENST00000329582.4	+	2	464		c.e2+1		IL20RB_ENST00000309741.5_Splice_Site|IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta						homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATACCAGGGGTGAGTTTTTT	0.478																																						ENST00000329582.4																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		interleukin 20 receptor beta							139.0	137.0	138.0					3																	136699435		2203	4300	6503	SO:0001630	splice_region_variant	53833					integral to membrane	receptor activity	g.chr3:136699435G>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.215+1G>T	3.37:g.136699435G>T						IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Splice_Site		NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN			2	464	+								B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Splice_Site	SNP	ENST00000329582.4	37		CCDS3093.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260731	0.59431	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8602	0.70376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL20RB	138182125	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.594000	0.67557	2.581000	0.87130	0.585000	0.79938	.		0.478	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717	Intron	52	71	1	0	9.45407e-15	1	1.20887e-14	52	71				
GPR65	8477	broad.mit.edu	37	14	88477671	88477671	+	Silent	SNP	C	C	T	rs139775422	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88477671C>T	ENST00000267549.3	+	2	1038	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	160					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGAATATTGCGATGCCGAAA	0.398													C|||	4	0.000798722	0.0	0.0	5008	,	,		23794	0.003		0.0	False		,,,				2504	0.001					ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(478-480)tgC>tgT		G protein-coupled receptor 65		C		1,4405	2.1+/-5.4	0,1,2202	151.0	144.0	146.0		480	-4.5	0.0	14	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR65	NM_003608.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		160/338	88477671	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477671C>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.480C>T	14.37:g.88477671C>T						RP11-300J18.2_ENST00000554433.1_RNA	p.C160C	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	1038	+			160					O75819	Silent	SNP	ENST00000267549.3	37	c.480C>T	CCDS9879.1																																																																																				0.398	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			49	79	0	0	0	1	0	49	79				
ARAP3	64411	broad.mit.edu	37	5	141050955	141050955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141050955C>T	ENST00000239440.4	-	13	1932	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T	ARAP3_ENST00000513878.1_Missense_Mutation_p.A285T|ARAP3_ENST00000508305.1_Missense_Mutation_p.A545T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	623					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTGCCACAGCTGCACACAGT	0.587																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1867-1869)Gct>Act		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							75.0	66.0	69.0					5																	141050955		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141050955C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1867G>A	5.37:g.141050955C>T	ENSP00000239440:p.Ala623Thr					ARAP3_ENST00000508305.1_Missense_Mutation_p.A545T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A285T	p.A623T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			13	1932	-			623					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1867G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702033	0.88924	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.24723	1.84;2.62;2.62	3.55	3.55	0.40652	.	0.157487	0.41500	U	0.000864	T	0.48624	0.1510	M	0.65975	2.015	0.47511	D	0.99944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.996	T	0.55673	-0.8104	10	0.87932	D	0	.	14.9037	0.70699	0.0:1.0:0.0:0.0	.	285;545;623	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	T	545;623;285	ENSP00000421826:A545T;ENSP00000239440:A623T;ENSP00000421468:A285T	ENSP00000239440:A623T	A	-	1	0	ARAP3	141031139	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.544000	0.73878	1.814000	0.52955	0.563000	0.77884	GCT		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		17	27	0	0	0	1	0	17	27				
HLCS	3141	broad.mit.edu	37	21	38309235	38309235	+	Silent	SNP	G	G	A	rs185480832	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309235G>A	ENST00000399120.1	-	5	1740	c.510C>T	c.(508-510)tcC>tcT	p.S170S	HLCS_ENST00000336648.4_Silent_p.S170S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	170					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGGAGTCGGAGCCCACAT	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		19767	0.0		0.001	False		,,,				2504	0.001					ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(508-510)tcC>tcT		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						67.0	58.0	61.0					21																	38309235		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309235G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.510C>T	21.37:g.38309235G>A						HLCS_ENST00000336648.3_Silent_p.S170S	p.S170S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	1740	-		Myeloproliferative disorder(46;0.0422)	170					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.510C>T	CCDS13647.1																																																																																				0.577	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			18	24	0	0	0	1	0	18	24				
MATN4	8785	broad.mit.edu	37	20	43926866	43926866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926866G>A	ENST00000372754.1	-	7	1501	c.1493C>T	c.(1492-1494)aCg>aTg	p.T498M	MATN4_ENST00000537548.1_Missense_Mutation_p.T457M|MATN4_ENST00000353917.5_Missense_Mutation_p.T375M|MATN4_ENST00000372751.4_Missense_Mutation_p.T308M|MATN4_ENST00000372756.1_Missense_Mutation_p.T457M|MATN4_ENST00000360607.6_Missense_Mutation_p.T416M|MATN4_ENST00000342716.4_Missense_Mutation_p.T457M			O95460	MATN4_HUMAN	matrilin 4	498	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCGGCCATCCGTGAAGACCAG	0.667																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1369-1371)aCg>aTg		matrilin 4							66.0	57.0	60.0					20																	43926866		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43926866G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1493C>T	20.37:g.43926866G>A	ENSP00000361840:p.Thr498Met					MATN4_ENST00000372751.4_Missense_Mutation_p.T308M|MATN4_ENST00000342716.4_Missense_Mutation_p.T457M|MATN4_ENST00000372754.1_Missense_Mutation_p.T498M|MATN4_ENST00000353917.5_Missense_Mutation_p.T375M|MATN4_ENST00000372753.1_Missense_Mutation_p.T308M|MATN4_ENST00000360607.5_Missense_Mutation_p.T416M|MATN4_ENST00000372756.1_Missense_Mutation_p.T457M	p.T457M			O95460	MATN4_HUMAN			8	1614	-		Myeloproliferative disorder(115;0.0122)	498			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1370C>T		.	.	.	.	.	.	.	.	.	.	G	25.9	4.680756	0.88542	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.46	5.46	0.80206	.	0.000000	0.45361	D	0.000364	D	0.97015	0.9025	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.984;1.0	D	0.98543	1.0633	10	0.87932	D	0	.	18.3439	0.90314	0.0:0.0:1.0:0.0	.	375;416;457	A6NNA4;O95460-4;O95460-2	.;.;.	M	308;498;457;375;416;457;457;498;308	ENSP00000361839:T308M;ENSP00000361840:T498M;ENSP00000361842:T457M;ENSP00000243983:T375M;ENSP00000353819:T416M;ENSP00000343164:T457M;ENSP00000440328:T457M;ENSP00000361837:T308M	ENSP00000255132:T498M	T	-	2	0	MATN4	43360280	1.000000	0.71417	0.943000	0.38184	0.930000	0.56654	9.790000	0.99075	2.559000	0.86315	0.644000	0.83932	ACG		0.667	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			18	28	0	0	0	1	0	18	28				
XPNPEP1	7511	broad.mit.edu	37	10	111629770	111629770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111629770C>A	ENST00000502935.1	-	19	1833	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D548Y|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D458Y|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.D529Y					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.D529Y(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGCCCCATCTTCATAGTAC	0.403																																						ENST00000502935.1																			1	Substitution - Missense(1)	p.D529Y(1)	large_intestine(1)	endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1714-1716)Gat>Tat		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							66.0	62.0	63.0					10																	111629770		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111629770C>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1714G>T	10.37:g.111629770C>A	ENSP00000421566:p.Asp572Tyr					XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D548Y|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.D529Y|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D458Y	p.D572Y			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	19	1833	-		Breast(234;0.174)	529						Missense_Mutation	SNP	ENST00000502935.1	37	c.1714G>T	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910743	0.92107	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.97	5.97	0.96955	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92126	0.5708	10	0.87932	D	0	-19.6738	18.6193	0.91316	0.0:1.0:0.0:0.0	.	572;529	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	Y	572;458;548;529	ENSP00000421566:D572Y;ENSP00000358697:D458Y;ENSP00000324011:D548Y;ENSP00000358694:D529Y	ENSP00000324011:D548Y	D	-	1	0	XPNPEP1	111619760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.274000	0.78538	2.836000	0.97738	0.655000	0.94253	GAT		0.403	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			10	23	1	0	7.03913e-09	1	8.47891e-09	10	23				
E4F1	1877	broad.mit.edu	37	16	2285119	2285119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2285119A>G	ENST00000301727.4	+	13	2021	c.1973A>G	c.(1972-1974)gAg>gGg	p.E658G	E4F1_ENST00000564139.1_Missense_Mutation_p.R641G|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000565090.1_Missense_Mutation_p.E481G|DNASE1L2_ENST00000382437.4_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	658					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GAGGCCACGGAGATCATCGAG	0.701																																						ENST00000301727.4																			0				ovary(1)	1						c.(1972-1974)gAg>gGg		E4F transcription factor 1							32.0	33.0	33.0					16																	2285119		2195	4297	6492	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2285119A>G	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1973A>G	16.37:g.2285119A>G	ENSP00000301727:p.Glu658Gly					E4F1_ENST00000565090.1_Missense_Mutation_p.E481G|E4F1_ENST00000564139.1_Missense_Mutation_p.R641G	p.E658G	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			13	2021	+			658					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.1973A>G	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248300	0.39697	.	.	ENSG00000167967	ENST00000301727	T	0.38560	1.13	5.16	5.16	0.70880	.	0.101886	0.64402	D	0.000002	T	0.48660	0.1512	L	0.27053	0.805	0.27848	N	0.940862	D	0.76494	0.999	D	0.64144	0.922	T	0.45891	-0.9230	10	0.54805	T	0.06	-31.0138	13.8262	0.63352	1.0:0.0:0.0:0.0	.	658	Q66K89	E4F1_HUMAN	G	658	ENSP00000301727:E658G	ENSP00000301727:E658G	E	+	2	0	E4F1	2225120	1.000000	0.71417	0.991000	0.47740	0.853000	0.48598	4.544000	0.60691	1.960000	0.56953	0.459000	0.35465	GAG		0.701	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		7	42	0	0	0	1	0	7	42				
CHST3	9469	broad.mit.edu	37	10	73767214	73767214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767214G>A	ENST00000373115.4	+	3	862	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCCACCACGCGCACCGGCTCC	0.667																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(424-426)cGc>cAc		carbohydrate (chondroitin 6) sulfotransferase 3							20.0	19.0	19.0					10																	73767214		2203	4298	6501	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767214G>A	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.425G>A	10.37:g.73767214G>A	ENSP00000362207:p.Arg142His						p.R142H	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	862	+			142					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.425G>A	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162545	0.94727	.	.	ENSG00000122863	ENST00000373115	D	0.87966	-2.32	5.68	5.68	0.88126	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95919	0.8929	10	0.87932	D	0	-28.807	18.7833	0.91944	0.0:0.0:1.0:0.0	.	142	Q7LGC8	CHST3_HUMAN	H	142	ENSP00000362207:R142H	ENSP00000362207:R142H	R	+	2	0	CHST3	73437220	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.753000	0.98904	2.698000	0.92095	0.561000	0.74099	CGC		0.667	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		6	10	0	0	0	1	0	6	10				
GOPC	57120	broad.mit.edu	37	6	117892043	117892043	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117892043C>A	ENST00000368498.2	-	6	967	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000535237.1_Missense_Mutation_p.G298C|GOPC_ENST00000052569.6_Missense_Mutation_p.G290C	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	298	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		ATGCCAAGGCCTTCATGATCT	0.378			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(892-894)Ggc>Tgc		golgi-associated PDZ and coiled-coil motif containing							129.0	125.0	126.0					6																	117892043		2203	4298	6501	SO:0001583	missense	57120							g.chr6:117892043C>A	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.892G>T	6.37:g.117892043C>A	ENSP00000357484:p.Gly298Cys					GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G298C|GOPC_ENST00000052569.6_Missense_Mutation_p.G290C	p.G298C						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	6	1121	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.892G>T	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633315	0.87660	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.59364	0.27;0.27;0.27	5.55	5.55	0.83447	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.81206	0.4774	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85738	0.1335	10	0.87932	D	0	0.0851	19.5059	0.95116	0.0:1.0:0.0:0.0	.	290;298;298	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	C	290;298;298	ENSP00000052569:G290C;ENSP00000357484:G298C;ENSP00000445690:G298C	ENSP00000052569:G290C	G	-	1	0	GOPC	117998736	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.163000	0.77524	2.622000	0.88805	0.557000	0.71058	GGC		0.378	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		4	50	1	0	1	1	1	4	50				
BCAR3	8412	broad.mit.edu	37	1	94057826	94057826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94057826C>T	ENST00000370244.1	-	6	770	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000412628.1_RNA|RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.R70Q|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.R161Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.R161Q|RP5-1033H22.2_ENST00000446684.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	161	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTACCTGTCGGGGGATGCG	0.627																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(481-483)cGa>cAa		breast cancer anti-estrogen resistance 3							71.0	64.0	66.0					1																	94057826		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94057826C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.482G>A	1.37:g.94057826C>T	ENSP00000359264:p.Arg161Gln					BCAR3_ENST00000370247.3_Missense_Mutation_p.R70Q|RP5-1033H22.2_ENST00000427243.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.R161Q|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000370243.1_Missense_Mutation_p.R161Q	p.R161Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	6	770	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	161			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.482G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	36	5.921390	0.97105	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.61	5.61	0.85477	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97999	1.0359	10	0.62326	D	0.03	3.2862	19.6434	0.95767	0.0:1.0:0.0:0.0	.	161;70	O75815;Q5TEW3	BCAR3_HUMAN;.	Q	70;161;161;161	ENSP00000359267:R70Q;ENSP00000260502:R161Q;ENSP00000359264:R161Q;ENSP00000359263:R161Q	ENSP00000260502:R161Q	R	-	2	0	BCAR3	93830414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.377000	0.79668	2.647000	0.89833	0.563000	0.77884	CGA		0.627	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			16	30	0	0	0	1	0	16	30				
ANKRD20A11P	391267	broad.mit.edu	37	21	15326399	15326399	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15326399C>T	ENST00000344693.5	-	0	808					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TCTCCTTTTCCATTGACTATT	0.448																																						ENST00000344693.5																			0																																																			0							g.chr21:15326399C>T			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15326399C>T								NR_027270.1						0	808	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.448	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			30	50	0	0	0	1	0	30	50				
KRT33B	3884	broad.mit.edu	37	17	39522799	39522799	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39522799G>A	ENST00000251646.3	-	3	560	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	171	Coil 1B.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GACCTGCACAGGGTCAGCTCA	0.602																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(511-513)Ctg>Ttg		keratin 33B							70.0	70.0	70.0					17																	39522799		2192	4300	6492	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39522799G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.511C>T	17.37:g.39522799G>A							p.L171L	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			3	560	-		Breast(137;0.000496)	171			Coil 1B.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.511C>T	CCDS11389.1																																																																																				0.602	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		22	36	0	0	0	1	0	22	36				
TCF4	6925	broad.mit.edu	37	18	52896162	52896162	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52896162G>T	ENST00000356073.4	-	18	2394	c.1783C>A	c.(1783-1785)Ctc>Atc	p.L595I	TCF4_ENST00000457482.3_Missense_Mutation_p.L439I|TCF4_ENST00000564403.2_Missense_Mutation_p.L605I|TCF4_ENST00000566286.1_Missense_Mutation_p.L592I|TCF4_ENST00000561992.1_Missense_Mutation_p.L465I|TCF4_ENST00000543082.1_Missense_Mutation_p.L553I|TCF4_ENST00000565018.2_Missense_Mutation_p.L599I|TCF4_ENST00000354452.3_Missense_Mutation_p.L599I|TCF4_ENST00000544241.2_Missense_Mutation_p.L528I|TCF4_ENST00000568673.1_Missense_Mutation_p.L575I|TCF4_ENST00000398339.1_Missense_Mutation_p.L701I|TCF4_ENST00000564228.1_Missense_Mutation_p.L524I|TCF4_ENST00000540999.1_Missense_Mutation_p.L571I|TCF4_ENST00000570287.2_Missense_Mutation_p.L435I|TCF4_ENST00000568740.1_Missense_Mutation_p.L570I|TCF4_ENST00000570177.2_Missense_Mutation_p.L465I|TCF4_ENST00000537578.1_Missense_Mutation_p.L575I|TCF4_ENST00000537856.3_Missense_Mutation_p.L465I|TCF4_ENST00000564999.1_Missense_Mutation_p.L595I|TCF4_ENST00000561831.3_Missense_Mutation_p.L435I|TCF4_ENST00000566279.1_Missense_Mutation_p.L539I|TCF4_ENST00000567880.1_Missense_Mutation_p.L535I	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	595	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCACTCTTGAGGTGGAGCTGC	0.617																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1795-1797)Ctc>Atc		transcription factor 4							113.0	97.0	103.0					18																	52896162		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52896162G>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1783C>A	18.37:g.52896162G>T	ENSP00000348374:p.Leu595Ile					TCF4_ENST00000540999.1_Missense_Mutation_p.L571I|TCF4_ENST00000356073.4_Missense_Mutation_p.L595I|TCF4_ENST00000561992.1_Missense_Mutation_p.L465I|TCF4_ENST00000543082.1_Missense_Mutation_p.L553I|TCF4_ENST00000570287.2_Missense_Mutation_p.L435I|TCF4_ENST00000564999.1_Missense_Mutation_p.L595I|TCF4_ENST00000570177.2_Missense_Mutation_p.L465I|TCF4_ENST00000568673.1_Missense_Mutation_p.L575I|TCF4_ENST00000568740.1_Missense_Mutation_p.L570I|TCF4_ENST00000564403.2_Missense_Mutation_p.L605I|TCF4_ENST00000565018.2_Missense_Mutation_p.L599I|TCF4_ENST00000564228.1_Missense_Mutation_p.L524I|TCF4_ENST00000561831.3_Missense_Mutation_p.L435I|TCF4_ENST00000566279.1_Missense_Mutation_p.L539I|TCF4_ENST00000537856.3_Missense_Mutation_p.L465I|TCF4_ENST00000537578.1_Missense_Mutation_p.L575I|TCF4_ENST00000457482.3_Missense_Mutation_p.L439I|TCF4_ENST00000567880.1_Missense_Mutation_p.L535I|TCF4_ENST00000398339.1_Missense_Mutation_p.L701I|TCF4_ENST00000566286.1_Missense_Mutation_p.L592I|TCF4_ENST00000544241.2_Missense_Mutation_p.L528I	p.L599I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2406	-			595			Helix-loop-helix motif.		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1795C>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429688	0.96131	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76	5.79	5.79	0.91817	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.987;0.996;0.979;0.989;1.0;0.974;0.997	D;D;D;D;D;D;D;D;D	0.79108	0.991;0.992;0.915;0.984;0.973;0.949;0.991;0.953;0.98	D	0.99858	1.1080	10	0.87932	D	0	-8.337	18.7922	0.91978	0.0:0.0:1.0:0.0	.	575;599;435;701;595;553;528;439;592	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	I	599;439;595;553;571;575;528;465;701	ENSP00000346440:L599I;ENSP00000409447:L439I;ENSP00000348374:L595I;ENSP00000439656:L553I;ENSP00000445202:L571I;ENSP00000440731:L575I;ENSP00000441562:L528I;ENSP00000439827:L465I;ENSP00000381382:L701I	ENSP00000346440:L599I	L	-	1	0	TCF4	51047160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.739000	0.93911	0.563000	0.77884	CTC		0.617	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		5	67	1	0	0.217242	1	0.218821	5	67				
MCM8	84515	broad.mit.edu	37	20	5974203	5974203	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5974203C>A	ENST00000378896.3	+	18	2669	c.2292C>A	c.(2290-2292)tcC>tcA	p.S764S	MCM8_ENST00000378883.1_Silent_p.S717S|MCM8_ENST00000265187.4_Silent_p.S748S|MCM8_ENST00000378886.2_Silent_p.S804S	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	764					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTGAGCGATCCCAGCATGGTT	0.363																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2290-2292)tcC>tcA		minichromosome maintenance complex component 8							75.0	80.0	79.0					20																	5974203		2203	4300	6503	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5974203C>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2292C>A	20.37:g.5974203C>A						MCM8_ENST00000265187.4_Silent_p.S748S|MCM8_ENST00000378886.2_Silent_p.S804S|MCM8_ENST00000378883.1_Silent_p.S717S	p.S764S	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			18	2669	+			764					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.2292C>A	CCDS13094.1																																																																																				0.363	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		8	72	1	0	0.000442599	1	0.00048047	8	72				
LRRC27	80313	broad.mit.edu	37	10	134165236	134165236	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134165236C>A	ENST00000368614.3	+	7	1157	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000432555.2_Missense_Mutation_p.A224D|LRRC27_ENST00000368612.1_Missense_Mutation_p.A289D|LRRC27_ENST00000368613.4_Missense_Mutation_p.A351D|LRRC27_ENST00000344079.5_Missense_Mutation_p.L383I|LRRC27_ENST00000368610.3_Missense_Mutation_p.A289D|LRRC27_ENST00000368615.3_Missense_Mutation_p.A351D|LRRC27_ENST00000392638.2_Missense_Mutation_p.L383I	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	351										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAGAAGCAGGCTCTGATGGAG	0.612																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1147-1149)Ctc>Atc		leucine rich repeat containing 27							41.0	47.0	45.0					10																	134165236		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134165236C>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1052C>A	10.37:g.134165236C>A	ENSP00000357603:p.Ala351Asp					LRRC27_ENST00000368610.3_Missense_Mutation_p.A289D|LRRC27_ENST00000368613.4_Missense_Mutation_p.A351D|LRRC27_ENST00000344079.5_Missense_Mutation_p.L383I|LRRC27_ENST00000368615.3_Missense_Mutation_p.A351D|LRRC27_ENST00000432555.2_Missense_Mutation_p.A224D|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.A289D|LRRC27_ENST00000368614.3_Missense_Mutation_p.A351D	p.L383I			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1342	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1147C>A	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.544|8.544	0.873922|0.873922	0.17395|0.17395	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000392638;ENST00000344079	T;T;T;T;T;T|T;T	0.50813|0.19105	2.04;1.95;1.95;3.63;3.63;0.73|2.17;2.17	4.35|4.35	-1.1|-1.1	0.09872|0.09872	.|.	0.978098|.	0.08288|.	N|.	0.968894|.	T|T	0.13841|0.13841	0.0335|0.0335	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;P;P;P|B	0.55385|0.32160	0.971;0.904;0.944;0.745|0.358	P;P;P;B|B	0.52957|0.29785	0.714;0.63;0.628;0.282|0.107	T|T	0.22208|0.22208	-1.0223|-1.0223	9|8	0.52906|0.87932	T|D	0.07|0	-0.1699|-0.1699	4.7779|4.7779	0.13189|0.13189	0.0:0.4342:0.2934:0.2724|0.0:0.4342:0.2934:0.2724	.|.	351;224;289;351|383	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9|Q9C0I9-3	.;.;.;LRC27_HUMAN|.	D|I	351;351;351;289;289;224|383	ENSP00000357604:A351D;ENSP00000357603:A351D;ENSP00000357602:A351D;ENSP00000357601:A289D;ENSP00000357599:A289D;ENSP00000407949:A224D|ENSP00000376413:L383I;ENSP00000342641:L383I	ENSP00000357599:A289D|ENSP00000342641:L383I	A|L	+|+	2|1	0|0	LRRC27|LRRC27	134015226|134015226	0.012000|0.012000	0.17670|0.17670	0.001000|0.001000	0.08648|0.08648	0.020000|0.020000	0.10135|0.10135	-0.160000|-0.160000	0.10041|0.10041	-0.319000|-0.319000	0.08652|0.08652	-0.264000|-0.264000	0.10439|0.10439	GCT|CTC		0.612	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		5	56	1	0	0.000602214	1	0.000649039	5	56				
SEC14L1	6397	broad.mit.edu	37	17	75196713	75196713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75196713C>A	ENST00000413679.2	+	9	1270	c.967C>A	c.(967-969)Ctt>Att	p.L323I	SEC14L1_ENST00000585618.1_Missense_Mutation_p.L323I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L323I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L289I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L289I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.L323I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	323	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCCTCAGGTCCTTCAGGATTA	0.468																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(967-969)Ctt>Att		SEC14-like 1 (S. cerevisiae)							120.0	113.0	116.0					17																	75196713		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75196713C>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.967C>A	17.37:g.75196713C>A	ENSP00000394716:p.Leu323Ile					SEC14L1_ENST00000430767.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L323I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L289I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.L323I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L289I	p.L323I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			9	1270	+			323			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.967C>A	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536997	0.65085	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.12	5.12	0.69794	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	L	0.31526	0.94	0.54753	D	0.999987	B;P	0.36354	0.314;0.549	B;B	0.42138	0.202;0.377	T	0.62105	-0.6924	10	0.24483	T	0.36	-31.8454	11.4051	0.49894	0.0:0.9172:0.0:0.0828	.	323;323	Q92503-2;Q92503	.;S14L1_HUMAN	I	323;323;323;323;323;289	ENSP00000376268:L323I;ENSP00000406030:L323I;ENSP00000390392:L323I;ENSP00000408169:L323I;ENSP00000394716:L323I;ENSP00000389838:L289I	ENSP00000376268:L323I	L	+	1	0	SEC14L1	72708308	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.779000	0.55379	2.527000	0.85204	0.655000	0.94253	CTT		0.468	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		7	103	1	0	0.00448238	1	0.00472561	7	103				
IGFN1	91156	broad.mit.edu	37	1	201183408	201183408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201183408C>A	ENST00000335211.4	+	13	8962	c.8832C>A	c.(8830-8832)acC>acA	p.T2944T	IGFN1_ENST00000295591.8_Silent_p.T104T|IGFN1_ENST00000451870.2_Silent_p.T487T	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	487						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GACCTGGCACCTGGTTTAAGG	0.612																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8830-8832)acC>acA		immunoglobulin-like and fibronectin type III domain containing 1							69.0	54.0	59.0					1																	201183408		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201183408C>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8832C>A	1.37:g.201183408C>A						IGFN1_ENST00000451870.2_Silent_p.T487T|IGFN1_ENST00000295591.8_Silent_p.T104T	p.T2944T	NM_001164586.1	NP_001158058.1					13	8962	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.8832C>A	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200759	0.38905	.	.	ENSG00000163395	ENST00000412892	.	.	.	3.52	1.58	0.23477	.	.	.	.	.	T	0.54240	0.1846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42682	-0.9437	4	.	.	.	.	6.8557	0.24040	0.0:0.7247:0.1761:0.0991	.	.	.	.	M	362	.	.	L	+	1	2	IGFN1	199450031	0.631000	0.27164	0.661000	0.29709	0.833000	0.47200	0.270000	0.18607	0.181000	0.19994	0.462000	0.41574	CTG		0.612	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		5	48	1	0	0.00198382	1	0.00210581	5	48				
ZC3H8	84524	broad.mit.edu	37	2	112995893	112995893	+	Splice_Site	SNP	C	C	A	rs112280995	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112995893C>A	ENST00000409573.2	-	3	498	c.369G>T	c.(367-369)caG>caT	p.Q123H	ZC3H8_ENST00000272570.5_Splice_Site_p.Q123H			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	123					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GACTCTTACCCTGTGGGGTAT	0.373																																						ENST00000409573.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						c.e3+1		zinc finger CCCH-type containing 8							103.0	98.0	99.0					2																	112995893		1829	4082	5911	SO:0001630	splice_region_variant	84524				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:112995893C>A	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.370+1G>T	2.37:g.112995893C>A						ZC3H8_ENST00000272570.5_Splice_Site_p.Q123_splice	p.Q123_splice			Q8N5P1	ZC3H8_HUMAN			3	498	-			123					Q9BZ75	Splice_Site	SNP	ENST00000409573.2	37	c.370_splice	CCDS46392.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303262	0.40795	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.19669	2.13;2.13	4.87	-5.39	0.02664	.	4.163590	0.00589	N	0.000349	T	0.17577	0.0422	L	0.46157	1.445	0.20764	N	0.999853	B	0.02656	0.0	B	0.04013	0.001	T	0.28996	-1.0026	10	0.56958	D	0.05	-0.2735	4.7127	0.12880	0.2122:0.2259:0.0:0.5619	.	123	Q8N5P1	ZC3H8_HUMAN	H	123	ENSP00000386488:Q123H;ENSP00000272570:Q123H	ENSP00000272570:Q123H	Q	-	3	2	ZC3H8	112712364	0.737000	0.28175	0.006000	0.13384	0.187000	0.23431	0.320000	0.19540	-1.080000	0.03109	-0.266000	0.10368	CAG		0.373	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494	Missense_Mutation	8	101	1	0	0.000274275	1	0.000298791	8	101				
TMEM143	55260	broad.mit.edu	37	19	48848500	48848500	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48848500G>A	ENST00000293261.3	-	4	797	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	TMEM143_ENST00000435956.3_Silent_p.L126L|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000541566.1_Silent_p.L51L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	161					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCTGGGCCAGCAGGGGCTCC	0.632																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(481-483)Ctg>Ttg		transmembrane protein 143							106.0	104.0	104.0					19																	48848500		2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48848500G>A	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.481C>T	19.37:g.48848500G>A						TMEM143_ENST00000435956.3_Silent_p.L126L|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000541566.1_Silent_p.L51L	p.L161L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	4	797	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	161					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.481C>T	CCDS12716.1																																																																																				0.632	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		46	65	0	0	0	1	0	46	65				
CSNK1E	1454	broad.mit.edu	37	22	38690147	38690147	+	Missense_Mutation	SNP	G	G	A	rs534849036		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38690147G>A	ENST00000396832.1	-	9	1446	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R396W|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R396W|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R396W	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	396					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACCTCTTGCCGCCCAGTGAGG	0.652																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1186-1188)Cgg>Tgg		casein kinase 1, epsilon							31.0	32.0	32.0					22																	38690147		2202	4300	6502	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38690147G>A		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.1186C>T	22.37:g.38690147G>A	ENSP00000380044:p.Arg396Trp					CSNK1E_ENST00000359867.3_Missense_Mutation_p.R396W|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R396W|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R396W	p.R396W	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			9	1446	-	Melanoma(58;0.045)		396						Missense_Mutation	SNP	ENST00000396832.1	37	c.1186C>T	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.708578|3.708578	0.68615|0.68615	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000431632|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904	.|T;T;T;T	.|0.56444	.|0.46;0.46;0.46;0.46	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.117854	.|0.56097	.|D	.|0.000021	T|T	0.58694|0.58694	0.2140|0.2140	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.70935	.|0.971	T|T	0.62358|0.62358	-0.6871|-0.6871	5|10	.|0.87932	.|D	.|0	.|.	13.8929|13.8929	0.63750|0.63750	0.0:0.0:0.7325:0.2674|0.0:0.0:0.7325:0.2674	.|.	.|396	.|P49674	.|KC1E_HUMAN	V|W	123|396	.|ENSP00000352929:R396W;ENSP00000380044:R396W;ENSP00000383067:R396W;ENSP00000384074:R396W	.|ENSP00000352929:R396W	A|R	-|-	2|1	0|2	CSNK1E|CSNK1E	37020093|37020093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.561000|0.561000	0.35649|0.35649	6.264000|6.264000	0.72527|0.72527	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.652	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		6	10	0	0	0	1	0	6	10				
TLK2	11011	broad.mit.edu	37	17	60678165	60678165	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60678165C>A	ENST00000326270.9	+	19	2038	c.1770C>A	c.(1768-1770)caC>caA	p.H590Q	TLK2_ENST00000346027.5_Missense_Mutation_p.H568Q|TLK2_ENST00000582809.1_Missense_Mutation_p.H419Q|TLK2_ENST00000343388.7_Missense_Mutation_p.H536Q|TLK2_ENST00000542523.1_Missense_Mutation_p.H536Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCATCATACACTATGACCTCA	0.343																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1255-1257)caC>caA		tousled-like kinase 2							74.0	71.0	72.0					17																	60678165		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60678165C>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1770C>A	17.37:g.60678165C>A	ENSP00000316512:p.His590Gln					TLK2_ENST00000343388.7_Missense_Mutation_p.H536Q|TLK2_ENST00000542523.1_Missense_Mutation_p.H536Q|TLK2_ENST00000346027.5_Missense_Mutation_p.H568Q|TLK2_ENST00000326270.9_Missense_Mutation_p.H590Q	p.H419Q			Q86UE8	TLK2_HUMAN			19	1960	+			590					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1257C>A		.	.	.	.	.	.	.	.	.	.	C	11.99	1.804252	0.31869	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	H	0.96777	3.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.998;0.998;0.999	D	0.87070	0.2159	10	0.87932	D	0	.	9.6188	0.39708	0.0:0.7837:0.1423:0.074	.	590;536;568;568	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	568;536;590;536	ENSP00000275780:H568Q;ENSP00000340800:H536Q;ENSP00000316512:H590Q;ENSP00000442311:H536Q	ENSP00000316512:H590Q	H	+	3	2	TLK2	58031897	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.721000	0.61951	2.753000	0.94483	0.467000	0.42956	CAC		0.343	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		6	60	1	0	3.59834e-05	1	4.01776e-05	6	60				
TLR7	51284	broad.mit.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12904193G>A	ENST00000380659.3	+	3	705	c.566G>A	c.(565-567)tGt>tAt	p.C189Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(565-567)tGt>tAt		toll-like receptor 7	Imiquimod(DB00724)						49.0	48.0	48.0					X																	12904193		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904193G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.566G>A	X.37:g.12904193G>A	ENSP00000370034:p.Cys189Tyr						p.C189Y	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	705	+			189					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.566G>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985785	0.74589	.	.	ENSG00000196664	ENST00000380659	T	0.35789	1.29	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76767	-0.2838	10	0.87932	D	0	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	189	Q9NYK1	TLR7_HUMAN	Y	189	ENSP00000370034:C189Y	ENSP00000370034:C189Y	C	+	2	0	TLR7	12814114	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	9.799000	0.99117	2.252000	0.74401	0.589000	0.80489	TGT		0.383	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		7	58	0	0	0	1	0	7	58				
HEXDC	284004	broad.mit.edu	37	17	80393711	80393711	+	Silent	SNP	C	C	T	rs200593934		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80393711C>T	ENST00000327949.9	+	5	605	c.594C>T	c.(592-594)gaC>gaT	p.D198D	HEXDC_ENST00000577944.1_Silent_p.D198D|HEXDC_ENST00000337014.6_Silent_p.D198D			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	198					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGGTGTGGGACGACATGCTCC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15538	0.0		0.0	False		,,,				2504	0.0					ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(592-594)gaC>gaT		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing		C		3,4117		0,3,2057	49.0	58.0	55.0		594	-7.8	0.8	17		55	0,8312		0,0,4156	no	coding-synonymous	HEXDC	NM_173620.2		0,3,6213	TT,TC,CC		0.0,0.0728,0.0241		198/586	80393711	3,12429	2060	4156	6216	SO:0001819	synonymous_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80393711C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.594C>T	17.37:g.80393711C>T						HEXDC_ENST00000577944.1_Silent_p.D198D|HEXDC_ENST00000327949.9_Silent_p.D198D	p.D198D	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		6	1068	+	Breast(20;0.00106)|all_neural(118;0.0804)		198					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.594C>T																																																																																					0.672	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		4	69	0	0	0	1	0	4	69				
RIMKLB	57494	broad.mit.edu	37	12	8866595	8866595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8866595G>A	ENST00000538135.1	+	2	958	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.V45M|RIMKLB_ENST00000357529.3_Missense_Mutation_p.V45M			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	45					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAGGGCTGTGGTGATGGATGA	0.428																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(133-135)Gtg>Atg		ribosomal modification protein rimK-like family member B							123.0	131.0	128.0					12																	8866595		2024	4162	6186	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8866595G>A	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.133G>A	12.37:g.8866595G>A	ENSP00000440943:p.Val45Met					RIMKLB_ENST00000535829.1_Missense_Mutation_p.V45M|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Missense_Mutation_p.V45M	p.V45M	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			3	1395	+			45					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.133G>A	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520432	0.44866	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.64	4.76	0.60689	.	0.211314	0.31156	U	0.008160	T	0.17534	0.0421	N	0.08118	0	0.29046	N	0.884808	B;B	0.31174	0.311;0.128	B;B	0.26969	0.075;0.021	T	0.09357	-1.0678	9	0.41790	T	0.15	.	8.5439	0.33410	0.0809:0.249:0.6701:0.0	.	45;45	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	M	45;45;106;45;45;45	.	ENSP00000350136:V45M	V	+	1	0	RIMKLB	8757862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.207000	0.32333	1.390000	0.46547	0.650000	0.86243	GTG		0.428	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		18	17	0	0	0	1	0	18	17				
ALDH1L2	160428	broad.mit.edu	37	12	105431891	105431891	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105431891G>T	ENST00000258494.9	-	18	2275	c.2135C>A	c.(2134-2136)gCt>gAt	p.A712D	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	712	Aldehyde dehydrogenase.			A -> T (in Ref. 1; AAI03935). {ECO:0000305}.	10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CATTCGCACAGCCTTGTCAAG	0.463																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(2134-2136)gCt>gAt		aldehyde dehydrogenase 1 family, member L2							93.0	85.0	88.0					12																	105431891		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105431891G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2135C>A	12.37:g.105431891G>T	ENSP00000258494:p.Ala712Asp					C12orf45_ENST00000548583.1_Intron	p.A712D	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			18	2275	-			712	A -> T (in Ref. 1; AAI03935).		Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2135C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182392	0.94885	.	.	ENSG00000136010	ENST00000258494	D	0.82619	-1.63	5.47	5.47	0.80525	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96966	0.9705	10	0.87932	D	0	.	19.3518	0.94392	0.0:0.0:1.0:0.0	.	712	Q3SY69	AL1L2_HUMAN	D	712	ENSP00000258494:A712D	ENSP00000258494:A712D	A	-	2	0	ALDH1L2	103956021	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	9.772000	0.98984	2.571000	0.86741	0.650000	0.86243	GCT		0.463	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		11	30	1	0	2.61681e-11	1	3.25769e-11	11	30				
DYNC2H1	79659	broad.mit.edu	37	11	103041675	103041675	+	Missense_Mutation	SNP	G	G	A	rs370669724		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103041675G>A	ENST00000375735.2	+	34	5356	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1738S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1738	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGGGCCTGGGGTTGTTTTGA	0.353																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(5212-5214)Ggt>Agt		dynein, cytoplasmic 2, heavy chain 1		G	SER/GLY,SER/GLY	0,3678		0,0,1839	185.0	173.0	177.0		5212,5212	4.9	1.0	11		177	1,8187		0,1,4093	no	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	56,56	0,1,5932	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	1738/4315,1738/4308	103041675	1,11865	1839	4094	5933	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103041675G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5212G>A	11.37:g.103041675G>A	ENSP00000364887:p.Gly1738Ser					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1738S	p.G1738S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	34	5356	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1738			AAA 1 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.5212G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188150	0.94923	0.0	1.22E-4	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.39406	1.08;1.08	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	0.000000	0.33753	U	0.004593	T	0.67896	0.2942	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72253	-0.4347	10	0.59425	D	0.04	.	18.4867	0.90831	0.0:0.0:1.0:0.0	.	1738;1738	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	1738	ENSP00000364887:G1738S;ENSP00000381167:G1738S	ENSP00000364887:G1738S	G	+	1	0	DYNC2H1	102546885	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.809000	0.99208	2.432000	0.82394	0.650000	0.86243	GGT		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		16	16	0	0	0	1	0	16	16				
RBBP8	5932	broad.mit.edu	37	18	20576405	20576405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20576405G>A	ENST00000399722.2	+	13	2359	c.2008G>A	c.(2008-2010)Gtt>Att	p.V670I	RBBP8_ENST00000399725.2_Missense_Mutation_p.V670I|RBBP8_ENST00000360790.5_Missense_Mutation_p.V670I|RBBP8_ENST00000327155.5_Missense_Mutation_p.V670I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	670					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TAAAATGGATGTTACTGTAAT	0.353								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(2008-2010)Gtt>Att	Homologous recombination	retinoblastoma binding protein 8							69.0	72.0	71.0					18																	20576405		2202	4298	6500	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20576405G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2008G>A	18.37:g.20576405G>A	ENSP00000382628:p.Val670Ile					RBBP8_ENST00000360790.5_Missense_Mutation_p.V670I|RBBP8_ENST00000399725.2_Missense_Mutation_p.V670I|RBBP8_ENST00000327155.5_Missense_Mutation_p.V670I	p.V670I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		13	2359	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		670					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.2008G>A	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656257	0.29425	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T	0.30714	1.52;1.53;1.52;1.52	5.92	-1.76	0.08006	.	0.620090	0.16082	N	0.230476	T	0.16257	0.0391	N	0.12746	0.255	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.005	T	0.07366	-1.0776	10	0.35671	T	0.21	-0.2324	12.7867	0.57510	0.4117:0.0:0.5883:0.0	.	670;670;670	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	I	670	ENSP00000323050:V670I;ENSP00000382630:V670I;ENSP00000382628:V670I;ENSP00000354024:V670I	ENSP00000323050:V670I	V	+	1	0	RBBP8	18830403	0.973000	0.33851	0.982000	0.44146	0.991000	0.79684	0.131000	0.15870	-0.293000	0.08986	-0.302000	0.09304	GTT		0.353	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		5	45	0	0	0	1	0	5	45				
SBSN	374897	broad.mit.edu	37	19	36017820	36017820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36017820G>A	ENST00000452271.2	-	1	1392	c.1364C>T	c.(1363-1365)gCa>gTa	p.A455V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	455	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAACTGCCCTGCCTCCTTCCC	0.607																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1363-1365)gCa>gTa		suprabasin							44.0	40.0	41.0					19																	36017820		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36017820G>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1364C>T	19.37:g.36017820G>A	ENSP00000430242:p.Ala455Val					SBSN_ENST00000518157.1_Intron	p.A455V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	1392	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		112					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.1364C>T	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	G	6.393	0.440586	0.12104	.	.	ENSG00000189001	ENST00000452271	T	0.39406	1.08	4.07	-6.69	0.01772	.	.	.	.	.	T	0.23133	0.0559	N	0.22421	0.69	0.26856	N	0.968057	B	0.09022	0.002	B	0.10450	0.005	T	0.21895	-1.0232	9	0.33940	T	0.23	.	8.0254	0.30434	0.2697:0.1321:0.5981:0.0	.	455	E9PBV3	.	V	455	ENSP00000430242:A455V	ENSP00000430242:A455V	A	-	2	0	SBSN	40709660	0.000000	0.05858	0.006000	0.13384	0.091000	0.18340	-0.919000	0.04017	-1.315000	0.02297	0.457000	0.33378	GCA		0.607	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		3	8	0	0	0	1	0	3	8				
KRT71	112802	broad.mit.edu	37	12	52943138	52943138	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52943138C>A	ENST00000267119.5	-	3	726		c.e3-1			NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71						hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCTCATACCTGTGGGAATG	0.552																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.e3-1		keratin 71							169.0	138.0	148.0					12																	52943138		2203	4300	6503	SO:0001630	splice_region_variant	112802						structural molecule activity	g.chr12:52943138C>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.657-1G>T	12.37:g.52943138C>A								NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	3	726	-								B3KVC1|Q3SY85|Q96DU2	Splice_Site	SNP	ENST00000267119.5	37		CCDS8831.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088376	0.76756	.	.	ENSG00000139648	ENST00000267119	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT71	51229405	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.045000	0.71020	2.724000	0.93272	0.561000	0.74099	.		0.552	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448	Intron	16	110	1	0	1.99824e-07	1	2.35189e-07	16	110				
SGMS2	166929	broad.mit.edu	37	4	108831512	108831512	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108831512A>C	ENST00000394684.4	+	7	1458	c.901A>C	c.(901-903)Aag>Cag	p.K301Q	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.K301Q|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.K301Q	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	301					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		ACAGAACTTGAAGGTCTCTTC	0.338																																						ENST00000394684.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(901-903)Aag>Cag		sphingomyelin synthase 2	Choline(DB00122)						72.0	77.0	76.0					4																	108831512		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108831512A>C	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.901A>C	4.37:g.108831512A>C	ENSP00000378176:p.Lys301Gln					RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.K301Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.K301Q	p.K301Q	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	7	1458	+			301					A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.901A>C	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016892	0.75161	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.47177	0.85;0.85;0.85	6.07	6.07	0.98685	.	0.143007	0.64402	D	0.000011	T	0.42988	0.1227	L	0.39147	1.195	0.80722	D	1	P	0.47409	0.895	B	0.42030	0.373	T	0.27331	-1.0077	10	0.33141	T	0.24	-10.6263	16.6406	0.85098	1.0:0.0:0.0:0.0	.	301	Q8NHU3	SMS2_HUMAN	Q	301	ENSP00000378176:K301Q;ENSP00000351981:K301Q;ENSP00000378178:K301Q	ENSP00000351981:K301Q	K	+	1	0	SGMS2	109050961	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.681000	0.91228	2.326000	0.78906	0.533000	0.62120	AAG		0.338	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		22	38	0	0	0	1	0	22	38				
TBCD	6904	broad.mit.edu	37	17	80739561	80739561	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80739561G>T	ENST00000355528.4	+	7	865	c.735G>T	c.(733-735)caG>caT	p.Q245H	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.Q245H	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	245					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGACCATGCAGGGGGTCATCA	0.592											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355528.4																			0											c.(733-735)caG>caT		tubulin folding cofactor D							82.0	83.0	83.0					17																	80739561		2088	4218	6306	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80739561G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.735G>T	17.37:g.80739561G>T	ENSP00000347719:p.Gln245His		OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	TBCD_ENST00000539345.2_Missense_Mutation_p.Q245H|TBCD_ENST00000397466.2_5'UTR	p.Q245H	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		7	865	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	245					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.735G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	4.498	0.092444	0.08632	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000536182	T	0.68181	-0.31	5.31	-2.38	0.06622	Armadillo-type fold (1);	.	.	.	.	T	0.31295	0.0792	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.15052	0.003;0.012;0.001	T	0.09465	-1.0673	8	.	.	.	.	1.6367	0.02743	0.142:0.2303:0.2745:0.3531	.	245;245;245	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	H	245;228;245	ENSP00000347719:Q245H	.	Q	+	3	2	TBCD	78332850	0.964000	0.33143	0.011000	0.14972	0.019000	0.09904	-0.133000	0.10451	-0.664000	0.05324	0.449000	0.29647	CAG		0.592	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		6	59	1	0	0.0293803	1	0.0301098	6	59				
DOCK5	80005	broad.mit.edu	37	8	25224467	25224467	+	Missense_Mutation	SNP	C	C	T	rs190638874	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25224467C>T	ENST00000276440.7	+	31	3249	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1069					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAGCCAAGCGCAACAAAAT	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		17740	0.001		0.0	False		,,,				2504	0.001				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3205-3207)Cgc>Tgc		dedicator of cytokinesis 5		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	77.0	79.0		3205	5.9	1.0	8		79	0,8600		0,0,4300	no	missense	DOCK5	NM_024940.6	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1069/1871	25224467	1,13005	2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25224467C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3205C>T	8.37:g.25224467C>T	ENSP00000276440:p.Arg1069Cys						p.R1069C	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	31	3249	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1069					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3205C>T	CCDS6047.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	22.4|22.4	4.281386|4.281386	0.80692|0.80692	2.27E-4|2.27E-4	0.0|0.0	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.25414	.|1.8	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37919|0.37919	0.1021|0.1021	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.47484	.|0.896;0.896;0.896	.|B;B;B	.|0.40285	.|0.325;0.325;0.325	T|T	0.48969|0.48969	-0.8987|-0.8987	5|10	.|0.72032	.|D	.|0.01	.|.	15.1469|15.1469	0.72662|0.72662	0.1412:0.8588:0.0:0.0|0.1412:0.8588:0.0:0.0	.|.	.|1059;844;1069	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	V|C	840|1069	.|ENSP00000276440:R1069C	.|ENSP00000276440:R1069C	A|R	+|+	2|1	0|0	DOCK5|DOCK5	25280384|25280384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	5.761000|5.761000	0.68801|0.68801	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.383	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		10	24	0	0	0	1	0	10	24				
SCN4A	6329	broad.mit.edu	37	17	62038714	62038714	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62038714C>T	ENST00000435607.1	-	11	1760	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	SCN4A_ENST00000578147.1_Missense_Mutation_p.A562T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	562					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)	AGCCACGGGGCGCAGCAGTTC	0.562																																						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.(1684-1686)Gcc>Acc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						202.0	210.0	207.0					17																	62038714		2087	4206	6293	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62038714C>T	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.1684G>A	17.37:g.62038714C>T	ENSP00000396320:p.Ala562Thr					SCN4A_ENST00000578147.1_Missense_Mutation_p.A562T	p.A562T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			11	1760	-			562					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1684G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	c	13.98	2.400062	0.42613	.	.	ENSG00000007314	ENST00000435607	D	0.96011	-3.88	4.29	-3.23	0.05109	.	1.812450	0.02556	N	0.096202	D	0.89694	0.6789	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79208	-0.1898	10	0.56958	D	0.05	.	3.9553	0.09387	0.0986:0.4499:0.0981:0.3533	.	562	P35499	SCN4A_HUMAN	T	562	ENSP00000396320:A562T	ENSP00000396320:A562T	A	-	1	0	SCN4A	59392446	0.000000	0.05858	0.782000	0.31804	0.729000	0.41735	-1.441000	0.02409	-0.477000	0.06832	0.457000	0.33378	GCC		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		73	107	0	0	0	1	0	73	107				
MORN3	283385	broad.mit.edu	37	12	122097205	122097205	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122097205G>A	ENST00000355329.3	-	2	365	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	65						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAAACTTCCAGTCCCCCTCAT	0.572																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(193-195)gaC>gaT		MORN repeat containing 3							150.0	119.0	130.0					12																	122097205		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122097205G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.195C>T	12.37:g.122097205G>A							p.D65D	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	2	365	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		65					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.195C>T	CCDS31917.1																																																																																				0.572	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		8	52	0	0	0	1	0	8	52				
KIAA0556	23247	broad.mit.edu	37	16	27751589	27751589	+	Silent	SNP	C	C	T	rs533625540		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27751589C>T	ENST00000261588.4	+	15	1990	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	657						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGCTTGGTCTCGGTTGCTCAC	0.502																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(1969-1971)ctC>ctT		KIAA0556							64.0	63.0	63.0					16																	27751589		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27751589C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1971C>T	16.37:g.27751589C>T							p.L657L	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	1990	+			657					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.1971C>T	CCDS32415.1																																																																																				0.502	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		6	44	0	0	0	1	0	6	44				
ARHGAP21	57584	broad.mit.edu	37	10	24908579	24908579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24908579G>T	ENST00000396432.2	-	9	2731	c.2245C>A	c.(2245-2247)Cag>Aag	p.Q749K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q536K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	748					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTAAAGGCTGCGGTGTCTGG	0.473																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2245-2247)Cag>Aag		Rho GTPase activating protein 21							108.0	104.0	105.0					10																	24908579		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24908579G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2245C>A	10.37:g.24908579G>T	ENSP00000379709:p.Gln749Lys					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q536K	p.Q749K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	2731	-			748					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2245C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739503	0.49045	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.1	5.1	0.69264	.	0.328877	0.33753	N	0.004584	T	0.54255	0.1847	M	0.73598	2.24	0.45076	D	0.998094	D;P	0.54601	0.967;0.875	P;B	0.46026	0.501;0.304	T	0.54788	-0.8241	10	0.19590	T	0.45	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	739;748	F8W9U9;Q5T5U3	.;RHG21_HUMAN	K	749;536;739;749;584	ENSP00000379709:Q749K;ENSP00000365604:Q536K;ENSP00000365592:Q739K;ENSP00000405018:Q749K	ENSP00000365604:Q536K	Q	-	1	0	ARHGAP21	24948585	1.000000	0.71417	0.950000	0.38849	0.895000	0.52256	7.427000	0.80284	2.509000	0.84616	0.655000	0.94253	CAG		0.473	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		11	84	1	0	2.80697e-09	1	3.39963e-09	11	84				
USP25	29761	broad.mit.edu	37	21	17246839	17246839	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246839T>C	ENST00000285679.6	+	22	3162	c.2793T>C	c.(2791-2793)tgT>tgC	p.C931C	USP25_ENST00000400183.2_Silent_p.C1001C|USP25_ENST00000351097.5_Silent_p.C326C|USP25_ENST00000285681.2_Silent_p.C963C	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	931					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAGAATGTTTGCTAGTAA	0.333																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2887-2889)tgT>tgC		ubiquitin specific peptidase 25							152.0	158.0	156.0					21																	17246839		2203	4299	6502	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17246839T>C	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2793T>C	21.37:g.17246839T>C						USP25_ENST00000285679.6_Silent_p.C931C|USP25_ENST00000400183.2_Silent_p.C1001C|USP25_ENST00000351097.5_Silent_p.C326C	p.C963C			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	23	3258	+			931					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.2889T>C	CCDS33515.1																																																																																				0.333	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			10	111	0	0	0	1	0	10	111				
CERS5	91012	broad.mit.edu	37	12	50524405	50524405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50524405G>A	ENST00000317551.6	-	10	1226	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CERS5_ENST00000422340.2_Missense_Mutation_p.P310S	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	368					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTGTCACAGGGACTTTTTGTG	0.517																																						ENST00000317551.6																			0											c.(1102-1104)Ccc>Tcc		ceramide synthase 5							220.0	177.0	192.0					12																	50524405		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50524405G>A		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.1102C>T	12.37:g.50524405G>A	ENSP00000325485:p.Pro368Ser					CERS5_ENST00000422340.2_Missense_Mutation_p.P310S	p.P368S	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			10	1226	-			368					B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.1102C>T	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	1.888	-0.456295	0.04540	.	.	ENSG00000139624	ENST00000317551;ENST00000422340	T;T	0.11063	3.01;2.81	5.01	1.91	0.25777	.	1.380550	0.04397	N	0.363458	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.35748	-0.9776	10	0.06757	T	0.87	0.041	1.1491	0.01782	0.255:0.1231:0.4266:0.1953	.	310;368	B4DV54;Q8N5B7	.;CERS5_HUMAN	S	368;310	ENSP00000325485:P368S;ENSP00000389050:P310S	ENSP00000325485:P368S	P	-	1	0	CERS5	48810672	0.000000	0.05858	0.026000	0.17262	0.981000	0.71138	0.502000	0.22594	0.306000	0.22856	-0.150000	0.13652	CCC		0.517	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		50	56	0	0	0	1	0	50	56				
DUSP4	1846	broad.mit.edu	37	8	29194883	29194883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29194883G>A	ENST00000240100.2	-	4	1234	c.845C>T	c.(844-846)gCg>gTg	p.A282V	DUSP4_ENST00000240101.2_Missense_Mutation_p.A191V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	282	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGAGATGCCCGCCTGGCAGTG	0.637																																						ENST00000240100.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(844-846)gCg>gTg		dual specificity phosphatase 4							55.0	50.0	51.0					8																	29194883		2203	4300	6503	SO:0001583	missense	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29194883G>A	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.845C>T	8.37:g.29194883G>A	ENSP00000240100:p.Ala282Val					DUSP4_ENST00000240101.2_Missense_Mutation_p.A191V	p.A282V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	4	1234	-			282			Tyrosine-protein phosphatase.		B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.845C>T	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379412	0.95945	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	D;D	0.88509	-2.39;-2.39	4.67	4.67	0.58626	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.94132	0.8118	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94741	0.7919	10	0.87932	D	0	.	15.8673	0.79074	0.0:0.0:1.0:0.0	.	282;191	Q13115;G5E930	DUS4_HUMAN;.	V	282;191	ENSP00000240100:A282V;ENSP00000240101:A191V	ENSP00000240100:A282V	A	-	2	0	DUSP4	29250802	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.703000	0.98714	2.514000	0.84764	0.462000	0.41574	GCG		0.637	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		5	46	0	0	0	1	0	5	46				
GNPNAT1	64841	broad.mit.edu	37	14	53251269	53251269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53251269G>A	ENST00000216410.3	-	2	287	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	RN7SL588P_ENST00000583393.1_RNA|GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	34					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TCTCCAGGATGTGTTGGGGAA	0.403																																						ENST00000216410.3																			0				liver(1)|lung(1)|prostate(1)|skin(1)	4						c.(100-102)Cat>Tat		glucosamine-phosphate N-acetyltransferase 1							74.0	68.0	70.0					14																	53251269		2203	4300	6503	SO:0001583	missense	0				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53251269G>A	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.100C>T	14.37:g.53251269G>A	ENSP00000216410:p.His34Tyr					GNPNAT1_ENST00000554230.1_Intron	p.H34Y	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN			2	287	-	Breast(41;0.176)		34						Missense_Mutation	SNP	ENST00000216410.3	37	c.100C>T	CCDS9712.1	.	.	.	.	.	.	.	.	.	.	G	3.685	-0.064766	0.07273	.	.	ENSG00000100522	ENST00000216410;ENST00000557604	.	.	.	5.68	2.86	0.33363	Acyl-CoA N-acyltransferase (1);	0.528668	0.24506	N	0.037933	T	0.31606	0.0802	L	0.29908	0.895	0.35271	D	0.780424	B	0.09022	0.002	B	0.04013	0.001	T	0.16364	-1.0405	9	0.20046	T	0.44	-3.8678	2.1974	0.03915	0.1487:0.1616:0.4604:0.2293	.	34	Q96EK6	GNA1_HUMAN	Y	34	.	ENSP00000216410:H34Y	H	-	1	0	GNPNAT1	52321019	0.027000	0.19231	0.890000	0.34922	0.980000	0.70556	0.262000	0.18460	0.419000	0.25927	0.591000	0.81541	CAT		0.403	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			17	35	0	0	0	1	0	17	35				
KANK4	163782	broad.mit.edu	37	1	62740589	62740589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62740589G>A	ENST00000371153.4	-	3	565	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	63						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AATTTGGCCTGCTTGGCCCTT	0.542																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(187-189)Cag>Tag		KN motif and ankyrin repeat domains 4							142.0	149.0	146.0					1																	62740589		2203	4300	6503	SO:0001587	stop_gained	163782							g.chr1:62740589G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.187C>T	1.37:g.62740589G>A	ENSP00000360195:p.Gln63*					KANK4_ENST00000354381.3_Intron	p.Q63*	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	565	-			63					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Nonsense_Mutation	SNP	ENST00000371153.4	37	c.187C>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	38	7.237497	0.98154	.	.	ENSG00000132854	ENST00000371153	.	.	.	4.86	4.86	0.63082	.	0.224798	0.22927	N	0.053943	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-12.404	12.5998	0.56491	0.0791:0.0:0.9209:0.0	.	.	.	.	X	63	.	ENSP00000360195:Q63X	Q	-	1	0	KANK4	62513177	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.302000	0.59092	2.524000	0.85096	0.563000	0.77884	CAG		0.542	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		14	145	0	0	0	1	0	14	145				
MARCH8	220972	broad.mit.edu	37	10	45956831	45956831	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45956831T>C	ENST00000319836.3	-	5	1020	c.271A>G	c.(271-273)Agc>Ggc	p.S91G	MARCH8_ENST00000395771.3_Missense_Mutation_p.S91G|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.S91G|MARCH8_ENST00000453424.2_Missense_Mutation_p.S373G	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	91					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATCAGGGGGCTCTCATCATCT	0.582																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1117-1119)Agc>Ggc		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							53.0	53.0	53.0					10																	45956831		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45956831T>C	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.271A>G	10.37:g.45956831T>C	ENSP00000317087:p.Ser91Gly					MARCH8_ENST00000395769.2_Missense_Mutation_p.S91G|MARCH8_ENST00000319836.3_Missense_Mutation_p.S91G|MARCH8_ENST00000395771.3_Missense_Mutation_p.S91G|MARCH8_ENST00000476962.1_5'UTR	p.S373G			Q5T0T0	MARH8_HUMAN			6	1378	-			91					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1117A>G	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.89|16.89	3.247475|3.247475	0.59103|0.59103	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000453424|ENST00000395771;ENST00000319836;ENST00000395769	T|T;T;T	0.44881|0.28255	0.91|1.62;1.62;1.62	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	.|0.068823	.|0.85682	.|D	.|0.000000	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.03294|0.03294	-0.36|-0.36	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.10450	.|0.005;0.002	T|T	0.15292|0.15292	-1.0442|-1.0442	6|10	.|0.18276	.|T	.|0.48	-33.4631|-33.4631	14.1225|14.1225	0.65198|0.65198	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|91;255	.|Q5T0T0;Q5JQ16	.|MARH8_HUMAN;.	G|G	255|91	ENSP00000411848:E255G|ENSP00000379118:S91G;ENSP00000317087:S91G;ENSP00000379116:S91G	.|ENSP00000317087:S91G	E|S	-|-	2|1	0|0	MARCH8|MARCH8	45276837|45276837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.098000|4.098000	0.57748|0.57748	2.283000|2.283000	0.76528|0.76528	0.496000|0.496000	0.49642|0.49642	GAG|AGC		0.582	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		7	51	0	0	0	1	0	7	51				
PLXNA1	5361	broad.mit.edu	37	3	126708301	126708301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126708301G>A	ENST00000393409.2	+	1	865	c.865G>A	c.(865-867)Gac>Aac	p.D289N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D266N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	289	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGTGGACGACCCCAAATT	0.622																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(796-798)Gac>Aac		plexin A1							152.0	152.0	152.0					3																	126708301		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708301G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.865G>A	3.37:g.126708301G>A	ENSP00000377061:p.Asp289Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.D289N	p.D266N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	865	+			289			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.796G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613497	0.87359	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.23754	1.89;1.89	4.15	4.15	0.48705	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000001	T	0.58991	0.2161	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70978	-0.4725	10	0.87932	D	0	.	16.6056	0.84827	0.0:0.0:1.0:0.0	.	289	Q9UIW2	PLXA1_HUMAN	N	289;266	ENSP00000377061:D289N;ENSP00000251772:D266N	ENSP00000251772:D266N	D	+	1	0	PLXNA1	128190991	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	9.539000	0.98076	2.150000	0.67090	0.491000	0.48974	GAC		0.622	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		62	108	0	0	0	1	0	62	108				
NELFE	7936	broad.mit.edu	37	6	31922131	31922131	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31922131A>G	ENST00000375429.3	-	8	1057	c.831T>C	c.(829-831)cgT>cgC	p.R277R	MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Silent_p.R284R|NELFE_ENST00000444811.2_Silent_p.R247R	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	277	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AGAAGGCCCCACGGAGAAGGG	0.517																																						ENST00000375429.3																			0											c.(829-831)cgT>cgC		negative elongation factor complex member E							103.0	95.0	97.0					6																	31922131		2203	4300	6503	SO:0001819	synonymous_variant	7936							g.chr6:31922131A>G	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.831T>C	6.37:g.31922131A>G						NELFE_ENST00000375425.5_Silent_p.R284R|NELFE_ENST00000444811.2_Silent_p.R247R	p.R277R	NM_002904.5	NP_002895.3					8	1057	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	c.831T>C	CCDS4730.1																																																																																				0.517	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			22	41	0	0	0	1	0	22	41				
PPIG	9360	broad.mit.edu	37	2	170492668	170492668	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170492668T>C	ENST00000260970.3	+	13	1304	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.W347R|PPIG_ENST00000448752.2_Missense_Mutation_p.W362R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	362					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TCCTCCACATTGGAGGCAAGA	0.378																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1084-1086)Tgg>Cgg		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						100.0	100.0	100.0					2																	170492668		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170492668T>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1084T>C	2.37:g.170492668T>C	ENSP00000260970:p.Trp362Arg					PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.W347R|PPIG_ENST00000448752.2_Missense_Mutation_p.W362R	p.W362R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			13	1304	+			362					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1084T>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467069	0.63625	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000448752	T;T;T;T	0.59083	1.34;0.29;1.28;1.34	5.99	5.99	0.97316	.	0.060621	0.64402	D	0.000001	T	0.78097	0.4230	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.76494	0.999;0.984;0.999;0.984	D;P;D;P	0.83275	0.915;0.819;0.996;0.754	T	0.81439	-0.0932	10	0.87932	D	0	-6.1082	15.0653	0.71989	0.0:0.0:0.0:1.0	.	355;347;347;362	C9JM79;E9PG73;Q2NKQ6;Q13427	.;.;.;PPIG_HUMAN	R	362;362;355;347;362	ENSP00000260970:W362R;ENSP00000408683:W355R;ENSP00000386245:W347R;ENSP00000407083:W362R	ENSP00000260970:W362R	W	+	1	0	PPIG	170200914	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.368000	0.79567	2.291000	0.77112	0.533000	0.62120	TGG		0.378	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			7	71	0	0	0	1	0	7	71				
DOPEY2	9980	broad.mit.edu	37	21	37537168	37537168	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37537168A>C	ENST00000399151.3	+	2	222	c.137A>C	c.(136-138)aAg>aCg	p.K46T	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	46					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAACTCAACAAGGTATGTAGG	0.348																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.e2+1		dopey family member 2							126.0	126.0	126.0					21																	37537168		2203	4300	6503	SO:0001630	splice_region_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37537168A>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.138+1A>C	21.37:g.37537168A>C						DOPEY2_ENST00000492760.1_3'UTR	p.K46_splice	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			2	222	+			46					D3DSG5|Q6PJQ7|Q9UEZ3	Splice_Site	SNP	ENST00000399151.3	37	c.138_splice	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517112	0.85495	.	.	ENSG00000142197	ENST00000270190;ENST00000399151	T	0.20738	2.05	5.77	5.77	0.91146	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.93462	3.42	0.80722	D	1	D;D	0.63046	0.983;0.992	P;P	0.60173	0.794;0.87	T	0.67941	-0.5540	10	0.87932	D	0	-21.1552	16.3948	0.83586	1.0:0.0:0.0:0.0	.	46;46	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	46	ENSP00000382104:K46T	ENSP00000270190:K46T	K	+	2	0	DOPEY2	36459038	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.706000	0.91362	2.326000	0.78906	0.533000	0.62120	AAG		0.348	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	Missense_Mutation	4	104	0	0	0	1	0	4	104				
LGR6	59352	broad.mit.edu	37	1	202245467	202245467	+	Silent	SNP	G	G	A	rs201050220		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202245467G>A	ENST00000367278.3	+	5	551	c.462G>A	c.(460-462)ccG>ccA	p.P154P	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.P102P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	154					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCCTGGTCCCGGAGAGGAGCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18987	0.001		0.0	False		,,,				2504	0.0					ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(460-462)ccG>ccA		leucine-rich repeat containing G protein-coupled receptor 6		G	,,	1,4405	2.1+/-5.4	0,1,2202	69.0	64.0	66.0		462,,306	0.6	1.0	1		66	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	154/968,,102/916	202245467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245467G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.462G>A	1.37:g.202245467G>A						LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.P102P|LGR6_ENST00000308543.3_3'UTR	p.P154P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			5	551	+			154					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.462G>A	CCDS30971.1																																																																																				0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		29	54	0	0	0	1	0	29	54				
LRRCC1	85444	broad.mit.edu	37	8	86044046	86044046	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86044046C>A	ENST00000360375.3	+	12	1967	c.1818C>A	c.(1816-1818)gcC>gcA	p.A606A	LRRCC1_ENST00000414626.2_Silent_p.A586A	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	606					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCCAGGATGCCTTAGCTAAAG	0.358																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1756-1758)gcC>gcA		leucine rich repeat and coiled-coil centrosomal protein 1							93.0	85.0	88.0					8																	86044046		1830	4083	5913	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86044046C>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1818C>A	8.37:g.86044046C>A						LRRCC1_ENST00000360375.3_Silent_p.A606A	p.A586A			Q9C099	LRCC1_HUMAN			11	2647	+			606					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.1758C>A	CCDS43750.1																																																																																				0.358	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		15	36	1	0	2.35188e-11	1	2.93101e-11	15	36				
NEUROG2	63973	broad.mit.edu	37	4	113435853	113435853	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113435853C>T	ENST00000313341.3	-	2	1105	c.779G>A	c.(778-780)cGc>cAc	p.R260H	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	260					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGTGCATAGCGGTGCTTGTC	0.607																																						ENST00000313341.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(778-780)cGc>cAc		neurogenin 2							29.0	31.0	30.0					4																	113435853		2203	4300	6503	SO:0001583	missense	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113435853C>T	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.779G>A	4.37:g.113435853C>T	ENSP00000317333:p.Arg260His						p.R260H	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	1105	-		Ovarian(17;0.156)	260					Q8N416	Missense_Mutation	SNP	ENST00000313341.3	37	c.779G>A	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382730	0.42207	.	.	ENSG00000178403	ENST00000313341	D	0.91686	-2.89	4.22	4.22	0.49857	.	0.000000	0.45867	D	0.000329	D	0.90539	0.7035	N	0.20986	0.625	0.36675	D	0.878705	D	0.71674	0.998	P	0.62014	0.897	D	0.90141	0.4213	10	0.30854	T	0.27	-11.3981	10.7109	0.45982	0.1905:0.8095:0.0:0.0	.	260	Q9H2A3	NGN2_HUMAN	H	260	ENSP00000317333:R260H	ENSP00000317333:R260H	R	-	2	0	NEUROG2	113655302	0.957000	0.32711	1.000000	0.80357	0.891000	0.51852	0.559000	0.23485	2.176000	0.68965	0.655000	0.94253	CGC		0.607	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		5	15	0	0	0	1	0	5	15				
LRP5	4041	broad.mit.edu	37	11	68157500	68157500	+	Missense_Mutation	SNP	G	G	A	rs80358309		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68157500G>A	ENST00000294304.7	+	7	1670	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	522	Beta-propeller 2.		A -> T (in EVR4). {ECO:0000269|PubMed:15981244}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGAGACGCCAAGACAGA	0.642																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CM053294	LRP5	M	rs80358309	c.(1564-1566)Gcc>Acc		low density lipoprotein receptor-related protein 5							142.0	113.0	123.0					11																	68157500		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68157500G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1564G>A	11.37:g.68157500G>A	ENSP00000294304:p.Ala522Thr						p.A522T	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			7	1670	+			522		A -> T (in EVR4).	Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1564G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848277	0.91277	.	.	ENSG00000162337	ENST00000294304	D	0.96427	-4.01	3.28	3.28	0.37604	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.46442	U	0.000299	D	0.97720	0.9252	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.98429	1.0581	10	0.87932	D	0	.	15.8353	0.78793	0.0:0.0:1.0:0.0	.	522	O75197	LRP5_HUMAN	T	522	ENSP00000294304:A522T	ENSP00000294304:A522T	A	+	1	0	LRP5	67914076	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.413000	0.97351	2.156000	0.67533	0.542000	0.68232	GCC		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		14	20	0	0	0	1	0	14	20				
POLE	5426	broad.mit.edu	37	12	133253151	133253151	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133253151G>T	ENST00000320574.5	-	9	933	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	POLE_ENST00000535270.1_Missense_Mutation_p.S270Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	297					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GATCATGTAGGAAATCATCAT	0.527								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(889-891)tCc>tAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							104.0	90.0	95.0					12																	133253151		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133253151G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.890C>A	12.37:g.133253151G>T	ENSP00000322570:p.Ser297Tyr					POLE_ENST00000535270.1_Missense_Mutation_p.S270Y	p.S297Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	9	933	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	297					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.890C>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963005	0.92791	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.68	5.68	0.88126	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69105	-0.5233	10	0.87932	D	0	.	19.7802	0.96413	0.0:0.0:1.0:0.0	.	270;297	F5H1D6;Q07864	.;DPOE1_HUMAN	Y	297;308;270;77;232	ENSP00000322570:S297Y;ENSP00000406383:S308Y;ENSP00000445753:S270Y;ENSP00000442519:S77Y	ENSP00000322570:S297Y	S	-	2	0	POLE	131763224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.762000	0.98944	2.669000	0.90835	0.561000	0.74099	TCC		0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		6	20	1	0	0.27861	1	0.279982	6	20				
ICOSLG	23308	broad.mit.edu	37	21	45656874	45656874	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45656874G>A	ENST00000407780.3	-	3	409	c.282C>T	c.(280-282)ggC>ggT	p.G94G	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.G94G|ICOSLG_ENST00000344330.4_Silent_p.G94G	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	94	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGGAGAAGTCGCCCCGCAGCA	0.607																																						ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(280-282)ggC>ggT		inducible T-cell co-stimulator ligand							79.0	96.0	90.0					21																	45656874		2158	4267	6425	SO:0001819	synonymous_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45656874G>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.282C>T	21.37:g.45656874G>A						ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.G94G|ICOSLG_ENST00000344330.4_Silent_p.G94G	p.G94G			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	409	-			94			Ig-like V-type.		A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	ENST00000407780.3	37	c.282C>T	CCDS42952.1																																																																																				0.607	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		16	44	0	0	0	1	0	16	44				
PRDM11	56981	broad.mit.edu	37	11	45203856	45203856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45203856G>A	ENST00000530656.1	+	3	281	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PRDM11_ENST00000424263.2_Missense_Mutation_p.R60H|PRDM11_ENST00000263765.4_Missense_Mutation_p.R94H			Q9NQV5	PRD11_HUMAN	PR domain containing 11	94							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGGGAAGCGCGACCTCATC	0.587																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(280-282)cGc>cAc		PR domain containing 11							79.0	73.0	75.0					11																	45203856		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45203856G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.281G>A	11.37:g.45203856G>A	ENSP00000435976:p.Arg94His					PRDM11_ENST00000530656.1_Missense_Mutation_p.R94H|PRDM11_ENST00000424263.2_Missense_Mutation_p.R60H	p.R94H			Q9NQV5	PRD11_HUMAN			4	530	+			94					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.281G>A		.	.	.	.	.	.	.	.	.	.	G	21.6	4.167160	0.78339	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000019	T	0.55226	0.1907	L	0.40543	1.245	0.32107	N	0.589805	D	0.76494	0.999	P	0.61132	0.884	T	0.64914	-0.6295	10	0.72032	D	0.01	-9.4146	12.7304	0.57195	0.0796:0.0:0.9204:0.0	.	94	Q9NQV5	PRD11_HUMAN	H	94;94;60;60	ENSP00000263765:R94H;ENSP00000435976:R94H;ENSP00000431898:R60H;ENSP00000394314:R60H	ENSP00000263765:R94H	R	+	2	0	PRDM11	45160432	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.165000	0.50778	2.331000	0.79229	0.491000	0.48974	CGC		0.587	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		15	27	0	0	0	1	0	15	27				
CWF19L2	143884	broad.mit.edu	37	11	107299983	107299983	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107299983T>C	ENST00000282251.5	-	8	1002	c.975A>G	c.(973-975)aaA>aaG	p.K325K	CWF19L2_ENST00000433523.1_Silent_p.K325K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	325							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TATTGCTATTTTTTGCAGTAT	0.323																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(973-975)aaA>aaG		CWF19-like 2, cell cycle control (S. pombe)							100.0	97.0	98.0					11																	107299983		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107299983T>C	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.975A>G	11.37:g.107299983T>C						CWF19L2_ENST00000433523.1_Silent_p.K325K	p.K325K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	1002	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	325					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.975A>G	CCDS8336.2																																																																																				0.323	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		6	60	0	0	0	1	0	6	60				
CACNA1C	775	broad.mit.edu	37	12	2656628	2656628	+	Missense_Mutation	SNP	C	C	T	rs551195040		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2656628C>T	ENST00000335762.5	+	10	1668	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399655.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	463					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCACTCCGGCGGGCATGCTT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18829	0.0		0.0	False		,,,				2504	0.0					ENST00000335762.5																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1402-1404)gCg>gTg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						62.0	57.0	58.0					12																	2656628		876	1991	2867	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2656628C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000335762.5:c.1403C>T	12.37:g.2656628C>T	ENSP00000336982:p.Ala468Val					CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399638.1_Intron	p.A468V			Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	10	1668	+			463					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000335762.5	37	c.1403C>T		.	.	.	.	.	.	.	.	.	.	C	15.79	2.937705	0.52972	.	.	ENSG00000151067	ENST00000335762	D	0.93604	-3.25	5.17	3.35	0.38373	.	.	.	.	.	D	0.92126	0.7504	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87935	0.2713	6	0.30078	T	0.28	.	8.6258	0.33888	0.1508:0.7729:0.0:0.0764	.	.	.	.	V	468	ENSP00000336982:A468V	ENSP00000336982:A468V	A	+	2	0	CACNA1C	2526889	1.000000	0.71417	0.929000	0.37066	0.985000	0.73830	0.992000	0.29667	0.751000	0.32900	0.650000	0.86243	GCG		0.493	CACNA1C-015	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000317033.5	NM_000719		12	16	0	0	0	1	0	12	16				
JAG1	182	broad.mit.edu	37	20	10625555	10625555	+	Missense_Mutation	SNP	G	G	A	rs140330283	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625555G>A	ENST00000254958.5	-	18	2815	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	JAG1_ENST00000423891.2_Missense_Mutation_p.T608M|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	767	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGACGCACGTAAAGGACTC	0.592									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2299-2301)aCg>aTg		jagged 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	167.0	170.0	169.0		2300	5.1	1.0	20	dbSNP_134	169	2,8598	2.2+/-6.3	0,2,4298	yes	missense	JAG1	NM_000214.2	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	767/1219	10625555	3,13003	2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10625555G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2300C>T	20.37:g.10625555G>A	ENSP00000254958:p.Thr767Met					JAG1_ENST00000423891.2_Missense_Mutation_p.T608M	p.T767M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			18	2815	-			767			EGF-like 14.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.2300C>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615879	0.66672	2.27E-4	2.33E-4	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87650	-2.28;-2.28	6.07	5.1	0.69264	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.095761	0.64402	D	0.000001	D	0.87684	0.6239	L	0.58354	1.805	0.58432	D	0.999997	P	0.45957	0.869	P	0.45406	0.479	D	0.87844	0.2653	10	0.49607	T	0.09	.	17.3312	0.87264	0.0:0.1251:0.8749:0.0	.	767	P78504	JAG1_HUMAN	M	767;608	ENSP00000254958:T767M;ENSP00000389519:T608M	ENSP00000254958:T767M	T	-	2	0	JAG1	10573555	1.000000	0.71417	0.955000	0.39395	0.685000	0.39939	5.515000	0.67049	1.536000	0.49237	0.655000	0.94253	ACG		0.592	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		73	117	0	0	0	1	0	73	117				
YES1	7525	broad.mit.edu	37	18	743026	743026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:743026G>T	ENST00000584307.1	-	8	1122	c.952C>A	c.(952-954)Ctt>Att	p.L318I	YES1_ENST00000577961.1_Missense_Mutation_p.L323I|YES1_ENST00000314574.4_Missense_Mutation_p.L318I			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GCTTCTTGAAGGAAAGCTTCT	0.323																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(952-954)Ctt>Att		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						116.0	111.0	113.0					18																	743026		2203	4299	6502	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:743026G>T	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.952C>A	18.37:g.743026G>T	ENSP00000462468:p.Leu318Ile					YES1_ENST00000577961.1_Missense_Mutation_p.L323I|YES1_ENST00000314574.4_Missense_Mutation_p.L318I	p.L318I			P07947	YES_HUMAN			8	1122	-			318			Protein kinase.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.952C>A	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012998	0.75161	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.83673	-1.75	5.78	5.78	0.91487	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	D	0.89435	0.3719	10	0.72032	D	0.01	.	13.243	0.60008	0.0721:0.0:0.9279:0.0	.	318	P07947	YES_HUMAN	I	318	ENSP00000324740:L318I	ENSP00000324740:L318I	L	-	1	0	YES1	733026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.145000	0.58065	2.735000	0.93741	0.650000	0.86243	CTT		0.323	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		10	72	1	0	0.000442599	1	0.00048047	10	72				
CERS4	79603	broad.mit.edu	37	19	8326599	8326599	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8326599C>T	ENST00000251363.5	+	11	1176	c.876C>T	c.(874-876)tcC>tcT	p.S292S	CERS4_ENST00000559450.1_Silent_p.S292S|CERS4_ENST00000558331.1_Silent_p.S241S|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000595722.1_3'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	292	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACTACGAGTCCATCAGCAACA	0.557																																						ENST00000558331.1																			0											c.(721-723)tcC>tcT		ceramide synthase 4							106.0	92.0	97.0					19																	8326599		2203	4300	6503	SO:0001819	synonymous_variant	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8326599C>T		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.876C>T	19.37:g.8326599C>T						CERS4_ENST00000559450.1_Silent_p.S292S|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000251363.5_Silent_p.S292S	p.S241S			Q9HA82	CERS4_HUMAN			11	1182	+			292			TLC.		D6W665	Silent	SNP	ENST00000251363.5	37	c.723C>T	CCDS12197.1																																																																																				0.557	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		21	58	0	0	0	1	0	21	58				
MN1	4330	broad.mit.edu	37	22	28192905	28192905	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28192905G>A	ENST00000302326.4	-	1	4581	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1209					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCTCATGGCGCTCTTGACCG	0.667			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(3625-3627)agC>agT		meningioma (disrupted in balanced translocation) 1							41.0	44.0	43.0					22																	28192905		2152	4264	6416	SO:0001819	synonymous_variant	4330						binding	g.chr22:28192905G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3627C>T	22.37:g.28192905G>A							p.S1209S	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	4581	-			1209					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3627C>T	CCDS42998.1																																																																																				0.667	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		17	21	0	0	0	1	0	17	21				
VHLL	391104	broad.mit.edu	37	1	156268735	156268735	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156268735C>T	ENST00000339922.3	-	1	693	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	82	Beta-domain.									endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CGGGCAGCAGCGTCAGGTAGG	0.557																																						ENST00000339922.3																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(244-246)acG>acA		von Hippel-Lindau tumor suppressor-like							87.0	79.0	81.0					1																	156268735		2203	4300	6503	SO:0001819	synonymous_variant	391104				protein ubiquitination	nucleus		g.chr1:156268735C>T			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.246G>A	1.37:g.156268735C>T							p.T82T	NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN			1	693	-	Hepatocellular(266;0.158)		82			Beta-domain.		A1L4M4	Silent	SNP	ENST00000339922.3	37	c.246G>A																																																																																					0.557	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		38	28	0	0	0	1	0	38	28				
MSL2	55167	broad.mit.edu	37	3	135870463	135870463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135870463G>T	ENST00000309993.2	-	2	1992	c.1260C>A	c.(1258-1260)caC>caA	p.H420Q	MSL2_ENST00000434835.2_Missense_Mutation_p.H346Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	420	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGTTTTAGAGTGAGATTTCT	0.373																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1258-1260)caC>caA		male-specific lethal 2 homolog (Drosophila)							136.0	141.0	139.0					3																	135870463		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870463G>T	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1260C>A	3.37:g.135870463G>T	ENSP00000311827:p.His420Gln					MSL2_ENST00000434835.2_Missense_Mutation_p.H346Q	p.H420Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	1992	-			420			Lys-rich.		B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1260C>A	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385382	0.11524	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.63	4.76	0.60689	.	0.101497	0.64402	D	0.000002	T	0.41259	0.1151	N	0.22421	0.69	0.44843	D	0.997854	B	0.22346	0.068	B	0.22152	0.038	T	0.23368	-1.0190	9	0.27785	T	0.31	-6.3621	9.9989	0.41916	0.1531:0.0:0.8469:0.0	.	420	Q9HCI7	MSL2_HUMAN	Q	420;346	.	ENSP00000311827:H420Q	H	-	3	2	MSL2	137353153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.016000	0.29976	1.378000	0.46305	0.551000	0.68910	CAC		0.373	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		9	129	1	0	7.48243e-07	1	8.70085e-07	9	129				
RNF150	57484	broad.mit.edu	37	4	141832381	141832381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832381G>T	ENST00000515673.2	-	6	1148	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	RNF150_ENST00000420921.2_Missense_Mutation_p.A231D|RNF150_ENST00000306799.3_Missense_Mutation_p.A330D|RNF150_ENST00000507500.1_Missense_Mutation_p.A372D|RNF150_ENST00000379512.2_Missense_Mutation_p.A231D			Q9ULK6	RN150_HUMAN	ring finger protein 150	372						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AGTCCGGACAGCAGGGTCCAA	0.557																																						ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(988-990)gCt>gAt		ring finger protein 150							100.0	98.0	99.0					4																	141832381		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141832381G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.1115C>A	4.37:g.141832381G>T	ENSP00000425840:p.Ala372Asp					RNF150_ENST00000379512.2_Missense_Mutation_p.A231D|RNF150_ENST00000507500.1_Missense_Mutation_p.A372D|RNF150_ENST00000420921.2_Missense_Mutation_p.A231D|RNF150_ENST00000515673.1_Missense_Mutation_p.A372D	p.A330D	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN			6	1642	-	all_hematologic(180;0.162)		372					Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.989C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765893	0.69878	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.15139	2.45;2.45;2.47;3.46;3.46;2.48	5.74	5.74	0.90152	.	0.291336	0.31685	N	0.007224	T	0.15176	0.0366	N	0.19112	0.55	0.36876	D	0.889141	P;P;B	0.40875	0.731;0.59;0.177	B;B;B	0.39419	0.299;0.22;0.157	T	0.06023	-1.0850	10	0.39692	T	0.17	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	330;372;372	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	D	231;231;330;372;372;203	ENSP00000368827:A231D;ENSP00000394581:A231D;ENSP00000304321:A330D;ENSP00000425840:A372D;ENSP00000425568:A372D;ENSP00000425947:A203D	ENSP00000304321:A330D	A	-	2	0	RNF150	142051831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.213000	0.72194	2.709000	0.92574	0.655000	0.94253	GCT		0.557	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		28	37	1	0	2.65835e-16	1	3.4289e-16	28	37				
ASIC1	41	broad.mit.edu	37	12	50480112	50480112	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50480112G>A	ENST00000447966.2	+	0	3778				SMARCD1_ENST00000394963.4_Missense_Mutation_p.V116I|SMARCD1_ENST00000548573.1_5'Flank|SMARCD1_ENST00000381513.4_Missense_Mutation_p.V116I	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GCAGCAGGCGGTCCAAAATCG	0.612																																						ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(346-348)Gtc>Atc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1							33.0	35.0	34.0					12																	50480112		2203	4300	6503	SO:0001628	intergenic_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50480112G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812		12.37:g.50480112G>A						SMARCD1_ENST00000381513.4_Missense_Mutation_p.V116I	p.V116I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			2	744	+			116			Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.346G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	9.153	1.016799	0.19355	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000551497	D;D;T	0.84944	-1.92;-1.92;0.37	5.19	5.19	0.71726	.	0.369134	0.28219	N	0.016156	T	0.77818	0.4187	N	0.19112	0.55	0.80722	D	1	B;B;B	0.25719	0.132;0.018;0.004	B;B;B	0.23574	0.047;0.012;0.005	T	0.73043	-0.4107	10	0.36615	T	0.2	-14.1862	19.11	0.93313	0.0:0.0:1.0:0.0	.	116;116;116	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	I	116;116;116;116;54	ENSP00000378414:V116I;ENSP00000370924:V116I;ENSP00000449825:V54I	ENSP00000370924:V116I	V	+	1	0	SMARCD1	48766379	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.501000	0.66950	2.588000	0.87417	0.650000	0.86243	GTC		0.612	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		12	19	0	0	0	1	0	12	19				
DCAF8L1	139425	broad.mit.edu	37	X	27999353	27999353	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27999353C>T	ENST00000441525.1	-	1	213	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(97-99)acG>acA		DDB1 and CUL4 associated factor 8-like 1							54.0	43.0	47.0					X																	27999353		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999353C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.99G>A	X.37:g.27999353C>T							p.T33T	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	213	-			33					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.99G>A	CCDS35222.1																																																																																				0.567	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		13	22	0	0	0	1	0	13	22				
SMAD1	4086	broad.mit.edu	37	4	146475083	146475083	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146475083T>A	ENST00000515385.1	+	6	1687	c.1145T>A	c.(1144-1146)aTt>aAt	p.I382N	SMAD1_ENST00000302085.4_Missense_Mutation_p.I382N|SMAD1_ENST00000394092.2_Missense_Mutation_p.I382N			Q15797	SMAD1_HUMAN	SMAD family member 1	382	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AGTCTGAAAATTTTTAACAAC	0.398																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(1144-1146)aTt>aAt		SMAD family member 1							165.0	159.0	161.0					4																	146475083		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146475083T>A	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1145T>A	4.37:g.146475083T>A	ENSP00000426568:p.Ile382Asn					SMAD1_ENST00000394092.2_Missense_Mutation_p.I382N|SMAD1_ENST00000302085.4_Missense_Mutation_p.I382N	p.I382N			Q15797	SMAD1_HUMAN			6	1687	+	all_hematologic(180;0.151)		382			MH2.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.1145T>A	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859275	0.91433	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.97850	-4.57;-4.57;-4.57	5.73	5.73	0.89815	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	H	0.95712	3.71	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99278	1.0895	10	0.87932	D	0	.	16.0207	0.80486	0.0:0.0:0.0:1.0	.	382	Q15797	SMAD1_HUMAN	N	382	ENSP00000305769:I382N;ENSP00000377652:I382N;ENSP00000426568:I382N	ENSP00000305769:I382N	I	+	2	0	SMAD1	146694533	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	2.179000	0.69175	0.528000	0.53228	ATT		0.398	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		12	111	0	0	0	1	0	12	111				
PTPRU	10076	broad.mit.edu	37	1	29606579	29606579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29606579G>A	ENST00000345512.3	+	11	1923	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PTPRU_ENST00000323874.8_Silent_p.P598P|PTPRU_ENST00000373779.3_Silent_p.P598P|PTPRU_ENST00000460170.2_Silent_p.P598P|PTPRU_ENST00000356870.3_Silent_p.P598P|PTPRU_ENST00000428026.2_Silent_p.P598P|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	598	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCGACATGCCGTCACCCCTGG	0.647																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1792-1794)ccG>ccA		protein tyrosine phosphatase, receptor type, U							65.0	65.0	65.0					1																	29606579		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29606579G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1794G>A	1.37:g.29606579G>A						PTPRU_ENST00000428026.2_Silent_p.P598P|PTPRU_ENST00000460170.2_Silent_p.P598P|PTPRU_ENST00000356870.3_Silent_p.P598P|PTPRU_ENST00000323874.8_Silent_p.P598P|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.P598P	p.P598P	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	11	1923	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	598			Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.1794G>A	CCDS334.1																																																																																				0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			17	27	0	0	0	1	0	17	27				
SFXN5	94097	broad.mit.edu	37	2	73172191	73172191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73172191G>A	ENST00000272433.2	-	14	1113	c.983C>T	c.(982-984)gCc>gTc	p.A328V	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_3'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	328					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GCTGCTCGTGGCCTGGGCTAT	0.612																																						ENST00000272433.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(982-984)gCc>gTc		sideroflexin 5							66.0	49.0	55.0					2																	73172191		2203	4300	6503	SO:0001583	missense	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73172191G>A	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.983C>T	2.37:g.73172191G>A	ENSP00000272433:p.Ala328Val					SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_3'UTR	p.A328V	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN			14	1113	-			328					A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	c.983C>T	CCDS1922.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955449	0.53293	.	.	ENSG00000144040	ENST00000272433	T	0.30448	1.53	5.5	5.5	0.81552	.	0.058054	0.64402	D	0.000002	T	0.31796	0.0808	L	0.52759	1.655	0.80722	D	1	P;B	0.49185	0.92;0.326	B;B	0.42462	0.388;0.138	T	0.03259	-1.1055	10	0.31617	T	0.26	-19.7194	16.1182	0.81324	0.0:0.0:1.0:0.0	.	177;328	B4DIJ8;Q8TD22	.;SFXN5_HUMAN	V	328	ENSP00000272433:A328V	ENSP00000272433:A328V	A	-	2	0	SFXN5	73025699	1.000000	0.71417	0.977000	0.42913	0.854000	0.48673	6.442000	0.73443	2.585000	0.87301	0.462000	0.41574	GCC		0.612	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		11	10	0	0	0	1	0	11	10				
ECT2L	345930	broad.mit.edu	37	6	139202188	139202188	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139202188T>G	ENST00000423192.1	+	14	1921	c.1760T>G	c.(1759-1761)aTt>aGt	p.I587S	ECT2L_ENST00000541398.1_Missense_Mutation_p.I518S|ECT2L_ENST00000367682.2_Missense_Mutation_p.I587S|RP3-509I19.6_ENST00000572284.1_RNA			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	587	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATACTGGAAATTGTGAGAGAT	0.428			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1759-1761)aTt>aGt		epithelial cell transforming sequence 2 oncogene-like							120.0	113.0	115.0					6																	139202188		1951	4177	6128	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139202188T>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1760T>G	6.37:g.139202188T>G	ENSP00000387388:p.Ile587Ser					ECT2L_ENST00000541398.1_Missense_Mutation_p.I518S|ECT2L_ENST00000367682.2_Missense_Mutation_p.I587S	p.I587S			Q008S8	ECT2L_HUMAN			14	1921	+			587			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1760T>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499340	0.26861	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.64618	-0.11;-0.11;-0.11	5.53	0.253	0.15551	Dbl homology (DH) domain (5);	0.553960	0.13317	U	0.397017	T	0.39358	0.1075	M	0.62723	1.935	0.09310	N	1	B;B	0.28933	0.228;0.192	B;B	0.32211	0.083;0.142	T	0.45862	-0.9232	10	0.72032	D	0.01	4.1897	8.7253	0.34465	0.0:0.3132:0.0:0.6868	.	518;587	F5H7S9;Q008S8	.;ECT2L_HUMAN	S	587;587;518	ENSP00000387388:I587S;ENSP00000356655:I587S;ENSP00000442307:I518S	ENSP00000356655:I587S	I	+	2	0	ECT2L	139243881	0.010000	0.17322	0.001000	0.08648	0.882000	0.50991	0.915000	0.28638	0.071000	0.16664	0.533000	0.62120	ATT		0.428	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		5	33	0	0	0	1	0	5	33				
KIT	3815	broad.mit.edu	37	4	55593703	55593703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55593703G>A	ENST00000288135.5	+	11	1866	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S590N(3)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAGGCTGAGTTTTGGTCAG	0.413		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		3	Substitution - Missense(3)	p.S590N(3)	eye(2)|soft_tissue(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1768-1770)aGt>aAt		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						65.0	64.0	64.0					4																	55593703		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55593703G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1769G>A	4.37:g.55593703G>A	ENSP00000288135:p.Ser590Asn						p.S590N	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	11	1866	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		590			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1769G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818954	0.50633	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82803	-1.65;-1.65	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	N	0.17631	0.505	0.39576	D	0.969365	B;B;P	0.38420	0.18;0.421;0.63	B;B;B	0.42462	0.073;0.162;0.388	T	0.77469	-0.2576	10	0.39692	T	0.17	.	16.1383	0.81506	0.0:0.0:0.8659:0.1341	.	97;586;590	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	N	590;586	ENSP00000288135:S590N;ENSP00000390987:S586N	ENSP00000288135:S590N	S	+	2	0	KIT	55288460	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.379000	0.66196	2.876000	0.98609	0.655000	0.94253	AGT		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			28	40	0	0	0	1	0	28	40				
ACTL6B	51412	broad.mit.edu	37	7	100253147	100253147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100253147C>A	ENST00000160382.5	-	3	271	c.165G>T	c.(163-165)gaG>gaT	p.E55D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	55	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting. {ECO:0000250}.				chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTTTGTCCCCCTCCAGCTCCA	0.637																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(163-165)gaG>gaT		actin-like 6B							118.0	88.0	98.0					7																	100253147		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100253147C>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.165G>T	7.37:g.100253147C>A	ENSP00000160382:p.Glu55Asp						p.E55D	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			3	271	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		55			Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).		A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.165G>T	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	c	2.429	-0.331241	0.05314	.	.	ENSG00000077080	ENST00000160382	D	0.94576	-3.46	4.12	2.09	0.27110	.	0.139623	0.32935	N	0.005473	T	0.77096	0.4080	N	0.00750	-1.22	0.49483	D	0.999796	B	0.02656	0.0	B	0.01281	0.0	T	0.66586	-0.5886	10	0.16896	T	0.51	.	4.4658	0.11689	0.3305:0.5512:0.0:0.1183	.	55	O94805	ACL6B_HUMAN	D	55	ENSP00000160382:E55D	ENSP00000160382:E55D	E	-	3	2	ACTL6B	100091083	0.859000	0.29813	1.000000	0.80357	0.990000	0.78478	-0.031000	0.12287	0.943000	0.37553	0.457000	0.33378	GAG		0.637	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		5	68	1	0	0.0293803	1	0.0301098	5	68				
PLEKHG4	25894	broad.mit.edu	37	16	67319222	67319222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67319222C>A	ENST00000360461.5	+	13	4760	c.2225C>A	c.(2224-2226)gCc>gAc	p.A742D	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A742D|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A661D|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A742D	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	742	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GAGATGGTGGCCACGGAGCGG	0.622																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2224-2226)gCc>gAc		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							61.0	61.0	61.0					16																	67319222		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319222C>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2225C>A	16.37:g.67319222C>A	ENSP00000353646:p.Ala742Asp					PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A742D|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A742D|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A661D	p.A742D	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4760	+			742			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2225C>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363232	0.95877	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.33217	N	0.005160	T	0.58018	0.2093	N	0.21282	0.65	0.45097	D	0.998113	D;P	0.53462	0.96;0.873	P;P	0.52856	0.711;0.688	T	0.53027	-0.8496	10	0.15066	T	0.55	.	16.6264	0.84971	0.0:1.0:0.0:0.0	.	661;742	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	D	742;742;742;661	ENSP00000353646:A742D;ENSP00000401118:A742D;ENSP00000368649:A742D;ENSP00000398030:A661D	ENSP00000353646:A742D	A	+	2	0	PLEKHG4	65876723	1.000000	0.71417	0.984000	0.44739	0.818000	0.46254	4.848000	0.62874	2.178000	0.69098	0.561000	0.74099	GCC		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		4	51	1	0	0.00909568	1	0.00947522	4	51				
PCSK1	5122	broad.mit.edu	37	5	95730650	95730650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:95730650A>G	ENST00000311106.3	-	13	2039	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.M554T|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	601					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGCTGCTTCATATGCTCTGG	0.473																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1801-1803)aTg>aCg		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						226.0	194.0	205.0					5																	95730650		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95730650A>G		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1802T>C	5.37:g.95730650A>G	ENSP00000308024:p.Met601Thr					PCSK1_ENST00000508626.1_Missense_Mutation_p.M554T|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	p.M601T	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	13	2039	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	601					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1802T>C	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065189	0.76187	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.66638	-0.06;-0.22	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.61703	1.905	0.80722	D	1	P;D	0.54047	0.65;0.964	B;P	0.50136	0.306;0.632	T	0.66842	-0.5821	10	0.13853	T	0.58	-24.1501	16.2769	0.82647	1.0:0.0:0.0:0.0	.	554;601	E9PHA1;P29120	.;NEC1_HUMAN	T	601;554	ENSP00000308024:M601T;ENSP00000421600:M554T	ENSP00000308024:M601T	M	-	2	0	PCSK1	95756406	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.303000	0.96183	2.315000	0.78130	0.533000	0.62120	ATG		0.473	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		13	69	0	0	0	1	0	13	69				
ITPR2	3709	broad.mit.edu	37	12	26816658	26816658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26816658C>T	ENST00000381340.3	-	15	2089	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	558					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTCAGGACGCGGTAACAGAG	0.478																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1672-1674)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 2							250.0	252.0	251.0					12																	26816658		1895	4122	6017	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26816658C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1673G>A	12.37:g.26816658C>T	ENSP00000370744:p.Arg558His						p.R558H	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			15	2089	-	Colorectal(261;0.0847)		558					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1673G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595073	0.86953	.	.	ENSG00000123104	ENST00000381340	D	0.96396	-4.0	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99376	1.0921	10	0.72032	D	0.01	.	18.2276	0.89923	0.0:1.0:0.0:0.0	.	558	Q14571	ITPR2_HUMAN	H	558	ENSP00000370744:R558H	ENSP00000370744:R558H	R	-	2	0	ITPR2	26707925	1.000000	0.71417	0.957000	0.39632	0.491000	0.33493	7.638000	0.83328	2.596000	0.87737	0.655000	0.94253	CGC		0.478	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		9	360	0	0	0	1	0	9	360				
TRAF5	7188	broad.mit.edu	37	1	211533282	211533282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211533282C>T	ENST00000261464.5	+	5	461	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TRAF5_ENST00000336184.2_Missense_Mutation_p.P136L|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.P136L|TRAF5_ENST00000427925.2_Intron	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	136					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTCAACCTGTGCAGTGT	0.498																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(406-408)cCt>cTt		TNF receptor-associated factor 5							134.0	128.0	130.0					1																	211533282		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211533282C>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.407C>T	1.37:g.211533282C>T	ENSP00000261464:p.Pro136Leu					TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.P136L|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Missense_Mutation_p.P136L	p.P136L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	5	461	+			136					B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.407C>T	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915700	0.17907	.	.	ENSG00000082512	ENST00000336184;ENST00000261464;ENST00000367004	T;T;T	0.29142	1.58;1.58;1.58	4.97	4.02	0.46733	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);	1.299470	0.04796	N	0.432619	T	0.22437	0.0541	N	0.25957	0.775	0.09310	N	0.999998	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.005	T	0.26849	-1.0091	10	0.20519	T	0.43	-16.2527	5.3826	0.16199	0.0:0.5709:0.2262:0.2029	.	147;136	B4E0A2;O00463	.;TRAF5_HUMAN	L	136	ENSP00000336825:P136L;ENSP00000261464:P136L;ENSP00000355971:P136L	ENSP00000261464:P136L	P	+	2	0	TRAF5	209599905	0.102000	0.21896	0.080000	0.20451	0.947000	0.59692	1.620000	0.36976	1.001000	0.39076	0.591000	0.81541	CCT		0.498	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		24	55	0	0	0	1	0	24	55				
EPHA4	2043	broad.mit.edu	37	2	222294740	222294740	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222294740G>A	ENST00000281821.2	-	15	2669	c.2628C>T	c.(2626-2628)aaC>aaT	p.N876N	EPHA4_ENST00000392071.4_Silent_p.N825N|EPHA4_ENST00000409938.1_Silent_p.N876N|EPHA4_ENST00000409854.1_Silent_p.N876N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	876	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCAACATGTTGACAATCT	0.522																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2626-2628)aaC>aaT		EPH receptor A4							179.0	173.0	175.0					2																	222294740		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294740G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2628C>T	2.37:g.222294740G>A						EPHA4_ENST00000392071.4_Silent_p.N825N|EPHA4_ENST00000409854.1_Silent_p.N876N|EPHA4_ENST00000409938.1_Silent_p.N876N	p.N876N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2669	-		Renal(207;0.0183)	876			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.2628C>T	CCDS2447.1																																																																																				0.522	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			9	111	0	0	0	1	0	9	111				
SIRPB1	10326	broad.mit.edu	37	20	1559045	1559045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:1559045C>A	ENST00000381605.4	-	2	436	c.372G>T	c.(370-372)cgG>cgT	p.R124R	SIRPB1_ENST00000262929.5_Silent_p.R123R|SIRPB1_ENST00000381603.3_Silent_p.R124R|RP4-576H24.4_ENST00000564763.1_Silent_p.R124R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	124	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCTCCCTTTCCGGAACTTCA	0.547																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(370-372)cgG>cgT		signal-regulatory protein beta 1							172.0	150.0	158.0					20																	1559045		2200	4253	6453	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559045C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.372G>T	20.37:g.1559045C>A						SIRPB1_ENST00000262929.5_Silent_p.R123R|RP4-576H24.4_ENST00000564763.1_Silent_p.R124R|SIRPB1_ENST00000381603.3_Silent_p.R124R	p.R124R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	436	-			124			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.372G>T	CCDS13019.1																																																																																				0.547	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		40	77	1	0	1.68508e-10	1	2.07758e-10	40	77				
EVC	2121	broad.mit.edu	37	4	5721083	5721083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5721083G>A	ENST00000264956.6	+	2	467	c.283G>A	c.(283-285)Gac>Aac	p.D95N	EVC_ENST00000382674.2_Missense_Mutation_p.D95N|EVC_ENST00000509451.1_Missense_Mutation_p.D95N	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	95					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GATGTCGAAGGACAAGGAAGC	0.512																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(283-285)Gac>Aac		Ellis van Creveld syndrome							249.0	240.0	243.0					4																	5721083		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5721083G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.283G>A	4.37:g.5721083G>A	ENSP00000264956:p.Asp95Asn					EVC_ENST00000509451.1_Missense_Mutation_p.D95N|EVC_ENST00000264956.6_Missense_Mutation_p.D95N	p.D95N			P57679	EVC_HUMAN			2	467	+		Myeloproliferative disorder(84;0.117)	95						Missense_Mutation	SNP	ENST00000264956.6	37	c.283G>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917650	0.52546	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.57595	0.39;0.39;0.49	3.42	3.42	0.39159	.	0.721275	0.12919	N	0.428294	T	0.60051	0.2239	L	0.51422	1.61	0.09310	N	1	D	0.67145	0.996	P	0.57620	0.824	T	0.49995	-0.8879	10	0.72032	D	0.01	.	10.5262	0.44950	0.0:0.0:1.0:0.0	.	95	P57679	EVC_HUMAN	N	95	ENSP00000264956:D95N;ENSP00000372120:D95N;ENSP00000426774:D95N	ENSP00000264956:D95N	D	+	1	0	EVC	5771984	0.184000	0.23200	0.055000	0.19348	0.026000	0.11368	3.160000	0.50739	1.892000	0.54788	0.563000	0.77884	GAC		0.512	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			21	57	0	0	0	1	0	21	57				
HRNR	388697	broad.mit.edu	37	1	152187633	152187633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152187633G>A	ENST00000368801.2	-	3	6547	c.6472C>T	c.(6472-6474)Cgc>Tgc	p.R2158C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6472-6474)Cgc>Tgc		hornerin							344.0	387.0	373.0					1																	152187633		2199	4280	6479	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187633G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6472C>T	1.37:g.152187633G>A	ENSP00000357791:p.Arg2158Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2158C	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6547	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2158					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6472C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	12.64	1.997988	0.35226	.	.	ENSG00000197915	ENST00000368801	T	0.02787	4.16	3.54	-4.02	0.04034	.	.	.	.	.	T	0.00580	0.0019	L	0.29908	0.895	0.09310	N	1	P	0.36587	0.559	B	0.10450	0.005	T	0.45542	-0.9254	9	0.56958	D	0.05	.	6.7913	0.23701	0.0:0.4926:0.1584:0.349	.	2158	Q86YZ3	HORN_HUMAN	C	2158	ENSP00000357791:R2158C	ENSP00000357791:R2158C	R	-	1	0	HRNR	150454257	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.367000	0.01078	-0.998000	0.03446	-2.058000	0.00401	CGC		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		55	1794	0	0	0	1	0	55	1794				
NCOA6	23054	broad.mit.edu	37	20	33337721	33337721	+	Silent	SNP	C	C	T	rs149855221	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33337721C>T	ENST00000374796.2	-	10	4847	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	NCOA6_ENST00000359003.2_Silent_p.T759T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	759	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACATCTGTCCCGTAAACTGCA	0.542																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2275-2277)acG>acA		nuclear receptor coactivator 6		C	,	1,4405	2.1+/-5.4	0,1,2202	98.0	85.0	89.0		2277,2277	-4.5	0.9	20	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	NCOA6	NM_001242539.1,NM_014071.3	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	759/1071,759/2064	33337721	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337721C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2277G>A	20.37:g.33337721C>T						NCOA6_ENST00000359003.2_Silent_p.T759T	p.T759T			Q14686	NCOA6_HUMAN			10	4847	-			759			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.2277G>A	CCDS13241.1																																																																																				0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		23	28	0	0	0	1	0	23	28				
NLRP2	55655	broad.mit.edu	37	19	55508792	55508792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55508792C>A	ENST00000543010.1	+	12	3130	c.2987C>A	c.(2986-2988)tCt>tAt	p.S996Y	NLRP2_ENST00000391721.4_Missense_Mutation_p.S972Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.S996Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.S974Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.S974Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.S993Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.S973Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.S972Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	996					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCCTTGGGGTCTAGTGGAGTG	0.537																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2986-2988)tCt>tAt		NLR family, pyrin domain containing 2							205.0	186.0	192.0					19																	55508792		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55508792C>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2987C>A	19.37:g.55508792C>A	ENSP00000445135:p.Ser996Tyr					NLRP2_ENST00000391721.4_Missense_Mutation_p.S972Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.S973Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.S972Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.S993Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.S974Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.S996Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.S974Y	p.S996Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	12	3130	+			996					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2987C>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.263156	0.00262	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	2.96	-3.35	0.04928	.	.	.	.	.	T	0.13243	0.0321	N	0.00760	-1.21	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.01;0.004;0.007;0.006;0.01	T	0.21759	-1.0236	9	0.17369	T	0.5	.	3.9273	0.09269	0.4369:0.2948:0.0:0.2683	.	973;974;993;972;996	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Y	996;972;974;996;974;973;972;993	ENSP00000445135:S996Y;ENSP00000375601:S972Y;ENSP00000344074:S974Y;ENSP00000409370:S996Y;ENSP00000440601:S974Y;ENSP00000402474:S973Y;ENSP00000441133:S972Y;ENSP00000263437:S993Y	ENSP00000263437:S993Y	S	+	2	0	NLRP2	60200604	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.068000	0.11561	-0.996000	0.03455	-1.272000	0.01410	TCT		0.537	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		51	68	1	0	3.50607e-19	1	4.58539e-19	51	68				
TRPM6	140803	broad.mit.edu	37	9	77457137	77457137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77457137G>A	ENST00000360774.1	-	4	512	c.275C>T	c.(274-276)aCa>aTa	p.T92I	TRPM6_ENST00000376871.3_Missense_Mutation_p.T92I|TRPM6_ENST00000359047.2_Missense_Mutation_p.T92I|TRPM6_ENST00000449912.2_Missense_Mutation_p.T87I|TRPM6_ENST00000451710.3_Missense_Mutation_p.T92I|TRPM6_ENST00000361255.3_Missense_Mutation_p.T87I|TRPM6_ENST00000376872.3_Missense_Mutation_p.T92I|TRPM6_ENST00000376864.4_Missense_Mutation_p.T92I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	92					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAAGTATCTGTTGGGCTTTT	0.418																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(274-276)aCa>aTa		transient receptor potential cation channel, subfamily M, member 6							200.0	188.0	192.0					9																	77457137		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77457137G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.275C>T	9.37:g.77457137G>A	ENSP00000354006:p.Thr92Ile					TRPM6_ENST00000359047.2_Missense_Mutation_p.T92I|TRPM6_ENST00000376871.3_Missense_Mutation_p.T92I|TRPM6_ENST00000376872.3_Missense_Mutation_p.T92I|TRPM6_ENST00000361255.3_Missense_Mutation_p.T87I|TRPM6_ENST00000376864.4_Missense_Mutation_p.T92I|TRPM6_ENST00000449912.2_Missense_Mutation_p.T87I|TRPM6_ENST00000360774.1_Missense_Mutation_p.T92I	p.T92I			Q9BX84	TRPM6_HUMAN			4	512	-			92					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.275C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424217	0.62733	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.70282	-0.11;-0.11;-0.47;-0.47;-0.11;-0.11;-0.11;-0.47	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	M	0.88906	2.99	0.58432	D	0.999995	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;0.989;0.929;0.978	D;D;D;D;P;D	0.76575	0.988;0.988;0.988;0.947;0.764;0.971	D	0.88914	0.3361	10	0.87932	D	0	.	20.0377	0.97569	0.0:0.0:1.0:0.0	.	92;92;92;92;92;87	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	I	92;92;92;92;87;87;91;92;92	ENSP00000354006:T92I;ENSP00000407341:T92I;ENSP00000366068:T92I;ENSP00000366067:T92I;ENSP00000396672:T87I;ENSP00000354962:T87I;ENSP00000366060:T92I;ENSP00000351942:T92I	ENSP00000351942:T92I	T	-	2	0	TRPM6	76646957	1.000000	0.71417	0.999000	0.59377	0.047000	0.14425	7.581000	0.82535	2.727000	0.93392	0.643000	0.83706	ACA		0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		10	101	0	0	0	1	0	10	101				
HERC1	8925	broad.mit.edu	37	15	63922785	63922785	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63922785C>T	ENST00000443617.2	-	69	12933	c.12846G>A	c.(12844-12846)ccG>ccA	p.P4282P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4282					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P4282P(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGATTTGTTGCGGTCGATTGT	0.473																																						ENST00000443617.2																			1	Substitution - coding silent(1)	p.P4282P(1)	lung(1)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(12844-12846)ccG>ccA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							132.0	133.0	133.0					15																	63922785		1966	4152	6118	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63922785C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12846G>A	15.37:g.63922785C>T							p.P4282P	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			69	12933	-			4282					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.12846G>A	CCDS45277.1																																																																																				0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		45	55	0	0	0	1	0	45	55				
ACTL7B	10880	broad.mit.edu	37	9	111617274	111617274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617274G>A	ENST00000374667.3	-	1	1965	c.937C>T	c.(937-939)Ccg>Tcg	p.P313S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	313						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGGAGGCCCGGCTGGGTGCTG	0.662																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(937-939)Ccg>Tcg		actin-like 7B							33.0	41.0	38.0					9																	111617274		2195	4289	6484	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617274G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.937C>T	9.37:g.111617274G>A	ENSP00000363799:p.Pro313Ser						p.P313S	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1965	-			313					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.937C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	1.299	-0.605345	0.03717	.	.	ENSG00000148156	ENST00000374667	D	0.94092	-3.35	5.24	5.24	0.73138	.	0.206143	0.24511	N	0.037899	D	0.89276	0.6669	L	0.35542	1.07	0.09310	N	1	B	0.30563	0.285	B	0.31946	0.138	D	0.84150	0.0422	10	0.87932	D	0	.	12.1172	0.53872	0.0:0.1729:0.8271:0.0	.	313	Q9Y614	ACL7B_HUMAN	S	313	ENSP00000363799:P313S	ENSP00000363799:P313S	P	-	1	0	ACTL7B	110657095	0.122000	0.22280	0.724000	0.30704	0.720000	0.41350	2.775000	0.47702	2.449000	0.82847	0.561000	0.74099	CCG		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		5	58	0	0	0	1	0	5	58				
GRIA3	2892	broad.mit.edu	37	X	122536867	122536867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122536867G>A	ENST00000371251.1	+	8	1155	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	GRIA3_ENST00000542149.1_Missense_Mutation_p.G368E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G368E|GRIA3_ENST00000264357.5_Missense_Mutation_p.G368E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G352E			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	368					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGAATGACTGGAAATATTCAA	0.373																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1102-1104)gGa>gAa		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						154.0	153.0	153.0					X																	122536867		2203	4299	6502	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122536867G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1103G>A	X.37:g.122536867G>A	ENSP00000360297:p.Gly368Glu					GRIA3_ENST00000542149.1_Missense_Mutation_p.G368E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G368E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G352E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G368E	p.G368E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			8	1395	+			368					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1103G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686662	0.88639	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77867	-0.2428	10	0.87932	D	0	.	17.3778	0.87397	0.0:0.0:1.0:0.0	.	352;368;368	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	E	368;368;368;368;352	ENSP00000264357:G368E;ENSP00000446146:G368E;ENSP00000360302:G368E;ENSP00000360297:G368E;ENSP00000446440:G352E	ENSP00000264357:G368E	G	+	2	0	GRIA3	122364548	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.317000	0.78254	0.594000	0.82650	GGA		0.373	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		85	178	0	0	0	1	0	85	178				
LAMA5	3911	broad.mit.edu	37	20	60887095	60887095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887095G>T	ENST00000252999.3	-	70	9582	c.9516C>A	c.(9514-9516)tgC>tgA	p.C3172*	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3172	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGACACCTGGCATAGCCCAT	0.662																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9514-9516)tgC>tgA		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						44.0	47.0	46.0					20																	60887095		2201	4296	6497	SO:0001587	stop_gained	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887095G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9516C>A	20.37:g.60887095G>T	ENSP00000252999:p.Cys3172*						p.C3172*	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		70	9582	-	Breast(26;1.57e-08)		3172			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	37	c.9516C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	39	7.299644	0.98196	.	.	ENSG00000130702	ENST00000252999	.	.	.	4.1	2.15	0.27550	.	0.319246	0.38492	N	0.001673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.1614	0.25667	0.2824:0.0:0.7176:0.0	.	.	.	.	X	3172	.	ENSP00000252999:C3172X	C	-	3	2	LAMA5	60320490	1.000000	0.71417	0.917000	0.36280	0.350000	0.29205	1.455000	0.35190	0.394000	0.25230	0.556000	0.70494	TGC		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	45	1	0	0.014758	1	0.0152625	4	45				
CCDC24	149473	broad.mit.edu	37	1	44458013	44458013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44458013C>T	ENST00000372318.3	+	3	427	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	CCDC24_ENST00000479055.1_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	86										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCAGGAGCTCCGGCAGTTGCT	0.647																																						ENST00000372318.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(256-258)Cgg>Tgg		coiled-coil domain containing 24							65.0	75.0	71.0					1																	44458013		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44458013C>T		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.256C>T	1.37:g.44458013C>T	ENSP00000361392:p.Arg86Trp					CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	p.R86W	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN			3	427	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	86					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.256C>T	CCDS507.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020531	0.75275	.	.	ENSG00000159214	ENST00000372318	.	.	.	4.96	-0.618	0.11576	.	0.912328	0.09154	N	0.841166	T	0.49949	0.1587	M	0.66939	2.045	0.80722	D	1	B;B;B	0.21688	0.059;0.059;0.059	B;B;B	0.19946	0.027;0.027;0.027	T	0.53151	-0.8479	9	0.72032	D	0.01	-11.131	2.9999	0.06010	0.3116:0.346:0.0:0.3423	.	50;42;86	Q8N4L8-2;Q05BG8;Q8N4L8	.;.;CCD24_HUMAN	W	86	.	ENSP00000361392:R86W	R	+	1	2	CCDC24	44230600	0.784000	0.28713	0.998000	0.56505	0.856000	0.48823	-0.286000	0.08399	0.134000	0.18681	0.313000	0.20887	CGG		0.647	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		36	60	0	0	0	1	0	36	60				
SLC5A3	6526	broad.mit.edu	37	21	35468499	35468499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468499G>T	ENST00000381151.3	+	2	1514	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	SLC5A3_ENST00000608209.1_Missense_Mutation_p.E334D|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	334					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCAACCCAGAGCACTGCATGC	0.483																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1000-1002)gaG>gaT		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							100.0	101.0	101.0					21																	35468499		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468499G>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1002G>T	21.37:g.35468499G>T	ENSP00000370543:p.Glu334Asp					MRPS6_ENST00000399312.2_Intron	p.E334D	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1514	+			334					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1002G>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220774	0.22457	.	.	ENSG00000198743	ENST00000381151	D	0.86694	-2.16	5.48	3.02	0.34903	.	0.000000	0.85682	D	0.000000	D	0.83234	0.5210	L	0.46614	1.455	0.40930	D	0.984382	B	0.31611	0.331	B	0.40038	0.317	T	0.74503	-0.3644	10	0.25106	T	0.35	.	8.229	0.31587	0.3189:0.0:0.6811:0.0	.	334	P53794	SC5A3_HUMAN	D	334	ENSP00000370543:E334D	ENSP00000370543:E334D	E	+	3	2	SLC5A3	34390369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.219000	0.51200	0.362000	0.24319	0.655000	0.94253	GAG		0.483	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			61	58	1	0	7.50695e-29	1	1.00363e-28	61	58				
DHX30	22907	broad.mit.edu	37	3	47888408	47888408	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888408T>C	ENST00000445061.1	+	11	2253	c.1846T>C	c.(1846-1848)Tac>Cac	p.Y616H	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.Y588H|DHX30_ENST00000446256.2_Missense_Mutation_p.Y577H|DHX30_ENST00000457607.1_Missense_Mutation_p.Y644H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	616						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGCTTCATGTACCCAGTCAA	0.617																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1729-1731)Tac>Cac		DEAH (Asp-Glu-Ala-His) box helicase 30							46.0	41.0	43.0					3																	47888408		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888408T>C	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1846T>C	3.37:g.47888408T>C	ENSP00000405620:p.Tyr616His					DHX30_ENST00000445061.1_Missense_Mutation_p.Y616H|DHX30_ENST00000348968.4_Missense_Mutation_p.Y588H|DHX30_ENST00000457607.1_Missense_Mutation_p.Y644H	p.Y577H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	2301	+			616			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1729T>C	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870360	0.33069	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.6	4.6	0.57074	DEAD-like helicase (1);	0.062034	0.64402	D	0.000003	T	0.20941	0.0504	N	0.21194	0.64	0.54753	D	0.999983	B;B	0.26318	0.115;0.146	B;B	0.34038	0.039;0.174	T	0.06643	-1.0815	10	0.38643	T	0.18	.	13.1817	0.59657	0.0:0.0:0.0:1.0	.	616;577	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	577;616;588;644	ENSP00000392601:Y577H;ENSP00000405620:Y616H;ENSP00000343442:Y588H;ENSP00000394682:Y644H	ENSP00000343442:Y588H	Y	+	1	0	DHX30	47863412	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	3.994000	0.56994	1.713000	0.51359	0.379000	0.24179	TAC		0.617	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		12	13	0	0	0	1	0	12	13				
MRPL15	29088	broad.mit.edu	37	8	55055240	55055240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55055240G>A	ENST00000260102.4	+	4	521	c.447G>A	c.(445-447)acG>acA	p.T149T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	149					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACACCTTTACGGCAAAAGTTA	0.368																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(445-447)acG>acA		mitochondrial ribosomal protein L15							91.0	84.0	86.0					8																	55055240		2203	4300	6503	SO:0001819	synonymous_variant	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55055240G>A	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.447G>A	8.37:g.55055240G>A							p.T149T	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		4	521	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	149					Q96Q54|Q9H0Y1	Silent	SNP	ENST00000260102.4	37	c.447G>A	CCDS6158.1																																																																																				0.368	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		23	30	0	0	0	1	0	23	30				
CASZ1	54897	broad.mit.edu	37	1	10714227	10714227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10714227C>A	ENST00000377022.3	-	11	2204	c.1887G>T	c.(1885-1887)aaG>aaT	p.K629N	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.K629N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	629					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCTCTTGTGCTTCTCGATGT	0.557																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1885-1887)aaG>aaT		castor zinc finger 1							140.0	132.0	135.0					1																	10714227		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714227C>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1887G>T	1.37:g.10714227C>A	ENSP00000366221:p.Lys629Asn					CASZ1_ENST00000344008.5_Missense_Mutation_p.K629N|RP4-734G22.3_ENST00000606802.1_RNA	p.K629N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2204	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	629					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1887G>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972804	0.92919	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.132994	0.64402	D	0.000002	T	0.79221	0.4409	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.83275	0.956;0.982;0.996	T	0.81342	-0.0976	9	0.72032	D	0.01	-30.0966	18.842	0.92188	0.0:1.0:0.0:0.0	.	653;629;629	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	N	629	.	ENSP00000339445:K629N	K	-	3	2	CASZ1	10636814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.654000	0.67974	2.619000	0.88677	0.561000	0.74099	AAG		0.557	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	57	1	0	3.59834e-05	1	4.01776e-05	5	57				
WHSC1L1	54904	broad.mit.edu	37	8	38173513	38173513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38173513G>A	ENST00000317025.8	-	10	2420	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R635C|WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R635C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTGAGGCGCGACTCCTTTTC	0.403			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1903-1905)Cgc>Tgc		Wolf-Hirschhorn syndrome candidate 1-like 1							131.0	126.0	127.0					8																	38173513		2056	4207	6263	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38173513G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1903C>T	8.37:g.38173513G>A	ENSP00000313983:p.Arg635Cys					WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R635C|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R635C	p.R635C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		10	2420	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	635					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1903C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224388	0.79576	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95137	-3.62;-3.62;-3.62	5.85	5.85	0.93711	.	0.184982	0.25795	U	0.028259	D	0.97043	0.9034	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.97032	0.9751	10	0.72032	D	0.01	.	20.1632	0.98142	0.0:0.0:1.0:0.0	.	635;635;635	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	C	635;635;572;635	ENSP00000393284:R635C;ENSP00000313983:R635C;ENSP00000434730:R635C	ENSP00000313983:R635C	R	-	1	0	WHSC1L1	38292670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.770000	0.68873	2.772000	0.95346	0.650000	0.86243	CGC		0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		26	47	0	0	0	1	0	26	47				
TM6SF1	53346	broad.mit.edu	37	15	83784642	83784642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83784642G>A	ENST00000322019.9	+	3	516	c.242G>A	c.(241-243)gGa>gAa	p.G81E	TM6SF1_ENST00000564988.1_3'UTR|RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000379390.6_Missense_Mutation_p.G81E|TM6SF1_ENST00000379386.4_Missense_Mutation_p.G81E|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G81E			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	81						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCATCATAGGACTGGAGCAA	0.423																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(241-243)gGa>gAa		transmembrane 6 superfamily member 1							172.0	145.0	154.0					15																	83784642		2203	4300	6503	SO:0001583	missense	53346					integral to membrane		g.chr15:83784642G>A	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.242G>A	15.37:g.83784642G>A	ENSP00000317000:p.Gly81Glu					TM6SF1_ENST00000379386.4_Missense_Mutation_p.G81E|TM6SF1_ENST00000379390.6_Missense_Mutation_p.G81E|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G81E|TM6SF1_ENST00000564988.1_3'UTR	p.G81E			Q9BZW5	TM6S1_HUMAN			3	516	+			81					A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.242G>A	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111228	0.77210	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.09	4.16	0.48862	.	0.104474	0.64402	D	0.000004	T	0.51415	0.1673	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.943;0.999	T	0.54695	-0.8255	10	0.72032	D	0.01	-8.7578	14.5102	0.67780	0.0:0.1481:0.8519:0.0	.	81;81;81	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	E	81	ENSP00000317000:G81E;ENSP00000368696:G81E;ENSP00000368693:G81E;ENSP00000368700:G81E;ENSP00000258909:G81E	ENSP00000258909:G81E	G	+	2	0	TM6SF1	81575646	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	4.531000	0.60602	1.127000	0.42034	0.561000	0.74099	GGA		0.423	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		12	20	0	0	0	1	0	12	20				
KIAA1109	84162	broad.mit.edu	37	4	123252487	123252487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123252487G>A	ENST00000264501.4	+	67	11629	c.11256G>A	c.(11254-11256)acG>acA	p.T3752T	KIAA1109_ENST00000388738.3_Silent_p.T3752T			Q2LD37	K1109_HUMAN	KIAA1109	3752					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGACATACGTCTCGTAAAA	0.378																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(11254-11256)acG>acA		KIAA1109							41.0	39.0	39.0					4																	123252487		1861	4097	5958	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123252487G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11256G>A	4.37:g.123252487G>A						KIAA1109_ENST00000388738.3_Silent_p.T3752T	p.T3752T			Q2LD37	K1109_HUMAN			67	11629	+			3752					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.11256G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	0.280	-0.986761	0.02180	.	.	ENSG00000138688	ENST00000306802	.	.	.	5.73	-8.2	0.01045	.	.	.	.	.	T	0.34454	0.0898	.	.	.	0.47547	D	0.99945	.	.	.	.	.	.	T	0.39702	-0.9601	4	.	.	.	.	2.116	0.03713	0.1708:0.3859:0.2179:0.2254	.	.	.	.	H	163	.	.	R	+	2	0	KIAA1109	123471937	0.001000	0.12720	0.716000	0.30569	0.142000	0.21351	-1.015000	0.03637	-1.560000	0.01686	-2.070000	0.00385	CGT		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		8	17	0	0	0	1	0	8	17				
ZNF441	126068	broad.mit.edu	37	19	11892634	11892634	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11892634C>T	ENST00000357901.4	+	4	2097	c.1995C>T	c.(1993-1995)caC>caT	p.H665H	ZNF441_ENST00000454339.2_Silent_p.H598H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAGGACCCACAGTATGGAGA	0.393																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1993-1995)caC>caT		zinc finger protein 441							68.0	73.0	72.0					19																	11892634		2203	4300	6503	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892634C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1995C>T	19.37:g.11892634C>T						ZNF441_ENST00000454339.2_Silent_p.H598H	p.H665H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	2097	+			665						Silent	SNP	ENST00000357901.4	37	c.1995C>T	CCDS12266.2																																																																																				0.393	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		9	27	0	0	0	1	0	9	27				
DNAH8	1769	broad.mit.edu	37	6	38905958	38905958	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905958G>A	ENST00000359357.3	+	76	11375	c.11121G>A	c.(11119-11121)acG>acA	p.T3707T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.T3924T|DNAH8_ENST00000441566.1_Silent_p.T3671T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3707					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTATCAGACGTCATTGGCCC	0.502																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11119-11121)acG>acA		dynein, axonemal, heavy chain 8							139.0	115.0	123.0					6																	38905958		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38905958G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11121G>A	6.37:g.38905958G>A						DNAH8_ENST00000441566.1_Silent_p.T3671T|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.T3924T	p.T3707T							76	11375	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.11121G>A																																																																																					0.502	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		36	53	0	0	0	1	0	36	53				
TMEM163	81615	broad.mit.edu	37	2	135215669	135215669	+	Missense_Mutation	SNP	G	G	A	rs372688245		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135215669G>A	ENST00000281924.6	-	7	807	c.743C>T	c.(742-744)gCg>gTg	p.A248V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	248						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTACCAGACCGCCGAGTCATG	0.542																																						ENST00000281924.6																			0				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16						c.(742-744)gCg>gTg		transmembrane protein 163		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	143.0	127.0	133.0		743	3.9	0.0	2		133	0,8600		0,0,4300	no	missense	TMEM163	NM_030923.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	248/290	135215669	1,13005	2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135215669G>A		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.743C>T	2.37:g.135215669G>A	ENSP00000281924:p.Ala248Val						p.A248V	NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	7	807	-			248					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.743C>T	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.141069	0.21205	2.27E-4	0.0	ENSG00000152128	ENST00000281924	T	0.62788	-0.0	4.79	3.88	0.44766	.	0.731204	0.13802	N	0.361738	T	0.41811	0.1175	N	0.08118	0	0.09310	N	1	B	0.23891	0.093	B	0.24006	0.05	T	0.36696	-0.9737	10	0.62326	D	0.03	.	9.2657	0.37639	0.0:0.1487:0.6725:0.1788	.	248	Q8TC26	TM163_HUMAN	V	248	ENSP00000281924:A248V	ENSP00000281924:A248V	A	-	2	0	TMEM163	134932139	0.002000	0.14202	0.027000	0.17364	0.399000	0.30720	1.267000	0.33050	0.940000	0.37473	0.484000	0.47621	GCG		0.542	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		35	49	0	0	0	1	0	35	49				
AZI2	64343	broad.mit.edu	37	3	28368334	28368334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28368334G>A	ENST00000479665.1	-	7	1286	c.755C>T	c.(754-756)gCa>gTa	p.A252V	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	252	Interaction with TBK1 and IKBKE.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTCTTGATTGCAGTTGAGGT	0.398																																						ENST00000479665.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(754-756)gCa>gTa		5-azacytidine induced 2							305.0	275.0	285.0					3																	28368334		2203	4300	6503	SO:0001583	missense	64343					mitochondrion|plasma membrane		g.chr3:28368334G>A	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.755C>T	3.37:g.28368334G>A	ENSP00000419371:p.Ala252Val					AZI2_ENST00000295748.3_5'UTR	p.A252V	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN			7	1286	-			252			Interaction with TBK1.		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	c.755C>T	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372127	0.42003	.	.	ENSG00000163512	ENST00000479665	.	.	.	5.92	5.03	0.67393	Tbk1/Ikki binding domain (1);	0.381500	0.28465	N	0.015260	T	0.66228	0.2768	M	0.62723	1.935	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.63207	-0.6689	9	0.48119	T	0.1	-8.7161	17.0272	0.86451	0.0:0.3225:0.6775:0.0	.	252	Q9H6S1	AZI2_HUMAN	V	252	.	ENSP00000419371:A252V	A	-	2	0	AZI2	28343338	0.954000	0.32549	0.682000	0.30024	0.979000	0.70002	3.685000	0.54678	1.466000	0.48025	0.650000	0.86243	GCA		0.398	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		35	71	0	0	0	1	0	35	71				
MASP1	5648	broad.mit.edu	37	3	186937930	186937930	+	Missense_Mutation	SNP	G	G	A	rs201340753		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186937930G>A	ENST00000337774.5	-	16	2418	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	677	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTCCGTAGCGGTCCTTCTTC	0.572											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17684	0.0		0.0	False		,,,				2504	0.0					ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(2029-2031)Cgc>Tgc		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)		G	CYS/ARG	0,4406		0,0,2203	144.0	127.0	133.0		2029	4.2	0.3	3		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	MASP1	NM_001879.5	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		677/700	186937930	1,13005	2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186937930G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.2029C>T	3.37:g.186937930G>A	ENSP00000336792:p.Arg677Cys		OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2011		p.R677C	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	16	2418	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		677			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.2029C>T	CCDS33907.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.36	3.606864	0.66558	0.0	1.16E-4	ENSG00000127241	ENST00000337774	D	0.89617	-2.54	6.13	4.2	0.49525	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90407	0.6997	L	0.59436	1.845	0.33614	D	0.603944	D	0.60575	0.988	P	0.61070	0.883	D	0.90950	0.4804	9	0.42905	T	0.14	.	6.6849	0.23140	0.0882:0.0:0.6347:0.2771	.	677	P48740	MASP1_HUMAN	C	677	ENSP00000336792:R677C	ENSP00000336792:R677C	R	-	1	0	MASP1	188420624	0.191000	0.23288	0.257000	0.24404	0.941000	0.58515	1.108000	0.31123	1.624000	0.50355	0.644000	0.83932	CGC		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		3	50	0	0	0	1	0	3	50				
SNX9	51429	broad.mit.edu	37	6	158330965	158330965	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158330965G>T	ENST00000392185.3	+	9	1028	c.857G>T	c.(856-858)aGg>aTg	p.R286M		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	286	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTAAACCACAGGTATAAGCAC	0.408																																						ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(856-858)aGg>aTg		sorting nexin 9							202.0	214.0	210.0					6																	158330965		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158330965G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.857G>T	6.37:g.158330965G>T	ENSP00000376024:p.Arg286Met						p.R286M	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	9	1028	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	286			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.857G>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043034	0.93685	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.55234	0.53	5.56	5.56	0.83823	Phox homologous domain (5);	0.147481	0.56097	D	0.000021	T	0.77758	0.4178	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83263	-0.0047	10	0.87932	D	0	-21.3633	19.8818	0.96901	0.0:0.0:1.0:0.0	.	286	Q9Y5X1	SNX9_HUMAN	M	286;286;86	ENSP00000376024:R286M	ENSP00000252631:R86M	R	+	2	0	SNX9	158250953	1.000000	0.71417	0.987000	0.45799	0.914000	0.54420	9.302000	0.96175	-0.306000	0.08818	-0.137000	0.14449	AGG		0.408	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			13	124	1	0	2.32078e-09	1	2.82054e-09	13	124				
MME	4311	broad.mit.edu	37	3	154859820	154859820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154859820C>T	ENST00000460393.1	+	11	1118	c.998C>T	c.(997-999)aCt>aTt	p.T333I	MME_ENST00000492661.1_Missense_Mutation_p.T333I|MME_ENST00000493237.1_Missense_Mutation_p.T333I|MME_ENST00000360490.2_Missense_Mutation_p.T333I|MME_ENST00000462745.1_Missense_Mutation_p.T333I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	333					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATCATGTCAACTGTGAATATT	0.363																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(997-999)aCt>aTt		membrane metallo-endopeptidase	Candoxatril(DB00616)						94.0	96.0	95.0					3																	154859820		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154859820C>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.998C>T	3.37:g.154859820C>T	ENSP00000418525:p.Thr333Ile					MME_ENST00000492661.1_Missense_Mutation_p.T333I|MME_ENST00000462745.1_Missense_Mutation_p.T333I|MME_ENST00000493237.1_Missense_Mutation_p.T333I|MME_ENST00000360490.2_Missense_Mutation_p.T333I	p.T333I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		11	1118	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	333					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.998C>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120798	0.56613	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	6.02	6.02	0.97574	Peptidase M13 (1);	0.101937	0.64402	D	0.000003	T	0.79718	0.4494	L	0.36672	1.1	0.48830	D	0.999715	P	0.36753	0.568	B	0.41036	0.346	T	0.79470	-0.1790	10	0.51188	T	0.08	-33.7259	14.6529	0.68811	0.0:0.931:0.0:0.069	.	333	P08473	NEP_HUMAN	I	333	ENSP00000420389:T333I;ENSP00000418525:T333I;ENSP00000419653:T333I;ENSP00000417079:T333I;ENSP00000353679:T333I	ENSP00000353679:T333I	T	+	2	0	MME	156342514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.911000	0.56378	2.859000	0.98148	0.591000	0.81541	ACT		0.363	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		40	69	0	0	0	1	0	40	69				
KCNIP4	80333	broad.mit.edu	37	4	20733666	20733666	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20733666A>G	ENST00000382152.2	-	8	835	c.668T>C	c.(667-669)gTt>gCt	p.V223A	KCNIP4_ENST00000359001.5_Missense_Mutation_p.V161A|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Missense_Mutation_p.V189A|KCNIP4_ENST00000509207.1_Missense_Mutation_p.V161A|KCNIP4_ENST00000382150.4_Missense_Mutation_p.V202A|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.V198A	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	223	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TATGGTAACAACCCCATCTTT	0.338																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(592-594)gTt>gCt		Kv channel interacting protein 4							180.0	167.0	172.0					4																	20733666		2201	4300	6501	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20733666A>G	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.668T>C	4.37:g.20733666A>G	ENSP00000371587:p.Val223Ala					PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.V202A|KCNIP4_ENST00000447367.2_Missense_Mutation_p.V189A|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382152.2_Missense_Mutation_p.V223A|KCNIP4_ENST00000359001.5_Missense_Mutation_p.V161A|KCNIP4_ENST00000509207.1_Missense_Mutation_p.V161A	p.V198A	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			7	929	-		Breast(46;0.134)	223					Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.593T>C	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518046	0.85495	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.994;0.996	D;D;D;D	0.76575	0.973;0.938;0.912;0.988	D	0.87197	0.2238	10	0.38643	T	0.18	.	15.0312	0.71708	1.0:0.0:0.0:0.0	.	198;202;206;223	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	A	198;189;202;161;223;161;161	ENSP00000371583:V198A;ENSP00000399080:V189A;ENSP00000371585:V202A;ENSP00000371587:V223A;ENSP00000423257:V161A;ENSP00000351892:V161A	ENSP00000351892:V161A	V	-	2	0	KCNIP4	20342764	1.000000	0.71417	0.867000	0.34043	0.968000	0.65278	9.033000	0.93741	2.029000	0.59856	0.533000	0.62120	GTT		0.338	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		5	49	0	0	0	1	0	5	49				
FGGY	55277	broad.mit.edu	37	1	60104028	60104028	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60104028A>C	ENST00000303721.7	+	11	1376	c.1202A>C	c.(1201-1203)gAt>gCt	p.D401A	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371218.4_Missense_Mutation_p.D401A|FGGY_ENST00000371210.1_Missense_Mutation_p.D102A|FGGY_ENST00000371212.1_Missense_Mutation_p.D313A	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	401					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CCCTTAGCAGATCTGACACTA	0.468																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1201-1203)gAt>gCt		FGGY carbohydrate kinase domain containing							147.0	136.0	140.0					1																	60104028		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60104028A>C		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1202A>C	1.37:g.60104028A>C	ENSP00000305922:p.Asp401Ala					FGGY_ENST00000371212.1_Missense_Mutation_p.D313A|FGGY_ENST00000371210.1_Missense_Mutation_p.D102A|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Missense_Mutation_p.D401A	p.D401A	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			11	1386	+	all_cancers(7;7.36e-05)		401					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.1202A>C	CCDS611.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056457	0.76074	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.38	5.38	0.77491	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	H	0.97214	3.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	D	0.97475	1.0043	9	.	.	.	-18.4406	15.566	0.76294	1.0:0.0:0.0:0.0	.	401;313;401;401	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	A	401;401;313;102	ENSP00000360262:D401A;ENSP00000305922:D401A;ENSP00000360256:D313A;ENSP00000360254:D102A	.	D	+	2	0	FGGY	59876616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.992000	0.76238	2.254000	0.74563	0.533000	0.62120	GAT		0.468	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		3	80	0	0	0	1	0	3	80				
GABBR2	9568	broad.mit.edu	37	9	101068592	101068592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101068592G>A	ENST00000259455.2	-	15	2499	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	680					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGATGCTGACGTTGCGGGTCT	0.547																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(2038-2040)aaC>aaT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						104.0	71.0	82.0					9																	101068592		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101068592G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2040C>T	9.37:g.101068592G>A							p.N680N	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			15	2499	-		Acute lymphoblastic leukemia(62;0.0527)	680					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.2040C>T	CCDS6736.1																																																																																				0.547	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			11	16	0	0	0	1	0	11	16				
PPP1R9A	55607	broad.mit.edu	37	7	94915620	94915620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915620G>T	ENST00000433881.1	+	13	3392	c.2860G>T	c.(2860-2862)Gca>Tca	p.A954S	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.A954S|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.A1160S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1238S			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	954	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGTCCTTAGCACTGTCATC	0.458										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(3478-3480)Gca>Tca		protein phosphatase 1, regulatory subunit 9A							86.0	72.0	77.0					7																	94915620		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94915620G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2860G>T	7.37:g.94915620G>T	ENSP00000398870:p.Ala954Ser	HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.A954S|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1238S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.A954S	p.A1160S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	3694	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		954					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.3478G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325791	0.41197	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14516	2.55;2.5;2.56;2.5;2.57;2.56	5.11	5.11	0.69529	.	0.784029	0.11995	N	0.509435	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B;B;P;P;B;B	0.42692	0.003;0.374;0.787;0.682;0.321;0.004	B;B;B;B;B;B	0.42771	0.005;0.191;0.397;0.321;0.133;0.002	T	0.28038	-1.0056	10	0.09084	T	0.74	.	19.1109	0.93315	0.0:0.0:1.0:0.0	.	954;1160;1238;1178;1178;954	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	S	1238;954;1178;954;1160;1178	ENSP00000405514:A1238S;ENSP00000344524:A954S;ENSP00000411342:A1178S;ENSP00000398870:A954S;ENSP00000289495:A1160S;ENSP00000402893:A1178S	ENSP00000289495:A1160S	A	+	1	0	PPP1R9A	94753556	1.000000	0.71417	0.034000	0.17996	0.232000	0.25224	3.829000	0.55760	2.827000	0.97445	0.655000	0.94253	GCA		0.458	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		13	32	1	0	6.81908e-15	1	8.72718e-15	13	32				
CTTNBP2	83992	broad.mit.edu	37	7	117424357	117424357	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117424357G>T	ENST00000160373.3	-	5	2311	c.2220C>A	c.(2218-2220)tcC>tcA	p.S740S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	740					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATCTTCACAGGAGTAATTAA	0.448																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2218-2220)tcC>tcA		cortactin binding protein 2							140.0	146.0	144.0					7																	117424357		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117424357G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2220C>A	7.37:g.117424357G>T							p.S740S	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	5	2311	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		740					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.2220C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008154	0.19199	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.45	4.57	0.56435	.	.	.	.	.	T	0.55768	0.1941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53989	-0.8360	4	.	.	.	-6.9113	6.2763	0.20983	0.1634:0.0:0.6864:0.1502	.	.	.	.	M	228	.	.	L	-	1	2	CTTNBP2	117211593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.169000	0.42434	1.427000	0.47276	0.655000	0.94253	CTG		0.448	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		59	165	1	0	7.59065e-32	1	1.01804e-31	59	165				
UBD	10537	broad.mit.edu	37	6	29523970	29523970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29523970C>T	ENST00000377050.4	-	2	408	c.185G>A	c.(184-186)aGc>aAc	p.S62N	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	62	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGATGAGAGGCTTCTCCGTGG	0.483																																						ENST00000377050.4																			0				kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(184-186)aGc>aAc		ubiquitin D							63.0	61.0	62.0					6																	29523970		1511	2709	4220	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29523970C>T	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.185G>A	6.37:g.29523970C>T	ENSP00000366249:p.Ser62Asn					GABBR1_ENST00000355973.3_3'UTR	p.S62N	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN			2	408	-			62			Ubiquitin 1.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.185G>A	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	5.276	0.236293	0.10023	.	.	ENSG00000213886	ENST00000377050	T	0.73789	-0.78	5.17	-10.3	0.00346	Ubiquitin supergroup (1);Ubiquitin (2);	7.424360	0.01540	U	0.019170	T	0.34542	0.0901	L	0.35644	1.08	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.31586	-0.9938	10	0.87932	D	0	0.4532	5.1074	0.14790	0.0747:0.1671:0.3865:0.3717	.	62	O15205	UBD_HUMAN	N	62	ENSP00000366249:S62N	ENSP00000366249:S62N	S	-	2	0	UBD	29631949	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.651000	0.00857	-3.841000	0.00100	-0.192000	0.12808	AGC		0.483	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			18	23	0	0	0	1	0	18	23				
TRDN	10345	broad.mit.edu	37	6	123673693	123673693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123673693C>T	ENST00000398178.3	-	21	1381	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	TRDN_ENST00000334268.4_Missense_Mutation_p.V454M	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	454					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCTTGCTCCACTGTCTTGGTT	0.398																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(1360-1362)Gtg>Atg		triadin							190.0	174.0	179.0					6																	123673693		1847	4095	5942	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123673693C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1360G>A	6.37:g.123673693C>T	ENSP00000381240:p.Val454Met					TRDN_ENST00000398178.3_Missense_Mutation_p.V454M	p.V454M			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	21	1677	-			454					A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1360G>A	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805036	0.70682	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.19105	2.17;2.18	5.65	5.65	0.86999	.	0.000000	0.45126	D	0.000398	T	0.23451	0.0567	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.996;0.996;0.998	P;P;D	0.65573	0.887;0.887;0.936	T	0.00992	-1.1488	10	0.42905	T	0.14	-4.3009	16.823	0.85923	0.0:1.0:0.0:0.0	.	454;455;454	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	M	454;456;454	ENSP00000381240:V454M;ENSP00000333984:V454M	ENSP00000333984:V454M	V	-	1	0	TRDN	123715392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.295000	0.59049	2.827000	0.97445	0.650000	0.86243	GTG		0.398	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	36	0	0	0	1	0	4	36				
RNF175	285533	broad.mit.edu	37	4	154649450	154649450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154649450G>A	ENST00000347063.4	-	4	682	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	RNF175_ENST00000506505.1_Intron|RP11-153M7.5_ENST00000505051.1_RNA|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	104						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GACAGAAACCGCCACCAGTAT	0.448																																						ENST00000347063.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13						c.(310-312)Cgg>Tgg		ring finger protein 175							120.0	121.0	120.0					4																	154649450		1886	4110	5996	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154649450G>A	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.310C>T	4.37:g.154649450G>A	ENSP00000340979:p.Arg104Trp					RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	p.R104W	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN			4	682	-	all_hematologic(180;0.093)	Renal(120;0.118)	104					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.310C>T	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000623	0.35320	.	.	ENSG00000145428	ENST00000347063;ENST00000508248	D;D	0.83075	-1.68;-1.68	4.69	0.00832	0.14074	.	0.066972	0.56097	D	0.000034	D	0.88937	0.6573	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84959	0.0876	10	0.87932	D	0	-12.9356	4.296	0.10901	0.24:0.0:0.4891:0.2709	.	104	Q8N4F7	RN175_HUMAN	W	104;44	ENSP00000340979:R104W;ENSP00000427472:R44W	ENSP00000340979:R104W	R	-	1	2	RNF175	154868900	0.019000	0.18553	0.996000	0.52242	0.955000	0.61496	-0.006000	0.12833	-0.048000	0.13401	-0.817000	0.03123	CGG		0.448	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		37	51	0	0	0	1	0	37	51				
NBPF3	84224	broad.mit.edu	37	1	21800061	21800061	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21800061C>T	ENST00000318249.5	+	7	1273	c.923C>T	c.(922-924)gCt>gTt	p.A308V	NBPF3_ENST00000318220.6_Missense_Mutation_p.A252V|NBPF3_ENST00000454000.2_Missense_Mutation_p.A238V|NBPF3_ENST00000342104.5_Missense_Mutation_p.A308V	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	308	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTTGGATGCTGTATGCATT	0.443																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(754-756)gCt>gTt		neuroblastoma breakpoint family, member 3							207.0	188.0	195.0					1																	21800061		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21800061C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.923C>T	1.37:g.21800061C>T	ENSP00000316782:p.Ala308Val					NBPF3_ENST00000342104.5_Missense_Mutation_p.A308V|NBPF3_ENST00000454000.2_Missense_Mutation_p.A238V|NBPF3_ENST00000318249.5_Missense_Mutation_p.A308V	p.A252V			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	1803	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	308			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.755C>T	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	3.549	-0.092048	0.07053	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.03635	3.86;4.14;4.13;4.16;4.14	0.566	-0.874	0.10631	DUF1220 (1);	.	.	.	.	T	0.05273	0.0140	M	0.74881	2.28	0.09310	N	1	B;P;P	0.46859	0.361;0.885;0.714	B;B;B	0.41374	0.134;0.355;0.213	T	0.27971	-1.0058	8	0.37606	T	0.19	.	.	.	.	.	238;308;308	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	V	238;252;308;252;308;252	ENSP00000415711:A238V;ENSP00000316739:A252V;ENSP00000316782:A308V;ENSP00000340336:A308V;ENSP00000391865:A252V	ENSP00000316739:A252V	A	+	2	0	NBPF3	21672648	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.203000	0.03019	-0.358000	0.08162	0.184000	0.17185	GCT		0.443	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		65	98	0	0	0	1	0	65	98				
USP28	57646	broad.mit.edu	37	11	113673911	113673911	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673911A>G	ENST00000003302.4	-	23	2899	c.2831T>C	c.(2830-2832)gTg>gCg	p.V944A	USP28_ENST00000260188.5_Missense_Mutation_p.V912A|USP28_ENST00000544967.1_Missense_Mutation_p.V620A|USP28_ENST00000545540.1_Missense_Mutation_p.V787A	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	944					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAAGCAATCACGGATTCTTT	0.463																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2830-2832)gTg>gCg		ubiquitin specific peptidase 28							68.0	75.0	72.0					11																	113673911		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113673911A>G	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2831T>C	11.37:g.113673911A>G	ENSP00000003302:p.Val944Ala					USP28_ENST00000260188.5_Missense_Mutation_p.V912A|USP28_ENST00000545540.1_Missense_Mutation_p.V787A|USP28_ENST00000544967.1_Missense_Mutation_p.V620A	p.V944A	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	23	2899	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	944					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2831T>C	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490264	0.64074	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.47177	1.43;1.44;0.85;1.44	5.28	5.28	0.74379	.	0.130270	0.50627	D	0.000106	T	0.39009	0.1062	N	0.14661	0.345	0.42331	D	0.992296	P;P;P	0.42556	0.677;0.552;0.783	B;B;P	0.44811	0.199;0.248;0.461	T	0.45848	-0.9233	10	0.72032	D	0.01	-19.6283	15.3783	0.74630	1.0:0.0:0.0:0.0	.	787;944;620	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	A	944;912;620;787	ENSP00000003302:V944A;ENSP00000260188:V912A;ENSP00000442431:V620A;ENSP00000444991:V787A	ENSP00000003302:V944A	V	-	2	0	USP28	113179121	1.000000	0.71417	0.979000	0.43373	0.743000	0.42351	8.352000	0.90075	2.227000	0.72691	0.460000	0.39030	GTG		0.463	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			8	98	0	0	0	1	0	8	98				
LPO	4025	broad.mit.edu	37	17	56342180	56342180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56342180G>T	ENST00000262290.4	+	10	1680	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I	LPO_ENST00000543544.1_Missense_Mutation_p.R396I|LPO_ENST00000582328.1_Missense_Mutation_p.R372I|LPO_ENST00000421678.2_Missense_Mutation_p.R372I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	455					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R455fs*66(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GTGGATCCCAGAATTTCCAAT	0.498																																						ENST00000262290.4																			1	Deletion - Frameshift(1)	p.R455fs*66(1)	stomach(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1363-1365)aGa>aTa		lactoperoxidase							118.0	110.0	113.0					17																	56342180		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56342180G>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1364G>T	17.37:g.56342180G>T	ENSP00000262290:p.Arg455Ile					LPO_ENST00000543544.1_Missense_Mutation_p.R396I|LPO_ENST00000421678.2_Missense_Mutation_p.R372I|LPO_ENST00000582328.1_Missense_Mutation_p.R372I	p.R455I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			10	1680	+			455					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1364G>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597744	0.66332	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.69435	-0.4;-0.4;-0.4	6.04	5.07	0.68467	.	0.106616	0.64402	D	0.000007	T	0.79793	0.4507	M	0.66439	2.03	0.80722	D	1	D;D	0.71674	0.959;0.998	P;D	0.68943	0.568;0.961	T	0.81258	-0.1014	10	0.52906	T	0.07	.	16.3652	0.83317	0.0:0.2474:0.7526:0.0	.	372;455	E7EMJ3;P22079	.;PERL_HUMAN	I	455;372;396;200	ENSP00000262290:R455I;ENSP00000400245:R372I;ENSP00000445344:R396I	ENSP00000262290:R455I	R	+	2	0	LPO	53697179	0.000000	0.05858	1.000000	0.80357	0.559000	0.35586	0.861000	0.27885	1.565000	0.49641	-0.264000	0.10439	AGA		0.498	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			5	41	1	0	0.000602214	1	0.000649039	5	41				
LRFN1	57622	broad.mit.edu	37	19	39805018	39805018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805018C>T	ENST00000248668.4	-	1	958	c.959G>A	c.(958-960)cGc>cAc	p.R320H	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	320	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCTCGGCAGCGCAGGCTCAC	0.741																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(958-960)cGc>cAc		leucine rich repeat and fibronectin type III domain containing 1							8.0	11.0	10.0					19																	39805018		2025	4148	6173	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805018C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.959G>A	19.37:g.39805018C>T	ENSP00000248668:p.Arg320His						p.R320H	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	958	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		320			Ig-like.		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.959G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482671	0.63962	.	.	ENSG00000128011	ENST00000248668	T	0.67698	-0.28	4.53	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	D	0.000539	T	0.66655	0.2811	N	0.26162	0.8	0.38689	D	0.952728	D	0.89917	1.0	D	0.77557	0.99	T	0.64236	-0.6455	10	0.23891	T	0.37	.	8.3951	0.32553	0.0:0.895:0.0:0.105	.	320	Q9P244	LRFN1_HUMAN	H	320	ENSP00000248668:R320H	ENSP00000248668:R320H	R	-	2	0	LRFN1	44496858	0.929000	0.31497	1.000000	0.80357	0.994000	0.84299	1.600000	0.36762	2.352000	0.79861	0.655000	0.94253	CGC		0.741	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		3	2	0	0	0	1	0	3	2				
ATP6V1E2	90423	broad.mit.edu	37	2	46739757	46739757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739757C>T	ENST00000306448.4	-	2	1207	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A32T	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	32					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGCCTTGGCATCGATTTCC	0.448																																						ENST00000306448.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(94-96)Gcc>Acc		ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2							156.0	145.0	149.0					2																	46739757		2203	4300	6503	SO:0001583	missense	90423				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	g.chr2:46739757C>T	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.94G>A	2.37:g.46739757C>T	ENSP00000304891:p.Ala32Thr					ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A32T	p.A32T	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	1207	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	32						Missense_Mutation	SNP	ENST00000306448.4	37	c.94G>A	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742323	0.69418	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.77103	2.36	0.80722	D	1	B	0.18610	0.029	B	0.26310	0.068	T	0.70353	-0.4895	9	0.66056	D	0.02	-11.7835	12.0934	0.53739	0.0:1.0:0.0:0.0	.	32	Q96A05	VATE2_HUMAN	T	32	.	ENSP00000304891:A32T	A	-	1	0	ATP6V1E2	46593261	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.479000	0.60236	2.549000	0.85964	0.655000	0.94253	GCC		0.448	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		39	51	0	0	0	1	0	39	51				
CD22	933	broad.mit.edu	37	19	35835805	35835805	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35835805C>A	ENST00000085219.5	+	10	2175	c.2109C>A	c.(2107-2109)atC>atA	p.I703I	CD22_ENST00000594250.1_Silent_p.I526I|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000536635.2_Silent_p.I615I|CD22_ENST00000544992.2_Silent_p.I703I|CD22_ENST00000419549.2_Silent_p.I531I|CD22_ENST00000270311.6_Silent_p.I583I|CD22_ENST00000341773.6_Silent_p.I526I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	703					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCTGGCAATCTGTGGGCTCA	0.617																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2107-2109)atC>atA		CD22 molecule	OspA lipoprotein(DB00045)						99.0	98.0	98.0					19																	35835805		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35835805C>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2109C>A	19.37:g.35835805C>A						CD22_ENST00000544992.2_Silent_p.I703I|CD22_ENST00000419549.2_Silent_p.I531I|CD22_ENST00000270311.6_Silent_p.I583I|CD22_ENST00000341773.6_Silent_p.I526I|CD22_ENST00000536635.2_Silent_p.I615I|CD22_ENST00000594250.1_Silent_p.I526I	p.I703I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		10	2175	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		703					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.2109C>A	CCDS12457.1																																																																																				0.617	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		70	68	1	0	5.00936e-31	1	6.71602e-31	70	68				
CNTN5	53942	broad.mit.edu	37	11	99827614	99827614	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:99827614G>T	ENST00000524871.1	+	8	1040	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CNTN5_ENST00000528682.1_Missense_Mutation_p.E250D|CNTN5_ENST00000527185.1_Missense_Mutation_p.E250D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E250D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E176D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	250	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTCCCAGGAGACAGGCAACC	0.428																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(748-750)gaG>gaT		contactin 5							85.0	82.0	83.0					11																	99827614		1868	4086	5954	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827614G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.750G>T	11.37:g.99827614G>T	ENSP00000435637:p.Glu250Asp					CNTN5_ENST00000527185.1_Missense_Mutation_p.E250D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E250D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E176D|CNTN5_ENST00000528682.1_Missense_Mutation_p.E250D	p.E250D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1040	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	250			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.750G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786083	0.31593	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.47	2.25	0.28309	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.284589	0.38837	N	0.001552	T	0.08891	0.0220	N	0.26042	0.785	0.41652	D	0.989138	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.15263	-1.0443	10	0.45353	T	0.12	.	7.6003	0.28073	0.0818:0.0:0.6307:0.2875	.	250;176;250	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	250;250;250;176;250	ENSP00000433575:E250D;ENSP00000436185:E250D;ENSP00000435637:E250D;ENSP00000393229:E176D;ENSP00000279463:E250D	ENSP00000279463:E250D	E	+	3	2	CNTN5	99332824	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.794000	0.38774	0.708000	0.31955	-0.238000	0.12139	GAG		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		24	48	1	0	6.32553e-13	1	7.99037e-13	24	48				
BCAR3	8412	broad.mit.edu	37	1	94048337	94048337	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048337G>T	ENST00000370244.1	-	9	1495	c.1207C>A	c.(1207-1209)Ccc>Acc	p.P403T	BCAR3_ENST00000539242.1_Missense_Mutation_p.P79T|BCAR3_ENST00000370247.3_Missense_Mutation_p.P312T|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.P403T|BCAR3_ENST00000370243.1_Missense_Mutation_p.P403T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	403					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTAGGCGGGGGCTTAGGGCAC	0.627																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(1207-1209)Ccc>Acc		breast cancer anti-estrogen resistance 3							63.0	60.0	61.0					1																	94048337		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94048337G>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1207C>A	1.37:g.94048337G>T	ENSP00000359264:p.Pro403Thr					BCAR3_ENST00000370247.3_Missense_Mutation_p.P312T|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.P403T|BCAR3_ENST00000370243.1_Missense_Mutation_p.P403T|BCAR3_ENST00000539242.1_Missense_Mutation_p.P79T	p.P403T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	9	1495	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	403					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.1207C>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646548	0.47258	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.75447	2.3	0.80722	D	1	D;P;D	0.89917	1.0;0.768;1.0	D;B;D	0.91635	0.999;0.418;0.997	T	0.63010	-0.6732	10	0.56958	D	0.05	-14.1835	17.7436	0.88413	0.0:0.0:1.0:0.0	.	183;403;312	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	T	312;403;403;403;79	ENSP00000359267:P312T;ENSP00000260502:P403T;ENSP00000359264:P403T;ENSP00000359263:P403T;ENSP00000441343:P79T	ENSP00000260502:P403T	P	-	1	0	BCAR3	93820925	1.000000	0.71417	0.942000	0.38095	0.064000	0.16182	4.989000	0.63870	2.485000	0.83878	0.655000	0.94253	CCC		0.627	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			18	54	1	0	6.33239e-15	1	8.10486e-15	18	54				
MYO6	4646	broad.mit.edu	37	6	76618317	76618317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76618317C>T	ENST00000369977.3	+	32	3524	c.3385C>T	c.(3385-3387)Cgt>Tgt	p.R1129C	MYO6_ENST00000369981.3_Missense_Mutation_p.R1139C|MYO6_ENST00000369975.1_Missense_Mutation_p.R1106C|MYO6_ENST00000369985.4_Missense_Mutation_p.R1106C	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1138					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AACAGAGCAACGTGCTCCAAA	0.343																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3415-3417)Cgt>Tgt		myosin VI							111.0	119.0	117.0					6																	76618317		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76618317C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3385C>T	6.37:g.76618317C>T	ENSP00000358994:p.Arg1129Cys					MYO6_ENST00000369975.1_Missense_Mutation_p.R1106C|MYO6_ENST00000369985.4_Missense_Mutation_p.R1106C|MYO6_ENST00000369977.3_Missense_Mutation_p.R1129C	p.R1139C			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	33	3694	+		all_hematologic(105;0.189)	1138					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3415C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537871	0.65085	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;T;T	0.92397	-3.03;-2.93;-1.14;1.96	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.96053	0.9033	10	0.87932	D	0	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1106;1129	Q9UM54-2;Q9UM54-1	.;.	C	1139;1139;1106;1129;1106	ENSP00000358998:R1139C;ENSP00000359002:R1106C;ENSP00000358994:R1129C;ENSP00000358992:R1106C	ENSP00000358992:R1106C	R	+	1	0	MYO6	76675037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	2.838000	0.97847	0.591000	0.81541	CGT		0.343	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		36	63	0	0	0	1	0	36	63				
PIK3C2A	5286	broad.mit.edu	37	11	17122851	17122851	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17122851T>G	ENST00000265970.7	-	24	3981	c.3982A>C	c.(3982-3984)Aac>Cac	p.N1328H	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N948H	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1328	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AGAAAAAGGTTTGTCTGCTTT	0.338																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3982-3984)Aac>Cac		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						119.0	123.0	122.0					11																	17122851		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17122851T>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3982A>C	11.37:g.17122851T>G	ENSP00000265970:p.Asn1328His					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N948H|PIK3C2A_ENST00000531428.1_Intron	p.N1328H	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			24	3981	-			1328			PI3K/PI4K.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.3982A>C	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122850	0.37436	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77098	-1.07;-1.07	5.27	5.27	0.74061	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.227351	0.52532	D	0.000066	T	0.76564	0.4005	L	0.43152	1.355	0.44789	D	0.997798	P	0.47484	0.896	P	0.52267	0.694	T	0.73360	-0.4007	10	0.25751	T	0.34	-13.141	10.6843	0.45833	0.0:0.0754:0.0:0.9246	.	1328	O00443	P3C2A_HUMAN	H	1328;948	ENSP00000265970:N1328H;ENSP00000438687:N948H	ENSP00000265970:N1328H	N	-	1	0	PIK3C2A	17079427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.208000	0.51114	2.115000	0.64714	0.455000	0.32223	AAC		0.338	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		5	99	0	0	0	1	0	5	99				
CDH17	1015	broad.mit.edu	37	8	95189855	95189855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95189855C>T	ENST00000027335.3	-	4	369	c.245G>A	c.(244-246)aGa>aAa	p.R82K	CDH17_ENST00000450165.2_Missense_Mutation_p.R82K|CDH17_ENST00000441892.2_Missense_Mutation_p.R82K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCCAAGGCTCTGTTGTAATA	0.463																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(244-246)aGa>aAa		cadherin 17, LI cadherin (liver-intestine)							204.0	194.0	197.0					8																	95189855		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95189855C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.245G>A	8.37:g.95189855C>T	ENSP00000027335:p.Arg82Lys					CDH17_ENST00000441892.2_Missense_Mutation_p.R82K|CDH17_ENST00000450165.2_Missense_Mutation_p.R82K	p.R82K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	369	-	Breast(36;4.65e-06)		82			Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.245G>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109453	0.06924	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.59906	0.23;4.69;0.23;0.91	5.96	-6.73	0.01749	Cadherin (4);Cadherin-like (1);	1.395580	0.04192	N	0.328429	T	0.31136	0.0787	N	0.03608	-0.345	0.09310	N	1	B;B	0.19445	0.036;0.001	B;B	0.20184	0.028;0.001	T	0.51973	-0.8637	10	0.02654	T	1	1.0665	16.7809	0.85563	0.0:0.3607:0.0:0.6393	.	82;82	E7EN24;Q12864	.;CAD17_HUMAN	K	82	ENSP00000027335:R82K;ENSP00000392811:R82K;ENSP00000401468:R82K;ENSP00000428189:R82K	ENSP00000027335:R82K	R	-	2	0	CDH17	95259031	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.752000	0.00791	-2.229000	0.00720	-1.264000	0.01445	AGA		0.463	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		41	52	0	0	0	1	0	41	52				
LTB4R	1241	broad.mit.edu	37	14	24785242	24785242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24785242C>T	ENST00000396789.4	+	2	2110	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	LTB4R_ENST00000396782.2_Missense_Mutation_p.R129C|LTB4R_ENST00000345363.3_Missense_Mutation_p.R129C	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	129					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCAGAAGCTACGCACCAAGGC	0.637																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(385-387)Cgc>Tgc		leukotriene B4 receptor							41.0	44.0	43.0					14																	24785242		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785242C>T	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.385C>T	14.37:g.24785242C>T	ENSP00000380008:p.Arg129Cys					LTB4R_ENST00000396782.2_Missense_Mutation_p.R129C|LTB4R_ENST00000345363.3_Missense_Mutation_p.R129C	p.R129C	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	2110	+			129					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.385C>T	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404087	0.62288	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.89	5.89	0.94794	GPCR, rhodopsin-like superfamily (1);	0.063953	0.64402	U	0.000011	T	0.72228	0.3434	M	0.90252	3.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.77357	-0.2618	10	0.87932	D	0	.	17.7302	0.88375	0.0:1.0:0.0:0.0	.	129	Q15722	LT4R1_HUMAN	C	129;129;29;129	ENSP00000307445:R129C;ENSP00000380008:R129C;ENSP00000451929:R29C;ENSP00000380002:R129C	ENSP00000307445:R129C	R	+	1	0	LTB4R	23855082	0.001000	0.12720	0.969000	0.41365	0.086000	0.17979	0.375000	0.20518	2.789000	0.95967	0.655000	0.94253	CGC		0.637	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			5	34	0	0	0	1	0	5	34				
UTRN	7402	broad.mit.edu	37	6	144844245	144844245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144844245G>T	ENST00000367545.3	+	40	5827	c.5827G>T	c.(5827-5829)Gcc>Tcc	p.A1943S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1943					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGGACCTGAAGCCATTCAGAT	0.383																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5827-5829)Gcc>Tcc		utrophin							90.0	84.0	86.0					6																	144844245		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144844245G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5827G>T	6.37:g.144844245G>T	ENSP00000356515:p.Ala1943Ser						p.A1943S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	40	5827	+		Ovarian(120;0.218)	1943					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5827G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411935	0.62511	.	.	ENSG00000152818	ENST00000367545	T	0.37058	1.22	5.65	4.78	0.61160	.	0.118236	0.37857	N	0.001911	T	0.34337	0.0894	M	0.63428	1.95	0.80722	D	1	P	0.45768	0.866	P	0.48598	0.583	T	0.29761	-1.0001	10	0.72032	D	0.01	.	14.7698	0.69668	0.0697:0.0:0.9303:0.0	.	1943	P46939	UTRO_HUMAN	S	1943	ENSP00000356515:A1943S	ENSP00000356515:A1943S	A	+	1	0	UTRN	144885938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.380000	0.66202	1.386000	0.46466	0.591000	0.81541	GCC		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			15	31	1	0	1.3612e-06	1	1.57881e-06	15	31				
FANCM	57697	broad.mit.edu	37	14	45605531	45605531	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605531C>T	ENST00000267430.5	+	1	382	c.297C>T	c.(295-297)tcC>tcT	p.S99S	FANCM_ENST00000542564.2_Silent_p.S99S|FKBP3_ENST00000216330.3_5'Flank|FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.S99S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	99	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCACATTTCCCGGGCTGCTC	0.567								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(295-297)tcC>tcT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							76.0	79.0	78.0					14																	45605531		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605531C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.297C>T	14.37:g.45605531C>T						FANCM_ENST00000556036.1_Silent_p.S99S|FANCM_ENST00000542564.2_Silent_p.S99S	p.S99S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	382	+			99			Helicase ATP-binding.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.297C>T	CCDS32070.1																																																																																				0.567	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		7	69	0	0	0	1	0	7	69				
MYH13	8735	broad.mit.edu	37	17	10210259	10210259	+	Silent	SNP	C	C	T	rs375055659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10210259C>T	ENST00000418404.3	-	35	5455	c.5292G>A	c.(5290-5292)acG>acA	p.T1764T	MYH13_ENST00000252172.4_Silent_p.T1764T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1764					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTCACATCCGTGATGGCCT	0.517																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5290-5292)acG>acA		myosin, heavy chain 13, skeletal muscle		C		0,4398		0,0,2199	107.0	109.0	108.0		5292	-8.4	0.4	17		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH13	NM_003802.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		1764/1939	10210259	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10210259C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5292G>A	17.37:g.10210259C>T						MYH13_ENST00000570743.1_Silent_p.T1764T|MYH13_ENST00000252172.4_Silent_p.T1764T	p.T1764T			Q9UKX3	MYH13_HUMAN			35	5455	-			1764					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.5292G>A	CCDS45613.1																																																																																				0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		27	37	0	0	0	1	0	27	37				
IGKJ5	28946	broad.mit.edu	37	2	89161303	89161303	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89161303G>T	ENST00000390238.2	-	0	0				IGKJ1_ENST00000390242.2_RNA|IGKJ3_ENST00000390240.2_RNA|AC096579.7_ENST00000430694.1_RNA|IGKJ4_ENST00000390239.2_RNA|AC096579.13_ENST00000452230.1_RNA|IGKJ2_ENST00000390241.2_RNA					immunoglobulin kappa joining 5																		AAGGATATCAGAGGCTGATTG	0.393																																						ENST00000430694.1																			0																																																			0							g.chr2:89161303G>T	J00242		2p11.2	2012-10-05			ENSG00000211593	ENSG00000211593		"""Immunoglobulins / IGK locus"""	5723	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151676		2.37:g.89161303G>T														0	721	-									RNA	SNP	ENST00000390238.2	37																																																																																						0.393	IGKJ5-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000323474.1	NG_000834		3	24	1	0	0.00909568	1	0.00947522	3	24				
ZNF12	7559	broad.mit.edu	37	7	6732108	6732108	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732108A>G	ENST00000405858.1	-	5	1006	c.465T>C	c.(463-465)agT>agC	p.S155S	ZNF12_ENST00000342651.5_Silent_p.S117S|ZNF12_ENST00000404360.1_Silent_p.S81S|AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	155					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCCATCACTACTAATATATT	0.373																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(463-465)agT>agC		zinc finger protein 12							109.0	105.0	106.0					7																	6732108		1881	4113	5994	SO:0001819	synonymous_variant	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6732108A>G	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.465T>C	7.37:g.6732108A>G						ZNF12_ENST00000342651.5_Silent_p.S117S|ZNF12_ENST00000404360.1_Silent_p.S81S|AC073343.13_ENST00000366167.2_RNA	p.S155S	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1006	-		Ovarian(82;0.0776)	155					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	ENST00000405858.1	37	c.465T>C	CCDS47538.1																																																																																				0.373	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		7	121	0	0	0	1	0	7	121				
SPIDR	23514	broad.mit.edu	37	8	48320493	48320493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48320493C>T	ENST00000297423.4	+	7	1231	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.Q223*|SPIDR_ENST00000541342.1_Nonsense_Mutation_p.Q213*	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	283	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											GTGGAGACATCAATGTATTTC	0.318																																						ENST00000297423.4																			0											c.(847-849)Caa>Taa		scaffolding protein involved in DNA repair							104.0	100.0	101.0					8																	48320493		1836	4093	5929	SO:0001587	stop_gained	23514							g.chr8:48320493C>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.847C>T	8.37:g.48320493C>T	ENSP00000297423:p.Gln283*					SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.Q223*|SPIDR_ENST00000541342.1_Nonsense_Mutation_p.Q213*	p.Q283*	NM_001080394.2	NP_001073863.1					7	1231	+								B4DFV2|B4E0Y6|Q96BI5	Nonsense_Mutation	SNP	ENST00000297423.4	37	c.847C>T	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.485433|5.485433	0.96323|0.96323	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342|ENST00000524033	.|.	.|.	.|.	5.0|5.0	4.11|4.11	0.48088|0.48088	.|.	0.139731|.	0.48767|.	D|.	0.000175|.	.|T	.|0.69269	.|0.3092	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77975	.|-0.2385	.|4	0.15952|0.56958	T|D	0.53|0.05	.|.	14.5573|14.5573	0.68109|0.68109	0.0:0.8521:0.1479:0.0|0.0:0.8521:0.1479:0.0	.|.	.|.	.|.	.|.	X|L	283;223;213|199	.|.	ENSP00000297423:Q283X|ENSP00000429997:S199L	Q|S	+|+	1|2	0|0	KIAA0146|KIAA0146	48483046|48483046	1.000000|1.000000	0.71417|0.71417	0.825000|0.825000	0.32803|0.32803	0.823000|0.823000	0.46562|0.46562	1.908000|1.908000	0.39907|0.39907	1.200000|1.200000	0.43188|0.43188	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.318	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		6	56	0	0	0	1	0	6	56				
RAB25	57111	broad.mit.edu	37	1	156038068	156038068	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156038068C>T	ENST00000361084.5	+	3	488	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	83					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CAGGTACTATCGTGGTGCAGT	0.562																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(247-249)Cgt>Tgt		RAB25, member RAS oncogene family							114.0	108.0	110.0					1																	156038068		2102	4263	6365	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038068C>T	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.247C>T	1.37:g.156038068C>T	ENSP00000354376:p.Arg83Cys					RAB25_ENST00000487325.1_3'UTR	p.R83C	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	488	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		83					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.247C>T	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458335	0.63401	.	.	ENSG00000132698	ENST00000361084	D	0.82526	-1.62	5.19	4.23	0.50019	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95144	0.8266	10	0.87932	D	0	.	12.1498	0.54044	0.292:0.7079:0.0:0.0	.	83	P57735	RAB25_HUMAN	C	83	ENSP00000354376:R83C	ENSP00000354376:R83C	R	+	1	0	RAB25	154304692	0.995000	0.38212	0.979000	0.43373	0.713000	0.41058	1.336000	0.33850	2.686000	0.91538	0.655000	0.94253	CGT		0.562	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			51	100	0	0	0	1	0	51	100				
DNAJA3	9093	broad.mit.edu	37	16	4498835	4498835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4498835G>T	ENST00000262375.6	+	9	1304	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	DNAJA3_ENST00000431375.2_Missense_Mutation_p.K256N|DNAJA3_ENST00000355296.4_Missense_Mutation_p.K409N	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	409					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TCCACATCAAGATACGAGTTC	0.592																																						ENST00000262375.6																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(1225-1227)aaG>aaT		DnaJ (Hsp40) homolog, subfamily A, member 3							80.0	58.0	66.0					16																	4498835		2197	4300	6497	SO:0001583	missense	9093				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding	g.chr16:4498835G>T	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1227G>T	16.37:g.4498835G>T	ENSP00000262375:p.Lys409Asn					DNAJA3_ENST00000431375.2_Missense_Mutation_p.K256N|DNAJA3_ENST00000355296.4_Missense_Mutation_p.K409N	p.K409N	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN			9	1304	+			409					B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	c.1227G>T	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947540	0.73787	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.39229	1.09;1.09;1.09	5.7	2.72	0.32119	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;1.0	T	0.54091	-0.8345	10	0.52906	T	0.07	-24.2467	9.787	0.40681	0.2189:0.0:0.7811:0.0	.	256;409;409	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	N	409;409;256	ENSP00000262375:K409N;ENSP00000347445:K409N;ENSP00000393970:K256N	ENSP00000262375:K409N	K	+	3	2	DNAJA3	4438836	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.085000	0.50151	0.357000	0.24183	-0.140000	0.14226	AAG		0.592	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			3	12	1	0	6.4e-05	1	7.11719e-05	3	12				
PCDHA9	9752	broad.mit.edu	37	5	140242835	140242835	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140242835C>T	ENST00000532602.1	+	1	3427				PCDHA7_ENST00000525929.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|AC005609.1_ENST00000502505.1_Silent_p.S47S|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGGCGTCGAGGTCCGGG	0.647																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(139-141)tcG>tcA																																						SO:0001627	intron_variant	0							g.chr5:140242835C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12361C>T	5.37:g.140242835C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.S47S							1	389	-								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.141G>A	CCDS54920.1																																																																																				0.647	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		8	14	0	0	0	1	0	8	14				
ABI2	10152	broad.mit.edu	37	2	204255867	204255867	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204255867G>A	ENST00000422511.2	+	5	609		c.e5+1		ABI2_ENST00000261016.6_Splice_Site|ABI2_ENST00000424558.1_Splice_Site|ABI2_ENST00000295851.5_Splice_Site|ABI2_ENST00000261018.7_Splice_Site|ABI2_ENST00000430418.1_Splice_Site|ABI2_ENST00000430574.1_Splice_Site|ABI2_ENST00000261017.5_Splice_Site			Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GGACACTTGGGTGAGTATATA	0.398																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.e5+1		abl-interactor 2							33.0	34.0	34.0					2																	204255867		2203	4300	6503	SO:0001630	splice_region_variant	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204255867G>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.578+1G>A	2.37:g.204255867G>A						ABI2_ENST00000261018.7_Splice_Site|ABI2_ENST00000422511.2_Splice_Site|ABI2_ENST00000430574.1_Splice_Site|ABI2_ENST00000261017.5_Splice_Site|ABI2_ENST00000261016.6_Splice_Site|ABI2_ENST00000430418.1_Splice_Site|ABI2_ENST00000424558.1_Splice_Site				Q9NYB9	ABI2_HUMAN			5	874	+								B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Splice_Site	SNP	ENST00000422511.2	37			.	.	.	.	.	.	.	.	.	.	G	21.7	4.189489	0.78789	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000451591;ENST00000261018;ENST00000454023	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4422	0.94825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABI2	203964112	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.225000	0.95219	2.580000	0.87095	0.467000	0.42956	.		0.398	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759	Intron	7	14	0	0	0	1	0	7	14				
RRP12	23223	broad.mit.edu	37	10	99131923	99131923	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99131923T>C	ENST00000370992.4	-	20	2361	c.2250A>G	c.(2248-2250)agA>agG	p.R750R	RRP12_ENST00000536831.1_Splice_Site_p.R468R|RRP12_ENST00000315563.6_Splice_Site_p.R650R|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Splice_Site_p.R689R	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	750						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGACAGACAATCTGCTCGGGG	0.592																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.e20-1		ribosomal RNA processing 12 homolog (S. cerevisiae)							73.0	58.0	63.0					10																	99131923		2203	4300	6503	SO:0001630	splice_region_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99131923T>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2250-1A>G	10.37:g.99131923T>C						RRP12_ENST00000414986.1_Splice_Site_p.R689_splice|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Splice_Site_p.R650_splice|RRP12_ENST00000536831.1_Splice_Site_p.R468_splice	p.R750_splice	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	20	2361	-		Colorectal(252;0.162)	750					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Splice_Site	SNP	ENST00000370992.4	37	c.2249_splice	CCDS7457.1																																																																																				0.592	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	Silent	10	10	0	0	0	1	0	10	10				
IVNS1ABP	10625	broad.mit.edu	37	1	185267195	185267195	+	Missense_Mutation	SNP	C	C	A	rs373219611		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185267195C>A	ENST00000367498.3	-	15	2523	c.1901G>T	c.(1900-1902)aGc>aTc	p.S634I	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.S416I|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	634					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTATAGGGGCTCCATTCATT	0.378																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1900-1902)aGc>aTc		influenza virus NS1A binding protein							122.0	125.0	124.0					1																	185267195		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267195C>A	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1901G>T	1.37:g.185267195C>A	ENSP00000356468:p.Ser634Ile					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.S416I	p.S634I	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			15	2523	-			634					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1901G>T	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177016	0.57692	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.78924	-1.22;-1.22	5.38	4.47	0.54385	Galactose oxidase, beta-propeller (1);	0.074466	0.85682	D	0.000000	D	0.83252	0.5214	L	0.49126	1.545	0.53005	D	0.999965	P;D	0.60160	0.944;0.987	P;P	0.62885	0.462;0.908	D	0.85180	0.1003	10	0.87932	D	0	.	14.3056	0.66382	0.0:0.9283:0.0:0.0716	.	416;634	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	I	634;416	ENSP00000356468:S634I;ENSP00000375864:S416I	ENSP00000356468:S634I	S	-	2	0	IVNS1ABP	183533818	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.035000	0.49759	1.408000	0.46895	0.563000	0.77884	AGC		0.378	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		35	156	1	0	3.11337e-16	1	4.01248e-16	35	156				
NOS1	4842	broad.mit.edu	37	12	117669819	117669819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117669819G>A	ENST00000338101.4	-	22	3459	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	NOS1_ENST00000317775.6_Missense_Mutation_p.A1118V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGCTAGGGAGGCAAACTGCTG	0.617																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3352-3354)gCc>gTc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						56.0	64.0	61.0					12																	117669819		2167	4267	6434	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117669819G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3455C>T	12.37:g.117669819G>A	ENSP00000337459:p.Ala1152Val					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1152V	p.A1118V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	22	4038	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1118			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000338101.4	37	c.3353C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607928	0.87258	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.72051	-0.62;-0.62	4.55	4.55	0.56014	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.85052	0.0929	10	0.87932	D	0	-35.5754	17.4925	0.87708	0.0:0.0:1.0:0.0	.	1118	P29475	NOS1_HUMAN	V	1013;1118;1118;1152	ENSP00000320758:A1118V;ENSP00000337459:A1152V	ENSP00000320758:A1118V	A	-	2	0	NOS1	116154202	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	9.657000	0.98554	2.371000	0.80710	0.305000	0.20034	GCC		0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			9	15	0	0	0	1	0	9	15				
HID1	283987	broad.mit.edu	37	17	72958369	72958369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72958369C>T	ENST00000425042.2	-	5	648	c.571G>A	c.(571-573)Gct>Act	p.A191T	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	191					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GGGGAGTGAGCGAAGCCCACA	0.657																																						ENST00000425042.2																			0											c.(571-573)Gct>Act		HID1 domain containing							45.0	45.0	45.0					17																	72958369		2203	4300	6503	SO:0001583	missense	283987							g.chr17:72958369C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.571G>A	17.37:g.72958369C>T	ENSP00000413520:p.Ala191Thr						p.A191T	NM_030630.2	NP_085133.1					5	648	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.571G>A	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110963	0.94292	.	.	ENSG00000167861	ENST00000425042;ENST00000530857	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	L	0.59436	1.845	0.58432	D	0.999998	D;B	0.63880	0.993;0.28	P;B	0.60949	0.881;0.153	T	0.74674	-0.3586	9	0.44086	T	0.13	.	17.5269	0.87803	0.0:1.0:0.0:0.0	.	190;191	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	T	191;83	.	ENSP00000413520:A191T	A	-	1	0	C17orf28	70469964	1.000000	0.71417	0.970000	0.41538	0.965000	0.64279	6.083000	0.71326	2.150000	0.67090	0.313000	0.20887	GCT		0.657	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		16	16	0	0	0	1	0	16	16				
PLXND1	23129	broad.mit.edu	37	3	129324846	129324846	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129324846A>G	ENST00000324093.4	-	1	815	c.637T>C	c.(637-639)Tac>Cac	p.Y213H	PLXND1_ENST00000393239.1_Missense_Mutation_p.Y213H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	213	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAACCGGTGTACGTGGCGCCC	0.716																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(637-639)Tac>Cac		plexin D1							12.0	14.0	13.0					3																	129324846		2155	4236	6391	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324846A>G	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.637T>C	3.37:g.129324846A>G	ENSP00000317128:p.Tyr213His					PLXND1_ENST00000324093.4_Missense_Mutation_p.Y213H	p.Y213H			Q9Y4D7	PLXD1_HUMAN			1	815	-			213			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.637T>C	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	a	14.82	2.649489	0.47362	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.04917	3.53;3.53	3.31	3.31	0.37934	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	1.223690	0.05936	U	0.636076	T	0.23688	0.0573	M	0.72894	2.215	0.43508	D	0.995763	D	0.76494	0.999	D	0.83275	0.996	T	0.01484	-1.1343	10	0.87932	D	0	.	6.984	0.24718	0.7961:0.0:0.0:0.2038	.	213	Q9Y4D7	PLXD1_HUMAN	H	213	ENSP00000317128:Y213H;ENSP00000376931:Y213H	ENSP00000317128:Y213H	Y	-	1	0	PLXND1	130807536	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	8.473000	0.90410	1.402000	0.46780	0.249000	0.18162	TAC		0.716	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		2	5	0	0	0	1	0	2	5				
DOK2	9046	broad.mit.edu	37	8	21771103	21771103	+	Missense_Mutation	SNP	C	C	T	rs149394218	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21771103C>T	ENST00000276420.4	-	1	268	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	4	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTCACTGCCCCGTCTCCCATC	0.587																																						ENST00000276420.4																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(10-12)Ggg>Agg		docking protein 2, 56kDa		C	ARG/GLY	0,4406		0,0,2203	152.0	138.0	143.0		10	1.1	0.0	8	dbSNP_134	143	4,8596	3.7+/-12.6	0,4,4296	no	missense	DOK2	NM_003974.2	125	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	4/413	21771103	4,13002	2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21771103C>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.10G>A	8.37:g.21771103C>T	ENSP00000276420:p.Gly4Arg					DOK2_ENST00000544659.1_5'UTR	p.G4R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	1	268	-			4			PH.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.10G>A	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	C	0.197	-1.047765	0.01981	0.0	4.65E-4	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.44881	1.89;0.91	4.95	1.1	0.20463	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	1.087020	0.07165	N	0.851454	T	0.22166	0.0534	N	0.19112	0.55	0.20563	N	0.999884	B;P	0.35714	0.234;0.517	B;B	0.25405	0.038;0.06	T	0.13575	-1.0504	10	0.27082	T	0.32	-0.6516	5.4177	0.16384	0.0:0.6126:0.1446:0.2428	.	4;4	O60496;A8K7W1	DOK2_HUMAN;.	R	4	ENSP00000276420:G4R;ENSP00000429224:G4R	ENSP00000276420:G4R	G	-	1	0	DOK2	21827049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.061000	0.11693	-0.087000	0.12528	-0.140000	0.14226	GGG		0.587	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		23	35	0	0	0	1	0	23	35				
PHLDB1	23187	broad.mit.edu	37	11	118514793	118514793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118514793G>A	ENST00000361417.2	+	16	3433	c.3022G>A	c.(3022-3024)Gct>Act	p.A1008T	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A961T|PHLDB1_ENST00000527898.1_Missense_Mutation_p.A44T|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Missense_Mutation_p.A151T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1008										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTGCAGAGCGCTCTACTCAC	0.612																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3022-3024)Gct>Act		pleckstrin homology-like domain, family B, member 1							88.0	67.0	74.0					11																	118514793		2199	4295	6494	SO:0001583	missense	23187							g.chr11:118514793G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3022G>A	11.37:g.118514793G>A	ENSP00000354498:p.Ala1008Thr					PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.A961T|PHLDB1_ENST00000524713.1_Missense_Mutation_p.A151T|PHLDB1_ENST00000527898.1_Missense_Mutation_p.A44T	p.A1008T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	16	3433	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1008					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.3022G>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317888	0.40996	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.47869	0.94;0.83;0.94;0.94	5.09	-6.83	0.01693	.	0.696787	0.14773	N	0.299276	T	0.25531	0.0621	L	0.43152	1.355	0.19300	N	0.999979	B;B;B;B;B;B;B	0.25441	0.117;0.003;0.001;0.003;0.001;0.126;0.003	B;B;B;B;B;B;B	0.23018	0.021;0.002;0.002;0.002;0.002;0.043;0.002	T	0.31806	-0.9930	10	0.12430	T	0.62	-0.2004	4.0902	0.09965	0.5117:0.1512:0.2477:0.0894	.	146;151;372;752;961;961;1008	B7Z2B9;B4DK17;B0YJ65;Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;.;.;.;PHLB1_HUMAN	T	1008;767;372;961;44;151	ENSP00000354498:A1008T;ENSP00000348359:A961T;ENSP00000435388:A44T;ENSP00000434905:A151T	ENSP00000348359:A961T	A	+	1	0	PHLDB1	118020003	0.001000	0.12720	0.000000	0.03702	0.500000	0.33767	0.013000	0.13310	-1.403000	0.02053	-0.742000	0.03525	GCT		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		12	15	0	0	0	1	0	12	15				
TUBA3C	7278	broad.mit.edu	37	13	19748151	19748151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748151C>T	ENST00000400113.3	-	5	1309	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	402					'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)		CACAAAGGCCCGCTTGGCATA	0.612																																						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.(1204-1206)cGg>cAg		tubulin, alpha 3c							142.0	132.0	135.0					13																	19748151		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.chr13:19748151C>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.1205G>A	13.37:g.19748151C>T	ENSP00000382982:p.Arg402Gln						p.R402Q	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	1309	-		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)	402					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1205G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	12.22	1.873643	0.33069	.	.	ENSG00000198033	ENST00000400113	D	0.86230	-2.09	1.22	1.22	0.21188	.	0.000000	0.42821	U	0.000646	D	0.88317	0.6404	.	.	.	0.39426	D	0.967006	.	.	.	.	.	.	D	0.87940	0.2716	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	Q	402	ENSP00000382982:R402Q	ENSP00000382982:R402Q	R	-	2	0	TUBA3C	18646151	0.999000	0.42202	0.993000	0.49108	0.916000	0.54674	4.702000	0.61817	0.982000	0.38575	0.194000	0.17425	CGG		0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		7	101	0	0	0	1	0	7	101				
BTAF1	9044	broad.mit.edu	37	10	93743997	93743997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93743997C>T	ENST00000265990.6	+	19	2571	c.2263C>T	c.(2263-2265)Ctt>Ttt	p.L755F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	755					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCCGCGTTTACTTGATATCCT	0.338																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(2263-2265)Ctt>Ttt		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							109.0	101.0	104.0					10																	93743997		2202	4300	6502	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93743997C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2263C>T	10.37:g.93743997C>T	ENSP00000265990:p.Leu755Phe					BTAF1_ENST00000471217.1_3'UTR	p.L755F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			19	2571	+		Colorectal(252;0.0846)	755					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.2263C>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225626	0.39300	.	.	ENSG00000095564	ENST00000265990	T	0.71222	-0.55	5.67	5.67	0.87782	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.70275	2.135	0.80722	D	1	B;B	0.24576	0.106;0.106	B;B	0.31290	0.127;0.127	T	0.67569	-0.5637	10	0.09590	T	0.72	-7.8276	19.7677	0.96349	0.0:1.0:0.0:0.0	.	755;755	Q2M1V9;O14981	.;BTAF1_HUMAN	F	755	ENSP00000265990:L755F	ENSP00000265990:L755F	L	+	1	0	BTAF1	93733977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.814000	0.62627	2.668000	0.90789	0.650000	0.86243	CTT		0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		21	29	0	0	0	1	0	21	29				
SCMH1	22955	broad.mit.edu	37	1	41579057	41579057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41579057G>A	ENST00000326197.7	-	7	912	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SCMH1_ENST00000372597.1_Nonsense_Mutation_p.R158*|SCMH1_ENST00000402904.2_Nonsense_Mutation_p.R205*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.R215*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.R144*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.R185*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.R158*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.R144*					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAGGCCCCTCGCCACCCATCA	0.567																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(613-615)Cga>Tga		sex comb on midleg homolog 1 (Drosophila)							108.0	103.0	105.0					1																	41579057		2203	4300	6503	SO:0001587	stop_gained	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41579057G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.613C>T	1.37:g.41579057G>A	ENSP00000318094:p.Arg205*					SCMH1_ENST00000326197.7_Nonsense_Mutation_p.R205*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.R215*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.R185*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.R158*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.R144*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.R144*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.R158*|SCMH1_ENST00000456518.2_Intron	p.R205*	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			8	981	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	205						Nonsense_Mutation	SNP	ENST00000326197.7	37	c.613C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	41	8.585518	0.98875	.	.	ENSG00000010803	ENST00000361705;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	.	.	.	5.72	4.8	0.61643	.	0.068547	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2709	0.54706	0.0:0.0:0.5847:0.4152	.	.	.	.	X	158;205;185;144;144;158;144;215;144;205	.	ENSP00000318094:R205X	R	-	1	2	SCMH1	41351644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.338000	0.52128	1.403000	0.46800	0.557000	0.71058	CGA		0.567	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			45	46	0	0	0	1	0	45	46				
SUPT3H	8464	broad.mit.edu	37	6	44971423	44971423	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44971423G>A	ENST00000371459.1	-	6	636	c.471C>T	c.(469-471)gaC>gaT	p.D157D	SUPT3H_ENST00000371461.2_Silent_p.D168D|SUPT3H_ENST00000306867.5_Silent_p.D157D|SUPT3H_ENST00000371460.1_Silent_p.D168D	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	239					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCAATTTCGTCATCTTCAA	0.378																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(502-504)gaC>gaT		suppressor of Ty 3 homolog (S. cerevisiae)							168.0	150.0	156.0					6																	44971423		2203	4297	6500	SO:0001819	synonymous_variant	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44971423G>A	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.471C>T	6.37:g.44971423G>A						SUPT3H_ENST00000306867.5_Silent_p.D157D|SUPT3H_ENST00000371461.2_Silent_p.D168D|SUPT3H_ENST00000371459.1_Silent_p.D157D	p.D168D	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			8	821	-			239					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Silent	SNP	ENST00000371459.1	37	c.504C>T	CCDS34465.1																																																																																				0.378	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		28	49	0	0	0	1	0	28	49				
SLC9A5	6553	broad.mit.edu	37	16	67305108	67305108	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67305108C>A	ENST00000299798.11	+	16	2751	c.2686C>A	c.(2686-2688)Ctg>Atg	p.L896M		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	896					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGCAGCCGGCTGTAGCTCAA	0.627																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2686-2688)Ctg>Atg		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							11.0	12.0	12.0					16																	67305108		1909	4027	5936	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67305108C>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2686C>A	16.37:g.67305108C>A	ENSP00000299798:p.Leu896Met						p.L896M	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	16	2751	+		Ovarian(137;0.0563)	896					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.2686C>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687192	0.48097	.	.	ENSG00000135740	ENST00000299798	T	0.61274	0.12	4.93	4.93	0.64822	.	0.145936	0.30639	N	0.009194	T	0.62429	0.2427	N	0.19112	0.55	0.30022	N	0.81423	D	0.65815	0.995	D	0.70487	0.969	T	0.64166	-0.6471	10	0.62326	D	0.03	.	15.4877	0.75578	0.0:1.0:0.0:0.0	.	896	Q14940	SL9A5_HUMAN	M	896	ENSP00000299798:L896M	ENSP00000299798:L896M	L	+	1	2	SLC9A5	65862609	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.744000	0.47450	2.335000	0.79485	0.549000	0.68633	CTG		0.627	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			3	8	1	0	0.004672	1	0.0049138	3	8				
KRT26	353288	broad.mit.edu	37	17	38926514	38926514	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38926514A>G	ENST00000335552.4	-	3	720	c.672T>C	c.(670-672)agT>agC	p.S224S		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCTCCTCATGACTTTTTTTGA	0.458																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(670-672)agT>agC		keratin 26							109.0	105.0	106.0					17																	38926514		2203	4300	6503	SO:0001819	synonymous_variant	353288					intermediate filament	structural molecule activity	g.chr17:38926514A>G	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.672T>C	17.37:g.38926514A>G							p.S224S	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			3	720	-		Breast(137;0.00526)	224			Coil 1B.|Rod.			Silent	SNP	ENST00000335552.4	37	c.672T>C	CCDS11374.1																																																																																				0.458	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		3	70	0	0	0	1	0	3	70				
MACROD2	140733	broad.mit.edu	37	20	15210598	15210598	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15210598C>A	ENST00000310348.4	+	6	431	c.431C>A	c.(430-432)aCt>aAt	p.T144N	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Missense_Mutation_p.T144N			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	144	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTCATCCATACTGTAGGGCCA	0.338																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(430-432)aCt>aAt		MACRO domain containing 2							84.0	76.0	79.0					20																	15210598		1806	4068	5874	SO:0001583	missense	140733							g.chr20:15210598C>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.431C>A	20.37:g.15210598C>A	ENSP00000309809:p.Thr144Asn					MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.T144N	p.T144N	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			6	826	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	144			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.431C>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419130	0.83559	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.26223	1.75;1.75	5.76	5.76	0.90799	Appr-1-p processing (3);	0.000000	0.64402	D	0.000003	T	0.72301	0.3443	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.84074	0.0381	10	0.87932	D	0	-9.7884	20.3431	0.98773	0.0:1.0:0.0:0.0	.	144;144	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	N	144	ENSP00000217246:T144N;ENSP00000309809:T144N	ENSP00000217246:T144N	T	+	2	0	MACROD2	15158598	1.000000	0.71417	0.956000	0.39512	0.987000	0.75469	6.432000	0.73400	2.880000	0.98712	0.650000	0.86243	ACT		0.338	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		3	48	1	0	0.115264	1	0.117355	3	48				
A2M	2	broad.mit.edu	37	12	9268435	9268435	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9268435T>G	ENST00000318602.7	-	1	318	c.11A>C	c.(10-12)aAc>aCc	p.N4T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	4					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AAGGAGTTTGTTCTTCCCCAT	0.502																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(10-12)aAc>aCc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						115.0	118.0	117.0					12																	9268435		1946	4140	6086	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9268435T>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.11A>C	12.37:g.9268435T>G	ENSP00000323929:p.Asn4Thr						p.N4T	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			1	318	-			4					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.11A>C	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	6.014	0.371042	0.11409	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.45276	0.9;0.9	5.6	0.503	0.16940	TonB box, conserved site (1);	1.477220	0.04426	N	0.368472	T	0.41143	0.1146	M	0.63843	1.955	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.34179	-0.9839	10	0.49607	T	0.09	.	7.6635	0.28417	0.0:0.3455:0.0:0.6545	.	4	P01023	A2MG_HUMAN	T	4;19;4	ENSP00000323929:N4T;ENSP00000385710:N4T	ENSP00000323929:N4T	N	-	2	0	A2M	9159702	0.000000	0.05858	0.015000	0.15790	0.030000	0.12068	-0.075000	0.11431	0.065000	0.16485	0.533000	0.62120	AAC		0.502	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	79	0	0	0	1	0	3	79				
SAMD4A	23034	broad.mit.edu	37	14	55034670	55034670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55034670C>T	ENST00000554335.1	+	2	699	c.36C>T	c.(34-36)ggC>ggT	p.G12G	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.G11G|SAMD4A_ENST00000392067.3_Silent_p.G12G|SAMD4A_ENST00000251091.5_Silent_p.G12G			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	12					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCTGGCGGGCTGGTTTAAGG	0.697																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(34-36)ggC>ggT		sterile alpha motif domain containing 4A							44.0	49.0	47.0					14																	55034670		2203	4300	6503	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55034670C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.36C>T	14.37:g.55034670C>T						SAMD4A_ENST00000554335.1_Silent_p.G12G|SAMD4A_ENST00000392067.3_Silent_p.G12G|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.G11G	p.G12G	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			1	341	+			12					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.36C>T	CCDS32084.2																																																																																				0.697	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		6	27	0	0	0	1	0	6	27				
KIF26B	55083	broad.mit.edu	37	1	245847663	245847663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245847663C>T	ENST00000407071.2	+	11	2827	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L	KIF26B_ENST00000366518.4_Missense_Mutation_p.S415L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	796	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGATTGCATCGAGAGTCTTG	0.597																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1243-1245)tCg>tTg		kinesin family member 26B							38.0	40.0	39.0					1																	245847663		1971	4157	6128	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245847663C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2387C>T	1.37:g.245847663C>T	ENSP00000385545:p.Ser796Leu					KIF26B_ENST00000407071.2_Missense_Mutation_p.S796L	p.S415L			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		8	1348	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		796					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1244C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346223	0.82022	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.01	5.73	5.73	0.89815	Kinesin, motor domain (3);	.	.	.	.	D	0.86997	0.6068	M	0.66506	2.035	0.80722	D	1	P;D	0.65815	0.918;0.995	P;D	0.63597	0.653;0.916	D	0.87505	0.2436	9	0.87932	D	0	.	19.8966	0.96963	0.0:1.0:0.0:0.0	.	415;796	B7WPD9;Q2KJY2	.;KI26B_HUMAN	L	796;415;412	ENSP00000385545:S796L;ENSP00000355475:S415L	ENSP00000355475:S415L	S	+	2	0	KIF26B	243914286	1.000000	0.71417	0.236000	0.24074	0.667000	0.39255	7.818000	0.86416	2.700000	0.92200	0.655000	0.94253	TCG		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		7	19	0	0	0	1	0	7	19				
GRM2	2912	broad.mit.edu	37	3	51747018	51747018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51747018T>G	ENST00000395052.3	+	3	1214	c.980T>G	c.(979-981)tTt>tGt	p.F327C	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.F327C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	327					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCAGTGACTTTGCCTCCTAC	0.617																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(979-981)tTt>tGt		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						59.0	51.0	54.0					3																	51747018		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51747018T>G	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.980T>G	3.37:g.51747018T>G	ENSP00000378492:p.Phe327Cys					GRM2_ENST00000442933.2_Missense_Mutation_p.F327C|GRM2_ENST00000475478.1_Intron	p.F327C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1214	+			327					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.980T>G	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124454	0.77436	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.85629	-2.01;-2.01	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95861	0.8883	10	0.87932	D	0	.	15.222	0.73320	0.0:0.0:0.0:1.0	.	327	Q14416	GRM2_HUMAN	C	327	ENSP00000378492:F327C;ENSP00000408906:F327C	ENSP00000296479:F327C	F	+	2	0	GRM2	51722058	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.029000	0.88807	2.076000	0.62316	0.454000	0.30748	TTT		0.617	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			8	52	0	0	0	1	0	8	52				
DZIP3	9666	broad.mit.edu	37	3	108366851	108366851	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108366851C>T	ENST00000361582.3	+	16	2084	c.1854C>T	c.(1852-1854)taC>taT	p.Y618Y	DZIP3_ENST00000463306.1_Silent_p.Y618Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	618					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCATGGAGTACAATATAAATG	0.333																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1852-1854)taC>taT		DAZ interacting zinc finger protein 3							109.0	114.0	112.0					3																	108366851		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108366851C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1854C>T	3.37:g.108366851C>T						DZIP3_ENST00000463306.1_Silent_p.Y618Y	p.Y618Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			16	2084	+			618					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.1854C>T	CCDS2952.1																																																																																				0.333	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		12	103	0	0	0	1	0	12	103				
LRRC47	57470	broad.mit.edu	37	1	3703769	3703769	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703769G>A	ENST00000378251.1	-	2	748	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	241							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTCTCCAGGCGCTTGTCCCTC	0.632																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(721-723)Cgc>Tgc		leucine rich repeat containing 47							60.0	54.0	56.0					1																	3703769		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703769G>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.721C>T	1.37:g.3703769G>A	ENSP00000367498:p.Arg241Cys						p.R241C	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	748	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	241					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.721C>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435069	0.62955	.	.	ENSG00000130764	ENST00000378251	T	0.49720	0.77	4.89	4.89	0.63831	.	0.051900	0.85682	D	0.000000	T	0.66157	0.2761	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69953	-0.5005	10	0.87932	D	0	-28.785	17.1132	0.86681	0.0:0.0:1.0:0.0	.	241	Q8N1G4	LRC47_HUMAN	C	241	ENSP00000367498:R241C	ENSP00000367498:R241C	R	-	1	0	LRRC47	3693629	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	7.262000	0.78410	2.264000	0.75181	0.650000	0.86243	CGC		0.632	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		20	18	0	0	0	1	0	20	18				
SACS	26278	broad.mit.edu	37	13	23912410	23912410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912410C>A	ENST00000382292.3	-	9	5878	c.5605G>T	c.(5605-5607)Gag>Tag	p.E1869*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E1119*|SACS_ENST00000382298.3_Nonsense_Mutation_p.E1869*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1869					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAAACACCTCTCCAATGTGT	0.433																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5605-5607)Gag>Tag		spastic ataxia of Charlevoix-Saguenay (sacsin)							117.0	117.0	117.0					13																	23912410		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912410C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5605G>T	13.37:g.23912410C>A	ENSP00000371729:p.Glu1869*					SACS_ENST00000382292.3_Nonsense_Mutation_p.E1869*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1119*	p.E1869*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6193	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1869					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.5605G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	55	25.053458	0.99963	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	.	.	.	X	1869;1119;1869	.	ENSP00000371729:E1869X	E	-	1	0	SACS	22810410	1.000000	0.71417	0.755000	0.31263	0.549000	0.35272	7.487000	0.81328	2.712000	0.92718	0.591000	0.81541	GAG		0.433	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	74	1	0	0.0293803	1	0.0301098	7	74				
PLEKHG3	26030	broad.mit.edu	37	14	65209908	65209908	+	Silent	SNP	C	C	T	rs202235734	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65209908C>T	ENST00000394691.1	+	17	3294	c.3147C>T	c.(3145-3147)gaC>gaT	p.D1049D	PLEKHG3_ENST00000247226.7_Silent_p.D993D|PLEKHG3_ENST00000471182.2_Silent_p.D582D|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.D554D			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1049							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGCCCGACGTCCGTGAGC	0.721													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		14740	0.0		0.0	False		,,,				2504	0.0					ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2977-2979)gaC>gaT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							40.0	48.0	45.0					14																	65209908		2201	4298	6499	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209908C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3147C>T	14.37:g.65209908C>T						PLEKHG3_ENST00000484731.2_Silent_p.D554D|PLEKHG3_ENST00000471182.2_Silent_p.D582D|PLEKHG3_ENST00000394691.1_Silent_p.D1049D|PLEKHG3_ENST00000492928.1_Intron	p.D993D	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3287	+			1049					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.2979C>T																																																																																					0.721	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		32	39	0	0	0	1	0	32	39				
MYH7B	57644	broad.mit.edu	37	20	33568472	33568472	+	Missense_Mutation	SNP	G	G	A	rs374369942		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568472G>A	ENST00000262873.7	+	6	652	c.560G>A	c.(559-561)cGc>cAc	p.R187H	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	145	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGGAAAGCGCCGCTCAGAT	0.582																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(559-561)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta		G	HIS/ARG	0,4338		0,0,2169	88.0	98.0	94.0		560	4.5	1.0	20		94	1,8577		0,1,4288	no	missense	MYH7B	NM_020884.3	29	0,1,6457	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	187/1984	33568472	1,12915	2169	4289	6458	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33568472G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.560G>A	20.37:g.33568472G>A	ENSP00000262873:p.Arg187His					MYH7B_ENST00000481922.1_3'UTR	p.R187H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		6	652	+			145			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.560G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056889	0.76074	0.0	1.17E-4	ENSG00000078814	ENST00000262873	D	0.87571	-2.27	4.46	4.46	0.54185	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004048	D	0.93125	0.7811	M	0.75264	2.295	0.47374	D	0.9994	D	0.89917	1.0	D	0.87578	0.998	D	0.94011	0.7284	10	0.87932	D	0	.	17.6559	0.88177	0.0:0.0:1.0:0.0	.	145	A7E2Y1	MYH7B_HUMAN	H	187	ENSP00000262873:R187H	ENSP00000262873:R187H	R	+	2	0	MYH7B	33032133	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.583000	0.67484	2.472000	0.83506	0.655000	0.94253	CGC		0.582	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		40	58	0	0	0	1	0	40	58				
LENG8	114823	broad.mit.edu	37	19	54963829	54963829	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54963829G>A	ENST00000326764.5	+	4	692		c.e4-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8											breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCTTCCACAGTACGTGTCCC	0.562																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.e4-1		leukocyte receptor cluster (LRC) member 8							125.0	96.0	106.0					19																	54963829		2203	4300	6503	SO:0001630	splice_region_variant	114823						protein binding	g.chr19:54963829G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.214-1G>A	19.37:g.54963829G>A						LENG8_ENST00000376514.2_Intron		NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	4	692	+	Ovarian(34;0.19)							B0VJY9|Q8IZ27|Q8NCX6	Splice_Site	SNP	ENST00000326764.5	37		CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654866	0.67472	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000436479;ENST00000443957;ENST00000431846	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6506	0.77088	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LENG8	59655641	1.000000	0.71417	0.931000	0.37212	0.905000	0.53344	4.830000	0.62745	2.374000	0.81015	0.561000	0.74099	.		0.562	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	Intron	15	35	0	0	0	1	0	15	35				
SPAG11B	10407	broad.mit.edu	37	8	7308697	7308697	+	Missense_Mutation	SNP	C	C	T	rs201164210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:7308697C>T	ENST00000297498.2	-	3	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPAG11B_ENST00000528168.1_Missense_Mutation_p.R27Q|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	80					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.R80Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGAGGGTCCTCGAGCCTCCCG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22446	0.0		0.0	False		,,,				2504	0.0					ENST00000297498.2																			1	Substitution - Missense(1)	p.R80Q(1)	urinary_tract(1)	large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(238-240)cGa>cAa		sperm associated antigen 11B		C	GLN/ARG,,,,GLN/ARG,	6,4156		0,6,2075	76.0	91.0	86.0		239,,,,80,	-0.3	0.0	8		86	0,8380		0,0,4190	no	missense,intron,intron,intron,missense,intron	SPAG11B	NM_016512.3,NM_058200.2,NM_058201.2,NM_058202.2,NM_058206.3,NM_058207.2	43,,,,43,	0,6,6265	TT,TC,CC		0.0,0.1442,0.0478	,,,,,	80/104,,,,27/51,	7308697	6,12536	2081	4190	6271	SO:0001583	missense	10407				spermatogenesis	extracellular region		g.chr8:7308697C>T	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.239G>A	8.37:g.7308697C>T	ENSP00000297498:p.Arg80Gln					SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R27Q|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron	p.R80Q	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	405	-			80					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	c.239G>A	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601885	0.28534	0.001442	0.0	ENSG00000164871	ENST00000297498;ENST00000528168	T;T	0.53857	1.16;0.6	2.69	-0.272	0.12919	.	.	.	.	.	T	0.24851	0.0603	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.043;0.072	B;B	0.12156	0.002;0.007	T	0.13737	-1.0498	9	0.27785	T	0.31	.	3.0352	0.06119	0.0:0.4779:0.2364:0.2857	.	80;27	Q08648;Q08648-2	SG11B_HUMAN;.	Q	80;27	ENSP00000297498:R80Q;ENSP00000431230:R27Q	ENSP00000297498:R80Q	R	-	2	0	SPAG11B	7296107	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.347000	0.07750	-0.071000	0.12886	0.454000	0.30748	CGA		0.468	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7	44	0	0	0	1	0	7	44				
MOB3C	148932	broad.mit.edu	37	1	47080742	47080742	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47080742G>A	ENST00000319928.3	-	1	181				MOB3C_ENST00000477318.1_Intron|MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.R3C|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C								metal ion binding (GO:0046872)										AGATTTCTGCGCTTCATTTGC	0.517																																						ENST00000271139.8																			0											c.(7-9)Cgc>Tgc		MOB kinase activator 3C							65.0	66.0	65.0					1																	47080742		2203	4300	6503	SO:0001627	intron_variant	148932						metal ion binding	g.chr1:47080742G>A	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.49+1640C>T	1.37:g.47080742G>A						MOB3C_ENST00000477318.1_Intron|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000319928.3_Intron	p.R3C	NM_145279.4	NP_660322.2	Q70IA8	MOL2C_HUMAN			1	63	-			0					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.7C>T	CCDS540.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048786	0.07407	.	.	ENSG00000142961	ENST00000271139	.	.	.	3.12	-6.24	0.02046	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.59878	-0.7371	5	0.87932	D	0	.	10.6541	0.45665	0.6962:0.1851:0.1187:0.0	.	.	.	.	C	3	.	ENSP00000271139:R3C	R	-	1	0	MOBKL2C	46853329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.312000	0.00516	-4.248000	0.00062	-1.910000	0.00522	CGC		0.517	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		21	38	0	0	0	1	0	21	38				
PRODH	5625	broad.mit.edu	37	22	18918708	18918708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18918708G>A	ENST00000357068.6	-	2	542	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	PRODH_ENST00000420436.1_Intron|PRODH_ENST00000334029.2_5'UTR	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	93					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GAAACATACAGCAGCTGAAAG	0.547																																						ENST00000357068.6																			0				breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9						c.(277-279)Ctg>Ttg		proline dehydrogenase (oxidase) 1	L-Proline(DB00172)						40.0	35.0	37.0					22																	18918708		2203	4299	6502	SO:0001819	synonymous_variant	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18918708G>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.277C>T	22.37:g.18918708G>A						PRODH_ENST00000334029.2_5'UTR|PRODH_ENST00000420436.1_Intron	p.L93L	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN			2	542	-			93					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	ENST00000357068.6	37	c.277C>T	CCDS13754.1																																																																																				0.547	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		12	13	0	0	0	1	0	12	13				
RSRP1	57035	broad.mit.edu	37	1	25573443	25573443	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573443G>A	ENST00000243189.7	-	2	288	c.12C>T	c.(10-12)taC>taT	p.Y4Y	C1orf63_ENST00000417642.2_De_novo_Start_OutOfFrame|C1orf63_ENST00000431849.2_Silent_p.Y4Y|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		4										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGTCGTTCACGTAGTTGGACA	0.597																																						ENST00000417642.2																			0				breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7								chromosome 1 open reading frame 63							36.0	39.0	38.0					1																	25573443		2165	4225	6390	SO:0001819	synonymous_variant	57035							g.chr1:25573443G>A																												ENST00000243189.7:c.12C>T	1.37:g.25573443G>A						C1orf63_ENST00000431849.2_Silent_p.Y4Y|C1orf63_ENST00000243189.7_Silent_p.Y4Y				Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	0	223	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)						A8K917|Q49AA4|Q5TH71|Q9GZP6	Translation_Start_Site	SNP	ENST00000243189.7	37		CCDS260.1																																																																																				0.597	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			25	31	0	0	0	1	0	25	31				
ATPIF1	93974	broad.mit.edu	37	1	28564459	28564459	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28564459G>A	ENST00000335514.5	+	3	342	c.291G>A	c.(289-291)caG>caA	p.Q97Q	ATPIF1_ENST00000497986.1_3'UTR|RP5-1092A3.4_ENST00000604716.1_RNA|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	97	Antiparallel alpha-helical coiled coil region. {ECO:0000250}.				angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCATAAGCAGAAGATCAAAA	0.413																																						ENST00000335514.5																			0				lung(4)	4						c.(289-291)caG>caA		ATPase inhibitory factor 1							95.0	83.0	87.0					1																	28564459		2203	4300	6503	SO:0001819	synonymous_variant	93974				angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	g.chr1:28564459G>A	AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"""Mitochondrial respiratory chain complex / Complex V"""	871	protein-coding gene	gene with protein product	"""ATPase inhibitor protein"", ""ATP synthase inhibitor protein"""	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.291G>A	1.37:g.28564459G>A						ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000465645.1_3'UTR	p.Q97Q	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	342	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	97					Q5JXL8|Q6IAQ7|Q9BSL9	Silent	SNP	ENST00000335514.5	37	c.291G>A	CCDS319.1																																																																																				0.413	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009841.1	NM_016311		19	29	0	0	0	1	0	19	29				
SLC12A4	6560	broad.mit.edu	37	16	67983747	67983747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67983747G>A	ENST00000316341.3	-	13	1844	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	SLC12A4_ENST00000572037.1_Silent_p.G520G|SLC12A4_ENST00000422611.2_Silent_p.G570G|SLC12A4_ENST00000537830.2_Silent_p.G562G|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000541864.2_Silent_p.G537G|SLC12A4_ENST00000338335.3_Silent_p.G568G|SLC12A4_ENST00000576616.1_Silent_p.G568G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	568					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGATGAGGATGCCCAGCTCGG	0.632																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1708-1710)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						145.0	114.0	124.0					16																	67983747		2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67983747G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1704C>T	16.37:g.67983747G>A						SLC12A4_ENST00000338335.3_Silent_p.G568G|SLC12A4_ENST00000572037.1_Silent_p.G520G|SLC12A4_ENST00000537830.2_Silent_p.G562G|SLC12A4_ENST00000316341.3_Silent_p.G568G|SLC12A4_ENST00000541864.2_Silent_p.G537G|SLC12A4_ENST00000576616.1_Silent_p.G568G	p.G570G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	12	1749	-		Ovarian(137;0.192)	568					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.1710C>T	CCDS10855.1																																																																																				0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		4	20	0	0	0	1	0	4	20				
PCDHA10	56139	broad.mit.edu	37	5	140235801	140235801	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140235801G>A	ENST00000307360.5	+	1	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A56A|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A56A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.617																																						ENST00000307360.5																			2	Substitution - coding silent(2)	p.A56A(2)	breast(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(166-168)gcG>gcA									53.0	61.0	58.0					5																	140235801		2197	4268	6465	SO:0001819	synonymous_variant	0							g.chr5:140235801G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.168G>A	5.37:g.140235801G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A56A|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.A56A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	168	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.168G>A	CCDS54921.1																																																																																				0.617	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		46	53	0	0	0	1	0	46	53				
FAR1	84188	broad.mit.edu	37	11	13716359	13716359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13716359C>T	ENST00000354817.3	+	2	191	c.47C>T	c.(46-48)aCa>aTa	p.T16I		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	16					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTCCTCCTCACAGGAGCTACC	0.418																																						ENST00000354817.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(46-48)aCa>aTa		fatty acyl CoA reductase 1							121.0	105.0	110.0					11																	13716359		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13716359C>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.47C>T	11.37:g.13716359C>T	ENSP00000346874:p.Thr16Ile						p.T16I	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN			2	191	+			16					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.47C>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699317	0.88830	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.77358	-1.09;-1.09	5.46	5.46	0.80206	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.045650	0.85682	D	0.000000	D	0.90823	0.7118	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.967	D	0.92454	0.5972	10	0.72032	D	0.01	-14.2317	18.8824	0.92362	0.0:1.0:0.0:0.0	.	16;16	E7ETC1;Q8WVX9	.;FACR1_HUMAN	I	16	ENSP00000346874:T16I;ENSP00000437111:T16I	ENSP00000346874:T16I	T	+	2	0	FAR1	13672935	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.463000	0.80869	2.570000	0.86706	0.484000	0.47621	ACA		0.418	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		4	65	0	0	0	1	0	4	65				
RASD1	51655	broad.mit.edu	37	17	17398697	17398697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17398697C>T	ENST00000225688.3	-	2	799	c.588G>A	c.(586-588)aaG>aaA	p.K196K	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	196					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGCTGGGCAGCTTGGCCATGG	0.642																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(586-588)aaG>aaA		RAS, dexamethasone-induced 1							21.0	21.0	21.0					17																	17398697		2198	4299	6497	SO:0001819	synonymous_variant	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398697C>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.588G>A	17.37:g.17398697C>T						RASD1_ENST00000579152.1_3'UTR	p.K196K	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			2	799	-			196					B2R709|B4DFF4|Q9NYB4	Silent	SNP	ENST00000225688.3	37	c.588G>A	CCDS11185.1																																																																																				0.642	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		3	4	0	0	0	1	0	3	4				
SP8	221833	broad.mit.edu	37	7	20824833	20824833	+	Silent	SNP	G	G	A	rs374176171		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20824833G>A	ENST00000361443.4	-	3	786	c.549C>T	c.(547-549)caC>caT	p.H183H	SP8_ENST00000418710.2_Silent_p.H201H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	183					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ACTCGTACGGGTGCGCCATGC	0.716																																						ENST00000361443.4																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(547-549)caC>caT		Sp8 transcription factor		G	,	0,3646		0,0,1823	7.0	8.0	8.0		603,549	0.6	0.8	7		8	1,7243		0,1,3621	no	coding-synonymous,coding-synonymous	SP8	NM_182700.4,NM_198956.2	,	0,1,5444	AA,AG,GG		0.0138,0.0,0.0092	,	201/509,183/491	20824833	1,10889	1823	3622	5445	SO:0001819	synonymous_variant	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824833G>A		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.549C>T	7.37:g.20824833G>A						SP8_ENST00000418710.2_Silent_p.H201H	p.H183H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	786	-			183					Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	c.549C>T	CCDS5372.1																																																																																				0.716	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			3	10	0	0	0	1	0	3	10				
LOC101927079	101927079	broad.mit.edu	37	15	22332457	22332457	+	RNA	SNP	C	C	A	rs563746591		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22332457C>A	ENST00000558896.1	+	0	264																											TCTTCTGGGCCTATCATCTTC	0.363																																						ENST00000558896.1																			0																																																			0							g.chr15:22332457C>A																													15.37:g.22332457C>A														0	264	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.363	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			7	70	1	0	1.06961e-07	1	1.26574e-07	7	70				
CST9	128822	broad.mit.edu	37	20	23586319	23586319	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23586319C>A	ENST00000376971.3	-	1	194	c.183G>T	c.(181-183)caG>caT	p.Q61H		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	61						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CCTCCTTGCTCTGCACGTTGA	0.507																																						ENST00000376971.3																			0				central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(181-183)caG>caT		cystatin 9 (testatin)							274.0	216.0	236.0					20																	23586319		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23586319C>A	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.183G>T	20.37:g.23586319C>A	ENSP00000366170:p.Gln61His						p.Q61H	NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN			1	194	-	Colorectal(13;0.0993)		61					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.183G>T	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795026	0.31777	.	.	ENSG00000173335	ENST00000376971	T	0.28454	1.61	3.06	0.98	0.19750	Proteinase inhibitor I25, cystatin (1);	2.105100	0.02942	N	0.140589	T	0.42765	0.1217	L	0.33245	0.995	0.09310	N	1	D	0.71674	0.998	D	0.72982	0.979	T	0.22417	-1.0217	10	0.48119	T	0.1	.	5.4592	0.16607	0.233:0.5408:0.2263:0.0	.	61	Q5W186	CST9_HUMAN	H	61	ENSP00000366170:Q61H	ENSP00000366170:Q61H	Q	-	3	2	CST9	23534319	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.252000	0.18278	0.301000	0.22738	-0.302000	0.09304	CAG		0.507	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		14	199	1	0	1.52009e-12	1	1.91418e-12	14	199				
SGK223	157285	broad.mit.edu	37	8	8235357	8235357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8235357C>T	ENST00000520004.1	-	3	826	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SGK223_ENST00000330777.4_Missense_Mutation_p.V188M			Q86YV5	SG223_HUMAN		188							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCTTTGTGCACAGCCTTCTCC	0.602																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(562-564)Gtg>Atg									108.0	117.0	114.0					8																	8235357		1984	4149	6133	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8235357C>T																												ENST00000520004.1:c.562G>A	8.37:g.8235357C>T	ENSP00000428054:p.Val188Met					SGK223_ENST00000330777.4_Missense_Mutation_p.V188M	p.V188M			Q86YV5	SG223_HUMAN			3	826	-			188					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.562G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	3.958	-0.010853	0.07727	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56611	0.45;0.45	4.98	1.16	0.20824	.	0.450692	0.18760	N	0.131918	T	0.28400	0.0702	N	0.08118	0	0.09310	N	1	B	0.22080	0.064	B	0.09377	0.004	T	0.19160	-1.0314	10	0.72032	D	0.01	.	7.9336	0.29916	0.0:0.5399:0.0:0.4601	.	188	Q86YV5	SG223_HUMAN	M	188	ENSP00000330930:V188M;ENSP00000428054:V188M	ENSP00000330930:V188M	V	-	1	0	AC068353.1	8272767	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.486000	0.22340	0.082000	0.17018	-0.150000	0.13652	GTG		0.602	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			7	86	0	0	0	1	0	7	86				
KCTD21	283219	broad.mit.edu	37	11	77885172	77885172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885172G>A	ENST00000340067.3	-	2	707	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	143					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TGGCGTTGAAGACCTCCATGC	0.557																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(427-429)gtC>gtT		potassium channel tetramerization domain containing 21							146.0	124.0	132.0					11																	77885172		2200	4292	6492	SO:0001819	synonymous_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885172G>A	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.429C>T	11.37:g.77885172G>A						KCTD21-AS1_ENST00000600795.1_RNA	p.V143V	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	707	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		143					B4DTR0	Silent	SNP	ENST00000340067.3	37	c.429C>T	CCDS31645.1																																																																																				0.557	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		21	36	0	0	0	1	0	21	36				
ATG7	10533	broad.mit.edu	37	3	11468322	11468322	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468322G>T	ENST00000354449.3	+	18	2026	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Missense_Mutation_p.K640N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	667					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.K667N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTAGCCAAGGTGTTTAATT	0.348																																						ENST00000354449.3																			1	Substitution - Missense(1)	p.K667N(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1999-2001)aaG>aaT		autophagy related 7							112.0	105.0	107.0					3																	11468322		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11468322G>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2001G>T	3.37:g.11468322G>T	ENSP00000346437:p.Lys667Asn					ATG7_ENST00000354956.5_Missense_Mutation_p.K640N|ATG7_ENST00000446450.2_Intron	p.K667N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			18	2026	+			667					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.2001G>T	CCDS2605.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.06|15.06|15.06	2.721087|2.721087|2.721087	0.48728|0.48728|0.48728	.|.|.	.|.|.	ENSG00000197548|ENSG00000197548|ENSG00000197548	ENST00000446110|ENST00000354956;ENST00000354449;ENST00000414717|ENST00000427759	.|T;T|.	.|0.45668|.	.|0.89;1.55|.	5.97|5.97|5.97	3.86|3.86|3.86	0.44501|0.44501|0.44501	.|.|.	.|0.057686|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.57844|0.57844|0.57844	0.2081|0.2081|0.2081	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.50813|0.50813|0.50813	D|D|D	0.999899|0.999899|0.999899	.|B;B|.	.|0.32781|.	.|0.384;0.069|.	.|B;B|.	.|0.34931|.	.|0.192;0.03|.	T|T|T	0.54899|0.54899|0.54899	-0.8224|-0.8224|-0.8224	5|10|5	.|0.35671|.	.|T|.	.|0.21|.	-19.1263|-19.1263|-19.1263	11.2211|11.2211|11.2211	0.48855|0.48855|0.48855	0.2649:0.0:0.7351:0.0|0.2649:0.0:0.7351:0.0|0.2649:0.0:0.7351:0.0	.|.|.	.|640;667|.	.|O95352-2;O95352|.	.|.;ATG7_HUMAN|.	C|N|M	68|640;667;68|68	.|ENSP00000347042:K640N;ENSP00000346437:K667N|.	.|ENSP00000346437:K667N|.	G|K|R	+|+|+	1|3|2	0|2|0	ATG7|ATG7|ATG7	11443322|11443322|11443322	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.050000|1.050000|1.050000	0.30404|0.30404|0.30404	1.523000|1.523000|1.523000	0.49018|0.49018|0.49018	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGT|AAG|AGG		0.348	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		23	41	1	0	1.22574e-08	1	1.47244e-08	23	41				
FBXO30	84085	broad.mit.edu	37	6	146127372	146127372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127372C>T	ENST00000237281.4	-	2	336	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	57							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAAGGCACTCGTTCAAATGG	0.423																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(169-171)cGa>cAa		F-box protein 30							204.0	187.0	193.0					6																	146127372		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127372C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.170G>A	6.37:g.146127372C>T	ENSP00000237281:p.Arg57Gln						p.R57Q	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	336	-		Ovarian(120;0.0776)	57					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.170G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035743	0.54896	.	.	ENSG00000118496	ENST00000237281	T	0.25749	1.78	5.76	5.76	0.90799	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);	0.054804	0.64402	D	0.000001	T	0.31040	0.0784	L	0.39633	1.23	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.01319	-1.1386	10	0.13853	T	0.58	-11.9494	19.9659	0.97266	0.0:1.0:0.0:0.0	.	57	Q8TB52	FBX30_HUMAN	Q	57	ENSP00000237281:R57Q	ENSP00000237281:R57Q	R	-	2	0	FBXO30	146169065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.037000	0.70956	2.711000	0.92665	0.650000	0.86243	CGA		0.423	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			15	134	0	0	0	1	0	15	134				
NLRP12	91662	broad.mit.edu	37	19	54314193	54314193	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54314193G>C	ENST00000324134.6	-	3	888	c.720C>G	c.(718-720)ttC>ttG	p.F240L	NLRP12_ENST00000391772.1_Missense_Mutation_p.F240L|NLRP12_ENST00000391773.1_Missense_Mutation_p.F240L|NLRP12_ENST00000391775.3_Missense_Mutation_p.F240L|NLRP12_ENST00000354278.3_Missense_Mutation_p.F240L|NLRP12_ENST00000535162.1_Missense_Mutation_p.F240L|NLRP12_ENST00000345770.5_Missense_Mutation_p.F240L|NLRP12_ENST00000351894.4_Missense_Mutation_p.F240L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	240	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTGCCTTGGAAGAGCTTCC	0.577																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(718-720)ttC>ttG		NLR family, pyrin domain containing 12							73.0	53.0	60.0					19																	54314193		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314193G>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.720C>G	19.37:g.54314193G>C	ENSP00000319377:p.Phe240Leu					NLRP12_ENST00000535162.1_Missense_Mutation_p.F240L|NLRP12_ENST00000354278.3_Missense_Mutation_p.F240L|NLRP12_ENST00000391773.1_Missense_Mutation_p.F240L|NLRP12_ENST00000391775.3_Missense_Mutation_p.F240L|NLRP12_ENST00000345770.5_Missense_Mutation_p.F240L|NLRP12_ENST00000391772.1_Missense_Mutation_p.F240L|NLRP12_ENST00000351894.4_Missense_Mutation_p.F240L	p.F240L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	888	-	Ovarian(34;0.19)		240			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.720C>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593200	0.66219	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.47	2.34	0.29019	NACHT nucleoside triphosphatase (1);	0.161882	0.29684	N	0.011465	T	0.71913	0.3396	L	0.35414	1.06	0.80722	D	1	P;P;P;P	0.48407	0.91;0.91;0.91;0.858	P;P;P;P	0.45099	0.468;0.468;0.468;0.469	T	0.70241	-0.4926	10	0.66056	D	0.02	.	8.6457	0.34005	0.192:0.0:0.808:0.0	.	240;240;240;240	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	L	240	ENSP00000319377:F240L;ENSP00000438030:F240L;ENSP00000340473:F240L;ENSP00000346231:F240L;ENSP00000375655:F240L;ENSP00000375653:F240L;ENSP00000375652:F240L	ENSP00000319377:F240L	F	-	3	2	NLRP12	59006005	0.644000	0.27277	0.975000	0.42487	0.971000	0.66376	1.726000	0.38085	0.466000	0.27193	0.306000	0.20318	TTC		0.577	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		10	27	0	0	0	1	0	10	27				
COBL	23242	broad.mit.edu	37	7	51085263	51085263	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51085263C>T	ENST00000265136.7	-	13	3936	c.3771G>A	c.(3769-3771)gtG>gtA	p.V1257V	RP4-724E13.2_ENST00000582616.1_RNA|RP4-724E13.2_ENST00000420449.1_RNA|COBL_ENST00000395542.2_Silent_p.V1339V	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1257	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGAGCAAGGGCACCTGCAGGG	0.502																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4015-4017)gtG>gtA		cordon-bleu WH2 repeat protein							106.0	100.0	102.0					7																	51085263		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51085263C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3771G>A	7.37:g.51085263C>T						RP4-724E13.2_ENST00000420449.1_RNA|RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000265136.7_Silent_p.V1257V	p.V1339V			O75128	COBL_HUMAN			15	4201	-	Glioma(55;0.08)		1257					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.4017G>A	CCDS34637.1																																																																																				0.502	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		5	71	0	0	0	1	0	5	71				
LRRK2	120892	broad.mit.edu	37	12	40688680	40688680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40688680C>T	ENST00000298910.7	+	22	2900	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.R948*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	948					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTACTGAAGCGAAAAAGAAA	0.284																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2842-2844)Cga>Tga		leucine-rich repeat kinase 2							41.0	45.0	44.0					12																	40688680		2203	4283	6486	SO:0001587	stop_gained	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40688680C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2842C>T	12.37:g.40688680C>T	ENSP00000298910:p.Arg948*					LRRK2_ENST00000343742.2_Nonsense_Mutation_p.R948*	p.R948*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			22	2900	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	948					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	c.2842C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	37	6.503904	0.97620	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.52	0.0738	0.14392	.	0.485485	0.22113	N	0.064444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8062	0.78513	0.4742:0.5258:0.0:0.0	.	.	.	.	X	948	.	ENSP00000298910:R948X	R	+	1	2	LRRK2	38974947	0.005000	0.15991	0.003000	0.11579	0.286000	0.27126	-0.304000	0.08199	0.001000	0.14605	-1.669000	0.00746	CGA		0.284	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	19	0	0	0	1	0	6	19				
SOX4	6659	broad.mit.edu	37	6	21595157	21595157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:21595157G>T	ENST00000244745.1	+	1	1186	c.392G>T	c.(391-393)aGg>aTg	p.R131M	SOX4_ENST00000543472.1_Missense_Mutation_p.R131M	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	131					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TACCGGCCCAGGAAGAAGGTG	0.637																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(391-393)aGg>aTg		SRY (sex determining region Y)-box 4							21.0	26.0	25.0					6																	21595157		2202	4299	6501	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595157G>T	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.392G>T	6.37:g.21595157G>T	ENSP00000244745:p.Arg131Met					SOX4_ENST00000543472.1_Missense_Mutation_p.R131M	p.R131M	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1186	+	Ovarian(93;0.163)		131						Missense_Mutation	SNP	ENST00000244745.1	37	c.392G>T	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454901	0.63290	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.94687	-3.49;-3.49	4.47	3.58	0.41010	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.000000	0.64402	U	0.000001	D	0.95385	0.8502	L	0.61218	1.895	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.95544	0.8615	10	0.87932	D	0	.	13.1848	0.59675	0.0:0.1624:0.8376:0.0	.	131	Q06945	SOX4_HUMAN	M	131	ENSP00000244745:R131M;ENSP00000438412:R131M	ENSP00000244745:R131M	R	+	2	0	SOX4	21703136	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.179000	0.65043	0.813000	0.34350	0.305000	0.20034	AGG		0.637	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	11	1	0	0.000602214	1	0.000649039	4	11				
HDC	3067	broad.mit.edu	37	15	50555543	50555543	+	Silent	SNP	C	C	T	rs139287451	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50555543C>T	ENST00000267845.3	-	2	495	c.93G>A	c.(91-93)acG>acA	p.T31T	HDC_ENST00000543581.1_Silent_p.T31T	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0	Ala/Gly-rich.				respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GCACGTCTGGCGTCACACGTC	0.562																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(91-93)acG>acA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	T		0,4392		0,0,2196	97.0	86.0	89.0		93	-12.1	0.1	15	dbSNP_134	89	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	HDC	NM_002112.3		0,2,6489	TT,TC,CC		0.0233,0.0,0.0154		31/663	50555543	2,12980	2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50555543C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.93G>A	15.37:g.50555543C>T						HDC_ENST00000543581.1_Silent_p.T31T	p.T31T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	2	495	-		all_lung(180;0.0138)	31		T -> M (in dbSNP:rs17740607).				Silent	SNP	ENST00000267845.3	37	c.93G>A	CCDS10134.1																																																																																				0.562	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			27	34	0	0	0	1	0	27	34				
ZRANB3	84083	broad.mit.edu	37	2	136071064	136071064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136071064C>T	ENST00000264159.6	-	8	1077	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	ZRANB3_ENST00000401392.1_Missense_Mutation_p.A321T|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A321T	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	321	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTACCTTGGCAATAGCAGTT	0.353																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(961-963)Gcc>Acc		zinc finger, RAN-binding domain containing 3							136.0	129.0	131.0					2																	136071064		1859	4107	5966	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136071064C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.961G>A	2.37:g.136071064C>T	ENSP00000264159:p.Ala321Thr					ZRANB3_ENST00000264159.6_Missense_Mutation_p.A321T|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A321T	p.A321T			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	8	1173	-			321					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.961G>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287905	0.95517	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.92495	-3.05;-3.05;-3.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.97250	0.9897	10	0.66056	D	0.02	-10.6184	19.5115	0.95142	0.0:1.0:0.0:0.0	.	261;321;321	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	T	321;321;321;261	ENSP00000383979:A321T;ENSP00000264159:A321T;ENSP00000441320:A321T	ENSP00000264159:A321T	A	-	1	0	ZRANB3	135787534	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.113000	0.77095	2.630000	0.89119	0.460000	0.39030	GCC		0.353	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		4	78	0	0	0	1	0	4	78				
PLA2G4D	283748	broad.mit.edu	37	15	42360978	42360978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42360978G>A	ENST00000290472.3	-	20	2486	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	798	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCAGGGCCTGCAGGATGGCA	0.637																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(2392-2394)Cag>Tag		phospholipase A2, group IVD (cytosolic)							43.0	34.0	37.0					15																	42360978		2203	4299	6502	SO:0001587	stop_gained	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42360978G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.2392C>T	15.37:g.42360978G>A	ENSP00000290472:p.Gln798*						p.Q798*	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	20	2486	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	798			PLA2c.		Q8N176	Nonsense_Mutation	SNP	ENST00000290472.3	37	c.2392C>T	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063322	0.93898	.	.	ENSG00000159337	ENST00000290472	.	.	.	4.65	2.43	0.29744	.	0.657863	0.13446	N	0.387251	.	.	.	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-14.7693	9.5437	0.39268	0.0:0.1239:0.599:0.2771	.	.	.	.	X	798	.	ENSP00000290472:Q798X	Q	-	1	0	PLA2G4D	40148270	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	1.572000	0.36461	0.901000	0.36495	0.655000	0.94253	CAG		0.637	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		9	12	0	0	0	1	0	9	12				
USH2A	7399	broad.mit.edu	37	1	216108117	216108117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216108117G>T	ENST00000307340.3	-	38	7527	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	USH2A_ENST00000366943.2_Missense_Mutation_p.L2381M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2381	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGACATTCAGAAGGGTGTAG	0.323										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7141-7143)Ctg>Atg		Usher syndrome 2A (autosomal recessive, mild)							82.0	77.0	79.0					1																	216108117		2203	4298	6501	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216108117G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7141C>A	1.37:g.216108117G>T	ENSP00000305941:p.Leu2381Met	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L2381M	p.L2381M			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	38	7527	-			2381			Fibronectin type-III 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7141C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237069	0.58886	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13538	2.58;2.58	5.57	2.42	0.29668	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.229752	0.22007	N	0.065935	T	0.23766	0.0575	M	0.69823	2.125	0.29334	N	0.866473	D	0.60575	0.988	P	0.56398	0.797	T	0.05289	-1.0894	10	0.38643	T	0.18	.	5.7801	0.18301	0.0785:0.4293:0.3769:0.1153	.	2381	O75445	USH2A_HUMAN	M	2381	ENSP00000305941:L2381M;ENSP00000355910:L2381M	ENSP00000305941:L2381M	L	-	1	2	USH2A	214174740	0.998000	0.40836	0.656000	0.29637	0.980000	0.70556	0.375000	0.20518	0.667000	0.31107	0.655000	0.94253	CTG		0.323	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	75	1	0	0.00010058	1	0.000111121	12	75				
MYO7B	4648	broad.mit.edu	37	2	128367143	128367143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128367143G>T	ENST00000409816.2	+	22	2909	c.2877G>T	c.(2875-2877)gaG>gaT	p.E959D	MYO7B_ENST00000428314.1_Missense_Mutation_p.E959D|MYO7B_ENST00000389524.4_Missense_Mutation_p.E959D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	959						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATGGCGGAGGAGCCTGAGG	0.582																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2875-2877)gaG>gaT		myosin VIIB							44.0	54.0	50.0					2																	128367143		2089	4219	6308	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128367143G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2877G>T	2.37:g.128367143G>T	ENSP00000386461:p.Glu959Asp					MYO7B_ENST00000409816.2_Missense_Mutation_p.E959D|MYO7B_ENST00000428314.1_Missense_Mutation_p.E959D	p.E959D			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	23	2930	+	Colorectal(110;0.1)		959					Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2877G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217658	0.06101	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87571	-2.27;-2.27;-2.27	5.28	1.45	0.22620	.	0.595307	0.16515	N	0.211051	T	0.71693	0.3370	N	0.24115	0.695	0.09310	N	0.999992	B	0.14012	0.009	B	0.12156	0.007	T	0.52472	-0.8571	10	0.12103	T	0.63	.	2.8685	0.05609	0.1356:0.1237:0.485:0.2557	.	959	Q6PIF6	MYO7B_HUMAN	D	959	ENSP00000374175:E959D;ENSP00000415090:E959D;ENSP00000386461:E959D	ENSP00000374175:E959D	E	+	3	2	MYO7B	128083613	0.717000	0.27966	0.096000	0.21009	0.605000	0.37080	0.127000	0.15790	-0.004000	0.14419	-0.987000	0.02553	GAG		0.582	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	10	1	0	0.0381472	1	0.0390147	8	10				
NRF1	4899	broad.mit.edu	37	7	129357079	129357079	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129357079G>A	ENST00000393232.1	+	9	1203	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	NRF1_ENST00000539636.1_Silent_p.T201T|NRF1_ENST00000223190.4_Silent_p.T362T|NRF1_ENST00000393230.2_Silent_p.T362T|NRF1_ENST00000393231.3_Silent_p.T362T|NRF1_ENST00000311967.2_Silent_p.T362T|NRF1_ENST00000353868.4_Silent_p.T296T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	362	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATTGGGCCACGTTACAGGGAG	0.473																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1084-1086)acG>acA		nuclear respiratory factor 1							72.0	70.0	71.0					7																	129357079		2203	4300	6503	SO:0001819	synonymous_variant	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357079G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1086G>A	7.37:g.129357079G>A						NRF1_ENST00000539636.1_Silent_p.T201T|NRF1_ENST00000353868.4_Silent_p.T296T|NRF1_ENST00000223190.4_Silent_p.T362T|NRF1_ENST00000393231.3_Silent_p.T362T|NRF1_ENST00000393230.2_Silent_p.T362T|NRF1_ENST00000311967.2_Silent_p.T362T	p.T362T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			9	1203	+			362			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP	ENST00000393232.1	37	c.1086G>A	CCDS5813.2																																																																																				0.473	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		9	46	0	0	0	1	0	9	46				
ARCN1	372	broad.mit.edu	37	11	118471374	118471374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118471374C>T	ENST00000264028.4	+	10	1576	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	ARCN1_ENST00000359415.4_Missense_Mutation_p.P535L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.P406L	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	494	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAAACAGCCCCGTCAGGTTT	0.393																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(1603-1605)cCc>cTc		archain 1							171.0	179.0	176.0					11																	118471374		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118471374C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1481C>T	11.37:g.118471374C>T	ENSP00000264028:p.Pro494Leu					ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.P494L|ARCN1_ENST00000392859.3_Missense_Mutation_p.P406L	p.P535L			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	11	1769	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	494					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.1604C>T	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175271	0.78564	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.69306	-0.39;-0.39;-0.39	5.96	5.96	0.96718	Clathrin adaptor, mu subunit, C-terminal (3);	0.263447	0.45126	D	0.000400	T	0.76695	0.4023	M	0.87381	2.88	0.80722	D	1	B;B;B	0.18741	0.007;0.03;0.011	B;B;B	0.30316	0.021;0.114;0.015	T	0.73946	-0.3822	10	0.59425	D	0.04	-22.3373	20.422	0.99049	0.0:1.0:0.0:0.0	.	406;535;494	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	L	406;535;494	ENSP00000376599:P406L;ENSP00000352385:P535L;ENSP00000264028:P494L	ENSP00000264028:P494L	P	+	2	0	ARCN1	117976584	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.437000	0.80417	2.832000	0.97577	0.655000	0.94253	CCC		0.393	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			18	260	0	0	0	1	0	18	260				
BAZ2A	11176	broad.mit.edu	37	12	56994235	56994235	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56994235A>C	ENST00000551812.1	-	24	4841	c.4648T>G	c.(4648-4650)Ttg>Gtg	p.L1550V	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L1520V|BAZ2A_ENST00000179765.5_Missense_Mutation_p.L1518V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L1548V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1550					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGTAGGCCAAGTCTTCACGG	0.517																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(4552-4554)Ttg>Gtg		bromodomain adjacent to zinc finger domain, 2A							67.0	68.0	68.0					12																	56994235		1946	4134	6080	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56994235A>C	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4648T>G	12.37:g.56994235A>C	ENSP00000446880:p.Leu1550Val					BAZ2A_ENST00000549884.1_Missense_Mutation_p.L1548V|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L1520V|BAZ2A_ENST00000551812.1_Missense_Mutation_p.L1550V	p.L1518V			Q9UIF9	BAZ2A_HUMAN			25	4751	-			1550					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.4552T>G	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448795	0.63178	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.75050	-0.67;-0.67;-0.73;-0.9;-0.73	5.32	1.81	0.25067	.	0.000000	0.64402	D	0.000002	T	0.82235	0.4993	M	0.74647	2.275	0.50813	D	0.999898	D;D;D;D	0.89917	0.998;0.987;0.996;1.0	D;D;D;D	0.83275	0.99;0.937;0.932;0.996	T	0.79902	-0.1607	10	0.51188	T	0.08	-8.2338	7.8395	0.29389	0.68:0.0:0.32:0.0	.	1548;1546;1550;1523	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	V	1520;1518;1550;482;1548	ENSP00000368754:L1520V;ENSP00000179765:L1518V;ENSP00000446880:L1550V;ENSP00000448760:L482V;ENSP00000447941:L1548V	ENSP00000179765:L1518V	L	-	1	2	BAZ2A	55280502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.399000	0.34566	0.575000	0.29434	0.533000	0.62120	TTG		0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		24	36	0	0	0	1	0	24	36				
LRP1	4035	broad.mit.edu	37	12	57589899	57589899	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57589899C>A	ENST00000243077.3	+	55	9197	c.8731C>A	c.(8731-8733)Ctg>Atg	p.L2911M	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2911	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCACAGTTCCTGTGCAGCAG	0.662																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8731-8733)Ctg>Atg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						57.0	54.0	55.0					12																	57589899		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57589899C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8731C>A	12.37:g.57589899C>A	ENSP00000243077:p.Leu2911Met						p.L2911M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	55	9197	+			2911			LDL-receptor class A 20.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8731C>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	7.403	0.633063	0.14322	.	.	ENSG00000123384	ENST00000243077	D	0.95412	-3.7	4.54	4.54	0.55810	Growth factor, receptor (1);	0.559907	0.14998	N	0.286284	D	0.89746	0.6804	N	0.05383	-0.06	0.80722	D	1	B	0.13145	0.007	B	0.13407	0.009	D	0.85206	0.1018	10	0.45353	T	0.12	.	16.2181	0.82241	0.0:1.0:0.0:0.0	.	2911	Q07954	LRP1_HUMAN	M	2911	ENSP00000243077:L2911M	ENSP00000243077:L2911M	L	+	1	2	LRP1	55876166	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	0.916000	0.28651	2.334000	0.79466	0.655000	0.94253	CTG		0.662	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		7	45	1	0	0.00307968	1	0.00325696	7	45				
OR4K5	79317	broad.mit.edu	37	14	20389536	20389536	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389536C>A	ENST00000315915.4	+	1	796	c.771C>A	c.(769-771)atC>atA	p.I257I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCATCTTCATCTATGTGTGGC	0.408																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(769-771)atC>atA		olfactory receptor, family 4, subfamily K, member 5							222.0	235.0	230.0					14																	20389536		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389536C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.771C>A	14.37:g.20389536C>A							p.I257I	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	796	+	all_cancers(95;0.00108)		257					Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.771C>A	CCDS32024.1																																																																																				0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		62	193	1	0	1.40621e-15	1	1.80554e-15	62	193				
SRRD	402055	broad.mit.edu	37	22	26884027	26884027	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26884027G>A	ENST00000215917.7	+	3	297	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	95					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAAACATCTGGAACAACTGAA	0.478																																						ENST00000215917.6																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(283-285)Gaa>Aaa		SRR1 domain containing							39.0	39.0	39.0					22																	26884027		1844	4096	5940	SO:0001583	missense	402055				rhythmic process			g.chr22:26884027G>A	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.283G>A	22.37:g.26884027G>A	ENSP00000215917:p.Glu95Lys						p.E95K	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			3	297	+			95					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.283G>A	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706622	0.68615	.	.	ENSG00000100104	ENST00000215917	T	0.54071	0.59	4.79	2.58	0.30949	.	1.019460	0.07796	N	0.955685	T	0.54598	0.1868	L	0.58101	1.795	0.09310	N	1	P;P	0.52463	0.953;0.953	P;P	0.45195	0.473;0.473	T	0.47235	-0.9133	10	0.72032	D	0.01	-4.0446	11.1799	0.48623	0.0:0.3608:0.6392:0.0	.	95;88	Q9UH36;B4DF37	SRR1L_HUMAN;.	K	95	ENSP00000215917:E95K	ENSP00000215917:E95K	E	+	1	0	SRRD	25214027	0.723000	0.28027	0.011000	0.14972	0.414000	0.31173	2.127000	0.42035	0.663000	0.31027	0.655000	0.94253	GAA		0.478	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		16	11	0	0	0	1	0	16	11				
CHM	1121	broad.mit.edu	37	X	85218762	85218762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85218762C>A	ENST00000357749.2	-	5	639	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	CHM_ENST00000537751.1_Nonsense_Mutation_p.E56*|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	204					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTGGTATCTTCTGCTATAGGC	0.358																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(610-612)Gaa>Taa		choroideremia (Rab escort protein 1)							148.0	116.0	127.0					X																	85218762		2203	4300	6503	SO:0001587	stop_gained	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218762C>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.610G>T	X.37:g.85218762C>A	ENSP00000350386:p.Glu204*					CHM_ENST00000537751.1_Nonsense_Mutation_p.E56*|CHM_ENST00000467744.1_Intron	p.E204*	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			5	639	-		all_lung(315;5.41e-06)	204					A1L4D2|O43732	Nonsense_Mutation	SNP	ENST00000357749.2	37	c.610G>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171634	0.78452	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	.	.	.	4.35	3.46	0.39613	.	0.565824	0.19693	N	0.108203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-19.1256	11.0965	0.48147	0.0:0.8085:0.1915:0.0	.	.	.	.	X	204;56	.	ENSP00000350386:E204X	E	-	1	0	CHM	85105418	0.874000	0.30092	0.002000	0.10522	0.542000	0.35054	2.372000	0.44257	0.725000	0.32318	0.284000	0.19432	GAA		0.358	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		7	97	1	0	0.000157383	1	0.00017284	7	97				
CD226	10666	broad.mit.edu	37	18	67563180	67563180	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67563180C>T	ENST00000280200.4	-	4	752	c.484G>A	c.(484-486)Gca>Aca	p.A162T	CD226_ENST00000581982.1_Missense_Mutation_p.A7T|CD226_ENST00000577287.1_Missense_Mutation_p.A7T|CD226_ENST00000582621.1_Missense_Mutation_p.A162T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	162	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CACCTCACTGCCTGCACAGGC	0.488																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(484-486)Gca>Aca		CD226 molecule							111.0	94.0	100.0					18																	67563180		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563180C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.484G>A	18.37:g.67563180C>T	ENSP00000280200:p.Ala162Thr					CD226_ENST00000577287.1_Missense_Mutation_p.A7T|CD226_ENST00000582621.1_Missense_Mutation_p.A162T|CD226_ENST00000581982.1_Missense_Mutation_p.A7T	p.A162T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			4	752	-		Esophageal squamous(42;0.129)	162			Ig-like C2-type 2.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.484G>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751264	0.31046	.	.	ENSG00000150637	ENST00000280200	T	0.11930	2.73	4.82	-3.12	0.05282	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.821220	0.11502	N	0.557550	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38090	-0.9677	10	0.26408	T	0.33	.	3.6962	0.08365	0.0821:0.3875:0.1848:0.3457	.	162	Q15762	CD226_HUMAN	T	162	ENSP00000280200:A162T	ENSP00000280200:A162T	A	-	1	0	CD226	65714160	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.922000	0.04004	-0.505000	0.06568	-0.171000	0.13296	GCA		0.488	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		20	27	0	0	0	1	0	20	27				
THBS1	7057	broad.mit.edu	37	15	39883813	39883813	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39883813A>G	ENST00000260356.5	+	16	2686	c.2521A>G	c.(2521-2523)Aat>Gat	p.N841D	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	841					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTTGGAACACAATCCGGATCA	0.453																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2521-2523)Aat>Gat		thrombospondin 1	Becaplermin(DB00102)						229.0	200.0	210.0					15																	39883813		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39883813A>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2521A>G	15.37:g.39883813A>G	ENSP00000260356:p.Asn841Asp						p.N841D	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	16	2686	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	841					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2521A>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	30	5.050567	0.93740	.	.	ENSG00000137801	ENST00000260356	D	0.99070	-5.39	5.49	5.49	0.81192	.	0.000000	0.38436	N	0.001681	D	0.99411	0.9792	M	0.91300	3.195	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.98648	1.0678	10	0.72032	D	0.01	-27.0535	15.5702	0.76330	1.0:0.0:0.0:0.0	.	756;841	B4E3J7;P07996	.;TSP1_HUMAN	D	841	ENSP00000260356:N841D	ENSP00000260356:N841D	N	+	1	0	THBS1	37671105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.335000	0.96500	2.079000	0.62486	0.533000	0.62120	AAT		0.453	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		40	61	0	0	0	1	0	40	61				
ERBB3	2065	broad.mit.edu	37	12	56493456	56493456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56493456G>A	ENST00000267101.3	+	24	3304	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	ERBB3_ENST00000450146.2_Missense_Mutation_p.R312H|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.R196H|ERBB3_ENST00000549832.1_Missense_Mutation_p.R75H|ERBB3_ENST00000415288.2_Missense_Mutation_p.R896H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	955	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGAACATTCGCCCAACCTTT	0.493																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2863-2865)cGc>cAc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							92.0	85.0	87.0					12																	56493456		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56493456G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2864G>A	12.37:g.56493456G>A	ENSP00000267101:p.Arg955His					ERBB3_ENST00000415288.2_Missense_Mutation_p.R896H|ERBB3_ENST00000450146.2_Missense_Mutation_p.R312H|ERBB3_ENST00000553131.1_Missense_Mutation_p.R196H|ERBB3_ENST00000549832.1_Missense_Mutation_p.R75H	p.R955H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		24	3304	+			955			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2864G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642701	0.96704	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.96750	0.8939	H	0.98965	4.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97628	1.0140	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	896;75;955	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	H	955;312;896;78;196;75	ENSP00000267101:R955H;ENSP00000399178:R312H;ENSP00000408340:R896H;ENSP00000449129:R196H;ENSP00000448729:R75H	ENSP00000267101:R955H	R	+	2	0	ERBB3	54779723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.513000	0.98010	2.941000	0.99782	0.655000	0.94253	CGC		0.493	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			15	37	0	0	0	1	0	15	37				
IRS2	8660	broad.mit.edu	37	13	110434638	110434638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110434638C>T	ENST00000375856.3	-	1	4277	c.3763G>A	c.(3763-3765)Gcc>Acc	p.A1255T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1255					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGTCGATGGCGATGTAGTTG	0.711																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3763-3765)Gcc>Acc		insulin receptor substrate 2							14.0	15.0	14.0					13																	110434638		2111	4210	6321	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434638C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3763G>A	13.37:g.110434638C>T	ENSP00000365016:p.Ala1255Thr						p.A1255T	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4277	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1255					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3763G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240993	0.58995	.	.	ENSG00000185950	ENST00000375856	T	0.58358	0.34	3.46	3.46	0.39613	.	0.000000	0.85682	U	0.000000	T	0.66607	0.2806	M	0.62723	1.935	0.52099	D	0.999944	D	0.89917	1.0	D	0.77557	0.99	T	0.65948	-0.6044	10	0.34782	T	0.22	-21.2059	13.2844	0.60235	0.0:1.0:0.0:0.0	.	1255	Q9Y4H2	IRS2_HUMAN	T	1255	ENSP00000365016:A1255T	ENSP00000365016:A1255T	A	-	1	0	IRS2	109232639	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.224000	0.65288	1.771000	0.52183	0.462000	0.41574	GCC		0.711	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		7	8	0	0	0	1	0	7	8				
STOM	2040	broad.mit.edu	37	9	124111498	124111498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124111498G>A	ENST00000286713.2	-	5	442	c.425C>T	c.(424-426)gCa>gTa	p.A142V	STOM_ENST00000538954.1_Missense_Mutation_p.A91V|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	142					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		AAGACGGGTTGCTGAGTCAGC	0.473																																						ENST00000286713.2																			0				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6						c.(424-426)gCa>gTa		stomatin							203.0	168.0	180.0					9																	124111498		2203	4300	6503	SO:0001583	missense	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124111498G>A		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.425C>T	9.37:g.124111498G>A	ENSP00000286713:p.Ala142Val					STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.A91V	p.A142V	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	5	442	-			142					B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	ENST00000286713.2	37	c.425C>T	CCDS6830.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228925	0.79688	.	.	ENSG00000148175	ENST00000286713;ENST00000538954	D;D	0.99586	-6.23;-6.23	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	H	0.94771	3.58	0.80722	D	1	P	0.46578	0.88	B	0.37198	0.243	D	0.99925	1.1280	10	0.72032	D	0.01	.	18.5685	0.91126	0.0:0.0:1.0:0.0	.	142	P27105	STOM_HUMAN	V	142;91	ENSP00000286713:A142V;ENSP00000445764:A91V	ENSP00000286713:A142V	A	-	2	0	STOM	123151319	1.000000	0.71417	0.486000	0.27416	0.715000	0.41141	9.419000	0.97397	2.861000	0.98227	0.655000	0.94253	GCA		0.473	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099		15	26	0	0	0	1	0	15	26				
TPST1	8460	broad.mit.edu	37	7	65817504	65817504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65817504G>T	ENST00000304842.5	+	4	1482	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	353					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTATAAGGGAGAATTCCAACT	0.453																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1057-1059)Gaa>Taa		tyrosylprotein sulfotransferase 1							145.0	139.0	141.0					7																	65817504		2203	4300	6503	SO:0001587	stop_gained	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65817504G>T	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.1057G>T	7.37:g.65817504G>T	ENSP00000302413:p.Glu353*					TPST1_ENST00000480281.1_3'UTR	p.E353*	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			4	1482	+			353					A4D2M0|Q6FGM7	Nonsense_Mutation	SNP	ENST00000304842.5	37	c.1057G>T	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	42	9.781115	0.99263	.	.	ENSG00000169902	ENST00000304842	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-1.7566	13.9909	0.64367	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000302413:E353X	E	+	1	0	TPST1	65454939	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.806000	0.62569	2.770000	0.95276	0.650000	0.86243	GAA		0.453	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		43	150	1	0	4.18559e-23	1	5.53765e-23	43	150				
C12orf50	160419	broad.mit.edu	37	12	88379745	88379745	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379745G>A	ENST00000298699.2	-	11	1188	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	C12orf50_ENST00000550553.1_Silent_p.H297H	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	336										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTCTTTGAACGTGGATATAGG	0.473																																						ENST00000298699.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(1006-1008)caC>caT		chromosome 12 open reading frame 50							206.0	197.0	200.0					12																	88379745		2203	4300	6503	SO:0001819	synonymous_variant	160419							g.chr12:88379745G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1008C>T	12.37:g.88379745G>A						C12orf50_ENST00000550553.1_Silent_p.H297H	p.H336H	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			11	1188	-			336					Q6P674	Silent	SNP	ENST00000298699.2	37	c.1008C>T	CCDS9031.1																																																																																				0.473	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		9	128	0	0	0	1	0	9	128				
ZNF3	7551	broad.mit.edu	37	7	99669634	99669634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669634A>G	ENST00000424697.1	-	6	779	c.473T>C	c.(472-474)gTg>gCg	p.V158A	ZNF3_ENST00000299667.4_Missense_Mutation_p.V158A|ZNF3_ENST00000303915.6_Missense_Mutation_p.V158A|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	158					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTCAACTGTCACTTGACCAAA	0.453																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(472-474)gTg>gCg		zinc finger protein 3							143.0	137.0	139.0					7																	99669634		1886	4113	5999	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669634A>G	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.473T>C	7.37:g.99669634A>G	ENSP00000415358:p.Val158Ala					ZNF3_ENST00000424697.1_Missense_Mutation_p.V158A|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.V158A	p.V158A			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1440	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	158					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.473T>C	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	A	2.175	-0.388842	0.04932	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06294	3.32;3.32;3.32;5.18;5.33;5.33	4.71	2.26	0.28386	.	0.615846	0.14384	N	0.322944	T	0.03178	0.0093	N	0.12611	0.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48198	-0.9056	10	0.13853	T	0.58	-2.4208	6.1981	0.20561	0.7503:0.1618:0.0879:0.0	.	141;158	B3KRP4;P17036	.;ZNF3_HUMAN	A	158;158;158;122;158;158	ENSP00000415358:V158A;ENSP00000306372:V158A;ENSP00000299667:V158A;ENSP00000416088:V122A;ENSP00000405970:V158A;ENSP00000388042:V158A	ENSP00000299667:V158A	V	-	2	0	ZNF3	99507570	0.000000	0.05858	0.073000	0.20177	0.413000	0.31143	-0.141000	0.10327	0.383000	0.24910	0.482000	0.46254	GTG		0.453	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		19	252	0	0	0	1	0	19	252				
LONRF1	91694	broad.mit.edu	37	8	12594616	12594616	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12594616C>T	ENST00000398246.3	-	5	1216	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Missense_Mutation_p.V26I	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	383							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTCCTTTGACAGGCTCTGAA	0.388																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1147-1149)Gtc>Atc		LON peptidase N-terminal domain and ring finger 1							76.0	71.0	72.0					8																	12594616		1848	4092	5940	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594616C>T	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1147G>A	8.37:g.12594616C>T	ENSP00000381298:p.Val383Ile					LONRF1_ENST00000533751.1_Missense_Mutation_p.V26I	p.V383I	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	5	1216	-			383					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1147G>A	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497590	0.44455	.	.	ENSG00000154359	ENST00000398246;ENST00000533751	T;T	0.81078	0.97;-1.45	5.2	3.39	0.38822	.	0.379361	0.12964	U	0.424791	T	0.67449	0.2894	N	0.24115	0.695	0.29352	N	0.865262	B	0.15141	0.012	B	0.13407	0.009	T	0.57952	-0.7722	10	0.30078	T	0.28	-8.9143	9.4194	0.38541	0.0:0.7784:0.0:0.2216	.	383	Q17RB8	LONF1_HUMAN	I	383;26	ENSP00000381298:V383I;ENSP00000432130:V26I	ENSP00000381298:V383I	V	-	1	0	LONRF1	12638987	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.420000	0.34804	0.846000	0.35142	0.655000	0.94253	GTC		0.388	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		6	92	0	0	0	1	0	6	92				
PTGFRN	5738	broad.mit.edu	37	1	117509809	117509809	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509809G>A	ENST00000393203.2	+	6	2063	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	639	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GATGAGTTCCGCTATCGAATG	0.542																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1915-1917)cGc>cAc		prostaglandin F2 receptor inhibitor							142.0	138.0	140.0					1																	117509809		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117509809G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1916G>A	1.37:g.117509809G>A	ENSP00000376899:p.Arg639His					PTGFRN_ENST00000496699.1_3'UTR	p.R639H	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	6	2063	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	639			Ig-like C2-type 5.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1916G>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900442	0.92035	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.11604	2.76	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00322	-1.1818	10	0.66056	D	0.02	-25.38	17.0688	0.86567	0.0:0.0:1.0:0.0	.	639	Q9P2B2	FPRP_HUMAN	H	639;498	ENSP00000376899:R639H	ENSP00000376899:R639H	R	+	2	0	PTGFRN	117311332	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.786000	0.85741	2.700000	0.92200	0.650000	0.86243	CGC		0.542	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		37	43	0	0	0	1	0	37	43				
PLXNA1	5361	broad.mit.edu	37	3	126735848	126735848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126735848C>T	ENST00000393409.2	+	16	3244	c.3244C>T	c.(3244-3246)Cgg>Tgg	p.R1082W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1059W	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1082	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCCCGAATCCGGGCCAAGTA	0.637																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3175-3177)Cgg>Tgg		plexin A1							64.0	61.0	62.0					3																	126735848		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735848C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3244C>T	3.37:g.126735848C>T	ENSP00000377061:p.Arg1082Trp					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1082W	p.R1059W			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	16	3244	+			1082			IPT/TIG 3.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3175C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486283	0.63962	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.78364	-1.17;-1.17	3.99	3.99	0.46301	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000017	D	0.87014	0.6072	M	0.86740	2.835	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	D	0.87103	0.2180	10	0.56958	D	0.05	.	7.2607	0.26201	0.1673:0.7431:0.0:0.0896	.	1082	Q9UIW2	PLXA1_HUMAN	W	1082;1059	ENSP00000377061:R1082W;ENSP00000251772:R1059W	ENSP00000251772:R1059W	R	+	1	2	PLXNA1	128218538	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.898000	0.48672	2.064000	0.61679	0.491000	0.48974	CGG		0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		15	29	0	0	0	1	0	15	29				
KRT25	147183	broad.mit.edu	37	17	38911310	38911310	+	Missense_Mutation	SNP	G	G	A	rs141965826	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38911310G>A	ENST00000312150.4	-	1	274	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGGAGCCCCCGCTCATTCACA	0.572													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		16520	0.001		0.0	False		,,,				2504	0.0					ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(214-216)Cgg>Tgg		keratin 25		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	107.0	109.0		214	4.8	1.0	17	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KRT25	NM_181534.3	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	72/451	38911310	3,13003	2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38911310G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.214C>T	17.37:g.38911310G>A	ENSP00000310573:p.Arg72Trp						p.R72W	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			1	274	-		Breast(137;0.00526)	72			Gly-rich.|Head.			Missense_Mutation	SNP	ENST00000312150.4	37	c.214C>T	CCDS11373.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	15.13	2.741070	0.49151	2.27E-4	2.33E-4	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.82984	-1.67	5.76	4.8	0.61643	.	0.085593	0.51477	D	0.000095	T	0.70806	0.3266	N	0.08118	0	0.24296	N	0.995141	P	0.38473	0.633	B	0.41860	0.368	T	0.66536	-0.5899	10	0.62326	D	0.03	.	11.3159	0.49392	0.0:0.8031:0.1286:0.0683	.	72	Q7Z3Z0	K1C25_HUMAN	W	72	ENSP00000310573:R72W	ENSP00000310573:R72W	R	-	1	2	KRT25	36164836	0.019000	0.18553	1.000000	0.80357	0.779000	0.44077	0.664000	0.25068	1.453000	0.47775	-0.128000	0.14901	CGG		0.572	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		36	61	0	0	0	1	0	36	61				
BLNK	29760	broad.mit.edu	37	10	97964316	97964316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964316G>A	ENST00000224337.5	-	12	1015	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	BLNK_ENST00000371176.2_Nonsense_Mutation_p.Q269*|BLNK_ENST00000427367.2_Nonsense_Mutation_p.Q292*|BLNK_ENST00000413476.2_Nonsense_Mutation_p.Q292*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	292					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACTGGTGACTGCACAGCTTCT	0.423																																						ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.(874-876)Cag>Tag		B-cell linker							149.0	137.0	141.0					10																	97964316		2203	4300	6503	SO:0001587	stop_gained	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97964316G>A	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.874C>T	10.37:g.97964316G>A	ENSP00000224337:p.Gln292*					BLNK_ENST00000427367.2_Nonsense_Mutation_p.Q292*|BLNK_ENST00000371176.2_Nonsense_Mutation_p.Q269*|BLNK_ENST00000413476.2_Nonsense_Mutation_p.Q292*	p.Q292*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	12	1015	-		Colorectal(252;0.083)	292					O75498|O75499|Q2MD49	Nonsense_Mutation	SNP	ENST00000224337.5	37	c.874C>T	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229257	0.95173	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.64	4.72	0.59763	.	1.049550	0.07363	N	0.884475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.2963	13.9715	0.64242	0.0:0.1522:0.8478:0.0	.	.	.	.	X	292;269;292;292;187	.	ENSP00000224337:Q292X	Q	-	1	0	BLNK	97954306	0.072000	0.21174	0.055000	0.19348	0.950000	0.60333	2.855000	0.48333	1.488000	0.48433	0.561000	0.74099	CAG		0.423	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		33	49	0	0	0	1	0	33	49				
CHDC2	286464	broad.mit.edu	37	X	36090059	36090059	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:36090059C>A	ENST00000313548.4	+	3	347	c.161C>A	c.(160-162)gCt>gAt	p.A54D		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	54						integral component of membrane (GO:0016021)											TTCAATGATGCTGAACCTGCA	0.363																																						ENST00000378660.1																			0											c.(160-162)gCt>gAt		calponin homology domain containing 2							70.0	61.0	64.0					X																	36090059		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36090059C>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.161C>A	X.37:g.36090059C>A	ENSP00000324767:p.Ala54Asp					CHDC2_ENST00000313548.4_Missense_Mutation_p.A54D	p.A54D							3	349	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.161C>A	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306539	0.40795	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	3.79	2.02	0.26589	.	1.750830	0.03633	N	0.238152	T	0.25606	0.0623	N	0.19112	0.55	0.09310	N	1	P	0.50943	0.94	P	0.46144	0.505	T	0.14476	-1.0471	9	0.44086	T	0.13	-5.6663	5.376	0.16166	0.0:0.7333:0.0:0.2667	.	54	Q8N9S7	CX059_HUMAN	D	54	.	ENSP00000324767:A54D	A	+	2	0	CXorf59	35999980	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.110000	0.15437	0.404000	0.25506	-0.192000	0.12808	GCT		0.363	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		16	38	1	0	1.15919e-05	1	1.31461e-05	16	38				
ATP9B	374868	broad.mit.edu	37	18	77105535	77105535	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77105535G>A	ENST00000426216.2	+	22	2597	c.2580G>A	c.(2578-2580)ctG>ctA	p.L860L	ATP9B_ENST00000543761.1_Silent_p.L181L|ATP9B_ENST00000307671.7_Silent_p.L860L|RP11-800A18.4_ENST00000592906.1_RNA	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	860					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTGTGACACTGCTGCAGCAGC	0.607																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(2578-2580)ctG>ctA		ATPase, class II, type 9B							57.0	56.0	56.0					18																	77105535		2203	4300	6503	SO:0001819	synonymous_variant	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77105535G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2580G>A	18.37:g.77105535G>A						ATP9B_ENST00000543761.1_Silent_p.L181L|ATP9B_ENST00000307671.7_Silent_p.L860L	p.L860L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	22	2597	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	860					O60872|Q08AD8|Q08AD9	Silent	SNP	ENST00000426216.2	37	c.2580G>A	CCDS12014.1																																																																																				0.607	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		25	32	0	0	0	1	0	25	32				
MICU3	286097	broad.mit.edu	37	8	16956025	16956025	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16956025G>A	ENST00000318063.5	+	9	989	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	316						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R316H(1)									ACACTGAGACGTAACACAAGC	0.388																																						ENST00000318063.5																			1	Substitution - Missense(1)	p.R316H(1)	haematopoietic_and_lymphoid_tissue(1)								c.(946-948)cGt>cAt		mitochondrial calcium uptake family, member 3							172.0	163.0	166.0					8																	16956025		2203	4300	6503	SO:0001583	missense	286097							g.chr8:16956025G>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.947G>A	8.37:g.16956025G>A	ENSP00000321455:p.Arg316His						p.R316H	NM_181723.2	NP_859074.1					9	989	+								Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.947G>A	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.623949|4.623949	0.87460|0.87460	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.49720|.	0.77|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70404|0.70404	0.3220|0.3220	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	P|.	0.57101|.	0.813|.	T|T	0.66744|0.66744	-0.5846|-0.5846	10|5	0.12430|.	T|.	0.62|.	-23.6797|-23.6797	19.208|19.208	0.93742|0.93742	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	316|.	Q86XE3|.	EFHA2_HUMAN|.	H|I	316|161	ENSP00000321455:R316H|.	ENSP00000321455:R316H|.	R|V	+|+	2|1	0|0	EFHA2|EFHA2	17000396|17000396	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.966000|0.966000	0.64601|0.64601	5.888000|5.888000	0.69758|0.69758	2.619000|2.619000	0.88677|0.88677	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.388	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		73	121	0	0	0	1	0	73	121				
GALNT9	50614	broad.mit.edu	37	12	132688117	132688117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132688117C>T	ENST00000328957.8	-	7	1195	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	GALNT9_ENST00000541995.1_Missense_Mutation_p.R33H|GALNT9_ENST00000535228.1_Missense_Mutation_p.R150H|GALNT9_ENST00000397325.2_Missense_Mutation_p.R33H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	399					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTCGGCGGCGCGCAGGGCGTT	0.637																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1195-1197)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							74.0	87.0	82.0					12																	132688117		2181	4275	6456	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688117C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1196G>A	12.37:g.132688117C>T	ENSP00000329846:p.Arg399His					GALNT9_ENST00000397325.2_Missense_Mutation_p.R33H|GALNT9_ENST00000541995.1_Missense_Mutation_p.R33H|GALNT9_ENST00000535228.1_Missense_Mutation_p.R150H	p.R399H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	7	1195	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	399					Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1196G>A		.	.	.	.	.	.	.	.	.	.	c	28.9	4.957380	0.92726	.	.	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356;ENST00000542942	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;1.28	3.87	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.98	D	0.87617	0.2507	10	0.87932	D	0	.	16.1752	0.81845	0.0:1.0:0.0:0.0	.	150;399;256	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	H	33;399;150;33;33;33	ENSP00000380488:R33H;ENSP00000329846:R399H;ENSP00000439745:R150H;ENSP00000440544:R33H;ENSP00000444709:R33H;ENSP00000438221:R33H	ENSP00000329846:R399H	R	-	2	0	GALNT9	131254070	1.000000	0.71417	0.727000	0.30756	0.872000	0.50106	7.492000	0.81482	1.855000	0.53841	0.448000	0.29417	CGC		0.637	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		25	31	0	0	0	1	0	25	31				
HOOK1	51361	broad.mit.edu	37	1	60314120	60314120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60314120G>A	ENST00000371208.3	+	11	1320	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	HOOK1_ENST00000395561.2_Missense_Mutation_p.V313I|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	355	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCATAATACAGTCAGCTTAGA	0.328																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1063-1065)Gtc>Atc		hook microtubule-tethering protein 1							85.0	85.0	85.0					1																	60314120		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60314120G>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1063G>A	1.37:g.60314120G>A	ENSP00000360252:p.Val355Ile					HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.V313I	p.V355I	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			11	1320	+	all_cancers(7;0.000129)		355			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.1063G>A	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265385	0.80358	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.18960	2.18;2.18	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.72894	2.215	0.80722	D	1	P	0.51933	0.949	P	0.58331	0.837	T	0.04946	-1.0916	10	0.35671	T	0.21	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	355	Q9UJC3	HOOK1_HUMAN	I	355;313	ENSP00000360252:V355I;ENSP00000378928:V313I	ENSP00000360252:V355I	V	+	1	0	HOOK1	60086708	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.230000	0.95299	2.805000	0.96524	0.460000	0.39030	GTC		0.328	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		7	72	0	0	0	1	0	7	72				
DKC1	1736	broad.mit.edu	37	X	153994250	153994250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153994250G>T	ENST00000369550.5	+	4	450	c.240G>T	c.(238-240)aaG>aaT	p.K80N	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	80					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCTCTGAAGAGAGAGATTG	0.398									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(238-240)aaG>aaT		dyskeratosis congenita 1, dyskerin							156.0	135.0	142.0					X																	153994250		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994250G>T	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.240G>T	X.37:g.153994250G>T	ENSP00000358563:p.Lys80Asn						p.K80N	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			4	450	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		80					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.240G>T	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.89|11.89	1.773136|1.773136	0.31411|0.31411	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000437719|ENST00000369550;ENST00000413910	.|D;D	.|0.92048	.|-2.96;-2.96	5.88|5.88	5.03|5.03	0.67393|0.67393	.|Dyskerin-like (1);Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87030	.|0.6076	L|L	0.39326|0.39326	1.205|1.205	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B	.|0.17465	.|0.022;0.022	.|B;B	.|0.21360	.|0.015;0.034	.|T	.|0.81002	.|-0.1130	.|10	.|0.28530	.|T	.|0.3	-24.5411|-24.5411	9.3442|9.3442	0.38098|0.38098	0.1674:0.0:0.8326:0.0|0.1674:0.0:0.8326:0.0	.|.	.|80;80	.|A8MUT5;O60832	.|.;DKC1_HUMAN	X|N	66|80	.|ENSP00000358563:K80N;ENSP00000400542:K80N	.|ENSP00000358563:K80N	E|K	+|+	1|3	0|2	DKC1|DKC1	153647444|153647444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.743000|2.743000	0.47442|0.47442	1.254000|1.254000	0.44035|0.44035	0.600000|0.600000	0.82982|0.82982	GAG|AAG		0.398	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		31	68	1	0	8.16721e-17	1	1.05573e-16	31	68				
PPP3CC	5533	broad.mit.edu	37	8	22368598	22368598	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22368598G>T	ENST00000240139.5	+	5	811		c.e5-1		PPP3CC_ENST00000289963.8_Splice_Site|PPP3CC_ENST00000397775.3_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTTTTGTTAGGTCGAATCAA	0.388																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e5-1		protein phosphatase 3, catalytic subunit, gamma isozyme							172.0	155.0	161.0					8																	22368598		2203	4300	6503	SO:0001630	splice_region_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22368598G>T		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.485-1G>T	8.37:g.22368598G>T						PPP3CC_ENST00000397775.3_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site|PPP3CC_ENST00000289963.8_Splice_Site		NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	5	811	+		Prostate(55;0.104)						B4DRT5|Q9BSS6|Q9H4M5	Splice_Site	SNP	ENST00000240139.5	37		CCDS34859.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434855	0.83885	.	.	ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000522034;ENST00000521651	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0771	0.93167	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP3CC	22424543	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.791000	0.96007	0.655000	0.94253	.		0.388	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	Intron	6	91	1	0	1.12685e-05	1	1.27857e-05	6	91				
MEF2A	4205	broad.mit.edu	37	15	100185844	100185844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100185844C>T	ENST00000557785.1	+	4	482	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000338042.6_Missense_Mutation_p.L45F|MEF2A_ENST00000453228.2_Missense_Mutation_p.L45F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L45F|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000354410.5_Missense_Mutation_p.L45F	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	45	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGAAATAGCACTCATCATTTT	0.328																																						ENST00000354410.5																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(133-135)Ctc>Ttc		myocyte enhancer factor 2A							98.0	96.0	97.0					15																	100185844		1936	4156	6092	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100185844C>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.133C>T	15.37:g.100185844C>T	ENSP00000453441:p.Leu45Phe					MEF2A_ENST00000557785.1_Missense_Mutation_p.L45F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L45F|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000338042.6_Missense_Mutation_p.L45F|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000453228.2_Missense_Mutation_p.L45F|MEF2A_ENST00000558812.1_Intron	p.L45F	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	762	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		45			MADS-box.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.133C>T	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021391	0.93462	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042	D;D;D	0.86230	-2.09;-2.09;-2.09	5.19	5.19	0.71726	Transcription factor, MADS-box (6);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	M	0.89534	3.04	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.997	D	0.95764	0.8803	10	0.87932	D	0	-12.6846	18.7001	0.91617	0.0:1.0:0.0:0.0	.	45;45;45;45	Q02078;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.	F	45	ENSP00000404110:L45F;ENSP00000346389:L45F;ENSP00000337202:L45F	ENSP00000337202:L45F	L	+	1	0	MEF2A	98003367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.411000	0.81874	0.591000	0.81541	CTC		0.328	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			23	53	0	0	0	1	0	23	53				
ADAR	103	broad.mit.edu	37	1	154562663	154562663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154562663C>T	ENST00000368474.4	-	7	2692	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ADAR_ENST00000292205.5_Silent_p.K874K|ADAR_ENST00000368471.3_Silent_p.K536K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	831					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTTAACTGTCTTTGGCTGTG	0.537																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2491-2493)aaG>aaA		adenosine deaminase, RNA-specific							75.0	75.0	75.0					1																	154562663		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154562663C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2493G>A	1.37:g.154562663C>T						ADAR_ENST00000292205.5_Silent_p.K874K|ADAR_ENST00000368471.3_Silent_p.K536K	p.K831K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	7	2692	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		831					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.2493G>A	CCDS1071.1																																																																																				0.537	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		22	23	0	0	0	1	0	22	23				
SPAG16	79582	broad.mit.edu	37	2	214239746	214239746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:214239746G>A	ENST00000331683.5	+	9	940	c.845G>A	c.(844-846)cGt>cAt	p.R282H	SPAG16_ENST00000272898.7_Missense_Mutation_p.R282H|SPAG16_ENST00000447990.1_Missense_Mutation_p.R282H|SPAG16_ENST00000374309.3_Missense_Mutation_p.R188H	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	282					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATCATAGTCGTGAAAAAGAA	0.323																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(844-846)cGt>cAt		sperm associated antigen 16							67.0	64.0	65.0					2																	214239746		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214239746G>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.845G>A	2.37:g.214239746G>A	ENSP00000332592:p.Arg282His					SPAG16_ENST00000374309.3_Missense_Mutation_p.R188H|SPAG16_ENST00000272898.7_Missense_Mutation_p.R282H|SPAG16_ENST00000447990.1_Missense_Mutation_p.R282H	p.R282H	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	9	940	+		Renal(323;0.00461)	282					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.845G>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091268	0.20471	.	.	ENSG00000144451	ENST00000331683;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.57752	0.45;0.38	5.0	-4.42	0.03579	WD40/YVTN repeat-like-containing domain (1);	1.205720	0.05592	N	0.574911	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B;P;P;B	0.50156	0.056;0.932;0.733;0.056	B;B;B;B	0.40636	0.007;0.335;0.092;0.009	T	0.12344	-1.0551	10	0.14252	T	0.57	.	0.5328	0.00631	0.2953:0.1138:0.2426:0.3482	.	188;133;222;282	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	H	282;282;282;188	ENSP00000332592:R282H;ENSP00000363428:R188H	ENSP00000272898:R282H	R	+	2	0	SPAG16	213947991	0.009000	0.17119	0.000000	0.03702	0.005000	0.04900	-0.258000	0.08733	-1.350000	0.02199	-0.291000	0.09656	CGT		0.323	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		12	24	0	0	0	1	0	12	24				
MGAM	8972	broad.mit.edu	37	7	141759732	141759732	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141759732A>C	ENST00000549489.2	+	33	4120	c.4025A>C	c.(4024-4026)aAa>aCa	p.K1342T	MGAM_ENST00000475668.2_Missense_Mutation_p.K1342T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1342	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCTTCATCAAATACCCAAAT	0.498																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4024-4026)aAa>aCa		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						44.0	38.0	40.0					7																	141759732		1932	4141	6073	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759732A>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4025A>C	7.37:g.141759732A>C	ENSP00000447378:p.Lys1342Thr					MGAM_ENST00000549489.2_Missense_Mutation_p.K1342T	p.K1342T			O43451	MGA_HUMAN			33	4079	+	Melanoma(164;0.0272)		1342			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4025A>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	a	6.627	0.484218	0.12581	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93247	-3.19	4.21	0.502	0.16932	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.94301	0.8169	M	0.80847	2.515	0.24481	N	0.994344	B	0.34349	0.45	P	0.47744	0.556	D	0.88192	0.2878	9	0.45353	T	0.12	.	7.2994	0.26411	0.6995:0.0:0.3005:0.0	.	1342	O43451	MGA_HUMAN	T	1342;1342;1219	ENSP00000447378:K1342T	ENSP00000316431:K1219T	K	+	2	0	MGAM	141406201	1.000000	0.71417	0.288000	0.24862	0.164000	0.22412	3.446000	0.52928	0.079000	0.16929	-1.285000	0.01374	AAA		0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	8	0	0	0	1	0	10	8				
ANKRD27	84079	broad.mit.edu	37	19	33092956	33092956	+	Missense_Mutation	SNP	C	C	T	rs199758720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33092956C>T	ENST00000306065.4	-	26	2890	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	911					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATACTCCTTGCGGTCAGTTTC	0.383																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2731-2733)cGc>cAc		ankyrin repeat domain 27 (VPS9 domain)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	165.0	151.0	156.0		2732	-2.9	0.0	19		156	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ANKRD27	NM_032139.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	911/1051	33092956	3,13003	2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33092956C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2732G>A	19.37:g.33092956C>T	ENSP00000304292:p.Arg911His						p.R911H	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			26	2890	-	Esophageal squamous(110;0.137)		911					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2732G>A	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	1.135	-0.651329	0.03506	2.27E-4	2.33E-4	ENSG00000105186	ENST00000306065	T	0.62105	0.05	5.56	-2.91	0.05631	.	0.815808	0.11049	N	0.605243	T	0.30293	0.0760	N	0.04880	-0.145	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	10	0.08837	T	0.75	-1.4801	6.3459	0.21349	0.0:0.3943:0.2509:0.3548	.	911	Q96NW4	ANR27_HUMAN	H	911	ENSP00000304292:R911H	ENSP00000304292:R911H	R	-	2	0	ANKRD27	37784796	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	-0.502000	0.06390	-0.447000	0.07138	-0.312000	0.09012	CGC		0.383	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		37	102	0	0	0	1	0	37	102				
C2orf44	80304	broad.mit.edu	37	2	24262192	24262192	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24262192T>A	ENST00000295148.4	-	2	230	c.173A>T	c.(172-174)gAa>gTa	p.E58V	C2orf44_ENST00000406895.3_Missense_Mutation_p.E58V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	58									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGACACATTCAAACTGTCC	0.522			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(172-174)gAa>gTa		chromosome 2 open reading frame 44							129.0	110.0	117.0					2																	24262192		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262192T>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.173A>T	2.37:g.24262192T>A	ENSP00000295148:p.Glu58Val					C2orf44_ENST00000406895.3_Missense_Mutation_p.E58V	p.E58V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	230	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		58					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.173A>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163582	0.78226	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.59083	0.29;0.29;0.29	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78473	-0.2190	10	0.87932	D	0	-14.8491	15.4386	0.75165	0.0:0.0:0.0:1.0	.	58;58	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	V	58	ENSP00000295148:E58V;ENSP00000385816:E58V;ENSP00000413426:E58V	ENSP00000295148:E58V	E	-	2	0	C2orf44	24115696	1.000000	0.71417	0.737000	0.30932	0.649000	0.38597	5.181000	0.65054	2.115000	0.64714	0.533000	0.62120	GAA		0.522	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		17	43	0	0	0	1	0	17	43				
ZNF486	90649	broad.mit.edu	37	19	20295172	20295172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20295172T>C	ENST00000335117.8	+	2	95	c.38T>C	c.(37-39)tTg>tCg	p.L13S	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.L13S	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGAATCATTGCAATTTAGA	0.403																																						ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(37-39)tTg>tCg		zinc finger protein 486							172.0	220.0	203.0					19																	20295172		1505	2705	4210	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20295172T>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.38T>C	19.37:g.20295172T>C	ENSP00000335042:p.Leu13Ser					ZNF486_ENST00000597083.1_Missense_Mutation_p.L13S|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	p.L13S	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			2	95	+			13			KRAB.		Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.38T>C	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	t	9.971	1.225350	0.22457	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.00922	5.54	0.81	0.81	0.18732	Krueppel-associated box (3);	.	.	.	.	T	0.06962	0.0177	H	0.95884	3.735	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15867	-1.0422	9	0.87932	D	0	.	3.7212	0.08457	0.0:0.0:0.0:1.0	.	13	Q96H40	ZN486_HUMAN	S	52;13	ENSP00000335042:L13S	ENSP00000335042:L13S	L	+	2	0	ZNF486	20156172	0.003000	0.15002	0.025000	0.17156	0.025000	0.11179	1.735000	0.38176	0.156000	0.19299	0.155000	0.16302	TTG		0.403	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		12	165	0	0	0	1	0	12	165				
MYO6	4646	broad.mit.edu	37	6	76582984	76582984	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76582984G>A	ENST00000369977.3	+	20	2183	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Missense_Mutation_p.G682S|MYO6_ENST00000369975.1_Missense_Mutation_p.G682S|MYO6_ENST00000369985.4_Missense_Mutation_p.G682S	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	682	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCACTTTGAAGGTGCTCAAAT	0.358																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2044-2046)Ggt>Agt		myosin VI							161.0	137.0	145.0					6																	76582984		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76582984G>A	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2044G>A	6.37:g.76582984G>A	ENSP00000358994:p.Gly682Ser					MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Missense_Mutation_p.G682S|MYO6_ENST00000369985.4_Missense_Mutation_p.G682S|MYO6_ENST00000369977.3_Missense_Mutation_p.G682S	p.G682S			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	20	2323	+		all_hematologic(105;0.189)	682			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2044G>A	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	34	5.366038	0.95900	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89609	0.3840	10	0.46703	T	0.11	.	18.3295	0.90263	0.0:0.0:1.0:0.0	.	682;682	Q9UM54-2;Q9UM54-1	.;.	S	682	ENSP00000358998:G682S;ENSP00000359002:G682S;ENSP00000358994:G682S;ENSP00000358992:G682S	ENSP00000358992:G682S	G	+	1	0	MYO6	76639704	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.125000	0.94402	2.409000	0.81822	0.650000	0.86243	GGT		0.358	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		11	30	0	0	0	1	0	11	30				
EVA1C	59271	broad.mit.edu	37	21	33829975	33829975	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33829975A>G	ENST00000300255.2	+	3	901	c.428A>G	c.(427-429)gAc>gGc	p.D143G	EVA1C_ENST00000401402.3_Missense_Mutation_p.D143G|EVA1C_ENST00000382699.3_Missense_Mutation_p.D143G	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	143	SUEL-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTTGGACCTGACCTTTGTCCA	0.527																																						ENST00000300255.2																			0											c.(427-429)gAc>gGc		eva-1 homolog C (C. elegans)							120.0	100.0	107.0					21																	33829975		2203	4300	6503	SO:0001583	missense	59271							g.chr21:33829975A>G	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.428A>G	21.37:g.33829975A>G	ENSP00000300255:p.Asp143Gly					EVA1C_ENST00000382699.3_Missense_Mutation_p.D143G|EVA1C_ENST00000401402.3_Missense_Mutation_p.D143G	p.D143G	NM_058187.3	NP_478067.2					3	901	+								A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.428A>G	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635428	0.87760	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.07	5.07	0.68467	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.77199	-0.2675	10	0.72032	D	0.01	-14.9442	14.856	0.70338	1.0:0.0:0.0:0.0	.	143;143;143	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	G	143;143;143;48	ENSP00000300255:D143G;ENSP00000384594:D143G;ENSP00000372146:D143G;ENSP00000389269:D48G	ENSP00000300255:D143G	D	+	2	0	C21orf63	32751846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.933000	0.92911	1.905000	0.55150	0.379000	0.24179	GAC		0.527	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		35	44	0	0	0	1	0	35	44				
SYNM	23336	broad.mit.edu	37	15	99673044	99673044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99673044G>A	ENST00000560674.1	+	5	3154	c.2685G>A	c.(2683-2685)gcG>gcA	p.A895A	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.A1180A|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Silent_p.A1492A			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1493	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAGAGACGCGGACAGTAGGA	0.577																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4474-4476)gcG>gcA		synemin, intermediate filament protein							111.0	117.0	115.0					15																	99673044		2037	4191	6228	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99673044G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2685G>A	15.37:g.99673044G>A						SYNM_ENST00000560674.1_Silent_p.A895A|SYNM_ENST00000328642.7_Silent_p.A1180A|SYNM_ENST00000561323.1_3'UTR	p.A1492A	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4596	+			1493			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.4476G>A																																																																																					0.577	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		5	129	0	0	0	1	0	5	129				
LRRC16A	55604	broad.mit.edu	37	6	25280063	25280063	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25280063G>T	ENST00000329474.6	+	1	408	c.40G>T	c.(40-42)Gaa>Taa	p.E14*	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	14					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGAGTTGATAGGTAAGATTCA	0.552																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.e1+1		leucine rich repeat containing 16A							230.0	261.0	251.0					6																	25280063		2051	4179	6230	SO:0001630	splice_region_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25280063G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.40+1G>T	6.37:g.25280063G>T						LRRC16A_ENST00000377969.3_5'UTR	p.E14_splice	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			1	408	+			14					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Splice_Site	SNP	ENST00000329474.6	37	c.40_splice	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	41	8.717007	0.98927	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	4.14	4.14	0.48551	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.3373	0.74266	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000331983:E14X	E	+	1	0	LRRC16A	25388042	1.000000	0.71417	0.930000	0.37139	0.958000	0.62258	4.643000	0.61390	2.126000	0.65437	0.655000	0.94253	GAA		0.552	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	Nonsense_Mutation	9	102	1	0	1.08611e-07	1	1.2824e-07	9	102				
LARS	51520	broad.mit.edu	37	5	145523015	145523015	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145523015C>A	ENST00000394434.2	-	19	2003	c.1837G>T	c.(1837-1839)Ggt>Tgt	p.G613C	LARS_ENST00000274562.9_Missense_Mutation_p.G586C|LARS_ENST00000510191.1_Missense_Mutation_p.G559C|LARS_ENST00000545646.1_Missense_Mutation_p.G567C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGCAAGTTACCCCCCTGCAAT	0.453																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1837-1839)Ggt>Tgt		leucyl-tRNA synthetase	L-Leucine(DB00149)						194.0	189.0	191.0					5																	145523015		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145523015C>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1837G>T	5.37:g.145523015C>A	ENSP00000377954:p.Gly613Cys					LARS_ENST00000545646.1_Missense_Mutation_p.G567C|LARS_ENST00000274562.9_Missense_Mutation_p.G586C|LARS_ENST00000510191.1_Missense_Mutation_p.G559C	p.G613C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2003	-			613					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1837G>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116104	0.77323	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.64	4.77	0.60923	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.305578	0.40640	N	0.001057	T	0.67306	0.2879	H	0.94345	3.525	0.58432	D	0.999999	P;P;P	0.49185	0.92;0.858;0.716	D;P;P	0.64506	0.926;0.629;0.759	T	0.75202	-0.3401	10	0.72032	D	0.01	-9.3552	11.3026	0.49316	0.0:0.8597:0.0:0.1403	.	586;567;613	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	C	613;567;559;586	ENSP00000377954:G613C;ENSP00000437791:G567C;ENSP00000426005:G559C;ENSP00000274562:G586C	ENSP00000274562:G586C	G	-	1	0	LARS	145503208	0.091000	0.21658	0.995000	0.50966	0.837000	0.47467	3.162000	0.50755	1.532000	0.49169	0.650000	0.86243	GGT		0.453	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		11	166	1	0	1.08611e-07	1	1.2824e-07	11	166				
FOXF2	2295	broad.mit.edu	37	6	1394964	1394964	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1394964C>A	ENST00000259806.1	+	2	1319	c.1205C>A	c.(1204-1206)cCa>cAa	p.P402Q		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	402					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CACTCTACTCCAGTGTGTGAC	0.463																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(1204-1206)cCa>cAa		forkhead box F2							195.0	172.0	180.0					6																	1394964		2203	4300	6503	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1394964C>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1205C>A	6.37:g.1394964C>A	ENSP00000259806:p.Pro402Gln						p.P402Q	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	2	1319	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	402					Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.1205C>A	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598826	0.87055	.	.	ENSG00000137273	ENST00000259806	D	0.93019	-3.15	5.66	5.66	0.87406	.	0.153252	0.43110	D	0.000608	D	0.91123	0.7205	L	0.45581	1.43	0.52099	D	0.999946	P	0.45396	0.857	P	0.45971	0.499	D	0.91527	0.5239	10	0.52906	T	0.07	.	18.7482	0.91802	0.0:1.0:0.0:0.0	.	402	Q12947	FOXF2_HUMAN	Q	402	ENSP00000259806:P402Q	ENSP00000259806:P402Q	P	+	2	0	FOXF2	1339963	0.995000	0.38212	0.992000	0.48379	0.992000	0.81027	6.032000	0.70918	2.666000	0.90696	0.655000	0.94253	CCA		0.463	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			47	55	1	0	1.47857e-17	1	1.91928e-17	47	55				
SLC43A2	124935	broad.mit.edu	37	17	1489322	1489322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1489322C>T	ENST00000301335.5	-	10	1190	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SLC43A2_ENST00000412517.3_Missense_Mutation_p.G231S|SLC43A2_ENST00000571650.1_Missense_Mutation_p.G372S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.G372S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	368					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGAGCACGCCGAAGATGGAG	0.647																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1114-1116)Ggc>Agc		solute carrier family 43 (amino acid system L transporter), member 2							23.0	17.0	19.0					17																	1489322		2202	4300	6502	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1489322C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1102G>A	17.37:g.1489322C>T	ENSP00000301335:p.Gly368Ser					SLC43A2_ENST00000301335.4_Missense_Mutation_p.G368S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.G231S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.G372S	p.G372S			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	11	1420	-			368					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1114G>A	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	C	36	5.878609	0.97055	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;D	0.81996	0.3;0.3;-1.56	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90803	0.7112	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.994	D	0.87191	0.2234	10	0.20046	T	0.44	-31.9823	19.2052	0.93728	0.0:1.0:0.0:0.0	.	231;368;368;372	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	S	368;372;231	ENSP00000301335:G368S;ENSP00000371582:G372S;ENSP00000408284:G231S	ENSP00000301335:G368S	G	-	1	0	SLC43A2	1436072	1.000000	0.71417	0.939000	0.37840	0.867000	0.49689	7.776000	0.85560	2.850000	0.98022	0.655000	0.94253	GGC		0.647	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		5	10	0	0	0	1	0	5	10				
MEIS1	4211	broad.mit.edu	37	2	66664997	66664997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:66664997G>A	ENST00000272369.9	+	2	598	c.141G>A	c.(139-141)tcG>tcA	p.S47S	MEIS1_ENST00000488550.1_Silent_p.S47S|MEIS1_ENST00000398506.2_Silent_p.S45S|MEIS1_ENST00000407092.2_Silent_p.S47S|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000495021.2_5'Flank|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000444274.2_Silent_p.S15S|MEIS1_ENST00000560281.2_Silent_p.S47S	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	47					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTCTGCACTCGCATCAGTACC	0.577																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(139-141)tcG>tcA		Meis homeobox 1							41.0	45.0	44.0					2																	66664997		2110	4243	6353	SO:0001819	synonymous_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66664997G>A		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.141G>A	2.37:g.66664997G>A						MEIS1_ENST00000398506.2_Silent_p.S45S|MEIS1_ENST00000407092.2_Silent_p.S47S|MEIS1_ENST00000444274.2_Silent_p.S15S|MEIS1_ENST00000272369.9_Silent_p.S47S|MEIS1_ENST00000560281.2_Silent_p.S47S	p.S47S			O00470	MEIS1_HUMAN			2	440	+			47					A8MV50	Silent	SNP	ENST00000272369.9	37	c.141G>A	CCDS46309.1																																																																																				0.577	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		9	7	0	0	0	1	0	9	7				
DPP3	10072	broad.mit.edu	37	11	66260231	66260231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260231C>T	ENST00000360510.2	+	10	1098	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DPP3_ENST00000532677.1_Missense_Mutation_p.R364W|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.R365W|DPP3_ENST00000530165.1_Missense_Mutation_p.R315W|DPP3_ENST00000541961.1_Missense_Mutation_p.R345W|DPP3_ENST00000453114.1_Missense_Mutation_p.R345W			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	345					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CAAGTTTGAGCGGCTGGTGGC	0.607																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1090-1092)Cgg>Tgg		dipeptidyl-peptidase 3							108.0	101.0	103.0					11																	66260231		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260231C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1033C>T	11.37:g.66260231C>T	ENSP00000353701:p.Arg345Trp					DPP3_ENST00000541961.1_Missense_Mutation_p.R345W|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.R345W|DPP3_ENST00000360510.2_Missense_Mutation_p.R345W|DPP3_ENST00000530165.1_Missense_Mutation_p.R315W|DPP3_ENST00000531863.1_Missense_Mutation_p.R365W	p.R364W	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			10	1491	+			345					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1090C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523421	0.44866	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.41	3.3	0.37823	.	0.311822	0.35870	N	0.002931	T	0.21718	0.0523	L	0.42245	1.32	0.33974	D	0.647203	B;B	0.11235	0.004;0.002	B;B	0.08055	0.003;0.001	T	0.14392	-1.0474	10	0.66056	D	0.02	.	9.8856	0.41260	0.0:0.8563:0.0:0.1437	.	364;345	G3V1D3;Q9NY33	.;DPP3_HUMAN	W	365;364;345;345;345;315;243	ENSP00000432782:R365W;ENSP00000435284:R364W;ENSP00000353701:R345W;ENSP00000389943:R345W;ENSP00000440502:R345W;ENSP00000436941:R315W	ENSP00000353701:R345W	R	+	1	2	DPP3	66016807	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	1.762000	0.38451	0.455000	0.26910	0.655000	0.94253	CGG		0.607	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			26	55	0	0	0	1	0	26	55				
TPR	7175	broad.mit.edu	37	1	186329453	186329453	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329453A>G	ENST00000367478.4	-	11	1439	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	381					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTGCTGCAGTAGGAGACA	0.368			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1141-1143)acT>acC		translocated promoter region, nuclear basket protein							76.0	77.0	77.0					1																	186329453		1850	4107	5957	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329453A>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1143T>C	1.37:g.186329453A>G						TPR_ENST00000474852.1_5'UTR	p.T381T	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	11	1439	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	381					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1143T>C	CCDS41446.1																																																																																				0.368	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		4	55	0	0	0	1	0	4	55				
LHCGR	3973	broad.mit.edu	37	2	48936113	48936113	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48936113G>A	ENST00000294954.7	-	8	675	c.654C>T	c.(652-654)ttC>ttT	p.F218F	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.F218F|LHCGR_ENST00000401907.1_Silent_p.F218F|LHCGR_ENST00000403273.1_Silent_p.F218F|LHCGR_ENST00000405626.1_Silent_p.F218F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	218					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCCCCACGGAAGGCTCCAT	0.537																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(652-654)ttC>ttT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						233.0	201.0	212.0					2																	48936113		2203	4300	6503	SO:0001819	synonymous_variant	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48936113G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.654C>T	2.37:g.48936113G>A						STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.F218F|LHCGR_ENST00000401907.1_Silent_p.F218F|LHCGR_ENST00000405626.1_Silent_p.F218F|LHCGR_ENST00000403273.1_Silent_p.F218F	p.F218F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	675	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	218					Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	c.654C>T	CCDS1842.1																																																																																				0.537	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		41	69	0	0	0	1	0	41	69				
ZNF583	147949	broad.mit.edu	37	19	56935667	56935667	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56935667T>C	ENST00000333201.9	+	5	1850	c.1640T>C	c.(1639-1641)tTc>tCc	p.F547S	ZNF583_ENST00000291598.7_Missense_Mutation_p.F547S|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		atggagtcattcttgactctt	0.428																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1639-1641)tTc>tCc		zinc finger protein 583							86.0	81.0	82.0					19																	56935667		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935667T>C	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1640T>C	19.37:g.56935667T>C	ENSP00000388502:p.Phe547Ser					ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.F547S	p.F547S	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1850	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	547					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1640T>C	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275711	0.40294	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.04706	3.57;3.57	4.21	2.07	0.26955	Zinc finger, C2H2 (1);	0.333383	0.21989	N	0.066198	T	0.02230	0.0069	N	0.08118	0	0.26478	N	0.975167	B	0.02656	0.0	B	0.01281	0.0	T	0.47302	-0.9128	9	.	.	.	.	5.9231	0.19094	0.0:0.2214:0.0:0.7786	.	547	Q96ND8	ZN583_HUMAN	S	547	ENSP00000291598:F547S;ENSP00000388502:F547S	.	F	+	2	0	ZNF583	61627479	0.332000	0.24722	0.990000	0.47175	0.997000	0.91878	0.903000	0.28475	0.259000	0.21709	0.528000	0.53228	TTC		0.428	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		5	39	0	0	0	1	0	5	39				
GABRA1	2554	broad.mit.edu	37	5	161317903	161317903	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161317903G>A	ENST00000428797.2	+	9	1058		c.e9-1		GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site|GABRA1_ENST00000393943.4_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTACTTCTCAGGAGAATATGT	0.363																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e9-1		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						120.0	114.0	116.0					5																	161317903		2203	4300	6503	SO:0001630	splice_region_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161317903G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.704-1G>A	5.37:g.161317903G>A						GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000437025.2_Splice_Site		NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	9	1058	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)						D3DQK6|Q8N629	Splice_Site	SNP	ENST00000428797.2	37		CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634986	0.67130	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4464	0.94849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GABRA1	161250481	1.000000	0.71417	0.996000	0.52242	0.620000	0.37586	9.695000	0.98691	2.603000	0.88011	0.650000	0.86243	.		0.363	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	Intron	29	36	0	0	0	1	0	29	36				
PRAM1	84106	broad.mit.edu	37	19	8563370	8563370	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563370C>T	ENST00000423345.4	-	2	1842	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.R441Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	489	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CAGAGGCCTCCGCCGGGGTGG	0.711																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1321-1323)cGg>cAg		PML-RARA regulated adaptor molecule 1							8.0	11.0	10.0					19																	8563370		1823	3944	5767	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8563370C>T	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1322G>A	19.37:g.8563370C>T	ENSP00000408342:p.Arg441Gln					PRAM1_ENST00000255612.3_Missense_Mutation_p.R441Q	p.R441Q			Q96QH2	PRAM_HUMAN			2	1842	-			489			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.1322G>A	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148400	0.57151	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15256	2.44;2.44	4.72	1.25	0.21368	.	0.231159	0.21883	N	0.067709	T	0.14657	0.0354	L	0.60455	1.87	0.23320	N	0.997911	D;D	0.57571	0.98;0.98	B;B	0.41988	0.372;0.372	T	0.16808	-1.0390	10	0.59425	D	0.04	.	4.7054	0.12848	0.0:0.5632:0.162:0.2748	.	441;489	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	Q	441	ENSP00000255612:R441Q;ENSP00000408342:R441Q	ENSP00000255612:R441Q	R	-	2	0	PRAM1	8469370	0.664000	0.27457	0.447000	0.26932	0.698000	0.40448	1.014000	0.29950	0.247000	0.21414	0.462000	0.41574	CGG		0.711	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		9	5	0	0	0	1	0	9	5				
POLE	5426	broad.mit.edu	37	12	133202895	133202895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133202895G>A	ENST00000320574.5	-	46	6382	c.6339C>T	c.(6337-6339)tcC>tcT	p.S2113S	POLE_ENST00000535270.1_Silent_p.S2086S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2113					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGTGTCCAGGGACAGCACCT	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6337-6339)tcC>tcT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							78.0	63.0	68.0					12																	133202895		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133202895G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6339C>T	12.37:g.133202895G>A						POLE_ENST00000535270.1_Silent_p.S2086S	p.S2113S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	46	6382	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2113					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.6339C>T	CCDS9278.1																																																																																				0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		6	20	0	0	0	1	0	6	20				
RPAP2	79871	broad.mit.edu	37	1	92767053	92767053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92767053C>T	ENST00000610020.1	+	3	249	c.140C>T	c.(139-141)gCt>gTt	p.A47V	GLMN_ENST00000534881.1_5'Flank|GLMN_ENST00000370360.3_5'Flank|RPAP2_ENST00000484158.1_Intron	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	47					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTAGAAGCAGCTGTGAGAAAG	0.323																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(139-141)gCt>gTt		RNA polymerase II associated protein 2							62.0	65.0	64.0					1																	92767053		2203	4297	6500	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92767053C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.140C>T	1.37:g.92767053C>T	ENSP00000476948:p.Ala47Val					RPAP2_ENST00000484158.1_Intron	p.A47V	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	3	249	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	47					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.140C>T	CCDS740.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934203	0.52866	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.5	3.64	0.41730	.	0.513993	0.20915	N	0.083387	T	0.40067	0.1102	M	0.66939	2.045	0.28476	N	0.915177	B	0.19200	0.034	B	0.20384	0.029	T	0.40289	-0.9571	8	0.62326	D	0.03	-3.3823	12.1898	0.54264	0.0:0.8611:0.0:0.1389	.	47	Q8IXW5	RPAP2_HUMAN	V	47	.	ENSP00000359368:A47V	A	+	2	0	RPAP2	92539641	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.755000	0.47540	0.696000	0.31696	0.650000	0.86243	GCT		0.323	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		20	54	0	0	0	1	0	20	54				
DIP2C	22982	broad.mit.edu	37	10	323451	323451	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:323451G>T	ENST00000280886.6	-	37	4572	c.4485C>A	c.(4483-4485)gcC>gcA	p.A1495A	AL603831.1_ENST00000579524.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1495						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGGTCCAAGGCTTCTTGTT	0.507																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4483-4485)gcC>gcA		DIP2 disco-interacting protein 2 homolog C (Drosophila)							126.0	109.0	115.0					10																	323451		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:323451G>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4485C>A	10.37:g.323451G>T							p.A1495A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	37	4572	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1495					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.4485C>A	CCDS7054.1																																																																																				0.507	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		4	55	1	0	0.00024832	1	0.0002712	4	55				
WDR47	22911	broad.mit.edu	37	1	109538268	109538268	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109538268G>T	ENST00000369962.3	-	8	1847	c.1625C>A	c.(1624-1626)aCt>aAt	p.T542N	WDR47_ENST00000400794.3_Missense_Mutation_p.T550N|WDR47_ENST00000361054.3_Missense_Mutation_p.T514N|WDR47_ENST00000369965.4_Missense_Mutation_p.T543N|WDR47_ENST00000357672.3_Missense_Mutation_p.T514N			O94967	WDR47_HUMAN	WD repeat domain 47	542					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTACGAGGAGTGCTTGTATG	0.388																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1540-1542)aCt>aAt		WD repeat domain 47							271.0	272.0	272.0					1																	109538268		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109538268G>T	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1625C>A	1.37:g.109538268G>T	ENSP00000358979:p.Thr542Asn					WDR47_ENST00000400794.3_Missense_Mutation_p.T550N|WDR47_ENST00000369965.4_Missense_Mutation_p.T543N|WDR47_ENST00000369962.3_Missense_Mutation_p.T542N|WDR47_ENST00000361054.3_Missense_Mutation_p.T514N	p.T514N			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	7	1916	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	542					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1541C>A	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855719	0.71834	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.57273	0.41;0.46;0.41;0.41;0.41	5.64	4.71	0.59529	.	0.045591	0.85682	D	0.000000	T	0.45558	0.1348	L	0.34521	1.04	0.58432	D	0.999992	D;D;D;D	0.63880	0.958;0.981;0.993;0.971	P;P;P;P	0.55713	0.663;0.69;0.782;0.776	T	0.43861	-0.9365	10	0.38643	T	0.18	-2.425	17.0435	0.86496	0.0:0.1362:0.8638:0.0	.	514;550;542;543	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	N	550;542;514;543;514	ENSP00000383599:T550N;ENSP00000358979:T542N;ENSP00000354339:T514N;ENSP00000358982:T543N;ENSP00000350301:T514N	ENSP00000350301:T514N	T	-	2	0	WDR47	109339791	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	2.360000	0.44151	1.467000	0.48044	0.561000	0.74099	ACT		0.388	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		18	382	1	0	7.45023e-12	1	9.32672e-12	18	382				
PAN2	9924	broad.mit.edu	37	12	56721409	56721409	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56721409G>T	ENST00000425394.2	-	6	1034	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	PAN2_ENST00000548043.1_Missense_Mutation_p.L220M|PAN2_ENST00000257931.5_Missense_Mutation_p.L220M|PAN2_ENST00000440411.3_Missense_Mutation_p.L220M	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGGTCTCTCAGGGAAACCTAG	0.448																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(658-660)Ctg>Atg		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							58.0	61.0	60.0					12																	56721409		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56721409G>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.658C>A	12.37:g.56721409G>T	ENSP00000401721:p.Leu220Met					PAN2_ENST00000548043.1_Missense_Mutation_p.L220M|PAN2_ENST00000257931.5_Missense_Mutation_p.L220M|PAN2_ENST00000440411.3_Missense_Mutation_p.L220M	p.L220M	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			6	1034	-			220						Missense_Mutation	SNP	ENST00000425394.2	37	c.658C>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161727	0.78226	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.23	4.32	0.51571	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.77651	0.4162	L	0.59912	1.85	0.54753	D	0.999988	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.67548	0.928;0.947;0.952	T	0.76618	-0.2893	10	0.46703	T	0.11	-8.0843	9.5188	0.39122	0.1536:0.0:0.8464:0.0	.	220;220;220	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	M	220;220;220;220;81	ENSP00000401721:L220M;ENSP00000388231:L220M;ENSP00000257931:L220M;ENSP00000449861:L220M;ENSP00000449092:L81M	ENSP00000257931:L220M	L	-	1	2	PAN2	55007676	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.738000	0.62073	2.596000	0.87737	0.655000	0.94253	CTG		0.448	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		8	60	1	0	3.09899e-07	1	3.63227e-07	8	60				
DNMT3A	1788	broad.mit.edu	37	2	25467441	25467441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25467441C>A	ENST00000264709.3	-	14	1972	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E356D|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E545D|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E322D	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	545	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGAGCACCTCACGGCCCC	0.632			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1633-1635)gaG>gaT		DNA (cytosine-5-)-methyltransferase 3 alpha							121.0	103.0	109.0					2																	25467441		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467441C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1635G>T	2.37:g.25467441C>A	ENSP00000264709:p.Glu545Asp					DNMT3A_ENST00000380746.4_Missense_Mutation_p.E356D|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E322D|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E545D	p.E545D	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			14	1972	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		545			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1635G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065023	0.55432	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.65	4.77	0.60923	Zinc finger, FYVE/PHD-type (1);	0.100374	0.64402	N	0.000003	T	0.72867	0.3514	L	0.56199	1.76	0.80722	D	1	B;B	0.20261	0.043;0.001	B;B	0.17979	0.02;0.001	T	0.70960	-0.4730	10	0.72032	D	0.01	-11.8684	11.5368	0.50641	0.0:0.9119:0.0:0.0881	.	545;356	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	D	356;545;545;322	ENSP00000370122:E356D;ENSP00000324375:E545D;ENSP00000264709:E545D;ENSP00000384237:E322D	ENSP00000264709:E545D	E	-	3	2	DNMT3A	25320945	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.610000	0.36869	1.353000	0.45828	0.655000	0.94253	GAG		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	39	1	0	0.150653	1	0.152692	4	39				
MYOCD	93649	broad.mit.edu	37	17	12655755	12655755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12655755C>T	ENST00000343344.4	+	10	1150	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	MYOCD_ENST00000425538.1_Nonsense_Mutation_p.R384*|AC005358.1_ENST00000609971.1_Nonsense_Mutation_p.R288*|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	384	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACAACAGCTTCGAATTCGGGG	0.453																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1150-1152)Cga>Tga		myocardin							66.0	68.0	68.0					17																	12655755		2203	4300	6503	SO:0001587	stop_gained	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655755C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1150C>T	17.37:g.12655755C>T	ENSP00000341835:p.Arg384*					MYOCD_ENST00000395988.1_Nonsense_Mutation_p.R288*|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.R384*	p.R384*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1350	+			384			SAP.		Q5UBU5|Q8N7Q1	Nonsense_Mutation	SNP	ENST00000343344.4	37	c.1150C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	36	5.762712	0.96906	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	.	.	.	5.68	3.65	0.41850	.	0.060804	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-8.6895	7.5792	0.27955	0.2931:0.6302:0.0:0.0767	.	.	.	.	X	103;384;384;288;89	.	ENSP00000341835:R384X	R	+	1	2	MYOCD	12596480	0.999000	0.42202	0.994000	0.49952	0.793000	0.44817	1.370000	0.34238	0.708000	0.31955	-0.218000	0.12543	CGA		0.453	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		21	38	0	0	0	1	0	21	38				
SPATA6L	55064	broad.mit.edu	37	9	4625414	4625414	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4625414A>C	ENST00000454239.2	-	7	827	c.582T>G	c.(580-582)caT>caG	p.H194Q	SPATA6L_ENST00000475086.1_Missense_Mutation_p.H136Q|SPATA6L_ENST00000381895.5_Missense_Mutation_p.H71Q|SPATA6L_ENST00000381890.5_Missense_Mutation_p.H208Q|SPATA6L_ENST00000223517.5_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	194																	CCTGGAAGAAATGCCTGGTAG	0.433																																						ENST00000454239.2																			0											c.(580-582)caT>caG		spermatogenesis associated 6-like							68.0	69.0	69.0					9																	4625414		1842	4089	5931	SO:0001583	missense	55064							g.chr9:4625414A>C	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.582T>G	9.37:g.4625414A>C	ENSP00000404277:p.His194Gln					SPATA6L_ENST00000381895.5_Missense_Mutation_p.H71Q|SPATA6L_ENST00000381890.5_Missense_Mutation_p.H208Q|SPATA6L_ENST00000475086.1_Missense_Mutation_p.H136Q|SPATA6L_ENST00000223517.5_5'UTR	p.H194Q			B4DIY4	B4DIY4_HUMAN			7	827	-			136					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.582T>G		.	.	.	.	.	.	.	.	.	.	A	13.29	2.193510	0.38707	.	.	ENSG00000106686	ENST00000454239;ENST00000381890;ENST00000475086;ENST00000381895	T;T;T;T	0.42131	1.99;0.98;2.0;1.97	5.22	-1.84	0.07809	.	0.225081	0.33040	N	0.005345	T	0.18215	0.0437	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30973	0.039;0.144;0.302	B;B;B	0.24541	0.015;0.038;0.054	T	0.08973	-1.0696	10	0.72032	D	0.01	-13.86	1.51	0.02494	0.4146:0.1415:0.3056:0.1384	.	136;71;194	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	Q	194;208;136;71	ENSP00000404277:H194Q;ENSP00000371314:H208Q;ENSP00000417063:H136Q;ENSP00000371319:H71Q	ENSP00000371314:H208Q	H	-	3	2	C9orf68	4615414	0.001000	0.12720	0.000000	0.03702	0.092000	0.18411	0.690000	0.25451	-0.170000	0.10816	0.528000	0.53228	CAT		0.433	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		7	51	0	0	0	1	0	7	51				
SP4	6671	broad.mit.edu	37	7	21470442	21470442	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21470442T>C	ENST00000222584.3	+	3	1877	c.1659T>C	c.(1657-1659)gtT>gtC	p.V553V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	553					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAGTTCCCGTTACAATCACTA	0.408																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1657-1659)gtT>gtC		Sp4 transcription factor							116.0	112.0	113.0					7																	21470442		2203	4300	6503	SO:0001819	synonymous_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21470442T>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1659T>C	7.37:g.21470442T>C							p.V553V	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	1877	+			553					O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	c.1659T>C	CCDS5373.1																																																																																				0.408	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		5	110	0	0	0	1	0	5	110				
TECTA	7007	broad.mit.edu	37	11	121032925	121032925	+	Silent	SNP	G	G	A	rs376628197		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121032925G>A	ENST00000392793.1	+	16	5389	c.5118G>A	c.(5116-5118)ggG>ggA	p.G1706G	TECTA_ENST00000264037.2_Silent_p.G1706G			O75443	TECTA_HUMAN	tectorin alpha	1706					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTGCTATGGGCTTCTCGATC	0.587																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(5116-5118)ggG>ggA		tectorin alpha		G		1,4405	2.1+/-5.4	0,1,2202	89.0	79.0	82.0		5118	1.5	1.0	11		82	0,8598		0,0,4299	no	coding-synonymous	TECTA	NM_005422.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		1706/2156	121032925	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121032925G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5118G>A	11.37:g.121032925G>A						TECTA_ENST00000264037.2_Silent_p.G1706G	p.G1706G			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	16	5389	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1706						Silent	SNP	ENST00000392793.1	37	c.5118G>A	CCDS8434.1																																																																																				0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		18	37	0	0	0	1	0	18	37				
FAT2	2196	broad.mit.edu	37	5	150934222	150934222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150934222C>T	ENST00000261800.5	-	4	3658	c.3646G>A	c.(3646-3648)Gac>Aac	p.D1216N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1216	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCATTGTCCAGCACAGTC	0.473																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3646-3648)Gac>Aac		FAT atypical cadherin 2							86.0	78.0	81.0					5																	150934222		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150934222C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3646G>A	5.37:g.150934222C>T	ENSP00000261800:p.Asp1216Asn						p.D1216N	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	3658	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1216			Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3646G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220871	0.95139	.	.	ENSG00000086570	ENST00000261800	T	0.79940	-1.32	5.44	5.44	0.79542	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.92831	0.7720	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94187	0.7437	10	0.66056	D	0.02	.	18.6263	0.91340	0.0:1.0:0.0:0.0	.	1216	Q9NYQ8	FAT2_HUMAN	N	1216	ENSP00000261800:D1216N	ENSP00000261800:D1216N	D	-	1	0	FAT2	150914415	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.375000	0.79646	2.703000	0.92315	0.643000	0.83706	GAC		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		24	39	0	0	0	1	0	24	39				
ESCO1	114799	broad.mit.edu	37	18	19153731	19153731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19153731C>T	ENST00000269214.5	-	4	2011	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	358					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTGCACATCCTGATTTGTTT	0.363																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1072-1074)caG>caA		establishment of sister chromatid cohesion N-acetyltransferase 1							153.0	151.0	152.0					18																	19153731		2203	4300	6503	SO:0001819	synonymous_variant	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153731C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1074G>A	18.37:g.19153731C>T							p.Q358Q	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2011	-			358					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	c.1074G>A	CCDS32800.1																																																																																				0.363	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		10	130	0	0	0	1	0	10	130				
ORC4	5000	broad.mit.edu	37	2	148705697	148705697	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:148705697T>G	ENST00000392857.5	-	9	792	c.685A>C	c.(685-687)Ata>Cta	p.I229L	ORC4_ENST00000540442.1_Missense_Mutation_p.I155L|ORC4_ENST00000542387.1_Missense_Mutation_p.I12L|ORC4_ENST00000392858.1_Missense_Mutation_p.I229L|ORC4_ENST00000536575.1_Missense_Mutation_p.I145L|ORC4_ENST00000264169.2_Missense_Mutation_p.I229L|ORC4_ENST00000535373.1_Missense_Mutation_p.I229L	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	229					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCTTTAAATATTTTAACATAC	0.333																																						ENST00000535373.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(685-687)Ata>Cta		origin recognition complex, subunit 4							67.0	78.0	74.0					2																	148705697		2203	4293	6496	SO:0001583	missense	5000				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	g.chr2:148705697T>G	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.685A>C	2.37:g.148705697T>G	ENSP00000376597:p.Ile229Leu					ORC4_ENST00000540442.1_Missense_Mutation_p.I155L|ORC4_ENST00000392857.4_Missense_Mutation_p.I229L|ORC4_ENST00000264169.2_Missense_Mutation_p.I229L|ORC4_ENST00000392858.1_Missense_Mutation_p.I229L|ORC4_ENST00000542387.1_Missense_Mutation_p.I12L|ORC4_ENST00000536575.1_Missense_Mutation_p.I145L	p.I229L	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN			10	1117	-			229					B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	c.685A>C	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643257	0.29246	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.76578	0.49;0.49;0.49;0.49;0.49;0.49;-1.03	5.83	5.83	0.93111	.	0.051265	0.85682	D	0.000000	T	0.70334	0.3212	L	0.41492	1.28	0.38031	D	0.935174	B;B;B	0.31581	0.329;0.329;0.329	B;B;B	0.30943	0.113;0.122;0.113	T	0.69573	-0.5109	10	0.22706	T	0.39	-27.0871	16.2141	0.82191	0.0:0.0:0.0:1.0	.	229;229;229	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	L	229;229;229;155;145;229;12	ENSP00000264169:I229L;ENSP00000441953:I229L;ENSP00000376598:I229L;ENSP00000438326:I155L;ENSP00000441502:I145L;ENSP00000376597:I229L;ENSP00000437440:I12L	ENSP00000264169:I229L	I	-	1	0	ORC4	148422167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.923000	0.48868	2.224000	0.72417	0.528000	0.53228	ATA		0.333	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		7	87	0	0	0	1	0	7	87				
CDS1	1040	broad.mit.edu	37	4	85560115	85560115	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85560115T>A	ENST00000295887.5	+	9	1272	c.849T>A	c.(847-849)ggT>ggA	p.G283G		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTGGTGGTTTCTTTTCCA	0.299																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(847-849)ggT>ggA		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							111.0	107.0	108.0					4																	85560115		2201	4297	6498	SO:0001819	synonymous_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85560115T>A	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.849T>A	4.37:g.85560115T>A							p.G283G	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	9	1272	+		Hepatocellular(203;0.114)	283					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000295887.5	37	c.849T>A	CCDS3608.1																																																																																				0.299	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			14	37	0	0	0	1	0	14	37				
FZD1	8321	broad.mit.edu	37	7	90896036	90896036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90896036G>A	ENST00000287934.2	+	1	2254	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	614					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGATCGTGGGCATCACGTCG	0.607																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1840-1842)gGc>gAc		frizzled family receptor 1							39.0	42.0	41.0					7																	90896036		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90896036G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1841G>A	7.37:g.90896036G>A	ENSP00000287934:p.Gly614Asp						p.G614D	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2254	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		614					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1841G>A	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227713	0.79576	.	.	ENSG00000157240	ENST00000287934	D	0.92249	-3.0	4.91	4.91	0.64330	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97604	0.9215	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98688	1.0695	10	0.87932	D	0	.	18.6493	0.91425	0.0:0.0:1.0:0.0	.	614	Q9UP38	FZD1_HUMAN	D	614	ENSP00000287934:G614D	ENSP00000287934:G614D	G	+	2	0	FZD1	90733972	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.643000	0.98464	2.709000	0.92574	0.655000	0.94253	GGC		0.607	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		38	32	0	0	0	1	0	38	32				
DSCR3	10311	broad.mit.edu	37	21	38610792	38610792	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38610792T>C	ENST00000309117.6	-	3	557	c.320A>G	c.(319-321)gAg>gGg	p.E107G	DSCR3_ENST00000476950.1_Missense_Mutation_p.E107G|DSCR3_ENST00000399001.1_Intron|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000398998.1_Missense_Mutation_p.E59G|DSCR3_ENST00000288304.5_Missense_Mutation_p.E65G	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	107						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ATGATACGTCTCATACAGAAC	0.453																																						ENST00000288304.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(193-195)gAg>gGg		Down syndrome critical region gene 3							164.0	151.0	155.0					21																	38610792		2203	4300	6503	SO:0001583	missense	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38610792T>C	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.320A>G	21.37:g.38610792T>C	ENSP00000311399:p.Glu107Gly					DSCR3_ENST00000309117.6_Missense_Mutation_p.E107G|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Missense_Mutation_p.E107G|DSCR3_ENST00000398998.1_Missense_Mutation_p.E59G|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000399001.1_Intron	p.E65G			O14972	DSCR3_HUMAN			3	986	-			107					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	c.194A>G	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.017722	0.93404	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000476950;ENST00000398998	T	0.06371	3.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.39014	-0.9634	10	0.87932	D	0	-8.5269	15.7411	0.77899	0.0:0.0:0.0:1.0	.	107;107	B7Z6B1;O14972	.;DSCR3_HUMAN	G	107;65;107;59	ENSP00000311399:E107G	ENSP00000288304:E65G	E	-	2	0	DSCR3	37532662	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.668000	0.83897	2.171000	0.68590	0.533000	0.62120	GAG		0.453	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			6	161	0	0	0	1	0	6	161				
AHNAK2	113146	broad.mit.edu	37	14	105416412	105416412	+	Silent	SNP	G	G	A	rs187143773	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416412G>A	ENST00000333244.5	-	7	5495	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1792						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGCCTCGACGTCCACCTCCA	0.632													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15613	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5374-5376)gaC>gaT		AHNAK nucleoprotein 2		G		1,3959		0,1,1979	119.0	141.0	134.0		5376	1.0	0.0	14		134	2,8256		1,0,4128	no	coding-synonymous	AHNAK2	NM_138420.2		1,1,6107	AA,AG,GG		0.0242,0.0253,0.0246		1792/5796	105416412	3,12215	1980	4129	6109	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416412G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5376C>T	14.37:g.105416412G>A						AHNAK2_ENST00000557457.1_Intron	p.D1792D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5495	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1792					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5376C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		85	113	0	0	0	1	0	85	113				
HPS5	11234	broad.mit.edu	37	11	18327847	18327847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18327847C>T	ENST00000349215.3	-	7	936	c.659G>A	c.(658-660)gGa>gAa	p.G220E	HPS5_ENST00000531848.1_Missense_Mutation_p.G106E|HPS5_ENST00000396253.3_Missense_Mutation_p.G106E|HPS5_ENST00000438420.2_Missense_Mutation_p.G106E	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	220					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAACAAGCTCCATATTCTCC	0.403									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(316-318)gGa>gAa		Hermansky-Pudlak syndrome 5							90.0	89.0	89.0					11																	18327847		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18327847C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.659G>A	11.37:g.18327847C>T	ENSP00000265967:p.Gly220Glu					HPS5_ENST00000438420.2_Missense_Mutation_p.G106E|HPS5_ENST00000531848.1_Missense_Mutation_p.G106E|HPS5_ENST00000349215.3_Missense_Mutation_p.G220E	p.G106E	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			6	779	-			220					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.317G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900822	0.92035	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;D;T	0.81996	-1.48;-1.48;-1.56;0.05	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93087	0.6496	10	0.87932	D	0	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	220	Q9UPZ3	HPS5_HUMAN	E	106;106;220;106	ENSP00000379552:G106E;ENSP00000399590:G106E;ENSP00000265967:G220E;ENSP00000431758:G106E	ENSP00000265967:G220E	G	-	2	0	HPS5	18284423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.685000	0.91497	0.585000	0.79938	GGA		0.403	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		17	24	0	0	0	1	0	17	24				
ZNF37A	7587	broad.mit.edu	37	10	38406524	38406524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406524A>G	ENST00000361085.5	+	7	790	c.445A>G	c.(445-447)Aat>Gat	p.N149D	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N149D	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTTTGAATACAATGAATGTGG	0.368																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(445-447)Aat>Gat		zinc finger protein 37A							56.0	60.0	59.0					10																	38406524		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406524A>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.445A>G	10.37:g.38406524A>G	ENSP00000354377:p.Asn149Asp					ZNF37A_ENST00000361085.4_Missense_Mutation_p.N149D	p.N149D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1275	+			149					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.445A>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	1.816	-0.473465	0.04445	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.14640	2.49;2.49	2.57	1.4	0.22301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.33189	0.99	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	9	0.33940	T	0.23	.	2.3125	0.04190	0.6101:0.0:0.1471:0.2428	.	149	P17032	ZN37A_HUMAN	D	149	ENSP00000329141:N149D;ENSP00000354377:N149D	ENSP00000329141:N149D	N	+	1	0	ZNF37A	38446530	0.000000	0.05858	0.062000	0.19696	0.012000	0.07955	-3.644000	0.00405	0.226000	0.20979	-0.376000	0.06991	AAT		0.368	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		32	45	0	0	0	1	0	32	45				
CLCNKA	1187	broad.mit.edu	37	1	16353030	16353030	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353030G>T	ENST00000331433.4	+	6	517		c.e6-1		CLCNKA_ENST00000420078.1_Splice_Site|CLCNKA_ENST00000375692.1_Splice_Site|CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCTCTGCAGGGCCCTTTCG	0.662																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.e7-1		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						71.0	58.0	63.0					1																	16353030		2203	4300	6503	SO:0001630	splice_region_variant	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353030G>T		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.499-1G>T	1.37:g.16353030G>T						CLCNKA_ENST00000420078.1_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site|CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000331433.4_Splice_Site				P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	7	626	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Splice_Site	SNP	ENST00000331433.4	37		CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475020	0.43942	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8455	0.63466	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCNKA	16225617	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	5.526000	0.67116	1.782000	0.52362	0.305000	0.20034	.		0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1		Intron	18	18	1	0	3.99206e-14	1	5.08633e-14	18	18				
SORBS2	8470	broad.mit.edu	37	4	186544816	186544816	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544816G>A	ENST00000284776.7	-	13	2264	c.1755C>T	c.(1753-1755)agC>agT	p.S585S	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.S489S|SORBS2_ENST00000355634.5_Silent_p.S685S|SORBS2_ENST00000431808.1_Silent_p.S585S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	585					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTGCTCATCGCTGGTGACTT	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1753-1755)agC>agT		sorbin and SH3 domain containing 2							49.0	49.0	49.0					4																	186544816		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544816G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1755C>T	4.37:g.186544816G>A						SORBS2_ENST00000418609.1_Silent_p.S489S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.S585S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Silent_p.S685S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	p.S585S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2318	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	585					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1755C>T	CCDS3845.1																																																																																				0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		22	32	0	0	0	1	0	22	32				
ZNF613	79898	broad.mit.edu	37	19	52448941	52448941	+	Missense_Mutation	SNP	C	C	A	rs372326461		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448941C>A	ENST00000293471.6	+	6	2484	c.1805C>A	c.(1804-1806)cCt>cAt	p.P602H	ZNF613_ENST00000391794.4_Missense_Mutation_p.P566H|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTGAGCCAGCCTGTTGCCAGA	0.438																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1804-1806)cCt>cAt		zinc finger protein 613							73.0	66.0	68.0					19																	52448941		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448941C>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1805C>A	19.37:g.52448941C>A	ENSP00000293471:p.Pro602His					ZNF613_ENST00000391794.4_Missense_Mutation_p.P566H|ZNF613_ENST00000601794.1_Intron	p.P602H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2484	+		all_neural(266;0.117)	602					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1805C>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027485	0.19512	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.06849	3.35;3.25	2.79	1.75	0.24633	.	.	.	.	.	T	0.06826	0.0174	N	0.08118	0	0.09310	N	0.999999	D	0.57571	0.98	P	0.52710	0.707	T	0.29274	-1.0017	9	0.72032	D	0.01	.	4.1817	0.10378	0.0:0.6219:0.2419:0.1362	.	602	Q6PF04	ZN613_HUMAN	H	602;566;276	ENSP00000293471:P602H;ENSP00000375671:P566H	ENSP00000293471:P602H	P	+	2	0	ZNF613	57140753	0.000000	0.05858	0.039000	0.18376	0.229000	0.25112	-0.049000	0.11924	0.755000	0.32990	0.655000	0.94253	CCT		0.438	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		10	16	1	0	7.03913e-09	1	8.47891e-09	10	16				
KDM5C	8242	broad.mit.edu	37	X	53240002	53240002	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53240002G>A	ENST00000375401.3	-	11	1971	c.1439C>T	c.(1438-1440)cCg>cTg	p.P480L	KDM5C_ENST00000404049.3_Missense_Mutation_p.P479L|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Missense_Mutation_p.P480L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P439L|KDM5C_ENST00000452825.3_Missense_Mutation_p.P413L|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	480	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTCCAACACCGGCATCACATT	0.488			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1237-1239)cCg>cTg		lysine (K)-specific demethylase 5C							146.0	107.0	120.0					X																	53240002		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53240002G>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1439C>T	X.37:g.53240002G>A	ENSP00000364550:p.Pro480Leu					KDM5C_ENST00000404049.3_Missense_Mutation_p.P479L|KDM5C_ENST00000375379.3_Missense_Mutation_p.P480L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P439L|KDM5C_ENST00000375401.3_Missense_Mutation_p.P480L	p.P413L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			9	1770	-			480					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1238C>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295010	0.81025	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.42	5.42	0.78866	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.93253	0.6636	10	0.87932	D	0	-11.8571	15.4991	0.75680	0.0:0.0:1.0:0.0	.	413;479;480	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	L	413;480;479;480;439	ENSP00000445176:P413L;ENSP00000364550:P480L;ENSP00000385394:P479L;ENSP00000364528:P480L;ENSP00000364532:P439L	ENSP00000364528:P480L	P	-	2	0	KDM5C	53256727	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	9.824000	0.99380	2.252000	0.74401	0.600000	0.82982	CCG		0.488	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		5	53	0	0	0	1	0	5	53				
PARD3	56288	broad.mit.edu	37	10	34666916	34666916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34666916C>A	ENST00000374789.3	-	10	1843	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	PARD3_ENST00000545260.1_Missense_Mutation_p.K462N|PARD3_ENST00000346874.4_Missense_Mutation_p.K506N|PARD3_ENST00000545693.1_Missense_Mutation_p.K506N|PARD3_ENST00000374794.3_Missense_Mutation_p.K462N|PARD3_ENST00000374788.3_Missense_Mutation_p.K506N|PARD3_ENST00000544292.1_Missense_Mutation_p.K236N|PARD3_ENST00000374773.1_Missense_Mutation_p.K506N|PARD3_ENST00000374776.1_Missense_Mutation_p.K506N|PARD3_ENST00000340077.5_Missense_Mutation_p.K506N|PARD3_ENST00000350537.4_Missense_Mutation_p.K506N|PARD3_ENST00000374790.3_Missense_Mutation_p.K462N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	506	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCTCCTGCCTTAAGTCGGC	0.468																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1516-1518)aaG>aaT		par-3 family cell polarity regulator							100.0	109.0	106.0					10																	34666916		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34666916C>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1518G>T	10.37:g.34666916C>A	ENSP00000363921:p.Lys506Asn					PARD3_ENST00000374794.3_Missense_Mutation_p.K462N|PARD3_ENST00000340077.5_Missense_Mutation_p.K506N|PARD3_ENST00000350537.4_Missense_Mutation_p.K506N|PARD3_ENST00000346874.4_Missense_Mutation_p.K506N|PARD3_ENST00000544292.1_Missense_Mutation_p.K236N|PARD3_ENST00000374776.1_Missense_Mutation_p.K506N|PARD3_ENST00000545693.1_Missense_Mutation_p.K506N|PARD3_ENST00000374790.3_Missense_Mutation_p.K462N|PARD3_ENST00000374773.1_Missense_Mutation_p.K506N|PARD3_ENST00000545260.1_Missense_Mutation_p.K462N|PARD3_ENST00000374788.3_Missense_Mutation_p.K506N	p.K506N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			10	1843	-		Breast(68;0.0707)	506			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1518G>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155419	0.38021	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.52	3.31	0.37934	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;0.985;1.0;1.0;0.999;0.994;0.998;0.944	D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.97110	0.999;0.994;0.999;0.999;0.999;1.0;1.0;0.982;0.91;1.0;1.0;0.989;0.978;0.979;0.657	T	0.52177	-0.8610	10	0.66056	D	0.02	.	11.5847	0.50912	0.0:0.7799:0.0:0.2201	.	462;462;506;506;506;506;506;506;462;506;506;506;506;506;236	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	N	506;462;506;506;506;462;506;462;506;506;506;236	ENSP00000443147:K506N;ENSP00000440857:K462N;ENSP00000363921:K506N;ENSP00000363920:K506N;ENSP00000340591:K506N;ENSP00000363926:K462N;ENSP00000311986:K506N;ENSP00000363922:K462N;ENSP00000363908:K506N;ENSP00000341844:K506N;ENSP00000363905:K506N;ENSP00000444429:K236N	ENSP00000341844:K506N	K	-	3	2	PARD3	34706922	1.000000	0.71417	0.971000	0.41717	0.065000	0.16274	1.163000	0.31798	1.299000	0.44798	0.563000	0.77884	AAG		0.468	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		55	68	1	0	1.54886e-18	1	2.02154e-18	55	68				
PLTP	5360	broad.mit.edu	37	20	44531097	44531097	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44531097C>T	ENST00000477313.1	-	10	1683	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	PLTP_ENST00000420868.2_Silent_p.Q268Q|PLTP_ENST00000372420.1_Silent_p.Q275Q|PLTP_ENST00000372431.3_Silent_p.Q363Q|PLTP_ENST00000354050.4_Silent_p.Q311Q|PLTP_ENST00000542937.1_Silent_p.Q383Q			P55058	PLTP_HUMAN	phospholipid transfer protein	363					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGACAGCTGGACCTCAG	0.612																																						ENST00000477313.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1087-1089)caG>caA		phospholipid transfer protein							86.0	86.0	86.0					20																	44531097		2203	4300	6503	SO:0001819	synonymous_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44531097C>T	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1089G>A	20.37:g.44531097C>T						PLTP_ENST00000372420.1_Silent_p.Q275Q|PLTP_ENST00000372431.3_Silent_p.Q363Q|PLTP_ENST00000354050.4_Silent_p.Q311Q|PLTP_ENST00000542937.1_Silent_p.Q383Q|PLTP_ENST00000420868.2_Silent_p.Q268Q	p.Q363Q			P55058	PLTP_HUMAN			10	1683	-		Myeloproliferative disorder(115;0.0122)	363					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	c.1089G>A	CCDS13386.1																																																																																				0.612	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		6	115	0	0	0	1	0	6	115				
VCP	7415	broad.mit.edu	37	9	35066787	35066787	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35066787G>A	ENST00000358901.6	-	4	1225	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TACGTTTGCCGTACTTCACAT	0.512																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(328-330)taC>taT		valosin containing protein							174.0	146.0	156.0					9																	35066787		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35066787G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.330C>T	9.37:g.35066787G>A							p.Y110Y	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		4	1225	-			110					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.330C>T	CCDS6573.1																																																																																				0.512	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		28	49	0	0	0	1	0	28	49				
ASTE1	28990	broad.mit.edu	37	3	130733175	130733175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130733175G>T	ENST00000264992.3	-	6	2207	c.1766C>A	c.(1765-1767)tCt>tAt	p.S589Y	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.S614Y	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	589					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACTTTCTACAGAGGTCGATGC	0.428																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1765-1767)tCt>tAt		asteroid homolog 1 (Drosophila)							80.0	81.0	80.0					3																	130733175		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130733175G>T	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1766C>A	3.37:g.130733175G>T	ENSP00000264992:p.Ser589Tyr					ASTE1_ENST00000514044.1_Missense_Mutation_p.S614Y|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000328560.8_Intron	p.S589Y	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			6	2207	-			589					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.1766C>A	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781641	0.31502	.	.	ENSG00000034533	ENST00000514044;ENST00000264992	.	.	.	5.81	4.93	0.64822	.	0.321252	0.34484	N	0.003925	T	0.66268	0.2772	M	0.73598	2.24	0.09310	N	0.999997	D;D	0.71674	0.998;0.998	D;D	0.66196	0.942;0.921	T	0.62421	-0.6858	9	0.87932	D	0	-14.5465	13.4025	0.60891	0.0:0.0:0.8422:0.1578	.	614;589	D6RG30;Q2TB18	.;ASTE1_HUMAN	Y	614;589	.	ENSP00000264992:S589Y	S	-	2	0	ASTE1	132215865	0.889000	0.30405	0.013000	0.15412	0.028000	0.11728	3.759000	0.55227	1.427000	0.47276	0.557000	0.71058	TCT		0.428	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		4	59	1	0	5.9392e-07	1	6.91975e-07	4	59				
APOBEC3H	164668	broad.mit.edu	37	22	39497438	39497438	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39497438G>A	ENST00000401756.1	+	3	423	c.347G>A	c.(346-348)tGc>tAc	p.C116Y	APOBEC3H_ENST00000421988.2_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000442487.3_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.C116Y	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	116					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TACCACTGGTGCAAGCCCCAG	0.592																																						ENST00000442487.3																			0				central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(346-348)tGc>tAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H							57.0	52.0	54.0					22																	39497438		2203	4300	6503	SO:0001583	missense	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497438G>A	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.347G>A	22.37:g.39497438G>A	ENSP00000385741:p.Cys116Tyr					APOBEC3H_ENST00000401756.1_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.C116Y	p.C116Y	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN			3	474	+	Melanoma(58;0.04)		116					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	37	c.347G>A	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.092821	0.00364	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	3.33	-6.67	0.01783	.	.	.	.	.	T	0.34658	0.0905	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.39781	-0.9597	9	0.02654	T	1	-0.0072	6.8361	0.23937	0.3355:0.0:0.4866:0.1779	.	116	B7TQM3	.	Y	116	ENSP00000216123:C116Y;ENSP00000411754:C116Y;ENSP00000393520:C116Y;ENSP00000385741:C116Y	ENSP00000216123:C116Y	C	+	2	0	APOBEC3H	37827384	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.626000	0.00874	-2.038000	0.00918	-0.488000	0.04728	TGC		0.592	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		4	32	0	0	0	1	0	4	32				
H6PD	9563	broad.mit.edu	37	1	9305383	9305383	+	Silent	SNP	C	C	T	rs543734256	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9305383C>T	ENST00000377403.2	+	2	692	c.390C>T	c.(388-390)caC>caT	p.H130H	H6PD_ENST00000602477.1_Silent_p.H141H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	130	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTCCAGCACGCAGGCCTCC	0.597																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(388-390)caC>caT		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						73.0	74.0	74.0					1																	9305383		2203	4300	6503	SO:0001819	synonymous_variant	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305383C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.390C>T	1.37:g.9305383C>T						H6PD_ENST00000602477.1_Silent_p.H141H	p.H130H	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	692	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	130			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	c.390C>T	CCDS101.1																																																																																				0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		13	70	0	0	0	1	0	13	70				
ASPM	259266	broad.mit.edu	37	1	197059198	197059198	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197059198C>T	ENST00000367409.4	-	25	10102	c.9846G>A	c.(9844-9846)ttG>ttA	p.L3282L	ASPM_ENST00000294732.7_Silent_p.L1697L|ASPM_ENST00000367408.1_Silent_p.L947L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3282					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAGTGGAGACAATCTAGTAA	0.338																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9844-9846)ttG>ttA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							63.0	68.0	66.0					1																	197059198		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197059198C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9846G>A	1.37:g.197059198C>T						ASPM_ENST00000367408.1_Silent_p.L947L|ASPM_ENST00000294732.7_Silent_p.L1697L	p.L3282L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			25	10102	-			3282					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9846G>A	CCDS1389.1																																																																																				0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	77	0	0	0	1	0	4	77				
SLC26A10	65012	broad.mit.edu	37	12	58016682	58016682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016682G>A	ENST00000320442.4	+	6	1215	c.904G>A	c.(904-906)Gca>Aca	p.A302T	SLC26A10_ENST00000379218.2_Missense_Mutation_p.A302T	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	302						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCCATCCATGCAGACAAGTA	0.562																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(904-906)Gca>Aca		solute carrier family 26, member 10							121.0	102.0	109.0					12																	58016682		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58016682G>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.904G>A	12.37:g.58016682G>A	ENSP00000320217:p.Ala302Thr					SLC26A10_ENST00000320442.4_Missense_Mutation_p.A302T	p.A302T			Q8NG04	S2610_HUMAN			6	1215	+	Melanoma(17;0.122)		302					A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.904G>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	29.8	5.034666	0.93575	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.94862	-3.54;-3.54	3.76	3.76	0.43208	Sulphate transporter (1);	.	.	.	.	D	0.97439	0.9162	M	0.89601	3.045	0.48135	D	0.999595	D	0.89917	1.0	D	0.91635	0.999	D	0.97891	1.0297	9	0.87932	D	0	.	13.9269	0.63968	0.0:0.0:1.0:0.0	.	302	Q8NG04	S2610_HUMAN	T	302	ENSP00000320217:A302T;ENSP00000368520:A302T	ENSP00000320217:A302T	A	+	1	0	SLC26A10	56302949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.113000	0.89568	2.394000	0.81467	0.643000	0.83706	GCA		0.562	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			18	26	0	0	0	1	0	18	26				
RGAG4	340526	broad.mit.edu	37	X	71350537	71350537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350537C>T	ENST00000545866.1	-	1	1221	c.854G>A	c.(853-855)cGc>cAc	p.R285H	NHSL2_ENST00000373677.1_5'Flank|RGAG4_ENST00000609883.1_Missense_Mutation_p.R285H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	285										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GAGCTCTTTGCGGAAGAATTC	0.502																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(853-855)cGc>cAc		retrotransposon gag domain containing 4							107.0	102.0	103.0					X																	71350537		1885	4107	5992	SO:0001583	missense	340526							g.chrX:71350537C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.854G>A	X.37:g.71350537C>T	ENSP00000441366:p.Arg285His					RGAG4_ENST00000479991.1_Missense_Mutation_p.R285H|NHSL2_ENST00000540800.1_Intron	p.R285H			Q5HYW3	RGAG4_HUMAN			1	1221	-	Renal(35;0.156)		285					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.854G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511208	0.27036	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.13901	2.55;2.55	3.82	2.96	0.34315	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.26324	N	0.977622	B	0.21688	0.059	B	0.12156	0.007	T	0.39840	-0.9594	8	.	.	.	-0.0625	6.595	0.22667	0.0:0.8674:0.0:0.1326	.	285	Q5HYW3	RGAG4_HUMAN	H	285	ENSP00000441366:R285H;ENSP00000418667:R285H	.	R	-	2	0	RGAG4	71267262	0.859000	0.29813	0.962000	0.40283	0.871000	0.50021	0.203000	0.17315	0.973000	0.38340	-0.295000	0.09555	CGC		0.502	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		10	147	0	0	0	1	0	10	147				
TRMT2A	27037	broad.mit.edu	37	22	20103712	20103712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20103712G>A	ENST00000252136.7	-	2	836	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	TRMT2A_ENST00000439169.2_Missense_Mutation_p.P150S|TRMT2A_ENST00000403707.3_Missense_Mutation_p.P150S|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.P150S|RANBP1_ENST00000331821.3_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	150					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CTGGCCATGGGGTCGGCCTTG	0.662																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(448-450)Ccc>Tcc		tRNA methyltransferase 2 homolog A (S. cerevisiae)							51.0	50.0	50.0					22																	20103712		2202	4300	6502	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103712G>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.448C>T	22.37:g.20103712G>A	ENSP00000252136:p.Pro150Ser					RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000403707.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.P150S	p.P150S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			2	836	-			150					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.448C>T	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.102820|5.102820	0.94245|0.94245	.|.	.|.	ENSG00000099901|ENSG00000099899	ENST00000432879|ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	.|T;T;T;T	.|0.34859	.|1.34;1.34;1.34;1.34	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Nucleotide-binding, alpha-beta plait (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66356|0.66356	0.2781|0.2781	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.89917	.|1.0;0.402;0.402	.|D;B;B	.|0.97110	.|1.0;0.168;0.119	T|T	0.68398|0.68398	-0.5419|-0.5419	6|10	0.87932|0.39692	D|T	0|0.17	-32.2816|-32.2816	18.6227|18.6227	0.91327|0.91327	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|150;150;150	.|B4E213;F2Z2W7;Q8IZ69	.|.;.;TRM2A_HUMAN	E|S	2|150	.|ENSP00000252136:P150S;ENSP00000385807:P150S;ENSP00000384968:P150S;ENSP00000395738:P150S	ENSP00000404724:G2E|ENSP00000252136:P150S	G|P	+|-	2|1	0|0	RANBP1|TRMT2A	18483712|18483712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.311000|7.311000	0.78958|0.78958	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	GGG|CCC		0.662	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		12	27	0	0	0	1	0	12	27				
DNAJC13	23317	broad.mit.edu	37	3	132169630	132169630	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132169630T>C	ENST00000260818.6	+	6	724	c.476T>C	c.(475-477)tTt>tCt	p.F159S	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	159					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTGAAGGATTTGTAGATCTC	0.323																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(475-477)tTt>tCt		DnaJ (Hsp40) homolog, subfamily C, member 13							55.0	61.0	59.0					3																	132169630		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132169630T>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.476T>C	3.37:g.132169630T>C	ENSP00000260818:p.Phe159Ser					DNAJC13_ENST00000486798.1_3'UTR	p.F159S	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			6	724	+			159					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.476T>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053451	0.75960	.	.	ENSG00000138246	ENST00000260818	T	0.39592	1.07	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	L	0.47716	1.5	0.58432	D	0.999999	P;D	0.54601	0.804;0.967	P;D	0.65874	0.46;0.939	T	0.60078	-0.7333	10	0.87932	D	0	.	16.1329	0.81458	0.0:0.0:0.0:1.0	.	159;159	A7E2Y5;O75165	.;DJC13_HUMAN	S	159	ENSP00000260818:F159S	ENSP00000260818:F159S	F	+	2	0	DNAJC13	133652320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.208000	0.71279	0.533000	0.62120	TTT		0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		6	66	0	0	0	1	0	6	66				
MUC4	4585	broad.mit.edu	37	3	195518259	195518259	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195518259C>T	ENST00000463781.3	-	2	651	c.192G>A	c.(190-192)agG>agA	p.R64R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.R64R|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	64					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATTAGAGGTCCTTGAAGAAG	0.488																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(190-192)agG>agA		mucin 4, cell surface associated							327.0	307.0	313.0					3																	195518259		2053	4202	6255	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195518259C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.192G>A	3.37:g.195518259C>T						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R64R|MUC4_ENST00000346145.4_Intron	p.R64R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	651	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	64					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.192G>A	CCDS54700.1																																																																																				0.488	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		53	113	0	0	0	1	0	53	113				
PIK3C2A	5286	broad.mit.edu	37	11	17190742	17190742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190742C>A	ENST00000265970.7	-	1	546	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	183					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TATATAGGTTCTGTAGATGGA	0.398																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(547-549)Gaa>Taa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						74.0	78.0	77.0					11																	17190742		2200	4293	6493	SO:0001587	stop_gained	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190742C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.547G>T	11.37:g.17190742C>A	ENSP00000265970:p.Glu183*					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.E183*	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	546	-			183					B0LPH2|B4E2G4|Q14CQ9	Nonsense_Mutation	SNP	ENST00000265970.7	37	c.547G>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827648	0.71143	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	.	.	.	5.53	3.66	0.41972	.	0.789104	0.12581	N	0.456412	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-10.2012	10.0586	0.42261	0.0:0.7835:0.0:0.2165	.	.	.	.	X	183	.	ENSP00000265970:E183X	E	-	1	0	PIK3C2A	17147318	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.663000	0.37429	0.697000	0.31718	0.591000	0.81541	GAA		0.398	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		38	66	1	0	2.40579e-17	1	3.11917e-17	38	66				
DFNB31	25861	broad.mit.edu	37	9	117169038	117169038	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117169038G>T	ENST00000362057.3	-	9	2001	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	DFNB31_ENST00000374059.3_Silent_p.S260S|DFNB31_ENST00000265134.6_Silent_p.S228S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	611	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCATGGAGGAAGGTGGCT	0.667																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1831-1833)tcC>tcA		deafness, autosomal recessive 31							52.0	46.0	48.0					9																	117169038		2203	4299	6502	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117169038G>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1833C>A	9.37:g.117169038G>T						DFNB31_ENST00000374059.3_Silent_p.S260S|DFNB31_ENST00000265134.6_Silent_p.S228S	p.S611S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			9	2001	-			611			Pro-rich.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.1833C>A	CCDS6806.1																																																																																				0.667	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		3	25	1	0	0.004672	1	0.0049138	3	25				
PTK6	5753	broad.mit.edu	37	20	62162171	62162171	+	Silent	SNP	G	G	A	rs373406235		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62162171G>A	ENST00000217185.2	-	6	969	c.942C>T	c.(940-942)gcC>gcT	p.A314A	PTK6_ENST00000542869.1_Silent_p.A213A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	314	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	TGTTCCTGGCGGCCAGGTCCC	0.607																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(940-942)gcC>gcT		protein tyrosine kinase 6		G		0,4406		0,0,2203	97.0	84.0	88.0		942	-10.6	0.0	20		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTK6	NM_005975.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		314/452	62162171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62162171G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.942C>T	20.37:g.62162171G>A						PTK6_ENST00000542869.1_Silent_p.A213A	p.A314A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		6	969	-	all_cancers(38;2.51e-11)		314			Protein kinase.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.942C>T	CCDS13524.1																																																																																				0.607	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			17	20	0	0	0	1	0	17	20				
NOP16	51491	broad.mit.edu	37	5	175815519	175815519	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175815519T>C	ENST00000389158.5	-	1	457	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	NOP16_ENST00000507413.1_Missense_Mutation_p.T8A|HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000509257.1_Missense_Mutation_p.T8A|NOP16_ENST00000510123.1_Missense_Mutation_p.T8A			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	8						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TGCCTCCGGGTTTTGCCCTTG	0.602																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(22-24)Acc>Gcc		NOP16 nucleolar protein							64.0	71.0	69.0					5																	175815519		2169	4288	6457	SO:0001583	missense	51491					nucleolus		g.chr5:175815519T>C		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.22A>G	5.37:g.175815519T>C	ENSP00000373810:p.Thr8Ala					NOP16_ENST00000510123.1_Missense_Mutation_p.T8A|NOP16_ENST00000509257.1_Missense_Mutation_p.T8A|NOP16_ENST00000507413.1_Missense_Mutation_p.T8A	p.T8A			Q9Y3C1	NOP16_HUMAN			1	457	-			8					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.22A>G	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.912152	0.33721	.	.	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000507413;ENST00000451293;ENST00000509257	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.24547	0.0595	L	0.29908	0.895	0.27102	N	0.962587	P;B;P;P	0.42456	0.481;0.037;0.78;0.78	B;B;B;B	0.40602	0.3;0.062;0.334;0.334	T	0.04885	-1.0920	8	0.06757	T	0.87	.	10.6483	0.45634	0.0:0.0:0.1602:0.8398	.	8;8;8;8	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	A	8	.	ENSP00000373810:T8A	T	-	1	0	NOP16	175748125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.707000	0.47143	2.203000	0.70933	0.533000	0.62120	ACC		0.602	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		9	62	0	0	0	1	0	9	62				
TRIM42	287015	broad.mit.edu	37	3	140419810	140419810	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140419810C>T	ENST00000286349.3	+	5	2357	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	722						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAGAAGCACTTCTGAGCCC	0.458																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2164-2166)caC>caT		tripartite motif containing 42							107.0	88.0	95.0					3																	140419810		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140419810C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.2166C>T	3.37:g.140419810C>T							p.H722H	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			5	2357	+			722					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.2166C>T	CCDS3113.1																																																																																				0.458	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		15	23	0	0	0	1	0	15	23				
PALB2	79728	broad.mit.edu	37	16	23641564	23641564	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23641564G>T	ENST00000261584.4	-	5	2063	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	637					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTGACTCAAAGGGCTCCACTG	0.413			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1909-1911)ccC>ccA	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							92.0	95.0	94.0					16																	23641564		2196	4299	6495	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641564G>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1911C>A	16.37:g.23641564G>T							p.P637P	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2063	-			637					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.1911C>A	CCDS32406.1																																																																																				0.413	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		7	137	1	0	5.18039e-06	1	5.91835e-06	7	137				
SLITRK5	26050	broad.mit.edu	37	13	88327968	88327968	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:88327968A>C	ENST00000325089.6	+	2	544	c.325A>C	c.(325-327)Att>Ctt	p.I109L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	109					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGGGCTTCAATTTTGCATCT	0.453																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(325-327)Att>Ctt		SLIT and NTRK-like family, member 5							122.0	129.0	127.0					13																	88327968		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327968A>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.325A>C	13.37:g.88327968A>C	ENSP00000366283:p.Ile109Leu					SLITRK5_ENST00000400028.3_Intron	p.I109L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	544	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		109					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.325A>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759293	0.49468	.	.	ENSG00000165300	ENST00000325089	T	0.51817	0.69	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.28274	0.84	0.80722	D	1	P	0.37612	0.602	B	0.43331	0.416	T	0.25467	-1.0131	9	.	.	.	-7.3375	14.3499	0.66694	1.0:0.0:0.0:0.0	.	109	O94991	SLIK5_HUMAN	L	109	ENSP00000366283:I109L	.	I	+	1	0	SLITRK5	87125969	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.357000	0.73051	2.279000	0.76181	0.459000	0.35465	ATT		0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			58	91	0	0	0	1	0	58	91				
SIKE1	80143	broad.mit.edu	37	1	115321893	115321893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115321893G>A	ENST00000060969.5	-	3	347	c.278C>T	c.(277-279)tCc>tTc	p.S93F	SIKE1_ENST00000369528.5_Missense_Mutation_p.S97F|SIKE1_ENST00000506320.1_5'UTR			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	93					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCCTCCAAGGAAATCCATAG	0.388																																						ENST00000369528.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(289-291)tCc>tTc		suppressor of IKBKE 1							104.0	101.0	102.0					1																	115321893		2203	4300	6503	SO:0001583	missense	80143					cytosol	protein binding	g.chr1:115321893G>A	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"""suppressor of IKK epsilon"""	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.278C>T	1.37:g.115321893G>A	ENSP00000060969:p.Ser93Phe					SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Missense_Mutation_p.S93F	p.S97F	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN			3	367	-			93					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Missense_Mutation	SNP	ENST00000060969.5	37	c.290C>T	CCDS878.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870669	0.91587	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77890	-0.2419	9	0.48119	T	0.1	-3.8998	20.2052	0.98274	0.0:0.0:1.0:0.0	.	97;93	Q9BRV8-2;Q9BRV8	.;SIKE1_HUMAN	F	97;93	.	ENSP00000060969:S93F	S	-	2	0	SIKE1	115123416	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.880000	0.92407	2.873000	0.98535	0.563000	0.77884	TCC		0.388	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073		5	79	0	0	0	1	0	5	79				
ZBTB10	65986	broad.mit.edu	37	8	81412269	81412269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81412269C>T	ENST00000430430.1	+	3	2292	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	ZBTB10_ENST00000455036.3_Missense_Mutation_p.R505W|ZBTB10_ENST00000426744.2_Missense_Mutation_p.R505W|ZBTB10_ENST00000379091.4_Missense_Mutation_p.R213W	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTGGGCAACACGGAATCTTAC	0.373																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(1513-1515)Cgg>Tgg		zinc finger and BTB domain containing 10							120.0	120.0	120.0					8																	81412269		1840	4085	5925	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81412269C>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1513C>T	8.37:g.81412269C>T	ENSP00000387462:p.Arg505Trp					ZBTB10_ENST00000379091.4_Missense_Mutation_p.R213W|ZBTB10_ENST00000455036.3_Missense_Mutation_p.R505W|ZBTB10_ENST00000426744.2_Missense_Mutation_p.R505W	p.R505W	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		3	2292	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		505					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.1513C>T	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453585	0.63290	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.11604	2.83;2.78;2.78;2.76	5.81	3.9	0.45041	.	0.282767	0.32785	N	0.005647	T	0.15219	0.0367	N	0.19112	0.55	0.35753	D	0.819554	D;D;D;D	0.76494	0.989;0.999;0.999;0.996	B;P;P;P	0.56700	0.409;0.642;0.804;0.631	T	0.23368	-1.0190	10	0.72032	D	0.01	.	14.9684	0.71213	0.2597:0.7403:0.0:0.0	.	361;505;505;213	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	W	213;505;505;505;333	ENSP00000368384:R213W;ENSP00000387462:R505W;ENSP00000412036:R505W;ENSP00000416134:R505W	ENSP00000368384:R213W	R	+	1	2	ZBTB10	81574824	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	1.955000	0.40372	1.409000	0.46915	0.650000	0.86243	CGG		0.373	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		10	111	0	0	0	1	0	10	111				
RTN4RL1	146760	broad.mit.edu	37	17	1840632	1840632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840632C>T	ENST00000331238.6	-	2	963	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGAGGTACTCGATGTGGTTG	0.632																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(484-486)Gag>Aag		reticulon 4 receptor-like 1							41.0	47.0	45.0					17																	1840632		2135	4238	6373	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840632C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.484G>A	17.37:g.1840632C>T	ENSP00000330631:p.Glu162Lys						p.E162K	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	502	-			162						Missense_Mutation	SNP	ENST00000331238.6	37	c.484G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907364	0.33628	.	.	ENSG00000185924	ENST00000331238	T	0.02421	4.3	5.52	5.52	0.82312	.	0.000000	0.39759	N	0.001276	T	0.04318	0.0119	L	0.45422	1.42	0.53688	D	0.999979	B	0.19073	0.033	B	0.17433	0.018	T	0.51004	-0.8760	10	0.15066	T	0.55	.	19.5036	0.95105	0.0:1.0:0.0:0.0	.	162	Q86UN2	R4RL1_HUMAN	K	162	ENSP00000330631:E162K	ENSP00000330631:E162K	E	-	1	0	RTN4RL1	1787382	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.821000	0.62679	2.611000	0.88343	0.644000	0.83932	GAG		0.632	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		6	44	0	0	0	1	0	6	44				
C16orf71	146562	broad.mit.edu	37	16	4794893	4794893	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4794893C>T	ENST00000299320.5	+	6	1402	c.924C>T	c.(922-924)caC>caT	p.H308H	C16orf71_ENST00000590191.1_Silent_p.H322H|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	308										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGAGCGCCCACAACAGGCTCA	0.622																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(922-924)caC>caT		chromosome 16 open reading frame 71							58.0	51.0	53.0					16																	4794893		2197	4300	6497	SO:0001819	synonymous_variant	146562							g.chr16:4794893C>T	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.924C>T	16.37:g.4794893C>T						C16orf71_ENST00000590191.1_Silent_p.H322H|RP11-127I20.7_ENST00000588099.1_RNA	p.H308H	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			6	1402	+			308					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.924C>T	CCDS10521.1																																																																																				0.622	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		11	21	0	0	0	1	0	11	21				
TRMT13	54482	broad.mit.edu	37	1	100609634	100609634	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100609634C>A	ENST00000370141.2	+	9	758	c.752C>A	c.(751-753)cCt>cAt	p.P251H	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	251					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GACAAGATTCCTGTGCTAAGA	0.348																																						ENST00000370141.2																			0											c.(751-753)cCt>cAt		tRNA methyltransferase 13 homolog (S. cerevisiae)							90.0	87.0	88.0					1																	100609634		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100609634C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.752C>A	1.37:g.100609634C>A	ENSP00000359160:p.Pro251His					TRMT13_ENST00000493651.1_3'UTR	p.P251H	NM_019083.2	NP_061956.2					9	758	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.752C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372847	0.61624	.	.	ENSG00000122435	ENST00000370141	T	0.47869	0.83	5.77	5.77	0.91146	Methyltransferase TRM13 (1);	0.050326	0.85682	D	0.000000	T	0.70727	0.3257	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.71192	-0.4665	10	0.40728	T	0.16	-7.5366	19.9915	0.97366	0.0:1.0:0.0:0.0	.	237;251	B4DQS9;Q9NUP7	.;TRM13_HUMAN	H	251	ENSP00000359160:P251H	ENSP00000359160:P251H	P	+	2	0	CCDC76	100382222	1.000000	0.71417	0.992000	0.48379	0.432000	0.31715	5.163000	0.64948	2.723000	0.93209	0.655000	0.94253	CCT		0.348	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		17	53	1	0	3.57192e-18	1	4.65187e-18	17	53				
FREM2	341640	broad.mit.edu	37	13	39262270	39262270	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39262270C>T	ENST00000280481.7	+	1	1005	c.789C>T	c.(787-789)ggC>ggT	p.G263G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	263					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAACTAGGCGTGCGCTATC	0.632																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(787-789)ggC>ggT		FRAS1 related extracellular matrix protein 2							53.0	58.0	57.0					13																	39262270		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262270C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.789C>T	13.37:g.39262270C>T							p.G263G	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1005	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	263					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.789C>T	CCDS31960.1																																																																																				0.632	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		29	37	0	0	0	1	0	29	37				
INTS2	57508	broad.mit.edu	37	17	59955432	59955432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59955432C>A	ENST00000444766.3	-	18	2371	c.2296G>T	c.(2296-2298)Gta>Tta	p.V766L	INTS2_ENST00000251334.6_Missense_Mutation_p.V758L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	766					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTGTTATTTACTGGGACAGCT	0.363																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(2296-2298)Gta>Tta		integrator complex subunit 2							101.0	91.0	94.0					17																	59955432		1852	4104	5956	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59955432C>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2296G>T	17.37:g.59955432C>A	ENSP00000414237:p.Val766Leu					INTS2_ENST00000251334.6_Missense_Mutation_p.V758L	p.V766L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			18	2371	-			766					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.2296G>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796784	0.31777	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.41065	1.01	5.56	5.56	0.83823	.	0.256198	0.40064	N	0.001195	T	0.20618	0.0496	N	0.04203	-0.255	0.28351	N	0.920881	B	0.02656	0.0	B	0.04013	0.001	T	0.10941	-1.0608	9	.	.	.	-14.2795	11.9101	0.52735	0.0:0.9208:0.0:0.0792	.	766	Q9H0H0	INT2_HUMAN	L	766;765	ENSP00000414237:V766L	.	V	-	1	0	INTS2	57310214	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.778000	0.55371	2.585000	0.87301	0.650000	0.86243	GTA		0.363	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		17	40	1	0	4.7546e-09	1	5.74312e-09	17	40				
CEP350	9857	broad.mit.edu	37	1	179983260	179983260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179983260G>A	ENST00000367607.3	+	10	2090	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	558					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTCATCAGCACCAGTACA	0.433																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(1672-1674)Gca>Aca		centrosomal protein 350kDa							42.0	37.0	38.0					1																	179983260		2202	4300	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179983260G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1672G>A	1.37:g.179983260G>A	ENSP00000356579:p.Ala558Thr						p.A558T	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			10	2090	+			558					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1672G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911466	0.33721	.	.	ENSG00000135837	ENST00000367607	D	0.89681	-2.55	5.6	2.53	0.30540	.	0.311060	0.23028	N	0.052772	D	0.82604	0.5073	L	0.56769	1.78	0.09310	N	1	B;B	0.15719	0.013;0.014	B;B	0.09377	0.003;0.004	T	0.67864	-0.5560	9	.	.	.	.	3.8184	0.08825	0.0835:0.1398:0.5428:0.2339	.	558;558	E7EU22;Q5VT06	.;CE350_HUMAN	T	558	ENSP00000356579:A558T	.	A	+	1	0	CEP350	178249883	0.135000	0.22499	0.079000	0.20413	0.926000	0.56050	0.843000	0.27640	0.833000	0.34828	0.650000	0.86243	GCA		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		11	6	0	0	0	1	0	11	6				
LOXL2	4017	broad.mit.edu	37	8	23155602	23155602	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23155602A>G	ENST00000389131.3	-	14	2648	c.2279T>C	c.(2278-2280)tTt>tCt	p.F760S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	760					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GAAGTGCTCAAACTTTTTTTC	0.537																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2278-2280)tTt>tCt		lysyl oxidase-like 2							76.0	72.0	74.0					8																	23155602		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23155602A>G	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2279T>C	8.37:g.23155602A>G	ENSP00000373783:p.Phe760Ser						p.F760S	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	14	2648	-		Prostate(55;0.0453)|Breast(100;0.143)	760					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.2279T>C	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958717	0.53400	.	.	ENSG00000134013	ENST00000389131	T	0.01474	4.85	5.3	5.3	0.74995	.	0.047302	0.85682	D	0.000000	T	0.04092	0.0114	M	0.79258	2.445	0.49051	D	0.999749	P	0.48640	0.913	B	0.40741	0.339	T	0.28235	-1.0050	10	0.72032	D	0.01	.	13.1971	0.59745	1.0:0.0:0.0:0.0	.	760	Q9Y4K0	LOXL2_HUMAN	S	760	ENSP00000373783:F760S	ENSP00000373783:F760S	F	-	2	0	LOXL2	23211547	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	8.582000	0.90791	2.018000	0.59344	0.368000	0.22195	TTT		0.537	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			4	20	0	0	0	1	0	4	20				
DCAF11	80344	broad.mit.edu	37	14	24588928	24588928	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24588928C>A	ENST00000446197.3	+	11	1642	c.915C>A	c.(913-915)tcC>tcA	p.S305S	DCAF11_ENST00000396941.4_Silent_p.S279S|DCAF11_ENST00000396936.1_Silent_p.S205S|DCAF11_ENST00000559115.1_Silent_p.S305S|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	305					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											AGATTGAGTCCCATGAGGATG	0.483																																						ENST00000446197.3																			0											c.(913-915)tcC>tcA		DDB1 and CUL4 associated factor 11							107.0	98.0	101.0					14																	24588928		2203	4300	6503	SO:0001819	synonymous_variant	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24588928C>A	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.915C>A	14.37:g.24588928C>A						DCAF11_ENST00000559115.1_Silent_p.S305S|DCAF11_ENST00000396936.1_Silent_p.S205S|DCAF11_ENST00000396941.4_Silent_p.S279S	p.S305S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1642	+			305					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Silent	SNP	ENST00000446197.3	37	c.915C>A	CCDS9610.1																																																																																				0.483	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			21	41	1	0	5.35356e-11	1	6.64197e-11	21	41				
ZDHHC3	51304	broad.mit.edu	37	3	45000730	45000730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45000730G>A	ENST00000424952.2	-	2	467	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	ZDHHC3_ENST00000342790.4_Silent_p.L67L|ZDHHC3_ENST00000296127.3_Silent_p.L67L	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	67					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GATGGAATCAGCATGACAAAG	0.552																																						ENST00000296127.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(199-201)Ctg>Ttg		zinc finger, DHHC-type containing 3							130.0	120.0	123.0					3																	45000730		2203	4300	6503	SO:0001819	synonymous_variant	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:45000730G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.199C>T	3.37:g.45000730G>A						ZDHHC3_ENST00000424952.2_Silent_p.L67L|ZDHHC3_ENST00000342790.4_Silent_p.L67L	p.L67L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	2	472	-			67					Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	c.199C>T	CCDS46811.1																																																																																				0.552	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		10	78	0	0	0	1	0	10	78				
CC2D2A	57545	broad.mit.edu	37	4	15581678	15581678	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15581678C>A	ENST00000503292.1	+	31	4039	c.3859C>A	c.(3859-3861)Ctt>Att	p.L1287I	CC2D2A_ENST00000413206.1_Missense_Mutation_p.L1287I|CC2D2A_ENST00000389652.5_Missense_Mutation_p.L1179I|CC2D2A_ENST00000424120.1_Missense_Mutation_p.L1287I	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1287					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCGTCAGTGCCTTACAACAGT	0.368																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(3859-3861)Ctt>Att		coiled-coil and C2 domain containing 2A							126.0	120.0	122.0					4																	15581678		1847	4108	5955	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15581678C>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3859C>A	4.37:g.15581678C>A	ENSP00000421809:p.Leu1287Ile					CC2D2A_ENST00000413206.1_Missense_Mutation_p.L1287I|CC2D2A_ENST00000503292.1_Missense_Mutation_p.L1287I|CC2D2A_ENST00000389652.5_Missense_Mutation_p.L1179I	p.L1287I			Q9P2K1	C2D2A_HUMAN			30	4113	+			1287					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.3859C>A	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	3.704	-0.060991	0.07317	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	5.16	4.32	0.51571	.	0.302208	0.31697	N	0.007215	D	0.89938	0.6860	L	0.52266	1.64	0.80722	D	1	B;B	0.26081	0.141;0.038	B;B	0.29524	0.103;0.03	D	0.85539	0.1214	10	0.31617	T	0.26	.	9.7302	0.40357	0.0:0.7821:0.1416:0.0763	.	1287;1179	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	I	1287;1287;1179;1179;1287;1179	ENSP00000403465:L1287I;ENSP00000398391:L1287I;ENSP00000421809:L1287I;ENSP00000374303:L1179I	ENSP00000374303:L1179I	L	+	1	0	CC2D2A	15190776	1.000000	0.71417	0.931000	0.37212	0.597000	0.36814	0.829000	0.27449	1.178000	0.42870	0.650000	0.86243	CTT		0.368	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		4	94	1	0	0.150653	1	0.152692	4	94				
C10orf76	79591	broad.mit.edu	37	10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1255-1257)Cga>Tga		chromosome 10 open reading frame 76							105.0	98.0	100.0					10																	103753315		1815	4071	5886	SO:0001587	stop_gained	79591					integral to membrane		g.chr10:103753315G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1255C>T	10.37:g.103753315G>A	ENSP00000359050:p.Arg419*						p.R419*	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	17	1374	-		Colorectal(252;0.123)	419					Q2TB87|Q9H8Z9	Nonsense_Mutation	SNP	ENST00000370033.4	37	c.1255C>T	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	36	5.971913	0.97162	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.75	4.85	0.62838	.	0.055918	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9236	14.7233	0.69323	0.0694:0.0:0.9306:0.0	.	.	.	.	X	419	.	ENSP00000359050:R419X	R	-	1	2	C10orf76	103743305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	1.445000	0.47624	0.491000	0.48974	CGA		0.313	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		24	40	0	0	0	1	0	24	40				
UBR4	23352	broad.mit.edu	37	1	19464554	19464554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19464554G>A	ENST00000375254.3	-	60	8880	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	UBR4_ENST00000375226.2_Silent_p.G2927G|UBR4_ENST00000375267.2_Silent_p.G2951G|UBR4_ENST00000375217.2_Silent_p.G2944G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2951					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ctccctcGGAGCCATCTCCCT	0.557																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8851-8853)ggC>ggT		ubiquitin protein ligase E3 component n-recognin 4							66.0	65.0	65.0					1																	19464554		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19464554G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8853C>T	1.37:g.19464554G>A						UBR4_ENST00000375254.3_Silent_p.G2951G|UBR4_ENST00000375217.2_Silent_p.G2944G|UBR4_ENST00000375226.2_Silent_p.G2927G	p.G2951G			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	60	8856	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2951					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.8853C>T	CCDS189.1																																																																																				0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		15	22	0	0	0	1	0	15	22				
FGD6	55785	broad.mit.edu	37	12	95535181	95535181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95535181C>A	ENST00000343958.4	-	6	3043	c.2820G>T	c.(2818-2820)gaG>gaT	p.E940D	FGD6_ENST00000546711.1_Missense_Mutation_p.E940D|FGD6_ENST00000549499.1_Missense_Mutation_p.E940D	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	940	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACATTCTTTCCTCCAGTTCCT	0.428																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2818-2820)gaG>gaT		FYVE, RhoGEF and PH domain containing 6							125.0	124.0	124.0					12																	95535181		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535181C>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2820G>T	12.37:g.95535181C>A	ENSP00000344446:p.Glu940Asp					FGD6_ENST00000549499.1_Missense_Mutation_p.E940D|FGD6_ENST00000546711.1_Missense_Mutation_p.E940D	p.E940D	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			6	3043	-			940			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2820G>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702443	0.68501	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68181	-0.31;-0.31;-0.31	5.79	0.178	0.15058	Dbl homology (DH) domain (5);	0.000000	0.49305	D	0.000146	T	0.76695	0.4023	M	0.66439	2.03	0.44454	D	0.997388	D	0.76494	0.999	D	0.72338	0.977	T	0.76961	-0.2765	10	0.66056	D	0.02	-27.3915	12.5419	0.56174	0.0:0.5683:0.0:0.4317	.	940	Q6ZV73	FGD6_HUMAN	D	940	ENSP00000344446:E940D;ENSP00000450342:E940D;ENSP00000449005:E940D	ENSP00000344446:E940D	E	-	3	2	FGD6	94059312	0.999000	0.42202	0.996000	0.52242	0.963000	0.63663	0.662000	0.25038	0.083000	0.17047	0.655000	0.94253	GAG		0.428	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		4	63	1	0	0.00909568	1	0.00947522	4	63				
CCSER1	401145	broad.mit.edu	37	4	91230488	91230488	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:91230488A>G	ENST00000509176.1	+	2	1341	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	CCSER1_ENST00000432775.2_Silent_p.Q351Q|CCSER1_ENST00000333691.8_Silent_p.Q351Q	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	351																	TGTTATTACAAATTGCTGAAC	0.393																																						ENST00000509176.1																			0											c.(1051-1053)caA>caG		coiled-coil serine-rich protein 1							99.0	94.0	95.0					4																	91230488		1860	4104	5964	SO:0001819	synonymous_variant	401145							g.chr4:91230488A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1053A>G	4.37:g.91230488A>G						CCSER1_ENST00000333691.8_Silent_p.Q351Q|CCSER1_ENST00000432775.2_Silent_p.Q351Q	p.Q351Q	NM_001145065.1	NP_001138537.1					2	1341	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1053A>G	CCDS47099.1																																																																																				0.393	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		8	43	0	0	0	1	0	8	43				
RANBP6	26953	broad.mit.edu	37	9	6012454	6012454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6012454C>A	ENST00000259569.5	-	1	3164	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1052					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTTTCCTTCTGCAATTATA	0.373																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(3154-3156)Gaa>Taa		RAN binding protein 6							81.0	76.0	78.0					9																	6012454		2203	4300	6503	SO:0001587	stop_gained	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012454C>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.3154G>T	9.37:g.6012454C>A	ENSP00000259569:p.Glu1052*						p.E1052*	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	3164	-		Acute lymphoblastic leukemia(23;0.158)	1052					Q5T7X4|Q7Z3V2|Q96E78	Nonsense_Mutation	SNP	ENST00000259569.5	37	c.3154G>T	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	38	7.171643	0.98111	.	.	ENSG00000137040	ENST00000259569	.	.	.	4.67	4.67	0.58626	.	0.050287	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.7458	15.8947	0.79325	0.0:1.0:0.0:0.0	.	.	.	.	X	1052	.	ENSP00000259569:E1052X	E	-	1	0	RANBP6	6002454	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	2.957000	0.49137	2.882000	0.98803	0.655000	0.94253	GAA		0.373	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		6	55	1	0	2.0095e-06	1	2.31757e-06	6	55				
MTHFR	4524	broad.mit.edu	37	1	11854129	11854129	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854129C>A	ENST00000376592.1	-	8	1493	c.1365G>T	c.(1363-1365)tgG>tgT	p.W455C	MTHFR_ENST00000376590.3_Missense_Mutation_p.W455C|MTHFR_ENST00000376583.3_Missense_Mutation_p.W496C|MTHFR_ENST00000376585.1_Missense_Mutation_p.W496C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	455					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GCTCATCGTTCCAGGGCAGGC	0.637																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1363-1365)tgG>tgT		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						67.0	70.0	69.0					1																	11854129		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11854129C>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1365G>T	1.37:g.11854129C>A	ENSP00000365777:p.Trp455Cys					MTHFR_ENST00000376583.3_Missense_Mutation_p.W496C|MTHFR_ENST00000376585.1_Missense_Mutation_p.W496C|MTHFR_ENST00000376590.3_Missense_Mutation_p.W455C	p.W455C			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	8	1493	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	455					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.1365G>T	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685168	0.68157	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.92475	0.5988	10	0.87932	D	0	.	16.659	0.85236	0.0:1.0:0.0:0.0	.	455;496	P42898;Q5SNW6	MTHR_HUMAN;.	C	455;496;455;496	ENSP00000365777:W455C;ENSP00000365767:W496C;ENSP00000365775:W455C;ENSP00000365770:W496C	ENSP00000365767:W496C	W	-	3	0	MTHFR	11776716	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.380000	0.79704	2.176000	0.68965	0.455000	0.32223	TGG		0.637	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		30	40	1	0	2.12542e-12	1	2.67336e-12	30	40				
TENM2	57451	broad.mit.edu	37	5	167671627	167671627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167671627C>T	ENST00000518659.1	+	26	5762	c.5723C>T	c.(5722-5724)gCc>gTc	p.A1908V	TENM2_ENST00000520394.1_Missense_Mutation_p.A1669V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1907V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1787V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1732V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1908					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGCGTGGGGCCATGAGCGAG	0.617																																						ENST00000519204.1																			0											c.(5359-5361)gCc>gTc		teneurin transmembrane protein 2							63.0	73.0	69.0					5																	167671627		2100	4243	6343	SO:0001583	missense	57451							g.chr5:167671627C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5723C>T	5.37:g.167671627C>T	ENSP00000429430:p.Ala1908Val					TENM2_ENST00000520394.1_Missense_Mutation_p.A1669V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1732V|TENM2_ENST00000518659.1_Missense_Mutation_p.A1908V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1907V	p.A1787V							25	5478	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5360C>T		.	.	.	.	.	.	.	.	.	.	C	16.70	3.196945	0.58126	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89485	-2.05;-2.04;-2.15;-2.52;-2.52	4.92	4.92	0.64577	.	0.180955	0.64402	D	0.000013	T	0.76227	0.3958	N	0.03608	-0.345	0.50171	D	0.999857	B;B;P	0.41848	0.321;0.107;0.763	B;B;B	0.35550	0.205;0.041;0.167	T	0.80598	-0.1311	10	0.41790	T	0.15	.	18.1467	0.89659	0.0:1.0:0.0:0.0	.	1907;1908;1669	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1908;1907;1787;1669;1732	ENSP00000429430:A1908V;ENSP00000438635:A1907V;ENSP00000428964:A1787V;ENSP00000427874:A1669V;ENSP00000384905:A1732V	ENSP00000384905:A1732V	A	+	2	0	ODZ2	167604205	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.960000	0.56752	2.285000	0.76669	0.655000	0.94253	GCC		0.617	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		18	41	0	0	0	1	0	18	41				
AMELX	265	broad.mit.edu	37	X	11316260	11316260	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11316260C>T	ENST00000380714.3	+	4	170				AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.A47V	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked						biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GACAGGACTGCATTAGTGAGT	0.358																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(139-141)gCa>gTa		amelogenin, X-linked							257.0	247.0	251.0					X																	11316260		2203	4300	6503	SO:0001627	intron_variant	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316260C>T		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.103-96C>T	X.37:g.11316260C>T						ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Intron|AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron	p.A47V	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN			4	208	+			34					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.140C>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	3.645	-0.072654	0.07228	.	.	ENSG00000125363	ENST00000380712	.	.	.	4.65	0.427	0.16489	.	0.845518	0.09636	N	0.775585	T	0.29158	0.0725	.	.	.	0.19945	N	0.999945	B	0.26809	0.16	B	0.24848	0.056	T	0.23476	-1.0187	8	0.39692	T	0.17	6.2325	8.1631	0.31211	0.1706:0.3362:0.4932:0.0	.	47	Q99217-3	.	V	47	.	ENSP00000370088:A47V	A	+	2	0	AMELX	11226181	0.179000	0.23135	0.855000	0.33649	0.618000	0.37518	0.259000	0.18405	0.132000	0.18615	-1.611000	0.00801	GCA		0.358	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		30	323	0	0	0	1	0	30	323				
PRICKLE1	144165	broad.mit.edu	37	12	42860069	42860069	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42860069G>A	ENST00000455697.1	-	6	987	c.702C>T	c.(700-702)gaC>gaT	p.D234D	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.D234D|PRICKLE1_ENST00000445766.2_Silent_p.D234D|PRICKLE1_ENST00000345127.3_Silent_p.D234D|PRICKLE1_ENST00000548696.1_Silent_p.D234D	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	234	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGGGGCGGCCGTCCTTCATGA	0.542																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(700-702)gaC>gaT		prickle homolog 1 (Drosophila)							95.0	81.0	85.0					12																	42860069		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860069G>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.702C>T	12.37:g.42860069G>A						PRICKLE1_ENST00000552240.1_Silent_p.D234D|PRICKLE1_ENST00000345127.3_Silent_p.D234D|PRICKLE1_ENST00000548696.1_Silent_p.D234D|PRICKLE1_ENST00000445766.2_Silent_p.D234D	p.D234D	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	987	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		234			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	c.702C>T	CCDS8742.1																																																																																				0.542	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			5	41	0	0	0	1	0	5	41				
NINJ1	4814	broad.mit.edu	37	9	95888857	95888857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95888857C>T	ENST00000375446.4	-	2	209	c.139G>A	c.(139-141)Gca>Aca	p.A47T	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	47					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTCTCGGCTGCGCTCTTCTTG	0.667																																						ENST00000375446.4																			0				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						c.(139-141)Gca>Aca		ninjurin 1							101.0	82.0	88.0					9																	95888857		2203	4300	6503	SO:0001583	missense	4814				cell adhesion|nervous system development|tissue regeneration	integral to membrane		g.chr9:95888857C>T	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.139G>A	9.37:g.95888857C>T	ENSP00000364595:p.Ala47Thr						p.A47T	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN			2	209	-			47					Q6GU89|Q8WUV5|Q9BT07	Missense_Mutation	SNP	ENST00000375446.4	37	c.139G>A	CCDS6703.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456080	0.84209	.	.	ENSG00000131669	ENST00000375446	T	0.41065	1.01	4.49	3.59	0.41128	.	0.049044	0.85682	D	0.000000	T	0.54382	0.1855	L	0.47716	1.5	0.50039	D	0.99984	D	0.89917	1.0	D	0.74348	0.983	T	0.56498	-0.7969	10	0.66056	D	0.02	-5.6987	11.6202	0.51113	0.0:0.9115:0.0:0.0885	.	47	Q92982	NINJ1_HUMAN	T	47	ENSP00000364595:A47T	ENSP00000364595:A47T	A	-	1	0	NINJ1	94928678	1.000000	0.71417	0.336000	0.25522	0.860000	0.49131	7.393000	0.79851	1.252000	0.44001	0.462000	0.41574	GCA		0.667	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148		17	35	0	0	0	1	0	17	35				
XDH	7498	broad.mit.edu	37	2	31591522	31591522	+	Missense_Mutation	SNP	G	G	A	rs374486058		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591522G>A	ENST00000379416.3	-	19	2033	c.1985C>T	c.(1984-1986)aCt>aTt	p.T662I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	662					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCCAACACAAGTAACCTAGTA	0.468																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1984-1986)aCt>aTt		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	103.0	97.0	99.0		1985	6.2	1.0	2		99	0,8600		0,0,4300	no	missense	XDH	NM_000379.3	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	662/1334	31591522	1,13005	2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31591522G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1985C>T	2.37:g.31591522G>A	ENSP00000368727:p.Thr662Ile						p.T662I	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			19	2033	-	Acute lymphoblastic leukemia(172;0.155)		662					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1985C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723490	0.68959	2.27E-4	0.0	ENSG00000158125	ENST00000379416	T	0.11063	2.81	6.17	6.17	0.99709	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.63428	1.95	0.80722	D	1	D	0.59357	0.985	P	0.60886	0.88	T	0.00657	-1.1623	10	0.15499	T	0.54	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	662	P47989	XDH_HUMAN	I	662	ENSP00000368727:T662I	ENSP00000368727:T662I	T	-	2	0	XDH	31445026	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.549000	0.98106	2.941000	0.99782	0.655000	0.94253	ACT		0.468	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		31	50	0	0	0	1	0	31	50				
SACS	26278	broad.mit.edu	37	13	23929924	23929924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23929924C>T	ENST00000382292.3	-	7	1100	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.R276H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	276					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R129H(2)|p.R276H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTTGTAGGCGAAGAGGGAA	0.413																																						ENST00000382298.3																			3	Substitution - Missense(3)	p.R129H(2)|p.R276H(1)	lung(2)|large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(826-828)cGc>cAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							106.0	102.0	103.0					13																	23929924		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929924C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.827G>A	13.37:g.23929924C>T	ENSP00000371729:p.Arg276His					SACS_ENST00000382292.3_Missense_Mutation_p.R276H|SACS_ENST00000402364.1_5'UTR	p.R276H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1415	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	276					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.827G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	30	5.050368	0.93740	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.96041	-3.89;-3.89	5.64	5.64	0.86602	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98260	1.0498	10	0.56958	D	0.05	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	175;63;276	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	H	276	ENSP00000371729:R276H;ENSP00000371735:R276H	ENSP00000371729:R276H	R	-	2	0	SACS	22827924	1.000000	0.71417	0.986000	0.45419	0.853000	0.48598	7.776000	0.85560	2.820000	0.97059	0.650000	0.86243	CGC		0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		18	37	0	0	0	1	0	18	37				
ZFYVE26	23503	broad.mit.edu	37	14	68251862	68251862	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68251862C>A	ENST00000347230.4	-	19	3575	c.3437G>T	c.(3436-3438)aGc>aTc	p.S1146I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1146I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1146					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTGCCTGCTGCCTGATGG	0.562																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(3436-3438)aGc>aTc		zinc finger, FYVE domain containing 26							132.0	131.0	131.0					14																	68251862		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68251862C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3437G>T	14.37:g.68251862C>A	ENSP00000251119:p.Ser1146Ile					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1146I	p.S1146I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	19	3575	-			1146					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.3437G>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	4.484	0.089765	0.08632	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28895	1.73;1.59	5.54	0.853	0.19001	.	0.803834	0.12279	N	0.483079	T	0.20981	0.0505	L	0.44542	1.39	0.09310	N	1	P;B	0.34757	0.467;0.229	B;B	0.34242	0.178;0.054	T	0.22173	-1.0224	10	0.52906	T	0.07	0.308	1.6184	0.02708	0.1546:0.4722:0.1497:0.2234	.	1146;1146	G3V2D8;Q68DK2	.;ZFY26_HUMAN	I	1146;1125;1146	ENSP00000251119:S1146I;ENSP00000450603:S1146I	ENSP00000251119:S1146I	S	-	2	0	ZFYVE26	67321615	0.000000	0.05858	0.001000	0.08648	0.192000	0.23643	-0.315000	0.08081	0.081000	0.16988	0.655000	0.94253	AGC		0.562	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		12	97	1	0	0.000978159	1	0.00105116	12	97				
GPR1	2825	broad.mit.edu	37	2	207041404	207041404	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207041404T>C	ENST00000407325.2	-	3	930	c.568A>G	c.(568-570)Aat>Gat	p.N190D	GPR1_ENST00000437420.1_Missense_Mutation_p.N190D	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	190					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCTGAAAATTGTTATAGCAA	0.418																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(568-570)Aat>Gat		G protein-coupled receptor 1							79.0	80.0	79.0					2																	207041404		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041404T>C		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.568A>G	2.37:g.207041404T>C	ENSP00000384345:p.Asn190Asp					GPR1_ENST00000437420.1_Missense_Mutation_p.N190D	p.N190D	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	930	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	190					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.568A>G	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258846	0.59321	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134	T;T;T	0.35605	1.3;1.3;1.3	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.051349	0.85682	D	0.000000	T	0.35189	0.0923	L	0.37697	1.125	0.52099	D	0.99994	P	0.39424	0.673	B	0.40677	0.337	T	0.12451	-1.0547	10	0.52906	T	0.07	.	16.2473	0.82450	0.0:0.0:0.0:1.0	.	190	P46091	GPR1_HUMAN	D	190	ENSP00000384345:N190D;ENSP00000397535:N190D;ENSP00000414836:N190D	ENSP00000384345:N190D	N	-	1	0	GPR1	206749649	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.245000	0.72398	2.238000	0.73509	0.533000	0.62120	AAT		0.418	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		34	33	0	0	0	1	0	34	33				
AURKA	6790	broad.mit.edu	37	20	54961320	54961320	+	Silent	SNP	C	C	T	rs550700105		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:54961320C>T	ENST00000347343.2	-	3	579	c.312G>A	c.(310-312)tcG>tcA	p.S104S	AURKA_ENST00000312783.6_Silent_p.S104S|AURKA_ENST00000395911.1_Silent_p.S104S|AURKA_ENST00000395915.3_Silent_p.S104S|AURKA_ENST00000371356.2_Silent_p.S104S|AURKA_ENST00000395914.1_Silent_p.S104S|AURKA_ENST00000395907.1_Silent_p.S104S|AURKA_ENST00000395909.4_Silent_p.S104S|AURKA_ENST00000395913.3_Silent_p.S104S	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	104			S -> L (in dbSNP:rs2230743).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TACCAGGTGCCGATGGCAGGG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		21639	0.0		0.0	False		,,,				2504	0.001				Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(310-312)tcG>tcA		aurora kinase A							147.0	127.0	134.0					20																	54961320		2203	4300	6503	SO:0001819	synonymous_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54961320C>T	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.312G>A	20.37:g.54961320C>T						AURKA_ENST00000371356.2_Silent_p.S104S|AURKA_ENST00000395913.3_Silent_p.S104S|AURKA_ENST00000395907.1_Silent_p.S104S|AURKA_ENST00000395914.1_Silent_p.S104S|AURKA_ENST00000312783.6_Silent_p.S104S|AURKA_ENST00000395915.3_Silent_p.S104S|AURKA_ENST00000347343.2_Silent_p.S104S|AURKA_ENST00000395911.1_Silent_p.S104S	p.S104S	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		5	877	-			104		S -> L (in dbSNP:rs2230743).			E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Silent	SNP	ENST00000347343.2	37	c.312G>A	CCDS13451.1																																																																																				0.463	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		13	89	0	0	0	1	0	13	89				
KBTBD12	166348	broad.mit.edu	37	3	127642601	127642601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642601G>T	ENST00000405109.1	+	2	1164	c.697G>T	c.(697-699)Gcc>Tcc	p.A233S	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A233S			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	233	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTTAAGACAAGCCCTAAGAAG	0.383																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(697-699)Gcc>Tcc		kelch repeat and BTB (POZ) domain containing 12							106.0	99.0	101.0					3																	127642601		1920	4118	6038	SO:0001583	missense	166348							g.chr3:127642601G>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.697G>T	3.37:g.127642601G>T	ENSP00000385957:p.Ala233Ser					KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A233S|KBTBD12_ENST00000407609.3_Intron	p.A233S			Q3ZCT8	KBTBC_HUMAN			2	1164	+			233			BACK.		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.697G>T	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691381	0.48097	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.68903	-0.36;-0.36	5.77	5.77	0.91146	BTB/Kelch-associated (2);	.	.	.	.	T	0.59797	0.2220	L	0.34521	1.04	0.33518	D	0.591963	P	0.39094	0.659	B	0.38880	0.284	T	0.63950	-0.6521	9	0.21540	T	0.41	.	19.9913	0.97366	0.0:0.0:1.0:0.0	.	233	Q3ZCT8	KBTBC_HUMAN	S	233	ENSP00000385957:A233S;ENSP00000385879:A233S	ENSP00000385957:A233S	A	+	1	0	KBTBD12	129125291	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.121000	0.64691	2.734000	0.93682	0.585000	0.79938	GCC		0.383	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		10	67	1	0	2.17888e-05	1	2.45068e-05	10	67				
HCAR1	27198	broad.mit.edu	37	12	123214100	123214100	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123214100T>C	ENST00000436083.2	-	1	1290	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	HCAR1_ENST00000356987.2_Missense_Mutation_p.T263A|HCAR1_ENST00000432564.1_Missense_Mutation_p.T263A			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	263					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AAGCTGAGGGTTATGTGCAGG	0.522																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(787-789)Acc>Gcc		hydroxycarboxylic acid receptor 1							90.0	89.0	89.0					12																	123214100		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214100T>C	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.787A>G	12.37:g.123214100T>C	ENSP00000409980:p.Thr263Ala					HCAR1_ENST00000436083.2_Missense_Mutation_p.T263A|HCAR1_ENST00000356987.2_Missense_Mutation_p.T263A	p.T263A	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	1029	-			263					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.787A>G	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716607	0.48622	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.72394	-0.65;-0.65;-0.65	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.073434	0.52532	D	0.000071	T	0.75064	0.3799	L	0.60012	1.86	0.41277	D	0.986889	P	0.49696	0.927	P	0.54706	0.759	T	0.76721	-0.2855	10	0.51188	T	0.08	-7.7541	9.3554	0.38164	0.1594:0.0:0.0:0.8406	.	263	Q9BXC0	HCAR1_HUMAN	A	263	ENSP00000349478:T263A;ENSP00000389255:T263A;ENSP00000409980:T263A	ENSP00000349478:T263A	T	-	1	0	HCAR1	121780053	0.976000	0.34144	0.959000	0.39883	0.361000	0.29550	1.257000	0.32932	2.199000	0.70637	0.533000	0.62120	ACC		0.522	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			36	41	0	0	0	1	0	36	41				
NKTR	4820	broad.mit.edu	37	3	42674295	42674295	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42674295A>G	ENST00000232978.8	+	9	941	c.753A>G	c.(751-753)aaA>aaG	p.K251K	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	251					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGAATAAACATGCAATGA	0.383																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(751-753)aaA>aaG		natural killer-tumor recognition sequence							88.0	92.0	90.0					3																	42674295		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42674295A>G		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.753A>G	3.37:g.42674295A>G						RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.K251K	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	9	941	+			251						Silent	SNP	ENST00000232978.8	37	c.753A>G	CCDS2702.1																																																																																				0.383	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		6	26	0	0	0	1	0	6	26				
HIBCH	26275	broad.mit.edu	37	2	191116931	191116931	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191116931A>G	ENST00000359678.5	-	8	914	c.620T>C	c.(619-621)gTg>gCg	p.V207A	HIBCH_ENST00000392332.3_Missense_Mutation_p.V207A|HIBCH_ENST00000410045.1_5'Flank	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	207					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TGCTCTGTACACATCTCTTCC	0.388																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(619-621)gTg>gCg		3-hydroxyisobutyryl-CoA hydrolase							105.0	94.0	97.0					2																	191116931		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191116931A>G	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.620T>C	2.37:g.191116931A>G	ENSP00000352706:p.Val207Ala					HIBCH_ENST00000359678.5_Missense_Mutation_p.V207A	p.V207A			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		8	759	-			207					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.620T>C	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575068	0.86542	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.51817	0.69;0.69;0.99	5.37	5.37	0.77165	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	L	0.41573	1.285	0.80722	D	1	D;P	0.57899	0.981;0.93	D;P	0.63877	0.919;0.752	T	0.50233	-0.8852	10	0.23302	T	0.38	4.9826	14.5552	0.68097	1.0:0.0:0.0:0.0	.	207;207	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	A	207;207;261	ENSP00000376144:V207A;ENSP00000352706:V207A;ENSP00000387247:V261A	ENSP00000352706:V207A	V	-	2	0	HIBCH	190825176	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.962000	0.93254	2.041000	0.60428	0.460000	0.39030	GTG		0.388	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			21	55	0	0	0	1	0	21	55				
PRRC2B	84726	broad.mit.edu	37	9	134351859	134351859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134351859G>T	ENST00000357304.4	+	15	4398	c.4343G>T	c.(4342-4344)gGt>gTt	p.G1448V	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1448							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTAGGCCAGGTGGTGGTGAC	0.562											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(4342-4344)gGt>gTt		proline-rich coiled-coil 2B							24.0	26.0	26.0					9																	134351859		1972	4155	6127	SO:0001583	missense	84726						protein binding	g.chr9:134351859G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4343G>T	9.37:g.134351859G>T	ENSP00000349856:p.Gly1448Val		OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	p.G1448V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	4398	+			1448					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.4343G>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.71|16.71	3.198005|3.198005	0.58126|0.58126	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000357304;ENST00000418650|ENST00000451855	T|.	0.02216|.	4.39|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|T	0.73125|0.73125	0.3547|0.3547	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;P;P|.	0.53462|.	0.96;0.773;0.664|.	P;B;B|.	0.45829|.	0.494;0.414;0.157|.	T|T	0.69091|0.69091	-0.5237|-0.5237	9|5	0.62326|.	D|.	0.03|.	.|.	18.919|18.919	0.92518|0.92518	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	744;181;1448|.	Q5H9R5;Q5JSZ8;Q5JSZ5|.	.;.;PRC2B_HUMAN|.	V|S	1448;744|181	ENSP00000349856:G1448V|.	ENSP00000349856:G1448V|.	G|R	+|+	2|3	0|2	PRRC2B|PRRC2B	133341680|133341680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.867000|4.867000	0.63013|0.63013	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	15	1	0	0.00909568	1	0.00947522	4	15				
SLC22A1	6580	broad.mit.edu	37	6	160543249	160543249	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160543249C>T	ENST00000366963.4	+	1	429	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SLC22A1_ENST00000457470.2_Silent_p.D94D|SLC22A1_ENST00000324965.4_Silent_p.D94D	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	94					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	ATGAAGTGGACTGGAACCAGA	0.667																																						ENST00000366963.4																		SLC22A1/CUTA(2)	0				breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21						c.(280-282)gaC>gaT		solute carrier family 22 (organic cation transporter), member 1							43.0	50.0	48.0					6																	160543249		2203	4299	6502	SO:0001819	synonymous_variant	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160543249C>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.282C>T	6.37:g.160543249C>T						SLC22A1_ENST00000457470.2_Silent_p.D94D|SLC22A1_ENST00000324965.4_Silent_p.D94D	p.D94D	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	1	429	+		Breast(66;0.000776)|Ovarian(120;0.00556)	94					A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Silent	SNP	ENST00000366963.4	37	c.282C>T	CCDS5274.1																																																																																				0.667	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			28	37	0	0	0	1	0	28	37				
RAD23A	5886	broad.mit.edu	37	19	13059141	13059141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13059141G>A	ENST00000586534.1	+	3	446	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.A129T|RAD23A_ENST00000316856.3_Missense_Mutation_p.A129T|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	129					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGAGGAATCCGCCCCCACGAC	0.642								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(385-387)Gcc>Acc	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							41.0	48.0	46.0					19																	13059141		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059141G>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.385G>A	19.37:g.13059141G>A	ENSP00000467024:p.Ala129Thr					RAD23A_ENST00000592268.1_Missense_Mutation_p.A129T|RAD23A_ENST00000316856.3_Missense_Mutation_p.A129T|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_5'UTR	p.A129T			P54725	RD23A_HUMAN			3	446	+			129					K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.385G>A	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	1.302	-0.604624	0.03717	.	.	ENSG00000179262	ENST00000316856	T	0.19806	2.12	4.68	1.29	0.21616	.	0.810877	0.11141	N	0.595293	T	0.10252	0.0251	N	0.12182	0.205	0.09310	N	0.99999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36578	-0.9742	10	0.22706	T	0.39	-39.761	6.4209	0.21742	0.3149:0.0:0.6851:0.0	.	129;146;129	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	T	129	ENSP00000321365:A129T	ENSP00000321365:A129T	A	+	1	0	RAD23A	12920141	0.001000	0.12720	0.127000	0.21898	0.097000	0.18754	1.069000	0.30641	0.398000	0.25338	0.650000	0.86243	GCC		0.642	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		11	25	0	0	0	1	0	11	25				
SCN3A	6328	broad.mit.edu	37	2	165986519	165986519	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986519A>G	ENST00000360093.3	-	17	3344	c.2853T>C	c.(2851-2853)tgT>tgC	p.C951C	SCN3A_ENST00000283254.7_Silent_p.C951C|SCN3A_ENST00000409101.3_Silent_p.C902C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	951					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGACCTCCATACAGTCCCACA	0.473																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2851-2853)tgT>tgC		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						186.0	177.0	180.0					2																	165986519		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986519A>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2853T>C	2.37:g.165986519A>G						SCN3A_ENST00000409101.3_Silent_p.C902C|SCN3A_ENST00000283254.7_Silent_p.C951C	p.C951C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3344	-			951					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.2853T>C																																																																																					0.473	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		54	87	0	0	0	1	0	54	87				
MYO1E	4643	broad.mit.edu	37	15	59487690	59487690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59487690G>A	ENST00000288235.4	-	17	2174	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	592	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCTTCTTGGTTTCGTTTGG	0.522																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1774-1776)aCc>aTc		myosin IE							196.0	184.0	188.0					15																	59487690		2191	4291	6482	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59487690G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1775C>T	15.37:g.59487690G>A	ENSP00000288235:p.Thr592Ile						p.T592I	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	17	2174	-			592			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1775C>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302550	0.95601	.	.	ENSG00000157483	ENST00000288235	D	0.87256	-2.23	5.46	5.46	0.80206	Myosin head, motor domain (2);	0.046975	0.85682	D	0.000000	D	0.93044	0.7786	M	0.74647	2.275	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.92935	0.6367	10	0.59425	D	0.04	.	18.2528	0.90009	0.0:0.0:1.0:0.0	.	592	Q12965	MYO1E_HUMAN	I	592	ENSP00000288235:T592I	ENSP00000288235:T592I	T	-	2	0	MYO1E	57274982	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.192000	0.94947	2.840000	0.97914	0.655000	0.94253	ACC		0.522	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		44	64	0	0	0	1	0	44	64				
FAM83B	222584	broad.mit.edu	37	6	54806043	54806043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54806043G>T	ENST00000306858.7	+	5	2390	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	758										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTTCAAAGAAGGAAGTTA	0.378																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2272-2274)aaG>aaT		family with sequence similarity 83, member B							59.0	62.0	61.0					6																	54806043		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806043G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2274G>T	6.37:g.54806043G>T	ENSP00000304078:p.Lys758Asn						p.K758N	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2390	+	Lung NSC(77;0.0178)|Renal(3;0.122)		758					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2274G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386978	0.42308	.	.	ENSG00000168143	ENST00000306858	T	0.09723	2.95	5.63	3.84	0.44239	.	0.000000	0.64402	D	0.000001	T	0.05044	0.0135	M	0.69823	2.125	0.40941	D	0.984469	B	0.28760	0.221	B	0.23716	0.048	T	0.09271	-1.0682	10	0.52906	T	0.07	-21.4319	5.8006	0.18412	0.2277:0.1399:0.6323:0.0	.	758	Q5T0W9	FA83B_HUMAN	N	758	ENSP00000304078:K758N	ENSP00000304078:K758N	K	+	3	2	FAM83B	54914002	1.000000	0.71417	0.945000	0.38365	0.866000	0.49608	1.827000	0.39102	0.724000	0.32296	0.655000	0.94253	AAG		0.378	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		27	58	1	0	6.32553e-13	1	7.99037e-13	27	58				
PTCH1	5727	broad.mit.edu	37	9	98212155	98212155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98212155C>T	ENST00000331920.6	-	21	3816	c.3517G>A	c.(3517-3519)Gtg>Atg	p.V1173M	PTCH1_ENST00000430669.2_Missense_Mutation_p.V1107M|PTCH1_ENST00000429896.2_Missense_Mutation_p.V1022M|PTCH1_ENST00000418258.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1172M|PTCH1_ENST00000437951.1_Missense_Mutation_p.V1107M|PTCH1_ENST00000421141.1_Missense_Mutation_p.V1022M	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1173					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.L1170_P1180>WT(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GACAAAAGCACGGGAAGCAAA	0.542																																						ENST00000430669.2																			1	Complex - deletion inframe(1)	p.L1170_P1180>WT(1)	skin(1)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3319-3321)Gtg>Atg		patched 1							126.0	108.0	114.0					9																	98212155		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98212155C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3517G>A	9.37:g.98212155C>T	ENSP00000332353:p.Val1173Met					PTCH1_ENST00000331920.6_Missense_Mutation_p.V1173M|PTCH1_ENST00000421141.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1172M|PTCH1_ENST00000429896.2_Missense_Mutation_p.V1022M|PTCH1_ENST00000418258.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000437951.1_Missense_Mutation_p.V1107M	p.V1107M			Q13635	PTC1_HUMAN			21	3904	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1173					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3319G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787540	0.70337	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.989;0.989;0.995	D	0.95410	0.8497	10	0.87932	D	0	-33.5808	13.7029	0.62620	0.0:0.9261:0.0:0.0739	.	1107;1172;1173	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	M	1173;1107;1022;1022;1107;1022;1172	ENSP00000332353:V1173M;ENSP00000389744:V1107M;ENSP00000399981:V1022M;ENSP00000396135:V1022M;ENSP00000410287:V1107M;ENSP00000414823:V1022M;ENSP00000364423:V1172M	ENSP00000332353:V1173M	V	-	1	0	PTCH1	97251976	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.923000	0.63412	2.606000	0.88127	0.561000	0.74099	GTG		0.542	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		5	15	0	0	0	1	0	5	15				
DPH7	92715	broad.mit.edu	37	9	140459020	140459020	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140459020A>G	ENST00000277540.2	-	8	972	c.815T>C	c.(814-816)aTg>aCg	p.M272T	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	272					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CGGCTGCTTCATGTTTCGTGT	0.557																																						ENST00000277540.2																			0											c.(814-816)aTg>aCg		diphthamide biosynthesis 7							176.0	133.0	147.0					9																	140459020		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140459020A>G	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.815T>C	9.37:g.140459020A>G	ENSP00000277540:p.Met272Thr					DPH7_ENST00000479650.1_5'UTR	p.M272T	NM_138778.2	NP_620133.1					8	972	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.815T>C	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721640	0.68959	.	.	ENSG00000148399	ENST00000277540	T	0.01304	5.03	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.131174	0.64402	D	0.000002	T	0.04137	0.0115	M	0.72894	2.215	0.43107	D	0.994802	D	0.62365	0.991	P	0.48368	0.575	T	0.45071	-0.9286	10	0.51188	T	0.08	.	14.7036	0.69171	1.0:0.0:0.0:0.0	.	272	Q9BTV6	WDR85_HUMAN	T	272	ENSP00000277540:M272T	ENSP00000277540:M272T	M	-	2	0	WDR85	139578841	1.000000	0.71417	0.171000	0.22900	0.766000	0.43426	7.028000	0.76470	2.070000	0.61991	0.402000	0.26972	ATG		0.557	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		7	63	0	0	0	1	0	7	63				
MLST8	64223	broad.mit.edu	37	16	2258236	2258236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258236C>T	ENST00000569417.1	+	7	953	c.599C>T	c.(598-600)aCg>aTg	p.T200M	MLST8_ENST00000382450.4_Missense_Mutation_p.T199M|MLST8_ENST00000565250.1_Missense_Mutation_p.T200M|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000397124.1_Missense_Mutation_p.T200M|MLST8_ENST00000301724.10_Missense_Mutation_p.T200M|MLST8_ENST00000564088.1_Missense_Mutation_p.T200M|MLST8_ENST00000301725.7_Intron	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	200					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						TGGAATCTGACGGGGGGCATT	0.632																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(598-600)aCg>aTg		MTOR associated protein, LST8 homolog (S. cerevisiae)							108.0	119.0	115.0					16																	2258236		2064	4196	6260	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258236C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.599C>T	16.37:g.2258236C>T	ENSP00000456405:p.Thr200Met					MLST8_ENST00000565250.1_Missense_Mutation_p.T200M|MLST8_ENST00000397124.1_Missense_Mutation_p.T200M|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000564088.1_Missense_Mutation_p.T200M|MLST8_ENST00000382450.4_Missense_Mutation_p.T199M|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000301724.10_Missense_Mutation_p.T200M	p.T200M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			7	953	+			200					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.599C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016156	0.54468	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124	T;T	0.41065	1.54;1.01	4.4	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.051139	0.85682	D	0.000000	T	0.33644	0.0870	L	0.29908	0.895	0.80722	D	1	P;B	0.38992	0.653;0.023	B;B	0.37480	0.251;0.008	T	0.26916	-1.0089	10	0.51188	T	0.08	-20.1318	15.554	0.76177	0.0:1.0:0.0:0.0	.	134;200	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	M	200	ENSP00000301724:T200M;ENSP00000380313:T200M	ENSP00000301724:T200M	T	+	2	0	MLST8	2198237	1.000000	0.71417	0.970000	0.41538	0.964000	0.63967	7.773000	0.85462	2.002000	0.58637	0.313000	0.20887	ACG		0.632	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		9	104	0	0	0	1	0	9	104				
MAPKBP1	23005	broad.mit.edu	37	15	42113212	42113212	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42113212A>G	ENST00000456763.2	+	24	2878	c.2682A>G	c.(2680-2682)ccA>ccG	p.P894P	MAPKBP1_ENST00000260357.7_Silent_p.P727P|MAPKBP1_ENST00000514566.1_Silent_p.P888P|MAPKBP1_ENST00000457542.2_Silent_p.P888P|MAPKBP1_ENST00000221214.6_Silent_p.P771P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	894										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCATCATCCCATCTGGTCCCA	0.592																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2662-2664)ccA>ccG		mitogen-activated protein kinase binding protein 1							65.0	61.0	62.0					15																	42113212		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42113212A>G	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2682A>G	15.37:g.42113212A>G						MAPKBP1_ENST00000221214.6_Silent_p.P771P|MAPKBP1_ENST00000260357.7_Silent_p.P727P|MAPKBP1_ENST00000456763.2_Silent_p.P894P|MAPKBP1_ENST00000514566.1_Silent_p.P888P	p.P888P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	23	2950	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	894					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.2664A>G	CCDS45239.1																																																																																				0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		4	35	0	0	0	1	0	4	35				
UBE2J2	118424	broad.mit.edu	37	1	1203186	1203186	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1203186G>T	ENST00000349431.6	-	2	351				UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400930.4_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000347370.2_De_novo_Start_InFrame	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2						protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GGGGCCGGCAGAGGCCTGCGT	0.682																																						ENST00000347370.2																			0				cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13								ubiquitin-conjugating enzyme E2, J2																																				SO:0001627	intron_variant	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1203186G>T	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.131+55C>A	1.37:g.1203186G>T						UBE2J2_ENST00000349431.6_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000400930.4_Intron		NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	0	375	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A8MYC7|Q504T9|Q96N26|Q96T84	Translation_Start_Site	SNP	ENST00000349431.6	37		CCDS14.1																																																																																				0.682	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		6	40	1	0	0.00198382	1	0.00210581	6	40				
FLRT2	23768	broad.mit.edu	37	14	86088857	86088857	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088857C>T	ENST00000330753.4	+	2	1766	c.999C>T	c.(997-999)aaC>aaT	p.N333N	FLRT2_ENST00000554746.1_Silent_p.N333N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	333	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATCTCTCAACGTGCGGGGTT	0.507																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(997-999)aaC>aaT		fibronectin leucine rich transmembrane protein 2							137.0	146.0	143.0					14																	86088857		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088857C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.999C>T	14.37:g.86088857C>T						FLRT2_ENST00000554746.1_Silent_p.N333N	p.N333N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1766	+			333			LRRCT.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.999C>T	CCDS9877.1																																																																																				0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			57	117	0	0	0	1	0	57	117				
CALR	811	broad.mit.edu	37	19	13051399	13051399	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13051399G>A	ENST00000316448.5	+	6	820	c.747G>A	c.(745-747)aaG>aaA	p.K249K		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	249	4 X approximate repeats.|Interaction with PPIB. {ECO:0000250}.|P-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	ATGCTAAGAAGCCCGAGGACT	0.572																																						ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(745-747)aaG>aaA		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						63.0	67.0	65.0					19																	13051399		2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13051399G>A	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.747G>A	19.37:g.13051399G>A							p.K249K	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			6	820	+			249			4 X approximate repeats.|P-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.747G>A	CCDS12288.1																																																																																				0.572	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		9	34	0	0	0	1	0	9	34				
FLNA	2316	broad.mit.edu	37	X	153587380	153587380	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153587380T>C	ENST00000369850.3	-	26	4682	c.4446A>G	c.(4444-4446)ccA>ccG	p.P1482P	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Silent_p.P1482P|FLNA_ENST00000344736.4_Silent_p.P1482P|FLNA_ENST00000360319.4_Silent_p.P1482P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1482					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACCTGCAATGGGGCCACAC	0.612																																						ENST00000422373.1																			0				breast(6)	6						c.(4444-4446)ccA>ccG		filamin A, alpha							114.0	119.0	118.0					X																	153587380		2076	4190	6266	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587380T>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4446A>G	X.37:g.153587380T>C						FLNA_ENST00000344736.4_Silent_p.P1482P|FLNA_ENST00000360319.4_Silent_p.P1482P|FLNA_ENST00000369850.3_Silent_p.P1482P	p.P1482P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			26	4694	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1482					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4446A>G	CCDS48194.1																																																																																				0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	145	0	0	0	1	0	5	145				
NAPEPLD	222236	broad.mit.edu	37	7	102760494	102760494	+	Silent	SNP	C	C	T	rs144069186		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102760494C>T	ENST00000417955.1	-	3	625	c.471G>A	c.(469-471)tcG>tcA	p.S157S	NAPEPLD_ENST00000455523.2_Silent_p.S230S|NAPEPLD_ENST00000465647.1_Silent_p.S157S|NAPEPLD_ENST00000427257.1_Silent_p.S157S|NAPEPLD_ENST00000341533.4_Silent_p.S157S			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	157					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATGTACTGCGATGGTGAAG	0.493																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(469-471)tcG>tcA		N-acyl phosphatidylethanolamine phospholipase D		C	,	0,4406		0,0,2203	176.0	142.0	153.0		471,471	-5.3	0.0	7	dbSNP_134	153	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	NAPEPLD	NM_001122838.1,NM_198990.4	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	157/394,157/394	102760494	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760494C>T	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.471G>A	7.37:g.102760494C>T						NAPEPLD_ENST00000341533.4_Silent_p.S157S|NAPEPLD_ENST00000455523.2_Silent_p.S230S|NAPEPLD_ENST00000427257.1_Silent_p.S157S|NAPEPLD_ENST00000465647.1_Silent_p.S157S	p.S157S			Q6IQ20	NAPEP_HUMAN			3	625	-			157					Q5CZ87|Q769K1	Silent	SNP	ENST00000417955.1	37	c.471G>A	CCDS5729.1																																																																																				0.493	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		44	122	0	0	0	1	0	44	122				
CACNA2D2	9254	broad.mit.edu	37	3	50417156	50417156	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50417156C>T	ENST00000479441.1	-	10	992	c.993G>A	c.(991-993)tcG>tcA	p.S331S	CACNA2D2_ENST00000395083.1_Splice_Site_p.S331S|CACNA2D2_ENST00000429770.1_Splice_Site_p.S331S|CACNA2D2_ENST00000435965.1_Splice_Site_p.S331S|CACNA2D2_ENST00000266039.3_Splice_Site_p.S331S|CACNA2D2_ENST00000424201.2_Splice_Site_p.S331S|CACNA2D2_ENST00000360963.3_Splice_Site_p.S262S|CACNA2D2_ENST00000423994.2_Splice_Site_p.S331S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	331	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGGCACTCACCGAGGCCACAT	0.592																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.e10+1		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						95.0	81.0	86.0					3																	50417156		2203	4300	6503	SO:0001630	splice_region_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50417156C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.993+1G>A	3.37:g.50417156C>T						CACNA2D2_ENST00000424201.2_Splice_Site_p.S331_splice|CACNA2D2_ENST00000479441.1_Splice_Site_p.S331_splice|CACNA2D2_ENST00000429770.1_Splice_Site_p.S331_splice|CACNA2D2_ENST00000360963.3_Splice_Site_p.S262_splice|CACNA2D2_ENST00000266039.3_Splice_Site_p.S331_splice|CACNA2D2_ENST00000423994.2_Splice_Site_p.S331_splice|CACNA2D2_ENST00000395083.1_Splice_Site_p.S331_splice	p.S331_splice			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	10	1166	-			331			VWFA.		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Splice_Site	SNP	ENST00000479441.1	37	c.993_splice	CCDS54588.1																																																																																				0.592	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	Silent	11	22	0	0	0	1	0	11	22				
CLCNKA	1187	broad.mit.edu	37	1	16359021	16359021	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16359021G>T	ENST00000331433.4	+	18	1948	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	CLCNKA_ENST00000420078.1_Splice_Site_p.Q642H|CLCNKA_ENST00000375692.1_Splice_Site_p.Q642H|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Splice_Site_p.Q600H			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	643	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTTGCACCAGGTAACAAGTA	0.642											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.e19+1		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						90.0	89.0	89.0					1																	16359021		2203	4300	6503	SO:0001630	splice_region_variant	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16359021G>T		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1929+1G>T	1.37:g.16359021G>T			OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	709	CLCNKA_ENST00000420078.1_Splice_Site_p.Q642_splice|CLCNKA_ENST00000439316.2_Splice_Site_p.Q600_splice|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Splice_Site_p.Q643_splice	p.Q642_splice			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	19	2054	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	643			CBS 2.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Splice_Site	SNP	ENST00000331433.4	37	c.1926_splice	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277730	0.40294	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	3.02	3.02	0.34903	Cystathionine beta-synthase, core (2);	0.139988	0.49305	D	0.000157	D	0.93808	0.8020	M	0.64997	1.995	0.53688	D	0.999973	P;P;P	0.45957	0.648;0.869;0.648	P;P;P	0.53035	0.566;0.716;0.566	D	0.93950	0.7231	10	0.87932	D	0	.	11.1707	0.48569	0.0:0.0:1.0:0.0	.	600;642;643	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	H	642;642;600;643	ENSP00000364844:Q642H;ENSP00000410353:Q642H;ENSP00000414445:Q600H;ENSP00000332771:Q643H	ENSP00000332771:Q643H	Q	+	3	2	CLCNKA	16231608	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	3.975000	0.56859	1.674000	0.50907	0.313000	0.20887	CAG		0.642	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1		Missense_Mutation	16	84	1	0	8.60227e-14	1	1.09385e-13	16	84				
CATSPER1	117144	broad.mit.edu	37	11	65793574	65793574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65793574G>A	ENST00000312106.5	-	1	414	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	93	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCCTGTGGGGCCATGGGCT	0.617																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(277-279)Ccc>Tcc		cation channel, sperm associated 1							150.0	132.0	138.0					11																	65793574		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793574G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.277C>T	11.37:g.65793574G>A	ENSP00000309052:p.Pro93Ser						p.P93S	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	414	-			93			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.277C>T	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723269	0.30503	.	.	ENSG00000175294	ENST00000312106	D	0.96491	-4.03	3.6	-2.79	0.05841	.	2.161290	0.02516	N	0.092020	D	0.93789	0.8014	L	0.50333	1.59	0.09310	N	1	P	0.37708	0.606	B	0.34385	0.181	D	0.86875	0.2038	10	0.54805	T	0.06	-0.5313	10.572	0.45206	0.2823:0.0:0.7177:0.0	.	93	Q8NEC5	CTSR1_HUMAN	S	93	ENSP00000309052:P93S	ENSP00000309052:P93S	P	-	1	0	CATSPER1	65550150	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.384000	0.07389	-0.570000	0.06022	0.561000	0.74099	CCC		0.617	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		11	132	0	0	0	1	0	11	132				
MYT1L	23040	broad.mit.edu	37	2	1982978	1982978	+	Silent	SNP	G	G	A	rs546427673		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1982978G>A	ENST00000399161.2	-	8	858	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MYT1L_ENST00000428368.2_Silent_p.D37D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCACTGCCGTCACAGCCAG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19815	0.001		0.0	False		,,,				2504	0.0					ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(109-111)gaC>gaT		myelin transcription factor 1-like							37.0	40.0	39.0					2																	1982978		2196	4298	6494	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1982978G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.111C>T	2.37:g.1982978G>A						MYT1L_ENST00000428368.2_Silent_p.D37D	p.D37D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	8	858	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	37					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.111C>T																																																																																					0.517	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		5	5	0	0	0	1	0	5	5				
TMEM176B	28959	broad.mit.edu	37	7	150490258	150490258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490258G>A	ENST00000447204.2	-	5	890	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TMEM176B_ENST00000326442.5_Missense_Mutation_p.T173I|TMEM176B_ENST00000450753.2_Missense_Mutation_p.T136I|TMEM176B_ENST00000492607.1_Missense_Mutation_p.T173I|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T173I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T173I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	173					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACCCAGTGGTAGGGAAGAC	0.507																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(517-519)aCc>aTc		transmembrane protein 176B							158.0	131.0	140.0					7																	150490258		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490258G>A	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.518C>T	7.37:g.150490258G>A	ENSP00000410269:p.Thr173Ile					TMEM176B_ENST00000492607.1_Missense_Mutation_p.T173I|TMEM176B_ENST00000450753.2_Missense_Mutation_p.T136I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T173I|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T173I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T173I	p.T173I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	890	-			173					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.518C>T	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344684	0.41498	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.10005	3.09;3.09;3.09;3.09;3.09;2.92	3.7	1.79	0.24919	.	2.195120	0.02222	N	0.064098	T	0.26340	0.0643	M	0.63428	1.95	0.09310	N	1	D;D	0.64830	0.994;0.984	D;P	0.63488	0.915;0.879	T	0.08391	-1.0724	10	0.25106	T	0.35	-2.0797	5.3861	0.16218	0.1127:0.0:0.6906:0.1967	.	136;173	E9PAV4;Q3YBM2	.;T176B_HUMAN	I	173;173;173;173;173;136;173	ENSP00000419258:T173I;ENSP00000318409:T173I;ENSP00000410269:T173I;ENSP00000413531:T173I;ENSP00000397810:T173I;ENSP00000404831:T136I	ENSP00000318409:T173I	T	-	2	0	TMEM176B	150121191	0.030000	0.19436	0.004000	0.12327	0.024000	0.10985	0.501000	0.22578	0.305000	0.22832	0.448000	0.29417	ACC		0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		49	45	0	0	0	1	0	49	45				
PPP1R26	9858	broad.mit.edu	37	9	138378993	138378993	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138378993G>A	ENST00000356818.2	+	4	3186	c.2637G>A	c.(2635-2637)agG>agA	p.R879R	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.R879R|PPP1R26_ENST00000605660.1_Silent_p.R879R|PPP1R26_ENST00000401470.3_Silent_p.R879R|PPP1R26_ENST00000604351.1_Silent_p.R879R	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	879					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGCTGTGCAGGAAGGAGCCTG	0.672																																						ENST00000356818.2																			0											c.(2635-2637)agG>agA		protein phosphatase 1, regulatory subunit 26							28.0	36.0	33.0					9																	138378993		2166	4268	6434	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138378993G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2637G>A	9.37:g.138378993G>A						PPP1R26_ENST00000604351.1_Silent_p.R879R|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.R879R|PPP1R26_ENST00000605660.1_Silent_p.R879R|PPP1R26_ENST00000401470.3_Silent_p.R879R	p.R879R	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3186	+			879					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2637G>A	CCDS6988.1																																																																																				0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		27	41	0	0	0	1	0	27	41				
CLSPN	63967	broad.mit.edu	37	1	36214109	36214109	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36214109T>C	ENST00000318121.3	-	13	2426	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	CLSPN_ENST00000373220.3_Missense_Mutation_p.N726S|CLSPN_ENST00000251195.5_Missense_Mutation_p.N790S|CLSPN_ENST00000520551.1_Missense_Mutation_p.N737S	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	790					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTTTGTCTGTTGCAAGGCTG	0.488																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2368-2370)aAc>aGc		claspin							124.0	122.0	123.0					1																	36214109		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36214109T>C	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2369A>G	1.37:g.36214109T>C	ENSP00000312995:p.Asn790Ser					CLSPN_ENST00000520551.1_Missense_Mutation_p.N737S|CLSPN_ENST00000373220.3_Missense_Mutation_p.N726S|CLSPN_ENST00000318121.3_Missense_Mutation_p.N790S	p.N790S			Q9HAW4	CLSPN_HUMAN			13	2465	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	790					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.2369A>G	CCDS396.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589455	0.66105	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.48522	0.81;0.82;1.02;0.93	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.75264	2.295	0.48901	D	0.999723	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.996	T	0.72141	-0.4380	10	0.59425	D	0.04	-16.9031	15.9822	0.80121	0.0:0.0:0.0:1.0	.	726;790	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	S	790;790;726;737	ENSP00000251195:N790S;ENSP00000312995:N790S;ENSP00000362317:N726S;ENSP00000428848:N737S	ENSP00000251195:N790S	N	-	2	0	CLSPN	35986696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.189000	0.69895	0.460000	0.39030	AAC		0.488	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		11	80	0	0	0	1	0	11	80				
ATRIP	84126	broad.mit.edu	37	3	48501694	48501694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48501694C>A	ENST00000320211.3	+	8	1354	c.1241C>A	c.(1240-1242)cCt>cAt	p.P414H	ATRIP_ENST00000357105.6_Missense_Mutation_p.P287H|ATRIP_ENST00000346691.4_Missense_Mutation_p.P414H|ATRIP_ENST00000412052.1_Missense_Mutation_p.P321H	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	414					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCCAGCTTCCTGGAGCCGTG	0.592								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(961-963)cCt>cAt	Other conserved DNA damage response genes	ATR interacting protein							108.0	96.0	100.0					3																	48501694		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48501694C>A	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1241C>A	3.37:g.48501694C>A	ENSP00000323099:p.Pro414His					ATRIP_ENST00000357105.6_Missense_Mutation_p.P287H|ATRIP_ENST00000320211.3_Missense_Mutation_p.P414H|ATRIP_ENST00000346691.4_Missense_Mutation_p.P414H	p.P321H	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1424	+			414					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.962C>A	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435918	0.83885	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.48522	1.39;1.37;0.81;1.39	5.85	5.85	0.93711	.	0.216928	0.48286	D	0.000194	T	0.67887	0.2941	M	0.66939	2.045	0.47737	D	0.999507	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65372	-0.6184	9	.	.	.	-11.3347	17.6515	0.88165	0.0:1.0:0.0:0.0	.	414;414	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	H	414;414;287;321	ENSP00000323099:P414H;ENSP00000302338:P414H;ENSP00000349620:P287H;ENSP00000400930:P321H	.	P	+	2	0	ATRIP	48476698	0.994000	0.37717	0.998000	0.56505	0.975000	0.68041	1.748000	0.38308	2.767000	0.95098	0.655000	0.94253	CCT		0.592	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		9	112	1	0	1.12685e-05	1	1.27857e-05	9	112				
TGFB3	7043	broad.mit.edu	37	14	76437556	76437556	+	Missense_Mutation	SNP	C	C	T	rs201063101		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76437556C>T	ENST00000238682.3	-	3	856	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	TGFB3_ENST00000556285.1_Missense_Mutation_p.G187S|RP11-270M14.5_ENST00000553732.1_lincRNA	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	187					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTCTTGCCACCGATATAGCGC	0.562																																						ENST00000238682.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(559-561)Ggt>Agt		transforming growth factor, beta 3							109.0	85.0	93.0					14																	76437556		2203	4300	6503	SO:0001583	missense	7043				cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr14:76437556C>T		CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.559G>A	14.37:g.76437556C>T	ENSP00000238682:p.Gly187Ser					TGFB3_ENST00000556285.1_Missense_Mutation_p.G187S|RP11-270M14.5_ENST00000553732.1_lincRNA	p.G187S	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0169)	3	856	-			187					Q8WV88	Missense_Mutation	SNP	ENST00000238682.3	37	c.559G>A	CCDS9846.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092051	0.36952	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.63580	-0.05;-0.05	5.55	2.37	0.29283	Transforming growth factor-beta, N-terminal (1);	0.208992	0.51477	N	0.000096	T	0.38612	0.1047	N	0.20401	0.57	0.30641	N	0.756404	B	0.15473	0.013	B	0.18561	0.022	T	0.26224	-1.0109	10	0.10111	T	0.7	-19.0677	6.7238	0.23345	0.0:0.5746:0.0:0.4254	.	187	P10600	TGFB3_HUMAN	S	187	ENSP00000238682:G187S;ENSP00000451110:G187S	ENSP00000238682:G187S	G	-	1	0	TGFB3	75507309	0.904000	0.30761	0.010000	0.14722	0.958000	0.62258	2.514000	0.45503	0.736000	0.32559	-0.221000	0.12465	GGT		0.562	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413685.1	NM_003239		21	33	0	0	0	1	0	21	33				
TNFRSF6B	8771	broad.mit.edu	37	20	62329814	62329814	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62329814G>A	ENST00000369996.1	+	3	901	c.801G>A	c.(799-801)gcG>gcA	p.A267A	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	267					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			TCCTGGGGGCGCAGGACGGGG	0.756																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(799-801)gcG>gcA		tumor necrosis factor receptor superfamily, member 6b, decoy							4.0	6.0	5.0					20																	62329814		1608	3332	4940	SO:0001819	synonymous_variant	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62329814G>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.801G>A	20.37:g.62329814G>A						RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	p.A267A	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		3	901	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		267						Silent	SNP	ENST00000369996.1	37	c.801G>A	CCDS13532.1																																																																																				0.756	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			4	6	0	0	0	1	0	4	6				
PROX2	283571	broad.mit.edu	37	14	75329615	75329615	+	Missense_Mutation	SNP	C	C	T	rs370937410		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329615C>T	ENST00000445876.1	-	1	922	c.923G>A	c.(922-924)cGt>cAt	p.R308H	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Missense_Mutation_p.R308H			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	308					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGAATCTAGACGCTTGGCCAG	0.552																																						ENST00000556489.2																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(922-924)cGt>cAt		prospero homeobox 2							87.0	91.0	89.0					14																	75329615		1874	4115	5989	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329615C>T		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.923G>A	14.37:g.75329615C>T	ENSP00000405932:p.Arg308His					PROX2_ENST00000445876.1_Missense_Mutation_p.R308H|PROX2_ENST00000556084.2_Intron	p.R308H	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	922	-			308					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.923G>A	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026863	0.19512	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.46063	0.88;0.88	5.44	3.51	0.40186	.	0.574106	0.16931	N	0.193661	T	0.28134	0.0694	N	0.14661	0.345	0.24018	N	0.996153	B	0.22746	0.074	B	0.09377	0.004	T	0.29212	-1.0019	10	0.66056	D	0.02	-0.3399	14.7668	0.69646	0.0:0.2735:0.7265:0.0	.	308	G3V3G0	.	H	308	ENSP00000451223:R308H;ENSP00000405932:R308H	ENSP00000374315:R308H	R	-	2	0	PROX2	74399368	0.390000	0.25213	0.849000	0.33467	0.788000	0.44548	2.641000	0.46587	1.442000	0.47568	-0.317000	0.08691	CGT		0.552	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				43	58	0	0	0	1	0	43	58				
TMTC2	160335	broad.mit.edu	37	12	83290332	83290332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290332G>A	ENST00000321196.3	+	3	2097	c.1390G>A	c.(1390-1392)Gtt>Att	p.V464I	TMTC2_ENST00000549919.1_Missense_Mutation_p.V458I|TMTC2_ENST00000548305.1_Missense_Mutation_p.V464I	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	464					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TACACTAATTGTTTTTTATGG	0.408																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1372-1374)Gtt>Att		transmembrane and tetratricopeptide repeat containing 2							76.0	71.0	73.0					12																	83290332		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83290332G>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1390G>A	12.37:g.83290332G>A	ENSP00000322300:p.Val464Ile					TMTC2_ENST00000548305.1_Missense_Mutation_p.V464I|TMTC2_ENST00000321196.3_Missense_Mutation_p.V464I	p.V458I			Q8N394	TMTC2_HUMAN			4	3177	+			464					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1372G>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447538	0.26074	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61392	0.81;0.11;0.71	5.86	3.99	0.46301	.	0.115109	0.64402	D	0.000014	T	0.42585	0.1209	L	0.35487	1.065	0.43130	D	0.994862	B;B;B	0.28055	0.199;0.011;0.167	B;B;B	0.31101	0.079;0.061;0.124	T	0.26503	-1.0101	10	0.22706	T	0.39	-14.5102	7.614	0.28148	0.0662:0.1195:0.6907:0.1236	.	464;219;464	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	I	464;464;458;219	ENSP00000322300:V464I;ENSP00000448292:V464I;ENSP00000447609:V458I	ENSP00000322300:V464I	V	+	1	0	TMTC2	81814463	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.315000	0.43752	1.445000	0.47624	0.650000	0.86243	GTT		0.408	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		31	34	0	0	0	1	0	31	34				
TXNDC2	84203	broad.mit.edu	37	18	9887909	9887909	+	Missense_Mutation	SNP	C	C	T	rs142043945		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9887909C>T	ENST00000306084.6	+	2	1632	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.T411M	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	478	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCTCGGCCACGTGGTGTGGG	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1432-1434)aCg>aTg		thioredoxin domain containing 2 (spermatozoa)		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	86.0	65.0	72.0		1433,1232	-3.7	0.0	18	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense	TXNDC2	NM_001098529.1,NM_032243.5	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	478/554,411/487	9887909	1,13005	2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887909C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1433C>T	18.37:g.9887909C>T	ENSP00000304908:p.Thr478Met					TXNDC2_ENST00000357775.4_Missense_Mutation_p.T411M|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR	p.T478M	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1632	+			478			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1433C>T	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	C	5.743	0.321596	0.10845	2.27E-4	0.0	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.15256	2.44;2.44	4.05	-3.72	0.04411	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.855473	0.10224	N	0.700592	T	0.32406	0.0828	H	0.95574	3.69	0.09310	N	1	D	0.57899	0.981	P	0.48030	0.564	T	0.18808	-1.0325	9	.	.	.	-0.0012	5.1679	0.15096	0.0:0.2745:0.277:0.4485	.	478	Q86VQ3	TXND2_HUMAN	M	276;411;478;463	ENSP00000350419:T411M;ENSP00000304908:T478M	.	T	+	2	0	TXNDC2	9877909	0.000000	0.05858	0.001000	0.08648	0.396000	0.30629	-0.619000	0.05572	-0.903000	0.03881	0.650000	0.86243	ACG		0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	19	0	0	0	1	0	5	19				
ZCCHC2	54877	broad.mit.edu	37	18	60242354	60242354	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60242354T>C	ENST00000269499.5	+	13	3458	c.3040T>C	c.(3040-3042)Tct>Cct	p.S1014P	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S693P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1014						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTTGTGGTTCTTGTGGGCG	0.527																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(3040-3042)Tct>Cct		zinc finger, CCHC domain containing 2							87.0	97.0	93.0					18																	60242354		2153	4269	6422	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242354T>C	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3040T>C	18.37:g.60242354T>C	ENSP00000269499:p.Ser1014Pro					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S693P	p.S1014P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	3458	+			1014					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.3040T>C	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076517	0.55753	.	.	ENSG00000141664	ENST00000269499	T	0.33654	1.4	4.76	4.76	0.60689	.	0.237818	0.36482	N	0.002568	T	0.50888	0.1642	L	0.55481	1.735	0.46521	D	0.999088	D	0.71674	0.998	D	0.63381	0.914	T	0.43940	-0.9360	10	0.31617	T	0.26	-17.3463	14.7497	0.69516	0.0:0.0:0.0:1.0	.	1014	Q9C0B9	ZCHC2_HUMAN	P	1014	ENSP00000269499:S1014P	ENSP00000269499:S1014P	S	+	1	0	ZCCHC2	58393334	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	6.809000	0.75211	2.122000	0.65172	0.528000	0.53228	TCT		0.527	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		10	13	0	0	0	1	0	10	13				
AKR7A2	8574	broad.mit.edu	37	1	19635124	19635124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19635124G>A	ENST00000235835.3	-	2	332	c.311C>T	c.(310-312)aCc>aTc	p.T104I		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	104					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCCTTGGTGGCAATTTT	0.478																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(310-312)aCc>aTc		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							83.0	82.0	83.0					1																	19635124		2203	4300	6503	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19635124G>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.311C>T	1.37:g.19635124G>A	ENSP00000235835:p.Thr104Ile						p.T104I	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	332	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	104					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.311C>T	CCDS194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.196575|4.196575	0.79015|0.79015	.|.	.|.	ENSG00000053371|ENSG00000053371	ENST00000489286|ENST00000235835;ENST00000330072	.|T;T	.|0.15139	.|2.45;2.45	3.93|3.93	3.93|3.93	0.45458|0.45458	.|NADP-dependent oxidoreductase domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60077|0.60077	0.2241|0.2241	H|H	0.99238|0.99238	4.48|4.48	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.61697	.|0.99;0.99;0.99	.|D;D;D	.|0.71184	.|0.925;0.953;0.972	T|T	0.79042|0.79042	-0.1965|-0.1965	5|10	.|0.87932	.|D	.|0	.|.	15.0182|15.0182	0.71605|0.71605	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|75;75;104	.|C9JSL3;B4DZX4;O43488	.|.;.;ARK72_HUMAN	S|I	32|104;94	.|ENSP00000235835:T104I;ENSP00000339084:T94I	.|ENSP00000235835:T104I	P|T	-|-	1|2	0|0	AKR7A2|AKR7A2	19507711|19507711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	9.104000|9.104000	0.94239|0.94239	2.178000|2.178000	0.69098|0.69098	0.555000|0.555000	0.69702|0.69702	CCA|ACC		0.478	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		23	31	0	0	0	1	0	23	31				
MAP2	4133	broad.mit.edu	37	2	210560108	210560108	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210560108C>A	ENST00000360351.4	+	7	3720	c.3214C>A	c.(3214-3216)Ctt>Att	p.L1072I	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L1068I|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1072					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGAGCTAAAACTTGAGGCTAC	0.463																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3214-3216)Ctt>Att		microtubule-associated protein 2	Estramustine(DB01196)						114.0	118.0	116.0					2																	210560108		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560108C>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3214C>A	2.37:g.210560108C>A	ENSP00000353508:p.Leu1072Ile					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L1068I	p.L1072I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3720	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1072					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3214C>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	3.475	-0.107196	0.06924	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.20069	2.1;2.1	5.03	-1.37	0.09056	MAP2/Tau projection (1);	0.952008	0.08652	N	0.913920	T	0.10423	0.0255	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.38499	-0.9658	10	0.20046	T	0.44	0.0017	1.7142	0.02898	0.1157:0.3583:0.2272:0.2988	.	1068;1072	P11137-3;P11137	.;MAP2_HUMAN	I	1072;1068	ENSP00000353508:L1072I;ENSP00000392164:L1068I	ENSP00000353508:L1072I	L	+	1	0	MAP2	210268353	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.584000	0.05800	0.034000	0.15491	-0.181000	0.13052	CTT		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		24	42	1	0	3.08376e-08	1	3.68275e-08	24	42				
ICE1	23379	broad.mit.edu	37	5	5462688	5462688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5462688G>A	ENST00000296564.7	+	13	3463	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1081					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAACATGGAGAGACACAGGA	0.473																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(3241-3243)Gag>Aag		KIAA0947							104.0	103.0	104.0					5																	5462688		1935	4147	6082	SO:0001583	missense	23379							g.chr5:5462688G>A																												ENST00000296564.7:c.3241G>A	5.37:g.5462688G>A	ENSP00000296564:p.Glu1081Lys						p.E1081K	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	3463	+			1081					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3241G>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	14.89	2.670090	0.47677	.	.	ENSG00000164151	ENST00000296564	T	0.10192	2.9	4.24	4.24	0.50183	.	0.670390	0.12499	N	0.463539	T	0.19366	0.0465	L	0.27053	0.805	0.22591	N	0.998954	D	0.89917	1.0	D	0.83275	0.996	T	0.20739	-1.0266	10	0.23302	T	0.38	-1.712	12.1334	0.53957	0.0:0.0:1.0:0.0	.	1081	Q9Y2F5	K0947_HUMAN	K	1081	ENSP00000296564:E1081K	ENSP00000296564:E1081K	E	+	1	0	KIAA0947	5515688	0.931000	0.31567	0.074000	0.20217	0.324000	0.28378	1.291000	0.33330	1.906000	0.55180	0.306000	0.20318	GAG		0.473	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			47	80	0	0	0	1	0	47	80				
AATF	26574	broad.mit.edu	37	17	35310341	35310341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35310341C>T	ENST00000225402.5	+	3	690	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	147	Glu-rich.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGCAAAAACACCGGGCTTCAG	0.512																																					NSCLC(49;901 1159 19183 41572 46244)	ENST00000225402.5																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18						c.(439-441)Ccg>Tcg		apoptosis antagonizing transcription factor							107.0	102.0	104.0					17																	35310341		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35310341C>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.439C>T	17.37:g.35310341C>T	ENSP00000225402:p.Pro147Ser						p.P147S	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN			3	690	+		Breast(25;0.00607)	147			Glu-rich.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.439C>T	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	C	0.790	-0.759200	0.03019	.	.	ENSG00000108270	ENST00000225402	T	0.28069	1.63	5.8	-1.23	0.09465	.	0.685951	0.14531	N	0.313870	T	0.11623	0.0283	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30119	-0.9989	10	0.09338	T	0.73	3.4362	3.1837	0.06593	0.1183:0.511:0.1164:0.2544	.	147	Q9NY61	AATF_HUMAN	S	147	ENSP00000225402:P147S	ENSP00000225402:P147S	P	+	1	0	AATF	32384454	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.340000	0.07821	-0.024000	0.13941	0.655000	0.94253	CCG		0.512	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		25	27	0	0	0	1	0	25	27				
IL1B	3553	broad.mit.edu	37	2	113590400	113590400	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113590400G>T	ENST00000263341.2	-	5	515	c.305C>A	c.(304-306)cCt>cAt	p.P102H	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	102					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	GAAGAAGATAGGTTCTGAAAT	0.493																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(304-306)cCt>cAt		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						141.0	118.0	126.0					2																	113590400		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113590400G>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.305C>A	2.37:g.113590400G>T	ENSP00000263341:p.Pro102His					IL1B_ENST00000491056.1_5'UTR	p.P102H	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			5	515	-			102					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.305C>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987669	0.53934	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.23	3.35	0.38373	Interleukin-1 propeptide (1);	0.452591	0.25660	N	0.029153	T	0.58708	0.2141	M	0.80028	2.48	0.09310	N	0.999999	D	0.55172	0.97	P	0.56163	0.793	T	0.51545	-0.8692	10	0.49607	T	0.09	-15.4892	6.6173	0.22784	0.0915:0.0:0.7325:0.176	.	102	P01584	IL1B_HUMAN	H	102	ENSP00000263341:P102H;ENSP00000407219:P102H;ENSP00000409680:P102H;ENSP00000400854:P102H	ENSP00000263341:P102H	P	-	2	0	IL1B	113306871	0.943000	0.32029	0.157000	0.22605	0.016000	0.09150	1.219000	0.32479	1.426000	0.47256	0.655000	0.94253	CCT		0.493	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		5	52	1	0	0.184627	1	0.186383	5	52				
STX4	6810	broad.mit.edu	37	16	31049324	31049324	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31049324C>T	ENST00000313843.3	+	6	771	c.456C>T	c.(454-456)aaC>aaT	p.N152N	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Silent_p.N150N	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	152					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGGAGAAGAACGTGGAGCGGA	0.547																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(448-450)aaC>aaT		syntaxin 4							122.0	125.0	124.0					16																	31049324		2197	4300	6497	SO:0001819	synonymous_variant	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31049324C>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.456C>T	16.37:g.31049324C>T						STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.N152N	p.N150N	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			7	793	+			152					A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	37	c.450C>T	CCDS10700.1																																																																																				0.547	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		13	36	0	0	0	1	0	13	36				
HPS6	79803	broad.mit.edu	37	10	103827248	103827248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103827248C>T	ENST00000299238.5	+	1	2102	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	673					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AATCTTCAAACTGCTGCTGGC	0.627									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(2017-2019)Ctg>Ttg		Hermansky-Pudlak syndrome 6							65.0	73.0	70.0					10																	103827248		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103827248C>T	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2017C>T	10.37:g.103827248C>T							p.L673L	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	2102	+		Colorectal(252;0.122)	673					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.2017C>T	CCDS7527.1																																																																																				0.627	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		24	40	0	0	0	1	0	24	40				
CNOT10	25904	broad.mit.edu	37	3	32778978	32778978	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32778978T>G	ENST00000328834.5	+	13	1907	c.1591T>G	c.(1591-1593)Tta>Gta	p.L531V	CNOT10_ENST00000331889.6_Intron|CNOT10_ENST00000454516.2_Missense_Mutation_p.L591V|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.L303V	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	531					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATTAGAAAACTTAAAGTGAGT	0.373																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1591-1593)Tta>Gta		CCR4-NOT transcription complex, subunit 10							60.0	58.0	59.0					3																	32778978		2202	4300	6502	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32778978T>G	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1591T>G	3.37:g.32778978T>G	ENSP00000330060:p.Leu531Val					CNOT10_ENST00000538368.1_Missense_Mutation_p.L303V|CNOT10_ENST00000454516.2_Missense_Mutation_p.L591V|CNOT10_ENST00000331889.6_Intron	p.L531V	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			13	1907	+			531					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1591T>G	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.722770	0.68959	.	.	ENSG00000182973	ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T	0.66280	0.62;-0.2;0.56	5.46	4.31	0.51392	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.81497	2.545	0.53005	D	0.999966	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.80764	0.986;0.994;0.994	T	0.77086	-0.2718	10	0.72032	D	0.01	-8.1827	7.981	0.30183	0.0:0.1592:0.0:0.8408	.	591;530;531	F8WAF2;Q9H9A5-2;Q9H9A5	.;.;CNOTA_HUMAN	V	531;303;591;78	ENSP00000330060:L531V;ENSP00000442552:L303V;ENSP00000399862:L591V	ENSP00000330060:L531V	L	+	1	2	CNOT10	32753982	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	2.833000	0.48159	0.919000	0.36945	0.533000	0.62120	TTA		0.373	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		4	35	0	0	0	1	0	4	35				
PLCH1	23007	broad.mit.edu	37	3	155199620	155199620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155199620C>T	ENST00000340059.7	-	23	4218	c.4219G>A	c.(4219-4221)Ggc>Agc	p.G1407S	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1369S|PLCH1_ENST00000460012.1_Missense_Mutation_p.G1369S|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1369S|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1407					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACAGTAGCCGTTTCTCAAA	0.413																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4105-4107)Ggc>Agc		phospholipase C, eta 1							84.0	85.0	85.0					3																	155199620		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199620C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4219G>A	3.37:g.155199620C>T	ENSP00000345988:p.Gly1407Ser					PLCH1_ENST00000334686.6_Missense_Mutation_p.G1369S|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1407S|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1369S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron	p.G1369S			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4462	-			1407					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4105G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379831	0.42207	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.47	5.47	0.80525	.	0.996923	0.08129	N	0.993535	T	0.75280	0.3828	L	0.34521	1.04	0.33461	D	0.584883	D;D	0.65815	0.995;0.991	P;B	0.49332	0.607;0.403	T	0.73244	-0.4044	10	0.51188	T	0.08	.	9.5797	0.39479	0.1571:0.6912:0.1517:0.0	.	1369;1407	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	S	1369;1407;1369;1369	ENSP00000417502:G1369S;ENSP00000345988:G1407S;ENSP00000335469:G1369S;ENSP00000412977:G1369S	ENSP00000335469:G1369S	G	-	1	0	PLCH1	156682314	0.572000	0.26668	0.971000	0.41717	0.189000	0.23516	1.968000	0.40500	2.559000	0.86315	0.585000	0.79938	GGC		0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		9	98	0	0	0	1	0	9	98				
PSMB11	122706	broad.mit.edu	37	14	23511605	23511605	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511605C>T	ENST00000408907.2	+	1	230	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCTTCCGCTTCCGTCATGGAG	0.637																																						ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(169-171)ttC>ttT		proteasome (prosome, macropain) subunit, beta type, 11							58.0	65.0	63.0					14																	23511605		2176	4262	6438	SO:0001819	synonymous_variant	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511605C>T		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.171C>T	14.37:g.23511605C>T							p.F57F	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	230	+	all_cancers(95;3.3e-05)		57						Silent	SNP	ENST00000408907.2	37	c.171C>T	CCDS41923.1																																																																																				0.637	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		4	44	0	0	0	1	0	4	44				
LPXN	9404	broad.mit.edu	37	11	58331658	58331658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58331658G>A	ENST00000395074.2	-	3	276	c.188C>T	c.(187-189)aCt>aTt	p.T63I	LPXN_ENST00000528489.1_Intron|LPXN_ENST00000528954.1_Missense_Mutation_p.T68I	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	63					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GATATTGGTAGTATACACGAG	0.303																																						ENST00000528954.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(202-204)aCt>aTt		leupaxin							59.0	64.0	63.0					11																	58331658		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58331658G>A	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.188C>T	11.37:g.58331658G>A	ENSP00000378512:p.Thr63Ile					LPXN_ENST00000528489.1_Intron|LPXN_ENST00000395074.2_Missense_Mutation_p.T63I	p.T68I	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN			3	322	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	63					B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.203C>T	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257724	0.10239	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.32753	1.44;1.45	4.8	2.91	0.33838	.	0.449748	0.21679	N	0.070745	T	0.27454	0.0674	M	0.65975	2.015	0.09310	N	0.999993	B;B	0.29955	0.003;0.263	B;B	0.25884	0.003;0.064	T	0.14476	-1.0471	10	0.33141	T	0.24	.	7.5709	0.27907	0.2022:0.0:0.7978:0.0	.	68;63	B4DV71;O60711	.;LPXN_HUMAN	I	68;63	ENSP00000431284:T68I;ENSP00000378512:T63I	ENSP00000378512:T63I	T	-	2	0	LPXN	58088234	0.957000	0.32711	0.010000	0.14722	0.232000	0.25224	2.010000	0.40913	0.688000	0.31529	0.563000	0.77884	ACT		0.303	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		11	35	0	0	0	1	0	11	35				
DOCK8	81704	broad.mit.edu	37	9	439372	439372	+	Missense_Mutation	SNP	C	C	T	rs139990627	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:439372C>T	ENST00000453981.1	+	40	5319	c.5207C>T	c.(5206-5208)gCg>gTg	p.A1736V	DOCK8_ENST00000382329.1_Missense_Mutation_p.A1203V|DOCK8_ENST00000432829.2_Missense_Mutation_p.A1668V|DOCK8_ENST00000469391.1_Missense_Mutation_p.A1636V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1736	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCAGGCCGCGGAGCTCTTC	0.642																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5002-5004)gCg>gTg		dedicator of cytokinesis 8		C	VAL/ALA,VAL/ALA,VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	53.0	49.0	50.0		4907,5003,5207	4.9	0.0	9	dbSNP_134	50	0,8600		0,0,4300	yes	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	64,64,64	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign,benign,benign	1636/2000,1668/2032,1736/2100	439372	7,12999	2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439372C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5207C>T	9.37:g.439372C>T	ENSP00000408464:p.Ala1736Val					DOCK8_ENST00000469391.1_Missense_Mutation_p.A1636V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A1203V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A1736V	p.A1668V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	40	5319	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1736			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5003C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287175	0.59867	0.001589	0.0	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.16597	2.56;2.56;2.54;2.33	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	L	0.41415	1.275	0.80722	D	1	B;B;B	0.33841	0.364;0.428;0.171	B;B;B	0.32624	0.128;0.149;0.094	T	0.06250	-1.0837	10	0.18276	T	0.48	.	18.2944	0.90140	0.0:1.0:0.0:0.0	.	1636;1203;1736	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	V	1736;1704;1668;1636;1203	ENSP00000408464:A1736V;ENSP00000394888:A1668V;ENSP00000419438:A1636V;ENSP00000371766:A1203V	ENSP00000287364:A1704V	A	+	2	0	DOCK8	429372	1.000000	0.71417	0.037000	0.18230	0.688000	0.40055	7.233000	0.78125	2.543000	0.85770	0.655000	0.94253	GCG		0.642	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		22	22	0	0	0	1	0	22	22				
TMEFF1	8577	broad.mit.edu	37	9	103338803	103338803	+	Missense_Mutation	SNP	G	G	A	rs199781136		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103338803G>A	ENST00000374879.4	+	10	1496	c.1064G>A	c.(1063-1065)tGc>tAc	p.C355Y	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.M318I|TMEFF1_ENST00000334943.6_Missense_Mutation_p.C316Y|MURC_ENST00000307584.5_5'Flank	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	355					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AACAGAAAATGCCCCAAAAAC	0.318																																						ENST00000374879.4																			0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(1063-1065)tGc>tAc		transmembrane protein with EGF-like and two follistatin-like domains 1							117.0	111.0	113.0					9																	103338803		2203	4300	6503	SO:0001583	missense	8577							g.chr9:103338803G>A	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.1064G>A	9.37:g.103338803G>A	ENSP00000364013:p.Cys355Tyr					MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.M318I|TMEFF1_ENST00000334943.6_Missense_Mutation_p.C316Y	p.C355Y	NM_003692.4	NP_003683.2					10	1496	+		Acute lymphoblastic leukemia(62;0.0452)						Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	c.1064G>A	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362431|3.362431	0.61403|0.61403	.|.	.|.	ENSG00000241697|ENSG00000251349	ENST00000334943;ENST00000374879|ENST00000502978	T;T|.	0.62232|.	0.1;0.04|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58652|0.58652	0.2137|0.2137	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.714;1.0|.	P;D|.	0.87578|.	0.496;0.998|.	T|T	0.49890|0.49890	-0.8891|-0.8891	10|5	0.07990|.	T|.	0.79|.	-23.0564|-23.0564	18.3732|18.3732	0.90420|0.90420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355;316|.	Q8IYR6;Q8IYR6-2|.	TEFF1_HUMAN;.|.	Y|I	316;355|318	ENSP00000334447:C316Y;ENSP00000364013:C355Y|.	ENSP00000334447:C316Y|.	C|M	+|+	2|3	0|0	TMEFF1|C9orf30-TMEFF1	102378624|102378624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.318	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		31	40	0	0	0	1	0	31	40				
CHSY1	22856	broad.mit.edu	37	15	101717621	101717621	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101717621T>G	ENST00000254190.3	-	3	2856	c.2381A>C	c.(2380-2382)aAt>aCt	p.N794T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	794					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCATTATTATTGCTGCTTTT	0.388																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(2380-2382)aAt>aCt		chondroitin sulfate synthase 1							81.0	84.0	83.0					15																	101717621		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101717621T>G	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2381A>C	15.37:g.101717621T>G	ENSP00000254190:p.Asn794Thr					CHSY1_ENST00000543813.1_5'UTR	p.N794T	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	2856	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		794					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.2381A>C	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375422	0.24857	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.36157	1.27	5.78	3.28	0.37604	.	0.639746	0.16215	N	0.224284	T	0.15392	0.0371	N	0.08118	0	0.24258	N	0.995293	B	0.17038	0.02	B	0.17433	0.018	T	0.29882	-0.9997	10	0.13470	T	0.59	-16.4011	4.7182	0.12904	0.1349:0.1778:0.0:0.6873	.	794	Q86X52	CHSS1_HUMAN	T	794;522	ENSP00000254190:N794T	ENSP00000254190:N794T	N	-	2	0	CHSY1	99535144	1.000000	0.71417	0.646000	0.29493	0.967000	0.64934	2.258000	0.43249	0.368000	0.24481	0.459000	0.35465	AAT		0.388	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		18	37	0	0	0	1	0	18	37				
ZSCAN32	54925	broad.mit.edu	37	16	3434792	3434792	+	Missense_Mutation	SNP	G	G	A	rs566315752		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3434792G>A	ENST00000396852.4	-	6	1208	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	301					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										TCTGGGGTCCGCAGAAAACCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.001		0.0	False		,,,				2504	0.0					ENST00000396852.4																			0											c.(901-903)Cgg>Tgg		zinc finger and SCAN domain containing 32							149.0	156.0	154.0					16																	3434792		2197	4300	6497	SO:0001583	missense	54925							g.chr16:3434792G>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.901C>T	16.37:g.3434792G>A	ENSP00000380061:p.Arg301Trp					ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W	p.R301W							6	1208	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	14.15	2.450425	0.43531	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	3.38	-6.77	0.01727	.	1.517890	0.05004	N	0.469693	T	0.76040	0.3932	H	0.95712	3.71	0.09310	N	1	D;B;B	0.89917	1.0;0.005;0.005	D;B;B	0.97110	1.0;0.002;0.002	T	0.74512	-0.3641	10	0.87932	D	0	.	6.7168	0.23308	0.5388:0.2234:0.2378:0.0	.	89;89;301	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	W	89;301;301;12;89	ENSP00000302502:R89W;ENSP00000380061:R301W;ENSP00000380057:R301W;ENSP00000391787:R12W;ENSP00000407312:R89W	ENSP00000302502:R89W	R	-	1	2	ZNF434	3374793	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-3.830000	0.00355	-2.262000	0.00690	-0.345000	0.07892	CGG		0.502	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		84	156	0	0	0	1	0	84	156				
MYH7	4625	broad.mit.edu	37	14	23900677	23900677	+	Missense_Mutation	SNP	C	C	T	rs3218713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23900677C>T	ENST00000355349.3	-	9	908	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	249	Myosin motor.		R -> Q (in CMH1; dbSNP:rs3218713). {ECO:0000269|PubMed:10065021, ECO:0000269|PubMed:11133230, ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:1552912}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AAAATGAATTCGAATGAATTT	0.507																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM910268	MYH7	M	rs3218713	c.(745-747)cGa>cAa		myosin, heavy chain 7, cardiac muscle, beta							143.0	140.0	141.0					14																	23900677		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900677C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.746G>A	14.37:g.23900677C>T	ENSP00000347507:p.Arg249Gln						p.R249Q	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	9	908	-	all_cancers(95;2.54e-05)		249		R -> Q (in CMH1; dbSNP:rs3218713).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.746G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442746	0.63067	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95069	-3.6	3.47	3.47	0.39725	Myosin head, motor domain (3);	.	.	.	.	D	0.96503	0.8859	M	0.74647	2.275	0.58432	D	0.999999	D	0.67145	0.996	D	0.65010	0.931	D	0.97169	0.9843	9	0.87932	D	0	.	15.4877	0.75578	0.0:1.0:0.0:0.0	rs3218713;rs3218713	249	P12883	MYH7_HUMAN	Q	249	ENSP00000347507:R249Q	ENSP00000347507:R249Q	R	-	2	0	MYH7	22970517	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	7.416000	0.80143	1.946000	0.56461	0.305000	0.20034	CGA		0.507	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		48	81	0	0	0	1	0	48	81				
ABTB2	25841	broad.mit.edu	37	11	34175835	34175835	+	Missense_Mutation	SNP	C	C	T	rs539287676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34175835C>T	ENST00000435224.2	-	16	3281	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	ABTB2_ENST00000298992.2_Missense_Mutation_p.V767M	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	953					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TAGGTGTTCACGGCACTCTCC	0.632																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2857-2859)Gtg>Atg		ankyrin repeat and BTB (POZ) domain containing 2							114.0	81.0	93.0					11																	34175835		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34175835C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2857G>A	11.37:g.34175835C>T	ENSP00000410157:p.Val953Met					ABTB2_ENST00000298992.2_Missense_Mutation_p.V767M	p.V953M	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			16	3281	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	767					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2857G>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533717	0.64972	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.62788	0.0;0.0	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.81797	-0.0768	10	0.87932	D	0	.	16.8892	0.86082	0.0:1.0:0.0:0.0	.	767	Q8N961	ABTB2_HUMAN	M	953;767	ENSP00000410157:V953M;ENSP00000298992:V767M	ENSP00000298992:V767M	V	-	1	0	ABTB2	34132411	1.000000	0.71417	0.981000	0.43875	0.309000	0.27889	7.818000	0.86416	1.972000	0.57404	0.313000	0.20887	GTG		0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		10	13	0	0	0	1	0	10	13				
ENO3	2027	broad.mit.edu	37	17	4858806	4858806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4858806G>A	ENST00000323997.6	+	8	904	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ENO3_ENST00000518175.1_Missense_Mutation_p.D258N|ENO3_ENST00000519584.1_Missense_Mutation_p.D215N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	258					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGGAAGTACGATCTTGACTT	0.542																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(772-774)Gat>Aat		enolase 3 (beta, muscle)							229.0	225.0	226.0					17																	4858806		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858806G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.772G>A	17.37:g.4858806G>A	ENSP00000324105:p.Asp258Asn					ENO3_ENST00000518175.1_Missense_Mutation_p.D258N|ENO3_ENST00000519584.1_Missense_Mutation_p.D215N	p.D258N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			8	904	+			258					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.772G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888989	0.91814	.	.	ENSG00000108515	ENST00000519602;ENST00000323997;ENST00000519584;ENST00000518175	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.84	5.84	0.93424	Enolase, C-terminal (1);	0.047660	0.85682	N	0.000000	T	0.62588	0.2440	M	0.77820	2.39	0.80722	D	1	P;B;P;P	0.39737	0.685;0.209;0.685;0.685	B;B;B;B	0.43445	0.42;0.171;0.305;0.42	T	0.65582	-0.6133	10	0.56958	D	0.05	-4.9681	17.6948	0.88278	0.0:0.0:1.0:0.0	.	258;215;165;258	P13929;P13929-3;D3DTL4;D3DTL2	ENOB_HUMAN;.;.;.	N	258;258;215;258	ENSP00000430055:D258N;ENSP00000324105:D258N;ENSP00000430636:D215N;ENSP00000431087:D258N	ENSP00000324105:D258N	D	+	1	0	ENO3	4799552	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	8.024000	0.88770	2.786000	0.95864	0.585000	0.79938	GAT		0.542	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			109	158	0	0	0	1	0	109	158				
RAD54B	25788	broad.mit.edu	37	8	95412549	95412549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95412549G>A	ENST00000336148.5	-	7	1211	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	363	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAGCTTCCAGGTGTGACAATT	0.393								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1087-1089)Cct>Tct	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							91.0	88.0	89.0					8																	95412549		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95412549G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1087C>T	8.37:g.95412549G>A	ENSP00000336606:p.Pro363Ser						p.P363S	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		7	1211	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.1087C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035291	0.93630	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.97959	-4.63	5.51	5.51	0.81932	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	H	0.99732	4.735	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97933	1.0321	10	0.87932	D	0	-12.802	19.4213	0.94723	0.0:0.0:1.0:0.0	.	363	Q9Y620	RA54B_HUMAN	S	363;36	ENSP00000336606:P363S	ENSP00000336606:P363S	P	-	1	0	RAD54B	95481725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.589000	0.87451	0.655000	0.94253	CCT		0.393	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		8	48	0	0	0	1	0	8	48				
CRTAC1	55118	broad.mit.edu	37	10	99677334	99677334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99677334G>T	ENST00000370597.3	-	5	993	c.638C>A	c.(637-639)cCt>cAt	p.P213H	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P213H|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P213H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	213						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTGGCCTCAGGGTCCATTTC	0.557																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(637-639)cCt>cAt		cartilage acidic protein 1							66.0	54.0	58.0					10																	99677334		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99677334G>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.638C>A	10.37:g.99677334G>T	ENSP00000359629:p.Pro213His					CRTAC1_ENST00000370591.2_Missense_Mutation_p.P213H|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P213H	p.P213H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	5	993	-		Colorectal(252;0.24)	213					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.638C>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268024	0.59540	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.28	5.28	0.74379	.	0.189888	0.45606	D	0.000357	T	0.15478	0.0373	N	0.08118	0	0.32989	D	0.524674	P;P;P	0.47962	0.903;0.883;0.844	P;B;B	0.46940	0.532;0.325;0.332	T	0.08889	-1.0700	10	0.45353	T	0.12	-11.6612	6.2638	0.20915	0.0888:0.0:0.5914:0.3198	.	213;213;109	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	H	109;213;213;205;213	ENSP00000408445:P109H;ENSP00000359629:P213H;ENSP00000298819:P213H;ENSP00000310810:P205H;ENSP00000359623:P213H	ENSP00000298819:P213H	P	-	2	0	CRTAC1	99667324	1.000000	0.71417	0.959000	0.39883	0.954000	0.61252	4.262000	0.58847	2.473000	0.83533	0.467000	0.42956	CCT		0.557	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		4	30	1	0	0.00909568	1	0.00947522	4	30				
DSCAM	1826	broad.mit.edu	37	21	41710040	41710040	+	Missense_Mutation	SNP	C	C	T	rs376716215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41710040C>T	ENST00000400454.1	-	8	2248	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	591	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACGGTCACGTGGACGCTC	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1771-1773)Gtg>Atg		Down syndrome cell adhesion molecule							140.0	141.0	140.0					21																	41710040		2081	4214	6295	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710040C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1771G>A	21.37:g.41710040C>T	ENSP00000383303:p.Val591Met						p.V591M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2248	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	591			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1771G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390084	0.82902	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.80123	-1.34;-1.34	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.067420	0.64402	D	0.000015	D	0.88455	0.6441	M	0.88775	2.98	0.58432	D	0.999997	D	0.61080	0.989	P	0.51016	0.656	D	0.90751	0.4657	10	0.72032	D	0.01	.	19.2329	0.93847	0.0:1.0:0.0:0.0	.	591	O60469	DSCAM_HUMAN	M	591;343	ENSP00000383303:V591M;ENSP00000385342:V343M	ENSP00000383303:V591M	V	-	1	0	DSCAM	40631910	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.607000	0.82883	2.617000	0.88574	0.655000	0.94253	GTG		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		43	94	0	0	0	1	0	43	94				
ANKRD19P	138649	broad.mit.edu	37	9	95599978	95599978	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95599978G>A	ENST00000473204.1	+	0	2059							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											AGGACGCGACGACCAGGGAGG	0.453																																						ENST00000473204.1																			0																																																			0							g.chr9:95599978G>A	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599978G>A														0	2059	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.453	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		6	6	0	0	0	1	0	6	6				
BPIFB4	149954	broad.mit.edu	37	20	31672753	31672753	+	Missense_Mutation	SNP	G	G	A	rs145491929		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31672753G>A	ENST00000375483.3	+	4	733	c.733G>A	c.(733-735)Gtg>Atg	p.V245M		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	245						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCTGCCCGGCGTGGGTGTCTA	0.667																																						ENST00000375483.3																			0											c.(733-735)Gtg>Atg		BPI fold containing family B, member 4		G	MET/VAL	0,4406		0,0,2203	54.0	42.0	46.0		733	3.4	1.0	20	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFB4	NM_182519.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	245/615	31672753	1,13005	2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31672753G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.733G>A	20.37:g.31672753G>A	ENSP00000364632:p.Val245Met						p.V245M	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			4	733	+			245					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.733G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406176	0.62288	0.0	1.16E-4	ENSG00000186191	ENST00000375483	T	0.06687	3.27	3.39	3.39	0.38822	.	0.264809	0.26279	N	0.025284	T	0.15565	0.0375	L	0.38175	1.15	0.30405	N	0.779666	D	0.89917	1.0	D	0.64042	0.921	T	0.00989	-1.1489	10	0.62326	D	0.03	-9.4267	10.14	0.42730	0.0:0.0:1.0:0.0	.	245	P59827	BPIB4_HUMAN	M	245	ENSP00000364632:V245M	ENSP00000364632:V245M	V	+	1	0	BPIFB4	31136414	0.960000	0.32886	0.998000	0.56505	0.896000	0.52359	1.654000	0.37334	1.749000	0.51849	0.484000	0.47621	GTG		0.667	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		12	14	0	0	0	1	0	12	14				
COL9A1	1297	broad.mit.edu	37	6	71003927	71003927	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71003927G>A	ENST00000357250.6	-	5	797	c.639C>T	c.(637-639)gaC>gaT	p.D213D	COL9A1_ENST00000370496.3_Silent_p.D213D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	213	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCCATCAATGTCAATTGGGC	0.408																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(637-639)gaC>gaT		collagen, type IX, alpha 1							123.0	120.0	121.0					6																	71003927		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71003927G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.639C>T	6.37:g.71003927G>A						COL9A1_ENST00000370496.3_Silent_p.D213D	p.D213D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			5	797	-			213			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.639C>T	CCDS4971.1																																																																																				0.408	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			55	109	0	0	0	1	0	55	109				
SYNE1	23345	broad.mit.edu	37	6	152712526	152712526	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152712526C>A	ENST00000367255.5	-	52	8491	c.7890G>T	c.(7888-7890)gaG>gaT	p.E2630D	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2630D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2669D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2637D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2637D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2630					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGTGCTTCCTCCAGGGCTT	0.562										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(7888-7890)gaG>gaT		spectrin repeat containing, nuclear envelope 1							82.0	74.0	76.0					6																	152712526		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152712526C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7890G>T	6.37:g.152712526C>A	ENSP00000356224:p.Glu2630Asp	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.E2669D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2630D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2637D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2637D	p.E2630D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	52	8491	-		Ovarian(120;0.0955)	2630					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7890G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765235	0.49574	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55588	0.6;0.6;0.51;0.6;0.75	5.76	-1.79	0.07932	.	0.000000	0.64402	D	0.000020	T	0.47619	0.1455	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.71674	0.988;0.992;0.992;0.998	P;P;P;D	0.63877	0.76;0.831;0.831;0.919	T	0.56202	-0.8018	10	0.15066	T	0.55	.	12.7218	0.57146	0.0:0.316:0.0:0.684	.	2613;2630;2630;2637	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	2630;2637;2630;2637;2669	ENSP00000356224:E2630D;ENSP00000396024:E2637D;ENSP00000265368:E2630D;ENSP00000390975:E2637D;ENSP00000341887:E2669D	ENSP00000265368:E2630D	E	-	3	2	SYNE1	152754219	1.000000	0.71417	0.655000	0.29622	0.697000	0.40408	0.602000	0.24134	-0.422000	0.07405	-0.793000	0.03317	GAG		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		20	23	1	0	9.7654e-05	1	0.000108049	20	23				
SLC9A2	6549	broad.mit.edu	37	2	103317600	103317600	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103317600T>C	ENST00000233969.2	+	8	1800	c.1658T>C	c.(1657-1659)gTa>gCa	p.V553A	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	553					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAAGTATTGTATCTTTATAT	0.323																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1657-1659)gTa>gCa		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							55.0	58.0	57.0					2																	103317600		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103317600T>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1658T>C	2.37:g.103317600T>C	ENSP00000233969:p.Val553Ala					SLC9A2_ENST00000469286.1_3'UTR	p.V553A	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			8	1800	+			553					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1658T>C	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320926	0.81580	.	.	ENSG00000115616	ENST00000233969	T	0.47177	0.85	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.77616	2.38	0.51767	D	0.999931	D	0.71674	0.998	D	0.74674	0.984	T	0.71606	-0.4542	10	0.49607	T	0.09	.	15.7353	0.77837	0.0:0.0:0.0:1.0	.	553	Q9UBY0	SL9A2_HUMAN	A	553	ENSP00000233969:V553A	ENSP00000233969:V553A	V	+	2	0	SLC9A2	102684032	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.440000	0.73435	2.121000	0.65114	0.383000	0.25322	GTA		0.323	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			26	28	0	0	0	1	0	26	28				
TANC1	85461	broad.mit.edu	37	2	160055501	160055501	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160055501C>T	ENST00000263635.6	+	19	3418	c.3181C>T	c.(3181-3183)Ctg>Ttg	p.L1061L	TANC1_ENST00000454300.1_Silent_p.L955L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1061					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTGCTTGCTGGGGATGGA	0.463																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3181-3183)Ctg>Ttg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							116.0	121.0	119.0					2																	160055501		2020	4176	6196	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160055501C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3181C>T	2.37:g.160055501C>T						TANC1_ENST00000454300.1_Silent_p.L955L	p.L1061L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			19	3418	+			1061					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.3181C>T	CCDS42766.1																																																																																				0.463	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			11	29	0	0	0	1	0	11	29				
ZNF160	90338	broad.mit.edu	37	19	53571786	53571786	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53571786A>G	ENST00000429604.1	-	7	2416	c.2001T>C	c.(1999-2001)caT>caC	p.H667H	ZNF160_ENST00000601421.1_Silent_p.H631H|ZNF160_ENST00000599056.1_Silent_p.H667H|ZNF160_ENST00000418871.1_Silent_p.H667H	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	667					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGATGACCTTATGGGTAGTTA	0.428																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1891-1893)caT>caC		zinc finger protein 160							150.0	138.0	142.0					19																	53571786		2203	4300	6503	SO:0001819	synonymous_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53571786A>G	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2001T>C	19.37:g.53571786A>G						ZNF160_ENST00000418871.1_Silent_p.H667H|ZNF160_ENST00000599056.1_Silent_p.H667H|ZNF160_ENST00000429604.1_Silent_p.H667H	p.H631H			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2769	-			667					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	c.1893T>C	CCDS12859.1																																																																																				0.428	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		13	121	0	0	0	1	0	13	121				
NAA25	80018	broad.mit.edu	37	12	112528603	112528603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112528603C>A	ENST00000261745.4	-	3	458	c.210G>T	c.(208-210)gaG>gaT	p.E70D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	70						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGCTGCCACCTCCTGTGCAA	0.413																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(208-210)gaG>gaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							155.0	139.0	144.0					12																	112528603		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112528603C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.210G>T	12.37:g.112528603C>A	ENSP00000261745:p.Glu70Asp						p.E70D	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			3	458	-			70					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.210G>T	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.141934|2.141934	0.37825|0.37825	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000261745|ENST00000547133	T|.	0.38887|.	1.11|.	5.4|5.4	-1.15|-1.15	0.09709|0.09709	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.108662|.	0.64402|.	D|.	0.000010|.	T|T	0.48114|0.48114	0.1482|0.1482	L|L	0.33792|0.33792	1.035|1.035	0.52099|0.52099	D|D	0.999948|0.999948	P;D|.	0.76494|.	0.539;0.999|.	B;D|.	0.78314|.	0.125;0.991|.	T|T	0.32161|0.32161	-0.9917|-0.9917	10|5	0.30078|.	T|.	0.28|.	-5.7886|-5.7886	9.9105|9.9105	0.41403|0.41403	0.0:0.339:0.0:0.661|0.0:0.339:0.0:0.661	.|.	70;70|.	A8K8X0;Q14CX7|.	.;NAA25_HUMAN|.	D|C	70|32	ENSP00000261745:E70D|.	ENSP00000261745:E70D|.	E|G	-|-	3|1	2|0	NAA25|NAA25	111012986|111012986	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	0.543000|0.543000	0.23237|0.23237	-0.086000|-0.086000	0.12550|0.12550	0.650000|0.650000	0.86243|0.86243	GAG|GGT		0.413	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		49	98	1	0	9.22156e-22	1	1.21485e-21	49	98				
LRP4	4038	broad.mit.edu	37	11	46898317	46898317	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46898317C>A	ENST00000378623.1	-	24	3584	c.3342G>T	c.(3340-3342)caG>caT	p.Q1114H	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1114					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTCCTCATGCTGTGAGCCAT	0.542																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3340-3342)caG>caT		low density lipoprotein receptor-related protein 4							206.0	165.0	179.0					11																	46898317		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898317C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3342G>T	11.37:g.46898317C>A	ENSP00000367888:p.Gln1114His						p.Q1114H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	24	3584	-			1114					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3342G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	7.514	0.655328	0.14580	.	.	ENSG00000134569	ENST00000378623	D	0.95272	-3.66	5.75	3.71	0.42584	Six-bladed beta-propeller, TolB-like (1);	0.495235	0.22954	N	0.053628	D	0.84138	0.5406	N	0.11341	0.13	0.32760	N	0.505251	B	0.02656	0.0	B	0.12156	0.007	T	0.77515	-0.2559	10	0.16896	T	0.51	.	5.4971	0.16809	0.1293:0.5637:0.2287:0.0783	.	1114	O75096	LRP4_HUMAN	H	1114	ENSP00000367888:Q1114H	ENSP00000367888:Q1114H	Q	-	3	2	LRP4	46854893	0.888000	0.30383	1.000000	0.80357	0.129000	0.20672	0.549000	0.23329	2.725000	0.93324	0.655000	0.94253	CAG		0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	180	1	0	0.00829132	1	0.00869385	8	180				
PCDHB16	57717	broad.mit.edu	37	5	140564037	140564037	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140564037G>A	ENST00000361016.2	+	1	3058	c.1903G>A	c.(1903-1905)Gca>Aca	p.A635T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCAGCCAAGCA	0.692																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1903-1905)Gca>Aca									25.0	27.0	27.0					5																	140564037		2075	4037	6112	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564037G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1903G>A	5.37:g.140564037G>A	ENSP00000354293:p.Ala635Thr						p.A635T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3058	+			635			Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1903G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	12.59	1.982632	0.34942	.	.	ENSG00000196963	ENST00000361016	T	0.50001	0.76	3.96	3.96	0.45880	Cadherin (4);Cadherin-like (1);	0.513015	0.14577	N	0.311133	T	0.39118	0.1066	L	0.35854	1.095	0.20821	N	0.999848	B	0.22604	0.072	B	0.26310	0.068	T	0.37865	-0.9687	10	0.87932	D	0	.	9.5896	0.39537	0.0999:0.0:0.9001:0.0	.	635	Q9NRJ7	PCDBG_HUMAN	T	635	ENSP00000354293:A635T	ENSP00000354293:A635T	A	+	1	0	PCDHB16	140544221	0.000000	0.05858	0.879000	0.34478	0.493000	0.33554	-0.176000	0.09811	1.771000	0.52183	0.298000	0.19748	GCA		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		9	56	0	0	0	1	0	9	56				
CTC1	80169	broad.mit.edu	37	17	8131841	8131841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8131841G>A	ENST00000315684.8	-	22	3501	c.3494C>T	c.(3493-3495)cCg>cTg	p.P1165L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1165					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GATCTTCGACGGTTTCCTTTC	0.527																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3493-3495)cCg>cTg		CTS telomere maintenance complex component 1							289.0	288.0	288.0					17																	8131841		1934	4138	6072	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131841G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3494C>T	17.37:g.8131841G>A	ENSP00000313759:p.Pro1165Leu						p.P1165L	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			22	3501	-			1165					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3494C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766722	0.49574	.	.	ENSG00000178971	ENST00000315684	D	0.83914	-1.78	5.8	5.8	0.92144	.	0.128059	0.53938	D	0.000057	D	0.89396	0.6703	M	0.70595	2.14	0.51482	D	0.999922	D	0.67145	0.996	P	0.62089	0.898	D	0.90086	0.4174	10	0.87932	D	0	-14.207	15.561	0.76244	0.0:0.0:1.0:0.0	.	1165	Q2NKJ3	CTC1_HUMAN	L	1165	ENSP00000313759:P1165L	ENSP00000313759:P1165L	P	-	2	0	CTC1	8072566	1.000000	0.71417	0.984000	0.44739	0.372000	0.29890	3.699000	0.54778	2.755000	0.94549	0.655000	0.94253	CCG		0.527	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		17	348	0	0	0	1	0	17	348				
WDR44	54521	broad.mit.edu	37	X	117528036	117528036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117528036C>T	ENST00000254029.3	+	5	1240	c.845C>T	c.(844-846)aCg>aTg	p.T282M	WDR44_ENST00000371825.3_Missense_Mutation_p.T282M|WDR44_ENST00000371822.5_Missense_Mutation_p.T257M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	282						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGAATATTACGTCTGATTCT	0.383																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(844-846)aCg>aTg		WD repeat domain 44							102.0	92.0	95.0					X																	117528036		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117528036C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.845C>T	X.37:g.117528036C>T	ENSP00000254029:p.Thr282Met					WDR44_ENST00000371825.3_Missense_Mutation_p.T282M|WDR44_ENST00000371822.5_Missense_Mutation_p.T257M	p.T282M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			5	1240	+			282					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.845C>T	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827177	0.32329	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.73575	-0.76;-0.17;-0.05	5.43	4.54	0.55810	.	0.420625	0.28130	N	0.016490	T	0.50326	0.1609	N	0.08118	0	0.09310	N	1	P;P;B	0.40553	0.459;0.721;0.33	B;B;B	0.34873	0.191;0.191;0.094	T	0.45542	-0.9254	10	0.49607	T	0.09	-23.6211	8.4057	0.32614	0.0:0.8122:0.0:0.1878	.	257;282;282	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	M	257;282;282	ENSP00000360887:T257M;ENSP00000254029:T282M;ENSP00000360890:T282M	ENSP00000254029:T282M	T	+	2	0	WDR44	117412064	0.209000	0.23505	0.662000	0.29724	0.969000	0.65631	2.365000	0.44196	1.011000	0.39340	0.600000	0.82982	ACG		0.383	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		6	78	0	0	0	1	0	6	78				
CUL4B	8450	broad.mit.edu	37	X	119693958	119693958	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119693958A>G	ENST00000404115.3	-	3	991	c.590T>C	c.(589-591)tTa>tCa	p.L197S	CUL4B_ENST00000371322.5_Missense_Mutation_p.L179S|CUL4B_ENST00000336592.6_Missense_Mutation_p.L184S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	197					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGATCACTAACTTCTTAGC	0.423																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(535-537)tTa>tCa		cullin 4B							141.0	128.0	132.0					X																	119693958		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119693958A>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.590T>C	X.37:g.119693958A>G	ENSP00000384109:p.Leu197Ser					CUL4B_ENST00000404115.3_Missense_Mutation_p.L197S|CUL4B_ENST00000336592.6_Missense_Mutation_p.L184S	p.L179S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	597	-			197			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.536T>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026715	0.54683	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.77358	-1.07;-1.07;-1.09	5.43	4.27	0.50696	.	0.000000	0.64402	D	0.000001	D	0.82788	0.5113	L	0.55990	1.75	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.70935	0.937;0.971	T	0.80502	-0.1354	9	.	.	.	-6.8413	9.6016	0.39607	0.9171:0.0:0.0829:0.0	.	197;179	Q13620;Q13620-1	CUL4B_HUMAN;.	S	179;184;197	ENSP00000360373:L179S;ENSP00000338919:L184S;ENSP00000384109:L197S	.	L	-	2	0	CUL4B	119577986	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.339000	0.96797	0.720000	0.32209	-0.451000	0.05528	TTA		0.423	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		41	84	0	0	0	1	0	41	84				
FAM208A	23272	broad.mit.edu	37	3	56661162	56661162	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56661162T>G	ENST00000493960.2	-	21	4052	c.4042A>C	c.(4042-4044)Aat>Cat	p.N1348H	FAM208A_ENST00000431842.2_Missense_Mutation_p.N911H|FAM208A_ENST00000485156.1_5'Flank|FAM208A_ENST00000355628.5_Missense_Mutation_p.N1287H	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1348							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTCAAAAAATTTTTAAGGTTC	0.299																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(2731-2733)Aat>Cat		family with sequence similarity 208, member A							62.0	63.0	63.0					3																	56661162		2202	4296	6498	SO:0001583	missense	23272							g.chr3:56661162T>G	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4042A>C	3.37:g.56661162T>G	ENSP00000417509:p.Asn1348His					FAM208A_ENST00000493960.2_Missense_Mutation_p.N1348H|FAM208A_ENST00000355628.5_Missense_Mutation_p.N1287H	p.N911H	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			14	3655	-			1348					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.2731A>C	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196073	0.38806	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.44881	0.91;0.91;0.91	6.06	4.86	0.63082	.	0.853808	0.10675	N	0.647034	T	0.39517	0.1081	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.39964	0.474;0.606;0.697;0.641	B;B;B;B	0.42282	0.249;0.382;0.249;0.19	T	0.33240	-0.9876	10	0.49607	T	0.09	-0.5812	15.2028	0.73153	0.0:0.0:0.1523:0.8477	.	1348;1287;911;1348	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	H	911;1348;1287	ENSP00000399410:N911H;ENSP00000417509:N1348H;ENSP00000347845:N1287H	ENSP00000347845:N1287H	N	-	1	0	C3orf63	56636202	0.794000	0.28838	0.998000	0.56505	0.949000	0.60115	0.779000	0.26746	2.323000	0.78572	0.528000	0.53228	AAT		0.299	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		12	40	0	0	0	1	0	12	40				
METTL16	79066	broad.mit.edu	37	17	2323636	2323636	+	Silent	SNP	G	G	A	rs199617573		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2323636G>A	ENST00000263092.6	-	10	1444	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Silent_p.G221G	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	439							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CGGCAGCCTCGCCTTCCCGCA	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13924	0.0		0.0	False		,,,				2504	0.0					ENST00000263092.5																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1315-1317)ggC>ggT		methyltransferase like 16		G		1,3665		0,1,1832	55.0	62.0	60.0		1317	0.8	0.0	17		60	1,8149		0,1,4074	no	coding-synonymous	METTL16	NM_024086.3		0,2,5906	AA,AG,GG		0.0123,0.0273,0.0169		439/563	2323636	2,11814	1833	4075	5908	SO:0001819	synonymous_variant	79066						methyltransferase activity	g.chr17:2323636G>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1317C>T	17.37:g.2323636G>A						METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Silent_p.G221G	p.G439G	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN			10	1444	-			439					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	ENST00000263092.6	37	c.1317C>T	CCDS42232.1																																																																																				0.642	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		37	63	0	0	0	1	0	37	63				
DYSF	8291	broad.mit.edu	37	2	71776489	71776489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71776489C>T	ENST00000258104.3	+	17	1767	c.1490C>T	c.(1489-1491)gCa>gTa	p.A497V	DYSF_ENST00000409366.1_Missense_Mutation_p.A498V|DYSF_ENST00000394120.2_Missense_Mutation_p.A498V|DYSF_ENST00000409651.1_Missense_Mutation_p.A529V|DYSF_ENST00000429174.2_Missense_Mutation_p.A497V|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000413539.2_Missense_Mutation_p.A528V|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000410020.3_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	497					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGAGCCTGCAGGTGCTGTC	0.577																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1489-1491)gCa>gTa		dysferlin							68.0	61.0	63.0					2																	71776489		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71776489C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1490C>T	2.37:g.71776489C>T	ENSP00000258104:p.Ala497Val					DYSF_ENST00000413539.2_Missense_Mutation_p.A528V|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000394120.2_Missense_Mutation_p.A498V|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000409651.1_Missense_Mutation_p.A529V|DYSF_ENST00000409366.1_Missense_Mutation_p.A498V|DYSF_ENST00000429174.2_Missense_Mutation_p.A497V	p.A497V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			17	1767	+			497					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1490C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039535	0.35989	.	.	ENSG00000135636	ENST00000413539;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409366	D;D;D;D;D;D	0.83163	-1.69;-1.68;-1.69;-1.69;-1.69;-1.69	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);	0.645990	0.14337	N	0.325963	T	0.68192	0.2974	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B	0.18166	0.026;0.026;0.026;0.01;0.012;0.006	B;B;B;B;B;B	0.20184	0.028;0.028;0.028;0.013;0.02;0.006	T	0.61667	-0.7016	10	0.15066	T	0.55	.	14.6668	0.68915	0.0:1.0:0.0:0.0	.	529;498;528;497;498;497	O75923-8;O75923-10;O75923-2;O75923-4;O75923-14;O75923	.;.;.;.;.;DYSF_HUMAN	V	528;497;497;529;498;498	ENSP00000407046:A528V;ENSP00000398305:A497V;ENSP00000258104:A497V;ENSP00000386683:A529V;ENSP00000377678:A498V;ENSP00000386512:A498V	ENSP00000258104:A497V	A	+	2	0	DYSF	71629997	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.259000	0.51515	2.612000	0.88384	0.655000	0.94253	GCA		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	7	0	0	0	1	0	5	7				
SLC41A1	254428	broad.mit.edu	37	1	205767837	205767837	+	Silent	SNP	C	C	T	rs143860467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205767837C>T	ENST00000367137.3	-	6	1818	c.804G>A	c.(802-804)gcG>gcA	p.A268A	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGAGAGCAGCGCCAAGGTGA	0.567																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(802-804)gcG>gcA		solute carrier family 41 (magnesium transporter), member 1		C		1,4405	2.1+/-5.4	0,1,2202	99.0	96.0	97.0		804	-3.9	1.0	1	dbSNP_134	97	1,8599		0,1,4299	no	coding-synonymous	SLC41A1	NM_173854.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		268/514	205767837	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205767837C>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.804G>A	1.37:g.205767837C>T						SLC41A1_ENST00000468057.1_5'UTR	p.A268A	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		6	1818	-	Breast(84;0.0799)		268					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	c.804G>A	CCDS30988.1																																																																																				0.567	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			26	52	0	0	0	1	0	26	52				
PCDHA5	56143	broad.mit.edu	37	5	140202078	140202078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140202078G>A	ENST00000529859.1	+	1	718	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E240K|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E240K|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGCCCCAGAATTTGATAA	0.388																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(718-720)Gaa>Aaa									78.0	82.0	81.0					5																	140202078		2203	4300	6503	SO:0001583	missense	0							g.chr5:140202078G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.718G>A	5.37:g.140202078G>A	ENSP00000436557:p.Glu240Lys					PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E240K|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E240K|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.E240K	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	718	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.718G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	9.071	0.996926	0.19043	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.61510	0.1;0.1;0.1	4.11	-0.451	0.12214	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.37945	0.1022	L	0.27944	0.81	0.09310	N	1	B;B;B	0.18013	0.025;0.01;0.019	B;B;B	0.20955	0.032;0.008;0.012	T	0.25398	-1.0133	9	0.44086	T	0.13	.	3.0907	0.06293	0.3051:0.1122:0.4691:0.1135	.	240;240;240	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	240	ENSP00000433416:E240K;ENSP00000436557:E240K;ENSP00000367366:E240K	ENSP00000367366:E240K	E	+	1	0	PCDHA5	140182262	0.000000	0.05858	0.044000	0.18714	0.986000	0.74619	-0.747000	0.04823	-0.074000	0.12820	-0.136000	0.14681	GAA		0.388	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		39	50	0	0	0	1	0	39	50				
ARAP2	116984	broad.mit.edu	37	4	36134931	36134931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36134931C>T	ENST00000303965.4	-	20	3833	c.3344G>A	c.(3343-3345)gGt>gAt	p.G1115D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1115					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAGCATTACCATCTGTACC	0.378																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3343-3345)gGt>gAt		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							161.0	137.0	145.0					4																	36134931		2202	4300	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36134931C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3344G>A	4.37:g.36134931C>T	ENSP00000302895:p.Gly1115Asp						p.G1115D	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			20	3833	-			1115					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3344G>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997136	0.93167	.	.	ENSG00000047365	ENST00000303965	T	0.12569	2.67	5.81	5.81	0.92471	.	0.056720	0.64402	D	0.000001	T	0.41534	0.1163	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.15150	-1.0447	10	0.72032	D	0.01	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	1115	Q8WZ64	ARAP2_HUMAN	D	1115	ENSP00000302895:G1115D	ENSP00000302895:G1115D	G	-	2	0	ARAP2	35811326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.653000	0.67967	2.736000	0.93811	0.655000	0.94253	GGT		0.378	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		23	43	0	0	0	1	0	23	43				
CELF5	60680	broad.mit.edu	37	19	3282219	3282219	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3282219C>T	ENST00000292672.2	+	7	883	c.846C>T	c.(844-846)gcC>gcT	p.A282A	CELF5_ENST00000541430.2_Silent_p.A282A	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	282					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						AGATAGGCGCCGTCAGCCTCA	0.647																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(844-846)gcC>gcT		CUGBP, Elav-like family member 5							65.0	55.0	59.0					19																	3282219		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3282219C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.846C>T	19.37:g.3282219C>T						CELF5_ENST00000292672.2_Silent_p.A282A	p.A282A	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			7	882	+			282					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.846C>T	CCDS12106.1																																																																																				0.647	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		22	30	0	0	0	1	0	22	30				
PKD1L2	114780	broad.mit.edu	37	16	81161375	81161375	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81161375C>A	ENST00000534142.1	-	0	728				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTTGACGTGCTTTGGCGATC	0.517																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							52.0	50.0	51.0					16																	81161375		1992	4161	6153			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161375C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161375C>A						PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	6339	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.517	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			3	28	1	0	0.115264	1	0.117355	3	28				
LIN54	132660	broad.mit.edu	37	4	83891528	83891528	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83891528T>C	ENST00000340417.3	-	4	1280	c.903A>G	c.(901-903)acA>acG	p.T301T	LIN54_ENST00000446851.2_Silent_p.T80T|LIN54_ENST00000510557.1_Silent_p.T80T|LIN54_ENST00000505397.1_Silent_p.T301T|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000442461.2_Silent_p.T80T|LIN54_ENST00000395283.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	301					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTGGTGTCTGTGTTGTAGAAT	0.353																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(901-903)acA>acG		lin-54 homolog (C. elegans)							206.0	201.0	203.0					4																	83891528		2203	4300	6503	SO:0001819	synonymous_variant	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83891528T>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.903A>G	4.37:g.83891528T>C						LIN54_ENST00000446851.2_Silent_p.T80T|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000442461.2_Silent_p.T80T|LIN54_ENST00000505397.1_Silent_p.T301T|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000510557.1_Silent_p.T80T	p.T301T	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			4	1280	-		Hepatocellular(203;0.114)	301					Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	37	c.903A>G	CCDS3599.1																																																																																				0.353	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		6	158	0	0	0	1	0	6	158				
CPT2	1376	broad.mit.edu	37	1	53679163	53679163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53679163G>A	ENST00000371486.3	+	5	2388	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	C1orf123_ENST00000470385.1_5'Flank|RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	625					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGGCTGCAATGTCTCTTCCTA	0.517																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1873-1875)Gtc>Atc		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						168.0	146.0	153.0					1																	53679163		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53679163G>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1873G>A	1.37:g.53679163G>A	ENSP00000360541:p.Val625Ile					RP5-1024G6.2_ENST00000452466.1_RNA	p.V625I	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			5	2388	+			625					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.1873G>A	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933800	0.52866	.	.	ENSG00000157184	ENST00000371486	D	0.96587	-4.06	5.9	1.97	0.26223	.	0.120960	0.56097	N	0.000034	D	0.89649	0.6776	N	0.21194	0.64	0.50467	D	0.999872	B	0.02656	0.0	B	0.17433	0.018	T	0.80042	-0.1548	10	0.02654	T	1	-21.146	10.4946	0.44770	0.2602:0.0:0.7398:0.0	.	625	P23786	CPT2_HUMAN	I	625	ENSP00000360541:V625I	ENSP00000360541:V625I	V	+	1	0	CPT2	53451751	1.000000	0.71417	0.877000	0.34402	0.993000	0.82548	4.139000	0.58024	0.411000	0.25702	0.650000	0.86243	GTC		0.517	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		33	56	0	0	0	1	0	33	56				
KIF24	347240	broad.mit.edu	37	9	34256522	34256522	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256522G>C	ENST00000402558.2	-	10	3107	c.3083C>G	c.(3082-3084)gCt>gGt	p.A1028G	KIF24_ENST00000379174.3_Missense_Mutation_p.A894G|KIF24_ENST00000345050.2_Missense_Mutation_p.A894G|KIF24_ENST00000379166.2_Missense_Mutation_p.A1028G			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1028					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCTGGGACAGCATGACCGTT	0.562																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3082-3084)gCt>gGt		kinesin family member 24							147.0	132.0	137.0					9																	34256522		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256522G>C	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3083C>G	9.37:g.34256522G>C	ENSP00000384433:p.Ala1028Gly					KIF24_ENST00000379174.3_Missense_Mutation_p.A894G|KIF24_ENST00000345050.2_Missense_Mutation_p.A894G|KIF24_ENST00000402558.2_Missense_Mutation_p.A1028G	p.A1028G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3202	-			1028					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3083C>G	CCDS6551.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.60|11.60	1.687419|1.687419	0.29962|0.29962	.|.	.|.	ENSG00000186638|ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188|ENST00000443226	T;T;T;T|.	0.71341|.	-0.36;-0.56;-0.36;-0.56|.	5.51|5.51	2.3|2.3	0.28687|0.28687	.|.	1.043650|.	0.07581|.	N|.	0.920339|.	T|T	0.17280|0.17280	0.0415|0.0415	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.20306|0.20306	-1.0279|-1.0279	10|5	0.25106|.	T|.	0.35|.	.|.	6.5729|6.5729	0.22549|0.22549	0.1745:0.0:0.6755:0.15|0.1745:0.0:0.6755:0.15	.|.	1028|.	Q5T7B8|.	KIF24_HUMAN|.	G|W	1028;894;1028;894;1028|73	ENSP00000384433:A1028G;ENSP00000368472:A894G;ENSP00000368464:A1028G;ENSP00000340179:A894G|.	ENSP00000340179:A894G|.	A|C	-|-	2|3	0|2	KIF24|KIF24	34246522|34246522	0.000000|0.000000	0.05858|0.05858	0.107000|0.107000	0.21349|0.21349	0.003000|0.003000	0.03518|0.03518	0.229000|0.229000	0.17833|0.17833	1.346000|1.346000	0.45694|0.45694	0.563000|0.563000	0.77884|0.77884	GCT|TGC		0.562	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			6	94	0	0	0	1	0	6	94				
KCNQ3	3786	broad.mit.edu	37	8	133182641	133182641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133182641C>T	ENST00000388996.4	-	8	1595	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R392K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R272K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	392					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAGGTCAATCCTGTTGGGGTT	0.532																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1174-1176)aGg>aAg		potassium voltage-gated channel, KQT-like subfamily, member 3							79.0	76.0	77.0					8																	133182641		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133182641C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1175G>A	8.37:g.133182641C>T	ENSP00000373648:p.Arg392Lys					KCNQ3_ENST00000519445.1_Missense_Mutation_p.R392K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R272K	p.R392K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		8	1595	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		392					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1175G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467320	0.84533	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99105	-5.43;-5.32;-5.42	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	L	0.45285	1.41	0.51012	D	0.999901	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	D	0.99905	1.1176	10	0.59425	D	0.04	-28.3955	19.3475	0.94370	0.0:1.0:0.0:0.0	.	392;392	E7ET42;O43525	.;KCNQ3_HUMAN	K	392;272;392;381;271	ENSP00000373648:R392K;ENSP00000429799:R272K;ENSP00000428790:R392K	ENSP00000373648:R392K	R	-	2	0	KCNQ3	133251823	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.412000	0.80091	2.816000	0.96949	0.563000	0.77884	AGG		0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		24	40	0	0	0	1	0	24	40				
CD300E	342510	broad.mit.edu	37	17	72613389	72613389	+	Missense_Mutation	SNP	C	C	T	rs144682080	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72613389C>T	ENST00000328630.3	-	2	296	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	CD300E_ENST00000426295.2_Missense_Mutation_p.A127T|CD300E_ENST00000392619.1_Missense_Mutation_p.A113T			Q496F6	CLM2_HUMAN	CD300e molecule	86	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						ACAGTGAAGGCGAGAGCCTCC	0.532													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		20063	0.0		0.0	False		,,,				2504	0.0					ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(337-339)Gcc>Acc		CD300e molecule		C	THR/ALA	13,4393	20.2+/-43.8	0,13,2190	220.0	160.0	180.0		256	-0.6	0.0	17	dbSNP_134	180	0,8600		0,0,4300	yes	missense	CD300E	NM_181449.2	58	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	benign	86/206	72613389	13,12993	2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613389C>T	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.256G>A	17.37:g.72613389C>T	ENSP00000329942:p.Ala86Thr					CD300E_ENST00000426295.2_Missense_Mutation_p.A127T|CD300E_ENST00000328630.3_Missense_Mutation_p.A86T	p.A113T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			2	372	-			86			Ig-like V-type.		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.337G>A	CCDS11702.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.689	-0.795297	0.02862	0.002951	0.0	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.89	-0.571	0.11749	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.272209	0.25472	N	0.030432	T	0.12135	0.0295	N	0.00042	-2.48	0.09310	N	1	B	0.23058	0.079	B	0.12156	0.007	T	0.45789	-0.9237	10	0.02654	T	1	-2.9954	4.7014	0.12828	0.0:0.3156:0.1587:0.5257	.	86	Q496F6	CLM2_HUMAN	T	113;127;86;88	ENSP00000376395:A113T;ENSP00000416642:A127T;ENSP00000329942:A86T;ENSP00000415488:A88T	ENSP00000329942:A86T	A	-	1	0	CD300E	70124984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.424000	0.21330	-0.225000	0.09913	-0.218000	0.12543	GCC		0.532	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		19	53	0	0	0	1	0	19	53				
OR2J3	442186	broad.mit.edu	37	6	29079847	29079847	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079847A>T	ENST00000377169.1	+	1	180	c.180A>T	c.(178-180)acA>acT	p.T60T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATCTGCACACACCAATGTACT	0.453																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(178-180)acA>acT		olfactory receptor, family 2, subfamily J, member 3							280.0	292.0	288.0					6																	29079847		1353	2643	3996	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079847A>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.180A>T	6.37:g.29079847A>T							p.T60T	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	180	+			60					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.180A>T	CCDS43433.1																																																																																				0.453	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			10	233	0	0	0	1	0	10	233				
DHCR24	1718	broad.mit.edu	37	1	55319198	55319198	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319198C>T	ENST00000371269.3	-	8	1404	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	DHCR24_ENST00000535035.1_Missense_Mutation_p.D395N|DHCR24_ENST00000537443.1_Missense_Mutation_p.D220N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	436					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTCCAATGTCGATGTAGAGC	0.582																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1306-1308)Gac>Aac		24-dehydrocholesterol reductase							94.0	92.0	93.0					1																	55319198		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55319198C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1306G>A	1.37:g.55319198C>T	ENSP00000360316:p.Asp436Asn					DHCR24_ENST00000535035.1_Missense_Mutation_p.D395N|DHCR24_ENST00000537443.1_Missense_Mutation_p.D220N	p.D436N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			8	1404	-			436					B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.1306G>A	CCDS600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.521310|4.521310	0.85600|0.85600	.|.	.|.	ENSG00000116133|ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000537443;ENST00000535035|ENST00000436604	T;T;T|.	0.56275|.	0.47;0.47;0.47|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66819|0.66819	0.2828|0.2828	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.62671|0.62671	-0.6805|-0.6805	10|5	0.08381|.	T|.	0.77|.	-39.5498|-39.5498	18.9601|18.9601	0.92674|0.92674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	395;395;436|.	B7Z817;B7ZAV4;Q15392|.	.;.;DHC24_HUMAN|.	N|Q	162;436;220;395|73	ENSP00000360316:D436N;ENSP00000439852:D220N;ENSP00000440191:D395N|.	ENSP00000360316:D436N|.	D|R	-|-	1|2	0|0	DHCR24|DHCR24	55091786|55091786	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.329000|0.329000	0.28539|0.28539	7.769000|7.769000	0.85360|0.85360	2.486000|2.486000	0.83907|0.83907	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.582	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		14	14	0	0	0	1	0	14	14				
HRC	3270	broad.mit.edu	37	19	49657374	49657374	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49657374A>G	ENST00000252825.4	-	1	1307	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	HRC_ENST00000595625.1_Missense_Mutation_p.V374A	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	374					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCCTCATCTACAAGGCCATG	0.542																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1120-1122)gTa>gCa		histidine rich calcium binding protein							148.0	126.0	133.0					19																	49657374		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657374A>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1121T>C	19.37:g.49657374A>G	ENSP00000252825:p.Val374Ala					HRC_ENST00000595625.1_Missense_Mutation_p.V374A	p.V374A	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1307	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	374					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.1121T>C	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.904967	0.00057	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.29397	1.57	3.39	-0.103	0.13609	.	.	.	.	.	T	0.08133	0.0203	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34502	-0.9826	9	0.08599	T	0.76	-7.5462	1.602	0.02676	0.2226:0.443:0.2056:0.1288	.	374	P23327	SRCH_HUMAN	A	374;73;344	ENSP00000252825:V374A	ENSP00000252825:V374A	V	-	2	0	HRC	54349186	0.000000	0.05858	0.274000	0.24659	0.039000	0.13416	-0.631000	0.05496	0.102000	0.17638	-1.601000	0.00813	GTA		0.542	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		25	57	0	0	0	1	0	25	57				
PDZD8	118987	broad.mit.edu	37	10	119043158	119043158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043158G>A	ENST00000334464.5	-	5	3325	c.3086C>T	c.(3085-3087)aCa>aTa	p.T1029I	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1029					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTTTCCTCTGTAGGCAAGCC	0.398																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(3085-3087)aCa>aTa		PDZ domain containing 8							125.0	127.0	126.0					10																	119043158		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043158G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3086C>T	10.37:g.119043158G>A	ENSP00000334642:p.Thr1029Ile						p.T1029I	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3325	-		Colorectal(252;0.19)	1029					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.3086C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940834	0.34283	.	.	ENSG00000165650	ENST00000334464	D	0.86366	-2.11	5.71	3.77	0.43336	.	0.052405	0.85682	D	0.000000	T	0.73760	0.3628	N	0.17082	0.46	0.45806	D	0.998687	B	0.29909	0.261	B	0.20184	0.028	T	0.70241	-0.4926	10	0.23891	T	0.37	-13.0319	11.5651	0.50800	0.0681:0.0:0.8056:0.1264	.	1029	Q8NEN9	PDZD8_HUMAN	I	1029	ENSP00000334642:T1029I	ENSP00000334642:T1029I	T	-	2	0	PDZD8	119033148	1.000000	0.71417	0.813000	0.32504	0.991000	0.79684	6.342000	0.72982	2.697000	0.92050	0.591000	0.81541	ACA		0.398	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		14	169	0	0	0	1	0	14	169				
ZBTB33	10009	broad.mit.edu	37	X	119387918	119387918	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119387918G>T	ENST00000326624.2	+	2	876	c.648G>T	c.(646-648)caG>caT	p.Q216H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.Q216H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	216					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTGGCACAGGTCCAATCTA	0.438																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(646-648)caG>caT		zinc finger and BTB domain containing 33							72.0	63.0	66.0					X																	119387918		2203	4300	6503	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119387918G>T	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.648G>T	X.37:g.119387918G>T	ENSP00000314153:p.Gln216His					ZBTB33_ENST00000557385.1_Missense_Mutation_p.Q216H	p.Q216H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	876	+			216					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.648G>T	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	3.246	-0.154250	0.06585	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.13901	2.55;2.55	5.66	2.46	0.29980	.	0.422695	0.26948	N	0.021685	T	0.15003	0.0362	L	0.56769	1.78	0.38915	D	0.957612	B	0.26258	0.145	B	0.31686	0.134	T	0.05321	-1.0892	10	0.62326	D	0.03	-0.9746	7.6983	0.28608	0.3998:0.0:0.6002:0.0	.	216	Q86T24	KAISO_HUMAN	H	216	ENSP00000314153:Q216H;ENSP00000450969:Q216H	ENSP00000314153:Q216H	Q	+	3	2	ZBTB33;AC002086.1	119271946	0.996000	0.38824	0.989000	0.46669	0.015000	0.08874	0.680000	0.25306	0.656000	0.30886	-0.199000	0.12753	CAG		0.438	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		27	53	1	0	2.49675e-24	1	3.31153e-24	27	53				
RABGEF1	27342	broad.mit.edu	37	7	66248680	66248680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66248680C>T	ENST00000284957.5	+	4	442	c.365C>T	c.(364-366)gCt>gTt	p.A122V	RABGEF1_ENST00000450873.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.A136V|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.A135V|KCTD7_ENST00000380828.2_Missense_Mutation_p.A162V|KCTD7_ENST00000510829.2_Missense_Mutation_p.A122V|KCTD7_ENST00000451741.2_Missense_Mutation_p.A122V			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	300					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GAAGCAAAAGCTCCCAGTCCT	0.388																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(484-486)gCt>gTt		potassium channel tetramerization domain containing 7							46.0	45.0	45.0					7																	66248680		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66248680C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.365C>T	7.37:g.66248680C>T	ENSP00000284957:p.Ala122Val					RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000284957.5_Missense_Mutation_p.A122V|KCTD7_ENST00000510829.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000439720.2_Missense_Mutation_p.A135V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.A136V	p.A162V			Q96MP8	KCTD7_HUMAN			6	639	+			0					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.485C>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	18.12	3.552258	0.65311	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.45668	1.54;0.9;0.9;0.9;0.9;0.89;0.89	5.72	4.84	0.62591	.	0.212671	0.49305	D	0.000150	T	0.21590	0.0520	N	0.04508	-0.205	0.43058	D	0.994671	B	0.26318	0.146	B	0.22386	0.039	T	0.07195	-1.0785	10	0.20519	T	0.43	-19.6189	13.9981	0.64414	0.0:0.9272:0.0:0.0728	.	136	B4DZM7	.	V	167;162;122;122;122;122;135;136	ENSP00000370208:A162V;ENSP00000421124:A122V;ENSP00000398177:A122V;ENSP00000284957:A122V;ENSP00000415815:A122V;ENSP00000403429:A135V;ENSP00000390480:A136V	ENSP00000370207:A167V	A	+	2	0	RABGEF1;KCTD7	65886115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.096000	0.76960	1.413000	0.46997	0.555000	0.69702	GCT		0.388	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		35	24	0	0	0	1	0	35	24				
MORC3	23515	broad.mit.edu	37	21	37710107	37710107	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710107C>A	ENST00000400485.1	+	4	399	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	108					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGTCGGGTTCTATGCGTCTG	0.423																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(322-324)tCt>tAt		MORC family CW-type zinc finger 3							106.0	95.0	99.0					21																	37710107		1853	4103	5956	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37710107C>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.323C>A	21.37:g.37710107C>A	ENSP00000383333:p.Ser108Tyr					MORC3_ENST00000487909.1_3'UTR	p.S108Y	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			4	399	+			108					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.323C>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188969	0.94923	.	.	ENSG00000159256	ENST00000400485	D	0.95724	-3.79	5.21	5.21	0.72293	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96852	0.8972	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97504	1.0062	10	0.87932	D	0	-15.2314	19.1213	0.93365	0.0:1.0:0.0:0.0	.	108	Q14149	MORC3_HUMAN	Y	108	ENSP00000383333:S108Y	ENSP00000383333:S108Y	S	+	2	0	MORC3	36631977	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.663000	0.83820	2.586000	0.87340	0.591000	0.81541	TCT		0.423	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		28	60	1	0	2.12542e-12	1	2.67336e-12	28	60				
RTN4RL1	146760	broad.mit.edu	37	17	1840091	1840091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840091G>A	ENST00000331238.6	-	2	1504	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGGGCCGTGCGGGTGGCCCTT	0.692																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(1024-1026)cCg>cTg		reticulon 4 receptor-like 1							15.0	19.0	18.0					17																	1840091		2025	4152	6177	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840091G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.1025C>T	17.37:g.1840091G>A	ENSP00000330631:p.Pro342Leu						p.P342L	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	1043	-			342						Missense_Mutation	SNP	ENST00000331238.6	37	c.1025C>T	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.463365	0.00171	.	.	ENSG00000185924	ENST00000331238	T	0.63096	-0.02	4.82	2.42	0.29668	.	0.201639	0.24715	N	0.036199	T	0.37404	0.1002	L	0.40543	1.245	0.20926	N	0.999822	P	0.42375	0.778	B	0.25140	0.058	T	0.39272	-0.9622	10	0.06365	T	0.9	.	9.3622	0.38203	0.265:0.0:0.735:0.0	.	342	Q86UN2	R4RL1_HUMAN	L	342	ENSP00000330631:P342L	ENSP00000330631:P342L	P	-	2	0	RTN4RL1	1786841	0.871000	0.30034	0.805000	0.32314	0.024000	0.10985	1.303000	0.33470	1.043000	0.40175	-0.272000	0.10252	CCG		0.692	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		12	10	0	0	0	1	0	12	10				
ZNF791	163049	broad.mit.edu	37	19	12738638	12738638	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738638C>A	ENST00000343325.4	+	4	457	c.295C>A	c.(295-297)Cca>Aca	p.P99T	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.P67T|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CGGAGTAAAACCATATGAGTG	0.453																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(295-297)Cca>Aca		zinc finger protein 791							156.0	148.0	151.0					19																	12738638		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738638C>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.295C>A	19.37:g.12738638C>A	ENSP00000342974:p.Pro99Thr					ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.P67T|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR	p.P99T	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	457	+			99					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.295C>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030437	0.19512	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	T;T	0.16897	2.31;2.31	1.55	-1.38	0.09027	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	L	0.54965	1.715	0.80722	D	1	B	0.17852	0.024	B	0.13407	0.009	T	0.08472	-1.0720	9	0.72032	D	0.01	.	3.5379	0.07800	0.2395:0.5936:0.0:0.1669	.	99	Q3KP31	ZN791_HUMAN	T	99;99;67	ENSP00000342974:P99T;ENSP00000441761:P67T	ENSP00000342974:P99T	P	+	1	0	ZNF791	12599638	0.001000	0.12720	0.008000	0.14137	0.004000	0.04260	0.961000	0.29267	-0.519000	0.06444	-0.424000	0.05967	CCA		0.453	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		46	93	1	0	8.20599e-20	1	1.07503e-19	46	93				
CDC27	996	broad.mit.edu	37	17	45232100	45232100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45232100G>A	ENST00000066544.3	-	8	988	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q238*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGTAGTTTTGTAAATAGGAT	0.388																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(895-897)Caa>Taa		cell division cycle 27							48.0	49.0	48.0					17																	45232100		2203	4300	6503	SO:0001587	stop_gained	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45232100G>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.895C>T	17.37:g.45232100G>A	ENSP00000066544:p.Gln299*					CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q238*	p.Q299*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			8	988	-			299					G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	c.895C>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989403	0.93106	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-1.1217	17.8238	0.88658	0.0:0.0:1.0:0.0	.	.	.	.	X	299;299;238;299;299	.	ENSP00000066544:Q299X	Q	-	1	0	CDC27	42587099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.124000	0.77185	2.810000	0.96702	0.585000	0.79938	CAA		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			11	15	0	0	0	1	0	11	15				
ITIH3	3699	broad.mit.edu	37	3	52842605	52842605	+	Missense_Mutation	SNP	G	G	A	rs376302468		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52842605G>A	ENST00000449956.2	+	22	2587	c.2581G>A	c.(2581-2583)Ggc>Agc	p.G861S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G669S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	861					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCCAGCATCGGCACGAAGGT	0.532																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2581-2583)Ggc>Agc		inter-alpha-trypsin inhibitor heavy chain 3		G	SER/GLY	0,4038		0,0,2019	97.0	96.0	97.0		2581	3.8	0.0	3		97	1,8327		0,1,4163	no	missense	ITIH3	NM_002217.3	56	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	861/891	52842605	1,12365	2019	4164	6183	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52842605G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2581G>A	3.37:g.52842605G>A	ENSP00000415769:p.Gly861Ser					ITIH3_ENST00000416872.2_Missense_Mutation_p.G669S	p.G861S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	22	2587	+			861					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2581G>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981902	0.53827	0.0	1.2E-4	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.26518	1.73;1.73	5.65	3.84	0.44239	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.053987	0.85682	D	0.000000	T	0.51958	0.1705	M	0.87971	2.92	0.41687	D	0.989325	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54603	-0.8269	10	0.72032	D	0.01	-23.2731	8.2314	0.31601	0.0802:0.0:0.764:0.1558	.	669;861	E7ET33;Q06033	.;ITIH3_HUMAN	S	856;669;861	ENSP00000413922:G669S;ENSP00000415769:G861S	ENSP00000273291:G856S	G	+	1	0	ITIH3	52817645	1.000000	0.71417	0.022000	0.16811	0.010000	0.07245	8.389000	0.90172	0.735000	0.32537	-0.136000	0.14681	GGC		0.532	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		3	38	0	0	0	1	0	3	38				
EPAS1	2034	broad.mit.edu	37	2	46603893	46603893	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46603893G>A	ENST00000263734.3	+	9	1759		c.e9+1			NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1						angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGATTTCGGTGGGTGCTTC	0.562																																						ENST00000263734.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e9+1		endothelial PAS domain protein 1							37.0	41.0	39.0					2																	46603893		2203	4300	6503	SO:0001630	splice_region_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46603893G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1249+1G>A	2.37:g.46603893G>A								NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		9	1759	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)						Q86VA2|Q99630	Splice_Site	SNP	ENST00000263734.3	37		CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517421	0.85495	.	.	ENSG00000116016	ENST00000263734	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1396	0.93443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPAS1	46457397	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.950000	0.87804	2.521000	0.84997	0.462000	0.41574	.		0.562	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	Intron	32	51	0	0	0	1	0	32	51				
IWS1	55677	broad.mit.edu	37	2	128262742	128262742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262742C>T	ENST00000295321.4	-	3	996	c.737G>A	c.(736-738)cGt>cAt	p.R246H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Missense_Mutation_p.R253H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	246	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCACTGATACGAGGTTTGGG	0.517																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(736-738)cGt>cAt		IWS1 homolog (S. cerevisiae)							131.0	139.0	136.0					2																	128262742		2203	4299	6502	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262742C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.737G>A	2.37:g.128262742C>T	ENSP00000295321:p.Arg246His					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.R253H	p.R246H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	996	-	Colorectal(110;0.1)		246			3 X approximate tandem repeats.|Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.737G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825524	0.32237	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.32753	1.5;1.44	5.75	1.83	0.25207	.	0.894047	0.09713	N	0.765397	T	0.16041	0.0386	N	0.11756	0.17	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.25117	-1.0141	10	0.38643	T	0.18	-10.1641	5.3831	0.16201	0.0:0.3168:0.2711:0.412	.	246	Q96ST2	IWS1_HUMAN	H	246;199;253;251	ENSP00000295321:R246H;ENSP00000399245:R253H	ENSP00000295321:R246H	R	-	2	0	IWS1	127979212	0.000000	0.05858	0.169000	0.22859	0.902000	0.53008	-1.705000	0.01896	0.358000	0.24211	0.561000	0.74099	CGT		0.517	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		79	101	0	0	0	1	0	79	101				
FBN3	84467	broad.mit.edu	37	19	8191363	8191363	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191363C>T	ENST00000600128.1	-	20	2957	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H	FBN3_ENST00000601739.1_Missense_Mutation_p.R848H|FBN3_ENST00000270509.2_Missense_Mutation_p.R848H			Q75N90	FBN3_HUMAN	fibrillin 3	848	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATCTCGCAGCGTTCGCAGGG	0.647																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2542-2544)cGc>cAc		fibrillin 3							20.0	23.0	22.0					19																	8191363		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191363C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2543G>A	19.37:g.8191363C>T	ENSP00000470498:p.Arg848His					FBN3_ENST00000270509.2_Missense_Mutation_p.R848H|FBN3_ENST00000601739.1_Missense_Mutation_p.R848H	p.R848H			Q75N90	FBN3_HUMAN			20	2957	-			848			TB 4.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2543G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.33	2.502978	0.44558	.	.	ENSG00000142449	ENST00000270509	D	0.92647	-3.08	3.62	-1.64	0.08318	Matrix fibril-associated (3);TGF-beta binding (1);	0.281001	0.34411	U	0.003982	D	0.85831	0.5788	L	0.53249	1.67	0.38199	D	0.940138	B	0.15141	0.012	B	0.13407	0.009	T	0.73649	-0.3916	10	0.44086	T	0.13	.	5.025	0.14379	0.1497:0.6187:0.1284:0.1032	.	848	Q75N90	FBN3_HUMAN	H	848	ENSP00000270509:R848H	ENSP00000270509:R848H	R	-	2	0	FBN3	8097363	0.032000	0.19561	0.289000	0.24876	0.544000	0.35116	-0.988000	0.03739	-0.020000	0.14032	0.305000	0.20034	CGC		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	12	0	0	0	1	0	5	12				
VCX3B	425054	broad.mit.edu	37	X	8433557	8433557	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:8433557C>A	ENST00000381032.1	+	2	373	c.66C>A	c.(64-66)tcC>tcA	p.S22S	VCX3B_ENST00000444481.1_Silent_p.S22S|VCX3B_ENST00000381029.4_Silent_p.S22S|VCX3B_ENST00000440654.2_Silent_p.S22S|VCX3B_ENST00000453306.1_Silent_p.S22S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	22						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAGGAAGTCCTCCTCTCAGC	0.607																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(64-66)tcC>tcA		variable charge, X-linked 3B							74.0	42.0	54.0					X																	8433557		1373	2303	3676	SO:0001819	synonymous_variant	0					nucleolus		g.chrX:8433557C>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.66C>A	X.37:g.8433557C>A						VCX3B_ENST00000444481.1_Silent_p.S22S|VCX3B_ENST00000381029.4_Silent_p.S22S|VCX3B_ENST00000440654.2_Silent_p.S22S|VCX3B_ENST00000453306.1_Silent_p.S22S	p.S22S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			2	373	+			22					C9JS46|Q4KN12	Silent	SNP	ENST00000381032.1	37	c.66C>A	CCDS48077.2																																																																																				0.607	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			14	118	1	0	9.16793e-09	1	1.10245e-08	14	118				
DECR2	26063	broad.mit.edu	37	16	461021	461021	+	Silent	SNP	C	C	T	rs374085698		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:461021C>T	ENST00000219481.5	+	7	744	c.606C>T	c.(604-606)cgC>cgT	p.R202R	DECR2_ENST00000424398.2_Silent_p.R190R|DECR2_ENST00000461947.1_3'UTR	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	202					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AAAACATCCGCGTCAACAGCC	0.642																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(604-606)cgC>cgT		2,4-dienoyl CoA reductase 2, peroxisomal		C		0,4382		0,0,2191	33.0	31.0	32.0		606	-11.0	0.5	16		32	1,8591		0,1,4295	no	coding-synonymous	DECR2	NM_020664.3		0,1,6486	TT,TC,CC		0.0116,0.0,0.0077		202/293	461021	1,12973	2191	4296	6487	SO:0001819	synonymous_variant	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:461021C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.606C>T	16.37:g.461021C>T						DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Silent_p.R190R	p.R202R	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			7	744	+		Hepatocellular(16;0.00015)	202					Q6ZRS7|Q96ET0	Silent	SNP	ENST00000219481.5	37	c.606C>T	CCDS10409.1																																																																																				0.642	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		3	5	0	0	0	1	0	3	5				
MYH7B	57644	broad.mit.edu	37	20	33586624	33586624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33586624C>T	ENST00000262873.7	+	33	4314	c.4222C>T	c.(4222-4224)Cgg>Tgg	p.R1408W		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1366						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAGCTGCAGCGGCTGCTGTC	0.657																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4222-4224)Cgg>Tgg		myosin, heavy chain 7B, cardiac muscle, beta							23.0	28.0	26.0					20																	33586624		2202	4299	6501	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586624C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4222C>T	20.37:g.33586624C>T	ENSP00000262873:p.Arg1408Trp						p.R1408W	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		33	4314	+			1366					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.4222C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493249	0.44352	.	.	ENSG00000078814	ENST00000262873	D	0.82167	-1.58	4.59	3.64	0.41730	Myosin tail (1);	0.000000	0.34777	N	0.003693	D	0.93203	0.7835	H	0.96175	3.78	0.44562	D	0.997527	D	0.89917	1.0	D	0.97110	1.0	D	0.94206	0.7454	10	0.87932	D	0	.	11.8565	0.52439	0.431:0.569:0.0:0.0	.	1366	A7E2Y1	MYH7B_HUMAN	W	1408	ENSP00000262873:R1408W	ENSP00000262873:R1408W	R	+	1	2	MYH7B	33050285	0.991000	0.36638	1.000000	0.80357	0.959000	0.62525	0.333000	0.19768	1.150000	0.42419	0.561000	0.74099	CGG		0.657	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		3	9	0	0	0	1	0	3	9				
ZNF324B	388569	broad.mit.edu	37	19	58965153	58965153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58965153G>A	ENST00000336614.4	+	2	192	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	ZNF324B_ENST00000545523.1_Missense_Mutation_p.V29M|ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Missense_Mutation_p.V29M	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTACCGCCACGTGATGCTGGA	0.562																																						ENST00000336614.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(85-87)Gtg>Atg		zinc finger protein 324B							120.0	87.0	98.0					19																	58965153		2203	4300	6503	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58965153G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.85G>A	19.37:g.58965153G>A	ENSP00000337473:p.Val29Met					ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Missense_Mutation_p.V29M|ZNF324B_ENST00000545523.1_Missense_Mutation_p.V29M	p.V29M	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	2	192	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	29			KRAB.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.85G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205693	0.58234	.	.	ENSG00000249471	ENST00000336614;ENST00000545523	T;T	0.04015	3.73;3.73	2.99	2.99	0.34606	Krueppel-associated box (4);	0.240057	0.21633	N	0.071441	T	0.26882	0.0658	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16100	-1.0414	10	0.49607	T	0.09	.	11.4228	0.49991	0.0:0.0:1.0:0.0	.	29	Q6AW86	Z324B_HUMAN	M	29	ENSP00000337473:V29M;ENSP00000438930:V29M	ENSP00000337473:V29M	V	+	1	0	ZNF324B	63656965	0.975000	0.34042	0.772000	0.31596	0.867000	0.49689	1.738000	0.38207	1.486000	0.48398	0.467000	0.42956	GTG		0.562	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		15	29	0	0	0	1	0	15	29				
NOTCH4	4855	broad.mit.edu	37	6	32170036	32170036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32170036C>T	ENST00000375023.3	-	21	3710	c.3572G>A	c.(3571-3573)tGc>tAc	p.C1191Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1191					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGGCCACTGCAGCCAGCATC	0.662																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3571-3573)tGc>tAc		notch 4							34.0	38.0	36.0					6																	32170036		1509	2708	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32170036C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3572G>A	6.37:g.32170036C>T	ENSP00000364163:p.Cys1191Tyr						p.C1191Y	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			21	3710	-			1191					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3572G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057964	0.76074	.	.	ENSG00000204301	ENST00000375023	D	0.99239	-5.61	4.77	4.77	0.60923	Notch domain (4);	0.000000	0.49916	D	0.000140	D	0.98798	0.9595	M	0.87328	2.875	0.80722	D	1	B	0.26577	0.153	B	0.37304	0.246	D	0.99953	1.1581	10	0.87932	D	0	.	15.3209	0.74120	0.0:1.0:0.0:0.0	.	1191	Q99466	NOTC4_HUMAN	Y	1191	ENSP00000364163:C1191Y	ENSP00000364163:C1191Y	C	-	2	0	NOTCH4	32278014	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.214000	0.77958	2.481000	0.83766	0.561000	0.74099	TGC		0.662	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			13	20	0	0	0	1	0	13	20				
DDI1	414301	broad.mit.edu	37	11	103907867	103907867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103907867G>A	ENST00000302259.3	+	1	560	c.317G>A	c.(316-318)aGc>aAc	p.S106N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	106							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGGACGTCCAGCTCCCGTCCA	0.652																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(316-318)aGc>aAc		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							98.0	98.0	98.0					11																	103907867		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907867G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.317G>A	11.37:g.103907867G>A	ENSP00000302805:p.Ser106Asn					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.S106N	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	560	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	106					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.317G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410999	0.42817	.	.	ENSG00000170967	ENST00000302259	T	0.23552	1.9	5.02	1.0	0.19881	.	0.569887	0.20291	N	0.095230	T	0.18509	0.0444	L	0.52905	1.665	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.28332	-1.0047	10	0.13470	T	0.59	-27.5734	5.7983	0.18399	0.253:0.1455:0.6015:0.0	.	106	Q8WTU0	DDI1_HUMAN	N	106	ENSP00000302805:S106N	ENSP00000302805:S106N	S	+	2	0	DDI1	103413077	0.015000	0.18098	0.043000	0.18650	0.557000	0.35523	0.533000	0.23082	0.375000	0.24679	0.655000	0.94253	AGC		0.652	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		10	97	0	0	0	1	0	10	97				
BAZ2B	29994	broad.mit.edu	37	2	160205779	160205779	+	Missense_Mutation	SNP	C	C	A	rs34745357	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160205779C>A	ENST00000392783.2	-	29	5371	c.4876G>T	c.(4876-4878)Gta>Tta	p.V1626L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.V1590L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V1592L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V1526L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1626					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATCATAGATACTCCACCTTTC	0.343																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(4876-4878)Gta>Tta		bromodomain adjacent to zinc finger domain, 2B							72.0	68.0	69.0					2																	160205779		1829	4082	5911	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160205779C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4876G>T	2.37:g.160205779C>A	ENSP00000376534:p.Val1626Leu					BAZ2B_ENST00000392782.1_Missense_Mutation_p.V1590L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V1526L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V1592L	p.V1626L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			29	5371	-			1626					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4876G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	8.676	0.903971	0.17760	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.57107	0.5;0.51;0.5;0.42	5.47	3.4	0.38934	.	0.281262	0.18868	U	0.128949	T	0.25457	0.0619	N	0.08118	0	0.27752	N	0.94413	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.12167	-1.0558	10	0.15066	T	0.55	-7.2292	5.0507	0.14507	0.2094:0.5891:0.1203:0.0812	.	1590;1626	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	L	1590;1626;1592;1526	ENSP00000376533:V1590L;ENSP00000376534:V1626L;ENSP00000348087:V1592L;ENSP00000339670:V1526L	ENSP00000339670:V1526L	V	-	1	0	BAZ2B	159914025	0.992000	0.36948	0.997000	0.53966	0.954000	0.61252	1.549000	0.36212	1.450000	0.47717	0.591000	0.81541	GTA		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			4	65	1	0	0.150653	1	0.152692	4	65				
CSTF3	1479	broad.mit.edu	37	11	33118430	33118430	+	Missense_Mutation	SNP	C	C	T	rs11553357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33118430C>T	ENST00000323959.4	-	14	1362	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	408					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GACATGGTGGCGGGTTCTGGT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18115	0.0		0.001	False		,,,				2504	0.0					ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1222-1224)cGc>cAc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa		C	HIS/ARG	0,4404		0,0,2202	156.0	145.0	149.0		1223	4.8	1.0	11	dbSNP_120	149	1,8595	1.2+/-3.3	0,1,4297	no	missense	CSTF3	NM_001326.2	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	408/718	33118430	1,12999	2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33118430C>T	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1223G>A	11.37:g.33118430C>T	ENSP00000315791:p.Arg408His					TCP11L1_ENST00000324357.9_Intron	p.R408H	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			14	1362	-			408					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1223G>A	CCDS7883.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.5	4.739966	0.89573	0.0	1.16E-4	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.35421	1.31	5.68	4.77	0.60923	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.61703	1.905	0.80722	D	1	D	0.63046	0.992	P	0.51974	0.686	T	0.49031	-0.8981	10	0.48119	T	0.1	.	14.636	0.68689	0.0:0.9299:0.0:0.0701	rs11553357;rs11553357	408	Q12996	CSTF3_HUMAN	H	408;341	ENSP00000315791:R408H	ENSP00000315791:R408H	R	-	2	0	CSTF3	33075006	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.899000	0.69846	1.411000	0.46957	0.305000	0.20034	CGC		0.363	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		33	77	0	0	0	1	0	33	77				
KRT75	9119	broad.mit.edu	37	12	52818536	52818536	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52818536A>G	ENST00000252245.5	-	9	1641	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	474	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGAGGTGACCACAGCTGCCGG	0.617																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1420-1422)gTg>gCg		keratin 75							54.0	55.0	55.0					12																	52818536		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52818536A>G	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1421T>C	12.37:g.52818536A>G	ENSP00000252245:p.Val474Ala					RP11-1020M18.10_ENST00000548135.1_RNA	p.V474A	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	9	1641	-			474			Tail.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1421T>C	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869993	0.33069	.	.	ENSG00000170454	ENST00000252245	D	0.85861	-2.04	4.88	4.88	0.63580	.	0.000000	0.38897	N	0.001533	D	0.87509	0.6195	M	0.87682	2.9	0.40101	D	0.976371	P	0.35272	0.493	B	0.39531	0.302	D	0.89195	0.3553	10	0.87932	D	0	.	10.7843	0.46397	1.0:0.0:0.0:0.0	.	474	O95678	K2C75_HUMAN	A	474	ENSP00000252245:V474A	ENSP00000252245:V474A	V	-	2	0	KRT75	51104803	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	2.772000	0.47678	2.042000	0.60477	0.482000	0.46254	GTG		0.617	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		20	30	0	0	0	1	0	20	30				
KIF5A	3798	broad.mit.edu	37	12	57969503	57969503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57969503C>T	ENST00000455537.2	+	17	2260	c.1986C>T	c.(1984-1986)gaC>gaT	p.D662D	KIF5A_ENST00000286452.5_Silent_p.D573D	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	662					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGTCCTATGACTCCTTGAGCG	0.532																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1984-1986)gaC>gaT		kinesin family member 5A							162.0	156.0	158.0					12																	57969503		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57969503C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1986C>T	12.37:g.57969503C>T						KIF5A_ENST00000286452.5_Silent_p.D573D	p.D662D	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			17	2260	+			662					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.1986C>T	CCDS8945.1																																																																																				0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		70	132	0	0	0	1	0	70	132				
JAK1	3716	broad.mit.edu	37	1	65305303	65305303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65305303C>A	ENST00000342505.4	-	20	3073	c.2825G>T	c.(2824-2826)gGa>gTa	p.G942V	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	942	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGTGCAGATTCCTTTGTACTT	0.453			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2824-2826)gGa>gTa		Janus kinase 1							248.0	222.0	230.0					1																	65305303		1919	4150	6069	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65305303C>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2825G>T	1.37:g.65305303C>A	ENSP00000343204:p.Gly942Val						p.G942V	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	20	3073	-			942			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2825G>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574292	0.86542	.	.	ENSG00000162434	ENST00000342505	D	0.89123	-2.47	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.95771	0.8624	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96246	0.9179	9	0.87932	D	0	-5.3503	19.0108	0.92872	0.0:1.0:0.0:0.0	.	942	P23458	JAK1_HUMAN	V	942	ENSP00000343204:G942V	ENSP00000343204:G942V	G	-	2	0	JAK1	65077891	1.000000	0.71417	0.974000	0.42286	0.953000	0.61014	7.273000	0.78527	2.713000	0.92767	0.655000	0.94253	GGA		0.453	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		6	142	1	0	3.59834e-05	1	4.01776e-05	6	142				
ING4	51147	broad.mit.edu	37	12	6761527	6761527	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6761527C>T	ENST00000396807.4	-	6	596	c.558G>A	c.(556-558)gtG>gtA	p.V186V	ING4_ENST00000446105.2_Silent_p.V182V|ING4_ENST00000412586.2_Silent_p.V183V|ING4_ENST00000341550.4_Silent_p.V185V|ING4_ENST00000444704.2_Silent_p.V162V|ING4_ENST00000486287.1_Intron|ING4_ENST00000423703.2_Intron	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	186					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GCATATCCAACACATCAGAGG	0.507																																						ENST00000341550.4																			0				central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(553-555)gtG>gtA		inhibitor of growth family, member 4							199.0	170.0	180.0					12																	6761527		2203	4300	6503	SO:0001819	synonymous_variant	51147				apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding	g.chr12:6761527C>T	AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.558G>A	12.37:g.6761527C>T						ING4_ENST00000396807.4_Silent_p.V186V|ING4_ENST00000446105.2_Silent_p.V182V|ING4_ENST00000444704.2_Silent_p.V162V|ING4_ENST00000423703.2_Intron|ING4_ENST00000412586.2_Silent_p.V183V|ING4_ENST00000486287.1_Intron	p.V185V			Q9UNL4	ING4_HUMAN			6	601	-			186					A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Silent	SNP	ENST00000396807.4	37	c.555G>A	CCDS44813.1																																																																																				0.507	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		5	88	0	0	0	1	0	5	88				
HERPUD1	9709	broad.mit.edu	37	16	56969209	56969209	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56969209G>T	ENST00000439977.2	+	2	407	c.210G>T	c.(208-210)agG>agT	p.R70S	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Missense_Mutation_p.R70S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R70S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.R70S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	70	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AATGTCTCAGGGACTTGCTTC	0.413			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(208-210)agG>agT		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							149.0	132.0	138.0					16																	56969209		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56969209G>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.210G>T	16.37:g.56969209G>T	ENSP00000409555:p.Arg70Ser					HERPUD1_ENST00000379792.2_Missense_Mutation_p.R70S|HERPUD1_ENST00000344114.4_Missense_Mutation_p.R70S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R70S|HERPUD1_ENST00000570273.1_3'UTR	p.R70S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			2	407	+			70			Ubiquitin-like.		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.210G>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768950	0.49680	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.94	3.65	0.41850	Ubiquitin supergroup (1);Ubiquitin (2);	0.576196	0.20540	N	0.090334	T	0.34308	0.0893	N	0.10618	0.005	0.46028	D	0.998829	P;P;B;B;B;B	0.43231	0.801;0.493;0.336;0.109;0.034;0.053	B;B;B;B;B;B	0.31946	0.138;0.085;0.129;0.122;0.036;0.082	T	0.45396	-0.9264	10	0.06757	T	0.87	-17.6208	2.2264	0.03985	0.2196:0.1443:0.4881:0.1481	.	70;70;70;70;70;70	B4E3N8;Q15011-3;A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;.;.;HERP1_HUMAN	S	70	ENSP00000409555:R70S;ENSP00000369118:R70S;ENSP00000300302:R70S;ENSP00000340931:R70S	ENSP00000300302:R70S	R	+	3	2	HERPUD1	55526710	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.870000	0.28010	1.491000	0.48482	0.561000	0.74099	AGG		0.413	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			8	77	1	0	1.06961e-07	1	1.26574e-07	8	77				
CD300A	11314	broad.mit.edu	37	17	72470740	72470740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72470740C>A	ENST00000360141.3	+	3	737	c.449C>A	c.(448-450)cCt>cAt	p.P150H	CD300A_ENST00000310828.5_Missense_Mutation_p.P37H|CD300A_ENST00000577511.1_Missense_Mutation_p.P20H|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Missense_Mutation_p.P37H	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	150					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCATTTCCACCTGTATCATCC	0.537																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(448-450)cCt>cAt		CD300a molecule							219.0	159.0	179.0					17																	72470740		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72470740C>A	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.449C>A	17.37:g.72470740C>A	ENSP00000353259:p.Pro150His					CD300A_ENST00000392625.3_Missense_Mutation_p.P37H|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Missense_Mutation_p.P20H|CD300A_ENST00000310828.5_Missense_Mutation_p.P37H	p.P150H	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN			3	737	+			150					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.449C>A	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147524	0.37923	.	.	ENSG00000167851	ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.54675	4.09;0.56	2.79	2.79	0.32731	.	1.545570	0.04111	N	0.314628	T	0.54095	0.1837	L	0.39898	1.24	0.09310	N	1	D;D;D	0.56521	0.972;0.972;0.976	P;P;P	0.49047	0.599;0.599;0.549	T	0.49634	-0.8919	10	0.66056	D	0.02	.	9.2465	0.37529	0.0:1.0:0.0:0.0	.	37;37;150	Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;CLM8_HUMAN	H	150;37;37	ENSP00000353259:P150H;ENSP00000308188:P37H	ENSP00000308188:P37H	P	+	2	0	CD300A	69982335	0.014000	0.17966	0.002000	0.10522	0.002000	0.02628	1.291000	0.33330	1.853000	0.53794	0.561000	0.74099	CCT		0.537	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		6	50	1	0	0.00116845	1	0.00124821	6	50				
OTOGL	283310	broad.mit.edu	37	12	80707353	80707353	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80707353A>G	ENST00000547103.1	+	30	3527	c.3521A>G	c.(3520-3522)tAt>tGt	p.Y1174C	OTOGL_ENST00000458043.2_Missense_Mutation_p.Y1174C			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1174					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATAGCTGCATATGCATACAAG	0.373																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(3520-3522)tAt>tGt		otogelin-like							183.0	194.0	191.0					12																	80707353		2181	4285	6466	SO:0001583	missense	283310							g.chr12:80707353A>G	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3521A>G	12.37:g.80707353A>G	ENSP00000447211:p.Tyr1174Cys					OTOGL_ENST00000547103.1_Missense_Mutation_p.Y1174C	p.Y1174C	NM_173591.3	NP_775862.3					30	3527	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.3521A>G		.	.	.	.	.	.	.	.	.	.	A	18.79	3.699306	0.68501	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.85955	-2.05;-2.05	5.61	5.61	0.85477	.	.	.	.	.	D	0.94915	0.8356	H	0.96398	3.815	0.80722	D	1	.	.	.	.	.	.	D	0.96458	0.9339	7	0.87932	D	0	.	15.7908	0.78364	1.0:0.0:0.0:0.0	.	.	.	.	C	1174	ENSP00000447211:Y1174C;ENSP00000400895:Y1174C	ENSP00000400895:Y1174C	Y	+	2	0	OTOGL	79231484	1.000000	0.71417	0.938000	0.37757	0.638000	0.38207	8.830000	0.92063	2.124000	0.65301	0.528000	0.53228	TAT		0.373	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		6	63	0	0	0	1	0	6	63				
TTN	7273	broad.mit.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179476842G>A	ENST00000591111.1	-	217	45597	c.45373C>T	c.(45373-45375)Cga>Tga	p.R15125*	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R16766*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*			Q8WZ42	TITIN_HUMAN	titin	15125	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACATGTCGTTTTGTCACA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50296-50298)Cga>Tga		titin							106.0	94.0	98.0					2																	179476842		1874	4098	5972	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476842G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45373C>T	2.37:g.179476842G>A	ENSP00000465570:p.Arg15125*					TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R15125*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.R16766*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		267	50520	-			15125			Ig-like 101.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.50296C>T		.	.	.	.	.	.	.	.	.	.	G	59	37.731312	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	0.537	0.17144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6047	0.45388	0.0:0.1944:0.2015:0.604	.	.	.	.	X	14198;7701;7893;7826;7701	.	ENSP00000340554:R7893X	R	-	1	2	TTN	179185087	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.702000	0.37836	0.136000	0.18733	0.655000	0.94253	CGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	10	0	0	0	1	0	8	10				
COL6A6	131873	broad.mit.edu	37	3	130285612	130285612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130285612C>T	ENST00000358511.6	+	4	1380	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T450I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	450	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCCAGGCCACAGATTTCCAT	0.493																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1348-1350)aCa>aTa		collagen, type VI, alpha 6							75.0	76.0	76.0					3																	130285612		1949	4138	6087	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285612C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1349C>T	3.37:g.130285612C>T	ENSP00000351310:p.Thr450Ile					COL6A6_ENST00000453409.2_Missense_Mutation_p.T450I	p.T450I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1380	+			450			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1349C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017730	0.54576	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78707	-1.2;-1.2	5.24	5.24	0.73138	von Willebrand factor, type A (3);	0.197525	0.36200	N	0.002738	T	0.77377	0.4121	L	0.38175	1.15	0.09310	N	1	D	0.56521	0.976	P	0.53988	0.739	T	0.70182	-0.4942	10	0.40728	T	0.16	.	13.4114	0.60944	0.1572:0.8428:0.0:0.0	.	450	A6NMZ7	CO6A6_HUMAN	I	450	ENSP00000351310:T450I;ENSP00000399236:T450I	ENSP00000351310:T450I	T	+	2	0	COL6A6	131768302	0.000000	0.05858	0.995000	0.50966	0.981000	0.71138	0.245000	0.18142	2.448000	0.82819	0.561000	0.74099	ACA		0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		12	51	0	0	0	1	0	12	51				
ZW10	9183	broad.mit.edu	37	11	113607481	113607481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113607481G>A	ENST00000200135.3	-	15	2224	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	694					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATACTTGGGGTCCTTCATCC	0.373																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(2080-2082)Ccc>Tcc		zw10 kinetochore protein							264.0	244.0	250.0					11																	113607481		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113607481G>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2080C>T	11.37:g.113607481G>A	ENSP00000200135:p.Pro694Ser						p.P694S	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	15	2224	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	694					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.2080C>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973168	0.92919	.	.	ENSG00000086827	ENST00000200135	T	0.44881	0.91	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.75777	2.31	0.80722	D	1	P	0.36330	0.548	B	0.35550	0.205	T	0.41752	-0.9491	10	0.12103	T	0.63	-11.5864	20.5568	0.99304	0.0:0.0:1.0:0.0	.	694	O43264	ZW10_HUMAN	S	694	ENSP00000200135:P694S	ENSP00000200135:P694S	P	-	1	0	ZW10	113112691	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.581000	0.82535	2.861000	0.98227	0.655000	0.94253	CCC		0.373	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		57	123	0	0	0	1	0	57	123				
XIRP2	129446	broad.mit.edu	37	2	168102966	168102966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168102966C>T	ENST00000409195.1	+	9	5153	c.5064C>T	c.(5062-5064)aaC>aaT	p.N1688N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.N1688N|XIRP2_ENST00000409273.1_Silent_p.N1466N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1513					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.N1688K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGATATTAACATGACTATCT	0.338																																						ENST00000409195.1																			1	Substitution - Missense(1)	p.N1688K(1)	lung(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5062-5064)aaC>aaT		xin actin-binding repeat containing 2							115.0	109.0	111.0					2																	168102966		1863	4093	5956	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102966C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5064C>T	2.37:g.168102966C>T						XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.N1466N|XIRP2_ENST00000295237.9_Silent_p.N1688N|XIRP2_ENST00000420519.1_Intron	p.N1688N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5153	+			1513					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.5064C>T	CCDS42769.1																																																																																				0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	71	0	0	0	1	0	6	71				
ATP2B2	491	broad.mit.edu	37	3	10413736	10413736	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10413736C>A	ENST00000352432.4	-	11	1486		c.e11-1		ATP2B2_ENST00000397077.1_Splice_Site|ATP2B2_ENST00000360273.2_Splice_Site|ATP2B2_ENST00000383800.4_Splice_Site|ATP2B2_ENST00000343816.4_Splice_Site			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCATCATTTTCTGGGAGAAGG	0.572																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.e11-1		ATPase, Ca++ transporting, plasma membrane 2							100.0	89.0	93.0					3																	10413736		2203	4300	6503	SO:0001630	splice_region_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413736C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1417-1G>T	3.37:g.10413736C>A						ATP2B2_ENST00000383800.4_Splice_Site|ATP2B2_ENST00000360273.2_Splice_Site|ATP2B2_ENST00000343816.4_Splice_Site|ATP2B2_ENST00000352432.4_Splice_Site				Q01814	AT2B2_HUMAN			11	1857	-								O00766|Q12994|Q16818	Splice_Site	SNP	ENST00000352432.4	37		CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445206	0.83993	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8685	0.88803	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP2B2	10388736	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.568000	0.82369	2.443000	0.82685	0.655000	0.94253	.		0.572	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	Intron	4	65	1	0	0.014758	1	0.0152625	4	65				
ZNF547	284306	broad.mit.edu	37	19	57888885	57888885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888885G>T	ENST00000282282.3	+	4	691	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACTGGAGAAAGAACTTA	0.428																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(541-543)Gaa>Taa		zinc finger protein 547							70.0	70.0	70.0					19																	57888885		2203	4300	6503	SO:0001587	stop_gained	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57888885G>T	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.541G>T	19.37:g.57888885G>T	ENSP00000282282:p.Glu181*					AC003002.4_ENST00000597658.1_Intron	p.E181*	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	691	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	181					A8K5Z9|Q96NC4	Nonsense_Mutation	SNP	ENST00000282282.3	37	c.541G>T	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268083	0.80469	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	.	.	.	1.87	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	6.7785	0.23632	0.1187:0.35:0.5314:0.0	.	.	.	.	X	181	.	ENSP00000282282:E181X	E	+	1	0	ZNF547	62580697	0.000000	0.05858	0.000000	0.03702	0.511000	0.34104	0.179000	0.16840	-0.487000	0.06735	0.491000	0.48974	GAA		0.428	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		18	33	1	0	3.32936e-07	1	3.90007e-07	18	33				
FLCN	201163	broad.mit.edu	37	17	17124701	17124701	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17124701A>G	ENST00000285071.4	-	8	1326				RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.S341P	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin						cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						aatcacaCCGAGATCGGAGGG	0.547									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000389169.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1021-1023)Tcg>Ccg		folliculin							65.0	68.0	67.0					17																	17124701		2202	4300	6502	SO:0001627	intron_variant	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17124701A>G	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.871+149T>C	17.37:g.17124701A>G						RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000285071.4_Intron	p.S341P	NM_144606.5	NP_653207.1	Q8NFG4	FLCN_HUMAN			8	1475	-			0					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.1021T>C	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783611	0.49891	.	.	ENSG00000154803	ENST00000389169	D	0.92647	-3.08	4.5	-0.26	0.12967	.	.	.	.	.	D	0.86406	0.5925	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75744	-0.3210	8	0.87932	D	0	.	7.2522	0.26156	0.5833:0.0:0.4167:0.0	.	341	Q8NFG4-2	.	P	341	ENSP00000373821:S341P	ENSP00000373821:S341P	S	-	1	0	FLCN	17065426	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	1.055000	0.30467	-0.175000	0.10725	0.533000	0.62120	TCG		0.547	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		3	10	0	0	0	1	0	3	10				
GDPD2	54857	broad.mit.edu	37	X	69646847	69646847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69646847C>T	ENST00000374382.3	+	8	939	c.688C>T	c.(688-690)Cga>Tga	p.R230*	GDPD2_ENST00000538649.1_Nonsense_Mutation_p.R151*|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.R151*|GDPD2_ENST00000453994.2_Nonsense_Mutation_p.R230*	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	230	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGTGGGACACCGAGGGGCCCC	0.612																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(688-690)Cga>Tga		glycerophosphodiester phosphodiesterase domain containing 2							52.0	46.0	48.0					X																	69646847		2203	4300	6503	SO:0001587	stop_gained	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69646847C>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.688C>T	X.37:g.69646847C>T	ENSP00000363503:p.Arg230*					GDPD2_ENST00000538649.1_Nonsense_Mutation_p.R151*|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Nonsense_Mutation_p.R230*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.R151*	p.R230*	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			8	1049	+	Renal(35;0.156)		230			GDPD.		B4DRH4|B4DVC9|Q9NXJ6	Nonsense_Mutation	SNP	ENST00000374382.3	37	c.688C>T	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	42	9.624834	0.99223	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	.	.	.	5.63	4.76	0.60689	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9021	11.685	0.51481	0.0:0.9121:0.0:0.0879	.	.	.	.	X	230;151;151;230	.	.	R	+	1	2	GDPD2	69563572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.596000	0.36718	2.351000	0.79841	0.600000	0.82982	CGA		0.612	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		18	23	0	0	0	1	0	18	23				
EHMT1	79813	broad.mit.edu	37	9	140712546	140712546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140712546G>A	ENST00000460843.1	+	25	3523	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1166	Interaction with histone H3.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAAGCCGACGTTCGAGA	0.527																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3496-3498)Gac>Aac		euchromatic histone-lysine N-methyltransferase 1							163.0	147.0	152.0					9																	140712546		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140712546G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3496G>A	9.37:g.140712546G>A	ENSP00000417980:p.Asp1166Asn						p.D1166N	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	25	3523	+	all_cancers(76;0.164)		1166			Interaction with histone H3.|SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.3496G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701833	0.30232	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.82344	-1.6	5.26	5.26	0.73747	SET domain (3);	0.142736	0.64402	D	0.000007	T	0.77758	0.4178	L	0.45352	1.415	0.80722	D	1	B	0.31209	0.313	B	0.32864	0.154	T	0.75502	-0.3295	10	0.38643	T	0.18	.	13.2183	0.59873	0.0777:0.0:0.9223:0.0	.	1166	Q9H9B1	EHMT1_HUMAN	N	1135;1166	ENSP00000417980:D1166N	ENSP00000360453:D1135N	D	+	1	0	EHMT1	139832367	1.000000	0.71417	0.347000	0.25668	0.105000	0.19272	4.814000	0.62627	2.631000	0.89168	0.462000	0.41574	GAC		0.527	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		30	48	0	0	0	1	0	30	48				
SEPT9	10801	broad.mit.edu	37	17	75398611	75398611	+	Missense_Mutation	SNP	G	G	A	rs372396458		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75398611G>A	ENST00000427177.1	+	3	673	c.547G>A	c.(547-549)Gca>Aca	p.A183T	SEPT9_ENST00000431235.2_Missense_Mutation_p.A19T|SEPT9_ENST00000590294.1_Missense_Mutation_p.A165T|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.A164T|SEPT9_ENST00000588690.1_Missense_Mutation_p.A19T|SEPT9_ENST00000449803.2_Missense_Mutation_p.A19T|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000427674.2_Missense_Mutation_p.A19T|SEPT9_ENST00000423034.2_Missense_Mutation_p.A176T|SEPT9_ENST00000329047.8_Missense_Mutation_p.A165T	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	183					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGCCACCGACGCAGCCCCCAA	0.677																																						ENST00000329047.8																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(493-495)Gca>Aca		septin 9		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4330		0,0,2165	11.0	17.0	15.0		493,55,526,55,547	3.2	0.6	17		15	1,8517		0,1,4258	no	missense,missense,missense,missense,missense	SEPT9	NM_006640.4,NM_001113494.1,NM_001113493.1,NM_001113492.1,NM_001113491.1	58,58,58,58,58	0,1,6423	AA,AG,GG		0.0117,0.0,0.0078	benign,benign,benign,benign,benign	165/569,19/423,176/580,19/423,183/587	75398611	1,12847	2165	4259	6424	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75398611G>A	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.547G>A	17.37:g.75398611G>A	ENSP00000391249:p.Ala183Thr					SEPT9_ENST00000591198.1_Missense_Mutation_p.A164T|SEPT9_ENST00000423034.2_Missense_Mutation_p.A176T|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.A183T|SEPT9_ENST00000590294.1_Missense_Mutation_p.A165T|SEPT9_ENST00000449803.2_Missense_Mutation_p.A19T|SEPT9_ENST00000431235.2_Missense_Mutation_p.A19T|SEPT9_ENST00000427674.2_Missense_Mutation_p.A19T|SEPT9_ENST00000588690.1_Missense_Mutation_p.A19T	p.A165T	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	1305	+			183					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.493G>A	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843933	0.32606	0.0	1.17E-4	ENSG00000184640	ENST00000427177;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674	T;T;T;T;T	0.43688	1.29;0.94;1.31;1.3;0.94	5.16	3.17	0.36434	.	1.533910	0.03373	N	0.199283	T	0.32406	0.0828	L	0.33485	1.01	0.20563	N	0.999889	B;P;B;B;B	0.43607	0.003;0.812;0.002;0.003;0.002	B;B;B;B;B	0.36092	0.001;0.217;0.002;0.004;0.0	T	0.23976	-1.0173	10	0.27785	T	0.31	.	8.1819	0.31315	0.2441:0.0:0.7559:0.0	.	164;144;176;165;183	Q9UHD8-7;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;SEPT9_HUMAN	T	183;19;165;176;19	ENSP00000391249:A183T;ENSP00000400181:A19T;ENSP00000329161:A165T;ENSP00000405877:A176T;ENSP00000403194:A19T	ENSP00000329161:A165T	A	+	1	0	SEPT9	72910206	0.000000	0.05858	0.611000	0.29010	0.932000	0.56968	-0.318000	0.08050	0.578000	0.29487	-0.327000	0.08410	GCA		0.677	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		5	3	0	0	0	1	0	5	3				
AMHR2	269	broad.mit.edu	37	12	53819521	53819521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53819521G>T	ENST00000257863.4	+	6	750	c.670G>T	c.(670-672)Gga>Tga	p.G224*	AMHR2_ENST00000379791.3_Nonsense_Mutation_p.G224*|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.G224*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCAGCTGCAAGGAAAACTGGT	0.577																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(670-672)Gga>Tga		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						71.0	59.0	63.0					12																	53819521		2203	4300	6503	SO:0001587	stop_gained	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819521G>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.670G>T	12.37:g.53819521G>T	ENSP00000257863:p.Gly224*					AMHR2_ENST00000550311.1_Nonsense_Mutation_p.G224*|AMHR2_ENST00000379791.3_Nonsense_Mutation_p.G224*	p.G224*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			6	750	+			224			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Nonsense_Mutation	SNP	ENST00000257863.4	37	c.670G>T	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068993	0.93950	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	.	.	.	5.66	4.76	0.60689	.	0.000000	0.39544	N	0.001334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.165	0.48537	0.0886:0.0:0.9114:0.0	.	.	.	.	X	224	.	ENSP00000257863:G224X	G	+	1	0	AMHR2	52105788	0.924000	0.31332	0.956000	0.39512	0.869000	0.49853	2.355000	0.44107	2.840000	0.97914	0.655000	0.94253	GGA		0.577	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		11	15	1	0	0.000978159	1	0.00105116	11	15				
UGT2B10	7365	broad.mit.edu	37	4	69682430	69682430	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69682430G>T	ENST00000265403.7	+	1	720	c.693G>T	c.(691-693)tgG>tgT	p.W231C	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	231					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGAAGTGGGATCAGTTTT	0.303																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(691-693)tgG>tgT		UDP glucuronosyltransferase 2 family, polypeptide B10							34.0	37.0	36.0					4																	69682430		2182	4273	6455	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682430G>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.693G>T	4.37:g.69682430G>T	ENSP00000265403:p.Trp231Cys					UGT2B10_ENST00000458688.2_Intron	p.W231C	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			1	720	+			231					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.693G>T		.	.	.	.	.	.	.	.	.	.	g	4.475	0.088026	0.08583	.	.	ENSG00000109181	ENST00000265403	T	0.62105	0.05	2.63	1.74	0.24563	.	0.496290	0.17174	U	0.184165	T	0.80737	0.4680	M	0.92219	3.285	0.53688	D	0.99997	D	0.89917	1.0	D	0.85130	0.997	T	0.79391	-0.1823	10	0.87932	D	0	.	8.1291	0.31016	0.0:0.0:0.7581:0.2419	.	231	P36537	UDB10_HUMAN	C	231	ENSP00000265403:W231C	ENSP00000265403:W231C	W	+	3	0	UGT2B10	69717019	0.993000	0.37304	0.031000	0.17742	0.061000	0.15899	1.148000	0.31614	0.282000	0.22254	0.184000	0.17185	TGG		0.303	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		13	28	1	0	7.93312e-07	1	9.21973e-07	13	28				
SLC25A3	5250	broad.mit.edu	37	12	98991750	98991750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98991750G>T	ENST00000228318.3	+	4	519	c.399G>T	c.(397-399)caG>caT	p.Q133H	SLC25A3_ENST00000401722.3_Missense_Mutation_p.Q132H|SLC25A3_ENST00000547534.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000549338.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000552981.1_Missense_Mutation_p.Q132H|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000548847.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000188376.5_Missense_Mutation_p.Q132H|SLC25A3_ENST00000551917.1_Missense_Mutation_p.Q133H	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	133					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACTCCATGCAGGGACTCTGCA	0.403																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(394-396)caG>caT		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							147.0	133.0	138.0					12																	98991750		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98991750G>T		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.399G>T	12.37:g.98991750G>T	ENSP00000228318:p.Gln133His					SLC25A3_ENST00000547534.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000549338.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000548847.1_Missense_Mutation_p.Q132H|SLC25A3_ENST00000401722.3_Missense_Mutation_p.Q132H|SLC25A3_ENST00000551917.1_Missense_Mutation_p.Q133H|SLC25A3_ENST00000228318.3_Missense_Mutation_p.Q133H|SLC25A3_ENST00000552981.1_Missense_Mutation_p.Q132H	p.Q132H	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	3	750	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	133					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.396G>T	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861431	0.51482	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000548046;ENST00000552981;ENST00000550695;ENST00000547534;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.49	-8.79	0.00820	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	M	0.89214	3.015	0.80722	D	1	D;P;D;D	0.89917	0.999;0.899;0.998;1.0	D;P;D;D	0.87578	0.982;0.833;0.997;0.998	D	0.91226	0.5010	10	0.87932	D	0	-17.5228	18.1255	0.89584	0.7123:0.0:0.2877:0.0	.	132;132;133;132	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	H	132;132;133;133;133;132;133;132;132;132	ENSP00000383898:Q132H;ENSP00000188376:Q132H;ENSP00000228318:Q133H;ENSP00000447310:Q133H;ENSP00000447339:Q133H;ENSP00000448708:Q132H;ENSP00000449479:Q133H;ENSP00000449793:Q132H;ENSP00000447740:Q132H;ENSP00000449166:Q132H	ENSP00000188376:Q132H	Q	+	3	2	SLC25A3	97515881	0.911000	0.30947	0.352000	0.25734	0.310000	0.27922	0.016000	0.13377	-2.469000	0.00531	-1.000000	0.02509	CAG		0.403	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		4	72	1	0	0.150653	1	0.152692	4	72				
ABCC5	10057	broad.mit.edu	37	3	183699552	183699552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183699552C>T	ENST00000334444.6	-	8	1350	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.M370I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	370	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCCAGGCATACATTTTGATAA	0.398																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1108-1110)atG>atA		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							93.0	91.0	92.0					3																	183699552		1871	4102	5973	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183699552C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1110G>A	3.37:g.183699552C>T	ENSP00000333926:p.Met370Ile					ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.M370I	p.M370I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1350	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		370			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1110G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203967	0.95033	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.88818	-2.43;-2.43	5.73	5.73	0.89815	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94843	0.8334	M	0.80183	2.485	0.80722	D	1	D;P	0.76494	0.999;0.926	D;P	0.75020	0.985;0.842	D	0.94714	0.7895	10	0.66056	D	0.02	-36.8531	19.9133	0.97031	0.0:1.0:0.0:0.0	.	370;370	Q86UX3;O15440	.;MRP5_HUMAN	I	370;306;370	ENSP00000333926:M370I;ENSP00000265586:M370I	ENSP00000265586:M370I	M	-	3	0	ABCC5	185182246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.721000	0.93114	0.655000	0.94253	ATG		0.398	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		4	87	0	0	0	1	0	4	87				
SPATA31E1	286234	broad.mit.edu	37	9	90503722	90503722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90503722G>T	ENST00000325643.5	+	4	4386	c.4320G>T	c.(4318-4320)caG>caT	p.Q1440H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1440					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTCTGCACAGAGGTGTCTTG	0.567																																						ENST00000325643.5																			0											c.(4318-4320)caG>caT		SPATA31 subfamily E, member 1							16.0	19.0	18.0					9																	90503722		2191	4283	6474	SO:0001583	missense	286234							g.chr9:90503722G>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.4320G>T	9.37:g.90503722G>T	ENSP00000322640:p.Gln1440His						p.Q1440H	NM_178828.4	NP_849150.3					4	4386	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.4320G>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	9.293	1.051178	0.19827	.	.	ENSG00000177992	ENST00000325643	T	0.03920	3.76	2.12	-0.674	0.11369	.	1024.730000	0.00166	N	0.000008	T	0.02929	0.0087	N	0.19112	0.55	0.09310	N	1	P	0.43024	0.798	B	0.30782	0.12	T	0.31724	-0.9933	10	0.87932	D	0	.	2.2975	0.04153	0.4387:0.3026:0.2587:0.0	.	1440	Q6ZUB1	CI079_HUMAN	H	1440	ENSP00000322640:Q1440H	ENSP00000322640:Q1440H	Q	+	3	2	C9orf79	89693542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.485000	0.06520	-0.160000	0.11002	-0.222000	0.12452	CAG		0.567	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		8	22	1	0	0.0381472	1	0.0390147	8	22				
KCNA1	3736	broad.mit.edu	37	12	5021550	5021550	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5021550G>A	ENST00000382545.3	+	2	2113	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	336					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCTCTTCATCGGGGTCATCCT	0.552																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1006-1008)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						115.0	119.0	118.0					12																	5021550		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021550G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1006G>A	12.37:g.5021550G>A	ENSP00000371985:p.Gly336Arg					KCNA1_ENST00000543874.2_Intron	p.G336R	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	2113	+			336					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1006G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183585	0.78677	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.98550	-4.99	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98314	1.0525	10	0.87932	D	0	.	18.0083	0.89216	0.0:0.0:1.0:0.0	.	336	Q09470	KCNA1_HUMAN	R	336	ENSP00000371985:G336R	ENSP00000228858:G336R	G	+	1	0	KCNA1	4891811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.587000	0.98229	2.793000	0.96121	0.655000	0.94253	GGG		0.552	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		39	61	0	0	0	1	0	39	61				
KDM1A	23028	broad.mit.edu	37	1	23385652	23385652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23385652G>A	ENST00000356634.3	+	8	1248	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	MIR4419A_ENST00000583845.1_RNA|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.G387R|KDM1A_ENST00000542151.1_Missense_Mutation_p.G387R	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	367	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGAAGCCAACGGACAAGCTGT	0.383																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1159-1161)Gga>Aga		lysine (K)-specific demethylase 1A							81.0	69.0	73.0					1																	23385652		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23385652G>A	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1099G>A	1.37:g.23385652G>A	ENSP00000349049:p.Gly367Arg					KDM1A_ENST00000542151.1_Missense_Mutation_p.G387R|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.G367R	p.G387R	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			9	1263	+			367			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1159G>A	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432956	0.96150	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.21734	1.99;1.99;1.99	6.02	6.02	0.97574	Amine oxidase (1);	0.106889	0.64402	D	0.000005	T	0.60495	0.2273	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.69390	-0.5158	10	0.87932	D	0	-23.7978	19.5352	0.95251	0.0:0.0:1.0:0.0	.	387;367	O60341-2;O60341	.;KDM1A_HUMAN	R	367;387;387	ENSP00000349049:G367R;ENSP00000383042:G387R;ENSP00000439072:G387R	ENSP00000349049:G367R	G	+	1	0	KDM1A	23258239	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.770000	0.98971	2.850000	0.98022	0.650000	0.86243	GGA		0.383	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		6	35	0	0	0	1	0	6	35				
SLC35E1	79939	broad.mit.edu	37	19	16664712	16664712	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16664712G>A	ENST00000595753.1	-	6	1028	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	CTD-3222D19.11_ENST00000597357.1_RNA|SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	337					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGTTTGCATCGTACTTGGTCT	0.577																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(1009-1011)taC>taT		solute carrier family 35, member E1							72.0	55.0	61.0					19																	16664712		2203	4300	6503	SO:0001819	synonymous_variant	79939				transport	integral to membrane		g.chr19:16664712G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1011C>T	19.37:g.16664712G>A						CTD-3222D19.2_ENST00000409035.1_3'UTR	p.Y337Y	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			6	1028	-			337					Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	c.1011C>T	CCDS12346.2																																																																																				0.577	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		9	30	0	0	0	1	0	9	30				
IL1RL2	8808	broad.mit.edu	37	2	102842450	102842450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102842450G>A	ENST00000264257.2	+	9	1210	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.D244N|IL1RL2_ENST00000539491.1_Missense_Mutation_p.D362N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	362					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTTTAAGATCGACATTGTTCT	0.408																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1084-1086)Gac>Aac		interleukin 1 receptor-like 2							160.0	133.0	142.0					2																	102842450		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102842450G>A	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1084G>A	2.37:g.102842450G>A	ENSP00000264257:p.Asp362Asn					IL1RL2_ENST00000539491.1_Missense_Mutation_p.D362N|IL1RL2_ENST00000441515.2_Missense_Mutation_p.D244N|IL1RL2_ENST00000481806.1_3'UTR	p.D362N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			9	1210	+			362					A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1084G>A	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400141	0.62177	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03801	4.04;3.8;4.04	5.78	5.78	0.91487	.	0.118259	0.53938	D	0.000051	T	0.23806	0.0576	M	0.83483	2.645	0.51767	D	0.999935	D;D	0.89917	1.0;0.999	D;D	0.65010	0.931;0.931	T	0.00514	-1.1695	10	0.32370	T	0.25	.	20.0197	0.97489	0.0:0.0:1.0:0.0	.	244;362	A4FU63;Q9HB29	.;ILRL2_HUMAN	N	362;244;362	ENSP00000264257:D362N;ENSP00000413348:D244N;ENSP00000442184:D362N	ENSP00000264257:D362N	D	+	1	0	IL1RL2	102208882	1.000000	0.71417	0.485000	0.27403	0.008000	0.06430	6.464000	0.73534	2.718000	0.92993	0.655000	0.94253	GAC		0.408	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		25	48	0	0	0	1	0	25	48				
PADI3	51702	broad.mit.edu	37	1	17575639	17575639	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17575639C>A	ENST00000375460.3	+	1	47	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	3					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCATGTCGCTGCAGAGAAT	0.612																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(7-9)Ctg>Atg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						138.0	116.0	123.0					1																	17575639		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575639C>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.7C>A	1.37:g.17575639C>A	ENSP00000364609:p.Leu3Met						p.L3M	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	47	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	3					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.7C>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448782	0.43531	.	.	ENSG00000142619	ENST00000375460	T	0.10099	2.91	5.56	2.42	0.29668	Protein-arginine deiminase (PAD) N-terminal (1);	0.531001	0.18915	N	0.127645	T	0.09730	0.0239	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.20384	0.029	T	0.26121	-1.0112	10	0.34782	T	0.22	-0.9376	11.7494	0.51839	0.5413:0.4587:0.0:0.0	.	3	Q9ULW8	PADI3_HUMAN	M	3	ENSP00000364609:L3M	ENSP00000364609:L3M	L	+	1	2	PADI3	17448226	0.386000	0.25180	0.034000	0.17996	0.932000	0.56968	0.742000	0.26216	0.182000	0.20032	0.561000	0.74099	CTG		0.612	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			10	57	1	0	0.0581538	1	0.0593651	10	57				
FAM53B	9679	broad.mit.edu	37	10	126370557	126370557	+	Silent	SNP	G	G	A	rs139649397		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126370557G>A	ENST00000337318.3	-	4	736	c.525C>T	c.(523-525)aaC>aaT	p.N175N	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Silent_p.N175N|FAM53B_ENST00000280780.6_Silent_p.N175N	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	175										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGAGAGCACGTTGGCCCGGG	0.647																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(523-525)aaC>aaT		family with sequence similarity 53, member B		G		0,4406		0,0,2203	46.0	48.0	48.0		525	-3.8	0.0	10	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM53B	NM_014661.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		175/423	126370557	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9679							g.chr10:126370557G>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.525C>T	10.37:g.126370557G>A						FAM53B_ENST00000392754.3_Silent_p.N175N|FAM53B_ENST00000280780.6_Silent_p.N175N|RP11-12J10.3_ENST00000494792.1_3'UTR	p.N175N	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	736	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	175					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Silent	SNP	ENST00000337318.3	37	c.525C>T	CCDS7641.1																																																																																				0.647	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		7	41	0	0	0	1	0	7	41				
CACNA1H	8912	broad.mit.edu	37	16	1250550	1250550	+	Silent	SNP	C	C	T	rs370077125		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1250550C>T	ENST00000348261.5	+	7	1346	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	CACNA1H_ENST00000565831.1_Silent_p.Y366Y|CACNA1H_ENST00000358590.4_Silent_p.Y366Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	366					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACATCGGCTACGCCTGGATTG	0.647																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(1096-1098)taC>taT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)	T	,	0,4194		0,0,2097	50.0	54.0	53.0		1098,1098	-8.8	0.3	16		53	1,8407		0,1,4203	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6300	TT,TC,CC		0.0119,0.0,0.0079	,	366/2348,366/2354	1250550	1,12601	2097	4204	6301	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250550C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1098C>T	16.37:g.1250550C>T						CACNA1H_ENST00000565831.1_Silent_p.Y366Y|CACNA1H_ENST00000358590.4_Silent_p.Y366Y	p.Y366Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			7	1346	+		Hepatocellular(780;0.00369)	366					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.1098C>T	CCDS45375.1																																																																																				0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		19	11	0	0	0	1	0	19	11				
ELFN2	114794	broad.mit.edu	37	22	37771272	37771272	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37771272G>A	ENST00000402918.2	-	3	1088	c.303C>T	c.(301-303)ggC>ggT	p.G101G	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	101					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCTCGACTGGCCCAGGAAGG	0.602																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(301-303)ggC>ggT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							111.0	109.0	110.0					22																	37771272		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37771272G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.303C>T	22.37:g.37771272G>A						ELFN2_ENST00000349653.3_Silent_p.G101G|RP1-63G5.5_ENST00000430883.1_RNA	p.G101G	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1088	-	Melanoma(58;0.0574)		101					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.303C>T	CCDS33642.1																																																																																				0.602	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		5	32	0	0	0	1	0	5	32				
LIN54	132660	broad.mit.edu	37	4	83905840	83905840	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905840G>T	ENST00000340417.3	-	2	535	c.158C>A	c.(157-159)aCt>aAt	p.T53N	LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.T53N|LIN54_ENST00000395282.2_Missense_Mutation_p.T53N|LIN54_ENST00000506560.1_Missense_Mutation_p.T53N|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.T53N	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	53					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGAGTCACCAGTAGAATTTAT	0.408																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(157-159)aCt>aAt		lin-54 homolog (C. elegans)							210.0	195.0	200.0					4																	83905840		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905840G>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.158C>A	4.37:g.83905840G>T	ENSP00000341947:p.Thr53Asn					LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.T53N|LIN54_ENST00000506560.1_Missense_Mutation_p.T53N|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.T53N|LIN54_ENST00000395283.2_Missense_Mutation_p.T53N|LIN54_ENST00000510557.1_Intron	p.T53N	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			2	535	-		Hepatocellular(203;0.114)	53					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.158C>A	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	6.951	0.545362	0.13312	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.26	4.41	0.53225	.	0.420524	0.23844	N	0.044017	T	0.26412	0.0645	N	0.24115	0.695	0.28024	N	0.934384	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.16541	-1.0399	9	0.66056	D	0.02	-8.8731	5.4198	0.16394	0.0758:0.1434:0.6322:0.1486	.	53;53	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	N	53	.	ENSP00000341947:T53N	T	-	2	0	LIN54	84124864	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	3.185000	0.50934	1.187000	0.43000	-0.293000	0.09583	ACT		0.408	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		39	44	1	0	2.19358e-23	1	2.90382e-23	39	44				
VTI1A	143187	broad.mit.edu	37	10	114575091	114575091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114575091C>T	ENST00000393077.2	+	8	719	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	201					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TAGGGATCATCGTGGTCATCA	0.458			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(601-603)atC>atT		vesicle transport through interaction with t-SNAREs 1A							151.0	144.0	146.0					10																	114575091		2051	4200	6251	SO:0001819	synonymous_variant	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114575091C>T	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.603C>T	10.37:g.114575091C>T							p.I201I	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	8	719	+		Colorectal(252;0.0314)|Breast(234;0.183)	0					A2A307|B4E137|Q5W0D7	Silent	SNP	ENST00000393077.2	37	c.603C>T	CCDS7575.2																																																																																				0.458	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			13	43	0	0	0	1	0	13	43				
DHX32	55760	broad.mit.edu	37	10	127548312	127548312	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127548312C>A	ENST00000284690.3	-	3	1199	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	DHX32_ENST00000284688.6_Missense_Mutation_p.V237L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	237	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTATTTTTCACTTCTATGACA	0.398																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(709-711)Gtg>Ttg		DEAH (Asp-Glu-Ala-His) box polypeptide 32							136.0	139.0	138.0					10																	127548312		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127548312C>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.709G>T	10.37:g.127548312C>A	ENSP00000284690:p.Val237Leu					DHX32_ENST00000284688.6_Missense_Mutation_p.V237L	p.V237L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			3	1199	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	237			Helicase ATP-binding.		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.709G>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264795	0.23136	.	.	ENSG00000089876	ENST00000284690;ENST00000284688	T;T	0.13089	2.62;2.62	4.99	4.99	0.66335	DEAD-like helicase (1);	0.320980	0.31257	N	0.007977	T	0.13798	0.0334	L	0.47190	1.495	0.20489	N	0.999898	B;B	0.27625	0.183;0.007	B;B	0.26416	0.069;0.003	T	0.14337	-1.0476	10	0.87932	D	0	-28.2369	10.9531	0.47341	0.0:0.9159:0.0:0.0841	.	237;237	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	L	237	ENSP00000284690:V237L;ENSP00000284688:V237L	ENSP00000284688:V237L	V	-	1	0	DHX32	127538302	0.871000	0.30034	0.988000	0.46212	0.988000	0.76386	1.446000	0.35090	2.593000	0.87608	0.655000	0.94253	GTG		0.398	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		8	124	1	0	2.52707e-12	1	3.17576e-12	8	124				
MYO7B	4648	broad.mit.edu	37	2	128381746	128381746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128381746G>A	ENST00000409816.2	+	28	3852	c.3820G>A	c.(3820-3822)Gag>Aag	p.E1274K	MYO7B_ENST00000409090.1_Missense_Mutation_p.E127K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1274K|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Missense_Mutation_p.E1274K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1274	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAGGGGCGAGAGCCAGCG	0.642																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(3820-3822)Gag>Aag		myosin VIIB							21.0	27.0	26.0					2																	128381746		1989	4150	6139	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128381746G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3820G>A	2.37:g.128381746G>A	ENSP00000386461:p.Glu1274Lys					MYO7B_ENST00000409816.2_Missense_Mutation_p.E1274K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1274K|MYO7B_ENST00000409090.1_Missense_Mutation_p.E127K	p.E1274K			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	29	3873	+	Colorectal(110;0.1)		1274			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3820G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	15.22	2.769918	0.49680	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	3.67	3.67	0.42095	Band 4.1 domain (1);FERM domain (1);	0.277129	0.36034	N	0.002835	T	0.57651	0.2068	L	0.45137	1.4	0.36900	D	0.890364	B	0.32620	0.378	B	0.21151	0.033	T	0.58696	-0.7591	10	0.07482	T	0.82	.	11.3135	0.49377	0.0957:0.0:0.9043:0.0	.	1274	Q6PIF6	MYO7B_HUMAN	K	1274;1274;127;1274;127;127	ENSP00000374175:E1274K;ENSP00000415090:E1274K;ENSP00000386461:E1274K;ENSP00000404927:E127K;ENSP00000386850:E127K	ENSP00000272666:E127K	E	+	1	0	MYO7B	128098216	0.990000	0.36364	0.739000	0.30968	0.702000	0.40608	6.070000	0.71220	2.355000	0.79922	0.491000	0.48974	GAG		0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		4	1	0	0	0	1	0	4	1				
CLDN25	644672	broad.mit.edu	37	11	113650928	113650928	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113650928C>A	ENST00000453129.2	+	1	460	c.411C>A	c.(409-411)gtC>gtA	p.V137V		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCTTCCAGTCTCCTGGGTGG	0.567																																						ENST00000453129.2																			0				large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(409-411)gtC>gtA		claudin 25							68.0	72.0	71.0					11																	113650928		1953	4135	6088	SO:0001819	synonymous_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650928C>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.411C>A	11.37:g.113650928C>A							p.V137V	NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN			1	460	+			137						Silent	SNP	ENST00000453129.2	37	c.411C>A	CCDS44736.1																																																																																				0.567	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		28	32	1	0	5.45727e-16	1	7.024e-16	28	32				
CYFIP2	26999	broad.mit.edu	37	5	156727724	156727724	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156727724G>A	ENST00000521420.1	+	5	402	c.311G>A	c.(310-312)cGc>cAc	p.R104H	CYFIP2_ENST00000377576.3_Splice_Site_p.R130H|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Splice_Site_p.R55H|CYFIP2_ENST00000347377.6_Splice_Site_p.R130H|CYFIP2_ENST00000318218.6_Splice_Site_p.R130H|CYFIP2_ENST00000442283.2_5'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCCCAGCGCAAGGCCATC	0.642																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.e6-1		cytoplasmic FMR1 interacting protein 2							39.0	38.0	39.0					5																	156727724		2044	4211	6255	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156727724G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.310-1G>A	5.37:g.156727724G>A						CYFIP2_ENST00000541131.1_Splice_Site_p.R55_splice|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Splice_Site_p.R104_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.R130_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.R130_splice	p.R130_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	820	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	130						Splice_Site	SNP	ENST00000521420.1	37	c.387_splice		.	.	.	.	.	.	.	.	.	.	G	20.9	4.061251	0.76187	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.9	4.9	0.64082	.	0.100116	0.64402	D	0.000001	T	0.58061	0.2096	L	0.59436	1.845	0.80722	D	1	B;P;B;D;B	0.56521	0.013;0.533;0.025;0.976;0.001	B;B;B;P;B	0.58928	0.002;0.062;0.012;0.848;0.002	T	0.58842	-0.7565	10	0.48119	T	0.1	-10.9614	18.4394	0.90660	0.0:0.0:1.0:0.0	.	104;130;130;130;55	E7EVJ5;E7EVF4;Q96F07-2;Q96F07;B7Z4I3	.;.;.;CYFP2_HUMAN;.	H	130;104;130;130;55	ENSP00000325817:R130H;ENSP00000430904:R104H;ENSP00000313567:R130H;ENSP00000366799:R130H;ENSP00000444645:R55H	ENSP00000325817:R130H	R	+	2	0	CYFIP2	156660302	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.701000	0.98710	2.416000	0.81992	0.561000	0.74099	CGC		0.642	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Missense_Mutation	5	5	0	0	0	1	0	5	5				
SERPINA12	145264	broad.mit.edu	37	14	94964601	94964601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964601G>A	ENST00000341228.2	-	3	929	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A45V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	45					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAGCTCCTTGGCTGCCATCCT	0.502																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(133-135)gCc>gTc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							166.0	154.0	158.0					14																	94964601		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964601G>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.134C>T	14.37:g.94964601G>A	ENSP00000342109:p.Ala45Val					SERPINA12_ENST00000556881.1_Missense_Mutation_p.A45V	p.A45V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	929	-			45						Missense_Mutation	SNP	ENST00000341228.2	37	c.134C>T	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055386	0.36277	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87256	-2.23;-2.23	5.61	2.51	0.30379	Serpin domain (1);	0.562043	0.16892	N	0.195297	T	0.67468	0.2896	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.51348	-0.8717	10	0.16420	T	0.52	.	2.9019	0.05708	0.0889:0.2474:0.4193:0.2444	.	45	Q8IW75	SPA12_HUMAN	V	45	ENSP00000451738:A45V;ENSP00000342109:A45V	ENSP00000342109:A45V	A	-	2	0	SERPINA12	94034354	0.000000	0.05858	0.171000	0.22900	0.172000	0.22775	0.078000	0.14761	1.383000	0.46405	0.655000	0.94253	GCC		0.502	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		58	108	0	0	0	1	0	58	108				
PAX3	5077	broad.mit.edu	37	2	223160331	223160331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223160331T>C	ENST00000350526.4	-	3	503	c.367A>G	c.(367-369)Aga>Gga	p.R123G	PAX3_ENST00000409551.3_Missense_Mutation_p.R122G|PAX3_ENST00000344493.4_Missense_Mutation_p.R123G|PAX3_ENST00000336840.6_Missense_Mutation_p.R123G|PAX3_ENST00000392070.2_Missense_Mutation_p.R123G|PAX3_ENST00000409828.3_Missense_Mutation_p.R123G|PAX3_ENST00000258387.5_Missense_Mutation_p.R123G|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000392069.2_Missense_Mutation_p.R123G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	123	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTTCTCTCTTTTGTATTCC	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)Aga>Gga		paired box 3							138.0	128.0	132.0					2																	223160331		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223160331T>C		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.367A>G	2.37:g.223160331T>C	ENSP00000343052:p.Arg123Gly					PAX3_ENST00000336840.6_Missense_Mutation_p.R123G|PAX3_ENST00000409828.3_Missense_Mutation_p.R123G|PAX3_ENST00000392070.2_Missense_Mutation_p.R123G|PAX3_ENST00000258387.5_Missense_Mutation_p.R123G|PAX3_ENST00000344493.4_Missense_Mutation_p.R123G|PAX3_ENST00000409551.3_Missense_Mutation_p.R122G|PAX3_ENST00000392069.2_Missense_Mutation_p.R123G	p.R123G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	503	-		Renal(207;0.0183)	123			Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.367A>G	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917669	0.52546	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98	5.71	1.69	0.24217	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.085531	0.85682	D	0.000000	D	0.98741	0.9577	M	0.74546	2.27	0.48395	D	0.999649	B;D;P;B;P;P;B	0.54047	0.207;0.964;0.946;0.351;0.589;0.692;0.436	B;P;B;B;B;B;B	0.45610	0.219;0.487;0.14;0.073;0.063;0.16;0.043	D	0.97408	1.0000	10	0.87932	D	0	.	13.8876	0.63717	0.0:0.0:0.5023:0.4977	.	123;123;123;122;123;123;123	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	G	123;123;123;123;123;122;123;123	ENSP00000375921:R123G;ENSP00000342092:R123G;ENSP00000343052:R123G;ENSP00000375922:R123G;ENSP00000338767:R123G;ENSP00000386750:R122G;ENSP00000386817:R123G;ENSP00000258387:R123G	ENSP00000258387:R123G	R	-	1	2	PAX3	222868575	0.974000	0.33945	1.000000	0.80357	0.996000	0.88848	-0.074000	0.11450	0.395000	0.25257	0.533000	0.62120	AGA		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			19	41	0	0	0	1	0	19	41				
MAB21L2	10586	broad.mit.edu	37	4	151504852	151504852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504852C>T	ENST00000317605.4	+	1	1776	c.671C>T	c.(670-672)tCg>tTg	p.S224L	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	224					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AAGCAGAGCTCGGCAGAGAGC	0.637																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(670-672)tCg>tTg		mab-21-like 2 (C. elegans)							36.0	38.0	38.0					4																	151504852		2203	4299	6502	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504852C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.671C>T	4.37:g.151504852C>T	ENSP00000324701:p.Ser224Leu					LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron	p.S224L	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1776	+	all_hematologic(180;0.151)		224					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.671C>T	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943498	0.53079	.	.	ENSG00000181541	ENST00000317605	T	0.09911	2.93	5.55	4.7	0.59300	Ricin B lectin (1);	0.068369	0.64402	D	0.000009	T	0.11153	0.0272	L	0.51422	1.61	0.58432	D	0.999995	P	0.48089	0.905	B	0.41571	0.36	T	0.13791	-1.0496	10	0.10111	T	0.7	-8.657	14.0366	0.64649	0.0:0.9278:0.0:0.0722	.	224	Q9Y586	MB212_HUMAN	L	224	ENSP00000324701:S224L	ENSP00000324701:S224L	S	+	2	0	MAB21L2	151724302	1.000000	0.71417	0.784000	0.31847	0.977000	0.68977	7.818000	0.86416	1.345000	0.45676	0.462000	0.41574	TCG		0.637	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		24	24	0	0	0	1	0	24	24				
FHOD1	29109	broad.mit.edu	37	16	67264291	67264291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67264291G>A	ENST00000258201.4	-	19	3224	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	993	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.R993R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGTAGCACTCGTTCCCGGCAA	0.612																																						ENST00000258201.4																			1	Substitution - coding silent(1)	p.R993R(1)	upper_aerodigestive_tract(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2977-2979)Cga>Tga		formin homology 2 domain containing 1							96.0	89.0	91.0					16																	67264291		2198	4300	6498	SO:0001587	stop_gained	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264291G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2977C>T	16.37:g.67264291G>A	ENSP00000258201:p.Arg993*					FHOD1_ENST00000567687.1_Nonsense_Mutation_p.R572*	p.R993*	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3224	-		Ovarian(137;0.0563)	993			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Nonsense_Mutation	SNP	ENST00000258201.4	37	c.2977C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	40	8.398343	0.98794	.	.	ENSG00000135723	ENST00000258201	.	.	.	5.85	4.9	0.64082	.	0.058166	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5254	0.33302	0.077:0.0:0.7707:0.1523	.	.	.	.	X	993	.	ENSP00000258201:R993X	R	-	1	2	FHOD1	65821792	1.000000	0.71417	0.997000	0.53966	0.722000	0.41435	4.165000	0.58196	1.485000	0.48380	0.561000	0.74099	CGA		0.612	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			22	31	0	0	0	1	0	22	31				
MUC16	94025	broad.mit.edu	37	19	9067202	9067202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9067202C>A	ENST00000397910.4	-	3	20447	c.20244G>T	c.(20242-20244)caG>caT	p.Q6748H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6750	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAATGTGCCCTGTGATGTAG	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20242-20244)caG>caT		mucin 16, cell surface associated							282.0	277.0	278.0					19																	9067202		2197	4289	6486	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067202C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20244G>T	19.37:g.9067202C>A	ENSP00000381008:p.Gln6748His						p.Q6748H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20447	-			6750			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20244G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.434	0.080326	0.08533	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	2.52	-2.12	0.07165	.	.	.	.	.	T	0.13543	0.0328	L	0.27053	0.805	.	.	.	B	0.27594	0.182	B	0.18871	0.023	T	0.22661	-1.0210	8	0.87932	D	0	.	3.5875	0.07977	0.0:0.3388:0.3441:0.3171	.	6748	B5ME49	.	H	6748	ENSP00000381008:Q6748H	ENSP00000381008:Q6748H	Q	-	3	2	MUC16	8928202	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.660000	0.05317	-0.248000	0.09583	0.386000	0.25728	CAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	238	1	0	6.44725e-10	1	7.89499e-10	22	238				
SEL1L3	23231	broad.mit.edu	37	4	25835087	25835087	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25835087A>G	ENST00000399878.3	-	4	1087	c.965T>C	c.(964-966)gTa>gCa	p.V322A	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V287A|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V169A	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	322						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CGTAAGAAATACAGAAGGTGT	0.373																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(964-966)gTa>gCa		sel-1 suppressor of lin-12-like 3 (C. elegans)							71.0	64.0	66.0					4																	25835087		1852	4099	5951	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25835087A>G	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.965T>C	4.37:g.25835087A>G	ENSP00000382767:p.Val322Ala					SEL1L3_ENST00000502949.1_Missense_Mutation_p.V169A|SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V287A	p.V322A	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			4	1087	-			322					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.965T>C	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.142996	0.37825	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.50813	0.73;0.73;0.73	6.06	6.06	0.98353	.	0.483859	0.23861	N	0.043844	T	0.38931	0.1059	L	0.40543	1.245	0.19575	N	0.999968	B	0.33000	0.393	B	0.24006	0.05	T	0.45071	-0.9286	10	0.72032	D	0.01	-11.3493	14.1325	0.65263	1.0:0.0:0.0:0.0	.	322	Q68CR1	SE1L3_HUMAN	A	322;287;169	ENSP00000382767:V322A;ENSP00000264868:V287A;ENSP00000425438:V169A	ENSP00000264868:V287A	V	-	2	0	SEL1L3	25444185	1.000000	0.71417	0.417000	0.26559	0.765000	0.43378	5.293000	0.65680	2.324000	0.78689	0.533000	0.62120	GTA		0.373	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		12	19	0	0	0	1	0	12	19				
BFSP1	631	broad.mit.edu	37	20	17475209	17475209	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475209G>T	ENST00000377873.3	-	8	1547	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	BFSP1_ENST00000536626.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000544874.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S378Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	503	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ATAAAGCACAGAGTCTTCCGC	0.547																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1507-1509)tCt>tAt		beaded filament structural protein 1, filensin							65.0	57.0	59.0					20																	17475209		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475209G>T	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1508C>A	20.37:g.17475209G>T	ENSP00000367104:p.Ser503Tyr					BFSP1_ENST00000544874.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S378Y	p.S503Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1547	-			503			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1508C>A	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	3.725	-0.056787	0.07362	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.89	3.81	0.43845	.	0.506160	0.21905	N	0.067391	T	0.61714	0.2369	L	0.54323	1.7	0.09310	N	1	D;B	0.65815	0.995;0.039	P;B	0.61201	0.885;0.023	T	0.51317	-0.8721	10	0.36615	T	0.2	-7.8636	12.0331	0.53410	0.0:0.0:0.7701:0.2299	.	378;503	Q12934-2;Q12934	.;BFSP1_HUMAN	Y	503;378;364;364	ENSP00000367104:S503Y;ENSP00000367099:S378Y;ENSP00000442522:S364Y;ENSP00000439870:S364Y	ENSP00000367099:S378Y	S	-	2	0	BFSP1	17423209	0.178000	0.23122	0.166000	0.22797	0.017000	0.09413	2.705000	0.47127	2.405000	0.81733	0.655000	0.94253	TCT		0.547	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		14	17	1	0	6.31663e-08	1	7.49729e-08	14	17				
CD93	22918	broad.mit.edu	37	20	23065073	23065073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065073A>G	ENST00000246006.4	-	1	1904	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	586					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGCCTAGGATGTAGAATAA	0.597																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1756-1758)aTc>aCc		CD93 molecule							152.0	146.0	148.0					20																	23065073		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065073A>G	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1757T>C	20.37:g.23065073A>G	ENSP00000246006:p.Ile586Thr						p.I586T	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1904	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		586					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1757T>C	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064707	0.76187	.	.	ENSG00000125810	ENST00000246006	D	0.82081	-1.57	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000013	D	0.89918	0.6854	M	0.71581	2.175	0.40740	D	0.982826	D	0.89917	1.0	D	0.85130	0.997	D	0.90234	0.4281	10	0.46703	T	0.11	-40.1766	14.0257	0.64584	1.0:0.0:0.0:0.0	.	586	Q9NPY3	C1QR1_HUMAN	T	586	ENSP00000246006:I586T	ENSP00000246006:I586T	I	-	2	0	CD93	23013073	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.646000	0.54396	2.242000	0.73789	0.529000	0.55759	ATC		0.597	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		29	103	0	0	0	1	0	29	103				
ACACA	31	broad.mit.edu	37	17	35563703	35563703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35563703C>A	ENST00000394406.2	-	32	4021	c.3831G>T	c.(3829-3831)gaG>gaT	p.E1277D	ACACA_ENST00000335166.5_Missense_Mutation_p.E1199D|ACACA_ENST00000360679.3_Missense_Mutation_p.E1219D|ACACA_ENST00000353139.5_Missense_Mutation_p.E1314D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1277					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACCTTATCCTCATCATAAA	0.438																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3940-3942)gaG>gaT		acetyl-CoA carboxylase alpha	Biotin(DB00121)						117.0	96.0	103.0					17																	35563703		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35563703C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3831G>T	17.37:g.35563703C>A	ENSP00000377928:p.Glu1277Asp					ACACA_ENST00000335166.5_Missense_Mutation_p.E1199D|ACACA_ENST00000360679.3_Missense_Mutation_p.E1219D|ACACA_ENST00000394406.2_Missense_Mutation_p.E1277D	p.E1314D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			32	4423	-		Breast(25;0.00157)|Ovarian(249;0.15)	1277					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3942G>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	9.324	1.058908	0.19987	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.72	4.63	0.57726	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	M	0.62154	1.92	0.80722	D	1	P;B;B	0.40553	0.721;0.002;0.001	B;B;B	0.42030	0.373;0.02;0.011	T	0.11690	-1.0577	10	0.14656	T	0.56	-18.2559	10.5099	0.44855	0.0:0.1328:0.0:0.8672	.	1314;1277;1219	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	D	1314;1219;1277;1301;1199;25	ENSP00000344789:E1314D;ENSP00000353898:E1219D;ENSP00000377928:E1277D;ENSP00000335323:E1199D	ENSP00000335323:E1199D	E	-	3	2	ACACA	32637816	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	0.824000	0.27379	0.413000	0.25759	-0.550000	0.04213	GAG		0.438	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		5	44	1	0	0.184627	1	0.186383	5	44				
TRMT61A	115708	broad.mit.edu	37	14	103996558	103996558	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103996558G>A	ENST00000389749.4	+	2	350	c.243G>A	c.(241-243)ccG>ccA	p.P81P	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	81						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						TGAACCTGCCGCACCGCACGC	0.632																																						ENST00000389749.4																			0				skin(1)	1						c.(241-243)ccG>ccA		tRNA methyltransferase 61 homolog A (S. cerevisiae)							80.0	89.0	86.0					14																	103996558		2185	4284	6469	SO:0001819	synonymous_variant	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:103996558G>A	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.243G>A	14.37:g.103996558G>A							p.P81P	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN			2	350	+			81					A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	c.243G>A	CCDS41994.1																																																																																				0.632	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		29	56	0	0	0	1	0	29	56				
DST	667	broad.mit.edu	37	6	56417281	56417281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56417281C>T	ENST00000361203.3	-	57	15683	c.15676G>A	c.(15676-15678)Gca>Aca	p.A5226T	DST_ENST00000244364.6_Missense_Mutation_p.A2814T|DST_ENST00000370769.4_Missense_Mutation_p.A5228T|DST_ENST00000446842.2_Missense_Mutation_p.A4902T|DST_ENST00000421834.2_Missense_Mutation_p.A3140T|DST_ENST00000370788.2_Missense_Mutation_p.A3140T|DST_ENST00000370754.5_Missense_Mutation_p.A5406T|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5226					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGCTTGCCATGAGGGCT	0.433																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16216-16218)Gca>Aca		dystonin							63.0	60.0	61.0					6																	56417281		1876	4107	5983	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417281C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15676G>A	6.37:g.56417281C>T	ENSP00000354508:p.Ala5226Thr					DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.A5228T|DST_ENST00000421834.2_Missense_Mutation_p.A3140T|DST_ENST00000370788.2_Missense_Mutation_p.A3140T|DST_ENST00000244364.6_Missense_Mutation_p.A2814T|DST_ENST00000361203.3_Missense_Mutation_p.A5226T|DST_ENST00000446842.2_Missense_Mutation_p.A4902T	p.A5406T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16215	-	Lung NSC(77;0.103)		5226					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16216G>A		.	.	.	.	.	.	.	.	.	.	C	8.387	0.838858	0.16891	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	6.17	3.0	0.34707	.	0.792747	0.11123	N	0.597239	T	0.09069	0.0224	L	0.28192	0.835	0.22968	N	0.9985	B;B;B;B;B	0.19331	0.016;0.007;0.035;0.0;0.029	B;B;B;B;B	0.24006	0.003;0.013;0.05;0.001;0.02	T	0.29701	-1.0003	9	0.13108	T	0.6	.	7.4781	0.27390	0.0:0.5872:0.0:0.4128	.	3140;5228;5406;5226;2814	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2814;5406;5228;3140;4902;3140;5226	ENSP00000244364:A2814T;ENSP00000359790:A5406T;ENSP00000359805:A5228T;ENSP00000400883:A3140T;ENSP00000393645:A4902T;ENSP00000359824:A3140T;ENSP00000354508:A5226T	ENSP00000244364:A2814T	A	-	1	0	DST	56525240	0.004000	0.15560	0.310000	0.25168	0.886000	0.51366	0.269000	0.18589	0.911000	0.36747	0.655000	0.94253	GCA		0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		20	26	0	0	0	1	0	20	26				
MAB21L3	126868	broad.mit.edu	37	1	116666974	116666974	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116666974C>T	ENST00000369500.3	+	4	742	c.477C>T	c.(475-477)ctC>ctT	p.L159L	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	159										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCTGTCACCTCTCAGGTGAGC	0.502																																						ENST00000369500.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(475-477)ctC>ctT		mab-21-like 3 (C. elegans)							75.0	73.0	74.0					1																	116666974		2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116666974C>T	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.477C>T	1.37:g.116666974C>T						MAB21L3_ENST00000464946.1_3'UTR	p.L159L	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN			4	742	+			159					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.477C>T	CCDS886.1																																																																																				0.502	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		19	30	0	0	0	1	0	19	30				
RIPK1	8737	broad.mit.edu	37	6	3111146	3111146	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3111146G>A	ENST00000259808.4	+	10	1984	c.1686G>A	c.(1684-1686)acG>acA	p.T562T	RIPK1_ENST00000541791.1_Silent_p.T516T|RIPK1_ENST00000380409.2_Silent_p.T562T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	562	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCACAAATACGAACTTCAAAG	0.408																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(1684-1686)acG>acA		receptor (TNFRSF)-interacting serine-threonine kinase 1							122.0	117.0	119.0					6																	3111146		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3111146G>A	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1686G>A	6.37:g.3111146G>A						RIPK1_ENST00000380409.2_Silent_p.T562T|RIPK1_ENST00000541791.1_Silent_p.T516T	p.T562T			Q13546	RIPK1_HUMAN			10	1984	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	562			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.1686G>A	CCDS4482.1																																																																																				0.408	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		37	62	0	0	0	1	0	37	62				
CYP1A1	1543	broad.mit.edu	37	15	75014932	75014932	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75014932G>A	ENST00000379727.3	-	2	705	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CYP1A1_ENST00000395048.2_Silent_p.V169V|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.V169V|CYP1A1_ENST00000395049.4_Silent_p.V169V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	169					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	TGCTTATCAGGACCTCAGCCT	0.547									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(505-507)gtC>gtT		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						80.0	75.0	77.0					15																	75014932		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014932G>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.507C>T	15.37:g.75014932G>A						CYP1A1_ENST00000395049.4_Silent_p.V169V|CYP1A1_ENST00000395048.2_Silent_p.V169V|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.V169V	p.V169V			P04798	CP1A1_HUMAN			2	705	-			169					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.507C>T	CCDS10268.1																																																																																				0.547	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		37	70	0	0	0	1	0	37	70				
RANBP6	26953	broad.mit.edu	37	9	6014625	6014625	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6014625T>C	ENST00000259569.5	-	1	993	c.983A>G	c.(982-984)gAc>gGc	p.D328G	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	328					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTACCCAGTCCTCATCATC	0.418																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(982-984)gAc>gGc		RAN binding protein 6							84.0	78.0	80.0					9																	6014625		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014625T>C	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.983A>G	9.37:g.6014625T>C	ENSP00000259569:p.Asp328Gly					RANBP6_ENST00000485372.1_Intron	p.D328G	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	993	-		Acute lymphoblastic leukemia(23;0.158)	328					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.983A>G	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899482	0.33535	.	.	ENSG00000137040	ENST00000259569	T	0.68903	-0.36	4.33	4.33	0.51752	Armadillo-like helical (1);Armadillo-type fold (1);	0.049824	0.85682	D	0.000000	T	0.59595	0.2205	L	0.46157	1.445	0.52099	D	0.999943	B	0.17268	0.021	B	0.20384	0.029	T	0.60840	-0.7183	10	0.56958	D	0.05	-8.4913	12.1124	0.53846	0.0:0.0:0.0:1.0	.	328	O60518	RNBP6_HUMAN	G	328	ENSP00000259569:D328G	ENSP00000259569:D328G	D	-	2	0	RANBP6	6004625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.730000	0.74780	2.176000	0.68965	0.528000	0.53228	GAC		0.418	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		5	64	0	0	0	1	0	5	64				
LIN9	286826	broad.mit.edu	37	1	226453982	226453982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226453982G>A	ENST00000328205.5	-	9	1461	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	LIN9_ENST00000481685.1_Missense_Mutation_p.R271W|LIN9_ENST00000366801.1_Missense_Mutation_p.R255W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	290					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.R306W(4)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CGAGAAGGCCGCTGTTTTTGT	0.338																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			4	Substitution - Missense(4)	p.R306W(4)	endometrium(2)|large_intestine(1)|prostate(1)	breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(916-918)Cgg>Tgg		lin-9 homolog (C. elegans)							60.0	61.0	61.0					1																	226453982		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226453982G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.916C>T	1.37:g.226453982G>A	ENSP00000329102:p.Arg306Trp					LIN9_ENST00000366801.1_Missense_Mutation_p.R255W|LIN9_ENST00000481685.1_Missense_Mutation_p.R271W	p.R306W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	9	1461	-	Breast(184;0.158)		290					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.916C>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294073	0.60086	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.59	4.67	0.58626	.	0.054512	0.64402	D	0.000001	T	0.76644	0.4016	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.998	T	0.78362	-0.2233	9	0.72032	D	0.01	.	9.7233	0.40317	0.0713:0.0:0.7911:0.1375	.	271;290;440	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	W	266;306;361;255;271;440	.	ENSP00000329102:R306W	R	-	1	2	LIN9	224520605	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	4.565000	0.60836	2.648000	0.89879	0.561000	0.74099	CGG		0.338	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		17	15	0	0	0	1	0	17	15				
RBL2	5934	broad.mit.edu	37	16	53496517	53496517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53496517G>A	ENST00000262133.6	+	11	1647	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E288K	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	504	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAGTATTAGAATCTGTTAT	0.323																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1510-1512)Gaa>Aaa		retinoblastoma-like 2 (p130)							64.0	69.0	67.0					16																	53496517		2198	4298	6496	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53496517G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1510G>A	16.37:g.53496517G>A	ENSP00000262133:p.Glu504Lys					RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E288K	p.E504K	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			11	1647	+			504			Domain A.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.1510G>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648362	0.87958	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.90504	-2.68;-2.68;-2.68	5.8	5.8	0.92144	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.049225	0.85682	D	0.000000	D	0.95611	0.8573	M	0.78916	2.43	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.91635	0.994;0.999;0.999;0.996	D	0.95485	0.8564	10	0.87932	D	0	-18.2923	20.0567	0.97653	0.0:0.0:1.0:0.0	.	288;504;214;504	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	K	504;430;214;288	ENSP00000262133:E504K;ENSP00000443744:E430K;ENSP00000444685:E288K	ENSP00000262133:E504K	E	+	1	0	RBL2	52054018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.516000	0.90552	2.752000	0.94435	0.650000	0.86243	GAA		0.323	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		23	33	0	0	0	1	0	23	33				
UBE3B	89910	broad.mit.edu	37	12	109926386	109926386	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109926386C>A	ENST00000342494.3	+	7	1052	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	UBE3B_ENST00000434735.2_Missense_Mutation_p.L153M|UBE3B_ENST00000536398.1_Missense_Mutation_p.L153M|UBE3B_ENST00000340074.5_Missense_Mutation_p.L153M|UBE3B_ENST00000537063.1_Missense_Mutation_p.L153M|UBE3B_ENST00000540230.1_Missense_Mutation_p.L153M|UBE3B_ENST00000280774.5_Missense_Mutation_p.L153M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCCTGAAATCCTGCAGGACTC	0.468																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(457-459)Ctg>Atg		ubiquitin protein ligase E3B							353.0	328.0	336.0					12																	109926386		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109926386C>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.457C>A	12.37:g.109926386C>A	ENSP00000340596:p.Leu153Met					UBE3B_ENST00000537063.1_Missense_Mutation_p.L153M|UBE3B_ENST00000540230.1_Missense_Mutation_p.L153M|UBE3B_ENST00000280774.5_Missense_Mutation_p.L153M|UBE3B_ENST00000340074.5_Missense_Mutation_p.L153M|UBE3B_ENST00000536398.1_Missense_Mutation_p.L153M|UBE3B_ENST00000434735.2_Missense_Mutation_p.L153M	p.L153M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			7	1052	+			153					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.457C>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591078	0.46214	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.31	-5.86	0.02304	.	0.066856	0.64402	D	0.000010	T	0.37073	0.0990	L	0.51422	1.61	0.45129	D	0.998148	P;D;D	0.71674	0.939;0.998;0.998	P;D;D	0.65443	0.567;0.935;0.935	T	0.34700	-0.9818	10	0.37606	T	0.19	-37.2183	17.6291	0.88102	0.0:0.6733:0.0:0.3267	.	153;153;153	Q7Z3V4;Q7Z3V4-3;F5H6D6	UBE3B_HUMAN;.;.	M	153	ENSP00000391529:L153M;ENSP00000280774:L153M;ENSP00000440585:L153M;ENSP00000443131:L153M;ENSP00000340596:L153M;ENSP00000342614:L153M;ENSP00000443565:L153M;ENSP00000437694:L153M	ENSP00000280774:L153M	L	+	1	2	UBE3B	108410769	0.847000	0.29606	0.012000	0.15200	0.873000	0.50193	-0.093000	0.11111	-1.151000	0.02836	-1.202000	0.01658	CTG		0.468	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		9	372	1	0	0.0581538	1	0.0593651	9	372				
AMBRA1	55626	broad.mit.edu	37	11	46563858	46563858	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46563858G>T	ENST00000458649.2	-	7	2127	c.1709C>A	c.(1708-1710)gCt>gAt	p.A570D	AMBRA1_ENST00000533727.1_Missense_Mutation_p.A480D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A570D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A480D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	570					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATTGTGGCAAGCACGACAGCG	0.572																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1708-1710)gCt>gAt		autophagy/beclin-1 regulator 1							129.0	104.0	112.0					11																	46563858		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46563858G>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1709C>A	11.37:g.46563858G>T	ENSP00000415327:p.Ala570Asp					AMBRA1_ENST00000534300.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A570D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A480D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A570D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A480D	p.A570D			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	2127	-			570					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.1709C>A		.	.	.	.	.	.	.	.	.	.	G	17.36	3.370651	0.61624	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.76839	-0.85;-1.05;-0.55;-0.68;-0.55;-0.71;-0.68	5.73	5.73	0.89815	.	0.047154	0.85682	D	0.000000	D	0.82309	0.5009	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.76494	0.986;0.997;0.997;0.992;0.999;0.992	P;D;D;P;D;P	0.67382	0.654;0.913;0.913;0.876;0.951;0.876	D	0.84204	0.0452	10	0.87932	D	0	.	19.904	0.97001	0.0:0.0:1.0:0.0	.	570;570;570;480;480;480	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	D	480;480;570;570;570;480;570;570	ENSP00000318313:A480D;ENSP00000433372:A480D;ENSP00000431926:A570D;ENSP00000410899:A570D;ENSP00000298834:A570D;ENSP00000415327:A570D;ENSP00000433945:A570D	ENSP00000298834:A570D	A	-	2	0	AMBRA1	46520434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.689000	0.91719	0.655000	0.94253	GCT		0.572	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		4	86	1	0	4.096e-09	1	4.95403e-09	4	86				
FIGNL1	63979	broad.mit.edu	37	7	50513423	50513423	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50513423T>G	ENST00000419119.1	-	2	3116	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	FIGNL1_ENST00000395556.2_Missense_Mutation_p.K521N|FIGNL1_ENST00000356889.4_Missense_Mutation_p.K521N|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K521N			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	521					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAATTCTGTTTTTATCCTTC	0.403																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1561-1563)aaA>aaC		fidgetin-like 1							86.0	88.0	87.0					7																	50513423		2203	4299	6502	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513423T>G	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1563A>C	7.37:g.50513423T>G	ENSP00000410811:p.Lys521Asn					FIGNL1_ENST00000433017.1_Missense_Mutation_p.K521N|FIGNL1_ENST00000356889.4_Missense_Mutation_p.K521N|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K521N	p.K521N			Q6PIW4	FIGL1_HUMAN			2	3116	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	521					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1563A>C	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492173	0.64074	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	6.17	1.12	0.20585	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92623	0.6109	10	0.87932	D	0	-19.3686	9.0905	0.36607	0.0:0.2966:0.0:0.7034	.	521	Q6PIW4	FIGL1_HUMAN	N	521	ENSP00000349356:K521N;ENSP00000378924:K521N;ENSP00000399997:K521N;ENSP00000410811:K521N	ENSP00000349356:K521N	K	-	3	2	FIGNL1	50480917	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	0.925000	0.28791	0.170000	0.19704	0.533000	0.62120	AAA		0.403	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		101	60	0	0	0	1	0	101	60				
ATG2B	55102	broad.mit.edu	37	14	96784097	96784097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96784097C>A	ENST00000359933.4	-	19	3868	c.2975G>T	c.(2974-2976)aGt>aTt	p.S992I		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	992					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATGAGCTGACTGGCTACTGA	0.348																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2974-2976)aGt>aTt		autophagy related 2B							100.0	95.0	97.0					14																	96784097		1832	4100	5932	SO:0001583	missense	55102							g.chr14:96784097C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2975G>T	14.37:g.96784097C>A	ENSP00000353010:p.Ser992Ile						p.S992I	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	19	3868	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	992					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2975G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	33	5.247075	0.95305	.	.	ENSG00000066739	ENST00000359933	T	0.35605	1.3	5.54	5.54	0.83059	.	0.141530	0.46145	U	0.000305	T	0.60444	0.2269	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.61222	-0.7106	10	0.87932	D	0	.	19.8585	0.96775	0.0:1.0:0.0:0.0	.	992	Q96BY7	ATG2B_HUMAN	I	992	ENSP00000353010:S992I	ENSP00000353010:S992I	S	-	2	0	ATG2B	95853850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.760000	0.94817	0.655000	0.94253	AGT		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		38	64	1	0	1.30998e-17	1	1.70068e-17	38	64				
TRAPPC4	51399	broad.mit.edu	37	11	118889933	118889933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889933C>A	ENST00000533632.1	+	2	620	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	TRAPPC4_ENST00000434101.2_Intron|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000528230.1_Intron|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.L86M|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000525303.1_Intron|RPS25_ENST00000527673.1_5'Flank|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.L86M	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	86					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GCTGGAGTATCTGGGTAACCC	0.552																																						ENST00000533632.1																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(256-258)Ctg>Atg		trafficking protein particle complex 4							138.0	113.0	122.0					11																	118889933		2200	4295	6495	SO:0001583	missense	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118889933C>A	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.256C>A	11.37:g.118889933C>A	ENSP00000436005:p.Leu86Met					TRAPPC4_ENST00000533058.1_Missense_Mutation_p.L86M|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.L86M|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000528230.1_Intron|TRAPPC4_ENST00000525303.1_Intron	p.L86M	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	2	620	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	86					A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	c.256C>A	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533374	0.85812	.	.	ENSG00000196655	ENST00000533632;ENST00000359005;ENST00000533058	T;T;T	0.28666	1.6;1.6;1.6	5.86	4.95	0.65309	Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.80982	2.52	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.968	D;D;P	0.72338	0.919;0.977;0.811	T	0.62539	-0.6833	10	0.54805	T	0.06	-11.3325	14.835	0.70175	0.0:0.9312:0.0:0.0688	.	86;86;86	B4DF86;Q9Y296;B4DF36	.;TPPC4_HUMAN;.	M	86	ENSP00000436005:L86M;ENSP00000351896:L86M;ENSP00000432920:L86M	ENSP00000351896:L86M	L	+	1	2	TRAPPC4	118395143	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	1.161000	0.31773	1.497000	0.48584	0.655000	0.94253	CTG		0.552	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		21	29	1	0	8.10497e-08	1	9.61437e-08	21	29				
OR1J2	26740	broad.mit.edu	37	9	125273822	125273822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125273822G>A	ENST00000335302.5	+	1	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCTGTGGTGTCTCTCTA	0.488																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(742-744)Gtg>Atg		olfactory receptor, family 1, subfamily J, member 2							234.0	194.0	208.0					9																	125273822		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273822G>A		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.742G>A	9.37:g.125273822G>A	ENSP00000335575:p.Val248Met						p.V248M	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	742	+			248					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.742G>A	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399156	0.42512	.	.	ENSG00000197233	ENST00000335302	T	0.00364	7.81	4.77	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36034	U	0.002831	T	0.01592	0.0051	H	0.96996	3.92	0.23765	N	0.996903	D	0.60575	0.988	D	0.64595	0.927	T	0.10451	-1.0629	10	0.87932	D	0	.	14.2015	0.65707	0.0:0.1507:0.8492:0.0	.	248	Q8NGS2	OR1J2_HUMAN	M	248	ENSP00000335575:V248M	ENSP00000335575:V248M	V	+	1	0	OR1J2	124313643	1.000000	0.71417	0.143000	0.22291	0.371000	0.29859	3.149000	0.50655	1.227000	0.43598	0.545000	0.68477	GTG		0.488	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			52	95	0	0	0	1	0	52	95				
SGK223	157285	broad.mit.edu	37	8	8175940	8175940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8175940G>A	ENST00000520004.1	-	6	4209	c.3945C>T	c.(3943-3945)ggC>ggT	p.G1315G	SGK223_ENST00000330777.4_Silent_p.G1315G			Q86YV5	SG223_HUMAN		1319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H. {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCTTGGCCTCGCCGATGCGGA	0.711																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3943-3945)ggC>ggT									26.0	29.0	28.0					8																	8175940		2035	4175	6210	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175940G>A																												ENST00000520004.1:c.3945C>T	8.37:g.8175940G>A						SGK223_ENST00000330777.4_Silent_p.G1315G	p.G1315G			Q86YV5	SG223_HUMAN			6	4209	-			1315			Protein kinase.		Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.3945C>T	CCDS43706.1																																																																																				0.711	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			23	29	0	0	0	1	0	23	29				
FREM2	341640	broad.mit.edu	37	13	39422740	39422740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39422740G>A	ENST00000280481.7	+	8	6528	c.6312G>A	c.(6310-6312)atG>atA	p.M2104I	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2104					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTTCGCATGCCTATGAACG	0.463																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6310-6312)atG>atA		FRAS1 related extracellular matrix protein 2							106.0	103.0	104.0					13																	39422740		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39422740G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6312G>A	13.37:g.39422740G>A	ENSP00000280481:p.Met2104Ile					FREM2_ENST00000482551.1_3'UTR	p.M2104I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	8	6528	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2104					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6312G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815204	0.90790	.	.	ENSG00000150893	ENST00000280481	T	0.27104	1.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.89095	3.005	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79784	0.993;0.978	T	0.64841	-0.6312	10	0.51188	T	0.08	.	19.389	0.94573	0.0:0.0:1.0:0.0	.	2104;2104	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	I	2104	ENSP00000280481:M2104I	ENSP00000280481:M2104I	M	+	3	0	FREM2	38320740	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.791000	0.99081	2.608000	0.88229	0.650000	0.86243	ATG		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		22	29	0	0	0	1	0	22	29				
MGA	23269	broad.mit.edu	37	15	42058262	42058262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058262G>A	ENST00000570161.1	+	23	7982	c.7982G>A	c.(7981-7983)gGa>gAa	p.G2661E	MGA_ENST00000566586.1_Missense_Mutation_p.G2452E|MGA_ENST00000545763.1_Missense_Mutation_p.G2452E|MGA_ENST00000219905.7_Missense_Mutation_p.G2661E|MGA_ENST00000389936.4_Missense_Mutation_p.G2622E			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCACAGAGGGAGGTTTGGTA	0.368																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7981-7983)gGa>gAa		MGA, MAX dimerization protein							91.0	86.0	88.0					15																	42058262		1871	4122	5993	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058262G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7982G>A	15.37:g.42058262G>A	ENSP00000457035:p.Gly2661Glu					MGA_ENST00000389936.4_Missense_Mutation_p.G2622E|MGA_ENST00000566586.1_Missense_Mutation_p.G2452E|MGA_ENST00000570161.1_Missense_Mutation_p.G2661E|MGA_ENST00000545763.1_Missense_Mutation_p.G2452E	p.G2661E	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8163	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2622					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7982G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	3.776	-0.046693	0.07407	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83075	-1.65;-1.68;-1.66	5.38	3.02	0.34903	.	0.270090	0.25820	N	0.028100	T	0.59046	0.2165	N	0.08118	0	0.26183	N	0.979707	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.43196	-0.9406	10	0.08179	T	0.78	.	4.502	0.11869	0.5045:0.1695:0.326:0.0	.	2452;2661	F5H7K2;E7ENI0	.;.	E	2661;2622;2452	ENSP00000219905:G2661E;ENSP00000374586:G2622E;ENSP00000442467:G2452E	ENSP00000219905:G2661E	G	+	2	0	MGA	39845554	1.000000	0.71417	0.955000	0.39395	0.836000	0.47400	0.944000	0.29043	0.511000	0.28236	0.655000	0.94253	GGA		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		30	53	0	0	0	1	0	30	53				
CUL9	23113	broad.mit.edu	37	6	43190124	43190124	+	Missense_Mutation	SNP	C	C	T	rs376259019		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43190124C>T	ENST00000252050.4	+	36	7001	c.6917C>T	c.(6916-6918)gCg>gTg	p.A2306V	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.A2196V|CUL9_ENST00000372647.2_Missense_Mutation_p.A2278V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2306					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATCACCAGGCGCGGGTGAGT	0.602																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(6916-6918)gCg>gTg		cullin 9							81.0	80.0	81.0					6																	43190124		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43190124C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6917C>T	6.37:g.43190124C>T	ENSP00000252050:p.Ala2306Val					CUL9_ENST00000372647.2_Missense_Mutation_p.A2278V|CUL9_ENST00000354495.3_Missense_Mutation_p.A2196V|RP3-330M21.5_ENST00000500590.1_RNA	p.A2306V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			36	7001	+			2306					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.6917C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025499	0.93518	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74421	-0.84;-0.84;-0.72	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.32530	0.975	0.54753	D	0.999982	D;D;D	0.76494	0.999;0.994;0.994	P;P;P	0.62298	0.9;0.675;0.675	T	0.79145	-0.1924	10	0.87932	D	0	-16.0677	18.1015	0.89507	0.0:1.0:0.0:0.0	.	2196;2278;2306	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	2306;2196;2278	ENSP00000252050:A2306V;ENSP00000346490:A2196V;ENSP00000361730:A2278V	ENSP00000252050:A2306V	A	+	2	0	CUL9	43298102	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	5.720000	0.68470	2.265000	0.75225	0.462000	0.41574	GCG		0.602	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		18	31	0	0	0	1	0	18	31				
IL18RAP	8807	broad.mit.edu	37	2	103068626	103068626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068626G>A	ENST00000264260.2	+	12	2374	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	IL18RAP_ENST00000409369.1_Silent_p.Q453Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	595					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAGCTCCCAGCCTAAGGAAT	0.507																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1783-1785)caG>caA		interleukin 18 receptor accessory protein							66.0	75.0	72.0					2																	103068626		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068626G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1785G>A	2.37:g.103068626G>A						IL18RAP_ENST00000409369.1_Silent_p.Q453Q	p.Q595Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2374	+			595					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1785G>A	CCDS2061.1																																																																																				0.507	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		30	65	0	0	0	1	0	30	65				
COASY	80347	broad.mit.edu	37	17	40717044	40717044	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40717044C>T	ENST00000393818.2	+	5	1737	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	RP11-400F19.8_ENST00000585572.1_RNA|MLX_ENST00000435881.2_5'Flank|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000449624.1_Silent_p.G132G|COASY_ENST00000421097.2_Silent_p.G427G|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000590958.1_Silent_p.G456G|COASY_ENST00000420359.1_Silent_p.G427G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	427	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGGTCCTAGGCAGCCGGGTGT	0.532																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(1279-1281)ggC>ggT		CoA synthase							117.0	116.0	116.0					17																	40717044		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40717044C>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1281C>T	17.37:g.40717044C>T						COASY_ENST00000420359.1_Silent_p.G427G|COASY_ENST00000449624.1_Silent_p.G132G|COASY_ENST00000590958.1_Silent_p.G456G|COASY_ENST00000421097.2_Silent_p.G427G	p.G427G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	5	1737	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	427			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.1281C>T	CCDS11429.1																																																																																				0.532	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		8	80	0	0	0	1	0	8	80				
CBX4	8535	broad.mit.edu	37	17	77809109	77809109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77809109G>A	ENST00000269397.4	-	5	509	c.332C>T	c.(331-333)gCg>gTg	p.A111V	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	111	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCCCCTGCGCGCCCAAATC	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(331-333)gCg>gTg		chromobox homolog 4							80.0	76.0	78.0					17																	77809109		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77809109G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.332C>T	17.37:g.77809109G>A	ENSP00000269397:p.Ala111Val		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.A111V	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	509	-			111			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.332C>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	g	12.35	1.911305	0.33721	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	4.16	2.08	0.27032	.	2.276560	0.02422	U	0.082696	T	0.34164	0.0888	N	0.08118	0	0.30710	N	0.749359	B	0.13594	0.008	B	0.06405	0.002	T	0.32561	-0.9902	9	0.30078	T	0.28	.	14.3336	0.66574	0.0:0.4225:0.5775:0.0	.	111	O00257	CBX4_HUMAN	V	111	.	ENSP00000269397:A111V	A	-	2	0	CBX4	75423704	0.039000	0.19947	0.824000	0.32777	0.767000	0.43475	2.476000	0.45171	0.222000	0.20900	0.298000	0.19748	GCG		0.657	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		21	30	0	0	0	1	0	21	30				
CCER1	196477	broad.mit.edu	37	12	91347739	91347739	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347739A>G	ENST00000358859.2	-	1	1214	c.781T>C	c.(781-783)Ttc>Ctc	p.F261L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	261																	TTGGGACTGAATGCTAGAGAG	0.552																																						ENST00000358859.2																			0											c.(781-783)Ttc>Ctc		coiled-coil glutamate-rich protein 1							239.0	268.0	258.0					12																	91347739		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347739A>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.781T>C	12.37:g.91347739A>G	ENSP00000351727:p.Phe261Leu					CCER1_ENST00000548187.1_Intron	p.F261L	NM_152638.2	NP_689851.1					1	1214	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.781T>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	A	1.607	-0.525089	0.04141	.	.	ENSG00000197651	ENST00000358859	T	0.34275	1.37	4.33	1.84	0.25277	.	.	.	.	.	T	0.20495	0.0493	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.27088	-1.0084	9	0.13853	T	0.58	-1.7441	5.5479	0.17073	0.7366:0.0:0.2634:0.0	.	261	Q8TC90	CL012_HUMAN	L	261	ENSP00000351727:F261L	ENSP00000351727:F261L	F	-	1	0	C12orf12	89871870	0.022000	0.18835	0.010000	0.14722	0.111000	0.19643	1.045000	0.30341	0.677000	0.31305	0.260000	0.18958	TTC		0.552	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		56	384	0	0	0	1	0	56	384				
MND1	84057	broad.mit.edu	37	4	154318427	154318427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154318427G>A	ENST00000504860.1	+	5	406	c.363G>A	c.(361-363)caG>caA	p.Q121Q	MND1_ENST00000240488.3_Silent_p.Q136Q					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AAAGGGAACAGCTAAAGGCAG	0.373																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(406-408)caG>caA		meiotic nuclear divisions 1 homolog (S. cerevisiae)							86.0	84.0	85.0					4																	154318427		2203	4300	6503	SO:0001819	synonymous_variant	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154318427G>A	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.363G>A	4.37:g.154318427G>A						MND1_ENST00000504860.1_Silent_p.Q121Q	p.Q136Q	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			6	497	+	all_hematologic(180;0.093)		136						Silent	SNP	ENST00000504860.1	37	c.408G>A																																																																																					0.373	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		10	7	0	0	0	1	0	10	7				
NT5C1B	93034	broad.mit.edu	37	2	18764135	18764135	+	Splice_Site	SNP	G	G	A	rs148193506	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18764135G>A	ENST00000359846.2	-	7	1277	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Splice_Site_p.Y340Y|NT5C1B_ENST00000600945.1_Splice_Site_p.Y400Y|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.Y400Y	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	400					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTACTTACCGTAGTGATTGA	0.408													G|||	2	0.000399361	0.0	0.0	5008	,	,		20235	0.002		0.0	False		,,,				2504	0.0					ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.e6+1		5'-nucleotidase, cytosolic IB		G	,,,,,,	3,4403	6.2+/-15.9	0,3,2200	121.0	117.0	119.0		1200,1149,1251,1206,1026,1200,1020	-6.2	0.9	2	dbSNP_134	119	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	,,,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,,,	400/611,383/594,417/628,402/613,342/651,400/603,340/551	18764135	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	93034							g.chr2:18764135G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1201+1C>T	2.37:g.18764135G>A						NT5C1B_ENST00000600945.1_Splice_Site_p.Y400_splice|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.Y400_splice|NT5C1B_ENST00000359846.2_Splice_Site_p.Y400_splice	p.Y340_splice	NM_033253.3	NP_150278.2					6	1120	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Splice_Site	SNP	ENST00000359846.2	37	c.1021_splice	CCDS33150.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	7.388	0.630256	0.14257	6.81E-4	0.0	ENSG00000185013	ENST00000418427	.	.	.	6.17	-6.21	0.02065	.	.	.	.	.	T	0.66509	0.2796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69472	-0.5136	4	.	.	.	-26.837	18.5462	0.91047	0.3713:0.0:0.6287:0.0	.	.	.	.	W	55	.	.	R	-	1	2	NT5C1B	18627616	0.605000	0.26941	0.920000	0.36463	0.982000	0.71751	-0.034000	0.12225	-1.001000	0.03434	-0.238000	0.12139	CGG		0.408	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		Silent	5	48	0	0	0	1	0	5	48				
ALOX12B	242	broad.mit.edu	37	17	7983639	7983639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7983639A>G	ENST00000319144.4	-	6	928	c.668T>C	c.(667-669)gTc>gCc	p.V223A	AC129492.6_ENST00000399413.3_Missense_Mutation_p.D107G|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	223	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGGCCGCGGACTTTGAAAGC	0.592										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(667-669)gTc>gCc		arachidonate 12-lipoxygenase, 12R type							78.0	90.0	86.0					17																	7983639		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7983639A>G	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.668T>C	17.37:g.7983639A>G	ENSP00000315167:p.Val223Ala	Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	AC129492.6_ENST00000399413.3_Missense_Mutation_p.D107G	p.V223A	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			6	928	-			223			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.668T>C	CCDS11129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.01|16.01	3.000399|3.000399	0.54147|0.54147	.|.	.|.	ENSG00000214999|ENSG00000179477	ENST00000399413|ENST00000319144	.|D	.|0.89939	.|-2.59	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Lipoxygenase, C-terminal (2);	.|0.734617	.|0.13269	.|N	.|0.400691	D|D	0.83050|0.83050	0.5170|0.5170	L|L	0.36672|0.36672	1.1|1.1	0.23724|0.23724	N|N	0.997016|0.997016	.|B	.|0.21821	.|0.061	.|B	.|0.20184	.|0.028	T|T	0.69844|0.69844	-0.5035|-0.5035	6|9	0.87932|.	D|.	0|.	-9.6382|-9.6382	11.4245|11.4245	0.50003|0.50003	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|223	.|O75342	.|LX12B_HUMAN	G|A	107|223	.|ENSP00000315167:V223A	ENSP00000382345:D107G|.	D|V	+|-	2|2	0|0	AC129492.6|ALOX12B	7924364|7924364	0.894000|0.894000	0.30519|0.30519	0.935000|0.935000	0.37517|0.37517	0.924000|0.924000	0.55760|0.55760	4.793000|4.793000	0.62474|0.62474	1.950000|1.950000	0.56595|0.56595	0.454000|0.454000	0.30748|0.30748	GAC|GTC		0.592	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			24	59	0	0	0	1	0	24	59				
POP4	10775	broad.mit.edu	37	19	30103033	30103033	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30103033G>T	ENST00000585603.1	+	5	2674	c.372G>T	c.(370-372)caG>caT	p.Q124H	POP4_ENST00000221770.3_5'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.Q43H|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	124					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GGCAGCCACAGATGATTCAGG	0.458																																					Melanoma(89;1165 1449 14085 34436 43672)	ENST00000585603.1																			0				breast(1)|endometrium(1)|lung(4)	6						c.(370-372)caG>caT		processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)							116.0	113.0	114.0					19																	30103033		2203	4300	6503	SO:0001583	missense	10775				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	g.chr19:30103033G>T	BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.372G>T	19.37:g.30103033G>T	ENSP00000465213:p.Gln124His					POP4_ENST00000392279.3_Missense_Mutation_p.Q43H|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_5'UTR	p.Q124H			O95707	RPP29_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		5	2674	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		124					Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	ENST00000585603.1	37	c.372G>T	CCDS12416.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300232	0.23650	.	.	ENSG00000105171	ENST00000221770;ENST00000392279	.	.	.	5.68	4.58	0.56647	Rof/RNase P-like (1);Ribonuclease P/MRP, subunit p29 (2);	0.154731	0.64402	D	0.000013	T	0.49795	0.1578	L	0.60455	1.87	0.58432	D	0.999998	B;B	0.20368	0.013;0.044	B;B	0.25291	0.017;0.059	T	0.52601	-0.8554	9	0.45353	T	0.12	-25.3482	5.502	0.16834	0.0766:0.1414:0.6358:0.1463	.	43;124	A8MYC1;O95707	.;RPP29_HUMAN	H	124;43	.	ENSP00000221770:Q124H	Q	+	3	2	POP4	34794873	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	1.539000	0.36104	2.669000	0.90835	0.561000	0.74099	CAG		0.458	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458710.1	NM_006627		4	67	1	0	0.00909568	1	0.00947522	4	67				
NRP1	8829	broad.mit.edu	37	10	33481304	33481304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33481304G>T	ENST00000265371.4	-	14	2492	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	NRP1_ENST00000374867.2_Missense_Mutation_p.S656Y|NRP1_ENST00000374875.1_Missense_Mutation_p.S468Y|NRP1_ENST00000395995.1_Missense_Mutation_p.S656Y			O14786	NRP1_HUMAN	neuropilin 1	656	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTCTTGTGAGAGCCCCAGCC	0.453																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1966-1968)tCt>tAt		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						317.0	294.0	302.0					10																	33481304		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33481304G>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1967C>A	10.37:g.33481304G>T	ENSP00000265371:p.Ser656Tyr					NRP1_ENST00000374867.2_Missense_Mutation_p.S656Y|NRP1_ENST00000395995.1_Missense_Mutation_p.S656Y	p.S656Y			O14786	NRP1_HUMAN			14	2492	-			656			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1967C>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002216	0.74932	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.151998	0.64402	D	0.000013	T	0.10165	0.0249	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.997	D;D;D;D;D	0.71870	0.975;0.958;0.975;0.975;0.909	T	0.00867	-1.1534	10	0.66056	D	0.02	-22.095	20.1338	0.98010	0.0:0.0:1.0:0.0	.	649;656;656;468;656	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	Y	656;468;656;656	ENSP00000265371:S656Y;ENSP00000364009:S468Y;ENSP00000364001:S656Y;ENSP00000379317:S656Y	ENSP00000265371:S656Y	S	-	2	0	NRP1	33521310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.223000	0.65283	2.770000	0.95276	0.655000	0.94253	TCT		0.453	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			108	214	1	0	2.11273e-47	1	2.85583e-47	108	214				
ICAM4	3386	broad.mit.edu	37	19	10398513	10398513	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10398513C>T	ENST00000380770.3	+	2	742	c.696C>T	c.(694-696)ctC>ctT	p.L232L	ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_Silent_p.L232L|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Splice_Site_p.R207C	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	232					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACTGATGCTCGGTGAGGCAC	0.652																																						ENST00000380770.3																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.e2+1		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							57.0	60.0	59.0					19																	10398513		2203	4300	6503	SO:0001630	splice_region_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398513C>T	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.697+1C>T	19.37:g.10398513C>T						ICAM4_ENST00000393717.2_Silent_p.L232L|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Splice_Site_p.R207_splice	p.L232_splice	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		2	742	+			232					A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Splice_Site	SNP	ENST00000380770.3	37	c.697_splice	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371977	0.82573	.	.	ENSG00000105371	ENST00000340992	T	0.26518	1.73	4.82	-5.04	0.02964	.	1.182320	0.06202	N	0.683458	T	0.14527	0.0351	.	.	.	0.38351	D	0.944343	B	0.22414	0.069	B	0.09377	0.004	T	0.32079	-0.9920	9	0.87932	D	0	.	1.4136	0.02297	0.1854:0.2294:0.3731:0.2121	.	207	Q9BWR0	.	C	207	ENSP00000342114:R207C	ENSP00000342114:R207C	R	+	1	0	ICAM4	10259513	0.000000	0.05858	0.031000	0.17742	0.322000	0.28314	-2.345000	0.01097	-0.512000	0.06505	0.561000	0.74099	CGC		0.652	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544	Silent	47	58	0	0	0	1	0	47	58				
PTPRK	5796	broad.mit.edu	37	6	128330384	128330384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:128330384G>T	ENST00000368215.3	-	14	2220	c.2221C>A	c.(2221-2223)Cca>Aca	p.P741T	PTPRK_ENST00000368227.3_Missense_Mutation_p.P742T|PTPRK_ENST00000368226.4_Missense_Mutation_p.P742T|PTPRK_ENST00000368207.3_Missense_Mutation_p.P742T|PTPRK_ENST00000368213.5_Missense_Mutation_p.P742T|PTPRK_ENST00000368210.3_Missense_Mutation_p.P742T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.P742T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	741					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCGGGATCTGGGATCACTTCT	0.373																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2224-2226)Cca>Aca		protein tyrosine phosphatase, receptor type, K							185.0	179.0	181.0					6																	128330384		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128330384G>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2221C>A	6.37:g.128330384G>T	ENSP00000357198:p.Pro741Thr					PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.P742T|PTPRK_ENST00000368215.3_Missense_Mutation_p.P741T|PTPRK_ENST00000368213.5_Missense_Mutation_p.P742T|PTPRK_ENST00000532331.1_Missense_Mutation_p.P742T|PTPRK_ENST00000368207.3_Missense_Mutation_p.P742T|PTPRK_ENST00000368210.3_Missense_Mutation_p.P742T	p.P742T			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	14	2590	-			741					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2224C>A		.	.	.	.	.	.	.	.	.	.	G	16.74	3.207183	0.58343	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08984	3.09;3.07;3.07;3.09;3.07;3.06;3.03	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.29908	0.895	0.80722	D	1	D;P;P;P;D;D	0.89917	1.0;0.61;0.73;0.73;0.998;0.999	D;B;B;B;D;D	0.79108	0.992;0.23;0.406;0.391;0.981;0.991	T	0.30679	-0.9970	10	0.26408	T	0.33	.	18.9351	0.92582	0.0:0.0:1.0:0.0	.	742;742;742;599;741;742	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	T	742;742;742;742;742;741;742;599	ENSP00000357209:P742T;ENSP00000357210:P742T;ENSP00000432973:P742T;ENSP00000357196:P742T;ENSP00000357193:P742T;ENSP00000357198:P741T;ENSP00000357190:P742T	ENSP00000357190:P742T	P	-	1	0	PTPRK	128372077	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.378000	0.97191	2.479000	0.83701	0.551000	0.68910	CCA		0.373	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	97	1	0	0.00448238	1	0.00472561	7	97				
TMEM38A	79041	broad.mit.edu	37	19	16797199	16797199	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16797199T>G	ENST00000187762.2	+	5	746	c.655T>G	c.(655-657)Ttc>Gtc	p.F219V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	219						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTTCACCTTGTTCATGGTGTC	0.557																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(655-657)Ttc>Gtc		transmembrane protein 38A							175.0	130.0	145.0					19																	16797199		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16797199T>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.655T>G	19.37:g.16797199T>G	ENSP00000187762:p.Phe219Val						p.F219V	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			5	746	+			219					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.655T>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	t	24.5	4.537954	0.85917	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.93	4.93	0.64822	.	0.051046	0.85682	D	0.000000	T	0.72795	0.3505	M	0.82823	2.61	0.80722	D	1	P	0.52842	0.956	P	0.53006	0.715	T	0.73531	-0.3953	9	0.27082	T	0.32	-35.0954	13.7641	0.62983	0.0:0.0:0.0:1.0	.	219	Q9H6F2	TM38A_HUMAN	V	219	.	ENSP00000187762:F219V	F	+	1	0	TMEM38A	16658199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.688000	0.84153	1.849000	0.53698	0.482000	0.46254	TTC		0.557	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		3	45	0	0	0	1	0	3	45				
BPNT1	10380	broad.mit.edu	37	1	220246296	220246296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220246296G>T	ENST00000469520.2	-	5	678	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000414869.2_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.L77M|BPNT1_ENST00000354807.3_Missense_Mutation_p.L77M|BPNT1_ENST00000544404.1_Missense_Mutation_p.L22M			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCAGAAGGCAGATCCTAAAGC	0.413																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(229-231)Ctg>Atg		3'(2'), 5'-bisphosphate nucleotidase 1							161.0	145.0	150.0					1																	220246296		1928	4137	6065	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220246296G>T	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.229C>A	1.37:g.220246296G>T	ENSP00000446828:p.Leu77Met					BPNT1_ENST00000544404.1_Missense_Mutation_p.L22M|BPNT1_ENST00000354807.3_Missense_Mutation_p.L77M|BPNT1_ENST00000414869.2_Intron|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.L77M	p.L77M			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	5	678	-			77					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.229C>A	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678047	0.47886	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000480959;ENST00000498237	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.82517	2.595	0.80722	D	1	P;B	0.40731	0.728;0.189	P;B	0.45310	0.476;0.167	T	0.68569	-0.5374	10	0.46703	T	0.11	.	19.7473	0.96257	0.0:0.0:1.0:0.0	.	77;77	A6NF51;O95861	.;BPNT1_HUMAN	M	77;77;77;77;22;22;77	ENSP00000318852:L77M;ENSP00000446828:L77M;ENSP00000346862:L77M;ENSP00000444398:L22M;ENSP00000448740:L22M;ENSP00000449883:L77M	ENSP00000307087:L77M	L	-	1	2	BPNT1	218312919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.956000	0.56722	2.747000	0.94245	0.644000	0.83932	CTG		0.413	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		10	116	1	0	1.76689e-08	1	2.11513e-08	10	116				
TBC1D22A	25771	broad.mit.edu	37	22	47290699	47290699	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290699G>A	ENST00000337137.4	+	7	1023	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R227H|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R208H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	286	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACATCCCTCGCATGAGCCCT	0.502																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(856-858)cGc>cAc		TBC1 domain family, member 22A							215.0	159.0	178.0					22																	47290699		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47290699G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.857G>A	22.37:g.47290699G>A	ENSP00000336724:p.Arg286His					TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R227H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R208H|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R239H	p.R286H	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	7	1023	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	286			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.857G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900023	0.92035	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.06	5.06	0.68205	Rab-GAP/TBC domain (4);	0.056069	0.64402	D	0.000001	T	0.70780	0.3263	H	0.98068	4.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.988;0.988;0.991	T	0.82991	-0.0182	10	0.87932	D	0	.	15.9266	0.79621	0.0:0.0:1.0:0.0	.	286;208;227;286	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	286;239;227;208;239	ENSP00000336724:R286H;ENSP00000370383:R239H;ENSP00000384036:R227H;ENSP00000347932:R208H;ENSP00000385634:R239H	ENSP00000336724:R286H	R	+	2	0	TBC1D22A	45669363	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	7.788000	0.85771	2.355000	0.79922	0.655000	0.94253	CGC		0.502	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		27	45	0	0	0	1	0	27	45				
TMEM8A	58986	broad.mit.edu	37	16	427115	427115	+	Missense_Mutation	SNP	G	G	A	rs202229020		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:427115G>A	ENST00000431232.2	-	4	717	c.557C>T	c.(556-558)aCg>aTg	p.T186M	TMEM8A_ENST00000250930.3_De_novo_Start_InFrame|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	186					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GACCACCCGCGTGACCAGCAG	0.637											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(556-558)aCg>aTg		transmembrane protein 8A		G	MET/THR	0,4404		0,0,2202	93.0	89.0	90.0		557	-2.8	0.0	16		90	1,8597	1.2+/-3.3	0,1,4298	no	missense	TMEM8A	NM_021259.2	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	186/772	427115	1,13001	2202	4299	6501	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:427115G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.557C>T	16.37:g.427115G>A	ENSP00000401338:p.Thr186Met		OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_ENST00000250930.3_De_novo_Start_InFrame|TMEM8A_ENST00000476735.1_5'UTR	p.T186M	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			4	717	-			186					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.557C>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	2.408	-0.336111	0.05278	0.0	1.16E-4	ENSG00000129925	ENST00000431232	T	0.23147	1.92	4.35	-2.78	0.05859	.	1.466410	0.04780	N	0.429567	T	0.10294	0.0252	N	0.03608	-0.345	0.09310	N	0.999999	B	0.19817	0.039	B	0.11329	0.006	T	0.21280	-1.0250	10	0.41790	T	0.15	-1.8578	3.6747	0.08287	0.4215:0.0:0.2081:0.3703	.	186	Q9HCN3	TMM8A_HUMAN	M	186	ENSP00000401338:T186M	ENSP00000401338:T186M	T	-	2	0	TMEM8A	367116	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.007000	0.12810	-0.777000	0.04572	-0.493000	0.04662	ACG		0.637	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		28	34	0	0	0	1	0	28	34				
MAGEH1	28986	broad.mit.edu	37	X	55478845	55478845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55478845C>T	ENST00000342972.1	+	1	308	c.38C>T	c.(37-39)gCg>gTg	p.A13V	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	13	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CGCCGTAATGCGAGAGCCGCA	0.597																																						ENST00000342972.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						c.(37-39)gCg>gTg		melanoma antigen family H, 1							16.0	19.0	18.0					X																	55478845		2202	4296	6498	SO:0001583	missense	28986				apoptosis			g.chrX:55478845C>T	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.38C>T	X.37:g.55478845C>T	ENSP00000343706:p.Ala13Val						p.A13V	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN			1	308	+			13			MAGE.		B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	c.38C>T	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	11.15	1.554241	0.27739	.	.	ENSG00000187601	ENST00000342972	T	0.15952	2.38	3.03	3.03	0.35002	.	0.000000	0.33980	N	0.004369	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.47162	0.54	T	0.17992	-1.0351	10	0.02654	T	1	-0.1582	8.7553	0.34641	0.0:1.0:0.0:0.0	.	13	Q9H213	MAGH1_HUMAN	V	13	ENSP00000343706:A13V	ENSP00000343706:A13V	A	+	2	0	MAGEH1	55495570	0.941000	0.31946	0.053000	0.19242	0.220000	0.24768	2.288000	0.43514	1.793000	0.52555	0.529000	0.55759	GCG		0.597	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		4	4	0	0	0	1	0	4	4				
HAUS1	115106	broad.mit.edu	37	18	43698240	43698240	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43698240A>G	ENST00000282058.6	+	3	379	c.299A>G	c.(298-300)gAc>gGc	p.D100G	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	100					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTTTGGTTGACAGTGCGGTG	0.423																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(298-300)gAc>gGc		HAUS augmin-like complex, subunit 1							121.0	116.0	118.0					18																	43698240		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43698240A>G	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.299A>G	18.37:g.43698240A>G	ENSP00000282058:p.Asp100Gly					HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR	p.D100G	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			3	379	+			100					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.299A>G	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899458	0.72754	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.29	5.29	0.74685	.	0.046027	0.85682	D	0.000000	T	0.75413	0.3846	M	0.66506	2.035	0.58432	D	0.999994	D	0.89917	1.0	D	0.77004	0.989	T	0.74682	-0.3583	9	0.36615	T	0.2	-18.1423	13.0432	0.58913	1.0:0.0:0.0:0.0	.	100	Q96CS2	HAUS1_HUMAN	G	100	.	ENSP00000282058:D100G	D	+	2	0	HAUS1	41952238	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.074000	0.57577	2.120000	0.65058	0.528000	0.53228	GAC		0.423	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		49	60	0	0	0	1	0	49	60				
FXR2	9513	broad.mit.edu	37	17	7496313	7496313	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496313G>T	ENST00000250113.7	-	13	1851	c.1517C>A	c.(1516-1518)tCt>tAt	p.S506Y	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	506						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGAGCTAATAGATGAAGAATT	0.597																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1516-1518)tCt>tAt		fragile X mental retardation, autosomal homolog 2							37.0	39.0	38.0					17																	7496313		1867	4098	5965	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496313G>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1517C>A	17.37:g.7496313G>T	ENSP00000250113:p.Ser506Tyr						p.S506Y	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	13	1851	-			506					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1517C>A	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319730	0.81469	.	.	ENSG00000129245	ENST00000250113	T	0.35236	1.32	5.63	5.63	0.86233	.	0.479145	0.23187	N	0.050956	T	0.52853	0.1760	L	0.47190	1.495	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.50583	-0.8811	10	0.72032	D	0.01	0.1243	17.5333	0.87820	0.0:0.0:1.0:0.0	.	506	P51116	FXR2_HUMAN	Y	506	ENSP00000250113:S506Y	ENSP00000250113:S506Y	S	-	2	0	FXR2	7437038	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.458000	0.80787	2.814000	0.96858	0.655000	0.94253	TCT		0.597	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			22	29	1	0	3.7963e-18	1	4.94062e-18	22	29				
RPGRIP1L	23322	broad.mit.edu	37	16	53691517	53691517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53691517G>T	ENST00000379925.3	-	13	1479	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.L477I	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	477					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAAAAGGAAAGGTCTCCATTT	0.313																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(1429-1431)Ctt>Att		RPGRIP1-like							42.0	43.0	43.0					16																	53691517		2197	4298	6495	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53691517G>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1429C>A	16.37:g.53691517G>T	ENSP00000369257:p.Leu477Ile					RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.L477I	p.L477I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			13	1522	-		all_cancers(37;0.0973)	477					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.1429C>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091548	0.76756	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.79749	-1.13;-1.3	6.16	6.16	0.99307	.	0.195059	0.45361	D	0.000372	D	0.87406	0.6169	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.996;0.996;0.985;1.0	P;P;P;D	0.76575	0.854;0.854;0.821;0.988	D	0.85891	0.1428	10	0.44086	T	0.13	-14.0737	15.2064	0.73183	0.0:0.0:0.8592:0.1408	.	477;477;477;477	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	I	477	ENSP00000369257:L477I;ENSP00000262135:L477I	ENSP00000262135:L477I	L	-	1	0	RPGRIP1L	52249018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.618000	0.61211	2.937000	0.99478	0.650000	0.86243	CTT		0.313	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		16	31	1	0	1.02788e-11	1	1.28409e-11	16	31				
HRH2	3274	broad.mit.edu	37	5	175111286	175111286	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175111286C>T	ENST00000231683.2	+	1	2823	c.1050C>T	c.(1048-1050)gtC>gtT	p.V350V	HRH2_ENST00000377291.2_Silent_p.V350V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	350					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGACAGAAGTCACGGCCCCCC	0.582																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(1048-1050)gtC>gtT		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						71.0	80.0	77.0					5																	175111286		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111286C>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.1050C>T	5.37:g.175111286C>T						HRH2_ENST00000377291.2_Silent_p.V350V	p.V350V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2823	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	350					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.1050C>T	CCDS4395.1																																																																																				0.582	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			37	62	0	0	0	1	0	37	62				
NHS	4810	broad.mit.edu	37	X	17710490	17710490	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17710490G>T	ENST00000380060.3	+	3	1092	c.754G>T	c.(754-756)Gca>Tca	p.A252S	NHS_ENST00000398097.3_Missense_Mutation_p.A75S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	252	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAGCAAAGAGCAGCTGCCCC	0.517																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(754-756)Gca>Tca		Nance-Horan syndrome (congenital cataracts and dental anomalies)							101.0	89.0	93.0					X																	17710490		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17710490G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.754G>T	X.37:g.17710490G>T	ENSP00000369400:p.Ala252Ser					NHS_ENST00000398097.3_Missense_Mutation_p.A75S	p.A252S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			3	1092	+	Hepatocellular(33;0.183)		252					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.754G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869703	0.33069	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.41758	1.02;0.99	5.55	2.82	0.32997	.	0.592354	0.17263	N	0.180687	T	0.17874	0.0429	N	0.04203	-0.255	0.24313	N	0.995075	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.21075	-1.0256	10	0.22109	T	0.4	-2.1766	6.0235	0.19642	0.1619:0.0:0.6864:0.1517	.	252;73;75;252	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	252;75;73	ENSP00000369400:A252S;ENSP00000381170:A75S	ENSP00000369397:A73S	A	+	1	0	NHS	17620411	0.997000	0.39634	0.844000	0.33320	0.914000	0.54420	2.060000	0.41394	0.272000	0.22027	0.600000	0.82982	GCA		0.517	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		43	53	1	0	1.5731e-28	1	2.10252e-28	43	53				
ELP5	23587	broad.mit.edu	37	17	7162168	7162168	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7162168C>A	ENST00000396628.2	+	7	976	c.759C>A	c.(757-759)acC>acA	p.T253T	ELP5_ENST00000356683.2_3'UTR|ELP5_ENST00000574993.1_3'UTR|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.T253T|ELP5_ENST00000354429.2_Silent_p.T253T	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	253					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											CTCATTTGACCTTTAACCTTC	0.512																																						ENST00000396628.2																			0											c.(757-759)acC>acA		elongator acetyltransferase complex subunit 5							117.0	120.0	119.0					17																	7162168		2203	4300	6503	SO:0001819	synonymous_variant	23587							g.chr17:7162168C>A	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.759C>A	17.37:g.7162168C>A						ELP5_ENST00000354429.2_Silent_p.T253T|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.T253T|ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000356683.2_3'UTR	p.T253T	NM_203414.1	NP_981959.1					7	976	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Silent	SNP	ENST00000396628.2	37	c.759C>A	CCDS11094.1																																																																																				0.512	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		19	33	1	0	1.01871e-10	1	1.25892e-10	19	33				
NAA16	79612	broad.mit.edu	37	13	41936259	41936259	+	Silent	SNP	C	C	T	rs543151654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41936259C>T	ENST00000379406.3	+	13	1827	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	NAA16_ENST00000379367.3_Silent_p.Y501Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	501					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGGGGAGATACGGGGATGCCT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20015	0.0		0.0	False		,,,				2504	0.0					ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1501-1503)taC>taT		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							125.0	123.0	124.0					13																	41936259		2203	4300	6503	SO:0001819	synonymous_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41936259C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1503C>T	13.37:g.41936259C>T						NAA16_ENST00000379367.3_Silent_p.Y501Y	p.Y501Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			13	1827	+			501					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	c.1503C>T	CCDS9379.1																																																																																				0.388	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		14	53	0	0	0	1	0	14	53				
ZIC5	85416	broad.mit.edu	37	13	100617767	100617767	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617767T>C	ENST00000267294.4	-	2	2089	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	619					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCATTGAGGTTGGTCACCTG	0.602																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1855-1857)aAc>aGc		Zic family member 5							74.0	73.0	74.0					13																	100617767		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617767T>C	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1856A>G	13.37:g.100617767T>C	ENSP00000267294:p.Asn619Ser						p.N619S	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2089	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		619					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1856A>G	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650724	0.87958	.	.	ENSG00000139800	ENST00000267294	T	0.12672	2.66	6.06	6.06	0.98353	.	.	.	.	.	T	0.35711	0.0941	M	0.61703	1.905	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.02358	-1.1171	9	0.54805	T	0.06	.	16.2888	0.82737	0.0:0.0:0.0:1.0	.	619	Q96T25	ZIC5_HUMAN	S	619	ENSP00000267294:N619S	ENSP00000267294:N619S	N	-	2	0	ZIC5	99415768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.688000	0.61715	2.315000	0.78130	0.533000	0.62120	AAC		0.602	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		7	65	0	0	0	1	0	7	65				
MAN1A1	4121	broad.mit.edu	37	6	119669662	119669662	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119669662G>A	ENST00000368468.3	-	2	1010	c.569C>T	c.(568-570)gCc>gTc	p.A190V	MAN1A1_ENST00000368466.2_Missense_Mutation_p.A190V	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	190					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCGGATGGCGGCGTCGGCGGG	0.662																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(568-570)gCc>gTc		mannosidase, alpha, class 1A, member 1							22.0	29.0	27.0					6																	119669662		2194	4290	6484	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669662G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.569C>T	6.37:g.119669662G>A	ENSP00000357453:p.Ala190Val					MAN1A1_ENST00000368466.2_Missense_Mutation_p.A190V	p.A190V	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	2	1010	-		all_epithelial(87;0.173)	190					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.569C>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692599	0.48202	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.77620	-0.71;-1.11	5.24	3.43	0.39272	.	0.401176	0.26871	N	0.022064	T	0.50786	0.1636	L	0.44542	1.39	0.31689	N	0.642086	B;B	0.28552	0.215;0.013	B;B	0.29353	0.101;0.004	T	0.32134	-0.9918	9	.	.	.	-18.1067	9.4517	0.38729	0.0757:0.0:0.7803:0.144	.	190;190	Q6P052;P33908	.;MA1A1_HUMAN	V	190	ENSP00000357453:A190V;ENSP00000357451:A190V	.	A	-	2	0	MAN1A1	119711361	1.000000	0.71417	0.015000	0.15790	0.270000	0.26580	3.742000	0.55097	0.584000	0.29591	0.455000	0.32223	GCC		0.662	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		13	16	0	0	0	1	0	13	16				
MED12L	116931	broad.mit.edu	37	3	150877651	150877651	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150877651G>A	ENST00000474524.1	+	7	908	c.870G>A	c.(868-870)ctG>ctA	p.L290L	MED12L_ENST00000422248.2_Silent_p.L290L|MED12L_ENST00000309237.4_Silent_p.L290L|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	290						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCCTACCTGTCTCGTCGTC	0.483																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(868-870)ctG>ctA		mediator complex subunit 12-like							184.0	182.0	183.0					3																	150877651		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877651G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.870G>A	3.37:g.150877651G>A						MED12L_ENST00000309237.4_Silent_p.L290L|MED12L_ENST00000422248.2_Silent_p.L290L|MED12L_ENST00000273432.4_Intron	p.L290L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	908	+			290					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.870G>A	CCDS33876.1																																																																																				0.483	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		90	114	0	0	0	1	0	90	114				
CES3	23491	broad.mit.edu	37	16	66997236	66997236	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66997236C>T	ENST00000303334.4	+	2	308	c.237C>T	c.(235-237)caC>caT	p.H79H	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Silent_p.H79H	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	79						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGCCCCACACCCAGCACAGC	0.642																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(235-237)caC>caT		carboxylesterase 3							54.0	59.0	57.0					16																	66997236		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66997236C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.237C>T	16.37:g.66997236C>T						CES3_ENST00000394037.1_Silent_p.H79H	p.H79H	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	2	308	+		Ovarian(137;0.0563)	79					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.237C>T	CCDS10826.1																																																																																				0.642	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		6	70	0	0	0	1	0	6	70				
OTOGL	283310	broad.mit.edu	37	12	80672872	80672872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80672872G>A	ENST00000547103.1	+	25	2833	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	OTOGL_ENST00000458043.2_Missense_Mutation_p.G943R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	943	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACAATATACGGGGACCGACA	0.348																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2827-2829)Ggg>Agg		otogelin-like							201.0	192.0	195.0					12																	80672872		1877	4099	5976	SO:0001583	missense	283310							g.chr12:80672872G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2827G>A	12.37:g.80672872G>A	ENSP00000447211:p.Gly943Arg					OTOGL_ENST00000547103.1_Missense_Mutation_p.G943R	p.G943R	NM_173591.3	NP_775862.3					25	2833	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.2827G>A		.	.	.	.	.	.	.	.	.	.	G	19.56	3.850326	0.71719	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.67523	-0.27;-0.27	5.62	5.62	0.85841	.	.	.	.	.	D	0.88426	0.6433	H	0.96333	3.805	0.58432	D	0.999995	.	.	.	.	.	.	D	0.91624	0.5313	7	0.87932	D	0	.	19.6432	0.95764	0.0:0.0:1.0:0.0	.	.	.	.	R	943	ENSP00000447211:G943R;ENSP00000400895:G943R	ENSP00000400895:G943R	G	+	1	0	OTOGL	79197003	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	7.352000	0.79404	2.641000	0.89580	0.591000	0.81541	GGG		0.348	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		68	76	0	0	0	1	0	68	76				
MUC4	4585	broad.mit.edu	37	3	195487873	195487873	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195487873G>T	ENST00000346145.4	-	15	2061	c.2022C>A	c.(2020-2022)atC>atA	p.I674I	MUC4_ENST00000463781.3_Silent_p.I4910I|MUC4_ENST00000475231.1_Silent_p.I4858I|MUC4_ENST00000349607.4_Silent_p.I623I	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1667					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGTTGGAGATCAAATGTT	0.512																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(14728-14730)atC>atA		mucin 4, cell surface associated							140.0	123.0	129.0					3																	195487873		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195487873G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2022C>A	3.37:g.195487873G>T						MUC4_ENST00000349607.4_Silent_p.I623I|MUC4_ENST00000475231.1_Silent_p.I4858I|MUC4_ENST00000346145.4_Silent_p.I674I	p.I4910I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	16	15189	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1667					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.14730C>A	CCDS3310.1																																																																																				0.512	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		30	57	1	0	4.15321e-07	1	4.86422e-07	30	57				
TAOK2	9344	broad.mit.edu	37	16	29994972	29994972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29994972G>A	ENST00000308893.4	+	13	2452	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.R470Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R297Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R470Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	470					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCACCATCCGAACCGCCTCC	0.587																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1408-1410)cGa>cAa		TAO kinase 2							140.0	154.0	150.0					16																	29994972		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994972G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1409G>A	16.37:g.29994972G>A	ENSP00000310094:p.Arg470Gln					TAOK2_ENST00000543033.1_Missense_Mutation_p.R470Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R470Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R297Q	p.R470Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			13	2452	+			470					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1409G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857673	0.91433	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.41400	1.0;1.0;1.0	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.62209	1.925	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;P;D	0.83275	0.978;0.996;0.958;0.883;0.946	T	0.60115	-0.7326	9	.	.	.	.	18.4014	0.90518	0.0:0.0:1.0:0.0	.	661;297;470;470;470	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	Q	470	ENSP00000310094:R470Q;ENSP00000440336:R470Q;ENSP00000279394:R470Q	.	R	+	2	0	TAOK2	29902473	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	9.430000	0.97488	2.640000	0.89533	0.563000	0.77884	CGA		0.587	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		91	98	0	0	0	1	0	91	98				
PYGB	5834	broad.mit.edu	37	20	25255257	25255257	+	Silent	SNP	C	C	T	rs199968470		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25255257C>T	ENST00000216962.4	+	5	668	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	186					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGCTGCGCTACGGCAACCCCT	0.647																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(556-558)taC>taT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						71.0	71.0	71.0					20																	25255257		2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25255257C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.558C>T	20.37:g.25255257C>T							p.Y186Y	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			5	668	+			186					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.558C>T	CCDS13171.1																																																																																				0.647	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		40	53	0	0	0	1	0	40	53				
FANCA	2175	broad.mit.edu	37	16	89816211	89816211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89816211G>A	ENST00000389301.3	-	32	3196	c.3166C>T	c.(3166-3168)Ctc>Ttc	p.L1056F	FANCA_ENST00000568369.1_Missense_Mutation_p.L1056F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1056					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAGCCTGGAGCCGTCTGCGG	0.587			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(3166-3168)Ctc>Ttc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							64.0	58.0	60.0					16																	89816211		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89816211G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3166C>T	16.37:g.89816211G>A	ENSP00000373952:p.Leu1056Phe					FANCA_ENST00000568369.1_Missense_Mutation_p.L1056F	p.L1056F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	32	3196	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1056					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3166C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977597	0.53720	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.86497	-2.13	4.2	3.24	0.37175	.	0.000000	0.46758	D	0.000274	D	0.91586	0.7342	M	0.76574	2.34	0.38860	D	0.956467	D;P;D	0.89917	0.964;0.918;1.0	P;P;D	0.85130	0.726;0.537;0.997	D	0.91919	0.5546	10	0.72032	D	0.01	-24.6095	9.4601	0.38778	0.1055:0.0:0.8945:0.0	.	33;1056;1056	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	F	1056;33	ENSP00000373952:L1056F	ENSP00000306281:L33F	L	-	1	0	FANCA	88343712	0.993000	0.37304	0.185000	0.23176	0.020000	0.10135	2.129000	0.42055	2.342000	0.79632	0.555000	0.69702	CTC		0.587	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			7	40	0	0	0	1	0	7	40				
FOXD4	2298	broad.mit.edu	37	9	117021	117021	+	Missense_Mutation	SNP	G	G	A	rs564334785		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117021G>A	ENST00000382500.2	-	1	1396	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	367					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCTGATGCCGCTGCTGTTGC	0.687																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(1099-1101)Cgg>Tgg		forkhead box D4							88.0	105.0	99.0					9																	117021		2203	4299	6502	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117021G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.1099C>T	9.37:g.117021G>A	ENSP00000371940:p.Arg367Trp						p.R367W	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1396	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	367					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.1099C>T	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	8.639	0.895592	0.17686	.	.	ENSG00000170122	ENST00000382500	D	0.95137	-3.62	2.41	1.33	0.21861	.	.	.	.	.	D	0.83124	0.5186	N	0.08118	0	0.20196	N	0.99993	P	0.41159	0.74	B	0.26969	0.075	T	0.77451	-0.2583	9	0.72032	D	0.01	.	8.6435	0.33991	0.0:0.2384:0.7616:0.0	.	367	Q12950	FOXD4_HUMAN	W	367	ENSP00000371940:R367W	ENSP00000371940:R367W	R	-	1	2	FOXD4	107021	0.002000	0.14202	0.027000	0.17364	0.242000	0.25591	0.436000	0.21526	1.347000	0.45714	0.473000	0.43528	CGG		0.687	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		32	141	0	0	0	1	0	32	141				
CIRH1A	84916	broad.mit.edu	37	16	69184788	69184788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69184788G>A	ENST00000314423.7	+	8	1160	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	CIRH1A_ENST00000563094.1_Missense_Mutation_p.R328Q|CIRH1A_ENST00000352319.4_Missense_Mutation_p.R328Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	328					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCGCTCTCCGAAAAATCACC	0.537																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(982-984)cGa>cAa		cirrhosis, autosomal recessive 1A (cirhin)							105.0	90.0	95.0					16																	69184788		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69184788G>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.983G>A	16.37:g.69184788G>A	ENSP00000327179:p.Arg328Gln					CIRH1A_ENST00000352319.4_Missense_Mutation_p.R328Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R328Q	p.R328Q			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	8	1017	+			328					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.983G>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203652	0.79127	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.29397	1.57;2.26	5.73	3.73	0.42828	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.184666	0.47455	D	0.000228	T	0.45216	0.1331	L	0.59436	1.845	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69307	0.951;0.927;0.963	T	0.25676	-1.0125	10	0.18710	T	0.47	.	10.9434	0.47287	0.0708:0.1307:0.7985:0.0	.	328;328;328	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	Q	328	ENSP00000327179:R328Q;ENSP00000339164:R328Q	ENSP00000327179:R328Q	R	+	2	0	CIRH1A	67742289	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.729000	0.91490	0.724000	0.32296	0.514000	0.50259	CGA		0.537	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		49	69	0	0	0	1	0	49	69				
OR1K1	392392	broad.mit.edu	37	9	125563230	125563230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125563230G>A	ENST00000277309.2	+	1	861	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGTGGCCACTGTCATGTACAC	0.592																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(829-831)Gtc>Atc		olfactory receptor, family 1, subfamily K, member 1							110.0	98.0	102.0					9																	125563230		2203	4300	6503	SO:0001583	missense	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563230G>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.829G>A	9.37:g.125563230G>A	ENSP00000277309:p.Val277Ile						p.V277I	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	861	+			277					B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.829G>A	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795630	0.50208	.	.	ENSG00000165204	ENST00000277309	T	0.00249	8.44	4.49	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35179	U	0.003392	T	0.00271	0.0008	L	0.49455	1.56	0.24219	N	0.99545	P	0.34934	0.476	P	0.47786	0.557	T	0.24012	-1.0172	10	0.54805	T	0.06	.	5.8529	0.18704	0.1782:0.1582:0.6635:0.0	.	277	Q8NGR3	OR1K1_HUMAN	I	277	ENSP00000277309:V277I	ENSP00000277309:V277I	V	+	1	0	OR1K1	124603051	0.326000	0.24669	0.816000	0.32577	0.834000	0.47266	0.768000	0.26590	0.519000	0.28406	-0.251000	0.11542	GTC		0.592	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			40	44	0	0	0	1	0	40	44				
ATP2C2	9914	broad.mit.edu	37	16	84472889	84472889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84472889G>A	ENST00000262429.4	+	12	1193	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.E368E	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	368					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCATCGTGGAGACTTTAGGTG	0.572																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1102-1104)gaG>gaA		ATPase, Ca++ transporting, type 2C, member 2							80.0	88.0	85.0					16																	84472889		2072	4208	6280	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84472889G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1104G>A	16.37:g.84472889G>A						ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.E368E	p.E368E			O75185	AT2C2_HUMAN			12	1193	+			368					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1104G>A	CCDS42207.1																																																																																				0.572	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		28	32	0	0	0	1	0	28	32				
MEGF10	84466	broad.mit.edu	37	5	126676323	126676323	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126676323G>A	ENST00000274473.6	+	5	586		c.e5+1		MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTGTGTCCGTAAGTAAGAC	0.488																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e5+1		multiple EGF-like-domains 10							165.0	152.0	157.0					5																	126676323		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126676323G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.319+1G>A	5.37:g.126676323G>A						MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site		NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	5	586	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810284	0.90707	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8662	0.88795	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126704222	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.628000	0.98415	2.591000	0.87537	0.650000	0.86243	.		0.488	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	22	36	0	0	0	1	0	22	36				
ZNF638	27332	broad.mit.edu	37	2	71577212	71577212	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71577212G>T	ENST00000409544.1	+	2	1758	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H	ZNF638_ENST00000355812.3_Missense_Mutation_p.Q376H|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q376H|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q376H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	376					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACCAGTCACAGGCTGACATTC	0.443																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1126-1128)caG>caT		zinc finger protein 638							134.0	129.0	131.0					2																	71577212		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71577212G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1128G>T	2.37:g.71577212G>T	ENSP00000386433:p.Gln376His					ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q376H|ZNF638_ENST00000355812.3_Missense_Mutation_p.Q376H|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q376H	p.Q376H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			2	1758	+			376					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1128G>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	9.697	1.153454	0.21371	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74002	-0.21;-0.8;0.37;-0.2;1.38;1.38	5.88	2.71	0.32032	.	0.297070	0.32273	N	0.006337	T	0.53738	0.1815	N	0.14661	0.345	0.21915	N	0.999478	B;B;P;P;B	0.41569	0.247;0.09;0.755;0.641;0.037	B;B;B;B;B	0.37888	0.01;0.006;0.26;0.133;0.006	T	0.51309	-0.8722	10	0.66056	D	0.02	-10.8137	8.0921	0.30807	0.3417:0.0:0.6583:0.0	.	482;376;376;376;376	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	H	376;482;376;376;376;376	ENSP00000386669:Q376H;ENSP00000438189:Q482H;ENSP00000348066:Q376H;ENSP00000367033:Q376H;ENSP00000264447:Q376H;ENSP00000386433:Q376H	ENSP00000264447:Q376H	Q	+	3	2	ZNF638	71430720	0.974000	0.33945	0.996000	0.52242	0.970000	0.65996	0.906000	0.28517	0.844000	0.35094	0.655000	0.94253	CAG		0.443	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		8	115	1	0	1.12685e-05	1	1.27857e-05	8	115				
PRSS3	5646	broad.mit.edu	37	9	33797979	33797979	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33797979T>C	ENST00000361005.5	+	3	524	c.524T>C	c.(523-525)gTc>gCc	p.V175A	PRSS3_ENST00000429677.3_Missense_Mutation_p.V111A|PRSS3_ENST00000379405.3_Missense_Mutation_p.V118A|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.V132A	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCACCTGCCGTCATCAATGCC	0.562																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(523-525)gTc>gCc		protease, serine, 3							250.0	189.0	210.0					9																	33797979		2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33797979T>C		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.524T>C	9.37:g.33797979T>C	ENSP00000354280:p.Val175Ala					PRSS3_ENST00000429677.3_Missense_Mutation_p.V111A|PRSS3_ENST00000379405.3_Missense_Mutation_p.V118A|PRSS3_ENST00000342836.4_Missense_Mutation_p.V132A|RP11-133O22.6_ENST00000454429.2_RNA	p.V175A	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		3	524	+			175			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.524T>C	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	T	9.729	1.161638	0.21538	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.62	-7.24	0.01475	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.578480	0.00881	N	0.002127	T	0.78188	0.4244	L	0.35793	1.09	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.0;0.003;0.001	T	0.62473	-0.6847	10	0.35671	T	0.21	.	5.8012	0.18414	0.274:0.4874:0.0:0.2387	.	118;175;132	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	A	175;130;132;111;118	ENSP00000354280:V175A;ENSP00000401249:V130A;ENSP00000340889:V132A;ENSP00000401828:V111A;ENSP00000368715:V118A	ENSP00000340889:V132A	V	+	2	0	PRSS3	33787979	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-3.075000	0.00616	-1.329000	0.02258	0.260000	0.18958	GTC		0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		21	33	0	0	0	1	0	21	33				
GTPBP2	54676	broad.mit.edu	37	6	43589883	43589883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589883C>T	ENST00000307126.5	-	11	1488	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.E409K	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGATTCATCTCCGGGCTCACC	0.582																																					GBM(116;405 1620 28302 32150 44768)	ENST00000307126.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1489-1491)Gag>Aag		GTP binding protein 2							97.0	81.0	87.0					6																	43589883		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43589883C>T	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1489G>A	6.37:g.43589883C>T	ENSP00000303997:p.Glu497Lys					GTPBP2_ENST00000307114.7_Missense_Mutation_p.E409K|GTPBP2_ENST00000476510.1_5'UTR	p.E497K	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		11	1488	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		497						Missense_Mutation	SNP	ENST00000307126.5	37	c.1489G>A	CCDS4903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.493717|2.493717	0.44352|0.44352	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114;ENST00000434548|ENST00000419497;ENST00000432918	T;T|.	0.28255|.	1.62;1.63|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.047603|.	0.85682|.	D|.	0.000000|.	T|T	0.47710|0.47710	0.1460|0.1460	L|L	0.28192|0.28192	0.835|0.835	0.51482|0.51482	D|D	0.999926|0.999926	B;B|.	0.10296|.	0.003;0.0|.	B;B|.	0.10450|.	0.005;0.001|.	T|T	0.37174|0.37174	-0.9717|-0.9717	10|5	0.15066|.	T|.	0.55|.	-26.7598|-26.7598	20.0413|20.0413	0.97592|0.97592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	489;497|.	Q9BX10-4;Q9BX10|.	.;GTPB2_HUMAN|.	K|E	139;497;409;93|65	ENSP00000303997:E497K;ENSP00000304893:E409K|.	ENSP00000304893:E409K|.	E|G	-|-	1|2	0|0	GTPBP2|GTPBP2	43697861|43697861	0.999000|0.999000	0.42202|0.42202	0.969000|0.969000	0.41365|0.41365	0.975000|0.975000	0.68041|0.68041	3.998000|3.998000	0.57024|0.57024	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.582	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			17	21	0	0	0	1	0	17	21				
COL19A1	1310	broad.mit.edu	37	6	70840080	70840080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70840080G>T	ENST00000322773.4	+	18	1450	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y	COL19A1_ENST00000393344.1_Missense_Mutation_p.D72Y	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	450	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTAGGGAAATGATGAACATGA	0.378																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1348-1350)Gat>Tat		collagen, type XIX, alpha 1							76.0	81.0	79.0					6																	70840080		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70840080G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1348G>T	6.37:g.70840080G>T	ENSP00000316030:p.Asp450Tyr					COL19A1_ENST00000393344.1_Missense_Mutation_p.D72Y	p.D450Y	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			18	1450	+			450			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1348G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	4.501	0.092952	0.08632	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	T;T;T	0.37058	1.22;1.22;1.22	3.75	2.88	0.33553	.	0.719142	0.13218	N	0.404594	T	0.10809	0.0264	L	0.29908	0.895	0.26375	N	0.976826	P	0.34462	0.454	B	0.31614	0.133	T	0.11155	-1.0599	10	0.66056	D	0.02	.	7.1195	0.25435	0.1217:0.0:0.8783:0.0	.	450	Q14993	COJA1_HUMAN	Y	450;72;24	ENSP00000316030:D450Y;ENSP00000377013:D72Y;ENSP00000416556:D24Y	ENSP00000316030:D450Y	D	+	1	0	COL19A1	70896801	1.000000	0.71417	0.906000	0.35671	0.022000	0.10575	1.958000	0.40402	1.162000	0.42619	0.655000	0.94253	GAT		0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			9	19	1	0	0.00136819	1	0.00146042	9	19				
PHYHD1	254295	broad.mit.edu	37	9	131704018	131704018	+	3'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131704018G>A	ENST00000372592.3	+	0	1835				PHYHD1_ENST00000421063.2_3'UTR|PHYHD1_ENST00000353176.5_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000308941.5_Missense_Mutation_p.A294T	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1								dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						AGGAGCCCTCGCCCCTCCCGG	0.597																																						ENST00000308941.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						c.(880-882)Gcc>Acc		phytanoyl-CoA dioxygenase domain containing 1							45.0	45.0	45.0					9																	131704018		2203	4300	6503	SO:0001624	3_prime_UTR_variant	254295							g.chr9:131704018G>A	BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.*26G>A	9.37:g.131704018G>A						PHYHD1_ENST00000421063.2_3'UTR|PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000372592.3_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron	p.A294T	NM_174933.3	NP_777593.2					12	1300	+								A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	37	c.880G>A	CCDS43885.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514937	0.64634	.	.	ENSG00000175287	ENST00000308941	.	.	.	4.64	-8.03	0.01114	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.19666	0.026	T	0.37407	-0.9707	7	0.87932	D	0	2.5228	8.8628	0.35267	0.0:0.1371:0.1183:0.7446	.	294	Q5SRE7-3	.	T	294	.	ENSP00000309515:A294T	A	+	1	0	PHYHD1	130743839	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.079000	0.03410	-1.706000	0.01404	-0.521000	0.04368	GCC		0.597	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		7	16	0	0	0	1	0	7	16				
CLIC2	1193	broad.mit.edu	37	X	154528182	154528182	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154528182G>T	ENST00000369449.2	-	3	427	c.209C>A	c.(208-210)cCt>cAt	p.P70H	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	70	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGAACGGAGGATTGGTACC	0.373																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(208-210)cCt>cAt		chloride intracellular channel 2							90.0	85.0	87.0					X																	154528182		2203	4300	6503	SO:0001583	missense	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154528182G>T	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.209C>A	X.37:g.154528182G>T	ENSP00000358460:p.Pro70His					CLIC2_ENST00000465553.1_5'UTR	p.P70H	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			3	427	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		70			N-terminal.|Required for insertion into the membrane (By similarity).		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	37	c.209C>A	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.296243	0.81025	.	.	ENSG00000155962	ENST00000369449	T	0.25579	1.79	5.06	5.06	0.68205	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61461	-0.7058	10	0.72032	D	0.01	-8.4191	15.1839	0.72982	0.0:0.0:1.0:0.0	.	88;70	Q86YM0;O15247	.;CLIC2_HUMAN	H	70	ENSP00000358460:P70H	ENSP00000358460:P70H	P	-	2	0	CLIC2	154181376	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.003000	0.93577	2.262000	0.75019	0.415000	0.27848	CCT		0.373	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		28	55	1	0	1.5548e-18	1	2.02858e-18	28	55				
LGALS8	3964	broad.mit.edu	37	1	236702282	236702282	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702282A>G	ENST00000366584.4	+	4	804	c.238A>G	c.(238-240)Act>Gct	p.T80A	LGALS8_ENST00000525042.1_Missense_Mutation_p.T80A|LGALS8_ENST00000352231.2_Missense_Mutation_p.T80A|LGALS8_ENST00000323938.6_Missense_Mutation_p.T53A|LGALS8_ENST00000416919.2_Missense_Mutation_p.T80A|LGALS8_ENST00000526589.1_Missense_Mutation_p.T80A|LGALS8_ENST00000450372.2_Missense_Mutation_p.T80A|LGALS8_ENST00000341872.6_Missense_Mutation_p.T80A|LGALS8_ENST00000527974.1_Missense_Mutation_p.T80A|LGALS8_ENST00000526634.1_Missense_Mutation_p.T80A|RP11-385F5.5_ENST00000608547.1_RNA|RP11-385F5.4_ENST00000433131.1_RNA	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	80	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTTTGCAATACTTTGATAAA	0.453																																						ENST00000526589.1																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(238-240)Act>Gct		lectin, galactoside-binding, soluble, 8							95.0	90.0	92.0					1																	236702282		2203	4300	6503	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236702282A>G	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.238A>G	1.37:g.236702282A>G	ENSP00000355543:p.Thr80Ala					LGALS8_ENST00000416919.2_Missense_Mutation_p.T80A|LGALS8_ENST00000323938.6_Missense_Mutation_p.T53A|LGALS8_ENST00000526634.1_Missense_Mutation_p.T80A|LGALS8_ENST00000527974.1_Missense_Mutation_p.T80A|LGALS8_ENST00000341872.6_Missense_Mutation_p.T80A|LGALS8_ENST00000525042.1_Missense_Mutation_p.T80A|LGALS8_ENST00000450372.2_Missense_Mutation_p.T80A|LGALS8_ENST00000366584.4_Missense_Mutation_p.T80A|LGALS8_ENST00000352231.2_Missense_Mutation_p.T80A	p.T80A			O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		7	758	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	80			Galectin 1.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.238A>G	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908293	0.52333	.	.	ENSG00000116977	ENST00000481485;ENST00000454943;ENST00000527974;ENST00000430527;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.115263	0.56097	D	0.000021	T	0.34164	0.0888	M	0.67625	2.065	0.58432	D	0.999999	D;D;D	0.67145	0.993;0.996;0.993	P;D;P	0.66084	0.851;0.941;0.902	T	0.07868	-1.0750	10	0.72032	D	0.01	.	14.8795	0.70522	1.0:0.0:0.0:0.0	.	80;80;80	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	A	80;80;80;80;80;80;80;80;80;80;80;80;80;53;80;80	ENSP00000435632:T80A;ENSP00000405504:T80A;ENSP00000431398:T80A;ENSP00000398630:T80A;ENSP00000309576:T80A;ENSP00000385999:T80A;ENSP00000435460:T80A;ENSP00000342139:T80A;ENSP00000408657:T80A;ENSP00000355543:T80A;ENSP00000238181:T80A;ENSP00000410843:T80A;ENSP00000434860:T53A;ENSP00000437040:T80A;ENSP00000431884:T80A	ENSP00000238181:T80A	T	+	1	0	LGALS8	234768905	1.000000	0.71417	0.995000	0.50966	0.147000	0.21601	3.527000	0.53517	2.102000	0.63906	0.533000	0.62120	ACT		0.453	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		46	32	0	0	0	1	0	46	32				
SH3PXD2A	9644	broad.mit.edu	37	10	105361942	105361942	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105361942G>A	ENST00000369774.4	-	15	3309	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	SH3PXD2A_ENST00000355946.2_Silent_p.G983G|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.G846G|SH3PXD2A_ENST00000540321.1_Silent_p.G878G			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1011					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGTCGGACGCCTCGGAGGC	0.677																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(3031-3033)ggC>ggT		SH3 and PX domains 2A							45.0	49.0	48.0					10																	105361942		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361942G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3033C>T	10.37:g.105361942G>A						SH3PXD2A_ENST00000540321.1_Silent_p.G878G|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.G983G|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.G846G	p.G1011G			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3309	-		Colorectal(252;0.0815)|Breast(234;0.131)	1011					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.3033C>T		.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805293	0.02819	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.27	-9.98	0.00438	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69154	-0.5220	4	.	.	.	-5.4347	14.5771	0.68255	0.7312:0.0:0.1902:0.0786	.	.	.	.	C	938	.	.	R	-	1	0	SH3PXD2A	105351932	0.000000	0.05858	0.016000	0.15963	0.578000	0.36192	-0.963000	0.03837	-2.045000	0.00910	-1.421000	0.01109	CGT		0.677	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		19	38	0	0	0	1	0	19	38				
TNIP1	10318	broad.mit.edu	37	5	150444602	150444602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150444602C>A	ENST00000389378.2	-	2	643	c.55G>T	c.(55-57)Gga>Tga	p.G19*	TNIP1_ENST00000521591.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.G19*|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.G19*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	19					defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGCCTCTCCTGAGGGCACG	0.587																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(55-57)Gga>Tga		TNFAIP3 interacting protein 1							102.0	94.0	97.0					5																	150444602		2203	4300	6503	SO:0001587	stop_gained	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150444602C>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.55G>T	5.37:g.150444602C>A	ENSP00000374029:p.Gly19*					TNIP1_ENST00000521591.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.G19*	p.G19*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	643	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	19					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Nonsense_Mutation	SNP	ENST00000389378.2	37	c.55G>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	40	7.968035	0.98585	.	.	ENSG00000145901	ENST00000389378;ENST00000315050;ENST00000523338;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000520695;ENST00000521001	.	.	.	5.7	5.7	0.88788	.	0.372124	0.31989	N	0.006753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-8.7135	17.0031	0.86385	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000317891:G19X	G	-	1	0	TNIP1	150424795	1.000000	0.71417	0.980000	0.43619	0.823000	0.46562	5.731000	0.68554	2.688000	0.91661	0.655000	0.94253	GGA		0.587	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		18	27	1	0	6.94344e-10	1	8.49476e-10	18	27				
DDX21	9188	broad.mit.edu	37	10	70742539	70742539	+	Missense_Mutation	SNP	C	C	T	rs117087416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70742539C>T	ENST00000354185.4	+	15	2421	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	775					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCCAGAAGCGGAGTTTCAG	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		17831	0.001		0.0	False		,,,				2504	0.0					ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2323-2325)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box helicase 21		C	TRP/ARG	0,4406		0,0,2203	95.0	95.0	95.0		2323	1.5	1.0	10	dbSNP_132	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX21	NM_004728.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	775/784	70742539	1,13005	2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70742539C>T	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.2323C>T	10.37:g.70742539C>T	ENSP00000346120:p.Arg775Trp						p.R775W	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			15	2421	+			775					B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.2323C>T	CCDS31211.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.06	3.754124	0.69648	0.0	1.16E-4	ENSG00000165732	ENST00000354185	T	0.19532	2.14	5.5	1.55	0.23275	.	0.662303	0.14138	N	0.338918	T	0.21550	0.0519	N	0.08118	0	0.45261	D	0.998265	D	0.89917	1.0	D	0.87578	0.998	T	0.15867	-1.0422	10	0.87932	D	0	-17.5612	5.3339	0.15947	0.2847:0.5627:0.0:0.1526	.	775	Q9NR30	DDX21_HUMAN	W	775	ENSP00000346120:R775W	ENSP00000346120:R775W	R	+	1	2	DDX21	70412545	0.993000	0.37304	0.979000	0.43373	0.948000	0.59901	0.545000	0.23268	0.031000	0.15407	-0.182000	0.12963	CGG		0.403	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		22	48	0	0	0	1	0	22	48				
GTF3C1	2975	broad.mit.edu	37	16	27504543	27504543	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27504543A>G	ENST00000356183.4	-	17	2868	c.2853T>C	c.(2851-2853)atT>atC	p.I951I	GTF3C1_ENST00000561623.1_Silent_p.I951I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	951					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTGCTGCCGAATGGGCCTGG	0.537																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(2851-2853)atT>atC		general transcription factor IIIC, polypeptide 1, alpha 220kDa							122.0	108.0	113.0					16																	27504543		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27504543A>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2853T>C	16.37:g.27504543A>G						GTF3C1_ENST00000561623.1_Silent_p.I951I	p.I951I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			17	2868	-			951					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.2853T>C	CCDS32414.1																																																																																				0.537	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	66	0	0	0	1	0	4	66				
FNIP1	96459	broad.mit.edu	37	5	131008547	131008547	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131008547G>A	ENST00000510461.1	-	14	1685	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	FNIP1_ENST00000307968.7_Silent_p.D502D|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.D485D	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	530					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGGACCATGTCTTGTCGTT	0.398																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1504-1506)gaC>gaT		folliculin interacting protein 1							79.0	82.0	81.0					5																	131008547		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131008547G>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1590C>T	5.37:g.131008547G>A						FNIP1_ENST00000307954.8_Silent_p.D485D|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.D530D	p.D502D	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	1505	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.1506C>T	CCDS34227.1																																																																																				0.398	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		7	78	0	0	0	1	0	7	78				
CYB5R2	51700	broad.mit.edu	37	11	7687771	7687771	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7687771T>G	ENST00000533558.1	-	8	1125	c.569A>C	c.(568-570)gAt>gCt	p.D190A	CYB5R2_ENST00000299498.6_Missense_Mutation_p.D190A|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299497.9_Missense_Mutation_p.D190A|CYB5R2_ENST00000524790.1_Missense_Mutation_p.D190A			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	190					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCAAGATATCCTCCTCTGT	0.517											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(568-570)gAt>gCt		cytochrome b5 reductase 2							129.0	121.0	124.0					11																	7687771		2201	4296	6497	SO:0001583	missense	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7687771T>G	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.569A>C	11.37:g.7687771T>G	ENSP00000437041:p.Asp190Ala		OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	643	CYB5R2_ENST00000299497.9_Missense_Mutation_p.D190A|CYB5R2_ENST00000524790.1_Missense_Mutation_p.D190A|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Missense_Mutation_p.D190A	p.D190A			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	8	1125	-			190					Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	c.569A>C	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788893	0.70337	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.59	5.59	0.84812	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99572	1.0971	10	0.87932	D	0	-9.512	13.7261	0.62759	0.0:0.0:0.0:1.0	.	190	Q6BCY4	NB5R2_HUMAN	A	190	ENSP00000435916:D190A;ENSP00000299498:D190A;ENSP00000437041:D190A;ENSP00000299497:D190A	ENSP00000299497:D190A	D	-	2	0	CYB5R2	7644347	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	5.755000	0.68750	2.124000	0.65301	0.533000	0.62120	GAT		0.517	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		15	21	0	0	0	1	0	15	21				
CFTR	1080	broad.mit.edu	37	7	117254736	117254736	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117254736C>A	ENST00000003084.6	+	21	3569	c.3437C>A	c.(3436-3438)gCt>gAt	p.A1146D	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.A1085D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1146	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTGCAGTGGGCTGTAAACTCC	0.353									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(3436-3438)gCt>gAt		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						187.0	168.0	174.0					7																	117254736		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117254736C>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3437C>A	7.37:g.117254736C>A	ENSP00000003084:p.Ala1146Asp					AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.A1085D	p.A1146D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		21	3569	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1146			ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3437C>A	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.695484|4.695484	0.88830|0.88830	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.94758|.	-3.51;-3.51;-3.51|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.097877|.	0.64402|.	D|.	0.000001|.	D|D	0.82995|0.82995	0.5158|0.5158	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.82792|0.82792	-0.0282|-0.0282	10|5	0.62326|.	D|.	0.03|.	-18.1975|-18.1975	20.2704|20.2704	0.98474|0.98474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1146|.	P13569|.	CFTR_HUMAN|.	D|M	1146;1085;1116|88	ENSP00000003084:A1146D;ENSP00000403677:A1085D;ENSP00000389119:A1116D|.	ENSP00000003084:A1146D|.	A|L	+|+	2|1	0|2	CFTR|CFTR	117041972|117041972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.741000|5.741000	0.68638|0.68638	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	GCT|CTG		0.353	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		7	144	1	0	1.12685e-05	1	1.27857e-05	7	144				
TNFAIP1	7126	broad.mit.edu	37	17	26666704	26666704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26666704C>T	ENST00000226225.2	+	2	424	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	53	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGACACCATGCTCAAGGCCAT	0.627																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(157-159)Ctc>Ttc		tumor necrosis factor, alpha-induced protein 1 (endothelial)							81.0	76.0	78.0					17																	26666704		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26666704C>T		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.157C>T	17.37:g.26666704C>T	ENSP00000226225:p.Leu53Phe					TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	p.L53F	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	424	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		53			BTB.		B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.157C>T	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291415	0.59976	.	.	ENSG00000109079	ENST00000226225	D	0.85484	-1.99	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90208	0.4262	10	0.48119	T	0.1	-18.08	18.751	0.91814	0.0:1.0:0.0:0.0	.	53	Q13829	BACD2_HUMAN	F	53	ENSP00000226225:L53F	ENSP00000226225:L53F	L	+	1	0	TNFAIP1	23690831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.645000	0.61404	2.666000	0.90696	0.561000	0.74099	CTC		0.627	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		20	43	0	0	0	1	0	20	43				
SSX2IP	117178	broad.mit.edu	37	1	85135531	85135531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85135531C>A	ENST00000342203.3	-	4	522	c.259G>T	c.(259-261)Ggt>Tgt	p.G87C	SSX2IP_ENST00000437941.2_Missense_Mutation_p.G60C|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.G60C|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G87C	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	87					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTCTCTTTACCTTTGGATTCT	0.363																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(178-180)Ggt>Tgt		synovial sarcoma, X breakpoint 2 interacting protein							83.0	89.0	87.0					1																	85135531		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85135531C>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.259G>T	1.37:g.85135531C>A	ENSP00000340279:p.Gly87Cys					SSX2IP_ENST00000605755.1_Missense_Mutation_p.G60C|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G87C|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G87C	p.G60C	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	530	-			87					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.178G>T	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373054	0.61624	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612;ENST00000422026	T;T	0.49432	0.8;0.78	5.24	3.27	0.37495	.	0.445701	0.27787	N	0.017842	T	0.36386	0.0965	L	0.50333	1.59	0.30965	N	0.723231	D;P;P	0.61697	0.99;0.847;0.847	P;P;P	0.55999	0.789;0.705;0.705	T	0.32508	-0.9904	10	0.72032	D	0.01	0.5041	6.5255	0.22299	0.0:0.6738:0.0:0.3262	.	83;87;60	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	C	87;60;83;87;87	ENSP00000340279:G87C;ENSP00000412781:G60C	ENSP00000340279:G87C	G	-	1	0	SSX2IP	84908119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.150000	0.31639	0.495000	0.27882	0.655000	0.94253	GGT		0.363	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		5	68	1	0	1.23904e-05	1	1.39987e-05	5	68				
ZBED4	9889	broad.mit.edu	37	22	50278552	50278552	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278552C>A	ENST00000216268.5	+	2	1719	c.1242C>A	c.(1240-1242)ttC>ttA	p.F414L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	414						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCGGCCTTCTCATCTTCCG	0.587																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1240-1242)ttC>ttA		zinc finger, BED-type containing 4							57.0	61.0	60.0					22																	50278552		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278552C>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1242C>A	22.37:g.50278552C>A	ENSP00000216268:p.Phe414Leu						p.F414L	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1719	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	414					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1242C>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.941966	0.00479	.	.	ENSG00000100426	ENST00000216268	T	0.38077	1.16	4.57	1.14	0.20703	.	0.713899	0.12936	N	0.427012	T	0.06462	0.0166	N	0.00170	-1.935	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.39663	-0.9603	10	0.02654	T	1	-5.5425	6.5981	0.22685	0.1588:0.3146:0.5266:0.0	.	414	O75132	ZBED4_HUMAN	L	414	ENSP00000216268:F414L	ENSP00000216268:F414L	F	+	3	2	ZBED4	48664556	0.250000	0.23951	0.385000	0.26158	0.017000	0.09413	0.289000	0.18957	0.519000	0.28406	-0.165000	0.13383	TTC		0.587	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		5	62	1	0	0.0215528	1	0.0221649	5	62				
CYP27B1	1594	broad.mit.edu	37	12	58160812	58160812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58160812G>T	ENST00000228606.4	-	1	222	c.13C>A	c.(13-15)Ctc>Atc	p.L5I	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	5					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GCGTACTTGAGGGTCTGGGTC	0.592																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(13-15)Ctc>Atc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						75.0	87.0	83.0					12																	58160812		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160812G>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.13C>A	12.37:g.58160812G>T	ENSP00000228606:p.Leu5Ile					RP11-571M6.13_ENST00000546609.1_RNA	p.L5I	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	222	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		5					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.13C>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502636	0.64298	.	.	ENSG00000111012	ENST00000228606	T	0.77489	-1.1	5.26	1.23	0.21249	.	0.640677	0.15472	N	0.260553	T	0.54447	0.1859	N	0.08118	0	0.28545	N	0.911918	B	0.22800	0.075	B	0.17979	0.02	T	0.46952	-0.9154	10	0.39692	T	0.17	.	7.1081	0.25374	0.2093:0.1266:0.6641:0.0	.	5	O15528	CP27B_HUMAN	I	5	ENSP00000228606:L5I	ENSP00000228606:L5I	L	-	1	0	CYP27B1	56447079	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	1.307000	0.33516	0.341000	0.23771	0.655000	0.94253	CTC		0.592	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		12	103	1	0	1.36491e-13	1	1.73287e-13	12	103				
TRPV5	56302	broad.mit.edu	37	7	142612660	142612660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142612660G>T	ENST00000265310.1	-	9	1549	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	401					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTAGGAGCAGGATGATC	0.547																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1201-1203)Ctc>Atc		transient receptor potential cation channel, subfamily V, member 5							110.0	90.0	97.0					7																	142612660		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612660G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1201C>A	7.37:g.142612660G>T	ENSP00000265310:p.Leu401Ile						p.L401I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			9	1549	-	Melanoma(164;0.059)		401					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1201C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501472	0.26861	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.87103	-2.21;-2.21	4.75	-0.542	0.11854	.	0.473432	0.19777	N	0.106316	T	0.76499	0.3996	L	0.42581	1.335	0.25900	N	0.983366	B	0.19817	0.039	B	0.25140	0.058	T	0.60890	-0.7173	10	0.33940	T	0.23	-17.201	0.7566	0.00999	0.2199:0.2246:0.3262:0.2293	.	401	Q9NQA5	TRPV5_HUMAN	I	401;346	ENSP00000265310:L401I;ENSP00000406361:L346I	ENSP00000265310:L401I	L	-	1	0	TRPV5	142322782	0.002000	0.14202	0.030000	0.17652	0.983000	0.72400	-0.217000	0.09253	-0.359000	0.08150	-0.136000	0.14681	CTC		0.547	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		12	28	1	0	7.03913e-09	1	8.47891e-09	12	28				
ADRA1B	147	broad.mit.edu	37	5	159344282	159344282	+	Missense_Mutation	SNP	G	G	A	rs187500825		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159344282G>A	ENST00000306675.3	+	1	493	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	124					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CTGGGCAGCCGTGGATGTCCT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19395	0.0		0.0	False		,,,				2504	0.0					ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(370-372)Gtg>Atg		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						97.0	84.0	89.0					5																	159344282		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344282G>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.370G>A	5.37:g.159344282G>A	ENSP00000306662:p.Val124Met						p.V124M	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	493	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	124					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.370G>A	CCDS4347.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.08	2.728422	0.48833	.	.	ENSG00000170214	ENST00000306675	T	0.38722	1.12	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.055575	0.64402	D	0.000001	T	0.51753	0.1693	N	0.25426	0.745	0.46631	D	0.999132	D	0.65815	0.995	D	0.65684	0.937	T	0.53788	-0.8389	10	0.59425	D	0.04	.	17.7769	0.88511	0.0:0.0:1.0:0.0	.	124	P35368	ADA1B_HUMAN	M	124	ENSP00000306662:V124M	ENSP00000306662:V124M	V	+	1	0	ADRA1B	159276860	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.236000	0.65354	2.629000	0.89072	0.462000	0.41574	GTG		0.617	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			25	33	0	0	0	1	0	25	33				
ZNF442	79973	broad.mit.edu	37	19	12463807	12463807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12463807C>T	ENST00000242804.4	-	4	782	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACCTATACAGTCCAGGTT	0.418																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(199-201)tGt>tAt		zinc finger protein 442							147.0	145.0	146.0					19																	12463807		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12463807C>T	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.200G>A	19.37:g.12463807C>T	ENSP00000242804:p.Cys67Tyr					ZNF442_ENST00000438182.1_Intron	p.C67Y	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			4	782	-			67			KRAB.		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.200G>A	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	5.141	0.211531	0.09757	.	.	ENSG00000198342	ENST00000242804	T	0.01685	4.69	1.03	-1.79	0.07932	Krueppel-associated box (4);	.	.	.	.	T	0.01387	0.0045	N	0.17674	0.51	0.09310	N	0.999998	B	0.17465	0.022	B	0.25987	0.065	T	0.47611	-0.9104	9	0.59425	D	0.04	.	2.9271	0.05787	0.0:0.3144:0.3921:0.2935	.	67	Q9H7R0	ZN442_HUMAN	Y	67	ENSP00000242804:C67Y	ENSP00000242804:C67Y	C	-	2	0	ZNF442	12324807	0.000000	0.05858	0.015000	0.15790	0.397000	0.30659	-0.440000	0.06888	-0.487000	0.06735	-0.657000	0.03884	TGT		0.418	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		12	117	0	0	0	1	0	12	117				
CLRN2	645104	broad.mit.edu	37	4	17528511	17528511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17528511G>A	ENST00000511148.2	+	3	607	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	169						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAACGAATCGCCAACTTTCA	0.537																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(505-507)Gcc>Acc		clarin 2							88.0	96.0	93.0					4																	17528511		2114	4234	6348	SO:0001583	missense	645104					integral to membrane		g.chr4:17528511G>A		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.505G>A	4.37:g.17528511G>A	ENSP00000424711:p.Ala169Thr						p.A169T	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			3	607	+			169						Missense_Mutation	SNP	ENST00000511148.2	37	c.505G>A	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269786	0.95429	.	.	ENSG00000249581	ENST00000511148	T	0.80994	-1.44	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87607	0.2501	10	0.42905	T	0.14	-22.5157	19.568	0.95403	0.0:0.0:1.0:0.0	.	169	A0PK11	CLRN2_HUMAN	T	169	ENSP00000424711:A169T	ENSP00000424711:A169T	A	+	1	0	CLRN2	17137609	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.106000	0.77039	2.736000	0.93811	0.655000	0.94253	GCC		0.537	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		4	50	0	0	0	1	0	4	50				
RP11-337C18.8	0	broad.mit.edu	37	1	146650381	146650381	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146650381G>A	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							ATGACCAGTGGCAAAATTAAA	0.378																																						ENST00000607149.1																			0																																																			0							g.chr1:146650381G>A																													1.37:g.146650381G>A														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.378	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			24	31	0	0	0	1	0	24	31				
CCDC88A	55704	broad.mit.edu	37	2	55544839	55544839	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55544839A>G	ENST00000436346.1	-	20	4304	c.3463T>C	c.(3463-3465)Tct>Cct	p.S1155P	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1155P|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1154P|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1154P|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1155					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTGATCAGAGAATCATAGAGA	0.393																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3463-3465)Tct>Cct		coiled-coil domain containing 88A							111.0	113.0	112.0					2																	55544839		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55544839A>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3463T>C	2.37:g.55544839A>G	ENSP00000410608:p.Ser1155Pro					CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1154P|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1155P|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1154P|AC012358.8_ENST00000600219.1_RNA	p.S1155P	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			20	4304	-			1155					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3463T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.604381|2.604381	0.46423|0.46423	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;D;T;T	.|0.83591	.|2.38;2.56;2.6;-1.74;2.36;1.37	6.02|6.02	3.49|3.49	0.39957|0.39957	.|.	.|0.338184	.|0.21342	.|U	.|0.076103	T|T	0.79770|0.79770	0.4503|0.4503	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.32101	.|0.356;0.056;0.07;0.255;0.068;0.056	.|B;B;B;B;B;B	.|0.37047	.|0.24;0.162;0.043;0.221;0.124;0.113	T|T	0.77797|0.77797	-0.2453|-0.2453	5|10	.|0.52906	.|T	.|0.07	-4.262|-4.262	9.6716|9.6716	0.40015|0.40015	0.5956:0.3377:0.0668:0.0|0.5956:0.3377:0.0668:0.0	.|.	.|1154;1155;1100;1155;1154;1154	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	S|P	135|1154;1155;1155;200;1154;330	.|ENSP00000338728:S1154P;ENSP00000263630:S1155P;ENSP00000410608:S1155P;ENSP00000390012:S200P;ENSP00000404431:S1154P;ENSP00000405080:S330P	.|ENSP00000263630:S1155P	F|S	-|-	2|1	0|0	CCDC88A|CCDC88A	55398343|55398343	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.981000|0.981000	0.71138|0.71138	2.307000|2.307000	0.43682|0.43682	1.078000|1.078000	0.41014|0.41014	0.528000|0.528000	0.53228|0.53228	TTC|TCT		0.393	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		13	124	0	0	0	1	0	13	124				
NEK8	284086	broad.mit.edu	37	17	27061108	27061108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061108G>A	ENST00000268766.6	+	2	189	c.155G>A	c.(154-156)tGc>tAc	p.C52Y	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGAATGAGTGCCAGGTCCTC	0.527																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(154-156)tGc>tAc		NIMA-related kinase 8							118.0	104.0	108.0					17																	27061108		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061108G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.155G>A	17.37:g.27061108G>A	ENSP00000268766:p.Cys52Tyr					AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	p.C52Y	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			2	189	+	Lung NSC(42;0.0158)		52			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.155G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264362	0.80358	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.23552	1.9;1.9	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	N	0.11845	0.185	0.58432	D	0.999999	D	0.54601	0.967	P	0.52066	0.689	T	0.17501	-1.0367	10	0.87932	D	0	.	17.124	0.86710	0.0:0.0:1.0:0.0	.	52	Q86SG6	NEK8_HUMAN	Y	52	ENSP00000465859:C52Y;ENSP00000268766:C52Y	ENSP00000268766:C52Y	C	+	2	0	NEK8	24085235	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.539000	0.82063	2.267000	0.75376	0.313000	0.20887	TGC		0.527	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			14	36	0	0	0	1	0	14	36				
FAIM3	9214	broad.mit.edu	37	1	207078478	207078478	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207078478G>T	ENST00000367091.3	-	8	1202	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P	FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Silent_p.P241P|FAIM3_ENST00000420007.2_3'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	353					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CATGGAGCCAGGGAGATTCAG	0.512																																						ENST00000367091.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1057-1059)ccC>ccA		Fas apoptotic inhibitory molecule 3							102.0	100.0	101.0					1																	207078478		2203	4300	6503	SO:0001819	synonymous_variant	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207078478G>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.1059C>A	1.37:g.207078478G>T						FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Silent_p.P241P|FAIM3_ENST00000420007.2_3'UTR	p.P353P	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN			8	1202	-	Breast(84;0.201)		353					A8K7J2|B7Z6Z0|D9MWM3	Silent	SNP	ENST00000367091.3	37	c.1059C>A	CCDS1473.1																																																																																				0.512	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		4	42	1	0	0.00024832	1	0.0002712	4	42				
NCBP1	4686	broad.mit.edu	37	9	100407398	100407398	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100407398G>T	ENST00000375147.3	+	5	637		c.e5-1			NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCCCCAACAGGTCCGTTTTT	0.338																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.e5-1		nuclear cap binding protein subunit 1, 80kDa							134.0	127.0	129.0					9																	100407398		2203	4300	6503	SO:0001630	splice_region_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100407398G>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.382-1G>T	9.37:g.100407398G>T								NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			5	637	+		Acute lymphoblastic leukemia(62;0.158)						B2R718|Q59G76|Q5T1V0|Q5T7X2	Splice_Site	SNP	ENST00000375147.3	37		CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478223	0.84747	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4233	0.94730	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCBP1	99447219	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.458000	0.97634	2.772000	0.95346	0.650000	0.86243	.		0.338	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	Intron	37	51	1	0	2.04263e-09	1	2.48509e-09	37	51				
BTN2A2	10385	broad.mit.edu	37	6	26392884	26392884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26392884G>A	ENST00000356709.4	+	8	1372	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	BTN2A2_ENST00000482536.1_Missense_Mutation_p.E211K|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E421K|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E305K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	421	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGGACCCTGGAGATGTTTGG	0.562																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1261-1263)Gag>Aag		butyrophilin, subfamily 2, member A2							108.0	105.0	106.0					6																	26392884		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26392884G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1261G>A	6.37:g.26392884G>A	ENSP00000349143:p.Glu421Lys					BTN2A2_ENST00000482536.1_Missense_Mutation_p.E211K|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E305K|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E421K|BTN2A2_ENST00000432533.2_3'UTR	p.E421K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1372	+			421			B30.2/SPRY.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1261G>A	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	18.31	3.595355	0.66219	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	3.92	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.124211	0.36374	N	0.002637	T	0.57169	0.2035	L	0.46885	1.475	0.25872	N	0.983691	D;B;B	0.63046	0.992;0.445;0.413	D;B;B	0.65010	0.931;0.348;0.252	T	0.47209	-0.9135	10	0.14252	T	0.57	.	10.0109	0.41986	0.0:0.2074:0.7926:0.0	.	211;305;421	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	K	216;421;305;211;421	ENSP00000418965:E216K;ENSP00000349143:E421K;ENSP00000337117:E305K;ENSP00000419451:E211K;ENSP00000399308:E421K	ENSP00000337117:E305K	E	+	1	0	BTN2A2	26500863	0.001000	0.12720	1.000000	0.80357	0.995000	0.86356	0.020000	0.13466	1.916000	0.55485	0.454000	0.30748	GAG		0.562	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			16	35	0	0	0	1	0	16	35				
NELFCD	51497	broad.mit.edu	37	20	57561832	57561832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57561832C>T	ENST00000344018.3	+	3	254	c.227C>T	c.(226-228)cCa>cTa	p.P76L	NELFCD_ENST00000602795.1_Missense_Mutation_p.P85L			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	76					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											GGAGGGTCTCCAGAGAATGTT	0.493																																						ENST00000602795.1																			0											c.(253-255)cCa>cTa		negative elongation factor complex member C/D							196.0	193.0	194.0					20																	57561832		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57561832C>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.227C>T	20.37:g.57561832C>T	ENSP00000342300:p.Pro76Leu					NELFCD_ENST00000344018.3_Missense_Mutation_p.P76L	p.P85L							3	302	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.254C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.289423	0.95517	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84065	0.5390	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.995	D	0.86152	0.1588	9	0.72032	D	0.01	-24.8003	17.7389	0.88402	0.0:1.0:0.0:0.0	.	76;85;76	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	L	76	.	ENSP00000342300:P76L	P	+	2	0	TH1L	56995227	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.187000	0.77730	2.626000	0.88956	0.655000	0.94253	CCA		0.493	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		19	159	0	0	0	1	0	19	159				
KIAA1958	158405	broad.mit.edu	37	9	115337335	115337335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115337335G>A	ENST00000337530.6	+	2	1271	c.975G>A	c.(973-975)ttG>ttA	p.L325L	KIAA1958_ENST00000536272.1_Silent_p.L325L|KIAA1958_ENST00000374244.3_Silent_p.L325L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	325										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTATCCCCTTGTCTGCCCTGC	0.557																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(973-975)ttG>ttA		KIAA1958							239.0	224.0	229.0					9																	115337335		2203	4300	6503	SO:0001819	synonymous_variant	158405							g.chr9:115337335G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.975G>A	9.37:g.115337335G>A						KIAA1958_ENST00000536272.1_Silent_p.L325L|KIAA1958_ENST00000374244.3_Silent_p.L325L	p.L325L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	1271	+			325					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.975G>A	CCDS35108.1																																																																																				0.557	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		6	196	0	0	0	1	0	6	196				
EVA1A	84141	broad.mit.edu	37	2	75720698	75720698	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75720698G>A	ENST00000233712.1	-	4	560	c.123C>T	c.(121-123)ggC>ggT	p.G41G	EVA1A_ENST00000393913.3_Silent_p.G41G|EVA1A_ENST00000410113.1_Silent_p.G41G|EVA1A_ENST00000410010.1_Silent_p.G29G|EVA1A_ENST00000410071.1_Silent_p.G41G|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	41	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CGATGCACACGCCAGAAACAA	0.532																																						ENST00000233712.1																			0											c.(121-123)ggC>ggT		eva-1 homolog A (C. elegans)							30.0	29.0	30.0					2																	75720698		2203	4300	6503	SO:0001819	synonymous_variant	84141							g.chr2:75720698G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.123C>T	2.37:g.75720698G>A						EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410071.1_Silent_p.G41G|EVA1A_ENST00000410113.1_Silent_p.G41G|EVA1A_ENST00000410010.1_Silent_p.G29G|EVA1A_ENST00000393913.3_Silent_p.G41G	p.G41G	NM_032181.2	NP_115557.1					4	560	-								D6W5J3|Q9HC41	Silent	SNP	ENST00000233712.1	37	c.123C>T	CCDS1959.1																																																																																				0.532	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		11	13	0	0	0	1	0	11	13				
SSFA2	6744	broad.mit.edu	37	2	182780677	182780677	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182780677C>A	ENST00000431877.2	+	11	2489	c.2310C>A	c.(2308-2310)tcC>tcA	p.S770S	SSFA2_ENST00000409136.1_Silent_p.S279S|SSFA2_ENST00000409001.1_Silent_p.S770S|SSFA2_ENST00000428267.2_Silent_p.S617S|SSFA2_ENST00000320370.7_Silent_p.S770S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	770						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCCCACCTTCCTTCACCTATA	0.453																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2308-2310)tcC>tcA		sperm specific antigen 2							70.0	63.0	65.0					2																	182780677		2202	4300	6502	SO:0001819	synonymous_variant	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780677C>A	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2310C>A	2.37:g.182780677C>A						SSFA2_ENST00000409001.1_Silent_p.S770S|SSFA2_ENST00000320370.7_Silent_p.S770S|SSFA2_ENST00000409136.1_Silent_p.S279S|SSFA2_ENST00000428267.2_Silent_p.S617S	p.S770S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2489	+			770					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	c.2310C>A	CCDS46467.1																																																																																				0.453	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		8	71	1	0	3.09899e-07	1	3.63227e-07	8	71				
NMT1	4836	broad.mit.edu	37	17	43180480	43180480	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43180480C>T	ENST00000592782.1	+	10	1286	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	NMT1_ENST00000258960.2_Silent_p.F385F			P30419	NMT1_HUMAN	N-myristoyltransferase 1	385					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCGACACTTTCGTGGTGGAGG	0.577																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(1153-1155)ttC>ttT		N-myristoyltransferase 1							117.0	111.0	113.0					17																	43180480		2203	4300	6503	SO:0001819	synonymous_variant	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43180480C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1155C>T	17.37:g.43180480C>T						NMT1_ENST00000258960.2_Silent_p.F385F	p.F385F			P30419	NMT1_HUMAN			10	1286	+		Prostate(33;0.155)	385					A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	c.1155C>T	CCDS11494.1																																																																																				0.577	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		19	54	0	0	0	1	0	19	54				
COL2A1	1280	broad.mit.edu	37	12	48379542	48379542	+	Missense_Mutation	SNP	C	C	T	rs186233557	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48379542C>T	ENST00000380518.3	-	25	1813	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R481H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	550	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCTCCAGGACGGCCAGGGTC	0.647																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(1648-1650)cGt>cAt		collagen, type II, alpha 1	Collagenase(DB00048)						46.0	44.0	45.0					12																	48379542		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48379542C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1649G>A	12.37:g.48379542C>T	ENSP00000369889:p.Arg550His					COL2A1_ENST00000337299.6_Missense_Mutation_p.R481H|COL2A1_ENST00000493991.1_5'UTR	p.R550H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			25	1813	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	550			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.1649G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454397	0.96223	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94280	-3.39;-3.39	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.83275	0.996;0.991	D	0.96024	0.9011	10	0.87932	D	0	.	18.3385	0.90297	0.0:1.0:0.0:0.0	.	481;550	P02458-1;P02458	.;CO2A1_HUMAN	H	550;481;481	ENSP00000369889:R550H;ENSP00000338213:R481H	ENSP00000338213:R481H	R	-	2	0	COL2A1	46665809	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.946000	0.63576	2.629000	0.89072	0.609000	0.83330	CGT		0.647	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	16	0	0	0	1	0	6	16				
RASSF3	283349	broad.mit.edu	37	12	65085294	65085294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65085294C>T	ENST00000542104.1	+	4	622	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RASSF3_ENST00000336061.2_Missense_Mutation_p.R168C	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	168	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		ACTCTACCTGCGTTTGGTAGC	0.443																																						ENST00000542104.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(502-504)Cgt>Tgt		Ras association (RalGDS/AF-6) domain family member 3							135.0	111.0	119.0					12																	65085294		2203	4300	6503	SO:0001583	missense	283349				signal transduction	cytoplasm|microtubule	identical protein binding	g.chr12:65085294C>T		CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.502C>T	12.37:g.65085294C>T	ENSP00000443021:p.Arg168Cys					RASSF3_ENST00000336061.2_Missense_Mutation_p.R168C	p.R168C	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)	4	622	+			168			Ras-associating.		Q86WH1	Missense_Mutation	SNP	ENST00000542104.1	37	c.502C>T	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195747	0.78902	.	.	ENSG00000153179	ENST00000542104;ENST00000336061;ENST00000541539	T;T	0.19250	2.16;2.16	4.85	4.85	0.62838	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	.	.	.	0.80722	D	1	P	0.44627	0.839	B	0.39805	0.31	T	0.01951	-1.1241	8	.	.	.	-10.3592	13.367	0.60689	0.1575:0.8425:0.0:0.0	.	168	Q86WH2	RASF3_HUMAN	C	168;168;98	ENSP00000443021:R168C;ENSP00000336616:R168C	.	R	+	1	0	RASSF3	63371561	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.074000	0.57577	2.415000	0.81967	0.561000	0.74099	CGT		0.443	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1			13	24	0	0	0	1	0	13	24				
TMEM101	84336	broad.mit.edu	37	17	42090509	42090509	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42090509C>T	ENST00000589334.1	-	4	648	c.333G>A	c.(331-333)tcG>tcA	p.S111S	TMEM101_ENST00000206380.3_Silent_p.S111S|TMEM101_ENST00000587529.1_Silent_p.S111S|TMEM101_ENST00000542039.1_Silent_p.S53S			Q96IK0	TM101_HUMAN	transmembrane protein 101	111					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAACTGTGCGCGAGTACATAC	0.632																																						ENST00000589334.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(331-333)tcG>tcA		transmembrane protein 101							28.0	26.0	27.0					17																	42090509		2200	4289	6489	SO:0001819	synonymous_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42090509C>T	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.333G>A	17.37:g.42090509C>T						TMEM101_ENST00000206380.3_Silent_p.S111S|TMEM101_ENST00000542039.1_Silent_p.S53S|TMEM101_ENST00000587529.1_Silent_p.S111S	p.S111S			Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	648	-		Breast(137;0.0264)|Prostate(33;0.0861)	111					B2R9N6	Silent	SNP	ENST00000589334.1	37	c.333G>A	CCDS11474.1																																																																																				0.632	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		10	16	0	0	0	1	0	10	16				
APBA2	321	broad.mit.edu	37	15	29346645	29346645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29346645C>A	ENST00000558402.1	+	5	1157	c.558C>A	c.(556-558)taC>taA	p.Y186*	APBA2_ENST00000558259.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000558330.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000561069.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000411764.1_Nonsense_Mutation_p.Y186*			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	186	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGTCACTACTGTGCCAGCA	0.642																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(556-558)taC>taA		amyloid beta (A4) precursor protein-binding, family A, member 2							42.0	38.0	39.0					15																	29346645		2203	4300	6503	SO:0001587	stop_gained	321				nervous system development|protein transport		protein binding	g.chr15:29346645C>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.558C>A	15.37:g.29346645C>A	ENSP00000453293:p.Tyr186*					APBA2_ENST00000558259.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000411764.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000561069.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000558330.1_Nonsense_Mutation_p.Y186*	p.Y186*			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1157	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	186	DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).		STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Nonsense_Mutation	SNP	ENST00000558402.1	37	c.558C>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580573	0.46006	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	.	.	.	5.07	0.429	0.16506	.	0.327570	0.29737	N	0.011340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2168	0.43173	0.0:0.5458:0.0:0.4542	.	.	.	.	X	186	.	ENSP00000219865:Y186X	Y	+	3	2	APBA2	27133937	0.991000	0.36638	0.750000	0.31169	0.078000	0.17371	0.116000	0.15561	0.166000	0.19597	-0.808000	0.03180	TAC		0.642	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		3	26	1	0	0.115264	1	0.117355	3	26				
KBTBD6	89890	broad.mit.edu	37	13	41704782	41704782	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41704782G>A	ENST00000379485.1	-	1	2100	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	KBTBD6_ENST00000499385.2_Silent_p.C556C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	622										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAGGTTCAAGGCAGGAAGGAT	0.433																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1864-1866)tgC>tgT		kelch repeat and BTB (POZ) domain containing 6							137.0	127.0	130.0					13																	41704782		2203	4300	6503	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41704782G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1866C>T	13.37:g.41704782G>A						KBTBD6_ENST00000499385.2_Silent_p.C556C	p.C622C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	2100	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	622					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.1866C>T	CCDS9376.1																																																																																				0.433	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		28	37	0	0	0	1	0	28	37				
LYSMD1	388695	broad.mit.edu	37	1	151134363	151134363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151134363G>A	ENST00000368908.5	-	2	1054	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	LYSMD1_ENST00000440902.2_Missense_Mutation_p.R84C	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	132										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTGGCACGTCCTGCTCCT	0.502																																						ENST00000368908.5																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(394-396)Cgt>Tgt		LysM, putative peptidoglycan-binding, domain containing 1							220.0	183.0	195.0					1																	151134363		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151134363G>A	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.394C>T	1.37:g.151134363G>A	ENSP00000357904:p.Arg132Cys					LYSMD1_ENST00000440902.2_Missense_Mutation_p.R84C	p.R132C	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	1054	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		132					B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.394C>T	CCDS986.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565016	0.27915	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.32515	1.47;1.45	5.43	2.4	0.29515	.	1.419090	0.04239	N	0.336608	T	0.10508	0.0257	L	0.36672	1.1	0.09310	N	1	D;P	0.54772	0.968;0.912	B;B	0.40101	0.319;0.109	T	0.10019	-1.0648	10	0.66056	D	0.02	-18.3161	3.9797	0.09489	0.188:0.0:0.5523:0.2597	.	84;132	Q96S90-2;Q96S90	.;LYSM1_HUMAN	C	132;84	ENSP00000357904:R132C;ENSP00000404059:R84C	ENSP00000357904:R132C	R	-	1	0	LYSMD1	149400987	0.000000	0.05858	0.002000	0.10522	0.111000	0.19643	0.417000	0.21214	1.424000	0.47217	0.591000	0.81541	CGT		0.502	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		48	49	0	0	0	1	0	48	49				
FGD3	89846	broad.mit.edu	37	9	95796895	95796895	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95796895T>C	ENST00000375482.3	+	17	2354	c.1858T>C	c.(1858-1860)Tgg>Cgg	p.W620R	FGD3_ENST00000538555.1_Missense_Mutation_p.W223R|FGD3_ENST00000337352.6_Missense_Mutation_p.W620R|FGD3_ENST00000416701.2_Missense_Mutation_p.W619R	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	620	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGTGAGACCTGGAGCGAGGT	0.677																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1858-1860)Tgg>Cgg		FYVE, RhoGEF and PH domain containing 3							39.0	47.0	44.0					9																	95796895		2032	4184	6216	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95796895T>C	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1858T>C	9.37:g.95796895T>C	ENSP00000364631:p.Trp620Arg					FGD3_ENST00000416701.2_Missense_Mutation_p.W619R|FGD3_ENST00000538555.1_Missense_Mutation_p.W223R|FGD3_ENST00000337352.6_Missense_Mutation_p.W620R	p.W620R	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			17	2354	+			620			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1858T>C	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375449	0.42105	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.75704	-0.93;-0.91;-0.93;-0.96	4.29	4.29	0.51040	Pleckstrin homology domain (2);	0.000000	0.35585	N	0.003120	D	0.83977	0.5371	M	0.79693	2.465	0.52501	D	0.999955	D;P	0.54397	0.966;0.72	P;P	0.62435	0.902;0.779	D	0.86224	0.1633	10	0.87932	D	0	.	11.7083	0.51610	0.0:0.0:0.0:1.0	.	619;620	F8W7P2;Q5JSP0	.;FGD3_HUMAN	R	620;619;620;223	ENSP00000364631:W620R;ENSP00000413833:W619R;ENSP00000336914:W620R;ENSP00000442560:W223R	ENSP00000336914:W620R	W	+	1	0	FGD3	94836716	0.999000	0.42202	0.820000	0.32676	0.029000	0.11900	3.793000	0.55484	1.945000	0.56424	0.459000	0.35465	TGG		0.677	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		21	22	0	0	0	1	0	21	22				
SPATC1	375686	broad.mit.edu	37	8	145094990	145094990	+	Missense_Mutation	SNP	C	C	T	rs377285159		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145094990C>T	ENST00000377470.3	+	2	494	c.392C>T	c.(391-393)aCg>aTg	p.T131M	SPATC1_ENST00000447830.2_Missense_Mutation_p.T131M	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	131						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCACCCACGTCACAGAGC	0.667																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-393)aCg>aTg		spermatogenesis and centriole associated 1							52.0	46.0	48.0					8																	145094990		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145094990C>T	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.392C>T	8.37:g.145094990C>T	ENSP00000366690:p.Thr131Met					SPATC1_ENST00000447830.2_Missense_Mutation_p.T131M	p.T131M	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	494	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		131					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.392C>T	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	4.549	0.101959	0.08731	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.42131	0.98;0.98	4.19	-8.38	0.00973	.	2.886840	0.00732	N	0.000946	T	0.20210	0.0486	N	0.08118	0	0.09310	N	1	B;B	0.18610	0.029;0.001	B;B	0.11329	0.006;0.0	T	0.11421	-1.0588	10	0.30854	T	0.27	1.4066	8.0048	0.30319	0.0:0.4265:0.3716:0.202	.	131;131	B4DWW9;Q76KD6	.;SPERI_HUMAN	M	131	ENSP00000366690:T131M;ENSP00000387613:T131M	ENSP00000366690:T131M	T	+	2	0	SPATC1	145166978	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.481000	0.06552	-1.733000	0.01357	-3.272000	0.00048	ACG		0.667	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		8	11	0	0	0	1	0	8	11				
CD163	9332	broad.mit.edu	37	12	7640302	7640302	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7640302C>A	ENST00000359156.4	-	8	1938				CD163_ENST00000396620.3_Missense_Mutation_p.S601I|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AAAAAGACAGCTATGACTCCC	0.478																																						ENST00000396620.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1801-1803)aGc>aTc		CD163 molecule							71.0	75.0	74.0					12																	7640302		2203	4300	6503	SO:0001627	intron_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640302C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1736-33G>T	12.37:g.7640302C>A						CD163_ENST00000432237.2_Intron|CD163_ENST00000359156.4_Intron|CD163_ENST00000541972.1_Intron	p.S601I			Q86VB7	C163A_HUMAN			7	1887	-			579			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1802G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	2.232	-0.375891	0.05034	.	.	ENSG00000177575	ENST00000396620	T	0.01287	5.05	5.28	0.985	0.19779	.	.	.	.	.	T	0.00875	0.0029	.	.	.	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.49409	-0.8943	7	.	.	.	.	1.526	0.02526	0.1733:0.4712:0.1678:0.1876	.	601	C9JHR8	.	I	601	ENSP00000379863:S601I	.	S	-	2	0	CD163	7531569	.	.	0.009000	0.14445	0.012000	0.07955	.	.	0.660000	0.30964	0.655000	0.94253	AGC		0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		28	46	1	0	4.59853e-10	1	5.63411e-10	28	46				
COL24A1	255631	broad.mit.edu	37	1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3403-3405)cCt>cAt		collagen, type XXIV, alpha 1							148.0	138.0	141.0					1																	86313406		1865	4091	5956	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86313406G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3404C>A	1.37:g.86313406G>T	ENSP00000359603:p.Pro1135His					COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	39	3770	-			1135			Collagen-like 11.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3404C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	4.161	0.028325	0.08054	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98701	-5.08;-5.08	5.53	4.62	0.57501	.	0.000000	0.38058	N	0.001839	D	0.96898	0.8987	M	0.80982	2.52	0.22552	N	0.998991	B;B	0.25904	0.137;0.042	B;B	0.38683	0.279;0.007	D	0.95224	0.8336	10	0.48119	T	0.1	.	7.2398	0.26090	0.081:0.0:0.6546:0.2643	.	1135;1135	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	1135	ENSP00000359603:P1135H;ENSP00000392531:P1135H	ENSP00000359603:P1135H	P	-	2	0	COL24A1	86085994	0.874000	0.30092	0.978000	0.43139	0.377000	0.30045	3.233000	0.51311	1.343000	0.45638	-0.224000	0.12420	CCT		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		8	158	1	0	0.000442599	1	0.00048047	8	158				
USO1	8615	broad.mit.edu	37	4	76708250	76708250	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76708250T>C	ENST00000538159.1	+	10	897	c.897T>C	c.(895-897)ccT>ccC	p.P299P	USO1_ENST00000514213.2_Silent_p.P282P			O60763	USO1_HUMAN	USO1 vesicle transport factor	297	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAACCCTCCTGGTGCTACCA	0.438																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(895-897)ccT>ccC		USO1 vesicle transport factor							132.0	125.0	127.0					4																	76708250		1849	4103	5952	SO:0001819	synonymous_variant	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76708250T>C	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.897T>C	4.37:g.76708250T>C						USO1_ENST00000514213.2_Silent_p.P282P	p.P299P			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		10	897	+			297			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Silent	SNP	ENST00000538159.1	37	c.897T>C																																																																																					0.438	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		6	81	0	0	0	1	0	6	81				
SAMD10	140700	broad.mit.edu	37	20	62608449	62608449	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62608449G>A	ENST00000369886.3	-	3	494	c.320C>T	c.(319-321)tCg>tTg	p.S107L	ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	107										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCACCCAGCGAGGGGCTTGT	0.637																																						ENST00000369886.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7						c.(319-321)tCg>tTg		sterile alpha motif domain containing 10							62.0	61.0	61.0					20																	62608449		2203	4300	6503	SO:0001583	missense	140700							g.chr20:62608449G>A		CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"""Sterile alpha motif (SAM) domain containing"""	16129	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 136"""	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.320C>T	20.37:g.62608449G>A	ENSP00000358902:p.Ser107Leu					SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.S107L	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN			3	494	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		107						Missense_Mutation	SNP	ENST00000369886.3	37	c.320C>T	CCDS13549.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147010	0.37923	.	.	ENSG00000130590	ENST00000369886	T	0.27557	1.66	4.65	3.7	0.42460	Sterile alpha motif/pointed domain (1);	0.278561	0.33309	N	0.005041	T	0.15003	0.0362	N	0.08118	0	0.29840	N	0.829333	B	0.28208	0.203	B	0.20184	0.028	T	0.08700	-1.0709	10	0.41790	T	0.15	-3.0177	10.6986	0.45913	0.0901:0.0:0.9099:0.0	.	107	Q9BYL1	SAM10_HUMAN	L	107	ENSP00000358902:S107L	ENSP00000358902:S107L	S	-	2	0	SAMD10	62078893	1.000000	0.71417	0.734000	0.30879	0.374000	0.29953	7.441000	0.80485	0.956000	0.37904	0.460000	0.39030	TCG		0.637	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1	NM_080621		19	47	0	0	0	1	0	19	47				
MAF	4094	broad.mit.edu	37	16	79633850	79633850	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633850G>T	ENST00000393350.1	-	0	761				MAF_ENST00000326043.4_De_novo_Start_InFrame|MAF_ENST00000569649.1_5'Flank	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog						cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		ATGGGCTGCAGGAGAGGGGCC	0.721			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10								v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							9.0	11.0	10.0					16																	79633850		1300	2911	4211			4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633850G>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621		16.37:g.79633850G>T						MAF_ENST00000326043.4_De_novo_Start_InFrame		NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	0	761	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)						Q66I47|Q9UP93	Translation_Start_Site	SNP	ENST00000393350.1	37		CCDS42198.1																																																																																				0.721	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			6	10	1	0	3.59834e-05	1	4.01776e-05	6	10				
NBEAL2	23218	broad.mit.edu	37	3	47044503	47044503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47044503G>A	ENST00000450053.3	+	34	5695	c.5516G>A	c.(5515-5517)cGt>cAt	p.R1839H	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1655H|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R118H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1839			R -> C (in GPS). {ECO:0000269|PubMed:21765412}.		blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACGCATGCGTCTGAAGCTG	0.592																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(5515-5517)cGt>cAt		neurobeachin-like 2							68.0	74.0	72.0					3																	47044503		2073	4193	6266	SO:0001583	missense	23218						binding	g.chr3:47044503G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5516G>A	3.37:g.47044503G>A	ENSP00000415034:p.Arg1839His					NBEAL2_ENST00000383740.2_Missense_Mutation_p.R118H|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1655H	p.R1839H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	34	5695	+		Acute lymphoblastic leukemia(5;0.0534)	1839					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.5516G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.477219|5.477219	0.96291|0.96291	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000416683	T;T;T|.	0.71698|.	-0.49;0.24;-0.59|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.061247|.	0.64402|.	D|.	0.000006|.	T|T	0.78698|0.78698	0.4324|0.4324	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.981|.	T|T	0.80398|0.80398	-0.1399|-0.1399	10|5	0.87932|.	D|.	0|.	.|.	17.0743|17.0743	0.86582|0.86582	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1655;1839|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	H|I	1655;118;1839|1127	ENSP00000292309:R1655H;ENSP00000373246:R118H;ENSP00000415034:R1839H|.	ENSP00000292309:R1655H|.	R|V	+|+	2|1	0|0	NBEAL2|NBEAL2	47019507|47019507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.263000|9.263000	0.95617|0.95617	2.610000|2.610000	0.88304|0.88304	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		12	19	0	0	0	1	0	12	19				
HDAC4	9759	broad.mit.edu	37	2	240029749	240029749	+	Silent	SNP	G	G	A	rs202027297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240029749G>A	ENST00000345617.3	-	15	2885	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	HDAC4_ENST00000543185.1_Silent_p.C282C|HDAC4_ENST00000541256.1_Silent_p.C672C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	698	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTTACCTCGCATTTGCCCC	0.672																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2092-2094)tgC>tgT		histone deacetylase 4							28.0	30.0	29.0					2																	240029749		2201	4296	6497	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240029749G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2094C>T	2.37:g.240029749G>A						HDAC4_ENST00000543185.1_Silent_p.C282C|HDAC4_ENST00000541256.1_Silent_p.C672C	p.C698C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	15	2885	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	698			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2094C>T	CCDS2529.1																																																																																				0.672	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		10	8	0	0	0	1	0	10	8				
CEL	1056	broad.mit.edu	37	9	135945982	135945982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135945982G>A	ENST00000372080.4	+	10	1446	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	474					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACGGGCTACCGGCCCCAAGAC	0.607																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1429-1431)cGg>cAg		carboxyl ester lipase							83.0	94.0	91.0					9																	135945982		1989	4152	6141	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135945982G>A	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1430G>A	9.37:g.135945982G>A	ENSP00000361151:p.Arg477Gln					CEL_ENST00000351304.7_Intron	p.R477Q	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1446	+			474					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.1430G>A	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	7.287	0.610382	0.14066	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.58797	0.31	5.69	2.88	0.33553	Carboxylesterase, type B (1);	0.662303	0.16566	N	0.208852	T	0.36441	0.0967	L	0.38531	1.155	0.80722	D	1	P	0.44946	0.846	B	0.29598	0.104	T	0.08249	-1.0731	10	0.38643	T	0.18	.	6.8911	0.24230	0.2049:0.0:0.6717:0.1235	.	474	P19835	CEL_HUMAN	Q	477;476	ENSP00000361151:R477Q	ENSP00000304021:R476Q	R	+	2	0	CEL	134935803	0.384000	0.25164	0.272000	0.24630	0.109000	0.19521	0.536000	0.23129	0.358000	0.24211	-0.353000	0.07706	CGG		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			8	101	0	0	0	1	0	8	101				
RRAD	6236	broad.mit.edu	37	16	66956204	66956204	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66956204C>T	ENST00000299759.6	-	5	952	c.702G>A	c.(700-702)gcG>gcA	p.A234A	RRAD_ENST00000420652.1_Silent_p.A234A			P55042	RAD_HUMAN	Ras-related associated with diabetes	234					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGTGCAATGCCGCTGATGTCT	0.592																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(700-702)gcG>gcA		Ras-related associated with diabetes							76.0	65.0	69.0					16																	66956204		2200	4300	6500	SO:0001819	synonymous_variant	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956204C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.702G>A	16.37:g.66956204C>T						RRAD_ENST00000420652.1_Silent_p.A234A	p.A234A			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	952	-		Ovarian(137;0.192)	234					Q96F39	Silent	SNP	ENST00000299759.6	37	c.702G>A	CCDS10824.1																																																																																				0.592	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		19	40	0	0	0	1	0	19	40				
ARPP21	10777	broad.mit.edu	37	3	35729275	35729275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35729275G>T	ENST00000187397.4	+	6	762	c.306G>T	c.(304-306)gaG>gaT	p.E102D	ARPP21_ENST00000444190.1_Missense_Mutation_p.E102D|ARPP21_ENST00000337271.5_Missense_Mutation_p.E102D|ARPP21_ENST00000458225.1_Missense_Mutation_p.E102D|ARPP21_ENST00000417925.1_Missense_Mutation_p.E102D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	102					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCTGCAAGAGGAGGATAAAT	0.348																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(304-306)gaG>gaT		cAMP-regulated phosphoprotein, 21kDa							65.0	70.0	68.0					3																	35729275		2199	4296	6495	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35729275G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.306G>T	3.37:g.35729275G>T	ENSP00000187397:p.Glu102Asp					ARPP21_ENST00000458225.1_Missense_Mutation_p.E102D|ARPP21_ENST00000337271.5_Missense_Mutation_p.E102D|ARPP21_ENST00000444190.1_Missense_Mutation_p.E102D|ARPP21_ENST00000417925.1_Missense_Mutation_p.E102D	p.E102D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			6	762	+			102					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.306G>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367873	0.82463	.	.	ENSG00000172995	ENST00000450234;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T;T	0.55413	0.52;1.79;1.79;1.79;1.81;1.79	5.78	4.9	0.64082	.	0.177776	0.48286	D	0.000196	T	0.64627	0.2615	L	0.60455	1.87	0.39351	D	0.96575	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.986;0.994	T	0.65245	-0.6215	10	0.48119	T	0.1	-25.2375	8.8468	0.35174	0.1646:0.0:0.8354:0.0	.	102;102;102	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	D	102	ENSP00000411644:E102D;ENSP00000414351:E102D;ENSP00000337792:E102D;ENSP00000405276:E102D;ENSP00000187397:E102D;ENSP00000412326:E102D	ENSP00000187397:E102D	E	+	3	2	ARPP21	35704279	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.663000	0.46774	2.730000	0.93505	0.650000	0.86243	GAG		0.348	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		5	89	1	0	0.014758	1	0.0152625	5	89				
PARVA	55742	broad.mit.edu	37	11	12518085	12518085	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12518085C>A	ENST00000550549.1	+	5	530	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	PARVA_ENST00000538608.1_Missense_Mutation_p.L108M|PARVA_ENST00000539723.1_Missense_Mutation_p.L161M|PARVA_ENST00000334956.8_Missense_Mutation_p.L201M			Q9NVD7	PARVA_HUMAN	parvin, alpha	161	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCAGACTGTCCTGGAGAAGAT	0.468																																						ENST00000334956.8																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11						c.(601-603)Ctg>Atg		parvin, alpha							60.0	62.0	61.0					11																	12518085		1917	4126	6043	SO:0001583	missense	55742				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	g.chr11:12518085C>A	AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.481C>A	11.37:g.12518085C>A	ENSP00000447198:p.Leu161Met					PARVA_ENST00000538608.1_Missense_Mutation_p.L108M|PARVA_ENST00000539723.1_Missense_Mutation_p.L161M|PARVA_ENST00000550549.1_Missense_Mutation_p.L161M	p.L201M	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN		Epithelial(150;0.00624)	5	944	+			161			CH 1.		Q96C85|Q9HA48	Missense_Mutation	SNP	ENST00000550549.1	37	c.601C>A		.	.	.	.	.	.	.	.	.	.	C	17.48	3.399089	0.62177	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549;ENST00000538608;ENST00000528916	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.68	1.22	0.21188	Calponin homology domain (5);	0.085210	0.49305	D	0.000156	T	0.73241	0.3562	M	0.81942	2.565	0.51012	D	0.999901	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.982	T	0.74575	-0.3620	10	0.59425	D	0.04	-22.2087	11.5573	0.50755	0.0:0.7103:0.0:0.2897	.	108;161	B7Z952;Q9NVD7	.;PARVA_HUMAN	M	201;161;161;108;125	ENSP00000334008:L201M;ENSP00000438967:L161M;ENSP00000447198:L161M;ENSP00000442960:L108M;ENSP00000435860:L125M	ENSP00000334008:L201M	L	+	1	2	PARVA	12474661	0.991000	0.36638	0.989000	0.46669	0.990000	0.78478	1.557000	0.36299	0.356000	0.24157	0.585000	0.79938	CTG		0.468	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		6	10	1	0	0.217242	1	0.218821	6	10				
GPC1	2817	broad.mit.edu	37	2	241398589	241398589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241398589G>T	ENST00000264039.2	+	2	557	c.309G>T	c.(307-309)caG>caT	p.Q103H	AC110619.2_ENST00000404327.3_5'Flank|AC110619.2_ENST00000404891.1_5'Flank	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	103					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TTGCCACCCAGCTGCGCAGCT	0.706																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(307-309)caG>caT		glypican 1							25.0	26.0	26.0					2																	241398589		2196	4297	6493	SO:0001583	missense	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241398589G>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.309G>T	2.37:g.241398589G>T	ENSP00000264039:p.Gln103His						p.Q103H	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	2	557	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	103					B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	c.309G>T	CCDS2534.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.22|14.22|14.22	2.471868|2.471868|2.471868	0.43942|0.43942|0.43942	.|.|.	.|.|.	ENSG00000063660|ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000264039;ENST00000426280|ENST00000427506;ENST00000425056	.|T;T|.	.|0.52057|.	.|0.68;0.68|.	3.14|3.14|3.14	1.25|1.25|1.25	0.21368|0.21368|0.21368	.|.|.	.|0.071226|.	.|0.64402|.	.|D|.	.|0.000014|.	T|T|T	0.64549|0.64549|0.64549	0.2608|0.2608|0.2608	M|M|M	0.78916|0.78916|0.78916	2.43|2.43|2.43	0.48571|0.48571|0.48571	D|D|D	0.999676|0.999676|0.999676	.|D|.	.|0.64830|.	.|0.994|.	.|D|.	.|0.67231|.	.|0.95|.	T|T|T	0.62334|0.62334|0.62334	-0.6876|-0.6876|-0.6876	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-34.2233|-34.2233|-34.2233	6.8402|6.8402|6.8402	0.23959|0.23959|0.23959	0.2624:0.0:0.7376:0.0|0.2624:0.0:0.7376:0.0|0.2624:0.0:0.7376:0.0	.|.|.	.|103|.	.|P35052|.	.|GPC1_HUMAN|.	S|H|I	143|103;53|60;99	.|ENSP00000264039:Q103H;ENSP00000410251:Q53H|.	.|ENSP00000264039:Q103H|.	A|Q|S	+|+|+	1|3|2	0|2|0	GPC1|GPC1|GPC1	241047262|241047262|241047262	0.628000|0.628000|0.628000	0.27138|0.27138|0.27138	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.393000|0.393000|0.393000	0.30537|0.30537|0.30537	0.987000|0.987000|0.987000	0.29603|0.29603|0.29603	0.663000|0.663000|0.663000	0.31027|0.31027|0.31027	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GCT|CAG|AGC		0.706	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		5	11	1	0	0.000602214	1	0.000649039	5	11				
PARM1	25849	broad.mit.edu	37	4	75938264	75938264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75938264G>A	ENST00000307428.7	+	2	885	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	225					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACAACTGTGTCAGGCAA	0.532																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(673-675)Gtg>Atg		prostate androgen-regulated mucin-like protein 1							106.0	112.0	110.0					4																	75938264		2087	4223	6310	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938264G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.673G>A	4.37:g.75938264G>A	ENSP00000370224:p.Val225Met					RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	p.V225M	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	885	+			225					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.673G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765401	0.49574	.	.	ENSG00000169116	ENST00000307428	T	0.49720	0.77	5.54	1.67	0.24075	.	0.769305	0.11688	N	0.539188	T	0.42966	0.1226	L	0.29908	0.895	0.09310	N	1	D	0.54207	0.965	P	0.53313	0.723	T	0.20240	-1.0281	10	0.39692	T	0.17	-0.001	5.8068	0.18444	0.1713:0.2987:0.53:0.0	.	225	Q6UWI2	PARM1_HUMAN	M	225	ENSP00000370224:V225M	ENSP00000370224:V225M	V	+	1	0	PARM1	76157288	0.000000	0.05858	0.008000	0.14137	0.051000	0.14879	0.300000	0.19156	0.253000	0.21552	0.557000	0.71058	GTG		0.532	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		6	45	0	0	0	1	0	6	45				
ZNF276	92822	broad.mit.edu	37	16	89795646	89795646	+	Silent	SNP	C	C	T	rs377108755		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89795646C>T	ENST00000443381.2	+	6	1186	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	ZNF276_ENST00000568064.1_Silent_p.D271D|ZNF276_ENST00000289816.5_Silent_p.D288D|ZNF276_ENST00000446326.2_Silent_p.D149D	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCCTAGAGACGTCTTGAGTG	0.512																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(862-864)gaC>gaT		zinc finger protein 276							75.0	77.0	77.0					16																	89795646		2198	4300	6498	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89795646C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1089C>T	16.37:g.89795646C>T						ZNF276_ENST00000446326.2_Silent_p.D149D|ZNF276_ENST00000443381.2_Silent_p.D363D|ZNF276_ENST00000568064.1_Silent_p.D271D	p.D288D	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	6	1176	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	363					Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.864C>T	CCDS45554.1																																																																																				0.512	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		19	38	0	0	0	1	0	19	38				
LRFN5	145581	broad.mit.edu	37	14	42356643	42356643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356643G>A	ENST00000298119.4	+	3	2004	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LRFN5_ENST00000554120.1_Missense_Mutation_p.R272H|LRFN5_ENST00000554171.1_Missense_Mutation_p.R272H	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	272	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTAACTGGCCGCTACTTTTGG	0.468										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(814-816)cGc>cAc		leucine rich repeat and fibronectin type III domain containing 5							147.0	146.0	146.0					14																	42356643		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356643G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.815G>A	14.37:g.42356643G>A	ENSP00000298119:p.Arg272His	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.R272H|LRFN5_ENST00000554120.1_Missense_Mutation_p.R272H	p.R272H			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3247	+			272			LRRCT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.815G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461741	0.26248	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54479	0.57;0.57;0.57	5.39	4.51	0.55191	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.56097	D	0.000029	T	0.72407	0.3456	M	0.83852	2.665	0.51767	D	0.999937	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.75485	-0.3301	10	0.52906	T	0.07	.	12.2127	0.54389	0.0834:0.0:0.9166:0.0	.	272;272	G3V364;Q96NI6	.;LRFN5_HUMAN	H	272	ENSP00000298119:R272H;ENSP00000451897:R272H;ENSP00000451067:R272H	ENSP00000298119:R272H	R	+	2	0	LRFN5	41426393	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	8.009000	0.88606	1.409000	0.46915	-0.262000	0.10625	CGC		0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		50	67	0	0	0	1	0	50	67				
POLR3B	55703	broad.mit.edu	37	12	106903274	106903274	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903274C>T	ENST00000228347.4	+	28	3571	c.3349C>T	c.(3349-3351)Cta>Tta	p.L1117L	POLR3B_ENST00000539066.1_Silent_p.L1059L|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1117					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTTCCAGGAACTACAGTCTAT	0.443																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3349-3351)Cta>Tta		polymerase (RNA) III (DNA directed) polypeptide B							155.0	130.0	139.0					12																	106903274		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903274C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3349C>T	12.37:g.106903274C>T						POLR3B_ENST00000539066.1_Silent_p.L1059L|RP11-144F15.1_ENST00000551505.1_Intron	p.L1117L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			28	3571	+			1117					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.3349C>T	CCDS9105.1																																																																																				0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		21	57	0	0	0	1	0	21	57				
BSN	8927	broad.mit.edu	37	3	49699822	49699822	+	Missense_Mutation	SNP	G	G	A	rs547338350		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49699822G>A	ENST00000296452.4	+	6	10658	c.10544G>A	c.(10543-10545)cGc>cAc	p.R3515H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3515					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGAGGCCCCGCCCTGCCGGA	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14094	0.0		0.0	False		,,,				2504	0.0					ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(10543-10545)cGc>cAc		bassoon presynaptic cytomatrix protein							26.0	31.0	29.0					3																	49699822		2203	4298	6501	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699822G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10544G>A	3.37:g.49699822G>A	ENSP00000296452:p.Arg3515His						p.R3515H	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10658	+			3515					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.10544G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429871	0.25726	.	.	ENSG00000164061	ENST00000296452	T	0.23552	1.9	5.81	4.01	0.46588	.	0.212710	0.41500	D	0.000875	T	0.25457	0.0619	L	0.50333	1.59	0.37916	D	0.931537	B	0.17268	0.021	B	0.09377	0.004	T	0.09618	-1.0666	10	0.87932	D	0	-6.9954	12.9308	0.58286	0.1322:0.0:0.8678:0.0	.	3515	Q9UPA5	BSN_HUMAN	H	3515	ENSP00000296452:R3515H	ENSP00000296452:R3515H	R	+	2	0	BSN	49674826	0.975000	0.34042	0.609000	0.28983	0.991000	0.79684	2.810000	0.47979	0.795000	0.33922	0.655000	0.94253	CGC		0.662	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	17	0	0	0	1	0	10	17				
DCTD	1635	broad.mit.edu	37	4	183814219	183814219	+	Silent	SNP	C	C	T	rs147036938		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183814219C>T	ENST00000438320.2	-	5	713	c.423G>A	c.(421-423)gcG>gcA	p.A141A	DCTD_ENST00000510370.1_Silent_p.A141A|DCTD_ENST00000357067.3_Silent_p.A152A	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	141					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	ACAGGAGCCTCGCAGCAGTTG	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16869	0.0		0.0	False		,,,				2504	0.0					ENST00000438320.2																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18						c.(421-423)gcG>gcA		dCMP deaminase		C	,	2,4404	6.2+/-15.9	0,2,2201	69.0	64.0	66.0		456,423	-10.8	0.1	4	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DCTD	NM_001012732.1,NM_001921.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	152/190,141/179	183814219	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1635				nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	g.chr4:183814219C>T	L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.423G>A	4.37:g.183814219C>T						DCTD_ENST00000510370.1_Silent_p.A141A|DCTD_ENST00000357067.3_Silent_p.A152A	p.A141A	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	5	713	-		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)	141					B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Silent	SNP	ENST00000438320.2	37	c.423G>A	CCDS3831.1																																																																																				0.498	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			4	22	0	0	0	1	0	4	22				
ASAP1	50807	broad.mit.edu	37	8	131191542	131191542	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131191542C>T	ENST00000518721.1	-	9	941	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ASAP1_ENST00000357668.1_Silent_p.Q238Q	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	238					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.Q238H(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTATAAGATTCTGCAGCAGAT	0.368																																						ENST00000357668.1																			1	Substitution - Missense(1)	p.Q238H(1)	endometrium(1)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(712-714)caG>caA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							170.0	154.0	159.0					8																	131191542		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131191542C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.714G>A	8.37:g.131191542C>T						ASAP1_ENST00000518721.1_Silent_p.Q238Q	p.Q238Q			Q9ULH1	ASAP1_HUMAN			8	741	-			238					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.714G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	c	9.791	1.177932	0.21787	.	.	ENSG00000153317	ENST00000524124	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.75347	0.3837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72802	-0.4183	4	.	.	.	.	19.0062	0.92852	0.0:1.0:0.0:0.0	.	.	.	.	K	56	.	.	E	-	1	0	ASAP1	131260724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.721000	0.54941	2.723000	0.93209	0.637000	0.83480	GAA		0.368	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		18	29	0	0	0	1	0	18	29				
TTN	7273	broad.mit.edu	37	2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179639038C>T	ENST00000591111.1	-	30	7177	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2318H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN_ENST00000360870.5_Missense_Mutation_p.R2318H			Q8WZ42	TITIN_HUMAN	titin	12640	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACGTCCACGACGAGATGT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6952-6954)cGt>cAt		titin							176.0	161.0	166.0					2																	179639038		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639038C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6953G>A	2.37:g.179639038C>T	ENSP00000465570:p.Arg2318His					TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000360870.5_Missense_Mutation_p.R2318H|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R2318H	p.R2318H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7177	-			2033			Ig-like 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6953G>A		.	.	.	.	.	.	.	.	.	.	C	16.23	3.065125	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56171	0.1967	L	0.29908	0.895	0.39107	D	0.961397	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.60885	-0.7174	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2272;2272;2272;2318;2318	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2318;2272;2272;2272;2272;2318	ENSP00000343764:R2318H;ENSP00000434586:R2272H;ENSP00000340554:R2272H;ENSP00000352154:R2272H;ENSP00000354117:R2318H	ENSP00000340554:R2272H	R	-	2	0	TTN	179347283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	CGT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	103	0	0	0	1	0	12	103				
SLC26A4	5172	broad.mit.edu	37	7	107330592	107330592	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107330592C>T	ENST00000265715.3	+	10	1397	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	SLC26A4_ENST00000544569.1_5'Flank|SLC26A4_ENST00000541474.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	391			S -> N (in PDS). {ECO:0000269|PubMed:15355436}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGGATCAGCAACATCTTCT	0.473									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46	GRCh37	CM068338	SLC26A4	M		c.(1171-1173)agC>agT		solute carrier family 26 (anion exchanger), member 4							192.0	174.0	180.0					7																	107330592		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107330592C>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1173C>T	7.37:g.107330592C>T							p.S391S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			10	1397	+			391		S -> N (in PDS).			B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1173C>T	CCDS5746.1																																																																																				0.473	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		14	102	0	0	0	1	0	14	102				
PEX16	9409	broad.mit.edu	37	11	45935911	45935911	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935911T>G	ENST00000378750.5	-	7	893	c.650A>C	c.(649-651)gAg>gCg	p.E217A	PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000532681.1_Missense_Mutation_p.E122A|PEX16_ENST00000241041.3_Missense_Mutation_p.E217A			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	217					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCGATGGTCTCCTGCAGCCC	0.662																																						ENST00000532681.1																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(364-366)gAg>gCg		peroxisomal biogenesis factor 16							36.0	44.0	41.0					11																	45935911		2203	4299	6502	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45935911T>G	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.650A>C	11.37:g.45935911T>G	ENSP00000368024:p.Glu217Ala					PEX16_ENST00000241041.3_Missense_Mutation_p.E217A|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000378750.5_Missense_Mutation_p.E217A	p.E122A			Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	7	1228	-			217					Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	c.365A>C	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425582	0.83667	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.8	5.8	0.92144	.	0.048027	0.85682	D	0.000000	T	0.31796	0.0808	M	0.72118	2.19	0.58432	D	0.999998	D;P	0.54964	0.969;0.907	P;P	0.48815	0.55;0.591	T	0.18147	-1.0346	10	0.09084	T	0.74	-28.3519	10.4759	0.44665	0.0:0.0723:0.0:0.9277	.	217;217	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	A	217;217;122;113;122	ENSP00000241041:E217A;ENSP00000368024:E217A;ENSP00000434654:E122A;ENSP00000433045:E113A;ENSP00000431309:E122A	ENSP00000241041:E217A	E	-	2	0	PEX16	45892487	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.522000	0.45572	2.217000	0.71921	0.448000	0.29417	GAG		0.662	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		17	36	0	0	0	1	0	17	36				
MICAL3	57553	broad.mit.edu	37	22	18300809	18300809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18300809G>A	ENST00000441493.2	-	26	4970	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1540					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AATTTCTCCTGCAGGCTTGAG	0.622																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4618-4620)Cag>Tag		microtubule associated monooxygenase, calponin and LIM domain containing 3							40.0	42.0	41.0					22																	18300809		2042	4192	6234	SO:0001587	stop_gained	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300809G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4618C>T	22.37:g.18300809G>A	ENSP00000416015:p.Gln1540*						p.Q1540*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4970	-		all_epithelial(15;0.198)	1540					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Nonsense_Mutation	SNP	ENST00000441493.2	37	c.4618C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	45	11.900899	0.99615	.	.	ENSG00000093100	ENST00000441493	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	17.5733	0.87941	0.0:0.0:1.0:0.0	.	.	.	.	X	1540	.	ENSP00000416015:Q1540X	Q	-	1	0	XXbac-B461K10.4	16680809	1.000000	0.71417	0.997000	0.53966	0.295000	0.27426	4.831000	0.62752	2.146000	0.66826	0.561000	0.74099	CAG		0.622	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			12	19	0	0	0	1	0	12	19				
ANK3	288	broad.mit.edu	37	10	61932131	61932131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61932131G>A	ENST00000280772.2	-	21	2604	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	ANK3_ENST00000373827.2_Missense_Mutation_p.R799C|ANK3_ENST00000503366.1_Missense_Mutation_p.R788C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	805					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGCCGAGGCGCCGGGCAATG	0.458																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2413-2415)Cgc>Tgc		ankyrin 3, node of Ranvier (ankyrin G)							98.0	91.0	94.0					10																	61932131		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61932131G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2413C>T	10.37:g.61932131G>A	ENSP00000280772:p.Arg805Cys					ANK3_ENST00000503366.1_Missense_Mutation_p.R788C|ANK3_ENST00000373827.2_Missense_Mutation_p.R799C	p.R805C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			21	2604	-			805					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2413C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866313	0.51588	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.19250	2.35;2.16;2.16	5.78	1.26	0.21427	Ankyrin repeat-containing domain (3);	0.000000	0.34906	N	0.003600	T	0.42108	0.1188	L	0.54908	1.71	0.80722	D	1	P;D;D;D;D	0.89917	0.771;1.0;1.0;1.0;1.0	B;D;D;D;D	0.97110	0.15;0.994;0.939;1.0;0.998	T	0.49428	-0.8941	10	0.87932	D	0	.	18.2442	0.89979	0.0:0.0:0.6162:0.3838	.	788;466;349;799;805	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	C	805;799;788;767;466;461;349	ENSP00000280772:R805C;ENSP00000362933:R799C;ENSP00000425236:R788C	ENSP00000280772:R805C	R	-	1	0	ANK3	61602137	0.987000	0.35691	0.871000	0.34182	0.308000	0.27856	1.708000	0.37899	0.301000	0.22738	0.650000	0.86243	CGC		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	27	0	0	0	1	0	10	27				
RBMX2	51634	broad.mit.edu	37	X	129546422	129546422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129546422G>T	ENST00000305536.6	+	6	633	c.569G>T	c.(568-570)aGa>aTa	p.R190I		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	190	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCGTCACCCAGACGCAAGACA	0.478																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(568-570)aGa>aTa		RNA binding motif protein, X-linked 2							55.0	55.0	55.0					X																	129546422		1955	4125	6080	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129546422G>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.569G>T	X.37:g.129546422G>T	ENSP00000339090:p.Arg190Ile						p.R190I	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			6	633	+			190			Lys-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.569G>T	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275291	0.40194	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.13538	2.58	4.31	3.44	0.39384	.	0.235521	0.31358	N	0.007795	T	0.09949	0.0244	L	0.34521	1.04	0.21697	N	0.999583	P	0.50272	0.933	B	0.42882	0.401	T	0.17531	-1.0366	10	0.38643	T	0.18	.	6.3156	0.21188	0.1349:0.0:0.8651:0.0	.	190	Q9Y388	RBMX2_HUMAN	I	190	ENSP00000339090:R190I	ENSP00000339090:R190I	R	+	2	0	RBMX2	129374103	0.025000	0.19082	0.875000	0.34327	0.082000	0.17680	1.667000	0.37471	2.108000	0.64289	0.600000	0.82982	AGA		0.478	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		4	69	1	0	2.56e-06	1	2.9446e-06	4	69				
SLC38A9	153129	broad.mit.edu	37	5	54929684	54929684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54929684G>A	ENST00000396865.2	-	14	1919	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000416547.2_Missense_Mutation_p.A319V|SLC38A9_ENST00000515629.1_Missense_Mutation_p.A380V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.A443V|SLC38A9_ENST00000512595.1_Missense_Mutation_p.A380V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	443					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAATATCCTTGCAATGAAGGA	0.413																																						ENST00000396865.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1327-1329)gCa>gTa		solute carrier family 38, member 9							121.0	104.0	110.0					5																	54929684		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929684G>A		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1328C>T	5.37:g.54929684G>A	ENSP00000380074:p.Ala443Val					SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Missense_Mutation_p.A380V|SLC38A9_ENST00000416547.2_Missense_Mutation_p.A319V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.A443V|SLC38A9_ENST00000512595.1_Missense_Mutation_p.A380V	p.A443V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN			14	1919	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	443					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.1328C>T	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472110	0.84533	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233	T;T;T;T;T;T	0.31769	4.47;4.47;4.47;4.47;4.47;1.48	5.42	3.48	0.39840	.	0.102000	0.64402	D	0.000003	T	0.47395	0.1443	M	0.67700	2.07	0.80722	D	1	D;P	0.63880	0.993;0.801	P;B	0.60286	0.872;0.425	T	0.46289	-0.9202	10	0.13470	T	0.59	-2.7649	17.2701	0.87098	0.0:0.2526:0.7474:0.0	.	380;443	B3KXV1;Q8NBW4	.;S38A9_HUMAN	V	443;443;380;319;380;358	ENSP00000380074:A443V;ENSP00000316596:A443V;ENSP00000420934:A380V;ENSP00000397429:A319V;ENSP00000427335:A380V;ENSP00000423219:A358V	ENSP00000316596:A443V	A	-	2	0	SLC38A9	54965441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.481000	0.73608	1.228000	0.43614	0.655000	0.94253	GCA		0.413	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		18	23	0	0	0	1	0	18	23				
WDR33	55339	broad.mit.edu	37	2	128476856	128476856	+	Missense_Mutation	SNP	G	G	A	rs138525316		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128476856G>A	ENST00000322313.4	-	16	2901	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	915					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAGGGGGCCCGGGGCCCATCA	0.517																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2743-2745)Cgg>Tgg		WD repeat domain 33		G	TRP/ARG	1,4405		0,1,2202	102.0	114.0	110.0		2743	4.3	1.0	2	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR33	NM_018383.4	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	915/1337	128476856	2,13004	2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128476856G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2743C>T	2.37:g.128476856G>A	ENSP00000325377:p.Arg915Trp						p.R915W	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2901	-	Colorectal(110;0.1)		915					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2743C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262841	0.59431	2.27E-4	1.16E-4	ENSG00000136709	ENST00000322313	D	0.90788	-2.73	5.25	4.34	0.51931	.	0.160321	0.43416	D	0.000562	D	0.90597	0.7052	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.91703	0.5375	10	0.87932	D	0	-14.0339	13.0355	0.58867	0.0:0.0:0.7072:0.2928	.	915	Q9C0J8	WDR33_HUMAN	W	915	ENSP00000325377:R915W	ENSP00000325377:R915W	R	-	1	2	WDR33	128193326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.151000	0.50670	1.267000	0.44247	0.563000	0.77884	CGG		0.517	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		10	151	0	0	0	1	0	10	151				
DHX16	8449	broad.mit.edu	37	6	30623075	30623075	+	Missense_Mutation	SNP	C	C	A	rs376706838		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30623075C>A	ENST00000376442.3	-	18	2895	c.2700G>T	c.(2698-2700)gaG>gaT	p.E900D	DHX16_ENST00000376437.5_Missense_Mutation_p.E419D	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	900					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GTACAAAGTTCTCATAGCACC	0.512																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(2698-2700)gaG>gaT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							74.0	74.0	74.0					6																	30623075		2203	4300	6503	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30623075C>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2700G>T	6.37:g.30623075C>A	ENSP00000365625:p.Glu900Asp					DHX16_ENST00000376437.5_Missense_Mutation_p.E419D	p.E900D	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			18	2895	-			900					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.2700G>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575011	0.45902	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.02579	4.24;4.24	5.7	0.764	0.18465	.	0.000000	0.85682	D	0.000000	T	0.01092	0.0036	L	0.43646	1.37	0.58432	D	0.999994	B;B;B	0.23937	0.094;0.004;0.003	B;B;B	0.21360	0.034;0.005;0.008	T	0.50440	-0.8828	10	0.33141	T	0.24	.	9.941	0.41580	0.0:0.6404:0.0:0.3596	.	840;900;419	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	D	900;419	ENSP00000365625:E900D;ENSP00000365620:E419D	ENSP00000365620:E419D	E	-	3	2	DHX16	30731054	0.993000	0.37304	0.999000	0.59377	0.996000	0.88848	0.443000	0.21644	0.065000	0.16485	0.561000	0.74099	GAG		0.512	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		26	54	1	0	1.66031e-10	1	2.04717e-10	26	54				
FAT2	2196	broad.mit.edu	37	5	150947377	150947377	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947377A>G	ENST00000261800.5	-	1	1128	c.1116T>C	c.(1114-1116)agT>agC	p.S372S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	372	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAAACTCACTAAGCTGCA	0.507																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1114-1116)agT>agC		FAT atypical cadherin 2							64.0	67.0	66.0					5																	150947377		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947377A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1116T>C	5.37:g.150947377A>G							p.S372S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1128	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	372			Cadherin 3.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1116T>C	CCDS4317.1																																																																																				0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	52	0	0	0	1	0	5	52				
TTI1	9675	broad.mit.edu	37	20	36640081	36640081	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36640081G>T	ENST00000373448.2	-	3	2376	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	TTI1_ENST00000449821.1_Missense_Mutation_p.P713H|TTI1_ENST00000373447.3_Missense_Mutation_p.P713H|TTI1_ENST00000487362.1_5'Flank	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	713					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGGGTATGAGGATGCAGAGC	0.498																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2137-2139)cCt>cAt		TELO2 interacting protein 1							79.0	67.0	71.0					20																	36640081		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640081G>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2138C>A	20.37:g.36640081G>T	ENSP00000362547:p.Pro713His					TTI1_ENST00000373447.3_Missense_Mutation_p.P713H|TTI1_ENST00000449821.1_Missense_Mutation_p.P713H	p.P713H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2376	-			713					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2138C>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614636	0.46631	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.65732	-0.17;-0.17;-0.17	5.23	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.157358	0.64402	N	0.000018	T	0.75369	0.3840	M	0.74881	2.28	0.47905	D	0.999542	D	0.89917	1.0	D	0.79108	0.992	T	0.74937	-0.3494	10	0.39692	T	0.17	-11.0469	10.2754	0.43507	0.0:0.1471:0.7001:0.1528	.	713	O43156	TTI1_HUMAN	H	713	ENSP00000362547:P713H;ENSP00000362546:P713H;ENSP00000407270:P713H	ENSP00000362546:P713H	P	-	2	0	TTI1	36073495	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	7.187000	0.77730	1.425000	0.47237	-0.169000	0.13324	CCT		0.498	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		6	31	1	0	0.0215528	1	0.0221649	6	31				
USP3	9960	broad.mit.edu	37	15	63880966	63880966	+	Silent	SNP	C	C	T	rs528833471		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63880966C>T	ENST00000380324.3	+	13	1410	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000539772.1_Silent_p.Y178Y|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000268049.7_Silent_p.Y405Y|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000558285.1_Silent_p.Y410Y|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000540797.1_Silent_p.Y383Y|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000559711.1_Silent_p.Y338Y	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	427	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTGATACATACGTAGAATTTC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		22393	0.0		0.0	False		,,,				2504	0.001					ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(1213-1215)taC>taT		ubiquitin specific peptidase 3							115.0	117.0	117.0					15																	63880966		2203	4300	6503	SO:0001819	synonymous_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63880966C>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1281C>T	15.37:g.63880966C>T						USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Silent_p.Y383Y|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000380324.3_Silent_p.Y427Y|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000539772.1_Silent_p.Y178Y|USP3_ENST00000559711.1_Silent_p.Y338Y|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Silent_p.Y410Y	p.Y405Y			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	14	1539	+			427					B4DVU5|F5H1A6|Q8WVD0	Silent	SNP	ENST00000380324.3	37	c.1215C>T	CCDS32265.1																																																																																				0.373	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			34	55	0	0	0	1	0	34	55				
TMEM246	84302	broad.mit.edu	37	9	104238211	104238211	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104238211G>A	ENST00000374851.1	-	4	2311	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Silent_p.I388I|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Silent_p.I388I|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	388						integral component of membrane (GO:0016021)											AGAAGAGCCCGATGTGTTTCA	0.522																																						ENST00000374851.1																			0											c.(1162-1164)atC>atT		transmembrane protein 246							102.0	99.0	100.0					9																	104238211		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238211G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1164C>T	9.37:g.104238211G>A						RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Silent_p.I388I|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Silent_p.I388I	p.I388I			Q9BRR3	CI125_HUMAN			4	2311	-			388					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.1164C>T	CCDS6757.1																																																																																				0.522	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		4	52	0	0	0	1	0	4	52				
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(580-582)Ctg>Atg		symplekin							111.0	92.0	98.0					19																	46351106		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351106G>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.580C>A	19.37:g.46351106G>T	ENSP00000245934:p.Leu194Met						p.L194M	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	824	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	194					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.580C>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253472	0.59212	.	.	ENSG00000125755	ENST00000245934	T	0.51325	0.71	5.5	2.29	0.28610	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.63843	1.955	0.41784	D	0.989833	D;P	0.63046	0.992;0.849	D;P	0.65573	0.936;0.811	T	0.52764	-0.8532	10	0.35671	T	0.21	.	7.2308	0.26040	0.335:0.0:0.665:0.0	.	209;194	Q4LE61;Q92797	.;SYMPK_HUMAN	M	194	ENSP00000245934:L194M	ENSP00000245934:L194M	L	-	1	2	SYMPK	51042946	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.346000	0.44027	0.452000	0.26830	0.655000	0.94253	CTG		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	25	1	0	0.00116845	1	0.00124821	6	25				
MYO18B	84700	broad.mit.edu	37	22	26422936	26422936	+	Silent	SNP	C	C	T	rs373119005		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26422936C>T	ENST00000407587.2	+	43	7168	c.6999C>T	c.(6997-6999)gaC>gaT	p.D2333D	MYO18B_ENST00000335473.7_Silent_p.D2332D|MYO18B_ENST00000536101.1_Silent_p.D2332D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTTCAGACGGTGTTGGGG	0.552																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6994-6996)gaC>gaT		myosin XVIIIB		C		0,3830		0,0,1915	45.0	52.0	50.0		6996	-9.8	0.0	22		50	2,8238		0,2,4118	no	coding-synonymous	MYO18B	NM_032608.5		0,2,6033	TT,TC,CC		0.0243,0.0,0.0166		2332/2568	26422936	2,12068	1915	4120	6035	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422936C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6999C>T	22.37:g.26422936C>T						MYO18B_ENST00000536101.1_Silent_p.D2332D|MYO18B_ENST00000407587.2_Silent_p.D2333D	p.D2332D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7246	+			2332					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6996C>T		.	.	.	.	.	.	.	.	.	.	C	0.033	-1.324242	0.01309	0.0	2.43E-4	ENSG00000133454	ENST00000543971	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12016	-1.0564	4	.	.	.	.	4.1588	0.10273	0.1345:0.4496:0.1067:0.3092	.	.	.	.	M	282	.	.	T	+	2	0	MYO18B	24752936	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.205000	0.09411	-2.532000	0.00491	-1.327000	0.01280	ACG		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		18	43	0	0	0	1	0	18	43				
CAMSAP1	157922	broad.mit.edu	37	9	138707005	138707005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138707005C>T	ENST00000389532.4	-	16	4508	c.4444G>A	c.(4444-4446)Gcc>Acc	p.A1482T	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A1493T|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A1204T	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1482	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGGATATGGCATTGTGAATA	0.413																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4444-4446)Gcc>Acc		calmodulin regulated spectrin-associated protein 1							126.0	103.0	111.0					9																	138707005		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138707005C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4444G>A	9.37:g.138707005C>T	ENSP00000374183:p.Ala1482Thr					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A1493T|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A1204T	p.A1482T	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	16	4508	-			1482			CKK.		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4444G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347195	0.82022	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.71817	-0.58;-0.56;-0.6	5.49	5.49	0.81192	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89870	0.4022	10	0.87932	D	0	-3.3084	19.3632	0.94451	0.0:1.0:0.0:0.0	.	1482;1493	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	T	1482;1204;1493	ENSP00000374183:A1482T;ENSP00000312463:A1204T;ENSP00000386420:A1493T	ENSP00000312463:A1204T	A	-	1	0	CAMSAP1	137846826	1.000000	0.71417	0.138000	0.22173	0.246000	0.25737	7.704000	0.84595	2.579000	0.87056	0.655000	0.94253	GCC		0.413	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	16	0	0	0	1	0	7	16				
ITGB1	3688	broad.mit.edu	37	10	33199304	33199304	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33199304T>C	ENST00000396033.2	-	14	2146	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A	ITGB1_ENST00000423113.1_Missense_Mutation_p.T671A|ITGB1_ENST00000374956.4_Missense_Mutation_p.T671A|ITGB1_ENST00000302278.3_Missense_Mutation_p.T671A	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	671					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TCTACCTTGGTAATGTTAAAA	0.408																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2011-2013)Acc>Gcc		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							45.0	45.0	45.0					10																	33199304		2202	4281	6483	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33199304T>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2011A>G	10.37:g.33199304T>C	ENSP00000379350:p.Thr671Ala					ITGB1_ENST00000302278.3_Missense_Mutation_p.T671A|ITGB1_ENST00000374956.4_Missense_Mutation_p.T671A|ITGB1_ENST00000423113.1_Missense_Mutation_p.T671A	p.T671A	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			14	2146	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	671					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.2011A>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201483	0.38905	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.65	5.65	0.86999	Integrin beta subunit, tail (2);	0.098361	0.64402	D	0.000001	D	0.86952	0.6057	M	0.61703	1.905	0.35528	D	0.801984	B;B;B;B;B	0.34399	0.168;0.12;0.099;0.452;0.106	B;B;B;B;B	0.29785	0.052;0.086;0.052;0.107;0.047	D	0.87482	0.2421	10	0.24483	T	0.36	.	11.0315	0.47776	0.1387:0.0:0.0:0.8613	.	671;671;671;671;671	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	A	671	ENSP00000379350:T671A;ENSP00000388694:T671A;ENSP00000303351:T671A;ENSP00000364094:T671A	ENSP00000303351:T671A	T	-	1	0	ITGB1	33239310	1.000000	0.71417	0.990000	0.47175	0.723000	0.41478	3.336000	0.52113	2.163000	0.67991	0.459000	0.35465	ACC		0.408	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		26	29	0	0	0	1	0	26	29				
RALGAPA1	253959	broad.mit.edu	37	14	36217958	36217958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217958C>A	ENST00000389698.3	-	10	1474	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000554704.1_5'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	362					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTTCGGGTTCTGTAGTTCTG	0.373																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1084-1086)Gaa>Taa		Ral GTPase activating protein, alpha subunit 1 (catalytic)							171.0	151.0	158.0					14																	36217958		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36217958C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1084G>T	14.37:g.36217958C>A	ENSP00000374348:p.Glu362*					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E362*	p.E362*			Q6GYQ0	RGPA1_HUMAN			10	1474	-			362					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.1084G>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	40	8.335011	0.98764	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.801	19.877	0.96880	0.0:1.0:0.0:0.0	.	.	.	.	X	362	.	ENSP00000258840:E362X	E	-	1	0	RALGAPA1	35287709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.289000	0.78701	2.700000	0.92200	0.655000	0.94253	GAA		0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		39	67	1	0	3.43241e-23	1	4.54183e-23	39	67				
ADAMTS9	56999	broad.mit.edu	37	3	64601050	64601050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64601050G>A	ENST00000498707.1	-	21	3478	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1018*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1046	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGCACCTCTGAATGGTAACT	0.478																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(3136-3138)Cag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 9							198.0	170.0	180.0					3																	64601050		2203	4300	6503	SO:0001587	stop_gained	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601050G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3136C>T	3.37:g.64601050G>A	ENSP00000418735:p.Gln1046*					ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1018*	p.Q1046*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	21	3478	-		Lung NSC(201;0.00682)	1046			TSP type-1 4.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	ENST00000498707.1	37	c.3136C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851218	0.71719	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	.	.	.	5.88	5.88	0.94601	.	0.062483	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.221	0.98325	0.0:0.0:1.0:0.0	.	.	.	.	X	1018;1046	.	ENSP00000295903:Q1018X	Q	-	1	0	ADAMTS9	64576090	1.000000	0.71417	0.993000	0.49108	0.251000	0.25915	9.476000	0.97823	2.792000	0.96026	0.555000	0.69702	CAG		0.478	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			12	78	0	0	0	1	0	12	78				
TRGC2	6967	broad.mit.edu	37	7	38289005	38289005	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38289005G>A	ENST00000436911.2	-	0	168							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										CCCCTCCTGGGATCCCAGAAT	0.423																																						ENST00000436911.2																			0																				204.0	191.0	195.0					7																	38289005		1824	4069	5893			0							g.chr7:38289005G>A	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38289005G>A														0	168	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.423	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		21	314	0	0	0	1	0	21	314				
HARS	3035	broad.mit.edu	37	5	140056271	140056271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140056271G>A	ENST00000504156.1	-	10	1881	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	HARS_ENST00000504366.1_Missense_Mutation_p.R319W|HARS_ENST00000457527.2_Missense_Mutation_p.R368W|HARS_ENST00000415192.2_Missense_Mutation_p.R314W|HARS_ENST00000307633.3_Missense_Mutation_p.R328W|HARS_ENST00000448240.1_Missense_Mutation_p.R193W|HARS_ENST00000431330.2_Missense_Mutation_p.R274W|HARS_ENST00000438307.2_Missense_Mutation_p.R348W	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	388					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAGAAAATCCGCTCCACCCCA	0.562																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(955-957)Cgg>Tgg		histidyl-tRNA synthetase	L-Histidine(DB00117)						137.0	134.0	135.0					5																	140056271		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056271G>A	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1162C>T	5.37:g.140056271G>A	ENSP00000425634:p.Arg388Trp					HARS_ENST00000415192.2_Missense_Mutation_p.R314W|HARS_ENST00000448240.1_Missense_Mutation_p.R193W|HARS_ENST00000504156.1_Missense_Mutation_p.R388W|HARS_ENST00000457527.2_Missense_Mutation_p.R368W|HARS_ENST00000438307.2_Missense_Mutation_p.R348W|HARS_ENST00000431330.2_Missense_Mutation_p.R274W|HARS_ENST00000307633.3_Missense_Mutation_p.R328W	p.R319W			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	2774	-			388					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.955C>T	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003668	0.35320	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.64	4.72	0.59763	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.92919	0.7747	H	0.99312	4.51	0.80722	D	1	D;D;D;P;P;D;P;B	0.89917	1.0;0.963;0.993;0.696;0.552;0.986;0.696;0.234	D;P;D;B;B;P;B;B	0.91635	0.999;0.86;0.915;0.262;0.262;0.876;0.262;0.082	D	0.94946	0.8095	10	0.87932	D	0	-5.5876	14.3241	0.66507	0.0:0.0:0.7466:0.2534	.	278;274;314;328;348;388;368;388	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	W	388;368;274;319;328;193;348;314;278	ENSP00000425634:R388W;ENSP00000387893:R368W;ENSP00000393244:R274W;ENSP00000430063:R319W;ENSP00000304668:R328W;ENSP00000413605:R193W;ENSP00000411511:R348W;ENSP00000411085:R314W;ENSP00000425889:R278W	ENSP00000304668:R328W	R	-	1	2	HARS	140036455	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	4.510000	0.60455	2.816000	0.96949	0.563000	0.77884	CGG		0.562	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		75	65	0	0	0	1	0	75	65				
PCLO	27445	broad.mit.edu	37	7	82764401	82764401	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764401G>T	ENST00000333891.9	-	3	2802	c.2465C>A	c.(2464-2466)cCt>cAt	p.P822H	PCLO_ENST00000423517.2_Missense_Mutation_p.P822H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGTCGAGGTATGGCTTT	0.443																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2464-2466)cCt>cAt		piccolo presynaptic cytomatrix protein							171.0	161.0	164.0					7																	82764401		1867	4095	5962	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764401G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2465C>A	7.37:g.82764401G>T	ENSP00000334319:p.Pro822His					PCLO_ENST00000333891.8_Missense_Mutation_p.P822H	p.P822H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2802	-			768			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2465C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681681	0.29872	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17054	2.32;2.3	5.91	5.91	0.95273	.	.	.	.	.	T	0.31670	0.0804	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.63113	0.911;0.911	T	0.01537	-1.1330	9	0.87932	D	0	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	822;822	Q9Y6V0-5;Q9Y6V0-6	.;.	H	768;822;822	ENSP00000334319:P822H;ENSP00000388393:P822H	ENSP00000334319:P822H	P	-	2	0	PCLO	82602337	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.556000	0.60775	2.799000	0.96334	0.650000	0.86243	CCT		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		17	209	1	0	1.99824e-07	1	2.35189e-07	17	209				
ABCC9	10060	broad.mit.edu	37	12	22068693	22068693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22068693G>T	ENST00000261201.4	-	5	724	c.725C>A	c.(724-726)cCt>cAt	p.P242H	ABCC9_ENST00000261200.4_Missense_Mutation_p.P242H|ABCC9_ENST00000345162.2_Missense_Mutation_p.P242H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	242					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAGATCAATAGGCTTTTTGTG	0.368																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(724-726)cCt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						146.0	134.0	138.0					12																	22068693		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068693G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.725C>A	12.37:g.22068693G>T	ENSP00000261201:p.Pro242His					ABCC9_ENST00000261201.4_Missense_Mutation_p.P242H|ABCC9_ENST00000345162.2_Missense_Mutation_p.P242H	p.P242H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			5	724	-			242					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.725C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663113	0.67700	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.93076	-3.15;-3.16;-3.12	4.91	4.91	0.64330	.	0.100805	0.64402	D	0.000001	D	0.96661	0.8910	M	0.80982	2.52	0.53005	D	0.999963	D;D	0.89917	0.999;1.0	D;D	0.70935	0.95;0.971	D	0.97184	0.9853	10	0.87932	D	0	-17.7247	18.2902	0.90127	0.0:0.0:1.0:0.0	.	242;242	O60706;O60706-2	ABCC9_HUMAN;.	H	242	ENSP00000261200:P242H;ENSP00000261201:P242H;ENSP00000261202:P242H	ENSP00000261200:P242H	P	-	2	0	ABCC9	21959960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.671000	0.83941	2.548000	0.85928	0.650000	0.86243	CCT		0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		26	54	1	0	2.64397e-27	1	3.52669e-27	26	54				
RAD1	5810	broad.mit.edu	37	5	34911753	34911753	+	Missense_Mutation	SNP	G	G	T	rs376164878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911753G>T	ENST00000382038.2	-	4	1891	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	RAD1_ENST00000341754.4_Missense_Mutation_p.L158M	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	158					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCTGACTGCAGAATAATTTTA	0.423								Other conserved DNA damage response genes																														ENST00000382038.2																			0				endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10						c.(472-474)Ctg>Atg	Other conserved DNA damage response genes	RAD1 homolog (S. pombe)							82.0	88.0	86.0					5																	34911753		2203	4300	6503	SO:0001583	missense	5810				DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding	g.chr5:34911753G>T	AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"""exonuclease homolog RAD1"", ""checkpoint control protein HRAD1"", ""cell cycle checkpoint protein Hrad1"", ""Rad1-like DNA damage checkpoint"", ""DNA repair exonuclease REC1"""	603153	"""RAD1 (S. pombe) homolog"", ""RAD1 homolog (S. pombe)"""			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.472C>A	5.37:g.34911753G>T	ENSP00000371469:p.Leu158Met					RAD1_ENST00000341754.4_Missense_Mutation_p.L158M	p.L158M	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		4	1891	-	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	158					O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	ENST00000382038.2	37	c.472C>A	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496176	0.44352	.	.	ENSG00000113456	ENST00000382038;ENST00000341754;ENST00000542494	T;T	0.17528	2.27;2.27	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	N	0.04297	-0.235	0.58432	D	0.999999	B	0.29253	0.239	B	0.40375	0.327	T	0.36237	-0.9756	10	0.21014	T	0.42	.	19.668	0.95900	0.0:0.0:1.0:0.0	.	158	O60671	RAD1_HUMAN	M	158;158;122	ENSP00000371469:L158M;ENSP00000340879:L158M	ENSP00000340879:L158M	L	-	1	2	RAD1	34947510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.233000	0.65337	2.663000	0.90544	0.591000	0.81541	CTG		0.423	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		42	61	1	0	8.17448e-37	1	1.1008e-36	42	61				
CHURC1	91612	broad.mit.edu	37	14	65381186	65381186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65381186G>A	ENST00000549115.1	+	1	108	c.54G>A	c.(52-54)tgG>tgA	p.W18*	FNTB_ENST00000542227.1_5'Flank|CHURC1-FNTB_ENST00000549987.1_5'Flank|CHURC1_ENST00000548752.2_Nonsense_Mutation_p.W18*|CHURC1_ENST00000607599.1_Nonsense_Mutation_p.W18*|FNTB_ENST00000447296.2_5'Flank|CHURC1_ENST00000359118.2_5'UTR|CHURC1_ENST00000552002.2_5'UTR			Q8WUH1	CHUR_HUMAN	churchill domain containing 1	18					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GGAAGCGTTGGAGGACATTCC	0.622																																						ENST00000607599.1																			0				breast(1)|pancreas(1)	2						c.(52-54)tgG>tgA		churchill domain containing 1							161.0	147.0	152.0					14																	65381186		2203	4300	6503	SO:0001587	stop_gained	91612							g.chr14:65381186G>A	AF060510	CCDS32101.1, CCDS32101.2, CCDS55921.1, CCDS55922.1	14q23.3	2011-09-28	2004-05-05	2004-05-07	ENSG00000258289	ENSG00000258289			20099	protein-coding gene	gene with protein product		608577		C14orf52			Standard	NM_145165		Approved	My015, FLJ33064		Q8WUH1	OTTHUMG00000170218	ENST00000549115.1:c.54G>A	14.37:g.65381186G>A	ENSP00000448050:p.Trp18*					CHURC1_ENST00000548752.2_Nonsense_Mutation_p.W18*|CHURC1_ENST00000549115.1_Nonsense_Mutation_p.W18*|CHURC1_ENST00000552002.2_5'UTR|CHURC1_ENST00000359118.2_5'UTR	p.W18*	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)	1	108	+								B3KQ81|G3V1X3|G3V214|Q9H3K7	Nonsense_Mutation	SNP	ENST00000549115.1	37	c.54G>A	CCDS55921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.29|18.29	3.590391|3.590391	0.66219|0.66219	.|.	.|.	ENSG00000258289|ENSG00000258289	ENST00000551947|ENST00000552002;ENST00000549115;ENST00000548752	.|.	.|.	.|.	4.77|4.77	1.87|1.87	0.25490|0.25490	.|.	.|.	.|.	.|.	.|.	T|.	0.24736|.	0.0600|.	.|.	.|.	.|.	0.20638|0.20638	N|N	0.999876|0.999876	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21930|.	-1.0231|.	4|.	.|.	.|.	.|.	.|.	4.3235|4.3235	0.11029|0.11029	0.1899:0.0:0.6312:0.1789|0.1899:0.0:0.6312:0.1789	.|.	.|.	.|.	.|.	E|X	9|18	.|.	.|.	G|W	+|+	2|3	0|0	CHURC1|CHURC1	64450939|64450939	0.007000|0.007000	0.16637|0.16637	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.576000|0.576000	0.23744|0.23744	0.300000|0.300000	0.22699|0.22699	-0.150000|-0.150000	0.13652|0.13652	GGA|TGG		0.622	CHURC1-002	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408062.1	NM_145165		31	65	0	0	0	1	0	31	65				
DNAL1	83544	broad.mit.edu	37	14	74153965	74153965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74153965G>A	ENST00000553645.2	+	6	309	c.268G>A	c.(268-270)Gca>Aca	p.A90T	DNAL1_ENST00000540526.1_Missense_Mutation_p.A51T|DNAL1_ENST00000554339.1_Missense_Mutation_p.A3T|DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000554871.1_Missense_Mutation_p.A51T	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	90										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTTTCAGGAGGCAGTAGGGGA	0.323																																						ENST00000553645.1																			0				kidney(1)|lung(2)	3						c.(268-270)Gca>Aca		dynein, axonemal, light chain 1							84.0	83.0	83.0					14																	74153965		1830	4082	5912	SO:0001583	missense	83544							g.chr14:74153965G>A	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.268G>A	14.37:g.74153965G>A	ENSP00000452037:p.Ala90Thr					DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000540526.1_Missense_Mutation_p.A51T|DNAL1_ENST00000554871.1_Missense_Mutation_p.A51T|DNAL1_ENST00000554339.1_Missense_Mutation_p.A3T	p.A90T	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)	6	309	+			90					B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP	ENST00000553645.2	37	c.268G>A	CCDS45134.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838233	0.51057	.	.	ENSG00000119661	ENST00000553645;ENST00000554339;ENST00000554871;ENST00000540526	T;T;T;T	0.78126	0.09;-1.15;0.09;0.09	5.72	5.72	0.89469	.	0.199128	0.52532	D	0.000071	T	0.74122	0.3675	L	0.46741	1.465	0.58432	D	0.999996	B	0.19583	0.037	B	0.28232	0.087	T	0.67518	-0.5650	10	0.10636	T	0.68	-10.7685	20.2406	0.98372	0.0:0.0:1.0:0.0	.	90	Q4LDG9	DNAL1_HUMAN	T	90;3;51;51	ENSP00000452037:A90T;ENSP00000450744:A3T;ENSP00000451834:A51T;ENSP00000439695:A51T	ENSP00000310360:A90T	A	+	1	0	DNAL1	73223718	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.569000	0.73992	2.857000	0.98124	0.650000	0.86243	GCA		0.323	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414565.2	NM_031427		20	37	0	0	0	1	0	20	37				
PPARGC1A	10891	broad.mit.edu	37	4	23815351	23815351	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23815351C>T	ENST00000264867.2	-	8	1874	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	585	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGATCTTGACCTGGAATATG	0.428																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1753-1755)agG>agA		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							66.0	67.0	67.0					4																	23815351		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815351C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1755G>A	4.37:g.23815351C>T						PPARGC1A_ENST00000509702.1_5'UTR	p.R585R	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1874	-		Breast(46;0.0503)	585			Arg/Ser-rich.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1755G>A	CCDS3429.1																																																																																				0.428	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		13	24	0	0	0	1	0	13	24				
ADAMTSL1	92949	broad.mit.edu	37	9	18721614	18721614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18721614C>T	ENST00000380548.4	+	15	2296	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R653W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	653	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGCCGCCGGCCCCCACA	0.602																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1957-1959)Cgg>Tgg		ADAMTS-like 1							77.0	72.0	74.0					9																	18721614		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18721614C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1957C>T	9.37:g.18721614C>T	ENSP00000369921:p.Arg653Trp					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R653W	p.R653W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	15	2296	+			653			TSP type-1 5.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1957C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411232	0.83340	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.67523	-0.23;-0.27	5.86	4.96	0.65561	.	0.071793	0.08080	U	1.000000	D	0.84174	0.5414	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.78570	-0.2153	10	0.87932	D	0	.	16.0345	0.80612	0.1357:0.8643:0.0:0.0	.	653	Q8N6G6	ATL1_HUMAN	W	653	ENSP00000369921:R653W;ENSP00000276935:R653W	ENSP00000276935:R653W	R	+	1	2	ADAMTSL1	18711614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.669000	0.61575	1.471000	0.48121	0.650000	0.86243	CGG		0.602	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			20	30	0	0	0	1	0	20	30				
EEF2K	29904	broad.mit.edu	37	16	22262474	22262474	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22262474A>C	ENST00000263026.5	+	6	923	c.449A>C	c.(448-450)aAg>aCg	p.K150T		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	150	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCACAGGAAGAAGCTCTCC	0.597																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(448-450)aAg>aCg		eukaryotic elongation factor-2 kinase							123.0	118.0	120.0					16																	22262474		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22262474A>C	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.449A>C	16.37:g.22262474A>C	ENSP00000263026:p.Lys150Thr						p.K150T	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	6	923	+			150			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.449A>C	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745770	0.89663	.	.	ENSG00000103319	ENST00000263026	T	0.14893	2.47	5.46	5.46	0.80206	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.088390	0.85682	D	0.000000	T	0.42449	0.1203	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35992	-0.9766	10	0.72032	D	0.01	-13.5498	15.5258	0.75905	1.0:0.0:0.0:0.0	.	150	O00418	EF2K_HUMAN	T	150	ENSP00000263026:K150T	ENSP00000263026:K150T	K	+	2	0	EEF2K	22169975	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.886000	0.92447	2.075000	0.62263	0.379000	0.24179	AAG		0.597	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		7	141	0	0	0	1	0	7	141				
ARHGAP35	2909	broad.mit.edu	37	19	47424716	47424716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47424716G>T	ENST00000404338.3	+	1	2784	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	928					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCCAACCCCAGCATAAACTTG	0.443																																						ENST00000404338.3																			0											c.(2782-2784)caG>caT		Rho GTPase activating protein 35							115.0	114.0	114.0					19																	47424716		1891	4124	6015	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424716G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2784G>T	19.37:g.47424716G>T	ENSP00000385720:p.Gln928His						p.Q928H	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2784	+			928					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2784G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	0.062	-1.221503	0.01530	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.07800	3.16	5.79	4.76	0.60689	.	0.107611	0.64402	D	0.000004	T	0.07413	0.0187	L	0.42245	1.32	0.41898	D	0.990402	B	0.13594	0.008	B	0.15052	0.012	T	0.14699	-1.0463	10	0.09338	T	0.73	-32.818	10.6333	0.45549	0.1545:0.0:0.8455:0.0	.	928	Q9NRY4-2	.	H	928	ENSP00000385720:Q928H	ENSP00000324820:Q928H	Q	+	3	2	ARHGAP35	52116556	0.970000	0.33590	1.000000	0.80357	0.998000	0.95712	0.289000	0.18957	1.463000	0.47967	0.655000	0.94253	CAG		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		8	85	1	0	1.12685e-05	1	1.27857e-05	8	85				
SLC44A3	126969	broad.mit.edu	37	1	95357892	95357892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95357892G>A	ENST00000271227.6	+	14	1778	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	SLC44A3_ENST00000532427.1_Missense_Mutation_p.R479Q|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R523Q|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R491Q|SLC44A3_ENST00000529450.1_Missense_Mutation_p.R526Q|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R511Q	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	559					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AACTACAATCGGGCATTCCAG	0.408																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1675-1677)cGg>cAg		solute carrier family 44, member 3	Choline(DB00122)						282.0	276.0	278.0					1																	95357892		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95357892G>A	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1676G>A	1.37:g.95357892G>A	ENSP00000271227:p.Arg559Gln					SLC44A3_ENST00000529450.1_Missense_Mutation_p.R526Q|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R511Q|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R491Q|SLC44A3_ENST00000532427.1_Missense_Mutation_p.R479Q|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R523Q	p.R559Q	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	14	1778	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	559					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1676G>A	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112132	0.56398	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.13	4.21	0.49690	.	0.328980	0.26757	N	0.022656	T	0.22003	0.0530	L	0.50333	1.59	0.38326	D	0.94366	D;B;D;D;D	0.65815	0.99;0.082;0.99;0.995;0.995	P;B;P;P;P	0.59825	0.721;0.016;0.721;0.794;0.864	T	0.02603	-1.1135	10	0.19147	T	0.46	-5.5881	16.0626	0.80847	0.0:0.1343:0.8657:0.0	.	479;523;491;526;559	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	Q	523;559;491;526;511;479	ENSP00000389143:R523Q;ENSP00000271227:R559Q;ENSP00000433641:R491Q;ENSP00000431836:R526Q;ENSP00000432789:R511Q;ENSP00000436661:R479Q	ENSP00000271227:R559Q	R	+	2	0	SLC44A3	95130480	1.000000	0.71417	0.818000	0.32626	0.943000	0.58893	5.533000	0.67160	1.277000	0.44412	0.491000	0.48974	CGG		0.408	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		126	88	0	0	0	1	0	126	88				
SMARCA4	6597	broad.mit.edu	37	19	11134247	11134247	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11134247G>A	ENST00000429416.3	+	21	3194	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V	SMARCA4_ENST00000413806.3_Silent_p.V971V|SMARCA4_ENST00000590574.1_Silent_p.V971V|SMARCA4_ENST00000450717.3_Silent_p.V971V|SMARCA4_ENST00000541122.2_Silent_p.V971V|SMARCA4_ENST00000444061.3_Silent_p.V971V|SMARCA4_ENST00000358026.2_Silent_p.V971V|SMARCA4_ENST00000589677.1_Silent_p.V971V|SMARCA4_ENST00000344626.4_Silent_p.V971V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	971					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCACAAAGTGCTGCGGCCCT	0.567			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2911-2913)gtG>gtA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							65.0	58.0	60.0					19																	11134247		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11134247G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2913G>A	19.37:g.11134247G>A						SMARCA4_ENST00000590574.1_Silent_p.V971V|SMARCA4_ENST00000413806.3_Silent_p.V971V|SMARCA4_ENST00000344626.4_Silent_p.V971V|SMARCA4_ENST00000541122.2_Silent_p.V971V|SMARCA4_ENST00000589677.1_Silent_p.V971V|SMARCA4_ENST00000429416.3_Silent_p.V971V|SMARCA4_ENST00000444061.3_Silent_p.V971V|SMARCA4_ENST00000450717.3_Silent_p.V971V	p.V971V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			20	3197	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	971					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.2913G>A	CCDS12253.1																																																																																				0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		9	9	0	0	0	1	0	9	9				
MAN2B1	4125	broad.mit.edu	37	19	12776319	12776319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12776319C>T	ENST00000456935.2	-	3	323	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A95T|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.A92T|WDR83_ENST00000418543.3_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	95			A -> P (in MANSA; results in less than 20% of wild-type enzyme activity). {ECO:0000269|PubMed:22161967}.		cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCACACCGGCGTGCTGGATG	0.552																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(283-285)Gcc>Acc		mannosidase, alpha, class 2B, member 1							110.0	112.0	111.0					19																	12776319		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12776319C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.283G>A	19.37:g.12776319C>T	ENSP00000395473:p.Ala95Thr					CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.A92T|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A95T	p.A95T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			3	323	-			95					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.283G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674753	0.88445	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.74842	-0.88;-0.88	5.76	3.61	0.41365	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.275088	0.26311	N	0.025118	D	0.84960	0.5588	M	0.82193	2.58	0.54753	D	0.999986	D;D	0.89917	0.994;1.0	P;D	0.77557	0.654;0.99	D	0.85029	0.0916	10	0.87932	D	0	-3.8838	9.6017	0.39607	0.0:0.779:0.1427:0.0782	.	95;95	G5E928;O00754	.;MA2B1_HUMAN	T	95;34;95	ENSP00000395473:A95T;ENSP00000221363:A95T	ENSP00000221363:A95T	A	-	1	0	MAN2B1	12637319	1.000000	0.71417	0.002000	0.10522	0.007000	0.05969	7.285000	0.78660	0.762000	0.33152	0.655000	0.94253	GCC		0.552	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			29	64	0	0	0	1	0	29	64				
PPP2R2C	5522	broad.mit.edu	37	4	6473947	6473947	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473947C>T	ENST00000382599.4	-	1	226	c.10G>A	c.(10-12)Gac>Aac	p.D4N	PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	4					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTGTCCGTGTCCTCGCCCATT	0.672																																						ENST00000382599.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(10-12)Gac>Aac		protein phosphatase 2, regulatory subunit B, gamma							161.0	144.0	150.0					4																	6473947		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6473947C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.10G>A	4.37:g.6473947C>T	ENSP00000372042:p.Asp4Asn					PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000314348.8_Intron	p.D4N			Q9Y2T4	2ABG_HUMAN			1	226	-			4					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.10G>A		.	.	.	.	.	.	.	.	.	.	c	8.499	0.863802	0.17250	.	.	ENSG00000074211	ENST00000382599	T	0.31510	1.49	2.21	1.28	0.21552	.	15.933700	0.00714	U	0.000849	T	0.24275	0.0588	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04005	-1.0985	9	0.27082	T	0.32	.	8.0302	0.30461	0.0:0.8617:0.0:0.1383	.	4	Q9Y2T4	2ABG_HUMAN	N	4	ENSP00000372042:D4N	ENSP00000372042:D4N	D	-	1	0	PPP2R2C	6524848	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	3.665000	0.54532	-0.120000	0.11809	0.152000	0.16155	GAC		0.672	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		20	48	0	0	0	1	0	20	48				
ACTN1	87	broad.mit.edu	37	14	69387793	69387793	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69387793G>T	ENST00000193403.6	-	3	653	c.270C>A	c.(268-270)atC>atA	p.I90I	ACTN1_ENST00000538545.2_Silent_p.I90I|ACTN1_ENST00000438964.2_Silent_p.I90I|ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000376839.3_Silent_p.I25I|ACTN1_ENST00000394419.4_Silent_p.I90I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	90	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGACGTTGGAGATCTTGTGCA	0.562																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(268-270)atC>atA		actinin, alpha 1							229.0	174.0	193.0					14																	69387793		2203	4300	6503	SO:0001819	synonymous_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69387793G>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.270C>A	14.37:g.69387793G>T						ACTN1_ENST00000438964.2_Silent_p.I90I|ACTN1_ENST00000538545.2_Silent_p.I90I|ACTN1_ENST00000394419.4_Silent_p.I90I|ACTN1_ENST00000376839.3_Silent_p.I25I	p.I90I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	653	-			90			Actin-binding.|CH 1.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.270C>A	CCDS9792.1																																																																																				0.562	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		4	56	1	0	1	1	1	4	56				
FDXR	2232	broad.mit.edu	37	17	72861912	72861912	+	Missense_Mutation	SNP	C	C	T	rs200007978		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72861912C>T	ENST00000293195.5	-	6	616	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	FDXR_ENST00000455107.2_Missense_Mutation_p.V136M|FDXR_ENST00000413947.2_Missense_Mutation_p.V211M|FDXR_ENST00000544854.1_Missense_Mutation_p.V128M|FDXR_ENST00000581530.1_Missense_Mutation_p.V180M|FDXR_ENST00000420580.2_Missense_Mutation_p.V140M|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000582944.1_Missense_Mutation_p.V172M|FDXR_ENST00000583917.1_Missense_Mutation_p.V181M|FDXR_ENST00000442102.2_Missense_Mutation_p.V223M	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	180					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCCAGAATCACGGCTGTGTCA	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19525	0.0		0.0	False		,,,				2504	0.0					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(406-408)Gtg>Atg		ferredoxin reductase		C	MET/VAL,MET/VAL	0,4406		0,0,2203	83.0	60.0	68.0		538,538	4.1	1.0	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FDXR	NM_004110.3,NM_024417.2	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	180/498,180/492	72861912	1,13005	2203	4300	6503	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72861912C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.538G>A	17.37:g.72861912C>T	ENSP00000293195:p.Val180Met					FDXR_ENST00000544854.1_Missense_Mutation_p.V128M|FDXR_ENST00000442102.2_Missense_Mutation_p.V223M|FDXR_ENST00000420580.2_Missense_Mutation_p.V140M|FDXR_ENST00000293195.5_Missense_Mutation_p.V180M|FDXR_ENST00000583917.1_Missense_Mutation_p.V181M|FDXR_ENST00000582944.1_Missense_Mutation_p.V172M|FDXR_ENST00000413947.2_Missense_Mutation_p.V211M|FDXR_ENST00000581530.1_Missense_Mutation_p.V180M	p.V136M			P22570	ADRO_HUMAN			7	822	-	all_lung(278;0.172)|Lung NSC(278;0.207)		180					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.406G>A	CCDS58593.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.75	2.030888	0.35797	0.0	1.16E-4	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	5.16	4.09	0.47781	.	0.202140	0.40908	D	0.000997	T	0.54415	0.1857	H	0.94886	3.595	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;0.999;0.999;0.999;0.999;0.999;1.0	P;D;D;P;D;P;P;P;P;D	0.66716	0.898;0.943;0.925;0.903;0.946;0.803;0.836;0.903;0.836;0.946	T	0.67321	-0.5700	10	0.72032	D	0.01	-1.488	12.9042	0.58143	0.1307:0.7536:0.1156:0.0	.	140;223;211;178;128;211;180;172;180;180	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	M	140;128;180;136;223;211	ENSP00000414172:V140M;ENSP00000445432:V128M;ENSP00000293195:V180M;ENSP00000390875:V136M;ENSP00000416515:V223M;ENSP00000408595:V211M	ENSP00000293195:V180M	V	-	1	0	FDXR	70373507	0.998000	0.40836	0.997000	0.53966	0.971000	0.66376	3.809000	0.55606	2.399000	0.81585	0.462000	0.41574	GTG		0.642	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		9	24	0	0	0	1	0	9	24				
TMEM120A	83862	broad.mit.edu	37	7	75621548	75621548	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75621548C>A	ENST00000338761.4	-	0	319				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral component of membrane (GO:0016021)											GTGCGGCCCCCTCGGCCTCTG	0.602																																						ENST00000493111.2																			0													transmembrane protein 120A							63.0	70.0	68.0					7																	75621548		1918	4117	6035			83862					integral to membrane		g.chr7:75621548C>A	AF327923	CCDS64688.1	7q11.23	2009-11-06			ENSG00000189077	ENSG00000189077			21697	protein-coding gene	gene with protein product							Standard	NM_031925		Approved	TMPIT, NET29	uc003ued.3	Q9BXJ8	OTTHUMG00000156620		7.37:g.75621548C>A						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	230	-								Q86TE9|Q8N6P1	RNA	SNP	ENST00000338761.4	37																																																																																						0.602	TMEM120A-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000344834.4	NM_031925		9	124	1	0	7.03913e-09	1	8.47891e-09	9	124				
ADAMTSL3	57188	broad.mit.edu	37	15	84581936	84581936	+	Missense_Mutation	SNP	C	C	T	rs139144597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84581936C>T	ENST00000286744.5	+	16	2017	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T598M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	598	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACATTCACGCAGACTGAG	0.622																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1792-1794)aCg>aTg		ADAMTS-like 3		C	MET/THR	0,4406		0,0,2203	90.0	77.0	81.0		1793	2.9	0.9	15	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTSL3	NM_207517.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	598/1692	84581936	1,13005	2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84581936C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1793C>T	15.37:g.84581936C>T	ENSP00000286744:p.Thr598Met					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T598M	p.T598M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2017	+			598			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1793C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838618	0.71373	0.0	1.16E-4	ENSG00000156218	ENST00000286744	T	0.53640	0.61	4.9	2.89	0.33648	.	0.803135	0.10852	N	0.627029	T	0.68485	0.3006	M	0.86028	2.79	0.43647	D	0.996051	D;D	0.89917	0.999;1.0	D;D	0.67231	0.944;0.95	T	0.66701	-0.5857	10	0.54805	T	0.06	.	9.713	0.40256	0.0:0.7815:0.1411:0.0774	.	598;598	P82987-2;P82987	.;ATL3_HUMAN	M	598	ENSP00000286744:T598M	ENSP00000286744:T598M	T	+	2	0	ADAMTSL3	82372940	0.998000	0.40836	0.893000	0.35052	0.911000	0.54048	4.372000	0.59530	1.047000	0.40274	0.563000	0.77884	ACG		0.622	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		7	53	0	0	0	1	0	7	53				
SUSD2	56241	broad.mit.edu	37	22	24581676	24581676	+	Missense_Mutation	SNP	C	C	T	rs370542103		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24581676C>T	ENST00000358321.3	+	8	1379	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	373	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCGGACGGGACGCAGCTCCTG	0.701																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1117-1119)aCg>aTg		sushi domain containing 2							21.0	22.0	21.0					22																	24581676		2203	4296	6499	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581676C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1118C>T	22.37:g.24581676C>T	ENSP00000351075:p.Thr373Met						p.T373M	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			8	1379	+			373			AMOP.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1118C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356880	0.24598	.	.	ENSG00000099994	ENST00000358321	T	0.20598	2.06	4.37	3.33	0.38152	AMOP (3);	0.305381	0.35495	N	0.003171	T	0.25754	0.0627	M	0.68317	2.08	0.09310	N	1	D	0.53462	0.96	P	0.44647	0.456	T	0.11542	-1.0583	10	0.34782	T	0.22	-7.9579	12.3895	0.55350	0.0:0.8287:0.1713:0.0	.	373	Q9UGT4	SUSD2_HUMAN	M	373	ENSP00000351075:T373M	ENSP00000351075:T373M	T	+	2	0	SUSD2	22911676	0.001000	0.12720	0.020000	0.16555	0.016000	0.09150	1.223000	0.32527	0.951000	0.37770	0.456000	0.33151	ACG		0.701	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		4	5	0	0	0	1	0	4	5				
ARGLU1	55082	broad.mit.edu	37	13	107211822	107211822	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:107211822C>T	ENST00000400198.3	-	2	775	c.531G>A	c.(529-531)gaG>gaA	p.E177E	ARGLU1_ENST00000375926.1_Missense_Mutation_p.S27N|ARGLU1_ENST00000472226.1_5'Flank	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	177	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTCTCTGTCGCTCGAGTTCTT	0.483																																						ENST00000375926.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(79-81)aGc>aAc		arginine and glutamate rich 1							119.0	119.0	119.0					13																	107211822		1917	4146	6063	SO:0001819	synonymous_variant	55082							g.chr13:107211822C>T	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.531G>A	13.37:g.107211822C>T						ARGLU1_ENST00000400198.3_Silent_p.E177E	p.S27N			Q9NWB6	ARGL1_HUMAN			2	303	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		70			Arg-rich.		B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	ENST00000400198.3	37	c.80G>A	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327691	0.81690	.	.	ENSG00000134884	ENST00000375926;ENST00000360629	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.68504	0.3008	.	.	.	0.31010	N	0.719296	.	.	.	.	.	.	T	0.71167	-0.4672	5	0.87932	D	0	-10.112	19.451	0.94867	0.0:1.0:0.0:0.0	.	.	.	.	N	27	.	ENSP00000353844:S27N	S	-	2	0	ARGLU1	106009823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.593000	0.87608	0.655000	0.94253	AGC		0.483	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		34	43	0	0	0	1	0	34	43				
LARP4B	23185	broad.mit.edu	37	10	910103	910103	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:910103C>A	ENST00000316157.3	-	3	289	c.249G>T	c.(247-249)tgG>tgT	p.W83C		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCACCTCCTCCCATGCAGCAC	0.592																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(247-249)tgG>tgT		La ribonucleoprotein domain family, member 4B							81.0	69.0	73.0					10																	910103		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:910103C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.249G>T	10.37:g.910103C>A	ENSP00000326128:p.Trp83Cys						p.W83C	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			3	289	-			83					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.249G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162676	0.57368	.	.	ENSG00000107929	ENST00000316157;ENST00000406525	T	0.53857	0.6	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67699	-0.5603	10	0.87932	D	0	-27.2751	19.5959	0.95538	0.0:1.0:0.0:0.0	.	83	Q92615	LAR4B_HUMAN	C	83	ENSP00000326128:W83C	ENSP00000326128:W83C	W	-	3	0	LARP4B	900103	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	5.002000	0.63952	2.617000	0.88574	0.655000	0.94253	TGG		0.592	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		9	31	1	0	0.000274275	1	0.000298791	9	31				
RAB11FIP5	26056	broad.mit.edu	37	2	73316022	73316022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316022G>A	ENST00000258098.6	-	2	1093	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	285					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCAGTGGACAGCCAGCTGCTA	0.687																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(853-855)Ctg>Ttg		RAB11 family interacting protein 5 (class I)							17.0	17.0	17.0					2																	73316022		2199	4292	6491	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316022G>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.853C>T	2.37:g.73316022G>A						RAB11FIP5_ENST00000493523.2_5'UTR	p.L285L	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	1093	-			285					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.853C>T	CCDS1923.1																																																																																				0.687	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		6	14	0	0	0	1	0	6	14				
PCDHA7	56141	broad.mit.edu	37	5	140214409	140214409	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140214409G>A	ENST00000525929.1	+	1	441	c.441G>A	c.(439-441)ccG>ccA	p.P147P	PCDHA7_ENST00000378125.3_Silent_p.P147P|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCAGGCCGCTTGACTCTC	0.547																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(439-441)ccG>ccA									58.0	56.0	56.0					5																	140214409		2203	4292	6495	SO:0001819	synonymous_variant	0							g.chr5:140214409G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.441G>A	5.37:g.140214409G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.P147P|PCDHA4_ENST00000512229.2_Intron	p.P147P	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	441	+								O75282	Silent	SNP	ENST00000525929.1	37	c.441G>A	CCDS54918.1																																																																																				0.547	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		24	25	0	0	0	1	0	24	25				
VEGFB	7423	broad.mit.edu	37	11	64003358	64003358	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64003358G>A	ENST00000309422.2	+	3	473	c.177G>A	c.(175-177)gaG>gaA	p.E59E	RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000426086.2_Silent_p.E59E|RP11-783K16.14_ENST00000539963.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	59					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TGACTGTGGAGCTCATGGGCA	0.627																																						ENST00000309422.2																			0				endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						c.(175-177)gaG>gaA		vascular endothelial growth factor B							84.0	82.0	82.0					11																	64003358		2201	4297	6498	SO:0001819	synonymous_variant	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64003358G>A	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.177G>A	11.37:g.64003358G>A						VEGFB_ENST00000426086.2_Silent_p.E59E	p.E59E	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN			3	473	+			59					Q16528	Silent	SNP	ENST00000309422.2	37	c.177G>A	CCDS8062.1																																																																																				0.627	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		8	18	0	0	0	1	0	8	18				
RIPK4	54101	broad.mit.edu	37	21	43161219	43161219	+	Missense_Mutation	SNP	C	C	T	rs199540981		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161219C>T	ENST00000352483.2	-	9	2342	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	RIPK4_ENST00000544709.1_Missense_Mutation_p.A649T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A649T|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.A712T			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	760					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCGTGGGCGGCAGCCAGG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		16448	0.001		0.0	False		,,,				2504	0.0					ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2278-2280)Gcc>Acc		receptor-interacting serine-threonine kinase 4							54.0	61.0	58.0					21																	43161219		2203	4298	6501	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161219C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2278G>A	21.37:g.43161219C>T	ENSP00000330161:p.Ala760Thr					RIPK4_ENST00000542057.1_Missense_Mutation_p.A649T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A712T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A649T|AP001615.9_ENST00000423276.1_RNA	p.A760T			Q96T11	Q96T11_HUMAN			9	2342	-			712					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2278G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.75	1.439558	0.25900	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.61	4.61	0.57282	.	0.137225	0.33650	N	0.004689	T	0.58652	0.2137	L	0.49350	1.555	0.09310	N	1	D	0.56287	0.975	P	0.46975	0.533	T	0.53165	-0.8477	10	0.22706	T	0.39	-28.7062	12.4094	0.55459	0.0:0.8305:0.1695:0.0	.	712	P57078-2	.	T	712;760;649;649	ENSP00000332454:A712T;ENSP00000330161:A760T;ENSP00000441754:A649T;ENSP00000442901:A649T	ENSP00000332454:A712T	A	-	1	0	RIPK4	42034288	0.576000	0.26700	0.140000	0.22221	0.193000	0.23685	2.352000	0.44080	2.116000	0.64780	0.650000	0.86243	GCC		0.687	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		41	77	0	0	0	1	0	41	77				
GPR4	2828	broad.mit.edu	37	19	46094078	46094078	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46094078C>A	ENST00000323040.4	-	2	1991	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	349					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTGGTCCCCCTGGGAGGGCG	0.627																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1045-1047)caG>caT		G protein-coupled receptor 4							58.0	59.0	59.0					19																	46094078		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094078C>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.1047G>T	19.37:g.46094078C>A	ENSP00000319744:p.Gln349His					OPA3_ENST00000544371.1_Intron	p.Q349H	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1991	-			349					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.1047G>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352783	0.24512	.	.	ENSG00000177464	ENST00000323040	T	0.61627	0.09	4.53	-0.34	0.12643	.	0.430657	0.17281	N	0.180018	T	0.31734	0.0806	N	0.14661	0.345	0.27033	N	0.964199	B	0.02656	0.0	B	0.01281	0.0	T	0.10245	-1.0638	10	0.41790	T	0.15	.	3.5368	0.07796	0.0:0.462:0.1946:0.3435	.	349	P46093	GPR4_HUMAN	H	349	ENSP00000319744:Q349H	ENSP00000319744:Q349H	Q	-	3	2	GPR4	50785918	0.000000	0.05858	0.983000	0.44433	0.770000	0.43624	0.305000	0.19254	0.166000	0.19597	-0.519000	0.04390	CAG		0.627	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		7	58	1	0	8.12818e-05	1	8.99451e-05	7	58				
PRKDC	5591	broad.mit.edu	37	8	48766717	48766717	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48766717T>C	ENST00000314191.2	-	52	6873	c.6817A>G	c.(6817-6819)Att>Gtt	p.I2273V	PRKDC_ENST00000338368.3_Missense_Mutation_p.I2273V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2274					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCAATTGAATCCCTACTGAG	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6817-6819)Att>Gtt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							117.0	110.0	112.0					8																	48766717		1906	4133	6039	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48766717T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6817A>G	8.37:g.48766717T>C	ENSP00000313420:p.Ile2273Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.I2273V|PRKDC_ENST00000523565.1_5'UTR	p.I2273V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			52	6873	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2274					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6817A>G		.	.	.	.	.	.	.	.	.	.	T	16.60	3.169186	0.57584	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66460	-0.21;-0.21	5.05	5.05	0.67936	Armadillo-type fold (1);	0.072221	0.56097	D	0.000027	T	0.71417	0.3337	M	0.78637	2.42	0.45852	D	0.998711	P;P	0.45902	0.868;0.786	P;B	0.45167	0.472;0.323	T	0.76801	-0.2825	10	0.66056	D	0.02	.	13.9607	0.64177	0.0:0.0:0.0:1.0	.	2273;2274	E7EUY0;P78527	.;PRKDC_HUMAN	V	2273	ENSP00000313420:I2273V;ENSP00000345182:I2273V	ENSP00000313420:I2273V	I	-	1	0	PRKDC	48929270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.527000	0.60573	1.897000	0.54924	0.528000	0.53228	ATT		0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		11	19	0	0	0	1	0	11	19				
KRIT1	889	broad.mit.edu	37	7	91830633	91830633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91830633T>C	ENST00000340022.2	-	18	3148	c.2130A>G	c.(2128-2130)gtA>gtG	p.V710V	KRIT1_ENST00000394505.2_Silent_p.V710V|KRIT1_ENST00000394503.2_Silent_p.V662V|MIR1285-1_ENST00000408593.1_RNA|KRIT1_ENST00000412043.2_Silent_p.V710V|Y_RNA_ENST00000363899.1_RNA|KRIT1_ENST00000394507.1_Silent_p.V710V|AC000120.7_ENST00000414227.1_RNA	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTTGTATGTACTATAAAGC	0.289																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(2128-2130)gtA>gtG		KRIT1, ankyrin repeat containing							65.0	67.0	67.0					7																	91830633		2203	4294	6497	SO:0001819	synonymous_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91830633T>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.2130A>G	7.37:g.91830633T>C						KRIT1_ENST00000340022.2_Silent_p.V710V|KRIT1_ENST00000412043.2_Silent_p.V710V|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394503.2_Silent_p.V662V|KRIT1_ENST00000394505.2_Silent_p.V710V	p.V710V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2913	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		710			FERM.|Required for RAP1A binding.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.2130A>G	CCDS5624.1																																																																																				0.289	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			6	80	0	0	0	1	0	6	80				
PLIN2	123	broad.mit.edu	37	9	19123610	19123610	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19123610C>A	ENST00000276914.2	-	4	441	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	PLIN2_ENST00000380465.3_Missense_Mutation_p.D88Y|PLIN2_ENST00000411567.1_Missense_Mutation_p.D88Y|PLIN2_ENST00000380464.3_Missense_Mutation_p.D88Y	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	88					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAATCCTGTCTAGCCCCTTA	0.413																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(262-264)Gac>Tac		perilipin 2							118.0	94.0	102.0					9																	19123610		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19123610C>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.262G>T	9.37:g.19123610C>A	ENSP00000276914:p.Asp88Tyr					PLIN2_ENST00000380464.3_Missense_Mutation_p.D88Y|PLIN2_ENST00000411567.1_Missense_Mutation_p.D88Y|PLIN2_ENST00000380465.3_Missense_Mutation_p.D88Y	p.D88Y	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			4	441	-			88					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.262G>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777677	0.90195	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144;ENST00000380465;ENST00000380464	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.94	5.94	0.96194	.	0.132739	0.64402	D	0.000002	T	0.57666	0.2069	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.977;0.988	T	0.64309	-0.6438	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	88;88	E9PG83;Q99541	.;PLIN2_HUMAN	Y	88	ENSP00000415270:D88Y;ENSP00000276914:D88Y;ENSP00000403421:D88Y;ENSP00000369832:D88Y;ENSP00000369831:D88Y	ENSP00000276914:D88Y	D	-	1	0	PLIN2	19113610	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	7.188000	0.77739	2.807000	0.96579	0.591000	0.81541	GAC		0.413	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		17	29	1	0	3.62473e-10	1	4.44982e-10	17	29				
OPHN1	4983	broad.mit.edu	37	X	67417060	67417060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67417060G>T	ENST00000355520.5	-	12	1713	c.1072C>A	c.(1072-1074)Cta>Ata	p.L358I	OPHN1_ENST00000540071.1_Missense_Mutation_p.L358I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	358	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCCATCCATAGCCTTCTGTTA	0.478																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1072-1074)Cta>Ata		oligophrenin 1							135.0	106.0	116.0					X																	67417060		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67417060G>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1072C>A	X.37:g.67417060G>T	ENSP00000347710:p.Leu358Ile					OPHN1_ENST00000540071.1_Missense_Mutation_p.L358I	p.L358I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			12	1713	-			358			PH.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.1072C>A	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016886	0.75161	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.43688	0.94;0.94	4.79	4.79	0.61399	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.079189	0.52532	D	0.000077	T	0.60586	0.2280	M	0.65975	2.015	0.40560	D	0.981205	D;D	0.63880	0.974;0.993	D;P	0.67725	0.953;0.732	T	0.64037	-0.6501	10	0.54805	T	0.06	.	14.3422	0.66636	0.0:0.0:1.0:0.0	.	358;358	F5H2E3;O60890	.;OPHN1_HUMAN	I	358	ENSP00000347710:L358I;ENSP00000438617:L358I	ENSP00000347710:L358I	L	-	1	2	OPHN1	67333785	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.439000	0.52878	2.353000	0.79882	0.600000	0.82982	CTA		0.478	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		10	55	1	0	0.00829132	1	0.00869385	10	55				
HCN3	57657	broad.mit.edu	37	1	155258082	155258082	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258082C>A	ENST00000368358.3	+	8	2161	c.2153C>A	c.(2152-2154)tCt>tAt	p.S718Y	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCAACCCTCTCTGCCTCAG	0.692																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2152-2154)tCt>tAt		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							21.0	22.0	21.0					1																	155258082		2202	4291	6493	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155258082C>A	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2153C>A	1.37:g.155258082C>A	ENSP00000357342:p.Ser718Tyr					HCN3_ENST00000496230.1_3'UTR	p.S718Y	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	2161	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		718			Pro-rich.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.2153C>A	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094492	0.36952	.	.	ENSG00000143630	ENST00000368358	D	0.98901	-5.22	5.01	4.09	0.47781	.	0.000000	0.49916	D	0.000121	D	0.92675	0.7672	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.15141	0.012;0.001	B;B	0.06405	0.002;0.0	D	0.89234	0.3579	10	0.56958	D	0.05	.	10.7507	0.46207	0.3454:0.6546:0.0:0.0	.	413;718	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	Y	718	ENSP00000357342:S718Y	ENSP00000357342:S718Y	S	+	2	0	HCN3	153524706	0.133000	0.22466	0.994000	0.49952	0.986000	0.74619	1.814000	0.38972	1.458000	0.47871	0.557000	0.71058	TCT		0.692	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		6	14	1	0	0.0381472	1	0.0390147	6	14				
MED15	51586	broad.mit.edu	37	22	20909246	20909246	+	Missense_Mutation	SNP	C	C	A	rs145726043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20909246C>A	ENST00000263205.7	+	5	331	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.L62M|MED15_ENST00000541476.1_Missense_Mutation_p.L62M|MED15_ENST00000292733.7_Missense_Mutation_p.L88M|MED15_ENST00000382974.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	88					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACTCCAGAGCCTGACTGGCGG	0.617																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(262-264)Ctg>Atg		mediator complex subunit 15							47.0	49.0	48.0					22																	20909246		2203	4298	6501	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20909246C>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.262C>A	22.37:g.20909246C>A	ENSP00000263205:p.Leu88Met					MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.L62M|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.L62M|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.L88M	p.L88M	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		5	331	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	88					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.262C>A	CCDS33602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.49|16.49	3.136961|3.136961	0.56936|0.56936	.|.	.|.	ENSG00000099917|ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000541476;ENST00000445189;ENST00000542312;ENST00000451058;ENST00000457322;ENST00000424287|ENST00000423862	T|.	0.75367|.	-0.93|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Mediator complex, subunit Med15, metazoa (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.64193|0.64193	0.2576|0.2576	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.997;0.997;0.997;0.999|.	D;D;D;D|.	0.87578|.	0.995;0.991;0.991;0.998|.	T|T	0.63341|0.63341	-0.6659|-0.6659	10|5	0.72032|.	D|.	0.01|.	.|.	10.1552|10.1552	0.42818|0.42818	0.0:0.9093:0.0:0.0907|0.0:0.9093:0.0:0.0907	.|.	107;62;88;88|.	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5|.	.;.;.;MED15_HUMAN|.	M|H	62;62;88;88;62;62;62;62;62;49;41|55	ENSP00000263205:L88M|.	ENSP00000263205:L88M|.	L|P	+|+	1|2	2|0	MED15|MED15	19239246|19239246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	1.484000|1.484000	0.35508|0.35508	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.617	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		5	58	1	0	3.59834e-05	1	4.01776e-05	5	58				
GPR125	166647	broad.mit.edu	37	4	22438079	22438079	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22438079A>T	ENST00000334304.5	-	9	1540	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.L198H|GPR125_ENST00000502482.1_Missense_Mutation_p.L424H	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	424					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAACATATAAAGAACTCTAGT	0.353																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1270-1272)cTt>cAt		G protein-coupled receptor 125							75.0	72.0	73.0					4																	22438079		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22438079A>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1271T>A	4.37:g.22438079A>T	ENSP00000334952:p.Leu424His					GPR125_ENST00000508133.1_Missense_Mutation_p.L198H|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.L424H	p.L424H	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			9	1540	-		Breast(46;0.198)	424					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1271T>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453249	0.84209	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.60424	0.19;0.19;0.19	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.998	T	0.79254	-0.1879	10	0.87932	D	0	-21.1488	16.5885	0.84745	1.0:0.0:0.0:0.0	.	299;424;198;424	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	H	424;198;424	ENSP00000334952:L424H;ENSP00000422606:L198H;ENSP00000421006:L424H	ENSP00000334952:L424H	L	-	2	0	GPR125	22047177	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	8.627000	0.90974	2.317000	0.78254	0.460000	0.39030	CTT		0.353	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	44	0	0	0	1	0	4	44				
MUC6	4588	broad.mit.edu	37	11	1016442	1016442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1016442G>A	ENST00000421673.2	-	31	6409	c.6359C>T	c.(6358-6360)cCt>cTt	p.P2120L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2120	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAAACAGGAGTGGTTGC	0.527																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6358-6360)cCt>cTt		mucin 6, oligomeric mucus/gel-forming							111.0	116.0	114.0					11																	1016442		2060	4208	6268	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016442G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6359C>T	11.37:g.1016442G>A	ENSP00000406861:p.Pro2120Leu						p.P2120L	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6409	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2120			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6359C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313612	0.23908	.	.	ENSG00000184956	ENST00000421673	T	0.20598	2.06	2.12	2.12	0.27331	.	.	.	.	.	T	0.12860	0.0312	L	0.29908	0.895	0.09310	N	1	B	0.28324	0.207	B	0.14578	0.011	T	0.18777	-1.0326	9	0.62326	D	0.03	.	5.2525	0.15529	0.191:0.0:0.809:0.0	.	2120	Q6W4X9	MUC6_HUMAN	L	2120	ENSP00000406861:P2120L	ENSP00000406861:P2120L	P	-	2	0	MUC6	1006442	0.000000	0.05858	0.003000	0.11579	0.277000	0.26821	-0.477000	0.06583	1.116000	0.41820	0.185000	0.17295	CCT		0.527	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		43	33	0	0	0	1	0	43	33				
TOM1	10043	broad.mit.edu	37	22	35741775	35741775	+	Missense_Mutation	SNP	G	G	A	rs200895178		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35741775G>A	ENST00000449058.2	+	13	1407	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	TOM1_ENST00000447733.1_Missense_Mutation_p.V395M|TOM1_ENST00000436462.2_Missense_Mutation_p.V390M|TOM1_ENST00000425375.1_Missense_Mutation_p.V383M|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000411850.1_Missense_Mutation_p.V428M	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	428					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GTCCACTGACGTGGTATGTTG	0.567																																						ENST00000411850.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						c.(1282-1284)Gtg>Atg		target of myb1 (chicken)							143.0	104.0	117.0					22																	35741775		2203	4300	6503	SO:0001583	missense	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35741775G>A	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.1282G>A	22.37:g.35741775G>A	ENSP00000394466:p.Val428Met					TOM1_ENST00000425375.1_Missense_Mutation_p.V383M|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000449058.2_Missense_Mutation_p.V428M|TOM1_ENST00000436462.2_Missense_Mutation_p.V390M|TOM1_ENST00000447733.1_Missense_Mutation_p.V395M	p.V428M	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN			13	1407	+			428					B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	c.1282G>A	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005819	0.35415	.	.	ENSG00000100284	ENST00000447733;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000412456;ENST00000451197;ENST00000436462	T;T;T;T;T	0.25414	1.82;1.84;1.82;1.81;1.8	4.71	4.71	0.59529	.	1.489560	0.03917	N	0.282847	T	0.55081	0.1898	M	0.68952	2.095	0.80722	D	1	D;P;P;P;P	0.89917	1.0;0.888;0.776;0.827;0.602	D;B;B;B;B	0.87578	0.998;0.265;0.154;0.32;0.121	T	0.06320	-1.0833	10	0.46703	T	0.11	-22.4828	14.571	0.68210	0.0:0.0:1.0:0.0	.	383;390;437;428;428	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	M	395;428;428;383;165;437;390	ENSP00000398876:V395M;ENSP00000394466:V428M;ENSP00000413697:V428M;ENSP00000394924:V383M;ENSP00000402556:V390M	ENSP00000413697:V428M	V	+	1	0	TOM1	34071775	1.000000	0.71417	0.947000	0.38551	0.709000	0.40893	6.787000	0.75099	2.171000	0.68590	0.462000	0.41574	GTG		0.567	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		4	46	0	0	0	1	0	4	46				
MAN2B2	23324	broad.mit.edu	37	4	6588806	6588806	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588806A>T	ENST00000285599.3	+	4	511	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	MAN2B2_ENST00000504248.1_Missense_Mutation_p.T159S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	159					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTCTGCCACGACGCCCACCCT	0.602																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(475-477)Acg>Tcg		mannosidase, alpha, class 2B, member 2							63.0	59.0	61.0					4																	6588806		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6588806A>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.475A>T	4.37:g.6588806A>T	ENSP00000285599:p.Thr159Ser					MAN2B2_ENST00000504248.1_Missense_Mutation_p.T159S	p.T159S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			4	511	+			159					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.475A>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308184	0.60305	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.24151	1.87;1.87	4.09	4.09	0.47781	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.386686	0.28595	N	0.014792	T	0.36026	0.0952	L	0.56396	1.775	0.41131	D	0.985888	D;D;P	0.56287	0.975;0.975;0.753	P;P;B	0.61397	0.822;0.888;0.381	T	0.22243	-1.0222	10	0.11794	T	0.64	-27.1781	8.1871	0.31346	0.8212:0.0:0.0:0.1788	.	159;159;159	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	S	159	ENSP00000285599:T159S;ENSP00000423129:T159S	ENSP00000285599:T159S	T	+	1	0	MAN2B2	6639707	1.000000	0.71417	0.766000	0.31476	0.797000	0.45037	5.745000	0.68672	1.602000	0.50124	0.448000	0.29417	ACG		0.602	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		4	39	0	0	0	1	0	4	39				
ZNF18	7566	broad.mit.edu	37	17	11887482	11887482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11887482C>A	ENST00000322748.3	-	7	1303	c.699G>T	c.(697-699)aaG>aaT	p.K233N	ZNF18_ENST00000580306.2_Missense_Mutation_p.K233N|ZNF18_ENST00000454073.3_Missense_Mutation_p.K233N	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	233	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGTATTGCTCCTTTTGAGTGG	0.448																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(697-699)aaG>aaT		zinc finger protein 18							131.0	108.0	115.0					17																	11887482		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11887482C>A	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.699G>T	17.37:g.11887482C>A	ENSP00000315664:p.Lys233Asn					ZNF18_ENST00000454073.3_Missense_Mutation_p.K233N|ZNF18_ENST00000580306.1_Missense_Mutation_p.K233N|ZNF18_ENST00000580613.1_Missense_Mutation_p.K182N	p.K233N	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	7	1303	-			233			KRAB.		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.699G>T	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632621	0.29068	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.02944	4.1;4.1	4.39	3.41	0.39046	Krueppel-associated box (4);	0.150076	0.31507	N	0.007532	T	0.14270	0.0345	M	0.90814	3.15	0.35240	D	0.777712	D;D	0.76494	0.999;0.999	D;D	0.70487	0.964;0.969	T	0.02031	-1.1226	10	0.72032	D	0.01	-31.3128	5.9766	0.19382	0.0:0.7934:0.0:0.2066	.	233;233	P17022-2;P17022	.;ZNF18_HUMAN	N	233	ENSP00000391376:K233N;ENSP00000315664:K233N	ENSP00000315664:K233N	K	-	3	2	ZNF18	11828207	0.940000	0.31905	1.000000	0.80357	0.998000	0.95712	0.283000	0.18846	2.426000	0.82243	0.650000	0.86243	AAG		0.448	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		10	15	1	0	2.17888e-05	1	2.45068e-05	10	15				
TSNAXIP1	55815	broad.mit.edu	37	16	67858679	67858679	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67858679C>T	ENST00000388833.3	+	6	890	c.513C>T	c.(511-513)agC>agT	p.S171S	TSNAXIP1_ENST00000561639.1_Silent_p.S225S|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Silent_p.S156S	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CATTGCAGAGCGAGGTGAATG	0.478																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(511-513)agC>agT		translin-associated factor X interacting protein 1							64.0	63.0	63.0					16																	67858679		2055	4193	6248	SO:0001819	synonymous_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67858679C>T	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.513C>T	16.37:g.67858679C>T						TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Silent_p.S225S|TSNAXIP1_ENST00000415766.3_Silent_p.S156S	p.S171S	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	6	890	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	171						Silent	SNP	ENST00000388833.3	37	c.513C>T	CCDS10846.2																																																																																				0.478	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		10	14	0	0	0	1	0	10	14				
UBA7	7318	broad.mit.edu	37	3	49847552	49847552	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847552G>A	ENST00000333486.3	-	14	1856	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	566	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCCCCAGGTGCCCGATGTGC	0.607																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1696-1698)ggC>ggT		ubiquitin-like modifier activating enzyme 7							47.0	41.0	43.0					3																	49847552		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847552G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1698C>T	3.37:g.49847552G>A							p.G566G	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	14	1856	-			566			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1698C>T	CCDS2805.1																																																																																				0.607	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		8	32	0	0	0	1	0	8	32				
BFAR	51283	broad.mit.edu	37	16	14761613	14761613	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14761613T>C	ENST00000261658.2	+	8	1559	c.1282T>C	c.(1282-1284)Tac>Cac	p.Y428H	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.Y303H|BFAR_ENST00000426842.2_Missense_Mutation_p.Y300H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	428					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTGGGCCCTGTACTTTAACCC	0.493																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(1282-1284)Tac>Cac		bifunctional apoptosis regulator							136.0	131.0	133.0					16																	14761613		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761613T>C	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1282T>C	16.37:g.14761613T>C	ENSP00000261658:p.Tyr428His					BFAR_ENST00000563971.1_Missense_Mutation_p.Y303H|BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.Y300H	p.Y428H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			8	1559	+			428					A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.1282T>C	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629929	0.87660	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.61392	2.45;0.11	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.69807	-0.5045	10	0.87932	D	0	.	14.9381	0.70973	0.0:0.0:0.0:1.0	.	300;428;428	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	H	428;300	ENSP00000261658:Y428H;ENSP00000400634:Y300H	ENSP00000261658:Y428H	Y	+	1	0	BFAR	14669114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.817000	0.86213	2.121000	0.65114	0.460000	0.39030	TAC		0.493	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		56	73	0	0	0	1	0	56	73				
TCHHL1	126637	broad.mit.edu	37	1	152059177	152059177	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152059177G>A	ENST00000368806.1	-	3	1045	c.981C>T	c.(979-981)gtC>gtT	p.V327V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	327							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACATTCTACAGACATCCTTGG	0.463																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(979-981)gtC>gtT		trichohyalin-like 1							235.0	220.0	225.0					1																	152059177		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152059177G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.981C>T	1.37:g.152059177G>A							p.V327V	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1045	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		327					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.981C>T	CCDS30857.1																																																																																				0.463	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		122	158	0	0	0	1	0	122	158				
ZNF343	79175	broad.mit.edu	37	20	2474511	2474511	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2474511C>A	ENST00000278772.4	-	3	518	c.31G>T	c.(31-33)Gat>Tat	p.D11Y	ZNF343_ENST00000381253.1_Missense_Mutation_p.D11Y|ZNF343_ENST00000358413.2_Missense_Mutation_p.D11Y|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.D11Y	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CAGTATTGATCTCCCAGTGCT	0.433																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(31-33)Gat>Tat		zinc finger protein 343							133.0	136.0	135.0					20																	2474511		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2474511C>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.31G>T	20.37:g.2474511C>A	ENSP00000278772:p.Asp11Tyr					RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.D11Y|ZNF343_ENST00000381253.1_Missense_Mutation_p.D11Y|ZNF343_ENST00000358413.2_Missense_Mutation_p.D11Y	p.D11Y	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			3	518	-			11					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.31G>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	c	8.815	0.936083	0.18206	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.08807	3.05;4.57;4.59;4.59;4.31	2.77	1.8	0.24995	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	P	0.43352	0.804	B	0.31614	0.133	T	0.39781	-0.9597	9	0.56958	D	0.05	.	7.6191	0.28175	0.0:0.7353:0.2647:0.0	.	11	Q6P1L6	ZN343_HUMAN	Y	11	ENSP00000278772:D11Y;ENSP00000399682:D11Y;ENSP00000370652:D11Y;ENSP00000351188:D11Y;ENSP00000416488:D11Y	ENSP00000443337:D11Y	D	-	1	0	ZNF343	2422511	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.099000	0.15210	0.725000	0.32318	-0.187000	0.12897	GAT		0.433	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		13	152	1	0	6.72482e-11	1	8.32712e-11	13	152				
DOCK6	57572	broad.mit.edu	37	19	11322803	11322803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11322803C>T	ENST00000294618.7	-	36	4527	c.4516G>A	c.(4516-4518)Gtc>Atc	p.V1506I	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.V845I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1506					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GACATGGTGACCTGCATCTTC	0.592																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4516-4518)Gtc>Atc		dedicator of cytokinesis 6							40.0	39.0	39.0					19																	11322803		2047	4187	6234	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11322803C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4516G>A	19.37:g.11322803C>T	ENSP00000294618:p.Val1506Ile					DOCK6_ENST00000319867.7_Missense_Mutation_p.V845I|CTC-510F12.2_ENST00000588634.1_RNA	p.V1506I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			36	4527	-			1506			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4516G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836049	0.91117	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.01854	4.6;4.6	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	L	0.43152	1.355	0.80722	D	1	P;B	0.46952	0.887;0.125	P;B	0.51945	0.685;0.168	T	0.48293	-0.9048	10	0.42905	T	0.14	-28.9062	16.6899	0.85318	0.0:1.0:0.0:0.0	.	845;1506	C9IZV6;Q96HP0	.;DOCK6_HUMAN	I	1506;845	ENSP00000294618:V1506I;ENSP00000321556:V845I	ENSP00000294618:V1506I	V	-	1	0	DOCK6	11183803	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.592000	0.82676	2.307000	0.77673	0.655000	0.94253	GTC		0.592	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		6	17	0	0	0	1	0	6	17				
ZNF251	90987	broad.mit.edu	37	8	145947321	145947321	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947321A>G	ENST00000292562.7	-	5	1999	c.1724T>C	c.(1723-1725)tTc>tCc	p.F575S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGGGACTGAAAGCTTTTCC	0.458																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1723-1725)tTc>tCc		zinc finger protein 251							76.0	75.0	76.0					8																	145947321		2008	4210	6218	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947321A>G	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1724T>C	8.37:g.145947321A>G	ENSP00000292562:p.Phe575Ser					ZNF251_ENST00000524394.1_Intron	p.F575S	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1999	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		575					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1724T>C	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200669	0.38905	.	.	ENSG00000198169	ENST00000292562	T	0.02737	4.18	1.6	0.273	0.15650	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	M	0.93197	3.39	0.26074	N	0.981182	D	0.58268	0.982	P	0.55112	0.769	T	0.05209	-1.0899	9	0.87932	D	0	-3.1709	5.7539	0.18162	0.7484:0.0:0.0:0.2516	.	575	Q9BRH9	ZN251_HUMAN	S	575	ENSP00000292562:F575S	ENSP00000292562:F575S	F	-	2	0	ZNF251	145918130	0.054000	0.20591	0.131000	0.22000	0.966000	0.64601	0.860000	0.27871	0.057000	0.16193	0.460000	0.39030	TTC		0.458	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		5	85	0	0	0	1	0	5	85				
TRIM42	287015	broad.mit.edu	37	3	140401710	140401710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140401710C>T	ENST00000286349.3	+	2	939	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	250						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTTACAAGCGCTGCATCAC	0.622																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(748-750)Cgc>Tgc		tripartite motif containing 42							88.0	82.0	84.0					3																	140401710		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401710C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.748C>T	3.37:g.140401710C>T	ENSP00000286349:p.Arg250Cys						p.R250C	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	939	+			250					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.748C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895562	0.72639	.	.	ENSG00000155890	ENST00000286349	T	0.39229	1.09	5.2	4.31	0.51392	.	0.221219	0.30483	N	0.009537	T	0.52917	0.1764	L	0.49778	1.585	0.43559	D	0.995877	D	0.89917	1.0	D	0.64410	0.925	T	0.53542	-0.8424	10	0.62326	D	0.03	-6.9449	10.0525	0.42225	0.0:0.9039:0.0:0.0961	.	250	Q8IWZ5	TRI42_HUMAN	C	250	ENSP00000286349:R250C	ENSP00000286349:R250C	R	+	1	0	TRIM42	141884400	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.489000	0.45285	2.435000	0.82474	0.561000	0.74099	CGC		0.622	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		19	26	0	0	0	1	0	19	26				
ZRANB1	54764	broad.mit.edu	37	10	126631286	126631286	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126631286G>T	ENST00000359653.4	+	1	595	c.224G>T	c.(223-225)aGg>aTg	p.R75M	RP11-298J20.3_ENST00000449984.1_RNA|RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	75					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCAAGACCAAGGGTGAAATCT	0.428																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(223-225)aGg>aTg		zinc finger, RAN-binding domain containing 1							144.0	130.0	134.0					10																	126631286		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126631286G>T	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.224G>T	10.37:g.126631286G>T	ENSP00000352676:p.Arg75Met					RP11-298J20.4_ENST00000508096.1_RNA	p.R75M	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	1	595	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	75					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.224G>T	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798568	0.70567	.	.	ENSG00000019995	ENST00000359653	T	0.18810	2.19	5.63	5.63	0.86233	.	0.046667	0.85682	D	0.000000	T	0.40645	0.1125	L	0.51422	1.61	0.80722	D	1	D	0.65815	0.995	P	0.61328	0.887	T	0.03750	-1.1007	10	0.48119	T	0.1	-17.5035	19.6746	0.95926	0.0:0.0:1.0:0.0	.	75	Q9UGI0	ZRAN1_HUMAN	M	75	ENSP00000352676:R75M	ENSP00000352676:R75M	R	+	2	0	ZRANB1	126621276	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.654000	0.90174	0.655000	0.94253	AGG		0.428	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		36	55	1	0	3.03874e-20	1	3.98683e-20	36	55				
LDLRAD2	401944	broad.mit.edu	37	1	22141118	22141118	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22141118G>A	ENST00000344642.2	+	2	500	c.313G>A	c.(313-315)Gac>Aac	p.D105N	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.D105N	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	105						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GGCCCCGGCCGACCCGTGCGC	0.756																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(313-315)Gac>Aac		low density lipoprotein receptor class A domain containing 2							7.0	10.0	9.0					1																	22141118		2090	4092	6182	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22141118G>A	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.313G>A	1.37:g.22141118G>A	ENSP00000340988:p.Asp105Asn					LDLRAD2_ENST00000543870.1_Missense_Mutation_p.D105N	p.D105N	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	500	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	105					B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.313G>A	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924072	0.73213	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.50277	0.75;0.75	4.5	4.5	0.54988	CUB (2);	0.084956	0.41605	D	0.000843	T	0.45276	0.1334	L	0.55481	1.735	0.37421	D	0.913654	P	0.44309	0.832	B	0.39971	0.315	T	0.59989	-0.7350	10	0.66056	D	0.02	-7.4343	14.7074	0.69200	0.0:0.0:1.0:0.0	.	105	Q5SZI1	LRAD2_HUMAN	N	105	ENSP00000340988:D105N;ENSP00000444097:D105N	ENSP00000340988:D105N	D	+	1	0	LDLRAD2	22013705	1.000000	0.71417	0.039000	0.18376	0.254000	0.26022	5.058000	0.64300	2.058000	0.61347	0.448000	0.29417	GAC		0.756	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		10	8	0	0	0	1	0	10	8				
TTN	7273	broad.mit.edu	37	2	179499996	179499996	+	Missense_Mutation	SNP	C	C	T	rs373881831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179499996C>T	ENST00000591111.1	-	178	37221	c.36997G>A	c.(36997-36999)Gtt>Att	p.V12333I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4909I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5034I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11406I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13974I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5101I|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12333					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATGGTAACGTCCTCTATT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41920-41922)Gtt>Att		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3773		0,1,1886	169.0	151.0	157.0		14725,34216,15100,15301	5.9	1.0	2		157	1,8239		0,1,4119	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,2,6005	TT,TC,CC		0.0121,0.0265,0.0166	probably-damaging,probably-damaging,probably-damaging,probably-damaging	4909/26927,11406/33424,5034/27052,5101/27119	179499996	2,12012	1887	4120	6007	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179499996C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36997G>A	2.37:g.179499996C>T	ENSP00000465570:p.Val12333Ile					TTN_ENST00000460472.2_Missense_Mutation_p.V4909I|TTN_ENST00000342992.6_Missense_Mutation_p.V11406I|TTN_ENST00000359218.5_Missense_Mutation_p.V5034I|TTN_ENST00000342175.6_Missense_Mutation_p.V5101I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12333I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.V13974I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		228	42144	-			12333			Ig-like 95.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41920G>A		.	.	.	.	.	.	.	.	.	.	C	14.90	2.673865	0.47781	2.65E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43942	0.1270	L	0.60455	1.87	0.48901	D	0.999725	D;D;D;D	0.63046	0.985;0.985;0.985;0.992	B;B;B;P	0.44518	0.307;0.307;0.307;0.452	T	0.45220	-0.9276	9	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	4909;5034;5101;12333	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	11406;4909;5101;5034;4909	ENSP00000343764:V11406I;ENSP00000434586:V4909I;ENSP00000340554:V5101I;ENSP00000352154:V5034I	ENSP00000340554:V5101I	V	-	1	0	TTN	179208241	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.301000	0.51842	2.825000	0.97269	0.655000	0.94253	GTT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	39	0	0	0	1	0	19	39				
CDS2	8760	broad.mit.edu	37	20	5159588	5159588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159588C>T	ENST00000460006.1	+	5	822	c.515C>T	c.(514-516)aCt>aTt	p.T172I	CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.T52I|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	172					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATTTCCTTTACTCTCTATCTA	0.408																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(514-516)aCt>aTt		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							168.0	157.0	161.0					20																	5159588		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5159588C>T	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.515C>T	20.37:g.5159588C>T	ENSP00000419879:p.Thr172Ile					CDS2_ENST00000379062.4_Missense_Mutation_p.T52I|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'UTR	p.T172I	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			5	822	+			172					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.515C>T	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856638	0.51376	.	.	ENSG00000101290	ENST00000460006;ENST00000450570;ENST00000379062	T;T;T	0.39997	1.05;1.05;1.05	4.94	4.94	0.65067	.	0.096582	0.64402	D	0.000001	T	0.26810	0.0656	N	0.10733	0.035	0.80722	D	1	B;B;B;B	0.26318	0.04;0.146;0.091;0.091	B;B;B;B	0.32289	0.102;0.143;0.063;0.063	T	0.09357	-1.0678	10	0.15952	T	0.53	-26.5365	16.89	0.86084	0.0:1.0:0.0:0.0	.	52;172;172;172	E7EQ83;B3KM95;O95674;B3KNK4	.;.;CDS2_HUMAN;.	I	172;117;52	ENSP00000419879:T172I;ENSP00000403205:T117I;ENSP00000368352:T52I	ENSP00000368352:T52I	T	+	2	0	CDS2	5107588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.559000	0.82265	2.545000	0.85829	0.655000	0.94253	ACT		0.408	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			6	97	0	0	0	1	0	6	97				
KIAA1244	57221	broad.mit.edu	37	6	138599732	138599732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138599732C>T	ENST00000251691.4	+	13	2439	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGAAGCGGCCGACCCTGGCG	0.607																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2272-2274)cCg>cTg		KIAA1244							98.0	82.0	87.0					6																	138599732		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138599732C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2273C>T	6.37:g.138599732C>T	ENSP00000251691:p.Pro758Leu						p.P758L	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	13	2439	+	Breast(32;0.135)		758			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2273C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291657	0.80914	.	.	ENSG00000112379	ENST00000251691	T	0.39056	1.1	5.55	5.55	0.83447	SEC7-like (1);	0.408851	0.29646	N	0.011568	T	0.40094	0.1103	L	0.51422	1.61	0.80722	D	1	D	0.63880	0.993	P	0.50136	0.632	T	0.28870	-1.0030	10	0.56958	D	0.05	-23.6915	17.6783	0.88236	0.0:1.0:0.0:0.0	.	758	Q5TH69	BIG3_HUMAN	L	758	ENSP00000251691:P758L	ENSP00000251691:P758L	P	+	2	0	KIAA1244	138641425	0.998000	0.40836	0.956000	0.39512	0.922000	0.55478	3.308000	0.51896	2.608000	0.88229	0.462000	0.41574	CCG		0.607	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		30	42	0	0	0	1	0	30	42				
HM13	81502	broad.mit.edu	37	20	30142623	30142623	+	Missense_Mutation	SNP	G	G	A	rs372753255		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30142623G>A	ENST00000340852.5	+	8	923	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HM13_ENST00000335574.5_Missense_Mutation_p.V267I|HM13_ENST00000376127.3_Missense_Mutation_p.V225I|HM13_ENST00000398174.3_Missense_Mutation_p.V267I|HM13_ENST00000492709.1_3'UTR	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	267					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGAGATGTCGTCATTCCAGG	0.562																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(799-801)Gtc>Atc		histocompatibility (minor) 13		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	129.0	124.0	126.0		799,799,799	5.4	1.0	20		126	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	HM13	NM_030789.2,NM_178580.1,NM_178581.1	29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	267/378,267/395,267/427	30142623	2,13004	2203	4300	6503	SO:0001583	missense	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30142623G>A	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.799G>A	20.37:g.30142623G>A	ENSP00000343032:p.Val267Ile					HM13_ENST00000376127.3_Missense_Mutation_p.V225I|HM13_ENST00000340852.5_Missense_Mutation_p.V267I|HM13_ENST00000398174.3_Missense_Mutation_p.V267I|HM13_ENST00000492709.1_3'UTR	p.V267I	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		8	923	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		267					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.799G>A	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176623	0.94846	0.0	2.33E-4	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.37	5.37	0.77165	.	0.110901	0.64402	D	0.000010	T	0.40272	0.1110	M	0.71581	2.175	0.80722	D	1	D;P;B	0.60160	0.987;0.893;0.383	P;B;B	0.55965	0.788;0.394;0.079	T	0.08513	-1.0718	10	0.28530	T	0.3	-2.9469	18.1003	0.89504	0.0:0.0:1.0:0.0	.	267;267;267	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	I	267;267;267;225;225	ENSP00000335294:V267I;ENSP00000343032:V267I;ENSP00000381237:V267I;ENSP00000365296:V225I;ENSP00000341347:V225I	ENSP00000335294:V267I	V	+	1	0	HM13	29606284	1.000000	0.71417	0.988000	0.46212	0.723000	0.41478	9.329000	0.96413	2.531000	0.85337	0.557000	0.71058	GTC		0.562	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		16	41	0	0	0	1	0	16	41				
RNF123	63891	broad.mit.edu	37	3	49725255	49725255	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49725255G>A	ENST00000327697.6	+	0	0				MST1_ENST00000545762.1_Missense_Mutation_p.P43L|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Intron|MST1_ENST00000494828.2_Intron|MST1_ENST00000449682.2_Missense_Mutation_p.P57L|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCAAGGCCCGGGCACCACCGC	0.612																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(169-171)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							28.0	28.0	28.0					3																	49725255		2202	4298	6500	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725255G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725255G>A	Exception_encountered					MST1_ENST00000545762.1_Missense_Mutation_p.P43L|MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron	p.P57L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	531	-			43			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.170C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	8.261	0.811271	0.16537	.	.	ENSG00000173531	ENST00000449682;ENST00000545762	D;D	0.88664	-2.41;-2.41	5.3	5.3	0.74995	.	0.000000	0.36482	N	0.002563	T	0.79246	0.4413	N	0.21448	0.665	0.20074	N	0.999933	B;B	0.25235	0.121;0.011	B;B	0.26416	0.069;0.01	T	0.62374	-0.6868	10	0.13108	T	0.6	.	9.54	0.39246	0.0:0.1422:0.6902:0.1676	.	43;57	B7Z538;G3XAK1	.;.	L	57;43	ENSP00000414287:P57L;ENSP00000437535:P43L	ENSP00000411117:P57L	P	-	2	0	MST1	49700259	0.000000	0.05858	0.029000	0.17559	0.378000	0.30076	0.378000	0.20569	2.644000	0.89710	0.591000	0.81541	CCC		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		12	16	0	0	0	1	0	12	16				
CPA5	93979	broad.mit.edu	37	7	130007766	130007766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130007766C>T	ENST00000485477.1	+	11	2187	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	CPA5_ENST00000393213.3_Missense_Mutation_p.A353V|CPA5_ENST00000355388.3_Missense_Mutation_p.A353V|CPA5_ENST00000466363.2_Missense_Mutation_p.A353V|CPA5_ENST00000431780.2_Intron|CPA5_ENST00000461828.1_Missense_Mutation_p.A353V|CPA5_ENST00000474905.1_Missense_Mutation_p.A353V			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	353						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCCAAGGATGCGGTGGAGGCC	0.602																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1057-1059)gCg>gTg		carboxypeptidase A5							140.0	103.0	116.0					7																	130007766		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130007766C>T	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1058C>T	7.37:g.130007766C>T	ENSP00000420237:p.Ala353Val					CPA5_ENST00000461828.1_Missense_Mutation_p.A353V|CPA5_ENST00000355388.3_Missense_Mutation_p.A353V|CPA5_ENST00000474905.1_Missense_Mutation_p.A353V|CPA5_ENST00000466363.2_Missense_Mutation_p.A353V|CPA5_ENST00000393213.3_Missense_Mutation_p.A353V|CPA5_ENST00000431780.2_Intron	p.A353V			Q8WXQ8	CBPA5_HUMAN			11	2187	+	Melanoma(18;0.0435)		353					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1058C>T	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556505	0.96514	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78	6.06	6.06	0.98353	Peptidase M14, carboxypeptidase A (2);	0.000000	0.64402	D	0.000006	T	0.40498	0.1119	M	0.84683	2.71	0.58432	D	0.999995	D	0.89917	1.0	D	0.76575	0.988	T	0.11108	-1.0601	9	.	.	.	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	353	Q8WXQ8	CBPA5_HUMAN	V	353	ENSP00000347549:A353V;ENSP00000418183:A353V;ENSP00000419025:A353V;ENSP00000420237:A353V;ENSP00000417314:A353V;ENSP00000376907:A353V	.	A	+	2	0	CPA5	129795002	1.000000	0.71417	0.512000	0.27736	0.237000	0.25408	6.913000	0.75759	2.882000	0.98803	0.655000	0.94253	GCG		0.602	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		31	26	0	0	0	1	0	31	26				
KIAA1919	91749	broad.mit.edu	37	6	111587087	111587087	+	Missense_Mutation	SNP	G	G	A	rs554182726		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587087G>A	ENST00000368847.4	+	4	675	c.322G>A	c.(322-324)Gtc>Atc	p.V108I		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	108					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGTGGTAACGTCCTTATCTT	0.408																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(322-324)Gtc>Atc		KIAA1919							75.0	79.0	77.0					6																	111587087		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587087G>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.322G>A	6.37:g.111587087G>A	ENSP00000357840:p.Val108Ile						p.V108I	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	675	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	108					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.322G>A	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738657	0.49045	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.84	2.12	0.27331	Major facilitator superfamily domain, general substrate transporter (1);	0.232536	0.43579	N	0.000549	T	0.30727	0.0774	L	0.60845	1.875	0.48040	D	0.999577	P	0.36633	0.562	B	0.36608	0.229	T	0.10132	-1.0643	10	0.42905	T	0.14	-9.9159	9.9064	0.41379	0.2699:0.0:0.7301:0.0	.	108	Q5TF39	NAGT1_HUMAN	I	108	ENSP00000357840:V108I	ENSP00000357840:V108I	V	+	1	0	KIAA1919	111693780	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	2.692000	0.47018	0.397000	0.25310	0.637000	0.83480	GTC		0.408	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		18	36	0	0	0	1	0	18	36				
NOS3	4846	broad.mit.edu	37	7	150710953	150710953	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150710953A>G	ENST00000297494.3	+	26	3754	c.3397A>G	c.(3397-3399)Acg>Gcg	p.T1133A	NOS3_ENST00000461406.1_Missense_Mutation_p.T927A|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCCTGGCGACGGAGGGCGA	0.697																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3397-3399)Acg>Gcg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						35.0	26.0	29.0					7																	150710953		2200	4297	6497	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150710953A>G		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3397A>G	7.37:g.150710953A>G	ENSP00000297494:p.Thr1133Ala					NOS3_ENST00000461406.1_Missense_Mutation_p.T927A|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_3'UTR	p.T1133A	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	26	3754	+	all_neural(206;0.219)		1133					Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.3397A>G	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107196	0.56291	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.77620	-1.11;-1.11	4.36	4.36	0.52297	.	0.227351	0.30667	N	0.009127	T	0.56949	0.2020	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.14023	0.004;0.01	T	0.51044	-0.8755	10	0.16420	T	0.52	-5.7182	7.398	0.26948	0.8061:0.0:0.0:0.1939	.	927;1133	E7ESA7;P29474	.;NOS3_HUMAN	A	1133;927	ENSP00000297494:T1133A;ENSP00000417143:T927A	ENSP00000297494:T1133A	T	+	1	0	NOS3	150341886	0.013000	0.17824	0.930000	0.37139	0.916000	0.54674	2.213000	0.42844	1.962000	0.57031	0.482000	0.46254	ACG		0.697	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		3	5	0	0	0	1	0	3	5				
GPLD1	2822	broad.mit.edu	37	6	24475410	24475410	+	Missense_Mutation	SNP	G	G	A	rs143874618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24475410G>A	ENST00000230036.1	-	5	490	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	127					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GACATCTGCCGCCATGTGAGA	0.438													G|||	5	0.000998403	0.0	0.0	5008	,	,		15397	0.0		0.0	False		,,,				2504	0.0051					ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(379-381)gCg>gTg		glycosylphosphatidylinositol specific phospholipase D1		G	VAL/ALA,VAL/ALA	1,4405		0,1,2202	118.0	107.0	111.0		380,380	1.7	1.0	6	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GPLD1	NM_001503.2,NM_177483.1	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	127/841,127/177	24475410	2,13004	2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24475410G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.380C>T	6.37:g.24475410G>A	ENSP00000230036:p.Ala127Val					GPLD1_ENST00000474784.1_5'UTR	p.A127V	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			5	490	-			127					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.380C>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	G	4.965	0.179295	0.09443	2.27E-4	1.16E-4	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.38560	1.13	5.49	1.73	0.24493	.	0.705365	0.13618	N	0.374651	T	0.01489	0.0048	N	0.00057	-2.36	0.19575	N	0.999964	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.45644	-0.9247	10	0.02654	T	1	-9.924	5.0597	0.14551	0.683:0.1545:0.1624:0.0	.	127;127	P80108-2;P80108	.;PHLD_HUMAN	V	127	ENSP00000230036:A127V	ENSP00000230036:A127V	A	-	2	0	GPLD1	24583389	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	2.660000	0.46749	0.069000	0.16605	-0.250000	0.11733	GCG		0.438	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		21	48	0	0	0	1	0	21	48				
C8B	732	broad.mit.edu	37	1	57395139	57395139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57395139G>A	ENST00000371237.4	-	12	1780	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S	C8B_ENST00000543257.1_Missense_Mutation_p.P520S|C8B_ENST00000535057.1_Missense_Mutation_p.P510S	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	572	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTTTGAGGAGGTGGATTGTTA	0.483																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(1558-1560)Cct>Tct		complement component 8, beta polypeptide							135.0	115.0	122.0					1																	57395139		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57395139G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1714C>T	1.37:g.57395139G>A	ENSP00000360281:p.Pro572Ser					C8B_ENST00000535057.1_Missense_Mutation_p.P510S|C8B_ENST00000371237.4_Missense_Mutation_p.P572S	p.P520S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			13	2124	-			572			EGF-like.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1558C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	9.378	1.072271	0.20147	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.18174	2.23;2.23;2.23	3.76	1.76	0.24704	.	0.433382	0.26847	N	0.022199	T	0.07773	0.0195	N	0.20530	0.585	0.23341	N	0.997875	B;B;B	0.14012	0.002;0.009;0.005	B;B;B	0.13407	0.009;0.006;0.003	T	0.32402	-0.9908	10	0.15952	T	0.53	-0.2616	3.0588	0.06193	0.1502:0.4591:0.2437:0.147	.	520;510;572	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	S	572;520;510	ENSP00000360281:P572S;ENSP00000442548:P520S;ENSP00000440113:P510S	ENSP00000360281:P572S	P	-	1	0	C8B	57167727	0.001000	0.12720	0.996000	0.52242	0.916000	0.54674	-0.058000	0.11750	0.521000	0.28445	0.462000	0.41574	CCT		0.483	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			22	34	0	0	0	1	0	22	34				
UTP20	27340	broad.mit.edu	37	12	101757465	101757465	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101757465C>A	ENST00000261637.4	+	45	6076	c.5902C>A	c.(5902-5904)Ctc>Atc	p.L1968I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1968					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATGAAATCCTCGGCAAGTT	0.403																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5902-5904)Ctc>Atc		UTP20, small subunit (SSU) processome component, homolog (yeast)							113.0	100.0	104.0					12																	101757465		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101757465C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5902C>A	12.37:g.101757465C>A	ENSP00000261637:p.Leu1968Ile						p.L1968I	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			45	6076	+			1968					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5902C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161232	0.78226	.	.	ENSG00000120800	ENST00000261637	T	0.29142	1.58	5.92	4.09	0.47781	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	L	0.46614	1.455	0.58432	D	0.99999	D	0.64830	0.994	D	0.67548	0.952	T	0.12553	-1.0543	10	0.29301	T	0.29	-9.9118	11.4798	0.50318	0.0:0.8525:0.0:0.1475	.	1968	O75691	UTP20_HUMAN	I	1968	ENSP00000261637:L1968I	ENSP00000261637:L1968I	L	+	1	0	UTP20	100281596	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.517000	0.45529	0.825000	0.34637	0.655000	0.94253	CTC		0.403	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		8	46	1	0	0.000157383	1	0.00017284	8	46				
HLTF	6596	broad.mit.edu	37	3	148757856	148757856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148757856C>A	ENST00000310053.5	-	21	2657	c.2464G>T	c.(2464-2466)Gag>Tag	p.E822*	HLTF_ENST00000392912.2_Nonsense_Mutation_p.E822*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.E821*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.E822*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	822					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACTTTTTCTCACTGTCACGT	0.323																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2464-2466)Gag>Tag		helicase-like transcription factor							138.0	127.0	131.0					3																	148757856		2203	4296	6499	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148757856C>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2464G>T	3.37:g.148757856C>A	ENSP00000308944:p.Glu822*					HLTF_ENST00000494055.1_Nonsense_Mutation_p.E822*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.E821*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E822*	p.E822*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		21	2657	-			822					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.2464G>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	37	6.390412	0.97529	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-10.8091	12.3923	0.55366	0.0:0.9224:0.0:0.0776	.	.	.	.	X	821;822;822;822;290	.	ENSP00000308944:E822X	E	-	1	0	HLTF	150240546	0.192000	0.23301	0.655000	0.29622	0.222000	0.24845	2.248000	0.43160	2.597000	0.87782	0.650000	0.86243	GAG		0.323	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			10	35	1	0	2.17888e-05	1	2.45068e-05	10	35				
DYSF	8291	broad.mit.edu	37	2	71795213	71795213	+	Splice_Site	SNP	G	G	A	rs140108514	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71795213G>A	ENST00000258104.3	+	25	2920		c.e25+1		DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCTGAAACCGTGAGTACCTG	0.582																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CS031443	DYSF	S	rs140108514	c.e25+1		dysferlin		G	,,,,,,,,,,,,,	8,4398	14.3+/-33.2	0,8,2195	138.0	130.0	133.0		,,,,,,,,,,,,,	4.9	1.0	2	dbSNP_134	133	0,8600		0,0,4300	yes	splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5,splice-5	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,,,,,,,,,,,,,	,,,,,,,,,,,,,	71795213	8,12998	2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795213G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2643+1G>A	2.37:g.71795213G>A						DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site		NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			25	2920	+								A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37		CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589397	0.86851	0.001816	0.0	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.669	0.77258	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYSF	71648721	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	9.869000	0.99810	2.288000	0.76882	0.448000	0.29417	.		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Intron	5	76	0	0	0	1	0	5	76				
BAIAP2	10458	broad.mit.edu	37	17	79080582	79080582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79080582C>A	ENST00000321300.6	+	12	1468	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	BAIAP2_ENST00000321280.7_Missense_Mutation_p.L459M|BAIAP2_ENST00000416299.2_Missense_Mutation_p.L322M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L459M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L492M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L381M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L459M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L459M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	459					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGCAACCTCCTGGACAAGGA	0.692																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1375-1377)Ctg>Atg		BAI1-associated protein 2							66.0	64.0	65.0					17																	79080582		2202	4299	6501	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79080582C>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1375C>A	17.37:g.79080582C>A	ENSP00000316338:p.Leu459Met					BAIAP2_ENST00000416299.2_Missense_Mutation_p.L322M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L459M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L459M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L381M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L459M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L459M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L492M	p.L459M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		12	1468	+	all_neural(118;0.101)		459					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1375C>A	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300783	0.40694	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.36520	1.66;1.69;1.26;1.26;1.74;1.25	4.69	2.69	0.31865	.	0.264454	0.31624	N	0.007340	T	0.47710	0.1460	L	0.54323	1.7	0.45747	D	0.998647	D;D;D;P;D;D;P;P;P	0.65815	0.995;0.987;0.993;0.93;0.959;0.966;0.901;0.81;0.901	P;D;P;P;P;P;P;P;P	0.63793	0.888;0.918;0.878;0.723;0.82;0.831;0.724;0.554;0.724	T	0.39800	-0.9596	10	0.46703	T	0.11	-41.1977	9.2106	0.37316	0.0:0.8179:0.0:0.1821	.	322;381;460;459;459;459;459;460;459	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	M	459;459;459;459;381;322	ENSP00000316338:L459M;ENSP00000401022:L459M;ENSP00000413069:L459M;ENSP00000315685:L459M;ENSP00000376211:L381M;ENSP00000391837:L322M	ENSP00000315685:L459M	L	+	1	2	BAIAP2	76695177	0.998000	0.40836	1.000000	0.80357	0.195000	0.23768	2.251000	0.43187	0.990000	0.38787	0.298000	0.19748	CTG		0.692	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			8	26	1	0	1.76689e-08	1	2.11513e-08	8	26				
OR2G2	81470	broad.mit.edu	37	1	247751882	247751882	+	Missense_Mutation	SNP	G	G	A	rs200433328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751882G>A	ENST00000320065.1	+	1	221	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R74H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTCCTGTACCGCTGCTTCACC	0.473													g|||	1	0.000199681	0.0	0.0	5008	,	,		23049	0.0		0.001	False		,,,				2504	0.0					ENST00000320065.1																			1	Substitution - Missense(1)	p.R74H(1)	lung(1)	endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(220-222)cGc>cAc		olfactory receptor, family 2, subfamily G, member 2							205.0	176.0	186.0					1																	247751882		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751882G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.221G>A	1.37:g.247751882G>A	ENSP00000326349:p.Arg74His					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R74H	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	221	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		74					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.221G>A	CCDS31092.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	8.972	0.973079	0.18736	.	.	ENSG00000177489	ENST00000320065	T	0.01335	5.0	3.55	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.284446	0.18283	N	0.145949	T	0.00784	0.0026	N	0.14661	0.345	0.09310	N	1	P	0.36354	0.549	B	0.16289	0.015	T	0.52873	-0.8517	10	0.72032	D	0.01	.	5.4027	0.16305	0.1734:0.0:0.1829:0.6437	.	74	Q8NGZ5	OR2G2_HUMAN	H	74	ENSP00000326349:R74H	ENSP00000326349:R74H	R	+	2	0	OR2G2	245818505	0.004000	0.15560	0.939000	0.37840	0.386000	0.30323	1.526000	0.35964	0.101000	0.17610	-1.906000	0.00525	CGC		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			48	105	0	0	0	1	0	48	105				
FLCN	201163	broad.mit.edu	37	17	17119724	17119724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17119724C>T	ENST00000285071.4	-	11	1724	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	424					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGATCTGCACGTGCGGGCTG	0.672									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1270-1272)Gtg>Atg		folliculin							87.0	70.0	76.0					17																	17119724		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17119724C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1270G>A	17.37:g.17119724C>T	ENSP00000285071:p.Val424Met					RP11-45M22.4_ENST00000427497.3_3'UTR	p.V424M	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			11	1724	-			424					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.1270G>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158653	0.78226	.	.	ENSG00000154803	ENST00000285071	D	0.93426	-3.22	5.9	4.94	0.65067	.	0.052137	0.85682	D	0.000000	D	0.91236	0.7238	L	0.46157	1.445	0.80722	D	1	D	0.63046	0.992	P	0.45276	0.475	D	0.90082	0.4171	10	0.34782	T	0.22	-37.5122	15.0282	0.71684	0.0:0.9321:0.0:0.0679	.	424	Q8NFG4	FLCN_HUMAN	M	424	ENSP00000285071:V424M	ENSP00000285071:V424M	V	-	1	0	FLCN	17060449	1.000000	0.71417	0.897000	0.35233	0.903000	0.53119	7.147000	0.77382	1.521000	0.48983	0.651000	0.88453	GTG		0.672	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		8	6	0	0	0	1	0	8	6				
SRP72	6731	broad.mit.edu	37	4	57344544	57344544	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57344544G>T	ENST00000342756.5	+	7	1363		c.e7-1		SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTTTCTCTTAGGATGGGACTG	0.413																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.e7-1		signal recognition particle 72kDa							48.0	48.0	48.0					4																	57344544		2203	4300	6503	SO:0001630	splice_region_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57344544G>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.643-1G>T	4.37:g.57344544G>T						SRP72_ENST00000510663.1_Intron		NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			7	1363	+	Glioma(25;0.08)|all_neural(26;0.101)							G5E9Z8|Q7Z3C0	Splice_Site	SNP	ENST00000342756.5	37		CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125528	0.77436	.	.	ENSG00000174780	ENST00000342756;ENST00000505314	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6125	0.84892	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRP72	57039301	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.830000	0.99415	2.502000	0.84385	0.650000	0.86243	.		0.413	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		Intron	6	57	1	0	0.0215528	1	0.0221649	6	57				
MSLNL	401827	broad.mit.edu	37	16	830489	830489	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:830489C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.R171H			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R171H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552																																						ENST00000293892.3																			1	Substitution - Missense(1)	p.R171H(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(511-513)cGc>cAc		mesothelin-like							254.0	224.0	234.0					16																	830489		2177	4261	6438	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830489C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-327G>A	16.37:g.830489C>T						MSLNL_ENST00000442466.1_Intron	p.R171H			Q96KJ4	MSLNL_HUMAN			3	511	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.512G>A		.	.	.	.	.	.	.	.	.	.	C	0.107	-1.144414	0.01728	.	.	ENSG00000162006	ENST00000293892	T	0.18960	2.18	1.02	-2.05	0.07321	.	.	.	.	.	T	0.11665	0.0284	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31251	-0.9950	5	.	.	.	.	3.0047	0.06025	0.0:0.3578:0.266:0.3762	.	.	.	.	H	171	ENSP00000293892:R171H	.	R	-	2	0	MSLNL	770490	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.827000	0.01704	-1.264000	0.02452	-0.507000	0.04495	CGC		0.552	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		61	60	0	0	0	1	0	61	60				
SLC4A4	8671	broad.mit.edu	37	4	72338701	72338701	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338701G>A	ENST00000264485.5	+	14	2020				SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000512686.1_Silent_p.T595T|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGGGCATTACGCTTTGTGTTT	0.458																																						ENST00000512686.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1783-1785)acG>acA		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							93.0	95.0	95.0					4																	72338701		2202	4298	6500	SO:0001627	intron_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338701G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+14G>A	4.37:g.72338701G>A						SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR	p.T595T			Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1981	+			0					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1785G>A	CCDS43236.1																																																																																				0.458	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		26	58	0	0	0	1	0	26	58				
TNIP3	79931	broad.mit.edu	37	4	122068271	122068271	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122068271T>C	ENST00000509841.1	-	10	977	c.899A>G	c.(898-900)cAa>cGa	p.Q300R	TNIP3_ENST00000507879.1_Missense_Mutation_p.Q293R|TNIP3_ENST00000057513.3_Missense_Mutation_p.Q223R|TNIP3_ENST00000454328.1_Missense_Mutation_p.Q223R|TNIP3_ENST00000511909.1_5'UTR	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCTTTCTCTTGATTAAGTCT	0.383																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(667-669)cAa>cGa		TNFAIP3 interacting protein 3							222.0	215.0	217.0					4																	122068271		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122068271T>C	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.899A>G	4.37:g.122068271T>C	ENSP00000426613:p.Gln300Arg					TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.Q223R|TNIP3_ENST00000507879.1_Missense_Mutation_p.Q293R|TNIP3_ENST00000509841.1_Missense_Mutation_p.Q300R	p.Q223R			Q96KP6	TNIP3_HUMAN			9	895	-			223						Missense_Mutation	SNP	ENST00000509841.1	37	c.668A>G	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273958	0.59649	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.4	2.97	0.34412	.	0.386990	0.22920	N	0.054034	D	0.88415	0.6430	L	0.60455	1.87	0.23056	N	0.998366	B;P	0.43352	0.366;0.804	B;B	0.40134	0.083;0.32	T	0.81376	-0.0961	10	0.87932	D	0	-7.7201	6.269	0.20943	0.0:0.1428:0.1342:0.7229	.	293;223	B4DVF5;Q96KP6	.;TNIP3_HUMAN	R	223;223;293;300	ENSP00000057513:Q223R;ENSP00000411817:Q223R;ENSP00000427106:Q293R;ENSP00000426613:Q300R	ENSP00000057513:Q223R	Q	-	2	0	TNIP3	122287721	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	1.098000	0.31000	0.369000	0.24510	0.460000	0.39030	CAA		0.383	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		12	129	0	0	0	1	0	12	129				
FAM120A	23196	broad.mit.edu	37	9	96305688	96305688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96305688C>T	ENST00000277165.6	+	11	2288	c.2094C>T	c.(2092-2094)gaC>gaT	p.D698D	FAM120A_ENST00000333936.5_Silent_p.D726D|FAM120A_ENST00000340893.4_Silent_p.D698D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	698						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGTCGGACACCCCAGCCA	0.632																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2092-2094)gaC>gaT		family with sequence similarity 120A							109.0	87.0	94.0					9																	96305688		2203	4300	6503	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96305688C>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2094C>T	9.37:g.96305688C>T						FAM120A_ENST00000340893.4_Silent_p.D698D|FAM120A_ENST00000333936.5_Silent_p.D726D	p.D698D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			11	2288	+			698					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.2094C>T	CCDS6706.1																																																																																				0.632	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		20	42	0	0	0	1	0	20	42				
MXRA5	25878	broad.mit.edu	37	X	3241892	3241892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3241892T>C	ENST00000217939.6	-	5	1988	c.1834A>G	c.(1834-1836)Att>Gtt	p.I612V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	612	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGGAAGAATCCAGCTAAGG	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1834-1836)Att>Gtt		matrix-remodelling associated 5							85.0	74.0	77.0					X																	3241892		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241892T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1834A>G	X.37:g.3241892T>C	ENSP00000217939:p.Ile612Val						p.I612V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1988	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	612			Ig-like C2-type 2.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1834A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	6.693	0.496448	0.12762	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.01484	4.84	3.95	-4.82	0.03171	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.643517	0.12506	N	0.462869	T	0.01387	0.0045	L	0.37800	1.135	0.24176	N	0.99561	B	0.16603	0.018	B	0.20184	0.028	T	0.46775	-0.9167	10	0.16896	T	0.51	.	6.8069	0.23782	0.0:0.3436:0.1289:0.5275	.	612	Q9NR99	MXRA5_HUMAN	V	612	ENSP00000217939:I612V	ENSP00000217939:I612V	I	-	1	0	MXRA5	3251892	1.000000	0.71417	0.135000	0.22099	0.327000	0.28475	1.818000	0.39012	-0.783000	0.04534	0.427000	0.28365	ATT		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	22	0	0	0	1	0	9	22				
BTN2A1	11120	broad.mit.edu	37	6	26463635	26463635	+	Silent	SNP	C	C	T	rs374138534		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26463635C>T	ENST00000312541.5	+	4	842	c.594C>T	c.(592-594)gaC>gaT	p.D198D	BTN2A1_ENST00000469185.1_Silent_p.D198D|BTN2A1_ENST00000541522.1_Silent_p.D137D|BTN2A1_ENST00000429381.1_Silent_p.D198D	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	198					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGATGCAGACGGCCTCTTCA	0.557																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(592-594)gaC>gaT		butyrophilin, subfamily 2, member A1		C	,,,	1,4405	2.1+/-5.4	0,1,2202	126.0	111.0	116.0		411,594,594,594	-3.8	0.2	6		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BTN2A1	NM_001197233.1,NM_001197234.1,NM_007049.3,NM_078476.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	137/467,198/331,198/528,198/335	26463635	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26463635C>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.594C>T	6.37:g.26463635C>T						BTN2A1_ENST00000469185.1_Silent_p.D198D|BTN2A1_ENST00000312541.5_Silent_p.D198D|BTN2A1_ENST00000541522.1_Silent_p.D137D	p.D198D			Q7KYR7	BT2A1_HUMAN			4	806	+			198					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	ENST00000312541.5	37	c.594C>T	CCDS4613.1																																																																																				0.557	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		46	58	0	0	0	1	0	46	58				
TRPM1	4308	broad.mit.edu	37	15	31323354	31323354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31323354C>T	ENST00000256552.6	-	23	3106	c.2959G>A	c.(2959-2961)Gac>Aac	p.D987N	TRPM1_ENST00000542188.1_Missense_Mutation_p.D1004N|TRPM1_ENST00000397795.2_Missense_Mutation_p.D965N|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TACAGCATGTCGATCATCTGA	0.483																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3010-3012)Gac>Aac		transient receptor potential cation channel, subfamily M, member 1							76.0	73.0	74.0					15																	31323354		2096	4246	6342	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31323354C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2959G>A	15.37:g.31323354C>T	ENSP00000256552:p.Asp987Asn					RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.D987N|TRPM1_ENST00000397795.2_Missense_Mutation_p.D965N|RP11-348B17.1_ENST00000558755.1_RNA	p.D1004N	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	22	3323	-		all_lung(180;1.92e-11)	965						Missense_Mutation	SNP	ENST00000256552.6	37	c.3010G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510196	0.44660	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.68331	-0.32;-0.32;-0.32	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.35288	1.05	0.80722	D	1	P;P	0.43314	0.661;0.803	B;B	0.34038	0.119;0.174	T	0.57923	-0.7727	10	0.38643	T	0.18	-45.9225	20.33	0.98713	0.0:1.0:0.0:0.0	.	959;965	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	N	965;1004;987;965	ENSP00000380897:D965N;ENSP00000437849:D1004N;ENSP00000256552:D987N	ENSP00000256552:D987N	D	-	1	0	TRPM1	29110646	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.977000	0.63792	2.810000	0.96702	0.585000	0.79938	GAC		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		20	28	0	0	0	1	0	20	28				
LNPEP	4012	broad.mit.edu	37	5	96329619	96329619	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96329619T>C	ENST00000231368.5	+	6	2043	c.1351T>C	c.(1351-1353)Tca>Cca	p.S451P	LNPEP_ENST00000395770.3_Missense_Mutation_p.S437P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	451					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TAACACTTCTTCAATGGCGGA	0.468																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(1351-1353)Tca>Cca		leucyl/cystinyl aminopeptidase							136.0	135.0	136.0					5																	96329619		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96329619T>C	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1351T>C	5.37:g.96329619T>C	ENSP00000231368:p.Ser451Pro					LNPEP_ENST00000395770.3_Missense_Mutation_p.S437P	p.S451P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	6	2043	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	451					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.1351T>C	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.853898	0.71719	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.03094	4.05;4.05	4.89	4.89	0.63831	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	L	0.53561	1.675	0.54753	D	0.999981	P	0.41624	0.757	P	0.53760	0.734	T	0.00742	-1.1585	10	0.72032	D	0.01	.	14.4783	0.67562	0.0:0.0:0.0:1.0	.	451	Q9UIQ6	LCAP_HUMAN	P	451;437	ENSP00000231368:S451P;ENSP00000379117:S437P	ENSP00000231368:S451P	S	+	1	0	LNPEP	96355375	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.987000	0.88182	1.952000	0.56665	0.533000	0.62120	TCA		0.468	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		7	96	0	0	0	1	0	7	96				
FLT1	2321	broad.mit.edu	37	13	28908200	28908200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28908200G>T	ENST00000282397.4	-	18	2806	c.2555C>A	c.(2554-2556)tCa>tAa	p.S852*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.S70*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	852	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCACGTAGGTGATTTCTTAAT	0.433																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2554-2556)tCa>tAa		fms-related tyrosine kinase 1	Sunitinib(DB01268)						196.0	175.0	182.0					13																	28908200		2203	4300	6503	SO:0001587	stop_gained	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28908200G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2555C>A	13.37:g.28908200G>T	ENSP00000282397:p.Ser852*					FLT1_ENST00000540678.1_Nonsense_Mutation_p.S70*	p.S852*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	18	2806	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	852			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP	ENST00000282397.4	37	c.2555C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	38	7.069077	0.98040	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	.	.	.	5.76	5.76	0.90799	.	0.239083	0.36101	N	0.002783	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4499	0.75265	0.0:0.1382:0.8618:0.0	.	.	.	.	X	852;70	.	ENSP00000282397:S852X	S	-	2	0	FLT1	27806200	1.000000	0.71417	0.882000	0.34594	0.835000	0.47333	4.039000	0.57325	2.710000	0.92621	0.655000	0.94253	TCA		0.433	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			77	99	1	0	9.35569e-46	1	1.2638e-45	77	99				
ACACB	32	broad.mit.edu	37	12	109614053	109614053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109614053G>A	ENST00000338432.7	+	9	1541	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	ACACB_ENST00000377854.5_Silent_p.P474P|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	474	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1420-1422)ccG>ccA		acetyl-CoA carboxylase beta	Biotin(DB00121)						183.0	188.0	186.0					12																	109614053		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109614053G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1422G>A	12.37:g.109614053G>A						ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000377854.5_Silent_p.P474P	p.P474P			O00763	ACACB_HUMAN			9	1541	+			474			ATP-grasp.|Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.1422G>A	CCDS31898.1																																																																																				0.478	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		98	137	0	0	0	1	0	98	137				
LGR4	55366	broad.mit.edu	37	11	27390141	27390141	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390141A>G	ENST00000379214.4	-	18	2572	c.2129T>C	c.(2128-2130)tTa>tCa	p.L710S	LGR4_ENST00000389858.4_Missense_Mutation_p.L686S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	710					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAATAGCACTAACGTTACAGT	0.398																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2128-2130)tTa>tCa		leucine-rich repeat containing G protein-coupled receptor 4							104.0	101.0	102.0					11																	27390141		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390141A>G	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2129T>C	11.37:g.27390141A>G	ENSP00000368516:p.Leu710Ser					LGR4_ENST00000389858.4_Missense_Mutation_p.L686S	p.L710S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2572	-			710					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2129T>C	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547806	0.65311	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.71579	-0.58;-0.58	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.148810	0.46145	D	0.000305	D	0.82893	0.5136	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84869	0.0824	10	0.87932	D	0	.	15.8474	0.78903	1.0:0.0:0.0:0.0	.	686;710	G5E9B3;Q9BXB1	.;LGR4_HUMAN	S	710;686	ENSP00000368516:L710S;ENSP00000374508:L686S	ENSP00000368516:L710S	L	-	2	0	LGR4	27346717	1.000000	0.71417	0.961000	0.40146	0.754000	0.42855	9.300000	0.96151	2.147000	0.66899	0.454000	0.30748	TTA		0.398	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		12	85	0	0	0	1	0	12	85				
BBS10	79738	broad.mit.edu	37	12	76740150	76740150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:76740150G>A	ENST00000393262.3	-	2	1698	c.1615C>T	c.(1615-1617)Cca>Tca	p.P539S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	539			P -> L (in dbSNP:rs35676114). {ECO:0000269|PubMed:20120035}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTGAGTAATGGTTCATAATAA	0.358									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(1615-1617)Cca>Tca		Bardet-Biedl syndrome 10							134.0	129.0	130.0					12																	76740150		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740150G>A	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1615C>T	12.37:g.76740150G>A	ENSP00000376946:p.Pro539Ser						p.P539S	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	1698	-			539		P -> L (in dbSNP:rs35676114).			Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.1615C>T	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.279758	0.00254	.	.	ENSG00000179941	ENST00000393262	D	0.84660	-1.88	4.95	1.05	0.20165	.	0.883658	0.09546	N	0.787526	T	0.79185	0.4403	L	0.54323	1.7	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.65890	-0.6058	10	0.52906	T	0.07	-0.7605	4.384	0.11307	0.2924:0.3129:0.3947:0.0	.	539	Q8TAM1	BBS10_HUMAN	S	539	ENSP00000376946:P539S	ENSP00000376946:P539S	P	-	1	0	BBS10	75264281	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.024000	0.13555	0.094000	0.17404	-0.150000	0.13652	CCA		0.358	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		34	81	0	0	0	1	0	34	81				
AKT1	207	broad.mit.edu	37	14	105241307	105241307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105241307C>T	ENST00000554581.1	-	6	2081	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	AKT1_ENST00000349310.3_Missense_Mutation_p.V201I|AKT1_ENST00000554848.1_Missense_Mutation_p.V201I|AKT1_ENST00000555528.1_Missense_Mutation_p.V201I|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.V201I|AKT1_ENST00000544168.1_Missense_Mutation_p.V139I|AKT1_ENST00000407796.2_Missense_Mutation_p.V201I|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000555458.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTCTGCAGGACGCGGTTCTCG	0.677		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(601-603)Gtc>Atc		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						89.0	82.0	84.0					14																	105241307		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105241307C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.601G>A	14.37:g.105241307C>T	ENSP00000451828:p.Val201Ile					AKT1_ENST00000544168.1_Missense_Mutation_p.V139I|AKT1_ENST00000554848.1_Missense_Mutation_p.V201I|AKT1_ENST00000349310.3_Missense_Mutation_p.V201I|AKT1_ENST00000402615.2_Missense_Mutation_p.V201I|AKT1_ENST00000407796.2_Missense_Mutation_p.V201I|AKT1_ENST00000555528.1_Missense_Mutation_p.V201I	p.V201I			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	6	2081	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	201			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.601G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432433	0.43224	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	4.45	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.51058	0.1652	N	0.01824	-0.7	0.80722	D	1	B	0.33120	0.398	P	0.48552	0.581	T	0.63010	-0.6732	10	0.42905	T	0.14	.	17.0543	0.86529	0.0:1.0:0.0:0.0	.	201	P31749	AKT1_HUMAN	I	201;201;201;201;201;139;201	ENSP00000451828:V201I;ENSP00000384293:V201I;ENSP00000270202:V201I;ENSP00000385326:V201I;ENSP00000450688:V201I;ENSP00000443897:V139I;ENSP00000451166:V201I	ENSP00000270202:V201I	V	-	1	0	AKT1	104312352	1.000000	0.71417	0.126000	0.21872	0.104000	0.19210	5.882000	0.69714	2.011000	0.59026	0.491000	0.48974	GTC		0.677	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		15	33	0	0	0	1	0	15	33				
PTPRN	5798	broad.mit.edu	37	2	220164440	220164440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220164440C>T	ENST00000295718.2	-	10	1745	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	PTPRN_ENST00000423636.2_Missense_Mutation_p.G412D|PTPRN_ENST00000409251.3_Intron|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	502					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGAAGCTGCCTGAGGACAT	0.597																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1504-1506)gGc>gAc		protein tyrosine phosphatase, receptor type, N							89.0	83.0	85.0					2																	220164440		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164440C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1505G>A	2.37:g.220164440C>T	ENSP00000295718:p.Gly502Asp					AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron|PTPRN_ENST00000423636.2_Missense_Mutation_p.G412D	p.G502D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	10	1745	-		Renal(207;0.0474)	502					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1505G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592816	0.46214	.	.	ENSG00000054356	ENST00000295718;ENST00000537666	T;T	0.03635	3.86;3.86	5.49	3.6	0.41247	.	0.167465	0.39274	N	0.001402	T	0.05960	0.0155	L	0.34521	1.04	0.45528	D	0.998486	B	0.26318	0.146	B	0.36378	0.223	T	0.33497	-0.9866	10	0.62326	D	0.03	.	16.0925	0.81101	0.0:0.4275:0.5725:0.0	.	502	Q16849	PTPRN_HUMAN	D	502;412	ENSP00000295718:G502D;ENSP00000444244:G412D	ENSP00000295718:G502D	G	-	2	0	PTPRN	219872684	0.226000	0.23696	0.966000	0.40874	0.923000	0.55619	0.788000	0.26872	0.607000	0.29982	0.561000	0.74099	GGC		0.597	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			29	51	0	0	0	1	0	29	51				
ZNF132	7691	broad.mit.edu	37	19	58945037	58945037	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58945037C>A	ENST00000254166.3	-	3	2174	c.1774G>T	c.(1774-1776)Gtt>Ttt	p.V592F	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCAGTATGAACTTTCTGATGC	0.393																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1774-1776)Gtt>Ttt		zinc finger protein 132							93.0	96.0	95.0					19																	58945037		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945037C>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1774G>T	19.37:g.58945037C>A	ENSP00000254166:p.Val592Phe						p.V592F	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	2174	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	592					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1774G>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706045	0.48412	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.00768	5.72	3.69	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	L	0.58810	1.83	0.09310	N	1	D	0.59357	0.985	P	0.60949	0.881	T	0.48068	-0.9067	9	0.72032	D	0.01	.	6.0705	0.19887	0.0:0.5735:0.0:0.4264	.	592	P52740	ZN132_HUMAN	F	592;307	ENSP00000254166:V592F	ENSP00000254166:V592F	V	-	1	0	ZNF132	63636849	0.000000	0.05858	0.889000	0.34880	0.980000	0.70556	-3.340000	0.00506	0.644000	0.30656	0.655000	0.94253	GTT		0.393	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		23	88	1	0	4.4004e-07	1	5.144e-07	23	88				
CELF1	10658	broad.mit.edu	37	11	47493832	47493832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47493832G>A	ENST00000358597.3	-	12	1410	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	CELF1_ENST00000361904.3_Missense_Mutation_p.R468W|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.R499W|CELF1_ENST00000532048.1_Missense_Mutation_p.R497W|CELF1_ENST00000395290.2_Missense_Mutation_p.R470W|CELF1_ENST00000395292.2_Missense_Mutation_p.R468W|CELF1_ENST00000310513.5_Missense_Mutation_p.R467W			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	471	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						ACTTTAAGCCGCTTCATGCCA	0.517																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(1408-1410)Cgg>Tgg		CUGBP, Elav-like family member 1							252.0	204.0	220.0					11																	47493832		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47493832G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1411C>T	11.37:g.47493832G>A	ENSP00000351409:p.Arg471Trp					CELF1_ENST00000310513.5_Missense_Mutation_p.R467W|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.R499W|CELF1_ENST00000532048.1_Missense_Mutation_p.R497W|CELF1_ENST00000358597.3_Missense_Mutation_p.R471W|CELF1_ENST00000361904.3_Missense_Mutation_p.R468W|CELF1_ENST00000395292.2_Missense_Mutation_p.R468W	p.R470W	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			12	1417	-			471			RRM 3.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1408C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895418	0.72639	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.83	4.9	0.64082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.057968	0.64402	D	0.000002	T	0.45577	0.1349	M	0.79805	2.47	0.80722	D	1	B;B;P;D;B;P	0.89917	0.005;0.005;0.783;1.0;0.005;0.906	B;B;P;D;B;P	0.91635	0.003;0.003;0.496;0.999;0.003;0.583	T	0.52396	-0.8581	10	0.87932	D	0	-17.0024	15.8807	0.79201	0.0:0.0:0.8596:0.1404	.	470;499;497;467;468;471	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	W	470;471;468;467;468;499;497	ENSP00000378705:R470W;ENSP00000351409:R471W;ENSP00000378706:R468W;ENSP00000308386:R467W;ENSP00000354639:R468W;ENSP00000436864:R499W;ENSP00000435926:R497W	ENSP00000308386:R467W	R	-	1	2	CELF1	47450408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.594000	0.54008	1.406000	0.46857	0.655000	0.94253	CGG		0.517	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		122	112	0	0	0	1	0	122	112				
MAGI1	9223	broad.mit.edu	37	3	65425626	65425626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65425626G>T	ENST00000497477.2	-	9	1197	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	MAGI1_ENST00000330909.8_Missense_Mutation_p.L400I|MAGI1_ENST00000483466.1_Missense_Mutation_p.L400I|MAGI1_ENST00000402939.2_Missense_Mutation_p.L400I|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	400					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgctgctCAAGCTGCTTCTTC	0.502											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1198-1200)Ctt>Att		membrane associated guanylate kinase, WW and PDZ domain containing 1							130.0	108.0	115.0					3																	65425626		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425626G>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1198C>A	3.37:g.65425626G>T	ENSP00000424369:p.Leu400Ile		OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.L400I|MAGI1_ENST00000402939.2_Missense_Mutation_p.L400I|MAGI1_ENST00000497477.2_Missense_Mutation_p.L400I	p.L400I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1197	-		Lung NSC(201;0.0016)	400					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.1198C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.37|15.37	2.814373|2.814373	0.50527|0.50527	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257;ENST00000479287|ENST00000460329	T;T;T;T;T;T;T|.	0.73681|.	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;2.68|.	5.86|5.86	0.947|0.947	0.19555|0.19555	.|.	0.305004|.	0.31290|.	N|.	0.007920|.	T|T	0.57095|0.57095	0.2030|0.2030	M|M	0.65498|0.65498	2.005|2.005	0.54753|0.54753	D|D	0.999985|0.999985	D;D;B;D;B|.	0.62365|.	0.982;0.991;0.002;0.982;0.02|.	P;P;B;P;B|.	0.56563|.	0.757;0.801;0.014;0.757;0.085|.	T|T	0.49341|0.49341	-0.8950|-0.8950	10|5	0.30854|.	T|.	0.27|.	2.0E-4|2.0E-4	4.0175|4.0175	0.09650|0.09650	0.1231:0.1126:0.5311:0.2331|0.1231:0.1126:0.5311:0.2331	.|.	400;400;400;400;400|.	Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	I|R	400;400;296;275;400;400;186;150|280	ENSP00000385450:L400I;ENSP00000331157:L400I;ENSP00000418177:L275I;ENSP00000420323:L400I;ENSP00000424369:L400I;ENSP00000420796:L186I;ENSP00000418044:L150I|.	ENSP00000331157:L400I|.	L|S	-|-	1|3	0|2	MAGI1|MAGI1	65400666|65400666	1.000000|1.000000	0.71417|0.71417	0.537000|0.537000	0.28052|0.28052	0.998000|0.998000	0.95712|0.95712	3.742000|3.742000	0.55097|0.55097	-0.105000|-0.105000	0.12132|0.12132	0.650000|0.650000	0.86243|0.86243	CTT|AGC		0.502	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		4	59	1	0	0.00024832	1	0.0002712	4	59				
CHRM5	1133	broad.mit.edu	37	15	34355585	34355585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355585C>T	ENST00000383263.5	+	3	1337	c.667C>T	c.(667-669)Cga>Tga	p.R223*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.R223*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	223					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AACAGAGAAGCGAACCAAGGA	0.527																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(667-669)Cga>Tga		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						165.0	171.0	169.0					15																	34355585		2201	4298	6499	SO:0001587	stop_gained	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355585C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.667C>T	15.37:g.34355585C>T	ENSP00000372750:p.Arg223*					CHRM5_ENST00000557872.1_Nonsense_Mutation_p.R223*	p.R223*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1337	+		all_lung(180;1.76e-08)	223					Q96RG7	Nonsense_Mutation	SNP	ENST00000383263.5	37	c.667C>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	40	8.511274	0.98843	.	.	ENSG00000184984	ENST00000383263	.	.	.	5.32	4.38	0.52667	.	0.064498	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5343	15.3655	0.74519	0.1404:0.8596:0.0:0.0	.	.	.	.	X	223	.	ENSP00000372750:R223X	R	+	1	2	CHRM5	32142877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.980000	0.49321	1.431000	0.47355	0.650000	0.86243	CGA		0.527	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			8	166	0	0	0	1	0	8	166				
BCL2L11	10018	broad.mit.edu	37	2	111907698	111907698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111907698G>A	ENST00000393256.3	+	3	745	c.472G>A	c.(472-474)Gag>Aag	p.E158K	BCL2L11_ENST00000357757.2_Missense_Mutation_p.E158K|BCL2L11_ENST00000308659.8_Missense_Mutation_p.E98K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.E68K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	158					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TATTGGAGACGAGTTTAACGC	0.453																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(472-474)Gag>Aag		BCL2-like 11 (apoptosis facilitator)							164.0	123.0	137.0					2																	111907698		2203	4300	6503	SO:0001583	missense	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	g.chr2:111907698G>A	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.472G>A	2.37:g.111907698G>A	ENSP00000376943:p.Glu158Lys					BCL2L11_ENST00000357757.2_Missense_Mutation_p.E158K|BCL2L11_ENST00000308659.8_Missense_Mutation_p.E98K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.E68K	p.E158K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN			3	745	+			158					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	ENST00000393256.3	37	c.472G>A	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244555	0.95272	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.89	5.89	0.94794	Bcl-x interacting (1);	0.000000	0.64402	D	0.000014	T	0.66446	0.2790	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.79784	0.988;0.993;0.98	T	0.68503	-0.5391	9	0.87932	D	0	-13.7568	15.7362	0.77846	0.0:0.0:1.0:0.0	.	68;158;98	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	K	98;158;68;158;25	.	ENSP00000309226:E98K	E	+	1	0	BCL2L11	111624169	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.870000	0.69620	2.791000	0.96007	0.591000	0.81541	GAG		0.453	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			3	32	0	0	0	1	0	3	32				
LOXL2	4017	broad.mit.edu	37	8	23177529	23177529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23177529G>A	ENST00000389131.3	-	8	1708	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	447	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACTCGGCCCTCGTAG	0.652																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1339-1341)Cga>Tga		lysyl oxidase-like 2							92.0	82.0	86.0					8																	23177529		2203	4300	6503	SO:0001587	stop_gained	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23177529G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1339C>T	8.37:g.23177529G>A	ENSP00000373783:p.Arg447*						p.R447*	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	8	1708	-		Prostate(55;0.0453)|Breast(100;0.143)	447			SRCR 4.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Nonsense_Mutation	SNP	ENST00000389131.3	37	c.1339C>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	43	9.824612	0.99273	.	.	ENSG00000134013	ENST00000389131	.	.	.	5.27	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2771	0.66187	0.0:0.0:0.8499:0.1501	.	.	.	.	X	447	.	ENSP00000373783:R447X	R	-	1	2	LOXL2	23233474	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.975000	0.56859	1.315000	0.45114	-0.188000	0.12872	CGA		0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			13	22	0	0	0	1	0	13	22				
PCDHA8	56140	broad.mit.edu	37	5	140222793	140222793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140222793C>T	ENST00000531613.1	+	1	1887	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G629G|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACGGGCGAGATCAGCA	0.652																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1885-1887)ggC>ggT									111.0	109.0	110.0					5																	140222793		2198	4269	6467	SO:0001819	synonymous_variant	0							g.chr5:140222793C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1887C>T	5.37:g.140222793C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G629G|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.G629G	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1887	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1887C>T	CCDS54919.1																																																																																				0.652	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		8	113	0	0	0	1	0	8	113				
ZFAT	57623	broad.mit.edu	37	8	135614391	135614391	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135614391G>A	ENST00000377838.3	-	6	1745	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	ZFAT_ENST00000429442.2_Missense_Mutation_p.A512V|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.A512V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A462V|ZFAT_ENST00000520727.1_Missense_Mutation_p.A512V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A512V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	524					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCCTGGAGGGCAAACTCCTC	0.622																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1534-1536)gCc>gTc		zinc finger and AT hook domain containing							19.0	20.0	20.0					8																	135614391		1897	4111	6008	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614391G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1571C>T	8.37:g.135614391G>A	ENSP00000367069:p.Ala524Val					ZFAT_ENST00000377838.3_Missense_Mutation_p.A524V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A512V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A512V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A462V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A512V	p.A512V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1834	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		524					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1535C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	1.540	-0.542085	0.04053	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.08807	3.11;3.05;3.06;3.05;3.05;3.05	6.04	2.49	0.30216	.	0.426470	0.21782	N	0.069189	T	0.02267	0.0070	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.44329	-0.9335	10	0.20519	T	0.43	-18.5669	4.3943	0.11355	0.4503:0.1811:0.3686:0.0	.	462;512;512;524	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	512;512;512;524;512;411;462;512	ENSP00000427879:A512V;ENSP00000427831:A512V;ENSP00000394501:A512V;ENSP00000367069:A524V;ENSP00000428483:A512V;ENSP00000429091:A462V	ENSP00000326997:A411V	A	-	2	0	ZFAT	135683573	0.000000	0.05858	0.124000	0.21820	0.193000	0.23685	0.033000	0.13754	0.537000	0.28751	0.563000	0.77884	GCC		0.622	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		6	10	0	0	0	1	0	6	10				
MTFR2	113115	broad.mit.edu	37	6	136565942	136565942	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136565942T>C	ENST00000420702.1	-	3	518	c.129A>G	c.(127-129)aaA>aaG	p.K43K	MTFR2_ENST00000445767.2_5'Flank|MTFR2_ENST00000451457.2_Silent_p.K43K	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	43					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											GTGGAAGCATTTTCCCAATAA	0.323																																						ENST00000420702.1																			0											c.(127-129)aaA>aaG		mitochondrial fission regulator 2							126.0	127.0	127.0					6																	136565942		2203	4300	6503	SO:0001819	synonymous_variant	113115							g.chr6:136565942T>C	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.129A>G	6.37:g.136565942T>C						MTFR2_ENST00000451457.2_Silent_p.K43K	p.K43K	NM_001099286.1	NP_001092756.1					3	518	-								A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Silent	SNP	ENST00000420702.1	37	c.129A>G	CCDS5176.1																																																																																				0.323	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		3	75	0	0	0	1	0	3	75				
DUSP9	1852	broad.mit.edu	37	X	152915526	152915526	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152915526G>T	ENST00000342782.3	+	4	1186	c.921G>T	c.(919-921)caG>caT	p.Q307H	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q307H			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	307	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCATGCAGAAGCTCCACC	0.562																																						ENST00000342782.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16						c.(919-921)caG>caT		dual specificity phosphatase 9							282.0	242.0	256.0					X																	152915526		2203	4300	6503	SO:0001583	missense	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915526G>T	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.921G>T	X.37:g.152915526G>T	ENSP00000345853:p.Gln307His					DUSP9_ENST00000370167.4_Missense_Mutation_p.Q307H	p.Q307H			Q99956	DUS9_HUMAN			4	1186	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		307			Tyrosine-protein phosphatase.		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	c.921G>T	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.5|20.5	4.006817|4.006817	0.74932|0.74932	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000370167;ENST00000342782|ENST00000433144	D;D|.	0.85955|.	-2.05;-2.05|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.52370|0.52370	0.1730|0.1730	N|N	0.21373|0.21373	0.66|0.66	0.80722|0.80722	D|D	1|1	P|.	0.41041|.	0.736|.	B|.	0.42319|.	0.383|.	T|T	0.48906|0.48906	-0.8993|-0.8993	10|5	0.48119|.	T|.	0.1|.	.|.	15.8188|15.8188	0.78624|0.78624	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307|.	Q99956|.	DUS9_HUMAN|.	H|I	307|278	ENSP00000359186:Q307H;ENSP00000345853:Q307H|.	ENSP00000345853:Q307H|.	Q|R	+|+	3|2	2|0	DUSP9|DUSP9	152568720|152568720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.700000|2.700000	0.47085|0.47085	2.248000|2.248000	0.74166|0.74166	0.529000|0.529000	0.55759|0.55759	CAG|AGA		0.562	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		14	303	1	0	4.3838e-07	1	5.12524e-07	14	303				
TMC5	79838	broad.mit.edu	37	16	19501749	19501749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19501749G>A	ENST00000396229.2	+	18	3355	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	TMC5_ENST00000381414.4_Intron|TMC5_ENST00000561503.1_Missense_Mutation_p.R510Q|TMC5_ENST00000564959.1_Missense_Mutation_p.R552Q|TMC5_ENST00000541464.1_Missense_Mutation_p.R817Q|TMC5_ENST00000219821.5_Missense_Mutation_p.R623Q|TMC5_ENST00000542583.2_Missense_Mutation_p.R869Q|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	869					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCCTTTTCGAGGTCTGCCT	0.478																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2605-2607)cGa>cAa		transmembrane channel-like 5							222.0	190.0	201.0					16																	19501749		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19501749G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2606G>A	16.37:g.19501749G>A	ENSP00000379531:p.Arg869Gln					TMC5_ENST00000564959.1_Missense_Mutation_p.R552Q|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Missense_Mutation_p.R817Q|TMC5_ENST00000542583.2_Missense_Mutation_p.R869Q|TMC5_ENST00000561503.1_Missense_Mutation_p.R510Q|TMC5_ENST00000219821.5_Missense_Mutation_p.R623Q	p.R869Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			18	3355	+			869					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2606G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.713947	0.48622	.	.	ENSG00000103534	ENST00000541464;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.72505	-0.42;-0.54;-0.54;-0.66	5.41	3.24	0.37175	.	.	.	.	.	T	0.54822	0.1882	L	0.36672	1.1	0.24129	N	0.995777	B;P;P;B;B	0.37352	0.437;0.461;0.591;0.202;0.202	B;B;B;B;B	0.25614	0.034;0.06;0.062;0.015;0.015	T	0.42515	-0.9447	9	0.37606	T	0.19	-4.7793	10.9507	0.47327	0.2063:0.0:0.7937:0.0	.	817;552;623;623;869	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8	.;.;.;.;TMC5_HUMAN	Q	817;869;869;623;552	ENSP00000441227:R817Q;ENSP00000379531:R869Q;ENSP00000446274:R869Q;ENSP00000219821:R623Q	ENSP00000219821:R623Q	R	+	2	0	TMC5	19409250	0.992000	0.36948	0.941000	0.38009	0.897000	0.52465	1.091000	0.30915	1.284000	0.44531	0.561000	0.74099	CGA		0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		7	149	0	0	0	1	0	7	149				
HMCN1	83872	broad.mit.edu	37	1	185959455	185959455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185959455C>A	ENST00000271588.4	+	22	3486	c.3257C>A	c.(3256-3258)cCt>cAt	p.P1086H	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1086H|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1086	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATAAGCCTGTTGAGATC	0.453																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3256-3258)cCt>cAt		hemicentin 1							266.0	267.0	266.0					1																	185959455		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959455C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3257C>A	1.37:g.185959455C>A	ENSP00000271588:p.Pro1086His					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.P1086H	p.P1086H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			22	3486	+			1086			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3257C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198354	0.79015	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80480	-1.38;-1.38	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.108239	0.64402	D	0.000004	D	0.91891	0.7433	M	0.94101	3.495	0.47862	D	0.999538	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	D	0.92381	0.5913	10	0.45353	T	0.12	.	14.832	0.70156	0.1438:0.8562:0.0:0.0	.	470;1086	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	H	1086	ENSP00000271588:P1086H;ENSP00000356462:P1086H	ENSP00000271588:P1086H	P	+	2	0	HMCN1	184226078	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	3.325000	0.52030	2.733000	0.93635	0.655000	0.94253	CCT		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		122	222	1	0	2.17066e-49	1	2.93498e-49	122	222				
CTNNA3	29119	broad.mit.edu	37	10	68139106	68139106	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:68139106G>A	ENST00000433211.2	-	12	1710	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	CTNNA3_ENST00000373744.4_Silent_p.S512S	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1534-1536)agC>agT		catenin (cadherin-associated protein), alpha 3							99.0	101.0	100.0					10																	68139106		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68139106G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1536C>T	10.37:g.68139106G>A						CTNNA3_ENST00000373744.4_Silent_p.S512S	p.S512S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			12	1710	-			512						Silent	SNP	ENST00000433211.2	37	c.1536C>T	CCDS7269.1																																																																																				0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		4	40	0	0	0	1	0	4	40				
RASA1	5921	broad.mit.edu	37	5	86627205	86627205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86627205C>T	ENST00000274376.6	+	2	1144	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	RASA1_ENST00000506290.1_Missense_Mutation_p.R28C|RASA1_ENST00000456692.2_Missense_Mutation_p.R17C|RASA1_ENST00000512763.1_Missense_Mutation_p.R27C	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	194	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R17C(1)|p.R194C(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCAGAAGAACGCCTCAGGCA	0.428																																						ENST00000456692.2																			2	Substitution - Missense(2)	p.R17C(1)|p.R194C(1)	endometrium(2)	NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(49-51)Cgc>Tgc		RAS p21 protein activator (GTPase activating protein) 1							139.0	133.0	135.0					5																	86627205		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86627205C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.580C>T	5.37:g.86627205C>T	ENSP00000274376:p.Arg194Cys					RASA1_ENST00000274376.6_Missense_Mutation_p.R194C|RASA1_ENST00000512763.1_Missense_Mutation_p.R27C|RASA1_ENST00000506290.1_Missense_Mutation_p.R28C	p.R17C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	2	164	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	194			Poly-Gly.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.49C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859610	0.91433	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.21	5.21	0.72293	SH2 motif (5);	0.055734	0.64402	D	0.000001	T	0.78817	0.4343	M	0.69185	2.1	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	1.0;1.0;0.995;1.0;1.0;1.0	T	0.81075	-0.1097	10	0.87932	D	0	.	18.7518	0.91819	0.0:1.0:0.0:0.0	.	28;27;227;28;17;194	E9PGC0;B4DTL2;Q59GK3;B4DTX4;P20936-2;P20936	.;.;.;.;.;RASA1_HUMAN	C	194;227;17;27;28	ENSP00000274376:R194C;ENSP00000411221:R17C;ENSP00000422008:R27C;ENSP00000420905:R28C	ENSP00000274376:R194C	R	+	1	0	RASA1	86662961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.562000	0.67346	2.422000	0.82143	0.585000	0.79938	CGC		0.428	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		27	57	0	0	0	1	0	27	57				
MAPK8IP3	23162	broad.mit.edu	37	16	1797132	1797132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1797132G>A	ENST00000250894.4	+	6	1004	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A283T|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	283					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTGCCCTCGGCCGCCGTCAC	0.667																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(847-849)Gcc>Acc		mitogen-activated protein kinase 8 interacting protein 3							51.0	72.0	65.0					16																	1797132		2127	4251	6378	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1797132G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.847G>A	16.37:g.1797132G>A	ENSP00000250894:p.Ala283Thr					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A283T|MAPK8IP3_ENST00000568271.1_3'UTR	p.A283T	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			6	1004	+			283					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.847G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760191	0.49468	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.31247	1.5;1.5	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	L	0.51422	1.61	0.80722	D	1	P;D;D	0.69078	0.786;0.986;0.997	B;P;D	0.81914	0.277;0.905;0.995	T	0.22277	-1.0221	10	0.14252	T	0.57	-19.4484	18.8441	0.92198	0.0:0.0:1.0:0.0	.	284;283;283	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	T	283	ENSP00000250894:A283T;ENSP00000348290:A283T	ENSP00000250894:A283T	A	+	1	0	MAPK8IP3	1737133	1.000000	0.71417	0.612000	0.29024	0.652000	0.38707	9.489000	0.97949	2.560000	0.86352	0.549000	0.68633	GCC		0.667	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		24	36	0	0	0	1	0	24	36				
SLC37A2	219855	broad.mit.edu	37	11	124947386	124947386	+	Silent	SNP	C	C	T	rs146902663		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124947386C>T	ENST00000403796.2	+	4	577	c.276C>T	c.(274-276)aaC>aaT	p.N92N	SLC37A2_ENST00000308074.4_Silent_p.N92N|SLC37A2_ENST00000407458.1_Silent_p.N92N|SLC37A2_ENST00000298280.5_Silent_p.N92N	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	92					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCGTGGACAACGCCTTCCTCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		22623	0.0		0.001	False		,,,				2504	0.0				Melanoma(11;373 620 21213 26083 47768)	ENST00000403796.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27						c.(274-276)aaC>aaT		solute carrier family 37 (glucose-6-phosphate transporter), member 2							107.0	99.0	102.0					11																	124947386		2201	4299	6500	SO:0001819	synonymous_variant	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124947386C>T	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.276C>T	11.37:g.124947386C>T						SLC37A2_ENST00000407458.1_Silent_p.N92N|SLC37A2_ENST00000298280.5_Silent_p.N92N|SLC37A2_ENST00000308074.4_Silent_p.N92N	p.N92N	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	4	577	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	92					A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	c.276C>T	CCDS44757.1																																																																																				0.537	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		20	25	0	0	0	1	0	20	25				
RFC4	5984	broad.mit.edu	37	3	186522387	186522387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522387G>A	ENST00000392481.2	-	2	397	c.116C>T	c.(115-117)cCc>cTc	p.P39L	RFC4_ENST00000296273.2_Missense_Mutation_p.P39L|RFC4_ENST00000433496.1_Missense_Mutation_p.P39L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	39					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.P39L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTCCACCCAGGGAACGGGTTT	0.398																																						ENST00000392481.2																			1	Substitution - Missense(1)	p.P39L(1)	kidney(1)	breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(115-117)cCc>cTc		replication factor C (activator 1) 4, 37kDa							157.0	148.0	151.0					3																	186522387		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186522387G>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.116C>T	3.37:g.186522387G>A	ENSP00000376272:p.Pro39Leu					RFC4_ENST00000433496.1_Missense_Mutation_p.P39L|RFC4_ENST00000296273.2_Missense_Mutation_p.P39L	p.P39L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	2	397	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		39					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.116C>T	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168459	0.94768	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785;ENST00000448497;ENST00000411792	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.53249	1.67	0.80722	D	1	P;P	0.52170	0.951;0.951	P;P	0.62885	0.728;0.908	T	0.59925	-0.7362	10	0.72032	D	0.01	-0.7012	17.1526	0.86781	0.0:0.0:1.0:0.0	.	39;39	B4DM41;P35249	.;RFC4_HUMAN	L	39	ENSP00000399769:P39L;ENSP00000376272:P39L;ENSP00000296273:P39L;ENSP00000411300:P39L;ENSP00000413065:P39L;ENSP00000407982:P39L;ENSP00000415099:P39L	ENSP00000296273:P39L	P	-	2	0	RFC4	188005081	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	8.345000	0.90057	2.648000	0.89879	0.563000	0.77884	CCC		0.398	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		50	96	0	0	0	1	0	50	96				
KBTBD4	55709	broad.mit.edu	37	11	47599055	47599055	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47599055G>T	ENST00000526005.1	-	2	650	c.497C>A	c.(496-498)gCc>gAc	p.A166D	NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182D|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166D|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215D|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.A191D			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(571-573)gCc>gAc		kelch repeat and BTB (POZ) domain containing 4							130.0	129.0	130.0					11																	47599055		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599055G>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.497C>A	11.37:g.47599055G>T	ENSP00000433340:p.Ala166Asp					KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166D|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166D|KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215D|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182D	p.A191D			Q9NVX7	KBTB4_HUMAN			1	1286	-			166			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.572C>A	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.781308|4.781308	0.90282|0.90282	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499|ENST00000359900	T;T;T;T;T;T|.	0.73469|.	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75|.	5.5|5.5	4.59|4.59	0.56863|0.56863	BTB/Kelch-associated (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.996;0.998;0.998|.	T|T	0.74578|0.74578	-0.3619|-0.3619	10|6	0.87932|0.23302	D|T	0|0.38	-13.2968|-13.2968	14.2719|14.2719	0.66157|0.66157	0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0	.|.	182;166;191|.	Q9NVX7-2;Q9NVX7;B3KRH9|.	.;KBTB4_HUMAN;.|.	D|T	166;191;166;182;215;166|176	ENSP00000433340:A166D;ENSP00000436713:A191D;ENSP00000378703:A166D;ENSP00000415106:A182D;ENSP00000434477:A215D;ENSP00000433404:A166D|.	ENSP00000378703:A166D|ENSP00000352971:P176T	A|P	-|-	2|1	0|0	KBTBD4|KBTBD4	47555631|47555631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.472000|9.472000	0.97709|0.97709	1.332000|1.332000	0.45431|0.45431	0.456000|0.456000	0.33151|0.33151	GCC|CCA		0.542	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		57	83	1	0	3.4597e-24	1	4.58709e-24	57	83				
DKC1	1736	broad.mit.edu	37	X	154004499	154004499	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154004499C>A	ENST00000369550.5	+	14	1586	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	SNORA56_ENST00000383966.1_RNA|DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	459	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACGAGACTCCTCCAGCAGCT	0.493									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1375-1377)cCt>cAt		dyskeratosis congenita 1, dyskerin							70.0	63.0	65.0					X																	154004499		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154004499C>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1376C>A	X.37:g.154004499C>A	ENSP00000358563:p.Pro459His					DKC1_ENST00000475966.1_3'UTR	p.P459H	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			14	1586	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		459			Nuclear and nucleolar localization.		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1376C>A	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907247	0.17833	.	.	ENSG00000130826	ENST00000369550	D	0.97209	-4.29	4.35	4.35	0.52113	.	1.089140	0.07050	N	0.831773	D	0.93200	0.7834	N	0.08118	0	0.09310	N	1	B;B	0.26258	0.145;0.145	B;B	0.30179	0.112;0.112	D	0.86360	0.1716	10	0.66056	D	0.02	-0.1306	13.4086	0.60929	0.0:1.0:0.0:0.0	.	459;459	A8MUT5;O60832	.;DKC1_HUMAN	H	459	ENSP00000358563:P459H	ENSP00000358563:P459H	P	+	2	0	DKC1	153657693	0.003000	0.15002	0.022000	0.16811	0.132000	0.20833	1.598000	0.36740	2.099000	0.63709	0.600000	0.82982	CCT		0.493	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		21	27	1	0	1.50039e-11	1	1.87199e-11	21	27				
SPTBN1	6711	broad.mit.edu	37	2	54876139	54876139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54876139C>T	ENST00000356805.4	+	25	5295	c.5014C>T	c.(5014-5016)Cgg>Tgg	p.R1672W	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R1659W	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1672	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATTAGCATGCGGCAGTCCAA	0.448																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(4975-4977)Cgg>Tgg		spectrin, beta, non-erythrocytic 1							41.0	38.0	39.0					2																	54876139		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54876139C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5014C>T	2.37:g.54876139C>T	ENSP00000349259:p.Arg1672Trp					SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1672W	p.R1659W	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		24	5360	+			1672			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.4975C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389564	0.82902	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.56444	0.46;0.46	5.91	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.79805	2.47	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.77587	-0.2532	10	0.87932	D	0	.	14.6581	0.68850	0.3791:0.6209:0.0:0.0	.	1659;1672	Q01082-3;Q01082	.;SPTB2_HUMAN	W	1672;1659	ENSP00000349259:R1672W;ENSP00000334156:R1659W	ENSP00000334156:R1659W	R	+	1	2	SPTBN1	54729643	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.505000	0.45424	0.776000	0.33473	0.650000	0.86243	CGG		0.448	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			11	12	0	0	0	1	0	11	12				
SUPV3L1	6832	broad.mit.edu	37	10	70968443	70968443	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70968443C>T	ENST00000359655.4	+	15	2073	c.2013C>T	c.(2011-2013)caC>caT	p.H671H		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	671	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGTGTGCACAATATCACTA	0.413																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2011-2013)caC>caT		suppressor of var1, 3-like 1 (S. cerevisiae)							128.0	121.0	123.0					10																	70968443		2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70968443C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2013C>T	10.37:g.70968443C>T							p.H671H	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			15	2073	+			671			Interaction with HBXIP, important for protein stability.		A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.2013C>T	CCDS7287.1																																																																																				0.413	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		26	68	0	0	0	1	0	26	68				
TUBA3C	7278	broad.mit.edu	37	13	19748045	19748045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748045C>A	ENST00000400113.3	-	5	1415	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	437					'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)		CCACGGAATCCACGCCCACCT	0.597																																						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.(1309-1311)gtG>gtT		tubulin, alpha 3c							118.0	121.0	120.0					13																	19748045		2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748045C>A	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.1311G>T	13.37:g.19748045C>A							p.V437V	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	1415	-		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)	437					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.1311G>T	CCDS9284.1																																																																																				0.597	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		35	61	1	0	5.59293e-11	1	6.93756e-11	35	61				
NDRG4	65009	broad.mit.edu	37	16	58538058	58538058	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538058A>G	ENST00000570248.1	+	3	234	c.128A>G	c.(127-129)cAc>cGc	p.H43R	NDRG4_ENST00000356752.4_Splice_Site_p.H73R|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000563799.1_Splice_Site_p.D61G|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Splice_Site_p.H61R|NDRG4_ENST00000394279.2_Splice_Site_p.H75R|NDRG4_ENST00000562999.1_Splice_Site_p.H43R|NDRG4_ENST00000394282.4_Splice_Site_p.H95R|NDRG4_ENST00000258187.5_Splice_Site_p.H75R|NDRG4_ENST00000566192.1_Splice_Site_p.H43R	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	43					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTCTTTGCAGACAAACTATGC	0.577																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.e5-1		NDRG family member 4							126.0	129.0	128.0					16																	58538058		2198	4300	6498	SO:0001630	splice_region_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538058A>G	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.128-1A>G	16.37:g.58538058A>G						NDRG4_ENST00000258187.5_Splice_Site_p.H75_splice|NDRG4_ENST00000566192.1_Splice_Site_p.H43_splice|NDRG4_ENST00000563799.1_Splice_Site_p.D61_splice|NDRG4_ENST00000562999.1_Splice_Site_p.H43_splice|NDRG4_ENST00000394279.2_Splice_Site_p.H75_splice|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000356752.4_Splice_Site_p.H73_splice|NDRG4_ENST00000570248.1_Splice_Site_p.H43_splice|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Splice_Site_p.H61_splice	p.H95_splice	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			5	691	+			43					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Splice_Site	SNP	ENST00000570248.1	37	c.283_splice	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272585	0.80580	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.15	5.15	0.70609	.	0.049820	0.85682	D	0.000000	T	0.27349	0.0671	M	0.76328	2.33	0.80722	D	1	B;B;B;B;B;B	0.32653	0.005;0.379;0.0;0.004;0.004;0.001	B;B;B;B;B;B	0.33196	0.021;0.159;0.001;0.015;0.003;0.002	T	0.04294	-1.0962	9	.	.	.	.	14.1511	0.65384	1.0:0.0:0.0:0.0	.	61;73;43;43;95;75	B4DK66;B4DSW5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;NDRG4_HUMAN;.;.	R	75;95;75;73	ENSP00000258187:H75R;ENSP00000377823:H95R;ENSP00000377820:H75R;ENSP00000349193:H73R	.	H	+	2	0	NDRG4	57095559	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.275000	0.95738	1.941000	0.56285	0.459000	0.35465	CAC		0.577	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2		Missense_Mutation	18	141	0	0	0	1	0	18	141				
CR2	1380	broad.mit.edu	37	1	207640205	207640205	+	Nonsense_Mutation	SNP	G	G	A	rs543047560		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207640205G>A	ENST00000367058.3	+	2	582	c.393G>A	c.(391-393)tgG>tgA	p.W131*	CR2_ENST00000367059.3_Nonsense_Mutation_p.W131*|CR2_ENST00000458541.2_Nonsense_Mutation_p.W131*|CR2_ENST00000367057.3_Nonsense_Mutation_p.W131*	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	131	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTCTGTTTGGTGTCAAGCAA	0.458																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(391-393)tgG>tgA		complement component (3d/Epstein Barr virus) receptor 2							88.0	85.0	86.0					1																	207640205		2203	4300	6503	SO:0001587	stop_gained	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640205G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.393G>A	1.37:g.207640205G>A	ENSP00000356025:p.Trp131*					CR2_ENST00000367059.3_Nonsense_Mutation_p.W131*|CR2_ENST00000367058.3_Nonsense_Mutation_p.W131*|CR2_ENST00000458541.2_Nonsense_Mutation_p.W131*	p.W131*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	582	+			131			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Nonsense_Mutation	SNP	ENST00000367058.3	37	c.393G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864391	0.51482	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	13.6796	0.62476	0.0:0.0:1.0:0.0	.	.	.	.	X	131	.	ENSP00000356024:W131X	W	+	3	0	CR2	205706828	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	4.231000	0.58639	2.607000	0.88179	0.655000	0.94253	TGG		0.458	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		4	64	0	0	0	1	0	4	64				
EPHA7	2045	broad.mit.edu	37	6	93953252	93953252	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93953252C>T	ENST00000369303.4	-	17	3073	c.2889G>A	c.(2887-2889)gtG>gtA	p.V963V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	963	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.V963V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAAACTCATCACATCCCTGA	0.353																																						ENST00000369303.4																			1	Substitution - coding silent(1)	p.V963V(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2887-2889)gtG>gtA		EPH receptor A7							216.0	181.0	193.0					6																	93953252		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93953252C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2889G>A	6.37:g.93953252C>T							p.V963V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	17	3073	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	963			SAM.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.2889G>A	CCDS5031.1																																																																																				0.353	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			33	56	0	0	0	1	0	33	56				
FABP7	2173	broad.mit.edu	37	6	123104897	123104897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123104897C>A	ENST00000368444.3	+	4	704	c.384C>A	c.(382-384)caC>caA	p.H128Q		NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	128	Fatty acid binding.				cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	CTGTTCGCCACTATGAGAAGG	0.403																																						ENST00000368444.3																			0				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(382-384)caC>caA		fatty acid binding protein 7, brain	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)						171.0	162.0	165.0					6																	123104897		2203	4300	6503	SO:0001583	missense	2173				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	g.chr6:123104897C>A	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"""Fatty acid binding protein family"""	3562	protein-coding gene	gene with protein product	"""brain lipid binding protein"""	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.384C>A	6.37:g.123104897C>A	ENSP00000357429:p.His128Gln						p.H128Q	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN		GBM - Glioblastoma multiforme(226;0.226)	4	704	+			128			Fatty acid binding.		B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP	ENST00000368444.3	37	c.384C>A	CCDS5127.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127143	0.37533	.	.	ENSG00000164434	ENST00000368444	T	0.07800	3.16	5.4	-0.499	0.12015	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.02012	0.0063	L	0.38838	1.175	0.80722	D	1	B	0.02656	0.0	B	0.14023	0.01	T	0.39860	-0.9593	9	0.42905	T	0.14	.	4.272	0.10791	0.1162:0.2661:0.4553:0.1623	.	128	O15540	FABP7_HUMAN	Q	128	ENSP00000357429:H128Q	ENSP00000357429:H128Q	H	+	3	2	FABP7	123146596	0.644000	0.27277	0.953000	0.39169	0.992000	0.81027	-0.179000	0.09768	-0.319000	0.08652	0.462000	0.41574	CAC		0.403	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446		12	101	1	0	0.0202918	1	0.0209785	12	101				
ALDH6A1	4329	broad.mit.edu	37	14	74531942	74531942	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74531942A>C	ENST00000553458.1	-	10	1444	c.1346T>G	c.(1345-1347)aTc>aGc	p.I449S	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.I166S|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.I436S|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000394009.3_3'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	449					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GGTGGTGAAGATGGCAGTTCC	0.423																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(1345-1347)aTc>aGc		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						166.0	147.0	153.0					14																	74531942		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74531942A>C	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.1346T>G	14.37:g.74531942A>C	ENSP00000450436:p.Ile449Ser					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.I436S|CCDC176_ENST00000394009.3_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.I166S	p.I449S	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	10	1444	-			449					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.1346T>G	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712643	0.89112	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	T;T;T	0.80566	-1.39;-1.39;-1.39	5.9	5.9	0.94986	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.93687	0.7983	H	0.98388	4.22	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.67231	0.95;0.95	D	0.96028	0.9014	10	0.87932	D	0	.	16.3283	0.82996	1.0:0.0:0.0:0.0	.	436;449	B4DFS8;Q02252	.;MMSA_HUMAN	S	449;436;166	ENSP00000450436:I449S;ENSP00000342564:I436S;ENSP00000452081:I166S	ENSP00000342564:I449S	I	-	2	0	ALDH6A1	73601695	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.339000	0.96797	2.257000	0.74773	0.533000	0.62120	ATC		0.423	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			4	73	0	0	0	1	0	4	73				
CBX2	84733	broad.mit.edu	37	17	77758262	77758262	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77758262C>T	ENST00000310942.4	+	5	1124	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	340					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGCTGGGTGCCCAGGCCCCC	0.682																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(1018-1020)tgC>tgT		chromobox homolog 2							12.0	16.0	15.0					17																	77758262		2194	4274	6468	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758262C>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1020C>T	17.37:g.77758262C>T							p.C340C	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1124	+			340					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.1020C>T	CCDS32757.1																																																																																				0.682	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		5	12	0	0	0	1	0	5	12				
FAM21EP	100421577	broad.mit.edu	37	10	51807990	51807990	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51807990G>A	ENST00000456967.1	-	0	1862					NR_038275.1																						CAACAGGGCAGATGCTTTCTT	0.448																																						ENST00000456967.1																			0																																																			0							g.chr10:51807990G>A																													10.37:g.51807990G>A								NR_038275.1						0	1862	-									RNA	SNP	ENST00000456967.1	37																																																																																						0.448	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			28	41	0	0	0	1	0	28	41				
ADRBK1	156	broad.mit.edu	37	11	67049162	67049162	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049162G>A	ENST00000308595.5	+	10	1079	c.789G>A	c.(787-789)acG>acA	p.T263T	ADRBK1_ENST00000526285.1_Silent_p.T263T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGTTCCACACGCCAGACAAGC	0.657																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(787-789)acG>acA		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						95.0	83.0	87.0					11																	67049162		2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049162G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.789G>A	11.37:g.67049162G>A						ADRBK1_ENST00000526285.1_Silent_p.T263T	p.T263T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1079	+			263			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.789G>A	CCDS8156.1																																																																																				0.657	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		26	25	0	0	0	1	0	26	25				
TACC2	10579	broad.mit.edu	37	10	123843937	123843937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123843937C>A	ENST00000369005.1	+	4	2262	c.1922C>A	c.(1921-1923)gCt>gAt	p.A641D	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A641D|TACC2_ENST00000334433.3_Missense_Mutation_p.A641D|TACC2_ENST00000515603.1_Missense_Mutation_p.A641D|TACC2_ENST00000515273.1_Missense_Mutation_p.A641D|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	641					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGGGGGTGCTGGGCACACG	0.607																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1921-1923)gCt>gAt		transforming, acidic coiled-coil containing protein 2							37.0	35.0	36.0					10																	123843937		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843937C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1922C>A	10.37:g.123843937C>A	ENSP00000358001:p.Ala641Asp					TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A641D|TACC2_ENST00000515273.1_Missense_Mutation_p.A641D|TACC2_ENST00000453444.2_Missense_Mutation_p.A641D|TACC2_ENST00000515603.1_Missense_Mutation_p.A641D	p.A641D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2262	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	641					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1922C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977832	0.34942	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03524	3.9;3.9;3.92;3.9;3.9	5.02	4.11	0.48088	.	.	.	.	.	T	0.03053	0.0090	N	0.24115	0.695	0.09310	N	1	P;P;P	0.37466	0.596;0.596;0.596	B;B;B	0.32289	0.143;0.143;0.143	T	0.41431	-0.9509	9	0.87932	D	0	-0.1526	9.8673	0.41152	0.0:0.9004:0.0:0.0996	.	641;641;641	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	D	641;641;641;641;641;631	ENSP00000358001:A641D;ENSP00000424467:A641D;ENSP00000427618:A641D;ENSP00000334280:A641D;ENSP00000395048:A641D	ENSP00000334280:A641D	A	+	2	0	TACC2	123833927	0.000000	0.05858	0.008000	0.14137	0.025000	0.11179	0.154000	0.16343	2.330000	0.79161	0.561000	0.74099	GCT		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			6	17	1	0	0.00116845	1	0.00124821	6	17				
EGFR	1956	broad.mit.edu	37	7	55210006	55210006	+	Missense_Mutation	SNP	C	C	T	rs375919121		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55210006C>T	ENST00000275493.2	+	2	293	c.116C>T	c.(115-117)aCg>aTg	p.T39M	EGFR_ENST00000455089.1_Missense_Mutation_p.T39M|EGFR_ENST00000344576.2_Missense_Mutation_p.T39M|EGFR_ENST00000420316.2_Missense_Mutation_p.T39M|EGFR_ENST00000442591.1_Missense_Mutation_p.T39M|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000342916.3_Missense_Mutation_p.T39M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	39			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AACAAGCTCACGCAGTTGGGC	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(115-117)aCg>aTg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	163.0	151.0	155.0		116,116,116,116	6.1	1.0	7		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	39/1211,39/629,39/406,39/706	55210006	1,13005	2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210006C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.116C>T	7.37:g.55210006C>T	ENSP00000275493:p.Thr39Met	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.T39M|EGFR_ENST00000420316.2_Missense_Mutation_p.T39M|EGFR_ENST00000342916.3_Missense_Mutation_p.T39M|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000442591.1_Missense_Mutation_p.T39M|EGFR_ENST00000455089.1_Missense_Mutation_p.T39M	p.T39M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	293	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		39					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.116C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554796	0.65425	0.0	1.16E-4	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591	T;D;D;D;D;D	0.83250	-0.93;-1.7;-1.7;-1.7;-1.7;-1.7	6.05	6.05	0.98169	.	0.089786	0.85682	D	0.000000	D	0.89774	0.6812	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	0.981;0.999;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.551;0.942;0.999;0.993;0.997	D	0.89862	0.4017	10	0.72032	D	0.01	.	14.0539	0.64754	0.1508:0.8492:0.0:0.0	.	39;39;39;39;39	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	M	39	ENSP00000415559:T39M;ENSP00000342376:T39M;ENSP00000345973:T39M;ENSP00000413843:T39M;ENSP00000275493:T39M;ENSP00000410031:T39M	ENSP00000275493:T39M	T	+	2	0	EGFR	55177500	0.193000	0.23313	0.996000	0.52242	0.890000	0.51754	1.001000	0.29783	2.878000	0.98634	0.650000	0.86243	ACG		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		6	146	0	0	0	1	0	6	146				
EXTL3	2137	broad.mit.edu	37	8	28573827	28573827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573827G>A	ENST00000220562.4	+	3	1153	c.251G>A	c.(250-252)cGc>cAc	p.R84H	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	84					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.R84H(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCTGTGCCGCATCCGGGAG	0.597																																						ENST00000220562.4																			1	Substitution - Missense(1)	p.R84H(1)	large_intestine(1)	biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(250-252)cGc>cAc		exostosin-like glycosyltransferase 3							75.0	72.0	73.0					8																	28573827		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573827G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.251G>A	8.37:g.28573827G>A	ENSP00000220562:p.Arg84His					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.R84H	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1153	+		Ovarian(32;0.069)	84					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.251G>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389459	0.82902	.	.	ENSG00000012232	ENST00000220562	D	0.97209	-4.29	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	D	0.97294	0.9926	9	.	.	.	-16.5323	19.4523	0.94872	0.0:0.0:1.0:0.0	.	84	O43909	EXTL3_HUMAN	H	84	ENSP00000220562:R84H	.	R	+	2	0	EXTL3	28629746	1.000000	0.71417	0.922000	0.36590	0.844000	0.47949	9.869000	0.99810	2.600000	0.87896	0.491000	0.48974	CGC		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		12	24	0	0	0	1	0	12	24				
GNB2L1	10399	broad.mit.edu	37	5	180665164	180665164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180665164C>T	ENST00000512805.1	-	6	1120	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	GNB2L1_ENST00000511900.1_Missense_Mutation_p.A190T|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000514455.1_Missense_Mutation_p.A22T|GNB2L1_ENST00000376817.4_Missense_Mutation_p.A194T|GNB2L1_ENST00000505461.1_5'Flank|GNB2L1_ENST00000504726.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	238					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AAGCACAGGGCGTTGATGATG	0.542																																						ENST00000512805.1																			0				lung(3)|skin(2)	5						c.(712-714)Gcc>Acc		guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1							221.0	188.0	199.0					5																	180665164		2203	4300	6503	SO:0001583	missense	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180665164C>T	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.712G>A	5.37:g.180665164C>T	ENSP00000426909:p.Ala238Thr					GNB2L1_ENST00000376817.4_Missense_Mutation_p.A194T|GNB2L1_ENST00000514455.1_Missense_Mutation_p.A22T|GNB2L1_ENST00000511900.1_Missense_Mutation_p.A190T|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000504726.1_Intron	p.A238T	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	6	1120	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	238					B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	ENST00000512805.1	37	c.712G>A	CCDS34324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.802437|4.802437	0.90538|0.90538	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000514455;ENST00000376817;ENST00000512805;ENST00000511900;ENST00000512968;ENST00000510199;ENST00000502844|ENST00000509148;ENST00000502905;ENST00000504128	T;T;T;T;T;D;D|.	0.81579|.	0.1;0.1;0.1;0.1;0.1;-1.51;-1.51|.	5.91|5.91	5.91|5.91	0.95273|0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77585|0.77585	0.4152|0.4152	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.42248|.	0.774;0.01;0.429;0.01|.	P;B;B;B|.	0.49192|.	0.602;0.015;0.258;0.015|.	T|T	0.76597|0.76597	-0.2901|-0.2901	10|5	0.62326|.	D|.	0.03|.	-16.9295|-16.9295	17.7902|17.7902	0.88550|0.88550	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	256;238;190;238|.	D6REE5;E9KL35;D6RAC2;P63244|.	.;.;.;GBLP_HUMAN|.	T|H	22;194;238;190;256;286;224|11;118;144	ENSP00000426708:A22T;ENSP00000366013:A194T;ENSP00000426909:A238T;ENSP00000422768:A190T;ENSP00000425008:A256T;ENSP00000423569:A286T;ENSP00000422029:A224T|.	ENSP00000366013:A194T|.	A|R	-|-	1|2	0|0	GNB2L1|GNB2L1	180597770|180597770	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	7.659000|7.659000	0.83766|0.83766	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.542	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		7	79	0	0	0	1	0	7	79				
MAVS	57506	broad.mit.edu	37	20	3845045	3845045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3845045C>A	ENST00000428216.2	+	6	896	c.768C>A	c.(766-768)tcC>tcA	p.S256S	MAVS_ENST00000416600.2_Silent_p.S115S|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	256					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTTCTCCTCCTCATCCCCTG	0.632																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(766-768)tcC>tcA		mitochondrial antiviral signaling protein							68.0	60.0	63.0					20																	3845045		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845045C>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.768C>A	20.37:g.3845045C>A						MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.S115S	p.S256S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	896	+			256					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.768C>A	CCDS33437.1																																																																																				0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		22	28	1	0	2.21704e-12	1	2.7869e-12	22	28				
PCNT	5116	broad.mit.edu	37	21	47836174	47836174	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47836174C>T	ENST00000359568.5	+	30	6449	c.6342C>T	c.(6340-6342)tcC>tcT	p.S2114S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2114					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGATGATTCCTGTGACGGAG	0.507																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(6340-6342)tcC>tcT		pericentrin							99.0	92.0	95.0					21																	47836174		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47836174C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6342C>T	21.37:g.47836174C>T						PCNT_ENST00000480896.1_3'UTR	p.S2114S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			30	6449	+	Breast(49;0.112)		2114					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.6342C>T	CCDS33592.1																																																																																				0.507	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		16	15	0	0	0	1	0	16	15				
LMBRD2	92255	broad.mit.edu	37	5	36136434	36136434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36136434C>T	ENST00000296603.4	-	6	1186	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	242						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAATTCTCTTCTGCATCT	0.373																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(724-726)Gag>Aag		LMBR1 domain containing 2							220.0	214.0	216.0					5																	36136434		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36136434C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.724G>A	5.37:g.36136434C>T	ENSP00000296603:p.Glu242Lys						p.E242K	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1186	-	all_lung(31;0.000146)		242					B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.724G>A	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	36	5.902143	0.97087	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.35421	1.31	6.17	6.17	0.99709	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.82323	2.585	0.80722	D	1	P	0.36199	0.543	B	0.38985	0.287	T	0.44406	-0.9330	10	0.12430	T	0.62	-14.2839	20.8794	0.99867	0.0:1.0:0.0:0.0	.	242	Q68DH5	LMBD2_HUMAN	K	242;136	ENSP00000296603:E242K	ENSP00000296603:E242K	E	-	1	0	LMBRD2	36172191	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.401000	0.79962	2.941000	0.99782	0.655000	0.94253	GAG		0.373	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		65	128	0	0	0	1	0	65	128				
ASXL1	171023	broad.mit.edu	37	20	31022979	31022979	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31022979A>G	ENST00000375687.4	+	13	2888	c.2464A>G	c.(2464-2466)Aca>Gca	p.T822A	ASXL1_ENST00000306058.5_Missense_Mutation_p.T817A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	822					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T822fs*11(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGAGATGATACATTAGAGAA	0.502			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		1	Insertion - Frameshift(1)	p.T822fs*11(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2464-2466)Aca>Gca		additional sex combs like 1 (Drosophila)							136.0	122.0	127.0					20																	31022979		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022979A>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2464A>G	20.37:g.31022979A>G	ENSP00000364839:p.Thr822Ala					ASXL1_ENST00000306058.5_Missense_Mutation_p.T817A	p.T822A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2888	+			822					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.2464A>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287685	0.23478	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.13538	2.58;2.58	2.95	-0.323	0.12709	.	3.734910	0.00496	N	0.000149	T	0.06781	0.0173	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	10	0.09338	T	0.73	5.455	1.138	0.01759	0.2197:0.1625:0.4318:0.186	.	817;822	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	A	822;822;822;743;817	ENSP00000364839:T822A;ENSP00000305119:T817A	ENSP00000305119:T817A	T	+	1	0	ASXL1	30486640	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	0.146000	0.16180	-0.034000	0.13713	0.254000	0.18369	ACA		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		36	60	0	0	0	1	0	36	60				
TMEM97	27346	broad.mit.edu	37	17	26653718	26653718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26653718G>A	ENST00000226230.6	+	3	575	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	TMEM97_ENST00000336687.6_Missense_Mutation_p.V37M|TMEM97_ENST00000583381.1_Missense_Mutation_p.V37M	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	144					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTTAACCCTTGTGTCTGTCTA	0.403																																						ENST00000226230.6																			0				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(430-432)Gtg>Atg		transmembrane protein 97							125.0	92.0	103.0					17																	26653718		2203	4300	6503	SO:0001583	missense	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653718G>A	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.430G>A	17.37:g.26653718G>A	ENSP00000226230:p.Val144Met					TMEM97_ENST00000336687.6_Missense_Mutation_p.V37M|TMEM97_ENST00000583381.1_Missense_Mutation_p.V37M	p.V144M	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	575	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		144					B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	37	c.430G>A	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	G	3.363	-0.129985	0.06753	.	.	ENSG00000109084	ENST00000226230;ENST00000336687	.	.	.	5.93	-5.82	0.02333	.	0.872931	0.10269	N	0.695001	T	0.19485	0.0468	L	0.46157	1.445	0.09310	N	1	P	0.38280	0.625	B	0.34931	0.192	T	0.15122	-1.0448	9	0.22109	T	0.4	0.6312	1.567	0.02606	0.3111:0.1483:0.3583:0.1823	.	144	Q5BJF2	TMM97_HUMAN	M	144;37	.	ENSP00000226230:V144M	V	+	1	0	TMEM97	23677845	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.231000	0.02939	-1.037000	0.03283	-0.797000	0.03246	GTG		0.403	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		4	28	0	0	0	1	0	4	28				
KIAA1217	56243	broad.mit.edu	37	10	24809090	24809090	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24809090C>A	ENST00000376454.3	+	11	2246	c.2216C>A	c.(2215-2217)tCc>tAc	p.S739Y	KIAA1217_ENST00000396445.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S704Y|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S659Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S704Y|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S422Y|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S422Y|KIAA1217_ENST00000430453.2_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	739					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAAGGACTCCACGGCAGCC	0.542																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1264-1266)tCc>tAc		KIAA1217							141.0	142.0	141.0					10																	24809090		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24809090C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2216C>A	10.37:g.24809090C>A	ENSP00000365637:p.Ser739Tyr					KIAA1217_ENST00000376454.3_Missense_Mutation_p.S739Y|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S704Y|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S422Y|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S704Y|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S659Y|KIAA1217_ENST00000430453.2_Intron	p.S422Y			Q5T5P2	SKT_HUMAN			6	1525	+			739					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1265C>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613060	0.66672	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.87	4.87	0.63330	.	0.421342	0.26867	N	0.022099	T	0.68897	0.3051	M	0.68593	2.085	0.43499	D	0.995745	D;D;D;D;D;D;D;D	0.89917	0.998;0.994;0.989;0.996;1.0;0.989;0.999;0.986	D;P;P;D;D;P;D;P	0.72338	0.916;0.825;0.814;0.929;0.977;0.814;0.965;0.814	T	0.71613	-0.4540	10	0.72032	D	0.01	.	13.2171	0.59867	0.1589:0.8411:0.0:0.0	.	704;704;422;422;422;422;739;739	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	Y	659;704;704;422;739;704;554;422;422;422;422;422	ENSP00000365645:S659Y;ENSP00000365639:S704Y;ENSP00000392625:S704Y;ENSP00000365637:S739Y;ENSP00000365635:S704Y;ENSP00000404798:S554Y;ENSP00000302343:S422Y;ENSP00000379722:S422Y;ENSP00000365634:S422Y;ENSP00000379723:S422Y	ENSP00000302343:S422Y	S	+	2	0	KIAA1217	24849096	0.997000	0.39634	0.898000	0.35279	0.822000	0.46500	4.674000	0.61612	2.513000	0.84729	0.655000	0.94253	TCC		0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		56	84	1	0	6.83704e-37	1	9.20759e-37	56	84				
SNX7	51375	broad.mit.edu	37	1	99161245	99161245	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:99161245T>G	ENST00000306121.3	+	5	820	c.811T>G	c.(811-813)Tct>Gct	p.S271A	SNX7_ENST00000370189.5_Missense_Mutation_p.S207A|SNX7_ENST00000529992.1_Missense_Mutation_p.S216A	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	207					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGATAAAATATCTCAGAGAAT	0.318																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(619-621)Tct>Gct		sorting nexin 7							35.0	46.0	42.0					1																	99161245		2185	4289	6474	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161245T>G	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.811T>G	1.37:g.99161245T>G	ENSP00000304429:p.Ser271Ala					SNX7_ENST00000529992.1_Missense_Mutation_p.S216A|SNX7_ENST00000306121.3_Missense_Mutation_p.S271A	p.S207A			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	983	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	207					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.619T>G	CCDS755.2	.	.	.	.	.	.	.	.	.	.	T	5.621	0.299270	0.10622	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.29142	1.98;1.58;1.58	5.65	5.65	0.86999	.	0.160594	0.56097	D	0.000022	T	0.07188	0.0182	N	0.11201	0.11	0.34601	D	0.716483	B;B;B	0.19073	0.033;0.002;0.001	B;B;B	0.24848	0.056;0.008;0.005	T	0.19712	-1.0297	10	0.11794	T	0.64	-23.5451	12.8741	0.57980	0.0:0.0:0.1445:0.8555	.	216;271;207	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	A	207;216;271	ENSP00000359208:S207A;ENSP00000434731:S216A;ENSP00000304429:S271A	ENSP00000304429:S271A	S	+	1	0	SNX7	98933833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.583000	0.60964	2.276000	0.75962	0.528000	0.53228	TCT		0.318	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			29	77	0	0	0	1	0	29	77				
NUSAP1	51203	broad.mit.edu	37	15	41667964	41667964	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41667964A>G	ENST00000559596.1	+	9	1148	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	NUSAP1_ENST00000560177.1_Missense_Mutation_p.K353R|NUSAP1_ENST00000414849.2_Missense_Mutation_p.K353R|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000560747.1_Missense_Mutation_p.K352R|NUSAP1_ENST00000260359.6_Missense_Mutation_p.K339R|NUSAP1_ENST00000450318.1_Intron			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	354	Interaction with microtubules. {ECO:0000250}.				establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTCTCCAATAAGAAACCAGTG	0.408																																						ENST00000260359.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13						c.(1015-1017)aAg>aGg		nucleolar and spindle associated protein 1							133.0	125.0	127.0					15																	41667964		2196	4297	6493	SO:0001583	missense	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41667964A>G	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.1061A>G	15.37:g.41667964A>G	ENSP00000453403:p.Lys354Arg					NUSAP1_ENST00000560177.1_Missense_Mutation_p.K353R|NUSAP1_ENST00000414849.2_Missense_Mutation_p.K353R|NUSAP1_ENST00000560747.1_Missense_Mutation_p.K352R|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000450318.1_Intron|NUSAP1_ENST00000559596.1_Missense_Mutation_p.K354R|NUSAP1_ENST00000558123.1_Intron	p.K339R	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	9	1280	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	354			Interaction with microtubules (By similarity).		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	c.1016A>G	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206561	0.95033	.	.	ENSG00000137804	ENST00000260359;ENST00000414849	T	0.39787	1.06	5.04	-1.3	0.09259	.	0.234774	0.42548	N	0.000686	T	0.56949	0.2020	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.76494	0.993;0.993;0.999;0.993;0.997	P;P;D;P;D	0.64144	0.88;0.88;0.922;0.88;0.922	T	0.58036	-0.7707	10	0.66056	D	0.02	.	9.2195	0.37368	0.643:0.0:0.357:0.0	.	352;353;354;354;353	Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;NUSAP_HUMAN;.	R	354;353	ENSP00000400746:K353R	ENSP00000260359:K354R	K	+	2	0	NUSAP1	39455256	1.000000	0.71417	0.423000	0.26634	0.982000	0.71751	0.836000	0.27545	-0.312000	0.08741	0.448000	0.29417	AAG		0.408	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		8	62	0	0	0	1	0	8	62				
GPR155	151556	broad.mit.edu	37	2	175301093	175301093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301093G>T	ENST00000392552.2	-	16	2602	c.2364C>A	c.(2362-2364)agC>agA	p.S788R	GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.S788R|GPR155_ENST00000392551.2_Missense_Mutation_p.S788R	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	788	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATTAGCCAGCTCACCAGGT	0.488																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2362-2364)agC>agA		G protein-coupled receptor 155							117.0	114.0	115.0					2																	175301093		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175301093G>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2364C>A	2.37:g.175301093G>T	ENSP00000376335:p.Ser788Arg					GPR155_ENST00000295500.4_Missense_Mutation_p.S788R|GPR155_ENST00000392551.2_Missense_Mutation_p.S788R|GPR155_ENST00000459996.1_5'UTR	p.S788R	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			16	2602	-			788			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2364C>A	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264042	0.39995	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.14640	2.49;2.49;2.49	6.04	5.16	0.70880	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.163888	0.56097	D	0.000021	T	0.14743	0.0356	L	0.46947	1.48	0.20074	N	0.999937	B	0.15719	0.014	B	0.18871	0.023	T	0.15009	-1.0452	10	0.72032	D	0.01	-8.4998	12.0464	0.53483	0.1371:0.0:0.8629:0.0	.	788	Q7Z3F1	GP155_HUMAN	R	788	ENSP00000376335:S788R;ENSP00000376334:S788R;ENSP00000295500:S788R	ENSP00000295500:S788R	S	-	3	2	GPR155	175009339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.998000	0.40796	1.561000	0.49584	0.561000	0.74099	AGC		0.488	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		32	43	1	0	4.74835e-14	1	6.04786e-14	32	43				
IGHV1-45	28466	broad.mit.edu	37	14	106963001	106963001	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106963001G>T	ENST00000390621.2	-	0	338									immunoglobulin heavy variable 1-45																		TGTGCTCATAGACCTGTCCCT	0.498																																						ENST00000390621.2																			0																				191.0	193.0	192.0					14																	106963001		2063	4226	6289			0							g.chr14:106963001G>T	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963001G>T														0	338	-									RNA	SNP	ENST00000390621.2	37																																																																																						0.498	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		61	107	1	0	1.72039e-30	1	2.30535e-30	61	107				
COL4A4	1286	broad.mit.edu	37	2	227924141	227924141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227924141G>A	ENST00000396625.3	-	28	2570	c.2363C>T	c.(2362-2364)cCg>cTg	p.P788L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P788L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	788	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P788Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGACATCCCGGATCACCTCT	0.532																																						ENST00000396625.3																			1	Substitution - Missense(1)	p.P788Q(1)	lung(1)	breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2362-2364)cCg>cTg		collagen, type IV, alpha 4							147.0	156.0	153.0					2																	227924141		1897	4102	5999	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924141G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2363C>T	2.37:g.227924141G>A	ENSP00000379866:p.Pro788Leu					COL4A4_ENST00000329662.7_Missense_Mutation_p.P788L	p.P788L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2570	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	788			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2363C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753668	0.15778	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96885	-4.16;-4.16	5.99	2.23	0.28157	.	.	.	.	.	D	0.93552	0.7942	L	0.56124	1.755	0.23624	N	0.997262	B	0.16396	0.017	B	0.06405	0.002	D	0.86364	0.1719	9	0.44086	T	0.13	.	9.1114	0.36730	0.2864:0.0:0.7136:0.0	.	788	P53420	CO4A4_HUMAN	L	788	ENSP00000379866:P788L;ENSP00000328553:P788L	ENSP00000328553:P788L	P	-	2	0	COL4A4	227632385	0.615000	0.27026	0.000000	0.03702	0.024000	0.10985	2.211000	0.42825	0.431000	0.26258	-0.150000	0.13652	CCG		0.532	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		63	95	0	0	0	1	0	63	95				
ATP6V1A	523	broad.mit.edu	37	3	113517137	113517137	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113517137C>A	ENST00000273398.3	+	12	1446	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	ATP6V1A_ENST00000538620.1_Silent_p.P413P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	446					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	AGCATTTCCCCTCTGTCAATT	0.393																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1336-1338)ccC>ccA		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							186.0	171.0	176.0					3																	113517137		2203	4300	6503	SO:0001819	synonymous_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113517137C>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1338C>A	3.37:g.113517137C>A						ATP6V1A_ENST00000538620.1_Silent_p.P413P	p.P446P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			12	1446	+			446					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	c.1338C>A	CCDS2976.1																																																																																				0.393	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		17	170	1	0	1.78486e-19	1	2.33646e-19	17	170				
SSH2	85464	broad.mit.edu	37	17	27959346	27959346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27959346C>A	ENST00000269033.3	-	15	2936	c.2785G>T	c.(2785-2787)Gaa>Taa	p.E929*	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.E956*	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	929					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGCTCATTTCTGGTTCCTTG	0.488																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2785-2787)Gaa>Taa		slingshot protein phosphatase 2							168.0	173.0	171.0					17																	27959346		2203	4300	6503	SO:0001587	stop_gained	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959346C>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2785G>T	17.37:g.27959346C>A	ENSP00000269033:p.Glu929*					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.E956*	p.E929*	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2936	-			929					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Nonsense_Mutation	SNP	ENST00000269033.3	37	c.2785G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	35	5.562824	0.96527	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	.	.	.	5.63	4.65	0.58169	.	0.796847	0.12077	N	0.501684	.	.	.	.	.	.	0.33243	D	0.557478	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.9983	14.5886	0.68347	0.0:0.7222:0.2778:0.0	.	.	.	.	X	929;956	.	ENSP00000269033:E929X	E	-	1	0	SSH2	24983472	0.515000	0.26210	0.153000	0.22517	0.270000	0.26580	2.104000	0.41815	1.362000	0.46000	0.579000	0.79373	GAA		0.488	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		77	129	1	0	2.40982e-25	1	3.20332e-25	77	129				
IDE	3416	broad.mit.edu	37	10	94214257	94214257	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94214257G>A	ENST00000265986.6	-	25	3060	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	IDE_ENST00000371581.5_Silent_p.L447L|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1002					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AACAGTGGCAGACCACGCTTG	0.413																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(3004-3006)Ctg>Ttg		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						163.0	159.0	161.0					10																	94214257		2203	4300	6503	SO:0001819	synonymous_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214257G>A	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.3004C>T	10.37:g.94214257G>A						IDE_ENST00000371581.5_Silent_p.L447L|IDE_ENST00000496903.1_5'UTR	p.L1002L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			25	3060	-			1002					B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	c.3004C>T	CCDS7421.1																																																																																				0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		43	64	0	0	0	1	0	43	64				
TNFRSF21	27242	broad.mit.edu	37	6	47253823	47253823	+	Missense_Mutation	SNP	G	G	A	rs146113475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47253823G>A	ENST00000296861.2	-	2	998	c.605C>T	c.(604-606)cCg>cTg	p.P202L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	202					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTTGGTCCCCGGCTTGATCAC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21256	0.0		0.0	False		,,,				2504	0.0					ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(604-606)cCg>cTg		tumor necrosis factor receptor superfamily, member 21							208.0	146.0	167.0					6																	47253823		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253823G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.605C>T	6.37:g.47253823G>A	ENSP00000296861:p.Pro202Leu						p.P202L	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		2	998	-			202					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.605C>T	CCDS4921.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.33	2.204725	0.38905	.	.	ENSG00000146072	ENST00000296861	T	0.70749	-0.51	5.68	2.72	0.32119	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.381464	0.32190	N	0.006442	T	0.30792	0.0776	N	0.11427	0.14	0.58432	D	0.999997	B	0.16166	0.016	B	0.06405	0.002	T	0.15665	-1.0429	10	0.44086	T	0.13	.	9.1277	0.36826	0.139:0.0:0.7418:0.1192	.	202	O75509	TNR21_HUMAN	L	202	ENSP00000296861:P202L	ENSP00000296861:P202L	P	-	2	0	TNFRSF21	47361782	0.994000	0.37717	0.998000	0.56505	0.998000	0.95712	2.199000	0.42715	0.764000	0.33197	0.591000	0.81541	CCG		0.557	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		9	42	0	0	0	1	0	9	42				
ANKRD13C	81573	broad.mit.edu	37	1	70758150	70758150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70758150C>A	ENST00000370944.4	-	9	1449	c.1136G>T	c.(1135-1137)aGt>aTt	p.S379I	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S344I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	379					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCTCTTCACTGAGATGTTC	0.333																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1135-1137)aGt>aTt		ankyrin repeat domain 13C							79.0	76.0	77.0					1																	70758150		2202	4297	6499	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70758150C>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1136G>T	1.37:g.70758150C>A	ENSP00000359982:p.Ser379Ile					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S344I	p.S379I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			9	1449	-			379					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1136G>T	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985063	0.74474	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.50277	0.75;0.75	5.74	4.8	0.61643	.	0.128113	0.64402	D	0.000001	T	0.64746	0.2626	M	0.88377	2.95	0.58432	D	0.999999	P;D	0.56287	0.952;0.975	P;P	0.62649	0.847;0.905	T	0.74426	-0.3669	10	0.87932	D	0	-1.7487	14.9341	0.70938	0.0:0.7288:0.2712:0.0	.	344;379	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	I	379;344	ENSP00000359982:S379I;ENSP00000262346:S344I	ENSP00000262346:S344I	S	-	2	0	ANKRD13C	70530738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.858000	0.55979	1.366000	0.46076	0.557000	0.71058	AGT		0.333	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		20	40	1	0	4.35082e-09	1	5.25983e-09	20	40				
PCDHB4	56131	broad.mit.edu	37	5	140503618	140503618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503618G>A	ENST00000194152.1	+	1	2038	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	680					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAGGCCCAGGCCGA	0.701																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(2038-2040)Gcc>Acc									56.0	64.0	61.0					5																	140503618		2149	4206	6355	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503618G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2038G>A	5.37:g.140503618G>A	ENSP00000194152:p.Ala680Thr						p.A680T	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2038	+			680					Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.2038G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	g	9.619	1.133225	0.21041	.	.	ENSG00000081818	ENST00000194152	T	0.48201	0.82	4.44	1.56	0.23342	.	.	.	.	.	T	0.40909	0.1136	M	0.71296	2.17	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.34428	-0.9829	9	0.31617	T	0.26	.	3.1836	0.06593	0.1246:0.2912:0.4353:0.1489	.	680	Q9Y5E5	PCDB4_HUMAN	T	680	ENSP00000194152:A680T	ENSP00000194152:A680T	A	+	1	0	PCDHB4	140483802	0.000000	0.05858	0.044000	0.18714	0.175000	0.22909	-0.118000	0.10692	0.582000	0.29556	-0.333000	0.08304	GCC		0.701	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		36	58	0	0	0	1	0	36	58				
LAMB4	22798	broad.mit.edu	37	7	107763606	107763606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107763606G>A	ENST00000388781.3	-	2	87	c.4C>T	c.(4-6)Caa>Taa	p.Q2*	LAMB4_ENST00000418464.1_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000414450.2_Nonsense_Mutation_p.Q2*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	2					cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTTGAAATTGCATTCTTTTG	0.308																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4-6)Caa>Taa		laminin, beta 4							99.0	102.0	101.0					7																	107763606		2203	4300	6503	SO:0001587	stop_gained	22798				cell adhesion	basement membrane		g.chr7:107763606G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4C>T	7.37:g.107763606G>A	ENSP00000373433:p.Gln2*					LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000414450.2_Nonsense_Mutation_p.Q2*	p.Q2*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			2	87	-			2					A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	ENST00000388781.3	37	c.4C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005199	0.93287	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	.	.	.	4.61	2.75	0.32379	.	0.585375	0.12977	N	0.423619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.5015	0.16831	0.1023:0.0:0.7007:0.197	.	.	.	.	X	2	.	ENSP00000205386:Q2X	Q	-	1	0	LAMB4	107550842	0.510000	0.26171	0.997000	0.53966	0.908000	0.53690	0.439000	0.21575	0.628000	0.30357	0.563000	0.77884	CAA		0.308	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		53	8	0	0	0	1	0	53	8				
PPAT	5471	broad.mit.edu	37	4	57267048	57267048	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57267048A>C	ENST00000264220.2	-	8	1053	c.916T>G	c.(916-918)Tgt>Ggt	p.C306G	PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	306					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TGCTGGCCACAACGGTATCTT	0.423																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(916-918)Tgt>Ggt		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						138.0	127.0	131.0					4																	57267048		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57267048A>C		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.916T>G	4.37:g.57267048A>C	ENSP00000264220:p.Cys306Gly						p.C306G	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			8	1053	-	Glioma(25;0.08)|all_neural(26;0.101)		306						Missense_Mutation	SNP	ENST00000264220.2	37	c.916T>G	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251556	0.80135	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.83483	2.645	0.80722	D	1	P	0.40731	0.728	P	0.45119	0.47	T	0.76798	-0.2826	9	0.66056	D	0.02	-17.3498	15.8481	0.78907	1.0:0.0:0.0:0.0	.	306	Q06203	PUR1_HUMAN	G	306	.	ENSP00000264220:C306G	C	-	1	0	PPAT	56961805	1.000000	0.71417	0.983000	0.44433	0.960000	0.62799	8.642000	0.91036	2.150000	0.67090	0.519000	0.50382	TGT		0.423	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		9	85	0	0	0	1	0	9	85				
OR4C13	283092	broad.mit.edu	37	11	49974251	49974251	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49974251A>G	ENST00000555099.1	+	1	309	c.277A>G	c.(277-279)Aat>Gat	p.N93D		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TATCTTATTCAATGGATGTAT	0.408																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(277-279)Aat>Gat		olfactory receptor, family 4, subfamily C, member 13							140.0	138.0	139.0					11																	49974251		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974251A>G	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.277A>G	11.37:g.49974251A>G	ENSP00000452277:p.Asn93Asp						p.N93D	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	309	+			93					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.277A>G	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	0.329	-0.957189	0.02267	.	.	ENSG00000258817	ENST00000555099	T	0.00487	7.05	2.95	0.632	0.17705	GPCR, rhodopsin-like superfamily (1);	0.265290	0.26788	N	0.022492	T	0.00328	0.0010	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.45716	-0.9242	9	.	.	.	.	2.9003	0.05703	0.478:0.2433:0.2787:0.0	.	93	Q8NGP0	OR4CD_HUMAN	D	93	ENSP00000452277:N93D	.	N	+	1	0	OR4C13	49930827	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	-1.266000	0.02842	0.351000	0.24027	0.164000	0.16699	AAT		0.408	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		6	179	0	0	0	1	0	6	179				
ANKRD40	91369	broad.mit.edu	37	17	48777955	48777955	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48777955C>A	ENST00000285243.6	-	2	526	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	86										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GATTTCTCTCCTTGATGTTAA	0.413																																						ENST00000285243.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(256-258)aGg>aTg		ankyrin repeat domain 40							209.0	183.0	192.0					17																	48777955		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48777955C>A	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.257G>T	17.37:g.48777955C>A	ENSP00000285243:p.Arg86Met						p.R86M	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		2	526	-			86					Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.257G>T	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306536	0.60305	.	.	ENSG00000154945	ENST00000285243	T	0.68479	-0.33	5.26	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.111775	0.64402	D	0.000010	T	0.54175	0.1842	L	0.40543	1.245	0.42835	D	0.99403	P	0.44195	0.828	B	0.40782	0.34	T	0.56565	-0.7958	10	0.51188	T	0.08	-8.4313	6.5236	0.22289	0.0:0.7046:0.0:0.2954	.	86	Q6AI12	ANR40_HUMAN	M	86	ENSP00000285243:R86M	ENSP00000285243:R86M	R	-	2	0	ANKRD40	46132954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.984000	0.49353	1.432000	0.47375	0.655000	0.94253	AGG		0.413	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		29	87	1	0	4.15321e-07	1	4.86422e-07	29	87				
DNPEP	23549	broad.mit.edu	37	2	220251081	220251081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251081T>C	ENST00000273075.4	-	5	606	c.386A>G	c.(385-387)gAg>gGg	p.E129G	DNPEP_ENST00000523282.1_Missense_Mutation_p.E137G|AC053503.4_ENST00000420563.1_RNA|DNPEP_ENST00000373972.1_Missense_Mutation_p.E54G	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	119					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCATAGGTCTCCACACCGAC	0.572																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(385-387)gAg>gGg		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						99.0	106.0	104.0					2																	220251081		2128	4229	6357	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251081T>C		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.386A>G	2.37:g.220251081T>C	ENSP00000273075:p.Glu129Gly					DNPEP_ENST00000373972.1_Missense_Mutation_p.E54G|DNPEP_ENST00000523282.1_Missense_Mutation_p.E137G	p.E129G	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	606	-		Renal(207;0.0474)	119					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.386A>G	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	T	31	5.100283	0.94245	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206	.	.	.	5.25	5.25	0.73442	Peptidase M18, domain 2 (1);	0.048962	0.85682	D	0.000000	D	0.90580	0.7047	H	0.98721	4.31	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.83275	0.981;0.979;0.971;0.996;0.981	D	0.94313	0.7547	9	0.87932	D	0	-14.7781	15.1664	0.72828	0.0:0.0:0.0:1.0	.	137;129;137;119;129	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	G	129;129;54;137;137;115;129;129;54;54	.	ENSP00000273075:E129G	E	-	2	0	DNPEP	219959325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.632000	0.83247	1.988000	0.58038	0.459000	0.35465	GAG		0.572	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		8	84	0	0	0	1	0	8	84				
TXK	7294	broad.mit.edu	37	4	48081962	48081962	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48081962A>C	ENST00000264316.4	-	11	1225	c.1140T>G	c.(1138-1140)taT>taG	p.Y380*	TXK_ENST00000507351.1_Nonsense_Mutation_p.Y35*	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCCTCTCCAGATATTCCATTC	0.358																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(1138-1140)taT>taG		TXK tyrosine kinase							189.0	184.0	185.0					4																	48081962		2203	4300	6503	SO:0001587	stop_gained	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48081962A>C	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1140T>G	4.37:g.48081962A>C	ENSP00000264316:p.Tyr380*					TXK_ENST00000507351.1_Nonsense_Mutation_p.Y35*	p.Y380*	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			11	1225	-			380			Protein kinase.		Q14220	Nonsense_Mutation	SNP	ENST00000264316.4	37	c.1140T>G	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905092	0.92035	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	.	.	.	5.04	-1.33	0.09172	.	0.084950	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3874	0.44148	0.5777:0.0:0.4223:0.0	.	.	.	.	X	380;35	.	ENSP00000264316:Y380X	Y	-	3	2	TXK	47776719	0.950000	0.32346	0.982000	0.44146	0.896000	0.52359	0.099000	0.15210	-0.113000	0.11958	0.459000	0.35465	TAT		0.358	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		5	201	0	0	0	1	0	5	201				
CACNB4	785	broad.mit.edu	37	2	152729007	152729007	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152729007C>T	ENST00000539935.1	-	6	589	c.522G>A	c.(520-522)ggG>ggA	p.G174G	CACNB4_ENST00000534999.1_Splice_Site_p.G140G|CACNB4_ENST00000201943.5_Splice_Site_p.G174G|CACNB4_ENST00000397327.2_Splice_Site_p.G127G|CACNB4_ENST00000427385.1_Splice_Site_p.G156G|CACNB4_ENST00000360283.6_Splice_Site_p.G140G	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	174					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CACTTGATTTCCTAGGATATA	0.383																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.e5-1		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						95.0	93.0	93.0					2																	152729007		1818	4083	5901	SO:0001630	splice_region_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152729007C>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.522-1G>A	2.37:g.152729007C>T						CACNB4_ENST00000397327.2_Splice_Site_p.G127_splice|CACNB4_ENST00000539935.1_Splice_Site_p.G174_splice|CACNB4_ENST00000534999.1_Splice_Site_p.G140_splice|CACNB4_ENST00000427385.1_Splice_Site_p.G156_splice|CACNB4_ENST00000201943.5_Splice_Site_p.G174_splice	p.G140_splice			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	5	677	-			174			SH3.		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Splice_Site	SNP	ENST00000539935.1	37	c.419_splice	CCDS46426.1																																																																																				0.383	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	Silent	27	44	0	0	0	1	0	27	44				
GJA1	2697	broad.mit.edu	37	6	121768220	121768220	+	Missense_Mutation	SNP	G	G	A	rs267606844		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768220G>A	ENST00000282561.3	+	2	384	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	76			R -> H (in HSS; overlapping features with oculodentodigital dysplasia). {ECO:0000269|PubMed:14974090}.|R -> S (in ODDD). {ECO:0000269|PubMed:12457340}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCATGTGCGCTTCTGGGTC	0.463																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33	GRCh37	CM040424	GJA1	M		c.(226-228)cGc>cAc		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						64.0	57.0	59.0					6																	121768220		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768220G>A	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.227G>A	6.37:g.121768220G>A	ENSP00000282561:p.Arg76His						p.R76H	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	384	+			76		R -> H (in HSS; overlapping features with oculodentodigital dysplasia).|R -> S (in ODDD).			B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.227G>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285269	0.80803	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.99483	-5.99	5.5	5.5	0.81552	Connexin, N-terminal (2);	0.230110	0.45867	N	0.000328	D	0.99233	0.9733	M	0.79614	2.46	0.80722	D	1	D	0.59357	0.985	P	0.52109	0.69	D	0.99734	1.1013	10	0.87932	D	0	.	19.3942	0.94598	0.0:0.0:1.0:0.0	.	76	P17302	CXA1_HUMAN	H	60;76	ENSP00000282561:R76H	ENSP00000282561:R76H	R	+	2	0	GJA1	121809919	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.813000	0.99286	2.585000	0.87301	0.557000	0.71058	CGC		0.463	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		22	26	0	0	0	1	0	22	26				
THRB	7068	broad.mit.edu	37	3	24164438	24164438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24164438G>A	ENST00000356447.4	-	10	1607	c.1323C>T	c.(1321-1323)caC>caT	p.H441H	THRB_ENST00000280696.5_Silent_p.H456H|THRB_ENST00000396671.2_Silent_p.H441H|THRB_ENST00000416420.1_Silent_p.H441H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	441	Interaction with NR2F6.|Ligand-binding.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCACCTTCATGTGCAGGAAGC	0.488																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(1321-1323)caC>caT		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						110.0	121.0	117.0					3																	24164438		2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24164438G>A		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.1323C>T	3.37:g.24164438G>A						THRB_ENST00000356447.4_Silent_p.H441H|THRB_ENST00000280696.5_Silent_p.H456H|THRB_ENST00000416420.1_Silent_p.H441H	p.H441H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			11	1671	-			441			Interaction with NR2F6.|Ligand-binding.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.1323C>T	CCDS2641.1																																																																																				0.488	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		13	76	0	0	0	1	0	13	76				
PSMA7	5688	broad.mit.edu	37	20	60718345	60718345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60718345G>A	ENST00000370873.4	-	1	141	c.15C>T	c.(13-15)cgC>cgT	p.R5R	SS18L1_ENST00000331758.3_5'Flank|PSMA7_ENST00000484488.1_5'UTR|SS18L1_ENST00000421564.1_5'Flank|PSMA7_ENST00000370861.1_5'Flank|PSMA7_ENST00000370858.3_Silent_p.R5R	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CGGTGATGGCGCGGTCGTAGC	0.736																																						ENST00000370873.4																			0				large_intestine(1)|lung(2)	3						c.(13-15)cgC>cgT		proteasome (prosome, macropain) subunit, alpha type, 7							8.0	10.0	9.0					20																	60718345		2115	4190	6305	SO:0001819	synonymous_variant	5688				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr20:60718345G>A	AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.15C>T	20.37:g.60718345G>A						PSMA7_ENST00000370858.3_Silent_p.R5R|PSMA7_ENST00000484488.1_5'UTR	p.R5R	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		1	141	-	Breast(26;3.97e-09)		5					B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Silent	SNP	ENST00000370873.4	37	c.15C>T	CCDS13489.1																																																																																				0.736	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792		4	2	0	0	0	1	0	4	2				
AKAP6	9472	broad.mit.edu	37	14	33293206	33293206	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293206A>G	ENST00000280979.4	+	13	6357	c.6187A>G	c.(6187-6189)Atc>Gtc	p.I2063V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2063	PKA-RII subunit binding domain.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTTAAGGAAATCATTGACAT	0.398																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(6187-6189)Atc>Gtc		A kinase (PRKA) anchor protein 6							66.0	64.0	64.0					14																	33293206		2201	4300	6501	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293206A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6187A>G	14.37:g.33293206A>G	ENSP00000280979:p.Ile2063Val					AKAP6_ENST00000557272.1_Intron	p.I2063V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6357	+	Breast(36;0.0388)|Prostate(35;0.15)		2063			PKA-RII subunit binding domain.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6187A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456574	0.84317	.	.	ENSG00000151320	ENST00000280979	T	0.51817	0.69	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.71581	2.175	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.71652	-0.4528	10	0.87932	D	0	-12.8611	16.5582	0.84512	1.0:0.0:0.0:0.0	.	2063	Q13023	AKAP6_HUMAN	V	2063	ENSP00000280979:I2063V	ENSP00000280979:I2063V	I	+	1	0	AKAP6	32362957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.207000	0.95064	2.308000	0.77769	0.533000	0.62120	ATC		0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		27	34	0	0	0	1	0	27	34				
PDGFRA	5156	broad.mit.edu	37	4	55156518	55156518	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55156518C>T	ENST00000257290.5	+	22	3250	c.2919C>T	c.(2917-2919)gaC>gaT	p.D973D	FIP1L1_ENST00000507166.1_Silent_p.D733D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	973					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAAGAGTGACCATCCTGCTG	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2917-2919)gaC>gaT		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						110.0	101.0	104.0					4																	55156518		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156518C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2919C>T	4.37:g.55156518C>T		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Silent_p.D733D	p.D973D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3250	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		973					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2919C>T	CCDS3495.1																																																																																				0.418	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		19	49	0	0	0	1	0	19	49				
SLMO1	10650	broad.mit.edu	37	18	12429359	12429359	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12429359C>A	ENST00000440960.1	+	6	556	c.476C>A	c.(475-477)gCt>gAt	p.A159D	SLMO1_ENST00000592149.1_Missense_Mutation_p.A138D|SLMO1_ENST00000587735.1_Missense_Mutation_p.A69D|SLMO1_ENST00000336990.4_Missense_Mutation_p.A159D|SLMO1_ENST00000590956.1_Missense_Mutation_p.A69D	NM_001142405.1	NP_001135877.1	Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	159	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)	1						GGGTGGGCTGCTATCGAGTGG	0.527																																						ENST00000592149.1																			0				endometrium(1)	1						c.(412-414)gCt>gAt		slowmo homolog 1 (Drosophila)							142.0	107.0	119.0					18																	12429359		2203	4300	6503	SO:0001583	missense	10650							g.chr18:12429359C>A	AK056046	CCDS11860.1	18p11.21	2007-02-20	2007-02-06	2007-02-06	ENSG00000141391	ENSG00000141391			24639	protein-coding gene	gene with protein product	"""erythroid differentiation and denucleation factor 1"""		"""chromosome 18 open reading frame 43"""	C18orf43			Standard	NM_006553		Approved	HFL-EDDG1, FLJ31484, PRELID3A	uc010wzu.2	Q96N28	OTTHUMG00000131694	ENST00000440960.1:c.476C>A	18.37:g.12429359C>A	ENSP00000404700:p.Ala159Asp					SLMO1_ENST00000587735.1_Missense_Mutation_p.A69D|SLMO1_ENST00000440960.1_Missense_Mutation_p.A159D|SLMO1_ENST00000336990.4_Missense_Mutation_p.A159D|SLMO1_ENST00000590956.1_Missense_Mutation_p.A69D	p.A138D			Q96N28	SLMO1_HUMAN			5	836	+			159			PRELI/MSF1.		B0YJ10|B4E0C9|D3DUJ1|Q6AHX2	Missense_Mutation	SNP	ENST00000440960.1	37	c.413C>A	CCDS11860.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786219	0.70337	.	.	ENSG00000141391	ENST00000440960;ENST00000336990	T;T	0.18174	2.23;2.23	5.38	5.38	0.77491	PRELI/MSF1 (2);	0.056702	0.64402	D	0.000001	T	0.51075	0.1653	M	0.88450	2.955	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.60352	-0.7280	10	0.87932	D	0	-0.9047	19.1396	0.93443	0.0:1.0:0.0:0.0	.	159	Q96N28	SLMO1_HUMAN	D	159	ENSP00000404700:A159D;ENSP00000338988:A159D	ENSP00000338988:A159D	A	+	2	0	SLMO1	12419359	1.000000	0.71417	0.993000	0.49108	0.004000	0.04260	6.739000	0.74827	2.521000	0.84997	0.462000	0.41574	GCT		0.527	SLMO1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254602.2	NM_006553		16	17	1	0	1.15919e-05	1	1.31461e-05	16	17				
ITPRIP	85450	broad.mit.edu	37	10	106074366	106074366	+	Missense_Mutation	SNP	G	G	A	rs201488821		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074366G>A	ENST00000337478.1	-	2	1615	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.R482C|ITPRIP_ENST00000278071.2_Missense_Mutation_p.R482C	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	482						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGCACCTTGCGGTTGCCGATG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19195	0.0		0.0	False		,,,				2504	0.0					ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(1444-1446)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor interacting protein		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	64.0	63.0		1444	4.2	1.0	10		63	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ITPRIP	NM_033397.2	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	482/548	106074366	2,13004	2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106074366G>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1444C>T	10.37:g.106074366G>A	ENSP00000337178:p.Arg482Cys					ITPRIP_ENST00000358187.2_Missense_Mutation_p.R482C|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R482C	p.R482C	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1896	-			482					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.1444C>T	CCDS7557.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.22	1.872262	0.33069	2.27E-4	1.16E-4	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.24151	1.87;1.87;1.87	5.12	4.21	0.49690	.	0.568394	0.20094	N	0.099372	T	0.20373	0.0490	L	0.44542	1.39	0.30988	N	0.721734	B	0.17465	0.022	B	0.12837	0.008	T	0.11494	-1.0585	10	0.52906	T	0.07	-16.2959	6.4536	0.21918	0.0759:0.1361:0.6627:0.1252	.	482	Q8IWB1	IPRI_HUMAN	C	482	ENSP00000337178:R482C;ENSP00000278071:R482C;ENSP00000350915:R482C	ENSP00000278071:R482C	R	-	1	0	ITPRIP	106064356	0.991000	0.36638	0.998000	0.56505	0.254000	0.26022	1.707000	0.37888	1.279000	0.44446	0.561000	0.74099	CGC		0.622	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		19	90	0	0	0	1	0	19	90				
MYLK	4638	broad.mit.edu	37	3	123451899	123451899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123451899C>T	ENST00000475616.1	-	8	1359	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	MYLK_ENST00000359169.1_Missense_Mutation_p.V454M|MYLK_ENST00000360772.3_Missense_Mutation_p.V454M|MYLK_ENST00000360304.3_Missense_Mutation_p.V454M|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	454	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCTCCTCACGGGGGTGCCT	0.577																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1360-1362)Gtg>Atg		myosin light chain kinase							58.0	51.0	53.0					3																	123451899		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123451899C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1360G>A	3.37:g.123451899C>T	ENSP00000418335:p.Val454Met					MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.V454M|MYLK_ENST00000359169.1_Missense_Mutation_p.V454M|MYLK_ENST00000475616.1_Missense_Mutation_p.V454M	p.V454M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	12	1738	-		Lung NSC(201;0.0496)	454			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1360G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268206	0.23136	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.42	1.38	0.22167	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40067	0.1102	N	0.17312	0.475	0.58432	D	0.999999	P;P;P	0.40602	0.676;0.676;0.723	B;B;B	0.33339	0.109;0.101;0.162	T	0.13980	-1.0489	9	0.41790	T	0.15	.	3.8563	0.08976	0.1126:0.5381:0.1916:0.1578	.	454;454;454	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	M	454	ENSP00000354004:V454M;ENSP00000353452:V454M;ENSP00000352088:V454M;ENSP00000418335:V454M	ENSP00000352088:V454M	V	-	1	0	MYLK	124934589	0.000000	0.05858	0.455000	0.27031	0.326000	0.28443	-0.540000	0.06106	0.391000	0.25143	0.655000	0.94253	GTG		0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		11	14	0	0	0	1	0	11	14				
MOCOS	55034	broad.mit.edu	37	18	33795492	33795492	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33795492G>A	ENST00000261326.5	+	8	1370	c.1349G>A	c.(1348-1350)tGt>tAt	p.C450Y		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGTCATGTCTGTGGGGACAAT	0.468																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1348-1350)tGt>tAt		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						52.0	53.0	53.0					18																	33795492		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795492G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1349G>A	18.37:g.33795492G>A	ENSP00000261326:p.Cys450Tyr						p.C450Y	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			8	1370	+			450						Missense_Mutation	SNP	ENST00000261326.5	37	c.1349G>A	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103632	0.56291	.	.	ENSG00000075643	ENST00000261326	T	0.20881	2.04	5.45	5.45	0.79879	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	H	0.95611	3.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73222	-0.4051	10	0.87932	D	0	-16.5586	16.7755	0.85550	0.0:0.0:1.0:0.0	.	450	Q96EN8	MOCOS_HUMAN	Y	450	ENSP00000261326:C450Y	ENSP00000261326:C450Y	C	+	2	0	MOCOS	32049490	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	9.827000	0.99397	2.554000	0.86153	0.561000	0.74099	TGT		0.468	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			9	19	0	0	0	1	0	9	19				
HSF5	124535	broad.mit.edu	37	17	56557567	56557567	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56557567G>T	ENST00000323777.3	-	2	721	c.612C>A	c.(610-612)tcC>tcA	p.S204S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	204					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGATACACAGGAGTAAGGAG	0.448																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(610-612)tcC>tcA		heat shock transcription factor family member 5							92.0	85.0	88.0					17																	56557567		2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557567G>T	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.612C>A	17.37:g.56557567G>T							p.S204S	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	721	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		204					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.612C>A	CCDS32690.1																																																																																				0.448	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		8	63	1	0	7.48243e-07	1	8.70085e-07	8	63				
SNHG14	104472715	broad.mit.edu	37	15	25488588	25488588	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25488588G>T	ENST00000453082.2	+	0	2216				SNORD115-41_ENST00000363608.1_RNA|SNORD115-39_ENST00000363694.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGAGACGGGAGGAAGACTTGT	0.602																																						ENST00000453082.2																			0																																																			0							g.chr15:25488588G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25488588G>T								NR_003343.1						0	2216	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.602	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			7	8	1	0	0.00198382	1	0.00210581	7	8				
PXYLP1	92370	broad.mit.edu	37	3	140997342	140997342	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140997342G>T	ENST00000286353.4	+	3	375	c.238G>T	c.(238-240)Ggt>Tgt	p.G80C	ACPL2_ENST00000393010.2_Splice_Site_p.G80C|ACPL2_ENST00000508812.1_Splice_Site_p.G71C|ACPL2_ENST00000504264.1_Splice_Site_p.G63C|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Splice_Site_p.G42C|ACPL2_ENST00000393007.1_Splice_Site_p.G64C	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		80						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGCATGGAAGGTAGGCCTGA	0.567																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.e2+1		acid phosphatase-like 2							104.0	99.0	101.0					3																	140997342		2203	4300	6503	SO:0001630	splice_region_variant	92370					extracellular region	acid phosphatase activity	g.chr3:140997342G>T																												ENST00000286353.4:c.238+1G>T	3.37:g.140997342G>T						ACPL2_ENST00000504264.1_Splice_Site_p.G63_splice|ACPL2_ENST00000393010.2_Splice_Site_p.G80_splice|ACPL2_ENST00000393007.1_Splice_Site_p.G64_splice|ACPL2_ENST00000286353.4_Splice_Site_p.G80_splice|ACPL2_ENST00000502783.1_Splice_Site_p.G42_splice|RP11-438D8.2_ENST00000507698.1_RNA	p.G71_splice			Q8TE99	ACPL2_HUMAN			2	2118	+			80					D3DNF5|Q49AJ2|W0TR04	Splice_Site	SNP	ENST00000286353.4	37	c.211_splice	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711181	0.89112	.	.	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000502783;ENST00000393010;ENST00000514680;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88376	0.2998	10	0.72032	D	0.01	.	16.8585	0.86011	0.0:0.0:1.0:0.0	.	63;80	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	C	80;80;42;80;80;42;63;71;64	ENSP00000421271:G80C;ENSP00000286353:G80C;ENSP00000422558:G42C;ENSP00000376733:G80C;ENSP00000423702:G42C;ENSP00000426877:G63C;ENSP00000422901:G71C;ENSP00000376731:G64C	ENSP00000286353:G80C	G	+	1	0	ACPL2	142480032	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.059000	0.89462	2.592000	0.87571	0.561000	0.74099	GGT		0.567	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2		Missense_Mutation	4	60	1	0	0.014758	1	0.0152625	4	60				
SYNJ2	8871	broad.mit.edu	37	6	158454662	158454662	+	Missense_Mutation	SNP	C	C	T	rs538435329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158454662C>T	ENST00000355585.4	+	4	736	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R221C|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R221C|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R170C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	221	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTCCACACCCGTGGCGTGAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		22248	0.0		0.0	False		,,,				2504	0.001					ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(661-663)Cgt>Tgt		synaptojanin 2							91.0	73.0	79.0					6																	158454662		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158454662C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.661C>T	6.37:g.158454662C>T	ENSP00000347792:p.Arg221Cys					SYNJ2_ENST00000449859.2_Missense_Mutation_p.R170C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R221C|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R221C	p.R221C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	4	736	+			221			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.661C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276172	0.59649	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.35	4.45	0.53987	Synaptojanin, N-terminal (2);	0.000000	0.64402	D	0.000009	D	0.91730	0.7385	H	0.99404	4.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.94323	0.7555	10	0.87932	D	0	.	15.5747	0.76368	0.1381:0.8619:0.0:0.0	.	170;221;221;221	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	C	221;221;221;170	ENSP00000356089:R221C;ENSP00000356088:R221C;ENSP00000347792:R221C;ENSP00000388371:R170C	ENSP00000347792:R221C	R	+	1	0	SYNJ2	158374650	0.997000	0.39634	0.970000	0.41538	0.118000	0.20060	3.427000	0.52785	2.789000	0.95967	0.655000	0.94253	CGT		0.627	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			13	19	0	0	0	1	0	13	19				
ZNF106	64397	broad.mit.edu	37	15	42734288	42734288	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42734288T>C	ENST00000263805.4	-	7	4003	c.3677A>G	c.(3676-3678)gAa>gGa	p.E1226G	ZNF106_ENST00000565380.1_Missense_Mutation_p.E454G|ZNF106_ENST00000565611.1_Missense_Mutation_p.E411G	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1226					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTCCAGTAATTCCTTGGACAC	0.438																																						ENST00000263805.4																			0											c.(3676-3678)gAa>gGa		zinc finger protein 106							153.0	139.0	144.0					15																	42734288		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42734288T>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3677A>G	15.37:g.42734288T>C	ENSP00000263805:p.Glu1226Gly					ZNF106_ENST00000565611.1_Missense_Mutation_p.E411G|ZNF106_ENST00000565380.1_Missense_Mutation_p.E454G	p.E1226G	NM_022473.1	NP_071918.1					7	4003	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.3677A>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965454	0.34659	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.58506	0.33	5.33	4.2	0.49525	.	0.067079	0.56097	N	0.000030	T	0.46852	0.1414	L	0.51422	1.61	0.38659	D	0.952036	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.40440	-0.9563	10	0.23891	T	0.37	-14.3917	8.0314	0.30467	0.0:0.0978:0.0:0.9022	.	454;1226;454	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	G	1226;454	ENSP00000263805:E1226G	ENSP00000263805:E1226G	E	-	2	0	ZFP106	40521580	0.999000	0.42202	0.999000	0.59377	0.587000	0.36485	0.878000	0.28126	1.022000	0.39626	0.533000	0.62120	GAA		0.438	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		14	140	0	0	0	1	0	14	140				
NBPF1	55672	broad.mit.edu	37	1	16901708	16901708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901708G>A	ENST00000430580.2	-	20	3023	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	NBPF1_ENST00000287968.8_Silent_p.D77D|NBPF1_ENST00000432949.1_Silent_p.D170D|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	712	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.		H -> D (in dbSNP:rs3901680). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCTTCATCGTCATCGTTGT	0.433																																						ENST00000430580.2																			0											c.(2134-2136)gaC>gaT		neuroblastoma breakpoint family, member 1							153.0	180.0	170.0					1																	16901708		1470	2574	4044	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16901708G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2136C>T	1.37:g.16901708G>A						NBPF1_ENST00000287968.8_Silent_p.D77D|NBPF1_ENST00000432949.1_Silent_p.D170D	p.D712D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	20	3023	-			712		H -> D (in dbSNP:rs3901680).	NBPF 3.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2136C>T																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		27	437	0	0	0	1	0	27	437				
LIMA1	51474	broad.mit.edu	37	12	50571708	50571708	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50571708C>A	ENST00000341247.4	-	11	1568	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D	LIMA1_ENST00000552909.1_Missense_Mutation_p.E312D|LIMA1_ENST00000552823.1_Missense_Mutation_p.E313D|LIMA1_ENST00000552491.1_Missense_Mutation_p.E170D|LIMA1_ENST00000552783.1_Missense_Mutation_p.E314D|LIMA1_ENST00000547825.1_Missense_Mutation_p.E171D|LIMA1_ENST00000394943.3_Missense_Mutation_p.E474D	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	473					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTCCAAAATCTCTTCGTTTT	0.488																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(511-513)gaG>gaT		LIM domain and actin binding 1							170.0	167.0	168.0					12																	50571708		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571708C>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1419G>T	12.37:g.50571708C>A	ENSP00000340184:p.Glu473Asp					LIMA1_ENST00000341247.4_Missense_Mutation_p.E473D|LIMA1_ENST00000552783.1_Missense_Mutation_p.E314D|LIMA1_ENST00000552909.1_Missense_Mutation_p.E312D|LIMA1_ENST00000394943.3_Missense_Mutation_p.E474D|LIMA1_ENST00000552823.1_Missense_Mutation_p.E313D|LIMA1_ENST00000552491.1_Missense_Mutation_p.E170D	p.E171D	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			5	1782	-			473					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.513G>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763824	0.49574	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.86297	-1.34;-1.32;-1.68;-2.1;-1.36;-1.68;-1.7	5.52	2.7	0.31948	.	0.189361	0.53938	N	0.000042	T	0.81536	0.4843	L	0.51422	1.61	0.31373	N	0.679951	B;P;P	0.37061	0.033;0.58;0.55	B;B;B	0.39771	0.04;0.309;0.248	T	0.77552	-0.2545	10	0.42905	T	0.14	.	4.6156	0.12424	0.0:0.4992:0.1536:0.3472	.	483;473;312	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	D	170;171;313;474;473;314;312;392	ENSP00000448463:E170D;ENSP00000448706:E171D;ENSP00000450266:E313D;ENSP00000378400:E474D;ENSP00000340184:E473D;ENSP00000448779:E314D;ENSP00000450087:E312D	ENSP00000340184:E473D	E	-	3	2	LIMA1	48857975	0.406000	0.25344	0.780000	0.31762	0.696000	0.40369	0.436000	0.21526	0.372000	0.24591	-0.172000	0.13284	GAG		0.488	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		6	135	1	0	1.12685e-05	1	1.27857e-05	6	135				
RHBDF1	64285	broad.mit.edu	37	16	111407	111407	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:111407C>A	ENST00000262316.6	-	10	1513	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	RHBDF1_ENST00000454039.2_Missense_Mutation_p.E457D	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	457					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCAGAAGTTCTCCTGCTGCA	0.731																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1369-1371)gaG>gaT		rhomboid 5 homolog 1 (Drosophila)							19.0	18.0	19.0					16																	111407		2200	4294	6494	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:111407C>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1371G>T	16.37:g.111407C>A	ENSP00000262316:p.Glu457Asp					RHBDF1_ENST00000454039.2_Missense_Mutation_p.E457D	p.E457D	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			10	1513	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	457					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.1371G>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	19.53	3.845130	0.71603	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.65732	0.73;-0.17	4.93	1.87	0.25490	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	N	0.05510	-0.035	0.53005	D	0.999966	D;D;B	0.61697	0.967;0.99;0.049	P;P;B	0.55391	0.775;0.764;0.016	T	0.34700	-0.9818	10	0.25751	T	0.34	-33.2578	7.7779	0.29048	0.0:0.6482:0.0:0.3518	.	457;480;457	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	D	457	ENSP00000262316:E457D;ENSP00000392133:E457D	ENSP00000262316:E457D	E	-	3	2	RHBDF1	51407	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.872000	0.28037	0.604000	0.29930	0.313000	0.20887	GAG		0.731	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		6	18	1	0	0.0215528	1	0.0221649	6	18				
PTPN21	11099	broad.mit.edu	37	14	88967684	88967684	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88967684G>A	ENST00000556564.1	-	7	900	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L206L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	206	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCATGTACAGCATTTCAGCA	0.443																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(616-618)Ctg>Ttg		protein tyrosine phosphatase, non-receptor type 21							157.0	157.0	157.0					14																	88967684		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88967684G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.616C>T	14.37:g.88967684G>A						RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Silent_p.L206L|PTPN21_ENST00000554628.1_5'UTR	p.L206L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			7	900	-			206			FERM.			Silent	SNP	ENST00000556564.1	37	c.616C>T	CCDS9884.1																																																																																				0.443	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	107	0	0	0	1	0	8	107				
DAW1	164781	broad.mit.edu	37	2	228755970	228755970	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228755970G>T	ENST00000309931.2	+	4	341		c.e4-1		DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000373666.2_Splice_Site|DAW1_ENST00000472604.1_Splice_Site	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1							cilium (GO:0005929)											TTTCACTGAAGGTTCTCAAAG	0.299																																						ENST00000373666.2																			0											c.e4-1		dynein assembly factor with WDR repeat domains 1							131.0	134.0	133.0					2																	228755970		2202	4300	6502	SO:0001630	splice_region_variant	164781							g.chr2:228755970G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.259-1G>T	2.37:g.228755970G>T						DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000472604.1_Splice_Site|DAW1_ENST00000309931.2_Splice_Site								4	894	+								Q6ZRY1|Q8N776	Splice_Site	SNP	ENST00000309931.2	37		CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951637	0.73787	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3197	0.90234	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR69	228464214	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.197000	0.89727	2.656000	0.90262	0.655000	0.94253	.		0.299	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	Intron	6	74	1	0	3.59834e-05	1	4.01776e-05	6	74				
PABPC3	5042	broad.mit.edu	37	13	25671892	25671892	+	Missense_Mutation	SNP	G	G	A	rs373694657		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25671892G>A	ENST00000281589.3	+	1	1593	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	519					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCAACATCGTAATGCACAG	0.537																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1555-1557)cGt>cAt		poly(A) binding protein, cytoplasmic 3							84.0	77.0	79.0					13																	25671892		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671892G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1556G>A	13.37:g.25671892G>A	ENSP00000281589:p.Arg519His						p.R519H	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1593	+		Lung SC(185;0.0225)|Breast(139;0.0602)	519					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1556G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789968	0.31685	.	.	ENSG00000151846	ENST00000281589	T	0.44881	0.91	1.0	1.0	0.19881	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.42682	U	0.000661	T	0.07863	0.0197	N	0.00101	-2.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	10	0.17832	T	0.49	.	5.1392	0.14950	0.0:0.0:0.3024:0.6976	.	519	Q9H361	PABP3_HUMAN	H	519	ENSP00000281589:R519H	ENSP00000281589:R519H	R	+	2	0	PABPC3	24569892	1.000000	0.71417	0.063000	0.19743	0.019000	0.09904	3.380000	0.52448	-0.102000	0.12197	-0.525000	0.04345	CGT		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		18	46	0	0	0	1	0	18	46				
SELE	6401	broad.mit.edu	37	1	169698503	169698503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169698503C>T	ENST00000333360.7	-	7	1053	c.914G>A	c.(913-915)aGg>aAg	p.R305K	SELE_ENST00000367782.4_Missense_Mutation_p.R305K|SELE_ENST00000367776.1_Missense_Mutation_p.R305K|SELE_ENST00000367774.1_Missense_Mutation_p.R305K|SELE_ENST00000367780.4_Missense_Mutation_p.R243K|SELE_ENST00000367775.1_Missense_Mutation_p.R243K|SELE_ENST00000367777.1_Missense_Mutation_p.R305K|SELE_ENST00000367781.4_Missense_Mutation_p.R305K|SELE_ENST00000367779.4_Missense_Mutation_p.R305K|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	305	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCGGACGGCCCTGCATGTCAC	0.498																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(913-915)aGg>aAg		selectin E							51.0	47.0	48.0					1																	169698503		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698503C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.914G>A	1.37:g.169698503C>T	ENSP00000331736:p.Arg305Lys					SELE_ENST00000367782.4_Missense_Mutation_p.R305K|SELE_ENST00000367781.4_Missense_Mutation_p.R305K|SELE_ENST00000367776.1_Missense_Mutation_p.R305K|SELE_ENST00000367774.1_Missense_Mutation_p.R305K|SELE_ENST00000367779.4_Missense_Mutation_p.R305K|SELE_ENST00000367777.1_Missense_Mutation_p.R305K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.R243K|SELE_ENST00000367775.1_Missense_Mutation_p.R243K	p.R305K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			7	1053	-	all_hematologic(923;0.208)		305			Sushi 3.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.914G>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	0.269	-0.993920	0.02145	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.13	-6.48	0.01896	Complement control module (2);Sushi/SCR/CCP (2);	1.017130	0.07888	N	0.970697	T	0.12050	0.0293	N	0.05259	-0.085	0.09310	N	1	B	0.14012	0.009	B	0.24701	0.055	T	0.21895	-1.0232	10	0.09590	T	0.72	0.0292	7.0741	0.25195	0.0:0.2085:0.2235:0.568	.	305	P16581	LYAM2_HUMAN	K	305;305;243;305;305;305;243;305;305	ENSP00000356755:R305K;ENSP00000356756:R305K;ENSP00000356754:R243K;ENSP00000356753:R305K;ENSP00000331736:R305K;ENSP00000356751:R305K;ENSP00000356749:R243K;ENSP00000356750:R305K;ENSP00000356748:R305K	ENSP00000331736:R305K	R	-	2	0	SELE	167965127	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.107000	0.03316	-1.055000	0.03209	-0.181000	0.13052	AGG		0.498	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		10	23	0	0	0	1	0	10	23				
PLA2G4D	283748	broad.mit.edu	37	15	42371773	42371773	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42371773G>T	ENST00000290472.3	-	13	1373	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	427	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCGCCCACAGGTCCACAAAG	0.697																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1279-1281)Ctg>Atg		phospholipase A2, group IVD (cytosolic)							27.0	29.0	28.0					15																	42371773		2202	4297	6499	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42371773G>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1279C>A	15.37:g.42371773G>T	ENSP00000290472:p.Leu427Met						p.L427M	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	13	1373	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	427			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1279C>A	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280287	0.59758	.	.	ENSG00000159337	ENST00000290472	T	0.13420	2.59	5.0	5.0	0.66597	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.103551	0.39341	N	0.001385	T	0.24044	0.0582	M	0.69463	2.115	0.34339	D	0.68856	P	0.45240	0.854	P	0.51895	0.683	T	0.31475	-0.9942	10	0.59425	D	0.04	-11.7819	7.8999	0.29729	0.0833:0.0:0.7552:0.1615	.	427	Q86XP0	PA24D_HUMAN	M	427	ENSP00000290472:L427M	ENSP00000290472:L427M	L	-	1	2	PLA2G4D	40159065	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.710000	0.37920	2.342000	0.79632	0.561000	0.74099	CTG		0.697	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		5	7	1	0	0.014758	1	0.0152625	5	7				
CSMD1	64478	broad.mit.edu	37	8	2876089	2876089	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2876089T>C	ENST00000520002.1	-	53	8497	c.7942A>G	c.(7942-7944)Acg>Gcg	p.T2648A	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2648A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647A|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2648	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTTGCACGTAAATATAGCT	0.483																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(7942-7944)Acg>Gcg		CUB and Sushi multiple domains 1							172.0	169.0	170.0					8																	2876089		1971	4153	6124	SO:0001583	missense	64478					integral to membrane		g.chr8:2876089T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7942A>G	8.37:g.2876089T>C	ENSP00000430733:p.Thr2648Ala					CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647A|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2648A	p.T2648A			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8497	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2648			Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7942A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.897|5.897	0.349530|0.349530	0.11182|0.11182	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.65916|.	-0.18;-0.18|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Complement control module (2);Sushi/SCR/CCP (3);|.	0.071832|.	0.56097|.	D|.	0.000030|.	T|T	0.50684|0.50684	0.1630|0.1630	L|L	0.42487|0.42487	1.325|1.325	0.30643|0.30643	N|N	0.756262|0.756262	B;B|.	0.30068|.	0.267;0.008|.	B;B|.	0.31290|.	0.127;0.015|.	T|T	0.53244|0.53244	-0.8466|-0.8466	10|5	0.48119|.	T|.	0.1|.	.|.	15.3568|15.3568	0.74434|0.74434	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2648;2648|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	A|C	2648;2509;2647|2064	ENSP00000430733:T2648A;ENSP00000441462:T2647A|.	ENSP00000320445:T2509A|.	T|Y	-|-	1|2	0|0	CSMD1|CSMD1	2863496|2863496	1.000000|1.000000	0.71417|0.71417	0.173000|0.173000	0.22940|0.22940	0.006000|0.006000	0.05464|0.05464	3.805000|3.805000	0.55575|0.55575	2.085000|2.085000	0.62840|0.62840	0.533000|0.533000	0.62120|0.62120	ACG|TAC		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	180	0	0	0	1	0	5	180				
GFRA2	2675	broad.mit.edu	37	8	21560348	21560348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21560348G>A	ENST00000524240.1	-	7	1837	c.1187C>T	c.(1186-1188)aCc>aTc	p.T396I	GFRA2_ENST00000518077.1_Missense_Mutation_p.T263I|GFRA2_ENST00000400782.4_Missense_Mutation_p.T291I|GFRA2_ENST00000517328.1_Missense_Mutation_p.T396I	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	396					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GATGACACTGGTCCCCAAGCT	0.622																																						ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(1186-1188)aCc>aTc		GDNF family receptor alpha 2							86.0	94.0	92.0					8																	21560348		2108	4218	6326	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21560348G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1187C>T	8.37:g.21560348G>A	ENSP00000428518:p.Thr396Ile					GFRA2_ENST00000518077.1_Missense_Mutation_p.T263I|GFRA2_ENST00000517328.1_Missense_Mutation_p.T396I|GFRA2_ENST00000400782.4_Missense_Mutation_p.T291I	p.T396I	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	7	1837	-			396					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.1187C>T	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718454	0.48622	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.32988	1.86;1.44;1.86;1.43;1.44	4.88	4.88	0.63580	.	0.218537	0.36338	N	0.002645	T	0.35219	0.0924	L	0.49126	1.545	0.36736	D	0.88197	D;D;P	0.53619	0.96;0.961;0.868	P;P;B	0.49637	0.59;0.617;0.312	T	0.42816	-0.9429	10	0.66056	D	0.02	-25.0738	9.5983	0.39587	0.097:0.0:0.903:0.0	.	263;291;396	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	I	396;291;396;263;291	ENSP00000428518:T396I;ENSP00000383592:T291I;ENSP00000429445:T396I;ENSP00000429206:T263I;ENSP00000429979:T291I	ENSP00000383592:T291I	T	-	2	0	GFRA2	21604628	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.457000	0.53007	2.411000	0.81874	0.561000	0.74099	ACC		0.622	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		13	33	0	0	0	1	0	13	33				
COL22A1	169044	broad.mit.edu	37	8	139788214	139788214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139788214C>A	ENST00000303045.6	-	16	2244	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E600*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	600	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTTTCTCCTCGAGTT	0.483										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1798-1800)Gaa>Taa		collagen, type XXII, alpha 1							317.0	269.0	285.0					8																	139788214		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139788214C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1798G>T	8.37:g.139788214C>A	ENSP00000303153:p.Glu600*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E600*	p.E600*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		16	2244	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		600			Collagen-like 3.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.1798G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	43	10.372977	0.99393	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	.	.	.	4.41	3.52	0.40303	.	0.393405	0.21081	N	0.080482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	10.4461	0.44495	0.0:0.8031:0.1969:0.0	.	.	.	.	X	600	.	ENSP00000303153:E600X	E	-	1	0	COL22A1	139857396	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.072000	0.41510	1.420000	0.47138	0.655000	0.94253	GAA		0.483	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		26	62	1	0	9.39395e-14	1	1.19386e-13	26	62				
ZNF24	7572	broad.mit.edu	37	18	32919925	32919925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32919925G>A	ENST00000261332.6	-	3	615	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ZNF24_ENST00000399061.3_Nonsense_Mutation_p.R146*|ZNF24_ENST00000589881.1_Nonsense_Mutation_p.R146*	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	146					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCCCGTTTTCGTCGACGGAGA	0.428																																					Colon(42;769 913 8916 19469 46270)	ENST00000589881.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(436-438)Cga>Tga		zinc finger protein 24							93.0	88.0	89.0					18																	32919925		2203	4300	6503	SO:0001587	stop_gained	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32919925G>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.436C>T	18.37:g.32919925G>A	ENSP00000261332:p.Arg146*					ZNF24_ENST00000399061.3_Nonsense_Mutation_p.R146*|ZNF24_ENST00000261332.6_Nonsense_Mutation_p.R146*	p.R146*			P17028	ZNF24_HUMAN			2	439	-			146					O14754|Q53YE4|Q6ICR5|Q8IZN4	Nonsense_Mutation	SNP	ENST00000261332.6	37	c.436C>T	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750675	0.96890	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	.	.	.	5.5	2.7	0.31948	.	0.297176	0.24662	N	0.036630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	4.6141	0.12417	0.1792:0.0:0.6446:0.1761	.	.	.	.	X	146	.	ENSP00000261332:R146X	R	-	1	2	ZNF24	31173923	0.984000	0.35163	0.994000	0.49952	0.999000	0.98932	2.657000	0.46724	0.801000	0.34066	0.655000	0.94253	CGA		0.428	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		33	41	0	0	0	1	0	33	41				
ATP8B4	79895	broad.mit.edu	37	15	50279715	50279715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50279715C>A	ENST00000284509.6	-	10	762	c.621G>T	c.(619-621)aaG>aaT	p.K207N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K207N|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	207						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTATCTAACTTGTTGTTAG	0.403																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(619-621)aaG>aaT		ATPase, class I, type 8B, member 4							103.0	101.0	102.0					15																	50279715		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50279715C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.621G>T	15.37:g.50279715C>A	ENSP00000284509:p.Lys207Asn					ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.K207N	p.K207N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	10	762	-		all_lung(180;0.00183)	207					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.621G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458041	0.63401	.	.	ENSG00000104043	ENST00000284509	T	0.74106	-0.81	5.67	0.317	0.15861	ATPase, P-type, ATPase-associated domain (1);	0.055336	0.64402	D	0.000001	T	0.64260	0.2582	N	0.12746	0.255	0.39644	D	0.97036	D	0.67145	0.996	D	0.68621	0.959	T	0.60357	-0.7279	10	0.15066	T	0.55	.	4.6958	0.12802	0.0:0.3332:0.1607:0.5061	.	207	Q8TF62	AT8B4_HUMAN	N	207	ENSP00000284509:K207N	ENSP00000284509:K207N	K	-	3	2	ATP8B4	48067007	0.832000	0.29368	0.997000	0.53966	0.994000	0.84299	-0.113000	0.10774	0.090000	0.17273	0.655000	0.94253	AAG		0.403	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		7	70	1	0	0.00198382	1	0.00210581	7	70				
SLC37A4	2542	broad.mit.edu	37	11	118898339	118898339	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118898339C>A	ENST00000545985.1	-	6	1380	c.624G>T	c.(622-624)aaG>aaT	p.K208N	SLC37A4_ENST00000538950.1_Splice_Site_p.K135N|SLC37A4_ENST00000330775.7_Splice_Site_p.K207N|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Splice_Site_p.K208N	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	208					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGGCTCACCCTTCTTGCCCT	0.577																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.e6+1		solute carrier family 37 (glucose-6-phosphate transporter), member 4							49.0	53.0	52.0					11																	118898339		2066	4193	6259	SO:0001630	splice_region_variant	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118898339C>A	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.625+1G>T	11.37:g.118898339C>A						SLC37A4_ENST00000330775.7_Splice_Site_p.K207_splice|SLC37A4_ENST00000357590.5_Splice_Site_p.K208_splice|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Splice_Site_p.K135_splice	p.K208_splice	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	6	1380	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	208					O96016|Q5J7V4|Q9UI19|Q9UNS4	Splice_Site	SNP	ENST00000545985.1	37	c.625_splice																																																																																					0.577	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467	Missense_Mutation	14	24	1	0	2.23348e-06	1	2.57349e-06	14	24				
BAG5	9529	broad.mit.edu	37	14	104026381	104026381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104026381C>T	ENST00000445922.2	-	2	1367	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	BAG5_ENST00000337322.4_Missense_Mutation_p.G415E|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.G374E|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	374	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AGACAAGTTTCCAAGGACGTT	0.468																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24						c.(1120-1122)gGa>gAa		BCL2-associated athanogene 5							102.0	112.0	109.0					14																	104026381		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026381C>T	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1121G>A	14.37:g.104026381C>T	ENSP00000391713:p.Gly374Glu					BAG5_ENST00000299204.4_Missense_Mutation_p.G374E|BAG5_ENST00000337322.4_Missense_Mutation_p.G415E|RP11-894P9.2_ENST00000556332.1_RNA	p.G374E	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	1367	-		Melanoma(154;0.155)	374			BAG 5.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.1121G>A	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844225	0.51164	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87729	-2.29;-2.29;-2.29	5.52	4.63	0.57726	BAG domain (3);	0.056720	0.64402	N	0.000001	D	0.87269	0.6135	N	0.17082	0.46	0.80722	D	1	D;B	0.89917	1.0;0.372	D;B	0.97110	1.0;0.109	D	0.85956	0.1467	10	0.28530	T	0.3	-24.0671	14.5001	0.67716	0.0:0.9295:0.0:0.0705	.	374;415	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	E	374;374;415	ENSP00000299204:G374E;ENSP00000391713:G374E;ENSP00000338814:G415E	ENSP00000299204:G374E	G	-	2	0	BAG5	103096134	0.974000	0.33945	0.072000	0.20136	0.586000	0.36452	2.775000	0.47702	1.348000	0.45733	-0.150000	0.13652	GGA		0.468	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			41	70	0	0	0	1	0	41	70				
NEDD4	4734	broad.mit.edu	37	15	56130001	56130001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56130001C>T	ENST00000508342.1	-	20	3804	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	NEDD4_ENST00000338963.2_Missense_Mutation_p.A1097T|NEDD4_ENST00000435532.3_Missense_Mutation_p.A750T|NEDD4_ENST00000506154.1_Missense_Mutation_p.A1153T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1169	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTAAAAGCAGCCATTTGCTTC	0.328																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3505-3507)Gct>Act		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							90.0	84.0	86.0					15																	56130001		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56130001C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3505G>A	15.37:g.56130001C>T	ENSP00000424827:p.Ala1169Thr					NEDD4_ENST00000435532.3_Missense_Mutation_p.A750T|NEDD4_ENST00000506154.1_Missense_Mutation_p.A1153T|NEDD4_ENST00000338963.2_Missense_Mutation_p.A1097T	p.A1169T			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	20	3804	-			1169			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3505G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.54|11.54	1.669567|1.669567	0.29693|0.29693	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	5.8|5.8	3.69|3.69	0.42338|0.42338	HECT (4);|.	0.098436|.	0.64402|.	D|.	0.000001|.	T|.	0.39989|.	0.1099|.	N|N	0.16743|0.16743	0.435|0.435	0.45914|0.45914	D|D	0.998755|0.998755	B;B;B;B|.	0.23990|.	0.095;0.001;0.014;0.022|.	B;B;B;B|.	0.16289|.	0.015;0.001;0.007;0.013|.	T|.	0.17018|.	-1.0383|.	10|.	0.37606|.	T|.	0.19|.	.|.	10.7331|10.7331	0.46109|0.46109	0.2479:0.682:0.0:0.0701|0.2479:0.682:0.0:0.0701	.|.	1153;750;1169;1097|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	T|X	1169;750;1097;1153|759	ENSP00000424827:A1169T;ENSP00000410613:A750T;ENSP00000345530:A1097T;ENSP00000422705:A1153T|.	ENSP00000345530:A1097T|.	A|W	-|-	1|3	0|0	NEDD4|NEDD4	53917293|53917293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.539000|1.539000	0.36104|0.36104	1.405000|1.405000	0.46838|0.46838	0.650000|0.650000	0.86243|0.86243	GCT|TGG		0.328	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		13	21	0	0	0	1	0	13	21				
UBP1	7342	broad.mit.edu	37	3	33453088	33453088	+	Silent	SNP	G	G	T	rs373414645		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33453088G>T	ENST00000283629.3	-	5	1069	c.540C>A	c.(538-540)acC>acA	p.T180T	UBP1_ENST00000486388.1_5'Flank|RNU7-110P_ENST00000516891.1_RNA|UBP1_ENST00000283628.5_Silent_p.T180T|UBP1_ENST00000447368.2_Silent_p.T180T	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	180					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAAAGCAGAGGTGCGTTTTG	0.368																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(538-540)acC>acA		upstream binding protein 1 (LBP-1a)							122.0	118.0	120.0					3																	33453088		2203	4300	6503	SO:0001819	synonymous_variant	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33453088G>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.540C>A	3.37:g.33453088G>T						UBP1_ENST00000283628.5_Silent_p.T180T|UBP1_ENST00000447368.2_Silent_p.T180T	p.T180T	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			5	1069	-			180					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	c.540C>A	CCDS2659.1																																																																																				0.368	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		10	105	1	0	7.48243e-07	1	8.70085e-07	10	105				
PIWIL3	440822	broad.mit.edu	37	22	25115768	25115768	+	Missense_Mutation	SNP	C	C	A	rs142951647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25115768C>A	ENST00000332271.5	-	20	2895	c.2479G>T	c.(2479-2481)Gat>Tat	p.D827Y	PIWIL3_ENST00000533313.1_Missense_Mutation_p.D709Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D709Y|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	827	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACTGTATCTGGGCTCAAG	0.358																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2479-2481)Gat>Tat		piwi-like RNA-mediated gene silencing 3							99.0	94.0	96.0					22																	25115768		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25115768C>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2479G>T	22.37:g.25115768C>A	ENSP00000330031:p.Asp827Tyr					PIWIL3_ENST00000533313.1_Missense_Mutation_p.D709Y|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D709Y	p.D827Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			20	2895	-			827			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2479G>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669471	0.29693	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.36520	1.25;1.25;1.25	2.81	-0.512	0.11966	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.056142	0.64402	D	0.000002	T	0.68458	0.3003	H	0.97962	4.115	0.26234	N	0.978968	D;P;D	0.89917	1.0;0.871;1.0	D;P;D	0.87578	0.998;0.903;0.992	T	0.62329	-0.6877	10	0.87932	D	0	-11.8474	9.1053	0.36694	0.0:0.6854:0.0:0.3146	.	709;818;827	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Y	827;709;709	ENSP00000330031:D827Y;ENSP00000431843:D709Y;ENSP00000435718:D709Y	ENSP00000330031:D827Y	D	-	1	0	PIWIL3	23445768	0.999000	0.42202	0.000000	0.03702	0.001000	0.01503	4.506000	0.60428	-0.294000	0.08973	-2.069000	0.00389	GAT		0.358	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		22	36	1	0	2.89027e-11	1	3.59474e-11	22	36				
LILRP2	79166	broad.mit.edu	37	19	55221474	55221474	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55221474T>C	ENST00000413439.1	+	0	1254									leukocyte immunoglobulin-like receptor pseudogene 2																		CATGACCTCGTCCAGGGCTCT	0.642																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221474T>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221474T>C														0	1254	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.642	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		3	36	0	0	0	1	0	3	36				
SPDYE1	285955	broad.mit.edu	37	7	44044819	44044819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44044819C>T	ENST00000258704.3	+	4	762	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	209										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TCATTTCTTCCTGGCTCTGTG	0.507																																						ENST00000258704.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(625-627)Ctg>Ttg		speedy/RINGO cell cycle regulator family member E1							153.0	154.0	154.0					7																	44044819		2203	4298	6501	SO:0001819	synonymous_variant	285955							g.chr7:44044819C>T	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.625C>T	7.37:g.44044819C>T						AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA	p.L209L	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN			4	762	+			209					Q9NTH5	Silent	SNP	ENST00000258704.3	37	c.625C>T	CCDS5475.1																																																																																				0.507	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		80	212	0	0	0	1	0	80	212				
OGN	4969	broad.mit.edu	37	9	95155416	95155416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95155416G>A	ENST00000262551.4	-	4	799	c.379C>T	c.(379-381)Cga>Tga	p.R127*	OGN_ENST00000375561.5_Nonsense_Mutation_p.R127*|CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	127					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTGTTGAATCGTGCGTAAAGA	0.358																																						ENST00000262551.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(379-381)Cga>Tga		osteoglycin							118.0	103.0	108.0					9																	95155416		2203	4300	6503	SO:0001587	stop_gained	4969					extracellular space|proteinaceous extracellular matrix	growth factor activity	g.chr9:95155416G>A	AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.379C>T	9.37:g.95155416G>A	ENSP00000262551:p.Arg127*					CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Nonsense_Mutation_p.R127*	p.R127*	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN			4	799	-			127					Q6FIB0|Q9UF90|Q9UNK5	Nonsense_Mutation	SNP	ENST00000262551.4	37	c.379C>T	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506420	0.96386	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	.	.	.	4.98	4.03	0.46877	.	0.058246	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.107	0.65096	0.0:0.0:0.7544:0.2456	.	.	.	.	X	127;127;185	.	ENSP00000262551:R127X	R	-	1	2	OGN	94195237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.652000	0.74377	2.500000	0.84329	0.650000	0.86243	CGA		0.358	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416		6	39	0	0	0	1	0	6	39				
WDR36	134430	broad.mit.edu	37	5	110461365	110461365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110461365C>T	ENST00000513710.2	+	22	2582	c.2578C>T	c.(2578-2580)Cga>Tga	p.R860*	WDR36_ENST00000506538.2_Nonsense_Mutation_p.R860*			Q8NI36	WDR36_HUMAN	WD repeat domain 36	860					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACAGAGCTGCGAAGCTTGTC	0.408																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2578-2580)Cga>Tga		WD repeat domain 36							104.0	102.0	103.0					5																	110461365		2202	4300	6502	SO:0001587	stop_gained	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110461365C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2578C>T	5.37:g.110461365C>T	ENSP00000424628:p.Arg860*					WDR36_ENST00000513710.2_Nonsense_Mutation_p.R860*	p.R860*	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	22	3151	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	860					A2RUS4|Q68E02|Q8N1Q2	Nonsense_Mutation	SNP	ENST00000513710.2	37	c.2578C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	39	7.448826	0.98292	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	.	.	.	5.63	5.63	0.86233	.	0.066546	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6397	16.0315	0.80582	0.1346:0.8654:0.0:0.0	.	.	.	.	X	860	.	ENSP00000423067:R860X	R	+	1	2	WDR36	110489264	0.984000	0.35163	1.000000	0.80357	0.989000	0.77384	1.983000	0.40648	2.655000	0.90218	0.650000	0.86243	CGA		0.408	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		28	26	0	0	0	1	0	28	26				
C10orf12	26148	broad.mit.edu	37	10	98741496	98741496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741496G>A	ENST00000286067.2	+	1	456	c.349G>A	c.(349-351)Ggc>Agc	p.G117S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	117										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTTAGGCCCCGGCCCTATGCC	0.473																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(349-351)Ggc>Agc		chromosome 10 open reading frame 12							81.0	87.0	85.0					10																	98741496		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741496G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.349G>A	10.37:g.98741496G>A	ENSP00000286067:p.Gly117Ser						p.G117S	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	456	+		Colorectal(252;0.172)	117					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.349G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.623892	0.00117	.	.	ENSG00000155640	ENST00000286067	T	0.03772	3.81	5.95	3.58	0.41010	.	0.530323	0.16699	N	0.203214	T	0.01940	0.0061	N	0.03608	-0.345	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	10	0.02654	T	1	-1.7643	8.5374	0.33371	0.7123:0.0:0.2877:0.0	.	117	Q8N655	CJ012_HUMAN	S	117	ENSP00000286067:G117S	ENSP00000286067:G117S	G	+	1	0	C10orf12	98731486	0.324000	0.24652	0.303000	0.25071	0.003000	0.03518	2.081000	0.41596	0.508000	0.28173	-0.982000	0.02568	GGC		0.473	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		27	40	0	0	0	1	0	27	40				
ADHFE1	137872	broad.mit.edu	37	8	67372645	67372645	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67372645C>A	ENST00000396623.3	+	13	1296	c.1265C>A	c.(1264-1266)gCt>gAt	p.A422D	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A374D|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	422					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGCCTAGCAGCTGTTGGTTAC	0.572											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(1264-1266)gCt>gAt		alcohol dehydrogenase, iron containing, 1							107.0	101.0	103.0					8																	67372645		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67372645C>A	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1265C>A	8.37:g.67372645C>A	ENSP00000379865:p.Ala422Asp		OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1099	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A374D|ADHFE1_ENST00000496501.1_3'UTR	p.A422D	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		13	1296	+		Lung NSC(129;0.197)	422					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.1265C>A	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116298	0.56505	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.37752	1.18;1.18	5.71	5.71	0.89125	Alcohol dehydrogenase, iron-type (1);	0.049613	0.85682	D	0.000000	T	0.51363	0.1670	L	0.49513	1.565	0.80722	D	1	P	0.40909	0.732	P	0.56216	0.794	T	0.17107	-1.0380	10	0.15499	T	0.54	-11.9187	19.8706	0.96849	0.0:1.0:0.0:0.0	.	422	Q8IWW8	HOT_HUMAN	D	422;374	ENSP00000379865:A422D;ENSP00000407115:A374D	ENSP00000379865:A422D	A	+	2	0	ADHFE1	67535199	1.000000	0.71417	0.930000	0.37139	0.753000	0.42808	7.729000	0.84864	2.691000	0.91804	0.563000	0.77884	GCT		0.572	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		12	72	1	0	9.31168e-06	1	1.06029e-05	12	72				
MECOM	2122	broad.mit.edu	37	3	168840452	168840452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168840452C>A	ENST00000464456.1	-	5	1530	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MECOM_ENST00000468789.1_Missense_Mutation_p.K110N|MECOM_ENST00000433243.2_Missense_Mutation_p.K110N|MECOM_ENST00000264674.3_Missense_Mutation_p.K174N|MECOM_ENST00000460814.1_Missense_Mutation_p.K110N|MECOM_ENST00000392736.3_Missense_Mutation_p.K110N|MECOM_ENST00000494292.1_Missense_Mutation_p.K298N|MECOM_ENST00000472280.1_Missense_Mutation_p.K110N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTAAATGCCTTGGGACACT	0.398																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(328-330)aaG>aaT		MDS1 and EVI1 complex locus							235.0	196.0	209.0					3																	168840452		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168840452C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.330G>T	3.37:g.168840452C>A	ENSP00000419770:p.Lys110Asn					MECOM_ENST00000472280.1_Missense_Mutation_p.K110N|MECOM_ENST00000468789.1_Missense_Mutation_p.K110N|MECOM_ENST00000460814.1_Missense_Mutation_p.K110N|MECOM_ENST00000433243.2_Missense_Mutation_p.K110N|MECOM_ENST00000392736.3_Missense_Mutation_p.K110N|MECOM_ENST00000264674.3_Missense_Mutation_p.K174N|MECOM_ENST00000494292.1_Missense_Mutation_p.K298N	p.K110N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			5	1530	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.330G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763898	0.69878	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586;ENST00000484519	T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.68	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.396609	0.24061	N	0.041904	T	0.52885	0.1762	M	0.79926	2.475	0.51482	D	0.99992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.997;0.998;0.997;0.998	T	0.53788	-0.8389	10	0.87932	D	0	-17.032	8.1867	0.31343	0.0:0.6711:0.0:0.3289	.	298;110;298;174;110	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	N	174;110;110;110;298;110;110;110;85;110	ENSP00000264674:K174N;ENSP00000376493:K110N;ENSP00000419770:K110N;ENSP00000420048:K110N;ENSP00000417899:K298N;ENSP00000419995:K110N;ENSP00000420466:K110N;ENSP00000394302:K110N;ENSP00000417506:K85N;ENSP00000417299:K110N	ENSP00000264674:K174N	K	-	3	2	MECOM	170323146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.868000	0.27982	0.772000	0.33382	0.655000	0.94253	AAG		0.398	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		31	47	1	0	8.4185e-14	1	1.07063e-13	31	47				
PPP1R3A	5506	broad.mit.edu	37	7	113519195	113519195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519195T>C	ENST00000284601.3	-	4	2020	c.1952A>G	c.(1951-1953)cAg>cGg	p.Q651R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	651					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTTTATGCTGTGGGCTATT	0.353																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1951-1953)cAg>cGg		protein phosphatase 1, regulatory subunit 3A							115.0	112.0	113.0					7																	113519195		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519195T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1952A>G	7.37:g.113519195T>C	ENSP00000284601:p.Gln651Arg						p.Q651R	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2020	-			651					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1952A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.996193	0.00435	.	.	ENSG00000154415	ENST00000284601	T	0.16324	2.35	6.01	-5.43	0.02632	.	1.421560	0.03961	N	0.290059	T	0.11239	0.0274	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33904	-0.9850	10	0.06757	T	0.87	-0.4452	1.6099	0.02691	0.2183:0.3437:0.111:0.3271	.	651	Q16821	PPR3A_HUMAN	R	651	ENSP00000284601:Q651R	ENSP00000284601:Q651R	Q	-	2	0	PPP1R3A	113306431	0.000000	0.05858	0.004000	0.12327	0.388000	0.30384	-0.415000	0.07106	-0.802000	0.04421	-0.267000	0.10333	CAG		0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		7	204	0	0	0	1	0	7	204				
SPTBN5	51332	broad.mit.edu	37	15	42170634	42170634	+	Missense_Mutation	SNP	G	G	A	rs200015124		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42170634G>A	ENST00000320955.6	-	17	3603	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1126					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTTGCTGCGCAGCTGAGCC	0.652																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(3376-3378)Cgc>Tgc		spectrin, beta, non-erythrocytic 5		G	CYS/ARG	2,4272		0,2,2135	36.0	39.0	38.0		3271	-4.7	0.0	15		38	10,8484		0,10,4237	yes	missense	SPTBN5	NM_016642.2	180	0,12,6372	AA,AG,GG		0.1177,0.0468,0.094	benign	1091/3640	42170634	12,12756	2137	4247	6384	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42170634G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3376C>T	15.37:g.42170634G>A	ENSP00000317790:p.Arg1126Cys						p.R1126C	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	17	3603	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1126						Missense_Mutation	SNP	ENST00000320955.6	37	c.3376C>T		.	.	.	.	.	.	.	.	.	.	.	4.582	0.108200	0.08780	4.68E-4	0.001177	ENSG00000137877	ENST00000320955	T	0.51071	0.72	4.25	-4.66	0.03329	.	2.379440	0.01335	N	0.011367	T	0.23965	0.0580	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05886	-1.0858	10	0.33141	T	0.24	.	0.6151	0.00768	0.3508:0.2647:0.195:0.1896	.	1126	Q9NRC6	SPTN5_HUMAN	C	1126	ENSP00000317790:R1126C	ENSP00000317790:R1126C	R	-	1	0	SPTBN5	39957926	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	-0.104000	0.10923	-0.578000	0.05959	0.462000	0.41574	CGC		0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	13	0	0	0	1	0	3	13				
HIPK2	28996	broad.mit.edu	37	7	139285180	139285180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139285180C>T	ENST00000406875.3	-	11	2512	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	HIPK2_ENST00000428878.2_Silent_p.Q779Q|HIPK2_ENST00000342645.6_Silent_p.Q806Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	806	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGACTGGTGCTGCTTACTCT	0.552																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2416-2418)caG>caA		homeodomain interacting protein kinase 2							78.0	80.0	79.0					7																	139285180		2086	4200	6286	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285180C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2418G>A	7.37:g.139285180C>T						HIPK2_ENST00000428878.2_Silent_p.Q779Q|HIPK2_ENST00000342645.6_Silent_p.Q806Q	p.Q806Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2512	-	Melanoma(164;0.205)		806			Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2418G>A																																																																																					0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		16	43	0	0	0	1	0	16	43				
CSF1R	1436	broad.mit.edu	37	5	149437134	149437134	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149437134C>T	ENST00000286301.3	-	16	2445	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGTCCACACCCTGGCTGGAGA	0.577																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2152-2154)caG>caA		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						57.0	54.0	55.0					5																	149437134		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149437134C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2154G>A	5.37:g.149437134C>T							p.Q718Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		16	2445	-			718			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.2154G>A	CCDS4302.1																																																																																				0.577	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		17	26	0	0	0	1	0	17	26				
ZNF707	286075	broad.mit.edu	37	8	144775881	144775881	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144775881T>C	ENST00000532205.1	+	8	1196	c.297T>C	c.(295-297)caT>caC	p.H99H	ZNF707_ENST00000418203.2_Silent_p.H99H|ZNF707_ENST00000532158.1_Silent_p.H99H|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Silent_p.H99H|ZNF707_ENST00000358656.4_Silent_p.H99H			Q96C28	ZN707_HUMAN	zinc finger protein 707	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTGTGATCATCCAGCTTGGG	0.592																																						ENST00000532205.1																			0				breast(1)	1						c.(295-297)caT>caC		zinc finger protein 707							41.0	44.0	43.0					8																	144775881		2000	4175	6175	SO:0001819	synonymous_variant	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144775881T>C	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.297T>C	8.37:g.144775881T>C						ZNF707_ENST00000418203.2_Silent_p.H99H|ZNF707_ENST00000358656.4_Silent_p.H99H|ZNF707_ENST00000532158.1_Silent_p.H99H|ZNF707_ENST00000454097.1_Silent_p.H99H	p.H99H			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1196	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		99					A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	c.297T>C	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.789533	0.00623	.	.	ENSG00000181135	ENST00000530574	T	0.01584	4.75	1.13	0.138	0.14793	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.21740	N	0.999561	.	.	.	.	.	.	T	0.50600	-0.8809	6	0.23302	T	0.38	.	6.0363	0.19710	0.0:0.0:0.6724:0.3276	.	.	.	.	T	96	ENSP00000436362:I96T	ENSP00000436362:I96T	I	+	2	0	ZNF707	144847869	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.292000	0.02772	0.017000	0.15025	-0.445000	0.05633	ATC		0.592	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		10	17	0	0	0	1	0	10	17				
IL36RN	26525	broad.mit.edu	37	2	113820102	113820102	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113820102G>T	ENST00000393200.2	+	5	477	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	IL36RN_ENST00000346807.3_Missense_Mutation_p.G106W	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	106					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCGGGACATGGGGCTCACCTC	0.612																																						ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(316-318)Ggg>Tgg		interleukin 36 receptor antagonist							59.0	53.0	55.0					2																	113820102		2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113820102G>T	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.316G>T	2.37:g.113820102G>T	ENSP00000376896:p.Gly106Trp					IL36RN_ENST00000346807.3_Missense_Mutation_p.G106W	p.G106W	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN			5	477	+			106					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.316G>T	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476759	0.63849	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	D;D;D	0.82711	-1.64;-1.64;-1.64	4.94	4.94	0.65067	.	0.047623	0.85682	D	0.000000	D	0.91928	0.7444	M	0.88241	2.94	0.39326	D	0.965331	D	0.89917	1.0	D	0.97110	1.0	D	0.93697	0.7012	10	0.87932	D	0	-23.9069	14.0222	0.64563	0.0:0.0:1.0:0.0	.	106	Q9UBH0	I36RA_HUMAN	W	106	ENSP00000259212:G106W;ENSP00000376896:G106W;ENSP00000409262:G106W	ENSP00000259212:G106W	G	+	1	0	IL36RN	113536573	0.990000	0.36364	0.537000	0.28052	0.686000	0.39977	4.768000	0.62293	2.441000	0.82636	0.655000	0.94253	GGG		0.612	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		5	36	1	0	3.59834e-05	1	4.01776e-05	5	36				
CPQ	10404	broad.mit.edu	37	8	97847315	97847315	+	Missense_Mutation	SNP	C	C	T	rs577356141		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97847315C>T	ENST00000220763.5	+	3	758	c.548C>T	c.(547-549)aCg>aTg	p.T183M		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	183					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)	p.T183M(1)									TACTCAAGGACGGTGCAATAC	0.522																																						ENST00000220763.5																			1	Substitution - Missense(1)	p.T183M(1)	upper_aerodigestive_tract(1)								c.(547-549)aCg>aTg		carboxypeptidase Q							115.0	109.0	111.0					8																	97847315		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97847315C>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.548C>T	8.37:g.97847315C>T	ENSP00000220763:p.Thr183Met						p.T183M	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			3	758	+			183					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.548C>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342702	0.24339	.	.	ENSG00000104324	ENST00000220763;ENST00000517742	T;T	0.56776	0.77;0.44	5.63	2.51	0.30379	.	0.242508	0.41605	D	0.000843	T	0.72819	0.3508	M	0.87547	2.89	0.09310	N	0.999999	D;D	0.89917	1.0;0.997	D;P	0.67725	0.953;0.849	T	0.67292	-0.5707	10	0.41790	T	0.15	-3.1769	15.1667	0.72833	0.0:0.6202:0.3798:0.0	.	183;183	B5MDX4;Q9Y646	.;PGCP_HUMAN	M	183	ENSP00000220763:T183M;ENSP00000429146:T183M	ENSP00000220763:T183M	T	+	2	0	AC010859.1	97916491	0.635000	0.27199	0.004000	0.12327	0.016000	0.09150	2.764000	0.47613	1.326000	0.45319	0.655000	0.94253	ACG		0.522	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		17	39	0	0	0	1	0	17	39				
DGCR8	54487	broad.mit.edu	37	22	20073770	20073770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20073770G>T	ENST00000351989.3	+	2	713	c.284G>T	c.(283-285)aGc>aTc	p.S95I	DGCR8_ENST00000407755.1_Missense_Mutation_p.S95I|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.S95I|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	95	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGGCCACAGCCCGCGCACC	0.572																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(283-285)aGc>aTc		DGCR8 microprocessor complex subunit							50.0	54.0	53.0					22																	20073770		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073770G>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.284G>T	22.37:g.20073770G>T	ENSP00000263209:p.Ser95Ile					DGCR8_ENST00000407755.1_Missense_Mutation_p.S95I|DGCR8_ENST00000383024.2_Missense_Mutation_p.S95I	p.S95I	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			2	713	+	Colorectal(54;0.0993)		95			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.284G>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929897	0.52759	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000457069;ENST00000407755	T;T;T	0.34667	1.37;1.35;1.35	5.42	3.33	0.38152	.	0.115884	0.85682	D	0.000000	T	0.26122	0.0637	N	0.19112	0.55	0.44447	D	0.997379	B;B	0.29037	0.231;0.148	B;B	0.32465	0.146;0.052	T	0.11518	-1.0584	10	0.72032	D	0.01	-7.3225	11.7316	0.51741	0.1442:0.0:0.8558:0.0	.	95;95	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	I	95	ENSP00000263209:S95I;ENSP00000372488:S95I;ENSP00000384726:S95I	ENSP00000263209:S95I	S	+	2	0	DGCR8	18453770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.232000	0.65332	0.851000	0.35264	0.491000	0.48974	AGC		0.572	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			11	37	1	0	0.00010058	1	0.000111121	11	37				
KCNMB1	3779	broad.mit.edu	37	5	169812421	169812421	+	Missense_Mutation	SNP	G	G	A	rs139716868	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169812421G>A	ENST00000274629.4	-	2	473	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11W	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	GTCTCTCCCCGCTTCTGGGCC	0.542													G|||	6	0.00119808	0.0	0.0	5008	,	,		18626	0.006		0.0	False		,,,				2504	0.0					ENST00000274629.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(31-33)Cgg>Tgg		potassium large conductance calcium-activated channel, subfamily M, beta member 1		G	,TRP/ARG	0,4406		0,0,2203	130.0	107.0	115.0		,31	5.1	1.0	5	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	KCNMB1,KCNIP1	NM_001034838.1,NM_004137.2	,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,11/192	169812421	1,13005	2203	4300	6503	SO:0001583	missense	0				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169812421G>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.31C>T	5.37:g.169812421G>A	ENSP00000274629:p.Arg11Trp					KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11W|KCNIP1_ENST00000518527.1_Intron	p.R11W	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	2	473	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	11					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.31C>T	CCDS4373.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	18.43	3.622492	0.66787	0.0	1.16E-4	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.10477	2.87;2.87	5.14	5.14	0.70334	.	0.193157	0.46145	D	0.000307	T	0.21307	0.0513	L	0.57536	1.79	0.39700	D	0.971168	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00461	-1.1725	9	.	.	.	.	14.4764	0.67548	0.0:0.0:1.0:0.0	.	11;11	Q16558-2;Q16558	.;KCMB1_HUMAN	W	11	ENSP00000274629:R11W;ENSP00000427940:R11W	.	R	-	1	2	KCNMB1	169744999	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	3.515000	0.53429	2.545000	0.85829	0.655000	0.94253	CGG		0.542	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			18	20	0	0	0	1	0	18	20				
MED4	29079	broad.mit.edu	37	13	48653989	48653989	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48653989T>G	ENST00000258648.2	-	6	656	c.631A>C	c.(631-633)Aga>Cga	p.R211R	MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR|MED4_ENST00000378586.1_Silent_p.R165R	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	211					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CCTGGCAATCTTCCTGCTGCA	0.438																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(631-633)Aga>Cga		mediator complex subunit 4							139.0	122.0	128.0					13																	48653989		2203	4300	6503	SO:0001819	synonymous_variant	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48653989T>G	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.631A>C	13.37:g.48653989T>G						MED4_ENST00000378586.1_Silent_p.R165R|MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA	p.R211R	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	656	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	211					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	ENST00000258648.2	37	c.631A>C	CCDS9408.1																																																																																				0.438	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		4	67	0	0	0	1	0	4	67				
UBTF	7343	broad.mit.edu	37	17	42289051	42289051	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42289051G>A	ENST00000302904.4	-	10	1462	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.R287C|UBTF_ENST00000526094.1_Missense_Mutation_p.R287C|UBTF_ENST00000343638.5_Missense_Mutation_p.R287C|UBTF_ENST00000393606.3_Missense_Mutation_p.R287C|UBTF_ENST00000529383.1_Missense_Mutation_p.R324C|UBTF_ENST00000533177.1_Missense_Mutation_p.R287C|UBTF_ENST00000436088.1_Missense_Mutation_p.R324C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	324					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCACCATGCGCTCTGTGCTG	0.602																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(970-972)Cgc>Tgc		upstream binding transcription factor, RNA polymerase I							86.0	78.0	80.0					17																	42289051		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42289051G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.970C>T	17.37:g.42289051G>A	ENSP00000302640:p.Arg324Cys					UBTF_ENST00000529383.1_Missense_Mutation_p.R324C|UBTF_ENST00000343638.5_Missense_Mutation_p.R287C|UBTF_ENST00000526094.1_Missense_Mutation_p.R287C|UBTF_ENST00000436088.1_Missense_Mutation_p.R324C|UBTF_ENST00000393606.3_Missense_Mutation_p.R287C|UBTF_ENST00000527034.1_Missense_Mutation_p.R287C|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.R287C	p.R324C			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	10	1462	-		Breast(137;0.00765)|Prostate(33;0.0181)	324					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.970C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	18.87	3.715218	0.68844	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	4.4	3.35	0.38373	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.97110	1.0;0.81;1.0	T	0.05649	-1.0872	10	0.52906	T	0.07	-15.955	14.5075	0.67762	0.0:0.0:0.8432:0.1568	.	287;287;324	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	C	287;324;287;287;324;287;287;324	ENSP00000345297:R287C;ENSP00000302640:R324C;ENSP00000431539:R287C;ENSP00000437180:R287C;ENSP00000390669:R324C;ENSP00000377231:R287C;ENSP00000432925:R287C;ENSP00000435708:R324C	ENSP00000302640:R324C	R	-	1	0	UBTF	39644577	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.131000	0.64751	2.291000	0.77112	0.491000	0.48974	CGC		0.602	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		25	33	0	0	0	1	0	25	33				
DGKB	1607	broad.mit.edu	37	7	14722263	14722263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14722263C>T	ENST00000403951.2	-	12	1369	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.C310Y|DGKB_ENST00000258767.5_Missense_Mutation_p.C317Y|DGKB_ENST00000399322.3_Missense_Mutation_p.C317Y|DGKB_ENST00000407950.1_Missense_Mutation_p.C310Y|DGKB_ENST00000402815.1_Missense_Mutation_p.C317Y|DGKB_ENST00000406247.3_Missense_Mutation_p.C317Y			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	317					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CTTGGTTGGGCAGTTACCTTC	0.433																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(949-951)tGc>tAc		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						190.0	181.0	184.0					7																	14722263		2006	4178	6184	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14722263C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.950G>A	7.37:g.14722263C>T	ENSP00000385780:p.Cys317Tyr					DGKB_ENST00000407950.1_Missense_Mutation_p.C310Y|DGKB_ENST00000406247.3_Missense_Mutation_p.C317Y|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.C317Y|DGKB_ENST00000258767.5_Missense_Mutation_p.C317Y|DGKB_ENST00000399322.3_Missense_Mutation_p.C317Y|DGKB_ENST00000444700.2_Missense_Mutation_p.C310Y	p.C317Y			Q9Y6T7	DGKB_HUMAN			12	1369	-			317					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.950G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986988	0.53934	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.97	5.97	0.96955	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.048003	0.85682	D	0.000000	D	0.96207	0.8763	M	0.84511	2.7	0.53688	D	0.999976	D;D;D;D	0.62365	0.971;0.982;0.982;0.991	P;D;D;D	0.66497	0.861;0.944;0.944;0.914	D	0.94090	0.7352	10	0.24483	T	0.36	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	317;310;317;317	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	Y	317;317;317;317;310;310;317	ENSP00000385780:C317Y;ENSP00000382260:C317Y;ENSP00000258767:C317Y;ENSP00000384909:C317Y;ENSP00000385031:C310Y;ENSP00000388451:C310Y;ENSP00000386066:C317Y	ENSP00000258767:C317Y	C	-	2	0	DGKB	14688788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.983000	0.56916	2.835000	0.97688	0.591000	0.81541	TGC		0.433	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		41	94	0	0	0	1	0	41	94				
OR12D2	26529	broad.mit.edu	37	6	29365287	29365287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29365287C>T	ENST00000383555.2	+	1	872	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGACCAGGACCGGATTGTTGC	0.468																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(811-813)Cgg>Tgg		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							185.0	187.0	187.0					6																	29365287		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365287C>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.811C>T	6.37:g.29365287C>T	ENSP00000373047:p.Arg271Trp					OR5V1_ENST00000377154.1_Intron	p.R271W	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	872	+			271					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.811C>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	c	2.601	-0.292902	0.05568	.	.	ENSG00000168787	ENST00000383555	T	0.00137	8.68	3.94	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.801011	0.10717	N	0.642168	T	0.00039	0.0001	M	0.80422	2.495	0.09310	N	1	B	0.22746	0.074	B	0.20955	0.032	T	0.39292	-0.9621	10	0.66056	D	0.02	.	1.7113	0.02893	0.3302:0.2086:0.3133:0.148	.	271	P58182	O12D2_HUMAN	W	271	ENSP00000373047:R271W	ENSP00000373047:R271W	R	+	1	2	OR12D2	29473266	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.188000	0.01249	-1.133000	0.02903	-0.982000	0.02568	CGG		0.468	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			13	150	0	0	0	1	0	13	150				
ATP2A3	489	broad.mit.edu	37	17	3832730	3832730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3832730C>T	ENST00000352011.3	-	19	2808	c.2754G>A	c.(2752-2754)gaG>gaA	p.E918E	ATP2A3_ENST00000397043.3_Silent_p.E918E|ATP2A3_ENST00000397035.3_Silent_p.E918E|ATP2A3_ENST00000397039.1_Silent_p.E102E|ATP2A3_ENST00000309890.7_Silent_p.E918E|ATP2A3_ENST00000359983.3_Silent_p.E918E|ATP2A3_ENST00000397041.3_Silent_p.E918E			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	918					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGACTGGTTCTCCGAGACGC	0.682																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2752-2754)gaG>gaA		ATPase, Ca++ transporting, ubiquitous							27.0	27.0	27.0					17																	3832730		2189	4291	6480	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3832730C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2754G>A	17.37:g.3832730C>T						ATP2A3_ENST00000397043.3_Silent_p.E918E|ATP2A3_ENST00000359983.3_Silent_p.E918E|ATP2A3_ENST00000397035.3_Silent_p.E918E|ATP2A3_ENST00000397041.3_Silent_p.E918E|ATP2A3_ENST00000352011.3_Silent_p.E918E|ATP2A3_ENST00000397039.1_Silent_p.E102E	p.E918E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	19	2904	-			918					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.2754G>A	CCDS11041.1																																																																																				0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		5	2	0	0	0	1	0	5	2				
PCDHA10	56139	broad.mit.edu	37	5	140237081	140237081	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140237081C>T	ENST00000307360.5	+	1	1448	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A483V|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1447-1449)gCg>gTg									84.0	83.0	83.0					5																	140237081		2196	4273	6469	SO:0001583	missense	0							g.chr5:140237081C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1448C>T	5.37:g.140237081C>T	ENSP00000304234:p.Ala483Val					PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A483V|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.A483V	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1448	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1448C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	4.643	0.119464	0.08881	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.52754	4.59;0.65	3.74	3.74	0.42951	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27731	0.0682	N	0.17312	0.475	0.09310	N	1	B;B;B	0.31503	0.198;0.228;0.326	B;B;B	0.32533	0.147;0.072;0.054	T	0.09552	-1.0669	9	0.25751	T	0.34	.	4.2865	0.10857	0.1607:0.5916:0.1559:0.0918	.	483;483;483	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	483	ENSP00000421030:A483V;ENSP00000304234:A483V	ENSP00000304234:A483V	A	+	2	0	PCDHA10	140217265	0.000000	0.05858	1.000000	0.80357	0.639000	0.38242	-1.962000	0.01514	2.077000	0.62373	0.456000	0.33151	GCG		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		24	68	0	0	0	1	0	24	68				
KCTD14	65987	broad.mit.edu	37	11	77734238	77734238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77734238G>A	ENST00000353172.5	-	1	102	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	20					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GACTGGGGCAGAGGGGTCTGG	0.716																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	ENST00000353172.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15						c.(58-60)Ctg>Ttg		potassium channel tetramerization domain containing 14							23.0	29.0	27.0					11																	77734238		1985	4116	6101	SO:0001819	synonymous_variant	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77734238G>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.58C>T	11.37:g.77734238G>A						NDUFC2-KCTD14_ENST00000530054.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron	p.L20L	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		1	102	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		20					B2R9R8	Silent	SNP	ENST00000353172.5	37	c.58C>T	CCDS8255.2																																																																																				0.716	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		5	33	0	0	0	1	0	5	33				
MRPL24	79590	broad.mit.edu	37	1	156708198	156708198	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156708198C>T	ENST00000361531.2	-	3	352	c.216G>A	c.(214-216)aaG>aaA	p.K72K	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Silent_p.K72K			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	72	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGCCCTGCTTCCCGGCAT	0.577																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(214-216)aaG>aaA		mitochondrial ribosomal protein L24							233.0	213.0	220.0					1																	156708198		2203	4300	6503	SO:0001819	synonymous_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708198C>T	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.216G>A	1.37:g.156708198C>T						MRPL24_ENST00000368211.4_Silent_p.K72K	p.K72K			Q96A35	RM24_HUMAN			3	352	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		72			KOW.		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Silent	SNP	ENST00000361531.2	37	c.216G>A	CCDS1155.1																																																																																				0.577	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		89	122	0	0	0	1	0	89	122				
HPSE	10855	broad.mit.edu	37	4	84227394	84227394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84227394T>C	ENST00000405413.2	-	10	1304	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	HPSE_ENST00000311412.5_Missense_Mutation_p.N390D|HPSE_ENST00000512196.1_Intron|HPSE_ENST00000513463.1_Missense_Mutation_p.N332D	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	390					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	AAATGGTAGTTTCCTGCTCCA	0.443																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1168-1170)Aac>Gac		heparanase	Heparin(DB01109)						162.0	145.0	151.0					4																	84227394		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84227394T>C	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1168A>G	4.37:g.84227394T>C	ENSP00000384262:p.Asn390Asp					HPSE_ENST00000513463.1_Missense_Mutation_p.N332D|HPSE_ENST00000311412.5_Missense_Mutation_p.N390D|HPSE_ENST00000512196.1_Intron	p.N390D	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	10	1304	-		Hepatocellular(203;0.114)	390					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1168A>G	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828714	0.32329	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000513463	T;T;T	0.31510	1.49;1.49;1.49	4.82	3.63	0.41609	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.247508	0.46442	N	0.000282	T	0.24586	0.0596	L	0.60957	1.885	0.25903	N	0.983335	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.13407	0.004;0.009;0.004	T	0.21415	-1.0246	10	0.18276	T	0.48	-11.3055	5.5951	0.17323	0.1509:0.082:0.0:0.7671	.	332;332;390	A9JIG7;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	D	390;390;332	ENSP00000308107:N390D;ENSP00000384262:N390D;ENSP00000421365:N332D	ENSP00000308107:N390D	N	-	1	0	HPSE	84446418	1.000000	0.71417	0.904000	0.35570	0.977000	0.68977	3.152000	0.50677	0.860000	0.35481	0.402000	0.26972	AAC		0.443	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		37	40	0	0	0	1	0	37	40				
FGD6	55785	broad.mit.edu	37	12	95605029	95605029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95605029G>A	ENST00000343958.4	-	2	254	c.31C>T	c.(31-33)Cca>Tca	p.P11S	FGD6_ENST00000546711.1_Missense_Mutation_p.P11S|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.P11S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	11					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGGGCCACTGGTGGCTTCTTT	0.378																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(31-33)Cca>Tca		FYVE, RhoGEF and PH domain containing 6							74.0	80.0	78.0					12																	95605029		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95605029G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.31C>T	12.37:g.95605029G>A	ENSP00000344446:p.Pro11Ser					FGD6_ENST00000549499.1_Missense_Mutation_p.P11S|FGD6_ENST00000546711.1_Missense_Mutation_p.P11S	p.P11S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	254	-			11					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.31C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.774843	0.70107	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	D;D;D	0.90900	-2.6;-2.69;-2.75	6.17	6.17	0.99709	.	0.000000	0.47093	D	0.000251	D	0.95223	0.8451	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.94657	0.7844	10	0.87932	D	0	-15.8258	20.8794	0.99867	0.0:0.0:1.0:0.0	.	11	Q6ZV73	FGD6_HUMAN	S	11	ENSP00000344446:P11S;ENSP00000450342:P11S;ENSP00000449005:P11S	ENSP00000344446:P11S	P	-	1	0	FGD6	94129160	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.562000	0.82300	2.941000	0.99782	0.655000	0.94253	CCA		0.378	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		24	59	0	0	0	1	0	24	59				
ZNF280A	129025	broad.mit.edu	37	22	22868777	22868777	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22868777G>T	ENST00000302097.3	-	2	1430	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCACACGTAGGGCATTTCGCC	0.443																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1177-1179)cCc>cAc		zinc finger protein 280A							122.0	102.0	108.0					22																	22868777		2203	4297	6500	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868777G>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1178C>A	22.37:g.22868777G>T	ENSP00000302855:p.Pro393His						p.P393H	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1430	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	393						Missense_Mutation	SNP	ENST00000302097.3	37	c.1178C>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691402	0.68271	.	.	ENSG00000169548	ENST00000302097	T	0.35605	1.3	3.9	2.89	0.33648	.	.	.	.	.	T	0.68906	0.3052	H	0.96996	3.92	0.41122	D	0.985825	D	0.89917	1.0	D	0.91635	0.999	T	0.76391	-0.2976	9	0.87932	D	0	.	9.64	0.39833	0.1051:0.0:0.8949:0.0	.	393	P59817	Z280A_HUMAN	H	393	ENSP00000302855:P393H	ENSP00000302855:P393H	P	-	2	0	ZNF280A	21198777	1.000000	0.71417	0.953000	0.39169	0.869000	0.49853	5.460000	0.66691	1.216000	0.43427	0.655000	0.94253	CCC		0.443	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		30	69	1	0	9.04072e-19	1	1.18089e-18	30	69				
CADPS	8618	broad.mit.edu	37	3	62631505	62631505	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62631505T>C	ENST00000383710.4	-	6	1566	c.1217A>G	c.(1216-1218)gAa>gGa	p.E406G	CADPS_ENST00000357948.3_Missense_Mutation_p.E406G|CADPS_ENST00000283269.9_Missense_Mutation_p.E406G|CADPS_ENST00000490353.2_Missense_Mutation_p.E406G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	406	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTTGGACTTCCATAATTAC	0.468																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1216-1218)gAa>gGa		Ca++-dependent secretion activator							137.0	131.0	133.0					3																	62631505		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62631505T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1217A>G	3.37:g.62631505T>C	ENSP00000373215:p.Glu406Gly					CADPS_ENST00000490353.2_Missense_Mutation_p.E406G|CADPS_ENST00000283269.9_Missense_Mutation_p.E406G|CADPS_ENST00000357948.3_Missense_Mutation_p.E406G	p.E406G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	6	1566	-		Lung SC(41;0.0452)	406			C2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1217A>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794112	0.90453	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.72835	-0.69;-0.69;-0.69;0.4	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	M	0.78049	2.395	0.80722	D	1	D;D;P	0.65815	0.995;0.989;0.877	D;D;P	0.72982	0.959;0.979;0.494	D	0.86281	0.1667	10	0.87932	D	0	.	15.7937	0.78388	0.0:0.0:0.0:1.0	.	406;406;406	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	G	406	ENSP00000373215:E406G;ENSP00000350632:E406G;ENSP00000283269:E406G;ENSP00000418736:E406G	ENSP00000283269:E406G	E	-	2	0	CADPS	62606545	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	GAA		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		7	77	0	0	0	1	0	7	77				
DHX35	60625	broad.mit.edu	37	20	37617553	37617553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37617553G>T	ENST00000252011.3	+	5	476	c.443G>T	c.(442-444)aGa>aTa	p.R148I	DHX35_ENST00000373323.4_Missense_Mutation_p.R117I|DHX35_ENST00000373325.2_Missense_Mutation_p.R148I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	148	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGCCACGAGAATTAAGGTA	0.493																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(442-444)aGa>aTa		DEAH (Asp-Glu-Ala-His) box polypeptide 35							82.0	80.0	80.0					20																	37617553		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37617553G>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.443G>T	20.37:g.37617553G>T	ENSP00000252011:p.Arg148Ile					DHX35_ENST00000373323.4_Missense_Mutation_p.R117I|DHX35_ENST00000373325.2_Missense_Mutation_p.R148I	p.R148I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			5	476	+		Myeloproliferative disorder(115;0.00878)	148			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.443G>T	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721092	0.89205	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.02656	4.21;4.21;4.21;4.21	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.53780	1.695	0.80722	D	1	P;P	0.50272	0.933;0.923	P;B	0.48704	0.587;0.232	T	0.50783	-0.8787	10	0.17369	T	0.5	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	117;148	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	I	148;148;117;113	ENSP00000362422:R148I;ENSP00000252011:R148I;ENSP00000362420:R117I;ENSP00000414630:R113I	ENSP00000252011:R148I	R	+	2	0	DHX35	37050967	1.000000	0.71417	0.950000	0.38849	0.791000	0.44710	8.274000	0.89889	2.812000	0.96745	0.555000	0.69702	AGA		0.493	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		21	45	1	0	4.96729e-08	1	5.9048e-08	21	45				
MTMR8	55613	broad.mit.edu	37	X	63569916	63569916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63569916G>T	ENST00000374852.3	-	5	570	c.503C>A	c.(502-504)cCt>cAt	p.P168H	MTMR8_ENST00000453546.1_Missense_Mutation_p.P168H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	168	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACAGATTTAGGAACCACTAT	0.348																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(502-504)cCt>cAt		myotubularin related protein 8							108.0	91.0	97.0					X																	63569916		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569916G>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.503C>A	X.37:g.63569916G>T	ENSP00000363985:p.Pro168His					MTMR8_ENST00000453546.1_Missense_Mutation_p.P168H	p.P168H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			5	570	-			168			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.503C>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422006	0.43020	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.99089	-5.41;-5.41	2.96	2.96	0.34315	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.47852	U	0.000213	D	0.99573	0.9846	H	0.99273	4.495	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.98;0.999	D	0.97612	1.0130	10	0.87932	D	0	.	12.2572	0.54631	0.0:0.0:1.0:0.0	.	168;168	B4DQL0;Q96EF0	.;MTMR8_HUMAN	H	168	ENSP00000394003:P168H;ENSP00000363985:P168H	ENSP00000363985:P168H	P	-	2	0	MTMR8	63486641	1.000000	0.71417	0.956000	0.39512	0.977000	0.68977	5.908000	0.69916	1.473000	0.48159	0.513000	0.50165	CCT		0.348	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		8	114	1	0	0.00448238	1	0.00472561	8	114				
EPHB3	2049	broad.mit.edu	37	3	184295234	184295234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184295234C>T	ENST00000330394.2	+	6	1910	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	486	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCTGGACTACGAGATGAAGT	0.602																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1456-1458)taC>taT		EPH receptor B3							54.0	58.0	56.0					3																	184295234		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295234C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1458C>T	3.37:g.184295234C>T						EIF2B5_ENST00000444495.1_Intron	p.Y486Y	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		6	1910	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		486			Fibronectin type-III 2.		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1458C>T	CCDS3268.1																																																																																				0.602	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		33	52	0	0	0	1	0	33	52				
RPA1	6117	broad.mit.edu	37	17	1747293	1747293	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747293G>A	ENST00000254719.5	+	3	273		c.e3+1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACTCTATCCTGTGAGTATGGT	0.448								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.e3+1	Nucleotide excision repair (NER)	replication protein A1, 70kDa							138.0	113.0	122.0					17																	1747293		2203	4300	6503	SO:0001630	splice_region_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1747293G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.163+1G>A	17.37:g.1747293G>A								NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			3	273	+								A8K0Y9|Q59ES9	Splice_Site	SNP	ENST00000254719.5	37		CCDS11014.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002976	0.35320	.	.	ENSG00000132383	ENST00000254719	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1907	0.93664	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPA1	1694043	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	6.117000	0.71577	2.831000	0.97527	0.650000	0.86243	.		0.448	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945	Intron	6	40	0	0	0	1	0	6	40				
TAF4	6874	broad.mit.edu	37	20	60575310	60575310	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575310C>T	ENST00000252996.4	-	11	2656	c.2657G>A	c.(2656-2658)gGt>gAt	p.G886D		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	886					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGTTTTTTACCTAAAGGTCA	0.353																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.e11-1		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							114.0	110.0	111.0					20																	60575310		2203	4300	6503	SO:0001630	splice_region_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575310C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2657-1G>A	20.37:g.60575310C>T							p.G886_splice	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		11	2656	-	Breast(26;1e-08)		886					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Splice_Site	SNP	ENST00000252996.4	37	c.2656_splice	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899758	0.72754	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27256	1.69;1.68	4.7	4.7	0.59300	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.55302	-0.8162	10	0.59425	D	0.04	.	17.9945	0.89178	0.0:1.0:0.0:0.0	.	886	O00268	TAF4_HUMAN	D	886;750	ENSP00000252996:G886D;ENSP00000399091:G750D	ENSP00000252996:G886D	G	-	2	0	TAF4	60008705	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	5.362000	0.66098	2.305000	0.77605	0.561000	0.74099	GGT		0.353	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	Missense_Mutation	37	49	0	0	0	1	0	37	49				
MYO5B	4645	broad.mit.edu	37	18	47389692	47389692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47389692C>T	ENST00000285039.7	-	29	4148	c.3849G>A	c.(3847-3849)ccG>ccA	p.P1283P	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.P424P	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1283					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATTAATGTTCGGCTCCTAGA	0.418																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3847-3849)ccG>ccA		myosin VB							72.0	70.0	71.0					18																	47389692		1851	4097	5948	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47389692C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3849G>A	18.37:g.47389692C>T						MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.P424P	p.P1283P	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	29	4148	-			1283					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.3849G>A	CCDS42436.1																																																																																				0.418	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			18	34	0	0	0	1	0	18	34				
FOXRED1	55572	broad.mit.edu	37	11	126141551	126141551	+	Splice_Site	SNP	C	C	T	rs77785510	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126141551C>T	ENST00000263578.5	+	2	379	c.305C>T	c.(304-306)aCg>aTg	p.T102M	FOXRED1_ENST00000532125.1_Splice_Site_p.T88M|FOXRED1_ENST00000534011.1_Intron|SRPR_ENST00000332118.6_5'Flank|SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_5'Flank|FOXRED1_ENST00000442061.2_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	102						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGGGACCACACGGTGAGGTCT	0.552													C|||	6	0.00119808	0.0	0.0	5008	,	,		20460	0.006		0.0	False		,,,				2504	0.0					ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.e2+1		FAD-dependent oxidoreductase domain containing 1							89.0	77.0	81.0					11																	126141551		2201	4298	6499	SO:0001630	splice_region_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126141551C>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.306+1C>T	11.37:g.126141551C>T						FOXRED1_ENST00000532125.1_Splice_Site_p.T88_splice|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000534011.1_Intron	p.T102_splice	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	2	379	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	102					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Splice_Site	SNP	ENST00000263578.5	37	c.306_splice	CCDS8471.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	13.33	2.206176	0.39003	.	.	ENSG00000110074	ENST00000263578;ENST00000532125	D;D	0.81499	-1.5;-1.5	5.4	5.4	0.78164	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.91406	3.205	0.80722	D	1	D;D	0.57899	0.976;0.981	P;P	0.51055	0.526;0.657	D	0.89072	0.3470	10	0.59425	D	0.04	-13.3603	10.77	0.46316	0.0:0.794:0.1328:0.0732	.	88;102	Q96CU9-3;Q96CU9	.;FXRD1_HUMAN	M	102;88	ENSP00000263578:T102M;ENSP00000434178:T88M	ENSP00000263578:T102M	T	+	2	0	FOXRED1	125646761	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	3.439000	0.52878	2.538000	0.85594	0.579000	0.79373	ACG		0.552	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547	Missense_Mutation	19	43	0	0	0	1	0	19	43				
TSPAN19	144448	broad.mit.edu	37	12	85413440	85413440	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85413440T>A	ENST00000532498.2	-	6	495	c.415A>T	c.(415-417)Acc>Tcc	p.T139S	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral component of membrane (GO:0016021)				ovary(1)	1						GTCCACTTGGTTATATCTTCA	0.323																																						ENST00000532498.2																			0				ovary(1)	1						c.(415-417)Acc>Tcc		tetraspanin 19							104.0	103.0	103.0					12																	85413440		1810	4062	5872	SO:0001583	missense	144448					integral to membrane		g.chr12:85413440T>A		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.415A>T	12.37:g.85413440T>A	ENSP00000433816:p.Thr139Ser					TSPAN19_ENST00000547403.2_5'UTR	p.T139S	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN			6	495	-			139						Missense_Mutation	SNP	ENST00000532498.2	37	c.415A>T	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	T	2.316	-0.356709	0.05138	.	.	ENSG00000231738	ENST00000532498	T	0.78924	-1.22	4.05	-0.107	0.13592	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.54208	0.1844	N	0.22421	0.69	0.09310	N	1	B	0.25772	0.134	B	0.25759	0.063	T	0.40979	-0.9534	9	0.06099	T	0.92	.	3.0429	0.06143	0.227:0.0:0.3376:0.4354	.	139	P0C672	TSN19_HUMAN	S	139	ENSP00000433816:T139S	ENSP00000433816:T139S	T	-	1	0	TSPAN19	83937571	0.394000	0.25246	0.131000	0.22000	0.835000	0.47333	0.161000	0.16481	0.071000	0.16664	-0.219000	0.12488	ACC		0.323	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		22	50	0	0	0	1	0	22	50				
CCNF	899	broad.mit.edu	37	16	2498892	2498892	+	Silent	SNP	C	C	T	rs371121254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2498892C>T	ENST00000397066.4	+	11	1219	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	377	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCCGGGAGGCCGTATGGCTCA	0.587																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1129-1131)gcC>gcT		cyclin F		C		0,4396		0,0,2198	102.0	101.0	101.0		1131	-10.8	0.7	16		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCNF	NM_001761.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		377/787	2498892	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2498892C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1131C>T	16.37:g.2498892C>T							p.A377A	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			11	1219	+		Ovarian(90;0.17)	377			Cyclin N-terminal.		B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	c.1131C>T	CCDS10467.1																																																																																				0.587	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		57	63	0	0	0	1	0	57	63				
ZNF668	79759	broad.mit.edu	37	16	31072886	31072886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31072886G>T	ENST00000538906.1	-	3	2147	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	ZNF668_ENST00000300849.4_Missense_Mutation_p.P455T|ZNF668_ENST00000417110.2_Missense_Mutation_p.G25V|ZNF668_ENST00000539836.3_Missense_Mutation_p.P478T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P455T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P478T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P455T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCTGCTGGAGGGTCCCCCAGC	0.692																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1363-1365)Cct>Act		zinc finger protein 668							41.0	48.0	45.0					16																	31072886		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072886G>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1363C>A	16.37:g.31072886G>T	ENSP00000440149:p.Pro455Thr					ZNF668_ENST00000539836.3_Missense_Mutation_p.P478T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P455T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P478T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P455T|ZNF668_ENST00000417110.2_Missense_Mutation_p.G25V|ZNF668_ENST00000300849.4_Missense_Mutation_p.P455T	p.P455T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2147	-			455					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1363C>A	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.375|6.375	0.437205|0.437205	0.12104|0.12104	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.07216	.|3.21;3.22;3.22;3.22;3.22	4.84|4.84	2.78|2.78	0.32641|0.32641	.|.	.|0.394896	.|0.20952	.|N	.|0.082736	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999995|0.999995	.|B	.|0.20052	.|0.041	.|B	.|0.12156	.|0.007	T|T	0.34502|0.34502	-0.9826|-0.9826	6|10	0.87932|0.87932	D|D	0|0	-4.3783|-4.3783	7.9554|7.9554	0.30040|0.30040	0.0918:0.1678:0.7405:0.0|0.0918:0.1678:0.7405:0.0	.|.	.|455	.|Q96K58	.|ZN668_HUMAN	V|T	25|478;455;455;455;455	.|ENSP00000442573:P478T;ENSP00000441349:P455T;ENSP00000440149:P455T;ENSP00000378434:P455T;ENSP00000300849:P455T	ENSP00000391989:G25V|ENSP00000300849:P455T	G|P	+|-	2|1	0|0	AC135050.1|ZNF668	30980387|30980387	0.002000|0.002000	0.14202|0.14202	0.701000|0.701000	0.30321|0.30321	0.671000|0.671000	0.39405|0.39405	0.206000|0.206000	0.17375|0.17375	1.237000|1.237000	0.43756|0.43756	0.462000|0.462000	0.41574|0.41574	GGG|CCT		0.692	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		9	62	1	0	0.000442599	1	0.00048047	9	62				
PLEKHG3	26030	broad.mit.edu	37	14	65197870	65197870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65197870C>T	ENST00000394691.1	+	7	979	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.H222Y			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	278							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGGCATGAGCACGCGGTCCG	0.622																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(664-666)Cac>Tac		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							95.0	84.0	88.0					14																	65197870		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197870C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.832C>T	14.37:g.65197870C>T	ENSP00000378183:p.His278Tyr					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.H278Y	p.H222Y	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	5	972	+			278			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.664C>T		.	.	.	.	.	.	.	.	.	.	C	15.62	2.887659	0.52014	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	D;D	0.89196	-2.48;-2.48	4.38	4.38	0.52667	Dbl homology (DH) domain (2);	0.059696	0.64402	D	0.000003	D	0.93344	0.7878	M	0.68952	2.095	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.72075	0.946;0.976	D	0.94273	0.7512	10	0.87932	D	0	.	16.077	0.80974	0.0:1.0:0.0:0.0	.	278;222	A1L390;A1L390-3	PKHG3_HUMAN;.	Y	222;278	ENSP00000247226:H222Y;ENSP00000378183:H278Y	ENSP00000247226:H222Y	H	+	1	0	PLEKHG3	64267623	1.000000	0.71417	0.870000	0.34147	0.080000	0.17528	6.036000	0.70948	2.135000	0.66039	0.549000	0.68633	CAC		0.622	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		22	31	0	0	0	1	0	22	31				
OPRD1	4985	broad.mit.edu	37	1	29185541	29185541	+	Silent	SNP	G	G	A	rs371917215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29185541G>A	ENST00000234961.2	+	2	545	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	101					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCACCAGCACGCTGCCTTTCC	0.517																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(301-303)acG>acA		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	G		0,4406		0,0,2203	129.0	121.0	123.0		303	-4.5	1.0	1		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OPRD1	NM_000911.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		101/373	29185541	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29185541G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.303G>A	1.37:g.29185541G>A							p.T101T	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	2	545	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	101					B5B0B8	Silent	SNP	ENST00000234961.2	37	c.303G>A	CCDS329.1																																																																																				0.517	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		39	46	0	0	0	1	0	39	46				
PAK6	56924	broad.mit.edu	37	15	40564517	40564517	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40564517C>A	ENST00000542403.2	+	4	1062	c.951C>A	c.(949-951)acC>acA	p.T317T	PAK6_ENST00000441369.1_Silent_p.T317T|PAK6_ENST00000455577.2_Silent_p.T317T|PAK6_ENST00000560346.1_Silent_p.T317T|PAK6_ENST00000260404.4_Silent_p.T317T|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.T317T	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	317	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGGTGGGGACCTTCAGCCCTC	0.677																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(949-951)acC>acA		p21 protein (Cdc42/Rac)-activated kinase 6							66.0	77.0	73.0					15																	40564517		2203	4300	6503	SO:0001819	synonymous_variant	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564517C>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.951C>A	15.37:g.40564517C>A						PAK6_ENST00000560346.1_Silent_p.T317T|PAK6_ENST00000542403.2_Silent_p.T317T|PAK6_ENST00000441369.1_Silent_p.T317T|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.T317T|PAK6_ENST00000260404.4_Silent_p.T317T	p.T317T	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1863	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	317			Linker.		A8K2G2|B3KYB0|G5E9R2	Silent	SNP	ENST00000542403.2	37	c.951C>A	CCDS10054.1																																																																																				0.677	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			6	78	1	0	0.00116845	1	0.00124821	6	78				
ACTL7B	10880	broad.mit.edu	37	9	111617534	111617534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617534C>T	ENST00000374667.3	-	1	1705	c.677G>A	c.(676-678)gGg>gAg	p.G226E		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	226						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTCACCCCCAGCGTAGTC	0.647																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(676-678)gGg>gAg		actin-like 7B							57.0	46.0	50.0					9																	111617534		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617534C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.677G>A	9.37:g.111617534C>T	ENSP00000363799:p.Gly226Glu						p.G226E	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1705	-			226					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.677G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972319	0.53614	.	.	ENSG00000148156	ENST00000374667	T	0.55760	0.5	4.63	4.63	0.57726	.	0.390235	0.18688	N	0.133949	D	0.83041	0.5168	H	0.98525	4.255	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.89151	0.3523	10	0.87932	D	0	.	15.04	0.71781	0.0:1.0:0.0:0.0	.	226	Q9Y614	ACL7B_HUMAN	E	226	ENSP00000363799:G226E	ENSP00000363799:G226E	G	-	2	0	ACTL7B	110657355	1.000000	0.71417	0.096000	0.21009	0.073000	0.16967	7.651000	0.83577	2.401000	0.81631	0.655000	0.94253	GGG		0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		14	17	0	0	0	1	0	14	17				
DOCK1	1793	broad.mit.edu	37	10	129245737	129245737	+	Silent	SNP	T	T	C	rs535574050		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129245737T>C	ENST00000280333.6	+	51	5539	c.5430T>C	c.(5428-5430)gaT>gaC	p.D1810D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1810	Interaction with NCK2 second and third SH3 domain (minor).				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCGTGGCAGATTACGGGAATT	0.582																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(5428-5430)gaT>gaC		dedicator of cytokinesis 1							49.0	56.0	53.0					10																	129245737		2030	4175	6205	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129245737T>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5430T>C	10.37:g.129245737T>C							p.D1810D	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	51	5539	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1810			Interaction with NCK2 second and third SH3 domain (minor).		A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.5430T>C																																																																																					0.582	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		7	13	0	0	0	1	0	7	13				
PPHLN1	51535	broad.mit.edu	37	12	42778746	42778746	+	Silent	SNP	C	C	T	rs147227639	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42778746C>T	ENST00000395568.2	+	6	600	c.516C>T	c.(514-516)tcC>tcT	p.S172S	PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Silent_p.S179S|PPHLN1_ENST00000432191.2_Silent_p.S117S|PPHLN1_ENST00000552761.1_Silent_p.S124S|PPHLN1_ENST00000549190.1_Silent_p.S190S|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Silent_p.S117S|PPHLN1_ENST00000358314.7_Silent_p.S172S	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	172	Ser-rich.				keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CCATAGAGTCCGTGCGTCCTG	0.507																																						ENST00000432191.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(349-351)tcC>tcT		periphilin 1		C	,,,,,,,	0,4406		0,0,2203	122.0	102.0	109.0		351,,,516,372,516,372,537	3.2	0.3	12	dbSNP_134	109	7,8593	5.7+/-21.5	0,7,4293	yes	coding-synonymous,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPHLN1	NM_001143787.1,NM_001143788.1,NM_001143789.1,NM_016488.6,NM_201438.1,NM_201439.1,NM_201440.1,NM_201515.1	,,,,,,,	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	,,,,,,,	117/435,,,172/459,124/259,172/368,124/320,179/375	42778746	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42778746C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.516C>T	12.37:g.42778746C>T						PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000549190.1_Silent_p.S190S|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Silent_p.S172S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000337898.6_Silent_p.S117S|PPHLN1_ENST00000395580.3_Silent_p.S179S|PPHLN1_ENST00000395568.2_Silent_p.S172S|PPHLN1_ENST00000552761.1_Silent_p.S124S	p.S117S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	5	423	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	172					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.351C>T	CCDS31777.1																																																																																				0.507	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		13	28	0	0	0	1	0	13	28				
PAPD5	64282	broad.mit.edu	37	16	50257163	50257163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50257163C>T	ENST00000561678.1	+	6	945	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Nonsense_Mutation_p.R401*|PAPD5_ENST00000357464.3_Nonsense_Mutation_p.R322*			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	322					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ATTATATGGACGACACTTCAA	0.373																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(964-966)Cga>Tga		PAP associated domain containing 5							80.0	78.0	79.0					16																	50257163		1815	4076	5891	SO:0001587	stop_gained	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50257163C>T	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.871C>T	16.37:g.50257163C>T	ENSP00000455837:p.Arg291*					PAPD5_ENST00000436909.3_Nonsense_Mutation_p.R401*|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Nonsense_Mutation_p.R291*	p.R322*			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	8	964	+		all_cancers(37;0.0452)	322			PAP-associated.		B4DV38|Q9NW67|Q9Y6C0	Nonsense_Mutation	SNP	ENST00000561678.1	37	c.964C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.500209	0.97616	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3179	0.74095	0.1398:0.8602:0.0:0.0	.	.	.	.	X	401;322	.	ENSP00000350054:R322X	R	+	1	2	PAPD5	48814664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.003000	0.49505	2.941000	0.99782	0.655000	0.94253	CGA		0.373	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		18	29	0	0	0	1	0	18	29				
NPAS3	64067	broad.mit.edu	37	14	33684459	33684459	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33684459T>C	ENST00000356141.4	+	3	212	c.212T>C	c.(211-213)tTc>tCc	p.F71S	NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.F41S|NPAS3_ENST00000551492.1_Missense_Mutation_p.F78S|NPAS3_ENST00000346562.2_Missense_Mutation_p.F41S|NPAS3_ENST00000548645.1_Missense_Mutation_p.F41S|NPAS3_ENST00000341321.4_Missense_Mutation_p.F71S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	71	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACTTTGAGTTCTATGAATTG	0.458																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(121-123)tTc>tCc		neuronal PAS domain protein 3							88.0	91.0	90.0					14																	33684459		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33684459T>C	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.212T>C	14.37:g.33684459T>C	ENSP00000348460:p.Phe71Ser					NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000356141.4_Missense_Mutation_p.F71S|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.F41S|NPAS3_ENST00000548645.1_Missense_Mutation_p.F41S|NPAS3_ENST00000341321.4_Missense_Mutation_p.F71S|NPAS3_ENST00000551492.1_Missense_Mutation_p.F78S	p.F41S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	2	196	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		71					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.122T>C	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686064	0.88639	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.98649	3.11;3.03;3.05;-5.05;3.01;2.99;2.8	5.96	5.96	0.96718	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000001	D	0.99369	0.9778	M	0.93763	3.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.996;0.996	D	0.98742	1.0717	10	0.87932	D	0	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	41;71;41;41	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	48;78;41;71;41;71;41	ENSP00000448373:F48S;ENSP00000450392:F78S;ENSP00000319610:F41S;ENSP00000344158:F71S;ENSP00000448916:F41S;ENSP00000348460:F71S;ENSP00000350446:F41S	ENSP00000344158:F71S	F	+	2	0	NPAS3	32754210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	TTC		0.458	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			16	68	0	0	0	1	0	16	68				
KRT78	196374	broad.mit.edu	37	12	53242353	53242353	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242353T>C	ENST00000304620.4	-	1	425	c.362A>G	c.(361-363)cAg>cGg	p.Q121R	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	121	Coil 1A.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAAGCAAACTGGTTGTTGAG	0.537																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(361-363)cAg>cGg		keratin 78							104.0	92.0	96.0					12																	53242353		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242353T>C	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.362A>G	12.37:g.53242353T>C	ENSP00000306261:p.Gln121Arg						p.Q121R	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	425	-			121			Coil 1A.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.362A>G	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921310	0.52653	.	.	ENSG00000170423	ENST00000304620	T	0.81415	-1.49	5.32	4.16	0.48862	Filament (1);	.	.	.	.	T	0.60287	0.2257	N	0.02842	-0.48	0.25264	N	0.989571	B	0.13145	0.007	B	0.17433	0.018	T	0.52011	-0.8632	9	0.38643	T	0.18	.	10.5309	0.44975	0.0:0.0779:0.0:0.9221	.	121	Q8N1N4	K2C78_HUMAN	R	121	ENSP00000306261:Q121R	ENSP00000306261:Q121R	Q	-	2	0	KRT78	51528620	0.995000	0.38212	1.000000	0.80357	0.920000	0.55202	2.566000	0.45948	0.960000	0.38005	0.402000	0.26972	CAG		0.537	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		3	42	0	0	0	1	0	3	42				
E2F8	79733	broad.mit.edu	37	11	19256341	19256341	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19256341C>A	ENST00000527884.1	-	5	948	c.716G>T	c.(715-717)gGa>gTa	p.G239V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.G239V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	239					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTGGGTGTCCATTTGGGCC	0.418																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(715-717)gGa>gTa		E2F transcription factor 8							97.0	92.0	94.0					11																	19256341		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256341C>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.716G>T	11.37:g.19256341C>A	ENSP00000434199:p.Gly239Val					E2F8_ENST00000250024.4_Missense_Mutation_p.G239V|RP11-428C19.4_ENST00000527978.1_RNA	p.G239V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			5	948	-			239					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.716G>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879706	0.51801	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.18960	2.18;2.18	5.52	4.61	0.57282	.	0.232742	0.44483	D	0.000455	T	0.27731	0.0682	L	0.48362	1.52	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.03545	-1.1026	10	0.26408	T	0.33	-10.4567	7.407	0.26995	0.0:0.7722:0.0:0.2278	.	239	A0AVK6	E2F8_HUMAN	V	239	ENSP00000434199:G239V;ENSP00000250024:G239V	ENSP00000250024:G239V	G	-	2	0	E2F8	19212917	1.000000	0.71417	0.986000	0.45419	0.771000	0.43674	3.556000	0.53734	1.337000	0.45525	0.655000	0.94253	GGA		0.418	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		24	33	1	0	2.79863e-10	1	3.44159e-10	24	33				
OR10Q1	219960	broad.mit.edu	37	11	57996345	57996345	+	Start_Codon_SNP	SNP	C	C	T	rs534359442		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996345C>T	ENST00000316770.2	-	1	45	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCCCACAGGCATGTCTTATG	0.478																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(1-3)atG>atA		olfactory receptor, family 10, subfamily Q, member 1							102.0	104.0	103.0					11																	57996345		2067	4207	6274	SO:0001582	initiator_codon_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996345C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.3G>A	11.37:g.57996345C>T	ENSP00000314324:p.Met1Ile						p.M1I	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	45	-		Breast(21;0.0589)	1					Q6IFG4	Translation_Start_Site	SNP	ENST00000316770.2	37	c.3G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544745	0.27563	.	.	ENSG00000180475	ENST00000316770	T	0.00352	7.96	4.83	2.95	0.34219	.	0.356051	0.20942	N	0.082906	T	0.00178	0.0005	.	.	.	0.38492	D	0.947999	B	0.02656	0.0	B	0.06405	0.002	T	0.65713	-0.6101	9	0.40728	T	0.16	.	5.9654	0.19322	0.1873:0.7165:0.0:0.0962	.	1	Q8NGQ4	O10Q1_HUMAN	I	1	ENSP00000314324:M1I	ENSP00000314324:M1I	M	-	3	0	OR10Q1	57752921	0.100000	0.21855	0.005000	0.12908	0.008000	0.06430	0.477000	0.22196	0.625000	0.30304	0.655000	0.94253	ATG		0.478	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471	Missense_Mutation	17	103	0	0	0	1	0	17	103				
CNTNAP1	8506	broad.mit.edu	37	17	40843236	40843236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40843236G>A	ENST00000264638.4	+	14	2358	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	714	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGATCCAGCGCTGTGCCTGT	0.617																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2140-2142)cGc>cAc		contactin associated protein 1							99.0	102.0	101.0					17																	40843236		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843236G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2141G>A	17.37:g.40843236G>A	ENSP00000264638:p.Arg714His					CTD-3193K9.3_ENST00000592440.1_RNA	p.R714H	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	14	2358	+		Breast(137;0.000143)	714			Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2141G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814101	0.90790	.	.	ENSG00000108797	ENST00000264638	T	0.10192	2.9	5.6	5.6	0.85130	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.64402	D	0.000002	T	0.21307	0.0513	L	0.40543	1.245	0.42323	D	0.992266	D	0.71674	0.998	P	0.55222	0.771	T	0.00158	-1.1975	10	0.48119	T	0.1	.	19.6023	0.95568	0.0:0.0:1.0:0.0	.	714	P78357	CNTP1_HUMAN	H	714	ENSP00000264638:R714H	ENSP00000264638:R714H	R	+	2	0	CNTNAP1	38096762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.376000	0.59556	2.653000	0.90120	0.561000	0.74099	CGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		54	93	0	0	0	1	0	54	93				
ABCA13	154664	broad.mit.edu	37	7	48315032	48315032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48315032G>T	ENST00000435803.1	+	17	5793	c.5769G>T	c.(5767-5769)aaG>aaT	p.K1923N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1923					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCATAAGATATTACCGT	0.378																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5767-5769)aaG>aaT		ATP-binding cassette, sub-family A (ABC1), member 13							124.0	125.0	125.0					7																	48315032		1827	4088	5915	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315032G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5769G>T	7.37:g.48315032G>T	ENSP00000411096:p.Lys1923Asn						p.K1923N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5793	+			1923					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5769G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138648	0.37728	.	.	ENSG00000179869	ENST00000435803	D	0.88818	-2.43	5.73	-0.637	0.11504	.	0.134464	0.33253	N	0.005118	D	0.88724	0.6514	M	0.64997	1.995	0.09310	N	1	D	0.63880	0.993	P	0.53954	0.738	T	0.81951	-0.0698	9	.	.	.	.	8.9612	0.35849	0.5216:0.0:0.4784:0.0	.	1923	Q86UQ4	ABCAD_HUMAN	N	1923	ENSP00000411096:K1923N	.	K	+	3	2	ABCA13	48285578	0.140000	0.22579	0.000000	0.03702	0.386000	0.30323	0.236000	0.17967	-0.182000	0.10602	-0.355000	0.07637	AAG		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		72	147	1	0	1.34917e-44	1	1.82184e-44	72	147				
TAF4	6874	broad.mit.edu	37	20	60575608	60575608	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575608C>A	ENST00000252996.4	-	10	2655	c.2656G>T	c.(2656-2658)Ggt>Tgt	p.G886C		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	886					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACCAACGTACCTATTTCTAAT	0.478																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.e10+1		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							108.0	106.0	107.0					20																	60575608		2203	4300	6503	SO:0001630	splice_region_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575608C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2656+1G>T	20.37:g.60575608C>A							p.G886_splice	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		10	2655	-	Breast(26;1e-08)		886					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Splice_Site	SNP	ENST00000252996.4	37	c.2656_splice	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693909	0.68386	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.26957	1.71;1.7	5.04	4.09	0.47781	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.29243	-1.0018	9	.	.	.	-8.2908	13.8217	0.63325	0.0:0.9241:0.0:0.0759	.	886	O00268	TAF4_HUMAN	C	886;750	ENSP00000252996:G886C;ENSP00000399091:G750C	.	G	-	1	0	TAF4	60009003	1.000000	0.71417	0.982000	0.44146	0.394000	0.30568	5.766000	0.68843	2.338000	0.79540	0.561000	0.74099	GGT		0.478	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	Missense_Mutation	7	73	1	0	0.000274275	1	0.000298791	7	73				
PLEKHG4	25894	broad.mit.edu	37	16	67314868	67314868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67314868G>T	ENST00000360461.5	+	3	3214	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.E227*|PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.E146*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.E227*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	227							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGCAGCCAGGAACTCATCCG	0.632																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(679-681)Gaa>Taa		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							47.0	46.0	46.0					16																	67314868		2198	4300	6498	SO:0001587	stop_gained	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67314868G>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.679G>T	16.37:g.67314868G>T	ENSP00000353646:p.Glu227*					PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.E227*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.E227*|PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.E146*	p.E227*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	3	3214	+			227					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Nonsense_Mutation	SNP	ENST00000360461.5	37	c.679G>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	54	22.508333	0.99948	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	.	.	.	5.54	4.53	0.55603	.	0.000000	0.34002	N	0.004354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.5441	0.50683	0.0:0.1801:0.8199:0.0	.	.	.	.	X	227;227;227;146	.	ENSP00000353646:E227X	E	+	1	0	PLEKHG4	65872369	1.000000	0.71417	0.980000	0.43619	0.873000	0.50193	4.212000	0.58514	2.603000	0.88011	0.467000	0.42956	GAA		0.632	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		4	37	1	0	3.59834e-05	1	4.01776e-05	4	37				
PDE4DIP	9659	broad.mit.edu	37	1	144930903	144930903	+	Intron	SNP	C	C	T	rs139265814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144930903C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.G269E|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G269E|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCACACTTTCCAAGTTCCTT	0.478			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(805-807)gGa>gAa		phosphodiesterase 4D interacting protein							166.0	158.0	161.0					1																	144930903		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930903C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7082G>A	1.37:g.144930903C>T						PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G269E|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron	p.G269E			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1245	-			1472					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.806G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.482420	0.00163	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11063	2.81;2.81	5.53	-8.69	0.00855	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.09310	N	0.999996	B	0.18310	0.027	B	0.15484	0.013	T	0.38394	-0.9663	9	0.42905	T	0.14	.	16.6717	0.85269	0.1409:0.1145:0.7446:0.0	.	269	Q5VU43-2	.	E	269	ENSP00000316434:G269E;ENSP00000433392:G269E	ENSP00000316434:G269E	G	-	2	0	PDE4DIP	143642260	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.912000	0.04046	-1.669000	0.01470	-1.058000	0.02302	GGA		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		12	144	0	0	0	1	0	12	144				
FOXR2	139628	broad.mit.edu	37	X	55650155	55650155	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650155A>C	ENST00000339140.3	+	1	323	c.11A>C	c.(10-12)aAa>aCa	p.K4T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	4					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGGACTTAAAACTAAAAGAC	0.433																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(10-12)aAa>aCa		forkhead box R2							59.0	57.0	58.0					X																	55650155		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650155A>C	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.11A>C	X.37:g.55650155A>C	ENSP00000427329:p.Lys4Thr						p.K4T	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	323	+			4						Missense_Mutation	SNP	ENST00000339140.3	37	c.11A>C	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599515	0.28534	.	.	ENSG00000189299	ENST00000339140	D	0.94537	-3.45	4.06	4.06	0.47325	.	.	.	.	.	D	0.94476	0.8222	L	0.59436	1.845	0.09310	N	0.999998	D	0.65815	0.995	P	0.53954	0.738	D	0.88285	0.2939	9	0.87932	D	0	.	8.5936	0.33701	1.0:0.0:0.0:0.0	.	4	Q6PJQ5	FOXR2_HUMAN	T	4	ENSP00000427329:K4T	ENSP00000427329:K4T	K	+	2	0	FOXR2	55666880	0.997000	0.39634	0.177000	0.23020	0.043000	0.13939	2.968000	0.49224	1.624000	0.50355	0.486000	0.48141	AAA		0.433	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		6	48	0	0	0	1	0	6	48				
WNT2	7472	broad.mit.edu	37	7	116963006	116963006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116963006G>T	ENST00000265441.3	-	1	337	c.38C>A	c.(37-39)cCt>cAt	p.P13H	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	13					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGAGCAGAGGGAGCCAGAG	0.622																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(37-39)cCt>cAt		wingless-type MMTV integration site family member 2							93.0	90.0	91.0					7																	116963006		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116963006G>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.38C>A	7.37:g.116963006G>T	ENSP00000265441:p.Pro13His						p.P13H	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	337	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		13					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.38C>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860126	0.71834	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.74315	-0.83;-0.06	4.84	4.84	0.62591	.	0.184032	0.49305	D	0.000150	T	0.65176	0.2666	N	0.14661	0.345	0.50632	D	0.999886	D	0.63046	0.992	P	0.49561	0.615	T	0.62709	-0.6797	10	0.15499	T	0.54	.	17.3067	0.87197	0.0:0.0:1.0:0.0	.	13	P09544	WNT2_HUMAN	H	13	ENSP00000265441:P13H;ENSP00000419466:P13H	ENSP00000265441:P13H	P	-	2	0	WNT2	116750242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.894000	0.75655	2.391000	0.81399	0.561000	0.74099	CCT		0.622	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		19	39	1	0	1.01871e-10	1	1.25892e-10	19	39				
ZNF57	126295	broad.mit.edu	37	19	2917641	2917641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2917641G>A	ENST00000306908.5	+	4	1170	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.C309Y	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGAACACTGTGGGAAGGCT	0.448																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1021-1023)tGt>tAt		zinc finger protein 57							64.0	59.0	61.0					19																	2917641		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917641G>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1022G>A	19.37:g.2917641G>A	ENSP00000303696:p.Cys341Tyr					ZNF57_ENST00000523428.1_Missense_Mutation_p.C309Y|AC006277.2_ENST00000520090.2_RNA	p.C341Y	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1170	+			341					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1022G>A	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924084	0.34002	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	D;D	0.85861	-2.04;-2.04	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93357	0.7882	H	0.94222	3.51	0.37613	D	0.921006	D	0.89917	1.0	D	0.91635	0.999	D	0.94375	0.7599	9	0.87932	D	0	.	10.1544	0.42814	0.0:0.0:1.0:0.0	.	341	Q68EA5	ZNF57_HUMAN	Y	341;343;309	ENSP00000303696:C341Y;ENSP00000430223:C309Y	ENSP00000303696:C341Y	C	+	2	0	ZNF57	2868641	1.000000	0.71417	0.221000	0.23827	0.083000	0.17756	7.748000	0.85085	1.259000	0.44117	0.511000	0.50034	TGT		0.448	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		16	33	0	0	0	1	0	16	33				
ENO1	2023	broad.mit.edu	37	1	8928048	8928048	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8928048T>A	ENST00000234590.4	-	5	428	c.309A>T	c.(307-309)aaA>aaT	p.K103N		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	103	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCACTCACATTTATTTTCTG	0.458																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.e5+1		enolase 1, (alpha)							486.0	476.0	480.0					1																	8928048		2203	4300	6503	SO:0001630	splice_region_variant	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8928048T>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.310+1A>T	1.37:g.8928048T>A							p.K103_splice	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	5	428	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	103			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Splice_Site	SNP	ENST00000234590.4	37	c.310_splice	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252161	0.80135	.	.	ENSG00000074800	ENST00000234590	T	0.37058	1.22	5.93	2.41	0.29592	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	H	0.99565	4.63	0.40999	D	0.984913	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.77918	-0.2408	10	0.87932	D	0	-17.8588	9.5088	0.39065	0.0:0.1829:0.0:0.8171	.	70;10;103	A4UCS8;P06733-2;P06733	.;.;ENOA_HUMAN	N	103	ENSP00000234590:K103N	ENSP00000234590:K103N	K	-	3	2	ENO1	8850635	0.840000	0.29493	0.999000	0.59377	0.976000	0.68499	-0.088000	0.11198	0.171000	0.19730	0.533000	0.62120	AAA		0.458	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428	Missense_Mutation	231	375	0	0	0	1	0	231	375				
MAPKAPK3	7867	broad.mit.edu	37	3	50677823	50677823	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50677823G>A	ENST00000446044.1	+	5	842	c.246G>A	c.(244-246)cgG>cgA	p.R82R	MAPKAPK3_ENST00000357955.2_Silent_p.R82R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCAAGGCCCGGCAGGAGGTAG	0.532																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(244-246)cgG>cgA		mitogen-activated protein kinase-activated protein kinase 3							121.0	129.0	126.0					3																	50677823		2203	4300	6503	SO:0001819	synonymous_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50677823G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.246G>A	3.37:g.50677823G>A						MAPKAPK3_ENST00000357955.2_Silent_p.R82R	p.R82R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	5	842	+			82			Protein kinase.		B5BU67	Silent	SNP	ENST00000446044.1	37	c.246G>A	CCDS2832.1																																																																																				0.532	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		14	124	0	0	0	1	0	14	124				
PCDHGA8	9708	broad.mit.edu	37	5	140773877	140773877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	499	Cadherin 5. {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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGGGGCGCCCCTGTCCT	0.562																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1495-1497)gcG>gcA									45.0	52.0	50.0					5																	140773877		2164	4284	6448	SO:0001819	synonymous_variant	0							g.chr5:140773877G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1497G>A	5.37:g.140773877G>A						PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A499A	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1497	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1497G>A	CCDS47291.1																																																																																				0.562	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		19	15	0	0	0	1	0	19	15				
MED12	9968	broad.mit.edu	37	X	70349570	70349570	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349570A>G	ENST00000374080.3	+	27	3764	c.3732A>G	c.(3730-3732)ggA>ggG	p.G1244G	MED12_ENST00000333646.6_Silent_p.G1244G|MED12_ENST00000374102.1_Silent_p.G1244G			Q93074	MED12_HUMAN	mediator complex subunit 12	1244					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGTGACAGGAGGAACAGAAG	0.582			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3730-3732)ggA>ggG		mediator complex subunit 12							37.0	42.0	40.0					X																	70349570		2133	4211	6344	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349570A>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3732A>G	X.37:g.70349570A>G			OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Silent_p.G1244G|MED12_ENST00000374080.3_Silent_p.G1244G	p.G1244G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			27	3931	+	Renal(35;0.156)		1244					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.3732A>G	CCDS43970.1																																																																																				0.582	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		5	3	0	0	0	1	0	5	3				
AIFM1	9131	broad.mit.edu	37	X	129290550	129290550	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129290550G>T	ENST00000287295.3	-	2	364	c.134C>A	c.(133-135)cCt>cAt	p.P45H	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000535724.1_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	45					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GAGTTCTAGAGGAACATGCCA	0.358																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(133-135)cCt>cAt		apoptosis-inducing factor, mitochondrion-associated, 1							203.0	177.0	185.0					X																	129290550		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129290550G>T	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.134C>A	X.37:g.129290550G>T	ENSP00000287295:p.Pro45His					AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron	p.P45H	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			2	364	-			45					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.134C>A	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391916	0.62066	.	.	ENSG00000156709	ENST00000287295	T	0.23950	1.88	5.49	5.49	0.81192	.	0.101407	0.64402	D	0.000006	T	0.47691	0.1459	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.70227	0.907;0.968	T	0.41070	-0.9529	10	0.52906	T	0.07	-9.89	16.6129	0.84899	0.0:0.0:1.0:0.0	.	45;45	Q1L6K6;O95831	.;AIFM1_HUMAN	H	45	ENSP00000287295:P45H	ENSP00000287295:P45H	P	-	2	0	AIFM1	129118231	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.853000	0.69496	2.296000	0.77279	0.538000	0.68166	CCT		0.358	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			14	222	1	0	1.02788e-11	1	1.28409e-11	14	222				
EIF3A	8661	broad.mit.edu	37	10	120818756	120818756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120818756C>T	ENST00000369144.3	-	11	1724	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T	EIF3A_ENST00000541549.1_Missense_Mutation_p.A499T|SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACTTCAAGTGCTTTTGCAAGT	0.453																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(1597-1599)Gca>Aca		eukaryotic translation initiation factor 3, subunit A							174.0	159.0	164.0					10																	120818756		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120818756C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1597G>A	10.37:g.120818756C>T	ENSP00000358140:p.Ala533Thr					EIF3A_ENST00000541549.1_Missense_Mutation_p.A499T|EIF3A_ENST00000478852.1_Intron	p.A533T	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	11	1724	-		Lung NSC(174;0.094)|all_lung(145;0.123)	533					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.1597G>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142820	0.57044	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.40225	1.04;1.04	5.79	5.79	0.91817	.	0.000000	0.39083	N	0.001479	T	0.58104	0.2099	L	0.39566	1.225	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.51124	-0.8745	10	0.37606	T	0.19	-16.5257	20.04	0.97581	0.0:1.0:0.0:0.0	.	533	Q14152	EIF3A_HUMAN	T	533;499	ENSP00000358140:A533T;ENSP00000438178:A499T	ENSP00000358140:A533T	A	-	1	0	EIF3A	120808746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.733000	0.93635	0.655000	0.94253	GCA		0.453	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		29	81	0	0	0	1	0	29	81				
AGO4	192670	broad.mit.edu	37	1	36299618	36299618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36299618C>T	ENST00000373210.3	+	12	1652	c.1407C>T	c.(1405-1407)atC>atT	p.I469I		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	469					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TGCGTAAAATCTCTAAGGATG	0.408																																						ENST00000373210.3																			0											c.(1405-1407)atC>atT		argonaute RISC catalytic component 4							95.0	95.0	95.0					1																	36299618		2203	4300	6503	SO:0001819	synonymous_variant	192670							g.chr1:36299618C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1407C>T	1.37:g.36299618C>T							p.I469I	NM_017629.3	NP_060099.2					12	1652	+								A7MD27	Silent	SNP	ENST00000373210.3	37	c.1407C>T	CCDS397.1																																																																																				0.408	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		34	48	0	0	0	1	0	34	48				
HIP1	3092	broad.mit.edu	37	7	75187036	75187036	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75187036T>G	ENST00000336926.6	-	16	1529	c.1503A>C	c.(1501-1503)caA>caC	p.Q501H	HIP1_ENST00000434438.2_Missense_Mutation_p.Q501H	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	501					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACCTGGGCTTGTCTGGCCA	0.532			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1501-1503)caA>caC		huntingtin interacting protein 1							154.0	143.0	147.0					7																	75187036		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75187036T>G	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1503A>C	7.37:g.75187036T>G	ENSP00000336747:p.Gln501His					HIP1_ENST00000434438.2_Missense_Mutation_p.Q501H	p.Q501H	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			16	1529	-			501					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1503A>C	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.208095	0.58343	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15487	2.66;2.42	4.75	3.58	0.41010	.	0.320112	0.32655	N	0.005806	T	0.31796	0.0808	M	0.78049	2.395	0.42755	D	0.993782	D;B	0.71674	0.998;0.049	P;B	0.56163	0.793;0.021	T	0.10451	-1.0629	10	0.62326	D	0.03	-12.1892	8.0318	0.30470	0.0:0.1655:0.0:0.8345	.	501;501	E7ES17;O00291	.;HIP1_HUMAN	H	501	ENSP00000336747:Q501H;ENSP00000410300:Q501H	ENSP00000336747:Q501H	Q	-	3	2	HIP1	75024972	0.952000	0.32445	1.000000	0.80357	0.795000	0.44927	0.022000	0.13511	1.773000	0.52216	0.477000	0.44152	CAA		0.532	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		8	152	0	0	0	1	0	8	152				
NCL	4691	broad.mit.edu	37	2	232325433	232325433	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232325433T>C	ENST00000322723.4	-	4	998	c.758A>G	c.(757-759)gAt>gGt	p.D253G	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	253	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		atcatcttcatcatcttcgtc	0.428																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(757-759)gAt>gGt		nucleolin							237.0	197.0	210.0					2																	232325433		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232325433T>C		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.758A>G	2.37:g.232325433T>C	ENSP00000318195:p.Asp253Gly						p.D253G	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	4	998	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	253			Asp/Glu-rich (acidic).		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.758A>G	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.300489	0.40694	.	.	ENSG00000115053	ENST00000322723	T	0.23754	1.89	5.46	4.28	0.50868	.	0.856423	0.10674	N	0.647221	T	0.26484	0.0647	L	0.46157	1.445	0.37718	D	0.924829	B	0.06786	0.001	B	0.04013	0.001	T	0.06679	-1.0813	10	0.87932	D	0	-0.2772	11.7039	0.51587	0.0:0.0:0.1481:0.8519	.	253	P19338	NUCL_HUMAN	G	253	ENSP00000318195:D253G	ENSP00000318195:D253G	D	-	2	0	NCL	232033677	0.998000	0.40836	0.035000	0.18076	0.073000	0.16967	4.443000	0.59994	0.895000	0.36342	0.524000	0.50904	GAT		0.428	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		33	66	0	0	0	1	0	33	66				
NFATC4	4776	broad.mit.edu	37	14	24842950	24842950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842950C>T	ENST00000250373.4	+	5	1750	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	NFATC4_ENST00000556759.1_Missense_Mutation_p.R72W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R72W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R550W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R467W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R569W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R537W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R569W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R467W|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554473.1_Missense_Mutation_p.R72W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R537W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R600W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R550W|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.R525W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R525W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R467W|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000556169.1_Missense_Mutation_p.R525W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R467W|NFATC4_ENST00000413692.2_Missense_Mutation_p.R600W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R569W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R550W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	537	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.R537R(1)|p.R600R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATTGAGCTTCGGAAGGGTGA	0.582																																						ENST00000413692.2																			2	Substitution - coding silent(2)	p.R537R(1)|p.R600R(1)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1798-1800)Cgg>Tgg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							104.0	104.0	104.0					14																	24842950		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24842950C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1609C>T	14.37:g.24842950C>T	ENSP00000250373:p.Arg537Trp					NFATC4_ENST00000422617.3_Missense_Mutation_p.R525W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R467W|NFATC4_ENST00000554473.1_Missense_Mutation_p.R72W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R600W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R550W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R550W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R550W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R72W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R569W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R537W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R537W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R72W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R569W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R467W|NFATC4_ENST00000250373.4_Missense_Mutation_p.R537W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R467W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R525W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R525W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R569W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R467W	p.R600W	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	6	1942	+			537			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1798C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212722	0.79352	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.88	3.98	0.46160	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92140	0.7508	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.995;0.999;0.997;0.999;0.999;0.997;0.997;0.998;0.995;0.999;0.999;0.998;0.999;1.0	D	0.92440	0.5961	10	0.87932	D	0	-5.7517	10.1977	0.43065	0.3621:0.6379:0.0:0.0	.	525;525;569;569;550;550;550;600;600;525;467;569;514;600;537	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	600;600;550;550;550;569;569;569;537;537;537;467;467;467;525;467;525;525;72;72;72	ENSP00000388910:R600W;ENSP00000452039:R600W;ENSP00000451224:R550W;ENSP00000450644:R550W;ENSP00000388668:R550W;ENSP00000439350:R569W;ENSP00000452270:R569W;ENSP00000451502:R569W;ENSP00000451151:R537W;ENSP00000250373:R537W;ENSP00000450590:R537W;ENSP00000452349:R467W;ENSP00000450469:R467W;ENSP00000450733:R467W;ENSP00000451454:R525W;ENSP00000451284:R467W;ENSP00000396788:R525W;ENSP00000450686:R525W;ENSP00000450810:R72W;ENSP00000451183:R72W;ENSP00000451395:R72W	ENSP00000250373:R537W	R	+	1	2	NFATC4	23912790	0.925000	0.31364	1.000000	0.80357	0.999000	0.98932	1.937000	0.40193	1.240000	0.43803	0.655000	0.94253	CGG		0.582	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		39	55	0	0	0	1	0	39	55				
PLCG2	5336	broad.mit.edu	37	16	81934302	81934302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81934302G>A	ENST00000359376.3	+	14	1493	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	427	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGTATTTGGCGACCTGCTGTT	0.612																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1279-1281)Gac>Aac		phospholipase C, gamma 2 (phosphatidylinositol-specific)							50.0	56.0	54.0					16																	81934302		2145	4266	6411	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81934302G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1279G>A	16.37:g.81934302G>A	ENSP00000352336:p.Asp427Asn						p.D427N	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			14	1493	+			427			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1279G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591842	0.66219	.	.	ENSG00000197943	ENST00000359376	T	0.58060	0.36	5.03	4.07	0.47477	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.239348	0.48286	N	0.000186	T	0.74427	0.3715	M	0.89030	3	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;P	0.68039	0.955;0.872	T	0.79928	-0.1596	10	0.87932	D	0	.	13.3112	0.60380	0.077:0.0:0.923:0.0	.	294;427	B4E3H3;P16885	.;PLCG2_HUMAN	N	427	ENSP00000352336:D427N	ENSP00000352336:D427N	D	+	1	0	PLCG2	80491803	1.000000	0.71417	0.022000	0.16811	0.001000	0.01503	5.374000	0.66167	1.100000	0.41517	0.563000	0.77884	GAC		0.612	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			15	23	0	0	0	1	0	15	23				
TRAPPC11	60684	broad.mit.edu	37	4	184587440	184587440	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184587440G>T	ENST00000334690.6	+	3	437	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.G79W	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	79					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CATTCCTAAAGGGATCTTAAA	0.458																																						ENST00000334690.6																			0											c.(235-237)Ggg>Tgg		trafficking protein particle complex 11							139.0	138.0	139.0					4																	184587440		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184587440G>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.235G>T	4.37:g.184587440G>T	ENSP00000335371:p.Gly79Trp					TRAPPC11_ENST00000357207.4_Missense_Mutation_p.G79W	p.G79W	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			3	437	+			79					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.235G>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027007	0.93518	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87524	0.2448	9	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	79;79	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	W	79	.	ENSP00000335371:G79W	G	+	1	0	C4orf41	184824434	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.789000	0.99068	2.724000	0.93272	0.563000	0.77884	GGG		0.458	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		40	68	1	0	1.52319e-26	1	2.02909e-26	40	68				
CCKBR	887	broad.mit.edu	37	11	6292066	6292066	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6292066G>A	ENST00000334619.2	+	4	1004				CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Missense_Mutation_p.E282K|CCKBR_ENST00000532396.1_Intron	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAATCTGGGCGAGGCGGAGCT	0.622																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(844-846)Gag>Aag		cholecystokinin B receptor	Pentagastrin(DB00183)						27.0	28.0	28.0					11																	6292066		2201	4296	6497	SO:0001627	intron_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292066G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.811+33G>A	11.37:g.6292066G>A						CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron	p.E282K			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	847	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	242					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.844G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.299973	0.00243	.	.	ENSG00000110148	ENST00000525462	T	0.56776	0.44	5.0	0.96	0.19631	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	7	.	.	.	.	3.7849	0.08695	0.1821:0.0:0.4792:0.3387	.	282	P32239-2	.	K	282	ENSP00000435534:E282K	.	E	+	1	0	CCKBR	6248642	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	0.021000	0.15133	-0.142000	0.14014	GAG		0.622	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		21	14	0	0	0	1	0	21	14				
WSB1	26118	broad.mit.edu	37	17	25639315	25639315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25639315C>T	ENST00000262394.2	+	9	1502	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	WSB1_ENST00000348811.2_Nonsense_Mutation_p.R250*|RP11-173M1.8_ENST00000578929.1_lincRNA	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	396	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATGTCAATCCGAAGAGTGAT	0.473																																						ENST00000262394.2																			0				lung(3)	3						c.(1186-1188)Cga>Tga		WD repeat and SOCS box containing 1							283.0	269.0	274.0					17																	25639315		2203	4300	6503	SO:0001587	stop_gained	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25639315C>T	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.1186C>T	17.37:g.25639315C>T	ENSP00000262394:p.Arg396*					WSB1_ENST00000348811.2_Nonsense_Mutation_p.R250*	p.R396*	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	9	1502	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		396			SOCS box.		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Nonsense_Mutation	SNP	ENST00000262394.2	37	c.1186C>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339595	0.95783	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	.	.	.	5.91	3.92	0.45320	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-20.3689	8.35	0.32297	0.2765:0.6533:0.0:0.0702	.	.	.	.	X	396;250	.	ENSP00000262394:R396X	R	+	1	2	WSB1	22663442	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	3.601000	0.54059	0.828000	0.34709	-0.140000	0.14226	CGA		0.473	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		134	222	0	0	0	1	0	134	222				
EPHA2	1969	broad.mit.edu	37	1	16461639	16461639	+	Missense_Mutation	SNP	C	C	T	rs141123184		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16461639C>T	ENST00000358432.5	-	7	1628	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TCCAGGGTCACGGAGAAACCC	0.682																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1474-1476)Gtg>Atg		EPH receptor A2	Dasatinib(DB01254)	C	MET/VAL	0,4406		0,0,2203	135.0	129.0	131.0		1474	4.4	1.0	1	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense	EPHA2	NM_004431.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	492/977	16461639	2,13004	2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16461639C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1474G>A	1.37:g.16461639C>T	ENSP00000351209:p.Val492Met						p.V492M	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	7	1628	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	492			Fibronectin type-III 2.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1474G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886244	0.51908	0.0	2.33E-4	ENSG00000142627	ENST00000358432	T	0.60424	0.19	5.4	4.38	0.52667	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.125590	0.35067	N	0.003463	T	0.45657	0.1353	L	0.39085	1.19	0.48762	D	0.999708	B	0.23442	0.085	B	0.25405	0.06	T	0.47114	-0.9142	10	0.56958	D	0.05	.	8.6987	0.34312	0.0:0.8612:0.0:0.1388	.	492	P29317	EPHA2_HUMAN	M	492	ENSP00000351209:V492M	ENSP00000351209:V492M	V	-	1	0	EPHA2	16334226	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.231000	0.51294	2.539000	0.85634	0.655000	0.94253	GTG		0.682	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		56	107	0	0	0	1	0	56	107				
IPO5	3843	broad.mit.edu	37	13	98652797	98652797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98652797G>A	ENST00000490680.1	+	10	1071	c.1006G>A	c.(1006-1008)Gca>Aca	p.A336T	IPO5_ENST00000261574.5_Missense_Mutation_p.A354T|IPO5_ENST00000539640.1_Missense_Mutation_p.A211T			O00410	IPO5_HUMAN	importin 5	336	Ran-GTP binding. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTTAGCAATGCAGTTGCAGG	0.368																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1060-1062)Gca>Aca		importin 5							129.0	115.0	119.0					13																	98652797		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98652797G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1006G>A	13.37:g.98652797G>A	ENSP00000418393:p.Ala336Thr					IPO5_ENST00000539640.1_Missense_Mutation_p.A211T|IPO5_ENST00000490680.1_Missense_Mutation_p.A336T	p.A354T	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			13	1240	+			336			Ran-GTP binding (By similarity).		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1060G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.566619|3.566619	0.65651|0.65651	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67192|0.67192	0.2867|0.2867	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28324|.	0.131;0.131;0.207|.	B;B;B|.	0.32928|.	0.074;0.074;0.155|.	T|T	0.59915|0.59915	-0.7364|-0.7364	10|5	0.22109|.	T|.	0.4|.	0.0052|0.0052	20.4756|20.4756	0.99175|0.99175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	211;336;354|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	T|I	354;336;336;211|337	ENSP00000261574:A354T;ENSP00000350219:A336T;ENSP00000418393:A336T;ENSP00000445126:A211T|.	ENSP00000261574:A354T|.	A|M	+|+	1|3	0|0	IPO5|IPO5	97450798|97450798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	9.581000|9.581000	0.98210|0.98210	2.847000|2.847000	0.97988|0.97988	0.655000|0.655000	0.94253|0.94253	GCA|ATG		0.368	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		6	46	0	0	0	1	0	6	46				
LILRB4	11006	broad.mit.edu	37	19	55175251	55175251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55175251C>A	ENST00000391736.1	+	5	425	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	LILRB4_ENST00000430952.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000391733.3_Missense_Mutation_p.S37Y|LILRB4_ENST00000391734.3_Missense_Mutation_p.S37Y|LILRB4_ENST00000270452.2_Missense_Mutation_p.S37Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	37	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCAGGCTCTGTGATCAGC	0.607																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(109-111)tCt>tAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							71.0	76.0	74.0					19																	55175251		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175251C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.110C>A	19.37:g.55175251C>A	ENSP00000375616:p.Ser37Tyr					LILRB4_ENST00000270452.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000391734.3_Missense_Mutation_p.S37Y|LILRB4_ENST00000430952.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000391733.3_Missense_Mutation_p.S37Y	p.S37Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	5	425	+			37			Ig-like C2-type 1.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.110C>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902533	0.33628	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	2.43	1.37	0.22104	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37046	0.0989	M	0.90705	3.14	0.09310	N	1	D;D;D;D;D;D	0.76494	0.989;0.997;0.999;0.982;0.997;0.999	D;D;D;D;D;D	0.75020	0.985;0.974;0.951;0.965;0.959;0.977	T	0.09207	-1.0685	9	0.62326	D	0.03	.	4.4619	0.11669	0.0:0.8009:0.0:0.1991	.	37;37;37;37;37;78	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	Y	78;37;37;37;37;37;37	ENSP00000375616:S37Y;ENSP00000270452:S37Y;ENSP00000408995:S37Y;ENSP00000375614:S37Y;ENSP00000375613:S37Y;ENSP00000401962:S37Y	ENSP00000270452:S37Y	S	+	2	0	LILRB4	59867063	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.136000	0.15974	1.370000	0.46153	0.407000	0.27541	TCT		0.607	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			25	44	1	0	4.26978e-12	1	5.35206e-12	25	44				
KCNQ2	3785	broad.mit.edu	37	20	62071046	62071046	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62071046T>C	ENST00000359125.2	-	6	1006	c.832A>G	c.(832-834)Att>Gtt	p.I278V	KCNQ2_ENST00000359689.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000344462.4_Missense_Mutation_p.I278V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.I278V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.I278V|KCNQ2_ENST00000354587.3_Missense_Mutation_p.I278V	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	278					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCGTAGCCAATGGTGGTCAGC	0.642																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(832-834)Att>Gtt		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						195.0	141.0	159.0					20																	62071046		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62071046T>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.832A>G	20.37:g.62071046T>C	ENSP00000352035:p.Ile278Val					KCNQ2_ENST00000344425.5_Missense_Mutation_p.I278V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000359125.2_Missense_Mutation_p.I278V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.I278V	p.I278V			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1008	-	all_cancers(38;1.24e-11)		278					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.832A>G	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.836718	0.71373	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	4.01	4.01	0.46588	Ion transport (1);	0.106321	0.52532	D	0.000072	D	0.95548	0.8553	N	0.11064	0.09	0.58432	D	0.999999	D;B;P;P;P;P	0.76494	0.999;0.226;0.941;0.9;0.941;0.918	D;B;P;P;P;P	0.74023	0.982;0.336;0.677;0.677;0.758;0.783	D	0.94802	0.7971	10	0.33940	T	0.23	-4.3494	13.2151	0.59854	0.0:0.0:0.0:1.0	.	278;278;278;278;278;278	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	V	278	ENSP00000349789:I278V;ENSP00000352035:I278V;ENSP00000359246:I278V;ENSP00000346601:I278V;ENSP00000352718:I278V;ENSP00000399612:I278V;ENSP00000353668:I278V;ENSP00000339611:I278V;ENSP00000359244:I278V;ENSP00000359242:I278V;ENSP00000359241:I278V;ENSP00000345523:I278V	ENSP00000345523:I278V	I	-	1	0	KCNQ2	61541490	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.035000	0.70940	1.554000	0.49487	0.459000	0.35465	ATT		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		18	27	0	0	0	1	0	18	27				
RRM1	6240	broad.mit.edu	37	11	4148305	4148305	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148305G>A	ENST00000300738.5	+	14	1715	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	RRM1_ENST00000537197.1_Missense_Mutation_p.G166E|RRM1_ENST00000423050.2_Missense_Mutation_p.G407E|RRM1_ENST00000534285.1_Missense_Mutation_p.G282E	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	504					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTGGAATTGGGGTACAAGGT	0.388																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1510-1512)gGg>gAg		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						116.0	120.0	119.0					11																	4148305		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4148305G>A	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1511G>A	11.37:g.4148305G>A	ENSP00000300738:p.Gly504Glu					RRM1_ENST00000537197.1_Missense_Mutation_p.G166E|RRM1_ENST00000534285.1_Missense_Mutation_p.G282E|RRM1_ENST00000423050.2_Missense_Mutation_p.G407E	p.G504E	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	14	1715	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	504					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1511G>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973413	0.92919	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.54	5.54	0.83059	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	H	0.99935	4.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	10	0.87932	D	0	-12.7865	18.4056	0.90535	0.0:0.0:1.0:0.0	.	504	P23921	RIR1_HUMAN	E	504;407;417;282;282;166	ENSP00000300738:G504E;ENSP00000390539:G407E;ENSP00000431464:G282E;ENSP00000442148:G166E	ENSP00000300738:G504E	G	+	2	0	RRM1	4104881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.352000	0.97076	2.775000	0.95449	0.655000	0.94253	GGG		0.388	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		33	61	0	0	0	1	0	33	61				
TBCA	6902	broad.mit.edu	37	5	77004141	77004141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:77004141C>A	ENST00000380377.4	-	2	188	c.85G>T	c.(85-87)Gag>Tag	p.E29*	TBCA_ENST00000520039.1_Intron|TBCA_ENST00000520361.1_Nonsense_Mutation_p.E29*|TBCA_ENST00000522370.1_Nonsense_Mutation_p.E5*|TBCA_ENST00000518338.2_Nonsense_Mutation_p.E29*|TBCA_ENST00000517679.1_Nonsense_Mutation_p.E40*|TBCA_ENST00000306388.6_Nonsense_Mutation_p.E29*	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A	29					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TGTTTTGCCTCTTTTTCATAC	0.284																																						ENST00000306388.6																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(85-87)Gag>Tag		tubulin folding cofactor A							110.0	101.0	104.0					5																	77004141		2202	4295	6497	SO:0001587	stop_gained	6902				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding	g.chr5:77004141C>A	AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"""tubulin-specific chaperone a"""			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.85G>T	5.37:g.77004141C>A	ENSP00000369736:p.Glu29*					TBCA_ENST00000380377.4_Nonsense_Mutation_p.E29*|TBCA_ENST00000520361.1_Nonsense_Mutation_p.E29*|TBCA_ENST00000522370.1_Nonsense_Mutation_p.E5*|TBCA_ENST00000518338.2_Nonsense_Mutation_p.E29*|TBCA_ENST00000517679.1_Nonsense_Mutation_p.E40*|TBCA_ENST00000520039.1_Intron	p.E29*			O75347	TBCA_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)	2	114	-		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	29					B4DT30	Nonsense_Mutation	SNP	ENST00000380377.4	37	c.85G>T	CCDS4040.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645760	0.96704	.	.	ENSG00000171530	ENST00000380377;ENST00000517679;ENST00000306388;ENST00000520361;ENST00000522370	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.3431	17.199	0.86901	0.0:1.0:0.0:0.0	.	.	.	.	X	29;40;29;29;5	.	ENSP00000306362:E29X	E	-	1	0	TBCA	77039897	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.036000	0.64164	2.459000	0.83118	0.650000	0.86243	GAG		0.284	TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220021.3	NM_004607		4	28	1	0	1	1	1	4	28				
HEATR6	63897	broad.mit.edu	37	17	58121478	58121478	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121478A>G	ENST00000184956.6	-	20	3008	c.2992T>C	c.(2992-2994)Tcc>Ccc	p.S998P	AC005702.3_ENST00000582298.1_RNA|HEATR6_ENST00000585976.1_Missense_Mutation_p.S886P|AC005702.1_ENST00000581326.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.2_ENST00000577558.1_RNA|AC005702.4_ENST00000583144.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	998							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGGCCTGGGAGGTCCATGGG	0.532																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(2992-2994)Tcc>Ccc		HEAT repeat containing 6							74.0	73.0	73.0					17																	58121478		2201	4299	6500	SO:0001583	missense	63897						binding	g.chr17:58121478A>G	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2992T>C	17.37:g.58121478A>G	ENSP00000184956:p.Ser998Pro					HEATR6_ENST00000585976.1_Missense_Mutation_p.S886P	p.S998P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3008	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		998					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.2992T>C	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903199	0.52333	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.30981	1.51	5.15	4.0	0.46444	Armadillo-like helical (1);Armadillo-type fold (1);	0.418143	0.28549	N	0.014951	T	0.23611	0.0571	N	0.24115	0.695	0.21473	N	0.999678	P;P	0.50617	0.937;0.682	P;B	0.49332	0.607;0.239	T	0.05989	-1.0852	10	0.34782	T	0.22	-13.2806	5.643	0.17575	0.5346:0.3147:0.0:0.1506	.	733;998	E7ESB9;Q6AI08	.;HEAT6_HUMAN	P	998;733	ENSP00000184956:S998P	ENSP00000184956:S998P	S	-	1	0	HEATR6	55476260	0.480000	0.25933	1.000000	0.80357	0.955000	0.61496	0.414000	0.21164	2.084000	0.62774	0.529000	0.55759	TCC		0.532	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		7	71	0	0	0	1	0	7	71				
TTC13	79573	broad.mit.edu	37	1	231067615	231067615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231067615C>T	ENST00000366661.4	-	10	999	c.992G>A	c.(991-993)gGc>gAc	p.G331D	TTC13_ENST00000414259.1_Missense_Mutation_p.G278D|TTC13_ENST00000366662.4_Missense_Mutation_p.G278D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	331										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCAAAATTGCCCAGTTCTCT	0.398																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(991-993)gGc>gAc		tetratricopeptide repeat domain 13							76.0	78.0	78.0					1																	231067615		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231067615C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.992G>A	1.37:g.231067615C>T	ENSP00000355621:p.Gly331Asp					TTC13_ENST00000414259.1_Missense_Mutation_p.G278D|TTC13_ENST00000366662.4_Missense_Mutation_p.G278D	p.G331D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	10	999	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	331					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.992G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022403	0.93462	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.71817	-0.04;-0.6;-0.6	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	L	0.60067	1.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;1.0	D	0.83790	0.0230	10	0.87932	D	0	-12.9795	19.7538	0.96281	0.0:1.0:0.0:0.0	.	256;278;278;331	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	D	331;278;278	ENSP00000355621:G331D;ENSP00000355622:G278D;ENSP00000416631:G278D	ENSP00000355621:G331D	G	-	2	0	TTC13	229134238	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.788000	0.85771	2.690000	0.91761	0.655000	0.94253	GGC		0.398	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		24	53	0	0	0	1	0	24	53				
LMO7	4008	broad.mit.edu	37	13	76287327	76287327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76287327G>T	ENST00000341547.4	+	3	1495	c.235G>T	c.(235-237)Gag>Tag	p.E79*	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Nonsense_Mutation_p.E79*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.E79*	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	79	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAGTAACAGAGAAGAATTT	0.303																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(235-237)Gag>Tag		LIM domain 7							53.0	57.0	55.0					13																	76287327		2202	4300	6502	SO:0001587	stop_gained	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76287327G>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.235G>T	13.37:g.76287327G>T	ENSP00000342112:p.Glu79*					LMO7_ENST00000377534.3_Nonsense_Mutation_p.E79*|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E79*	p.E79*			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	3	1495	+		Breast(118;0.0992)	79			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	ENST00000341547.4	37	c.235G>T	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	36	5.915110	0.97099	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	.	.	.	5.59	3.86	0.44501	.	0.893968	0.09490	N	0.795107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	8.1577	0.31178	0.0844:0.158:0.7576:0.0	.	.	.	.	X	79;79;79;27	.	ENSP00000342112:E79X	E	+	1	0	LMO7	75185328	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	2.507000	0.45442	0.832000	0.34804	-0.258000	0.10820	GAG		0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		5	18	1	0	0.000602214	1	0.000649039	5	18				
CR1	1378	broad.mit.edu	37	1	207753903	207753903	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753903C>T	ENST00000367049.4	+	31	5161	c.5161C>T	c.(5161-5163)Cta>Tta	p.L1721L	CR1_ENST00000367051.1_Silent_p.L1271L|CR1_ENST00000367052.1_Silent_p.L1271L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.L1271L|CR1_ENST00000367053.1_Silent_p.L1271L|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1271	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCCGTGTGCTATTTCCACT	0.438																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(5161-5163)Cta>Tta		complement component (3b/4b) receptor 1 (Knops blood group)							260.0	243.0	248.0					1																	207753903		1883	4112	5995	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207753903C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5161C>T	1.37:g.207753903C>T						CR1_ENST00000400960.2_Silent_p.L1271L|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.L1271L|CR1_ENST00000367053.1_Silent_p.L1271L|CR1_ENST00000367051.1_Silent_p.L1271L	p.L1721L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			31	5161	+			1271			Sushi 27.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.5161C>T	CCDS44308.1																																																																																				0.438	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		90	189	0	0	0	1	0	90	189				
SLC4A7	9497	broad.mit.edu	37	3	27475580	27475580	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:27475580T>C	ENST00000295736.5	-	6	648	c.578A>G	c.(577-579)aAc>aGc	p.N193S	SLC4A7_ENST00000445684.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N202S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N193S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N198S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N198S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	193					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	AGCTATCATGTTGTCTAATAC	0.338																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(577-579)aAc>aGc		solute carrier family 4, sodium bicarbonate cotransporter, member 7							112.0	113.0	112.0					3																	27475580		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27475580T>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.578A>G	3.37:g.27475580T>C	ENSP00000295736:p.Asn193Ser					SLC4A7_ENST00000446700.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N198S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N193S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N202S	p.N193S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			6	648	-			193					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.578A>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450681	0.26074	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.83	5.83	0.93111	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.200395	0.56097	D	0.000030	T	0.69196	0.3084	L	0.48362	1.52	0.53005	D	0.999963	P;B;P;P;B;B;B;B;B	0.46706	0.883;0.008;0.788;0.67;0.022;0.008;0.006;0.022;0.008	P;B;P;P;B;B;B;B;B	0.53102	0.718;0.034;0.577;0.714;0.019;0.021;0.02;0.019;0.034	T	0.66838	-0.5822	10	0.30854	T	0.27	.	12.0285	0.53384	0.0:0.069:0.0:0.931	.	202;198;198;202;202;198;193;193;198	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	S	193;193;202;202;198;198;198;202;202;198;193	ENSP00000295736:N193S;ENSP00000416368:N193S;ENSP00000390394:N202S;ENSP00000414797:N202S;ENSP00000394252:N198S;ENSP00000406605:N198S;ENSP00000407382:N198S;ENSP00000406804:N202S;ENSP00000395336:N202S;ENSP00000401949:N198S;ENSP00000388703:N193S	ENSP00000295736:N193S	N	-	2	0	SLC4A7	27450584	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.857000	0.39399	2.217000	0.71921	0.477000	0.44152	AAC		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		26	22	0	0	0	1	0	26	22				
GLMN	11146	broad.mit.edu	37	1	92729282	92729282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92729282C>T	ENST00000370360.3	-	15	1388	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	GLMN_ENST00000534881.1_Missense_Mutation_p.R422H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	436					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTGTTGTTACGTGTTCTCTG	0.343									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(1306-1308)cGt>cAt		glomulin, FKBP associated protein							166.0	164.0	165.0					1																	92729282		2203	4300	6503	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92729282C>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1307G>A	1.37:g.92729282C>T	ENSP00000359385:p.Arg436His					GLMN_ENST00000534881.1_Missense_Mutation_p.R422H	p.R436H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	15	1388	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	436					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.1307G>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	c	7.151	0.583672	0.13749	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.50813	0.73;0.73	5.88	-2.72	0.05968	.	1.262230	0.04891	N	0.449521	T	0.06050	0.0157	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20638	-1.0269	10	0.11182	T	0.66	12.6403	10.0856	0.42417	0.0:0.128:0.5865:0.2855	.	422;436	B4DJ85;Q92990	.;GLMN_HUMAN	H	436;422	ENSP00000359385:R436H;ENSP00000440156:R422H	ENSP00000359385:R436H	R	-	2	0	GLMN	92501870	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	0.081000	0.14823	-0.757000	0.04697	-0.937000	0.02696	CGT		0.343	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		98	84	0	0	0	1	0	98	84				
SLC29A2	3177	broad.mit.edu	37	11	66136899	66136899	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66136899C>T	ENST00000357440.2	-	3	444	c.216G>A	c.(214-216)acG>acA	p.T72T	SLC29A2_ENST00000546034.1_Silent_p.T72T|SLC29A2_ENST00000311161.7_Silent_p.T72T|SLC29A2_ENST00000544554.1_Silent_p.T72T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	72					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGGACAGCAGCGTCACCCAAT	0.647																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(214-216)acG>acA		solute carrier family 29 (equilibrative nucleoside transporter), member 2							188.0	170.0	176.0					11																	66136899		2200	4295	6495	SO:0001819	synonymous_variant	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66136899C>T	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.216G>A	11.37:g.66136899C>T						SLC29A2_ENST00000544554.1_Silent_p.T72T|SLC29A2_ENST00000546034.1_Silent_p.T72T|SLC29A2_ENST00000311161.7_Silent_p.T72T	p.T72T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			3	444	-			72					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Silent	SNP	ENST00000357440.2	37	c.216G>A	CCDS8137.1																																																																																				0.647	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		69	133	0	0	0	1	0	69	133				
SIK3	23387	broad.mit.edu	37	11	116733035	116733035	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116733035C>G	ENST00000292055.4	-	16	1829	c.1794G>C	c.(1792-1794)gaG>gaC	p.E598D	SIK3_ENST00000375288.1_Missense_Mutation_p.S30T|SIK3_ENST00000375300.1_Missense_Mutation_p.E656D|SIK3_ENST00000446921.2_Missense_Mutation_p.E656D|SIK3_ENST00000434315.2_Missense_Mutation_p.E497D|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.E598D	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	598	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGCAGCTGCTCACACTCCT	0.507																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1966-1968)gaG>gaC		SIK family kinase 3							145.0	141.0	142.0					11																	116733035		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733035C>G	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1794G>C	11.37:g.116733035C>G	ENSP00000292055:p.Glu598Asp					SIK3_ENST00000446921.2_Missense_Mutation_p.E656D|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.E598D|SIK3_ENST00000434315.2_Missense_Mutation_p.E497D|SIK3_ENST00000375288.1_Missense_Mutation_p.S30T|SIK3_ENST00000292055.4_Missense_Mutation_p.E598D	p.E656D			Q9Y2K2	SIK3_HUMAN			16	1973	-			598			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.1968G>C	CCDS8379.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	27.0|27.0|27.0	4.789331|4.789331|4.789331	0.90367|0.90367|0.90367	.|.|.	.|.|.	ENSG00000160584|ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000375288	.|T;T;T;T|T	.|0.74315|0.32988	.|-0.79;-0.83;-0.78;-0.38|1.43	5.95|5.95|5.95	5.95|5.95|5.95	0.96441|0.96441|0.96441	.|Protein kinase-like domain (1);|.	.|0.000000|.	.|0.41605|.	.|U|.	.|0.000846|.	T|T|T	0.33527|0.33527|0.33527	0.0866|0.0866|0.0866	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.27855|0.27855|0.27855	N|N|N	0.940593|0.940593|0.940593	.|D;D;D|P	.|0.76494|0.49559	.|0.999;0.998;0.998|0.925	.|D;D;D|P	.|0.77557|0.47162	.|0.99;0.985;0.985|0.54	T|T|T	0.21655|0.21655|0.21655	-1.0239|-1.0239|-1.0239	5|10|9	.|0.72032|0.87932	.|D|D	.|0.01|0	.|.|.	15.4992|15.4992|15.4992	0.75684|0.75684|0.75684	0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679	.|.|.	.|598;497;598|30	.|A1A5A8;A1A5A9;Q9Y2K2|Q9Y2K2-2	.|.;.;SIK3_HUMAN|.	P|D|T	698;621|656;598;598;497|30	.|ENSP00000364449:E656D;ENSP00000292055:E598D;ENSP00000438108:E598D;ENSP00000415873:E497D|ENSP00000364437:S30T	.|ENSP00000292055:E598D|ENSP00000364437:S30T	A|E|S	-|-|-	1|3|2	0|2|0	SIK3|SIK3|SIK3	116238245|116238245|116238245	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	4.682000|4.682000|4.682000	0.61671|0.61671|0.61671	2.821000|2.821000|2.821000	0.97095|0.97095|0.97095	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|GAG|AGC		0.507	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		53	78	0	0	0	1	0	53	78				
NDEL1	81565	broad.mit.edu	37	17	8363388	8363388	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8363388C>A	ENST00000334527.7	+	8	1051	c.854C>A	c.(853-855)tCc>tAc	p.S285Y	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.S285Y|NDEL1_ENST00000402554.3_Missense_Mutation_p.S285Y	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	285	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TCACGAAAATCCTATATTTCA	0.413																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(853-855)tCc>tAc		nudE neurodevelopment protein 1-like 1							144.0	136.0	139.0					17																	8363388		2203	4300	6503	SO:0001583	missense	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8363388C>A	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.854C>A	17.37:g.8363388C>A	ENSP00000333982:p.Ser285Tyr					NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000402554.3_Missense_Mutation_p.S285Y|NDEL1_ENST00000299734.7_Missense_Mutation_p.S285Y	p.S285Y	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			8	1051	+			285			Interaction with CENPF.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	c.854C>A	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479775	0.63849	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.0	5.0	0.66597	NUDE protein, C-terminal (1);	0.296992	0.39146	N	0.001446	T	0.71702	0.3371	L	0.43152	1.355	0.44024	D	0.996747	P;D	0.55385	0.909;0.971	P;P	0.60541	0.612;0.876	T	0.72956	-0.4134	9	0.59425	D	0.04	-1.7382	18.8403	0.92182	0.0:1.0:0.0:0.0	.	285;285	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	Y	285;285;340;285	.	ENSP00000299734:S285Y	S	+	2	0	NDEL1	8304113	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.447000	0.35101	2.761000	0.94854	0.491000	0.48974	TCC		0.413	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		10	121	1	0	4.68919e-08	1	5.58064e-08	10	121				
CCDC113	29070	broad.mit.edu	37	16	58292308	58292308	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58292308G>T	ENST00000219299.4	+	4	506	c.427G>T	c.(427-429)Gtt>Ttt	p.V143F	CCDC113_ENST00000443128.2_Missense_Mutation_p.V89F	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	143						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATGGAGTGAAGTTTCGAGAGA	0.413																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(427-429)Gtt>Ttt		coiled-coil domain containing 113							101.0	100.0	101.0					16																	58292308		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58292308G>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.427G>T	16.37:g.58292308G>T	ENSP00000219299:p.Val143Phe					CCDC113_ENST00000443128.2_Missense_Mutation_p.V89F	p.V143F	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			4	506	+			143					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.427G>T	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811394	0.32053	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.35236	1.37;1.32	5.18	0.803	0.18691	.	0.183359	0.46758	D	0.000270	T	0.37433	0.1003	M	0.65975	2.015	0.22050	N	0.999399	P;D	0.53619	0.933;0.961	B;P	0.50405	0.391;0.64	T	0.13926	-1.0491	10	0.41790	T	0.15	-7.4395	3.886	0.09099	0.361:0.1747:0.4643:0.0	.	89;143	B4DR20;Q9H0I3	.;CC113_HUMAN	F	89;143	ENSP00000402588:V89F;ENSP00000219299:V143F	ENSP00000219299:V143F	V	+	1	0	CCDC113	56849809	0.882000	0.30256	0.529000	0.27951	0.009000	0.06853	-0.009000	0.12765	0.688000	0.31529	0.655000	0.94253	GTT		0.413	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		36	59	1	0	1.836e-18	1	2.39396e-18	36	59				
NR3C1	2908	broad.mit.edu	37	5	142662143	142662143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142662143G>T	ENST00000343796.2	-	8	3164	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y	NR3C1_ENST00000394466.2_Missense_Mutation_p.S725Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S724Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S698Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S327Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S725Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S725Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	724	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TTCATGCATAGAATCCAAGAG	0.393																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2170-2172)tCt>tAt		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						107.0	103.0	104.0					5																	142662143		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142662143G>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2171C>A	5.37:g.142662143G>T	ENSP00000343205:p.Ser724Tyr					NR3C1_ENST00000231509.3_Missense_Mutation_p.S725Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S724Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S698Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S725Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S725Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S327Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S724Y	p.S724Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		8	3164	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	724			Steroid-binding.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.2171C>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452199	0.84209	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.77	5.77	0.91146	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	D	0.98693	1.0697	10	0.66056	D	0.02	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	724;724;725	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Y	724;724;540;724;698;725;725;725;327;724	ENSP00000377977:S724Y;ENSP00000343205:S724Y;ENSP00000387672:S724Y;ENSP00000405282:S698Y;ENSP00000422518:S725Y;ENSP00000377979:S725Y;ENSP00000231509:S725Y;ENSP00000404218:S327Y;ENSP00000427672:S724Y	ENSP00000231509:S725Y	S	-	2	0	NR3C1	142642336	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.814000	0.86154	2.885000	0.99019	0.655000	0.94253	TCT		0.393	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			23	48	1	0	3.28513e-13	1	4.1605e-13	23	48				
DCLRE1A	9937	broad.mit.edu	37	10	115601313	115601313	+	Missense_Mutation	SNP	G	G	A	rs536836799		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115601313G>A	ENST00000361384.2	-	7	3589	c.2672C>T	c.(2671-2673)gCt>gTt	p.A891V	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.A891V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	891					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TAAAACATCAGCAATGGCTAT	0.328								Other identified genes with known or suspected DNA repair function					G|||	1	0.000199681	0.0	0.0	5008	,	,		16290	0.0		0.0	False		,,,				2504	0.001					ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(2671-2673)gCt>gTt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							98.0	101.0	100.0					10																	115601313		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115601313G>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2672C>T	10.37:g.115601313G>A	ENSP00000355185:p.Ala891Val					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.A891V	p.A891V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	7	3589	-			891					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2672C>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174005	0.94807	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.76448	-1.02;-1.02	5.09	5.09	0.68999	.	0.117084	0.56097	D	0.000022	D	0.84138	0.5406	M	0.86864	2.845	0.80722	D	1	P	0.37525	0.598	B	0.43536	0.423	D	0.86317	0.1690	10	0.56958	D	0.05	-19.8406	16.6372	0.85062	0.0:0.0:1.0:0.0	.	891	Q6PJP8	DCR1A_HUMAN	V	891	ENSP00000355185:A891V;ENSP00000358311:A891V	ENSP00000355185:A891V	A	-	2	0	DCLRE1A	115591303	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.906000	0.92626	2.526000	0.85167	0.491000	0.48974	GCT		0.328	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		36	54	0	0	0	1	0	36	54				
LCP2	3937	broad.mit.edu	37	5	169689860	169689860	+	Silent	SNP	C	C	T	rs373086683		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169689860C>T	ENST00000046794.5	-	12	1419	c.804G>A	c.(802-804)tcG>tcA	p.S268S	LCP2_ENST00000521416.1_Silent_p.S63S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	268					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CCGCTGGAATCGAGGGCTGCA	0.423																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(802-804)tcG>tcA		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							135.0	133.0	134.0					5																	169689860		1973	4157	6130	SO:0001819	synonymous_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169689860C>T		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.804G>A	5.37:g.169689860C>T						LCP2_ENST00000521416.1_Silent_p.S63S	p.S268S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	12	1419	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	268					A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	c.804G>A	CCDS47339.1																																																																																				0.423	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		22	41	0	0	0	1	0	22	41				
CELSR3	1951	broad.mit.edu	37	3	48678801	48678801	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48678801C>T	ENST00000164024.4	-	33	9261	c.8981G>A	c.(8980-8982)aGt>aAt	p.S2994N	CELSR3_ENST00000544264.1_Missense_Mutation_p.S2999N|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2994					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCATCCCCACTGGTCAGGGC	0.662																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8995-8997)aGt>aAt		cadherin, EGF LAG seven-pass G-type receptor 3							60.0	70.0	66.0					3																	48678801		2202	4299	6501	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48678801C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8981G>A	3.37:g.48678801C>T	ENSP00000164024:p.Ser2994Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.S2994N	p.S2999N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	9276	-			2994					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8996G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645635	0.67358	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	5.22	4.34	0.51931	.	.	.	.	.	T	0.71753	0.3377	L	0.32530	0.975	0.51767	D	0.999939	B;B;D	0.63046	0.161;0.191;0.992	B;B;P	0.55749	0.073;0.045;0.783	T	0.72959	-0.4133	9	0.46703	T	0.11	.	15.1659	0.72825	0.1423:0.8577:0.0:0.0	.	2999;2994;3092	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2994;2999	ENSP00000164024:S2994N;ENSP00000445694:S2999N	ENSP00000164024:S2994N	S	-	2	0	CELSR3	48653805	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.493000	0.66899	1.173000	0.42796	0.514000	0.50259	AGT		0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	76	0	0	0	1	0	4	76				
CWF19L1	55280	broad.mit.edu	37	10	102005653	102005653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005653C>A	ENST00000354105.4	-	9	953	c.867G>T	c.(865-867)caG>caT	p.Q289H	CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q44H|CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	289							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CAAAGAAAAACTGACAGGCTG	0.413																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(865-867)caG>caT		CWF19-like 1, cell cycle control (S. pombe)							97.0	93.0	94.0					10																	102005653		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:102005653C>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.867G>T	10.37:g.102005653C>A	ENSP00000326411:p.Gln289His					CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q44H	p.Q289H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	9	953	-		Colorectal(252;0.117)	289					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.867G>T	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636508	0.67130	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.35421	1.31;1.31	5.78	-11.6	0.00059	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.71581	2.175	0.46028	D	0.998821	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.979	D	0.84186	0.0442	10	0.30854	T	0.27	-11.5313	23.748	0.99985	0.0:0.7578:0.0:0.2422	.	152;289	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	H	289;44	ENSP00000326411:Q289H;ENSP00000359405:Q44H	ENSP00000326411:Q289H	Q	-	3	2	CWF19L1	101995643	0.022000	0.18835	0.183000	0.23137	0.967000	0.64934	-1.028000	0.03589	-2.824000	0.00342	-0.964000	0.02622	CAG		0.413	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		23	49	1	0	1.22574e-08	1	1.47244e-08	23	49				
DHX38	9785	broad.mit.edu	37	16	72141442	72141442	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141442A>C	ENST00000268482.3	+	20	3313	c.2804A>C	c.(2803-2805)aAc>aCc	p.N935T	DHX38_ENST00000536867.1_Missense_Mutation_p.N247T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	935					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCCTGGACAACACAGGTGAG	0.592																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2803-2805)aAc>aCc		DEAH (Asp-Glu-Ala-His) box polypeptide 38							45.0	49.0	48.0					16																	72141442		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72141442A>C	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2804A>C	16.37:g.72141442A>C	ENSP00000268482:p.Asn935Thr					DHX38_ENST00000536867.1_Missense_Mutation_p.N247T	p.N935T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			20	3313	+		Ovarian(137;0.125)	935					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2804A>C	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723199	0.89298	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02682	4.2;4.2	5.43	5.43	0.79202	Helicase-associated domain (2);	0.110831	0.64402	D	0.000015	T	0.14570	0.0352	M	0.75264	2.295	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70016	0.967;0.959	T	0.00085	-1.2097	10	0.87932	D	0	.	15.3041	0.73979	1.0:0.0:0.0:0.0	.	247;935	B4DVG8;Q92620	.;PRP16_HUMAN	T	935;247	ENSP00000268482:N935T;ENSP00000437898:N247T	ENSP00000268482:N935T	N	+	2	0	DHX38	70698943	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.959000	0.93110	2.279000	0.76181	0.533000	0.62120	AAC		0.592	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		13	41	0	0	0	1	0	13	41				
GIGYF2	26058	broad.mit.edu	37	2	233710533	233710533	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233710533G>T	ENST00000409547.1	+	28	3708	c.3397G>T	c.(3397-3399)Gat>Tat	p.D1133Y	GIGYF2_ENST00000409196.3_Missense_Mutation_p.D1127Y|GIGYF2_ENST00000409451.3_Missense_Mutation_p.D1154Y|GIGYF2_ENST00000409480.1_Missense_Mutation_p.D1155Y|GIGYF2_ENST00000373563.4_Missense_Mutation_p.D1133Y|GIGYF2_ENST00000373566.3_Missense_Mutation_p.D1155Y	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1133					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TAAAGCCCAAGATGGATTTAC	0.423																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3463-3465)Gat>Tat		GRB10 interacting GYF protein 2							116.0	114.0	115.0					2																	233710533		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233710533G>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3397G>T	2.37:g.233710533G>T	ENSP00000386537:p.Asp1133Tyr					GIGYF2_ENST00000409451.3_Missense_Mutation_p.D1154Y|GIGYF2_ENST00000409196.3_Missense_Mutation_p.D1127Y|GIGYF2_ENST00000409480.1_Missense_Mutation_p.D1155Y|GIGYF2_ENST00000373563.4_Missense_Mutation_p.D1133Y|GIGYF2_ENST00000409547.1_Missense_Mutation_p.D1133Y	p.D1155Y			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3660	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1133					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3463G>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489340	0.84962	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.79033	-1.22;-1.23;-1.22;-1.23;-1.22;-1.22	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.90379	0.4386	10	0.87932	D	0	-25.1609	19.843	0.96697	0.0:0.0:1.0:0.0	.	1154;1133;1127	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	Y	1155;1133;1155;1133;1127;1154	ENSP00000362667:D1155Y;ENSP00000362664:D1133Y;ENSP00000386765:D1155Y;ENSP00000386537:D1133Y;ENSP00000387070:D1127Y;ENSP00000387170:D1154Y	ENSP00000362664:D1133Y	D	+	1	0	GIGYF2	233418777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	GAT		0.423	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		32	53	1	0	6.04164e-23	1	7.98701e-23	32	53				
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458													C|||	7	0.00139776	0.0	0.0043	5008	,	,		19508	0.0		0.004	False		,,,				2504	0.0					ENST00000295522.3																			0				lung(9)	9						c.(370-372)Gcg>Acg		claudin 1		C	THR/ALA	3,4403		0,3,2200	218.0	179.0	192.0		370	2.8	0.5	3	dbSNP_134	192	17,8583	5.0+/-18.6	0,17,4283	yes	missense	CLDN1	NM_021101.4	58	0,20,6483	TT,TC,CC		0.1977,0.0681,0.1538	benign	124/212	190030679	20,12986	2203	4300	6503	SO:0001583	missense	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190030679C>T	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.370G>A	3.37:g.190030679C>T	ENSP00000295522:p.Ala124Thr						p.A124T	NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	2	638	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		124						Missense_Mutation	SNP	ENST00000295522.3	37	c.370G>A	CCDS3295.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	16.00	2.999096	0.54147	6.81E-4	0.001977	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.89050	-2.46	6.04	2.79	0.32731	.	0.336788	0.35124	N	0.003435	T	0.79257	0.4415	N	0.25332	0.735	0.19575	N	0.999961	P	0.36183	0.542	B	0.42462	0.388	T	0.74219	-0.3736	10	0.72032	D	0.01	.	9.4241	0.38570	0.0:0.7291:0.0:0.2709	.	124	O95832	CLD1_HUMAN	T	124;79	ENSP00000295522:A124T	ENSP00000295522:A124T	A	-	1	0	CLDN1	191513373	0.000000	0.05858	0.453000	0.27007	0.753000	0.42808	0.332000	0.19751	0.637000	0.30526	0.561000	0.74099	GCG		0.458	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		8	123	0	0	0	1	0	8	123				
KNTC1	9735	broad.mit.edu	37	12	123067323	123067323	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123067323G>A	ENST00000333479.7	+	34	3231	c.3054G>A	c.(3052-3054)caG>caA	p.Q1018Q	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1018					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCCGTGAGCAGCACATTAAAG	0.483																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3052-3054)caG>caA		kinetochore associated 1							48.0	47.0	47.0					12																	123067323		1912	4122	6034	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123067323G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3054G>A	12.37:g.123067323G>A						KNTC1_ENST00000450485.2_Intron	p.Q1018Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	34	3231	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.3054G>A	CCDS45002.1																																																																																				0.483	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			11	17	0	0	0	1	0	11	17				
BTG3	10950	broad.mit.edu	37	21	18977277	18977277	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18977277T>G	ENST00000348354.6	-	3	468	c.212A>C	c.(211-213)gAt>gCt	p.D71A	BTG3_ENST00000339775.6_Missense_Mutation_p.D71A	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	71					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCAGGACATCAGGATCAAC	0.423																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(211-213)gAt>gCt		BTG family, member 3							93.0	87.0	89.0					21																	18977277		2203	4300	6503	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18977277T>G	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.212A>C	21.37:g.18977277T>G	ENSP00000284879:p.Asp71Ala					BTG3_ENST00000348354.6_Missense_Mutation_p.D71A	p.D71A	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	3	365	-			71					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.212A>C	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708620	0.48517	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	5.45	5.45	0.79879	Anti-proliferative protein (2);	0.051710	0.85682	D	0.000000	T	0.47507	0.1449	L	0.34521	1.04	0.40813	D	0.983444	P;P	0.47350	0.894;0.651	P;B	0.46320	0.512;0.201	T	0.42413	-0.9453	9	0.30854	T	0.27	-24.8371	14.1048	0.65080	0.0:0.0:0.0:1.0	.	71;71	Q14201-2;Q14201	.;BTG3_HUMAN	A	71	.	ENSP00000344609:D71A	D	-	2	0	BTG3	17899148	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	2.475000	0.45162	2.371000	0.80710	0.533000	0.62120	GAT		0.423	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		13	41	0	0	0	1	0	13	41				
XPO7	23039	broad.mit.edu	37	8	21856613	21856613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21856613C>A	ENST00000252512.9	+	23	2540	c.2440C>A	c.(2440-2442)Ctg>Atg	p.L814M	XPO7_ENST00000433566.4_Missense_Mutation_p.L815M|XPO7_ENST00000434536.1_Missense_Mutation_p.L823M	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	814					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAATCGCATCCTGACACTAGG	0.468																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2467-2469)Ctg>Atg		exportin 7							188.0	178.0	181.0					8																	21856613		2029	4199	6228	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21856613C>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2440C>A	8.37:g.21856613C>A	ENSP00000252512:p.Leu814Met					XPO7_ENST00000252512.9_Missense_Mutation_p.L814M|XPO7_ENST00000433566.4_Missense_Mutation_p.L815M	p.L823M			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	23	2569	+			814					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2467C>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911430	0.72983	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	4.06	0.47325	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.79343	2.45	0.80722	D	1	P;D;D	0.56035	0.94;0.974;0.974	P;P;P	0.54856	0.762;0.601;0.601	T	0.75439	-0.3317	10	0.40728	T	0.16	-8.3124	12.5517	0.56229	0.0:0.866:0.0:0.134	.	815;823;814	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	M	823;814;815	ENSP00000404853:L823M;ENSP00000252512:L814M;ENSP00000410249:L815M	ENSP00000252512:L814M	L	+	1	2	XPO7	21912559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.374000	0.52402	0.807000	0.34208	0.655000	0.94253	CTG		0.468	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		5	152	1	0	0.014758	1	0.0152625	5	152				
OR51G2	81282	broad.mit.edu	37	11	4936683	4936683	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4936683G>T	ENST00000322013.3	-	1	239	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGAGCCAGCATGGACAGG	0.478																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(211-213)Ctg>Atg		olfactory receptor, family 51, subfamily G, member 2							93.0	82.0	86.0					11																	4936683		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936683G>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.211C>A	11.37:g.4936683G>T	ENSP00000322593:p.Leu71Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L71M	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	239	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	71					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.211C>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675170	0.67928	.	.	ENSG00000176893	ENST00000322013	T	0.07216	3.21	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001128	T	0.39410	0.1077	H	0.95745	3.715	0.37404	D	0.912943	D	0.89917	1.0	D	0.91635	0.999	T	0.56019	-0.8048	10	0.87932	D	0	.	11.6791	0.51446	0.0803:0.0:0.9197:0.0	.	71	Q8NGK0	O51G2_HUMAN	M	71	ENSP00000322593:L71M	ENSP00000322593:L71M	L	-	1	2	OR51G2	4893259	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.491000	0.22419	2.906000	0.99361	0.655000	0.94253	CTG		0.478	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		12	32	1	0	2.80697e-09	1	3.39963e-09	12	32				
CUX2	23316	broad.mit.edu	37	12	111785894	111785894	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785894C>A	ENST00000261726.6	+	22	4380	c.4226C>A	c.(4225-4227)tCt>tAt	p.S1409Y		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1409	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCATGATGTCTGTGTCACCT	0.627																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4225-4227)tCt>tAt		cut-like homeobox 2							44.0	54.0	51.0					12																	111785894		2138	4239	6377	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785894C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4226C>A	12.37:g.111785894C>A	ENSP00000261726:p.Ser1409Tyr						p.S1409Y	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4380	+			1409			Pro-rich.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4226C>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051392	0.75960	.	.	ENSG00000111249	ENST00000261726	T	0.51574	0.7	5.64	4.72	0.59763	.	0.056350	0.64402	D	0.000001	T	0.60064	0.2240	L	0.57536	1.79	0.50171	D	0.999854	D	0.60575	0.988	P	0.57371	0.819	T	0.63924	-0.6527	10	0.66056	D	0.02	-10.3241	14.8516	0.70300	0.0:0.8072:0.1928:0.0	.	1409	O14529	CUX2_HUMAN	Y	1409	ENSP00000261726:S1409Y	ENSP00000261726:S1409Y	S	+	2	0	CUX2	110270277	0.999000	0.42202	0.997000	0.53966	0.992000	0.81027	4.303000	0.59098	1.252000	0.44001	0.655000	0.94253	TCT		0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		4	33	1	0	0.150653	1	0.152692	4	33				
NPAT	4863	broad.mit.edu	37	11	108068110	108068110	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108068110C>T	ENST00000278612.8	-	2	180	c.75G>A	c.(73-75)caG>caA	p.Q25Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	25	Interaction with MIZF.|LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.|Required for activation of histone gene transcription and interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATAAAAGTCTGGCAGGTAG	0.313																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(73-75)caG>caA		nuclear protein, ataxia-telangiectasia locus							99.0	99.0	99.0					11																	108068110		1795	4060	5855	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108068110C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.75G>A	11.37:g.108068110C>T							p.Q25Q	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	2	180	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	25			Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.75G>A	CCDS41710.1																																																																																				0.313	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		38	85	0	0	0	1	0	38	85				
KRT35	3886	broad.mit.edu	37	17	39635742	39635742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635742C>T	ENST00000393989.1	-	3	610	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	KRT35_ENST00000246639.2_Missense_Mutation_p.V160M	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	190	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CGCAGGGACACCTCCGTCTCA	0.587																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(478-480)Gtg>Atg		keratin 35							82.0	78.0	80.0					17																	39635742		2203	4300	6503	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635742C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.568G>A	17.37:g.39635742C>T	ENSP00000377558:p.Val190Met					KRT35_ENST00000393989.1_Missense_Mutation_p.V190M	p.V160M			Q92764	KRT35_HUMAN			3	610	-		Breast(137;0.000286)	190			Coil 1B.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.478G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046427	0.36085	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.88975	-2.45;-2.45	4.47	-2.69	0.06022	Filament (1);	0.950217	0.08636	N	0.916202	D	0.84028	0.5382	L	0.33189	0.99	0.26061	N	0.981352	B	0.22080	0.064	B	0.29077	0.098	T	0.73110	-0.4086	10	0.72032	D	0.01	.	13.6495	0.62301	0.1059:0.3115:0.5826:0.0	.	190	Q92764	KRT35_HUMAN	M	160;190	ENSP00000246639:V160M;ENSP00000377558:V190M	ENSP00000246639:V160M	V	-	1	0	KRT35	36889268	0.000000	0.05858	0.962000	0.40283	0.769000	0.43574	-1.688000	0.01925	-0.333000	0.08476	-0.176000	0.13171	GTG		0.587	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		29	40	0	0	0	1	0	29	40				
USP21	27005	broad.mit.edu	37	1	161134625	161134625	+	Splice_Site	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161134625A>T	ENST00000289865.8	+	11	1606	c.1385A>T	c.(1384-1386)cAt>cTt	p.H462L	PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Splice_Site_p.H462L|PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000368001.1_Splice_Site_p.H462L	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	462	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGCTTAGATCTGAATCGA	0.532																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.e12-1		ubiquitin specific peptidase 21							67.0	69.0	68.0					1																	161134625		2203	4300	6503	SO:0001630	splice_region_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161134625A>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1385-1A>T	1.37:g.161134625A>T						USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Splice_Site_p.H462_splice|USP21_ENST00000289865.8_Splice_Site_p.H462_splice	p.H462_splice	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		12	1762	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		462					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Splice_Site	SNP	ENST00000289865.8	37	c.1384_splice	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579775	0.65992	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.03663	3.85;3.85;3.85	4.72	4.72	0.59763	.	.	.	.	.	T	0.20820	0.0501	H	0.96604	3.85	0.46131	D	0.998888	.	.	.	.	.	.	T	0.29088	-1.0023	6	.	.	.	.	13.3436	0.60559	1.0:0.0:0.0:0.0	.	.	.	.	L	462	ENSP00000356981:H462L;ENSP00000289865:H462L;ENSP00000356980:H462L	.	H	+	2	0	USP21	159401249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.731000	0.84895	1.979000	0.57680	0.454000	0.30748	CAT		0.532	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		Missense_Mutation	21	54	0	0	0	1	0	21	54				
DIP2C	22982	broad.mit.edu	37	10	486879	486879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486879G>A	ENST00000280886.6	-	4	413	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Missense_Mutation_p.A2V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	109	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATAGGCACTGCCATCTTCCG	0.612																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(325-327)gCa>gTa		DIP2 disco-interacting protein 2 homolog C (Drosophila)							144.0	103.0	117.0					10																	486879		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:486879G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.326C>T	10.37:g.486879G>A	ENSP00000280886:p.Ala109Val					DIP2C_ENST00000381496.3_Missense_Mutation_p.A2V|RP11-490E15.2_ENST00000425723.2_RNA	p.A109V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	4	413	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	109					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.326C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550062	0.86127	.	.	ENSG00000151240	ENST00000280886;ENST00000381496;ENST00000423550	T;T;T	0.51325	0.71;0.74;0.71	4.46	4.46	0.54185	DMAP1-binding (1);	0.068385	0.64402	D	0.000020	T	0.46983	0.1421	L	0.51422	1.61	0.54753	D	0.999981	B	0.20368	0.044	B	0.31390	0.129	T	0.41698	-0.9494	10	0.30854	T	0.27	-17.2096	16.2723	0.82628	0.0:0.0:1.0:0.0	.	109	Q9Y2E4	DIP2C_HUMAN	V	109;2;165	ENSP00000280886:A109V;ENSP00000370907:A2V;ENSP00000408786:A165V	ENSP00000280886:A109V	A	-	2	0	DIP2C	476879	1.000000	0.71417	0.948000	0.38648	0.359000	0.29487	9.100000	0.94213	2.197000	0.70478	0.563000	0.77884	GCA		0.612	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		11	28	0	0	0	1	0	11	28				
PRPF4B	8899	broad.mit.edu	37	6	4050046	4050046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4050046C>T	ENST00000337659.6	+	9	2207	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R689*	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	703	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAATGTTGTACGAGCCAGAGA	0.398																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(2107-2109)Cga>Tga		pre-mRNA processing factor 4B							113.0	103.0	107.0					6																	4050046		2203	4300	6503	SO:0001587	stop_gained	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4050046C>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2107C>T	6.37:g.4050046C>T	ENSP00000337194:p.Arg703*					PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R689*	p.R703*	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			9	2207	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	703			Protein kinase.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Nonsense_Mutation	SNP	ENST00000337659.6	37	c.2107C>T	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	40	8.135862	0.98670	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.99	4.01	0.46588	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4456	0.83928	0.3144:0.6856:0.0:0.0	.	.	.	.	X	703;689	.	ENSP00000337194:R703X	R	+	1	2	PRPF4B	3995045	0.989000	0.36119	0.846000	0.33378	0.967000	0.64934	2.852000	0.48310	1.503000	0.48686	0.655000	0.94253	CGA		0.398	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			21	38	0	0	0	1	0	21	38				
P2RX7	5027	broad.mit.edu	37	12	121605290	121605290	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121605290G>T	ENST00000546057.1	+	8	887		c.e8-1		P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000535250.1_Splice_Site|P2RX7_ENST00000328963.5_Splice_Site|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000443520.3_Splice_Site	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7						apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATCCTTCAGGGCGGAATAA	0.512																																						ENST00000328963.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.e7-1		purinergic receptor P2X, ligand-gated ion channel, 7							196.0	149.0	165.0					12																	121605290		2203	4300	6503	SO:0001630	splice_region_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121605290G>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.745-1G>T	12.37:g.121605290G>T						P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000546057.1_Splice_Site|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000535250.1_Splice_Site|P2RX7_ENST00000443520.3_Splice_Site				A8K2Z0	A8K2Z0_HUMAN			7	688	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Splice_Site	SNP	ENST00000546057.1	37		CCDS9213.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334420	0.60853	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250	.	.	.	6.04	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5212	0.67851	0.072:0.0:0.928:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	P2RX7	120089673	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.758000	0.91663	2.873000	0.98535	0.563000	0.77884	.		0.512	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562	Intron	7	97	1	0	0.000157383	1	0.00017284	7	97				
RBM6	10180	broad.mit.edu	37	3	50005258	50005258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005258G>T	ENST00000266022.4	+	3	659	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D2Y	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	134					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACCACCTATGGACTATAGGGG	0.478																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(4-6)Gac>Tac		RNA binding motif protein 6							111.0	121.0	118.0					3																	50005258		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005258G>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.400G>T	3.37:g.50005258G>T	ENSP00000266022:p.Asp134Tyr					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D134Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	p.D2Y			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	923	+			134					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.4G>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218337	0.58560	.	.	ENSG00000004534	ENST00000266022;ENST00000443081;ENST00000416583	T;T	0.52754	1.01;0.65	5.88	5.88	0.94601	.	0.059446	0.64402	D	0.000004	T	0.64681	0.2620	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58070	-0.7701	9	.	.	.	-17.3227	20.2405	0.98372	0.0:0.0:1.0:0.0	.	134	P78332	RBM6_HUMAN	Y	134;2;134	ENSP00000266022:D134Y;ENSP00000396466:D2Y	.	D	+	1	0	RBM6	49980262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.952000	0.56691	2.797000	0.96272	0.561000	0.74099	GAC		0.478	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		46	84	1	0	1.23103e-26	1	1.64014e-26	46	84				
SEMA7A	8482	broad.mit.edu	37	15	74708206	74708206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74708206G>T	ENST00000261918.4	-	8	1470	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	SEMA7A_ENST00000543145.2_Missense_Mutation_p.L294M|SEMA7A_ENST00000542748.1_Missense_Mutation_p.L143M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	308	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TCAGGGAGCAGGAAGACGTCT	0.567																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(922-924)Ctg>Atg		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							131.0	107.0	115.0					15																	74708206		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708206G>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.922C>A	15.37:g.74708206G>T	ENSP00000261918:p.Leu308Met					SEMA7A_ENST00000543145.2_Missense_Mutation_p.L294M|SEMA7A_ENST00000542748.1_Missense_Mutation_p.L143M	p.L308M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			8	1470	-			308			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.922C>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071423	0.55646	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.25579	1.79;1.79;1.79	4.6	1.43	0.22495	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.246149	0.34338	N	0.004049	T	0.43166	0.1235	M	0.83774	2.66	0.43025	D	0.994583	D;D	0.65815	0.989;0.995	P;D	0.64410	0.878;0.925	T	0.34204	-0.9838	10	0.72032	D	0.01	-13.9324	3.1434	0.06463	0.2836:0.0:0.4303:0.2861	.	294;308	F5H1S0;O75326	.;SEM7A_HUMAN	M	308;294;143	ENSP00000261918:L308M;ENSP00000438966:L294M;ENSP00000441493:L143M	ENSP00000261918:L308M	L	-	1	2	SEMA7A	72495259	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.703000	0.25646	0.481000	0.27557	0.655000	0.94253	CTG		0.567	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		14	25	1	0	6.72482e-11	1	8.32712e-11	14	25				
CHD3	1107	broad.mit.edu	37	17	7802784	7802784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7802784C>T	ENST00000330494.7	+	15	2617	c.2467C>T	c.(2467-2469)Cgg>Tgg	p.R823W	CHD3_ENST00000380358.4_Missense_Mutation_p.R882W|CHD3_ENST00000358181.4_Missense_Mutation_p.R823W	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	823	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAAGGACAGCCGGGCCATCAT	0.498																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2644-2646)Cgg>Tgg		chromodomain helicase DNA binding protein 3							143.0	139.0	140.0					17																	7802784		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7802784C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2467C>T	17.37:g.7802784C>T	ENSP00000332628:p.Arg823Trp					CHD3_ENST00000358181.4_Missense_Mutation_p.R823W|CHD3_ENST00000330494.7_Missense_Mutation_p.R823W	p.R882W	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			15	2645	+		Prostate(122;0.202)	823			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2644C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588693	0.46110	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93488	-3.23;-3.23;-3.23	5.1	4.1	0.47936	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.42548	D	0.000689	D	0.97773	0.9269	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.98570	1.0645	10	0.87932	D	0	-23.3784	13.0015	0.58679	0.2935:0.7065:0.0:0.0	.	823;823;882	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	W	882;823;823	ENSP00000369716:R882W;ENSP00000350907:R823W;ENSP00000332628:R823W	ENSP00000332628:R823W	R	+	1	2	CHD3	7743509	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.320000	0.43797	1.474000	0.48178	0.561000	0.74099	CGG		0.498	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		63	113	0	0	0	1	0	63	113				
TPI1	7167	broad.mit.edu	37	12	6978315	6978315	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6978315G>A	ENST00000229270.4	+	3	740	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TPI1_ENST00000535434.1_Missense_Mutation_p.E16K|TPI1_ENST00000488464.2_Missense_Mutation_p.E16K|TPI1_ENST00000396705.5_Missense_Mutation_p.E98K	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	135					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGGGCACTCAGAGAGAAGGCA	0.522											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(403-405)Gag>Aag		triosephosphate isomerase 1							150.0	156.0	154.0					12																	6978315		2203	4300	6503	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6978315G>A		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.403G>A	12.37:g.6978315G>A	ENSP00000229270:p.Glu135Lys		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_ENST00000488464.2_Missense_Mutation_p.E16K|TPI1_ENST00000535434.1_Missense_Mutation_p.E16K|TPI1_ENST00000396705.5_Missense_Mutation_p.E98K	p.E135K	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			3	740	+			98					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.403G>A	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464248	0.96257	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.98060	-4.69;-4.69;-4.69	4.77	4.77	0.60923	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	D	0.99441	0.9802	H	0.99863	4.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97787	1.0236	10	0.87932	D	0	.	17.3971	0.87449	0.0:0.0:1.0:0.0	.	135	P60174	TPIS_HUMAN	K	135;98;16	ENSP00000229270:E135K;ENSP00000379933:E98K;ENSP00000443599:E16K	ENSP00000229270:E135K	E	+	1	0	TPI1	6848576	1.000000	0.71417	0.913000	0.36048	0.983000	0.72400	7.750000	0.85110	2.187000	0.69744	0.462000	0.41574	GAG		0.522	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		88	107	0	0	0	1	0	88	107				
GDF10	2662	broad.mit.edu	37	10	48429011	48429011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48429011G>A	ENST00000224605.2	-	2	1140	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	292					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGTGGCCTGCGCGGCTCGGCG	0.726																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(874-876)gCg>gTg		growth differentiation factor 10							6.0	9.0	8.0					10																	48429011		2118	4086	6204	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429011G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.875C>T	10.37:g.48429011G>A	ENSP00000224605:p.Ala292Val						p.A292V	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1140	-			292					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.875C>T	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	9.109	1.006135	0.19199	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.74315	-0.83	5.6	4.5	0.54988	.	0.311213	0.34906	N	0.003587	T	0.54806	0.1881	N	0.12746	0.255	0.09310	N	1	B;B	0.24426	0.103;0.029	B;B	0.10450	0.004;0.005	T	0.32798	-0.9893	10	0.19147	T	0.46	.	14.4645	0.67475	0.0831:0.0:0.9169:0.0	.	102;292	Q8N6T2;P55107	.;BMP3B_HUMAN	V	102;292	ENSP00000224605:A292V	ENSP00000224605:A292V	A	-	2	0	GDF10	48049017	0.270000	0.24152	0.166000	0.22797	0.232000	0.25224	2.402000	0.44521	2.653000	0.90120	0.561000	0.74099	GCG		0.726	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		6	8	0	0	0	1	0	6	8				
DST	667	broad.mit.edu	37	6	56400023	56400023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56400023T>A	ENST00000361203.3	-	59	16212	c.16205A>T	c.(16204-16206)gAg>gTg	p.E5402V	DST_ENST00000244364.6_Missense_Mutation_p.E2990V|DST_ENST00000370769.4_Missense_Mutation_p.E5404V|DST_ENST00000446842.2_Missense_Mutation_p.E5078V|DST_ENST00000421834.2_Missense_Mutation_p.E3316V|DST_ENST00000370788.2_Missense_Mutation_p.E3316V|DST_ENST00000370754.5_Missense_Mutation_p.E5582V|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5402					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGCAGGGACTCCAGGGCATC	0.552																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16744-16746)gAg>gTg		dystonin							79.0	85.0	83.0					6																	56400023		1971	4157	6128	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56400023T>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16205A>T	6.37:g.56400023T>A	ENSP00000354508:p.Glu5402Val					DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E5404V|DST_ENST00000421834.2_Missense_Mutation_p.E3316V|DST_ENST00000370788.2_Missense_Mutation_p.E3316V|DST_ENST00000244364.6_Missense_Mutation_p.E2990V|DST_ENST00000361203.3_Missense_Mutation_p.E5402V|DST_ENST00000446842.2_Missense_Mutation_p.E5078V|DST_ENST00000340834.4_5'UTR	p.E5582V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		63	16744	-	Lung NSC(77;0.103)		5402					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16745A>T		.	.	.	.	.	.	.	.	.	.	T	22.4	4.281060	0.80692	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000037	T	0.54743	0.1877	M	0.79123	2.44	0.34906	D	0.747034	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.964	T	0.59107	-0.7516	9	0.52906	T	0.07	.	16.35	0.83199	0.0:0.0:0.0:1.0	.	3316;5404;5582;5402;2990	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	2990;5582;5404;3316;5078;3316;5402	ENSP00000244364:E2990V;ENSP00000359790:E5582V;ENSP00000359805:E5404V;ENSP00000400883:E3316V;ENSP00000393645:E5078V;ENSP00000359824:E3316V;ENSP00000354508:E5402V	ENSP00000244364:E2990V	E	-	2	0	DST	56507982	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.004000	0.88535	2.270000	0.75569	0.528000	0.53228	GAG		0.552	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		6	78	0	0	0	1	0	6	78				
EP300	2033	broad.mit.edu	37	22	41574489	41574489	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574489G>T	ENST00000263253.7	+	31	7993	c.6774G>T	c.(6772-6774)caG>caT	p.Q2258H	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2258					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGTCTACAGGCCTATCAGC	0.582			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6772-6774)caG>caT		E1A binding protein p300							89.0	94.0	92.0					22																	41574489		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574489G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6774G>T	22.37:g.41574489G>T	ENSP00000263253:p.Gln2258His					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.Q2258H	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7993	+			2258					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6774G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888990	0.33348	.	.	ENSG00000100393	ENST00000263253	D	0.85773	-2.03	5.5	4.49	0.54785	.	0.000000	0.44688	D	0.000429	D	0.90317	0.6971	M	0.62723	1.935	0.40891	D	0.984073	D	0.61697	0.99	D	0.72982	0.979	D	0.90481	0.4460	10	0.46703	T	0.11	-5.5513	14.037	0.64651	0.0724:0.0:0.9276:0.0	.	2258	Q09472	EP300_HUMAN	H	2258	ENSP00000263253:Q2258H	ENSP00000263253:Q2258H	Q	+	3	2	EP300	39904435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.557000	0.60782	1.323000	0.45263	0.655000	0.94253	CAG		0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		18	25	1	0	1.33834e-09	1	1.62941e-09	18	25				
CNOT11	55571	broad.mit.edu	37	2	101881457	101881457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101881457G>A	ENST00000289382.3	+	4	1146	c.983G>A	c.(982-984)cGa>cAa	p.R328Q		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	328					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GAGATCAAACGAATAATGGCC	0.418																																						ENST00000289382.3																			0											c.(982-984)cGa>cAa		CCR4-NOT transcription complex, subunit 11							110.0	103.0	106.0					2																	101881457		2203	4300	6503	SO:0001583	missense	55571							g.chr2:101881457G>A	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.983G>A	2.37:g.101881457G>A	ENSP00000289382:p.Arg328Gln						p.R328Q	NM_017546.4	NP_060016.3					4	1146	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.983G>A	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219390	0.79464	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.97	5.1	0.69264	.	0.114641	0.64402	D	0.000012	T	0.42268	0.1195	L	0.49350	1.555	0.80722	D	1	D	0.56035	0.974	B	0.34093	0.175	T	0.42378	-0.9455	9	0.33940	T	0.23	-14.2694	15.1719	0.72881	0.0674:0.0:0.9326:0.0	.	328	Q9UKZ1	CB029_HUMAN	Q	328	.	ENSP00000289382:R328Q	R	+	2	0	C2orf29	101247889	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.731000	0.98807	1.546000	0.49388	-0.136000	0.14681	CGA		0.418	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		26	28	0	0	0	1	0	26	28				
CADM1	23705	broad.mit.edu	37	11	115080356	115080356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115080356G>T	ENST00000452722.3	-	8	1036	c.1016C>A	c.(1015-1017)cCt>cAt	p.P339H	CADM1_ENST00000331581.6_Missense_Mutation_p.P339H|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Missense_Mutation_p.P339H|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tgttgtggGAGGAGGGATAGT	0.443																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1015-1017)cCt>cAt		cell adhesion molecule 1							49.0	55.0	53.0					11																	115080356		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080356G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1016C>A	11.37:g.115080356G>T	ENSP00000395359:p.Pro339His					CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.P339H|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.P339H	p.P339H			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1036	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	339	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Missense_Mutation	SNP	ENST00000452722.3	37	c.1016C>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127191	0.37533	.	.	ENSG00000182985	ENST00000452722;ENST00000537058;ENST00000331581;ENST00000541325	T;T;T	0.66638	-0.22;0.08;-0.2	5.82	4.9	0.64082	Immunoglobulin-like fold (1);	0.439260	0.19091	U	0.122955	T	0.64897	0.2640	N	0.22421	0.69	0.32028	N	0.599894	D	0.54397	0.966	P	0.52672	0.706	T	0.71513	-0.4570	10	0.48119	T	0.1	.	15.5223	0.75875	0.0:0.0:0.8608:0.1391	.	339	Q9BY67	CADM1_HUMAN	H	339;339;339;13	ENSP00000395359:P339H;ENSP00000439817:P339H;ENSP00000329797:P339H	ENSP00000329797:P339H	P	-	2	0	CADM1	114585566	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.724000	0.61972	1.459000	0.47892	-0.287000	0.09952	CCT		0.443	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	50	1	0	0.00198382	1	0.00210581	7	50				
PKHD1L1	93035	broad.mit.edu	37	8	110456104	110456104	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110456104C>A	ENST00000378402.5	+	37	4868	c.4764C>A	c.(4762-4764)ggC>ggA	p.G1588G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1588	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACATGGCTTTAGTAATC	0.328										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4762-4764)ggC>ggA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							99.0	95.0	97.0					8																	110456104		1819	4077	5896	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456104C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4764C>A	8.37:g.110456104C>A		HNSCC(38;0.096)					p.G1588G	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	4868	+			1588			IPT/TIG 8.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.4764C>A	CCDS47911.1																																																																																				0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		22	40	1	0	5.45024e-15	1	6.98109e-15	22	40				
MKRN3	7681	broad.mit.edu	37	15	23812185	23812185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23812185A>C	ENST00000314520.3	+	1	1732	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	419					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTTTTACAAGCATGAATAC	0.522																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1255-1257)aAg>aCg		makorin ring finger protein 3							90.0	88.0	88.0					15																	23812185		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812185A>C	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1256A>C	15.37:g.23812185A>C	ENSP00000313881:p.Lys419Thr					MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.K419T	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1732	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	419						Missense_Mutation	SNP	ENST00000314520.3	37	c.1256A>C	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329230	0.41197	.	.	ENSG00000179455	ENST00000314520	T	0.37411	1.2	4.01	0.334	0.15948	Zinc finger, CCCH-type (2);	0.056402	0.64402	D	0.000002	T	0.52549	0.1741	M	0.82823	2.61	0.54753	D	0.999987	D	0.69078	0.997	P	0.61397	0.888	T	0.52215	-0.8605	10	0.62326	D	0.03	.	7.5576	0.27833	0.7197:0.0:0.2803:0.0	.	419	Q13064	MKRN3_HUMAN	T	419	ENSP00000313881:K419T	ENSP00000313881:K419T	K	+	2	0	MKRN3	21363278	0.922000	0.31269	0.997000	0.53966	0.415000	0.31203	0.791000	0.26915	0.039000	0.15632	0.533000	0.62120	AAG		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		4	62	0	0	0	1	0	4	62				
PABPC4	8761	broad.mit.edu	37	1	40035600	40035600	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40035600A>G	ENST00000372857.3	-	4	1370	c.578T>C	c.(577-579)gTt>gCt	p.V193A	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.V193A|PABPC4_ENST00000529216.1_5'UTR|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.V193A|PABPC4_ENST00000372862.3_Missense_Mutation_p.V193A	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	193	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGATATAAACATTGGTGAA	0.428																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(577-579)gTt>gCt		poly(A) binding protein, cytoplasmic 4 (inducible form)							110.0	100.0	103.0					1																	40035600		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40035600A>G	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.578T>C	1.37:g.40035600A>G	ENSP00000361948:p.Val193Ala					PABPC4_ENST00000372856.3_Missense_Mutation_p.V193A|PABPC4_ENST00000372862.3_Missense_Mutation_p.V193A|PABPC4_ENST00000372858.3_Missense_Mutation_p.V193A|PABPC4_ENST00000529216.1_5'UTR|RP11-69E11.8_ENST00000415255.1_RNA	p.V193A	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	1370	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	193			RRM 3.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.578T>C	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.183043|5.183043	0.94885|0.94885	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000474378|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.09630	.|2.96;2.96;2.96;2.96	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42154|0.42154	0.1190|0.1190	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.975;0.999;0.999	.|D;D;D	.|0.79784	.|0.912;0.953;0.993	T|T	0.50980|0.50980	-0.8763|-0.8763	5|10	.|0.87932	.|D	.|0	.|.	16.4484|16.4484	0.83959|0.83959	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|193;193;193	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	L|A	95;106|193	.|ENSP00000361953:V193A;ENSP00000361949:V193A;ENSP00000361948:V193A;ENSP00000361947:V193A	.|ENSP00000361947:V193A	F|V	-|-	1|2	0|0	PABPC4|PABPC4	39808187|39808187	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.981000|0.981000	0.71138|0.71138	9.339000|9.339000	0.96797|0.96797	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|GTT		0.428	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		43	56	0	0	0	1	0	43	56				
USHBP1	83878	broad.mit.edu	37	19	17370173	17370173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17370173C>T	ENST00000252597.3	-	7	1144	c.971G>A	c.(970-972)cGc>cAc	p.R324H	USHBP1_ENST00000431146.2_Missense_Mutation_p.R260H	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCTTCACAGCGGCCCTTGTA	0.562																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(970-972)cGc>cAc		Usher syndrome 1C binding protein 1							71.0	68.0	69.0					19																	17370173		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17370173C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.971G>A	19.37:g.17370173C>T	ENSP00000252597:p.Arg324His					USHBP1_ENST00000431146.2_Missense_Mutation_p.R260H	p.R324H	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			7	1144	-			324						Missense_Mutation	SNP	ENST00000252597.3	37	c.971G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346195	0.24426	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T;T	0.47177	0.85;0.85;0.85	5.32	-1.27	0.09347	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.708561	0.13178	N	0.407765	T	0.25005	0.0607	N	0.16098	0.37	0.26012	N	0.981977	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.10450	0.002;0.005;0.002	T	0.13335	-1.0513	10	0.46703	T	0.11	-13.5793	4.9726	0.14123	0.1401:0.474:0.0:0.3859	.	260;324;324	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	H	324;260;324	ENSP00000252597:R324H;ENSP00000407902:R260H;ENSP00000324174:R324H	ENSP00000252597:R324H	R	-	2	0	USHBP1	17231173	0.844000	0.29557	0.867000	0.34043	0.963000	0.63663	0.546000	0.23284	-0.143000	0.11334	-0.813000	0.03139	CGC		0.562	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		23	27	0	0	0	1	0	23	27				
NAALADL1	10004	broad.mit.edu	37	11	64811906	64811906	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64811906G>A	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000398846.1_Missense_Mutation_p.A262T|SAC3D1_ENST00000531072.1_Missense_Mutation_p.A262T	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGCCCGCTTCGCTCGTGCCTT	0.657																																						ENST00000398846.1																			0				endometrium(2)|lung(1)	3						c.(784-786)Gct>Act		SAC3 domain containing 1							51.0	58.0	56.0					11																	64811906		2049	4186	6235	SO:0001628	intergenic_variant	29901							g.chr11:64811906G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		11.37:g.64811906G>A						SAC3D1_ENST00000531072.1_Missense_Mutation_p.A262T|SAC3D1_ENST00000530213.1_3'UTR	p.A262T	NM_013299.3	NP_037431.3					2	1173	+								C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.784G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.000520	0.00431	.	.	ENSG00000168061	ENST00000531072;ENST00000398846;ENST00000301885	T;T	0.28895	1.59;1.59	4.72	0.562	0.17290	.	0.564267	0.14660	N	0.306023	T	0.20780	0.0500	L	0.54323	1.7	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.26018	-1.0115	10	0.21540	T	0.41	-0.0035	0.8394	0.01146	0.2768:0.1555:0.396:0.1717	.	308	A6NKF1	SAC31_HUMAN	T	262;262;307	ENSP00000436649:A262T;ENSP00000381824:A262T	ENSP00000301885:A307T	A	+	1	0	SAC3D1	64568482	0.020000	0.18652	0.030000	0.17652	0.063000	0.16089	0.166000	0.16583	-0.055000	0.13244	-0.172000	0.13284	GCT		0.657	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		4	64	0	0	0	1	0	4	64				
CTNNA1	1495	broad.mit.edu	37	5	138264967	138264967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138264967G>A	ENST00000302763.7	+	14	2022	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	CTNNA1_ENST00000518825.1_Silent_p.E644E|CTNNA1_ENST00000355078.5_Silent_p.E541E|CTNNA1_ENST00000540387.1_Silent_p.E274E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	644					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGACTTTGAGACAGAAGATT	0.582																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1930-1932)gaG>gaA		catenin (cadherin-associated protein), alpha 1, 102kDa							112.0	113.0	112.0					5																	138264967		2203	4300	6503	SO:0001819	synonymous_variant	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138264967G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1932G>A	5.37:g.138264967G>A						CTNNA1_ENST00000355078.5_Silent_p.E541E|CTNNA1_ENST00000540387.1_Silent_p.E274E|CTNNA1_ENST00000518825.1_Silent_p.E644E	p.E644E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	2022	+			644					Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	c.1932G>A	CCDS34243.1																																																																																				0.582	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		31	51	0	0	0	1	0	31	51				
ACE2	59272	broad.mit.edu	37	X	15584454	15584454	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15584454A>T	ENST00000252519.3	-	16	2138	c.2036T>A	c.(2035-2037)aTc>aAc	p.I679N	ACE2_ENST00000471548.1_5'Flank|ACE2_ENST00000427411.1_Missense_Mutation_p.I679N			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	679					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ATTAAAGGAGATTCTTGGTTT	0.383																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(2035-2037)aTc>aAc		angiotensin I converting enzyme 2	Moexipril(DB00691)						161.0	153.0	156.0					X																	15584454		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15584454A>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2036T>A	X.37:g.15584454A>T	ENSP00000252519:p.Ile679Asn					ACE2_ENST00000252519.3_Missense_Mutation_p.I679N	p.I679N	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			17	2252	-	Hepatocellular(33;0.183)		679					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.2036T>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780603	0.49891	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.86030	-2.06;-2.06	5.68	4.49	0.54785	.	0.267324	0.41605	N	0.000842	D	0.89322	0.6682	M	0.81942	2.565	0.30192	N	0.799379	P	0.45715	0.865	P	0.52957	0.714	D	0.87120	0.2190	10	0.87932	D	0	-6.9202	10.3641	0.44012	0.851:0.0:0.0:0.149	.	679	Q9BYF1	ACE2_HUMAN	N	679	ENSP00000252519:I679N;ENSP00000389326:I679N	ENSP00000252519:I679N	I	-	2	0	ACE2	15494375	1.000000	0.71417	0.866000	0.34008	0.149000	0.21700	8.478000	0.90428	0.732000	0.32470	0.486000	0.48141	ATC		0.383	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			80	126	0	0	0	1	0	80	126				
SUMF2	25870	broad.mit.edu	37	7	56140721	56140721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56140721G>T	ENST00000413756.1	+	3	279	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	SUMF2_ENST00000437307.2_Nonsense_Mutation_p.E86*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.E105*|SUMF2_ENST00000434526.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000395435.2_Nonsense_Mutation_p.E105*			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	86					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTATCGGACAGAAGCTGAGAT	0.483																																						ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(313-315)Gaa>Taa		sulfatase modifying factor 2							142.0	141.0	142.0					7																	56140721		2203	4300	6503	SO:0001587	stop_gained	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56140721G>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.256G>T	7.37:g.56140721G>T	ENSP00000406445:p.Glu86*					SUMF2_ENST00000395435.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.E105*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.E86*|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.E86*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.E105*	p.E105*	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	344	+	Breast(14;0.214)		86					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Nonsense_Mutation	SNP	ENST00000413756.1	37	c.313G>T		.	.	.	.	.	.	.	.	.	.	G	29.8	5.036982	0.93630	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-41.8328	18.6989	0.91613	0.0:0.0:1.0:0.0	.	.	.	.	X	105;105;105;108;105;86;86;83	.	ENSP00000341938:E105X	E	+	1	0	SUMF2	56108215	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.122000	0.94380	2.832000	0.97577	0.655000	0.94253	GAA		0.483	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		4	48	1	0	5.9392e-07	1	6.91975e-07	4	48				
ELN	2006	broad.mit.edu	37	7	73477524	73477524	+	Missense_Mutation	SNP	G	G	A	rs140425210	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73477524G>A	ENST00000252034.7	+	27	2227	c.1828G>A	c.(1828-1830)Ggt>Agt	p.G610S	ELN_ENST00000380553.4_Missense_Mutation_p.G474S|ELN_ENST00000380562.4_Missense_Mutation_p.G616S|ELN_ENST00000358929.4_Missense_Mutation_p.G678S|ELN_ENST00000429192.1_Missense_Mutation_p.G596S|ELN_ENST00000320399.6_Missense_Mutation_p.G643S|ELN_ENST00000445912.1_Missense_Mutation_p.G610S|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380575.4_Missense_Mutation_p.G581S|ELN_ENST00000380576.5_Missense_Mutation_p.G591S|ELN_ENST00000380584.4_Missense_Mutation_p.G562S|ELN_ENST00000320492.7_Missense_Mutation_p.G529S|ELN_ENST00000458204.1_Missense_Mutation_p.G600S|ELN_ENST00000357036.5_Missense_Mutation_p.G615S|ELN_ENST00000414324.1_Missense_Mutation_p.G586S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.		G -> R (in dbSNP:rs17855988). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9215670}.		blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CGGGGCTCTCGGTGGAGTAGG	0.622			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						G|||	14	0.00279553	0.0106	0.0	5008	,	,		16353	0.0		0.0	False		,,,				2504	0.0					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1828-1830)Ggt>Agt		elastin	Rofecoxib(DB00533)	G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	40,4364	42.3+/-75.8	0,40,2162	60.0	55.0	57.0		1828,1741,1786,1843,1771	3.8	0.4	7	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	ELN	NM_000501.2,NM_001081752.1,NM_001081753.1,NM_001081754.1,NM_001081755.1	56,56,56,56,56	0,41,6461	AA,AG,GG		0.0116,0.9083,0.3153	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	610/725,581/678,596/693,615/712,591/706	73477524	41,12963	2202	4300	6502	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73477524G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1828G>A	7.37:g.73477524G>A	ENSP00000252034:p.Gly610Ser					ELN_ENST00000380575.4_Missense_Mutation_p.G581S|ELN_ENST00000380562.4_Missense_Mutation_p.G616S|ELN_ENST00000320492.7_Missense_Mutation_p.G529S|ELN_ENST00000380553.4_Missense_Mutation_p.G474S|ELN_ENST00000357036.5_Missense_Mutation_p.G615S|ELN_ENST00000380584.4_Missense_Mutation_p.G562S|ELN_ENST00000320399.6_Missense_Mutation_p.G643S|ELN_ENST00000458204.1_Missense_Mutation_p.G600S|ELN_ENST00000380576.5_Missense_Mutation_p.G591S|ELN_ENST00000445912.1_Missense_Mutation_p.G610S|ELN_ENST00000414324.1_Missense_Mutation_p.G586S|ELN_ENST00000429192.1_Missense_Mutation_p.G596S|ELN_ENST00000358929.4_Missense_Mutation_p.G678S	p.G610S	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			27	2227	+		Lung NSC(55;0.159)	672		G -> R (in dbSNP:rs17855988).	Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1828G>A	CCDS5562.2	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	17.13	3.311414	0.60414	0.009083	1.16E-4	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	1.13;1.06;0.94;1.14;1.13;1.07;1.11;1.12;1.13;1.11;1.11;1.01;1.14;0.52	3.8	3.8	0.43715	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.26775	N	0.969717	D;D;D;D;D;D;D;D;D;D;D;D;D	0.56035	0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974	P;P;P;P;P;P;P;P;P;P;P;P;P	0.47573	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	T	0.43766	-0.9371	8	0.54805	T	0.06	-0.7295	11.9812	0.53121	0.0:0.0:1.0:0.0	.	610;529;586;600;616;581;596;615;591;474;521;562;610	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	S	610;610;678;529;586;616;581;562;600;615;596;549;474;591;643	ENSP00000389857:G610S;ENSP00000252034:G610S;ENSP00000351807:G678S;ENSP00000315607:G529S;ENSP00000392575:G586S;ENSP00000369936:G616S;ENSP00000369949:G581S;ENSP00000369958:G562S;ENSP00000403162:G600S;ENSP00000349540:G615S;ENSP00000391129:G596S;ENSP00000369926:G474S;ENSP00000369950:G591S;ENSP00000313565:G643S	ENSP00000252034:G610S	G	+	1	0	ELN	73115460	0.244000	0.23889	0.363000	0.25875	0.328000	0.28507	2.993000	0.49425	2.075000	0.62263	0.456000	0.33151	GGT		0.622	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		12	11	0	0	0	1	0	12	11				
SLC22A9	114571	broad.mit.edu	37	11	63141203	63141203	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63141203T>C	ENST00000279178.3	+	3	843	c.594T>C	c.(592-594)atT>atC	p.I198I	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	198					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTCCTCATTTACTGCTCAC	0.458																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(592-594)atT>atC		solute carrier family 22 (organic anion transporter), member 9							175.0	151.0	159.0					11																	63141203		2201	4298	6499	SO:0001819	synonymous_variant	114571				transmembrane transport	integral to membrane		g.chr11:63141203T>C	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.594T>C	11.37:g.63141203T>C						SLC22A9_ENST00000310969.4_Intron	p.I198I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			3	843	+			198					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	ENST00000279178.3	37	c.594T>C	CCDS8043.1																																																																																				0.458	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		7	135	0	0	0	1	0	7	135				
CEP250	11190	broad.mit.edu	37	20	34092805	34092805	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34092805A>G	ENST00000397527.1	+	30	7328	c.6608A>G	c.(6607-6609)gAg>gGg	p.E2203G	CEP250_ENST00000342580.4_Missense_Mutation_p.E2147G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2203					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTGTCCTGGAGCGGGACTCA	0.607																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(6607-6609)gAg>gGg		centrosomal protein 250kDa							37.0	30.0	33.0					20																	34092805		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34092805A>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6608A>G	20.37:g.34092805A>G	ENSP00000380661:p.Glu2203Gly					CEP250_ENST00000342580.4_Missense_Mutation_p.E2147G	p.E2203G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	7328	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2203					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6608A>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131171	0.77549	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.61859	2.5;2.46;0.07	4.77	4.77	0.60923	.	0.097482	0.45126	D	0.000392	T	0.68421	0.2999	M	0.76574	2.34	0.31643	N	0.647795	D	0.59357	0.985	P	0.54270	0.747	T	0.76806	-0.2823	10	0.87932	D	0	.	12.6802	0.56918	1.0:0.0:0.0:0.0	.	2203	Q9BV73	CP250_HUMAN	G	2203;2147;691	ENSP00000380661:E2203G;ENSP00000341541:E2147G;ENSP00000395992:E691G	ENSP00000341541:E2147G	E	+	2	0	CEP250	33556219	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.547000	0.73892	2.015000	0.59207	0.533000	0.62120	GAG		0.607	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		4	15	0	0	0	1	0	4	15				
TIAM1	7074	broad.mit.edu	37	21	32502548	32502548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:32502548C>T	ENST00000286827.3	-	26	4499	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1343	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1343L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAAGCTCGAACCTGCAG	0.483																																						ENST00000286827.3																			2	Substitution - Missense(2)	p.R1343L(2)	lung(2)	autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4027-4029)cGa>cAa		T-cell lymphoma invasion and metastasis 1							173.0	171.0	172.0					21																	32502548		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32502548C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4028G>A	21.37:g.32502548C>T	ENSP00000286827:p.Arg1343Gln					TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283Q	p.R1343Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			26	4499	-			1343			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4028G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700704	0.88924	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.54866	0.55;0.57	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.50860	0.652;0.45;0.45	T	0.70008	-0.4990	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1283;1283;1343	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Q	1343;1283	ENSP00000286827:R1343Q;ENSP00000441570:R1283Q	ENSP00000286827:R1343Q	R	-	2	0	TIAM1	31424419	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	7.465000	0.80898	2.854000	0.98071	0.655000	0.94253	CGA		0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		76	163	0	0	0	1	0	76	163				
DAXX	1616	broad.mit.edu	37	6	33286883	33286883	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33286883C>A	ENST00000374542.5	-	7	2258	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.R685M|DAXX_ENST00000414083.2_Missense_Mutation_p.R610M|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	685	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGAGTCCACCCTCGTGGAGGA	0.602			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(2053-2055)aGg>aTg		death-domain associated protein							74.0	80.0	78.0					6																	33286883		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33286883C>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.2054G>T	6.37:g.33286883C>A	ENSP00000363668:p.Arg685Met					DAXX_ENST00000414083.2_Missense_Mutation_p.R610M|DAXX_ENST00000266000.6_Missense_Mutation_p.R685M	p.R685M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			7	2258	-			685			Interaction with SPOP.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.2054G>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671152	0.67814	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	5.26	5.26	0.73747	.	0.081675	0.47852	D	0.000204	T	0.68311	0.2987	M	0.65975	2.015	0.36992	D	0.894824	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71941	-0.4440	9	0.72032	D	0.01	-14.6183	14.2357	0.65925	0.0:1.0:0.0:0.0	.	697;685	B4E1C1;Q9UER7	.;DAXX_HUMAN	M	685;685;610	.	ENSP00000266000:R685M	R	-	2	0	DAXX	33394861	0.874000	0.30092	0.989000	0.46669	0.761000	0.43186	4.724000	0.61972	2.736000	0.93811	0.643000	0.83706	AGG		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			11	84	1	0	0.0135373	1	0.0140872	11	84				
FBP1	2203	broad.mit.edu	37	9	97380054	97380054	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97380054C>A	ENST00000375326.4	-	3	618	c.422G>T	c.(421-423)aGa>aTa	p.R141I	FBP1_ENST00000415431.1_Missense_Mutation_p.R141I	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	141					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTTTACCTTTCTATAGATGCC	0.443																																					Ovarian(142;590 2466 25593 44496)	ENST00000415431.1																			0				kidney(1)|liver(1)|lung(1)	3						c.(421-423)aGa>aTa		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						83.0	69.0	74.0					9																	97380054		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97380054C>A	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.422G>T	9.37:g.97380054C>A	ENSP00000364475:p.Arg141Ile					FBP1_ENST00000375326.4_Missense_Mutation_p.R141I	p.R141I	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN			4	651	-		Acute lymphoblastic leukemia(62;0.136)	141					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.422G>T	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807231	0.50421	.	.	ENSG00000165140	ENST00000375326;ENST00000415431;ENST00000414122	T;T;T	0.73681	-0.77;-0.77;-0.77	6.01	0.751	0.18392	.	0.273347	0.45126	D	0.000385	T	0.73613	0.3609	M	0.82923	2.615	0.80722	D	1	B	0.22276	0.067	B	0.23419	0.046	T	0.68914	-0.5283	10	0.72032	D	0.01	-8.7499	10.6184	0.45465	0.0:0.5081:0.0:0.4919	.	141	P09467	F16P1_HUMAN	I	141;141;57	ENSP00000364475:R141I;ENSP00000408025:R141I;ENSP00000411619:R57I	ENSP00000364475:R141I	R	-	2	0	FBP1	96419875	0.459000	0.25768	0.992000	0.48379	0.367000	0.29736	-0.119000	0.10676	-0.118000	0.11851	-0.355000	0.07637	AGA		0.443	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		12	22	1	0	3.07112e-06	1	3.52574e-06	12	22				
HLTF	6596	broad.mit.edu	37	3	148759321	148759321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148759321C>T	ENST00000310053.5	-	20	2525	c.2332G>A	c.(2332-2334)Gta>Ata	p.V778I	HLTF_ENST00000392912.2_Missense_Mutation_p.V778I|HLTF_ENST00000465259.1_Missense_Mutation_p.V777I|HLTF_ENST00000494055.1_Missense_Mutation_p.V778I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	778					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTACAAAATACATGTGCACAA	0.378																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2332-2334)Gta>Ata		helicase-like transcription factor							130.0	125.0	127.0					3																	148759321		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148759321C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2332G>A	3.37:g.148759321C>T	ENSP00000308944:p.Val778Ile					HLTF_ENST00000494055.1_Missense_Mutation_p.V778I|HLTF_ENST00000465259.1_Missense_Mutation_p.V777I|HLTF_ENST00000392912.2_Missense_Mutation_p.V778I	p.V778I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		20	2525	-			778					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2332G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830263	0.71258	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.49406	0.1555	N	0.12422	0.21	0.54753	D	0.999983	D;D;D	0.54397	0.966;0.966;0.966	P;P;P	0.59221	0.854;0.695;0.854	T	0.45190	-0.9278	9	0.30854	T	0.27	-17.7845	20.1857	0.98214	0.0:1.0:0.0:0.0	.	778;778;778	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	I	777;778;778;778;246	ENSP00000420745:V777I;ENSP00000308944:V778I;ENSP00000376644:V778I;ENSP00000420429:V778I;ENSP00000420106:V246I	ENSP00000308944:V778I	V	-	1	0	HLTF	150242011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.386000	0.66238	2.868000	0.98415	0.557000	0.71058	GTA		0.378	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			43	45	0	0	0	1	0	43	45				
GDF9	2661	broad.mit.edu	37	5	132197655	132197655	+	Missense_Mutation	SNP	G	G	A	rs368438824		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197655G>A	ENST00000378673.2	-	3	1857	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	GDF9_ENST00000296875.2_Missense_Mutation_p.P331S|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCCCAAGGGCTTCTTCAAT	0.483																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(991-993)Ccc>Tcc		growth differentiation factor 9							62.0	65.0	64.0					5																	132197655		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197655G>A		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.991C>T	5.37:g.132197655G>A	ENSP00000367942:p.Pro331Ser					GDF9_ENST00000296875.2_Missense_Mutation_p.P331S	p.P331S			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1857	-		all_cancers(142;0.105)|Breast(839;0.198)	331					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.991C>T	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172009	0.38315	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.80304	-1.36;-1.36	6.13	5.26	0.73747	Transforming growth factor-beta, C-terminal (1);	0.198500	0.45361	D	0.000375	T	0.77624	0.4158	M	0.77616	2.38	0.32296	N	0.565676	B	0.30870	0.298	B	0.25884	0.064	T	0.79247	-0.1882	10	0.33141	T	0.24	.	9.8528	0.41068	0.0:0.2408:0.5243:0.2349	.	331	O60383	GDF9_HUMAN	S	331	ENSP00000367942:P331S;ENSP00000296875:P331S	ENSP00000296875:P331S	P	-	1	0	GDF9	132225554	0.047000	0.20315	0.971000	0.41717	0.977000	0.68977	0.978000	0.29488	1.608000	0.50180	0.644000	0.83932	CCC		0.483	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		12	73	0	0	0	1	0	12	73				
SPACA3	124912	broad.mit.edu	37	17	31324527	31324527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31324527G>T	ENST00000269053.3	+	4	637	c.567G>T	c.(565-567)caG>caT	p.Q189H	SPACA3_ENST00000394638.1_Missense_Mutation_p.Q86H|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.Q120H	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	189					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGAGCCTCAGGGTCTGGGTT	0.507																																						ENST00000580599.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(358-360)caG>caT		sperm acrosome associated 3							146.0	147.0	147.0					17																	31324527		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31324527G>T	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.567G>T	17.37:g.31324527G>T	ENSP00000269053:p.Gln189His					SPACA3_ENST00000269053.3_Missense_Mutation_p.Q189H|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.Q86H	p.Q120H			Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		5	769	+			189					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.360G>T	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930036	0.34096	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.76316	-1.01;-1.01	4.4	-3.53	0.04667	Lysozyme-like domain (1);	1.844530	0.03249	N	0.181579	T	0.61912	0.2385	L	0.38531	1.155	0.09310	N	1	B	0.27068	0.167	B	0.23018	0.043	T	0.63603	-0.6600	10	0.59425	D	0.04	-5.2161	0.2735	0.00235	0.276:0.1433:0.2889:0.2919	.	189	Q8IXA5	SACA3_HUMAN	H	189;86;190;97	ENSP00000269053:Q189H;ENSP00000378134:Q86H	ENSP00000269053:Q189H	Q	+	3	2	SPACA3	28348640	0.000000	0.05858	0.081000	0.20488	0.439000	0.31926	-0.632000	0.05489	2.446000	0.82766	0.462000	0.41574	CAG		0.507	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		70	87	1	0	7.33394e-39	1	9.88681e-39	70	87				
CTR9	9646	broad.mit.edu	37	11	10777339	10777339	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10777339C>A	ENST00000361367.2	+	4	925	c.499C>A	c.(499-501)Ctt>Att	p.L167I		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	167					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAGCCCTTCTTGGTAAGTG	0.398																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(499-501)Ctt>Att		CTR9, Paf1/RNA polymerase II complex component							104.0	95.0	98.0					11																	10777339		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10777339C>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.499C>A	11.37:g.10777339C>A	ENSP00000355013:p.Leu167Ile						p.L167I	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	4	925	+			167					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.499C>A	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732120	0.69189	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T;T	0.78481	-1.18;1.19	5.97	5.97	0.96955	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83912	0.5357	L	0.60012	1.86	0.80722	D	1	P	0.51537	0.946	P	0.54590	0.756	T	0.81733	-0.0798	10	0.40728	T	0.16	-12.4496	20.4135	0.99023	0.0:1.0:0.0:0.0	.	167	Q6PD62	CTR9_HUMAN	I	167;154	ENSP00000355013:L167I;ENSP00000431458:L154I	ENSP00000355013:L167I	L	+	1	0	CTR9	10733915	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.887000	0.63156	2.835000	0.97688	0.591000	0.81541	CTT		0.398	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		9	96	1	0	0.00829132	1	0.00869385	9	96				
VPS11	55823	broad.mit.edu	37	11	118944660	118944660	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118944660C>T	ENST00000300793.6	+	8	1276	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	413					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCAATATATCCGGTCAGTCTG	0.527																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.e8+1		vacuolar protein sorting 11 homolog (S. cerevisiae)							62.0	57.0	58.0					11																	118944660		1931	4135	6066	SO:0001630	splice_region_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118944660C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1235+1C>T	11.37:g.118944660C>T						VPS11_ENST00000527798.1_3'UTR	p.R412_splice	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	8	1276	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	413					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Splice_Site	SNP	ENST00000300793.6	37	c.1235_splice																																																																																					0.527	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729	Nonsense_Mutation	9	11	0	0	0	1	0	9	11				
CEP290	80184	broad.mit.edu	37	12	88514803	88514803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514803C>T	ENST00000552810.1	-	14	1673	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CEP290_ENST00000309041.7_Missense_Mutation_p.A444T|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	444					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCTTCAGAGCCTCAACTAAT	0.368																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1330-1332)Gct>Act		centrosomal protein 290kDa							113.0	107.0	109.0					12																	88514803		1847	4084	5931	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514803C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1330G>A	12.37:g.88514803C>T	ENSP00000448012:p.Ala444Thr					CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.A444T	p.A444T	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			14	1673	-			444					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1330G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313264	0.23908	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.68903	-0.35;-0.36	5.61	0.0737	0.14392	.	0.265027	0.37261	N	0.002171	T	0.46112	0.1376	L	0.28740	0.885	0.80722	D	1	B;B	0.15141	0.0;0.012	B;B	0.14023	0.001;0.01	T	0.11690	-1.0577	10	0.17832	T	0.49	.	7.1261	0.25473	0.1102:0.416:0.0:0.4738	.	444;444	Q05BJ6;O15078	.;CE290_HUMAN	T	444;444;444;346	ENSP00000448012:A444T;ENSP00000308021:A444T	ENSP00000308021:A444T	A	-	1	0	CEP290	87038934	0.056000	0.20664	0.991000	0.47740	0.904000	0.53231	-0.157000	0.10085	-0.274000	0.09232	-1.094000	0.02160	GCT		0.368	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		4	32	0	0	0	1	0	4	32				
PTCHD1	139411	broad.mit.edu	37	X	23353126	23353126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23353126G>A	ENST00000379361.4	+	1	994	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	45					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTCAGCCGCTACCAGGTC	0.647																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(133-135)cGc>cAc		patched domain containing 1							30.0	35.0	33.0					X																	23353126		2190	4270	6460	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23353126G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.134G>A	X.37:g.23353126G>A	ENSP00000368666:p.Arg45His						p.R45H	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			1	994	+			45					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.134G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	g	20.8	4.051626	0.75960	.	.	ENSG00000165186	ENST00000379361	D	0.89485	-2.52	4.46	4.46	0.54185	.	0.068974	0.52532	D	0.000065	D	0.83519	0.5272	L	0.36672	1.1	0.48288	D	0.999626	P	0.47677	0.899	B	0.41860	0.368	T	0.81618	-0.0851	10	0.15499	T	0.54	-19.228	16.0255	0.80541	0.0:0.0:1.0:0.0	.	45	Q96NR3	PTHD1_HUMAN	H	45	ENSP00000368666:R45H	ENSP00000368666:R45H	R	+	2	0	PTCHD1	23263047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.037000	0.76531	2.052000	0.61016	0.502000	0.49764	CGC		0.647	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		16	25	0	0	0	1	0	16	25				
LRRN1	57633	broad.mit.edu	37	3	3888446	3888446	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888446C>T	ENST00000319331.3	+	2	2882	c.2121C>T	c.(2119-2121)gtC>gtT	p.V707V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	707						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAACCCAGGTCGACACATCCA	0.448																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(2119-2121)gtC>gtT		leucine rich repeat neuronal 1							57.0	59.0	59.0					3																	3888446		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3888446C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2121C>T	3.37:g.3888446C>T						SUMF1_ENST00000534863.1_Intron	p.V707V	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2882	+			707					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.2121C>T	CCDS33685.1																																																																																				0.448	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		13	15	0	0	0	1	0	13	15				
ZNF559	84527	broad.mit.edu	37	19	9452651	9452651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9452651G>A	ENST00000393883.2	+	6	1172	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.C95Y|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.C239Y|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.C175Y|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CATCTTGTTTGCAAGAAAACT	0.388																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(523-525)tGc>tAc		zinc finger protein 559							117.0	113.0	114.0					19																	9452651		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452651G>A	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.524G>A	19.37:g.9452651G>A	ENSP00000377461:p.Cys175Tyr					ZNF559_ENST00000587557.1_Missense_Mutation_p.C239Y|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.C175Y|ZNF559_ENST00000538743.1_Missense_Mutation_p.C95Y|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron	p.C175Y	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1172	+			175					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.524G>A	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597176	0.28445	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.06687	3.27;3.32	2.09	0.894	0.19242	.	.	.	.	.	T	0.05044	0.0135	N	0.17082	0.46	0.28306	N	0.922911	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.0;0.001;0.003	T	0.32851	-0.9891	9	0.87932	D	0	.	4.7817	0.13206	0.7761:0.0:0.2239:0.0	.	175;175;95	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Y	175;95;175	ENSP00000442832:C95Y;ENSP00000377461:C175Y	ENSP00000325393:C175Y	C	+	2	0	ZNF559	9313651	0.822000	0.29219	0.003000	0.11579	0.708000	0.40852	0.000000	0.12993	0.189000	0.20188	0.455000	0.32223	TGC		0.388	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		6	156	0	0	0	1	0	6	156				
CTIF	9811	broad.mit.edu	37	18	46284702	46284702	+	Missense_Mutation	SNP	C	C	T	rs150546807		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46284702C>T	ENST00000256413.3	+	8	1292	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	CTIF_ENST00000382998.4_Missense_Mutation_p.R333C	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	333					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TCTTCCCGAGCGCATCGGGGA	0.557																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(997-999)Cgc>Tgc		CBP80/20-dependent translation initiation factor							131.0	155.0	147.0					18																	46284702		2201	4298	6499	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284702C>T	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.997C>T	18.37:g.46284702C>T	ENSP00000256413:p.Arg333Cys					CTIF_ENST00000382998.4_Missense_Mutation_p.R333C	p.R333C	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1292	+			333					B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.997C>T	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992823	0.74703	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.51817	0.69;0.71	5.51	5.51	0.81932	.	0.291185	0.33895	N	0.004448	T	0.60663	0.2286	L	0.47716	1.5	0.50813	D	0.999894	D;D	0.89917	1.0;1.0	P;P	0.60682	0.878;0.759	T	0.62882	-0.6760	10	0.87932	D	0	-26.113	17.5978	0.88016	0.0:1.0:0.0:0.0	.	333;333	O43310-2;O43310	.;CTIF_HUMAN	C	333;333;285	ENSP00000256413:R333C;ENSP00000372459:R333C	ENSP00000256413:R333C	R	+	1	0	CTIF	44538700	1.000000	0.71417	0.972000	0.41901	0.869000	0.49853	2.981000	0.49329	2.584000	0.87258	0.561000	0.74099	CGC		0.557	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		26	217	0	0	0	1	0	26	217				
COASY	80347	broad.mit.edu	37	17	40714858	40714858	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40714858C>A	ENST00000393818.2	+	1	674	c.218C>A	c.(217-219)gCt>gAt	p.A73D	RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.A73D|COASY_ENST00000590958.1_Missense_Mutation_p.A102D|COASY_ENST00000420359.1_Missense_Mutation_p.A73D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	73					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CACCTCTATGCTGGCGCCGAC	0.607																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(217-219)gCt>gAt		CoA synthase							70.0	77.0	75.0					17																	40714858		2203	4300	6503	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714858C>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.218C>A	17.37:g.40714858C>A	ENSP00000377406:p.Ala73Asp					COASY_ENST00000420359.1_Missense_Mutation_p.A73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000590958.1_Missense_Mutation_p.A102D|COASY_ENST00000421097.2_Missense_Mutation_p.A73D	p.A73D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	1	674	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	73					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.218C>A	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077591	0.20227	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818	T;T	0.30714	1.52;1.52	5.59	3.55	0.40652	.	0.492323	0.23375	N	0.048870	T	0.17704	0.0425	N	0.14661	0.345	0.36463	D	0.866808	P;B	0.35272	0.493;0.004	B;B	0.27380	0.079;0.009	T	0.11567	-1.0582	10	0.48119	T	0.1	0.4984	14.315	0.66443	0.0:0.7178:0.2822:0.0	.	102;73	Q13057-2;Q13057	.;COASY_HUMAN	D	102;73;73	ENSP00000413338:A73D;ENSP00000377406:A73D	ENSP00000377406:A73D	A	+	2	0	COASY	37968384	0.176000	0.23096	0.001000	0.08648	0.078000	0.17371	1.557000	0.36299	0.682000	0.31407	0.561000	0.74099	GCT		0.607	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		46	75	1	0	8.20599e-20	1	1.07503e-19	46	75				
CUL2	8453	broad.mit.edu	37	10	35324208	35324208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35324208G>A	ENST00000374748.1	-	11	1207	c.894C>T	c.(892-894)taC>taT	p.Y298Y	CUL2_ENST00000374746.1_Silent_p.Y298Y|CUL2_ENST00000374751.3_Silent_p.Y298Y|CUL2_ENST00000602371.1_Silent_p.Y241Y|CUL2_ENST00000374742.1_Silent_p.Y298Y|CUL2_ENST00000374749.3_Silent_p.Y298Y|CUL2_ENST00000537177.1_Silent_p.Y317Y			Q13617	CUL2_HUMAN	cullin 2	298					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GGAGTAAGACGTACATATTTG	0.428																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(892-894)taC>taT		cullin 2							151.0	126.0	134.0					10																	35324208		2203	4300	6503	SO:0001819	synonymous_variant	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35324208G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.894C>T	10.37:g.35324208G>A						CUL2_ENST00000374749.3_Silent_p.Y298Y|CUL2_ENST00000602371.1_Silent_p.Y241Y|CUL2_ENST00000537177.1_Silent_p.Y317Y|CUL2_ENST00000374746.1_Silent_p.Y298Y|CUL2_ENST00000374742.1_Silent_p.Y298Y|CUL2_ENST00000374751.3_Silent_p.Y298Y	p.Y298Y			Q13617	CUL2_HUMAN			11	1207	-			298					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	ENST00000374748.1	37	c.894C>T	CCDS7179.1																																																																																				0.428	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		6	59	0	0	0	1	0	6	59				
UTRN	7402	broad.mit.edu	37	6	144878296	144878296	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144878296C>A	ENST00000367545.3	+	49	7138	c.7138C>A	c.(7138-7140)Ctg>Atg	p.L2380M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2380					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCTCAGATACTGCTTCAAGA	0.443																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7138-7140)Ctg>Atg		utrophin							108.0	101.0	103.0					6																	144878296		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144878296C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7138C>A	6.37:g.144878296C>A	ENSP00000356515:p.Leu2380Met						p.L2380M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	49	7138	+		Ovarian(120;0.218)	2380					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7138C>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417428	0.83449	.	.	ENSG00000152818	ENST00000367545	T	0.46063	0.88	5.92	-7.06	0.01568	.	0.000000	0.39274	N	0.001407	T	0.45074	0.1324	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.66320	-0.5953	10	0.66056	D	0.02	.	19.2569	0.93949	0.0:0.6489:0.0:0.3511	.	2380	P46939	UTRO_HUMAN	M	2380	ENSP00000356515:L2380M	ENSP00000356515:L2380M	L	+	1	2	UTRN	144919989	0.000000	0.05858	0.003000	0.11579	0.944000	0.59088	-0.733000	0.04898	-1.229000	0.02564	-0.312000	0.09012	CTG		0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			6	40	1	0	0.000274275	1	0.000298791	6	40				
PALLD	23022	broad.mit.edu	37	4	169432880	169432880	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169432880C>A	ENST00000505667.1	+	2	398	c.225C>A	c.(223-225)ctC>ctA	p.L75L	PALLD_ENST00000261509.6_Silent_p.L75L|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	75					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGCAAGCCTCTGTGAACATC	0.517									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(223-225)ctC>ctA		palladin, cytoskeletal associated protein							41.0	43.0	42.0					4																	169432880		2203	4300	6503	SO:0001819	synonymous_variant	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169432880C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.225C>A	4.37:g.169432880C>A						PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000505667.1_Silent_p.L75L	p.L75L	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	436	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	75					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	c.225C>A	CCDS54818.1																																																																																				0.517	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		5	38	1	0	0.000602214	1	0.000649039	5	38				
ATP10B	23120	broad.mit.edu	37	5	160033805	160033805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160033805G>A	ENST00000327245.5	-	19	3973	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1043					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTGTCTCGCACCAGCTTG	0.522																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(3127-3129)Cga>Tga		ATPase, class V, type 10B							94.0	96.0	95.0					5																	160033805		2103	4245	6348	SO:0001587	stop_gained	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033805G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3127C>T	5.37:g.160033805G>A	ENSP00000313600:p.Arg1043*						p.R1043*	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3973	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1043					Q9H725	Nonsense_Mutation	SNP	ENST00000327245.5	37	c.3127C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	49	15.693278	0.99842	.	.	ENSG00000118322	ENST00000327245	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2717	0.87104	0.0:0.0:1.0:0.0	.	.	.	.	X	1043	.	.	R	-	1	2	ATP10B	159966383	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.680000	0.54641	2.309000	0.77851	0.563000	0.77884	CGA		0.522	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	47	0	0	0	1	0	5	47				
HOXC5	3222	broad.mit.edu	37	12	54427291	54427291	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54427291G>A	ENST00000312492.2	+	1	655	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	129					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGGGCAGCCCGCCGGACTGAG	0.622																																						ENST00000312492.2																			0				cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(385-387)Gcc>Acc		homeobox C5							15.0	12.0	13.0					12																	54427291		2126	4208	6334	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54427291G>A		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.385G>A	12.37:g.54427291G>A	ENSP00000309336:p.Ala129Thr					HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	p.A129T	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN			1	655	+			129						Missense_Mutation	SNP	ENST00000312492.2	37	c.385G>A	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205420	0.22205	.	.	ENSG00000172789	ENST00000312492	D	0.90563	-2.69	4.51	4.51	0.55191	Homeodomain-like (1);	0.000000	0.45606	D	0.000345	T	0.77046	0.4073	N	0.08118	0	0.80722	D	1	B	0.25169	0.119	B	0.17979	0.02	T	0.72337	-0.4324	10	0.10377	T	0.69	.	10.7567	0.46241	0.0923:0.0:0.9077:0.0	.	129	Q00444	HXC5_HUMAN	T	129	ENSP00000309336:A129T	ENSP00000309336:A129T	A	+	1	0	HOXC5	52713558	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.833000	0.39161	2.503000	0.84419	0.609000	0.83330	GCC		0.622	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1			5	6	0	0	0	1	0	5	6				
DLG4	1742	broad.mit.edu	37	17	7094074	7094074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7094074C>T	ENST00000399506.2	-	20	2319	c.2128G>A	c.(2128-2130)Gac>Aac	p.D710N	DLG4_ENST00000399510.2_Missense_Mutation_p.D753N|DLG4_ENST00000302955.6_Missense_Mutation_p.D707N			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	710					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CCTGAGAGGTCCTCGATGACA	0.622																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(2257-2259)Gac>Aac		discs, large homolog 4 (Drosophila)							94.0	97.0	96.0					17																	7094074		2068	4211	6279	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7094074C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.2128G>A	17.37:g.7094074C>T	ENSP00000382425:p.Asp710Asn					DLG4_ENST00000399506.2_Missense_Mutation_p.D710N|DLG4_ENST00000302955.6_Missense_Mutation_p.D707N	p.D753N	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			22	3109	-			710					B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.2257G>A		.	.	.	.	.	.	.	.	.	.	C	19.94	3.920093	0.73098	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912	T;T;T	0.42513	0.97;0.97;0.97	4.06	4.06	0.47325	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	.	.	.	.	T	0.42698	0.1214	L	0.56769	1.78	0.45452	D	0.998429	B;B;B;B	0.32862	0.084;0.005;0.387;0.313	B;B;B;B	0.35655	0.08;0.022;0.146;0.207	T	0.48293	-0.9048	9	0.54805	T	0.06	.	13.8004	0.63196	0.0:1.0:0.0:0.0	.	750;710;707;753	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	N	710;707;753;753;650	ENSP00000382425:D710N;ENSP00000307471:D707N;ENSP00000382428:D753N	ENSP00000293813:D753N	D	-	1	0	DLG4	7034798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.246000	0.78247	2.101000	0.63845	0.462000	0.41574	GAC		0.622	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		10	60	0	0	0	1	0	10	60				
ZNF567	163081	broad.mit.edu	37	19	37211222	37211222	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37211222C>A	ENST00000536254.2	+	6	1818	c.1596C>A	c.(1594-1596)ccC>ccA	p.P532P	ZNF567_ENST00000588311.1_Silent_p.P501P|ZNF567_ENST00000585696.1_Silent_p.P501P|ZNF567_ENST00000392163.2_Silent_p.P501P|ZNF567_ENST00000360729.4_Silent_p.P501P|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAACCCTATGTTTGTA	0.393																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1501-1503)ccC>ccA		zinc finger protein 567							52.0	53.0	53.0					19																	37211222		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211222C>A	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1596C>A	19.37:g.37211222C>A						ZNF567_ENST00000588311.1_Silent_p.P501P|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.P532P|ZNF567_ENST00000360729.4_Silent_p.P501P|ZNF567_ENST00000392163.2_Silent_p.P501P	p.P501P			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2733	+	Esophageal squamous(110;0.198)		532					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1503C>A																																																																																					0.393	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		7	68	1	0	0.000157383	1	0.00017284	7	68				
KLHL7	55975	broad.mit.edu	37	7	23205476	23205476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23205476C>T	ENST00000339077.5	+	8	1339	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	KLHL7_ENST00000542558.1_Silent_p.L141L|KLHL7_ENST00000539124.1_Silent_p.L290L|KLHL7_ENST00000322231.7_Silent_p.L344L|KLHL7_ENST00000545443.1_Silent_p.L344L|KLHL7_ENST00000409689.1_Silent_p.L318L	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	366					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTCGAAACTGGGTCCTCC	0.438																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1030-1032)Ctg>Ttg		kelch-like family member 7							97.0	100.0	99.0					7																	23205476		2203	4300	6503	SO:0001819	synonymous_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23205476C>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1096C>T	7.37:g.23205476C>T						KLHL7_ENST00000542558.1_Silent_p.L141L|KLHL7_ENST00000539124.1_Silent_p.L290L|KLHL7_ENST00000409689.1_Silent_p.L318L|KLHL7_ENST00000545443.1_Silent_p.L344L|KLHL7_ENST00000339077.4_Silent_p.L366L	p.L344L			Q8IXQ5	KLHL7_HUMAN			9	1520	+			366					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	c.1030C>T	CCDS34609.1																																																																																				0.438	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		16	59	0	0	0	1	0	16	59				
PCIF1	63935	broad.mit.edu	37	20	44576322	44576322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576322G>A	ENST00000372409.3	+	17	2407	c.2043G>A	c.(2041-2043)tcG>tcA	p.S681S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	681	Poly-Ser.				negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTTCCTCATCGTCCTCCTCGG	0.667																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(2041-2043)tcG>tcA		PDX1 C-terminal inhibiting factor 1							31.0	34.0	33.0					20																	44576322		2202	4298	6500	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44576322G>A	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.2043G>A	20.37:g.44576322G>A						PCIF1_ENST00000479348.1_3'UTR	p.S681S	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			17	2407	+			681			Poly-Ser.		E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.2043G>A	CCDS13388.1																																																																																				0.667	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		17	11	0	0	0	1	0	17	11				
TAB3	257397	broad.mit.edu	37	X	30864137	30864137	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30864137C>A	ENST00000378933.1	-	5	1982				TAB3_ENST00000378932.2_Intron|TAB3_ENST00000378928.1_Missense_Mutation_p.R70I|TAB3_ENST00000378930.3_Intron|TAB3_ENST00000288422.2_Intron	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						catctctaatctggtgagttg	0.358																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378928.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(208-210)aGa>aTa		TGF-beta activated kinase 1/MAP3K7 binding protein 3							19.0	19.0	19.0					X																	30864137		875	1990	2865	SO:0001627	intron_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30864137C>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1804+530G>T	X.37:g.30864137C>A						TAB3_ENST00000288422.2_Intron|TAB3_ENST00000378933.1_Intron|TAB3_ENST00000378932.2_Intron|TAB3_ENST00000378930.3_Intron	p.R70I			Q8N5C8	TAB3_HUMAN			3	255	-			0					A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.209G>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	4.763	0.141807	0.09083	.	.	ENSG00000157625	ENST00000378928	.	.	.	3.91	-5.32	0.02722	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40327	-0.9569	5	0.87932	D	0	.	3.1501	0.06485	0.1281:0.1928:0.1254:0.5537	.	.	.	.	I	70	.	ENSP00000368210:R70I	R	-	2	0	TAB3	30774058	0.007000	0.16637	0.000000	0.03702	0.015000	0.08874	-0.172000	0.09868	-1.777000	0.01283	-0.306000	0.09157	AGA		0.358	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	10	1	0	0.361761	1	0.363227	8	10				
SEMA6C	10500	broad.mit.edu	37	1	151108924	151108924	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151108924C>A	ENST00000341697.3	-	12	2797	c.1106G>T	c.(1105-1107)aGg>aTg	p.R369M				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	369	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGGTACCTGGGTGAGGG	0.562																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.e12+1		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							138.0	150.0	146.0					1																	151108924		2203	4300	6503	SO:0001630	splice_region_variant	10500					integral to membrane	receptor activity	g.chr1:151108924C>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1106+1G>T	1.37:g.151108924C>A							p.R369_splice			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	2797	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		369			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Splice_Site	SNP	ENST00000341697.3	37	c.1106_splice	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532226	0.85812	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.51	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	H	0.96691	3.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.996;0.992;0.998;0.997	T	0.67573	-0.5636	9	.	.	.	.	14.7487	0.69508	0.0:1.0:0.0:0.0	.	369;329;369;369	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	M	369;329;369;369;369	ENSP00000357910:R369M;ENSP00000357908:R329M;ENSP00000357909:R369M;ENSP00000344148:R369M	.	R	-	2	0	SEMA6C	149375548	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.554000	0.82212	2.338000	0.79540	0.491000	0.48974	AGG		0.562	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913	Missense_Mutation	12	268	1	0	9.05144e-12	1	1.1316e-11	12	268				
TJAP1	93643	broad.mit.edu	37	6	43472904	43472904	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43472904C>T	ENST00000372445.5	+	11	1361	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	TJAP1_ENST00000259751.1_Missense_Mutation_p.R319C|TJAP1_ENST00000436109.2_Missense_Mutation_p.R319C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R319C|TJAP1_ENST00000372449.1_Missense_Mutation_p.R329C|TJAP1_ENST00000438588.2_Missense_Mutation_p.R329C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372444.2_Missense_Mutation_p.R319C	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	329					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTATCCTGGCCGCAGGGTAAT	0.617																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(955-957)Cgc>Tgc		tight junction associated protein 1 (peripheral)							75.0	83.0	81.0					6																	43472904		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472904C>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.985C>T	6.37:g.43472904C>T	ENSP00000361522:p.Arg329Cys					TJAP1_ENST00000436109.2_Missense_Mutation_p.R319C|TJAP1_ENST00000438588.2_Missense_Mutation_p.R329C|TJAP1_ENST00000259751.1_Missense_Mutation_p.R319C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.R329C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R319C|TJAP1_ENST00000372445.5_Missense_Mutation_p.R329C	p.R319C	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1388	+	all_lung(25;0.00536)		329			Pro-rich.		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.955C>T	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510844	0.85389	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.81	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77024	-0.2741	9	0.72032	D	0.01	-8.4718	15.8333	0.78778	0.1408:0.8592:0.0:0.0	.	329;319	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	C	319;329;319;319;319;319;329;329	.	ENSP00000259751:R319C	R	+	1	0	TJAP1	43580882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.567000	0.67378	1.389000	0.46526	0.655000	0.94253	CGC		0.617	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		21	30	0	0	0	1	0	21	30				
MOXD1	26002	broad.mit.edu	37	6	132695805	132695805	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132695805G>T	ENST00000367963.3	-	2	494	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	MOXD1_ENST00000336749.3_Missense_Mutation_p.L58M	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	126	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATGTATGCAGCTCTCTGGTA	0.343																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(376-378)Ctg>Atg		monooxygenase, DBH-like 1							225.0	212.0	217.0					6																	132695805		2202	4298	6500	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132695805G>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.376C>A	6.37:g.132695805G>T	ENSP00000356940:p.Leu126Met					MOXD1_ENST00000336749.3_Missense_Mutation_p.L58M	p.L126M	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	2	494	-	Breast(56;0.0495)		126			DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.376C>A	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811210	0.70797	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	D;D	0.82893	-1.66;-1.66	5.62	4.73	0.59995	DOMON domain (3);	0.000000	0.64402	D	0.000003	D	0.90417	0.7000	M	0.90425	3.115	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72075	0.976;0.948	D	0.92329	0.5872	10	0.72032	D	0.01	-20.0483	13.5763	0.61877	0.0774:0.0:0.9226:0.0	.	126;58	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	M	126;58	ENSP00000356940:L126M;ENSP00000336998:L58M	ENSP00000336998:L58M	L	-	1	2	MOXD1	132737498	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	3.106000	0.50322	1.327000	0.45338	0.655000	0.94253	CTG		0.343	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		25	68	1	0	2.14196e-07	1	2.52089e-07	25	68				
P4HTM	54681	broad.mit.edu	37	3	49043537	49043537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49043537G>A	ENST00000383729.4	+	8	1576	c.1205G>A	c.(1204-1206)aGg>aAg	p.R402K	WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.R463K|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000415265.2_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	402	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GACACACGGAGGCACTGTGAC	0.597																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1387-1389)aGg>aAg		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						100.0	90.0	93.0					3																	49043537		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49043537G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1205G>A	3.37:g.49043537G>A	ENSP00000373235:p.Arg402Lys					P4HTM_ENST00000383729.4_Missense_Mutation_p.R402K	p.R463K	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			8	1756	+			402					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1388G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403832	0.25291	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.58506	0.33	5.71	4.73	0.59995	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.144593	0.64402	D	0.000007	T	0.26195	0.0639	N	0.05078	-0.115	0.27117	N	0.962235	B;B	0.10296	0.003;0.003	B;B	0.17433	0.018;0.008	T	0.38200	-0.9672	10	0.05525	T	0.97	-25.4369	3.7446	0.08542	0.3355:0.0:0.6644:0.0	.	463;402	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	K	402;463	ENSP00000373235:R402K	ENSP00000341422:R463K	R	+	2	0	P4HTM	49018541	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.191000	0.32138	2.698000	0.92095	0.561000	0.74099	AGG		0.597	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		42	65	0	0	0	1	0	42	65				
NYAP2	57624	broad.mit.edu	37	2	226516267	226516267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:226516267G>A	ENST00000272907.6	+	6	2361	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	650					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ATCATCGTTAGCCAATCGTGA	0.498																																						ENST00000272907.6																			0											c.(1948-1950)Gcc>Acc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							244.0	246.0	245.0					2																	226516267		2110	4233	6343	SO:0001583	missense	57624							g.chr2:226516267G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1948G>A	2.37:g.226516267G>A	ENSP00000272907:p.Ala650Thr						p.A650T	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			6	2361	+			650					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1948G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103125	0.56183	.	.	ENSG00000144460	ENST00000272907	T	0.32988	1.43	5.72	4.84	0.62591	.	110.987000	0.00166	N	0.000000	T	0.32734	0.0839	N	0.14661	0.345	0.80722	D	1	B	0.25809	0.135	B	0.35931	0.214	T	0.02307	-1.1179	10	0.59425	D	0.04	-4.321	15.2348	0.73419	0.0:0.2655:0.7345:0.0	.	650	Q9P242	K1486_HUMAN	T	650	ENSP00000272907:A650T	ENSP00000272907:A650T	A	+	1	0	KIAA1486	226224511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.117000	0.41939	1.415000	0.47037	0.557000	0.71058	GCC		0.498	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		88	131	0	0	0	1	0	88	131				
ADH7	131	broad.mit.edu	37	4	100349736	100349736	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100349736T>C	ENST00000209665.4	-	3	448	c.208A>G	c.(208-210)Atg>Gtg	p.M70V	ADH7_ENST00000482593.1_Start_Codon_SNP_p.M1V|ADH7_ENST00000476959.1_Missense_Mutation_p.M78V|ADH7_ENST00000437033.2_Missense_Mutation_p.M58V	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	70					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TTGGACACCATTGTTCCTTTT	0.433																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(172-174)Atg>Gtg		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						252.0	205.0	221.0					4																	100349736		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349736T>C	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.208A>G	4.37:g.100349736T>C	ENSP00000209665:p.Met70Val					ADH7_ENST00000476959.1_Missense_Mutation_p.M78V|ADH7_ENST00000209665.4_Missense_Mutation_p.M70V|ADH7_ENST00000482593.1_Start_Codon_SNP_p.M1V	p.M58V			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	3	675	-			70					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.172A>G	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711340	0.48517	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.08896	4.05;4.05;4.29;4.05;3.04	4.13	-4.29	0.03721	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.464790	0.23764	N	0.044796	T	0.03348	0.0097	N	0.13198	0.31	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27938	-1.0059	10	0.87932	D	0	-31.0924	2.8828	0.05653	0.29:0.0774:0.4209:0.2118	.	70	P40394	ADH7_HUMAN	V	58;70;1;78;1	ENSP00000414254:M58V;ENSP00000209665:M70V;ENSP00000420613:M1V;ENSP00000420269:M78V;ENSP00000420300:M1V	ENSP00000209665:M70V	M	-	1	0	ADH7	100568759	0.000000	0.05858	0.000000	0.03702	0.993000	0.82548	-0.693000	0.05121	-0.464000	0.06963	0.533000	0.62120	ATG		0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		16	148	0	0	0	1	0	16	148				
ZFHX4	79776	broad.mit.edu	37	8	77763428	77763428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77763428C>T	ENST00000521891.2	+	10	4719	c.4271C>T	c.(4270-4272)gCg>gTg	p.A1424V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1379V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1398V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1379V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCGGGCTGCGACAATGTGT	0.458										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4270-4272)gCg>gTg		zinc finger homeobox 4							52.0	49.0	50.0					8																	77763428		1929	4134	6063	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763428C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4271C>T	8.37:g.77763428C>T	ENSP00000430497:p.Ala1424Val	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1398V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1379V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1379V	p.A1424V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4719	+			1379					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4271C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415393	0.62511	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.94	4.94	0.65067	.	0.000000	0.44097	U	0.000483	T	0.60907	0.2305	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	T	0.66744	-0.5846	10	0.72032	D	0.01	.	18.4109	0.90550	0.0:1.0:0.0:0.0	.	1379;1379;1424	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	1424;1424;1379;1379;1398	ENSP00000430497:A1424V;ENSP00000399605:A1379V;ENSP00000050961:A1379V;ENSP00000430848:A1398V	ENSP00000050961:A1379V	A	+	2	0	ZFHX4	77925983	1.000000	0.71417	0.138000	0.22173	0.991000	0.79684	7.651000	0.83577	2.589000	0.87451	0.549000	0.68633	GCG		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	16	0	0	0	1	0	9	16				
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCTGAGGATGCGGCCAATTCG	0.522																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4744-4746)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						92.0	90.0	91.0					3																	38739966		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739966C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4745G>A	3.37:g.38739966C>T	ENSP00000390600:p.Arg1582His						p.R1582H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4744	-			1582					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4745G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806931	0.90623	.	.	ENSG00000185313	ENST00000449082	D	0.99591	-6.24	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.97217	0.9875	10	0.87932	D	0	.	19.406	0.94647	0.0:1.0:0.0:0.0	.	1582	Q9Y5Y9	SCNAA_HUMAN	H	1582	ENSP00000390600:R1582H	ENSP00000390600:R1582H	R	-	2	0	SCN10A	38714970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.822000	0.97130	0.655000	0.94253	CGC		0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		41	56	0	0	0	1	0	41	56				
HSPA12A	259217	broad.mit.edu	37	10	118434331	118434331	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	663						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1987-1989)tcG>tcA		heat shock 70kDa protein 12A							58.0	64.0	62.0					10																	118434331		1959	4139	6098	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118434331C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1989G>A	10.37:g.118434331C>T							p.S663S	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	2093	-			663						Silent	SNP	ENST00000369209.3	37	c.1989G>A	CCDS41569.1																																																																																				0.557	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		18	44	0	0	0	1	0	18	44				
MCM9	254394	broad.mit.edu	37	6	119232882	119232882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119232882G>A	ENST00000316316.6	-	7	1369	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	MCM9_ENST00000316068.3_Silent_p.F361F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	361	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CATATTTGAGGAACTGAGATT	0.373																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1081-1083)ttC>ttT		minichromosome maintenance complex component 9							100.0	88.0	92.0					6																	119232882		2203	4300	6503	SO:0001819	synonymous_variant	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119232882G>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1083C>T	6.37:g.119232882G>A						MCM9_ENST00000316068.3_Silent_p.F361F	p.F361F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	7	1369	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	361			MCM.		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Silent	SNP	ENST00000316316.6	37	c.1083C>T	CCDS56447.1																																																																																				0.373	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		25	42	0	0	0	1	0	25	42				
ZNF544	27300	broad.mit.edu	37	19	58773135	58773135	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773135C>A	ENST00000596652.1	+	6	1397	c.1163C>A	c.(1162-1164)tCt>tAt	p.S388Y	ZNF544_ENST00000415203.2_Missense_Mutation_p.S360Y|ZNF544_ENST00000600044.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000269829.4_Missense_Mutation_p.S388Y|ZNF544_ENST00000599953.1_Missense_Mutation_p.S246Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGTGGGAAATCTTTTAGCCAG	0.463																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1162-1164)tCt>tAt		zinc finger protein 544							89.0	86.0	87.0					19																	58773135		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773135C>A	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1163C>A	19.37:g.58773135C>A	ENSP00000469635:p.Ser388Tyr					ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.S360Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.S388Y|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.S246Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000415203.2_Missense_Mutation_p.S360Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR	p.S388Y	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1637	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	388					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1163C>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900139	0.52227	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.18810	2.19;5.23	2.9	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36663	0.0975	M	0.79258	2.445	0.09310	N	0.999999	D;D;D	0.69078	0.997;0.971;0.971	P;P;P	0.60345	0.873;0.583;0.742	T	0.16928	-1.0386	9	0.87932	D	0	.	3.7486	0.08558	0.0:0.5888:0.2615:0.1498	.	360;360;388	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	Y	388;360;52	ENSP00000269829:S388Y;ENSP00000394341:S360Y	ENSP00000269829:S388Y	S	+	2	0	ZNF544	63464947	0.000000	0.05858	0.045000	0.18777	0.448000	0.32197	-0.241000	0.08940	1.648000	0.50643	0.491000	0.48974	TCT		0.463	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		15	48	1	0	6.31663e-08	1	7.49729e-08	15	48				
CRISPLD1	83690	broad.mit.edu	37	8	75929589	75929589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75929589G>T	ENST00000262207.4	+	10	1499	c.1031G>T	c.(1030-1032)gGt>gTt	p.G344V	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158V|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156V	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	344	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTCATTATGGTATAATAGAC	0.343																																						ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1030-1032)gGt>gTt		cysteine-rich secretory protein LCCL domain containing 1							114.0	122.0	119.0					8																	75929589		2203	4297	6500	SO:0001583	missense	83690					extracellular region		g.chr8:75929589G>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1031G>T	8.37:g.75929589G>T	ENSP00000262207:p.Gly344Val					CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156V|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158V	p.G344V	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		10	1499	+	Breast(64;0.0799)		344			LCCL 1.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1031G>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525143	0.85600	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.98400	-4.91;-4.91;-4.91	5.42	5.42	0.78866	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98427	1.0580	10	0.87932	D	0	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	158;344	B7Z929;Q9H336	.;CRLD1_HUMAN	V	344;156;158	ENSP00000262207:G344V;ENSP00000430105:G156V;ENSP00000429746:G158V	ENSP00000262207:G344V	G	+	2	0	CRISPLD1	76092144	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	9.201000	0.95017	2.821000	0.97095	0.650000	0.86243	GGT		0.343	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		43	76	1	0	1.02591e-13	1	1.30327e-13	43	76				
ZNF692	55657	broad.mit.edu	37	1	249151477	249151477	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249151477C>T	ENST00000306601.4	-	4	597	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	ZNF692_ENST00000451251.1_Missense_Mutation_p.R149Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.R144Q|ZNF692_ENST00000366471.3_Missense_Mutation_p.R144Q|ZNF692_ENST00000468455.1_5'UTR|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Missense_Mutation_p.R144Q	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAACTTCTCCGAGTAGTATG	0.547																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(445-447)cGg>cAg		zinc finger protein 692							91.0	93.0	92.0					1																	249151477		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151477C>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.431G>A	1.37:g.249151477C>T	ENSP00000305483:p.Arg144Gln					ZNF692_ENST00000366471.3_Missense_Mutation_p.R144Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.R144Q|ZNF692_ENST00000306601.4_Missense_Mutation_p.R144Q|ZNF692_ENST00000427146.1_Missense_Mutation_p.R144Q|ZNF692_ENST00000468455.1_5'UTR	p.R149Q	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	791	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	144					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.446G>A	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	7.614	0.675437	0.14841	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.06608	3.3;3.3;3.3;3.29;3.28	4.12	-8.1	0.01086	.	2.038600	0.02199	N	0.062121	T	0.04363	0.0120	L	0.36672	1.1	0.09310	N	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36237	-0.9756	10	0.14252	T	0.57	0.0011	4.5257	0.11980	0.1096:0.1666:0.1088:0.615	.	149;144;144	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	Q	144;144;144;144;149	ENSP00000305483:R144Q;ENSP00000390044:R144Q;ENSP00000355427:R144Q;ENSP00000355425:R144Q;ENSP00000391200:R149Q	ENSP00000305483:R144Q	R	-	2	0	ZNF692	247118100	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.029000	0.01430	-1.989000	0.00979	-0.810000	0.03169	CGG		0.547	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		45	58	0	0	0	1	0	45	58				
PITPNM1	9600	broad.mit.edu	37	11	67267735	67267735	+	Silent	SNP	G	G	A	rs571718236		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267735G>A	ENST00000534749.1	-	5	986	c.798C>T	c.(796-798)tcC>tcT	p.S266S	PITPNM1_ENST00000356404.3_Silent_p.S266S|PITPNM1_ENST00000436757.2_Silent_p.S266S			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	266					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTGGGCCTCGGACCCCTCAC	0.692																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(796-798)tcC>tcT		phosphatidylinositol transfer protein, membrane-associated 1																																				SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267735G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.798C>T	11.37:g.67267735G>A						PITPNM1_ENST00000534749.1_Silent_p.S266S|PITPNM1_ENST00000436757.2_Silent_p.S266S	p.S266S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			6	1023	-			266					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.798C>T	CCDS31620.1																																																																																				0.692	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		25	37	0	0	0	1	0	25	37				
PNPLA4	8228	broad.mit.edu	37	X	7889875	7889875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7889875G>A	ENST00000381042.4	-	4	460	c.290C>T	c.(289-291)tCg>tTg	p.S97L	PNPLA4_ENST00000444736.1_Missense_Mutation_p.S97L|PNPLA4_ENST00000537427.1_Missense_Mutation_p.S10L	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	97	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AGGAAGAATCGACTCCATCCC	0.438																																						ENST00000381042.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(289-291)tCg>tTg		patatin-like phospholipase domain containing 4							88.0	74.0	79.0					X																	7889875		2203	4299	6502	SO:0001583	missense	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7889875G>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.290C>T	X.37:g.7889875G>A	ENSP00000370430:p.Ser97Leu					PNPLA4_ENST00000537427.1_Missense_Mutation_p.S10L|PNPLA4_ENST00000444736.1_Missense_Mutation_p.S97L	p.S97L	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN			4	460	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	97			Patatin.		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	c.290C>T	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	3.379	-0.126697	0.06795	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	T;T;T;T	0.79554	-1.28;-1.28;-1.14;-1.28	4.69	0.798	0.18660	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.104220	0.06769	N	0.783162	T	0.72763	0.3501	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55704	-0.8099	10	0.42905	T	0.14	-1.2702	8.5535	0.33467	0.3597:0.0:0.6403:0.0	.	97	P41247	PLPL4_HUMAN	L	97;97;10;97	ENSP00000370430:S97L;ENSP00000415245:S97L;ENSP00000443157:S10L;ENSP00000406698:S97L	ENSP00000370430:S97L	S	-	2	0	PNPLA4	7849875	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.478000	0.22212	-0.299000	0.08909	-0.909000	0.02823	TCG		0.438	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		13	33	0	0	0	1	0	13	33				
ZC3H12C	85463	broad.mit.edu	37	11	110035300	110035300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110035300C>T	ENST00000278590.3	+	6	1541	c.1490C>T	c.(1489-1491)aCa>aTa	p.T497I	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T498I|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.T466I	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	497							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGCATAAGGACACAAGTCTAC	0.453																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1396-1398)aCa>aTa		zinc finger CCCH-type containing 12C							109.0	106.0	107.0					11																	110035300		1920	4126	6046	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035300C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1490C>T	11.37:g.110035300C>T	ENSP00000278590:p.Thr497Ile					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T498I|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.T497I	p.T466I			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2278	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	497					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1397C>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758694	0.69763	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.33865	1.39;1.39;1.4	5.85	5.85	0.93711	.	0.231384	0.44688	D	0.000423	T	0.47451	0.1446	L	0.51422	1.61	0.40125	D	0.976647	P;P;P	0.52842	0.956;0.706;0.706	P;B;B	0.50082	0.63;0.23;0.23	T	0.45977	-0.9224	10	0.72032	D	0.01	-21.588	20.1775	0.98187	0.0:1.0:0.0:0.0	.	498;497;497	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	I	497;498;466	ENSP00000278590:T497I;ENSP00000431821:T498I;ENSP00000413094:T466I	ENSP00000278590:T497I	T	+	2	0	ZC3H12C	109540510	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	4.408000	0.59761	2.771000	0.95319	0.561000	0.74099	ACA		0.453	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		7	60	0	0	0	1	0	7	60				
PIAS1	8554	broad.mit.edu	37	15	68378743	68378743	+	Missense_Mutation	SNP	C	C	A	rs370200166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68378743C>A	ENST00000249636.6	+	2	272	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	PIAS1_ENST00000545237.1_Missense_Mutation_p.L44M	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	42	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAAAAGCCCTGCATTTGCT	0.483																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(130-132)Ctg>Atg		protein inhibitor of activated STAT, 1							51.0	50.0	50.0					15																	68378743		1864	4104	5968	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68378743C>A	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.124C>A	15.37:g.68378743C>A	ENSP00000249636:p.Leu42Met					PIAS1_ENST00000249636.6_Missense_Mutation_p.L42M	p.L44M			O75925	PIAS1_HUMAN			3	871	+			42			SAP.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.130C>A	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354370	0.82243	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.54071	0.6;0.59	5.73	5.73	0.89815	DNA-binding SAP (3);	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.78252	-0.2276	10	0.87932	D	0	-6.5455	19.49	0.95047	0.0:1.0:0.0:0.0	.	42;42	C5J4B4;O75925	.;PIAS1_HUMAN	M	42;44	ENSP00000249636:L42M;ENSP00000438574:L44M	ENSP00000249636:L42M	L	+	1	2	PIAS1	66165797	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.665000	0.46791	2.704000	0.92352	0.650000	0.86243	CTG		0.483	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			4	29	1	0	1	1	1	4	29				
CNOT1	23019	broad.mit.edu	37	16	58576173	58576173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58576173A>G	ENST00000317147.5	-	33	4974	c.4642T>C	c.(4642-4644)Tat>Cat	p.Y1548H	CNOT1_ENST00000245138.4_Missense_Mutation_p.Y399H|CNOT1_ENST00000569240.1_Missense_Mutation_p.Y1543H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1548	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAGCTTGATATGTTAAAACA	0.408																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(4642-4644)Tat>Cat		CCR4-NOT transcription complex, subunit 1							107.0	101.0	103.0					16																	58576173		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58576173A>G	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4642T>C	16.37:g.58576173A>G	ENSP00000320949:p.Tyr1548His					CNOT1_ENST00000569240.1_Missense_Mutation_p.Y1543H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Y399H	p.Y1548H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	33	4974	-			1548					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.4642T>C	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661796	0.88154	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.47869	0.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.85130	0.979;0.988;0.997	T	0.67829	-0.5569	10	0.18276	T	0.48	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	399;1548;1543	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1548;399;1543	ENSP00000320949:Y1548H	ENSP00000245138:Y399H	Y	-	1	0	CNOT1	57133674	1.000000	0.71417	0.946000	0.38457	0.671000	0.39405	9.285000	0.95894	2.371000	0.80710	0.533000	0.62120	TAT		0.408	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	100	0	0	0	1	0	7	100				
METRNL	284207	broad.mit.edu	37	17	81043069	81043069	+	Missense_Mutation	SNP	G	G	T	rs546723443		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:81043069G>T	ENST00000320095.7	+	2	551	c.426G>T	c.(424-426)caG>caT	p.Q142H	METRNL_ENST00000570778.1_Missense_Mutation_p.Q60H|METRNL_ENST00000571814.1_Missense_Mutation_p.Q60H	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	142					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCCGGGTGCAGTGTTTTGGCC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14080	0.0		0.0	False		,,,				2504	0.0					ENST00000571814.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(178-180)caG>caT		meteorin, glial cell differentiation regulator-like							38.0	47.0	44.0					17																	81043069		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81043069G>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.426G>T	17.37:g.81043069G>T	ENSP00000315731:p.Gln142His					METRNL_ENST00000570778.1_Missense_Mutation_p.Q60H|METRNL_ENST00000320095.7_Missense_Mutation_p.Q142H	p.Q60H			Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		1	1121	+	Breast(20;0.000443)|all_neural(118;0.0779)		142					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.180G>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	g	3.107	-0.183442	0.06340	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.27	-2.17	0.07059	.	0.775970	0.12279	N	0.483084	T	0.26195	0.0639	N	0.24115	0.695	0.32412	N	0.550577	B	0.10296	0.003	B	0.08055	0.003	T	0.28902	-1.0029	8	.	.	.	-18.1972	6.3222	0.21225	0.0881:0.5649:0.2302:0.1169	.	142	Q641Q3	METRL_HUMAN	H	142	.	.	Q	+	3	2	METRNL	78636358	0.419000	0.25449	0.272000	0.24630	0.645000	0.38454	-0.041000	0.12084	-0.079000	0.12707	0.552000	0.68991	CAG		0.622	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		9	52	1	0	1.5842e-08	1	1.90059e-08	9	52				
SRPR	6734	broad.mit.edu	37	11	126136713	126136713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126136713G>A	ENST00000332118.6	-	5	785	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.R183C|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	211					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CGCTTCCTGCGGATCAGCTCC	0.498																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(631-633)Cgc>Tgc		signal recognition particle receptor (docking protein)							144.0	145.0	144.0					11																	126136713		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126136713G>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.631C>T	11.37:g.126136713G>A	ENSP00000328023:p.Arg211Cys					SRPR_ENST00000532259.1_Missense_Mutation_p.R183C	p.R211C	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	5	785	-	all_hematologic(175;0.145)		211					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.631C>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797889	0.90538	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	6.07	6.07	0.98685	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.171084	0.56097	D	0.000038	T	0.65913	0.2737	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.57899	0.981;0.981	P;P	0.56788	0.806;0.806	T	0.64799	-0.6322	9	0.56958	D	0.05	-9.8364	20.239	0.98366	0.0:0.0:1.0:0.0	.	183;211	E9PJS4;P08240	.;SRPR_HUMAN	C	211;183	.	ENSP00000328023:R211C	R	-	1	0	SRPR	125641923	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	5.483000	0.66838	2.884000	0.98904	0.655000	0.94253	CGC		0.498	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		82	128	0	0	0	1	0	82	128				
TESPA1	9840	broad.mit.edu	37	12	55356410	55356410	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55356410A>G	ENST00000449076.1	-	9	1404	c.1272T>C	c.(1270-1272)caT>caC	p.H424H	TESPA1_ENST00000532804.1_Silent_p.H286H|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Silent_p.H286H|TESPA1_ENST00000316577.8_Silent_p.H424H|TESPA1_ENST00000531122.1_Silent_p.H286H	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	424					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CCTTGGCTGGATGGGTTTCCG	0.498																																						ENST00000524622.1																			0											c.(856-858)caT>caC		thymocyte expressed, positive selection associated 1							153.0	156.0	155.0					12																	55356410		1951	4135	6086	SO:0001819	synonymous_variant	9840							g.chr12:55356410A>G	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1272T>C	12.37:g.55356410A>G						TESPA1_ENST00000449076.1_Silent_p.H424H|TESPA1_ENST00000531122.1_Silent_p.H286H|TESPA1_ENST00000316577.8_Silent_p.H424H|TESPA1_ENST00000532804.1_Silent_p.H286H	p.H286H	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1519	-			424					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	c.858T>C	CCDS44913.1																																																																																				0.498	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		19	138	0	0	0	1	0	19	138				
PAQR7	164091	broad.mit.edu	37	1	26189632	26189632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189632C>T	ENST00000374296.3	-	2	1365	c.699G>A	c.(697-699)acG>acA	p.T233T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	233					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATCATCCGTGGTGGGGT	0.597																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(697-699)acG>acA		progestin and adipoQ receptor family member VII							87.0	71.0	76.0					1																	26189632		2203	4300	6503	SO:0001819	synonymous_variant	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189632C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.699G>A	1.37:g.26189632C>T						RP1-125I3.2_ENST00000455431.1_RNA	p.T233T	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1365	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	233					A2A2D3|Q5XKF9|Q86VE4	Silent	SNP	ENST00000374296.3	37	c.699G>A	CCDS267.1																																																																																				0.597	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		22	25	0	0	0	1	0	22	25				
COL12A1	1303	broad.mit.edu	37	6	75893332	75893332	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75893332A>G	ENST00000322507.8	-	10	1634	c.1325T>C	c.(1324-1326)gTg>gCg	p.V442A	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V442A|COL12A1_ENST00000416123.2_Missense_Mutation_p.V442A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	442	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.			IV -> M (in Ref. 4; AAC01506). {ECO:0000305}.	cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACCAAAAACACAATATCGGC	0.299																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1324-1326)gTg>gCg		collagen, type XII, alpha 1							80.0	77.0	78.0					6																	75893332		1824	4081	5905	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893332A>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1325T>C	6.37:g.75893332A>G	ENSP00000325146:p.Val442Ala					COL12A1_ENST00000416123.2_Missense_Mutation_p.V442A|COL12A1_ENST00000483888.2_Missense_Mutation_p.V442A|COL12A1_ENST00000345356.6_Intron	p.V442A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	1634	-			442	IV -> M (in Ref. 4; AAC01506).		VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1325T>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218803	0.79464	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.85773	-2.03;-2.03;-2.03	5.34	5.34	0.76211	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000010	D	0.87740	0.6253	L	0.48362	1.52	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.89350	0.3660	10	0.66056	D	0.02	.	15.6229	0.76820	1.0:0.0:0.0:0.0	.	442;442	D6RGG3;Q99715	.;COCA1_HUMAN	A	442	ENSP00000325146:V442A;ENSP00000412864:V442A;ENSP00000421216:V442A	ENSP00000325146:V442A	V	-	2	0	COL12A1	75950052	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.287000	0.95975	2.145000	0.66743	0.533000	0.62120	GTG		0.299	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		41	72	0	0	0	1	0	41	72				
PLXNB3	5365	broad.mit.edu	37	X	153035557	153035557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153035557C>T	ENST00000361971.5	+	8	1754	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	PLXNB3_ENST00000538282.1_Missense_Mutation_p.S157F|PLXNB3_ENST00000538966.1_Missense_Mutation_p.S570F|PLXNB3_ENST00000538543.1_Missense_Mutation_p.S97F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S200F	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	547					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTTTGTCTGTCCCCCGG	0.617																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1708-1710)tCt>tTt		plexin B3							88.0	82.0	84.0					X																	153035557		2203	4300	6503	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153035557C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1640C>T	X.37:g.153035557C>T	ENSP00000355378:p.Ser547Phe					PLXNB3_ENST00000361971.5_Missense_Mutation_p.S547F|PLXNB3_ENST00000538543.1_Missense_Mutation_p.S97F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S200F|PLXNB3_ENST00000538282.1_Missense_Mutation_p.S157F	p.S570F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			9	1980	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		547					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.1709C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226632	0.39300	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.69040	5.18;5.14;4.56;1.88;-0.37	5.06	1.85	0.25348	.	0.578063	0.17691	N	0.165278	T	0.71459	0.3342	M	0.70595	2.14	0.28615	N	0.908465	P;P;D;P;P	0.53619	0.458;0.734;0.961;0.732;0.613	B;B;P;P;B	0.54815	0.27;0.413;0.761;0.583;0.379	T	0.64993	-0.6276	10	0.72032	D	0.01	.	6.8651	0.24088	0.0:0.5861:0.0:0.4139	.	200;229;97;570;547	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	F	570;547;200;97;157	ENSP00000442736:S570F;ENSP00000355378:S547F;ENSP00000445569:S200F;ENSP00000444086:S97F;ENSP00000441919:S157F	ENSP00000355378:S547F	S	+	2	0	PLXNB3	152688751	0.106000	0.21978	0.995000	0.50966	0.296000	0.27459	0.398000	0.20899	0.380000	0.24823	-0.297000	0.09499	TCT		0.617	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			27	49	0	0	0	1	0	27	49				
PECR	55825	broad.mit.edu	37	2	216914079	216914079	+	Missense_Mutation	SNP	C	C	A	rs148712165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216914079C>A	ENST00000265322.7	-	6	695	c.621G>T	c.(619-621)caG>caT	p.Q207H	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	207					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCACAGCAGTCTGGGAATAAA	0.363																																						ENST00000265322.7																			0				endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14						c.(619-621)caG>caT		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)	C	HIS/GLN	2,4404	4.2+/-10.8	0,2,2201	80.0	87.0	85.0		621	0.6	1.0	2	dbSNP_134	85	0,8600		0,0,4300	no	missense	PECR	NM_018441.5	24	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	benign	207/304	216914079	2,13004	2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216914079C>A	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.621G>T	2.37:g.216914079C>A	ENSP00000265322:p.Gln207His					PECR_ENST00000497889.1_5'UTR	p.Q207H	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	695	-		Renal(323;0.0327)	207					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.621G>T	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943334	0.34283	4.54E-4	0.0	ENSG00000115425	ENST00000265322	D	0.88277	-2.36	5.73	0.567	0.17325	NAD(P)-binding domain (1);	0.685951	0.15667	N	0.250590	T	0.82153	0.4975	N	0.19112	0.55	0.27833	N	0.941384	P;B	0.43392	0.805;0.031	P;B	0.46885	0.53;0.01	T	0.74842	-0.3527	10	0.62326	D	0.03	.	7.4478	0.27221	0.0:0.457:0.3886:0.1544	.	207;61	Q9BY49;Q9BY49-2	PECR_HUMAN;.	H	207	ENSP00000265322:Q207H	ENSP00000265322:Q207H	Q	-	3	2	PECR	216622324	0.718000	0.27976	0.983000	0.44433	0.318000	0.28184	0.172000	0.16704	0.348000	0.23949	-0.150000	0.13652	CAG		0.363	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		6	110	1	0	0.00116845	1	0.00124821	6	110				
LRP5L	91355	broad.mit.edu	37	22	25750681	25750681	+	Silent	SNP	G	G	A	rs150219610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25750681G>A	ENST00000402785.2	-	3	633	c.537C>T	c.(535-537)acC>acT	p.T179T	LRP5L_ENST00000402859.2_Silent_p.T179T|LRP5L_ENST00000444995.3_Silent_p.T179T			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	179					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCTGCCAGGCGGTCCAGTAGA	0.577																																						ENST00000444995.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(535-537)acC>acT		low density lipoprotein receptor-related protein 5-like		G	,	0,4400		0,0,2200	183.0	150.0	161.0		537,537	-4.9	0.6	22	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	LRP5L	NM_001135772.1,NM_182492.2	,	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	,	179/253,179/253	25750681	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	91355							g.chr22:25750681G>A	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.537C>T	22.37:g.25750681G>A						LRP5L_ENST00000402785.2_Silent_p.T179T|LRP5L_ENST00000402859.2_Silent_p.T179T	p.T179T			A4QPB2	LRP5L_HUMAN			6	1237	-			179					B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	37	c.537C>T	CCDS33626.1																																																																																				0.577	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		6	56	0	0	0	1	0	6	56				
ZFYVE27	118813	broad.mit.edu	37	10	99509276	99509276	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99509276G>A	ENST00000393677.4	+	6	801	c.597G>A	c.(595-597)ctG>ctA	p.L199L	ZFYVE27_ENST00000356257.4_Silent_p.L199L|ZFYVE27_ENST00000453958.2_Silent_p.L199L|ZFYVE27_ENST00000359980.3_Silent_p.L199L|ZFYVE27_ENST00000337540.7_Silent_p.L167L|ZFYVE27_ENST00000370610.3_Silent_p.L101L|ZFYVE27_ENST00000370613.3_Silent_p.L81L|ZFYVE27_ENST00000357540.4_Silent_p.L113L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	199					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TGTATTTGCTGCCACTCTGCT	0.522																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(595-597)ctG>ctA		zinc finger, FYVE domain containing 27							145.0	123.0	131.0					10																	99509276		2203	4300	6503	SO:0001819	synonymous_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99509276G>A	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.597G>A	10.37:g.99509276G>A						ZFYVE27_ENST00000337540.7_Silent_p.L167L|ZFYVE27_ENST00000357540.4_Silent_p.L113L|ZFYVE27_ENST00000356257.4_Silent_p.L199L|ZFYVE27_ENST00000370610.3_Silent_p.L101L|ZFYVE27_ENST00000370613.3_Silent_p.L81L|ZFYVE27_ENST00000359980.3_Silent_p.L199L|ZFYVE27_ENST00000453958.2_Silent_p.L199L	p.L199L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	6	801	+		Colorectal(252;0.0846)	199					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	ENST00000393677.4	37	c.597G>A	CCDS31263.1																																																																																				0.522	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		12	76	0	0	0	1	0	12	76				
FLG	2312	broad.mit.edu	37	1	152281570	152281570	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152281570G>T	ENST00000368799.1	-	3	5827	c.5792C>A	c.(5791-5793)tCt>tAt	p.S1931Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1931	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCTCTCAGAGTCTTCTGA	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5791-5793)tCt>tAt		filaggrin							215.0	214.0	214.0					1																	152281570		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281570G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5792C>A	1.37:g.152281570G>T	ENSP00000357789:p.Ser1931Tyr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1931Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5827	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1931			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5792C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.691	0.907457	0.17833	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03801	3.8	2.82	-0.645	0.11475	.	.	.	.	.	T	0.05868	0.0153	M	0.76002	2.32	0.09310	N	1	D	0.62365	0.991	P	0.60886	0.88	T	0.16897	-1.0387	9	0.54805	T	0.06	.	5.0708	0.14606	0.0:0.2058:0.3745:0.4197	.	1931	P20930	FILA_HUMAN	Y	1931;166	ENSP00000357789:S1931Y	ENSP00000271820:S166Y	S	-	2	0	FLG	150548194	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.184000	0.09698	-0.102000	0.12197	0.586000	0.80456	TCT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	301	1	0	1.06961e-07	1	1.26574e-07	7	301				
NMUR2	56923	broad.mit.edu	37	5	151784197	151784197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151784197G>A	ENST00000255262.3	-	1	643	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	160					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCCCGGCGCCGGGTGCTCTGC	0.632																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(478-480)Cgg>Tgg		neuromedin U receptor 2							41.0	49.0	46.0					5																	151784197		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784197G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.478C>T	5.37:g.151784197G>A	ENSP00000255262:p.Arg160Trp					NMUR2_ENST00000518933.1_Intron	p.R160W	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	643	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	160					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.478C>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259188	0.59321	.	.	ENSG00000132911	ENST00000255262	T	0.73152	-0.72	5.34	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.092322	0.46758	D	0.000273	D	0.85539	0.5720	M	0.89840	3.065	0.48901	D	0.999723	D	0.89917	1.0	D	0.83275	0.996	D	0.87916	0.2700	10	0.66056	D	0.02	-19.7083	12.7639	0.57380	0.0:0.0:0.68:0.32	.	160	Q9GZQ4	NMUR2_HUMAN	W	160	ENSP00000255262:R160W	ENSP00000255262:R160W	R	-	1	2	NMUR2	151764390	0.010000	0.17322	0.991000	0.47740	0.319000	0.28217	0.667000	0.25112	1.179000	0.42884	0.585000	0.79938	CGG		0.632	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		18	36	0	0	0	1	0	18	36				
FRMPD4	9758	broad.mit.edu	37	X	12735195	12735195	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12735195C>A	ENST00000380682.1	+	15	3123	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	873					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTCTCCACGCTGGGAGCTCT	0.502																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2617-2619)Ctg>Atg		FERM and PDZ domain containing 4							89.0	83.0	85.0					X																	12735195		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735195C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2617C>A	X.37:g.12735195C>A	ENSP00000370057:p.Leu873Met						p.L873M	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	3123	+			873					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2617C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848475	0.51164	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.20200	2.09	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.49304	0.1549	M	0.78049	2.395	0.34830	D	0.739602	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.65623	-0.6123	10	0.87932	D	0	.	17.8303	0.88680	0.0:1.0:0.0:0.0	.	865;873	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	M	873;864;862	ENSP00000370057:L873M	ENSP00000304583:L862M	L	+	1	2	FRMPD4	12645116	0.998000	0.40836	0.995000	0.50966	0.789000	0.44602	3.489000	0.53237	2.230000	0.72887	0.600000	0.82982	CTG		0.502	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		8	92	1	0	0.000274275	1	0.000298791	8	92				
CLCN5	1184	broad.mit.edu	37	X	49851517	49851517	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49851517T>A	ENST00000307367.2	+	8	1628	c.1337T>A	c.(1336-1338)tTt>tAt	p.F446Y	CLCN5_ENST00000376088.3_Missense_Mutation_p.F516Y|CLCN5_ENST00000376091.3_Missense_Mutation_p.F516Y|CLCN5_ENST00000376108.3_Missense_Mutation_p.F446Y			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	446					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATATTCACCTTTGGCATGAAG	0.493																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1546-1548)tTt>tAt		chloride channel, voltage-sensitive 5							56.0	54.0	55.0					X																	49851517		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851517T>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1337T>A	X.37:g.49851517T>A	ENSP00000304257:p.Phe446Tyr					CLCN5_ENST00000376108.3_Missense_Mutation_p.F446Y|CLCN5_ENST00000376091.3_Missense_Mutation_p.F516Y|CLCN5_ENST00000307367.2_Missense_Mutation_p.F446Y	p.F516Y	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			11	2188	+	Ovarian(276;0.236)		446		R -> W (in NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function).			A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1547T>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287087	0.80803	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.48	5.48	0.80851	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	L	0.50333	1.59	0.80722	D	1	P;D	0.61080	0.757;0.989	P;D	0.70487	0.521;0.969	D	0.93962	0.7241	10	0.34782	T	0.22	-2.5168	13.5374	0.61653	0.0:0.0:0.0:1.0	.	446;516	P51795;P51795-2	CLCN5_HUMAN;.	Y	516;348;516;446;446	ENSP00000365256:F516Y;ENSP00000365259:F516Y;ENSP00000365276:F446Y;ENSP00000304257:F446Y	ENSP00000304257:F446Y	F	+	2	0	CLCN5	49738257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.821000	0.86641	1.840000	0.53500	0.417000	0.27973	TTT		0.493	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			21	27	0	0	0	1	0	21	27				
FERMT1	55612	broad.mit.edu	37	20	6065807	6065807	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6065807G>T	ENST00000217289.4	-	12	2287	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	FERMT1_ENST00000536936.1_Missense_Mutation_p.S243Y|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	500	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGAGATGCAGAGTTCCTGTT	0.478																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1498-1500)tCt>tAt		fermitin family member 1							137.0	120.0	126.0					20																	6065807		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6065807G>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1499C>A	20.37:g.6065807G>T	ENSP00000217289:p.Ser500Tyr					FERMT1_ENST00000536936.1_Missense_Mutation_p.S243Y|FERMT1_ENST00000478194.1_5'UTR	p.S500Y	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			12	2287	-			500			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1499C>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	g	9.855	1.194714	0.22037	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.58797	0.89;0.31	5.17	0.983	0.19767	Band 4.1 domain (1);FERM central domain (2);	0.600012	0.17593	N	0.168704	T	0.45236	0.1332	L	0.29908	0.895	0.09310	N	1	B	0.23806	0.091	B	0.31245	0.126	T	0.41106	-0.9527	10	0.46703	T	0.11	-18.2201	10.2135	0.43156	0.3595:0.0:0.6405:0.0	.	500	Q9BQL6	FERM1_HUMAN	Y	500;243;500	ENSP00000217289:S500Y;ENSP00000441063:S243Y	ENSP00000217289:S500Y	S	-	2	0	FERMT1	6013807	0.927000	0.31430	0.006000	0.13384	0.317000	0.28152	3.221000	0.51215	0.023000	0.15187	-0.265000	0.10407	TCT		0.478	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		5	97	1	0	0.000602214	1	0.000649039	5	97				
DHRS4L2	317749	broad.mit.edu	37	14	24464264	24464264	+	Silent	SNP	C	C	T	rs370782611		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24464264C>T	ENST00000335125.6	+	3	456	c.330C>T	c.(328-330)atC>atT	p.I110I	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Silent_p.I9I|DHRS4L2_ENST00000382755.4_Silent_p.I108I|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Silent_p.I110I|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000545240.1_Silent_p.I110I	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	108						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		ATGGAGGTATCGATATCCTAG	0.493																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(328-330)atC>atT		dehydrogenase/reductase (SDR family) member 4 like 2							514.0	474.0	488.0					14																	24464264		2203	4300	6503	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24464264C>T		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.330C>T	14.37:g.24464264C>T						DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Silent_p.I110I|DHRS4L2_ENST00000397071.1_Silent_p.I110I|DHRS4L2_ENST00000534993.1_Silent_p.I9I|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.I108I	p.I110I	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	456	+			74					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.330C>T	CCDS9606.2																																																																																				0.493	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			10	584	0	0	0	1	0	10	584				
FNDC3A	22862	broad.mit.edu	37	13	49749565	49749565	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49749565C>A	ENST00000492622.2	+	13	1723	c.1418C>A	c.(1417-1419)cCt>cAt	p.P473H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P473H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P417H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	473	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGCAAGTCCTGTATTAACC	0.388																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(1417-1419)cCt>cAt		fibronectin type III domain containing 3A							85.0	80.0	82.0					13																	49749565		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49749565C>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1418C>A	13.37:g.49749565C>A	ENSP00000417257:p.Pro473His					FNDC3A_ENST00000541916.1_Missense_Mutation_p.P473H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P417H	p.P473H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	13	1723	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	473			Fibronectin type-III 3.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1418C>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567009	0.86439	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58210	0.35;0.35;0.35	5.75	5.75	0.90469	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.81702	0.4878	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83937	0.0309	10	0.33940	T	0.23	-20.325	18.9404	0.92602	0.0:1.0:0.0:0.0	.	417;473;473	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	H	473;409;473;417	ENSP00000417257:P473H;ENSP00000441831:P473H;ENSP00000381362:P417H	ENSP00000338579:P409H	P	+	2	0	FNDC3A	48647566	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.197000	0.77814	2.725000	0.93324	0.655000	0.94253	CCT		0.388	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		5	48	1	0	1.024e-07	1	1.214e-07	5	48				
ARID4A	5926	broad.mit.edu	37	14	58831923	58831923	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831923G>C	ENST00000355431.3	+	20	3489	c.3116G>C	c.(3115-3117)gGt>gCt	p.G1039A	ARID4A_ENST00000348476.3_Missense_Mutation_p.G1039A|ARID4A_ENST00000431317.2_Missense_Mutation_p.G1039A|ARID4A_ENST00000395168.3_Missense_Mutation_p.G1039A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1039					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCAAGAAGGTCTCTGTGAG	0.408																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3115-3117)gGt>gCt		AT rich interactive domain 4A (RBP1-like)							89.0	92.0	91.0					14																	58831923		2203	4299	6502	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831923G>C	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3116G>C	14.37:g.58831923G>C	ENSP00000347602:p.Gly1039Ala					ARID4A_ENST00000431317.2_Missense_Mutation_p.G1039A|ARID4A_ENST00000348476.3_Missense_Mutation_p.G1039A|ARID4A_ENST00000395168.3_Missense_Mutation_p.G1039A	p.G1039A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	3489	+			1039					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3116G>C	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132791	0.37630	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.17370	2.55;2.4;2.41;2.4;2.28	5.64	4.7	0.59300	.	0.388620	0.29466	N	0.012074	T	0.38241	0.1033	L	0.60455	1.87	0.51233	D	0.999919	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.986	T	0.03051	-1.1078	10	0.45353	T	0.12	-16.7462	16.049	0.80744	0.0:0.1341:0.8659:0.0	.	1039;1039;1039	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	A	1039;1039;1039;1039;717	ENSP00000347602:G1039A;ENSP00000344556:G1039A;ENSP00000378597:G1039A;ENSP00000397368:G1039A;ENSP00000416053:G717A	ENSP00000344556:G1039A	G	+	2	0	ARID4A	57901676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.132000	0.64758	2.676000	0.91093	0.557000	0.71058	GGT		0.408	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		31	75	0	0	0	1	0	31	75				
IGFN1	91156	broad.mit.edu	37	1	201193940	201193940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201193940C>T	ENST00000335211.4	+	21	10554	c.10424C>T	c.(10423-10425)aCt>aTt	p.T3475I	IGFN1_ENST00000295591.8_Intron|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1018						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCTCTACACTGTGGTGCTG	0.597																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10423-10425)aCt>aTt		immunoglobulin-like and fibronectin type III domain containing 1							88.0	69.0	75.0					1																	201193940		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201193940C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10424C>T	1.37:g.201193940C>T	ENSP00000334714:p.Thr3475Ile					IGFN1_ENST00000295591.8_Intron	p.T3475I	NM_001164586.1	NP_001158058.1					21	10554	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10424C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214595	0.39102	.	.	ENSG00000163395	ENST00000335211	T	0.74947	-0.89	4.11	3.15	0.36227	.	0.234553	0.33180	N	0.005199	D	0.85048	0.5608	M	0.86178	2.8	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	D	0.86007	0.1498	10	0.66056	D	0.02	.	11.1982	0.48726	0.1842:0.8158:0.0:0.0	.	3475	F8WAI1	.	I	3475	ENSP00000334714:T3475I	ENSP00000334714:T3475I	T	+	2	0	IGFN1	199460563	0.119000	0.22226	0.644000	0.29465	0.271000	0.26615	2.761000	0.47589	0.865000	0.35603	0.491000	0.48974	ACT		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		19	9	0	0	0	1	0	19	9				
OR5M3	219482	broad.mit.edu	37	11	56237886	56237886	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56237886G>A	ENST00000312240.2	-	1	128	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TAGACCACAAGAAAGATGATG	0.433																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(88-90)Ctt>Ttt		olfactory receptor, family 5, subfamily M, member 3							106.0	92.0	97.0					11																	56237886		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237886G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.88C>T	11.37:g.56237886G>A	ENSP00000312208:p.Leu30Phe						p.L30F	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	128	-	Esophageal squamous(21;0.00448)		30					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.88C>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084805	0.36758	.	.	ENSG00000174937	ENST00000312240	T	0.01804	4.63	5.21	5.21	0.72293	.	0.000000	0.32593	N	0.005886	T	0.08935	0.0221	L	0.60067	1.865	0.33295	D	0.564043	D	0.89917	1.0	D	0.91635	0.999	T	0.01889	-1.1253	10	0.56958	D	0.05	-10.5929	17.3265	0.87249	0.0:0.0:1.0:0.0	.	30	Q8NGP4	OR5M3_HUMAN	F	30	ENSP00000312208:L30F	ENSP00000312208:L30F	L	-	1	0	OR5M3	55994462	0.003000	0.15002	0.108000	0.21378	0.019000	0.09904	0.227000	0.17795	2.424000	0.82194	0.478000	0.44815	CTT		0.433	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		35	56	0	0	0	1	0	35	56				
RAI14	26064	broad.mit.edu	37	5	34808726	34808726	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34808726C>T	ENST00000265109.3	+	7	704	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RAI14_ENST00000515799.1_Silent_p.C142C|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Silent_p.C139C|RAI14_ENST00000512629.1_Silent_p.C139C|RAI14_ENST00000506376.1_Silent_p.C131C|RAI14_ENST00000397449.1_Silent_p.C132C|RAI14_ENST00000503673.1_Silent_p.C139C	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	139						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATTCTCTGCGAACACAAGA	0.478																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(415-417)tgC>tgT		retinoic acid induced 14							124.0	111.0	115.0					5																	34808726		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34808726C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.417C>T	5.37:g.34808726C>T						RAI14_ENST00000506376.1_Silent_p.C131C|RAI14_ENST00000512629.1_Silent_p.C139C|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Silent_p.C139C|RAI14_ENST00000515799.1_Silent_p.C142C|RAI14_ENST00000397449.1_Silent_p.C132C|RAI14_ENST00000503673.1_Silent_p.C139C	p.C139C	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			7	704	+	all_lung(31;0.000191)		139					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.417C>T	CCDS34142.1																																																																																				0.478	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		14	22	0	0	0	1	0	14	22				
ALOX5	240	broad.mit.edu	37	10	45938504	45938504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45938504G>A	ENST00000374391.2	+	10	1344	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	ALOX5_ENST00000542434.1_Missense_Mutation_p.G431S|RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000493336.1_3'UTR	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	431	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CACAGGGGGCGGTGGGCACGT	0.647																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1291-1293)Ggt>Agt		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						68.0	70.0	69.0					10																	45938504		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45938504G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1291G>A	10.37:g.45938504G>A	ENSP00000363512:p.Gly431Ser					ALOX5_ENST00000493336.1_3'UTR|ALOX5_ENST00000542434.1_Missense_Mutation_p.G431S	p.G431S	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			10	1344	+		Lung SC(717;0.0257)	431			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1291G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786629	0.90367	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.77620	-1.11;-1.11	5.56	5.56	0.83823	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.82200	-0.0575	10	0.19590	T	0.45	-24.0631	17.0093	0.86401	0.0:0.0:1.0:0.0	.	431;431	B7ZLS0;P09917	.;LOX5_HUMAN	S	431	ENSP00000437634:G431S;ENSP00000363512:G431S	ENSP00000363512:G431S	G	+	1	0	ALOX5	45258510	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	9.869000	0.99810	2.609000	0.88269	0.457000	0.33378	GGT		0.647	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			4	86	0	0	0	1	0	4	86				
GGT5	2687	broad.mit.edu	37	22	24622178	24622178	+	Silent	SNP	G	G	A	rs144798635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24622178G>A	ENST00000327365.4	-	8	1511	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	GGT5_ENST00000398292.3_Silent_p.I365I|GGT5_ENST00000418439.2_Silent_p.I288I|GGT5_ENST00000263112.7_Silent_p.I333I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	365					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.I365I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCGGCCATCGATCTGTTGGC	0.692																																						ENST00000327365.4																			1	Substitution - coding silent(1)	p.I365I(1)	skin(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1093-1095)atC>atT		gamma-glutamyltransferase 5							31.0	35.0	33.0					22																	24622178		2203	4298	6501	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622178G>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1095C>T	22.37:g.24622178G>A						GGT5_ENST00000398292.3_Silent_p.I365I|GGT5_ENST00000263112.7_Silent_p.I333I|GGT5_ENST00000418439.2_Silent_p.I288I	p.I365I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1511	-			365					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.1095C>T	CCDS13825.1																																																																																				0.692	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		19	29	0	0	0	1	0	19	29				
CPT1A	1374	broad.mit.edu	37	11	68540734	68540734	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68540734T>C	ENST00000265641.5	-	14	1893	c.1739A>G	c.(1738-1740)aAg>aGg	p.K580R	CPT1A_ENST00000540367.1_Splice_Site_p.K580R|CPT1A_ENST00000539743.1_Splice_Site_p.K580R|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Splice_Site_p.K580R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	580					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTTCTTACCTTGTAGTGCGC	0.562																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e14+1		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						61.0	57.0	59.0					11																	68540734		2200	4294	6494	SO:0001630	splice_region_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68540734T>C	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1740+1A>G	11.37:g.68540734T>C						CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000540367.1_Splice_Site_p.K580_splice|CPT1A_ENST00000539743.1_Splice_Site_p.K580_splice|CPT1A_ENST00000376618.2_Splice_Site_p.K580_splice	p.K580_splice	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		14	1893	-	Esophageal squamous(3;3.28e-14)		580					Q8TCU0|Q9BWK0	Splice_Site	SNP	ENST00000265641.5	37	c.1740_splice	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	T	1.737	-0.492735	0.04322	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.82	1.07	0.20283	.	0.102207	0.64402	N	0.000005	T	0.65026	0.2652	N	0.01824	-0.7	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.002	T	0.58842	-0.7565	10	0.02654	T	1	.	7.1813	0.25774	0.0:0.4992:0.0:0.5008	.	580;580	P50416;P50416-2	CPT1A_HUMAN;.	R	580	ENSP00000439084:K580R;ENSP00000365803:K580R;ENSP00000265641:K580R;ENSP00000446108:K580R	ENSP00000265641:K580R	K	-	2	0	CPT1A	68297310	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	3.637000	0.54324	0.258000	0.21686	0.247000	0.18012	AAG		0.562	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	Missense_Mutation	21	16	0	0	0	1	0	21	16				
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T	rs180917395	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	16					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587													T|||	4	0.000798722	0.0	0.0	5008	,	,		19052	0.004		0.0	False		,,,				2504	0.0					ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(46-48)Gcc>Acc		apolipoprotein A-IV							133.0	128.0	129.0					11																	116693862		2201	4292	6493	SO:0001583	missense	337							g.chr11:116693862C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.46G>A	11.37:g.116693862C>T	ENSP00000350425:p.Ala16Thr						p.A16T	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	1	160	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.46G>A	CCDS31681.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	3.413	-0.119846	0.06838	.	.	ENSG00000110244	ENST00000357780	T	0.70399	-0.48	4.33	3.15	0.36227	.	0.172534	0.40302	N	0.001133	T	0.24586	0.0596	N	0.00265	-1.74	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	10	0.02654	T	1	.	3.7025	0.08387	0.189:0.1025:0.0:0.7085	.	16	P06727	APOA4_HUMAN	T	16	ENSP00000350425:A16T	ENSP00000350425:A16T	A	-	1	0	APOA4	116199072	0.672000	0.27530	0.748000	0.31131	0.699000	0.40488	0.438000	0.21559	0.402000	0.25451	-0.254000	0.11334	GCC		0.587	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		55	92	0	0	0	1	0	55	92				
PRMT5	10419	broad.mit.edu	37	14	23390200	23390200	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23390200C>T	ENST00000324366.8	-	17	2050	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K	PRMT5_ENST00000216350.8_Silent_p.K548K|PRMT5-AS1_ENST00000587245.2_RNA|RBM23_ENST00000359890.3_5'Flank|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|RBM23_ENST00000399922.2_5'Flank|PRMT5-AS1_ENST00000424245.2_RNA|RBM23_ENST00000542016.2_5'Flank|RBM23_ENST00000555209.1_5'Flank|RBM23_ENST00000346528.5_5'Flank|PRMT5_ENST00000553897.1_Silent_p.K565K|PRMT5-AS1_ENST00000457443.2_RNA|RBM23_ENST00000556984.1_5'Flank|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000397440.4_Silent_p.K438K|PRMT5_ENST00000397441.2_Silent_p.K592K|PRMT5_ENST00000538452.1_Silent_p.K503K|PRMT5-AS1_ENST00000590290.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	609	Beta barrel. {ECO:0000269|PubMed:23071334}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACCACACCTTCTTGGAATTGC	0.522																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(1825-1827)aaG>aaA		protein arginine methyltransferase 5							158.0	128.0	138.0					14																	23390200		2203	4300	6503	SO:0001819	synonymous_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23390200C>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1827G>A	14.37:g.23390200C>T						PRMT5_ENST00000397441.2_Silent_p.K592K|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000216350.8_Silent_p.K548K|PRMT5_ENST00000553897.1_Silent_p.K565K|PRMT5_ENST00000538452.1_Silent_p.K503K|PRMT5_ENST00000397440.4_Silent_p.K438K	p.K609K	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	17	2050	-	all_cancers(95;2.76e-05)		609					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	ENST00000324366.8	37	c.1827G>A	CCDS9579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.23|15.23	2.772617|2.772617	0.49680|0.49680	.|.	.|.	ENSG00000100462|ENSG00000100462	ENST00000454731|ENST00000557443	.|.	.|.	.|.	5.78|5.78	4.9|4.9	0.64082|0.64082	.|.	.|.	.|.	.|.	.|.	T|T	0.69717|0.69717	0.3142|0.3142	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68812|0.68812	-0.5310|-0.5310	4|4	.|.	.|.	.|.	-21.5345|-21.5345	13.6324|13.6324	0.62202|0.62202	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	.|.	.|.	.|.	K|K	151|44	.|.	.|.	E|R	-|-	1|2	0|0	PRMT5|PRMT5	22460040|22460040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.253000|4.253000	0.58791|0.58791	1.461000|1.461000	0.47929|0.47929	0.455000|0.455000	0.32223|0.32223	GAA|AGA		0.522	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			14	29	0	0	0	1	0	14	29				
ZNF234	10780	broad.mit.edu	37	19	44661371	44661371	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661371A>G	ENST00000426739.2	+	6	1460	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R	ZNF234_ENST00000592437.1_Missense_Mutation_p.K401R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCCATACAAATGCAATGAG	0.423																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1201-1203)aAa>aGa		zinc finger protein 234							50.0	53.0	52.0					19																	44661371		2151	4278	6429	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661371A>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1202A>G	19.37:g.44661371A>G	ENSP00000400878:p.Lys401Arg					ZNF234_ENST00000592437.1_Missense_Mutation_p.K401R	p.K401R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1460	+		Prostate(69;0.0435)	401					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1202A>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642283	0.29246	.	.	ENSG00000167380	ENST00000426739	T	0.56941	0.43	4.04	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42810	0.1219	L	0.48986	1.54	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.40942	-0.9536	9	0.62326	D	0.03	.	4.3062	0.10947	0.6228:0.1694:0.2077:0.0	.	401	Q14588	ZN234_HUMAN	R	401	ENSP00000400878:K401R	ENSP00000400878:K401R	K	+	2	0	ZNF226	49353211	0.000000	0.05858	0.688000	0.30117	0.948000	0.59901	-0.356000	0.07661	0.167000	0.19631	0.482000	0.46254	AAA		0.423	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	26	0	0	0	1	0	3	26				
CYP11B1	1584	broad.mit.edu	37	8	143957747	143957747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143957747G>A	ENST00000292427.4	-	5	896	c.864C>T	c.(862-864)agC>agT	p.S288S	CYP11B1_ENST00000377675.3_Silent_p.S359S|CYP11B1_ENST00000517471.1_Silent_p.S288S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	288					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCGCCACGATGCTGGTGTACT	0.587									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(862-864)agC>agT		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						121.0	100.0	107.0					8																	143957747		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957747G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.864C>T	8.37:g.143957747G>A						CYP11B1_ENST00000517471.1_Silent_p.S288S|CYP11B1_ENST00000377675.3_Silent_p.S359S	p.S288S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			5	896	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		288					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.864C>T	CCDS6392.1																																																																																				0.587	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			8	14	0	0	0	1	0	8	14				
AHRR	57491	broad.mit.edu	37	5	432971	432971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:432971G>A	ENST00000505113.1	+	10	1077	c.1033G>A	c.(1033-1035)Gct>Act	p.A345T	AHRR_ENST00000512529.1_Missense_Mutation_p.A191T|AHRR_ENST00000506456.1_Missense_Mutation_p.A201T|AHRR_ENST00000316418.5_Missense_Mutation_p.A363T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	345					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGACTGACGCTGGCCGATG	0.657																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1087-1089)Gct>Act		aryl-hydrocarbon receptor repressor							35.0	40.0	39.0					5																	432971		2008	4166	6174	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:432971G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1033G>A	5.37:g.432971G>A	ENSP00000424601:p.Ala345Thr					AHRR_ENST00000505113.1_Missense_Mutation_p.A345T|AHRR_ENST00000512529.1_Missense_Mutation_p.A191T|AHRR_ENST00000506456.1_Missense_Mutation_p.A201T	p.A363T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		11	1131	+			345					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1087G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	8.126	0.782090	0.16189	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.22336	2.28;2.27;1.96;1.96	4.63	-4.15	0.03881	.	0.530980	0.18225	N	0.147751	T	0.10121	0.0248	N	0.25647	0.755	0.09310	N	1	B;B;B	0.15141	0.012;0.009;0.008	B;B;B	0.08055	0.002;0.002;0.003	T	0.23797	-1.0178	10	0.22109	T	0.4	.	6.884	0.24189	0.5541:0.127:0.3189:0.0	.	201;345;363	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	T	345;363;191;201	ENSP00000424601:A345T;ENSP00000323816:A363T;ENSP00000424880:A191T;ENSP00000426932:A201T	ENSP00000323816:A363T	A	+	1	0	AHRR	485971	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.107000	0.10873	-1.079000	0.03113	-1.018000	0.02450	GCT		0.657	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		8	16	0	0	0	1	0	8	16				
SLC36A4	120103	broad.mit.edu	37	11	92881927	92881927	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92881927G>T	ENST00000326402.4	-	11	1421	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	SLC36A4_ENST00000529184.1_Missense_Mutation_p.L296M	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	431					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAAGGTGGCAGGATTAGGGCC	0.393																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1291-1293)Ctg>Atg		solute carrier family 36 (proton/amino acid symporter), member 4							62.0	67.0	65.0					11																	92881927		2200	4298	6498	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92881927G>T	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1291C>A	11.37:g.92881927G>T	ENSP00000317382:p.Leu431Met					SLC36A4_ENST00000529184.1_Missense_Mutation_p.L296M	p.L431M	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			11	1421	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	431					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.1291C>A	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145790	0.57044	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.04406	3.63;3.63	5.38	5.38	0.77491	.	0.084454	0.48767	D	0.000176	T	0.19087	0.0458	M	0.72353	2.195	0.33548	D	0.595781	D	0.67145	0.996	D	0.70487	0.969	T	0.07065	-1.0792	10	0.66056	D	0.02	-10.3402	13.4411	0.61114	0.0755:0.0:0.9245:0.0	.	431	Q6YBV0	S36A4_HUMAN	M	431;296	ENSP00000317382:L431M;ENSP00000436570:L296M	ENSP00000317382:L431M	L	-	1	2	SLC36A4	92521575	1.000000	0.71417	0.980000	0.43619	0.801000	0.45260	2.317000	0.43770	2.515000	0.84797	0.455000	0.32223	CTG		0.393	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			7	52	1	0	0.0477658	1	0.0488009	7	52				
PHF2	5253	broad.mit.edu	37	9	96339133	96339133	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96339133C>T	ENST00000359246.4	+	1	445	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PHF2_ENST00000375376.4_Silent_p.C26C	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	26				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCGACGCCTGCAAGGACTGGT	0.756																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(76-78)tgC>tgT		PHD finger protein 2							21.0	18.0	19.0					9																	96339133		2196	4290	6486	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96339133C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.78C>T	9.37:g.96339133C>T						PHF2_ENST00000375376.4_Silent_p.C26C	p.C26C	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	1	445	+		Myeloproliferative disorder(762;0.0255)	26	FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).				Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.78C>T	CCDS35069.1																																																																																				0.756	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		3	8	0	0	0	1	0	3	8				
IL16	3603	broad.mit.edu	37	15	81593699	81593699	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81593699G>T	ENST00000302987.4	+	14	3164	c.3164G>T	c.(3163-3165)aGa>aTa	p.R1055I	IL16_ENST00000394652.2_Missense_Mutation_p.R354I|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.R1055I			Q14005	IL16_HUMAN	interleukin 16	1055	Interaction with HTLV-1 tax.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGAGCTGAGAGAATATACA	0.438																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3163-3165)aGa>aTa		interleukin 16							85.0	81.0	82.0					15																	81593699		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81593699G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3164G>T	15.37:g.81593699G>T	ENSP00000302935:p.Arg1055Ile					IL16_ENST00000394652.2_Missense_Mutation_p.R354I|IL16_ENST00000302987.4_Missense_Mutation_p.R1055I	p.R1055I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			15	3524	+			1055			Interaction with HTLV-1 tax.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3164G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405778	0.62288	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.15718	2.42;2.4;3.08	4.87	4.87	0.63330	.	0.000000	0.46442	D	0.000300	T	0.41696	0.1170	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.994;0.999;0.999	T	0.23368	-1.0190	10	0.18710	T	0.47	.	18.0043	0.89205	0.0:0.0:1.0:0.0	.	887;548;592;445;1055;1055	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	I	1055;887;1055;592;445;354;354	ENSP00000378155:R1055I;ENSP00000302935:R1055I;ENSP00000378147:R354I	ENSP00000302935:R1055I	R	+	2	0	IL16	79380754	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	7.415000	0.80131	2.258000	0.74832	0.561000	0.74099	AGA		0.438	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		5	40	1	0	1.23904e-05	1	1.39987e-05	5	40				
C4orf17	84103	broad.mit.edu	37	4	100451060	100451060	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100451060A>G	ENST00000326581.4	+	5	853	c.491A>G	c.(490-492)aAt>aGt	p.N164S	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000514652.1_Missense_Mutation_p.N164S	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	164										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGTACCAAGAATGATGTGAAA	0.393																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(490-492)aAt>aGt		chromosome 4 open reading frame 17							97.0	91.0	93.0					4																	100451060		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100451060A>G	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.491A>G	4.37:g.100451060A>G	ENSP00000322582:p.Asn164Ser					C4orf17_ENST00000326581.4_Missense_Mutation_p.N164S|C4orf17_ENST00000503257.1_3'UTR	p.N164S			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	5	845	+			164					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.491A>G	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	A	8.235	0.805583	0.16467	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.16743	2.32;2.32	4.77	-0.625	0.11548	.	1.190600	0.06214	N	0.685467	T	0.04137	0.0115	N	0.01576	-0.805	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.38023	-0.9680	10	0.06625	T	0.88	0.136	0.6553	0.00833	0.3553:0.2976:0.1371:0.21	.	164	Q53FE4	CD017_HUMAN	S	164	ENSP00000322582:N164S;ENSP00000427663:N164S	ENSP00000322582:N164S	N	+	2	0	C4orf17	100670083	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.031000	0.03578	0.161000	0.19458	0.533000	0.62120	AAT		0.393	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		8	44	0	0	0	1	0	8	44				
ZNF609	23060	broad.mit.edu	37	15	64791910	64791910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64791910G>T	ENST00000326648.3	+	1	420	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	ZNF609_ENST00000416172.1_Missense_Mutation_p.D98Y	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	98						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGGCAAAGACACTAGCAA	0.532																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(292-294)Gac>Tac		zinc finger protein 609							82.0	76.0	78.0					15																	64791910		2203	4300	6503	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64791910G>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.292G>T	15.37:g.64791910G>T	ENSP00000316527:p.Asp98Tyr					ZNF609_ENST00000416172.1_Missense_Mutation_p.D98Y	p.D98Y	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			1	420	+			98					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.292G>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346590	0.61073	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.57752	0.38	5.5	5.5	0.81552	.	0.056544	0.64402	D	0.000001	T	0.73450	0.3588	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.982	T	0.75252	-0.3383	10	0.87932	D	0	-17.6347	19.7614	0.96319	0.0:0.0:1.0:0.0	.	98;98	E7ERY8;O15014	.;ZN609_HUMAN	Y	98	ENSP00000316527:D98Y	ENSP00000316527:D98Y	D	+	1	0	ZNF609	62578963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.996000	0.88334	2.747000	0.94245	0.651000	0.88453	GAC		0.532	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		23	63	1	0	2.32416e-17	1	3.01417e-17	23	63				
ZNF831	128611	broad.mit.edu	37	20	57767536	57767536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767536G>A	ENST00000371030.2	+	1	1462	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCCACTCCGTCCCCACTCA	0.692																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1462-1464)Gtc>Atc		zinc finger protein 831							27.0	32.0	30.0					20																	57767536		2003	4165	6168	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767536G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1462G>A	20.37:g.57767536G>A	ENSP00000360069:p.Val488Ile						p.V488I	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1462	+	all_lung(29;0.0085)		488					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1462G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863039	0.71949	.	.	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.21	4.26	0.50523	.	.	.	.	.	T	0.11196	0.0273	L	0.55743	1.74	0.29772	N	0.83471	P	0.38788	0.647	B	0.28709	0.093	T	0.04509	-1.0946	9	0.87932	D	0	-21.5516	13.0557	0.58980	0.0778:0.0:0.9222:0.0	.	488	Q5JPB2	ZN831_HUMAN	I	488	ENSP00000360069:V488I	ENSP00000360069:V488I	V	+	1	0	ZNF831	57200931	1.000000	0.71417	0.718000	0.30602	0.823000	0.46562	4.608000	0.61141	1.193000	0.43086	-0.137000	0.14449	GTC		0.692	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	18	0	0	0	1	0	13	18				
GAS2L2	246176	broad.mit.edu	37	17	34072536	34072536	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072536C>A	ENST00000254466.6	-	6	2007	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.Q644H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	660					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGGGACCCCTGAGCCAGTT	0.627																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1978-1980)caG>caT		growth arrest-specific 2 like 2							78.0	92.0	87.0					17																	34072536		2203	4299	6502	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072536C>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1980G>T	17.37:g.34072536C>A	ENSP00000254466:p.Gln660His					GAS2L2_ENST00000587565.1_Missense_Mutation_p.Q644H	p.Q660H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2007	-		Ovarian(249;0.17)	660					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1980G>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	7.563	0.665195	0.14710	.	.	ENSG00000132139	ENST00000254466	T	0.20069	2.1	4.58	2.47	0.30058	.	0.241081	0.28273	N	0.015955	T	0.14442	0.0349	L	0.32530	0.975	0.28999	N	0.887592	B	0.15141	0.012	B	0.14023	0.01	T	0.11131	-1.0600	10	0.66056	D	0.02	-13.856	6.8461	0.23988	0.1723:0.7338:0.0:0.0939	.	660	Q8NHY3	GA2L2_HUMAN	H	660	ENSP00000254466:Q660H	ENSP00000254466:Q660H	Q	-	3	2	GAS2L2	31096649	0.959000	0.32827	0.992000	0.48379	0.089000	0.18198	1.012000	0.29924	1.122000	0.41944	0.313000	0.20887	CAG		0.627	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		11	137	1	0	1.58986e-06	1	1.84011e-06	11	137				
BZRAP1	9256	broad.mit.edu	37	17	56395645	56395645	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56395645G>T	ENST00000343736.4	-	14	2031	c.1868C>A	c.(1867-1869)cCt>cAt	p.P623H	BZRAP1_ENST00000355701.3_Missense_Mutation_p.P623H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P563H			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	623						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTACCTCAGGTGTAGGGCA	0.612																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1867-1869)cCt>cAt		benzodiazapine receptor (peripheral) associated protein 1							137.0	123.0	127.0					17																	56395645		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56395645G>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1868C>A	17.37:g.56395645G>T	ENSP00000345824:p.Pro623His					BZRAP1_ENST00000268893.6_Missense_Mutation_p.P563H|BZRAP1_ENST00000343736.4_Missense_Mutation_p.P623H	p.P623H	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			14	2738	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		623					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1868C>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242865	0.58995	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.87809	-2.3;-2.3;-2.3	5.2	5.2	0.72013	.	0.237105	0.43579	D	0.000548	D	0.88753	0.6522	N	0.25647	0.755	0.35171	D	0.771564	D;P;B	0.58268	0.982;0.811;0.409	D;P;B	0.63597	0.916;0.554;0.117	D	0.91575	0.5274	10	0.46703	T	0.11	.	17.7095	0.88318	0.0:0.0:1.0:0.0	.	623;563;623	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	H	623;623;563	ENSP00000347929:P623H;ENSP00000345824:P623H;ENSP00000268893:P563H	ENSP00000268893:P563H	P	-	2	0	BZRAP1	53750644	1.000000	0.71417	0.924000	0.36721	0.864000	0.49448	4.906000	0.63293	2.418000	0.82041	0.491000	0.48974	CCT		0.612	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		20	42	1	0	3.01185e-09	1	3.6461e-09	20	42				
TUBB6	84617	broad.mit.edu	37	18	12325589	12325589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12325589G>A	ENST00000317702.5	+	4	1035	c.801G>A	c.(799-801)atG>atA	p.M267I	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	267					'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)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACTTCTTCATGCCTGGCTTCG	0.672																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(799-801)atG>atA		tubulin, beta 6 class V							43.0	40.0	41.0					18																	12325589		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325589G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.801G>A	18.37:g.12325589G>A	ENSP00000318697:p.Met267Ile					TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR	p.M267I			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	1035	+			267					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.801G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676886	0.47886	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.81579	-1.51	5.32	5.32	0.75619	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	L	0.57536	1.79	0.80722	D	1	B;B	0.12630	0.006;0.002	B;B	0.22386	0.036;0.039	T	0.77236	-0.2662	10	0.87932	D	0	.	19.4306	0.94762	0.0:0.0:1.0:0.0	.	239;267	B4DP54;Q9BUF5	.;TBB6_HUMAN	I	267;195;239	ENSP00000318697:M267I	ENSP00000318697:M267I	M	+	3	0	TUBB6	12315589	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.663000	0.98605	2.673000	0.90976	0.558000	0.71614	ATG		0.672	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		10	18	0	0	0	1	0	10	18				
POLR2A	5430	broad.mit.edu	37	17	7399865	7399865	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7399865G>T	ENST00000322644.6	+	4	869	c.470G>T	c.(469-471)gGg>gTg	p.G157V	POLR2A_ENST00000572844.1_Missense_Mutation_p.G157V	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	157					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGCGAGGGTGGGGAGGAGATG	0.532																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(469-471)gGg>gTg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							143.0	148.0	146.0					17																	7399865		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399865G>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.470G>T	17.37:g.7399865G>T	ENSP00000314949:p.Gly157Val					POLR2A_ENST00000572844.1_Missense_Mutation_p.G157V	p.G157V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			4	869	+		Prostate(122;0.173)	157					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.470G>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396440	0.83011	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.22743	1.94	5.57	5.57	0.84162	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.85197	2.74	0.80722	D	1	P;D	0.58620	0.621;0.983	P;P	0.52031	0.688;0.666	T	0.52223	-0.8604	10	0.87932	D	0	.	18.3126	0.90206	0.0:0.0:1.0:0.0	.	157;157	P24928;Q6NX41	RPB1_HUMAN;.	V	113;157	ENSP00000314949:G157V	ENSP00000314949:G157V	G	+	2	0	SLC35G6	7340589	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.211000	0.95120	2.625000	0.88918	0.467000	0.42956	GGG		0.532	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		12	133	1	0	1.49906e-05	1	1.69169e-05	12	133				
ACACA	31	broad.mit.edu	37	17	35600310	35600310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35600310G>A	ENST00000394406.2	-	22	2987	c.2797C>T	c.(2797-2799)Ctc>Ttc	p.L933F	ACACA_ENST00000335166.5_Missense_Mutation_p.L855F|ACACA_ENST00000360679.3_Missense_Mutation_p.L875F|ACACA_ENST00000353139.5_Missense_Mutation_p.L970F	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	933					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACTGACAGAGGACTGATGTG	0.433																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2908-2910)Ctc>Ttc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						181.0	170.0	174.0					17																	35600310		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600310G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2797C>T	17.37:g.35600310G>A	ENSP00000377928:p.Leu933Phe					ACACA_ENST00000335166.5_Missense_Mutation_p.L855F|ACACA_ENST00000360679.3_Missense_Mutation_p.L875F|ACACA_ENST00000394406.2_Missense_Mutation_p.L933F	p.L970F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3389	-		Breast(25;0.00157)|Ovarian(249;0.15)	933					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2908C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110595	0.56398	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.73	3.75	0.43078	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.68952	2.095	0.80722	D	1	D;P;P	0.89917	1.0;0.645;0.779	D;B;B	0.97110	1.0;0.411;0.381	T	0.73088	-0.4093	10	0.51188	T	0.08	-7.0838	8.1949	0.31389	0.0834:0.16:0.7566:0.0	.	970;933;875	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	F	970;875;933;957;855	ENSP00000344789:L970F;ENSP00000353898:L875F;ENSP00000377928:L933F;ENSP00000335323:L855F	ENSP00000335323:L855F	L	-	1	0	ACACA	32674423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.588000	0.74076	1.329000	0.45376	0.655000	0.94253	CTC		0.433	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		45	73	0	0	0	1	0	45	73				
VEZF1	7716	broad.mit.edu	37	17	56060664	56060664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56060664G>T	ENST00000581208.1	-	2	164	c.124C>A	c.(124-126)Cca>Aca	p.P42T	VEZF1_ENST00000584396.1_Missense_Mutation_p.P33T	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	42					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGAAGCAATGGTTTCTGATCA	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(97-99)Cca>Aca		vascular endothelial zinc finger 1							105.0	112.0	109.0					17																	56060664		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060664G>T	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.124C>A	17.37:g.56060664G>T	ENSP00000462337:p.Pro42Thr					VEZF1_ENST00000581208.1_Missense_Mutation_p.P42T	p.P33T			Q14119	VEZF1_HUMAN			2	185	-			42						Missense_Mutation	SNP	ENST00000581208.1	37	c.97C>A	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254286	0.39896	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.83	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	L	0.27053	0.805	0.80722	D	1	B	0.29862	0.259	B	0.20955	0.032	T	0.46247	-0.9205	9	0.72032	D	0.01	-6.0227	16.3531	0.83224	0.0:0.0:0.8669:0.1331	.	42	Q14119	VEZF1_HUMAN	T	42	.	ENSP00000258963:P42T	P	-	1	0	VEZF1	53415663	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.466000	0.97665	1.461000	0.47929	0.643000	0.83706	CCA		0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			9	153	1	0	3.09899e-07	1	3.63227e-07	9	153				
MARCH7	64844	broad.mit.edu	37	2	160599690	160599690	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160599690G>T	ENST00000259050.4	+	3	394	c.272G>T	c.(271-273)aGa>aTa	p.R91I	MARCH7_ENST00000409175.1_Missense_Mutation_p.R91I|MARCH7_ENST00000409591.1_Missense_Mutation_p.R53I|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Missense_Mutation_p.R91I	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	91	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATTCAAAAAGACCTAAACTT	0.408																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(271-273)aGa>aTa		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							137.0	133.0	134.0					2																	160599690		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160599690G>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.272G>T	2.37:g.160599690G>T	ENSP00000259050:p.Arg91Ile					MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.R53I|MARCH7_ENST00000409175.1_Missense_Mutation_p.R91I|MARCH7_ENST00000539065.1_Missense_Mutation_p.R91I	p.R91I	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			3	394	+			91			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.272G>T	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831507	0.71258	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037;ENST00000409591	T;T;T;T;T	0.61510	2.1;1.41;2.1;0.1;2.09	5.54	5.54	0.83059	.	0.095176	0.64402	D	0.000001	T	0.74619	0.3740	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.83275	0.996;0.991;0.991	T	0.76531	-0.2925	10	0.87932	D	0	-13.0933	17.6728	0.88223	0.0:0.0:1.0:0.0	.	91;53;91	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	I	91;91;91;91;53	ENSP00000386830:R91I;ENSP00000442992:R91I;ENSP00000259050:R91I;ENSP00000392862:R91I;ENSP00000387238:R53I	ENSP00000259050:R91I	R	+	2	0	MARCH7	160307936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.147000	0.77382	2.607000	0.88179	0.650000	0.86243	AGA		0.408	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		10	78	1	0	9.70103e-10	1	1.18443e-09	10	78				
EPB42	2038	broad.mit.edu	37	15	43500847	43500847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43500847C>A	ENST00000441366.2	-	7	1184	c.959G>T	c.(958-960)aGa>aTa	p.R320I	EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000540029.1_Missense_Mutation_p.R242I|EPB42_ENST00000300215.3_Missense_Mutation_p.R350I	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	320					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GATTCTGCCTCTCTGGCCTTC	0.577																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1048-1050)aGa>aTa		erythrocyte membrane protein band 4.2							212.0	217.0	215.0					15																	43500847		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43500847C>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.959G>T	15.37:g.43500847C>A	ENSP00000396616:p.Arg320Ile					EPB42_ENST00000540029.1_Missense_Mutation_p.R242I|EPB42_ENST00000441366.2_Missense_Mutation_p.R320I	p.R350I			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	7	1506	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	320	H -> D (in Ref. 1; AAA74589/AAA52385 and 2; AAA35798).				Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1049G>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623881	0.66901	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.87729	-2.29;-2.29;-2.29	5.05	0.102	0.14522	Transglutaminase-like (2);	0.627207	0.18039	N	0.153700	D	0.90967	0.7160	M	0.84948	2.725	0.09310	N	1	P;D;D;D	0.55800	0.662;0.973;0.966;0.973	B;P;P;P	0.57846	0.316;0.828;0.648;0.828	D	0.83584	0.0119	10	0.72032	D	0.01	-2.5274	8.9769	0.35941	0.0:0.5096:0.402:0.0885	.	242;320;350;320	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	I	350;242;320;320	ENSP00000300215:R350I;ENSP00000444699:R242I;ENSP00000396616:R320I	ENSP00000300215:R350I	R	-	2	0	EPB42	41288139	0.000000	0.05858	0.271000	0.24616	0.992000	0.81027	-0.196000	0.09532	0.167000	0.19631	0.561000	0.74099	AGA		0.577	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		71	207	1	0	8.87156e-34	1	1.19225e-33	71	207				
TRPC4AP	26133	broad.mit.edu	37	20	33632378	33632378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33632378C>T	ENST00000252015.2	-	7	884	c.795G>A	c.(793-795)acG>acA	p.T265T	TRPC4AP_ENST00000451813.2_Silent_p.T265T|TRPC4AP_ENST00000432634.2_Silent_p.T226T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	265	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGCAAGAAGCGTGTGCTTGT	0.448																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(793-795)acG>acA		transient receptor potential cation channel, subfamily C, member 4 associated protein							139.0	135.0	136.0					20																	33632378		2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33632378C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.795G>A	20.37:g.33632378C>T						TRPC4AP_ENST00000451813.1_Silent_p.T265T|TRPC4AP_ENST00000432634.2_Silent_p.T226T	p.T265T			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		7	884	-			265			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.795G>A	CCDS13246.1																																																																																				0.448	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		47	96	0	0	0	1	0	47	96				
HIST1H4E	8367	broad.mit.edu	37	6	26205090	26205090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26205090A>G	ENST00000360441.4	+	1	233	c.218A>G	c.(217-219)tAc>tGc	p.Y73C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	73					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCTGTGACTTACACGGAGCAC	0.557																																						ENST00000360441.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(217-219)tAc>tGc		histone cluster 1, H4e							149.0	129.0	136.0					6																	26205090		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205090A>G	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.218A>G	6.37:g.26205090A>G	ENSP00000353624:p.Tyr73Cys						p.Y73C	NM_003545.3	NP_003536.1	P62805	H4_HUMAN			1	233	+		all_hematologic(11;0.196)	73					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.218A>G	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.618924	0.46736	.	.	ENSG00000198518	ENST00000360441	T	0.66460	-0.21	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000001	T	0.63931	0.2553	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.68708	-0.5337	7	0.72032	D	0.01	.	9.8663	0.41145	1.0:0.0:0.0:0.0	.	.	.	.	C	73	ENSP00000353624:Y73C	ENSP00000353624:Y73C	Y	+	2	0	HIST1H4E	26313069	1.000000	0.71417	0.939000	0.37840	0.153000	0.21895	8.711000	0.91396	1.246000	0.43901	0.533000	0.62120	TAC		0.557	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		3	52	0	0	0	1	0	3	52				
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	G	A	rs148673423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65855119G>A	ENST00000395325.3	+	10	1360	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	DNAJC6_ENST00000371069.4_Silent_p.T458T|DNAJC6_ENST00000263441.7_Silent_p.T388T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.T401T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAAGATACGCTGGCCTTAG	0.413																																						ENST00000395325.3																			1	Substitution - coding silent(1)	p.T401T(1)	lung(1)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1201-1203)acG>acA		DnaJ (Hsp40) homolog, subfamily C, member 6		G		1,4405	2.1+/-5.4	0,1,2202	134.0	116.0	122.0		1203	-2.3	0.8	1	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	DNAJC6	NM_014787.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		401/914	65855119	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855119G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1203G>A	1.37:g.65855119G>A						DNAJC6_ENST00000263441.7_Silent_p.T388T|DNAJC6_ENST00000371069.4_Silent_p.T458T	p.T401T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			10	1360	+			401					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1203G>A	CCDS30739.1																																																																																				0.413	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			13	46	0	0	0	1	0	13	46				
CPNE2	221184	broad.mit.edu	37	16	57144795	57144795	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57144795C>A	ENST00000535318.2	+	3	502	c.141C>A	c.(139-141)ttC>ttA	p.F47L	CPNE2_ENST00000565874.1_Missense_Mutation_p.F47L|CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000290776.8_Missense_Mutation_p.F47L			Q96FN4	CPNE2_HUMAN	copine II	47	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCGACCCCTTCTGTGTCCTCT	0.602																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(139-141)ttC>ttA		copine II							112.0	96.0	101.0					16																	57144795		2198	4300	6498	SO:0001583	missense	221184							g.chr16:57144795C>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.141C>A	16.37:g.57144795C>A	ENSP00000439018:p.Phe47Leu					CPNE2_ENST00000565874.1_Missense_Mutation_p.F47L|CPNE2_ENST00000290776.8_Missense_Mutation_p.F47L|CPNE2_ENST00000537605.1_5'UTR	p.F47L			Q96FN4	CPNE2_HUMAN			3	502	+		all_neural(199;0.224)	47			C2 1.		Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	c.141C>A	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	8.434	0.849380	0.17034	.	.	ENSG00000140848	ENST00000290776;ENST00000535318	T;T	0.70164	-0.46;-0.46	5.27	5.27	0.74061	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.41079	1.255	0.80722	D	1	B;B	0.21821	0.061;0.021	B;B	0.24541	0.054;0.028	T	0.54536	-0.8279	10	0.05525	T	0.97	-19.0746	19.0978	0.93260	0.0:1.0:0.0:0.0	.	47;47	A8K8A4;Q96FN4	.;CPNE2_HUMAN	L	47	ENSP00000290776:F47L;ENSP00000439018:F47L	ENSP00000290776:F47L	F	+	3	2	CPNE2	55702296	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.451000	0.60047	2.735000	0.93741	0.655000	0.94253	TTC		0.602	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		18	73	1	0	1.96292e-10	1	2.41709e-10	18	73				
NCOR1	9611	broad.mit.edu	37	17	16068429	16068429	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16068429G>A	ENST00000268712.3	-	5	739	c.482C>T	c.(481-483)tCg>tTg	p.S161L	NCOR1_ENST00000395848.1_Missense_Mutation_p.S52L|NCOR1_ENST00000395851.1_Missense_Mutation_p.S161L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	161	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGTTGCCCCGAAATTGGAGA	0.388																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(481-483)tCg>tTg		nuclear receptor corepressor 1							112.0	106.0	108.0					17																	16068429		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16068429G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.482C>T	17.37:g.16068429G>A	ENSP00000268712:p.Ser161Leu					NCOR1_ENST00000395851.1_Missense_Mutation_p.S161L|NCOR1_ENST00000395848.1_Missense_Mutation_p.S52L	p.S161L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	739	-			161			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.482C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618397	0.46736	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T	0.50813	0.78;1.35;0.73	5.04	5.04	0.67666	.	0.447700	0.28414	N	0.015440	T	0.44180	0.1281	L	0.60455	1.87	0.80722	D	1	B;P;B;P;B;B;B	0.38148	0.045;0.62;0.02;0.62;0.003;0.004;0.296	B;B;B;B;B;B;B	0.29077	0.011;0.098;0.005;0.098;0.001;0.004;0.016	T	0.53774	-0.8391	10	0.72032	D	0.01	-0.3937	17.4183	0.87507	0.0:0.0:1.0:0.0	.	161;161;161;161;52;161;161	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	L	161;161;52;161;52;161;161	ENSP00000268712:S161L;ENSP00000379192:S161L;ENSP00000379189:S52L	ENSP00000268712:S161L	S	-	2	0	NCOR1	16009154	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	6.501000	0.73691	2.349000	0.79799	0.478000	0.44815	TCG		0.388	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		21	121	0	0	0	1	0	21	121				
CLPSL1	340204	broad.mit.edu	37	6	35754807	35754807	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35754807C>T	ENST00000373861.5	+	2	226	c.132C>T	c.(130-132)gaC>gaT	p.D44D	CLPSL1_ENST00000542261.1_Silent_p.D43D			A2RUU4	COLL1_HUMAN	colipase-like 1	44					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										GGAACCAGGACTGCGAGACTG	0.677																																						ENST00000373861.5																			0											c.(130-132)gaC>gaT		colipase-like 1							19.0	27.0	24.0					6																	35754807		2150	4259	6409	SO:0001819	synonymous_variant	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754807C>T		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.132C>T	6.37:g.35754807C>T						CLPSL1_ENST00000542261.1_Silent_p.D43D	p.D44D			A2RUU4	CF127_HUMAN			2	226	+			44					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Silent	SNP	ENST00000373861.5	37	c.132C>T	CCDS43456.1																																																																																				0.677	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		3	2	0	0	0	1	0	3	2				
CDC25B	994	broad.mit.edu	37	20	3778368	3778368	+	Silent	SNP	G	G	A	rs147311787	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3778368G>A	ENST00000245960.5	+	2	997	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Silent_p.S100S|CDC25B_ENST00000379598.5_Silent_p.S36S|CDC25B_ENST00000439880.2_Silent_p.S86S|CDC25B_ENST00000344256.6_Silent_p.S36S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	100					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCTCCCTGTCGTCTGAATCCT	0.627													G|||	18	0.00359425	0.0121	0.0029	5008	,	,		17939	0.0		0.0	False		,,,				2504	0.0					ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(298-300)tcG>tcA		cell division cycle 25B		G	,,	32,4374	37.6+/-69.7	0,32,2171	81.0	84.0	83.0		258,300,300	-3.0	1.0	20	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	,,	0,33,6470	AA,AG,GG		0.0116,0.7263,0.2537	,,	86/567,100/540,100/581	3778368	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3778368G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.300G>A	20.37:g.3778368G>A						CDC25B_ENST00000340833.4_Silent_p.S100S|CDC25B_ENST00000439880.2_Silent_p.S86S|CDC25B_ENST00000344256.6_Silent_p.S36S|CDC25B_ENST00000379598.5_Silent_p.S36S|CDC25B_ENST00000467519.1_3'UTR	p.S100S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			2	997	+			100					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	c.300G>A	CCDS13067.1																																																																																				0.627	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		54	74	0	0	0	1	0	54	74				
SPIRE2	84501	broad.mit.edu	37	16	89929992	89929992	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89929992C>T	ENST00000378247.3	+	11	1727	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SPIRE2_ENST00000393062.2_Missense_Mutation_p.L562F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	562					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GAACAAGGAGCTCTTCAGCAG	0.622																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1684-1686)Ctc>Ttc		spire-type actin nucleation factor 2							77.0	66.0	70.0					16																	89929992		2197	4300	6497	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89929992C>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1684C>T	16.37:g.89929992C>T	ENSP00000367494:p.Leu562Phe					SPIRE2_ENST00000393062.2_Missense_Mutation_p.L562F	p.L562F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	11	1727	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	562					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.1684C>T	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666157	0.88251	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.77358	-1.09;0.4	5.5	4.52	0.55395	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;0.997;1.0	D;D;D;D	0.83275	0.94;0.996;0.94;0.982	D	0.89720	0.3918	10	0.66056	D	0.02	-39.2282	15.4913	0.75607	0.0:0.8619:0.138:0.0	.	429;562;514;562	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	F	562	ENSP00000367494:L562F;ENSP00000376782:L562F	ENSP00000367494:L562F	L	+	1	0	SPIRE2	88457493	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.706000	0.37878	2.591000	0.87537	0.313000	0.20887	CTC		0.622	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		17	46	0	0	0	1	0	17	46				
CDYL	9425	broad.mit.edu	37	6	4892311	4892311	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4892311G>A	ENST00000328908.5	+	4	682	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.R130Q|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	184	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCTCCAGCCGGAAGAACATG	0.537																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(550-552)cGg>cAg		chromodomain protein, Y-like							84.0	86.0	85.0					6																	4892311		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892311G>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.551G>A	6.37:g.4892311G>A	ENSP00000330512:p.Arg184Gln					CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.R130Q	p.R184Q			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	682	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	184					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.551G>A		.	.	.	.	.	.	.	.	.	.	G	17.06	3.292306	0.59976	.	.	ENSG00000153046	ENST00000328908;ENST00000397588	T;T	0.57595	0.77;0.39	5.79	5.79	0.91817	.	0.148826	0.42548	U	0.000683	T	0.31827	0.0809	L	0.33485	1.01	0.80722	D	1	B;B	0.19935	0.021;0.04	B;B	0.12837	0.006;0.008	T	0.05989	-1.0852	10	0.35671	T	0.21	.	19.0316	0.92959	0.0:0.0:1.0:0.0	.	130;184	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	Q	184;130	ENSP00000330512:R184Q;ENSP00000380718:R130Q	ENSP00000330512:R184Q	R	+	2	0	CDYL	4837310	1.000000	0.71417	0.940000	0.37924	0.985000	0.73830	9.417000	0.97391	2.731000	0.93534	0.650000	0.86243	CGG		0.537	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		32	30	0	0	0	1	0	32	30				
CCDC88C	440193	broad.mit.edu	37	14	91776271	91776271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91776271G>T	ENST00000389857.6	-	16	2882	c.2796C>A	c.(2794-2796)agC>agA	p.S932R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	932					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCAGTTCCTGGCTCAGCTTGT	0.602																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2794-2796)agC>agA		coiled-coil domain containing 88C							41.0	46.0	45.0					14																	91776271		2069	4205	6274	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91776271G>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2796C>A	14.37:g.91776271G>T	ENSP00000374507:p.Ser932Arg						p.S932R	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			16	2882	-		all_cancers(154;0.0468)	932					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2796C>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714157	0.48622	.	.	ENSG00000015133	ENST00000389857	T	0.15256	2.44	5.59	4.68	0.58851	.	0.000000	0.64402	U	0.000017	T	0.21590	0.0520	M	0.76574	2.34	0.80722	D	1	P	0.37158	0.585	B	0.38500	0.275	T	0.02721	-1.1119	10	0.62326	D	0.03	-15.6212	7.1052	0.25360	0.07:0.1256:0.6746:0.1299	.	932	Q9P219	DAPLE_HUMAN	R	932	ENSP00000374507:S932R	ENSP00000374507:S932R	S	-	3	2	CCDC88C	90846024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.640000	0.46579	1.300000	0.44818	0.491000	0.48974	AGC		0.602	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	12	1	0	0.00307968	1	0.00325696	6	12				
PRSS58	136541	broad.mit.edu	37	7	141952105	141952105	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141952105A>C	ENST00000552471.1	-	5	981	c.662T>G	c.(661-663)gTt>gGt	p.V221G	PRSS58_ENST00000547058.2_Missense_Mutation_p.V221G			Q8IYP2	PRS58_HUMAN	protease, serine, 58	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATAGATGCCAACATCGGCTCT	0.438																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(661-663)gTt>gGt		protease, serine, 58							63.0	69.0	67.0					7																	141952105		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952105A>C		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.662T>G	7.37:g.141952105A>C	ENSP00000446916:p.Val221Gly					PRSS58_ENST00000547058.2_Missense_Mutation_p.V221G	p.V221G			Q8IYP2	PRS58_HUMAN			5	981	-			221			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.662T>G	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683856	0.47991	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.81821	-1.54;-1.54	5.24	2.83	0.33086	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.72236	0.3435	L	0.47716	1.5	0.50632	D	0.999887	B	0.30439	0.279	B	0.31290	0.127	T	0.70835	-0.4764	9	0.72032	D	0.01	.	6.6925	0.23181	0.8111:0.0:0.1889:0.0	.	221	Q8IYP2	PRS58_HUMAN	G	221	ENSP00000447588:V221G;ENSP00000446916:V221G	ENSP00000307206:V221G	V	-	2	0	PRSS58	141598583	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.812000	0.55628	1.018000	0.39521	0.533000	0.62120	GTT		0.438	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		10	42	0	0	0	1	0	10	42				
HAUS6	54801	broad.mit.edu	37	9	19102726	19102726	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19102726C>A	ENST00000380502.3	-	0	391					NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATCCCTCCCTACGGTCAGC	0.632																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27								HAUS augmin-like complex, subunit 6																																						54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19102726C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19102726C>A								NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			0	391	-								B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Translation_Start_Site	SNP	ENST00000380502.3	37		CCDS6489.1																																																																																				0.632	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		3	12	1	0	0.004672	1	0.0049138	3	12				
SIGMAR1	10280	broad.mit.edu	37	9	34636994	34636994	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34636994C>A	ENST00000277010.4	-	3	518	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W	SIGMAR1_ENST00000477726.1_Intron|SIGMAR1_ENST00000378892.1_Splice_Site_p.G60W|SIGMAR1_ENST00000461426.1_Intron	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	149					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	TCTTACCCACCTGGGTAGAAG	0.592																																						ENST00000378892.1																			0				large_intestine(1)|lung(1)	2						c.e2+1		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						65.0	59.0	61.0					9																	34636994		2203	4300	6503	SO:0001630	splice_region_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34636994C>A	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.445+1G>T	9.37:g.34636994C>A						SIGMAR1_ENST00000477726.1_Intron|SIGMAR1_ENST00000277010.4_Splice_Site_p.G149_splice|SIGMAR1_ENST00000461426.1_Intron	p.G60_splice			Q99720	SGMR1_HUMAN			2	605	-			149					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Splice_Site	SNP	ENST00000277010.4	37	c.178_splice	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005990	0.93287	.	.	ENSG00000147955	ENST00000378892;ENST00000277010;ENST00000360710	D;D	0.84370	-1.84;-1.84	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.94016	0.8083	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95378	0.8470	10	0.87932	D	0	-25.1738	16.4076	0.83691	0.0:1.0:0.0:0.0	.	149;129	Q99720;Q99720-2	SGMR1_HUMAN;.	W	60;149;115	ENSP00000368170:G60W;ENSP00000277010:G149W	ENSP00000277010:G149W	G	-	1	0	SIGMAR1	34626994	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.623000	0.83113	2.434000	0.82447	0.462000	0.41574	GGG		0.592	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866	Missense_Mutation	4	24	1	0	0.00909568	1	0.00947522	4	24				
MYO5C	55930	broad.mit.edu	37	15	52539740	52539740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52539740G>T	ENST00000261839.7	-	15	1957	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	599	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACCAAAAGGAGAAGGAGG	0.438																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1795-1797)cCt>cAt		myosin VC							121.0	114.0	116.0					15																	52539740		1896	4113	6009	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52539740G>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1796C>A	15.37:g.52539740G>T	ENSP00000261839:p.Pro599His					MYO5C_ENST00000443683.2_3'UTR	p.P599H	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	15	1957	-			599			Myosin head-like.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.1796C>A	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181542	0.38511	.	.	ENSG00000128833	ENST00000261839	D	0.87029	-2.2	5.55	4.64	0.57946	Myosin head, motor domain (2);	0.136157	0.50627	D	0.000112	T	0.80939	0.4720	L	0.33485	1.01	0.80722	D	1	B	0.20887	0.049	B	0.28553	0.091	T	0.76321	-0.3002	10	0.42905	T	0.14	.	9.8555	0.41084	0.0703:0.0:0.7922:0.1374	.	599	Q9NQX4	MYO5C_HUMAN	H	599	ENSP00000261839:P599H	ENSP00000261839:P599H	P	-	2	0	MYO5C	50327032	0.997000	0.39634	0.791000	0.31998	0.114000	0.19823	2.649000	0.46656	1.478000	0.48253	0.655000	0.94253	CCT		0.438	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		8	74	1	0	0.000157383	1	0.00017284	8	74				
PKD1L2	114780	broad.mit.edu	37	16	81232505	81232505	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232505G>T	ENST00000525539.1	-	0	1304				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGATTGTAGAGGTGGTGGTGT	0.567																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1303-1305)acC>acA		polycystic kidney disease 1-like 2							192.0	194.0	193.0					16																	81232505		1987	4141	6128			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232505G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232505G>T						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA	p.T435T			Q7Z442	PK1L2_HUMAN			7	1304	-			435			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1305C>A																																																																																					0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			15	164	1	0	0.00400662	1	0.00423533	15	164				
TSPAN8	7103	broad.mit.edu	37	12	71551452	71551452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71551452C>A	ENST00000393330.2	-	5	559	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	TSPAN8_ENST00000247829.3_Missense_Mutation_p.G3C|TSPAN8_ENST00000546561.1_Missense_Mutation_p.G3C|TSPAN8_ENST00000552786.1_5'UTR			P19075	TSN8_HUMAN	tetraspanin 8	3					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCACTCACACCTGCCATTTCG	0.393																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(7-9)Ggt>Tgt		tetraspanin 8							69.0	76.0	74.0					12																	71551452		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71551452C>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.7G>T	12.37:g.71551452C>A	ENSP00000377003:p.Gly3Cys					TSPAN8_ENST00000546561.1_Missense_Mutation_p.G3C|TSPAN8_ENST00000247829.3_Missense_Mutation_p.G3C|TSPAN8_ENST00000552786.1_5'UTR	p.G3C			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		5	559	-			3					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.7G>T	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419818	0.83559	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	T;T;T	0.47528	0.84;0.84;0.84	5.85	5.85	0.93711	.	0.110384	0.64402	D	0.000008	T	0.60301	0.2258	L	0.58810	1.83	0.80722	D	1	D	0.71674	0.998	P	0.58013	0.831	T	0.57487	-0.7803	10	0.42905	T	0.14	.	15.6589	0.77165	0.0:1.0:0.0:0.0	.	3	P19075	TSN8_HUMAN	C	3	ENSP00000377003:G3C;ENSP00000247829:G3C;ENSP00000447160:G3C	ENSP00000247829:G3C	G	-	1	0	TSPAN8	69837719	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.569000	0.45973	2.770000	0.95276	0.563000	0.77884	GGT		0.393	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		4	58	1	0	0.000602214	1	0.000649039	4	58				
MFRP	83552	broad.mit.edu	37	11	119217195	119217195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119217195C>T	ENST00000530681.1	-	1	173	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.C10Y|MFRP_ENST00000360167.4_Missense_Mutation_p.C10Y|MFRP_ENST00000449574.2_Missense_Mutation_p.C10Y|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	10					embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGCCTCCATGCAGAGGATGAC	0.562																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(28-30)tGc>tAc		membrane frizzled-related protein							159.0	142.0	147.0					11																	119217195		2199	4295	6494	SO:0001583	missense	83552							g.chr11:119217195C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.29G>A	11.37:g.119217195C>T	ENSP00000456533:p.Cys10Tyr					C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.C10Y|MFRP_ENST00000449574.2_Missense_Mutation_p.C10Y|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000530681.1_Missense_Mutation_p.C10Y	p.C10Y	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	1	188	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.29G>A	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226024	0.39300	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.67171	-0.25;-0.25;1.9	3.88	2.97	0.34412	.	0.335360	0.28538	N	0.014993	T	0.67998	0.2953	L	0.32530	0.975	0.09310	N	1	D;D	0.71674	0.998;0.989	D;P	0.63488	0.915;0.768	T	0.57843	-0.7741	10	0.62326	D	0.03	-2.2776	9.2003	0.37254	0.0:0.8944:0.0:0.1056	.	10;10	B4DHN8;Q9BY79	.;MFRP_HUMAN	Y	10	ENSP00000450509:C10Y;ENSP00000391664:C10Y;ENSP00000353291:C10Y	ENSP00000353291:C10Y	C	-	2	0	MFRP	118722405	0.459000	0.25768	0.100000	0.21137	0.979000	0.70002	1.750000	0.38329	1.204000	0.43247	0.655000	0.94253	TGC		0.562	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		21	47	0	0	0	1	0	21	47				
PCDHA3	56145	broad.mit.edu	37	5	140182645	140182645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182645G>A	ENST00000522353.2	+	1	1863	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.P621P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P621P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCATCCCGTTTCGCGTGG	0.667																																						ENST00000522353.2																			2	Substitution - coding silent(2)	p.P621P(2)	lung(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1861-1863)ccG>ccA									76.0	76.0	76.0					5																	140182645		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140182645G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1863G>A	5.37:g.140182645G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.P621P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	p.P621P	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1863	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1863G>A	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	54	0	0	0	1	0	5	54				
RBBP6	5930	broad.mit.edu	37	16	24580425	24580425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24580425C>A	ENST00000319715.4	+	17	2846	c.2414C>A	c.(2413-2415)cCa>cAa	p.P805Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.P771Q|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	805					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCCACCACCATATGACATG	0.393																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(2413-2415)cCa>cAa		retinoblastoma binding protein 6							51.0	53.0	52.0					16																	24580425		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24580425C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2414C>A	16.37:g.24580425C>A	ENSP00000317872:p.Pro805Gln					RBBP6_ENST00000348022.2_Missense_Mutation_p.P771Q|RBBP6_ENST00000381039.3_Intron	p.P805Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	2846	+			805					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.2414C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963012	0.53507	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.20069	2.2;2.1	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000021	T	0.32852	0.0843	L	0.29908	0.895	0.43183	D	0.995001	D;D	0.89917	1.0;0.999	D;P	0.70716	0.97;0.889	T	0.01212	-1.1417	10	0.36615	T	0.2	-16.4724	14.2175	0.65802	0.0:0.9291:0.0:0.0709	.	771;805	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	Q	805;771	ENSP00000317872:P805Q;ENSP00000316291:P771Q	ENSP00000317872:P805Q	P	+	2	0	RBBP6	24487926	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	5.597000	0.67577	2.734000	0.93682	0.655000	0.94253	CCA		0.393	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		4	71	1	0	0.00909568	1	0.00947522	4	71				
NDUFV1	4723	broad.mit.edu	37	11	67376950	67376950	+	Silent	SNP	C	C	T	rs199702939	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67376950C>T	ENST00000322776.6	+	4	507	c.354C>T	c.(352-354)gaC>gaT	p.D118D	RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000529927.1_Silent_p.D109D|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_Silent_p.D17D|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000415352.2_Silent_p.D111D	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	118					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						TGAACGCAGACGAGGGGGAGC	0.657													C|||	4	0.000798722	0.003	0.0	5008	,	,		18021	0.0		0.0	False		,,,				2504	0.0					ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(352-354)gaC>gaT		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)	C	,	2,4398	4.2+/-10.8	0,2,2198	56.0	70.0	65.0		327,354	-8.3	0.3	11		65	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	NDUFV1	NM_001166102.1,NM_007103.3	,	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	,	109/456,118/465	67376950	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67376950C>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.354C>T	11.37:g.67376950C>T						NDUFV1_ENST00000532303.1_Silent_p.D17D|NDUFV1_ENST00000415352.2_Silent_p.D111D|NDUFV1_ENST00000529927.1_Silent_p.D109D|NDUFV1_ENST00000526169.1_3'UTR	p.D118D	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			4	507	+			118					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Silent	SNP	ENST00000322776.6	37	c.354C>T	CCDS8173.1																																																																																				0.657	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		49	82	0	0	0	1	0	49	82				
CHST9	83539	broad.mit.edu	37	18	24497012	24497012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24497012G>A	ENST00000284224.8	-	6	820	c.543C>T	c.(541-543)ttC>ttT	p.F181F	AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Silent_p.F181F|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	181					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ACTCCTGAAGGAAAGACCTTC	0.373																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(541-543)ttC>ttT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							127.0	120.0	122.0					18																	24497012		1846	4088	5934	SO:0001819	synonymous_variant	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24497012G>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.543C>T	18.37:g.24497012G>A						AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.F181F|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.F181F	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	820	-	all_lung(6;0.0145)|Ovarian(20;0.124)		181					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.543C>T	CCDS42422.1																																																																																				0.373	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		42	88	0	0	0	1	0	42	88				
ETFA	2108	broad.mit.edu	37	15	76580230	76580230	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76580230A>G	ENST00000557943.1	-	5	488	c.408T>C	c.(406-408)atT>atC	p.I136I	ETFA_ENST00000559602.1_Silent_p.I32I|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000560816.1_5'Flank|ETFA_ENST00000433983.2_Silent_p.I87I	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	136	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ACTTGATTGCAATGATGTCAG	0.363																																						ENST00000557943.1																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(406-408)atT>atC		electron-transfer-flavoprotein, alpha polypeptide							116.0	101.0	106.0					15																	76580230		2197	4294	6491	SO:0001819	synonymous_variant	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76580230A>G	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.408T>C	15.37:g.76580230A>G						ETFA_ENST00000433983.2_Silent_p.I87I|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Silent_p.I32I	p.I136I	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN			5	488	-			136					B4DT43|Q53XN3	Silent	SNP	ENST00000557943.1	37	c.408T>C	CCDS32299.1																																																																																				0.363	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		21	39	0	0	0	1	0	21	39				
PCDHAC2	56134	broad.mit.edu	37	5	140347359	140347359	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347359G>T	ENST00000289269.5	+	1	1540	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	336	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGTGCAGGCGACTGACC	0.592																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1006-1008)caG>caT									52.0	50.0	51.0					5																	140347359		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347359G>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1008G>T	5.37:g.140347359G>T	ENSP00000289269:p.Gln336His					PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.Q336H	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1540	+			336			Cadherin 3.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1008G>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463597	0.43736	.	.	ENSG00000243232	ENST00000289269	T	0.61040	0.14	5.87	4.53	0.55603	Cadherin (5);Cadherin-like (1);	0.000000	0.39834	N	0.001242	T	0.69088	0.3072	M	0.62723	1.935	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	T	0.69778	-0.5053	10	0.87932	D	0	.	6.5738	0.22553	0.3831:0.0:0.6169:0.0	.	336;336	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	336	ENSP00000289269:Q336H	ENSP00000289269:Q336H	Q	+	3	2	PCDHAC2	140327543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	0.995000	0.38917	0.655000	0.94253	CAG		0.592	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		4	20	1	0	1.23904e-05	1	1.39987e-05	4	20				
DAPK1	1612	broad.mit.edu	37	9	90272950	90272950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90272950C>T	ENST00000408954.3	+	18	2166	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R611*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R611*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R611*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R611*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	611					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGTATGGGCGAACGCCTCT	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1831-1833)Cga>Tga		death-associated protein kinase 1							47.0	52.0	51.0					9																	90272950		2080	4212	6292	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90272950C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1831C>T	9.37:g.90272950C>T	ENSP00000386135:p.Arg611*					DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R611*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R611*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R611*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R611*	p.R611*			P53355	DAPK1_HUMAN			18	2206	+			611					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.1831C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	39	7.455692	0.98296	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	4.54	3.61	0.41365	.	0.000000	0.40818	N	0.001010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6239	0.56618	0.2983:0.7017:0.0:0.0	.	.	.	.	X	611	.	ENSP00000350785:R611X	R	+	1	2	DAPK1	89462770	0.963000	0.33076	0.234000	0.24042	0.383000	0.30230	2.236000	0.43052	1.225000	0.43566	0.655000	0.94253	CGA		0.567	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		9	5	0	0	0	1	0	9	5				
GNPTG	84572	broad.mit.edu	37	16	1411752	1411752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1411752C>T	ENST00000204679.4	+	4	230	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	63					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGGACCCGTGCATCTCTTCCG	0.602																																						ENST00000204679.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(187-189)Cat>Tat		N-acetylglucosamine-1-phosphate transferase, gamma subunit							76.0	61.0	66.0					16																	1411752		2199	4300	6499	SO:0001583	missense	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1411752C>T	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.187C>T	16.37:g.1411752C>T	ENSP00000204679:p.His63Tyr						p.H63Y	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN			4	230	+		Hepatocellular(780;0.0893)	63					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.187C>T	CCDS10436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.955201|3.955201	0.73902|0.73902	.|.	.|.	ENSG00000090581|ENSG00000090581	ENST00000529110|ENST00000204679	.|T	.|0.76578	.|-1.03	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.336709	.|0.29616	.|N	.|0.011654	D|D	0.88451|0.88451	0.6440|0.6440	M|M	0.85630|0.85630	2.765|2.765	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.76071	.|0.987	D|D	0.88703|0.88703	0.3217|0.3217	5|10	.|0.44086	.|T	.|0.13	-23.3713|-23.3713	15.2897|15.2897	0.73857|0.73857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|63	.|Q9UJJ9	.|GNPTG_HUMAN	V|Y	85|63	.|ENSP00000204679:H63Y	.|ENSP00000204679:H63Y	A|H	+|+	2|1	0|0	GNPTG|GNPTG	1351753|1351753	1.000000|1.000000	0.71417|0.71417	0.008000|0.008000	0.14137|0.14137	0.002000|0.002000	0.02628|0.02628	6.435000|6.435000	0.73412|0.73412	2.475000|2.475000	0.83589|0.83589	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.602	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		16	15	0	0	0	1	0	16	15				
CMA1	1215	broad.mit.edu	37	14	24976590	24976590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24976590C>T	ENST00000250378.3	-	2	210	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	61	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCCGTCAGCACAAAGTTCCGT	0.478																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(181-183)Gtg>Atg		chymase 1, mast cell							137.0	131.0	133.0					14																	24976590		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976590C>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.181G>A	14.37:g.24976590C>T	ENSP00000250378:p.Val61Met					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	p.V61M	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	210	-			61			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.181G>A	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808842	0.70797	.	.	ENSG00000092009	ENST00000250378	T	0.74209	-0.82	5.01	5.01	0.66863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46758	D	0.000267	D	0.87787	0.6265	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	P	0.59288	0.855	D	0.90516	0.4485	10	0.72032	D	0.01	.	14.0034	0.64446	0.0:1.0:0.0:0.0	.	61	P23946	CMA1_HUMAN	M	61	ENSP00000250378:V61M	ENSP00000250378:V61M	V	-	1	0	CMA1	24046430	0.994000	0.37717	0.989000	0.46669	0.787000	0.44495	3.959000	0.56744	2.766000	0.95052	0.655000	0.94253	GTG		0.478	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			57	100	0	0	0	1	0	57	100				
PDZD3	79849	broad.mit.edu	37	11	119057160	119057160	+	Missense_Mutation	SNP	C	C	T	rs568444563		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119057160C>T	ENST00000531114.1	+	2	838	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L97F|PDZD3_ENST00000355547.5_Intron			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	97					cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTCCTCCCCCTTTTCTGCTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19494	0.001		0.0	False		,,,				2504	0.0					ENST00000531114.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(289-291)Ctt>Ttt		PDZ domain containing 3							46.0	45.0	45.0					11																	119057160		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119057160C>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.289C>T	11.37:g.119057160C>T	ENSP00000431164:p.Leu97Phe					PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L97F	p.L97F			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	2	838	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	97					Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.289C>T		.	.	.	.	.	.	.	.	.	.	C	19.71	3.878047	0.72294	.	.	ENSG00000172367	ENST00000531114;ENST00000392817	T;T	0.35236	1.32;1.32	4.67	-0.916	0.10489	PDZ/DHR/GLGF (1);	0.773311	0.10283	U	0.693300	T	0.22360	0.0539	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22487	-1.0215	9	0.46703	T	0.11	.	4.6861	0.12758	0.1401:0.5253:0.0:0.3346	.	97	Q86UT5	NHRF4_HUMAN	F	97	ENSP00000431164:L97F;ENSP00000376564:L97F	ENSP00000376564:L97F	L	+	1	0	PDZD3	118562370	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	-1.047000	0.03521	-0.067000	0.12976	0.467000	0.42956	CTT		0.602	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		16	30	0	0	0	1	0	16	30				
GRM8	2918	broad.mit.edu	37	7	126173165	126173165	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173165G>T	ENST00000339582.2	-	9	3079	c.2271C>A	c.(2269-2271)atC>atA	p.I757I	GRM8_ENST00000444921.2_Silent_p.I757I|GRM8_ENST00000358373.3_Silent_p.I757I|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCATCAAGAGGATACTGTATC	0.443										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2269-2271)atC>atA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						130.0	112.0	118.0					7																	126173165		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173165G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2271C>A	7.37:g.126173165G>T		HNSCC(24;0.065)				GRM8_ENST00000444921.2_Silent_p.I757I|GRM8_ENST00000358373.3_Silent_p.I757I|GRM8_ENST00000480995.1_5'UTR	p.I757I			O00222	GRM8_HUMAN			9	3079	-		Prostate(267;0.186)	757					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2271C>A	CCDS5794.1																																																																																				0.443	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			12	29	1	0	1.08611e-07	1	1.2824e-07	12	29				
ZBED1	9189	broad.mit.edu	37	X	2406829	2406829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2406829C>A	ENST00000381223.4	-	2	2135	c.1932G>T	c.(1930-1932)caG>caT	p.Q644H	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q644H|ZBED1_ENST00000381218.3_Missense_Mutation_p.Q644H|ZBED1_ENST00000515319.1_5'UTR	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	644					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACAGAAACACCTGCTCGTCCA	0.682																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1930-1932)caG>caT		zinc finger, BED-type containing 1							105.0	110.0	108.0					X																	2406829		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406829C>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1932G>T	X.37:g.2406829C>A	ENSP00000370621:p.Gln644His					ZBED1_ENST00000381222.2_Missense_Mutation_p.Q644H|DHRSX_ENST00000334651.5_Intron|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.Q644H	p.Q644H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2135	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	644					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1932G>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690210	0.29962	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.21543	2.0;2.0;2.0	3.06	1.82	0.25136	HAT dimerisation (1);Ribonuclease H-like (1);	0.097934	0.40640	U	0.001048	T	0.40196	0.1107	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.83275	0.996	T	0.05022	-1.0911	9	0.87932	D	0	.	8.7797	0.34785	0.0:0.7545:0.0:0.2455	.	644	O96006	ZBED1_HUMAN	H	644	ENSP00000370621:Q644H;ENSP00000370620:Q644H;ENSP00000370616:Q644H	ENSP00000370616:Q644H	Q	-	3	2	ZBED1	2416829	0.995000	0.38212	0.745000	0.31077	0.298000	0.27526	1.278000	0.33179	1.155000	0.42497	0.519000	0.50382	CAG		0.682	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		25	89	1	0	6.32553e-13	1	7.99037e-13	25	89				
METTL2B	55798	broad.mit.edu	37	7	128119311	128119311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119311C>A	ENST00000262432.8	+	3	339	c.302C>A	c.(301-303)cCt>cAt	p.P101H	METTL2B_ENST00000480046.1_Missense_Mutation_p.P36H|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	101					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCGAATTCCCTGAGCTGGCA	0.393																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(106-108)cCt>cAt		methyltransferase like 2B							60.0	61.0	60.0					7																	128119311		2203	4299	6502	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119311C>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.302C>A	7.37:g.128119311C>A	ENSP00000262432:p.Pro101His					METTL2B_ENST00000262432.8_Missense_Mutation_p.P101H	p.P36H			Q6P1Q9	MTL2B_HUMAN			2	222	+			101					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.107C>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237833	0.58886	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.04049	3.72;3.72;3.72	2.86	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.88570	2.965	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06445	-1.0826	10	0.87932	D	0	-4.3478	11.5557	0.50745	0.0:1.0:0.0:0.0	.	36;101	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	H	95;101;36	ENSP00000418634:P95H;ENSP00000262432:P101H;ENSP00000418402:P36H	ENSP00000262432:P101H	P	+	2	0	METTL2B	127906547	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	7.489000	0.81451	1.609000	0.50190	0.405000	0.27470	CCT		0.393	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		9	80	1	0	7.48243e-07	1	8.70085e-07	9	80				
GUCY2F	2986	broad.mit.edu	37	X	108708437	108708437	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108708437G>T	ENST00000218006.2	-	3	1257	c.966C>A	c.(964-966)acC>acA	p.T322T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	322					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTGATAGAAGGTCTTTTCTT	0.483																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(964-966)acC>acA		guanylate cyclase 2F, retinal							161.0	137.0	145.0					X																	108708437		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108708437G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.966C>A	X.37:g.108708437G>T							p.T322T	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			3	1257	-			322					Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.966C>A	CCDS14545.1																																																																																				0.483	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		9	162	1	0	2.74318e-10	1	3.37541e-10	9	162				
CCDC82	79780	broad.mit.edu	37	11	96092318	96092318	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96092318C>T	ENST00000278520.5	-	8	1833	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	CCDC82_ENST00000423339.2_Missense_Mutation_p.A469T|CCDC82_ENST00000542662.1_Missense_Mutation_p.A469T			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	469										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTACGGCTGGCACAAATTCTG	0.328																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1405-1407)Gcc>Acc		coiled-coil domain containing 82							69.0	69.0	69.0					11																	96092318		2201	4298	6499	SO:0001583	missense	79780						protein binding	g.chr11:96092318C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1405G>A	11.37:g.96092318C>T	ENSP00000278520:p.Ala469Thr					CCDC82_ENST00000542662.1_Missense_Mutation_p.A469T|CCDC82_ENST00000423339.2_Missense_Mutation_p.A469T	p.A469T			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	8	1833	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	469					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1405G>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046904	0.75846	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.30448	1.53;1.53;1.53	5.78	5.78	0.91487	.	0.060360	0.64402	D	0.000005	T	0.35740	0.0942	M	0.66939	2.045	0.49130	D	0.999757	P	0.38992	0.653	B	0.36289	0.221	T	0.08351	-1.0726	10	0.32370	T	0.25	-14.1026	19.1372	0.93433	0.0:1.0:0.0:0.0	.	469	Q8N4S0	CCD82_HUMAN	T	469	ENSP00000278520:A469T;ENSP00000444010:A469T;ENSP00000397156:A469T	ENSP00000278520:A469T	A	-	1	0	CCDC82	95731966	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	4.890000	0.63178	2.894000	0.99253	0.655000	0.94253	GCC		0.328	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		12	31	0	0	0	1	0	12	31				
NAA16	79612	broad.mit.edu	37	13	41897203	41897203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41897203C>T	ENST00000379406.3	+	5	738	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAA16_ENST00000403412.3_Silent_p.Y138Y|NAA16_ENST00000379367.3_Silent_p.Y138Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	138					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGACAAGATACCAGCTTCTTC	0.353																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(412-414)taC>taT		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							124.0	123.0	124.0					13																	41897203		2203	4300	6503	SO:0001819	synonymous_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41897203C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.414C>T	13.37:g.41897203C>T						NAA16_ENST00000379367.3_Silent_p.Y138Y|NAA16_ENST00000403412.3_Silent_p.Y138Y	p.Y138Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			5	738	+			138					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	c.414C>T	CCDS9379.1																																																																																				0.353	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		36	69	0	0	0	1	0	36	69				
PDE6C	5146	broad.mit.edu	37	10	95399908	95399908	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95399908A>C	ENST00000371447.3	+	12	1702	c.1564A>C	c.(1564-1566)Att>Ctt	p.I522L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	522					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GCACGGATTGATTAAATGTGG	0.408																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1564-1566)Att>Ctt		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							122.0	115.0	118.0					10																	95399908		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95399908A>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1564A>C	10.37:g.95399908A>C	ENSP00000360502:p.Ile522Leu						p.I522L	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			12	1702	+		Colorectal(252;0.123)	522					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1564A>C	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	A	7.178	0.588977	0.13812	.	.	ENSG00000095464	ENST00000371447	T	0.76186	-1.0	4.99	0.913	0.19354	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.229059	0.47852	D	0.000203	T	0.59905	0.2228	L	0.49778	1.585	0.44685	D	0.99767	B	0.31989	0.35	B	0.26614	0.071	T	0.46148	-0.9212	10	0.17369	T	0.5	.	8.0648	0.30654	0.7124:0.0:0.2876:0.0	.	522	P51160	PDE6C_HUMAN	L	522	ENSP00000360502:I522L	ENSP00000360502:I522L	I	+	1	0	PDE6C	95389898	1.000000	0.71417	0.880000	0.34516	0.176000	0.22953	3.334000	0.52097	0.000000	0.14550	0.460000	0.39030	ATT		0.408	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		52	71	0	0	0	1	0	52	71				
MFI2	4241	broad.mit.edu	37	3	196751283	196751283	+	Silent	SNP	G	G	A	rs201448107		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196751283G>A	ENST00000296350.5	-	4	491	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MFI2_ENST00000296351.4_Silent_p.G126G	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	126	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGGACTTCACGCCTTTCAGGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16231	0.0		0.001	False		,,,				2504	0.0					ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(376-378)ggC>ggT		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5		G	,	0,4406		0,0,2203	78.0	70.0	73.0		378,378	-10.5	0.1	3		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MFI2	NM_005929.5,NM_033316.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	126/739,126/303	196751283	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196751283G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.378C>T	3.37:g.196751283G>A						MFI2_ENST00000296351.4_Silent_p.G126G	p.G126G	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	4	491	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		126			Transferrin-like 1.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.378C>T	CCDS3325.1																																																																																				0.637	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			18	40	0	0	0	1	0	18	40				
KCNJ14	3770	broad.mit.edu	37	19	48967961	48967961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48967961G>A	ENST00000391884.1	+	2	1714	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|KCNJ14_ENST00000342291.2_Missense_Mutation_p.G413E|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000593476.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	413					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GAAGGGAATGGGGTGGAAACA	0.552																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(1237-1239)gGg>gAg		potassium inwardly-rectifying channel, subfamily J, member 14							67.0	68.0	67.0					19																	48967961		2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967961G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1238G>A	19.37:g.48967961G>A	ENSP00000375756:p.Gly413Glu					KCNJ14_ENST00000342291.2_Missense_Mutation_p.G413E	p.G413E			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	1714	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	413						Missense_Mutation	SNP	ENST00000391884.1	37	c.1238G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612841	0.14066	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.87966	-2.32;-2.32	4.59	-3.78	0.04333	.	1.087230	0.07155	N	0.849664	T	0.64918	0.2642	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51593	-0.8686	10	0.27785	T	0.31	.	1.6689	0.02808	0.2642:0.2646:0.3518:0.1195	.	413	Q9UNX9	IRK14_HUMAN	E	413	ENSP00000341479:G413E;ENSP00000375756:G413E	ENSP00000341479:G413E	G	+	2	0	KCNJ14	53659773	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	0.051000	0.14141	-0.478000	0.06823	0.655000	0.94253	GGG		0.552	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		27	43	0	0	0	1	0	27	43				
CYP27C1	339761	broad.mit.edu	37	2	127944866	127944866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944866C>T	ENST00000335247.7	-	8	1230	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R367Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	367						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTAACAAATCGCACGTGGAT	0.493																																						ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.(1099-1101)cGa>cAa		cytochrome P450, family 27, subfamily C, polypeptide 1							76.0	81.0	79.0					2																	127944866		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127944866C>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.1100G>A	2.37:g.127944866C>T	ENSP00000334128:p.Arg367Gln					CYP27C1_ENST00000409327.1_Missense_Mutation_p.R367Q	p.R367Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	8	1230	-	Colorectal(110;0.1)		367					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.1100G>A	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.526681	0.00959	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.47528	0.84;0.84	4.67	2.81	0.32909	.	0.243580	0.33144	N	0.005229	T	0.30166	0.0756	L	0.38175	1.15	0.09310	N	1	B	0.17852	0.024	B	0.17722	0.019	T	0.18871	-1.0323	10	0.08599	T	0.76	-0.6265	6.9496	0.24538	0.0:0.6948:0.1504:0.1548	.	367	Q4G0S4	C27C1_HUMAN	Q	367	ENSP00000334128:R367Q;ENSP00000387198:R367Q	ENSP00000334128:R367Q	R	-	2	0	CYP27C1	127661336	0.335000	0.24748	0.002000	0.10522	0.001000	0.01503	0.453000	0.21811	0.927000	0.37143	0.655000	0.94253	CGA		0.493	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		33	37	0	0	0	1	0	33	37				
LMTK2	22853	broad.mit.edu	37	7	97833470	97833470	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97833470C>A	ENST00000297293.5	+	13	4748	c.4455C>A	c.(4453-4455)caC>caA	p.H1485Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1485				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCACACACCTGACCGACT	0.682																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4453-4455)caC>caA		lemur tyrosine kinase 2							62.0	66.0	65.0					7																	97833470		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97833470C>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4455C>A	7.37:g.97833470C>A	ENSP00000297293:p.His1485Gln						p.H1485Q	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			13	4748	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1485	Missing (in Ref. 2; BAA83031).				A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.4455C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832266	0.71258	.	.	ENSG00000164715	ENST00000297293	D	0.84800	-1.9	5.32	-2.7	0.06004	.	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	M	0.77486	2.375	0.48975	D	0.999739	D	0.89917	1.0	D	0.85130	0.997	D	0.88508	0.3087	10	0.87932	D	0	.	11.814	0.52199	0.0:0.2567:0.0:0.7433	.	1485	Q8IWU2	LMTK2_HUMAN	Q	1485	ENSP00000297293:H1485Q	ENSP00000297293:H1485Q	H	+	3	2	LMTK2	97671406	0.808000	0.29022	0.911000	0.35937	0.958000	0.62258	-0.079000	0.11357	-0.394000	0.07727	-0.343000	0.07986	CAC		0.682	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		49	45	1	0	1.51926e-22	1	2.00588e-22	49	45				
CELSR2	1952	broad.mit.edu	37	1	109795063	109795063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795063C>T	ENST00000271332.3	+	1	2423	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	788	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATTACTGCTCGGGACAATGG	0.572																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2362-2364)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							89.0	74.0	79.0					1																	109795063		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795063C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2362C>T	1.37:g.109795063C>T	ENSP00000271332:p.Arg788Trp						p.R788W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2423	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	788			Cadherin 6.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2362C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	15.45	2.836274	0.50951	.	.	ENSG00000143126	ENST00000271332	T	0.01804	4.63	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	M	0.62154	1.92	0.42839	D	0.994049	D	0.89917	1.0	D	0.79784	0.993	T	0.21280	-1.0250	9	0.66056	D	0.02	.	12.6121	0.56556	0.2849:0.7151:0.0:0.0	.	788	Q9HCU4	CELR2_HUMAN	W	788	ENSP00000271332:R788W	ENSP00000271332:R788W	R	+	1	2	CELSR2	109596586	0.344000	0.24827	0.998000	0.56505	0.976000	0.68499	1.320000	0.33666	2.589000	0.87451	0.555000	0.69702	CGG		0.572	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		24	38	0	0	0	1	0	24	38				
LMBRD2	92255	broad.mit.edu	37	5	36137525	36137525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36137525C>T	ENST00000296603.4	-	5	849	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	129						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATGACTGCATAAAAGGTA	0.328																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)atG>atA		LMBR1 domain containing 2							65.0	65.0	65.0					5																	36137525		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36137525C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.387G>A	5.37:g.36137525C>T	ENSP00000296603:p.Met129Ile						p.M129I	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	849	-	all_lung(31;0.000146)		129					B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.387G>A	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942163	0.92526	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.29397	1.57	5.73	5.73	0.89815	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.82716	2.605	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.56811	-0.7917	10	0.31617	T	0.26	-17.4195	19.8961	0.96958	0.0:1.0:0.0:0.0	.	129	Q68DH5	LMBD2_HUMAN	I	129;23	ENSP00000296603:M129I	ENSP00000296603:M129I	M	-	3	0	LMBRD2	36173282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.224000	0.78042	2.699000	0.92147	0.655000	0.94253	ATG		0.328	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		16	37	0	0	0	1	0	16	37				
CAMTA1	23261	broad.mit.edu	37	1	7811353	7811353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7811353G>A	ENST00000303635.7	+	20	4991	c.4784G>A	c.(4783-4785)cGg>cAg	p.R1595Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1581Q|CAMTA1_ENST00000476864.1_Missense_Mutation_p.R159Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1595	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGAGCCGACGGGCTGCTGTG	0.463			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4783-4785)cGg>cAg		calmodulin binding transcription activator 1							112.0	127.0	122.0					1																	7811353		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811353G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4784G>A	1.37:g.7811353G>A	ENSP00000306522:p.Arg1595Gln					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1581Q|CAMTA1_ENST00000476864.1_Missense_Mutation_p.R159Q	p.R1595Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	20	4991	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1595			IQ 2.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4784G>A	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.231911|5.231911	0.95207|0.95207	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000495233;ENST00000490905|ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	.|T;T;T	.|0.72394	.|-0.65;-0.65;1.55	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.047294	.|0.85682	.|D	.|0.000000	T|T	0.80099|0.80099	0.4561|0.4561	L|L	0.42487|0.42487	1.325|1.325	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.91635	.|0.994;0.999;0.999	T|T	0.75077|0.75077	-0.3445|-0.3445	5|10	.|0.27082	.|T	.|0.32	-15.9027|-15.9027	19.9857|19.9857	0.97347|0.97347	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|638;558;1595	.|B4DXR3;Q7Z7P1;Q9Y6Y1	.|.;.;CMTA1_HUMAN	R|Q	559;161|1595;1581;638;558;159	.|ENSP00000306522:R1595Q;ENSP00000402561:R1581Q;ENSP00000452319:R159Q	.|ENSP00000306522:R1595Q	G|R	+|+	1|2	0|0	CAMTA1|CAMTA1	7733940|7733940	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.986000|0.986000	0.74619|0.74619	7.984000|7.984000	0.88150|0.88150	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.463	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		17	197	0	0	0	1	0	17	197				
EIF4E	1977	broad.mit.edu	37	4	99812406	99812406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99812406G>T	ENST00000450253.2	-	3	1727	c.203C>A	c.(202-204)aCt>aAt	p.T68N	EIF4E_ENST00000280892.6_Missense_Mutation_p.T88N|EIF4E_ENST00000505992.1_Missense_Mutation_p.T68N|EIF4E_ENST00000504432.1_Missense_Mutation_p.T96N	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	68					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GTCTTCAACAGTATCAAACTT	0.318																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(202-204)aCt>aAt		eukaryotic translation initiation factor 4E							82.0	82.0	82.0					4																	99812406		2203	4300	6503	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99812406G>T	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.203C>A	4.37:g.99812406G>T	ENSP00000389624:p.Thr68Asn					EIF4E_ENST00000505992.1_Missense_Mutation_p.T68N|EIF4E_ENST00000504432.1_Missense_Mutation_p.T96N|EIF4E_ENST00000280892.6_Missense_Mutation_p.T88N	p.T68N	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	3	1727	-			68					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.203C>A	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.777453|4.777453	0.90195|0.90195	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992|ENST00000511644	T;T;T;T|.	0.58652|.	0.32;0.32;0.32;0.63|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Translation Initiation factor eIF- 4e-like  domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86276|.	0.5894|.	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.49862|.	0.477;0.929;0.726;0.587|.	P;P;P;P|.	0.53861|.	0.67;0.692;0.736;0.579|.	D|.	0.88611|.	0.3156|.	10|.	0.87932|.	D|.	0|.	-16.6614|-16.6614	19.5019|19.5019	0.95098|0.95098	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	68;68;88;68|.	B7Z2T1;P06730-2;B7Z6V1;P06730|.	.;.;.;IF4E_HUMAN|.	N|X	68;88;96;68|64	ENSP00000389624:T68N;ENSP00000280892:T88N;ENSP00000423977:T96N;ENSP00000425561:T68N|.	ENSP00000280892:T88N|.	T|Y	-|-	2|3	0|2	EIF4E|EIF4E	100031429|100031429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.527000|9.527000	0.98044|0.98044	2.682000|2.682000	0.91365|0.91365	0.557000|0.557000	0.71058|0.71058	ACT|TAC		0.318	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		23	31	1	0	1.77063e-15	1	2.27219e-15	23	31				
CADPS	8618	broad.mit.edu	37	3	62385245	62385245	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385245A>G	ENST00000383710.4	-	30	4247	c.3898T>C	c.(3898-3900)Ttc>Ctc	p.F1300L	CADPS_ENST00000357948.3_Missense_Mutation_p.F1221L|CADPS_ENST00000283269.9_Missense_Mutation_p.F1261L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1300	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAATCGGAAATCTCTGTAG	0.488																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3898-3900)Ttc>Ctc		Ca++-dependent secretion activator							101.0	97.0	98.0					3																	62385245		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62385245A>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3898T>C	3.37:g.62385245A>G	ENSP00000373215:p.Phe1300Leu					CADPS_ENST00000283269.9_Missense_Mutation_p.F1261L|CADPS_ENST00000357948.3_Missense_Mutation_p.F1221L	p.F1300L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	30	4247	-		Lung SC(41;0.0452)	1300			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3898T>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.783764	0.70222	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.30981	1.51;1.51;1.51	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.76002	2.32	0.80722	D	1	B;D;D;P	0.58268	0.327;0.982;0.982;0.529	B;D;D;B	0.68943	0.248;0.961;0.952;0.311	T	0.59679	-0.7409	10	0.72032	D	0.01	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1221;1261;1300;1305	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	L	1306;1300;1221;1261	ENSP00000373215:F1300L;ENSP00000350632:F1221L;ENSP00000283269:F1261L	ENSP00000283269:F1261L	F	-	1	0	CADPS	62360285	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	TTC		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		32	45	0	0	0	1	0	32	45				
OTOA	146183	broad.mit.edu	37	16	21726405	21726405	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21726405C>A	ENST00000286149.4	+	13	1463	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	OTOA_ENST00000388956.4_Missense_Mutation_p.L395M|OTOA_ENST00000388957.3_Missense_Mutation_p.L150M|OTOA_ENST00000388958.3_Missense_Mutation_p.L474M			Q7RTW8	OTOAN_HUMAN	otoancorin	488					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGCAGGTCCTGAGAAGTGC	0.567																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1420-1422)Ctg>Atg		otoancorin							232.0	209.0	217.0					16																	21726405		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726405C>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1462C>A	16.37:g.21726405C>A	ENSP00000286149:p.Leu488Met					OTOA_ENST00000286149.4_Missense_Mutation_p.L488M|OTOA_ENST00000388956.4_Missense_Mutation_p.L395M|OTOA_ENST00000388957.3_Missense_Mutation_p.L150M	p.L474M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	13	1421	+			488					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1420C>A		.	.	.	.	.	.	.	.	.	.	C	11.08	1.534335	0.27475	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.66	2.27	0.28462	.	0.452281	0.20985	N	0.082157	T	0.67859	0.2938	L	0.53249	1.67	0.26964	N	0.965748	B;B;P;B	0.40083	0.251;0.251;0.702;0.158	B;B;B;B	0.34385	0.139;0.139;0.181;0.139	T	0.63976	-0.6515	10	0.54805	T	0.06	-5.1284	9.1549	0.36988	0.2503:0.5618:0.1879:0.0	.	488;395;150;474	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	M	474;488;395;150	ENSP00000373610:L474M;ENSP00000286149:L488M;ENSP00000373608:L395M;ENSP00000373609:L150M	ENSP00000286149:L488M	L	+	1	2	OTOA	21633906	0.433000	0.25562	0.989000	0.46669	0.515000	0.34225	0.820000	0.27323	1.368000	0.46115	0.655000	0.94253	CTG		0.567	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			14	224	1	0	0.000151284	1	0.000166931	14	224				
LIPG	9388	broad.mit.edu	37	18	47107794	47107794	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47107794A>G	ENST00000261292.4	+	6	1081	c.803A>G	c.(802-804)gAg>gGg	p.E268G	LIPG_ENST00000427224.2_Missense_Mutation_p.E194G|LIPG_ENST00000580036.1_Missense_Mutation_p.E268G|LIPG_ENST00000577628.1_Missense_Mutation_p.E304G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	268					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCAATCACAGAGGTGGTAAAA	0.463																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(802-804)gAg>gGg		lipase, endothelial							82.0	80.0	81.0					18																	47107794		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47107794A>G	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.803A>G	18.37:g.47107794A>G	ENSP00000261292:p.Glu268Gly					LIPG_ENST00000427224.2_Missense_Mutation_p.E194G|LIPG_ENST00000580036.1_Missense_Mutation_p.E268G|LIPG_ENST00000577628.1_Missense_Mutation_p.E304G	p.E268G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			6	1081	+			268					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.803A>G	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199647	0.79015	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90504	-2.68;-2.68	5.49	5.49	0.81192	Lipase, N-terminal (1);	0.420374	0.29760	N	0.011272	D	0.92711	0.7683	L	0.46157	1.445	0.58432	D	0.999991	D;P;P	0.59767	0.986;0.923;0.905	P;P;P	0.61070	0.883;0.811;0.487	D	0.93512	0.6854	10	0.87932	D	0	-11.8462	15.8713	0.79122	1.0:0.0:0.0:0.0	.	194;268;268	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	G	268;194	ENSP00000261292:E268G;ENSP00000387978:E194G	ENSP00000261292:E268G	E	+	2	0	LIPG	45361792	1.000000	0.71417	0.436000	0.26797	0.750000	0.42670	7.280000	0.78610	2.212000	0.71576	0.459000	0.35465	GAG		0.463	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		33	59	0	0	0	1	0	33	59				
NUP205	23165	broad.mit.edu	37	7	135304414	135304414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135304414C>T	ENST00000285968.6	+	29	4233	c.4207C>T	c.(4207-4209)Ctg>Ttg	p.L1403L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1403					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTGAAGAAACTGTTAGACTT	0.303																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4207-4209)Ctg>Ttg		nucleoporin 205kDa							50.0	53.0	52.0					7																	135304414		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304414C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4207C>T	7.37:g.135304414C>T							p.L1403L	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			29	4233	+			1403					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.4207C>T	CCDS34759.1																																																																																				0.303	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			18	54	0	0	0	1	0	18	54				
ANK1	286	broad.mit.edu	37	8	41530127	41530127	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41530127T>G	ENST00000347528.4	-	38	4924	c.4841A>C	c.(4840-4842)gAg>gCg	p.E1614A	ANK1_ENST00000379758.2_Missense_Mutation_p.E1614A|ANK1_ENST00000352337.4_Missense_Mutation_p.E1614A|ANK1_ENST00000265709.8_Missense_Mutation_p.E1655A|ANK1_ENST00000396942.1_Missense_Mutation_p.E1614A|ANK1_ENST00000289734.7_Missense_Mutation_p.E1614A|ANK1_ENST00000396945.1_Missense_Mutation_p.E1614A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1614	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGAGCCCAACTCGGGGCCCCG	0.562																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4840-4842)gAg>gCg		ankyrin 1, erythrocytic							114.0	119.0	117.0					8																	41530127		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530127T>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4841A>C	8.37:g.41530127T>G	ENSP00000339620:p.Glu1614Ala					ANK1_ENST00000347528.4_Missense_Mutation_p.E1614A|ANK1_ENST00000379758.2_Missense_Mutation_p.E1614A|ANK1_ENST00000396945.1_Missense_Mutation_p.E1614A|ANK1_ENST00000352337.4_Missense_Mutation_p.E1614A|ANK1_ENST00000265709.8_Missense_Mutation_p.E1655A|ANK1_ENST00000289734.7_Missense_Mutation_p.E1614A	p.E1614A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4924	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1614			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4841A>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	8.190	0.795830	0.16327	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.24	1.83	0.25207	.	1.168650	0.05994	N	0.646503	T	0.19167	0.0460	N	0.22421	0.69	0.24914	N	0.992029	B;B;B;B	0.17667	0.023;0.0;0.0;0.0	B;B;B;B	0.20577	0.03;0.0;0.002;0.002	T	0.31392	-0.9945	10	0.10111	T	0.7	.	5.947	0.19223	0.2283:0.0:0.2017:0.5701	.	1655;1614;1614;1614	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	A	1614;1614;1614;1614;1614;1614;1655	ENSP00000339620:E1614A;ENSP00000289734:E1614A;ENSP00000369082:E1614A;ENSP00000380149:E1614A;ENSP00000380147:E1614A;ENSP00000309131:E1614A;ENSP00000265709:E1655A	ENSP00000265709:E1655A	E	-	2	0	ANK1	41649284	0.990000	0.36364	0.916000	0.36221	0.834000	0.47266	1.749000	0.38319	0.168000	0.19655	0.451000	0.29950	GAG		0.562	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		5	174	0	0	0	1	0	5	174				
CNGB3	54714	broad.mit.edu	37	8	87656038	87656038	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87656038C>A	ENST00000320005.5	-	10	1166	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	373					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTGAAGCCCAGTAATAAA	0.353																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80	GRCh37	CM050555	CNGB3	M		c.(1117-1119)tgG>tgT		cyclic nucleotide gated channel beta 3							132.0	125.0	127.0					8																	87656038		2203	4299	6502	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87656038C>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1119G>T	8.37:g.87656038C>A	ENSP00000316605:p.Trp373Cys						p.W373C	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			10	1166	-			373					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1119G>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512923	0.44660	.	.	ENSG00000170289	ENST00000320005	D	0.97455	-4.39	5.44	4.55	0.56014	.	0.069214	0.64402	D	0.000007	D	0.96849	0.8971	M	0.82323	2.585	0.80722	D	1	B;B	0.27498	0.18;0.12	B;B	0.34873	0.191;0.126	D	0.95974	0.8972	10	0.45353	T	0.12	.	14.1594	0.65436	0.2725:0.7275:0.0:0.0	.	373;373	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	C	373	ENSP00000316605:W373C	ENSP00000316605:W373C	W	-	3	0	CNGB3	87725154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.423000	0.52756	1.380000	0.46344	0.655000	0.94253	TGG		0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		12	91	1	0	6.40141e-05	1	7.11719e-05	12	91				
BCAS3	54828	broad.mit.edu	37	17	58952033	58952033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58952033G>A	ENST00000390652.5	+	9	626	c.595G>A	c.(595-597)Gta>Ata	p.V199I	BCAS3_ENST00000589222.1_Missense_Mutation_p.V199I|BCAS3_ENST00000408905.3_Missense_Mutation_p.V199I|BCAS3_ENST00000588462.1_Missense_Mutation_p.V199I|BCAS3_ENST00000407086.3_Missense_Mutation_p.V199I	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATCCTTGTCGTAGTCTTGCA	0.323																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(595-597)Gta>Ata		breast carcinoma amplified sequence 3							101.0	93.0	96.0					17																	58952033		1817	4079	5896	SO:0001583	missense	54828					nucleus		g.chr17:58952033G>A	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.595G>A	17.37:g.58952033G>A	ENSP00000375067:p.Val199Ile					BCAS3_ENST00000588462.1_Missense_Mutation_p.V199I|BCAS3_ENST00000390652.5_Missense_Mutation_p.V199I|BCAS3_ENST00000407086.3_Missense_Mutation_p.V199I|BCAS3_ENST00000408905.3_Missense_Mutation_p.V199I	p.V199I			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		9	663	+			199	VV -> II (in Ref. 2; BAB15156).					Missense_Mutation	SNP	ENST00000390652.5	37	c.595G>A	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722096	0.30503	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.56444	0.46;0.46;0.46	5.53	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.058182	0.64402	N	0.000002	T	0.57373	0.2049	L	0.31065	0.9	0.80722	D	1	D;P;P	0.57899	0.981;0.778;0.858	D;B;B	0.65010	0.931;0.074;0.155	T	0.53365	-0.8449	10	0.27082	T	0.32	.	13.8119	0.63268	0.0743:0.0:0.9257:0.0	.	199;199;199	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	I	199	ENSP00000375067:V199I;ENSP00000385323:V199I;ENSP00000386173:V199I	ENSP00000375067:V199I	V	+	1	0	BCAS3	56306815	1.000000	0.71417	0.899000	0.35326	0.689000	0.40095	6.680000	0.74518	1.334000	0.45468	0.655000	0.94253	GTA		0.323	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		23	35	0	0	0	1	0	23	35				
PTCHD1	139411	broad.mit.edu	37	X	23411054	23411054	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411054G>T	ENST00000379361.4	+	3	2279	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	473					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGAAGGCGAGGAAGCGAACA	0.483																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(1417-1419)gaG>gaT		patched domain containing 1							124.0	126.0	125.0					X																	23411054		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411054G>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1419G>T	X.37:g.23411054G>T	ENSP00000368666:p.Glu473Asp						p.E473D	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	2279	+			473					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1419G>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544014	0.04024	.	.	ENSG00000165186	ENST00000379361	D	0.85171	-1.95	5.93	4.17	0.49024	.	0.202030	0.42821	D	0.000650	T	0.66665	0.2812	N	0.08118	0	0.33128	D	0.542711	B	0.29716	0.255	B	0.30251	0.113	T	0.64050	-0.6498	10	0.15952	T	0.53	.	6.7961	0.23727	0.1486:0.0:0.7091:0.1423	.	473	Q96NR3	PTHD1_HUMAN	D	473	ENSP00000368666:E473D	ENSP00000368666:E473D	E	+	3	2	PTCHD1	23320975	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.236000	0.51336	0.637000	0.30526	0.600000	0.82982	GAG		0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		53	135	1	0	9.40368e-32	1	1.26111e-31	53	135				
MAP7D3	79649	broad.mit.edu	37	X	135314090	135314090	+	Silent	SNP	G	G	A	rs377222097		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314090G>A	ENST00000316077.9	-	8	1246	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	MAP7D3_ENST00000370661.1_Silent_p.S307S|MAP7D3_ENST00000370663.5_Silent_p.S324S|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	342					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACACGTCCACGCTCACCACAG	0.562																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1024-1026)agC>agT		MAP7 domain containing 3							105.0	109.0	107.0					X																	135314090		2183	4252	6435	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135314090G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1026C>T	X.37:g.135314090G>A						MAP7D3_ENST00000370663.5_Silent_p.S324S|MAP7D3_ENST00000370661.1_Silent_p.S307S	p.S342S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1246	-	Acute lymphoblastic leukemia(192;0.000127)		342					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1026C>T	CCDS44004.1																																																																																				0.562	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			63	107	0	0	0	1	0	63	107				
MYO15A	51168	broad.mit.edu	37	17	18077188	18077188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18077188C>A	ENST00000205890.5	+	65	10782	c.10444C>A	c.(10444-10446)Ctg>Atg	p.L3482M	RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Missense_Mutation_p.L746M|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3482	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGATTGCGCTGGGGGACGT	0.642																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(10444-10446)Ctg>Atg		myosin XVA							29.0	32.0	31.0					17																	18077188		1922	4131	6053	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18077188C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10444C>A	17.37:g.18077188C>A	ENSP00000205890:p.Leu3482Met					RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.L746M	p.L3482M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			65	10782	+	all_neural(463;0.228)		3482			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.10444C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	5.602	0.295844	0.10622	.	.	ENSG00000091536	ENST00000205890	D	0.89196	-2.48	5.95	2.93	0.34026	FERM domain (1);	.	.	.	.	D	0.91666	0.7366	L	0.60455	1.87	0.80722	D	1	P;D	0.89917	0.935;1.0	P;D	0.71414	0.737;0.973	D	0.90125	0.4202	9	0.62326	D	0.03	.	9.8939	0.41306	0.0:0.7248:0.0:0.2752	.	746;3482	B4DFC7;Q9UKN7	.;MYO15_HUMAN	M	3482	ENSP00000205890:L3482M	ENSP00000205890:L3482M	L	+	1	2	MYO15A	18017913	0.981000	0.34729	0.396000	0.26296	0.039000	0.13416	2.610000	0.46325	0.430000	0.26230	-0.136000	0.14681	CTG		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	35	1	0	0.014758	1	0.0152625	4	35				
CLSPN	63967	broad.mit.edu	37	1	36205109	36205109	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36205109C>A	ENST00000318121.3	-	19	3222	c.3165G>T	c.(3163-3165)gaG>gaT	p.E1055D	CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000373220.3_Missense_Mutation_p.E991D|CLSPN_ENST00000251195.5_Missense_Mutation_p.E1055D|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Missense_Mutation_p.E1002D	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1055					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCTCATCCTCCAGGTATT	0.398																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3163-3165)gaG>gaT		claspin							203.0	191.0	195.0					1																	36205109		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36205109C>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3165G>T	1.37:g.36205109C>A	ENSP00000312995:p.Glu1055Asp					CLSPN_ENST00000520551.1_Missense_Mutation_p.E1002D|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Missense_Mutation_p.E991D|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1055D	p.E1055D			Q9HAW4	CLSPN_HUMAN			19	3261	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1055					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.3165G>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367892	0.61513	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.35973	1.28;1.3;1.35;1.35	5.6	-3.2	0.05156	.	0.199034	0.44483	D	0.000448	T	0.29223	0.0727	L	0.39326	1.205	0.34165	D	0.669088	P;P	0.42337	0.644;0.776	B;B	0.42319	0.383;0.261	T	0.43327	-0.9398	10	0.62326	D	0.03	-20.0199	13.9872	0.64343	0.0:0.2182:0.0:0.7818	.	991;1055	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	D	1055;1055;991;1002	ENSP00000251195:E1055D;ENSP00000312995:E1055D;ENSP00000362317:E991D;ENSP00000428848:E1002D	ENSP00000251195:E1055D	E	-	3	2	CLSPN	35977696	0.914000	0.31030	0.976000	0.42696	0.973000	0.67179	-0.036000	0.12185	-0.519000	0.06444	-0.143000	0.13931	GAG		0.398	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		8	90	1	0	0.00621372	1	0.00652201	8	90				
SLC2A13	114134	broad.mit.edu	37	12	40345164	40345164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40345164C>A	ENST00000280871.4	-	4	979	c.929G>T	c.(928-930)gGa>gTa	p.G310V	SLC2A13_ENST00000380858.1_Missense_Mutation_p.G310V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	310					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATCACAGGTCCAGCTTTTTT	0.373										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(928-930)gGa>gTa		solute carrier family 2 (facilitated glucose transporter), member 13							58.0	59.0	58.0					12																	40345164		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40345164C>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.929G>T	12.37:g.40345164C>A	ENSP00000280871:p.Gly310Val	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.G310V	p.G310V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			4	979	-		Lung NSC(34;0.105)|all_lung(34;0.123)	310					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.929G>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325254	0.81580	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58652	0.32;0.32	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048801	0.85682	D	0.000000	T	0.66257	0.2771	L	0.46885	1.475	0.80722	D	1	B;B	0.34241	0.302;0.444	B;P	0.48334	0.229;0.574	T	0.65817	-0.6076	10	0.52906	T	0.07	-16.088	18.9337	0.92577	0.0:1.0:0.0:0.0	.	310;310	Q96QE2;E9PE47	MYCT_HUMAN;.	V	310	ENSP00000280871:G310V;ENSP00000370239:G310V	ENSP00000280871:G310V	G	-	2	0	SLC2A13	38631431	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.353000	0.73032	2.706000	0.92434	0.555000	0.69702	GGA		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			7	20	1	0	2.0095e-06	1	2.31757e-06	7	20				
KIAA1217	56243	broad.mit.edu	37	10	24762394	24762394	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24762394C>A	ENST00000376454.3	+	6	1114	c.1084C>A	c.(1084-1086)Cca>Aca	p.P362T	KIAA1217_ENST00000396445.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P362T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P282T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P80T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.P80T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P283T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	362	Pro-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACCCATCTCTCCAAGCCCAAG	0.502																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(238-240)Cca>Aca		KIAA1217							89.0	87.0	88.0					10																	24762394		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762394C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1084C>A	10.37:g.24762394C>A	ENSP00000365637:p.Pro362Thr					KIAA1217_ENST00000376454.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P362T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P80T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P282T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P283T	p.P80T			Q5T5P2	SKT_HUMAN			2	498	+			362					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.238C>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416799	0.83449	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.74	5.74	0.90152	.	0.094859	0.85682	D	0.000000	D	0.82852	0.5127	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D	0.83873	0.0275	10	0.87932	D	0	.	19.9037	0.96999	0.0:1.0:0.0:0.0	.	362;362;80;80;80;80;362;362	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	282;362;362;80;362;362;212;283;80;80;80;80;80	ENSP00000365645:P282T;ENSP00000365639:P362T;ENSP00000392625:P362T;ENSP00000365637:P362T;ENSP00000365635:P362T;ENSP00000404798:P212T;ENSP00000389680:P283T;ENSP00000302343:P80T;ENSP00000379722:P80T;ENSP00000365634:P80T;ENSP00000379723:P80T	ENSP00000302343:P80T	P	+	1	0	KIAA1217	24802400	1.000000	0.71417	0.961000	0.40146	0.985000	0.73830	7.294000	0.78760	2.723000	0.93209	0.650000	0.86243	CCA		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		41	66	1	0	8.01111e-26	1	1.06612e-25	41	66				
TPST1	8460	broad.mit.edu	37	7	65751514	65751514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65751514G>A	ENST00000304842.5	+	3	1287	c.862G>A	c.(862-864)Gac>Aac	p.D288N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	288					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGATCTACAGACCAAGTAAT	0.323																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(862-864)Gac>Aac		tyrosylprotein sulfotransferase 1							113.0	105.0	108.0					7																	65751514		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751514G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.862G>A	7.37:g.65751514G>A	ENSP00000302413:p.Asp288Asn					TPST1_ENST00000480281.1_3'UTR	p.D288N	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			3	1287	+			288					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.862G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230023	0.95173	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.44482	0.92	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.88570	2.965	0.80722	D	1	D;P	0.54964	0.969;0.947	P;P	0.60541	0.876;0.864	T	0.66976	-0.5787	10	0.27082	T	0.32	-23.005	18.8625	0.92278	0.0:0.0:1.0:0.0	.	288;288	F5H7U7;O60507	.;TPST1_HUMAN	N	288	ENSP00000302413:D288N	ENSP00000302413:D288N	D	+	1	0	TPST1	65388949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.737000	0.91562	2.714000	0.92807	0.591000	0.81541	GAC		0.323	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		34	26	0	0	0	1	0	34	26				
ENY2	56943	broad.mit.edu	37	8	110352717	110352717	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110352717G>T	ENST00000520147.1	+	4	211		c.e4-1		ENY2_ENST00000522407.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site|ENY2_ENST00000521688.1_Splice_Site					enhancer of yellow 2 homolog (Drosophila)											endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTTTGCATAAGAGGTAATTAA	0.328																																						ENST00000521688.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.e4-1		enhancer of yellow 2 homolog (Drosophila)							95.0	86.0	89.0					8																	110352717		1825	4078	5903	SO:0001630	splice_region_variant	56943				histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity	g.chr8:110352717G>T		CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000520147.1:c.140-1G>T	8.37:g.110352717G>T						ENY2_ENST00000521662.1_Splice_Site|ENY2_ENST00000522407.1_Splice_Site|ENY2_ENST00000520147.1_Splice_Site		NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)		4	299	+	all_neural(195;0.219)								Splice_Site	SNP	ENST00000520147.1	37			.	.	.	.	.	.	.	.	.	.	G	20.4	3.988286	0.74589	.	.	ENSG00000120533	ENST00000521662;ENST00000521688;ENST00000520147	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENY2	110421893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.318000	0.89990	2.941000	0.99782	0.655000	0.94253	.		0.328	ENY2-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381006.1	NM_020189	Intron	4	52	1	0	3.59834e-05	1	4.01776e-05	4	52				
LRRC37A11P	342666	broad.mit.edu	37	17	37188635	37188635	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37188635C>A	ENST00000425901.2	+	0	2477					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AAAGCAGAGGCTCCGCTGAGT	0.527																																						ENST00000425901.2																			0																																																			0							g.chr17:37188635C>A			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188635C>A								NR_033753.2						0	2477	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.527	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		33	47	1	0	9.93527e-08	1	1.17848e-07	33	47				
FOXS1	2307	broad.mit.edu	37	20	30433195	30433195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30433195G>A	ENST00000375978.3	-	1	225	c.151C>T	c.(151-153)Cga>Tga	p.R51*		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	51					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAGGCGAATCGGCCCATGATG	0.617																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(151-153)Cga>Tga		forkhead box S1							75.0	63.0	67.0					20																	30433195		2203	4300	6503	SO:0001587	stop_gained	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30433195G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.151C>T	20.37:g.30433195G>A	ENSP00000365145:p.Arg51*						p.R51*	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	225	-			51					Q96D28	Nonsense_Mutation	SNP	ENST00000375978.3	37	c.151C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219878	0.95139	.	.	ENSG00000179772	ENST00000375978	.	.	.	4.44	4.44	0.53790	.	0.000000	0.44483	D	0.000457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8251	0.78698	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000365145:R51X	R	-	1	2	FOXS1	29896856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.097000	0.57741	2.309000	0.77851	0.555000	0.69702	CGA		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		15	35	0	0	0	1	0	15	35				
CDH2	1000	broad.mit.edu	37	18	25565020	25565020	+	Missense_Mutation	SNP	G	G	A	rs140836073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25565020G>A	ENST00000269141.3	-	13	2576	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	CDH2_ENST00000399380.3_Missense_Mutation_p.A687V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	718					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCAAGCCCCGCACCCACAAT	0.493																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(2152-2154)gCg>gTg		cadherin 2, type 1, N-cadherin (neuronal)		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	96.0	88.0	90.0		2153	6.1	0.6	18	dbSNP_134	90	0,8600		0,0,4300	no	missense	CDH2	NM_001792.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	718/907	25565020	1,13005	2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565020G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2153C>T	18.37:g.25565020G>A	ENSP00000269141:p.Ala718Val					CDH2_ENST00000399380.3_Missense_Mutation_p.A687V	p.A718V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			13	2576	-			718					A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.2153C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160558	0.78226	2.27E-4	0.0	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.58652	0.35;0.32	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	M	0.64567	1.98	0.80722	D	1	D;D	0.69078	0.997;0.986	P;B	0.53760	0.734;0.369	T	0.63386	-0.6649	10	0.32370	T	0.25	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	687;718	A8MWK3;P19022	.;CADH2_HUMAN	V	718;687	ENSP00000269141:A718V;ENSP00000382312:A687V	ENSP00000269141:A718V	A	-	2	0	CDH2	23819018	1.000000	0.71417	0.636000	0.29352	0.973000	0.67179	9.414000	0.97362	2.890000	0.99128	0.585000	0.79938	GCG		0.493	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		18	21	0	0	0	1	0	18	21				
OR51A4	401666	broad.mit.edu	37	11	4967870	4967870	+	Missense_Mutation	SNP	C	C	T	rs549000083		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4967870C>T	ENST00000380373.2	-	1	486	c.461G>A	c.(460-462)aGc>aAc	p.S154N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGAGCATGCTCTTAAAGGA	0.423													.|||	1	0.000199681	0.0	0.0	5008	,	,		25623	0.0		0.0	False		,,,				2504	0.001					ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(460-462)aGc>aAc		olfactory receptor, family 51, subfamily A, member 4							178.0	176.0	177.0					11																	4967870		2192	4272	6464	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967870C>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.461G>A	11.37:g.4967870C>T	ENSP00000369731:p.Ser154Asn					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.S154N	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	486	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	154						Missense_Mutation	SNP	ENST00000380373.2	37	c.461G>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011574	0.35511	.	.	ENSG00000205497	ENST00000380373	T	0.47177	0.85	3.58	0.627	0.17675	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36026	0.0952	L	0.38175	1.15	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.31336	-0.9947	9	0.45353	T	0.12	.	7.5844	0.27985	0.0:0.7032:0.0:0.2968	.	154	Q8NGJ6	O51A4_HUMAN	N	154	ENSP00000369731:S154N	ENSP00000369731:S154N	S	-	2	0	OR51A4	4924446	0.003000	0.15002	0.000000	0.03702	0.590000	0.36582	1.283000	0.33237	0.029000	0.15352	0.580000	0.79431	AGC		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		87	222	0	0	0	1	0	87	222				
ZNF366	167465	broad.mit.edu	37	5	71756469	71756469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71756469G>T	ENST00000318442.5	-	2	1345	c.855C>A	c.(853-855)caC>caA	p.H285Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	285					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTCCCGCAGTGCGTGCACG	0.632																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(853-855)caC>caA		zinc finger protein 366							119.0	109.0	112.0					5																	71756469		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756469G>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.855C>A	5.37:g.71756469G>T	ENSP00000313158:p.His285Gln						p.H285Q	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1345	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	285					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.855C>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	8.489	0.861554	0.17178	.	.	ENSG00000178175	ENST00000318442	T	0.76448	-1.02	5.79	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.087773	0.50627	D	0.000112	T	0.49270	0.1547	N	0.02876	-0.465	0.27843	N	0.941047	B	0.02656	0.0	B	0.09377	0.004	T	0.31223	-0.9951	10	0.36615	T	0.2	-45.4504	2.7838	0.05368	0.1556:0.2088:0.5019:0.1337	.	285	Q8N895	ZN366_HUMAN	Q	285	ENSP00000313158:H285Q	ENSP00000313158:H285Q	H	-	3	2	ZNF366	71792225	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	0.863000	0.27913	1.430000	0.47334	0.561000	0.74099	CAC		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			38	64	1	0	4.92203e-23	1	6.50827e-23	38	64				
SLC50A1	55974	broad.mit.edu	37	1	155110071	155110071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155110071G>A	ENST00000368404.4	+	4	379	c.317G>A	c.(316-318)gGg>gAg	p.G106E	SLC50A1_ENST00000303343.8_Intron|SLC50A1_ENST00000484157.1_Missense_Mutation_p.G41E|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000368401.5_Missense_Mutation_p.G51E	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	106					carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACCCTGCTAGGGGTCCTTCTC	0.547																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(316-318)gGg>gAg		solute carrier family 50 (sugar efflux transporter), member 1							96.0	93.0	94.0					1																	155110071		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110071G>A	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.317G>A	1.37:g.155110071G>A	ENSP00000357389:p.Gly106Glu					SLC50A1_ENST00000484157.1_Missense_Mutation_p.G41E|SLC50A1_ENST00000303343.8_Intron|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000368401.5_Missense_Mutation_p.G51E	p.G106E	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			4	379	+			106					Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.317G>A	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723956	0.48728	.	.	ENSG00000169241	ENST00000484157;ENST00000368404;ENST00000368401	.	.	.	4.78	1.74	0.24563	.	0.575377	0.18477	N	0.140060	T	0.05502	0.0145	N	0.08118	0	0.33292	D	0.563615	B;P	0.40266	0.019;0.71	B;B	0.36378	0.022;0.223	T	0.23726	-1.0180	9	0.30078	T	0.28	-0.1624	4.5227	0.11966	0.0878:0.1588:0.6001:0.1532	.	51;106	Q9BRV3-2;Q9BRV3	.;SWET1_HUMAN	E	41;106;51	.	ENSP00000357386:G51E	G	+	2	0	SLC50A1	153376695	0.264000	0.24093	1.000000	0.80357	0.987000	0.75469	0.385000	0.20685	0.277000	0.22141	-0.136000	0.14681	GGG		0.547	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		43	40	0	0	0	1	0	43	40				
SLC22A17	51310	broad.mit.edu	37	14	23818480	23818480	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23818480C>T	ENST00000206544.8	-	3	863		c.e3+1		SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000354772.3_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGCCACTTACGCATCAGGTA	0.617																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.e4+1		solute carrier family 22, member 17							67.0	62.0	63.0					14																	23818480		2203	4300	6503	SO:0001630	splice_region_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23818480C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.526+1G>A	14.37:g.23818480C>T						SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000206544.8_Splice_Site		NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	4	1030	-	all_cancers(95;7.12e-06)							A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Splice_Site	SNP	ENST00000206544.8	37		CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845470	0.71603	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8628	0.79038	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A17	22888320	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.930000	0.63462	2.355000	0.79922	0.557000	0.71058	.		0.617	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	Intron	23	42	0	0	0	1	0	23	42				
DENND1A	57706	broad.mit.edu	37	9	126371738	126371738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126371738C>A	ENST00000373624.2	-	11	943	c.742G>T	c.(742-744)Gga>Tga	p.G248*	DENND1A_ENST00000373620.3_Nonsense_Mutation_p.G248*|DENND1A_ENST00000373618.1_Nonsense_Mutation_p.G216*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.G32*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.G218*|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.G216*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	248	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAATGGATTCCTATGAGGTAG	0.458																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(742-744)Gga>Tga		DENN/MADD domain containing 1A							111.0	105.0	107.0					9																	126371738		2203	4300	6503	SO:0001587	stop_gained	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126371738C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.742G>T	9.37:g.126371738C>A	ENSP00000362727:p.Gly248*					DENND1A_ENST00000373618.1_Nonsense_Mutation_p.G216*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.G32*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.G248*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.G218*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.G216*|DENND1A_ENST00000473039.1_5'UTR	p.G248*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			11	943	-			248			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Nonsense_Mutation	SNP	ENST00000373624.2	37	c.742G>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	41	8.844405	0.98974	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.2197	17.0768	0.86588	0.0:1.0:0.0:0.0	.	.	.	.	X	248;32;216;248;218;216	.	ENSP00000362720:G216X	G	-	1	0	DENND1A	125411559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.418000	0.66429	2.780000	0.95670	0.655000	0.94253	GGA		0.458	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		4	40	1	0	0.150653	1	0.152692	4	40				
TTN	7273	broad.mit.edu	37	2	179428603	179428603	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179428603T>C	ENST00000591111.1	-	276	77557	c.77333A>G	c.(77332-77334)cAg>cGg	p.Q25778R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q18354R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q18479R|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24851R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q27419R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q18546R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25778	Fibronectin type-III 87. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGAAACCTGGGTCCAAGA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(82255-82257)cAg>cGg		titin							96.0	91.0	92.0					2																	179428603		1856	4100	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428603T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77333A>G	2.37:g.179428603T>C	ENSP00000465570:p.Gln25778Arg					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q18354R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24851R|TTN_ENST00000359218.5_Missense_Mutation_p.Q18479R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q18546R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q25778R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.Q27419R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82480	-			25778					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82256A>G		.	.	.	.	.	.	.	.	.	.	T	10.98	1.505117	0.26949	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.97	4.8	0.61643	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43211	0.1237	N	0.11698	0.16	0.31144	N	0.706332	P;P;P;P	0.42584	0.784;0.784;0.784;0.662	P;P;P;B	0.45753	0.492;0.492;0.492;0.303	T	0.52442	-0.8575	9	0.87932	D	0	.	13.5617	0.61793	0.0:0.0:0.1295:0.8705	.	18354;18479;18546;25778	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	24851;18354;18546;18479;18352	ENSP00000343764:Q24851R;ENSP00000434586:Q18354R;ENSP00000340554:Q18546R;ENSP00000352154:Q18479R	ENSP00000340554:Q18546R	Q	-	2	0	TTN	179136849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.045000	0.64220	1.049000	0.40321	0.533000	0.62120	CAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	72	0	0	0	1	0	9	72				
GCN1L1	10985	broad.mit.edu	37	12	120613992	120613992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120613992C>T	ENST00000300648.6	-	10	879	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	289					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGGTCAAGCGTCACTGATG	0.483																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(865-867)acG>acA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							100.0	102.0	101.0					12																	120613992		2044	4202	6246	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120613992C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.867G>A	12.37:g.120613992C>T							p.T289T	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			10	879	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		289					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.867G>A	CCDS41847.1																																																																																				0.483	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			30	44	0	0	0	1	0	30	44				
SENP6	26054	broad.mit.edu	37	6	76343439	76343439	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343439T>C	ENST00000447266.2	+	4	828	c.350T>C	c.(349-351)tTg>tCg	p.L117S	SENP6_ENST00000327284.8_Missense_Mutation_p.L117S|SENP6_ENST00000370010.2_Missense_Mutation_p.L117S|SENP6_ENST00000370014.3_Missense_Mutation_p.L117S	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	117					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAGAAATTGAGGTATAGG	0.358																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(349-351)tTg>tCg		SUMO1/sentrin specific peptidase 6							64.0	61.0	62.0					6																	76343439		1838	4084	5922	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76343439T>C		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.350T>C	6.37:g.76343439T>C	ENSP00000402527:p.Leu117Ser					SENP6_ENST00000447266.2_Missense_Mutation_p.L117S|SENP6_ENST00000327284.8_Missense_Mutation_p.L117S|SENP6_ENST00000370010.2_Missense_Mutation_p.L117S	p.L117S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			4	969	+		all_hematologic(105;0.189)	117					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.350T>C	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.516980	0.44763	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.19	5.19	0.71726	.	0.239719	0.34435	N	0.003978	T	0.43255	0.1239	M	0.70275	2.135	0.80722	D	1	P;P;D	0.53745	0.793;0.689;0.962	B;B;P	0.50162	0.436;0.252;0.633	T	0.49447	-0.8939	10	0.48119	T	0.1	-5.5061	10.0271	0.42079	0.0:0.0802:0.0:0.9198	.	117;117;117	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	S	117;117;117;117;117;8;7	ENSP00000359027:L117S;ENSP00000359031:L117S;ENSP00000321820:L117S;ENSP00000402527:L117S;ENSP00000426480:L8S;ENSP00000391426:L7S	ENSP00000321820:L117S	L	+	2	0	SENP6	76400159	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.411000	0.52672	1.944000	0.56390	0.482000	0.46254	TTG		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		17	32	0	0	0	1	0	17	32				
PSIP1	11168	broad.mit.edu	37	9	15479598	15479598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15479598G>A	ENST00000380733.4	-	7	887	c.544C>T	c.(544-546)Cga>Tga	p.R182*	PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R182*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	182					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTGCAGGTCGTCCTCTTTTA	0.373																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(544-546)Cga>Tga		PC4 and SFRS1 interacting protein 1							134.0	120.0	125.0					9																	15479598		2202	4300	6502	SO:0001587	stop_gained	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15479598G>A	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.544C>T	9.37:g.15479598G>A	ENSP00000370109:p.Arg182*					PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R182*	p.R182*			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	7	887	-			182					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Nonsense_Mutation	SNP	ENST00000380733.4	37	c.544C>T	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535773	0.96460	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	.	.	.	5.32	4.3	0.51218	.	0.052816	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6122	0.45429	0.0:0.0:0.6818:0.3182	.	.	.	.	X	182	.	ENSP00000370091:R182X	R	-	1	2	PSIP1	15469598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.684000	0.54671	2.642000	0.89623	0.591000	0.81541	CGA		0.373	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		25	43	0	0	0	1	0	25	43				
AK5	26289	broad.mit.edu	37	1	77984313	77984313	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77984313T>G	ENST00000354567.2	+	11	1475	c.1212T>G	c.(1210-1212)caT>caG	p.H404Q	AK5_ENST00000344720.5_Missense_Mutation_p.H378Q	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	404	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTTACACATCTCTCAACTG	0.473																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(1132-1134)caT>caG		adenylate kinase 5							87.0	77.0	80.0					1																	77984313		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77984313T>G	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1212T>G	1.37:g.77984313T>G	ENSP00000346577:p.His404Gln					AK5_ENST00000354567.2_Missense_Mutation_p.H404Q	p.H378Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			11	2160	+			404					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.1134T>G	CCDS675.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548291	0.45383	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.78246	-1.16;-1.16	5.21	-0.162	0.13367	.	0.075007	0.50627	D	0.000102	T	0.50274	0.1606	L	0.35793	1.09	0.80722	D	1	B	0.16603	0.018	B	0.12156	0.007	T	0.51020	-0.8758	10	0.87932	D	0	-12.9097	9.5722	0.39436	0.0:0.3637:0.0:0.6363	.	404	Q9Y6K8	KAD5_HUMAN	Q	404;378	ENSP00000346577:H404Q;ENSP00000341430:H378Q	ENSP00000341430:H378Q	H	+	3	2	AK5	77756901	0.375000	0.25089	0.918000	0.36340	0.869000	0.49853	-0.317000	0.08060	0.083000	0.17047	-0.254000	0.11334	CAT		0.473	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		3	47	0	0	0	1	0	3	47				
SPATA4	132851	broad.mit.edu	37	4	177114617	177114617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177114617G>A	ENST00000280191.2	-	2	443	c.335C>T	c.(334-336)gCa>gTa	p.A112V	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	112						cytoplasm (GO:0005737)		p.A112E(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTCCAACTGTGCCCAGTTATC	0.368																																						ENST00000280191.2																			1	Substitution - Missense(1)	p.A112E(1)	lung(1)	NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(334-336)gCa>gTa		spermatogenesis associated 4							110.0	112.0	111.0					4																	177114617		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177114617G>A	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.335C>T	4.37:g.177114617G>A	ENSP00000280191:p.Ala112Val					SPATA4_ENST00000515234.1_5'UTR	p.A112V	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	2	443	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	112					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.335C>T	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164804	0.78339	.	.	ENSG00000150628	ENST00000280191	T	0.23950	1.88	5.64	4.78	0.61160	.	0.212444	0.40302	N	0.001135	T	0.43366	0.1244	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.31586	-0.9938	10	0.54805	T	0.06	-10.4711	13.5334	0.61635	0.0:0.1968:0.8032:0.0	.	112	Q8NEY3	SPAT4_HUMAN	V	112	ENSP00000280191:A112V	ENSP00000280191:A112V	A	-	2	0	SPATA4	177351611	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.655000	0.54460	1.411000	0.46957	0.561000	0.74099	GCA		0.368	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		28	48	0	0	0	1	0	28	48				
TNXB	7148	broad.mit.edu	37	6	32016145	32016145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32016145C>A	ENST00000375244.3	-	29	10241	c.10040G>T	c.(10039-10041)aGg>aTg	p.R3347M	TNXB_ENST00000375247.2_Missense_Mutation_p.R3345M|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3392	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCACCGGTCCTGGCCTCCAC	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10039-10041)aGg>aTg		tenascin XB							22.0	25.0	24.0					6																	32016145		1975	4138	6113	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32016145C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10040G>T	6.37:g.32016145C>A	ENSP00000364393:p.Arg3347Met					TNXB_ENST00000375247.2_Missense_Mutation_p.R3345M	p.R3347M			P22105	TENX_HUMAN			29	10241	-			3392			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10040G>T		.	.	.	.	.	.	.	.	.	.	C	15.73	2.920493	0.52653	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.32515	1.45;1.45	4.65	2.3	0.28687	.	0.835979	0.10457	N	0.672443	T	0.02727	0.0082	N	0.01048	-1.04	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.40924	-0.9537	10	0.45353	T	0.12	.	2.7225	0.05205	0.292:0.2013:0.0:0.5066	.	3345	P22105-3	.	M	3347;3345	ENSP00000364393:R3347M;ENSP00000364396:R3345M	ENSP00000364393:R3347M	R	-	2	0	TNXB	32124123	0.216000	0.23585	0.003000	0.11579	0.401000	0.30781	0.268000	0.18571	0.318000	0.23185	-0.339000	0.08088	AGG		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	18	1	0	1.23904e-05	1	1.39987e-05	5	18				
SLC17A5	26503	broad.mit.edu	37	6	74304812	74304812	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74304812T>C	ENST00000355773.5	-	11	1744	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	492					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTCTGTGTCCATGGTGAT	0.358																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1474-1476)ggA>ggG		solute carrier family 17 (acidic sugar transporter), member 5							182.0	177.0	179.0					6																	74304812		2203	4300	6503	SO:0001819	synonymous_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74304812T>C	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1476A>G	6.37:g.74304812T>C							p.G492G	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			11	1744	-			492					Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	c.1476A>G	CCDS4981.1																																																																																				0.358	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			34	79	0	0	0	1	0	34	79				
ATP6V1B1	525	broad.mit.edu	37	2	71170823	71170823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71170823G>A	ENST00000234396.4	+	2	227	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V52M|AC007040.7_ENST00000422761.1_RNA|AC007040.7_ENST00000447639.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	52					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CGGGCCCCTGGTGGTGCTGGA	0.627																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(154-156)Gtg>Atg		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							111.0	96.0	101.0					2																	71170823		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71170823G>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.154G>A	2.37:g.71170823G>A	ENSP00000234396:p.Val52Met					AC007040.11_ENST00000606025.1_Intron|AC007040.7_ENST00000422761.1_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V52M|AC007040.7_ENST00000447639.1_RNA	p.V52M	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			2	227	+			52					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.154G>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151894	0.78001	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000454446	D;D;D	0.90385	-2.66;-2.66;-2.66	4.88	4.88	0.63580	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);	0.304666	0.21691	N	0.070566	D	0.94036	0.8089	M	0.75777	2.31	0.53688	D	0.999974	D;B	0.63046	0.992;0.422	D;P	0.68943	0.961;0.524	D	0.92447	0.5967	10	0.27082	T	0.32	-36.6757	13.5224	0.61576	0.0:0.0:1.0:0.0	.	52;52	C9JL73;P15313	.;VATB1_HUMAN	M	52;27;52;69	ENSP00000234396:V52M;ENSP00000388353:V52M;ENSP00000408361:V69M	ENSP00000234396:V52M	V	+	1	0	ATP6V1B1	71024331	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	5.946000	0.70234	2.248000	0.74166	0.561000	0.74099	GTG		0.627	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		10	20	0	0	0	1	0	10	20				
FAM189B	10712	broad.mit.edu	37	1	155220472	155220472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155220472G>A	ENST00000361361.2	-	9	1614	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FAM189B_ENST00000368368.3_Missense_Mutation_p.R351C|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.R273C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	369						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCACGGCTGCGCTGGATGGAG	0.706											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361361.2																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1105-1107)Cgc>Tgc		family with sequence similarity 189, member B							15.0	19.0	17.0					1																	155220472		2190	4277	6467	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155220472G>A	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1105C>T	1.37:g.155220472G>A	ENSP00000354958:p.Arg369Cys		OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1769	FAM189B_ENST00000368368.3_Missense_Mutation_p.R351C|FAM189B_ENST00000350210.2_Missense_Mutation_p.R273C	p.R369C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN			9	1614	-			369					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1105C>T	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215550	0.79352	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361	T;T;T	0.20738	2.05;2.32;2.33	4.37	4.37	0.52481	.	0.175245	0.37761	N	0.001957	T	0.17874	0.0429	N	0.08118	0	0.44181	D	0.996997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.982;0.988;0.973	T	0.29212	-1.0019	10	0.87932	D	0	.	14.7835	0.69784	0.0:0.0:1.0:0.0	.	134;351;273;369	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	C	273;351;369;79	ENSP00000307128:R273C;ENSP00000357352:R351C;ENSP00000354958:R369C	ENSP00000323164:R79C	R	-	1	0	FAM189B	153487096	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.397000	0.44477	2.429000	0.82318	0.563000	0.77884	CGC		0.706	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		12	16	0	0	0	1	0	12	16				
LRRK2	120892	broad.mit.edu	37	12	40681204	40681204	+	Missense_Mutation	SNP	C	C	A	rs200700326		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40681204C>A	ENST00000298910.7	+	20	2610	c.2552C>A	c.(2551-2553)gCt>gAt	p.A851D	LRRK2_ENST00000343742.2_Missense_Mutation_p.A851D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	851					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAAAGTGCTGTGGAAGAA	0.378																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2551-2553)gCt>gAt		leucine-rich repeat kinase 2							112.0	106.0	108.0					12																	40681204		2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40681204C>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2552C>A	12.37:g.40681204C>A	ENSP00000298910:p.Ala851Asp					LRRK2_ENST00000343742.2_Missense_Mutation_p.A851D	p.A851D	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			20	2610	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	851					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2552C>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	6.179	0.401221	0.11696	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71934	2.24;-0.61	5.5	2.29	0.28610	.	1.312210	0.04821	N	0.436972	T	0.48926	0.1527	N	0.08118	0	0.09310	N	1	B;B	0.28552	0.201;0.215	B;B	0.24155	0.024;0.051	T	0.42447	-0.9451	10	0.37606	T	0.19	.	4.606	0.12378	0.0:0.4779:0.1681:0.3541	.	851;851	E9PC85;Q5S007	.;LRRK2_HUMAN	D	851	ENSP00000341930:A851D;ENSP00000298910:A851D	ENSP00000298910:A851D	A	+	2	0	LRRK2	38967471	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.622000	0.24433	0.689000	0.31550	0.491000	0.48974	GCT		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		12	21	1	0	2.27111e-07	1	2.66951e-07	12	21				
PPIC	5480	broad.mit.edu	37	5	122365005	122365005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122365005C>A	ENST00000306442.4	-	2	341	c.226G>T	c.(226-228)Gga>Tga	p.G76*		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	76	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CATACCTCTCCTGTTGCTAGA	0.353																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(226-228)Gga>Tga		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						101.0	102.0	102.0					5																	122365005		2203	4300	6503	SO:0001587	stop_gained	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122365005C>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.226G>T	5.37:g.122365005C>A	ENSP00000303057:p.Gly76*						p.G76*	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	2	341	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	76			PPIase cyclophilin-type.		A4LBB5	Nonsense_Mutation	SNP	ENST00000306442.4	37	c.226G>T	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423363	0.96111	.	.	ENSG00000168938	ENST00000306442	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000303057:G76X	G	-	1	0	PPIC	122392904	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.487000	0.81328	2.786000	0.95864	0.563000	0.77884	GGA		0.353	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		30	55	1	0	5.60225e-13	1	7.08299e-13	30	55				
ADPRHL2	54936	broad.mit.edu	37	1	36558763	36558763	+	Missense_Mutation	SNP	C	C	A	rs372701793		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36558763C>A	ENST00000373178.4	+	6	898	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	290						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CTGCATGGAGCCAGACCCTGA	0.552																																						ENST00000373178.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(868-870)Cca>Aca		ADP-ribosylhydrolase like 2							124.0	117.0	120.0					1																	36558763		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36558763C>A	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.868C>A	1.37:g.36558763C>A	ENSP00000362273:p.Pro290Thr						p.P290T	NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN			6	898	+		Myeloproliferative disorder(586;0.0393)	290					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.868C>A	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102460	0.76983	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.46451	0.87	5.74	5.74	0.90152	.	0.052798	0.85682	D	0.000000	T	0.47135	0.1429	M	0.78801	2.425	0.50813	D	0.999896	P	0.48694	0.914	P	0.47470	0.548	T	0.41928	-0.9481	10	0.11794	T	0.64	-7.1343	10.3767	0.44085	0.0:0.7792:0.1465:0.0743	.	290	Q9NX46	ARHL2_HUMAN	T	290;210;136	ENSP00000362273:P290T	ENSP00000362273:P290T	P	+	1	0	ADPRHL2	36331350	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.637000	0.37155	2.712000	0.92718	0.563000	0.77884	CCA		0.552	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		9	64	1	0	7.48243e-07	1	8.70085e-07	9	64				
ACTRT1	139741	broad.mit.edu	37	X	127185265	127185265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:127185265G>A	ENST00000371124.3	-	1	1117	c.921C>T	c.(919-921)ctC>ctT	p.L307L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	307						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAGCCCAGGGAGGAGAGTGG	0.493																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(919-921)ctC>ctT		actin-related protein T1							109.0	88.0	95.0					X																	127185265		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185265G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.921C>T	X.37:g.127185265G>A							p.L307L	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1117	-			307					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.921C>T	CCDS14611.1																																																																																				0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		7	91	0	0	0	1	0	7	91				
LTBP3	4054	broad.mit.edu	37	11	65325242	65325242	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65325242C>A	ENST00000301873.5	-	1	457	c.189G>T	c.(187-189)aaG>aaT	p.K63N	LTBP3_ENST00000322147.4_Missense_Mutation_p.K63N|LTBP3_ENST00000536982.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	63	Gly-rich.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAAAGACCACCTTGAAGCGCT	0.711																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(187-189)aaG>aaT		latent transforming growth factor beta binding protein 3							33.0	27.0	29.0					11																	65325242		2200	4296	6496	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65325242C>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.189G>T	11.37:g.65325242C>A	ENSP00000301873:p.Lys63Asn					LTBP3_ENST00000322147.4_Missense_Mutation_p.K63N	p.K63N	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			1	457	-			63			Gly-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.189G>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820641	0.71028	.	.	ENSG00000168056	ENST00000322147;ENST00000301873	D;D	0.84944	-1.85;-1.92	3.2	2.24	0.28232	.	0.130764	0.45126	U	0.000383	D	0.87249	0.6130	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.722;0.996	D	0.86338	0.1703	10	0.87932	D	0	.	9.9859	0.41841	0.0:0.7902:0.2098:0.0	.	63;63	Q9NS15;Q9NS15-2	LTBP3_HUMAN;.	N	63	ENSP00000326647:K63N;ENSP00000301873:K63N	ENSP00000301873:K63N	K	-	3	2	LTBP3	65081818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.374000	0.44274	0.645000	0.30675	0.491000	0.48974	AAG		0.711	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		6	14	1	0	0.00198382	1	0.00210581	6	14				
GCC1	79571	broad.mit.edu	37	7	127222701	127222701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127222701C>A	ENST00000321407.2	-	2	2119	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	565					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCCAGCTCCTGCCGGTGGA	0.647																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1693-1695)caG>caT		GRIP and coiled-coil domain containing 1							29.0	32.0	31.0					7																	127222701		2202	4297	6499	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222701C>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1695G>T	7.37:g.127222701C>A	ENSP00000318821:p.Gln565His						p.Q565H	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	2119	-			565					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1695G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973611	0.34848	.	.	ENSG00000179562	ENST00000321407	T	0.13420	2.59	5.24	2.43	0.29744	.	0.053759	0.85682	N	0.000000	T	0.14657	0.0354	M	0.68952	2.095	0.58432	D	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.04103	-1.0977	10	0.66056	D	0.02	-17.5473	7.0894	0.25275	0.0:0.6962:0.1422:0.1616	.	565	Q96CN9	GCC1_HUMAN	H	565	ENSP00000318821:Q565H	ENSP00000318821:Q565H	Q	-	3	2	GCC1	127009937	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.358000	0.34102	0.286000	0.22352	-0.136000	0.14681	CAG		0.647	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		5	72	1	0	0.000602214	1	0.000649039	5	72				
DNAJB2	3300	broad.mit.edu	37	2	220149426	220149426	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220149426C>T	ENST00000336576.5	+	9	980	c.692C>T	c.(691-693)tCt>tTt	p.S231F	DNAJB2_ENST00000392086.4_Missense_Mutation_p.S231F|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	231					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCCAGGTCTGGGGGCACT	0.637																																						ENST00000336576.5																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(691-693)tCt>tTt		DnaJ (Hsp40) homolog, subfamily B, member 2							40.0	40.0	40.0					2																	220149426		2203	4300	6503	SO:0001583	missense	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220149426C>T		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.692C>T	2.37:g.220149426C>T	ENSP00000338019:p.Ser231Phe					DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.S231F	p.S231F	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	980	+		Renal(207;0.0474)	231					A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	c.692C>T	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066858	0.36470	.	.	ENSG00000135924	ENST00000336576;ENST00000392086;ENST00000392087	T;T;T	0.48201	0.82;0.82;0.82	4.83	3.0	0.34707	.	1.304230	0.05289	N	0.520682	T	0.41003	0.1140	L	0.27053	0.805	0.09310	N	1	B;B	0.26400	0.148;0.104	B;B	0.30646	0.08;0.118	T	0.43393	-0.9394	10	0.66056	D	0.02	.	9.7892	0.40695	0.0:0.8291:0.0:0.1709	.	231;231	P25686;P25686-2	DNJB2_HUMAN;.	F	231;231;200	ENSP00000338019:S231F;ENSP00000375936:S231F;ENSP00000375937:S200F	ENSP00000338019:S231F	S	+	2	0	DNAJB2	219857670	0.026000	0.19158	0.029000	0.17559	0.953000	0.61014	2.960000	0.49161	0.616000	0.30141	0.462000	0.41574	TCT		0.637	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			16	23	0	0	0	1	0	16	23				
KMT2C	58508	broad.mit.edu	37	7	151945083	151945083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151945083C>T	ENST00000262189.6	-	14	2654	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M812I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	812					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGTTGTTGGCATGATGTTTC	0.448																																						ENST00000355193.2																			0											c.(2434-2436)atG>atA		lysine (K)-specific methyltransferase 2C							425.0	377.0	393.0					7																	151945083		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945083C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2436G>A	7.37:g.151945083C>T	ENSP00000262189:p.Met812Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I	p.M812I							14	2654	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2436G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627090|1.627090	0.28978|0.28978	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.82619	.|-1.63;-1.63	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.497489	.|0.16641	.|N	.|0.205640	T|T	0.70736|0.70736	0.3258|0.3258	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	T|T	0.62927|0.62927	-0.6750|-0.6750	5|10	.|0.15952	.|T	.|0.53	.|.	9.405|9.405	0.38455|0.38455	0.2476:0.61:0.1424:0.0|0.2476:0.61:0.1424:0.0	.|.	.|812	.|Q8NEZ4	.|MLL3_HUMAN	T|I	8|812	.|ENSP00000262189:M812I;ENSP00000347325:M812I	.|ENSP00000262189:M812I	A|M	-|-	1|3	0|0	MLL3|MLL3	151576016|151576016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.894000|1.894000	0.39768|0.39768	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	431	0	0	0	1	0	11	431				
FAM8A1	51439	broad.mit.edu	37	6	17605235	17605235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17605235A>G	ENST00000259963.3	+	3	987	c.932A>G	c.(931-933)tAc>tGc	p.Y311C		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	311	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCACTTATATACAGATTATTA	0.284																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(931-933)tAc>tGc		family with sequence similarity 8, member A1							103.0	109.0	107.0					6																	17605235		2203	4300	6503	SO:0001583	missense	51439					integral to membrane		g.chr6:17605235A>G	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.932A>G	6.37:g.17605235A>G	ENSP00000259963:p.Tyr311Cys						p.Y311C	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		3	987	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	311			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.932A>G	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.330926	0.81690	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.84	5.84	0.93424	RDD (1);	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72320	-0.4329	9	0.72032	D	0.01	-9.7251	16.2109	0.82158	1.0:0.0:0.0:0.0	.	311	Q9UBU6	FA8A1_HUMAN	C	61;311	.	ENSP00000259963:Y311C	Y	+	2	0	FAM8A1	17713214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.907000	0.92634	2.230000	0.72887	0.455000	0.32223	TAC		0.284	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			5	58	0	0	0	1	0	5	58				
OSBP2	23762	broad.mit.edu	37	22	31286930	31286930	+	Silent	SNP	C	C	T	rs370458357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286930C>T	ENST00000332585.6	+	8	1943	c.1839C>T	c.(1837-1839)gaC>gaT	p.D613D	OSBP2_ENST00000403222.3_Silent_p.D447D|OSBP2_ENST00000535268.1_Silent_p.D157D|OSBP2_ENST00000382310.3_Silent_p.D564D|OSBP2_ENST00000401475.1_Silent_p.D246D|OSBP2_ENST00000437268.2_Silent_p.D355D|OSBP2_ENST00000446658.2_Silent_p.D612D|OSBP2_ENST00000407373.1_Silent_p.D440D	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	613					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACCGCCTCGACGACATGGGCC	0.662											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1837-1839)gaC>gaT		oxysterol binding protein 2							58.0	64.0	62.0					22																	31286930		2166	4259	6425	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31286930C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1839C>T	22.37:g.31286930C>T			OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	OSBP2_ENST00000382310.3_Silent_p.D564D|OSBP2_ENST00000403222.3_Silent_p.D447D|OSBP2_ENST00000446658.2_Silent_p.D612D|OSBP2_ENST00000407373.1_Silent_p.D440D|OSBP2_ENST00000401475.1_Silent_p.D246D|OSBP2_ENST00000535268.1_Silent_p.D157D|OSBP2_ENST00000437268.2_Silent_p.D355D	p.D613D	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			8	1943	+			613					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.1839C>T	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079196	0.20227	.	.	ENSG00000184792	ENST00000453621;ENST00000431368	.	.	.	4.97	-8.09	0.01090	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50039	-0.8874	4	.	.	.	-25.5966	6.1447	0.20278	0.0765:0.2728:0.45:0.2007	.	.	.	.	M	284;285	.	.	T	+	2	0	OSBP2	29616930	0.059000	0.20769	0.818000	0.32626	0.965000	0.64279	-1.493000	0.02298	-1.201000	0.02659	-1.004000	0.02495	ACG		0.662	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		4	45	0	0	0	1	0	4	45				
DEGS2	123099	broad.mit.edu	37	14	100615992	100615992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100615992C>T	ENST00000305631.5	-	2	713	c.138G>A	c.(136-138)gcG>gcA	p.A46A	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCACCAGCACCGCCCACTTGA	0.692																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(136-138)gcG>gcA		delta(4)-desaturase, sphingolipid 2							22.0	26.0	25.0					14																	100615992		2196	4294	6490	SO:0001819	synonymous_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615992C>T		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.138G>A	14.37:g.100615992C>T						DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	p.A46A	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	713	-		Melanoma(154;0.212)	46						Silent	SNP	ENST00000305631.5	37	c.138G>A	CCDS9956.1																																																																																				0.692	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		12	11	0	0	0	1	0	12	11				
LPHN2	23266	broad.mit.edu	37	1	82417649	82417649	+	Silent	SNP	C	C	T	rs201068501		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82417649C>T	ENST00000370728.1	+	11	2250	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	LPHN2_ENST00000370723.1_Silent_p.S535S|LPHN2_ENST00000370713.1_Silent_p.S535S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.S535S|LPHN2_ENST00000271029.4_Silent_p.S535S|LPHN2_ENST00000370725.1_Silent_p.S535S|LPHN2_ENST00000394879.1_Silent_p.S535S|LPHN2_ENST00000370715.1_Silent_p.S535S|LPHN2_ENST00000359929.3_Silent_p.S535S|LPHN2_ENST00000319517.6_Silent_p.S535S|LPHN2_ENST00000370721.1_Silent_p.S473S|LPHN2_ENST00000335786.5_Silent_p.S535S|LPHN2_ENST00000370727.1_Silent_p.S535S|LPHN2_ENST00000370717.2_Silent_p.S535S			O95490	LPHN2_HUMAN	latrophilin 2	535					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGATCAGAAGCGGAGAAAATG	0.363																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1603-1605)agC>agT		latrophilin 2		T		0,4406		0,0,2203	91.0	81.0	85.0		1605	2.5	1.0	1		85	1,8599	818.5+/-406.9	0,1,4299	no	coding-synonymous	LPHN2	NM_012302.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		535/1404	82417649	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82417649C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1605C>T	1.37:g.82417649C>T						LPHN2_ENST00000370727.1_Silent_p.S535S|LPHN2_ENST00000370715.1_Silent_p.S535S|LPHN2_ENST00000359929.3_Silent_p.S535S|LPHN2_ENST00000370717.2_Silent_p.S535S|LPHN2_ENST00000370713.1_Silent_p.S535S|LPHN2_ENST00000370725.1_Silent_p.S535S|LPHN2_ENST00000319517.6_Silent_p.S535S|LPHN2_ENST00000271029.4_Silent_p.S535S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.S535S|LPHN2_ENST00000335786.5_Silent_p.S535S|LPHN2_ENST00000370721.1_Silent_p.S473S|LPHN2_ENST00000370723.1_Silent_p.S535S|LPHN2_ENST00000394879.1_Silent_p.S535S	p.S535S			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	11	2250	+			535					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.1605C>T		.	.	.	.	.	.	.	.	.	.	T	3.381	-0.126447	0.06795	0.0	1.16E-4	ENSG00000117114	ENST00000449420	.	.	.	6.07	2.54	0.30619	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32771	-0.9894	4	.	.	.	.	9.9683	0.41738	0.0:0.2487:0.0:0.7513	.	.	.	.	V	403	.	.	A	+	2	0	LPHN2	82190237	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	1.083000	0.30815	-0.034000	0.13713	-0.982000	0.02568	GCG		0.363	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		5	80	0	0	0	1	0	5	80				
RFX5	5993	broad.mit.edu	37	1	151315446	151315446	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151315446G>T	ENST00000290524.4	-	11	1245	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	RFX5_ENST00000452513.2_Missense_Mutation_p.S316Y|RFX5_ENST00000452671.2_Missense_Mutation_p.S356Y|RFX5_ENST00000368870.2_Missense_Mutation_p.S356Y|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	356					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GGCACCTGAAGAAAGCCTGGG	0.587																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1066-1068)tCt>tAt		regulatory factor X, 5 (influences HLA class II expression)							34.0	41.0	39.0					1																	151315446		2201	4298	6499	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315446G>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1067C>A	1.37:g.151315446G>T	ENSP00000290524:p.Ser356Tyr					RFX5_ENST00000368870.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452671.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452513.2_Missense_Mutation_p.S316Y	p.S356Y	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1245	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		356					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.1067C>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207553	0.39003	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.29;0.27	5.0	5.0	0.66597	.	0.651255	0.14994	N	0.286510	T	0.37625	0.1010	L	0.36672	1.1	0.09310	N	1	P;P	0.44090	0.826;0.651	B;B	0.41723	0.365;0.259	T	0.37033	-0.9723	10	0.62326	D	0.03	0.0469	15.1486	0.72677	0.0:0.0:1.0:0.0	.	316;356	B7Z848;P48382	.;RFX5_HUMAN	Y	356;356;356;316;356	ENSP00000290524:S356Y;ENSP00000357864:S356Y;ENSP00000389130:S356Y;ENSP00000398388:S316Y;ENSP00000376502:S356Y	ENSP00000290524:S356Y	S	-	2	0	RFX5	149582070	0.576000	0.26700	0.371000	0.25978	0.667000	0.39255	2.421000	0.44688	2.596000	0.87737	0.591000	0.81541	TCT		0.587	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		34	32	1	0	7.11191e-15	1	9.09819e-15	34	32				
KLHL9	55958	broad.mit.edu	37	9	21334319	21334319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21334319G>A	ENST00000359039.4	-	1	1060	c.540C>T	c.(538-540)aaC>aaT	p.N180N	KLHL9_ENST00000537938.1_Silent_p.N112N			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	180	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGCAGGAAAGTTCTTCAGGA	0.378																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(538-540)aaC>aaT		kelch-like family member 9							43.0	48.0	46.0					9																	21334319		2202	4300	6502	SO:0001819	synonymous_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334319G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.540C>T	9.37:g.21334319G>A						KLHL9_ENST00000537938.1_Silent_p.N112N	p.N180N			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1060	-			180			BACK.		Q8TCQ2	Silent	SNP	ENST00000359039.4	37	c.540C>T	CCDS6503.1																																																																																				0.378	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		21	33	0	0	0	1	0	21	33				
USP32	84669	broad.mit.edu	37	17	58267980	58267980	+	Missense_Mutation	SNP	C	C	T	rs145667783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58267980C>T	ENST00000300896.4	-	29	3780	c.3586G>A	c.(3586-3588)Gct>Act	p.A1196T	USP32_ENST00000592339.1_Missense_Mutation_p.A866T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1196	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAATCCACAGCGATATAGGCA	0.423																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3586-3588)Gct>Act		ubiquitin specific peptidase 32		C	THR/ALA	0,4406		0,0,2203	140.0	142.0	142.0		3586	5.2	1.0	17	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP32	NM_032582.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1196/1605	58267980	1,13005	2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58267980C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3586G>A	17.37:g.58267980C>T	ENSP00000300896:p.Ala1196Thr					USP32_ENST00000592339.1_Missense_Mutation_p.A866T	p.A1196T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		29	3780	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1196					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3586G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246238	0.95272	0.0	1.16E-4	ENSG00000170832	ENST00000300896	T	0.54479	0.57	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.45051	1.395	0.80722	D	1	D	0.69078	0.997	P	0.54629	0.757	T	0.61108	-0.7129	10	0.49607	T	0.09	.	19.1921	0.93671	0.0:1.0:0.0:0.0	.	1196	Q8NFA0	UBP32_HUMAN	T	1196	ENSP00000300896:A1196T	ENSP00000300896:A1196T	A	-	1	0	USP32	55622762	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.739000	0.84976	2.595000	0.87683	0.650000	0.86243	GCT		0.423	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		14	129	0	0	0	1	0	14	129				
ZNF41	7592	broad.mit.edu	37	X	47307380	47307380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47307380G>A	ENST00000377065.4	-	5	2428	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.H607Y|ZNF41_ENST00000313116.7_Missense_Mutation_p.H597Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCTCTGATGCACGCTTAGT	0.453																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1789-1791)Cat>Tat		zinc finger protein 41							92.0	72.0	79.0					X																	47307380		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307380G>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1789C>T	X.37:g.47307380G>A	ENSP00000366265:p.His597Tyr					ZNF41_ENST00000397050.2_Missense_Mutation_p.H607Y|ZNF41_ENST00000313116.7_Missense_Mutation_p.H597Y	p.H597Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2428	-		all_lung(315;0.000129)	639					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1789C>T	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938888	0.73557	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.86769	-2.17;-2.17;-2.17	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36374	N	0.002634	D	0.95182	0.8438	H	0.95950	3.745	0.35846	D	0.826397	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.993;0.998;0.999	D	0.98321	1.0528	10	0.87932	D	0	.	13.0759	0.59087	0.0:0.0:1.0:0.0	.	597;599;607;631;639	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	597;597;607	ENSP00000315173:H597Y;ENSP00000366265:H597Y;ENSP00000380243:H607Y	ENSP00000315173:H597Y	H	-	1	0	ZNF41	47192324	1.000000	0.71417	0.939000	0.37840	0.982000	0.71751	6.627000	0.74258	2.246000	0.74042	0.600000	0.82982	CAT		0.453	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		5	40	0	0	0	1	0	5	40				
MIR509-1	574514	broad.mit.edu	37	X	146341179	146341179	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:146341179T>C	ENST00000385265.1	-	0	94				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		CATGCAGTACTCTACCCACAG	0.453																																						ENST00000390725.1																			0																				192.0	156.0	167.0					X																	146341179		1568	3580	5148			0							g.chrX:146341179T>C			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146341179T>C								NR_030629.1						0	65	-									RNA	SNP	ENST00000385265.1	37																																																																																						0.453	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236		39	92	0	0	0	1	0	39	92				
ESYT1	23344	broad.mit.edu	37	12	56530574	56530574	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56530574C>A	ENST00000394048.5	+	16	1943	c.1679C>A	c.(1678-1680)cCt>cAt	p.P560H	ESYT1_ENST00000541590.1_Missense_Mutation_p.P570H|ESYT1_ENST00000267113.4_Missense_Mutation_p.P570H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	560					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGACGCTGCCTCTGGCCCGC	0.552																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1678-1680)cCt>cAt		extended synaptotagmin-like protein 1							58.0	53.0	55.0					12																	56530574		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56530574C>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1679C>A	12.37:g.56530574C>A	ENSP00000377612:p.Pro560His					ESYT1_ENST00000541590.1_Missense_Mutation_p.P570H|ESYT1_ENST00000267113.4_Missense_Mutation_p.P570H	p.P560H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			16	1943	+			560					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1679C>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958783	0.53400	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.74209	-0.82;-0.82;-0.82	4.95	4.95	0.65309	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.80616	2.505	0.80722	D	1	D;B	0.54772	0.968;0.128	P;B	0.48770	0.589;0.045	T	0.82486	-0.0433	10	0.56958	D	0.05	-12.5658	13.0274	0.58823	0.1619:0.8381:0.0:0.0	.	570;560	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	560;514;570;570	ENSP00000377612:P560H;ENSP00000267113:P570H;ENSP00000445952:P570H	ENSP00000267113:P570H	P	+	2	0	ESYT1	54816841	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.124000	0.50461	2.460000	0.83146	0.655000	0.94253	CCT		0.552	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	36	1	0	0.217242	1	0.218821	5	36				
KDM2B	84678	broad.mit.edu	37	12	121882002	121882002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121882002C>T	ENST00000377071.4	-	16	2336	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	KDM2B_ENST00000377069.4_Missense_Mutation_p.R724Q|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R123Q	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	755					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGTTGTCCCGGTTCATCTT	0.602											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2170-2172)cGg>cAg		lysine (K)-specific demethylase 2B							68.0	70.0	70.0					12																	121882002		2014	4176	6190	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121882002C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2264G>A	12.37:g.121882002C>T	ENSP00000366271:p.Arg755Gln		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.R755Q|KDM2B_ENST00000542973.1_Missense_Mutation_p.R123Q	p.R724Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			16	2577	-			755					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2171G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202265	0.94997	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24151	2.16;2.47;1.87	5.95	5.06	0.68205	.	0.000000	0.47455	D	0.000240	T	0.21631	0.0521	L	0.53249	1.67	0.80722	D	1	B;B;P;P	0.40107	0.052;0.246;0.703;0.482	B;B;B;B	0.27380	0.006;0.023;0.079;0.023	T	0.03364	-1.1044	10	0.30078	T	0.28	-14.121	14.8966	0.70649	0.0:0.9316:0.0:0.0684	.	195;755;724;198	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	Q	755;123;724;755;198;758	ENSP00000437821:R123Q;ENSP00000366269:R724Q;ENSP00000366271:R755Q	ENSP00000261824:R758Q	R	-	2	0	KDM2B	120366385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.052000	0.71080	1.519000	0.48950	0.655000	0.94253	CGG		0.602	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		24	55	0	0	0	1	0	24	55				
PLCE1	51196	broad.mit.edu	37	10	96068407	96068407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96068407G>A	ENST00000371380.3	+	26	6189	c.5954G>A	c.(5953-5955)aGc>aAc	p.S1985N	PLCE1_ENST00000260766.3_Missense_Mutation_p.S1985N|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1677N|PLCE1_ENST00000371375.1_Missense_Mutation_p.S1677N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1985					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCATTAACAGCAGAAGGATG	0.393																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5953-5955)aGc>aAc		phospholipase C, epsilon 1							134.0	125.0	127.0					10																	96068407		1852	4090	5942	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96068407G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5954G>A	10.37:g.96068407G>A	ENSP00000360431:p.Ser1985Asn					PLCE1_ENST00000371380.2_Missense_Mutation_p.S1985N|PLCE1_ENST00000371375.1_Missense_Mutation_p.S1677N|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1677N	p.S1985N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			27	6588	+		Colorectal(252;0.0458)	1985					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.5954G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072081	0.93950	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.27720	1.65;1.65;1.67;1.67	5.83	5.83	0.93111	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	L	0.61218	1.895	0.51012	D	0.999906	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.99;0.995;0.967	T	0.54827	-0.8235	10	0.72032	D	0.01	.	19.7322	0.96188	0.0:0.0:1.0:0.0	.	1969;1677;1985	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1985;1985;1677;1677	ENSP00000260766:S1985N;ENSP00000360431:S1985N;ENSP00000360438:S1677N;ENSP00000360426:S1677N	ENSP00000260766:S1985N	S	+	2	0	PLCE1	96058397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.686000	0.91250	2.763000	0.94921	0.561000	0.74099	AGC		0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		6	130	0	0	0	1	0	6	130				
MYBPC1	4604	broad.mit.edu	37	12	102036200	102036200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102036200G>T	ENST00000550270.1	+	9	594	c.594G>T	c.(592-594)gaG>gaT	p.E198D	MYBPC1_ENST00000441232.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E185D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E184D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E179D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E186D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E211D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E99D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E172D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E223D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	198					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CGGTTAGGGAGGTGAAGCAGC	0.498																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(631-633)gaG>gaT		myosin binding protein C, slow type							105.0	92.0	97.0					12																	102036200		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102036200G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.594G>T	12.37:g.102036200G>T	ENSP00000449702:p.Glu198Asp					MYBPC1_ENST00000551300.1_Missense_Mutation_p.E99D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E179D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E184D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E185D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E172D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E186D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E198D	p.E211D			Q00872	MYPC1_HUMAN			10	733	+			198					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.633G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469302	0.63625	.	.	ENSG00000196091	ENST00000550514;ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.92805	-3.11;0.35;0.35;0.34;0.36;0.35;0.34;0.34;0.35;0.37;0.33;0.29;0.34;0.34;0.37;0.36	5.52	2.25	0.28309	.	0.000000	0.47093	D	0.000242	D	0.89584	0.6757	N	0.16790	0.44	0.42957	D	0.99439	P;D;P;P;P;P;D;P;B;D;D	0.54047	0.902;0.964;0.786;0.936;0.936;0.891;0.962;0.936;0.004;0.962;0.962	B;P;P;P;P;P;P;P;B;P;P	0.60789	0.377;0.634;0.549;0.634;0.696;0.55;0.799;0.696;0.034;0.846;0.879	D	0.86083	0.1545	10	0.27082	T	0.32	.	11.1985	0.48728	0.2882:0.0:0.7118:0.0	.	179;186;198;198;185;172;198;198;223;223;211	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	D	99;172;198;198;198;185;184;223;211;198;223;198;179;186;223;99;198	ENSP00000447404:E99D;ENSP00000448175:E172D;ENSP00000400908:E198D;ENSP00000388989:E198D;ENSP00000353822:E198D;ENSP00000376665:E185D;ENSP00000447362:E184D;ENSP00000354845:E223D;ENSP00000447660:E211D;ENSP00000447900:E198D;ENSP00000440034:E198D;ENSP00000446128:E179D;ENSP00000442847:E186D;ENSP00000354849:E223D;ENSP00000447116:E99D;ENSP00000449702:E198D	ENSP00000353822:E198D	E	+	3	2	MYBPC1	100560331	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.570000	0.45981	0.692000	0.31613	0.557000	0.71058	GAG		0.498	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			8	22	1	0	0.00621372	1	0.00652201	8	22				
UBAP2	55833	broad.mit.edu	37	9	33926987	33926987	+	Splice_Site	SNP	C	C	T	rs373015894		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33926987C>T	ENST00000379238.1	-	21	2580	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P	UBAP2_ENST00000449054.1_Splice_Site_p.P821P|UBAP2_ENST00000379239.4_Splice_Site_p.P554P|UBAP2_ENST00000360802.1_Splice_Site_p.P821P|UBAP2_ENST00000379235.1_Splice_Site_p.P60P|UBAP2_ENST00000539807.1_Splice_Site_p.P576P					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATACACTCACCGGGTAGGCAG	0.647																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.e21+1		ubiquitin associated protein 2		C		0,4406		0,0,2203	42.0	42.0	42.0		2463	3.8	1.0	9		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	UBAP2	NM_018449.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		821/1120	33926987	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55833							g.chr9:33926987C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2463+1G>A	9.37:g.33926987C>T						UBAP2_ENST00000360802.1_Splice_Site_p.P821_splice|UBAP2_ENST00000379239.4_Splice_Site_p.P554_splice|UBAP2_ENST00000539807.1_Splice_Site_p.P576_splice|UBAP2_ENST00000379235.1_Splice_Site_p.P60_splice|UBAP2_ENST00000449054.1_Splice_Site_p.P821_splice	p.P821_splice			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	21	2580	-			821						Splice_Site	SNP	ENST00000379238.1	37	c.2463_splice	CCDS6547.1																																																																																				0.647	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	Silent	5	28	0	0	0	1	0	5	28				
SLC4A3	6508	broad.mit.edu	37	2	220504340	220504340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220504340G>A	ENST00000358055.3	+	20	3672	c.3160G>A	c.(3160-3162)Gtc>Atc	p.V1054I	SLC4A3_ENST00000373760.2_Missense_Mutation_p.V1054I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V1081I|SLC4A3_ENST00000317151.3_Missense_Mutation_p.V1054I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V1081I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1054	Membrane (anion exchange).			V -> I (in Ref. 3; AAN34939). {ECO:0000305}.	bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.V1081I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCGCTCCGTCACCCATGT	0.652																																						ENST00000358055.3																			1	Substitution - Missense(1)	p.V1081I(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3160-3162)Gtc>Atc		solute carrier family 4 (anion exchanger), member 3							67.0	61.0	63.0					2																	220504340		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504340G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3160G>A	2.37:g.220504340G>A	ENSP00000350756:p.Val1054Ile					SLC4A3_ENST00000373760.2_Missense_Mutation_p.V1054I|SLC4A3_ENST00000317151.3_Missense_Mutation_p.V1054I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V1081I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V1081I	p.V1054I			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3672	+		Renal(207;0.0183)	1054	V -> I (in Ref. 3; AAN34939).		Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3160G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240287	0.58995	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	4.38	4.38	0.52667	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	L	0.28400	0.85	0.80722	D	1	B;P;P	0.45078	0.314;0.85;0.848	B;P;P	0.44647	0.107;0.452;0.456	T	0.68002	-0.5524	10	0.33141	T	0.24	.	12.0724	0.53624	0.0841:0.0:0.9159:0.0	.	758;1054;1081	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	I	1054;1054;1081;1081;314;1054	ENSP00000350756:V1054I;ENSP00000362865:V1054I;ENSP00000273063:V1081I;ENSP00000362867:V1081I;ENSP00000314006:V1054I	ENSP00000273063:V1081I	V	+	1	0	SLC4A3	220212584	1.000000	0.71417	0.947000	0.38551	0.707000	0.40811	6.338000	0.72963	2.431000	0.82371	0.539000	0.68188	GTC		0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		25	28	0	0	0	1	0	25	28				
TJP2	9414	broad.mit.edu	37	9	71851948	71851948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71851948G>T	ENST00000377245.4	+	14	2283	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M	TJP2_ENST00000453658.2_Missense_Mutation_p.R669M|TJP2_ENST00000535702.1_Missense_Mutation_p.R696M|TJP2_ENST00000265384.7_Missense_Mutation_p.R692M|TJP2_ENST00000348208.4_Missense_Mutation_p.R692M|TJP2_ENST00000539225.1_Missense_Mutation_p.R723M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	692	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.R692M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CGTGGCCAGAGGTCTGGGGTG	0.532																																						ENST00000377245.4																			1	Substitution - Missense(1)	p.R692M(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2074-2076)aGg>aTg		tight junction protein 2							153.0	167.0	162.0					9																	71851948		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851948G>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2075G>T	9.37:g.71851948G>T	ENSP00000366453:p.Arg692Met					TJP2_ENST00000453658.2_Missense_Mutation_p.R669M|TJP2_ENST00000265384.7_Missense_Mutation_p.R692M|TJP2_ENST00000539225.1_Missense_Mutation_p.R723M|TJP2_ENST00000535702.1_Missense_Mutation_p.R696M|TJP2_ENST00000348208.4_Missense_Mutation_p.R692M	p.R692M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			14	2283	+			692			Guanylate kinase-like.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2075G>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328879	0.81690	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.12774	2.68;2.65;2.68;2.68;2.69;2.7	5.77	4.87	0.63330	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;0.999;0.999	T	0.50591	-0.8810	10	0.87932	D	0	.	15.0487	0.71846	0.0681:0.0:0.9319:0.0	.	723;696;692;692;692	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	669;692;692;692;696;723	ENSP00000392178:R669M;ENSP00000366453:R692M;ENSP00000345893:R692M;ENSP00000265384:R692M;ENSP00000442090:R696M;ENSP00000438262:R723M	ENSP00000265384:R692M	R	+	2	0	TJP2	71041768	1.000000	0.71417	0.924000	0.36721	0.750000	0.42670	7.951000	0.87819	1.589000	0.49982	0.650000	0.86243	AGG		0.532	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		5	181	1	0	0.00116845	1	0.00124821	5	181				
PNISR	25957	broad.mit.edu	37	6	99848985	99848985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99848985G>A	ENST00000369239.5	-	12	2053	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	PNISR_ENST00000438806.1_Missense_Mutation_p.R617C	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	617						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTACTTCTACGTCTCTCTCGG	0.443																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1849-1851)Cgt>Tgt		PNN-interacting serine/arginine-rich protein							115.0	102.0	106.0					6																	99848985		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99848985G>A	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1849C>T	6.37:g.99848985G>A	ENSP00000358242:p.Arg617Cys					PNISR_ENST00000438806.1_Missense_Mutation_p.R617C	p.R617C	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			12	2053	-			617					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1849C>T	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756889	0.49362	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.49	5.49	0.81192	.	0.044093	0.85682	D	0.000000	T	0.28366	0.0701	L	0.32530	0.975	0.80722	D	1	P	0.52061	0.95	B	0.39876	0.312	T	0.14337	-1.0476	9	0.46703	T	0.11	.	12.5794	0.56381	0.0:0.0:0.7924:0.2076	.	617	Q8TF01	PNISR_HUMAN	C	617	.	ENSP00000358242:R617C	R	-	1	0	PNISR	99955706	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.136000	0.50554	2.750000	0.94351	0.579000	0.79373	CGT		0.443	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		40	51	0	0	0	1	0	40	51				
TMEM131	23505	broad.mit.edu	37	2	98375500	98375500	+	Silent	SNP	G	G	A	rs370135727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375500G>A	ENST00000186436.5	-	40	5451	c.5223C>T	c.(5221-5223)ctC>ctT	p.L1741L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1741	Ser-rich.					integral component of membrane (GO:0016021)		p.L1628L(1)|p.L1741L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGATAATCCGAGTTTGCTGA	0.463																																						ENST00000186436.5																			2	Substitution - coding silent(2)	p.L1628L(1)|p.L1741L(1)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5221-5223)ctC>ctT		transmembrane protein 131		G		0,3972		0,0,1986	92.0	97.0	95.0		5223	-5.8	0.6	2		95	1,8329		0,1,4164	no	coding-synonymous	TMEM131	NM_015348.1		0,1,6150	AA,AG,GG		0.012,0.0,0.0081		1741/1884	98375500	1,12301	1986	4165	6151	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98375500G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5223C>T	2.37:g.98375500G>A							p.L1741L	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			40	5451	-			1741			Ser-rich.			Silent	SNP	ENST00000186436.5	37	c.5223C>T	CCDS46368.1																																																																																				0.463	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		27	56	0	0	0	1	0	27	56				
MBNL3	55796	broad.mit.edu	37	X	131540345	131540345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131540345G>A	ENST00000370853.3	-	2	331	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	MBNL3_ENST00000394311.2_5'UTR|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370857.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370839.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370849.3_Missense_Mutation_p.R35W|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000538204.1_Missense_Mutation_p.R35W|RAP2C-AS1_ENST00000421483.2_RNA	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	85					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AGATTGTTCCGCCCATTAATC	0.483																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(103-105)Cgg>Tgg		muscleblind-like splicing regulator 3							154.0	111.0	126.0					X																	131540345		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131540345G>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.253C>T	X.37:g.131540345G>A	ENSP00000359890:p.Arg85Trp					MBNL3_ENST00000394311.2_5'UTR|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370849.3_Missense_Mutation_p.R35W|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370857.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370853.3_Missense_Mutation_p.R85W	p.R35W	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			2	168	-	Acute lymphoblastic leukemia(192;0.000127)		85					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.103C>T	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974237	0.34848	.	.	ENSG00000076770	ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.75	2.74	0.32292	.	0.082428	0.48286	N	0.000200	T	0.68467	0.3004	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.99;0.976	T	0.67538	-0.5645	10	0.87932	D	0	-4.8383	8.5097	0.33208	0.0713:0.0:0.4489:0.4798	.	35;85;85;35	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3	.;MBNL3_HUMAN;.;.	W	35;85;85;35;85	ENSP00000439618:R35W;ENSP00000359894:R85W;ENSP00000359890:R85W;ENSP00000359886:R35W;ENSP00000359876:R85W	ENSP00000359876:R85W	R	-	1	2	MBNL3	131368026	0.989000	0.36119	0.083000	0.20561	0.055000	0.15305	2.080000	0.41586	0.095000	0.17434	-0.169000	0.13324	CGG		0.483	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		5	98	0	0	0	1	0	5	98				
ADRBK2	157	broad.mit.edu	37	22	26114289	26114289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26114289C>T	ENST00000324198.6	+	19	1924	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCAGTGGCAGCGTCGCTATTT	0.488																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1732-1734)Cgt>Tgt		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						131.0	131.0	131.0					22																	26114289		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26114289C>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1732C>T	22.37:g.26114289C>T	ENSP00000317578:p.Arg578Cys						p.R578C	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			19	1924	+			578			PH.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1732C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077326	0.76415	.	.	ENSG00000100077	ENST00000324198	T	0.77877	-1.13	5.3	3.15	0.36227	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.78669	-0.2114	10	0.87932	D	0	-11.4691	9.2694	0.37661	0.1492:0.7747:0.0:0.0761	.	578	P35626	ARBK2_HUMAN	C	578	ENSP00000317578:R578C	ENSP00000317578:R578C	R	+	1	0	ADRBK2	24444289	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	4.164000	0.58190	0.678000	0.31325	-0.136000	0.14681	CGT		0.488	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		50	63	0	0	0	1	0	50	63				
TSNARE1	203062	broad.mit.edu	37	8	143310941	143310941	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143310941C>A	ENST00000307180.3	-	13	1564		c.e13-1		TSNARE1_ENST00000524325.1_Splice_Site|TSNARE1_ENST00000520166.1_Splice_Site	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1						intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTCTGGAGCTGGGAGAGAG	0.537																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.e13-1		t-SNARE domain containing 1							120.0	89.0	100.0					8																	143310941		2203	4300	6503	SO:0001630	splice_region_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310941C>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1447-1G>T	8.37:g.143310941C>A						TSNARE1_ENST00000307180.3_Splice_Site|TSNARE1_ENST00000520166.1_Splice_Site				Q96NA8	TSNA1_HUMAN			13	1619	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)							B7ZLB0|Q14D03	Splice_Site	SNP	ENST00000307180.3	37		CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	6.904	0.536443	0.13188	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	.	.	.	2.42	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9504	0.47325	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSNARE1	143308848	0.993000	0.37304	0.712000	0.30502	0.154000	0.21943	1.098000	0.31000	1.300000	0.44818	0.457000	0.33378	.		0.537	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	Intron	11	20	1	0	3.86212e-05	1	4.30401e-05	11	20				
MAP3K10	4294	broad.mit.edu	37	19	40715068	40715068	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40715068C>T	ENST00000253055.3	+	6	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	498					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1492-1494)tcC>tcT		mitogen-activated protein kinase kinase kinase 10							81.0	91.0	88.0					19																	40715068		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40715068C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1494C>T	19.37:g.40715068C>T							p.S498S	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			6	1782	+			498					Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.1494C>T	CCDS12549.1																																																																																				0.562	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		30	56	0	0	0	1	0	30	56				
NR1H2	7376	broad.mit.edu	37	19	50881013	50881013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50881013G>A	ENST00000253727.5	+	4	302	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	NR1H2_ENST00000598168.1_Missense_Mutation_p.A23T|NR1H2_ENST00000593926.1_Missense_Mutation_p.A23T|NR1H2_ENST00000411902.2_Missense_Mutation_p.A23T|NR1H2_ENST00000599105.1_Missense_Mutation_p.A23T|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	23					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCAGCCTGGCGCCCCTTCTTC	0.632																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(67-69)Gcc>Acc		nuclear receptor subfamily 1, group H, member 2							49.0	52.0	51.0					19																	50881013		1877	4108	5985	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881013G>A	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.67G>A	19.37:g.50881013G>A	ENSP00000253727:p.Ala23Thr					NR1H2_ENST00000599105.1_Missense_Mutation_p.A23T|NR1H2_ENST00000598168.1_Missense_Mutation_p.A23T|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Missense_Mutation_p.A23T|NR1H2_ENST00000593926.1_Missense_Mutation_p.A23T	p.A23T	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	302	+		all_neural(266;0.057)	23					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.67G>A	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713487	0.30413	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	T;T	0.38722	1.12;1.12	4.43	-0.397	0.12423	.	1.567630	0.04003	N	0.296809	T	0.18718	0.0449	N	0.03608	-0.345	0.25553	N	0.987069	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.19160	-1.0314	10	0.08837	T	0.75	.	7.2199	0.25981	0.7194:0.0:0.2806:0.0	.	23;23;23	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	T	23	ENSP00000253727:A23T;ENSP00000396151:A23T	ENSP00000253727:A23T	A	+	1	0	NR1H2	55572825	0.001000	0.12720	0.214000	0.23707	0.986000	0.74619	0.280000	0.18790	-0.036000	0.13669	0.561000	0.74099	GCC		0.632	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			12	20	0	0	0	1	0	12	20				
ZNF766	90321	broad.mit.edu	37	19	52793382	52793382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52793382C>T	ENST00000439461.1	+	4	381	c.338C>T	c.(337-339)aCc>aTc	p.T113I	ZNF766_ENST00000593612.1_Missense_Mutation_p.T128I|ZNF766_ENST00000359102.4_Missense_Mutation_p.T128I|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CTTGGATTAACCTTTCAGTTA	0.393																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(337-339)aCc>aTc		zinc finger protein 766							81.0	84.0	83.0					19																	52793382		2008	4206	6214	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793382C>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.338C>T	19.37:g.52793382C>T	ENSP00000409652:p.Thr113Ile					CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.T128I|ZNF766_ENST00000359102.4_Missense_Mutation_p.T128I|ZNF766_ENST00000599581.1_3'UTR	p.T113I	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	381	+			113					B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.338C>T	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	C	6.662	0.490746	0.12702	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.06294	3.32;3.58	2.46	0.095	0.14483	.	.	.	.	.	T	0.05090	0.0136	L	0.33753	1.03	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.14578	0.011;0.005	T	0.38802	-0.9644	9	0.59425	D	0.04	.	4.7384	0.13001	0.1436:0.2384:0.6181:0.0	.	128;113	G3XAE0;Q5HY98	.;ZN766_HUMAN	I	113;128	ENSP00000409652:T113I;ENSP00000352005:T128I	ENSP00000352005:T128I	T	+	2	0	ZNF766	57485194	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.041000	0.03542	-0.032000	0.13758	-1.105000	0.02106	ACC		0.393	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		31	32	0	0	0	1	0	31	32				
PLEKHO1	51177	broad.mit.edu	37	1	150131488	150131488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150131488C>T	ENST00000369124.4	+	6	1278	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.R300*|PLEKHO1_ENST00000369126.1_Nonsense_Mutation_p.R151*	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	334	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGGGAAGCGAAAGGCCAA	0.617																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(1000-1002)Cga>Tga		pleckstrin homology domain containing, family O member 1							54.0	59.0	57.0					1																	150131488		2203	4300	6503	SO:0001587	stop_gained	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131488C>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1000C>T	1.37:g.150131488C>T	ENSP00000358120:p.Arg334*					PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.R300*|PLEKHO1_ENST00000369126.1_Nonsense_Mutation_p.R151*	p.R334*	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1278	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		334			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Nonsense_Mutation	SNP	ENST00000369124.4	37	c.1000C>T	CCDS945.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908399	0.72868	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	.	.	.	5.24	4.32	0.51571	.	0.267018	0.35708	N	0.003033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5089	7.024	0.24930	0.256:0.6597:0.0:0.0843	.	.	.	.	X	151;300;334;214	.	ENSP00000025469:R300X	R	+	1	2	PLEKHO1	148398112	0.974000	0.33945	1.000000	0.80357	0.990000	0.78478	0.719000	0.25881	1.414000	0.47017	0.655000	0.94253	CGA		0.617	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		23	57	0	0	0	1	0	23	57				
TNKS1BP1	85456	broad.mit.edu	37	11	57077836	57077836	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077836C>A	ENST00000532437.1	-	5	2660	c.2349G>T	c.(2347-2349)ggG>ggT	p.G783G	TNKS1BP1_ENST00000358252.3_Silent_p.G783G|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	783	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.G783G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTCCCTTCCCCTGCTCCTT	0.627																																						ENST00000532437.1																			1	Substitution - coding silent(1)	p.G783G(1)	skin(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2347-2349)ggG>ggT		tankyrase 1 binding protein 1, 182kDa							112.0	89.0	97.0					11																	57077836		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077836C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2349G>T	11.37:g.57077836C>A						TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.G783G	p.G783G			Q9C0C2	TB182_HUMAN			5	2660	-		all_epithelial(135;0.21)	783			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.2349G>T	CCDS7951.1																																																																																				0.627	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		10	77	1	0	1.58986e-06	1	1.84011e-06	10	77				
MRPL51	51258	broad.mit.edu	37	12	6601555	6601555	+	Missense_Mutation	SNP	C	C	T	rs377340253		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6601555C>T	ENST00000229238.3	-	3	730	c.269G>A	c.(268-270)cGt>cAt	p.R90H	NCAPD2_ENST00000545962.1_5'Flank|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	90					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TCGGATACAACGTTGCAATTC	0.438																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(268-270)cGt>cAt		mitochondrial ribosomal protein L51		C	HIS/ARG	0,4406		0,0,2203	337.0	334.0	335.0		269	5.3	1.0	12		335	1,8599	1.2+/-3.3	0,1,4299	no	missense	MRPL51	NM_016497.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	90/129	6601555	1,13005	2203	4300	6503	SO:0001583	missense	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6601555C>T	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.269G>A	12.37:g.6601555C>T	ENSP00000229238:p.Arg90His					MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	p.R90H	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			3	730	-			90					Q96Q57|Q9BQ36|Q9P0N7	Missense_Mutation	SNP	ENST00000229238.3	37	c.269G>A	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212095	0.79240	0.0	1.16E-4	ENSG00000111639	ENST00000229238	T	0.51817	0.69	5.32	5.32	0.75619	.	0.048858	0.85682	N	0.000000	T	0.68650	0.3024	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71101	-0.4690	10	0.66056	D	0.02	-16.6109	18.5775	0.91161	0.0:1.0:0.0:0.0	.	90	Q4U2R6	RM51_HUMAN	H	90	ENSP00000229238:R90H	ENSP00000229238:R90H	R	-	2	0	MRPL51	6471816	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.448000	0.80631	2.478000	0.83669	0.462000	0.41574	CGT		0.438	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		128	173	0	0	0	1	0	128	173				
SLCO1B3	28234	broad.mit.edu	37	12	21015771	21015771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21015771T>C	ENST00000381545.3	+	8	929	c.710T>C	c.(709-711)aTt>aCt	p.I237T	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.I237T|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.I237T|LST3_ENST00000540229.1_Missense_Mutation_p.I237T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	237					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TACGTGGATATTGGATATGTA	0.358																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(709-711)aTt>aCt		solute carrier organic anion transporter family, member 1B3							159.0	135.0	143.0					12																	21015771		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015771T>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.710T>C	12.37:g.21015771T>C	ENSP00000370956:p.Ile237Thr					LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.I237T|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.I237T|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.I237T	p.I237T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			8	929	+	Esophageal squamous(101;0.149)		237					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.710T>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.388854	0.42308	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;1.09;0.29	3.9	2.74	0.32292	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.222920	0.46145	D	0.000310	T	0.60818	0.2298	M	0.61703	1.905	0.80722	D	1	P;B;B	0.50369	0.934;0.31;0.31	P;P;P	0.51701	0.677;0.531;0.531	T	0.57825	-0.7744	10	0.45353	T	0.12	.	8.7828	0.34802	0.0:0.0924:0.0:0.9076	.	237;237;237	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	T	237;237;237;237;61;237	ENSP00000442000:I237T;ENSP00000261196:I237T;ENSP00000370956:I237T;ENSP00000451758:I237T;ENSP00000443225:I61T;ENSP00000441269:I237T	ENSP00000441269:I237T	I	+	2	0	SLCO1B3;RP11-545J16.1	20907038	1.000000	0.71417	0.991000	0.47740	0.900000	0.52787	3.599000	0.54045	0.401000	0.25424	0.377000	0.23210	ATT		0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		22	48	0	0	0	1	0	22	48				
MC1R	4157	broad.mit.edu	37	16	89986192	89986192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89986192A>G	ENST00000555147.1	+	1	1906	c.526A>G	c.(526-528)Agc>Ggc	p.S176G	RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555427.1_Missense_Mutation_p.S176G|TUBB3_ENST00000556922.1_Missense_Mutation_p.S176G	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	176					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGTCGTCTTCAGCACGCTCTT	0.627									Melanoma, Familial Clustering of																													ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(526-528)Agc>Ggc		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)							56.0	59.0	58.0					16																	89986192		2189	4288	6477	SO:0001583	missense	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89986192A>G		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.526A>G	16.37:g.89986192A>G	ENSP00000451605:p.Ser176Gly					TUBB3_ENST00000556922.1_Missense_Mutation_p.S176G|MC1R_ENST00000555147.1_Missense_Mutation_p.S176G	p.S176G						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2829	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.526A>G	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.248175	0.22880	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.43294	0.95;0.95;0.95	4.68	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.379769	0.19001	N	0.125350	T	0.34978	0.0916	L	0.50847	1.595	0.34610	D	0.717467	B	0.18863	0.031	B	0.29785	0.107	T	0.34403	-0.9830	9	.	.	.	.	7.7366	0.28817	0.6468:0.0:0.3532:0.0	.	176	Q01726	MSHR_HUMAN	G	176	ENSP00000451760:S176G;ENSP00000451560:S176G;ENSP00000451605:S176G	.	S	+	1	0	MC1R;RP11-566K11.2	88513693	0.549000	0.26481	0.087000	0.20705	0.024000	0.10985	1.426000	0.34870	0.532000	0.28657	0.254000	0.18369	AGC		0.627	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		9	47	0	0	0	1	0	9	47				
SPZ1	84654	broad.mit.edu	37	5	79616311	79616311	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79616311G>T	ENST00000296739.4	+	1	522	c.277G>T	c.(277-279)Gca>Tca	p.A93S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	93					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATCACAGAAGCAAAAGAACT	0.318																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(277-279)Gca>Tca		spermatogenic leucine zipper 1							48.0	45.0	46.0					5																	79616311		1808	4070	5878	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616311G>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.277G>T	5.37:g.79616311G>T	ENSP00000369611:p.Ala93Ser						p.A93S	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	522	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	93					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.277G>T	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167221	0.57476	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.50001	0.76;1.31	3.68	-2.25	0.06888	.	1.074830	0.07209	N	0.858931	T	0.28962	0.0719	N	0.22421	0.69	0.09310	N	1	P	0.42908	0.793	B	0.40940	0.344	T	0.10200	-1.0640	10	0.05620	T	0.96	-22.8226	10.1944	0.43045	0.7459:0.0:0.2541:0.0	.	93	Q9BXG8	SPZ1_HUMAN	S	93	ENSP00000426530:A93S;ENSP00000369611:A93S	ENSP00000369611:A93S	A	+	1	0	SPZ1	79652067	0.000000	0.05858	0.000000	0.03702	0.889000	0.51656	-0.449000	0.06812	-0.525000	0.06391	0.563000	0.77884	GCA		0.318	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		20	41	1	0	3.8784e-16	1	4.99462e-16	20	41				
SPTLC1	10558	broad.mit.edu	37	9	94874795	94874795	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94874795A>G	ENST00000262554.2	-	2	112	c.107T>C	c.(106-108)aTc>aCc	p.I36T	SPTLC1_ENST00000337841.4_Missense_Mutation_p.I36T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	36					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AAGAAGTCTGATTATCCAGAG	0.343																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(106-108)aTc>aCc		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						76.0	79.0	78.0					9																	94874795		2203	4296	6499	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94874795A>G	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.107T>C	9.37:g.94874795A>G	ENSP00000262554:p.Ile36Thr					SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.I36T	p.I36T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			2	112	-			36					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.107T>C	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914430	0.72983	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95853	-3.83;-2.45	4.55	4.55	0.56014	.	0.158079	0.56097	D	0.000039	D	0.96049	0.8713	M	0.78049	2.395	0.58432	D	0.999999	P;P;P;P	0.52577	0.954;0.893;0.736;0.911	P;P;B;P	0.50754	0.572;0.645;0.354;0.649	D	0.96328	0.9241	10	0.72032	D	0.01	-12.3291	13.2899	0.60264	1.0:0.0:0.0:0.0	.	36;36;31;36	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	36	ENSP00000262554:I36T;ENSP00000337635:I36T	ENSP00000262554:I36T	I	-	2	0	SPTLC1	93914616	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.378000	0.79679	2.036000	0.60181	0.528000	0.53228	ATC		0.343	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		3	77	0	0	0	1	0	3	77				
PLXNB3	5365	broad.mit.edu	37	X	153037030	153037030	+	Missense_Mutation	SNP	G	G	A	rs144601801	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037030G>A	ENST00000361971.5	+	14	2551	c.2437G>A	c.(2437-2439)Ggc>Agc	p.G813S	PLXNB3_ENST00000538282.1_Missense_Mutation_p.G423S|PLXNB3_ENST00000538966.1_Missense_Mutation_p.G836S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.G466S	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	813	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGCTGACGGCCAGCCTGC	0.682																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2506-2508)Ggc>Agc		plexin B3		G	SER/GLY,SER/GLY	0,3809		0,0,0,1625,559	23.0	24.0	23.0		2506,2437	1.1	0.0	X	dbSNP_134	23	1,6709		0,0,1,2426,1857	no	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	56,56	0,0,1,4051,2416	AA,AG,A,GG,G		0.0149,0.0,0.0095	benign,benign	836/1933,813/1910	153037030	1,10518	2184	4284	6468	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153037030G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2437G>A	X.37:g.153037030G>A	ENSP00000355378:p.Gly813Ser					PLXNB3_ENST00000361971.5_Missense_Mutation_p.G813S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.G466S|PLXNB3_ENST00000538282.1_Missense_Mutation_p.G423S	p.G836S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			15	2777	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		813			IPT/TIG 1.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2506G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750251	0.15778	0.0	1.49E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.66280	5.34;5.31;4.73;-0.2	5.11	1.11	0.20524	.	0.489617	0.22515	N	0.059045	T	0.38852	0.1056	L	0.55834	1.745	0.09310	N	1	B;P;B;B	0.39094	0.007;0.659;0.007;0.007	B;B;B;B	0.19391	0.003;0.025;0.004;0.003	T	0.43130	-0.9410	10	0.06757	T	0.87	.	4.8146	0.13360	0.3037:0.1528:0.5435:0.0	.	466;495;836;813	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	S	836;813;466;423	ENSP00000442736:G836S;ENSP00000355378:G813S;ENSP00000445569:G466S;ENSP00000441919:G423S	ENSP00000355378:G813S	G	+	1	0	PLXNB3	152690224	0.000000	0.05858	0.027000	0.17364	0.143000	0.21401	-0.066000	0.11598	-0.229000	0.09854	0.529000	0.55759	GGC		0.682	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			8	14	0	0	0	1	0	8	14				
THSD7A	221981	broad.mit.edu	37	7	11676125	11676125	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11676125C>T	ENST00000423059.4	-	2	905	c.654G>A	c.(652-654)acG>acA	p.T218T	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	218	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACATGACGCGTCCGGTGCT	0.612										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(652-654)acG>acA		thrombospondin, type I, domain containing 7A							28.0	29.0	29.0					7																	11676125		2015	4189	6204	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676125C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.654G>A	7.37:g.11676125C>T		HNSCC(18;0.044)					p.T218T	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	905	-			218			TSP type-1 2.			Silent	SNP	ENST00000423059.4	37	c.654G>A	CCDS47543.1																																																																																				0.612	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		9	23	0	0	0	1	0	9	23				
MAP3K19	80122	broad.mit.edu	37	2	135745329	135745329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135745329C>T	ENST00000375845.3	-	7	1143	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.K258K|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.K388K	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	371							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AACTCTCATTCTTTCTTGATG	0.383																																						ENST00000375845.3																			0											c.(1111-1113)aaG>aaA		mitogen-activated protein kinase kinase kinase 19							68.0	65.0	66.0					2																	135745329		2203	4300	6503	SO:0001819	synonymous_variant	80122							g.chr2:135745329C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1113G>A	2.37:g.135745329C>T						MAP3K19_ENST00000358371.4_Silent_p.K258K|MAP3K19_ENST00000392915.1_Silent_p.K388K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	p.K371K	NM_025052.3	NP_079328.3					7	1143	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1113G>A	CCDS2176.2																																																																																				0.383	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		23	43	0	0	0	1	0	23	43				
TGFBI	7045	broad.mit.edu	37	5	135392419	135392419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135392419C>T	ENST00000442011.2	+	12	1774	c.1613C>T	c.(1612-1614)aCa>aTa	p.T538I	TGFBI_ENST00000508076.1_5'Flank|TGFBI_ENST00000305126.8_Missense_Mutation_p.T538I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	538	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.		T -> R (in CDL1; delayed age of onset). {ECO:0000269|PubMed:11923233}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTACACAGTCTTTGCT	0.507																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32	GRCh37	CM022470	TGFBI	M		c.(1612-1614)aCa>aTa		transforming growth factor, beta-induced, 68kDa							85.0	88.0	87.0					5																	135392419		1975	4165	6140	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135392419C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1613C>T	5.37:g.135392419C>T	ENSP00000416330:p.Thr538Ile					TGFBI_ENST00000305126.8_Missense_Mutation_p.T538I	p.T538I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		12	1774	+			538		T -> R (in CDL1; delayed age of onset).	FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1613C>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498197	0.85069	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	D;D	0.99519	-6.07;-6.07	5.82	5.82	0.92795	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	H	0.99299	4.505	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.77557	0.99;0.99	D	0.96821	0.9604	10	0.87932	D	0	-2.2912	20.0893	0.97812	0.0:1.0:0.0:0.0	.	271;538	B9ZVW9;Q15582	.;BGH3_HUMAN	I	538;271;538	ENSP00000416330:T538I;ENSP00000306306:T538I	ENSP00000306306:T538I	T	+	2	0	TGFBI	135420318	1.000000	0.71417	0.954000	0.39281	0.861000	0.49209	5.694000	0.68272	2.761000	0.94854	0.655000	0.94253	ACA		0.507	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			9	37	0	0	0	1	0	9	37				
CSNK1G2	1455	broad.mit.edu	37	19	1978330	1978330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978330G>A	ENST00000255641.8	+	3	709	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATGAATACGTGGCTATCAA	0.642																																					Ovarian(91;880 1392 21236 36928 37598)	ENST00000255641.8																			0				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(214-216)Gtg>Atg		casein kinase 1, gamma 2							71.0	83.0	79.0					19																	1978330		2202	4299	6501	SO:0001583	missense	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1978330G>A	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.214G>A	19.37:g.1978330G>A	ENSP00000255641:p.Val72Met						p.V72M	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	709	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	72			Protein kinase.		B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	c.214G>A	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	16.28	3.077732	0.55753	.	.	ENSG00000133275	ENST00000255641	T	0.28895	1.59	4.46	3.42	0.39159	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.176790	0.36200	N	0.002730	T	0.56920	0.2018	M	0.87971	2.92	0.54753	D	0.999988	D	0.89917	1.0	D	0.71870	0.975	T	0.62751	-0.6788	10	0.87932	D	0	.	10.9196	0.47156	0.0935:0.0:0.9065:0.0	.	72	P78368	KC1G2_HUMAN	M	72	ENSP00000255641:V72M	ENSP00000255641:V72M	V	+	1	0	CSNK1G2	1929330	1.000000	0.71417	0.989000	0.46669	0.253000	0.25986	6.361000	0.73070	0.864000	0.35578	0.561000	0.74099	GTG		0.642	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319		4	42	0	0	0	1	0	4	42				
CDC42BPB	9578	broad.mit.edu	37	14	103442282	103442282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103442282G>A	ENST00000361246.2	-	10	1613	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCTCGTAAGCTTCCATCTG	0.592																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1324-1326)gCt>gTt		CDC42 binding protein kinase beta (DMPK-like)							89.0	89.0	89.0					14																	103442282		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442282G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1325C>T	14.37:g.103442282G>A	ENSP00000355237:p.Ala442Val						p.A442V	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	10	1613	-		Melanoma(154;0.155)	442						Missense_Mutation	SNP	ENST00000361246.2	37	c.1325C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860066	0.51482	.	.	ENSG00000198752	ENST00000361246	T	0.66460	-0.21	5.8	5.8	0.92144	.	0.047096	0.85682	D	0.000000	T	0.68044	0.2958	M	0.72894	2.215	0.80722	D	1	B	0.15473	0.013	B	0.18871	0.023	T	0.64723	-0.6340	10	0.52906	T	0.07	.	16.532	0.84364	0.0:0.139:0.8609:0.0	.	442	Q9Y5S2	MRCKB_HUMAN	V	442	ENSP00000355237:A442V	ENSP00000355237:A442V	A	-	2	0	CDC42BPB	102512035	1.000000	0.71417	0.179000	0.23059	0.377000	0.30045	5.579000	0.67457	2.732000	0.93576	0.650000	0.86243	GCT		0.592	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		32	41	0	0	0	1	0	32	41				
ZNF618	114991	broad.mit.edu	37	9	116811954	116811954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811954C>T	ENST00000374126.5	+	15	2471	c.2372C>T	c.(2371-2373)gCg>gTg	p.A791V	ZNF618_ENST00000288466.7_Missense_Mutation_p.A698V|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	791					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCCTGGAGGCGCTCAAGGAG	0.637																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2092-2094)gCg>gTg		zinc finger protein 618							49.0	54.0	52.0					9																	116811954		2121	4233	6354	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811954C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2372C>T	9.37:g.116811954C>T	ENSP00000363241:p.Ala791Val					ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.A791V	p.A698V	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2192	+			791					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2093C>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.320449	0.81469	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21932	1.98;1.98	5.24	5.24	0.73138	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.972;0.994;0.996	T	0.42032	-0.9475	9	0.46703	T	0.11	-28.7352	18.1678	0.89734	0.0:1.0:0.0:0.0	.	758;791;698	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	V	791;698	ENSP00000363241:A791V;ENSP00000288466:A698V	ENSP00000288466:A698V	A	+	2	0	ZNF618	115851775	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.414000	0.80117	2.623000	0.88846	0.561000	0.74099	GCG		0.637	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		10	47	0	0	0	1	0	10	47				
KRT82	3888	broad.mit.edu	37	12	52789941	52789941	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52789941G>A	ENST00000257974.2	-	7	1221	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	382	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCCCTGCCAGCTTGCACTTG	0.597																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1144-1146)Ctg>Ttg		keratin 82							59.0	50.0	53.0					12																	52789941		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52789941G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1144C>T	12.37:g.52789941G>A						RP3-416H24.4_ENST00000547174.1_RNA	p.L382L	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	7	1221	-			382			Coil 2.|Rod.			Silent	SNP	ENST00000257974.2	37	c.1144C>T	CCDS8826.1																																																																																				0.597	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		12	17	0	0	0	1	0	12	17				
ZNF160	90338	broad.mit.edu	37	19	53573045	53573045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53573045G>A	ENST00000429604.1	-	7	1157	c.742C>T	c.(742-744)Cga>Tga	p.R248*	ZNF160_ENST00000601421.1_Nonsense_Mutation_p.R212*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.R248*	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	248					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTGCTTTTCGTCTTTGTGTG	0.373																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(634-636)Cga>Tga		zinc finger protein 160							145.0	139.0	141.0					19																	53573045		2203	4300	6503	SO:0001587	stop_gained	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573045G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.742C>T	19.37:g.53573045G>A	ENSP00000406201:p.Arg248*					ZNF160_ENST00000418871.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000429604.1_Nonsense_Mutation_p.R248*	p.R212*			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1510	-			248					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Nonsense_Mutation	SNP	ENST00000429604.1	37	c.634C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240091	0.79912	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	.	.	.	1.84	0.734	0.18294	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.7619	0.28957	0.0:0.2629:0.7371:0.0	.	.	.	.	X	248	.	ENSP00000409597:R248X	R	-	1	2	ZNF160	58264857	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.341000	0.07811	0.313000	0.23062	-0.305000	0.09177	CGA		0.373	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		48	91	0	0	0	1	0	48	91				
ZNF124	7678	broad.mit.edu	37	1	247320254	247320254	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247320254G>A	ENST00000543802.2	-	4	759	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	ZNF124_ENST00000340684.6_Missense_Mutation_p.H162Y|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTTCTTTCATGGTAATGAAGG	0.443																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(484-486)Cat>Tat		zinc finger protein 124							127.0	126.0	126.0					1																	247320254		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320254G>A	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.670C>T	1.37:g.247320254G>A	ENSP00000440365:p.His224Tyr					ZNF124_ENST00000543802.2_Missense_Mutation_p.H224Y|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR	p.H162Y	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	622	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		224					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.484C>T		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660918	0.47572	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	D;D	0.86769	-2.17;-2.17	0.864	0.864	0.19068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94049	0.8093	H	0.95574	3.69	0.38921	D	0.957748	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.982	D	0.92922	0.6356	9	0.87932	D	0	.	7.5457	0.27766	0.0:0.0:1.0:0.0	.	224;162	Q15973;Q15973-4	ZN124_HUMAN;.	Y	185;162;168	ENSP00000340749:H162Y;ENSP00000440365:H168Y	ENSP00000340749:H162Y	H	-	1	0	ZNF124	245386877	0.999000	0.42202	0.015000	0.15790	0.025000	0.11179	5.604000	0.67626	0.746000	0.32786	0.467000	0.42956	CAT		0.443	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		6	100	0	0	0	1	0	6	100				
SHROOM2	357	broad.mit.edu	37	X	9864183	9864183	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9864183G>A	ENST00000380913.3	+	4	2325	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	745	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCCCACCCGCCCCGCATCG	0.627																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(2233-2235)ccG>ccA		shroom family member 2							10.0	11.0	11.0					X																	9864183		2172	4234	6406	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864183G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2235G>A	X.37:g.9864183G>A							p.P745P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	2325	+		Hepatocellular(5;0.000888)	745			ASD1.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.2235G>A	CCDS14135.1																																																																																				0.627	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		5	7	0	0	0	1	0	5	7				
MGAT5B	146664	broad.mit.edu	37	17	74868844	74868844	+	Intron	SNP	G	G	A	rs534502679	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74868844G>A	ENST00000569840.2	+	2	642				MGAT5B_ENST00000428789.2_Missense_Mutation_p.V5I|MGAT5B_ENST00000374998.3_Intron|MGAT5B_ENST00000565675.1_Intron|MGAT5B_ENST00000301618.4_Intron	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B						protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTCATTCGTAAAACATTT	0.572													G|||	4	0.000798722	0.0	0.0	5008	,	,		19972	0.0		0.0	False		,,,				2504	0.0041					ENST00000428789.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(13-15)Gta>Ata		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							46.0	46.0	46.0					17																	74868844		1327	2309	3636	SO:0001627	intron_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74868844G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.69-89G>A	17.37:g.74868844G>A						MGAT5B_ENST00000569840.2_Intron|MGAT5B_ENST00000374998.3_Intron|MGAT5B_ENST00000565675.1_Intron|MGAT5B_ENST00000301618.4_Intron	p.V5I	NM_198955.1	NP_945193.1	Q3V5L5	MGT5B_HUMAN			1	116	+			0					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.13G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.729874	0.00687	.	.	ENSG00000167889	ENST00000428789	T	0.43688	0.94	1.53	-3.07	0.05363	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11299	-1.0593	9	0.87932	D	0	.	0.8929	0.01257	0.2908:0.3645:0.1489:0.1958	.	5	Q3V5L5-2	.	I	5	ENSP00000391227:V5I	ENSP00000391227:V5I	V	+	1	0	MGAT5B	72380439	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.364000	0.00496	-3.665000	0.00124	-3.877000	0.00017	GTA		0.572	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		5	11	0	0	0	1	0	5	11				
NOL8	55035	broad.mit.edu	37	9	95077759	95077759	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95077759T>C	ENST00000535387.1	-	6	1147	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G	NOL8_ENST00000542053.1_Missense_Mutation_p.E315G|NOL8_ENST00000358855.4_Missense_Mutation_p.E315G|NOL8_ENST00000545558.1_Missense_Mutation_p.E383G|NOL8_ENST00000442668.2_Missense_Mutation_p.E383G					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CGCAATAATTTCATCTGTATC	0.308																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1147-1149)gAa>gGa		nucleolar protein 8							55.0	47.0	49.0					9																	95077759		1848	4089	5937	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077759T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1148A>G	9.37:g.95077759T>C	ENSP00000441300:p.Glu383Gly					NOL8_ENST00000358855.4_Missense_Mutation_p.E315G|NOL8_ENST00000442668.2_Missense_Mutation_p.E383G|NOL8_ENST00000535387.1_Missense_Mutation_p.E383G|NOL8_ENST00000542053.1_Missense_Mutation_p.E315G	p.E383G			Q76FK4	NOL8_HUMAN			7	1640	-			383						Missense_Mutation	SNP	ENST00000535387.1	37	c.1148A>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199221	0.58126	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.63580	1.47;1.54;1.47;1.63;1.54;1.18;-0.05	5.63	4.47	0.54385	.	0.246703	0.45867	N	0.000335	T	0.69360	0.3102	L	0.49778	1.585	0.37845	D	0.929181	D	0.64830	0.994	P	0.57720	0.826	T	0.74813	-0.3537	10	0.87932	D	0	-11.1266	12.8924	0.58080	0.0:0.0:0.1359:0.8641	.	383	Q76FK4	NOL8_HUMAN	G	383;385;315;383;383;315;383;383	ENSP00000401177:E383G;ENSP00000351723:E315G;ENSP00000441140:E383G;ENSP00000441300:E383G;ENSP00000440709:E315G;ENSP00000414112:E383G;ENSP00000412471:E383G	ENSP00000351723:E315G	E	-	2	0	NOL8	94117580	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.092000	0.64511	0.935000	0.37341	0.496000	0.49642	GAA		0.308	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		8	14	0	0	0	1	0	8	14				
OXR1	55074	broad.mit.edu	37	8	107715311	107715311	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107715311T>G	ENST00000442977.2	+	7	955	c.856T>G	c.(856-858)Tta>Gta	p.L286V	OXR1_ENST00000517566.2_Missense_Mutation_p.L285V|OXR1_ENST00000497705.1_Missense_Mutation_p.L218V|OXR1_ENST00000531443.1_Missense_Mutation_p.L285V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000445937.1_Missense_Mutation_p.L285V|OXR1_ENST00000312046.6_Missense_Mutation_p.L278V	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	286					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGGAATCTTTACCCATGTA	0.333																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(853-855)Tta>Gta		oxidation resistance 1							79.0	77.0	77.0					8																	107715311		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107715311T>G	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.856T>G	8.37:g.107715311T>G	ENSP00000405424:p.Leu286Val					OXR1_ENST00000497705.1_Missense_Mutation_p.L218V|OXR1_ENST00000312046.6_Missense_Mutation_p.L278V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.L286V|OXR1_ENST00000517566.2_Missense_Mutation_p.L285V|OXR1_ENST00000531443.1_Missense_Mutation_p.L285V	p.L285V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	1114	+			286					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.853T>G	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858079	0.32791	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	T;T;T;T;T;T	0.26810	2.6;2.6;2.6;2.6;1.71;2.6	5.65	0.707	0.18139	.	0.073480	0.56097	D	0.000033	T	0.16342	0.0393	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.21520	0.028;0.016;0.057;0.057	B;B;B;B	0.23419	0.015;0.007;0.046;0.046	T	0.08249	-1.0731	10	0.29301	T	0.29	-9.9158	5.855	0.18714	0.0:0.2507:0.1283:0.621	.	278;286;218;285	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.;OXR1_HUMAN;.;.	V	285;285;285;286;218;278	ENSP00000402918:L285V;ENSP00000431966:L285V;ENSP00000429205:L285V;ENSP00000405424:L286V;ENSP00000431014:L218V;ENSP00000311026:L278V	ENSP00000311026:L278V	L	+	1	2	OXR1	107784487	0.991000	0.36638	0.987000	0.45799	0.995000	0.86356	2.123000	0.41996	-0.041000	0.13558	0.528000	0.53228	TTA		0.333	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		33	33	0	0	0	1	0	33	33				
FAM208B	54906	broad.mit.edu	37	10	5788961	5788961	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5788961C>T	ENST00000328090.5	+	15	4202	c.3577C>T	c.(3577-3579)Cta>Tta	p.L1193L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1193																	TCTCCTCGGCCTATCTTCAGA	0.468																																						ENST00000328090.5																			0											c.(3577-3579)Cta>Tta		family with sequence similarity 208, member B							87.0	89.0	89.0					10																	5788961		2008	4181	6189	SO:0001819	synonymous_variant	54906							g.chr10:5788961C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3577C>T	10.37:g.5788961C>T							p.L1193L	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4202	+			1193					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3577C>T	CCDS41485.1																																																																																				0.468	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		38	53	0	0	0	1	0	38	53				
CREBBP	1387	broad.mit.edu	37	16	3843551	3843551	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3843551C>T	ENST00000262367.5	-	4	1861	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CREBBP_ENST00000382070.3_Missense_Mutation_p.R351H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	351	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TATCAGTTTGCGTTTTTCAGG	0.468			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1051-1053)cGc>cAc		CREB binding protein							178.0	144.0	155.0					16																	3843551		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3843551C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1052G>A	16.37:g.3843551C>T	ENSP00000262367:p.Arg351His					CREBBP_ENST00000382070.3_Missense_Mutation_p.R351H	p.R351H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	4	1861	-		Ovarian(90;0.0266)	351			Interaction with SRCAP.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1052G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509156	0.85282	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.86164	-2.08;-2.08	5.91	5.91	0.95273	Zinc finger, TAZ-type (4);	0.000000	0.64402	D	0.000001	D	0.92351	0.7573	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.991	P;P	0.60886	0.88;0.809	D	0.92068	0.5662	10	0.62326	D	0.03	-21.5027	20.2985	0.98592	0.0:1.0:0.0:0.0	.	419;351	Q4LE28;Q92793	.;CBP_HUMAN	H	351;419;351	ENSP00000262367:R351H;ENSP00000371502:R351H	ENSP00000262367:R351H	R	-	2	0	CREBBP	3783552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	CGC		0.468	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		29	37	0	0	0	1	0	29	37				
FBXL2	25827	broad.mit.edu	37	3	33418801	33418801	+	Silent	SNP	C	C	T	rs139204865		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33418801C>T	ENST00000484457.1	+	11	916	c.825C>T	c.(823-825)gaC>gaT	p.D275D	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Silent_p.D207D|FBXL2_ENST00000538181.1_Silent_p.D191D|FBXL2_ENST00000507198.1_Silent_p.D207D|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATTTGACTGACGCAGGTTTTA	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16974	0.0		0.0	False		,,,				2504	0.0					ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(823-825)gaC>gaT		F-box and leucine-rich repeat protein 2		C	,	1,4405	2.1+/-5.4	0,1,2202	125.0	125.0	125.0		621,825	-7.6	0.5	3	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FBXL2	NM_001171713.1,NM_012157.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	207/356,275/424	33418801	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33418801C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.825C>T	3.37:g.33418801C>T						FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Silent_p.D191D|FBXL2_ENST00000507198.1_Silent_p.D207D|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.D207D	p.D275D	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			11	916	+			275						Silent	SNP	ENST00000484457.1	37	c.825C>T	CCDS2658.1																																																																																				0.423	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		27	60	0	0	0	1	0	27	60				
SLC35B1	10237	broad.mit.edu	37	17	47781573	47781573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47781573G>T	ENST00000240333.6	-	6	665	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L219M			P78383	S35B1_HUMAN	solute carrier family 35, member B1	182					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGTCCATCCAGGGTCAGCGAT	0.532																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(544-546)Ctg>Atg		solute carrier family 35, member B1							146.0	129.0	135.0					17																	47781573		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47781573G>T	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.544C>A	17.37:g.47781573G>T	ENSP00000240333:p.Leu182Met					SLC35B1_ENST00000415270.2_Missense_Mutation_p.L219M	p.L182M			P78383	S35B1_HUMAN			6	665	-			182					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.544C>A	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	G	3.656	-0.070460	0.07228	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334;ENST00000508520;ENST00000502268;ENST00000435059;ENST00000514907;ENST00000515850;ENST00000511763	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	6.06	4.09	0.47781	.	0.069667	0.64402	D	0.000016	T	0.15003	0.0362	N	0.11845	0.185	0.58432	D	0.999995	B;B;B	0.23990	0.053;0.095;0.095	B;B;B	0.25614	0.062;0.041;0.041	T	0.06127	-1.0844	10	0.06236	T	0.91	-5.4139	10.8699	0.46877	0.2071:0.0:0.7929:0.0	.	182;115;182	B4DJG9;D3DTX1;P78383	.;.;S35B1_HUMAN	M	182;219;58;58;115;185;58;182;151;216;139	ENSP00000240333:L182M;ENSP00000409548:L219M;ENSP00000423323:L115M;ENSP00000424367:L185M;ENSP00000426961:L151M;ENSP00000427689:L216M;ENSP00000422104:L139M	ENSP00000240333:L182M	L	-	1	2	SLC35B1	45136572	0.310000	0.24527	1.000000	0.80357	0.833000	0.47200	0.663000	0.25053	0.896000	0.36366	0.650000	0.86243	CTG		0.532	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		16	25	1	0	3.41278e-10	1	4.19267e-10	16	25				
PPP2CA	5515	broad.mit.edu	37	5	133534873	133534873	+	Missense_Mutation	SNP	C	C	T	rs368545605		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133534873C>T	ENST00000481195.1	-	6	1041	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	254					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TACTACATTCCGGTCATGGCA	0.368																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(760-762)cGg>cAg		protein phosphatase 2, catalytic subunit, alpha isozyme		C	GLN/ARG	0,4406		0,0,2203	129.0	118.0	122.0		761	5.6	1.0	5		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP2CA	NM_002715.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		254/310	133534873	1,13005	2203	4300	6503	SO:0001583	missense	5515							g.chr5:133534873C>T		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.761G>A	5.37:g.133534873C>T	ENSP00000418447:p.Arg254Gln						p.R254Q	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1041	-								P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	c.761G>A	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485606	0.63962	0.0	1.16E-4	ENSG00000113575	ENST00000481195	T	0.32753	1.44	5.56	5.56	0.83823	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	L	0.28556	0.865	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06844	-1.0804	10	0.15499	T	0.54	-3.7727	19.5159	0.95165	0.0:1.0:0.0:0.0	.	254	P67775	PP2AA_HUMAN	Q	254	ENSP00000418447:R254Q	ENSP00000418447:R254Q	R	-	2	0	PPP2CA	133562772	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.478000	0.81082	2.621000	0.88768	0.655000	0.94253	CGG		0.368	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		19	48	0	0	0	1	0	19	48				
AGPAT9	84803	broad.mit.edu	37	4	84465730	84465730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84465730G>A	ENST00000395226.2	+	3	401	c.183G>A	c.(181-183)tcG>tcA	p.S61S	AGPAT9_ENST00000264409.4_Silent_p.S61S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	61					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAAAGGAGTCGATTCTTAAAA	0.343																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(181-183)tcG>tcA		1-acylglycerol-3-phosphate O-acyltransferase 9							187.0	200.0	195.0					4																	84465730		2203	4300	6503	SO:0001819	synonymous_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84465730G>A	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.183G>A	4.37:g.84465730G>A						AGPAT9_ENST00000264409.4_Silent_p.S61S	p.S61S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			3	401	+		Hepatocellular(203;0.114)	61					Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	c.183G>A	CCDS3606.1																																																																																				0.343	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		59	84	0	0	0	1	0	59	84				
LRP5	4041	broad.mit.edu	37	11	68193472	68193472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68193472G>A	ENST00000294304.7	+	16	3560	c.3454G>A	c.(3454-3456)Gcc>Acc	p.A1152T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1152	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGAGGACGCCAACATCGT	0.637																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3454-3456)Gcc>Acc		low density lipoprotein receptor-related protein 5							85.0	76.0	79.0					11																	68193472		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68193472G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3454G>A	11.37:g.68193472G>A	ENSP00000294304:p.Ala1152Thr						p.A1152T	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			16	3560	+			1152			Beta-propeller 4.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3454G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503029	0.44558	.	.	ENSG00000162337	ENST00000294304	D	0.95885	-3.84	4.87	1.48	0.22813	Six-bladed beta-propeller, TolB-like (1);	0.136506	0.31427	U	0.007676	D	0.85444	0.5698	N	0.02539	-0.55	0.38788	D	0.954915	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.77544	-0.2548	10	0.30078	T	0.28	.	12.4753	0.55809	0.0:0.0:0.3046:0.6954	.	1152;1152	Q9UES7;O75197	.;LRP5_HUMAN	T	1152	ENSP00000294304:A1152T	ENSP00000294304:A1152T	A	+	1	0	LRP5	67950048	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	6.175000	0.71949	0.582000	0.29556	0.555000	0.69702	GCC		0.637	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		29	38	0	0	0	1	0	29	38				
TRPM8	79054	broad.mit.edu	37	2	234862630	234862630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234862630G>A	ENST00000324695.4	+	10	1250	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	TRPM8_ENST00000433712.2_Missense_Mutation_p.V92M|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	404					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGATGAAATTGTGAGCAATGC	0.393																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(1210-1212)Gtg>Atg		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						69.0	69.0	69.0					2																	234862630		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234862630G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1210G>A	2.37:g.234862630G>A	ENSP00000323926:p.Val404Met					AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Missense_Mutation_p.V92M	p.V404M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	10	1250	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	404					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1210G>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460069	0.84317	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.27557	1.66;1.66	5.75	5.75	0.90469	.	0.083014	0.51477	D	0.000095	T	0.60327	0.2260	M	0.81942	2.565	0.50313	D	0.999866	D;D	0.76494	0.998;0.999	D;D	0.78314	0.987;0.991	T	0.63607	-0.6599	10	0.87932	D	0	-25.7712	18.5148	0.90931	0.0:0.0:1.0:0.0	.	92;404	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	M	404;92	ENSP00000323926:V404M;ENSP00000404423:V92M	ENSP00000323926:V404M	V	+	1	0	TRPM8	234527369	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.142000	0.77339	2.723000	0.93209	0.650000	0.86243	GTG		0.393	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		11	16	0	0	0	1	0	11	16				
MCM8	84515	broad.mit.edu	37	20	5948125	5948125	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948125A>G	ENST00000378896.3	+	9	1296	c.919A>G	c.(919-921)Att>Gtt	p.I307V	MCM8_ENST00000378883.1_Missense_Mutation_p.I307V|Y_RNA_ENST00000384650.1_RNA|MCM8_ENST00000265187.4_Missense_Mutation_p.I307V|MCM8_ENST00000378886.2_Missense_Mutation_p.I307V	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	307					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCAGGTCGGATTCCACGAAC	0.393																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(919-921)Att>Gtt		minichromosome maintenance complex component 8							161.0	145.0	151.0					20																	5948125		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5948125A>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.919A>G	20.37:g.5948125A>G	ENSP00000368174:p.Ile307Val					MCM8_ENST00000265187.4_Missense_Mutation_p.I307V|MCM8_ENST00000378886.2_Missense_Mutation_p.I307V|MCM8_ENST00000378883.1_Missense_Mutation_p.I307V	p.I307V	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			9	1296	+			307					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.919A>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990555	0.35131	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.87	5.87	0.94306	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.06462	0.0166	L	0.42529	1.33	0.80722	D	1	B;B;B;B	0.28713	0.14;0.22;0.033;0.086	B;B;B;B	0.30105	0.111;0.034;0.051;0.034	T	0.42816	-0.9429	10	0.16420	T	0.52	-20.6525	16.2631	0.82557	1.0:0.0:0.0:0.0	.	307;307;307;307	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	V	307	ENSP00000368174:I307V;ENSP00000368161:I307V;ENSP00000368164:I307V;ENSP00000265187:I307V	ENSP00000265187:I307V	I	+	1	0	MCM8	5896125	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	2.239000	0.73571	0.528000	0.53228	ATT		0.393	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		7	83	0	0	0	1	0	7	83				
MAP3K19	80122	broad.mit.edu	37	2	135744064	135744064	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135744064T>A	ENST00000375845.3	-	7	2408	c.2378A>T	c.(2377-2379)gAg>gTg	p.E793V	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E680V|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E810V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	793							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CATGGACTGCTCAGGTGTCTG	0.398																																						ENST00000375845.3																			0											c.(2377-2379)gAg>gTg		mitogen-activated protein kinase kinase kinase 19							66.0	65.0	66.0					2																	135744064		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744064T>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2378A>T	2.37:g.135744064T>A	ENSP00000365005:p.Glu793Val					MAP3K19_ENST00000358371.4_Missense_Mutation_p.E680V|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E810V|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	p.E793V	NM_025052.3	NP_079328.3					7	2408	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2378A>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	8.665	0.901511	0.17760	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.75704	-0.95;-0.9;1.41;-0.96	4.61	4.61	0.57282	.	0.143577	0.31897	N	0.006885	T	0.76933	0.4057	L	0.34521	1.04	0.25230	N	0.989838	D;D;D	0.67145	0.971;0.996;0.982	P;D;P	0.63957	0.714;0.92;0.637	T	0.69450	-0.5142	10	0.62326	D	0.03	.	11.9901	0.53169	0.0:0.0:0.0:1.0	.	680;810;793	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	793;680;810;183	ENSP00000365005:E793V;ENSP00000351140:E680V;ENSP00000376647:E810V;ENSP00000392827:E183V	ENSP00000351140:E680V	E	-	2	0	YSK4	135460534	0.022000	0.18835	0.006000	0.13384	0.099000	0.18886	1.750000	0.38329	1.925000	0.55765	0.334000	0.21626	GAG		0.398	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		31	64	0	0	0	1	0	31	64				
MLLT4	4301	broad.mit.edu	37	6	168276093	168276093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168276093G>T	ENST00000447894.2	+	5	657	c.657G>T	c.(655-657)gaG>gaT	p.E219D	MLLT4_ENST00000366806.2_Missense_Mutation_p.E219D|MLLT4_ENST00000392108.3_Missense_Mutation_p.E219D|MLLT4_ENST00000392112.1_Missense_Mutation_p.E218D|MLLT4_ENST00000344191.4_Missense_Mutation_p.E219D|MLLT4_ENST00000351017.4_Missense_Mutation_p.E219D|MLLT4_ENST00000400822.3_Missense_Mutation_p.E218D			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	219					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAATCCTGAGGTGGTTATGA	0.423			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(655-657)gaG>gaT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							179.0	191.0	187.0					6																	168276093		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168276093G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.657G>T	6.37:g.168276093G>T	ENSP00000404595:p.Glu219Asp					MLLT4_ENST00000400822.3_Missense_Mutation_p.E218D|MLLT4_ENST00000392112.1_Missense_Mutation_p.E218D|MLLT4_ENST00000344191.4_Missense_Mutation_p.E219D|MLLT4_ENST00000351017.4_Missense_Mutation_p.E219D|MLLT4_ENST00000392108.3_Missense_Mutation_p.E219D|MLLT4_ENST00000447894.2_Missense_Mutation_p.E219D	p.E219D			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	5	799	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	219					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.657G>T		.	.	.	.	.	.	.	.	.	.	G	15.27	2.782913	0.49891	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.09163	3.2;3.11;3.22;3.21;3.01;3.11;3.11	4.48	2.51	0.30379	.	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	M	0.69823	2.125	0.51012	D	0.999905	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.995;0.991;0.999	T	0.01042	-1.1471	10	0.49607	T	0.09	-4.599	7.1562	0.25639	0.3568:0.0:0.6432:0.0	.	218;219;218	P55196-5;P55196-6;P55196-2	.;.;.	D	219;219;219;219;219;218;219;220;218;219	ENSP00000341118:E219D;ENSP00000252692:E219D;ENSP00000375956:E219D;ENSP00000355771:E219D;ENSP00000375960:E218D;ENSP00000383623:E218D;ENSP00000404595:E219D	ENSP00000345834:E219D	E	+	3	2	MLLT4	168018942	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.227000	0.42972	1.109000	0.41680	0.460000	0.39030	GAG		0.423	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		20	203	1	0	1.33834e-09	1	1.62941e-09	20	203				
FAM111A	63901	broad.mit.edu	37	11	58920195	58920195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58920195C>T	ENST00000528737.1	+	5	3872	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	FAM111A_ENST00000420244.1_Missense_Mutation_p.R352C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R352C|FAM111A_ENST00000533703.1_Missense_Mutation_p.R352C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R352C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	352	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACTTCTTGTACGTCTCAGTGA	0.368																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1054-1056)Cgt>Tgt		family with sequence similarity 111, member A							81.0	83.0	82.0					11																	58920195		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920195C>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1054C>T	11.37:g.58920195C>T	ENSP00000434435:p.Arg352Cys					FAM111A_ENST00000361723.3_Missense_Mutation_p.R352C|FAM111A_ENST00000533703.1_Missense_Mutation_p.R352C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R352C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R352C	p.R352C			Q96PZ2	F111A_HUMAN			5	3872	+		all_epithelial(135;0.139)	352					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1054C>T	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537522	0.45176	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.73	-6.41	0.01938	Peptidase cysteine/serine, trypsin-like (1);	3.882290	0.00166	N	0.000010	T	0.19967	0.0480	N	0.14661	0.345	0.09310	N	1	D	0.54047	0.964	B	0.36766	0.232	T	0.43147	-0.9409	10	0.72032	D	0.01	10.0098	4.8596	0.13577	0.4996:0.1566:0.2745:0.0693	.	352	Q96PZ2	F111A_HUMAN	C	352	ENSP00000434435:R352C;ENSP00000406683:R352C;ENSP00000355264:R352C;ENSP00000433154:R352C;ENSP00000431631:R352C	ENSP00000355264:R352C	R	+	1	0	FAM111A	58676771	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.427000	0.06999	-0.719000	0.04942	-0.895000	0.02911	CGT		0.368	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		45	72	0	0	0	1	0	45	72				
GRM1	2911	broad.mit.edu	37	6	146719914	146719914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146719914C>T	ENST00000282753.1	+	7	1974	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	GRM1_ENST00000355289.4_Missense_Mutation_p.P580L|GRM1_ENST00000507907.1_Missense_Mutation_p.P580L|GRM1_ENST00000392299.2_Missense_Mutation_p.P580L|GRM1_ENST00000361719.2_Missense_Mutation_p.P580L|GRM1_ENST00000492807.2_Missense_Mutation_p.P580L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	580					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCTGTGAGCCCATTCCTGTG	0.428																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1738-1740)cCc>cTc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						192.0	177.0	182.0					6																	146719914		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146719914C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1739C>T	6.37:g.146719914C>T	ENSP00000282753:p.Pro580Leu					GRM1_ENST00000507907.1_Missense_Mutation_p.P580L|GRM1_ENST00000282753.1_Missense_Mutation_p.P580L|GRM1_ENST00000361719.2_Missense_Mutation_p.P580L|GRM1_ENST00000355289.4_Missense_Mutation_p.P580L|GRM1_ENST00000492807.2_Missense_Mutation_p.P580L	p.P580L			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2209	+		Ovarian(120;0.0387)	580					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1739C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261655	0.23051	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89343	-2.47;-2.5;-2.5;-2.47;-2.5;-2.5	5.81	5.81	0.92471	.	0.097956	0.64402	D	0.000001	T	0.79335	0.4428	L	0.41236	1.265	0.80722	D	1	B;B;B	0.26577	0.003;0.153;0.003	B;B;B	0.22386	0.017;0.039;0.011	T	0.75614	-0.3257	10	0.19147	T	0.46	.	20.0695	0.97716	0.0:1.0:0.0:0.0	.	580;580;580	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	580	ENSP00000354896:P580L;ENSP00000376119:P580L;ENSP00000424095:P580L;ENSP00000282753:P580L;ENSP00000347437:P580L;ENSP00000425599:P580L	ENSP00000282753:P580L	P	+	2	0	GRM1	146761607	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.916000	0.56416	2.761000	0.94854	0.585000	0.79938	CCC		0.428	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		56	70	0	0	0	1	0	56	70				
NPY	4852	broad.mit.edu	37	7	24324914	24324914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24324914C>T	ENST00000407573.1	+	3	345	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	NPY_ENST00000242152.2_Missense_Mutation_p.L19F|NPY_ENST00000405982.1_Missense_Mutation_p.L19F			P01303	NPY_HUMAN	neuropeptide Y	19					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCTGTCCCTGCTCGTGTGCCT	0.657																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(55-57)Ctc>Ttc		neuropeptide Y							89.0	73.0	78.0					7																	24324914		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324914C>T	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.55C>T	7.37:g.24324914C>T	ENSP00000384364:p.Leu19Phe					NPY_ENST00000405982.1_Missense_Mutation_p.L19F|NPY_ENST00000242152.2_Missense_Mutation_p.L19F	p.L19F			P01303	NPY_HUMAN			3	345	+			19						Missense_Mutation	SNP	ENST00000407573.1	37	c.55C>T	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354896	0.82243	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.23147	1.92;1.92;1.92	5.56	5.56	0.83823	.	0.061421	0.64402	D	0.000002	T	0.24661	0.0598	.	.	.	0.53688	D	0.999978	B	0.14805	0.011	B	0.15052	0.012	T	0.01930	-1.1245	9	0.48119	T	0.1	-10.1056	15.8431	0.78864	0.1362:0.8638:0.0:0.0	.	19	P01303	NPY_HUMAN	F	19	ENSP00000242152:L19F;ENSP00000384364:L19F;ENSP00000385282:L19F	ENSP00000242152:L19F	L	+	1	0	NPY	24291439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.276000	0.51646	2.617000	0.88574	0.650000	0.86243	CTC		0.657	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		40	44	0	0	0	1	0	40	44				
ASH1L	55870	broad.mit.edu	37	1	155447933	155447933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155447933C>A	ENST00000368346.3	-	3	5367	c.4728G>T	c.(4726-4728)caG>caT	p.Q1576H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1576H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1576					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACAGTCAATCTGTAAAGGTG	0.458																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4726-4728)caG>caT		ash1 (absent, small, or homeotic)-like (Drosophila)							101.0	102.0	102.0					1																	155447933		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447933C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4728G>T	1.37:g.155447933C>A	ENSP00000357330:p.Gln1576His					ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1576H	p.Q1576H			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5367	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1576					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.4728G>T		.	.	.	.	.	.	.	.	.	.	C	17.50	3.404920	0.62288	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89415	-2.51;-2.51	5.44	2.38	0.29361	.	0.266532	0.35235	N	0.003354	T	0.81791	0.4897	N	0.14661	0.345	0.80722	D	1	D;D	0.64830	0.989;0.994	P;D	0.65010	0.854;0.931	T	0.82989	-0.0183	10	0.72032	D	0.01	.	8.4317	0.32761	0.0:0.7177:0.0:0.2823	.	1576;1576	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	1576	ENSP00000357330:Q1576H;ENSP00000376204:Q1576H	ENSP00000357330:Q1576H	Q	-	3	2	ASH1L	153714557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.729000	0.26028	0.313000	0.23062	0.655000	0.94253	CAG		0.458	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		34	30	1	0	2.20474e-14	1	2.81294e-14	34	30				
ZNF232	7775	broad.mit.edu	37	17	5009499	5009499	+	Missense_Mutation	SNP	C	C	T	rs140021055		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5009499C>T	ENST00000250076.3	-	5	1609	c.955G>A	c.(955-957)Gtt>Att	p.V319I	ZNF232_ENST00000575898.1_Missense_Mutation_p.V310I|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	292					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGGTGGACAACAAGATGTGAG	0.413																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(955-957)Gtt>Att		zinc finger protein 232							111.0	111.0	111.0					17																	5009499		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009499C>T	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.955G>A	17.37:g.5009499C>T	ENSP00000250076:p.Val319Ile					ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.V310I	p.V319I	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			5	1609	-			292						Missense_Mutation	SNP	ENST00000250076.3	37	c.955G>A	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	0.152	-1.090586	0.01858	.	.	ENSG00000167840	ENST00000250076	T	0.07567	3.18	2.99	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.627020	0.12192	N	0.491107	T	0.02848	0.0085	N	0.04162	-0.26	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.45469	-0.9259	10	0.02654	T	1	.	5.5087	0.16868	0.0:0.7592:0.0:0.2408	.	292;283	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	I	319	ENSP00000250076:V319I	ENSP00000250076:V319I	V	-	1	0	ZNF232	4950223	0.000000	0.05858	0.040000	0.18447	0.977000	0.68977	0.517000	0.22832	0.714000	0.32081	0.655000	0.94253	GTT		0.413	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		55	74	0	0	0	1	0	55	74				
TMEM63C	57156	broad.mit.edu	37	14	77715670	77715670	+	Missense_Mutation	SNP	G	G	A	rs369183388		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77715670G>A	ENST00000298351.4	+	21	2051	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	636					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTGACGGATCGCTATAACATG	0.537																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(1906-1908)cGc>cAc		transmembrane protein 63C		G	HIS/ARG	0,4204		0,0,2102	170.0	171.0	171.0		1907	4.2	1.0	14		171	1,8433		0,1,4216	no	missense	TMEM63C	NM_020431.2	29	0,1,6318	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	636/807	77715670	1,12637	2102	4217	6319	SO:0001583	missense	57156					integral to membrane		g.chr14:77715670G>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1907G>A	14.37:g.77715670G>A	ENSP00000298351:p.Arg636His						p.R636H	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	21	2051	+			636					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1907G>A	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504614	0.85176	0.0	1.19E-4	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.34472	1.36	5.26	4.17	0.49024	Domain of unknown function DUF221 (1);	0.057729	0.64402	D	0.000001	T	0.59432	0.2193	M	0.77103	2.36	0.58432	D	0.999998	D	0.76494	0.999	D	0.68483	0.958	T	0.65606	-0.6127	10	0.87932	D	0	-23.5824	14.7419	0.69461	0.0821:0.0:0.9179:0.0	.	636	Q9P1W3	TM63C_HUMAN	H	636;206	ENSP00000298351:R636H	ENSP00000298351:R636H	R	+	2	0	TMEM63C	76785423	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.467000	0.80930	2.449000	0.82847	0.561000	0.74099	CGC		0.537	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			4	70	0	0	0	1	0	4	70				
TTC12	54970	broad.mit.edu	37	11	113235565	113235565	+	Missense_Mutation	SNP	G	G	A	rs141446456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113235565G>A	ENST00000529221.1	+	21	1930	c.1825G>A	c.(1825-1827)Gtt>Att	p.V609I	TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Missense_Mutation_p.V609I|TTC12_ENST00000483239.2_Missense_Mutation_p.V615I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	609										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGAGTTGAGCGTTATGATGAA	0.542																																						ENST00000529221.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1825-1827)Gtt>Att		tetratricopeptide repeat domain 12		G	ILE/VAL	0,4402		0,0,2201	117.0	91.0	100.0		1825	-10.6	0.0	11	dbSNP_134	100	1,8591		0,1,4295	yes	missense	TTC12	NM_017868.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	609/706	113235565	1,12993	2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113235565G>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1825G>A	11.37:g.113235565G>A	ENSP00000433757:p.Val609Ile					TTC12_ENST00000314756.3_Missense_Mutation_p.V609I|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Missense_Mutation_p.V615I	p.V609I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	21	1930	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	609					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1825G>A	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	g	2.074	-0.412444	0.04799	0.0	1.16E-4	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000483239	T;T;T	0.48836	0.8;0.8;0.8	5.59	-10.6	0.00265	Armadillo-like helical (1);Armadillo-type fold (1);	2.522470	0.01032	N	0.004158	T	0.23965	0.0580	N	0.11845	0.185	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06409	-1.0828	10	0.19590	T	0.45	-1.5837	9.3343	0.38040	0.479:0.2318:0.2892:0.0	.	609;609	A8K8G6;Q9H892	.;TTC12_HUMAN	I	609;609;615	ENSP00000433757:V609I;ENSP00000315160:V609I;ENSP00000419652:V615I	ENSP00000315160:V609I	V	+	1	0	TTC12	112740775	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.805000	0.04530	-1.479000	0.01867	-0.292000	0.09595	GTT		0.542	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		16	17	0	0	0	1	0	16	17				
FAM187B	148109	broad.mit.edu	37	19	35719072	35719072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35719072G>T	ENST00000324675.3	-	1	560	c.512C>A	c.(511-513)cCt>cAt	p.P171H		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	171						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCCTCCAGAGGCTCCTCAAT	0.617																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(511-513)cCt>cAt		family with sequence similarity 187, member B							60.0	59.0	59.0					19																	35719072		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719072G>T	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.512C>A	19.37:g.35719072G>T	ENSP00000323355:p.Pro171His						p.P171H	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	560	-			171					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.512C>A	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	9.721	1.159583	0.21454	.	.	ENSG00000177558	ENST00000324675	T	0.24538	1.85	5.07	-2.67	0.06059	.	0.963084	0.08546	N	0.929840	T	0.13415	0.0325	N	0.21448	0.665	0.09310	N	1	B	0.12630	0.006	B	0.17098	0.017	T	0.31503	-0.9941	10	0.49607	T	0.09	-10.2518	1.7394	0.02949	0.1561:0.1306:0.3107:0.4025	.	171	Q17R55	F187B_HUMAN	H	171	ENSP00000323355:P171H	ENSP00000323355:P171H	P	-	2	0	FAM187B	40410912	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.305000	0.19254	-0.524000	0.06400	-1.759000	0.00671	CCT		0.617	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		5	48	1	0	3.59834e-05	1	4.01776e-05	5	48				
PLXND1	23129	broad.mit.edu	37	3	129275975	129275975	+	Missense_Mutation	SNP	G	G	A	rs141415531	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129275975G>A	ENST00000324093.4	-	34	5715	c.5537C>T	c.(5536-5538)aCg>aTg	p.T1846M	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Missense_Mutation_p.T2M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1846					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGAGCGGCGTCATGTCCTG	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14872	0.0		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(5536-5538)aCg>aTg		plexin D1		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	124.0	94.0	104.0		5537	4.5	0.9	3	dbSNP_134	104	0,8600		0,0,4300	yes	missense	PLXND1	NM_015103.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1846/1926	129275975	2,13004	2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129275975G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5537C>T	3.37:g.129275975G>A	ENSP00000317128:p.Thr1846Met					PLXND1_ENST00000504689.1_Missense_Mutation_p.T2M|PLXND1_ENST00000393239.1_3'UTR	p.T1846M	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN			34	5715	-			1846					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.5537C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354921	0.41700	4.54E-4	0.0	ENSG00000004399	ENST00000324093;ENST00000504689	T;T	0.12039	2.72;2.72	5.35	4.47	0.54385	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.698399	0.14040	N	0.345480	T	0.10723	0.0262	L	0.38175	1.15	0.35402	D	0.791665	B;B	0.31968	0.349;0.144	B;B	0.24269	0.052;0.027	T	0.11665	-1.0578	10	0.56958	D	0.05	.	9.1788	0.37129	0.0765:0.1473:0.7762:0.0	.	442;1846	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	M	1846;2	ENSP00000317128:T1846M;ENSP00000426162:T2M	ENSP00000317128:T1846M	T	-	2	0	PLXND1	130758665	1.000000	0.71417	0.937000	0.37676	0.760000	0.43138	4.700000	0.61803	2.503000	0.84419	0.561000	0.74099	ACG		0.617	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		26	33	0	0	0	1	0	26	33				
KLHL35	283212	broad.mit.edu	37	11	75133660	75133660	+	Silent	SNP	G	G	A	rs557332749	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75133660G>A	ENST00000539798.1	-	6	1715	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	KLHL35_ENST00000376292.4_Silent_p.H352H	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	572										lung(2)|stomach(1)	3						TGACACAGCCGTGGGAGCTGG	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		20001	0.0		0.0	False		,,,				2504	0.002				Colon(77;683 1691 18820 23811)	ENST00000539798.1																			0				lung(2)|stomach(1)	3						c.(1714-1716)caC>caT		kelch-like family member 35							49.0	53.0	52.0					11																	75133660		2117	4226	6343	SO:0001819	synonymous_variant	283212							g.chr11:75133660G>A		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1716C>T	11.37:g.75133660G>A						KLHL35_ENST00000376292.4_Silent_p.H352H	p.H572H	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN			6	1715	-			352					A2RU06|F5H412|Q86XM7|Q8NBB1	Silent	SNP	ENST00000539798.1	37	c.1716C>T	CCDS44685.2																																																																																				0.612	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		8	56	0	0	0	1	0	8	56				
PAPLN	89932	broad.mit.edu	37	14	73721704	73721704	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73721704G>A	ENST00000554301.1	+	13	1768	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	PAPLN_ENST00000381166.3_Silent_p.T535T|PAPLN_ENST00000555445.1_Silent_p.T535T|PAPLN_ENST00000340738.5_Silent_p.T508T|PAPLN_ENST00000427855.1_Silent_p.T535T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	535	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTTGTAACACGCAGCCCTGTC	0.642																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1603-1605)acG>acA		papilin, proteoglycan-like sulfated glycoprotein							37.0	37.0	37.0					14																	73721704		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73721704G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1605G>A	14.37:g.73721704G>A						PAPLN_ENST00000340738.5_Silent_p.T508T|PAPLN_ENST00000381166.3_Silent_p.T535T|PAPLN_ENST00000554301.1_Silent_p.T535T|PAPLN_ENST00000555445.1_Silent_p.T535T	p.T535T			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	14	1707	+			535			TSP type-1 5.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1605G>A																																																																																					0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		7	12	0	0	0	1	0	7	12				
RNF146	81847	broad.mit.edu	37	6	127608039	127608039	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127608039T>C	ENST00000368314.1	+	3	705	c.281T>C	c.(280-282)cTc>cCc	p.L94P	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.L94P|RNF146_ENST00000608991.1_Missense_Mutation_p.L93P|RNF146_ENST00000309649.3_Missense_Mutation_p.L93P|RNF146_ENST00000480444.1_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	94	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CCAGAAGAACTCAAGGCAGCA	0.463																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(280-282)cTc>cCc		ring finger protein 146							79.0	73.0	75.0					6																	127608039		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608039T>C	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.281T>C	6.37:g.127608039T>C	ENSP00000357297:p.Leu94Pro					RNF146_ENST00000356799.2_Missense_Mutation_p.L93P|RNF146_ENST00000309649.3_Missense_Mutation_p.L93P	p.L94P	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	705	+			94			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.281T>C	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021734	0.54576	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.31510	1.49;1.49;1.49	5.8	4.61	0.57282	WWE domain (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	T	0.02991	-1.1085	10	0.30854	T	0.27	-3.9796	13.0489	0.58944	0.0:0.0:0.1343:0.8657	.	94	Q9NTX7	RN146_HUMAN	P	94;93;93	ENSP00000357297:L94P;ENSP00000349253:L93P;ENSP00000309365:L93P	ENSP00000309365:L93P	L	+	2	0	RNF146	127649732	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.245000	0.72398	0.991000	0.38814	0.533000	0.62120	CTC		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		14	38	0	0	0	1	0	14	38				
SLC14A2	8170	broad.mit.edu	37	18	43253759	43253759	+	Missense_Mutation	SNP	C	C	T	rs184792239	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43253759C>T	ENST00000255226.6	+	18	3305	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.T307M|SLC14A2_ENST00000586448.1_Missense_Mutation_p.T830M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	830					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGCAGACGCACCTCCTC	0.478													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17859	0.001		0.0	False		,,,				2504	0.0					ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2488-2490)aCg>aTg		solute carrier family 14 (urea transporter), member 2							112.0	89.0	97.0					18																	43253759		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43253759C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2489C>T	18.37:g.43253759C>T	ENSP00000255226:p.Thr830Met					SLC14A2_ENST00000586448.1_Missense_Mutation_p.T830M|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.T307M	p.T830M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			18	3305	+			830					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2489C>T	CCDS11924.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	25.4	4.631550	0.87660	.	.	ENSG00000132874	ENST00000255226	T	0.53640	0.61	5.75	5.75	0.90469	.	0.096199	0.45126	D	0.000388	T	0.78591	0.4307	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83643	0.0151	10	0.87932	D	0	-15.3023	19.9421	0.97168	0.0:1.0:0.0:0.0	.	830	Q15849	UT2_HUMAN	M	830	ENSP00000255226:T830M	ENSP00000255226:T830M	T	+	2	0	SLC14A2	41507757	1.000000	0.71417	0.967000	0.41034	0.977000	0.68977	5.599000	0.67592	2.714000	0.92807	0.561000	0.74099	ACG		0.478	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			23	32	0	0	0	1	0	23	32				
MAEL	84944	broad.mit.edu	37	1	166958631	166958631	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:166958631C>T	ENST00000367872.4	+	1	286	c.42C>T	c.(40-42)ttC>ttT	p.F14F	MAEL_ENST00000367870.2_Silent_p.F14F	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	14					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTATTTCTTCGTGCAGGAGA	0.617																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(40-42)ttC>ttT		maelstrom spermatogenic transposon silencer							61.0	51.0	54.0					1																	166958631		2203	4299	6502	SO:0001819	synonymous_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166958631C>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.42C>T	1.37:g.166958631C>T						MAEL_ENST00000367870.2_Silent_p.F14F	p.F14F	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			1	286	+			14					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	c.42C>T	CCDS1257.1																																																																																				0.617	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		3	4	0	0	0	1	0	3	4				
WNK3	65267	broad.mit.edu	37	X	54224904	54224904	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54224904T>C	ENST00000375159.2	-	23	5255	c.5256A>G	c.(5254-5256)gtA>gtG	p.V1752V	WNK3_ENST00000354646.2_Silent_p.V1752V|WNK3_ENST00000375169.3_Silent_p.V1695V			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1752					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTACCCACTGTACTGGATACC	0.493																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5254-5256)gtA>gtG		WNK lysine deficient protein kinase 3							90.0	72.0	78.0					X																	54224904		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54224904T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.5256A>G	X.37:g.54224904T>C						WNK3_ENST00000375159.2_Silent_p.V1752V|WNK3_ENST00000375169.3_Silent_p.V1695V	p.V1752V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			24	5694	-			1695					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.5256A>G	CCDS14357.1																																																																																				0.493	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		4	43	0	0	0	1	0	4	43				
C1orf52	148423	broad.mit.edu	37	1	85724362	85724362	+	Missense_Mutation	SNP	G	G	A	rs201724861	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85724362G>A	ENST00000471115.1	-	2	328	c.320C>T	c.(319-321)cCt>cTt	p.P107L	C1orf52_ENST00000344356.5_Missense_Mutation_p.P107L|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	107							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GGTCTCAGGAGGTGGTACATA	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12289	0.0		0.0	False		,,,				2504	0.0					ENST00000471115.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10						c.(319-321)cCt>cTt		chromosome 1 open reading frame 52							87.0	80.0	83.0					1																	85724362		2203	4300	6503	SO:0001583	missense	148423							g.chr1:85724362G>A	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.320C>T	1.37:g.85724362G>A	ENSP00000419417:p.Pro107Leu					C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.P107L	p.P107L	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN		all cancers(265;0.0105)|Epithelial(280;0.0293)	2	328	-			107					B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	c.320C>T	CCDS703.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	27.6	4.844682	0.91197	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	L	0.45581	1.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73011	-0.4117	9	0.87932	D	0	-9.8038	18.4615	0.90739	0.0:0.0:1.0:0.0	.	107;107	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	L	107	.	ENSP00000345092:P107L	P	-	2	0	C1orf52	85496950	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.667000	0.91153	2.648000	0.89879	0.650000	0.86243	CCT		0.453	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		3	50	0	0	0	1	0	3	50				
DUOX2	50506	broad.mit.edu	37	15	45392018	45392018	+	Missense_Mutation	SNP	G	G	A	rs201362841		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45392018G>A	ENST00000603300.1	-	25	3459	c.3257C>T	c.(3256-3258)aCg>aTg	p.T1086M	DUOX2_ENST00000389039.6_Missense_Mutation_p.T1086M	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1086	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGGCCGCCGTGCCTCGTGA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21312	0.001		0.0	False		,,,				2504	0.0					ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3256-3258)aCg>aTg		dual oxidase 2							99.0	94.0	95.0					15																	45392018		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45392018G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3257C>T	15.37:g.45392018G>A	ENSP00000475084:p.Thr1086Met					DUOX2_ENST00000603300.1_Missense_Mutation_p.T1086M	p.T1086M			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	25	3642	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1086			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3257C>T	CCDS10117.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.5	4.543515	0.86022	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.6	5.6	0.85130	Flavoprotein transmembrane component (1);	0.051722	0.85682	D	0.000000	T	0.74824	0.3767	L	0.55481	1.735	0.53688	D	0.999974	D	0.58268	0.982	P	0.62298	0.9	T	0.76468	-0.2948	9	0.87932	D	0	-16.3366	18.6061	0.91266	0.0:0.0:1.0:0.0	.	1086	Q9NRD8	DUOX2_HUMAN	M	1086	.	ENSP00000373691:T1086M	T	-	2	0	DUOX2	43179310	1.000000	0.71417	0.993000	0.49108	0.586000	0.36452	9.782000	0.99034	2.653000	0.90120	0.563000	0.77884	ACG		0.567	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		9	29	0	0	0	1	0	9	29				
ZNF578	147660	broad.mit.edu	37	19	53015591	53015591	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53015591C>T	ENST00000421239.2	+	0	2017				CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGTAGGGAAACTTGACTAATG	0.393																																						ENST00000599143.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:53015591C>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468		19.37:g.53015591C>T														0	4	-								B4DR51|I3L1Y6	RNA	SNP	ENST00000421239.2	37		CCDS54310.1																																																																																				0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		4	49	0	0	0	1	0	4	49				
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm (GO:0005737)		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478																																						ENST00000374160.3																			1	Substitution - Missense(1)	p.R31C(1)	endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(91-93)Cgc>Tgc		leucine rich repeat containing 18							85.0	75.0	79.0					10																	50122110		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50122110G>A	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.91C>T	10.37:g.50122110G>A	ENSP00000363275:p.Arg31Cys					RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	p.R31C	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN			1	167	-			31		R -> H (in dbSNP:rs17772611).			Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.91C>T	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065149	0.76187	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.53206	0.63;0.63	6.06	6.06	0.98353	.	0.109676	0.56097	D	0.000023	T	0.61123	0.2322	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55418	-0.8144	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	31	Q8N456	LRC18_HUMAN	C	31	ENSP00000363275:R31C;ENSP00000298124:R31C	.	R	-	1	0	LRRC18	49792116	1.000000	0.71417	0.956000	0.39512	0.917000	0.54804	5.111000	0.64628	2.880000	0.98712	0.650000	0.86243	CGC		0.478	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		24	39	0	0	0	1	0	24	39				
GMPPA	29926	broad.mit.edu	37	2	220366664	220366664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220366664G>A	ENST00000358215.3	+	5	703	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	GMPPA_ENST00000341142.3_Missense_Mutation_p.V112M|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.V112M|GMPPA_ENST00000373917.3_Missense_Mutation_p.V112M|GMPPA_ENST00000373908.1_Missense_Mutation_p.V112M	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	112					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GGCATTCTTCGTGCTCAATGC	0.577																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(334-336)Gtg>Atg		GDP-mannose pyrophosphorylase A							173.0	157.0	163.0					2																	220366664		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220366664G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.334G>A	2.37:g.220366664G>A	ENSP00000350949:p.Val112Met					GMPPA_ENST00000373908.1_Missense_Mutation_p.V112M|GMPPA_ENST00000373917.3_Missense_Mutation_p.V112M|GMPPA_ENST00000313597.5_Missense_Mutation_p.V112M|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.V112M	p.V112M	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	5	703	+		Renal(207;0.0183)	112					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.334G>A	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511605	0.85389	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.75	4.75	0.60458	Nucleotidyl transferase (1);	0.068945	0.56097	D	0.000025	D	0.91646	0.7360	M	0.91663	3.23	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.984	D	0.93776	0.7079	10	0.87932	D	0	-1.1644	17.3737	0.87385	0.0:0.0:1.0:0.0	.	112;112	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	M	112;112;112;112;112;77;112;42	ENSP00000315925:V112M;ENSP00000363027:V112M;ENSP00000350949:V112M;ENSP00000363016:V112M;ENSP00000392465:V112M;ENSP00000411060:V77M;ENSP00000340760:V112M	ENSP00000315925:V112M	V	+	1	0	GMPPA	220074908	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.301000	0.65727	2.191000	0.70037	0.561000	0.74099	GTG		0.577	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		52	93	0	0	0	1	0	52	93				
DMXL1	1657	broad.mit.edu	37	5	118500881	118500881	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500881G>T	ENST00000311085.8	+	21	4956	c.4876G>T	c.(4876-4878)Gct>Tct	p.A1626S	DMXL1_ENST00000539542.1_Missense_Mutation_p.A1626S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1626										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTATAGGTAGCTAAAGCAGC	0.313																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4876-4878)Gct>Tct		Dmx-like 1							44.0	50.0	48.0					5																	118500881		2200	4285	6485	SO:0001583	missense	1657							g.chr5:118500881G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4876G>T	5.37:g.118500881G>T	ENSP00000309690:p.Ala1626Ser					DMXL1_ENST00000539542.1_Missense_Mutation_p.A1626S	p.A1626S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	21	4956	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1626						Missense_Mutation	SNP	ENST00000311085.8	37	c.4876G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065516	0.93898	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.68903	-0.36;-0.36	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87084	0.2168	10	0.66056	D	0.02	-8.6554	20.0205	0.97499	0.0:0.0:1.0:0.0	.	1626;1626	F5H269;Q9Y485	.;DMXL1_HUMAN	S	1626	ENSP00000309690:A1626S;ENSP00000439479:A1626S	ENSP00000309690:A1626S	A	+	1	0	DMXL1	118528780	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.801000	0.96364	0.650000	0.86243	GCT		0.313	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		12	28	1	0	7.03913e-09	1	8.47891e-09	12	28				
CLK3	1198	broad.mit.edu	37	15	74911560	74911560	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74911560G>A	ENST00000395066.3	+	2	928	c.467G>A	c.(466-468)cGc>cAc	p.R156H	CLK3_ENST00000345005.4_Missense_Mutation_p.R8H|CLK3_ENST00000352989.5_Missense_Mutation_p.R8H|CLK3_ENST00000348245.3_Missense_Mutation_p.R8H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	156					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AAGCGATACCGCTCCCCTGAA	0.607																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(466-468)cGc>cAc		CDC-like kinase 3							188.0	175.0	179.0					15																	74911560		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911560G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.467G>A	15.37:g.74911560G>A	ENSP00000378505:p.Arg156His					CLK3_ENST00000352989.5_Missense_Mutation_p.R8H|CLK3_ENST00000345005.4_Missense_Mutation_p.R8H|CLK3_ENST00000348245.3_Missense_Mutation_p.R8H	p.R156H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			2	928	+			156					D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.467G>A	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948782	0.53186	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T;T	0.56941	0.68;0.43;0.69	4.64	4.64	0.57946	.	0.179648	0.40908	D	0.000994	T	0.47911	0.1471	N	0.08118	0	0.43841	D	0.996425	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.83275	0.987;0.996;0.923	T	0.38394	-0.9663	10	0.02654	T	1	.	15.4596	0.75342	0.0:0.0:1.0:0.0	.	156;156;8	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	H	8;8;156;8;8	ENSP00000344112:R8H;ENSP00000378505:R8H;ENSP00000323106:R8H	ENSP00000344112:R8H	R	+	2	0	CLK3	72698613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.851000	0.48302	2.405000	0.81733	0.655000	0.94253	CGC		0.607	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			51	78	0	0	0	1	0	51	78				
WRN	7486	broad.mit.edu	37	8	30973987	30973987	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30973987C>T	ENST00000298139.5	+	20	2640	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	797	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCATGCGGGCATGAGTTTTA	0.398			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2389-2391)ggC>ggT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							128.0	119.0	122.0					8																	30973987		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30973987C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2391C>T	8.37:g.30973987C>T							p.G797G	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	20	2640	+		Breast(100;0.195)	797			Helicase C-terminal.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.2391C>T	CCDS6082.1																																																																																				0.398	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			39	68	0	0	0	1	0	39	68				
GPNMB	10457	broad.mit.edu	37	7	23299713	23299713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23299713C>T	ENST00000381990.2	+	5	817	c.656C>T	c.(655-657)gCa>gTa	p.A219V	GPNMB_ENST00000453162.2_Missense_Mutation_p.A161V|GPNMB_ENST00000258733.4_Missense_Mutation_p.A219V|GPNMB_ENST00000539136.1_Missense_Mutation_p.A120V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	219					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CATGGACGGGCATATGTTCCC	0.468																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(655-657)gCa>gTa		glycoprotein (transmembrane) nmb							172.0	153.0	160.0					7																	23299713		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23299713C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.656C>T	7.37:g.23299713C>T	ENSP00000371420:p.Ala219Val					GPNMB_ENST00000539136.1_Missense_Mutation_p.A120V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A219V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A161V	p.A219V			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		5	951	+			219					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.656C>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880650	0.33255	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.85	1.9	0.25705	.	0.966163	0.08576	N	0.925356	T	0.15219	0.0367	M	0.63428	1.95	0.09310	N	1	B;B;B;B	0.14805	0.009;0.011;0.011;0.003	B;B;B;B	0.21546	0.035;0.009;0.015;0.005	T	0.35919	-0.9769	9	.	.	.	-0.9529	5.9699	0.19346	0.2212:0.3963:0.3218:0.0607	.	120;161;219;219	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	V	219;254;219;102;120;161	ENSP00000258733:A219V;ENSP00000371420:A219V;ENSP00000445266:A120V;ENSP00000405586:A161V	.	A	+	2	0	GPNMB	23266238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.110000	0.15437	0.387000	0.25024	-0.824000	0.03097	GCA		0.468	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		37	49	0	0	0	1	0	37	49				
SPG20	23111	broad.mit.edu	37	13	36909330	36909330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36909330G>A	ENST00000451493.1	-	2	855	c.638C>T	c.(637-639)aCc>aTc	p.T213I	SPG20_ENST00000355182.4_Missense_Mutation_p.T213I|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.T213I|SPG20_ENST00000494062.2_Missense_Mutation_p.T213I	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	213					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGCCCTAAGGTCTCAAGAGG	0.443																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(637-639)aCc>aTc		spastic paraplegia 20 (Troyer syndrome)							67.0	66.0	66.0					13																	36909330		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909330G>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.638C>T	13.37:g.36909330G>A	ENSP00000414147:p.Thr213Ile					SPG20_ENST00000438666.2_Missense_Mutation_p.T213I|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.T213I|SPG20_ENST00000355182.4_Missense_Mutation_p.T213I	p.T213I	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	2	855	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	213					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.638C>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260902	0.23051	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89050	-2.46;-2.46;-2.46	5.82	-0.795	0.10915	.	0.299113	0.41396	D	0.000899	D	0.84252	0.5431	L	0.47716	1.5	0.25876	N	0.98365	P;P;P	0.44946	0.756;0.846;0.549	B;B;B	0.41374	0.265;0.355;0.265	T	0.78081	-0.2343	10	0.46703	T	0.11	-3.4962	14.8453	0.70257	0.0:0.6229:0.1755:0.2016	.	213;213;213	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	I	213	ENSP00000406061:T213I;ENSP00000347314:T213I;ENSP00000414147:T213I	ENSP00000347314:T213I	T	-	2	0	SPG20	35807330	1.000000	0.71417	0.247000	0.24249	0.033000	0.12548	1.445000	0.35079	-0.177000	0.10690	0.650000	0.86243	ACC		0.443	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			27	38	0	0	0	1	0	27	38				
BEND5	79656	broad.mit.edu	37	1	49224836	49224836	+	Missense_Mutation	SNP	C	C	T	rs374150750		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:49224836C>T	ENST00000371833.3	-	3	567	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	161						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GAGGCCTCCACGAAGACCTCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17126	0.001		0.0	False		,,,				2504	0.0					ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(481-483)Gtg>Atg		BEN domain containing 5							54.0	53.0	53.0					1																	49224836		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49224836C>T	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.481G>A	1.37:g.49224836C>T	ENSP00000360899:p.Val161Met					AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	p.V161M	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			3	567	-			161					D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.481G>A	CCDS552.2	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059481	0.36373	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.73	3.84	0.44239	.	0.409325	0.27460	N	0.019268	T	0.11281	0.0275	N	0.01874	-0.695	0.29752	N	0.836239	B	0.11235	0.004	B	0.04013	0.001	T	0.13818	-1.0495	8	.	.	.	-0.8649	3.8263	0.08855	0.1828:0.5832:0.0:0.234	.	161	Q7L4P6	BEND5_HUMAN	M	161	.	.	V	-	1	0	BEND5	48997423	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.673000	0.25203	1.565000	0.49641	0.655000	0.94253	GTG		0.612	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		7	13	0	0	0	1	0	7	13				
CACNA1E	777	broad.mit.edu	37	1	181705510	181705510	+	Missense_Mutation	SNP	G	G	A	rs370899738		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181705510G>A	ENST00000367573.2	+	22	3362	c.3362G>A	c.(3361-3363)cGt>cAt	p.R1121H	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1053H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1072H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1102H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1102H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R728H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1121H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1121					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						aaggagaagCGTGAGACAGGC	0.547																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3304-3306)cGt>cAt		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4349		0,1,2174	97.0	123.0	114.0		3362,3362,3305	3.2	1.0	1		114	0,8518		0,0,4259	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,1,6433	AA,AG,GG		0.0,0.023,0.0078	possibly-damaging,possibly-damaging,possibly-damaging	1121/2271,1121/2314,1102/2252	181705510	1,12867	2175	4259	6434	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181705510G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3362G>A	1.37:g.181705510G>A	ENSP00000356545:p.Arg1121His					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R728H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1072H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1121H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1102H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1121H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1053H	p.R1102H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			21	3470	+			1121					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3305G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250508	0.39797	2.3E-4	0.0	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.28	3.19	0.36642	.	5.512780	0.00166	N	0.000008	T	0.41050	0.1142	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46020	0.799;0.664;0.871	B;B;B	0.42361	0.121;0.223;0.385	T	0.56408	-0.7984	10	0.66056	D	0.02	.	15.6919	0.77461	0.0:0.3307:0.6693:0.0	.	1102;1121;1121	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1121;1102;1072;1053;728;1102;1121	ENSP00000356542:R1121H;ENSP00000434814:R1102H;ENSP00000350183:R1072H;ENSP00000351101:R1053H;ENSP00000356539:R728H;ENSP00000353222:R1102H;ENSP00000356545:R1121H	ENSP00000350183:R1072H	R	+	2	0	CACNA1E	179972133	0.031000	0.19500	0.964000	0.40570	0.966000	0.64601	0.337000	0.19841	1.159000	0.42565	0.555000	0.69702	CGT		0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	13	0	0	0	1	0	3	13				
RNF111	54778	broad.mit.edu	37	15	59373204	59373204	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59373204C>A	ENST00000557998.1	+	8	2305	c.2018C>A	c.(2017-2019)cCt>cAt	p.P673H	RNF111_ENST00000559209.1_Missense_Mutation_p.P673H|RNF111_ENST00000561186.1_Missense_Mutation_p.P673H|RNF111_ENST00000434298.1_Missense_Mutation_p.P673H|RNF111_ENST00000348370.4_Missense_Mutation_p.P673H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	673	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AACCCCCCTCCTCAGACTCAG	0.448																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2017-2019)cCt>cAt		ring finger protein 111							181.0	167.0	172.0					15																	59373204		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59373204C>A	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2018C>A	15.37:g.59373204C>A	ENSP00000452732:p.Pro673His					RNF111_ENST00000559209.1_Missense_Mutation_p.P673H|RNF111_ENST00000434298.1_Missense_Mutation_p.P673H|RNF111_ENST00000557998.1_Missense_Mutation_p.P673H|RNF111_ENST00000561186.1_Missense_Mutation_p.P673H	p.P673H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	8	2451	+			673			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2018C>A	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929895	0.73327	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15372	2.44;2.43	5.58	4.67	0.58626	.	0.198094	0.45126	D	0.000388	T	0.21761	0.0524	L	0.39898	1.24	0.41637	D	0.989054	P;P;P	0.49862	0.929;0.856;0.911	P;B;P	0.49047	0.599;0.319;0.518	T	0.01330	-1.1383	10	0.62326	D	0.03	-15.7035	12.8324	0.57754	0.0:0.9245:0.0:0.0755	.	673;673;673	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	673	ENSP00000288199:P673H;ENSP00000393641:P673H	ENSP00000288199:P673H	P	+	2	0	RNF111	57160496	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.566000	0.67372	1.384000	0.46424	0.467000	0.42956	CCT		0.448	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		7	126	1	0	3.09899e-07	1	3.63227e-07	7	126				
SATB1	6304	broad.mit.edu	37	3	18457582	18457582	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18457582G>A	ENST00000338745.6	-	4	2166	c.432C>T	c.(430-432)taC>taT	p.Y144Y	SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000417717.2_Silent_p.Y144Y|SATB1_ENST00000454909.2_Silent_p.Y144Y|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	144	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATCTGTCACGTAAGACAGTG	0.388																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(430-432)taC>taT		SATB homeobox 1							117.0	107.0	111.0					3																	18457582		2203	4300	6503	SO:0001819	synonymous_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18457582G>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.432C>T	3.37:g.18457582G>A						TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Silent_p.Y144Y|SATB1_ENST00000417717.2_Silent_p.Y144Y	p.Y144Y	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			4	2166	-			144			PDZ-like dimerization domain.		B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	c.432C>T	CCDS2631.1																																																																																				0.388	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		32	61	0	0	0	1	0	32	61				
RASSF5	83593	broad.mit.edu	37	1	206760238	206760238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206760238G>A	ENST00000355294.4	+	6	1242	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Silent_p.V242V|RASSF5_ENST00000367117.3_3'UTR|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	395	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAACAAGTGCAAAAGAAGT	0.502																																					GBM(162;656 1984 11916 22872 31529)	ENST00000304534.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(724-726)gtG>gtA		Ras association (RalGDS/AF-6) domain family member 5							112.0	113.0	113.0					1																	206760238		2203	4300	6503	SO:0001819	synonymous_variant	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206760238G>A	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1185G>A	1.37:g.206760238G>A						RASSF5_ENST00000355294.4_Silent_p.V395V|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000338603.2_Intron	p.V242V	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		5	1135	+	Breast(84;0.183)		395					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Silent	SNP	ENST00000355294.4	37	c.726G>A	CCDS30998.1																																																																																				0.502	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		42	56	0	0	0	1	0	42	56				
MUC17	140453	broad.mit.edu	37	7	100675687	100675687	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675687T>G	ENST00000306151.4	+	3	1054	c.990T>G	c.(988-990)acT>acG	p.T330T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	330	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTTATACTGAAGGAAGCA	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(988-990)acT>acG		mucin 17, cell surface associated							169.0	179.0	175.0					7																	100675687		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675687T>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.990T>G	7.37:g.100675687T>G							p.T330T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1054	+	Lung NSC(181;0.136)|all_lung(186;0.182)		330			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.990T>G	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		13	208	0	0	0	1	0	13	208				
TSHR	7253	broad.mit.edu	37	14	81606117	81606117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81606117C>T	ENST00000541158.2	+	10	1109	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.L263F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	263					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTTAAGAAACTTCCACTTTC	0.483			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(787-789)Ctt>Ttt		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						111.0	88.0	96.0					14																	81606117		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81606117C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.787C>T	14.37:g.81606117C>T	ENSP00000441235:p.Leu263Phe					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.L263F	p.L263F			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1109	+			263					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.787C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115170	0.77210	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.78816	-1.21;-1.21	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.74467	2.265	0.80722	D	1	D	0.54772	0.968	D	0.63381	0.914	D	0.85375	0.1116	10	0.87932	D	0	.	7.0991	0.25327	0.0:0.7938:0.0:0.2062	.	263	F5GYU5	.	F	263	ENSP00000441235:L263F;ENSP00000298171:L263F	ENSP00000298171:L263F	L	+	1	0	TSHR	80675870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.324000	0.52022	2.567000	0.86603	0.655000	0.94253	CTT		0.483	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		22	24	0	0	0	1	0	22	24				
MYH9	4627	broad.mit.edu	37	22	36684352	36684352	+	Silent	SNP	G	G	A	rs143947828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36684352G>A	ENST00000216181.5	-	34	5108	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1626			I -> V (in dbSNP:rs2269529). {ECO:0000269|PubMed:11776386}.		actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCGAGTCGATGTGCGCCT	0.647			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				.|||	2	0.000399361	0.0	0.0	5008	,	,		16096	0.0		0.001	False		,,,				2504	0.001					ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4876-4878)atC>atT		myosin, heavy chain 9, non-muscle		G		1,4405	2.1+/-5.4	0,1,2202	125.0	101.0	109.0		4878	-6.8	0.5	22	dbSNP_134	109	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	MYH9	NM_002473.4		0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769		1626/1961	36684352	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36684352G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4878C>T	22.37:g.36684352G>A							p.I1626I	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			34	5108	-			1626		I -> V (in dbSNP:rs2269529).			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.4878C>T	CCDS13927.1																																																																																				0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		50	70	0	0	0	1	0	50	70				
TEX37	200523	broad.mit.edu	37	2	88828648	88828648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88828648G>T	ENST00000303254.3	+	4	341	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	67						nucleus (GO:0005634)											GCTAACAGATGGGTACCCTGC	0.547																																						ENST00000303254.3																			0											c.(199-201)Ggg>Tgg		testis expressed 37							101.0	96.0	98.0					2																	88828648		2203	4300	6503	SO:0001583	missense	200523							g.chr2:88828648G>T	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.199G>T	2.37:g.88828648G>T	ENSP00000307142:p.Gly67Trp						p.G67W	NM_152670.2	NP_689883.1					4	341	+									Missense_Mutation	SNP	ENST00000303254.3	37	c.199G>T	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407449	0.42715	.	.	ENSG00000172073	ENST00000303254	T	0.61742	0.08	4.61	3.73	0.42828	.	0.000000	0.48767	D	0.000175	T	0.63640	0.2528	L	0.36672	1.1	0.33391	D	0.57615	D	0.89917	1.0	D	0.87578	0.998	T	0.72418	-0.4300	10	0.87932	D	0	-11.759	8.7463	0.34589	0.1034:0.0:0.8966:0.0	.	67	Q96LM6	TSC21_HUMAN	W	67	ENSP00000307142:G67W	ENSP00000307142:G67W	G	+	1	0	C2orf51	88609763	0.987000	0.35691	0.631000	0.29282	0.466000	0.32739	3.932000	0.56537	1.310000	0.45006	0.462000	0.41574	GGG		0.547	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		19	37	1	0	1.67942e-08	1	2.01326e-08	19	37				
STAG2	10735	broad.mit.edu	37	X	123179218	123179218	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123179218G>T	ENST00000371160.1	+	8	957	c.667G>T	c.(667-669)Gct>Tct	p.A223S	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Splice_Site_p.A223S|STAG2_ENST00000354548.5_Splice_Site_p.A154S|STAG2_ENST00000371157.3_Splice_Site_p.A223S|STAG2_ENST00000218089.9_Splice_Site_p.A223S|STAG2_ENST00000371144.3_Splice_Site_p.A223S	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	223					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CACCCTGGCAGGTCGGTATTT	0.323																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.e8+1		stromal antigen 2							97.0	93.0	95.0					X																	123179218		2203	4299	6502	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179218G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.667+1G>T	X.37:g.123179218G>T						STAG2_ENST00000354548.5_Splice_Site_p.A154_splice|STAG2_ENST00000218089.9_Splice_Site_p.A223_splice|STAG2_ENST00000371145.3_Splice_Site_p.A223_splice|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site_p.A223_splice|STAG2_ENST00000371157.3_Splice_Site_p.A223_splice	p.A223_splice			Q8N3U4	STAG2_HUMAN			8	957	+			223					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.667_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251802	0.95336	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.12	5.12	0.69794	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.59768	-0.7392	10	0.42905	T	0.14	-8.486	17.8988	0.88897	0.0:0.0:1.0:0.0	.	223;223	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	S	223;223;154;223;223;223;223	ENSP00000218089:A223S;ENSP00000397265:A223S;ENSP00000346555:A154S;ENSP00000360202:A223S;ENSP00000360199:A223S;ENSP00000360187:A223S;ENSP00000360186:A223S	ENSP00000218089:A223S	A	+	1	0	STAG2	123006899	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.751000	0.98889	2.246000	0.74042	0.544000	0.68410	GCT		0.323	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Missense_Mutation	6	194	1	0	0.00116845	1	0.00124821	6	194				
TRPM3	80036	broad.mit.edu	37	9	73426150	73426150	+	Silent	SNP	C	C	T	rs200079844	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73426150C>T	ENST00000396292.4	-	5	524	c.525G>A	c.(523-525)ccG>ccA	p.P175P	MIR204_ENST00000385200.1_RNA|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000360823.2_Silent_p.P175P|TRPM3_ENST00000358082.3_Silent_p.P175P|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000377106.1_Silent_p.P175P|TRPM3_ENST00000396283.1_Silent_p.P175P|TRPM3_ENST00000423814.3_Silent_p.P330P|TRPM3_ENST00000377110.3_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	328					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGAGAAAAACGGCAGGCATC	0.338													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18394	0.001		0.0	False		,,,				2504	0.0					ENST00000377106.1																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(523-525)ccG>ccA		transient receptor potential cation channel, subfamily M, member 3							60.0	64.0	63.0					9																	73426150		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73426150C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000396292.4:c.525G>A	9.37:g.73426150C>T						TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000358082.3_Silent_p.P175P|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000423814.3_Silent_p.P330P|TRPM3_ENST00000360823.2_Silent_p.P175P|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396283.1_Silent_p.P175P|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Silent_p.P175P|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396285.1_Intron	p.P175P	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN			7	879	-			328					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000396292.4	37	c.525G>A	CCDS6635.1																																																																																				0.338	TRPM3-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214161.2	NM_206945		5	11	0	0	0	1	0	5	11				
KIAA0100	9703	broad.mit.edu	37	17	26961728	26961728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26961728C>T	ENST00000528896.2	-	16	2951	c.2877G>A	c.(2875-2877)atG>atA	p.M959I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.M816I|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.M816I|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	959						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGCCCGGCGCATGGGTGTGT	0.527																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2875-2877)atG>atA		KIAA0100							108.0	107.0	107.0					17																	26961728		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26961728C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2877G>A	17.37:g.26961728C>T	ENSP00000436773:p.Met959Ile					KIAA0100_ENST00000389003.3_Missense_Mutation_p.M816I|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.M816I	p.M959I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	2951	-	Lung NSC(42;0.00431)		959					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.2877G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605207	0.66445	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23552	1.9;1.9	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	L	0.53249	1.67	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.03728	-1.1009	10	0.17832	T	0.49	.	20.2652	0.98459	0.0:1.0:0.0:0.0	.	959	Q14667	K0100_HUMAN	I	959;929;959;816	ENSP00000436773:M959I;ENSP00000446443:M816I	ENSP00000005905:M959I	M	-	3	0	KIAA0100	23985855	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.320000	0.79064	2.796000	0.96246	0.563000	0.77884	ATG		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		10	100	0	0	0	1	0	10	100				
HLA-DRB1	3123	broad.mit.edu	37	6	32557480	32557480	+	Missense_Mutation	SNP	C	C	T	rs17878475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32557480C>T	ENST00000360004.5	-	1	145	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	14					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						ACTGTCAGCGCTGTCATGCAG	0.592										Multiple Myeloma(14;0.17)																												ENST00000360004.5																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						c.(40-42)Gcg>Acg		major histocompatibility complex, class II, DR beta 1							88.0	108.0	101.0					6																	32557480		1511	2709	4220	SO:0001583	missense	3123							g.chr6:32557480C>T	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.40G>A	6.37:g.32557480C>T	ENSP00000353099:p.Ala14Thr	Multiple Myeloma(14;0.17)					p.A14T	NM_002124.3	NP_002115.2					1	145	-								P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	c.40G>A	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.894944	0.33442	.	.	ENSG00000196126	ENST00000360004	T	0.00274	8.35	4.4	2.6	0.31112	MHC classes I/II-like antigen recognition protein (1);	0.965897	0.08531	N	0.932108	T	0.00039	0.0001	N	0.12502	0.225	0.09310	N	1	B	0.28713	0.22	B	0.24541	0.054	T	0.05099	-1.0906	10	0.72032	D	0.01	.	6.0663	0.19866	0.0:0.7068:0.1898:0.1034	rs17878475	14	P01911	2B1F_HUMAN	T	14	ENSP00000353099:A14T	ENSP00000353099:A14T	A	-	1	0	HLA-DRB1	32665458	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.214000	0.17541	0.486000	0.27676	0.462000	0.41574	GCG		0.592	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		5	48	0	0	0	1	0	5	48				
ACSS2	55902	broad.mit.edu	37	20	33501898	33501898	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501898G>A	ENST00000360596.2	+	6	854		c.e6-1		ACSS2_ENST00000253382.5_Splice_Site|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Splice_Site	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCCCCAAAGATGCCTTCTA	0.542																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.e6-1		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						83.0	81.0	82.0					20																	33501898		2203	4300	6503	SO:0001630	splice_region_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33501898G>A	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.644-1G>A	20.37:g.33501898G>A						ACSS2_ENST00000336325.4_Splice_Site|ACSS2_ENST00000253382.5_Splice_Site|ACSS2_ENST00000476922.1_Intron		NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			6	854	+								A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Splice_Site	SNP	ENST00000360596.2	37		CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918659	0.73098	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000253382	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0207	0.92915	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSS2	32965559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.186000	0.94906	2.729000	0.93468	0.655000	0.94253	.		0.542	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677	Intron	5	20	0	0	0	1	0	5	20				
KLHL14	57565	broad.mit.edu	37	18	30260482	30260482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260482C>A	ENST00000359358.4	-	6	1757	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	440						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCACTCCACGCTGGACAAGTA	0.473																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1318-1320)aGc>aTc		kelch-like family member 14							97.0	94.0	95.0					18																	30260482		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260482C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1319G>T	18.37:g.30260482C>A	ENSP00000352314:p.Ser440Ile						p.S440I	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			6	1757	-			440					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1319G>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466844	0.84425	.	.	ENSG00000197705	ENST00000359358	T	0.81247	-1.47	5.58	5.58	0.84498	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	M	0.88640	2.97	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.92545	0.6045	10	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	440	Q9P2G3	KLH14_HUMAN	I	440	ENSP00000352314:S440I	ENSP00000352314:S440I	S	-	2	0	KLHL14	28514480	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.445000	0.80570	2.780000	0.95670	0.655000	0.94253	AGC		0.473	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			10	40	1	0	3.86212e-05	1	4.30401e-05	10	40				
THOC6	79228	broad.mit.edu	37	16	3075782	3075782	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075782T>C	ENST00000326266.8	+	2	409	c.113T>C	c.(112-114)tTt>tCt	p.F38S	THOC6_ENST00000253952.9_Missense_Mutation_p.F38S|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.F14S|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.F14S	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	38					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTGGGAAGTTTCTGGCGGCT	0.582																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(112-114)tTt>tCt		THO complex 6 homolog (Drosophila)							124.0	116.0	119.0					16																	3075782		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3075782T>C	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.113T>C	16.37:g.3075782T>C	ENSP00000326531:p.Phe38Ser					THOC6_ENST00000575576.1_Missense_Mutation_p.F14S|THOC6_ENST00000253952.9_Missense_Mutation_p.F38S|THOC6_ENST00000574549.1_Missense_Mutation_p.F14S	p.F38S	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			2	409	+			38					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.113T>C	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678923	0.68042	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.64803	-0.12;1.56	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.115723	0.64402	D	0.000013	T	0.66025	0.2748	L	0.43152	1.355	0.48452	D	0.999654	D;D	0.61080	0.989;0.981	P;P	0.61201	0.885;0.69	T	0.64198	-0.6464	10	0.32370	T	0.25	-5.8384	8.6913	0.34269	0.1695:0.0:0.0:0.8305	.	38;38	Q86W42-3;Q86W42	.;THOC6_HUMAN	S	38	ENSP00000326531:F38S;ENSP00000253952:F38S	ENSP00000253952:F38S	F	+	2	0	THOC6	3015783	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.112000	0.50368	2.009000	0.58944	0.459000	0.35465	TTT		0.582	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		24	40	0	0	0	1	0	24	40				
LRRN2	10446	broad.mit.edu	37	1	204587656	204587656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587656C>T	ENST00000367175.1	-	1	3677	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A489T|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.A489T|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	489	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCTCTTCTGCTGTCACCCTC	0.637																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1465-1467)Gca>Aca		leucine rich repeat neuronal 2							63.0	61.0	61.0					1																	204587656		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587656C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1465G>A	1.37:g.204587656C>T	ENSP00000356143:p.Ala489Thr					LRRN2_ENST00000367176.3_Missense_Mutation_p.A489T|LRRN2_ENST00000367177.3_Missense_Mutation_p.A489T	p.A489T			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3677	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		489			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1465G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055203	0.19907	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67345	-0.26;-0.26;-0.26	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168797	0.28057	N	0.016769	T	0.54775	0.1879	L	0.27944	0.81	0.28770	N	0.900442	B	0.29862	0.259	B	0.30943	0.122	T	0.42430	-0.9452	10	0.11794	T	0.64	.	18.7397	0.91769	0.0:1.0:0.0:0.0	.	489	O75325	LRRN2_HUMAN	T	489	ENSP00000356144:A489T;ENSP00000356145:A489T;ENSP00000356143:A489T	ENSP00000356143:A489T	A	-	1	0	LRRN2	202854279	0.042000	0.20092	0.012000	0.15200	0.371000	0.29859	3.281000	0.51685	2.516000	0.84829	0.591000	0.81541	GCA		0.637	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		15	26	0	0	0	1	0	15	26				
CYB561	1534	broad.mit.edu	37	17	61511949	61511949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61511949C>A	ENST00000392976.1	-	6	869	c.570G>T	c.(568-570)aaG>aaT	p.K190N	CYB561_ENST00000448884.2_Missense_Mutation_p.V138L|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000581573.1_Missense_Mutation_p.K190N|CYB561_ENST00000582034.1_Missense_Mutation_p.K161N|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000360793.3_Missense_Mutation_p.K190N|CYB561_ENST00000542042.1_Missense_Mutation_p.K257N|CYB561_ENST00000392975.2_Missense_Mutation_p.K190N|CYB561_ENST00000582997.1_Missense_Mutation_p.K197N	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	190	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		ATGCGCTATACTTGCCCCTGC	0.602																																						ENST00000392976.1																			0				lung(2)|ovary(1)|prostate(1)	4						c.(568-570)aaG>aaT		cytochrome b561							36.0	37.0	37.0					17																	61511949		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61511949C>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.570G>T	17.37:g.61511949C>A	ENSP00000376702:p.Lys190Asn					CYB561_ENST00000392975.2_Missense_Mutation_p.K190N|CYB561_ENST00000448884.2_Missense_Mutation_p.V138L|CYB561_ENST00000360793.3_Missense_Mutation_p.K190N|CYB561_ENST00000582997.1_Missense_Mutation_p.K197N|CYB561_ENST00000542042.1_Missense_Mutation_p.K257N|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582034.1_Missense_Mutation_p.K161N|CYB561_ENST00000581573.1_Missense_Mutation_p.K190N|CYB561_ENST00000582297.1_Intron	p.K190N	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	6	869	-			190			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.570G>T	CCDS11636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.313|8.313	0.822613|0.822613	0.16678|0.16678	.|.	.|.	ENSG00000008283|ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000542042|ENST00000448884	T;T;T;T|.	0.65732|.	-0.15;-0.15;-0.15;-0.17|.	4.98|4.98	1.86|1.86	0.25419|0.25419	Cytochrome b561/ferric reductase transmembrane (1);|.	0.538263|.	0.20883|.	N|.	0.083974|.	T|T	0.38665|0.38665	0.1049|0.1049	L|L	0.39020|0.39020	1.185|1.185	0.32834|0.32834	D|D	0.504407|0.504407	P;B|B	0.38370|0.02656	0.628;0.008|0.0	B;B|B	0.36922|0.08055	0.236;0.006|0.003	T|T	0.40403|0.40403	-0.9565|-0.9565	10|8	0.17832|0.21540	T|T	0.49|0.41	-0.9914|-0.9914	9.5493|9.5493	0.39299|0.39299	0.1527:0.4024:0.4449:0.0|0.1527:0.4024:0.4449:0.0	.|.	257;190|138	F5H757;P49447|B7Z775	.;CY561_HUMAN|.	N|L	190;190;190;257|138	ENSP00000354028:K190N;ENSP00000376702:K190N;ENSP00000376701:K190N;ENSP00000442773:K257N|.	ENSP00000354028:K190N|ENSP00000400350:V138L	K|V	-|-	3|1	2|0	CYB561|CYB561	58865681|58865681	1.000000|1.000000	0.71417|0.71417	0.353000|0.353000	0.25747|0.25747	0.000000|0.000000	0.00434|0.00434	1.424000|1.424000	0.34848|0.34848	0.277000|0.277000	0.22141|0.22141	-1.083000|-1.083000	0.02208|0.02208	AAG|GTA		0.602	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		4	9	1	0	0.150653	1	0.152692	4	9				
PSG4	5672	broad.mit.edu	37	19	43708105	43708105	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43708105G>T	ENST00000405312.3	-	2	600	c.363C>A	c.(361-363)acC>acA	p.T121T	PSG4_ENST00000244295.9_Silent_p.T121T|PSG4_ENST00000433626.2_Silent_p.T121T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	121	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.483																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(361-363)acC>acA		pregnancy specific beta-1-glycoprotein 4							263.0	267.0	266.0					19																	43708105		2138	4272	6410	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43708105G>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.363C>A	19.37:g.43708105G>T						PSG4_ENST00000244295.9_Silent_p.T121T|PSG4_ENST00000433626.2_Silent_p.T121T	p.T121T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			2	600	-		Prostate(69;0.00682)	121			Ig-like V-type.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.363C>A	CCDS46093.1																																																																																				0.483	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		82	135	1	0	2.80266e-47	1	3.78813e-47	82	135				
GLA	2717	broad.mit.edu	37	X	100662704	100662704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662704C>T	ENST00000218516.3	-	1	209	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	HNRNPH2_ENST00000316594.5_5'Flank|GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	63					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATACCTGATGCAGGAATCTGG	0.537																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14	GRCh37	CM051519	GLA	M		c.(187-189)tGc>tAc		galactosidase, alpha	Agalsidase beta(DB00103)						127.0	124.0	125.0					X																	100662704		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100662704C>T	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.188G>A	X.37:g.100662704C>T	ENSP00000218516:p.Cys63Tyr					GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.C63Y	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			1	209	-			63					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.188G>A	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490872	0.84962	.	.	ENSG00000102393	ENST00000218516	D	0.99797	-6.79	5.44	5.44	0.79542	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.088926	0.85682	D	0.000000	D	0.99782	0.9909	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.97253	0.9899	9	0.87932	D	0	-19.6796	18.3055	0.90179	0.0:1.0:0.0:0.0	.	63;63	B4DLT5;P06280	.;AGAL_HUMAN	Y	63	ENSP00000218516:C63Y	ENSP00000218516:C63Y	C	-	2	0	GLA	100549360	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.333000	0.79214	2.517000	0.84864	0.600000	0.82982	TGC		0.537	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			5	98	0	0	0	1	0	5	98				
ITPR2	3709	broad.mit.edu	37	12	26777268	26777268	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26777268T>C	ENST00000381340.3	-	24	3502	c.3086A>G	c.(3085-3087)gAa>gGa	p.E1029G	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1029					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGCTGCAATTTCATCTATATC	0.284																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3085-3087)gAa>gGa		inositol 1,4,5-trisphosphate receptor, type 2							98.0	94.0	95.0					12																	26777268		1806	4065	5871	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26777268T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3086A>G	12.37:g.26777268T>C	ENSP00000370744:p.Glu1029Gly					RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	p.E1029G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			24	3502	-	Colorectal(261;0.0847)		1029					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3086A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383970	0.42308	.	.	ENSG00000123104	ENST00000381340	T	0.43688	0.94	4.74	4.74	0.60224	.	0.167420	0.53938	D	0.000056	T	0.34919	0.0914	L	0.57536	1.79	0.80722	D	1	P	0.43352	0.804	B	0.36464	0.225	T	0.18555	-1.0333	10	0.37606	T	0.19	.	9.2676	0.37650	0.0:0.0807:0.0:0.9193	.	1029	Q14571	ITPR2_HUMAN	G	1029	ENSP00000370744:E1029G	ENSP00000370744:E1029G	E	-	2	0	ITPR2	26668535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.375000	0.59549	2.120000	0.65058	0.528000	0.53228	GAA		0.284	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		11	104	0	0	0	1	0	11	104				
PCSK7	9159	broad.mit.edu	37	11	117096678	117096678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117096678G>A	ENST00000320934.3	-	6	1459	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	PCSK7_ENST00000540028.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	277	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATCTGATAGTGCTTGTTGAAC	0.542			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(829-831)Cac>Tac		proprotein convertase subtilisin/kexin type 7							146.0	106.0	120.0					11																	117096678		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117096678G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.829C>T	11.37:g.117096678G>A	ENSP00000325917:p.His277Tyr		OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478		p.H277Y	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	6	1459	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	277			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.829C>T	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768908	0.90020	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	T;T	0.81078	-1.45;1.01	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.048437	0.85682	D	0.000000	D	0.85712	0.5760	L	0.42245	1.32	0.80722	D	1	D	0.54601	0.967	P	0.60949	0.881	D	0.86202	0.1619	10	0.72032	D	0.01	-28.1664	19.1066	0.93299	0.0:0.0:1.0:0.0	.	277	Q16549	PCSK7_HUMAN	Y	277	ENSP00000325917:H277Y;ENSP00000431181:H277Y	ENSP00000325917:H277Y	H	-	1	0	PCSK7	116601888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.928000	0.87587	2.769000	0.95229	0.655000	0.94253	CAC		0.542	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		17	30	0	0	0	1	0	17	30				
CAMTA1	23261	broad.mit.edu	37	1	7700541	7700541	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7700541T>C	ENST00000303635.7	+	7	799	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S198P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATCCTCTGCTCCATCAACAC	0.622			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(592-594)Tcc>Ccc		calmodulin binding transcription activator 1							146.0	119.0	128.0					1																	7700541		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700541T>C	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.592T>C	1.37:g.7700541T>C	ENSP00000306522:p.Ser198Pro					CAMTA1_ENST00000439411.2_Missense_Mutation_p.S198P	p.S198P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	799	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	198					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.592T>C	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783438	0.90282	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.27256	1.68;1.68	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.29908	0.895	0.58432	D	0.999999	P	0.38677	0.642	B	0.41723	0.365	T	0.04255	-1.0965	10	0.66056	D	0.02	-21.0912	15.3622	0.74487	0.0:0.0:0.0:1.0	.	198	Q9Y6Y1	CMTA1_HUMAN	P	198	ENSP00000306522:S198P;ENSP00000402561:S198P	ENSP00000306522:S198P	S	+	1	0	CAMTA1	7623128	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.958000	0.87877	2.028000	0.59812	0.379000	0.24179	TCC		0.622	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		24	29	0	0	0	1	0	24	29				
KCND3	3752	broad.mit.edu	37	1	112329661	112329661	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112329661C>T	ENST00000315987.2	-	3	1653	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	KCND3_ENST00000369697.1_Missense_Mutation_p.V392I|KCND3_ENST00000302127.4_Missense_Mutation_p.V392I	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	392			V -> I (probable disease-associated mutation found in a case of sudden unexplained death syndrome; gain of function). {ECO:0000269|PubMed:22457051}.		cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ATGACCAGGACGCCACTCAAG	0.517																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1174-1176)Gtc>Atc		potassium voltage-gated channel, Shal-related subfamily, member 3							120.0	112.0	115.0					1																	112329661		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112329661C>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1174G>A	1.37:g.112329661C>T	ENSP00000319591:p.Val392Ile					KCND3_ENST00000302127.4_Missense_Mutation_p.V392I|KCND3_ENST00000315987.2_Missense_Mutation_p.V392I	p.V392I			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1243	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	392					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1174G>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814712	0.90790	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.98400	-4.91;-4.91;-4.91	4.84	4.84	0.62591	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68192	0.956;0.956	D	0.99851	1.1071	10	0.87932	D	0	.	17.8944	0.88883	0.0:1.0:0.0:0.0	.	392;392	Q14D71;Q9UK17	.;KCND3_HUMAN	I	392	ENSP00000358711:V392I;ENSP00000319591:V392I;ENSP00000306923:V392I	ENSP00000306923:V392I	V	-	1	0	KCND3	112131184	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.818000	0.86416	2.398000	0.81561	0.561000	0.74099	GTC		0.517	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		13	37	0	0	0	1	0	13	37				
GTF3C5	9328	broad.mit.edu	37	9	135929296	135929296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929296C>T	ENST00000372097.5	+	6	1278	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	GTF3C5_ENST00000372108.5_Missense_Mutation_p.L319F|GTF3C5_ENST00000372099.6_Missense_Mutation_p.L310F|GTF3C5_ENST00000372095.5_Missense_Mutation_p.L194F|GTF3C5_ENST00000342018.8_Missense_Mutation_p.L250F	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	319					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TTATCAAGTCCTCGATTTCCG	0.458																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(955-957)Ctc>Ttc		general transcription factor IIIC, polypeptide 5, 63kDa							83.0	80.0	81.0					9																	135929296		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135929296C>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.955C>T	9.37:g.135929296C>T	ENSP00000361169:p.Leu319Phe					GTF3C5_ENST00000342018.8_Missense_Mutation_p.L250F|GTF3C5_ENST00000372099.6_Missense_Mutation_p.L310F|GTF3C5_ENST00000372108.5_Missense_Mutation_p.L319F|GTF3C5_ENST00000372095.5_Missense_Mutation_p.L194F	p.L319F	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	6	1278	+			319					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.955C>T	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591033	0.86851	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.61859	0.6;0.6;0.59;0.07	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	L	0.61387	1.9	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65701	-0.6104	10	0.13853	T	0.58	-24.9666	18.39	0.90479	0.0:1.0:0.0:0.0	.	194;319;319	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	F	319;310;194;169;319;250;194	ENSP00000361169:L319F;ENSP00000361171:L310F;ENSP00000361180:L319F;ENSP00000339530:L250F	ENSP00000339530:L250F	L	+	1	0	GTF3C5	134919117	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.487000	0.53222	2.578000	0.87016	0.655000	0.94253	CTC		0.458	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		16	23	0	0	0	1	0	16	23				
C10orf10	11067	broad.mit.edu	37	10	45473040	45473040	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45473040C>A	ENST00000298295.3	-	2	656	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.5_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	147						mitochondrion (GO:0005739)				lung(1)	1						CCTCTGGGGGCCCCCATGGGC	0.622																																						ENST00000298295.3																			0				lung(1)	1						c.(439-441)Gcc>Tcc		chromosome 10 open reading frame 10							32.0	36.0	34.0					10																	45473040		2202	4300	6502	SO:0001583	missense	11067					mitochondrion		g.chr10:45473040C>A	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.439G>T	10.37:g.45473040C>A	ENSP00000298295:p.Ala147Ser					RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000334940.6_Intron	p.A147S	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	656	-			147					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.439G>T	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	C	6.301	0.423693	0.11928	.	.	ENSG00000165507	ENST00000298295	T	0.42513	0.97	3.98	-7.97	0.01139	.	2.284240	0.02278	N	0.069143	T	0.20700	0.0498	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.11155	-1.0599	10	0.20046	T	0.44	3.6924	1.8969	0.03259	0.2255:0.1676:0.112:0.4949	.	147	Q9NTK1	DEPP_HUMAN	S	147	ENSP00000298295:A147S	ENSP00000298295:A147S	A	-	1	0	C10orf10	44793046	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.697000	0.00826	-2.001000	0.00964	-0.188000	0.12872	GCC		0.622	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		18	21	1	0	2.35188e-11	1	2.93101e-11	18	21				
SERINC2	347735	broad.mit.edu	37	1	31899543	31899543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31899543C>T	ENST00000373709.3	+	6	803	c.653C>T	c.(652-654)gCg>gTg	p.A218V	SERINC2_ENST00000373710.1_Missense_Mutation_p.A227V|SERINC2_ENST00000536384.1_Missense_Mutation_p.A222V|SERINC2_ENST00000536859.1_Missense_Mutation_p.A222V|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	218					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGTCGATCGCGGCCGTGGCG	0.597																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(679-681)gCg>gTg		serine incorporator 2							203.0	179.0	187.0					1																	31899543		2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31899543C>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.653C>T	1.37:g.31899543C>T	ENSP00000362813:p.Ala218Val					SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.A218V|SERINC2_ENST00000536384.1_Missense_Mutation_p.A222V|SERINC2_ENST00000536859.1_Missense_Mutation_p.A222V	p.A227V	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	7	953	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	218					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.680C>T	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404194	0.01165	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.99	3.13	0.36017	.	0.331422	0.36555	N	0.002533	T	0.08403	0.0209	L	0.31752	0.955	0.09310	N	1	B;B;B	0.21606	0.003;0.007;0.058	B;B;B	0.20955	0.006;0.01;0.032	T	0.38757	-0.9646	10	0.02654	T	1	-17.1451	11.1504	0.48455	0.0:0.8482:0.0:0.1518	.	222;227;218	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	V	227;222;218;222	ENSP00000362814:A227V;ENSP00000444307:A222V;ENSP00000362813:A218V;ENSP00000439048:A222V	ENSP00000362813:A218V	A	+	2	0	SERINC2	31672130	0.000000	0.05858	0.015000	0.15790	0.146000	0.21551	0.251000	0.18257	0.703000	0.31848	0.561000	0.74099	GCG		0.597	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		44	67	0	0	0	1	0	44	67				
NLRC4	58484	broad.mit.edu	37	2	32474692	32474692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32474692C>T	ENST00000404025.2	-	5	2729	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	NLRC4_ENST00000402280.1_Silent_p.Q747Q|NLRC4_ENST00000360906.5_Silent_p.Q747Q|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	747					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCCGTTGATTCTGTAGGTCAT	0.393																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2239-2241)caG>caA		NLR family, CARD domain containing 4							198.0	200.0	199.0					2																	32474692		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474692C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2241G>A	2.37:g.32474692C>T						NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.Q747Q|NLRC4_ENST00000360906.5_Silent_p.Q747Q	p.Q747Q			Q9NPP4	NLRC4_HUMAN			5	2729	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		747					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2241G>A	CCDS33174.1																																																																																				0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		84	138	0	0	0	1	0	84	138				
GPR162	27239	broad.mit.edu	37	12	6933544	6933544	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6933544C>T	ENST00000311268.3	+	2	1267	c.480C>T	c.(478-480)ggC>ggT	p.G160G	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAACAACGGCGAGCGCTACT	0.577																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(478-480)ggC>ggT		G protein-coupled receptor 162							60.0	56.0	58.0					12																	6933544		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933544C>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.480C>T	12.37:g.6933544C>T						GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR	p.G160G	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1267	+			160					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.480C>T	CCDS8563.1																																																																																				0.577	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		11	17	0	0	0	1	0	11	17				
SNHG14	104472715	broad.mit.edu	37	15	25463906	25463906	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25463906G>A	ENST00000424208.1	+	0	2994				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGGGCCACTGTATTTTGGAC	0.552																																						ENST00000424208.1																			0																																																			0							g.chr15:25463906G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463906G>A						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	2994	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.552	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			28	50	0	0	0	1	0	28	50				
TOP1MT	116447	broad.mit.edu	37	8	144400187	144400187	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144400187C>T	ENST00000329245.4	-	9	1250		c.e9+1		TOP1MT_ENST00000523676.1_Splice_Site|TOP1MT_ENST00000519148.1_Splice_Site|TOP1MT_ENST00000521193.1_Splice_Site	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial						DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCGGCTTACGGTCAGCCTG	0.582																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.e10+1		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						71.0	77.0	75.0					8																	144400187		2203	4300	6503	SO:0001630	splice_region_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144400187C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1215+1G>A	8.37:g.144400187C>T						TOP1MT_ENST00000329245.4_Splice_Site|TOP1MT_ENST00000519148.1_Splice_Site|TOP1MT_ENST00000521193.1_Splice_Site				Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		10	1327	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)							B7ZAR5|E7ES89|Q86ST4|Q86V82	Splice_Site	SNP	ENST00000329245.4	37		CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819455	0.32145	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	.	.	.	2.34	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4675	0.32964	0.0:0.8707:0.0:0.1293	.	.	.	.	.	-1	.	.	.	-	.	.	TOP1MT	144471562	1.000000	0.71417	0.037000	0.18230	0.031000	0.12232	3.688000	0.54699	0.261000	0.21753	0.609000	0.83330	.		0.582	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963	Intron	14	25	0	0	0	1	0	14	25				
RASGRF1	5923	broad.mit.edu	37	15	79350824	79350824	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79350824C>T	ENST00000419573.3	-	3	658		c.e3-1		RASGRF1_ENST00000560334.1_Splice_Site|RASGRF1_ENST00000558480.2_Splice_Site	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTCCTGTAGCTGTGGACAGA	0.587																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e3-1		Ras protein-specific guanine nucleotide-releasing factor 1							106.0	89.0	95.0					15																	79350824		2196	4293	6489	SO:0001630	splice_region_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79350824C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.384-1G>A	15.37:g.79350824C>T						RASGRF1_ENST00000560334.1_Splice_Site|RASGRF1_ENST00000558480.2_Splice_Site		NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			3	658	-								F8VPA5|H0YKF2|J3KQP9|Q16027	Splice_Site	SNP	ENST00000419573.3	37		CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786084	0.31593	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6059	0.68478	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRF1	77137879	1.000000	0.71417	0.995000	0.50966	0.149000	0.21700	7.274000	0.78538	2.366000	0.80165	0.542000	0.68232	.		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	Intron	3	37	0	0	0	1	0	3	37				
HOXD1	3231	broad.mit.edu	37	2	177054165	177054165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:177054165G>A	ENST00000331462.4	+	1	859	c.636G>A	c.(634-636)agG>agA	p.R212R	HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000452365.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	212					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AAGTGAAGAGGAATGCCTCTA	0.662																																						ENST00000331462.4																			0				kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10						c.(634-636)agG>agA		homeobox D1							25.0	29.0	28.0					2																	177054165		2148	4193	6341	SO:0001819	synonymous_variant	3231					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177054165G>A		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.636G>A	2.37:g.177054165G>A							p.R212R	NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)	1	859	+			212					B2RAB4	Silent	SNP	ENST00000331462.4	37	c.636G>A	CCDS2271.1																																																																																				0.662	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			4	14	0	0	0	1	0	4	14				
IL17B	27190	broad.mit.edu	37	5	148756437	148756437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148756437C>T	ENST00000261796.3	-	2	223	c.173G>A	c.(172-174)cGc>cAc	p.R58H	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	58					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCCATGCGGGCATACGG	0.617																																						ENST00000261796.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(172-174)cGc>cAc		interleukin 17B							113.0	106.0	108.0					5																	148756437		2203	4300	6503	SO:0001583	missense	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148756437C>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.173G>A	5.37:g.148756437C>T	ENSP00000261796:p.Arg58His					IL17B_ENST00000505432.1_5'UTR	p.R58H	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	223	-			58					Q14CE5	Missense_Mutation	SNP	ENST00000261796.3	37	c.173G>A	CCDS4297.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694743	0.30052	.	.	ENSG00000127743	ENST00000261796	T	0.55588	0.51	5.11	4.12	0.48240	.	0.301487	0.28700	N	0.014433	T	0.37073	0.0990	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	P	0.46299	0.511	T	0.16012	-1.0417	10	0.13853	T	0.58	-3.4736	9.0297	0.36252	0.2457:0.5861:0.1681:0.0	.	58	Q9UHF5	IL17B_HUMAN	H	58	ENSP00000261796:R58H	ENSP00000261796:R58H	R	-	2	0	IL17B	148736630	0.445000	0.25657	0.997000	0.53966	0.329000	0.28539	0.826000	0.27407	2.550000	0.86006	0.462000	0.41574	CGC		0.617	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		43	45	0	0	0	1	0	43	45				
SPTA1	6708	broad.mit.edu	37	1	158655019	158655019	+	Missense_Mutation	SNP	T	T	G	rs121918644		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158655019T>G	ENST00000368147.4	-	2	323	c.143A>C	c.(142-144)aAg>aCg	p.K48T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	48			K -> R (in HPP). {ECO:0000269|PubMed:1878597}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					atcctcaagcttctgaccccT	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	GRCh37	CM910360	SPTA1	M	rs121918644	c.(142-144)aAg>aCg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							116.0	116.0	116.0					1																	158655019		1931	4139	6070	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655019T>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.143A>C	1.37:g.158655019T>G	ENSP00000357129:p.Lys48Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.K48T	p.K48T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	323	-	all_hematologic(112;0.0378)		48		K -> R (in HPP).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.143A>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886972	0.91814	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37058	1.22;1.22	5.18	5.18	0.71444	.	0.000000	0.33650	N	0.004690	T	0.51007	0.1649	M	0.74647	2.275	0.54753	D	0.999987	D	0.65815	0.995	D	0.76575	0.988	T	0.54214	-0.8327	10	0.51188	T	0.08	.	14.0164	0.64527	0.0:0.0:0.0:1.0	.	48	P02549	SPTA1_HUMAN	T	48	ENSP00000357130:K48T;ENSP00000357129:K48T	ENSP00000357129:K48T	K	-	2	0	SPTA1	156921643	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.257000	0.78362	2.180000	0.69256	0.383000	0.25322	AAG		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	73	0	0	0	1	0	4	73				
RSF1	51773	broad.mit.edu	37	11	77383090	77383090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77383090C>A	ENST00000308488.6	-	15	4050	c.3748G>T	c.(3748-3750)Gaa>Taa	p.E1250*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.E998*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.E1219*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1250					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCCTTACCTTCACTCTCTGAG	0.413																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3748-3750)Gaa>Taa		remodeling and spacing factor 1							188.0	182.0	184.0					11																	77383090		2200	4292	6492	SO:0001587	stop_gained	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77383090C>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3748G>T	11.37:g.77383090C>A	ENSP00000311513:p.Glu1250*					RSF1_ENST00000360355.2_Nonsense_Mutation_p.E1219*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E998*	p.E1250*			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		15	4050	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1250					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	c.3748G>T	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	49	15.530509	0.99837	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	.	.	.	5.11	5.11	0.69529	.	0.000000	0.47455	D	0.000238	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.7795	0.52006	0.0:0.9193:0.0:0.0807	.	.	.	.	X	1250;998;1219	.	ENSP00000311513:E1250X	E	-	1	0	RSF1	77060738	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.736000	0.55052	2.674000	0.91012	0.655000	0.94253	GAA		0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		66	97	1	0	8.3131e-28	1	1.11021e-27	66	97				
HLA-DMB	3109	broad.mit.edu	37	6	32906533	32906533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32906533G>A	ENST00000418107.2	-	2	527	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R121C|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.R89C|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	89	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGCGCAAGCGCTGCATCAGG	0.552																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(265-267)Cgc>Tgc		major histocompatibility complex, class II, DM beta							127.0	128.0	128.0					6																	32906533		1510	2709	4219	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906533G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.265C>T	6.37:g.32906533G>A	ENSP00000398890:p.Arg89Cys					XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R121C|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R89C	p.R89C			P28068	DMB_HUMAN			2	459	-			89			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.265C>T	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876786	0.51801	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.22134	1.97;1.97;1.97	5.07	4.2	0.49525	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	1.154770	0.06700	N	0.771306	T	0.35008	0.0917	M	0.75264	2.295	0.49915	D	0.999838	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.982	T	0.05225	-1.0898	9	.	.	.	.	9.0859	0.36581	0.0992:0.0:0.9008:0.0	.	89;89;98	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	C	89;89;89;121	ENSP00000398890:R89C;ENSP00000391010:R89C;ENSP00000412457:R121C	.	R	-	1	0	XXbac-BPG181M17.5;HLA-DMB	33014511	0.919000	0.31177	0.997000	0.53966	0.328000	0.28507	2.973000	0.49264	1.354000	0.45846	0.637000	0.83480	CGC		0.552	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		40	53	0	0	0	1	0	40	53				
SBNO2	22904	broad.mit.edu	37	19	1106423	1106423	+	IGR	SNP	G	G	A	rs201575676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1106423G>A	ENST00000361757.3	-	0	4922				GPX4_ENST00000589115.1_Silent_p.A167A|GPX4_ENST00000354171.8_Missense_Mutation_p.V176M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACGGCTGCGTGGTGAAGCG	0.647																																						ENST00000354171.8																			0				endometrium(1)|kidney(2)	3						c.(526-528)Gtg>Atg		glutathione peroxidase 4	Glutathione(DB00143)	G	HIS/ARG,MET/VAL,MET/VAL	1,4031		0,1,2015	55.0	62.0	60.0		548,637,526	3.3	1.0	19		60	0,8346		0,0,4173	yes	missense,missense,missense	GPX4	NM_001039847.1,NM_001039848.1,NM_002085.3	29,21,21	0,1,6188	AA,AG,GG		0.0,0.0248,0.0081	,,	183/228,213/235,176/198	1106423	1,12377	2016	4173	6189	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1106423G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1106423G>A						GPX4_ENST00000589115.1_Silent_p.A167A	p.V176M	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	633	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	176					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.526G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287031	0.59867	2.48E-4	0.0	ENSG00000167468	ENST00000354171	T	0.05139	3.49	4.35	3.32	0.38043	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	.	.	.	0.80722	D	1	D;D	0.57899	0.974;0.981	P;P	0.54100	0.742;0.678	T	0.00893	-1.1524	9	0.87932	D	0	.	11.3457	0.49559	0.0893:0.0:0.9107:0.0	.	149;176	P36969-2;P36969	.;GPX4_HUMAN	M	176	ENSP00000346103:V176M	ENSP00000346103:V176M	V	+	1	0	GPX4	1057423	1.000000	0.71417	0.987000	0.45799	0.310000	0.27922	8.948000	0.93006	1.053000	0.40415	-0.136000	0.14681	GTG		0.647	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		13	44	0	0	0	1	0	13	44				
MYH11	4629	broad.mit.edu	37	16	15814801	15814801	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814801T>G	ENST00000300036.5	-	33	4795	c.4686A>C	c.(4684-4686)aaA>aaC	p.K1562N	MYH11_ENST00000452625.2_Missense_Mutation_p.K1569N|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.K1562N|MYH11_ENST00000396324.3_Missense_Mutation_p.K1569N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1562					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGCCGCAGTTTGGCGTCCT	0.602			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4684-4686)aaA>aaC		myosin, heavy chain 11, smooth muscle							111.0	102.0	105.0					16																	15814801		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814801T>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4686A>C	16.37:g.15814801T>G	ENSP00000300036:p.Lys1562Asn					MYH11_ENST00000396324.3_Missense_Mutation_p.K1569N|MYH11_ENST00000576790.1_Missense_Mutation_p.K1562N|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.K1569N|MYH11_ENST00000300036.5_Missense_Mutation_p.K1562N|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	p.K1562N	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			33	4792	-			1562					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4686A>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726916	0.69074	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.97	1.95	0.26073	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;D;D;D;D	0.76071	0.986;0.987;0.987;0.987;0.987	D	0.87142	0.2203	10	0.52906	T	0.07	.	5.9632	0.19310	0.0:0.5209:0.0:0.4791	.	1569;1562;1569;1562;1569	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	1562;1562;1569;1569;1569	ENSP00000300036:K1562N;ENSP00000345136:K1562N;ENSP00000379616:K1569N;ENSP00000407821:K1569N	ENSP00000300036:K1562N	K	-	3	2	MYH11	15722302	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.041000	0.30291	0.511000	0.28236	-0.232000	0.12228	AAA		0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		30	72	0	0	0	1	0	30	72				
AP3D1	8943	broad.mit.edu	37	19	2116215	2116215	+	Silent	SNP	C	C	T	rs376936910		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2116215C>T	ENST00000345016.5	-	18	2295	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	AP3D1_ENST00000350812.6_Silent_p.S519S|AP3D1_ENST00000356926.4_Silent_p.S597S|AP3D1_ENST00000355272.6_Silent_p.S688S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	688					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCTGTGGCGATGGCGAGC	0.652																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2062-2064)tcG>tcA		adaptor-related protein complex 3, delta 1 subunit		C	,	1,4185		0,1,2092	98.0	112.0	107.0		1791,2064	-6.6	0.6	19		107	0,8418		0,0,4209	no	coding-synonymous,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	0,1,6301	TT,TC,CC		0.0,0.0239,0.0079	,	597/1113,688/1154	2116215	1,12603	2093	4209	6302	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2116215C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2064G>A	19.37:g.2116215C>T						AP3D1_ENST00000345016.5_Silent_p.S688S|AP3D1_ENST00000356926.4_Silent_p.S597S|AP3D1_ENST00000350812.6_Silent_p.S519S	p.S688S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2270	-		Hepatocellular(1079;0.137)	688					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.2064G>A	CCDS42459.1																																																																																				0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			8	20	0	0	0	1	0	8	20				
DOCK6	57572	broad.mit.edu	37	19	11332616	11332616	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11332616T>C	ENST00000294618.7	-	28	3472	c.3461A>G	c.(3460-3462)gAg>gGg	p.E1154G	DOCK6_ENST00000319867.7_Missense_Mutation_p.E493G	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1154					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACAGTGGCCTCGGCGTAGCG	0.592																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3460-3462)gAg>gGg		dedicator of cytokinesis 6							76.0	84.0	82.0					19																	11332616		2095	4213	6308	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11332616T>C		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3461A>G	19.37:g.11332616T>C	ENSP00000294618:p.Glu1154Gly					DOCK6_ENST00000319867.7_Missense_Mutation_p.E493G	p.E1154G	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			28	3472	-			1154					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.3461A>G	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264529	0.23136	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.24151	2.61;1.87	4.65	3.63	0.41609	.	0.592417	0.17222	N	0.182308	T	0.24661	0.0598	L	0.48642	1.525	0.46499	D	0.999077	B;B	0.17268	0.01;0.021	B;B	0.22601	0.014;0.04	T	0.04481	-1.0948	10	0.66056	D	0.02	-8.8464	10.7459	0.46181	0.0:0.0:0.1603:0.8397	.	493;1154	C9IZV6;Q96HP0	.;DOCK6_HUMAN	G	1154;493	ENSP00000294618:E1154G;ENSP00000321556:E493G	ENSP00000294618:E1154G	E	-	2	0	DOCK6	11193616	1.000000	0.71417	0.011000	0.14972	0.002000	0.02628	3.958000	0.56737	0.813000	0.34350	-0.499000	0.04595	GAG		0.592	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		10	73	0	0	0	1	0	10	73				
LRRC40	55631	broad.mit.edu	37	1	70614326	70614326	+	Missense_Mutation	SNP	C	C	T	rs371034866		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70614326C>T	ENST00000370952.3	-	14	1626	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	516						membrane (GO:0016020)		p.R516H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TGTGAAGATACGATATAGAAC	0.338																																						ENST00000370952.3																			1	Substitution - Missense(1)	p.R516H(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(1546-1548)cGt>cAt		leucine rich repeat containing 40		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	88.0	88.0		1547	-1.6	0.2	1		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC40	NM_017768.4	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	516/603	70614326	2,13004	2203	4300	6503	SO:0001583	missense	55631							g.chr1:70614326C>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1547G>A	1.37:g.70614326C>T	ENSP00000359990:p.Arg516His						p.R516H	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			14	1626	-			516					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.1547G>A	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782920	0.31502	2.27E-4	1.16E-4	ENSG00000066557	ENST00000370952	T	0.52526	0.66	5.73	-1.57	0.08506	.	0.405287	0.28624	N	0.014686	T	0.15219	0.0367	L	0.35542	1.07	0.31625	N	0.649758	B	0.06786	0.001	B	0.04013	0.001	T	0.13469	-1.0508	10	0.36615	T	0.2	.	11.5699	0.50829	0.0:0.6391:0.0:0.3609	.	516	Q9H9A6	LRC40_HUMAN	H	516	ENSP00000359990:R516H	ENSP00000359990:R516H	R	-	2	0	LRRC40	70386914	0.000000	0.05858	0.225000	0.23894	0.954000	0.61252	-0.460000	0.06720	-0.637000	0.05516	0.650000	0.86243	CGT		0.338	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		6	67	0	0	0	1	0	6	67				
HCFC1	3054	broad.mit.edu	37	X	153223328	153223328	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153223328G>T	ENST00000310441.7	-	12	3004	c.2038C>A	c.(2038-2040)Ctg>Atg	p.L680M	HCFC1_ENST00000369984.4_Missense_Mutation_p.L680M|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.L611M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	680	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTGCCCAGATTGGAAATC	0.562																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2038-2040)Ctg>Atg		host cell factor C1 (VP16-accessory protein)							69.0	70.0	70.0					X																	153223328		1983	4141	6124	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153223328G>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2038C>A	X.37:g.153223328G>T	ENSP00000309555:p.Leu680Met					HCFC1_ENST00000369984.4_Missense_Mutation_p.L680M|HCFC1_ENST00000354233.3_Missense_Mutation_p.L611M	p.L680M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			12	3004	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		680			Interaction with SIN3A.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2038C>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611432	0.66558	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03441	3.94;3.93;3.93	5.52	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	L	0.29908	0.895	0.45490	D	0.998453	D	0.76494	0.999	D	0.85130	0.997	T	0.19976	-1.0289	10	0.49607	T	0.09	.	9.177	0.37118	0.1781:0.0:0.8219:0.0	.	680	P51610	HCFC1_HUMAN	M	680;680;611	ENSP00000309555:L680M;ENSP00000359001:L680M;ENSP00000346174:L611M	ENSP00000309555:L680M	L	-	1	2	HCFC1	152876522	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	5.145000	0.64839	1.097000	0.41459	0.600000	0.82982	CTG		0.562	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		24	38	1	0	3.6726e-16	1	4.7309e-16	24	38				
DOT1L	84444	broad.mit.edu	37	19	2226610	2226610	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2226610G>A	ENST00000398665.3	+	27	4126	c.4090G>A	c.(4090-4092)Gcc>Acc	p.A1364T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1364					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTCGGACGCCAACCCTTT	0.706																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4090-4092)Gcc>Acc		DOT1-like histone H3K79 methyltransferase							6.0	9.0	8.0					19																	2226610		1980	4077	6057	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226610G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4090G>A	19.37:g.2226610G>A	ENSP00000381657:p.Ala1364Thr						p.A1364T	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4126	+		Hepatocellular(1079;0.137)	1364					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4090G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436744	0.12104	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.33438	1.85;1.41	4.4	-0.208	0.13185	.	0.436617	0.19355	N	0.116291	T	0.13927	0.0337	N	0.20685	0.6	0.09310	N	1	B;B	0.17667	0.023;0.001	B;B	0.06405	0.002;0.001	T	0.17684	-1.0361	10	0.87932	D	0	-7.2198	0.1304	0.00073	0.2308:0.2203:0.2266:0.3223	.	1364;1364	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	T	1364;1364;244	ENSP00000381657:A1364T;ENSP00000407411:A244T	ENSP00000221482:A1364T	A	+	1	0	DOT1L	2177610	0.025000	0.19082	0.002000	0.10522	0.274000	0.26718	0.284000	0.18864	0.019000	0.15079	0.462000	0.41574	GCC		0.706	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	5	0	0	0	1	0	8	5				
CANX	821	broad.mit.edu	37	5	179143190	179143190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179143190C>A	ENST00000247461.4	+	8	1006	c.806C>A	c.(805-807)cCt>cAt	p.P269H	CANX_ENST00000452673.2_Missense_Mutation_p.P269H|CANX_ENST00000512607.2_Missense_Mutation_p.P161H|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.P269H|CANX_ENST00000415618.2_Missense_Mutation_p.P304H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	269					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ATGACTCCTCCTGTAAATCCT	0.423																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(805-807)cCt>cAt		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						119.0	120.0	120.0					5																	179143190		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179143190C>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.806C>A	5.37:g.179143190C>A	ENSP00000247461:p.Pro269His					CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Missense_Mutation_p.P269H|CANX_ENST00000415618.2_Missense_Mutation_p.P304H|CANX_ENST00000512607.2_Missense_Mutation_p.P161H|CANX_ENST00000504734.1_Missense_Mutation_p.P269H	p.P269H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1006	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	269					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.806C>A	CCDS4447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.975975|4.975975	0.92982|0.92982	.|.	.|.	ENSG00000127022|ENSG00000127022	ENST00000508787|ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000354394;ENST00000376953	.|T;T;T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38;0.38;0.38	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	.|0.352689	.|0.37178	.|N	.|0.002218	T|T	0.80454|0.80454	0.4626|0.4626	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.993;0.997;0.99	.|D;D;D	.|0.69654	.|0.944;0.965;0.91	D|D	0.86610|0.86610	0.1872|0.1872	5|10	.|0.87932	.|D	.|0	-0.8454|-0.8454	18.5779|18.5779	0.91162|0.91162	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|304;205;269	.|B4DGP8;Q6ZP56;P27824	.|.;.;CALX_HUMAN	M|H	186|269;304;269;269;205;161;249;205	.|ENSP00000424063:P269H;ENSP00000394817:P304H;ENSP00000391646:P269H;ENSP00000247461:P269H;ENSP00000421107:P205H;ENSP00000423588:P161H	.|ENSP00000247461:P269H	L|P	+|+	1|2	2|0	CANX|CANX	179075796|179075796	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.374000|2.374000	0.81015|0.81015	0.549000|0.549000	0.68633|0.68633	CTG|CCT		0.423	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		7	99	1	0	0.00307968	1	0.00325696	7	99				
KIF16B	55614	broad.mit.edu	37	20	16486692	16486692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16486692A>G	ENST00000354981.2	-	8	1000	c.843T>C	c.(841-843)acT>acC	p.T281T	KIF16B_ENST00000408042.1_Silent_p.T281T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T281T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	281	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGTTCCCCAGAGTCACGAGGG	0.512																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(841-843)acT>acC		kinesin family member 16B							109.0	101.0	104.0					20																	16486692		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16486692A>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.843T>C	20.37:g.16486692A>G						KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.T281T|KIF16B_ENST00000355755.3_Silent_p.T281T	p.T281T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			8	1000	-			281			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.843T>C	CCDS13122.1																																																																																				0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		4	87	0	0	0	1	0	4	87				
EIF4ENIF1	56478	broad.mit.edu	37	22	31858998	31858998	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31858998G>T	ENST00000397525.1	-	6	930	c.707C>A	c.(706-708)aCt>aAt	p.T236N	EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.T236N|RP11-247I13.11_ENST00000483736.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.T236N|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	236						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCAAAGCCAGTCAGTTCGAT	0.453																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(706-708)aCt>aAt		eukaryotic translation initiation factor 4E nuclear import factor 1							126.0	106.0	113.0					22																	31858998		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31858998G>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.707C>A	22.37:g.31858998G>T	ENSP00000380659:p.Thr236Asn					RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.T236N|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.T236N|RP11-247I13.8_ENST00000439588.1_RNA	p.T236N	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			6	930	-			236					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.707C>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706500	0.68615	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.66	5.66	0.87406	.	0.214103	0.48286	D	0.000191	T	0.67126	0.2860	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.57866	-0.7737	9	0.17832	T	0.49	-15.5183	18.7679	0.91880	0.0:0.0:1.0:0.0	.	236	Q9NRA8	4ET_HUMAN	N	236	.	ENSP00000328103:T236N	T	-	2	0	EIF4ENIF1	30188998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.577000	0.60922	2.857000	0.98124	0.650000	0.86243	ACT		0.453	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		4	53	1	0	2.56e-06	1	2.9446e-06	4	53				
TTN	7273	broad.mit.edu	37	2	179418746	179418746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179418746G>A	ENST00000591111.1	-	283	84393	c.84169C>T	c.(84169-84171)Ctc>Ttc	p.L28057F	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20633F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20758F|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27130F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L29698F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20825F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28057	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGTGAGTCCTGTTACT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89092-89094)Ctc>Ttc		titin							157.0	156.0	156.0					2																	179418746		1901	4120	6021	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418746G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84169C>T	2.37:g.179418746G>A	ENSP00000465570:p.Leu28057Phe					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20633F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27130F|TTN_ENST00000359218.5_Missense_Mutation_p.L20758F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20825F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L28057F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.L29698F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		333	89316	-			28057			Fibronectin type-III 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89092C>T		.	.	.	.	.	.	.	.	.	.	G	19.18	3.777669	0.70107	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.61	4.72	0.59763	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95468	0.8528	H	0.98738	4.315	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96547	0.9405	9	0.87932	D	0	.	14.2784	0.66196	0.0712:0.0:0.9288:0.0	.	20633;20758;20825;28057	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	27130;20633;20825;20758;20630	ENSP00000343764:L27130F;ENSP00000434586:L20633F;ENSP00000340554:L20825F;ENSP00000352154:L20758F	ENSP00000340554:L20825F	L	-	1	0	TTN	179126992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.186000	0.58337	2.793000	0.96121	0.655000	0.94253	CTC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	76	0	0	0	1	0	40	76				
DOCK4	9732	broad.mit.edu	37	7	111382077	111382077	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111382077C>A	ENST00000437633.1	-	44	5018	c.4762G>T	c.(4762-4764)Ggg>Tgg	p.G1588W	DOCK4_ENST00000428084.1_Missense_Mutation_p.G1597W|DOCK4_ENST00000494651.2_Missense_Mutation_p.G471W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1588	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTGTATCCCTAAGCTCGAC	0.448																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4789-4791)Ggg>Tgg		dedicator of cytokinesis 4							87.0	87.0	87.0					7																	111382077		1920	4132	6052	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111382077C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4762G>T	7.37:g.111382077C>A	ENSP00000404179:p.Gly1588Trp					DOCK4_ENST00000437633.1_Missense_Mutation_p.G1588W|DOCK4_ENST00000494651.2_Missense_Mutation_p.G471W	p.G1597W			Q8N1I0	DOCK4_HUMAN			45	5061	-		Acute lymphoblastic leukemia(1;0.0441)	1588			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.4789G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.180942|4.180942	0.78677|0.78677	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.06449|.	4.04;3.3;4.04|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55924|.	0.1951|.	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D|.	0.74674|.	0.984;0.973;0.984;0.984;0.973|.	T|.	0.48875|.	-0.8996|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.3209|19.3209	0.94237|0.94237	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	495;471;1633;1588;1597|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	W|Y	1576;1597;471;1588;1585|1048;1620	ENSP00000410746:G1597W;ENSP00000440944:G471W;ENSP00000404179:G1588W|.	ENSP00000345432:G1585W|.	G|X	-|-	1|3	0|2	DOCK4|DOCK4	111169313|111169313	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.815000|0.815000	0.46073|0.46073	5.838000|5.838000	0.69388|0.69388	2.800000|2.800000	0.96347|0.96347	0.655000|0.655000	0.94253|0.94253	GGG|TAG		0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		5	73	1	0	1.23904e-05	1	1.39987e-05	5	73				
OR4M1	441670	broad.mit.edu	37	14	20249132	20249132	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20249132C>A	ENST00000315957.4	+	1	732	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTAATGTCCTATGCCTTCC	0.488																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(649-651)tcC>tcA		olfactory receptor, family 4, subfamily M, member 1							516.0	420.0	453.0					14																	20249132		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249132C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.651C>A	14.37:g.20249132C>A							p.S217S	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	732	+	all_cancers(95;0.00108)		217					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.651C>A	CCDS32021.1																																																																																				0.488	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			14	246	1	0	1.5842e-08	1	1.90059e-08	14	246				
UBE2D4	51619	broad.mit.edu	37	7	43982631	43982631	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43982631G>T	ENST00000222402.3	+	4	287		c.e4+1		UBE2D4_ENST00000446008.1_Splice_Site|UBE2D4_ENST00000394798.4_Splice_Site|POLR2J4_ENST00000427076.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GCCCCCAAAGGTGAGGTCCCT	0.498																																					Esophageal Squamous(27;401 815 16344 30604)	ENST00000222402.2																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						c.e4+1		ubiquitin-conjugating enzyme E2D 4 (putative)							92.0	84.0	87.0					7																	43982631		2203	4300	6503	SO:0001630	splice_region_variant	51619				protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr7:43982631G>T	BC004104	CCDS5474.1	7p13	2005-08-11			ENSG00000078967	ENSG00000078967		"""Ubiquitin-conjugating enzymes E2"""	21647	protein-coding gene	gene with protein product						12690205	Standard	NM_015983		Approved	HBUCE1	uc003tja.2	Q9Y2X8	OTTHUMG00000128971	ENST00000222402.3:c.198+1G>T	7.37:g.43982631G>T						POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Splice_Site|UBE2D4_ENST00000446008.1_Splice_Site		NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN			4	287	+								A4D1V0	Splice_Site	SNP	ENST00000222402.3	37		CCDS5474.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878661	0.72294	.	.	ENSG00000078967	ENST00000222402;ENST00000446008;ENST00000394798	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5867	0.61935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2D4	43949156	1.000000	0.71417	0.985000	0.45067	0.879000	0.50718	8.141000	0.89618	1.768000	0.52137	0.655000	0.94253	.		0.498	UBE2D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250958.2	NM_015983	Intron	54	51	1	0	6.60958e-23	1	8.73533e-23	54	51				
RER1	11079	broad.mit.edu	37	1	2328570	2328570	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2328570C>T	ENST00000605895.1	+	3	230	c.97C>T	c.(97-99)Cta>Tta	p.L33L	RER1_ENST00000378518.1_Silent_p.L33L|RER1_ENST00000378512.1_Silent_p.L33L|RER1_ENST00000378513.3_Silent_p.L33L|RER1_ENST00000488353.1_Silent_p.L33L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	33					positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCAGTCCTGGCTAGACAAGTC	0.502																																						ENST00000605895.1																			0				endometrium(3)|kidney(1)	4						c.(97-99)Cta>Tta		retention in endoplasmic reticulum sorting receptor 1							148.0	149.0	149.0					1																	2328570		2006	4171	6177	SO:0001819	synonymous_variant	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2328570C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.97C>T	1.37:g.2328570C>T						RER1_ENST00000378513.3_Silent_p.L33L|RER1_ENST00000488353.1_Silent_p.L33L|RER1_ENST00000378518.1_Silent_p.L33L|RER1_ENST00000378512.1_Silent_p.L33L	p.L33L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	3	230	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	33					O95322	Silent	SNP	ENST00000605895.1	37	c.97C>T	CCDS41232.1																																																																																				0.502	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			24	52	0	0	0	1	0	24	52				
HGFAC	3083	broad.mit.edu	37	4	3443842	3443842	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3443842C>T	ENST00000382774.3	+	1	229	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HGFAC_ENST00000511533.1_Silent_p.G38G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	38					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCAGCCTGGCGGGGTGAGCA	0.711																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(112-114)ggC>ggT		HGF activator							18.0	22.0	21.0					4																	3443842		1845	3715	5560	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443842C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.114C>T	4.37:g.3443842C>T						HGFAC_ENST00000511533.1_Silent_p.G38G	p.G38G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	229	+			38					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.114C>T	CCDS3369.1																																																																																				0.711	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			9	16	0	0	0	1	0	9	16				
GALNT2	2590	broad.mit.edu	37	1	230372444	230372444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230372444C>T	ENST00000366672.4	+	6	652	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GALNT2_ENST00000543760.1_Nonsense_Mutation_p.R156*|GALNT2_ENST00000541865.1_Nonsense_Mutation_p.R104*	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	194	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGAAAGTGCGAGTTCTTAG	0.403																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(580-582)Cga>Tga		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							106.0	107.0	107.0					1																	230372444		2203	4300	6503	SO:0001587	stop_gained	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230372444C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.580C>T	1.37:g.230372444C>T	ENSP00000355632:p.Arg194*					GALNT2_ENST00000541865.1_Nonsense_Mutation_p.R104*|GALNT2_ENST00000543760.1_Nonsense_Mutation_p.R156*	p.R194*	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			6	652	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	194			Catalytic subdomain A.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Nonsense_Mutation	SNP	ENST00000366672.4	37	c.580C>T	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	38	7.162471	0.98107	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291;ENST00000541865	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	17.7155	0.88335	0.0:1.0:0.0:0.0	.	.	.	.	X	156;194;75;104	.	ENSP00000355632:R194X	R	+	1	2	GALNT2	228439067	0.888000	0.30383	0.862000	0.33874	0.923000	0.55619	1.645000	0.37238	2.466000	0.83321	0.561000	0.74099	CGA		0.403	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		11	116	0	0	0	1	0	11	116				
ALS2	57679	broad.mit.edu	37	2	202622249	202622249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202622249G>A	ENST00000264276.6	-	5	1719	c.1347C>T	c.(1345-1347)agC>agT	p.S449S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	449					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTTCTTCCCTGCTATCTTTCA	0.438																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(1345-1347)agC>agT		amyotrophic lateral sclerosis 2 (juvenile)							236.0	217.0	223.0					2																	202622249		1879	4111	5990	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202622249G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1347C>T	2.37:g.202622249G>A							p.S449S	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			5	1719	-			449					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.1347C>T	CCDS42800.1																																																																																				0.438	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		39	85	0	0	0	1	0	39	85				
ZSCAN20	7579	broad.mit.edu	37	1	33960239	33960239	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960239C>A	ENST00000361328.3	+	8	2448	c.2295C>A	c.(2293-2295)ccC>ccA	p.P765P		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	765					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAGAAGCCCTATAAATGCC	0.433																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2293-2295)ccC>ccA		zinc finger and SCAN domain containing 20							78.0	87.0	84.0					1																	33960239		2150	4272	6422	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960239C>A	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2295C>A	1.37:g.33960239C>A							p.P765P	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2448	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	765					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.2295C>A	CCDS41300.1																																																																																				0.433	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		32	65	1	0	2.48696e-23	1	3.29125e-23	32	65				
GRPR	2925	broad.mit.edu	37	X	16170513	16170513	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16170513C>T	ENST00000380289.2	+	3	1298	c.900C>T	c.(898-900)caC>caT	p.H300H	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	300					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCATGCTCCACTTTGTCACCA	0.557																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(898-900)caC>caT		gastrin-releasing peptide receptor							176.0	146.0	156.0					X																	16170513		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170513C>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.900C>T	X.37:g.16170513C>T							p.H300H	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			3	1298	+	Hepatocellular(33;0.183)		300					B2R910	Silent	SNP	ENST00000380289.2	37	c.900C>T	CCDS14174.1																																																																																				0.557	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		53	87	0	0	0	1	0	53	87				
TCHH	7062	broad.mit.edu	37	1	152082671	152082671	+	Missense_Mutation	SNP	G	G	A	rs371247136		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082671G>A	ENST00000368804.1	-	2	3021	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1008	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcttctcccgttcctctctc	0.577																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3022-3024)Cgg>Tgg		trichohyalin		G	TRP/ARG	2,3916		0,2,1957	99.0	101.0	101.0		3022	0.8	0.0	1		101	0,8278		0,0,4139	no	missense	TCHH	NM_007113.2	101	0,2,6096	AA,AG,GG		0.0,0.051,0.0164	probably-damaging	1008/1944	152082671	2,12194	1959	4139	6098	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082671G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3022C>T	1.37:g.152082671G>A	ENSP00000357794:p.Arg1008Trp						p.R1008W	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3021	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1008			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3022C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	5.427	0.263851	0.10294	5.1E-4	0.0	ENSG00000159450	ENST00000368804	T	0.05855	3.38	1.84	0.797	0.18654	.	.	.	.	.	T	0.01835	0.0058	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	P	0.45506	0.483	T	0.46105	-0.9215	9	0.66056	D	0.02	.	3.2923	0.06953	0.1913:0.2749:0.5338:0.0	.	1008	Q07283	TRHY_HUMAN	W	1008	ENSP00000357794:R1008W	ENSP00000357794:R1008W	R	-	1	2	TCHH	150349295	0.002000	0.14202	0.001000	0.08648	0.118000	0.20060	0.854000	0.27791	0.816000	0.34421	0.462000	0.41574	CGG		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		38	58	0	0	0	1	0	38	58				
LMF1	64788	broad.mit.edu	37	16	921309	921309	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:921309G>A	ENST00000262301.11	-	7	948	c.930C>T	c.(928-930)ttC>ttT	p.F310F	LMF1_ENST00000543238.1_Silent_p.F73F|LMF1_ENST00000399843.2_Silent_p.F310F|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Silent_p.F93F	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	310					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCAGTTCAGGAAGCTGAGGT	0.652																																						ENST00000262301.11																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18						c.(928-930)ttC>ttT		lipase maturation factor 1							29.0	33.0	32.0					16																	921309		2027	4184	6211	SO:0001819	synonymous_variant	64788					endoplasmic reticulum membrane|integral to membrane		g.chr16:921309G>A	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.930C>T	16.37:g.921309G>A						LMF1_ENST00000399843.2_Silent_p.F310F|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Silent_p.F93F|LMF1_ENST00000543238.1_Silent_p.F73F	p.F310F	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN			7	948	-		Hepatocellular(780;0.00308)	310					Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	ENST00000262301.11	37	c.930C>T	CCDS45373.1																																																																																				0.652	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		3	14	0	0	0	1	0	3	14				
PTPRZ1	5803	broad.mit.edu	37	7	121650826	121650826	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650826A>G	ENST00000393386.2	+	12	2137	c.1726A>G	c.(1726-1728)Agt>Ggt	p.S576G	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S576G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	576					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTATTGACCAGTTTCAAGCT	0.403																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1726-1728)Agt>Ggt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							43.0	43.0	43.0					7																	121650826		2203	4299	6502	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650826A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1726A>G	7.37:g.121650826A>G	ENSP00000377047:p.Ser576Gly					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S576G	p.S576G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2137	+			576					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1726A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	5.546	0.285618	0.10513	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.45276	0.93;0.9	5.7	1.56	0.23342	.	1.178280	0.05831	N	0.617633	T	0.25938	0.0632	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22591	-1.0212	10	0.29301	T	0.29	.	6.492	0.22121	0.4972:0.1359:0.3669:0.0	.	576;576;576	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	G	576	ENSP00000377047:S576G;ENSP00000410000:S576G	ENSP00000377047:S576G	S	+	1	0	PTPRZ1	121438062	0.000000	0.05858	0.033000	0.17914	0.805000	0.45488	0.310000	0.19356	0.015000	0.14971	0.533000	0.62120	AGT		0.403	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		3	61	0	0	0	1	0	3	61				
CNOT1	23019	broad.mit.edu	37	16	58575424	58575424	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58575424A>C	ENST00000317147.5	-	34	5113	c.4781T>G	c.(4780-4782)tTt>tGt	p.F1594C	CNOT1_ENST00000245138.4_Missense_Mutation_p.F445C|CNOT1_ENST00000569240.1_Missense_Mutation_p.F1589C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1594	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGGGCTAAAAATCCCGTGGG	0.383																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(4780-4782)tTt>tGt		CCR4-NOT transcription complex, subunit 1							99.0	98.0	98.0					16																	58575424		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58575424A>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4781T>G	16.37:g.58575424A>C	ENSP00000320949:p.Phe1594Cys					CNOT1_ENST00000569240.1_Missense_Mutation_p.F1589C|CNOT1_ENST00000245138.4_Missense_Mutation_p.F445C	p.F1594C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	34	5113	-			1594					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.4781T>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422668	0.83559	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.48201	0.82	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	P;P;D	0.65573	0.784;0.864;0.936	T	0.70487	-0.4858	10	0.48119	T	0.1	-13.7684	16.0239	0.80528	1.0:0.0:0.0:0.0	.	445;1594;1589	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	1594;445;1589	ENSP00000320949:F1594C	ENSP00000245138:F445C	F	-	2	0	CNOT1	57132925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.179000	0.69175	0.533000	0.62120	TTT		0.383	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		15	116	0	0	0	1	0	15	116				
BRAT1	221927	broad.mit.edu	37	7	2594056	2594056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2594056C>A	ENST00000340611.4	-	2	266	c.10G>T	c.(10-12)Gaa>Taa	p.E4*		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	4					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGGGCGCATTCTGGGTCCATG	0.597																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(10-12)Gaa>Taa		BRCA1-associated ATM activator 1							39.0	40.0	40.0					7																	2594056		2203	4300	6503	SO:0001587	stop_gained	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2594056C>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.10G>T	7.37:g.2594056C>A	ENSP00000339637:p.Glu4*						p.E4*	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			2	266	-			4					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Nonsense_Mutation	SNP	ENST00000340611.4	37	c.10G>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365556	0.95900	.	.	ENSG00000106009	ENST00000340611	.	.	.	4.54	4.54	0.55810	.	0.170552	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.5298	12.2409	0.54541	0.0:0.8284:0.1716:0.0	.	.	.	.	X	4	.	ENSP00000339637:E4X	E	-	1	0	BRAT1	2560582	0.994000	0.37717	0.613000	0.29037	0.013000	0.08279	3.511000	0.53400	2.225000	0.72522	0.563000	0.77884	GAA		0.597	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		4	52	1	0	0.150653	1	0.152692	4	52				
TAS2R13	50838	broad.mit.edu	37	12	11061323	11061323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11061323G>T	ENST00000390677.2	-	1	838	c.575C>A	c.(574-576)aCt>aAt	p.T192N	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	192					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAGGCCACAGTAAATGGTGT	0.388																																						ENST00000390677.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(574-576)aCt>aAt		taste receptor, type 2, member 13							92.0	94.0	94.0					12																	11061323		2203	4300	6503	SO:0001583	missense	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061323G>T	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.575C>A	12.37:g.11061323G>T	ENSP00000375095:p.Thr192Asn					PRR4_ENST00000536668.1_Intron	p.T192N	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN			1	838	-			192					Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	c.575C>A	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682533	0.47991	.	.	ENSG00000212128	ENST00000390677	T	0.38240	1.15	3.21	-0.0037	0.14025	.	0.654660	0.13499	U	0.383433	T	0.58637	0.2136	M	0.90759	3.145	0.09310	N	1	D	0.54964	0.969	D	0.67103	0.949	T	0.48163	-0.9059	10	0.87932	D	0	.	5.1227	0.14869	0.1282:0.4177:0.4541:0.0	.	192	Q9NYV9	T2R13_HUMAN	N	192	ENSP00000375095:T192N	ENSP00000375095:T192N	T	-	2	0	TAS2R13	10952590	0.000000	0.05858	0.045000	0.18777	0.378000	0.30076	0.497000	0.22514	-0.138000	0.11434	0.591000	0.81541	ACT		0.388	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			14	81	1	0	0.000151284	1	0.000166931	14	81				
AKAP9	10142	broad.mit.edu	37	7	91671467	91671467	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91671467T>G	ENST00000359028.2	+	20	5286	c.5061T>G	c.(5059-5061)tgT>tgG	p.C1687W	AKAP9_ENST00000358100.2_Missense_Mutation_p.C1687W|AKAP9_ENST00000356239.3_Missense_Mutation_p.C1675W			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1687					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGCTGTGTTGTGAGCTGC	0.463			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5059-5061)tgT>tgG		A kinase (PRKA) anchor protein 9							108.0	104.0	105.0					7																	91671467		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671467T>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5061T>G	7.37:g.91671467T>G	ENSP00000351922:p.Cys1687Trp					AKAP9_ENST00000358100.2_Missense_Mutation_p.C1687W|AKAP9_ENST00000356239.3_Missense_Mutation_p.C1675W	p.C1687W			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5286	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1687					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5061T>G		.	.	.	.	.	.	.	.	.	.	T	12.12	1.842202	0.32513	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03358	3.96;3.97;3.96	5.18	2.74	0.32292	.	0.000000	0.45361	D	0.000371	T	0.12902	0.0313	M	0.69823	2.125	0.45172	D	0.998184	D;D;D	0.89917	0.993;1.0;0.996	P;D;P	0.77004	0.628;0.989;0.794	T	0.00783	-1.1568	10	0.49607	T	0.09	.	7.471	0.27349	0.0:0.2872:0.0:0.7128	.	1687;1675;1675	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	W	1675;1687;1687;1687	ENSP00000348573:C1675W;ENSP00000351922:C1687W;ENSP00000350813:C1687W	ENSP00000348573:C1675W	C	+	3	2	AKAP9	91509403	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.907000	0.28531	0.888000	0.36160	0.533000	0.62120	TGT		0.463	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		4	69	0	0	0	1	0	4	69				
SAMD9L	219285	broad.mit.edu	37	7	92761672	92761672	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761672G>T	ENST00000318238.4	-	5	4829	c.3613C>A	c.(3613-3615)Ctt>Att	p.L1205I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1205I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1205I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1205					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTGTAAAGACCAACTTCT	0.373																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3613-3615)Ctt>Att		sterile alpha motif domain containing 9-like							130.0	125.0	126.0					7																	92761672		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761672G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3613C>A	7.37:g.92761672G>T	ENSP00000326247:p.Leu1205Ile					SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1205I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1205I	p.L1205I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4829	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1205					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3613C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731916	0.30684	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25085	1.82;1.82;1.82	4.58	3.69	0.42338	.	0.099373	0.41500	D	0.000872	T	0.29882	0.0747	M	0.63843	1.955	0.24311	N	0.995082	P	0.47841	0.901	B	0.44044	0.439	T	0.14172	-1.0482	10	0.45353	T	0.12	-10.6883	12.6562	0.56788	0.0818:0.0:0.9182:0.0	.	1205	Q8IVG5	SAM9L_HUMAN	I	1205	ENSP00000326247:L1205I;ENSP00000405760:L1205I;ENSP00000408796:L1205I	ENSP00000326247:L1205I	L	-	1	0	SAMD9L	92599608	0.627000	0.27129	1.000000	0.80357	0.462000	0.32619	1.163000	0.31798	1.283000	0.44513	-0.373000	0.07131	CTT		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		55	184	1	0	1.63038e-21	1	2.14664e-21	55	184				
MYF6	4618	broad.mit.edu	37	12	81101660	81101660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81101660C>T	ENST00000228641.3	+	1	384	c.162C>T	c.(160-162)agC>agT	p.S54S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	54					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAGCGGGGAGCGACAGCAGCG	0.622																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(160-162)agC>agT		myogenic factor 6 (herculin)							52.0	58.0	56.0					12																	81101660		2203	4300	6503	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101660C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.162C>T	12.37:g.81101660C>T							p.S54S	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	384	+			54					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.162C>T	CCDS9019.1																																																																																				0.622	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		22	31	0	0	0	1	0	22	31				
NHS	4810	broad.mit.edu	37	X	17745136	17745136	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17745136G>A	ENST00000380060.3	+	6	3185	c.2847G>A	c.(2845-2847)acG>acA	p.T949T	NHS_ENST00000398097.3_Silent_p.T793T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	970					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCTACGGGTACCACAG	0.438																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(2845-2847)acG>acA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							95.0	92.0	93.0					X																	17745136		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17745136G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2847G>A	X.37:g.17745136G>A						NHS_ENST00000398097.3_Silent_p.T793T	p.T949T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	3185	+	Hepatocellular(33;0.183)		949					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.2847G>A	CCDS14181.1																																																																																				0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		41	71	0	0	0	1	0	41	71				
SCLT1	132320	broad.mit.edu	37	4	129864213	129864213	+	Missense_Mutation	SNP	G	G	A	rs367930155		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:129864213G>A	ENST00000281142.5	-	17	2073	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	524					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTCTCTTTCCGTAACTGTTTA	0.363																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1570-1572)Cgg>Tgg		sodium channel and clathrin linker 1		G	TRP/ARG	0,4406		0,0,2203	124.0	126.0	125.0		1570	5.3	1.0	4		125	1,8597	1.2+/-3.3	0,1,4298	no	missense	SCLT1	NM_144643.2	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	524/689	129864213	1,13003	2203	4299	6502	SO:0001583	missense	132320					centrosome		g.chr4:129864213G>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1570C>T	4.37:g.129864213G>A	ENSP00000281142:p.Arg524Trp					SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	p.R524W	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2073	-			524					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1570C>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075948	0.76415	0.0	1.16E-4	ENSG00000151466	ENST00000281142	T	0.10860	2.83	5.31	5.31	0.75309	.	0.343069	0.33916	N	0.004438	T	0.09598	0.0236	N	0.19112	0.55	0.80722	D	1	D	0.60160	0.987	B	0.42882	0.401	T	0.27872	-1.0061	9	.	.	.	-0.2026	18.6001	0.91246	0.0:0.0:1.0:0.0	.	524	Q96NL6	SCLT1_HUMAN	W	524	ENSP00000281142:R524W	.	R	-	1	2	SCLT1	130083663	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.245000	0.78237	2.499000	0.84300	0.460000	0.39030	CGG		0.363	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		4	105	0	0	0	1	0	4	105				
MOGS	7841	broad.mit.edu	37	2	74689915	74689915	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689915A>G	ENST00000233616.4	-	4	1163	c.1001T>C	c.(1000-1002)tTt>tCt	p.F334S	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.F228S|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	334					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTCAAACACAAACTCTATGGA	0.562																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1000-1002)tTt>tCt		mannosyl-oligosaccharide glucosidase							114.0	120.0	118.0					2																	74689915		1962	4154	6116	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689915A>G	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1001T>C	2.37:g.74689915A>G	ENSP00000233616:p.Phe334Ser					MOGS_ENST00000452063.2_Missense_Mutation_p.F228S|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR	p.F334S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1163	-			334					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1001T>C	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601600	0.46423	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.37752	1.18;1.18;1.18	4.73	4.73	0.59995	.	0.238980	0.33235	N	0.005123	T	0.33673	0.0871	L	0.39898	1.24	0.80722	D	1	B	0.30937	0.301	B	0.35727	0.209	T	0.28106	-1.0054	10	0.87932	D	0	-0.5608	12.2377	0.54524	1.0:0.0:0.0:0.0	.	334	Q13724	MOGS_HUMAN	S	334;228;228	ENSP00000233616:F334S;ENSP00000388201:F228S;ENSP00000410992:F228S	ENSP00000233616:F334S	F	-	2	0	MOGS	74543423	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	8.193000	0.89719	1.990000	0.58119	0.533000	0.62120	TTT		0.562	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		12	138	0	0	0	1	0	12	138				
KIF6	221458	broad.mit.edu	37	6	39554052	39554052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39554052C>A	ENST00000287152.7	-	8	1069	c.975G>T	c.(973-975)gaG>gaT	p.E325D	KIF6_ENST00000373216.3_Missense_Mutation_p.E325D|KIF6_ENST00000538893.1_Missense_Mutation_p.E325D|KIF6_ENST00000373215.3_Missense_Mutation_p.E325D|KIF6_ENST00000373213.4_Missense_Mutation_p.E164D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	325	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTCCTTTTCTCCAAGGAGA	0.448																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(973-975)gaG>gaT		kinesin family member 6							184.0	169.0	174.0					6																	39554052		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39554052C>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.975G>T	6.37:g.39554052C>A	ENSP00000287152:p.Glu325Asp					KIF6_ENST00000373215.3_Missense_Mutation_p.E325D|KIF6_ENST00000373213.4_Missense_Mutation_p.E164D|KIF6_ENST00000373216.3_Missense_Mutation_p.E325D|KIF6_ENST00000538893.1_Missense_Mutation_p.E325D	p.E325D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			8	1069	-			325					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.975G>T	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.717|8.717	0.913541|0.913541	0.17907|0.17907	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211|ENST00000458470	T;T;T;T;T;T|.	0.75050|.	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9|.	5.77|5.77	4.79|4.79	0.61399|0.61399	Kinesin, motor domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.29945|0.29945	0.0749|0.0749	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;B;B;P|.	0.35628|.	0.067;0.044;0.044;0.513|.	B;B;B;B|.	0.35510|.	0.084;0.045;0.045;0.204|.	T|T	0.19257|0.19257	-1.0311|-1.0311	9|5	0.27082|.	T|.	0.32|.	.|.	4.8616|4.8616	0.13587|0.13587	0.0:0.4388:0.4123:0.1489|0.0:0.4388:0.4123:0.1489	.|.	325;325;325;325|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	D|I	325;325;164;325;325;112;116|217	ENSP00000287152:E325D;ENSP00000362312:E325D;ENSP00000362309:E164D;ENSP00000362311:E325D;ENSP00000441435:E325D;ENSP00000404856:E112D|.	ENSP00000287152:E325D|.	E|R	-|-	3|2	2|0	KIF6|KIF6	39662030|39662030	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.266000|0.266000	0.26442|0.26442	0.433000|0.433000	0.21477|0.21477	2.733000|2.733000	0.93635|0.93635	0.585000|0.585000	0.79938|0.79938	GAG|AGA		0.448	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		5	118	1	0	0.0215528	1	0.0221649	5	118				
CCNL2	81669	broad.mit.edu	37	1	1323366	1323366	+	Silent	SNP	G	G	T	rs148355846		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1323366G>T	ENST00000400809.3	-	9	1091	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.A140A	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	362					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGCTTTCTTGGCGCCCTCCA	0.577																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(1084-1086)gcC>gcA		cyclin L2		G		0,4406		0,0,2203	91.0	92.0	92.0		1086	-5.8	0.0	1	dbSNP_134	92	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CCNL2	NM_030937.4		0,1,6498	TT,TG,GG		0.0116,0.0,0.0077		362/521	1323366	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1323366G>T	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1086C>A	1.37:g.1323366G>T						CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.A140A	p.A362A	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	9	1091	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	362					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.1086C>A	CCDS30557.1																																																																																				0.577	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		11	90	1	0	2.80697e-09	1	3.39963e-09	11	90				
KIF1C	10749	broad.mit.edu	37	17	4907888	4907888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4907888G>A	ENST00000320785.5	+	12	1324	c.967G>A	c.(967-969)Gca>Aca	p.A323T		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	323	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCCATGATTGCAGCCCTGAG	0.577																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(967-969)Gca>Aca		kinesin family member 1C							131.0	121.0	124.0					17																	4907888		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4907888G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.967G>A	17.37:g.4907888G>A	ENSP00000320821:p.Ala323Thr						p.A323T	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			12	1324	+			323					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.967G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335008	0.95758	.	.	ENSG00000129250	ENST00000320785	T	0.76968	-1.06	4.65	4.65	0.58169	Kinesin, motor domain (3);	.	.	.	.	D	0.89681	0.6785	M	0.89968	3.075	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.91636	0.5323	9	0.87932	D	0	.	15.4327	0.75116	0.0:0.0:1.0:0.0	.	323	O43896	KIF1C_HUMAN	T	323	ENSP00000320821:A323T	ENSP00000320821:A323T	A	+	1	0	KIF1C	4848612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.611000	0.98342	2.596000	0.87737	0.467000	0.42956	GCA		0.577	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			32	65	0	0	0	1	0	32	65				
PNMA2	10687	broad.mit.edu	37	8	26366088	26366088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26366088C>T	ENST00000522362.2	-	3	1078	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(184-186)Gcc>Acc		paraneoplastic Ma antigen 2							77.0	76.0	76.0					8																	26366088		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26366088C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.184G>A	8.37:g.26366088C>T	ENSP00000429344:p.Ala62Thr						p.A62T	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1078	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	62					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.184G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531704	0.27387	.	.	ENSG00000240694	ENST00000522362	T	0.11169	2.8	3.77	0.402	0.16344	.	.	.	.	.	T	0.07052	0.0179	N	0.25992	0.78	0.23930	N	0.996436	B	0.09022	0.002	B	0.08055	0.003	T	0.35968	-0.9767	9	0.41790	T	0.15	-21.7407	5.5482	0.17076	0.0:0.5143:0.0:0.4857	.	62	Q9UL42	PNMA2_HUMAN	T	62	ENSP00000429344:A62T	ENSP00000429344:A62T	A	-	1	0	PNMA2	26422005	0.197000	0.23362	0.983000	0.44433	0.842000	0.47809	-0.271000	0.08572	0.056000	0.16144	-0.244000	0.11960	GCC		0.502	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		10	61	0	0	0	1	0	10	61				
SLC10A2	6555	broad.mit.edu	37	13	103718407	103718407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103718407G>A	ENST00000245312.3	-	1	789	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	65					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	ATGCCCCACGGCCGCTTTATG	0.532																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(193-195)Ccg>Tcg		solute carrier family 10 (sodium/bile acid cotransporter), member 2							143.0	141.0	141.0					13																	103718407		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718407G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.193C>T	13.37:g.103718407G>A	ENSP00000245312:p.Pro65Ser						p.P65S	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			1	789	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		65					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.193C>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713906	0.89112	.	.	ENSG00000125255	ENST00000245312	T	0.14893	2.47	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77675	-0.2499	10	0.87932	D	0	0.3804	19.1895	0.93658	0.0:0.0:1.0:0.0	.	65	Q12908	NTCP2_HUMAN	S	65	ENSP00000245312:P65S	ENSP00000245312:P65S	P	-	1	0	SLC10A2	102516408	1.000000	0.71417	0.892000	0.35008	0.840000	0.47671	9.843000	0.99491	2.528000	0.85240	0.655000	0.94253	CCG		0.532	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			34	56	0	0	0	1	0	34	56				
TRIM41	90933	broad.mit.edu	37	5	180660724	180660724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180660724G>A	ENST00000315073.5	+	5	1962	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	TRIM41_ENST00000351937.5_Missense_Mutation_p.V418M|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	418	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCCATCGTGAGGAAAAT	0.587																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1252-1254)Gtg>Atg		tripartite motif containing 41							94.0	89.0	90.0					5																	180660724		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180660724G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1252G>A	5.37:g.180660724G>A	ENSP00000320869:p.Val418Met					TRIM41_ENST00000351937.5_Missense_Mutation_p.V418M|TRIM41_ENST00000510072.1_3'UTR	p.V418M	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1962	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	418			B30.2/SPRY.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.1252G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462347	0.26248	.	.	ENSG00000146063	ENST00000515499;ENST00000351937;ENST00000315073;ENST00000438174	T;T;T	0.54866	3.27;1.02;0.55	5.22	4.29	0.51040	B30.2/SPRY domain (1);	0.130823	0.34603	N	0.003822	T	0.46964	0.1420	N	0.08118	0	0.30340	N	0.785832	P;D	0.76494	0.513;0.999	B;D	0.65323	0.03;0.934	T	0.43196	-0.9406	10	0.30078	T	0.28	.	10.9285	0.47205	0.0:0.1898:0.8102:0.0	.	418;418	Q8WV44;Q8WV44-2	TRI41_HUMAN;.	M	128;418;418;103	ENSP00000426803:V128M;ENSP00000336749:V418M;ENSP00000320869:V418M	ENSP00000320869:V418M	V	+	1	0	TRIM41	180593330	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.768000	0.55295	2.427000	0.82271	0.655000	0.94253	GTG		0.587	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		27	36	0	0	0	1	0	27	36				
KCNJ3	3760	broad.mit.edu	37	2	155711428	155711428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155711428C>A	ENST00000295101.2	+	3	1586	c.1109C>A	c.(1108-1110)cCt>cAt	p.P370H	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	370					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATGTCGTCCCCTTTAATAGCA	0.408																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1108-1110)cCt>cAt		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						98.0	103.0	101.0					2																	155711428		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711428C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1109C>A	2.37:g.155711428C>A	ENSP00000295101:p.Pro370His					KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	p.P370H	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1586	+			370					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1109C>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942456	0.73672	.	.	ENSG00000162989	ENST00000295101	D	0.91011	-2.77	5.7	5.7	0.88788	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	L	0.38175	1.15	0.80722	D	1	D	0.59767	0.986	P	0.54815	0.761	D	0.87578	0.2482	10	0.18710	T	0.47	.	18.8359	0.92162	0.0:1.0:0.0:0.0	.	370	P48549	IRK3_HUMAN	H	370	ENSP00000295101:P370H	ENSP00000295101:P370H	P	+	2	0	KCNJ3	155419674	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.704000	0.92352	0.650000	0.86243	CCT		0.408	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		9	122	1	0	3.09899e-07	1	3.63227e-07	9	122				
SYNPO2L	79933	broad.mit.edu	37	10	75408082	75408082	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75408082G>T	ENST00000394810.2	-	4	1477	c.1328C>A	c.(1327-1329)cCt>cAt	p.P443H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P219H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	443	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCTACAGGCGCCGGCAA	0.672																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1327-1329)cCt>cAt		synaptopodin 2-like							13.0	16.0	15.0					10																	75408082		2198	4287	6485	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75408082G>T	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1328C>A	10.37:g.75408082G>T	ENSP00000378289:p.Pro443His					SYNPO2L_ENST00000372872.4_Missense_Mutation_p.P443H|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P219H	p.P443H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	1477	-	Prostate(51;0.0112)		443			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1328C>A	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	8.534	0.871726	0.17322	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.25250	1.81;1.91;2.17	4.43	3.44	0.39384	.	0.215507	0.39834	N	0.001260	T	0.24547	0.0595	L	0.52573	1.65	0.09310	N	1	P;P	0.51791	0.948;0.786	B;P	0.46339	0.41;0.513	T	0.08973	-1.0696	10	0.17369	T	0.5	-4.4876	9.4559	0.38753	0.1114:0.0:0.8886:0.0	.	443;219	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	219;443;443	ENSP00000361964:P219H;ENSP00000361963:P443H;ENSP00000378289:P443H	ENSP00000361963:P443H	P	-	2	0	SYNPO2L	75078088	0.790000	0.28787	0.039000	0.18376	0.739000	0.42172	1.206000	0.32321	0.983000	0.38602	0.491000	0.48974	CCT		0.672	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		8	13	1	0	0.00448238	1	0.00472561	8	13				
FBLN2	2199	broad.mit.edu	37	3	13679300	13679300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13679300C>T	ENST00000295760.7	+	17	3505	c.3436C>T	c.(3436-3438)Cgg>Tgg	p.R1146W	FBLN2_ENST00000404922.3_Missense_Mutation_p.R1193W|FBLN2_ENST00000492059.1_Missense_Mutation_p.R1193W|FBLN2_ENST00000535798.1_Missense_Mutation_p.R1172W	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1146	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTACCTGCAGCGGGCCGTGCT	0.617																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3577-3579)Cgg>Tgg		fibulin 2							69.0	78.0	75.0					3																	13679300		2029	4167	6196	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679300C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3436C>T	3.37:g.13679300C>T	ENSP00000295760:p.Arg1146Trp					FBLN2_ENST00000295760.7_Missense_Mutation_p.R1146W|FBLN2_ENST00000535798.1_Missense_Mutation_p.R1172W|FBLN2_ENST00000492059.1_Missense_Mutation_p.R1193W	p.R1193W	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3696	+			1146					B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3577C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632770	0.67015	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;D;T;D	0.81579	-1.49;-1.51;-1.39;-1.51	4.9	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.78801	2.425	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89959	0.4085	10	0.87932	D	0	.	13.9029	0.63817	0.2335:0.7665:0.0:0.0	.	1146;1193;1172	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	W	1172;1193;1146;1193	ENSP00000445705:R1172W;ENSP00000384169:R1193W;ENSP00000295760:R1146W;ENSP00000420042:R1193W	ENSP00000295760:R1146W	R	+	1	2	FBLN2	13654301	1.000000	0.71417	0.997000	0.53966	0.803000	0.45373	1.762000	0.38451	2.539000	0.85634	0.563000	0.77884	CGG		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		10	53	0	0	0	1	0	10	53				
HAT1	8520	broad.mit.edu	37	2	172821917	172821917	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172821917C>T	ENST00000264108.4	+	5	404	c.368C>T	c.(367-369)aCg>aTg	p.T123M	HAT1_ENST00000392584.1_Missense_Mutation_p.T38M|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	123					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCACAAACACGAATGATTTC	0.358																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(367-369)aCg>aTg		histone acetyltransferase 1							65.0	65.0	65.0					2																	172821917		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172821917C>T	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.368C>T	2.37:g.172821917C>T	ENSP00000264108:p.Thr123Met					SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.T38M	p.T123M	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		5	404	+			123					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.368C>T	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528325	0.85706	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.86	5.86	0.93980	Histone acetyl transferase HAT1 N-terminal (2);Acyl-CoA N-acyltransferase (1);	0.086941	0.85682	D	0.000000	T	0.41719	0.1171	N	0.13098	0.295	0.58432	D	0.999996	D	0.61697	0.99	B	0.42062	0.374	T	0.50083	-0.8869	9	0.87932	D	0	-23.766	20.1882	0.98224	0.0:1.0:0.0:0.0	.	123	O14929	HAT1_HUMAN	M	38;123	.	ENSP00000264108:T123M	T	+	2	0	HAT1	172530163	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	4.370000	0.59517	2.783000	0.95769	0.591000	0.81541	ACG		0.358	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		4	40	0	0	0	1	0	4	40				
TMOD2	29767	broad.mit.edu	37	15	52060587	52060587	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52060587C>T	ENST00000249700.4	+	3	476	c.255C>T	c.(253-255)gaC>gaT	p.D85D	TMOD2_ENST00000539962.2_Silent_p.D41D|TMOD2_ENST00000435126.2_Silent_p.D85D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	85					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACAGAGAGGACTTTGTGCCCT	0.502																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(253-255)gaC>gaT		tropomodulin 2 (neuronal)							52.0	47.0	48.0					15																	52060587		2195	4293	6488	SO:0001819	synonymous_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52060587C>T	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.255C>T	15.37:g.52060587C>T						TMOD2_ENST00000435126.2_Silent_p.D85D|TMOD2_ENST00000539962.2_Silent_p.D41D	p.D85D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	3	476	+			85					B4DEW6	Silent	SNP	ENST00000249700.4	37	c.255C>T	CCDS10144.1																																																																																				0.502	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			8	20	0	0	0	1	0	8	20				
BEND3	57673	broad.mit.edu	37	6	107390158	107390158	+	Missense_Mutation	SNP	C	C	T	rs200333807		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390158C>T	ENST00000369042.1	-	4	2427	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	BEND3_ENST00000429433.2_Missense_Mutation_p.R746H			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	746	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGGAAACAGGCGGACGAGGAG	0.632																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(2236-2238)cGc>cAc		BEN domain containing 3							42.0	45.0	44.0					6																	107390158		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107390158C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2237G>A	6.37:g.107390158C>T	ENSP00000358038:p.Arg746His					BEND3_ENST00000369042.1_Missense_Mutation_p.R746H	p.R746H	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2886	-			746			BEN 4.		A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.2237G>A	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218627	0.79464	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.44881	0.91;0.91	5.26	5.26	0.73747	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	N	0.03608	-0.345	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.58595	-0.7609	10	0.66056	D	0.02	-20.3222	18.8619	0.92276	0.0:1.0:0.0:0.0	.	746	Q5T5X7	BEND3_HUMAN	H	746	ENSP00000358038:R746H;ENSP00000411268:R746H	ENSP00000358038:R746H	R	-	2	0	BEND3	107496851	1.000000	0.71417	0.928000	0.36995	0.989000	0.77384	7.438000	0.80431	2.443000	0.82685	0.462000	0.41574	CGC		0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		21	32	0	0	0	1	0	21	32				
USP9X	8239	broad.mit.edu	37	X	41073892	41073892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41073892T>C	ENST00000324545.8	+	34	5894	c.5261T>C	c.(5260-5262)tTg>tCg	p.L1754S	USP9X_ENST00000378308.2_Missense_Mutation_p.L1754S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1754	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTGATTCTTTGGAACAGTAT	0.323																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5260-5262)tTg>tCg		ubiquitin specific peptidase 9, X-linked							65.0	66.0	66.0					X																	41073892		2174	4281	6455	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41073892T>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5261T>C	X.37:g.41073892T>C	ENSP00000316357:p.Leu1754Ser					USP9X_ENST00000378308.2_Missense_Mutation_p.L1754S	p.L1754S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			34	5894	+			1754					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5261T>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392374	0.83011	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.19938	2.11;2.11	5.63	5.63	0.86233	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.050133	0.85682	D	0.000000	T	0.57681	0.2070	H	0.95437	3.67	0.58432	D	0.999997	P;D	0.63880	0.915;0.993	P;D	0.65233	0.89;0.933	T	0.72020	-0.4416	10	0.87932	D	0	.	14.8866	0.70572	0.0:0.0:0.0:1.0	.	1754;1754	Q93008-1;Q93008	.;USP9X_HUMAN	S	1754	ENSP00000367558:L1754S;ENSP00000316357:L1754S	ENSP00000316357:L1754S	L	+	2	0	USP9X	40958836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	1.898000	0.54952	0.481000	0.45027	TTG		0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	79	0	0	0	1	0	8	79				
ARHGEF10L	55160	broad.mit.edu	37	1	17961055	17961055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17961055C>T	ENST00000361221.3	+	17	1902	c.1743C>T	c.(1741-1743)caC>caT	p.H581H	ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000452522.1_Silent_p.H542H|ARHGEF10L_ENST00000375415.1_Silent_p.H542H|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375420.3_Silent_p.H339H|ARHGEF10L_ENST00000375408.3_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	581						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGCCAACCACAGGTACGTGG	0.617																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1741-1743)caC>caT		Rho guanine nucleotide exchange factor (GEF) 10-like							88.0	91.0	90.0					1																	17961055		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17961055C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1743C>T	1.37:g.17961055C>T						ARHGEF10L_ENST00000452522.1_Silent_p.H542H|ARHGEF10L_ENST00000375420.3_Silent_p.H339H|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000375415.1_Silent_p.H542H|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000167825.4_Intron	p.H581H	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	17	1902	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	581					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1743C>T	CCDS182.1																																																																																				0.617	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		31	61	0	0	0	1	0	31	61				
UGT1A7	54577	broad.mit.edu	37	2	234590698	234590698	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234590698T>C	ENST00000373426.3	+	1	115	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	39					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	GAGCCACTGGTTCACCATGCA	0.562																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(115-117)Ttc>Ctc									126.0	108.0	114.0					2																	234590698		2203	4300	6503	SO:0001583	missense	0							g.chr2:234590698T>C	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.115T>C	2.37:g.234590698T>C	ENSP00000362525:p.Phe39Leu					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.F39L	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	115	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.115T>C	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	T	4.139	0.024030	0.08006	.	.	ENSG00000244122	ENST00000373426	T	0.55234	0.53	4.51	3.34	0.38264	.	.	.	.	.	T	0.15435	0.0372	N	0.00778	-1.195	0.32139	N	0.585818	B;B	0.09022	0.002;0.002	B;B	0.15870	0.014;0.014	T	0.39722	-0.9600	9	0.02654	T	1	.	3.2805	0.06913	0.0:0.352:0.0:0.648	.	39;39	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	L	39	ENSP00000362525:F39L	ENSP00000362525:F39L	F	+	1	0	UGT1A7	234255437	0.925000	0.31364	1.000000	0.80357	0.882000	0.50991	-0.035000	0.12205	1.890000	0.54733	0.402000	0.26972	TTC		0.562	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		5	102	0	0	0	1	0	5	102				
EVA1B	55194	broad.mit.edu	37	1	36788090	36788090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36788090C>T	ENST00000270824.1	-	3	595	c.304G>A	c.(304-306)Gca>Aca	p.A102T	SH3D21_ENST00000474766.1_3'UTR|RP11-268J15.5_ENST00000373137.2_5'Flank|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	102						integral component of membrane (GO:0016021)											TCCGGCTCTGCGGACAGCTCG	0.721																																						ENST00000270824.1																			0											c.(304-306)Gca>Aca		eva-1 homolog B (C. elegans)							12.0	14.0	13.0					1																	36788090		2114	4174	6288	SO:0001583	missense	55194							g.chr1:36788090C>T	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 78"", ""family with sequence similarity 176, member B"""	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.304G>A	1.37:g.36788090C>T	ENSP00000270824:p.Ala102Thr					EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	p.A102T	NM_018166.1	NP_060636.1					3	595	-								D3DPS7	Missense_Mutation	SNP	ENST00000270824.1	37	c.304G>A	CCDS406.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677601	0.29783	.	.	ENSG00000142694	ENST00000270824	T	0.42131	0.98	5.01	-2.54	0.06307	.	1.328750	0.04746	N	0.423607	T	0.13841	0.0335	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23868	-1.0176	10	0.10111	T	0.7	-0.6167	7.9756	0.30153	0.0:0.1505:0.4228:0.4267	.	102	Q9NVM1	F176B_HUMAN	T	102	ENSP00000270824:A102T	ENSP00000270824:A102T	A	-	1	0	FAM176B	36560677	0.000000	0.05858	0.000000	0.03702	0.652000	0.38707	-1.715000	0.01880	-0.439000	0.07222	0.462000	0.41574	GCA		0.721	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		5	15	0	0	0	1	0	5	15				
PODN	127435	broad.mit.edu	37	1	53542887	53542887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542887C>A	ENST00000312553.5	+	6	758	c.751C>A	c.(751-753)Ctg>Atg	p.L251M	PODN_ENST00000371500.3_Missense_Mutation_p.L232M|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	203					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAACAACAAGCTGGCAGACGC	0.627																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(694-696)Ctg>Atg		podocan							81.0	86.0	84.0					1																	53542887		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53542887C>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.751C>A	1.37:g.53542887C>A	ENSP00000308315:p.Leu251Met					RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.L251M	p.L232M	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			8	1035	+			203					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.694C>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866673	0.72065	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.28255	3.13;1.62	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.61862	0.2381	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66077	-0.6013	10	0.54805	T	0.06	.	18.7385	0.91765	0.0:1.0:0.0:0.0	.	232;251	Q7Z5L7-2;Q7Z5L7-3	.;.	M	232;251	ENSP00000360555:L232M;ENSP00000308315:L251M	ENSP00000308315:L251M	L	+	1	2	PODN	53315475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.525000	0.53502	2.655000	0.90218	0.655000	0.94253	CTG		0.627	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		5	99	1	0	0.184627	1	0.186383	5	99				
ASPM	259266	broad.mit.edu	37	1	197112714	197112714	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197112714G>T	ENST00000367409.4	-	3	924	c.668C>A	c.(667-669)cCt>cAt	p.P223H	ASPM_ENST00000294732.7_Missense_Mutation_p.P223H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	223					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGGCTAATAGGTGATATGGG	0.413																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(667-669)cCt>cAt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							125.0	118.0	120.0					1																	197112714		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112714G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.668C>A	1.37:g.197112714G>T	ENSP00000356379:p.Pro223His					ASPM_ENST00000294732.7_Missense_Mutation_p.P223H	p.P223H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	924	-			223					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.668C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137656	0.56936	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.63744	-0.06;1.33	5.25	4.34	0.51931	.	0.270973	0.31949	N	0.006810	T	0.72953	0.3525	M	0.63843	1.955	0.26782	N	0.969577	D;B	0.71674	0.998;0.019	P;B	0.60173	0.87;0.004	T	0.68492	-0.5394	10	0.72032	D	0.01	.	14.2489	0.66007	0.0722:0.0:0.9278:0.0	.	223;223	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	223	ENSP00000356379:P223H;ENSP00000294732:P223H	ENSP00000294732:P223H	P	-	2	0	ASPM	195379337	1.000000	0.71417	0.382000	0.26119	0.690000	0.40134	5.017000	0.64047	1.358000	0.45922	0.637000	0.83480	CCT		0.413	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		5	102	1	0	8.12818e-05	1	8.99451e-05	5	102				
PLEKHM1P	440456	broad.mit.edu	37	17	62825337	62825337	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62825337G>A	ENST00000582986.1	-	0	129					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CTCCACTCACGCAGCTGCTCC	0.597																																						ENST00000582986.1																			0																																																			0							g.chr17:62825337G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62825337G>A								NR_024386.1						0	129	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.597	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		8	13	0	0	0	1	0	8	13				
FAM13B	51306	broad.mit.edu	37	5	137289855	137289855	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137289855C>A	ENST00000033079.3	-	14	2103	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	FAM13B_ENST00000420893.2_Splice_Site_p.R551I|FAM13B_ENST00000425075.2_Splice_Site_p.R455I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	551					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AATCATATACCTAGTAAAAGA	0.388																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.e14+1		family with sequence similarity 13, member B							67.0	65.0	66.0					5																	137289855		2203	4300	6503	SO:0001630	splice_region_variant	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137289855C>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1652+1G>T	5.37:g.137289855C>A						FAM13B_ENST00000420893.2_Splice_Site_p.R551_splice|FAM13B_ENST00000425075.2_Splice_Site_p.R455_splice	p.R551_splice	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			14	2103	-			551					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Splice_Site	SNP	ENST00000033079.3	37	c.1652_splice	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429998	0.83776	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.27256	2.84;1.68;2.84	5.49	5.49	0.81192	.	0.083341	0.64402	D	0.000002	T	0.48484	0.1502	L	0.60845	1.875	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;D;P	0.74348	0.931;0.983;0.854	T	0.30416	-0.9979	9	.	.	.	-6.7113	18.3606	0.90372	0.0:1.0:0.0:0.0	.	455;551;551	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	I	551;455;551	ENSP00000033079:R551I;ENSP00000394669:R455I;ENSP00000388521:R551I	.	R	-	2	0	FAM13B	137317754	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	6.298000	0.72763	2.576000	0.86940	0.585000	0.79938	AGA		0.388	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		Missense_Mutation	5	41	1	0	0.00116845	1	0.00124821	5	41				
TCF20	6942	broad.mit.edu	37	22	42609038	42609038	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42609038C>A	ENST00000359486.3	-	1	2410	c.2274G>T	c.(2272-2274)caG>caT	p.Q758H	TCF20_ENST00000335626.4_Missense_Mutation_p.Q758H|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGTAACCCTGAAGCACTT	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2272-2274)caG>caT		transcription factor 20 (AR1)							137.0	110.0	119.0					22																	42609038		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609038C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2274G>T	22.37:g.42609038C>A	ENSP00000352463:p.Gln758His					TCF20_ENST00000335626.4_Missense_Mutation_p.Q758H	p.Q758H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2410	-			758					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2274G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366363	0.41902	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.72505	-0.66;-0.65	5.83	-0.164	0.13359	.	0.000000	0.64402	D	0.000003	T	0.67515	0.2901	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.986	T	0.65311	-0.6199	10	0.87932	D	0	-12.9092	5.3795	0.16183	0.1274:0.461:0.0:0.4116	.	758;758	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	H	758	ENSP00000352463:Q758H;ENSP00000335561:Q758H	ENSP00000335561:Q758H	Q	-	3	2	TCF20	40938982	0.996000	0.38824	0.998000	0.56505	0.971000	0.66376	0.310000	0.19356	0.098000	0.17522	0.655000	0.94253	CAG		0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		20	30	1	0	8.34094e-07	1	9.69005e-07	20	30				
MPI	4351	broad.mit.edu	37	15	75190063	75190063	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75190063C>T	ENST00000352410.4	+	8	1331	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	MPI_ENST00000323744.6_Silent_p.L361L|MPI_ENST00000563786.1_Silent_p.L402L|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000535694.1_Silent_p.L372L			P34949	MPI_HUMAN	mannose phosphate isomerase	422					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCTGCTGTCTGCTGTAAAG	0.592																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1264-1266)Ctg>Ttg		mannose phosphate isomerase							125.0	112.0	116.0					15																	75190063		2197	4295	6492	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75190063C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1264C>T	15.37:g.75190063C>T						MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.L361L|MPI_ENST00000535694.1_Silent_p.L372L|MPI_ENST00000563786.1_Silent_p.L402L	p.L422L			P34949	MPI_HUMAN			8	1331	+			422					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.1264C>T	CCDS10272.1																																																																																				0.592	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			6	27	0	0	0	1	0	6	27				
PLEC	5339	broad.mit.edu	37	8	145001826	145001826	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145001826G>A	ENST00000322810.4	-	27	4088	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	PLEC_ENST00000527096.1_Missense_Mutation_p.R1193W|PLEC_ENST00000354589.3_Missense_Mutation_p.R1170W|PLEC_ENST00000356346.3_Missense_Mutation_p.R1156W|PLEC_ENST00000354958.2_Missense_Mutation_p.R1148W|PLEC_ENST00000398774.2_Missense_Mutation_p.R1138W|PLEC_ENST00000436759.2_Missense_Mutation_p.R1197W|PLEC_ENST00000357649.2_Missense_Mutation_p.R1174W|PLEC_ENST00000345136.3_Missense_Mutation_p.R1170W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1307	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCACGTCCCGCTCCCCGTGC	0.741																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(3919-3921)Cgg>Tgg		plectin							5.0	6.0	6.0					8																	145001826		1976	3957	5933	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001826G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3919C>T	8.37:g.145001826G>A	ENSP00000323856:p.Arg1307Trp					PLEC_ENST00000354589.3_Missense_Mutation_p.R1170W|PLEC_ENST00000345136.3_Missense_Mutation_p.R1170W|PLEC_ENST00000354958.2_Missense_Mutation_p.R1148W|PLEC_ENST00000356346.3_Missense_Mutation_p.R1156W|PLEC_ENST00000357649.2_Missense_Mutation_p.R1174W|PLEC_ENST00000527096.1_Missense_Mutation_p.R1193W|PLEC_ENST00000436759.2_Missense_Mutation_p.R1197W|PLEC_ENST00000398774.2_Missense_Mutation_p.R1138W	p.R1307W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4088	-			1307			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3919C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172639	0.38413	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78481	-1.14;-1.14;-1.18;-1.17;-1.15;-1.14;-1.14;-1.14;-1.14	5.44	4.56	0.56223	.	0.095368	0.40908	U	0.000986	D	0.85784	0.5777	M	0.66297	2.02	0.53688	D	0.999972	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.70935	0.971;0.971;0.971;0.936;0.971;0.971;0.971;0.971	D	0.87025	0.2131	10	0.72032	D	0.01	.	13.7242	0.62748	0.0:0.0:0.7199:0.2801	.	1197;1156;1148;1307;1138;1170;1174;1170	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	1170;1174;1170;1138;1307;1148;1156;1197;1193	ENSP00000344848:R1170W;ENSP00000350277:R1174W;ENSP00000346602:R1170W;ENSP00000381756:R1138W;ENSP00000323856:R1307W;ENSP00000347044:R1148W;ENSP00000348702:R1156W;ENSP00000388180:R1197W;ENSP00000434583:R1193W	ENSP00000323856:R1307W	R	-	1	2	PLEC	145073814	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.417000	0.59822	1.266000	0.44231	0.637000	0.83480	CGG		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	5	0	0	0	1	0	3	5				
RTTN	25914	broad.mit.edu	37	18	67742591	67742591	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67742591T>G	ENST00000255674.6	-	33	4847	c.4561A>C	c.(4561-4563)Aat>Cat	p.N1521H	RTTN_ENST00000437017.1_Missense_Mutation_p.N1521H|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1521					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TACTTACCATTTAAATCATTG	0.239																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4561-4563)Aat>Cat		rotatin							57.0	54.0	55.0					18																	67742591		1790	4062	5852	SO:0001583	missense	25914						binding	g.chr18:67742591T>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4561A>C	18.37:g.67742591T>G	ENSP00000255674:p.Asn1521His					RTTN_ENST00000437017.1_Missense_Mutation_p.N1521H|RTTN_ENST00000454359.1_3'UTR	p.N1521H	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			33	4847	-		Esophageal squamous(42;0.129)	1521					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4561A>C	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663892	0.47572	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.68025	0.42;-0.3	5.52	5.52	0.82312	.	0.378311	0.29699	N	0.011440	T	0.77798	0.4184	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.78745	-0.2084	10	0.52906	T	0.07	.	14.2222	0.65836	0.0:0.0:0.0:1.0	.	1521	Q86VV8	RTTN_HUMAN	H	1521	ENSP00000255674:N1521H;ENSP00000399520:N1521H	ENSP00000255674:N1521H	N	-	1	0	RTTN	65893571	0.999000	0.42202	0.921000	0.36526	0.242000	0.25591	3.738000	0.55067	2.090000	0.63153	0.454000	0.30748	AAT		0.239	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		18	32	0	0	0	1	0	18	32				
SLC6A18	348932	broad.mit.edu	37	5	1235772	1235772	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1235772G>T	ENST00000324642.3	+	4	739	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206W	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	206					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGAGACTACAGGGAAGGTGAG	0.572																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(616-618)Ggg>Tgg		solute carrier family 6 (neutral amino acid transporter), member 18							142.0	154.0	150.0					5																	1235772		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1235772G>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.616G>T	5.37:g.1235772G>T	ENSP00000323549:p.Gly206Trp					SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206W	p.G206W	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	739	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		206						Missense_Mutation	SNP	ENST00000324642.3	37	c.616G>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357729	0.61403	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.81163	-1.46;-1.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95826	0.8854	10	0.87932	D	0	.	18.6506	0.91429	0.0:0.0:1.0:0.0	.	206	Q96N87	S6A18_HUMAN	W	206	ENSP00000323549:G206W;ENSP00000296821:G206W	ENSP00000296821:G206W	G	+	1	0	SLC6A18	1288772	1.000000	0.71417	0.754000	0.31244	0.274000	0.26718	9.137000	0.94496	2.507000	0.84556	0.655000	0.94253	GGG		0.572	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		27	57	1	0	5.61819e-17	1	7.26839e-17	27	57				
MARVELD2	153562	broad.mit.edu	37	5	68715761	68715761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715761C>A	ENST00000325631.5	+	2	623	c.549C>A	c.(547-549)taC>taA	p.Y183*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.Y183*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	183					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACCTGAGATACTCCTACATGA	0.517																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(547-549)taC>taA		MARVEL domain containing 2							146.0	141.0	143.0					5																	68715761		2203	4300	6503	SO:0001587	stop_gained	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68715761C>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.549C>A	5.37:g.68715761C>A	ENSP00000323264:p.Tyr183*					MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.Y183*	p.Y183*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	623	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	183					A1BQX0|A1BQX1|A8KA97|Q96NM9	Nonsense_Mutation	SNP	ENST00000325631.5	37	c.549C>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963102	0.92791	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	.	.	.	5.16	-8.13	0.01073	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1914	21.8205	0.99961	0.0:0.8815:0.0:0.1185	.	.	.	.	X	183	.	ENSP00000282886:Y183X	Y	+	3	2	MARVELD2	68751517	0.009000	0.17119	0.016000	0.15963	0.537000	0.34900	-0.677000	0.05215	-1.513000	0.01789	-0.290000	0.09829	TAC		0.517	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		22	55	1	0	3.73194e-20	1	4.89492e-20	22	55				
TMC2	117532	broad.mit.edu	37	20	2577918	2577918	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2577918T>C	ENST00000358864.1	+	10	1213	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	400					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGATAACAAATATGCATCCAT	0.512																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1198-1200)Tat>Cat		transmembrane channel-like 2							123.0	96.0	105.0					20																	2577918		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2577918T>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1198T>C	20.37:g.2577918T>C	ENSP00000351732:p.Tyr400His						p.Y400H	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			10	1213	+			400					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1198T>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152245	0.57259	.	.	ENSG00000149488	ENST00000358864	T	0.39997	1.05	5.58	5.58	0.84498	.	0.121540	0.56097	D	0.000032	T	0.53142	0.1778	L	0.50333	1.59	0.38181	D	0.939623	D;D;D;D	0.69078	0.966;0.984;0.997;0.995	P;P;D;P	0.68192	0.707;0.736;0.956;0.862	T	0.50389	-0.8834	10	0.09338	T	0.73	-6.7863	14.0174	0.64531	0.0:0.0:0.0:1.0	.	231;232;400;400	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	H	400	ENSP00000351732:Y400H	ENSP00000351732:Y400H	Y	+	1	0	TMC2	2525918	1.000000	0.71417	0.912000	0.35992	0.809000	0.45718	5.030000	0.64128	2.261000	0.74972	0.533000	0.62120	TAT		0.512	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			17	17	0	0	0	1	0	17	17				
TLR8	51311	broad.mit.edu	37	X	12937546	12937546	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12937546G>A	ENST00000218032.6	+	2	474	c.387G>A	c.(385-387)gaG>gaA	p.E129E	TLR8_ENST00000311912.5_Silent_p.E147E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	129					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACCTAAGGGAGTTACTGCTTG	0.408																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(385-387)gaG>gaA		toll-like receptor 8							95.0	98.0	97.0					X																	12937546		2203	4300	6503	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937546G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.387G>A	X.37:g.12937546G>A						TLR8_ENST00000311912.5_Silent_p.E147E	p.E129E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	474	+			129					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.387G>A	CCDS14152.1																																																																																				0.408	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		63	96	0	0	0	1	0	63	96				
KCNQ5	56479	broad.mit.edu	37	6	73713638	73713638	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73713638C>A	ENST00000370398.1	+	2	515	c.406C>A	c.(406-408)Ctt>Att	p.L136I	KCNQ5_ENST00000370392.1_Missense_Mutation_p.L136I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L136I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355194.4_Splice_Site	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	136					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.L136I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAGTTTTCTCCTTGTCTTTGG	0.378																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			1	Substitution - Missense(1)	p.L136I(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(406-408)Ctt>Att		potassium voltage-gated channel, KQT-like subfamily, member 5							217.0	172.0	187.0					6																	73713638		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713638C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.406C>A	6.37:g.73713638C>A	ENSP00000359425:p.Leu136Ile					KCNQ5_ENST00000403813.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355194.4_Splice_Site|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L136I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L136I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L136I	p.L136I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	2	804	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	136					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.406C>A	CCDS4976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.81|17.81	3.480402|3.480402	0.63849|0.63849	.|.	.|.	ENSG00000185760|ENSG00000185760	ENST00000451840;ENST00000355194|ENST00000342056;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	.|D;D;D;D;D;D;D	.|0.87412	.|-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.81009	.|0.4734	N|N	0.17723|0.17723	0.515|0.515	0.40009|0.40009	D|D	0.975264|0.975264	.|P;D;P;P;P;P	.|0.54207	.|0.92;0.965;0.874;0.871;0.575;0.668	.|P;P;B;B;P;P	.|0.53593	.|0.621;0.73;0.241;0.279;0.463;0.54	.|T	.|0.78590	.|-0.2145	.|10	.|0.19590	.|T	.|0.45	.|.	18.7003|18.7003	0.91618|0.91618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|136;136;136;136;136;136	.|F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.|.;.;.;.;KCNQ5_HUMAN;.	.|I	-1|136	.|ENSP00000345055:L136I;ENSP00000359425:L136I;ENSP00000359419:L136I;ENSP00000385501:L136I;ENSP00000347853:L136I;ENSP00000384453:L136I;ENSP00000409861:L136I	.|ENSP00000345055:L136I	.|L	+|+	.|1	.|0	KCNQ5|KCNQ5	73770359|73770359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.464000|5.464000	0.66719|0.66719	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	.|CTT		0.378	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		6	45	1	0	2.0095e-06	1	2.31757e-06	6	45				
FHDC1	85462	broad.mit.edu	37	4	153896906	153896906	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153896906C>A	ENST00000511601.1	+	12	2651	c.2463C>A	c.(2461-2463)tcC>tcA	p.S821S	FHDC1_ENST00000260008.3_Silent_p.S821S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	821									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAAGTCTCCTCCAACCCTA	0.662																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2461-2463)tcC>tcA		FH2 domain containing 1							53.0	66.0	62.0					4																	153896906		2203	4299	6502	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153896906C>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2463C>A	4.37:g.153896906C>A						FHDC1_ENST00000260008.3_Silent_p.S821S	p.S821S			Q9C0D6	FHDC1_HUMAN			12	2651	+	all_hematologic(180;0.093)		821						Silent	SNP	ENST00000511601.1	37	c.2463C>A	CCDS34081.1																																																																																				0.662	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		7	87	1	0	0.000274275	1	0.000298791	7	87				
DPH5	51611	broad.mit.edu	37	1	101458213	101458213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101458213C>A	ENST00000370109.3	-	7	726	c.614G>T	c.(613-615)aGa>aTa	p.R205I	RP11-421L21.2_ENST00000414686.1_RNA|DPH5_ENST00000427040.2_Intron|DPH5_ENST00000342173.7_Missense_Mutation_p.R205I|DPH5_ENST00000488176.1_Missense_Mutation_p.R205I|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	205					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCCTCGTATTCTTTGATTTTG	0.398																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(613-615)aGa>aTa		diphthamide biosynthesis 5							175.0	165.0	168.0					1																	101458213		1848	4095	5943	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101458213C>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.614G>T	1.37:g.101458213C>A	ENSP00000359127:p.Arg205Ile					DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R205I|DPH5_ENST00000342173.7_Missense_Mutation_p.R205I|DPH5_ENST00000427040.2_Intron	p.R205I	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	7	726	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	205					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.614G>T	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863085	0.32884	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	6.06	6.06	0.98353	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (2);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.58101	1.795	0.80722	D	1	B;B	0.20887	0.049;0.049	B;B	0.24155	0.051;0.051	T	0.49862	-0.8894	9	0.54805	T	0.06	-21.3259	14.4052	0.67079	0.0:0.9292:0.0:0.0708	.	205;205	Q9H2P9;A8JZY6	DPH5_HUMAN;.	I	205;204;154;205;205	.	ENSP00000339630:R205I	R	-	2	0	DPH5	101230801	0.968000	0.33430	0.058000	0.19502	0.005000	0.04900	3.409000	0.52657	2.871000	0.98454	0.655000	0.94253	AGA		0.398	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		6	102	1	0	5.18039e-06	1	5.91835e-06	6	102				
RIMS1	22999	broad.mit.edu	37	6	73110297	73110297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73110297G>A	ENST00000521978.1	+	34	4960	c.4960G>A	c.(4960-4962)Gga>Aga	p.G1654R	RIMS1_ENST00000538414.1_Missense_Mutation_p.G460R|RIMS1_ENST00000264839.7_Missense_Mutation_p.G1503R|RIMS1_ENST00000414192.2_Missense_Mutation_p.G181R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1253R|RIMS1_ENST00000401910.3_Missense_Mutation_p.G974R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G1304R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1333R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1443R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1437R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G779R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.G788R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1437R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G722R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1654					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATGGTGATCGGATGGTACAA	0.542																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4507-4509)Gga>Aga		regulating synaptic membrane exocytosis 1							136.0	141.0	139.0					6																	73110297		2094	4246	6340	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73110297G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4960G>A	6.37:g.73110297G>A	ENSP00000428417:p.Gly1654Arg					RIMS1_ENST00000517827.1_Missense_Mutation_p.G788R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1443R|RIMS1_ENST00000414192.2_Missense_Mutation_p.G181R|RIMS1_ENST00000538414.1_Missense_Mutation_p.G460R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G1304R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1437R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1253R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1654R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G779R|RIMS1_ENST00000401910.3_Missense_Mutation_p.G974R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000425662.2_Missense_Mutation_p.G722R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1333R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1437R	p.G1503R			Q86UR5	RIMS1_HUMAN			30	4507	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1654					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4507G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.042765|5.042765	0.93685|0.93685	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75821|.	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97|.	5.21|5.21	5.21|5.21	0.72293|0.72293	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.79155|0.79155	0.4398|0.4398	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.922;1.0;0.992;1.0;1.0;0.999;1.0;1.0;1.0;0.999;0.999;1.0|.	T|T	0.80106|0.80106	-0.1521|-0.1521	10|5	0.72032|.	D|.	0.01|.	-18.8931|-18.8931	19.1289|19.1289	0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	278;460;788;779;1503;974;1253;557;1333;1437;730;1443;1654|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	R|Q	1443;1503;1443;1437;1333;1253;1503;1437;1333;1304;1253;1654;974;779;722;788;702;460;181|999	ENSP00000430101:G1443R;ENSP00000275037:G1437R;ENSP00000264839:G1503R;ENSP00000429959:G1437R;ENSP00000430408:G1333R;ENSP00000430502:G1304R;ENSP00000430932:G1253R;ENSP00000428417:G1654R;ENSP00000385649:G974R;ENSP00000428328:G779R;ENSP00000411235:G722R;ENSP00000428367:G788R;ENSP00000359448:G702R;ENSP00000439730:G460R;ENSP00000402273:G181R|.	ENSP00000264839:G1503R|.	G|R	+|+	1|2	0|0	RIMS1|RIMS1	73167018|73167018	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.955000|0.955000	0.61496|0.61496	9.735000|9.735000	0.98825|0.98825	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.542	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			31	34	0	0	0	1	0	31	34				
TOB1	10140	broad.mit.edu	37	17	48940436	48940436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48940436C>T	ENST00000268957.3	-	3	1371	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_Missense_Mutation_p.G315S	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	315					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCATTGAGGCCTCCATAGGCT	0.413																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(943-945)Ggc>Agc		transducer of ERBB2, 1							65.0	67.0	66.0					17																	48940436		2203	4300	6503	SO:0001583	missense	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940436C>T	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.943G>A	17.37:g.48940436C>T	ENSP00000268957:p.Gly315Ser					TOB1_ENST00000268957.3_Missense_Mutation_p.G315S	p.G315S	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1376	-			315					B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	c.943G>A	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076421	0.36662	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.49139	0.79;0.79	5.84	5.84	0.93424	.	0.154950	0.64402	D	0.000015	T	0.36413	0.0966	N	0.12961	0.28	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08472	-1.0720	10	0.44086	T	0.13	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	315	P50616	TOB1_HUMAN	S	315	ENSP00000427695:G315S;ENSP00000268957:G315S	ENSP00000268957:G315S	G	-	1	0	TOB1	46295435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.566000	0.45948	2.764000	0.94973	0.650000	0.86243	GGC		0.413	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			27	46	0	0	0	1	0	27	46				
CLTCL1	8218	broad.mit.edu	37	22	19213861	19213861	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19213861G>T	ENST00000263200.10	-	12	1900	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	CLTCL1_ENST00000353891.5_Silent_p.R610R|CLTCL1_ENST00000427926.1_Silent_p.R610R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	610	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTGGGCCCGGTCGTAATGA	0.502			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1828-1830)Cgg>Agg		clathrin, heavy chain-like 1							97.0	97.0	97.0					22																	19213861		1998	4160	6158	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19213861G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1828C>A	22.37:g.19213861G>T						CLTCL1_ENST00000353891.5_Silent_p.R610R|CLTCL1_ENST00000427926.1_Silent_p.R610R	p.R610R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			12	1900	-	Colorectal(54;0.0993)		610			Distal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.1828C>A	CCDS46662.1																																																																																				0.502	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		20	29	1	0	1.22574e-08	1	1.47244e-08	20	29				
PCDHGA10	56106	broad.mit.edu	37	5	140794055	140794055	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140794055C>T	ENST00000398610.2	+	1	1313	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	438	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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTATCAACGGAAGCTCAC	0.463																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1312-1314)aCg>aTg									181.0	186.0	184.0					5																	140794055		2031	4183	6214	SO:0001583	missense	0							g.chr5:140794055C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1313C>T	5.37:g.140794055C>T	ENSP00000381611:p.Thr438Met					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T438M	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1313	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1313C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	7.681	0.689011	0.14973	.	.	ENSG00000253846	ENST00000398610	T	0.53857	0.6	5.11	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70509	0.3232	H	0.98068	4.14	0.09310	N	0.999997	P;D	0.56035	0.759;0.974	B;P	0.45428	0.245;0.48	T	0.70846	-0.4761	9	0.87932	D	0	.	9.6671	0.39992	0.0:0.8421:0.0:0.1579	.	438;438	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	M	438	ENSP00000381611:T438M	ENSP00000381611:T438M	T	+	2	0	PCDHGA10	140774239	0.000000	0.05858	0.038000	0.18304	0.030000	0.12068	-0.230000	0.09083	1.148000	0.42385	0.650000	0.86243	ACG		0.463	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		70	111	0	0	0	1	0	70	111				
UBR1	197131	broad.mit.edu	37	15	43307949	43307949	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43307949T>C	ENST00000290650.4	-	29	3224	c.3146A>G	c.(3145-3147)aAa>aGa	p.K1049R	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1049					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATACATGAGTTTATGAGTTTC	0.373																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(3145-3147)aAa>aGa		ubiquitin protein ligase E3 component n-recognin 1							191.0	183.0	186.0					15																	43307949		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43307949T>C		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3146A>G	15.37:g.43307949T>C	ENSP00000290650:p.Lys1049Arg					UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	p.K1049R	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	29	3224	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1049					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.3146A>G	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082076	0.55861	.	.	ENSG00000159459	ENST00000290650	T	0.53857	0.6	5.65	5.65	0.86999	.	0.045605	0.85682	N	0.000000	T	0.46927	0.1418	L	0.55743	1.74	0.80722	D	1	B;B	0.25390	0.076;0.125	B;B	0.24848	0.049;0.056	T	0.39522	-0.9610	10	0.29301	T	0.29	-13.5251	11.1045	0.48194	0.0:0.071:0.0:0.929	.	1049;1049	B4DYL2;Q8IWV7	.;UBR1_HUMAN	R	1049	ENSP00000290650:K1049R	ENSP00000290650:K1049R	K	-	2	0	UBR1	41095241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.710000	0.61873	2.371000	0.80710	0.533000	0.62120	AAA		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		9	148	0	0	0	1	0	9	148				
GHRHR	2692	broad.mit.edu	37	7	31018826	31018826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31018826C>T	ENST00000326139.2	+	13	1285	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R	GHRHR_ENST00000409904.3_Silent_p.R349R|GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000461424.1_Intron	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	413					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CGCCTTCCCGCTCGGCGGCAA	0.602																																						ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1045-1047)cgC>cgT		growth hormone releasing hormone receptor	Sermorelin(DB00010)						112.0	84.0	93.0					7																	31018826		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31018826C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1239C>T	7.37:g.31018826C>T						GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000326139.2_Silent_p.R413R	p.R349R			Q02643	GHRHR_HUMAN			10	1305	+			413					Q99863	Silent	SNP	ENST00000326139.2	37	c.1047C>T	CCDS5432.1																																																																																				0.602	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			5	54	0	0	0	1	0	5	54				
OR7C1	26664	broad.mit.edu	37	19	14910065	14910065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14910065G>A	ENST00000248073.2	-	1	958	c.884C>T	c.(883-885)aCg>aTg	p.T295M	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	295					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CTTCATGTCCGTGTTCCTCAG	0.517																																						ENST00000248073.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(883-885)aCg>aTg		olfactory receptor, family 7, subfamily C, member 1							84.0	83.0	84.0					19																	14910065		2203	4300	6503	SO:0001583	missense	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910065G>A	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.884C>T	19.37:g.14910065G>A	ENSP00000248073:p.Thr295Met					OR7A5_ENST00000601611.1_Intron	p.T295M	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN			1	958	-			295					Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	c.884C>T	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	g	10.59	1.392334	0.25118	.	.	ENSG00000127530	ENST00000248073	T	0.38077	1.16	3.64	-7.27	0.01461	.	1.198800	0.06651	U	0.762776	T	0.21227	0.0511	L	0.29908	0.895	0.09310	N	1	P	0.50528	0.936	B	0.40165	0.321	T	0.37753	-0.9692	10	0.87932	D	0	.	6.9679	0.24632	0.0:0.257:0.2174:0.5256	.	295	O76099	OR7C1_HUMAN	M	295	ENSP00000248073:T295M	ENSP00000248073:T295M	T	-	2	0	OR7C1	14771065	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.448000	0.02394	-1.505000	0.01807	-3.115000	0.00062	ACG		0.517	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			27	31	0	0	0	1	0	27	31				
CPZ	8532	broad.mit.edu	37	4	8607726	8607726	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8607726G>T	ENST00000360986.4	+	5	894	c.720G>T	c.(718-720)gaG>gaT	p.E240D	CPZ_ENST00000315782.6_Missense_Mutation_p.E229D|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.E103D	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	240					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E240D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGAGCCCGAGGTGAAGCTCA	0.587																																						ENST00000382480.2																			1	Substitution - Missense(1)	p.E240D(1)	large_intestine(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(307-309)gaG>gaT		carboxypeptidase Z							90.0	81.0	84.0					4																	8607726		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8607726G>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.720G>T	4.37:g.8607726G>T	ENSP00000354255:p.Glu240Asp					CPZ_ENST00000360986.4_Missense_Mutation_p.E240D|CPZ_ENST00000315782.6_Missense_Mutation_p.E229D|CPZ_ENST00000429646.2_5'UTR	p.E103D	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			5	1109	+			240			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.309G>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	19.59	3.856802	0.71834	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.11821	2.74;2.74;2.74	3.34	2.35	0.29111	Peptidase M14, carboxypeptidase A (2);	0.288219	0.32753	U	0.005688	T	0.28433	0.0703	M	0.74881	2.28	0.80722	D	1	D;D	0.65815	0.99;0.995	P;D	0.65140	0.719;0.932	T	0.02933	-1.1092	10	0.87932	D	0	-18.4575	5.2799	0.15670	0.2931:0.0:0.7069:0.0	.	229;240	Q66K79-2;Q66K79	.;CBPZ_HUMAN	D	240;103;229	ENSP00000354255:E240D;ENSP00000371920:E103D;ENSP00000315074:E229D	ENSP00000315074:E229D	E	+	3	2	CPZ	8658626	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.444000	0.44890	1.713000	0.51359	0.461000	0.40582	GAG		0.587	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	51	1	0	0.014758	1	0.0152625	5	51				
PRDX1	5052	broad.mit.edu	37	1	45977087	45977087	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45977087C>T	ENST00000262746.1	-	6	854		c.e6-1		PRDX1_ENST00000372079.1_Splice_Site|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GCTGGGCACACTGCAAGAGAA	0.468																																						ENST00000262746.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.e6-1		peroxiredoxin 1							144.0	150.0	148.0					1																	45977087		2203	4300	6503	SO:0001630	splice_region_variant	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45977087C>T	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.515-1G>A	1.37:g.45977087C>T						PRDX1_ENST00000372079.1_Splice_Site|PRDX1_ENST00000319248.8_Splice_Site		NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN			6	854	-	Acute lymphoblastic leukemia(166;0.155)							B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Splice_Site	SNP	ENST00000262746.1	37		CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316487	0.81469	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0071	0.89212	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDX1	45749674	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.794000	0.85869	2.240000	0.73641	0.462000	0.41574	.		0.468	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697	Intron	19	170	0	0	0	1	0	19	170				
DOCK1	1793	broad.mit.edu	37	10	128850978	128850978	+	Silent	SNP	C	C	T	rs369997788	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128850978C>T	ENST00000280333.6	+	22	2281	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	724					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTACGTGGACGGTGCTGAGA	0.433													C|||	5	0.000998403	0.0	0.0	5008	,	,		18423	0.005		0.0	False		,,,				2504	0.0					ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(2170-2172)gaC>gaT		dedicator of cytokinesis 1		C		0,3998		0,0,1999	129.0	135.0	133.0		2127	3.4	1.0	10		133	1,8343		0,1,4171	no	coding-synonymous	DOCK1	NM_001380.3		0,1,6170	TT,TC,CC		0.012,0.0,0.0081		709/1851	128850978	1,12341	1999	4172	6171	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128850978C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2172C>T	10.37:g.128850978C>T							p.D724D	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	22	2281	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	724					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.2172C>T																																																																																					0.433	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		29	36	0	0	0	1	0	29	36				
TOP3A	7156	broad.mit.edu	37	17	18181375	18181375	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18181375T>A	ENST00000321105.5	-	18	2655	c.2441A>T	c.(2440-2442)aAc>aTc	p.N814I	TOP3A_ENST00000542570.1_Missense_Mutation_p.N719I|TOP3A_ENST00000540524.1_Missense_Mutation_p.N344I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	814	2 X 27 AA approximate repeats.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGCCACAGTTGCAGGTCAC	0.612																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2440-2442)aAc>aTc		topoisomerase (DNA) III alpha							50.0	53.0	52.0					17																	18181375		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181375T>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2441A>T	17.37:g.18181375T>A	ENSP00000321636:p.Asn814Ile					TOP3A_ENST00000540524.1_Missense_Mutation_p.N344I|TOP3A_ENST00000542570.1_Missense_Mutation_p.N719I	p.N814I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2655	-			814			2 X 27 AA approximate repeats.		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2441A>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806128	0.50421	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.24538	1.85;1.85;1.85	5.55	5.55	0.83447	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	M	0.76838	2.35	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.71414	0.973;0.973	T	0.54296	-0.8315	10	0.49607	T	0.09	-37.346	15.6891	0.77436	0.0:0.0:0.0:1.0	.	719;814	B4DK80;Q13472	.;TOP3A_HUMAN	I	814;344;719	ENSP00000321636:N814I;ENSP00000446425:N344I;ENSP00000442336:N719I	ENSP00000321636:N814I	N	-	2	0	TOP3A	18122100	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.024000	0.70857	2.117000	0.64856	0.448000	0.29417	AAC		0.612	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			29	45	0	0	0	1	0	29	45				
WDR7	23335	broad.mit.edu	37	18	54398622	54398622	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54398622G>T	ENST00000254442.3	+	14	1994	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y	WDR7_ENST00000357574.3_Missense_Mutation_p.D595Y|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	595					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTGCATTGGATCGTTGTGT	0.348																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1783-1785)Gat>Tat		WD repeat domain 7							90.0	81.0	84.0					18																	54398622		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398622G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1783G>T	18.37:g.54398622G>T	ENSP00000254442:p.Asp595Tyr					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D595Y	p.D595Y	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	1994	+			595					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1783G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719909	0.68844	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.70045	-0.45;-0.44	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.75539	-0.3282	10	0.46703	T	0.11	.	18.5514	0.91066	0.0:0.0:1.0:0.0	.	595;595	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Y	595	ENSP00000254442:D595Y;ENSP00000350187:D595Y	ENSP00000254442:D595Y	D	+	1	0	WDR7	52549620	1.000000	0.71417	0.997000	0.53966	0.462000	0.32619	9.788000	0.99064	2.479000	0.83701	0.563000	0.77884	GAT		0.348	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			18	40	1	0	6.49762e-13	1	8.19883e-13	18	40				
GRK1	6011	broad.mit.edu	37	13	114325904	114325904	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325904G>A	ENST00000335678.6	+	3	1150	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCGGCCTGGAGCACCTGCACC	0.602																																						ENST00000335678.6																			0				ovary(2)	2						c.(916-918)gaG>gaA		G protein-coupled receptor kinase 1							32.0	36.0	34.0					13																	114325904		2085	4211	6296	SO:0001819	synonymous_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114325904G>A			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.918G>A	13.37:g.114325904G>A							p.E306E	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		3	1150	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	306			Protein kinase.		Q53X14	Silent	SNP	ENST00000335678.6	37	c.918G>A																																																																																					0.602	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		10	15	0	0	0	1	0	10	15				
IL3RA	3563	broad.mit.edu	37	X	1464255	1464255	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1464255G>A	ENST00000331035.4	+	3	460	c.111G>A	c.(109-111)caG>caA	p.Q37Q	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	37					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAAGGCTCAGCAGTTGACCT	0.423																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(109-111)caG>caA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)	G		0,4400		0,0,2200	291.0	277.0	282.0		111	1.3	0.0	X	dbSNP_134	282	1,8591		0,1,4295	no	coding-synonymous	IL3RA	NM_002183.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		37/379	1464255	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1464255G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.111G>A	X.37:g.1464255G>A						IL3RA_ENST00000381469.2_Intron	p.Q37Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			3	460	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	37					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.111G>A	CCDS14113.1																																																																																				0.423	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			45	89	0	0	0	1	0	45	89				
RBM15	64783	broad.mit.edu	37	1	110883957	110883957	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110883957C>A	ENST00000369784.3	+	1	2830	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	RBM15_ENST00000487146.2_Missense_Mutation_p.L644M|RBM15_ENST00000602849.1_Missense_Mutation_p.L644M|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	644	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAAGCGAAGGCTGCCTGAGGA	0.587			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1930-1932)Ctg>Atg		RNA binding motif protein 15							50.0	45.0	47.0					1																	110883957		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883957C>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1930C>A	1.37:g.110883957C>A	ENSP00000358799:p.Leu644Met					RBM15_ENST00000487146.2_Missense_Mutation_p.L644M|RBM15_ENST00000602849.1_Missense_Mutation_p.L644M	p.L644M	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2830	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	644			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.1930C>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397131	0.42512	.	.	ENSG00000162775	ENST00000369784	T	0.19105	2.17	4.77	3.86	0.44501	.	0.225617	0.22583	N	0.058194	T	0.19406	0.0466	L	0.47716	1.5	0.35911	D	0.831134	D;D	0.57899	0.981;0.968	P;P	0.57101	0.813;0.655	T	0.02047	-1.1223	10	0.33940	T	0.23	-0.1515	12.8254	0.57716	0.0:0.9208:0.0:0.0792	.	644;644	Q96T37-3;Q96T37	.;RBM15_HUMAN	M	644	ENSP00000358799:L644M	ENSP00000358799:L644M	L	+	1	2	RBM15	110685480	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.699000	0.25586	1.237000	0.43756	0.655000	0.94253	CTG		0.587	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		9	22	1	0	0.00448238	1	0.00472561	9	22				
WDR93	56964	broad.mit.edu	37	15	90278765	90278765	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90278765T>A	ENST00000268130.7	+	14	1690	c.1589T>A	c.(1588-1590)gTc>gAc	p.V530D	WDR93_ENST00000444934.2_Missense_Mutation_p.V247D|WDR93_ENST00000560294.1_Missense_Mutation_p.V502D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	530					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGGCCCCAGTCCCAGCCTTA	0.443																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(1588-1590)gTc>gAc		WD repeat domain 93							125.0	117.0	120.0					15																	90278765		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90278765T>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1589T>A	15.37:g.90278765T>A	ENSP00000268130:p.Val530Asp					WDR93_ENST00000444934.2_Missense_Mutation_p.V247D|WDR93_ENST00000560294.1_Missense_Mutation_p.V502D	p.V530D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		14	1690	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		530					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.1589T>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509878	0.27036	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.27256	1.68;2.38	5.47	4.34	0.51931	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.180729	0.37012	N	0.002293	T	0.46964	0.1420	M	0.73598	2.24	0.21878	N	0.999494	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.38286	-0.9668	10	0.87932	D	0	-19.5253	8.0448	0.30542	0.0:0.0928:0.0:0.9072	.	502;530	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	D	530;247	ENSP00000268130:V530D;ENSP00000403871:V247D	ENSP00000268130:V530D	V	+	2	0	WDR93	88079769	0.356000	0.24930	0.029000	0.17559	0.036000	0.12997	1.587000	0.36622	0.915000	0.36847	0.529000	0.55759	GTC		0.443	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		6	66	0	0	0	1	0	6	66				
DNAI2	64446	broad.mit.edu	37	17	72297261	72297261	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72297261T>G	ENST00000311014.6	+	8	1008	c.941T>G	c.(940-942)tTg>tGg	p.L314W	DNAI2_ENST00000446837.2_Missense_Mutation_p.L314W|DNAI2_ENST00000582036.1_Missense_Mutation_p.L314W|DNAI2_ENST00000579490.1_Missense_Mutation_p.L371W|DNAI2_ENST00000307504.5_Missense_Mutation_p.L171W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	314					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGGAACAGTTGGAAAATGCC	0.562									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1111-1113)tTg>tGg		dynein, axonemal, intermediate chain 2							215.0	189.0	198.0					17																	72297261		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72297261T>G	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.941T>G	17.37:g.72297261T>G	ENSP00000308312:p.Leu314Trp					DNAI2_ENST00000582036.1_Missense_Mutation_p.L314W|DNAI2_ENST00000446837.2_Missense_Mutation_p.L314W|DNAI2_ENST00000311014.6_Missense_Mutation_p.L314W|DNAI2_ENST00000307504.5_Missense_Mutation_p.L171W	p.L371W			Q9GZS0	DNAI2_HUMAN			7	1247	+			314					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1112T>G	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587650	0.46110	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.15952	2.38;2.38;2.38	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.136446	0.50627	D	0.000109	T	0.34978	0.0916	M	0.72894	2.215	0.40770	D	0.983088	D	0.67145	0.996	P	0.55785	0.784	T	0.11324	-1.0592	10	0.42905	T	0.14	-31.3261	15.7696	0.78157	0.0:0.0:0.0:1.0	.	314	Q9GZS0	DNAI2_HUMAN	W	314;171;314	ENSP00000308312:L314W;ENSP00000302929:L171W;ENSP00000400252:L314W	ENSP00000302929:L171W	L	+	2	0	DNAI2	69808856	1.000000	0.71417	0.887000	0.34795	0.272000	0.26649	3.934000	0.56553	2.123000	0.65237	0.529000	0.55759	TTG		0.562	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		55	81	0	0	0	1	0	55	81				
PKNOX1	5316	broad.mit.edu	37	21	44438312	44438312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44438312C>T	ENST00000291547.5	+	7	903	c.692C>T	c.(691-693)cCt>cTt	p.P231L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P114L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	231					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ACATTGTCGCCTGGGACAATT	0.542																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(691-693)cCt>cTt		PBX/knotted 1 homeobox 1							104.0	87.0	93.0					21																	44438312		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44438312C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.692C>T	21.37:g.44438312C>T	ENSP00000291547:p.Pro231Leu					PKNOX1_ENST00000432907.2_Missense_Mutation_p.P114L	p.P231L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			7	903	+			231					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.692C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136632	0.56936	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86769	-1.91;-2.17	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.64237	0.82;0.923	D	0.90045	0.4145	10	0.41790	T	0.15	.	12.8586	0.57901	0.1631:0.8369:0.0:0.0	.	231;231	P55347;P55347-2	PKNX1_HUMAN;.	L	231;114	ENSP00000291547:P231L;ENSP00000402243:P114L	ENSP00000291547:P231L	P	+	2	0	PKNOX1	43311381	1.000000	0.71417	0.197000	0.23402	0.275000	0.26752	5.210000	0.65214	2.259000	0.74868	0.462000	0.41574	CCT		0.542	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			3	41	0	0	0	1	0	3	41				
RRNAD1	51093	broad.mit.edu	37	1	156706423	156706423	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156706423G>T	ENST00000368216.4	+	8	1936		c.e8-1		MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000481920.1_Intron|RRNAD1_ENST00000368218.4_Splice_Site|RRNAD1_ENST00000476229.1_Splice_Site	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1							integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTTTCTCCCAGGTTTCCATGC	0.547																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.e8-1		ribosomal RNA adenine dimethylase domain containing 1							132.0	123.0	126.0					1																	156706423		2203	4300	6503	SO:0001630	splice_region_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156706423G>T	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1307-1G>T	1.37:g.156706423G>T						RRNAD1_ENST00000476229.1_Splice_Site|RRNAD1_ENST00000481920.1_Intron|RRNAD1_ENST00000368218.4_Splice_Site		NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			8	1936	+								D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Splice_Site	SNP	ENST00000368216.4	37		CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800356	0.16397	.	.	ENSG00000143303	ENST00000368218;ENST00000368216;ENST00000476229	.	.	.	5.87	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3062	0.32045	0.0786:0.0:0.766:0.1554	.	.	.	.	.	-1	.	.	.	+	.	.	RRNAD1	154973047	1.000000	0.71417	0.979000	0.43373	0.077000	0.17291	8.199000	0.89731	0.811000	0.34303	-0.181000	0.13052	.		0.547	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997	Intron	13	85	1	0	9.31168e-06	1	1.06029e-05	13	85				
MYBPC1	4604	broad.mit.edu	37	12	102041871	102041871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102041871G>A	ENST00000550270.1	+	12	1064	c.1064G>A	c.(1063-1065)tGt>tAt	p.C355Y	MYBPC1_ENST00000441232.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000392934.3_Missense_Mutation_p.C342Y|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.C341Y|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000536007.1_Missense_Mutation_p.C336Y|MYBPC1_ENST00000541119.1_Missense_Mutation_p.C343Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.C355Y|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.C368Y|MYBPC1_ENST00000553190.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000551300.1_Missense_Mutation_p.C256Y|MYBPC1_ENST00000361685.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.C329Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.C380Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	355	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTGCTTATTGTGGGGAGAGA	0.378																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(1102-1104)tGt>tAt		myosin binding protein C, slow type							176.0	163.0	167.0					12																	102041871		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102041871G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1064G>A	12.37:g.102041871G>A	ENSP00000449702:p.Cys355Tyr					MYBPC1_ENST00000551300.1_Missense_Mutation_p.C256Y|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000536007.1_Missense_Mutation_p.C336Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.C341Y|MYBPC1_ENST00000361685.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000392934.3_Missense_Mutation_p.C342Y|MYBPC1_ENST00000441232.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000553190.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.C329Y|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000541119.1_Missense_Mutation_p.C343Y|MYBPC1_ENST00000452455.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.C355Y	p.C368Y			Q00872	MYPC1_HUMAN			13	1203	+			355			Ig-like C2-type 3.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1103G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715366	0.68844	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.248894	0.28914	N	0.013721	T	0.65811	0.2727	L	0.29908	0.895	0.37934	D	0.932109	P;P;P;P;P;P;P;P;B;P;P	0.52316	0.916;0.952;0.699;0.916;0.916;0.916;0.897;0.916;0.378;0.897;0.897	P;P;B;P;P;P;P;P;B;P;P	0.56865	0.808;0.761;0.425;0.761;0.808;0.74;0.648;0.808;0.395;0.648;0.708	T	0.70880	-0.4752	10	0.87932	D	0	.	15.0493	0.71854	0.0:0.0:0.825:0.175	.	336;343;355;355;342;329;355;355;380;380;368	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	Y	329;355;355;355;342;341;380;368;355;380;355;336;343;380;256;355	ENSP00000448175:C329Y;ENSP00000400908:C355Y;ENSP00000388989:C355Y;ENSP00000353822:C355Y;ENSP00000376665:C342Y;ENSP00000447362:C341Y;ENSP00000354845:C380Y;ENSP00000447660:C368Y;ENSP00000447900:C355Y;ENSP00000440034:C355Y;ENSP00000446128:C336Y;ENSP00000442847:C343Y;ENSP00000354849:C380Y;ENSP00000447116:C256Y;ENSP00000449702:C355Y	ENSP00000353822:C355Y	C	+	2	0	MYBPC1	100566002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.149000	0.58091	2.832000	0.97577	0.655000	0.94253	TGT		0.378	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			11	77	0	0	0	1	0	11	77				
ARHGEF10L	55160	broad.mit.edu	37	1	17934328	17934328	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17934328G>A	ENST00000361221.3	+	7	624	c.465G>A	c.(463-465)gcG>gcA	p.A155A	ARHGEF10L_ENST00000452522.1_Silent_p.A155A|ARHGEF10L_ENST00000375415.1_Silent_p.A155A|ARHGEF10L_ENST00000434513.1_Silent_p.A155A|ARHGEF10L_ENST00000375420.3_5'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	155						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGAGGATGCGCACCGGGCTG	0.687																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(463-465)gcG>gcA		Rho guanine nucleotide exchange factor (GEF) 10-like							15.0	19.0	18.0					1																	17934328		2193	4279	6472	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17934328G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.465G>A	1.37:g.17934328G>A						ARHGEF10L_ENST00000452522.1_Silent_p.A155A|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.A155A|ARHGEF10L_ENST00000434513.1_Silent_p.A155A	p.A155A	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	7	624	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	155					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.465G>A	CCDS182.1																																																																																				0.687	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		6	10	0	0	0	1	0	6	10				
FAM129A	116496	broad.mit.edu	37	1	184772785	184772785	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184772785A>G	ENST00000367511.3	-	12	1681	c.1488T>C	c.(1486-1488)ttT>ttC	p.F496F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	496					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCCTCTTGAAATATCTTCT	0.398																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1486-1488)ttT>ttC		family with sequence similarity 129, member A							239.0	213.0	222.0					1																	184772785		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184772785A>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1488T>C	1.37:g.184772785A>G						FAM129A_ENST00000487074.1_5'UTR	p.F496F	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			12	1681	-			496					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.1488T>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478456	0.26511	.	.	ENSG00000135842	ENST00000417056	.	.	.	5.33	0.349	0.16032	.	.	.	.	.	T	0.51007	0.1649	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34502	-0.9826	4	.	.	.	-16.9161	5.4856	0.16747	0.5504:0.1392:0.3103:0.0	.	.	.	.	P	28	.	.	S	-	1	0	FAM129A	183039408	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.747000	0.38298	-0.183000	0.10585	0.533000	0.62120	TCA		0.398	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			5	109	0	0	0	1	0	5	109				
DSCAM	1826	broad.mit.edu	37	21	41385262	41385262	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41385262C>T	ENST00000400454.1	-	33	6215	c.5738G>A	c.(5737-5739)cGa>cAa	p.R1913Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1913				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACCACCTCGGTTTAACAA	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5737-5739)cGa>cAa		Down syndrome cell adhesion molecule							51.0	51.0	51.0					21																	41385262		1981	4141	6122	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385262C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5738G>A	21.37:g.41385262C>T	ENSP00000383303:p.Arg1913Gln						p.R1913Q	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6215	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1913	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5738G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.651772	0.88056	.	.	ENSG00000171587	ENST00000400454	T	0.61040	0.14	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	N	0.24115	0.695	0.51767	D	0.999932	D	0.64830	0.994	D	0.64042	0.921	T	0.68569	-0.5374	10	0.66056	D	0.02	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	1913	O60469	DSCAM_HUMAN	Q	1913	ENSP00000383303:R1913Q	ENSP00000383303:R1913Q	R	-	2	0	DSCAM	40307132	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	7.290000	0.78711	2.521000	0.84997	0.557000	0.71058	CGA		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		19	33	0	0	0	1	0	19	33				
KLHL24	54800	broad.mit.edu	37	3	183381373	183381373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183381373G>T	ENST00000454652.2	+	5	1434	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	KLHL24_ENST00000476808.1_Nonsense_Mutation_p.E350*|KLHL24_ENST00000242810.6_Nonsense_Mutation_p.E350*	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	350						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAAGCTTCCAGAATTTACCAA	0.393																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1048-1050)Gaa>Taa		kelch-like family member 24							133.0	124.0	127.0					3																	183381373		2203	4300	6503	SO:0001587	stop_gained	54800					axon|cytoplasm|perikaryon		g.chr3:183381373G>T		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1048G>T	3.37:g.183381373G>T	ENSP00000395012:p.Glu350*					KLHL24_ENST00000476808.1_Nonsense_Mutation_p.E350*|KLHL24_ENST00000242810.6_Nonsense_Mutation_p.E350*	p.E350*			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		5	1434	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		350					A5PLN8|Q9H620|Q9NXT9	Nonsense_Mutation	SNP	ENST00000454652.2	37	c.1048G>T	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	38	6.671028	0.97751	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.4149	0.94690	0.0:0.0:1.0:0.0	.	.	.	.	X	350	.	ENSP00000242810:E350X	E	+	1	0	KLHL24	184864067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.675000	0.91044	0.462000	0.41574	GAA		0.393	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		12	83	1	0	1.5842e-08	1	1.90059e-08	12	83				
RITA1	84934	broad.mit.edu	37	12	113629341	113629341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113629341G>A	ENST00000548278.1	+	4	1221	c.529G>A	c.(529-531)Gcg>Acg	p.A177T	C12orf52_ENST00000552495.1_Missense_Mutation_p.A201T|C12orf52_ENST00000549621.1_Missense_Mutation_p.A177T|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		177	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCCGGGGCCAGCGGCAGACTC	0.647																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(529-531)Gcg>Acg		chromosome 12 open reading frame 52							41.0	47.0	45.0					12																	113629341		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629341G>A																												ENST00000548278.1:c.529G>A	12.37:g.113629341G>A	ENSP00000449841:p.Ala177Thr					C12orf52_ENST00000552495.1_Missense_Mutation_p.A201T|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.A177T	p.A177T	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1221	+			177			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.529G>A	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	G	9.051	0.992194	0.18966	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813	T;T;T	0.32023	1.48;1.48;1.47	3.66	-1.56	0.08532	.	2.201380	0.01804	N	0.033064	T	0.22742	0.0549	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.07616	-1.0763	10	0.20519	T	0.43	0.4204	3.6881	0.08336	0.4015:0.0:0.4311:0.1673	.	201;177	F8VRG5;Q96K30	.;RITA_HUMAN	T	177;177;201;177;174	ENSP00000448289:A177T;ENSP00000449841:A177T;ENSP00000448680:A201T	ENSP00000266813:A174T	A	+	1	0	C12orf52	112113724	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.900000	0.04097	-0.341000	0.08376	-0.899000	0.02877	GCG		0.647	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			4	28	0	0	0	1	0	4	28				
FTL	2512	broad.mit.edu	37	19	49469891	49469891	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49469891A>G	ENST00000331825.6	+	4	634	c.427A>G	c.(427-429)Aag>Gag	p.K143E	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	143	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GAAGCTTATCAAGAAGATGGG	0.532																																						ENST00000331825.6																			0				cervix(1)|kidney(3)|lung(5)	9						c.(427-429)Aag>Gag		ferritin, light polypeptide	Iron Dextran(DB00893)						126.0	133.0	131.0					19																	49469891		2203	4300	6503	SO:0001583	missense	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49469891A>G	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.427A>G	19.37:g.49469891A>G	ENSP00000366525:p.Lys143Glu						p.K143E	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	4	634	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	143			Ferritin-like diiron.		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	37	c.427A>G	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759459	0.89932	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.71103	-0.54	4.46	4.46	0.54185	Ferritin/ribonucleotide reductase-like (1);Ferritin, conserved site (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.101916	0.64402	N	0.000003	D	0.83732	0.5318	M	0.87038	2.855	0.38700	D	0.952957	D	0.53462	0.96	D	0.64042	0.921	D	0.87595	0.2493	10	0.72032	D	0.01	.	12.021	0.53344	1.0:0.0:0.0:0.0	.	143	P02792	FRIL_HUMAN	E	143	ENSP00000366525:K143E	ENSP00000366525:K143E	K	+	1	0	FTL	54161703	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.431000	0.90285	2.011000	0.59026	0.460000	0.39030	AAG		0.532	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		10	190	0	0	0	1	0	10	190				
CD99L2	83692	broad.mit.edu	37	X	149963702	149963702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963702C>A	ENST00000370377.3	-	6	524	c.407G>T	c.(406-408)aGg>aTg	p.R136M	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R64M|CD99L2_ENST00000466436.1_Missense_Mutation_p.R87M|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	136					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AATTGGTTTCCTGCGGCCATC	0.478																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(406-408)aGg>aTg		CD99 molecule-like 2							159.0	160.0	160.0					X																	149963702		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149963702C>A	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.407G>T	X.37:g.149963702C>A	ENSP00000359403:p.Arg136Met					CD99L2_ENST00000355149.3_Missense_Mutation_p.R64M|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.R87M	p.R136M	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			6	524	-	Acute lymphoblastic leukemia(192;6.56e-05)		136					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.407G>T	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068749	0.36470	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.67	1.86	0.25419	.	1.060550	0.07275	N	0.869845	T	0.37865	0.1019	L	0.56769	1.78	0.09310	N	0.999994	P;D;P	0.54207	0.924;0.965;0.938	P;P;P	0.55161	0.562;0.66;0.77	T	0.17228	-1.0376	9	.	.	.	-10.0326	6.6846	0.23138	0.0:0.758:0.0:0.242	.	64;87;136	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	M	136;140;64;87;99	ENSP00000359403:R136M;ENSP00000347275:R64M;ENSP00000417697:R87M;ENSP00000391821:R99M	.	R	-	2	0	CD99L2	149714360	0.009000	0.17119	0.037000	0.18230	0.694000	0.40290	-0.274000	0.08537	0.360000	0.24265	0.513000	0.50165	AGG		0.478	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		10	190	1	0	3.86212e-05	1	4.30401e-05	10	190				
TRPM1	4308	broad.mit.edu	37	15	31334251	31334251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31334251C>T	ENST00000256552.6	-	17	2137	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	TRPM1_ENST00000542188.1_Missense_Mutation_p.A681T|TRPM1_ENST00000397795.2_Missense_Mutation_p.A642T|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCACCAGGGCCTTGGCCATG	0.562																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2041-2043)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 1							68.0	73.0	71.0					15																	31334251		2183	4294	6477	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334251C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1990G>A	15.37:g.31334251C>T	ENSP00000256552:p.Ala664Thr					RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.A664T|TRPM1_ENST00000397795.2_Missense_Mutation_p.A642T	p.A681T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	2354	-		all_lung(180;1.92e-11)	642						Missense_Mutation	SNP	ENST00000256552.6	37	c.2041G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334671	0.95758	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.70399	-0.48;-0.48;-0.48	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.86665	0.5987	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89877	0.4027	10	0.87932	D	0	-22.1303	17.5889	0.87989	0.0:1.0:0.0:0.0	.	636;642	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	T	642;681;664;642	ENSP00000380897:A642T;ENSP00000437849:A681T;ENSP00000256552:A664T	ENSP00000256552:A664T	A	-	1	0	TRPM1	29121543	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	7.743000	0.85020	2.193000	0.70182	0.655000	0.94253	GCC		0.562	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		18	29	0	0	0	1	0	18	29				
COPS7A	50813	broad.mit.edu	37	12	6833966	6833966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6833966C>T	ENST00000543155.1	+	2	626	c.144C>T	c.(142-144)gaC>gaT	p.D48D	COPS7A_ENST00000534877.1_Silent_p.D48D|COPS7A_ENST00000534947.1_Silent_p.D48D|COPS7A_ENST00000229251.3_Silent_p.D48D|COPS7A_ENST00000539735.1_Silent_p.D48D|COPS7A_ENST00000538410.1_Silent_p.D48D|COPS7A_ENST00000542150.1_Intron|RP4-761J14.9_ENST00000602759.1_RNA	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	48					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AACTGCTGGACATGCCCAATG	0.557																																						ENST00000543155.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(142-144)gaC>gaT		COP9 signalosome subunit 7A							117.0	108.0	111.0					12																	6833966		2203	4300	6503	SO:0001819	synonymous_variant	50813				cullin deneddylation	cytoplasm|signalosome		g.chr12:6833966C>T	AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A"", ""COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"""				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.144C>T	12.37:g.6833966C>T						COPS7A_ENST00000534947.1_Silent_p.D48D|COPS7A_ENST00000538410.1_Silent_p.D48D|COPS7A_ENST00000534877.1_Silent_p.D48D|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000539735.1_Silent_p.D48D|COPS7A_ENST00000229251.3_Silent_p.D48D	p.D48D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN			2	626	+			48					A8K9A6|Q9NVX3|Q9UJW4	Silent	SNP	ENST00000543155.1	37	c.144C>T	CCDS8558.1																																																																																				0.557	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1			14	23	0	0	0	1	0	14	23				
ALG5	29880	broad.mit.edu	37	13	37559765	37559765	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37559765G>T	ENST00000239891.3	-	6	626	c.560C>A	c.(559-561)cCt>cAt	p.P187H	ALG5_ENST00000443765.1_Splice_Site_p.P157H|ALG5_ENST00000496689.1_5'Flank|ALG5_ENST00000413537.2_Splice_Site_p.P187H	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	187					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TATACTCACAGGCCAAGGCTG	0.378																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.e6+1		ALG5, dolichyl-phosphate beta-glucosyltransferase							103.0	100.0	101.0					13																	37559765		2203	4300	6503	SO:0001630	splice_region_variant	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37559765G>T	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.561+1C>A	13.37:g.37559765G>T						ALG5_ENST00000443765.1_Splice_Site_p.P157_splice|ALG5_ENST00000413537.2_Splice_Site_p.P187_splice	p.P187_splice	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	6	626	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	187					B4DR37|Q5TBA6	Splice_Site	SNP	ENST00000239891.3	37	c.561_splice	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498510	0.64298	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	T;T;T	0.63255	-0.03;-0.03;-0.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.69169	0.3081	L	0.52126	1.63	0.80722	D	1	D;B	0.54601	0.967;0.107	P;B	0.52217	0.693;0.081	T	0.67432	-0.5672	10	0.44086	T	0.13	-11.0924	19.6841	0.95974	0.0:0.0:1.0:0.0	.	157;187	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	H	157;187;187	ENSP00000390533:P157H;ENSP00000239891:P187H;ENSP00000389647:P187H	ENSP00000239891:P187H	P	-	2	0	ALG5	36457765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.964000	0.87933	2.765000	0.95021	0.591000	0.81541	CCT		0.378	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338	Missense_Mutation	4	48	1	0	0.00024832	1	0.0002712	4	48				
SUMO3	6612	broad.mit.edu	37	21	46233927	46233927	+	Silent	SNP	C	C	T	rs11545092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46233927C>T	ENST00000397898.3	-	2	196	c.114G>A	c.(112-114)ccG>ccA	p.P38P	SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.P38P|SUMO3_ENST00000397893.3_Silent_p.P38P|SUMO3_ENST00000332859.6_Silent_p.P38P					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		GCTTGCTCAGCGGCGTGTGCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15959	0.0		0.001	False		,,,				2504	0.0					ENST00000332859.6																			0				prostate(1)	1						c.(112-114)ccG>ccA		small ubiquitin-like modifier 3		C		0,4406		0,0,2203	159.0	135.0	143.0		114	-10.6	0.0	21	dbSNP_120	143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SUMO3	NM_006936.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		38/104	46233927	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233927C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.114G>A	21.37:g.46233927C>T						SUMO3_ENST00000397898.3_Silent_p.P38P|SUMO3_ENST00000411651.2_Silent_p.P38P|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Silent_p.P38P	p.P38P	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	274	-			38		P -> S (in dbSNP:rs1051311).	Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.114G>A																																																																																					0.622	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			8	129	0	0	0	1	0	8	129				
MED9	55090	broad.mit.edu	37	17	17394698	17394698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17394698C>T	ENST00000268711.3	+	2	386	c.330C>T	c.(328-330)agC>agT	p.S110S		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	110						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCACCTGAGCCCCGAACAGC	0.577																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(328-330)agC>agT		mediator complex subunit 9							86.0	81.0	82.0					17																	17394698		2203	4300	6503	SO:0001819	synonymous_variant	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394698C>T	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.330C>T	17.37:g.17394698C>T							p.S110S	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	386	+			110						Silent	SNP	ENST00000268711.3	37	c.330C>T	CCDS11184.1																																																																																				0.577	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		33	53	0	0	0	1	0	33	53				
TMX3	54495	broad.mit.edu	37	18	66381119	66381119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66381119A>G	ENST00000299608.2	-	2	381	c.65T>C	c.(64-66)gTc>gCc	p.V22A	TMX3_ENST00000443099.2_Missense_Mutation_p.V22A|TMX3_ENST00000562706.1_Missense_Mutation_p.V22A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	22					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTACAGACGACCATATCAAG	0.284																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(64-66)gTc>gCc		thioredoxin-related transmembrane protein 3							40.0	36.0	37.0					18																	66381119		2195	4299	6494	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66381119A>G	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.65T>C	18.37:g.66381119A>G	ENSP00000299608:p.Val22Ala					TMX3_ENST00000562706.1_Missense_Mutation_p.V22A|TMX3_ENST00000443099.2_Missense_Mutation_p.V22A	p.V22A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			2	381	-			22					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.65T>C	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	A	1.417	-0.573817	0.03882	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.12465	2.9;2.88;2.68	4.74	2.9	0.33743	Thioredoxin-like fold (2);	0.665977	0.14774	N	0.299192	T	0.04952	0.0133	N	0.03294	-0.36	0.19575	N	0.999965	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40136	-0.9579	10	0.02654	T	1	.	10.0914	0.42449	0.1761:0.0:0.8239:0.0	.	22;22;22	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	A	22	ENSP00000299608:V22A;ENSP00000444954:V22A;ENSP00000402605:V22A	ENSP00000299608:V22A	V	-	2	0	TMX3	64532099	0.705000	0.27846	0.963000	0.40424	0.419000	0.31324	1.643000	0.37217	0.641000	0.30601	-0.242000	0.12053	GTC		0.284	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		7	9	0	0	0	1	0	7	9				
ITGA10	8515	broad.mit.edu	37	1	145533899	145533899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145533899G>T	ENST00000369304.3	+	13	1720	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q384H|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q372H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	515					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGACCCCAGAACAAGGAAA	0.532																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1543-1545)caG>caT		integrin, alpha 10							93.0	84.0	87.0					1																	145533899		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533899G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1545G>T	1.37:g.145533899G>T	ENSP00000358310:p.Gln515His					ITGA10_ENST00000538811.1_Missense_Mutation_p.Q384H|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q372H	p.Q515H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			13	1720	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		515					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1545G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846987	0.32606	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.11495	2.77;2.77;2.77	5.27	4.34	0.51931	.	0.264709	0.32935	N	0.005471	T	0.08492	0.0211	M	0.68593	2.085	0.39282	D	0.964574	B;B;P;B	0.50943	0.016;0.016;0.94;0.001	B;B;B;B	0.43360	0.015;0.015;0.417;0.004	T	0.03945	-1.0990	10	0.66056	D	0.02	.	12.8633	0.57926	0.0:0.0:0.8355:0.1645	.	481;384;372;515	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	H	515;481;372;384	ENSP00000358310:Q515H;ENSP00000439894:Q372H;ENSP00000440011:Q384H	ENSP00000358310:Q515H	Q	+	3	2	ITGA10	144245256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.827000	0.39102	1.193000	0.43086	0.655000	0.94253	CAG		0.532	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		16	34	1	0	3.45872e-05	1	3.88335e-05	16	34				
HGSNAT	138050	broad.mit.edu	37	8	43002131	43002131	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43002131G>T	ENST00000458501.2	+	2	243	c.243G>T	c.(241-243)caG>caT	p.Q81H	HGSNAT_ENST00000379644.4_Missense_Mutation_p.Q53H			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	81					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATGGATCAGGCTTTGCTAC	0.378																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(241-243)caG>caT		heparan-alpha-glucosaminide N-acetyltransferase							145.0	135.0	138.0					8																	43002131		1891	4114	6005	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43002131G>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.243G>T	8.37:g.43002131G>T	ENSP00000389524:p.Gln81His					HGSNAT_ENST00000379644.4_Missense_Mutation_p.Q53H	p.Q81H			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		2	243	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	81					B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.243G>T		.	.	.	.	.	.	.	.	.	.	G	12.22	1.871590	0.33069	.	.	ENSG00000165102	ENST00000458501;ENST00000332689;ENST00000379644	D;D	0.91996	-2.95;-2.95	5.42	2.69	0.31865	.	0.074306	0.53938	D	0.000042	D	0.91727	0.7384	L	0.52573	1.65	0.80722	D	1	D	0.63880	0.993	P	0.56042	0.79	D	0.89569	0.3812	10	0.87932	D	0	-15.3418	7.7364	0.28817	0.262:0.0:0.738:0.0	.	81	Q68CP4	HGNAT_HUMAN	H	81;53;53	ENSP00000389524:Q81H;ENSP00000368965:Q53H	ENSP00000327833:Q53H	Q	+	3	2	HGSNAT	43121288	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	0.706000	0.25690	0.283000	0.22279	-0.464000	0.05259	CAG		0.378	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		13	20	1	0	9.05144e-12	1	1.1316e-11	13	20				
MUM1L1	139221	broad.mit.edu	37	X	105450704	105450704	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105450704G>A	ENST00000357175.2	+	4	1928	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A427T|MUM1L1_ENST00000337685.2_Missense_Mutation_p.A427T	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	427	PWWP.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTGTTGAGGCAAACATGAA	0.338																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1279-1281)Gca>Aca		melanoma associated antigen (mutated) 1-like 1							42.0	37.0	38.0					X																	105450704		1826	4069	5895	SO:0001583	missense	139221							g.chrX:105450704G>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1279G>A	X.37:g.105450704G>A	ENSP00000349699:p.Ala427Thr					MUM1L1_ENST00000372552.1_Missense_Mutation_p.A427T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.A427T	p.A427T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	2064	+			427			PWWP.		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1279G>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678705	0.47886	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.68765	-0.35;-0.35;-0.35	4.31	1.41	0.22369	.	0.433924	0.19215	N	0.119829	T	0.57095	0.2030	L	0.55481	1.735	0.26171	N	0.979861	P	0.36909	0.573	B	0.36666	0.23	T	0.52616	-0.8552	10	0.72032	D	0.01	-27.5876	6.7231	0.23340	0.0:0.3637:0.4444:0.192	.	427	Q5H9M0	MUML1_HUMAN	T	427	ENSP00000349699:A427T;ENSP00000338641:A427T;ENSP00000361632:A427T	ENSP00000338641:A427T	A	+	1	0	MUM1L1	105337360	0.958000	0.32768	0.941000	0.38009	0.957000	0.61999	1.547000	0.36190	0.156000	0.19299	0.529000	0.55759	GCA		0.338	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		13	16	0	0	0	1	0	13	16				
MAP4K1	11184	broad.mit.edu	37	19	39108527	39108527	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39108527G>A	ENST00000591517.1	-	1	37	c.9C>T	c.(7-9)gtC>gtT	p.V3V	EIF3K_ENST00000593149.1_5'Flank|EIF3K_ENST00000592558.1_5'Flank|MAP4K1_ENST00000589130.1_Intron|MAP4K1_ENST00000396857.2_Silent_p.V3V|EIF3K_ENST00000248342.4_5'Flank|EIF3K_ENST00000588934.1_5'Flank|MAP4K1_ENST00000586296.1_Silent_p.V3V|EIF3K_ENST00000545173.2_5'Flank|EIF3K_ENST00000538434.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	3					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGTCCACGACGTCCATCC	0.642																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(7-9)gtC>gtT		mitogen-activated protein kinase kinase kinase kinase 1							51.0	54.0	53.0					19																	39108527		1922	4124	6046	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39108527G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.9C>T	19.37:g.39108527G>A						MAP4K1_ENST00000589130.1_Intron|MAP4K1_ENST00000586296.1_Silent_p.V3V|MAP4K1_ENST00000396857.2_Silent_p.V3V	p.V3V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	37	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		3						Silent	SNP	ENST00000591517.1	37	c.9C>T	CCDS59385.1																																																																																				0.642	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		26	38	0	0	0	1	0	26	38				
EGF	1950	broad.mit.edu	37	4	110920897	110920897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110920897G>A	ENST00000265171.5	+	21	3513	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	EGF_ENST00000509793.1_Missense_Mutation_p.R981H|EGF_ENST00000503392.1_Missense_Mutation_p.R982H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1023					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGGAACTGCGCCACGCTGGC	0.597																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3067-3069)cGc>cAc		epidermal growth factor	Sulindac(DB00605)						166.0	147.0	154.0					4																	110920897		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110920897G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3068G>A	4.37:g.110920897G>A	ENSP00000265171:p.Arg1023His					EGF_ENST00000503392.1_Missense_Mutation_p.R982H|EGF_ENST00000509793.1_Missense_Mutation_p.R981H	p.R1023H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	21	3513	+		Hepatocellular(203;0.0893)	1023					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.3068G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880875	0.33255	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.32272	1.46;1.46;1.46	4.93	4.09	0.47781	.	0.177939	0.49305	D	0.000148	T	0.17874	0.0429	N	0.24115	0.695	0.33669	D	0.610725	B;P;B	0.34546	0.327;0.456;0.214	B;B;B	0.27608	0.037;0.081;0.037	T	0.26018	-1.0115	10	0.44086	T	0.13	.	9.616	0.39692	0.0977:0.0:0.9023:0.0	.	982;981;1023	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	H	981;1023;982	ENSP00000424316:R981H;ENSP00000265171:R1023H;ENSP00000421384:R982H	ENSP00000265171:R1023H	R	+	2	0	EGF	111140346	1.000000	0.71417	0.843000	0.33291	0.506000	0.33950	2.765000	0.47621	1.198000	0.43158	0.655000	0.94253	CGC		0.597	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			8	109	0	0	0	1	0	8	109				
HEPH	9843	broad.mit.edu	37	X	65428014	65428014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:65428014C>T	ENST00000343002.2	+	14	3153	c.2489C>T	c.(2488-2490)gCc>gTc	p.A830V	HEPH_ENST00000374727.3_Missense_Mutation_p.A833V|HEPH_ENST00000441993.2_Missense_Mutation_p.A833V|HEPH_ENST00000336279.5_Missense_Mutation_p.A563V|HEPH_ENST00000519389.1_Missense_Mutation_p.A884V|HEPH_ENST00000419594.1_Missense_Mutation_p.A641V			Q9BQS7	HEPH_HUMAN	hephaestin	830	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.A830V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGAATAATGCCAGCCGCCCC	0.413																																						ENST00000519389.1																			1	Substitution - Missense(1)	p.A830V(1)	endometrium(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2650-2652)gCc>gTc		hephaestin							88.0	65.0	73.0					X																	65428014		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65428014C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2489C>T	X.37:g.65428014C>T	ENSP00000343939:p.Ala830Val					HEPH_ENST00000419594.1_Missense_Mutation_p.A641V|HEPH_ENST00000343002.2_Missense_Mutation_p.A830V|HEPH_ENST00000441993.2_Missense_Mutation_p.A833V|HEPH_ENST00000336279.5_Missense_Mutation_p.A563V|HEPH_ENST00000374727.3_Missense_Mutation_p.A833V	p.A884V			Q9BQS7	HEPH_HUMAN			15	2830	+			830			Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2651C>T		.	.	.	.	.	.	.	.	.	.	c	27.2	4.805898	0.90623	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41	4.83	4.83	0.62350	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.87617	2.895	0.46376	D	0.99901	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.995;0.999;0.942;0.999	D	0.98982	1.0805	10	0.62326	D	0.03	.	15.5444	0.76086	0.0:1.0:0.0:0.0	.	884;230;641;830	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	V	884;833;563;833;641;830;787	ENSP00000430620:A884V;ENSP00000363859:A833V;ENSP00000337418:A563V;ENSP00000411687:A833V;ENSP00000413211:A641V;ENSP00000343939:A830V;ENSP00000398078:A787V	ENSP00000337418:A563V	A	+	2	0	HEPH	65344739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.490000	0.73645	2.233000	0.73108	0.540000	0.68198	GCC		0.413	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		8	16	0	0	0	1	0	8	16				
ZFP14	57677	broad.mit.edu	37	19	36832369	36832369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36832369C>T	ENST00000270001.7	-	5	474	c.359G>A	c.(358-360)aGg>aAg	p.R120K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCAATCATTCCTAAAAATGGA	0.343																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(358-360)aGg>aAg		ZFP14 zinc finger protein							102.0	102.0	102.0					19																	36832369		2203	4299	6502	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832369C>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.359G>A	19.37:g.36832369C>T	ENSP00000270001:p.Arg120Lys						p.R120K	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	474	-	Esophageal squamous(110;0.162)		120					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.359G>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	4.188	0.033562	0.08101	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.06218	3.33	4.39	0.964	0.19655	.	0.444819	0.19335	N	0.116806	T	0.03520	0.0101	N	0.26042	0.785	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39418	-0.9615	10	0.30078	T	0.28	.	1.5189	0.02512	0.1711:0.4679:0.1665:0.1945	.	120;120	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	K	120	ENSP00000270001:R120K	ENSP00000270001:R120K	R	-	2	0	ZFP14	41524209	0.000000	0.05858	0.418000	0.26571	0.651000	0.38670	-1.093000	0.03362	0.462000	0.27095	0.549000	0.68633	AGG		0.343	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		46	115	0	0	0	1	0	46	115				
ETV1	2115	broad.mit.edu	37	7	13978856	13978856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:13978856A>G	ENST00000430479.1	-	7	918	c.251T>C	c.(250-252)cTg>cCg	p.L84P	ETV1_ENST00000399357.3_Missense_Mutation_p.L44P|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.L44P|ETV1_ENST00000343495.5_Missense_Mutation_p.L66P|ETV1_ENST00000420159.2_Missense_Mutation_p.L26P|ETV1_ENST00000405218.2_Missense_Mutation_p.L84P|ETV1_ENST00000405358.4_Missense_Mutation_p.L98P|ETV1_ENST00000405192.2_Missense_Mutation_p.L84P|ETV1_ENST00000403685.1_Missense_Mutation_p.L66P|ETV1_ENST00000242066.5_Missense_Mutation_p.L66P	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	84					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCAGTGGCAGGCCATGAAA	0.373			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(196-198)cTg>cCg		ets variant 1							86.0	77.0	79.0					7																	13978856		1838	4083	5921	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13978856A>G		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.251T>C	7.37:g.13978856A>G	ENSP00000405327:p.Leu84Pro					ETV1_ENST00000399357.3_Missense_Mutation_p.L44P|ETV1_ENST00000405192.2_Missense_Mutation_p.L84P|ETV1_ENST00000420159.2_Missense_Mutation_p.L26P|ETV1_ENST00000430479.1_Missense_Mutation_p.L84P|ETV1_ENST00000405358.4_Missense_Mutation_p.L98P|ETV1_ENST00000242066.5_Missense_Mutation_p.L66P|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.L44P|ETV1_ENST00000405218.2_Missense_Mutation_p.L84P|ETV1_ENST00000403685.1_Missense_Mutation_p.L66P	p.L66P			P50549	ETV1_HUMAN			6	935	-			84					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.197T>C	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199660	0.58126	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608;ENST00000421381;ENST00000431887	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.61	5.61	0.85477	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.221138	0.39083	N	0.001471	T	0.18467	0.0443	N	0.04994	-0.135	0.80722	D	1	D;B;D;D;D;D;B	0.76494	0.963;0.0;0.979;0.999;0.989;0.983;0.001	P;B;P;D;D;P;B	0.83275	0.674;0.002;0.773;0.996;0.921;0.899;0.006	T	0.06881	-1.0802	10	0.02654	T	1	.	15.8096	0.78547	1.0:0.0:0.0:0.0	.	95;66;98;26;44;44;84	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	P	84;66;66;26;44;84;98;44;84;66;26;44;84;84	ENSP00000405327:L84P;ENSP00000242066:L66P;ENSP00000340853:L66P;ENSP00000411626:L26P;ENSP00000382293:L44P;ENSP00000385381:L84P;ENSP00000384085:L98P;ENSP00000384138:L44P;ENSP00000385551:L84P;ENSP00000385686:L66P;ENSP00000393078:L26P;ENSP00000394710:L44P;ENSP00000391043:L84P;ENSP00000410819:L84P	ENSP00000242066:L66P	L	-	2	0	ETV1	13945381	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	8.779000	0.91792	2.132000	0.65825	0.533000	0.62120	CTG		0.373	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		5	89	0	0	0	1	0	5	89				
LYZL1	84569	broad.mit.edu	37	10	29599062	29599062	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29599062G>T	ENST00000375500.3	+	4	517	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	108					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TGACCTCACAGATGCAATTAT	0.428																																						ENST00000375500.3																			0				central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(460-462)Gat>Tat		lysozyme-like 1							161.0	141.0	147.0					10																	29599062		2203	4300	6503	SO:0001583	missense	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29599062G>T		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.460G>T	10.37:g.29599062G>T	ENSP00000364650:p.Asp154Tyr						p.D154Y	NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN			4	517	+		Breast(68;0.203)	108					Q5T921|Q8WW16	Missense_Mutation	SNP	ENST00000375500.3	37	c.460G>T	CCDS31174.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047991	0.55110	.	.	ENSG00000120563	ENST00000375500	T	0.71341	-0.56	4.63	4.63	0.57726	.	0.065701	0.64402	D	0.000020	D	0.82476	0.5045	M	0.76574	2.34	0.47374	D	0.999405	D	0.71674	0.998	D	0.74023	0.982	D	0.84585	0.0663	10	0.87932	D	0	-19.465	13.6995	0.62599	0.0:0.0:1.0:0.0	.	154	Q6UWQ5-2	.	Y	154	ENSP00000364650:D154Y	ENSP00000364650:D154Y	D	+	1	0	LYZL1	29639068	1.000000	0.71417	0.995000	0.50966	0.573000	0.36030	4.403000	0.59729	2.504000	0.84457	0.655000	0.94253	GAT		0.428	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		26	49	1	0	1.08312e-15	1	1.39118e-15	26	49				
COL6A3	1293	broad.mit.edu	37	2	238290034	238290034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238290034C>A	ENST00000295550.4	-	5	1873	c.1421G>T	c.(1420-1422)aGg>aTg	p.R474M	COL6A3_ENST00000346358.4_Missense_Mutation_p.R474M|COL6A3_ENST00000353578.4_Missense_Mutation_p.R268M|COL6A3_ENST00000392003.2_Missense_Mutation_p.R67M|COL6A3_ENST00000392004.3_Missense_Mutation_p.R268M|COL6A3_ENST00000409809.1_Missense_Mutation_p.R268M|COL6A3_ENST00000347401.3_Missense_Mutation_p.R273M|COL6A3_ENST00000472056.1_Missense_Mutation_p.R67M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	474	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTCCAGCCTCTGGATGAC	0.483																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1420-1422)aGg>aTg		collagen, type VI, alpha 3							59.0	60.0	60.0					2																	238290034		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238290034C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1421G>T	2.37:g.238290034C>A	ENSP00000295550:p.Arg474Met					COL6A3_ENST00000347401.3_Missense_Mutation_p.R273M|COL6A3_ENST00000353578.4_Missense_Mutation_p.R268M|COL6A3_ENST00000346358.4_Missense_Mutation_p.R474M|COL6A3_ENST00000392004.3_Missense_Mutation_p.R268M|COL6A3_ENST00000392003.2_Missense_Mutation_p.R67M|COL6A3_ENST00000409809.1_Missense_Mutation_p.R268M|COL6A3_ENST00000472056.1_Missense_Mutation_p.R67M	p.R474M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	1873	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	474			Nonhelical region.|VWFA 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1421G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121834	0.56613	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.31	3.21	0.36854	von Willebrand factor, type A (3);	0.212352	0.32416	N	0.006138	T	0.53302	0.1788	L	0.51853	1.615	0.19300	N	0.999974	B;D;D;D;D;B	0.76494	0.139;0.999;0.985;0.998;0.999;0.139	B;D;D;D;D;B	0.81914	0.054;0.995;0.95;0.976;0.982;0.054	T	0.35400	-0.9790	10	0.51188	T	0.08	.	8.966	0.35877	0.1486:0.7474:0.0:0.104	.	474;67;67;268;268;474	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	474;273;268;67;268;474;268;67;474	ENSP00000295550:R474M;ENSP00000315609:R273M;ENSP00000315873:R268M;ENSP00000418285:R67M;ENSP00000386844:R268M;ENSP00000295546:R474M;ENSP00000375861:R268M;ENSP00000375860:R67M;ENSP00000389539:R474M	ENSP00000295550:R474M	R	-	2	0	COL6A3	237954773	0.119000	0.22226	1.000000	0.80357	0.933000	0.57130	0.378000	0.20569	1.200000	0.43188	0.655000	0.94253	AGG		0.483	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	59	1	0	0.0215528	1	0.0221649	5	59				
GRM5	2915	broad.mit.edu	37	11	88242657	88242657	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242657G>A	ENST00000305447.4	-	9	2891	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	GRM5_ENST00000305432.5_Silent_p.S882S|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Silent_p.S882S|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Silent_p.S914S|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	914					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCCACGTGACGGATTTTCCAT	0.587																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2740-2742)tcC>tcT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						23.0	24.0	24.0					11																	88242657		2003	4018	6021	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242657G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2742C>T	11.37:g.88242657G>A						GRM5_ENST00000305447.4_Silent_p.S914S|GRM5_ENST00000305432.5_Silent_p.S882S|GRM5_ENST00000455756.2_Silent_p.S882S|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron	p.S914S			P41594	GRM5_HUMAN			10	3109	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	914					Q6J164	Silent	SNP	ENST00000305447.4	37	c.2742C>T	CCDS44694.1																																																																																				0.587	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		13	25	0	0	0	1	0	13	25				
CRTAC1	55118	broad.mit.edu	37	10	99655064	99655064	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99655064C>A	ENST00000370597.3	-	11	1779	c.1424G>T	c.(1423-1425)aGg>aTg	p.R475M	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R475M|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R475M	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	475						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCGATGATCCTCAGGTGGGC	0.622																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1423-1425)aGg>aTg		cartilage acidic protein 1							87.0	73.0	78.0					10																	99655064		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99655064C>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1424G>T	10.37:g.99655064C>A	ENSP00000359629:p.Arg475Met					CRTAC1_ENST00000370591.2_Missense_Mutation_p.R475M|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R475M	p.R475M	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	11	1779	-		Colorectal(252;0.24)	475					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1424G>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843560	0.91197	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.76839	1.18;-1.05;1.16;-0.22;-0.23	5.06	5.06	0.68205	ASPIC/UnbV (1);	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.93150	3.385	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.957;0.964;0.983	D	0.93419	0.6775	10	0.72032	D	0.01	-15.4659	18.0162	0.89241	0.0:1.0:0.0:0.0	.	475;475;371	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	M	371;475;475;467;475	ENSP00000408445:R371M;ENSP00000359629:R475M;ENSP00000298819:R475M;ENSP00000310810:R467M;ENSP00000359623:R475M	ENSP00000298819:R475M	R	-	2	0	CRTAC1	99645054	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.695000	0.84257	2.339000	0.79563	0.462000	0.41574	AGG		0.622	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		18	20	1	0	6.49762e-13	1	8.19883e-13	18	20				
DNM2	1785	broad.mit.edu	37	19	10939813	10939813	+	Silent	SNP	C	C	T	rs117598326	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10939813C>T	ENST00000355667.6	+	19	2240	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	DNM2_ENST00000408974.4_Silent_p.D716D|DNM2_ENST00000389253.4_Silent_p.D720D|DNM2_ENST00000585892.1_Silent_p.D720D|DNM2_ENST00000314646.5_Silent_p.D720D|DNM2_ENST00000359692.6_Silent_p.D716D	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	720	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCGGCGGGACGACATGCTGC	0.622			"""F, N, Splice, Mis, O"""		ETP ALL								C|||	10	0.00199681	0.0	0.0	5008	,	,		16078	0.0089		0.0	False		,,,				2504	0.001					ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2158-2160)gaC>gaT		dynamin 2		C	,,,,	2,4404	4.2+/-10.8	0,2,2201	52.0	38.0	43.0		2160,2160,2148,2160,2148	-2.0	1.0	19	dbSNP_132	43	11,8589	7.1+/-27.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNM2	NM_001005360.2,NM_001005361.2,NM_001005362.2,NM_001190716.1,NM_004945.3	,,,,	0,13,6490	TT,TC,CC		0.1279,0.0454,0.1	,,,,	720/871,720/871,716/867,720/870,716/867	10939813	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10939813C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2160C>T	19.37:g.10939813C>T						DNM2_ENST00000408974.4_Silent_p.D716D|DNM2_ENST00000359692.6_Silent_p.D716D|DNM2_ENST00000389253.4_Silent_p.D720D|DNM2_ENST00000585892.1_Silent_p.D720D|DNM2_ENST00000355667.6_Silent_p.D720D	p.D720D			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		19	2324	+			720			GED.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.2160C>T	CCDS45968.1																																																																																				0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		9	8	0	0	0	1	0	9	8				
TRHDE	29953	broad.mit.edu	37	12	72863578	72863578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863578G>T	ENST00000261180.4	+	4	1317	c.1221G>T	c.(1219-1221)gaG>gaT	p.E407D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	407	Substrate binding. {ECO:0000250}.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTATGGAGAACTGGGGAC	0.373																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1219-1221)gaG>gaT		thyrotropin-releasing hormone degrading enzyme							155.0	155.0	155.0					12																	72863578		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72863578G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1221G>T	12.37:g.72863578G>T	ENSP00000261180:p.Glu407Asp						p.E407D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			4	1317	+			407			Substrate binding (By similarity).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1221G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322345	0.81580	.	.	ENSG00000072657	ENST00000261180	T	0.16196	2.36	5.87	5.87	0.94306	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70565	-0.4837	10	0.87932	D	0	.	11.4746	0.50291	0.1383:0.0:0.8617:0.0	.	407	Q9UKU6	TRHDE_HUMAN	D	407	ENSP00000261180:E407D	ENSP00000261180:E407D	E	+	3	2	TRHDE	71149845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.839000	0.69395	2.785000	0.95823	0.650000	0.86243	GAG		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		33	68	1	0	3.62531e-18	1	4.72007e-18	33	68				
CAMKV	79012	broad.mit.edu	37	3	49896835	49896835	+	Silent	SNP	G	G	A	rs199584092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49896835G>A	ENST00000477224.1	-	11	1900	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	TRAIP_ENST00000331456.2_5'Flank|CAMKV_ENST00000498324.1_5'Flank|TRAIP_ENST00000473863.1_5'Flank|CAMKV_ENST00000488336.1_Silent_p.G443G|CAMKV_ENST00000466940.1_Silent_p.G400G|CAMKV_ENST00000467248.1_Silent_p.G399G|CAMKV_ENST00000463537.1_Missense_Mutation_p.A406V|TRAIP_ENST00000469027.1_5'Flank|CAMKV_ENST00000296471.7_Silent_p.G446G			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	474	Ala-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTGTGGCGCCCTCTGGGG	0.652																																						ENST00000463537.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(1216-1218)gCg>gTg		CaM kinase-like vesicle-associated							65.0	65.0	65.0					3																	49896835		2203	4300	6503	SO:0001819	synonymous_variant	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49896835G>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1422C>T	3.37:g.49896835G>A						CAMKV_ENST00000466940.1_Silent_p.G400G|CAMKV_ENST00000477224.1_Silent_p.G474G|CAMKV_ENST00000488336.1_Silent_p.G443G|CAMKV_ENST00000296471.7_Silent_p.G446G|CAMKV_ENST00000467248.1_Silent_p.G399G	p.A406V	NM_024046.3	NP_076951.2	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	11	1404	-			0			Ala-rich.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.1217C>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	8.129	0.782635	0.16189	.	.	ENSG00000164076	ENST00000463537	T	0.63913	-0.07	5.03	-1.55	0.08558	.	.	.	.	.	T	0.60051	0.2239	.	.	.	0.27630	N	0.948064	.	.	.	.	.	.	T	0.58725	-0.7586	6	0.62326	D	0.03	.	9.7048	0.40209	0.5444:0.0:0.4556:0.0	.	.	.	.	V	406	ENSP00000417614:A406V	ENSP00000417614:A406V	A	-	2	0	CAMKV	49871839	0.003000	0.15002	0.038000	0.18304	0.903000	0.53119	-0.271000	0.08572	-0.413000	0.07507	-0.767000	0.03436	GCG		0.652	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		22	47	0	0	0	1	0	22	47				
CILP2	148113	broad.mit.edu	37	19	19655297	19655297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19655297G>A	ENST00000291495.5	+	8	2028	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	CILP2_ENST00000586018.1_Missense_Mutation_p.R654H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	648						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCTCCGTGCGCCCGGC	0.721																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1960-1962)cGt>cAt		cartilage intermediate layer protein 2							23.0	26.0	25.0					19																	19655297		2184	4258	6442	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655297G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1943G>A	19.37:g.19655297G>A	ENSP00000291495:p.Arg648His					CILP2_ENST00000291495.4_Missense_Mutation_p.R648H	p.R654H			Q8IUL8	CILP2_HUMAN			8	2063	+			648					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1961G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473599	0.43942	.	.	ENSG00000160161	ENST00000291495	T	0.47177	0.85	4.67	2.48	0.30137	.	0.111534	0.64402	N	0.000014	T	0.33673	0.0871	L	0.33485	1.01	0.40058	D	0.975862	B;B	0.29301	0.13;0.241	B;B	0.26094	0.046;0.066	T	0.15492	-1.0435	10	0.59425	D	0.04	-11.3257	9.0247	0.36222	0.1869:0.0:0.8131:0.0	.	648;648	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	648	ENSP00000291495:R648H	ENSP00000291495:R648H	R	+	2	0	CILP2	19516297	0.522000	0.26266	0.503000	0.27626	0.833000	0.47200	1.693000	0.37742	0.392000	0.25172	0.555000	0.69702	CGT		0.721	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		3	28	0	0	0	1	0	3	28				
ARFGEF1	10565	broad.mit.edu	37	8	68107748	68107748	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68107748C>T	ENST00000262215.3	-	0	7225				ARFGEF1_ENST00000517955.1_5'Flank|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000262210.5_Nonsense_Mutation_p.Q1196*|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.Q851*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CATGGCAGAGCAGCTGAACCA	0.522																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(3586-3588)Cag>Tag		centrosome and spindle pole associated protein 1							84.0	85.0	85.0					8																	68107748		2000	4188	6188	SO:0001628	intergenic_variant	79848					centrosome|microtubule|spindle		g.chr8:68107748C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626		8.37:g.68107748C>T						ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.Q851*|CSPP1_ENST00000521168.1_3'UTR	p.Q1196*	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		29	3617	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1231					Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	c.3586C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	39	7.423502	0.98275	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.51	5.51	0.81932	.	0.317767	0.27473	N	0.019219	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.6885	19.3931	0.94592	0.0:1.0:0.0:0.0	.	.	.	.	X	1196;1231;851;851	.	ENSP00000262210:Q1196X	Q	+	1	0	CSPP1	68270302	0.796000	0.28864	0.995000	0.50966	0.987000	0.75469	2.465000	0.45075	2.747000	0.94245	0.650000	0.86243	CAG		0.522	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		39	62	0	0	0	1	0	39	62				
METTL6	131965	broad.mit.edu	37	3	15452855	15452855	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15452855G>T	ENST00000443029.1	-	6	1003	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	METTL6_ENST00000383790.3_Missense_Mutation_p.L255M|METTL6_ENST00000450816.2_Missense_Mutation_p.L210M			Q8TCB7	METL6_HUMAN	methyltransferase like 6	255							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GGCACACACAGGCCTTCTTTT	0.453																																						ENST00000443029.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						c.(763-765)Ctg>Atg		methyltransferase like 6							149.0	138.0	141.0					3																	15452855		1859	4098	5957	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15452855G>T	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.763C>A	3.37:g.15452855G>T	ENSP00000407613:p.Leu255Met					METTL6_ENST00000383790.3_Missense_Mutation_p.L255M|METTL6_ENST00000450816.2_Missense_Mutation_p.L210M	p.L255M			Q8TCB7	METL6_HUMAN			6	1003	-			255					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.763C>A	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846820	0.71603	.	.	ENSG00000206562	ENST00000383790;ENST00000450816	T;T	0.04603	3.59;3.59	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	M	0.86651	2.83	0.80722	D	1	D;P	0.59767	0.986;0.81	D;P	0.64237	0.923;0.492	T	0.00664	-1.1620	10	0.48119	T	0.1	-8.7787	9.4023	0.38440	0.2063:0.0:0.7937:0.0	.	210;255	B4DDX3;Q8TCB7	.;METL6_HUMAN	M	255;210	ENSP00000373300:L255M;ENSP00000410726:L210M	ENSP00000373300:L255M	L	-	1	2	METTL6	15427859	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.888000	0.63164	1.311000	0.45024	-0.266000	0.10368	CTG		0.453	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		6	76	1	0	2.0095e-06	1	2.31757e-06	6	76				
FSD1	79187	broad.mit.edu	37	19	4310514	4310514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4310514G>T	ENST00000221856.6	+	6	558	c.411G>T	c.(409-411)aaG>aaT	p.K137N	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.K137N	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	137	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAAGCGAAGGTCAGTGACA	0.607																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(409-411)aaG>aaT		fibronectin type III and SPRY domain containing 1							82.0	72.0	76.0					19																	4310514		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4310514G>T	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.411G>T	19.37:g.4310514G>T	ENSP00000221856:p.Lys137Asn					FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.K137N	p.K137N	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	6	558	+			137			COS.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.411G>T	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001846	0.35320	.	.	ENSG00000105255	ENST00000221856	T	0.46451	0.87	5.23	4.19	0.49359	COS domain (1);	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	M	0.63843	1.955	0.53005	D	0.999968	D;P	0.89917	1.0;0.462	D;B	0.79108	0.992;0.197	T	0.52793	-0.8528	10	0.32370	T	0.25	.	8.3679	0.32397	0.1809:0.0:0.8191:0.0	.	124;137	B4DIC5;Q9BTV5	.;FSD1_HUMAN	N	137	ENSP00000221856:K137N	ENSP00000221856:K137N	K	+	3	2	FSD1	4261514	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.927000	0.40094	1.209000	0.43321	0.511000	0.50034	AAG		0.607	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		4	71	1	0	0.00024832	1	0.0002712	4	71				
DNTTIP1	116092	broad.mit.edu	37	20	44430695	44430695	+	Splice_Site	SNP	G	G	A	rs147664923		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44430695G>A	ENST00000372622.3	+	7	624	c.556G>A	c.(556-558)Gta>Ata	p.V186I		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	186						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCCGGCATGGTGTGAGTAGG	0.577																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.e7+1		deoxynucleotidyltransferase, terminal, interacting protein 1							61.0	63.0	62.0					20																	44430695		2203	4300	6503	SO:0001630	splice_region_variant	116092					nucleus		g.chr20:44430695G>A	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.557+1G>A	20.37:g.44430695G>A							p.V186_splice	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			7	624	+		Myeloproliferative disorder(115;0.0122)	186					B2RA18|Q96DE3|Q9BQP2|Q9H148	Splice_Site	SNP	ENST00000372622.3	37	c.557_splice	CCDS13369.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.12|17.12|17.12	3.307164|3.307164|3.307164	0.60305|0.60305|0.60305	.|.|.	.|.|.	ENSG00000101457|ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000372622|ENST00000435014	.|T|.	.|0.46063|.	.|0.88|.	5.53|5.53|5.53	5.53|5.53|5.53	0.82687|0.82687|0.82687	.|.|.	.|0.382436|.	.|0.27429|.	.|N|.	.|0.019407|.	T|T|.	0.53738|0.53738|.	0.1815|0.1815|.	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.32298|0.32298|0.32298	N|N|N	0.565389|0.565389|0.565389	.|P|.	.|0.34587|.	.|0.458|.	.|B|.	.|0.35039|.	.|0.194|.	T|T|.	0.57487|0.57487|.	-0.7803|-0.7803|.	5|10|.	.|0.32370|.	.|T|.	.|0.25|.	-9.5698|-9.5698|-9.5698	16.3142|16.3142|16.3142	0.82909|0.82909|0.82909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|186|.	.|Q9H147|.	.|TDIF1_HUMAN|.	D|I|X	136|186|112	.|ENSP00000361705:V186I|.	.|ENSP00000361705:V186I|.	G|V|W	+|+|+	2|1|3	0|0|0	DNTTIP1|DNTTIP1|DNTTIP1	43864102|43864102|43864102	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	4.069000|4.069000|4.069000	0.57541|0.57541|0.57541	2.882000|2.882000|2.882000	0.98803|0.98803|0.98803	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGT|GTA|TGG		0.577	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	Missense_Mutation	20	37	0	0	0	1	0	20	37				
CUL4B	8450	broad.mit.edu	37	X	119678008	119678008	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119678008G>A	ENST00000404115.3	-	9	1589	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	snoU13_ENST00000605987.1_RNA|CUL4B_ENST00000371322.5_Silent_p.L378L|CUL4B_ENST00000336592.6_Silent_p.L383L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	396					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGCATAGAGCCGGTTAG	0.333																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1132-1134)ctC>ctT		cullin 4B							84.0	69.0	74.0					X																	119678008		2202	4300	6502	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119678008G>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1188C>T	X.37:g.119678008G>A						CUL4B_ENST00000404115.3_Silent_p.L396L|CUL4B_ENST00000336592.6_Silent_p.L383L	p.L378L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			7	1195	-			396					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.1134C>T	CCDS35379.1																																																																																				0.333	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		20	40	0	0	0	1	0	20	40				
ITGAE	3682	broad.mit.edu	37	17	3643130	3643130	+	Missense_Mutation	SNP	C	C	T	rs369593910		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3643130C>T	ENST00000263087.4	-	20	2589	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	ITGAE_ENST00000571185.1_5'Flank	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	831					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGTAATTCTGCGACACAAAAC	0.552																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2491-2493)Gca>Aca		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							192.0	152.0	166.0					17																	3643130		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3643130C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2491G>A	17.37:g.3643130C>T	ENSP00000263087:p.Ala831Thr						p.A831T	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	20	2589	-			831					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2491G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844828	0.32606	.	.	ENSG00000083457	ENST00000263087	T	0.48836	0.8	4.71	3.64	0.41730	Integrin alpha-2 (1);	.	.	.	.	T	0.63988	0.2558	M	0.73598	2.24	0.09310	N	1	D	0.89917	1.0	D	0.69654	0.965	T	0.50972	-0.8764	9	0.36615	T	0.2	.	10.1378	0.42717	0.0:0.7965:0.2035:0.0	.	831	P38570	ITAE_HUMAN	T	831	ENSP00000263087:A831T	ENSP00000263087:A831T	A	-	1	0	ITGAE	3589879	0.422000	0.25473	0.137000	0.22149	0.209000	0.24338	1.376000	0.34306	2.555000	0.86185	0.485000	0.47835	GCA		0.552	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		18	32	0	0	0	1	0	18	32				
TRAV26-1	28657	broad.mit.edu	37	14	22592047	22592047	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22592047C>A	ENST00000390455.3	+	0	341									T cell receptor alpha variable 26-1																		ACTCTACCATCAGTGGAAATG	0.453																																						ENST00000390455.3																			0																				100.0	104.0	103.0					14																	22592047		2029	4198	6227			0							g.chr14:22592047C>A	AE000660		14q11.2	2012-02-07			ENSG00000211807	ENSG00000211807		"""T cell receptors / TRA locus"""	12123	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170654		14.37:g.22592047C>A														0	341	+									RNA	SNP	ENST00000390455.3	37																																																																																						0.453	TRAV26-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409902.1	NG_001332		37	62	1	0	1.90571e-15	1	2.44502e-15	37	62				
DCLRE1B	64858	broad.mit.edu	37	1	114448282	114448282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114448282G>A	ENST00000369563.3	+	1	520	c.74G>A	c.(73-75)cGt>cAt	p.R25H	AP4B1_ENST00000256658.4_5'Flank|AP4B1_ENST00000369569.1_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	25					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACCGCACGTCTCTTCTTC	0.627								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(73-75)cGt>cAt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							76.0	77.0	77.0					1																	114448282		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114448282G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.74G>A	1.37:g.114448282G>A	ENSP00000358576:p.Arg25His					DCLRE1B_ENST00000466480.1_3'UTR	p.R25H	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	520	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	25					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.74G>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519581	0.96416	.	.	ENSG00000118655	ENST00000369563	T	0.74947	-0.89	5.28	5.28	0.74379	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.84597	0.5507	M	0.78285	2.405	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.85919	0.1445	10	0.62326	D	0.03	-17.5568	18.552	0.91068	0.0:0.0:1.0:0.0	.	25	Q9H816	DCR1B_HUMAN	H	25	ENSP00000358576:R25H	ENSP00000358576:R25H	R	+	2	0	DCLRE1B	114249805	1.000000	0.71417	0.894000	0.35097	0.670000	0.39368	7.703000	0.84585	2.468000	0.83385	0.561000	0.74099	CGT		0.627	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		25	54	0	0	0	1	0	25	54				
GSTZ1	2954	broad.mit.edu	37	14	77793211	77793211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77793211C>T	ENST00000556627.1	+	3	229	c.98C>T	c.(97-99)aCg>aTg	p.T33M	GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000554279.1_Missense_Mutation_p.T33M|GSTZ1_ENST00000216465.5_Missense_Mutation_p.T33M|GSTZ1_ENST00000557639.1_5'UTR|GSTZ1_ENST00000553586.1_Missense_Mutation_p.T34M|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000349555.3_Missense_Mutation_p.T33M|GSTZ1_ENST00000393734.1_5'UTR			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	33	GST N-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GACTACGAGACGGTGCCCATC	0.547																																						ENST00000216465.5																			0				lung(2)|prostate(1)	3						c.(97-99)aCg>aTg		glutathione S-transferase zeta 1	Glutathione(DB00143)						48.0	38.0	41.0					14																	77793211		2203	4300	6503	SO:0001583	missense	2954				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	g.chr14:77793211C>T	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.98C>T	14.37:g.77793211C>T	ENSP00000450487:p.Thr33Met					GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000557639.1_5'UTR|GSTZ1_ENST00000556627.1_Missense_Mutation_p.T33M|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000553586.1_Missense_Mutation_p.T34M|GSTZ1_ENST00000349555.3_Missense_Mutation_p.T33M|GSTZ1_ENST00000554279.1_Missense_Mutation_p.T33M	p.T33M	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	383	+			33			GST N-terminal.		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000556627.1	37	c.98C>T		.	.	.	.	.	.	.	.	.	.	C	6.018	0.371770	0.11409	.	.	ENSG00000100577	ENST00000216465;ENST00000554279;ENST00000349555;ENST00000556627;ENST00000553586	T;T;T;T;T	0.26373	1.74;2.52;1.74;1.74;1.74	5.57	0.0153	0.14103	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.461885	0.24132	N	0.041251	T	0.17916	0.0430	L	0.37850	1.14	0.23168	N	0.998181	B;B	0.19200	0.034;0.031	B;B	0.19391	0.025;0.022	T	0.20739	-1.0266	10	0.33141	T	0.24	-5.0218	10.1659	0.42879	0.0:0.5951:0.0:0.4049	.	33;33	A6NED0;O43708	.;MAAI_HUMAN	M	33;33;33;33;34	ENSP00000216465:T33M;ENSP00000452498:T33M;ENSP00000314404:T33M;ENSP00000450487:T33M;ENSP00000451976:T34M	ENSP00000216465:T33M	T	+	2	0	GSTZ1	76862964	0.007000	0.16637	0.119000	0.21687	0.219000	0.24729	0.004000	0.13106	0.054000	0.16065	-0.880000	0.02959	ACG		0.547	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1	NM_145870		4	11	0	0	0	1	0	4	11				
SNHG14	104472715	broad.mit.edu	37	15	25463599	25463599	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25463599C>T	ENST00000424208.1	+	0	2882				SNORD115-25_ENST00000362619.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGTGAGACTTCTGTTGGGCTT	0.597																																						ENST00000424208.1																			0																																																			0							g.chr15:25463599C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463599C>T						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	2882	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.597	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	6	0	0	0	1	0	7	6				
CDC23	8697	broad.mit.edu	37	5	137548861	137548861	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137548861G>A	ENST00000394886.2	-	1	171	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CDC23_ENST00000505120.1_Silent_p.G47G|CDC23_ENST00000394884.3_Silent_p.G47G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGTAGTAGGCCCCGCTCCC	0.552																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(139-141)ggC>ggT		cell division cycle 23							94.0	103.0	100.0					5																	137548861		2203	4300	6503	SO:0001819	synonymous_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548861G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.141C>T	5.37:g.137548861G>A						CDC23_ENST00000394884.3_Silent_p.G47G|CDC23_ENST00000505120.1_Silent_p.G47G	p.G47G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	171	-			47					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	c.141C>T	CCDS4200.2																																																																																				0.552	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			36	73	0	0	0	1	0	36	73				
ASAH2	56624	broad.mit.edu	37	10	52008258	52008258	+	Missense_Mutation	SNP	A	A	G	rs114108618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52008258A>G	ENST00000395526.4	-	1	112	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ASAH2_ENST00000329428.6_Missense_Mutation_p.I19T|ASAH2_ENST00000447815.1_Missense_Mutation_p.I38T	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	38					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						GTGGTTTTCAATGGTCCCACT	0.433													A|||	5	0.000998403	0.0	0.0	5008	,	,		20782	0.004		0.001	False		,,,				2504	0.0					ENST00000395526.3																			0				large_intestine(1)|lung(9)|urinary_tract(1)	11						c.(112-114)aTt>aCt		N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2		A	THR/ILE,THR/ILE	1,4405	2.1+/-5.4	0,1,2202	132.0	124.0	126.0		113,113	3.6	1.0	10	dbSNP_132	126	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ASAH2	NM_001143974.1,NM_019893.2	89,89	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	benign,benign	38/746,38/781	52008258	3,13003	2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52008258A>G	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.113T>C	10.37:g.52008258A>G	ENSP00000378897:p.Ile38Thr					ASAH2_ENST00000447815.1_Missense_Mutation_p.I38T|ASAH2_ENST00000329428.6_Missense_Mutation_p.I19T	p.I38T	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN			1	112	-			38					Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.113T>C	CCDS7239.2	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	A	1.548	-0.540042	0.04053	2.27E-4	2.33E-4	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.31510	1.49;1.5;1.5	5.94	3.58	0.41010	.	0.970566	0.08474	N	0.940522	T	0.14787	0.0357	L	0.27053	0.805	0.80722	D	1	B;B	0.13594	0.008;0.0	B;B	0.12156	0.007;0.0	T	0.09207	-1.0685	10	0.25751	T	0.34	.	5.5018	0.16833	0.7532:0.0:0.2468:0.0	.	38;38	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	T	38;38;19	ENSP00000378897:I38T;ENSP00000388206:I38T;ENSP00000329886:I19T	ENSP00000329886:I19T	I	-	2	0	ASAH2	51678264	0.656000	0.27385	0.998000	0.56505	0.963000	0.63663	0.643000	0.24750	1.048000	0.40298	0.460000	0.39030	ATT		0.433	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		4	39	0	0	0	1	0	4	39				
BFSP1	631	broad.mit.edu	37	20	17474837	17474837	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17474837G>T	ENST00000377873.3	-	8	1919	c.1880C>A	c.(1879-1881)tCt>tAt	p.S627Y	BFSP1_ENST00000536626.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000544874.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S502Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	627	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTTCTCGATAGATTCCACCAC	0.483																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1879-1881)tCt>tAt		beaded filament structural protein 1, filensin							126.0	130.0	129.0					20																	17474837		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17474837G>T	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1880C>A	20.37:g.17474837G>T	ENSP00000367104:p.Ser627Tyr					BFSP1_ENST00000544874.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S502Y	p.S627Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1919	-			627			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1880C>A	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685165	0.68157	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.79311	0.4424	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82206	-0.0572	10	0.87932	D	0	-17.0296	16.941	0.86218	0.0:0.0:1.0:0.0	.	502;627	Q12934-2;Q12934	.;BFSP1_HUMAN	Y	627;502;488;488	ENSP00000367104:S627Y;ENSP00000367099:S502Y;ENSP00000442522:S488Y;ENSP00000439870:S488Y	ENSP00000367099:S502Y	S	-	2	0	BFSP1	17422837	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	8.745000	0.91600	2.326000	0.78906	0.655000	0.94253	TCT		0.483	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		52	90	1	0	2.69774e-35	1	3.62969e-35	52	90				
KIAA1804	84451	broad.mit.edu	37	1	233518142	233518142	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233518142A>G	ENST00000366624.3	+	10	3057	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S	MLK4_ENST00000366622.1_Silent_p.S378S	NM_032435.2	NP_115811.2																					GGGAGGTCTCACCCAAGAAGC	0.592																																						ENST00000366624.3																			0											c.(2794-2796)tcA>tcG									105.0	93.0	97.0					1																	233518142		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233518142A>G																												ENST00000366624.3:c.2796A>G	1.37:g.233518142A>G						MLK4_ENST00000366622.1_Silent_p.S378S	p.S932S	NM_032435.2	NP_115811.2					10	3057	+									Silent	SNP	ENST00000366624.3	37	c.2796A>G	CCDS1598.1																																																																																				0.592	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			11	49	0	0	0	1	0	11	49				
CAMK1D	57118	broad.mit.edu	37	10	12803078	12803078	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12803078A>G	ENST00000378847.3	+	4	768	c.431A>G	c.(430-432)gAc>gGc	p.D144G	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D144G	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCCACAGAGACCTCAAGGTG	0.587																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(430-432)gAc>gGc		calcium/calmodulin-dependent protein kinase ID							63.0	50.0	54.0					10																	12803078		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12803078A>G	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.431A>G	10.37:g.12803078A>G	ENSP00000368124:p.Asp144Gly					CAMK1D_ENST00000378845.1_Missense_Mutation_p.D144G	p.D144G	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	4	768	+			144			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.431A>G	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.963450	0.92791	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	D;D	0.93019	-3.15;-3.15	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.092428	0.64402	D	0.000001	D	0.98131	0.9383	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99601	1.0978	10	0.87932	D	0	-35.456	15.1568	0.72749	1.0:0.0:0.0:0.0	.	144;144	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	G	144	ENSP00000368124:D144G;ENSP00000368122:D144G	ENSP00000368122:D144G	D	+	2	0	CAMK1D	12843084	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.168000	0.68352	0.533000	0.62120	GAC		0.587	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		5	12	0	0	0	1	0	5	12				
TPM4	7171	broad.mit.edu	37	19	16192856	16192856	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16192856G>A	ENST00000300933.4	+	2	526	c.266G>A	c.(265-267)aGa>aAa	p.R89K	TPM4_ENST00000538887.1_Splice_Site_p.R125K|TPM4_ENST00000344824.6_Splice_Site_p.R125K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	89					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAGAGTGAGAGGTAAGGACGC	0.537			T	ALK	ALCL																																	ENST00000300933.4				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.e2+1		tropomyosin 4							63.0	50.0	55.0					19																	16192856		2203	4300	6503	SO:0001630	splice_region_variant	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16192856G>A		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.266+1G>A	19.37:g.16192856G>A						TPM4_ENST00000538887.1_Splice_Site_p.R125_splice|TPM4_ENST00000344824.6_Splice_Site_p.R125_splice	p.R89_splice	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN			2	526	+			89					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Splice_Site	SNP	ENST00000300933.4	37	c.266_splice	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144452	0.94603	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	D;D;D	0.98150	-4.75;-4.75;-4.75	4.59	4.59	0.56863	.	0.000000	0.64402	U	0.000008	D	0.99223	0.9730	H	0.97415	4	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.91635	0.982;0.999	D	0.98810	1.0743	10	0.87932	D	0	-7.1043	16.822	0.85748	0.0:0.0:1.0:0.0	.	89;125	P67936;P67936-2	TPM4_HUMAN;.	K	125;125;89	ENSP00000345230:R125K;ENSP00000439135:R125K;ENSP00000300933:R89K	ENSP00000300933:R89K	R	+	2	0	TPM4	16053856	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	9.484000	0.97940	2.261000	0.74972	0.585000	0.79938	AGA		0.537	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290	Missense_Mutation	13	6	0	0	0	1	0	13	6				
MYLK2	85366	broad.mit.edu	37	20	30414481	30414481	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30414481T>C	ENST00000375994.2	+	6	1319	c.1046T>C	c.(1045-1047)aTc>aCc	p.I349T	MYLK2_ENST00000375985.4_Missense_Mutation_p.I349T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATGCAGCCATCGAGACTCCG	0.577																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1045-1047)aTc>aCc		myosin light chain kinase 2							124.0	98.0	107.0					20																	30414481		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30414481T>C	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1046T>C	20.37:g.30414481T>C	ENSP00000365162:p.Ile349Thr					MYLK2_ENST00000375985.4_Missense_Mutation_p.I349T	p.I349T			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		6	1319	+			349			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1046T>C	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.838312	0.32513	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.39997	1.05;1.05	3.55	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.39655	0.1086	L	0.42686	1.345	0.34637	D	0.720197	P	0.45212	0.853	P	0.44422	0.449	T	0.58115	-0.7693	9	0.87932	D	0	.	11.4817	0.50328	0.0:0.0:0.0:1.0	.	349	Q9H1R3	MYLK2_HUMAN	T	349	ENSP00000365162:I349T;ENSP00000365152:I349T	ENSP00000365152:I349T	I	+	2	0	MYLK2	29878142	0.995000	0.38212	0.941000	0.38009	0.497000	0.33675	2.433000	0.44793	1.485000	0.48380	0.358000	0.22013	ATC		0.577	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		5	42	0	0	0	1	0	5	42				
CHRD	8646	broad.mit.edu	37	3	184099582	184099582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184099582G>A	ENST00000204604.1	+	5	836	c.590G>A	c.(589-591)cGc>cAc	p.R197H	CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000450923.1_Missense_Mutation_p.R197H|CHRD_ENST00000348986.3_Missense_Mutation_p.R197H|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	197	CHRD 1. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTAGCCTCCGCTTCTCTATC	0.672																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(589-591)cGc>cAc		chordin							14.0	17.0	16.0					3																	184099582		2197	4296	6493	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099582G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.590G>A	3.37:g.184099582G>A	ENSP00000204604:p.Arg197His					EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R197H|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Missense_Mutation_p.R197H	p.R197H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	836	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		197			CHRD 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.590G>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	7.392	0.630888	0.14322	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.37235	1.21;1.21;1.21	5.39	4.51	0.55191	CHRD (3);	0.258860	0.40385	N	0.001104	T	0.12774	0.0310	N	0.04355	-0.22	0.80722	D	1	B;B	0.32409	0.015;0.37	B;B	0.24848	0.005;0.056	T	0.10245	-1.0638	10	0.08599	T	0.76	-21.9851	7.3044	0.26438	0.0863:0.0:0.7475:0.1662	.	197;197	E7ESX1;Q9H2X0	.;CHRD_HUMAN	H	197	ENSP00000204604:R197H;ENSP00000408972:R197H;ENSP00000334036:R197H	ENSP00000204604:R197H	R	+	2	0	CHRD	185582276	0.990000	0.36364	0.996000	0.52242	0.991000	0.79684	1.884000	0.39668	1.250000	0.43966	0.561000	0.74099	CGC		0.672	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		9	9	0	0	0	1	0	9	9				
ORC2	4999	broad.mit.edu	37	2	201800547	201800547	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201800547C>T	ENST00000234296.2	-	9	832	c.583G>A	c.(583-585)Gca>Aca	p.A195T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	195					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TGTTCCTGTGCAACCCCTTCA	0.428																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(583-585)Gca>Aca		origin recognition complex, subunit 2							140.0	131.0	134.0					2																	201800547		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201800547C>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.583G>A	2.37:g.201800547C>T	ENSP00000234296:p.Ala195Thr						p.A195T	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			9	832	-			195					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.583G>A	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	9.845	1.192073	0.21954	.	.	ENSG00000115942	ENST00000234296	T	0.30714	1.52	5.24	0.11	0.14611	.	0.601453	0.17628	N	0.167482	T	0.12944	0.0314	N	0.16478	0.41	0.09310	N	0.999998	B;B	0.14438	0.01;0.002	B;B	0.10450	0.005;0.002	T	0.23297	-1.0192	10	0.14252	T	0.57	-2.1703	3.1248	0.06403	0.1875:0.398:0.0:0.4145	.	195;195	B4DYU9;Q13416	.;ORC2_HUMAN	T	195	ENSP00000234296:A195T	ENSP00000234296:A195T	A	-	1	0	ORC2	201508792	0.005000	0.15991	0.210000	0.23637	0.992000	0.81027	-0.241000	0.08940	0.153000	0.19213	0.555000	0.69702	GCA		0.428	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		24	41	0	0	0	1	0	24	41				
SLC35G3	146861	broad.mit.edu	37	17	33520544	33520544	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33520544G>A	ENST00000297307.5	-	1	868	c.783C>T	c.(781-783)atC>atT	p.I261I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	261						integral component of membrane (GO:0016021)											CCAAGGCGAGGATCCCCACTG	0.632																																						ENST00000297307.5																			0											c.(781-783)atC>atT		solute carrier family 35, member G3							118.0	108.0	112.0					17																	33520544		2203	4296	6499	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520544G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.783C>T	17.37:g.33520544G>A							p.I261I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	868	-			261					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.783C>T	CCDS11293.1																																																																																				0.632	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		37	49	0	0	0	1	0	37	49				
SPATA20	64847	broad.mit.edu	37	17	48632596	48632596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48632596G>A	ENST00000356488.4	+	15	2196	c.2113G>A	c.(2113-2115)Gtg>Atg	p.V705M	SPATA20_ENST00000393244.3_Missense_Mutation_p.V661M|SPATA20_ENST00000511937.1_3'UTR|CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000006658.6_Missense_Mutation_p.V721M|CACNA1G-AS1_ENST00000505793.1_RNA|CACNA1G-AS1_ENST00000505495.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	705					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTCAGATCGTGATCTGTGG	0.592																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2161-2163)Gtg>Atg		spermatogenesis associated 20							164.0	123.0	137.0					17																	48632596		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48632596G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2113G>A	17.37:g.48632596G>A	ENSP00000348878:p.Val705Met					SPATA20_ENST00000393244.3_Missense_Mutation_p.V661M|SPATA20_ENST00000356488.4_Missense_Mutation_p.V705M|SPATA20_ENST00000511937.1_3'UTR	p.V721M	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		16	2281	+	Breast(11;1.23e-18)		705					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.2161G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706510	0.89018	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.27104	1.69;1.7;1.72	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	M	0.85777	2.775	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71870	0.945;0.975	T	0.64428	-0.6410	10	0.72032	D	0.01	-11.0415	18.8611	0.92271	0.0:0.0:1.0:0.0	.	705;721	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	M	721;705;661	ENSP00000006658:V721M;ENSP00000348878:V705M;ENSP00000376935:V661M	ENSP00000006658:V721M	V	+	1	0	SPATA20	45987595	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	3.844000	0.55873	2.444000	0.82710	0.555000	0.69702	GTG		0.592	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		13	12	0	0	0	1	0	13	12				
BCAS3	54828	broad.mit.edu	37	17	59457913	59457913	+	Silent	SNP	C	C	T	rs374570285		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59457913C>T	ENST00000589222.1	+	24	2708	c.2640C>T	c.(2638-2640)caC>caT	p.H880H	RP11-332H18.3_ENST00000585495.1_RNA|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000408905.3_Silent_p.H880H|BCAS3_ENST00000588462.1_Silent_p.H895H|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron					breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGAGAGACACGTGGCAGTGA	0.463																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2638-2640)caC>caT		breast carcinoma amplified sequence 3		C	,	5,1747		0,5,871	60.0	54.0	56.0		,	5.4	1.0	17		56	0,3982		0,0,1991	no	intron,intron	BCAS3	NM_001099432.1,NM_017679.3	,	0,5,2862	TT,TC,CC		0.0,0.2854,0.0872	,	,	59457913	5,5729	876	1991	2867	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59457913C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000589222.1:c.2640C>T	17.37:g.59457913C>T						RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Silent_p.H895H|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000408905.3_Silent_p.H880H	p.H880H			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		24	2708	+			0						Silent	SNP	ENST00000589222.1	37	c.2640C>T																																																																																					0.463	BCAS3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000449571.1	NM_017679		3	17	0	0	0	1	0	3	17				
ZBTB16	7704	broad.mit.edu	37	11	114121089	114121089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114121089C>T	ENST00000335953.4	+	7	2214	c.1834C>T	c.(1834-1836)Cgg>Tgg	p.R612W	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R612W|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	612					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCAGCGCTCCCGGGACTACTC	0.617																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1834-1836)Cgg>Tgg		zinc finger and BTB domain containing 16							101.0	88.0	92.0					11																	114121089		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114121089C>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1834C>T	11.37:g.114121089C>T	ENSP00000338157:p.Arg612Trp					ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R612W	p.R612W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	7	2214	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	612					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1834C>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.260680	0.80246	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.61392	0.11;0.11	5.28	5.28	0.74379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	M	0.85197	2.74	0.50313	D	0.99986	D	0.89917	1.0	D	0.87578	0.998	T	0.83285	-0.0036	10	0.87932	D	0	-14.637	18.8905	0.92399	0.0:1.0:0.0:0.0	.	612	Q05516	ZBT16_HUMAN	W	612;612;489	ENSP00000338157:R612W;ENSP00000376721:R612W	ENSP00000309507:R489W	R	+	1	2	ZBTB16	113626299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.791000	0.55469	2.460000	0.83146	0.443000	0.29094	CGG		0.617	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		10	75	0	0	0	1	0	10	75				
MET	4233	broad.mit.edu	37	7	116395560	116395560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116395560C>T	ENST00000318493.6	+	6	2040	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M	MET_ENST00000436117.2_Missense_Mutation_p.T618M|MET_ENST00000397752.3_Missense_Mutation_p.T618M			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGTGAGAGCACGATGAATACG	0.363			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1852-1854)aCg>aTg		met proto-oncogene							71.0	67.0	68.0					7																	116395560		1853	4101	5954	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116395560C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1853C>T	7.37:g.116395560C>T	ENSP00000317272:p.Thr618Met					MET_ENST00000436117.2_Missense_Mutation_p.T618M|MET_ENST00000318493.6_Missense_Mutation_p.T618M	p.T618M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		6	2053	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	618			IPT/TIG 1.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1853C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844102	0.51164	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.78126	-1.15;-1.15;-1.15	5.93	5.93	0.95920	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.442681	0.27139	N	0.020753	D	0.84124	0.5403	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.967;0.995;0.967;0.983;0.991;0.964;0.998	P;P;P;P;P;P;P;P	0.60609	0.877;0.806;0.839;0.806;0.836;0.871;0.548;0.863	D	0.84899	0.0841	10	0.72032	D	0.01	.	13.0654	0.59030	0.2:0.8:0.0:0.0	.	618;618;618;618;590;618;618;618	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;P08581-2;P08581	.;.;.;.;.;.;.;MET_HUMAN	M	618	ENSP00000380860:T618M;ENSP00000317272:T618M;ENSP00000410980:T618M	ENSP00000317272:T618M	T	+	2	0	MET	116182796	0.992000	0.36948	0.977000	0.42913	0.408000	0.30992	3.333000	0.52090	2.826000	0.97356	0.655000	0.94253	ACG		0.363	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			48	48	0	0	0	1	0	48	48				
PNN	5411	broad.mit.edu	37	14	39650606	39650606	+	Nonsense_Mutation	SNP	C	C	T	rs569202494		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39650606C>T	ENST00000216832.4	+	9	1760	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	565	Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAGTAGAGGTCGAGCTAGAAA	0.453																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1693-1695)Cga>Tga		pinin, desmosome associated protein							108.0	110.0	109.0					14																	39650606		2203	4300	6503	SO:0001587	stop_gained	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650606C>T	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1693C>T	14.37:g.39650606C>T	ENSP00000216832:p.Arg565*					PNN_ENST00000557680.1_Intron	p.R565*	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1760	+	Hepatocellular(127;0.213)		565			Ser-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Nonsense_Mutation	SNP	ENST00000216832.4	37	c.1693C>T	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187409	0.94923	.	.	ENSG00000100941	ENST00000216832	.	.	.	6.16	4.35	0.52113	.	0.052209	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5227	8.7811	0.34792	0.3957:0.534:0.0:0.0703	.	.	.	.	X	565	.	ENSP00000216832:R565X	R	+	1	2	PNN	38720357	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.007000	0.40883	0.932000	0.37266	0.650000	0.86243	CGA		0.453	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		24	33	0	0	0	1	0	24	33				
RCAN2	10231	broad.mit.edu	37	6	46216554	46216554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46216554A>G	ENST00000330430.6	-	2	355	c.167T>C	c.(166-168)aTa>aCa	p.I56T	RCAN2_ENST00000405162.1_Missense_Mutation_p.I102T|RCAN2_ENST00000306764.7_Missense_Mutation_p.I102T|RCAN2_ENST00000371374.1_Missense_Mutation_p.I102T	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	56					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGAAGTTTATACGGACACG	0.408																																						ENST00000371374.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(304-306)aTa>aCa		regulator of calcineurin 2							110.0	98.0	102.0					6																	46216554		1847	4108	5955	SO:0001583	missense	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46216554A>G	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.167T>C	6.37:g.46216554A>G	ENSP00000329454:p.Ile56Thr					RCAN2_ENST00000306764.7_Missense_Mutation_p.I102T|RCAN2_ENST00000330430.6_Missense_Mutation_p.I56T|RCAN2_ENST00000405162.1_Missense_Mutation_p.I102T	p.I102T	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN			3	496	-			56					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	ENST00000330430.6	37	c.305T>C	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443504	0.83993	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.72	5.72	0.89469	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.91635	0.999;0.997	T	0.80527	-0.1343	9	0.87932	D	0	-12.3345	15.194	0.73071	1.0:0.0:0.0:0.0	.	102;56	Q14206-2;Q14206	.;RCAN2_HUMAN	T	56;102;102;102	.	ENSP00000305223:I102T	I	-	2	0	RCAN2	46324513	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.893000	0.92498	2.184000	0.69523	0.482000	0.46254	ATA		0.408	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			26	20	0	0	0	1	0	26	20				
TAB2	23118	broad.mit.edu	37	6	149699899	149699899	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149699899T>G	ENST00000367456.1	+	4	1425	c.848T>G	c.(847-849)gTc>gGc	p.V283G	TAB2_ENST00000392282.1_Missense_Mutation_p.V283G|TAB2_ENST00000536230.1_Missense_Mutation_p.V251G|TAB2_ENST00000286332.5_Missense_Mutation_p.V283G|TAB2_ENST00000538427.1_Missense_Mutation_p.V283G			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	283					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCTCTCATGTCTACATGCCA	0.468																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(847-849)gTc>gGc		TGF-beta activated kinase 1/MAP3K7 binding protein 2							173.0	151.0	158.0					6																	149699899		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699899T>G	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.848T>G	6.37:g.149699899T>G	ENSP00000356426:p.Val283Gly					TAB2_ENST00000286332.5_Missense_Mutation_p.V283G|TAB2_ENST00000392282.1_Missense_Mutation_p.V283G|TAB2_ENST00000538427.1_Missense_Mutation_p.V283G|TAB2_ENST00000536230.1_Missense_Mutation_p.V251G	p.V283G			Q9NYJ8	TAB2_HUMAN			4	1425	+			283					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.848T>G	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109801	0.37242	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	D;D;D;D;D	0.83250	-1.7;-1.62;-1.66;-1.66;-1.66	6.03	6.03	0.97812	.	0.107337	0.64402	D	0.000006	T	0.81631	0.4863	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.879	T	0.82277	-0.0537	10	0.40728	T	0.16	-5.9338	16.5724	0.84622	0.0:0.0:0.0:1.0	.	251;283	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	G	251;283;283;283;283	ENSP00000443206:V251G;ENSP00000376106:V283G;ENSP00000445752:V283G;ENSP00000356426:V283G;ENSP00000286332:V283G	ENSP00000286332:V283G	V	+	2	0	TAB2	149741592	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.499000	0.81566	2.313000	0.78055	0.455000	0.32223	GTC		0.468	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			10	77	0	0	0	1	0	10	77				
ZCCHC11	23318	broad.mit.edu	37	1	52924096	52924096	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52924096C>A	ENST00000371544.3	-	20	3609	c.3347G>T	c.(3346-3348)aGg>aTg	p.R1116M	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1116M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1116					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TAAACTTCCCCTGGAAGCATC	0.393																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3346-3348)aGg>aTg		zinc finger, CCHC domain containing 11							97.0	95.0	95.0					1																	52924096		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52924096C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3347G>T	1.37:g.52924096C>A	ENSP00000360599:p.Arg1116Met					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1116M	p.R1116M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			20	3609	-			1116					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3347G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053532	0.93793	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642	T;T;T	0.56275	0.47;0.47;0.47	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.69958	0.3169	M	0.69823	2.125	0.80722	D	1	D	0.56287	0.975	P	0.58331	0.837	T	0.69018	-0.5256	10	0.48119	T	0.1	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	1116	Q5TAX3	TUT4_HUMAN	M	1116;1116;1045	ENSP00000257177:R1116M;ENSP00000360599:R1116M;ENSP00000433486:R1045M	ENSP00000257177:R1116M	R	-	2	0	ZCCHC11	52696684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.720000	0.93068	0.557000	0.71058	AGG		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		5	55	1	0	1.23904e-05	1	1.39987e-05	5	55				
NR0B1	190	broad.mit.edu	37	X	30327013	30327013	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30327013C>A	ENST00000378970.4	-	1	702	c.468G>T	c.(466-468)acG>acT	p.T156T	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Silent_p.T156T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	156	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAGCCACGTGCGTTTGCTTTG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(466-468)acG>acT		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						19.0	16.0	17.0					X																	30327013		2197	4289	6486	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327013C>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.468G>T	X.37:g.30327013C>A			OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Silent_p.T156T	p.T156T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	702	-			156			4 X 67 AA tandem repeats.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.468G>T	CCDS14223.1																																																																																				0.677	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		10	17	1	0	1.08611e-07	1	1.2824e-07	10	17				
NLRC4	58484	broad.mit.edu	37	2	32449721	32449721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32449721G>A	ENST00000404025.2	-	10	3384	c.2896C>T	c.(2896-2898)Caa>Taa	p.Q966*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.Q301*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	966					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACACTAATTGCTTAAGATTC	0.383																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2896-2898)Caa>Taa		NLR family, CARD domain containing 4							86.0	89.0	88.0					2																	32449721		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32449721G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2896C>T	2.37:g.32449721G>A	ENSP00000385090:p.Gln966*					NLRC4_ENST00000342905.6_Nonsense_Mutation_p.Q301*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.Q966*	p.Q966*			Q9NPP4	NLRC4_HUMAN			10	3384	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		966					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.2896C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955332	0.92726	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.42	0.325	0.15903	.	0.227351	0.22491	N	0.059369	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-8.4617	2.4391	0.04490	0.0971:0.2921:0.3551:0.2557	.	.	.	.	X	966;966;301;966	.	ENSP00000339666:Q301X	Q	-	1	0	NLRC4	32303225	0.973000	0.33851	0.066000	0.19879	0.276000	0.26787	1.022000	0.30052	0.502000	0.28037	-0.150000	0.13652	CAA		0.383	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		10	58	0	0	0	1	0	10	58				
MUC17	140453	broad.mit.edu	37	7	100686241	100686241	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100686241C>A	ENST00000306151.4	+	3	11608	c.11544C>A	c.(11542-11544)acC>acA	p.T3848T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3848					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTGCTCACCTCTACCAAAG	0.458																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11542-11544)acC>acA		mucin 17, cell surface associated							131.0	116.0	121.0					7																	100686241		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686241C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11544C>A	7.37:g.100686241C>A							p.T3848T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11608	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3848					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.11544C>A	CCDS34711.1																																																																																				0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		48	38	1	0	8.00217e-19	1	1.04538e-18	48	38				
PHLPP2	23035	broad.mit.edu	37	16	71692149	71692149	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71692149G>A	ENST00000568954.1	-	15	2644	c.2266C>T	c.(2266-2268)Ctg>Ttg	p.L756L	PHLPP2_ENST00000540628.1_5'UTR|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Silent_p.L791L|PHLPP2_ENST00000356272.3_Silent_p.L756L|PHLPP2_ENST00000360429.3_Silent_p.L756L|PHLPP2_ENST00000393524.2_Silent_p.L689L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	756					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATATGTCCAGTGTCTTGTGT	0.423																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2065-2067)Ctg>Ttg		PH domain and leucine rich repeat protein phosphatase 2							119.0	110.0	113.0					16																	71692149		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71692149G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2266C>T	16.37:g.71692149G>A						RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Silent_p.L791L|PHLPP2_ENST00000360429.3_Silent_p.L756L|PHLPP2_ENST00000356272.3_Silent_p.L756L|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000568954.1_Silent_p.L756L	p.L689L			Q6ZVD8	PHLP2_HUMAN			13	2798	-			756					A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.2065C>T	CCDS32479.1																																																																																				0.423	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		4	93	0	0	0	1	0	4	93				
FASN	2194	broad.mit.edu	37	17	80053284	80053284	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80053284G>A	ENST00000306749.2	-	3	410	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	64	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGACTCCGAAGAAGGAGGCAT	0.617																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(190-192)ttC>ttT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						75.0	67.0	69.0					17																	80053284		2203	4300	6503	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80053284G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.192C>T	17.37:g.80053284G>A							p.F64F	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		3	410	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		64			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.192C>T	CCDS11801.1																																																																																				0.617	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		13	27	0	0	0	1	0	13	27				
CASP14	23581	broad.mit.edu	37	19	15166060	15166060	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15166060C>A	ENST00000427043.3	+	5	803	c.495C>A	c.(493-495)gcC>gcA	p.A165A	CASP14_ENST00000221740.1_Silent_p.A165A|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	165					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACACAGATGCCTTGCACGTTT	0.532																																						ENST00000427043.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(493-495)gcC>gcA		caspase 14, apoptosis-related cysteine peptidase							128.0	115.0	120.0					19																	15166060		2203	4300	6503	SO:0001819	synonymous_variant	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166060C>A		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.495C>A	19.37:g.15166060C>A						CASP14_ENST00000221740.1_Silent_p.A165A	p.A165A	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			5	803	+			165					O95823|Q3SYC9	Silent	SNP	ENST00000427043.3	37	c.495C>A	CCDS12323.1																																																																																				0.532	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		4	47	1	0	0.00024832	1	0.0002712	4	47				
OR4A47	403253	broad.mit.edu	37	11	48511062	48511062	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48511062T>C	ENST00000446524.1	+	1	794	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AACCTGCAGTTCCCACATGAC	0.413																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(718-720)Tcc>Ccc		olfactory receptor, family 4, subfamily A, member 47							167.0	161.0	163.0					11																	48511062		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511062T>C	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.718T>C	11.37:g.48511062T>C	ENSP00000412752:p.Ser240Pro						p.S240P	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	794	+			240						Missense_Mutation	SNP	ENST00000446524.1	37	c.718T>C	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.30	1.897485	0.33535	.	.	ENSG00000237388	ENST00000446524	T	0.39592	1.07	4.59	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.64249	0.2581	M	0.85710	2.77	0.27914	N	0.938498	D	0.89917	1.0	D	0.91635	0.999	T	0.59799	-0.7386	10	0.87932	D	0	.	8.8285	0.35069	0.0:0.0:0.3716:0.6284	.	240	Q6IF82	O4A47_HUMAN	P	240	ENSP00000412752:S240P	ENSP00000412752:S240P	S	+	1	0	OR4A47	48467638	0.530000	0.26330	0.944000	0.38274	0.367000	0.29736	1.230000	0.32612	0.582000	0.29556	0.172000	0.16884	TCC		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		100	118	0	0	0	1	0	100	118				
P2RY4	5030	broad.mit.edu	37	X	69478906	69478906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69478906C>T	ENST00000374519.2	-	1	748	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	190					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.R190P(1)|p.R190S(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTCTTCAGGCCGAGTGGTGTC	0.572																																						ENST00000374519.2																			2	Substitution - Missense(2)	p.R190P(1)|p.R190S(1)	lung(2)	cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(568-570)cGg>cAg		pyrimidinergic receptor P2Y, G-protein coupled, 4							93.0	82.0	86.0					X																	69478906		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478906C>T	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.569G>A	X.37:g.69478906C>T	ENSP00000363643:p.Arg190Gln						p.R190Q	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	748	-			190					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.569G>A	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618354	0.28801	.	.	ENSG00000186912	ENST00000374519	T	0.20463	2.07	4.29	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.754956	0.12078	U	0.501586	T	0.08935	0.0221	N	0.20401	0.57	0.09310	N	1	P	0.43973	0.823	B	0.36808	0.233	T	0.15521	-1.0434	10	0.17369	T	0.5	.	2.4093	0.04420	0.4278:0.2579:0.0:0.3142	.	190	P51582	P2RY4_HUMAN	Q	190	ENSP00000363643:R190Q	ENSP00000363643:R190Q	R	-	2	0	P2RY4	69395631	0.029000	0.19370	0.985000	0.45067	0.966000	0.64601	0.198000	0.17217	0.275000	0.22094	0.517000	0.50305	CGG		0.572	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		16	27	0	0	0	1	0	16	27				
LAMA2	3908	broad.mit.edu	37	6	129601266	129601266	+	Silent	SNP	C	C	T	rs201420653		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129601266C>T	ENST00000421865.2	+	18	2560	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	837	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCCCTGTCGGGTACACAG	0.453																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2509-2511)gtC>gtT		laminin, alpha 2							218.0	173.0	189.0					6																	129601266		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129601266C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2511C>T	6.37:g.129601266C>T							p.V837V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	18	2560	+			837			Laminin EGF-like 7.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.2511C>T	CCDS5138.1																																																																																				0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	30	0	0	0	1	0	13	30				
FCGBP	8857	broad.mit.edu	37	19	40433186	40433186	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433186C>T	ENST00000221347.6	-	2	1090	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	361	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTCTGTGCCACTACCAGGG	0.607																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1081-1083)gtG>gtA		Fc fragment of IgG binding protein							99.0	74.0	83.0					19																	40433186		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433186C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1083G>A	19.37:g.40433186C>T							p.V361V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1090	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		361			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.1083G>A	CCDS12546.1																																																																																				0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	17	0	0	0	1	0	6	17				
PARP1	142	broad.mit.edu	37	1	226552832	226552832	+	Silent	SNP	G	G	A	rs148631906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226552832G>A	ENST00000366794.5	-	19	2672	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	843	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGCATTCGCCTTCACGCT	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2527-2529)ggC>ggT	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1		G		0,4406		0,0,2203	68.0	66.0	67.0		2529	-5.2	0.9	1	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PARP1	NM_001618.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		843/1015	226552832	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226552832G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2529C>T	1.37:g.226552832G>A						PARP1_ENST00000490921.1_5'UTR	p.G843G	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	19	2672	-	Breast(184;0.133)		843			PARP catalytic.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2529C>T	CCDS1554.1																																																																																				0.488	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		30	34	0	0	0	1	0	30	34				
GC	2638	broad.mit.edu	37	4	72631303	72631303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72631303C>A	ENST00000273951.8	-	4	662	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	GC_ENST00000504199.1_Missense_Mutation_p.G126C|GC_ENST00000503472.1_Splice_Site|GC_ENST00000513476.1_Missense_Mutation_p.G107C	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	107	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TCAGCAGTGCCTGGGTGAACG	0.498																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(319-321)Ggc>Tgc		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						112.0	106.0	108.0					4																	72631303		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72631303C>A	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.319G>T	4.37:g.72631303C>A	ENSP00000273951:p.Gly107Cys					GC_ENST00000504199.1_Missense_Mutation_p.G126C|GC_ENST00000503472.1_Splice_Site|GC_ENST00000513476.1_Missense_Mutation_p.G107C	p.G107C	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		4	662	-		all_hematologic(202;0.107)	107			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.319G>T	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450200	0.26074	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.5	5.5	0.81552	.	0.128547	0.49916	D	0.000121	D	0.85405	0.5689	M	0.64997	1.995	0.33820	D	0.628931	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.88867	0.3330	10	0.87932	D	0	.	19.3614	0.94440	0.0:1.0:0.0:0.0	.	126;107	D6RAK8;D6RF35	.;.	C	107;126;107;107	ENSP00000273951:G107C;ENSP00000421725:G126C;ENSP00000426683:G107C;ENSP00000426718:G107C	ENSP00000273951:G107C	G	-	1	0	GC	72850167	0.938000	0.31826	0.540000	0.28089	0.147000	0.21601	5.769000	0.68865	2.735000	0.93741	0.655000	0.94253	GGC		0.498	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			11	70	1	0	1.08611e-07	1	1.2824e-07	11	70				
LARP1	23367	broad.mit.edu	37	5	154172182	154172182	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154172182C>T	ENST00000336314.4	+	4	358	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	189					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTGCTATAGCCACAGTCCCA	0.522																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.e4-1		La ribonucleoprotein domain family, member 1							197.0	179.0	185.0					5																	154172182		2203	4300	6503	SO:0001630	splice_region_variant	23367						protein binding|RNA binding	g.chr5:154172182C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.334-1C>T	5.37:g.154172182C>T							p.P112_splice	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	358	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	189					O94836|Q8N4M2|Q8NB73|Q9UFD7	Splice_Site	SNP	ENST00000336314.4	37	c.333_splice	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.06|10.06	1.246879|1.246879	0.22796|0.22796	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000517616|ENST00000336314;ENST00000518297	.|T;T	.|0.40756	.|1.92;1.02	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.307721	.|0.36101	.|N	.|0.002791	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.01576|0.01576	-0.805|-0.805	0.51482|0.51482	D|D	0.99992|0.99992	.|P;B	.|0.37781	.|0.608;0.134	.|B;B	.|0.32090	.|0.14;0.027	T|T	0.23013|0.23013	-1.0200|-1.0200	5|9	.|.	.|.	.|.	-8.3239|-8.3239	18.5271|18.5271	0.90976|0.90976	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|189;112	.|Q6PKG0;Q6PKG0-3	.|LARP1_HUMAN;.	V|S	91|112;189	.|ENSP00000336721:P112S;ENSP00000428589:P189S	.|.	A|P	+|+	2|1	0|0	LARP1|LARP1	154152375|154152375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.412000|0.412000	0.31113|0.31113	2.806000|2.806000	0.47947|0.47947	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.522	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Missense_Mutation	38	79	0	0	0	1	0	38	79				
CALR3	125972	broad.mit.edu	37	19	16593275	16593275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16593275G>A	ENST00000269881.3	-	7	966	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	CTD-3222D19.2_ENST00000409035.1_3'UTR|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	302	C-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CAAAGCTCCAGGCCAATGGCA	0.398																																						ENST00000269881.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						c.(904-906)Ctg>Ttg		calreticulin 3							166.0	147.0	153.0					19																	16593275		2203	4300	6503	SO:0001819	synonymous_variant	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16593275G>A	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.904C>T	19.37:g.16593275G>A						CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR	p.L302L	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN			7	966	-			302			C-domain.		D9N574|Q96LN3	Silent	SNP	ENST00000269881.3	37	c.904C>T	CCDS12344.1																																																																																				0.398	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046		24	29	0	0	0	1	0	24	29				
TAS2R9	50835	broad.mit.edu	37	12	10962280	10962280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962280G>A	ENST00000240691.2	-	1	487	c.395C>T	c.(394-396)gCg>gTg	p.A132V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	132					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGAATCGCAAGCATGAC	0.358																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(394-396)gCg>gTg		taste receptor, type 2, member 9							68.0	71.0	70.0					12																	10962280		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962280G>A	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.395C>T	12.37:g.10962280G>A	ENSP00000240691:p.Ala132Val						p.A132V	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	487	-			132					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.395C>T	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	G	4.967	0.179613	0.09443	.	.	ENSG00000121381	ENST00000240691	T	0.00705	5.81	4.05	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	1.256470	0.06138	U	0.671817	T	0.00271	0.0008	N	0.00465	-1.465	0.09310	N	1	B	0.25667	0.131	B	0.15870	0.014	T	0.41980	-0.9478	10	0.15066	T	0.55	.	1.7727	0.03015	0.2805:0.4223:0.1428:0.1544	.	132	Q9NYW1	TA2R9_HUMAN	V	132	ENSP00000240691:A132V	ENSP00000240691:A132V	A	-	2	0	TAS2R9	10853547	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.130000	0.03241	-0.067000	0.12976	-0.234000	0.12200	GCG		0.358	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			17	33	0	0	0	1	0	17	33				
BRPF1	7862	broad.mit.edu	37	3	9776248	9776248	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776248C>A	ENST00000457855.1	+	1	435	c.424C>A	c.(424-426)Cca>Aca	p.P142T	BRPF1_ENST00000424362.1_Missense_Mutation_p.P142T|BRPF1_ENST00000433861.2_Missense_Mutation_p.P142T|BRPF1_ENST00000302054.3_Missense_Mutation_p.P142T|BRPF1_ENST00000383829.2_Missense_Mutation_p.P142T			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	142	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACTGAGACACCAGCTGCTAC	0.542																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(424-426)Cca>Aca		bromodomain and PHD finger containing, 1							86.0	84.0	84.0					3																	9776248		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776248C>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.424C>A	3.37:g.9776248C>A	ENSP00000410210:p.Pro142Thr					BRPF1_ENST00000433861.2_Missense_Mutation_p.P142T|BRPF1_ENST00000424362.1_Missense_Mutation_p.P142T|BRPF1_ENST00000457855.1_Missense_Mutation_p.P142T|BRPF1_ENST00000302054.3_Missense_Mutation_p.P142T	p.P142T	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	828	+	Medulloblastoma(99;0.227)		142			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.424C>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689365	0.48097	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.73	5.73	0.89815	Enhancer of polycomb-like, N-terminal (1);	0.338170	0.34411	N	0.003986	T	0.47875	0.1469	L	0.49126	1.545	0.46376	D	0.999019	P;B;B;B	0.35821	0.523;0.001;0.026;0.014	B;B;B;B	0.41466	0.358;0.016;0.062;0.148	T	0.42032	-0.9475	10	0.51188	T	0.08	.	19.4877	0.95037	0.0:1.0:0.0:0.0	.	142;142;142;142	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	T	142	ENSP00000402485:P142T;ENSP00000398863:P142T;ENSP00000373340:P142T;ENSP00000306297:P142T;ENSP00000410210:P142T	ENSP00000306297:P142T	P	+	1	0	BRPF1	9751248	0.994000	0.37717	0.682000	0.30024	0.965000	0.64279	5.289000	0.65656	2.709000	0.92574	0.563000	0.77884	CCA		0.542	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		7	42	1	0	8.12818e-05	1	8.99451e-05	7	42				
HYI	81888	broad.mit.edu	37	1	43917949	43917949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43917949C>T	ENST00000372425.4	-	3	548	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000372434.1_Missense_Mutation_p.R143Q|HYI_ENST00000372426.1_Missense_Mutation_p.R70Q|HYI_ENST00000372432.1_Missense_Mutation_p.R118Q|HYI_ENST00000486909.1_Missense_Mutation_p.R118Q|HYI_ENST00000583037.1_Missense_Mutation_p.R45Q			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	118							hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACTGCTATTCGATCAGCTCC	0.572																																						ENST00000583037.1																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6						c.(133-135)cGa>cAa		hydroxypyruvate isomerase (putative)							152.0	130.0	137.0					1																	43917949		2203	4300	6503	SO:0001583	missense	81888						hydroxypyruvate isomerase activity	g.chr1:43917949C>T		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.353G>A	1.37:g.43917949C>T	ENSP00000361502:p.Arg118Gln					HYI_ENST00000372432.1_Missense_Mutation_p.R118Q|SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372425.4_Missense_Mutation_p.R118Q|HYI_ENST00000372426.1_Missense_Mutation_p.R70Q|HYI_ENST00000372434.1_Missense_Mutation_p.R143Q|HYI_ENST00000486909.1_Missense_Mutation_p.R118Q	p.R45Q	NM_001190880.2	NP_001177809.1	Q5T013	HYI_HUMAN			3	548	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	118					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.134G>A	CCDS53309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.05|15.05	2.719353|2.719353	0.48728|0.48728	.|.	.|.	ENSG00000178922|ENSG00000178922	ENST00000470662;ENST00000487366|ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909	.|T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89	5.49|5.49	1.37|1.37	0.22104|0.22104	.|Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);	.|0.234953	.|0.43260	.|D	.|0.000595	T|T	0.50343|0.50343	0.1610|0.1610	M|M	0.76838|0.76838	2.35|2.35	0.09310|0.09310	N|N	0.999999|0.999999	.|D	.|0.54772	.|0.968	.|P	.|0.49752	.|0.621	T|T	0.50320|0.50320	-0.8842|-0.8842	5|10	.|0.62326	.|D	.|0.03	.|.	11.4961|11.4961	0.50408|0.50408	0.0:0.5973:0.3382:0.0645|0.0:0.5973:0.3382:0.0645	.|.	.|118	.|Q5T013	.|HYI_HUMAN	K|Q	37;42|118;36;70;45;118;51;70;118	.|ENSP00000361502:R118Q;ENSP00000361509:R118Q;ENSP00000361503:R70Q;ENSP00000428399:R118Q	.|ENSP00000361502:R118Q	E|R	-|-	1|2	0|0	HYI|HYI	43690536|43690536	0.990000|0.990000	0.36364|0.36364	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	3.641000|3.641000	0.54360|0.54360	0.072000|0.072000	0.16694|0.16694	-0.539000|-0.539000	0.04255|0.04255	GAA|CGA		0.572	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		9	17	0	0	0	1	0	9	17				
HECTD1	25831	broad.mit.edu	37	14	31641315	31641315	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31641315A>G	ENST00000399332.1	-	7	1658	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N	HECTD1_ENST00000553700.1_Silent_p.N390N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	390					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATCCATAAAATTTACTTCAA	0.299																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(1168-1170)aaT>aaC		HECT domain containing E3 ubiquitin protein ligase 1							47.0	45.0	46.0					14																	31641315		1790	4062	5852	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31641315A>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1170T>C	14.37:g.31641315A>G						HECTD1_ENST00000553700.1_Silent_p.N390N	p.N390N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	7	1658	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		390					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.1170T>C	CCDS41939.1																																																																																				0.299	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			12	25	0	0	0	1	0	12	25				
TAS2R5	54429	broad.mit.edu	37	7	141490585	141490585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141490585G>A	ENST00000247883.4	+	1	569	c.424G>A	c.(424-426)Gtc>Atc	p.V142I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	142					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTTACTTACAGTCCAAATTGG	0.468																																						ENST00000247883.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(424-426)Gtc>Atc		taste receptor, type 2, member 5							86.0	76.0	79.0					7																	141490585		2203	4300	6503	SO:0001583	missense	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490585G>A	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.424G>A	7.37:g.141490585G>A	ENSP00000247883:p.Val142Ile						p.V142I	NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN			1	569	+	Melanoma(164;0.0171)		142					Q645W0|Q75MV7	Missense_Mutation	SNP	ENST00000247883.4	37	c.424G>A	CCDS5869.1	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974355	0.18736	.	.	ENSG00000127366	ENST00000247883	T	0.37058	1.22	4.36	-1.1	0.09872	.	.	.	.	.	T	0.18299	0.0439	N	0.13140	0.3	0.09310	N	1	B	0.17852	0.024	B	0.27076	0.076	T	0.31724	-0.9933	9	0.25106	T	0.35	.	3.7831	0.08689	0.196:0.0:0.3105:0.4935	.	142	Q9NYW4	TA2R5_HUMAN	I	142	ENSP00000247883:V142I	ENSP00000247883:V142I	V	+	1	0	TAS2R5	141137054	0.003000	0.15002	0.000000	0.03702	0.032000	0.12392	0.820000	0.27323	0.104000	0.17725	0.561000	0.74099	GTC		0.468	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			30	25	0	0	0	1	0	30	25				
NOTCH1	4851	broad.mit.edu	37	9	139393414	139393414	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393414G>A	ENST00000277541.6	-	33	6192	c.6117C>T	c.(6115-6117)aaC>aaT	p.N2039N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2039					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CATCCACATTGTTCACGGCGG	0.617			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6115-6117)aaC>aaT		notch 1							125.0	138.0	134.0					9																	139393414		2084	4209	6293	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393414G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6117C>T	9.37:g.139393414G>A		HNSCC(8;0.001)					p.N2039N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	33	6192	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2039					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.6117C>T	CCDS43905.1																																																																																				0.617	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	107	0	0	0	1	0	11	107				
CCT8	10694	broad.mit.edu	37	21	30432936	30432936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30432936C>A	ENST00000286788.4	-	14	1701	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	CCT8_ENST00000540844.1_Missense_Mutation_p.D426Y|AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.D480Y	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	499					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTAAGTATCTAGAATACCA	0.378																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(1495-1497)Gat>Tat		chaperonin containing TCP1, subunit 8 (theta)							130.0	118.0	122.0					21																	30432936		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30432936C>A	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1495G>T	21.37:g.30432936C>A	ENSP00000286788:p.Asp499Tyr					CCT8_ENST00000540844.1_Missense_Mutation_p.D426Y|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.D480Y	p.D499Y	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			14	1701	-			499					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.1495G>T	CCDS33528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.739767|4.739767	0.89573|0.89573	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844|ENST00000432178	D;D;D|.	0.89485|.	-2.52;-2.52;-2.52|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.093369|.	0.64402|.	D|.	0.000001|.	D|D	0.88291|0.88291	0.6397|0.6397	H|H	0.96547|0.96547	3.84|3.84	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.85130|.	0.992;0.997;0.992;0.986;0.948|.	D|D	0.91148|0.91148	0.4951|0.4951	10|5	0.87932|.	D|.	0|.	-29.024|-29.024	19.5946|19.5946	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;480;499;498;499|.	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990|.	.;.;.;.;TCPQ_HUMAN|.	Y|I	498;499;480;426|57	ENSP00000286788:D499Y;ENSP00000444984:D480Y;ENSP00000442730:D426Y|.	ENSP00000286788:D499Y|.	D|R	-|-	1|2	0|0	CCT8|CCT8	29354807|29354807	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.985000|0.985000	0.73830|0.73830	7.313000|7.313000	0.78978|0.78978	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.378	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			48	71	1	0	5.34276e-22	1	7.04553e-22	48	71				
STRN4	29888	broad.mit.edu	37	19	47228890	47228890	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228890C>A	ENST00000263280.6	-	10	1313	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	STRN4_ENST00000391910.3_Missense_Mutation_p.D429Y|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.D303Y|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	422						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTAAAAGCATCTTTGCTGTCA	0.602																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1285-1287)Gat>Tat		striatin, calmodulin binding protein 4							88.0	90.0	89.0					19																	47228890		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228890C>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1264G>T	19.37:g.47228890C>A	ENSP00000263280:p.Asp422Tyr					STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.D303Y|STRN4_ENST00000263280.6_Missense_Mutation_p.D422Y	p.D429Y			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1735	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	422					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1285G>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451500	0.84209	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.69040	-0.37;-0.37;-0.23	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.124662	0.53938	D	0.000060	T	0.77644	0.4161	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.927	T	0.80303	-0.1439	10	0.87932	D	0	-19.3722	16.8978	0.86105	0.0:1.0:0.0:0.0	.	429;422	F8VYA6;Q9NRL3	.;STRN4_HUMAN	Y	429;422;303	ENSP00000375777:D429Y;ENSP00000263280:D422Y;ENSP00000440901:D303Y	ENSP00000263280:D422Y	D	-	1	0	STRN4	51920730	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.537000	0.82033	2.290000	0.77057	0.561000	0.74099	GAT		0.602	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			10	28	1	0	0.000978159	1	0.00105116	10	28				
CDK7	1022	broad.mit.edu	37	5	68550442	68550442	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68550442C>T	ENST00000256443.3	+	4	277	c.174C>T	c.(172-174)acC>acT	p.T58T	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000514676.1_Silent_p.T58T|CDK7_ENST00000502604.1_5'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TAAATAGAACCGCCTTAAGAG	0.308								Nucleotide excision repair (NER)																														ENST00000256443.3																			0				endometrium(1)|lung(2)	3						c.(172-174)acC>acT	Nucleotide excision repair (NER)	cyclin-dependent kinase 7							50.0	57.0	55.0					5																	68550442		2203	4299	6502	SO:0001819	synonymous_variant	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68550442C>T		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.174C>T	5.37:g.68550442C>T						CDK7_ENST00000514676.1_Silent_p.T58T|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR	p.T58T	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	4	277	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	58			Protein kinase.		Q9BS60|Q9UE19	Silent	SNP	ENST00000256443.3	37	c.174C>T	CCDS3999.1																																																																																				0.308	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		13	48	0	0	0	1	0	13	48				
DRP2	1821	broad.mit.edu	37	X	100492743	100492743	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100492743A>T	ENST00000395209.3	+	5	944	c.417A>T	c.(415-417)caA>caT	p.Q139H	DRP2_ENST00000538510.1_Missense_Mutation_p.Q139H|DRP2_ENST00000541709.1_Missense_Mutation_p.Q61H|DRP2_ENST00000402866.1_Missense_Mutation_p.Q139H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	139					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGTGCAACAGGAGAAGG	0.542																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(415-417)caA>caT		dystrophin related protein 2							98.0	93.0	95.0					X																	100492743		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100492743A>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.417A>T	X.37:g.100492743A>T	ENSP00000378635:p.Gln139His					DRP2_ENST00000541709.1_Missense_Mutation_p.Q61H|DRP2_ENST00000402866.1_Missense_Mutation_p.Q139H|DRP2_ENST00000538510.1_Missense_Mutation_p.Q139H	p.Q139H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			5	944	+			139					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.417A>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	a	19.60	3.857407	0.71834	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.87	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.60455	1.87	0.49798	D	0.999823	B	0.21225	0.053	B	0.20184	0.028	T	0.09707	-1.0662	10	0.54805	T	0.06	-10.1833	6.8827	0.24183	0.5178:0.0:0.4822:0.0	.	139	Q13474	DRP2_HUMAN	H	139;139;61;139	ENSP00000385038:Q139H;ENSP00000378635:Q139H;ENSP00000444752:Q61H;ENSP00000441051:Q139H	ENSP00000362007:Q139H	Q	+	3	2	DRP2	100379399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.103000	0.50298	0.324000	0.23333	0.438000	0.28831	CAA		0.542	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		30	86	0	0	0	1	0	30	86				
F8	2157	broad.mit.edu	37	X	154088874	154088874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154088874G>A	ENST00000360256.4	-	25	6933	c.6733C>T	c.(6733-6735)Cca>Tca	p.P2245S	F8_ENST00000330287.6_Missense_Mutation_p.P110S	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2245	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTCTTTTGGATTATTCACC	0.443																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(6733-6735)Cca>Tca		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						103.0	89.0	93.0					X																	154088874		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154088874G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6733C>T	X.37:g.154088874G>A	ENSP00000353393:p.Pro2245Ser					F8_ENST00000330287.6_Missense_Mutation_p.P110S	p.P2245S	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			25	6933	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2245			F5/8 type C 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6733C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	15.07	2.725170	0.48833	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98135	-4.74;-4.74	5.32	4.44	0.53790	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.372809	0.30311	N	0.009902	D	0.96664	0.8911	L	0.41710	1.295	0.20764	N	0.999855	D;P	0.55385	0.971;0.799	P;B	0.55965	0.788;0.285	D	0.91711	0.5381	10	0.30078	T	0.28	-1.9817	10.8448	0.46737	0.0:0.1866:0.8134:0.0	.	2245;110	P00451;Q14286	FA8_HUMAN;.	S	110;2245	ENSP00000327895:P110S;ENSP00000353393:P2245S	ENSP00000327895:P110S	P	-	1	0	F8	153742068	0.997000	0.39634	0.899000	0.35326	0.879000	0.50718	3.054000	0.49908	0.989000	0.38761	0.540000	0.68198	CCA		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			38	56	0	0	0	1	0	38	56				
LRRC39	127495	broad.mit.edu	37	1	100620647	100620647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100620647G>A	ENST00000370137.1	-	8	970	c.772C>T	c.(772-774)Caa>Taa	p.Q258*	LRRC39_ENST00000342895.3_Nonsense_Mutation_p.Q258*|LRRC39_ENST00000370138.1_Nonsense_Mutation_p.Q258*	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGAATATCTTGCAGTTTATTG	0.368																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(772-774)Caa>Taa		leucine rich repeat containing 39							128.0	122.0	124.0					1																	100620647		2202	4300	6502	SO:0001587	stop_gained	127495							g.chr1:100620647G>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.772C>T	1.37:g.100620647G>A	ENSP00000359156:p.Gln258*					LRRC39_ENST00000370137.1_Nonsense_Mutation_p.Q258*|LRRC39_ENST00000342895.3_Nonsense_Mutation_p.Q258*	p.Q258*	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	8	970	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	258					B3KUD2|D3DT56|Q5VVK7	Nonsense_Mutation	SNP	ENST00000370137.1	37	c.772C>T	CCDS766.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957515	0.92726	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	.	.	.	5.91	1.59	0.23543	.	0.353444	0.24443	N	0.038497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	16.0921	0.81098	0.0:0.0:0.3819:0.6181	.	.	.	.	X	258	.	ENSP00000344470:Q258X	Q	-	1	0	LRRC39	100393235	0.835000	0.29415	0.808000	0.32385	0.879000	0.50718	1.028000	0.30128	0.351000	0.24027	0.655000	0.94253	CAA		0.368	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		9	122	0	0	0	1	0	9	122				
UACA	55075	broad.mit.edu	37	15	70959353	70959353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70959353C>T	ENST00000322954.6	-	16	3855	c.3670G>A	c.(3670-3672)Gtt>Att	p.V1224I	UACA_ENST00000379983.2_Missense_Mutation_p.V1211I|UACA_ENST00000539319.1_Missense_Mutation_p.V1115I|UACA_ENST00000560441.1_Missense_Mutation_p.V1209I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1224					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAAGTCAACTACCTCTCTA	0.338																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3670-3672)Gtt>Att		uveal autoantigen with coiled-coil domains and ankyrin repeats							101.0	100.0	100.0					15																	70959353		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959353C>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3670G>A	15.37:g.70959353C>T	ENSP00000314556:p.Val1224Ile					UACA_ENST00000539319.1_Missense_Mutation_p.V1115I|UACA_ENST00000379983.2_Missense_Mutation_p.V1211I|UACA_ENST00000560441.1_Missense_Mutation_p.V1209I	p.V1224I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3855	-			1224					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3670G>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	5.852	0.341340	0.11069	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.39592	1.07;1.08;1.58	5.66	4.56	0.56223	.	0.109256	0.40144	N	0.001168	T	0.33644	0.0870	L	0.45051	1.395	0.27823	N	0.941717	B;B;B;B	0.15473	0.004;0.002;0.004;0.013	B;B;B;B	0.18871	0.023;0.01;0.008;0.021	T	0.10019	-1.0648	10	0.22109	T	0.4	-20.0827	11.9365	0.52876	0.0:0.8519:0.0:0.1481	.	1115;1224;1224;1211	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	I	1224;1211;1115	ENSP00000314556:V1224I;ENSP00000369319:V1211I;ENSP00000438667:V1115I	ENSP00000314556:V1224I	V	-	1	0	UACA	68746407	0.004000	0.15560	0.992000	0.48379	0.908000	0.53690	0.055000	0.14229	2.665000	0.90641	0.655000	0.94253	GTT		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			23	71	0	0	0	1	0	23	71				
FHOD3	80206	broad.mit.edu	37	18	34092484	34092484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34092484C>T	ENST00000359247.4	+	5	489	c.489C>T	c.(487-489)aaC>aaT	p.N163N	FHOD3_ENST00000590592.1_Silent_p.N163N|FHOD3_ENST00000445677.1_Silent_p.N163N|FHOD3_ENST00000257209.4_Silent_p.N163N	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	163	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGATCAGAACTATCAGAACT	0.493																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(487-489)aaC>aaT		formin homology 2 domain containing 3							121.0	104.0	110.0					18																	34092484		2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34092484C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.489C>T	18.37:g.34092484C>T						FHOD3_ENST00000359247.4_Silent_p.N163N|FHOD3_ENST00000590592.1_Silent_p.N163N|FHOD3_ENST00000445677.1_Silent_p.N163N	p.N163N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			5	611	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	163			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.489C>T																																																																																					0.493	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		8	21	0	0	0	1	0	8	21				
NXPE1	120400	broad.mit.edu	37	11	114401308	114401308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114401308G>A	ENST00000424269.1	-	2	421	c.422C>T	c.(421-423)gCc>gTc	p.A141V	NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000536312.1_Missense_Mutation_p.A141V			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	141						extracellular region (GO:0005576)											GGACATCCTGGCCCTCAGGAA	0.567																																						ENST00000536312.1																			0											c.(421-423)gCc>gTc		neurexophilin and PC-esterase domain family, member 1							76.0	80.0	79.0					11																	114401308		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114401308G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.422C>T	11.37:g.114401308G>A	ENSP00000411690:p.Ala141Val					NXPE1_ENST00000424269.1_Missense_Mutation_p.A141V|NXPE1_ENST00000251921.2_5'UTR	p.A141V							6	1314	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.422C>T		.	.	.	.	.	.	.	.	.	.	G	27.1	4.800309	0.90538	.	.	ENSG00000095110	ENST00000424269;ENST00000536312	T;T	0.61627	2.11;0.09	4.52	4.52	0.55395	.	.	.	.	.	T	0.72993	0.3530	.	.	.	0.35650	D	0.811729	D	0.71674	0.998	D	0.67231	0.95	T	0.79369	-0.1832	8	0.45353	T	0.12	.	15.5509	0.76152	0.0:0.0:1.0:0.0	.	141	F5H6W7	.	V	141	ENSP00000411690:A141V;ENSP00000442984:A141V	ENSP00000411690:A141V	A	-	2	0	FAM55A	113906518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.839000	0.69395	2.437000	0.82529	0.655000	0.94253	GCC		0.567	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		25	30	0	0	0	1	0	25	30				
ZNF99	7652	broad.mit.edu	37	19	22940405	22940405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22940405G>T	ENST00000596209.1	-	4	2396	c.2306C>A	c.(2305-2307)gCt>gAt	p.A769D	ZNF99_ENST00000397104.3_Missense_Mutation_p.A678D|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	769					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGCTTAAAAGCTTTGCCACA	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2032-2034)gCt>gAt		zinc finger protein 99							30.0	32.0	31.0					19																	22940405		1955	4122	6077	SO:0001583	missense	7652							g.chr19:22940405G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2306C>A	19.37:g.22940405G>T	ENSP00000472969:p.Ala769Asp					ZNF99_ENST00000596209.1_Missense_Mutation_p.A769D	p.A678D							5	2032	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2033C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	1.945	-0.442532	0.04604	.	.	ENSG00000213973	ENST00000397104	T	0.08008	3.14	0.718	-0.53	0.11898	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15565	0.0375	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.17992	-1.0351	9	0.36615	T	0.2	.	3.5418	0.07814	0.0:0.227:0.3181:0.4549	.	678	A8MXY4	ZNF99_HUMAN	D	678	ENSP00000380293:A678D	ENSP00000380293:A678D	A	-	2	0	ZNF99	22732245	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	-2.691000	0.00830	-0.170000	0.10816	-1.400000	0.01143	GCT		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		10	17	1	0	5.50884e-06	1	6.28354e-06	10	17				
GABRP	2568	broad.mit.edu	37	5	170239075	170239075	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170239075A>C	ENST00000518525.1	+	11	1600	c.1136A>C	c.(1135-1137)gAc>gCc	p.D379A	GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.D379A			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	379					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACAACGTTGACTACAGTGAC	0.403																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(1135-1137)gAc>gCc		gamma-aminobutyric acid (GABA) A receptor, pi							128.0	119.0	122.0					5																	170239075		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170239075A>C	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1136A>C	5.37:g.170239075A>C	ENSP00000430100:p.Asp379Ala					GABRP_ENST00000265294.4_Missense_Mutation_p.D379A|GABRP_ENST00000519385.1_3'UTR	p.D379A			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	1600	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	379					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.1136A>C	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	A	5.799	0.331676	0.10956	.	.	ENSG00000094755	ENST00000518525;ENST00000265294	T;T	0.80994	-1.44;-1.44	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.653221	0.16920	N	0.194120	T	0.58250	0.2109	N	0.03608	-0.345	0.26184	N	0.979683	B	0.02656	0.0	B	0.01281	0.0	T	0.37934	-0.9684	10	0.08179	T	0.78	.	12.2536	0.54611	0.8582:0.1418:0.0:0.0	.	379	O00591	GBRP_HUMAN	A	379	ENSP00000430100:D379A;ENSP00000265294:D379A	ENSP00000265294:D379A	D	+	2	0	GABRP	170171653	0.987000	0.35691	0.561000	0.28357	0.152000	0.21847	2.713000	0.47194	2.187000	0.69744	0.533000	0.62120	GAC		0.403	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		33	65	0	0	0	1	0	33	65				
POLG	5428	broad.mit.edu	37	15	89871701	89871701	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89871701C>T	ENST00000268124.5	-	6	1569	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	POLG_ENST00000442287.2_Silent_p.P412P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	412					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAAGAAGAGCGGTAGCTGCT	0.602								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1234-1236)ccG>ccA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							36.0	32.0	33.0					15																	89871701		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89871701C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1236G>A	15.37:g.89871701C>T						POLG_ENST00000442287.2_Silent_p.P412P	p.P412P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		6	1569	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		412					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.1236G>A	CCDS10350.1																																																																																				0.602	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		9	17	0	0	0	1	0	9	17				
BTN2A1	11120	broad.mit.edu	37	6	26465472	26465472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26465472C>A	ENST00000312541.5	+	5	1020	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	BTN2A1_ENST00000469185.1_Missense_Mutation_p.L258M|BTN2A1_ENST00000541522.1_Missense_Mutation_p.L197M|BTN2A1_ENST00000429381.1_Missense_Mutation_p.L258M	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	258					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTGGTTATTCTGATGATACC	0.428																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(772-774)Ctg>Atg		butyrophilin, subfamily 2, member A1							158.0	156.0	156.0					6																	26465472		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465472C>A	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.772C>A	6.37:g.26465472C>A	ENSP00000312158:p.Leu258Met					BTN2A1_ENST00000469185.1_Missense_Mutation_p.L258M|BTN2A1_ENST00000312541.5_Missense_Mutation_p.L258M|BTN2A1_ENST00000541522.1_Missense_Mutation_p.L197M	p.L258M			Q7KYR7	BT2A1_HUMAN			5	984	+			258					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.772C>A	CCDS4613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.20|13.20	2.167032|2.167032	0.38217|0.38217	.|.	.|.	ENSG00000112763|ENSG00000112763	ENST00000480218|ENST00000312541;ENST00000541522;ENST00000429381;ENST00000469185	.|T;T;T;T	.|0.81415	.|-0.81;0.79;-1.49;-1.46	3.44|3.44	1.59|1.59	0.23543|0.23543	.|.	.|.	.|.	.|.	.|.	T|T	0.79399|0.79399	0.4439|0.4439	M|M	0.81239|0.81239	2.535|2.535	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.60160	.|0.977;0.966;0.987	.|P;P;P	.|0.62014	.|0.897;0.641;0.83	T|T	0.66027|0.66027	-0.6025|-0.6025	5|9	.|0.40728	.|T	.|0.16	.|.	4.9316|4.9316	0.13919|0.13919	0.0:0.7128:0.0:0.2872|0.0:0.7128:0.0:0.2872	.|.	.|197;258;258	.|B4DLP9;Q96AV7;Q7KYR7	.|.;.;BT2A1_HUMAN	L|M	6|258;197;258;258	.|ENSP00000312158:L258M;ENSP00000443909:L197M;ENSP00000416945:L258M;ENSP00000419043:L258M	.|ENSP00000312158:L258M	F|L	+|+	3|1	2|2	BTN2A1|BTN2A1	26573451|26573451	0.023000|0.023000	0.18921|0.18921	0.120000|0.120000	0.21714|0.21714	0.018000|0.018000	0.09664|0.09664	0.114000|0.114000	0.15520|0.15520	0.731000|0.731000	0.32448|0.32448	0.455000|0.455000	0.32223|0.32223	TTC|CTG		0.428	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		43	88	1	0	1.7489e-18	1	2.28119e-18	43	88				
ENPP4	22875	broad.mit.edu	37	6	46107349	46107349	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107349C>A	ENST00000321037.4	+	2	259	c.29C>A	c.(28-30)tCt>tAt	p.S10Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	10					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTTTTGTTTTCTGGACTTATA	0.343																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(28-30)tCt>tAt		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							58.0	59.0	59.0					6																	46107349		2202	4295	6497	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107349C>A	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.29C>A	6.37:g.46107349C>A	ENSP00000318066:p.Ser10Tyr						p.S10Y	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	259	+			10					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.29C>A	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	5.425	0.263581	0.10294	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.73575	-0.76	5.96	3.13	0.36017	.	5.472550	0.00166	N	0.000000	T	0.39036	0.1063	L	0.47716	1.5	0.27181	N	0.960673	B	0.02656	0.0	B	0.04013	0.001	T	0.30995	-0.9959	10	0.02654	T	1	-6.3551	4.9963	0.14242	0.2636:0.5316:0.135:0.0698	.	10	Q9Y6X5	ENPP4_HUMAN	Y	10	ENSP00000318066:S10Y	ENSP00000318066:S10Y	S	+	2	0	ENPP4	46215308	1.000000	0.71417	0.675000	0.29917	0.892000	0.51952	0.727000	0.25999	0.370000	0.24538	0.650000	0.86243	TCT		0.343	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			5	86	1	0	0.000602214	1	0.000649039	5	86				
VPS13D	55187	broad.mit.edu	37	1	12368699	12368699	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12368699G>A	ENST00000358136.3	+	27	6780		c.e27+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTGGACAAGTGAGTGtttt	0.488																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.e27+1		vacuolar protein sorting 13 homolog D (S. cerevisiae)							80.0	81.0	80.0					1																	12368699		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12368699G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6650+1G>A	1.37:g.12368699G>A						VPS13D_ENST00000356315.4_Splice_Site		NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6780	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)							Splice_Site	SNP	ENST00000358136.3	37		CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050480	0.93740	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0956	0.97842	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12291286	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.175000	0.94831	2.746000	0.94184	0.650000	0.86243	.		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	5	49	0	0	0	1	0	5	49				
HMHA1	23526	broad.mit.edu	37	19	1080929	1080929	+	Missense_Mutation	SNP	G	G	A	rs370399922		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1080929G>A	ENST00000313093.2	+	17	2287	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	HMHA1_ENST00000590577.1_Missense_Mutation_p.V321M|HMHA1_ENST00000543365.1_Missense_Mutation_p.V569M|HMHA1_ENST00000539243.2_Missense_Mutation_p.V702M|HMHA1_ENST00000536472.1_Missense_Mutation_p.V554M|HMHA1_ENST00000590214.1_Missense_Mutation_p.V713M|HMHA1_ENST00000586866.1_Missense_Mutation_p.V690M	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	686					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGTGGCCGTGCCCAGTGG	0.706																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2056-2058)Gtg>Atg		histocompatibility (minor) HA-1		G	MET/VAL	1,4387		0,1,2193	14.0	16.0	16.0		2056	-2.1	0.1	19		16	0,8576		0,0,4288	no	missense	HMHA1	NM_012292.2	21	0,1,6481	AA,AG,GG		0.0,0.0228,0.0077	benign	686/1137	1080929	1,12963	2194	4288	6482	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080929G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2056G>A	19.37:g.1080929G>A	ENSP00000316772:p.Val686Met					HMHA1_ENST00000543365.1_Missense_Mutation_p.V569M|HMHA1_ENST00000536472.1_Missense_Mutation_p.V554M|HMHA1_ENST00000590577.1_Missense_Mutation_p.V321M|HMHA1_ENST00000586866.1_Missense_Mutation_p.V690M|HMHA1_ENST00000539243.2_Missense_Mutation_p.V702M|HMHA1_ENST00000590214.1_Missense_Mutation_p.V713M	p.V686M	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2287	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	686					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2056G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	4.306	0.056109	0.08291	2.28E-4	0.0	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.22336	1.99;1.99;1.97;1.96	3.33	-2.13	0.07144	.	0.409080	0.23849	N	0.043970	T	0.05502	0.0145	N	0.12182	0.205	0.20307	N	0.999911	P;P;B;P;B	0.45044	0.849;0.474;0.403;0.72;0.088	B;B;B;B;B	0.30179	0.112;0.047;0.042;0.075;0.014	T	0.37526	-0.9702	10	0.34782	T	0.22	-11.299	0.9875	0.01449	0.3062:0.1534:0.3842:0.1562	.	554;702;321;569;686	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	M	702;686;686;554;680;569	ENSP00000439601:V702M;ENSP00000316772:V686M;ENSP00000445109:V554M;ENSP00000438979:V569M	ENSP00000316772:V686M	V	+	1	0	HMHA1	1031929	0.000000	0.05858	0.120000	0.21714	0.181000	0.23173	-1.110000	0.03306	-0.409000	0.07553	-0.339000	0.08088	GTG		0.706	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			3	10	0	0	0	1	0	3	10				
UBE3D	90025	broad.mit.edu	37	6	83667135	83667135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83667135G>T	ENST00000369747.3	-	9	1167	c.1045C>A	c.(1045-1047)Cac>Aac	p.H349N		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	349					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										GTTAGCGGGTGGACGCTGATG	0.428																																						ENST00000369747.3																			0											c.(1045-1047)Cac>Aac		ubiquitin protein ligase E3D							118.0	98.0	105.0					6																	83667135		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83667135G>T	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1045C>A	6.37:g.83667135G>T	ENSP00000358762:p.His349Asn						p.H349N	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN			9	1167	-			349					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.1045C>A	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946292	0.73672	.	.	ENSG00000118420	ENST00000369747	T	0.30714	1.52	5.39	5.39	0.77823	.	0.094025	0.64402	D	0.000001	T	0.46718	0.1407	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.31280	-0.9949	10	0.30854	T	0.27	-12.7134	16.0649	0.80863	0.0:0.0:1.0:0.0	.	349	Q7Z6J8	UB2CB_HUMAN	N	349	ENSP00000358762:H349N	ENSP00000358762:H349N	H	-	1	0	UBE2CBP	83723854	1.000000	0.71417	0.978000	0.43139	0.876000	0.50452	5.397000	0.66302	2.525000	0.85131	0.462000	0.41574	CAC		0.428	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		6	45	1	0	8.12818e-05	1	8.99451e-05	6	45				
ACAN	176	broad.mit.edu	37	15	89402488	89402488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89402488G>T	ENST00000561243.1	+	11	6672	c.6672G>T	c.(6670-6672)caG>caT	p.Q2224H	ACAN_ENST00000352105.7_Missense_Mutation_p.Q2224H|ACAN_ENST00000439576.2_Missense_Mutation_p.Q2224H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q2224H			P16112	PGCA_HUMAN	aggrecan	2109	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGACCCAGCAGACCCAGC	0.567																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6670-6672)caG>caT		aggrecan							37.0	42.0	40.0					15																	89402488		2110	4238	6348	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402488G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6672G>T	15.37:g.89402488G>T	ENSP00000453342:p.Gln2224His					ACAN_ENST00000352105.7_Missense_Mutation_p.Q2224H|ACAN_ENST00000561243.1_Missense_Mutation_p.Q2224H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q2224H	p.Q2224H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	7046	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2224					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6672G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678960	0.29783	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02369	4.54;4.32	5.27	2.15	0.27550	.	1.124590	0.07119	N	0.843585	T	0.08088	0.0202	L	0.47716	1.5	0.09310	N	1	B;D	0.65815	0.339;0.995	B;D	0.65773	0.134;0.938	T	0.39333	-0.9619	10	0.48119	T	0.1	-0.778	3.4546	0.07511	0.1634:0.1268:0.5653:0.1445	.	2224;2224	E7ENV9;E7EX88	.;.	H	2224;2224;2110	ENSP00000387356:Q2224H;ENSP00000341615:Q2224H	ENSP00000268134:Q2110H	Q	+	3	2	ACAN	87203492	0.688000	0.27680	0.029000	0.17559	0.818000	0.46254	1.072000	0.30678	1.227000	0.43598	0.555000	0.69702	CAG		0.567	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	25	1	0	0.014758	1	0.0152625	4	25				
PLEKHA8P1	51054	broad.mit.edu	37	12	45567556	45567556	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45567556G>A	ENST00000256692.5	-	0	1129					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGTGTTCATGGTACTAAAGAA	0.433																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26															241.0	215.0	224.0					12																	45567556		2203	4300	6503			0							g.chr12:45567556G>A	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567556G>A								NR_037144.1						0	1129	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.433	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		61	112	0	0	0	1	0	61	112				
MED12	9968	broad.mit.edu	37	X	70344032	70344032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70344032C>T	ENST00000374080.3	+	13	1800	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	MED12_ENST00000333646.6_Missense_Mutation_p.R590W|MED12_ENST00000374102.1_Missense_Mutation_p.R590W			Q93074	MED12_HUMAN	mediator complex subunit 12	590					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAGAGTGAGCGGGTGGAATT	0.473			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1768-1770)Cgg>Tgg		mediator complex subunit 12							88.0	78.0	81.0					X																	70344032		1920	4111	6031	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70344032C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1768C>T	X.37:g.70344032C>T	ENSP00000363193:p.Arg590Trp					MED12_ENST00000374102.1_Missense_Mutation_p.R590W|MED12_ENST00000374080.3_Missense_Mutation_p.R590W	p.R590W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			13	1967	+	Renal(35;0.156)		590					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1768C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.66	3.672095	0.67928	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.5	3.56	0.40772	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.142729	0.45867	D	0.000325	T	0.53334	0.1790	M	0.65498	2.005	0.49389	D	0.999781	D;D;D;D	0.76494	0.995;0.999;0.999;0.998	P;P;D;D	0.66716	0.877;0.875;0.946;0.925	T	0.57688	-0.7768	10	0.87932	D	0	-15.6622	10.9203	0.47161	0.281:0.719:0.0:0.0	.	590;437;590;590	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	W	590;590;590;590;558	ENSP00000333125:R590W;ENSP00000363215:R590W;ENSP00000363193:R590W;ENSP00000414203:R558W	ENSP00000333125:R590W	R	+	1	2	MED12	70260757	1.000000	0.71417	0.942000	0.38095	0.984000	0.73092	3.476000	0.53143	2.070000	0.61991	0.422000	0.28245	CGG		0.473	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	48	0	0	0	1	0	4	48				
KDM4A	9682	broad.mit.edu	37	1	44121425	44121425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44121425C>A	ENST00000372396.3	+	3	436	c.302C>A	c.(301-303)gCc>gAc	p.A101D	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	101					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGCAAGATAGCCAATAGCGAT	0.517																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(301-303)gCc>gAc		lysine (K)-specific demethylase 4A							77.0	66.0	70.0					1																	44121425		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44121425C>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.302C>A	1.37:g.44121425C>A	ENSP00000361473:p.Ala101Asp					KDM4A_ENST00000463151.1_3'UTR	p.A101D	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			3	436	+			101					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.302C>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778840	0.90195	.	.	ENSG00000066135	ENST00000372396	T	0.47869	0.83	5.2	5.2	0.72013	.	0.097905	0.64402	D	0.000001	T	0.77343	0.4116	M	0.93150	3.385	0.80722	D	1	D;P	0.57899	0.981;0.523	D;P	0.70487	0.969;0.756	D	0.83628	0.0143	10	0.66056	D	0.02	-9.6482	18.7449	0.91788	0.0:1.0:0.0:0.0	.	101;101	B4DT38;O75164	.;KDM4A_HUMAN	D	101	ENSP00000361473:A101D	ENSP00000361473:A101D	A	+	2	0	KDM4A	43894012	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.808000	0.86044	2.443000	0.82685	0.557000	0.71058	GCC		0.517	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		9	13	1	0	1.12685e-05	1	1.27857e-05	9	13				
TMCC2	9911	broad.mit.edu	37	1	205238741	205238741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205238741C>A	ENST00000358024.3	+	3	1800	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	TMCC2_ENST00000330675.7_Missense_Mutation_p.P246T|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.P393T|TMCC2_ENST00000329800.7_Missense_Mutation_p.P231T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	471						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCAGCCCCAAGTATGG	0.692																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1411-1413)Ccc>Acc		transmembrane and coiled-coil domain family 2							34.0	40.0	38.0					1																	205238741		2203	4299	6502	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205238741C>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1411C>A	1.37:g.205238741C>A	ENSP00000350718:p.Pro471Thr					TMCC2_ENST00000329800.7_Missense_Mutation_p.P231T|TMCC2_ENST00000330675.7_Missense_Mutation_p.P246T|TMCC2_ENST00000545499.1_Missense_Mutation_p.P393T|TMCC2_ENST00000495538.1_3'UTR	p.P471T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1800	+	Breast(84;0.0871)		471					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.1411C>A	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499736	0.64298	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.82	4.91	0.64330	.	0.046753	0.85682	D	0.000000	T	0.62490	0.2432	M	0.64997	1.995	0.80722	D	1	D;D;D;B	0.69078	0.995;0.996;0.997;0.437	D;D;D;P	0.67725	0.953;0.921;0.953;0.579	T	0.59643	-0.7416	10	0.23302	T	0.38	.	14.5599	0.68128	0.0:0.9292:0.0:0.0708	.	267;231;246;471	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	T	471;393;246;231	ENSP00000350718:P471T;ENSP00000437943:P393T;ENSP00000331842:P246T;ENSP00000329436:P231T	ENSP00000329436:P231T	P	+	1	0	TMCC2	203505364	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.767000	0.85331	1.468000	0.48064	0.561000	0.74099	CCC		0.692	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		5	63	1	0	0.0215528	1	0.0221649	5	63				
FAM65A	79567	broad.mit.edu	37	16	67579727	67579727	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67579727C>T	ENST00000379312.3	+	19	3484	c.3363C>T	c.(3361-3363)ctC>ctT	p.L1121L	FAM65A_ENST00000422602.2_Silent_p.L1137L|FAM65A_ENST00000042381.4_Silent_p.L1117L|FAM65A_ENST00000428437.2_Silent_p.L1131L|FAM65A_ENST00000540839.3_Silent_p.L1136L|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1121						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCACCCAGCTCCGGAGCCTGT	0.672																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(3406-3408)ctC>ctT		family with sequence similarity 65, member A							45.0	52.0	50.0					16																	67579727		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67579727C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3363C>T	16.37:g.67579727C>T						FAM65A_ENST00000042381.4_Silent_p.L1117L|FAM65A_ENST00000422602.2_Silent_p.L1137L|FAM65A_ENST00000428437.2_Silent_p.L1131L|FAM65A_ENST00000379312.3_Silent_p.L1121L	p.L1136L			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	20	3628	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1121					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.3408C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774622	0.16051	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.58	-0.459	0.12179	.	.	.	.	.	T	0.51261	0.1664	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42531	-0.9446	4	.	.	.	-20.2786	6.1511	0.20313	0.0:0.3625:0.3434:0.2941	.	.	.	.	S	1111	.	.	P	+	1	0	FAM65A	66137228	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.502000	0.22594	0.288000	0.22398	0.655000	0.94253	CCG		0.672	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		22	16	0	0	0	1	0	22	16				
FAM83D	81610	broad.mit.edu	37	20	37570622	37570622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37570622C>T	ENST00000217429.4	+	2	635	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	168					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGTCATGGACGTGTTCACAG	0.488																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(592-594)gaC>gaT		family with sequence similarity 83, member D							165.0	167.0	166.0					20																	37570622		2046	4185	6231	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37570622C>T	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.594C>T	20.37:g.37570622C>T							p.D198D	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			2	635	+		Myeloproliferative disorder(115;0.00878)	168					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.594C>T	CCDS42872.1																																																																																				0.488	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			5	96	0	0	0	1	0	5	96				
LRRC48	83450	broad.mit.edu	37	17	17896109	17896109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17896109C>T	ENST00000399187.1	+	6	693	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	LRRC48_ENST00000313838.8_Missense_Mutation_p.R159W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R159W|LRRC48_ENST00000584166.1_Missense_Mutation_p.R159W|LRRC48_ENST00000399182.1_Missense_Mutation_p.R159W	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	159			R -> Q (in dbSNP:rs8072048).			cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAAGTGCCTGCGGACGCTCAG	0.542																																						ENST00000313838.8																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(475-477)Cgg>Tgg		leucine rich repeat containing 48							59.0	59.0	59.0					17																	17896109		2032	4167	6199	SO:0001583	missense	83450					cytoplasm		g.chr17:17896109C>T	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.475C>T	17.37:g.17896109C>T	ENSP00000382140:p.Arg159Trp					LRRC48_ENST00000584166.1_Missense_Mutation_p.R159W|LRRC48_ENST00000399187.1_Missense_Mutation_p.R159W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R159W|LRRC48_ENST00000399182.1_Missense_Mutation_p.R159W	p.R159W	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN			7	854	+	all_neural(463;0.228)		159		R -> Q (in dbSNP:rs8072048).			A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.475C>T	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337952	0.41398	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.02	1.81	0.25067	.	0.291794	0.38272	N	0.001746	T	0.78679	0.4321	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.951;0.967	T	0.83072	-0.0142	10	0.72032	D	0.01	-29.2293	13.0184	0.58771	0.4227:0.5773:0.0:0.0	.	159;159	Q9H069;Q9H069-2	LRC48_HUMAN;.	W	159	ENSP00000326870:R159W;ENSP00000394020:R159W;ENSP00000382140:R159W;ENSP00000382136:R159W	ENSP00000326870:R159W	R	+	1	2	LRRC48	17836834	1.000000	0.71417	0.823000	0.32752	0.109000	0.19521	2.250000	0.43178	0.134000	0.18681	-0.311000	0.09066	CGG		0.542	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		6	18	0	0	0	1	0	6	18				
NT5C	30833	broad.mit.edu	37	17	73126698	73126698	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73126698G>T	ENST00000245552.2	-	5	578	c.491C>A	c.(490-492)aCc>aAc	p.T164N	NT5C_ENST00000582170.1_Missense_Mutation_p.H162Q|NT5C_ENST00000579082.1_5'Flank|NT5C_ENST00000582160.1_Missense_Mutation_p.T78N|NT5C_ENST00000578337.1_3'UTR	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	164					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	GTGGCAGCAGGTGAACAAGAT	0.577											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245552.2																			0											c.(490-492)aCc>aAc		5', 3'-nucleotidase, cytosolic							68.0	64.0	65.0					17																	73126698		2203	4300	6503	SO:0001583	missense	30833				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding	g.chr17:73126698G>T	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"""5' nucleotidase, deoxy (pyrimidine), cytosolic type C"", ""uridine 5-prime monophosphate hydrolase 2"""	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.491C>A	17.37:g.73126698G>T	ENSP00000245552:p.Thr164Asn		OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	NT5C_ENST00000582160.1_Missense_Mutation_p.T78N|NT5C_ENST00000578337.1_3'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.H162Q	p.T164N	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	578	-	all_lung(278;0.14)|Lung NSC(278;0.168)		164					Q96HS6|Q9NP82	Missense_Mutation	SNP	ENST00000245552.2	37	c.491C>A	CCDS11715.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977900	0.53720	.	.	ENSG00000125458	ENST00000245552	T	0.46451	0.87	4.74	4.74	0.60224	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.82323	2.585	0.80722	D	1	D	0.56521	0.976	P	0.60682	0.878	T	0.63703	-0.6577	10	0.31617	T	0.26	-27.1013	17.017	0.86422	0.0:0.0:1.0:0.0	.	164	Q8TCD5	NT5C_HUMAN	N	164	ENSP00000245552:T164N	ENSP00000245552:T164N	T	-	2	0	NT5C	70638293	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.698000	0.74608	2.619000	0.88677	0.561000	0.74099	ACC		0.577	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			19	43	1	0	1.01871e-10	1	1.25892e-10	19	43				
AHNAK2	113146	broad.mit.edu	37	14	105419259	105419259	+	Silent	SNP	G	G	A	rs566656799	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105419259G>A	ENST00000333244.5	-	7	2648	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	843						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCGAATGATGGCA	0.617													.|||	3	0.000599042	0.0023	0.0	5008	,	,		18885	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2527-2529)ttC>ttT		AHNAK nucleoprotein 2							230.0	254.0	246.0					14																	105419259		1941	4141	6082	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419259G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2529C>T	14.37:g.105419259G>A						AHNAK2_ENST00000557457.1_Intron	p.F843F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2648	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	843					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2529C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		100	222	0	0	0	1	0	100	222				
KCNT2	343450	broad.mit.edu	37	1	196288613	196288613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196288613C>T	ENST00000294725.9	-	20	3264		c.e20+1		KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367433.5_Intron|KCNT2_ENST00000609185.1_Intron|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000498426.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGTCACCTACTTGTCAATAG	0.418																																						ENST00000294725.8																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e20+1		potassium channel, subfamily T, member 2							135.0	120.0	125.0					1																	196288613		2203	4300	6503	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196288613C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2348+1G>A	1.37:g.196288613C>T						KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000367433.5_Intron|KCNT2_ENST00000498426.1_Intron		NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN			20	2408	-								Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37		CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964840	0.92791	.	.	ENSG00000162687	ENST00000294725	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1099	0.97909	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194555236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.611000	0.82962	2.753000	0.94483	0.585000	0.79938	.		0.418	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	11	39	0	0	0	1	0	11	39				
KIDINS220	57498	broad.mit.edu	37	2	8871439	8871439	+	Missense_Mutation	SNP	G	G	A	rs202036173		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8871439G>A	ENST00000256707.3	-	30	4908	c.4727C>T	c.(4726-4728)gCg>gTg	p.A1576V	KIDINS220_ENST00000473731.1_Missense_Mutation_p.A1557V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A1477V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A1557V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1576					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.A1576V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCAAGGAGCGCATCCGATAA	0.473																																						ENST00000256707.3																			1	Substitution - Missense(1)	p.A1576V(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(4726-4728)gCg>gTg		kinase D-interacting substrate, 220kDa		G	VAL/ALA	0,3956		0,0,1978	132.0	128.0	129.0		4727	5.9	0.4	2		129	1,8347		0,1,4173	yes	missense	KIDINS220	NM_020738.2	64	0,1,6151	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	1576/1772	8871439	1,12303	1978	4174	6152	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871439G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4727C>T	2.37:g.8871439G>A	ENSP00000256707:p.Ala1576Val					KIDINS220_ENST00000418530.1_Missense_Mutation_p.A1477V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A1557V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A1557V	p.A1576V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	4908	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1576					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4727C>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364519	0.61513	0.0	1.2E-4	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.68624	-0.34;-0.33;-0.34;-0.33	5.92	5.92	0.95590	.	0.227294	0.45867	D	0.000338	T	0.75125	0.3807	L	0.27053	0.805	0.43334	D	0.995373	P;P;D	0.89917	0.872;0.919;1.0	B;B;D	0.91635	0.282;0.146;0.999	T	0.76623	-0.2891	10	0.66056	D	0.02	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1477;1576;430	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	V	1576;1557;1477;1557	ENSP00000256707:A1576V;ENSP00000411849:A1557V;ENSP00000414923:A1477V;ENSP00000418974:A1557V	ENSP00000256707:A1576V	A	-	2	0	KIDINS220	8788890	1.000000	0.71417	0.388000	0.26195	0.768000	0.43524	4.254000	0.58798	2.804000	0.96469	0.655000	0.94253	GCG		0.473	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		4	91	0	0	0	1	0	4	91				
SLC8A2	6543	broad.mit.edu	37	19	47960708	47960708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47960708C>T	ENST00000236877.6	-	3	1214	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC8A2_ENST00000542837.1_Silent_p.E29E|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	273					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GGGGGTCGCCCTCGGCGCCTA	0.701																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(817-819)gaG>gaA		solute carrier family 8 (sodium/calcium exchanger), member 2							14.0	21.0	19.0					19																	47960708		2197	4293	6490	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47960708C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.819G>A	19.37:g.47960708C>T						SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Silent_p.E29E	p.E273E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	3	1214	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	273					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.819G>A	CCDS33065.1																																																																																				0.701	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			6	3	0	0	0	1	0	6	3				
PTPRO	5800	broad.mit.edu	37	12	15654589	15654589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15654589G>A	ENST00000281171.4	+	5	1027	c.697G>A	c.(697-699)Gta>Ata	p.V233I	PTPRO_ENST00000348962.2_Missense_Mutation_p.V233I|PTPRO_ENST00000543886.1_Missense_Mutation_p.V233I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	233					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.V233I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCGTATCGTAAACTTGAA	0.338																																						ENST00000281171.4																			1	Substitution - Missense(1)	p.V233I(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(697-699)Gta>Ata		protein tyrosine phosphatase, receptor type, O							52.0	53.0	53.0					12																	15654589		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654589G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.697G>A	12.37:g.15654589G>A	ENSP00000281171:p.Val233Ile					PTPRO_ENST00000543886.1_Missense_Mutation_p.V233I|PTPRO_ENST00000348962.2_Missense_Mutation_p.V233I	p.V233I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			5	1027	+		Hepatocellular(102;0.244)	233					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.697G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029460	0.19512	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04049	3.72;3.73	4.6	0.678	0.17969	.	0.377447	0.18908	N	0.127860	T	0.02047	0.0064	N	0.03608	-0.345	0.53005	D	0.999968	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.50311	-0.8843	10	0.45353	T	0.12	.	5.4273	0.16433	0.3631:0.0:0.5124:0.1245	.	233;233;233	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	233	ENSP00000281171:V233I;ENSP00000343434:V233I	ENSP00000281171:V233I	V	+	1	0	PTPRO	15545856	0.924000	0.31332	0.940000	0.37924	0.972000	0.66771	0.456000	0.21859	0.206000	0.20587	0.585000	0.79938	GTA		0.338	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			23	36	0	0	0	1	0	23	36				
ERI3	79033	broad.mit.edu	37	1	44774067	44774067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44774067C>T	ENST00000372257.2	-	6	854	c.673G>A	c.(673-675)Gat>Aat	p.D225N	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Missense_Mutation_p.D48N|ERI3_ENST00000372259.5_Missense_Mutation_p.D110N	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	225	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCATTCATCGACCCTCTGA	0.423																																						ENST00000372257.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(673-675)Gat>Aat		ERI1 exoribonuclease family member 3							192.0	205.0	201.0					1																	44774067		2203	4300	6503	SO:0001583	missense	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44774067C>T	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.673G>A	1.37:g.44774067C>T	ENSP00000361331:p.Asp225Asn					ERI3_ENST00000537474.1_Missense_Mutation_p.D48N|ERI3_ENST00000372259.5_Missense_Mutation_p.D110N|ERI3_ENST00000495828.1_5'UTR	p.D225N	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN			6	854	-			225			Exonuclease.		B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	c.673G>A	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189258	0.57909	.	.	ENSG00000117419	ENST00000372257;ENST00000372259;ENST00000456170;ENST00000537474;ENST00000433471;ENST00000372253;ENST00000452396;ENST00000457571	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.33	5.33	0.75918	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.159580	0.42964	D	0.000639	T	0.22166	0.0534	L	0.43701	1.375	0.58432	D	0.999993	B;B;B	0.30686	0.259;0.29;0.193	B;B;B	0.29942	0.074;0.068;0.109	T	0.02294	-1.1181	10	0.30854	T	0.27	.	19.0084	0.92861	0.0:1.0:0.0:0.0	.	223;147;225	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	N	225;110;64;48;107;91;107;223	ENSP00000361331:D225N;ENSP00000361333:D110N;ENSP00000390710:D64N;ENSP00000438360:D48N;ENSP00000396764:D107N;ENSP00000412291:D223N	ENSP00000361327:D91N	D	-	1	0	ERI3	44546654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.834000	0.48167	2.489000	0.83994	0.655000	0.94253	GAT		0.423	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		97	136	0	0	0	1	0	97	136				
POLD1	5424	broad.mit.edu	37	19	50918728	50918728	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50918728C>T	ENST00000440232.2	+	21	2651	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Silent_p.D892D|POLD1_ENST00000599857.1_Silent_p.D866D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	866					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCACAGGACGTCATCTCGG	0.662								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2596-2598)gaC>gaT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							42.0	34.0	37.0					19																	50918728		2201	4299	6500	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918728C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2598C>T	19.37:g.50918728C>T						POLD1_ENST00000599857.1_Silent_p.D866D|POLD1_ENST00000595904.1_Silent_p.D892D	p.D866D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	21	2651	+		all_neural(266;0.0571)	866					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.2598C>T	CCDS12795.1																																																																																				0.662	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			13	22	0	0	0	1	0	13	22				
RAP2C	57826	broad.mit.edu	37	X	131348449	131348449	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131348449A>G	ENST00000342983.2	-	3	1045	c.299T>C	c.(298-300)aTt>aCt	p.I100T	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.I100T|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	100					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CACTCTGACAATTTGATCTCT	0.348																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(298-300)aTt>aCt		RAP2C, member of RAS oncogene family							71.0	57.0	62.0					X																	131348449		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348449A>G	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.299T>C	X.37:g.131348449A>G	ENSP00000340274:p.Ile100Thr					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.I100T	p.I100T	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			3	1045	-	Acute lymphoblastic leukemia(192;0.000127)		100					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.299T>C	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056811	0.76074	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.80393	-1.37;-1.37	5.44	5.44	0.79542	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.93594	3.435	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.93964	0.7243	10	0.87932	D	0	.	14.5487	0.68050	1.0:0.0:0.0:0.0	.	100	Q9Y3L5	RAP2C_HUMAN	T	100	ENSP00000340274:I100T;ENSP00000359911:I100T	ENSP00000340274:I100T	I	-	2	0	RAP2C	131176130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.930000	0.92872	1.816000	0.52996	0.486000	0.48141	ATT		0.348	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		4	40	0	0	0	1	0	4	40				
TMEM209	84928	broad.mit.edu	37	7	129841754	129841754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129841754G>A	ENST00000397622.2	-	5	631	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TMEM209_ENST00000336804.8_Missense_Mutation_p.S169F|TMEM209_ENST00000462753.1_Missense_Mutation_p.S169F|TMEM209_ENST00000473456.1_Missense_Mutation_p.S170F|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	170	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCCACCTGAGGACAGACCTTG	0.493																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(508-510)tCc>tTc		transmembrane protein 209							70.0	70.0	70.0					7																	129841754		2010	4188	6198	SO:0001583	missense	84928					integral to membrane		g.chr7:129841754G>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.509C>T	7.37:g.129841754G>A	ENSP00000380747:p.Ser170Phe					TMEM209_ENST00000462753.1_Missense_Mutation_p.S169F|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Missense_Mutation_p.S170F|TMEM209_ENST00000336804.8_Missense_Mutation_p.S169F	p.S170F	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN			5	631	-	Melanoma(18;0.0435)		170			Ser-rich.		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.509C>T	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805218	0.70682	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249	T;T;T;T	0.38887	1.27;1.27;1.11;1.11	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	L	0.27053	0.805	0.47659	D	0.99948	P;D;B	0.61697	0.946;0.99;0.174	P;D;B	0.63192	0.528;0.912;0.058	T	0.49542	-0.8929	10	0.54805	T	0.06	-18.0858	17.1485	0.86772	0.0:0.0:1.0:0.0	.	170;170;170	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	F	170;169;170;169;170	ENSP00000380747:S170F;ENSP00000419697:S169F;ENSP00000417258:S170F;ENSP00000338388:S169F	ENSP00000338388:S169F	S	-	2	0	TMEM209	129628990	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	5.878000	0.69682	2.729000	0.93468	0.467000	0.42956	TCC		0.493	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		11	38	0	0	0	1	0	11	38				
SLC5A3	6526	broad.mit.edu	37	21	35468959	35468959	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468959G>A	ENST00000381151.3	+	2	1974	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC5A3_ENST00000608209.1_Missense_Mutation_p.A488T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	488					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTTGATACTGGCCTTTGCCTA	0.488																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1462-1464)Gcc>Acc		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							101.0	93.0	96.0					21																	35468959		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468959G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1462G>A	21.37:g.35468959G>A	ENSP00000370543:p.Ala488Thr					MRPS6_ENST00000399312.2_Intron	p.A488T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1974	+			488					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1462G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130892	0.56828	.	.	ENSG00000198743	ENST00000381151	T	0.62788	0.0	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	N	0.14661	0.345	0.41692	D	0.989358	B	0.20671	0.047	B	0.13407	0.009	T	0.46219	-0.9207	10	0.62326	D	0.03	.	18.8128	0.92064	0.0:0.0:1.0:0.0	.	488	P53794	SC5A3_HUMAN	T	488	ENSP00000370543:A488T	ENSP00000370543:A488T	A	+	1	0	SLC5A3	34390829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.831000	0.99420	2.751000	0.94390	0.650000	0.86243	GCC		0.488	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			33	59	0	0	0	1	0	33	59				
GPRIN3	285513	broad.mit.edu	37	4	90170998	90170998	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90170998C>T	ENST00000609438.1	-	2	782	c.264G>A	c.(262-264)caG>caA	p.Q88Q	GPRIN3_ENST00000333209.4_Silent_p.Q88Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	88										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGTGCTTTCTGCACTTCAT	0.582																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(262-264)caG>caA		GPRIN family member 3							86.0	90.0	88.0					4																	90170998		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90170998C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.264G>A	4.37:g.90170998C>T							p.Q88Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	782	-		Hepatocellular(203;0.114)	88					Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.264G>A	CCDS34030.1																																																																																				0.582	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		5	84	0	0	0	1	0	5	84				
PRKCI	5584	broad.mit.edu	37	3	169977800	169977800	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169977800C>A	ENST00000295797.4	+	3	572	c.267C>A	c.(265-267)gcC>gcA	p.A89A		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	89	Interaction with PARD6A.|OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TAGAAGAAGCCTTTAGACTTT	0.353																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(265-267)gcC>gcA		protein kinase C, iota							140.0	134.0	136.0					3																	169977800		2203	4298	6501	SO:0001819	synonymous_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169977800C>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.267C>A	3.37:g.169977800C>A							p.A89A	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	572	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		89			Interaction with PARD6A.|OPR.|Regulatory domain.		D3DNQ4|Q8WW06	Silent	SNP	ENST00000295797.4	37	c.267C>A	CCDS3212.2																																																																																				0.353	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		8	65	1	0	3.09899e-07	1	3.63227e-07	8	65				
USP9X	8239	broad.mit.edu	37	X	41048650	41048650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048650C>A	ENST00000324545.8	+	26	4532	c.3899C>A	c.(3898-3900)cCa>cAa	p.P1300Q	USP9X_ENST00000378308.2_Missense_Mutation_p.P1300Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1300					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCTTGATTCCAACAGCCTTA	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3898-3900)cCa>cAa		ubiquitin specific peptidase 9, X-linked							163.0	145.0	151.0					X																	41048650		2200	4300	6500	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41048650C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3899C>A	X.37:g.41048650C>A	ENSP00000316357:p.Pro1300Gln					USP9X_ENST00000378308.2_Missense_Mutation_p.P1300Q	p.P1300Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			26	4532	+			1300					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.3899C>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904086	0.92035	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.70399	-0.48;-0.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83501	0.5268	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.959	T	0.82236	-0.0557	10	0.35671	T	0.21	.	18.5094	0.90910	0.0:1.0:0.0:0.0	.	1300;1300	Q93008-1;Q93008	.;USP9X_HUMAN	Q	1300	ENSP00000367558:P1300Q;ENSP00000316357:P1300Q	ENSP00000316357:P1300Q	P	+	2	0	USP9X	40933594	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.463000	0.80869	2.314000	0.78098	0.415000	0.27848	CCA		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		9	78	1	0	0.000274275	1	0.000298791	9	78				
GBE1	2632	broad.mit.edu	37	3	81584433	81584433	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:81584433A>G	ENST00000429644.2	-	14	2490	c.1847T>C	c.(1846-1848)tTt>tCt	p.F616S	GBE1_ENST00000489715.1_Missense_Mutation_p.F575S	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	616					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGCTCTTTCAAAAGCAATGAT	0.388									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1846-1848)tTt>tCt		glucan (1,4-alpha-), branching enzyme 1							114.0	114.0	114.0					3																	81584433		1969	4169	6138	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81584433A>G		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1847T>C	3.37:g.81584433A>G	ENSP00000410833:p.Phe616Ser					GBE1_ENST00000489715.1_Missense_Mutation_p.F575S	p.F616S	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	14	2490	-		Lung NSC(201;0.0117)	616					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.1847T>C	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148142	0.57151	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.88509	-2.39;-2.39	5.55	5.55	0.83447	Alpha-amylase, C-terminal all beta (1);Glycosyl hydrolase, family 13, all-beta (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	H	0.97365	3.99	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.99;0.995	D	0.98047	1.0385	10	0.87932	D	0	-26.0949	15.6987	0.77521	1.0:0.0:0.0:0.0	.	575;616	E9PGM4;Q04446	.;GLGB_HUMAN	S	616;667;575;379	ENSP00000410833:F616S;ENSP00000419638:F575S	ENSP00000264326:F667S	F	-	2	0	GBE1	81667123	1.000000	0.71417	0.995000	0.50966	0.013000	0.08279	8.844000	0.92147	2.115000	0.64714	0.482000	0.46254	TTT		0.388	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			4	44	0	0	0	1	0	4	44				
CPEB4	80315	broad.mit.edu	37	5	173380103	173380103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173380103C>T	ENST00000265085.5	+	9	3244	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	CPEB4_ENST00000522336.1_Missense_Mutation_p.A207V|CPEB4_ENST00000520867.1_Missense_Mutation_p.A572V|CPEB4_ENST00000517880.1_Missense_Mutation_p.A190V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A580V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A572V|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	597	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGGAGCTTGCGATGATAATG	0.433																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1789-1791)gCg>gTg		cytoplasmic polyadenylation element binding protein 4							162.0	171.0	168.0					5																	173380103		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173380103C>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1790C>T	5.37:g.173380103C>T	ENSP00000265085:p.Ala597Val					CPEB4_ENST00000520867.1_Missense_Mutation_p.A572V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A580V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A572V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.A207V|CPEB4_ENST00000517880.1_Missense_Mutation_p.A190V	p.A597V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		9	3244	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	597			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1790C>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	36	5.671727	0.96754	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	5.6	5.6	0.85130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.999	D;D;D;D;D	0.77004	0.932;0.95;0.915;0.989;0.95	T	0.43766	-0.9371	10	0.87932	D	0	-10.4148	19.9801	0.97322	0.0:1.0:0.0:0.0	.	572;580;572;207;597	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	V	597;572;580;572;207;190	ENSP00000265085:A597V;ENSP00000429092:A572V;ENSP00000334533:A580V;ENSP00000429048:A572V;ENSP00000430345:A207V;ENSP00000427990:A190V	ENSP00000265085:A597V	A	+	2	0	CPEB4	173312709	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	GCG		0.433	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		20	141	0	0	0	1	0	20	141				
CACNA1C	775	broad.mit.edu	37	12	2774794	2774794	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2774794G>A	ENST00000347598.4	+	38	4590	c.4590G>A	c.(4588-4590)ctG>ctA	p.L1530L	CACNA1C_ENST00000399638.1_Silent_p.L1510L|CACNA1C_ENST00000399601.1_Silent_p.L1482L|CACNA1C_ENST00000399621.1_Silent_p.L1482L|CACNA1C_ENST00000335762.5_Silent_p.L1507L|CACNA1C_ENST00000399595.1_Silent_p.L1471L|CACNA1C_ENST00000406454.3_Silent_p.L1482L|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399617.1_Silent_p.L1482L|CACNA1C_ENST00000399644.1_Silent_p.L1482L|CACNA1C_ENST00000399629.1_Silent_p.L1499L|CACNA1C_ENST00000327702.7_Silent_p.L1482L|CACNA1C_ENST00000399649.1_Silent_p.L1469L|CACNA1C_ENST00000402845.3_Silent_p.L1482L|CACNA1C_ENST00000399603.1_Silent_p.L1482L|CACNA1C_ENST00000344100.3_Silent_p.L1504L|CACNA1C_ENST00000399634.1_Silent_p.L1482L|CACNA1C_ENST00000399637.1_Silent_p.L1482L|CACNA1C_ENST00000399606.1_Silent_p.L1502L|CACNA1C_ENST00000399641.1_Silent_p.L1482L|CACNA1C_ENST00000399597.1_Silent_p.L1482L|CACNA1C_ENST00000399591.1_Silent_p.L1471L|CACNA1C_ENST00000399655.1_Silent_p.L1482L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1530	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGACTACCTGACAAGGGACT	0.488																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4444-4446)ctG>ctA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						127.0	128.0	127.0					12																	2774794		2197	4299	6496	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2774794G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4590G>A	12.37:g.2774794G>A						CACNA1C_ENST00000399591.1_Silent_p.L1471L|CACNA1C_ENST00000399606.1_Silent_p.L1502L|CACNA1C_ENST00000344100.3_Silent_p.L1504L|CACNA1C_ENST00000399637.1_Silent_p.L1482L|CACNA1C_ENST00000406454.3_Silent_p.L1482L|CACNA1C_ENST00000399629.1_Silent_p.L1499L|CACNA1C_ENST00000399621.1_Silent_p.L1482L|CACNA1C_ENST00000347598.4_Silent_p.L1530L|CACNA1C_ENST00000399603.1_Silent_p.L1482L|CACNA1C_ENST00000399634.1_Silent_p.L1482L|CACNA1C_ENST00000399641.1_Silent_p.L1482L|CACNA1C_ENST00000399644.1_Silent_p.L1482L|CACNA1C_ENST00000399601.1_Silent_p.L1482L|CACNA1C_ENST00000399649.1_Silent_p.L1469L|CACNA1C_ENST00000402845.3_Silent_p.L1482L|CACNA1C_ENST00000327702.7_Silent_p.L1482L|CACNA1C_ENST00000399595.1_Silent_p.L1471L|CACNA1C_ENST00000399617.1_Silent_p.L1482L|CACNA1C_ENST00000399597.1_Silent_p.L1482L|CACNA1C_ENST00000335762.5_Silent_p.L1507L|CACNA1C_ENST00000399638.1_Silent_p.L1510L	p.L1482L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	36	4711	+			1530			Dihydropyridine binding (By similarity).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.4446G>A	CCDS44788.1																																																																																				0.488	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		17	27	0	0	0	1	0	17	27				
SLC4A11	83959	broad.mit.edu	37	20	3214251	3214251	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3214251A>G	ENST00000380056.3	-	6	733	c.686T>C	c.(685-687)gTg>gCg	p.V229A	SLC4A11_ENST00000539553.2_Missense_Mutation_p.V213A|SLC4A11_ENST00000380059.3_Missense_Mutation_p.V256A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	229					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCTGATGCACACGTGCCGCTT	0.642																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(766-768)gTg>gCg		solute carrier family 4, sodium borate transporter, member 11							86.0	76.0	79.0					20																	3214251		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214251A>G	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.686T>C	20.37:g.3214251A>G	ENSP00000369396:p.Val229Ala					SLC4A11_ENST00000539553.1_Missense_Mutation_p.V213A|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.V229A	p.V256A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			7	868	-			229					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.767T>C	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.859041	0.91433	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.27	5.27	0.74061	Phosphotransferase system, phosphoenolpyruvate-dependent sugar EIIA 2 (2);Phosphotransferase/anion transporter (1);	0.067095	0.64402	D	0.000016	D	0.94522	0.8236	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.972;0.984;0.984	D	0.95115	0.8241	10	0.87932	D	0	.	14.8462	0.70261	1.0:0.0:0.0:0.0	.	213;256;229	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	A	256;229;213;213	ENSP00000369399:V256A;ENSP00000369396:V229A;ENSP00000441370:V213A;ENSP00000404271:V213A	ENSP00000369396:V229A	V	-	2	0	SLC4A11	3162251	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.941000	0.92964	1.992000	0.58205	0.379000	0.24179	GTG		0.642	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			5	33	0	0	0	1	0	5	33				
DYM	54808	broad.mit.edu	37	18	46956757	46956757	+	Missense_Mutation	SNP	G	G	A	rs377272544		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46956757G>A	ENST00000269445.6	-	2	465	c.8C>T	c.(7-9)tCg>tTg	p.S3L	RP11-110H1.9_ENST00000583579.1_RNA|DYM_ENST00000584977.1_5'UTR|DYM_ENST00000442713.2_Missense_Mutation_p.S3L	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	3					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCTATTCGATCCCATCTT	0.348																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(7-9)tCg>tTg		dymeclin		G	LEU/SER	0,4406		0,0,2203	113.0	111.0	112.0		8	5.9	0.7	18		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	DYM	NM_017653.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3/670	46956757	1,13005	2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46956757G>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.8C>T	18.37:g.46956757G>A	ENSP00000269445:p.Ser3Leu					DYM_ENST00000442713.2_Missense_Mutation_p.S3L|DYM_ENST00000584977.1_5'UTR	p.S3L	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			2	465	-			3					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.8C>T	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630679	0.28978	0.0	1.16E-4	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.83755	-1.76;-1.76	5.87	5.87	0.94306	.	0.106081	0.64402	D	0.000005	T	0.75613	0.3873	L	0.29908	0.895	0.80722	D	1	B;B	0.32829	0.296;0.386	B;B	0.25884	0.024;0.064	T	0.75328	-0.3356	10	0.59425	D	0.04	-8.6474	18.7629	0.91860	0.0:0.0:1.0:0.0	.	3;3	Q7RTS9-2;Q7RTS9	.;DYM_HUMAN	L	3	ENSP00000395942:S3L;ENSP00000269445:S3L	ENSP00000269445:S3L	S	-	2	0	DYM	45210755	1.000000	0.71417	0.701000	0.30321	0.027000	0.11550	8.575000	0.90766	2.941000	0.99782	0.655000	0.94253	TCG		0.348	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		39	57	0	0	0	1	0	39	57				
SLC26A7	115111	broad.mit.edu	37	8	92330558	92330558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92330558C>A	ENST00000276609.3	+	5	831	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	SLC26A7_ENST00000523719.1_Missense_Mutation_p.L198I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L198I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTCAAATATCTCTTGGGAAT	0.443																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(592-594)Ctc>Atc		solute carrier family 26 (anion exchanger), member 7							130.0	129.0	130.0					8																	92330558		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92330558C>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.592C>A	8.37:g.92330558C>A	ENSP00000276609:p.Leu198Ile					SLC26A7_ENST00000523719.1_Missense_Mutation_p.L198I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L198I	p.L198I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		5	831	+			198						Missense_Mutation	SNP	ENST00000276609.3	37	c.592C>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471500	0.84533	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	5.95	5.95	0.96441	Sulphate transporter (1);	0.000000	0.64402	D	0.000008	D	0.94745	0.8304	N	0.20766	0.605	0.43342	D	0.995394	D;D	0.76494	0.998;0.999	D;D	0.87578	0.996;0.998	D	0.92664	0.6144	10	0.21014	T	0.42	.	20.3921	0.98947	0.0:1.0:0.0:0.0	.	198;198	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	I	198	ENSP00000428881:L198I;ENSP00000428849:L198I;ENSP00000276609:L198I;ENSP00000309504:L198I	ENSP00000276609:L198I	L	+	1	0	SLC26A7	92399734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.603000	0.46266	2.822000	0.97130	0.650000	0.86243	CTC		0.443	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			8	80	1	0	5.18039e-06	1	5.91835e-06	8	80				
DLX6	1750	broad.mit.edu	37	7	96639119	96639119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96639119G>A	ENST00000518156.2	+	3	1072	c.642G>A	c.(640-642)tgG>tgA	p.W214*	DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000007660.5_Nonsense_Mutation_p.W186*|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.W86*|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	96					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGAAGATATGGTTTCAGAACA	0.478																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(640-642)tgG>tgA		distal-less homeobox 6							101.0	100.0	101.0					7																	96639119		2002	4190	6192	SO:0001587	stop_gained	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639119G>A		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.642G>A	7.37:g.96639119G>A	ENSP00000428480:p.Trp214*					DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.W86*|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6_ENST00000007660.5_Nonsense_Mutation_p.W186*	p.W214*			P56179	DLX6_HUMAN			3	1072	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		96					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Nonsense_Mutation	SNP	ENST00000518156.2	37	c.642G>A	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	G	32	5.134871	0.94517	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	.	.	.	5.24	5.24	0.73138	.	0.107979	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9075	19.0086	0.92863	0.0:0.0:1.0:0.0	.	.	.	.	X	214;186;86	.	ENSP00000007660:W186X	W	+	3	0	DLX6	96477055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.595000	0.98260	2.732000	0.93576	0.655000	0.94253	TGG		0.478	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		75	58	0	0	0	1	0	75	58				
COL18A1	80781	broad.mit.edu	37	21	46900027	46900027	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46900027G>T	ENST00000359759.4	+	10	2621	c.2600G>T	c.(2599-2601)gGg>gTg	p.G867V	COL18A1_ENST00000400337.2_Missense_Mutation_p.G452V|COL18A1_ENST00000355480.5_Missense_Mutation_p.G632V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	867	Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ggaccccaagggcctccaggg	0.647																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2599-2601)gGg>gTg		collagen, type XVIII, alpha 1							26.0	33.0	31.0					21																	46900027		1857	4094	5951	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46900027G>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2600G>T	21.37:g.46900027G>T	ENSP00000352798:p.Gly867Val					COL18A1_ENST00000355480.5_Missense_Mutation_p.G632V|COL18A1_ENST00000400337.2_Missense_Mutation_p.G452V	p.G867V			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	10	2621	+			867			Triple-helical region 2 (COL2).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2600G>T		.	.	.	.	.	.	.	.	.	.	G	13.89	2.371931	0.42003	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.97850	-4.57;-4.19;-4.19	3.19	3.19	0.36642	.	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98556	1.0639	10	0.87932	D	0	.	10.0536	0.42230	0.0:0.0:1.0:0.0	.	867;632;452	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	V	452;452;632;867;867	ENSP00000383191:G452V;ENSP00000347665:G632V;ENSP00000352798:G867V	ENSP00000347665:G632V	G	+	2	0	COL18A1	45724455	1.000000	0.71417	0.995000	0.50966	0.814000	0.46013	5.407000	0.66363	1.812000	0.52913	0.561000	0.74099	GGG		0.647	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			18	15	1	0	9.16793e-09	1	1.10245e-08	18	15				
TTN	7273	broad.mit.edu	37	2	179474164	179474164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179474164C>A	ENST00000591111.1	-	223	47174	c.46950G>T	c.(46948-46950)gaG>gaT	p.E15650D	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8226D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8351D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14723D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17291D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8418D			Q8WZ42	TITIN_HUMAN	titin	15650	Ig-like 98.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTAATTTCCTCTGGTACAA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(51871-51873)gaG>gaT		titin							108.0	103.0	105.0					2																	179474164		1928	4121	6049	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474164C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46950G>T	2.37:g.179474164C>A	ENSP00000465570:p.Glu15650Asp					TTN_ENST00000460472.2_Missense_Mutation_p.E8226D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14723D|TTN_ENST00000359218.5_Missense_Mutation_p.E8351D|TTN_ENST00000342175.6_Missense_Mutation_p.E8418D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15650D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.E17291D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	52097	-			15650			Fibronectin type-III 25.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.51873G>T		.	.	.	.	.	.	.	.	.	.	C	11.01	1.514079	0.27123	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64991	-0.13;0.09;0.07;0.07	5.63	0.451	0.16629	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65523	0.2699	M	0.61703	1.905	0.28911	N	0.892684	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.50754	0.649;0.649;0.649;0.649	T	0.61657	-0.7018	9	0.87932	D	0	.	9.5231	0.39147	0.0:0.5256:0.0:0.4744	.	8226;8351;8418;15650	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	14723;8226;8418;8351;8226	ENSP00000343764:E14723D;ENSP00000434586:E8226D;ENSP00000340554:E8418D;ENSP00000352154:E8351D	ENSP00000340554:E8418D	E	-	3	2	TTN	179182409	0.996000	0.38824	0.998000	0.56505	0.823000	0.46562	0.415000	0.21181	-0.002000	0.14469	0.655000	0.94253	GAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	36	1	0	6.40141e-05	1	7.11719e-05	11	36				
CBLN3	643866	broad.mit.edu	37	14	24897112	24897112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897112G>A	ENST00000267406.6	-	3	971	c.501C>T	c.(499-501)agC>agT	p.S167S	KHNYN_ENST00000553935.1_5'Flank|CBLN3_ENST00000555436.1_Silent_p.S116S|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000556842.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	167	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTAGCACAGAGCTGGTGGCTG	0.602																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(499-501)agC>agT		cerebellin 3 precursor							96.0	96.0	96.0					14																	24897112		2203	4300	6503	SO:0001819	synonymous_variant	643866					cell junction|extracellular region|synapse		g.chr14:24897112G>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.501C>T	14.37:g.24897112G>A						CBLN3_ENST00000555436.1_Silent_p.S116S	p.S167S	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	3	971	-			167			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Silent	SNP	ENST00000267406.6	37	c.501C>T	CCDS32057.1																																																																																				0.602	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		44	56	0	0	0	1	0	44	56				
RPTN	126638	broad.mit.edu	37	1	152128585	152128585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152128585G>T	ENST00000316073.3	-	3	1054	c.990C>A	c.(988-990)caC>caA	p.H330Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	330	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTGACTGTAGTGGGAACTCT	0.488																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(988-990)caC>caA		repetin							750.0	655.0	684.0					1																	152128585		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128585G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.990C>A	1.37:g.152128585G>T	ENSP00000317895:p.His330Gln						p.H330Q	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1054	-			330			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.990C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	g	6.948	0.544789	0.13312	.	.	ENSG00000215853	ENST00000316073	T	0.11604	2.76	4.56	-1.97	0.07503	.	2.606170	0.02612	N	0.102296	T	0.02119	0.0066	L	0.41236	1.265	0.09310	N	1	B	0.22146	0.065	B	0.15052	0.012	T	0.41034	-0.9531	10	0.23891	T	0.37	.	1.3194	0.02113	0.2862:0.2599:0.3224:0.1316	.	330	Q6XPR3	RPTN_HUMAN	Q	330	ENSP00000317895:H330Q	ENSP00000317895:H330Q	H	-	3	2	RPTN	150395209	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.188000	0.03064	-0.253000	0.09514	0.393000	0.25936	CAC		0.488	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		64	736	1	0	1.34159e-35	1	1.80544e-35	64	736				
PARD3B	117583	broad.mit.edu	37	2	206166242	206166242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206166242C>T	ENST00000406610.2	+	18	2654	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	PARD3B_ENST00000462231.1_Missense_Mutation_p.S816F|PARD3B_ENST00000358768.2_Missense_Mutation_p.S754F|PARD3B_ENST00000351153.1_Missense_Mutation_p.S747F|PARD3B_ENST00000349953.3_Missense_Mutation_p.S816F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	816					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AATTGTGAGTCTGCCCCTCAG	0.453																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2446-2448)tCt>tTt		par-3 family cell polarity regulator beta							93.0	92.0	92.0					2																	206166242		1837	4100	5937	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206166242C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2447C>T	2.37:g.206166242C>T	ENSP00000385848:p.Ser816Phe					PARD3B_ENST00000351153.1_Missense_Mutation_p.S747F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S816F|PARD3B_ENST00000349953.3_Missense_Mutation_p.S816F|PARD3B_ENST00000358768.2_Missense_Mutation_p.S754F	p.S816F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	18	2654	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	816					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2447C>T		.	.	.	.	.	.	.	.	.	.	C	17.72	3.459254	0.63401	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.87	4.99	0.66335	.	0.069298	0.56097	D	0.000023	T	0.48447	0.1500	L	0.54323	1.7	0.36772	D	0.883831	B;D;B;D;D	0.89917	0.007;0.991;0.004;0.998;1.0	B;P;B;D;D	0.72338	0.011;0.835;0.005;0.943;0.977	T	0.58797	-0.7573	10	0.87932	D	0	.	11.2573	0.49060	0.0:0.8601:0.0:0.1399	.	747;816;747;754;816	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	F	816;754;747;816	ENSP00000385848:S816F;ENSP00000351618:S754F;ENSP00000317261:S747F;ENSP00000340280:S816F	ENSP00000340280:S816F	S	+	2	0	PARD3B	205874487	0.976000	0.34144	0.992000	0.48379	0.991000	0.79684	2.009000	0.40903	1.484000	0.48361	0.650000	0.86243	TCT		0.453	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		5	97	0	0	0	1	0	5	97				
NEURL4	84461	broad.mit.edu	37	17	7231164	7231164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7231164C>T	ENST00000399464.2	-	2	337	c.322G>A	c.(322-324)Gcg>Acg	p.A108T	NEURL4_ENST00000315614.7_Missense_Mutation_p.A108T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A108T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	108	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGTCCAGCGCTGTCACCCCA	0.617																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(322-324)Gcg>Acg		neuralized E3 ubiquitin protein ligase 4							20.0	23.0	22.0					17																	7231164		1995	4163	6158	SO:0001583	missense	84461							g.chr17:7231164C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.322G>A	17.37:g.7231164C>T	ENSP00000382390:p.Ala108Thr					NEURL4_ENST00000315614.7_Missense_Mutation_p.A108T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A108T	p.A108T	NM_032442.2	NP_115818.2					2	337	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.322G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415897	0.25552	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.70045	-0.45;-0.45	5.08	4.09	0.47781	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.068287	0.56097	D	0.000025	T	0.37046	0.0989	N	0.02266	-0.62	0.49483	D	0.999796	P;P	0.40578	0.676;0.722	B;B	0.39027	0.19;0.288	T	0.39014	-0.9634	10	0.07482	T	0.82	-12.1347	12.3735	0.55267	0.1693:0.8307:0.0:0.0	.	108;108	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	T	108	ENSP00000319826:A108T;ENSP00000382390:A108T	ENSP00000319826:A108T	A	-	1	0	NEURL4	7171888	0.998000	0.40836	0.942000	0.38095	0.989000	0.77384	3.903000	0.56318	1.237000	0.43756	0.555000	0.69702	GCG		0.617	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		10	10	0	0	0	1	0	10	10				
MAGEA6	4105	broad.mit.edu	37	X	151870016	151870016	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151870016G>T	ENST00000329342.5	+	3	931	c.706G>T	c.(706-708)Gac>Tac	p.D236Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	236	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGGAAGACAGTATCTT	0.532																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(706-708)Gac>Tac		melanoma antigen family A, 6							163.0	156.0	158.0					X																	151870016		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870016G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.706G>T	X.37:g.151870016G>T	ENSP00000329199:p.Asp236Tyr						p.D236Y	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	931	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.706G>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	2.838	-0.241062	0.05906	.	.	ENSG00000197172	ENST00000329342	T	0.05025	3.51	0.605	-1.21	0.09524	.	.	.	.	.	T	0.06005	0.0156	L	0.48877	1.53	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36578	-0.9742	8	0.72032	D	0.01	.	.	.	.	.	236	P43360	MAGA6_HUMAN	Y	236	ENSP00000329199:D236Y	ENSP00000329199:D236Y	D	+	1	0	MAGEA6	151620672	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.014000	0.12656	-0.237000	0.09739	-1.247000	0.01520	GAC		0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		18	190	1	0	6.94344e-10	1	8.49476e-10	18	190				
COL24A1	255631	broad.mit.edu	37	1	86304298	86304298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86304298C>T	ENST00000370571.2	-	43	4017	c.3651G>A	c.(3649-3651)gaG>gaA	p.E1217E	COL24A1_ENST00000436319.1_Silent_p.E1217E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1217	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCTCTCCTCTCTCTCCTTGGT	0.418																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3649-3651)gaG>gaA		collagen, type XXIV, alpha 1							136.0	132.0	134.0					1																	86304298		1852	4099	5951	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86304298C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3651G>A	1.37:g.86304298C>T						COL24A1_ENST00000436319.1_Silent_p.E1217E	p.E1217E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	43	4017	-			1217			Collagen-like 13.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.3651G>A	CCDS41353.1																																																																																				0.418	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		7	155	0	0	0	1	0	7	155				
HEMGN	55363	broad.mit.edu	37	9	100693430	100693430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100693430C>T	ENST00000259456.3	-	4	390	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	83	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCAATTCTGTGTTTTGT	0.433																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(247-249)Gaa>Aaa		hemogen							163.0	159.0	160.0					9																	100693430		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693430C>T	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.247G>A	9.37:g.100693430C>T	ENSP00000259456:p.Glu83Lys						p.E83K	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	390	-		Acute lymphoblastic leukemia(62;0.0559)	83			Necessary for nuclear localization.		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.247G>A	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	c	3.438	-0.114752	0.06881	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.84	1.9	0.25705	.	0.508271	0.19317	N	0.117255	T	0.39627	0.1085	L	0.58101	1.795	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.30446	-0.9978	9	0.42905	T	0.14	-2.9193	6.792	0.23705	0.0:0.6643:0.1477:0.188	.	83	Q9BXL5	HEMGN_HUMAN	K	83	.	ENSP00000259456:E83K	E	-	1	0	HEMGN	99733251	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.051000	0.11885	0.060000	0.16281	-2.912000	0.00091	GAA		0.433	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		23	59	0	0	0	1	0	23	59				
IRF2	3660	broad.mit.edu	37	4	185320164	185320164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185320164C>T	ENST00000393593.3	-	7	806	c.599G>A	c.(598-600)tGc>tAc	p.C200Y		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	200					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TACAACTTGGCAAATGTCTGG	0.507																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(598-600)tGc>tAc		interferon regulatory factor 2							141.0	119.0	126.0					4																	185320164		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185320164C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.599G>A	4.37:g.185320164C>T	ENSP00000377218:p.Cys200Tyr						p.C200Y	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	7	806	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	200					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.599G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626659	0.87560	.	.	ENSG00000168310	ENST00000393593;ENST00000502750	D;D	0.82984	-1.67;-1.67	6.02	6.02	0.97574	.	0.100012	0.64402	D	0.000001	D	0.90590	0.7050	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89435	0.3719	10	0.52906	T	0.07	-17.9138	20.5407	0.99260	0.0:1.0:0.0:0.0	.	200	P14316	IRF2_HUMAN	Y	200;57	ENSP00000377218:C200Y;ENSP00000423074:C57Y	ENSP00000377218:C200Y	C	-	2	0	IRF2	185557158	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.300000	0.72776	2.865000	0.98341	0.655000	0.94253	TGC		0.507	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			6	52	0	0	0	1	0	6	52				
TRAFD1	10906	broad.mit.edu	37	12	112579001	112579001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112579001G>A	ENST00000257604.5	+	5	1233	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A206T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	206					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GAACATTACAGCCCAGGTTTC	0.483																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(616-618)Gcc>Acc		TRAF-type zinc finger domain containing 1							46.0	46.0	46.0					12																	112579001		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112579001G>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.616G>A	12.37:g.112579001G>A	ENSP00000257604:p.Ala206Thr					TRAFD1_ENST00000412615.2_Missense_Mutation_p.A206T	p.A206T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			5	1233	+			206					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.616G>A	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	2.307	-0.358760	0.05138	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896	T;T;T	0.02974	4.09;4.09;4.09	5.2	-8.23	0.01033	.	1.756720	0.02356	N	0.076428	T	0.02970	0.0088	L	0.57536	1.79	0.19575	N	0.999962	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.39840	-0.9594	10	0.38643	T	0.18	-0.0471	1.0689	0.01617	0.3857:0.0974:0.2021:0.3149	.	206;206	F8VNX8;O14545	.;TRAD1_HUMAN	T	206	ENSP00000396526:A206T;ENSP00000257604:A206T;ENSP00000450357:A206T	ENSP00000257604:A206T	A	+	1	0	TRAFD1	111063384	0.129000	0.22400	0.000000	0.03702	0.362000	0.29581	-0.337000	0.07852	-1.824000	0.01209	-0.261000	0.10672	GCC		0.483	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		28	35	0	0	0	1	0	28	35				
SFMBT2	57713	broad.mit.edu	37	10	7239607	7239607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7239607T>C	ENST00000361972.4	-	15	1691	c.1601A>G	c.(1600-1602)aAc>aGc	p.N534S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.N534S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	534					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACACCTGTGGTTGATGAAGAG	0.542																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1600-1602)aAc>aGc		Scm-like with four mbt domains 2							124.0	112.0	116.0					10																	7239607		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7239607T>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1601A>G	10.37:g.7239607T>C	ENSP00000355109:p.Asn534Ser					SFMBT2_ENST00000397167.1_Missense_Mutation_p.N534S	p.N534S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			15	1691	-			534					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1601A>G	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755775	0.89843	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.56444	0.46;0.46	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.75988	-0.3123	10	0.72032	D	0.01	.	14.8524	0.70306	0.0:0.0:0.0:1.0	.	534	Q5VUG0	SMBT2_HUMAN	S	534	ENSP00000355109:N534S;ENSP00000380353:N534S	ENSP00000355109:N534S	N	-	2	0	SFMBT2	7279613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.911000	0.87458	1.909000	0.55274	0.455000	0.32223	AAC		0.542	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		6	57	0	0	0	1	0	6	57				
NONO	4841	broad.mit.edu	37	X	70519876	70519876	+	Missense_Mutation	SNP	C	C	T	rs375259906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70519876C>T	ENST00000276079.8	+	12	1571	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	ITGB1BP2_ENST00000373829.3_5'Flank|ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000535149.1_Missense_Mutation_p.R367C|NONO_ENST00000373856.3_Missense_Mutation_p.R456C|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R456C	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	456					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGCATTCAACCGTGCAGCTCC	0.458			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1099-1101)Cgt>Tgt		non-POU domain containing, octamer-binding		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	110.0	94.0	100.0		1366,1366,1099,1366	5.1	1.0	X		100	1,6727		0,1,2427,1872	no	missense,missense,missense,missense	NONO	NM_001145408.1,NM_001145409.1,NM_001145410.1,NM_007363.4	180,180,180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	456/472,456/472,367/383,456/472	70519876	1,10562	2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70519876C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1366C>T	X.37:g.70519876C>T	ENSP00000276079:p.Arg456Cys					NONO_ENST00000373841.1_Missense_Mutation_p.R456C|NONO_ENST00000373856.3_Missense_Mutation_p.R456C|NONO_ENST00000276079.8_Missense_Mutation_p.R456C|NONO_ENST00000490044.1_3'UTR	p.R367C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			10	1742	+	Renal(35;0.156)		456	QQ -> HE (in Ref. 3 and 4).		DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.1099C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	-	12.75	2.030506	0.35797	0.0	1.49E-4	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.22945	1.98;1.93;1.93;1.93	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	L	0.33485	1.01	0.80722	D	1	P	0.42735	0.788	B	0.36766	0.232	T	0.02512	-1.1148	10	0.51188	T	0.08	-5.6038	13.4361	0.61084	0.1669:0.8331:0.0:0.0	.	456	Q15233	NONO_HUMAN	C	367;456;456;456	ENSP00000441364:R367C;ENSP00000276079:R456C;ENSP00000362963:R456C;ENSP00000362947:R456C	ENSP00000276079:R456C	R	+	1	0	NONO	70436601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.723000	0.47277	2.347000	0.79759	0.529000	0.55759	CGT		0.458	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		33	50	0	0	0	1	0	33	50				
RNF213	57674	broad.mit.edu	37	17	78321958	78321958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78321958C>A	ENST00000582970.1	+	29	9966	c.9823C>A	c.(9823-9825)Ctg>Atg	p.L3275M	RNF213_ENST00000336301.6_Missense_Mutation_p.L1348M|RNF213_ENST00000508628.2_Missense_Mutation_p.L3324M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3275					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCCTACTCGCTGGGCGGGTT	0.597																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9823-9825)Ctg>Atg		ring finger protein 213							59.0	51.0	54.0					17																	78321958		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78321958C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9823C>A	17.37:g.78321958C>A	ENSP00000464087:p.Leu3275Met					RNF213_ENST00000336301.6_Missense_Mutation_p.L1348M|RNF213_ENST00000508628.2_Missense_Mutation_p.L3324M	p.L3275M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9966	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.9823C>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	7.876	0.729270	0.15507	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.17370	2.28	4.52	3.54	0.40534	.	0.000000	0.64402	D	0.000019	T	0.37999	0.1024	M	0.83953	2.67	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.15752	-1.0426	10	0.59425	D	0.04	.	5.9506	0.19245	0.0:0.643:0.1729:0.1841	.	1348	Q63HN8	RN213_HUMAN	M	3275;3324;1348	ENSP00000338218:L1348M	ENSP00000338218:L1348M	L	+	1	2	RNF213	75936553	0.519000	0.26242	0.106000	0.21319	0.020000	0.10135	1.037000	0.30241	1.225000	0.43566	0.462000	0.41574	CTG		0.597	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	42	1	0	0.000157383	1	0.00017284	6	42				
PCGF5	84333	broad.mit.edu	37	10	93008278	93008278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008278G>T	ENST00000336126.5	+	4	458	c.226G>T	c.(226-228)Gag>Tag	p.E76*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.E76*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CAATACATTAGAGGAAATTAT	0.353																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(226-228)Gag>Tag		polycomb group ring finger 5							175.0	177.0	176.0					10																	93008278		2203	4300	6503	SO:0001587	stop_gained	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93008278G>T	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.226G>T	10.37:g.93008278G>T	ENSP00000337500:p.Glu76*					PCGF5_ENST00000543648.1_Nonsense_Mutation_p.E76*	p.E76*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			4	458	+			76					B7Z892|D3DR33|Q6PK47|Q86TD0	Nonsense_Mutation	SNP	ENST00000336126.5	37	c.226G>T	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	G	40	8.007031	0.98607	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.5144	19.4162	0.94700	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000337500:E76X	E	+	1	0	PCGF5	92998258	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.501000	0.97979	2.658000	0.90341	0.650000	0.86243	GAG		0.353	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		15	109	1	0	3.45872e-05	1	3.88335e-05	15	109				
POLR3B	55703	broad.mit.edu	37	12	106903277	106903277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903277C>T	ENST00000228347.4	+	28	3574	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.Q1060*|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1118					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGGAACTACAGTCTATGAA	0.443																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3352-3354)Cag>Tag		polymerase (RNA) III (DNA directed) polypeptide B							153.0	128.0	136.0					12																	106903277		2203	4300	6503	SO:0001587	stop_gained	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903277C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3352C>T	12.37:g.106903277C>T	ENSP00000228347:p.Gln1118*					POLR3B_ENST00000539066.1_Nonsense_Mutation_p.Q1060*|RP11-144F15.1_ENST00000551505.1_Intron	p.Q1118*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			28	3574	+			1118					A8K6H0|B3KV73|F5H1E6|Q9NW59	Nonsense_Mutation	SNP	ENST00000228347.4	37	c.3352C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	42	9.350457	0.99145	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.4996	19.557	0.95354	0.0:1.0:0.0:0.0	.	.	.	.	X	1118;1060	.	ENSP00000228347:Q1118X	Q	+	1	0	POLR3B	105427407	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	6.071000	0.71229	2.630000	0.89119	0.655000	0.94253	CAG		0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		22	55	0	0	0	1	0	22	55				
CDRT1	374286	broad.mit.edu	37	17	15518967	15518967	+	Missense_Mutation	SNP	G	G	T	rs373099024		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15518967G>T	ENST00000395906.3	-	2	661	c.662C>A	c.(661-663)tCt>tAt	p.S221Y	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.S531Y	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	221										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ACCAGGGTTAGATGCTGCCCC	0.517																																						ENST00000455584.2																			0											c.(1591-1593)tCt>tAt									84.0	82.0	83.0					17																	15518967		2202	4300	6502	SO:0001583	missense	0							g.chr17:15518967G>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.662C>A	17.37:g.15518967G>T	ENSP00000379242:p.Ser221Tyr					CDRT1_ENST00000395906.3_Missense_Mutation_p.S221Y	p.S531Y							8	1635	-								O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.1592C>A	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.819|5.819	0.335365|0.335365	0.11013|0.11013	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000455584|ENST00000261644;ENST00000395906	.|T	.|0.23950	.|1.88	2.6|2.6	0.49|0.49	0.16861|0.16861	.|.	.|0.976842	.|0.08347	.|U	.|0.959936	T|T	0.19644|0.19644	0.0472|0.0472	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|P;P	.|0.46277	.|0.875;0.875	.|B;B	.|0.41691	.|0.364;0.36	T|T	0.17440|0.17440	-1.0369|-1.0369	5|10	.|0.42905	.|T	.|0.14	.|.	4.7443|4.7443	0.13029|0.13029	0.323:0.0:0.677:0.0|0.323:0.0:0.677:0.0	.|.	.|221;545	.|O95170;Q59EB2	.|CDRT1_HUMAN;.	I|Y	546|221	.|ENSP00000379242:S221Y	.|ENSP00000261644:S221Y	L|S	-|-	1|2	2|0	RP11-385D13.1|RP11-385D13.1	15459692|15459692	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.071000|-0.071000	0.11505|0.11505	0.171000|0.171000	0.19730|0.19730	0.455000|0.455000	0.32223|0.32223	CTA|TCT		0.517	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		14	24	1	0	0.000308642	1	0.000336111	14	24				
SMARCAD1	56916	broad.mit.edu	37	4	95210632	95210632	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95210632G>T	ENST00000354268.4	+	24	3101	c.3028G>T	c.(3028-3030)Ggg>Tgg	p.G1010W	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.G1012W|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.G580W			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1010	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.G1010W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGGTGATGAAGGGAGTATGCC	0.313																																						ENST00000354268.4																			1	Substitution - Missense(1)	p.G1010W(1)	lung(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3028-3030)Ggg>Tgg		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							143.0	141.0	142.0					4																	95210632		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95210632G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.3028G>T	4.37:g.95210632G>T	ENSP00000346217:p.Gly1010Trp					SMARCAD1_ENST00000509418.1_Missense_Mutation_p.G580W|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.G1012W	p.G1010W			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	24	3101	+			1010			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.3028G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673045	0.47781	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.91577	-2.46;-2.46;-2.47;-2.87	5.16	5.16	0.70880	Helicase, C-terminal (1);	0.000000	0.47852	D	0.000201	D	0.93154	0.7820	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.94121	0.7379	10	0.87932	D	0	-10.9101	18.6606	0.91470	0.0:0.0:1.0:0.0	.	1010;1012	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	W	1012;1012;1010;580	ENSP00000351947:G1012W;ENSP00000415576:G1012W;ENSP00000346217:G1010W;ENSP00000423286:G580W	ENSP00000346217:G1010W	G	+	1	0	SMARCAD1	95429655	1.000000	0.71417	0.999000	0.59377	0.807000	0.45602	8.120000	0.89581	2.391000	0.81399	0.561000	0.74099	GGG		0.313	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		9	126	1	0	3.09899e-07	1	3.63227e-07	9	126				
SAMD15	161394	broad.mit.edu	37	14	77844099	77844099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77844099G>T	ENST00000216471.4	+	1	624	c.338G>T	c.(337-339)aGa>aTa	p.R113I	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	113										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAACATCCAGAGAGATGGGA	0.493																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(337-339)aGa>aTa		sterile alpha motif domain containing 15							144.0	156.0	152.0					14																	77844099		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844099G>T	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.338G>T	14.37:g.77844099G>T	ENSP00000216471:p.Arg113Ile					SAMD15_ENST00000533095.2_Intron	p.R113I	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	624	+			113					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.338G>T	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885097	0.51908	.	.	ENSG00000100583	ENST00000216471	T	0.38887	1.11	5.43	2.58	0.30949	.	1.370330	0.05163	N	0.498248	T	0.50411	0.1614	L	0.46157	1.445	0.19300	N	0.999977	D	0.61697	0.99	P	0.54664	0.758	T	0.37291	-0.9712	10	0.41790	T	0.15	0.0172	9.0836	0.36567	0.237:0.0:0.763:0.0	.	113	Q9P1V8	SAM15_HUMAN	I	113	ENSP00000216471:R113I	ENSP00000216471:R113I	R	+	2	0	SAMD15	76913852	0.365000	0.25006	0.005000	0.12908	0.008000	0.06430	0.527000	0.22987	1.282000	0.44496	-0.266000	0.10368	AGA		0.493	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		11	155	1	0	0.000978159	1	0.00105116	11	155				
UNC119	9094	broad.mit.edu	37	17	26874428	26874428	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26874428C>T	ENST00000335765.4	-	5	721		c.e5-1		UNC119_ENST00000301032.4_3'UTR|UNC119_ENST00000484980.1_Splice_Site|UNC119_ENST00000470125.1_3'UTR	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)						cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					ATCTCGCTGACTGCAAGAGAG	0.582																																						ENST00000484980.1																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.e4-1		unc-119 homolog (C. elegans)							73.0	52.0	59.0					17																	26874428		2203	4300	6503	SO:0001630	splice_region_variant	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26874428C>T	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.611-1G>A	17.37:g.26874428C>T						UNC119_ENST00000470125.1_3'UTR|UNC119_ENST00000301032.4_3'UTR|UNC119_ENST00000335765.4_Splice_Site				Q13432	U119A_HUMAN			4	3487	-	Lung NSC(42;0.00431)							A8K8G4|F1T095|O95126	Splice_Site	SNP	ENST00000335765.4	37		CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775154	0.90108	.	.	ENSG00000109103	ENST00000335765	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5959	0.95538	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC119	23898555	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.644000	0.89710	0.462000	0.41574	.		0.582	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2		Intron	9	11	0	0	0	1	0	9	11				
PPP1R3F	89801	broad.mit.edu	37	X	49143182	49143182	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143182T>C	ENST00000055335.6	+	4	2046	c.2030T>C	c.(2029-2031)gTc>gCc	p.V677A	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V348A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	677					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGATAGAGGTCACCAGTGAG	0.592																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(2029-2031)gTc>gCc		protein phosphatase 1, regulatory subunit 3F							49.0	33.0	38.0					X																	49143182		2202	4299	6501	SO:0001583	missense	89801					integral to membrane		g.chrX:49143182T>C		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2030T>C	X.37:g.49143182T>C	ENSP00000055335:p.Val677Ala					PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V348A|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V331A	p.V677A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	2046	+	Ovarian(276;0.236)		677					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.2030T>C	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	T	3.434	-0.115500	0.06881	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.57595	0.82;0.82;0.39;0.82;0.82	4.66	2.0	0.26442	.	0.421095	0.20117	N	0.098885	T	0.28034	0.0691	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.13407	0.009;0.009;0.001	T	0.18524	-1.0334	10	0.72032	D	0.01	-0.1274	5.1939	0.15225	0.0:0.2685:0.0:0.7315	.	348;362;677	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	A	331;348;677;331;331	ENSP00000420687:V331A;ENSP00000415548:V348A;ENSP00000055335:V677A;ENSP00000417535:V331A;ENSP00000365359:V331A	ENSP00000055335:V677A	V	+	2	0	PPP1R3F	49030126	.	.	0.036000	0.18154	0.430000	0.31655	.	.	0.573000	0.29400	0.414000	0.27820	GTC		0.592	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		6	12	0	0	0	1	0	6	12				
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34045776G>A	ENST00000322229.7	-	13	1599	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*			O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388																																						ENST00000382499.2																			2	Substitution - Nonsense(2)	p.R534*(2)	large_intestine(2)	breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1717-1719)Cga>Tga		synaptojanin 1							95.0	91.0	92.0					21																	34045776		2203	4300	6503	SO:0001587	stop_gained	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34045776G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1600C>T	21.37:g.34045776G>A	ENSP00000322234:p.Arg534*					SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*	p.R573*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			14	1716	-			534			Catalytic (Potential).		O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	c.1717C>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	37	6.465883	0.97590	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	.	.	.	5.25	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4524	0.75282	0.0:0.0:0.8599:0.1401	.	.	.	.	X	529;534;573;573;534;529	.	ENSP00000322234:R534X	R	-	1	2	SYNJ1	32967647	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.743000	0.62110	1.336000	0.45506	0.460000	0.39030	CGA		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	57	0	0	0	1	0	6	57				
BSN	8927	broad.mit.edu	37	3	49693336	49693336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49693336G>A	ENST00000296452.4	+	5	6461	c.6347G>A	c.(6346-6348)gGc>gAc	p.G2116D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2116					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCGGCATGGCAGTGGTGGT	0.642																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6346-6348)gGc>gAc		bassoon presynaptic cytomatrix protein							64.0	66.0	65.0					3																	49693336		2202	4300	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693336G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6347G>A	3.37:g.49693336G>A	ENSP00000296452:p.Gly2116Asp						p.G2116D	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6461	+			2116					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6347G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190848	0.38707	.	.	ENSG00000164061	ENST00000296452	T	0.18960	2.18	5.48	3.53	0.40419	.	0.445207	0.24334	N	0.039426	T	0.16896	0.0406	L	0.29908	0.895	0.37110	D	0.900311	B	0.27498	0.18	B	0.24848	0.056	T	0.12344	-1.0551	10	0.48119	T	0.1	-9.2605	14.469	0.67504	0.0:0.5328:0.4672:0.0	.	2116	Q9UPA5	BSN_HUMAN	D	2116	ENSP00000296452:G2116D	ENSP00000296452:G2116D	G	+	2	0	BSN	49668340	0.984000	0.35163	0.953000	0.39169	0.968000	0.65278	3.623000	0.54224	1.267000	0.44247	0.655000	0.94253	GGC		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		11	42	0	0	0	1	0	11	42				
PKDREJ	10343	broad.mit.edu	37	22	46652821	46652821	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46652821G>T	ENST00000253255.5	-	1	6398	c.6399C>A	c.(6397-6399)gtC>gtA	p.V2133V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2133					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAAAGCTGAGACACAATAGG	0.413																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6397-6399)gtC>gtA		polycystin (PKD) family receptor for egg jelly							63.0	63.0	63.0					22																	46652821		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652821G>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6399C>A	22.37:g.46652821G>T							p.V2133V	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6398	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2133					B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.6399C>A	CCDS14073.1																																																																																				0.413	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		16	34	1	0	6.94344e-10	1	8.49476e-10	16	34				
HDAC5	10014	broad.mit.edu	37	17	42168852	42168852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168852C>T	ENST00000393622.2	-	11	1504	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	HDAC5_ENST00000586802.1_Silent_p.P391P|HDAC5_ENST00000336057.5_Silent_p.P391P|HDAC5_ENST00000225983.6_Silent_p.P392P	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	391					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCGACAGCTTCGGGGAGGCCT	0.617																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(1174-1176)ccG>ccA		histone deacetylase 5							16.0	20.0	18.0					17																	42168852		2195	4287	6482	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42168852C>T	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1173G>A	17.37:g.42168852C>T						HDAC5_ENST00000336057.5_Silent_p.P391P|HDAC5_ENST00000393622.2_Silent_p.P391P|HDAC5_ENST00000586802.1_Silent_p.P391P	p.P392P			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	11	1499	-		Breast(137;0.00637)|Prostate(33;0.0313)	391					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.1176G>A	CCDS45696.1																																																																																				0.617	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		4	18	0	0	0	1	0	4	18				
TAF4	6874	broad.mit.edu	37	20	60575278	60575278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575278C>A	ENST00000252996.4	-	11	2688	c.2689G>T	c.(2689-2691)Gat>Tat	p.D897Y		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	897					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D897N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTTACTACATCTGGATGTAAT	0.348																																						ENST00000252996.3																			1	Substitution - Missense(1)	p.D897N(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2689-2691)Gat>Tat		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							147.0	137.0	141.0					20																	60575278		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575278C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2689G>T	20.37:g.60575278C>A	ENSP00000252996:p.Asp897Tyr						p.D897Y	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		11	2688	-	Breast(26;1e-08)		897					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2689G>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664054	0.67700	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.41758	1.04;0.99	4.7	4.7	0.59300	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.056053	0.64402	D	0.000002	T	0.64821	0.2633	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.70238	-0.4927	10	0.87932	D	0	-15.0676	17.6539	0.88172	0.0:1.0:0.0:0.0	.	897	O00268	TAF4_HUMAN	Y	897;761	ENSP00000252996:D897Y;ENSP00000399091:D761Y	ENSP00000252996:D897Y	D	-	1	0	TAF4	60008673	1.000000	0.71417	0.062000	0.19696	0.633000	0.38033	6.957000	0.76019	2.152000	0.67230	0.561000	0.74099	GAT		0.348	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	80	1	0	0.000602214	1	0.000649039	5	80				
MROH6	642475	broad.mit.edu	37	8	144651884	144651884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144651884C>T	ENST00000398882.3	-	8	1541	c.1285G>A	c.(1285-1287)Gcg>Acg	p.A429T	MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	429	Leu-rich.																CGATTCAGCGCGAGGTGGCCC	0.692																																						ENST00000398882.3																			0											c.(1285-1287)Gcg>Acg		maestro heat-like repeat family member 6							37.0	43.0	41.0					8																	144651884		2039	4171	6210	SO:0001583	missense	642475							g.chr8:144651884C>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1285G>A	8.37:g.144651884C>T	ENSP00000381857:p.Ala429Thr					MROH6_ENST00000533679.1_5'UTR	p.A429T	NM_001100878.1	NP_001094348.1					8	1541	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1285G>A	CCDS47928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.61|14.61	2.587931|2.587931	0.46110|0.46110	.|.	.|.	ENSG00000204839|ENSG00000204839	ENST00000398882|ENST00000529971	T|T	0.47528|0.32272	0.84|1.46	4.83|4.83	4.83|4.83	0.62350|0.62350	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.304664|.	0.23332|.	N|.	0.049325|.	T|T	0.40670|0.40670	0.1126|0.1126	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.59767	1.0|0.986	D|P	0.85130|0.48454	0.997|0.578	T|T	0.44711|0.44711	-0.9310|-0.9310	10|9	0.45353|0.87932	T|D	0.12|0	-35.2657|-35.2657	15.4223|15.4223	0.75022|0.75022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	429|441	A6NGR9|E9PPP7	CH073_HUMAN|.	T|H	429|441	ENSP00000381857:A429T|ENSP00000436959:R441H	ENSP00000381857:A429T|ENSP00000436959:R441H	A|R	-|-	1|2	0|0	C8orf73|C8orf73	144723027|144723027	0.788000|0.788000	0.28762|0.28762	0.951000|0.951000	0.38953|0.38953	0.933000|0.933000	0.57130|0.57130	1.744000|1.744000	0.38268|0.38268	2.227000|2.227000	0.72691|0.72691	0.450000|0.450000	0.29827|0.29827	GCG|CGC		0.692	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		19	19	0	0	0	1	0	19	19				
MYH1	4619	broad.mit.edu	37	17	10397683	10397683	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10397683T>C	ENST00000226207.5	-	39	5749	c.5655A>G	c.(5653-5655)caA>caG	p.Q1885Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1885					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTTCAGCTTGTCTCTTGT	0.428																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5653-5655)caA>caG		myosin, heavy chain 1, skeletal muscle, adult							141.0	145.0	144.0					17																	10397683		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397683T>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5655A>G	17.37:g.10397683T>C						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q1885Q	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			39	5749	-			1885					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5655A>G	CCDS11155.1																																																																																				0.428	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		10	97	0	0	0	1	0	10	97				
CACNB2	783	broad.mit.edu	37	10	18828539	18828539	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18828539G>T	ENST00000324631.7	+	14	1929	c.1869G>T	c.(1867-1869)aaG>aaT	p.K623N	CACNB2_ENST00000396576.2_Missense_Mutation_p.K568N|CACNB2_ENST00000352115.6_Missense_Mutation_p.K599N|CACNB2_ENST00000377329.4_Missense_Mutation_p.K569N|CACNB2_ENST00000377315.4_Missense_Mutation_p.K575N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.K595N|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.K571N|CACNB2_ENST00000377319.3_Missense_Mutation_p.K530N|CACNB2_ENST00000377328.1_Missense_Mutation_p.K373N	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	623					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTGCAACAAGCAGCGCAGCC	0.547																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1702-1704)aaG>aaT		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						75.0	65.0	69.0					10																	18828539		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828539G>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1869G>T	10.37:g.18828539G>T	ENSP00000320025:p.Lys623Asn					CACNB2_ENST00000282343.8_Missense_Mutation_p.K595N|CACNB2_ENST00000352115.6_Missense_Mutation_p.K599N|CACNB2_ENST00000377315.4_Missense_Mutation_p.K575N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.K571N|CACNB2_ENST00000377319.3_Missense_Mutation_p.K530N|CACNB2_ENST00000324631.7_Missense_Mutation_p.K623N|CACNB2_ENST00000377329.4_Missense_Mutation_p.K569N|CACNB2_ENST00000377328.1_Missense_Mutation_p.K373N	p.K568N	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2205	+			623					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1704G>T	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386312	0.25031	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83673	-1.72;1.97;-1.75;-1.72;1.97;-1.72;-1.74;-1.72;-1.72	5.7	0.13	0.14746	.	0.339593	0.30036	N	0.010567	T	0.81574	0.4851	L	0.36672	1.1	0.53005	D	0.99996	B;P;D;P;P;P;P;B;P;P;P;D;P	0.55800	0.155;0.77;0.964;0.568;0.783;0.694;0.469;0.449;0.922;0.852;0.675;0.973;0.856	B;B;P;B;B;B;B;B;P;P;B;P;B	0.58660	0.096;0.357;0.706;0.168;0.358;0.436;0.138;0.265;0.632;0.56;0.265;0.843;0.432	T	0.75952	-0.3136	10	0.25106	T	0.35	-10.361	11.7632	0.51916	0.7219:0.0:0.2781:0.0	.	537;595;373;575;545;569;579;530;571;595;585;599;623	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	N	623;599;373;595;571;568;530;569;575	ENSP00000320025:K623N;ENSP00000344474:K599N;ENSP00000366545:K373N;ENSP00000282343:K595N;ENSP00000366548:K571N;ENSP00000379821:K568N;ENSP00000366536:K530N;ENSP00000366546:K569N;ENSP00000366532:K575N	ENSP00000282343:K595N	K	+	3	2	CACNB2	18868545	0.675000	0.27558	0.987000	0.45799	0.257000	0.26127	0.279000	0.18771	0.115000	0.18071	-1.988000	0.00451	AAG		0.547	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		22	32	1	0	3.73194e-20	1	4.89492e-20	22	32				
SRGAP2	23380	broad.mit.edu	37	1	206632219	206632219	+	Missense_Mutation	SNP	C	C	T	rs570977025		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632219C>T	ENST00000414007.1	+	18	2338	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	SRGAP2_ENST00000419187.2_Missense_Mutation_p.R238W			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	920	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCACAGATCCGGAAGACTGC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18475	0.0		0.0	False		,,,				2504	0.001					ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(2338-2340)Cgg>Tgg		SLIT-ROBO Rho GTPase activating protein 2							31.0	35.0	34.0					1																	206632219		1997	4172	6169	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206632219C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2338C>T	1.37:g.206632219C>T	ENSP00000390898:p.Arg780Trp					SRGAP2_ENST00000419187.2_Missense_Mutation_p.238_238insW	p.R780W			O75044	FNBP2_HUMAN			18	2338	+	Breast(84;0.137)		920			SH3.			Missense_Mutation	SNP	ENST00000414007.1	37	c.2338C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.059050|5.059050	0.93846|0.93846	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414007;ENST00000419187	.|T;T	.|0.66280	.|2.55;-0.2	6.06|6.06	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75532|0.75532	0.3862|0.3862	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.81944|0.81944	-0.0701|-0.0701	3|6	.|0.87932	.|D	.|0	.|.	15.7031|15.7031	0.77558|0.77558	0.1377:0.8623:0.0:0.0|0.1377:0.8623:0.0:0.0	.|.	.|.	.|.	.|.	L|W	833|780;238	.|ENSP00000390898:R780W;ENSP00000397990:R238W	.|ENSP00000390898:R780W	P|R	+|+	2|1	0|2	SRGAP2|SRGAP2	204698842|204698842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.415000|4.415000	0.59809|0.59809	1.524000|1.524000	0.49035|0.49035	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.552	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		8	15	0	0	0	1	0	8	15				
NOD2	64127	broad.mit.edu	37	16	50750562	50750562	+	Missense_Mutation	SNP	G	G	A	rs104895445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750562G>A	ENST00000300589.2	+	5	2632	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	843			E -> K (associated with Crohn disease). {ECO:0000269|PubMed:11385576}.		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTTCACTGCGAGCAATTGCA	0.493																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52	GRCh37	CM020661	NOD2	M	rs104895445	c.(2527-2529)Gag>Aag		nucleotide-binding oligomerization domain containing 2		G	LYS/GLU	1,4395	2.1+/-5.4	0,1,2197	76.0	67.0	70.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2527	5.8	0.2	16	dbSNP_132	70	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NOD2	NM_022162.1	56	0,3,6495	AA,AG,GG		0.0233,0.0227,0.0231	benign	843/1041	50750562	3,12993	2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50750562G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2527G>A	16.37:g.50750562G>A	ENSP00000300589:p.Glu843Lys						p.E843K	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			5	2632	+		all_cancers(37;0.0156)	843		E -> K (associated with Crohn disease).			E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2527G>A	CCDS10746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.152|8.152	0.787504|0.787504	0.16258|0.16258	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000167207|ENSG00000167207	ENST00000526417;ENST00000300589|ENST00000534057	T|.	0.49720|.	0.77|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.132017|.	0.45606|.	D|.	0.000345|.	T|T	0.54481|0.54481	0.1861|0.1861	L|L	0.27053|0.27053	0.805|0.805	0.47374|0.47374	D|D	0.999405|0.999405	P;P|.	0.46784|.	0.884;0.783|.	B;B|.	0.40506|.	0.331;0.084|.	T|T	0.48559|0.48559	-0.9025|-0.9025	10|5	0.06236|.	T|.	0.91|.	.|.	15.4789|15.4789	0.75508|0.75508	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	816;843|.	Q9HC29-2;Q9HC29|.	.;NOD2_HUMAN|.	K|Q	816;843|82	ENSP00000300589:E843K|.	ENSP00000300589:E843K|.	E|R	+|+	1|2	0|0	NOD2|NOD2	49308063|49308063	1.000000|1.000000	0.71417|0.71417	0.198000|0.198000	0.23420|0.23420	0.146000|0.146000	0.21551|0.21551	3.056000|3.056000	0.49923|0.49923	2.719000|2.719000	0.93026|0.93026	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.493	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		9	18	0	0	0	1	0	9	18				
ZNF287	57336	broad.mit.edu	37	17	16456237	16456237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16456237G>A	ENST00000395824.1	-	6	1836	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF287_ENST00000395825.3_Missense_Mutation_p.H407Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	400					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GATGAGATATGCCTAAACTCT	0.433																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1219-1221)Cat>Tat		zinc finger protein 287							191.0	172.0	179.0					17																	16456237		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456237G>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1219C>T	17.37:g.16456237G>A	ENSP00000379168:p.His407Tyr					ZNF287_ENST00000395825.3_Missense_Mutation_p.H407Y	p.H407Y			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1836	-			400					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1219C>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	7.628	0.678230	0.14841	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.17854	2.25;2.25	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000033	T	0.08179	0.0204	N	0.13043	0.29	0.22896	N	0.998594	P	0.42827	0.791	B	0.32677	0.15	T	0.30679	-0.9970	10	0.32370	T	0.25	.	10.1348	0.42699	0.0882:0.0:0.9118:0.0	.	400	Q9HBT7	ZN287_HUMAN	Y	407	ENSP00000379169:H407Y;ENSP00000379168:H407Y	ENSP00000379168:H407Y	H	-	1	0	ZNF287	16396962	0.000000	0.05858	0.971000	0.41717	0.075000	0.17131	0.487000	0.22356	2.941000	0.99782	0.655000	0.94253	CAT		0.433	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			19	148	0	0	0	1	0	19	148				
ZNF77	58492	broad.mit.edu	37	19	2934794	2934794	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2934794A>G	ENST00000314531.4	-	4	423	c.331T>C	c.(331-333)Tgt>Cgt	p.C111R		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTTTCACAGAGTCTCCCC	0.413																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(331-333)Tgt>Cgt		zinc finger protein 77							94.0	89.0	91.0					19																	2934794		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934794A>G	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.331T>C	19.37:g.2934794A>G	ENSP00000319053:p.Cys111Arg						p.C111R	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	423	-			111					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.331T>C	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441237	0.25900	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.14266	2.52	2.77	1.74	0.24563	.	.	.	.	.	T	0.08223	0.0205	N	0.24115	0.695	0.09310	N	0.999999	B	0.22414	0.069	B	0.20767	0.031	T	0.39643	-0.9604	9	0.25106	T	0.35	.	6.0259	0.19654	0.8631:0.0:0.1369:0.0	.	111	Q15935	ZNF77_HUMAN	R	3;111	ENSP00000319053:C111R	ENSP00000319053:C111R	C	-	1	0	ZNF77	2885794	0.998000	0.40836	0.000000	0.03702	0.048000	0.14542	0.939000	0.28978	0.310000	0.22990	0.402000	0.26972	TGT		0.413	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		49	65	0	0	0	1	0	49	65				
GON4L	54856	broad.mit.edu	37	1	155717733	155717733	+	IGR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155717733G>T	ENST00000368331.1	-	0	7640				MSTO1_ENST00000452804.2_Missense_Mutation_p.V314L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATTGGGAGAGTGGCTTAATG	0.488																																						ENST00000452804.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(940-942)Gtg>Ttg		misato 1, mitochondrial distribution and morphology regulator																																				SO:0001628	intergenic_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155717733G>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106		1.37:g.155717733G>T							p.V314L			Q9BUK6	MSTO1_HUMAN			7	1001	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		0					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.940G>T		.	.	.	.	.	.	.	.	.	.	G	1.125	-0.653994	0.03480	.	.	ENSG00000125459	ENST00000452804	.	.	.	3.67	0.534	0.17127	.	.	.	.	.	T	0.05593	0.0147	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41215	-0.9521	7	0.18276	T	0.48	.	3.4557	0.07514	0.33:0.0:0.4948:0.1752	.	314	B4DF47	.	L	314	.	ENSP00000440200:V314L	V	+	1	0	MSTO1	153984357	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.347000	0.07750	0.013000	0.14918	0.499000	0.49734	GTG		0.488	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		4	30	1	0	0.150653	1	0.152692	4	30				
PHACTR3	116154	broad.mit.edu	37	20	58342331	58342331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58342331C>T	ENST00000371015.1	+	5	1099	c.632C>T	c.(631-633)gCt>gTt	p.A211V	PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A170V|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A170V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A208V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A170V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	211						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTAGCTGGGGCTGACTCCCTG	0.622																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(631-633)gCt>gTt		phosphatase and actin regulator 3							48.0	45.0	46.0					20																	58342331		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342331C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.632C>T	20.37:g.58342331C>T	ENSP00000360054:p.Ala211Val					PHACTR3_ENST00000359926.3_Missense_Mutation_p.A208V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A170V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A170V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A170V|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron	p.A211V	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1099	+	all_lung(29;0.00344)		211					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.632C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267640	0.40095	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.23754	1.91;1.9;1.89;1.89;1.89	4.29	4.29	0.51040	.	1.187920	0.05845	N	0.620153	T	0.16128	0.0388	N	0.03608	-0.345	0.23577	N	0.997378	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17715	-1.0360	10	0.30854	T	0.27	.	15.7127	0.77644	0.0:1.0:0.0:0.0	.	211;208	Q96KR7;B1AKX0	PHAR3_HUMAN;.	V	208;211;170;170;170	ENSP00000353002:A208V;ENSP00000360054:A211V;ENSP00000442483:A170V;ENSP00000347866:A170V;ENSP00000378998:A170V	ENSP00000347866:A170V	A	+	2	0	PHACTR3	57775726	0.999000	0.42202	0.941000	0.38009	0.823000	0.46562	5.323000	0.65858	1.943000	0.56356	0.460000	0.39030	GCT		0.622	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		7	42	0	0	0	1	0	7	42				
SLC5A8	160728	broad.mit.edu	37	12	101587498	101587498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101587498T>C	ENST00000536262.2	-	5	1155	c.597A>G	c.(595-597)ggA>ggG	p.G199G		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGGATGCAAATCCAGCCACCA	0.393																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(595-597)ggA>ggG		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							178.0	164.0	169.0					12																	101587498		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101587498T>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.597A>G	12.37:g.101587498T>C							p.G199G	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			5	1155	-			199						Silent	SNP	ENST00000536262.2	37	c.597A>G	CCDS9080.1																																																																																				0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		46	83	0	0	0	1	0	46	83				
CCNB3	85417	broad.mit.edu	37	X	50053092	50053092	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053092A>G	ENST00000376042.1	+	6	2221	c.1923A>G	c.(1921-1923)gcA>gcG	p.A641A	CCNB3_ENST00000276014.7_Silent_p.A641A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	641					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AACCATCTGCATTGAAAGAGA	0.453																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1921-1923)gcA>gcG		cyclin B3							51.0	44.0	47.0					X																	50053092		2202	4300	6502	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053092A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1923A>G	X.37:g.50053092A>G						CCNB3_ENST00000276014.7_Silent_p.A641A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron	p.A641A			Q8WWL7	CCNB3_HUMAN			6	2221	+	Ovarian(276;0.236)		641					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.1923A>G	CCDS14331.1																																																																																				0.453	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			5	24	0	0	0	1	0	5	24				
XRN2	22803	broad.mit.edu	37	20	21367644	21367644	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21367644G>T	ENST00000377191.3	+	29	2882	c.2787G>T	c.(2785-2787)caG>caT	p.Q929H	XRN2_ENST00000430571.2_Splice_Site_p.Q853H|XRN2_ENST00000539513.1_Splice_Site_p.Q875H	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	929					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAGGGAGACAGGTAAATGGTT	0.483																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.e29+1		5'-3' exoribonuclease 2							87.0	81.0	83.0					20																	21367644		2203	4300	6503	SO:0001630	splice_region_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21367644G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2787+1G>T	20.37:g.21367644G>T						XRN2_ENST00000539513.1_Splice_Site_p.Q875_splice|XRN2_ENST00000430571.2_Splice_Site_p.Q853_splice	p.Q929_splice	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			29	2882	+			929					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Splice_Site	SNP	ENST00000377191.3	37	c.2787_splice	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395213	0.62066	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.33216	1.42;1.42;1.42	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000004	T	0.23727	0.0574	N	0.24115	0.695	0.80722	D	1	P	0.41041	0.736	B	0.35550	0.205	T	0.03545	-1.1026	10	0.66056	D	0.02	-11.3226	18.1662	0.89727	0.0:0.0:1.0:0.0	.	929	Q9H0D6	XRN2_HUMAN	H	929;853;875	ENSP00000366396:Q929H;ENSP00000413548:Q853H;ENSP00000441113:Q875H	ENSP00000366396:Q929H	Q	+	3	2	XRN2	21315644	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.421000	0.73353	2.824000	0.97209	0.655000	0.94253	CAG		0.483	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	Missense_Mutation	25	40	1	0	1.2476e-16	1	1.61147e-16	25	40				
CDAN1	146059	broad.mit.edu	37	15	43021271	43021271	+	Silent	SNP	G	G	A	rs139104502	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43021271G>A	ENST00000356231.3	-	19	2618	c.2595C>T	c.(2593-2595)acC>acT	p.T865T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	865					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGAACTCTACGGTCCGGCGCA	0.562																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(2593-2595)acC>acT		codanin 1		G		0,4406		0,0,2203	99.0	98.0	98.0		2595	-2.5	1.0	15	dbSNP_134	98	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	CDAN1	NM_138477.2		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		865/1228	43021271	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	146059					integral to membrane	protein binding	g.chr15:43021271G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2595C>T	15.37:g.43021271G>A							p.T865T	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	19	2618	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	865					Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	c.2595C>T	CCDS32209.1																																																																																				0.562	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		6	79	0	0	0	1	0	6	79				
CD1A	909	broad.mit.edu	37	1	158225851	158225851	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158225851G>T	ENST00000289429.5	+	3	916	c.383G>T	c.(382-384)gGa>gTa	p.G128V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	128					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAGGTCTCAGGAAGCTTCTTG	0.438																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(382-384)gGa>gTa		CD1a molecule	Antithymocyte globulin(DB00098)						87.0	83.0	85.0					1																	158225851		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225851G>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.383G>T	1.37:g.158225851G>T	ENSP00000289429:p.Gly128Val						p.G128V	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	916	+	all_hematologic(112;0.0378)		128					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.383G>T	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	3.307	-0.141660	0.06669	.	.	ENSG00000158477	ENST00000289429	T	0.00711	5.8	4.35	-8.69	0.00855	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.778210	0.03334	N	0.193760	T	0.00109	0.0003	N	0.02721	-0.515	0.09310	N	0.999999	B	0.16396	0.017	B	0.14578	0.011	T	0.46442	-0.9191	10	0.23302	T	0.38	0.1828	1.1889	0.01861	0.3412:0.3131:0.1924:0.1533	.	128	P06126	CD1A_HUMAN	V	128	ENSP00000289429:G128V	ENSP00000289429:G128V	G	+	2	0	CD1A	156492475	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.464000	0.02359	-3.269000	0.00200	-0.503000	0.04515	GGA		0.438	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		9	98	1	0	0.000673444	1	0.000724755	9	98				
ZSCAN29	146050	broad.mit.edu	37	15	43661813	43661813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43661813G>T	ENST00000396976.2	-	1	433	c.299C>A	c.(298-300)cCt>cAt	p.P100H	TUBGCP4_ENST00000570081.1_3'UTR|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P99H|ZSCAN29_ENST00000563508.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.P100H|TUBGCP4_ENST00000564079.1_5'Flank|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.P99H	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	100	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTCTTCCAGGCTCTCTTTC	0.463																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(298-300)cCt>cAt		zinc finger and SCAN domain containing 29							103.0	113.0	110.0					15																	43661813		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43661813G>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.299C>A	15.37:g.43661813G>T	ENSP00000380174:p.Pro100His					ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P99H|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.P100H|TUBGCP4_ENST00000570081.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.P99H	p.P100H	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	1	433	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	100			SCAN box.		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.299C>A	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237160	0.39498	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.05139	3.49;3.49	4.79	2.9	0.33743	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.136446	0.33938	N	0.004417	T	0.22282	0.0537	M	0.84773	2.715	0.80722	D	1	D;P;D;D	0.71674	0.985;0.454;0.998;0.99	P;B;D;P	0.67548	0.606;0.314;0.952;0.739	T	0.01114	-1.1447	10	0.35671	T	0.21	-1.423	9.3672	0.38232	0.1769:0.0:0.8231:0.0	.	100;99;100;100	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	H	100	ENSP00000380174:P100H;ENSP00000380170:P100H	ENSP00000380170:P100H	P	-	2	0	ZSCAN29	41449105	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	0.693000	0.25497	0.725000	0.32318	0.655000	0.94253	CCT		0.463	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		6	79	1	0	2.0095e-06	1	2.31757e-06	6	79				
SERPINA3	12	broad.mit.edu	37	14	95080923	95080923	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95080923T>A	ENST00000467132.1	+	2	1293	c.145T>A	c.(145-147)Tta>Ata	p.L49I	SERPINA3_ENST00000393078.3_Missense_Mutation_p.L49I|SERPINA3_ENST00000393080.4_Missense_Mutation_p.L49I|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	49					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGACCTCGGATTAGCCTCCGC	0.562																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(220-222)Tta>Ata		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							126.0	119.0	122.0					14																	95080923		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080923T>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.145T>A	14.37:g.95080923T>A	ENSP00000450540:p.Leu49Ile					SERPINA3_ENST00000393080.4_Missense_Mutation_p.L49I|SERPINA3_ENST00000467132.1_Missense_Mutation_p.L49I|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L49I	p.L74I			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	5	1108	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	49					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.220T>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380627	0.24944	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.62	-4.1	0.03940	Serpin domain (1);	0.395799	0.14830	N	0.295905	T	0.81550	0.4846	N	0.19112	0.55	0.09310	N	1	B;B	0.20052	0.004;0.041	B;B	0.44133	0.097;0.442	T	0.73325	-0.4018	10	0.87932	D	0	.	0.4837	0.00552	0.2619:0.2867:0.2358:0.2155	.	49;74	P01011;G3V5I3	AACT_HUMAN;.	I	74;49;49;49;49;49	ENSP00000452367:L74I;ENSP00000376793:L49I;ENSP00000376795:L49I;ENSP00000450540:L49I	ENSP00000369712:L49I	L	+	1	2	SERPINA3	94150676	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.605000	0.00209	-0.331000	0.08501	0.459000	0.35465	TTA		0.562	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		10	87	0	0	0	1	0	10	87				
F8	2157	broad.mit.edu	37	X	154132706	154132706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154132706C>T	ENST00000360256.4	-	17	5880	c.5680G>A	c.(5680-5682)Gaa>Aaa	p.E1894K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1894	F5/8 type A 3.|Plastocyanin-like 6.		E -> G (in HEMA; moderate). {ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:9452104}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAGCAAATTCCTGTACTGTC	0.468																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM053257	F8	M		c.(5680-5682)Gaa>Aaa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						201.0	174.0	183.0					X																	154132706		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154132706C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5680G>A	X.37:g.154132706C>T	ENSP00000353393:p.Glu1894Lys						p.E1894K	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			17	5880	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1894		E -> G (in HEMA; moderate).	F5/8 type A 3.|Plastocyanin-like 6.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5680G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579831	0.86645	.	.	ENSG00000185010	ENST00000360256	D	0.98120	-4.73	4.51	4.51	0.55191	Cupredoxin (2);	0.159840	0.56097	D	0.000039	D	0.98720	0.9570	M	0.87180	2.865	0.58432	D	0.999998	D;D	0.76494	0.999;0.996	D;D	0.72338	0.968;0.977	D	0.99671	1.0996	10	0.72032	D	0.01	-22.9848	15.6443	0.77036	0.0:1.0:0.0:0.0	.	22;1894	Q2VF45;P00451	.;FA8_HUMAN	K	1894	ENSP00000353393:E1894K	ENSP00000353393:E1894K	E	-	1	0	F8	153785900	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.340000	0.79292	2.187000	0.69744	0.523000	0.50628	GAA		0.468	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			77	145	0	0	0	1	0	77	145				
NAV3	89795	broad.mit.edu	37	12	78593207	78593207	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78593207A>G	ENST00000397909.2	+	37	6784	c.6611A>G	c.(6610-6612)aAc>aGc	p.N2204S	NAV3_ENST00000266692.7_Missense_Mutation_p.N2005S|NAV3_ENST00000536525.2_Missense_Mutation_p.N2182S|NAV3_ENST00000541270.1_Missense_Mutation_p.N34S|NAV3_ENST00000228327.6_Missense_Mutation_p.N2182S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2204						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGAAAGGAACATTCGCAAT	0.368										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6610-6612)aAc>aGc		neuron navigator 3							108.0	107.0	107.0					12																	78593207		1838	4090	5928	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593207A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6611A>G	12.37:g.78593207A>G	ENSP00000381007:p.Asn2204Ser	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.N2182S|NAV3_ENST00000228327.6_Missense_Mutation_p.N2182S|NAV3_ENST00000541270.1_Missense_Mutation_p.N34S|NAV3_ENST00000266692.7_Missense_Mutation_p.N2005S	p.N2204S			Q8IVL0	NAV3_HUMAN			37	6784	+			2204					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6611A>G		.	.	.	.	.	.	.	.	.	.	A	12.05	1.822445	0.32237	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	T;T;T;T;T	0.42131	1.75;1.75;1.75;1.66;0.98	5.71	5.71	0.89125	.	0.000000	0.42821	U	0.000641	T	0.29223	0.0727	L	0.27053	0.805	0.58432	D	0.999998	B;B;B;B	0.11235	0.001;0.0;0.004;0.003	B;B;B;B	0.13407	0.005;0.004;0.009;0.009	T	0.10941	-1.0608	10	0.16896	T	0.51	-26.535	12.1151	0.53860	0.9313:0.0:0.0687:0.0	.	2182;2005;2204;2182	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	S	2182;2204;2182;2005;34	ENSP00000446132:N2182S;ENSP00000381007:N2204S;ENSP00000228327:N2182S;ENSP00000266692:N2005S;ENSP00000444918:N34S	ENSP00000228327:N2182S	N	+	2	0	NAV3	77117338	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	3.178000	0.50879	2.307000	0.77673	0.528000	0.53228	AAC		0.368	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		4	75	0	0	0	1	0	4	75				
N4BP1	9683	broad.mit.edu	37	16	48596022	48596022	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596022A>G	ENST00000262384.3	-	2	768	c.532T>C	c.(532-534)Ttg>Ctg	p.L178L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	178					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAAGTGGGCAAAATCAACAAA	0.383																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(532-534)Ttg>Ctg		NEDD4 binding protein 1							104.0	94.0	97.0					16																	48596022		1859	4097	5956	SO:0001819	synonymous_variant	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48596022A>G	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.532T>C	16.37:g.48596022A>G						RP11-44I10.3_ENST00000563994.1_RNA	p.L178L	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	768	-		all_cancers(37;0.179)|all_lung(18;0.11)	178					A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	37	c.532T>C	CCDS45479.1																																																																																				0.383	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		17	40	0	0	0	1	0	17	40				
USP32	84669	broad.mit.edu	37	17	58275770	58275770	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58275770C>T	ENST00000300896.4	-	27	3479	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K	USP32_ENST00000592339.1_Silent_p.K765K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1095	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGGGCGATTCTTCTGAGATG	0.443																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3283-3285)aaG>aaA		ubiquitin specific peptidase 32							148.0	135.0	139.0					17																	58275770		2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58275770C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3285G>A	17.37:g.58275770C>T						USP32_ENST00000592339.1_Silent_p.K765K	p.K1095K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		27	3479	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1095					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.3285G>A	CCDS32697.1																																																																																				0.443	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		25	40	0	0	0	1	0	25	40				
NAPSA	9476	broad.mit.edu	37	19	50864331	50864331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864331C>T	ENST00000253719.2	-	5	743	c.535G>A	c.(535-537)Gct>Act	p.A179T	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	179					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGGGCAAAAGCGAAGACCAGG	0.522																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(535-537)Gct>Act		napsin A aspartic peptidase							101.0	101.0	101.0					19																	50864331		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864331C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.535G>A	19.37:g.50864331C>T	ENSP00000253719:p.Ala179Thr					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.A179T	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	743	-		all_neural(266;0.057)	179					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.535G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222666	0.22457	.	.	ENSG00000131400	ENST00000253719	T	0.58506	0.33	4.09	-0.728	0.11162	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.467665	0.25419	N	0.030815	T	0.34366	0.0895	N	0.13371	0.34	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17899	-1.0354	10	0.40728	T	0.16	.	9.1377	0.36883	0.0:0.5219:0.0:0.4781	.	179	O96009	NAPSA_HUMAN	T	179	ENSP00000253719:A179T	ENSP00000253719:A179T	A	-	1	0	NAPSA	55556143	0.000000	0.05858	0.559000	0.28332	0.816000	0.46133	-2.368000	0.01077	-0.149000	0.11215	-0.573000	0.04149	GCT		0.522	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		5	124	0	0	0	1	0	5	124				
PCDHB1	29930	broad.mit.edu	37	5	140432410	140432410	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140432410T>C	ENST00000306549.3	+	1	1432	c.1355T>C	c.(1354-1356)tTt>tCt	p.F452S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	452	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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCAATATTTCGGGAAGAT	0.433																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1354-1356)tTt>tCt									89.0	87.0	87.0					5																	140432410		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432410T>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1355T>C	5.37:g.140432410T>C	ENSP00000307234:p.Phe452Ser						p.F452S	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1432	+			452			Cadherin 4.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1355T>C	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548522	0.65311	.	.	ENSG00000171815	ENST00000306549	T	0.79454	-1.27	6.17	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.000000	0.46145	D	0.000317	D	0.91543	0.7329	H	0.98786	4.33	0.46458	D	0.999058	D	0.69078	0.997	P	0.59643	0.861	D	0.93726	0.7037	10	0.87932	D	0	.	12.7379	0.57236	0.1232:0.0:0.0:0.8768	.	452	Q9Y5F3	PCDB1_HUMAN	S	452	ENSP00000307234:F452S	ENSP00000307234:F452S	F	+	2	0	PCDHB1	140412594	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	5.108000	0.64609	1.140000	0.42260	0.533000	0.62120	TTT		0.433	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		5	88	0	0	0	1	0	5	88				
OR1N1	138883	broad.mit.edu	37	9	125289054	125289054	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125289054A>G	ENST00000304880.2	-	1	518	c.519T>C	c.(517-519)gcT>gcC	p.A173A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGAAAAAGTGAGCAATTTCCC	0.502																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(517-519)gcT>gcC		olfactory receptor, family 1, subfamily N, member 1							93.0	82.0	86.0					9																	125289054		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289054A>G	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.519T>C	9.37:g.125289054A>G							p.A173A	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	518	-			173					A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.519T>C	CCDS6844.1																																																																																				0.502	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			7	18	0	0	0	1	0	7	18				
ZNF213	7760	broad.mit.edu	37	16	3190967	3190967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3190967G>A	ENST00000396878.3	+	6	1474	c.999G>A	c.(997-999)gcG>gcA	p.A333A	ZNF213_ENST00000576416.1_Silent_p.A333A|ZNF213_ENST00000574902.1_Silent_p.A333A|ZNF213_ENST00000416391.2_Silent_p.A175A	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	333					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGACCTGGCGCGGCACCAGC	0.706																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(997-999)gcG>gcA		zinc finger protein 213							16.0	17.0	17.0					16																	3190967		2194	4293	6487	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3190967G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.999G>A	16.37:g.3190967G>A						ZNF213_ENST00000416391.2_Silent_p.A175A|ZNF213_ENST00000576416.1_Silent_p.A333A|ZNF213_ENST00000574902.1_Silent_p.A333A	p.A333A	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			6	1474	+			333					A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.999G>A	CCDS10495.1																																																																																				0.706	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		4	7	0	0	0	1	0	4	7				
GFAP	2670	broad.mit.edu	37	17	42992534	42992534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42992534C>A	ENST00000253408.5	-	1	386	c.321G>T	c.(319-321)aaG>aaT	p.K107N	GFAP_ENST00000435360.2_Missense_Mutation_p.K107N|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.K107N|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	107	Linker 1.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGTGGGCTCCTTGGCCCGCA	0.617																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(319-321)aaG>aaT		glial fibrillary acidic protein							70.0	60.0	63.0					17																	42992534		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992534C>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.321G>T	17.37:g.42992534C>A	ENSP00000253408:p.Lys107Asn					GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.K107N|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.K107N	p.K107N	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			1	386	-		Prostate(33;0.0959)	107			Linker 1.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.321G>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464835	0.63513	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.90069	-2.61;-2.61;-2.61	4.69	1.44	0.22558	Filament (1);	0.263419	0.36066	N	0.002804	D	0.89371	0.6696	M	0.67953	2.075	0.34075	D	0.658877	P;B	0.36354	0.549;0.318	P;B	0.46049	0.502;0.371	D	0.91462	0.5190	10	0.72032	D	0.01	.	10.9365	0.47249	0.0:0.5666:0.3618:0.0717	.	107;107	E9PAX3;P14136	.;GFAP_HUMAN	N	107;82;107;107	ENSP00000253408:K107N;ENSP00000403962:K107N;ENSP00000366189:K107N	ENSP00000253408:K107N	K	-	3	2	GFAP	40348060	0.995000	0.38212	0.998000	0.56505	0.981000	0.71138	0.400000	0.20932	0.630000	0.30394	0.462000	0.41574	AAG		0.617	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		17	46	1	0	0.00498961	1	0.00524755	17	46				
FRMD4A	55691	broad.mit.edu	37	10	13701455	13701455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13701455G>A	ENST00000357447.2	-	21	2302	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	645	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.A645V(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGGCTTCCGCACAGCTTCC	0.657																																						ENST00000357447.2																			1	Substitution - Missense(1)	p.A645V(1)	pancreas(1)	breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1933-1935)gCg>gTg		FERM domain containing 4A							38.0	40.0	39.0					10																	13701455		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13701455G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1934C>T	10.37:g.13701455G>A	ENSP00000350032:p.Ala645Val					FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V	p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			21	2302	-			645			Ser-rich.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1934C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987650	0.53934	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83075	-1.68;-1.68;-1.68	5.52	5.52	0.82312	.	0.188607	0.44688	D	0.000421	T	0.68641	0.3023	N	0.14661	0.345	0.33841	D	0.631388	P	0.41131	0.739	B	0.25614	0.062	T	0.78685	-0.2108	10	0.52906	T	0.07	-11.4806	19.4415	0.94823	0.0:0.0:1.0:0.0	.	645	Q9P2Q2	FRM4A_HUMAN	V	630;645;645	ENSP00000351438:A630V;ENSP00000350032:A645V;ENSP00000367764:A645V	ENSP00000350032:A645V	A	-	2	0	FRMD4A	13741461	1.000000	0.71417	0.053000	0.19242	0.598000	0.36846	6.399000	0.73248	2.592000	0.87571	0.561000	0.74099	GCG		0.657	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		18	33	0	0	0	1	0	18	33				
ZNF33A	7581	broad.mit.edu	37	10	38306250	38306250	+	Missense_Mutation	SNP	C	C	A	rs200514214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38306250C>A	ENST00000458705.2	+	4	344	c.186C>A	c.(184-186)ttC>ttA	p.F62L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.F62L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.F69L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.F62L|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.F62L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGTGATCTTCAGGCTGCAAC	0.443																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(184-186)ttC>ttA		zinc finger protein 33A							151.0	145.0	147.0					10																	38306250		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38306250C>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.186C>A	10.37:g.38306250C>A	ENSP00000387713:p.Phe62Leu					ZNF33A_ENST00000307441.9_Missense_Mutation_p.F62L|ZNF33A_ENST00000469037.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.F69L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000476504.1_3'UTR	p.F62L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			4	364	+			62			KRAB.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.186C>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	7.188	0.590980	0.13812	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441;ENST00000265892	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.58	3.58	0.41010	Krueppel-associated box (3);	.	.	.	.	T	0.27559	0.0677	N	0.16478	0.41	0.22446	N	0.999091	B;B;B;B	0.16166	0.001;0.001;0.0;0.016	B;B;B;B	0.21546	0.001;0.004;0.001;0.035	T	0.12016	-1.0564	9	0.27082	T	0.32	.	10.8649	0.46849	0.0:1.0:0.0:0.0	.	69;62;62;62	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	L	62;69;62;62;62;22	ENSP00000363747:F62L;ENSP00000402467:F69L;ENSP00000387713:F62L;ENSP00000304268:F62L	ENSP00000265892:F22L	F	+	3	2	ZNF33A	38346256	0.982000	0.34865	1.000000	0.80357	0.543000	0.35085	3.007000	0.49536	2.010000	0.58986	0.462000	0.41574	TTC		0.443	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		8	122	1	0	3.09899e-07	1	3.63227e-07	8	122				
CCNT2	905	broad.mit.edu	37	2	135711150	135711150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711150C>T	ENST00000264157.5	+	9	1155	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	CCNT2_ENST00000537343.1_Silent_p.S200S|CCNT2_ENST00000295238.6_Silent_p.S375S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	375					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGTCTGGTAGCCAGTACAACA	0.423																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1123-1125)agC>agT		cyclin T2							115.0	110.0	112.0					2																	135711150		2203	4300	6503	SO:0001819	synonymous_variant	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135711150C>T	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1125C>T	2.37:g.135711150C>T						CCNT2_ENST00000537343.1_Silent_p.S200S|CCNT2_ENST00000295238.6_Silent_p.S375S	p.S375S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	1155	+			375					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	ENST00000264157.5	37	c.1125C>T	CCDS2174.1																																																																																				0.423	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		55	67	0	0	0	1	0	55	67				
OR4A5	81318	broad.mit.edu	37	11	51411583	51411583	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:51411583A>C	ENST00000319760.6	-	1	865	c.813T>G	c.(811-813)ttT>ttG	p.F271L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAATGGTATAAAACACAGTCA	0.348																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(811-813)ttT>ttG		olfactory receptor, family 4, subfamily A, member 5							48.0	48.0	48.0					11																	51411583		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411583A>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.813T>G	11.37:g.51411583A>C	ENSP00000367664:p.Phe271Leu						p.F271L	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	865	-		all_lung(304;0.236)	271					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.813T>G	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	2.404	-0.336956	0.05278	.	.	ENSG00000221840	ENST00000319760	T	0.00032	8.88	2.2	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.466873	0.17871	N	0.159197	T	0.00144	0.0004	L	0.47078	1.49	0.09310	N	1	B	0.10296	0.003	B	0.24006	0.05	T	0.42732	-0.9434	10	0.72032	D	0.01	.	2.6704	0.05065	0.5534:0.2782:0.1685:0.0	.	271	Q8NH83	OR4A5_HUMAN	L	271	ENSP00000367664:F271L	ENSP00000367664:F271L	F	-	3	2	OR4A5	51268159	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.356000	0.02609	0.294000	0.22547	0.136000	0.15936	TTT		0.348	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		27	22	0	0	0	1	0	27	22				
ELF2	1998	broad.mit.edu	37	4	139981791	139981791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981791C>A	ENST00000394235.2	-	9	1310	c.808G>T	c.(808-810)Gga>Tga	p.G270*	ELF2_ENST00000510408.1_Nonsense_Mutation_p.G210*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.G270*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.G222*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.G282*|ELF2_ENST00000515489.1_5'Flank|ELF2_ENST00000379549.2_Nonsense_Mutation_p.G193*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					AGCCTCTGTCCTTCAACCTTT	0.398																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(808-810)Gga>Tga		E74-like factor 2 (ets domain transcription factor)							98.0	100.0	99.0					4																	139981791		2203	4300	6503	SO:0001587	stop_gained	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139981791C>A	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.808G>T	4.37:g.139981791C>A	ENSP00000377782:p.Gly270*					ELF2_ENST00000379549.2_Nonsense_Mutation_p.G193*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.G222*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.G282*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.G210*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.G270*	p.G270*	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			9	1310	-	all_hematologic(180;0.162)		282						Nonsense_Mutation	SNP	ENST00000394235.2	37	c.808G>T	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	36	5.894010	0.97074	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408;ENST00000420916;ENST00000512627	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8861	0.96913	0.0:1.0:0.0:0.0	.	.	.	.	X	222;270;282;270;193;85;210;193;181	.	.	G	-	1	0	ELF2	140201241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGA		0.398	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		44	83	1	0	1.30409e-13	1	1.65622e-13	44	83				
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55739531T>C	ENST00000370830.3	-	1	831	c.133A>G	c.(133-135)Aac>Gac	p.N45D	BMP5_ENST00000446683.2_Missense_Mutation_p.N45D	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(133-135)Aac>Gac		bone morphogenetic protein 5							193.0	181.0	185.0					6																	55739531		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739531T>C		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.133A>G	6.37:g.55739531T>C	ENSP00000359866:p.Asn45Asp					BMP5_ENST00000446683.2_Missense_Mutation_p.N45D	p.N45D	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	831	-	Lung NSC(77;0.0462)		45					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.133A>G	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678330	0.47886	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.63913	-0.07;-0.07	5.72	5.72	0.89469	Transforming growth factor-beta, N-terminal (1);	0.100085	0.64402	D	0.000002	T	0.49813	0.1579	L	0.31207	0.915	0.58432	D	0.999998	P;P	0.47191	0.891;0.772	P;P	0.49192	0.602;0.602	T	0.55029	-0.8204	10	0.48119	T	0.1	.	15.9912	0.80206	0.0:0.0:0.0:1.0	.	45;45	B4E0Y4;P22003	.;BMP5_HUMAN	D	45	ENSP00000359866:N45D;ENSP00000391818:N45D	ENSP00000359866:N45D	N	-	1	0	BMP5	55847490	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.289000	0.72696	2.172000	0.68678	0.533000	0.62120	AAC		0.463	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			54	81	0	0	0	1	0	54	81				
MCM10	55388	broad.mit.edu	37	10	13230881	13230881	+	Splice_Site	SNP	C	C	T	rs537053945	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13230881C>T	ENST00000484800.2	+	10	1322	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	MCM10_ENST00000378714.3_Splice_Site_p.R406C|MCM10_ENST00000378694.1_Splice_Site_p.R406C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	407	Zinc finger-like 1.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCTTTTGCAGCGTGACTGTGA	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		19018	0.0		0.0	False		,,,				2504	0.002					ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.e9-1		minichromosome maintenance complex component 10							130.0	121.0	124.0					10																	13230881		2203	4300	6503	SO:0001630	splice_region_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13230881C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1219-1C>T	10.37:g.13230881C>T						MCM10_ENST00000484800.2_Splice_Site_p.R407_splice|MCM10_ENST00000378714.3_Splice_Site_p.R406_splice	p.R406_splice			Q7L590	MCM10_HUMAN			9	1291	+			407			Zinc finger-like.		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Splice_Site	SNP	ENST00000484800.2	37	c.1215_splice	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477403	0.26511	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.51325	0.71;0.71;0.71	5.77	0.687	0.18020	Zinc finger, Mcm10/DnaG-type (1);	0.842694	0.11425	N	0.565343	T	0.47673	0.1458	L	0.54965	1.715	0.38890	D	0.957099	P;P;P	0.47762	0.9;0.572;0.626	P;B;B	0.44359	0.447;0.123;0.195	T	0.51490	-0.8699	9	.	.	.	-12.4698	15.2603	0.73617	0.4673:0.5327:0.0:0.0	.	406;406;407	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	C	406;407;407;406	ENSP00000367986:R406C;ENSP00000418268:R407C;ENSP00000367966:R406C	.	R	+	1	0	MCM10	13270887	0.998000	0.40836	0.091000	0.20842	0.013000	0.08279	3.637000	0.54324	-0.051000	0.13334	0.655000	0.94253	CGT		0.557	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	Missense_Mutation	43	93	0	0	0	1	0	43	93				
LAMA5	3911	broad.mit.edu	37	20	60903418	60903418	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60903418G>T	ENST00000252999.3	-	35	4597	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1511	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCTGGCACAGCAGGCAGTCG	0.677																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4531-4533)Ctg>Atg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						20.0	21.0	21.0					20																	60903418		2183	4288	6471	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60903418G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4531C>A	20.37:g.60903418G>T	ENSP00000252999:p.Leu1511Met						p.L1511M	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		35	4597	-	Breast(26;1.57e-08)		1511			Laminin EGF-like 13.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4531C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737332	0.30774	.	.	ENSG00000130702	ENST00000252999	T	0.18960	2.18	4.48	-0.593	0.11667	EGF-like, laminin (1);	1.066660	0.07263	N	0.867841	T	0.09949	0.0244	N	0.04880	-0.145	0.09310	N	1	P	0.34997	0.479	B	0.29353	0.101	T	0.29792	-1.0000	10	0.46703	T	0.11	.	9.8953	0.41316	0.0:0.688:0.2172:0.0948	.	1511	O15230	LAMA5_HUMAN	M	1511	ENSP00000252999:L1511M	ENSP00000252999:L1511M	L	-	1	2	LAMA5	60336813	0.001000	0.12720	0.000000	0.03702	0.857000	0.48899	0.060000	0.14342	-0.511000	0.06514	0.462000	0.41574	CTG		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	4	1	0	0.000602214	1	0.000649039	3	4				
NOS1	4842	broad.mit.edu	37	12	117655919	117655919	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117655919G>A	ENST00000338101.4	-	28	4327	c.4323C>T	c.(4321-4323)taC>taT	p.Y1441Y	NOS1_ENST00000317775.6_Silent_p.Y1407Y|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGGTCACTTCGTACGTTCGCA	0.488																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4219-4221)taC>taT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						318.0	312.0	314.0					12																	117655919		1974	4165	6139	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117655919G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4323C>T	12.37:g.117655919G>A						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.Y1441Y	p.Y1407Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	28	4906	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1407	Y -> I (in Ref. 3; AAA36376).					Silent	SNP	ENST00000338101.4	37	c.4221C>T	CCDS55890.1																																																																																				0.488	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			10	350	0	0	0	1	0	10	350				
CYP4Z1	199974	broad.mit.edu	37	1	47548008	47548008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47548008C>T	ENST00000334194.3	+	4	370	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	123						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCATAAGGTCGAGGACTTGT	0.448																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(367-369)Cga>Tga		cytochrome P450, family 4, subfamily Z, polypeptide 1							45.0	43.0	43.0					1																	47548008		2203	4300	6503	SO:0001587	stop_gained	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47548008C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.367C>T	1.37:g.47548008C>T	ENSP00000334246:p.Arg123*						p.R123*	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			4	370	+			123					Q5VVE4	Nonsense_Mutation	SNP	ENST00000334194.3	37	c.367C>T	CCDS545.1	.	.	.	.	.	.	.	.	.	.	-	22.6	4.317857	0.81469	.	.	ENSG00000186160	ENST00000334194	.	.	.	2.28	-4.56	0.03431	.	0.794321	0.10192	U	0.704520	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	7.4613	0.27296	0.7074:0.1706:0.122:0.0	.	.	.	.	X	123	.	ENSP00000334246:R123X	R	+	1	2	CYP4Z1	47320595	0.000000	0.05858	0.056000	0.19401	0.972000	0.66771	-1.881000	0.01626	-0.606000	0.05746	0.427000	0.28365	CGA		0.448	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		17	31	0	0	0	1	0	17	31				
ZNF140	7699	broad.mit.edu	37	12	133682649	133682649	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682649A>T	ENST00000355557.2	+	5	2069	c.786A>T	c.(784-786)cgA>cgT	p.R262R	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Silent_p.R159R	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACCTCACTCGACATCAAAGAA	0.413																																						ENST00000355557.2																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(784-786)cgA>cgT		zinc finger protein 140							43.0	44.0	43.0					12																	133682649		2203	4300	6503	SO:0001819	synonymous_variant	7699					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133682649A>T	U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.786A>T	12.37:g.133682649A>T						ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Silent_p.R159R	p.R262R	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	2069	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)	262					D3DXJ3|Q05CP6|Q8IV75	Silent	SNP	ENST00000355557.2	37	c.786A>T	CCDS9282.1																																																																																				0.413	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440		19	24	0	0	0	1	0	19	24				
FAM46D	169966	broad.mit.edu	37	X	79699143	79699143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79699143C>T	ENST00000308293.5	+	3	1344	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	FAM46D_ENST00000538312.1_Missense_Mutation_p.P369S	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	369										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATACCTGAGCCACCCCCCGT	0.413																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1105-1107)Cca>Tca		family with sequence similarity 46, member D							47.0	43.0	45.0					X																	79699143		2203	4298	6501	SO:0001583	missense	169966							g.chrX:79699143C>T	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.1105C>T	X.37:g.79699143C>T	ENSP00000308575:p.Pro369Ser					FAM46D_ENST00000308293.5_Missense_Mutation_p.P369S	p.P369S	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	1439	+			369					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.1105C>T	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	C	0.538	-0.854996	0.02630	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.20881	2.04;2.04	4.93	4.93	0.64822	.	0.502303	0.18478	U	0.140018	T	0.22322	0.0538	L	0.50333	1.59	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.09907	-1.0653	10	0.27785	T	0.31	-1.2687	15.7851	0.78297	0.0:1.0:0.0:0.0	.	369	Q8NEK8	FA46D_HUMAN	S	369	ENSP00000443410:P369S;ENSP00000308575:P369S	ENSP00000308575:P369S	P	+	1	0	FAM46D	79585799	0.996000	0.38824	0.946000	0.38457	0.048000	0.14542	3.554000	0.53720	2.021000	0.59480	0.594000	0.82650	CCA		0.413	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		14	18	0	0	0	1	0	14	18				
CAPN5	726	broad.mit.edu	37	11	76823762	76823762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76823762C>T	ENST00000278559.3	+	4	614	c.425C>T	c.(424-426)aCa>aTa	p.T142I	CAPN5_ENST00000456580.2_Missense_Mutation_p.T182I|CAPN5_ENST00000529629.1_Missense_Mutation_p.T142I|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	142	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGGCTGCCCACAGTCAACAAC	0.597																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(424-426)aCa>aTa		calpain 5							104.0	80.0	88.0					11																	76823762		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76823762C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.425C>T	11.37:g.76823762C>T	ENSP00000278559:p.Thr142Ile					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.T142I|CAPN5_ENST00000456580.2_Missense_Mutation_p.T182I	p.T142I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			4	614	+			142			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.425C>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504147	0.85176	.	.	ENSG00000149260	ENST00000278559;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T	0.17528	2.27;2.27;2.27	4.34	4.34	0.51931	Peptidase C2, calpain, catalytic domain (3);	0.057504	0.64402	D	0.000002	T	0.46852	0.1414	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.69078	0.997;0.977;0.988;0.997	D;P;P;D	0.70716	0.97;0.904;0.904;0.957	T	0.57165	-0.7858	10	0.66056	D	0.02	.	16.0136	0.80420	0.0:1.0:0.0:0.0	.	180;182;182;142	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	I	142;111;182;142;182;182	ENSP00000278559:T142I;ENSP00000432332:T142I;ENSP00000409996:T182I	ENSP00000278559:T142I	T	+	2	0	CAPN5	76501410	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.584000	0.82572	2.243000	0.73865	0.561000	0.74099	ACA		0.597	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		6	36	0	0	0	1	0	6	36				
UCHL3	7347	broad.mit.edu	37	13	76169105	76169105	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76169105G>T	ENST00000377595.3	+	7	559	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	RP11-29G8.3_ENST00000563635.1_RNA|UCHL3_ENST00000606347.1_3'UTR	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	177					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AGTTCATGTAGATGGGCATCT	0.333																																						ENST00000377595.3																			0				kidney(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(529-531)Gat>Tat		ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)							234.0	254.0	247.0					13																	76169105		2203	4296	6499	SO:0001583	missense	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76169105G>T	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.529G>T	13.37:g.76169105G>T	ENSP00000366819:p.Asp177Tyr					UCHL3_ENST00000606347.1_3'UTR|RP11-29G8.3_ENST00000563635.1_RNA	p.D177Y	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	7	559	+			177					B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	c.529G>T	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986587	0.53934	.	.	ENSG00000118939	ENST00000377595;ENST00000377589;ENST00000419068	T;T	0.50548	0.74;0.74	6.07	5.23	0.72850	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.228499	0.46145	D	0.000312	T	0.72211	0.3432	M	0.92555	3.32	0.36875	D	0.889122	D	0.63046	0.992	D	0.63381	0.914	T	0.82530	-0.0411	10	0.87932	D	0	-19.3811	11.5962	0.50975	0.1361:0.0:0.8639:0.0	.	177	P15374	UCHL3_HUMAN	Y	177;198;175	ENSP00000366819:D177Y;ENSP00000398189:D175Y	ENSP00000366813:D198Y	D	+	1	0	UCHL3	75067106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.779000	0.62375	1.582000	0.49881	0.585000	0.79938	GAT		0.333	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		14	213	1	0	4.93089e-13	1	6.23885e-13	14	213				
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1297-1299)Gcg>Acg		oculocutaneous albinism II							152.0	106.0	122.0					15																	28230277		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230277C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1297G>A	15.37:g.28230277C>T	ENSP00000346659:p.Ala433Thr					OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1452	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	433					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1297G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797073	0.31777	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.75;-2.75	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	N	0.00815	-1.16	0.53688	D	0.999974	P;P	0.46277	0.525;0.875	B;P	0.52217	0.072;0.693	T	0.80197	-0.1482	10	0.02654	T	1	-11.1821	18.0938	0.89482	0.0:1.0:0.0:0.0	.	409;433	Q04671-2;Q04671	.;P_HUMAN	T	433;409;433	ENSP00000346659:A433T;ENSP00000261276:A409T;ENSP00000372457:A433T	ENSP00000261276:A409T	A	-	1	0	OCA2	25903872	1.000000	0.71417	0.749000	0.31150	0.460000	0.32559	7.083000	0.76859	2.576000	0.86940	0.655000	0.94253	GCG		0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		13	16	0	0	0	1	0	13	16				
RERGL	79785	broad.mit.edu	37	12	18234205	18234205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18234205C>A	ENST00000229002.2	-	6	744	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	RERGL_ENST00000541632.1_5'Flank|RERGL_ENST00000538724.1_Nonsense_Mutation_p.E179*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	180	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CGTCTCTTTTCTTTGAGTTTG	0.393																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(538-540)Gaa>Taa		RERG/RAS-like							123.0	117.0	119.0					12																	18234205		2203	4300	6503	SO:0001587	stop_gained	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18234205C>A	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.538G>T	12.37:g.18234205C>A	ENSP00000229002:p.Glu180*					RERGL_ENST00000538724.1_Nonsense_Mutation_p.E179*	p.E180*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN			6	744	-			180			Small GTPase-like.			Nonsense_Mutation	SNP	ENST00000229002.2	37	c.538G>T	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646990	0.96714	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	.	.	.	4.96	4.96	0.65561	.	0.387986	0.27035	N	0.021251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	16.8055	0.85626	0.0:1.0:0.0:0.0	.	.	.	.	X	180;179	.	ENSP00000229002:E180X	E	-	1	0	RERGL	18125472	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.852000	0.55934	2.453000	0.82957	0.552000	0.68991	GAA		0.393	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		16	41	1	0	3.41278e-10	1	4.19267e-10	16	41				
LY9	4063	broad.mit.edu	37	1	160771667	160771667	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160771667G>A	ENST00000263285.6	+	2	484				LY9_ENST00000368037.5_Intron|LY9_ENST00000368039.2_Missense_Mutation_p.S181N|LY9_ENST00000368041.2_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Intron			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCATCATCAGCACCCTGGCT	0.642																																						ENST00000368039.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(541-543)aGc>aAc		lymphocyte antigen 9							103.0	105.0	104.0					1																	160771667		2203	4300	6503	SO:0001627	intron_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160771667G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.454+1795G>A	1.37:g.160771667G>A						LY9_ENST00000471816.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.5_Intron	p.S181N	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	543	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		0			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.542G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916980	0.33815	.	.	ENSG00000122224	ENST00000368039	T	0.48201	0.82	0.158	0.158	0.14942	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	B	0.30211	0.273	B	0.35899	0.213	T	0.16512	-1.0400	7	0.51188	T	0.08	.	.	.	.	.	181	Q6P2J4	.	N	181	ENSP00000357018:S181N	ENSP00000357018:S181N	S	+	2	0	LY9	159038291	0.998000	0.40836	0.206000	0.23566	0.204000	0.24138	1.916000	0.39986	0.202000	0.20498	0.205000	0.17691	AGC		0.642	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		53	97	0	0	0	1	0	53	97				
FAM213A	84293	broad.mit.edu	37	10	82182260	82182260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:82182260G>A	ENST00000372181.1	+	2	736	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	FAM213A_ENST00000372188.1_Missense_Mutation_p.R89Q|FAM213A_ENST00000372187.5_Missense_Mutation_p.R89Q|FAM213A_ENST00000372185.1_Missense_Mutation_p.R78Q	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	89	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										TTCCTCTGTCGAGAGGTGAGT	0.502																																						ENST00000372181.1																			0											c.(265-267)cGa>cAa		family with sequence similarity 213, member A							73.0	80.0	77.0					10																	82182260		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82182260G>A	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.266G>A	10.37:g.82182260G>A	ENSP00000361254:p.Arg89Gln					FAM213A_ENST00000372188.1_Missense_Mutation_p.R89Q|FAM213A_ENST00000372187.5_Missense_Mutation_p.R89Q|FAM213A_ENST00000372185.1_Missense_Mutation_p.R78Q	p.R89Q	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			2	736	+			89					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.266G>A	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293742	0.95546	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.56	4.66	0.58398	.	0.182289	0.46145	D	0.000309	T	0.72203	0.3431	M	0.89095	3.005	0.58432	D	0.999997	D	0.65815	0.995	P	0.48704	0.587	T	0.76572	-0.2910	9	0.45353	T	0.12	6.9987	12.1914	0.54273	0.0832:0.0:0.9168:0.0	.	89	Q9BRX8	PAMM_HUMAN	Q	89;89;78;89	.	ENSP00000361254:R89Q	R	+	2	0	C10orf58	82172240	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.197000	0.94985	1.353000	0.45828	0.655000	0.94253	CGA		0.502	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			5	38	0	0	0	1	0	5	38				
PCNXL2	80003	broad.mit.edu	37	1	233394358	233394358	+	Missense_Mutation	SNP	G	G	A	rs556158410		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394358G>A	ENST00000258229.9	-	5	1484	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	417						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAACCGGCCGCCCCTGGGTT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18192	0.0		0.0	False		,,,				2504	0.0					ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1249-1251)gCg>gTg		pecanex-like 2 (Drosophila)							78.0	83.0	81.0					1																	233394358		1915	4118	6033	SO:0001583	missense	80003					integral to membrane		g.chr1:233394358G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1250C>T	1.37:g.233394358G>A	ENSP00000258229:p.Ala417Val					PCNXL2_ENST00000430153.1_5'UTR	p.A417V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	1484	-		all_cancers(173;0.0347)|Prostate(94;0.137)	417					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1250C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	7.777	0.708681	0.15239	.	.	ENSG00000135749	ENST00000258229	T	0.62498	0.02	4.96	-7.73	0.01245	.	.	.	.	.	T	0.23926	0.0579	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	9	0.15499	T	0.54	.	4.026	0.09687	0.2452:0.4456:0.2156:0.0937	.	417	A6NKB5	PCX2_HUMAN	V	417	ENSP00000258229:A417V	ENSP00000258229:A417V	A	-	2	0	PCNXL2	231460981	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.233000	0.02934	-1.583000	0.01638	-1.271000	0.01417	GCG		0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		41	88	0	0	0	1	0	41	88				
DST	667	broad.mit.edu	37	6	56374499	56374499	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374499T>C	ENST00000361203.3	-	69	18000	c.17993A>G	c.(17992-17994)cAg>cGg	p.Q5998R	DST_ENST00000244364.6_Missense_Mutation_p.Q3695R|DST_ENST00000370769.4_Missense_Mutation_p.Q6109R|DST_ENST00000446842.2_Missense_Mutation_p.Q5783R|DST_ENST00000421834.2_Missense_Mutation_p.Q4021R|DST_ENST00000370788.2_Missense_Mutation_p.Q3912R|DST_ENST00000370754.5_Missense_Mutation_p.Q6287R|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5999					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCCCCTCTGTTTAAGAGT	0.388																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18859-18861)cAg>cGg		dystonin							115.0	106.0	109.0					6																	56374499		1859	4103	5962	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56374499T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17993A>G	6.37:g.56374499T>C	ENSP00000354508:p.Gln5998Arg					DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q6109R|DST_ENST00000421834.2_Missense_Mutation_p.Q4021R|DST_ENST00000370788.2_Missense_Mutation_p.Q3912R|DST_ENST00000244364.6_Missense_Mutation_p.Q3695R|DST_ENST00000361203.3_Missense_Mutation_p.Q5998R|DST_ENST00000446842.2_Missense_Mutation_p.Q5783R|DST_ENST00000340834.4_5'UTR	p.Q6287R			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		74	18859	-	Lung NSC(77;0.103)		6107					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.18860A>G		.	.	.	.	.	.	.	.	.	.	T	14.29	2.492613	0.44352	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.76	4.57	0.56435	.	0.455943	0.18361	N	0.143564	T	0.22781	0.0550	L	0.31664	0.95	0.29544	N	0.851845	B;P;B;B;B	0.38535	0.149;0.635;0.311;0.042;0.001	B;P;B;B;B	0.46389	0.186;0.515;0.088;0.037;0.004	T	0.05616	-1.0874	9	0.07175	T	0.84	.	12.0784	0.53657	0.1291:0.0:0.0:0.8709	.	4021;6109;6287;6107;3695	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	3695;6287;6109;4021;5783;3912;5998;111	ENSP00000244364:Q3695R;ENSP00000359790:Q6287R;ENSP00000359805:Q6109R;ENSP00000400883:Q4021R;ENSP00000393645:Q5783R;ENSP00000359824:Q3912R;ENSP00000354508:Q5998R	ENSP00000244364:Q3695R	Q	-	2	0	DST	56482458	1.000000	0.71417	0.936000	0.37596	0.990000	0.78478	5.194000	0.65125	0.970000	0.38263	0.533000	0.62120	CAG		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	30	0	0	0	1	0	15	30				
LAMA4	3910	broad.mit.edu	37	6	112575078	112575078	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112575078G>A	ENST00000230538.7	-	2	593				RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000585450.1_RNA|LAMA4_ENST00000431543.2_Intron|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000522006.1_Intron|RP11-506B6.6_ENST00000587816.1_RNA|LAMA4_ENST00000368638.4_Missense_Mutation_p.S92F|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000453937.2_Missense_Mutation_p.S92F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGAGGCGGAGAGAGAGAGAA	0.587																																						ENST00000368638.4																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(274-276)tCt>tTt		laminin, alpha 4							36.0	45.0	42.0					6																	112575078		2194	4300	6494	SO:0001627	intron_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112575078G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.195+79C>T	6.37:g.112575078G>A						RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000431543.2_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000453937.2_Missense_Mutation_p.S92F|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000522006.1_Intron	p.S92F			Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	2	545	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	0			Laminin EGF-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.275C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638917	0.47153	.	.	ENSG00000112769	ENST00000368638;ENST00000453937;ENST00000455073	.	.	.	3.93	0.515	0.17013	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	1	P	0.37548	0.599	B	0.42422	0.387	T	0.19549	-1.0302	7	0.87932	D	0	.	6.0147	0.19596	0.4524:0.0:0.5476:0.0	.	92	Q16363-3	.	F	92	.	ENSP00000357627:S92F	S	-	2	0	LAMA4	112681771	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.176000	0.16782	0.166000	0.19597	0.313000	0.20887	TCT		0.587	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		12	23	0	0	0	1	0	12	23				
FAM118A	55007	broad.mit.edu	37	22	45728465	45728465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45728465T>C	ENST00000216214.3	+	7	1645	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	FAM118A_ENST00000441876.2_Missense_Mutation_p.F271L|FAM118A_ENST00000405548.3_Missense_Mutation_p.F89L	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	271						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGAAGACCATTTCTTTAAGCA	0.463																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(811-813)Ttc>Ctc		family with sequence similarity 118, member A							126.0	122.0	123.0					22																	45728465		2203	4300	6503	SO:0001583	missense	55007					integral to membrane		g.chr22:45728465T>C	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.811T>C	22.37:g.45728465T>C	ENSP00000216214:p.Phe271Leu					FAM118A_ENST00000405548.3_Missense_Mutation_p.F89L|FAM118A_ENST00000441876.2_Missense_Mutation_p.F271L	p.F271L	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	7	1645	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	271					B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	c.811T>C	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.969202	0.92855	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405548	T;T;T	0.29917	1.55;1.55;1.55	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	L	0.44542	1.39	0.48395	D	0.999646	D	0.63046	0.992	D	0.76071	0.987	T	0.20605	-1.0270	10	0.11182	T	0.66	1.1181	15.7085	0.77606	0.0:0.0:0.0:1.0	.	271	Q9NWS6	F118A_HUMAN	L	271;271;89	ENSP00000216214:F271L;ENSP00000395892:F271L;ENSP00000384836:F89L	ENSP00000216214:F271L	F	+	1	0	FAM118A	44107129	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.652000	0.83633	2.186000	0.69663	0.533000	0.62120	TTC		0.463	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		38	57	0	0	0	1	0	38	57				
PLA1A	51365	broad.mit.edu	37	3	119334871	119334871	+	Missense_Mutation	SNP	G	G	A	rs200921577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119334871G>A	ENST00000273371.4	+	6	749	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	PLA1A_ENST00000488919.1_Missense_Mutation_p.R53Q|PLA1A_ENST00000494440.1_Missense_Mutation_p.R210Q|PLA1A_ENST00000495992.1_Missense_Mutation_p.R210Q	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	226					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGGTATTCGGATTCCCGTT	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17662	0.0		0.0	False		,,,				2504	0.0					ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(676-678)cGg>cAg		phospholipase A1 member A							142.0	110.0	121.0					3																	119334871		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119334871G>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.677G>A	3.37:g.119334871G>A	ENSP00000273371:p.Arg226Gln					PLA1A_ENST00000488919.1_Missense_Mutation_p.R53Q|PLA1A_ENST00000494440.1_Missense_Mutation_p.R210Q|PLA1A_ENST00000495992.1_Missense_Mutation_p.R210Q	p.R226Q	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			6	749	+			226					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.677G>A	CCDS2991.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.81	2.347005	0.41599	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	4.95	4.08	0.47627	Lipase, N-terminal (1);	0.431727	0.27447	N	0.019327	D	0.83468	0.5261	L	0.38692	1.165	0.35892	D	0.82971	B;B	0.20988	0.032;0.05	B;B	0.24974	0.024;0.057	T	0.76950	-0.2769	10	0.07482	T	0.82	-20.4672	10.6981	0.45911	0.0889:0.0:0.9111:0.0	.	210;226	Q53H76-3;Q53H76	.;PLA1A_HUMAN	Q	226;53;210;210;92	ENSP00000273371:R226Q;ENSP00000420625:R53Q;ENSP00000417326:R210Q;ENSP00000418793:R210Q;ENSP00000417295:R92Q	ENSP00000273371:R226Q	R	+	2	0	PLA1A	120817561	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.859000	0.62954	1.336000	0.45506	-0.263000	0.10527	CGG		0.537	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			4	22	0	0	0	1	0	4	22				
UMODL1	89766	broad.mit.edu	37	21	43524161	43524161	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524161G>T	ENST00000408910.2	+	9	1483	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	UMODL1_ENST00000400427.1_Missense_Mutation_p.V423L|C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000408989.2_Missense_Mutation_p.V495L|UMODL1_ENST00000400424.2_Missense_Mutation_p.V423L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	495	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCAAGCACAGTGTTCCAGAT	0.622																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1267-1269)Gtg>Ttg		uromodulin-like 1							75.0	77.0	76.0					21																	43524161		2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524161G>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1483G>T	21.37:g.43524161G>T	ENSP00000386147:p.Val495Leu					UMODL1_ENST00000408989.2_Missense_Mutation_p.V495L|UMODL1_ENST00000400424.1_Missense_Mutation_p.V423L|C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000408910.2_Missense_Mutation_p.V495L	p.V423L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			9	1663	+			495			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1267G>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709277	0.48517	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	3.67	2.79	0.32731	.	0.154695	0.29133	N	0.013046	T	0.70876	0.3274	M	0.72118	2.19	0.54753	D	0.999989	D;P;P	0.54207	0.965;0.569;0.67	P;P;B	0.47470	0.548;0.493;0.411	T	0.73157	-0.4071	10	0.66056	D	0.02	-11.4524	8.8938	0.35451	0.1093:0.0:0.8907:0.0	.	423;495;495	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	L	423;423;495;495	ENSP00000383279:V423L;ENSP00000383276:V423L;ENSP00000386126:V495L;ENSP00000386147:V495L	ENSP00000383276:V423L	V	+	1	0	UMODL1	42397230	0.528000	0.26314	0.421000	0.26609	0.728000	0.41692	0.674000	0.25218	1.118000	0.41863	0.655000	0.94253	GTG		0.622	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			7	71	1	0	0.00621372	1	0.00652201	7	71				
NR6A1	2649	broad.mit.edu	37	9	127298239	127298239	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127298239G>T	ENST00000487099.2	-	7	1154	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	NR6A1_ENST00000416460.2_Missense_Mutation_p.L328I|NR6A1_ENST00000344523.4_Missense_Mutation_p.L332I|NR6A1_ENST00000373584.3_Missense_Mutation_p.L329I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	333					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TAAACGGTGAGGGAAGACAGC	0.532																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(997-999)Ctc>Atc		nuclear receptor subfamily 6, group A, member 1							147.0	122.0	130.0					9																	127298239		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127298239G>T	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.997C>A	9.37:g.127298239G>T	ENSP00000420267:p.Leu333Ile					NR6A1_ENST00000373584.3_Missense_Mutation_p.L329I|NR6A1_ENST00000416460.2_Missense_Mutation_p.L328I|NR6A1_ENST00000344523.4_Missense_Mutation_p.L332I	p.L333I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			7	1154	-			333					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.997C>A	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577488	0.45902	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.03	5.03	0.67393	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.197044	0.45126	D	0.000391	D	0.92368	0.7578	N	0.11106	0.095	0.48696	D	0.999697	B;B;B	0.15141	0.012;0.008;0.01	B;B;B	0.23150	0.011;0.044;0.009	D	0.88241	0.2910	10	0.18710	T	0.47	.	18.2364	0.89950	0.0:0.0:1.0:0.0	.	329;333;328	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	I	333;329;328;332	ENSP00000420267:L333I;ENSP00000362686:L329I;ENSP00000413701:L328I;ENSP00000341135:L332I	ENSP00000341135:L332I	L	-	1	0	NR6A1	126338060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.706000	0.92434	0.563000	0.77884	CTC		0.532	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			10	82	1	0	2.74318e-10	1	3.37541e-10	10	82				
NFIX	4784	broad.mit.edu	37	19	13184238	13184238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184238C>T	ENST00000592199.1	+	4	625	c.625C>T	c.(625-627)Cac>Tac	p.H209Y	AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000358552.3_Missense_Mutation_p.H208Y|NFIX_ENST00000588228.1_Missense_Mutation_p.H162Y|NFIX_ENST00000397661.2_Missense_Mutation_p.H209Y|NFIX_ENST00000587760.1_Missense_Mutation_p.H201Y|NFIX_ENST00000585575.1_Missense_Mutation_p.H201Y|NFIX_ENST00000587260.1_Missense_Mutation_p.H208Y|NFIX_ENST00000360105.4_Missense_Mutation_p.H212Y			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	209					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTCTTCAGGGCACTTAAGTTT	0.532																																						ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(622-624)Cac>Tac		nuclear factor I/X (CCAAT-binding transcription factor)							127.0	120.0	122.0					19																	13184238		1925	4134	6059	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13184238C>T	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.625C>T	19.37:g.13184238C>T	ENSP00000467512:p.His209Tyr					NFIX_ENST00000397661.2_Missense_Mutation_p.H209Y|NFIX_ENST00000587260.1_Missense_Mutation_p.H208Y|NFIX_ENST00000360105.4_Missense_Mutation_p.H212Y|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000588228.1_Missense_Mutation_p.H162Y|NFIX_ENST00000592199.1_Missense_Mutation_p.H209Y|NFIX_ENST00000587760.1_Missense_Mutation_p.H201Y|NFIX_ENST00000585575.1_Missense_Mutation_p.H201Y	p.H208Y			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		3	622	+			209					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.622C>T		.	.	.	.	.	.	.	.	.	.	C	11.39	1.624109	0.28889	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.44482	0.92;0.94	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.51147	0.904;0.884;0.857;0.904;0.942	P;P;B;B;P	0.53035	0.524;0.461;0.359;0.401;0.716	T	0.37663	-0.9696	10	0.02654	T	1	.	14.6799	0.69009	0.0:1.0:0.0:0.0	.	217;208;212;209;209	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	Y	209;209;212;162;208	ENSP00000380781:H209Y;ENSP00000351354:H208Y	ENSP00000264825:H212Y	H	+	1	0	NFIX	13045238	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.116000	0.64661	2.280000	0.76307	0.462000	0.41574	CAC		0.532	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		14	30	0	0	0	1	0	14	30				
CCDC85A	114800	broad.mit.edu	37	2	56602991	56602991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56602991G>A	ENST00000407595.2	+	5	1995	c.1493G>A	c.(1492-1494)aGt>aAt	p.S498N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	498										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGAGTAACAGTTCACCCAAC	0.428																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1492-1494)aGt>aAt		coiled-coil domain containing 85A							112.0	108.0	110.0					2																	56602991		1968	4154	6122	SO:0001583	missense	114800							g.chr2:56602991G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1493G>A	2.37:g.56602991G>A	ENSP00000384040:p.Ser498Asn					RP11-482H16.1_ENST00000607540.1_RNA	p.S498N	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	1995	+			498						Missense_Mutation	SNP	ENST00000407595.2	37	c.1493G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623721	0.46840	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.15	5.15	0.70609	.	0.260172	0.26923	N	0.021810	T	0.22003	0.0530	N	0.08118	0	0.33221	D	0.554652	P	0.43826	0.818	B	0.35114	0.196	T	0.16988	-1.0384	9	0.18276	T	0.48	-18.1081	16.9763	0.86314	0.0:0.0:1.0:0.0	.	498	Q96PX6	CC85A_HUMAN	N	498;87	.	ENSP00000384040:S498N	S	+	2	0	CCDC85A	56456495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.819000	0.69243	2.673000	0.90976	0.467000	0.42956	AGT		0.428	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			17	31	0	0	0	1	0	17	31				
MAP2K3	5606	broad.mit.edu	37	17	21201737	21201737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21201737G>A	ENST00000342679.4	+	2	311	c.62G>A	c.(61-63)aGg>aAg	p.R21K	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	21					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAATCCAAGAGGAAGAAGGAT	0.572																																						ENST00000342679.4																			0											c.(61-63)aGg>aAg		mitogen-activated protein kinase kinase 3							231.0	226.0	228.0					17																	21201737		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21201737G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.62G>A	17.37:g.21201737G>A	ENSP00000345083:p.Arg21Lys					MAP2K3_ENST00000361818.5_5'UTR|MAP2K3_ENST00000316920.6_5'UTR	p.R21K	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	311	+			21					B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.62G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493405	0.44352	.	.	ENSG00000034152	ENST00000342679;ENST00000316920	T	0.71934	-0.61	5.43	0.625	0.17665	.	0.542652	0.18532	N	0.138459	T	0.42086	0.1187	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15809	-1.0424	10	0.08599	T	0.76	-35.1069	8.081	0.30744	0.4277:0.0:0.5723:0.0	.	21	P46734	MP2K3_HUMAN	K	21;25	ENSP00000345083:R21K	ENSP00000319139:R25K	R	+	2	0	MAP2K3	21142330	0.990000	0.36364	1.000000	0.80357	0.988000	0.76386	0.325000	0.19628	0.331000	0.23511	0.655000	0.94253	AGG		0.572	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		49	192	0	0	0	1	0	49	192				
MRPS18C	51023	broad.mit.edu	37	4	84379555	84379555	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84379555A>C	ENST00000295491.4	+	3	320	c.207A>C	c.(205-207)ggA>ggC	p.G69G	MRPS18C_ENST00000507349.1_Intron|MRPS18C_ENST00000507019.1_Intron|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000295488.3_5'Flank	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	69					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TCTTGTGTGGAAAGCATGTAG	0.328																																						ENST00000295491.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(205-207)ggA>ggC		mitochondrial ribosomal protein S18C							116.0	124.0	121.0					4																	84379555		2202	4300	6502	SO:0001819	synonymous_variant	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84379555A>C		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.207A>C	4.37:g.84379555A>C						MRPS18C_ENST00000507019.1_Intron|MRPS18C_ENST00000507349.1_Intron	p.G69G	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN			3	320	+		Hepatocellular(203;0.114)	69						Silent	SNP	ENST00000295491.4	37	c.207A>C	CCDS3604.1																																																																																				0.328	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			20	45	0	0	0	1	0	20	45				
DNAH1	25981	broad.mit.edu	37	3	52409983	52409983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52409983G>A	ENST00000420323.2	+	46	7433	c.7172G>A	c.(7171-7173)gGa>gAa	p.G2391E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2391	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACTCCTTGGAGAAAAAAGC	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7171-7173)gGa>gAa		dynein, axonemal, heavy chain 1							89.0	102.0	98.0					3																	52409983		1925	4135	6060	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52409983G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7172G>A	3.37:g.52409983G>A	ENSP00000401514:p.Gly2391Glu						p.G2391E	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	46	7433	+			2391			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.7172G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268517	0.40095	.	.	ENSG00000114841	ENST00000420323	T	0.22743	1.94	4.32	4.32	0.51571	.	0.000000	0.41938	D	0.000786	T	0.31358	0.0794	L	0.61218	1.895	0.44194	D	0.997011	P	0.50369	0.934	P	0.50440	0.641	T	0.03473	-1.1033	10	0.27082	T	0.32	.	14.7263	0.69346	0.0:0.0:1.0:0.0	.	2391	C9JXH6	.	E	2391	ENSP00000401514:G2391E	ENSP00000401514:G2391E	G	+	2	0	DNAH1	52385023	1.000000	0.71417	0.992000	0.48379	0.554000	0.35429	5.624000	0.67764	2.243000	0.73865	0.455000	0.32223	GGA		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		34	58	0	0	0	1	0	34	58				
ABCC11	85320	broad.mit.edu	37	16	48201211	48201211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48201211C>T	ENST00000394747.1	-	29	4472	c.4123G>A	c.(4123-4125)Gcc>Acc	p.A1375T	ABCC11_ENST00000353782.5_Missense_Mutation_p.A1337T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1375T|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1375T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1375	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTGGCTGTGGCCATGAGGGCT	0.572																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(4123-4125)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							103.0	103.0	103.0					16																	48201211		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48201211C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.4123G>A	16.37:g.48201211C>T	ENSP00000378230:p.Ala1375Thr					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1337T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1375T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1375T	p.A1375T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			29	4472	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1375			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.4123G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369026	0.42003	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.91996	-2.95;-2.92;-2.92;-2.92	4.19	2.21	0.28008	ABC transporter-like (1);	0.721795	0.12362	N	0.475509	T	0.81997	0.4941	L	0.27053	0.805	0.27591	N	0.949278	B;P	0.40794	0.091;0.729	B;B	0.30716	0.07;0.119	T	0.70048	-0.4979	10	0.18710	T	0.47	-1.155	8.8087	0.34954	0.0:0.805:0.0:0.195	.	1337;1375	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	1337;1375;1375;1375	ENSP00000311326:A1337T;ENSP00000349017:A1375T;ENSP00000378231:A1375T;ENSP00000378230:A1375T	ENSP00000311326:A1337T	A	-	1	0	ABCC11	46758712	0.348000	0.24861	0.010000	0.14722	0.028000	0.11728	0.180000	0.16860	0.497000	0.27926	0.655000	0.94253	GCC		0.572	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		39	64	0	0	0	1	0	39	64				
COG4	25839	broad.mit.edu	37	16	70534933	70534933	+	Missense_Mutation	SNP	G	G	A	rs140920304	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70534933G>A	ENST00000323786.5	-	9	1144	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	371					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTGAGGAAGCGTAAGTATAGC	0.483													G|||	3	0.000599042	0.0	0.0	5008	,	,		19295	0.003		0.0	False		,,,				2504	0.0					ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(1123-1125)Cgc>Tgc		component of oligomeric golgi complex 4		G	CYS/ARG,CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	114.0	97.0	103.0		1123,1123	4.9	1.0	16	dbSNP_134	103	0,8600		0,0,4300	yes	missense,missense	COG4	NM_001195139.1,NM_015386.2	180,180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	375/769,375/790	70534933	1,12995	2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70534933G>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1123C>T	16.37:g.70534933G>A	ENSP00000315775:p.Arg375Cys						p.R375C	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			9	1144	-		Ovarian(137;0.0694)	371					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1123C>T	CCDS10892.2	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	22.4	4.285608	0.80803	2.27E-4	0.0	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.56941	0.43	5.84	4.88	0.63580	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.976;0.999;0.995	T	0.79122	-0.1933	10	0.87932	D	0	-11.1211	14.8563	0.70341	0.0:0.0:0.7254:0.2746	.	281;370;371	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	C	375;371;33	ENSP00000315775:R375C	ENSP00000315775:R375C	R	-	1	0	COG4	69092434	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.065000	0.57513	1.440000	0.47531	0.655000	0.94253	CGC		0.483	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			4	63	0	0	0	1	0	4	63				
ZFHX3	463	broad.mit.edu	37	16	72992225	72992225	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992225T>C	ENST00000268489.5	-	2	2492	c.1820A>G	c.(1819-1821)gAa>gGa	p.E607G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	607					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGTGCTTTCATTTGGTTC	0.617																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(1819-1821)gAa>gGa		zinc finger homeobox 3							107.0	99.0	102.0					16																	72992225		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992225T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1820A>G	16.37:g.72992225T>C	ENSP00000268489:p.Glu607Gly					ZFHX3_ENST00000397992.5_Intron	p.E607G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2492	-		Ovarian(137;0.13)	607					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1820A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138568	0.37728	.	.	ENSG00000140836	ENST00000268489	T	0.74842	-0.88	5.28	5.28	0.74379	.	0.000000	0.49305	D	0.000149	T	0.71443	0.3340	L	0.43152	1.355	0.80722	D	1	P	0.42649	0.786	B	0.43082	0.407	T	0.75271	-0.3376	10	0.62326	D	0.03	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	607	Q15911	ZFHX3_HUMAN	G	607	ENSP00000268489:E607G	ENSP00000268489:E607G	E	-	2	0	ZFHX3	71549726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.119000	0.64992	0.528000	0.53228	GAA		0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	43	0	0	0	1	0	4	43				
TMBIM1	64114	broad.mit.edu	37	2	219144799	219144799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219144799C>T	ENST00000444881.1	-	4	978	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Missense_Mutation_p.G85R|TMBIM1_ENST00000258412.3_Missense_Mutation_p.G85R|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000445635.1_5'UTR			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	85					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCAGGCCCGAAGCTATCA	0.587																																						ENST00000444881.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9						c.(253-255)Ggg>Agg		transmembrane BAX inhibitor motif containing 1							154.0	139.0	144.0					2																	219144799		2203	4300	6503	SO:0001583	missense	64114					integral to membrane		g.chr2:219144799C>T	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.253G>A	2.37:g.219144799C>T	ENSP00000409738:p.Gly85Arg					PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.G85R|TMBIM1_ENST00000445635.1_5'UTR|TMBIM1_ENST00000396809.2_Missense_Mutation_p.G85R	p.G85R			Q969X1	TMBI1_HUMAN		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	978	-		Renal(207;0.0474)	85					B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	ENST00000444881.1	37	c.253G>A	CCDS2412.1	.	.	.	.	.	.	.	.	.	.	C	9.282	1.048382	0.19827	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000543441;ENST00000429501;ENST00000425694;ENST00000418569;ENST00000440422;ENST00000444183;ENST00000453776;ENST00000444000	T;T;T;T;T;T;T;T;T;T	0.42131	1.95;1.95;1.95;1.92;1.5;1.52;1.0;1.0;1.0;0.98	4.88	3.99	0.46301	.	0.749041	0.13591	N	0.376639	T	0.32971	0.0847	L	0.38175	1.15	0.27480	N	0.952602	B	0.12630	0.006	B	0.08055	0.003	T	0.15607	-1.0431	10	0.15952	T	0.53	-4.4373	13.8066	0.63236	0.0:0.7089:0.2911:0.0	.	85	Q969X1	TMBI1_HUMAN	R	85;85;85;23;85;85;85;85;85;85;85	ENSP00000258412:G85R;ENSP00000409738:G85R;ENSP00000380025:G85R;ENSP00000399987:G85R;ENSP00000399345:G85R;ENSP00000406744:G85R;ENSP00000412518:G85R;ENSP00000410136:G85R;ENSP00000410771:G85R;ENSP00000403462:G85R	ENSP00000258412:G85R	G	-	1	0	TMBIM1	218853043	0.000000	0.05858	0.208000	0.23602	0.952000	0.60782	0.390000	0.20768	1.385000	0.46445	0.655000	0.94253	GGG		0.587	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152		21	43	0	0	0	1	0	21	43				
ENC1	8507	broad.mit.edu	37	5	73931707	73931707	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931707G>T	ENST00000302351.4	-	2	1734	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	ENC1_ENST00000537006.1_Missense_Mutation_p.L202M|ENC1_ENST00000510316.1_Missense_Mutation_p.L129M	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	202					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCTGTCTCCAGCTCTTCACTG	0.483																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(604-606)Ctg>Atg		ectodermal-neural cortex 1 (with BTB domain)							93.0	90.0	91.0					5																	73931707		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931707G>T	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.604C>A	5.37:g.73931707G>T	ENSP00000306356:p.Leu202Met					ENC1_ENST00000537006.1_Missense_Mutation_p.L202M|ENC1_ENST00000510316.1_Missense_Mutation_p.L129M	p.L202M	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1734	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	202					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.604C>A	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101562	0.56183	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.78924	-1.22;-1.22;-1.22	6.04	4.25	0.50352	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	M	0.93978	3.48	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90440	0.4431	10	0.42905	T	0.14	.	11.628	0.51158	0.2007:0.0:0.7993:0.0	.	202	O14682	ENC1_HUMAN	M	202;129;202	ENSP00000306356:L202M;ENSP00000423804:L129M;ENSP00000446289:L202M	ENSP00000306356:L202M	L	-	1	2	ENC1	73967463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.896000	0.63222	1.568000	0.49683	0.561000	0.74099	CTG		0.483	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		8	109	1	0	0.00448238	1	0.00472561	8	109				
SLC25A28	81894	broad.mit.edu	37	10	101373480	101373480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101373480G>T	ENST00000370495.4	-	2	521	c.493C>A	c.(493-495)Cct>Act	p.P165T	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	165					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTGCCCCCAGGGTGGATTACA	0.522																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(493-495)Cct>Act		solute carrier family 25 (mitochondrial iron transporter), member 28							57.0	63.0	61.0					10																	101373480		1906	4132	6038	SO:0001583	missense	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101373480G>T	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.493C>A	10.37:g.101373480G>T	ENSP00000359526:p.Pro165Thr					SLC25A28_ENST00000496035.1_5'UTR	p.P165T	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	2	521	-		Colorectal(252;0.234)	165					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	c.493C>A	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421342	0.25639	.	.	ENSG00000155287	ENST00000370495	T	0.78003	-1.14	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.059443	0.64402	D	0.000002	T	0.55816	0.1944	N	0.05158	-0.105	0.58432	D	0.999998	B	0.15473	0.013	B	0.14023	0.01	T	0.54583	-0.8272	10	0.06891	T	0.86	-18.445	14.832	0.70156	0.0:0.1845:0.8155:0.0	.	165	Q96A46	MFRN2_HUMAN	T	165	ENSP00000359526:P165T	ENSP00000359526:P165T	P	-	1	0	SLC25A28	101363470	0.938000	0.31826	1.000000	0.80357	0.998000	0.95712	1.853000	0.39358	2.735000	0.93741	0.561000	0.74099	CCT		0.522	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		4	35	1	0	0.00909568	1	0.00947522	4	35				
ZNF677	342926	broad.mit.edu	37	19	53740687	53740687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53740687G>A	ENST00000598513.1	-	5	1443	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	ZNF677_ENST00000333952.4_Silent_p.H431H	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTGTGGTTTCT	0.398																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1291-1293)caC>caT		zinc finger protein 677							50.0	47.0	48.0					19																	53740687		2203	4300	6503	SO:0001819	synonymous_variant	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740687G>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1293C>T	19.37:g.53740687G>A						ZNF677_ENST00000598513.1_Silent_p.H431H	p.H431H			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1458	-			431						Silent	SNP	ENST00000598513.1	37	c.1293C>T	CCDS12861.1																																																																																				0.398	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		17	35	0	0	0	1	0	17	35				
MTCL1	23255	broad.mit.edu	37	18	8824752	8824752	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8824752T>G	ENST00000306329.11	+	13	4201	c.4201T>G	c.(4201-4203)Ttc>Gtc	p.F1401V	SOGA2_ENST00000400050.3_Missense_Mutation_p.F1041V|SOGA2_ENST00000517570.1_Missense_Mutation_p.F1041V|SOGA2_ENST00000518815.1_Missense_Mutation_p.F407V|SOGA2_ENST00000306285.7_Missense_Mutation_p.F407V|SOGA2_ENST00000359865.3_Missense_Mutation_p.F1082V																							CATCTCCCCCTTCCTGCCTGA	0.582																																						ENST00000359865.3																			0											c.(3244-3246)Ttc>Gtc		SOGA family member 2							72.0	54.0	60.0					18																	8824752		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8824752T>G																												ENST00000306329.11:c.4201T>G	18.37:g.8824752T>G	ENSP00000305027:p.Phe1401Val					SOGA2_ENST00000518815.1_Missense_Mutation_p.F407V|SOGA2_ENST00000400050.3_Missense_Mutation_p.F1041V|SOGA2_ENST00000306329.11_Missense_Mutation_p.F1401V|SOGA2_ENST00000517570.1_Missense_Mutation_p.F1041V|SOGA2_ENST00000306285.7_Missense_Mutation_p.F407V	p.F1082V	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3386	+			1392						Missense_Mutation	SNP	ENST00000306329.11	37	c.3244T>G		.	.	.	.	.	.	.	.	.	.	T	18.67	3.672938	0.67928	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.41	5.41	0.78517	.	0.000000	0.49916	D	0.000132	T	0.50171	0.1600	M	0.65498	2.005	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.52866	-0.8518	10	0.72032	D	0.01	-27.9323	15.4514	0.75277	0.0:0.0:0.0:1.0	.	1392;1082	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	V	1103;1041;1082;1041;407	ENSP00000429556:F1041V;ENSP00000352927:F1082V;ENSP00000382924:F1041V;ENSP00000303670:F407V	ENSP00000303670:F407V	F	+	1	0	CCDC165	8814752	1.000000	0.71417	0.950000	0.38849	0.646000	0.38490	8.040000	0.89188	2.036000	0.60181	0.528000	0.53228	TTC		0.582	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			3	31	0	0	0	1	0	3	31				
PHKA2	5256	broad.mit.edu	37	X	18912469	18912469	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18912469G>A	ENST00000379942.4	-	32	4055	c.3390C>T	c.(3388-3390)cgC>cgT	p.R1130R	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTGCGGCACGCGGTTCAGCA	0.602																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3388-3390)cgC>cgT		phosphorylase kinase, alpha 2 (liver)							90.0	70.0	77.0					X																	18912469		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18912469G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3390C>T	X.37:g.18912469G>A						PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	p.R1130R	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			32	4055	-	Hepatocellular(33;0.183)		1130					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3390C>T	CCDS14190.1																																																																																				0.602	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		25	45	0	0	0	1	0	25	45				
MICAL1	64780	broad.mit.edu	37	6	109769590	109769590	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109769590G>T	ENST00000358807.3	-	13	1982	c.1671C>A	c.(1669-1671)ccC>ccA	p.P557P	MICAL1_ENST00000368952.4_Silent_p.P576P|MICAL1_ENST00000358577.3_Silent_p.P471P	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	557	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCAGCTCTGAGGGTTCCCTGT	0.607																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1726-1728)ccC>ccA		microtubule associated monooxygenase, calponin and LIM domain containing 1							85.0	87.0	87.0					6																	109769590		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769590G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1671C>A	6.37:g.109769590G>T						MICAL1_ENST00000358807.3_Silent_p.P557P|MICAL1_ENST00000358577.3_Silent_p.P471P	p.P576P			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	13	2018	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	557			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.1728C>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687453	0.14973	.	.	ENSG00000135596	ENST00000433205	.	.	.	5.38	2.45	0.29901	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	T	0.15752	-1.0426	4	.	.	.	.	3.8535	0.08965	0.0799:0.144:0.4787:0.2974	.	.	.	.	I	119	.	.	L	-	1	0	MICAL1	109876283	0.000000	0.05858	0.999000	0.59377	0.899000	0.52679	-0.785000	0.04628	0.613000	0.30089	0.561000	0.74099	CTC		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		11	104	1	0	9.70103e-10	1	1.18443e-09	11	104				
PTPRH	5794	broad.mit.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55710122C>A	ENST00000376350.3	-	8	1601	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597																																						ENST00000376350.3																			1	Substitution - Missense(1)	p.G527S(1)	kidney(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1579-1581)Ggt>Tgt		protein tyrosine phosphatase, receptor type, H							182.0	150.0	161.0					19																	55710122		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55710122C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1579G>T	19.37:g.55710122C>A	ENSP00000365528:p.Gly527Cys					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	p.G527C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	8	1601	-		Renal(1328;0.245)	527			Fibronectin type-III 6.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1579G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886213	0.33348	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.59638	0.25;0.25	2.49	2.49	0.30216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52240	0.1722	N	0.08118	0	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.99	D;P;D	0.66351	0.943;0.906;0.91	T	0.39860	-0.9593	9	0.59425	D	0.04	.	8.6181	0.33845	0.0:1.0:0.0:0.0	.	349;349;527	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	C	527;349	ENSP00000365528:G527C;ENSP00000263434:G349C	ENSP00000263434:G349C	G	-	1	0	PTPRH	60401934	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.593000	0.23999	1.714000	0.51371	0.561000	0.74099	GGT		0.597	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			4	48	1	0	0.00024832	1	0.0002712	4	48				
DVL3	1857	broad.mit.edu	37	3	183882303	183882303	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183882303A>G	ENST00000313143.3	+	4	625	c.377A>G	c.(376-378)cAg>cGg	p.Q126R	DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Missense_Mutation_p.Q126R|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	126					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCAGCCAGGAGAACCTG	0.647																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(376-378)cAg>cGg		dishevelled segment polarity protein 3							44.0	46.0	46.0					3																	183882303		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183882303A>G	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.377A>G	3.37:g.183882303A>G	ENSP00000316054:p.Gln126Arg					EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.Q126R|DVL3_ENST00000462665.1_3'UTR	p.Q126R	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		4	625	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		126					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.377A>G	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	A	4.399	0.073781	0.08485	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.04917	3.96;3.97;3.53	4.39	4.39	0.52855	.	0.178874	0.50627	D	0.000101	T	0.01661	0.0053	N	0.01048	-1.04	0.54753	D	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39251	-0.9623	10	0.02654	T	1	-11.0557	6.8932	0.24241	0.8601:0.0:0.1399:0.0	.	126;126	B4E3E5;Q92997	.;DVL3_HUMAN	R	126;126;126;24	ENSP00000316054:Q126R;ENSP00000405885:Q126R;ENSP00000393849:Q24R	ENSP00000316054:Q126R	Q	+	2	0	DVL3	185364997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.472000	0.45136	1.986000	0.57962	0.519000	0.50382	CAG		0.647	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		4	42	0	0	0	1	0	4	42				
ZNF516	9658	broad.mit.edu	37	18	74091873	74091873	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74091873G>A	ENST00000443185.2	-	4	2514	c.2197C>T	c.(2197-2199)Cta>Tta	p.L733L	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	733					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTAAATCTAGCGGCATGAGG	0.612																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2197-2199)Cta>Tta		zinc finger protein 516							52.0	55.0	54.0					18																	74091873		2003	4173	6176	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091873G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2197C>T	18.37:g.74091873G>A						ZNF516_ENST00000524431.2_5'UTR	p.L733L	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2514	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	733						Silent	SNP	ENST00000443185.2	37	c.2197C>T																																																																																					0.612	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		5	31	0	0	0	1	0	5	31				
ERC2	26059	broad.mit.edu	37	3	56114999	56114999	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56114999C>A	ENST00000288221.6	-	7	1742	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	496						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGTCGTAATCTCAGCGCATC	0.438																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(1486-1488)aGa>aTa		ELKS/RAB6-interacting/CAST family member 2							74.0	65.0	68.0					3																	56114999		1903	4136	6039	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56114999C>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1487G>T	3.37:g.56114999C>A	ENSP00000288221:p.Arg496Ile						p.R496I	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	7	1742	-			496					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.1487G>T	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.560966|4.560966	0.86335|0.86335	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000492584|ENST00000288221	.|T	.|0.78707	.|-1.2	5.81|5.81	4.93|4.93	0.64822|0.64822	.|.	.|0.049747	.|0.85682	.|D	.|0.000000	T|T	0.81856|0.81856	0.4911|0.4911	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|B	.|0.23442	.|0.085	.|B	.|0.25759	.|0.063	T|T	0.81413|0.81413	-0.0944|-0.0944	5|10	.|0.87932	.|D	.|0	-12.3277|-12.3277	16.2202|16.2202	0.82254|0.82254	0.1341:0.8659:0.0:0.0|0.1341:0.8659:0.0:0.0	.|.	.|496	.|O15083	.|ERC2_HUMAN	Y|I	135|496	.|ENSP00000288221:R496I	.|ENSP00000288221:R496I	D|R	-|-	1|2	0|0	ERC2|ERC2	56090039|56090039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.818000|7.818000	0.86416|0.86416	1.439000|1.439000	0.47511|0.47511	0.585000|0.585000	0.79938|0.79938	GAT|AGA		0.438	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		9	16	1	0	5.16669e-11	1	6.41398e-11	9	16				
TUBD1	51174	broad.mit.edu	37	17	57941091	57941091	+	Missense_Mutation	SNP	T	T	G	rs76302921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57941091T>G	ENST00000592426.1	-	7	1193	c.1193A>C	c.(1192-1194)aAc>aCc	p.N398T	TUBD1_ENST00000325752.3_Missense_Mutation_p.N398T|TUBD1_ENST00000376094.4_Missense_Mutation_p.N296T|TUBD1_ENST00000346141.6_Missense_Mutation_p.N144T|TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.N343T|TUBD1_ENST00000539018.1_Missense_Mutation_p.N182T			Q9UJT1	TBD_HUMAN	tubulin, delta 1	398				N -> D (in Ref. 3; BAB14825). {ECO:0000305}.	cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GAACTGGCTGTTGCTGACCAA	0.398																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1192-1194)aAc>aCc		tubulin, delta 1							98.0	98.0	98.0					17																	57941091		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57941091T>G	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1193A>C	17.37:g.57941091T>G	ENSP00000468518:p.Asn398Thr					TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.N398T|TUBD1_ENST00000376094.4_Missense_Mutation_p.N296T|TUBD1_ENST00000346141.6_Missense_Mutation_p.N144T|TUBD1_ENST00000539018.1_Missense_Mutation_p.N182T|TUBD1_ENST00000340993.6_Missense_Mutation_p.N343T	p.N398T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		8	1470	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		398	N -> D (in Ref. 3; BAB14825).				B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.1193A>C	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	t	16.45	3.125908	0.56721	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000376094;ENST00000539018	D;D;D;T	0.91295	-2.1;-1.68;-2.82;-1.2	5.59	5.59	0.84812	Tubulin/FtsZ, C-terminal (1);	0.038895	0.85682	D	0.000000	D	0.95812	0.8637	M	0.87758	2.905	0.80722	D	1	D;D;B;D;D	0.89917	1.0;0.998;0.004;0.999;0.998	D;D;B;D;D	0.81914	0.995;0.984;0.006;0.993;0.984	D	0.96466	0.9345	10	0.87932	D	0	-11.1355	16.1164	0.81306	0.0:0.0:0.0:1.0	.	144;343;296;343;398	Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	T	398;343;144;296;182	ENSP00000320797:N398T;ENSP00000342399:N343T;ENSP00000342561:N144T;ENSP00000365262:N296T	ENSP00000320797:N398T	N	-	2	0	TUBD1	55295873	1.000000	0.71417	0.970000	0.41538	0.922000	0.55478	7.400000	0.79949	2.265000	0.75225	0.449000	0.29647	AAC		0.398	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		38	62	0	0	0	1	0	38	62				
ADAMTSL5	339366	broad.mit.edu	37	19	1507280	1507280	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1507280C>T	ENST00000413997.2	-	9	842	c.843G>A	c.(841-843)ttG>ttA	p.L281L	ADAMTSL5_ENST00000330475.4_Silent_p.L271L|ADAMTSL5_ENST00000395467.2_Silent_p.L40L|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000590562.1_5'UTR			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	281						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGCTTGCAATGTCTCCT	0.667																																						ENST00000330475.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10						c.(811-813)ttG>ttA		ADAMTS-like 5							95.0	87.0	90.0					19																	1507280		2203	4300	6503	SO:0001819	synonymous_variant	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1507280C>T	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.843G>A	19.37:g.1507280C>T						ADAMTSL5_ENST00000413997.2_Silent_p.L281L|ADAMTSL5_ENST00000395467.2_Silent_p.L40L|ADAMTSL5_ENST00000590562.1_5'UTR	p.L271L	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1256	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	271					B4DXK7|Q8IW95	Silent	SNP	ENST00000413997.2	37	c.813G>A																																																																																					0.667	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		29	45	0	0	0	1	0	29	45				
CENPJ	55835	broad.mit.edu	37	13	25457323	25457323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25457323C>T	ENST00000381884.4	-	17	4194	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1337					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CGTCACAGCTCCGTGTCCATT	0.378																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(4009-4011)Gag>Aag		centromere protein J							314.0	257.0	276.0					13																	25457323		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25457323C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.4009G>A	13.37:g.25457323C>T	ENSP00000371308:p.Glu1337Lys					CENPJ_ENST00000545981.1_3'UTR	p.E1337K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	17	4194	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1337					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.4009G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	1.053	-0.675367	0.03378	.	.	ENSG00000151849	ENST00000381884	T	0.75367	-0.93	5.89	3.78	0.43462	.	0.190219	0.53938	N	0.000048	T	0.24084	0.0583	N	0.00036	-2.535	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.41787	-0.9489	10	0.02654	T	1	.	6.0806	0.19938	0.0:0.1899:0.0:0.8101	.	1337	Q9HC77	CENPJ_HUMAN	K	1337	ENSP00000371308:E1337K	ENSP00000371308:E1337K	E	-	1	0	CENPJ	24355323	0.998000	0.40836	0.422000	0.26621	0.317000	0.28152	3.020000	0.49643	0.652000	0.30806	0.591000	0.81541	GAG		0.378	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		36	67	0	0	0	1	0	36	67				
RIC1	57589	broad.mit.edu	37	9	5747416	5747416	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5747416A>G	ENST00000414202.2	+	12	1554	c.1363A>G	c.(1363-1365)Agt>Ggt	p.S455G	KIAA1432_ENST00000449720.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000251879.6_Missense_Mutation_p.S455G|KIAA1432_ENST00000381532.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S376G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCATAAGCCCAGTCGAGAAAA	0.468																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1363-1365)Agt>Ggt		KIAA1432							135.0	127.0	129.0					9																	5747416		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5747416A>G																												ENST00000414202.2:c.1363A>G	9.37:g.5747416A>G	ENSP00000416696:p.Ser455Gly					KIAA1432_ENST00000449720.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000381532.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S376G|KIAA1432_ENST00000251879.6_Missense_Mutation_p.S455G	p.S455G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	12	1554	+		Acute lymphoblastic leukemia(23;0.154)	455						Missense_Mutation	SNP	ENST00000414202.2	37	c.1363A>G	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.686|9.686	1.150472|1.150472	0.21371|0.21371	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	6.05|6.05	-2.79|-2.79	0.05841|0.05841	.|.	.|1.469460	.|0.03606	.|N	.|0.234184	T|T	0.29850|0.29850	0.0746|0.0746	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22211	.|0.0;0.0;0.066	.|B;B;B	.|0.20767	.|0.0;0.0;0.031	T|T	0.07009|0.07009	-1.0795|-1.0795	5|9	.|0.17369	.|T	.|0.5	1.8883|1.8883	3.293|3.293	0.06956|0.06956	0.2557:0.4295:0.2097:0.1051|0.2557:0.4295:0.2097:0.1051	.|.	.|376;455;455	.|B7ZM67;Q4ADV7;G5E932	.|.;RIC1_HUMAN;.	R|G	383|455;455;376;376;376	.|.	.|ENSP00000251879:S455G	Q|S	+|+	2|1	0|0	KIAA1432|KIAA1432	5737416|5737416	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.893000|0.893000	0.52053|0.52053	-0.374000|-0.374000	0.07484|0.07484	-0.737000|-0.737000	0.04824|0.04824	-0.297000|-0.297000	0.09499|0.09499	CAG|AGT		0.468	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			18	54	0	0	0	1	0	18	54				
PLK1	5347	broad.mit.edu	37	16	23690654	23690654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23690654G>A	ENST00000300093.4	+	1	512	c.401G>A	c.(400-402)cGc>cAc	p.R134H	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCTCTGCCGCCGGAGGGTG	0.607																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(400-402)cGc>cAc		polo-like kinase 1							43.0	43.0	43.0					16																	23690654		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23690654G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.401G>A	16.37:g.23690654G>A	ENSP00000300093:p.Arg134His					PLK1_ENST00000564202.1_3'UTR	p.R134H	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	1	512	+			134			Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.401G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047644	0.75846	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.24723	1.84	4.42	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169504	0.52532	D	0.000080	T	0.25306	0.0615	N	0.20574	0.59	0.58432	D	0.999998	D	0.55385	0.971	P	0.54270	0.747	T	0.02251	-1.1188	10	0.49607	T	0.09	-5.7057	9.9111	0.41406	0.1006:0.0:0.8994:0.0	.	134	P53350	PLK1_HUMAN	H	134;37;134	ENSP00000300093:R134H	ENSP00000300093:R134H	R	+	2	0	PLK1	23598155	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.685000	0.68204	1.086000	0.41228	0.462000	0.41574	CGC		0.607	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		10	23	0	0	0	1	0	10	23				
FAM154A	158297	broad.mit.edu	37	9	18928081	18928081	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18928081G>T	ENST00000380534.4	-	4	1673	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	FAM154A_ENST00000542071.1_Missense_Mutation_p.P273H|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	465										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCTCTGGTTGGGGTTTTCTGA	0.403																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(1393-1395)cCc>cAc		family with sequence similarity 154, member A							79.0	86.0	84.0					9																	18928081		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928081G>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.1394C>A	9.37:g.18928081G>T	ENSP00000369907:p.Pro465His					FAM154A_ENST00000542071.1_Missense_Mutation_p.P273H|FAM154A_ENST00000380530.1_3'UTR	p.P465H	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1673	-			465					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.1394C>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405028	0.25378	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.24151	2.68;1.87	5.42	4.5	0.54988	.	0.348186	0.25275	N	0.031850	T	0.34890	0.0913	L	0.57536	1.79	0.09310	N	1	D	0.53151	0.958	P	0.50791	0.65	T	0.19712	-1.0297	10	0.87932	D	0	-6.4754	11.173	0.48582	0.0:0.0:0.8167:0.1833	.	465	Q8IYX7	F154A_HUMAN	H	465;273	ENSP00000369907:P465H;ENSP00000438823:P273H	ENSP00000369907:P465H	P	-	2	0	FAM154A	18918081	0.081000	0.21417	0.185000	0.23176	0.014000	0.08584	2.683000	0.46943	1.468000	0.48064	0.650000	0.86243	CCC		0.403	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		54	74	1	0	7.10676e-39	1	9.58126e-39	54	74				
HTR3A	3359	broad.mit.edu	37	11	113857370	113857370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113857370C>A	ENST00000504030.2	+	7	1281	c.836C>A	c.(835-837)aCa>aAa	p.T279K	HTR3A_ENST00000299961.5_Missense_Mutation_p.T264K|HTR3A_ENST00000506841.2_Missense_Mutation_p.T279K|HTR3A_ENST00000355556.2_Missense_Mutation_p.T285K|HTR3A_ENST00000375498.2_Missense_Mutation_p.T285K|HTR3A_ENST00000535865.1_Missense_Mutation_p.T23K			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	279					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TTCAAGATTACACTCCTCCTG	0.587																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(835-837)aCa>aAa		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						99.0	79.0	85.0					11																	113857370		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857370C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.836C>A	11.37:g.113857370C>A	ENSP00000424189:p.Thr279Lys					HTR3A_ENST00000355556.2_Missense_Mutation_p.T285K|HTR3A_ENST00000506841.2_Missense_Mutation_p.T279K|HTR3A_ENST00000535865.1_Missense_Mutation_p.T23K|HTR3A_ENST00000375498.2_Missense_Mutation_p.T285K|HTR3A_ENST00000299961.5_Missense_Mutation_p.T264K	p.T279K			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1281	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	279					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.836C>A		.	.	.	.	.	.	.	.	.	.	C	33	5.209577	0.95069	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.90385	-2.66;-1.3;-2.66;-1.3;-2.66;-2.66	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.969;1.0	D	0.97757	1.0218	10	0.87932	D	0	-16.5175	18.4412	0.90667	0.0:1.0:0.0:0.0	.	264;285;285	B4DSY6;G5E986;Q7KZM7	.;.;.	K	279;285;285;279;23;264	ENSP00000424189:T279K;ENSP00000347754:T285K;ENSP00000364648:T285K;ENSP00000424776:T279K;ENSP00000437776:T23K;ENSP00000299961:T264K	ENSP00000299961:T264K	T	+	2	0	HTR3A	113362580	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	6.042000	0.70996	2.421000	0.82119	0.561000	0.74099	ACA		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		4	49	1	0	2.56e-06	1	2.9446e-06	4	49				
IGHV1-24	28467	broad.mit.edu	37	14	106733396	106733396	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106733396A>G	ENST00000390610.2	-	0	158									immunoglobulin heavy variable 1-24																		CTGAGGCCCCAGGCTTCTTCA	0.577																																						ENST00000390610.2																			0																				136.0	129.0	131.0					14																	106733396		1929	4127	6056			0							g.chr14:106733396A>G	M99642		14q32.33	2012-02-08			ENSG00000211950	ENSG00000211950		"""Immunoglobulins / IGH locus"""	5551	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152095		14.37:g.106733396A>G														0	158	-									RNA	SNP	ENST00000390610.2	37																																																																																						0.577	IGHV1-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325192.1	NG_001019		13	126	0	0	0	1	0	13	126				
FLNB	2317	broad.mit.edu	37	3	58139357	58139357	+	Missense_Mutation	SNP	C	C	T	rs368617386		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58139357C>T	ENST00000295956.4	+	39	6788	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V	FLNB_ENST00000490882.1_Missense_Mutation_p.A2239V|FLNB_ENST00000429972.2_Missense_Mutation_p.A2197V|FLNB_ENST00000358537.3_Missense_Mutation_p.A2184V|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.A2167V|FLNB_ENST00000493452.1_Missense_Mutation_p.A2015V|FLNB_ENST00000419752.2_Missense_Mutation_p.A2028V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2208	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A2239V(1)|p.A2208V(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGGAGAAGCGGGAGTCCCA	0.607																																						ENST00000295956.4																			2	Substitution - Missense(2)	p.A2239V(1)|p.A2208V(1)	endometrium(2)	NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(6622-6624)gCg>gTg		filamin B, beta		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	31.0	38.0	36.0		6716,6590,6551,6623	5.9	1.0	3		36	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	64,64,64,64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	2239/2634,2197/2592,2184/2579,2208/2603	58139357	1,13003	2202	4300	6502	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58139357C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6623C>T	3.37:g.58139357C>T	ENSP00000295956:p.Ala2208Val					FLNB_ENST00000429972.2_Missense_Mutation_p.A2197V|FLNB_ENST00000358537.3_Missense_Mutation_p.A2184V|FLNB_ENST00000490882.1_Missense_Mutation_p.A2239V|FLNB_ENST00000419752.2_Missense_Mutation_p.A2028V|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.A2167V|FLNB_ENST00000493452.1_Missense_Mutation_p.A2015V	p.A2208V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	39	6788	+			2208			Interaction with FLNA 1.|Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6623C>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296363	0.60086	0.0	1.16E-4	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.9	5.9	0.94986	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.382752	0.30999	N	0.008444	T	0.73583	0.3605	N	0.04373	-0.215	0.53688	D	0.999979	P;P;P;B;P;P	0.43169	0.506;0.8;0.562;0.262;0.562;0.562	B;B;B;B;B;B	0.42319	0.12;0.383;0.19;0.118;0.19;0.19	T	0.72928	-0.4143	10	0.14252	T	0.57	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	2184;2239;2015;2028;2197;2208	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	2208;2239;2184;2197;2167;2015;2028	ENSP00000295956:A2208V;ENSP00000420213:A2239V;ENSP00000351339:A2184V;ENSP00000415599:A2197V;ENSP00000232447:A2167V;ENSP00000418510:A2015V;ENSP00000414532:A2028V	ENSP00000295956:A2208V	A	+	2	0	FLNB	58114397	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	4.945000	0.63568	2.788000	0.95919	0.650000	0.86243	GCG		0.607	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		8	15	0	0	0	1	0	8	15				
MLST8	64223	broad.mit.edu	37	16	2258454	2258454	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258454C>T	ENST00000569417.1	+	8	1056	c.702C>T	c.(700-702)ctC>ctT	p.L234L	MLST8_ENST00000382450.4_Silent_p.L233L|MLST8_ENST00000565250.1_Silent_p.L234L|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Silent_p.L234L|MLST8_ENST00000301724.10_Silent_p.L234L|MLST8_ENST00000564088.1_Silent_p.L234L|MLST8_ENST00000301725.7_Missense_Mutation_p.P212S	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	234					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CCACTAGGCTCCTCGCCACCT	0.672																																						ENST00000301725.7																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(634-636)Cct>Tct		MTOR associated protein, LST8 homolog (S. cerevisiae)							36.0	46.0	43.0					16																	2258454		2140	4248	6388	SO:0001819	synonymous_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258454C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.702C>T	16.37:g.2258454C>T						MLST8_ENST00000565250.1_Silent_p.L234L|MLST8_ENST00000397124.1_Silent_p.L234L|MLST8_ENST00000564088.1_Silent_p.L234L|MLST8_ENST00000382450.4_Silent_p.L233L|MLST8_ENST00000569417.1_Silent_p.L234L|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Silent_p.L234L	p.P212S			Q9BVC4	LST8_HUMAN			7	634	+			0					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.634C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.354940	0.01256	.	.	ENSG00000167965	ENST00000301725	T	0.66815	-0.23	4.61	0.153	0.14897	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.24554	N	0.994005	.	.	.	.	.	.	T	0.42032	-0.9475	6	0.36615	T	0.2	-32.7577	2.2023	0.03927	0.1446:0.4075:0.2816:0.1663	.	.	.	.	S	212	ENSP00000301725:P212S	ENSP00000301725:P212S	P	+	1	0	MLST8	2198455	0.988000	0.35896	0.421000	0.26609	0.254000	0.26022	0.235000	0.17948	-0.214000	0.10078	0.313000	0.20887	CCT		0.672	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		21	37	0	0	0	1	0	21	37				
ZDHHC4	55146	broad.mit.edu	37	7	6621738	6621738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6621738C>T	ENST00000396706.2	+	5	669	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	ZDHHC4_ENST00000396713.2_Nonsense_Mutation_p.Q76*|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000335965.6_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000405731.3_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396709.1_Nonsense_Mutation_p.Q76*			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	76						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CCTGGTCTTGCAAGGGATGGT	0.453																																						ENST00000396706.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(226-228)Caa>Taa		zinc finger, DHHC-type containing 4							228.0	210.0	216.0					7																	6621738		2203	4300	6503	SO:0001587	stop_gained	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6621738C>T	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.226C>T	7.37:g.6621738C>T	ENSP00000379934:p.Gln76*					ZDHHC4_ENST00000335965.6_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396713.2_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396707.2_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396709.1_Nonsense_Mutation_p.Q76*|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Nonsense_Mutation_p.Q76*	p.Q76*			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	5	669	+		Ovarian(82;0.232)	76					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Nonsense_Mutation	SNP	ENST00000396706.2	37	c.226C>T	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	c	36	5.906218	0.97087	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000483589;ENST00000396706	.	.	.	5.06	4.17	0.49024	.	0.261548	0.38837	N	0.001542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-18.7475	12.5848	0.56410	0.0:0.6794:0.3206:0.0	.	.	.	.	X	76	.	ENSP00000337475:Q76X	Q	+	1	0	ZDHHC4	6588263	1.000000	0.71417	0.987000	0.45799	0.615000	0.37417	2.065000	0.41442	1.425000	0.47237	-0.176000	0.13171	CAA		0.453	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		53	149	0	0	0	1	0	53	149				
GRK5	2869	broad.mit.edu	37	10	121214568	121214568	+	Missense_Mutation	SNP	G	G	A	rs375507983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214568G>A	ENST00000392870.2	+	16	2091	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	GRK5_ENST00000369108.3_Missense_Mutation_p.G483R	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	588					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAACTCCACCGGAAGCAGCTA	0.547																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(1762-1764)Gga>Aga		G protein-coupled receptor kinase 5		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	98.0	90.0	92.0		1762	5.5	0.9	10		92	0,8600		0,0,4300	no	missense	GRK5	NM_005308.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	588/591	121214568	1,13005	2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121214568G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1762G>A	10.37:g.121214568G>A	ENSP00000376609:p.Gly588Arg					GRK5_ENST00000369108.3_Missense_Mutation_p.G483R	p.G588R	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	16	2091	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	588					D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1762G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021898	0.54576	2.27E-4	0.0	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.71341	-0.52;-0.56	5.47	5.47	0.80525	.	0.000000	0.49916	D	0.000125	T	0.80193	0.4578	L	0.40543	1.245	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81123	-0.1076	10	0.62326	D	0.03	-14.957	19.3324	0.94297	0.0:0.0:1.0:0.0	.	588;588	B2R7K0;P34947	.;GRK5_HUMAN	R	588;483	ENSP00000376609:G588R;ENSP00000358104:G483R	ENSP00000358104:G483R	G	+	1	0	GRK5	121204558	1.000000	0.71417	0.948000	0.38648	0.701000	0.40568	7.124000	0.77185	2.571000	0.86741	0.655000	0.94253	GGA		0.547	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		16	34	0	0	0	1	0	16	34				
GPR133	283383	broad.mit.edu	37	12	131593422	131593422	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131593422G>T	ENST00000261654.5	+	18	2600	c.2041G>T	c.(2041-2043)Ggt>Tgt	p.G681C	GPR133_ENST00000376682.4_Splice_Site_p.G367C|GPR133_ENST00000535015.1_Splice_Site_p.G713C|GPR133_ENST00000543617.1_Splice_Site_p.G200C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	681					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		gatgggatggggtaggtgggg	0.622																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e18+1		G protein-coupled receptor 133							78.0	72.0	74.0					12																	131593422		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593422G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2041+1G>T	12.37:g.131593422G>T						GPR133_ENST00000543617.1_Splice_Site_p.G200_splice|GPR133_ENST00000535015.1_Splice_Site_p.G713_splice|GPR133_ENST00000376682.4_Splice_Site_p.G367_splice	p.G681_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2600	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		681					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37	c.2041_splice	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114461	0.77210	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.61	4.61	0.57282	GPCR, family 2-like (1);	0.052541	0.85682	D	0.000000	T	0.80465	0.4628	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.983;0.99	T	0.83009	-0.0173	10	0.51188	T	0.08	.	16.423	0.83773	0.0:0.0:1.0:0.0	.	713;200;681	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	C	681;713;367;200	ENSP00000261654:G681C;ENSP00000444425:G713C;ENSP00000365872:G367C;ENSP00000438021:G200C	ENSP00000261654:G681C	G	+	1	0	GPR133	130159375	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.690000	0.91272	2.104000	0.64026	0.563000	0.77884	GGT		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Missense_Mutation	25	30	1	0	2.98393e-07	1	3.50693e-07	25	30				
TREX1	11277	broad.mit.edu	37	3	48508920	48508920	+	Missense_Mutation	SNP	C	C	T	rs79318303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48508920C>T	ENST00000422277.2	+	1	1692	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	TREX1_ENST00000444177.1_Missense_Mutation_p.A279V|TREX1_ENST00000296443.9_Missense_Mutation_p.A289V|TREX1_ENST00000456089.1_Missense_Mutation_p.A150V|TREX1_ENST00000436480.2_Missense_Mutation_p.A289V|TREX1_ENST00000433541.1_Missense_Mutation_p.A150V|SHISA5_ENST00000465449.1_5'Flank	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	344	Interaction with UBQLN1.|Necessary for cytoplasmic retention. {ECO:0000250}.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGCTGCTGGCCCCACTGGGT	0.592																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(865-867)gCc>gTc		three prime repair exonuclease 1							49.0	54.0	52.0					3																	48508920		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508920C>T	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.1031C>T	3.37:g.48508920C>T	ENSP00000390478:p.Ala344Val					TREX1_ENST00000433541.1_Missense_Mutation_p.A150V|TREX1_ENST00000436480.2_Missense_Mutation_p.A289V|TREX1_ENST00000444177.1_Missense_Mutation_p.A279V|TREX1_ENST00000422277.2_Missense_Mutation_p.A344V|TREX1_ENST00000456089.1_Missense_Mutation_p.A150V	p.A289V			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1753	+			344					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.866C>T	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464211	0.63513	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.59224	1.07;0.28;1.07;1.01;1.08;0.28	4.83	3.95	0.45737	.	.	.	.	.	T	0.53302	0.1788	M	0.63428	1.95	0.28641	N	0.907156	B	0.30709	0.291	B	0.28916	0.096	T	0.54761	-0.8245	9	0.87932	D	0	.	8.9237	0.35628	0.0:0.8963:0.0:0.1037	.	344	Q9NSU2	TREX1_HUMAN	V	289;150;289;344;279;150	ENSP00000296443:A289V;ENSP00000412404:A150V;ENSP00000392569:A289V;ENSP00000390478:A344V;ENSP00000415972:A279V;ENSP00000411331:A150V	ENSP00000296443:A289V	A	+	2	0	TREX1	48483924	0.984000	0.35163	0.910000	0.35882	0.424000	0.31475	2.342000	0.43992	0.999000	0.39023	0.563000	0.77884	GCC		0.592	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		30	33	0	0	0	1	0	30	33				
HTT	3064	broad.mit.edu	37	4	3188447	3188447	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3188447G>A	ENST00000355072.5	+	38	5134		c.e38+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAACACAATGGTGAGTCTCTC	0.498																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.e38+1		huntingtin							140.0	128.0	132.0					4																	3188447		1945	4139	6084	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3188447G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4989+1G>A	4.37:g.3188447G>A								NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	38	5134	+		all_epithelial(65;0.18)						Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37		CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377298	0.61735	.	.	ENSG00000197386	ENST00000355072	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7127	0.96102	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3158245	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	9.624000	0.98398	2.658000	0.90341	0.650000	0.86243	.		0.498	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Intron	36	56	0	0	0	1	0	36	56				
NAALADL2	254827	broad.mit.edu	37	3	175165105	175165105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:175165105G>A	ENST00000454872.1	+	6	1307	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	393						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATCTCTTCGCCAAAAGCTA	0.378																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1177-1179)tcG>tcA		N-acetylated alpha-linked acidic dipeptidase-like 2							64.0	59.0	60.0					3																	175165105		1869	4117	5986	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175165105G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1179G>A	3.37:g.175165105G>A						NAALADL2_ENST00000473253.1_3'UTR	p.S393S	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	6	1307	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	393					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1179G>A	CCDS46960.1																																																																																				0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		9	7	0	0	0	1	0	9	7				
MFHAS1	9258	broad.mit.edu	37	8	8747988	8747988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8747988C>T	ENST00000276282.6	-	1	3167	c.2581G>A	c.(2581-2583)Gca>Aca	p.A861T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	861										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGGCTTCTGCATGGGGCACC	0.488																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2581-2583)Gca>Aca		malignant fibrous histiocytoma amplified sequence 1							81.0	76.0	78.0					8																	8747988		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8747988C>T	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2581G>A	8.37:g.8747988C>T	ENSP00000276282:p.Ala861Thr						p.A861T	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	3167	-		Hepatocellular(245;0.217)	861					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2581G>A	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566216	0.45694	.	.	ENSG00000147324	ENST00000276282	T	0.35236	1.32	5.04	5.04	0.67666	.	0.215838	0.38548	N	0.001646	T	0.30103	0.0754	L	0.36672	1.1	0.38589	D	0.950384	P	0.44734	0.842	B	0.40165	0.321	T	0.08249	-1.0731	10	0.16420	T	0.52	.	17.5666	0.87921	0.0:1.0:0.0:0.0	.	861	Q9Y4C4	MFHA1_HUMAN	T	861	ENSP00000276282:A861T	ENSP00000276282:A861T	A	-	1	0	MFHAS1	8785398	0.995000	0.38212	0.975000	0.42487	0.987000	0.75469	3.521000	0.53472	2.640000	0.89533	0.655000	0.94253	GCA		0.488	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		8	72	0	0	0	1	0	8	72				
YRDC	79693	broad.mit.edu	37	1	38272585	38272585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38272585G>A	ENST00000373044.2	-	3	572	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S	C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000373043.1_5'Flank|C1orf122_ENST00000446260.2_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	190	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAGCAAGCGGACCCTCAAAC	0.512																																						ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(568-570)Ccg>Tcg		yrdC N(6)-threonylcarbamoyltransferase domain containing							94.0	87.0	89.0					1																	38272585		2203	4300	6503	SO:0001583	missense	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272585G>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.568C>T	1.37:g.38272585G>A	ENSP00000362135:p.Pro190Ser						p.P190S	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			3	572	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	190			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP	ENST00000373044.2	37	c.568C>T	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151350	0.94645	.	.	ENSG00000196449	ENST00000373044	.	.	.	5.58	5.58	0.84498	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.92343	0.5883	9	0.56958	D	0.05	0.4779	19.5733	0.95430	0.0:0.0:1.0:0.0	.	190	Q86U90	YRDC_HUMAN	S	190	.	ENSP00000362135:P190S	P	-	1	0	YRDC	38045172	1.000000	0.71417	0.392000	0.26245	0.958000	0.62258	8.996000	0.93539	2.618000	0.88619	0.563000	0.77884	CCG		0.512	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		8	62	0	0	0	1	0	8	62				
GON4L	54856	broad.mit.edu	37	1	155735951	155735951	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155735951G>T	ENST00000368331.1	-	21	3361	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.L1105I|GON4L_ENST00000271883.5_Missense_Mutation_p.L1105I|GON4L_ENST00000437809.1_Missense_Mutation_p.L1105I	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1105					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAGGGGCAAGGGAGGGCAGC	0.557																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3313-3315)Ctt>Att		gon-4-like (C. elegans)							92.0	86.0	88.0					1																	155735951		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735951G>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3313C>A	1.37:g.155735951G>T	ENSP00000357315:p.Leu1105Ile					GON4L_ENST00000361040.5_Missense_Mutation_p.L1105I|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.L1105I|GON4L_ENST00000368331.1_Missense_Mutation_p.L1105I	p.L1105I			Q3T8J9	GON4L_HUMAN			21	3435	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1105					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.3313C>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.050186	0.75846	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.28	5.28	0.74379	.	0.000000	0.52532	D	0.000077	T	0.41143	0.1146	L	0.54323	1.7	0.27914	N	0.938521	D;D;D;D	0.62365	0.969;0.957;0.985;0.991	P;P;P;P	0.61658	0.719;0.676;0.783;0.892	T	0.27262	-1.0079	10	0.20046	T	0.44	.	8.3661	0.32387	0.0793:0.0:0.764:0.1567	.	1105;301;1105;1105	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	I	1105	ENSP00000396117:L1105I;ENSP00000357315:L1105I;ENSP00000271883:L1105I;ENSP00000354322:L1105I	ENSP00000271883:L1105I	L	-	1	0	GON4L	154002575	0.004000	0.15560	0.993000	0.49108	0.983000	0.72400	0.622000	0.24433	2.755000	0.94549	0.655000	0.94253	CTT		0.557	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		7	95	1	0	0.00198382	1	0.00210581	7	95				
THSD7B	80731	broad.mit.edu	37	2	137814073	137814073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814073A>G	ENST00000409968.1	+	3	401	c.223A>G	c.(223-225)Aca>Gca	p.T75A	THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000413152.2_Missense_Mutation_p.T44A|THSD7B_ENST00000272643.3_Missense_Mutation_p.T75A			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	75	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGACGGGTGGACAAGTCACCT	0.532																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(223-225)Aca>Gca		thrombospondin, type I, domain containing 7B							83.0	89.0	87.0					2																	137814073		2025	4198	6223	SO:0001583	missense	80731							g.chr2:137814073A>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.223A>G	2.37:g.137814073A>G	ENSP00000387145:p.Thr75Ala					THSD7B_ENST00000272643.3_Missense_Mutation_p.T75A|THSD7B_ENST00000413152.2_Missense_Mutation_p.T44A	p.T75A						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	401	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.223A>G		.	.	.	.	.	.	.	.	.	.	A	22.3	4.275341	0.80580	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60299	0.2;0.2;0.2	5.89	5.89	0.94794	.	0.091458	0.85682	D	0.000000	T	0.62841	0.2461	L	0.28014	0.82	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	T	0.59747	-0.7396	10	0.26408	T	0.33	.	15.9685	0.79995	1.0:0.0:0.0:0.0	.	44	C9JKN6	.	A	75;75;44	ENSP00000387145:T75A;ENSP00000272643:T75A;ENSP00000413841:T44A	ENSP00000272643:T75A	T	+	1	0	THSD7B	137530543	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.412000	0.80091	2.250000	0.74265	0.477000	0.44152	ACA		0.532	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		18	26	0	0	0	1	0	18	26				
HEATR4	399671	broad.mit.edu	37	14	73945427	73945427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73945427C>T	ENST00000553558.1	-	18	3286	c.2965G>A	c.(2965-2967)Gct>Act	p.A989T	HEATR4_ENST00000334988.2_Missense_Mutation_p.A989T|HEATR4_ENST00000560393.1_Missense_Mutation_p.A942T|HEATR4_ENST00000566478.1_5'UTR|RP1-240K6.3_ENST00000515412.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	989										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCCCACAGCAATCCTTTTC	0.453																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2965-2967)Gct>Act		HEAT repeat containing 4							128.0	118.0	121.0					14																	73945427		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73945427C>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2965G>A	14.37:g.73945427C>T	ENSP00000450444:p.Ala989Thr					HEATR4_ENST00000334988.2_Missense_Mutation_p.A989T|HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.A942T	p.A989T	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	18	3286	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.2965G>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667067	0.29604	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.28255	1.62	4.37	2.54	0.30619	.	0.662164	0.13789	N	0.362656	T	0.17408	0.0418	L	0.27053	0.805	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	T	0.12451	-1.0547	10	0.31617	T	0.26	0.1261	6.956	0.24572	0.0:0.7941:0.0:0.2059	.	989	Q86WZ0	HEAT4_HUMAN	T	989;942	ENSP00000450444:A989T	ENSP00000335447:A942T	A	-	1	0	HEATR4	73015180	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.483000	0.22292	0.784000	0.33661	0.449000	0.29647	GCT		0.453	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		42	56	0	0	0	1	0	42	56				
KCNJ2	3759	broad.mit.edu	37	17	68171380	68171380	+	Missense_Mutation	SNP	G	G	A	rs199473368		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68171380G>A	ENST00000243457.3	+	2	583	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R67Q	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	67			R -> W (in LQT7). {ECO:0000269|PubMed:12148092}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGGGGCAACGGTACCTCGCA	0.517																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	GRCh37	CM070956	KCNJ2	M		c.(199-201)cGg>cAg		potassium inwardly-rectifying channel, subfamily J, member 2							215.0	156.0	176.0					17																	68171380		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171380G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.200G>A	17.37:g.68171380G>A	ENSP00000243457:p.Arg67Gln					KCNJ2_ENST00000535240.1_Missense_Mutation_p.R67Q	p.R67Q	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	583	+	Breast(10;1.64e-08)		67		R -> W (in LQT7).			O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.200G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356628	0.82243	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.96745	-4.11;-4.11	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98469	0.9490	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98826	1.0749	9	.	.	.	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	67	P63252	IRK2_HUMAN	Q	67	ENSP00000441848:R67Q;ENSP00000243457:R67Q	.	R	+	2	0	KCNJ2	65682975	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	9.869000	0.99810	2.662000	0.90505	0.555000	0.69702	CGG		0.517	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		26	45	0	0	0	1	0	26	45				
INTS1	26173	broad.mit.edu	37	7	1538953	1538953	+	Missense_Mutation	SNP	C	C	A	rs185965284	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:1538953C>A	ENST00000404767.3	-	7	973	c.888G>T	c.(886-888)caG>caT	p.Q296H	INTS1_ENST00000389470.4_Missense_Mutation_p.Q424H|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	296					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAACTCCGTCTGGCTGTCCT	0.697																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1270-1272)caG>caT		integrator complex subunit 1							67.0	78.0	75.0					7																	1538953		2071	4204	6275	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538953C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.888G>T	7.37:g.1538953C>A	ENSP00000385722:p.Gln296His					INTS1_ENST00000404767.3_Missense_Mutation_p.Q296H	p.Q424H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	8	1271	-		Ovarian(82;0.0253)	296					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1272G>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772674	0.49680	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47177	0.85;0.86	4.85	3.01	0.34805	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.47716	1.5	0.52501	D	0.999956	B;D	0.61697	0.086;0.99	B;P	0.58660	0.095;0.843	T	0.49143	-0.8970	10	0.44086	T	0.13	.	11.3704	0.49696	0.0:0.8554:0.0:0.1446	.	424;296	A4D212;Q8N201	.;INT1_HUMAN	H	296;424	ENSP00000385722:Q296H;ENSP00000374121:Q424H	ENSP00000374121:Q424H	Q	-	3	2	INTS1	1505479	1.000000	0.71417	0.996000	0.52242	0.438000	0.31896	3.686000	0.54685	0.432000	0.26286	0.563000	0.77884	CAG		0.697	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			5	127	1	0	0.217242	1	0.218821	5	127				
PDS5A	23244	broad.mit.edu	37	4	39881439	39881439	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39881439A>C	ENST00000303538.8	-	18	2440	c.1901T>G	c.(1900-1902)tTg>tGg	p.L634W		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTATTCATCAATTTCACTAG	0.358																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1900-1902)tTg>tGg		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							110.0	105.0	106.0					4																	39881439		1868	4100	5968	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39881439A>C	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1901T>G	4.37:g.39881439A>C	ENSP00000303427:p.Leu634Trp						p.L634W	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			18	2440	-			634						Missense_Mutation	SNP	ENST00000303538.8	37	c.1901T>G	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.170599	0.78452	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	L	0.59436	1.845	0.80722	D	1	D	0.54047	0.964	D	0.65773	0.938	T	0.74315	-0.3705	8	.	.	.	-6.1039	15.6379	0.76970	1.0:0.0:0.0:0.0	.	634	Q29RF7	PDS5A_HUMAN	W	634	.	.	L	-	2	0	PDS5A	39557834	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	4.099000	0.57755	2.101000	0.63845	0.383000	0.25322	TTG		0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		27	39	0	0	0	1	0	27	39				
TRRAP	8295	broad.mit.edu	37	7	98562283	98562283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98562283C>T	ENST00000359863.4	+	47	7049	c.6840C>T	c.(6838-6840)agC>agT	p.S2280S	TRRAP_ENST00000446306.3_Silent_p.S2261S|TRRAP_ENST00000355540.3_Silent_p.S2262S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2280	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCCTGCAGCAACAACCCCA	0.478																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(6838-6840)agC>agT		transformation/transcription domain-associated protein							103.0	95.0	98.0					7																	98562283		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98562283C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6840C>T	7.37:g.98562283C>T						TRRAP_ENST00000355540.3_Silent_p.S2262S|TRRAP_ENST00000446306.3_Silent_p.S2261S	p.S2280S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		47	7049	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2280			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.6840C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.860	1.196148	0.22037	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.17	2.96	0.34315	.	.	.	.	.	T	0.60235	0.2253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58031	-0.7708	4	.	.	.	.	10.8345	0.46679	0.0:0.7505:0.0:0.2495	.	.	.	.	V	2002	.	.	A	+	2	0	TRRAP	98400219	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.419000	0.21247	1.300000	0.44818	0.655000	0.94253	GCA		0.478	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		21	79	0	0	0	1	0	21	79				
EFCAB6	64800	broad.mit.edu	37	22	44083420	44083420	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44083420A>G	ENST00000262726.7	-	11	1326	c.1073T>C	c.(1072-1074)tTt>tCt	p.F358S	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.F206S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGATGTTAGAAATTGCTTCCA	0.299																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1072-1074)tTt>tCt		EF-hand calcium binding domain 6							63.0	63.0	63.0					22																	44083420		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083420A>G	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1073T>C	22.37:g.44083420A>G	ENSP00000262726:p.Phe358Ser					EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.F206S	p.F358S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1326	-		Ovarian(80;0.0247)|all_neural(38;0.025)	358					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1073T>C	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379476	0.61845	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.21734	1.99;1.99	4.68	4.68	0.58851	.	0.167101	0.41605	D	0.000847	T	0.43366	0.1244	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.39440	-0.9614	10	0.87932	D	0	-22.526	10.6997	0.45920	1.0:0.0:0.0:0.0	.	358;358	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	S	206;358	ENSP00000379533:F206S;ENSP00000262726:F358S	ENSP00000262726:F358S	F	-	2	0	EFCAB6	42414753	0.999000	0.42202	0.687000	0.30102	0.755000	0.42902	3.515000	0.53429	2.098000	0.63641	0.533000	0.62120	TTT		0.299	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		15	28	0	0	0	1	0	15	28				
KDM5A	5927	broad.mit.edu	37	12	416169	416169	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:416169A>G	ENST00000399788.2	-	24	4379	c.4017T>C	c.(4015-4017)gaT>gaC	p.D1339D	KDM5A_ENST00000382815.4_Silent_p.D1339D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1339					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTCTTCATCATCATAGTCCA	0.433			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(4015-4017)gaT>gaC		lysine (K)-specific demethylase 5A							292.0	267.0	275.0					12																	416169		2009	4190	6199	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416169A>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4017T>C	12.37:g.416169A>G						KDM5A_ENST00000382815.4_Silent_p.D1339D	p.D1339D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			24	4379	-			1339					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.4017T>C	CCDS41736.1																																																																																				0.433	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		5	223	0	0	0	1	0	5	223				
EIF4A3	9775	broad.mit.edu	37	17	78109893	78109893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78109893C>T	ENST00000269349.3	-	11	1350	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	377	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.A377P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			AAGTTAATGGCCACACCCTTC	0.393																																						ENST00000269349.3																			1	Substitution - Missense(1)	p.A377P(1)	ovary(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(1129-1131)Gcc>Acc		eukaryotic translation initiation factor 4A3							124.0	115.0	118.0					17																	78109893		2203	4300	6503	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78109893C>T	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.1129G>A	17.37:g.78109893C>T	ENSP00000269349:p.Ala377Thr						p.A377T	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		11	1350	-	all_neural(118;0.117)		377			Helicase C-terminal.		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.1129G>A	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599545	0.66332	.	.	ENSG00000141543	ENST00000269349	T	0.06142	3.34	4.18	4.18	0.49190	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	M	0.78223	2.4	0.80722	D	1	D	0.60575	0.988	P	0.57152	0.814	T	0.01159	-1.1433	10	0.87932	D	0	-27.3079	14.0211	0.64555	0.0:1.0:0.0:0.0	.	377	P38919	IF4A3_HUMAN	T	377	ENSP00000269349:A377T	ENSP00000269349:A377T	A	-	1	0	EIF4A3	75724488	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.212000	0.77941	2.185000	0.69588	0.555000	0.69702	GCC		0.393	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		33	42	0	0	0	1	0	33	42				
PAPOLA	10914	broad.mit.edu	37	14	96998682	96998682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96998682G>A	ENST00000216277.8	+	8	842	c.622G>A	c.(622-624)Gat>Aat	p.D208N	PAPOLA_ENST00000392990.2_Missense_Mutation_p.D208N|PAPOLA_ENST00000557320.1_Missense_Mutation_p.D208N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	208				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935). {ECO:0000305}.	gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGGGTAACCGATGAAATTTT	0.348																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(622-624)Gat>Aat		poly(A) polymerase alpha							69.0	67.0	68.0					14																	96998682		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96998682G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.622G>A	14.37:g.96998682G>A	ENSP00000216277:p.Asp208Asn					PAPOLA_ENST00000557320.1_Missense_Mutation_p.D208N|PAPOLA_ENST00000392990.2_Missense_Mutation_p.D208N	p.D208N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	8	842	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	208	CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).				Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.622G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577426	0.96565	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000392990	.	.	.	5.67	5.67	0.87782	Poly(A) polymerase, central domain (1);	0.048441	0.85682	D	0.000000	D	0.82921	0.5142	M	0.86864	2.845	0.80722	D	1	D;D;D;P	0.69078	0.997;0.993;0.995;0.883	P;P;P;B	0.58873	0.763;0.775;0.847;0.361	D	0.85125	0.0971	9	0.62326	D	0.03	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	224;224;208;208	F5H5I8;B4DYF4;P51003;P51003-2	.;.;PAPOA_HUMAN;.	N	208;208;224;208	.	ENSP00000216277:D208N	D	+	1	0	PAPOLA	96068435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.766000	0.98957	2.697000	0.92050	0.655000	0.94253	GAT		0.348	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			12	25	0	0	0	1	0	12	25				
ABCA13	154664	broad.mit.edu	37	7	48312581	48312581	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48312581C>T	ENST00000435803.1	+	17	3342	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1106					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAATAAACACATTTCTTCCG	0.318																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(3316-3318)caC>caT		ATP-binding cassette, sub-family A (ABC1), member 13							51.0	50.0	50.0					7																	48312581		1818	4075	5893	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312581C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3318C>T	7.37:g.48312581C>T							p.H1106H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	3342	+			1106					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.3318C>T	CCDS47584.1																																																																																				0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		21	36	0	0	0	1	0	21	36				
ACIN1	22985	broad.mit.edu	37	14	23549333	23549333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549333C>A	ENST00000262710.1	-	6	1712	c.1385G>T	c.(1384-1386)aGg>aTg	p.R462M	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R404M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R422M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R462M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	462					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TAATAGCTCCCTGGTGTCAGC	0.502																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1384-1386)aGg>aTg		apoptotic chromatin condensation inducer 1							77.0	79.0	79.0					14																	23549333		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549333C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1385G>T	14.37:g.23549333C>A	ENSP00000262710:p.Arg462Met					ACIN1_ENST00000605057.1_Missense_Mutation_p.R404M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R422M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R462M	p.R462M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1712	-	all_cancers(95;1.36e-05)		462					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.1385G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937287	0.52972	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.25085	1.82;1.82;1.82	5.42	2.43	0.29744	.	0.000000	0.44483	D	0.000460	T	0.21347	0.0514	N	0.24115	0.695	0.25250	N	0.989684	P;P;D	0.56521	0.955;0.924;0.976	P;P;P	0.51135	0.66;0.459;0.556	T	0.04347	-1.0958	10	0.72032	D	0.01	-3.7634	6.0902	0.19991	0.0:0.6841:0.0:0.3159	.	462;462;422	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	M	462;422;462	ENSP00000262710:R462M;ENSP00000405677:R422M;ENSP00000451328:R462M	ENSP00000262710:R462M	R	-	2	0	ACIN1	22619173	0.132000	0.22450	0.996000	0.52242	0.962000	0.63368	-0.985000	0.03751	0.852000	0.35287	0.650000	0.86243	AGG		0.502	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	71	1	0	5.18039e-06	1	5.91835e-06	7	71				
SCAMP4	113178	broad.mit.edu	37	19	1918987	1918987	+	Silent	SNP	G	G	A	rs201790720	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1918987G>A	ENST00000316097.8	+	5	660	c.393G>A	c.(391-393)gcG>gcA	p.A131A	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	131					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGGCGCGTGGTAAGCCT	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12990	0.0		0.0	False		,,,				2504	0.0					ENST00000316097.8																			0											c.(391-393)gcG>gcA		secretory carrier membrane protein 4							41.0	48.0	46.0					19																	1918987		2095	4214	6309	SO:0001819	synonymous_variant	113178				protein transport	integral to membrane		g.chr19:1918987G>A	AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"""Secretory carrier membrane proteins"""	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.393G>A	19.37:g.1918987G>A						SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_3'UTR	p.A131A	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	660	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	131					Q8N2N1|Q8NAV0	Silent	SNP	ENST00000316097.8	37	c.393G>A	CCDS45903.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.576	-0.839156	0.02692	.	.	ENSG00000227500	ENST00000414057	.	.	.	3.83	-7.66	0.01277	.	.	.	.	.	T	0.46249	0.1383	.	.	.	0.50813	D	0.999891	.	.	.	.	.	.	T	0.50092	-0.8868	4	.	.	.	-5.6787	6.6726	0.23076	0.2488:0.0:0.5564:0.1948	.	.	.	.	H	141	.	.	R	+	2	0	SCAMP4	1869987	0.000000	0.05858	0.870000	0.34147	0.153000	0.21895	-4.739000	0.00191	-1.760000	0.01312	-0.379000	0.06801	CGT		0.612	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336210.3	NM_079834		3	8	0	0	0	1	0	3	8				
OR52E2	119678	broad.mit.edu	37	11	5080059	5080059	+	Nonsense_Mutation	SNP	G	G	A	rs146178299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080059G>A	ENST00000321522.2	-	1	798	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCACATTTCGGCCAAAGCGA	0.473																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(799-801)Cga>Tga		olfactory receptor, family 52, subfamily E, member 2		G	stop/ARG	0,4402		0,0,2201	87.0	88.0	88.0		799	0.1	0.0	11	dbSNP_134	88	1,8595		0,1,4297	yes	stop-gained	OR52E2	NM_001005164.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		267/326	5080059	1,12997	2201	4298	6499	SO:0001587	stop_gained	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080059G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.799C>T	11.37:g.5080059G>A	ENSP00000322088:p.Arg267*						p.R267*	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	798	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	267						Nonsense_Mutation	SNP	ENST00000321522.2	37	c.799C>T	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699738	0.30142	0.0	1.16E-4	ENSG00000176787	ENST00000321522	.	.	.	3.76	0.0967	0.14491	.	0.632123	0.13963	N	0.350677	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.7112	0.34385	0.0:0.1192:0.2336:0.6472	.	.	.	.	X	267	.	ENSP00000322088:R267X	R	-	1	2	OR52E2	5036635	0.000000	0.05858	0.001000	0.08648	0.368000	0.29767	-1.380000	0.02551	0.027000	0.15297	0.644000	0.83932	CGA		0.473	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		30	17	0	0	0	1	0	30	17				
ASPM	259266	broad.mit.edu	37	1	197074288	197074288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197074288G>A	ENST00000367409.4	-	18	4349	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1365	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAAATCTTTGTCTAGTGGAA	0.303																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4093-4095)Caa>Taa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							38.0	41.0	40.0					1																	197074288		2095	4232	6327	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197074288G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4093C>T	1.37:g.197074288G>A	ENSP00000356379:p.Gln1365*					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.Q1365*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	4349	-			1365			IQ 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.4093C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	44	10.556166	0.99427	.	.	ENSG00000066279	ENST00000367409	.	.	.	5.43	4.3	0.51218	.	0.282600	0.35291	N	0.003316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2946	0.54838	0.0:0.0:0.142:0.858	.	.	.	.	X	1365	.	ENSP00000356379:Q1365X	Q	-	1	0	ASPM	195340911	1.000000	0.71417	0.912000	0.35992	0.871000	0.50021	3.937000	0.56575	1.006000	0.39211	-0.272000	0.10252	CAA		0.303	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		39	40	0	0	0	1	0	39	40				
NDUFAF4	29078	broad.mit.edu	37	6	97339264	97339264	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97339264T>C	ENST00000316149.7	-	3	323	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	82					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TCAGCAGCTTTTACCTAGTAT	0.328																																						ENST00000316149.7																			0				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						c.(244-246)Aaa>Gaa		NADH dehydrogenase (ubiquinone) complex I, assembly factor 4							58.0	61.0	60.0					6																	97339264		2202	4299	6501	SO:0001583	missense	29078				mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	g.chr6:97339264T>C	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.244A>G	6.37:g.97339264T>C	ENSP00000358272:p.Lys82Glu					NDUFAF4_ENST00000489477.1_5'UTR	p.K82E	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN			3	323	-			82					B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	c.244A>G	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610879	0.28712	.	.	ENSG00000123545	ENST00000316149	D	0.82803	-1.65	4.74	3.58	0.41010	.	0.389995	0.29868	N	0.010997	T	0.79885	0.4523	M	0.83852	2.665	0.36986	D	0.894545	B	0.33379	0.41	B	0.42522	0.39	T	0.77250	-0.2657	10	0.30854	T	0.27	.	11.8137	0.52197	0.0:0.0:0.1469:0.8531	.	82	Q9P032	NDUF4_HUMAN	E	82	ENSP00000358272:K82E	ENSP00000358272:K82E	K	-	1	0	NDUFAF4	97445985	0.457000	0.25752	0.449000	0.26957	0.478000	0.33099	1.941000	0.40233	0.849000	0.35215	-0.264000	0.10439	AAA		0.328	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		12	63	0	0	0	1	0	12	63				
RGS7	6000	broad.mit.edu	37	1	240966253	240966253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240966253C>T	ENST00000407727.1	-	15	1309	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RGS7_ENST00000366565.1_Missense_Mutation_p.R437H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H|RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000366564.1_Missense_Mutation_p.R437H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000331110.7_Missense_Mutation_p.R411H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	437	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1309-1311)cGt>cAt		regulator of G-protein signaling 7							140.0	149.0	146.0					1																	240966253		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240966253C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1310G>A	1.37:g.240966253C>T	ENSP00000384428:p.Arg437His					RGS7_ENST00000407727.1_Missense_Mutation_p.R437H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000331110.7_Missense_Mutation_p.R411H|RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H|RGS7_ENST00000366564.1_Missense_Mutation_p.R437H	p.R437H	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1691	-		all_cancers(173;0.0131)	437			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1310G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.446591	0.96205	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.02197	4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4	6.04	6.04	0.98038	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.048470	0.85682	D	0.000000	T	0.25717	0.0626	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.994;0.977;0.977;0.989;0.96;0.996;0.977	T	0.37596	-0.9699	10	0.87932	D	0	.	19.583	0.95478	0.0:1.0:0.0:0.0	.	353;411;384;437;437;437;437	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	H	411;437;437;437;268;384;353;437;437;384	ENSP00000331485:R411H;ENSP00000355523:R437H;ENSP00000355522:R437H;ENSP00000355521:R437H;ENSP00000404399:R268H;ENSP00000341242:R384H;ENSP00000390138:R353H;ENSP00000355520:R437H;ENSP00000384428:R437H;ENSP00000385508:R384H	ENSP00000331485:R411H	R	-	2	0	RGS7	239032876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	CGT		0.343	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		50	80	0	0	0	1	0	50	80				
GNB5	10681	broad.mit.edu	37	15	52446271	52446271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52446271G>A	ENST00000261837.7	-	4	306	c.241C>T	c.(241-243)Cac>Tac	p.H81Y	GNB5_ENST00000560116.1_Missense_Mutation_p.H39Y|GNB5_ENST00000396335.4_Missense_Mutation_p.H39Y|GNB5_ENST00000358784.7_Missense_Mutation_p.H39Y	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	81					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCACCTGGTGCACTGGAATG	0.592																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(241-243)Cac>Tac		guanine nucleotide binding protein (G protein), beta 5							64.0	55.0	58.0					15																	52446271		2195	4293	6488	SO:0001583	missense	0					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52446271G>A	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.241C>T	15.37:g.52446271G>A	ENSP00000261837:p.His81Tyr					GNB5_ENST00000358784.7_Missense_Mutation_p.H39Y|GNB5_ENST00000560116.1_Missense_Mutation_p.H39Y|GNB5_ENST00000396335.4_Missense_Mutation_p.H39Y	p.H81Y	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN		all cancers(107;0.0163)	4	306	-			81					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.241C>T	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841278	0.71488	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000358784	T;T;T	0.57752	5.07;0.38;5.07	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098534	0.64402	D	0.000001	T	0.43188	0.1236	L	0.38175	1.15	0.80722	D	1	P;B;B	0.52170	0.951;0.345;0.108	B;B;B	0.42462	0.388;0.098;0.042	T	0.42172	-0.9467	10	0.02654	T	1	-17.6533	19.5436	0.95283	0.0:0.0:1.0:0.0	.	39;81;39	Q96F32;O14775;O14775-3	.;GBB5_HUMAN;.	Y	81;39;39	ENSP00000261837:H81Y;ENSP00000379626:H39Y;ENSP00000351635:H39Y	ENSP00000261837:H81Y	H	-	1	0	GNB5	50233563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.692000	0.98682	2.608000	0.88229	0.558000	0.71614	CAC		0.592	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			12	6	0	0	0	1	0	12	6				
NUP93	9688	broad.mit.edu	37	16	56868649	56868649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56868649G>A	ENST00000308159.5	+	16	1862	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	NUP93_ENST00000564887.1_Missense_Mutation_p.D458N|NUP93_ENST00000542526.1_Missense_Mutation_p.D458N|NUP93_ENST00000569842.1_Missense_Mutation_p.D581N	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	581					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCACAGTTCGATATGATTCT	0.338																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1372-1374)Gat>Aat		nucleoporin 93kDa							78.0	77.0	77.0					16																	56868649		2198	4299	6497	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56868649G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1741G>A	16.37:g.56868649G>A	ENSP00000310668:p.Asp581Asn					NUP93_ENST00000542526.1_Missense_Mutation_p.D458N|NUP93_ENST00000308159.5_Missense_Mutation_p.D581N|NUP93_ENST00000569842.1_Missense_Mutation_p.D581N	p.D458N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			14	2001	+			581					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.1372G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558440	0.96514	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44881	0.91;0.91	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.49778	1.585	0.80722	D	1	P	0.43024	0.798	B	0.41571	0.36	T	0.14364	-1.0475	10	0.16896	T	0.51	-19.2771	20.04	0.97581	0.0:0.0:1.0:0.0	.	581	Q8N1F7	NUP93_HUMAN	N	581;458	ENSP00000310668:D581N;ENSP00000440235:D458N	ENSP00000310668:D581N	D	+	1	0	NUP93	55426150	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	9.312000	0.96287	2.733000	0.93635	0.655000	0.94253	GAT		0.338	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		6	42	0	0	0	1	0	6	42				
ABCB6	10058	broad.mit.edu	37	2	220078891	220078891	+	Silent	SNP	G	G	A	rs144749234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220078891G>A	ENST00000265316.3	-	8	1720	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ABCB6_ENST00000439002.2_Silent_p.A422A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	468	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTAACTCTCGGCGTTGTAAT	0.488																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1402-1404)gcC>gcT		ATP-binding cassette, sub-family B (MDR/TAP), member 6		G		1,4405	2.1+/-5.4	0,1,2202	139.0	129.0	132.0		1404	-10.7	0.0	2	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	ABCB6	NM_005689.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		468/843	220078891	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220078891G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1404C>T	2.37:g.220078891G>A						ABCB6_ENST00000439002.2_Silent_p.A422A	p.A468A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1720	-		Renal(207;0.0474)	468			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	c.1404C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199321	0.06219	2.27E-4	0.0	ENSG00000115657	ENST00000295750	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.31949	0.0813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	4	.	.	.	-17.4727	1.3189	0.02112	0.3041:0.255:0.0822:0.3588	.	.	.	.	L	316	.	.	P	-	2	0	ABCB6	219787135	0.000000	0.05858	0.000000	0.03702	0.384000	0.30261	-3.828000	0.00356	-3.863000	0.00097	-0.423000	0.05987	CCG		0.488	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		28	58	0	0	0	1	0	28	58				
MGAT3	4248	broad.mit.edu	37	22	39883969	39883969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39883969G>A	ENST00000341184.6	+	2	832	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	206					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GAGGTGCCGCGCCGCGTCATC	0.677																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(616-618)cGc>cAc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							31.0	26.0	28.0					22																	39883969		2203	4300	6503	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883969G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.617G>A	22.37:g.39883969G>A	ENSP00000345270:p.Arg206His						p.R206H	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	832	+	Melanoma(58;0.04)		206					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.617G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	31	5.096123	0.94197	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	M	0.82323	2.585	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	D	0.85230	0.1032	9	0.62326	D	0.03	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	206	Q09327	MGAT3_HUMAN	H	206	.	ENSP00000345270:R206H	R	+	2	0	MGAT3	38213915	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.180000	0.71981	2.697000	0.92050	0.655000	0.94253	CGC		0.677	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		8	8	0	0	0	1	0	8	8				
GALNS	2588	broad.mit.edu	37	16	88901652	88901652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88901652G>A	ENST00000268695.5	-	8	955	c.867C>T	c.(865-867)aaC>aaT	p.N289N	GALNS_ENST00000542788.1_Silent_p.N214N	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	289	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGGCAGCGCCGTTGTCCGACG	0.602																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(865-867)aaC>aaT		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						131.0	95.0	107.0					16																	88901652		2197	4300	6497	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88901652G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.867C>T	16.37:g.88901652G>A						GALNS_ENST00000542788.1_Silent_p.N214N	p.N289N	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	8	955	-			289					Q86VK3	Silent	SNP	ENST00000268695.5	37	c.867C>T	CCDS10970.1																																																																																				0.602	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			6	10	0	0	0	1	0	6	10				
MAGI3	260425	broad.mit.edu	37	1	114128135	114128135	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114128135G>A	ENST00000307546.9	+	4	755	c.680G>A	c.(679-681)aGc>aAc	p.S227N	MAGI3_ENST00000369611.4_Missense_Mutation_p.S227N|MAGI3_ENST00000369617.4_Missense_Mutation_p.S227N|MAGI3_ENST00000369615.1_Missense_Mutation_p.S227N	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	227	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATCTGTCAGCAAGATGGAA	0.428																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(679-681)aGc>aAc		membrane associated guanylate kinase, WW and PDZ domain containing 3							95.0	91.0	92.0					1																	114128135		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114128135G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.680G>A	1.37:g.114128135G>A	ENSP00000304604:p.Ser227Asn					MAGI3_ENST00000369617.4_Missense_Mutation_p.S227N|MAGI3_ENST00000307546.9_Missense_Mutation_p.S227N|MAGI3_ENST00000369611.4_Missense_Mutation_p.S227N	p.S227N	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	742	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	227			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.680G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813206	0.70912	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.18810	2.4;2.19;2.4;2.4	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	L	0.31845	0.965	0.80722	D	1	D;P;D	0.89917	0.976;0.661;1.0	P;B;D	0.74023	0.807;0.359;0.982	T	0.01130	-1.1442	10	0.15066	T	0.55	-4.5288	20.3559	0.98840	0.0:0.0:1.0:0.0	.	227;227;227	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	N	227	ENSP00000358630:S227N;ENSP00000304604:S227N;ENSP00000358628:S227N;ENSP00000358624:S227N	ENSP00000304604:S227N	S	+	2	0	MAGI3	113929658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	AGC		0.428	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		23	46	0	0	0	1	0	23	46				
TIPARP	25976	broad.mit.edu	37	3	156422836	156422836	+	Missense_Mutation	SNP	G	G	T	rs374432335		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422836G>T	ENST00000461166.1	+	6	2478	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	TIPARP_ENST00000542783.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000486483.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000295924.7_Missense_Mutation_p.Q630H	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	630	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ttgagcctcagatttttgtca	0.413																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1888-1890)caG>caT		TCDD-inducible poly(ADP-ribose) polymerase							56.0	59.0	58.0					3																	156422836		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156422836G>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1890G>T	3.37:g.156422836G>T	ENSP00000420612:p.Gln630His					TIPARP_ENST00000542783.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000486483.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000295924.7_Missense_Mutation_p.Q630H	p.Q630H	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		6	2478	+			630			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1890G>T	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.55|13.55	2.269770|2.269770	0.40095|0.40095	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000481853;ENST00000542783	.|T;T;T;T;T	.|0.13420	.|2.59;2.59;2.59;2.59;2.59	5.77|5.77	3.86|3.86	0.44501|0.44501	.|Poly(ADP-ribose) polymerase, catalytic domain (2);	.|0.052189	.|0.85682	.|D	.|0.000000	T|T	0.10852|0.10852	0.0265|0.0265	L|L	0.33753|0.33753	1.03|1.03	0.52501|0.52501	D|D	0.999952|0.999952	.|P	.|0.35077	.|0.483	.|B	.|0.32465	.|0.146	T|T	0.10382|0.10382	-1.0632|-1.0632	5|10	.|0.54805	.|T	.|0.06	.|.	11.1333|11.1333	0.48360|0.48360	0.0705:0.1285:0.801:0.0|0.0705:0.1285:0.801:0.0	.|.	.|630	.|Q7Z3E1	.|PARPT_HUMAN	Y|H	333|630	.|ENSP00000418757:Q630H;ENSP00000295924:Q630H;ENSP00000420612:Q630H;ENSP00000418829:Q630H;ENSP00000438345:Q630H	.|ENSP00000295924:Q630H	D|Q	+|+	1|3	0|2	TIPARP|TIPARP	157905530|157905530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.956000|3.956000	0.56722|0.56722	1.418000|1.418000	0.47098|0.47098	0.650000|0.650000	0.86243|0.86243	GAT|CAG		0.413	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		8	69	1	0	0.0381472	1	0.0390147	8	69				
SFN	2810	broad.mit.edu	37	1	27189909	27189909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27189909G>A	ENST00000339276.4	+	1	277	c.206G>A	c.(205-207)aGc>aAc	p.S69N		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCAGAAAAGCAACGAGGAG	0.627																																						ENST00000339276.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9						c.(205-207)aGc>aAc		stratifin							68.0	72.0	71.0					1																	27189909		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27189909G>A	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.206G>A	1.37:g.27189909G>A	ENSP00000340989:p.Ser69Asn						p.S69N	NM_006142.3	NP_006133.1	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	277	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	69					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.206G>A	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058176	0.55325	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.42900	0.96	5.96	5.96	0.96718	14-3-3 domain (4);	0.621740	0.17423	N	0.174770	T	0.40247	0.1109	L	0.48642	1.525	0.28937	N	0.891195	B	0.13594	0.008	B	0.12837	0.008	T	0.35943	-0.9768	10	0.72032	D	0.01	-13.8749	14.5394	0.67982	0.0:0.2545:0.7455:0.0	.	69	P31947	1433S_HUMAN	N	69	ENSP00000340989:S69N	ENSP00000340989:S69N	S	+	2	0	SFN	27062496	1.000000	0.71417	0.861000	0.33841	0.887000	0.51463	6.877000	0.75562	2.813000	0.96785	0.655000	0.94253	AGC		0.627	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		24	40	0	0	0	1	0	24	40				
TCHH	7062	broad.mit.edu	37	1	152085221	152085221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152085221G>A	ENST00000368804.1	-	2	471	c.472C>T	c.(472-474)Caa>Taa	p.Q158*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	158					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCGCTCTTGTTTCTCACTT	0.597																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(472-474)Caa>Taa		trichohyalin							205.0	208.0	207.0					1																	152085221		2096	4210	6306	SO:0001587	stop_gained	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085221G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.472C>T	1.37:g.152085221G>A	ENSP00000357794:p.Gln158*						p.Q158*	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	471	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		158					Q5VUI3	Nonsense_Mutation	SNP	ENST00000368804.1	37	c.472C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	15.83	2.949701	0.53186	.	.	ENSG00000159450	ENST00000368804	.	.	.	4.17	3.22	0.36961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.5018	5.4004	0.16293	0.108:0.0:0.6933:0.1986	.	.	.	.	X	158	.	ENSP00000357794:Q158X	Q	-	1	0	TCHH	150351845	0.002000	0.14202	0.007000	0.13788	0.027000	0.11550	0.961000	0.29267	2.126000	0.65437	0.552000	0.68991	CAA		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		77	82	0	0	0	1	0	77	82				
STYK1	55359	broad.mit.edu	37	12	10772829	10772829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772829C>A	ENST00000075503.3	-	11	1703	c.1183G>T	c.(1183-1185)Gta>Tta	p.V395L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	395			V -> I (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V395I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTCTGGTACTTGTAACACA	0.552										HNSCC(73;0.22)																												ENST00000075503.3																			1	Substitution - Missense(1)	p.V395I(1)	central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(1183-1185)Gta>Tta		serine/threonine/tyrosine kinase 1							196.0	187.0	190.0					12																	10772829		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772829C>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1183G>T	12.37:g.10772829C>A	ENSP00000075503:p.Val395Leu	HNSCC(73;0.22)					p.V395L	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			11	1703	-			395		V -> I (in a glioblastoma multiforme sample; somatic mutation).			B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1183G>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559995	0.86335	.	.	ENSG00000060140	ENST00000075503	T	0.78126	-1.15	4.96	4.96	0.65561	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000031	T	0.81964	0.4934	M	0.71581	2.175	0.51233	D	0.999914	D	0.67145	0.996	P	0.58130	0.833	T	0.79586	-0.1742	10	0.02654	T	1	-12.9408	15.6766	0.77332	0.0:1.0:0.0:0.0	.	395	Q6J9G0	STYK1_HUMAN	L	395	ENSP00000075503:V395L	ENSP00000075503:V395L	V	-	1	0	STYK1	10664096	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.341000	0.52151	2.279000	0.76181	0.563000	0.77884	GTA		0.552	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		8	193	1	0	3.86212e-05	1	4.30401e-05	8	193				
FERMT3	83706	broad.mit.edu	37	11	63988555	63988555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63988555G>A	ENST00000279227.5	+	13	1720	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCCCAGCTGCGCTTCATCCAG	0.667																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1624-1626)cGc>cAc		fermitin family member 3							99.0	86.0	90.0					11																	63988555		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63988555G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1625G>A	11.37:g.63988555G>A	ENSP00000279227:p.Arg542His					FERMT3_ENST00000345728.5_Missense_Mutation_p.R538H	p.R542H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			13	1720	+			542			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1625G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074037	0.76415	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	T;T	0.78707	-1.2;-1.2	4.29	4.29	0.51040	Band 4.1 domain (1);FERM central domain (2);	0.068219	0.56097	D	0.000029	D	0.82618	0.5076	L	0.52905	1.665	0.47341	D	0.999393	D;D	0.76494	0.999;0.999	P;D	0.65773	0.855;0.938	D	0.83429	0.0037	10	0.66056	D	0.02	-26.3612	10.3526	0.43945	0.0965:0.0:0.9035:0.0	.	538;542	Q86UX7-2;Q86UX7	.;URP2_HUMAN	H	538;542	ENSP00000339950:R538H;ENSP00000279227:R542H	ENSP00000279227:R542H	R	+	2	0	FERMT3	63745131	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.565000	0.53798	2.386000	0.81285	0.462000	0.41574	CGC		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		20	51	0	0	0	1	0	20	51				
KIAA0247	9766	broad.mit.edu	37	14	70125397	70125397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70125397C>A	ENST00000342745.4	+	2	401	c.88C>A	c.(88-90)Ctt>Att	p.L30I		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	30						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GCTAGTGATCCTTTGCACCCT	0.517																																						ENST00000342745.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10						c.(88-90)Ctt>Att		KIAA0247							243.0	185.0	205.0					14																	70125397		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70125397C>A	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.88C>A	14.37:g.70125397C>A	ENSP00000344424:p.Leu30Ile						p.L30I	NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	2	401	+			30						Missense_Mutation	SNP	ENST00000342745.4	37	c.88C>A	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157418	0.38119	.	.	ENSG00000100647	ENST00000342745	T	0.64803	-0.12	6.06	3.02	0.34903	.	0.205899	0.42821	D	0.000645	T	0.34308	0.0893	N	0.08118	0	0.23747	N	0.996956	B	0.06786	0.001	B	0.06405	0.002	T	0.07539	-1.0767	10	0.30078	T	0.28	-3.7469	4.483	0.11776	0.1893:0.6292:0.0:0.1815	.	30	Q92537	K0247_HUMAN	I	30	ENSP00000344424:L30I	ENSP00000344424:L30I	L	+	1	0	KIAA0247	69195150	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	1.246000	0.32803	1.563000	0.49615	0.650000	0.86243	CTT		0.517	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		4	97	1	0	0.000602214	1	0.000649039	4	97				
ZNF431	170959	broad.mit.edu	37	19	21366001	21366001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366001C>T	ENST00000311048.7	+	5	1039	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	299					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCTTCAACCGGTCCTCACA	0.408																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(895-897)Cgg>Tgg		zinc finger protein 431							58.0	62.0	61.0					19																	21366001		2201	4299	6500	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366001C>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.895C>T	19.37:g.21366001C>T	ENSP00000308578:p.Arg299Trp					ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	p.R299W	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	1039	+			299					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.895C>T	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	0.561	-0.845237	0.02671	.	.	ENSG00000196705	ENST00000311048	T	0.07444	3.19	0.876	-0.388	0.12459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	M	0.66506	2.035	0.09310	N	1	B	0.27932	0.194	B	0.16722	0.016	T	0.28459	-1.0043	9	0.34782	T	0.22	.	6.1805	0.20468	0.0:0.7669:0.0:0.2331	.	299	Q8TF32	ZN431_HUMAN	W	299	ENSP00000308578:R299W	ENSP00000308578:R299W	R	+	1	2	ZNF431	21157841	0.000000	0.05858	0.561000	0.28357	0.540000	0.34992	-4.722000	0.00194	0.293000	0.22520	0.298000	0.19748	CGG		0.408	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		8	43	0	0	0	1	0	8	43				
ZNF615	284370	broad.mit.edu	37	19	52497775	52497775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497775G>T	ENST00000602063.1	-	6	903	c.554C>A	c.(553-555)cCt>cAt	p.P185H	ZNF615_ENST00000594083.1_Missense_Mutation_p.P196H|ZNF615_ENST00000376716.5_Missense_Mutation_p.P185H|ZNF615_ENST00000391795.3_Missense_Mutation_p.P190H|ZNF615_ENST00000598071.1_Missense_Mutation_p.P196H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTATTAATAGGTTTTGCAAT	0.373																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(553-555)cCt>cAt		zinc finger protein 615							164.0	168.0	166.0					19																	52497775		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497775G>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.554C>A	19.37:g.52497775G>T	ENSP00000473089:p.Pro185His					ZNF615_ENST00000594083.1_Missense_Mutation_p.P196H|ZNF615_ENST00000598071.1_Missense_Mutation_p.P196H|ZNF615_ENST00000391795.3_Missense_Mutation_p.P190H|ZNF615_ENST00000376716.5_Missense_Mutation_p.P185H	p.P185H			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	903	-		all_neural(266;0.117)	185					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.554C>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	5.717	0.316771	0.10845	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07567	3.19;3.18	3.2	-0.276	0.12902	.	.	.	.	.	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	D;D;D;D	0.69078	0.994;0.997;0.997;0.994	P;P;P;P	0.59889	0.737;0.865;0.865;0.737	T	0.29701	-1.0003	9	0.11182	T	0.66	.	5.5563	0.17119	0.3952:0.0:0.6048:0.0	.	190;192;196;185	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	H	185;195;190;195	ENSP00000365906:P185H;ENSP00000375672:P190H	ENSP00000347019:P195H	P	-	2	0	ZNF615	57189587	0.000000	0.05858	0.139000	0.22197	0.287000	0.27160	-1.315000	0.02713	-0.072000	0.12864	0.655000	0.94253	CCT		0.373	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		11	130	1	0	4.68919e-08	1	5.58064e-08	11	130				
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	G	A	rs148209555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92353550G>A	ENST00000342058.4	-	7	1319	c.726C>T	c.(724-726)ggC>ggT	p.G242G	FBLN5_ENST00000267620.10_Silent_p.G283G|FBLN5_ENST00000556154.1_Silent_p.G247G	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547																																						ENST00000267620.10																			1	Substitution - coding silent(1)	p.G242G(1)	endometrium(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(847-849)ggC>ggT		fibulin 5		G		1,4405	2.1+/-5.4	0,1,2202	215.0	191.0	199.0		726	-10.6	0.0	14	dbSNP_134	199	0,8600		0,0,4300	no	coding-synonymous	FBLN5	NM_006329.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		242/449	92353550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353550G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.726C>T	14.37:g.92353550G>A						FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G	p.G283G			Q9UBX5	FBLN5_HUMAN			8	1018	-		all_cancers(154;0.0722)	242			EGF-like 5; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.849C>T	CCDS9898.1																																																																																				0.547	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			11	141	0	0	0	1	0	11	141				
ZFYVE16	9765	broad.mit.edu	37	5	79746290	79746290	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79746290G>A	ENST00000338008.5	+	9	3447	c.3267G>A	c.(3265-3267)ttG>ttA	p.L1089L	ZFYVE16_ENST00000510158.1_Silent_p.L1089L|ZFYVE16_ENST00000505560.1_Silent_p.L1089L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1089					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CCAATGGATTGCATGGCTTGG	0.299																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3265-3267)ttG>ttA		zinc finger, FYVE domain containing 16							96.0	96.0	96.0					5																	79746290		2203	4296	6499	SO:0001819	synonymous_variant	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79746290G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3267G>A	5.37:g.79746290G>A						ZFYVE16_ENST00000510158.1_Silent_p.L1089L|ZFYVE16_ENST00000505560.1_Silent_p.L1089L	p.L1089L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	9	3447	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1089					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Silent	SNP	ENST00000338008.5	37	c.3267G>A	CCDS4050.1																																																																																				0.299	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		4	82	0	0	0	1	0	4	82				
TTN	7273	broad.mit.edu	37	2	179542594	179542594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179542594C>T	ENST00000591111.1	-	144	33318	c.33094G>A	c.(33094-33096)Gag>Aag	p.E11032K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10105K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11349K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10172	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACTTCCTCTTCCTGAGGT	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34045-34047)Gag>Aag		titin							75.0	74.0	74.0					2																	179542594		1834	4076	5910	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542594C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33094G>A	2.37:g.179542594C>T	ENSP00000465570:p.Glu11032Lys					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10105K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11032K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.E11349K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		146	34269	-			11032			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.34045G>A		.	.	.	.	.	.	.	.	.	.	C	14.48	2.547093	0.45383	.	.	ENSG00000155657	ENST00000342992	T	0.71461	-0.57	5.9	5.9	0.94986	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.61274	0.2334	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.59579	-0.7428	8	0.87932	D	0	.	9.1271	0.36821	0.1472:0.779:0.0:0.0739	.	11032	Q8WZ42	TITIN_HUMAN	K	10105	ENSP00000343764:E10105K	ENSP00000343764:E10105K	E	-	1	0	TTN	179250839	0.927000	0.31430	0.977000	0.42913	0.674000	0.39518	1.483000	0.35497	2.808000	0.96608	0.650000	0.86243	GAG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	50	0	0	0	1	0	27	50				
EFCAB5	374786	broad.mit.edu	37	17	28380515	28380515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28380515G>T	ENST00000394835.3	+	10	1735	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E459*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E172*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E515*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	515							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGTAACTGCAGAACAAGGACC	0.398																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1543-1545)Gaa>Taa		EF-hand calcium binding domain 5							86.0	87.0	87.0					17																	28380515		1957	4153	6110	SO:0001587	stop_gained	374786						calcium ion binding	g.chr17:28380515G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1543G>T	17.37:g.28380515G>T	ENSP00000378312:p.Glu515*					EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E172*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E459*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E515*	p.E515*	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	1735	+			515					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	c.1543G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325233	0.41197	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.15	0.827	0.18835	.	0.599767	0.15504	N	0.258897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0093	8.6967	0.34301	0.3324:0.0:0.6676:0.0	.	.	.	.	X	459;258;172;515;515;515;515;459;321	.	ENSP00000322003:E515X	E	+	1	0	EFCAB5	25404641	0.012000	0.17670	0.001000	0.08648	0.150000	0.21749	0.559000	0.23485	0.115000	0.18071	0.655000	0.94253	GAA		0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		17	25	1	0	1.33834e-09	1	1.62941e-09	17	25				
KCNH7	90134	broad.mit.edu	37	2	163374646	163374646	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163374646G>A	ENST00000332142.5	-	4	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F	KCNH7_ENST00000328032.4_Silent_p.F162F|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	162					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCAGACCAGGGAATTTGAACC	0.388																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(484-486)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						49.0	53.0	51.0					2																	163374646		2203	4298	6501	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374646G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.486C>T	2.37:g.163374646G>A						KCNH7_ENST00000328032.4_Silent_p.F162F|KCNH7_ENST00000477019.1_5'UTR	p.F162F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	585	-			162					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.486C>T	CCDS2219.1																																																																																				0.388	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		28	38	0	0	0	1	0	28	38				
ZNF671	79891	broad.mit.edu	37	19	58232809	58232809	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232809A>G	ENST00000317398.6	-	4	740	c.645T>C	c.(643-645)aaT>aaC	p.N215N	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.N117N|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTTTCCCTCCATTGGGCTGGT	0.517																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(643-645)aaT>aaC		zinc finger protein 671							118.0	114.0	115.0					19																	58232809		2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232809A>G		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.645T>C	19.37:g.58232809A>G						AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.N117N	p.N215N	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	740	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	215					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.645T>C	CCDS12961.1																																																																																				0.517	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		30	59	0	0	0	1	0	30	59				
IGHV4-59	28392	broad.mit.edu	37	14	107083310	107083310	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107083310G>A	ENST00000455737.1	-	0	333									immunoglobulin heavy variable 4-59																		TCAGCTTCAGGGAGAACTGGT	0.532																																						ENST00000455737.1																			0																				76.0	77.0	77.0					14																	107083310		1822	4047	5869			0							g.chr14:107083310G>A	L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083310G>A														0	333	-									RNA	SNP	ENST00000455737.1	37																																																																																						0.532	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019		42	74	0	0	0	1	0	42	74				
YIPF2	78992	broad.mit.edu	37	19	11034337	11034337	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11034337G>T	ENST00000586748.1	-	8	840	c.668C>A	c.(667-669)cCt>cAt	p.P223H	YIPF2_ENST00000590329.1_Missense_Mutation_p.P184H|YIPF2_ENST00000253031.2_Missense_Mutation_p.P223H			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	223						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCAAGGCACAGGGATGAGCCA	0.687																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(667-669)cCt>cAt		Yip1 domain family, member 2							26.0	36.0	33.0					19																	11034337		2200	4292	6492	SO:0001583	missense	78992					integral to membrane|transport vesicle		g.chr19:11034337G>T	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.668C>A	19.37:g.11034337G>T	ENSP00000466055:p.Pro223His					YIPF2_ENST00000590329.1_Missense_Mutation_p.P184H|YIPF2_ENST00000253031.2_Missense_Mutation_p.P223H	p.P223H			Q9BWQ6	YIPF2_HUMAN			8	840	-			223						Missense_Mutation	SNP	ENST00000586748.1	37	c.668C>A	CCDS12251.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088834	0.76756	.	.	ENSG00000130733	ENST00000253031	T	0.41758	0.99	4.67	4.67	0.58626	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67764	-0.5586	10	0.62326	D	0.03	-27.6964	16.5286	0.84352	0.0:0.0:1.0:0.0	.	223	Q9BWQ6	YIPF2_HUMAN	H	223	ENSP00000253031:P223H	ENSP00000253031:P223H	P	-	2	0	YIPF2	10895337	1.000000	0.71417	0.941000	0.38009	0.694000	0.40290	9.048000	0.93830	2.421000	0.82119	0.563000	0.77884	CCT		0.687	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		4	24	1	0	0.150653	1	0.152692	4	24				
CAMKK2	10645	broad.mit.edu	37	12	121706459	121706459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121706459G>A	ENST00000324774.5	-	5	1435	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CAMKK2_ENST00000347034.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000392473.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R203W|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R203W|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R203W	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGCCTGCCGGATCAGCTTC	0.547																																						ENST00000324774.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(607-609)Cgg>Tgg		calcium/calmodulin-dependent protein kinase kinase 2, beta							142.0	137.0	139.0					12																	121706459		2203	4300	6503	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121706459G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.607C>T	12.37:g.121706459G>A	ENSP00000312741:p.Arg203Trp					CAMKK2_ENST00000392473.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R203W|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R203W	p.R203W	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			5	1435	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		203			Protein kinase.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.607C>T	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870812	0.72065	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.99	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	L	0.48877	1.53	0.54753	D	0.999983	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.79784	0.982;0.982;0.988;0.982;0.988;0.993;0.988	T	0.72500	-0.4274	10	0.87932	D	0	0.7979	10.9324	0.47226	0.0:0.0:0.4466:0.5534	.	203;203;203;203;203;203;203	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	W	203;203;203;203;203;203;203;186;203;203	ENSP00000376266:R203W;ENSP00000321230:R203W;ENSP00000445944:R203W;ENSP00000336634:R203W;ENSP00000312741:R203W;ENSP00000388368:R203W;ENSP00000384600:R203W;ENSP00000388273:R203W;ENSP00000376265:R203W	ENSP00000312741:R203W	R	-	1	2	CAMKK2	120190842	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.329000	0.52060	1.258000	0.44101	0.558000	0.71614	CGG		0.547	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		6	129	0	0	0	1	0	6	129				
SLC12A3	6559	broad.mit.edu	37	16	56913136	56913136	+	Silent	SNP	C	C	T	rs368907927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56913136C>T	ENST00000563236.1	+	10	1357	c.1332C>T	c.(1330-1332)taC>taT	p.Y444Y	SLC12A3_ENST00000566786.1_Silent_p.Y443Y|SLC12A3_ENST00000262502.5_Silent_p.Y443Y|SLC12A3_ENST00000438926.2_Silent_p.Y444Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	444					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCAACTATTACCAGGTACTGC	0.627																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1330-1332)taC>taT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	C	,,	1,4395		0,1,2197	31.0	33.0	32.0		1332,1329,1332	4.0	1.0	16		32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,	444/1031,443/1030,444/1022	56913136	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56913136C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1332C>T	16.37:g.56913136C>T						SLC12A3_ENST00000563236.1_Silent_p.Y444Y|SLC12A3_ENST00000262502.5_Silent_p.Y443Y|SLC12A3_ENST00000566786.1_Silent_p.Y443Y	p.Y444Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			10	1361	+			444					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1332C>T	CCDS58464.1																																																																																				0.627	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			9	24	0	0	0	1	0	9	24				
WDR27	253769	broad.mit.edu	37	6	170064353	170064353	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170064353G>A	ENST00000448612.1	-	8	922	c.813C>T	c.(811-813)caC>caT	p.H271H	WDR27_ENST00000333572.6_Silent_p.H271H|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000423258.1_Silent_p.H144H	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	241						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GACGATAATGGTGTCCATCCA	0.522																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(811-813)caC>caT		WD repeat domain 27							130.0	130.0	130.0					6																	170064353		2088	4210	6298	SO:0001819	synonymous_variant	253769							g.chr6:170064353G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.813C>T	6.37:g.170064353G>A						WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000423258.1_Silent_p.H144H|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.H271H	p.H271H			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	8	1332	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	241					A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	c.813C>T	CCDS47520.2																																																																																				0.522	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		11	22	0	0	0	1	0	11	22				
GALNT18	374378	broad.mit.edu	37	11	11642982	11642982	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11642982C>A	ENST00000227756.4	-	1	570	c.159G>T	c.(157-159)gaG>gaT	p.E53D	GALNT18_ENST00000526064.1_5'UTR	NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	53					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CTTTGTCTTCCTCCAGCTTCT	0.577																																						ENST00000227756.4																			0											c.(157-159)gaG>gaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							125.0	117.0	120.0					11																	11642982		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11642982C>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.159G>T	11.37:g.11642982C>A	ENSP00000227756:p.Glu53Asp					GALNT18_ENST00000526064.1_5'UTR	p.E53D	NM_198516.2	NP_940918.2					1	570	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.159G>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156365	0.38119	.	.	ENSG00000110328	ENST00000227756	T	0.56776	0.44	5.02	0.69	0.18039	.	0.760220	0.11909	N	0.517848	T	0.35248	0.0925	L	0.27053	0.805	0.38430	D	0.946406	B	0.17852	0.024	B	0.12837	0.008	T	0.18147	-1.0346	10	0.15952	T	0.53	.	10.3347	0.43844	0.0:0.5441:0.3798:0.0761	.	53	Q6P9A2	GLTL4_HUMAN	D	53	ENSP00000227756:E53D	ENSP00000227756:E53D	E	-	3	2	GALNTL4	11599558	0.891000	0.30450	1.000000	0.80357	0.998000	0.95712	-0.016000	0.12613	0.637000	0.30526	0.561000	0.74099	GAG		0.577	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		6	84	1	0	5.18039e-06	1	5.91835e-06	6	84				
NCOA3	8202	broad.mit.edu	37	20	46279728	46279728	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46279728G>T	ENST00000371998.3	+	20	3845	c.3654G>T	c.(3652-3654)caG>caT	p.Q1218H	NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1209H|NCOA3_ENST00000372004.3_Missense_Mutation_p.Q1214H|NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1144H			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1218	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTATTAGCAGGGTTTTCTTA	0.453																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3640-3642)caG>caT		nuclear receptor coactivator 3							84.0	94.0	90.0					20																	46279728		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279728G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3654G>T	20.37:g.46279728G>T	ENSP00000361066:p.Gln1218His					NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1144H|NCOA3_ENST00000371998.3_Missense_Mutation_p.Q1218H|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1209H	p.Q1214H	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3858	+			1218			Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.3642G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792540	0.70452	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.03035	4.07;4.27;4.35;4.08	6.17	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	M	0.82823	2.61	0.44711	D	0.997702	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.976;0.983;0.987;0.976	T	0.00005	-1.2528	10	0.72032	D	0.01	-11.3231	11.7244	0.51702	0.1398:0.0:0.8602:0.0	.	1218;1209;1214;1218	A8K0W8;Q9Y6Q9-3;Q9Y6Q9-5;Q9Y6Q9	.;.;.;NCOA3_HUMAN	H	1214;1144;1214;1218;1209	ENSP00000342123:Q1144H;ENSP00000361073:Q1214H;ENSP00000361066:Q1218H;ENSP00000361065:Q1209H	ENSP00000345671:Q1214H	Q	+	3	2	NCOA3	45713135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.878000	0.28126	2.941000	0.99782	0.655000	0.94253	CAG		0.453	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	90	1	0	0.014758	1	0.0152625	5	90				
SLC7A1	6541	broad.mit.edu	37	13	30097549	30097549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30097549G>A	ENST00000380752.5	-	7	1289	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	301					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACACCCCAAAGTAGGCGATGA	0.597																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(901-903)taC>taT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						100.0	83.0	89.0					13																	30097549		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30097549G>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.903C>T	13.37:g.30097549G>A							p.Y301Y	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	7	1289	-		Lung SC(185;0.0257)|Breast(139;0.238)	301					Q5JR50	Silent	SNP	ENST00000380752.5	37	c.903C>T	CCDS9333.1																																																																																				0.597	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		24	26	0	0	0	1	0	24	26				
DMXL2	23312	broad.mit.edu	37	15	51772245	51772245	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51772245A>G	ENST00000251076.5	-	25	6943	c.6656T>C	c.(6655-6657)aTa>aCa	p.I2219T	DMXL2_ENST00000449909.3_Missense_Mutation_p.I1583T|DMXL2_ENST00000543779.2_Missense_Mutation_p.I2219T|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2219						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGATTAGCTATGACTGTTTT	0.408																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6655-6657)aTa>aCa		Dmx-like 2							201.0	194.0	196.0					15																	51772245		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772245A>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6656T>C	15.37:g.51772245A>G	ENSP00000251076:p.Ile2219Thr					DMXL2_ENST00000449909.3_Missense_Mutation_p.I1583T|DMXL2_ENST00000543779.2_Missense_Mutation_p.I2219T|RP11-707P17.1_ENST00000561007.1_RNA	p.I2219T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	25	6943	-			2219					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6656T>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.180943	0.78677	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.28666	1.73;1.74;1.6	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.40543	1.245	0.80722	D	1	D;D;D;B	0.63880	0.99;0.973;0.993;0.435	P;D;D;B	0.72338	0.843;0.921;0.977;0.109	T	0.46978	-0.9152	10	0.87932	D	0	.	16.1277	0.81406	1.0:0.0:0.0:0.0	.	2219;1583;2219;2219	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2219;2219;1583	ENSP00000251076:I2219T;ENSP00000441858:I2219T;ENSP00000400855:I1583T	ENSP00000251076:I2219T	I	-	2	0	DMXL2	49559537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.273000	0.75805	0.482000	0.46254	ATA		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		20	98	0	0	0	1	0	20	98				
DROSHA	29102	broad.mit.edu	37	5	31511180	31511180	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31511180G>A	ENST00000511367.2	-	8	1638	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L	DROSHA_ENST00000513349.1_Missense_Mutation_p.P428L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P465L|DROSHA_ENST00000442743.1_Missense_Mutation_p.P428L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	465					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGTTCCCACGGAGGCCGAGC	0.473																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1393-1395)cCg>cTg		drosha, ribonuclease type III							130.0	124.0	126.0					5																	31511180		1978	4172	6150	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31511180G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1394C>T	5.37:g.31511180G>A	ENSP00000425979:p.Pro465Leu					DROSHA_ENST00000513349.1_Missense_Mutation_p.P428L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P465L|DROSHA_ENST00000442743.1_Missense_Mutation_p.P428L	p.P465L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			8	1638	-			465					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1394C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228673	0.58777	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.44881	1.54;1.54;0.91;0.91	6.16	6.16	0.99307	.	0.157314	0.56097	D	0.000027	T	0.39911	0.1096	L	0.43923	1.385	0.51233	D	0.999917	B;B;B	0.27264	0.055;0.032;0.173	B;B;B	0.18561	0.019;0.008;0.022	T	0.07751	-1.0756	10	0.35671	T	0.21	-15.9154	20.8598	0.99761	0.0:0.0:1.0:0.0	.	397;428;465	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	L	465;465;428;428;390;421	ENSP00000425979:P465L;ENSP00000339845:P465L;ENSP00000409335:P428L;ENSP00000424161:P428L	ENSP00000265075:P390L	P	-	2	0	DROSHA	31546937	1.000000	0.71417	0.945000	0.38365	0.962000	0.63368	4.866000	0.63005	2.937000	0.99478	0.650000	0.86243	CCG		0.473	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		28	43	0	0	0	1	0	28	43				
BACE2	25825	broad.mit.edu	37	21	42622809	42622809	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42622809G>A	ENST00000330333.6	+	7	1578	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.R372H|BACE2_ENST00000347667.5_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	372					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGGTCATTCCGTATCACAATC	0.468																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1114-1116)cGt>cAt		beta-site APP-cleaving enzyme 2							93.0	75.0	81.0					21																	42622809		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42622809G>A	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1115G>A	21.37:g.42622809G>A	ENSP00000332979:p.Arg372His					BACE2_ENST00000328735.6_Missense_Mutation_p.R372H|BACE2_ENST00000347667.4_Intron|BACE2_ENST00000466122.1_3'UTR	p.R372H	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			7	1578	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	372					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.1115G>A	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738604	0.69304	.	.	ENSG00000182240	ENST00000330333;ENST00000328735;ENST00000544566	T;T	0.57907	0.37;0.95	5.48	5.48	0.80851	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.968	T	0.74858	-0.3521	10	0.51188	T	0.08	.	18.3634	0.90383	0.0:0.0:1.0:0.0	.	372;372	Q9Y5Z0-3;Q9Y5Z0	.;BACE2_HUMAN	H	372;372;277	ENSP00000332979:R372H;ENSP00000333854:R372H	ENSP00000333854:R372H	R	+	2	0	BACE2	41544679	1.000000	0.71417	0.953000	0.39169	0.201000	0.24016	8.984000	0.93482	2.573000	0.86826	0.650000	0.86243	CGT		0.468	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			11	21	0	0	0	1	0	11	21				
CDH11	1009	broad.mit.edu	37	16	65026832	65026832	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65026832A>G	ENST00000268603.4	-	5	1244	c.629T>C	c.(628-630)gTg>gCg	p.V210A	CDH11_ENST00000394156.3_Missense_Mutation_p.V210A|CDH11_ENST00000566827.1_Missense_Mutation_p.V84A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTGCTTCCACCGAAAAATA	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(628-630)gTg>gCg		cadherin 11, type 2, OB-cadherin (osteoblast)							158.0	122.0	134.0					16																	65026832		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65026832A>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.629T>C	16.37:g.65026832A>G	ENSP00000268603:p.Val210Ala	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.V210A|CDH11_ENST00000566827.1_Missense_Mutation_p.V84A	p.V210A			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	5	1082	-		Ovarian(137;0.0973)	210			Cadherin 2.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.629T>C	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.013623	0.93404	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.68181	0.24;-0.31	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.062472	0.64402	D	0.000005	D	0.84705	0.5531	M	0.92923	3.36	0.80722	D	1	P;P	0.51240	0.916;0.943	P;P	0.60789	0.523;0.879	D	0.88221	0.2897	10	0.87932	D	0	.	15.7535	0.78005	1.0:0.0:0.0:0.0	.	210;210	P55287-2;P55287	.;CAD11_HUMAN	A	210;210;193	ENSP00000268603:V210A;ENSP00000377711:V210A	ENSP00000268603:V210A	V	-	2	0	CDH11	63584333	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.339000	0.96797	2.313000	0.78055	0.455000	0.32223	GTG		0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		6	58	0	0	0	1	0	6	58				
INPP5B	3633	broad.mit.edu	37	1	38355275	38355275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38355275G>A	ENST00000373026.1	-	8	991	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	INPP5B_ENST00000373027.1_Missense_Mutation_p.H87Y|INPP5B_ENST00000458109.2_Missense_Mutation_p.H14Y|INPP5B_ENST00000373023.2_Missense_Mutation_p.H331Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.H251Y|INPP5B_ENST00000467066.1_5'Flank			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	331					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTAGTAGATGTGATTTCACA	0.413																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(991-993)Cat>Tat		inositol polyphosphate-5-phosphatase, 75kDa							167.0	159.0	161.0					1																	38355275		1873	4105	5978	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38355275G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.991C>T	1.37:g.38355275G>A	ENSP00000362117:p.His331Tyr					INPP5B_ENST00000373027.1_Missense_Mutation_p.H87Y|INPP5B_ENST00000458109.2_Missense_Mutation_p.H14Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.H251Y|INPP5B_ENST00000373026.1_Missense_Mutation_p.H331Y	p.H331Y	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			9	1084	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	331					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.991C>T		.	.	.	.	.	.	.	.	.	.	G	6.234	0.411305	0.11812	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.72	1.7	0.24286	Endonuclease/exonuclease/phosphatase (1);	0.658862	0.16792	N	0.199354	D	0.89273	0.6668	L	0.53249	1.67	0.26650	N	0.972127	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.71889	-0.4456	10	0.02654	T	1	.	8.5105	0.33215	0.1295:0.3543:0.5162:0.0	.	331;251	P32019;P32019-2	I5P2_HUMAN;.	Y	87;331;331;331;251;14	ENSP00000362118:H87Y;ENSP00000362114:H331Y;ENSP00000362117:H331Y;ENSP00000362115:H251Y;ENSP00000397748:H14Y	ENSP00000362114:H331Y	H	-	1	0	INPP5B	38127862	1.000000	0.71417	0.175000	0.22980	0.989000	0.77384	2.066000	0.41452	0.063000	0.16370	0.561000	0.74099	CAT		0.413	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		43	87	0	0	0	1	0	43	87				
MAP3K15	389840	broad.mit.edu	37	X	19389497	19389497	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389497T>C	ENST00000338883.4	-	23	3259	c.3260A>G	c.(3259-3261)cAg>cGg	p.Q1087R	MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q522R|MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q919R|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1087							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGGTGAATCTGACTGATGGA	0.537																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3259-3261)cAg>cGg		mitogen-activated protein kinase kinase kinase 15							147.0	117.0	127.0					X																	19389497		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389497T>C	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3260A>G	X.37:g.19389497T>C	ENSP00000345629:p.Gln1087Arg					MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q919R|MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q522R|MAP3K15_ENST00000518578.1_5'UTR	p.Q1087R	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			23	3259	-	Hepatocellular(33;0.183)		1087					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3260A>G		.	.	.	.	.	.	.	.	.	.	T	18.60	3.658302	0.67586	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.74106	-0.77;-0.81;-0.76	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.985	D	0.86784	0.1981	10	0.40728	T	0.16	.	14.5808	0.68288	0.0:0.0:0.0:1.0	.	562;1087	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	R	1087;522;919	ENSP00000345629:Q1087R;ENSP00000352093:Q522R;ENSP00000428356:Q919R	ENSP00000345629:Q1087R	Q	-	2	0	MAP3K15	19299418	1.000000	0.71417	0.987000	0.45799	0.928000	0.56348	7.698000	0.84413	1.824000	0.53156	0.412000	0.27726	CAG		0.537	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		12	100	0	0	0	1	0	12	100				
OR5A1	219982	broad.mit.edu	37	11	59211585	59211585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59211585C>A	ENST00000302030.2	+	1	969	c.944C>A	c.(943-945)tCt>tAt	p.S315Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AAAGTGTTTTCTTAGGTCATG	0.443																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(943-945)tCt>tAt		olfactory receptor, family 5, subfamily A, member 1							125.0	128.0	127.0					11																	59211585		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211585C>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.944C>A	11.37:g.59211585C>A	ENSP00000303096:p.Ser315Tyr						p.S315Y	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	969	+			315					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.944C>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420355	0.25552	.	.	ENSG00000172320	ENST00000302030	T	0.00368	7.76	5.8	1.75	0.24633	.	0.793541	0.10971	N	0.613842	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	P	0.57371	0.819	T	0.56805	-0.7918	10	0.87932	D	0	0.0011	2.9326	0.05804	0.1452:0.557:0.1404:0.1573	.	315	Q8NGJ0	OR5A1_HUMAN	Y	315	ENSP00000303096:S315Y	ENSP00000303096:S315Y	S	+	2	0	OR5A1	58968161	0.028000	0.19301	0.007000	0.13788	0.296000	0.27459	1.580000	0.36547	0.068000	0.16574	-0.157000	0.13467	TCT		0.443	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		30	79	1	0	1.2476e-16	1	1.61147e-16	30	79				
PRPF40B	25766	broad.mit.edu	37	12	50036069	50036069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50036069C>T	ENST00000380281.1	+	19	1934	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C	PRPF40B_ENST00000261897.1_Missense_Mutation_p.R611C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R646C|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	624					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGGAGGCACGCAGGATGCG	0.637																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1831-1833)Cgc>Tgc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							105.0	97.0	100.0					12																	50036069		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036069C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1870C>T	12.37:g.50036069C>T	ENSP00000369634:p.Arg624Cys					FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R624C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R646C	p.R611C			Q6NWY9	PR40B_HUMAN			19	2382	+			624					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1831C>T		.	.	.	.	.	.	.	.	.	.	C	19.26	3.793988	0.70452	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.32988	1.49;1.43	4.59	4.59	0.56863	FF domain (1);	0.112516	0.37304	N	0.002158	T	0.60650	0.2285	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.992	T	0.68040	-0.5514	10	0.87932	D	0	-5.3742	16.7	0.85346	0.0:1.0:0.0:0.0	.	624;611;624	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	C	611;624	ENSP00000261897:R611C;ENSP00000369634:R624C	ENSP00000261897:R611C	R	+	1	0	PRPF40B	48322336	0.994000	0.37717	0.990000	0.47175	0.998000	0.95712	3.079000	0.50104	2.554000	0.86153	0.655000	0.94253	CGC		0.637	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		33	60	0	0	0	1	0	33	60				
IRGQ	126298	broad.mit.edu	37	19	44097491	44097491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097491C>T	ENST00000602269.1	-	2	744	c.559G>A	c.(559-561)Gag>Aag	p.E187K	IRGQ_ENST00000422989.1_Missense_Mutation_p.E187K|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	187										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCCAACACCTCGAAGCCATCC	0.637																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(559-561)Gag>Aag		immunity-related GTPase family, Q							35.0	36.0	36.0					19																	44097491		2200	4291	6491	SO:0001583	missense	126298						protein binding	g.chr19:44097491C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.559G>A	19.37:g.44097491C>T	ENSP00000472250:p.Glu187Lys					IRGQ_ENST00000602269.1_Missense_Mutation_p.E187K	p.E187K	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	714	-		Prostate(69;0.0199)	187					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.559G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704171	0.68615	.	.	ENSG00000167378	ENST00000422989	T	0.50548	0.74	5.14	5.14	0.70334	.	0.324845	0.29565	N	0.011799	T	0.61375	0.2342	L	0.57536	1.79	0.37058	D	0.897928	D	0.76494	0.999	D	0.63957	0.92	T	0.58498	-0.7626	10	0.21540	T	0.41	4.338	16.5046	0.84266	0.0:1.0:0.0:0.0	.	187	Q8WZA9	IRGQ_HUMAN	K	187	ENSP00000387535:E187K	ENSP00000387535:E187K	E	-	1	0	IRGQ	48789331	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	3.522000	0.53480	2.840000	0.97914	0.655000	0.94253	GAG		0.637	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		27	30	0	0	0	1	0	27	30				
ALS2CL	259173	broad.mit.edu	37	3	46718343	46718343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46718343C>T	ENST00000318962.4	-	17	2010	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E643K|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	643					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCTCACCTCTCGCAGGACAGG	0.672																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1927-1929)Gag>Aag		ALS2 C-terminal like							67.0	73.0	71.0					3																	46718343		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46718343C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1927G>A	3.37:g.46718343C>T	ENSP00000313670:p.Glu643Lys					ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E643K	p.E643K	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	17	2010	-			643					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1927G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150000	0.21371	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.55588	0.51;0.51	4.65	1.79	0.24919	.	0.439796	0.20168	N	0.097785	T	0.31857	0.0810	L	0.54323	1.7	0.32669	N	0.517016	P	0.41131	0.739	B	0.25614	0.062	T	0.45469	-0.9259	10	0.08381	T	0.77	.	6.1822	0.20478	0.0:0.6669:0.1544:0.1786	.	643	Q60I27	AL2CL_HUMAN	K	643	ENSP00000313670:E643K;ENSP00000413223:E643K	ENSP00000313670:E643K	E	-	1	0	ALS2CL	46693347	0.033000	0.19621	0.485000	0.27403	0.542000	0.35054	0.717000	0.25851	0.183000	0.20059	0.561000	0.74099	GAG		0.672	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		11	70	0	0	0	1	0	11	70				
TTBK1	84630	broad.mit.edu	37	6	43223591	43223591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43223591C>T	ENST00000259750.4	+	9	941	c.858C>T	c.(856-858)taC>taT	p.Y286Y	TTBK1_ENST00000304139.5_Silent_p.Y235Y	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCCCGACTACCAGGTGGGAG	0.617																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(856-858)taC>taT		tau tubulin kinase 1							131.0	102.0	112.0					6																	43223591		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43223591C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.858C>T	6.37:g.43223591C>T						TTBK1_ENST00000304139.5_Silent_p.Y235Y	p.Y286Y	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		9	941	+			286			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.858C>T	CCDS34455.1																																																																																				0.617	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			13	36	0	0	0	1	0	13	36				
ACO2	50	broad.mit.edu	37	22	41903923	41903923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41903923C>T	ENST00000216254.4	+	3	324	c.302C>T	c.(301-303)gCg>gTg	p.A101V	ACO2_ENST00000396512.3_Missense_Mutation_p.A101V	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	101					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ATGCAGGATGCGACGGCCCAG	0.602																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(301-303)gCg>gTg		aconitase 2, mitochondrial							48.0	44.0	46.0					22																	41903923		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41903923C>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.302C>T	22.37:g.41903923C>T	ENSP00000216254:p.Ala101Val					ACO2_ENST00000216254.4_Missense_Mutation_p.A101V	p.A101V			Q99798	ACON_HUMAN			3	319	+			101					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.302C>T	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280598	0.95489	.	.	ENSG00000100412	ENST00000216254;ENST00000396512	T;T	0.38722	1.12;1.12	4.66	4.66	0.58398	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.83384	2.64	0.80722	D	1	D;D	0.63880	0.985;0.993	P;P	0.55785	0.784;0.761	T	0.70644	-0.4815	10	0.62326	D	0.03	.	17.9056	0.88917	0.0:1.0:0.0:0.0	.	101;101	A2A274;Q99798	.;ACON_HUMAN	V	101	ENSP00000216254:A101V;ENSP00000379769:A101V	ENSP00000216254:A101V	A	+	2	0	ACO2	40233869	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.731000	0.68554	2.290000	0.77057	0.491000	0.48974	GCG		0.602	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		6	23	0	0	0	1	0	6	23				
KIR2DL3	3804	broad.mit.edu	37	19	55250031	55250031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55250031C>A	ENST00000342376.3	+	1	52	c.21C>A	c.(19-21)agC>agA	p.S7R	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S7R|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	7					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGGTCGTCAGCATGGTGTGTG	0.612											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(19-21)agC>agA		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							116.0	132.0	127.0					19																	55250031		2001	3957	5958	SO:0001583	missense	3804							g.chr19:55250031C>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.21C>A	19.37:g.55250031C>A	ENSP00000342215:p.Ser7Arg		OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1006	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S7R|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	p.S7R	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	1	52	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.21C>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347424	0.24426	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00478	7.14;7.13	0.109	0.109	0.14578	.	.	.	.	.	T	0.01189	0.0039	M	0.86028	2.79	0.09310	N	1	P;D;P	0.71674	0.954;0.998;0.91	P;D;B	0.65010	0.649;0.931;0.439	T	0.42050	-0.9474	8	0.87932	D	0	.	.	.	.	.	7;7;7	E3NZD7;P43628-2;P43628	.;.;KI2L3_HUMAN	R	7	ENSP00000342215:S7R;ENSP00000415758:S7R	ENSP00000342215:S7R	S	+	3	2	KIR2DL3	59941843	0.000000	0.05858	0.035000	0.18076	0.035000	0.12851	-0.102000	0.10956	0.181000	0.19994	0.184000	0.17185	AGC		0.612	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			21	8	1	0	4.7796e-09	1	5.77107e-09	21	8				
CACUL1	143384	broad.mit.edu	37	10	120454656	120454656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120454656G>A	ENST00000369151.3	-	6	1366	c.883C>T	c.(883-885)Cca>Tca	p.P295S	CACUL1_ENST00000340214.4_Missense_Mutation_p.P295S|CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	295					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										TGTTTACCTGGTCTGAGGGTA	0.403																																						ENST00000369151.3																			0											c.(883-885)Cca>Tca		CDK2-associated, cullin domain 1							158.0	150.0	152.0					10																	120454656		1868	4116	5984	SO:0001583	missense	143384							g.chr10:120454656G>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.883C>T	10.37:g.120454656G>A	ENSP00000358147:p.Pro295Ser					CACUL1_ENST00000340214.4_Missense_Mutation_p.P295S|CACUL1_ENST00000544392.1_5'UTR	p.P295S	NM_153810.4	NP_722517.3					6	1366	-								Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	ENST00000369151.3	37	c.883C>T	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063234	0.76187	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151;ENST00000340214	.	.	.	5.73	5.73	0.89815	.	0.053978	0.85682	D	0.000000	T	0.64821	0.2633	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67910	-0.5548	9	0.59425	D	0.04	.	18.0748	0.89424	0.0:0.0:1.0:0.0	.	295	Q86Y37	CJ046_HUMAN	S	106;172;295;295	.	ENSP00000342487:P295S	P	-	1	0	C10orf46	120444646	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.426000	0.97469	2.708000	0.92522	0.650000	0.86243	CCA		0.403	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		7	100	0	0	0	1	0	7	100				
NUP214	8021	broad.mit.edu	37	9	134074037	134074037	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134074037G>A	ENST00000359428.5	+	29	5300	c.5156G>A	c.(5155-5157)gGg>gAg	p.G1719E	NUP214_ENST00000451030.1_Missense_Mutation_p.G1720E|NUP214_ENST00000483497.2_Missense_Mutation_p.G545E|NUP214_ENST00000411637.2_Missense_Mutation_p.G1709E			P35658	NU214_HUMAN	nucleoporin 214kDa	1719	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACAGCCCCAGGGGTCTTTGGA	0.587			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5155-5157)gGg>gAg		nucleoporin 214kDa							59.0	62.0	61.0					9																	134074037		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134074037G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5156G>A	9.37:g.134074037G>A	ENSP00000352400:p.Gly1719Glu					NUP214_ENST00000451030.1_Missense_Mutation_p.G1720E|NUP214_ENST00000483497.2_Missense_Mutation_p.G545E|NUP214_ENST00000411637.2_Missense_Mutation_p.G1709E	p.G1719E			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	5300	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1719			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.5156G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661035	0.67700	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.44881	1.02;0.91;0.91;0.91	5.57	2.62	0.31277	.	0.158061	0.29660	N	0.011526	T	0.41419	0.1158	N	0.08118	0	0.33815	D	0.628361	D;D;D;D;D	0.76494	0.992;0.992;0.992;0.992;0.999	P;P;P;D;D	0.74023	0.9;0.9;0.9;0.925;0.982	T	0.51490	-0.8699	10	0.22109	T	0.4	-3.4072	15.6217	0.76810	0.0:0.3905:0.6094:0.0	.	545;1148;1313;1709;1719	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	E	1719;1709;1720;1698;1313;1148;545	ENSP00000352400:G1719E;ENSP00000396576:G1709E;ENSP00000405014:G1720E;ENSP00000436793:G545E	ENSP00000352400:G1719E	G	+	2	0	NUP214	133063858	0.925000	0.31364	0.577000	0.28562	0.935000	0.57460	1.877000	0.39598	0.268000	0.21939	0.462000	0.41574	GGG		0.587	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		14	38	0	0	0	1	0	14	38				
HARBI1	283254	broad.mit.edu	37	11	46637525	46637525	+	Missense_Mutation	SNP	C	C	T	rs553116745	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637525C>T	ENST00000326737.3	-	2	510	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000312040.4_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	88						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATCTCCCATCCGAGTCTGGAA	0.502													C|||	6	0.00119808	0.0	0.0	5008	,	,		21232	0.0		0.0	False		,,,				2504	0.0061					ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(262-264)cGg>cAg		harbinger transposase derived 1							108.0	107.0	107.0					11																	46637525		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637525C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.263G>A	11.37:g.46637525C>T	ENSP00000317743:p.Arg88Gln						p.R88Q	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			2	510	-			88					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.263G>A	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376776	0.42105	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.26	5.26	0.73747	.	0.213760	0.47093	D	0.000257	T	0.48804	0.1520	L	0.47716	1.5	0.43919	D	0.996561	P	0.40211	0.707	B	0.32980	0.156	T	0.47235	-0.9133	9	0.17369	T	0.5	-17.5685	18.8631	0.92281	0.0:1.0:0.0:0.0	.	88	Q96MB7	HARB1_HUMAN	Q	88	.	ENSP00000317743:R88Q	R	-	2	0	HARBI1	46594101	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	4.629000	0.61290	2.462000	0.83206	0.655000	0.94253	CGG		0.502	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		37	72	0	0	0	1	0	37	72				
SPTBN4	57731	broad.mit.edu	37	19	41040140	41040140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41040140C>T	ENST00000352632.3	+	20	4335	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000392025.1_Nonsense_Mutation_p.Q160*|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.Q93*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.Q1417*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1417					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCTGGTGCAGAGCTTTGC	0.612																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(4249-4251)Cag>Tag		spectrin, beta, non-erythrocytic 4							36.0	33.0	34.0					19																	41040140		2203	4300	6503	SO:0001587	stop_gained	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41040140C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4249C>T	19.37:g.41040140C>T	ENSP00000263373:p.Gln1417*					SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000392025.1_Nonsense_Mutation_p.Q160*|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.Q93*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.Q1417*	p.Q1417*			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		20	4335	+			1417					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Nonsense_Mutation	SNP	ENST00000352632.3	37	c.4249C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	38	6.775651	0.97829	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	.	.	.	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.316	0.87224	0.0:1.0:0.0:0.0	.	.	.	.	X	1417;1417;1417;160;93	.	ENSP00000340345:Q1417X	Q	+	1	0	SPTBN4	45731980	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.749000	0.68704	2.614000	0.88457	0.561000	0.74099	CAG		0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			15	16	0	0	0	1	0	15	16				
HIF1AN	55662	broad.mit.edu	37	10	102306288	102306288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102306288G>T	ENST00000299163.6	+	6	944	c.844G>T	c.(844-846)Gag>Tag	p.E282*		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	282	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCACATAGAGTCATTACT	0.488																																						ENST00000299163.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(844-846)Gag>Tag		hypoxia inducible factor 1, alpha subunit inhibitor							160.0	166.0	164.0					10																	102306288		2203	4300	6503	SO:0001587	stop_gained	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102306288G>T	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.844G>T	10.37:g.102306288G>T	ENSP00000299163:p.Glu282*						p.E282*	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	6	944	+		Colorectal(252;0.234)	282			Interaction with HIF1A.|Interaction with VHL.|JmjC.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Nonsense_Mutation	SNP	ENST00000299163.6	37	c.844G>T	CCDS7498.1	.	.	.	.	.	.	.	.	.	.	G	40	8.069654	0.98638	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	.	.	.	5.61	5.61	0.85477	.	0.108371	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-19.665	17.8161	0.88634	0.0:0.0:1.0:0.0	.	.	.	.	X	175;282;315	.	ENSP00000299163:E282X	E	+	1	0	HIF1AN	102296278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.841000	0.99482	2.646000	0.89796	0.561000	0.74099	GAG		0.488	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		9	123	1	0	0.000442599	1	0.00048047	9	123				
OBSCN	84033	broad.mit.edu	37	1	228503696	228503696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228503696G>T	ENST00000422127.1	+	50	13205	c.13161G>T	c.(13159-13161)gaG>gaT	p.E4387D	OBSCN_ENST00000284548.11_Missense_Mutation_p.E4387D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1506D|OBSCN_ENST00000570156.2_Missense_Mutation_p.E5344D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2021D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4387	Ig-like 45.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAACGCCGAGGTGGTCTTCT	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16030-16032)gaG>gaT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							31.0	37.0	35.0					1																	228503696		2119	4195	6314	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228503696G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13161G>T	1.37:g.228503696G>T	ENSP00000409493:p.Glu4387Asp					OBSCN_ENST00000366707.4_Missense_Mutation_p.E2021D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1506D|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4387D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4387D	p.E5344D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			61	16106	+		Prostate(94;0.0405)	4387			Ig-like 50.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.16032G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985545	0.74589	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	5.29	1.27	0.21489	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.18635	0.0447	M	0.66297	2.02	0.32292	N	0.566138	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.961	T	0.04621	-1.0938	10	0.49607	T	0.09	.	10.1971	0.43060	0.2637:0.0:0.7363:0.0	.	4387;4387	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	4387;4387;2021;1506	ENSP00000284548:E4387D;ENSP00000409493:E4387D;ENSP00000355668:E2021D;ENSP00000355670:E1506D	ENSP00000284548:E4387D	E	+	3	2	OBSCN	226570319	1.000000	0.71417	0.939000	0.37840	0.474000	0.32979	2.101000	0.41787	-0.014000	0.14175	0.462000	0.41574	GAG		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	5	1	0	3.59834e-05	1	4.01776e-05	6	5				
TRPC5	7224	broad.mit.edu	37	X	111195637	111195637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195637C>T	ENST00000262839.2	-	2	930	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	4					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTTGTAGTACAGTTGGGCCA	0.483																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(10-12)ctG>ctA		transient receptor potential cation channel, subfamily C, member 5							73.0	62.0	65.0					X																	111195637		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195637C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.12G>A	X.37:g.111195637C>T							p.L4L	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			2	930	-			4					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.12G>A	CCDS14561.1																																																																																				0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		7	51	0	0	0	1	0	7	51				
RPL10	6134	broad.mit.edu	37	X	153627702	153627702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627702C>T	ENST00000369817.2	+	4	623	c.47C>T	c.(46-48)cCg>cTg	p.P16L	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000424325.2_Missense_Mutation_p.P16L|SNORA70_ENST00000384436.1_RNA			P27635	RL10_HUMAN	ribosomal protein L10	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAACAAGCCGTACCCAAAG	0.552											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(46-48)cCg>cTg		ribosomal protein L10							124.0	124.0	124.0					X																	153627702		2203	4300	6503	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627702C>T	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.47C>T	X.37:g.153627702C>T	ENSP00000358832:p.Pro16Leu		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Missense_Mutation_p.P16L	p.P16L	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			3	235	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		16					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.47C>T	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342177	0.41498	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000458500	T;T;T	0.76709	-1.04;-1.04;-1.04	5.07	4.21	0.49690	Ribosomal protein L10e/L16 (2);	0.000000	0.64402	U	0.000001	D	0.87767	0.6260	H	0.99379	4.54	0.80722	D	1	P;B	0.37781	0.608;0.017	B;B	0.40534	0.332;0.024	D	0.88264	0.2925	10	0.56958	D	0.05	-7.8621	10.6282	0.45521	0.0:0.9035:0.0:0.0965	.	16;16	A6QRI9;P27635	.;RL10_HUMAN	L	16	ENSP00000358832:P16L;ENSP00000413436:P16L;ENSP00000341730:P16L	ENSP00000341730:P16L	P	+	2	0	RPL10	153280896	1.000000	0.71417	0.792000	0.32020	0.221000	0.24807	7.274000	0.78538	0.925000	0.37094	-0.190000	0.12839	CCG		0.552	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		49	62	0	0	0	1	0	49	62				
SYNJ2	8871	broad.mit.edu	37	6	158516690	158516690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516690A>G	ENST00000355585.4	+	27	3860	c.3785A>G	c.(3784-3786)cAt>cGt	p.H1262R	SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1217R|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H347R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1262	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACTGTCCATTTTACAATC	0.532																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3784-3786)cAt>cGt		synaptojanin 2							68.0	72.0	70.0					6																	158516690		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516690A>G	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3785A>G	6.37:g.158516690A>G	ENSP00000347792:p.His1262Arg					SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1217R|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H347R	p.H1262R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	3860	+			1262			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3785A>G	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	9.688	1.151092	0.21371	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92199	-2.98;-2.99;0.96	5.39	-3.02	0.05446	.	0.384790	0.25558	N	0.029841	T	0.76111	0.3942	L	0.53249	1.67	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.67814	-0.5573	10	0.15066	T	0.55	.	10.7883	0.46417	0.5475:0.0:0.4525:0.0	.	657;1262	B4DLC4;O15056	.;SYNJ2_HUMAN	R	1217;1262;347	ENSP00000356089:H1217R;ENSP00000347792:H1262R;ENSP00000356079:H347R	ENSP00000347792:H1262R	H	+	2	0	SYNJ2	158436678	0.003000	0.15002	0.011000	0.14972	0.822000	0.46500	0.107000	0.15375	-0.212000	0.10109	0.528000	0.53228	CAT		0.532	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			33	39	0	0	0	1	0	33	39				
DMD	1756	broad.mit.edu	37	X	31645873	31645873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31645873C>T	ENST00000357033.4	-	55	8340	c.8134G>A	c.(8134-8136)Gcc>Acc	p.A2712T	DMD_ENST00000474231.1_Missense_Mutation_p.A252T|DMD_ENST00000378707.3_Missense_Mutation_p.A252T|DMD_ENST00000541735.1_Missense_Mutation_p.A252T|DMD_ENST00000359836.1_Missense_Mutation_p.A252T|DMD_ENST00000378677.2_Missense_Mutation_p.A2708T|DMD_ENST00000343523.2_Missense_Mutation_p.A252T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2712					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGACATTGGCAGTTGTTTCA	0.473																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(8134-8136)Gcc>Acc		dystrophin							97.0	83.0	88.0					X																	31645873		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31645873C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8134G>A	X.37:g.31645873C>T	ENSP00000354923:p.Ala2712Thr					DMD_ENST00000474231.1_Missense_Mutation_p.A252T|DMD_ENST00000541735.1_Missense_Mutation_p.A252T|DMD_ENST00000378707.3_Missense_Mutation_p.A252T|DMD_ENST00000359836.1_Missense_Mutation_p.A252T|DMD_ENST00000343523.2_Missense_Mutation_p.A252T|DMD_ENST00000378677.2_Missense_Mutation_p.A2708T	p.A2712T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			55	8340	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2712					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8134G>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.417257|4.417257	0.83449|0.83449	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.52754|.	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.240961|.	0.20701|.	U|.	0.087280|.	T|T	0.72953|0.72953	0.3525|0.3525	L|L	0.57536|0.57536	1.79|1.79	0.43430|0.43430	D|D	0.995596|0.995596	D;D;D;D;D;B;B;B;B;B|.	0.71674|.	0.971;0.979;0.998;0.984;0.984;0.03;0.02;0.048;0.055;0.066|.	P;P;D;P;P;B;B;B;B;B|.	0.69307|.	0.675;0.828;0.963;0.87;0.87;0.028;0.134;0.134;0.052;0.031|.	T|T	0.69745|0.69745	-0.5062|-0.5062	10|5	0.49607|.	T|.	0.09|.	.|.	19.1018|19.1018	0.93276|0.93276	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2704;2712;2708;1371;1368;252;252;252;252;252|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.|.	T|Y	2704;1371;1368;408;2708;2712;252;252;2712;2589;252;252;252|440	ENSP00000350765:A408T;ENSP00000367948:A2708T;ENSP00000354923:A2712T;ENSP00000352894:A252T;ENSP00000340057:A252T;ENSP00000367979:A252T;ENSP00000444119:A252T;ENSP00000417123:A252T|.	ENSP00000340057:A252T|.	A|C	-|-	1|2	0|0	DMD|DMD	31555794|31555794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.147000|6.147000	0.71783|0.71783	2.461000|2.461000	0.83175|0.83175	0.508000|0.508000	0.49915|0.49915	GCC|TGC		0.473	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		10	28	0	0	0	1	0	10	28				
RUFY1	80230	broad.mit.edu	37	5	178996388	178996388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178996388G>A	ENST00000319449.4	+	5	802	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	RUFY1_ENST00000437570.2_Missense_Mutation_p.A156T|RUFY1_ENST00000393438.2_Missense_Mutation_p.A156T|RUFY1_ENST00000377001.2_Missense_Mutation_p.A264T	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	264	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCTCGATGCCAATCTCTG	0.443										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(790-792)Gcc>Acc		RUN and FYVE domain containing 1							268.0	237.0	247.0					5																	178996388		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178996388G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.790G>A	5.37:g.178996388G>A	ENSP00000325594:p.Ala264Thr	HNSCC(44;0.11)				RUFY1_ENST00000437570.2_Missense_Mutation_p.A156T|RUFY1_ENST00000393438.2_Missense_Mutation_p.A156T|RUFY1_ENST00000319449.4_Missense_Mutation_p.A264T	p.A264T			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	790	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	264			RUN.		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.790G>A	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.857561|5.857561	0.97030|0.97030	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000508609	T;T;T;T|.	0.29917|.	1.55;1.55;1.55;1.55|.	5.04|5.04	5.04|5.04	0.67666|0.67666	RUN (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77572|0.77572	0.4150|0.4150	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.62740|.	0.906|.	T|T	0.78061|0.78061	-0.2351|-0.2351	10|5	0.40728|.	T|.	0.16|.	-11.3353|-11.3353	18.7431|18.7431	0.91782|0.91782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	264|.	Q96T51|.	RUFY1_HUMAN|.	T|I	264;264;156;156|74	ENSP00000325594:A264T;ENSP00000366200:A264T;ENSP00000390025:A156T;ENSP00000377087:A156T|.	ENSP00000325594:A264T|.	A|M	+|+	1|3	0|0	RUFY1|RUFY1	178928994|178928994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.731000|9.731000	0.98807|0.98807	2.490000|2.490000	0.84030|0.84030	0.561000|0.561000	0.74099|0.74099	GCC|ATG		0.443	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		42	79	0	0	0	1	0	42	79				
SNX21	90203	broad.mit.edu	37	20	44463100	44463100	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44463100A>G	ENST00000491381.1	+	2	350	c.282A>G	c.(280-282)gaA>gaG	p.E94E	SNX21_ENST00000342644.5_Silent_p.E94E|SNX21_ENST00000372541.1_Silent_p.E85E|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372542.1_Silent_p.E85E|SNX21_ENST00000462307.1_Silent_p.E94E|TNNC2_ENST00000372557.1_5'Flank			Q969T3	SNX21_HUMAN	sorting nexin family member 21	94					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGTCAGGAGAAGACGCAGGCG	0.667																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(253-255)gaA>gaG		sorting nexin family member 21							23.0	31.0	28.0					20																	44463100		2198	4298	6496	SO:0001819	synonymous_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463100A>G	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.282A>G	20.37:g.44463100A>G						SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_Silent_p.E94E|SNX21_ENST00000372541.1_Silent_p.E85E|SNX21_ENST00000342644.5_Silent_p.E94E|SNX21_ENST00000491381.1_Silent_p.E94E	p.E85E			Q969T3	SNX21_HUMAN			1	567	+		Myeloproliferative disorder(115;0.0122)	94					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Silent	SNP	ENST00000491381.1	37	c.255A>G	CCDS13377.1																																																																																				0.667	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		5	11	0	0	0	1	0	5	11				
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(2512-2514)acG>acA		dynein, axonemal, heavy chain 5							101.0	109.0	107.0					5																	13891148		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13891148C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2514G>A	5.37:g.13891148C>T						CTB-51A17.1_ENST00000503244.1_RNA	p.T838T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			17	2618	-	Lung NSC(4;0.00476)		838			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2514G>A	CCDS3882.1																																																																																				0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		39	103	0	0	0	1	0	39	103				
PLEC	5339	broad.mit.edu	37	8	144994814	144994814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144994814C>T	ENST00000322810.4	-	32	9755	c.9586G>A	c.(9586-9588)Gaa>Aaa	p.E3196K	PLEC_ENST00000527096.1_Missense_Mutation_p.E3082K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3059K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3045K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3037K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3027K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3086K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3063K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3059K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3196	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGGGCTTCCAACAGGGCC	0.662																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9586-9588)Gaa>Aaa		plectin							23.0	28.0	26.0					8																	144994814		2067	4184	6251	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994814C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9586G>A	8.37:g.144994814C>T	ENSP00000323856:p.Glu3196Lys					PLEC_ENST00000354589.3_Missense_Mutation_p.E3059K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3059K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3037K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3045K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3063K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3082K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3086K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3027K	p.E3196K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9755	-			3196			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9586G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078641	0.36662	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	4.21	4.21	0.49690	.	0.000000	0.64402	U	0.000011	D	0.92195	0.7525	H	0.94808	3.585	0.80722	D	1	D;D;D;D;D;D;D;D	0.57257	0.974;0.974;0.974;0.979;0.974;0.974;0.974;0.974	P;P;P;P;P;P;P;P	0.58577	0.754;0.754;0.754;0.841;0.754;0.754;0.754;0.754	D	0.94644	0.7833	10	0.87932	D	0	.	15.7136	0.77649	0.0:1.0:0.0:0.0	.	3086;3045;3037;3196;3027;3059;3063;3059	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3059;3063;3059;3027;3196;3037;3045;3086;3082	ENSP00000344848:E3059K;ENSP00000350277:E3063K;ENSP00000346602:E3059K;ENSP00000381756:E3027K;ENSP00000323856:E3196K;ENSP00000347044:E3037K;ENSP00000348702:E3045K;ENSP00000388180:E3086K;ENSP00000434583:E3082K	ENSP00000323856:E3196K	E	-	1	0	PLEC	145066802	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	4.828000	0.62730	2.054000	0.61138	0.448000	0.29417	GAA		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	24	0	0	0	1	0	8	24				
B3GNT5	84002	broad.mit.edu	37	3	182988710	182988710	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182988710C>A	ENST00000326505.3	+	2	1654	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	375					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTGTAGGGCTGCGTTTATC	0.333																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(1123-1125)gCt>gAt		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							50.0	52.0	51.0					3																	182988710		2202	4300	6502	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988710C>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.1124C>A	3.37:g.182988710C>A	ENSP00000316173:p.Ala375Asp					B3GNT5_ENST00000465010.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.A375D	p.A375D	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1654	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		375					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.1124C>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602494	0.66445	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.46063	0.88;0.88;0.88	5.69	5.69	0.88448	.	0.229458	0.36409	N	0.002613	T	0.65004	0.2650	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66040	-0.6022	10	0.87932	D	0	.	19.8006	0.96506	0.0:1.0:0.0:0.0	.	375	Q9BYG0	B3GN5_HUMAN	D	375	ENSP00000316173:A375D;ENSP00000420778:A375D;ENSP00000417868:A375D	ENSP00000316173:A375D	A	+	2	0	B3GNT5	184471404	1.000000	0.71417	0.997000	0.53966	0.264000	0.26372	7.487000	0.81328	2.675000	0.91044	0.591000	0.81541	GCT		0.333	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		12	63	1	0	9.31168e-06	1	1.06029e-05	12	63				
VCAN	1462	broad.mit.edu	37	5	82835797	82835797	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82835797G>A	ENST00000265077.3	+	8	7540	c.6975G>A	c.(6973-6975)ggG>ggA	p.G2325G	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.G1338G|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2325	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGGTAGTGGGTCAGTAACCA	0.443																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(6973-6975)ggG>ggA		versican							110.0	104.0	106.0					5																	82835797		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835797G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6975G>A	5.37:g.82835797G>A						VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.G1338G	p.G2325G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7540	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2325			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.6975G>A	CCDS4060.1																																																																																				0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		37	56	0	0	0	1	0	37	56				
DDX46	9879	broad.mit.edu	37	5	134146948	134146948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134146948G>A	ENST00000354283.4	+	17	2321	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H	DDX46_ENST00000452510.2_Missense_Mutation_p.R729H			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	729	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATCAAGCTCGCTATGCTGGT	0.373																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2185-2187)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							109.0	102.0	104.0					5																	134146948		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134146948G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2186G>A	5.37:g.134146948G>A	ENSP00000346236:p.Arg729His					DDX46_ENST00000354283.4_Missense_Mutation_p.R729H	p.R729H	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		17	2344	+			729			Helicase C-terminal.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2186G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779875	0.70222	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.93019	-3.15;-3.15	5.05	4.17	0.49024	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90027	0.6886	L	0.42487	1.325	0.80722	D	1	P	0.43542	0.81	B	0.37833	0.259	D	0.90460	0.4445	10	0.87932	D	0	-6.2887	15.7243	0.77743	0.0:0.1372:0.8628:0.0	.	729	Q7L014	DDX46_HUMAN	H	729	ENSP00000416534:R729H;ENSP00000346236:R729H	ENSP00000346236:R729H	R	+	2	0	DDX46	134174847	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.919000	0.87513	1.239000	0.43787	0.491000	0.48974	CGC		0.373	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		4	65	0	0	0	1	0	4	65				
TAF1D	79101	broad.mit.edu	37	11	93470275	93470275	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93470275T>G	ENST00000448108.2	-	4	1240	c.590A>C	c.(589-591)aAa>aCa	p.K197T	TAF1D_ENST00000546088.1_5'Flank|SNORA40_ENST00000388090.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	197					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATCCAAAAATTTGTATCTACG	0.308																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(589-591)aAa>aCa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							80.0	76.0	77.0					11																	93470275		2200	4296	6496	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93470275T>G		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.590A>C	11.37:g.93470275T>G	ENSP00000410409:p.Lys197Thr						p.K197T	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			4	1240	-			197					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.590A>C	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820817	0.71028	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.74	3.35	0.38373	.	0.298098	0.33496	N	0.004860	T	0.67268	0.2875	M	0.61703	1.905	0.36608	D	0.875022	D	0.76494	0.999	D	0.65443	0.935	T	0.72297	-0.4335	9	0.72032	D	0.01	-19.4061	7.4438	0.27198	0.0:0.2536:0.0:0.7464	.	197	Q9H5J8	TAF1D_HUMAN	T	197	.	ENSP00000314971:K197T	K	-	2	0	TAF1D	93109923	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	1.226000	0.32563	0.930000	0.37217	0.528000	0.53228	AAA		0.308	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		11	14	0	0	0	1	0	11	14				
KCNK16	83795	broad.mit.edu	37	6	39284631	39284631	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39284631G>A	ENST00000373229.5	-	4	601	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000373227.4_Silent_p.G196G|KCNK16_ENST00000507712.1_Silent_p.G131G|KCNK16_ENST00000425054.2_Silent_p.G196G|KCNK16_ENST00000437525.2_Silent_p.G196G|KCNK17_ENST00000453413.2_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	196					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGAAGCTCCAGCCCTCCACAT	0.532																																						ENST00000425054.2																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(586-588)ggC>ggT		potassium channel, subfamily K, member 16							129.0	127.0	128.0					6																	39284631		2203	4300	6503	SO:0001819	synonymous_variant	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39284631G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.588C>T	6.37:g.39284631G>A						KCNK16_ENST00000373229.5_Silent_p.G196G|KCNK16_ENST00000373227.4_Silent_p.G196G|KCNK16_ENST00000437525.2_Silent_p.G196G|KCNK16_ENST00000507712.1_Silent_p.G131G	p.G196G	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN			4	587	-			196					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	c.588C>T	CCDS4843.1																																																																																				0.532	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		50	94	0	0	0	1	0	50	94				
ABCA10	10349	broad.mit.edu	37	17	67189381	67189381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67189381C>T	ENST00000269081.4	-	16	2559	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	550	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTCATCTAGCAGCAAAACCT	0.448																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1648-1650)ctG>ctA		ATP-binding cassette, sub-family A (ABC1), member 10							111.0	99.0	103.0					17																	67189381		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67189381C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1650G>A	17.37:g.67189381C>T						ABCA10_ENST00000416101.2_3'UTR	p.L550L	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			16	2559	-	Breast(10;6.95e-12)		550			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.1650G>A	CCDS11684.1																																																																																				0.448	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		21	37	0	0	0	1	0	21	37				
PRSS38	339501	broad.mit.edu	37	1	228004916	228004916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228004916G>T	ENST00000366757.3	+	3	342	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAGGGACAAGAATATCAAAA	0.582																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(316-318)aaG>aaT		protease, serine, 38							109.0	95.0	99.0					1																	228004916		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228004916G>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.318G>T	1.37:g.228004916G>T	ENSP00000355719:p.Lys106Asn						p.K106N	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			3	342	+			106			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.318G>T	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745485	0.30955	.	.	ENSG00000185888	ENST00000366757	D	0.89196	-2.48	4.23	2.33	0.28932	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.620019	0.14443	N	0.319247	T	0.81375	0.4809	N	0.10782	0.045	0.09310	N	1	D	0.55172	0.97	P	0.53450	0.726	T	0.70350	-0.4896	10	0.21014	T	0.42	.	6.0074	0.19554	0.1033:0.1916:0.7051:0.0	.	106	A1L453	PRS38_HUMAN	N	106	ENSP00000355719:K106N	ENSP00000355719:K106N	K	+	3	2	PRSS38	226071539	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.986000	0.29590	0.715000	0.32103	-0.150000	0.13652	AAG		0.582	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		27	52	1	0	4.40665e-25	1	5.85472e-25	27	52				
TTN	7273	broad.mit.edu	37	2	179478634	179478634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179478634G>T	ENST00000591111.1	-	213	44677	c.44453C>A	c.(44452-44454)cCt>cAt	p.P14818H	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7394H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7519H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13891H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P16459H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7586H|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14818	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATCAGAAGGTTCTAGGCG	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49375-49377)cCt>cAt		titin							164.0	157.0	159.0					2																	179478634		1951	4157	6108	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478634G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44453C>A	2.37:g.179478634G>T	ENSP00000465570:p.Pro14818His					TTN_ENST00000460472.2_Missense_Mutation_p.P7394H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13891H|TTN_ENST00000359218.5_Missense_Mutation_p.P7519H|TTN_ENST00000342175.6_Missense_Mutation_p.P7586H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14818H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.P16459H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	49600	-			14818			Fibronectin type-III 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49376C>A		.	.	.	.	.	.	.	.	.	.	G	13.66	2.304380	0.40795	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69468	0.3114	L	0.47716	1.5	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	T	0.68911	-0.5284	9	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	7394;7519;7586;14818	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13891;7394;7586;7519;7394	ENSP00000343764:P13891H;ENSP00000434586:P7394H;ENSP00000340554:P7586H;ENSP00000352154:P7519H	ENSP00000340554:P7586H	P	-	2	0	TTN	179186879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.885000	0.99019	0.655000	0.94253	CCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	73	1	0	1.61004e-24	1	2.13591e-24	43	73				
NDUFV1	4723	broad.mit.edu	37	11	67377969	67377969	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67377969A>G	ENST00000322776.6	+	5	781	c.628A>G	c.(628-630)Aca>Gca	p.T210A	NDUFV1_ENST00000529927.1_Missense_Mutation_p.T201A|NDUFV1_ENST00000532303.1_Missense_Mutation_p.T109A|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000415352.2_Missense_Mutation_p.T203A|DOC2GP_ENST00000495263.1_RNA	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	210					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						TGGAGAGGAGACAGCGCTCAT	0.602																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(628-630)Aca>Gca		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						129.0	112.0	117.0					11																	67377969		2200	4294	6494	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67377969A>G	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.628A>G	11.37:g.67377969A>G	ENSP00000322450:p.Thr210Ala					NDUFV1_ENST00000532303.1_Missense_Mutation_p.T109A|NDUFV1_ENST00000415352.2_Missense_Mutation_p.T203A|NDUFV1_ENST00000529927.1_Missense_Mutation_p.T201A|NDUFV1_ENST00000526169.1_3'UTR	p.T210A	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			5	781	+			210					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.628A>G	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574670	0.86542	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000415352	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.42	4.42	0.53409	NADH:ubiquinone oxidoreductase, 51kDa subunit, conserved site (1);NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.000000	0.85682	D	0.000000	D	0.97328	0.9126	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	0.97;0.992;0.982;1.0	P;P;P;D	0.91635	0.85;0.858;0.858;0.999	D	0.98162	1.0447	10	0.87932	D	0	-17.2211	12.6342	0.56675	1.0:0.0:0.0:0.0	.	109;203;201;210	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	A	210;109;109;201;203	ENSP00000322450:T210A;ENSP00000432015:T109A;ENSP00000435202:T109A;ENSP00000436766:T201A;ENSP00000395368:T203A	ENSP00000322450:T210A	T	+	1	0	NDUFV1	67134545	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	8.995000	0.93534	1.853000	0.53794	0.459000	0.35465	ACA		0.602	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		31	56	0	0	0	1	0	31	56				
CRTC3	64784	broad.mit.edu	37	15	91145602	91145602	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91145602A>C	ENST00000268184.6	+	4	402	c.398A>C	c.(397-399)gAt>gCt	p.D133A	CRTC3_ENST00000420329.2_Missense_Mutation_p.D133A|CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000558619.1_3'UTR			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	133					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCCTCTGGATGAGAGTTGG	0.318			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(397-399)gAt>gCt		CREB regulated transcription coactivator 3							71.0	69.0	70.0					15																	91145602		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91145602A>C		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.398A>C	15.37:g.91145602A>C	ENSP00000268184:p.Asp133Ala					CRTC3_ENST00000268184.6_Missense_Mutation_p.D133A|CRTC3_ENST00000558619.1_3'UTR	p.D133A	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		4	545	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		133					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.398A>C	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089154	0.76756	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.18960	2.18;2.21	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.60455	1.87	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.21245	-1.0251	10	0.54805	T	0.06	-19.87	11.9008	0.52682	1.0:0.0:0.0:0.0	.	133;133	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	A	97;133;133	ENSP00000268184:D133A;ENSP00000416573:D133A	ENSP00000268184:D133A	D	+	2	0	CRTC3	88946606	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.168000	0.58216	2.065000	0.61736	0.533000	0.62120	GAT		0.318	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		3	43	0	0	0	1	0	3	43				
NFIX	4784	broad.mit.edu	37	19	13184823	13184823	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184823C>A	ENST00000592199.1	+	5	801	c.801C>A	c.(799-801)acC>acA	p.T267T	AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000358552.3_Silent_p.T266T|NFIX_ENST00000588228.1_Silent_p.T220T|NFIX_ENST00000397661.2_Silent_p.T267T|NFIX_ENST00000587760.1_Silent_p.T259T|NFIX_ENST00000585575.1_Silent_p.T259T|NFIX_ENST00000587260.1_Silent_p.T266T|NFIX_ENST00000360105.4_Silent_p.T270T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	267					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGTCCATCACCTCCCCTCCTT	0.622																																						ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(796-798)acC>acA		nuclear factor I/X (CCAAT-binding transcription factor)							79.0	90.0	87.0					19																	13184823		2041	4184	6225	SO:0001819	synonymous_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13184823C>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.801C>A	19.37:g.13184823C>A						NFIX_ENST00000397661.2_Silent_p.T267T|NFIX_ENST00000587260.1_Silent_p.T266T|NFIX_ENST00000360105.4_Silent_p.T270T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000588228.1_Silent_p.T220T|NFIX_ENST00000592199.1_Silent_p.T267T|NFIX_ENST00000587760.1_Silent_p.T259T|NFIX_ENST00000585575.1_Silent_p.T259T	p.T266T			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		4	798	+			267					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37	c.798C>A																																																																																					0.622	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		14	51	1	0	1.49906e-05	1	1.69169e-05	14	51				
MIR96	407053	broad.mit.edu	37	7	129414770	129414770	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129414770A>G	ENST00000362288.1	-	0	0				MIR183_ENST00000384958.1_RNA	NR_029512.1				microRNA 96																		TGCTCTGTTTATGGCCCTTCG	0.562																																						ENST00000384958.1																			0																				97.0	99.0	99.0					7																	129414770		1568	3582	5150			0							g.chr7:129414770A>G			7q32.2	2011-09-12		2008-12-18	ENSG00000199158	ENSG00000199158		"""ncRNAs / Micro RNAs"""	31648	non-coding RNA	RNA, micro		611606	"""deafness, autosomal dominant 50"""	MIRN96, DFNA50		14757864, 19363479	Standard	NR_029512		Approved	hsa-mir-96	uc003vpc.3				7.37:g.129414770A>G								NR_029615.1						0	84	-									RNA	SNP	ENST00000362288.1	37																																																																																						0.562	MIR96-201	KNOWN	basic	miRNA	miRNA		NR_029512		13	11	0	0	0	1	0	13	11				
CEMIP	57214	broad.mit.edu	37	15	81234672	81234672	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234672C>T	ENST00000394685.3	+	27	4112	c.3693C>T	c.(3691-3693)taC>taT	p.Y1231Y	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.Y1231Y|KIAA1199_ENST00000220244.3_Silent_p.Y1231Y			Q8WUJ3	CEMIP_HUMAN		1231					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTTCGCTTACATTGAAGTAA	0.493																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3691-3693)taC>taT		KIAA1199							73.0	71.0	72.0					15																	81234672		2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81234672C>T																												ENST00000394685.3:c.3693C>T	15.37:g.81234672C>T						RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.Y1231Y|KIAA1199_ENST00000356249.5_Silent_p.Y1231Y	p.Y1231Y			Q8WUJ3	K1199_HUMAN			27	4112	+			1231					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.3693C>T	CCDS10315.1																																																																																				0.493	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			26	50	0	0	0	1	0	26	50				
LAMA5	3911	broad.mit.edu	37	20	60902974	60902974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60902974G>A	ENST00000252999.3	-	36	4811	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1582	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGCAGTGCCCGCCTCGTGACA	0.667																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4744-4746)gCg>gTg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						29.0	34.0	32.0					20																	60902974		2197	4290	6487	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60902974G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4745C>T	20.37:g.60902974G>A	ENSP00000252999:p.Ala1582Val						p.A1582V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		36	4811	-	Breast(26;1.57e-08)		1582			Laminin EGF-like 15.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4745C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338020	0.41398	.	.	ENSG00000130702	ENST00000252999	T	0.61627	0.09	4.62	4.62	0.57501	EGF-like, laminin (3);	0.113282	0.64402	D	0.000018	T	0.64371	0.2592	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.61907	-0.6966	10	0.33940	T	0.23	.	12.0461	0.53480	0.0:0.0:0.6969:0.3031	.	1582	O15230	LAMA5_HUMAN	V	1582	ENSP00000252999:A1582V	ENSP00000252999:A1582V	A	-	2	0	LAMA5	60336369	1.000000	0.71417	0.050000	0.19076	0.019000	0.09904	4.431000	0.59915	2.076000	0.62316	0.563000	0.77884	GCG		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		16	36	0	0	0	1	0	16	36				
PDE7B	27115	broad.mit.edu	37	6	136495026	136495026	+	Splice_Site	SNP	C	C	T	rs201822681		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136495026C>T	ENST00000308191.6	+	9	1106	c.803C>T	c.(802-804)aCa>aTa	p.T268I	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	268	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.T268I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	AAGGAAATGACGTAAGTGCTG	0.458																																						ENST00000308191.6																			1	Substitution - Missense(1)	p.T268I(1)	breast(1)	breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.e9+1		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						112.0	94.0	100.0					6																	136495026		2203	4300	6503	SO:0001630	splice_region_variant	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136495026C>T	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.803+1C>T	6.37:g.136495026C>T						RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	p.T268_splice	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	9	1106	+	Colorectal(23;0.24)		268			Catalytic (By similarity).		Q5W154	Splice_Site	SNP	ENST00000308191.6	37	c.803_splice	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009557	0.75046	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.76186	-1.0	5.48	4.61	0.57282	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.126247	0.53938	D	0.000047	T	0.59851	0.2224	N	0.04705	-0.18	0.54753	D	0.999983	D;D	0.67145	0.995;0.996	P;P	0.57468	0.772;0.821	T	0.73547	-0.3948	10	0.72032	D	0.01	.	15.7735	0.78190	0.0:0.7427:0.2573:0.0	.	320;268	A1E5M1;Q9NP56	.;PDE7B_HUMAN	I	268;404	ENSP00000310661:T268I	ENSP00000310661:T268I	T	+	2	0	PDE7B	136536719	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.369000	0.52365	1.433000	0.47394	0.563000	0.77884	ACA		0.458	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1		Missense_Mutation	22	36	0	0	0	1	0	22	36				
MYT1	4661	broad.mit.edu	37	20	62854707	62854707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854707C>T	ENST00000328439.1	+	16	2887	c.2523C>T	c.(2521-2523)gaC>gaT	p.D841D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.D868D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACTCTGCTGACCTCAAGTATG	0.547																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2602-2604)gaC>gaT		myelin transcription factor 1							206.0	208.0	208.0					20																	62854707		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854707C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2523C>T	20.37:g.62854707C>T						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.D841D	p.D868D			Q01538	MYT1_HUMAN			16	2968	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		841					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.2604C>T	CCDS13558.1																																																																																				0.547	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		85	117	0	0	0	1	0	85	117				
AIMP2	7965	broad.mit.edu	37	7	6054859	6054859	+	Missense_Mutation	SNP	T	T	C	rs150139402		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6054859T>C	ENST00000223029.3	+	2	337	c.218T>C	c.(217-219)gTt>gCt	p.V73A	SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000395236.2_Intron|AIMP2_ENST00000400479.2_5'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	73					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAAGCTGCAGTTGATGGCCTC	0.458																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(217-219)gTt>gCt		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2		T	ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	156.0	151.0	152.0		218	5.3	1.0	7	dbSNP_134	152	0,8600		0,0,4300	no	missense	AIMP2	NM_006303.3	64	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	73/321	6054859	1,13005	2203	4300	6503	SO:0001583	missense	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6054859T>C	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.218T>C	7.37:g.6054859T>C	ENSP00000223029:p.Val73Ala					AIMP2_ENST00000400479.2_5'UTR|AIMP2_ENST00000395236.2_Intron	p.V73A	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN			2	337	+			73					Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	c.218T>C	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.909963	0.92107	2.27E-4	0.0	ENSG00000106305	ENST00000223029	T	0.37058	1.22	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.80847	2.515	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.67654	-0.5615	10	0.72032	D	0.01	-22.8997	15.2155	0.73264	0.0:0.0:0.0:1.0	.	73	Q13155	AIMP2_HUMAN	A	73	ENSP00000223029:V73A	ENSP00000223029:V73A	V	+	2	0	AIMP2	6021385	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	7.240000	0.78192	1.990000	0.58119	0.528000	0.53228	GTT		0.458	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		9	122	0	0	0	1	0	9	122				
CYBRD1	79901	broad.mit.edu	37	2	172398115	172398115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398115C>T	ENST00000321348.4	+	2	412	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14S|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000375252.3_Intron	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CTACAGACTGCCGTGGACCTG	0.438																																						ENST00000321348.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						c.(214-216)Ccg>Tcg		cytochrome b reductase 1							148.0	138.0	141.0					2																	172398115		2203	4300	6503	SO:0001583	missense	79901				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr2:172398115C>T	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.214C>T	2.37:g.172398115C>T	ENSP00000319141:p.Pro72Ser					CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14S	p.P72S	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN			2	412	+			72			Cytochrome b561.		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	c.214C>T	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002448	0.93227	.	.	ENSG00000071967	ENST00000409484;ENST00000321348;ENST00000445146	T;T;T	0.39592	1.07;1.07;1.07	5.38	5.38	0.77491	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63633	-0.6593	10	0.15066	T	0.55	-10.853	19.1378	0.93435	0.0:1.0:0.0:0.0	.	72	Q53TN4	CYBR1_HUMAN	S	14;72;33	ENSP00000386739:P14S;ENSP00000319141:P72S;ENSP00000402242:P33S	ENSP00000319141:P72S	P	+	1	0	CYBRD1	172106361	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.757000	0.85209	2.521000	0.84997	0.650000	0.86243	CCG		0.438	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		19	49	0	0	0	1	0	19	49				
KIAA1024	23251	broad.mit.edu	37	15	79748643	79748643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79748643T>C	ENST00000305428.3	+	2	229	c.154T>C	c.(154-156)Tac>Cac	p.Y52H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	52						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTGCTCTTCTACACAGCTTG	0.468																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(154-156)Tac>Cac		KIAA1024							117.0	111.0	113.0					15																	79748643		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79748643T>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.154T>C	15.37:g.79748643T>C	ENSP00000307461:p.Tyr52His						p.Y52H	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	229	+			52					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.154T>C	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551968	0.45487	.	.	ENSG00000169330	ENST00000305428	T	0.34275	1.37	5.88	4.65	0.58169	.	0.184023	0.48767	N	0.000167	T	0.31765	0.0807	M	0.62723	1.935	0.45087	D	0.998106	P	0.35272	0.493	B	0.28991	0.097	T	0.06023	-1.0850	9	.	.	.	.	10.0351	0.42125	0.0:0.0966:0.0:0.9034	.	52	Q9UPX6	K1024_HUMAN	H	52	ENSP00000307461:Y52H	.	Y	+	1	0	KIAA1024	77535698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.865000	0.48412	0.914000	0.36822	0.482000	0.46254	TAC		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		23	46	0	0	0	1	0	23	46				
GPRIN3	285513	broad.mit.edu	37	4	90169635	90169635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90169635G>T	ENST00000609438.1	-	2	2145	c.1627C>A	c.(1627-1629)Cct>Act	p.P543T	GPRIN3_ENST00000333209.4_Missense_Mutation_p.P543T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	543										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACTACCTGAGGAGATGCAGGC	0.453																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1627-1629)Cct>Act		GPRIN family member 3							84.0	85.0	85.0					4																	90169635		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169635G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1627C>A	4.37:g.90169635G>T	ENSP00000476603:p.Pro543Thr						p.P543T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2145	-		Hepatocellular(203;0.114)	543					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1627C>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990363	0.35131	.	.	ENSG00000185477	ENST00000333209	T	0.10573	2.86	4.85	-0.0586	0.13796	.	0.000000	0.33691	N	0.004650	T	0.06234	0.0161	L	0.32530	0.975	0.09310	N	1	B	0.24368	0.102	B	0.23852	0.049	T	0.27331	-1.0077	10	0.56958	D	0.05	-5.4518	0.9755	0.01425	0.1758:0.2453:0.3284:0.2506	.	543	Q6ZVF9	GRIN3_HUMAN	T	543	ENSP00000328672:P543T	ENSP00000328672:P543T	P	-	1	0	GPRIN3	90388658	0.536000	0.26378	0.001000	0.08648	0.001000	0.01503	0.049000	0.14099	0.250000	0.21479	-0.165000	0.13383	CCT		0.453	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		4	53	1	0	0.00024832	1	0.0002712	4	53				
LRP1B	53353	broad.mit.edu	37	2	141298623	141298623	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141298623A>G	ENST00000389484.3	-	45	8403	c.7432T>C	c.(7432-7434)Ttg>Ctg	p.L2478L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2478	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L2478L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGGCACAAGTCATGGCAG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - coding silent(1)	p.L2478L(1)	large_intestine(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7432-7434)Ttg>Ctg		low density lipoprotein receptor-related protein 1B							125.0	117.0	120.0					2																	141298623		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141298623A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7432T>C	2.37:g.141298623A>G		TSP Lung(27;0.18)					p.L2478L	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	45	8403	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2478					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.7432T>C	CCDS2182.1																																																																																				0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	75	0	0	0	1	0	9	75				
TYRP1	7306	broad.mit.edu	37	9	12702354	12702354	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12702354G>A	ENST00000388918.5	+	5	1126	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	TYRP1_ENST00000381136.2_Missense_Mutation_p.V43I|TYRP1_ENST00000381137.2_Missense_Mutation_p.V43I|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	333					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACCACAGGATGTCGCTCAGTG	0.463									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(997-999)Gtc>Atc		tyrosinase-related protein 1							143.0	118.0	126.0					9																	12702354		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702354G>A	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.997G>A	9.37:g.12702354G>A	ENSP00000373570:p.Val333Ile					TYRP1_ENST00000381137.2_Missense_Mutation_p.V43I|TYRP1_ENST00000381136.2_Missense_Mutation_p.V43I|RP11-3L8.3_ENST00000417638.1_RNA	p.V333I	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1126	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	333					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.997G>A	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126396	0.77549	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98602	-5.02;-5.02;-5.02	5.97	4.14	0.48551	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.102089	0.64402	N	0.000002	D	0.97424	0.9157	M	0.78637	2.42	0.58432	D	0.999994	B	0.18741	0.03	B	0.30943	0.122	D	0.95580	0.8645	10	0.42905	T	0.14	-36.5678	12.4359	0.55598	0.1351:0.0:0.8649:0.0	.	333	P17643	TYRP1_HUMAN	I	43;333;43	ENSP00000370529:V43I;ENSP00000373570:V333I;ENSP00000370528:V43I	ENSP00000370528:V43I	V	+	1	0	TYRP1	12692354	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	2.749000	0.47492	0.861000	0.35504	0.650000	0.86243	GTC		0.463	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		17	30	0	0	0	1	0	17	30				
TENM4	26011	broad.mit.edu	37	11	78423726	78423726	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78423726T>C	ENST00000278550.7	-	26	4317	c.3855A>G	c.(3853-3855)acA>acG	p.T1285T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1285					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCATGGGGTCTGTGGCCAGGT	0.493																																						ENST00000278550.7																			0											c.(3853-3855)acA>acG		teneurin transmembrane protein 4							52.0	53.0	53.0					11																	78423726		1887	4105	5992	SO:0001819	synonymous_variant	26011							g.chr11:78423726T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3855A>G	11.37:g.78423726T>C							p.T1285T	NM_001098816.2	NP_001092286.2					26	4317	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.3855A>G	CCDS44688.1																																																																																				0.493	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	39	0	0	0	1	0	4	39				
SIGLEC11	114132	broad.mit.edu	37	19	50461747	50461747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50461747C>T	ENST00000447370.2	-	8	1534	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	482					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGAGAGGGGGCCGGGCTGGCC	0.706																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1444-1446)Gcc>Acc		sialic acid binding Ig-like lectin 11							10.0	12.0	11.0					19																	50461747		2180	4255	6435	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461747C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1444G>A	19.37:g.50461747C>T	ENSP00000412361:p.Ala482Thr					SIGLEC11_ENST00000426971.2_Intron	p.A482T	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	8	1534	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	482						Missense_Mutation	SNP	ENST00000447370.2	37	c.1444G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442599	0.25987	.	.	ENSG00000161640	ENST00000447370	D	0.86694	-2.16	2.86	1.62	0.23740	.	0.456124	0.20952	N	0.082723	D	0.89150	0.6633	L	0.55017	1.72	0.43279	D	0.995247	D	0.89917	1.0	D	0.83275	0.996	D	0.86520	0.1815	9	.	.	.	.	6.8914	0.24232	0.0:0.7084:0.2916:0.0	.	482	Q96RL6	SIG11_HUMAN	T	482	ENSP00000412361:A482T	.	A	-	1	0	SIGLEC11	55153559	0.053000	0.20554	0.271000	0.24616	0.016000	0.09150	-0.034000	0.12225	1.548000	0.49413	0.556000	0.70494	GCC		0.706	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		7	13	0	0	0	1	0	7	13				
ATP7A	538	broad.mit.edu	37	X	77244936	77244936	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77244936A>G	ENST00000341514.6	+	4	973	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.Y273C	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	273					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGTCCATCATATACCAATGAT	0.393																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(817-819)tAt>tGt		ATPase, Cu++ transporting, alpha polypeptide							158.0	139.0	146.0					X																	77244936		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77244936A>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.818A>G	X.37:g.77244936A>G	ENSP00000345728:p.Tyr273Cys					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.Y273C	p.Y273C	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	973	+			273					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.818A>G	CCDS35339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.746|0.746	-0.774702|-0.774702	0.02951|0.02951	.|.	.|.	ENSG00000165240|ENSG00000165240	ENST00000400860|ENST00000343533;ENST00000341514;ENST00000355691	.|D;D	.|0.96041	.|-3.88;-3.89	5.44|5.44	-0.141|-0.141	0.13452|0.13452	.|Heavy metal-associated domain, HMA (1);	.|1.597730	.|0.03653	.|N	.|0.241364	.|D	.|0.90219	.|0.6942	N|N	0.20807|0.20807	0.61|0.61	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.0;0.003	.|B;B	.|0.09377	.|0.001;0.004	.|T	.|0.79957	.|-0.1584	.|10	.|0.38643	.|T	.|0.18	.|-7.1775	6.8388|6.8388	0.23951|0.23951	0.6482:0.1262:0.2256:0.0|0.6482:0.1262:0.2256:0.0	.|.	.|273;283	.|Q04656;Q59HD1	.|ATP7A_HUMAN;.	.|C	-1|273;273;283	.|ENSP00000343026:Y273C;ENSP00000345728:Y273C	.|ENSP00000345728:Y273C	.|Y	+|+	.|2	.|0	ATP7A|ATP7A	77131592|77131592	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.264000|0.264000	0.26372|0.26372	0.609000|0.609000	0.24238|0.24238	-0.023000|-0.023000	0.13963|0.13963	0.478000|0.478000	0.44815|0.44815	.|TAT		0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		78	98	0	0	0	1	0	78	98				
HTR1F	3355	broad.mit.edu	37	3	88040645	88040645	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040645A>C	ENST00000319595.4	+	1	800	c.746A>C	c.(745-747)aAg>aCg	p.K249T		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	249					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTACTAGAAAAGTCTTTATCT	0.408																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(745-747)aAg>aCg		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						62.0	63.0	63.0					3																	88040645		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040645A>C	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.746A>C	3.37:g.88040645A>C	ENSP00000322924:p.Lys249Thr						p.K249T	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	800	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	249						Missense_Mutation	SNP	ENST00000319595.4	37	c.746A>C	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	A	4.355	0.065290	0.08388	.	.	ENSG00000179097	ENST00000319595	T	0.71698	-0.59	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.068015	0.56097	U	0.000038	T	0.60261	0.2255	L	0.27053	0.805	0.38423	D	0.946225	P	0.48998	0.918	P	0.46144	0.505	T	0.59380	-0.7465	10	0.13853	T	0.58	.	12.9313	0.58288	1.0:0.0:0.0:0.0	.	249	P30939	5HT1F_HUMAN	T	249	ENSP00000322924:K249T	ENSP00000322924:K249T	K	+	2	0	HTR1F	88123335	1.000000	0.71417	0.999000	0.59377	0.024000	0.10985	5.935000	0.70145	1.948000	0.56530	0.455000	0.32223	AAG		0.408	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		20	36	0	0	0	1	0	20	36				
MYBL1	4603	broad.mit.edu	37	8	67484760	67484760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67484760G>A	ENST00000522677.3	-	12	2095	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	MYBL1_ENST00000517885.1_Missense_Mutation_p.A220V|MYBL1_ENST00000524176.2_Missense_Mutation_p.A562V	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	562					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGCAGCAAGCGCATTCTTAAA	0.294																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1684-1686)gCg>gTg		v-myb avian myeloblastosis viral oncogene homolog-like 1							110.0	98.0	102.0					8																	67484760		1809	4073	5882	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67484760G>A	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1685C>T	8.37:g.67484760G>A	ENSP00000429633:p.Ala562Val					MYBL1_ENST00000517885.1_Missense_Mutation_p.A220V|MYBL1_ENST00000524176.2_Missense_Mutation_p.A562V	p.A562V	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		12	2095	-			562					E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.1685C>T	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321008	0.95682	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.51071	0.72;0.72;0.72	5.59	5.59	0.84812	C-myb, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	T	0.77159	-0.2690	10	0.56958	D	0.05	-10.9537	19.961	0.97250	0.0:0.0:1.0:0.0	.	562;561;562	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	V	562;220;562	ENSP00000429633:A562V;ENSP00000428265:A220V;ENSP00000428011:A562V	ENSP00000428265:A220V	A	-	2	0	MYBL1	67647314	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	8.519000	0.90563	2.783000	0.95769	0.655000	0.94253	GCG		0.294	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		11	11	0	0	0	1	0	11	11				
NOTCH1	4851	broad.mit.edu	37	9	139393669	139393669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393669G>A	ENST00000277541.6	-	32	6052	c.5977C>T	c.(5977-5979)Cat>Tat	p.H1993Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1993					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGCCATCATGCATGCGGGCA	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5977-5979)Cat>Tat		notch 1							59.0	63.0	62.0					9																	139393669		2202	4300	6502	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393669G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5977C>T	9.37:g.139393669G>A	ENSP00000277541:p.His1993Tyr	HNSCC(8;0.001)					p.H1993Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	32	6052	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1993					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5977C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290317	0.59976	.	.	ENSG00000148400	ENST00000277541	T	0.52057	0.68	5.07	5.07	0.68467	Ankyrin repeat-containing domain (3);	0.104840	0.64402	D	0.000004	T	0.34483	0.0899	N	0.11789	0.175	0.80722	D	1	P	0.43633	0.813	P	0.45681	0.49	T	0.11792	-1.0573	10	0.36615	T	0.2	.	11.3179	0.49403	0.0842:0.0:0.9158:0.0	.	1993	P46531	NOTC1_HUMAN	Y	1993	ENSP00000277541:H1993Y	ENSP00000277541:H1993Y	H	-	1	0	NOTCH1	138513490	1.000000	0.71417	0.996000	0.52242	0.370000	0.29829	6.097000	0.71452	2.512000	0.84698	0.561000	0.74099	CAT		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		17	35	0	0	0	1	0	17	35				
ZBTB40	9923	broad.mit.edu	37	1	22848034	22848034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22848034G>A	ENST00000375647.4	+	15	3301	c.3094G>A	c.(3094-3096)Gta>Ata	p.V1032I	ZBTB40_ENST00000374651.4_Missense_Mutation_p.V920I|ZBTB40-IT1_ENST00000438551.1_RNA|ZBTB40_ENST00000404138.1_Missense_Mutation_p.V1032I	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1032					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCACCCTGACGTATTTGCTGC	0.488																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(3094-3096)Gta>Ata		zinc finger and BTB domain containing 40							163.0	132.0	143.0					1																	22848034		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22848034G>A	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3094G>A	1.37:g.22848034G>A	ENSP00000364798:p.Val1032Ile					ZBTB40_ENST00000375647.4_Missense_Mutation_p.V1032I|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V920I	p.V1032I	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	16	3605	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1032					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.3094G>A	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369746	0.61624	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.08720	3.06;3.06;3.07	5.69	5.69	0.88448	.	0.000000	0.49916	D	0.000130	T	0.09423	0.0232	N	0.12182	0.205	0.41099	D	0.985654	D;D	0.63046	0.99;0.992	P;P	0.51918	0.556;0.684	T	0.12993	-1.0526	10	0.62326	D	0.03	-18.943	13.3997	0.60876	0.0:0.0:0.8427:0.1573	.	920;1032	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	I	1032;1032;920	ENSP00000384527:V1032I;ENSP00000364798:V1032I;ENSP00000363782:V920I	ENSP00000363782:V920I	V	+	1	0	ZBTB40	22720621	1.000000	0.71417	0.977000	0.42913	0.926000	0.56050	6.081000	0.71309	2.705000	0.92388	0.485000	0.47835	GTA		0.488	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		28	45	0	0	0	1	0	28	45				
ZC3H3	23144	broad.mit.edu	37	8	144621170	144621170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621170C>T	ENST00000262577.5	-	2	398	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	RP11-661A12.5_ENST00000530600.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	123					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGATGACCACGTTCTGACCC	0.617																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(367-369)Gtg>Atg		zinc finger CCCH-type containing 3							53.0	61.0	58.0					8																	144621170		2202	4297	6499	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144621170C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.367G>A	8.37:g.144621170C>T	ENSP00000262577:p.Val123Met						p.V123M	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	398	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		123					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.367G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035361	0.02029	.	.	ENSG00000014164	ENST00000262577	T	0.38560	1.13	4.85	2.32	0.28847	.	0.181276	0.39274	N	0.001411	T	0.10423	0.0255	N	0.00308	-1.67	0.21473	N	0.999677	B	0.09022	0.002	B	0.06405	0.002	T	0.29427	-1.0012	10	0.21540	T	0.41	-17.2568	6.9379	0.24476	0.0:0.2628:0.0:0.7372	.	123	Q8IXZ2	ZC3H3_HUMAN	M	123	ENSP00000262577:V123M	ENSP00000262577:V123M	V	-	1	0	ZC3H3	144692313	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	0.856000	0.27818	0.701000	0.31803	-0.459000	0.05422	GTG		0.617	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		33	50	0	0	0	1	0	33	50				
SYT10	341359	broad.mit.edu	37	12	33535302	33535302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33535302G>A	ENST00000228567.3	-	5	1648	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	SYT10_ENST00000535526.1_Missense_Mutation_p.A270V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	451	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCCATGACCGCAATGGAGAG	0.448																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1351-1353)gCg>gTg		synaptotagmin X							212.0	185.0	194.0					12																	33535302		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33535302G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1352C>T	12.37:g.33535302G>A	ENSP00000228567:p.Ala451Val					SYT10_ENST00000535526.1_Missense_Mutation_p.A270V	p.A451V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			5	1648	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		451			C2 2.		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1352C>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920621	0.73213	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.69175	-0.38;-0.38	3.97	3.97	0.46021	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.41097	U	0.000945	T	0.60157	0.2247	N	0.12663	0.25	0.39337	D	0.965516	D	0.58620	0.983	P	0.52514	0.701	T	0.69510	-0.5126	10	0.62326	D	0.03	.	16.3094	0.82863	0.0:0.0:1.0:0.0	.	451	Q6XYQ8	SYT10_HUMAN	V	451;270	ENSP00000228567:A451V;ENSP00000438691:A270V	ENSP00000228567:A451V	A	-	2	0	SYT10	33426569	1.000000	0.71417	0.683000	0.30040	0.920000	0.55202	4.712000	0.61888	2.515000	0.84797	0.585000	0.79938	GCG		0.448	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		28	36	0	0	0	1	0	28	36				
LRPPRC	10128	broad.mit.edu	37	2	44209388	44209388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44209388G>A	ENST00000260665.7	-	2	392	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRPPRC_ENST00000409946.1_Missense_Mutation_p.T112I|LRPPRC_ENST00000409659.1_Missense_Mutation_p.T112I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	112					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGCGGCAGGTATCATTAAA	0.428																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(334-336)aCc>aTc		leucine-rich pentatricopeptide repeat containing							46.0	50.0	49.0					2																	44209388		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44209388G>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.335C>T	2.37:g.44209388G>A	ENSP00000260665:p.Thr112Ile					LRPPRC_ENST00000409659.1_Missense_Mutation_p.T112I|LRPPRC_ENST00000409946.1_Missense_Mutation_p.T112I	p.T112I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			2	392	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	112					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.335C>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.272593	0.01421	.	.	ENSG00000138095	ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.61859	0.77;0.72;0.72;0.07	5.86	4.77	0.60923	.	0.214130	0.47455	D	0.000232	T	0.41305	0.1153	L	0.28556	0.865	0.40421	D	0.979843	B;B	0.14438	0.001;0.01	B;B	0.12156	0.001;0.007	T	0.31138	-0.9954	10	0.35671	T	0.21	-1.6558	7.197	0.25858	0.2585:0.0:0.7415:0.0	.	86;112	C9JCA9;P42704	.;LPPRC_HUMAN	I	112;112;112;86	ENSP00000260665:T112I;ENSP00000386234:T112I;ENSP00000386562:T112I;ENSP00000403637:T86I	ENSP00000260665:T112I	T	-	2	0	LRPPRC	44062892	1.000000	0.71417	0.315000	0.25238	0.040000	0.13550	4.073000	0.57570	2.937000	0.99478	0.650000	0.86243	ACC		0.428	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		30	38	0	0	0	1	0	30	38				
MTOR	2475	broad.mit.edu	37	1	11303331	11303331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11303331T>C	ENST00000361445.4	-	9	1328	c.1252A>G	c.(1252-1254)Aac>Gac	p.N418D		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	418	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGGACATGGTTCATGGTATCT	0.478																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(1252-1254)Aac>Gac		mechanistic target of rapamycin (serine/threonine kinase)							121.0	109.0	113.0					1																	11303331		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11303331T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1252A>G	1.37:g.11303331T>C	ENSP00000354558:p.Asn418Asp						p.N418D	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			9	1328	-			418					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.1252A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735505	0.49045	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64085	-0.08	6.11	6.11	0.99139	Armadillo-like helical (1);Armadillo-type fold (2);	0.156846	0.64402	D	0.000020	T	0.50292	0.1607	L	0.29908	0.895	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.46541	-0.9184	10	0.12103	T	0.63	-3.762	16.7021	0.85357	0.0:0.0:0.0:1.0	.	418	P42345	MTOR_HUMAN	D	418	ENSP00000354558:N418D	ENSP00000354558:N418D	N	-	1	0	MTOR	11225918	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.649000	0.67936	2.343000	0.79666	0.533000	0.62120	AAC		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		4	91	0	0	0	1	0	4	91				
RCHY1	25898	broad.mit.edu	37	4	76434492	76434492	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76434492G>A	ENST00000324439.5	-	2	503	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000451788.1_Silent_p.D35D|RCHY1_ENST00000513257.1_Silent_p.D35D|RCHY1_ENST00000512706.1_Silent_p.D13D|RCHY1_ENST00000514021.1_5'UTR	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	35					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)			TATAAAGCTTGTCACAGCAAG	0.373																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(103-105)gaC>gaT		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							55.0	50.0	52.0					4																	76434492		2203	4299	6502	SO:0001819	synonymous_variant	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.chr4:76434492G>A	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.105C>T	4.37:g.76434492G>A						RCHY1_ENST00000513257.1_Silent_p.D35D|RCHY1_ENST00000512706.1_Silent_p.D13D|RCHY1_ENST00000451788.1_Silent_p.D35D|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000514021.1_5'UTR	p.D35D	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)		2	503	-			35					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Silent	SNP	ENST00000324439.5	37	c.105C>T	CCDS3567.1																																																																																				0.373	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		5	13	0	0	0	1	0	5	13				
UCKL1	54963	broad.mit.edu	37	20	62577807	62577807	+	Splice_Site	SNP	G	G	A	rs201407701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62577807G>A	ENST00000354216.6	-	2	345	c.303C>T	c.(301-303)atC>atT	p.I101I	UCKL1_ENST00000369908.5_Splice_Site_p.I86I|UCKL1_ENST00000358711.3_Splice_Site_p.I101I|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Splice_Site_p.I101I	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	101					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCTCACCGATGGCGAAGG	0.677													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14384	0.0		0.0	False		,,,				2504	0.0					ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.e2+1		uridine-cytidine kinase 1-like 1							33.0	29.0	31.0					20																	62577807		2189	4293	6482	SO:0001630	splice_region_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577807G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.304+1C>T	20.37:g.62577807G>A						UCKL1_ENST00000354216.6_Splice_Site_p.I101_splice|UCKL1_ENST00000358711.3_Splice_Site_p.I101_splice|UCKL1_ENST00000369892.3_Splice_Site_p.I101_splice|UCKL1_ENST00000492660.1_5'UTR	p.I86_splice	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			2	557	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		101					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Splice_Site	SNP	ENST00000354216.6	37	c.259_splice	CCDS13547.1																																																																																				0.677	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859	Silent	5	10	0	0	0	1	0	5	10				
RASD2	23551	broad.mit.edu	37	22	35947819	35947819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35947819G>A	ENST00000216127.4	+	3	1183	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	181					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAACGTGGACGAGATGTTCTA	0.632																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(541-543)Gag>Aag		RASD family, member 2							113.0	81.0	92.0					22																	35947819		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947819G>A	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.541G>A	22.37:g.35947819G>A	ENSP00000216127:p.Glu181Lys						p.E181K	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1183	+			181					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.541G>A	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308848	0.60305	.	.	ENSG00000100302	ENST00000216127	T	0.73363	-0.74	5.72	5.72	0.89469	Small GTP-binding protein domain (1);	0.140991	0.64402	D	0.000004	T	0.67344	0.2883	L	0.45422	1.42	0.45216	D	0.998222	B	0.10296	0.003	B	0.13407	0.009	T	0.62348	-0.6873	10	0.42905	T	0.14	.	13.1237	0.59342	0.073:0.0:0.927:0.0	.	181	Q96D21	RHES_HUMAN	K	181	ENSP00000216127:E181K	ENSP00000216127:E181K	E	+	1	0	RASD2	34277765	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.593000	0.46180	2.709000	0.92574	0.561000	0.74099	GAG		0.632	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		15	12	0	0	0	1	0	15	12				
MYH9	4627	broad.mit.edu	37	22	36716362	36716362	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36716362A>G	ENST00000216181.5	-	9	1145	c.915T>C	c.(913-915)aaT>aaC	p.N305N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	305	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGACGTGTCCATTGGACAGGA	0.577			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(913-915)aaT>aaC		myosin, heavy chain 9, non-muscle							184.0	164.0	171.0					22																	36716362		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36716362A>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.915T>C	22.37:g.36716362A>G							p.N305N	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			9	1145	-			305			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.915T>C	CCDS13927.1																																																																																				0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	92	0	0	0	1	0	7	92				
BAGE2	85319	broad.mit.edu	37	21	11039266	11039266	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11039266C>T	ENST00000470054.1	-	0	937							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCAGTTGCTCTTGCTGCA	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039266C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039266C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	937	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		14	276	0	0	0	1	0	14	276				
VARS	7407	broad.mit.edu	37	6	31750347	31750347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750347G>A	ENST00000375663.3	-	16	2391	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	651					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAATGCCACGGAACAGTCCC	0.632																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1951-1953)Cgt>Tgt		valyl-tRNA synthetase	L-Valine(DB00161)						81.0	62.0	69.0					6																	31750347		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31750347G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1951C>T	6.37:g.31750347G>A	ENSP00000364815:p.Arg651Cys					VARS_ENST00000444930.2_3'UTR	p.R651C	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			16	2391	-			651					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1951C>T	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260707|3.260707	0.59431|0.59431	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000428445|ENST00000375663	.|T	.|0.35605	.|1.3	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	.|0.056823	.|0.64402	.|D	.|0.000001	T|T	0.58921|0.58921	0.2156|0.2156	M|M	0.93106|0.93106	3.38|3.38	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.70487	.|0.969	T|T	0.68224|0.68224	-0.5465|-0.5465	5|10	.|0.62326	.|D	.|0.03	-15.1041|-15.1041	11.1741|11.1741	0.48588|0.48588	0.0:0.0:0.8161:0.1838|0.0:0.0:0.8161:0.1838	.|.	.|651	.|P26640	.|SYVC_HUMAN	L|C	7|651	.|ENSP00000364815:R651C	.|ENSP00000364815:R651C	P|R	-|-	2|1	0|0	VARS|VARS	31858326|31858326	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.718000|0.718000	0.41266|0.41266	2.851000|2.851000	0.48302|0.48302	2.379000|2.379000	0.81126|0.81126	0.563000|0.563000	0.77884|0.77884	CCG|CGT		0.632	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		10	16	0	0	0	1	0	10	16				
AGO3	192669	broad.mit.edu	37	1	36474597	36474597	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36474597C>A	ENST00000373191.4	+	8	1330	c.981C>A	c.(979-981)ccC>ccA	p.P327P	RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Silent_p.P93P|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	327	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CGCACCTTCCCTGTCTGCAAG	0.453																																						ENST00000373191.4																			0											c.(979-981)ccC>ccA		argonaute RISC catalytic component 3							56.0	60.0	59.0					1																	36474597		2203	4300	6503	SO:0001819	synonymous_variant	192669							g.chr1:36474597C>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.981C>A	1.37:g.36474597C>A						RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Silent_p.P93P	p.P327P	NM_024852.3	NP_079128.2					8	1330	+								B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	c.981C>A	CCDS399.1																																																																																				0.453	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		12	24	1	0	4.36969e-10	1	5.35656e-10	12	24				
POLE	5426	broad.mit.edu	37	12	133219468	133219468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219468G>A	ENST00000320574.5	-	36	4709	c.4666C>T	c.(4666-4668)Cgg>Tgg	p.R1556W	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.R1529W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1556					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTCTGCCCGAACTTCGAAG	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4666-4668)Cgg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							112.0	108.0	109.0					12																	133219468		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219468G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4666C>T	12.37:g.133219468G>A	ENSP00000322570:p.Arg1556Trp					POLE_ENST00000535270.1_Missense_Mutation_p.R1529W	p.R1556W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	36	4709	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1556					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4666C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456459	0.84317	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.23348	1.91;1.91;1.91	5.82	5.82	0.92795	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	P	0.58970	0.849	T	0.40059	-0.9583	10	0.44086	T	0.13	.	20.1027	0.97880	0.0:0.0:1.0:0.0	.	1556	Q07864	DPOE1_HUMAN	W	1556;1567;1529	ENSP00000322570:R1556W;ENSP00000406383:R1567W;ENSP00000445753:R1529W	ENSP00000322570:R1556W	R	-	1	2	POLE	131729541	1.000000	0.71417	0.953000	0.39169	0.934000	0.57294	7.813000	0.86123	2.756000	0.94617	0.655000	0.94253	CGG		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		35	63	0	0	0	1	0	35	63				
FAM117B	150864	broad.mit.edu	37	2	203589718	203589718	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203589718G>T	ENST00000392238.2	+	3	832	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	FAM117B_ENST00000303116.6_Missense_Mutation_p.D34Y			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	278										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGGCAGTACAGATCAACTTAA	0.423																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(100-102)Gat>Tat		family with sequence similarity 117, member B							97.0	96.0	96.0					2																	203589718		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203589718G>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.832G>T	2.37:g.203589718G>T	ENSP00000376071:p.Asp278Tyr					FAM117B_ENST00000392238.2_Missense_Mutation_p.D278Y	p.D34Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			3	842	+			278			Gly-rich.		Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.100G>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924598	0.92319	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.89	5.89	0.94794	.	0.234157	0.49916	D	0.000136	T	0.75510	0.3859	L	0.52011	1.625	0.48830	D	0.99971	D;D	0.76494	0.992;0.999	P;D	0.66497	0.863;0.944	T	0.76088	-0.3087	9	0.87932	D	0	-17.9316	19.8459	0.96707	0.0:0.0:1.0:0.0	.	278;278	Q6P1L5;Q6P1L5-2	F117B_HUMAN;.	Y	34;278	.	ENSP00000306299:D34Y	D	+	1	0	FAM117B	203297963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.335000	0.90031	2.788000	0.95919	0.585000	0.79938	GAT		0.423	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		6	57	1	0	3.59834e-05	1	4.01776e-05	6	57				
ZNF544	27300	broad.mit.edu	37	19	58773033	58773033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773033C>A	ENST00000596652.1	+	6	1295	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y	ZNF544_ENST00000415203.2_Missense_Mutation_p.S326Y|ZNF544_ENST00000600044.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000269829.4_Missense_Mutation_p.S354Y|ZNF544_ENST00000599953.1_Missense_Mutation_p.S212Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAGAAGCCATCTGTGTGTAAT	0.473																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1060-1062)tCt>tAt		zinc finger protein 544							82.0	78.0	79.0					19																	58773033		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773033C>A	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1061C>A	19.37:g.58773033C>A	ENSP00000469635:p.Ser354Tyr					ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.S326Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.S354Y|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.S212Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000415203.2_Missense_Mutation_p.S326Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR	p.S354Y	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1535	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	354					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1061C>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.632737	0.00007	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.11063	2.81;2.81	3.05	-6.1	0.02138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00875	0.0029	N	0.00014	-2.895	0.09310	N	0.999997	B;B;B	0.21606	0.0;0.001;0.058	B;B;B	0.01281	0.0;0.0;0.0	T	0.30707	-0.9969	9	0.02654	T	1	.	1.2173	0.01917	0.1852:0.1412:0.1872:0.4865	.	326;326;354	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	Y	354;326;18	ENSP00000269829:S354Y;ENSP00000394341:S326Y	ENSP00000269829:S354Y	S	+	2	0	ZNF544	63464845	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.279000	0.01159	-1.969000	0.01005	-2.290000	0.00267	TCT		0.473	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		8	50	1	0	1.12685e-05	1	1.27857e-05	8	50				
BCL11A	53335	broad.mit.edu	37	2	60688784	60688784	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60688784C>A	ENST00000335712.6	-	4	1490	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	BCL11A_ENST00000358510.4_Missense_Mutation_p.K387N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.K387N|BCL11A_ENST00000537768.1_Missense_Mutation_p.K90N|BCL11A_ENST00000356842.4_Missense_Mutation_p.K421N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	421					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCATGTGGCGCTTCAGCTTGC	0.642			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1261-1263)aaG>aaT		B-cell CLL/lymphoma 11A (zinc finger protein)							101.0	93.0	96.0					2																	60688784		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688784C>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1263G>T	2.37:g.60688784C>A	ENSP00000338774:p.Lys421Asn					BCL11A_ENST00000356842.4_Missense_Mutation_p.K421N|BCL11A_ENST00000358510.4_Missense_Mutation_p.K387N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.K90N|BCL11A_ENST00000538214.1_Missense_Mutation_p.K387N	p.K421N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1490	-			421					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1263G>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998518	0.19121	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.16196	3.19;3.19;2.36;5.2;5.2	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.057020	0.64402	D	0.000003	T	0.32526	0.0832	L	0.52011	1.625	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.999;0.989	D;D;D;D;P	0.76575	0.986;0.981;0.988;0.978;0.874	T	0.01363	-1.1374	10	0.24483	T	0.36	-2.3373	12.2749	0.54728	0.0:0.9223:0.0:0.0777	.	387;90;387;421;421	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	N	421;457;387;90;421;387	ENSP00000349300:K421N;ENSP00000438303:K387N;ENSP00000443712:K90N;ENSP00000338774:K421N;ENSP00000351307:K387N	ENSP00000338774:K421N	K	-	3	2	BCL11A	60542288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.598000	0.46223	2.461000	0.83175	0.655000	0.94253	AAG		0.642	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		26	48	1	0	1.2476e-16	1	1.61147e-16	26	48				
PRICKLE4	29964	broad.mit.edu	37	6	41751912	41751912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41751912A>G	ENST00000394260.1	+	1	56	c.56A>G	c.(55-57)aAc>aGc	p.N19S	PRICKLE4_ENST00000359201.5_Missense_Mutation_p.N59S|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.N19S			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	19	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGACACCAACCAAGCCCCC	0.547																																						ENST00000359201.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(175-177)aAc>aGc		prickle homolog 4 (Drosophila)							152.0	121.0	131.0					6																	41751912		2203	4300	6503	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41751912A>G	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.56A>G	6.37:g.41751912A>G	ENSP00000377803:p.Asn19Ser					PRICKLE4_ENST00000458694.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.N19S|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.N19S	p.N59S			Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	765	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		19			PET.		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.176A>G		.	.	.	.	.	.	.	.	.	.	A	9.826	1.187056	0.21870	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	T;T;T;T;T	0.69685	-0.15;-0.42;-0.15;-0.27;-0.01	4.54	-6.06	0.02165	.	1.076960	0.07148	N	0.848582	T	0.18215	0.0437	N	0.05383	-0.06	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.13872	-1.0493	10	0.24483	T	0.36	-1.4749	8.7757	0.34760	0.2852:0.1458:0.569:0.0	.	59	Q2TBC4-3	.	S	59;59;59;19;19	ENSP00000404911:N59S;ENSP00000352128:N59S;ENSP00000377806:N59S;ENSP00000377802:N19S;ENSP00000377803:N19S	ENSP00000335185:N59S	N	+	2	0	PRICKLE4	41859890	0.000000	0.05858	0.000000	0.03702	0.524000	0.34500	-1.807000	0.01734	-1.105000	0.03011	0.459000	0.35465	AAC		0.547	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		9	16	0	0	0	1	0	9	16				
SLC7A14	57709	broad.mit.edu	37	3	170204111	170204111	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170204111T>C	ENST00000231706.5	-	5	1121	c.806A>G	c.(805-807)gAc>gGc	p.D269G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	269					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCGATGATGTCAAAGCCAAT	0.527																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(805-807)gAc>gGc		solute carrier family 7, member 14							335.0	251.0	279.0					3																	170204111		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170204111T>C	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.806A>G	3.37:g.170204111T>C	ENSP00000231706:p.Asp269Gly					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.D269G	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		5	1121	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		269					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.806A>G	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.976955	0.92982	.	.	ENSG00000013293	ENST00000231706	D	0.90385	-2.66	5.95	5.95	0.96441	Amino acid permease domain (1);	0.040890	0.85682	D	0.000000	D	0.96361	0.8813	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97124	0.9813	10	0.87932	D	0	.	16.4092	0.83701	0.0:0.0:0.0:1.0	.	269	Q8TBB6	S7A14_HUMAN	G	269	ENSP00000231706:D269G	ENSP00000231706:D269G	D	-	2	0	SLC7A14	171686805	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.638000	0.83328	2.276000	0.75962	0.460000	0.39030	GAC		0.527	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		17	32	0	0	0	1	0	17	32				
HK3	3101	broad.mit.edu	37	5	176308174	176308174	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176308174C>T	ENST00000292432.5	-	19	2763	c.2672G>A	c.(2671-2673)cGc>cAc	p.R891H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	891	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCACACAGCGAGGGGCCAG	0.672																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2671-2673)cGc>cAc		hexokinase 3 (white cell)							51.0	49.0	49.0					5																	176308174		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308174C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2672G>A	5.37:g.176308174C>T	ENSP00000292432:p.Arg891His						p.R891H	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		19	2763	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	891			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2672G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	8.515	0.867409	0.17250	.	.	ENSG00000160883	ENST00000292432	D	0.98120	-4.73	5.22	0.32	0.15878	Hexokinase, C-terminal (1);	0.633028	0.14191	N	0.335344	D	0.92880	0.7735	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	D	0.85514	0.1199	10	0.42905	T	0.14	-3.7085	5.1542	0.15027	0.1317:0.487:0.0:0.3813	.	891	P52790	HXK3_HUMAN	H	891	ENSP00000292432:R891H	ENSP00000292432:R891H	R	-	2	0	HK3	176240780	0.000000	0.05858	0.109000	0.21407	0.777000	0.43975	0.149000	0.16243	-0.133000	0.11537	-0.969000	0.02612	CGC		0.672	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			4	22	0	0	0	1	0	4	22				
LCA5	167691	broad.mit.edu	37	6	80196729	80196729	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80196729G>A	ENST00000392959.1	-	9	2697	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	LCA5_ENST00000369846.4_Silent_p.L696L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	696					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTCATCTCAGTGCTACTTCT	0.279																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(2086-2088)Ctg>Ttg		Leber congenital amaurosis 5							38.0	42.0	41.0					6																	80196729		2202	4299	6501	SO:0001819	synonymous_variant	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80196729G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.2086C>T	6.37:g.80196729G>A						LCA5_ENST00000369846.4_Silent_p.L696L	p.L696L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	9	2697	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	696					E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	37	c.2086C>T	CCDS4990.1																																																																																				0.279	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		5	35	0	0	0	1	0	5	35				
ICA1	3382	broad.mit.edu	37	7	8178614	8178614	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8178614C>A	ENST00000402384.3	-	11	1285		c.e11+1		ICA1_ENST00000401396.1_Splice_Site|ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000422063.2_Splice_Site|ICA1_ENST00000396675.3_Splice_Site|ICA1_ENST00000406470.2_Splice_Site			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATCTAGGTTACCTGAGCATGC	0.333																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.e11+1		islet cell autoantigen 1, 69kDa							128.0	123.0	124.0					7																	8178614		2203	4300	6503	SO:0001630	splice_region_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8178614C>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1018+1G>T	7.37:g.8178614C>A						ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000401396.1_Splice_Site|ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000422063.2_Splice_Site|ICA1_ENST00000396675.3_Splice_Site				Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	11	1285	-		Ovarian(82;0.0612)						A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Splice_Site	SNP	ENST00000402384.3	37		CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092534	0.56075	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5671	0.76303	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ICA1	8145139	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	3.630000	0.54273	2.785000	0.95823	0.655000	0.94253	.		0.333	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968	Intron	5	108	1	0	0.014758	1	0.0152625	5	108				
SREBF1	6720	broad.mit.edu	37	17	17722350	17722350	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17722350G>T	ENST00000261646.5	-	5	1229	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	SREBF1_ENST00000338854.5_Missense_Mutation_p.L349M|SREBF1_ENST00000355815.4_Missense_Mutation_p.L379M|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000435530.2_Missense_Mutation_p.L349M|SREBF1_ENST00000395757.1_Missense_Mutation_p.L95M	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	349	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCCACCACCAGATCCTTGAGC	0.587																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1135-1137)Ctg>Atg		sterol regulatory element binding transcription factor 1							94.0	88.0	90.0					17																	17722350		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17722350G>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1045C>A	17.37:g.17722350G>T	ENSP00000261646:p.Leu349Met					SREBF1_ENST00000435530.2_Missense_Mutation_p.L349M|SREBF1_ENST00000338854.5_Missense_Mutation_p.L349M|SREBF1_ENST00000395757.1_Missense_Mutation_p.L95M|SREBF1_ENST00000261646.5_Missense_Mutation_p.L349M	p.L379M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			6	1304	-			349			Interaction with LMNA (By similarity).|Leucine-zipper.		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1135C>A	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.694296|1.694296	0.30052|0.30052	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530|ENST00000395751	D;D;D;D;D|.	0.98602|.	-5.02;-5.02;-5.02;-5.02;-5.02|.	4.62|4.62	4.62|4.62	0.57501|0.57501	Helix-loop-helix DNA-binding (5);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.57417|0.57417	0.2052|0.2052	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	1.0;0.873;1.0;1.0|.	D;P;D;D|.	0.97110|.	1.0;0.873;1.0;1.0|.	T|T	0.54761|0.54761	-0.8245|-0.8245	10|5	0.56958|.	D|.	0.05|.	-6.5217|-6.5217	11.7018|11.7018	0.51575|0.51575	0.088:0.0:0.912:0.0|0.088:0.0:0.912:0.0	.|.	349;325;349;379|.	B0I4X3;B0I4X4;P36956;P36956-4|.	.;.;SRBP1_HUMAN;.|.	M|Y	349;379;349;95;186;275;349|356	ENSP00000345822:L349M;ENSP00000348069:L379M;ENSP00000261646:L349M;ENSP00000379106:L95M;ENSP00000413389:L349M|.	ENSP00000261646:L349M|.	L|S	-|-	1|2	2|0	SREBF1|SREBF1	17663075|17663075	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.230000|3.230000	0.51286|0.51286	2.100000|2.100000	0.63781|0.63781	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.587	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		9	74	1	0	3.09899e-07	1	3.63227e-07	9	74				
NAA25	80018	broad.mit.edu	37	12	112518933	112518933	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112518933G>A	ENST00000261745.4	-	5	656	c.408C>T	c.(406-408)ggC>ggT	p.G136G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	136						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAGAGCCATGCCAGCCTAAA	0.373																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(406-408)ggC>ggT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							119.0	125.0	123.0					12																	112518933		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112518933G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.408C>T	12.37:g.112518933G>A							p.G136G	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			5	656	-			136					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.408C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036135	0.54896	.	.	ENSG00000111300	ENST00000547133	.	.	.	5.6	4.63	0.57726	.	.	.	.	.	T	0.64605	0.2613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62115	-0.6922	4	.	.	.	-6.9194	13.1875	0.59691	0.0:0.0:0.7593:0.2407	.	.	.	.	Y	98	.	.	H	-	1	0	NAA25	111003316	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.171000	0.58236	2.627000	0.88993	0.655000	0.94253	CAT		0.373	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		22	177	0	0	0	1	0	22	177				
MAPK10	5602	broad.mit.edu	37	4	87028381	87028381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87028381T>C	ENST00000359221.3	-	5	887	c.361A>G	c.(361-363)Aaa>Gaa	p.K121E	MAPK10_ENST00000395160.3_De_novo_Start_InFrame|MAPK10_ENST00000361569.2_Missense_Mutation_p.K121E|MAPK10_ENST00000395157.3_De_novo_Start_InFrame|MAPK10_ENST00000449047.2_De_novo_Start_InFrame|MAPK10_ENST00000395161.2_Missense_Mutation_p.K121E|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.K83E|MAPK10_ENST00000395166.1_Missense_Mutation_p.K83E			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTCACGTTTTTATGGTTCACA	0.418																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(247-249)Aaa>Gaa		mitogen-activated protein kinase 10							104.0	102.0	103.0					4																	87028381		2203	4299	6502	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87028381T>C	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.361A>G	4.37:g.87028381T>C	ENSP00000352157:p.Lys121Glu					MAPK10_ENST00000395160.3_De_novo_Start_InFrame|MAPK10_ENST00000359221.3_Missense_Mutation_p.K121E|MAPK10_ENST00000395166.1_Missense_Mutation_p.K83E|MAPK10_ENST00000361569.2_Missense_Mutation_p.K121E|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000449047.2_De_novo_Start_InFrame|MAPK10_ENST00000395157.3_De_novo_Start_InFrame|MAPK10_ENST00000395161.2_Missense_Mutation_p.K121E	p.K83E	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	5	967	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	121			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.247A>G	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777085	0.49786	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000361569;ENST00000395166;ENST00000395161;ENST00000512017;ENST00000512564;ENST00000511167	D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	N	0.02202	-0.64	0.80722	D	1	D;D;D;D	0.71674	0.97;0.993;0.998;0.998	P;D;D;D	0.68943	0.852;0.929;0.958;0.961	T	0.73610	-0.3928	10	0.02654	T	1	-18.603	16.3291	0.83001	0.0:0.0:0.0:1.0	.	7;83;121;121	B7Z1Z1;P53779-3;P53779-2;P53779	.;.;.;MK10_HUMAN	E	83;121;121;83;121;121;83;121	ENSP00000378598:K83E;ENSP00000352157:K121E;ENSP00000355297:K121E;ENSP00000378595:K83E;ENSP00000378590:K121E;ENSP00000424755:K121E;ENSP00000422985:K83E;ENSP00000422277:K121E	ENSP00000309857:K121E	K	-	1	0	MAPK10	87247405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.257000	0.74773	0.528000	0.53228	AAA		0.418	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			15	32	0	0	0	1	0	15	32				
MYH14	79784	broad.mit.edu	37	19	50720971	50720971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50720971G>A	ENST00000596571.1	+	2	505	c.505G>A	c.(505-507)Gag>Aag	p.E169K	MYH14_ENST00000425460.1_Missense_Mutation_p.E169K|MYH14_ENST00000601313.1_Missense_Mutation_p.E169K|MYH14_ENST00000262269.8_Missense_Mutation_p.E169K|MYH14_ENST00000598205.1_Missense_Mutation_p.E169K|MYH14_ENST00000440075.2_Missense_Mutation_p.E169K|MYH14_ENST00000376970.2_Missense_Mutation_p.E169K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	169	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCGCCACGAGGTGCCACC	0.612																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(505-507)Gag>Aag		myosin, heavy chain 14, non-muscle							69.0	77.0	75.0					19																	50720971		2155	4254	6409	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50720971G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.505G>A	19.37:g.50720971G>A	ENSP00000472819:p.Glu169Lys					MYH14_ENST00000596571.1_Missense_Mutation_p.E169K|MYH14_ENST00000425460.1_Missense_Mutation_p.E169K|MYH14_ENST00000262269.8_Missense_Mutation_p.E169K|MYH14_ENST00000376970.2_Missense_Mutation_p.E169K|MYH14_ENST00000598205.1_Missense_Mutation_p.E169K|MYH14_ENST00000601313.1_Missense_Mutation_p.E169K	p.E169K			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	3	552	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	169			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.505G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688095	0.88639	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	4.63	4.63	0.57726	Myosin head, motor domain (2);	.	.	.	.	D	0.95758	0.8620	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.983;0.971	D	0.96316	0.9232	9	0.87932	D	0	.	15.3635	0.74499	0.0:0.0:1.0:0.0	.	169;169;169	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	K	169	ENSP00000406273:E169K;ENSP00000366169:E169K;ENSP00000407879:E169K;ENSP00000262269:E169K	ENSP00000262269:E169K	E	+	1	0	MYH14	55412783	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	9.596000	0.98267	2.579000	0.87056	0.655000	0.94253	GAG		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		40	51	0	0	0	1	0	40	51				
SPG21	51324	broad.mit.edu	37	15	65275859	65275859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65275859C>T	ENST00000204566.2	-	2	344	c.49G>A	c.(49-51)Gtt>Att	p.V17I	SPG21_ENST00000416889.2_Missense_Mutation_p.V17I|SPG21_ENST00000559199.1_5'Flank|SPG21_ENST00000433215.2_Missense_Mutation_p.V17I|SPG21_ENST00000560564.1_Intron	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	17					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTAAGGGGAACTGTACCTCTA	0.333																																						ENST00000204566.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(49-51)Gtt>Att		spastic paraplegia 21 (autosomal recessive, Mast syndrome)							78.0	71.0	73.0					15																	65275859		2197	4293	6490	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65275859C>T	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.49G>A	15.37:g.65275859C>T	ENSP00000204566:p.Val17Ile					SPG21_ENST00000560564.1_Intron|SPG21_ENST00000433215.2_Missense_Mutation_p.V17I|SPG21_ENST00000416889.2_Missense_Mutation_p.V17I	p.V17I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN			2	344	-			17					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.49G>A	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367390	0.61513	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	L	0.33792	1.035	0.80722	D	1	B;B	0.27559	0.101;0.181	B;B	0.26310	0.042;0.068	T	0.50197	-0.8856	9	0.37606	T	0.19	-0.6884	18.5041	0.90891	0.0:1.0:0.0:0.0	.	17;17	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	I	17	.	ENSP00000204566:V17I	V	-	1	0	SPG21	63062912	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.721000	0.84768	2.621000	0.88768	0.655000	0.94253	GTT		0.333	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		4	4	0	0	0	1	0	4	4				
CA5A	763	broad.mit.edu	37	16	87921777	87921777	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921777G>T	ENST00000309893.2	-	7	941	c.876C>A	c.(874-876)gtC>gtA	p.V292V		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	292					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	AGGACGCCCAGACCTTCCGGT	0.488																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(874-876)gtC>gtA		carbonic anhydrase VA, mitochondrial							85.0	74.0	78.0					16																	87921777		2198	4300	6498	SO:0001819	synonymous_variant	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87921777G>T	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.876C>A	16.37:g.87921777G>T							p.V292V	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	7	941	-			292					B2RPF2	Silent	SNP	ENST00000309893.2	37	c.876C>A	CCDS10965.1																																																																																				0.488	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		5	59	1	0	0.000602214	1	0.000649039	5	59				
DOCK5	80005	broad.mit.edu	37	8	25230229	25230229	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25230229G>A	ENST00000276440.7	+	35	3723	c.3679G>A	c.(3679-3681)Gtg>Atg	p.V1227M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1227					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CACTGTGAACGTGCTGGTATG	0.557																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3679-3681)Gtg>Atg		dedicator of cytokinesis 5							96.0	77.0	83.0					8																	25230229		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25230229G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3679G>A	8.37:g.25230229G>A	ENSP00000276440:p.Val1227Met						p.V1227M	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	35	3723	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1227			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3679G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.88|15.88	2.964541|2.964541	0.53507|0.53507	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.20200	.|2.09	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	.|0.064498	.|0.64402	.|D	.|0.000008	T|T	0.36496|0.36496	0.0969|0.0969	L|L	0.45285|0.45285	1.41|1.41	0.44927|0.44927	D|D	0.997944|0.997944	.|D;P;P;P	.|0.89917	.|1.0;0.598;0.938;0.77	.|D;B;P;B	.|0.76071	.|0.987;0.208;0.497;0.283	T|T	0.10359|0.10359	-1.0633|-1.0633	5|10	.|0.72032	.|D	.|0.01	.|.	11.3506|11.3506	0.49585|0.49585	0.0:0.137:0.7205:0.1425|0.0:0.137:0.7205:0.1425	.|.	.|16;1217;1002;1227	.|Q6ZP32;D3DSS6;Q68DL4;Q9H7D0	.|.;.;.;DOCK5_HUMAN	H|M	998|1227	.|ENSP00000276440:V1227M	.|ENSP00000276440:V1227M	R|V	+|+	2|1	0|0	DOCK5|DOCK5	25286146|25286146	1.000000|1.000000	0.71417|0.71417	0.805000|0.805000	0.32314|0.32314	0.870000|0.870000	0.49936|0.49936	3.874000|3.874000	0.56101|0.56101	1.338000|1.338000	0.45544|0.45544	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.557	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		6	10	0	0	0	1	0	6	10				
SLC4A1	6521	broad.mit.edu	37	17	42338163	42338163	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42338163C>A	ENST00000262418.6	-	5	344	c.189G>T	c.(187-189)gaG>gaT	p.E63D	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	63	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCACCAGCTCCTGCAGCT	0.617																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(187-189)gaG>gaT		solute carrier family 4 (anion exchanger), member 1							65.0	56.0	59.0					17																	42338163		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42338163C>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.189G>T	17.37:g.42338163C>A	ENSP00000262418:p.Glu63Asp					AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	p.E63D	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	5	344	-		Breast(137;0.014)|Prostate(33;0.0181)	63					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.189G>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	17.55	3.418713	0.62622	.	.	ENSG00000004939	ENST00000262418	D	0.82619	-1.63	4.98	-4.79	0.03200	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.061545	0.64402	D	0.000008	T	0.80352	0.4607	M	0.76727	2.345	0.32373	N	0.555632	P;P	0.48640	0.867;0.913	B;B	0.42462	0.322;0.388	T	0.82561	-0.0396	10	0.87932	D	0	.	15.1245	0.72472	0.0:0.6386:0.0:0.3614	.	63;63	E2RVJ0;P02730	.;B3AT_HUMAN	D	63	ENSP00000262418:E63D	ENSP00000262418:E63D	E	-	3	2	SLC4A1	39693689	0.889000	0.30405	0.831000	0.32960	0.436000	0.31835	-0.012000	0.12699	-0.848000	0.04163	-0.254000	0.11334	GAG		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		4	30	1	0	1	1	1	4	30				
CAND1	55832	broad.mit.edu	37	12	67686508	67686508	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67686508A>G	ENST00000545606.1	+	3	756	c.319A>G	c.(319-321)Agt>Ggt	p.S107G		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	107					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGACATTTCAAGTATTGGTCT	0.368																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(319-321)Agt>Ggt		cullin-associated and neddylation-dissociated 1							129.0	128.0	128.0					12																	67686508		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67686508A>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.319A>G	12.37:g.67686508A>G	ENSP00000442318:p.Ser107Gly						p.S107G	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	3	756	+			107					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.319A>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318340	0.40996	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.66099	-0.19	5.04	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.188736	0.53938	D	0.000048	T	0.51924	0.1703	L	0.45698	1.435	0.80722	D	1	B	0.15719	0.014	B	0.14023	0.01	T	0.41395	-0.9511	9	.	.	.	-11.6973	10.603	0.45377	0.9244:0.0:0.0756:0.0	.	107	Q86VP6	CAND1_HUMAN	G	107	ENSP00000442318:S107G	.	S	+	1	0	CAND1	65972775	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	5.918000	0.69996	0.778000	0.33520	0.533000	0.62120	AGT		0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		55	82	0	0	0	1	0	55	82				
CUBN	8029	broad.mit.edu	37	10	17107602	17107602	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17107602C>A	ENST00000377833.4	-	22	3109	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1015	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTACCACTGCTTGTGAGAGA	0.413																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3043-3045)aGc>aTc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						228.0	204.0	212.0					10																	17107602		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17107602C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3044G>T	10.37:g.17107602C>A	ENSP00000367064:p.Ser1015Ile						p.S1015I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			22	3109	-			1015			CUB 5.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3044G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527964	0.64860	.	.	ENSG00000107611	ENST00000377833	T	0.39787	1.06	5.92	5.92	0.95590	CUB (5);	0.000000	0.53938	D	0.000046	T	0.78509	0.4294	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84958	0.0875	10	0.87932	D	0	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	1015	O60494	CUBN_HUMAN	I	1015	ENSP00000367064:S1015I	ENSP00000367064:S1015I	S	-	2	0	CUBN	17147608	1.000000	0.71417	0.911000	0.35937	0.091000	0.18340	6.634000	0.74290	2.810000	0.96702	0.650000	0.86243	AGC		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		74	104	1	0	9.42754e-34	1	1.26687e-33	74	104				
LRFN5	145581	broad.mit.edu	37	14	42356889	42356889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356889C>A	ENST00000298119.4	+	3	2250	c.1061C>A	c.(1060-1062)gCt>gAt	p.A354D	LRFN5_ENST00000554120.1_Missense_Mutation_p.A354D|LRFN5_ENST00000554171.1_Missense_Mutation_p.A354D	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	354	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATACAGGTGCTTTTACCTGC	0.383										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1060-1062)gCt>gAt		leucine rich repeat and fibronectin type III domain containing 5							95.0	94.0	94.0					14																	42356889		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356889C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1061C>A	14.37:g.42356889C>A	ENSP00000298119:p.Ala354Asp	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.A354D|LRFN5_ENST00000554120.1_Missense_Mutation_p.A354D	p.A354D			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3493	+			354			Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1061C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493417	0.26774	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.67171	-0.25;-0.25;-0.25	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109676	0.40728	N	0.001028	T	0.51669	0.1688	N	0.20483	0.58	0.41002	D	0.984933	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.47368	-0.9123	10	0.13853	T	0.58	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	354;354	G3V364;Q96NI6	.;LRFN5_HUMAN	D	354	ENSP00000298119:A354D;ENSP00000451897:A354D;ENSP00000451067:A354D	ENSP00000298119:A354D	A	+	2	0	LRFN5	41426639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.766000	0.62279	2.680000	0.91292	0.563000	0.77884	GCT		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		30	61	1	0	2.61193e-14	1	3.33086e-14	30	61				
LRRIQ1	84125	broad.mit.edu	37	12	85449803	85449803	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85449803G>T	ENST00000393217.2	+	8	1293	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	411										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAACATTTAAGTCTTGAAGAT	0.318																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1231-1233)aGt>aTt		leucine-rich repeats and IQ motif containing 1							73.0	83.0	79.0					12																	85449803		2203	4290	6493	SO:0001583	missense	84125							g.chr12:85449803G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1232G>T	12.37:g.85449803G>T	ENSP00000376910:p.Ser411Ile						p.S411I	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1293	+			411					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.1232G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	6.778	0.512547	0.12944	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.51817	0.69	4.65	-1.8	0.07907	.	1.497460	0.03641	N	0.239523	T	0.17746	0.0426	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.04708	-1.0932	10	0.20519	T	0.43	.	0.6373	0.00804	0.2908:0.3103:0.1096:0.2892	.	411;386	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	411;386;411	ENSP00000376910:S411I	ENSP00000256007:S411I	S	+	2	0	LRRIQ1	83973934	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.787000	0.04618	-0.646000	0.05452	-0.823000	0.03104	AGT		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		33	63	1	0	9.17885e-22	1	1.20931e-21	33	63				
PDCD1LG2	80380	broad.mit.edu	37	9	5534953	5534953	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534953C>T	ENST00000397747.3	+	3	512	c.264C>T	c.(262-264)caC>caT	p.H88H	PDCD1LG2_ENST00000397745.2_Silent_p.H88H	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	88	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCTCGTTCCACATACCTCAAG	0.507																																						ENST00000397747.3																			0				large_intestine(2)|lung(4)|prostate(2)	8						c.(262-264)caC>caT		programmed cell death 1 ligand 2							94.0	83.0	87.0					9																	5534953		2203	4300	6503	SO:0001819	synonymous_variant	80380				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5534953C>T	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.264C>T	9.37:g.5534953C>T						PDCD1LG2_ENST00000397745.2_Silent_p.H88H	p.H88H	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	3	512	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	88			Ig-like V-type.		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Silent	SNP	ENST00000397747.3	37	c.264C>T	CCDS6465.1																																																																																				0.507	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		6	33	0	0	0	1	0	6	33				
G6PC3	92579	broad.mit.edu	37	17	42153059	42153059	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42153059T>C	ENST00000269097.4	+	6	920	c.689T>C	c.(688-690)cTa>cCa	p.L230P		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	230					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCATCAGCCTAGCCTTCAAG	0.617																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(688-690)cTa>cCa		glucose 6 phosphatase, catalytic, 3							111.0	104.0	106.0					17																	42153059		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153059T>C	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.689T>C	17.37:g.42153059T>C	ENSP00000269097:p.Leu230Pro						p.L230P	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	920	+		Breast(137;0.00637)|Prostate(33;0.0313)	230					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.689T>C	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974331	0.74246	.	.	ENSG00000141349	ENST00000269097	T	0.79352	-1.26	5.4	5.4	0.78164	.	0.159509	0.42682	D	0.000677	D	0.83681	0.5307	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82255	-0.0548	10	0.34782	T	0.22	-12.3094	13.0392	0.58889	0.0:0.0:0.0:1.0	.	230	Q9BUM1	G6PC3_HUMAN	P	230	ENSP00000269097:L230P	ENSP00000269097:L230P	L	+	2	0	G6PC3	39508585	0.992000	0.36948	0.991000	0.47740	0.975000	0.68041	3.747000	0.55134	2.274000	0.75844	0.533000	0.62120	CTA		0.617	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		6	107	0	0	0	1	0	6	107				
RASA4CP	401331	broad.mit.edu	37	7	44073779	44073779	+	RNA	SNP	C	C	A	rs547910774		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44073779C>A	ENST00000446874.1	-	0	333									RAS p21 protein activator 4C, pseudogene																		TCCCACCTGTCTTCTCTTTTT	0.622																																						ENST00000446874.1																			0																																																			0							g.chr7:44073779C>A			7p13	2012-07-04			ENSG00000228903	ENSG00000228903			44185	pseudogene	pseudogene							Standard	NR_024116		Approved		uc011kbk.1		OTTHUMG00000155354		7.37:g.44073779C>A														0	333	-									RNA	SNP	ENST00000446874.1	37																																																																																						0.622	RASA4CP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339613.1	NR_024116		4	14	1	0	3.59834e-05	1	4.01776e-05	4	14				
SMC3	9126	broad.mit.edu	37	10	112364052	112364052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112364052C>T	ENST00000361804.4	+	29	3772	c.3646C>T	c.(3646-3648)Cat>Tat	p.H1216Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1216					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGATACCACACATGGTTAATT	0.323																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3646-3648)Cat>Tat		structural maintenance of chromosomes 3							112.0	109.0	110.0					10																	112364052		2203	4298	6501	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112364052C>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3646C>T	10.37:g.112364052C>T	ENSP00000354720:p.His1216Tyr						p.H1216Y	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	29	3772	+		Breast(234;0.0848)|Lung NSC(174;0.238)	1216					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.3646C>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569486	0.86439	.	.	ENSG00000108055	ENST00000361804	T	0.76186	-1.0	5.62	5.62	0.85841	.	0.090755	0.85682	D	0.000000	D	0.87132	0.6101	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.87989	0.2748	10	0.87932	D	0	.	19.6696	0.95907	0.0:1.0:0.0:0.0	.	1216	Q9UQE7	SMC3_HUMAN	Y	1216	ENSP00000354720:H1216Y	ENSP00000354720:H1216Y	H	+	1	0	SMC3	112354042	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.665000	0.90641	0.585000	0.79938	CAT		0.323	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		23	61	0	0	0	1	0	23	61				
OR1M1	125963	broad.mit.edu	37	19	9204585	9204585	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204585T>C	ENST00000429566.3	+	1	731	c.665T>C	c.(664-666)cTt>cCt	p.L222P		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCGCATCCTTGTGGCCATC	0.567																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(664-666)cTt>cCt		olfactory receptor, family 1, subfamily M, member 1							134.0	114.0	121.0					19																	9204585		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204585T>C		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.665T>C	19.37:g.9204585T>C	ENSP00000401966:p.Leu222Pro						p.L222P	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	731	+			222					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.665T>C	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	t	10.45	1.353184	0.24512	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.00249	8.44	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	1.029790	0.07723	N	0.943937	T	0.00300	0.0009	M	0.71206	2.165	0.09310	N	1	P	0.42941	0.794	P	0.45377	0.478	T	0.50320	-0.8842	10	0.87932	D	0	.	6.9345	0.24459	0.0:0.107:0.0:0.893	.	222	Q8NGA1	OR1M1_HUMAN	P	225;222	ENSP00000401966:L222P	ENSP00000303195:L225P	L	+	2	0	OR1M1	9065585	0.332000	0.24722	0.003000	0.11579	0.001000	0.01503	3.014000	0.49590	1.731000	0.51592	0.524000	0.50904	CTT		0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			15	86	0	0	0	1	0	15	86				
EPHB3	2049	broad.mit.edu	37	3	184290522	184290522	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184290522C>T	ENST00000330394.2	+	3	866	c.414C>T	c.(412-414)gaC>gaT	p.D138D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	138	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACGAGGCTGACAGCGATGTGG	0.582																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(412-414)gaC>gaT		EPH receptor B3							71.0	69.0	69.0					3																	184290522		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184290522C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.414C>T	3.37:g.184290522C>T						EIF2B5_ENST00000444495.1_Intron	p.D138D	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		3	866	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		138					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.414C>T	CCDS3268.1																																																																																				0.582	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		12	25	0	0	0	1	0	12	25				
IPO9	55705	broad.mit.edu	37	1	201828116	201828116	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201828116C>A	ENST00000361565.4	+	13	1531	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	488					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGACCTCAACCTCTCAGGTAT	0.468																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1462-1464)Ctc>Atc		importin 9							101.0	92.0	95.0					1																	201828116		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201828116C>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1462C>A	1.37:g.201828116C>A	ENSP00000354742:p.Leu488Ile						p.L488I	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			13	1531	+			488					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.1462C>A	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.125924	0.37533	.	.	ENSG00000198700	ENST00000361565	T	0.66460	-0.21	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	N	0.22421	0.69	0.51233	D	0.999916	B	0.12013	0.005	B	0.12837	0.008	T	0.47971	-0.9075	10	0.37606	T	0.19	-9.1329	17.867	0.88797	0.0:1.0:0.0:0.0	.	488	Q96P70	IPO9_HUMAN	I	488	ENSP00000354742:L488I	ENSP00000354742:L488I	L	+	1	0	IPO9	200094739	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.346000	0.44027	2.809000	0.96659	0.650000	0.86243	CTC		0.468	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		7	39	1	0	8.12818e-05	1	8.99451e-05	7	39				
GRIN2A	2903	broad.mit.edu	37	16	9857312	9857312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9857312G>A	ENST00000396573.2	-	14	4398	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Silent_p.S1363S|GRIN2A_ENST00000396575.2_Silent_p.S1363S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1363					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1363S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGGGTTATCGGAGGTGTGGT	0.557																																						ENST00000396573.2																			1	Substitution - coding silent(1)	p.S1363S(1)	lung(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4087-4089)tcC>tcT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						72.0	68.0	69.0					16																	9857312		2197	4300	6497	SO:0001819	synonymous_variant	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857312G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4089C>T	16.37:g.9857312G>A						GRIN2A_ENST00000396575.2_Silent_p.S1363S|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Silent_p.S1363S|GRIN2A_ENST00000535259.1_Intron	p.S1363S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4398	-			1363					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.4089C>T	CCDS10539.1																																																																																				0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			24	38	0	0	0	1	0	24	38				
TRMT11	60487	broad.mit.edu	37	6	126342392	126342392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126342392G>A	ENST00000334379.5	+	12	1347	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACATCAAGGCGCTTGATCACA	0.398																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1225-1227)cGc>cAc		tRNA methyltransferase 11 homolog (S. cerevisiae)							80.0	77.0	78.0					6																	126342392		2203	4300	6503	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126342392G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1226G>A	6.37:g.126342392G>A	ENSP00000333934:p.Arg409His					TRMT11_ENST00000368332.3_Missense_Mutation_p.R409H	p.R409H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	12	1347	+			409					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.1226G>A	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775682	0.90195	.	.	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.56275	0.48;0.47	5.67	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.69479	0.964;0.718	T	0.65520	-0.6148	10	0.41790	T	0.15	-1.4668	10.4566	0.44555	0.2093:0.0:0.7907:0.0	.	409;409	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	H	409	ENSP00000333934:R409H;ENSP00000357316:R409H	ENSP00000333934:R409H	R	+	2	0	TRMT11	126384085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.760000	0.68793	0.765000	0.33221	0.591000	0.81541	CGC		0.398	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		21	39	0	0	0	1	0	21	39				
NUMA1	4926	broad.mit.edu	37	11	71726695	71726695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726695C>A	ENST00000393695.3	-	15	2185	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E618D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGCAGAATCTCCAGCTTGG	0.622			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1852-1854)gaG>gaT		nuclear mitotic apparatus protein 1							41.0	40.0	40.0					11																	71726695		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726695C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1854G>T	11.37:g.71726695C>A	ENSP00000377298:p.Glu618Asp					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E618D|RP11-849H4.4_ENST00000502284.1_RNA	p.E618D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	2185	-			618						Missense_Mutation	SNP	ENST00000393695.3	37	c.1854G>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	7.895	0.733055	0.15507	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.46063	2.73;2.7;1.49;0.88	6.07	2.77	0.32553	.	0.299235	0.28996	N	0.013475	T	0.23492	0.0568	N	0.19112	0.55	0.09310	N	0.999994	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.11329	0.006;0.006;0.004;0.006	T	0.11542	-1.0583	10	0.30078	T	0.28	.	5.8696	0.18797	0.0:0.6252:0.1601:0.2146	.	624;102;618;618	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	D	618;618;181;618;618	ENSP00000351851:E618D;ENSP00000377298:E618D;ENSP00000444880:E618D;ENSP00000442936:E618D	ENSP00000351851:E618D	E	-	3	2	NUMA1	71404343	0.003000	0.15002	0.402000	0.26371	0.187000	0.23431	0.219000	0.17641	0.898000	0.36418	0.655000	0.94253	GAG		0.622	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	33	1	0	0.00909568	1	0.00947522	4	33				
KIF21B	23046	broad.mit.edu	37	1	200948844	200948844	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200948844C>T	ENST00000422435.2	-	30	4296		c.e30-1		KIF21B_ENST00000332129.2_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTTCGGTCTGTGAGAGAT	0.597											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.e29-1		kinesin family member 21B							138.0	138.0	138.0					1																	200948844		2203	4300	6503	SO:0001630	splice_region_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200948844C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3980-1G>A	1.37:g.200948844C>T			OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2118	KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site		NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			29	4257	-								B2RP62|B7ZMI0|Q5T4J3	Splice_Site	SNP	ENST00000422435.2	37		CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686798	0.68157	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3372	0.90293	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21B	199215467	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	7.474000	0.81024	2.312000	0.78011	0.563000	0.77884	.		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	Intron	79	96	0	0	0	1	0	79	96				
PDK3	5165	broad.mit.edu	37	X	24552111	24552111	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24552111G>T	ENST00000379162.4	+	11	1378	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	PDK3_ENST00000441463.2_Missense_Mutation_p.K381N	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	381					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCATTACAAGACCACGCCTG	0.418																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1141-1143)aaG>aaT		pyruvate dehydrogenase kinase, isozyme 3							75.0	64.0	68.0					X																	24552111		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24552111G>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1143G>T	X.37:g.24552111G>T	ENSP00000368460:p.Lys381Asn					PDK3_ENST00000379162.4_Missense_Mutation_p.K381N	p.K381N	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			11	1143	+			381					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.1143G>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942716	0.34283	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.46451	0.87;0.87	5.35	5.35	0.76521	.	0.205916	0.50627	D	0.000112	T	0.38026	0.1025	L	0.39147	1.195	0.51233	D	0.999919	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.09907	-1.0653	10	0.33141	T	0.24	-11.1055	18.1546	0.89687	0.0:0.0:1.0:0.0	.	381;381	B4DXG6;Q15120	.;PDK3_HUMAN	N	381	ENSP00000368460:K381N;ENSP00000387536:K381N	ENSP00000368460:K381N	K	+	3	2	PDK3	24462032	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.143000	0.71756	2.480000	0.83734	0.600000	0.82982	AAG		0.418	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		13	21	1	0	2.68362e-12	1	3.37045e-12	13	21				
CAMKK1	84254	broad.mit.edu	37	17	3776741	3776741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3776741C>T	ENST00000348335.2	-	11	1160	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	CAMKK1_ENST00000381771.2_Missense_Mutation_p.A376T|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A376T|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A365T	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACGCCAGTGGCCCATACATCC	0.632																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1126-1128)Gcc>Acc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							183.0	155.0	165.0					17																	3776741		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3776741C>T	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1012G>A	17.37:g.3776741C>T	ENSP00000323118:p.Ala338Thr					CAMKK1_ENST00000348335.2_Missense_Mutation_p.A338T|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A365T|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A376T	p.A376T			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	12	1273	-			338			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.1126G>A	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544936	0.86022	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.99;0.994	T	0.78545	-0.2163	10	0.87932	D	0	-20.0059	18.1294	0.89596	0.0:1.0:0.0:0.0	.	376;338	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	T	365;338;376;376	ENSP00000371188:A365T;ENSP00000323118:A338T;ENSP00000371190:A376T;ENSP00000158166:A376T	ENSP00000158166:A376T	A	-	1	0	CAMKK1	3723490	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	7.170000	0.77587	2.529000	0.85273	0.655000	0.94253	GCC		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		36	61	0	0	0	1	0	36	61				
SYT1	6857	broad.mit.edu	37	12	79689982	79689982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:79689982T>C	ENST00000261205.4	+	7	1265	c.608T>C	c.(607-609)cTt>cCt	p.L203P	SYT1_ENST00000552744.1_Missense_Mutation_p.L203P|SYT1_ENST00000393240.3_Missense_Mutation_p.L203P|SYT1_ENST00000457153.2_Missense_Mutation_p.L200P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	203	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CGAAAAACCCTTAATCCTGTC	0.378																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(607-609)cTt>cCt		synaptotagmin I							98.0	103.0	101.0					12																	79689982		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689982T>C		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.608T>C	12.37:g.79689982T>C	ENSP00000261205:p.Leu203Pro					SYT1_ENST00000552744.1_Missense_Mutation_p.L203P|SYT1_ENST00000457153.2_Missense_Mutation_p.L200P|SYT1_ENST00000393240.3_Missense_Mutation_p.L203P	p.L203P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			7	1265	+			203			C2 1.|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.608T>C	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290725	0.80914	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056267	0.64402	D	0.000001	T	0.38719	0.1051	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.37731	-0.9693	10	0.87932	D	0	.	15.9362	0.79712	0.0:0.0:0.0:1.0	.	203;203	Q6AI31;P21579	.;SYT1_HUMAN	P	203;203;200;203	ENSP00000376932:L203P;ENSP00000261205:L203P;ENSP00000391056:L200P;ENSP00000447575:L203P	ENSP00000261205:L203P	L	+	2	0	SYT1	78214113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.222000	0.72286	0.528000	0.53228	CTT		0.378	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		3	68	0	0	0	1	0	3	68				
SPA17	53340	broad.mit.edu	37	11	124561643	124561643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124561643T>C	ENST00000532692.1	+	3	1698	c.277T>C	c.(277-279)Tct>Cct	p.S93P	SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Missense_Mutation_p.S93P|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	93					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GTCTCAGATATCTGGGAAGGA	0.383																																						ENST00000532692.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5						c.(277-279)Tct>Cct		sperm autoantigenic protein 17							122.0	107.0	112.0					11																	124561643		2201	4299	6500	SO:0001583	missense	53340				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	g.chr11:124561643T>C	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.277T>C	11.37:g.124561643T>C	ENSP00000432305:p.Ser93Pro					SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Missense_Mutation_p.S93P	p.S93P			Q15506	SP17_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)	3	1698	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	93					B2R4F2|Q9BXF7	Missense_Mutation	SNP	ENST00000532692.1	37	c.277T>C	CCDS8450.1	.	.	.	.	.	.	.	.	.	.	T	2.342	-0.350937	0.05173	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	4.52	-2.4	0.06583	.	0.389404	0.23526	N	0.047223	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.09618	-1.0666	9	0.29301	T	0.29	0.1014	2.8291	0.05494	0.3226:0.2875:0.0:0.3898	.	93	Q15506	SP17_HUMAN	P	93	.	ENSP00000227135:S93P	S	+	1	0	SPA17	124066853	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.701000	0.05075	-0.193000	0.10415	-1.467000	0.01014	TCT		0.383	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	NM_017425		4	63	0	0	0	1	0	4	63				
SEPT14	346288	broad.mit.edu	37	7	55910781	55910781	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55910781C>T	ENST00000388975.3	-	5	528	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	SEPT14_ENST00000477628.1_5'Flank	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	138	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAAGATAGGCCTCAAATTGG	0.358																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(412-414)Gcc>Acc		septin 14							90.0	81.0	84.0					7																	55910781		1868	4108	5976	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55910781C>T	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.412G>A	7.37:g.55910781C>T	ENSP00000373627:p.Ala138Thr						p.A138T	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	528	-	Breast(14;0.214)		138					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.412G>A	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	14.32	2.501335	0.44455	.	.	ENSG00000154997	ENST00000388975	T	0.51817	0.69	4.33	3.42	0.39159	.	0.245457	0.27105	N	0.020905	T	0.55909	0.1950	L	0.56199	1.76	0.26130	N	0.98044	P	0.51791	0.948	P	0.59643	0.861	T	0.47598	-0.9105	10	0.24483	T	0.36	.	11.8861	0.52602	0.1882:0.8118:0.0:0.0	.	138	Q6ZU15	SEP14_HUMAN	T	138	ENSP00000373627:A138T	ENSP00000373627:A138T	A	-	1	0	SEPT14	55878275	0.934000	0.31675	1.000000	0.80357	0.376000	0.30014	0.440000	0.21592	1.048000	0.40298	0.655000	0.94253	GCC		0.358	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		7	12	0	0	0	1	0	7	12				
TRBV5-4	28611	broad.mit.edu	37	7	142168939	142168939	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142168939A>G	ENST00000454561.2	-	0	106									T cell receptor beta variable 5-4																		TCCTAATAGGAGGGGTATCCT	0.562																																						ENST00000454561.2																			0																																																			0							g.chr7:142168939A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168939A>G														0	106	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.562	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		7	5	0	0	0	1	0	7	5				
UBR5	51366	broad.mit.edu	37	8	103341316	103341316	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103341316A>G	ENST00000520539.1	-	11	1933		c.e11+1		UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTGTTTCATACCTTGTTATT	0.323																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.e11+1		ubiquitin protein ligase E3 component n-recognin 5							185.0	182.0	183.0					8																	103341316		2203	4300	6503	SO:0001630	splice_region_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103341316A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1326+1T>C	8.37:g.103341316A>G						UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site		NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		11	1933	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)							B2RP24|J3KMW7|O94970|Q9NPL3	Splice_Site	SNP	ENST00000520539.1	37		CCDS34933.1	.	.	.	.	.	.	.	.	.	.	a	22.2	4.253241	0.80135	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0186	0.71609	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR5	103410492	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	8.906000	0.92626	1.959000	0.56917	0.478000	0.44815	.		0.323	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	Intron	51	81	0	0	0	1	0	51	81				
TPCN2	219931	broad.mit.edu	37	11	68855400	68855400	+	Silent	SNP	G	G	A	rs370683955		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68855400G>A	ENST00000294309.3	+	25	2339	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P564P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	746					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAGCACCCGCACCTGTGGC	0.642																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2236-2238)ccG>ccA		two pore segment channel 2		G		0,4400		0,0,2200	22.0	27.0	26.0		2238	-7.1	0.3	11		26	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	TPCN2	NM_139075.3		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		746/753	68855400	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68855400G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2238G>A	11.37:g.68855400G>A						TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P564P	p.P746P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		25	2339	+			746					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.2238G>A	CCDS8189.1																																																																																				0.642	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		9	12	0	0	0	1	0	9	12				
SHANK2	22941	broad.mit.edu	37	11	70319333	70319333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319333C>T	ENST00000423696.2	-	16	4090	c.4054G>A	c.(4054-4056)Gcc>Acc	p.A1352T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1135T|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1732T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1136T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1352					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAAGGAGAGGCGGTGGCAGCA	0.602																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5194-5196)Gcc>Acc		SH3 and multiple ankyrin repeat domains 2							52.0	67.0	62.0					11																	70319333		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319333C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4054G>A	11.37:g.70319333C>T	ENSP00000394536:p.Ala1352Thr					SHANK2_ENST00000423696.2_Missense_Mutation_p.A1352T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1136T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A1135T	p.A1732T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5193	-			1352					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5194G>A		.	.	.	.	.	.	.	.	.	.	C	7.190	0.591331	0.13812	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.39056	2.41;2.39;3.1;1.1;2.52;2.52	5.37	4.46	0.54185	.	0.266734	0.42420	N	0.000705	T	0.18759	0.0450	N	0.08118	0	0.80722	D	1	P;D;P	0.54601	0.944;0.967;0.854	B;B;B	0.41619	0.359;0.361;0.245	T	0.12243	-1.0555	10	0.06099	T	0.92	.	9.6963	0.40158	0.1488:0.7763:0.0:0.075	.	1352;1731;1136	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	1136;1135;1010;1732;1352;1370;1355	ENSP00000399423:A1136T;ENSP00000386491:A1135T;ENSP00000402944:A1010T;ENSP00000345193:A1732T;ENSP00000394536:A1352T;ENSP00000294018:A1355T	ENSP00000294018:A1355T	A	-	1	0	SHANK2	69996981	0.714000	0.27936	0.010000	0.14722	0.305000	0.27757	0.863000	0.27913	1.264000	0.44198	0.650000	0.86243	GCC		0.602	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		35	56	0	0	0	1	0	35	56				
FBXL20	84961	broad.mit.edu	37	17	37455300	37455300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37455300C>T	ENST00000264658.6	-	5	532	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FBXL20_ENST00000394294.3_Missense_Mutation_p.G91D|FBXL20_ENST00000583610.1_Missense_Mutation_p.G91D|FBXL20_ENST00000577399.1_Missense_Mutation_p.G93D|AC005288.1_ENST00000584584.1_RNA	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	91					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCGTAAAAAGCCCCCACATCG	0.373																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(271-273)gGc>gAc		F-box and leucine-rich repeat protein 20							134.0	129.0	131.0					17																	37455300		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37455300C>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.272G>A	17.37:g.37455300C>T	ENSP00000264658:p.Gly91Asp					FBXL20_ENST00000577399.1_Missense_Mutation_p.G93D|FBXL20_ENST00000394294.3_Missense_Mutation_p.G91D|FBXL20_ENST00000583610.1_Missense_Mutation_p.G91D	p.G91D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		5	532	-			91					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.272G>A	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156077	0.94686	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.12255	4.31;2.7	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	0.978;1.0	D;D	0.76575	0.917;0.988	T	0.09037	-1.0693	10	0.12766	T	0.61	.	20.1554	0.98111	0.0:1.0:0.0:0.0	.	91;91	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	D	91	ENSP00000264658:G91D;ENSP00000377832:G91D	ENSP00000264658:G91D	G	-	2	0	FBXL20	34708826	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.272000	0.78516	2.838000	0.97847	0.591000	0.81541	GGC		0.373	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		29	63	0	0	0	1	0	29	63				
SORCS3	22986	broad.mit.edu	37	10	107016646	107016646	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107016646T>C	ENST00000369701.3	+	25	3634	c.3407T>C	c.(3406-3408)gTt>gCt	p.V1136A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1136					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGTATTTGTTGGCCTGGCT	0.418																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3406-3408)gTt>gCt		sortilin-related VPS10 domain containing receptor 3							182.0	154.0	163.0					10																	107016646		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107016646T>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3407T>C	10.37:g.107016646T>C	ENSP00000358715:p.Val1136Ala						p.V1136A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	25	3634	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1136					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3407T>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344527	0.82022	.	.	ENSG00000156395	ENST00000369701	T	0.16457	2.34	5.93	4.81	0.61882	.	0.130935	0.50627	D	0.000102	T	0.20536	0.0494	L	0.42245	1.32	0.38620	D	0.951115	P	0.46656	0.882	P	0.47573	0.55	T	0.03077	-1.1075	9	.	.	.	.	11.9097	0.52733	0.0:0.0674:0.0:0.9326	.	1136	Q9UPU3	SORC3_HUMAN	A	1136	ENSP00000358715:V1136A	.	V	+	2	0	SORCS3	107006636	1.000000	0.71417	0.623000	0.29173	0.985000	0.73830	7.606000	0.82863	1.089000	0.41292	0.533000	0.62120	GTT		0.418	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		12	21	0	0	0	1	0	12	21				
SNX27	81609	broad.mit.edu	37	1	151664940	151664940	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151664940C>A	ENST00000458013.2	+	9	1389	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G	SNX27_ENST00000368843.3_Silent_p.G423G|SNX27_ENST00000368838.1_Silent_p.G330G			Q96L92	SNX27_HUMAN	sorting nexin family member 27	423					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTGAGGGCTACAATGAAA	0.413																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(1267-1269)ggC>ggA		sorting nexin family member 27							98.0	79.0	86.0					1																	151664940		2203	4300	6503	SO:0001819	synonymous_variant	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151664940C>A	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1269C>A	1.37:g.151664940C>A						SNX27_ENST00000458013.2_Silent_p.G423G|SNX27_ENST00000368838.1_Silent_p.G330G	p.G423G	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		9	1389	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		423					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37	c.1269C>A																																																																																					0.413	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		5	32	1	0	1	1	1	5	32				
PDS5A	23244	broad.mit.edu	37	4	39924325	39924325	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39924325T>C	ENST00000303538.8	-	6	1110	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PDS5A_ENST00000503396.1_Missense_Mutation_p.M191V	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAGAACTCATCAAATCTAGC	0.333																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(571-573)Atg>Gtg		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							125.0	112.0	116.0					4																	39924325		1871	4101	5972	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39924325T>C	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.571A>G	4.37:g.39924325T>C	ENSP00000303427:p.Met191Val					PDS5A_ENST00000503396.1_Missense_Mutation_p.M191V	p.M191V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			6	1110	-			191						Missense_Mutation	SNP	ENST00000303538.8	37	c.571A>G	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.209566	0.79240	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.66460	-0.03;-0.21	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	L	0.58669	1.825	0.80722	D	1	P;D	0.57257	0.732;0.979	P;D	0.75484	0.458;0.986	T	0.78054	-0.2354	9	.	.	.	-16.6373	16.3473	0.83146	0.0:0.0:0.0:1.0	.	191;191	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	V	191	ENSP00000303427:M191V;ENSP00000426749:M191V	.	M	-	1	0	PDS5A	39600720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.320000	0.78422	0.528000	0.53228	ATG		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		7	19	0	0	0	1	0	7	19				
RAB11FIP1	80223	broad.mit.edu	37	8	37732659	37732659	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37732659C>A	ENST00000330843.4	-	3	1008	c.996G>T	c.(994-996)aaG>aaT	p.K332N	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.K332N	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	332				EAK -> QPT (in Ref. 1; AAM09571). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGATCTCACCCTTGGCTTCTG	0.517																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(994-996)aaG>aaT		RAB11 family interacting protein 1 (class I)							282.0	280.0	281.0					8																	37732659		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732659C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.996G>T	8.37:g.37732659C>A	ENSP00000331342:p.Lys332Asn					RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.K332N|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.K184N	p.K332N	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1008	-		Lung NSC(58;0.118)|all_lung(54;0.195)	332	EAK -> QPT (in Ref. 1; AAM09571).				J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.996G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515483	0.44763	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.24	3.18	0.36537	.	0.333992	0.25436	N	0.030684	T	0.39600	0.1084	L	0.54323	1.7	0.22996	N	0.998458	P;P;P;D	0.71674	0.933;0.944;0.928;0.998	B;P;P;P	0.53954	0.395;0.714;0.503;0.738	T	0.19128	-1.0315	10	0.48119	T	0.1	-16.9797	4.4874	0.11797	0.0:0.5596:0.0:0.4404	.	184;184;332;332	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	N	332;332;184;184	ENSP00000287263:K332N;ENSP00000331342:K332N;ENSP00000430009:K184N;ENSP00000430680:K184N	ENSP00000287263:K332N	K	-	3	2	RAB11FIP1	37851817	0.982000	0.34865	0.088000	0.20740	0.321000	0.28281	2.251000	0.43187	1.211000	0.43351	0.655000	0.94253	AAG		0.517	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		30	375	1	0	9.04072e-19	1	1.18089e-18	30	375				
RCAN3	11123	broad.mit.edu	37	1	24840983	24840983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24840983G>A	ENST00000374395.4	+	2	434	c.121G>A	c.(121-123)Gat>Aat	p.D41N	RCAN3_ENST00000538532.1_Missense_Mutation_p.D41N|RCAN3_ENST00000412742.2_Missense_Mutation_p.D41N|RCAN3_ENST00000436717.2_Missense_Mutation_p.D41N|RCAN3_ENST00000374393.2_Missense_Mutation_p.D41N	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	41					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGAGATGATGGATTTAAGTGA	0.438																																						ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(121-123)Gat>Aat		RCAN family member 3							207.0	180.0	189.0					1																	24840983		2203	4300	6503	SO:0001583	missense	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24840983G>A		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.121G>A	1.37:g.24840983G>A	ENSP00000363516:p.Asp41Asn					RCAN3_ENST00000374393.2_Missense_Mutation_p.D41N|RCAN3_ENST00000538532.1_Missense_Mutation_p.D41N|RCAN3_ENST00000436717.2_Missense_Mutation_p.D41N|RCAN3_ENST00000412742.2_Missense_Mutation_p.D41N	p.D41N	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	2	434	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	41					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.121G>A	CCDS254.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162820	0.94727	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000425530;ENST00000412742;ENST00000538532;ENST00000374393	T;T;T	0.56941	0.85;0.89;0.43	5.48	5.48	0.80851	.	0.099129	0.64402	D	0.000002	T	0.64494	0.2603	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.998;0.997	D;D;D;D;D	0.87578	0.998;0.98;0.996;0.995;0.989	T	0.67268	-0.5713	10	0.87932	D	0	-24.0838	17.5915	0.87998	0.0:0.0:1.0:0.0	.	41;41;41;41;41	E7EWD8;E7ENV1;A4GU14;Q9UKA8-2;Q9UKA8	.;.;.;.;RCAN3_HUMAN	N	41	ENSP00000363516:D41N;ENSP00000414447:D41N;ENSP00000445401:D41N	ENSP00000363514:D41N	D	+	1	0	RCAN3	24713570	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.811000	0.91954	2.579000	0.87056	0.586000	0.80456	GAT		0.438	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			4	60	0	0	0	1	0	4	60				
MUC16	94025	broad.mit.edu	37	19	9074008	9074008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9074008C>T	ENST00000397910.4	-	3	13641	c.13438G>A	c.(13438-13440)Gtt>Att	p.V4480I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4482	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCGCAGAAACAGGAGAGGAT	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13438-13440)Gtt>Att		mucin 16, cell surface associated							138.0	131.0	133.0					19																	9074008		2027	4174	6201	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074008C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13438G>A	19.37:g.9074008C>T	ENSP00000381008:p.Val4480Ile						p.V4480I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13641	-			4482			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13438G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.481	0.273846	0.10403	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	2.22	-2.3	0.06785	.	.	.	.	.	T	0.19765	0.0475	L	0.38175	1.15	.	.	.	P	0.35481	0.504	B	0.36885	0.235	T	0.30031	-0.9992	8	0.87932	D	0	.	10.1404	0.42732	0.0:0.2862:0.7138:0.0	.	4480	B5ME49	.	I	4480	ENSP00000381008:V4480I	ENSP00000381008:V4480I	V	-	1	0	MUC16	8935008	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.234000	0.02931	-0.335000	0.08451	0.313000	0.20887	GTT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	76	0	0	0	1	0	10	76				
EPHB1	2047	broad.mit.edu	37	3	134881021	134881021	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134881021C>T	ENST00000398015.3	+	7	1954	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	EPHB1_ENST00000493838.1_Splice_Site_p.D89D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	528	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCTGACTGACGGTAAGGGTC	0.562																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.e7+1		EPH receptor B1							79.0	84.0	82.0					3																	134881021		2145	4267	6412	SO:0001630	splice_region_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134881021C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1585+1C>T	3.37:g.134881021C>T						EPHB1_ENST00000493838.1_Splice_Site_p.D89_splice	p.D528_splice	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			7	1954	+			528					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Splice_Site	SNP	ENST00000398015.3	37	c.1585_splice	CCDS46921.1																																																																																				0.562	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	Silent	18	34	0	0	0	1	0	18	34				
GPAA1	8733	broad.mit.edu	37	8	145139718	145139718	+	Silent	SNP	C	C	T	rs371058225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139718C>T	ENST00000355091.4	+	8	1225	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_ENST00000361036.6_Silent_p.F308F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	368					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607																																						ENST00000355091.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19						c.(1102-1104)ttC>ttT		glycosylphosphatidylinositol anchor attachment 1		C		0,4014		0,0,2007	104.0	113.0	110.0		1104	1.0	1.0	8		110	1,8363		0,1,4181	no	coding-synonymous	GPAA1	NM_003801.3		0,1,6188	TT,TC,CC		0.012,0.0,0.0081		368/622	145139718	1,12377	2007	4182	6189	SO:0001819	synonymous_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145139718C>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1104C>T	8.37:g.145139718C>T						GPAA1_ENST00000361036.6_Silent_p.F308F	p.F368F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	1225	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		368					Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	c.1104C>T	CCDS43776.1																																																																																				0.607	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		24	69	0	0	0	1	0	24	69				
IQSEC3	440073	broad.mit.edu	37	12	266718	266718	+	Silent	SNP	C	C	T	rs375273357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266718C>T	ENST00000538872.1	+	7	2419	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	IQSEC3_ENST00000382841.2_Silent_p.P464P|IQSEC3_ENST00000326261.4_Silent_p.P767P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	767	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGTGCAACCCCGAAGTGGTTC	0.627																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2299-2301)ccC>ccT		IQ motif and Sec7 domain 3		C	,	0,4406		0,0,2203	228.0	158.0	182.0		2301,1392	-7.5	0.9	12		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IQSEC3	NM_001170738.1,NM_015232.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	767/1183,464/760	266718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266718C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2301C>T	12.37:g.266718C>T						IQSEC3_ENST00000382841.2_Silent_p.P464P|IQSEC3_ENST00000326261.4_Silent_p.P767P	p.P767P			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	7	2419	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		767			SEC7.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2301C>T	CCDS53728.1																																																																																				0.627	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		21	36	0	0	0	1	0	21	36				
MRGPRD	116512	broad.mit.edu	37	11	68747524	68747524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68747524G>A	ENST00000309106.3	-	1	931	c.932C>T	c.(931-933)aCg>aTg	p.T311M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	311						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACGGTGGGCGTCTCCCCACC	0.687																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(931-933)aCg>aTg		MAS-related GPR, member D							24.0	30.0	28.0					11																	68747524		2138	4166	6304	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747524G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.932C>T	11.37:g.68747524G>A	ENSP00000310631:p.Thr311Met						p.T311M	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	931	-			311					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.932C>T	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232119	0.39498	.	.	ENSG00000172938	ENST00000309106	T	0.04156	3.69	4.55	-1.0	0.10196	.	2.516540	0.04132	U	0.318074	T	0.03520	0.0101	L	0.33485	1.01	0.09310	N	1	P	0.37141	0.584	B	0.22601	0.04	T	0.40590	-0.9555	10	0.45353	T	0.12	-5.1266	4.8836	0.13692	0.3973:0.0:0.465:0.1377	.	311	Q8TDS7	MRGRD_HUMAN	M	311	ENSP00000310631:T311M	ENSP00000310631:T311M	T	-	2	0	MRGPRD	68504100	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.131000	0.15870	-0.198000	0.10333	-0.444000	0.05651	ACG		0.687	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		29	54	0	0	0	1	0	29	54				
RBM15	64783	broad.mit.edu	37	1	110884569	110884569	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110884569C>T	ENST00000369784.3	+	1	3442	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	RBM15_ENST00000487146.2_Missense_Mutation_p.R848C|RBM15_ENST00000602849.1_Missense_Mutation_p.R848C|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	848	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTAACTCGACGCATCAAAGT	0.532			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(2542-2544)Cgc>Tgc		RNA binding motif protein 15							108.0	107.0	107.0					1																	110884569		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884569C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2542C>T	1.37:g.110884569C>T	ENSP00000358799:p.Arg848Cys					RBM15_ENST00000487146.2_Missense_Mutation_p.R848C|RBM15_ENST00000602849.1_Missense_Mutation_p.R848C	p.R848C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3442	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	848			SPOC.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.2542C>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216545	0.79352	.	.	ENSG00000162775	ENST00000369784	T	0.37411	1.2	5.25	5.25	0.73442	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	0.143636	0.32444	N	0.006094	T	0.60792	0.2296	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.68112	-0.5495	10	0.87932	D	0	-7.4071	18.816	0.92077	0.0:1.0:0.0:0.0	.	848;848	Q96T37-3;Q96T37	.;RBM15_HUMAN	C	848	ENSP00000358799:R848C	ENSP00000358799:R848C	R	+	1	0	RBM15	110686092	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.757000	0.85209	2.461000	0.83175	0.655000	0.94253	CGC		0.532	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		11	98	0	0	0	1	0	11	98				
GMPPB	29925	broad.mit.edu	37	3	49760894	49760894	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49760894G>A	ENST00000480687.1	-	3	257	c.141C>T	c.(139-141)gaC>gaT	p.D47D	GMPPB_ENST00000308375.6_Silent_p.D47D|GMPPB_ENST00000308388.6_Silent_p.D47D|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	47					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGATCACGTGGTCCACGCCTG	0.627																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(139-141)gaC>gaT		GDP-mannose pyrophosphorylase B							77.0	76.0	77.0					3																	49760894		2203	4300	6503	SO:0001819	synonymous_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49760894G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.141C>T	3.37:g.49760894G>A						GMPPB_ENST00000308388.6_Silent_p.D47D|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.D47D	p.D47D			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	257	-			47					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.141C>T	CCDS2803.1																																																																																				0.627	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		13	28	0	0	0	1	0	13	28				
KIAA1524	57650	broad.mit.edu	37	3	108285442	108285442	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108285442G>T	ENST00000295746.8	-	11	1393	c.1317C>A	c.(1315-1317)atC>atA	p.I439I	KIAA1524_ENST00000491772.1_Silent_p.I280I|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	439					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTTGTCAAGATTTTTGCAA	0.318																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1315-1317)atC>atA		KIAA1524							145.0	146.0	146.0					3																	108285442		2202	4299	6501	SO:0001819	synonymous_variant	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108285442G>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1317C>A	3.37:g.108285442G>T						KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Silent_p.I280I	p.I439I	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			11	1393	-			439					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	ENST00000295746.8	37	c.1317C>A	CCDS33812.1																																																																																				0.318	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		4	82	1	0	0.000602214	1	0.000649039	4	82				
NTSR1	4923	broad.mit.edu	37	20	61391456	61391456	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61391456A>G	ENST00000370501.3	+	4	1465	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	365					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ATCCTGTACAACCTCGTCTCT	0.587																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(1093-1095)aAc>aGc		neurotensin receptor 1 (high affinity)							251.0	207.0	222.0					20																	61391456		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61391456A>G		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1094A>G	20.37:g.61391456A>G	ENSP00000359532:p.Asn365Ser					NTSR1_ENST00000482259.1_3'UTR	p.N365S	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		4	1465	+	Breast(26;3.65e-08)		365					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.1094A>G	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654659	0.88056	.	.	ENSG00000101188	ENST00000370501	T	0.34472	1.36	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.32530	0.975	0.49130	D	0.999754	D	0.76494	0.999	D	0.80764	0.994	T	0.49826	-0.8898	10	0.56958	D	0.05	-39.6053	14.2268	0.65866	1.0:0.0:0.0:0.0	.	365	P30989	NTR1_HUMAN	S	365	ENSP00000359532:N365S	ENSP00000359532:N365S	N	+	2	0	NTSR1	60861901	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.866000	0.92307	1.748000	0.51833	0.529000	0.55759	AAC		0.587	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			39	70	0	0	0	1	0	39	70				
TAF9	6880	broad.mit.edu	37	5	68648055	68648055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68648055C>A	ENST00000380822.4	-	5	403	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	TAF9_ENST00000380818.3_Missense_Mutation_p.D115Y|TAF9_ENST00000512561.1_Missense_Mutation_p.D87Y|TAF9_ENST00000502819.1_5'UTR	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TGAATATTGTCTGTTAGTTTC	0.383																																						ENST00000380822.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(352-354)Gac>Tac		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							79.0	73.0	75.0					5																	68648055		2203	4300	6503	SO:0001583	missense	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68648055C>A	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.352G>T	5.37:g.68648055C>A	ENSP00000370201:p.Asp118Tyr					TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.D115Y|TAF9_ENST00000512561.1_Missense_Mutation_p.D87Y	p.D118Y	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	5	403	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	118					D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000380822.4	37	c.352G>T	CCDS4001.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147243	0.77888	.	.	ENSG00000085231	ENST00000380822;ENST00000380818;ENST00000512561	.	.	.	5.48	5.48	0.80851	.	0.056969	0.64402	U	0.000002	T	0.74981	0.3788	M	0.74467	2.265	0.80722	D	1	D;D	0.57571	0.976;0.98	P;P	0.54815	0.649;0.761	T	0.77827	-0.2443	9	0.62326	D	0.03	-0.0356	18.1389	0.89631	0.0:1.0:0.0:0.0	.	115;118	Q9Y3D8-2;Q9Y3D8	.;KAD6_HUMAN	Y	118;115;87	.	ENSP00000370197:D115Y	D	-	1	0	TAF9	68683811	1.000000	0.71417	0.417000	0.26559	0.908000	0.53690	4.786000	0.62425	2.587000	0.87381	0.462000	0.41574	GAC		0.383	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216793.1	NM_003187		4	46	1	0	1.23904e-05	1	1.39987e-05	4	46				
LUC7L3	51747	broad.mit.edu	37	17	48821079	48821079	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48821079G>T	ENST00000505658.1	+	6	628	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	LUC7L3_ENST00000393227.2_Missense_Mutation_p.G147W|LUC7L3_ENST00000240304.1_Missense_Mutation_p.G147W|LUC7L3_ENST00000544170.1_Missense_Mutation_p.G71W			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	147					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TGAAGAATTAGGGTCTGAAGG	0.378																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(439-441)Ggg>Tgg		LUC7-like 3 (S. cerevisiae)							71.0	72.0	72.0					17																	48821079		2203	4300	6503	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48821079G>T		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.439G>T	17.37:g.48821079G>T	ENSP00000425092:p.Gly147Trp					LUC7L3_ENST00000240304.1_Missense_Mutation_p.G147W|LUC7L3_ENST00000393227.2_Missense_Mutation_p.G147W|LUC7L3_ENST00000544170.1_Missense_Mutation_p.G71W	p.G147W			O95232	LC7L3_HUMAN			6	628	+			147					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.439G>T	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529782	0.85706	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.62498	1.29;1.29;1.29;0.02	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87967	0.2734	10	0.87932	D	0	-29.1772	19.7268	0.96166	0.0:0.0:1.0:0.0	.	71;147;147	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	W	147;147;147;147;71	ENSP00000425092:G147W;ENSP00000376919:G147W;ENSP00000240304:G147W;ENSP00000444253:G71W	ENSP00000240304:G147W	G	+	1	0	LUC7L3	46176078	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.813000	0.99286	2.727000	0.93392	0.563000	0.77884	GGG		0.378	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		4	35	1	0	0.150653	1	0.152692	4	35				
HSPA2	3306	broad.mit.edu	37	14	65008248	65008248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65008248C>T	ENST00000394709.1	+	2	757	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA2_ENST00000247207.6_Silent_p.G227G|HSPA2_ENST00000554883.1_3'UTR|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	227					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCACGGCCGGCGACACCCACC	0.602																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(679-681)ggC>ggT		heat shock 70kDa protein 2							62.0	66.0	65.0					14																	65008248		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008248C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.681C>T	14.37:g.65008248C>T						HSPA2_ENST00000394709.1_Silent_p.G227G|HSPA2_ENST00000554883.1_3'UTR	p.G227G	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1063	+			227					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.681C>T	CCDS9766.1																																																																																				0.602	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			25	54	0	0	0	1	0	25	54				
SLC26A6	65010	broad.mit.edu	37	3	48669381	48669381	+	Missense_Mutation	SNP	C	C	T	rs387907498		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48669381C>T	ENST00000395550.2	-	6	729	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	SLC26A6_ENST00000455886.2_Missense_Mutation_p.R193H|SLC26A6_ENST00000358747.6_Missense_Mutation_p.V207I|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V228I|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V228I			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	228					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCTGTGAGACGAAGACCTGC	0.582																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(619-621)Gtc>Atc		solute carrier family 26 (anion exchanger), member 6							73.0	80.0	78.0					3																	48669381		2096	4210	6306	SO:0001583	missense	65010							g.chr3:48669381C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.682G>A	3.37:g.48669381C>T	ENSP00000378920:p.Val228Ile					SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V228I|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R193H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V228I|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V228I	p.V207I	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	5	869	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.619G>A	CCDS43087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.993869|1.993869	0.35131|0.35131	.|.	.|.	ENSG00000225697|ENSG00000225697	ENST00000455886;ENST00000431739|ENST00000420764;ENST00000395550;ENST00000383733;ENST00000447978;ENST00000358747;ENST00000421649	D;D|D;D;D;D;D	0.92752|0.92699	-3.1;-2.84|-3.09;-3.09;-3.09;-3.09;-3.09	4.78|4.78	1.88|1.88	0.25563|0.25563	.|Sulphate transporter (1);	.|.	.|.	.|.	.|.	D|D	0.85265|0.85265	0.5657|0.5657	L|L	0.33753|0.33753	1.03|1.03	0.30108|0.30108	N|N	0.806822|0.806822	B|B;B;B;B;B	0.13594|0.24963	0.008|0.065;0.023;0.052;0.115;0.013	B|B;B;B;B;B	0.08055|0.24701	0.003|0.044;0.026;0.044;0.055;0.018	T|T	0.74642|0.74642	-0.3597|-0.3597	9|9	0.41790|0.24483	T|T	0.15|0.36	.|.	7.8294|7.8294	0.29334|0.29334	0.0:0.552:0.0:0.448|0.0:0.552:0.0:0.448	.|.	193|241;228;228;228;3633	B4DMZ1|Q86YZ4;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.|.;.;.;S26A6_HUMAN;.	H|I	193;177|228;228;228;241;207;74	ENSP00000401066:R193H;ENSP00000401813:R177H|ENSP00000404684:V228I;ENSP00000378920:V228I;ENSP00000373239:V228I;ENSP00000351597:V207I;ENSP00000389922:V74I	ENSP00000401813:R177H|ENSP00000351597:V207I	R|V	-|-	2|1	0|0	SLC26A6|SLC26A6	48644385|48644385	0.000000|0.000000	0.05858|0.05858	0.960000|0.960000	0.40013|0.40013	0.986000|0.986000	0.74619|0.74619	-0.295000|-0.295000	0.08298|0.08298	0.189000|0.189000	0.20188|0.20188	0.563000|0.563000	0.77884|0.77884	CGT|GTC		0.582	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		21	35	0	0	0	1	0	21	35				
HPGDS	27306	broad.mit.edu	37	4	95255669	95255669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95255669C>T	ENST00000295256.5	-	2	202	c.112G>A	c.(112-114)Gac>Aac	p.D38N	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	38	GST N-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCAGGCCAGTCAGCTTGTTCT	0.318																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(112-114)Gac>Aac		hematopoietic prostaglandin D synthase	Glutathione(DB00143)						141.0	138.0	139.0					4																	95255669		2203	4299	6502	SO:0001583	missense	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95255669C>T	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.112G>A	4.37:g.95255669C>T	ENSP00000295256:p.Asp38Asn					HPGDS_ENST00000514774.1_5'UTR	p.D38N	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN			2	202	-			38			GST N-terminal.		Q6FHT9	Missense_Mutation	SNP	ENST00000295256.5	37	c.112G>A	CCDS3640.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226377	0.79576	.	.	ENSG00000163106	ENST00000295256	T	0.07800	3.16	5.47	5.47	0.80525	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.071579	0.56097	D	0.000026	T	0.20780	0.0500	L	0.47016	1.485	0.51767	D	0.999937	D	0.62365	0.991	P	0.61533	0.89	T	0.00098	-1.2069	10	0.45353	T	0.12	.	16.8241	0.85926	0.0:1.0:0.0:0.0	.	38	O60760	HPGDS_HUMAN	N	38	ENSP00000295256:D38N	ENSP00000295256:D38N	D	-	1	0	HPGDS	95474692	0.881000	0.30235	1.000000	0.80357	0.990000	0.78478	1.379000	0.34340	2.569000	0.86673	0.655000	0.94253	GAC		0.318	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		24	38	0	0	0	1	0	24	38				
TFAP2D	83741	broad.mit.edu	37	6	50683315	50683315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50683315G>T	ENST00000008391.3	+	2	754	c.526G>T	c.(526-528)Gac>Tac	p.D176Y		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCGGGAGCAGACGACTTGCA	0.602																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(526-528)Gac>Tac		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							45.0	52.0	50.0					6																	50683315		2148	4200	6348	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683315G>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.526G>T	6.37:g.50683315G>T	ENSP00000008391:p.Asp176Tyr						p.D176Y	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	754	+	Lung NSC(77;0.0334)		176						Missense_Mutation	SNP	ENST00000008391.3	37	c.526G>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590567	0.66219	.	.	ENSG00000008197	ENST00000008391	D	0.97328	-4.34	5.06	4.2	0.49525	.	0.423244	0.27231	N	0.020301	D	0.89849	0.6834	N	0.08118	0	0.80722	D	1	P	0.36959	0.575	B	0.40410	0.328	D	0.91283	0.5053	10	0.72032	D	0.01	0.0059	13.7587	0.62952	0.0746:0.0:0.9254:0.0	.	176	Q7Z6R9	AP2D_HUMAN	Y	176	ENSP00000008391:D176Y	ENSP00000008391:D176Y	D	+	1	0	TFAP2D	50791274	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.502000	0.97981	1.268000	0.44264	-0.136000	0.14681	GAC		0.602	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		44	42	1	0	1.72184e-34	1	2.31481e-34	44	42				
KRT80	144501	broad.mit.edu	37	12	52566080	52566080	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52566080C>T	ENST00000394815.2	-	7	1177	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	KRT80_ENST00000313234.5_Silent_p.A360A	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	360	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCAGCTGCCGCGCCATGTCCT	0.642																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(1078-1080)gcG>gcA		keratin 80							87.0	78.0	81.0					12																	52566080		2203	4300	6503	SO:0001819	synonymous_variant	144501					keratin filament	structural molecule activity	g.chr12:52566080C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1080G>A	12.37:g.52566080C>T						KRT80_ENST00000394815.2_Silent_p.A360A	p.A360A	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	7	1177	-			360			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	c.1080G>A	CCDS8821.2																																																																																				0.642	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		15	40	0	0	0	1	0	15	40				
NPTN	27020	broad.mit.edu	37	15	73889488	73889488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73889488C>T	ENST00000345330.4	-	2	511	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	NPTN_ENST00000287226.8_Missense_Mutation_p.R105Q|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000563691.1_Missense_Mutation_p.R105Q|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.R105Q	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	105	Ig-like 1.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAAGGTGAGCCGGGTTATTCT	0.577																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	ENST00000345330.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(313-315)cGg>cAg		neuroplastin							140.0	93.0	109.0					15																	73889488		2198	4297	6495	SO:0001583	missense	27020				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding	g.chr15:73889488C>T	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.314G>A	15.37:g.73889488C>T	ENSP00000290401:p.Arg105Gln					NPTN_ENST00000542234.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.R105Q|NPTN_ENST00000563691.1_Missense_Mutation_p.R105Q|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.R105Q|NPTN_ENST00000564551.1_Intron	p.R105Q	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN			2	511	-			105			Ig-like 1.		B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Missense_Mutation	SNP	ENST00000345330.4	37	c.314G>A	CCDS10249.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246584	0.39697	.	.	ENSG00000156642	ENST00000345330;ENST00000545878;ENST00000287226	T;T;T	0.02631	4.22;4.22;4.22	4.84	4.84	0.62591	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125720	0.56097	D	0.000040	T	0.05318	0.0141	L	0.41236	1.265	0.49389	D	0.999784	P;P	0.52061	0.939;0.95	P;P	0.45829	0.463;0.494	T	0.45279	-0.9272	10	0.49607	T	0.09	.	18.5078	0.90904	0.0:1.0:0.0:0.0	.	105;105	Q9Y639-5;Q9Y639	.;NPTN_HUMAN	Q	105	ENSP00000290401:R105Q;ENSP00000444548:R105Q;ENSP00000287226:R105Q	ENSP00000287226:R105Q	R	-	2	0	NPTN	71676541	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.015000	0.49599	2.677000	0.91161	0.655000	0.94253	CGG		0.577	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428		11	29	0	0	0	1	0	11	29				
GPR112	139378	broad.mit.edu	37	X	135429126	135429126	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135429126C>T	ENST00000394143.1	+	6	3552	c.3261C>T	c.(3259-3261)acC>acT	p.T1087T	GPR112_ENST00000394141.1_Silent_p.T882T|GPR112_ENST00000287534.4_Silent_p.T1024T|GPR112_ENST00000370652.1_Silent_p.T1087T|GPR112_ENST00000412101.1_Silent_p.T882T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1087					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGATTCGTACCACTTCAGAGG	0.468																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3259-3261)acC>acT		G protein-coupled receptor 112							205.0	185.0	192.0					X																	135429126		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429126C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3261C>T	X.37:g.135429126C>T						GPR112_ENST00000412101.1_Silent_p.T882T|GPR112_ENST00000370652.1_Silent_p.T1087T|GPR112_ENST00000287534.4_Silent_p.T1024T|GPR112_ENST00000394141.1_Silent_p.T882T	p.T1087T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3552	+	Acute lymphoblastic leukemia(192;0.000127)		1087					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.3261C>T	CCDS35409.1																																																																																				0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			88	143	0	0	0	1	0	88	143				
NSF	4905	broad.mit.edu	37	17	44806225	44806225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44806225C>T	ENST00000398238.4	+	17	1940	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	NSF_ENST00000225282.8_Silent_p.Y517Y|NSF_ENST00000575068.1_Silent_p.Y606Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	611					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)	p.Y611Y(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCCAGATTACGTCCCTATTG	0.318																																					Ovarian(25;472 742 1472 36813 50223)	ENST00000398238.4																			1	Substitution - coding silent(1)	p.Y611Y(1)	lung(1)	kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1831-1833)taC>taT		N-ethylmaleimide-sensitive factor							129.0	113.0	118.0					17																	44806225		1814	4071	5885	SO:0001819	synonymous_variant	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44806225C>T		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1833C>T	17.37:g.44806225C>T						NSF_ENST00000225282.8_Silent_p.Y517Y|NSF_ENST00000575068.1_Silent_p.Y606Y	p.Y611Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	17	1940	+		Melanoma(429;0.203)	611					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	37	c.1833C>T	CCDS42354.1																																																																																				0.318	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		26	52	0	0	0	1	0	26	52				
KRT79	338785	broad.mit.edu	37	12	53218122	53218122	+	Missense_Mutation	SNP	C	C	T	rs200984962		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53218122C>T	ENST00000330553.5	-	5	914	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	294	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGTTAGACACGTGGGTCTGC	0.582																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(880-882)Gtg>Atg		keratin 79							89.0	66.0	74.0					12																	53218122		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53218122C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.880G>A	12.37:g.53218122C>T	ENSP00000328358:p.Val294Met						p.V294M	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			5	914	-			294			Linker 12.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.880G>A	CCDS8839.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.25	3.583049	0.65992	.	.	ENSG00000185640	ENST00000330553	T	0.77358	-1.09	4.02	2.17	0.27698	Filament (1);	0.000000	0.44688	D	0.000434	T	0.68274	0.2983	L	0.52126	1.63	0.33804	D	0.627088	P	0.48089	0.905	B	0.40375	0.327	T	0.75255	-0.3382	10	0.87932	D	0	.	7.6694	0.28449	0.0:0.7186:0.0:0.2814	.	294	Q5XKE5	K2C79_HUMAN	M	294	ENSP00000328358:V294M	ENSP00000328358:V294M	V	-	1	0	KRT79	51504389	0.000000	0.05858	0.783000	0.31826	0.940000	0.58332	0.090000	0.15025	0.643000	0.30638	0.511000	0.50034	GTG		0.582	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		4	34	0	0	0	1	0	4	34				
CNTROB	116840	broad.mit.edu	37	17	7849174	7849174	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7849174C>T	ENST00000563694.1	+	13	2788	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.D621D|CNTROB_ENST00000380262.3_Silent_p.D621D	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	621	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGCAAGGGACGAGCTACCTG	0.607																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1861-1863)gaC>gaT		centrobin, centrosomal BRCA2 interacting protein							124.0	117.0	119.0					17																	7849174		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7849174C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1863C>T	17.37:g.7849174C>T						CNTROB_ENST00000563694.1_Silent_p.D621D|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.D621D	p.D621D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			13	2788	+		Prostate(122;0.173)	621			Pro-rich.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.1863C>T	CCDS11126.1																																																																																				0.607	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		36	85	0	0	0	1	0	36	85				
TRAM1	23471	broad.mit.edu	37	8	71495549	71495549	+	Missense_Mutation	SNP	G	G	T	rs145093693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71495549G>T	ENST00000262213.2	-	10	1070	c.901C>A	c.(901-903)Ctg>Atg	p.L301M	TRAM1_ENST00000521425.1_Missense_Mutation_p.L215M|TRAM1_ENST00000536748.1_Missense_Mutation_p.L270M|TRAM1_ENST00000521049.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	301	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGGATGCCAGAACAGCGATT	0.343																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(643-645)Ctg>Atg		translocation associated membrane protein 1							71.0	65.0	67.0					8																	71495549		2203	4300	6503	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71495549G>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.901C>A	8.37:g.71495549G>T	ENSP00000262213:p.Leu301Met					TRAM1_ENST00000536748.1_Missense_Mutation_p.L270M|TRAM1_ENST00000262213.2_Missense_Mutation_p.L301M	p.L215M			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		10	1679	-			301			TLC.		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.643C>A	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358781	0.61403	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.87887	-2.31;-2.31;-2.31	5.18	3.4	0.38934	TRAM/LAG1/CLN8 homology domain (3);	0.142711	0.49305	D	0.000160	D	0.90861	0.7129	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89347	0.3658	10	0.49607	T	0.09	.	9.8031	0.40777	0.2205:0.0:0.7795:0.0	.	301	Q15629	TRAM1_HUMAN	M	215;301;270	ENSP00000428052:L215M;ENSP00000262213:L301M;ENSP00000439359:L270M	ENSP00000262213:L301M	L	-	1	2	TRAM1	71658103	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	4.804000	0.62554	0.777000	0.33496	0.563000	0.77884	CTG		0.343	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		14	20	1	0	4.36969e-10	1	5.35656e-10	14	20				
TUBGCP2	10844	broad.mit.edu	37	10	135102452	135102452	+	Missense_Mutation	SNP	G	G	A	rs370515445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135102452G>A	ENST00000252936.3	-	9	1472	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.T71M|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.T478M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.T348M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.T506M			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	478					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTCTTTTAACGTGTAGATGAT	0.478																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1432-1434)aCg>aTg		tubulin, gamma complex associated protein 2		G	MET/THR	0,4406		0,0,2203	181.0	141.0	155.0		1433	5.2	1.0	10		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBGCP2	NM_006659.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	478/903	135102452	1,13005	2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135102452G>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1433C>T	10.37:g.135102452G>A	ENSP00000252936:p.Thr478Met					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.T478M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.T348M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.T71M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.T506M	p.T478M	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	10	1789	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	478					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1433C>T	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169734	0.78452	0.0	1.16E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72625	0.94;0.978;0.978	T	0.02698	-1.1122	10	0.38643	T	0.18	-32.9992	17.6603	0.88191	0.0:0.0:1.0:0.0	.	506;506;478	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	M	478;348;478;71;506	ENSP00000252936:T478M;ENSP00000395666:T348M;ENSP00000357551:T478M;ENSP00000357550:T71M;ENSP00000446093:T506M	ENSP00000252936:T478M	T	-	2	0	TUBGCP2	134952442	1.000000	0.71417	0.954000	0.39281	0.927000	0.56198	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	ACG		0.478	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			16	40	0	0	0	1	0	16	40				
METTL16	79066	broad.mit.edu	37	17	2323299	2323299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2323299G>A	ENST00000263092.6	-	10	1781	c.1654C>T	c.(1654-1656)Cgt>Tgt	p.R552C	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.R334C	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	552							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATTTGGTTACGTATGTAGGTG	0.473																																						ENST00000263092.5																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1654-1656)Cgt>Tgt		methyltransferase like 16							93.0	93.0	93.0					17																	2323299		2021	4176	6197	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2323299G>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1654C>T	17.37:g.2323299G>A	ENSP00000263092:p.Arg552Cys					METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.R334C	p.R552C	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN			10	1781	-			552					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.1654C>T	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039000	0.55003	.	.	ENSG00000127804	ENST00000263092;ENST00000538844	T;T	0.52983	0.73;0.64	5.92	5.92	0.95590	.	0.107337	0.64402	D	0.000007	T	0.62998	0.2474	L	0.59436	1.845	0.54753	D	0.99998	D	0.89917	1.0	P	0.59288	0.855	T	0.64011	-0.6507	10	0.87932	D	0	-6.2638	17.8145	0.88627	0.0:0.0:1.0:0.0	.	552	Q86W50	MET16_HUMAN	C	552;334	ENSP00000263092:R552C;ENSP00000443633:R334C	ENSP00000263092:R552C	R	-	1	0	METTL16	2270049	0.998000	0.40836	0.940000	0.37924	0.243000	0.25628	3.187000	0.50950	2.813000	0.96785	0.561000	0.74099	CGT		0.473	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		5	65	0	0	0	1	0	5	65				
IFNA21	3452	broad.mit.edu	37	9	21166323	21166323	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21166323A>G	ENST00000380225.1	-	1	336	c.289T>C	c.(289-291)Tct>Cct	p.S97P		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	97					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTAGCAGATGAGTCCTTT	0.498																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(289-291)Tct>Cct		interferon, alpha 21							121.0	124.0	123.0					9																	21166323		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166323A>G		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.289T>C	9.37:g.21166323A>G	ENSP00000369574:p.Ser97Pro						p.S97P	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	336	-			97					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.289T>C	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	9.921	1.212216	0.22289	.	.	ENSG00000137080	ENST00000380225	T	0.05996	3.36	4.02	0.113	0.14631	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.046620	0.07464	N	0.901101	T	0.06826	0.0174	L	0.55743	1.74	0.09310	N	1	B	0.15930	0.015	B	0.22880	0.042	T	0.47114	-0.9142	10	0.52906	T	0.07	.	0.475	0.00538	0.33:0.2055:0.1156:0.3489	.	97	P01568	IFN21_HUMAN	P	97	ENSP00000369574:S97P	ENSP00000369574:S97P	S	-	1	0	IFNA21	21156323	0.000000	0.05858	0.034000	0.17996	0.057000	0.15508	0.265000	0.18515	0.119000	0.18210	0.524000	0.50904	TCT		0.498	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		18	114	0	0	0	1	0	18	114				
STK31	56164	broad.mit.edu	37	7	23830448	23830448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23830448G>T	ENST00000355870.3	+	22	2762	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	STK31_ENST00000354639.3_Missense_Mutation_p.Q858H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.Q881H|STK31_ENST00000428484.1_Missense_Mutation_p.Q858H	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCAGAGTCAGCGAGCCTCGG	0.378																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2572-2574)caG>caT		serine/threonine kinase 31							154.0	147.0	150.0					7																	23830448		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23830448G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2643G>T	7.37:g.23830448G>T	ENSP00000348132:p.Gln881His					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.Q858H|STK31_ENST00000355870.3_Missense_Mutation_p.Q881H|STK31_ENST00000433467.2_Missense_Mutation_p.Q881H	p.Q858H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			22	3038	+			881			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2574G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507602	0.64410	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.65549	-0.16;2.08;-0.16;-0.16	5.38	3.54	0.40534	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	L	0.54323	1.7	0.42940	D	0.994346	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74172	-0.3751	10	0.66056	D	0.02	-7.7099	11.2875	0.49230	0.1651:0.0:0.8349:0.0	.	881;881;881	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	H	881;881;858;858	ENSP00000348132:Q881H;ENSP00000411852:Q881H;ENSP00000346660:Q858H;ENSP00000406146:Q858H	ENSP00000346660:Q858H	Q	+	3	2	STK31	23796973	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.821000	0.39041	2.510000	0.84645	0.557000	0.71058	CAG		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		6	74	1	0	1.6384e-10	1	2.02096e-10	6	74				
FOLH1B	219595	broad.mit.edu	37	11	89392808	89392808	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89392808C>T	ENST00000532352.1	+	0	631							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CGGTTGGAATCTTCCTGGAGG	0.512																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89392808C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89392808C>T										Q9HBA9	FOH1B_HUMAN			0	631	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.512	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		10	57	0	0	0	1	0	10	57				
LMO7	4008	broad.mit.edu	37	13	76395515	76395515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76395515C>T	ENST00000321797.8	+	12	2432	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	LMO7_ENST00000526202.1_Missense_Mutation_p.R421C|LMO7_ENST00000377534.3_Missense_Mutation_p.R856C|LMO7_ENST00000465261.2_Missense_Mutation_p.R571C|LMO7_ENST00000341547.4_Missense_Mutation_p.R522C|LMO7_ENST00000357063.3_Missense_Mutation_p.R856C			Q8WWI1	LMO7_HUMAN	LIM domain 7	856					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGAGAGGACCGTGTAACAAC	0.438																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2566-2568)Cgt>Tgt		LIM domain 7							105.0	102.0	103.0					13																	76395515		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76395515C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1711C>T	13.37:g.76395515C>T	ENSP00000317802:p.Arg571Cys					LMO7_ENST00000526202.1_Missense_Mutation_p.R421C|LMO7_ENST00000377534.3_Missense_Mutation_p.R856C|LMO7_ENST00000321797.8_Missense_Mutation_p.R571C|LMO7_ENST00000465261.2_Missense_Mutation_p.R571C|LMO7_ENST00000341547.4_Missense_Mutation_p.R522C	p.R856C			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	15	3826	+		Breast(118;0.0992)	856					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.2566C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.760484|2.760484	0.49468|0.49468	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|T;T;T;T;T;T;T	.|0.44881	.|1.5;1.49;1.49;0.92;0.92;0.92;0.91	5.91|5.91	-11.8|-11.8	0.00035|0.00035	.|.	.|2.474630	.|0.00822	.|N	.|0.001596	T|T	0.22044|0.22044	0.0531|0.0531	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;P;B;P	.|0.49961	.|0.113;0.057;0.83;0.034;0.93	.|B;B;B;B;P	.|0.47645	.|0.005;0.004;0.143;0.002;0.553	T|T	0.54708|0.54708	-0.8253|-0.8253	5|10	.|0.51188	.|T	.|0.08	4.9058|4.9058	3.8395|3.8395	0.08908|0.08908	0.1764:0.1588:0.4767:0.1881|0.1764:0.1588:0.4767:0.1881	.|.	.|421;522;856;571;804	.|E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.|.;.;LMO7_HUMAN;.;.	L|C	479|522;856;856;470;571;421;571	.|ENSP00000342112:R522C;ENSP00000349571:R856C;ENSP00000366757:R856C;ENSP00000366719:R470C;ENSP00000317802:R571C;ENSP00000431129:R421C;ENSP00000433352:R571C	.|ENSP00000317802:R571C	P|R	+|+	2|1	0|0	LMO7|LMO7	75293516|75293516	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.144000|0.144000	0.21451|0.21451	-0.504000|-0.504000	0.06375|0.06375	-2.498000|-2.498000	0.00512|0.00512	-0.265000|-0.265000	0.10407|0.10407	CCG|CGT		0.438	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		17	61	0	0	0	1	0	17	61				
WWC1	23286	broad.mit.edu	37	5	167891939	167891939	+	Missense_Mutation	SNP	G	G	A	rs145892564		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167891939G>A	ENST00000265293.4	+	21	3624	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	WWC1_ENST00000521089.1_Missense_Mutation_p.R1047H|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1041	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCGTTTCCGCCTGCTGCTG	0.647																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(3121-3123)cGc>cAc		WW and C2 domain containing 1		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	64.0	59.0	61.0		3140,3140,3122	5.0	1.0	5	dbSNP_134	61	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	29,29,29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	1047/1120,1047/1119,1041/1114	167891939	3,13003	2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891939G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3122G>A	5.37:g.167891939G>A	ENSP00000265293:p.Arg1041His					WWC1_ENST00000521089.1_Missense_Mutation_p.R1047H|WWC1_ENST00000522140.1_3'UTR	p.R1041H	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	21	3624	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	1041			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.3122G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678136	0.88542	0.0	3.49E-4	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.44482	0.92;0.92;0.92	5.03	5.03	0.67393	.	0.066285	0.64402	D	0.000011	T	0.58921	0.2156	M	0.72118	2.19	0.53005	D	0.999968	D;D	0.76494	0.999;0.998	P;P	0.62014	0.897;0.84	T	0.62905	-0.6755	10	0.72032	D	0.01	.	11.8325	0.52303	0.0797:0.0:0.9203:0.0	.	1047;1041	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	H	1041;1047;373	ENSP00000265293:R1041H;ENSP00000427772:R1047H;ENSP00000428084:R373H	ENSP00000265293:R1041H	R	+	2	0	WWC1	167824517	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.002000	0.88514	2.352000	0.79861	0.555000	0.69702	CGC		0.647	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		16	23	0	0	0	1	0	16	23				
PNPLA3	80339	broad.mit.edu	37	22	44328962	44328962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44328962C>A	ENST00000216180.3	+	4	864	c.691C>A	c.(691-693)Ctc>Atc	p.L231I	PNPLA3_ENST00000423180.2_Missense_Mutation_p.L227I|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	231					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCCCCCGGATCTCAAGGTGAG	0.537																																						ENST00000216180.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19						c.(691-693)Ctc>Atc		patatin-like phospholipase domain containing 3							96.0	90.0	92.0					22																	44328962		2203	4300	6503	SO:0001583	missense	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44328962C>A		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.691C>A	22.37:g.44328962C>A	ENSP00000216180:p.Leu231Ile					PNPLA3_ENST00000423180.2_Missense_Mutation_p.L227I|PNPLA3_ENST00000478713.1_3'UTR	p.L231I	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN			4	864	+		Ovarian(80;0.024)|all_neural(38;0.0416)	231					B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	c.691C>A	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	C	10.00	1.233130	0.22626	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.79033	-1.23;-1.23	5.57	-6.05	0.02172	Acyl transferase/acyl hydrolase/lysophospholipase (1);	1.817510	0.03180	N	0.171913	T	0.62865	0.2463	L	0.31476	0.935	0.80722	D	1	B	0.22276	0.067	B	0.16289	0.015	T	0.18650	-1.0330	10	0.31617	T	0.26	-3.1252	7.4801	0.27400	0.0965:0.2526:0.5281:0.1229	.	231	Q9NST1	PLPL3_HUMAN	I	231;227	ENSP00000216180:L231I;ENSP00000397987:L227I	ENSP00000216180:L231I	L	+	1	0	PNPLA3	42660295	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.197000	0.17197	-1.320000	0.02283	-0.882000	0.02950	CTC		0.537	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		23	44	1	0	4.87955e-14	1	6.21198e-14	23	44				
CYTIP	9595	broad.mit.edu	37	2	158300428	158300428	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158300428C>T	ENST00000264192.3	-	1	226	c.105G>A	c.(103-105)acG>acA	p.T35T	AC019201.1_ENST00000401235.1_RNA|CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	35					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TATCGTCCATCGTAAGGCTGC	0.507																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(103-105)acG>acA		cytohesin 1 interacting protein							176.0	153.0	161.0					2																	158300428		2203	4300	6503	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158300428C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.105G>A	2.37:g.158300428C>T						CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron	p.T35T	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			1	226	-			35					B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.105G>A	CCDS2204.1																																																																																				0.507	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		4	66	0	0	0	1	0	4	66				
KIAA1614	57710	broad.mit.edu	37	1	180910420	180910420	+	Splice_Site	SNP	C	C	T	rs528318162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180910420C>T	ENST00000367588.4	+	7	3213	c.3158C>T	c.(3157-3159)cCg>cTg	p.P1053L	KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Splice_Site_p.P674L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1053	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCCTGCACCCGGTGAGTCCA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		14170	0.001		0.0	False		,,,				2504	0.0					ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.e7+1		KIAA1614							27.0	32.0	30.0					1																	180910420		1948	4131	6079	SO:0001630	splice_region_variant	57710							g.chr1:180910420C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3159+1C>T	1.37:g.180910420C>T						KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Splice_Site_p.P674_splice	p.P1053_splice	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			7	3213	+			1053			Ser-rich.		Q5VZ45|Q9HCF8	Splice_Site	SNP	ENST00000367588.4	37	c.3159_splice	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	1.254	-0.617638	0.03663	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.15487	3.02;2.42	5.21	0.0985	0.14498	.	0.935507	0.08883	N	0.879801	T	0.03827	0.0108	N	0.00972	-1.085	0.29947	N	0.820569	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.42899	-0.9424	9	0.02654	T	1	0.1069	3.8879	0.09107	0.1483:0.2613:0.0:0.5904	.	674;1053	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	L	1053;674	ENSP00000356560:P1053L;ENSP00000356559:P674L	ENSP00000356559:P674L	P	+	2	0	KIAA1614	179177043	0.684000	0.27642	0.200000	0.23457	0.835000	0.47333	0.440000	0.21592	-0.254000	0.09500	-0.367000	0.07326	CCG		0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	Missense_Mutation	6	31	0	0	0	1	0	6	31				
KMT2C	58508	broad.mit.edu	37	7	151962266	151962266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151962266G>A	ENST00000262189.6	-	8	1259	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C	KMT2C_ENST00000355193.2_Silent_p.C347C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	347			C -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCGGGCTGTCGCACACTGCAC	0.378																																						ENST00000355193.2																			0											c.(1039-1041)tgC>tgT		lysine (K)-specific methyltransferase 2C							108.0	98.0	101.0					7																	151962266		2203	4296	6499	SO:0001819	synonymous_variant	58508							g.chr7:151962266G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1041C>T	7.37:g.151962266G>A						KMT2C_ENST00000262189.6_Silent_p.C347C	p.C347C							8	1259	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1041C>T	CCDS5931.1																																																																																				0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	185	0	0	0	1	0	9	185				
KRT84	3890	broad.mit.edu	37	12	52775247	52775247	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52775247G>A	ENST00000257951.3	-	5	1041	c.975C>T	c.(973-975)agC>agT	p.S325S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	325	Linker 12.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGGTCACGGCTGTTGTCCA	0.557																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(973-975)agC>agT		keratin 84							200.0	179.0	186.0					12																	52775247		2203	4300	6503	SO:0001819	synonymous_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52775247G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.975C>T	12.37:g.52775247G>A						RP3-416H24.4_ENST00000547174.1_RNA	p.S325S	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1041	-	all_hematologic(5;0.12)		325			Linker 12.|Rod.		B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	c.975C>T	CCDS8825.1																																																																																				0.557	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		70	106	0	0	0	1	0	70	106				
DUS3L	56931	broad.mit.edu	37	19	5788144	5788144	+	Missense_Mutation	SNP	G	G	A	rs547585549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5788144G>A	ENST00000309061.7	-	5	1082	c.986C>T	c.(985-987)gCg>gTg	p.A329V	DUS3L_ENST00000590681.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.A87V|CTB-54O9.9_ENST00000586012.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	329							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGTCACATCCGCCCCGAAGCG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18982	0.0		0.0	False		,,,				2504	0.0					ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(985-987)gCg>gTg		dihydrouridine synthase 3-like (S. cerevisiae)							55.0	52.0	53.0					19																	5788144		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5788144G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.986C>T	19.37:g.5788144G>A	ENSP00000311977:p.Ala329Val					DUS3L_ENST00000320699.8_Missense_Mutation_p.A87V	p.A329V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			5	1082	-			329					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.986C>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092991	0.56075	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.25749	1.78;1.78	3.78	3.78	0.43462	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000001	T	0.50292	0.1607	M	0.83223	2.63	0.58432	D	0.999999	D;D	0.89917	0.963;1.0	P;D	0.67900	0.742;0.954	T	0.54957	-0.8215	10	0.41790	T	0.15	-23.7017	13.1859	0.59680	0.0:0.0:1.0:0.0	.	87;329	Q96G46-3;Q96G46	.;DUS3L_HUMAN	V	329;87	ENSP00000311977:A329V;ENSP00000315558:A87V	ENSP00000311977:A329V	A	-	2	0	DUS3L	5739144	1.000000	0.71417	0.914000	0.36105	0.141000	0.21300	9.685000	0.98661	1.672000	0.50884	0.306000	0.20318	GCG		0.607	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		14	23	0	0	0	1	0	14	23				
GPR50	9248	broad.mit.edu	37	X	150348632	150348632	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150348632G>A	ENST00000218316.3	+	2	646	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	193					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.V193I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTACCATCGTCTGCATCCA	0.547																																						ENST00000218316.3																			2	Substitution - Missense(2)	p.V193I(2)	large_intestine(2)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(577-579)Gtc>Atc		G protein-coupled receptor 50							257.0	231.0	240.0					X																	150348632		2167	4241	6408	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348632G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.577G>A	X.37:g.150348632G>A	ENSP00000218316:p.Val193Ile						p.V193I	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	646	+	Acute lymphoblastic leukemia(192;6.56e-05)		193					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.577G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289747	0.59976	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.71579	-0.58	3.89	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.058936	0.64402	D	0.000002	T	0.73458	0.3589	M	0.78344	2.41	0.38581	D	0.95017	P;P	0.46512	0.879;0.877	P;B	0.47864	0.559;0.443	T	0.75241	-0.3387	10	0.49607	T	0.09	-27.9065	9.3356	0.38049	0.115:0.0:0.885:0.0	.	146;193	F5H1S3;Q13585	.;MTR1L_HUMAN	I	146;193	ENSP00000218316:V193I	ENSP00000218316:V193I	V	+	1	0	GPR50	150099290	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	7.456000	0.80751	0.765000	0.33221	-0.355000	0.07637	GTC		0.547	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		5	140	0	0	0	1	0	5	140				
RPS6KA2	6196	broad.mit.edu	37	6	166831722	166831722	+	Silent	SNP	G	G	A	rs149521975	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166831722G>A	ENST00000265678.4	-	19	2152	c.1929C>T	c.(1927-1929)gaC>gaT	p.D643D	RPS6KA2_ENST00000510118.1_Silent_p.D668D|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000481261.2_Silent_p.D554D|RPS6KA2_ENST00000503859.1_Silent_p.D651D|RPS6KA2_ENST00000509742.1_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	643	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTTAGCTGCGTCAGATATCG	0.473													g|||	3	0.000599042	0.0008	0.0014	5008	,	,		16972	0.0		0.0	False		,,,				2504	0.001					ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(2002-2004)gaC>gaT		ribosomal protein S6 kinase, 90kDa, polypeptide 2		G	,	0,4406		0,0,2203	98.0	94.0	95.0		1953,1929	-8.8	0.0	6	dbSNP_134	95	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	651/742,643/734	166831722	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166831722G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1929C>T	6.37:g.166831722G>A						RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000481261.2_Silent_p.D554D|RPS6KA2_ENST00000265678.4_Silent_p.D643D|RPS6KA2_ENST00000503859.1_Silent_p.D651D	p.D668D			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	21	2344	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	643			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.2004C>T	CCDS5294.1																																																																																				0.473	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		8	80	0	0	0	1	0	8	80				
MRPS27	23107	broad.mit.edu	37	5	71528293	71528293	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71528293G>T	ENST00000261413.5	-	7	607	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000457646.4_Missense_Mutation_p.L134M|MRPS27_ENST00000515404.1_Missense_Mutation_p.L134M|MRPS27_ENST00000513900.1_Missense_Mutation_p.L204M	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	190						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTCTTTGCCAGGCAATGAAAT	0.418																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(568-570)Ctg>Atg		mitochondrial ribosomal protein S27							89.0	84.0	85.0					5																	71528293		2203	4300	6503	SO:0001583	missense	23107					mitochondrion|ribosome		g.chr5:71528293G>T	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.568C>A	5.37:g.71528293G>T	ENSP00000261413:p.Leu190Met					MRPS27_ENST00000457646.4_Missense_Mutation_p.L134M|MRPS27_ENST00000513900.1_Missense_Mutation_p.L204M|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000515404.1_Missense_Mutation_p.L134M	p.L190M	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	7	607	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	190					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.568C>A	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714233	0.68730	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	6.06	6.06	0.98353	.	0.071383	0.64402	D	0.000017	T	0.71787	0.3381	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;0.962;1.0	D;P;D	0.97110	1.0;0.726;1.0	T	0.70749	-0.4787	10	0.45353	T	0.12	-14.6427	14.7385	0.69434	0.0685:0.0:0.9315:0.0	.	204;134;190	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	M	190;134;204;134;134	ENSP00000261413:L190M;ENSP00000428120:L134M;ENSP00000426941:L204M;ENSP00000426176:L134M;ENSP00000427237:L134M	ENSP00000261413:L190M	L	-	1	2	MRPS27	71564049	1.000000	0.71417	0.994000	0.49952	0.500000	0.33767	5.559000	0.67326	2.871000	0.98454	0.655000	0.94253	CTG		0.418	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		15	35	1	0	3.27435e-08	1	3.90559e-08	15	35				
UNC79	57578	broad.mit.edu	37	14	94121730	94121730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94121730C>T	ENST00000393151.2	+	39	6550	c.6550C>T	c.(6550-6552)Ctg>Ttg	p.L2184L	UNC79_ENST00000555664.1_Silent_p.L2145L|UNC79_ENST00000553484.1_Silent_p.L2206L|UNC79_ENST00000256339.4_Silent_p.L2007L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2184					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTTGCCAAGCTGCCTTGTGT	0.403																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(6616-6618)Ctg>Ttg		unc-79 homolog (C. elegans)							160.0	156.0	158.0					14																	94121730		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94121730C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6550C>T	14.37:g.94121730C>T						UNC79_ENST00000393151.2_Silent_p.L2184L|UNC79_ENST00000555664.1_Silent_p.L2145L|UNC79_ENST00000256339.4_Silent_p.L2007L	p.L2206L			Q9P2D8	UNC79_HUMAN			40	6770	+			2184					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.6616C>T																																																																																					0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	123	0	0	0	1	0	7	123				
MED13L	23389	broad.mit.edu	37	12	116457747	116457747	+	Missense_Mutation	SNP	G	G	A	rs191743300	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116457747G>A	ENST00000281928.3	-	6	862	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	219						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCCTGTTAGCGTCCCATTTAA	0.408													G|||	3	0.000599042	0.0	0.0	5008	,	,		16896	0.002		0.0	False		,,,				2504	0.001					ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(655-657)aCg>aTg		mediator complex subunit 13-like		G	MET/THR	0,4406		0,0,2203	124.0	108.0	114.0		656	5.4	1.0	12		114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MED13L	NM_015335.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	219/2211	116457747	1,13005	2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116457747G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.656C>T	12.37:g.116457747G>A	ENSP00000281928:p.Thr219Met						p.T219M	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	6	862	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		219					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.656C>T	CCDS9177.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.89	3.247914	0.59103	0.0	1.16E-4	ENSG00000123066	ENST00000281928	T	0.78595	-1.19	5.38	5.38	0.77491	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90113	0.4193	10	0.72032	D	0.01	.	19.1601	0.93527	0.0:0.0:1.0:0.0	.	219	Q71F56	MD13L_HUMAN	M	219	ENSP00000281928:T219M	ENSP00000281928:T219M	T	-	2	0	MED13L	114942130	1.000000	0.71417	0.990000	0.47175	0.650000	0.38633	9.476000	0.97823	2.520000	0.84964	0.585000	0.79938	ACG		0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			11	44	0	0	0	1	0	11	44				
RPS10P7	376693	broad.mit.edu	37	1	201489572	201489572	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201489572C>A	ENST00000441932.1	+	0	1742				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1				ribosomal protein S10 pseudogene 7																		AAACGGAGTGCTGTGCCCCCT	0.572																																						ENST00000441932.1																			0																																																			0							g.chr1:201489572C>A			1q32.1	2010-06-16				ENSG00000223396			36423	pseudogene	pseudogene						19123937	Standard	NR_026667		Approved		uc010ppt.3				1.37:g.201489572C>A						RP11-134G8.7_ENST00000454651.1_RNA		NR_026667.1						0	1742	+									RNA	SNP	ENST00000441932.1	37																																																																																						0.572	RPS10P7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087024.1	NR_026667		12	15	1	0	4.36969e-10	1	5.35656e-10	12	15				
ARG2	384	broad.mit.edu	37	14	68112518	68112518	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68112518A>C	ENST00000261783.3	+	4	701	c.521A>C	c.(520-522)aAg>aCg	p.K174T	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	174					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTACAGGATAAGGTCAGTGGG	0.468																																						ENST00000261783.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.e4+1		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						74.0	67.0	69.0					14																	68112518		2203	4300	6503	SO:0001630	splice_region_variant	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68112518A>C	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.522+1A>C	14.37:g.68112518A>C						ARG2_ENST00000556491.1_Intron	p.K174_splice	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	4	701	+			174					B2R690|Q6FHY8	Splice_Site	SNP	ENST00000261783.3	37	c.522_splice	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.614210	0.66672	.	.	ENSG00000081181	ENST00000261783	T	0.44083	0.93	5.28	5.28	0.74379	Ureohydrolase domain (1);	0.084912	0.85682	D	0.000000	T	0.39064	0.1064	L	0.43646	1.37	0.80722	D	1	B	0.22003	0.063	B	0.24155	0.051	T	0.22871	-1.0204	10	0.52906	T	0.07	.	15.3793	0.74641	1.0:0.0:0.0:0.0	.	174	P78540	ARGI2_HUMAN	T	174	ENSP00000261783:K174T	ENSP00000261783:K174T	K	+	2	0	ARG2	67182271	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.028000	0.93712	2.221000	0.72209	0.454000	0.30748	AAG		0.468	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172	Missense_Mutation	13	14	0	0	0	1	0	13	14				
ZMAT3	64393	broad.mit.edu	37	3	178748770	178748770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178748770C>A	ENST00000311417.2	-	3	1029	c.288G>T	c.(286-288)aaG>aaT	p.K96N	ZMAT3_ENST00000432729.1_Missense_Mutation_p.K96N	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGGAGTTTCTTACCATGAT	0.438																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(286-288)aaG>aaT		zinc finger, matrin-type 3							109.0	102.0	105.0					3																	178748770		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178748770C>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.288G>T	3.37:g.178748770C>A	ENSP00000311221:p.Lys96Asn					ZMAT3_ENST00000432729.1_Missense_Mutation_p.K96N	p.K96N	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		3	1029	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		96						Missense_Mutation	SNP	ENST00000311417.2	37	c.288G>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734634	0.69189	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.51071	0.72;0.72;0.72	5.47	4.57	0.56435	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	L	0.32530	0.975	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	T	0.53599	-0.8416	10	0.35671	T	0.21	-25.3881	13.3994	0.60874	0.0:0.9212:0.0:0.0788	.	96;96	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	N	96	ENSP00000311221:K96N;ENSP00000396506:K96N;ENSP00000398920:K96N	ENSP00000311221:K96N	K	-	3	2	ZMAT3	180231464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.679000	0.37597	1.229000	0.43630	0.650000	0.86243	AAG		0.438	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		22	36	1	0	9.04412e-07	1	1.0505e-06	22	36				
UBR5	51366	broad.mit.edu	37	8	103327066	103327066	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103327066C>A	ENST00000520539.1	-	15	2406	c.1800G>T	c.(1798-1800)caG>caT	p.Q600H	UBR5_ENST00000521922.1_Missense_Mutation_p.Q594H|UBR5_ENST00000220959.4_Missense_Mutation_p.Q600H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	600					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCACTGGCTCCTGCTTACTTT	0.373																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1798-1800)caG>caT		ubiquitin protein ligase E3 component n-recognin 5							128.0	106.0	113.0					8																	103327066		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103327066C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1800G>T	8.37:g.103327066C>A	ENSP00000429084:p.Gln600His					UBR5_ENST00000220959.4_Missense_Mutation_p.Q600H|UBR5_ENST00000521922.1_Missense_Mutation_p.Q594H	p.Q600H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		15	2406	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		600					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1800G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463076	0.43736	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44881	0.91;0.91;0.91	5.27	4.4	0.53042	.	0.062472	0.64402	D	0.000003	T	0.18923	0.0454	N	0.03608	-0.345	0.46586	D	0.999116	P;P	0.39576	0.679;0.679	B;B	0.28638	0.092;0.092	T	0.16335	-1.0406	10	0.87932	D	0	.	13.827	0.63357	0.0:0.9259:0.0:0.0741	.	594;600	E7EMW7;O95071	.;UBR5_HUMAN	H	600;600;594	ENSP00000429084:Q600H;ENSP00000220959:Q600H;ENSP00000427819:Q594H	ENSP00000220959:Q600H	Q	-	3	2	UBR5	103396242	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.073000	0.41519	1.245000	0.43885	-0.237000	0.12165	CAG		0.373	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		16	15	1	0	9.16793e-09	1	1.10245e-08	16	15				
SLC4A4	8671	broad.mit.edu	37	4	72332189	72332189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72332189C>T	ENST00000264485.5	+	13	1643	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	SLC4A4_ENST00000340595.3_Missense_Mutation_p.A465V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A465V|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A509V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A509V	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	509					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTGGGCACTGCTGTCTCTGGA	0.408																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1393-1395)gCt>gTt		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							188.0	180.0	183.0					4																	72332189		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72332189C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1526C>T	4.37:g.72332189C>T	ENSP00000264485:p.Ala509Val					SLC4A4_ENST00000425175.1_Missense_Mutation_p.A509V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A509V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A465V|SLC4A4_ENST00000264485.5_Missense_Mutation_p.A509V|SLC4A4_ENST00000514331.1_3'UTR	p.A465V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		10	1590	+			509					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1394C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937390	0.92458	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	6.04	6.04	0.98038	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	M	0.68728	2.09	0.80722	D	1	B;D;B;B;P;B	0.89917	0.35;1.0;0.188;0.174;0.727;0.14	B;D;B;B;P;B	0.76071	0.424;0.987;0.238;0.125;0.651;0.424	D	0.89104	0.3491	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	509;509;465;465;489;509	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	V	509;509;509;465;465	ENSP00000264485:A509V;ENSP00000393557:A509V;ENSP00000307349:A509V;ENSP00000422400:A465V;ENSP00000344272:A465V	ENSP00000264485:A509V	A	+	2	0	SLC4A4	72551053	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCT		0.408	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		14	197	0	0	0	1	0	14	197				
CCDC136	64753	broad.mit.edu	37	7	128441482	128441482	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128441482G>A	ENST00000297788.4	+	4	956	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	CCDC136_ENST00000378685.4_Missense_Mutation_p.A247T|CCDC136_ENST00000487361.1_Missense_Mutation_p.A197T|CCDC136_ENST00000464832.1_Missense_Mutation_p.A247T	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	197	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATGGAGATCGCCTCCCTCCG	0.488																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(589-591)Gcc>Acc		coiled-coil domain containing 136							50.0	54.0	53.0					7																	128441482		1988	4170	6158	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128441482G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.589G>A	7.37:g.128441482G>A	ENSP00000297788:p.Ala197Thr					CCDC136_ENST00000464832.1_Missense_Mutation_p.A247T|CCDC136_ENST00000378685.4_Missense_Mutation_p.A247T|CCDC136_ENST00000487361.1_Missense_Mutation_p.A197T	p.A197T	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			4	956	+			197			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.589G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	0.579	-0.837878	0.02692	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	T;T;T;T	0.40225	1.04;1.04;1.05;1.63	5.65	-2.85	0.05734	.	0.300428	0.39759	N	0.001280	T	0.11793	0.0287	N	0.01742	-0.745	0.21984	N	0.999436	B;B;B	0.17667	0.002;0.023;0.003	B;B;B	0.12837	0.001;0.008;0.001	T	0.23013	-1.0200	10	0.18710	T	0.47	-2.8378	4.923	0.13880	0.4107:0.0:0.4143:0.175	.	197;197;247	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	T	247;247;197;197;197;197	ENSP00000367956:A247T;ENSP00000419515:A247T;ENSP00000420509:A197T;ENSP00000297788:A197T	ENSP00000297788:A197T	A	+	1	0	CCDC136	128228718	0.990000	0.36364	0.777000	0.31699	0.033000	0.12548	1.486000	0.35530	-0.390000	0.07774	-0.150000	0.13652	GCC		0.488	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		12	14	0	0	0	1	0	12	14				
ADAMTS19	171019	broad.mit.edu	37	5	129070634	129070634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129070634A>G	ENST00000274487.4	+	22	3449	c.3304A>G	c.(3304-3306)Acc>Gcc	p.T1102A	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1102	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGCTCAATTACCTGTGGCAA	0.358																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3304-3306)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 19							85.0	84.0	85.0					5																	129070634		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129070634A>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3304A>G	5.37:g.129070634A>G	ENSP00000274487:p.Thr1102Ala					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.T1102A	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	22	3449	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1102			TSP type-1 5.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3304A>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594184	0.66219	.	.	ENSG00000145808	ENST00000274487	T	0.70399	-0.48	4.26	4.26	0.50523	.	0.090982	0.44902	D	0.000411	D	0.82903	0.5138	M	0.83312	2.635	0.43195	D	0.995031	D	0.63880	0.993	D	0.63381	0.914	D	0.85201	0.1015	9	.	.	.	.	14.4332	0.67264	1.0:0.0:0.0:0.0	.	1102	Q8TE59	ATS19_HUMAN	A	1102	ENSP00000274487:T1102A	.	T	+	1	0	ADAMTS19	129098533	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	4.137000	0.58010	2.149000	0.67028	0.477000	0.44152	ACC		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		31	31	0	0	0	1	0	31	31				
RAP1GAP	5909	broad.mit.edu	37	1	21930309	21930309	+	Intron	SNP	C	C	T	rs372872180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21930309C>T	ENST00000374765.4	-	19	1629				RAP1GAP_ENST00000542643.2_Intron|RAP1GAP_ENST00000290101.4_Intron|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A509T|RAP1GAP_ENST00000374761.2_Intron	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCAGAGCCGGCGGCCCCGCGG	0.647																																						ENST00000374763.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1525-1527)Gcc>Acc		RAP1 GTPase activating protein		C	,,	2,3130		0,2,1564	23.0	32.0	29.0		,,	-2.3	0.4	1		29	1,7157		0,1,3578	no	intron,intron,intron	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	,,	0,3,5142	TT,TC,CC		0.014,0.0639,0.0292	,,	,,	21930309	3,10287	1566	3579	5145	SO:0001627	intron_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21930309C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1429-903G>A	1.37:g.21930309C>T						RAP1GAP_ENST00000542643.2_Intron|RAP1GAP_ENST00000374765.4_Intron|RAP1GAP_ENST00000290101.4_Intron|RAP1GAP_ENST00000374761.2_Intron	p.A509T			P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	16	1533	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	515					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1525G>A	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055582	0.55325	6.39E-4	1.4E-4	ENSG00000076864	ENST00000374758	.	.	.	4.56	-2.32	0.06745	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.33824	D	0.629434	.	.	.	.	.	.	T	0.38628	-0.9652	5	0.14252	T	0.57	.	5.3212	0.15881	0.0:0.3967:0.1489:0.4544	.	.	.	.	T	509	.	ENSP00000363890:A509T	A	-	1	0	RAP1GAP	21802896	0.131000	0.22433	0.409000	0.26459	0.982000	0.71751	-0.979000	0.03774	-0.763000	0.04658	-0.258000	0.10820	GCC		0.647	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		6	14	0	0	0	1	0	6	14				
GNPTAB	79158	broad.mit.edu	37	12	102158793	102158793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158793G>A	ENST00000299314.7	-	13	2164	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	634					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCCCTTGTGTCCACCTCCA	0.408																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1900-1902)gaC>gaT		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							230.0	215.0	220.0					12																	102158793		2203	4300	6503	SO:0001819	synonymous_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158793G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1902C>T	12.37:g.102158793G>A							p.D634D	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2164	-			634					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.1902C>T	CCDS9088.1																																																																																				0.408	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			45	67	0	0	0	1	0	45	67				
RPL32P3	132241	broad.mit.edu	37	3	129116253	129116253	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129116253C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						TCAAAACTGACCCCAAGACAC	0.532																																						ENST00000514355.1																			0				lung(1)	1																																														0							g.chr3:129116253C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116253C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.532	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			33	58	0	0	0	1	0	33	58				
ITPR3	3710	broad.mit.edu	37	6	33633685	33633685	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33633685G>T	ENST00000374316.5	+	15	2543	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y	ITPR3_ENST00000605930.1_Missense_Mutation_p.D495Y			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	495					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAATGTCCTGGACATCATGGT	0.577																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1483-1485)Gac>Tac		inositol 1,4,5-trisphosphate receptor, type 3							129.0	93.0	105.0					6																	33633685		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33633685G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1483G>T	6.37:g.33633685G>T	ENSP00000363435:p.Asp495Tyr					ITPR3_ENST00000605930.1_Missense_Mutation_p.D495Y	p.D495Y			Q14573	ITPR3_HUMAN			15	2543	+			495					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1483G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916306	0.92249	.	.	ENSG00000096433	ENST00000374316	D	0.90444	-2.67	5.4	5.4	0.78164	Intracellular calcium-release channel (1);	0.107308	0.64402	D	0.000007	D	0.94228	0.8147	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.94532	0.7737	10	0.87932	D	0	-40.9487	19.1736	0.93590	0.0:0.0:1.0:0.0	.	495	Q14573	ITPR3_HUMAN	Y	495	ENSP00000363435:D495Y	ENSP00000363435:D495Y	D	+	1	0	ITPR3	33741663	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.904000	0.87408	2.539000	0.85634	0.563000	0.77884	GAC		0.577	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		3	21	1	0	0.004672	1	0.0049138	3	21				
DMC1	11144	broad.mit.edu	37	22	38963608	38963608	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38963608G>T	ENST00000216024.2	-	3	352	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DMC1_ENST00000428462.2_Missense_Mutation_p.L26M|DMC1_ENST00000464842.1_5'Flank	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	26					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTCTGTAACAGGTCAATATCT	0.333								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(76-78)Ctg>Atg	Homologous recombination	DNA meiotic recombinase 1																																				SO:0001583	missense	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38963608G>T	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.76C>A	22.37:g.38963608G>T	ENSP00000216024:p.Leu26Met					DMC1_ENST00000428462.2_Missense_Mutation_p.L26M	p.L26M	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			3	352	-	Melanoma(58;0.0286)		26					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	c.76C>A	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772683	0.31411	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.71	5.71	0.89125	DNA repair Rad51/transcription factor NusA, alpha-helical (1);	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	N	0.20685	0.6	0.53005	D	0.999963	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.05699	-1.0869	10	0.49607	T	0.09	1.0E-4	14.6646	0.68899	0.0:0.0:0.8547:0.1453	.	26;26;26	B4DMW6;Q8IYL1;Q14565	.;.;DMC1_HUMAN	M	26	ENSP00000216024:L26M;ENSP00000412703:L26M;ENSP00000391385:L26M;ENSP00000410808:L26M	ENSP00000216024:L26M	L	-	1	2	DMC1	37293554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.471000	0.53107	2.688000	0.91661	0.555000	0.69702	CTG		0.333	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		19	28	1	0	2.54575e-18	1	3.31776e-18	19	28				
CD1B	910	broad.mit.edu	37	1	158298712	158298712	+	Splice_Site	SNP	G	G	A	rs200467928		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158298712G>A	ENST00000368168.3	-	5	1086	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	327					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAACTCACCGGCGCCTCATA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		17351	0.001		0.0	False		,,,				2504	0.0					ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.e5+1		CD1b molecule							79.0	79.0	79.0					1																	158298712		2203	4300	6503	SO:0001630	splice_region_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158298712G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.980+1C>T	1.37:g.158298712G>A							p.R327_splice	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			5	1086	-	all_hematologic(112;0.0378)		327					Q5TDK9|Q5TDL0|Q9UMM2	Splice_Site	SNP	ENST00000368168.3	37	c.980_splice	CCDS1176.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	11.17|11.17	1.561003|1.561003	0.27827|0.27827	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.01599	.|4.74	4.26|4.26	-8.53|-8.53	0.00916|0.00916	.|.	.|1.310930	.|0.05586	.|N	.|0.573872	T|T	0.00241|0.00241	0.0007|0.0007	N|N	0.01624|0.01624	-0.795|-0.795	0.20307|0.20307	N|N	0.999916|0.999916	.|B;B	.|0.14438	.|0.01;0.0	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.49204|0.49204	-0.8964|-0.8964	5|10	.|0.49607	.|T	.|0.09	0.0158|0.0158	4.8511|4.8511	0.13537|0.13537	0.3273:0.0:0.2889:0.3837|0.3273:0.0:0.2889:0.3837	.|.	.|327;272	.|P29016;P29016-2	.|CD1B_HUMAN;.	L|W	239|327	.|ENSP00000357150:R327W	.|ENSP00000357150:R327W	P|R	-|-	2|1	0|2	CD1B|CD1B	156565336|156565336	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.492000|0.492000	0.33523|0.33523	-1.575000|-1.575000	0.02131|0.02131	-2.756000|-2.756000	0.00372|0.00372	-0.749000|-0.749000	0.03505|0.03505	CCG|CGG		0.383	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764	Missense_Mutation	10	31	0	0	0	1	0	10	31				
LRRC19	64922	broad.mit.edu	37	9	26995813	26995813	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26995813A>G	ENST00000380055.5	-	5	929	c.819T>C	c.(817-819)ctT>ctC	p.L273L	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	273						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CAACACCAACAAGAAAAGCCC	0.333																																						ENST00000380055.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.(817-819)ctT>ctC		leucine rich repeat containing 19							67.0	60.0	63.0					9																	26995813		2203	4300	6503	SO:0001819	synonymous_variant	64922					integral to membrane		g.chr9:26995813A>G	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.819T>C	9.37:g.26995813A>G						IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|LRRC19_ENST00000482770.1_5'UTR	p.L273L	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	5	929	-		all_neural(11;1.81e-09)	273					A0AV00|B9EG91	Silent	SNP	ENST00000380055.5	37	c.819T>C	CCDS6518.1																																																																																				0.333	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		3	47	0	0	0	1	0	3	47				
KIF21B	23046	broad.mit.edu	37	1	200943316	200943316	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200943316G>A	ENST00000422435.2	-	35	5137	c.4821C>T	c.(4819-4821)tgC>tgT	p.C1607C	KIF21B_ENST00000332129.2_Silent_p.C1594C|KIF21B_ENST00000461742.2_Intron|KIF21B_ENST00000360529.5_Intron	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1607					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTTACCCGGCAGTCACTGT	0.612																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(4780-4782)tgC>tgT		kinesin family member 21B							77.0	76.0	76.0					1																	200943316		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200943316G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4821C>T	1.37:g.200943316G>A						KIF21B_ENST00000360529.5_Intron|KIF21B_ENST00000461742.2_Intron|KIF21B_ENST00000422435.2_Silent_p.C1607C	p.C1594C	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			34	5098	-			1607					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.4782C>T	CCDS58056.1																																																																																				0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		7	42	0	0	0	1	0	7	42				
TBC1D2	55357	broad.mit.edu	37	9	100983342	100983342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100983342G>A	ENST00000375064.1	-	6	1185	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R165W|TBC1D2_ENST00000375066.5_Missense_Mutation_p.R383W|TBC1D2_ENST00000493589.2_Intron	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	383	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGCTCTCCCGCTCCTGCTCC	0.687																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1147-1149)Cgg>Tgg		TBC1 domain family, member 2							33.0	37.0	36.0					9																	100983342		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100983342G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1147C>T	9.37:g.100983342G>A	ENSP00000364205:p.Arg383Trp					TBC1D2_ENST00000375064.1_Missense_Mutation_p.R383W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R165W|TBC1D2_ENST00000493589.2_Intron	p.R383W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	6	1238	-		Myeloproliferative disorder(762;0.0255)	383			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1147C>T		.	.	.	.	.	.	.	.	.	.	G	17.57	3.423401	0.62733	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14516	2.5;3.0;2.5	5.41	4.44	0.53790	.	0.202903	0.43747	D	0.000526	T	0.28267	0.0698	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.63283	0.82;0.913	T	0.01133	-1.1441	10	0.87932	D	0	.	7.2673	0.26237	0.0:0.1517:0.6094:0.2389	.	383;383	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	383;383;165	ENSP00000364205:R383W;ENSP00000364207:R383W;ENSP00000341567:R165W	ENSP00000341567:R165W	R	-	1	2	TBC1D2	100023163	1.000000	0.71417	0.998000	0.56505	0.324000	0.28378	4.157000	0.58144	2.535000	0.85469	0.655000	0.94253	CGG		0.687	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		5	10	0	0	0	1	0	5	10				
ICAM5	7087	broad.mit.edu	37	19	10405101	10405101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10405101C>T	ENST00000221980.4	+	9	2078	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	672	Ig-like C2-type 8.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GATGAATCTACCTGCCCAAGT	0.692																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(2014-2016)aCc>aTc		intercellular adhesion molecule 5, telencephalin							36.0	42.0	40.0					19																	10405101		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10405101C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2015C>T	19.37:g.10405101C>T	ENSP00000221980:p.Thr672Ile						p.T672I	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		9	2078	+			672			Ig-like C2-type 8.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.2015C>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	8.632	0.893951	0.17613	.	.	ENSG00000105376	ENST00000221980	T	0.38887	1.11	5.15	2.67	0.31697	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.382752	0.22600	N	0.057974	T	0.27169	0.0666	N	0.20986	0.625	0.18873	N	0.999984	P	0.46395	0.877	B	0.39299	0.296	T	0.10064	-1.0646	10	0.33141	T	0.24	-25.1876	12.518	0.56044	0.0:0.5848:0.4152:0.0	.	672	Q9UMF0	ICAM5_HUMAN	I	672	ENSP00000221980:T672I	ENSP00000221980:T672I	T	+	2	0	ICAM5	10266101	0.018000	0.18449	0.928000	0.36995	0.144000	0.21451	0.740000	0.26188	1.175000	0.42826	0.542000	0.68232	ACC		0.692	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		18	28	0	0	0	1	0	18	28				
ABLIM3	22885	broad.mit.edu	37	5	148627447	148627447	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148627447C>T	ENST00000506113.1	+	17	2136	c.1654C>T	c.(1654-1656)Cgg>Tgg	p.R552W	ABLIM3_ENST00000326685.7_Missense_Mutation_p.R457W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R441W|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R441W|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R552W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R519W|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R38W|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	552					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCAGCCGGGAAGCCCT	0.597																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1654-1656)Cgg>Tgg		actin binding LIM protein family, member 3							29.0	31.0	30.0					5																	148627447		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148627447C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1654C>T	5.37:g.148627447C>T	ENSP00000425394:p.Arg552Trp					RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R441W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R441W|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R38W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R552W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R519W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R457W	p.R552W			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2136	+			552					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1654C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921647	0.73213	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.42	4.46	0.54185	.	0.125728	0.52532	D	0.000075	T	0.40670	0.1126	L	0.39898	1.24	0.39311	D	0.965074	D;D;D;D	0.76494	0.987;0.999;0.997;0.972	P;P;P;B	0.56278	0.711;0.795;0.648;0.386	T	0.39440	-0.9614	10	0.87932	D	0	.	15.1665	0.72833	0.2132:0.7868:0.0:0.0	.	38;457;441;552	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	W	457;441;552;552;441;519;38;37	ENSP00000315841:R457W;ENSP00000348938:R441W;ENSP00000310309:R552W;ENSP00000425394:R552W;ENSP00000421183:R441W;ENSP00000420855:R519W;ENSP00000430150:R38W	ENSP00000310309:R552W	R	+	1	2	ABLIM3	148607640	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.350000	0.44063	2.545000	0.85829	0.561000	0.74099	CGG		0.597	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		12	20	0	0	0	1	0	12	20				
PPIL4	85313	broad.mit.edu	37	6	149826712	149826712	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149826712A>T	ENST00000253329.2	-	13	1388	c.1356T>A	c.(1354-1356)caT>caA	p.H452Q	PPIL4_ENST00000340881.2_Missense_Mutation_p.I85N	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	452					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TATTACTATAATGGCCATCCC	0.393																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(1354-1356)caT>caA		peptidylprolyl isomerase (cyclophilin)-like 4							168.0	157.0	161.0					6																	149826712		2203	4300	6503	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826712A>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1356T>A	6.37:g.149826712A>T	ENSP00000253329:p.His452Gln					PPIL4_ENST00000340881.2_Missense_Mutation_p.I85N	p.H452Q	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	13	1388	-		Ovarian(120;0.0164)	452					B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.1356T>A	CCDS34550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.78|10.78	1.447635|1.447635	0.26074|0.26074	.|.	.|.	ENSG00000131013|ENSG00000131013	ENST00000253329|ENST00000340881	T|.	0.12465|.	2.68|.	6.05|6.05	0.733|0.733	0.18289|0.18289	.|.	0.460442|.	0.25503|.	N|.	0.030229|.	T|T	0.09247|0.09247	0.0228|0.0228	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.23650|.	0.089|.	B|.	0.14023|.	0.01|.	T|T	0.26052|0.26052	-1.0114|-1.0114	10|6	0.37606|0.87932	T|D	0.19|0	.|.	5.5883|5.5883	0.17287|0.17287	0.3704:0.0:0.5039:0.1257|0.3704:0.0:0.5039:0.1257	.|.	452|.	Q8WUA2|.	PPIL4_HUMAN|.	Q|N	452|85	ENSP00000253329:H452Q|.	ENSP00000253329:H452Q|ENSP00000344128:I85N	H|I	-|-	3|2	2|0	PPIL4|PPIL4	149868405|149868405	0.880000|0.880000	0.30214|0.30214	0.930000|0.930000	0.37139|0.37139	0.920000|0.920000	0.55202|0.55202	-0.002000|-0.002000	0.12924|0.12924	0.094000|0.094000	0.17404|0.17404	-0.297000|-0.297000	0.09499|0.09499	CAT|ATT		0.393	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			33	66	0	0	0	1	0	33	66				
RALA	5898	broad.mit.edu	37	7	39730138	39730138	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:39730138G>A	ENST00000005257.2	+	3	652	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	91					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GGGTTCCTCTGTGTTTTCTCT	0.443																																						ENST00000005257.2																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						c.(271-273)tGt>tAt		v-ral simian leukemia viral oncogene homolog A (ras related)							73.0	72.0	72.0					7																	39730138		2203	4300	6503	SO:0001583	missense	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39730138G>A		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.272G>A	7.37:g.39730138G>A	ENSP00000005257:p.Cys91Tyr					RALA_ENST00000468201.1_Intron	p.C91Y	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN			3	652	+			91					A4D1W3	Missense_Mutation	SNP	ENST00000005257.2	37	c.272G>A	CCDS5460.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623452	0.87460	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	T;T	0.76578	-1.03;-1.03	5.05	5.05	0.67936	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	N	0.21194	0.64	0.80722	D	1	D	0.59767	0.986	P	0.62813	0.907	D	0.83507	0.0078	10	0.87932	D	0	.	18.6095	0.91279	0.0:0.0:1.0:0.0	.	91	P11233	RALA_HUMAN	Y	91	ENSP00000005257:C91Y;ENSP00000388975:C91Y	ENSP00000005257:C91Y	C	+	2	0	RALA	39696663	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.525000	0.73795	2.631000	0.89168	0.467000	0.42956	TGT		0.443	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402		5	74	0	0	0	1	0	5	74				
SLC25A13	10165	broad.mit.edu	37	7	95775897	95775897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775897G>A	ENST00000265631.5	-	14	1559	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	SLC25A13_ENST00000542654.1_Missense_Mutation_p.R367W|SLC25A13_ENST00000416240.2_Missense_Mutation_p.R476W			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	475					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCCAGGTCCCGCACGACAGAC	0.403																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1426-1428)Cgg>Tgg		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						112.0	129.0	123.0					7																	95775897		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775897G>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1423C>T	7.37:g.95775897G>A	ENSP00000265631:p.Arg475Trp					SLC25A13_ENST00000265631.5_Missense_Mutation_p.R475W|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R367W	p.R476W	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1616	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		475					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1426C>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389882	0.61956	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80738	-1.41;-1.41;-1.41	4.63	2.68	0.31781	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90923	0.7147	H	0.95679	3.705	0.53005	D	0.999963	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.97;0.988;0.988	D	0.89834	0.3998	10	0.87932	D	0	-10.5206	7.9402	0.29955	0.0814:0.0:0.5666:0.3519	.	367;476;475	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	W	475;476;367	ENSP00000265631:R475W;ENSP00000400101:R476W;ENSP00000440484:R367W	ENSP00000265631:R475W	R	-	1	2	SLC25A13	95613833	0.971000	0.33674	0.492000	0.27490	0.848000	0.48234	1.741000	0.38238	0.573000	0.29400	0.655000	0.94253	CGG		0.403	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		15	213	0	0	0	1	0	15	213				
MTMR3	8897	broad.mit.edu	37	22	30416742	30416742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416742C>T	ENST00000401950.2	+	17	3436	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.R1032C|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.R1032C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R896C|MTMR3_ENST00000406629.1_Missense_Mutation_p.R1032C	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1032					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGCGCCTGCGTCAGATTGA	0.572																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(3094-3096)Cgt>Tgt		myotubularin related protein 3							66.0	56.0	60.0					22																	30416742		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416742C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3094C>T	22.37:g.30416742C>T	ENSP00000384651:p.Arg1032Cys					MTMR3_ENST00000323630.5_Missense_Mutation_p.R896C|MTMR3_ENST00000406629.1_Missense_Mutation_p.R1032C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.R1032C|MTMR3_ENST00000401950.2_Missense_Mutation_p.R1032C	p.R1032C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3422	+			1032					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.3094C>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480461	0.63849	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94457	-3.23;-3.29;-3.43;-3.31;-3.29	4.76	4.76	0.60689	.	0.174314	0.48286	D	0.000198	D	0.94886	0.8347	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.997	D	0.94833	0.7998	10	0.87932	D	0	.	12.4194	0.55512	0.1676:0.8323:0.0:0.0	.	1032;1032;1032	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	C	1032;1032;896;1032;1032	ENSP00000384651:R1032C;ENSP00000331649:R1032C;ENSP00000318070:R896C;ENSP00000307271:R1032C;ENSP00000384077:R1032C	ENSP00000318070:R896C	R	+	1	0	MTMR3	28746742	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.421000	0.52742	2.625000	0.88918	0.655000	0.94253	CGT		0.572	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		13	18	0	0	0	1	0	13	18				
CPEB4	80315	broad.mit.edu	37	5	173316959	173316959	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173316959T>G	ENST00000265085.5	+	1	1677	c.223T>G	c.(223-225)Ttg>Gtg	p.L75V	CPEB4_ENST00000520867.1_Missense_Mutation_p.L75V|CPEB4_ENST00000334035.5_Missense_Mutation_p.L75V|CPEB4_ENST00000519835.1_Missense_Mutation_p.L75V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	75					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATGAGATCTTGGGGTCAGA	0.478																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(223-225)Ttg>Gtg		cytoplasmic polyadenylation element binding protein 4							105.0	112.0	110.0					5																	173316959		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173316959T>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.223T>G	5.37:g.173316959T>G	ENSP00000265085:p.Leu75Val					CPEB4_ENST00000520867.1_Missense_Mutation_p.L75V|CPEB4_ENST00000334035.5_Missense_Mutation_p.L75V|CPEB4_ENST00000519835.1_Missense_Mutation_p.L75V	p.L75V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1677	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	75					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.223T>G	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028812	0.35797	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.85	-2.92	0.05615	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	L	0.32530	0.975	0.80722	D	1	D;D;B;D	0.69078	0.996;0.976;0.068;0.997	P;P;B;D	0.72625	0.824;0.741;0.022;0.978	T	0.55811	-0.8082	10	0.87932	D	0	-9.9387	15.5177	0.75837	0.0:0.7962:0.0:0.2038	.	75;75;75;75	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	V	75	ENSP00000265085:L75V;ENSP00000429092:L75V;ENSP00000334533:L75V;ENSP00000429048:L75V	ENSP00000265085:L75V	L	+	1	2	CPEB4	173249565	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	1.222000	0.32515	-0.418000	0.07450	0.533000	0.62120	TTG		0.478	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		16	142	0	0	0	1	0	16	142				
CXCR2P1	3580	broad.mit.edu	37	2	218925058	218925058	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218925058G>T	ENST00000439871.1	-	0	1322					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		TTAGGCAAGAGGTCTTAGAGA	0.532																																						ENST00000439871.1																			0																																																			0							g.chr2:218925058G>T	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925058G>T								NR_002712.1						0	1322	-									RNA	SNP	ENST00000439871.1	37																																																																																						0.532	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		20	50	1	0	1.55795e-14	1	1.98882e-14	20	50				
F5	2153	broad.mit.edu	37	1	169512306	169512306	+	Missense_Mutation	SNP	C	C	A	rs541355758		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169512306C>A	ENST00000367797.3	-	13	2223	c.2022G>T	c.(2020-2022)aaG>aaT	p.K674N	F5_ENST00000367796.3_Missense_Mutation_p.K679N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	674	F5/8 type A 2.|Plastocyanin-like 4.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCAGCCTCAGCTTTTTGCTTC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20070	0.001		0.0	False		,,,				2504	0.0					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2035-2037)aaG>aaT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						86.0	85.0	85.0					1																	169512306		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512306C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2022G>T	1.37:g.169512306C>A	ENSP00000356771:p.Lys674Asn					F5_ENST00000367797.3_Missense_Mutation_p.K674N	p.K679N			P12259	FA5_HUMAN			13	2238	-	all_hematologic(923;0.208)		674			F5/8 type A 2.|Plastocyanin-like 4.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2037G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	0.296	-0.976684	0.02215	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.97976	-4.64;-4.64	5.98	-0.61	0.11604	Cupredoxin (2);	0.340296	0.35207	N	0.003378	T	0.79149	0.4397	N	0.03115	-0.41	0.22581	N	0.998964	B	0.02656	0.0	B	0.01281	0.0	T	0.70718	-0.4795	9	0.27082	T	0.32	-10.4962	0.7589	0.01003	0.1929:0.2264:0.263:0.3177	.	674	P12259	FA5_HUMAN	N	674;679	ENSP00000356771:K674N;ENSP00000356770:K679N	ENSP00000356770:K679N	K	-	3	2	F5	167778930	0.841000	0.29509	0.404000	0.26397	0.395000	0.30598	-0.238000	0.08977	-0.362000	0.08113	-1.058000	0.02302	AAG		0.408	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		51	59	1	0	1.86277e-20	1	2.44568e-20	51	59				
CBR4	84869	broad.mit.edu	37	4	169923300	169923300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169923300C>A	ENST00000306193.3	-	4	625	c.457G>T	c.(457-459)Gga>Tga	p.G153*	CBR4_ENST00000509108.1_5'UTR|CBR4_ENST00000504480.1_Nonsense_Mutation_p.G153*	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	153					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACTAATCCTCCTTTACTGGCA	0.343																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(457-459)Gga>Tga		carbonyl reductase 4							60.0	62.0	62.0					4																	169923300		2203	4300	6503	SO:0001587	stop_gained	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169923300C>A	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.457G>T	4.37:g.169923300C>A	ENSP00000303525:p.Gly153*					CBR4_ENST00000504480.1_Nonsense_Mutation_p.G153*|CBR4_ENST00000509108.1_5'UTR	p.G153*	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	4	625	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	153					Q8WTW8|Q96K93	Nonsense_Mutation	SNP	ENST00000306193.3	37	c.457G>T	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	C	37	6.103687	0.97286	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	.	.	.	5.65	5.65	0.86999	.	0.285562	0.38436	N	0.001681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7135	0.96105	0.0:1.0:0.0:0.0	.	.	.	.	X	153;153;160	.	.	G	-	1	0	CBR4	170159875	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.028000	0.64115	2.665000	0.90641	0.462000	0.41574	GGA		0.343	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		4	37	1	0	0.014758	1	0.0152625	4	37				
OR6A2	8590	broad.mit.edu	37	11	6816879	6816879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6816879G>A	ENST00000332601.3	-	1	249	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	21					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGCGCAGGAGCAGGGAAG	0.493																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(61-63)Cct>Tct		olfactory receptor, family 6, subfamily A, member 2							125.0	98.0	107.0					11																	6816879		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816879G>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.61C>T	11.37:g.6816879G>A	ENSP00000330384:p.Pro21Ser						p.P21S	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	249	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	21					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.61C>T	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	3.596	-0.082549	0.07141	.	.	ENSG00000184933	ENST00000332601	T	0.03951	3.75	4.95	4.03	0.46877	.	0.546172	0.16642	N	0.205611	T	0.01730	0.0055	N	0.00538	-1.39	0.34907	D	0.747074	B	0.14012	0.009	B	0.06405	0.002	T	0.43909	-0.9362	10	0.21540	T	0.41	.	13.4146	0.60961	0.0:0.1589:0.8411:0.0	.	21	O95222	OR6A2_HUMAN	S	21	ENSP00000330384:P21S	ENSP00000330384:P21S	P	-	1	0	OR6A2	6773455	0.000000	0.05858	0.983000	0.44433	0.031000	0.12232	0.475000	0.22164	1.438000	0.47492	0.655000	0.94253	CCT		0.493	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		22	35	0	0	0	1	0	22	35				
YIPF4	84272	broad.mit.edu	37	2	32526473	32526473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32526473G>A	ENST00000238831.4	+	5	752	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	169						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAAGTCCTTGGAGTTATAGGA	0.308																																						ENST00000238831.3																			0				kidney(2)|lung(3)|prostate(3)|skin(1)	9						c.(505-507)gGa>gAa		Yip1 domain family, member 4							159.0	146.0	150.0					2																	32526473		2203	4299	6502	SO:0001583	missense	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32526473G>A	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.506G>A	2.37:g.32526473G>A	ENSP00000238831:p.Gly169Glu						p.G169E	NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN			5	752	+	Acute lymphoblastic leukemia(172;0.155)		169						Missense_Mutation	SNP	ENST00000238831.4	37	c.506G>A	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602147	0.87055	.	.	ENSG00000119820	ENST00000238831	T	0.39787	1.06	5.88	5.0	0.66597	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.77616	2.38	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.44590	-0.9318	10	0.52906	T	0.07	.	12.6214	0.56605	0.0763:0.0:0.9237:0.0	.	169	Q9BSR8	YIPF4_HUMAN	E	169	ENSP00000238831:G169E	ENSP00000238831:G169E	G	+	2	0	YIPF4	32379977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.382000	0.90154	1.487000	0.48415	0.655000	0.94253	GGA		0.308	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		40	58	0	0	0	1	0	40	58				
RNF123	63891	broad.mit.edu	37	3	49751542	49751542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49751542G>A	ENST00000327697.6	+	31	3089	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	RNF123_ENST00000433785.1_Missense_Mutation_p.R94H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	982					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCGGGTACCGCTATACACGG	0.617																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2944-2946)cGc>cAc		ring finger protein 123							87.0	88.0	88.0					3																	49751542		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49751542G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2945G>A	3.37:g.49751542G>A	ENSP00000328287:p.Arg982His					RNF123_ENST00000433785.1_Missense_Mutation_p.R94H	p.R982H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	31	3089	+			982					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.2945G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236484	0.95240	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.76578	-1.03	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88558	0.3121	10	0.72032	D	0.01	-31.1805	19.3095	0.94179	0.0:0.0:1.0:0.0	.	982	Q5XPI4	RN123_HUMAN	H	982;982;94	ENSP00000328287:R982H	ENSP00000328287:R982H	R	+	2	0	RNF123	49726546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.204000	0.95041	2.804000	0.96469	0.655000	0.94253	CGC		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		28	33	0	0	0	1	0	28	33				
HELB	92797	broad.mit.edu	37	12	66698541	66698541	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66698541C>T	ENST00000247815.4	+	2	277	c.218C>T	c.(217-219)aCa>aTa	p.T73I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	73					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACACAAGAGACATGTAAAGTG	0.368																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(217-219)aCa>aTa		helicase (DNA) B							103.0	102.0	102.0					12																	66698541		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698541C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.218C>T	12.37:g.66698541C>T	ENSP00000247815:p.Thr73Ile						p.T73I	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	277	+			73					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.218C>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037421	0.08148	.	.	ENSG00000127311	ENST00000247815	T	0.12147	2.71	4.87	1.09	0.20402	.	0.931280	0.09058	N	0.854708	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B	0.31931	0.347	B	0.25759	0.063	T	0.39800	-0.9596	9	.	.	.	0.0478	12.6913	0.56976	0.6365:0.3635:0.0:0.0	.	73	Q8NG08	HELB_HUMAN	I	73	ENSP00000247815:T73I	.	T	+	2	0	HELB	64984808	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.057000	0.14279	-0.059000	0.13154	-0.493000	0.04662	ACA		0.368	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			4	93	0	0	0	1	0	4	93				
APEX2	27301	broad.mit.edu	37	X	55026892	55026892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55026892C>T	ENST00000374987.3	+	1	103	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	APEX2_ENST00000471758.1_3'UTR|PFKFB1_ENST00000545676.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	13					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CAATGGGATTCGGAGACCCCT	0.602								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(37-39)Cgg>Tgg	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							49.0	36.0	40.0					X																	55026892		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55026892C>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.37C>T	X.37:g.55026892C>T	ENSP00000364126:p.Arg13Trp					APEX2_ENST00000471758.1_3'UTR	p.R13W	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			1	103	+			13					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.37C>T	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517031	0.64634	.	.	ENSG00000169188	ENST00000374987	T	0.69435	-0.4	4.28	3.4	0.38934	Endonuclease/exonuclease/phosphatase (2);	0.060946	0.64402	D	0.000004	D	0.86573	0.5965	H	0.97365	3.99	0.49915	D	0.999838	D	0.89917	1.0	D	0.97110	1.0	D	0.88634	0.3171	10	0.87932	D	0	-15.9144	10.5598	0.45140	0.1941:0.8058:0.0:0.0	.	13	Q9UBZ4	APEX2_HUMAN	W	13	ENSP00000364126:R13W	ENSP00000364126:R13W	R	+	1	2	APEX2	55043617	0.926000	0.31397	0.944000	0.38274	0.692000	0.40212	0.943000	0.29030	0.933000	0.37291	0.544000	0.68410	CGG		0.602	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			4	6	0	0	0	1	0	4	6				
CARD9	64170	broad.mit.edu	37	9	139264250	139264250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139264250G>A	ENST00000371732.5	-	7	1194	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CARD9_ENST00000371734.3_Silent_p.I343I|CARD9_ENST00000315908.7_Silent_p.I343I|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	343					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGATGGCCTCGATGCGGTCCT	0.637																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1027-1029)atC>atT		caspase recruitment domain family, member 9							123.0	83.0	97.0					9																	139264250		2196	4299	6495	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139264250G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1029C>T	9.37:g.139264250G>A						CARD9_ENST00000371734.3_Silent_p.I343I|CARD9_ENST00000315908.7_Silent_p.I343I	p.I343I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	7	1194	-		Myeloproliferative disorder(178;0.0511)	343					Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.1029C>T	CCDS6997.1																																																																																				0.637	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		4	13	0	0	0	1	0	4	13				
SDC3	9672	broad.mit.edu	37	1	31349520	31349520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31349520C>T	ENST00000339394.6	-	3	923	c.749G>A	c.(748-750)aGc>aAc	p.S250N	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Missense_Mutation_p.S192N	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	250	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCTGTGCTGACCAGCCT	0.711																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)aGc>aAc		syndecan 3							23.0	27.0	26.0					1																	31349520		2201	4299	6500	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349520C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.749G>A	1.37:g.31349520C>T	ENSP00000344468:p.Ser250Asn					SDC3_ENST00000339394.6_Missense_Mutation_p.S250N	p.S192N			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	1	2067	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	250			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.575G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020752	0.35606	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.23348	1.91;1.93	4.9	2.87	0.33458	.	0.485871	0.20342	N	0.094213	T	0.08935	0.0221	N	0.03608	-0.345	0.22851	N	0.998658	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.18085	-1.0348	10	0.28530	T	0.3	-10.4939	2.6859	0.05107	0.123:0.4651:0.2336:0.1783	.	250;192	O75056;D3DPN2	SDC3_HUMAN;.	N	192;250	ENSP00000338346:S192N;ENSP00000344468:S250N	ENSP00000338346:S192N	S	-	2	0	SDC3	31122107	0.985000	0.35326	1.000000	0.80357	0.916000	0.54674	0.019000	0.13444	1.166000	0.42689	0.462000	0.41574	AGC		0.711	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		7	9	0	0	0	1	0	7	9				
ADCY3	109	broad.mit.edu	37	2	25057802	25057802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25057802C>T	ENST00000260600.5	-	9	2517	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	ADCY3_ENST00000450524.1_5'Flank|ADCY3_ENST00000405392.1_Missense_Mutation_p.D189N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	556					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGGTTGTCGGCCTGTGAG	0.617																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1666-1668)Gac>Aac		adenylate cyclase 3							27.0	27.0	27.0					2																	25057802		2202	4300	6502	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25057802C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1666G>A	2.37:g.25057802C>T	ENSP00000260600:p.Asp556Asn					ADCY3_ENST00000405392.1_Missense_Mutation_p.D189N	p.D556N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			9	2517	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		556					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1666G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960796	0.74016	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027	T;T;T	0.80123	0.95;0.95;-1.34	5.05	5.05	0.67936	.	0.255835	0.37669	N	0.001988	T	0.69602	0.3129	N	0.08118	0	0.41329	D	0.987225	P;B;D	0.65815	0.697;0.065;0.995	B;B;P	0.48030	0.032;0.003;0.564	T	0.70930	-0.4738	10	0.23302	T	0.38	.	16.9791	0.86322	0.0:1.0:0.0:0.0	.	556;556;189	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	556;189;531;182	ENSP00000260600:D556N;ENSP00000384484:D189N;ENSP00000410120:D182N	ENSP00000260600:D556N	D	-	1	0	ADCY3	24911306	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	5.191000	0.65110	2.344000	0.79699	0.563000	0.77884	GAC		0.617	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			9	8	0	0	0	1	0	9	8				
WDR78	79819	broad.mit.edu	37	1	67340464	67340464	+	Splice_Site	SNP	G	G	A	rs533479513		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67340464G>A	ENST00000371026.3	-	5	855	c.800C>T	c.(799-801)aCt>aTt	p.T267I	WDR78_ENST00000371022.3_Splice_Site_p.T267I|WDR78_ENST00000371023.3_Splice_Site_p.T267I|WDR78_ENST00000431318.1_Splice_Site_p.T13I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	267					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCATACATACGTTACTTTCTC	0.403																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.e5+1		WD repeat domain 78							162.0	155.0	157.0					1																	67340464		2203	4300	6503	SO:0001630	splice_region_variant	79819							g.chr1:67340464G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.800+1C>T	1.37:g.67340464G>A						WDR78_ENST00000371023.3_Splice_Site_p.T267_splice|WDR78_ENST00000371022.3_Splice_Site_p.T267_splice|WDR78_ENST00000431318.1_Splice_Site_p.T13_splice	p.T267_splice	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			5	855	-			267					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Splice_Site	SNP	ENST00000371026.3	37	c.800_splice	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729386	0.15507	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022	T;T;T;T;T	0.66460	0.48;-0.21;-0.21;2.27;1.53	5.32	-6.62	0.01813	.	1.655070	0.03167	N	0.170157	T	0.07638	0.0192	N	0.00621	-1.32	0.09310	N	0.999999	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.05616	-1.0874	9	.	.	.	3.8722	0.9946	0.01464	0.2575:0.2665:0.2966:0.1794	.	13;267;267;267	Q5VTH9-3;Q5TAD8;A0AVI9;Q5VTH9	.;.;.;WDR78_HUMAN	I	267;13;33;267;267	ENSP00000360065:T267I;ENSP00000393182:T13I;ENSP00000433682:T33I;ENSP00000360062:T267I;ENSP00000360061:T267I	.	T	-	2	0	WDR78	67113052	0.000000	0.05858	0.058000	0.19502	0.606000	0.37113	-2.493000	0.00972	-1.585000	0.01634	-0.469000	0.05056	ACT		0.403	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Missense_Mutation	32	71	0	0	0	1	0	32	71				
PODN	127435	broad.mit.edu	37	1	53542952	53542952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542952G>A	ENST00000312553.5	+	6	823	c.816G>A	c.(814-816)ctG>ctA	p.L272L	PODN_ENST00000371500.3_Silent_p.L253L|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	224					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTCATCCTGTCCAGCAACT	0.632																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(757-759)ctG>ctA		podocan							117.0	116.0	116.0					1																	53542952		2203	4300	6503	SO:0001819	synonymous_variant	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53542952G>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.816G>A	1.37:g.53542952G>A						RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Silent_p.L272L	p.L253L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			8	1100	+			224					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	c.759G>A	CCDS573.1																																																																																				0.632	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		6	123	0	0	0	1	0	6	123				
NBPF10	100132406	broad.mit.edu	37	1	145368545	145368545	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145368545T>C	ENST00000369339.3	+	17	2130	c.1877T>C	c.(1876-1878)tTc>tCc	p.F626S	NBPF10_ENST00000369338.1_Missense_Mutation_p.F624S|NBPF10_ENST00000342960.5_Missense_Mutation_p.F3508S			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	803	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTGACTCATTCCAGCACTAC	0.448																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10522-10524)tTc>tCc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145368545T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1877T>C	1.37:g.145368545T>C	ENSP00000358345:p.Phe626Ser					NBPF10_ENST00000369339.2_Missense_Mutation_p.F626S|NBPF10_ENST00000369338.1_Missense_Mutation_p.F624S	p.F3508S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10558	+	all_hematologic(923;0.032)		3508					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10523T>C		.	.	.	.	.	.	.	.	.	.	.	0.013	-1.646249	0.00792	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.06142	3.34;3.34	0.732	-1.46	0.08800	.	.	.	.	.	T	0.01661	0.0053	L	0.60455	1.87	0.09310	N	1	B	0.14012	0.009	B	0.24541	0.054	T	0.47636	-0.9102	9	0.32370	T	0.25	.	1.7828	0.03035	0.2953:0.0:0.2956:0.4091	.	572	Q4VC10	.	S	628;624;3508	ENSP00000358344:F624S;ENSP00000345684:F3508S	ENSP00000345684:F3508S	F	+	2	0	NBPF10	144079902	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.945000	0.01537	-1.625000	0.01554	-0.998000	0.02512	TTC		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		29	542	0	0	0	1	0	29	542				
SUPT6H	6830	broad.mit.edu	37	17	27020846	27020846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27020846C>T	ENST00000314616.6	+	28	4049	c.3766C>T	c.(3766-3768)Cga>Tga	p.R1256*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R1256*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1256	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCAGAAGAACGAGTGAAGGT	0.512																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3766-3768)Cga>Tga		suppressor of Ty 6 homolog (S. cerevisiae)							110.0	99.0	103.0					17																	27020846		2203	4300	6503	SO:0001587	stop_gained	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27020846C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3766C>T	17.37:g.27020846C>T	ENSP00000319104:p.Arg1256*					SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R1256*	p.R1256*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			28	4049	+	Lung NSC(42;0.00431)		1256			S1 motif.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	c.3766C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	44	11.120627	0.99518	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5144	14.7865	0.69808	0.1783:0.8217:0.0:0.0	.	.	.	.	X	1256	.	ENSP00000319104:R1256X	R	+	1	2	SUPT6H	24044973	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.741000	0.55090	2.769000	0.95229	0.655000	0.94253	CGA		0.512	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		16	25	0	0	0	1	0	16	25				
CBR3	874	broad.mit.edu	37	21	37510183	37510183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37510183C>T	ENST00000290354.5	+	2	631	c.350C>T	c.(349-351)gCc>gTc	p.A117V	CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	117					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	AATTTTTTTGCCACTAGAAAC	0.403																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(349-351)gCc>gTc		carbonyl reductase 3							156.0	147.0	150.0					21																	37510183		2203	4300	6503	SO:0001583	missense	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37510183C>T	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.350C>T	21.37:g.37510183C>T	ENSP00000290354:p.Ala117Val					CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	p.A117V	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			2	631	+			117					Q6FHP2	Missense_Mutation	SNP	ENST00000290354.5	37	c.350C>T	CCDS13642.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920145	0.73098	.	.	ENSG00000159231	ENST00000290354	T	0.11169	2.8	5.41	1.28	0.21552	NAD(P)-binding domain (1);	0.106739	0.64402	D	0.000007	T	0.31327	0.0793	M	0.83692	2.655	0.50313	D	0.999868	D	0.54397	0.966	P	0.56163	0.793	T	0.54833	-0.8234	10	0.87932	D	0	-19.59	19.5339	0.95240	0.0:0.5156:0.4844:0.0	.	117	O75828	CBR3_HUMAN	V	117	ENSP00000290354:A117V	ENSP00000290354:A117V	A	+	2	0	CBR3	36432053	0.443000	0.25641	0.997000	0.53966	0.804000	0.45430	0.185000	0.16958	0.380000	0.24823	0.563000	0.77884	GCC		0.403	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			40	66	0	0	0	1	0	40	66				
COL11A1	1301	broad.mit.edu	37	1	103431043	103431043	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103431043C>A	ENST00000370096.3	-	38	3228	c.2916G>T	c.(2914-2916)caG>caT	p.Q972H	COL11A1_ENST00000353414.4_Splice_Site_p.Q933H|COL11A1_ENST00000512756.1_Splice_Site_p.Q856H|COL11A1_ENST00000358392.2_Splice_Site_p.Q984H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	972	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGAACATACCTGTGGTCCAA	0.378																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e38+1		collagen, type XI, alpha 1							99.0	113.0	108.0					1																	103431043		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103431043C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2916+1G>T	1.37:g.103431043C>A						COL11A1_ENST00000512756.1_Splice_Site_p.Q856_splice|COL11A1_ENST00000370096.3_Splice_Site_p.Q972_splice|COL11A1_ENST00000353414.4_Splice_Site_p.Q933_splice	p.Q984_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	38	3269	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	972			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.2952_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209979	0.58343	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.21	5.3	5.3	0.74995	.	0.066573	0.64402	D	0.000006	D	0.95915	0.8670	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D	0.64830	0.98;0.988;0.994;0.99;0.988	D;D;D;D;D	0.78314	0.965;0.984;0.991;0.979;0.984	D	0.95063	0.8197	9	.	.	.	.	18.9633	0.92685	0.0:1.0:0.0:0.0	.	856;933;984;972;192	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	972;984;933;192;856	ENSP00000359114:Q972H;ENSP00000351163:Q984H;ENSP00000302551:Q933H;ENSP00000426533:Q856H	.	Q	-	3	2	COL11A1	103203631	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.854000	0.62918	2.485000	0.83878	0.557000	0.71058	CAG		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	16	264	1	0	2.23348e-06	1	2.57349e-06	16	264				
MROH9	80133	broad.mit.edu	37	1	170964535	170964535	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170964535C>T	ENST00000367758.3	+	13	1299	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	MROH9_ENST00000367759.4_Silent_p.C400C	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	400																	TATAGGCATGCCAGGCCCTGT	0.493																																						ENST00000367759.4																			0											c.(1198-1200)tgC>tgT		maestro heat-like repeat family member 9							104.0	100.0	101.0					1																	170964535		1918	4118	6036	SO:0001819	synonymous_variant	80133							g.chr1:170964535C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1200C>T	1.37:g.170964535C>T						MROH9_ENST00000367758.3_Silent_p.C400C	p.C400C	NM_001163629.1	NP_001157101.1					13	1354	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1200C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	0.777	-0.763719	0.02996	.	.	ENSG00000117501	ENST00000426136	.	.	.	5.57	-2.9	0.05648	.	.	.	.	.	T	0.22820	0.0551	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35943	-0.9768	4	.	.	.	-2.0079	2.0683	0.03608	0.1269:0.2614:0.373:0.2387	.	.	.	.	S	7	.	.	P	+	1	0	C1orf129	169231159	0.859000	0.29813	0.982000	0.44146	0.030000	0.12068	-0.193000	0.09573	-0.189000	0.10482	-0.932000	0.02703	CCA		0.493	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		9	99	0	0	0	1	0	9	99				
PI4KA	5297	broad.mit.edu	37	22	21104213	21104213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21104213C>T	ENST00000572273.1	-	28	3279	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	PI4KA_ENST00000255882.6_Missense_Mutation_p.V1075I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1017					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACTTGGTGACGGTAGGTGCC	0.498																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(3223-3225)Gtc>Atc		phosphatidylinositol 4-kinase, catalytic, alpha							102.0	86.0	91.0					22																	21104213		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21104213C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3049G>A	22.37:g.21104213C>T	ENSP00000458238:p.Val1017Ile					PI4KA_ENST00000572273.1_Missense_Mutation_p.V1017I	p.V1075I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		28	3309	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1017					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3223G>A		.	.	.	.	.	.	.	.	.	.	C	18.82	3.705436	0.68615	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	L	0.56769	1.78	0.80722	D	1	B	0.26577	0.153	B	0.21360	0.034	T	0.57682	-0.7769	9	0.34782	T	0.22	-40.5601	18.4372	0.90650	0.0:1.0:0.0:0.0	.	1017	P42356	PI4KA_HUMAN	I	1017	.	ENSP00000255882:V1017I	V	-	1	0	PI4KA	19434213	1.000000	0.71417	0.967000	0.41034	0.807000	0.45602	7.575000	0.82447	2.600000	0.87896	0.655000	0.94253	GTC		0.498	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		11	20	0	0	0	1	0	11	20				
PMS1	5378	broad.mit.edu	37	2	190719533	190719533	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190719533T>C	ENST00000441310.2	+	9	1768	c.1535T>C	c.(1534-1536)aTt>aCt	p.I512T	PMS1_ENST00000447232.2_Missense_Mutation_p.I512T|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.I473T|PMS1_ENST00000418224.3_Missense_Mutation_p.I336T|PMS1_ENST00000432292.3_Missense_Mutation_p.I336T	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	512					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAGAATATTGAACCTGTG	0.343			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1534-1536)aTt>aCt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							35.0	39.0	38.0					2																	190719533		2193	4293	6486	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719533T>C		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1535T>C	2.37:g.190719533T>C	ENSP00000406490:p.Ile512Thr					PMS1_ENST00000432292.3_Missense_Mutation_p.I336T|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.I336T|PMS1_ENST00000409823.3_Missense_Mutation_p.I473T|PMS1_ENST00000447232.2_Missense_Mutation_p.I512T	p.I512T	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	1768	+			512					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1535T>C	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257862	0.59321	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.97209	-2.61;-2.33;-2.78;-3.08;-2.33;-2.47;-4.29	4.81	4.81	0.61882	.	0.059267	0.64402	D	0.000002	D	0.97145	0.9067	M	0.62723	1.935	0.41178	D	0.986215	P;D;D;D;P;D;P	0.61697	0.944;0.984;0.984;0.99;0.944;0.99;0.883	P;P;P;P;P;P;B	0.56278	0.48;0.632;0.632;0.795;0.48;0.632;0.377	D	0.96527	0.9390	10	0.32370	T	0.25	-18.8869	14.5276	0.67900	0.0:0.0:0.0:1.0	.	512;473;473;297;473;512;512	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	T	336;512;336;473;512;336;451;297	ENSP00000406490:I512T;ENSP00000404492:I336T;ENSP00000387125:I473T;ENSP00000401064:I512T;ENSP00000398378:I336T;ENSP00000389938:I451T;ENSP00000387169:I297T	ENSP00000376149:I336T	I	+	2	0	PMS1	190427778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.237000	0.72345	2.023000	0.59567	0.377000	0.23210	ATT		0.343	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			9	56	0	0	0	1	0	9	56				
TTC6	319089	broad.mit.edu	37	14	38281612	38281612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38281612C>A	ENST00000476979.1	+	7	852	c.565C>A	c.(565-567)Cta>Ata	p.L189I	TTC6_ENST00000267368.7_Missense_Mutation_p.L189I|TTC6_ENST00000553443.1_Missense_Mutation_p.L1555I|TTC6_ENST00000382320.3_Missense_Mutation_p.L269I			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	189										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)		CTACGTAGAACTAGGCCAGTA	0.378																																						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.(4663-4665)Cta>Ata		tetratricopeptide repeat domain 6							176.0	156.0	163.0					14																	38281612		2203	4300	6503	SO:0001583	missense	319089							g.chr14:38281612C>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.565C>A	14.37:g.38281612C>A	ENSP00000417788:p.Leu189Ile					TTC6_ENST00000267368.7_Missense_Mutation_p.L189I|TTC6_ENST00000382320.3_Missense_Mutation_p.L269I|TTC6_ENST00000476979.1_Missense_Mutation_p.L189I	p.L1555I					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)	25	4663	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37	c.4663C>A		.	.	.	.	.	.	.	.	.	.	C	10.97	1.502459	0.26949	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.54	3.74	0.42951	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.102207	0.40554	N	0.001073	T	0.80874	0.4707	M	0.76574	2.34	0.28808	N	0.898375	D;D	0.89917	1.0;0.971	D;P	0.83275	0.996;0.844	T	0.83202	-0.0078	9	0.37606	T	0.19	-15.3994	9.4411	0.38668	0.0:0.7684:0.0:0.2316	.	1555;189	G3V3A5;Q86TZ1	.;TTC6_HUMAN	I	1555;189;189;269	ENSP00000451131:L1555I;ENSP00000417788:L189I;ENSP00000267368:L189I;ENSP00000371757:L269I	ENSP00000267368:L189I	L	+	1	2	TTC6	37351363	0.981000	0.34729	0.017000	0.16124	0.137000	0.21094	0.807000	0.27140	0.727000	0.32360	0.555000	0.69702	CTA		0.378	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		10	78	1	0	2.17888e-05	1	2.45068e-05	10	78				
TRERF1	55809	broad.mit.edu	37	6	42224502	42224502	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42224502A>T	ENST00000372922.4	-	12	3106	c.2544T>A	c.(2542-2544)gcT>gcA	p.A848A	TRERF1_ENST00000354325.2_Silent_p.A765A|TRERF1_ENST00000340840.2_Silent_p.A765A|TRERF1_ENST00000541110.1_Silent_p.A868A|TRERF1_ENST00000372917.4_Silent_p.A765A	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	848	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGAGTGCAAAGCAAATTCAG	0.418																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2602-2604)gcT>gcA		transcriptional regulating factor 1							131.0	125.0	127.0					6																	42224502		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42224502A>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2544T>A	6.37:g.42224502A>T						TRERF1_ENST00000372917.4_Silent_p.A765A|TRERF1_ENST00000372922.4_Silent_p.A848A|TRERF1_ENST00000340840.2_Silent_p.A765A|TRERF1_ENST00000354325.2_Silent_p.A765A	p.A868A			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		12	3172	-	Colorectal(47;0.196)		848			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.2604T>A	CCDS4867.1																																																																																				0.418	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		6	38	0	0	0	1	0	6	38				
GPRIN1	114787	broad.mit.edu	37	5	176026572	176026572	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176026572T>C	ENST00000303991.4	-	2	441	c.264A>G	c.(262-264)agA>agG	p.R88R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	88					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCTCCCTCTGGGGCCGT	0.657																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(262-264)agA>agG		G protein regulated inducer of neurite outgrowth 1							32.0	37.0	35.0					5																	176026572		2203	4300	6503	SO:0001819	synonymous_variant	114787					growth cone|plasma membrane		g.chr5:176026572T>C	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.264A>G	5.37:g.176026572T>C							p.R88R	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	441	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	88					C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	c.264A>G	CCDS4405.1																																																																																				0.657	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		5	55	0	0	0	1	0	5	55				
RPAP2	79871	broad.mit.edu	37	1	92789215	92789215	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92789215C>T	ENST00000610020.1	+	8	847	c.738C>T	c.(736-738)agC>agT	p.S246S	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	246					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCAAAAAAGCATAATGAAAA	0.393																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(736-738)agC>agT		RNA polymerase II associated protein 2							105.0	100.0	101.0					1																	92789215		2203	4300	6503	SO:0001819	synonymous_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789215C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.738C>T	1.37:g.92789215C>T						RPAP2_ENST00000484158.1_3'UTR	p.S246S	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	847	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	246					C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	c.738C>T	CCDS740.1																																																																																				0.393	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		8	91	0	0	0	1	0	8	91				
TULP1	7287	broad.mit.edu	37	6	35477678	35477678	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35477678G>T	ENST00000229771.6	-	6	606	c.527C>A	c.(526-528)cCg>cAg	p.P176Q	TULP1_ENST00000322263.4_Missense_Mutation_p.P123Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	176					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGTTTCGGTGGGGGGTC	0.567																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(526-528)cCg>cAg		tubby like protein 1							105.0	109.0	108.0					6																	35477678		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35477678G>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.527C>A	6.37:g.35477678G>T	ENSP00000229771:p.Pro176Gln					TULP1_ENST00000322263.4_Missense_Mutation_p.P123Q	p.P176Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			6	606	-			176					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.527C>A	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	2.059	-0.415766	0.04766	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	T;T;T	0.79653	-1.29;-1.29;1.08	4.16	-8.31	0.01001	.	3.200410	0.01124	N	0.005852	T	0.34658	0.0905	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.09377	0.004;0.002	T	0.47886	-0.9082	10	0.11485	T	0.65	5.1867	0.9246	0.01322	0.2319:0.323:0.2014:0.2437	.	123;176	O00294-2;O00294	.;TULP1_HUMAN	Q	176;123;123;128	ENSP00000229771:P176Q;ENSP00000319414:P123Q;ENSP00000406765:P128Q	ENSP00000229771:P176Q	P	-	2	0	TULP1	35585656	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.379000	0.01067	-1.877000	0.01129	0.462000	0.41574	CCG		0.567	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			8	110	1	0	0.000157383	1	0.00017284	8	110				
EXPH5	23086	broad.mit.edu	37	11	108382390	108382390	+	Missense_Mutation	SNP	G	G	T	rs146263472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108382390G>T	ENST00000265843.4	-	6	3954	c.3844C>A	c.(3844-3846)Cct>Act	p.P1282T	EXPH5_ENST00000525344.1_Missense_Mutation_p.P1275T|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1094T|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1206T|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1282					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCACTTGAGGTGATTCTATA	0.358																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3844-3846)Cct>Act		exophilin 5		G	THR/PRO	1,4401	2.1+/-5.4	0,1,2200	72.0	72.0	72.0		3844	-1.0	0.0	11	dbSNP_134	72	0,8596		0,0,4298	no	missense	EXPH5	NM_015065.2	38	0,1,6498	TT,TG,GG		0.0,0.0227,0.0077	benign	1282/1990	108382390	1,12997	2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382390G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3844C>A	11.37:g.108382390G>T	ENSP00000265843:p.Pro1282Thr					EXPH5_ENST00000428840.1_Missense_Mutation_p.P1206T|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1275T|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1094T	p.P1282T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3954	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1282					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3844C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112888	0.20795	2.27E-4	0.0	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03441	4.52;4.45;4.3;4.52;4.38;3.93	5.85	-0.982	0.10266	.	1.216400	0.05499	N	0.558141	T	0.01387	0.0045	N	0.01576	-0.805	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.46569	-0.9182	10	0.24483	T	0.36	0.6243	2.1135	0.03708	0.1467:0.2004:0.4015:0.2515	.	1282	Q8NEV8	EXPH5_HUMAN	T	1282;1206;1094;1275;1206;1094	ENSP00000265843:P1282T;ENSP00000391966:P1206T;ENSP00000411390:P1094T;ENSP00000432546:P1275T;ENSP00000432683:P1206T;ENSP00000446434:P1094T	ENSP00000265843:P1282T	P	-	1	0	EXPH5	107887600	0.001000	0.12720	0.003000	0.11579	0.093000	0.18481	-0.009000	0.12765	0.293000	0.22520	0.655000	0.94253	CCT		0.358	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		18	56	1	0	3.52763e-06	1	4.04633e-06	18	56				
FBXO5	26271	broad.mit.edu	37	6	153292398	153292398	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:153292398G>T	ENST00000229758.3	-	5	1302	c.1244C>A	c.(1243-1245)aCt>aAt	p.T415N	FBXO5_ENST00000367241.3_Missense_Mutation_p.T369N|FBXO5_ENST00000477822.1_5'UTR	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	415					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GTCTTTAGTAGTATGATAATT	0.388																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(1105-1107)aCt>aAt		F-box protein 5							119.0	112.0	114.0					6																	153292398		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153292398G>T	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1244C>A	6.37:g.153292398G>T	ENSP00000229758:p.Thr415Asn					FBXO5_ENST00000229758.3_Missense_Mutation_p.T415N|FBXO5_ENST00000477822.1_5'UTR	p.T369N	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	5	1486	-		Ovarian(120;0.125)	415					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.1106C>A	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	G	8.004	0.756063	0.15846	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.63096	-0.02;-0.02	5.57	-0.399	0.12415	.	0.638865	0.17261	N	0.180782	T	0.12390	0.0301	N	0.08118	0	0.21020	N	0.999805	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	10	0.14656	T	0.56	0.3585	4.2374	0.10632	0.1885:0.5236:0.1728:0.115	.	415	Q9UKT4	FBX5_HUMAN	N	415;369	ENSP00000229758:T415N;ENSP00000356210:T369N	ENSP00000229758:T415N	T	-	2	0	FBXO5	153334091	0.732000	0.28121	0.762000	0.31397	0.508000	0.34012	0.282000	0.18829	0.010000	0.14839	0.655000	0.94253	ACT		0.388	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			21	40	1	0	7.87624e-14	1	1.00187e-13	21	40				
NOS1AP	9722	broad.mit.edu	37	1	162337149	162337149	+	Silent	SNP	C	C	T	rs199857282		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162337149C>T	ENST00000361897.5	+	10	1815	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Silent_p.D466D|NOS1AP_ENST00000493151.1_Silent_p.D176D	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	471					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAACACGGACGAGAGCGAGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15663	0.0		0.001	False		,,,				2504	0.0					ENST00000493151.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(526-528)gaC>gaT		nitric oxide synthase 1 (neuronal) adaptor protein							23.0	22.0	22.0					1																	162337149		2203	4300	6503	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162337149C>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1413C>T	1.37:g.162337149C>T						NOS1AP_ENST00000530878.1_Silent_p.D466D|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000361897.5_Silent_p.D471D|RP11-565P22.6_ENST00000431696.1_Intron	p.D176D	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		2	2895	+	all_hematologic(112;0.203)		471			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.528C>T	CCDS1237.1																																																																																				0.667	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		4	7	0	0	0	1	0	4	7				
TNXB	7148	broad.mit.edu	37	6	32040067	32040067	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32040067G>T	ENST00000375244.3	-	13	4891	c.4690C>A	c.(4690-4692)Cca>Aca	p.P1564T	TNXB_ENST00000375247.2_Missense_Mutation_p.P1564T			P22105	TENX_HUMAN	tenascin XB	1649	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGGTGGGAGGGGAGCT	0.607																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4690-4692)Cca>Aca		tenascin XB							19.0	20.0	20.0					6																	32040067		1857	4096	5953	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32040067G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4690C>A	6.37:g.32040067G>T	ENSP00000364393:p.Pro1564Thr					TNXB_ENST00000375247.2_Missense_Mutation_p.P1564T	p.P1564T			P22105	TENX_HUMAN			13	4891	-			1649			Fibronectin type-III 8.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4690C>A		.	.	.	.	.	.	.	.	.	.	G	14.56	2.571069	0.45798	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.46;0.46	4.32	0.241	0.15494	.	0.879065	0.09443	N	0.801535	T	0.21962	0.0529	L	0.56124	1.755	0.09310	N	1	B	0.18741	0.03	B	0.17979	0.02	T	0.26360	-1.0105	10	0.35671	T	0.21	.	4.3403	0.11106	0.2757:0.0:0.5616:0.1627	.	1564	P22105-3	.	T	1564	ENSP00000364393:P1564T;ENSP00000364396:P1564T	ENSP00000364393:P1564T	P	-	1	0	TNXB	32148045	0.399000	0.25287	0.055000	0.19348	0.787000	0.44495	1.065000	0.30592	0.124000	0.18369	0.591000	0.81541	CCA		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	22	1	0	1.23904e-05	1	1.39987e-05	5	22				
RIOK2	55781	broad.mit.edu	37	5	96512896	96512896	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96512896T>A	ENST00000283109.3	-	4	490	c.422A>T	c.(421-423)tAt>tTt	p.Y141F	CTD-2215E18.1_ENST00000509481.1_Intron|RNU1-73P_ENST00000383971.1_RNA|RIOK2_ENST00000508447.1_Missense_Mutation_p.Y141F	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	141							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATGTTTATGATAATCGCGTTT	0.333																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(421-423)tAt>tTt		RIO kinase 2							166.0	169.0	168.0					5																	96512896		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96512896T>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.422A>T	5.37:g.96512896T>A	ENSP00000283109:p.Tyr141Phe					RIOK2_ENST00000508447.1_Missense_Mutation_p.Y141F|CTD-2215E18.1_ENST00000509481.1_Intron	p.Y141F	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	4	490	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	141					D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.422A>T	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633689	0.87660	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.07114	3.22;3.22	5.62	5.62	0.85841	Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.992	T	0.42430	-0.9452	10	0.72032	D	0.01	-0.3147	15.4739	0.75461	0.0:0.0:0.0:1.0	.	141;141	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	F	141	ENSP00000283109:Y141F;ENSP00000420932:Y141F	ENSP00000283109:Y141F	Y	-	2	0	RIOK2	96538652	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.554000	0.82212	2.138000	0.66242	0.455000	0.32223	TAT		0.333	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		4	92	0	0	0	1	0	4	92				
CLPX	10845	broad.mit.edu	37	15	65472481	65472481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472481C>T	ENST00000300107.3	-	2	329	c.141G>A	c.(139-141)caG>caA	p.Q47Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	47					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTGCAGAATCTGAGTTTCAA	0.383																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(139-141)caG>caA		caseinolytic mitochondrial matrix peptidase chaperone subunit							96.0	98.0	97.0					15																	65472481		2202	4299	6501	SO:0001819	synonymous_variant	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65472481C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.141G>A	15.37:g.65472481C>T							p.Q47Q	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			2	329	-			47					A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	c.141G>A	CCDS10202.1																																																																																				0.383	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		26	60	0	0	0	1	0	26	60				
BFSP1	631	broad.mit.edu	37	20	17475552	17475552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475552C>T	ENST00000377873.3	-	8	1204	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	BFSP1_ENST00000536626.1_Missense_Mutation_p.A250T|BFSP1_ENST00000544874.1_Missense_Mutation_p.A250T|BFSP1_ENST00000377868.2_Missense_Mutation_p.A264T	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	389	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTAATGGTGCATCTTCCAGA	0.393																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1165-1167)Gca>Aca		beaded filament structural protein 1, filensin							145.0	144.0	145.0					20																	17475552		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475552C>T	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1165G>A	20.37:g.17475552C>T	ENSP00000367104:p.Ala389Thr					BFSP1_ENST00000544874.1_Missense_Mutation_p.A250T|BFSP1_ENST00000536626.1_Missense_Mutation_p.A250T|BFSP1_ENST00000377868.2_Missense_Mutation_p.A264T	p.A389T	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1204	-			389			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1165G>A	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	0.950	-0.706709	0.03230	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.86769	-2.17;1.52;1.53;1.53	4.94	-7.87	0.01183	.	0.894418	0.09807	N	0.753332	T	0.71273	0.3320	L	0.31294	0.92	0.09310	N	1	B;B	0.18741	0.017;0.03	B;B	0.12156	0.007;0.004	T	0.57376	-0.7822	10	0.14252	T	0.57	3.9843	6.1367	0.20237	0.1732:0.5562:0.1854:0.0852	.	264;389	Q12934-2;Q12934	.;BFSP1_HUMAN	T	389;264;250;250	ENSP00000367104:A389T;ENSP00000367099:A264T;ENSP00000442522:A250T;ENSP00000439870:A250T	ENSP00000367099:A264T	A	-	1	0	BFSP1	17423552	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.848000	0.01673	-1.133000	0.02903	-0.176000	0.13171	GCA		0.393	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		58	97	0	0	0	1	0	58	97				
NPR2	4882	broad.mit.edu	37	9	35792411	35792411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35792411G>A	ENST00000342694.2	+	1	261	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	2					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCCCATGGCGCTGCCATCAC	0.687																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(4-6)gcG>gcA		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						19.0	22.0	21.0					9																	35792411		2202	4298	6500	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35792411G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.6G>A	9.37:g.35792411G>A							p.A2A	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		1	261	+	all_epithelial(49;0.161)		2					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.6G>A	CCDS6590.1																																																																																				0.687	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			9	11	0	0	0	1	0	9	11				
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(322-324)gcG>gcA		SET and MYND domain containing 1							27.0	25.0	26.0					2																	88387390		2198	4297	6495	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387390G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.324G>A	2.37:g.88387390G>A						SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000468008.1_3'UTR	p.A108A	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			3	409	+			108					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.324G>A	CCDS33240.1																																																																																				0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		6	8	0	0	0	1	0	6	8				
SMARCD3	6604	broad.mit.edu	37	7	150972252	150972252	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150972252C>A	ENST00000392811.2	-	0	461				SMARCD3_ENST00000356800.2_De_novo_Start_InFrame	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3						cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGGGTCCTGCACCTGGA	0.652																																						ENST00000392811.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15								SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							62.0	48.0	52.0					7																	150972252		2202	4299	6501			6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150972252C>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431		7.37:g.150972252C>A						SMARCD3_ENST00000356800.2_De_novo_Start_InFrame		NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	0	461	-								D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Translation_Start_Site	SNP	ENST00000392811.2	37		CCDS5924.1																																																																																				0.652	SMARCD3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348824.1	NM_001003801		4	19	1	0	0.150653	1	0.152692	4	19				
ENOSF1	55556	broad.mit.edu	37	18	691268	691268	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691268C>T	ENST00000251101.7	-	6	520	c.432G>A	c.(430-432)agG>agA	p.R144R	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000340116.7_Silent_p.R165R|ENOSF1_ENST00000383578.3_Silent_p.R62R	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	144					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATACCAGCATCCTGGGATCCT	0.428																																						ENST00000383578.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(184-186)agG>agA		enolase superfamily member 1							62.0	59.0	60.0					18																	691268		2203	4300	6503	SO:0001819	synonymous_variant	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:691268C>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.432G>A	18.37:g.691268C>T						ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000340116.7_Silent_p.R165R|ENOSF1_ENST00000251101.7_Silent_p.R144R|ENOSF1_ENST00000580982.1_Intron	p.R62R	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN			5	390	-			144					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	ENST00000251101.7	37	c.186G>A	CCDS11822.1																																																																																				0.428	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		11	31	0	0	0	1	0	11	31				
TANC1	85461	broad.mit.edu	37	2	160028716	160028716	+	Missense_Mutation	SNP	C	C	A	rs377158840		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160028716C>A	ENST00000263635.6	+	11	1673	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	TANC1_ENST00000454300.1_Missense_Mutation_p.P373H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	479					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTAAAACACCTCTTGGGTCT	0.463																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(1435-1437)cCt>cAt		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							95.0	95.0	95.0					2																	160028716		1868	4125	5993	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160028716C>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1436C>A	2.37:g.160028716C>A	ENSP00000263635:p.Pro479His					TANC1_ENST00000454300.1_Missense_Mutation_p.P373H	p.P479H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			11	1673	+			479					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1436C>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199598	0.38806	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70399	-0.46;-0.48	5.66	1.86	0.25419	.	0.481200	0.24547	N	0.037588	T	0.63710	0.2534	L	0.44542	1.39	0.09310	N	1	P;P;B	0.37276	0.454;0.589;0.396	B;B;B	0.43331	0.156;0.416;0.289	T	0.56944	-0.7895	10	0.59425	D	0.04	.	7.0052	0.24831	0.0:0.5081:0.0:0.4919	.	471;373;479	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	H	373;479	ENSP00000396339:P373H;ENSP00000263635:P479H	ENSP00000263635:P479H	P	+	2	0	TANC1	159736962	0.000000	0.05858	0.028000	0.17463	0.108000	0.19459	-0.150000	0.10189	0.753000	0.32945	0.591000	0.81541	CCT		0.463	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			5	47	1	0	0.000602214	1	0.000649039	5	47				
CCDC82	79780	broad.mit.edu	37	11	96098203	96098203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96098203C>T	ENST00000278520.5	-	7	1749	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	CCDC82_ENST00000423339.2_Missense_Mutation_p.G441R|CCDC82_ENST00000542662.1_Missense_Mutation_p.G441R			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	441										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TACAACTCTCCTGATAAATGC	0.333																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1321-1323)Gga>Aga		coiled-coil domain containing 82							97.0	97.0	97.0					11																	96098203		2201	4298	6499	SO:0001583	missense	79780						protein binding	g.chr11:96098203C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1321G>A	11.37:g.96098203C>T	ENSP00000278520:p.Gly441Arg					CCDC82_ENST00000542662.1_Missense_Mutation_p.G441R|CCDC82_ENST00000423339.2_Missense_Mutation_p.G441R	p.G441R			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	7	1749	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	441					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1321G>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536396	0.85812	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.73152	-0.72;-0.72;-0.72	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	D	0.83271	0.5218	M	0.66939	2.045	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84898	0.0840	10	0.87932	D	0	-28.48	17.9039	0.88913	0.0:1.0:0.0:0.0	.	441	Q8N4S0	CCD82_HUMAN	R	441	ENSP00000278520:G441R;ENSP00000444010:G441R;ENSP00000397156:G441R	ENSP00000278520:G441R	G	-	1	0	CCDC82	95737851	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.898000	0.63238	2.593000	0.87608	0.591000	0.81541	GGA		0.333	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		8	60	0	0	0	1	0	8	60				
USP9X	8239	broad.mit.edu	37	X	41043672	41043672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41043672C>A	ENST00000324545.8	+	23	3935	c.3302C>A	c.(3301-3303)cCt>cAt	p.P1101H	USP9X_ENST00000378308.2_Missense_Mutation_p.P1101H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1101					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGTTAATGCCTGCTGGTGCA	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3301-3303)cCt>cAt		ubiquitin specific peptidase 9, X-linked							121.0	108.0	112.0					X																	41043672		2063	4225	6288	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41043672C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3302C>A	X.37:g.41043672C>A	ENSP00000316357:p.Pro1101His					USP9X_ENST00000378308.2_Missense_Mutation_p.P1101H	p.P1101H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			23	3935	+			1101					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.3302C>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340931	0.81911	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.21543	2.0;2.0	5.8	4.93	0.64822	.	0.048081	0.85682	N	0.000000	T	0.49712	0.1573	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56353	-0.7993	10	0.87932	D	0	.	15.3749	0.74596	0.1403:0.8597:0.0:0.0	.	1101;1101	Q93008-1;Q93008	.;USP9X_HUMAN	H	1101	ENSP00000367558:P1101H;ENSP00000316357:P1101H	ENSP00000316357:P1101H	P	+	2	0	USP9X	40928616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	1.181000	0.42912	0.513000	0.50165	CCT		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		4	101	1	0	0.150653	1	0.152692	4	101				
ADORA1	134	broad.mit.edu	37	1	203098113	203098113	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203098113C>T	ENST00000367236.4	+	2	1065	c.144C>T	c.(142-144)atC>atT	p.I48I	ADORA1_ENST00000367235.1_Silent_p.I48I|RP11-335O13.7_ENST00000421055.1_RNA|ADORA1_ENST00000309502.3_Silent_p.I48I|ADORA1_ENST00000337894.4_Silent_p.I48I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	48					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TCTGCTTCATCGTGTCGCTGG	0.632																																						ENST00000367236.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(142-144)atC>atT		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						219.0	154.0	176.0					1																	203098113		2203	4300	6503	SO:0001819	synonymous_variant	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203098113C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.144C>T	1.37:g.203098113C>T						ADORA1_ENST00000337894.4_Silent_p.I48I|ADORA1_ENST00000367235.1_Silent_p.I48I|ADORA1_ENST00000309502.3_Silent_p.I48I	p.I48I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			2	1065	+			48					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	ENST00000367236.4	37	c.144C>T	CCDS1434.1																																																																																				0.632	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		64	57	0	0	0	1	0	64	57				
PLEKHS1	79949	broad.mit.edu	37	10	115529585	115529585	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115529585A>G	ENST00000369310.3	+	6	1022	c.460A>G	c.(460-462)Agc>Ggc	p.S154G	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S72G|PLEKHS1_ENST00000354462.3_5'Flank|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S160G|PLEKHS1_ENST00000369309.1_5'Flank	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	154																	CTTCTACTCCAGCCCTCTCCT	0.493																																						ENST00000361048.1																			0											c.(478-480)Agc>Ggc		pleckstrin homology domain containing, family S member 1							127.0	120.0	123.0					10																	115529585		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115529585A>G	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.460A>G	10.37:g.115529585A>G	ENSP00000358316:p.Ser154Gly					PLEKHS1_ENST00000369310.3_Missense_Mutation_p.S154G|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S72G	p.S160G	NM_024889.4	NP_079165.3					7	805	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.478A>G	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	A	8.143	0.785597	0.16189	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.32515	1.45;1.45;1.45	5.19	1.56	0.23342	.	0.727604	0.13800	N	0.361900	T	0.15739	0.0379	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20988	0.05;0.008;0.05	B;B;B	0.17722	0.019;0.014;0.019	T	0.29579	-1.0007	10	0.15952	T	0.53	-20.6822	5.9835	0.19421	0.6738:0.0:0.3262:0.0	.	154;154;160	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	G	160;72;154	ENSP00000354332:S160G;ENSP00000358318:S72G;ENSP00000358316:S154G	ENSP00000354332:S160G	S	+	1	0	C10orf81	115519575	0.000000	0.05858	0.002000	0.10522	0.053000	0.15095	0.337000	0.19841	0.442000	0.26555	0.482000	0.46254	AGC		0.493	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		11	97	0	0	0	1	0	11	97				
PLXNA3	55558	broad.mit.edu	37	X	153699861	153699861	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153699861C>A	ENST00000369682.3	+	32	5575	c.5400C>A	c.(5398-5400)tcC>tcA	p.S1800S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1800					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGGCATCCATCAGCGACC	0.552																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(5398-5400)tcC>tcA		plexin A3							106.0	88.0	94.0					X																	153699861		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153699861C>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5400C>A	X.37:g.153699861C>A							p.S1800S	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			32	5575	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1800					Q5HY36	Silent	SNP	ENST00000369682.3	37	c.5400C>A	CCDS14752.1																																																																																				0.552	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	90	1	0	0.335167	1	0.336617	8	90				
GPR98	84059	broad.mit.edu	37	5	90021442	90021442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90021442C>T	ENST00000405460.2	+	48	10226	c.10130C>T	c.(10129-10131)gCa>gTa	p.A3377V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3377					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTAATCATTGCAAGTCAAAGA	0.303																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10129-10131)gCa>gTa		G protein-coupled receptor 98							98.0	97.0	98.0					5																	90021442		1805	4064	5869	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90021442C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10130C>T	5.37:g.90021442C>T	ENSP00000384582:p.Ala3377Val						p.A3377V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	48	10226	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3377					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10130C>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.10|14.10	2.435100|2.435100	0.43224|0.43224	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.46819|.	0.86|.	4.88|4.88	3.98|3.98	0.46160|0.46160	.|.	0.177411|.	0.49916|.	D|.	0.000124|.	T|.	0.55593|.	0.1930|.	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B;B|.	0.17465|.	0.022;0.008|.	B;B|.	0.11329|.	0.006;0.006|.	T|.	0.50972|.	-0.8764|.	10|.	0.72032|.	D|.	0.01|.	.|.	8.0412|8.0412	0.30523|0.30523	0.0:0.7408:0.1646:0.0945|0.0:0.7408:0.1646:0.0945	.|.	3377;3377|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	V|X	3377|943	ENSP00000384582:A3377V|.	ENSP00000296619:A3377V|.	A|Q	+|+	2|1	0|0	GPR98|GPR98	90057198|90057198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	1.689000|1.689000	0.37700|0.37700	1.105000|1.105000	0.41606|0.41606	0.508000|0.508000	0.49915|0.49915	GCA|CAA		0.303	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	83	0	0	0	1	0	7	83				
TOP3B	8940	broad.mit.edu	37	22	22326279	22326279	+	Silent	SNP	G	G	A	rs41283235	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22326279G>A	ENST00000398793.2	-	5	788	c.354C>T	c.(352-354)tgC>tgT	p.C118C	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Silent_p.C118C	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	118	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCTCCTTGTCGCAGTCCAGCC	0.587													G|||	13	0.00259585	0.0	0.0043	5008	,	,		17936	0.001		0.001	False		,,,				2504	0.0082					ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(352-354)tgC>tgT		topoisomerase (DNA) III beta		G		4,4402	8.1+/-20.4	0,4,2199	241.0	132.0	169.0		354	-5.6	0.9	22	dbSNP_127	169	27,8573	19.2+/-60.6	0,27,4273	no	coding-synonymous	TOP3B	NM_003935.3		0,31,6472	AA,AG,GG		0.314,0.0908,0.2384		118/863	22326279	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22326279G>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.354C>T	22.37:g.22326279G>A						TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Silent_p.C118C	p.C118C	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	5	788	-	Colorectal(54;0.105)		118			Toprim.		A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.354C>T	CCDS13797.1																																																																																				0.587	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		9	22	0	0	0	1	0	9	22				
ANKRD42	338699	broad.mit.edu	37	11	82936072	82936072	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82936072A>C	ENST00000393392.2	+	6	840	c.678A>C	c.(676-678)gaA>gaC	p.E226D	ANKRD42_ENST00000531895.1_Missense_Mutation_p.E254D|ANKRD42_ENST00000260047.6_Missense_Mutation_p.E253D|ANKRD42_ENST00000533342.1_Missense_Mutation_p.E254D	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	226					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTGAGTATGAAGGAAAAGACC	0.333																																						ENST00000260047.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(757-759)gaA>gaC		ankyrin repeat domain 42							77.0	84.0	81.0					11																	82936072		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82936072A>C	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.678A>C	11.37:g.82936072A>C	ENSP00000377051:p.Glu226Asp					ANKRD42_ENST00000531895.1_Missense_Mutation_p.E254D|ANKRD42_ENST00000533342.1_Missense_Mutation_p.E254D|ANKRD42_ENST00000393392.2_Missense_Mutation_p.E226D	p.E253D			Q8N9B4	ANR42_HUMAN			6	1554	+			226					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.759A>C	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.837478	0.32513	.	.	ENSG00000137494	ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.23	2.89	0.33648	Ankyrin repeat-containing domain (3);	0.298673	0.28403	N	0.015472	T	0.20210	0.0486	L	0.50333	1.59	0.24098	N	0.995885	D;P;P;P	0.54601	0.967;0.856;0.701;0.914	P;B;B;P	0.52189	0.692;0.427;0.312;0.505	T	0.06463	-1.0825	9	.	.	.	-5.0805	4.1826	0.10383	0.6893:0.0:0.149:0.1617	.	254;518;345;226	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	D	253;254;226;254	ENSP00000260047:E253D;ENSP00000434666:E254D;ENSP00000377051:E226D;ENSP00000435790:E254D	.	E	+	3	2	ANKRD42	82613720	1.000000	0.71417	0.745000	0.31077	0.005000	0.04900	1.609000	0.36858	0.793000	0.33875	0.460000	0.39030	GAA		0.333	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		14	44	0	0	0	1	0	14	44				
MYO9B	4650	broad.mit.edu	37	19	17313002	17313002	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17313002C>A	ENST00000594824.1	+	28	4873	c.4726C>A	c.(4726-4728)Ctg>Atg	p.L1576M	MYO9B_ENST00000595618.1_Missense_Mutation_p.L1576M|MYO9B_ENST00000397274.2_Missense_Mutation_p.L1576M			Q13459	MYO9B_HUMAN	myosin IXB	1576	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGTCAGCAACCTGGCCACTGA	0.567																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4726-4728)Ctg>Atg		myosin IXB							47.0	50.0	49.0					19																	17313002		2011	4181	6192	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17313002C>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4726C>A	19.37:g.17313002C>A	ENSP00000471367:p.Leu1576Met					MYO9B_ENST00000397274.2_Missense_Mutation_p.L1576M|MYO9B_ENST00000594824.1_Missense_Mutation_p.L1576M	p.L1576M	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			28	4878	+			1576			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4726C>A		.	.	.	.	.	.	.	.	.	.	C	13.80	2.346035	0.41599	.	.	ENSG00000099331	ENST00000397274	D	0.84800	-1.9	4.5	4.5	0.54988	.	0.000000	0.39544	N	0.001331	D	0.86477	0.5942	L	0.31578	0.945	0.45205	D	0.99821	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	D	0.87095	0.2175	10	0.72032	D	0.01	.	9.9475	0.41618	0.0:0.9055:0.0:0.0945	.	1576;1576;1576;1582	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	M	1576	ENSP00000380444:L1576M	ENSP00000380444:L1576M	L	+	1	2	MYO9B	17174002	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.819000	0.39022	2.045000	0.60652	0.305000	0.20034	CTG		0.567	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			7	13	1	0	5.18039e-06	1	5.91835e-06	7	13				
MED7	9443	broad.mit.edu	37	5	156565837	156565837	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156565837T>C	ENST00000286317.5	-	2	987	c.606A>G	c.(604-606)gaA>gaG	p.E202E	MED7_ENST00000420343.1_Silent_p.E202E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	202					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTTGATGTTCATTCTGTC	0.383																																						ENST00000286317.5																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(604-606)gaA>gaG		mediator complex subunit 7							176.0	164.0	168.0					5																	156565837		2203	4300	6503	SO:0001819	synonymous_variant	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156565837T>C	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.606A>G	5.37:g.156565837T>C						MED7_ENST00000420343.1_Silent_p.E202E	p.E202E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	987	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	202						Silent	SNP	ENST00000286317.5	37	c.606A>G	CCDS4334.1																																																																																				0.383	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		21	140	0	0	0	1	0	21	140				
ZNF669	79862	broad.mit.edu	37	1	247263863	247263863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247263863C>T	ENST00000343381.6	-	4	1380	c.1208G>A	c.(1207-1209)aGt>aAt	p.S403N	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.S317N	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTGAAGGGAACTGAGGCGACT	0.438																																						ENST00000343381.6																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17						c.(1207-1209)aGt>aAt		zinc finger protein 669							155.0	156.0	156.0					1																	247263863		2203	4300	6503	SO:0001583	missense	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247263863C>T		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.1208G>A	1.37:g.247263863C>T	ENSP00000342818:p.Ser403Asn					ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.S317N	p.S403N	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1380	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		403					B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	c.1208G>A	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	C	2.378	-0.342841	0.05243	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.07567	3.18;3.18	0.544	-1.09	0.09904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	M	0.82630	2.6	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.28586	-1.0039	9	0.56958	D	0.05	.	4.6428	0.12558	0.0:0.5672:0.0:0.4328	.	317;403	B3KP94;Q96BR6	.;ZN669_HUMAN	N	317;317;403	ENSP00000404370:S317N;ENSP00000342818:S403N	ENSP00000342818:S403N	S	-	2	0	ZNF669	245330486	0.000000	0.05858	0.023000	0.16930	0.097000	0.18754	-0.847000	0.04331	-0.661000	0.05345	-0.738000	0.03535	AGT		0.438	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		55	104	0	0	0	1	0	55	104				
SYNGAP1	8831	broad.mit.edu	37	6	33405668	33405668	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33405668G>A	ENST00000418600.2	+	8	1087	c.986G>A	c.(985-987)cGt>cAt	p.R329H	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R270H|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R329H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	329	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CATCTGTACCGTGACTCAGAC	0.622																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(985-987)cGt>cAt		synaptic Ras GTPase activating protein 1							74.0	68.0	70.0					6																	33405668		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405668G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.986G>A	6.37:g.33405668G>A	ENSP00000403636:p.Arg329His					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R270H|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R329H	p.R329H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	1087	+			329			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.986G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821722	0.71028	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.18657	2.2;2.29;2.28	4.89	4.01	0.46588	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.072009	0.53938	D	0.000046	T	0.18257	0.0438	L	0.52823	1.66	0.45161	D	0.998171	D;D;D;P	0.65815	0.995;0.994;0.994;0.615	P;P;P;B	0.55545	0.778;0.669;0.669;0.219	T	0.02184	-1.1199	10	0.52906	T	0.07	.	6.753	0.23497	0.093:0.1807:0.7263:0.0	.	329;329;329;329	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	H	329;329;329;270	ENSP00000293748:R329H;ENSP00000403636:R329H;ENSP00000412475:R270H	ENSP00000293748:R329H	R	+	2	0	SYNGAP1	33513646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.241000	0.72369	1.274000	0.44362	0.655000	0.94253	CGT		0.622	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		23	27	0	0	0	1	0	23	27				
RAD23B	5887	broad.mit.edu	37	9	110086280	110086280	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110086280G>T	ENST00000358015.3	+	8	1278	c.927G>T	c.(925-927)gaG>gaT	p.E309D	RAD23B_ENST00000416373.2_Missense_Mutation_p.E237D	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	309	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGTCGAGAGAATCCTCAAT	0.413								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(925-927)gaG>gaT	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							145.0	130.0	135.0					9																	110086280		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110086280G>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.927G>T	9.37:g.110086280G>T	ENSP00000350708:p.Glu309Asp					RAD23B_ENST00000416373.2_Missense_Mutation_p.E237D	p.E309D	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			8	1278	+			309			STI1.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.927G>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981661	0.53827	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18174	2.25;2.23	5.51	3.5	0.40072	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.35793	1.09	0.51233	D	0.999912	B;B;B	0.31640	0.217;0.236;0.333	B;B;B	0.36989	0.193;0.238;0.147	T	0.07520	-1.0768	10	0.38643	T	0.18	-1.0419	6.7598	0.23534	0.458:0.0:0.542:0.0	.	288;309;309	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	D	309;237	ENSP00000350708:E309D;ENSP00000405623:E237D	ENSP00000350708:E309D	E	+	3	2	RAD23B	109126101	0.998000	0.40836	1.000000	0.80357	0.948000	0.59901	0.559000	0.23485	1.289000	0.44618	0.650000	0.86243	GAG		0.413	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		6	81	1	0	0.00307968	1	0.00325696	6	81				
CLCNKB	1188	broad.mit.edu	37	1	16374411	16374411	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374411C>A	ENST00000375679.4	+	5	481	c.370C>A	c.(370-372)Ccg>Acg	p.P124T	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	124			P -> L (in BS3). {ECO:0000269|PubMed:9326936}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGAATCCCGGAGGTGAA	0.547																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(370-372)Ccg>Acg		chloride channel, voltage-sensitive Kb							77.0	85.0	82.0					1																	16374411		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16374411C>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.370C>A	1.37:g.16374411C>A	ENSP00000364831:p.Pro124Thr						p.P124T	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	481	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.370C>A	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	13.39	2.222034	0.39300	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.95035	-3.59	3.71	2.76	0.32466	Chloride channel, core (2);	0.115300	0.64402	D	0.000011	D	0.96975	0.9012	M	0.89030	3	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	D	0.96844	0.9620	10	0.87932	D	0	.	10.6772	0.45794	0.0:0.9013:0.0:0.0987	.	124	P51801	CLCKB_HUMAN	T	124	ENSP00000364831:P124T	ENSP00000332055:P124T	P	+	1	0	CLCNKB	16246998	1.000000	0.71417	0.994000	0.49952	0.046000	0.14306	4.382000	0.59594	1.896000	0.54893	0.563000	0.77884	CCG		0.547	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		7	52	1	0	0.00307968	1	0.00325696	7	52				
NEMF	9147	broad.mit.edu	37	14	50251694	50251694	+	Missense_Mutation	SNP	C	C	T	rs192550021		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50251694C>T	ENST00000298310.5	-	32	3551	c.3102G>A	c.(3100-3102)atG>atA	p.M1034I	NEMF_ENST00000546046.1_Missense_Mutation_p.M1013I|NEMF_ENST00000545773.1_Missense_Mutation_p.M992I|NEMF_ENST00000382135.2_Missense_Mutation_p.M234I|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	1034					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTGGAATGCATGAAACTAT	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		18359	0.0		0.001	False		,,,				2504	0.0					ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(3100-3102)atG>atA		nuclear export mediator factor		C	ILE/MET	1,4403		0,1,2201	97.0	101.0	99.0		3102	5.6	1.0	14		99	3,8597		0,3,4297	yes	missense	NEMF	NM_004713.3	10	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging	1034/1077	50251694	4,13000	2202	4300	6502	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50251694C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.3102G>A	14.37:g.50251694C>T	ENSP00000298310:p.Met1034Ile					NEMF_ENST00000382135.2_Missense_Mutation_p.M234I|NEMF_ENST00000545773.1_Missense_Mutation_p.M992I|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.M1013I	p.M1034I			O60524	NEMF_HUMAN			32	3551	-			1034					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.3102G>A	CCDS9694.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.1	4.250659	0.80135	2.27E-4	3.49E-4	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000555970	T;T;T;T	0.41400	1.0;1.0;1.0;1.02	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.31664	0.95	0.80722	D	1	D;D;D;D;P	0.62365	0.974;0.974;0.991;0.985;0.905	P;P;P;D;P	0.72338	0.647;0.647;0.805;0.977;0.67	T	0.36744	-0.9735	10	0.22706	T	0.39	-19.2559	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1013;1009;992;1034;234	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	I	1034;992;234;1013;992	ENSP00000298310:M1034I;ENSP00000438309:M992I;ENSP00000441016:M1013I;ENSP00000452540:M992I	ENSP00000298310:M1034I	M	-	3	0	NEMF	49321444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.266000	0.65525	2.818000	0.97014	0.591000	0.81541	ATG		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		32	71	0	0	0	1	0	32	71				
GFPT2	9945	broad.mit.edu	37	5	179743862	179743862	+	Splice_Site	SNP	C	C	A	rs374275686		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179743862C>A	ENST00000253778.8	-	12	1224		c.e12-1		GFPT2_ENST00000520165.1_Splice_Site	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCAGGAGCACTGCAGGGCAC	0.587																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.e12-1		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						59.0	62.0	61.0					5																	179743862		2138	4231	6369	SO:0001630	splice_region_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179743862C>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1055-1G>T	5.37:g.179743862C>A						GFPT2_ENST00000520165.1_Splice_Site		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1224	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)						Q53XM2|Q9BWS4	Splice_Site	SNP	ENST00000253778.8	37		CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579147	0.86645	.	.	ENSG00000131459	ENST00000253778	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GFPT2	179676468	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.669000	0.83911	2.793000	0.96121	0.561000	0.74099	.		0.587	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	Intron	5	37	1	0	0.000602214	1	0.000649039	5	37				
DNAH8	1769	broad.mit.edu	37	6	38879306	38879306	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38879306A>C	ENST00000359357.3	+	64	9406	c.9152A>C	c.(9151-9153)aAc>aCc	p.N3051T	DNAH8_ENST00000449981.2_Missense_Mutation_p.N3268T|DNAH8_ENST00000441566.1_Missense_Mutation_p.N3015T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3051	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTTATAAAAACATTTATGCT	0.358																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(9151-9153)aAc>aCc		dynein, axonemal, heavy chain 8							69.0	70.0	70.0					6																	38879306		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38879306A>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9152A>C	6.37:g.38879306A>C	ENSP00000352312:p.Asn3051Thr					DNAH8_ENST00000441566.1_Missense_Mutation_p.N3015T|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3268T	p.N3051T							64	9406	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9152A>C		.	.	.	.	.	.	.	.	.	.	A	4.512	0.094996	0.08681	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.44083	0.93;0.93;0.93	5.78	2.0	0.26442	Dynein heavy chain, P-loop containing D4 domain (1);	0.354254	0.32204	N	0.006433	T	0.03915	0.0110	N	0.01824	-0.7	0.26520	N	0.974444	B	0.02656	0.0	B	0.06405	0.002	T	0.44360	-0.9333	10	0.12103	T	0.63	.	5.667	0.17700	0.6585:0.1315:0.21:0.0	.	3051	Q96JB1	DYH8_HUMAN	T	3256;3256;3051;3015	ENSP00000333363:N3256T;ENSP00000352312:N3051T;ENSP00000402294:N3015T	ENSP00000333363:N3256T	N	+	2	0	DNAH8	38987284	0.823000	0.29233	0.995000	0.50966	0.684000	0.39900	1.749000	0.38319	0.113000	0.18004	-0.371000	0.07208	AAC		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	57	0	0	0	1	0	4	57				
ITPKC	80271	broad.mit.edu	37	19	41223437	41223437	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223437A>C	ENST00000263370.2	+	1	430	c.397A>C	c.(397-399)Acg>Ccg	p.T133P	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	133					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCTGGAGACGACTTGTCT	0.607																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(397-399)Acg>Ccg		inositol-trisphosphate 3-kinase C							73.0	83.0	79.0					19																	41223437		2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223437A>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.397A>C	19.37:g.41223437A>C	ENSP00000263370:p.Thr133Pro						p.T133P	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	430	+			133					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.397A>C	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	A	2.755	-0.259270	0.05791	.	.	ENSG00000086544	ENST00000263370	.	.	.	3.6	2.54	0.30619	.	1.159190	0.06617	N	0.756678	T	0.22044	0.0531	N	0.19112	0.55	0.24652	N	0.993515	P	0.36438	0.553	B	0.32465	0.146	T	0.18681	-1.0329	9	0.30078	T	0.28	0.6293	6.2189	0.20671	0.5883:0.0:0.0:0.4117	.	133	Q96DU7	IP3KC_HUMAN	P	133	.	ENSP00000263370:T133P	T	+	1	0	ITPKC	45915277	0.658000	0.27402	0.651000	0.29564	0.089000	0.18198	0.280000	0.18790	0.697000	0.31718	0.397000	0.26171	ACG		0.607	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		4	61	0	0	0	1	0	4	61				
FBXW7	55294	broad.mit.edu	37	4	153244280	153244280	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153244280G>T	ENST00000281708.4	-	12	3106	c.1877C>A	c.(1876-1878)gCt>gAt	p.A626D	FBXW7_ENST00000603841.1_Missense_Mutation_p.A626D|FBXW7_ENST00000393956.3_Missense_Mutation_p.A450D|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.A546D|FBXW7_ENST00000603548.1_Missense_Mutation_p.A626D|FBXW7_ENST00000296555.5_Missense_Mutation_p.A508D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	626					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAGGTCACAGCACTCTGATG	0.348			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1876-1878)gCt>gAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							69.0	66.0	67.0					4																	153244280		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244280G>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1877C>A	4.37:g.153244280G>T	ENSP00000281708:p.Ala626Asp					FBXW7_ENST00000603841.1_Missense_Mutation_p.A626D|FBXW7_ENST00000296555.5_Missense_Mutation_p.A508D|FBXW7_ENST00000393956.3_Missense_Mutation_p.A450D|FBXW7_ENST00000263981.5_Missense_Mutation_p.A546D|FBXW7_ENST00000603548.1_Missense_Mutation_p.A626D	p.A626D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3106	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	626					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1877C>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412908	0.62511	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.61898	-0.6968	10	0.87932	D	0	-19.3425	19.7667	0.96346	0.0:0.0:1.0:0.0	.	450;626;508;546	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	D	626;508;546;450	ENSP00000281708:A626D;ENSP00000296555:A508D;ENSP00000263981:A546D;ENSP00000377528:A450D	ENSP00000263981:A546D	A	-	2	0	FBXW7	153463730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.681000	0.91329	0.655000	0.94253	GCT		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			10	33	1	0	4.68919e-08	1	5.58064e-08	10	33				
LCP1	3936	broad.mit.edu	37	13	46730704	46730704	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46730704C>A	ENST00000398576.2	-	8	748	c.360G>T	c.(358-360)gaG>gaT	p.E120D	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Splice_Site_p.E120D			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	120	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACTTTTCTTCCTCTGCAAGTA	0.373			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.e8-1		lymphocyte cytosolic protein 1 (L-plastin)							178.0	175.0	176.0					13																	46730704		2203	4300	6503	SO:0001630	splice_region_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730704C>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.359-1G>T	13.37:g.46730704C>A						LCP1_ENST00000323076.2_Splice_Site_p.E120_splice	p.E120_splice			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	748	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	120			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Splice_Site	SNP	ENST00000398576.2	37	c.358_splice	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788816	0.49997	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95821	-3.82;-3.82;-3.82	5.55	5.55	0.83447	Calponin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92264	0.7546	N	0.25426	0.745	0.80722	D	1	P	0.42993	0.797	B	0.42138	0.377	D	0.90787	0.4683	10	0.23302	T	0.38	.	18.854	0.92244	0.0:1.0:0.0:0.0	.	120	P13796	PLSL_HUMAN	D	120	ENSP00000315757:E120D;ENSP00000381581:E120D;ENSP00000408052:E120D	ENSP00000315757:E120D	E	-	3	2	LCP1	45628705	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.803000	0.62546	2.760000	0.94817	0.655000	0.94253	GAG		0.373	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	Missense_Mutation	11	136	1	0	5.50884e-06	1	6.28354e-06	11	136				
SYNPR	132204	broad.mit.edu	37	3	63466615	63466615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63466615G>A	ENST00000295894.5	+	2	501	c.132G>A	c.(130-132)gcG>gcA	p.A44A	SYNPR_ENST00000465156.1_Silent_p.A44A|SYNPR_ENST00000479198.1_Silent_p.A44A|SYNPR_ENST00000478300.1_Silent_p.A64A|SYNPR_ENST00000460711.1_Silent_p.A55A|SYNPR_ENST00000478744.1_3'UTR|SYNPR-AS1_ENST00000488201.1_RNA	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	44	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TCGACATAGCGTTTGCCTACC	0.478																																					NSCLC(29;1052 1116 20025 32519)	ENST00000478300.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(190-192)gcG>gcA		synaptoporin							155.0	157.0	157.0					3																	63466615		1999	4163	6162	SO:0001819	synonymous_variant	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63466615G>A	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.132G>A	3.37:g.63466615G>A						SYNPR_ENST00000465156.1_Silent_p.A44A|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000479198.1_Silent_p.A44A|SYNPR_ENST00000295894.5_Silent_p.A44A|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.A55A	p.A64A	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	3	603	+			44			MARVEL.		B2R675|G5E9W4	Silent	SNP	ENST00000295894.5	37	c.192G>A	CCDS46860.1																																																																																				0.478	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			51	69	0	0	0	1	0	51	69				
PLA1A	51365	broad.mit.edu	37	3	119328400	119328400	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119328400G>T	ENST00000273371.4	+	4	611	c.539G>T	c.(538-540)gGa>gTa	p.G180V	PLA1A_ENST00000488919.1_Missense_Mutation_p.G7V|PLA1A_ENST00000494440.1_Missense_Mutation_p.G164V|PLA1A_ENST00000495992.1_Missense_Mutation_p.G164V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	180					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCTCTTCGGAGGCCAGCTG	0.532																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(538-540)gGa>gTa		phospholipase A1 member A							108.0	105.0	106.0					3																	119328400		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119328400G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.539G>T	3.37:g.119328400G>T	ENSP00000273371:p.Gly180Val					PLA1A_ENST00000488919.1_Missense_Mutation_p.G7V|PLA1A_ENST00000494440.1_Missense_Mutation_p.G164V|PLA1A_ENST00000495992.1_Missense_Mutation_p.G164V	p.G180V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			4	611	+			180					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.539G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531387	0.27387	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	5.31	0.377	0.16198	Lipase, N-terminal (1);	0.840288	0.11397	N	0.568242	D	0.87767	0.6260	L	0.48174	1.505	0.43226	D	0.99511	B;B	0.25904	0.113;0.137	B;B	0.28991	0.059;0.097	T	0.78043	-0.2358	10	0.33940	T	0.23	-0.779	8.8225	0.35034	0.574:0.0:0.426:0.0	.	164;180	Q53H76-3;Q53H76	.;PLA1A_HUMAN	V	180;7;164;164;46	ENSP00000273371:G180V;ENSP00000420625:G7V;ENSP00000417326:G164V;ENSP00000418793:G164V;ENSP00000417295:G46V	ENSP00000273371:G180V	G	+	2	0	PLA1A	120811090	0.000000	0.05858	0.996000	0.52242	0.806000	0.45545	0.509000	0.22707	0.100000	0.17581	-0.367000	0.07326	GGA		0.532	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			15	89	1	0	1.15088e-07	1	1.35723e-07	15	89				
MUC5B	727897	broad.mit.edu	37	11	1269149	1269149	+	Missense_Mutation	SNP	C	C	T	rs201887607	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1269149C>T	ENST00000529681.1	+	31	11097	c.11039C>T	c.(11038-11040)aCg>aTg	p.T3680M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3683M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3680	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAGCTCTACGGCCACGCCC	0.607													c|||	6	0.00119808	0.003	0.0	5008	,	,		16199	0.0		0.001	False		,,,				2504	0.001					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11047-11049)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming		C	MET/THR	5,4105		0,5,2050	104.0	127.0	120.0		11039	-2.9	0.0	11		120	2,8292		0,2,4145	no	missense	MUC5B	NM_002458.2	81	0,7,6195	TT,TC,CC		0.0241,0.1217,0.0564	possibly-damaging	3680/5763	1269149	7,12397	2055	4147	6202	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269149C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11039C>T	11.37:g.1269149C>T	ENSP00000436812:p.Thr3680Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.T3680M|RP11-532E4.2_ENST00000532061.2_RNA	p.T3683M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11106	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3680	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11048C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	2.491	-0.317376	0.05386	0.001217	2.41E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.26518	1.73;1.88	3.47	-2.91	0.05631	.	.	.	.	.	T	0.14184	0.0343	L	0.38531	1.155	0.09310	N	1	P;B	0.34587	0.458;0.313	B;B	0.17098	0.017;0.011	T	0.10222	-1.0639	9	0.87932	D	0	.	6.292	0.21065	0.0:0.5925:0.129:0.2786	.	4208;3683	A7Y9J9;E9PBJ0	.;.	M	3680;3683;3652;3585	ENSP00000436812:T3680M;ENSP00000415793:T3683M	ENSP00000343037:T3652M	T	+	2	0	MUC5B	1225725	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.193000	0.09573	-0.680000	0.05211	-2.979000	0.00080	ACG		0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		46	94	0	0	0	1	0	46	94				
SCN3A	6328	broad.mit.edu	37	2	165986696	165986696	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986696G>A	ENST00000360093.3	-	17	3167	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	SCN3A_ENST00000283254.7_Silent_p.I892I|SCN3A_ENST00000409101.3_Silent_p.I843I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	892					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAATGAAGACGATGATGGCCA	0.468																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2674-2676)atC>atT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						167.0	161.0	163.0					2																	165986696		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986696G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2676C>T	2.37:g.165986696G>A						SCN3A_ENST00000409101.3_Silent_p.I843I|SCN3A_ENST00000283254.7_Silent_p.I892I	p.I892I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3167	-			892					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.2676C>T																																																																																					0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		62	70	0	0	0	1	0	62	70				
RASSF2	9770	broad.mit.edu	37	20	4776463	4776463	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4776463C>T	ENST00000379400.3	-	5	480	c.285G>A	c.(283-285)caG>caA	p.Q95Q	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Silent_p.Q95Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	95					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCACTCACCCCTGAGCCCCCA	0.592																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(283-285)caG>caA		Ras association (RalGDS/AF-6) domain family member 2							117.0	111.0	113.0					20																	4776463		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776463C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.285G>A	20.37:g.4776463C>T						RASSF2_ENST00000379376.2_Silent_p.Q95Q	p.Q95Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			5	480	-			95					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.285G>A	CCDS13083.1																																																																																				0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		38	63	0	0	0	1	0	38	63				
ADAMTS15	170689	broad.mit.edu	37	11	130331475	130331475	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130331475A>G	ENST00000299164.2	+	2	1049	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	350	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTCATTGAGGACGATGGGCTT	0.607																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1048-1050)gAc>gGc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							124.0	96.0	105.0					11																	130331475		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130331475A>G	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1049A>G	11.37:g.130331475A>G	ENSP00000299164:p.Asp350Gly						p.D350G	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	2	1049	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	350			Peptidase M12B.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1049A>G	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595517	0.86953	.	.	ENSG00000166106	ENST00000299164	D	0.89485	-2.52	5.92	5.92	0.95590	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.94814	0.8325	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95366	0.8460	9	0.87932	D	0	.	16.3648	0.83312	1.0:0.0:0.0:0.0	.	350	Q8TE58	ATS15_HUMAN	G	350	ENSP00000299164:D350G	ENSP00000299164:D350G	D	+	2	0	ADAMTS15	129836685	1.000000	0.71417	0.985000	0.45067	0.712000	0.41017	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	GAC		0.607	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		31	38	0	0	0	1	0	31	38				
JMY	133746	broad.mit.edu	37	5	78610358	78610358	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78610358T>C	ENST00000396137.4	+	9	2805	c.2343T>C	c.(2341-2343)ccT>ccC	p.P781P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	781	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P427P(1)|p.P781P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.468																																						ENST00000396137.4																			2	Substitution - coding silent(2)	p.P427P(1)|p.P781P(1)	urinary_tract(2)	endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2341-2343)ccT>ccC		junction mediating and regulatory protein, p53 cofactor							206.0	210.0	209.0					5																	78610358		2048	4195	6243	SO:0001819	synonymous_variant	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610358T>C	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2343T>C	5.37:g.78610358T>C						JMY_ENST00000412001.1_Intron	p.P781P	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2805	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	781			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.2343T>C	CCDS4047.3																																																																																				0.468	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		9	127	0	0	0	1	0	9	127				
PLD1	5337	broad.mit.edu	37	3	171417543	171417543	+	Nonsense_Mutation	SNP	G	G	A	rs200206423	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171417543G>A	ENST00000351298.4	-	12	1345	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	PLD1_ENST00000356327.5_Nonsense_Mutation_p.R407*|PLD1_ENST00000340989.4_Nonsense_Mutation_p.R407*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R407*	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	407					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCTTTTCGTTTAAGAATG	0.383													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17863	0.001		0.0	False		,,,				2504	0.0				NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1219-1221)Cga>Tga		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						252.0	257.0	255.0					3																	171417543		2203	4300	6503	SO:0001587	stop_gained	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171417543G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1219C>T	3.37:g.171417543G>A	ENSP00000342793:p.Arg407*					PLD1_ENST00000340989.4_Nonsense_Mutation_p.R407*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R407*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R407*	p.R407*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		12	1289	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		407						Nonsense_Mutation	SNP	ENST00000351298.4	37	c.1219C>T	CCDS3216.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	38	7.110723	0.98070	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	.	.	.	4.88	3.99	0.46301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9	12.8335	0.57759	0.0:0.0:0.6529:0.3471	.	.	.	.	X	407	.	ENSP00000340326:R407X	R	-	1	2	PLD1	172900237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.383000	0.52471	1.408000	0.46895	0.650000	0.86243	CGA		0.383	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		151	208	0	0	0	1	0	151	208				
ASXL1	171023	broad.mit.edu	37	20	30954259	30954259	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30954259A>C	ENST00000375687.4	+	2	554	c.130A>C	c.(130-132)Aag>Cag	p.K44Q	ASXL1_ENST00000375689.1_Missense_Mutation_p.K40Q|ASXL1_ENST00000542461.1_Missense_Mutation_p.K44Q|ASXL1_ENST00000306058.5_Missense_Mutation_p.K40Q|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	44					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAAGGACTAAAGGAAATGAG	0.373			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(130-132)Aag>Cag		additional sex combs like 1 (Drosophila)							246.0	222.0	230.0					20																	30954259		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:30954259A>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.130A>C	20.37:g.30954259A>C	ENSP00000364839:p.Lys44Gln					ASXL1_ENST00000306058.5_Missense_Mutation_p.K40Q|ASXL1_ENST00000542461.1_Missense_Mutation_p.K44Q|ASXL1_ENST00000375689.1_Missense_Mutation_p.K40Q|ASXL1_ENST00000470145.1_3'UTR	p.K44Q	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			2	554	+			44					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.130A>C	CCDS13201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.164427|4.164427	0.78339|0.78339	.|.	.|.	ENSG00000171456|ENSG00000171456	ENST00000358956;ENST00000542189;ENST00000375687;ENST00000542461;ENST00000421155;ENST00000412498;ENST00000375689;ENST00000306058|ENST00000497249	T;T|.	0.36699|.	1.24;1.32|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70168|0.70168	0.3193|0.3193	M|M	0.68593|0.68593	2.085|2.085	0.53005|0.53005	D|D	0.999968|0.999968	D|.	0.71674|.	0.998|.	D|.	0.75020|.	0.985|.	T|T	0.70215|0.70215	-0.4933|-0.4933	10|6	0.72032|.	D|.	0.01|.	-17.0632|-17.0632	12.2823|12.2823	0.54771|0.54771	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	44|.	Q8IXJ9|.	ASXL1_HUMAN|.	Q|T	44;44;44;44;44;34;40;40|32	ENSP00000364839:K44Q;ENSP00000305119:K40Q|.	ENSP00000305119:K40Q|.	K|K	+|+	1|2	0|0	ASXL1|ASXL1	30417920|30417920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.548000|7.548000	0.82154|0.82154	2.164000|2.164000	0.68074|0.68074	0.523000|0.523000	0.50628|0.50628	AAG|AAA		0.373	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		38	62	0	0	0	1	0	38	62				
KCTD10	83892	broad.mit.edu	37	12	109889431	109889431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109889431C>T	ENST00000228495.6	-	7	1192	c.911G>A	c.(910-912)cGc>cAc	p.R304H	KCTD10_ENST00000540411.1_Missense_Mutation_p.R278H|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.R123H|KCTD10_ENST00000540089.1_Missense_Mutation_p.R123H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	304					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTCATCAGGGCGCTTGATGTG	0.706																																						ENST00000228495.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(910-912)cGc>cAc		potassium channel tetramerization domain containing 10							61.0	56.0	57.0					12																	109889431		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109889431C>T	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.911G>A	12.37:g.109889431C>T	ENSP00000228495:p.Arg304His					KCTD10_ENST00000540411.1_Missense_Mutation_p.R278H|KCTD10_ENST00000540089.1_Missense_Mutation_p.R123H|KCTD10_ENST00000424763.2_Missense_Mutation_p.R123H|KCTD10_ENST00000538161.1_5'UTR	p.R304H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			7	1192	-			304					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.911G>A	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.835488|5.835488	0.97003|0.97003	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000538161|ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411	.|T;T	.|0.53640	.|0.68;0.61	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.055763	.|0.64402	.|N	.|0.000001	T|T	0.69124|0.69124	0.3076|0.3076	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.991	T|T	0.70916|0.70916	-0.4742|-0.4742	5|10	.|0.66056	.|D	.|0.02	-18.3631|-18.3631	18.1022|18.1022	0.89509|0.89509	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|278;281;304	.|F5GWA4;Q9H3F6-2;Q9H3F6	.|.;.;BACD3_HUMAN	T|H	270|304;123;146;123;278	.|ENSP00000228495:R304H;ENSP00000441672:R278H	.|ENSP00000228495:R304H	A|R	-|-	1|2	0|0	KCTD10|KCTD10	108373814|108373814	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.933000|0.933000	0.57130|0.57130	7.609000|7.609000	0.82925|0.82925	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.706	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		12	35	0	0	0	1	0	12	35				
TTN	7273	broad.mit.edu	37	2	179500811	179500811	+	Silent	SNP	G	G	A	rs531726095		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500811G>A	ENST00000591111.1	-	176	36788	c.36564C>T	c.(36562-36564)ggC>ggT	p.G12188G	TTN_ENST00000460472.2_Silent_p.G4764G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G4889G|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.G11261G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.G13829G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Silent_p.G4956G|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12188	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G11261G(1)|p.G4889G(1)|p.G4956G(1)|p.G4764G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCAATGACGCCTGGCACAA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		17488	0.001		0.0	False		,,,				2504	0.0					ENST00000589042.1																			4	Substitution - coding silent(4)	p.G11261G(1)|p.G4889G(1)|p.G4956G(1)|p.G4764G(1)	prostate(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41485-41487)ggC>ggT		titin							86.0	89.0	88.0					2																	179500811		2041	4185	6226	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500811G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36564C>T	2.37:g.179500811G>A						TTN_ENST00000460472.2_Silent_p.G4764G|TTN_ENST00000342992.6_Silent_p.G11261G|TTN_ENST00000359218.5_Silent_p.G4889G|TTN_ENST00000342175.6_Silent_p.G4956G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G12188G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.G13829G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	41711	-			12188			Ig-like 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.41487C>T																																																																																					0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	49	0	0	0	1	0	22	49				
NPM1	4869	broad.mit.edu	37	5	170827849	170827849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170827849C>T	ENST00000296930.5	+	8	890	c.589C>T	c.(589-591)Cga>Tga	p.R197*	NPM1_ENST00000393820.2_Nonsense_Mutation_p.R197*|NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Nonsense_Mutation_p.R197*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	197					cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGTCTATACGAGATACTCC	0.398			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(589-591)Cga>Tga		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							88.0	82.0	84.0					5																	170827849		2203	4300	6503	SO:0001587	stop_gained	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170827849C>T	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.589C>T	5.37:g.170827849C>T	ENSP00000296930:p.Arg197*					NPM1_ENST00000517671.1_Nonsense_Mutation_p.R197*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.R197*|NPM1_ENST00000351986.6_Intron	p.R197*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	890	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	197					A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Nonsense_Mutation	SNP	ENST00000296930.5	37	c.589C>T	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	C	37	6.453021	0.97581	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000393820	.	.	.	4.39	3.49	0.39957	.	1.077820	0.07266	U	0.868279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7769	0.46354	0.1902:0.8098:0.0:0.0	.	.	.	.	X	197	.	ENSP00000296930:R197X	R	+	1	2	NPM1	170760454	0.958000	0.32768	0.996000	0.52242	0.933000	0.57130	1.235000	0.32671	0.920000	0.36970	0.561000	0.74099	CGA		0.398	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		7	31	0	0	0	1	0	7	31				
MAP2	4133	broad.mit.edu	37	2	210588343	210588343	+	Intron	SNP	G	G	A	rs559897682		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210588343G>A	ENST00000360351.4	+	13	5579				RNA5SP118_ENST00000410385.1_RNA|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Missense_Mutation_p.D401N|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAAGAAGATCGATTTTAGCAA	0.413																																					Pancreas(27;423 979 28787 29963)	ENST00000199940.6																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1201-1203)Gat>Aat		microtubule-associated protein 2	Estramustine(DB01196)						95.0	94.0	95.0					2																	210588343		2203	4300	6503	SO:0001627	intron_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210588343G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5074-2090G>A	2.37:g.210588343G>A						MAP2_ENST00000360351.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Intron	p.D401N	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	1641	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1674					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1201G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134574	0.94517	.	.	ENSG00000078018	ENST00000199940	D	0.98531	-4.98	5.5	5.5	0.81552	.	.	.	.	.	D	0.98131	0.9383	M	0.66939	2.045	0.80722	D	1	B	0.33739	0.422	P	0.44732	0.459	D	0.98404	1.0569	9	0.52906	T	0.07	.	19.3947	0.94603	0.0:0.0:1.0:0.0	.	401	Q8IUX2	.	N	401	ENSP00000199940:D401N	ENSP00000199940:D401N	D	+	1	0	MAP2	210296588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.574000	0.86865	0.655000	0.94253	GAT		0.413	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		6	42	0	0	0	1	0	6	42				
HCN1	348980	broad.mit.edu	37	5	45262378	45262378	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:45262378G>A	ENST00000303230.4	-	8	2375	c.2318C>T	c.(2317-2319)gCg>gTg	p.A773V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	773					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTTGTGAAGCGCCTGCGTGCT	0.637																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2317-2319)gCg>gTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							79.0	76.0	77.0					5																	45262378		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262378G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2318C>T	5.37:g.45262378G>A	ENSP00000307342:p.Ala773Val						p.A773V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2375	-			773						Missense_Mutation	SNP	ENST00000303230.4	37	c.2318C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984243	0.74474	.	.	ENSG00000164588	ENST00000303230	T	0.79749	-1.3	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000007	D	0.83603	0.5290	L	0.59436	1.845	0.58432	D	0.999993	D	0.67145	0.996	P	0.50570	0.644	D	0.85665	0.1291	10	0.62326	D	0.03	.	18.7131	0.91666	0.0:0.0:1.0:0.0	.	773	O60741	HCN1_HUMAN	V	773	ENSP00000307342:A773V	ENSP00000307342:A773V	A	-	2	0	HCN1	45298135	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.413000	0.97351	2.491000	0.84063	0.655000	0.94253	GCG		0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		15	29	0	0	0	1	0	15	29				
DYSF	8291	broad.mit.edu	37	2	71795164	71795164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71795164G>T	ENST00000258104.3	+	25	2872	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	DYSF_ENST00000409366.1_Missense_Mutation_p.K866N|DYSF_ENST00000394120.2_Missense_Mutation_p.K866N|DYSF_ENST00000409651.1_Missense_Mutation_p.K897N|DYSF_ENST00000429174.2_Missense_Mutation_p.K865N|DYSF_ENST00000410041.1_Missense_Mutation_p.K883N|DYSF_ENST00000409744.1_Missense_Mutation_p.K852N|DYSF_ENST00000413539.2_Missense_Mutation_p.K896N|DYSF_ENST00000409582.3_Missense_Mutation_p.K882N|DYSF_ENST00000409762.1_Missense_Mutation_p.K882N|DYSF_ENST00000410020.3_Missense_Mutation_p.K883N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	865					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGATGAGAAGGAGTTCAACC	0.582																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2593-2595)aaG>aaT		dysferlin							166.0	154.0	158.0					2																	71795164		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795164G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2595G>T	2.37:g.71795164G>T	ENSP00000258104:p.Lys865Asn					DYSF_ENST00000413539.2_Missense_Mutation_p.K896N|DYSF_ENST00000409744.1_Missense_Mutation_p.K852N|DYSF_ENST00000410020.3_Missense_Mutation_p.K883N|DYSF_ENST00000409582.3_Missense_Mutation_p.K882N|DYSF_ENST00000410041.1_Missense_Mutation_p.K883N|DYSF_ENST00000394120.2_Missense_Mutation_p.K866N|DYSF_ENST00000409762.1_Missense_Mutation_p.K882N|DYSF_ENST00000409651.1_Missense_Mutation_p.K897N|DYSF_ENST00000409366.1_Missense_Mutation_p.K866N|DYSF_ENST00000429174.2_Missense_Mutation_p.K865N	p.K865N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			25	2872	+			865					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2595G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583026	0.65992	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84370	-1.83;-1.84;-1.84;-1.84;-1.84;-1.83;-1.83;-1.84;-1.84;-1.84;-1.84	4.97	4.08	0.47627	.	0.105835	0.64402	D	0.000006	D	0.90369	0.6986	M	0.67397	2.05	0.37323	D	0.909644	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;0.995;0.997;0.995;1.0;0.984;0.986;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;P;P;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.972;0.958;0.972;0.948;1.0;0.84;0.888;1.0;0.999;0.998	D	0.91834	0.5478	10	0.66056	D	0.02	-29.8371	11.4065	0.49900	0.0903:0.0:0.9097:0.0	.	897;883;866;852;883;852;882;851;896;882;865;851;866;865	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	896;882;882;865;865;897;866;852;866;883;883	ENSP00000407046:K896N;ENSP00000387137:K882N;ENSP00000386547:K882N;ENSP00000398305:K865N;ENSP00000258104:K865N;ENSP00000386683:K897N;ENSP00000377678:K866N;ENSP00000386285:K852N;ENSP00000386512:K866N;ENSP00000386881:K883N;ENSP00000386617:K883N	ENSP00000258104:K865N	K	+	3	2	DYSF	71648672	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.759000	0.55227	1.062000	0.40625	0.549000	0.68633	AAG		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	75	1	0	0.00307968	1	0.00325696	7	75				
DNAH7	56171	broad.mit.edu	37	2	196651789	196651789	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196651789T>G	ENST00000312428.6	-	58	10923	c.10823A>C	c.(10822-10824)gAg>gCg	p.E3608A	DNAH7_ENST00000409063.1_Missense_Mutation_p.E91A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3608	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGATCTGTCTCATTGAACTC	0.403																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(10822-10824)gAg>gCg		dynein, axonemal, heavy chain 7							152.0	147.0	149.0					2																	196651789		2043	4215	6258	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196651789T>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10823A>C	2.37:g.196651789T>G	ENSP00000311273:p.Glu3608Ala					DNAH7_ENST00000409063.1_Missense_Mutation_p.E91A	p.E3608A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			58	10923	-			3608			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10823A>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298319	0.81025	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09817	2.94;2.94	4.34	4.34	0.51931	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.13388	-1.0511	10	0.54805	T	0.06	.	13.6272	0.62173	0.0:0.0:0.0:1.0	.	3608	Q8WXX0	DYH7_HUMAN	A	3608;91	ENSP00000311273:E3608A;ENSP00000386912:E91A	ENSP00000311273:E3608A	E	-	2	0	DNAH7	196360034	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.723000	0.84788	1.936000	0.56123	0.454000	0.30748	GAG		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		46	68	0	0	0	1	0	46	68				
MYH15	22989	broad.mit.edu	37	3	108181966	108181966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108181966G>T	ENST00000273353.3	-	17	1972	c.1916C>A	c.(1915-1917)aCt>aAt	p.T639N	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	639	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCACTGTCAGTACTCATGTA	0.418																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1915-1917)aCt>aAt		myosin, heavy chain 15							169.0	167.0	168.0					3																	108181966		1870	4098	5968	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108181966G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1916C>A	3.37:g.108181966G>T	ENSP00000273353:p.Thr639Asn						p.T639N	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			17	1972	-			639			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1916C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050457	0.36181	.	.	ENSG00000144821	ENST00000273353	D	0.87179	-2.22	5.65	3.84	0.44239	Myosin head, motor domain (2);	.	.	.	.	T	0.82015	0.4945	N	0.21282	0.65	0.19775	N	0.99995	B	0.34399	0.452	B	0.39971	0.315	T	0.73132	-0.4079	9	0.62326	D	0.03	.	11.682	0.51463	0.0675:0.1241:0.8085:0.0	.	639	Q9Y2K3	MYH15_HUMAN	N	639	ENSP00000273353:T639N	ENSP00000273353:T639N	T	-	2	0	MYH15	109664656	0.937000	0.31787	0.004000	0.12327	0.372000	0.29890	4.399000	0.59703	0.728000	0.32382	0.655000	0.94253	ACT		0.418	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		41	93	1	0	1.00001e-27	1	1.33502e-27	41	93				
SETX	23064	broad.mit.edu	37	9	135163640	135163640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135163640C>A	ENST00000224140.5	-	17	6489	c.6307G>T	c.(6307-6309)Ggt>Tgt	p.G2103C	SETX_ENST00000393220.1_Missense_Mutation_p.G2103C|SETX_ENST00000372169.2_Missense_Mutation_p.G2103C	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2103					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCCGTCCACCTCGGCATAGA	0.403																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6307-6309)Ggt>Tgt		senataxin							49.0	49.0	49.0					9																	135163640		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135163640C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6307G>T	9.37:g.135163640C>A	ENSP00000224140:p.Gly2103Cys					SETX_ENST00000224140.5_Missense_Mutation_p.G2103C|SETX_ENST00000393220.1_Missense_Mutation_p.G2103C	p.G2103C			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	17	6489	-		Myeloproliferative disorder(178;0.204)	2103					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6307G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	7.655	0.683773	0.14907	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90844	-2.1;-2.74;-2.19;-1.81	5.4	2.05	0.26809	.	0.570545	0.18631	N	0.135597	T	0.77922	0.4203	N	0.11673	0.155	0.34636	D	0.720136	B;B;B	0.18166	0.002;0.026;0.021	B;B;B	0.21917	0.007;0.037;0.021	T	0.71447	-0.4590	10	0.27082	T	0.32	.	6.136	0.20233	0.4445:0.464:0.0:0.0916	.	2103;2103;2103	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	C	2103;345;2103;2103	ENSP00000224140:G2103C;ENSP00000409143:G345C;ENSP00000361242:G2103C;ENSP00000376913:G2103C	ENSP00000224140:G2103C	G	-	1	0	SETX	134153461	0.981000	0.34729	0.974000	0.42286	0.968000	0.65278	0.972000	0.29409	0.757000	0.33036	-0.142000	0.14014	GGT		0.403	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		4	25	1	0	0.00909568	1	0.00947522	4	25				
CFAP57	149465	broad.mit.edu	37	1	43675487	43675487	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43675487T>C	ENST00000372492.4	+	11	2153	c.1829T>C	c.(1828-1830)tTt>tCt	p.F610S	WDR65_ENST00000528956.1_Missense_Mutation_p.F610S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		610										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCATGATGTTTGTGGGCACC	0.537																																						ENST00000372492.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1828-1830)tTt>tCt		WD repeat domain 65							173.0	139.0	150.0					1																	43675487		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43675487T>C																												ENST00000372492.4:c.1829T>C	1.37:g.43675487T>C	ENSP00000361570:p.Phe610Ser					WDR65_ENST00000528956.1_Missense_Mutation_p.F610S	p.F610S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			11	2153	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	610					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1829T>C		.	.	.	.	.	.	.	.	.	.	t	29.9	5.045785	0.93685	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.44881	0.91;3.41	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.87758	2.905	0.58432	D	0.999995	P;D	0.89917	0.941;1.0	P;D	0.80764	0.881;0.994	T	0.73541	-0.3950	10	0.49607	T	0.09	.	16.0534	0.80777	0.0:0.0:0.0:1.0	.	610;610	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	610	ENSP00000361570:F610S;ENSP00000435310:F610S	ENSP00000361570:F610S	F	+	2	0	WDR65	43448074	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.466000	0.80914	2.196000	0.70406	0.444000	0.29173	TTT		0.537	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			4	60	0	0	0	1	0	4	60				
APOBEC3D	140564	broad.mit.edu	37	22	39421574	39421574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421574G>A	ENST00000216099.8	+	4	910	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C168Y	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	168					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTTGCATACTGCTGGGAAAAC	0.527																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(502-504)tGc>tAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							268.0	244.0	252.0					22																	39421574		2203	4300	6503	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39421574G>A	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.503G>A	22.37:g.39421574G>A	ENSP00000216099:p.Cys168Tyr					APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C168Y	p.C168Y	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			4	910	+	Melanoma(58;0.04)		168					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.503G>A	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	13.91	2.378574	0.42207	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	T;T	0.66280	-0.2;-0.2	2.44	2.44	0.29823	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.81456	0.4826	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84871	0.0825	9	0.87932	D	0	.	10.9555	0.47356	0.0:0.0:1.0:0.0	.	168	Q96AK3	ABC3D_HUMAN	Y	168	ENSP00000370980:C168Y;ENSP00000216099:C168Y	ENSP00000216099:C168Y	C	+	2	0	APOBEC3D	37751520	0.998000	0.40836	0.038000	0.18304	0.137000	0.21094	3.437000	0.52863	1.652000	0.50683	0.536000	0.68110	TGC		0.527	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		12	165	0	0	0	1	0	12	165				
PLCH2	9651	broad.mit.edu	37	1	2418794	2418794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2418794G>A	ENST00000419816.2	+	7	1367	c.1093G>A	c.(1093-1095)Gct>Act	p.A365T	PLCH2_ENST00000449969.1_Missense_Mutation_p.A338T|PLCH2_ENST00000378488.3_Missense_Mutation_p.A365T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A365T			O75038	PLCH2_HUMAN	phospholipase C, eta 2	365	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGTCCTGCAGGCTGGCTGCCG	0.647																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(1012-1014)Gct>Act		phospholipase C, eta 2							52.0	54.0	53.0					1																	2418794		2167	4267	6434	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2418794G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1093G>A	1.37:g.2418794G>A	ENSP00000389803:p.Ala365Thr					PLCH2_ENST00000378486.3_Missense_Mutation_p.A365T|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.A365T|PLCH2_ENST00000419816.2_Missense_Mutation_p.A365T|PLCH2_ENST00000288766.5_Intron	p.A338T			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	7	1173	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	365			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.1012G>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769468	0.69992	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.64618	-0.11;-0.11;-0.11	4.47	2.41	0.29592	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.198191	0.43110	D	0.000615	T	0.61388	0.2343	L	0.38649	1.16	0.80722	D	1	P;P;P;P	0.48162	0.902;0.902;0.906;0.902	P;P;P;P	0.53722	0.733;0.643;0.641;0.643	T	0.61093	-0.7132	10	0.46703	T	0.11	.	11.6242	0.51136	0.0:0.0:0.579:0.4209	.	212;153;338;365	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	T	338;365;365;212;153	ENSP00000397289:A338T;ENSP00000367747:A365T;ENSP00000367749:A365T	ENSP00000278878:A153T	A	+	1	0	PLCH2	2408654	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	2.314000	0.43743	0.863000	0.35553	0.555000	0.69702	GCT		0.647	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		4	7	0	0	0	1	0	4	7				
HELB	92797	broad.mit.edu	37	12	66703903	66703903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66703903G>A	ENST00000247815.4	+	4	1254	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	399					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.D399Y(1)|p.D399N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAATTCAAGCGATGATGCATT	0.413																																						ENST00000247815.4																			2	Substitution - Missense(2)	p.D399Y(1)|p.D399N(1)	lung(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1195-1197)Gat>Aat		helicase (DNA) B							171.0	162.0	165.0					12																	66703903		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703903G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1195G>A	12.37:g.66703903G>A	ENSP00000247815:p.Asp399Asn						p.D399N	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1254	+			399					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1195G>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322661	0.23994	.	.	ENSG00000127311	ENST00000247815	T	0.13778	2.56	6.17	3.37	0.38596	.	1.943540	0.01680	N	0.026114	T	0.12774	0.0310	L	0.44542	1.39	0.09310	N	1	P	0.44006	0.824	B	0.30105	0.111	T	0.40515	-0.9559	9	.	.	.	0.3655	9.6548	0.39919	0.2636:0.0:0.7364:0.0	.	399	Q8NG08	HELB_HUMAN	N	399	ENSP00000247815:D399N	.	D	+	1	0	HELB	64990170	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.777000	0.26718	0.475000	0.27415	-0.136000	0.14681	GAT		0.413	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			74	104	0	0	0	1	0	74	104				
PPP1R10	5514	broad.mit.edu	37	6	30570286	30570286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30570286C>T	ENST00000376511.2	-	19	2692	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	714	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ggaggaggTTCGTTTCCTCCT	0.682																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2140-2142)Gaa>Aaa		protein phosphatase 1, regulatory subunit 10							22.0	25.0	24.0					6																	30570286		1498	2687	4185	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570286C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2140G>A	6.37:g.30570286C>T	ENSP00000365694:p.Glu714Lys						p.E714K	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2692	-			714			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2140G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939116	0.34189	.	.	ENSG00000204569	ENST00000376511	T	0.44482	0.92	3.78	2.9	0.33743	.	0.201129	0.33895	N	0.004443	T	0.06005	0.0156	N	0.08118	0	0.23653	N	0.9972	B	0.09022	0.002	B	0.04013	0.001	T	0.39333	-0.9619	10	0.08179	T	0.78	-5.1174	7.7642	0.28970	0.0:0.8831:0.0:0.1169	.	714	Q96QC0	PP1RA_HUMAN	K	714	ENSP00000365694:E714K	ENSP00000365694:E714K	E	-	1	0	PPP1R10	30678265	.	.	0.304000	0.25085	0.960000	0.62799	.	.	1.161000	0.42604	0.485000	0.47835	GAA		0.682	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		5	14	0	0	0	1	0	5	14				
COL7A1	1294	broad.mit.edu	37	3	48608556	48608556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48608556G>T	ENST00000328333.8	-	93	7249	c.7142C>A	c.(7141-7143)cCt>cAt	p.P2381H	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2349H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2381	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCAGGAGGCCCAGGGGA	0.632																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7141-7143)cCt>cAt		collagen, type VII, alpha 1							34.0	44.0	40.0					3																	48608556		2203	4299	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48608556G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7142C>A	3.37:g.48608556G>T	ENSP00000332371:p.Pro2381His					COL7A1_ENST00000454817.1_Missense_Mutation_p.P2349H	p.P2381H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	93	7249	-			2381			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7142C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041824	0.01997	.	.	ENSG00000114270	ENST00000328333;ENST00000454817;ENST00000422991	D;D;D	0.98701	-3.19;-3.19;-5.08	4.39	1.58	0.23477	.	0.150347	0.30428	N	0.009652	D	0.97340	0.9130	M	0.70842	2.15	0.09310	N	1	P	0.38677	0.642	P	0.44518	0.452	D	0.93228	0.6615	10	0.36615	T	0.2	.	5.7318	0.18045	0.2443:0.0:0.6149:0.1408	.	2381	Q02388	CO7A1_HUMAN	H	2381;2349;46	ENSP00000332371:P2381H;ENSP00000412569:P2349H;ENSP00000391608:P46H	ENSP00000332371:P2381H	P	-	2	0	COL7A1	48583560	0.008000	0.16893	0.032000	0.17829	0.002000	0.02628	0.335000	0.19806	-0.009000	0.14296	-0.797000	0.03246	CCT		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		16	51	1	0	1.15088e-07	1	1.35723e-07	16	51				
ZMYM3	9203	broad.mit.edu	37	X	70463819	70463819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70463819G>A	ENST00000353904.2	-	21	3479	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1093C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1100C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1098C|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1086C|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1098					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1098C(1)|p.R1098fs*22(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTTGATACGCATGGGTTTG	0.478																																						ENST00000373998.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.R1098C(1)|p.R1098fs*22(1)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3256-3258)Cgt>Tgt		zinc finger, MYM-type 3							139.0	94.0	109.0					X																	70463819		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463819G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3292C>T	X.37:g.70463819G>A	ENSP00000343909:p.Arg1098Cys					ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1100C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1098C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1093C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1098C	p.R1086C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			21	3953	-	Renal(35;0.156)		1098					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3256C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	18.34	3.602914	0.66445	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.48522	1.4;0.81;1.4;1.36;1.4	5.04	4.14	0.48551	.	0.081933	0.49916	D	0.000124	T	0.59128	0.2171	L	0.46157	1.445	0.44807	D	0.997811	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.927	T	0.62704	-0.6798	10	0.87932	D	0	-9.5507	13.2187	0.59875	0.0:0.0:0.7368:0.2632	.	1086;1098	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1098;1086;1098;1093;1100	ENSP00000322845:R1098C;ENSP00000363110:R1086C;ENSP00000343909:R1098C;ENSP00000363096:R1093C;ENSP00000363100:R1100C	ENSP00000322845:R1098C	R	-	1	0	ZMYM3	70380544	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.336000	0.33850	2.339000	0.79563	0.529000	0.55759	CGT		0.478	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		8	21	0	0	0	1	0	8	21				
UNC13C	440279	broad.mit.edu	37	15	54307635	54307635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54307635T>C	ENST00000260323.11	+	1	2535	c.2535T>C	c.(2533-2535)agT>agC	p.S845S	UNC13C_ENST00000537900.1_Silent_p.S845S|UNC13C_ENST00000545554.1_Silent_p.S845S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	845					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAGTCAAGTACCACACTTG	0.428																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2533-2535)agT>agC		unc-13 homolog C (C. elegans)							76.0	75.0	75.0					15																	54307635		1949	4136	6085	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307635T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2535T>C	15.37:g.54307635T>C						UNC13C_ENST00000260323.11_Silent_p.S845S|UNC13C_ENST00000537900.1_Silent_p.S845S	p.S845S			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2535	+			845					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.2535T>C	CCDS45264.1																																																																																				0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		22	29	0	0	0	1	0	22	29				
PIK3C2A	5286	broad.mit.edu	37	11	17113777	17113777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17113777C>T	ENST00000265970.7	-	28	4497	c.4498G>A	c.(4498-4500)Gca>Aca	p.A1500T	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1120T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1500	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTTTTGGCTGCTACATCTTTT	0.323																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4498-4500)Gca>Aca		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						128.0	120.0	123.0					11																	17113777		2199	4293	6492	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17113777C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4498G>A	11.37:g.17113777C>T	ENSP00000265970:p.Ala1500Thr					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1120T|PIK3C2A_ENST00000531428.1_5'UTR	p.A1500T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			28	4497	-			1500			PX.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4498G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372503	0.95923	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.40476	1.03;1.03	5.85	5.85	0.93711	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.70691	-0.4802	10	0.62326	D	0.03	-17.5162	20.1766	0.98178	0.0:1.0:0.0:0.0	.	1120;1500	F5H2B0;O00443	.;P3C2A_HUMAN	T	1500;1120	ENSP00000265970:A1500T;ENSP00000438687:A1120T	ENSP00000265970:A1500T	A	-	1	0	PIK3C2A	17070353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.772000	0.95346	0.655000	0.94253	GCA		0.323	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		19	24	0	0	0	1	0	19	24				
GPR6	2830	broad.mit.edu	37	6	110301030	110301030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110301030G>A	ENST00000275169.3	+	1	733	c.715G>A	c.(715-717)Ggc>Agc	p.G239S	GPR6_ENST00000414000.2_Missense_Mutation_p.G254S	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	239					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CATGGTCTTCGGCATCATGCT	0.701																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(760-762)Ggc>Agc		G protein-coupled receptor 6							18.0	16.0	16.0					6																	110301030		2193	4287	6480	SO:0001583	missense	0					integral to plasma membrane		g.chr6:110301030G>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.715G>A	6.37:g.110301030G>A	ENSP00000275169:p.Gly239Ser					GPR6_ENST00000275169.3_Missense_Mutation_p.G239S	p.G254S			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	999	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	239					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.760G>A	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795309	0.31777	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.36157	1.27;1.27	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.409390	0.24871	N	0.034936	T	0.08088	0.0202	N	0.13098	0.295	0.30403	N	0.77987	P;B	0.40660	0.726;0.253	B;B	0.34779	0.189;0.073	T	0.10382	-1.0632	10	0.62326	D	0.03	.	4.4127	0.11441	0.1981:0.1962:0.6057:0.0	.	254;239	B4DHS9;P46095	.;GPR6_HUMAN	S	239;254;239	ENSP00000406986:G254S;ENSP00000275169:G239S	ENSP00000275169:G239S	G	+	1	0	GPR6	110407723	0.658000	0.27402	0.903000	0.35520	0.670000	0.39368	1.966000	0.40481	2.586000	0.87340	0.563000	0.77884	GGC		0.701	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			6	16	0	0	0	1	0	6	16				
CSGALNACT1	55790	broad.mit.edu	37	8	19277977	19277977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19277977G>A	ENST00000454498.2	-	7	2019	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R336W	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	336					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCCTTTCCCCGAGAAAATTCT	0.473																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1006-1008)Cgg>Tgg		chondroitin sulfate N-acetylgalactosaminyltransferase 1							141.0	136.0	138.0					8																	19277977		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19277977G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1006C>T	8.37:g.19277977G>A	ENSP00000411816:p.Arg336Trp					CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R336W|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R336W	p.R336W	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	7	2019	-			336					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.1006C>T	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567957	0.65651	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.16	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75682	-0.3233	10	0.87932	D	0	-33.3648	12.0635	0.53576	0.0:0.0:0.6073:0.3927	.	336	Q8TDX6	CGAT1_HUMAN	W	336	ENSP00000411816:R336W;ENSP00000330805:R336W;ENSP00000310891:R336W;ENSP00000429809:R336W;ENSP00000442155:R336W	ENSP00000310891:R336W	R	-	1	2	CSGALNACT1	19322257	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	3.204000	0.51082	1.168000	0.42723	-0.310000	0.09108	CGG		0.473	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		5	130	0	0	0	1	0	5	130				
TRAM1	23471	broad.mit.edu	37	8	71510176	71510176	+	Missense_Mutation	SNP	G	G	A	rs545605500		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71510176G>A	ENST00000262213.2	-	4	549	c.380C>T	c.(379-381)gCg>gTg	p.A127V	TRAM1_ENST00000521425.1_Missense_Mutation_p.A41V|TRAM1_ENST00000536748.1_Missense_Mutation_p.A96V|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	127	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAGGTAGAACGCACTAAGCTG	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13259	0.0		0.0	False		,,,				2504	0.0				Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(121-123)gCg>gTg		translocation associated membrane protein 1							109.0	106.0	107.0					8																	71510176		2203	4300	6503	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71510176G>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.380C>T	8.37:g.71510176G>A	ENSP00000262213:p.Ala127Val					TRAM1_ENST00000536748.1_Missense_Mutation_p.A96V|TRAM1_ENST00000262213.2_Missense_Mutation_p.A127V|TRAM1_ENST00000521049.1_5'UTR	p.A41V			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		4	1158	-			127					B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.122C>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294498	0.23564	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748;ENST00000518678	D;D;D	0.83335	-1.71;-1.71;-1.71	5.95	5.95	0.96441	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	N	0.04387	-0.21	0.80722	D	1	B	0.21071	0.051	B	0.21360	0.034	T	0.65170	-0.6233	10	0.02654	T	1	-11.3582	20.3931	0.98965	0.0:0.0:1.0:0.0	.	127	Q15629	TRAM1_HUMAN	V	41;127;96;96	ENSP00000428052:A41V;ENSP00000262213:A127V;ENSP00000439359:A96V	ENSP00000262213:A127V	A	-	2	0	TRAM1	71672730	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.959000	0.63666	2.824000	0.97209	0.655000	0.94253	GCG		0.358	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		16	16	0	0	0	1	0	16	16				
HELZ	9931	broad.mit.edu	37	17	65212053	65212053	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65212053T>C	ENST00000358691.5	-	5	377		c.e5-2		HELZ_ENST00000580662.1_Splice_Site|HELZ_ENST00000580168.1_Splice_Site	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger							membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAATTTTTCTGCAAAACAAA	0.279																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e5-2		helicase with zinc finger							53.0	49.0	50.0					17																	65212053		1795	4067	5862	SO:0001630	splice_region_variant	9931							g.chr17:65212053T>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.211-2A>G	17.37:g.65212053T>C						HELZ_ENST00000580662.1_Splice_Site|HELZ_ENST00000580168.1_Splice_Site		NM_014877.3	NP_055692.2					5	377	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Splice_Site	SNP	ENST00000358691.5	37		CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020191	0.75275	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.496	0.67688	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HELZ	62642515	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.946000	0.75953	1.832000	0.53329	0.440000	0.28878	.		0.279	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	Intron	4	12	0	0	0	1	0	4	12				
DPP6	1804	broad.mit.edu	37	7	154143357	154143357	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154143357T>C	ENST00000377770.3	+	2	443	c.302T>C	c.(301-303)cTt>cCt	p.L101P	DPP6_ENST00000427557.1_Missense_Mutation_p.L39P|DPP6_ENST00000404039.1_Missense_Mutation_p.L37P|DPP6_ENST00000406326.1_Missense_Mutation_p.L101P|DPP6_ENST00000332007.3_Missense_Mutation_p.L39P|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	101					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATTGCACTGCTTGTCATTCTG	0.458																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(109-111)cTt>cCt		dipeptidyl-peptidase 6							161.0	163.0	163.0					7																	154143357		1965	4148	6113	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154143357T>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.302T>C	7.37:g.154143357T>C	ENSP00000367001:p.Leu101Pro					DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Missense_Mutation_p.L39P|DPP6_ENST00000406326.1_Missense_Mutation_p.L101P|DPP6_ENST00000332007.3_Missense_Mutation_p.L39P|DPP6_ENST00000377770.3_Missense_Mutation_p.L101P	p.L37P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		2	697	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	101						Missense_Mutation	SNP	ENST00000377770.3	37	c.110T>C		.	.	.	.	.	.	.	.	.	.	T	19.59	3.856410	0.71834	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.89	5.89	0.94794	.	0.061339	0.64402	D	0.000002	T	0.70064	0.3181	.	.	.	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	0.996;0.999;0.999;0.999;1.0;0.999	T	0.74124	-0.3766	9	0.87932	D	0	-15.3532	15.4958	0.75648	0.0:0.0:0.0:1.0	.	39;39;39;101;101;37	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	P	37;101;101;39;39	ENSP00000385578:L37P;ENSP00000384393:L101P;ENSP00000367001:L101P;ENSP00000328226:L39P;ENSP00000397303:L39P	ENSP00000328226:L39P	L	+	2	0	DPP6	153774290	1.000000	0.71417	0.813000	0.32504	0.551000	0.35334	7.371000	0.79600	2.247000	0.74100	0.523000	0.50628	CTT		0.458	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		48	45	0	0	0	1	0	48	45				
UGT1A1	54658	broad.mit.edu	37	2	234526719	234526719	+	Silent	SNP	G	G	A	rs28969669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526719G>A	ENST00000373450.4	+	1	429	c.366G>A	c.(364-366)tcG>tcA	p.S122S		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	125					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TATTTTTTTCGCATTGCAGGA	0.353													-|||	1	0.000199681	0.0008	0.0	5008	,	,		20606	0.0		0.0	False		,,,				2504	0.0					ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(364-366)tcG>tcA									116.0	124.0	121.0					2																	234526719		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234526719G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.366G>A	2.37:g.234526719G>A							p.S122S	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	429	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Silent	SNP	ENST00000373450.4	37	c.366G>A	CCDS33402.1																																																																																				0.353	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			49	103	0	0	0	1	0	49	103				
CLIP2	7461	broad.mit.edu	37	7	73770800	73770800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770800C>T	ENST00000395060.1	+	4	864	c.864C>T	c.(862-864)atC>atT	p.I288I	CLIP2_ENST00000361545.5_Silent_p.I288I|CLIP2_ENST00000223398.6_Silent_p.I288I			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	288						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGATCCGTATCGGCTTCCCAT	0.587																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(862-864)atC>atT		CAP-GLY domain containing linker protein 2							128.0	109.0	115.0					7																	73770800		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73770800C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.864C>T	7.37:g.73770800C>T						CLIP2_ENST00000361545.5_Silent_p.I288I|CLIP2_ENST00000395060.1_Silent_p.I288I	p.I288I	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			5	1191	+			288					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.864C>T	CCDS5569.1																																																																																				0.587	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		8	86	0	0	0	1	0	8	86				
ZFX	7543	broad.mit.edu	37	X	24197419	24197419	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197419G>A	ENST00000379177.1	+	6	605	c.178G>A	c.(178-180)Gat>Aat	p.D60N	ZFX_ENST00000304543.5_Missense_Mutation_p.D60N|ZFX_ENST00000379188.3_Missense_Mutation_p.D60N|ZFX_ENST00000338565.3_Missense_Mutation_p.D60N|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.D99N|ZFX_ENST00000459724.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	60					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGATGACCCAGATTCAGTTGT	0.388																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(178-180)Gat>Aat		zinc finger protein, X-linked							283.0	239.0	254.0					X																	24197419		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24197419G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.178G>A	X.37:g.24197419G>A	ENSP00000368475:p.Asp60Asn					ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.D60N|ZFX_ENST00000379188.3_Missense_Mutation_p.D60N|ZFX_ENST00000540034.1_Missense_Mutation_p.D99N|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.D60N	p.D60N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			6	605	+			60					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.178G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775559	0.90195	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.10860	3.04;3.04;3.04;3.01;2.83	6.13	6.13	0.99165	.	0.000000	0.64402	D	0.000001	T	0.28797	0.0714	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	0.985;0.996;0.997;1.0	P;D;D;D	0.73380	0.836;0.956;0.98;0.962	T	0.00197	-1.1930	10	0.66056	D	0.02	-10.6213	19.7251	0.96161	0.0:0.0:1.0:0.0	.	99;60;60;64	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	N	60;60;60;60;60;99;60	ENSP00000368486:D60N;ENSP00000368475:D60N;ENSP00000304985:D60N;ENSP00000441382:D99N;ENSP00000343384:D60N	ENSP00000304985:D60N	D	+	1	0	ZFX	24107340	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.730000	0.74780	2.615000	0.88500	0.597000	0.82753	GAT		0.388	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		85	138	0	0	0	1	0	85	138				
CAMSAP2	23271	broad.mit.edu	37	1	200730022	200730022	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200730022A>G	ENST00000236925.4	+	2	244	c.195A>G	c.(193-195)gaA>gaG	p.E65E	CAMSAP2_ENST00000413307.2_Silent_p.E65E|CAMSAP2_ENST00000358823.2_Silent_p.E65E			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	65					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATGACCAGGAACACATCAAAC	0.373																																						ENST00000358823.2																			0											c.(193-195)gaA>gaG		calmodulin regulated spectrin-associated protein family, member 2							169.0	171.0	170.0					1																	200730022		2203	4300	6503	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200730022A>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.195A>G	1.37:g.200730022A>G						CAMSAP2_ENST00000413307.2_Silent_p.E65E|CAMSAP2_ENST00000236925.4_Silent_p.E65E	p.E65E	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			2	465	+			65					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.195A>G																																																																																					0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		9	160	0	0	0	1	0	9	160				
ZNF79	7633	broad.mit.edu	37	9	130207444	130207444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130207444G>A	ENST00000342483.5	+	5	1871	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	RPL12_ENST00000497322.1_5'Flank|ZNF79_ENST00000543471.1_Missense_Mutation_p.V465I	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTGCCTTCGTTAGACATCA	0.557																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1465-1467)Gtt>Att		zinc finger protein 79							106.0	107.0	107.0					9																	130207444		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207444G>A	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1465G>A	9.37:g.130207444G>A	ENSP00000362446:p.Val489Ile					ZNF79_ENST00000543471.1_Missense_Mutation_p.V465I	p.V489I	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1871	+			489					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.1465G>A	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	0.139	-1.103932	0.01828	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.60299	0.2;0.2	4.07	-4.1	0.03940	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21590	0.0520	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25779	-1.0122	9	0.11485	T	0.65	.	6.6779	0.23103	0.4293:0.139:0.4317:0.0	.	489	Q15937	ZNF79_HUMAN	I	489;465	ENSP00000362446:V489I;ENSP00000438418:V465I	ENSP00000362446:V489I	V	+	1	0	ZNF79	129247265	0.000000	0.05858	0.021000	0.16686	0.338000	0.28826	-1.546000	0.02188	-1.110000	0.02992	-0.960000	0.02634	GTT		0.557	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		47	88	0	0	0	1	0	47	88				
TRMT44	152992	broad.mit.edu	37	4	8469707	8469707	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8469707A>G	ENST00000389737.4	+	9	1561	c.1561A>G	c.(1561-1563)Act>Gct	p.T521A	TRMT44_ENST00000513449.2_Missense_Mutation_p.T280A	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	521					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TGAAAAGAGGACTCAGTACAT	0.532																																						ENST00000389737.4																			0											c.(1561-1563)Act>Gct		tRNA methyltransferase 44 homolog (S. cerevisiae)							53.0	59.0	57.0					4																	8469707		2203	4300	6503	SO:0001583	missense	152992							g.chr4:8469707A>G	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1561A>G	4.37:g.8469707A>G	ENSP00000374387:p.Thr521Ala					TRMT44_ENST00000513449.2_Missense_Mutation_p.T280A	p.T521A	NM_152544.2	NP_689757.2					9	1561	+								Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	c.1561A>G	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	A	9.837	1.190117	0.21954	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.17370	2.28;2.28	5.18	4.02	0.46733	.	0.327566	0.31612	N	0.007348	T	0.14356	0.0347	L	0.46947	1.48	0.25420	N	0.988272	B;B	0.15141	0.011;0.012	B;B	0.18871	0.01;0.023	T	0.18618	-1.0331	10	0.30078	T	0.28	-12.9373	7.5262	0.27656	0.835:0.0:0.165:0.0	.	521;280	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	A	280;521;129	ENSP00000424643:T280A;ENSP00000374387:T521A	ENSP00000285635:T129A	T	+	1	0	METTL19	8520607	0.933000	0.31639	0.149000	0.22428	0.593000	0.36681	2.169000	0.42434	1.016000	0.39470	0.533000	0.62120	ACT		0.532	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		3	41	0	0	0	1	0	3	41				
SLC12A4	6560	broad.mit.edu	37	16	67980444	67980444	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67980444G>T	ENST00000316341.3	-	18	2474	c.2334C>A	c.(2332-2334)atC>atA	p.I778I	SLC12A4_ENST00000572037.1_Silent_p.I730I|SLC12A4_ENST00000422611.2_Silent_p.I780I|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Silent_p.I772I|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Silent_p.I747I|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Silent_p.I778I	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	778					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGGACTGGATGAGGTGGG	0.632																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2338-2340)atC>atA		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						57.0	60.0	59.0					16																	67980444		2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980444G>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2334C>A	16.37:g.67980444G>T						SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000572037.1_Silent_p.I730I|SLC12A4_ENST00000537830.2_Silent_p.I772I|SLC12A4_ENST00000316341.3_Silent_p.I778I|SLC12A4_ENST00000541864.2_Silent_p.I747I|SLC12A4_ENST00000576616.1_Silent_p.I778I	p.I780I	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2379	-		Ovarian(137;0.192)	778					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.2340C>A	CCDS10855.1																																																																																				0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		16	69	1	0	9.16793e-09	1	1.10245e-08	16	69				
KIAA2018	205717	broad.mit.edu	37	3	113377544	113377544	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113377544G>T	ENST00000478658.1	-	5	3002	c.2985C>A	c.(2983-2985)acC>acA	p.T995T	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.T995T			Q68DE3	K2018_HUMAN	KIAA2018	995						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGAGACCTGTGGTTTGCATTG	0.388																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(2983-2985)acC>acA		KIAA2018							115.0	106.0	109.0					3																	113377544		1851	4089	5940	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377544G>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2985C>A	3.37:g.113377544G>T						KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.T995T	p.T995T	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	3395	-			995					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.2985C>A	CCDS43133.1																																																																																				0.388	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		13	134	1	0	3.27435e-08	1	3.90559e-08	13	134				
SGMS2	166929	broad.mit.edu	37	4	108829850	108829850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108829850G>A	ENST00000394684.4	+	6	1414	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.R286Q|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.R286Q	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	286					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		ATCACAACACGACTGTTTTGG	0.423																																						ENST00000394684.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(856-858)cGa>cAa		sphingomyelin synthase 2	Choline(DB00122)						194.0	170.0	178.0					4																	108829850		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108829850G>A	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.857G>A	4.37:g.108829850G>A	ENSP00000378176:p.Arg286Gln					RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.R286Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.R286Q	p.R286Q	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	6	1414	+			286					A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.857G>A	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671455	0.96754	.	.	ENSG00000164023	ENST00000394684;ENST00000503862;ENST00000359079;ENST00000394686	T;T;T;T	0.74842	0.76;-0.88;0.76;0.76	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	P	0.62560	0.904	D	0.84871	0.0825	10	0.33940	T	0.23	-12.0321	19.5248	0.95199	0.0:0.0:1.0:0.0	.	286	Q8NHU3	SMS2_HUMAN	Q	286;113;286;286	ENSP00000378176:R286Q;ENSP00000428176:R113Q;ENSP00000351981:R286Q;ENSP00000378178:R286Q	ENSP00000351981:R286Q	R	+	2	0	SGMS2	109049299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.621000	0.88768	0.591000	0.81541	CGA		0.423	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		49	62	0	0	0	1	0	49	62				
OR5H2	79310	broad.mit.edu	37	3	98001933	98001933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98001933C>A	ENST00000355273.2	+	1	202	c.202C>A	c.(202-204)Ctt>Att	p.L68I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTACTTTTTTCTTGGGAGTTT	0.408																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(202-204)Ctt>Att		olfactory receptor, family 5, subfamily H, member 2							291.0	274.0	280.0					3																	98001933		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001933C>A		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.202C>A	3.37:g.98001933C>A	ENSP00000347418:p.Leu68Ile					RP11-325B23.2_ENST00000508616.1_lincRNA	p.L68I	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	202	+			68					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.202C>A	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164015	0.21538	.	.	ENSG00000197938	ENST00000355273	T	0.13778	2.56	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35708	U	0.003038	T	0.33118	0.0852	M	0.83483	2.645	0.26972	N	0.965564	D	0.89917	1.0	D	0.68765	0.96	T	0.06991	-1.0796	10	0.72032	D	0.01	.	6.3724	0.21489	0.0:0.8611:0.0:0.1389	.	68	Q8NGV7	OR5H2_HUMAN	I	68	ENSP00000347418:L68I	ENSP00000347418:L68I	L	+	1	0	OR5H2	99484623	0.255000	0.24002	0.319000	0.25293	0.052000	0.14988	0.821000	0.27338	1.787000	0.52448	0.543000	0.68304	CTT		0.408	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			113	179	1	0	2.19568e-55	1	2.97119e-55	113	179				
C5orf42	65250	broad.mit.edu	37	5	37153906	37153906	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37153906T>G	ENST00000508244.1	-	40	8240	c.8147A>C	c.(8146-8148)aAc>aCc	p.N2716T	C5orf42_ENST00000425232.2_Missense_Mutation_p.N2716T|C5orf42_ENST00000274258.7_Missense_Mutation_p.N1614T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2716						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAGCAATGTTCTGTATTGC	0.423																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4840-4842)aAc>aCc		chromosome 5 open reading frame 42							102.0	93.0	96.0					5																	37153906		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37153906T>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8147A>C	5.37:g.37153906T>G	ENSP00000421690:p.Asn2716Thr					C5orf42_ENST00000425232.2_Missense_Mutation_p.N2716T|C5orf42_ENST00000508244.1_Missense_Mutation_p.N2716T	p.N1614T			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		41	8428	-	all_lung(31;0.000616)		2716					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.4841A>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	8.272	0.813500	0.16537	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26660	1.72;1.72;1.77;1.77	5.41	-3.91	0.04168	.	1.166430	0.06317	N	0.703776	T	0.12305	0.0299	N	0.21373	0.66	0.09310	N	0.999999	B;B	0.19331	0.011;0.035	B;B	0.16289	0.015;0.015	T	0.36212	-0.9757	10	0.02654	T	1	.	7.0912	0.25285	0.0:0.2803:0.4068:0.3128	.	2716;1614	E9PH94;Q9H799	.;CE042_HUMAN	T	2716;2716;1614;1782;1650	ENSP00000421690:N2716T;ENSP00000389014:N2716T;ENSP00000274258:N1614T;ENSP00000424223:N1782T	ENSP00000274258:N1614T	N	-	2	0	C5orf42	37189663	0.948000	0.32251	0.020000	0.16555	0.757000	0.42996	-0.170000	0.09897	-0.994000	0.03463	-0.435000	0.05868	AAC		0.423	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		35	55	0	0	0	1	0	35	55				
SECISBP2L	9728	broad.mit.edu	37	15	49309099	49309099	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49309099G>A	ENST00000559471.1	-	10	1628	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	SECISBP2L_ENST00000261847.3_Silent_p.A410A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	455							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGTGGCAAGGGCTGCTGCTA	0.368																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1363-1365)gcC>gcT		SECIS binding protein 2-like							127.0	122.0	124.0					15																	49309099		2197	4295	6492	SO:0001819	synonymous_variant	9728							g.chr15:49309099G>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1365C>T	15.37:g.49309099G>A						SECISBP2L_ENST00000261847.3_Silent_p.A410A	p.A455A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			10	1628	-			455					Q8N767	Silent	SNP	ENST00000559471.1	37	c.1365C>T	CCDS53942.1																																																																																				0.368	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		32	44	0	0	0	1	0	32	44				
TARS2	80222	broad.mit.edu	37	1	150469060	150469060	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150469060T>C	ENST00000369064.3	+	8	911	c.877T>C	c.(877-879)Tgg>Cgg	p.W293R	TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	293					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGGGAAGCATGGAGGGAGGA	0.542																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(877-879)Tgg>Cgg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						131.0	125.0	127.0					1																	150469060		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150469060T>C	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.877T>C	1.37:g.150469060T>C	ENSP00000358060:p.Trp293Arg					TARS2_ENST00000606933.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_Intron	p.W293R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	911	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		293					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.877T>C	CCDS952.1	.	.	.	.	.	.	.	.	.	.	T	6.890	0.533656	0.13188	.	.	ENSG00000143374	ENST00000369064	.	.	.	4.92	-4.01	0.04045	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	1.329890	0.04584	N	0.395438	T	0.02156	0.0067	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30179	-0.9987	9	0.26408	T	0.33	-6.0413	5.1539	0.15025	0.1015:0.3697:0.3996:0.1292	.	293	Q9BW92	SYTM_HUMAN	R	293	.	ENSP00000358060:W293R	W	+	1	0	TARS2	148735684	0.000000	0.05858	0.001000	0.08648	0.403000	0.30841	-1.128000	0.03247	-0.543000	0.06240	0.533000	0.62120	TGG		0.542	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		69	62	0	0	0	1	0	69	62				
PLB1	151056	broad.mit.edu	37	2	28785917	28785917	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28785917T>C	ENST00000327757.5	+	18	1201	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	PLB1_ENST00000422425.2_Missense_Mutation_p.L397P|PLB1_ENST00000329020.6_Missense_Mutation_p.L74P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	386	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCATAGGCTGAAGCCGGCT	0.483																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1189-1191)cTg>cCg		phospholipase B1							80.0	77.0	78.0					2																	28785917		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28785917T>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1157T>C	2.37:g.28785917T>C	ENSP00000330442:p.Leu386Pro					PLB1_ENST00000327757.5_Missense_Mutation_p.L386P|PLB1_ENST00000329020.6_Missense_Mutation_p.L74P	p.L397P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			18	1234	+	Acute lymphoblastic leukemia(172;0.155)		386			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1190T>C	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.09|19.09	3.759347|3.759347	0.69763|0.69763	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.29655|.	1.56;1.65;1.62;1.62|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|.	0.77837|.	0.4190|.	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;1.0;0.993|.	T|.	0.80830|.	-0.1207|.	10|.	0.56958|.	D|.	0.05|.	-15.7017|-15.7017	11.7948|11.7948	0.52093|0.52093	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	397;74;386|.	Q6P1J6-3;Q6P1J6-2;Q6P1J6|.	.;.;PLB1_HUMAN|.	P|R	386;397;96;74|396	ENSP00000330442:L386P;ENSP00000416440:L397P;ENSP00000392493:L96P;ENSP00000330729:L74P|.	ENSP00000330442:L386P|.	L|X	+|+	2|1	0|0	PLB1|PLB1	28639421|28639421	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.967000|0.967000	0.64934|0.64934	4.372000|4.372000	0.59530|0.59530	2.102000|2.102000	0.63906|0.63906	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.483	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			7	54	0	0	0	1	0	7	54				
NMBR	4829	broad.mit.edu	37	6	142397024	142397024	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142397024G>T	ENST00000258042.1	-	3	1074	c.934C>A	c.(934-936)Ctc>Atc	p.L312I	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	312					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAAAACTGAGAACCCGGGCA	0.443																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(934-936)Ctc>Atc		neuromedin B receptor							85.0	84.0	84.0					6																	142397024		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397024G>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.934C>A	6.37:g.142397024G>T	ENSP00000258042:p.Leu312Ile					NMBR_ENST00000480652.1_5'UTR	p.L312I	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	1074	-	Breast(32;0.155)		312					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.934C>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821595	0.71028	.	.	ENSG00000135577	ENST00000258042	T	0.49139	0.79	5.31	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.64997	1.995	0.58432	D	0.999996	D	0.76494	0.999	D	0.78314	0.991	T	0.53968	-0.8363	10	0.52906	T	0.07	-16.9319	9.5473	0.39288	0.1906:0.0:0.8094:0.0	.	312	P28336	NMBR_HUMAN	I	312	ENSP00000258042:L312I	ENSP00000258042:L312I	L	-	1	0	NMBR	142438717	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.868000	0.56055	2.640000	0.89533	0.655000	0.94253	CTC		0.443	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			26	40	1	0	7.92952e-12	1	9.92272e-12	26	40				
FDXACB1	91893	broad.mit.edu	37	11	111746477	111746477	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111746477T>C	ENST00000260257.4	-	5	1091	c.1044A>G	c.(1042-1044)agA>agG	p.R348R	ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Silent_p.R199R|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	348					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GGAGAGAAGGTCTAAGGCAGA	0.473																																						ENST00000260257.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						c.(1042-1044)agA>agG		ferredoxin-fold anticodon binding domain containing 1							137.0	130.0	132.0					11																	111746477		1955	4158	6113	SO:0001819	synonymous_variant	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111746477T>C		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1044A>G	11.37:g.111746477T>C						ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Silent_p.R199R|ALG9_ENST00000524880.1_Intron	p.R348R	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN			5	1091	-			348					A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.1044A>G	CCDS44729.1																																																																																				0.473	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		52	50	0	0	0	1	0	52	50				
PYCARD	29108	broad.mit.edu	37	16	31213521	31213521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213521G>A	ENST00000247470.9	-	2	579	c.278C>T	c.(277-279)tCt>tTt	p.S93F	C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	93					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						CGCGGCTCCAGAGCCTGGAAG	0.697																																						ENST00000247470.9																			0				NS(1)|kidney(1)	2						c.(277-279)tCt>tTt		PYD and CARD domain containing							21.0	25.0	24.0					16																	31213521		2197	4299	6496	SO:0001583	missense	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213521G>A	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.278C>T	16.37:g.31213521G>A	ENSP00000247470:p.Ser93Phe					PYCARD_ENST00000350605.4_Intron|C16orf98_ENST00000561916.2_Intron	p.S93F	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN			2	579	-			93					Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.278C>T	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471550	0.26423	.	.	ENSG00000103490	ENST00000247470;ENST00000355986	T	0.71934	-0.61	3.16	1.15	0.20763	.	1.376260	0.04726	N	0.420321	T	0.63486	0.2515	L	0.55481	1.735	0.09310	N	0.999993	P	0.36599	0.56	B	0.35039	0.194	T	0.43972	-0.9358	10	0.11794	T	0.64	.	9.3392	0.38069	0.0:0.431:0.569:0.0	.	93	Q9ULZ3	ASC_HUMAN	F	93;33	ENSP00000247470:S93F	ENSP00000247470:S93F	S	-	2	0	PYCARD	31121022	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.642000	0.24735	0.357000	0.24183	-0.823000	0.03104	TCT		0.697	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		9	13	0	0	0	1	0	9	13				
UCMA	221044	broad.mit.edu	37	10	13276238	13276238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276238G>A	ENST00000378681.3	-	1	93	c.21C>T	c.(19-21)gtC>gtT	p.V7V	UCMA_ENST00000463405.2_Silent_p.V7V	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	7					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						AAGACAGCAGGACGGCCTGTC	0.582																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(19-21)gtC>gtT		upper zone of growth plate and cartilage matrix associated							79.0	60.0	67.0					10																	13276238		2203	4300	6503	SO:0001819	synonymous_variant	221044					proteinaceous extracellular matrix		g.chr10:13276238G>A	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.21C>T	10.37:g.13276238G>A						UCMA_ENST00000463405.2_Silent_p.V7V	p.V7V	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			1	93	-			7						Silent	SNP	ENST00000378681.3	37	c.21C>T	CCDS31147.1																																																																																				0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		3	28	0	0	0	1	0	3	28				
PDZRN3	23024	broad.mit.edu	37	3	73651590	73651590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73651590C>T	ENST00000263666.4	-	3	947	c.833G>A	c.(832-834)aGt>aAt	p.S278N	PDZRN3_ENST00000308537.4_Missense_Mutation_p.S278N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	278	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATTCCTTCACTGGATGATCC	0.408																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(832-834)aGt>aAt		PDZ domain containing ring finger 3							182.0	176.0	178.0					3																	73651590		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73651590C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.833G>A	3.37:g.73651590C>T	ENSP00000263666:p.Ser278Asn					PDZRN3_ENST00000308537.4_Missense_Mutation_p.S278N	p.S278N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	3	947	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	278			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.833G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522638	0.27211	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.27104	1.69;1.69	5.05	3.24	0.37175	PDZ/DHR/GLGF (4);	0.527203	0.21042	N	0.081152	T	0.13072	0.0317	N	0.05158	-0.105	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.06215	-1.0839	10	0.16896	T	0.51	.	15.3145	0.74062	0.0:0.7209:0.2791:0.0	.	278	Q9UPQ7	PZRN3_HUMAN	N	278	ENSP00000263666:S278N;ENSP00000308831:S278N	ENSP00000263666:S278N	S	-	2	0	PDZRN3	73734280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.248000	0.51430	0.493000	0.27837	0.563000	0.77884	AGT		0.408	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		10	151	0	0	0	1	0	10	151				
SLC6A17	388662	broad.mit.edu	37	1	110734616	110734616	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110734616A>G	ENST00000331565.4	+	7	1372	c.887A>G	c.(886-888)cAg>cGg	p.Q296R		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	296					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGACCCCCAGGTGTGGCGG	0.542																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(886-888)cAg>cGg		solute carrier family 6 (neutral amino acid transporter), member 17							84.0	98.0	93.0					1																	110734616		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110734616A>G		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.887A>G	1.37:g.110734616A>G	ENSP00000330199:p.Gln296Arg						p.Q296R	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	7	1372	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	296					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.887A>G	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.253577	0.39797	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74421	-0.84	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.45051	1.395	0.58432	D	0.999994	B	0.23806	0.091	B	0.32022	0.139	T	0.54873	-0.8228	10	0.15066	T	0.55	.	14.6626	0.68882	1.0:0.0:0.0:0.0	.	296	Q9H1V8	S6A17_HUMAN	R	296	ENSP00000330199:Q296R	ENSP00000330199:Q296R	Q	+	2	0	SLC6A17	110536139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	1.864000	0.54056	0.528000	0.53228	CAG		0.542	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		3	70	0	0	0	1	0	3	70				
UBASH3A	53347	broad.mit.edu	37	21	43829594	43829594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829594C>A	ENST00000319294.6	+	3	262	c.231C>A	c.(229-231)ttC>ttA	p.F77L	UBASH3A_ENST00000450356.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000398367.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.F77L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	77					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGCCCTTTTCCTCTGTCCAA	0.557																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(229-231)ttC>ttA		ubiquitin associated and SH3 domain containing A							107.0	101.0	103.0					21																	43829594		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43829594C>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.231C>A	21.37:g.43829594C>A	ENSP00000317327:p.Phe77Leu					UBASH3A_ENST00000398367.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.F77L|UBASH3A_ENST00000450356.1_Missense_Mutation_p.F77L	p.F77L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			3	262	+			77					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.231C>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856759	0.51376	.	.	ENSG00000160185	ENST00000291535;ENST00000450356;ENST00000319294;ENST00000398367	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.74	5.74	0.90152	.	0.337088	0.26019	N	0.026826	T	0.24044	0.0582	M	0.63843	1.955	0.34569	D	0.713258	B;B;B	0.31581	0.274;0.274;0.329	B;B;B	0.33254	0.16;0.16;0.084	T	0.35076	-0.9803	10	0.72032	D	0.01	-26.8377	9.7724	0.40598	0.0:0.8104:0.0:0.1896	.	77;77;77	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	L	77	ENSP00000291535:F77L;ENSP00000407179:F77L;ENSP00000317327:F77L;ENSP00000381408:F77L	ENSP00000291535:F77L	F	+	3	2	UBASH3A	42702663	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	1.507000	0.35758	2.723000	0.93209	0.644000	0.83932	TTC		0.557	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		6	79	1	0	0.217242	1	0.218821	6	79				
CCNB3	85417	broad.mit.edu	37	X	50053116	50053116	+	Silent	SNP	G	G	A	rs201598054		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053116G>A	ENST00000376042.1	+	6	2245	c.1947G>A	c.(1945-1947)ttG>ttA	p.L649L	CCNB3_ENST00000276014.7_Silent_p.L649L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	649					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATACCACCTTGCAGGAAGTGT	0.428																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1945-1947)ttG>ttA		cyclin B3							51.0	44.0	46.0					X																	50053116		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053116G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1947G>A	X.37:g.50053116G>A						CCNB3_ENST00000276014.7_Silent_p.L649L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron	p.L649L			Q8WWL7	CCNB3_HUMAN			6	2245	+	Ovarian(276;0.236)		649					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.1947G>A	CCDS14331.1																																																																																				0.428	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	22	0	0	0	1	0	6	22				
FMR1	2332	broad.mit.edu	37	X	147013976	147013976	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147013976A>G	ENST00000370475.4	+	8	791	c.663A>G	c.(661-663)gaA>gaG	p.E221E	FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000218200.8_Silent_p.E221E|FMR1_ENST00000439526.2_Silent_p.E221E|FMR1_ENST00000370477.1_Silent_p.E221E|FMR1_ENST00000370471.3_Silent_p.E221E|FMR1_ENST00000334557.6_Silent_p.E221E|FMR1_ENST00000370470.1_Silent_p.E221E	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	221					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTCATGAACAGTTTATCG	0.418									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(661-663)gaA>gaG		fragile X mental retardation 1							144.0	132.0	136.0					X																	147013976		2203	4300	6503	SO:0001819	synonymous_variant	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147013976A>G	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.663A>G	X.37:g.147013976A>G						FMR1_ENST00000370475.4_Silent_p.E221E|FMR1_ENST00000370477.1_Silent_p.E221E|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Silent_p.E221E|FMR1_ENST00000370471.3_Silent_p.E221E|FMR1_ENST00000334557.6_Silent_p.E221E|FMR1_ENST00000370470.1_Silent_p.E221E	p.E221E	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			8	892	+	Acute lymphoblastic leukemia(192;6.56e-05)		221					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	ENST00000370475.4	37	c.663A>G	CCDS14682.1																																																																																				0.418	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		48	84	0	0	0	1	0	48	84				
NSUN5	55695	broad.mit.edu	37	7	72717608	72717608	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72717608G>A	ENST00000252594.6	-	9	1290	c.1275C>T	c.(1273-1275)gtC>gtT	p.V425V	NSUN5_ENST00000428206.1_Silent_p.V387V|NSUN5_ENST00000310326.8_Silent_p.V425V|NSUN5_ENST00000438747.2_Silent_p.V425V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	425				V -> A (in Ref. 3; BAG54316). {ECO:0000305}.	rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGGCACCTCGACCCGTTCAA	0.612																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1159-1161)gtC>gtT		NOP2/Sun domain family, member 5							97.0	87.0	91.0					7																	72717608		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72717608G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1275C>T	7.37:g.72717608G>A						NSUN5_ENST00000252594.6_Silent_p.V425V|NSUN5_ENST00000438747.2_Silent_p.V425V|NSUN5_ENST00000310326.8_Silent_p.V425V	p.V387V	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			9	1174	-		Lung NSC(55;0.163)	425					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.1161C>T	CCDS5547.1																																																																																				0.612	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		26	27	0	0	0	1	0	26	27				
MED12	9968	broad.mit.edu	37	X	70352363	70352363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70352363G>A	ENST00000374080.3	+	31	4422	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	MED12_ENST00000333646.6_Missense_Mutation_p.E1464K|MED12_ENST00000374102.1_Missense_Mutation_p.E1464K			Q93074	MED12_HUMAN	mediator complex subunit 12	1464					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCACGCAAAGAACGTGATCG	0.517			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4390-4392)Gaa>Aaa		mediator complex subunit 12							53.0	48.0	50.0					X																	70352363		1908	4123	6031	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70352363G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4390G>A	X.37:g.70352363G>A	ENSP00000363193:p.Glu1464Lys					MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.E1464K|MED12_ENST00000374080.3_Missense_Mutation_p.E1464K	p.E1464K	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			31	4589	+	Renal(35;0.156)		1464					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4390G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895416	0.91962	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;T;D;T;T	0.83914	-1.78;-0.0;-1.78;-0.0;1.36	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	M	0.68952	2.095	0.80722	D	1	D;P;B;D	0.65815	0.995;0.95;0.34;0.992	D;P;B;D	0.65140	0.932;0.621;0.437;0.913	D	0.89634	0.3857	10	0.49607	T	0.09	-12.8582	16.1804	0.81895	0.0:0.0:1.0:0.0	.	1464;1311;1464;1464	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	K	1464;1464;1464;1464;1432;209	ENSP00000333125:E1464K;ENSP00000363215:E1464K;ENSP00000363193:E1464K;ENSP00000414203:E1432K;ENSP00000408388:E209K	ENSP00000333125:E1464K	E	+	1	0	MED12	70269088	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	2.071000	0.62044	0.523000	0.50628	GAA		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	4	0	0	0	1	0	4	4				
ZNF573	126231	broad.mit.edu	37	19	38229677	38229677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38229677G>A	ENST00000590414.2	-	4	1735	c.1714C>T	c.(1714-1716)Cat>Tat	p.H572Y	ZNF573_ENST00000339503.4_Missense_Mutation_p.H514Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H484Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H485Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H484Y			Q86YE8	ZN573_HUMAN	zinc finger protein 573	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATGCTCTGATGTGCAGTAAGG	0.358																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1540-1542)Cat>Tat		zinc finger protein 573							76.0	74.0	75.0					19																	38229677		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229677G>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1714C>T	19.37:g.38229677G>A	ENSP00000465020:p.His572Tyr					ZNF573_ENST00000357309.3_Missense_Mutation_p.H484Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H485Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H484Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H572Y	p.H514Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	2041	-			552					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1540C>T	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140218	0.56936	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95376	0.8499	H	0.97611	4.04	0.31707	N	0.640037	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	D	0.93660	0.6981	9	0.87932	D	0	.	11.5334	0.50624	0.0:0.0:1.0:0.0	.	485;514;552;484	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	Y	485;484;484;514;484	ENSP00000375983:H485Y;ENSP00000440464:H484Y;ENSP00000349861:H484Y;ENSP00000340171:H514Y	ENSP00000340171:H514Y	H	-	1	0	ZNF573	42921517	1.000000	0.71417	0.637000	0.29366	0.992000	0.81027	6.067000	0.71193	1.168000	0.42723	0.585000	0.79938	CAT		0.358	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		9	91	0	0	0	1	0	9	91				
WWC1	23286	broad.mit.edu	37	5	167894882	167894882	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167894882C>T	ENST00000265293.4	+	22	3690	c.3188C>T	c.(3187-3189)aCa>aTa	p.T1063I	WWC1_ENST00000521089.1_Missense_Mutation_p.T1069I|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1063	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCTTCAGACAGACAAGATG	0.587																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(3187-3189)aCa>aTa		WW and C2 domain containing 1							77.0	74.0	75.0					5																	167894882		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167894882C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3188C>T	5.37:g.167894882C>T	ENSP00000265293:p.Thr1063Ile					WWC1_ENST00000521089.1_Missense_Mutation_p.T1069I|WWC1_ENST00000522140.1_3'UTR	p.T1063I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	22	3690	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	1063			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.3188C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842249	0.51057	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.45668	0.89;0.89;0.89	5.29	4.42	0.53409	.	0.647027	0.15514	N	0.258417	T	0.27629	0.0679	N	0.14661	0.345	0.24703	N	0.993248	B;B	0.30361	0.277;0.025	B;B	0.23852	0.049;0.008	T	0.17961	-1.0352	10	0.59425	D	0.04	.	13.8913	0.63740	0.0:0.9265:0.0:0.0735	.	1069;1063	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	I	1063;1069;394	ENSP00000265293:T1063I;ENSP00000427772:T1069I;ENSP00000428084:T394I	ENSP00000265293:T1063I	T	+	2	0	WWC1	167827460	1.000000	0.71417	0.660000	0.29694	0.971000	0.66376	5.231000	0.65327	1.234000	0.43709	0.591000	0.81541	ACA		0.587	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		7	34	0	0	0	1	0	7	34				
SKIV2L	6499	broad.mit.edu	37	6	31937356	31937356	+	Missense_Mutation	SNP	G	G	A	rs368453711		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31937356G>A	ENST00000375394.2	+	28	3718	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	STK19_ENST00000375333.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1009H|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1202					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATTCAGCGCCTGGCTGAG	0.652																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3604-3606)cGc>cAc		superkiller viralicidic activity 2-like (S. cerevisiae)		G	HIS/ARG	1,3021		0,1,1510	71.0	83.0	78.0		3605	5.4	1.0	6		78	0,5418		0,0,2709	no	missense	SKIV2L	NM_006929.4	29	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	probably-damaging	1202/1247	31937356	1,8439	1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937356G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3605G>A	6.37:g.31937356G>A	ENSP00000364543:p.Arg1202His					SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1009H	p.R1202H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			28	3718	+			1202					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3605G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874602	0.91664	3.31E-4	0.0	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.40756	1.02;1.02	5.38	5.38	0.77491	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78991	-0.1985	10	0.87932	D	0	-17.9212	17.9328	0.89004	0.0:0.0:1.0:0.0	.	1202	Q15477	SKIV2_HUMAN	H	1202;1044;1009	ENSP00000364543:R1202H;ENSP00000442645:R1009H	ENSP00000364543:R1202H	R	+	2	0	SKIV2L	32045335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.247000	0.89830	2.507000	0.84556	0.655000	0.94253	CGC		0.652	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			31	66	0	0	0	1	0	31	66				
MAML3	55534	broad.mit.edu	37	4	140641415	140641415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641415G>A	ENST00000509479.2	-	5	3335	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCCATCAGCCGTGACGTTCGC	0.587																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2479-2481)Cgg>Tgg		mastermind-like 3 (Drosophila)							109.0	112.0	111.0					4																	140641415		2107	4230	6337	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641415G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2479C>T	4.37:g.140641415G>A	ENSP00000421180:p.Arg827Trp					MGST2_ENST00000515137.1_Intron	p.R827W	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3335	-	all_hematologic(180;0.162)		823			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2479C>T	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177754	0.78564	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.32023	1.47	5.82	3.99	0.46301	.	0.000000	0.64402	D	0.000001	T	0.55194	0.1905	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.62450	-0.6852	10	0.87932	D	0	.	14.885	0.70560	0.0:0.0:0.7315:0.2685	.	827;823	E7EVW8;Q96JK9	.;MAML3_HUMAN	W	827;134	ENSP00000421180:R827W	ENSP00000421180:R827W	R	-	1	2	MAML3	140860865	1.000000	0.71417	0.632000	0.29296	0.962000	0.63368	3.312000	0.51927	1.405000	0.46838	0.563000	0.77884	CGG		0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			37	57	0	0	0	1	0	37	57				
PWP2	5822	broad.mit.edu	37	21	45544500	45544500	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45544500C>T	ENST00000291576.7	+	15	1984	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	619					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACGGCCACAGCATCCTGGCGG	0.582																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1855-1857)agC>agT		PWP2 periodic tryptophan protein homolog (yeast)							118.0	87.0	98.0					21																	45544500		2203	4300	6503	SO:0001819	synonymous_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45544500C>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1857C>T	21.37:g.45544500C>T							p.S619S	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	15	1984	+			619					B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	c.1857C>T	CCDS33579.1																																																																																				0.582	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		17	27	0	0	0	1	0	17	27				
PROM2	150696	broad.mit.edu	37	2	95950734	95950734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95950734G>A	ENST00000317620.9	+	15	1879	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	PROM2_ENST00000403131.2_Silent_p.R582R|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000317668.4_Silent_p.R582R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACAAGCTACGGCAGGAGTTGC	0.632																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1744-1746)cgG>cgA		prominin 2							33.0	30.0	31.0					2																	95950734		2203	4299	6502	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95950734G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1746G>A	2.37:g.95950734G>A						PROM2_ENST00000317668.4_Silent_p.R582R|PROM2_ENST00000403131.2_Silent_p.R582R|PROM2_ENST00000542147.1_Intron	p.R582R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			15	1879	+			582					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1746G>A	CCDS2012.1																																																																																				0.632	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		4	8	0	0	0	1	0	4	8				
TECPR1	25851	broad.mit.edu	37	7	97874290	97874290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97874290C>T	ENST00000447648.2	-	4	614	c.315G>A	c.(313-315)ccG>ccA	p.P105P	TECPR1_ENST00000542604.1_Silent_p.P26P|TECPR1_ENST00000379795.3_Silent_p.P105P			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	105					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCTGTCCAGCGGCCGGTGCT	0.637																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(313-315)ccG>ccA		tectonin beta-propeller repeat containing 1							33.0	41.0	38.0					7																	97874290		2156	4257	6413	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97874290C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.315G>A	7.37:g.97874290C>T						TECPR1_ENST00000379795.3_Silent_p.P105P|TECPR1_ENST00000542604.1_Silent_p.P26P	p.P105P			Q7Z6L1	TCPR1_HUMAN			4	614	-			105					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.315G>A	CCDS47648.1																																																																																				0.637	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		15	10	0	0	0	1	0	15	10				
TIMM10	26519	broad.mit.edu	37	11	57296339	57296339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57296339C>A	ENST00000257245.4	-	3	276	c.124G>T	c.(124-126)Gag>Tag	p.E42*	TIMM10_ENST00000525587.1_Nonsense_Mutation_p.E42*|TIMM10_ENST00000525158.1_Nonsense_Mutation_p.E42*	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	42					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(2)	3						TTGGAGAGCTCTGCTTCCTTG	0.552																																						ENST00000257245.4																			0				cervix(1)|large_intestine(2)	3						c.(124-126)Gag>Tag		translocase of inner mitochondrial membrane 10 homolog (yeast)							109.0	93.0	98.0					11																	57296339		2201	4296	6497	SO:0001587	stop_gained	26519				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding	g.chr11:57296339C>A	AF152354	CCDS7959.1	11q12.1-q12.3	2008-07-21	2001-11-28			ENSG00000134809			11814	protein-coding gene	gene with protein product		602251	"""translocase of inner mitochondrial membrane 10 (yeast) homolog"""			10552927	Standard	NM_012456		Approved	TIM10, TIM10A	uc001nkm.1	P62072		ENST00000257245.4:c.124G>T	11.37:g.57296339C>A	ENSP00000257245:p.Glu42*					TIMM10_ENST00000525158.1_Nonsense_Mutation_p.E42*|TIMM10_ENST00000525587.1_Nonsense_Mutation_p.E42*	p.E42*	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN			3	276	-			42					A8K136|Q9WV99|Q9WVA0|Q9Y5J8	Nonsense_Mutation	SNP	ENST00000257245.4	37	c.124G>T	CCDS7959.1	.	.	.	.	.	.	.	.	.	.	C	37	6.183960	0.97357	.	.	ENSG00000134809	ENST00000257245;ENST00000525587;ENST00000525158	.	.	.	5.78	5.78	0.91487	.	0.046356	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-37.6686	19.6068	0.95584	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000257245:E42X	E	-	1	0	TIMM10	57052915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.744000	0.94065	0.563000	0.77884	GAG		0.552	TIMM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392595.1	NM_012456		8	29	1	0	0.307466	1	0.308846	8	29				
DIAPH1	1729	broad.mit.edu	37	5	140957091	140957091	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140957091G>T	ENST00000398557.4	-	12	1371	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	DIAPH1_ENST00000518047.1_Missense_Mutation_p.L402I|DIAPH1_ENST00000253811.6_Missense_Mutation_p.L411I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L357I|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L402I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L402I|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L411I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L402I	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	411	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGGAAAGGAAGTGTGGC	0.418																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(1231-1233)Ctt>Att		diaphanous-related formin 1							143.0	140.0	141.0					5																	140957091		1891	4114	6005	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140957091G>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1231C>A	5.37:g.140957091G>T	ENSP00000381565:p.Leu411Ile					DIAPH1_ENST00000389054.3_Missense_Mutation_p.L411I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L402I|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L402I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L402I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L357I|DIAPH1_ENST00000398557.4_Missense_Mutation_p.L411I|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L402I	p.L411I			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1371	-			411			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.1231C>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946031	0.73672	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.77	3.04	0.35103	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.202787	0.32328	N	0.006246	D	0.91287	0.7253	M	0.70275	2.135	0.53688	D	0.999972	D;D	0.60160	0.987;0.987	D;D	0.79108	0.992;0.992	D	0.88542	0.3110	10	0.37606	T	0.19	.	10.391	0.44168	0.2166:0.0:0.7834:0.0	.	402;411	E9PEZ2;O60610	.;DIAP1_HUMAN	I	411;357;402;402;402;411;411;402	ENSP00000373706:L411I;ENSP00000429282:L357I;ENSP00000381570:L402I;ENSP00000373709:L402I;ENSP00000381572:L402I;ENSP00000381565:L411I;ENSP00000253811:L411I;ENSP00000428268:L402I	ENSP00000253811:L411I	L	-	1	0	DIAPH1	140937275	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.473000	0.60196	0.371000	0.24564	-0.373000	0.07131	CTT		0.418	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		41	71	1	0	9.73076e-26	1	1.29479e-25	41	71				
TWISTNB	221830	broad.mit.edu	37	7	19737998	19737998	+	Missense_Mutation	SNP	C	C	T	rs61734275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:19737998C>T	ENST00000222567.5	-	4	1028	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	320	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.E320K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGGGTAAATTCGGCCTCTTCA	0.368													C|||	10	0.00199681	0.0076	0.0	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.0					ENST00000222567.5																			1	Substitution - Missense(1)	p.E320K(1)	large_intestine(1)	kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(958-960)Gaa>Aaa		TWIST neighbor		C	LYS/GLU	27,4377	30.8+/-60.4	0,27,2175	93.0	102.0	99.0		958	5.5	0.4	7	dbSNP_129	99	2,8598	1.2+/-3.3	0,2,4298	yes	missense	TWISTNB	NM_001002926.1	56	0,29,6473	TT,TC,CC		0.0233,0.6131,0.223	possibly-damaging	320/339	19737998	29,12975	2202	4300	6502	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19737998C>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.958G>A	7.37:g.19737998C>T	ENSP00000222567:p.Glu320Lys						p.E320K	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	1028	-			320			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.958G>A	CCDS34606.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.62	2.588868	0.46110	0.006131	2.33E-4	ENSG00000105849	ENST00000222567	.	.	.	5.47	5.47	0.80525	.	0.743446	0.13807	N	0.361369	T	0.26159	0.0638	L	0.44542	1.39	0.09310	N	1	D	0.58970	0.984	B	0.40636	0.335	T	0.25882	-1.0119	9	0.59425	D	0.04	-8.7148	14.8742	0.70483	0.0:0.8568:0.1432:0.0	.	320	Q3B726	RPA43_HUMAN	K	320	.	ENSP00000222567:E320K	E	-	1	0	TWISTNB	19704523	0.899000	0.30636	0.420000	0.26596	0.465000	0.32709	2.830000	0.48136	2.568000	0.86640	0.484000	0.47621	GAA		0.368	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			98	73	0	0	0	1	0	98	73				
CLCN1	1180	broad.mit.edu	37	7	143028657	143028657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143028657C>T	ENST00000343257.2	+	10	1165	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	360					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCTGTGGGCTCCTGGGAGC	0.473																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1078-1080)Ctc>Ttc		chloride channel, voltage-sensitive 1							112.0	101.0	105.0					7																	143028657		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143028657C>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1078C>T	7.37:g.143028657C>T	ENSP00000339867:p.Leu360Phe						p.L360F	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			10	1165	+	Melanoma(164;0.205)		360					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1078C>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	3.923	-0.017788	0.07681	.	.	ENSG00000188037	ENST00000343257	D	0.95482	-3.72	5.12	3.97	0.46021	Chloride channel, core (2);	0.046171	0.85682	N	0.000000	D	0.89213	0.6651	N	0.20881	0.62	0.42650	D	0.993446	B	0.02656	0.0	B	0.01281	0.0	T	0.81879	-0.0730	10	0.13853	T	0.58	.	10.1759	0.42937	0.0:0.0803:0.0:0.9197	.	360	P35523	CLCN1_HUMAN	F	360	ENSP00000339867:L360F	ENSP00000339867:L360F	L	+	1	0	CLCN1	142738779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.141000	0.50593	0.812000	0.34326	-0.334000	0.08254	CTC		0.473	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		55	34	0	0	0	1	0	55	34				
MPRIP	23164	broad.mit.edu	37	17	17030083	17030083	+	Missense_Mutation	SNP	G	G	A	rs372089723		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17030083G>A	ENST00000341712.4	+	4	335	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MPRIP_ENST00000395804.3_Missense_Mutation_p.R112H|MPRIP_ENST00000444976.1_Missense_Mutation_p.R112H|MPRIP_ENST00000395811.5_Missense_Mutation_p.R112H			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	112	Interaction with F-actin. {ECO:0000250}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.R112H(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGGAGGGCCGCACGGGCCAG	0.597																																						ENST00000395811.5																			1	Substitution - Missense(1)	p.R112H(1)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(334-336)cGc>cAc		myosin phosphatase Rho interacting protein							87.0	82.0	84.0					17																	17030083		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17030083G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.335G>A	17.37:g.17030083G>A	ENSP00000342379:p.Arg112His					MPRIP_ENST00000444976.1_Missense_Mutation_p.R112H|MPRIP_ENST00000395804.3_Missense_Mutation_p.R112H|MPRIP_ENST00000341712.4_Missense_Mutation_p.R112H	p.R112H	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			4	424	+			112			Interaction with F-actin (By similarity).|PH 1.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.335G>A	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968482	0.92855	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.59	5.59	0.84812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.96140	0.8742	L	0.58101	1.795	0.54753	D	0.999985	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.953	D	0.96228	0.9166	9	0.72032	D	0.01	.	19.5944	0.95530	0.0:0.0:1.0:0.0	.	112;112	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	H	112	ENSP00000400189:R112H;ENSP00000379156:R112H;ENSP00000379149:R112H;ENSP00000342379:R112H	ENSP00000342379:R112H	R	+	2	0	MPRIP	16970808	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.313000	0.65798	2.642000	0.89623	0.561000	0.74099	CGC		0.597	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		8	57	0	0	0	1	0	8	57				
ZNF319	57567	broad.mit.edu	37	16	58031995	58031995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58031995C>T	ENST00000299237.2	-	2	797	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	59	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGCTGCAGGCCGGGGTCTGGC	0.697																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(175-177)Ggc>Agc		zinc finger protein 319							33.0	35.0	34.0					16																	58031995		2198	4298	6496	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031995C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.175G>A	16.37:g.58031995C>T	ENSP00000299237:p.Gly59Ser						p.G59S	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	797	-			59			Pro-rich.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.175G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	0.368	-0.935642	0.02340	.	.	ENSG00000166188	ENST00000299237	T	0.03441	3.93	5.2	2.88	0.33553	.	0.245201	0.34200	N	0.004165	T	0.01940	0.0061	N	0.11427	0.14	0.19575	N	0.999965	B	0.14438	0.01	B	0.08055	0.003	T	0.46317	-0.9200	10	0.05436	T	0.98	-25.0146	11.8165	0.52214	0.0:0.8289:0.0:0.1711	.	59	Q9P2F9	ZN319_HUMAN	S	59	ENSP00000299237:G59S	ENSP00000299237:G59S	G	-	1	0	ZNF319	56589496	0.207000	0.23482	0.817000	0.32601	0.001000	0.01503	0.441000	0.21611	1.189000	0.43028	-0.251000	0.11542	GGC		0.697	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			15	23	0	0	0	1	0	15	23				
DCHS2	54798	broad.mit.edu	37	4	155160378	155160378	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155160378T>G	ENST00000357232.4	-	24	6070	c.6071A>C	c.(6070-6072)aAc>aCc	p.N2024T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2024	Cadherin 18. {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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAAGAAATGTTCTCATTGCT	0.383																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6070-6072)aAc>aCc		dachsous cadherin-related 2							64.0	64.0	64.0					4																	155160378		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155160378T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6071A>C	4.37:g.155160378T>G	ENSP00000349768:p.Asn2024Thr						p.N2024T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	24	6070	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2024			Cadherin 18.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6071A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	8.720	0.914082	0.17907	.	.	ENSG00000197410	ENST00000357232	T	0.67698	-0.28	5.92	0.327	0.15913	Cadherin (4);Cadherin-like (1);	0.769865	0.12433	N	0.469382	T	0.62036	0.2395	M	0.86651	2.83	0.09310	N	1	B	0.25563	0.129	B	0.27887	0.084	T	0.50583	-0.8811	10	0.18710	T	0.47	.	1.7664	0.03003	0.1841:0.1441:0.1098:0.5621	.	2024	Q6V1P9	PCD23_HUMAN	T	2024	ENSP00000349768:N2024T	ENSP00000349768:N2024T	N	-	2	0	DCHS2	155379828	0.012000	0.17670	0.327000	0.25402	0.226000	0.24999	0.901000	0.28445	0.469000	0.27268	-0.421000	0.06004	AAC		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		9	42	0	0	0	1	0	9	42				
EPS8	2059	broad.mit.edu	37	12	15774360	15774360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15774360C>T	ENST00000281172.5	-	21	2796	c.2360G>A	c.(2359-2361)aGc>aAc	p.S787N	EPS8_ENST00000542903.1_Missense_Mutation_p.S527N|EPS8_ENST00000540613.1_Missense_Mutation_p.S527N|EPS8_ENST00000543612.1_Missense_Mutation_p.S787N|EPS8_ENST00000543523.1_Missense_Mutation_p.S787N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	787	Effector region. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTGCCACTGCTATCCTGAAA	0.418																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(2359-2361)aGc>aAc		epidermal growth factor receptor pathway substrate 8							46.0	43.0	44.0					12																	15774360		2202	4300	6502	SO:0001583	missense	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15774360C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2360G>A	12.37:g.15774360C>T	ENSP00000281172:p.Ser787Asn					EPS8_ENST00000542903.1_Missense_Mutation_p.S527N|EPS8_ENST00000540613.1_Missense_Mutation_p.S527N|EPS8_ENST00000543612.1_Missense_Mutation_p.S787N|EPS8_ENST00000543523.1_Missense_Mutation_p.S787N	p.S787N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	21	2796	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	787					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.2360G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	4.851	0.158158	0.09236	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.45	-2.0	0.07433	.	0.334432	0.33959	N	0.004385	T	0.18964	0.0455	N	0.19112	0.55	0.24817	N	0.992608	B	0.02656	0.0	B	0.04013	0.001	T	0.08827	-1.0703	10	0.23302	T	0.38	-2.0987	3.5123	0.07713	0.1104:0.4188:0.112:0.3588	.	787	Q12929	EPS8_HUMAN	N	787;787;787;527;527	ENSP00000441867:S787N;ENSP00000281172:S787N;ENSP00000442388:S787N;ENSP00000441888:S527N;ENSP00000437806:S527N	ENSP00000281172:S787N	S	-	2	0	EPS8	15665627	0.952000	0.32445	0.080000	0.20451	0.743000	0.42351	-0.155000	0.10115	-0.646000	0.05452	-0.225000	0.12378	AGC		0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			5	16	0	0	0	1	0	5	16				
SH3KBP1	30011	broad.mit.edu	37	X	19626117	19626117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19626117C>T	ENST00000397821.3	-	9	1234	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R54Q|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R77Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R278Q|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.R359Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	315	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAACACGCCTCGTCTGCCGTT	0.527																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(943-945)cGa>cAa		SH3-domain kinase binding protein 1							95.0	75.0	82.0					X																	19626117		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19626117C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.944G>A	X.37:g.19626117C>T	ENSP00000380921:p.Arg315Gln					SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R54Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R77Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R278Q|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.R359Q	p.R315Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			9	1234	-			315			SH3 3.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.944G>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110240	0.37242	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726;ENST00000379697	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.7	5.7	0.88788	Src homology-3 domain (4);Variant SH3 (1);	0.288185	0.34531	N	0.003898	T	0.27765	0.0683	N	0.20881	0.62	0.41558	D	0.988612	B;B;B	0.31077	0.023;0.307;0.248	B;B;B	0.24701	0.017;0.031;0.055	T	0.14980	-1.0453	10	0.14252	T	0.57	-5.4465	7.9704	0.30124	0.0:0.8226:0.0:0.1774	.	77;315;278	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	Q	300;315;77;278;54;295;359	ENSP00000380921:R315Q;ENSP00000369039:R77Q;ENSP00000369020:R278Q;ENSP00000442499:R54Q;ENSP00000369049:R295Q;ENSP00000369019:R359Q	ENSP00000369019:R359Q	R	-	2	0	SH3KBP1	19536038	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.335000	0.43929	2.398000	0.81561	0.600000	0.82982	CGA		0.527	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		24	24	0	0	0	1	0	24	24				
CCDC82	79780	broad.mit.edu	37	11	96117716	96117716	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117716C>T	ENST00000278520.5	-	3	624	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CCDC82_ENST00000423339.2_Missense_Mutation_p.E66K|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000542662.1_Missense_Mutation_p.E66K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	66										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTATCAAGCTCTTCATCATTT	0.338																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(196-198)Gag>Aag		coiled-coil domain containing 82							158.0	144.0	149.0					11																	96117716		2200	4298	6498	SO:0001583	missense	79780						protein binding	g.chr11:96117716C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.196G>A	11.37:g.96117716C>T	ENSP00000278520:p.Glu66Lys					CCDC82_ENST00000542662.1_Missense_Mutation_p.E66K|CCDC82_ENST00000423339.2_Missense_Mutation_p.E66K	p.E66K			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	624	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	66					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.196G>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	5.134	0.210247	0.09757	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.33865	1.76;1.76;1.76;1.39	5.77	1.66	0.24008	.	0.727171	0.12603	N	0.454556	T	0.19927	0.0479	N	0.20685	0.6	0.09310	N	1	B;B	0.27351	0.176;0.11	B;B	0.24541	0.054;0.021	T	0.22661	-1.0210	10	0.20046	T	0.44	0.0384	7.4834	0.27419	0.0:0.6552:0.1244:0.2204	.	66;66	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	K	66	ENSP00000278520:E66K;ENSP00000444010:E66K;ENSP00000397156:E66K;ENSP00000442723:E66K	ENSP00000278520:E66K	E	-	1	0	CCDC82	95757364	0.008000	0.16893	0.007000	0.13788	0.227000	0.25037	0.209000	0.17435	0.416000	0.25844	0.655000	0.94253	GAG		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		50	50	0	0	0	1	0	50	50				
GPR171	29909	broad.mit.edu	37	3	150916564	150916564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150916564G>A	ENST00000309180.5	-	3	840	c.610C>T	c.(610-612)Cga>Tga	p.R204*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	204					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGAGCTGTCGAATTACAAGG	0.333																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(610-612)Cga>Tga		G protein-coupled receptor 171							52.0	52.0	52.0					3																	150916564		2203	4300	6503	SO:0001587	stop_gained	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916564G>A	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.610C>T	3.37:g.150916564G>A	ENSP00000308479:p.Arg204*					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.R204*	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	840	-			204					D3DNJ4|Q8IV06	Nonsense_Mutation	SNP	ENST00000309180.5	37	c.610C>T	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394235	0.96009	.	.	ENSG00000174946	ENST00000309180	.	.	.	5.76	1.75	0.24633	.	0.173491	0.37219	N	0.002190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4792	17.3736	0.87385	0.0:0.0:0.2457:0.7542	.	.	.	.	X	204	.	ENSP00000308479:R204X	R	-	1	2	GPR171	152399254	0.000000	0.05858	0.503000	0.27626	0.974000	0.67602	0.280000	0.18790	0.023000	0.15187	-0.274000	0.10170	CGA		0.333	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		17	34	0	0	0	1	0	17	34				
AGAP11	119385	broad.mit.edu	37	10	88768121	88768121	+	RNA	SNP	G	G	A	rs202173191		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88768121G>A	ENST00000444431.1	+	0	2721				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GTTTTCCACCGTGCACATTAC	0.428																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							111.0	104.0	106.0					10																	88768121		1980	4205	6185			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768121G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768121G>A						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	2721	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.428	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		4	63	0	0	0	1	0	4	63				
FUT5	2527	broad.mit.edu	37	19	5867076	5867076	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5867076G>A	ENST00000588525.1	-	2	748	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	FUT5_ENST00000252675.5_Missense_Mutation_p.R221C	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	221					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGTAGTAGCGCACCCTGGCC	0.667																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(661-663)Cgc>Tgc		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)																																				SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867076G>A		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.661C>T	19.37:g.5867076G>A	ENSP00000466880:p.Arg221Cys					FUT5_ENST00000588525.1_Missense_Mutation_p.R221C	p.R221C			Q11128	FUT5_HUMAN			5	1223	-			221					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.661C>T	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178756	0.57692	.	.	ENSG00000130383	ENST00000252675	T	0.25749	1.78	2.13	-0.852	0.10713	.	1.303210	0.05747	U	0.602420	T	0.43656	0.1257	M	0.85859	2.78	0.09310	N	1	D	0.57571	0.98	P	0.55303	0.773	T	0.35624	-0.9781	10	0.87932	D	0	.	3.9171	0.09228	0.0:0.22:0.3644:0.4157	.	221	Q11128	FUT5_HUMAN	C	221	ENSP00000252675:R221C	ENSP00000252675:R221C	R	-	1	0	FUT5	5818076	0.000000	0.05858	0.056000	0.19401	0.451000	0.32288	-0.942000	0.03921	0.195000	0.20347	0.400000	0.26472	CGC		0.667	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		15	25	0	0	0	1	0	15	25				
PON3	5446	broad.mit.edu	37	7	94991693	94991693	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94991693T>G	ENST00000265627.5	-	8	897	c.887A>C	c.(886-888)gAg>gCg	p.E296A	PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_3'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	296					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TGGAGGGTCCTCAGGGTTATA	0.468																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(886-888)gAg>gCg		paraoxonase 3							85.0	82.0	83.0					7																	94991693		2203	4300	6503	SO:0001583	missense	5446							g.chr7:94991693T>G	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.887A>C	7.37:g.94991693T>G	ENSP00000265627:p.Glu296Ala					PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron	p.E296A	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		8	897	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.887A>C	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	8.472	0.857800	0.17178	.	.	ENSG00000105852	ENST00000265627	T	0.40756	1.02	4.98	2.45	0.29901	Six-bladed beta-propeller, TolB-like (1);	0.445078	0.27526	N	0.018972	T	0.36220	0.0959	M	0.64567	1.98	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20571	-1.0271	10	0.36615	T	0.2	-6.4688	8.2035	0.31438	0.0:0.0744:0.1334:0.7922	.	296	Q15166	PON3_HUMAN	A	296	ENSP00000265627:E296A	ENSP00000265627:E296A	E	-	2	0	PON3	94829629	0.803000	0.28956	0.954000	0.39281	0.666000	0.39218	3.711000	0.54868	1.024000	0.39682	0.528000	0.53228	GAG		0.468	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		5	52	0	0	0	1	0	5	52				
TMEM98	26022	broad.mit.edu	37	17	31267806	31267806	+	Missense_Mutation	SNP	C	C	T	rs541167806		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31267806C>T	ENST00000579849.1	+	8	907	c.476C>T	c.(475-477)aCg>aTg	p.T159M	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.T159M	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	159						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TTCCCTAGGACGACTGCCCTG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20471	0.0		0.0	False		,,,				2504	0.001					ENST00000579849.1																			0				kidney(2)|large_intestine(1)	3						c.(475-477)aCg>aTg		transmembrane protein 98							95.0	100.0	98.0					17																	31267806		2203	4300	6503	SO:0001583	missense	26022					endoplasmic reticulum|integral to membrane		g.chr17:31267806C>T	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.476C>T	17.37:g.31267806C>T	ENSP00000463245:p.Thr159Met					TMEM98_ENST00000394642.3_Missense_Mutation_p.T159M|TMEM98_ENST00000578289.1_Intron	p.T159M	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		8	907	+		Ovarian(249;0.182)|Breast(31;0.244)	159					E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	37	c.476C>T	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149882	0.57151	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000439138	T;T	0.42131	0.98;0.98	5.76	5.76	0.90799	.	0.049134	0.85682	D	0.000000	T	0.32133	0.0819	N	0.08118	0	0.80722	D	1	P	0.50710	0.938	B	0.42771	0.397	T	0.64339	-0.6431	10	0.62326	D	0.03	-28.6992	17.8133	0.88623	0.0:1.0:0.0:0.0	.	159	Q9Y2Y6	TMM98_HUMAN	M	159	ENSP00000378138:T159M;ENSP00000406394:T159M	ENSP00000261713:T159M	T	+	2	0	TMEM98	28291919	1.000000	0.71417	0.058000	0.19502	0.365000	0.29674	4.492000	0.60334	-4.355000	0.00054	-1.888000	0.00539	ACG		0.498	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		35	85	0	0	0	1	0	35	85				
CEP250	11190	broad.mit.edu	37	20	34091114	34091114	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34091114C>T	ENST00000397527.1	+	30	5637	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	CEP250_ENST00000342580.4_Silent_p.I1583I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1639	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAACAGATCGAGGAGCTGC	0.562																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4915-4917)atC>atT		centrosomal protein 250kDa							70.0	74.0	72.0					20																	34091114		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091114C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4917C>T	20.37:g.34091114C>T						CEP250_ENST00000342580.4_Silent_p.I1583I	p.I1639I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5637	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1639			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.4917C>T	CCDS13255.1																																																																																				0.562	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		32	31	0	0	0	1	0	32	31				
ZNF266	10781	broad.mit.edu	37	19	9523993	9523993	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9523993T>C	ENST00000592904.1	-	5	3684	c.1608A>G	c.(1606-1608)cgA>cgG	p.R536R	ZNF266_ENST00000592292.1_Silent_p.R536R|ZNF266_ENST00000361451.2_Silent_p.R536R|ZNF266_ENST00000361151.1_Silent_p.R536R|ZNF266_ENST00000588221.1_Silent_p.R536R|ZNF266_ENST00000588933.1_Silent_p.R536R|ZNF266_ENST00000590306.1_Silent_p.R536R			Q14584	ZN266_HUMAN	zinc finger protein 266	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCATGATTTCGAAAGGAAC	0.443																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(1606-1608)cgA>cgG		zinc finger protein 266							87.0	81.0	83.0					19																	9523993		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9523993T>C	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1608A>G	19.37:g.9523993T>C						ZNF266_ENST00000588933.1_Silent_p.R536R|ZNF266_ENST00000361151.1_Silent_p.R536R|ZNF266_ENST00000592292.1_Silent_p.R536R|ZNF266_ENST00000588221.1_Silent_p.R536R|ZNF266_ENST00000361451.2_Silent_p.R536R|ZNF266_ENST00000590306.1_Silent_p.R536R	p.R536R			Q14584	ZN266_HUMAN			5	3684	-			536					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Silent	SNP	ENST00000592904.1	37	c.1608A>G	CCDS12213.1																																																																																				0.443	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			29	49	0	0	0	1	0	29	49				
DALRD3	55152	broad.mit.edu	37	3	49054273	49054273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49054273A>G	ENST00000341949.4	-	6	941	c.935T>C	c.(934-936)cTc>cCc	p.L312P	DALRD3_ENST00000441576.2_Missense_Mutation_p.L312P|DALRD3_ENST00000440857.1_Missense_Mutation_p.L145P|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.L145P|DALRD3_ENST00000395462.4_Missense_Mutation_p.L145P	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	312					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACAGATGAGGTGCTTCTG	0.567																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(433-435)cTc>cCc		DALR anticodon binding domain containing 3							82.0	79.0	80.0					3																	49054273		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49054273A>G	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.935T>C	3.37:g.49054273A>G	ENSP00000344989:p.Leu312Pro					DALRD3_ENST00000313778.5_Missense_Mutation_p.L145P|DALRD3_ENST00000441576.2_Missense_Mutation_p.L312P|DALRD3_ENST00000395462.4_Missense_Mutation_p.L145P|DALRD3_ENST00000341949.4_Missense_Mutation_p.L312P	p.L145P			Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	1136	-			312					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.434T>C	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	a	17.81	3.480024	0.63849	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.62639	0.21;0.28;0.3;0.24;0.3;0.01	4.86	3.7	0.42460	.	0.155471	0.43919	N	0.000513	T	0.74152	0.3679	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.991	T	0.74737	-0.3564	10	0.87932	D	0	-7.6655	9.1159	0.36758	0.9155:0.0:0.0845:0.0	.	312;145;312;312	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	P	312;312;145;145;145;277	ENSP00000410623:L312P;ENSP00000344989:L312P;ENSP00000378846:L145P;ENSP00000403770:L145P;ENSP00000323265:L145P;ENSP00000397385:L277P	ENSP00000323265:L145P	L	-	2	0	DALRD3	49029277	0.993000	0.37304	1.000000	0.80357	0.885000	0.51271	2.915000	0.48805	0.881000	0.35993	-0.378000	0.06908	CTC		0.567	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		5	51	0	0	0	1	0	5	51				
CDKL5	6792	broad.mit.edu	37	X	18668631	18668631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18668631C>T	ENST00000379989.3	+	21	3184	c.2899C>T	c.(2899-2901)Ctc>Ttc	p.L967F	RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.L967F	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	967					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTATCCAGTACTCCAGGTCCG	0.567																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2899-2901)Ctc>Ttc		cyclin-dependent kinase-like 5							138.0	99.0	112.0					X																	18668631		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18668631C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2899C>T	X.37:g.18668631C>T	ENSP00000369325:p.Leu967Phe					CDKL5_ENST00000379996.3_Missense_Mutation_p.L967F|RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR	p.L967F	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			21	3184	+	Hepatocellular(33;0.183)		967					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2899C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120159	0.37436	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.72394	-0.65;-0.65	3.29	1.51	0.23008	.	.	.	.	.	T	0.46698	0.1406	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38824	-0.9643	9	0.87932	D	0	.	4.6877	0.12765	0.0:0.6935:0.0:0.3065	.	967	O76039	CDKL5_HUMAN	F	967	ENSP00000369332:L967F;ENSP00000369325:L967F	ENSP00000369325:L967F	L	+	1	0	CDKL5	18578552	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.070000	0.11523	0.286000	0.22352	0.600000	0.82982	CTC		0.567	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		28	33	0	0	0	1	0	28	33				
SLC22A5	6584	broad.mit.edu	37	5	131722800	131722800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131722800C>T	ENST00000245407.3	+	5	1129	c.908C>T	c.(907-909)gCc>gTc	p.A303V	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A327V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	303					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GCTGCCAAAGCCAATGGGATT	0.552											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(907-909)gCc>gTc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						306.0	261.0	276.0					5																	131722800		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722800C>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.908C>T	5.37:g.131722800C>T	ENSP00000245407:p.Ala303Val		OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A327V	p.A303V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1129	+		all_cancers(142;0.0751)|Breast(839;0.198)	303					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.908C>T	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	C	3.791	-0.043725	0.07452	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.73469	-0.75;-0.75;0.29	5.4	3.03	0.35002	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.702810	0.14728	N	0.301957	T	0.38268	0.1034	N	0.01009	-1.055	0.20563	N	0.999881	B;B	0.10296	0.003;0.001	B;B	0.16289	0.015;0.009	T	0.32481	-0.9905	10	0.08837	T	0.75	.	5.0503	0.14505	0.1253:0.2221:0.0:0.6526	.	327;303	A2Q0V1;O76082	.;S22A5_HUMAN	V	303;327;226	ENSP00000245407:A303V;ENSP00000402760:A327V;ENSP00000388838:A226V	ENSP00000245407:A303V	A	+	2	0	SLC22A5	131750699	0.031000	0.19500	0.955000	0.39395	0.038000	0.13279	0.149000	0.16243	0.365000	0.24400	-0.471000	0.05019	GCC		0.552	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		7	239	0	0	0	1	0	7	239				
CEP290	80184	broad.mit.edu	37	12	88514815	88514815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514815C>A	ENST00000552810.1	-	14	1661	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.E440*|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	440					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCAACTAATTCTTTATCCTTT	0.358																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1318-1320)Gaa>Taa		centrosomal protein 290kDa							120.0	113.0	115.0					12																	88514815		1845	4084	5929	SO:0001587	stop_gained	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514815C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1318G>T	12.37:g.88514815C>A	ENSP00000448012:p.Glu440*					CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Nonsense_Mutation_p.E440*	p.E440*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			14	1661	-			440					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	c.1318G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	41	8.904094	0.98996	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	.	.	.	5.61	4.73	0.59995	.	0.061183	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	14.4923	0.67660	0.0:0.9294:0.0:0.0706	.	.	.	.	X	440;440;440;342	.	ENSP00000308021:E440X	E	-	1	0	CEP290	87038946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.936000	0.63506	1.378000	0.46305	0.591000	0.81541	GAA		0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		13	25	1	0	9.31168e-06	1	1.06029e-05	13	25				
MYO10	4651	broad.mit.edu	37	5	16676221	16676221	+	Missense_Mutation	SNP	G	G	A	rs373603959		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16676221G>A	ENST00000513610.1	-	34	5039	c.4585C>T	c.(4585-4587)Cgg>Tgg	p.R1529W	MYO10_ENST00000515803.1_Missense_Mutation_p.R868W|MYO10_ENST00000427430.2_Missense_Mutation_p.R886W|MYO10_ENST00000274203.9_Missense_Mutation_p.R886W|MYO10_ENST00000505695.1_Missense_Mutation_p.R868W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1529					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCGGGTTCCGCTTGTAAATC	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(4585-4587)Cgg>Tgg		myosin X		G	TRP/ARG	0,3900		0,0,1950	155.0	167.0	163.0		4585	4.3	1.0	5		163	1,8293		0,1,4146	no	missense	MYO10	NM_012334.2	101	0,1,6096	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1529/2059	16676221	1,12193	1950	4147	6097	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16676221G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4585C>T	5.37:g.16676221G>A	ENSP00000421280:p.Arg1529Trp					MYO10_ENST00000505695.1_Missense_Mutation_p.R868W|MYO10_ENST00000515803.1_Missense_Mutation_p.R868W|MYO10_ENST00000274203.9_Missense_Mutation_p.R886W|MYO10_ENST00000427430.2_Missense_Mutation_p.R886W	p.R1529W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			34	5039	-			1529					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.4585C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390889	0.82902	0.0	1.21E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.31	4.32	0.51571	.	.	.	.	.	T	0.65995	0.2745	M	0.75447	2.3	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.965;0.998;0.999	T	0.68511	-0.5389	9	0.87932	D	0	.	11.1001	0.48168	0.0:0.0:0.6054:0.3946	.	408;1169;1529	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	W	1529;868;886;868;886	ENSP00000421280:R1529W;ENSP00000425051:R868W;ENSP00000274203:R886W;ENSP00000421170:R868W;ENSP00000391106:R886W	ENSP00000274203:R886W	R	-	1	2	MYO10	16729221	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.618000	0.61211	2.659000	0.90383	0.563000	0.77884	CGG		0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		31	39	0	0	0	1	0	31	39				
SAMD9L	219285	broad.mit.edu	37	7	92763849	92763849	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92763849T>C	ENST00000318238.4	-	5	2652	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N479S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N479S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	479					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCCACATGTTAGTTGTCTT	0.403																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1435-1437)aAc>aGc		sterile alpha motif domain containing 9-like							99.0	96.0	97.0					7																	92763849		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92763849T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1436A>G	7.37:g.92763849T>C	ENSP00000326247:p.Asn479Ser					SAMD9L_ENST00000437805.1_Missense_Mutation_p.N479S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N479S	p.N479S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2652	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		479					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1436A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.706598	0.00096	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13196	2.61;2.61;2.61	4.29	-0.414	0.12359	.	1.022470	0.07806	N	0.957357	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43015	-0.9417	10	0.07990	T	0.79	0.8033	3.8061	0.08777	0.0821:0.1298:0.3538:0.4343	.	479	Q8IVG5	SAM9L_HUMAN	S	479	ENSP00000326247:N479S;ENSP00000405760:N479S;ENSP00000408796:N479S	ENSP00000326247:N479S	N	-	2	0	SAMD9L	92601785	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.079000	0.11357	0.103000	0.17682	0.377000	0.23210	AAC		0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		41	137	0	0	0	1	0	41	137				
IKBKE	9641	broad.mit.edu	37	1	206647680	206647680	+	Missense_Mutation	SNP	G	G	A	rs549538401		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206647680G>A	ENST00000367120.3	+	4	467	c.94G>A	c.(94-96)Gga>Aga	p.G32R	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	32	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAGAAATCCGGAGAGCTGGT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18971	0.0		0.0	False		,,,				2504	0.001					ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(94-96)Gga>Aga		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							76.0	66.0	70.0					1																	206647680		2203	4300	6503	SO:0001583	missense	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206647680G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.94G>A	1.37:g.206647680G>A	ENSP00000356087:p.Gly32Arg					IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000462698.1_Intron	p.G32R	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			4	467	+	Breast(84;0.137)		32			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.94G>A	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373498	0.82573	.	.	ENSG00000143466	ENST00000367120	T	0.55052	0.54	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79198	-0.1902	10	0.87932	D	0	-1.5909	18.8572	0.92257	0.0:0.0:1.0:0.0	.	32	Q14164	IKKE_HUMAN	R	32	ENSP00000356087:G32R	ENSP00000356087:G32R	G	+	1	0	IKBKE	204714303	1.000000	0.71417	0.996000	0.52242	0.437000	0.31866	9.837000	0.99465	2.456000	0.83038	0.561000	0.74099	GGA		0.602	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			28	25	0	0	0	1	0	28	25				
NUP205	23165	broad.mit.edu	37	7	135307563	135307563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135307563G>A	ENST00000285968.6	+	31	4395	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1457					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCCCCTGAAGATGTATTTAG	0.403																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4369-4371)Gat>Aat		nucleoporin 205kDa							86.0	86.0	86.0					7																	135307563		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135307563G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4369G>A	7.37:g.135307563G>A	ENSP00000285968:p.Asp1457Asn						p.D1457N	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			31	4395	+			1457					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4369G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865805	0.91511	.	.	ENSG00000155561	ENST00000285968	T	0.31769	1.48	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.48986	1.54	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	T	0.31081	-0.9956	10	0.28530	T	0.3	-1.0735	18.2857	0.90113	0.0:0.0:1.0:0.0	.	1457	Q92621	NU205_HUMAN	N	1457	ENSP00000285968:D1457N	ENSP00000285968:D1457N	D	+	1	0	NUP205	134958103	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.721000	0.98766	2.386000	0.81285	0.591000	0.81541	GAT		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			24	73	0	0	0	1	0	24	73				
IGHG2	3501	broad.mit.edu	37	14	106110927	106110927	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106110927G>A	ENST00000390545.2	-	0	200							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGTCACCACGCTGCTGAGGG	0.607																																						ENST00000390545.2																			0																				103.0	99.0	100.0					14																	106110927		2128	4256	6384			0							g.chr14:106110927G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110927G>A														0	200	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.607	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		15	24	0	0	0	1	0	15	24				
PRKCDBP	112464	broad.mit.edu	37	11	6340468	6340468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6340468C>T	ENST00000303927.3	-	2	881	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PRKCDBP_ENST00000530979.1_Silent_p.P269P	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	237					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGTCCTGCGGAGGCTCTG	0.692																																						ENST00000303927.3																			0				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(709-711)ccG>ccA		protein kinase C, delta binding protein							76.0	87.0	83.0					11																	6340468		2201	4296	6497	SO:0001819	synonymous_variant	112464							g.chr11:6340468C>T	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.711G>A	11.37:g.6340468C>T						PRKCDBP_ENST00000530979.1_Silent_p.P269P	p.P237P	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	881	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	237						Silent	SNP	ENST00000303927.3	37	c.711G>A	CCDS7762.1																																																																																				0.692	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		83	97	0	0	0	1	0	83	97				
ZNF618	114991	broad.mit.edu	37	9	116811240	116811240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811240G>A	ENST00000374126.5	+	15	1757	c.1658G>A	c.(1657-1659)tGc>tAc	p.C553Y	ZNF618_ENST00000288466.7_Missense_Mutation_p.C460Y|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGTGTCACCTGCCACTCCCAG	0.592																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1378-1380)tGc>tAc		zinc finger protein 618							30.0	32.0	31.0					9																	116811240		2196	4284	6480	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811240G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1658G>A	9.37:g.116811240G>A	ENSP00000363241:p.Cys553Tyr					ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.C553Y	p.C460Y	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1478	+			553					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1379G>A		.	.	.	.	.	.	.	.	.	.	G	14.55	2.569322	0.45798	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.02369	4.32	5.23	5.23	0.72850	Ribonuclease H-like (1);	0.094016	0.85682	D	0.000000	T	0.12987	0.0315	.	.	.	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.85130	0.982;0.996;0.997	T	0.09707	-1.0662	9	0.26408	T	0.33	-20.1974	17.7931	0.88561	0.0:0.0:1.0:0.0	.	520;553;460	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	Y	553;460	ENSP00000288466:C460Y	ENSP00000288466:C460Y	C	+	2	0	ZNF618	115851061	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	9.188000	0.94921	2.440000	0.82611	0.462000	0.41574	TGC		0.592	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		4	13	0	0	0	1	0	4	13				
FAT2	2196	broad.mit.edu	37	5	150946498	150946498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946498T>C	ENST00000261800.5	-	1	2007	c.1995A>G	c.(1993-1995)gaA>gaG	p.E665E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	665	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACAGGAACTTCAAAATGAG	0.423																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1993-1995)gaA>gaG		FAT atypical cadherin 2							103.0	98.0	100.0					5																	150946498		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946498T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1995A>G	5.37:g.150946498T>C							p.E665E	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2007	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	665			Cadherin 5.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1995A>G	CCDS4317.1																																																																																				0.423	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		30	55	0	0	0	1	0	30	55				
SLC2A4RG	56731	broad.mit.edu	37	20	62374307	62374307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374307C>T	ENST00000266077.2	+	8	1180	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCACAGCCTGCCGCTGGAAGA	0.657																																						ENST00000266077.2																			0				NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7						c.(1126-1128)tgC>tgT		SLC2A4 regulator							26.0	36.0	32.0					20																	62374307		2200	4300	6500	SO:0001819	synonymous_variant	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62374307C>T	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.1128C>T	20.37:g.62374307C>T						SLC2A4RG_ENST00000493772.1_3'UTR	p.C376C	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN			8	1180	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		376					Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Silent	SNP	ENST00000266077.2	37	c.1128C>T	CCDS13537.1																																																																																				0.657	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		8	4	0	0	0	1	0	8	4				
MYT1	4661	broad.mit.edu	37	20	62854528	62854528	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854528T>C	ENST00000328439.1	+	15	2823		c.e15+2		MYT1_ENST00000360149.4_Splice_Site|MYT1_ENST00000536311.1_Splice_Site	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACCGCAGGTTTGTCTCCTG	0.612																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.e15+2		myelin transcription factor 1							179.0	176.0	177.0					20																	62854528		2203	4300	6503	SO:0001630	splice_region_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854528T>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2459+2T>C	20.37:g.62854528T>C						MYT1_ENST00000360149.4_Splice_Site|MYT1_ENST00000328439.1_Splice_Site				Q01538	MYT1_HUMAN			15	2904	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)							B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Splice_Site	SNP	ENST00000328439.1	37		CCDS13558.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184277	0.78677	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8584	0.79005	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYT1	62324972	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	7.898000	0.87363	2.145000	0.66743	0.533000	0.62120	.		0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	Intron	9	174	0	0	0	1	0	9	174				
TEX15	56154	broad.mit.edu	37	8	30701743	30701743	+	Silent	SNP	G	G	A	rs201220558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30701743G>A	ENST00000256246.2	-	1	4865	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1597					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCACTCACGTATGACGCAG	0.403																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4789-4791)taC>taT		testis expressed 15							109.0	106.0	107.0					8																	30701743		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30701743G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4791C>T	8.37:g.30701743G>A							p.Y1597Y	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4865	-			1597						Silent	SNP	ENST00000256246.2	37	c.4791C>T	CCDS6080.1																																																																																				0.403	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			55	66	0	0	0	1	0	55	66				
EIF4A1	1973	broad.mit.edu	37	17	7481533	7481533	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7481533T>C	ENST00000293831.8	+	10	1063	c.1047T>C	c.(1045-1047)ctT>ctC	p.L349L	EIF4A1_ENST00000577269.1_Intron|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000582746.1_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	349	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACTATGACCTTCCCACCAACA	0.498																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1045-1047)ctT>ctC		eukaryotic translation initiation factor 4A1							104.0	99.0	101.0					17																	7481533		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481533T>C	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1047T>C	17.37:g.7481533T>C						EIF4A1_ENST00000577269.1_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron	p.L349L	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			10	1063	+			349			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.1047T>C	CCDS11113.1																																																																																				0.498	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		4	50	0	0	0	1	0	4	50				
ALDH3A1	218	broad.mit.edu	37	17	19645423	19645423	+	Missense_Mutation	SNP	T	T	C	rs376055188		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645423T>C	ENST00000457500.2	-	4	912	c.583A>G	c.(583-585)Atc>Gtc	p.I195V	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.I195V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.I195V|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.I195V|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.I122V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	195					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GTCATGATGATCTTCCCCACC	0.597																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(583-585)Atc>Gtc		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						168.0	115.0	133.0					17																	19645423		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19645423T>C	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.583A>G	17.37:g.19645423T>C	ENSP00000411821:p.Ile195Val					ALDH3A1_ENST00000395555.3_Missense_Mutation_p.I195V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.I195V|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.I195V|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.I122V	p.I195V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	4	912	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		195					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.583A>G	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771886	0.31320	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	4.49	-0.594	0.11664	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.431075	0.24786	N	0.035602	T	0.69433	0.3110	M	0.62266	1.93	0.58432	D	0.999998	B;B;B	0.20052	0.001;0.041;0.001	B;B;B	0.31946	0.009;0.138;0.009	T	0.59679	-0.7409	10	0.54805	T	0.06	.	8.4941	0.33117	0.0:0.3502:0.0:0.6498	.	195;312;195	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	V	195;195;253;195;195;122;195;195	ENSP00000225740:I195V;ENSP00000378923:I195V;ENSP00000388469:I195V;ENSP00000411821:I195V;ENSP00000389766:I195V	ENSP00000225740:I195V	I	-	1	0	ALDH3A1	19586015	1.000000	0.71417	0.013000	0.15412	0.849000	0.48306	1.079000	0.30766	-0.441000	0.07201	0.379000	0.24179	ATC		0.597	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		14	24	0	0	0	1	0	14	24				
ZFP30	22835	broad.mit.edu	37	19	38127090	38127090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38127090C>T	ENST00000351218.2	-	6	909	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.E118K|ZFP30_ENST00000392144.1_Missense_Mutation_p.E118K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGACTTTCTTGTTCTTCA	0.358																																						ENST00000351218.2																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(352-354)Gaa>Aaa		ZFP30 zinc finger protein							71.0	71.0	71.0					19																	38127090		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38127090C>T	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.352G>A	19.37:g.38127090C>T	ENSP00000343581:p.Glu118Lys					ZFP30_ENST00000514101.2_Missense_Mutation_p.E118K|ZFP30_ENST00000392144.1_Missense_Mutation_p.E118K|ZFP30_ENST00000589018.1_Intron	p.E118K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	909	-			118					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.352G>A	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	0.847	-0.739832	0.03088	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05199	3.48;3.48;3.48	3.82	1.66	0.24008	.	0.474931	0.15555	N	0.256201	T	0.02342	0.0072	N	0.04880	-0.145	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.45264	-0.9273	10	0.17832	T	0.49	.	1.2965	0.02070	0.1728:0.4536:0.1687:0.2049	.	118;118	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	K	118;118;118;117	ENSP00000343581:E118K;ENSP00000422930:E118K;ENSP00000375988:E118K	ENSP00000343581:E118K	E	-	1	0	ZFP30	42818930	0.863000	0.29885	0.144000	0.22314	0.553000	0.35397	1.474000	0.35398	0.398000	0.25338	0.561000	0.74099	GAA		0.358	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		34	39	0	0	0	1	0	34	39				
NFKBIZ	64332	broad.mit.edu	37	3	101572669	101572669	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101572669C>T	ENST00000326172.5	+	5	1414	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	NFKBIZ_ENST00000326151.5_Silent_p.S311S|NFKBIZ_ENST00000394054.2_Silent_p.S333S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	433	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAAATATTTCCCAAGACCAGT	0.408																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1297-1299)tcC>tcT		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							46.0	46.0	46.0					3																	101572669		2161	4200	6361	SO:0001819	synonymous_variant	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572669C>T	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1299C>T	3.37:g.101572669C>T						NFKBIZ_ENST00000326151.5_Silent_p.S311S|NFKBIZ_ENST00000394054.2_Silent_p.S333S	p.S433S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	1414	+			433			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Silent	SNP	ENST00000326172.5	37	c.1299C>T	CCDS2946.1																																																																																				0.408	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		19	37	0	0	0	1	0	19	37				
PIK3C2A	5286	broad.mit.edu	37	11	17158125	17158125	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17158125G>T	ENST00000265970.7	-	8	1751	c.1752C>A	c.(1750-1752)atC>atA	p.I584I	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.I204I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	584					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AAGCACTACAGATTTTTCTTA	0.333																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1750-1752)atC>atA		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						111.0	107.0	109.0					11																	17158125		2199	4293	6492	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17158125G>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1752C>A	11.37:g.17158125G>T						PIK3C2A_ENST00000540361.1_Silent_p.I204I|PIK3C2A_ENST00000531428.1_Intron	p.I584I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			8	1751	-			584					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.1752C>A	CCDS7824.1																																																																																				0.333	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		52	65	1	0	1.72845e-40	1	2.33163e-40	52	65				
KIAA1841	84542	broad.mit.edu	37	2	61310368	61310368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61310368C>T	ENST00000402291.1	+	8	1050	c.809C>T	c.(808-810)gCa>gTa	p.A270V	KIAA1841_ENST00000295031.5_Missense_Mutation_p.A270V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.A270V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.A270V|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	270										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGTATTAATGCAAATCTTCTC	0.299																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(808-810)gCa>gTa		KIAA1841							110.0	95.0	100.0					2																	61310368		2203	4298	6501	SO:0001583	missense	84542							g.chr2:61310368C>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.809C>T	2.37:g.61310368C>T	ENSP00000385579:p.Ala270Val					KIAA1841_ENST00000295031.5_Missense_Mutation_p.A270V|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.A270V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.A270V	p.A270V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		8	1050	+			270					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.809C>T	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108774	0.37242	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.33	4.45	0.53987	.	0.212904	0.49916	N	0.000132	T	0.57021	0.2025	L	0.54323	1.7	0.42093	D	0.991307	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.11329	0.006;0.006;0.006	T	0.54173	-0.8333	9	0.32370	T	0.25	-3.8823	13.8084	0.63248	0.0:0.9246:0.0:0.0754	.	270;270;270	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	270	.	ENSP00000295031:A270V	A	+	2	0	KIAA1841	61163872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.052000	0.41316	1.348000	0.45733	0.655000	0.94253	GCA		0.299	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		27	35	0	0	0	1	0	27	35				
TBC1D17	79735	broad.mit.edu	37	19	50387952	50387952	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50387952C>T	ENST00000221543.5	+	13	1680	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R428W	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	461	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GACCATGAAGCGGCAACTCGG	0.627																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1381-1383)Cgg>Tgg		TBC1 domain family, member 17							67.0	65.0	66.0					19																	50387952		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387952C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1381C>T	19.37:g.50387952C>T	ENSP00000221543:p.Arg461Trp					TBC1D17_ENST00000535102.2_Missense_Mutation_p.R428W	p.R461W	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	13	1680	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	461			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1381C>T	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656008	0.67586	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.13089	2.62;2.62	4.23	4.23	0.50019	Rab-GAP/TBC domain (5);	0.261461	0.33572	N	0.004778	T	0.31544	0.0800	M	0.72894	2.215	0.38699	D	0.952931	D;D	0.76494	0.999;0.994	D;D	0.66979	0.913;0.948	T	0.09164	-1.0687	10	0.66056	D	0.02	-34.5062	9.6859	0.40098	0.2074:0.7926:0.0:0.0	.	428;461	F5H1W7;Q9HA65	.;TBC17_HUMAN	W	461;428	ENSP00000221543:R461W;ENSP00000446323:R428W	ENSP00000221543:R461W	R	+	1	2	TBC1D17	55079764	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.536000	0.23129	2.343000	0.79666	0.655000	0.94253	CGG		0.627	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		17	31	0	0	0	1	0	17	31				
DISP1	84976	broad.mit.edu	37	1	223175814	223175814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223175814G>A	ENST00000284476.6	+	8	1239	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	359					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAACTACATCGCCATTCTGAA	0.498											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1075-1077)Gcc>Acc		dispatched homolog 1 (Drosophila)							106.0	103.0	104.0					1																	223175814		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223175814G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1075G>A	1.37:g.223175814G>A	ENSP00000284476:p.Ala359Thr		OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2287		p.A359T	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1239	+			359					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1075G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400908	0.83120	.	.	ENSG00000154309	ENST00000284476	D	0.85088	-1.94	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.90188	0.6933	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90557	0.4513	10	0.66056	D	0.02	-27.3138	19.037	0.92983	0.0:0.0:1.0:0.0	.	359	Q96F81	DISP1_HUMAN	T	359	ENSP00000284476:A359T	ENSP00000284476:A359T	A	+	1	0	DISP1	221242437	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.263000	0.95617	2.738000	0.93877	0.655000	0.94253	GCC		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		52	51	0	0	0	1	0	52	51				
TYW1	55253	broad.mit.edu	37	7	66532333	66532333	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532333G>A	ENST00000359626.5	+	10	1381	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	406					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAGAGCCATCGCTGCATGGAA	0.413																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1216-1218)cGc>cAc		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							157.0	142.0	147.0					7																	66532333		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66532333G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1217G>A	7.37:g.66532333G>A	ENSP00000352645:p.Arg406His						p.R406H	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			10	1381	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	406					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1217G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521149	0.64747	.	.	ENSG00000198874	ENST00000359626	T	0.23552	1.9	4.36	3.47	0.39725	.	0.066845	0.64402	N	0.000009	T	0.38268	0.1034	M	0.92077	3.27	0.49582	D	0.999809	B	0.14438	0.01	B	0.17722	0.019	T	0.36601	-0.9741	10	0.59425	D	0.04	.	9.991	0.41872	0.1036:0.0:0.8964:0.0	.	406	Q9NV66	TYW1_HUMAN	H	406	ENSP00000352645:R406H	ENSP00000352645:R406H	R	+	2	0	TYW1	66169768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.295000	0.72744	0.810000	0.34279	0.508000	0.49915	CGC		0.413	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		99	68	0	0	0	1	0	99	68				
NR4A2	4929	broad.mit.edu	37	2	157184975	157184975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:157184975C>T	ENST00000339562.4	-	4	1297	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	NR4A2_ENST00000539077.1_Missense_Mutation_p.R323Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.R312Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R312Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	312					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R312Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACAGCGATTCCGGCGACGCTT	0.493																																						ENST00000339562.4																			1	Substitution - Missense(1)	p.R312Q(1)	endometrium(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(934-936)cGg>cAg		nuclear receptor subfamily 4, group A, member 2							107.0	98.0	101.0					2																	157184975		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157184975C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.935G>A	2.37:g.157184975C>T	ENSP00000344479:p.Arg312Gln					NR4A2_ENST00000409572.1_Missense_Mutation_p.R312Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R323Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R312Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.R249Q	p.R312Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			4	1297	-			312					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.935G>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155991	0.78114	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	6.07	6.07	0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98559	1.0640	10	0.87932	D	0	.	17.5358	0.87830	0.0:0.8766:0.1234:0.0	.	312	P43354	NR4A2_HUMAN	Q	312;249;312;323;312;249	ENSP00000344479:R312Q;ENSP00000389986:R249Q;ENSP00000386747:R312Q;ENSP00000444925:R323Q;ENSP00000386993:R312Q;ENSP00000410952:R249Q	ENSP00000344479:R312Q	R	-	2	0	NR4A2	156893221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.089000	0.71384	2.885000	0.99019	0.655000	0.94253	CGG		0.493	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			24	37	0	0	0	1	0	24	37				
KIAA1257	57501	broad.mit.edu	37	3	128706480	128706480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706480C>T	ENST00000265068.5	-	4	813	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V104M|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V216M	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	216										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAAGCTCCCACGTCGTCTGTG	0.433																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(646-648)Gtg>Atg		KIAA1257							125.0	122.0	123.0					3																	128706480		1851	4082	5933	SO:0001583	missense	57501							g.chr3:128706480C>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.646G>A	3.37:g.128706480C>T	ENSP00000265068:p.Val216Met					KIAA1257_ENST00000515659.1_Missense_Mutation_p.V104M|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V216M	p.V216M	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			4	813	-			216					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.646G>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	9.695	1.152859	0.21371	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	-10.3	0.00346	.	5.226360	0.00424	N	0.000069	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	D;P	0.54964	0.969;0.917	B;B	0.42882	0.401;0.401	T	0.46414	-0.9193	9	0.42905	T	0.14	0.8029	2.1224	0.03729	0.4758:0.1296:0.0912:0.3033	.	216;216	Q9ULG3;D6RH05	K1257_HUMAN;.	M	216;216;104	.	ENSP00000265068:V216M	V	-	1	0	KIAA1257	130189170	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-7.794000	0.00029	-2.305000	0.00654	-0.225000	0.12378	GTG		0.433	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		24	47	0	0	0	1	0	24	47				
HIF1A	3091	broad.mit.edu	37	14	62204914	62204914	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62204914A>G	ENST00000337138.4	+	10	1624	c.1359A>G	c.(1357-1359)ttA>ttG	p.L453L	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Silent_p.L454L|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Silent_p.L453L|HIF1A_ENST00000539097.1_Silent_p.L477L|HIF1A_ENST00000557538.1_Silent_p.L394L	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	453	ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TGTCTCCATTACCCACCGCTG	0.418																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(1360-1362)ttA>ttG		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							99.0	98.0	98.0					14																	62204914		2203	4300	6503	SO:0001819	synonymous_variant	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62204914A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1359A>G	14.37:g.62204914A>G						HIF1A_ENST00000337138.4_Silent_p.L453L|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Silent_p.L477L|HIF1A_ENST00000557538.1_Silent_p.L394L|HIF1A_ENST00000323441.6_Silent_p.L453L|HIF1A-AS2_ENST00000554254.1_lincRNA	p.L454L			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	10	1627	+			453			ODD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	37	c.1362A>G	CCDS9753.1																																																																																				0.418	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		8	86	0	0	0	1	0	8	86				
PRICKLE2	166336	broad.mit.edu	37	3	64184562	64184562	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184562G>A	ENST00000295902.6	-	2	627	c.42C>T	c.(40-42)agC>agT	p.S14S	PRICKLE2_ENST00000564377.1_Silent_p.S70S|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	14					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACATGAGTTTGCTGATGGTCT	0.542																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(40-42)agC>agT		prickle homolog 2 (Drosophila)							167.0	123.0	138.0					3																	64184562		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64184562G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.42C>T	3.37:g.64184562G>A						PRICKLE2_ENST00000564377.1_Silent_p.S70S|PRICKLE2-AS3_ENST00000473434.1_RNA	p.S14S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	2	627	-		Lung NSC(201;0.136)	14					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.42C>T	CCDS2902.1																																																																																				0.542	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	43	0	0	0	1	0	4	43				
BTK	695	broad.mit.edu	37	X	100604907	100604907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100604907C>A	ENST00000308731.7	-	19	2109	c.1946G>T	c.(1945-1947)aGc>aTc	p.S649I	TIMM8A_ENST00000480575.1_5'Flank|TIMM8A_ENST00000372902.3_5'Flank|BTK_ENST00000372880.1_Missense_Mutation_p.S473I	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGAATATTGCTCAGAAGAAT	0.403									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1945-1947)aGc>aTc		Bruton agammaglobulinemia tyrosine kinase							143.0	143.0	143.0					X																	100604907		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100604907C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1946G>T	X.37:g.100604907C>A	ENSP00000308176:p.Ser649Ile					BTK_ENST00000372880.1_Missense_Mutation_p.S473I	p.S649I	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			19	2109	-			649			Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1946G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393307	0.62066	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000308731	D;D	0.83506	-1.73;-1.73	5.14	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.194635	0.48286	D	0.000189	T	0.81574	0.4851	M	0.62266	1.93	0.34556	D	0.711894	P;B;D;B	0.57899	0.483;0.44;0.981;0.42	B;B;P;B	0.48873	0.085;0.119;0.593;0.077	D	0.83462	0.0054	10	0.32370	T	0.25	.	7.4969	0.27494	0.0:0.7989:0.0:0.2011	.	473;309;224;649	Q5JY90;Q3MS96;Q572P5;Q06187	.;.;.;BTK_HUMAN	I	473;198;129;224;649	ENSP00000361971:S473I;ENSP00000308176:S649I	ENSP00000308176:S649I	S	-	2	0	BTK	100491563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.561000	0.36342	1.083000	0.41159	0.523000	0.50628	AGC		0.403	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		7	233	1	0	8.12818e-05	1	8.99451e-05	7	233				
FMNL1	752	broad.mit.edu	37	17	43320643	43320643	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43320643G>T	ENST00000331495.3	+	17	2505	c.2169G>T	c.(2167-2169)cgG>cgT	p.R723R	FMNL1_ENST00000328118.3_Silent_p.R723R|FMNL1_ENST00000587489.1_Silent_p.R301R|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.4_ENST00000420431.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	723	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCACCCTGCGGAAGGGCAACC	0.637																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2167-2169)cgG>cgT		formin-like 1							53.0	48.0	49.0					17																	43320643		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43320643G>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2169G>T	17.37:g.43320643G>T						FMNL1_ENST00000328118.3_Silent_p.R723R|FMNL1_ENST00000587489.1_Silent_p.R301R	p.R723R	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			17	2505	+			723			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.2169G>T	CCDS11497.1																																																																																				0.637	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		8	60	1	0	1.12685e-05	1	1.27857e-05	8	60				
NEMF	9147	broad.mit.edu	37	14	50295879	50295879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50295879C>T	ENST00000298310.5	-	13	1574	c.1125G>A	c.(1123-1125)tgG>tgA	p.W375*	NEMF_ENST00000546046.1_Nonsense_Mutation_p.W375*|NEMF_ENST00000545773.1_Nonsense_Mutation_p.W333*|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	375					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAATTTCTGTCCAATCTATCT	0.388																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1123-1125)tgG>tgA		nuclear export mediator factor							182.0	175.0	177.0					14																	50295879		2203	4300	6503	SO:0001587	stop_gained	9147					cytoplasm|nucleus		g.chr14:50295879C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1125G>A	14.37:g.50295879C>T	ENSP00000298310:p.Trp375*					NEMF_ENST00000545773.1_Nonsense_Mutation_p.W333*|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Nonsense_Mutation_p.W375*	p.W375*			O60524	NEMF_HUMAN			13	1574	-			375					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Nonsense_Mutation	SNP	ENST00000298310.5	37	c.1125G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	37	6.372882	0.97515	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7	19.0363	0.92980	0.0:1.0:0.0:0.0	.	.	.	.	X	375;333;375;146;333	.	ENSP00000298310:W375X	W	-	3	0	NEMF	49365629	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.241000	0.78201	2.496000	0.84212	0.591000	0.81541	TGG		0.388	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		50	99	0	0	0	1	0	50	99				
ANXA11	311	broad.mit.edu	37	10	81917736	81917736	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81917736T>C	ENST00000438331.1	-	15	1804	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	ANXA11_ENST00000535999.1_Missense_Mutation_p.N441S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N441S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N441S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N408S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N441S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N441S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	441					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CATGGCCTTGTTGAGCCTCTC	0.532																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1321-1323)aAc>aGc		annexin A11							147.0	132.0	137.0					10																	81917736		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81917736T>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1322A>G	10.37:g.81917736T>C	ENSP00000398610:p.Asn441Ser					ANXA11_ENST00000537102.1_Missense_Mutation_p.N408S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N441S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N441S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N441S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N441S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N441S	p.N441S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		15	1804	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		441					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1322A>G	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.97|18.97	3.736654|3.736654	0.69304|0.69304	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219|ENST00000447489	T;T;T;T;T;T;T|.	0.03468|.	3.92;3.92;3.92;3.92;3.92;3.92;3.92|.	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.337294|.	0.32175|.	N|.	0.006465|.	T|T	0.49592|0.49592	0.1566|0.1566	L|L	0.46567|0.46567	1.45|1.45	0.30248|0.30248	N|N	0.794394|0.794394	P;P;P|.	0.50272|.	0.933;0.768;0.768|.	P;P;P|.	0.56343|.	0.796;0.534;0.534|.	T|T	0.51108|0.51108	-0.8747|-0.8747	10|5	0.66056|.	D|.	0.02|.	.|.	12.6267|12.6267	0.56634|0.56634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	541;441;441|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	S|A	441;441;441;441;441;441;441;348;408;88|74	ENSP00000361305:N441S;ENSP00000404412:N441S;ENSP00000398610:N441S;ENSP00000353827:N441S;ENSP00000265447:N441S;ENSP00000441748:N441S;ENSP00000441400:N408S|.	ENSP00000265447:N441S|.	N|T	-|-	2|1	0|0	ANXA11|ANXA11	81907716|81907716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	5.795000|5.795000	0.69074|0.69074	2.019000|2.019000	0.59389|0.59389	0.460000|0.460000	0.39030|0.39030	AAC|ACA		0.532	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		28	51	0	0	0	1	0	28	51				
CAPN6	827	broad.mit.edu	37	X	110494308	110494308	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110494308C>T	ENST00000324068.1	-	8	1162	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R77H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	332	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.R332L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTGAAAGTTGCGGCAAAAGTC	0.438																																						ENST00000324068.1																			1	Substitution - Missense(1)	p.R332L(1)	lung(1)	cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(994-996)cGc>cAc		calpain 6							270.0	247.0	255.0					X																	110494308		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494308C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.995G>A	X.37:g.110494308C>T	ENSP00000317214:p.Arg332His					CAPN6_ENST00000541758.1_Missense_Mutation_p.R77H	p.R332H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1162	-			332			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.995G>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094369	0.36952	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.47177	0.85;2.22	5.95	2.79	0.32731	Peptidase C2, calpain, catalytic domain (3);	0.350629	0.32430	N	0.006112	T	0.35770	0.0943	L	0.52011	1.625	0.26732	N	0.970568	B	0.02656	0.0	B	0.08055	0.003	T	0.27673	-1.0067	10	0.46703	T	0.11	.	3.8524	0.08960	0.1717:0.4298:0.0:0.3985	.	332	Q9Y6Q1	CAN6_HUMAN	H	332;77	ENSP00000317214:R332H;ENSP00000441736:R77H	ENSP00000317214:R332H	R	-	2	0	CAPN6	110380964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.035000	0.49759	0.631000	0.30412	0.600000	0.82982	CGC		0.438	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			173	239	0	0	0	1	0	173	239				
KCNS3	3790	broad.mit.edu	37	2	18113005	18113005	+	Missense_Mutation	SNP	G	G	A	rs367935090		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18113005G>A	ENST00000403915.1	+	3	1181	c.730G>A	c.(730-732)Gct>Act	p.A244T	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.A244T	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	244					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTGGCTGCCGCTCCTTGTCA	0.522																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(730-732)Gct>Act		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3		G	THR/ALA	0,4406		0,0,2203	95.0	95.0	95.0		730	6.1	1.0	2		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNS3	NM_002252.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	244/492	18113005	1,13005	2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113005G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.730G>A	2.37:g.18113005G>A	ENSP00000385968:p.Ala244Thr					KCNS3_ENST00000304101.4_Missense_Mutation_p.A244T|KCNS3_ENST00000465292.1_Intron	p.A244T			Q9BQ31	KCNS3_HUMAN			3	1181	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		244					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.730G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.865007	0.51482	0.0	1.16E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97791	-4.54;-4.54	6.07	6.07	0.98685	Ion transport (1);	0.048538	0.85682	D	0.000000	D	0.95274	0.8467	L	0.45051	1.395	0.52099	D	0.999947	P	0.42483	0.781	B	0.31442	0.13	D	0.94524	0.7730	10	0.41790	T	0.15	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	244	Q9BQ31	KCNS3_HUMAN	T	244	ENSP00000385968:A244T;ENSP00000305824:A244T	ENSP00000305824:A244T	A	+	1	0	KCNS3	17976486	1.000000	0.71417	0.981000	0.43875	0.897000	0.52465	5.195000	0.65131	2.884000	0.98904	0.655000	0.94253	GCT		0.522	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		33	60	0	0	0	1	0	33	60				
CYP11B1	1584	broad.mit.edu	37	8	143955889	143955889	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143955889A>G	ENST00000292427.4	-	9	1444	c.1412T>C	c.(1411-1413)cTc>cCc	p.L471P	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L542P|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L405P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	471					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCCACCTGGAGGTGTTTCAG	0.532									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1411-1413)cTc>cCc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						160.0	134.0	143.0					8																	143955889		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143955889A>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1412T>C	8.37:g.143955889A>G	ENSP00000292427:p.Leu471Pro					CYP11B1_ENST00000517471.1_Missense_Mutation_p.L405P|CYP11B1_ENST00000377675.3_Missense_Mutation_p.L542P	p.L471P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			9	1444	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		471					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1412T>C	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.59	2.282846	0.40394	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;D;T	0.85013	-0.41;-0.41;-1.93;-0.41	4.01	4.01	0.46588	.	0.129247	0.35555	N	0.003136	D	0.86847	0.6031	L	0.43152	1.355	0.52501	D	0.999956	P;P;P;P;D	0.57571	0.521;0.666;0.785;0.78;0.98	P;B;P;P;P	0.60345	0.603;0.416;0.628;0.634;0.873	D	0.87681	0.2547	10	0.87932	D	0	.	11.1424	0.48411	1.0:0.0:0.0:0.0	.	542;471;405;471;121	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	P	149;471;405;542	ENSP00000430144:L149P;ENSP00000292427:L471P;ENSP00000428043:L405P;ENSP00000366903:L542P	ENSP00000292427:L471P	L	-	2	0	CYP11B1	143952891	1.000000	0.71417	0.053000	0.19242	0.209000	0.24338	5.479000	0.66813	1.586000	0.49944	0.533000	0.62120	CTC		0.532	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			7	50	0	0	0	1	0	7	50				
SPTBN1	6711	broad.mit.edu	37	2	54858298	54858298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54858298C>T	ENST00000356805.4	+	16	3395	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SPTBN1_ENST00000333896.5_Silent_p.A1025A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1038					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCGGCTGGCCGAGATCAGCG	0.627																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(3073-3075)gcC>gcT		spectrin, beta, non-erythrocytic 1							54.0	68.0	63.0					2																	54858298		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858298C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3114C>T	2.37:g.54858298C>T						SPTBN1_ENST00000356805.4_Silent_p.A1038A	p.A1025A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3460	+			1038					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.3075C>T	CCDS33198.1																																																																																				0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			23	49	0	0	0	1	0	23	49				
CHD4	1108	broad.mit.edu	37	12	6700693	6700693	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6700693G>A	ENST00000357008.2	-	22	3442	c.3279C>T	c.(3277-3279)taC>taT	p.Y1093Y	CHD4_ENST00000309577.6_Silent_p.Y1093Y|CHD4_ENST00000544040.1_Silent_p.Y1086Y|CHD4_ENST00000544484.1_Silent_p.Y1090Y	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1093	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CGATGCGTTCGTATTTATAAC	0.438																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3277-3279)taC>taT		chromodomain helicase DNA binding protein 4							213.0	185.0	194.0					12																	6700693		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700693G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3279C>T	12.37:g.6700693G>A						CHD4_ENST00000544040.1_Silent_p.Y1086Y|CHD4_ENST00000544484.1_Silent_p.Y1090Y|CHD4_ENST00000357008.2_Silent_p.Y1093Y	p.Y1093Y			Q14839	CHD4_HUMAN			22	3442	-			1093			Helicase C-terminal.		Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.3279C>T	CCDS8552.1																																																																																				0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		6	128	0	0	0	1	0	6	128				
OR5D14	219436	broad.mit.edu	37	11	55563455	55563455	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55563455C>T	ENST00000335605.1	+	1	424	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCACAGAGGCTCTGTGCCCT	0.522																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(424-426)Ctc>Ttc		olfactory receptor, family 5, subfamily D, member 14							111.0	102.0	105.0					11																	55563455		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563455C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.424C>T	11.37:g.55563455C>T	ENSP00000334456:p.Leu142Phe						p.L142F	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	424	+		all_epithelial(135;0.196)	142					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.424C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	5.659	0.306299	0.10733	.	.	ENSG00000186113	ENST00000335605	T	0.00227	8.5	5.08	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001178	T	0.00178	0.0005	L	0.56280	1.765	0.09310	N	1	B	0.27625	0.183	B	0.35688	0.208	T	0.38950	-0.9637	10	0.66056	D	0.02	-16.9041	1.6816	0.02832	0.1691:0.4856:0.1637:0.1816	.	142	Q8NGL3	OR5DE_HUMAN	F	142	ENSP00000334456:L142F	ENSP00000334456:L142F	L	+	1	0	OR5D14	55320031	0.000000	0.05858	0.060000	0.19600	0.090000	0.18270	-0.942000	0.03921	1.142000	0.42291	0.643000	0.83706	CTC		0.522	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		41	45	0	0	0	1	0	41	45				
CADM1	23705	broad.mit.edu	37	11	115111086	115111086	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111086G>A	ENST00000452722.3	-	2	199	c.179C>T	c.(178-180)gCg>gTg	p.A60V	CADM1_ENST00000331581.6_Missense_Mutation_p.A60V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.A60V|CADM1_ENST00000542447.2_Missense_Mutation_p.A60V|CADM1_ENST00000536727.1_Missense_Mutation_p.A60V	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACTGATGGTCGCAACCTCTCC	0.433																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(178-180)gCg>gTg		cell adhesion molecule 1							109.0	100.0	103.0					11																	115111086		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115111086G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.179C>T	11.37:g.115111086G>A	ENSP00000395359:p.Ala60Val					CADM1_ENST00000536727.1_Missense_Mutation_p.A60V|CADM1_ENST00000537058.1_Missense_Mutation_p.A60V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.A60V|CADM1_ENST00000331581.6_Missense_Mutation_p.A60V	p.A60V	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	2	307	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	60			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.179C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.511972|4.511972	0.85389|0.85389	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249	T;T;T;T;T;T|.	0.58652|.	0.32;0.32;0.32;0.32;0.32;0.32|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69540|.	0.3122|.	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.976;0.999|.	D;D;D;P;D|.	0.85130|.	0.994;0.997;0.996;0.683;0.992|.	T|.	0.63010|.	-0.6732|.	10|.	0.06891|.	T|.	0.86|.	.|.	20.4238|20.4238	0.99064|0.99064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	60;60;61;60;60|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	V|X	60;60;60;60;19;60;27|44	ENSP00000439176:A60V;ENSP00000395359:A60V;ENSP00000439817:A60V;ENSP00000440322:A60V;ENSP00000329797:A60V;ENSP00000439696:A27V|.	ENSP00000329797:A60V|.	A|R	-|-	2|1	0|2	CADM1|CADM1	114616296|114616296	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.973000|0.973000	0.67179|0.67179	9.434000|9.434000	0.97515|0.97515	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		19	25	0	0	0	1	0	19	25				
SH2B1	25970	broad.mit.edu	37	16	28883304	28883304	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28883304G>T	ENST00000322610.8	+	8	1952	c.1513G>T	c.(1513-1515)Ggg>Tgg	p.G505W	SH2B1_ENST00000538342.1_Splice_Site_p.G169W|SH2B1_ENST00000337120.5_Splice_Site_p.G505W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Splice_Site_p.G505W|SH2B1_ENST00000545570.1_Splice_Site_p.G195W|SH2B1_ENST00000395532.4_Splice_Site_p.G505W			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	505	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AACAGCCACAGGTACCGGAGG	0.642																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.e5+1		SH2B adaptor protein 1							35.0	34.0	34.0					16																	28883304		2197	4300	6497	SO:0001630	splice_region_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883304G>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1513+1G>T	16.37:g.28883304G>T						SH2B1_ENST00000545570.1_Splice_Site_p.G195_splice|SH2B1_ENST00000322610.8_Splice_Site_p.G505_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G505_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G505_splice|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Splice_Site_p.G169_splice	p.G505_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			5	4804	+			505			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Splice_Site	SNP	ENST00000322610.8	37	c.1513_splice	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831376	0.71258	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.51574	0.7;1.35;0.71;1.27;0.74;0.74	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000013	T	0.53786	0.1818	N	0.14661	0.345	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;1.0	D;D;D;D;D	0.97110	0.956;1.0;0.965;0.998;1.0	T	0.61955	-0.6956	10	0.66056	D	0.02	-29.3848	17.3829	0.87409	0.0:0.0:1.0:0.0	.	169;195;505;505;505	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	W	505;195;505;169;505;505	ENSP00000321221:G505W;ENSP00000440354:G195W;ENSP00000352232:G505W;ENSP00000438784:G169W;ENSP00000378903:G505W;ENSP00000337163:G505W	ENSP00000321221:G505W	G	+	1	0	SH2B1	28790805	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	3.820000	0.55693	2.389000	0.81357	0.591000	0.81541	GGG		0.642	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	Missense_Mutation	9	18	1	0	6.40141e-05	1	7.11719e-05	9	18				
KCNT2	343450	broad.mit.edu	37	1	196367748	196367748	+	Silent	SNP	A	A	G	rs12738104		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196367748A>G	ENST00000294725.9	-	13	2154	c.1239T>C	c.(1237-1239)tgT>tgC	p.C413C	KCNT2_ENST00000451324.2_Silent_p.C24C|KCNT2_ENST00000367433.5_Silent_p.C413C|KCNT2_ENST00000609185.1_Silent_p.C413C|KCNT2_ENST00000367431.4_Silent_p.C413C|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	413			C -> W (in dbSNP:rs12738104).		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATACAAAGGACAATTTGGAG	0.323																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1237-1239)tgT>tgC		potassium channel, subfamily T, member 2							68.0	71.0	70.0					1																	196367748		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196367748A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1239T>C	1.37:g.196367748A>G						KCNT2_ENST00000451324.2_Silent_p.C24C|KCNT2_ENST00000294725.8_Silent_p.C413C|KCNT2_ENST00000367431.4_Silent_p.C413C|KCNT2_ENST00000498426.1_5'UTR	p.C413C			Q6UVM3	KCNT2_HUMAN			13	1340	-			413		C -> W (in dbSNP:rs12738104).			Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.1239T>C	CCDS1384.1																																																																																				0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		31	38	0	0	0	1	0	31	38				
KIAA1456	57604	broad.mit.edu	37	8	12863727	12863727	+	Missense_Mutation	SNP	G	G	A	rs192500625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12863727G>A	ENST00000524591.2	+	3	505	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	KIAA1456_ENST00000447063.2_Missense_Mutation_p.A6T|KIAA1456_ENST00000400069.3_Missense_Mutation_p.A6T|KIAA1456_ENST00000528335.1_3'UTR|KIAA1456_ENST00000528753.2_Missense_Mutation_p.A6T	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	6							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCATGAAGCCGCCCAGCTGGA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		20110	0.0		0.001	False		,,,				2504	0.0					ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(16-18)Gcc>Acc		KIAA1456							53.0	54.0	54.0					8																	12863727		2079	4210	6289	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12863727G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.16G>A	8.37:g.12863727G>A	ENSP00000432695:p.Ala6Thr					KIAA1456_ENST00000528753.2_Missense_Mutation_p.A6T|KIAA1456_ENST00000528335.1_3'UTR|KIAA1456_ENST00000400069.3_Missense_Mutation_p.A6T|KIAA1456_ENST00000447063.2_Missense_Mutation_p.A6T	p.A6T	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			3	505	+			6					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.16G>A	CCDS47808.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.09	2.134508	0.37630	.	.	ENSG00000250305	ENST00000447063;ENST00000524591;ENST00000532376	T	0.10477	2.87	5.66	1.33	0.21861	.	.	.	.	.	T	0.04543	0.0124	N	0.11698	0.16	0.19300	N	0.999976	B;B	0.33940	0.433;0.07	B;B	0.17979	0.02;0.007	T	0.36311	-0.9753	9	0.56958	D	0.05	.	4.5251	0.11978	0.2222:0.0:0.2397:0.5381	.	6;6	E9PK20;Q9P272	.;K1456_HUMAN	T	6	ENSP00000432695:A6T	ENSP00000443288:A6T	A	+	1	0	AC135352.2	12908098	0.905000	0.30787	0.057000	0.19452	0.671000	0.39405	2.027000	0.41078	0.337000	0.23665	0.655000	0.94253	GCC		0.542	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		9	16	0	0	0	1	0	9	16				
FFAR2	2867	broad.mit.edu	37	19	35940854	35940854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35940854G>A	ENST00000599180.2	+	2	318	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.V80I			O15552	FFAR2_HUMAN	free fatty acid receptor 2	80					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGCCCAAGGTCGTCTGCGC	0.622																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(238-240)Gtc>Atc		free fatty acid receptor 2							56.0	45.0	49.0					19																	35940854		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940854G>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.238G>A	19.37:g.35940854G>A	ENSP00000473159:p.Val80Ile					FFAR2_ENST00000246549.2_Missense_Mutation_p.V80I|FFAR2_ENST00000601590.1_Intron	p.V80I			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	318	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		80					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.238G>A	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.434120	0.00182	.	.	ENSG00000126262	ENST00000246549	T	0.72051	-0.62	5.48	-11.0	0.00169	GPCR, rhodopsin-like superfamily (1);	1.303420	0.05261	N	0.515785	T	0.40196	0.1107	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.02654	T	1	-0.3029	6.8663	0.24094	0.1118:0.1606:0.5141:0.2135	.	80	O15552	FFAR2_HUMAN	I	80	ENSP00000246549:V80I	ENSP00000246549:V80I	V	+	1	0	FFAR2	40632694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.789000	0.01761	-2.862000	0.00326	-1.267000	0.01435	GTC		0.622	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		10	16	0	0	0	1	0	10	16				
RANBP9	10048	broad.mit.edu	37	6	13657462	13657462	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13657462C>T	ENST00000011619.3	-	4	841	c.783G>A	c.(781-783)tcG>tcA	p.S261S	RANBP9_ENST00000539980.1_Silent_p.S32S	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	261	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AAGAACAAAACGAATGTCCAT	0.393																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(781-783)tcG>tcA		RAN binding protein 9							174.0	135.0	148.0					6																	13657462		2203	4300	6503	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13657462C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.783G>A	6.37:g.13657462C>T						RANBP9_ENST00000539980.1_Silent_p.S32S	p.S261S	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		4	841	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	261			B30.2/SPRY.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.783G>A	CCDS4529.1																																																																																				0.393	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			24	35	0	0	0	1	0	24	35				
GPR101	83550	broad.mit.edu	37	X	136112328	136112328	+	Silent	SNP	G	G	A	rs150021829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136112328G>A	ENST00000298110.1	-	1	1505	c.1506C>T	c.(1504-1506)taC>taT	p.Y502Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	502						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGCAGAATCGTAGGAAGGGA	0.463																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(1504-1506)taC>taT		G protein-coupled receptor 101		G		0,3835		0,0,1632,571	85.0	79.0	81.0		1506	-9.6	0.0	X	dbSNP_134	81	1,6727		0,1,2427,1872	no	coding-synonymous	GPR101	NM_054021.1		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		502/509	136112328	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112328G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1506C>T	X.37:g.136112328G>A							p.Y502Y	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	1505	-	Acute lymphoblastic leukemia(192;0.000127)		502					Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.1506C>T	CCDS14662.1																																																																																				0.463	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			27	42	0	0	0	1	0	27	42				
OR51E1	143503	broad.mit.edu	37	11	4674065	4674065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4674065G>T	ENST00000396952.5	+	2	959	c.309G>T	c.(307-309)caG>caT	p.Q103H	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGCTACAGATGTTTGCCA	0.517																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(307-309)caG>caT		olfactory receptor, family 51, subfamily E, member 1							127.0	87.0	100.0					11																	4674065		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674065G>T	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.309G>T	11.37:g.4674065G>T	ENSP00000380155:p.Gln103His					OR51E1_ENST00000530215.1_Intron	p.Q103H	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	959	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	102					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.309G>T	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733180	0.48939	.	.	ENSG00000180785	ENST00000396952	T	0.00472	7.19	4.98	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.118294	0.38381	N	0.001710	T	0.02418	0.0074	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08806	-1.0704	10	0.87932	D	0	.	9.8993	0.41338	0.2357:0.0:0.7643:0.0	.	102	Q8TCB6	O51E1_HUMAN	H	103	ENSP00000380155:Q103H	ENSP00000380155:Q103H	Q	+	3	2	OR51E1	4630641	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.449000	0.35123	0.694000	0.31654	-0.136000	0.14681	CAG		0.517	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		6	49	1	0	0.00116845	1	0.00124821	6	49				
DNAH7	56171	broad.mit.edu	37	2	196642621	196642621	+	Missense_Mutation	SNP	C	C	T	rs200673622		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196642621C>T	ENST00000312428.6	-	59	11067	c.10967G>A	c.(10966-10968)cGc>cAc	p.R3656H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R139H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3656					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGAATGCTGCGCAGCGTGCG	0.468																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(10966-10968)cGc>cAc		dynein, axonemal, heavy chain 7		C	HIS/ARG	0,4282		0,0,2141	95.0	97.0	96.0		10967	5.0	1.0	2		96	1,8561		0,1,4280	yes	missense	DNAH7	NM_018897.2	29	0,1,6421	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	3656/4025	196642621	1,12843	2141	4281	6422	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196642621C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10967G>A	2.37:g.196642621C>T	ENSP00000311273:p.Arg3656His					DNAH7_ENST00000409063.1_Missense_Mutation_p.R139H	p.R3656H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			59	11067	-			3656					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10967G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347483	0.61183	0.0	1.17E-4	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09445	2.98;2.98	4.98	4.98	0.66077	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	M	0.67569	2.06	0.80722	D	1	D	0.55800	0.973	P	0.56788	0.806	T	0.00544	-1.1679	10	0.45353	T	0.12	.	18.0378	0.89309	0.0:1.0:0.0:0.0	.	3656	Q8WXX0	DYH7_HUMAN	H	3656;139	ENSP00000311273:R3656H;ENSP00000386912:R139H	ENSP00000311273:R3656H	R	-	2	0	DNAH7	196350866	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.608000	0.46308	2.583000	0.87209	0.655000	0.94253	CGC		0.468	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	44	0	0	0	1	0	21	44				
TET2	54790	broad.mit.edu	37	4	106155691	106155691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155691G>A	ENST00000540549.1	+	3	1452	c.592G>A	c.(592-594)Gta>Ata	p.V198I	TET2_ENST00000413648.2_Missense_Mutation_p.V198I|TET2_ENST00000305737.2_Missense_Mutation_p.V198I|TET2_ENST00000394764.1_Missense_Mutation_p.V198I|TET2_ENST00000380013.4_Missense_Mutation_p.V198I|TET2_ENST00000513237.1_Missense_Mutation_p.V219I|TET2_ENST00000545826.1_Missense_Mutation_p.V198I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	198					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAGAACATTGTATTACTTAA	0.428			"""Mis N, F"""		MDS																																	ENST00000540549.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(592-594)Gta>Ata		tet methylcytosine dioxygenase 2							77.0	62.0	67.0					4																	106155691		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155691G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.592G>A	4.37:g.106155691G>A	ENSP00000442788:p.Val198Ile					TET2_ENST00000394764.1_Missense_Mutation_p.V198I|TET2_ENST00000545826.1_Missense_Mutation_p.V198I|TET2_ENST00000413648.2_Missense_Mutation_p.V198I|TET2_ENST00000513237.1_Missense_Mutation_p.V219I|TET2_ENST00000305737.2_Missense_Mutation_p.V198I|TET2_ENST00000380013.4_Missense_Mutation_p.V198I	p.V198I			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1452	+		Myeloproliferative disorder(5;0.0393)	198					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.592G>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	9.028	0.986549	0.18889	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.04156	3.69;4.36;3.69;4.36;4.36;3.69;3.7	5.19	1.39	0.22231	.	1.612780	0.04317	N	0.350056	T	0.04452	0.0122	N	0.19112	0.55	0.18873	N	0.999985	B;B;B	0.18166	0.004;0.004;0.026	B;B;B	0.18561	0.003;0.003;0.022	T	0.44065	-0.9352	10	0.56958	D	0.05	.	6.0554	0.19809	0.2381:0.135:0.6269:0.0	.	219;198;198	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	198;198;198;219;198;198;198;198	ENSP00000306705:V198I;ENSP00000442788:V198I;ENSP00000442867:V198I;ENSP00000425443:V219I;ENSP00000369351:V198I;ENSP00000378245:V198I;ENSP00000391448:V198I	ENSP00000265149:V198I	V	+	1	0	TET2	106375140	1.000000	0.71417	0.036000	0.18154	0.391000	0.30476	1.320000	0.33666	-0.058000	0.13177	-0.136000	0.14681	GTA		0.428	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		11	31	0	0	0	1	0	11	31				
ELF4	2000	broad.mit.edu	37	X	129205192	129205192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129205192A>G	ENST00000308167.5	-	7	1011	c.632T>C	c.(631-633)cTg>cCg	p.L211P	ELF4_ENST00000335997.7_Missense_Mutation_p.L211P	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACTCCCACAGATAGATGGT	0.617			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(631-633)cTg>cCg		E74-like factor 4 (ets domain transcription factor)							89.0	74.0	79.0					X																	129205192		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129205192A>G	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.632T>C	X.37:g.129205192A>G	ENSP00000311280:p.Leu211Pro					ELF4_ENST00000335997.7_Missense_Mutation_p.L211P	p.L211P	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			7	1011	-			211						Missense_Mutation	SNP	ENST00000308167.5	37	c.632T>C	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194708	0.78902	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.74737	-0.87;-0.87	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000003	D	0.89887	0.6845	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92376	0.5909	10	0.87932	D	0	.	12.1905	0.54268	1.0:0.0:0.0:0.0	.	211	Q99607	ELF4_HUMAN	P	211	ENSP00000338608:L211P;ENSP00000311280:L211P	ENSP00000311280:L211P	L	-	2	0	ELF4	129032873	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	9.307000	0.96226	1.782000	0.52362	0.356000	0.21956	CTG		0.617	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		4	75	0	0	0	1	0	4	75				
ZADH2	284273	broad.mit.edu	37	18	72913976	72913976	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72913976A>G	ENST00000322342.3	-	2	818	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L	ZADH2_ENST00000537114.2_Silent_p.L54L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	177						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GCTGTCACCAAAACTTTTTTC	0.517																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(529-531)Ttg>Ctg		zinc binding alcohol dehydrogenase domain containing 2							266.0	282.0	276.0					18																	72913976		2203	4300	6503	SO:0001819	synonymous_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913976A>G	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.529T>C	18.37:g.72913976A>G						ZADH2_ENST00000537114.2_Silent_p.L54L	p.L177L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	818	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	177					A8KA15|B4DZ91	Silent	SNP	ENST00000322342.3	37	c.529T>C	CCDS12008.1																																																																																				0.517	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		168	245	0	0	0	1	0	168	245				
HOXA1	3198	broad.mit.edu	37	7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27134370G>A	ENST00000343060.4	-	2	758	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	233					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R233C(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTGGTGCGCACCGCGTTG	0.537																																						ENST00000343060.4																			2	Substitution - Missense(2)	p.R233C(2)	large_intestine(1)|endometrium(1)	endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(697-699)Cgc>Tgc		homeobox A1							96.0	87.0	90.0					7																	27134370		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134370G>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.697C>T	7.37:g.27134370G>A	ENSP00000343246:p.Arg233Cys					HOXA1_ENST00000355633.5_3'UTR	p.R233C	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			2	758	-			233					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.697C>T	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499115	0.64298	.	.	ENSG00000105991	ENST00000343060	D	0.99186	-5.53	5.31	5.31	0.75309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.046812	0.85682	D	0.000000	D	0.99609	0.9858	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97614	1.0131	10	0.87932	D	0	.	13.2081	0.59809	0.0:0.0:0.7196:0.2804	.	233	P49639	HXA1_HUMAN	C	233	ENSP00000343246:R233C	ENSP00000343246:R233C	R	-	1	0	HOXA1	27100895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.432000	0.44784	2.495000	0.84180	0.655000	0.94253	CGC		0.537	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			5	96	0	0	0	1	0	5	96				
SMAD9	4093	broad.mit.edu	37	13	37439691	37439691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439691C>A	ENST00000399275.2	-	4	1125	c.986G>T	c.(985-987)aGg>aTg	p.R329M	SMAD9_ENST00000350148.5_Missense_Mutation_p.R292M|SMAD9_ENST00000379826.4_Missense_Mutation_p.R329M			O15198	SMAD9_HUMAN	SMAD family member 9	329	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATATGTCTCCTGGTATTTTC	0.413																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(985-987)aGg>aTg		SMAD family member 9							109.0	100.0	103.0					13																	37439691		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37439691C>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.986G>T	13.37:g.37439691C>A	ENSP00000382216:p.Arg329Met					SMAD9_ENST00000350148.5_Missense_Mutation_p.R292M|SMAD9_ENST00000399275.2_Missense_Mutation_p.R329M	p.R329M	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	5	1328	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	329			MH2.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.986G>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560922	0.86335	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.99695	-6.43;-6.43;-6.43	5.14	5.14	0.70334	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96813	0.9598	10	0.87932	D	0	.	17.9416	0.89027	0.0:1.0:0.0:0.0	.	292;329	O15198-2;O15198	.;SMAD9_HUMAN	M	329;292;329	ENSP00000382216:R329M;ENSP00000239885:R292M;ENSP00000369154:R329M	ENSP00000239885:R292M	R	-	2	0	SMAD9	36337691	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.720000	0.84759	2.562000	0.86427	0.591000	0.81541	AGG		0.413	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		14	55	1	0	2.31682e-05	1	2.60394e-05	14	55				
SLC9A1	6548	broad.mit.edu	37	1	27426801	27426801	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426801C>T	ENST00000263980.3	-	12	3020	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q	SLC9A1_ENST00000545949.1_Silent_p.Q476Q|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	815					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCTGGTGTTACTGCCCCTTGG	0.667																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2443-2445)caG>caA		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						27.0	30.0	29.0					1																	27426801		2203	4299	6502	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27426801C>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2445G>A	1.37:g.27426801C>T						SLC9A1_ENST00000545949.1_Silent_p.Q476Q	p.Q815Q	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	3020	-			815					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.2445G>A	CCDS295.1																																																																																				0.667	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		11	15	0	0	0	1	0	11	15				
TRRAP	8295	broad.mit.edu	37	7	98555694	98555694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98555694C>A	ENST00000359863.4	+	43	6510	c.6301C>A	c.(6301-6303)Ctt>Att	p.L2101I	TRRAP_ENST00000446306.3_Missense_Mutation_p.L2082I|TRRAP_ENST00000355540.3_Missense_Mutation_p.L2083I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2101	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGAACTTCCTTATCCGCGT	0.572																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(6301-6303)Ctt>Att		transformation/transcription domain-associated protein							135.0	101.0	112.0					7																	98555694		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98555694C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6301C>A	7.37:g.98555694C>A	ENSP00000352925:p.Leu2101Ile					TRRAP_ENST00000355540.3_Missense_Mutation_p.L2083I|TRRAP_ENST00000446306.3_Missense_Mutation_p.L2082I	p.L2101I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		43	6510	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2101			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.6301C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738594	0.89573	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.08807	3.05;3.05	5.61	4.54	0.55810	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	L	0.38838	1.175	0.80722	D	1	D;D;D	0.65815	0.995;0.991;0.991	P;P;P	0.60173	0.87;0.634;0.745	T	0.00305	-1.1831	10	0.66056	D	0.02	.	14.36	0.66766	0.0:0.8748:0.0:0.1252	.	2083;1822;2101	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	2101;2083;2081	ENSP00000352925:L2101I;ENSP00000347733:L2083I	ENSP00000347733:L2083I	L	+	1	0	TRRAP	98393630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.462000	0.45049	2.642000	0.89623	0.655000	0.94253	CTT		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	26	1	0	0.010729	1	0.0111717	10	26				
UBE2H	7328	broad.mit.edu	37	7	129474840	129474840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129474840G>A	ENST00000355621.3	-	7	882	c.489C>T	c.(487-489)gaC>gaT	p.D163D	UBE2H_ENST00000473814.2_Silent_p.D132D	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	163					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCGATGAGCTGTCCCCGGTAC	0.498																																						ENST00000355621.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10						c.(487-489)gaC>gaT		ubiquitin-conjugating enzyme E2H							94.0	88.0	90.0					7																	129474840		2203	4300	6503	SO:0001819	synonymous_variant	7328				protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity	g.chr7:129474840G>A	BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.489C>T	7.37:g.129474840G>A						UBE2H_ENST00000473814.2_Silent_p.D132D	p.D163D	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN			7	882	-	Melanoma(18;0.0435)		163					A4D1L6|C9JY93|P37286|Q7Z6F4	Silent	SNP	ENST00000355621.3	37	c.489C>T	CCDS5814.1																																																																																				0.498	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2	NM_003344		10	75	0	0	0	1	0	10	75				
DUSP7	1849	broad.mit.edu	37	3	52088116	52088116	+	Silent	SNP	G	G	A	rs377076614		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088116G>A	ENST00000495880.1	-	2	975	c.792C>T	c.(790-792)gaC>gaT	p.D264D	DUSP7_ENST00000296483.6_Silent_p.D213D			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	264					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCGAGCACGTCCAGGTTGG	0.592																																						ENST00000495880.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(790-792)gaC>gaT		dual specificity phosphatase 7		G		1,4405	2.1+/-5.4	0,1,2202	293.0	262.0	272.0		792	0.0	1.0	3		272	0,8600		0,0,4300	no	coding-synonymous	DUSP7	NM_001947.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		264/420	52088116	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52088116G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.792C>T	3.37:g.52088116G>A						DUSP7_ENST00000296483.6_Silent_p.D213D	p.D264D			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	975	-			264					Q2M3J7|Q8NFJ0	Silent	SNP	ENST00000495880.1	37	c.792C>T	CCDS33766.2																																																																																				0.592	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		47	65	0	0	0	1	0	47	65				
GIMAP8	155038	broad.mit.edu	37	7	150171396	150171396	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150171396T>G	ENST00000307271.3	+	4	1553	c.979T>G	c.(979-981)Ttc>Gtc	p.F327V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	327	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCCCCATGCCTTCCTGCTGGT	0.413																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(979-981)Ttc>Gtc		GTPase, IMAP family member 8							60.0	63.0	62.0					7																	150171396		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171396T>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.979T>G	7.37:g.150171396T>G	ENSP00000305107:p.Phe327Val						p.F327V	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1553	+			327						Missense_Mutation	SNP	ENST00000307271.3	37	c.979T>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860938	0.51482	.	.	ENSG00000171115	ENST00000307271	T	0.03772	3.81	4.47	0.483	0.16820	AIG1 (1);	0.308598	0.23581	N	0.046643	T	0.10680	0.0261	L	0.55743	1.74	0.26907	N	0.966983	D	0.89917	1.0	D	0.87578	0.998	T	0.17961	-1.0352	10	0.66056	D	0.02	.	0.6531	0.00830	0.2089:0.1225:0.2159:0.4527	.	327	Q8ND71	GIMA8_HUMAN	V	327	ENSP00000305107:F327V	ENSP00000305107:F327V	F	+	1	0	GIMAP8	149802329	0.001000	0.12720	0.985000	0.45067	0.641000	0.38312	-0.261000	0.08694	0.204000	0.20548	0.528000	0.53228	TTC		0.413	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		4	81	0	0	0	1	0	4	81				
ZC3H13	23091	broad.mit.edu	37	13	46549874	46549874	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46549874C>A	ENST00000242848.4	-	12	2360	c.2012G>T	c.(2011-2013)aGg>aTg	p.R671M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R671M			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	671	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATCTCTCCTATCATCCAC	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2011-2013)aGg>aTg		zinc finger CCCH-type containing 13							268.0	159.0	196.0					13																	46549874		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46549874C>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2012G>T	13.37:g.46549874C>A	ENSP00000242848:p.Arg671Met					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R671M	p.R671M			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2360	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	671			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2012G>T		.	.	.	.	.	.	.	.	.	.	C	11.34	1.608422	0.28623	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.37058	2.21;1.22	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.63780	0.2540	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.66340	-0.5948	9	0.59425	D	0.04	.	19.2441	0.93895	0.0:1.0:0.0:0.0	.	671;671	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	M	671	ENSP00000242848:R671M;ENSP00000282007:R671M	ENSP00000242848:R671M	R	-	2	0	ZC3H13	45447875	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	6.180000	0.71981	2.607000	0.88179	0.557000	0.71058	AGG		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		6	39	1	0	8.12818e-05	1	8.99451e-05	6	39				
ZNF770	54989	broad.mit.edu	37	15	35275397	35275397	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35275397G>T	ENST00000356321.4	-	3	583	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	80					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACATTTAAAAGGCAGACTATG	0.353																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(238-240)cCt>cAt		zinc finger protein 770							85.0	85.0	85.0					15																	35275397		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275397G>T	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.239C>A	15.37:g.35275397G>T	ENSP00000348673:p.Pro80His						p.P80H	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	583	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	80					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.239C>A	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261152	0.59431	.	.	ENSG00000198146	ENST00000356321	T	0.21361	2.01	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000002	T	0.47358	0.1441	M	0.72624	2.21	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.49437	-0.8940	10	0.87932	D	0	-9.9616	17.1786	0.86848	0.0:0.0:1.0:0.0	.	80	Q6IQ21	ZN770_HUMAN	H	80	ENSP00000348673:P80H	ENSP00000348673:P80H	P	-	2	0	ZNF770	33062689	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.849000	0.62882	2.515000	0.84797	0.655000	0.94253	CCT		0.353	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		25	60	1	0	9.86323e-18	1	1.2813e-17	25	60				
PTPN9	5780	broad.mit.edu	37	15	75815540	75815540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75815540C>A	ENST00000306726.2	-	4	856	c.344G>T	c.(343-345)aGg>aTg	p.R115M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	115	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATGCAACCTGGCAGTAAA	0.398																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(343-345)aGg>aTg		protein tyrosine phosphatase, non-receptor type 9							114.0	113.0	113.0					15																	75815540		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75815540C>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.344G>T	15.37:g.75815540C>A	ENSP00000303554:p.Arg115Met						p.R115M	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			4	856	-			115			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.344G>T	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455089	0.84209	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84944	-1.92	5.66	4.56	0.56223	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.090794	0.85682	D	0.000000	D	0.85974	0.5822	L	0.47716	1.5	0.40684	D	0.982333	P	0.49253	0.921	P	0.57371	0.819	D	0.86162	0.1594	10	0.72032	D	0.01	.	7.6547	0.28369	0.0:0.7862:0.0:0.2138	.	115	P43378	PTN9_HUMAN	M	115;105	ENSP00000303554:R115M	ENSP00000303554:R115M	R	-	2	0	PTPN9	73602595	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	3.610000	0.54125	2.680000	0.91292	0.561000	0.74099	AGG		0.398	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			21	26	1	0	3.5997e-14	1	4.58862e-14	21	26				
EDEM3	80267	broad.mit.edu	37	1	184663407	184663407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184663407C>T	ENST00000318130.8	-	20	2855	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Silent_p.Q836Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	863					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATTAGAAGTCTGTTCAGAAG	0.373																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2587-2589)caG>caA		ER degradation enhancer, mannosidase alpha-like 3							123.0	118.0	120.0					1																	184663407		2203	4299	6502	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184663407C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2589G>A	1.37:g.184663407C>T						EDEM3_ENST00000367512.3_Silent_p.Q836Q	p.Q863Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			20	2855	-			863					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.2589G>A	CCDS1363.2																																																																																				0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		5	59	0	0	0	1	0	5	59				
PFKFB1	5207	broad.mit.edu	37	X	54985339	54985339	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54985339G>T	ENST00000375006.3	-	5	474	c.404C>A	c.(403-405)aCt>aAt	p.T135N	PFKFB1_ENST00000374992.2_Missense_Mutation_p.T113N|PFKFB1_ENST00000545676.1_Missense_Mutation_p.T70N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	135	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCTCTGGTAGTGTTGGTGGC	0.453																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(403-405)aCt>aAt		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							245.0	202.0	216.0					X																	54985339		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54985339G>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.404C>A	X.37:g.54985339G>T	ENSP00000364145:p.Thr135Asn					PFKFB1_ENST00000374992.2_Missense_Mutation_p.T113N|PFKFB1_ENST00000545676.1_Missense_Mutation_p.T70N	p.T135N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			5	474	-			135			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.404C>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242308	0.79912	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T	0.42131	0.98	4.38	4.38	0.52667	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	H	0.96547	3.84	0.38264	D	0.941954	P;D;P	0.76494	0.533;0.999;0.61	B;D;B	0.81914	0.364;0.995;0.364	T	0.81547	-0.0883	10	0.30078	T	0.28	-12.2461	15.5568	0.76200	0.0:0.0:1.0:0.0	.	70;113;135	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	N	135;70;113	ENSP00000364131:T113N	ENSP00000364131:T113N	T	-	2	0	PFKFB1	55002064	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.562000	0.98145	2.115000	0.64714	0.594000	0.82650	ACT		0.453	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			7	180	1	0	8.12818e-05	1	8.99451e-05	7	180				
COL6A5	256076	broad.mit.edu	37	3	130159148	130159148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130159148T>C	ENST00000432398.2	+	35	6460	c.5966T>C	c.(5965-5967)gTg>gCg	p.V1989A	COL6A5_ENST00000265379.6_Missense_Mutation_p.V1989A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1989	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAGCTCAGTGATTGACAAC	0.413																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(5965-5967)gTg>gCg		collagen, type VI, alpha 5							102.0	94.0	97.0					3																	130159148		1896	4116	6012	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159148T>C	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5966T>C	3.37:g.130159148T>C	ENSP00000390895:p.Val1989Ala					COL6A5_ENST00000432398.2_Missense_Mutation_p.V1989A	p.V1989A			A8TX70	CO6A5_HUMAN			35	6460	+			1989			Nonhelical region.|VWFA 9.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.5966T>C		.	.	.	.	.	.	.	.	.	.	T	9.515	1.106751	0.20714	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.84944	-1.92;-1.92	5.76	3.32	0.38043	von Willebrand factor, type A (3);	1.414360	0.04735	N	0.421891	T	0.81168	0.4766	L	0.41492	1.28	0.24311	N	0.995081	B;B	0.20052	0.005;0.041	B;B	0.16722	0.011;0.016	T	0.64554	-0.6380	10	0.48119	T	0.1	.	8.6705	0.34147	0.0:0.2222:0.0:0.7778	.	1989;1989	A8TX70;A8TX70-2	CO6A5_HUMAN;.	A	1989	ENSP00000390895:V1989A;ENSP00000265379:V1989A	ENSP00000265379:V1989A	V	+	2	0	COL6A5	131641838	0.005000	0.15991	0.676000	0.29932	0.702000	0.40608	1.410000	0.34691	0.427000	0.26145	0.533000	0.62120	GTG		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		14	15	0	0	0	1	0	14	15				
PHC3	80012	broad.mit.edu	37	3	169820406	169820406	+	Silent	SNP	G	G	A	rs376350771		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169820406G>A	ENST00000494943.1	-	14	2726	c.2658C>T	c.(2656-2658)agC>agT	p.S886S	PHC3_ENST00000467570.1_3'UTR|PHC3_ENST00000495893.2_Silent_p.S898S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	886					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTCCCGCTCGCTCTGCCTGC	0.473																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(2656-2658)agC>agT		polyhomeotic homolog 3 (Drosophila)		G		0,3860		0,0,1930	95.0	88.0	90.0		2694	-3.3	1.0	3		90	3,8265		0,3,4131	no	coding-synonymous	PHC3	NM_024947.3		0,3,6061	AA,AG,GG		0.0363,0.0,0.0247		898/996	169820406	3,12125	1930	4134	6064	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169820406G>A		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2658C>T	3.37:g.169820406G>A						PHC3_ENST00000467570.1_3'UTR|PHC3_ENST00000495893.1_Silent_p.S898S	p.S886S			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		14	2726	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		886					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.2658C>T		.	.	.	.	.	.	.	.	.	.	G	8.307	0.821206	0.16678	0.0	3.63E-4	ENSG00000173889	ENST00000484068	.	.	.	5.12	-3.26	0.05064	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54761	-0.8245	4	.	.	.	-2.4757	11.3772	0.49735	0.5652:0.0:0.4348:0.0	.	.	.	.	V	64	.	.	A	-	2	0	PHC3	171303100	0.940000	0.31905	0.987000	0.45799	0.944000	0.59088	0.077000	0.14738	-0.525000	0.06391	-0.295000	0.09555	GCG		0.473	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		28	50	0	0	0	1	0	28	50				
PKD1	5310	broad.mit.edu	37	16	2153324	2153324	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153324C>T	ENST00000262304.4	-	23	8942	c.8734G>A	c.(8734-8736)Gac>Aac	p.D2912N	PKD1_ENST00000423118.1_Missense_Mutation_p.D2912N|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2912					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGCTGCTGTCCAGGGTGACC	0.697																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8734-8736)Gac>Aac		polycystic kidney disease 1 (autosomal dominant)							22.0	25.0	24.0					16																	2153324		2144	4216	6360	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153324C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8734G>A	16.37:g.2153324C>T	ENSP00000262304:p.Asp2912Asn					PKD1_ENST00000423118.1_Missense_Mutation_p.D2912N	p.D2912N	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8942	-			2912					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8734G>A	CCDS32369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.751|9.751	1.167467|1.167467	0.21621|0.21621	.|.	.|.	ENSG00000008710|ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101|ENST00000382481	T;T|.	0.70749|.	-0.51;-0.51|.	4.89|4.89	2.84|2.84	0.33178|0.33178	.|.	0.427016|.	0.27836|.	N|.	0.017643|.	T|.	0.34019|.	0.0883|.	L|L	0.29908|0.29908	0.895|0.895	0.21220|0.21220	N|N	0.999752|0.999752	B;B|.	0.12013|.	0.005;0.002|.	B;B|.	0.11329|.	0.006;0.002|.	T|.	0.23013|.	-1.0200|.	10|.	0.18710|0.52906	T|T	0.47|0.07	.|.	6.9379|6.9379	0.24476|0.24476	0.0:0.7034:0.1432:0.1534|0.0:0.7034:0.1432:0.1534	.|.	2912;2912|.	P98161-3;P98161|.	.;PKD1_HUMAN|.	N|X	2912;2912;2247|1149	ENSP00000262304:D2912N;ENSP00000399501:D2912N|.	ENSP00000262304:D2912N|ENSP00000371921:W1149X	D|W	-|-	1|3	0|0	PKD1|PKD1	2093325|2093325	0.977000|0.977000	0.34250|0.34250	0.159000|0.159000	0.22649|0.22649	0.525000|0.525000	0.34531|0.34531	2.868000|2.868000	0.48436|0.48436	1.281000|1.281000	0.44480|0.44480	0.555000|0.555000	0.69702|0.69702	GAC|TGG		0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			17	36	0	0	0	1	0	17	36				
POLD2	5425	broad.mit.edu	37	7	44156081	44156081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44156081G>A	ENST00000406581.2	-	8	1458	c.809C>T	c.(808-810)gCa>gTa	p.A270V	POLD2_ENST00000452185.1_Missense_Mutation_p.A270V|POLD2_ENST00000223361.3_Missense_Mutation_p.A270V	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	270					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACGCTGGCTGCCTGGGTTTT	0.592																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(808-810)gCa>gTa		polymerase (DNA directed), delta 2, accessory subunit							58.0	47.0	50.0					7																	44156081		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44156081G>A		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.809C>T	7.37:g.44156081G>A	ENSP00000386105:p.Ala270Val					POLD2_ENST00000452185.1_Missense_Mutation_p.A270V|POLD2_ENST00000223361.3_Missense_Mutation_p.A270V	p.A270V	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			8	1458	-			270					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.809C>T	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091012	0.94149	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436400;ENST00000436844	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.84	5.84	0.93424	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72625	0.978;0.959	T	0.48703	-0.9012	10	0.25751	T	0.34	-25.7854	16.3181	0.82935	0.0:0.1323:0.8677:0.0	.	270;270	P49005;F8W8R3	DPOD2_HUMAN;.	V	270;270;270;10;188	ENSP00000386105:A270V;ENSP00000223361:A270V;ENSP00000395231:A270V;ENSP00000416203:A188V	ENSP00000223361:A270V	A	-	2	0	POLD2	44122606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.447000	0.66606	2.778000	0.95560	0.655000	0.94253	GCA		0.592	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		7	9	0	0	0	1	0	7	9				
DACH2	117154	broad.mit.edu	37	X	85769296	85769296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85769296G>T	ENST00000373125.4	+	3	542	c.542G>T	c.(541-543)aGg>aTg	p.R181M	DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373131.1_Missense_Mutation_p.R168M|DACH2_ENST00000508860.1_Missense_Mutation_p.R14M	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	181					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGACCCGGCAGGCCCCCTAAG	0.438																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(502-504)aGg>aTg		dachshund homolog 2 (Drosophila)							37.0	33.0	35.0					X																	85769296		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85769296G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.542G>T	X.37:g.85769296G>T	ENSP00000362217:p.Arg181Met					DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.R14M|DACH2_ENST00000373125.4_Missense_Mutation_p.R181M	p.R168M	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			2	666	+			181					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.503G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489086	0.64074	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	D;D	0.86956	-2.19;-2.05	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.93366	0.6731	10	0.72032	D	0.01	.	17.223	0.86962	0.0:0.0:1.0:0.0	.	47;168;181	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	M	181;168;181;14;14	ENSP00000362223:R168M;ENSP00000362217:R181M	ENSP00000345134:R181M	R	+	2	0	DACH2	85655952	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.572000	0.74005	1.988000	0.58038	0.506000	0.49869	AGG		0.438	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		4	17	1	0	0.217242	1	0.218821	4	17				
TEK	7010	broad.mit.edu	37	9	27157963	27157963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27157963G>A	ENST00000380036.4	+	2	629	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.A63T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	63	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGACTTTGAAGCCTTAATGAA	0.478																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(187-189)Gcc>Acc		TEK tyrosine kinase, endothelial							113.0	106.0	109.0					9																	27157963		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27157963G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.187G>A	9.37:g.27157963G>A	ENSP00000369375:p.Ala63Thr					TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.A63T	p.A63T	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	629	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	63			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.187G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102726	0.37145	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73469	-0.73;-0.75	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.128568	0.34986	N	0.003539	T	0.52141	0.1716	N	0.08118	0	0.33458	D	0.584518	B;B;B;B	0.32128	0.069;0.357;0.149;0.163	B;B;B;B	0.29077	0.033;0.098;0.079;0.033	T	0.59958	-0.7356	10	0.12766	T	0.61	.	13.5336	0.61635	0.0709:0.0:0.9291:0.0	.	96;63;63;63	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	T	63	ENSP00000369375:A63T;ENSP00000383977:A63T	ENSP00000343716:A63T	A	+	1	0	TEK	27147963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.026000	0.64103	2.798000	0.96311	0.655000	0.94253	GCC		0.478	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			26	36	0	0	0	1	0	26	36				
UNC5D	137970	broad.mit.edu	37	8	35541169	35541169	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35541169C>T	ENST00000404895.2	+	5	1003	c.675C>T	c.(673-675)gaC>gaT	p.D225D	UNC5D_ENST00000453357.2_Silent_p.D220D|UNC5D_ENST00000416672.1_Silent_p.D225D|UNC5D_ENST00000287272.2_Silent_p.D225D|UNC5D_ENST00000420357.1_Silent_p.D225D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	225	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCTCTCGGACTCAGGAAATT	0.517																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(673-675)gaC>gaT		unc-5 homolog D (C. elegans)							92.0	77.0	82.0					8																	35541169		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541169C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.675C>T	8.37:g.35541169C>T						UNC5D_ENST00000416672.1_Silent_p.D225D|UNC5D_ENST00000453357.2_Silent_p.D220D|UNC5D_ENST00000404895.2_Silent_p.D225D|UNC5D_ENST00000420357.1_Silent_p.D225D	p.D225D			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	695	+			225			Ig-like C2-type.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.675C>T	CCDS6093.2																																																																																				0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			14	27	0	0	0	1	0	14	27				
BAGE2	85319	broad.mit.edu	37	21	11038775	11038775	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038775C>A	ENST00000470054.1	-	0	1428							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGTAATAGCTGGTTTACCC	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038775C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038775C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1428	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		19	232	1	0	1.15919e-05	1	1.31461e-05	19	232				
CLN8	2055	broad.mit.edu	37	8	1728703	1728703	+	Silent	SNP	C	C	T	rs200083273		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1728703C>T	ENST00000331222.4	+	3	1078	c.831C>T	c.(829-831)aaC>aaT	p.N277N	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	277					adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CAGAAGGCAACGGGCAGCTGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15224	0.001		0.0	False		,,,				2504	0.0				Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(829-831)aaC>aaT		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)							69.0	76.0	74.0					8																	1728703		2203	4300	6503	SO:0001819	synonymous_variant	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728703C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.831C>T	8.37:g.1728703C>T						CLN8_ENST00000523237.1_3'UTR	p.N277N	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	1078	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	277					Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	c.831C>T	CCDS5956.1																																																																																				0.592	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		31	66	0	0	0	1	0	31	66				
CDC73	79577	broad.mit.edu	37	1	193181591	193181591	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193181591C>A	ENST00000367435.3	+	13	1322	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	380	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCAAAAGACCTTCTACAGGA	0.328																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(1138-1140)Ctt>Att		cell division cycle 73							125.0	139.0	135.0					1																	193181591		2203	4299	6502	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193181591C>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1138C>A	1.37:g.193181591C>A	ENSP00000356405:p.Leu380Ile						p.L380I	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			13	1322	+			380					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.1138C>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	9.983	1.228787	0.22542	.	.	ENSG00000134371	ENST00000367435	T	0.63580	-0.05	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	N	0.04669	-0.19	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.34502	-0.9826	10	0.15066	T	0.55	-14.0523	19.918	0.97070	0.0:1.0:0.0:0.0	.	380	Q6P1J9	CDC73_HUMAN	I	380	ENSP00000356405:L380I	ENSP00000356405:L380I	L	+	1	0	CDC73	191448214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.865000	0.75500	2.714000	0.92807	0.650000	0.86243	CTT		0.328	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		9	207	1	0	2.17888e-05	1	2.45068e-05	9	207				
NLRP5	126206	broad.mit.edu	37	19	56544907	56544907	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56544907G>T	ENST00000390649.3	+	9	2447		c.e9-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5						cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCATTGCAGGTTTAGAAAT	0.478																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.e9-1		NLR family, pyrin domain containing 5							159.0	158.0	158.0					19																	56544907		1966	4175	6141	SO:0001630	splice_region_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56544907G>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2448-1G>T	19.37:g.56544907G>T								NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	9	2447	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)						A8MTY4|Q86W29	Splice_Site	SNP	ENST00000390649.3	37		CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790488	0.16258	.	.	ENSG00000171487	ENST00000390649	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.46798	D	0.999202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8689	0.41162	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP5	61236719	0.018000	0.18449	0.016000	0.15963	0.002000	0.02628	1.444000	0.35068	2.026000	0.59711	0.650000	0.86243	.		0.478	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	Intron	7	96	1	0	0.0293803	1	0.0301098	7	96				
MROH7	374977	broad.mit.edu	37	1	55119694	55119694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55119694C>T	ENST00000421030.2	+	3	1380	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Silent_p.I365I|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Silent_p.I365I|MROH7_ENST00000409996.1_Intron|MROH7-TTC4_ENST00000414150.2_Silent_p.I365I	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	365						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.I365I(2)									ACAACAGCATCCACACTGTGC	0.582																																						ENST00000414150.2																			2	Substitution - coding silent(2)	p.I365I(2)	lung(2)								c.(1093-1095)atC>atT		maestro heat-like repeat family member 7							74.0	74.0	74.0					1																	55119694		2113	4230	6343	SO:0001819	synonymous_variant	374977							g.chr1:55119694C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1095C>T	1.37:g.55119694C>T						MROH7_ENST00000395690.2_Silent_p.I365I|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Silent_p.I365I|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Silent_p.I365I	p.I365I							3	1373	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1095C>T	CCDS41342.2																																																																																				0.582	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		18	24	0	0	0	1	0	18	24				
TRIM40	135644	broad.mit.edu	37	6	30114957	30114957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30114957G>A	ENST00000396581.1	+	4	1023	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	TRIM40_ENST00000376724.2_Missense_Mutation_p.A213T|TRIM40_ENST00000307859.4_Missense_Mutation_p.A184T			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	213					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						GGAAAGGACGGCCAAGGAATT	0.572																																						ENST00000396581.1																			0				ovary(1)	1						c.(637-639)Gcc>Acc		tripartite motif containing 40							134.0	113.0	120.0					6																	30114957		2203	4300	6503	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30114957G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.637G>A	6.37:g.30114957G>A	ENSP00000379826:p.Ala213Thr					TRIM40_ENST00000307859.4_Missense_Mutation_p.A184T|TRIM40_ENST00000376724.2_Missense_Mutation_p.A213T	p.A213T			Q6P9F5	TRI40_HUMAN			4	1023	+			213					Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.637G>A		.	.	.	.	.	.	.	.	.	.	G	15.20	2.764193	0.49574	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	T;T;T	0.67345	-0.03;-0.03;-0.26	4.34	-4.54	0.03452	.	1.399780	0.04790	N	0.431541	T	0.39600	0.1084	M	0.72479	2.2	0.09310	N	1	P;P	0.43094	0.734;0.799	B;B	0.40329	0.326;0.255	T	0.39502	-0.9611	10	0.27082	T	0.32	.	4.2961	0.10902	0.2695:0.0:0.2039:0.5267	.	184;213	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	T	213;213;184	ENSP00000379826:A213T;ENSP00000365914:A213T;ENSP00000308310:A184T	ENSP00000308310:A184T	A	+	1	0	TRIM40	30222936	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	0.246000	0.18160	-0.708000	0.05015	0.453000	0.30009	GCC		0.572	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			8	86	0	0	0	1	0	8	86				
APOE	348	broad.mit.edu	37	19	45411875	45411875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45411875C>T	ENST00000252486.4	+	4	433	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	108	8 X 22 AA approximate tandem repeats.				aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGAGACGCGGGCACGGCT	0.687																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(322-324)Cgg>Tgg		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						27.0	22.0	24.0					19																	45411875		2198	4300	6498	SO:0001583	missense	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411875C>T	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.322C>T	19.37:g.45411875C>T	ENSP00000252486:p.Arg108Trp						p.R108W	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	433	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	108			8 X 22 AA approximate tandem repeats.		B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	c.322C>T	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022726	0.54683	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.74209	-0.82;-0.82;-0.82	5.36	3.12	0.35913	Apolipoprotein/apolipophorin (1);	1.065020	0.07337	N	0.880042	D	0.83036	0.5167	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.72625	0.978	T	0.68398	-0.5419	10	0.66056	D	0.02	-15.4981	12.0758	0.53643	0.313:0.6869:0.0:0.0	.	108	P02649	APOE_HUMAN	W	108;108;153;108	ENSP00000252486:R108W;ENSP00000413135:R108W;ENSP00000410423:R108W	ENSP00000252486:R108W	R	+	1	2	APOE	50103715	0.003000	0.15002	0.005000	0.12908	0.575000	0.36095	0.607000	0.24209	0.573000	0.29400	0.561000	0.74099	CGG		0.687	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		5	6	0	0	0	1	0	5	6				
TALDO1	6888	broad.mit.edu	37	11	755902	755902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:755902G>A	ENST00000319006.3	+	2	274	c.121G>A	c.(121-123)Gat>Aat	p.D41N	TALDO1_ENST00000528097.1_Missense_Mutation_p.D41N			P37837	TALDO_HUMAN	transaldolase 1	41					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CAAGCCCCAGGATGCTACCAC	0.552																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(121-123)Gat>Aat		transaldolase 1							88.0	78.0	81.0					11																	755902		2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:755902G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.121G>A	11.37:g.755902G>A	ENSP00000321259:p.Asp41Asn					TALDO1_ENST00000528097.1_Missense_Mutation_p.D41N	p.D41N			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	2	274	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	41					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.121G>A	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017525	0.93404	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.87179	-2.22;-2.22	4.29	4.29	0.51040	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98417	1.0575	10	0.87932	D	0	-2.8676	15.9034	0.79400	0.0:0.0:1.0:0.0	.	41;41	F2Z393;P37837	.;TALDO_HUMAN	N	41	ENSP00000321259:D41N;ENSP00000437098:D41N	ENSP00000321259:D41N	D	+	1	0	TALDO1	745902	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.158000	0.94723	2.119000	0.64992	0.313000	0.20887	GAT		0.552	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		7	39	0	0	0	1	0	7	39				
CPSF4	10898	broad.mit.edu	37	7	99051747	99051747	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99051747C>T	ENST00000292476.5	+	7	739	c.729C>T	c.(727-729)gtC>gtT	p.V243V	CPSF4_ENST00000451876.1_Silent_p.V185V|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Silent_p.V218V|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000441580.1_Silent_p.V165V|PTCD1_ENST00000555673.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	243					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAGCAGGTCACCTGTTACA	0.602																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(652-654)gtC>gtT		cleavage and polyadenylation specific factor 4, 30kDa							34.0	44.0	41.0					7																	99051747		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051747C>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.729C>T	7.37:g.99051747C>T						CPSF4_ENST00000441580.1_Silent_p.V165V|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.V185V|CPSF4_ENST00000292476.5_Silent_p.V243V|PTCD1_ENST00000555673.1_Intron	p.V218V	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			7	815	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		243					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.654C>T	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.25|16.25	3.070127|3.070127	0.55539|0.55539	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000452047	.|T	.|0.35605	.|1.3	5.67|5.67	4.79|4.79	0.61399|0.61399	.|.	.|.	.|.	.|.	.|.	T|T	0.38852|0.38852	0.1056|0.1056	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.11591|0.11591	-1.0581|-1.0581	4|6	.|0.23302	.|T	.|0.38	-17.9905|-17.9905	10.7235|10.7235	0.46055|0.46055	0.0:0.8549:0.0:0.1451|0.0:0.8549:0.0:0.1451	.|.	.|.	.|.	.|.	Y|L	125|154	.|ENSP00000392584:S154L	.|ENSP00000392584:S154L	H|S	+|+	1|2	0|0	CPSF4|CPSF4	98889683|98889683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.411000|3.411000	0.52672|0.52672	1.417000|1.417000	0.47077|0.47077	-0.136000|-0.136000	0.14681|0.14681	CAC|TCA		0.602	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			20	64	0	0	0	1	0	20	64				
GALNT13	114805	broad.mit.edu	37	2	155307045	155307045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155307045C>T	ENST00000392825.3	+	13	2220	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	551					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCTAAGGAACATGACCTTGG	0.428																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(1651-1653)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							82.0	69.0	74.0					2																	155307045		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155307045C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1653C>T	2.37:g.155307045C>T						GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	p.N551N	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			13	2220	+			551					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.1653C>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018367	0.19355	.	.	ENSG00000144278	ENST00000450838	.	.	.	5.96	2.18	0.27775	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50154	-0.8861	4	.	.	.	.	8.4709	0.32984	0.0:0.6171:0.0:0.3829	.	.	.	.	Y	137	.	.	H	+	1	0	GALNT13	155015291	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.400000	0.52594	0.426000	0.26116	0.655000	0.94253	CAT		0.428	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		5	27	0	0	0	1	0	5	27				
IRF7	3665	broad.mit.edu	37	11	613580	613580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:613580G>A	ENST00000397574.2	-	9	1232	c.863C>T	c.(862-864)gCg>gTg	p.A288V	IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000330243.5_Missense_Mutation_p.A301V|IRF7_ENST00000525445.1_Missense_Mutation_p.A182V|IRF7_ENST00000397570.1_Missense_Mutation_p.A259V|IRF7_ENST00000348655.6_Missense_Mutation_p.A259V|IRF7_ENST00000397566.1_Missense_Mutation_p.A301V	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	288					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGTCCAGCGCCCCTGGGCT	0.667																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(901-903)gCg>gTg		interferon regulatory factor 7							10.0	12.0	12.0					11																	613580		2013	4083	6096	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613580G>A	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.863C>T	11.37:g.613580G>A	ENSP00000380704:p.Ala288Val					IRF7_ENST00000330243.5_Missense_Mutation_p.A301V|IRF7_ENST00000397570.1_Missense_Mutation_p.A259V|IRF7_ENST00000397574.2_Missense_Mutation_p.A288V|IRF7_ENST00000348655.6_Missense_Mutation_p.A259V|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000525445.1_Missense_Mutation_p.A182V	p.A301V	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1311	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	288					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.902C>T	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156589	0.38119	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	3.91	-4.31	0.03698	SMAD domain-like (1);Interferon regulatory factor-3 (1);	1.822440	0.03242	N	0.180543	T	0.81616	0.4860	N	0.08118	0	0.09310	N	1	B;B;B;B	0.13145	0.007;0.001;0.006;0.006	B;B;B;B	0.10450	0.005;0.002;0.005;0.001	T	0.70710	-0.4797	10	0.27785	T	0.31	-2.6496	1.2602	0.02000	0.4527:0.1179:0.1904:0.239	.	182;259;288;301	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	V	182;259;259;301;288;301	ENSP00000434009:A182V;ENSP00000331803:A259V;ENSP00000380700:A259V;ENSP00000380697:A301V;ENSP00000380704:A288V;ENSP00000329411:A301V	ENSP00000329411:A301V	A	-	2	0	IRF7	603580	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-1.344000	0.02639	-0.567000	0.06046	-0.658000	0.03865	GCG		0.667	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		9	7	0	0	0	1	0	9	7				
TBC1D12	23232	broad.mit.edu	37	10	96234514	96234514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96234514T>C	ENST00000225235.4	+	3	1295	c.1185T>C	c.(1183-1185)acT>acC	p.T395T		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	395							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTCTACCACTGCCTTGATTC	0.353																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(1183-1185)acT>acC		TBC1 domain family, member 12							122.0	115.0	117.0					10																	96234514		1862	4099	5961	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96234514T>C	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1185T>C	10.37:g.96234514T>C							p.T395T	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			3	1295	+		Colorectal(252;0.0429)	395					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.1185T>C	CCDS41553.1																																																																																				0.353	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			5	66	0	0	0	1	0	5	66				
COL4A5	1287	broad.mit.edu	37	X	107936010	107936010	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107936010A>G	ENST00000361603.2	+	48	4787	c.4543A>G	c.(4543-4545)Acc>Gcc	p.T1515A	COL4A5_ENST00000328300.6_Missense_Mutation_p.T1521A	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1515	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCGCTTTAGTACCATGCCTTT	0.428									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4561-4563)Acc>Gcc		collagen, type IV, alpha 5							126.0	98.0	107.0					X																	107936010		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107936010A>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4543A>G	X.37:g.107936010A>G	ENSP00000354505:p.Thr1515Ala					COL4A5_ENST00000361603.2_Missense_Mutation_p.T1515A	p.T1521A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			50	4805	+			1515			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4561A>G	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708076	0.89018	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94046	-3.34;-3.34	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	L	0.56124	1.755	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.95956	0.8958	10	0.72032	D	0.01	.	15.1639	0.72807	1.0:0.0:0.0:0.0	.	1518;1515	E7EVY4;P29400	.;CO4A5_HUMAN	A	1521;1515;1521	ENSP00000331902:T1521A;ENSP00000354505:T1515A	ENSP00000331902:T1521A	T	+	1	0	COL4A5	107822666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.213000	0.72194	1.964000	0.57103	0.481000	0.45027	ACC		0.428	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			3	74	0	0	0	1	0	3	74				
CASKIN1	57524	broad.mit.edu	37	16	2229990	2229990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2229990G>A	ENST00000343516.6	-	18	3471	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1127	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCGGATGCGCCTCTTGAGT	0.682																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(3379-3381)Cgc>Tgc		CASK interacting protein 1							15.0	17.0	16.0					16																	2229990		2011	4155	6166	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2229990G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.3379C>T	16.37:g.2229990G>A	ENSP00000345436:p.Arg1127Cys						p.R1127C	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			18	3471	-			1127			Pro-rich.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.3379C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428790	0.25726	.	.	ENSG00000167971	ENST00000343516	T	0.72394	-0.65	3.69	2.71	0.32032	.	.	.	.	.	T	0.74344	0.3704	L	0.47716	1.5	0.51767	D	0.999937	D	0.89917	1.0	D	0.64410	0.925	T	0.72846	-0.4169	9	0.62326	D	0.03	-15.3065	7.6583	0.28388	0.0:0.1816:0.6309:0.1875	.	1127	Q8WXD9	CSKI1_HUMAN	C	1127	ENSP00000345436:R1127C	ENSP00000345436:R1127C	R	-	1	0	CASKIN1	2169991	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.312000	0.33574	0.714000	0.32081	0.205000	0.17691	CGC		0.682	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	8	0	0	0	1	0	3	8				
GIMAP6	474344	broad.mit.edu	37	7	150325355	150325355	+	Missense_Mutation	SNP	C	C	T	rs375860624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150325355C>T	ENST00000328902.5	-	3	547	c.331G>A	c.(331-333)Gct>Act	p.A111T	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R36H	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	111	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGATAGCGTCTGCCACC	0.627																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(331-333)Gct>Act		GTPase, IMAP family member 6							57.0	59.0	59.0					7																	150325355		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325355C>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.331G>A	7.37:g.150325355C>T	ENSP00000330374:p.Ala111Thr					GIMAP6_ENST00000493969.1_Missense_Mutation_p.R36H	p.A111T	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	547	-			111					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.331G>A	CCDS34778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.010|8.010	0.757285|0.757285	0.15846|0.15846	.|.	.|.	ENSG00000133561|ENSG00000133561	ENST00000328902;ENST00000392862|ENST00000493969	T|.	0.05580|.	3.42|.	3.84|3.84	-0.504|-0.504	0.11997|0.11997	AIG1 (1);|.	0.972711|.	0.08449|.	N|.	0.944144|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.41124|0.41124	1.26|1.26	0.09310|0.09310	N|N	1|1	B;P|.	0.51791|.	0.15;0.948|.	B;B|.	0.34418|.	0.067;0.182|.	T|T	0.35450|0.35450	-0.9788|-0.9788	10|6	0.87932|0.62326	D|D	0|0.03	.|.	6.0763|6.0763	0.19917|0.19917	0.0:0.2142:0.5065:0.2793|0.0:0.2142:0.5065:0.2793	.|.	111;31|.	Q6P9H5;Q6P9H5-2|.	GIMA6_HUMAN;.|.	T|H	111;172|36	ENSP00000330374:A111T|.	ENSP00000330374:A111T|ENSP00000418304:R36H	A|R	-|-	1|2	0|0	GIMAP6|GIMAP6	149956288|149956288	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.477000|0.477000	0.22196|0.22196	-0.338000|-0.338000	0.08413|0.08413	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.627	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		6	98	0	0	0	1	0	6	98				
RFC4	5984	broad.mit.edu	37	3	186522416	186522416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522416G>A	ENST00000392481.2	-	2	368	c.87C>T	c.(85-87)agC>agT	p.S29S	RFC4_ENST00000296273.2_Silent_p.S29S|RFC4_ENST00000433496.1_Silent_p.S29S	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	29					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGTTCTCTCCGCTACTTCCCG	0.438																																						ENST00000392481.2																			0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(85-87)agC>agT		replication factor C (activator 1) 4, 37kDa							168.0	155.0	160.0					3																	186522416		2203	4300	6503	SO:0001819	synonymous_variant	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186522416G>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.87C>T	3.37:g.186522416G>A						RFC4_ENST00000433496.1_Silent_p.S29S|RFC4_ENST00000296273.2_Silent_p.S29S	p.S29S	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	2	368	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		29					B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	c.87C>T	CCDS3283.1																																																																																				0.438	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		73	85	0	0	0	1	0	73	85				
ARHGEF9	23229	broad.mit.edu	37	X	62875507	62875507	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:62875507C>A	ENST00000253401.6	-	8	1967	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	ARHGEF9_ENST00000433323.2_Missense_Mutation_p.K116N|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K336N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K287N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K368N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K387N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	389	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAAAGGCATTCTTCATGCTGA	0.443																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1165-1167)aaG>aaT		Cdc42 guanine nucleotide exchange factor (GEF) 9							210.0	170.0	184.0					X																	62875507		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62875507C>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1167G>T	X.37:g.62875507C>A	ENSP00000253401:p.Lys389Asn					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K287N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K368N|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K336N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K387N|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.K116N	p.K389N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			8	1967	-			389			PH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1167G>T	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533088	0.64972	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.54	0.921	0.19403	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92397	0.7587	M	0.77820	2.39	0.53005	D	0.999967	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.68039	0.955;0.939;0.939;0.939	D	0.90443	0.4433	10	0.54805	T	0.06	.	10.0145	0.42006	0.0:0.6065:0.0:0.3935	.	336;387;389;389	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	N	389;387;336;287;116;368	ENSP00000253401:K389N;ENSP00000364012:K387N;ENSP00000399994:K336N;ENSP00000364004:K287N;ENSP00000404478:K116N;ENSP00000364006:K368N	ENSP00000253401:K389N	K	-	3	2	ARHGEF9	62792232	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.921000	0.48852	0.104000	0.17725	0.436000	0.28706	AAG		0.443	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			66	98	1	0	1.17253e-29	1	1.56951e-29	66	98				
CYP27C1	339761	broad.mit.edu	37	2	127944964	127944964	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944964C>A	ENST00000335247.7	-	8	1133		c.e8-1		CYP27C1_ENST00000409327.1_Splice_Site	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1							membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTGAAGCAACTAAGAAGAGA	0.498																																						ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.e8-1		cytochrome P450, family 27, subfamily C, polypeptide 1							65.0	67.0	66.0					2																	127944964		2203	4300	6503	SO:0001630	splice_region_variant	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127944964C>A	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.1003-1G>T	2.37:g.127944964C>A						CYP27C1_ENST00000409327.1_Splice_Site		NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	8	1133	-	Colorectal(110;0.1)							Q6ZNI7	Splice_Site	SNP	ENST00000335247.7	37		CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364277	0.61513	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0722	0.89413	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP27C1	127661434	1.000000	0.71417	0.904000	0.35570	0.593000	0.36681	6.140000	0.71738	2.277000	0.76020	0.655000	0.94253	.		0.498	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	Intron	18	29	1	0	6.94344e-10	1	8.49476e-10	18	29				
ROPN1B	152015	broad.mit.edu	37	3	125694466	125694466	+	Silent	SNP	C	C	T	rs541348602		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125694466C>T	ENST00000514116.1	+	4	492	c.177C>T	c.(175-177)gtC>gtT	p.V59V	ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Silent_p.V59V|ROPN1B_ENST00000511082.1_5'Flank			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	59					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CTGAGCGAGTCGCTTTGTGTA	0.512													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20614	0.0		0.0	False		,,,				2504	0.0					ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(175-177)gtC>gtT		rhophilin associated tail protein 1B							109.0	98.0	102.0					3																	125694466		2203	4300	6503	SO:0001819	synonymous_variant	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125694466C>T	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.177C>T	3.37:g.125694466C>T						ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_Intron|ROPN1B_ENST00000251776.4_Silent_p.V59V	p.V59V			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	492	+			59					D3DNA6|Q96BM7	Silent	SNP	ENST00000514116.1	37	c.177C>T	CCDS33841.1																																																																																				0.512	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		23	36	0	0	0	1	0	23	36				
IL12RB2	3595	broad.mit.edu	37	1	67786068	67786068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67786068G>A	ENST00000262345.1	+	2	657	c.17G>A	c.(16-18)aGa>aAa	p.R6K	IL12RB2_ENST00000544434.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R6K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	6					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CATACTTTTAGAGGATGCTCA	0.328																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(16-18)aGa>aAa		interleukin 12 receptor, beta 2							188.0	184.0	185.0					1																	67786068		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67786068G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.17G>A	1.37:g.67786068G>A	ENSP00000262345:p.Arg6Lys					IL12RB2_ENST00000544434.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R6K	p.R6K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			2	657	+			6					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.17G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	5.310	0.242506	0.10077	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.42131	0.98;1.07;1.07;1.95	5.13	3.25	0.37280	.	0.689742	0.14883	N	0.292857	T	0.08802	0.0218	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.40834	0.118;0.73;0.187;0.421	B;B;B;B	0.41202	0.05;0.35;0.109;0.146	T	0.23797	-1.0178	10	0.02654	T	1	-0.2446	8.2107	0.31481	0.1867:0.0:0.8133:0.0	.	6;6;6;6	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	K	6	ENSP00000262345:R6K;ENSP00000360039:R6K;ENSP00000445276:R6K;ENSP00000442443:R6K	ENSP00000262345:R6K	R	+	2	0	IL12RB2	67558656	0.009000	0.17119	0.001000	0.08648	0.015000	0.08874	1.509000	0.35780	0.552000	0.29026	-0.259000	0.10710	AGA		0.328	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		45	67	0	0	0	1	0	45	67				
MMP15	4324	broad.mit.edu	37	16	58075737	58075737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58075737C>T	ENST00000219271.3	+	6	1912	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	376					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	GACTTTGACACAGTGGCCATG	0.677																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1126-1128)aCa>aTa		matrix metallopeptidase 15 (membrane-inserted)							54.0	56.0	55.0					16																	58075737		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58075737C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1127C>T	16.37:g.58075737C>T	ENSP00000219271:p.Thr376Ile						p.T376I	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			6	1912	+			376			Hemopexin-like 1.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1127C>T	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055114	0.93793	.	.	ENSG00000102996	ENST00000219271	T	0.02552	4.25	5.03	5.03	0.67393	Hemopexin/matrixin (2);	0.054218	0.64402	D	0.000001	T	0.19967	0.0480	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01661	-1.1301	10	0.62326	D	0.03	.	17.3717	0.87380	0.0:1.0:0.0:0.0	.	376	P51511	MMP15_HUMAN	I	376	ENSP00000219271:T376I	ENSP00000219271:T376I	T	+	2	0	MMP15	56633238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.760000	0.85248	2.347000	0.79759	0.491000	0.48974	ACA		0.677	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		6	17	0	0	0	1	0	6	17				
PELP1	27043	broad.mit.edu	37	17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4579733C>T	ENST00000574876.1	-	7	789	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000301396.4_Missense_Mutation_p.E258K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(772-774)Gag>Aag		proline, glutamate and leucine rich protein 1							41.0	44.0	43.0					17																	4579733		1977	4153	6130	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4579733C>T		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.772G>A	17.37:g.4579733C>T	ENSP00000461625:p.Glu258Lys					AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K|PELP1_ENST00000574876.1_Missense_Mutation_p.E258K	p.E258K			Q8IZL8	PELP1_HUMAN			7	997	-			258					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.772G>A	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049728	0.19827	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.66460	0.76;-0.21;1.39	5.31	4.33	0.51752	.	0.190261	0.43416	D	0.000566	T	0.51958	0.1705	L	0.50333	1.59	0.31718	N	0.638708	P;P	0.41710	0.76;0.76	B;B	0.22152	0.038;0.038	T	0.62201	-0.6904	10	0.32370	T	0.25	-7.6358	13.1228	0.59336	0.1613:0.8387:0.0:0.0	.	111;258	E7EV54;Q8IZL8	.;PELP1_HUMAN	K	258;258;111	ENSP00000301396:E258K;ENSP00000269230:E258K;ENSP00000416231:E111K	ENSP00000269230:E258K	E	-	1	0	AC091153.1	4526482	1.000000	0.71417	0.885000	0.34714	0.002000	0.02628	6.010000	0.70753	1.464000	0.47987	-0.187000	0.12897	GAG		0.607	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		30	43	0	0	0	1	0	30	43				
SF3B3	23450	broad.mit.edu	37	16	70572290	70572290	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70572290C>T	ENST00000302516.5	+	7	1101	c.890C>T	c.(889-891)tCg>tTg	p.S297L	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	297					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAAACCAAATCGATGTTCTTC	0.388																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(889-891)tCg>tTg		splicing factor 3b, subunit 3, 130kDa							196.0	178.0	184.0					16																	70572290		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70572290C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.890C>T	16.37:g.70572290C>T	ENSP00000305790:p.Ser297Leu						p.S297L	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			7	1101	+		Ovarian(137;0.0694)	297					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.890C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235275	0.79800	.	.	ENSG00000189091	ENST00000302516	T	0.47528	0.84	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.51422	1.61	0.80722	D	1	B	0.15719	0.014	B	0.16289	0.015	T	0.41963	-0.9479	10	0.62326	D	0.03	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	297	Q15393	SF3B3_HUMAN	L	297	ENSP00000305790:S297L	ENSP00000305790:S297L	S	+	2	0	SF3B3	69129791	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.810000	0.86072	2.557000	0.86248	0.655000	0.94253	TCG		0.388	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		78	82	0	0	0	1	0	78	82				
KMT2E	55904	broad.mit.edu	37	7	104753353	104753353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104753353C>A	ENST00000311117.3	+	27	5695	c.5150C>A	c.(5149-5151)cCa>cAa	p.P1717Q	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.P1675Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1717Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1717	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCACCCCCACCACCCCCTCCG	0.557																																						ENST00000334877.4																			0											c.(5023-5025)cCa>cAa		lysine (K)-specific methyltransferase 2E							126.0	114.0	118.0					7																	104753353		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104753353C>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5150C>A	7.37:g.104753353C>A	ENSP00000312379:p.Pro1717Gln					SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.P1717Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1717Q	p.P1675Q							26	5558	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.5024C>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	c	8.590	0.884259	0.17467	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.95853	-3.7;-3.83;-3.7	3.79	2.88	0.33553	.	0.000000	0.41938	D	0.000789	D	0.94258	0.8156	N	0.19112	0.55	0.44570	D	0.997536	D;D	0.89917	0.996;1.0	P;D	0.80764	0.907;0.994	D	0.92608	0.6097	10	0.36615	T	0.2	.	10.9156	0.47135	0.0:0.9057:0.0:0.0943	.	1637;1717	F8W6H1;Q8IZD2	.;MLL5_HUMAN	Q	1717;1675;1637;1717	ENSP00000312379:P1717Q;ENSP00000335599:P1675Q;ENSP00000257745:P1717Q	ENSP00000257745:P1717Q	P	+	2	0	MLL5	104540589	0.764000	0.28473	0.035000	0.18076	0.982000	0.71751	3.210000	0.51129	1.850000	0.53721	0.454000	0.30748	CCA		0.557	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			29	18	1	0	1.32003e-05	1	1.49129e-05	29	18				
CSDE1	7812	broad.mit.edu	37	1	115267900	115267900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267900G>A	ENST00000358528.4	-	15	2121	c.1695C>T	c.(1693-1695)agC>agT	p.S565S	CSDE1_ENST00000438362.2_Silent_p.S611S|CSDE1_ENST00000261443.5_Silent_p.S534S|CSDE1_ENST00000339438.6_Silent_p.S534S|CSDE1_ENST00000534699.1_Silent_p.S565S|CSDE1_ENST00000530886.1_Silent_p.S435S|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000369530.1_Silent_p.S580S	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	565	CSD 7.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTGGACAAGCTATACTCGA	0.393																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1831-1833)agC>agT		cold shock domain containing E1, RNA-binding							247.0	218.0	228.0					1																	115267900		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115267900G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1695C>T	1.37:g.115267900G>A						CSDE1_ENST00000530886.1_Silent_p.S435S|CSDE1_ENST00000369530.1_Silent_p.S580S|CSDE1_ENST00000358528.4_Silent_p.S565S|CSDE1_ENST00000261443.5_Silent_p.S534S|CSDE1_ENST00000534699.1_Silent_p.S565S|CSDE1_ENST00000339438.6_Silent_p.S534S	p.S611S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2211	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	565			CSD 8.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.1833C>T	CCDS30812.1																																																																																				0.393	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		36	97	0	0	0	1	0	36	97				
RAPGEF4	11069	broad.mit.edu	37	2	173825907	173825907	+	Nonsense_Mutation	SNP	C	C	T	rs369838179		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173825907C>T	ENST00000397081.3	+	8	792	c.649C>T	c.(649-651)Cga>Tga	p.R217*	RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.R46*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.R217*|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000264111.6_Nonsense_Mutation_p.R216*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.R73*	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	217	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CATTCTCTCTCGAGCACCTCA	0.433																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(646-648)Cga>Tga		Rap guanine nucleotide exchange factor (GEF) 4		C	stop/ARG,stop/ARG	2,3716		0,2,1857	140.0	139.0	139.0		217,649	4.9	1.0	2		139	0,8178		0,0,4089	no	stop-gained,stop-gained	RAPGEF4	NM_001100397.1,NM_007023.3	,	0,2,5946	TT,TC,CC		0.0,0.0538,0.0168	,	73/868,217/1012	173825907	2,11894	1859	4089	5948	SO:0001587	stop_gained	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173825907C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.649C>T	2.37:g.173825907C>T	ENSP00000380271:p.Arg217*					RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.R217*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.R217*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.R73*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.R46*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.R64*	p.R216*			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		8	833	+			217			DEP.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Nonsense_Mutation	SNP	ENST00000397081.3	37	c.646C>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	38	7.174950	0.98114	5.38E-4	0.0	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767	.	.	.	5.79	4.88	0.63580	.	0.351071	0.29806	N	0.011151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2487	0.82472	0.1332:0.8668:0.0:0.0	.	.	.	.	X	216;217;217;73;46;64;64;44	.	ENSP00000264111:R216X	R	+	1	2	RAPGEF4	173534153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.833000	0.27504	2.733000	0.93635	0.655000	0.94253	CGA		0.433	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		37	48	0	0	0	1	0	37	48				
LAMP3	27074	broad.mit.edu	37	3	182853553	182853553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182853553C>T	ENST00000265598.3	-	5	1324	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	LAMP3_ENST00000466939.1_Missense_Mutation_p.D333N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	357					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.D357N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGTTGGACATCGGTTGTTTTC	0.488																																						ENST00000265598.3																			1	Substitution - Missense(1)	p.D357N(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(1069-1071)Gat>Aat		lysosomal-associated membrane protein 3							219.0	210.0	213.0					3																	182853553		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182853553C>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1069G>A	3.37:g.182853553C>T	ENSP00000265598:p.Asp357Asn					LAMP3_ENST00000466939.1_Missense_Mutation_p.D333N	p.D357N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		5	1324	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		357					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.1069G>A	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.422906	0.01126	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.30981	1.51;1.51	5.47	3.06	0.35304	.	0.206543	0.33938	N	0.004410	T	0.07052	0.0179	N	0.00648	-1.295	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.38499	-0.9658	10	0.02654	T	1	-11.8843	7.6101	0.28124	0.0:0.1774:0.0:0.8226	.	357	Q9UQV4	LAMP3_HUMAN	N	357;333	ENSP00000265598:D357N;ENSP00000418912:D333N	ENSP00000265598:D357N	D	-	1	0	LAMP3	184336247	0.745000	0.28261	0.131000	0.22000	0.229000	0.25112	0.947000	0.29082	1.004000	0.39156	-0.285000	0.09966	GAT		0.488	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			107	140	0	0	0	1	0	107	140				
ZCCHC7	84186	broad.mit.edu	37	9	37304256	37304256	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37304256C>A	ENST00000336755.5	+	4	832	c.726C>A	c.(724-726)atC>atA	p.I242I	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	242						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AAAACATTATCTGTAGAAATT	0.373																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(724-726)atC>atA		zinc finger, CCHC domain containing 7							99.0	96.0	97.0					9																	37304256		2203	4300	6503	SO:0001819	synonymous_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37304256C>A	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.726C>A	9.37:g.37304256C>A						ZCCHC7_ENST00000534928.1_5'UTR|ZCCHC7_ENST00000461038.1_3'UTR	p.I242I	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	4	832	+			242					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Silent	SNP	ENST00000336755.5	37	c.726C>A	CCDS6608.2																																																																																				0.373	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		5	68	1	0	0.0215528	1	0.0221649	5	68				
SERPIND1	3053	broad.mit.edu	37	22	21140425	21140425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21140425G>A	ENST00000215727.5	+	4	1580	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433T|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	433					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCAAAGGATCGCCATCGACCT	0.572																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1297-1299)Gcc>Acc		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						194.0	162.0	173.0					22																	21140425		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21140425G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1297G>A	22.37:g.21140425G>A	ENSP00000215727:p.Ala433Thr					PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433T|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	p.A433T	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		4	1580	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	433					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.1297G>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051001	0.19827	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.87412	-2.25;-2.25	5.19	-2.31	0.06765	Serpin domain (3);	1.556280	0.02714	N	0.113191	T	0.79003	0.4373	L	0.31371	0.925	0.09310	N	0.999999	B;B	0.13594	0.008;0.008	B;B	0.12837	0.008;0.008	T	0.61486	-0.7053	10	0.22109	T	0.4	.	7.7511	0.28898	0.4868:0.0:0.4096:0.1037	.	433;433	Q8IVC0;P05546	.;HEP2_HUMAN	T	433	ENSP00000215727:A433T;ENSP00000384050:A433T	ENSP00000215727:A433T	A	+	1	0	SERPIND1	19470425	0.000000	0.05858	0.175000	0.22980	0.848000	0.48234	0.029000	0.13666	-0.394000	0.07727	-0.469000	0.05056	GCC		0.572	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		33	70	0	0	0	1	0	33	70				
PLK2	10769	broad.mit.edu	37	5	57751143	57751143	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751143A>C	ENST00000274289.3	-	12	2024	c.1724T>G	c.(1723-1725)tTt>tGt	p.F575C	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	575					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTAATGAGAAAAGTATTTCAG	0.438																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1723-1725)tTt>tGt		polo-like kinase 2							140.0	137.0	138.0					5																	57751143		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751143A>C		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1724T>G	5.37:g.57751143A>C	ENSP00000274289:p.Phe575Cys					PLK2_ENST00000502671.1_Intron	p.F575C	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	12	2024	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	575					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.1724T>G	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747685	0.69533	.	.	ENSG00000145632	ENST00000274289	T	0.23552	1.9	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59925	-0.7362	10	0.87932	D	0	-20.3617	16.1499	0.81605	1.0:0.0:0.0:0.0	.	575	Q9NYY3	PLK2_HUMAN	C	575	ENSP00000274289:F575C	ENSP00000274289:F575C	F	-	2	0	PLK2	57786900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.220000	0.72140	0.533000	0.62120	TTT		0.438	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		9	136	0	0	0	1	0	9	136				
NUP35	129401	broad.mit.edu	37	2	183995273	183995273	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183995273G>A	ENST00000295119.4	+	3	442	c.339G>A	c.(337-339)caG>caA	p.Q113Q	NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000409798.1_Splice_Site_p.Q96Q|NUP35_ENST00000541912.1_5'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	113					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CAAGAAGACAGGTAATATAAA	0.378																																						ENST00000295119.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.e3+1		nucleoporin 35kDa							120.0	127.0	125.0					2																	183995273		2203	4300	6503	SO:0001630	splice_region_variant	129401				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		g.chr2:183995273G>A	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.339+1G>A	2.37:g.183995273G>A						NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Splice_Site_p.Q96_splice	p.Q113_splice	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN			3	442	+			113					B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Splice_Site	SNP	ENST00000295119.4	37	c.339_splice	CCDS2290.1																																																																																				0.378	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285	Silent	57	98	0	0	0	1	0	57	98				
MEGF10	84466	broad.mit.edu	37	5	126781197	126781197	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126781197C>A	ENST00000274473.6	+	21	2807	c.2540C>A	c.(2539-2541)aCt>aAt	p.T847N	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.T847N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	847	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGAACCAGTACTGCTCTCCCT	0.428																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2539-2541)aCt>aAt		multiple EGF-like-domains 10							170.0	161.0	164.0					5																	126781197		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126781197C>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2540C>A	5.37:g.126781197C>A	ENSP00000274473:p.Thr847Asn					MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.T847N	p.T847N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	21	2807	+		Prostate(80;0.165)	847			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2540C>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458247	0.43634	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56776	0.44;0.44	5.68	5.68	0.88126	.	0.144833	0.46758	D	0.000275	T	0.47930	0.1472	L	0.47716	1.5	0.43527	D	0.995805	B	0.34329	0.449	B	0.33196	0.159	T	0.38023	-0.9680	10	0.15499	T	0.54	-7.3277	19.7775	0.96400	0.0:1.0:0.0:0.0	.	847	Q96KG7	MEG10_HUMAN	N	847	ENSP00000423354:T847N;ENSP00000274473:T847N	ENSP00000274473:T847N	T	+	2	0	MEGF10	126809096	1.000000	0.71417	0.753000	0.31225	0.375000	0.29983	6.044000	0.71012	2.681000	0.91329	0.563000	0.77884	ACT		0.428	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		29	55	1	0	1.88708e-17	1	2.44853e-17	29	55				
PYGL	5836	broad.mit.edu	37	14	51387279	51387279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51387279C>T	ENST00000216392.7	-	7	1167	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	PYGL_ENST00000544180.2_Missense_Mutation_p.V245I|PYGL_ENST00000532462.1_Missense_Mutation_p.V279I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	279					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGATAGAGGACCCGGGAGATG	0.443																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(835-837)Gtc>Atc		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						89.0	86.0	87.0					14																	51387279		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51387279C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.835G>A	14.37:g.51387279C>T	ENSP00000216392:p.Val279Ile					PYGL_ENST00000532462.1_Missense_Mutation_p.V279I|PYGL_ENST00000544180.2_Missense_Mutation_p.V245I	p.V279I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			7	1167	-	all_epithelial(31;0.00825)|Breast(41;0.148)		279					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.835G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812310	0.96975	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94497	-3.44;-3.44;-3.44	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.96411	0.8829	M	0.76433	2.335	0.80722	D	1	P;B;P	0.50819	0.939;0.125;0.894	P;P;P	0.55577	0.779;0.52;0.65	D	0.96526	0.9389	10	0.72032	D	0.01	-12.2436	18.847	0.92210	0.0:1.0:0.0:0.0	.	245;279;279	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	I	279;245;279	ENSP00000431657:V279I;ENSP00000443787:V245I;ENSP00000216392:V279I	ENSP00000216392:V279I	V	-	1	0	PYGL	50457029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.770000	0.95276	0.650000	0.86243	GTC		0.443	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		29	43	0	0	0	1	0	29	43				
KIF21B	23046	broad.mit.edu	37	1	200956013	200956013	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200956013C>T	ENST00000422435.2	-	26	3964	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	KIF21B_ENST00000332129.2_Silent_p.P1216P|KIF21B_ENST00000461742.2_Silent_p.P1216P|KIF21B_ENST00000360529.5_Silent_p.P1216P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1216					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTCGTCAGCGGGGACGTCT	0.547																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3646-3648)ccG>ccA		kinesin family member 21B							131.0	105.0	114.0					1																	200956013		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200956013C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3648G>A	1.37:g.200956013C>T						KIF21B_ENST00000360529.5_Silent_p.P1216P|KIF21B_ENST00000461742.2_Silent_p.P1216P|KIF21B_ENST00000422435.2_Silent_p.P1216P	p.P1216P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			26	3964	-			1216					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.3648G>A	CCDS58056.1																																																																																				0.547	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		30	28	0	0	0	1	0	30	28				
CPA6	57094	broad.mit.edu	37	8	68334878	68334878	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68334878G>T	ENST00000297770.4	-	11	1390	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	CPA6_ENST00000297769.4_Missense_Mutation_p.P148H	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	392						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAATGCATAAGGTATTCCATT	0.388																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(1174-1176)cCt>cAt		carboxypeptidase A6							110.0	110.0	110.0					8																	68334878		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334878G>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1175C>A	8.37:g.68334878G>T	ENSP00000297770:p.Pro392His					CPA6_ENST00000297769.4_Missense_Mutation_p.P148H	p.P392H	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		11	1390	-			392					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.1175C>A	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614749	0.46631	.	.	ENSG00000165078	ENST00000297769;ENST00000297770	T;T	0.29917	1.55;1.55	5.86	3.12	0.35913	Peptidase M14, carboxypeptidase A (2);	0.108808	0.64402	N	0.000005	T	0.50171	0.1600	M	0.75085	2.285	0.25503	N	0.987532	B;D	0.71674	0.013;0.998	B;D	0.72982	0.007;0.979	T	0.40608	-0.9554	10	0.87932	D	0	.	7.9121	0.29798	0.0642:0.1188:0.6934:0.1236	.	148;392	Q8N4T0-3;Q8N4T0	.;CBPA6_HUMAN	H	148;392	ENSP00000297769:P148H;ENSP00000297770:P392H	ENSP00000297769:P148H	P	-	2	0	CPA6	68497432	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.243000	0.65395	0.398000	0.25338	0.591000	0.81541	CCT		0.388	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		8	66	1	0	1.12685e-05	1	1.27857e-05	8	66				
PHLDB2	90102	broad.mit.edu	37	3	111632216	111632216	+	Silent	SNP	G	G	A	rs376772318		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111632216G>A	ENST00000431670.2	+	3	1797	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	PHLDB2_ENST00000481953.1_Silent_p.K462K|PHLDB2_ENST00000393923.3_Silent_p.K489K|PHLDB2_ENST00000393925.3_Silent_p.K462K|PHLDB2_ENST00000412622.1_Silent_p.K462K|PHLDB2_ENST00000477695.1_Silent_p.K462K|PHLDB2_ENST00000495180.1_Silent_p.K48K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	462						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATACACAAAGCCTGACAGTC	0.512																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1384-1386)aaG>aaA		pleckstrin homology-like domain, family B, member 2		G	,,,	0,4406		0,0,2203	121.0	119.0	120.0		1467,1386,1386,1386	4.8	1.0	3		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PHLDB2	NM_001134437.1,NM_001134438.1,NM_001134439.1,NM_145753.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	489/1238,462/1254,462/1254,462/1211	111632216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632216G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1386G>A	3.37:g.111632216G>A						PHLDB2_ENST00000393923.3_Silent_p.K489K|PHLDB2_ENST00000477695.1_Silent_p.K462K|PHLDB2_ENST00000412622.1_Silent_p.K462K|PHLDB2_ENST00000495180.1_Silent_p.K48K|PHLDB2_ENST00000481953.1_Silent_p.K462K|PHLDB2_ENST00000393925.3_Silent_p.K462K	p.K462K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			3	1797	+			462					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.1386G>A	CCDS46886.1																																																																																				0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		69	53	0	0	0	1	0	69	53				
MCM10	55388	broad.mit.edu	37	10	13231056	13231056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13231056C>A	ENST00000484800.2	+	10	1497	c.1394C>A	c.(1393-1395)tCt>tAt	p.S465Y	MCM10_ENST00000378714.3_Missense_Mutation_p.S464Y|MCM10_ENST00000378694.1_Missense_Mutation_p.S464Y			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	465					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAGGGGTTTCTTCTGCCTCG	0.493																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1390-1392)tCt>tAt		minichromosome maintenance complex component 10							100.0	101.0	101.0					10																	13231056		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13231056C>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1394C>A	10.37:g.13231056C>A	ENSP00000418268:p.Ser465Tyr					MCM10_ENST00000484800.2_Missense_Mutation_p.S465Y|MCM10_ENST00000378714.3_Missense_Mutation_p.S464Y	p.S464Y			Q7L590	MCM10_HUMAN			9	1466	+			465					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.1391C>A	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341170	0.81911	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.21543	2.03;2.05;2.0	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.988	T	0.05784	-1.0864	10	0.52906	T	0.07	-18.467	20.0359	0.97557	0.0:1.0:0.0:0.0	.	464;464;465	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	Y	464;465;465;464	ENSP00000367986:S464Y;ENSP00000418268:S465Y;ENSP00000367966:S464Y	ENSP00000354945:S465Y	S	+	2	0	MCM10	13271062	1.000000	0.71417	0.866000	0.34008	0.521000	0.34408	7.692000	0.84203	2.805000	0.96524	0.655000	0.94253	TCT		0.493	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		6	84	1	0	0.0293803	1	0.0301098	6	84				
FGFRL1	53834	broad.mit.edu	37	4	1018732	1018732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018732C>T	ENST00000398484.2	+	8	1692	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.S371L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S371L|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.S371L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	371					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTCGTCCTCGGCCACTAGC	0.647																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1111-1113)tCg>tTg		fibroblast growth factor receptor-like 1							24.0	28.0	27.0					4																	1018732		2199	4291	6490	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018732C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1112C>T	4.37:g.1018732C>T	ENSP00000381498:p.Ser371Leu					FGFRL1_ENST00000264748.6_Missense_Mutation_p.S371L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S371L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.S371L	p.S371L			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	1692	+			371					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1112C>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	9.681	1.149382	0.21288	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.81	4.81	0.61882	.	0.453652	0.23777	N	0.044674	T	0.62208	0.2409	L	0.41824	1.3	0.43559	D	0.995872	B	0.23650	0.089	B	0.12156	0.007	T	0.60281	-0.7294	10	0.40728	T	0.16	-18.2541	15.0538	0.71897	0.0:1.0:0.0:0.0	.	371	Q8N441	FGRL1_HUMAN	L	371;341;371;371;371	ENSP00000381498:S371L;ENSP00000425025:S371L;ENSP00000423091:S371L;ENSP00000264748:S371L	ENSP00000264748:S371L	S	+	2	0	FGFRL1	1008732	0.041000	0.20044	0.635000	0.29338	0.532000	0.34746	2.113000	0.41902	2.243000	0.73865	0.651000	0.88453	TCG		0.647	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		14	16	0	0	0	1	0	14	16				
TNFAIP8L2	79626	broad.mit.edu	37	1	151131470	151131470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151131470G>A	ENST00000368910.3	+	2	423	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	99					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGGTGCCATGACGGCACTTA	0.617																																						ENST00000368910.3																			0				lung(1)|skin(2)	3						c.(295-297)atG>atA		tumor necrosis factor, alpha-induced protein 8-like 2							60.0	48.0	52.0					1																	151131470		2203	4300	6503	SO:0001583	missense	79626				innate immune response			g.chr1:151131470G>A	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.297G>A	1.37:g.151131470G>A	ENSP00000357906:p.Met99Ile						p.M99I	NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	423	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		99					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	c.297G>A	CCDS985.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203334	0.95033	.	.	ENSG00000163154	ENST00000368910	T	0.35236	1.32	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	M	0.84082	2.675	0.80722	D	1	B	0.25609	0.13	B	0.30316	0.114	T	0.38373	-0.9664	10	0.72032	D	0.01	-8.9878	18.5563	0.91086	0.0:0.0:1.0:0.0	.	99	Q6P589	TP8L2_HUMAN	I	99	ENSP00000357906:M99I	ENSP00000357906:M99I	M	+	3	0	TNFAIP8L2	149398094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.673000	0.90976	0.655000	0.94253	ATG		0.617	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		4	51	0	0	0	1	0	4	51				
SELP	6403	broad.mit.edu	37	1	169565263	169565263	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169565263A>C	ENST00000263686.6	-	12	2038	c.2001T>G	c.(1999-2001)acT>acG	p.T667T	SELP_ENST00000367793.2_Silent_p.T605T|SELP_ENST00000458599.2_Silent_p.T483T|SELP_ENST00000367791.2_Silent_p.T481T|SELP_ENST00000367788.2_Silent_p.T605T|SELP_ENST00000367792.2_Silent_p.T483T|SELP_ENST00000367794.2_Silent_p.T605T|SELP_ENST00000367786.2_Silent_p.T605T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	667	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAAAGTAACAAGTGGTATTAA	0.522																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1999-2001)acT>acG		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						316.0	309.0	311.0					1																	169565263		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169565263A>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2001T>G	1.37:g.169565263A>C						SELP_ENST00000367794.2_Silent_p.T605T|SELP_ENST00000367793.2_Silent_p.T605T|SELP_ENST00000458599.2_Silent_p.T483T|SELP_ENST00000367792.2_Silent_p.T483T|SELP_ENST00000367791.2_Silent_p.T481T|SELP_ENST00000367788.2_Silent_p.T605T|SELP_ENST00000367786.2_Silent_p.T605T	p.T667T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			12	2038	-	all_hematologic(923;0.208)		667			Sushi 8.		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.2001T>G	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	4.166	0.029383	0.08054	.	.	ENSG00000174175	ENST00000446728	.	.	.	4.22	0.531	0.17108	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15578	-1.0432	4	.	.	.	-18.506	3.6539	0.08213	0.5981:0.1935:0.2084:0.0	.	.	.	.	V	483	.	.	L	-	1	2	SELP	167831887	0.950000	0.32346	0.996000	0.52242	0.513000	0.34164	-0.159000	0.10056	-0.014000	0.14175	-0.376000	0.06991	TTG		0.522	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		36	427	0	0	0	1	0	36	427				
ABCG8	64241	broad.mit.edu	37	2	44071654	44071654	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44071654G>T	ENST00000272286.2	+	2	162	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	24					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AGGGCCTCCAGGATAGATTGT	0.522																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45	GRCh37	CX044199	ABCG8	X		c.(70-72)caG>caT		ATP-binding cassette, sub-family G (WHITE), member 8							56.0	48.0	51.0					2																	44071654		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44071654G>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.72G>T	2.37:g.44071654G>T	ENSP00000272286:p.Gln24His						p.Q24H	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			2	162	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	24					Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.72G>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703604	0.68501	.	.	ENSG00000143921	ENST00000272286	D	0.88664	-2.41	5.15	5.15	0.70609	.	0.247907	0.41500	D	0.000871	D	0.88466	0.6444	L	0.29908	0.895	0.42200	D	0.991763	D;D	0.65815	0.995;0.991	P;P	0.60886	0.88;0.762	D	0.88770	0.3263	10	0.72032	D	0.01	.	8.808	0.34950	0.079:0.1516:0.7694:0.0	.	24;24	Q9H221-2;Q9H221	.;ABCG8_HUMAN	H	24	ENSP00000272286:Q24H	ENSP00000272286:Q24H	Q	+	3	2	ABCG8	43925158	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.242000	0.51384	2.395000	0.81488	0.551000	0.68910	CAG		0.522	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		14	19	1	0	1.52009e-12	1	1.91418e-12	14	19				
MUC2	4583	broad.mit.edu	37	11	1090362	1090362	+	Missense_Mutation	SNP	G	G	A	rs375080487		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1090362G>A	ENST00000441003.2	+	27	3685	c.3658G>A	c.(3658-3660)Gtc>Atc	p.V1220I	MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1220					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCCAAGTCGTCTGCAGGCC	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3658-3660)Gtc>Atc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)		ILE/VAL	1,4377		0,1,2188	62.0	68.0	66.0		3658	-4.6	0.0	11		66	0,8556		0,0,4278	no	missense	MUC2	NM_002457.2	29	0,1,6466	AA,AG,GG		0.0,0.0228,0.0077	benign	1220/2813	1090362	1,12933	2189	4278	6467	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1090362G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3658G>A	11.37:g.1090362G>A	ENSP00000415183:p.Val1220Ile					MUC2_ENST00000359061.5_Intron	p.V1220I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	27	3685	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1220					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3658G>A		.	.	.	.	.	.	.	.	.	.	g	0.644	-0.812166	0.02798	2.28E-4	0.0	ENSG00000198788	ENST00000441003	T	0.12361	2.69	2.29	-4.57	0.03421	.	.	.	.	.	T	0.05823	0.0152	N	0.20685	0.6	0.09310	N	1	B	0.30741	0.293	B	0.16289	0.015	T	0.28073	-1.0055	9	0.25106	T	0.35	.	5.6406	0.17562	0.5443:0.1485:0.3072:0.0	.	1220	E7EUV1	.	I	1220	ENSP00000415183:V1220I	ENSP00000415183:V1220I	V	+	1	0	MUC2	1080362	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.516000	0.02250	-2.048000	0.00907	-1.611000	0.00801	GTC		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	8	0	0	0	1	0	5	8				
PPM1A	5494	broad.mit.edu	37	14	60756575	60756575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60756575G>A	ENST00000395076.4	+	4	1434	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	PPM1A_ENST00000529574.1_Missense_Mutation_p.R335H|PPM1A_ENST00000325642.3_Missense_Mutation_p.R408H	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	335					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.R335H(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CATGTGATGCGCACATTAGCG	0.433																																						ENST00000395076.4																			1	Substitution - Missense(1)	p.R335H(1)	large_intestine(1)	cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1003-1005)cGc>cAc		protein phosphatase, Mg2+/Mn2+ dependent, 1A							68.0	68.0	68.0					14																	60756575		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60756575G>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.1004G>A	14.37:g.60756575G>A	ENSP00000378514:p.Arg335His					PPM1A_ENST00000529574.1_Missense_Mutation_p.R335H|PPM1A_ENST00000325642.3_Missense_Mutation_p.R408H	p.R335H	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	4	1434	+			335					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.1004G>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255178	0.59321	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076	T;T;T	0.34275	1.37;1.41;1.41	5.36	5.36	0.76844	Protein serine/threonine phosphatase 2C, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	L	0.39326	1.205	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.06405	0.002;0.002	T	0.05370	-1.0889	10	0.39692	T	0.17	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	335;335	P35813;B2R8E4	PPM1A_HUMAN;.	H	408;335;335	ENSP00000327255:R408H;ENSP00000432966:R335H;ENSP00000378514:R335H	ENSP00000327255:R408H	R	+	2	0	PPM1A	59826328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.970000	0.88000	2.669000	0.90835	0.585000	0.79938	CGC		0.433	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		5	17	0	0	0	1	0	5	17				
SMTN	6525	broad.mit.edu	37	22	31485987	31485987	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31485987G>T	ENST00000347557.2	+	7	992	c.774G>T	c.(772-774)gaG>gaT	p.E258D	SMTN_ENST00000333137.7_Missense_Mutation_p.E258D|SMTN_ENST00000358743.1_Missense_Mutation_p.E258D	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	258	Pro-rich.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAGCACTGAGGGCCAGGTGG	0.642																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(772-774)gaG>gaT		smoothelin							37.0	37.0	37.0					22																	31485987		2201	4294	6495	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31485987G>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.774G>T	22.37:g.31485987G>T	ENSP00000328635:p.Glu258Asp					SMTN_ENST00000358743.1_Missense_Mutation_p.E258D|SMTN_ENST00000347557.2_Missense_Mutation_p.E258D	p.E258D	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			7	992	+			258			Pro-rich.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.774G>T	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	2.088	-0.409054	0.04799	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.68624	0.08;-0.34;-0.34	4.3	1.06	0.20224	.	0.666687	0.12473	N	0.465875	T	0.42040	0.1185	N	0.12182	0.205	0.09310	N	0.999999	B;B;B;B;B;B	0.25105	0.001;0.118;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.21917	0.002;0.037;0.002;0.002;0.001;0.002	T	0.23013	-1.0200	10	0.36615	T	0.2	-12.2014	4.4467	0.11600	0.2027:0.1854:0.6119:0.0	.	314;312;250;258;258;258	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	D	258;258;258;258;250	ENSP00000351593:E258D;ENSP00000328635:E258D;ENSP00000329532:E258D	ENSP00000329393:E258D	E	+	3	2	SMTN	29815987	0.004000	0.15560	0.005000	0.12908	0.057000	0.15508	0.366000	0.20365	0.343000	0.23821	0.563000	0.77884	GAG		0.642	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		3	11	1	0	0.115264	1	0.117355	3	11				
SMG7	9887	broad.mit.edu	37	1	183502407	183502407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183502407C>T	ENST00000347615.2	+	9	1071	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	SMG7_ENST00000507469.1_Missense_Mutation_p.H318Y|SMG7_ENST00000456731.2_Missense_Mutation_p.H276Y|SMG7_ENST00000508461.1_Missense_Mutation_p.H276Y|SMG7_ENST00000515829.2_Missense_Mutation_p.H318Y|SMG7_ENST00000367537.3_Missense_Mutation_p.H347Y	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	318					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACCGAGCAGCACACTTATAG	0.393																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1039-1041)Cac>Tac		SMG7 nonsense mediated mRNA decay factor							223.0	205.0	211.0					1																	183502407		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183502407C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.952C>T	1.37:g.183502407C>T	ENSP00000340766:p.His318Tyr					SMG7_ENST00000347615.2_Missense_Mutation_p.H318Y|SMG7_ENST00000456731.2_Missense_Mutation_p.H276Y|SMG7_ENST00000515829.2_Missense_Mutation_p.H318Y|SMG7_ENST00000508461.1_Missense_Mutation_p.H276Y|SMG7_ENST00000507469.1_Missense_Mutation_p.H318Y	p.H347Y			Q92540	SMG7_HUMAN			10	1234	+			318					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1039C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352678	0.61293	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.81	5.81	0.92471	.	0.181219	0.51477	D	0.000088	T	0.27349	0.0671	L	0.34521	1.04	0.58432	D	0.999998	B;P;B;B;P;P	0.42357	0.435;0.662;0.264;0.106;0.662;0.777	B;B;B;B;B;B	0.35655	0.086;0.137;0.086;0.084;0.137;0.207	T	0.05468	-1.0883	10	0.66056	D	0.02	-14.8402	20.0784	0.97758	0.0:1.0:0.0:0.0	.	276;347;276;318;318;318	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Y	276;347;276;276;318;318;318	ENSP00000407629:H276Y;ENSP00000356507:H347Y;ENSP00000426915:H276Y;ENSP00000388390:H276Y;ENSP00000340766:H318Y;ENSP00000425133:H318Y;ENSP00000421358:H318Y	ENSP00000340766:H318Y	H	+	1	0	SMG7	181769030	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.264000	0.78432	2.736000	0.93811	0.655000	0.94253	CAC		0.393	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		7	242	0	0	0	1	0	7	242				
THOC6	79228	broad.mit.edu	37	16	3075971	3075971	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075971C>A	ENST00000326266.8	+	3	498	c.202C>A	c.(202-204)Ccg>Acg	p.P68T	THOC6_ENST00000253952.9_Missense_Mutation_p.P68T|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.P44T|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.P44T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	68					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						AAGTAAGAAGCCGGTGGTGAC	0.542																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(202-204)Ccg>Acg		THO complex 6 homolog (Drosophila)							104.0	114.0	111.0					16																	3075971		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3075971C>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.202C>A	16.37:g.3075971C>A	ENSP00000326531:p.Pro68Thr					THOC6_ENST00000575576.1_Missense_Mutation_p.P44T|THOC6_ENST00000253952.9_Missense_Mutation_p.P68T|THOC6_ENST00000574549.1_Missense_Mutation_p.P44T	p.P68T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			3	498	+			68					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.202C>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653178	0.47362	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.30448	1.53;1.53	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.48502	-0.9030	10	0.22706	T	0.39	-16.8125	16.8464	0.85982	0.0:1.0:0.0:0.0	.	68;68	Q86W42-3;Q86W42	.;THOC6_HUMAN	T	68	ENSP00000326531:P68T;ENSP00000253952:P68T	ENSP00000253952:P68T	P	+	1	0	THOC6	3015972	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	6.616000	0.74205	2.577000	0.86979	0.561000	0.74099	CCG		0.542	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		19	134	1	0	1.45105e-14	1	1.85325e-14	19	134				
KIAA1377	57562	broad.mit.edu	37	11	101793417	101793417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101793417G>T	ENST00000263468.8	+	2	444	c.174G>T	c.(172-174)caG>caT	p.Q58H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	58										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGAGCGCCAGATATTACTGC	0.338																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(172-174)caG>caT		KIAA1377							61.0	63.0	63.0					11																	101793417		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101793417G>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.174G>T	11.37:g.101793417G>T	ENSP00000263468:p.Gln58His						p.Q58H	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	2	444	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	58					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.174G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412294	0.42817	.	.	ENSG00000110318	ENST00000263468	T	0.09163	3.01	5.93	-0.725	0.11174	.	0.091295	0.42821	D	0.000654	T	0.25717	0.0626	M	0.65975	2.015	0.51012	D	0.999909	D	0.89917	1.0	D	0.72338	0.977	T	0.01218	-1.1415	10	0.87932	D	0	-7.13	11.3702	0.49696	0.4494:0.0:0.5506:0.0	.	58	Q9P2H0	K1377_HUMAN	H	58	ENSP00000263468:Q58H	ENSP00000263468:Q58H	Q	+	3	2	KIAA1377	101298627	0.961000	0.32948	0.975000	0.42487	0.864000	0.49448	-0.035000	0.12205	-0.103000	0.12175	-0.345000	0.07892	CAG		0.338	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		21	26	1	0	8.10497e-08	1	9.61437e-08	21	26				
UNC5D	137970	broad.mit.edu	37	8	35616915	35616915	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35616915C>A	ENST00000404895.2	+	14	2569	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	UNC5D_ENST00000453357.2_Silent_p.T742T|UNC5D_ENST00000449677.1_Silent_p.T323T|UNC5D_ENST00000416672.1_Silent_p.T752T|UNC5D_ENST00000287272.2_Silent_p.T678T|UNC5D_ENST00000420357.1_Silent_p.T680T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	747					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAATACCTTTAGTCTTC	0.418																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2032-2034)acC>acA		unc-5 homolog D (C. elegans)							194.0	183.0	186.0					8																	35616915		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35616915C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2241C>A	8.37:g.35616915C>A						UNC5D_ENST00000416672.1_Silent_p.T752T|UNC5D_ENST00000453357.2_Silent_p.T742T|UNC5D_ENST00000404895.2_Silent_p.T747T|UNC5D_ENST00000449677.1_Silent_p.T323T|UNC5D_ENST00000420357.1_Silent_p.T680T	p.T678T			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2054	+			747					Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.2034C>A	CCDS6093.2																																																																																				0.418	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			62	92	1	0	1.31726e-23	1	1.74514e-23	62	92				
TRIM17	51127	broad.mit.edu	37	1	228602720	228602720	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228602720G>T	ENST00000366697.2	-	1	1010	c.54C>A	c.(52-54)atC>atA	p.I18I	TRIM17_ENST00000366698.2_Silent_p.I18I|TRIM17_ENST00000456946.2_Silent_p.I18I|TRIM17_ENST00000295033.3_Silent_p.I18I			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	18					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AATCCAGACAGATGGAGCACG	0.587																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(52-54)atC>atA		tripartite motif containing 17							34.0	33.0	33.0					1																	228602720		2203	4300	6503	SO:0001819	synonymous_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228602720G>T	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.54C>A	1.37:g.228602720G>T						TRIM17_ENST00000366698.2_Silent_p.I18I|TRIM17_ENST00000295033.3_Silent_p.I18I|TRIM17_ENST00000456946.2_Silent_p.I18I	p.I18I			Q9Y577	TRI17_HUMAN			1	1010	-		Prostate(94;0.0724)	18					B4DVJ2|Q5VST8	Silent	SNP	ENST00000366697.2	37	c.54C>A	CCDS1571.1																																																																																				0.587	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		17	14	1	0	6.94344e-10	1	8.49476e-10	17	14				
ENGASE	64772	broad.mit.edu	37	17	77080732	77080732	+	Missense_Mutation	SNP	G	G	A	rs548052553		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77080732G>A	ENST00000579016.1	+	11	1555	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	519						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGGGATGCCGGCAGCTGCCA	0.612																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1555-1557)Ggc>Agc		endo-beta-N-acetylglucosaminidase							53.0	66.0	62.0					17																	77080732		2063	4228	6291	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77080732G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1555G>A	17.37:g.77080732G>A	ENSP00000462333:p.Gly519Ser						p.G519S	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			11	1555	+			519					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.1555G>A	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.296988	0.01364	.	.	ENSG00000167280	ENST00000545583	.	.	.	5.27	-4.7	0.03288	.	0.859410	0.10862	N	0.626038	T	0.31765	0.0807	L	0.32530	0.975	0.09310	N	0.999997	B	0.18166	0.026	B	0.10450	0.005	T	0.39800	-0.9596	9	0.07990	T	0.79	-12.8227	16.609	0.84838	0.245:0.0:0.755:0.0	.	519	Q8NFI3	ENASE_HUMAN	S	519	.	ENSP00000438577:G519S	G	+	1	0	ENGASE	74592327	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.356000	0.07661	-0.819000	0.04323	-1.267000	0.01435	GGC		0.612	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		34	46	0	0	0	1	0	34	46				
ZNF596	169270	broad.mit.edu	37	8	195916	195916	+	Missense_Mutation	SNP	C	C	T	rs137958651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:195916C>T	ENST00000398612.1	+	6	1452	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ZNF596_ENST00000308811.4_Missense_Mutation_p.H357Y|ZNF596_ENST00000320552.2_Missense_Mutation_p.H287Y	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGCGAAGTCACAATGGAGA	0.408																																						ENST00000398612.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14						c.(1069-1071)Cac>Tac		zinc finger protein 596							80.0	84.0	83.0					8																	195916		2203	4300	6503	SO:0001583	missense	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:195916C>T	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1069C>T	8.37:g.195916C>T	ENSP00000381613:p.His357Tyr					ZNF596_ENST00000320552.2_Missense_Mutation_p.H287Y|ZNF596_ENST00000308811.4_Missense_Mutation_p.H357Y	p.H357Y	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	6	1452	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	357					B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	c.1069C>T	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	17.13	3.311316	0.60414	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.67523	-0.27;-0.27;-0.27	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84683	0.5526	M	0.93678	3.445	0.28152	N	0.929363	D	0.89917	1.0	D	0.87578	0.998	T	0.76008	-0.3116	9	0.87932	D	0	.	11.2345	0.48931	0.0:1.0:0.0:0.0	.	357	Q8TC21	ZN596_HUMAN	Y	357;287;357	ENSP00000310033:H357Y;ENSP00000318719:H287Y;ENSP00000381613:H357Y	ENSP00000310033:H357Y	H	+	1	0	ZNF596	185916	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.313000	0.59160	1.737000	0.51674	0.591000	0.81541	CAC		0.408	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		15	35	0	0	0	1	0	15	35				
CNOT1	23019	broad.mit.edu	37	16	58585554	58585554	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58585554G>T	ENST00000317147.5	-	23	3472	c.3140C>A	c.(3139-3141)aCt>aAt	p.T1047N	CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569240.1_Missense_Mutation_p.T1042N|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.T1047N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1047					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTAGCAACAGTGGTAGTTGT	0.473																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(3139-3141)aCt>aAt		CCR4-NOT transcription complex, subunit 1							139.0	131.0	134.0					16																	58585554		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58585554G>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3140C>A	16.37:g.58585554G>T	ENSP00000320949:p.Thr1047Asn					CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.T1042N|CNOT1_ENST00000441024.2_Missense_Mutation_p.T1047N	p.T1047N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	23	3472	-			1047					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3140C>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097857	0.37048	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.47528	0.88;0.84	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	N	0.10874	0.06	0.80722	D	1	D;P;P	0.58620	0.983;0.704;0.456	P;B;B	0.53649	0.731;0.113;0.098	T	0.29397	-1.0013	10	0.17832	T	0.49	.	19.189	0.93656	0.0:0.0:1.0:0.0	.	1047;1047;1042	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	N	1047;476;1042;1047	ENSP00000320949:T1047N;ENSP00000413113:T1047N	ENSP00000320949:T1047N	T	-	2	0	CNOT1	57143055	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.019000	0.88732	2.540000	0.85666	0.563000	0.77884	ACT		0.473	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		12	127	1	0	7.03913e-09	1	8.47891e-09	12	127				
PLA2G3	50487	broad.mit.edu	37	22	31531876	31531876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31531876G>A	ENST00000215885.3	-	7	1615	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	455					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGAAGCCTCCGCAAGTGCCGG	0.582																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(1363-1365)Cgg>Tgg		phospholipase A2, group III							56.0	59.0	58.0					22																	31531876		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31531876G>A	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1363C>T	22.37:g.31531876G>A	ENSP00000215885:p.Arg455Trp						p.R455W	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			7	1615	-			455					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.1363C>T	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022195	0.54683	.	.	ENSG00000100078	ENST00000215885	T	0.32272	1.46	5.38	2.06	0.26882	Phospholipase A2 (2);	1.172200	0.05899	N	0.629739	T	0.30198	0.0757	L	0.59436	1.845	0.09310	N	1	B	0.22080	0.064	B	0.12837	0.008	T	0.32375	-0.9909	10	0.66056	D	0.02	-7.6332	4.9013	0.13777	0.1784:0.0:0.6527:0.1689	.	455	Q9NZ20	PA2G3_HUMAN	W	455	ENSP00000215885:R455W	ENSP00000215885:R455W	R	-	1	2	PLA2G3	29861876	0.014000	0.17966	0.038000	0.18304	0.684000	0.39900	0.292000	0.19011	0.317000	0.23160	0.655000	0.94253	CGG		0.582	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		21	47	0	0	0	1	0	21	47				
KIF16B	55614	broad.mit.edu	37	20	16486802	16486802	+	Missense_Mutation	SNP	C	C	T	rs377708134		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16486802C>T	ENST00000354981.2	-	8	890	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	KIF16B_ENST00000408042.1_Missense_Mutation_p.V245I|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.V245I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	245	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCTTACTGACGGTTTCACAT	0.438																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(733-735)Gtc>Atc		kinesin family member 16B							115.0	116.0	115.0					20																	16486802		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16486802C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.733G>A	20.37:g.16486802C>T	ENSP00000347076:p.Val245Ile					KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.V245I|KIF16B_ENST00000355755.3_Missense_Mutation_p.V245I	p.V245I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			8	890	-			245			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.733G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211605	0.79240	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.73047	-0.71;-0.71;-0.71	5.15	5.15	0.70609	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	L	0.52823	1.66	0.80722	D	1	D;D;P;D	0.63046	0.957;0.992;0.948;0.958	B;P;B;P	0.51945	0.399;0.685;0.371;0.505	T	0.76424	-0.2964	10	0.72032	D	0.01	.	12.3792	0.55297	0.0:0.922:0.0:0.078	.	245;245;245;245	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	245	ENSP00000347076:V245I;ENSP00000347995:V245I;ENSP00000384164:V245I	ENSP00000347076:V245I	V	-	1	0	KIF16B	16434802	0.996000	0.38824	0.979000	0.43373	0.790000	0.44656	3.290000	0.51755	2.552000	0.86080	0.563000	0.77884	GTC		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		44	109	0	0	0	1	0	44	109				
PRR14L	253143	broad.mit.edu	37	22	32108277	32108277	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32108277T>A	ENST00000327423.6	-	4	5737	c.5548A>T	c.(5548-5550)Agg>Tgg	p.R1850W	PRR14L_ENST00000434485.1_Missense_Mutation_p.R1850W|PRR14L_ENST00000397493.2_Missense_Mutation_p.R1850W	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1850										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ATGAAGAGCCTCTGCATGGTA	0.527																																						ENST00000327423.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						c.(5548-5550)Agg>Tgg		proline rich 14-like							100.0	99.0	99.0					22																	32108277		2203	4300	6503	SO:0001583	missense	253143							g.chr22:32108277T>A	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5548A>T	22.37:g.32108277T>A	ENSP00000331845:p.Arg1850Trp					PRR14L_ENST00000397493.2_Missense_Mutation_p.R1850W|PRR14L_ENST00000434485.1_Missense_Mutation_p.R1850W	p.R1850W	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN			4	5737	-			1850					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	c.5548A>T	CCDS13900.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.36|19.36	3.813192|3.813192	0.70912|0.70912	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000330495|ENST00000397493;ENST00000327423;ENST00000434485	.|T;T;T	.|0.61392	.|0.11;0.11;0.11	5.66|5.66	4.6|4.6	0.57074|0.57074	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71904|0.71904	0.3395|0.3395	M|M	0.63843|0.63843	1.955|1.955	0.41973|0.41973	D|D	0.990763|0.990763	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.74115|0.74115	-0.3769|-0.3769	5|10	.|0.87932	.|D	.|0	-14.4531|-14.4531	12.0696|12.0696	0.53609|0.53609	0.0:0.0:0.144:0.856|0.0:0.0:0.144:0.856	.|.	.|1850;1850;1850	.|Q5THK1-2;Q5THK1;Q5THK1-4	.|.;PR14L_HUMAN;.	V|W	152|1850	.|ENSP00000380630:R1850W;ENSP00000331845:R1850W;ENSP00000388314:R1850W	.|ENSP00000331845:R1850W	E|R	-|-	2|1	0|2	PRR14L|PRR14L	30438277|30438277	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	5.211000|5.211000	0.65219|0.65219	0.931000|0.931000	0.37242|0.37242	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.527	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		5	76	0	0	0	1	0	5	76				
SCAF11	9169	broad.mit.edu	37	12	46326922	46326922	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46326922T>C	ENST00000369367.3	-	9	959	c.726A>G	c.(724-726)ggA>ggG	p.G242G	SCAF11_ENST00000549162.1_Silent_p.G50G|SCAF11_ENST00000419565.2_Silent_p.G242G	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	242					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACCTTCCAATTCCAGGTAATG	0.333																																						ENST00000369367.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(724-726)ggA>ggG		SR-related CTD-associated factor 11							79.0	75.0	76.0					12																	46326922		1817	4069	5886	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46326922T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.726A>G	12.37:g.46326922T>C						SCAF11_ENST00000549162.1_Silent_p.G50G|SCAF11_ENST00000419565.2_Silent_p.G242G	p.G242G	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN			9	959	-			242					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.726A>G	CCDS8748.2																																																																																				0.333	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		19	34	0	0	0	1	0	19	34				
PSG3	5671	broad.mit.edu	37	19	43233277	43233277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43233277G>A	ENST00000327495.5	-	5	1425	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	PSG3_ENST00000595140.1_Missense_Mutation_p.S414F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	414					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.468																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1240-1242)tCt>tTt		pregnancy specific beta-1-glycoprotein 3							164.0	168.0	167.0					19																	43233277		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233277G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1241C>T	19.37:g.43233277G>A	ENSP00000332215:p.Ser414Phe					PSG3_ENST00000595140.1_Missense_Mutation_p.S414F	p.S414F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1425	-		Prostate(69;0.00682)	414					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.1241C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	10.13	1.266430	0.23136	.	.	ENSG00000221826	ENST00000327495	T	0.20463	2.07	1.33	-2.65	0.06095	Immunoglobulin-like fold (1);	.	.	.	.	T	0.17109	0.0411	L	0.53617	1.68	0.09310	N	1	B;B;P	0.41710	0.167;0.044;0.76	B;B;P	0.45474	0.14;0.073;0.482	T	0.24476	-1.0159	9	0.09843	T	0.71	.	2.8163	0.05457	0.0:0.3052:0.3886:0.3062	.	338;414;414	Q08266;P11464-2;Q16557	.;.;PSG3_HUMAN	F	414	ENSP00000332215:S414F	ENSP00000332215:S414F	S	-	2	0	PSG3	47925117	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.342000	0.02645	-0.169000	0.10834	0.393000	0.25936	TCT		0.468	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		58	108	0	0	0	1	0	58	108				
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142175310C>A	ENST00000262585.2	+	11	1513	c.1235C>A	c.(1234-1236)tCt>tAt	p.S412Y	DENND3_ENST00000519811.1_Missense_Mutation_p.S492Y|DENND3_ENST00000424248.1_Missense_Mutation_p.S360Y	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1474-1476)tCt>tAt		DENN/MADD domain containing 3							165.0	163.0	164.0					8																	142175310		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142175310C>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1235C>A	8.37:g.142175310C>A	ENSP00000262585:p.Ser412Tyr					DENND3_ENST00000424248.1_Missense_Mutation_p.S360Y|DENND3_ENST00000262585.2_Missense_Mutation_p.S412Y	p.S492Y			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		11	1545	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		412					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1475C>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.334632|4.334632	0.81801|0.81801	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|T;T;T	.|0.45668	.|0.89;0.89;0.89	5.42|5.42	5.42|5.42	0.78866|0.78866	.|dDENN (3);	.|0.308879	.|0.38005	.|N	.|0.001852	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.60575	.|0.988;0.973;0.978	.|P;P;P	.|0.60789	.|0.879;0.691;0.794	T|T	0.61158|0.61158	-0.7119|-0.7119	5|10	.|0.72032	.|D	.|0.01	-9.3683|-9.3683	19.2243|19.2243	0.93812|0.93812	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|492;360;412	.|E9PF32;A2RUS2-2;A2RUS2	.|.;.;DEND3_HUMAN	L|Y	416|412;360;492	.|ENSP00000262585:S412Y;ENSP00000410594:S360Y;ENSP00000428714:S492Y	.|ENSP00000262585:S412Y	F|S	+|+	3|2	2|0	DENND3|DENND3	142244492|142244492	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.732000|0.732000	0.41865|0.41865	5.478000|5.478000	0.66806|0.66806	2.539000|2.539000	0.85634|0.85634	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.557	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		40	50	1	0	3.43241e-23	1	4.54183e-23	40	50				
JAK2	3717	broad.mit.edu	37	9	5050723	5050723	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050723C>A	ENST00000381652.3	+	6	1000	c.506C>A	c.(505-507)cCt>cAt	p.P169H	JAK2_ENST00000544510.1_Missense_Mutation_p.P20H|JAK2_ENST00000539801.1_Missense_Mutation_p.P169H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	169	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATAAAAGTACCTGTGACTCAT	0.378		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(505-507)cCt>cAt		Janus kinase 2							153.0	160.0	157.0					9																	5050723		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5050723C>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.506C>A	9.37:g.5050723C>A	ENSP00000371067:p.Pro169His					JAK2_ENST00000539801.1_Missense_Mutation_p.P169H|JAK2_ENST00000544510.1_Missense_Mutation_p.P20H	p.P169H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	6	1000	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	169			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.506C>A	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689495	0.88735	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.57107	1.14;1.14;0.42	4.69	4.69	0.59074	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.104694	0.64402	D	0.000002	T	0.64080	0.2566	M	0.65975	2.015	0.80722	D	1	D	0.58620	0.983	P	0.52758	0.708	T	0.68269	-0.5453	10	0.51188	T	0.08	-12.0157	17.6399	0.88132	0.0:1.0:0.0:0.0	.	169	O60674	JAK2_HUMAN	H	169;169;20	ENSP00000440387:P169H;ENSP00000371067:P169H;ENSP00000443103:P20H	ENSP00000371067:P169H	P	+	2	0	JAK2	5040723	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.414000	0.80117	2.158000	0.67659	0.462000	0.41574	CCT		0.378	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			6	50	1	0	3.59834e-05	1	4.01776e-05	6	50				
SULT1B1	27284	broad.mit.edu	37	4	70596338	70596338	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70596338A>C	ENST00000310613.3	-	7	956	c.659T>G	c.(658-660)aTc>aGc	p.I220S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTATCCAAGATCTCATCATT	0.358																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(658-660)aTc>aGc		sulfotransferase family, cytosolic, 1B, member 1							159.0	146.0	150.0					4																	70596338		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596338A>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.659T>G	4.37:g.70596338A>C	ENSP00000308770:p.Ile220Ser						p.I220S	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			7	956	-			220					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.659T>G	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350190	0.24512	.	.	ENSG00000173597	ENST00000310613	T	0.81163	-1.46	4.09	1.6	0.23607	Sulfotransferase domain (1);	0.896444	0.09311	N	0.819577	T	0.73674	0.3617	L	0.50333	1.59	0.09310	N	1	B	0.24483	0.104	B	0.26864	0.074	T	0.60078	-0.7333	10	0.33940	T	0.23	.	7.0045	0.24828	0.7727:0.0:0.2273:0.0	.	220	O43704	ST1B1_HUMAN	S	220	ENSP00000308770:I220S	ENSP00000308770:I220S	I	-	2	0	SULT1B1	70630927	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	0.977000	0.29475	0.573000	0.29400	0.383000	0.25322	ATC		0.358	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		5	30	0	0	0	1	0	5	30				
MAP3K19	80122	broad.mit.edu	37	2	135756467	135756467	+	Missense_Mutation	SNP	G	G	A	rs141899370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135756467G>A	ENST00000375845.3	-	5	445	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R156W	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	139							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ACTAAGGGCCGCATGGTCAGC	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19254	0.0		0.0	False		,,,				2504	0.0					ENST00000375845.3																			0											c.(415-417)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 19		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	86.0	85.0	85.0		415,415	-1.7	0.0	2	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	YSK4	NM_001018046.1,NM_025052.3	101,101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	139/511,139/1329	135756467	3,13003	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135756467G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.415C>T	2.37:g.135756467G>A	ENSP00000365005:p.Arg139Trp					MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R156W|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R139W|MAP3K19_ENST00000315513.3_5'UTR	p.R139W	NM_025052.3	NP_079328.3					5	445	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.415C>T	CCDS2176.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.97	2.397049	0.42512	0.0	3.49E-4	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.72505	-0.65;-0.66;-0.65;-0.53;1.72	5.05	-1.7	0.08159	.	2.389870	0.02289	N	0.070117	T	0.59280	0.2182	L	0.36672	1.1	0.09310	N	0.999999	P;D;P;D;P;D	0.67145	0.912;0.993;0.947;0.996;0.947;0.995	B;B;B;B;B;B	0.44315	0.17;0.436;0.319;0.436;0.319;0.446	T	0.53556	-0.8422	10	0.66056	D	0.02	.	0.8721	0.01216	0.1802:0.2962:0.2464:0.2772	.	139;139;139;156;139;139	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	W	139;139;139;139;156	ENSP00000365005:R139W;ENSP00000365004:R139W;ENSP00000376650:R139W;ENSP00000376649:R139W;ENSP00000376647:R156W	ENSP00000365004:R139W	R	-	1	2	YSK4	135472937	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.266000	0.08631	-0.187000	0.10516	0.655000	0.94253	CGG		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		28	40	0	0	0	1	0	28	40				
DGKB	1607	broad.mit.edu	37	7	14797357	14797357	+	Splice_Site	SNP	C	C	T	rs192296430		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14797357C>T	ENST00000403951.2	-	3	490		c.e3-1		DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000444700.2_Splice_Site|DGKB_ENST00000258767.5_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000402815.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTTGTAGAATCTATAAAAAAC	0.323																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e3-1		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						51.0	50.0	50.0					7																	14797357		1797	4065	5862	SO:0001630	splice_region_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14797357C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.71-1G>A	7.37:g.14797357C>T						DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000402815.1_Splice_Site|DGKB_ENST00000258767.5_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000444700.2_Splice_Site				Q9Y6T7	DGKB_HUMAN			3	490	-								A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Splice_Site	SNP	ENST00000403951.2	37		CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077539	0.76528	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1137	0.89543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKB	14763882	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.700000	0.68318	2.562000	0.86427	0.650000	0.86243	.		0.323	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	Intron	14	44	0	0	0	1	0	14	44				
ANKRD34B	340120	broad.mit.edu	37	5	79855332	79855332	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79855332C>T	ENST00000338682.3	-	5	1179	c.507G>A	c.(505-507)atG>atA	p.M169I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	169						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCACAGGAGGCATATTTAAGT	0.438																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(505-507)atG>atA		ankyrin repeat domain 34B							207.0	195.0	199.0					5																	79855332		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855332C>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.507G>A	5.37:g.79855332C>T	ENSP00000339802:p.Met169Ile						p.M169I	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1179	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	169					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.507G>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	1.475	-0.558712	0.03967	.	.	ENSG00000189127	ENST00000338682	T	0.18338	2.22	5.82	4.96	0.65561	.	0.137802	0.47455	U	0.000232	T	0.11750	0.0286	L	0.38175	1.15	0.35153	D	0.769928	B	0.13594	0.008	B	0.06405	0.002	T	0.17531	-1.0366	10	0.10636	T	0.68	-8.4485	8.535	0.33357	0.1521:0.7707:0.0:0.0771	.	169	A5PLL1	AN34B_HUMAN	I	169	ENSP00000339802:M169I	ENSP00000339802:M169I	M	-	3	0	ANKRD34B	79891088	0.983000	0.35010	1.000000	0.80357	0.053000	0.15095	0.230000	0.17852	1.461000	0.47929	0.655000	0.94253	ATG		0.438	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		51	96	0	0	0	1	0	51	96				
PLOD1	5351	broad.mit.edu	37	1	12025566	12025566	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12025566C>T	ENST00000196061.4	+	14	1527	c.1500C>T	c.(1498-1500)caC>caT	p.H500H	PLOD1_ENST00000376369.3_Silent_p.H547H	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	500					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCAACCGGCACACCCTTGGCC	0.667																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1498-1500)caC>caT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						117.0	92.0	101.0					1																	12025566		2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12025566C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1500C>T	1.37:g.12025566C>T						PLOD1_ENST00000376369.3_Silent_p.H547H	p.H500H	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	14	1527	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	500					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.1500C>T	CCDS142.1																																																																																				0.667	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		21	27	0	0	0	1	0	21	27				
KANK2	25959	broad.mit.edu	37	19	11280725	11280725	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11280725C>T	ENST00000586659.1	-	11	2725	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H	KANK2_ENST00000432929.2_Splice_Site_p.R812H|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000355150.5_Splice_Site_p.R804H|KANK2_ENST00000589359.1_Splice_Site_p.R812H|KANK2_ENST00000589894.1_Splice_Site_p.R804H			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	804	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAGACTCACGCGATCTGTGAG	0.642																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e11+1		KN motif and ankyrin repeat domains 2							96.0	94.0	94.0					19																	11280725		2203	4300	6503	SO:0001630	splice_region_variant	25959							g.chr19:11280725C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2412+1G>A	19.37:g.11280725C>T						KANK2_ENST00000589894.1_Splice_Site_p.R804_splice|KANK2_ENST00000589359.1_Splice_Site_p.R812_splice|KANK2_ENST00000586659.1_Splice_Site_p.R804_splice|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000355150.5_Splice_Site_p.R804_splice	p.R812_splice	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			11	2795	-			804					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Splice_Site	SNP	ENST00000586659.1	37	c.2436_splice	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360474	0.24598	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.53423	0.62;0.62	5.29	1.71	0.24356	Ankyrin repeat-containing domain (3);	0.141241	0.46145	D	0.000307	T	0.19765	0.0475	N	0.02916	-0.46	0.40365	D	0.97928	B;B	0.18610	0.006;0.029	B;B	0.12837	0.003;0.008	T	0.03993	-1.0986	10	0.54805	T	0.06	-24.76	5.5393	0.17030	0.0:0.461:0.0:0.539	.	804;812	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	H	812;804	ENSP00000395650:R812H;ENSP00000347276:R804H	ENSP00000347276:R804H	R	-	2	0	KANK2	11141725	0.985000	0.35326	0.998000	0.56505	0.008000	0.06430	2.189000	0.42621	0.615000	0.30124	-0.266000	0.10368	CGC		0.642	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493	Missense_Mutation	28	51	0	0	0	1	0	28	51				
FBXO17	115290	broad.mit.edu	37	19	39433383	39433383	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433383G>A	ENST00000292852.4	-	6	1043	c.702C>T	c.(700-702)caC>caT	p.H234H	CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.R139C|SARS2_ENST00000448145.2_Silent_p.H69H|FBXO17_ENST00000595329.1_Silent_p.H234H	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	234	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGGTGAAGACGTGGGAGACCT	0.602																																						ENST00000599996.1																			0											c.(415-417)Cgt>Tgt									80.0	72.0	75.0					19																	39433383		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:39433383G>A	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.702C>T	19.37:g.39433383G>A						FBXO17_ENST00000595329.1_Silent_p.H234H|SARS2_ENST00000448145.2_Silent_p.H69H|FBXO17_ENST00000292852.4_Silent_p.H234H	p.R139C							5	414	-								Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.415C>T	CCDS12526.1																																																																																				0.602	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		5	43	0	0	0	1	0	5	43				
LAMA4	3910	broad.mit.edu	37	6	112499372	112499372	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112499372G>A	ENST00000230538.7	-	10	1537	c.1140C>T	c.(1138-1140)caC>caT	p.H380H	LAMA4_ENST00000389463.4_Silent_p.H373H|LAMA4_ENST00000522006.1_Silent_p.H373H|LAMA4_ENST00000424408.2_Silent_p.H373H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	380	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCTGACTTGCGTGGTTAATGG	0.373																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1138-1140)caC>caT		laminin, alpha 4							185.0	164.0	171.0					6																	112499372		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112499372G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1140C>T	6.37:g.112499372G>A						LAMA4_ENST00000389463.4_Silent_p.H373H|LAMA4_ENST00000424408.2_Silent_p.H373H|LAMA4_ENST00000522006.1_Silent_p.H373H	p.H380H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	10	1537	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	380			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1140C>T	CCDS43491.1																																																																																				0.373	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		28	53	0	0	0	1	0	28	53				
ESYT2	57488	broad.mit.edu	37	7	158529800	158529800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158529800G>A	ENST00000251527.5	-	19	2484	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	ESYT2_ENST00000435514.2_Missense_Mutation_p.R242W	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	835	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTTCCTGACCGCCTCTTGTCT	0.443																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(2419-2421)Cgg>Tgg		extended synaptotagmin-like protein 2							185.0	162.0	170.0					7																	158529800		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158529800G>A	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2419C>T	7.37:g.158529800G>A	ENSP00000251527:p.Arg807Trp					ESYT2_ENST00000435514.2_Missense_Mutation_p.R242W	p.R807W	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			19	2484	-			835			C2 3.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.2419C>T	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130828	0.56828	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514	T;T;T	0.09163	3.01;3.01;3.01	4.83	2.51	0.30379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	M	0.70903	2.155	0.53688	D	0.999979	D;B	0.89917	1.0;0.022	D;B	0.97110	1.0;0.058	T	0.00724	-1.1593	10	0.54805	T	0.06	-11.3405	12.2119	0.54383	0.0:0.0:0.4966:0.5034	.	807;835	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	W	807;856;798;242	ENSP00000251527:R807W;ENSP00000275418:R798W;ENSP00000411488:R242W	ENSP00000251527:R807W	R	-	1	2	ESYT2	158222561	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.330000	0.43885	0.248000	0.21435	0.655000	0.94253	CGG		0.443	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		6	161	0	0	0	1	0	6	161				
ACTL10	170487	broad.mit.edu	37	20	32255536	32255536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32255536C>T	ENST00000330271.4	+	1	1233	c.233C>T	c.(232-234)aCa>aTa	p.T78I	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	78																	AAGGCCATCACACATCTCAAG	0.672																																						ENST00000330271.4																			0											c.(232-234)aCa>aTa		actin-like 10							46.0	41.0	42.0					20																	32255536		2198	4295	6493	SO:0001583	missense	170487							g.chr20:32255536C>T	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.233C>T	20.37:g.32255536C>T	ENSP00000329647:p.Thr78Ile					NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	p.T78I	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN			1	1233	+			78					B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	c.233C>T	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270511	0.59540	.	.	ENSG00000182584	ENST00000330271	T	0.08370	3.1	4.9	4.9	0.64082	.	0.000000	0.46442	D	0.000286	T	0.22513	0.0543	L	0.52759	1.655	0.42490	D	0.992891	D	0.89917	1.0	D	0.77557	0.99	T	0.00193	-1.1934	10	0.87932	D	0	-10.1278	13.3787	0.60754	0.0:0.8407:0.1593:0.0	.	78	Q5JWF8	CT134_HUMAN	I	78	ENSP00000329647:T78I	ENSP00000329647:T78I	T	+	2	0	C20orf134	31719197	0.197000	0.23362	1.000000	0.80357	0.107000	0.19398	0.417000	0.21214	2.547000	0.85894	0.561000	0.74099	ACA		0.672	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1			12	15	0	0	0	1	0	12	15				
OR2J3	442186	broad.mit.edu	37	6	29079850	29079850	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079850A>C	ENST00000377169.1	+	1	183	c.183A>C	c.(181-183)ccA>ccC	p.P61P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCACACACCAATGTACTTCT	0.458																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(181-183)ccA>ccC		olfactory receptor, family 2, subfamily J, member 3							275.0	288.0	284.0					6																	29079850		1356	2640	3996	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079850A>C		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.183A>C	6.37:g.29079850A>C							p.P61P	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	183	+			61					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.183A>C	CCDS43433.1																																																																																				0.458	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			11	227	0	0	0	1	0	11	227				
ZNF425	155054	broad.mit.edu	37	7	148809279	148809279	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809279G>T	ENST00000378061.2	-	3	386	c.254C>A	c.(253-255)cCt>cAt	p.P85H	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	85					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCATCAGTAGGAGGGCTAGT	0.373																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(253-255)cCt>cAt		zinc finger protein 425							258.0	224.0	236.0					7																	148809279		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148809279G>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.254C>A	7.37:g.148809279G>T	ENSP00000367300:p.Pro85His					ZNF425_ENST00000484196.1_5'UTR	p.P85H	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	386	-	Melanoma(164;0.15)		85					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.254C>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624178	0.28889	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.07216	3.21;4.97	3.26	-0.232	0.13082	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P	0.39782	0.688	B	0.26094	0.066	T	0.42361	-0.9456	9	0.44086	T	0.13	.	5.989	0.19450	0.0:0.4813:0.3359:0.1827	.	85	Q6IV72	ZN425_HUMAN	H	85;107	ENSP00000367300:P85H;ENSP00000420379:P107H	ENSP00000367300:P85H	P	-	2	0	ZNF425	148440212	0.001000	0.12720	0.001000	0.08648	0.060000	0.15804	0.203000	0.17315	0.083000	0.17047	0.650000	0.86243	CCT		0.373	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		10	189	1	0	0.000442599	1	0.00048047	10	189				
TSPYL2	64061	broad.mit.edu	37	X	53114479	53114479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53114479G>T	ENST00000375442.4	+	5	1346	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	405					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGATAAAGAGAAAGAAGCAA	0.438																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(1213-1215)aGa>aTa		TSPY-like 2							104.0	101.0	102.0					X																	53114479		2203	4300	6503	SO:0001583	missense	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53114479G>T	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1214G>T	X.37:g.53114479G>T	ENSP00000364591:p.Arg405Ile						p.R405I	NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			5	1346	+			405					O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	c.1214G>T	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177021	0.38413	.	.	ENSG00000184205	ENST00000375442	T	0.27256	1.68	3.57	2.7	0.31948	.	0.158180	0.30134	N	0.010338	T	0.30947	0.0781	L	0.29908	0.895	0.40057	D	0.975842	D	0.61697	0.99	D	0.66497	0.944	T	0.09952	-1.0651	10	0.87932	D	0	-27.6563	5.7973	0.18394	0.148:0.0:0.852:0.0	.	405	Q9H2G4	TSYL2_HUMAN	I	405	ENSP00000364591:R405I	ENSP00000364591:R405I	R	+	2	0	TSPYL2	53131204	0.629000	0.27146	0.983000	0.44433	0.488000	0.33401	0.277000	0.18734	0.880000	0.35969	0.513000	0.50165	AGA		0.438	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		4	33	1	0	0.00909568	1	0.00947522	4	33				
ZNF43	7594	broad.mit.edu	37	19	21991967	21991967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21991967C>T	ENST00000354959.4	-	4	1041	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	ZNF43_ENST00000594012.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.C285Y	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGCTTTGGCACATTCTTTACA	0.358																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(853-855)tGt>tAt		zinc finger protein 43							50.0	53.0	52.0					19																	21991967		2203	4295	6498	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991967C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.872G>A	19.37:g.21991967C>T	ENSP00000347045:p.Cys291Tyr					ZNF43_ENST00000598381.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.C291Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.C285Y	p.C285Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1368	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	291					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.854G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114740	0.37339	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.58652	0.32	1.47	0.284	0.15701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76630	0.4014	M	0.92219	3.285	0.35886	D	0.829305	D	0.89917	1.0	D	0.97110	1.0	T	0.77127	-0.2702	9	0.66056	D	0.02	.	6.6702	0.23064	0.0:0.8251:0.0:0.1749	.	291	P17038	ZNF43_HUMAN	Y	290;291	ENSP00000347045:C291Y	ENSP00000347045:C291Y	C	-	2	0	ZNF43	21783807	0.990000	0.36364	0.008000	0.14137	0.015000	0.08874	2.576000	0.46033	-0.052000	0.13311	-0.450000	0.05554	TGT		0.358	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		9	55	0	0	0	1	0	9	55				
STXBP5L	9515	broad.mit.edu	37	3	121126116	121126116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126116G>A	ENST00000273666.6	+	24	2957	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	STXBP5L_ENST00000492541.1_Missense_Mutation_p.V896M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V872M|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V872M|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V870M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	896					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAGGAGCTGTGCTAACATT	0.363																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2686-2688)Gtg>Atg		syntaxin binding protein 5-like							58.0	56.0	57.0					3																	121126116		1842	4094	5936	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126116G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2686G>A	3.37:g.121126116G>A	ENSP00000273666:p.Val896Met					STXBP5L_ENST00000471454.1_Missense_Mutation_p.V872M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V896M|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V870M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V872M	p.V896M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	2957	+			896					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2686G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564160	0.65651	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.50548	0.74;0.74;1.97;1.97;1.97;0.74	4.96	4.96	0.65561	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	L	0.46670	1.46	0.58432	D	0.999999	D;D	0.89917	0.986;1.0	D;D	0.91635	0.93;0.999	T	0.60469	-0.7257	10	0.59425	D	0.04	-11.166	11.8232	0.52252	0.0797:0.0:0.9203:0.0	.	872;896	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	M	896;872;872;870;896;839	ENSP00000273666:V896M;ENSP00000420019:V872M;ENSP00000419627:V872M;ENSP00000420287:V870M;ENSP00000420666:V896M;ENSP00000420167:V839M	ENSP00000273666:V896M	V	+	1	0	STXBP5L	122608806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.591000	0.87537	0.555000	0.69702	GTG		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			21	47	0	0	0	1	0	21	47				
KIAA1549L	25758	broad.mit.edu	37	11	33566375	33566375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33566375A>G	ENST00000321505.4	+	2	2125	c.1945A>G	c.(1945-1947)Aaa>Gaa	p.K649E	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.K655E|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K655E			Q6ZVL6	K154L_HUMAN	KIAA1549-like	649						integral component of membrane (GO:0016021)											GTTTCTGAGGAAATCAAGTCC	0.517																																						ENST00000321505.4																			0											c.(1945-1947)Aaa>Gaa		KIAA1549-like							42.0	44.0	43.0					11																	33566375		2049	4195	6244	SO:0001583	missense	25758							g.chr11:33566375A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1945A>G	11.37:g.33566375A>G	ENSP00000315295:p.Lys649Glu					KIAA1549L_ENST00000265654.5_Missense_Mutation_p.K655E|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K655E	p.K649E							2	2125	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1945A>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	a	9.831	1.188526	0.21954	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	4.87	3.71	0.42584	.	0.219171	0.31963	N	0.006783	T	0.36496	0.0969	M	0.67953	2.075	0.21782	N	0.999543	P;B	0.43094	0.799;0.421	B;B	0.37650	0.255;0.254	T	0.19647	-1.0299	9	0.18276	T	0.48	-2.0702	10.37	0.44049	0.8353:0.1646:0.0:0.0	.	655;655	E9PAT2;Q6ZVL6-2	.;.	E	649;655;655;489	.	ENSP00000265654:K655E	K	+	1	0	C11orf41	33522951	1.000000	0.71417	0.062000	0.19696	0.073000	0.16967	4.085000	0.57657	0.697000	0.31718	0.439000	0.28862	AAA		0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		11	17	0	0	0	1	0	11	17				
SLC2A1	6513	broad.mit.edu	37	1	43396878	43396878	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43396878C>A	ENST00000426263.3	-	3	293		c.e3-1		SLC2A1_ENST00000475162.1_5'Flank|SLC2A1_ENST00000415851.2_Splice_Site|SLC2A1_ENST00000372500.3_Splice_Site	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCTCGATCACCTGCAGGGGGA	0.622											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.e3-1		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						81.0	69.0	73.0					1																	43396878		2203	4300	6503	SO:0001630	splice_region_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396878C>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.115-1G>T	1.37:g.43396878C>A			OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916	SLC2A1_ENST00000415851.2_Splice_Site|SLC2A1_ENST00000372500.3_Splice_Site		NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			3	293	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)						A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Splice_Site	SNP	ENST00000426263.3	37		CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118987	0.56505	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000415851;ENST00000372500	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3108	0.82869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC2A1	43169465	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	7.739000	0.84976	2.440000	0.82611	0.462000	0.41574	.		0.622	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516	Intron	4	23	1	0	0.150653	1	0.152692	4	23				
DENND4B	9909	broad.mit.edu	37	1	153909042	153909042	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153909042G>A	ENST00000361217.4	-	16	2833	c.2415C>T	c.(2413-2415)agC>agT	p.S805S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	805					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACCTTGCCGCTCTCCATCT	0.607																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2413-2415)agC>agT		DENN/MADD domain containing 4B							53.0	56.0	55.0					1																	153909042		2119	4242	6361	SO:0001819	synonymous_variant	9909							g.chr1:153909042G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2415C>T	1.37:g.153909042G>A							p.S805S	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2833	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		805					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2415C>T	CCDS44228.1																																																																																				0.607	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		8	9	0	0	0	1	0	8	9				
TCEANC	170082	broad.mit.edu	37	X	13680768	13680768	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13680768T>C	ENST00000380600.1	+	2	228	c.141T>C	c.(139-141)gaT>gaC	p.D47D	TCEANC_ENST00000545566.1_Silent_p.D47D|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000314720.4_Silent_p.D77D|TCEANC_ENST00000544987.1_Silent_p.D47D			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	47	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGGAGACAGATGTGGTCAGAG	0.428																																						ENST00000380600.1																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						c.(139-141)gaT>gaC		transcription elongation factor A (SII) N-terminal and central domain containing							90.0	84.0	86.0					X																	13680768		1922	4120	6042	SO:0001819	synonymous_variant	170082				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:13680768T>C		CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.141T>C	X.37:g.13680768T>C						TCEANC_ENST00000314720.4_Silent_p.D77D|TCEANC_ENST00000544987.1_Silent_p.D47D|TCEANC_ENST00000545566.1_Silent_p.D47D|TCEANC_ENST00000490617.1_3'UTR	p.D47D			Q8N8B7	TEANC_HUMAN			2	228	+			47			TFIIS N-terminal.		A6NI06|B2RDM3	Silent	SNP	ENST00000380600.1	37	c.141T>C																																																																																					0.428	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		8	78	0	0	0	1	0	8	78				
COL2A1	1280	broad.mit.edu	37	12	48374399	48374399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48374399C>T	ENST00000380518.3	-	39	2727	c.2563G>A	c.(2563-2565)Ggc>Agc	p.G855S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G786S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	855	Triple-helical region.		G -> S (in SEDC).		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTTTCTGGCCGGCCTCTCCT	0.617																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2563-2565)Ggc>Agc		collagen, type II, alpha 1	Collagenase(DB00048)						33.0	32.0	33.0					12																	48374399		2203	4299	6502	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48374399C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2563G>A	12.37:g.48374399C>T	ENSP00000369889:p.Gly855Ser					COL2A1_ENST00000337299.6_Missense_Mutation_p.G786S|COL2A1_ENST00000493991.1_5'UTR	p.G855S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			39	2727	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	855		G -> S (in SEDC).	Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2563G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840836	0.91197	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99607	-6.27;-6.27	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96687	0.9508	10	0.87932	D	0	.	18.9167	0.92508	0.0:1.0:0.0:0.0	.	786;855	P02458-1;P02458	.;CO2A1_HUMAN	S	855;786;786	ENSP00000369889:G855S;ENSP00000338213:G786S	ENSP00000338213:G786S	G	-	1	0	COL2A1	46660666	1.000000	0.71417	0.963000	0.40424	0.945000	0.59286	7.818000	0.86416	2.573000	0.86826	0.655000	0.94253	GGC		0.617	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		5	6	0	0	0	1	0	5	6				
CDKL5	6792	broad.mit.edu	37	X	18643246	18643246	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18643246A>G	ENST00000379989.3	+	18	2661		c.e18-1		CDKL5_ENST00000379996.3_Splice_Site	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5						neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ATTTTGCTCTAGGTACCCAAT	0.458																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.e18-1		cyclin-dependent kinase-like 5							126.0	111.0	116.0					X																	18643246		2203	4300	6503	SO:0001630	splice_region_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18643246A>G	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2377-1A>G	X.37:g.18643246A>G						CDKL5_ENST00000379996.3_Splice_Site		NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			18	2661	+	Hepatocellular(33;0.183)							G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Splice_Site	SNP	ENST00000379989.3	37		CCDS14186.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939054	0.52972	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4637	0.75381	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDKL5	18553167	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	6.414000	0.73318	2.036000	0.60181	0.486000	0.48141	.		0.458	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	Intron	15	140	0	0	0	1	0	15	140				
HERC1	8925	broad.mit.edu	37	15	63944624	63944624	+	Silent	SNP	C	C	T	rs369327928		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63944624C>T	ENST00000443617.2	-	52	10494	c.10407G>A	c.(10405-10407)gtG>gtA	p.V3469V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3469					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCTGTTGAACACACAGGTCT	0.383																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(10405-10407)gtG>gtA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1		C		0,3906		0,0,1953	125.0	118.0	120.0		10407	-0.5	1.0	15		120	1,8275		0,1,4137	no	coding-synonymous	HERC1	NM_003922.3		0,1,6090	TT,TC,CC		0.0121,0.0,0.0082		3469/4862	63944624	1,12181	1953	4138	6091	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63944624C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10407G>A	15.37:g.63944624C>T							p.V3469V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			52	10494	-			3469					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.10407G>A	CCDS45277.1																																																																																				0.383	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		10	14	0	0	0	1	0	10	14				
KDM5B	10765	broad.mit.edu	37	1	202718086	202718086	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202718086G>T	ENST00000367265.3	-	14	3167	c.2003C>A	c.(2002-2004)aCt>aAt	p.T668N	KDM5B_ENST00000367264.2_Missense_Mutation_p.T704N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	668					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTACGGACAGTTTCTCTTAA	0.358																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2002-2004)aCt>aAt		lysine (K)-specific demethylase 5B							103.0	100.0	101.0					1																	202718086		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202718086G>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2003C>A	1.37:g.202718086G>T	ENSP00000356234:p.Thr668Asn					KDM5B_ENST00000367264.2_Missense_Mutation_p.T704N	p.T668N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			14	3167	-			668					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2003C>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905475	0.33628	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.85484	-1.88;-1.7;-1.99	5.81	3.96	0.45880	.	0.304390	0.40222	N	0.001153	T	0.69797	0.3151	N	0.12182	0.205	0.28957	N	0.890076	B;B	0.10296	0.003;0.001	B;B	0.14023	0.01;0.004	T	0.58797	-0.7573	10	0.27785	T	0.31	-6.4075	8.1345	0.31046	0.1391:0.0:0.7249:0.136	.	704;668	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	668;510;704;510;37	ENSP00000356234:T668N;ENSP00000356233:T704N;ENSP00000235790:T510N	ENSP00000235790:T510N	T	-	2	0	KDM5B	200984709	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.385000	0.52485	0.816000	0.34421	0.557000	0.71058	ACT		0.358	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		46	46	1	0	4.10826e-27	1	5.47827e-27	46	46				
RNF213	57674	broad.mit.edu	37	17	78237505	78237505	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78237505G>A	ENST00000582970.1	+	2	168	c.25G>A	c.(25-27)Gtc>Atc	p.V9I	RNF213_ENST00000319921.4_Missense_Mutation_p.V9I|RNF213_ENST00000456466.1_Missense_Mutation_p.V9I|RNF213_ENST00000508628.2_Missense_Mutation_p.V9I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	9					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCCAGCATGTCTCCAAGGA	0.612																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(25-27)Gtc>Atc		ring finger protein 213							71.0	69.0	69.0					17																	78237505		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78237505G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.25G>A	17.37:g.78237505G>A	ENSP00000464087:p.Val9Ile					RNF213_ENST00000508628.2_Missense_Mutation_p.V9I|RNF213_ENST00000456466.1_Missense_Mutation_p.V9I|RNF213_ENST00000319921.4_Missense_Mutation_p.V9I	p.V9I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		2	168	+	all_neural(118;0.0538)		9					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.25G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219333	0.22373	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T	0.25085	1.82	4.01	0.405	0.16361	.	.	.	.	.	T	0.11922	0.0290	N	0.16478	0.41	0.27572	N	0.949859	P	0.35507	0.506	B	0.35413	0.202	T	0.27468	-1.0073	9	0.11182	T	0.66	.	5.3932	0.16255	0.4465:0.0:0.5535:0.0	.	9	Q9HCF4-2	.	I	9	ENSP00000425956:V9I	ENSP00000324392:V9I	V	+	1	0	RNF213	75852100	0.001000	0.12720	0.043000	0.18650	0.090000	0.18270	-0.283000	0.08433	0.297000	0.22615	0.563000	0.77884	GTC		0.612	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		31	46	0	0	0	1	0	31	46				
ZNF160	90338	broad.mit.edu	37	19	53572973	53572973	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53572973G>T	ENST00000429604.1	-	7	1229	c.814C>A	c.(814-816)Ctt>Att	p.L272I	ZNF160_ENST00000601421.1_Missense_Mutation_p.L236I|ZNF160_ENST00000599056.1_Missense_Mutation_p.L272I|ZNF160_ENST00000418871.1_Missense_Mutation_p.L272I	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	272					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGACTTGTAAGGTTCGAATTC	0.378																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(706-708)Ctt>Att		zinc finger protein 160							141.0	134.0	136.0					19																	53572973		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572973G>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.814C>A	19.37:g.53572973G>T	ENSP00000406201:p.Leu272Ile					ZNF160_ENST00000418871.1_Missense_Mutation_p.L272I|ZNF160_ENST00000599056.1_Missense_Mutation_p.L272I|ZNF160_ENST00000429604.1_Missense_Mutation_p.L272I	p.L236I			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1582	-			272					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.706C>A	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911705	0.33721	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.53857	0.6;0.6	2.47	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69540	0.3122	M	0.82132	2.575	0.18873	N	0.999985	P	0.49358	0.923	D	0.68943	0.961	T	0.56914	-0.7900	9	0.72032	D	0.01	.	8.207	0.31461	0.1331:0.0:0.8669:0.0	.	272	Q9HCG1	ZN160_HUMAN	I	272	ENSP00000406201:L272I;ENSP00000409597:L272I	ENSP00000409597:L272I	L	-	1	0	ZNF160	58264785	0.008000	0.16893	0.001000	0.08648	0.017000	0.09413	0.458000	0.21892	0.354000	0.24105	0.561000	0.74099	CTT		0.378	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		8	130	1	0	9.70103e-10	1	1.18443e-09	8	130				
GPHN	10243	broad.mit.edu	37	14	67579789	67579789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67579789C>T	ENST00000315266.5	+	15	2549	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	GPHN_ENST00000478722.1_Silent_p.H509H|GPHN_ENST00000305960.9_Silent_p.H445H|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.H522H	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	476	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGGAACCCACATGGGCCCCT	0.463			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1525-1527)caC>caT		gephyrin							88.0	84.0	86.0					14																	67579789		2203	4300	6503	SO:0001819	synonymous_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67579789C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1428C>T	14.37:g.67579789C>T						GPHN_ENST00000543237.1_Silent_p.H522H|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.H445H|GPHN_ENST00000315266.5_Silent_p.H476H	p.H509H	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	16	2648	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	476			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	c.1527C>T	CCDS32103.1																																																																																				0.463	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		37	31	0	0	0	1	0	37	31				
ALPK2	115701	broad.mit.edu	37	18	56196431	56196431	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56196431G>T	ENST00000361673.3	-	6	5606	c.5393C>A	c.(5392-5394)cCt>cAt	p.P1798H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1798	Ig-like 2.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAGTGTTCAGGGAACATCTC	0.363																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5392-5394)cCt>cAt		alpha-kinase 2							110.0	106.0	108.0					18																	56196431		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56196431G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5393C>A	18.37:g.56196431G>T	ENSP00000354991:p.Pro1798His						p.P1798H	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			6	5606	-			1798			Ig-like 2.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5393C>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041506	0.75732	.	.	ENSG00000198796	ENST00000361673	T	0.51817	0.69	5.44	5.44	0.79542	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70561	0.3238	M	0.76002	2.32	0.46458	D	0.999055	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73748	-0.3885	10	0.87932	D	0	-16.775	18.855	0.92247	0.0:0.0:1.0:0.0	.	1793;1798	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	H	1798	ENSP00000354991:P1798H	ENSP00000354991:P1798H	P	-	2	0	ALPK2	54347411	1.000000	0.71417	0.939000	0.37840	0.994000	0.84299	6.212000	0.72188	2.549000	0.85964	0.655000	0.94253	CCT		0.363	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		35	53	1	0	2.09667e-21	1	2.75882e-21	35	53				
ZNF280C	55609	broad.mit.edu	37	X	129370553	129370553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129370553G>T	ENST00000370978.4	-	7	707	c.554C>A	c.(553-555)aCt>aAt	p.T185N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	185	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTTTTTGGAGTAACACTGTT	0.343																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(553-555)aCt>aAt		zinc finger protein 280C							138.0	113.0	121.0					X																	129370553		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370553G>T	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.554C>A	X.37:g.129370553G>T	ENSP00000360017:p.Thr185Asn						p.T185N	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			7	707	-			185			Ser-rich.		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.554C>A	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.017384	0.00418	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.18960	2.18;2.18	4.09	-8.18	0.01053	.	.	.	.	.	T	0.06188	0.0160	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.35871	-0.9771	9	0.05833	T	0.94	.	13.0645	0.59025	0.0876:0.075:0.723:0.1144	.	185;185	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	N	185	ENSP00000360017:T185N;ENSP00000408521:T185N	ENSP00000066465:T185N	T	-	2	0	ZNF280C	129198234	0.001000	0.12720	0.000000	0.03702	0.201000	0.24016	-1.385000	0.02540	-3.128000	0.00237	-1.551000	0.00897	ACT		0.343	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		7	83	1	0	1.06961e-07	1	1.26574e-07	7	83				
MORN1	79906	broad.mit.edu	37	1	2318951	2318951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2318951G>A	ENST00000378531.3	-	4	438	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Nonsense_Mutation_p.Q89*	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	89										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGAACAAACTGTCCAGAGAAG	0.612																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(265-267)Cag>Tag		MORN repeat containing 1							94.0	82.0	86.0					1																	2318951		2203	4300	6503	SO:0001587	stop_gained	79906							g.chr1:2318951G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.265C>T	1.37:g.2318951G>A	ENSP00000367792:p.Gln89*					MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Nonsense_Mutation_p.Q89*	p.Q89*	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	4	438	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	89					A6NKZ6|Q8WW30|Q9H852	Nonsense_Mutation	SNP	ENST00000378531.3	37	c.265C>T	CCDS40.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925206	0.73213	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525	.	.	.	4.79	1.79	0.24919	.	0.893126	0.09405	N	0.806606	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.3426	0.07124	0.0927:0.3273:0.4115:0.1685	.	.	.	.	X	89;89;65	.	ENSP00000367786:Q65X	Q	-	1	0	MORN1	2308811	1.000000	0.71417	0.983000	0.44433	0.804000	0.45430	1.515000	0.35845	0.403000	0.25479	0.561000	0.74099	CAG		0.612	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		17	44	0	0	0	1	0	17	44				
C9orf84	158401	broad.mit.edu	37	9	114467552	114467552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114467552C>T	ENST00000318737.4	-	19	2766	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	C9orf84_ENST00000394779.3_Missense_Mutation_p.D841N|C9orf84_ENST00000394777.4_Missense_Mutation_p.D806N|C9orf84_ENST00000374287.3_Missense_Mutation_p.D880N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	880										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAGTATGTCTGGAGTATTA	0.338																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2521-2523)Gac>Aac		chromosome 9 open reading frame 84							55.0	61.0	59.0					9																	114467552		2203	4298	6501	SO:0001583	missense	158401							g.chr9:114467552C>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2638G>A	9.37:g.114467552C>T	ENSP00000322108:p.Asp880Asn					C9orf84_ENST00000318737.4_Missense_Mutation_p.D880N|C9orf84_ENST00000394777.4_Missense_Mutation_p.D806N|C9orf84_ENST00000374287.3_Missense_Mutation_p.D880N	p.D841N	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			17	2765	-			880					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2521G>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665526	0.47677	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04654	3.58;3.58;3.59;3.59	4.74	3.85	0.44370	.	0.356691	0.20115	N	0.098935	T	0.03695	0.0105	N	0.14661	0.345	0.25754	N	0.985026	B;B;B	0.32467	0.187;0.372;0.187	B;B;B	0.32677	0.058;0.15;0.106	T	0.39418	-0.9615	10	0.49607	T	0.09	-0.0951	10.8476	0.46751	0.0:0.9106:0.0:0.0894	.	806;880;841	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	N	841;806;494;880;880	ENSP00000378259:D841N;ENSP00000378257:D806N;ENSP00000363405:D880N;ENSP00000322108:D880N	ENSP00000322108:D880N	D	-	1	0	C9orf84	113507373	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	2.312000	0.43726	0.967000	0.38186	-0.142000	0.14014	GAC		0.338	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		11	43	0	0	0	1	0	11	43				
DDX60	55601	broad.mit.edu	37	4	169183841	169183841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169183841C>T	ENST00000393743.3	-	23	3428	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TACCTGGGCCCGAGGCCAACT	0.378																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(3136-3138)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							81.0	87.0	85.0					4																	169183841		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169183841C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3137G>A	4.37:g.169183841C>T	ENSP00000377344:p.Arg1046Gln					DDX60_ENST00000505393.1_5'UTR	p.R1046Q	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	23	3428	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1046					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3137G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	7.163	0.586063	0.13749	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.17691	2.26	5.2	2.26	0.28386	.	1.006310	0.07995	N	0.987767	T	0.10465	0.0256	L	0.35793	1.09	0.09310	N	1	P	0.35793	0.521	B	0.21917	0.037	T	0.26121	-1.0112	10	0.11485	T	0.65	.	7.974	0.30145	0.0:0.5965:0.0:0.4035	.	1046	Q8IY21	DDX60_HUMAN	Q	1046;138	ENSP00000377344:R1046Q	ENSP00000377344:R1046Q	R	-	2	0	DDX60	169420416	0.000000	0.05858	0.203000	0.23512	0.118000	0.20060	0.210000	0.17455	0.486000	0.27676	0.305000	0.20034	CGG		0.378	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		35	68	0	0	0	1	0	35	68				
CEP162	22832	broad.mit.edu	37	6	84865090	84865090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865090G>T	ENST00000403245.3	-	22	3035	c.2921C>A	c.(2920-2922)gCt>gAt	p.A974D	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.A898D	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTCCAGATCAGCTTCTAGCTT	0.383																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2920-2922)gCt>gAt		KIAA1009							179.0	167.0	171.0					6																	84865090		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84865090G>T																												ENST00000403245.3:c.2921C>A	6.37:g.84865090G>T	ENSP00000385215:p.Ala974Asp					KIAA1009_ENST00000257766.4_Missense_Mutation_p.A898D|KIAA1009_ENST00000461137.1_5'UTR	p.A974D	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	22	3035	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	974						Missense_Mutation	SNP	ENST00000403245.3	37	c.2921C>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170307	0.78452	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.18657	2.2;2.2	5.19	5.19	0.71726	.	0.198477	0.35407	N	0.003229	T	0.34366	0.0895	M	0.70595	2.14	0.51233	D	0.999912	D	0.59357	0.985	P	0.59546	0.859	T	0.02603	-1.1135	10	0.38643	T	0.18	-7.5374	19.0671	0.93116	0.0:0.0:1.0:0.0	.	974	Q5TB80	QN1_HUMAN	D	898;974	ENSP00000257766:A898D;ENSP00000385215:A974D	ENSP00000257766:A898D	A	-	2	0	KIAA1009	84921809	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.420000	0.80191	2.556000	0.86216	0.655000	0.94253	GCT		0.383	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			16	48	1	0	6.31663e-08	1	7.49729e-08	16	48				
ZNF441	126068	broad.mit.edu	37	19	11891085	11891085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11891085C>T	ENST00000357901.4	+	4	548	c.446C>T	c.(445-447)gCt>gTt	p.A149V	ZNF441_ENST00000454339.2_Missense_Mutation_p.A82V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGGACAGCTTTCAGTTAT	0.388																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(445-447)gCt>gTt		zinc finger protein 441							121.0	104.0	110.0					19																	11891085		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891085C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.446C>T	19.37:g.11891085C>T	ENSP00000350576:p.Ala149Val					ZNF441_ENST00000454339.2_Missense_Mutation_p.A82V	p.A149V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	548	+			149						Missense_Mutation	SNP	ENST00000357901.4	37	c.446C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431875	0.25813	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.28454	1.61;1.61	1.04	-0.171	0.13331	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.28267	0.0698	M	0.72353	2.195	0.09310	N	1	B	0.17465	0.022	B	0.17098	0.017	T	0.37103	-0.9720	9	0.59425	D	0.04	.	3.1713	0.06554	0.2987:0.4047:0.2966:0.0	.	149	Q8N8Z8	ZN441_HUMAN	V	105;149;82	ENSP00000350576:A149V;ENSP00000403738:A82V	ENSP00000350576:A149V	A	+	2	0	ZNF441	11752085	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.312000	0.01127	-0.017000	0.14103	0.305000	0.20034	GCT		0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		33	42	0	0	0	1	0	33	42				
ZFX	7543	broad.mit.edu	37	X	24228932	24228932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24228932G>T	ENST00000379177.1	+	11	2284	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D	ZFX_ENST00000304543.5_Missense_Mutation_p.E619D|ZFX_ENST00000379188.3_Missense_Mutation_p.E619D|ZFX_ENST00000338565.3_Missense_Mutation_p.E569D|ZFX_ENST00000539115.1_Missense_Mutation_p.E390D|ZFX_ENST00000540034.1_Missense_Mutation_p.E658D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	619					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATACCAAAGAGGTGCAGCAAC	0.408																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1855-1857)gaG>gaT		zinc finger protein, X-linked							117.0	98.0	105.0					X																	24228932		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228932G>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1857G>T	X.37:g.24228932G>T	ENSP00000368475:p.Glu619Asp					ZFX_ENST00000539115.1_Missense_Mutation_p.E390D|ZFX_ENST00000338565.3_Missense_Mutation_p.E569D|ZFX_ENST00000379188.3_Missense_Mutation_p.E619D|ZFX_ENST00000540034.1_Missense_Mutation_p.E658D|ZFX_ENST00000304543.5_Missense_Mutation_p.E619D	p.E619D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2284	+			619					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.1857G>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470466	0.43942	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	4.95	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.076231	0.53938	D	0.000044	T	0.15478	0.0373	N	0.19112	0.55	0.40147	D	0.976902	B;B;B	0.31968	0.017;0.349;0.008	B;P;B	0.47075	0.029;0.536;0.016	T	0.18366	-1.0339	10	0.42905	T	0.14	-0.7154	9.8068	0.40797	0.0:0.1484:0.6945:0.1571	.	658;341;619	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	D	390;619;341;619;619;658;569	ENSP00000438233:E390D;ENSP00000368486:E619D;ENSP00000368475:E619D;ENSP00000304985:E619D;ENSP00000441382:E658D;ENSP00000343384:E569D	ENSP00000304985:E619D	E	+	3	2	ZFX	24138853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.299000	0.51826	0.943000	0.37553	0.594000	0.82650	GAG		0.408	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		40	68	1	0	2.2871e-25	1	3.04084e-25	40	68				
AFF1	4299	broad.mit.edu	37	4	88036337	88036337	+	Silent	SNP	C	C	T	rs140176505	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036337C>T	ENST00000307808.6	+	11	2751	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	AFF1_ENST00000544085.1_Silent_p.P415P|AFF1_ENST00000395146.4_Silent_p.P784P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	777					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCAGCCTCCCGGGAAGGGGA	0.587													C|||	7	0.00139776	0.0053	0.0	5008	,	,		18234	0.0		0.0	False		,,,				2504	0.0					ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2329-2331)ccC>ccT		AF4/FMR2 family, member 1		C	,	10,4396	16.8+/-37.8	0,10,2193	37.0	41.0	39.0		2352,2331	-11.9	0.0	4	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF1	NM_001166693.1,NM_005935.2	,	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,	784/1219,777/1211	88036337	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036337C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2331C>T	4.37:g.88036337C>T						AFF1_ENST00000544085.1_Silent_p.P415P|AFF1_ENST00000395146.4_Silent_p.P784P	p.P777P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2751	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	777					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.2331C>T	CCDS3616.1																																																																																				0.587	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		11	22	0	0	0	1	0	11	22				
LCTL	197021	broad.mit.edu	37	15	66845562	66845562	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66845562C>T	ENST00000341509.5	-	9	1088	c.957G>A	c.(955-957)tcG>tcA	p.S319S	LCTL_ENST00000537670.1_Silent_p.S146S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	319					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGGTAACCTCGACATCTCCA	0.423																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(955-957)tcG>tcA		lactase-like							169.0	167.0	168.0					15																	66845562		2201	4299	6500	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66845562C>T	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.957G>A	15.37:g.66845562C>T						LCTL_ENST00000537670.1_Silent_p.S146S	p.S319S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			9	1088	-			319					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.957G>A	CCDS10220.1																																																																																				0.423	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		15	154	0	0	0	1	0	15	154				
NEUROD4	58158	broad.mit.edu	37	12	55420664	55420664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55420664G>T	ENST00000242994.3	+	2	819	c.441G>T	c.(439-441)caG>caT	p.Q147H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	147					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGACTGGCCAGACACCTGAAG	0.502																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(439-441)caG>caT		neuronal differentiation 4							61.0	64.0	63.0					12																	55420664		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420664G>T	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.441G>T	12.37:g.55420664G>T	ENSP00000242994:p.Gln147His						p.Q147H	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	819	+			147					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.441G>T	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950824	0.53186	.	.	ENSG00000123307	ENST00000242994	T	0.64618	-0.11	5.7	2.94	0.34122	Neurogenic differentiation factor, domain of unknown function (1);Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	L	0.57536	1.79	0.48135	D	0.999598	D	0.71674	0.998	D	0.74674	0.984	T	0.69068	-0.5243	10	0.59425	D	0.04	-28.0468	8.0423	0.30529	0.3143:0.0:0.6857:0.0	.	147	Q9HD90	NDF4_HUMAN	H	147	ENSP00000242994:Q147H	ENSP00000242994:Q147H	Q	+	3	2	NEUROD4	53706931	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.416000	0.44644	0.457000	0.26962	-0.137000	0.14449	CAG		0.502	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			23	43	1	0	5.35356e-11	1	6.64197e-11	23	43				
DLL4	54567	broad.mit.edu	37	15	41228901	41228901	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41228901G>A	ENST00000249749.5	+	9	1992	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	572					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAACTTGTCGGACTTCCAGA	0.587																																						ENST00000249749.5																			0				breast(3)|large_intestine(1)	4						c.(1714-1716)tcG>tcA		delta-like 4 (Drosophila)							52.0	58.0	56.0					15																	41228901		2081	4231	6312	SO:0001819	synonymous_variant	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41228901G>A	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1716G>A	15.37:g.41228901G>A							p.S572S	NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	1992	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	572					Q3KP23|Q9NQT9	Silent	SNP	ENST00000249749.5	37	c.1716G>A	CCDS45232.1																																																																																				0.587	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			13	25	0	0	0	1	0	13	25				
SNRPA	6626	broad.mit.edu	37	19	41265336	41265336	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41265336C>T	ENST00000243563.3	+	3	797	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	83	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			tgtTTGGTAGCGTATCCAGTA	0.532																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.e3-1		small nuclear ribonucleoprotein polypeptide A							90.0	81.0	84.0					19																	41265336		2203	4300	6503	SO:0001630	splice_region_variant	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41265336C>T	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.247-1C>T	19.37:g.41265336C>T						SNRPA_ENST00000599570.1_3'UTR	p.R83_splice	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	797	+			83			RRM 1.			Splice_Site	SNP	ENST00000243563.3	37	c.246_splice	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523663	0.64747	.	.	ENSG00000077312	ENST00000243563	T	0.07800	3.16	5.85	3.68	0.42216	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	H	0.97962	4.115	0.80722	D	1	B	0.22211	0.066	B	0.34652	0.187	T	0.10086	-1.0645	9	.	.	.	-19.0675	6.5953	0.22669	0.3293:0.5794:0.0:0.0912	.	83	P09012	SNRPA_HUMAN	C	83	ENSP00000243563:R83C	.	R	+	1	0	SNRPA	45957176	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	2.296000	0.43584	1.486000	0.48398	-0.136000	0.14681	CGT		0.532	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596	Missense_Mutation	19	45	0	0	0	1	0	19	45				
BACH2	60468	broad.mit.edu	37	6	90648063	90648063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90648063G>A	ENST00000257749.4	-	8	2550	c.1843C>T	c.(1843-1845)Ctt>Ttt	p.L615F	BACH2_ENST00000343122.3_Missense_Mutation_p.L615F|BACH2_ENST00000537989.1_Missense_Mutation_p.L615F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	615						cytoplasm (GO:0005737)|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 negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAAAGGAAGTTTTACCTGA	0.353																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1843-1845)Ctt>Ttt		BTB and CNC homology 1, basic leucine zipper transcription factor 2							65.0	63.0	64.0					6																	90648063		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90648063G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1843C>T	6.37:g.90648063G>A	ENSP00000257749:p.Leu615Phe					BACH2_ENST00000343122.3_Missense_Mutation_p.L615F|BACH2_ENST00000537989.1_Missense_Mutation_p.L615F	p.L615F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	8	2550	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	615					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1843C>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839901	0.91117	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.59772	0.24;0.24;0.24	4.68	4.68	0.58851	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.34521	1.04	0.80722	D	1	D	0.57899	0.981	P	0.53549	0.729	T	0.59547	-0.7434	10	0.87932	D	0	-18.8594	17.7945	0.88565	0.0:0.0:1.0:0.0	.	615	Q9BYV9	BACH2_HUMAN	F	615	ENSP00000257749:L615F;ENSP00000437473:L615F;ENSP00000345642:L615F	ENSP00000257749:L615F	L	-	1	0	BACH2	90704784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.611000	0.98342	2.437000	0.82529	0.563000	0.77884	CTT		0.353	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		22	30	0	0	0	1	0	22	30				
PHRF1	57661	broad.mit.edu	37	11	592614	592614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:592614A>G	ENST00000264555.5	+	6	688	c.560A>G	c.(559-561)gAg>gGg	p.E187G	PHRF1_ENST00000416188.2_Missense_Mutation_p.E187G|PHRF1_ENST00000413872.2_Missense_Mutation_p.E186G|PHRF1_ENST00000533464.1_Missense_Mutation_p.E183G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	187					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCTTCTGTGAGGTGTGCGGC	0.627																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(559-561)gAg>gGg		PHD and ring finger domains 1							140.0	161.0	154.0					11																	592614		2178	4254	6432	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:592614A>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.560A>G	11.37:g.592614A>G	ENSP00000264555:p.Glu187Gly					PHRF1_ENST00000416188.2_Missense_Mutation_p.E187G|PHRF1_ENST00000533464.1_Missense_Mutation_p.E183G|PHRF1_ENST00000413872.2_Missense_Mutation_p.E186G	p.E187G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	688	+			187					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.560A>G		.	.	.	.	.	.	.	.	.	.	A	16.50	3.140898	0.56936	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.11	2.98	0.34508	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.39475	N	0.001346	D	0.83119	0.5185	M	0.64997	1.995	0.49299	D	0.999775	B;B;B;B	0.29162	0.235;0.197;0.197;0.235	B;B;B;B	0.32465	0.146;0.09;0.09;0.146	T	0.78409	-0.2215	10	0.59425	D	0.04	-12.6582	5.075	0.14626	0.7182:0.1835:0.0983:0.0	.	183;186;187;187	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	G	187;186;187;183	ENSP00000264555:E187G;ENSP00000388589:E186G;ENSP00000410626:E187G;ENSP00000431870:E183G	ENSP00000264555:E187G	E	+	2	0	PHRF1	582614	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.532000	0.67154	0.647000	0.30713	0.533000	0.62120	GAG		0.627	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	135	0	0	0	1	0	7	135				
SUMF2	25870	broad.mit.edu	37	7	56141896	56141896	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56141896G>T	ENST00000413756.1	+	4	392	c.369G>T	c.(367-369)aaG>aaT	p.K123N	SUMF2_ENST00000437307.2_Missense_Mutation_p.K123N|SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.K142N|SUMF2_ENST00000434526.2_Missense_Mutation_p.K142N|SUMF2_ENST00000275607.9_Missense_Mutation_p.K35N|SUMF2_ENST00000395435.2_Intron			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	123					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGGAAAAGGCATTTTGGA	0.552											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(424-426)aaG>aaT		sulfatase modifying factor 2							215.0	194.0	201.0					7																	56141896		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56141896G>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.369G>T	7.37:g.56141896G>T	ENSP00000406445:p.Lys123Asn		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.K142N|SUMF2_ENST00000413756.1_Missense_Mutation_p.K123N|SUMF2_ENST00000275607.9_Missense_Mutation_p.K35N|SUMF2_ENST00000437307.2_Missense_Mutation_p.K123N|SUMF2_ENST00000395436.2_Intron	p.K142N	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	457	+	Breast(14;0.214)		123					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.426G>T		.	.	.	.	.	.	.	.	.	.	G	13.79	2.343197	0.41498	.	.	ENSG00000129103	ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.41	3.52	0.40303	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.921992	0.09467	N	0.798178	T	0.21921	0.0528	N	0.03948	-0.315	0.40286	D	0.978456	B;B;B	0.18741	0.004;0.01;0.03	B;B;B	0.15052	0.012;0.01;0.01	T	0.07083	-1.0791	10	0.51188	T	0.08	-16.6535	8.7736	0.34747	0.1754:0.0:0.8246:0.0	.	145;123;142	E7EMF9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	N	142;35;145;142;123;123;140	ENSP00000400922:K142N;ENSP00000275607:K35N;ENSP00000414434:K145N;ENSP00000341938:K142N;ENSP00000415989:K123N;ENSP00000406445:K123N;ENSP00000410796:K140N	ENSP00000275607:K35N	K	+	3	2	SUMF2	56109390	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.038000	0.30254	1.444000	0.47605	0.585000	0.79938	AAG		0.552	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		12	184	1	0	0.00010058	1	0.000111121	12	184				
TRMU	55687	broad.mit.edu	37	22	46733779	46733779	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46733779G>T	ENST00000290846.4	+	2	526	c.186G>T	c.(184-186)caG>caT	p.Q62H	TRMU_ENST00000381019.3_Missense_Mutation_p.Q62H|TRMU_ENST00000424260.2_Missense_Mutation_p.Q27H	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	62					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GAGTTTGCCAGATCTTAGACA	0.478																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(184-186)caG>caT		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							222.0	183.0	196.0					22																	46733779		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46733779G>T	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.186G>T	22.37:g.46733779G>T	ENSP00000290846:p.Gln62His					TRMU_ENST00000381019.3_Missense_Mutation_p.Q62H|TRMU_ENST00000424260.2_Missense_Mutation_p.Q27H	p.Q62H	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	2	526	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	62					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.186G>T	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558052	0.45590	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	T;T;T	0.63913	-0.07;-0.07;-0.07	4.8	-4.79	0.03200	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.428011	0.27744	N	0.018028	T	0.56411	0.1983	L	0.28054	0.825	0.19300	N	0.999972	P;P;P	0.47545	0.897;0.755;0.586	P;P;P	0.54759	0.76;0.568;0.617	T	0.62062	-0.6933	10	0.87932	D	0	-11.054	13.3072	0.60359	0.1292:0.0:0.8708:0.0	.	62;62;62	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	H	62;62;27	ENSP00000290846:Q62H;ENSP00000370407:Q62H;ENSP00000406038:Q27H	ENSP00000290846:Q62H	Q	+	3	2	TRMU	45112443	0.069000	0.21087	0.001000	0.08648	0.970000	0.65996	0.556000	0.23438	-1.198000	0.02669	-0.259000	0.10710	CAG		0.478	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		9	95	1	0	0.000442599	1	0.00048047	9	95				
TEAD1	7003	broad.mit.edu	37	11	12901223	12901223	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12901223T>C	ENST00000526600.1	+	1	234	c.11T>C	c.(10-12)gTa>gCa	p.V4A	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000527575.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATGCGTTATGTATTAAGTTGG	0.507																																						ENST00000526600.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(10-12)gTa>gCa		TEA domain family member 1 (SV40 transcriptional enhancer factor)							73.0	63.0	66.0					11																	12901223		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12901223T>C	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.11T>C	11.37:g.12901223T>C	ENSP00000435393:p.Val4Ala					TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361985.2_Intron	p.V4A			P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	1	234	+			0					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.11T>C		.	.	.	.	.	.	.	.	.	.	T	12.09	1.832868	0.32421	.	.	ENSG00000187079	ENST00000526600	T	0.55234	0.53	6.06	4.87	0.63330	.	.	.	.	.	T	0.40595	0.1123	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44559	-0.9320	8	0.87932	D	0	.	5.4509	0.16565	0.0:0.1417:0.1532:0.7051	.	4	E9PKB7	.	A	4	ENSP00000435393:V4A	ENSP00000435393:V4A	V	+	2	0	TEAD1	12857799	1.000000	0.71417	0.953000	0.39169	0.363000	0.29612	2.248000	0.43160	2.315000	0.78130	0.533000	0.62120	GTA		0.507	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		13	26	0	0	0	1	0	13	26				
PARP14	54625	broad.mit.edu	37	3	122437669	122437669	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122437669G>T	ENST00000474629.2	+	14	4937	c.4671G>T	c.(4669-4671)gaG>gaT	p.E1557D	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1557	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGAAATTAGAGGATGCAAGGA	0.378																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(4669-4671)gaG>gaT		poly (ADP-ribose) polymerase family, member 14							117.0	115.0	115.0					3																	122437669		1868	4108	5976	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437669G>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4671G>T	3.37:g.122437669G>T	ENSP00000418194:p.Glu1557Asp					PARP14_ENST00000475640.1_3'UTR	p.E1557D	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4937	+			1557			WWE.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4671G>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398184	0.42512	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.60672	0.17	5.05	2.29	0.28610	WWE domain (2);	0.000000	0.64402	D	0.000002	T	0.73590	0.3606	M	0.84511	2.7	0.51233	D	0.999919	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71892	-0.4455	10	0.72032	D	0.01	.	6.9465	0.24522	0.4409:0.0:0.5591:0.0	.	1557;1557	Q460N5-4;Q460N5	.;PAR14_HUMAN	D	1557;1476;160;553	ENSP00000418194:E1557D	ENSP00000310633:E160D	E	+	3	2	PARP14	123920359	0.031000	0.19500	0.997000	0.53966	0.222000	0.24845	0.250000	0.18235	0.307000	0.22880	0.650000	0.86243	GAG		0.378	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		8	92	1	0	0.000157383	1	0.00017284	8	92				
PRPS2	5634	broad.mit.edu	37	X	12828249	12828249	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828249G>A	ENST00000380668.5	+	4	642	c.514G>A	c.(514-516)Gca>Aca	p.A172T	PRPS2_ENST00000489404.1_Missense_Mutation_p.A172T|PRPS2_ENST00000398491.2_Missense_Mutation_p.A175T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	172					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTCACCTGACGCAGGGGGAGC	0.463																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(514-516)Gca>Aca		phosphoribosyl pyrophosphate synthetase 2							103.0	90.0	94.0					X																	12828249		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12828249G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.514G>A	X.37:g.12828249G>A	ENSP00000370043:p.Ala172Thr					PRPS2_ENST00000489404.1_Missense_Mutation_p.A172T|PRPS2_ENST00000398491.2_Missense_Mutation_p.A175T	p.A172T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			4	642	+			172					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.514G>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174341	0.38413	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220	D;D;D;T	0.95238	-2.93;-2.93;-3.65;-0.62	4.91	4.91	0.64330	Phosphoribosyltransferase (1);	0.106543	0.64402	D	0.000006	D	0.96194	0.8759	M	0.85542	2.76	0.80722	D	1	P;P	0.49185	0.92;0.902	P;P	0.49999	0.628;0.495	D	0.96644	0.9476	10	0.56958	D	0.05	-5.183	17.6643	0.88200	0.0:0.0:1.0:0.0	.	172;175	P11908;P11908-2	PRPS2_HUMAN;.	T	172;175;172;85;62	ENSP00000370043:A172T;ENSP00000381504:A175T;ENSP00000419380:A172T;ENSP00000418911:A85T	ENSP00000370043:A172T	A	+	1	0	PRPS2	12738170	1.000000	0.71417	0.040000	0.18447	0.208000	0.24298	9.273000	0.95719	2.188000	0.69820	0.596000	0.82720	GCA		0.463	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		34	59	0	0	0	1	0	34	59				
SBF1	6305	broad.mit.edu	37	22	50898420	50898420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898420C>T	ENST00000390679.3	-	26	3636	c.3452G>A	c.(3451-3453)cGc>cAc	p.R1151H	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Missense_Mutation_p.R1151H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1152H			O95248	MTMR5_HUMAN	SET binding factor 1	1151	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAGAAATGCGGAAGGGCTC	0.667																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3451-3453)cGc>cAc		SET binding factor 1							46.0	52.0	50.0					22																	50898420		2112	4249	6361	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898420C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3452G>A	22.37:g.50898420C>T	ENSP00000375097:p.Arg1151His					SBF1_ENST00000390679.3_Missense_Mutation_p.R1151H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1152H	p.R1151H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3635	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1151			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3452G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.404478	0.83230	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.95656	-3.77;-3.77;-3.77	4.28	4.28	0.50868	Myotubularin phosphatase domain (1);	0.058100	0.64402	D	0.000003	D	0.98024	0.9349	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.953;0.996	D	0.99246	1.0886	10	0.87932	D	0	.	16.4833	0.84163	0.0:1.0:0.0:0.0	.	1151;1151	O95248;O95248-4	MTMR5_HUMAN;.	H	1151;1152;1161;1151	ENSP00000370196:R1151H;ENSP00000252027:R1152H;ENSP00000375097:R1151H	ENSP00000336522:R1161H	R	-	2	0	SBF1	49245286	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	4.602000	0.61098	2.196000	0.70406	0.561000	0.74099	CGC		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				9	51	0	0	0	1	0	9	51				
MASP1	5648	broad.mit.edu	37	3	186969454	186969454	+	Missense_Mutation	SNP	C	C	T	rs142112097	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186969454C>T	ENST00000337774.5	-	7	1368	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.V327I|MASP1_ENST00000392472.2_Missense_Mutation_p.V214I|MASP1_ENST00000392470.2_Missense_Mutation_p.V301I|MASP1_ENST00000296280.6_Missense_Mutation_p.V327I	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	327	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCACAGCTGACGAGCACTTGG	0.552																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(979-981)Gtc>Atc		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)		C	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	6.2+/-15.9	0,2,2201	135.0	126.0	129.0		979,979,979	-7.2	0.0	3	dbSNP_134	129	0,8600		0,0,4300	no	missense,missense,missense	MASP1	NM_001031849.2,NM_001879.5,NM_139125.3	29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	327/381,327/700,327/729	186969454	2,13004	2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186969454C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.979G>A	3.37:g.186969454C>T	ENSP00000336792:p.Val327Ile					MASP1_ENST00000392470.2_Missense_Mutation_p.V301I|MASP1_ENST00000392472.2_Missense_Mutation_p.V214I|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.V327I|MASP1_ENST00000296280.6_Missense_Mutation_p.V327I	p.V327I	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	7	1368	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		327			Sushi 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.979G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	2.506	-0.314163	0.05422	4.54E-4	0.0	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.9	-7.15	0.01521	Complement control module (2);Sushi/SCR/CCP (3);	0.731876	0.13577	N	0.377642	T	0.28566	0.0707	N	0.02665	-0.54	0.09310	N	1	B;B;B;B;B	0.17465	0.002;0.022;0.0;0.001;0.006	B;B;B;B;B	0.17433	0.002;0.016;0.001;0.001;0.018	T	0.34179	-0.9839	10	0.05351	T	0.99	.	17.3017	0.87184	0.0:0.2412:0.0:0.7588	.	301;327;214;327;327	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	I	327;327;214;214;327;301	ENSP00000336792:V327I;ENSP00000296280:V327I;ENSP00000376264:V214I;ENSP00000169293:V327I;ENSP00000376262:V301I	ENSP00000169293:V327I	V	-	1	0	MASP1	188452148	0.003000	0.15002	0.014000	0.15608	0.896000	0.52359	-1.040000	0.03546	-1.803000	0.01242	-1.980000	0.00456	GTC		0.552	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		6	104	0	0	0	1	0	6	104				
NDUFS8	4728	broad.mit.edu	37	11	67803831	67803831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67803831G>A	ENST00000313468.5	+	6	591	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	TCIRG1_ENST00000265686.3_5'Flank|NDUFS8_ENST00000528492.1_Missense_Mutation_p.V16M|MIR4691_ENST00000583764.1_RNA	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	162	4Fe-4S ferredoxin-type 2.				cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GGCCTGTCCCGTGGATGCCAT	0.667																																					Colon(116;1205 2770 20054)	ENST00000313468.5																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)	8						c.(484-486)Gtg>Atg		NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						41.0	37.0	39.0					11																	67803831		2200	4294	6494	SO:0001583	missense	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67803831G>A	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.484G>A	11.37:g.67803831G>A	ENSP00000315774:p.Val162Met					NDUFS8_ENST00000528492.1_Missense_Mutation_p.V16M	p.V162M	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN			6	591	+			162			4Fe-4S ferredoxin-type 2.		B2RB86|Q0VDA8	Missense_Mutation	SNP	ENST00000313468.5	37	c.484G>A	CCDS8176.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.269331	0.40095	.	.	ENSG00000110717	ENST00000313468;ENST00000528492;ENST00000526339	D;D;D	0.92348	-2.2;-3.02;-2.2	4.68	3.76	0.43208	Fumarate reductase, C-terminal (1);4Fe-4S binding domain (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.124833	0.53938	D	0.000052	D	0.95284	0.8470	M	0.73962	2.25	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95420	0.8506	10	0.87932	D	0	.	12.9441	0.58364	0.0:0.0:0.8365:0.1635	.	162;162	E9PPW7;O00217	.;NDUS8_HUMAN	M	162;16;162	ENSP00000315774:V162M;ENSP00000432848:V16M;ENSP00000436287:V162M	ENSP00000315774:V162M	V	+	1	0	NDUFS8	67560407	1.000000	0.71417	0.814000	0.32528	0.149000	0.21700	7.577000	0.82486	1.167000	0.42706	-0.187000	0.12897	GTG		0.667	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		9	20	0	0	0	1	0	9	20				
HNRNPK	3190	broad.mit.edu	37	9	86592687	86592687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86592687C>T	ENST00000376264.2	-	4	331	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	HNRNPK_ENST00000376281.4_Missense_Mutation_p.E25K|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E25K|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E25K|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E25K|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	25	Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCCATATCTTCTGCAGGGCGT	0.358																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(73-75)Gaa>Aaa		heterogeneous nuclear ribonucleoprotein K							59.0	58.0	58.0					9																	86592687		2202	4299	6501	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86592687C>T		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.73G>A	9.37:g.86592687C>T	ENSP00000365440:p.Glu25Lys					HNRNPK_ENST00000360384.5_Missense_Mutation_p.E25K|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E25K|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E25K|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E25K	p.E25K	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			4	296	-			25			Necessary for interaction with DDX1.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.73G>A	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504722	0.96371	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T	0.47177	0.86;0.85;0.86;0.85;0.85	5.03	5.03	0.67393	ROK, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.997;0.999;0.999;0.997;0.998;1.0;0.998	D;D;D;D;D;D;D;D	0.87578	0.995;0.985;0.996;0.996;0.971;0.991;0.998;0.983	T	0.57213	-0.7850	10	0.36615	T	0.2	-7.0866	18.7965	0.91995	0.0:1.0:0.0:0.0	.	25;25;25;25;25;25;25;25	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	K	25	ENSP00000365458:E25K;ENSP00000365440:E25K;ENSP00000365439:E25K;ENSP00000317788:E25K;ENSP00000353552:E25K	ENSP00000317788:E25K	E	-	1	0	HNRNPK	85782507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.494000	0.84150	0.650000	0.86243	GAA		0.358	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			3	51	0	0	0	1	0	3	51				
WNK2	65268	broad.mit.edu	37	9	96051595	96051595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96051595G>A	ENST00000297954.4	+	20	4670	c.4670G>A	c.(4669-4671)gGg>gAg	p.G1557E	WNK2_ENST00000395477.2_Missense_Mutation_p.G1520E|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.G1169E|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G1132E	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1557					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACCCCTGGGGCCCACCGTC	0.721																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4669-4671)gGg>gAg		WNK lysine deficient protein kinase 2							8.0	9.0	9.0					9																	96051595		2162	4247	6409	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051595G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4670G>A	9.37:g.96051595G>A	ENSP00000297954:p.Gly1557Glu					WNK2_ENST00000349097.3_Missense_Mutation_p.G1169E|WNK2_ENST00000395477.2_Missense_Mutation_p.G1520E|WNK2_ENST00000427277.2_Missense_Mutation_p.G1132E|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR	p.G1557E			Q9Y3S1	WNK2_HUMAN			20	4670	+			1557					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4670G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.980888|1.980888	0.34942|0.34942	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251;ENST00000453718	T;T;T;T|T;T;T	0.51325|0.51071	0.71;0.71;0.71;0.71|0.72;0.72;0.72	5.32|5.32	3.29|3.29	0.37713|0.37713	.|.	0.364252|0.364252	0.32258|0.32258	N|N	0.006341|0.006341	T|T	0.37892|0.37892	0.1020|0.1020	L|L	0.54323|0.54323	1.7|1.7	0.22737|0.22737	N|N	0.998799|0.998799	D;D;P;D;D|.	0.89917|.	0.999;0.999;0.868;1.0;0.999|.	D;D;P;D;D|.	0.91635|.	0.988;0.974;0.462;0.999;0.971|.	T|T	0.31943|0.31943	-0.9925|-0.9925	10|8	0.02654|0.02654	T|T	1|1	.|.	8.6503|8.6503	0.34031|0.34031	0.0:0.2277:0.5714:0.2008|0.0:0.2277:0.5714:0.2008	.|.	1520;1515;1123;1520;1557|.	Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	E|S	1557;1520;1169;1132|1516;317;43	ENSP00000297954:G1557E;ENSP00000378860:G1520E;ENSP00000297876:G1169E;ENSP00000411181:G1132E|ENSP00000415038:G1516S;ENSP00000390441:G317S;ENSP00000413325:G43S	ENSP00000297954:G1557E|ENSP00000415038:G1516S	G|G	+|+	2|1	0|0	WNK2|WNK2	95091416|95091416	0.068000|0.068000	0.21057|0.21057	0.688000|0.688000	0.30117|0.30117	0.198000|0.198000	0.23893|0.23893	0.123000|0.123000	0.15708|0.15708	1.232000|1.232000	0.43678|0.43678	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.721	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		4	3	0	0	0	1	0	4	3				
CCDC66	285331	broad.mit.edu	37	3	56601046	56601046	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56601046T>C	ENST00000394672.3	+	6	849	c.779T>C	c.(778-780)tTg>tCg	p.L260S	CCDC66_ENST00000326595.7_Missense_Mutation_p.L226S|CCDC66_ENST00000538560.1_Missense_Mutation_p.L260S|CCDC66_ENST00000436465.2_Missense_Mutation_p.L260S|CCDC66_ENST00000442522.2_3'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	260					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAAGTTCGTTGGAAGCAAAA	0.373																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(778-780)tTg>tCg		coiled-coil domain containing 66							117.0	127.0	123.0					3																	56601046		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56601046T>C	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.779T>C	3.37:g.56601046T>C	ENSP00000378167:p.Leu260Ser					CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000538560.1_Missense_Mutation_p.L260S|CCDC66_ENST00000436465.2_Missense_Mutation_p.L260S|CCDC66_ENST00000326595.7_Missense_Mutation_p.L226S	p.L260S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	6	849	+			260					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.779T>C	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	t	14.88	2.666853	0.47677	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32	5.51	4.35	0.52113	.	0.230621	0.28718	N	0.014372	D	0.99420	0.9795	M	0.71581	2.175	0.24700	N	0.993266	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97948	1.0330	10	0.56958	D	0.05	-0.0366	10.2183	0.43182	0.0:0.0753:0.0:0.9247	.	260;260	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	S	260;260;226;260;260	ENSP00000401451:L260S;ENSP00000378167:L260S;ENSP00000326050:L226S;ENSP00000404320:L260S;ENSP00000444919:L260S	ENSP00000326050:L226S	L	+	2	0	CCDC66	56576086	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	3.639000	0.54339	0.930000	0.37217	-0.253000	0.11424	TTG		0.373	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		17	98	0	0	0	1	0	17	98				
FAM57A	79850	broad.mit.edu	37	17	641146	641146	+	Silent	SNP	C	C	T	rs199542842		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:641146C>T	ENST00000308278.8	+	3	503	c.267C>T	c.(265-267)taC>taT	p.Y89Y	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Silent_p.Y89Y	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	89	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		ATGACTCGTACGCCATGTACC	0.502																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(265-267)taC>taT		family with sequence similarity 57, member A		C		0,4406		0,0,2203	231.0	208.0	216.0		267	-8.8	0.0	17		216	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FAM57A	NM_024792.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		89/258	641146	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79850					integral to membrane|plasma membrane		g.chr17:641146C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.267C>T	17.37:g.641146C>T						FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Silent_p.Y89Y	p.Y89Y	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	503	+			89			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	ENST00000308278.8	37	c.267C>T	CCDS10996.1																																																																																				0.502	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		45	96	0	0	0	1	0	45	96				
HLCS	3141	broad.mit.edu	37	21	38128917	38128917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128917C>A	ENST00000399120.1	-	11	3165	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	HLCS_ENST00000336648.4_Missense_Mutation_p.E645D	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	645	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGATCAGTTTCTCCAGCACAG	0.478																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1933-1935)gaG>gaT		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						222.0	183.0	197.0					21																	38128917		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38128917C>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1935G>T	21.37:g.38128917C>A	ENSP00000382071:p.Glu645Asp					HLCS_ENST00000336648.3_Missense_Mutation_p.E645D	p.E645D	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			11	3165	-		Myeloproliferative disorder(46;0.0422)	645					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1935G>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660224	0.47572	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97232	-4.3;-4.3	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.77406	2.37	0.49213	D	0.999763	D	0.89917	1.0	D	0.91635	0.999	D	0.97644	1.0150	10	0.52906	T	0.07	.	8.7629	0.34685	0.0:0.8316:0.0:0.1684	.	645	P50747	BPL1_HUMAN	D	645	ENSP00000382071:E645D;ENSP00000338387:E645D	ENSP00000338387:E645D	E	-	3	2	HLCS	37050787	0.983000	0.35010	0.964000	0.40570	0.085000	0.17905	2.515000	0.45512	2.163000	0.67991	0.561000	0.74099	GAG		0.478	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			52	80	1	0	3.21867e-24	1	4.26874e-24	52	80				
IGKV1-12	28940	broad.mit.edu	37	2	89340006	89340006	+	RNA	SNP	G	G	A	rs377371912	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89340006G>A	ENST00000480492.1	-	0	112									immunoglobulin kappa variable 1-12																		TCTGGATGTCGCATCTGGAAC	0.458													N|||	5	0.000998403	0.003	0.0	5008	,	,		16743	0.001		0.0	False		,,,				2504	0.0					ENST00000480492.1																			0															A		28,3918		0,28,1945	183.0	142.0	155.0			2.1	0.0	2		155	0,8278		0,0,4139	no	intergenic				0,28,6084	AA,AG,GG		0.0,0.7096,0.2291			89340006	28,12196	1973	4139	6112			0							g.chr2:89340006G>A	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89340006G>A														0	112	-									RNA	SNP	ENST00000480492.1	37																																																																																						0.458	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		63	159	0	0	0	1	0	63	159				
ZNF335	63925	broad.mit.edu	37	20	44581339	44581339	+	Silent	SNP	G	G	A	rs143040607		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44581339G>A	ENST00000322927.2	-	19	2812	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	ZNF335_ENST00000426788.1_Silent_p.P749P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	904					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCTCCTGCGGGCTCCTCGC	0.572																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2710-2712)ccC>ccT		zinc finger protein 335		G		0,4406		0,0,2203	82.0	76.0	78.0		2712	2.7	0.9	20	dbSNP_134	78	1,8599		0,1,4299	no	coding-synonymous	ZNF335	NM_022095.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		904/1343	44581339	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44581339G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2712C>T	20.37:g.44581339G>A						ZNF335_ENST00000426788.1_Silent_p.P749P	p.P904P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			19	2812	-		Myeloproliferative disorder(115;0.0122)	904					B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.2712C>T	CCDS13389.1																																																																																				0.572	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		26	34	0	0	0	1	0	26	34				
SLC9A3	6550	broad.mit.edu	37	5	479971	479971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:479971C>T	ENST00000264938.3	-	10	1636	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.A534T	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	543					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAGCTGATGGCATCCTTCAGG	0.617																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1627-1629)Gcc>Acc		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							92.0	84.0	87.0					5																	479971		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:479971C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1627G>A	5.37:g.479971C>T	ENSP00000264938:p.Ala543Thr					CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.A534T	p.A543T	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1636	-			543					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1627G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141866	0.77775	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.79749	-1.3;-1.3	4.97	4.97	0.65823	.	0.054574	0.64402	N	0.000001	D	0.91362	0.7275	M	0.88979	2.995	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.93028	0.6446	10	0.72032	D	0.01	.	17.837	0.88700	0.0:1.0:0.0:0.0	.	534;543	E9PF67;P48764	.;SL9A3_HUMAN	T	543;534	ENSP00000264938:A543T;ENSP00000422983:A534T	ENSP00000264938:A543T	A	-	1	0	SLC9A3	532971	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	7.609000	0.82925	2.303000	0.77524	0.655000	0.94253	GCC		0.617	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		27	31	0	0	0	1	0	27	31				
EMILIN1	11117	broad.mit.edu	37	2	27306234	27306234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27306234G>A	ENST00000380320.4	+	4	2294	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	599					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGGATGGTGTGGAGCGCTG	0.697																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(1795-1797)Gtg>Atg		elastin microfibril interfacer 1							32.0	39.0	37.0					2																	27306234		2182	4282	6464	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27306234G>A	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1795G>A	2.37:g.27306234G>A	ENSP00000369677:p.Val599Met						p.V599M	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	2294	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		599					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.1795G>A	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691267	0.68271	.	.	ENSG00000138080	ENST00000380320	T	0.74526	-0.85	4.73	4.73	0.59995	.	0.000000	0.56097	D	0.000037	T	0.67344	0.2883	L	0.27053	0.805	0.44469	D	0.997407	P	0.43094	0.799	P	0.45946	0.498	T	0.68758	-0.5324	10	0.44086	T	0.13	-10.8564	13.0709	0.59061	0.0:0.0:1.0:0.0	.	599	Q9Y6C2	EMIL1_HUMAN	M	599	ENSP00000369677:V599M	ENSP00000369677:V599M	V	+	1	0	EMILIN1	27159738	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.496000	0.66918	2.456000	0.83038	0.561000	0.74099	GTG		0.697	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		15	39	0	0	0	1	0	15	39				
AQP4	361	broad.mit.edu	37	18	24436260	24436260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436260G>T	ENST00000383168.4	-	5	1015	c.887C>A	c.(886-888)cCt>cAt	p.P296H	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.P274H|AQP4_ENST00000440832.3_Missense_Mutation_p.P274H	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	296				P -> L (in Ref. 1; AAC52112). {ECO:0000305}.	carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CACCACTCCAGGTTTTAGAAT	0.488																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(886-888)cCt>cAt		aquaporin 4							357.0	296.0	317.0					18																	24436260		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436260G>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.887C>A	18.37:g.24436260G>T	ENSP00000372654:p.Pro296His					AQP4_ENST00000440832.3_Missense_Mutation_p.P274H|AQP4_ENST00000581374.1_Missense_Mutation_p.P274H|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.P296H	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	1015	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		296	P -> L (in Ref. 1; AAC52112).				P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.887C>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561064	0.86335	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.86497	-2.13	5.75	5.75	0.90469	.	0.327183	0.38217	N	0.001769	D	0.86781	0.6015	L	0.27053	0.805	0.53005	D	0.999966	D	0.56035	0.974	P	0.51355	0.667	D	0.88122	0.2832	10	0.72032	D	0.01	.	19.9375	0.97146	0.0:0.0:1.0:0.0	.	296	P55087	AQP4_HUMAN	H	296;276;192	ENSP00000372654:P296H	ENSP00000372654:P296H	P	-	2	0	AQP4	22690258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.096000	0.64535	2.717000	0.92951	0.650000	0.86243	CCT		0.488	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		22	196	1	0	2.89027e-11	1	3.59474e-11	22	196				
SCN1A	6323	broad.mit.edu	37	2	166847988	166847988	+	Nonsense_Mutation	SNP	G	G	A	rs587780446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166847988G>A	ENST00000303395.4	-	26	5796	c.5797C>T	c.(5797-5799)Cga>Tga	p.R1933*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1905*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1922*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.R1933*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1933	IQ.				adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1922*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTACAGTTCGCTTTAAAAGG	0.358																																						ENST00000423058.2																			1	Substitution - Nonsense(1)	p.R1922*(1)	prostate(1)	NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5797-5799)Cga>Tga		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						83.0	80.0	81.0					2																	166847988		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166847988G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5797C>T	2.37:g.166847988G>A	ENSP00000303540:p.Arg1933*					AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1905*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1922*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1933*	p.R1933*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5814	-			1933					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.5797C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	42	9.297055	0.99128	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.76	2.85	0.33270	.	0.000000	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5097	0.67776	0.0:0.0:0.4635:0.5365	.	.	.	.	X	1933;1933;1922;1905	.	ENSP00000303540:R1933X	R	-	1	2	SCN1A	166556234	0.906000	0.30813	0.998000	0.56505	0.993000	0.82548	1.693000	0.37742	0.294000	0.22547	-0.324000	0.08512	CGA		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		33	50	0	0	0	1	0	33	50				
NUTM2G	441457	broad.mit.edu	37	9	99694208	99694208	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99694208G>T	ENST00000372322.3	+	2	242	c.221G>T	c.(220-222)aGt>aTt	p.S74I	NUTM2G_ENST00000354649.3_Missense_Mutation_p.S74I|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	74																	CGCGGCCCAAGTGGGGCTGGG	0.652																																						ENST00000354649.3																			0											c.(220-222)aGt>aTt		NUT family member 2G							24.0	29.0	27.0					9																	99694208		1860	4091	5951	SO:0001583	missense	441457							g.chr9:99694208G>T		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.221G>T	9.37:g.99694208G>T	ENSP00000361397:p.Ser74Ile					NUTM2G_ENST00000372322.3_Missense_Mutation_p.S74I|HIATL2_ENST00000506067.1_Intron	p.S74I	NM_001045477.2	NP_001038942.1					2	936	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.221G>T	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	7.974	0.749723	0.15778	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159	T;T	0.36157	1.27;1.27	1.03	-1.08	0.09936	.	.	.	.	.	T	0.23370	0.0565	L	0.41824	1.3	0.09310	N	1	B	0.30439	0.279	B	0.28139	0.086	T	0.17561	-1.0365	9	0.36615	T	0.2	.	3.9588	0.09401	0.5112:0.0:0.4888:0.0	.	74	Q5VZR2-2	.	I	74	ENSP00000346670:S74I;ENSP00000361397:S74I	ENSP00000346670:S74I	S	+	2	0	FAM22G	98734029	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.026000	0.13599	-0.421000	0.07416	-0.459000	0.05422	AGT		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		9	15	1	0	5.68852e-11	1	7.05143e-11	9	15				
TMEM38A	79041	broad.mit.edu	37	19	16791393	16791393	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16791393G>T	ENST00000187762.2	+	3	557		c.e3+1			NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGGGTCAAAGGTAAATAGGAT	0.532																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.e3+1		transmembrane protein 38A							62.0	61.0	61.0					19																	16791393		2203	4300	6503	SO:0001630	splice_region_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791393G>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.466+1G>T	19.37:g.16791393G>T								NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			3	557	+								A8K9P9	Splice_Site	SNP	ENST00000187762.2	37		CCDS12349.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539796	0.85917	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5463	0.87863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM38A	16652393	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.582000	0.98214	2.459000	0.83118	0.561000	0.74099	.		0.532	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074	Intron	7	38	1	0	8.12818e-05	1	8.99451e-05	7	38				
CPA6	57094	broad.mit.edu	37	8	68430256	68430256	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68430256G>A	ENST00000297770.4	-	3	434	c.219C>T	c.(217-219)atC>atT	p.I73I	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.I73I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	73						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATACATAGGAGATACTGCTGG	0.478																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(217-219)atC>atT		carboxypeptidase A6							107.0	96.0	100.0					8																	68430256		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68430256G>A	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.219C>T	8.37:g.68430256G>A						CPA6_ENST00000518549.1_Silent_p.I73I|CPA6_ENST00000297769.4_5'UTR	p.I73I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		3	434	-			73					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.219C>T	CCDS6200.1																																																																																				0.478	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		7	65	0	0	0	1	0	7	65				
FBXL17	64839	broad.mit.edu	37	5	107216719	107216719	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:107216719C>T	ENST00000542267.1	-	8	2372				FBXL17_ENST00000359660.5_Intron|FBXL17_ENST00000496714.1_Missense_Mutation_p.V264I	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17											endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AAGCAAACAACTTGATAGTCA	0.383																																						ENST00000496714.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(790-792)Gtt>Att		F-box and leucine-rich repeat protein 17							149.0	134.0	139.0					5																	107216719		2202	4300	6502	SO:0001627	intron_variant	64839							g.chr5:107216719C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1965+18G>A	5.37:g.107216719C>T						FBXL17_ENST00000359660.5_Intron|FBXL17_ENST00000542267.1_Intron	p.V264I			Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	7	991	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	665					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.790G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	2.979	-0.210844	0.06140	.	.	ENSG00000145743	ENST00000496714	T	0.12255	2.7	5.16	-2.56	0.06268	.	.	.	.	.	T	0.06280	0.0162	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45279	-0.9272	8	0.08837	T	0.75	.	10.8231	0.46617	0.0:0.4163:0.0:0.5837	.	264	Q9UF56-2	.	I	264	ENSP00000418111:V264I	ENSP00000418111:V264I	V	-	1	0	FBXL17	107244618	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-2.330000	0.01110	-1.051000	0.03226	-0.136000	0.14681	GTT		0.383	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	56	0	0	0	1	0	29	56				
TNPO2	30000	broad.mit.edu	37	19	12822220	12822220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12822220C>T	ENST00000592287.1	-	11	1115	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	TNPO2_ENST00000450764.2_Missense_Mutation_p.R336H|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Missense_Mutation_p.R336H|TNPO2_ENST00000425528.1_Missense_Mutation_p.R336H|TNPO2_ENST00000588216.1_Missense_Mutation_p.R336H|TNPO2_ENST00000441499.1_Missense_Mutation_p.R336H	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	336					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.R336H(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTGGAAGCGTGGCTTGAT	0.617																																						ENST00000425528.1																			2	Substitution - Missense(2)	p.R336H(2)	endometrium(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1006-1008)cGc>cAc		transportin 2							161.0	172.0	168.0					19																	12822220		2200	4290	6490	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12822220C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1007G>A	19.37:g.12822220C>T	ENSP00000468434:p.Arg336His					TNPO2_ENST00000356861.5_Missense_Mutation_p.R336H|TNPO2_ENST00000588216.1_Missense_Mutation_p.R336H|TNPO2_ENST00000441499.1_Missense_Mutation_p.R336H|TNPO2_ENST00000592287.1_Missense_Mutation_p.R336H|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.R336H	p.R336H			O14787	TNPO2_HUMAN			12	1364	-			336					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1007G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182166	0.78677	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.44	5.44	0.79542	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	M	0.84326	2.69	0.80722	D	1	P;D	0.54772	0.845;0.968	B;B	0.36186	0.109;0.219	T	0.78160	-0.2312	10	0.87932	D	0	-3.8122	18.0401	0.89316	0.0:1.0:0.0:0.0	.	500;336	Q4LE60;O14787	.;TNPO2_HUMAN	H	500;336;336;336;336;336;336	ENSP00000407182:R336H;ENSP00000389648:R336H;ENSP00000397379:R336H;ENSP00000349321:R336H	ENSP00000349321:R336H	R	-	2	0	TNPO2	12683220	1.000000	0.71417	0.991000	0.47740	0.916000	0.54674	7.487000	0.81328	2.556000	0.86216	0.561000	0.74099	CGC		0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		26	66	0	0	0	1	0	26	66				
CDH3	1001	broad.mit.edu	37	16	68725634	68725634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68725634G>A	ENST00000264012.4	+	13	2351	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	CDH3_ENST00000581171.1_Missense_Mutation_p.V548I|CDH3_ENST00000429102.2_Missense_Mutation_p.V603I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	603	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGACACAGTGGTCTTGTCCCT	0.498																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1807-1809)Gtc>Atc		cadherin 3, type 1, P-cadherin (placental)							121.0	102.0	109.0					16																	68725634		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68725634G>A	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1807G>A	16.37:g.68725634G>A	ENSP00000264012:p.Val603Ile					CDH3_ENST00000429102.2_Missense_Mutation_p.V603I|CDH3_ENST00000581171.1_Missense_Mutation_p.V548I	p.V603I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	13	2351	+		Ovarian(137;0.0564)	603			Cadherin 5.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.1807G>A	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214656	0.22289	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.61980	0.06;0.06	5.49	5.49	0.81192	Cadherin (1);Cadherin-like (1);	0.190236	0.25639	N	0.029291	T	0.29588	0.0738	N	0.00771	-1.2	0.23282	N	0.997985	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.14656	T	0.56	.	12.9027	0.58135	0.0:0.1633:0.8366:0.0	.	603	P22223	CADH3_HUMAN	I	603;603;548	ENSP00000398485:V603I;ENSP00000264012:V603I	ENSP00000264012:V603I	V	+	1	0	CDH3	67283135	0.433000	0.25562	1.000000	0.80357	0.245000	0.25701	0.913000	0.28611	2.745000	0.94114	0.462000	0.41574	GTC		0.498	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		30	37	0	0	0	1	0	30	37				
MAGI2	9863	broad.mit.edu	37	7	77789561	77789561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77789561G>A	ENST00000354212.4	-	16	2879	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P862S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P876S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	876					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P876S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532																																						ENST00000354212.4																			1	Substitution - Missense(1)	p.P876S(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2626-2628)Cca>Tca		membrane associated guanylate kinase, WW and PDZ domain containing 2							124.0	115.0	118.0					7																	77789561		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77789561G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2626C>T	7.37:g.77789561G>A	ENSP00000346151:p.Pro876Ser					MAGI2_ENST00000522391.1_Missense_Mutation_p.P876S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P862S	p.P876S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			16	2879	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	876					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2626C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868427	0.91587	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.12147	2.81;2.81;2.71	5.51	5.51	0.81932	.	0.000000	0.36374	U	0.002622	T	0.24198	0.0586	L	0.59436	1.845	0.80722	D	1	P;P;D	0.56521	0.642;0.78;0.976	B;P;P	0.47915	0.091;0.561;0.541	T	0.00579	-1.1661	10	0.52906	T	0.07	.	19.4065	0.94649	0.0:0.0:1.0:0.0	.	876;862;876	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	862;876;876;876	ENSP00000405766:P862S;ENSP00000346151:P876S;ENSP00000428389:P876S	ENSP00000346151:P876S	P	-	1	0	MAGI2	77627497	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.434000	0.97515	2.595000	0.87683	0.591000	0.81541	CCA		0.532	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		35	36	0	0	0	1	0	35	36				
CCNH	902	broad.mit.edu	37	5	86707051	86707051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86707051C>T	ENST00000256897.4	-	2	454	c.230G>A	c.(229-231)aGa>aAa	p.R77K	CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000504878.1_Missense_Mutation_p.R3K|CCNH_ENST00000508855.1_Missense_Mutation_p.R3K	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	77					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)	p.R77K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CACAACAGATCTTGGCATTGC	0.383								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000508855.1																			1	Substitution - Missense(1)	p.R77K(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15						c.(7-9)aGa>aAa	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	cyclin H							159.0	149.0	152.0					5																	86707051		2203	4300	6503	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86707051C>T	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.230G>A	5.37:g.86707051C>T	ENSP00000256897:p.Arg77Lys					CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000256897.4_Missense_Mutation_p.R77K|CCNH_ENST00000504878.1_Missense_Mutation_p.R3K	p.R3K			P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	1	60	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	77					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.8G>A	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841665	0.16963	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.10860	2.83;2.83;2.83	6.07	4.29	0.51040	Cyclin, N-terminal (1);Cyclin-like (3);	0.134405	0.64402	N	0.000002	T	0.03434	0.0099	N	0.01631	-0.79	0.32090	N	0.591985	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.24368	-1.0162	10	0.14656	T	0.56	-13.2357	8.6305	0.33917	0.0:0.7265:0.0:0.2735	.	77;24	P51946;E9PDB6	CCNH_HUMAN;.	K	3;77;3	ENSP00000426454:R3K;ENSP00000256897:R77K;ENSP00000426075:R3K	ENSP00000256897:R77K	R	-	2	0	CCNH	86742807	0.901000	0.30685	0.998000	0.56505	0.996000	0.88848	2.337000	0.43947	1.581000	0.49865	0.655000	0.94253	AGA		0.383	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		50	73	0	0	0	1	0	50	73				
HSFY1P1	27437	broad.mit.edu	37	22	17308627	17308627	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17308627C>A	ENST00000425038.1	+	0	264					NR_003607.1				heat shock transcription factor, Y-linked 1 pseudogene 1																		CCACATTATACTTTATGTCTC	0.368																																						ENST00000425038.1																			0																																																			0							g.chr22:17308627C>A	AY026053		22q11.2	2010-08-04	2010-08-04	2010-08-04	ENSG00000229027	ENSG00000229027			1846	pseudogene	pseudogene			"""cat eye syndrome chromosome region, candidate 8"", ""cat eye syndrome chromosome region, candidate 8 (non-protein coding)"""	CECR8		11381032	Standard	NR_003607		Approved	HSFYP1, HSFYL1	uc010gqr.1		OTTHUMG00000143727		22.37:g.17308627C>A								NR_003607.1						0	264	+									RNA	SNP	ENST00000425038.1	37																																																																																						0.368	HSFY1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000289790.2	NR_003607		4	12	1	0	0.150653	1	0.152692	4	12				
SACS	26278	broad.mit.edu	37	13	23911012	23911012	+	Missense_Mutation	SNP	T	T	C	rs143414642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911012T>C	ENST00000382292.3	-	9	7276	c.7003A>G	c.(7003-7005)Atg>Gtg	p.M2335V	SACS_ENST00000402364.1_Missense_Mutation_p.M1585V|SACS_ENST00000382298.3_Missense_Mutation_p.M2335V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2335					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAATTGACATCTTAGTGATT	0.338													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19864	0.0		0.0	False		,,,				2504	0.0					ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7003-7005)Atg>Gtg		spastic ataxia of Charlevoix-Saguenay (sacsin)		T	VAL/MET	3,4403	6.2+/-15.9	0,3,2200	125.0	120.0	122.0		7003	-7.3	0.0	13	dbSNP_134	122	0,8600		0,0,4300	yes	missense	SACS	NM_014363.4	21	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	benign	2335/4580	23911012	3,13003	2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911012T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7003A>G	13.37:g.23911012T>C	ENSP00000371729:p.Met2335Val					SACS_ENST00000382292.3_Missense_Mutation_p.M2335V|SACS_ENST00000402364.1_Missense_Mutation_p.M1585V	p.M2335V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7591	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2335					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7003A>G	CCDS9300.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	0.190	-1.054218	0.01965	6.81E-4	0.0	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94330	-3.4;-3.4;-3.4	5.78	-7.3	0.01446	.	1.317880	0.04388	N	0.361937	T	0.80330	0.4603	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69506	-0.5127	10	0.32370	T	0.25	.	1.2071	0.01897	0.1889:0.3107:0.1937:0.3067	.	2335	Q9NZJ4	SACS_HUMAN	V	2335;1585;2335	ENSP00000371729:M2335V;ENSP00000385844:M1585V;ENSP00000371735:M2335V	ENSP00000371729:M2335V	M	-	1	0	SACS	22809012	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.595000	0.05727	-1.668000	0.01471	-0.250000	0.11733	ATG		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		8	82	0	0	0	1	0	8	82				
MUC16	94025	broad.mit.edu	37	19	9049446	9049446	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9049446C>A	ENST00000397910.4	-	5	32388	c.32185G>T	c.(32185-32187)Gtc>Ttc	p.V10729F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10731	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGTGAGACAGTCATAATT	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32185-32187)Gtc>Ttc		mucin 16, cell surface associated							234.0	207.0	215.0					19																	9049446		1920	4133	6053	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049446C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32185G>T	19.37:g.9049446C>A	ENSP00000381008:p.Val10729Phe						p.V10729F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32388	-			10731			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32185G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.833	0.337843	0.11013	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	3.03	-3.49	0.04724	.	.	.	.	.	T	0.03263	0.0095	L	0.29908	0.895	.	.	.	P	0.49635	0.926	P	0.49999	0.628	T	0.33420	-0.9869	8	0.87932	D	0	.	4.1742	0.10345	0.0:0.3338:0.1833:0.4829	.	10729	B5ME49	.	F	10729	ENSP00000381008:V10729F	ENSP00000381008:V10729F	V	-	1	0	MUC16	8910446	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.373000	0.02568	-0.645000	0.05458	-0.451000	0.05528	GTC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	132	1	0	1.85257e-25	1	2.46364e-25	68	132				
EPHA1	2041	broad.mit.edu	37	7	143088766	143088766	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143088766G>A	ENST00000275815.3	-	17	2885	c.2799C>T	c.(2797-2799)caC>caT	p.H933H	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	933	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCGAGTGGAAGTGCAGGATGT	0.612																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2797-2799)caC>caT		EPH receptor A1							76.0	57.0	63.0					7																	143088766		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143088766G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2799C>T	7.37:g.143088766G>A							p.H933H	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			17	2885	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	933			SAM.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.2799C>T	CCDS5884.1																																																																																				0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			4	39	0	0	0	1	0	4	39				
NPY4R	5540	broad.mit.edu	37	10	47087293	47087293	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47087293C>A	ENST00000395716.1	+	2	595	c.510C>A	c.(508-510)ctC>ctA	p.L170L	NPY4R_ENST00000374312.1_Silent_p.L170L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	170					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTGTGTCCTCTCCCTGCCCT	0.562																																						ENST00000374312.1																			0											c.(508-510)ctC>ctA		neuropeptide Y receptor Y4							209.0	164.0	179.0					10																	47087293		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087293C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.510C>A	10.37:g.47087293C>A						NPY4R_ENST00000395716.1_Silent_p.L170L	p.L170L	NM_005972.4	NP_005963.3					3	929	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.510C>A	CCDS31193.1																																																																																				0.562	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			6	99	1	0	3.59834e-05	1	4.01776e-05	6	99				
KDM6B	23135	broad.mit.edu	37	17	7753421	7753421	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753421T>C	ENST00000448097.2	+	13	3930	c.3599T>C	c.(3598-3600)gTc>gCc	p.V1200A	KDM6B_ENST00000254846.5_Missense_Mutation_p.V1200A			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1200					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TTCTCACCTGTCCTGCTGCAG	0.612																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3598-3600)gTc>gCc		lysine (K)-specific demethylase 6B							76.0	67.0	70.0					17																	7753421		2202	4300	6502	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7753421T>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3599T>C	17.37:g.7753421T>C	ENSP00000412513:p.Val1200Ala					KDM6B_ENST00000448097.2_Missense_Mutation_p.V1200A	p.V1200A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			13	3988	+			1200					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3599T>C		.	.	.	.	.	.	.	.	.	.	T	12.94	2.087515	0.36855	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.69175	-0.38;-0.38	5.4	5.4	0.78164	.	0.067771	0.64402	D	0.000018	T	0.73505	0.3595	L	0.43152	1.355	0.48632	D	0.999682	B;D	0.69078	0.012;0.997	B;D	0.66084	0.035;0.941	T	0.70637	-0.4817	10	0.28530	T	0.3	-11.4061	14.7291	0.69368	0.0:0.0:0.0:1.0	.	1200;1200	O15054;O15054-1	KDM6B_HUMAN;.	A	1200	ENSP00000254846:V1200A;ENSP00000412513:V1200A	ENSP00000254846:V1200A	V	+	2	0	KDM6B	7694146	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	3.751000	0.55165	2.198000	0.70561	0.533000	0.62120	GTC		0.612	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		15	19	0	0	0	1	0	15	19				
FAM222B	55731	broad.mit.edu	37	17	27086078	27086078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27086078C>T	ENST00000341217.5	-	3	1114	c.899G>A	c.(898-900)cGc>cAc	p.R300H	FAM222B_ENST00000452648.3_Missense_Mutation_p.R300H|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Missense_Mutation_p.R300H	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	300																	GAGCAGACTGCGACTAATGGG	0.597																																						ENST00000341217.5																			0											c.(898-900)cGc>cAc		family with sequence similarity 222, member B							49.0	56.0	54.0					17																	27086078		2170	4266	6436	SO:0001583	missense	55731							g.chr17:27086078C>T	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.899G>A	17.37:g.27086078C>T	ENSP00000343115:p.Arg300His					FAM222B_ENST00000452648.3_Missense_Mutation_p.R300H|FAM222B_ENST00000581407.1_Missense_Mutation_p.R300H|FAM222B_ENST00000582266.1_3'UTR	p.R300H	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN			3	1114	-			300					Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	ENST00000341217.5	37	c.899G>A	CCDS45637.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860849	0.71834	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.40225	1.04;1.04	4.28	4.28	0.50868	.	0.054859	0.85682	D	0.000000	T	0.46833	0.1413	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	P	0.53401	0.725	T	0.31586	-0.9938	10	0.27082	T	0.32	-2.2525	16.2413	0.82409	0.0:1.0:0.0:0.0	.	300	Q8WU58	CQ063_HUMAN	H	300	ENSP00000343115:R300H;ENSP00000413645:R300H	ENSP00000343115:R300H	R	-	2	0	C17orf63	24110205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.311000	0.78958	2.382000	0.81193	0.655000	0.94253	CGC		0.597	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		6	8	0	0	0	1	0	6	8				
GPR158	57512	broad.mit.edu	37	10	25464695	25464695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25464695G>A	ENST00000376351.3	+	1	705	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	116					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCAGCCCTGGCCAGCGCGCA	0.657																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(346-348)Gcc>Acc		G protein-coupled receptor 158							43.0	46.0	45.0					10																	25464695		2202	4300	6502	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464695G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.346G>A	10.37:g.25464695G>A	ENSP00000365529:p.Ala116Thr					GPR158-AS1_ENST00000449643.1_RNA	p.A116T	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	705	+			116					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.346G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258126	0.23051	.	.	ENSG00000151025	ENST00000376351	T	0.76186	-1.0	4.54	3.62	0.41486	.	0.236967	0.28515	N	0.015079	T	0.68476	0.3005	L	0.36672	1.1	0.24288	N	0.995178	P	0.43352	0.804	P	0.46585	0.521	T	0.59037	-0.7529	10	0.33940	T	0.23	.	11.0363	0.47802	0.0:0.366:0.634:0.0	.	116	Q5T848	GP158_HUMAN	T	116	ENSP00000365529:A116T	ENSP00000365529:A116T	A	+	1	0	GPR158	25504701	0.870000	0.30015	0.876000	0.34364	0.069000	0.16628	2.915000	0.48805	1.115000	0.41800	-0.499000	0.04595	GCC		0.657	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		28	39	0	0	0	1	0	28	39				
SHPK	23729	broad.mit.edu	37	17	3513958	3513958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3513958G>A	ENST00000225519.3	-	7	1435	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	445					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AAAGCCCTCTGCACCTCCTGC	0.602																																						ENST00000225519.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1333-1335)Cag>Tag		sedoheptulokinase							169.0	163.0	165.0					17																	3513958		2203	4300	6503	SO:0001587	stop_gained	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3513958G>A	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1333C>T	17.37:g.3513958G>A	ENSP00000225519:p.Gln445*						p.Q445*	NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1435	-			445					B2R640|Q8WUH3	Nonsense_Mutation	SNP	ENST00000225519.3	37	c.1333C>T	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	37	6.112392	0.97296	.	.	ENSG00000197417	ENST00000225519	.	.	.	4.66	3.59	0.41128	.	0.054981	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-13.2153	11.299	0.49294	0.0:0.403:0.597:0.0	.	.	.	.	X	445	.	ENSP00000225519:Q445X	Q	-	1	0	SHPK	3460707	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.808000	0.69165	2.314000	0.78098	0.563000	0.77884	CAG		0.602	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			27	87	0	0	0	1	0	27	87				
RHOC	389	broad.mit.edu	37	1	113244177	113244177	+	Silent	SNP	G	G	A	rs372171960		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113244177G>A	ENST00000285735.2	-	6	1776	c.567C>T	c.(565-567)ggC>ggT	p.G189G	RHOC_ENST00000369642.3_Silent_p.G189G|RHOC_ENST00000339083.7_Silent_p.G189G|RHOC_ENST00000369633.2_Silent_p.G189G|RP11-426L16.10_ENST00000471038.2_5'Flank|RHOC_ENST00000369632.2_Silent_p.G189G|RHOC_ENST00000369637.1_Silent_p.G189G|RHOC_ENST00000369636.2_Missense_Mutation_p.A169V|RHOC_ENST00000369638.2_Silent_p.G189G			P08134	RHOC_HUMAN	ras homolog family member C	189					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGGGACAGCCCCTCCGAC	0.602																																						ENST00000369636.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(505-507)gCt>gTt		ras homolog family member C		G	,,	0,4406		0,0,2203	95.0	92.0	93.0		567,567,567	2.1	1.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RHOC	NM_001042678.1,NM_001042679.1,NM_175744.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	189/194,189/194,189/194	113244177	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113244177G>A	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.567C>T	1.37:g.113244177G>A						RHOC_ENST00000369642.3_Silent_p.G189G|RHOC_ENST00000369632.2_Silent_p.G189G|RHOC_ENST00000369633.2_Silent_p.G189G|RHOC_ENST00000339083.7_Silent_p.G189G|RHOC_ENST00000285735.2_Silent_p.G189G|RHOC_ENST00000369637.1_Silent_p.G189G|RHOC_ENST00000369638.2_Silent_p.G189G	p.A169V			P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	555	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	0					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.506C>T	CCDS854.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206303	0.58343	0.0	1.16E-4	ENSG00000155366	ENST00000369636	T	0.72394	-0.65	5.13	2.06	0.26882	.	1.575430	0.04718	N	0.418831	T	0.56863	0.2014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57452	-0.7809	7	0.87932	D	0	-0.0011	2.7579	0.05298	0.1614:0.1441:0.5452:0.1492	.	.	.	.	V	169	ENSP00000358650:A169V	ENSP00000358650:A169V	A	-	2	0	RHOC	113045700	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.899000	0.39818	0.136000	0.18733	0.563000	0.77884	GCT		0.602	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		29	41	0	0	0	1	0	29	41				
ZXDC	79364	broad.mit.edu	37	3	126178581	126178581	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178581C>A	ENST00000389709.3	-	7	2181		c.e7-1			NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C						positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCCACTTTCCTGAGACCAAA	0.507																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.e7-1		ZXD family zinc finger C							181.0	194.0	189.0					3																	126178581		1962	4152	6114	SO:0001630	splice_region_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178581C>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2128-1G>T	3.37:g.126178581C>A								NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2181	-								C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Splice_Site	SNP	ENST00000389709.3	37		CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579647	0.86645	.	.	ENSG00000070476	ENST00000389709	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1694	0.86825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZXDC	127661271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.716000	0.84723	2.670000	0.90874	0.585000	0.79938	.		0.507	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112	Intron	27	226	1	0	2.70662e-09	1	3.28559e-09	27	226				
TECTA	7007	broad.mit.edu	37	11	120998824	120998824	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120998824G>A	ENST00000392793.1	+	9	2409	c.2138G>A	c.(2137-2139)tGc>tAc	p.C713Y	TECTA_ENST00000264037.2_Missense_Mutation_p.C713Y			O75443	TECTA_HUMAN	tectorin alpha	713	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGACCGTGTGCCTGCTCAGC	0.662																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2137-2139)tGc>tAc		tectorin alpha							83.0	70.0	74.0					11																	120998824		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998824G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2138G>A	11.37:g.120998824G>A	ENSP00000376543:p.Cys713Tyr					TECTA_ENST00000264037.2_Missense_Mutation_p.C713Y	p.C713Y			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2409	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	713			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2138G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181080	0.57800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.83506	-1.73;-1.73	5.67	5.67	0.87782	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	M	0.74258	2.255	0.51233	D	0.999916	D	0.89917	1.0	D	0.91635	0.999	D	0.91740	0.5403	10	0.87932	D	0	.	19.7667	0.96346	0.0:0.0:1.0:0.0	.	713	O75443	TECTA_HUMAN	Y	713	ENSP00000376543:C713Y;ENSP00000264037:C713Y	ENSP00000264037:C713Y	C	+	2	0	TECTA	120504034	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	5.258000	0.65479	2.681000	0.91329	0.655000	0.94253	TGC		0.662	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		27	36	0	0	0	1	0	27	36				
ACER1	125981	broad.mit.edu	37	19	6309831	6309831	+	Missense_Mutation	SNP	C	C	T	rs368764098		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6309831C>T	ENST00000301452.4	-	4	442	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	122					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAGACCAGGCGGATGAACTG	0.612																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(364-366)cGc>cAc		alkaline ceramidase 1		C	HIS/ARG	0,4406		0,0,2203	103.0	77.0	86.0		365	2.0	0.0	19		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACER1	NM_133492.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	122/265	6309831	1,13005	2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309831C>T	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.365G>A	19.37:g.6309831C>T	ENSP00000301452:p.Arg122His						p.R122H	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			4	442	-			122						Missense_Mutation	SNP	ENST00000301452.4	37	c.365G>A	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	6.324	0.427861	0.11987	0.0	1.16E-4	ENSG00000167769	ENST00000301452	T	0.42513	0.97	4.28	2.04	0.26737	.	1.123250	0.06449	N	0.727333	T	0.34424	0.0897	L	0.40543	1.245	0.09310	N	1	P	0.44344	0.833	B	0.38056	0.264	T	0.21449	-1.0245	10	0.22109	T	0.4	-7.9971	12.0326	0.53406	0.0:0.6652:0.3348:0.0	.	122	Q8TDN7	ACER1_HUMAN	H	122	ENSP00000301452:R122H	ENSP00000301452:R122H	R	-	2	0	ACER1	6260831	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.138000	0.16016	0.259000	0.21709	-0.337000	0.08149	CGC		0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		14	21	0	0	0	1	0	14	21				
MRE11A	4361	broad.mit.edu	37	11	94224008	94224008	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94224008C>A	ENST00000323929.3	-	3	366	c.144G>T	c.(142-144)caG>caT	p.Q48H	MRE11A_ENST00000407439.3_Missense_Mutation_p.Q51H|ANKRD49_ENST00000544612.1_5'Flank|MRE11A_ENST00000323977.3_Missense_Mutation_p.Q48H|MRE11A_ENST00000393241.4_Missense_Mutation_p.Q48H|MRE11A_ENST00000540013.1_Missense_Mutation_p.Q48H|MRE11A_ENST00000536144.1_5'UTR	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	48					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTTTCCTGGGCAAGTC	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(142-144)caG>caT	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							143.0	141.0	142.0					11																	94224008		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94224008C>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.144G>T	11.37:g.94224008C>A	ENSP00000325863:p.Gln48His					MRE11A_ENST00000323977.3_Missense_Mutation_p.Q48H|MRE11A_ENST00000407439.3_Missense_Mutation_p.Q51H|MRE11A_ENST00000393241.4_Missense_Mutation_p.Q48H|MRE11A_ENST00000540013.1_Missense_Mutation_p.Q48H|MRE11A_ENST00000536144.1_5'UTR	p.Q48H	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			3	366	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	48					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.144G>T	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785463	0.31593	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013;ENST00000536754;ENST00000538923	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	4.46	2.56	0.30785	Metallophosphoesterase domain (1);	0.175083	0.49916	D	0.000129	T	0.79511	0.4458	L	0.33485	1.01	0.32872	D	0.509437	D;B;P	0.56287	0.975;0.006;0.926	P;B;P	0.56700	0.804;0.008;0.756	T	0.79600	-0.1736	10	0.42905	T	0.14	-3.2635	4.8896	0.13721	0.0:0.5367:0.0:0.4633	.	51;48;48	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	H	48;51;48;48;48;48;48	ENSP00000325863:Q48H;ENSP00000385614:Q51H;ENSP00000326094:Q48H;ENSP00000376933:Q48H;ENSP00000440986:Q48H;ENSP00000439511:Q48H;ENSP00000442809:Q48H	ENSP00000325863:Q48H	Q	-	3	2	MRE11A	93863656	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	0.864000	0.27926	0.865000	0.35603	0.462000	0.41574	CAG		0.333	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		35	78	1	0	1.03484e-13	1	1.31453e-13	35	78				
MAP3K9	4293	broad.mit.edu	37	14	71199843	71199843	+	Missense_Mutation	SNP	C	C	T	rs375119611		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71199843C>T	ENST00000554752.2	-	11	2242	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R725H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R476H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R762H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R481H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	748					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCTCGCAGCGGCGGTGGTG	0.652																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(2242-2244)cGc>cAc		mitogen-activated protein kinase kinase kinase 9		C	HIS/ARG	0,4396		0,0,2198	28.0	33.0	31.0		2285	4.8	1.0	14		31	1,8565		0,1,4282	no	missense	MAP3K9	NM_033141.2	29	0,1,6480	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	762/1119	71199843	1,12961	2198	4283	6481	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71199843C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2243G>A	14.37:g.71199843C>T	ENSP00000451612:p.Arg748His					MAP3K9_ENST00000554146.1_Missense_Mutation_p.R476H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R725H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R762H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R481H	p.R748H			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2242	-			748					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.2243G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.336394	0.81801	0.0	1.17E-4	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.77	4.77	0.60923	.	0.056047	0.64402	D	0.000001	T	0.50429	0.1615	L	0.52573	1.65	0.51233	D	0.999915	D;D;D;D	0.76494	0.999;0.99;0.997;0.996	D;P;P;D	0.64595	0.927;0.579;0.901;0.927	T	0.51076	-0.8751	10	0.72032	D	0.01	.	12.4225	0.55527	0.0:0.9196:0.0:0.0803	.	476;748;762;481	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	748;762;481;725;476;464	ENSP00000451612:R748H;ENSP00000451038:R481H;ENSP00000370649:R725H;ENSP00000451921:R476H	ENSP00000005198:R762H	R	-	2	0	MAP3K9	70269596	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.896000	0.69822	2.478000	0.83669	0.561000	0.74099	CGC		0.652	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			6	45	0	0	0	1	0	6	45				
ERBB2IP	55914	broad.mit.edu	37	5	65349795	65349795	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:65349795C>A	ENST00000284037.5	+	21	3038	c.2649C>A	c.(2647-2649)atC>atA	p.I883I	ERBB2IP_ENST00000506030.1_Silent_p.I883I|ERBB2IP_ENST00000380938.2_Silent_p.I883I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Silent_p.I883I|ERBB2IP_ENST00000380943.2_Silent_p.I883I|ERBB2IP_ENST00000380935.1_Silent_p.I883I|ERBB2IP_ENST00000508515.1_Silent_p.I883I|ERBB2IP_ENST00000511297.1_Silent_p.I879I|ERBB2IP_ENST00000380936.1_Silent_p.I883I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	883					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCTAAAAATCTATGATATTC	0.403																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2647-2649)atC>atA		erbb2 interacting protein							443.0	440.0	441.0					5																	65349795		2203	4300	6503	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349795C>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2649C>A	5.37:g.65349795C>A						ERBB2IP_ENST00000380938.2_Silent_p.I883I|ERBB2IP_ENST00000380939.2_Silent_p.I883I|ERBB2IP_ENST00000511297.1_Silent_p.I879I|ERBB2IP_ENST00000380936.1_Silent_p.I883I|ERBB2IP_ENST00000380943.2_Silent_p.I883I|ERBB2IP_ENST00000506030.1_Silent_p.I883I|ERBB2IP_ENST00000380935.1_Silent_p.I883I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Silent_p.I883I	p.I883I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3038	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	883					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.2649C>A	CCDS58953.1																																																																																				0.403	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		20	950	1	0	0.00400662	1	0.00423533	20	950				
AKR1E2	83592	broad.mit.edu	37	10	4884652	4884652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4884652A>G	ENST00000298375.7	+	8	864	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I167V|AKR1E2_ENST00000334019.4_Missense_Mutation_p.I208V|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I208V	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	265						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGTGATAGTGATCCCCGGATC	0.393																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(793-795)Atc>Gtc		aldo-keto reductase family 1, member E2							166.0	164.0	165.0					10																	4884652		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4884652A>G	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.793A>G	10.37:g.4884652A>G	ENSP00000298375:p.Ile265Val					AKR1E2_ENST00000334019.4_Missense_Mutation_p.I208V|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I208V|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I167V|AKR1E2_ENST00000525281.1_3'UTR	p.I265V	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			8	864	+			265					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.793A>G	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	A	6.048	0.377174	0.11466	.	.	ENSG00000165568	ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253;ENST00000487985	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.0	4.0	0.46444	NADP-dependent oxidoreductase domain (3);	0.058042	0.64402	D	0.000003	T	0.44705	0.1306	M	0.67569	2.06	0.23589	N	0.997343	D;P;P;P;P	0.58970	0.984;0.854;0.697;0.742;0.858	D;P;P;P;B	0.70016	0.967;0.54;0.514;0.646;0.386	T	0.19712	-1.0297	10	0.62326	D	0.03	.	9.4629	0.38796	1.0:0.0:0.0:0.0	.	169;167;208;265;208	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	V	265;208;208;167;47	ENSP00000298375:I265V;ENSP00000432947:I208V;ENSP00000335034:I208V;ENSP00000335603:I167V	ENSP00000298375:I265V	I	+	1	0	AKR1E2	4874652	1.000000	0.71417	0.360000	0.25837	0.093000	0.18481	7.344000	0.79328	1.820000	0.53075	0.260000	0.18958	ATC		0.393	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		47	69	0	0	0	1	0	47	69				
FUK	197258	broad.mit.edu	37	16	70515339	70515339	+	IGR	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70515339T>C	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Missense_Mutation_p.T720A	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTCACCGTGGTAAGGTAGGCA	0.597																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(2158-2160)Acc>Gcc		component of oligomeric golgi complex 4							98.0	90.0	93.0					16																	70515339		2198	4300	6498	SO:0001628	intergenic_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70515339T>C		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70515339T>C							p.T720A	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			18	2179	-		Ovarian(137;0.0694)	716			D domain.		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.2158A>G	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315608	0.60524	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.47528	0.84	5.97	5.97	0.96955	.	0.044434	0.85682	D	0.000000	T	0.51534	0.1680	L	0.51422	1.61	0.80722	D	1	B;P;B;P	0.50156	0.422;0.932;0.318;0.869	B;B;B;P	0.47645	0.063;0.411;0.037;0.553	T	0.51301	-0.8723	10	0.46703	T	0.11	-20.8385	16.4504	0.83984	0.0:0.0:0.0:1.0	.	626;694;716;176	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	A	720;695;176;378	ENSP00000315775:T720A	ENSP00000315775:T720A	T	-	1	0	COG4	69072840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.288000	0.76882	0.533000	0.62120	ACC		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		6	110	0	0	0	1	0	6	110				
VTI1A	143187	broad.mit.edu	37	10	114298078	114298078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114298078C>T	ENST00000393077.2	+	5	532	c.416C>T	c.(415-417)gCa>gTa	p.A139V	VTI1A_ENST00000432306.1_Missense_Mutation_p.A139V	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	139					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TACCAAATAGCAGTGGAAACC	0.438			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(415-417)gCa>gTa		vesicle transport through interaction with t-SNAREs 1A							102.0	105.0	104.0					10																	114298078		2203	4300	6503	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114298078C>T	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.416C>T	10.37:g.114298078C>T	ENSP00000376792:p.Ala139Val					VTI1A_ENST00000432306.1_Missense_Mutation_p.A139V	p.A139V	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	5	532	+		Colorectal(252;0.0314)|Breast(234;0.183)	139					A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.416C>T	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973471	0.74246	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	T;T	0.76186	-1.0;-1.0	5.68	5.68	0.88126	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.50993	1.605	0.80722	D	1	B;P	0.52061	0.363;0.95	B;P	0.55303	0.336;0.773	T	0.75761	-0.3204	10	0.30078	T	0.28	-13.3794	20.1615	0.98135	0.0:1.0:0.0:0.0	.	139;139	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	V	139	ENSP00000376792:A139V;ENSP00000395017:A139V	ENSP00000376792:A139V	A	+	2	0	VTI1A	114288068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.203000	0.77864	2.835000	0.97688	0.650000	0.86243	GCA		0.438	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			27	61	0	0	0	1	0	27	61				
LOC150776	150776	broad.mit.edu	37	2	132276629	132276629	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132276629C>T	ENST00000438378.2	+	0	1949					NR_026922.1																						GCAGGTCCTGCGCCTCGCTCA	0.642																																						ENST00000438378.2																			0																																																			0							g.chr2:132276629C>T																													2.37:g.132276629C>T								NR_026922.1						0	1949	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.642	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			13	11	0	0	0	1	0	13	11				
FBXW7	55294	broad.mit.edu	37	4	153303537	153303537	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153303537C>T	ENST00000281708.4	-	2	1731				FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000296555.5_De_novo_Start_OutOfFrame	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATACAGGCACATTACTAAAA	0.348			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000296555.5				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462								F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							46.0	42.0	43.0					4																	153303537		2203	4299	6502	SO:0001627	intron_variant	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153303537C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.501+28917G>A	4.37:g.153303537C>T						FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron		NM_001013415.1	NP_001013433.1	Q969H0	FBXW7_HUMAN			0	130	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Translation_Start_Site	SNP	ENST00000281708.4	37		CCDS3777.1																																																																																				0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			11	18	0	0	0	1	0	11	18				
RSRC1	51319	broad.mit.edu	37	3	157841751	157841751	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157841751G>A	ENST00000295930.3	+	3	453	c.291G>A	c.(289-291)caG>caA	p.Q97Q	RSRC1_ENST00000475278.2_Silent_p.Q97Q|RSRC1_ENST00000312179.6_Silent_p.Q97Q|RSRC1_ENST00000480820.1_Silent_p.Q97Q|RSRC1_ENST00000464171.1_Silent_p.Q97Q	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	97	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATAGAGTTCAGAGGTCTAGGT	0.413																																						ENST00000464171.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(289-291)caG>caA		arginine/serine-rich coiled-coil 1							94.0	93.0	93.0					3																	157841751		2203	4300	6503	SO:0001819	synonymous_variant	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157841751G>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.291G>A	3.37:g.157841751G>A						RSRC1_ENST00000295930.3_Silent_p.Q97Q|RSRC1_ENST00000312179.6_Silent_p.Q97Q|RSRC1_ENST00000475278.2_Silent_p.Q97Q|RSRC1_ENST00000480820.1_Silent_p.Q97Q	p.Q97Q	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		3	416	+			97			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Silent	SNP	ENST00000295930.3	37	c.291G>A	CCDS3181.1																																																																																				0.413	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		17	42	0	0	0	1	0	17	42				
LCLAT1	253558	broad.mit.edu	37	2	30863415	30863415	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30863415A>T	ENST00000309052.4	+	7	1384	c.1175A>T	c.(1174-1176)gAg>gTg	p.E392V	LCLAT1_ENST00000540623.1_Missense_Mutation_p.E354V|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E354V|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	392					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGTGGACTGGAGATCATAGAA	0.343																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(1174-1176)gAg>gTg		lysocardiolipin acyltransferase 1							119.0	118.0	118.0					2																	30863415		2203	4300	6503	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30863415A>T	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1175A>T	2.37:g.30863415A>T	ENSP00000310551:p.Glu392Val					LCLAT1_ENST00000379509.3_Missense_Mutation_p.E354V|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E354V	p.E392V	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			7	1384	+			392					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.1175A>T	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074527	0.55646	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.37235	1.26;1.21;1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52946	-0.8507	10	0.72032	D	0.01	-25.208	16.0985	0.81148	1.0:0.0:0.0:0.0	.	392	Q6UWP7	LCLT1_HUMAN	V	354;392;354	ENSP00000368823:E354V;ENSP00000310551:E392V;ENSP00000442857:E354V	ENSP00000310551:E392V	E	+	2	0	LCLAT1	30716919	1.000000	0.71417	0.977000	0.42913	0.061000	0.15899	8.711000	0.91396	2.197000	0.70478	0.455000	0.32223	GAG		0.343	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		5	105	0	0	0	1	0	5	105				
SPECC1	92521	broad.mit.edu	37	17	20108498	20108498	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20108498A>G	ENST00000261503.5	+	4	1187	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395522.2_Missense_Mutation_p.K298R|SPECC1_ENST00000395525.3_Missense_Mutation_p.K298R|SPECC1_ENST00000395529.3_Missense_Mutation_p.K379R|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Missense_Mutation_p.K298R|SPECC1_ENST00000395527.4_Missense_Mutation_p.K379R|SPECC1_ENST00000536879.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	379					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGATACAAAAGATGGAAGAA	0.433																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(892-894)aAg>aGg		sperm antigen with calponin homology and coiled-coil domains 1							93.0	100.0	98.0					17																	20108498		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108498A>G	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1136A>G	17.37:g.20108498A>G	ENSP00000261503:p.Lys379Arg					SPECC1_ENST00000395522.2_Missense_Mutation_p.K298R|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.K379R|SPECC1_ENST00000395529.3_Missense_Mutation_p.K379R|SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.K379R|SPECC1_ENST00000395525.3_Missense_Mutation_p.K298R	p.K298R	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1101	+			379			Ser-rich.		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.893A>G	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577740	0.45902	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	5.11	4.02	0.46733	.	0.042575	0.85682	N	0.000000	T	0.06371	0.0164	L	0.43701	1.375	0.80722	D	1	B;B;B;B;B	0.33288	0.02;0.406;0.406;0.406;0.042	B;B;B;B;B	0.31191	0.018;0.088;0.125;0.125;0.049	T	0.28332	-1.0047	10	0.59425	D	0.04	-33.6363	8.6681	0.34134	0.9051:0.0:0.0949:0.0	.	379;298;298;379;379	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	R	379;379;379;298;298;298	ENSP00000261503:K379R;ENSP00000378900:K379R;ENSP00000378893:K298R;ENSP00000378896:K298R	ENSP00000261503:K379R	K	+	2	0	SPECC1	20049090	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	7.187000	0.77730	0.899000	0.36444	0.533000	0.62120	AAG		0.433	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		7	102	0	0	0	1	0	7	102				
RIMBP2	23504	broad.mit.edu	37	12	130926933	130926933	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130926933G>T	ENST00000261655.4	-	8	1076	c.913C>A	c.(913-915)Ctc>Atc	p.L305I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.L213I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.L213I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	305	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTTTGATGAGGGTGATTTTT	0.567																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(913-915)Ctc>Atc		RIMS binding protein 2							163.0	151.0	155.0					12																	130926933		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926933G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.913C>A	12.37:g.130926933G>T	ENSP00000261655:p.Leu305Ile					RIMBP2_ENST00000536002.1_Missense_Mutation_p.L213I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.L213I	p.L305I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1076	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	305			Fibronectin type-III 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.913C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038358	0.54896	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.54675	0.56;0.56;0.56	4.28	4.28	0.50868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.64724	0.2624	L	0.57536	1.79	0.46499	D	0.999075	D;D	0.69078	0.982;0.997	P;D	0.72625	0.888;0.978	T	0.61589	-0.7032	10	0.27082	T	0.32	-22.7646	11.9049	0.52705	0.0:0.0:0.8256:0.1744	.	213;305	O15034-2;O15034	.;RIMB2_HUMAN	I	305;213;213;213	ENSP00000261655:L305I;ENSP00000440347:L213I;ENSP00000439159:L213I	ENSP00000261655:L305I	L	-	1	0	RIMBP2	129492886	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	4.673000	0.61604	1.911000	0.55334	0.436000	0.28706	CTC		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		41	74	1	0	6.68952e-21	1	8.79032e-21	41	74				
C1orf106	55765	broad.mit.edu	37	1	200869240	200869240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200869240G>A	ENST00000367342.4	+	4	644	c.444G>A	c.(442-444)acG>acA	p.T148T	C1orf106_ENST00000413687.2_Silent_p.T63T	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	148										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGAGCTGACGGGCACCTTGC	0.622																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(442-444)acG>acA		chromosome 1 open reading frame 106							42.0	37.0	39.0					1																	200869240		2202	4300	6502	SO:0001819	synonymous_variant	55765							g.chr1:200869240G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.444G>A	1.37:g.200869240G>A						C1orf106_ENST00000413687.2_Silent_p.T63T	p.T148T	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			4	644	+			148					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.444G>A																																																																																					0.622	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		7	10	0	0	0	1	0	7	10				
CLEC12A	160364	broad.mit.edu	37	12	10131982	10131982	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10131982A>C	ENST00000304361.4	+	3	420	c.238A>C	c.(238-240)Aac>Cac	p.N80H	CLEC12A_ENST00000350667.4_Missense_Mutation_p.N47H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.N90H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.N80H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CAAACTACAAAACATCAGTGA	0.333																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(238-240)Aac>Cac		C-type lectin domain family 12, member A							49.0	46.0	47.0					12																	10131982		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10131982A>C	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.238A>C	12.37:g.10131982A>C	ENSP00000302804:p.Asn80His					CLEC12A_ENST00000350667.4_Missense_Mutation_p.N47H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.N80H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.N90H	p.N80H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			3	420	+			80					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.238A>C	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547986	0.45383	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.06687	4.52;3.27;4.53;3.97;4.41	4.62	3.46	0.39613	.	.	.	.	.	T	0.19167	0.0460	L	0.56769	1.78	0.09310	N	0.999992	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.70935	0.971;0.936;0.971	T	0.11155	-1.0599	9	0.20519	T	0.43	.	7.5109	0.27573	0.8975:0.0:0.1025:0.0	.	47;80;90	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	H	90;80;80;80;47	ENSP00000347916:N90H;ENSP00000379764:N80H;ENSP00000302804:N80H;ENSP00000405244:N80H;ENSP00000345448:N47H	ENSP00000302804:N80H	N	+	1	0	CLEC12A	10023249	0.005000	0.15991	0.288000	0.24862	0.216000	0.24613	1.147000	0.31602	0.873000	0.35799	0.528000	0.53228	AAC		0.333	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		7	11	0	0	0	1	0	7	11				
RSPO2	340419	broad.mit.edu	37	8	108913404	108913404	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108913404T>G	ENST00000276659.5	-	6	1251	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	RSPO2_ENST00000517781.1_Missense_Mutation_p.K147Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.K144Q|RSPO2_ENST00000378439.2_Missense_Mutation_p.K147Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	211					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tccttcgccttTGGTGTTCTC	0.423																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(631-633)Aag>Cag		R-spondin 2							72.0	65.0	67.0					8																	108913404		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108913404T>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.631A>C	8.37:g.108913404T>G	ENSP00000276659:p.Lys211Gln					RSPO2_ENST00000378439.2_Missense_Mutation_p.K147Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.K144Q|RSPO2_ENST00000517781.1_Missense_Mutation_p.K147Q	p.K211Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		6	1251	-			211					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.631A>C	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.924116	0.52653	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	5.95	5.95	0.96441	.	0.262657	0.36268	N	0.002682	T	0.77485	0.4137	N	0.08118	0	0.46849	D	0.999228	D;D	0.76494	0.989;0.999	D;D	0.78314	0.978;0.991	T	0.81690	-0.0818	10	0.49607	T	0.09	1.8026	16.1057	0.81220	0.0:0.0:0.0:1.0	.	211;147	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	Q	144;147;147;211;144	ENSP00000428940:K144Q;ENSP00000427937:K147Q;ENSP00000367698:K147Q;ENSP00000276659:K211Q;ENSP00000428614:K144Q	ENSP00000276659:K211Q	K	-	1	0	RSPO2	108982580	1.000000	0.71417	0.904000	0.35570	0.923000	0.55619	5.486000	0.66856	2.281000	0.76405	0.528000	0.53228	AAG		0.423	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		14	22	0	0	0	1	0	14	22				
LRBA	987	broad.mit.edu	37	4	151791759	151791759	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151791759C>A	ENST00000357115.3	-	20	2611		c.e20-1		LRBA_ENST00000510413.1_Splice_Site|LRBA_ENST00000535741.1_Splice_Site|LRBA_ENST00000507224.1_Splice_Site	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTATAAGAATCTACAGAAGTA	0.313																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e20-1		LPS-responsive vesicle trafficking, beach and anchor containing							89.0	89.0	89.0					4																	151791759		2203	4293	6496	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151791759C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2368-1G>T	4.37:g.151791759C>A						LRBA_ENST00000357115.3_Splice_Site|LRBA_ENST00000507224.1_Splice_Site|LRBA_ENST00000510413.1_Splice_Site				P50851	LRBA_HUMAN			20	2841	-	all_hematologic(180;0.151)							Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Splice_Site	SNP	ENST00000357115.3	37		CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502122	0.85176	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRBA	152011209	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	5.875000	0.69660	2.678000	0.91216	0.460000	0.39030	.		0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Intron	5	62	1	0	0.000602214	1	0.000649039	5	62				
POGZ	23126	broad.mit.edu	37	1	151400673	151400673	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151400673G>A	ENST00000271715.2	-	6	1099	c.785C>T	c.(784-786)aCa>aTa	p.T262I	POGZ_ENST00000368863.2_Missense_Mutation_p.T167I|POGZ_ENST00000491586.1_Missense_Mutation_p.T209I|POGZ_ENST00000361398.3_Missense_Mutation_p.T209I|POGZ_ENST00000409503.1_Missense_Mutation_p.T262I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Missense_Mutation_p.T209I|POGZ_ENST00000392723.1_Missense_Mutation_p.T209I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	262					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)			GGTTGGCTGTGTGGCAGTGGG	0.577																																						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.(784-786)aCa>aTa		pogo transposable element with ZNF domain							234.0	211.0	219.0					1																	151400673		2203	4300	6503	SO:0001583	missense	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.chr1:151400673G>A	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.785C>T	1.37:g.151400673G>A	ENSP00000271715:p.Thr262Ile					POGZ_ENST00000392723.1_Missense_Mutation_p.T209I|POGZ_ENST00000491586.1_Missense_Mutation_p.T209I|POGZ_ENST00000361398.3_Missense_Mutation_p.T209I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Missense_Mutation_p.T167I|POGZ_ENST00000531094.1_Missense_Mutation_p.T209I|POGZ_ENST00000409503.1_Missense_Mutation_p.T262I	p.T262I	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)		6	1099	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		262					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.785C>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472611	0.63737	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.17	4.23	0.50019	.	0.293880	0.29073	N	0.013230	T	0.75744	0.3891	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.995;0.995;0.999;0.999;0.997;0.997;0.995	P;P;D;D;P;P;P	0.80764	0.795;0.72;0.951;0.994;0.899;0.855;0.795	T	0.83078	-0.0139	10	0.72032	D	0.01	-1.9294	12.9918	0.58622	0.0:0.3107:0.6893:0.0	.	209;262;167;262;209;209;262	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	I	209;262;209;167;262;209;209;262	ENSP00000376484:T209I;ENSP00000271715:T262I;ENSP00000354467:T209I;ENSP00000357856:T167I;ENSP00000386836:T262I;ENSP00000431259:T209I;ENSP00000418408:T209I	ENSP00000271715:T262I	T	-	2	0	POGZ	149667297	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	2.436000	0.44819	1.341000	0.45600	0.563000	0.77884	ACA		0.577	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		9	51	0	0	0	1	0	9	51				
NRAP	4892	broad.mit.edu	37	10	115372045	115372045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115372045G>A	ENST00000359988.3	-	30	3690	c.3446C>T	c.(3445-3447)gCa>gTa	p.A1149V	NRAP_ENST00000369360.3_Missense_Mutation_p.A1122V|NRAP_ENST00000360478.3_Missense_Mutation_p.A1114V|NRAP_ENST00000369358.4_Missense_Mutation_p.A1157V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGTCTTCTGCCAAGGAAGT	0.562																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3469-3471)gCa>gTa		nebulin-related anchoring protein							119.0	110.0	113.0					10																	115372045		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115372045G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3446C>T	10.37:g.115372045G>A	ENSP00000353078:p.Ala1149Val					NRAP_ENST00000360478.3_Missense_Mutation_p.A1114V|NRAP_ENST00000359988.3_Missense_Mutation_p.A1149V|NRAP_ENST00000369360.3_Missense_Mutation_p.A1122V	p.A1157V			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	30	3714	-		Colorectal(252;0.0233)|Breast(234;0.188)	1149						Missense_Mutation	SNP	ENST00000359988.3	37	c.3470C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845024	0.71603	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.62	3.72	0.42706	.	0.224065	0.47455	D	0.000223	T	0.28134	0.0694	L	0.38838	1.175	0.35126	D	0.767545	B;B;B	0.29136	0.151;0.234;0.151	B;B;B	0.35182	0.097;0.197;0.097	T	0.25950	-1.0117	10	0.23302	T	0.38	.	15.03	0.71698	0.0:0.0:0.7399:0.2601	.	1149;1114;1149	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	1157;1122;1149;1114	ENSP00000358365:A1157V;ENSP00000358367:A1122V;ENSP00000353078:A1149V;ENSP00000353666:A1114V	ENSP00000353078:A1149V	A	-	2	0	NRAP	115362035	1.000000	0.71417	0.724000	0.30704	0.997000	0.91878	4.043000	0.57354	0.800000	0.34041	0.655000	0.94253	GCA		0.562	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		33	44	0	0	0	1	0	33	44				
EGFR	1956	broad.mit.edu	37	7	55233088	55233088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55233088C>T	ENST00000275493.2	+	15	2015	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	EGFR_ENST00000455089.1_Missense_Mutation_p.A568V|EGFR_ENST00000344576.2_Missense_Mutation_p.A613V|EGFR_ENST00000442591.1_Missense_Mutation_p.A613V|EGFR_ENST00000454757.2_Missense_Mutation_p.A560V|EGFR_ENST00000342916.3_Missense_Mutation_p.A613V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	613					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TACGCAGACGCCGGCCATGTG	0.542		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1837-1839)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						82.0	72.0	75.0					7																	55233088		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233088C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1838C>T	7.37:g.55233088C>T	ENSP00000275493:p.Ala613Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.A613V|EGFR_ENST00000342916.3_Missense_Mutation_p.A613V|EGFR_ENST00000454757.2_Missense_Mutation_p.A560V|EGFR_ENST00000442591.1_Missense_Mutation_p.A613V|EGFR_ENST00000455089.1_Missense_Mutation_p.A568V	p.A613V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2015	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		613					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1838C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644141	0.14451	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.57	4.68	0.58851	Growth factor, receptor (1);	0.423178	0.28834	N	0.013999	T	0.32675	0.0837	L	0.39326	1.205	0.26963	N	0.965768	B;B;B;B	0.18968	0.005;0.032;0.005;0.011	B;B;B;B	0.10450	0.001;0.005;0.005;0.003	T	0.16394	-1.0404	10	0.30078	T	0.28	.	10.6434	0.45606	0.149:0.7074:0.1436:0.0	.	568;613;613;613	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	568;613;483;613;613;613;560;407	ENSP00000415559:A568V;ENSP00000342376:A613V;ENSP00000345973:A613V;ENSP00000275493:A613V;ENSP00000410031:A613V;ENSP00000395243:A560V	ENSP00000275493:A613V	A	+	2	0	EGFR	55200582	0.072000	0.21174	0.066000	0.19879	0.169000	0.22640	0.724000	0.25954	1.476000	0.48215	0.655000	0.94253	GCC		0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		11	55	0	0	0	1	0	11	55				
TAF15	8148	broad.mit.edu	37	17	34173933	34173933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34173933G>A	ENST00000588240.1	+	16	1878	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H	TAF15_ENST00000311979.3_Missense_Mutation_p.R585H|TAF15_ENST00000592237.1_Missense_Mutation_p.A393T	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATCAGCGCAACCGACCA	0.428			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1762-1764)cGc>cAc		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							146.0	139.0	141.0					17																	34173933		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34173933G>A	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1763G>A	17.37:g.34173933G>A	ENSP00000466950:p.Arg588His					TAF15_ENST00000592237.1_Missense_Mutation_p.A393T|TAF15_ENST00000311979.3_Missense_Mutation_p.R585H	p.R588H	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	16	1878	+		Ovarian(249;0.17)	588			Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1763G>A	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.053140	0.36181	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.88	3.9	0.45041	.	.	.	.	.	T	0.27454	0.0674	N	0.16656	0.425	0.25806	N	0.984455	B;B	0.18461	0.016;0.028	B;B	0.09377	0.002;0.004	T	0.20371	-1.0277	8	0.87932	D	0	4.1679	9.0636	0.36449	0.1039:0.0:0.8961:0.0	.	588;585	Q92804;Q92804-2	RBP56_HUMAN;.	H	588;391	.	ENSP00000309558:R588H	R	+	2	0	TAF15	31198046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.604000	0.74150	1.032000	0.39892	0.454000	0.30748	CGC		0.428	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		32	51	0	0	0	1	0	32	51				
RHOF	54509	broad.mit.edu	37	12	122217535	122217535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122217535G>A	ENST00000267205.2	-	5	1133	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	TMEM120B_ENST00000538055.1_Intron|RHOF_ENST00000537265.1_Missense_Mutation_p.L69F|TMEM120B_ENST00000449592.2_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	169					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCCAGGTAGAGAGCAGCTCGG	0.642																																						ENST00000267205.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(505-507)Ctc>Ttc		ras homolog family member F (in filopodia)							62.0	64.0	64.0					12																	122217535		2203	4300	6503	SO:0001583	missense	54509				actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	g.chr12:122217535G>A	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.505C>T	12.37:g.122217535G>A	ENSP00000267205:p.Leu169Phe					TMEM120B_ENST00000538055.1_Intron|TMEM120B_ENST00000449592.2_3'UTR	p.L169F	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)	5	1133	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		169					Q8WVB1|Q9NXH6	Missense_Mutation	SNP	ENST00000267205.2	37	c.505C>T	CCDS9222.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352376	0.61293	.	.	ENSG00000139725	ENST00000267205	T	0.77489	-1.1	4.88	4.88	0.63580	.	0.344513	0.27535	N	0.018934	T	0.77638	0.4160	L	0.35542	1.07	0.40855	D	0.983782	D	0.61080	0.989	P	0.59357	0.856	T	0.79591	-0.1740	10	0.72032	D	0.01	.	8.5705	0.33567	0.0:0.1651:0.6646:0.1703	.	169	Q9HBH0	RHOF_HUMAN	F	169	ENSP00000267205:L169F	ENSP00000267205:L169F	L	-	1	0	RHOF	120701918	0.001000	0.12720	0.924000	0.36721	0.517000	0.34286	0.955000	0.29188	2.243000	0.73865	0.655000	0.94253	CTC		0.642	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			21	62	0	0	0	1	0	21	62				
DMD	1756	broad.mit.edu	37	X	32382809	32382809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32382809C>A	ENST00000357033.4	-	36	5250	c.5044G>T	c.(5044-5046)Gaa>Taa	p.E1682*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1678*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1682	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAAAGTTTCCATGTGTTTC	0.348																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77	GRCh37	CM024592	DMD	M		c.(5044-5046)Gaa>Taa		dystrophin							199.0	152.0	168.0					X																	32382809		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32382809C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5044G>T	X.37:g.32382809C>A	ENSP00000354923:p.Glu1682*					DMD_ENST00000378677.2_Nonsense_Mutation_p.E1678*	p.E1682*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			36	5250	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1682			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.5044G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878009	0.33162	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000420596;ENST00000448370	.	.	.	5.38	5.38	0.77491	.	0.210963	0.22096	U	0.064690	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.3946	0.90494	0.0:1.0:0.0:0.0	.	.	.	.	X	1674;341;338;1678;1682;1682;1559;98;38	.	ENSP00000354923:E1682X	E	-	1	0	DMD	32292730	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.701000	0.54793	2.371000	0.80710	0.538000	0.68166	GAA		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		35	61	1	0	3.11337e-16	1	4.01248e-16	35	61				
MLH1	4292	broad.mit.edu	37	3	37056036	37056036	+	Splice_Site	SNP	G	G	A	rs267607798|rs267607791|rs267607789		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37056036G>A	ENST00000231790.2	+	9	1006		c.e9+1		MLH1_ENST00000536378.1_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000455445.2_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.?(8)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCATCAACCGTAAGTTAAAA	0.378		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		15469	0.001		0.0	False		,,,				2504	0.0					ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		9	Unknown(8)|Whole gene deletion(1)	p.?(8)|p.0?(1)	haematopoietic_and_lymphoid_tissue(8)|ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127	GRCh37	CD056182|CS011552|CS982272	MLH1	D|S		c.e9+1	Mismatch excision repair (MMR)	mutL homolog 1							53.0	48.0	50.0					3																	37056036		2203	4300	6503	SO:0001630	splice_region_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37056036G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.790+1G>A	3.37:g.37056036G>A						MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			9	1006	+								B4DI13|B4DQ11|E9PCU2	Splice_Site	SNP	ENST00000231790.2	37		CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381032	0.82792	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000456676;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5448	0.91042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLH1	37031040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.386000	0.97228	2.447000	0.82792	0.591000	0.81541	.		0.378	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	Intron	8	17	0	0	0	1	0	8	17				
LAMP5	24141	broad.mit.edu	37	20	9496681	9496681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9496681G>A	ENST00000246070.2	+	3	764	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	91						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											GCATTGACCCGGGGAGCTGAG	0.632																																						ENST00000246070.2																			0											c.(271-273)cGg>cAg		lysosomal-associated membrane protein family, member 5							33.0	33.0	33.0					20																	9496681		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9496681G>A	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.272G>A	20.37:g.9496681G>A	ENSP00000246070:p.Arg91Gln					LAMP5_ENST00000427562.2_Intron	p.R91Q	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN			3	764	+			91					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.272G>A	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155024	0.94686	.	.	ENSG00000125869	ENST00000246070	T	0.31510	1.49	6.08	6.08	0.98989	.	0.056910	0.64402	D	0.000001	T	0.46171	0.1379	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.10268	-1.0637	9	.	.	.	-17.8256	20.6634	0.99662	0.0:0.0:1.0:0.0	.	91	Q9UJQ1	CT103_HUMAN	Q	91	ENSP00000246070:R91Q	.	R	+	2	0	C20orf103	9444681	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.287000	0.95975	2.894000	0.99253	0.655000	0.94253	CGG		0.632	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		7	9	0	0	0	1	0	7	9				
MTHFD1L	25902	broad.mit.edu	37	6	151203944	151203944	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151203944G>A	ENST00000367321.3	+	5	738	c.464G>A	c.(463-465)gGc>gAc	p.G155D	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.G155D	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	155	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AGAGTACATGGCCTTGCCCTT	0.318																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(463-465)gGc>gAc		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							55.0	55.0	55.0					6																	151203944		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151203944G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.464G>A	6.37:g.151203944G>A	ENSP00000356290:p.Gly155Asp					MTHFD1L_ENST00000367307.4_Missense_Mutation_p.G155D	p.G155D	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	5	738	+		Ovarian(120;0.128)	155			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.464G>A	CCDS5228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.890554|3.890554	0.72524|0.72524	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367308|ENST00000367321;ENST00000367307;ENST00000423867	.|T;T;T	.|0.63096	.|1.69;-0.02;0.3	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84065|0.84065	0.5390|0.5390	H|H	0.96111|0.96111	3.77|3.77	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.85130	.|0.969;0.969;0.997	D|D	0.88677|0.88677	0.3199|0.3199	5|10	.|0.87932	.|D	.|0	.|.	16.55|16.55	0.84470|0.84470	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|155;155;155	.|B7ZM99;Q6UB35;Q6UB35-2	.|.;C1TM_HUMAN;.	T|D	115|155;155;45	.|ENSP00000356290:G155D;ENSP00000356276:G155D;ENSP00000400776:G45D	.|ENSP00000356276:G155D	A|G	+|+	1|2	0|0	MTHFD1L|MTHFD1L	151245637|151245637	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.593000|0.593000	0.36681|0.36681	7.623000|7.623000	0.83113|0.83113	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GCC|GGC		0.318	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		8	19	0	0	0	1	0	8	19				
NOC2L	26155	broad.mit.edu	37	1	892506	892506	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:892506C>T	ENST00000327044.6	-	3	376	c.327G>A	c.(325-327)ccG>ccA	p.P109P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	109					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGAGTGGAACGGCCCCTCTT	0.577																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(325-327)ccG>ccA		nucleolar complex associated 2 homolog (S. cerevisiae)							113.0	119.0	117.0					1																	892506		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:892506C>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.327G>A	1.37:g.892506C>T						NOC2L_ENST00000487214.1_5'UTR	p.P109P	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	376	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	109					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.327G>A	CCDS3.1																																																																																				0.577	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		58	81	0	0	0	1	0	58	81				
SLC9C1	285335	broad.mit.edu	37	3	111936295	111936295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111936295G>A	ENST00000305815.5	-	15	2036	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P547L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	595					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTACTTTGATGGGCCCTCTTT	0.289																																						ENST00000305815.5																			0											c.(1783-1785)cCa>cTa		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							107.0	109.0	109.0					3																	111936295		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111936295G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1784C>T	3.37:g.111936295G>A	ENSP00000306627:p.Pro595Leu					SLC9C1_ENST00000487372.1_Missense_Mutation_p.P547L	p.P595L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			15	2036	-			595					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1784C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.363128	0.24684	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79845	-1.28;-1.31	5.09	4.22	0.49857	.	0.385803	0.22381	N	0.060808	T	0.67702	0.2921	N	0.24115	0.695	0.35456	D	0.796087	B;B	0.30664	0.161;0.289	B;B	0.31869	0.137;0.048	T	0.70208	-0.4935	10	0.33940	T	0.23	.	9.6557	0.39925	0.0966:0.0:0.9034:0.0	.	547;595	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	595;547	ENSP00000306627:P595L;ENSP00000420688:P547L	ENSP00000306627:P595L	P	-	2	0	SLC9A10	113418985	0.995000	0.38212	0.688000	0.30117	0.006000	0.05464	2.180000	0.42537	1.291000	0.44653	0.552000	0.68991	CCA		0.289	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		21	51	0	0	0	1	0	21	51				
C9orf172	389813	broad.mit.edu	37	9	139741209	139741209	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741209G>A	ENST00000436881.1	+	1	2343	c.2343G>A	c.(2341-2343)tcG>tcA	p.S781S	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	781										endometrium(2)|large_intestine(1)|lung(6)	9						CCTACCTATCGCTGCGTGAGC	0.697																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2341-2343)tcG>tcA		chromosome 9 open reading frame 172							13.0	14.0	13.0					9																	139741209		1640	3561	5201	SO:0001819	synonymous_variant	389813							g.chr9:139741209G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2343G>A	9.37:g.139741209G>A							p.S781S	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2343	+			781						Silent	SNP	ENST00000436881.1	37	c.2343G>A	CCDS48059.1																																																																																				0.697	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		5	6	0	0	0	1	0	5	6				
SPG7	6687	broad.mit.edu	37	16	89619481	89619481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89619481G>A	ENST00000268704.2	+	14	1889	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	625					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGTTTGAGCGGATGTGCATG	0.627																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1873-1875)cGg>cAg		spastic paraplegia 7 (pure and complicated autosomal recessive)							51.0	43.0	46.0					16																	89619481		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89619481G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1874G>A	16.37:g.89619481G>A	ENSP00000268704:p.Arg625Gln						p.R625Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	14	1889	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	625					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1874G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513483	0.96402	.	.	ENSG00000197912	ENST00000268704;ENST00000312613	D	0.83075	-1.68	5.93	4.98	0.66077	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.044434	0.85682	D	0.000000	D	0.84238	0.5428	N	0.25992	0.78	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	D	0.85266	0.1053	10	0.66056	D	0.02	0.3492	13.6356	0.62221	0.0735:0.0:0.9265:0.0	.	625	Q9UQ90	SPG7_HUMAN	Q	625;213	ENSP00000268704:R625Q	ENSP00000268704:R625Q	R	+	2	0	SPG7	88146982	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	7.735000	0.84939	2.815000	0.96918	0.561000	0.74099	CGG		0.627	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		6	14	0	0	0	1	0	6	14				
LRP5	4041	broad.mit.edu	37	11	68133048	68133048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68133048G>A	ENST00000294304.7	+	5	999	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	298	EGF-like 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCACACTCGCTGTGAGGAG	0.592																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(892-894)cGc>cAc		low density lipoprotein receptor-related protein 5							105.0	108.0	107.0					11																	68133048		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68133048G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.893G>A	11.37:g.68133048G>A	ENSP00000294304:p.Arg298His						p.R298H	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			5	999	+			298			EGF-like 1.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.893G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702780	0.15172	.	.	ENSG00000162337	ENST00000294304	D	0.93247	-3.19	3.18	-6.33	0.01988	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.636227	0.11957	U	0.513103	T	0.81365	0.4807	N	0.05414	-0.055	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66188	-0.5986	10	0.52906	T	0.07	.	8.4939	0.33117	0.5552:0.3079:0.1369:0.0	.	298	O75197	LRP5_HUMAN	H	298	ENSP00000294304:R298H	ENSP00000294304:R298H	R	+	2	0	LRP5	67889624	0.001000	0.12720	0.001000	0.08648	0.338000	0.28826	0.011000	0.13264	-1.445000	0.01948	-0.391000	0.06502	CGC		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		69	96	0	0	0	1	0	69	96				
BMP5	653	broad.mit.edu	37	6	55625255	55625255	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55625255C>A	ENST00000370830.3	-	5	1802	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H	BMP5_ENST00000446683.2_Splice_Site_p.Q368H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	368					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATTCCTACCTGCCATCCCA	0.358																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.e5+1		bone morphogenetic protein 5							119.0	110.0	113.0					6																	55625255		2203	4300	6503	SO:0001630	splice_region_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55625255C>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1104+1G>T	6.37:g.55625255C>A						BMP5_ENST00000446683.2_Splice_Site_p.Q368_splice	p.Q368_splice	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1802	-	Lung NSC(77;0.0462)		368					B4E0Y4|Q9H547|Q9NTM5	Splice_Site	SNP	ENST00000370830.3	37	c.1104_splice	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951467	0.92660	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.88896	-2.44;-2.4	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.053172	0.85682	D	0.000000	D	0.90164	0.6926	L	0.37561	1.115	0.35318	D	0.784555	D;D	0.76494	0.999;0.997	D;D	0.74023	0.982;0.934	D	0.88719	0.3228	9	.	.	.	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	368;368	B4E0Y4;P22003	.;BMP5_HUMAN	H	368	ENSP00000359866:Q368H;ENSP00000391818:Q368H	.	Q	-	3	2	BMP5	55733214	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.693000	0.91896	0.655000	0.94253	CAG		0.358	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		Missense_Mutation	9	49	1	0	9.70103e-10	1	1.18443e-09	9	49				
PROM2	150696	broad.mit.edu	37	2	95953982	95953982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95953982C>T	ENST00000317620.9	+	21	2401	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	PROM2_ENST00000403131.2_Silent_p.C756C|PROM2_ENST00000542147.1_Silent_p.C707C|PROM2_ENST00000317668.4_Silent_p.C756C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	756					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGCCACCTGCCAGCCCCTCT	0.607																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(2266-2268)tgC>tgT		prominin 2							103.0	102.0	103.0					2																	95953982		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95953982C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2268C>T	2.37:g.95953982C>T						PROM2_ENST00000317668.4_Silent_p.C756C|PROM2_ENST00000403131.2_Silent_p.C756C|PROM2_ENST00000542147.1_Silent_p.C707C	p.C756C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			21	2401	+			756					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.2268C>T	CCDS2012.1																																																																																				0.607	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		14	41	0	0	0	1	0	14	41				
AHNAK	79026	broad.mit.edu	37	11	62300220	62300220	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62300220G>T	ENST00000378024.4	-	5	1943	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	557					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACTGCCAAGCCTAGGGCCT	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1669-1671)Ctt>Att		AHNAK nucleoprotein							86.0	94.0	92.0					11																	62300220		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300220G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1669C>A	11.37:g.62300220G>T	ENSP00000367263:p.Leu557Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L557I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	1943	-		Melanoma(852;0.155)	557					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1669C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	2.903	-0.227039	0.06022	.	.	ENSG00000124942	ENST00000378024	T	0.01068	5.38	5.29	-2.42	0.06542	.	1.130530	0.07054	N	0.832559	T	0.01222	0.0040	N	0.05441	-0.05	0.09310	N	1	D	0.58268	0.982	P	0.62298	0.9	T	0.45352	-0.9267	10	0.21014	T	0.42	-3.1712	0.2318	0.00181	0.3394:0.1409:0.2335:0.2862	.	557	Q09666	AHNK_HUMAN	I	557	ENSP00000367263:L557I	ENSP00000367263:L557I	L	-	1	0	AHNAK	62056796	0.000000	0.05858	0.125000	0.21846	0.753000	0.42808	-0.595000	0.05727	-0.021000	0.14009	-0.320000	0.08662	CTT		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		56	93	1	0	1.0442e-30	1	1.39955e-30	56	93				
MTPAP	55149	broad.mit.edu	37	10	30611540	30611540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30611540G>T	ENST00000263063.4	-	6	1042	c.999C>A	c.(997-999)gcC>gcA	p.A333A	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Silent_p.A463A	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	333					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AACTTGTCAAGGCAATCCTTC	0.373																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1387-1389)gcC>gcA		mitochondrial poly(A) polymerase							37.0	37.0	37.0					10																	30611540		2203	4300	6503	SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30611540G>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.999C>A	10.37:g.30611540G>T						MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.A333A	p.A463A			Q9NVV4	PAPD1_HUMAN			7	1388	-			333			PAP-associated.		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	c.1389C>A	CCDS7165.1																																																																																				0.373	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		7	23	1	0	0.00198382	1	0.00210581	7	23				
ARRDC5	645432	broad.mit.edu	37	19	4891208	4891208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4891208G>A	ENST00000381781.2	-	3	878	c.879C>T	c.(877-879)taC>taT	p.Y293Y	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	293										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGACCAGCTCGTAGCGAGTGT	0.607																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(877-879)taC>taT		arrestin domain containing 5							145.0	152.0	150.0					19																	4891208		2165	4254	6419	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4891208G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.879C>T	19.37:g.4891208G>A							p.Y293Y	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	878	-			293						Silent	SNP	ENST00000381781.2	37	c.879C>T	CCDS45929.1																																																																																				0.607	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		65	91	0	0	0	1	0	65	91				
STON2	85439	broad.mit.edu	37	14	81736941	81736941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81736941G>A	ENST00000267540.2	-	5	2886	c.2686C>T	c.(2686-2688)Ctt>Ttt	p.L896F	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	896					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGCTAAAAGGAATAAGAGG	0.468																																						ENST00000267540.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2686-2688)Ctt>Ttt		stonin 2							107.0	110.0	109.0					14																	81736941		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81736941G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2686C>T	14.37:g.81736941G>A	ENSP00000267540:p.Leu896Phe					STON2_ENST00000555447.1_Intron	p.L896F	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	5	2886	-			896					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2686C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	6.015	0.371107	0.11409	.	.	ENSG00000140022	ENST00000267540	T	0.13538	2.58	5.05	1.04	0.20106	.	3.712220	0.00832	N	0.001662	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26950	-1.0088	10	0.41790	T	0.15	1.7846	3.7916	0.08722	0.2766:0.0:0.554:0.1694	.	896	Q8WXE9	STON2_HUMAN	F	896	ENSP00000267540:L896F	ENSP00000267540:L896F	L	-	1	0	STON2	80806694	0.002000	0.14202	0.002000	0.10522	0.010000	0.07245	0.430000	0.21428	0.326000	0.23384	-0.140000	0.14226	CTT		0.468	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		30	49	0	0	0	1	0	30	49				
ZNF845	91664	broad.mit.edu	37	19	53856301	53856301	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856301A>G	ENST00000595091.1	+	5	2592	c.2373A>G	c.(2371-2373)gcA>gcG	p.A791A	ZNF845_ENST00000458035.1_Silent_p.A791A			Q96IR2	ZN845_HUMAN	zinc finger protein 845	791					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CACACCTGGCACAACATACTA	0.403																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2371-2373)gcA>gcG		zinc finger protein 845							48.0	44.0	45.0					19																	53856301		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856301A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2373A>G	19.37:g.53856301A>G						ZNF845_ENST00000595091.1_Silent_p.A791A	p.A791A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2490	+			791						Silent	SNP	ENST00000595091.1	37	c.2373A>G	CCDS46170.1																																																																																				0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		13	15	0	0	0	1	0	13	15				
CIT	11113	broad.mit.edu	37	12	120173114	120173114	+	Missense_Mutation	SNP	C	C	T	rs543172777		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120173114C>T	ENST00000261833.7	-	24	2933	c.2881G>A	c.(2881-2883)Gct>Act	p.A961T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.A1003T	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	961					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGAGTTCAGCGTTGTCCTCG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.001					ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(3007-3009)Gct>Act		citron (rho-interacting, serine/threonine kinase 21)							259.0	229.0	239.0					12																	120173114		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120173114C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2881G>A	12.37:g.120173114C>T	ENSP00000261833:p.Ala961Thr					CIT_ENST00000261833.7_Missense_Mutation_p.A961T|CIT_ENST00000537607.1_5'UTR	p.A1003T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	25	3062	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	961					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3007G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726266	0.69074	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65178	-0.11;-0.14	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	L	0.27053	0.805	0.54753	D	0.999986	P;D;D	0.76494	0.9;0.999;0.994	B;D;P	0.75020	0.106;0.985;0.777	T	0.65298	-0.6202	10	0.26408	T	0.33	.	18.797	0.91999	0.0:1.0:0.0:0.0	.	1003;961;494	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1003;961	ENSP00000376306:A1003T;ENSP00000261833:A961T	ENSP00000261833:A961T	A	-	1	0	CIT	118657497	1.000000	0.71417	0.986000	0.45419	0.802000	0.45316	4.776000	0.62354	2.505000	0.84491	0.655000	0.94253	GCT		0.463	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		29	60	0	0	0	1	0	29	60				
GCK	2645	broad.mit.edu	37	7	44189415	44189415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44189415G>A	ENST00000403799.3	-	6	1092	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GCK_ENST00000345378.2_Missense_Mutation_p.A209V|GCK_ENST00000437084.1_Missense_Mutation_p.A191V|GCK_ENST00000395796.3_Missense_Mutation_p.A207V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	208	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCATCGTGGCCACCGTGTC	0.567																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(622-624)gCc>gTc		glucokinase (hexokinase 4)							170.0	140.0	150.0					7																	44189415		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44189415G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.623C>T	7.37:g.44189415G>A	ENSP00000384247:p.Ala208Val					GCK_ENST00000437084.1_Missense_Mutation_p.A191V|GCK_ENST00000395796.3_Missense_Mutation_p.A207V|GCK_ENST00000345378.2_Missense_Mutation_p.A209V	p.A208V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			6	1092	-			208					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.623C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279971	0.95489	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82	5.96	5.96	0.96718	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.922;0.996	D	0.99847	1.1067	10	0.87932	D	0	-43.5919	20.0324	0.97544	0.0:0.0:1.0:0.0	.	208;209;207	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	V	208;207;209;191	ENSP00000384247:A208V;ENSP00000379142:A207V;ENSP00000223366:A209V;ENSP00000402840:A191V	ENSP00000223366:A209V	A	-	2	0	GCK	44155940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.896000	0.63222	2.832000	0.97577	0.655000	0.94253	GCC		0.567	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			20	74	0	0	0	1	0	20	74				
KMT2E	55904	broad.mit.edu	37	7	104722214	104722214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104722214C>T	ENST00000311117.3	+	13	1873	c.1328C>T	c.(1327-1329)aCt>aTt	p.T443I	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.T443I|KMT2E_ENST00000257745.4_Missense_Mutation_p.T443I|KMT2E_ENST00000476671.1_Missense_Mutation_p.T443I	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	443	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACTGAAATTACTATTGCCTTT	0.294																																						ENST00000334877.4																			0											c.(1327-1329)aCt>aTt		lysine (K)-specific methyltransferase 2E							98.0	110.0	106.0					7																	104722214		2201	4285	6486	SO:0001583	missense	55904							g.chr7:104722214C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1328C>T	7.37:g.104722214C>T	ENSP00000312379:p.Thr443Ile					KMT2E_ENST00000311117.3_Missense_Mutation_p.T443I|KMT2E_ENST00000257745.4_Missense_Mutation_p.T443I|KMT2E_ENST00000476671.1_Missense_Mutation_p.T443I|KMT2E_ENST00000334914.7_5'UTR	p.T443I							13	1862	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.1328C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779387	0.70107	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.24	5.24	0.73138	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.94417	0.8204	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95561	0.8629	10	0.87932	D	0	.	18.8236	0.92108	0.0:1.0:0.0:0.0	.	77;443;443	Q86W16;Q8IZD2;Q8IZD2-3	.;MLL5_HUMAN;.	I	443;443;443;443;443;301;443;377	ENSP00000312379:T443I;ENSP00000335599:T443I;ENSP00000257745:T443I;ENSP00000419883:T301I;ENSP00000417888:T443I	ENSP00000257745:T443I	T	+	2	0	MLL5	104509450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.501000	0.81600	2.453000	0.82957	0.555000	0.69702	ACT		0.294	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			13	155	0	0	0	1	0	13	155				
SLC5A8	160728	broad.mit.edu	37	12	101603623	101603623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101603623C>A	ENST00000536262.2	-	1	562	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGTGGCGTGTCCATGGCCGCA	0.706																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(4-6)Gac>Tac		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							15.0	13.0	14.0					12																	101603623		2121	4125	6246	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603623C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.4G>T	12.37:g.101603623C>A	ENSP00000445340:p.Asp2Tyr						p.D2Y	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			1	562	-			2						Missense_Mutation	SNP	ENST00000536262.2	37	c.4G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268119	0.23136	.	.	ENSG00000256870	ENST00000536262	D	0.86164	-2.08	5.32	3.21	0.36854	.	1.760340	0.02348	N	0.075566	T	0.81197	0.4772	L	0.42245	1.32	0.24748	N	0.992997	P	0.39624	0.681	B	0.28232	0.087	T	0.71560	-0.4556	10	0.72032	D	0.01	.	6.057	0.19816	0.0:0.495:0.3739:0.1311	.	2	Q8N695	SC5A8_HUMAN	Y	2	ENSP00000445340:D2Y	ENSP00000445340:D2Y	D	-	1	0	SLC5A8	100127754	0.006000	0.16342	0.840000	0.33206	0.076000	0.17211	-0.009000	0.12765	1.221000	0.43506	0.561000	0.74099	GAC		0.706	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	6	1	0	0.014758	1	0.0152625	4	6				
DAPK2	23604	broad.mit.edu	37	15	64231494	64231494	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64231494G>T	ENST00000457488.1	-	5	550	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Missense_Mutation_p.L174M|DAPK2_ENST00000261891.3_Missense_Mutation_p.L174M	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCGTGAGCCAGACCAAAGTCA	0.368																																						ENST00000261891.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11						c.(520-522)Ctg>Atg		death-associated protein kinase 2							100.0	94.0	96.0					15																	64231494		2203	4300	6503	SO:0001583	missense	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64231494G>T	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.520C>A	15.37:g.64231494G>T	ENSP00000408277:p.Leu174Met					DAPK2_ENST00000457488.1_Missense_Mutation_p.L174M|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Missense_Mutation_p.L174M	p.L174M			Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	4	525	-			174			Protein kinase.		E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	37	c.520C>A	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040715	0.55003	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.71698	-0.59;-0.59	4.85	3.92	0.45320	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114370	0.36815	N	0.002397	T	0.79305	0.4423	M	0.68317	2.08	0.58432	D	0.999999	P;P	0.48350	0.777;0.909	P;P	0.58721	0.572;0.844	T	0.80747	-0.1244	10	0.62326	D	0.03	.	12.8566	0.57888	0.0807:0.0:0.9192:0.0	.	174;174	E9JGM7;Q9UIK4	.;DAPK2_HUMAN	M	174	ENSP00000261891:L174M;ENSP00000408277:L174M	ENSP00000261891:L174M	L	-	1	2	DAPK2	62018547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.715000	0.37971	1.132000	0.42129	0.655000	0.94253	CTG		0.368	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		34	62	1	0	2.19358e-23	1	2.90382e-23	34	62				
PRAMEF11	440560	broad.mit.edu	37	1	12887615	12887615	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887615G>A	ENST00000535591.1	-	3	437	c.242C>T	c.(241-243)gCc>gTc	p.A81V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	81					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCACCCATGGGCCATAGCTTC	0.483																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(241-243)gCc>gTc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887615G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.242C>T	1.37:g.12887615G>A	ENSP00000439551:p.Ala81Val						p.A81V	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	437	-			81						Missense_Mutation	SNP	ENST00000535591.1	37	c.242C>T	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	2.929	-0.221434	0.06061	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04551	3.6;3.6	1.48	-2.96	0.05547	.	1.969230	0.02575	N	0.098244	T	0.04182	0.0116	L	0.41027	1.25	0.09310	N	1	B	0.29232	0.238	B	0.25291	0.059	T	0.33137	-0.9880	10	0.23302	T	0.38	.	2.4224	0.04451	0.3266:0.0:0.2576:0.4158	.	81	O60813	PRA11_HUMAN	V	81;122;81	ENSP00000439551:A81V;ENSP00000391839:A81V	ENSP00000328783:A122V	A	-	2	0	PRAMEF11	12810202	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.383000	0.01063	-1.591000	0.01621	0.400000	0.26472	GCC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		88	133	0	0	0	1	0	88	133				
SYT6	148281	broad.mit.edu	37	1	114680281	114680281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680281G>A	ENST00000610222.1	-	3	1053	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	SYT6_ENST00000393296.1_Missense_Mutation_p.P303S|SYT6_ENST00000609117.1_Missense_Mutation_p.P218S|SYT6_ENST00000607941.1_Missense_Mutation_p.P218S|SYT6_ENST00000369547.1_Missense_Mutation_p.P218S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	303	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCATAGGGCACAGGGAAG	0.567																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(907-909)Ccc>Tcc		synaptotagmin VI							114.0	106.0	109.0					1																	114680281		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680281G>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.907C>T	1.37:g.114680281G>A	ENSP00000476396:p.Pro303Ser					SYT6_ENST00000369547.1_Missense_Mutation_p.P218S	p.P303S			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	984	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	303			C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.907C>T		.	.	.	.	.	.	.	.	.	.	G	19.26	3.793520	0.70452	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.46	5.46	0.80206	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.03959	0.0111	N	0.20357	0.565	0.80722	D	1	B	0.30406	0.278	B	0.31495	0.131	T	0.43669	-0.9377	10	0.51188	T	0.08	.	19.3096	0.94182	0.0:0.0:1.0:0.0	.	303	Q5T7P8	SYT6_HUMAN	S	218;303;218;303	ENSP00000358560:P218S;ENSP00000376974:P303S;ENSP00000358559:P218S;ENSP00000358558:P303S	ENSP00000358558:P303S	P	-	1	0	SYT6	114481804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.757000	0.74924	2.571000	0.86741	0.655000	0.94253	CCC		0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		10	32	0	0	0	1	0	10	32				
TRIM46	80128	broad.mit.edu	37	1	155152225	155152225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155152225G>A	ENST00000334634.4	+	8	1403	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R468H|TRIM46_ENST00000545012.1_Missense_Mutation_p.R342H|TRIM46_ENST00000543729.1_Missense_Mutation_p.A488T|TRIM46_ENST00000368385.4_Missense_Mutation_p.R468H|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.R445H|TRIM46_ENST00000392451.2_Missense_Mutation_p.A481T	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	468	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGTTCCGGCGCACGGATGTG	0.652																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1441-1443)Gca>Aca		tripartite motif containing 46							39.0	41.0	40.0					1																	155152225		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155152225G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1403G>A	1.37:g.155152225G>A	ENSP00000334657:p.Arg468His					TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_Missense_Mutation_p.A488T|TRIM46_ENST00000368383.3_Missense_Mutation_p.R468H|TRIM46_ENST00000334634.4_Missense_Mutation_p.R468H|TRIM46_ENST00000368385.4_Missense_Mutation_p.R468H|TRIM46_ENST00000368382.1_Missense_Mutation_p.R445H|TRIM46_ENST00000545012.1_Missense_Mutation_p.R342H	p.A481T			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1524	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		169			Fibronectin type-III.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1441G>A	CCDS1097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.87|18.87	3.715835|3.715835	0.68844|0.68844	.|.	.|.	ENSG00000163462|ENSG00000163462	ENST00000543729;ENST00000392451|ENST00000430513;ENST00000368385;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T|T;T;T;T;T	0.49432|0.60040	0.82;0.78|0.22;0.22;0.22;0.22;0.22	3.68|3.68	3.68|3.68	0.42216|0.42216	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.60663|0.60663	0.2286|0.2286	M|M	0.61703|0.61703	1.905|1.905	0.37886|0.37886	D|D	0.930547|0.930547	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.999	.|D;P;D;D	.|0.78314	.|0.962;0.848;0.962;0.991	T|T	0.65364|0.65364	-0.6186|-0.6186	7|10	0.87932|0.66056	D|D	0|0.02	.|.	7.1941|7.1941	0.25843|0.25843	0.1211:0.0:0.8789:0.0|0.1211:0.0:0.8789:0.0	.|.	.|468;445;468;468	.|Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.|.;.;TRI46_HUMAN;.	T|H	488;481|426;468;342;468;445;468	ENSP00000442719:A488T;ENSP00000376245:A481T|ENSP00000357369:R468H;ENSP00000440254:R342H;ENSP00000357367:R468H;ENSP00000357366:R445H;ENSP00000334657:R468H	ENSP00000376245:A481T|ENSP00000334657:R468H	A|R	+|+	1|2	0|0	TRIM46|TRIM46	153418849|153418849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	4.052000|4.052000	0.57420|0.57420	2.081000|2.081000	0.62600|0.62600	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.652	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		8	17	0	0	0	1	0	8	17				
BAZ1A	11177	broad.mit.edu	37	14	35234240	35234240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35234240C>T	ENST00000382422.2	-	21	3863	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1147Q|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R1179Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1179					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GAGCTTTGGTCGAACACAGTA	0.358																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3535-3537)cGa>cAa		bromodomain adjacent to zinc finger domain, 1A							100.0	90.0	93.0					14																	35234240		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35234240C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3536G>A	14.37:g.35234240C>T	ENSP00000371859:p.Arg1179Gln					BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1147Q|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R1179Q	p.R1179Q	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	22	4103	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1179					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.3536G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591241	0.96590	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.57107	0.42;0.42;0.42	5.67	5.67	0.87782	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.68353	0.71;0.957	T	0.69734	-0.5065	10	0.72032	D	0.01	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	1147;1179	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	Q	1147;1179;1179;831	ENSP00000351555:R1147Q;ENSP00000371859:R1179Q;ENSP00000353458:R1179Q	ENSP00000351555:R1147Q	R	-	2	0	BAZ1A	34303991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.513000	0.81739	2.680000	0.91292	0.655000	0.94253	CGA		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			23	39	0	0	0	1	0	23	39				
SLC7A9	11136	broad.mit.edu	37	19	33355633	33355633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33355633G>A	ENST00000023064.4	-	3	328	c.137C>T	c.(136-138)tCt>tTt	p.S46F	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S46F|SLC7A9_ENST00000587772.1_Missense_Mutation_p.S46F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	46					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGATCCCAGAGCCAATGAT	0.632																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(136-138)tCt>tTt		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						173.0	158.0	163.0					19																	33355633		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355633G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.137C>T	19.37:g.33355633G>A	ENSP00000023064:p.Ser46Phe					SLC7A9_ENST00000587772.1_Missense_Mutation_p.S46F|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S46F	p.S46F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	328	-	Esophageal squamous(110;0.137)		46					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.137C>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523610	0.85600	.	.	ENSG00000021488	ENST00000023064	D	0.90844	-2.74	5.13	5.13	0.70059	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98645	1.0677	10	0.87932	D	0	.	18.9574	0.92664	0.0:0.0:1.0:0.0	.	46	P82251	BAT1_HUMAN	F	46	ENSP00000023064:S46F	ENSP00000023064:S46F	S	-	2	0	SLC7A9	38047473	1.000000	0.71417	0.985000	0.45067	0.686000	0.39977	9.837000	0.99465	2.565000	0.86533	0.462000	0.41574	TCT		0.632	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			30	94	0	0	0	1	0	30	94				
SHE	126669	broad.mit.edu	37	1	154459139	154459139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154459139G>A	ENST00000304760.2	-	4	1131	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	349										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGAAGGTCGCTCAGCTCCT	0.547																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.(1045-1047)Cga>Tga		Src homology 2 domain containing E							77.0	69.0	72.0					1																	154459139		2203	4300	6503	SO:0001587	stop_gained	126669							g.chr1:154459139G>A	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1045C>T	1.37:g.154459139G>A	ENSP00000307369:p.Arg349*						p.R349*	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1131	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		349					Q8TEQ5	Nonsense_Mutation	SNP	ENST00000304760.2	37	c.1045C>T	CCDS30877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.473341|6.473341	0.97594|0.97594	.|.	.|.	ENSG00000169291|ENSG00000169291	ENST00000555188|ENST00000304760	.|.	.|.	.|.	5.57|5.57	4.55|4.55	0.56014|0.56014	.|.	.|0.224020	.|0.39834	.|N	.|0.001244	T|.	0.16428|.	0.0395|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.04178|.	-1.0971|.	3|.	.|0.02654	.|T	.|1	-30.4117|-30.4117	13.0299|13.0299	0.58837|0.58837	0.0:0.0:0.7493:0.2507|0.0:0.0:0.7493:0.2507	.|.	.|.	.|.	.|.	V|X	46|349	.|.	.|ENSP00000307369:R349X	A|R	-|-	2|1	0|2	SHE|SHE	152725763|152725763	0.987000|0.987000	0.35691|0.35691	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	0.576000|0.576000	0.23744|0.23744	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	GCG|CGA		0.547	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846		33	41	0	0	0	1	0	33	41				
RAD51AP2	729475	broad.mit.edu	37	2	17698269	17698269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17698269C>T	ENST00000399080.2	-	1	1437	c.1414G>A	c.(1414-1416)Gct>Act	p.A472T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	472										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTATTAAAGCTGTCTGACTA	0.348																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1414-1416)Gct>Act		RAD51 associated protein 2							78.0	71.0	73.0					2																	17698269		1825	4078	5903	SO:0001583	missense	729475							g.chr2:17698269C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1414G>A	2.37:g.17698269C>T	ENSP00000382030:p.Ala472Thr						p.A472T	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1437	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		472						Missense_Mutation	SNP	ENST00000399080.2	37	c.1414G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.586	-0.834956	0.02713	.	.	ENSG00000214842	ENST00000399080	T	0.23348	1.91	4.43	1.01	0.19927	.	.	.	.	.	T	0.12860	0.0312	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.18871	0.023	T	0.36962	-0.9726	9	0.09590	T	0.72	0.1273	3.5514	0.07848	0.2521:0.3489:0.0:0.399	.	472	Q09MP3	R51A2_HUMAN	T	472	ENSP00000382030:A472T	ENSP00000382030:A472T	A	-	1	0	RAD51AP2	17561750	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.423000	0.02450	0.027000	0.15297	0.563000	0.77884	GCT		0.348	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		3	29	0	0	0	1	0	3	29				
MTUS2	23281	broad.mit.edu	37	13	29933491	29933491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29933491C>T	ENST00000431530.3	+	6	3086	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1000	Localization to the growing distal tip of microtubules.					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						GCTGGTGCTGCGGCTGAAGGA	0.657																																						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.(3028-3030)Cgg>Tgg		microtubule associated tumor suppressor candidate 2							14.0	17.0	16.0					13																	29933491		2036	4187	6223	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29933491C>T	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.3028C>T	13.37:g.29933491C>T	ENSP00000392057:p.Arg1010Trp						p.R1010W	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			6	3086	+			1000			Localization to the growing distal tip of microtubules.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.3028C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.798176	0.70567	.	.	ENSG00000132938	ENST00000431530	T	0.13538	2.58	4.91	4.05	0.47172	.	0.758713	0.11661	N	0.541837	T	0.25901	0.0631	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.00677	-1.1614	9	.	.	.	.	10.1203	0.42616	0.3648:0.6352:0.0:0.0	.	1000	Q5JR59	MTUS2_HUMAN	W	1010	ENSP00000392057:R1010W	.	R	+	1	2	MTUS2	28831491	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.591000	0.23969	1.260000	0.44134	0.591000	0.81541	CGG		0.657	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	2	0	0	0	1	0	5	2				
FOXN2	3344	broad.mit.edu	37	2	48602548	48602548	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602548C>A	ENST00000340553.3	+	7	1523	c.1262C>A	c.(1261-1263)gCa>gAa	p.A421E		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	421					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ATAAGTACTGCAAAGACACAA	0.383																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1261-1263)gCa>gAa		forkhead box N2							28.0	30.0	29.0					2																	48602548		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602548C>A		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.1262C>A	2.37:g.48602548C>A	ENSP00000343633:p.Ala421Glu						p.A421E	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1523	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	421					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.1262C>A	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210255	0.58343	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.95980	-3.87	5.49	4.62	0.57501	.	0.226310	0.45867	D	0.000338	D	0.91543	0.7329	N	0.24115	0.695	0.43417	D	0.995566	P	0.42123	0.771	B	0.40410	0.328	D	0.92451	0.5970	10	0.87932	D	0	.	14.718	0.69284	0.0:0.9307:0.0:0.0693	.	421	P32314	FOXN2_HUMAN	E	330;421	ENSP00000343633:A421E	ENSP00000305685:A330E	A	+	2	0	FOXN2	48456052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.793000	0.55484	1.554000	0.49487	0.650000	0.86243	GCA		0.383	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		9	14	1	0	0.000274275	1	0.000298791	9	14				
KDM3B	51780	broad.mit.edu	37	5	137717216	137717216	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137717216C>T	ENST00000314358.5	+	6	917	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	239					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTGGTGAGATCAAGTCGGTAG	0.383																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(715-717)atC>atT		lysine (K)-specific demethylase 3B							139.0	120.0	126.0					5																	137717216		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137717216C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.717C>T	5.37:g.137717216C>T							p.I239I	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			6	917	+			239					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.717C>T	CCDS34242.1																																																																																				0.383	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		20	52	0	0	0	1	0	20	52				
PPP2R4	5524	broad.mit.edu	37	9	131898769	131898769	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131898769A>G	ENST00000337738.1	+	8	952	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	PPP2R4_ENST00000355007.3_Missense_Mutation_p.K152E|PPP2R4_ENST00000357197.4_Missense_Mutation_p.K165E|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.K194E|PPP2R4_ENST00000452489.2_Missense_Mutation_p.K229E|PPP2R4_ENST00000393370.2_Missense_Mutation_p.K194E|PPP2R4_ENST00000524946.2_5'Flank|PPP2R4_ENST00000348141.5_Missense_Mutation_p.K200E|PPP2R4_ENST00000423100.1_5'Flank	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	229					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGTTATGCGGAAACTCCAGAA	0.542																																					Colon(158;2158 2504 4450 20433)	ENST00000337738.1																			0				breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(685-687)Aaa>Gaa		protein phosphatase 2A activator, regulatory subunit 4							202.0	214.0	210.0					9																	131898769		2203	4300	6503	SO:0001583	missense	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131898769A>G	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.685A>G	9.37:g.131898769A>G	ENSP00000337448:p.Lys229Glu					PPP2R4_ENST00000348141.5_Missense_Mutation_p.K200E|PPP2R4_ENST00000358994.4_Missense_Mutation_p.K194E|PPP2R4_ENST00000355007.3_Missense_Mutation_p.K152E|PPP2R4_ENST00000452489.2_Missense_Mutation_p.K229E|PPP2R4_ENST00000393370.2_Missense_Mutation_p.K194E|PPP2R4_ENST00000357197.4_Missense_Mutation_p.K165E|PPP2R4_ENST00000347048.4_Intron	p.K229E	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	8	952	+		Medulloblastoma(224;0.235)	229					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37	c.685A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.1|26.1	4.701707|4.701707	0.88924|0.88924	.|.	.|.	ENSG00000119383|ENSG00000119383	ENST00000455240|ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000357197;ENST00000445241;ENST00000355007;ENST00000417728	.|T;T;T;T;T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.092353	.|0.64402	.|D	.|0.000001	T|T	0.50377|0.50377	0.1612|0.1612	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|P;P;P;P;B;P	.|0.51240	.|0.943;0.798;0.909;0.878;0.447;0.905	.|P;P;P;B;B;P	.|0.58331	.|0.771;0.511;0.837;0.441;0.439;0.492	T|T	0.53136|0.53136	-0.8481|-0.8481	5|10	.|0.66056	.|D	.|0.02	-20.0877|-20.0877	13.5753|13.5753	0.61870|0.61870	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|152;165;229;152;229;194	.|B4DLX5;Q15257-3;B4DZF8;Q15257-4;Q15257;Q15257-2	.|.;.;.;.;PTPA_HUMAN;.	G|E	7|194;229;194;229;200;229;165;229;152;159	.|ENSP00000351885:K194E;ENSP00000395499:K229E;ENSP00000377036:K194E;ENSP00000337448:K229E;ENSP00000335200:K200E;ENSP00000394338:K229E;ENSP00000349726:K165E;ENSP00000406997:K229E;ENSP00000347109:K152E;ENSP00000403542:K159E	.|ENSP00000337448:K229E	E|K	+|+	2|1	0|0	PPP2R4|PPP2R4	130938590|130938590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	8.918000|8.918000	0.92759|0.92759	2.133000|2.133000	0.65898|0.65898	0.455000|0.455000	0.32223|0.32223	GAA|AAA		0.542	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		96	168	0	0	0	1	0	96	168				
NBN	4683	broad.mit.edu	37	8	90993001	90993001	+	Silent	SNP	G	G	A	rs137857529	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90993001G>A	ENST00000265433.3	-	4	595	c.441C>T	c.(439-441)tgC>tgT	p.C147C	NBN_ENST00000409330.1_Silent_p.C65C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	147	BRCT.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAGGTGAGTGCATTCTTCTG	0.338								Homologous recombination					G|||	2	0.000399361	0.0015	0.0	5008	,	,		18576	0.0		0.0	False		,,,				2504	0.0					ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(439-441)tgC>tgT	Homologous recombination	nibrin		G		7,4399	12.9+/-30.5	0,7,2196	132.0	122.0	126.0		441	-2.5	1.0	8	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	NBN	NM_002485.4		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		147/755	90993001	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90993001G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.441C>T	8.37:g.90993001G>A						NBN_ENST00000409330.1_Silent_p.C65C	p.C147C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	595	-			147			BRCT.		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.441C>T	CCDS6249.1																																																																																				0.338	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		7	74	0	0	0	1	0	7	74				
MPI	4351	broad.mit.edu	37	15	75188494	75188494	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75188494G>A	ENST00000352410.4	+	6	739	c.672G>A	c.(670-672)gcG>gcA	p.A224A	MPI_ENST00000323744.6_Splice_Site_p.T163T|MPI_ENST00000564003.1_Splice_Site_p.T113T|MPI_ENST00000562606.1_Splice_Site_p.A204A|MPI_ENST00000563786.1_Splice_Site_p.A204A|MPI_ENST00000566377.1_Splice_Site_p.A224A|MPI_ENST00000535694.1_Splice_Site_p.A174A|MPI_ENST00000563422.1_Splice_Site_p.A224A			P34949	MPI_HUMAN	mannose phosphate isomerase	224					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.A224A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCCTCAGCGGCTGCCGGAA	0.557																																						ENST00000352410.4																			1	Substitution - coding silent(1)	p.A224A(1)	ovary(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.e6-1		mannose phosphate isomerase							102.0	93.0	96.0					15																	75188494		2197	4295	6492	SO:0001630	splice_region_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75188494G>A		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.671-1G>A	15.37:g.75188494G>A						MPI_ENST00000566377.1_Splice_Site_p.A224_splice|MPI_ENST00000562606.1_Splice_Site_p.A204_splice|MPI_ENST00000564003.1_Splice_Site_p.T113_splice|MPI_ENST00000563422.1_Splice_Site_p.A224_splice|MPI_ENST00000323744.6_Splice_Site_p.T163_splice|MPI_ENST00000535694.1_Splice_Site_p.A174_splice|MPI_ENST00000563786.1_Splice_Site_p.A204_splice	p.A224_splice			P34949	MPI_HUMAN			6	739	+			224					A8K8K9|Q96AB0	Splice_Site	SNP	ENST00000352410.4	37	c.670_splice	CCDS10272.1																																																																																				0.557	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4		Silent	28	32	0	0	0	1	0	28	32				
MYCBP2	23077	broad.mit.edu	37	13	77671996	77671996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77671996T>C	ENST00000544440.2	-	56	9196	c.9179A>G	c.(9178-9180)aAt>aGt	p.N3060S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.N3060S|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.N3098S					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTAAACATATTCAGTGCAGA	0.353																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(9292-9294)aAt>aGt		MYC binding protein 2, E3 ubiquitin protein ligase							80.0	83.0	82.0					13																	77671996		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77671996T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9179A>G	13.37:g.77671996T>C	ENSP00000444596:p.Asn3060Ser					MYCBP2_ENST00000357337.6_Missense_Mutation_p.N3060S|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N3060S	p.N3098S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9559	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3060						Missense_Mutation	SNP	ENST00000544440.2	37	c.9293A>G		.	.	.	.	.	.	.	.	.	.	T	14.16	2.453736	0.43531	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28069	1.63;1.63;1.63	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.36672	1.1	0.58432	D	0.999994	P;P;P	0.52842	0.789;0.949;0.956	P;P;D	0.65010	0.465;0.641;0.931	T	0.33599	-0.9862	10	0.51188	T	0.08	.	15.7365	0.77849	0.0:0.0:0.0:1.0	.	446;3060;3060	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	S	3060;3098;3060	ENSP00000349892:N3060S;ENSP00000384288:N3098S;ENSP00000444596:N3060S	ENSP00000349892:N3060S	N	-	2	0	MYCBP2	76569997	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.698000	0.84413	2.120000	0.65058	0.482000	0.46254	AAT		0.353	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		29	67	0	0	0	1	0	29	67				
GPR89B	51463	broad.mit.edu	37	1	147408777	147408777	+	Missense_Mutation	SNP	C	C	T	rs587718844		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147408777C>T	ENST00000314163.7	+	2	223	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	27					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					TTTCTTCATGCGCCAATTGTT	0.299													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17097	0.0		0.0	False		,,,				2504	0.0					ENST00000314163.7																			0				large_intestine(1)	1						c.(79-81)Cgc>Tgc		G protein-coupled receptor 89B							100.0	101.0	101.0					1																	147408777		2203	4292	6495	SO:0001583	missense	51463				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:147408777C>T	U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.79C>T	1.37:g.147408777C>T	ENSP00000358233:p.Arg27Cys						p.R27C	NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN			2	223	+	all_hematologic(923;0.0276)		27					A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000314163.7	37	c.79C>T	CCDS930.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.047725	0.75846	.	.	ENSG00000188092	ENST00000314163	.	.	.	4.07	3.1	0.35709	.	0.000000	0.64402	U	0.000001	T	0.61961	0.2389	.	.	.	0.80722	D	1	D	0.76494	0.999	P	0.59357	0.856	T	0.67122	-0.5750	8	0.66056	D	0.02	-3.5	12.0556	0.53533	0.1728:0.8272:0.0:0.0	.	27	B4DT03	.	C	27	.	ENSP00000358233:R27C	R	+	1	0	GPR89B	145875401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.844000	0.39269	2.121000	0.65114	0.479000	0.44913	CGC		0.299	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2	NM_016334		48	55	0	0	0	1	0	48	55				
LSM3	27258	broad.mit.edu	37	3	14239546	14239546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14239546G>A	ENST00000306024.3	+	4	742	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	80					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						TCAACGAAACGGAATATTCCA	0.393																																						ENST00000306024.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(1)	4						c.(238-240)cGg>cAg		LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)							125.0	120.0	122.0					3																	14239546		2203	4300	6503	SO:0001583	missense	27258				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding	g.chr3:14239546G>A	AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.239G>A	3.37:g.14239546G>A	ENSP00000302160:p.Arg80Gln						p.R80Q	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN			4	742	+			80					Q6IAH0|Q9Y4Z1	Missense_Mutation	SNP	ENST00000306024.3	37	c.239G>A	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372092	0.82573	.	.	ENSG00000170860	ENST00000306024	T	0.50813	0.73	5.8	5.8	0.92144	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.93854	3.465	0.80722	D	1	P	0.42203	0.773	B	0.42188	0.379	T	0.74411	-0.3674	10	0.66056	D	0.02	-0.536	16.9661	0.86286	0.0:0.0:1.0:0.0	.	80	P62310	LSM3_HUMAN	Q	80	ENSP00000302160:R80Q	ENSP00000302160:R80Q	R	+	2	0	LSM3	14214550	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.441000	0.73439	2.745000	0.94114	0.491000	0.48974	CGG		0.393	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463		18	34	0	0	0	1	0	18	34				
LINC00842	643650	broad.mit.edu	37	10	47133673	47133673	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47133673C>A	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		ctgaaaccacctccacgacca	0.512																																						ENST00000422732.2																			0																																																			0							g.chr10:47133673C>A			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47133673C>A								NR_033957.1						0	435	-									RNA	SNP	ENST00000422732.2	37																																																																																						0.512	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		12	72	1	0	3.27435e-08	1	3.90559e-08	12	72				
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T	rs528031482	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.002					ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(133-135)Gta>Ata		erythrocyte membrane protein band 4.1 like 4A							109.0	102.0	104.0					5																	111643154		1875	4109	5984	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111643154C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.133G>A	5.37:g.111643154C>T	ENSP00000261486:p.Val45Ile						p.V45I	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	2	409	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	45			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.133G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480657	0.44044	.	.	ENSG00000129595	ENST00000261486	D	0.82167	-1.58	5.82	4.77	0.60923	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.215065	0.37809	N	0.001931	T	0.80613	0.4656	M	0.66378	2.025	0.35913	D	0.831215	B	0.30605	0.287	B	0.23574	0.047	D	0.83844	0.0259	10	0.46703	T	0.11	.	15.5137	0.75806	0.0:0.9219:0.0:0.0781	.	45	Q9HCS5	E41LA_HUMAN	I	45	ENSP00000261486:V45I	ENSP00000261486:V45I	V	-	1	0	EPB41L4A	111671053	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	4.392000	0.59659	2.754000	0.94517	0.643000	0.83706	GTA		0.383	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			17	23	0	0	0	1	0	17	23				
ILDR1	286676	broad.mit.edu	37	3	121720628	121720628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121720628C>A	ENST00000344209.5	-	4	589	c.463G>T	c.(463-465)Gga>Tga	p.G155*	ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000273691.3_Nonsense_Mutation_p.G155*|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.G167*|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	155	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCGGGGTCTCCTGATGTGTCC	0.488																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(463-465)Gga>Tga		immunoglobulin-like domain containing receptor 1							203.0	187.0	192.0					3																	121720628		2203	4300	6503	SO:0001587	stop_gained	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121720628C>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.463G>T	3.37:g.121720628C>A	ENSP00000345667:p.Gly155*					ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.G155*|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.G167*	p.G155*	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	568	-			155			Ig-like V-type.		Q6ZP61|Q7Z578	Nonsense_Mutation	SNP	ENST00000344209.5	37	c.463G>T	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	37	6.359902	0.97502	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000462014	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.3203	16.4898	0.84197	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;167	.	ENSP00000273691:G155X	G	-	1	0	ILDR1	123203318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.837000	0.97791	0.655000	0.94253	GGA		0.488	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		47	79	1	0	3.86361e-14	1	4.92368e-14	47	79				
ZBTB45	84878	broad.mit.edu	37	19	59028593	59028593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028593G>A	ENST00000594051.1	-	2	928	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	ZBTB45_ENST00000600990.1_Missense_Mutation_p.R150C|ZBTB45_ENST00000354590.3_Missense_Mutation_p.R150C			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	150	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGGCGGTGACGCAGCTGCGCA	0.741											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(448-450)Cgt>Tgt		zinc finger and BTB domain containing 45							8.0	11.0	10.0					19																	59028593		1970	3891	5861	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028593G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.448C>T	19.37:g.59028593G>A	ENSP00000469089:p.Arg150Cys		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Missense_Mutation_p.R150C|ZBTB45_ENST00000600990.1_Missense_Mutation_p.R150C	p.R150C			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	928	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	150			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.448C>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181498	0.57800	.	.	ENSG00000119574	ENST00000354590	T	0.10192	2.9	2.78	2.78	0.32641	.	1.456810	0.04972	N	0.464109	T	0.16811	0.0404	N	0.24115	0.695	0.44754	D	0.997755	D	0.76494	0.999	P	0.56563	0.801	T	0.19811	-1.0294	10	0.72032	D	0.01	.	9.2418	0.37500	0.0:0.0:1.0:0.0	.	150	Q96K62	ZBT45_HUMAN	C	150	ENSP00000346603:R150C	ENSP00000346603:R150C	R	-	1	0	ZBTB45	63720405	0.997000	0.39634	1.000000	0.80357	0.432000	0.31715	2.755000	0.47540	1.881000	0.54492	0.313000	0.20887	CGT		0.741	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		8	12	0	0	0	1	0	8	12				
ASPM	259266	broad.mit.edu	37	1	197073511	197073511	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197073511T>C	ENST00000367409.4	-	18	5126	c.4870A>G	c.(4870-4872)Aaa>Gaa	p.K1624E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1624					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTAGAACTTTCATGGCAAAA	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4870-4872)Aaa>Gaa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93.0	94.0	93.0					1																	197073511		2202	4298	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073511T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4870A>G	1.37:g.197073511T>C	ENSP00000356379:p.Lys1624Glu					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.K1624E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5126	-			1624					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4870A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	9.408	1.079646	0.20309	.	.	ENSG00000066279	ENST00000367409	T	0.72051	-0.62	5.25	4.12	0.48240	.	0.552415	0.19185	N	0.120588	T	0.59169	0.2174	L	0.42529	1.33	0.80722	D	1	B	0.20052	0.041	B	0.20184	0.028	T	0.53222	-0.8469	10	0.32370	T	0.25	.	6.9902	0.24751	0.0:0.077:0.149:0.774	.	1624	Q8IZT6	ASPM_HUMAN	E	1624	ENSP00000356379:K1624E	ENSP00000356379:K1624E	K	-	1	0	ASPM	195340134	0.007000	0.16637	0.357000	0.25798	0.503000	0.33858	1.147000	0.31602	1.092000	0.41356	0.477000	0.44152	AAA		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		14	107	0	0	0	1	0	14	107				
KCNH8	131096	broad.mit.edu	37	3	19492884	19492884	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19492884C>A	ENST00000328405.2	+	10	2079	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	605					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCATGGTGCTGGCTATTCT	0.448																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1813-1815)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 8							73.0	74.0	74.0					3																	19492884		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19492884C>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1813C>A	3.37:g.19492884C>A	ENSP00000328813:p.Leu605Met						p.L605M	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			10	2079	+			605					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1813C>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761165	0.69763	.	.	ENSG00000183960	ENST00000328405	D	0.97505	-4.41	5.49	3.68	0.42216	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.25948	U	0.027270	D	0.97645	0.9228	M	0.66439	2.03	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.96583	0.9432	9	.	.	.	.	10.9654	0.47410	0.0:0.8478:0.0:0.1522	.	605	Q96L42	KCNH8_HUMAN	M	605	ENSP00000328813:L605M	.	L	+	1	2	KCNH8	19467888	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.003000	0.40844	0.671000	0.31185	0.467000	0.42956	CTG		0.448	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		41	45	1	0	6.45866e-13	1	8.15743e-13	41	45				
ZSWIM2	151112	broad.mit.edu	37	2	187693297	187693297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693297C>T	ENST00000295131.2	-	9	1355	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	439					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGTAAAATTCCAAGTCTATT	0.333																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1315-1317)gGa>gAa		zinc finger, SWIM-type containing 2							63.0	68.0	66.0					2																	187693297		2202	4297	6499	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187693297C>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1316G>A	2.37:g.187693297C>T	ENSP00000295131:p.Gly439Glu						p.G439E	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1355	-			439					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1316G>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555850	0.45487	.	.	ENSG00000163012	ENST00000295131	T	0.21361	2.01	5.3	2.01	0.26516	.	0.406174	0.21575	N	0.072342	T	0.25269	0.0614	L	0.46157	1.445	0.09310	N	1	D	0.56287	0.975	P	0.51945	0.685	T	0.04373	-1.0956	10	0.59425	D	0.04	-6.7736	7.8509	0.29453	0.0:0.6744:0.0:0.3256	.	439	Q8NEG5	ZSWM2_HUMAN	E	439	ENSP00000295131:G439E	ENSP00000295131:G439E	G	-	2	0	ZSWIM2	187401542	0.003000	0.15002	0.093000	0.20910	0.757000	0.42996	0.400000	0.20932	0.738000	0.32606	0.591000	0.81541	GGA		0.333	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		28	44	0	0	0	1	0	28	44				
PRSS58	136541	broad.mit.edu	37	7	141952370	141952370	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141952370G>A	ENST00000552471.1	-	4	817	c.498C>T	c.(496-498)cgC>cgT	p.R166R	PRSS58_ENST00000547058.2_Silent_p.R166R			Q8IYP2	PRS58_HUMAN	protease, serine, 58	166	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATAGGCATCGCGACACTGAG	0.428																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(496-498)cgC>cgT		protease, serine, 58							163.0	149.0	154.0					7																	141952370		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952370G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.498C>T	7.37:g.141952370G>A						PRSS58_ENST00000547058.2_Silent_p.R166R	p.R166R			Q8IYP2	PRS58_HUMAN			4	817	-			166			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.498C>T	CCDS5871.1																																																																																				0.428	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		22	158	0	0	0	1	0	22	158				
DACH1	1602	broad.mit.edu	37	13	72204729	72204729	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:72204729T>C	ENST00000359684.2	-	3	1090	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	DACH1_ENST00000313174.7_Missense_Mutation_p.H364R|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.H364R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	364	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTCTGCTCCATGTTGGTTATT	0.398																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1090-1092)cAt>cGt		dachshund homolog 1 (Drosophila)							257.0	231.0	239.0					13																	72204729		1855	4101	5956	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204729T>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1091A>G	13.37:g.72204729T>C	ENSP00000352712:p.His364Arg					DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.H364R|DACH1_ENST00000359684.2_Missense_Mutation_p.H364R	p.H364R	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1513	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	362			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1091A>G		.	.	.	.	.	.	.	.	.	.	T	20.3	3.964523	0.74131	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.81163	1.3;1.52;-1.46	6.16	6.16	0.99307	.	0.046316	0.85682	D	0.000000	D	0.86351	0.5912	L	0.44542	1.39	0.80722	D	1	D;B	0.60160	0.987;0.372	D;B	0.71656	0.974;0.15	D	0.87270	0.2285	10	0.72032	D	0.01	-10.7018	16.8061	0.85666	0.0:0.0:0.0:1.0	.	362;362	Q9UI36-3;Q9UI36-2	.;.	R	364	ENSP00000304994:H364R;ENSP00000318506:H364R;ENSP00000352712:H364R	ENSP00000304994:H364R	H	-	2	0	DACH1	71102730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.603000	0.82811	2.367000	0.80283	0.528000	0.53228	CAT		0.398	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		81	159	0	0	0	1	0	81	159				
NOL10	79954	broad.mit.edu	37	2	10712240	10712240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10712240C>A	ENST00000381685.5	-	21	2129	c.2024G>T	c.(2023-2025)gGa>gTa	p.G675V	NOL10_ENST00000542668.1_Missense_Mutation_p.G625V|NOL10_ENST00000345985.3_Missense_Mutation_p.G625V|NOL10_ENST00000538384.1_Missense_Mutation_p.G649V	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	675						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTCAGGTGTCCGGCCGAACG	0.473																																						ENST00000345985.3																			0											c.(1873-1875)gGa>gTa		nucleolar protein 10							278.0	248.0	258.0					2																	10712240		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10712240C>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2024G>T	2.37:g.10712240C>A	ENSP00000371101:p.Gly675Val					NOL10_ENST00000538384.1_Missense_Mutation_p.G649V|NOL10_ENST00000381685.5_Missense_Mutation_p.G675V|NOL10_ENST00000542668.1_Missense_Mutation_p.G625V	p.G625V	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	20	1984	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		675					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1874G>T	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315665	0.40996	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.45276	0.9;1.49;1.49;1.49	5.75	4.86	0.63082	.	0.360971	0.34268	N	0.004116	T	0.44414	0.1292	L	0.55481	1.735	0.26611	N	0.972836	P;P;P	0.41131	0.498;0.498;0.739	B;B;P	0.44561	0.08;0.08;0.453	T	0.39840	-0.9594	10	0.37606	T	0.19	-3.0903	14.1885	0.65623	0.0:0.9287:0.0:0.0713	.	649;675;625	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	V	625;675;625;649	ENSP00000263837:G625V;ENSP00000371101:G675V;ENSP00000437625:G625V;ENSP00000439663:G649V	ENSP00000263837:G625V	G	-	2	0	NOL10	10629691	0.019000	0.18553	0.362000	0.25862	0.761000	0.43186	2.876000	0.48498	2.713000	0.92767	0.655000	0.94253	GGA		0.473	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		89	125	1	0	4.98208e-43	1	6.72557e-43	89	125				
WBP11P1	441818	broad.mit.edu	37	18	30092841	30092841	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30092841G>T	ENST00000567636.1	+	0	1216					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GGGAAGTAGAGGAATTTTCAG	0.418																																						ENST00000567636.1																			0																																																			0							g.chr18:30092841G>T	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092841G>T								NR_003558.1						0	1216	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.418	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			4	60	1	0	1	1	1	4	60				
VPS36	51028	broad.mit.edu	37	13	53008987	53008987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53008987G>A	ENST00000378060.4	-	5	409	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	128	GLUE C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CATCTTCTTTGTGTCATTTCC	0.333																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(382-384)Caa>Taa		vacuolar protein sorting 36 homolog (S. cerevisiae)							172.0	182.0	179.0					13																	53008987		2203	4300	6503	SO:0001587	stop_gained	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53008987G>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.382C>T	13.37:g.53008987G>A	ENSP00000367299:p.Gln128*					VPS36_ENST00000480923.1_5'UTR	p.Q128*	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	5	409	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	128			GLUE C-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	37	c.382C>T	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	18.29	3.590522	0.66219	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.76	5.76	0.90799	.	0.105180	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-21.6719	18.9612	0.92678	0.0:0.0:1.0:0.0	.	.	.	.	X	128	.	ENSP00000367299:Q128X	Q	-	1	0	VPS36	51906988	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	6.266000	0.72540	2.715000	0.92844	0.563000	0.77884	CAA		0.333	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			84	78	0	0	0	1	0	84	78				
LDB1	8861	broad.mit.edu	37	10	103869749	103869749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103869749G>A	ENST00000425280.1	-	7	919	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	LDB1_ENST00000361198.5_Missense_Mutation_p.R157W|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	193					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.R157W(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCTTTATCCGCATCATGTCG	0.587																																						ENST00000361198.5																			1	Substitution - Missense(1)	p.R157W(1)	central_nervous_system(1)	breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(469-471)Cgg>Tgg		LIM domain binding 1							141.0	113.0	123.0					10																	103869749		2203	4300	6503	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103869749G>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.577C>T	10.37:g.103869749G>A	ENSP00000392466:p.Arg193Trp					LDB1_ENST00000425280.1_Missense_Mutation_p.R193W	p.R157W	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	7	1092	-		Colorectal(252;0.122)	193					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.469C>T	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295584	0.81025	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.8	-0.367	0.12541	.	0.045412	0.85682	D	0.000000	T	0.78207	0.4247	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.79579	-0.1745	9	0.87932	D	0	-9.9794	11.4669	0.50243	0.0:0.0895:0.3472:0.5633	.	193;157	Q86U70;Q86U70-3	LDB1_HUMAN;.	W	157;193	.	ENSP00000354616:R157W	R	-	1	2	LDB1	103859739	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.642000	0.46596	0.043000	0.15746	0.462000	0.41574	CGG		0.587	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		17	23	0	0	0	1	0	17	23				
KIAA1586	57691	broad.mit.edu	37	6	56918203	56918203	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56918203G>T	ENST00000370733.4	+	4	1113	c.906G>T	c.(904-906)aaG>aaT	p.K302N	KIAA1586_ENST00000545356.1_Missense_Mutation_p.K275N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	302							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAAGATGAAGATATTTAAGA	0.313																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(904-906)aaG>aaT		KIAA1586							39.0	42.0	41.0					6																	56918203		2203	4294	6497	SO:0001583	missense	57691						nucleic acid binding	g.chr6:56918203G>T	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.906G>T	6.37:g.56918203G>T	ENSP00000359768:p.Lys302Asn					KIAA1586_ENST00000545356.1_Missense_Mutation_p.K275N	p.K302N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	1113	+	Lung NSC(77;0.0969)		302					A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	c.906G>T	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259046	0.23051	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.25579	1.79;1.79	3.41	2.53	0.30540	Ribonuclease H-like (1);	.	.	.	.	T	0.06371	0.0164	N	0.08118	0	0.24072	N	0.99597	P;P	0.51351	0.944;0.944	P;P	0.47470	0.548;0.548	T	0.12734	-1.0536	9	0.39692	T	0.17	-6.3126	6.7122	0.23284	0.1355:0.0:0.8645:0.0	.	275;302	F5H2N6;Q9HCI6	.;K1586_HUMAN	N	302;275	ENSP00000359768:K302N;ENSP00000445507:K275N	ENSP00000359768:K302N	K	+	3	2	KIAA1586	57026162	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.638000	0.24674	0.760000	0.33108	0.467000	0.42956	AAG		0.313	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		19	28	1	0	7.41877e-09	1	8.93215e-09	19	28				
MRVI1	10335	broad.mit.edu	37	11	10615119	10615119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10615119C>T	ENST00000436272.1	-	16	2092	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T	MRVI1_ENST00000541483.1_Missense_Mutation_p.A493T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000545852.1_Missense_Mutation_p.A384T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A608T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A384T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A690T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.A699T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A608T|MRVI1_ENST00000547195.1_Missense_Mutation_p.A608T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A384T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A691T			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	672					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAACCACAGCAACGCTGACC	0.517																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1822-1824)Gct>Act		murine retrovirus integration site 1 homolog							105.0	104.0	104.0					11																	10615119		2201	4294	6495	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10615119C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2014G>A	11.37:g.10615119C>T	ENSP00000412229:p.Ala672Thr					LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.A699T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A691T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000424001.1_Missense_Mutation_p.A384T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A608T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.A690T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A384T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A672T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A384T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A608T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A493T	p.A608T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	16	2322	-			672					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1822G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.335372	0.95758	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.999;0.998	T	0.47911	-0.9080	10	0.62326	D	0.03	-10.7426	19.9357	0.97140	0.0:1.0:0.0:0.0	.	493;672;691;690	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	T	690;673;672;608;608;384;384;699;493;691;608	ENSP00000414598:A690T;ENSP00000412229:A672T;ENSP00000448278:A608T;ENSP00000446764:A608T;ENSP00000441971:A384T;ENSP00000401205:A384T;ENSP00000412130:A699T;ENSP00000437784:A493T;ENSP00000432436:A691T;ENSP00000432067:A608T	ENSP00000307885:A673T	A	-	1	0	MRVI1	10571695	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	7.037000	0.76531	2.715000	0.92844	0.655000	0.94253	GCT		0.517	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		23	31	0	0	0	1	0	23	31				
ENPEP	2028	broad.mit.edu	37	4	111464190	111464190	+	Missense_Mutation	SNP	G	G	A	rs142728357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111464190G>A	ENST00000265162.5	+	13	2306	c.1964G>A	c.(1963-1965)cGt>cAt	p.R655H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	655					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCAGCAGATCGTGCAAGTCTT	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		18569	0.001		0.0	False		,,,				2504	0.0					ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1963-1965)cGt>cAt		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						147.0	145.0	146.0					4																	111464190		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111464190G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1964G>A	4.37:g.111464190G>A	ENSP00000265162:p.Arg655His						p.R655H	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	13	2306	+		Hepatocellular(203;0.217)	655					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1964G>A	CCDS3691.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.7	4.556564	0.86231	.	.	ENSG00000138792	ENST00000265162	T	0.16597	2.33	5.41	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67313	-0.5702	10	0.87932	D	0	.	13.8697	0.63610	0.0737:0.0:0.9263:0.0	.	655	Q07075	AMPE_HUMAN	H	655	ENSP00000265162:R655H	ENSP00000265162:R655H	R	+	2	0	ENPEP	111683639	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	8.615000	0.90920	1.277000	0.44412	0.655000	0.94253	CGT		0.328	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			47	56	0	0	0	1	0	47	56				
TUBB4B	10383	broad.mit.edu	37	9	140137261	140137261	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140137261C>T	ENST00000340384.4	+	4	739	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	197					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	AAAACACAGACGAGACCTACT	0.527																																						ENST00000340384.4																			0											c.(589-591)gaC>gaT		tubulin, beta 4B class IVb							118.0	109.0	112.0					9																	140137261		2202	4300	6502	SO:0001819	synonymous_variant	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137261C>T	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.591C>T	9.37:g.140137261C>T							p.D197D	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	739	+			197					A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	c.591C>T	CCDS7039.1																																																																																				0.527	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		11	65	0	0	0	1	0	11	65				
RNF145	153830	broad.mit.edu	37	5	158601151	158601151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158601151C>T	ENST00000424310.2	-	6	996	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	RNF145_ENST00000520638.1_Missense_Mutation_p.G227S|RNF145_ENST00000519865.1_Missense_Mutation_p.G213S|RNF145_ENST00000274542.2_Missense_Mutation_p.G241S|RNF145_ENST00000521606.2_Missense_Mutation_p.G230S|RNF145_ENST00000518802.1_Missense_Mutation_p.G243S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	213						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGAGAAGGCCATATACCTCC	0.383																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(637-639)Ggc>Agc		ring finger protein 145							71.0	65.0	67.0					5																	158601151		2203	4299	6502	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158601151C>T	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.637G>A	5.37:g.158601151C>T	ENSP00000409064:p.Gly213Ser					RNF145_ENST00000519865.1_Missense_Mutation_p.G213S|RNF145_ENST00000518802.1_Missense_Mutation_p.G243S|RNF145_ENST00000521606.2_Missense_Mutation_p.G230S|RNF145_ENST00000520638.1_Missense_Mutation_p.G227S|RNF145_ENST00000274542.2_Missense_Mutation_p.G241S	p.G213S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	996	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	213					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.637G>A	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736328	0.89482	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	D;D;D;D;D;D;D	0.87412	-2.25;-2.19;-2.19;-2.23;-2.22;-2.25;-2.22	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D	0.59357	0.981;0.981;0.981;0.981;0.985;0.976	P;P;P;P;P;P	0.62560	0.832;0.832;0.832;0.832;0.904;0.741	D	0.89714	0.3914	10	0.56958	D	0.05	-10.4588	19.1722	0.93583	0.0:1.0:0.0:0.0	.	229;230;227;243;213;241	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	S	241;213;213;229;230;243;213;227	ENSP00000274542:G241S;ENSP00000430397:G213S;ENSP00000409064:G213S;ENSP00000430753:G229S;ENSP00000445115:G230S;ENSP00000430955:G243S;ENSP00000429071:G227S	ENSP00000274542:G241S	G	-	1	0	RNF145	158533729	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.776000	0.85560	2.604000	0.88044	0.557000	0.71058	GGC		0.383	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		16	26	0	0	0	1	0	16	26				
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P					peptidylprolyl isomerase (cyclophilin)-like 2									p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547																																						ENST00000406385.1																			1	Substitution - coding silent(1)	p.P193P(1)	ovary(1)	endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(577-579)ccG>ccA		peptidylprolyl isomerase (cyclophilin)-like 2							39.0	39.0	39.0					22																	22039067		2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22039067G>A		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.579G>A	22.37:g.22039067G>A						PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000335025.7_Silent_p.P193P	p.P193P			Q13356	PPIL2_HUMAN			10	639	+	Colorectal(54;0.105)		193						Silent	SNP	ENST00000335025.8	37	c.579G>A	CCDS13793.1																																																																																				0.547	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			11	26	0	0	0	1	0	11	26				
CPZ	8532	broad.mit.edu	37	4	8609139	8609139	+	Missense_Mutation	SNP	C	C	T	rs371735226		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8609139C>T	ENST00000360986.4	+	7	1388	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	CPZ_ENST00000315782.6_Missense_Mutation_p.T394M|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.T268M	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	405					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTTCTCCCACGCCCGACGAG	0.632											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(802-804)aCg>aTg		carboxypeptidase Z			MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	83.0	72.0	76.0		1214,803,1181	4.3	0.9	4		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	405/653,268/516,394/642	8609139	1,13005	2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8609139C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1214C>T	4.37:g.8609139C>T	ENSP00000354255:p.Thr405Met		OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	650	CPZ_ENST00000360986.4_Missense_Mutation_p.T405M|CPZ_ENST00000315782.6_Missense_Mutation_p.T394M|CPZ_ENST00000429646.2_5'UTR	p.T268M	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			7	1603	+			405					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.803C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	c	17.61	3.431539	0.62844	0.0	1.16E-4	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.12039	2.72;2.72;2.72	4.3	4.3	0.51218	Peptidase M14, carboxypeptidase A (2);	0.174720	0.48767	D	0.000161	T	0.45716	0.1356	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.98;0.992	T	0.60525	-0.7246	10	0.87932	D	0	-18.155	16.8375	0.85960	0.0:1.0:0.0:0.0	.	394;405	Q66K79-2;Q66K79	.;CBPZ_HUMAN	M	405;268;394	ENSP00000354255:T405M;ENSP00000371920:T268M;ENSP00000315074:T394M	ENSP00000315074:T394M	T	+	2	0	CPZ	8660039	0.995000	0.38212	0.861000	0.33841	0.508000	0.34012	4.249000	0.58766	1.962000	0.57031	0.444000	0.29173	ACG		0.632	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	18	0	0	0	1	0	5	18				
LINC00696	100128378	broad.mit.edu	37	3	52097332	52097332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52097332G>T	ENST00000541313.1	-	1	235	c.236C>A	c.(235-237)tCt>tAt	p.S79Y				Q6ZRV3	CC074_HUMAN	long intergenic non-protein coding RNA 696	79																	TTCCATGACAGAGATGGCTAA	0.537																																						ENST00000541313.1																			0											c.(235-237)tCt>tAt									256.0	239.0	244.0					3																	52097332		876	1991	2867	SO:0001583	missense	0							g.chr3:52097332G>T	AK127958		3p21.1	2013-01-16	2012-11-20	2012-11-20				"""Long non-coding RNAs"""	34426	non-coding RNA	RNA, long non-coding			"""chromosome 3 open reading frame 74"""	C3orf74			Standard	NR_027331		Approved		uc010hmb.2	Q6ZRV3		ENST00000541313.1:c.236C>A	3.37:g.52097332G>T	ENSP00000437714:p.Ser79Tyr						p.S79Y							1	235	-									Missense_Mutation	SNP	ENST00000541313.1	37	c.236C>A		.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381055	0.05000	.	.	ENSG00000256097	ENST00000541313	.	.	.	2.74	-2.02	0.07388	.	.	.	.	.	T	0.33673	0.0871	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38802	-0.9644	5	0.87932	D	0	.	2.8706	0.05616	0.3996:0.0:0.3638:0.2366	.	.	.	.	Y	79	.	ENSP00000437714:S79Y	S	-	2	0	C3orf74	52072372	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.599000	0.02085	-0.543000	0.06240	-0.768000	0.03414	TCT		0.537	LINC00696-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_027331		8	187	1	0	1.33987e-11	1	1.67317e-11	8	187				
KMT2A	4297	broad.mit.edu	37	11	118361992	118361992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118361992G>A	ENST00000389506.5	+	14	4778	c.4778G>A	c.(4777-4779)cGc>cAc	p.R1593H	KMT2A_ENST00000534358.1_Missense_Mutation_p.R1593H|KMT2A_ENST00000354520.4_Missense_Mutation_p.R1555H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1593					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAGTGTGATCGCTGGGTCCAT	0.383																																						ENST00000534358.1																			0											c.(4777-4779)cGc>cAc		lysine (K)-specific methyltransferase 2A							202.0	184.0	190.0					11																	118361992		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118361992G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4778G>A	11.37:g.118361992G>A	ENSP00000374157:p.Arg1593His					KMT2A_ENST00000389506.5_Missense_Mutation_p.R1593H|KMT2A_ENST00000354520.4_Missense_Mutation_p.R1555H	p.R1593H	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					14	4801	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4778G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862237	0.71949	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.112218	0.64402	D	0.000007	T	0.68274	0.2983	N	0.03983	-0.305	0.80722	D	1	P;P	0.47545	0.549;0.897	B;B	0.38264	0.269;0.255	T	0.71331	-0.4625	10	0.11485	T	0.65	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1593;1593	E9PQG7;Q03164	.;MLL1_HUMAN	H	1593;1593;1555;503;305	ENSP00000436786:R1593H;ENSP00000374157:R1593H;ENSP00000346516:R1555H;ENSP00000376612:R305H	ENSP00000346516:R1555H	R	+	2	0	MLL	117867202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.650000	0.83521	2.581000	0.87130	0.655000	0.94253	CGC		0.383	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		6	118	0	0	0	1	0	6	118				
IGSF9B	22997	broad.mit.edu	37	11	133790517	133790517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133790517G>A	ENST00000321016.8	-	18	3333	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1035C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1035	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGGGAGCGCCCTCCTGTA	0.662																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3103-3105)Cgc>Tgc		immunoglobulin superfamily, member 9B							55.0	64.0	61.0					11																	133790517		2020	4192	6212	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790517G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3103C>T	11.37:g.133790517G>A	ENSP00000317980:p.Arg1035Cys					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1035C	p.R1035C			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3333	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1035			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3103C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.190638	0.78789	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76186	-0.7;-1.0	4.93	4.93	0.64822	.	0.153946	0.30620	N	0.009223	T	0.78836	0.4346	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.82532	-0.0410	10	0.87932	D	0	.	17.7942	0.88565	0.0:0.0:1.0:0.0	.	1035	Q9UPX0	TUTLB_HUMAN	C	1035;877	ENSP00000317980:R1035C;ENSP00000436552:R877C	ENSP00000317980:R1035C	R	-	1	0	IGSF9B	133295727	1.000000	0.71417	0.966000	0.40874	0.915000	0.54546	7.531000	0.81973	2.286000	0.76751	0.550000	0.68814	CGC		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		36	53	0	0	0	1	0	36	53				
CARD6	84674	broad.mit.edu	37	5	40853382	40853382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40853382G>A	ENST00000254691.5	+	3	2147	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	650					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGCCGCCCTGGCCAGGGAGCT	0.517																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1948-1950)Gcc>Acc		caspase recruitment domain family, member 6							123.0	130.0	128.0					5																	40853382		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853382G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1948G>A	5.37:g.40853382G>A	ENSP00000254691:p.Ala650Thr					CARD6_ENST00000381677.3_Intron	p.A650T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2147	+			650					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1948G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137951	0.56936	.	.	ENSG00000132357	ENST00000254691	T	0.34072	1.38	4.65	3.78	0.43462	.	0.114273	0.39407	N	0.001373	T	0.40767	0.1130	M	0.84082	2.675	0.80722	D	1	P	0.52316	0.952	B	0.40636	0.335	T	0.51228	-0.8732	10	0.87932	D	0	-6.8506	10.3685	0.44039	0.0959:0.0:0.9041:0.0	.	650	Q9BX69	CARD6_HUMAN	T	650	ENSP00000254691:A650T	ENSP00000254691:A650T	A	+	1	0	CARD6	40889139	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.541000	0.67212	1.180000	0.42898	0.561000	0.74099	GCC		0.517	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			82	137	0	0	0	1	0	82	137				
TXNDC11	51061	broad.mit.edu	37	16	11785171	11785171	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11785171C>T	ENST00000356957.3	-	9	2063	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Silent_p.K625K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	652	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGTGCTTGCTTTGGATCCA	0.428																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1954-1956)aaG>aaA		thioredoxin domain containing 11							116.0	113.0	114.0					16																	11785171		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785171C>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1956G>A	16.37:g.11785171C>T						TXNDC11_ENST00000283033.5_Silent_p.K625K	p.K652K			Q6PKC3	TXD11_HUMAN			9	2063	-			652			Thioredoxin 2.		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1956G>A																																																																																					0.428	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		32	46	0	0	0	1	0	32	46				
CEBPE	1053	broad.mit.edu	37	14	23588171	23588171	+	Missense_Mutation	SNP	C	C	T	rs200138272		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23588171C>T	ENST00000206513.5	-	1	654	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	44					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCGATGTAGGCGGAGAGGTCA	0.662																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(130-132)Gcc>Acc		CCAAT/enhancer binding protein (C/EBP), epsilon		C	THR/ALA	0,4406		0,0,2203	52.0	56.0	55.0		130	4.4	1.0	14		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEBPE	NM_001805.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	44/282	23588171	1,13005	2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23588171C>T		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.130G>A	14.37:g.23588171C>T	ENSP00000206513:p.Ala44Thr						p.A44T	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	654	-	all_cancers(95;4.6e-05)		44					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.130G>A	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681518	0.47991	0.0	1.16E-4	ENSG00000092067	ENST00000206513	T	0.35973	1.28	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.55213	1.73	0.38552	D	0.949485	D	0.57899	0.981	B	0.36719	0.231	T	0.26950	-1.0088	10	0.49607	T	0.09	-19.1992	9.618	0.39704	0.2084:0.7916:0.0:0.0	.	44	Q15744	CEBPE_HUMAN	T	44	ENSP00000206513:A44T	ENSP00000206513:A44T	A	-	1	0	CEBPE	22658011	0.952000	0.32445	0.972000	0.41901	0.981000	0.71138	2.057000	0.41365	2.240000	0.73641	0.561000	0.74099	GCC		0.662	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		17	32	0	0	0	1	0	17	32				
CBLL1	79872	broad.mit.edu	37	7	107395924	107395924	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107395924A>T	ENST00000440859.3	+	5	895	c.428A>T	c.(427-429)aAg>aTg	p.K143M	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Missense_Mutation_p.K142M	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	143					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAGGGAGATAAGATGTGTCCA	0.299																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(427-429)aAg>aTg		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							113.0	117.0	116.0					7																	107395924		2203	4297	6500	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107395924A>T	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.428A>T	7.37:g.107395924A>T	ENSP00000401277:p.Lys143Met					CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Missense_Mutation_p.K142M	p.K143M	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			5	895	+			143					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.428A>T	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589640	0.86851	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.38722	1.14;1.12;1.22	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69624	-0.5095	10	0.87932	D	0	-1.7352	15.7955	0.78407	1.0:0.0:0.0:0.0	.	142;143	B7ZM03;Q75N03	.;HAKAI_HUMAN	M	143;22;142;93;89	ENSP00000401277:K143M;ENSP00000222597:K142M;ENSP00000410615:K93M	ENSP00000222597:K142M	K	+	2	0	CBLL1	107183160	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.756000	0.91651	2.200000	0.70718	0.455000	0.32223	AAG		0.299	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		7	126	0	0	0	1	0	7	126				
PNLIPRP3	119548	broad.mit.edu	37	10	118225660	118225660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118225660T>C	ENST00000369230.3	+	8	1053	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	303					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCCTTGTAGATCCTACACATC	0.318																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(907-909)Tcc>Ccc		pancreatic lipase-related protein 3							110.0	104.0	106.0					10																	118225660		2202	4299	6501	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118225660T>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.907T>C	10.37:g.118225660T>C	ENSP00000358232:p.Ser303Pro						p.S303P	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	8	1053	+			303						Missense_Mutation	SNP	ENST00000369230.3	37	c.907T>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326170	0.41197	.	.	ENSG00000203837	ENST00000369230	D	0.93712	-3.27	4.93	4.93	0.64822	Lipase, N-terminal (1);	0.349225	0.20938	N	0.082964	D	0.96281	0.8787	M	0.88979	2.995	0.28326	N	0.921993	D	0.63880	0.993	P	0.62740	0.906	D	0.92338	0.5879	10	0.87932	D	0	.	9.3504	0.38133	0.2585:0.0:0.0:0.7415	.	303	Q17RR3	LIPR3_HUMAN	P	303	ENSP00000358232:S303P	ENSP00000358232:S303P	S	+	1	0	PNLIPRP3	118215650	0.633000	0.27181	0.974000	0.42286	0.931000	0.56810	1.515000	0.35845	2.088000	0.63022	0.533000	0.62120	TCC		0.318	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		22	28	0	0	0	1	0	22	28				
ME1	4199	broad.mit.edu	37	6	83938602	83938602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83938602C>A	ENST00000369705.3	-	10	1191	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	ME1_ENST00000541327.1_Nonsense_Mutation_p.E193*|ME1_ENST00000543031.1_Nonsense_Mutation_p.E284*	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	359					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TTCATTTCTTCATGTTCATGG	0.408																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1075-1077)Gaa>Taa		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						238.0	230.0	233.0					6																	83938602		2203	4300	6503	SO:0001587	stop_gained	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83938602C>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1075G>T	6.37:g.83938602C>A	ENSP00000358719:p.Glu359*					ME1_ENST00000541327.1_Nonsense_Mutation_p.E193*|ME1_ENST00000543031.1_Nonsense_Mutation_p.E284*	p.E359*	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	10	1191	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	359					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Nonsense_Mutation	SNP	ENST00000369705.3	37	c.1075G>T	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992783	0.74703	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	.	.	.	5.86	-1.07	0.09968	.	0.676648	0.16212	N	0.224415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.661	6.5327	0.22336	0.0:0.3699:0.2943:0.3358	.	.	.	.	X	359;19;193;284	.	ENSP00000358719:E359X	E	-	1	0	ME1	83995321	0.248000	0.23930	0.978000	0.43139	0.240000	0.25518	-0.312000	0.08113	-0.116000	0.11893	-0.145000	0.13849	GAA		0.408	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			45	89	1	0	4.01344e-20	1	5.26117e-20	45	89				
ZNF615	284370	broad.mit.edu	37	19	52497112	52497112	+	Missense_Mutation	SNP	C	C	T	rs530016001		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497112C>T	ENST00000602063.1	-	6	1566	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ZNF615_ENST00000594083.1_Missense_Mutation_p.G417E|ZNF615_ENST00000376716.5_Missense_Mutation_p.G406E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G411E|ZNF615_ENST00000598071.1_Missense_Mutation_p.G417E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAAGCCTTTTCCACATTCACT	0.388																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1216-1218)gGa>gAa		zinc finger protein 615							91.0	82.0	85.0					19																	52497112		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497112C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1217G>A	19.37:g.52497112C>T	ENSP00000473089:p.Gly406Glu					ZNF615_ENST00000594083.1_Missense_Mutation_p.G417E|ZNF615_ENST00000598071.1_Missense_Mutation_p.G417E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G411E|ZNF615_ENST00000376716.5_Missense_Mutation_p.G406E	p.G406E			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1566	-		all_neural(266;0.117)	406					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1217G>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020076	0.35606	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.06933	3.24;3.24	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20333	0.0489	M	0.64676	1.99	0.32963	D	0.521315	D;D;D;D	0.59767	0.986;0.982;0.982;0.986	P;P;P;P	0.57425	0.82;0.799;0.799;0.731	T	0.26950	-1.0088	9	0.66056	D	0.02	.	13.1825	0.59663	0.0:1.0:0.0:0.0	.	411;413;417;406	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	406;416;411;416	ENSP00000365906:G406E;ENSP00000375672:G411E	ENSP00000347019:G416E	G	-	2	0	ZNF615	57188924	0.836000	0.29430	0.991000	0.47740	0.831000	0.47069	2.103000	0.41806	1.651000	0.50673	0.585000	0.79938	GGA		0.388	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		5	61	0	0	0	1	0	5	61				
CCNY	219771	broad.mit.edu	37	10	35819081	35819081	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35819081A>G	ENST00000374704.4	+	7	669	c.489A>G	c.(487-489)aaA>aaG	p.K163K	CCNY_ENST00000265375.9_Silent_p.K109K|CCNY_ENST00000339497.5_Silent_p.K138K|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Silent_p.K109K	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	163	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ATTATGACAAACACAACCCAG	0.468																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(487-489)aaA>aaG		cyclin Y							130.0	96.0	108.0					10																	35819081		2203	4300	6503	SO:0001819	synonymous_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35819081A>G	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.489A>G	10.37:g.35819081A>G						CCNY_ENST00000339497.5_Silent_p.K138K|CCNY_ENST00000374706.1_Silent_p.K109K|CCNY_ENST00000265375.9_Silent_p.K109K|CCNY_ENST00000492478.1_3'UTR	p.K163K	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			7	669	+			163			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Silent	SNP	ENST00000374704.4	37	c.489A>G	CCDS7189.1																																																																																				0.468	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		28	44	0	0	0	1	0	28	44				
COL5A1	1289	broad.mit.edu	37	9	137591761	137591761	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137591761C>T	ENST00000371817.3	+	3	698	c.284C>T	c.(283-285)gCa>gTa	p.A95V	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	95	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGCGTCTGCATTTCCCGAG	0.577																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(283-285)gCa>gTa		collagen, type V, alpha 1							85.0	80.0	82.0					9																	137591761		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591761C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.284C>T	9.37:g.137591761C>T	ENSP00000360882:p.Ala95Val					COL5A1_ENST00000464187.1_3'UTR	p.A95V	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	698	+		Myeloproliferative disorder(178;0.0341)	95			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.284C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460977	0.43736	.	.	ENSG00000130635	ENST00000371817	D	0.89270	-2.49	4.81	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.950526	0.08681	U	0.909413	T	0.73845	0.3639	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58668	-0.7596	10	0.24483	T	0.36	.	11.4607	0.50208	0.1412:0.723:0.1358:0.0	.	95	P20908	CO5A1_HUMAN	V	95	ENSP00000360882:A95V	ENSP00000360882:A95V	A	+	2	0	COL5A1	136731582	0.001000	0.12720	0.002000	0.10522	0.669000	0.39330	0.731000	0.26058	0.526000	0.28541	0.655000	0.94253	GCA		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		24	31	0	0	0	1	0	24	31				
PIF1	80119	broad.mit.edu	37	15	65114749	65114749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65114749G>A	ENST00000268043.4	-	3	713	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	PIF1_ENST00000333425.6_Missense_Mutation_p.L207F|PIF1_ENST00000559239.1_Missense_Mutation_p.L207F					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						TCCTCAGAAAGCTGTGGCTTG	0.622																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(619-621)Ctt>Ttt		PIF1 5'-to-3' DNA helicase							53.0	48.0	50.0					15																	65114749		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65114749G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.619C>T	15.37:g.65114749G>A	ENSP00000268043:p.Leu207Phe					PIF1_ENST00000559239.1_Missense_Mutation_p.L207F|PIF1_ENST00000333425.6_Missense_Mutation_p.L207F	p.L207F			Q9H611	PIF1_HUMAN			3	713	-			207			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.619C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321358	0.81580	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	D;D	0.85861	-2.04;-2.04	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.93064	0.6477	10	0.49607	T	0.09	-4.1332	16.6408	0.85098	0.0:0.0:1.0:0.0	.	207;207	Q9H611-2;Q9H611	.;PIF1_HUMAN	F	207	ENSP00000268043:L207F;ENSP00000328174:L207F	ENSP00000268043:L207F	L	-	1	0	PIF1	62901802	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	6.339000	0.72969	2.509000	0.84616	0.561000	0.74099	CTT		0.622	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		14	15	0	0	0	1	0	14	15				
FAM8A1	51439	broad.mit.edu	37	6	17601185	17601185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17601185C>T	ENST00000259963.3	+	1	600	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	182						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGCCCCGGGGCCGCGGGGCCT	0.756																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(544-546)gCc>gTc		family with sequence similarity 8, member A1							4.0	5.0	5.0					6																	17601185		1436	3183	4619	SO:0001583	missense	51439					integral to membrane		g.chr6:17601185C>T	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.545C>T	6.37:g.17601185C>T	ENSP00000259963:p.Ala182Val						p.A182V	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		1	600	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	182					B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.545C>T	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433237	0.25813	.	.	ENSG00000137414	ENST00000259963	.	.	.	3.14	2.25	0.28309	.	0.997717	0.08114	N	0.995760	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	9	0.22706	T	0.39	-0.1129	7.3926	0.26919	0.0:0.8689:0.0:0.1311	.	182	Q9UBU6	FA8A1_HUMAN	V	182	.	ENSP00000259963:A182V	A	+	2	0	FAM8A1	17709164	0.006000	0.16342	0.015000	0.15790	0.006000	0.05464	1.954000	0.40362	0.645000	0.30675	0.484000	0.47621	GCC		0.756	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			8	7	0	0	0	1	0	8	7				
LRRC53	100144878	broad.mit.edu	37	1	74957842	74957842	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74957842G>A	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_Missense_Mutation_p.C748Y|TNNI3K_ENST00000370891.2_Missense_Mutation_p.C849Y|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.C862Y			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTTCTGATTGCCTGGTGAAC	0.478																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2545-2547)tGc>tAc		TNNI3 interacting kinase							197.0	199.0	198.0					1																	74957842		2203	4300	6503	SO:0001627	intron_variant	51086							g.chr1:74957842G>A			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8783C>T	1.37:g.74957842G>A						FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.C849Y|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.C748Y	p.C849Y	NM_001112808.2	NP_001106279.1					25	2562	+									Missense_Mutation	SNP	ENST00000294635.4	37	c.2546G>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.786647	0.90367	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.74421	-0.84;-0.84;-0.83	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.83275	0.986;0.996	T	0.80843	-0.1201	10	0.87932	D	0	.	19.5893	0.95501	0.0:0.0:1.0:0.0	.	748;849	Q59H18;Q59H18-1	TNI3K_HUMAN;.	Y	849;849;748	ENSP00000450895:C849Y;ENSP00000359928:C849Y;ENSP00000322251:C748Y	ENSP00000322251:C748Y	C	+	2	0	RP11-653A5.2;AC093158.1	74730430	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.987000	0.93497	2.639000	0.89480	0.655000	0.94253	TGC		0.478	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			63	93	0	0	0	1	0	63	93				
CHRNA1	1134	broad.mit.edu	37	2	175618430	175618430	+	Silent	SNP	G	G	A	rs534185815	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175618430G>A	ENST00000261007.5	-	7	720	c.654C>T	c.(652-654)agC>agT	p.S218S	CHRNA1_ENST00000348749.5_Silent_p.S193S|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Silent_p.S193S|CHRNA1_ENST00000409219.1_Silent_p.S193S|CHRNA1_ENST00000409542.1_Silent_p.S111S	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	218					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CCCACTCCCCGCTCTCCATGA	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19870	0.0		0.0	False		,,,				2504	0.0					ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(577-579)agC>agT		cholinergic receptor, nicotinic, alpha 1 (muscle)							69.0	67.0	68.0					2																	175618430		2203	4300	6503	SO:0001819	synonymous_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618430G>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.654C>T	2.37:g.175618430G>A						AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.S111S|CHRNA1_ENST00000409323.1_Silent_p.S193S|CHRNA1_ENST00000409219.1_Silent_p.S193S|CHRNA1_ENST00000261007.5_Silent_p.S218S	p.S193S	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			6	656	-			218					B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	c.579C>T	CCDS33331.1																																																																																				0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			15	17	0	0	0	1	0	15	17				
HIVEP3	59269	broad.mit.edu	37	1	41976860	41976860	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41976860G>T	ENST00000372583.1	-	9	7368	c.6483C>A	c.(6481-6483)ctC>ctA	p.L2161L	HIVEP3_ENST00000429157.2_Silent_p.L2160L|HIVEP3_ENST00000247584.5_Silent_p.L2161L|HIVEP3_ENST00000372584.1_Silent_p.L2160L|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2161					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGTCATGGAGGGCGGAGA	0.622																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6478-6480)ctC>ctA		human immunodeficiency virus type I enhancer binding protein 3							81.0	79.0	80.0					1																	41976860		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976860G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6483C>A	1.37:g.41976860G>T						HIVEP3_ENST00000372583.1_Silent_p.L2161L|HIVEP3_ENST00000247584.5_Silent_p.L2161L|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.L2160L	p.L2160L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			8	7494	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2161					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.6480C>A	CCDS463.1																																																																																				0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		5	42	1	0	0.0215528	1	0.0221649	5	42				
WDR6	11180	broad.mit.edu	37	3	49050759	49050759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49050759G>A	ENST00000608424.1	+	2	1831	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.D547N|WDR6_ENST00000395474.3_Missense_Mutation_p.D628N|WDR6_ENST00000415265.2_Missense_Mutation_p.D46N			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	598					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTTTGTACGAGACGGCCAGCT	0.577																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1882-1884)Gac>Aac		WD repeat domain 6							75.0	54.0	61.0					3																	49050759		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050759G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1792G>A	3.37:g.49050759G>A	ENSP00000477389:p.Asp598Asn					WDR6_ENST00000415265.2_Missense_Mutation_p.D46N|WDR6_ENST00000448293.1_Missense_Mutation_p.D547N|WDR6_ENST00000489684.1_3'UTR	p.D628N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2162	+			598					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1882G>A		.	.	.	.	.	.	.	.	.	.	G	2.294	-0.361806	0.05103	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;D	0.90385	2.82;-2.66	5.35	2.56	0.30785	Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.573867	0.20297	N	0.095120	T	0.75766	0.3894	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.004;0.0;0.023	B;B;B	0.15870	0.004;0.0;0.014	T	0.60047	-0.7339	10	0.17369	T	0.5	-3.1817	5.2467	0.15500	0.2207:0.0:0.6353:0.144	.	46;598;547	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	N	628;46;547	ENSP00000378857:D628N;ENSP00000413432:D547N	ENSP00000378857:D628N	D	+	1	0	WDR6	49025763	0.799000	0.28903	0.109000	0.21407	0.280000	0.26924	1.818000	0.39012	0.235000	0.21160	0.561000	0.74099	GAC		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			9	16	0	0	0	1	0	9	16				
XIRP2	129446	broad.mit.edu	37	2	168107555	168107555	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168107555C>A	ENST00000409195.1	+	9	9742	c.9653C>A	c.(9652-9654)cCt>cAt	p.P3218H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3218H|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2996H|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3043					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCATGTCTCCTGCAACACTT	0.453																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9652-9654)cCt>cAt		xin actin-binding repeat containing 2							70.0	69.0	69.0					2																	168107555		1928	4132	6060	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107555C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9653C>A	2.37:g.168107555C>A	ENSP00000386840:p.Pro3218His					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2996H|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3218H|XIRP2_ENST00000420519.1_Intron	p.P3218H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9742	+			3043					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9653C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716401	0.68844	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03004	4.09;4.09;4.08	5.45	5.45	0.79879	.	0.369002	0.30840	N	0.008776	T	0.18800	0.0451	M	0.72894	2.215	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	T	0.00025	-1.2316	10	0.72032	D	0.01	-15.7534	18.4306	0.90624	0.0:1.0:0.0:0.0	.	3043;3043;2996	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3218;3218;2996;632	ENSP00000386840:P3218H;ENSP00000295237:P3218H;ENSP00000387255:P2996H	ENSP00000295237:P3218H	P	+	2	0	XIRP2	167815801	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.859000	0.55987	2.729000	0.93468	0.460000	0.39030	CCT		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	77	1	0	1.23904e-05	1	1.39987e-05	4	77				
CDC42BPA	8476	broad.mit.edu	37	1	227300398	227300398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227300398G>A	ENST00000366769.3	-	13	3155	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366767.3_Intron	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGTTCTGCGCAGTTCTTGC	0.413																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(1864-1866)Cgc>Tgc		CDC42 binding protein kinase alpha (DMPK-like)							221.0	209.0	213.0					1																	227300398		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227300398G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1864C>T	1.37:g.227300398G>A	ENSP00000355731:p.Arg622Cys					CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R622C	p.R622C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			13	3155	-		all_cancers(173;0.156)|Prostate(94;0.0792)	622						Missense_Mutation	SNP	ENST00000366769.3	37	c.1864C>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137236	0.94517	.	.	ENSG00000143776	ENST00000366769;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T	0.68765	-0.33;-0.34;-0.35;-0.33;-0.3;-0.35	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.999	D	0.85396	0.1128	10	0.87932	D	0	.	19.5427	0.95280	0.0:0.0:1.0:0.0	.	622;622;622	F5H5N0;Q5VT25-4;Q5VT25-5	.;.;.	C	622	ENSP00000355731:R622C;ENSP00000335341:R622C;ENSP00000355728:R622C;ENSP00000355726:R622C;ENSP00000443275:R622C;ENSP00000355727:R622C	ENSP00000335341:R622C	R	-	1	0	CDC42BPA	225367021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.029000	0.88807	2.610000	0.88304	0.591000	0.81541	CGC		0.413	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		56	129	0	0	0	1	0	56	129				
KMO	8564	broad.mit.edu	37	1	241718931	241718931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241718931G>T	ENST00000366559.4	+	5	643	c.332G>T	c.(331-333)aGa>aTa	p.R111I	KMO_ENST00000366557.4_Missense_Mutation_p.R111I|KMO_ENST00000366558.3_Missense_Mutation_p.R111I|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCTGTAAGCAGAGAAAATCTA	0.308																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(331-333)aGa>aTa		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							92.0	94.0	93.0					1																	241718931		2202	4298	6500	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241718931G>T	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.332G>T	1.37:g.241718931G>T	ENSP00000355517:p.Arg111Ile					KMO_ENST00000366557.4_Missense_Mutation_p.R111I|KMO_ENST00000366558.3_Missense_Mutation_p.R111I|KMO_ENST00000484628.1_3'UTR	p.R111I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		5	643	+	Ovarian(103;0.103)|all_lung(81;0.23)		111						Missense_Mutation	SNP	ENST00000366559.4	37	c.332G>T	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765083	0.90020	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.50813	0.73;0.73;0.73	5.54	5.54	0.83059	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;1.0	D	0.87282	0.2293	10	0.87932	D	0	.	16.9499	0.86242	0.0:0.0:1.0:0.0	.	111;111;111	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	I	111	ENSP00000355517:R111I;ENSP00000355516:R111I;ENSP00000355515:R111I	ENSP00000355515:R111I	R	+	2	0	KMO	239785554	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.750000	0.85110	2.590000	0.87494	0.591000	0.81541	AGA		0.308	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		6	39	1	0	8.12818e-05	1	8.99451e-05	6	39				
TMX2	51075	broad.mit.edu	37	11	57505440	57505440	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57505440A>G	ENST00000278422.4	+	3	318	c.306A>G	c.(304-306)acA>acG	p.T102T	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	102					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGGCCAACACAATTCTTTTCT	0.428																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(304-306)acA>acG		thioredoxin-related transmembrane protein 2							165.0	151.0	155.0					11																	57505440		2201	4296	6497	SO:0001819	synonymous_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505440A>G	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.306A>G	11.37:g.57505440A>G						TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	p.T102T	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			3	318	+			102					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	c.306A>G	CCDS7967.1																																																																																				0.428	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		9	168	0	0	0	1	0	9	168				
SLC26A8	116369	broad.mit.edu	37	6	35912039	35912039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35912039G>A	ENST00000490799.1	-	20	2904	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q746*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q851*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACAGGCTGTTGGATCTTGATG	0.463																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2551-2553)Caa>Taa		solute carrier family 26 (anion exchanger), member 8							78.0	81.0	80.0					6																	35912039		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35912039G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2551C>T	6.37:g.35912039G>A	ENSP00000417638:p.Gln851*					SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q851*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q746*	p.Q851*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			20	2904	-			851			Interaction with RACGAP1.			Nonsense_Mutation	SNP	ENST00000490799.1	37	c.2551C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	38	6.813348	0.97857	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.42	1.25	0.21368	.	2.939400	0.01010	N	0.003811	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	7.9231	0.29859	0.091:0.4863:0.4227:0.0	.	.	.	.	X	851;746;851	.	ENSP00000347778:Q851X	Q	-	1	0	SLC26A8	36020017	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.870000	0.28010	0.692000	0.31613	0.650000	0.86243	CAA		0.463	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			22	50	0	0	0	1	0	22	50				
HPCAL1	3241	broad.mit.edu	37	2	10566879	10566879	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10566879G>T	ENST00000381765.3	+	6	1040	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C	HPCAL1_ENST00000307845.3_Missense_Mutation_p.G172C	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	172	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		ATTCATCAGAGGTGCCAAGAG	0.572																																					Pancreas(70;1384 1800 31595 46836)	ENST00000381765.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(514-516)Ggt>Tgt		hippocalcin-like 1							134.0	134.0	134.0					2																	10566879		2203	4300	6503	SO:0001583	missense	3241						calcium ion binding	g.chr2:10566879G>T		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.514G>T	2.37:g.10566879G>T	ENSP00000371184:p.Gly172Cys					HPCAL1_ENST00000307845.3_Missense_Mutation_p.G172C	p.G172C	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	6	1040	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		172			EF-hand 4.		Q969S5	Missense_Mutation	SNP	ENST00000381765.3	37	c.514G>T	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085048	0.94100	.	.	ENSG00000115756	ENST00000307845;ENST00000381765	T;T	0.66995	-0.24;-0.24	5.05	5.05	0.67936	EF-hand-like domain (1);	0.055195	0.64402	D	0.000001	T	0.80670	0.4667	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82673	-0.0341	10	0.72032	D	0.01	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	172	P37235	HPCL1_HUMAN	C	172	ENSP00000310749:G172C;ENSP00000371184:G172C	ENSP00000310749:G172C	G	+	1	0	HPCAL1	10484330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.338000	0.79540	0.650000	0.86243	GGT		0.572	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		47	69	1	0	1.54043e-34	1	2.07138e-34	47	69				
HELZ2	85441	broad.mit.edu	37	20	62192213	62192213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62192213G>T	ENST00000467148.1	-	15	7285	c.7216C>A	c.(7216-7218)Ctg>Atg	p.L2406M	HELZ2_ENST00000427522.2_Missense_Mutation_p.L1837M	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2406	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GACCGGTCCAGACCCAGGTTT	0.627																																						ENST00000467148.1																			0											c.(7216-7218)Ctg>Atg		helicase with zinc finger 2, transcriptional coactivator							97.0	108.0	104.0					20																	62192213		2203	4300	6503	SO:0001583	missense	85441							g.chr20:62192213G>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7216C>A	20.37:g.62192213G>T	ENSP00000417401:p.Leu2406Met					HELZ2_ENST00000427522.2_Missense_Mutation_p.L1837M	p.L2406M	NM_001037335.2	NP_001032412.2					15	7285	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.7216C>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.571976	0.00895	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.94046	-3.34;-3.34	4.15	0.0341	0.14182	ATPase, AAA+ type, core (1);	0.136080	0.45361	N	0.000374	D	0.85539	0.5720	L	0.28504	0.86	0.26390	N	0.97658	B;B	0.27656	0.184;0.153	B;B	0.33799	0.17;0.129	T	0.72050	-0.4407	10	0.16420	T	0.52	-19.8035	5.59	0.17295	0.1217:0.0:0.2369:0.6414	.	2406;1837	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	M	1837;2406	ENSP00000393257:L1837M;ENSP00000417401:L2406M	ENSP00000393257:L1837M	L	-	1	2	RP4-697K14.7	61662657	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	3.072000	0.50049	0.573000	0.29400	0.491000	0.48974	CTG		0.627	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	78	1	0	2.7689e-08	1	3.31013e-08	7	78				
SLC26A8	116369	broad.mit.edu	37	6	35949922	35949922	+	Missense_Mutation	SNP	G	G	A	rs377430788		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35949922G>A	ENST00000490799.1	-	8	1354	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	SLC26A8_ENST00000394602.2_Missense_Mutation_p.T229M|SLC26A8_ENST00000355574.2_Missense_Mutation_p.T334M	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAATAAGCGTCTGGCTGGT	0.423																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1000-1002)aCg>aTg		solute carrier family 26 (anion exchanger), member 8		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	123.0	113.0	117.0		686,1001,1001	-11.7	0.0	6		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC26A8	NM_138718.2,NM_052961.3,NM_001193476.1	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	229/866,334/971,334/971	35949922	1,13005	2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35949922G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1001C>T	6.37:g.35949922G>A	ENSP00000417638:p.Thr334Met					SLC26A8_ENST00000355574.2_Missense_Mutation_p.T334M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.T229M	p.T334M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			8	1354	-			334						Missense_Mutation	SNP	ENST00000490799.1	37	c.1001C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544158	0.04024	0.0	1.16E-4	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95001	-3.22;-3.58;-3.22	5.84	-11.7	0.00046	Sulphate transporter (1);	1.399460	0.04141	N	0.319632	T	0.62270	0.2414	N	0.01109	-1.01	0.09310	N	1	B;B	0.17852	0.017;0.024	B;B	0.11329	0.006;0.005	T	0.67601	-0.5629	10	0.26408	T	0.33	.	12.3297	0.55033	0.116:0.0:0.6189:0.2651	.	334;229	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	M	334;229;334	ENSP00000417638:T334M;ENSP00000378100:T229M;ENSP00000347778:T334M	ENSP00000347778:T334M	T	-	2	0	SLC26A8	36057900	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.703000	0.00822	-2.827000	0.00341	-0.808000	0.03180	ACG		0.423	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			47	58	0	0	0	1	0	47	58				
CASP1	834	broad.mit.edu	37	11	104900497	104900497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900497G>T	ENST00000533400.1	-	6	792	c.757C>A	c.(757-759)Cca>Aca	p.P253T	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.P232T|CASP1_ENST00000534497.1_Missense_Mutation_p.P160T|CASP1_ENST00000527979.1_Missense_Mutation_p.P216T|CASP1_ENST00000526568.1_Missense_Mutation_p.P160T|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Missense_Mutation_p.P160T|CASP1_ENST00000525825.1_Missense_Mutation_p.P232T|CASP1_ENST00000598974.1_Missense_Mutation_p.P253T|CASP1_ENST00000593315.1_Missense_Mutation_p.P232T|CASP1_ENST00000436863.3_Missense_Mutation_p.P253T|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.P214T|CASP1_ENST00000594519.1_Missense_Mutation_p.P160T	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	253					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	AGTATATCTGGGACTTGCTCA	0.478																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(757-759)Cca>Aca		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						144.0	129.0	134.0					11																	104900497		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104900497G>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.757C>A	11.37:g.104900497G>T	ENSP00000433138:p.Pro253Thr					CASP1_ENST00000531166.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.P253T|CASP1_ENST00000393136.4_Missense_Mutation_p.P232T|CASP1_ENST00000525825.1_Missense_Mutation_p.P232T|CASP1_ENST00000534497.1_Missense_Mutation_p.P160T|CASP1_ENST00000594519.1_Missense_Mutation_p.P160T|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.P214T|CASP1_ENST00000527979.1_Missense_Mutation_p.P216T|CASP1_ENST00000593315.1_Missense_Mutation_p.P232T|CASP1_ENST00000446369.1_Missense_Mutation_p.P160T|CASP1_ENST00000526568.1_Missense_Mutation_p.P160T|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.P253T	p.P253T	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	792	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	253					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.757C>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	14.25	2.477997	0.44044	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	4.69	-4.3	0.03710	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.737030	0.13382	N	0.392028	T	0.28566	0.0707	M	0.69823	2.125	0.09310	N	1	B;B;P;B;B;B;B	0.44578	0.323;0.203;0.838;0.27;0.316;0.118;0.436	P;B;P;B;P;B;B	0.55965	0.453;0.034;0.788;0.436;0.572;0.324;0.436	T	0.14699	-1.0463	10	0.51188	T	0.08	.	1.9019	0.03269	0.3116:0.3821:0.1769:0.1294	.	214;160;253;232;253;216;160	B4DVD8;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	T	102;160;216;253;253;160;232;232;160;214	ENSP00000435536:P102T;ENSP00000434250:P160T;ENSP00000432340:P216T;ENSP00000433138:P253T;ENSP00000410076:P253T;ENSP00000403260:P160T;ENSP00000376844:P232T;ENSP00000434779:P232T;ENSP00000436875:P160T;ENSP00000434259:P214T	ENSP00000376844:P232T	P	-	1	0	CASP1	104405707	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.227000	0.02950	-0.902000	0.03886	0.552000	0.68991	CCA		0.478	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		5	103	1	0	2.0095e-06	1	2.31757e-06	5	103				
GRB7	2886	broad.mit.edu	37	17	37899152	37899152	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37899152T>C	ENST00000309156.4	+	4	565	c.308T>C	c.(307-309)gTa>gCa	p.V103A	GRB7_ENST00000394209.2_Splice_Site_p.V103A|GRB7_ENST00000309185.3_Splice_Site_p.V103A|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394204.1_Splice_Site_p.V103A|GRB7_ENST00000445327.2_Splice_Site_p.V126A|GRB7_ENST00000394211.3_Splice_Site_p.V103A	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	103	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCGCAGGTAGTAAAGGTG	0.587																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.e4-1		growth factor receptor-bound protein 7							83.0	76.0	79.0					17																	37899152		2203	4300	6503	SO:0001630	splice_region_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37899152T>C	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.307-1T>C	17.37:g.37899152T>C						GRB7_ENST00000309185.3_Splice_Site_p.V103_splice|GRB7_ENST00000445327.2_Splice_Site_p.V126_splice|GRB7_ENST00000394211.3_Splice_Site_p.V103_splice|GRB7_ENST00000394204.1_Splice_Site_p.V103_splice|GRB7_ENST00000394209.2_Splice_Site_p.V103_splice|GRB7_ENST00000578702.1_Intron	p.V103_splice	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	565	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		103			Ras-associating.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Splice_Site	SNP	ENST00000309156.4	37	c.306_splice	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688899	0.29962	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.6	3.52	0.40303	Ras-association (3);	0.127505	0.52532	D	0.000075	T	0.33731	0.0873	M	0.78049	2.395	0.48975	D	0.999735	D;P	0.55385	0.971;0.536	P;P	0.53062	0.717;0.449	T	0.10154	-1.0642	10	0.25751	T	0.34	-14.8433	9.4717	0.38847	0.0:0.0865:0.0:0.9135	.	103;103	Q14451-2;Q14451	.;GRB7_HUMAN	A	103;103;103;103;126;103	ENSP00000311752:V103A;ENSP00000310771:V103A;ENSP00000377761:V103A;ENSP00000377759:V103A;ENSP00000403459:V126A;ENSP00000377754:V103A	ENSP00000310771:V103A	V	+	2	0	GRB7	35152678	1.000000	0.71417	0.980000	0.43619	0.312000	0.27988	3.882000	0.56160	0.909000	0.36697	0.459000	0.35465	GTA		0.587	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	Missense_Mutation	5	44	0	0	0	1	0	5	44				
JAM3	83700	broad.mit.edu	37	11	134018710	134018710	+	Missense_Mutation	SNP	G	G	T	rs376974612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134018710G>T	ENST00000299106.4	+	8	1053	c.894G>T	c.(892-894)gaG>gaT	p.E298D	JAM3_ENST00000529443.2_Missense_Mutation_p.E343D|NCAPD3_ENST00000526787.2_5'Flank|JAM3_ENST00000441717.3_Missense_Mutation_p.E247D			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	298					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCACTGACGAGGAGGTAATCA	0.463																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(892-894)gaG>gaT		junctional adhesion molecule 3							65.0	62.0	63.0					11																	134018710		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134018710G>T	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.894G>T	11.37:g.134018710G>T	ENSP00000299106:p.Glu298Asp					JAM3_ENST00000529443.2_Missense_Mutation_p.E343D|JAM3_ENST00000441717.3_Missense_Mutation_p.E247D	p.E298D			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	8	1053	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	298					B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.894G>T	CCDS8494.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.937|5.937	0.356843|0.356843	0.11239|0.11239	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000299106;ENST00000441717|ENST00000529443	T|.	0.77489|.	-1.1|.	6.04|6.04	-2.32|-2.32	0.06745|0.06745	.|.	0.136815|.	0.52532|.	N|.	0.000066|.	T|.	0.15349|.	0.0370|.	N|N	0.05124|0.05124	-0.11|-0.11	0.33551|0.33551	D|D	0.59613|0.59613	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.29761|.	-1.0001|.	10|.	0.37606|.	T|.	0.19|.	.|.	1.5903|1.5903	0.02653|0.02653	0.405:0.0844:0.1838:0.3268|0.405:0.0844:0.1838:0.3268	.|.	247;298|.	B3KWG9;Q9BX67|.	.;JAM3_HUMAN|.	D|X	343;247|252	ENSP00000395742:E247D|.	ENSP00000299106:E343D|.	E|G	+|+	3|1	2|0	JAM3|JAM3	133523920|133523920	0.991000|0.991000	0.36638|0.36638	0.883000|0.883000	0.34634|0.34634	0.170000|0.170000	0.22686|0.22686	0.159000|0.159000	0.16442|0.16442	-0.388000|-0.388000	0.07797|0.07797	-0.253000|-0.253000	0.11424|0.11424	GAG|GGA		0.463	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		5	53	1	0	0.184627	1	0.186383	5	53				
ABCA3	21	broad.mit.edu	37	16	2367363	2367363	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2367363G>T	ENST00000301732.5	-	10	1732	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	ABCA3_ENST00000382381.3_Silent_p.S344S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	344					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGAGCACCAGGGAGGGGTCGC	0.622																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1030-1032)tcC>tcA		ATP-binding cassette, sub-family A (ABC1), member 3							124.0	107.0	113.0					16																	2367363		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2367363G>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1032C>A	16.37:g.2367363G>T						ABCA3_ENST00000382381.3_Silent_p.S344S	p.S344S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			10	1732	-		Ovarian(90;0.17)	344					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.1032C>A	CCDS10466.1																																																																																				0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		14	98	1	0	4.36969e-10	1	5.35656e-10	14	98				
ITGA5	3678	broad.mit.edu	37	12	54795851	54795851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54795851G>T	ENST00000293379.4	-	21	2421	c.2160C>A	c.(2158-2160)taC>taA	p.Y720*	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	720					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCACGGCAAAGTAGTCACAGC	0.572																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2158-2160)taC>taA		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							62.0	61.0	62.0					12																	54795851		2203	4300	6503	SO:0001587	stop_gained	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795851G>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2160C>A	12.37:g.54795851G>T	ENSP00000293379:p.Tyr720*					RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.Y720*	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			21	2421	-			720					Q96HA5	Nonsense_Mutation	SNP	ENST00000293379.4	37	c.2160C>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	40	8.466503	0.98825	.	.	ENSG00000161638	ENST00000293379	.	.	.	5.18	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6543	0.51309	0.087:0.0:0.9129:0.0	.	.	.	.	X	720	.	ENSP00000293379:Y720X	Y	-	3	2	ITGA5	53082118	0.978000	0.34361	0.994000	0.49952	0.994000	0.84299	1.109000	0.31135	1.336000	0.45506	0.561000	0.74099	TAC		0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			6	61	1	0	3.59834e-05	1	4.01776e-05	6	61				
TMPPE	643853	broad.mit.edu	37	3	33134502	33134502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33134502G>A	ENST00000342462.4	-	2	1376	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Nonsense_Mutation_p.Q259*	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	396						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGAAGATCTGCCCAGCATGT	0.552																																						ENST00000342462.4																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(1186-1188)Cag>Tag		transmembrane protein with metallophosphoesterase domain							119.0	111.0	114.0					3																	33134502		2203	4300	6503	SO:0001587	stop_gained	643853					integral to membrane	metal ion binding	g.chr3:33134502G>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1186C>T	3.37:g.33134502G>A	ENSP00000343398:p.Gln396*					GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Nonsense_Mutation_p.Q259*|GLB1_ENST00000307363.5_Intron	p.Q396*	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN			2	1376	-			396					B2RNG5|Q6ZRG1	Nonsense_Mutation	SNP	ENST00000342462.4	37	c.1186C>T	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	G	38	7.101874	0.98063	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.2851	18.4013	0.90518	0.0:0.0:1.0:0.0	.	.	.	.	X	259;396	.	ENSP00000343398:Q396X	Q	-	1	0	TMPPE	33109506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.871000	0.98454	0.655000	0.94253	CAG		0.552	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		7	42	0	0	0	1	0	7	42				
PDCL2	132954	broad.mit.edu	37	4	56428578	56428578	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56428578C>T	ENST00000295645.4	-	5	666	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	188	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TACCTTCCAGCTTGAGATTTA	0.323																																						ENST00000295645.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(562-564)aaG>aaA		phosducin-like 2							63.0	62.0	62.0					4																	56428578		1816	4079	5895	SO:0001819	synonymous_variant	132954							g.chr4:56428578C>T	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.564G>A	4.37:g.56428578C>T							p.K188K	NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		5	666	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		188					A8MWA2|B9ZVQ9	Silent	SNP	ENST00000295645.4	37	c.564G>A	CCDS47059.1																																																																																				0.323	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		14	27	0	0	0	1	0	14	27				
GRAMD1C	54762	broad.mit.edu	37	3	113652376	113652376	+	Missense_Mutation	SNP	C	C	T	rs564143150		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113652376C>T	ENST00000358160.4	+	12	1720	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R139W|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R205W|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R243W	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	410						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TAAAGAAAGTCGGGAAGCACG	0.338																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(1228-1230)Cgg>Tgg		GRAM domain containing 1C							132.0	128.0	130.0					3																	113652376		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113652376C>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1228C>T	3.37:g.113652376C>T	ENSP00000350881:p.Arg410Trp					GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R205W|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R139W|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R243W|GRAMD1C_ENST00000479212.1_3'UTR	p.R410W	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			12	1720	+			410					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.1228C>T	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771252	0.49680	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T	0.48836	1.4;0.8;0.83;0.82	5.8	4.93	0.64822	.	0.410391	0.27349	N	0.019762	T	0.43255	0.1239	L	0.49350	1.555	0.34215	D	0.674769	B;B	0.24483	0.104;0.009	B;B	0.22753	0.041;0.005	T	0.53697	-0.8402	10	0.37606	T	0.19	.	13.8413	0.63441	0.0:0.9256:0.0:0.0743	.	243;410	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	W	410;139;243;205;205	ENSP00000350881:R410W;ENSP00000399844:R139W;ENSP00000419132:R243W;ENSP00000408135:R205W	ENSP00000350881:R410W	R	+	1	2	GRAMD1C	115135066	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	2.855000	0.48333	1.455000	0.47813	0.650000	0.86243	CGG		0.338	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		7	106	0	0	0	1	0	7	106				
PCDHA2	56146	broad.mit.edu	37	5	140175795	140175795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140175795G>A	ENST00000526136.1	+	1	1246	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E416K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E416K|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	416	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.627																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1246-1248)Gag>Aag									140.0	127.0	131.0					5																	140175795		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175795G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1246G>A	5.37:g.140175795G>A	ENSP00000431748:p.Glu416Lys					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E416K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E416K	p.E416K	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1246	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1246G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.191823	0.78902	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.72394	-0.65;-0.65;-0.65	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.000000	0.40064	U	0.001199	D	0.91405	0.7288	H	0.99650	4.68	0.46376	D	0.999014	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95642	0.8699	10	0.87932	D	0	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	416;416;416	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	416	ENSP00000430584:E416K;ENSP00000367372:E416K;ENSP00000431748:E416K	ENSP00000367372:E416K	E	+	1	0	PCDHA2	140155979	1.000000	0.71417	0.956000	0.39512	0.611000	0.37282	7.598000	0.82745	1.920000	0.55613	0.650000	0.86243	GAG		0.627	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		46	76	0	0	0	1	0	46	76				
C6orf222	389384	broad.mit.edu	37	6	36298234	36298234	+	Silent	SNP	G	G	A	rs138487840	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36298234G>A	ENST00000437635.2	-	2	411	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	78										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CGGTCTCCTCGGGAGTGGGGG	0.612													G|||	3	0.000599042	0.0	0.0	5008	,	,		16307	0.003		0.0	False		,,,				2504	0.0					ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(232-234)ccC>ccT		chromosome 6 open reading frame 222							46.0	50.0	49.0					6																	36298234		2203	4300	6503	SO:0001819	synonymous_variant	389384							g.chr6:36298234G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.234C>T	6.37:g.36298234G>A							p.P78P	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	411	-			78					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.234C>T	CCDS34439.1																																																																																				0.612	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		31	54	0	0	0	1	0	31	54				
KALRN	8997	broad.mit.edu	37	3	124017690	124017690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124017690A>G	ENST00000240874.3	+	6	1173	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G	KALRN_ENST00000360013.3_Missense_Mutation_p.E339G|KALRN_ENST00000460856.1_Missense_Mutation_p.E339G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	339					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCACACGGAGATCGGAGTC	0.522																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1015-1017)gAg>gGg		kalirin, RhoGEF kinase							216.0	196.0	203.0					3																	124017690		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124017690A>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1016A>G	3.37:g.124017690A>G	ENSP00000240874:p.Glu339Gly					KALRN_ENST00000460856.1_Missense_Mutation_p.E339G|KALRN_ENST00000240874.3_Missense_Mutation_p.E339G	p.E339G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			6	1143	+			339					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1016A>G	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.214664|5.214664	0.95104|0.95104	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.37058|.	1.22;1.22;1.22|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.133656|.	0.49305|.	D|.	0.000157|.	T|T	0.60534|0.60534	0.2276|0.2276	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	P;P;P|.	0.41848|.	0.763;0.762;0.721|.	P;P;P|.	0.49421|.	0.61;0.478;0.476|.	T|T	0.56842|0.56842	-0.7912|-0.7912	10|5	0.36615|.	T|.	0.2|.	.|.	15.8615|15.8615	0.79026|0.79026	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	339;339;339|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	G|G	339|317	ENSP00000418611:E339G;ENSP00000240874:E339G;ENSP00000353109:E339G|.	ENSP00000240874:E339G|.	E|R	+|+	2|1	0|2	KALRN|KALRN	125500380|125500380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.087000|9.087000	0.94110|0.94110	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.522	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		15	123	0	0	0	1	0	15	123				
LGR5	8549	broad.mit.edu	37	12	71978482	71978482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71978482C>A	ENST00000266674.5	+	18	3003	c.2692C>A	c.(2692-2694)Ctt>Att	p.L898I	LGR5_ENST00000540815.2_Missense_Mutation_p.L874I|LGR5_ENST00000536515.1_Missense_Mutation_p.L826I|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	898					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GAGCTGCCATCTTTCCTCTGT	0.443																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2692-2694)Ctt>Att		leucine-rich repeat containing G protein-coupled receptor 5							121.0	114.0	117.0					12																	71978482		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978482C>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2692C>A	12.37:g.71978482C>A	ENSP00000266674:p.Leu898Ile					LGR5_ENST00000540815.2_Missense_Mutation_p.L874I|LGR5_ENST00000536515.1_Missense_Mutation_p.L826I	p.L898I			O75473	LGR5_HUMAN			18	3003	+			898					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2692C>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048113	0.36085	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.58358	0.4;0.34;0.47	5.97	5.97	0.96955	.	0.107097	0.41938	D	0.000784	T	0.45617	0.1351	L	0.41027	1.25	0.32042	N	0.59807	B;B	0.19073	0.033;0.019	B;B	0.19946	0.027;0.012	T	0.45977	-0.9224	10	0.19590	T	0.45	.	16.6923	0.85325	0.13:0.87:0.0:0.0	.	874;898	O75473-2;O75473	.;LGR5_HUMAN	I	898;826;874	ENSP00000266674:L898I;ENSP00000443033:L826I;ENSP00000441035:L874I	ENSP00000266674:L898I	L	+	1	0	LGR5	70264749	0.891000	0.30450	0.830000	0.32933	0.667000	0.39255	2.898000	0.48672	2.833000	0.97629	0.585000	0.79938	CTT		0.443	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		33	91	1	0	1.47197e-15	1	1.88984e-15	33	91				
NUP210	23225	broad.mit.edu	37	3	13407522	13407522	+	Missense_Mutation	SNP	G	G	A	rs557174949		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13407522G>A	ENST00000254508.5	-	14	1938	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	619					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACAAGAAGCGTGGTAGAGCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		16754	0.0		0.0	False		,,,				2504	0.001					ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1855-1857)aCg>aTg		nucleoporin 210kDa							110.0	100.0	103.0					3																	13407522		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13407522G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1856C>T	3.37:g.13407522G>A	ENSP00000254508:p.Thr619Met						p.T619M	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			14	1938	-	all_neural(104;0.187)		619					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.1856C>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660865	0.14645	.	.	ENSG00000132182	ENST00000254508	T	0.05447	3.44	5.21	4.34	0.51931	.	0.428435	0.27951	N	0.017181	T	0.10809	0.0264	M	0.73598	2.24	0.09310	N	0.999997	P;P	0.52316	0.938;0.952	P;B	0.46076	0.503;0.306	T	0.18903	-1.0322	10	0.39692	T	0.17	.	6.7842	0.23664	0.0725:0.126:0.6715:0.13	.	619;619	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	M	619	ENSP00000254508:T619M	ENSP00000254508:T619M	T	-	2	0	NUP210	13382522	0.062000	0.20869	0.003000	0.11579	0.068000	0.16541	2.468000	0.45102	1.178000	0.42870	0.655000	0.94253	ACG		0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		4	52	0	0	0	1	0	4	52				
AFF2	2334	broad.mit.edu	37	X	148037455	148037455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037455G>A	ENST00000370460.2	+	11	2359	c.1880G>A	c.(1879-1881)gGg>gAg	p.G627E	AFF2_ENST00000286437.5_Missense_Mutation_p.G268E|AFF2_ENST00000342251.3_Missense_Mutation_p.G594E|AFF2_ENST00000370457.5_Missense_Mutation_p.G594E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	627					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAATTGGGAAAAAACAG	0.438																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1879-1881)gGg>gAg		AF4/FMR2 family, member 2							90.0	96.0	94.0					X																	148037455		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037455G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1880G>A	X.37:g.148037455G>A	ENSP00000359489:p.Gly627Glu					AFF2_ENST00000342251.3_Missense_Mutation_p.G594E|AFF2_ENST00000286437.5_Missense_Mutation_p.G268E|AFF2_ENST00000370457.5_Missense_Mutation_p.G594E	p.G627E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2359	+	Acute lymphoblastic leukemia(192;6.56e-05)		627					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1880G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555602	0.65425	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.5	4.6	0.57074	.	0.120251	0.53938	D	0.000043	D	0.82921	0.5142	M	0.83118	2.625	0.48087	D	0.999581	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.75484	0.986;0.976;0.976;0.976;0.976;0.986	D	0.83917	0.0299	10	0.51188	T	0.08	.	10.55	0.45083	0.0:0.1396:0.7126:0.1478	.	268;592;594;588;617;627	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	E	627;594;594;268	ENSP00000359489:G627E;ENSP00000359486:G594E;ENSP00000345459:G594E;ENSP00000286437:G268E	ENSP00000286437:G268E	G	+	2	0	AFF2	147845155	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	5.499000	0.66937	2.295000	0.77249	0.556000	0.70494	GGG		0.438	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		7	145	0	0	0	1	0	7	145				
BRINP1	1620	broad.mit.edu	37	9	121930124	121930124	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:121930124G>A	ENST00000265922.3	-	8	1985	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	508					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGCGGATCTCGTTGCTGATGA	0.552																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1522-1524)aaC>aaT									267.0	188.0	215.0					9																	121930124		2203	4300	6503	SO:0001819	synonymous_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930124G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1524C>T	9.37:g.121930124G>A						DBC1_ENST00000482797.1_Intron	p.N508N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1985	-			508					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1524C>T	CCDS6822.1																																																																																				0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		17	23	0	0	0	1	0	17	23				
EPG5	57724	broad.mit.edu	37	18	43523147	43523147	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43523147C>G	ENST00000282041.5	-	9	1957	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	641					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AACCAATTCGCTTCACAAACT	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1921-1923)aaG>aaC		ectopic P-granules autophagy protein 5 homolog (C. elegans)							161.0	157.0	158.0					18																	43523147		1903	4113	6016	SO:0001583	missense	57724				autophagy			g.chr18:43523147C>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1923G>C	18.37:g.43523147C>G	ENSP00000282041:p.Lys641Asn						p.K641N	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			9	1957	-			641					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1923G>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564862	0.65651	.	.	ENSG00000152223	ENST00000282041	T	0.27256	1.68	5.53	2.67	0.31697	.	0.160961	0.53938	D	0.000041	T	0.42988	0.1227	M	0.61703	1.905	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.26360	-1.0105	10	0.87932	D	0	-19.7657	7.7275	0.28767	0.0:0.558:0.0:0.442	.	641;641	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	N	641	ENSP00000282041:K641N	ENSP00000282041:K641N	K	-	3	2	EPG5	41777145	0.987000	0.35691	1.000000	0.80357	0.984000	0.73092	0.214000	0.17541	0.650000	0.30769	0.455000	0.32223	AAG		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		22	59	0	0	0	1	0	22	59				
PLG	5340	broad.mit.edu	37	6	161160111	161160111	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161160111C>A	ENST00000308192.9	+	16	1952	c.1889C>A	c.(1888-1890)cCt>cAt	p.P630H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	630	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAAGGCCTTCATCCTAC	0.502																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1888-1890)cCt>cAt		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						167.0	155.0	159.0					6																	161160111		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161160111C>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1889C>A	6.37:g.161160111C>A	ENSP00000308938:p.Pro630His						p.P630H	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	16	1952	+			630			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1889C>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	16.20	3.056098	0.55325	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.89050	-2.46	5.23	4.37	0.52481	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.190153	0.25363	U	0.031214	D	0.93006	0.7774	M	0.86097	2.795	0.36671	D	0.878495	D	0.89917	1.0	D	0.85130	0.997	D	0.94026	0.7297	10	0.72032	D	0.01	.	11.8106	0.52181	0.0:0.9172:0.0:0.0828	.	630	P00747	PLMN_HUMAN	H	630;30	ENSP00000308938:P630H	ENSP00000308938:P630H	P	+	2	0	PLG	161080101	0.862000	0.29867	0.000000	0.03702	0.010000	0.07245	4.274000	0.58921	1.207000	0.43291	0.655000	0.94253	CCT		0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		10	80	1	0	0.00621372	1	0.00652201	10	80				
RYR3	6263	broad.mit.edu	37	15	34130920	34130920	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130920A>G	ENST00000389232.4	+	89	12809	c.12739A>G	c.(12739-12741)Act>Gct	p.T4247A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4242A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4247					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGATGACACTATGGAGGC	0.502																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12739-12741)Act>Gct		ryanodine receptor 3							55.0	57.0	56.0					15																	34130920		2019	4187	6206	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130920A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12739A>G	15.37:g.34130920A>G	ENSP00000373884:p.Thr4247Ala					RYR3_ENST00000415757.3_Missense_Mutation_p.T4242A	p.T4247A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12809	+		all_lung(180;7.18e-09)	4247					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12739A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	1.792	-0.479230	0.04383	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92965	-3.14	5.44	3.55	0.40652	Ryanodine Receptor TM 4-6 (1);	0.678460	0.14079	N	0.342849	T	0.78898	0.4356	N	0.03608	-0.345	0.21697	N	0.999586	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62091	-0.6927	10	0.08599	T	0.76	.	10.7282	0.46081	0.1564:0.0:0.8436:0.0	.	4242;4247	Q15413-2;Q15413	.;RYR3_HUMAN	A	4247;4243	ENSP00000373884:T4247A	ENSP00000354735:T4243A	T	+	1	0	RYR3	31918212	1.000000	0.71417	0.934000	0.37439	0.738000	0.42128	2.939000	0.48995	1.267000	0.44247	-0.242000	0.12053	ACT		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			18	18	0	0	0	1	0	18	18				
ATP10D	57205	broad.mit.edu	37	4	47537530	47537530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47537530C>T	ENST00000273859.3	+	6	1050	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.H261Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	261					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTATAGAGAACATTCCAACAA	0.373																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(781-783)Cat>Tat		ATPase, class V, type 10D							121.0	112.0	115.0					4																	47537530		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47537530C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.781C>T	4.37:g.47537530C>T	ENSP00000273859:p.His261Tyr					ATP10D_ENST00000504445.1_Missense_Mutation_p.H261Y	p.H261Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			6	1050	+			261					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.781C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945393	0.53079	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.74421	-0.84;-0.84	5.74	5.74	0.90152	ATPase, P-type, ATPase-associated domain (1);	0.057821	0.64402	D	0.000002	T	0.64821	0.2633	N	0.17922	0.545	0.38782	D	0.954788	B;B	0.29909	0.261;0.218	B;B	0.39152	0.292;0.14	T	0.61307	-0.7089	10	0.12430	T	0.62	-19.4547	15.3781	0.74630	0.1396:0.8604:0.0:0.0	.	261;261	Q9P241;Q6PEW3	AT10D_HUMAN;.	Y	261	ENSP00000273859:H261Y;ENSP00000420909:H261Y	ENSP00000273859:H261Y	H	+	1	0	ATP10D	47232287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.344000	0.44010	2.703000	0.92315	0.655000	0.94253	CAT		0.373	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		23	44	0	0	0	1	0	23	44				
FYCO1	79443	broad.mit.edu	37	3	45965194	45965194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45965194G>A	ENST00000296137.2	-	17	4520	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	FYCO1_ENST00000438446.1_Missense_Mutation_p.R110C|FYCO1_ENST00000535325.1_Missense_Mutation_p.R1459C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1439	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCGGGTGTGCGAACCTTGAGC	0.557																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(4315-4317)Cgc>Tgc		FYVE and coiled-coil domain containing 1							234.0	198.0	210.0					3																	45965194		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:45965194G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.4315C>T	3.37:g.45965194G>A	ENSP00000296137:p.Arg1439Cys					FYCO1_ENST00000535325.1_Missense_Mutation_p.R1459C|FYCO1_ENST00000438446.1_Missense_Mutation_p.R110C	p.R1439C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	17	4520	-			1439			GOLD.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.4315C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422998	0.62733	.	.	ENSG00000163820	ENST00000296137;ENST00000438446;ENST00000535325	T;T;T	0.47528	0.84;0.84;0.84	5.26	3.26	0.37387	GOLD (2);	0.064498	0.64402	D	0.000012	T	0.61999	0.2392	L	0.56769	1.78	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.65134	-0.6242	10	0.87932	D	0	-12.6636	11.9072	0.52719	0.0:0.0:0.7032:0.2968	.	1459;1439	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	C	1439;110;1459	ENSP00000296137:R1439C;ENSP00000398517:R110C;ENSP00000441178:R1459C	ENSP00000296137:R1439C	R	-	1	0	FYCO1	45940198	0.998000	0.40836	0.964000	0.40570	0.451000	0.32288	2.611000	0.46334	2.472000	0.83506	0.561000	0.74099	CGC		0.557	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		27	42	0	0	0	1	0	27	42				
MKI67	4288	broad.mit.edu	37	10	129904331	129904331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129904331C>T	ENST00000368654.3	-	13	6148	c.5773G>A	c.(5773-5775)Gtg>Atg	p.V1925M	MKI67_ENST00000368653.3_Missense_Mutation_p.V1565M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1925	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCTCCACTGGAGTCCCC	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5773-5775)Gtg>Atg		marker of proliferation Ki-67							203.0	203.0	203.0					10																	129904331		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904331C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5773G>A	10.37:g.129904331C>T	ENSP00000357643:p.Val1925Met					MKI67_ENST00000368653.3_Missense_Mutation_p.V1565M	p.V1925M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6148	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1925			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5773G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304731	0.23736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02258	4.37;4.37	3.66	-7.31	0.01441	.	3.661520	0.01298	U	0.010219	T	0.03739	0.0106	L	0.44542	1.39	0.09310	N	1	D;P;B	0.56521	0.976;0.911;0.295	P;P;B	0.49953	0.534;0.627;0.266	T	0.23904	-1.0175	10	0.48119	T	0.1	.	6.7363	0.23411	0.0:0.4139:0.2538:0.3322	.	1924;1565;1925	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1925;1565;1924	ENSP00000357643:V1925M;ENSP00000357642:V1565M	ENSP00000357642:V1565M	V	-	1	0	MKI67	129794321	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.052000	0.00627	-2.233000	0.00716	-1.261000	0.01458	GTG		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		77	138	0	0	0	1	0	77	138				
ACSBG1	23205	broad.mit.edu	37	15	78526740	78526740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78526740C>A	ENST00000258873.4	-	1	309	c.104G>T	c.(103-105)aGg>aTg	p.R35M	ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_De_novo_Start_OutOfFrame	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	35					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTGGGTGGTCCTCACAATCAT	0.552																																						ENST00000541759.1																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37								acyl-CoA synthetase bubblegum family member 1							215.0	224.0	221.0					15																	78526740		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78526740C>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.104G>T	15.37:g.78526740C>A	ENSP00000258873:p.Arg35Met					ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000258873.4_Missense_Mutation_p.R35M				Q96GR2	ACBG1_HUMAN			0	127	-								B2RB61|O75126|Q76N27|Q9HC26	Translation_Start_Site	SNP	ENST00000258873.4	37		CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290944	0.23564	.	.	ENSG00000103740	ENST00000258873	T	0.28895	1.59	4.36	1.07	0.20283	.	0.544851	0.15471	N	0.260598	T	0.11537	0.0281	N	0.08118	0	0.19300	N	0.999976	B;B	0.30664	0.289;0.289	B;B	0.22753	0.041;0.041	T	0.14615	-1.0466	10	0.48119	T	0.1	-9.1891	2.7082	0.05167	0.1875:0.5245:0.1824:0.1057	.	35;35	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	M	35	ENSP00000258873:R35M	ENSP00000258873:R35M	R	-	2	0	ACSBG1	76313795	0.039000	0.19947	0.054000	0.19295	0.054000	0.15201	0.128000	0.15810	0.369000	0.24510	-0.379000	0.06801	AGG		0.552	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		24	258	1	0	1.66031e-10	1	2.04717e-10	24	258				
ANGPT1	284	broad.mit.edu	37	8	108296915	108296915	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296915G>T	ENST00000520734.1	-	6	885	c.600C>A	c.(598-600)aaC>aaA	p.N200K	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.N199K			Q15389	ANGP1_HUMAN	angiopoietin 1	400					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTACCTATAGTTTTGCTTTT	0.378																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(598-600)aaC>aaA		angiopoietin 1							148.0	123.0	132.0					8																	108296915		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108296915G>T	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.600C>A	8.37:g.108296915G>T	ENSP00000430750:p.Asn200Lys					ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.N199K	p.N200K			Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		6	885	-	Breast(1;5.06e-08)		400					Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.600C>A		.	.	.	.	.	.	.	.	.	.	G	5.142	0.211761	0.09757	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.73	4.74	0.60224	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.039604	0.85682	D	0.000000	T	0.50514	0.1620	N	0.04959	-0.14	0.52099	D	0.999945	B;B;B	0.29301	0.006;0.241;0.241	B;B;B	0.31812	0.012;0.136;0.136	T	0.49380	-0.8946	10	0.27082	T	0.32	.	6.8963	0.24257	0.1962:0.0:0.8038:0.0	.	199;400;400	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	K	400;399;200;199	ENSP00000428340:N400K;ENSP00000297450:N399K;ENSP00000430750:N200K;ENSP00000429349:N199K	ENSP00000297450:N399K	N	-	3	2	ANGPT1	108366091	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.625000	0.37029	2.709000	0.92574	0.650000	0.86243	AAC		0.378	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		25	39	1	0	9.86323e-18	1	1.2813e-17	25	39				
PSAPL1	768239	broad.mit.edu	37	4	7436108	7436108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7436108C>T	ENST00000319098.4	-	1	592	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	167					sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				lung(4)	4						GGCCCATTGGCCATGAACGGA	0.647																																						ENST00000319098.4																			0				lung(4)	4						c.(499-501)Gcc>Acc		prosaposin-like 1 (gene/pseudogene)							11.0	13.0	12.0					4																	7436108		1991	4151	6142	SO:0001583	missense	0				sphingolipid metabolic process	extracellular region|lysosome		g.chr4:7436108C>T	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.499G>A	4.37:g.7436108C>T	ENSP00000317445:p.Ala167Thr					SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	p.A167T	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN			1	592	-			167					A0A184|Q8N7T4	Missense_Mutation	SNP	ENST00000319098.4	37	c.499G>A	CCDS47009.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360354	0.24598	.	.	ENSG00000178597	ENST00000319098	T	0.68479	-0.33	3.47	0.443	0.16587	.	.	.	.	.	T	0.48892	0.1525	L	0.39898	1.24	0.09310	N	1	B	0.20550	0.046	B	0.14578	0.011	T	0.30851	-0.9964	9	0.30078	T	0.28	.	1.8177	0.03104	0.2171:0.4649:0.1938:0.1243	.	167	Q6NUJ1	SAPL1_HUMAN	T	167	ENSP00000317445:A167T	ENSP00000317445:A167T	A	-	1	0	PSAPL1	7487009	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.106000	0.10890	-0.052000	0.13311	-0.305000	0.09177	GCC		0.647	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			5	6	0	0	0	1	0	5	6				
XKR3	150165	broad.mit.edu	37	22	17280789	17280789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17280789C>A	ENST00000331428.5	-	3	563	c.461G>T	c.(460-462)cGg>cTg	p.R154L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAATTATCCCGGATTGAGAA	0.398																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(460-462)cGg>cTg		XK, Kell blood group complex subunit-related family, member 3							227.0	213.0	217.0					22																	17280789		1916	4128	6044	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17280789C>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.461G>T	22.37:g.17280789C>A	ENSP00000331704:p.Arg154Leu						p.R154L	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			3	563	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	154					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.461G>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	6.786	0.513984	0.12944	.	.	ENSG00000172967	ENST00000331428	T	0.65178	-0.14	0.762	-1.52	0.08637	.	0.231894	0.34603	U	0.003837	T	0.40619	0.1124	L	0.47190	1.495	0.09310	N	1	P	0.41265	0.744	B	0.34489	0.184	T	0.39292	-0.9621	10	0.23302	T	0.38	.	3.4115	0.07360	0.0:0.5043:0.2663:0.2293	.	154	Q5GH77	XKR3_HUMAN	L	154	ENSP00000331704:R154L	ENSP00000331704:R154L	R	-	2	0	XKR3	15660789	0.081000	0.21417	0.000000	0.03702	0.013000	0.08279	0.391000	0.20784	-0.849000	0.04158	0.289000	0.19496	CGG		0.398	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		24	165	1	0	4.87955e-14	1	6.21198e-14	24	165				
EME2	197342	broad.mit.edu	37	16	1826144	1826144	+	Missense_Mutation	SNP	G	G	A	rs556430480		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1826144G>A	ENST00000568449.1	+	8	1066	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Missense_Mutation_p.G414R|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	349					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGTGAAGGCGGGCGTCCCCG	0.687								Direct reversal of damage;Homologous recombination					G|||	1	0.000199681	0.0	0.0	5008	,	,		12663	0.001		0.0	False		,,,				2504	0.0					ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(1240-1242)Ggg>Agg	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							46.0	44.0	45.0					16																	1826144		2189	4276	6465	SO:0001583	missense	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1826144G>A	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.1045G>A	16.37:g.1826144G>A	ENSP00000457353:p.Gly349Arg					EME2_ENST00000568449.1_Missense_Mutation_p.G349R	p.G414R			A4GXA9	EME2_HUMAN			8	1240	+			353					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.1240G>A	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560264	0.27827	.	.	ENSG00000197774	ENST00000307394	.	.	.	3.4	-6.77	0.01727	.	3.072470	0.01259	N	0.009122	T	0.29524	0.0736	L	0.48642	1.525	0.09310	N	1	B	0.21821	0.061	B	0.16289	0.015	T	0.10567	-1.0624	9	0.14656	T	0.56	0.0023	5.722	0.17992	0.4292:0.312:0.2587:0.0	.	215	A4GXA9-2	.	R	414	.	ENSP00000303779:G414R	G	+	1	0	EME2	1766145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.166000	0.16583	-1.091000	0.03065	-1.080000	0.02220	GGG		0.687	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		4	67	0	0	0	1	0	4	67				
ATP2A2	488	broad.mit.edu	37	12	110783173	110783173	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110783173T>C	ENST00000539276.2	+	18	2836	c.2727T>C	c.(2725-2727)tgT>tgC	p.C909C	ATP2A2_ENST00000395494.2_Silent_p.C882C|ATP2A2_ENST00000308664.6_Silent_p.C909C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	909					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAGAAATGTGTAACGCCCTCA	0.517																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38	GRCh37	CM043969	ATP2A2	M		c.(2644-2646)tgT>tgC		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							131.0	116.0	121.0					12																	110783173		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783173T>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2727T>C	12.37:g.110783173T>C						ATP2A2_ENST00000539276.2_Silent_p.C909C|ATP2A2_ENST00000308664.6_Silent_p.C909C	p.C882C			P16615	AT2A2_HUMAN			17	3209	+			909					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.2646T>C	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544492	0.27563	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.49	-5.36	0.02689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9933	0.86359	0.0:0.6007:0.0:0.3993	.	.	.	.	Q	800	.	.	X	+	1	0	ATP2A2	109267556	1.000000	0.71417	0.641000	0.29422	0.960000	0.62799	0.760000	0.26475	-0.900000	0.03896	0.533000	0.62120	TAA		0.517	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		9	92	0	0	0	1	0	9	92				
SLC9A5	6553	broad.mit.edu	37	16	67292254	67292254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67292254G>A	ENST00000299798.11	+	10	1595	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	510					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCTGAGTCAGCTGCTGATGC	0.587																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1528-1530)caG>caA		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							58.0	64.0	62.0					16																	67292254		2059	4210	6269	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67292254G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1530G>A	16.37:g.67292254G>A							p.Q510Q	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	10	1595	+		Ovarian(137;0.0563)	510					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.1530G>A	CCDS42178.1																																																																																				0.587	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			17	33	0	0	0	1	0	17	33				
RNF24	11237	broad.mit.edu	37	20	3925866	3925866	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3925866C>A	ENST00000336095.6	-	4	438		c.e4-1		RNF24_ENST00000545616.2_Splice_Site|RNF24_ENST00000358395.6_Splice_Site|RNF24_ENST00000432261.2_Splice_Site	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTAATATAACCTGTAAGACAA	0.274																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.e4-1		ring finger protein 24							77.0	77.0	77.0					20																	3925866		2203	4296	6499	SO:0001630	splice_region_variant	0					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3925866C>A	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.187-1G>T	20.37:g.3925866C>A						RNF24_ENST00000432261.2_Splice_Site|RNF24_ENST00000358395.6_Splice_Site|RNF24_ENST00000545616.1_Splice_Site		NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			4	438	-								D3DVZ2|D3DVZ3|Q9UMH1	Splice_Site	SNP	ENST00000336095.6	37		CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486513	0.63962	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0094	0.64486	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF24	3873866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.258000	0.58822	2.577000	0.86979	0.485000	0.47835	.		0.274	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2		Intron	24	31	1	0	2.70639e-06	1	3.11222e-06	24	31				
IGSF11	152404	broad.mit.edu	37	3	118624442	118624442	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118624442C>T	ENST00000393775.2	-	5	1009		c.e5+1		IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000491903.1_Splice_Site|IGSF11_ENST00000354673.2_Splice_Site|IGSF11_ENST00000425327.2_Splice_Site	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11						cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATATGCTTACGTGAAATAAC	0.428																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.e7+1		immunoglobulin superfamily, member 11							131.0	134.0	133.0					3																	118624442		2203	4300	6503	SO:0001630	splice_region_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118624442C>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.703+1G>A	3.37:g.118624442C>T						IGSF11_ENST00000491903.1_Splice_Site|IGSF11_ENST00000425327.2_Splice_Site|IGSF11_ENST00000393775.2_Splice_Site|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000489689.1_Intron		NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			7	1081	-								C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Splice_Site	SNP	ENST00000393775.2	37		CCDS46891.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667359	0.88348	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000354673;ENST00000491903	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0599	0.89373	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF11	120107132	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.089000	0.76909	2.821000	0.97095	0.655000	0.94253	.		0.428	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2		Intron	15	94	0	0	0	1	0	15	94				
ELOVL3	83401	broad.mit.edu	37	10	103987505	103987505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103987505C>T	ENST00000370005.3	+	2	445	c.224C>T	c.(223-225)gCa>gTa	p.A75V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	75					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TTCTGCCTTGCAATCTTCAGG	0.522																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(223-225)gCa>gTa		ELOVL fatty acid elongase 3							237.0	202.0	214.0					10																	103987505		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103987505C>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.224C>T	10.37:g.103987505C>T	ENSP00000359022:p.Ala75Val						p.A75V	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	2	445	+		Colorectal(252;0.207)	75					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.224C>T	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874165	0.72180	.	.	ENSG00000119915	ENST00000370005	T	0.21734	1.99	4.51	4.51	0.55191	.	0.000000	0.56097	D	0.000029	T	0.21022	0.0506	L	0.53249	1.67	0.80722	D	1	P	0.37398	0.593	B	0.34824	0.19	T	0.04635	-1.0937	10	0.20046	T	0.44	-24.5951	16.1522	0.81629	0.0:1.0:0.0:0.0	.	75	Q9HB03	ELOV3_HUMAN	V	75	ENSP00000359022:A75V	ENSP00000359022:A75V	A	+	2	0	ELOVL3	103977495	1.000000	0.71417	0.769000	0.31535	0.267000	0.26476	6.970000	0.76099	2.188000	0.69820	0.563000	0.77884	GCA		0.522	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		36	49	0	0	0	1	0	36	49				
B3GALTL	145173	broad.mit.edu	37	13	31797128	31797128	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31797128G>T	ENST00000343307.4	+	3	309	c.160G>T	c.(160-162)Gac>Tac	p.D54Y		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	54					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAATGACATAGGTAAGTAATG	0.289																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.e3+1		beta 1,3-galactosyltransferase-like							113.0	109.0	110.0					13																	31797128		2202	4300	6502	SO:0001630	splice_region_variant	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31797128G>T	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.160+1G>T	13.37:g.31797128G>T							p.D54_splice	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	3	309	+		Lung SC(185;0.0257)	54					A8K5F8|Q5W0H2|Q6NUI3	Splice_Site	SNP	ENST00000343307.4	37	c.160_splice	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373445	0.42105	.	.	ENSG00000187676	ENST00000343307	T	0.74842	-0.88	5.66	4.82	0.62117	.	0.235559	0.42420	D	0.000708	T	0.69360	0.3102	L	0.38175	1.15	0.46954	D	0.999263	D	0.56521	0.976	P	0.47744	0.556	T	0.72890	-0.4155	10	0.87932	D	0	-15.6097	10.7014	0.45928	0.0876:0.0:0.9124:0.0	.	54	Q6Y288	B3GLT_HUMAN	Y	54	ENSP00000343002:D54Y	ENSP00000343002:D54Y	D	+	1	0	B3GALTL	30695128	1.000000	0.71417	0.997000	0.53966	0.293000	0.27360	3.238000	0.51352	1.535000	0.49220	0.655000	0.94253	GAC		0.289	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318	Missense_Mutation	9	28	1	0	2.17888e-05	1	2.45068e-05	9	28				
KLHL1	57626	broad.mit.edu	37	13	70314679	70314679	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70314679A>G	ENST00000377844.4	-	8	2408	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	KLHL1_ENST00000545028.1_Missense_Mutation_p.V357A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	550					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCTTCAAGTACTGTTACACC	0.368																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1648-1650)gTa>gCa		kelch-like family member 1							101.0	91.0	95.0					13																	70314679		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314679A>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1649T>C	13.37:g.70314679A>G	ENSP00000367075:p.Val550Ala					KLHL1_ENST00000545028.1_Missense_Mutation_p.V357A	p.V550A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2408	-		Breast(118;0.000162)	550					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1649T>C	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.844845	0.51164	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.81739	-1.53;-1.53	4.94	4.94	0.65067	Galactose oxidase, beta-propeller (1);	0.000000	0.51477	D	0.000086	T	0.79167	0.4400	L	0.33293	1	0.51767	D	0.999938	P;P	0.45569	0.629;0.861	B;P	0.50049	0.377;0.629	T	0.79962	-0.1582	10	0.45353	T	0.12	.	14.8879	0.70584	1.0:0.0:0.0:0.0	.	550;550	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	A	550;357	ENSP00000367075:V550A;ENSP00000439602:V357A	ENSP00000367075:V550A	V	-	2	0	KLHL1	69212680	1.000000	0.71417	0.848000	0.33437	0.915000	0.54546	9.191000	0.94940	1.989000	0.58080	0.482000	0.46254	GTA		0.368	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		22	31	0	0	0	1	0	22	31				
PIGC	5279	broad.mit.edu	37	1	172411395	172411395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172411395G>A	ENST00000367728.1	-	1	1831	c.368C>T	c.(367-369)gCc>gTc	p.A123V	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.A123V|PIGC_ENST00000258324.1_Missense_Mutation_p.A123V			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	123					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GAAGACTAGGGCACTCTTCAG	0.488																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(367-369)gCc>gTc		phosphatidylinositol glycan anchor biosynthesis, class C							42.0	45.0	44.0					1																	172411395		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411395G>A	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.368C>T	1.37:g.172411395G>A	ENSP00000356702:p.Ala123Val					PIGC_ENST00000258324.1_Missense_Mutation_p.A123V|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.A123V	p.A123V			Q92535	PIGC_HUMAN			1	1831	-			123					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.368C>T	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421472	0.42918	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.46063	0.88;0.88;0.88	4.92	4.92	0.64577	.	0.112726	0.64402	D	0.000014	T	0.25644	0.0624	L	0.46670	1.46	0.80722	D	1	B	0.25351	0.124	B	0.33121	0.158	T	0.09250	-1.0683	10	0.16420	T	0.52	-0.2888	16.7135	0.85392	0.0:0.0:1.0:0.0	.	123	Q92535	PIGC_HUMAN	V	123	ENSP00000356701:A123V;ENSP00000356702:A123V;ENSP00000258324:A123V	ENSP00000258324:A123V	A	-	2	0	PIGC	170678018	1.000000	0.71417	0.758000	0.31321	0.988000	0.76386	9.228000	0.95250	2.290000	0.77057	0.655000	0.94253	GCC		0.488	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		8	27	0	0	0	1	0	8	27				
ESRRG	2104	broad.mit.edu	37	1	216692559	216692559	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216692559T>C	ENST00000408911.3	-	6	1220	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ESRRG_ENST00000366937.1_Missense_Mutation_p.Y368C|ESRRG_ENST00000366940.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000463665.1_Missense_Mutation_p.Y294C|ESRRG_ENST00000493603.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000361395.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000391890.3_Missense_Mutation_p.Y340C|ESRRG_ENST00000359162.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000487276.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000360012.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000361525.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000366938.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000493748.1_Missense_Mutation_p.Y333C	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	356					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATGCTCTTGTATTTCTTTAC	0.378																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1018-1020)tAc>tGc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						118.0	110.0	112.0					1																	216692559		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216692559T>C	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1067A>G	1.37:g.216692559T>C	ENSP00000386171:p.Tyr356Cys					ESRRG_ENST00000366937.1_Missense_Mutation_p.Y368C|ESRRG_ENST00000493748.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000493603.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000360012.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000366940.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000366938.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000359162.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000487276.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000408911.3_Missense_Mutation_p.Y356C|ESRRG_ENST00000361525.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000463665.1_Missense_Mutation_p.Y294C|ESRRG_ENST00000361395.2_Missense_Mutation_p.Y333C	p.Y340C	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	8	1536	-			356					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.1019A>G	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756138	0.69648	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98118	0.9379	M	0.82630	2.6	0.80722	D	1	P;D;D	0.89917	0.813;1.0;1.0	P;D;D	0.72338	0.447;0.958;0.977	D	0.98897	1.0775	10	0.72032	D	0.01	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	294;368;356	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	C	333;333;368;356;333;333;333;333;333;340;294;333;333;333;333	ENSP00000355225:Y333C;ENSP00000355907:Y333C;ENSP00000355904:Y368C;ENSP00000386171:Y356C;ENSP00000352077:Y333C;ENSP00000354584:Y333C;ENSP00000355905:Y333C;ENSP00000353108:Y333C;ENSP00000419594:Y333C;ENSP00000375761:Y340C;ENSP00000418629:Y294C;ENSP00000419155:Y333C;ENSP00000417374:Y333C;ENSP00000419514:Y333C	ENSP00000346386:Y333C	Y	-	2	0	ESRRG	214759182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.324000	0.78689	0.533000	0.62120	TAC		0.378	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		24	48	0	0	0	1	0	24	48				
MRGPRX3	117195	broad.mit.edu	37	11	18158979	18158979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158979G>A	ENST00000396275.2	+	3	591	c.230G>A	c.(229-231)aGc>aAc	p.S77N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTTCCTTAGCGGCCACATT	0.547																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(229-231)aGc>aAc		MAS-related GPR, member X3							90.0	88.0	88.0					11																	18158979		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158979G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.230G>A	11.37:g.18158979G>A	ENSP00000379571:p.Ser77Asn						p.S77N	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	591	+			77					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.230G>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395937	0.25205	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.39592	1.07;1.07	1.3	-2.15	0.07102	GPCR, rhodopsin-like superfamily (1);	1.091480	0.06841	N	0.795778	T	0.48370	0.1496	M	0.79475	2.455	0.09310	N	1	P	0.45212	0.853	P	0.49451	0.611	T	0.44937	-0.9295	10	0.51188	T	0.08	.	3.4827	0.07609	0.0:0.2383:0.2855:0.4762	.	77	Q96LB0	MRGX3_HUMAN	N	77	ENSP00000379571:S77N;ENSP00000436242:S77N	ENSP00000379571:S77N	S	+	2	0	MRGPRX3	18115555	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.278000	0.18753	-0.536000	0.06298	0.195000	0.17529	AGC		0.547	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		8	77	0	0	0	1	0	8	77				
SEC16B	89866	broad.mit.edu	37	1	177911069	177911069	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177911069C>A	ENST00000308284.6	-	16	2077	c.1988G>T	c.(1987-1989)aGc>aTc	p.S663I	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	663					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGGTGACTGCTCTCTCCCTG	0.498																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1987-1989)aGc>aTc		SEC16 homolog B (S. cerevisiae)							100.0	97.0	98.0					1																	177911069		1941	4160	6101	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177911069C>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1988G>T	1.37:g.177911069C>A	ENSP00000308339:p.Ser663Ile					RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.S663I	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			16	2077	-			663					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1988G>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684571	0.47991	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.15256	2.44	5.65	2.78	0.32641	.	0.275037	0.37906	N	0.001888	T	0.23727	0.0574	L	0.43646	1.37	0.80722	D	1	P;D;B;P	0.60575	0.629;0.988;0.372;0.955	B;P;B;P	0.60345	0.439;0.873;0.232;0.798	T	0.02424	-1.1161	10	0.23302	T	0.38	-1.7824	7.9441	0.29976	0.0:0.6766:0.0:0.3234	.	218;664;663;360	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	I	663;347;378	ENSP00000308339:S663I	ENSP00000239472:S378I	S	-	2	0	AL359075.1	176177692	0.945000	0.32115	0.602000	0.28890	0.535000	0.34838	0.013000	0.13310	0.338000	0.23692	0.650000	0.86243	AGC		0.498	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		21	58	1	0	7.41877e-09	1	8.93215e-09	21	58				
VPS16	64601	broad.mit.edu	37	20	2845660	2845660	+	Missense_Mutation	SNP	G	G	A	rs371692425		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2845660G>A	ENST00000380445.3	+	20	2035	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	VPS16_ENST00000380469.3_Missense_Mutation_p.A511T|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.A341T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	655					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGACAGCCGCCGATGCCTT	0.572																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1963-1965)Gcc>Acc		vacuolar protein sorting 16 homolog (S. cerevisiae)		G	,THR/ALA,THR/ALA	0,4406		0,0,2203	81.0	77.0	78.0		,1963,1531	3.9	1.0	20		78	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense,missense	PTPRA,VPS16	NM_002836.3,NM_022575.2,NM_080413.1	,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign	,655/840,511/696	2845660	1,13005	2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2845660G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1963G>A	20.37:g.2845660G>A	ENSP00000369810:p.Ala655Thr					PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.A511T|VPS16_ENST00000380443.3_Missense_Mutation_p.A341T	p.A655T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			20	2035	+			655					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1963G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589222	0.46110	0.0	1.16E-4	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.48522	0.81;0.81;0.81	4.89	3.94	0.45596	Vps16, C-terminal (1);	0.056865	0.64402	D	0.000001	T	0.35941	0.0949	L	0.49571	1.57	0.80722	D	1	P;P;D;P	0.54601	0.618;0.91;0.967;0.91	B;B;B;B	0.39617	0.102;0.264;0.305;0.264	T	0.13150	-1.0520	10	0.20046	T	0.44	-4.9515	9.4501	0.38721	0.0994:0.0:0.9006:0.0	.	131;341;511;655	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	T	655;511;341	ENSP00000369810:A655T;ENSP00000369836:A511T;ENSP00000369808:A341T	ENSP00000369808:A341T	A	+	1	0	VPS16	2793660	1.000000	0.71417	0.981000	0.43875	0.879000	0.50718	4.143000	0.58051	1.201000	0.43203	-0.136000	0.14681	GCC		0.572	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		29	35	0	0	0	1	0	29	35				
ZC3H4	23211	broad.mit.edu	37	19	47572365	47572365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572365G>A	ENST00000253048.5	-	14	2419	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	794							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CATTCTCCCGGTCCTGCTTGC	0.687																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2380-2382)gaC>gaT		zinc finger CCCH-type containing 4							88.0	101.0	97.0					19																	47572365		2086	4205	6291	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47572365G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2382C>T	19.37:g.47572365G>A						ZC3H4_ENST00000594019.1_Intron	p.D794D	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2419	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	794					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2382C>T	CCDS42582.1																																																																																				0.687	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			51	85	0	0	0	1	0	51	85				
TULP1	7287	broad.mit.edu	37	6	35478765	35478765	+	Silent	SNP	G	G	A	rs281865169|rs558243084|rs147950414	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35478765G>A	ENST00000229771.6	-	5	451	c.372C>T	c.(370-372)gaC>gaT	p.D124D	TULP1_ENST00000322263.4_Silent_p.D71D	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	124	Poly-Glu.		Missing (in RP14). {ECO:0000269|PubMed:9660588}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						cgtcctcctcgtcctcctctt	0.557																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(370-372)gaC>gaT		tubby like protein 1							58.0	62.0	60.0					6																	35478765		2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35478765G>A	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.372C>T	6.37:g.35478765G>A						TULP1_ENST00000322263.4_Silent_p.D71D	p.D124D	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			5	451	-			124		Missing (in RP14).	Poly-Glu.		O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.372C>T	CCDS4807.1																																																																																				0.557	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			25	61	0	0	0	1	0	25	61				
CCDC181	57821	broad.mit.edu	37	1	169366576	169366576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169366576G>A	ENST00000367806.3	-	5	1421	c.1269C>T	c.(1267-1269)caC>caT	p.H423H	CCDC181_ENST00000545005.1_Silent_p.H422H|CCDC181_ENST00000367805.3_Silent_p.H422H	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	423						nucleus (GO:0005634)											TCTGCTCTTCGTGCTTTTTTT	0.368																																						ENST00000545005.1																			0											c.(1264-1266)caC>caT		coiled-coil domain containing 181							140.0	119.0	126.0					1																	169366576		2203	4300	6503	SO:0001819	synonymous_variant	57821							g.chr1:169366576G>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1269C>T	1.37:g.169366576G>A						CCDC181_ENST00000367806.3_Silent_p.H423H|CCDC181_ENST00000367805.3_Silent_p.H422H	p.H422H							6	1773	-								O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.1266C>T																																																																																					0.368	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		23	29	0	0	0	1	0	23	29				
CCNDBP1	23582	broad.mit.edu	37	15	43481449	43481449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43481449C>T	ENST00000300213.4	+	4	544	c.302C>T	c.(301-303)gCa>gTa	p.A101V	CCNDBP1_ENST00000356633.5_5'UTR|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	101	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GCATTTATTGCAGTGTACTAT	0.393																																						ENST00000300213.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(301-303)gCa>gTa		cyclin D-type binding-protein 1							111.0	94.0	100.0					15																	43481449		2203	4299	6502	SO:0001583	missense	23582				cell cycle	cytoplasm|nucleus	protein binding	g.chr15:43481449C>T	AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.302C>T	15.37:g.43481449C>T	ENSP00000300213:p.Ala101Val					EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'UTR	p.A101V	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN		GBM - Glioblastoma multiforme(94;8.42e-07)	4	544	+		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	101			Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.		A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Missense_Mutation	SNP	ENST00000300213.4	37	c.302C>T	CCDS10092.1	.	.	.	.	.	.	.	.	.	.	C	8.558	0.877055	0.17395	.	.	ENSG00000166946	ENST00000300213	T	0.43688	0.94	4.96	0.709	0.18150	.	0.755780	0.12382	N	0.473801	T	0.31295	0.0792	L	0.36672	1.1	0.09310	N	0.999998	B;B	0.24483	0.104;0.076	B;B	0.31442	0.054;0.13	T	0.33007	-0.9885	10	0.51188	T	0.08	-11.6691	4.6591	0.12634	0.2701:0.5226:0.131:0.0763	.	101;101	O95273-2;O95273	.;CCDB1_HUMAN	V	101	ENSP00000300213:A101V	ENSP00000300213:A101V	A	+	2	0	CCNDBP1	41268741	0.891000	0.30450	0.001000	0.08648	0.006000	0.05464	1.012000	0.29924	0.060000	0.16281	-0.312000	0.09012	GCA		0.393	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		16	34	0	0	0	1	0	16	34				
ZNF276	92822	broad.mit.edu	37	16	89800422	89800422	+	Missense_Mutation	SNP	C	C	T	rs201628804		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89800422C>T	ENST00000443381.2	+	9	1547	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C	ZNF276_ENST00000568064.1_Missense_Mutation_p.R392C|ZNF276_ENST00000289816.5_Missense_Mutation_p.R409C|ZNF276_ENST00000446326.2_Missense_Mutation_p.R270C	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTACCTGCAGCGCCACGTGAA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18345	0.0		0.001	False		,,,				2504	0.0					ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1225-1227)Cgc>Tgc		zinc finger protein 276							77.0	59.0	65.0					16																	89800422		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89800422C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1450C>T	16.37:g.89800422C>T	ENSP00000415836:p.Arg484Cys					ZNF276_ENST00000446326.2_Missense_Mutation_p.R270C|ZNF276_ENST00000443381.2_Missense_Mutation_p.R484C|ZNF276_ENST00000568064.1_Missense_Mutation_p.R392C	p.R409C	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1537	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	484					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1225C>T	CCDS45554.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.8	4.455654	0.84209	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.78003	-1.14;2.3;2.3	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	N	0.08118	0	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;0.999;1.0	T	0.81163	-0.1058	10	0.72032	D	0.01	-42.5171	13.6239	0.62153	0.1548:0.8452:0.0:0.0	.	322;484;270;409	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	C	270;409;484	ENSP00000415999:R270C;ENSP00000289816:R409C;ENSP00000415836:R484C	ENSP00000289816:R409C	R	+	1	0	ZNF276	88327923	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.081000	0.50120	2.643000	0.89663	0.561000	0.74099	CGC		0.622	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		25	31	0	0	0	1	0	25	31				
CDH2	1000	broad.mit.edu	37	18	25727734	25727734	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25727734A>T	ENST00000269141.3	-	2	498	c.75T>A	c.(73-75)gcT>gcA	p.A25A		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	25					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCACCAGAAGCCTCTACAG	0.418																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(73-75)gcT>gcA		cadherin 2, type 1, N-cadherin (neuronal)							60.0	54.0	56.0					18																	25727734		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25727734A>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.75T>A	18.37:g.25727734A>T							p.A25A	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			2	498	-			25					A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.75T>A	CCDS11891.1																																																																																				0.418	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		8	18	0	0	0	1	0	8	18				
PRKAG2	51422	broad.mit.edu	37	7	151265822	151265822	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151265822G>T	ENST00000287878.4	-	11	1717	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I	PRKAG2_ENST00000418337.2_Missense_Mutation_p.L164I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.L280I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.L281I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L361I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	405	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	AGGAACTTGAGGATTCTTTTG	0.343																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(1213-1215)Ctc>Atc		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							107.0	107.0	107.0					7																	151265822		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151265822G>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1213C>A	7.37:g.151265822G>T	ENSP00000287878:p.Leu405Ile					PRKAG2_ENST00000418337.2_Missense_Mutation_p.L164I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L361I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.L280I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.L281I	p.L405I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	11	1717	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	405			CBS 2.		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.1213C>A	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182353	0.94885	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	5.49	5.49	0.81192	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	L	0.60455	1.87	0.80722	D	1	P;P	0.50443	0.873;0.935	P;D	0.68765	0.905;0.96	D	0.96871	0.9639	10	0.72032	D	0.01	.	18.3628	0.90380	0.0:0.0:1.0:0.0	.	280;405	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	I	164;405;281;280;361	ENSP00000387386:L164I;ENSP00000287878:L405I;ENSP00000419577:L281I;ENSP00000406544:L280I;ENSP00000376549:L361I	ENSP00000287878:L405I	L	-	1	0	PRKAG2	150896755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.611000	0.98342	2.582000	0.87167	0.650000	0.86243	CTC		0.343	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		6	76	1	0	0.00116845	1	0.00124821	6	76				
GPRIN2	9721	broad.mit.edu	37	10	46999062	46999062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999062C>T	ENST00000374317.1	+	3	455	c.182C>T	c.(181-183)gCc>gTc	p.A61V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A61V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	61										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGACCCCAGGCCCCGGAGGAA	0.697																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(181-183)gCc>gTc		G protein regulated inducer of neurite outgrowth 2							29.0	37.0	34.0					10																	46999062		2200	4294	6494	SO:0001583	missense	9721							g.chr10:46999062C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.182C>T	10.37:g.46999062C>T	ENSP00000363436:p.Ala61Val					GPRIN2_ENST00000374317.1_Missense_Mutation_p.A61V	p.A61V			O60269	GRIN2_HUMAN			1	1137	+			61					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.182C>T	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.581322	0.00879	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03181	4.02;4.02	5.64	1.5	0.22942	.	1.157760	0.06517	N	0.738962	T	0.01765	0.0056	N	0.02539	-0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.48456	-0.9034	10	0.13108	T	0.6	-1.4408	7.5517	0.27802	0.0:0.6286:0.0:0.3714	.	61	O60269	GRIN2_HUMAN	V	61	ENSP00000363436:A61V;ENSP00000363433:A61V	ENSP00000363433:A61V	A	+	2	0	GPRIN2	46419068	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.067000	0.11579	0.067000	0.16545	0.650000	0.86243	GCC		0.697	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		11	57	0	0	0	1	0	11	57				
SI	6476	broad.mit.edu	37	3	164750400	164750400	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164750400C>T	ENST00000264382.3	-	24	2708	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	882	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTCTGTCAACCCAAGGATTT	0.358										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2644-2646)ggG>ggA		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						142.0	133.0	136.0					3																	164750400		2202	4299	6501	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164750400C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2646G>A	3.37:g.164750400C>T		HNSCC(35;0.089)					p.G882G	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			24	2708	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	882			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2646G>A	CCDS3196.1																																																																																				0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	34	0	0	0	1	0	17	34				
FAM188A	80013	broad.mit.edu	37	10	15876560	15876560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15876560G>T	ENST00000277632.3	-	7	852	c.632C>A	c.(631-633)cCt>cAt	p.P211H	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	211					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCCATATACAGGATCTATCAA	0.318																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(631-633)cCt>cAt		family with sequence similarity 188, member A							181.0	169.0	173.0					10																	15876560		2203	4300	6503	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15876560G>T	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.632C>A	10.37:g.15876560G>T	ENSP00000277632:p.Pro211His					FAM188A_ENST00000477891.1_5'UTR	p.P211H	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			7	852	-			211					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.632C>A	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109574	0.77096	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.30714	1.52;1.52;1.52	5.74	4.83	0.62350	.	0.046691	0.85682	D	0.000000	T	0.54398	0.1856	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.56535	-0.7963	10	0.48119	T	0.1	-8.1322	16.7844	0.85570	0.0:0.129:0.871:0.0	.	211	Q9H8M7	F188A_HUMAN	H	211;51;64	ENSP00000277632:P211H;ENSP00000388661:P51H;ENSP00000389883:P64H	ENSP00000277632:P211H	P	-	2	0	FAM188A	15916566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.773000	0.91762	1.402000	0.46780	0.650000	0.86243	CCT		0.318	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		4	64	1	0	0.150653	1	0.152692	4	64				
TTN	7273	broad.mit.edu	37	2	179396215	179396215	+	Missense_Mutation	SNP	G	G	A	rs200378865	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179396215G>A	ENST00000591111.1	-	308	100428	c.100204C>T	c.(100204-100206)Cgc>Tgc	p.R33402C	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25978C|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26103C|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32475C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35043C|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26170C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33402					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCTCTGCGTTGGGAAGCA	0.488													G|||	6	0.00119808	0.0045	0.0	5008	,	,		21999	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(105127-105129)Cgc>Tgc		titin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	25,3871		0,25,1923	123.0	122.0	122.0		77932,97423,78307,78508	5.4	1.0	2		122	0,8326		0,0,4163	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	180,180,180,180	0,25,6086	AA,AG,GG		0.0,0.6417,0.2045	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25978/26927,32475/33424,26103/27052,26170/27119	179396215	25,12197	1948	4163	6111	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396215G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100204C>T	2.37:g.179396215G>A	ENSP00000465570:p.Arg33402Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25978C|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32475C|TTN_ENST00000359218.5_Missense_Mutation_p.R26103C|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26170C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33402C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA	p.R35043C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	105351	-			33402					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.105127C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886507	0.51908	0.006417	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71698	-0.59;-0.41;-0.43;-0.5	5.45	5.45	0.79879	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.70701	0.3254	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.77392	-0.2605	9	0.87932	D	0	.	15.6338	0.76933	0.0:0.0:0.8622:0.1378	.	25978;26103;26170;33402	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	32475;25978;26170;26103;25975	ENSP00000343764:R32475C;ENSP00000434586:R25978C;ENSP00000340554:R26170C;ENSP00000352154:R26103C	ENSP00000340554:R26170C	R	-	1	0	TTN	179104461	1.000000	0.71417	0.975000	0.42487	0.179000	0.23085	7.960000	0.87893	2.558000	0.86282	0.650000	0.86243	CGC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	66	0	0	0	1	0	36	66				
UBR4	23352	broad.mit.edu	37	1	19446192	19446192	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19446192A>C	ENST00000375254.3	-	70	10341	c.10314T>G	c.(10312-10314)aaT>aaG	p.N3438K	UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.N3414K|UBR4_ENST00000375267.2_Missense_Mutation_p.N3438K|UBR4_ENST00000375217.2_Missense_Mutation_p.N3431K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3438					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTTGCTGGAATTTCTGTGGA	0.488																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(10312-10314)aaT>aaG		ubiquitin protein ligase E3 component n-recognin 4							65.0	68.0	67.0					1																	19446192		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19446192A>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10314T>G	1.37:g.19446192A>C	ENSP00000364403:p.Asn3438Lys					UBR4_ENST00000375254.3_Missense_Mutation_p.N3438K|UBR4_ENST00000375217.2_Missense_Mutation_p.N3431K|UBR4_ENST00000375226.2_Missense_Mutation_p.N3414K	p.N3438K			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	70	10317	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3438					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10314T>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380012	0.61845	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.95	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.59436	1.845	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.71991	-0.4425	10	0.52906	T	0.07	.	10.9459	0.47299	0.1539:0.0:0.8461:0.0	.	3438	Q5T4S7	UBR4_HUMAN	K	3438;3438;3431;3414	ENSP00000364403:N3438K;ENSP00000364416:N3438K;ENSP00000364365:N3431K;ENSP00000364374:N3414K	ENSP00000364365:N3431K	N	-	3	2	UBR4	19318779	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.882000	0.56160	0.845000	0.35118	-0.242000	0.12053	AAT		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		20	31	0	0	0	1	0	20	31				
ECM2	1842	broad.mit.edu	37	9	95263331	95263331	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95263331G>A	ENST00000344604.5	-	9	1758	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L515L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	537					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ATGGATTCTAGATTTCTGCAG	0.448																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1609-1611)Cta>Tta		extracellular matrix protein 2, female organ and adipocyte specific							90.0	86.0	87.0					9																	95263331		2203	4300	6503	SO:0001819	synonymous_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95263331G>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1609C>T	9.37:g.95263331G>A						CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L515L	p.L537L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			9	1758	-			537					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	c.1609C>T	CCDS6698.1																																																																																				0.448	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		15	30	0	0	0	1	0	15	30				
NUP160	23279	broad.mit.edu	37	11	47819386	47819386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47819386G>A	ENST00000378460.2	-	27	3280	c.3234C>T	c.(3232-3234)caC>caT	p.H1078H	NUP160_ENST00000528071.1_Silent_p.H964H|NUP160_ENST00000530326.1_Silent_p.H964H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1078					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CATAGTAATTGTGAGTCATAA	0.433																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(3232-3234)caC>caT		nucleoporin 160kDa							164.0	139.0	147.0					11																	47819386		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47819386G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3234C>T	11.37:g.47819386G>A						NUP160_ENST00000528071.1_Silent_p.H964H|NUP160_ENST00000530326.1_Silent_p.H964H	p.H1078H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			27	3280	-			1078					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.3234C>T	CCDS31484.1																																																																																				0.433	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		28	42	0	0	0	1	0	28	42				
NUP160	23279	broad.mit.edu	37	11	47858490	47858490	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47858490G>T	ENST00000378460.2	-	6	937	c.891C>A	c.(889-891)gcC>gcA	p.A297A	NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Silent_p.A183A|NUP160_ENST00000528071.1_Silent_p.A183A	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	297					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAAAGATGAAGGCATCATGCT	0.418																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(889-891)gcC>gcA		nucleoporin 160kDa							176.0	154.0	161.0					11																	47858490		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47858490G>T	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.891C>A	11.37:g.47858490G>T						NUP160_ENST00000528071.1_Silent_p.A183A|NUP160_ENST00000530326.1_Silent_p.A183A|NUP160_ENST00000532747.1_3'UTR	p.A297A	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			6	937	-			297					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.891C>A	CCDS31484.1																																																																																				0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		5	63	1	0	0.0215528	1	0.0221649	5	63				
TRAPPC9	83696	broad.mit.edu	37	8	141381168	141381168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381168C>T	ENST00000438773.2	-	8	1379	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V407M|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.V514M	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	416					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTGGGGCCACGCACTGCATG	0.587																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1540-1542)Gtg>Atg		trafficking protein particle complex 9							69.0	68.0	68.0					8																	141381168		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381168C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1246G>A	8.37:g.141381168C>T	ENSP00000405060:p.Val416Met					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V407M|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V416M	p.V514M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			8	1554	-			416					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1540G>A	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.763998|4.763998	0.89932|0.89932	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.115872	.|0.64402	.|D	.|0.000020	T|T	0.75302|0.75302	0.3831|0.3831	L|L	0.56280|0.56280	1.765|1.765	0.53688|0.53688	D|D	0.999974|0.999974	.|D;D;P	.|0.89917	.|1.0;0.978;0.955	.|D;P;P	.|0.69654	.|0.965;0.633;0.458	T|T	0.74705|0.74705	-0.3575|-0.3575	5|9	.|0.49607	.|T	.|0.09	.|.	17.9129|17.9129	0.88939|0.88939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|416;407;514	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	H|M	259|514;407;416	.|.	.|ENSP00000373978:V407M	R|V	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141450350|141450350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.569000|0.569000	0.35902|0.35902	7.398000|7.398000	0.79919|0.79919	2.663000|2.663000	0.90544|0.90544	0.455000|0.455000	0.32223|0.32223	CGT|GTG		0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		4	48	0	0	0	1	0	4	48				
FKBP15	23307	broad.mit.edu	37	9	115950167	115950167	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115950167G>T	ENST00000238256.3	-	14	1406	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	430					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCAGTAACAGATGGCTGAGG	0.463																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(1288-1290)tCt>tAt		FK506 binding protein 15, 133kDa							79.0	83.0	81.0					9																	115950167		2011	4189	6200	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115950167G>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1289C>A	9.37:g.115950167G>T	ENSP00000238256:p.Ser430Tyr						p.S430Y	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			14	1406	-			430					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.1289C>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.232475	0.79688	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.33216	1.81;1.81;1.42	5.97	5.97	0.96955	.	.	.	.	.	T	0.50769	0.1635	L	0.59436	1.845	0.32295	N	0.56583	D;D;P;P	0.65815	0.995;0.967;0.955;0.944	D;P;P;B	0.63283	0.913;0.468;0.73;0.296	T	0.58640	-0.7601	9	0.72032	D	0.01	-3.344	15.924	0.79597	0.0:0.0:1.0:0.0	.	11;430;430;430	B4DVS2;Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;.;FKB15_HUMAN	Y	455;430;455	ENSP00000416158:S455Y;ENSP00000238256:S430Y;ENSP00000415733:S455Y	ENSP00000238256:S430Y	S	-	2	0	FKBP15	114989988	0.999000	0.42202	0.997000	0.53966	0.967000	0.64934	4.409000	0.59768	2.828000	0.97474	0.655000	0.94253	TCT		0.463	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		3	21	1	0	0.150653	1	0.152692	3	21				
FRS3	10817	broad.mit.edu	37	6	41739216	41739216	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41739216T>C	ENST00000373018.3	-	7	871	c.620A>G	c.(619-621)cAc>cGc	p.H207R	FRS3_ENST00000259748.2_Missense_Mutation_p.H207R	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	207					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCAGGCAGTGGCGGCCCCT	0.662																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(619-621)cAc>cGc		fibroblast growth factor receptor substrate 3							47.0	52.0	51.0					6																	41739216		2203	4298	6501	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41739216T>C	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.620A>G	6.37:g.41739216T>C	ENSP00000362109:p.His207Arg					FRS3_ENST00000259748.2_Missense_Mutation_p.H207R	p.H207R	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	871	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		207					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.620A>G	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	T	9.597	1.127562	0.20959	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.22945	1.93;1.93	4.79	2.4	0.29515	.	0.046761	0.85682	D	0.000000	T	0.05318	0.0141	N	0.21097	0.63	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.18524	-1.0334	10	0.12430	T	0.62	-29.8917	9.1734	0.37096	0.0:0.1766:0.0:0.8234	.	207	O43559	FRS3_HUMAN	R	207	ENSP00000362109:H207R;ENSP00000259748:H207R	ENSP00000259748:H207R	H	-	2	0	FRS3	41847194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.782000	0.38654	0.869000	0.35703	0.533000	0.62120	CAC		0.662	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		21	43	0	0	0	1	0	21	43				
CYP4V2	285440	broad.mit.edu	37	4	187131752	187131752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187131752G>A	ENST00000378802.4	+	11	1839	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	512					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CCAAGTAATGGCATCTGGATC	0.398																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1534-1536)gGc>gAc		cytochrome P450, family 4, subfamily V, polypeptide 2							123.0	119.0	120.0					4																	187131752		2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187131752G>A	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1535G>A	4.37:g.187131752G>A	ENSP00000368079:p.Gly512Asp					CYP4V2_ENST00000502665.1_3'UTR	p.G512D	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	11	1839	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	512					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1535G>A	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458994	0.84317	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.81247	-1.47	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.90280	0.6960	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.90934	0.4792	10	0.66056	D	0.02	.	18.9579	0.92665	0.0:0.0:1.0:0.0	.	512	Q6ZWL3	CP4V2_HUMAN	D	512;490	ENSP00000368079:G512D	ENSP00000274118:G490D	G	+	2	0	CYP4V2	187368746	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	8.922000	0.92789	2.717000	0.92951	0.655000	0.94253	GGC		0.398	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		17	37	0	0	0	1	0	17	37				
AP1B1	162	broad.mit.edu	37	22	29724848	29724848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29724848G>A	ENST00000405198.1	-	22	2843	c.2812C>T	c.(2812-2814)Cac>Tac	p.H938Y	AP1B1_ENST00000317368.7_Missense_Mutation_p.H908Y|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000402502.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000415447.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.H928Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.H931Y|AP1B1_ENST00000357586.2_Missense_Mutation_p.H938Y			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	938					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGTACACGTGCTGGGACACC	0.657																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2812-2814)Cac>Tac		adaptor-related protein complex 1, beta 1 subunit							68.0	55.0	59.0					22																	29724848		2203	4299	6502	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29724848G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2812C>T	22.37:g.29724848G>A	ENSP00000384194:p.His938Tyr					AP1B1_ENST00000405198.1_Missense_Mutation_p.H938Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.H928Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.H931Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.H908Y|AP1B1_ENST00000415447.1_Missense_Mutation_p.H928Y	p.H938Y	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			23	2998	-			938					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2812C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	g	3.190	-0.165961	0.06461	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.21543	2.0;2.01;2.0;2.0;2.01;2.0;2.0	5.43	3.36	0.38483	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.309128	0.39341	N	0.001394	T	0.05318	0.0141	N	0.00926	-1.1	0.32069	N	0.594683	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.0;0.001;0.0	T	0.27331	-1.0077	10	0.07030	T	0.85	-15.0836	7.9458	0.29985	0.2497:0.0:0.7503:0.0	.	488;908;931;938;928	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	Y	938;931;928;938;908;928;928	ENSP00000350199:H938Y;ENSP00000348297:H931Y;ENSP00000400065:H928Y;ENSP00000384194:H938Y;ENSP00000319361:H908Y;ENSP00000386071:H928Y;ENSP00000387612:H928Y	ENSP00000319361:H908Y	H	-	1	0	AP1B1	28054848	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	2.477000	0.45180	1.313000	0.45069	-0.232000	0.12228	CAC		0.657	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		6	9	0	0	0	1	0	6	9				
SCAF4	57466	broad.mit.edu	37	21	33063198	33063198	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33063198A>G	ENST00000286835.7	-	15	2179	c.1797T>C	c.(1795-1797)gtT>gtC	p.V599V	SCAF4_ENST00000399804.1_Silent_p.V599V|SCAF4_ENST00000434667.3_Silent_p.V584V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	599				GVT -> CVI (in Ref. 1; AAD09327). {ECO:0000305}.		nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAATATAAGTAACACCAAGTT	0.383																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1795-1797)gtT>gtC		SR-related CTD-associated factor 4							204.0	195.0	198.0					21																	33063198		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33063198A>G	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1797T>C	21.37:g.33063198A>G						SCAF4_ENST00000399804.1_Silent_p.V599V|SCAF4_ENST00000434667.3_Silent_p.V584V	p.V599V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			15	2179	-			599	GVT -> CVI (in Ref. 1; AAD09327).				C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.1797T>C	CCDS33537.1																																																																																				0.383	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		43	69	0	0	0	1	0	43	69				
PMS2	5395	broad.mit.edu	37	7	6043351	6043351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6043351C>T	ENST00000265849.7	-	4	428	c.323G>A	c.(322-324)gGg>gAg	p.G108E	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000406569.3_Missense_Mutation_p.G108E|PMS2_ENST00000382321.4_Missense_Mutation_p.G108E	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	108					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGAGCTTCCCCCCGAAAGCC	0.403			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(322-324)gGg>gAg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							54.0	61.0	58.0					7																	6043351		1393	2386	3779	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043351C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.323G>A	7.37:g.6043351C>T	ENSP00000265849:p.Gly108Glu					PMS2_ENST00000406569.3_Missense_Mutation_p.G108E|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.G108E	p.G108E	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	4	428	-		Ovarian(82;0.0694)	108					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.323G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877708	0.91664	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	D;D;D	0.97731	-4.51;-4.51;-4.51	5.68	4.8	0.61643	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);DNA mismatch repair, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.973;0.998	D	0.97981	1.0349	10	0.87932	D	0	-15.0742	14.5527	0.68078	0.0:0.9295:0.0:0.0705	.	108;108;108	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	E	108;61;108;108	ENSP00000265849:G108E;ENSP00000371758:G108E;ENSP00000384308:G108E	ENSP00000265849:G108E	G	-	2	0	PMS2	6009877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.223000	0.78033	1.392000	0.46585	0.484000	0.47621	GGG		0.403	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		17	44	0	0	0	1	0	17	44				
TNC	3371	broad.mit.edu	37	9	117840388	117840388	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117840388G>T	ENST00000350763.4	-	7	2919	c.2508C>A	c.(2506-2508)acC>acA	p.T836T	TNC_ENST00000542877.1_Silent_p.T836T|TNC_ENST00000423613.2_Silent_p.T836T|TNC_ENST00000346706.3_Silent_p.T836T|TNC_ENST00000537320.1_Silent_p.T836T|TNC_ENST00000341037.4_Silent_p.T836T|TNC_ENST00000345230.3_Silent_p.T836T|TNC_ENST00000535648.1_Silent_p.T836T|TNC_ENST00000340094.3_Silent_p.T836T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	836	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGATGCCGTAGGTCAGCTCAA	0.557																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2506-2508)acC>acA		tenascin C							212.0	159.0	177.0					9																	117840388		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117840388G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2508C>A	9.37:g.117840388G>T						TNC_ENST00000345230.3_Silent_p.T836T|TNC_ENST00000542877.1_Silent_p.T836T|TNC_ENST00000423613.2_Silent_p.T836T|TNC_ENST00000346706.3_Silent_p.T836T|TNC_ENST00000537320.1_Silent_p.T836T|TNC_ENST00000340094.3_Silent_p.T836T|TNC_ENST00000341037.4_Silent_p.T836T|TNC_ENST00000535648.1_Silent_p.T836T	p.T836T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			7	2919	-			836			Fibronectin type-III 3.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.2508C>A	CCDS6811.1																																																																																				0.557	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		16	31	1	0	9.16793e-09	1	1.10245e-08	16	31				
XIRP1	165904	broad.mit.edu	37	3	39229155	39229155	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39229155G>T	ENST00000340369.3	-	2	2010	c.1782C>A	c.(1780-1782)atC>atA	p.I594I	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.I594I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	594	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAACCACCGGATGGTCTGCA	0.587																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1780-1782)atC>atA		xin actin-binding repeat containing 1							76.0	65.0	69.0					3																	39229155		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229155G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1782C>A	3.37:g.39229155G>T						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.I594I	p.I594I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2010	-			594			Interaction with CTNNB1 (By similarity).		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1782C>A	CCDS2683.1																																																																																				0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		30	33	1	0	9.65021e-13	1	1.21719e-12	30	33				
PTPRA	5786	broad.mit.edu	37	20	2998533	2998533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2998533G>A	ENST00000216877.6	+	12	1388	c.988G>A	c.(988-990)Gtt>Att	p.V330I	PTPRA_ENST00000358719.4_Missense_Mutation_p.V195I|PTPRA_ENST00000380393.3_Missense_Mutation_p.V339I|PTPRA_ENST00000399903.2_Missense_Mutation_p.V339I|PTPRA_ENST00000425918.2_Missense_Mutation_p.V350I|PTPRA_ENST00000318266.5_Missense_Mutation_p.V330I|PTPRA_ENST00000356147.3_Missense_Mutation_p.V330I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	339	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCGTCATGGTTACCAACCT	0.443																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(988-990)Gtt>Att		protein tyrosine phosphatase, receptor type, A							111.0	102.0	105.0					20																	2998533		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2998533G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.988G>A	20.37:g.2998533G>A	ENSP00000216877:p.Val330Ile					PTPRA_ENST00000358719.4_Missense_Mutation_p.V195I|PTPRA_ENST00000356147.3_Missense_Mutation_p.V330I|PTPRA_ENST00000380393.3_Missense_Mutation_p.V339I|PTPRA_ENST00000425918.2_Missense_Mutation_p.V350I|PTPRA_ENST00000399903.2_Missense_Mutation_p.V339I|PTPRA_ENST00000318266.5_Missense_Mutation_p.V330I	p.V330I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			12	1388	+			339			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.988G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610064	0.96637	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000001	D	0.88418	0.6431	L	0.43701	1.375	0.80722	D	1	P;D;P	0.58268	0.536;0.982;0.779	P;D;P	0.74674	0.464;0.984;0.493	D	0.83999	0.0342	10	0.25751	T	0.34	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	350;339;330	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	I	339;330;339;195;350;330;330	ENSP00000369756:V339I;ENSP00000216877:V330I;ENSP00000382787:V339I;ENSP00000351559:V195I;ENSP00000393553:V350I;ENSP00000314568:V330I;ENSP00000348468:V330I	ENSP00000216877:V330I	V	+	1	0	PTPRA	2946533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.871000	0.87180	2.941000	0.99782	0.655000	0.94253	GTT		0.443	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			5	49	0	0	0	1	0	5	49				
KDM2B	84678	broad.mit.edu	37	12	121877673	121877673	+	Missense_Mutation	SNP	C	C	A	rs536601712		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121877673C>A	ENST00000377071.4	-	22	3888	c.3816G>T	c.(3814-3816)gaG>gaT	p.E1272D	KDM2B_ENST00000377069.4_Missense_Mutation_p.E1203D|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E640D	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1272					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAGGTTGATCTCGGTTAAGG	0.547																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3607-3609)gaG>gaT		lysine (K)-specific demethylase 2B							83.0	95.0	91.0					12																	121877673		2102	4215	6317	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121877673C>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3816G>T	12.37:g.121877673C>A	ENSP00000366271:p.Glu1272Asp					KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.E1272D|KDM2B_ENST00000542973.1_Missense_Mutation_p.E640D	p.E1203D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			21	4015	-			1272					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3609G>T	CCDS41850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.65|18.65	3.668837|3.668837	0.67814|0.67814	.|.	.|.	ENSG00000089094|ENSG00000089094	ENST00000397478|ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	.|T;T;T	.|0.02395	.|4.31;4.31;4.31	5.82|5.82	1.3|1.3	0.21679|0.21679	.|.	.|0.000000	.|0.53938	.|D	.|0.000052	T|T	0.02193|0.02193	0.0068|0.0068	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.19817	.|0.039;0.015;0.015;0.019	.|B;B;B;B	.|0.22880	.|0.042;0.01;0.01;0.024	T|T	0.53258|0.53258	-0.8464|-0.8464	6|10	0.42905|0.66056	T|D	0.14|0.02	-25.7926|-25.7926	10.3532|10.3532	0.43948|0.43948	0.0:0.5416:0.0:0.4584|0.0:0.5416:0.0:0.4584	.|.	.|712;1272;1203;715	.|B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.|.;KDM2B_HUMAN;.;.	Y|D	703|1262;640;1203;1272;715;1275	.|ENSP00000437821:E640D;ENSP00000366269:E1203D;ENSP00000366271:E1272D	ENSP00000380615:D703Y|ENSP00000261824:E1275D	D|E	-|-	1|3	0|2	KDM2B|KDM2B	120362056|120362056	0.992000|0.992000	0.36948|0.36948	0.993000|0.993000	0.49108|0.49108	0.989000|0.989000	0.77384|0.77384	0.208000|0.208000	0.17415|0.17415	0.249000|0.249000	0.21456|0.21456	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.547	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		13	16	1	0	0.000219431	1	0.000240782	13	16				
ZCCHC5	203430	broad.mit.edu	37	X	77913581	77913581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77913581C>A	ENST00000321110.1	-	2	632	c.337G>T	c.(337-339)Gag>Tag	p.E113*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	113	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCCAGGGACTCTGGGGCTGCT	0.637																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(337-339)Gag>Tag		zinc finger, CCHC domain containing 5							21.0	24.0	23.0					X																	77913581		2202	4292	6494	SO:0001587	stop_gained	203430						nucleic acid binding|zinc ion binding	g.chrX:77913581C>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.337G>T	X.37:g.77913581C>A	ENSP00000316794:p.Glu113*						p.E113*	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	632	-			113			Pro-rich.		B2RMZ0|Q5JQE9	Nonsense_Mutation	SNP	ENST00000321110.1	37	c.337G>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686001	0.88639	.	.	ENSG00000179300	ENST00000321110	.	.	.	2.64	0.841	0.18918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	6.011	0.19575	0.0:0.7043:0.0:0.2957	.	.	.	.	X	113	.	ENSP00000316794:E113X	E	-	1	0	ZCCHC5	77800237	0.002000	0.14202	0.003000	0.11579	0.183000	0.23260	0.551000	0.23361	0.105000	0.17753	0.422000	0.28245	GAG		0.637	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		4	20	1	0	0.00024832	1	0.0002712	4	20				
MFSD12	126321	broad.mit.edu	37	19	3547269	3547269	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3547269C>T	ENST00000355415.2	-	6	1193		c.e6+1		MFSD12_ENST00000591878.1_5'Flank|MFSD12_ENST00000389395.3_Splice_Site|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Splice_Site	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12						transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGCCCACTCACGTTCCTCCCA	0.627																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.e6+1		major facilitator superfamily domain containing 12							62.0	66.0	64.0					19																	3547269		1982	4154	6136	SO:0001630	splice_region_variant	126321				transmembrane transport	integral to membrane		g.chr19:3547269C>T	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1023+1G>A	19.37:g.3547269C>T						MFSD12_ENST00000389395.3_Splice_Site|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Splice_Site		NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			6	1193	-								A8MXP7|D6W615|E9PAJ8|Q8N459	Splice_Site	SNP	ENST00000355415.2	37		CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995157	0.35226	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5211	0.87787	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf28	3498269	1.000000	0.71417	0.780000	0.31762	0.005000	0.04900	6.994000	0.76251	2.367000	0.80283	0.555000	0.69702	.		0.627	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983	Intron	18	43	0	0	0	1	0	18	43				
TECPR1	25851	broad.mit.edu	37	7	97862928	97862928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97862928T>C	ENST00000447648.2	-	11	1776	c.1477A>G	c.(1477-1479)Aag>Gag	p.K493E	TECPR1_ENST00000542604.1_Missense_Mutation_p.K423E|TECPR1_ENST00000379795.3_Missense_Mutation_p.K493E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	493					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGCCTCCTTGAGGTCAATA	0.692																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1477-1479)Aag>Gag		tectonin beta-propeller repeat containing 1							21.0	27.0	25.0					7																	97862928		1869	4087	5956	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97862928T>C		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1477A>G	7.37:g.97862928T>C	ENSP00000404923:p.Lys493Glu					TECPR1_ENST00000379795.3_Missense_Mutation_p.K493E|TECPR1_ENST00000542604.1_Missense_Mutation_p.K423E	p.K493E			Q7Z6L1	TCPR1_HUMAN			11	1776	-			493					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.1477A>G	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	9.964	1.223560	0.22457	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.31247	1.52;1.5;1.52	4.57	4.57	0.56435	.	0.352176	0.29529	N	0.011900	T	0.19644	0.0472	L	0.40543	1.245	0.31981	N	0.605861	B;B	0.20780	0.048;0.007	B;B	0.18871	0.023;0.01	T	0.22626	-1.0211	10	0.02654	T	1	-43.0345	8.6866	0.34240	0.1698:0.0:0.0:0.8302	.	423;493	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	E	493;493;423	ENSP00000404923:K493E;ENSP00000369121:K493E;ENSP00000441121:K423E	ENSP00000369121:K493E	K	-	1	0	TECPR1	97700864	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.473000	0.60196	1.711000	0.51337	0.379000	0.24179	AAG		0.692	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		4	36	0	0	0	1	0	4	36				
EIF4G2	1982	broad.mit.edu	37	11	10824816	10824816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824816C>T	ENST00000526148.1	-	10	1349	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	EIF4G2_ENST00000525681.1_Missense_Mutation_p.R280Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R280Q|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R280Q|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGAGCACATTCGGGCAAAGTA	0.363																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(838-840)cGa>cAa		eukaryotic translation initiation factor 4 gamma, 2							72.0	65.0	67.0					11																	10824816		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10824816C>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.839G>A	11.37:g.10824816C>T	ENSP00000433664:p.Arg280Gln					EIF4G2_ENST00000525681.1_Missense_Mutation_p.R280Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R280Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R280Q	p.R280Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	10	1349	-			280			MIF4G.			Missense_Mutation	SNP	ENST00000526148.1	37	c.839G>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501070	0.85176	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.88	5.88	0.94601	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.58925	1.835	0.49915	D	0.999833	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.949	T	0.10917	-1.0609	9	0.22109	T	0.4	-6.3759	20.2187	0.98312	0.0:1.0:0.0:0.0	.	280;280;353	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	Q	280;280;280;280;353;280;280	ENSP00000433664:R280Q;ENSP00000433371:R280Q;ENSP00000340281:R280Q;ENSP00000379778:R280Q;ENSP00000431583:R280Q;ENSP00000433121:R280Q	ENSP00000340281:R280Q	R	-	2	0	EIF4G2	10781392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.713000	0.84693	2.780000	0.95670	0.655000	0.94253	CGA		0.363	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		10	32	0	0	0	1	0	10	32				
CCR4	1233	broad.mit.edu	37	3	32995288	32995288	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32995288T>C	ENST00000330953.5	+	2	542	c.374T>C	c.(373-375)aTa>aCa	p.I125T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	125					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TACAGTGGCATATTCTTTGTC	0.483																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(373-375)aTa>aCa		chemokine (C-C motif) receptor 4							295.0	292.0	293.0					3																	32995288		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995288T>C	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.374T>C	3.37:g.32995288T>C	ENSP00000332659:p.Ile125Thr						p.I125T	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	542	+			125					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.374T>C	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.687469	0.68157	.	.	ENSG00000183813	ENST00000330953	T	0.76186	-1.0	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	D	0.84224	0.5425	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85499	0.1190	10	0.72032	D	0.01	.	16.0852	0.81042	0.0:0.0:0.0:1.0	.	125	P51679	CCR4_HUMAN	T	125	ENSP00000332659:I125T	ENSP00000332659:I125T	I	+	2	0	CCR4	32970292	1.000000	0.71417	0.985000	0.45067	0.590000	0.36582	6.193000	0.72075	2.279000	0.76181	0.533000	0.62120	ATA		0.483	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			5	219	0	0	0	1	0	5	219				
SI	6476	broad.mit.edu	37	3	164776843	164776843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164776843C>T	ENST00000264382.3	-	12	1368	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	436	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTTCCATTGGCACGTCGACCT	0.363										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1306-1308)Gcc>Acc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						100.0	87.0	91.0					3																	164776843		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164776843C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1306G>A	3.37:g.164776843C>T	ENSP00000264382:p.Ala436Thr	HNSCC(35;0.089)					p.A436T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			12	1368	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	436			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1306G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243748	0.22796	.	.	ENSG00000090402	ENST00000264382	D	0.89123	-2.47	5.57	-3.71	0.04424	Glycoside hydrolase, superfamily (1);	0.883805	0.10228	N	0.700068	T	0.78407	0.4278	L	0.41906	1.305	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.60865	-0.7178	10	0.19147	T	0.46	.	3.7323	0.08498	0.1:0.3228:0.1083:0.4689	.	436	P14410	SUIS_HUMAN	T	436	ENSP00000264382:A436T	ENSP00000264382:A436T	A	-	1	0	SI	166259537	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.000000	0.01466	-0.408000	0.07565	-0.781000	0.03364	GCC		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		16	20	0	0	0	1	0	16	20				
SCUBE3	222663	broad.mit.edu	37	6	35200674	35200674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35200674C>T	ENST00000274938.7	+	5	517	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R173W	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCACATTTGCCGGGAGACACC	0.493																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(517-519)Cgg>Tgg		signal peptide, CUB domain, EGF-like 3							124.0	123.0	123.0					6																	35200674		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35200674C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.517C>T	6.37:g.35200674C>T	ENSP00000274938:p.Arg173Trp					SCUBE3_ENST00000394681.1_Missense_Mutation_p.R173W	p.R173W	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			5	517	+			173			EGF-like 4.			Missense_Mutation	SNP	ENST00000274938.7	37	c.517C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496403	0.85069	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.95656	-3.77;-3.77	5.13	5.13	0.70059	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	M	0.87097	2.86	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.97850	1.0274	10	0.59425	D	0.04	.	13.5363	0.61648	0.1558:0.8442:0.0:0.0	.	173;173	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	W	173	ENSP00000378174:R173W;ENSP00000274938:R173W	ENSP00000274938:R173W	R	+	1	2	SCUBE3	35308652	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.956000	0.40382	2.382000	0.81193	0.448000	0.29417	CGG		0.493	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		37	84	0	0	0	1	0	37	84				
GTF2E1	2960	broad.mit.edu	37	3	120500072	120500072	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120500072A>T	ENST00000283875.5	+	5	1168	c.1075A>T	c.(1075-1077)Agt>Tgt	p.S359C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	359					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCGAGACCAGTGAGTCAGA	0.532																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(1075-1077)Agt>Tgt		general transcription factor IIE, polypeptide 1, alpha 56kDa							117.0	116.0	116.0					3																	120500072		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120500072A>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1075A>T	3.37:g.120500072A>T	ENSP00000283875:p.Ser359Cys						p.S359C	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	5	1168	+			359					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.1075A>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631342	0.87660	.	.	ENSG00000153767	ENST00000283875	T	0.62639	0.01	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80913	-0.1170	10	0.66056	D	0.02	-48.0889	14.7379	0.69430	1.0:0.0:0.0:0.0	.	359	P29083	T2EA_HUMAN	C	359	ENSP00000283875:S359C	ENSP00000283875:S359C	S	+	1	0	GTF2E1	121982762	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.375000	0.90135	2.270000	0.75569	0.528000	0.53228	AGT		0.532	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		5	49	0	0	0	1	0	5	49				
XAB2	56949	broad.mit.edu	37	19	7684867	7684867	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684867C>T	ENST00000358368.4	-	17	2398	c.2361G>A	c.(2359-2361)caG>caA	p.Q787Q	XAB2_ENST00000534844.1_Silent_p.Q784Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	787					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCGCAAGGGCTGGTCACGCT	0.672								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(2359-2361)caG>caA	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							37.0	37.0	37.0					19																	7684867		2203	4297	6500	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7684867C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2361G>A	19.37:g.7684867C>T						XAB2_ENST00000534844.1_Silent_p.Q784Q	p.Q787Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			17	2398	-			787					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.2361G>A	CCDS32892.1																																																																																				0.672	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		6	39	0	0	0	1	0	6	39				
PABPC5	140886	broad.mit.edu	37	X	90691273	90691273	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:90691273G>T	ENST00000312600.3	+	2	911	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.D69Y	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	233	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGTAATAAGAGATGCCAGTGG	0.418																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(697-699)Gat>Tat		poly(A) binding protein, cytoplasmic 5							64.0	66.0	65.0					X																	90691273		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691273G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.697G>T	X.37:g.90691273G>T	ENSP00000308012:p.Asp233Tyr					PABPC5_ENST00000373105.1_Missense_Mutation_p.D69Y	p.D233Y	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	911	+			233			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.697G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864755	0.51482	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	D;D	0.92752	-3.1;-3.1	4.39	3.52	0.40303	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	M	0.90483	3.12	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.95686	0.8736	10	0.87932	D	0	.	9.5365	0.39226	0.1068:0.0:0.8932:0.0	.	233	Q96DU9	PABP5_HUMAN	Y	69;233;201	ENSP00000362197:D69Y;ENSP00000308012:D233Y	ENSP00000308012:D233Y	D	+	1	0	PABPC5	90577929	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	7.416000	0.80143	1.204000	0.43247	0.529000	0.55759	GAT		0.418	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		20	44	1	0	4.96729e-08	1	5.9048e-08	20	44				
KATNAL1	84056	broad.mit.edu	37	13	30829592	30829592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30829592C>A	ENST00000380615.3	-	4	651	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D162Y	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCCTTGTCATCTCTCCCTCTT	0.463																																						ENST00000380615.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19						c.(484-486)Gat>Tat		katanin p60 subunit A-like 1							290.0	276.0	281.0					13																	30829592		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30829592C>A	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.484G>T	13.37:g.30829592C>A	ENSP00000369989:p.Asp162Tyr					KATNAL1_ENST00000380617.3_Missense_Mutation_p.D162Y	p.D162Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	4	651	-		Lung SC(185;0.0257)	162						Missense_Mutation	SNP	ENST00000380615.3	37	c.484G>T	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101341	0.56183	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94376	-3.41;-3.41	5.8	5.8	0.92144	.	0.278704	0.41001	D	0.000963	D	0.90246	0.6950	N	0.19112	0.55	0.80722	D	1	B	0.22541	0.071	B	0.31337	0.128	D	0.85995	0.1491	10	0.59425	D	0.04	-1.1303	20.0544	0.97645	0.0:1.0:0.0:0.0	.	162	Q9BW62	KATL1_HUMAN	Y	162	ENSP00000369989:D162Y;ENSP00000369991:D162Y	ENSP00000369989:D162Y	D	-	1	0	KATNAL1	29727592	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.321000	0.65846	2.741000	0.93983	0.650000	0.86243	GAT		0.463	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		80	165	1	0	6.14238e-36	1	8.26669e-36	80	165				
NFKB1	4790	broad.mit.edu	37	4	103537625	103537625	+	Silent	SNP	C	C	T	rs113109405		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103537625C>T	ENST00000505458.1	+	24	3058	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	NFKB1_ENST00000600343.1_Silent_p.S747S|NFKB1_ENST00000226574.4_Silent_p.S928S|NFKB1_ENST00000394820.4_Silent_p.S927S			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	927	Interaction with CFLAR.			S -> T (in Ref. 1; AAA36361, 3; AAA36360 and 4; CAB94757). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTGCGACAGCGGCGTGGAGA	0.532																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2782-2784)agC>agT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						115.0	112.0	113.0					4																	103537625		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103537625C>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2781C>T	4.37:g.103537625C>T						NFKB1_ENST00000600343.1_Silent_p.S747S|NFKB1_ENST00000505458.1_Silent_p.S927S|NFKB1_ENST00000394820.4_Silent_p.S927S	p.S928S	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	24	3251	+		Hepatocellular(203;0.217)	927			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.2784C>T	CCDS54783.1																																																																																				0.532	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			23	48	0	0	0	1	0	23	48				
ZMAT2	153527	broad.mit.edu	37	5	140085217	140085217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140085217A>G	ENST00000274712.3	+	6	603	c.476A>G	c.(475-477)tAc>tGc	p.Y159C		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	159						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gccaaagcgtacaagaaagag	0.458																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.(475-477)tAc>tGc		zinc finger, matrin-type 2							128.0	112.0	118.0					5																	140085217		2203	4300	6503	SO:0001583	missense	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140085217A>G	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.476A>G	5.37:g.140085217A>G	ENSP00000274712:p.Tyr159Cys						p.Y159C	NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	603	+			159						Missense_Mutation	SNP	ENST00000274712.3	37	c.476A>G	CCDS4239.1	.	.	.	.	.	.	.	.	.	.	a	19.71	3.877570	0.72294	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.61	5.61	0.85477	.	0.053817	0.85682	D	0.000000	T	0.79082	0.4386	M	0.86651	2.83	0.80722	D	1	D	0.69078	0.997	P	0.59825	0.864	T	0.80645	-0.1290	9	0.38643	T	0.18	-1.1874	16.1405	0.81519	1.0:0.0:0.0:0.0	.	159	Q96NC0	ZMAT2_HUMAN	C	159	.	ENSP00000274712:Y159C	Y	+	2	0	ZMAT2	140065401	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.844000	0.92147	2.265000	0.75225	0.529000	0.55759	TAC		0.458	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		5	26	0	0	0	1	0	5	26				
LMNA	4000	broad.mit.edu	37	1	156104987	156104987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156104987G>A	ENST00000368300.4	+	5	1032	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000347559.2_Missense_Mutation_p.A274T|LMNA_ENST00000392353.3_Missense_Mutation_p.A193T|LMNA_ENST00000368297.1_Missense_Mutation_p.A193T|LMNA_ENST00000361308.4_Missense_Mutation_p.A274T|LMNA_ENST00000368299.3_Missense_Mutation_p.A274T|LMNA_ENST00000473598.2_Missense_Mutation_p.A175T|LMNA_ENST00000368301.2_Missense_Mutation_p.A274T|LMNA_ENST00000448611.2_Missense_Mutation_p.A162T	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	274	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTGGACAATGCCAGGCAGTC	0.637									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(820-822)Gcc>Acc		lamin A/C							57.0	57.0	57.0					1																	156104987		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156104987G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.820G>A	1.37:g.156104987G>A	ENSP00000357283:p.Ala274Thr					LMNA_ENST00000448611.2_Missense_Mutation_p.A162T|LMNA_ENST00000347559.2_Missense_Mutation_p.A274T|LMNA_ENST00000368299.3_Missense_Mutation_p.A274T|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Missense_Mutation_p.A193T|LMNA_ENST00000473598.2_Missense_Mutation_p.A175T|LMNA_ENST00000392353.3_Missense_Mutation_p.A193T|LMNA_ENST00000361308.4_Missense_Mutation_p.A274T|LMNA_ENST00000368301.2_Missense_Mutation_p.A274T	p.A274T	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			5	1032	+	Hepatocellular(266;0.158)		274			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.820G>A	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429078	0.96131	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.3	5.3	0.74995	Filament (1);	0.000000	0.53938	D	0.000051	D	0.93507	0.7928	M	0.84082	2.675	0.80722	D	1	D;D;D;D;P;P;D	0.58620	0.977;0.97;0.975;0.983;0.938;0.863;0.963	P;P;P;D;P;P;P	0.64410	0.893;0.9;0.893;0.925;0.867;0.666;0.839	D	0.93234	0.6620	10	0.51188	T	0.08	.	16.8103	0.85717	0.0:0.0:1.0:0.0	.	162;274;175;193;274;274;274	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	T	274;274;274;274;274;274;274;162;193;175;193	ENSP00000357284:A274T;ENSP00000292304:A274T;ENSP00000355292:A274T;ENSP00000357283:A274T;ENSP00000357282:A274T;ENSP00000395597:A162T;ENSP00000357280:A193T;ENSP00000421821:A175T;ENSP00000376164:A193T	ENSP00000292302:A274T	A	+	1	0	LMNA	154371611	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	6.646000	0.74348	2.653000	0.90120	0.563000	0.77884	GCC		0.637	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		6	64	0	0	0	1	0	6	64				
ITPK1	3705	broad.mit.edu	37	14	93408082	93408082	+	Missense_Mutation	SNP	C	C	T	rs561937783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93408082C>T	ENST00000267615.6	-	11	1242	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	ITPK1_ENST00000555495.1_Missense_Mutation_p.A238T|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Missense_Mutation_p.A357T			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	357					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCGGGGCTGGCGCTGCATGTC	0.736																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1069-1071)Gcc>Acc		inositol-tetrakisphosphate 1-kinase							5.0	6.0	6.0					14																	93408082		2015	3918	5933	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93408082C>T	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.1069G>A	14.37:g.93408082C>T	ENSP00000267615:p.Ala357Thr					ITPK1_ENST00000555495.1_Missense_Mutation_p.A238T|ITPK1_ENST00000556603.2_Missense_Mutation_p.A357T|ITPK1_ENST00000354313.3_Intron	p.A357T			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	11	1242	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	357					Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.1069G>A	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.046475	0.36085	.	.	ENSG00000100605	ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615	.	.	.	4.79	2.64	0.31445	.	0.295925	0.36703	N	0.002449	T	0.30479	0.0766	N	0.15975	0.35	0.37569	D	0.919352	B	0.14438	0.01	B	0.08055	0.003	T	0.19943	-1.0290	9	0.31617	T	0.26	-14.5118	8.3895	0.32520	0.0:0.7428:0.1609:0.0964	.	357	Q13572	ITPK1_HUMAN	T	387;357;238;357	.	ENSP00000267615:A357T	A	-	1	0	ITPK1	92477835	0.998000	0.40836	1.000000	0.80357	0.485000	0.33311	0.626000	0.24492	2.221000	0.72209	0.563000	0.77884	GCC		0.736	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		4	4	0	0	0	1	0	4	4				
PDE4DIP	9659	broad.mit.edu	37	1	144904624	144904624	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144904624C>A	ENST00000369354.3	-	20	2877		c.e20+1		PDE4DIP_ENST00000369359.4_Splice_Site|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000529945.1_Splice_Site|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000479408.2_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTCTCTTACCTCTCTGGAT	0.373			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.e16+1		phosphodiesterase 4D interacting protein							150.0	154.0	153.0					1																	144904624		2203	4296	6499	SO:0001630	splice_region_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144904624C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2687+1G>T	1.37:g.144904624C>A						PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000479408.2_Splice_Site|PDE4DIP_ENST00000369359.4_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site				Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	16	3616	-								A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site	SNP	ENST00000369354.3	37		CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	18.35	3.604576	0.66445	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000491426;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9498	0.89048	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE4DIP	143615981	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.166000	0.64965	2.843000	0.97960	0.650000	0.86243	.		0.373	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Intron	9	194	1	0	0.00448238	1	0.00472561	9	194				
GIMAP4	55303	broad.mit.edu	37	7	150269743	150269743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150269743C>T	ENST00000255945.2	+	3	760	c.585C>T	c.(583-585)ggC>ggT	p.G195G	GIMAP4_ENST00000461940.1_Silent_p.G209G|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	195	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCAACAGGCGCTGAGCAGG	0.522																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(583-585)ggC>ggT		GTPase, IMAP family member 4							96.0	96.0	96.0					7																	150269743		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269743C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.585C>T	7.37:g.150269743C>T						GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.G209G	p.G195G	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	760	+			195						Silent	SNP	ENST00000255945.2	37	c.585C>T	CCDS5904.1																																																																																				0.522	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		35	99	0	0	0	1	0	35	99				
CCP110	9738	broad.mit.edu	37	16	19543863	19543863	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19543863T>C	ENST00000381396.5	+	3	514	c.267T>C	c.(265-267)gtT>gtC	p.V89V	CCP110_ENST00000396208.2_Silent_p.V89V|CCP110_ENST00000396212.2_Silent_p.V89V	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	89	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTGACAATGTTCAGGTGTGTG	0.333																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(265-267)gtT>gtC		centriolar coiled coil protein 110kDa							103.0	98.0	100.0					16																	19543863		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19543863T>C	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.267T>C	16.37:g.19543863T>C						CCP110_ENST00000396208.2_Silent_p.V89V|CCP110_ENST00000381396.5_Silent_p.V89V	p.V89V	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			4	703	+			89			CEP97 binding.		B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.267T>C	CCDS55992.1																																																																																				0.333	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		7	88	0	0	0	1	0	7	88				
CDKN2B	1030	broad.mit.edu	37	9	22006082	22006082	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:22006082G>A	ENST00000276925.6	-	2	730	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	107					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CATCGCGCACGTCCAGCCGCG	0.731																																						ENST00000276925.6																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	lung(2)	2						c.(319-321)gaC>gaT		cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)							15.0	18.0	17.0					9																	22006082		2188	4277	6465	SO:0001819	synonymous_variant	1030				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006082G>A	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.321C>T	9.37:g.22006082G>A						RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA	p.D107D	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	730	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	107					O15125|Q6FI09	Silent	SNP	ENST00000276925.6	37	c.321C>T	CCDS6512.1																																																																																				0.731	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		11	9	0	0	0	1	0	11	9				
MUC16	94025	broad.mit.edu	37	19	9088125	9088125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9088125C>A	ENST00000397910.4	-	1	3893	c.3690G>T	c.(3688-3690)gaG>gaT	p.E1230D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1230	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTGATGCCTCCAATGATG	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3688-3690)gaG>gaT		mucin 16, cell surface associated							294.0	288.0	290.0					19																	9088125		2089	4227	6316	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088125C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3690G>T	19.37:g.9088125C>A	ENSP00000381008:p.Glu1230Asp						p.E1230D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3893	-			1230			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3690G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.328	-0.137295	0.06711	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.38	-0.965	0.10323	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.44513	-0.9323	8	0.87932	D	0	.	3.8775	0.09062	0.0:0.5128:0.0:0.4872	.	1230	B5ME49	.	D	1230	ENSP00000381008:E1230D	ENSP00000381008:E1230D	E	-	3	2	MUC16	8949125	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.985000	0.03751	-0.241000	0.09681	0.305000	0.20034	GAG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	296	1	0	5.3912e-06	1	6.15692e-06	18	296				
GARNL3	84253	broad.mit.edu	37	9	130083004	130083004	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130083004C>A	ENST00000373387.4	+	6	866	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	GARNL3_ENST00000314904.5_Missense_Mutation_p.L172M|GARNL3_ENST00000435213.2_Missense_Mutation_p.L150M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	172					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGCCATGAATCTGGACAAATT	0.378																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(514-516)Ctg>Atg		GTPase activating Rap/RanGAP domain-like 3							53.0	53.0	53.0					9																	130083004		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130083004C>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.514C>A	9.37:g.130083004C>A	ENSP00000362485:p.Leu172Met					GARNL3_ENST00000314904.5_Missense_Mutation_p.L172M|GARNL3_ENST00000435213.2_Missense_Mutation_p.L150M	p.L172M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			6	866	+			172					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.514C>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550335	0.27739	.	.	ENSG00000136895	ENST00000439286;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.63	5.63	0.86233	.	0.255560	0.39210	N	0.001435	D	0.85588	0.5731	N	0.11560	0.145	0.39087	D	0.961029	B;B	0.27117	0.168;0.168	B;B	0.20184	0.018;0.028	T	0.82631	-0.0362	9	.	.	.	.	17.539	0.87842	0.0:1.0:0.0:0.0	.	172;150	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	M	195;195;150;150;172;172	ENSP00000400579:L195M;ENSP00000411329:L150M;ENSP00000396205:L150M;ENSP00000313970:L172M;ENSP00000362485:L172M	.	L	+	1	2	GARNL3	129122825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.616000	0.46376	2.798000	0.96311	0.655000	0.94253	CTG		0.378	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		8	23	1	0	0.000274275	1	0.000298791	8	23				
NLRP1	22861	broad.mit.edu	37	17	5487182	5487182	+	Silent	SNP	C	C	T	rs200225132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5487182C>T	ENST00000572272.1	-	1	95	c.96G>A	c.(94-96)gcG>gcA	p.A32A	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Silent_p.A32A|NLRP1_ENST00000354411.3_Silent_p.A32A|NLRP1_ENST00000577119.1_Silent_p.A32A|NLRP1_ENST00000269280.4_Silent_p.A32A|NLRP1_ENST00000262467.5_Silent_p.A32A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	32	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTGGAGTGCGCTTTATTGG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17865	0.0		0.001	False		,,,				2504	0.0					ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(94-96)gcG>gcA		NLR family, pyrin domain containing 1		C	,,,,	1,4399		0,1,2199	31.0	28.0	29.0		96,96,96,96,96	-7.6	0.0	17		29	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	,,,,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,	32/1376,32/1430,32/1474,32/1444,32/1400	5487182	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5487182C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.96G>A	17.37:g.5487182C>T						NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.A32A|NLRP1_ENST00000269280.4_Silent_p.A32A|NLRP1_ENST00000572272.1_Silent_p.A32A|NLRP1_ENST00000577119.1_Silent_p.A32A|NLRP1_ENST00000262467.5_Silent_p.A32A	p.A32A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			1	650	-		Colorectal(1115;3.48e-05)	32			DAPIN.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.96G>A	CCDS42246.1																																																																																				0.617	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		9	7	0	0	0	1	0	9	7				
DENND5A	23258	broad.mit.edu	37	11	9225588	9225588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9225588G>A	ENST00000328194.3	-	4	888	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	DENND5A_ENST00000530044.1_Missense_Mutation_p.R190C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	190					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGTTGAAGCGCTGCAGTTTG	0.522																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(568-570)Cgc>Tgc		DENN/MADD domain containing 5A							191.0	155.0	167.0					11																	9225588		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9225588G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.568C>T	11.37:g.9225588G>A	ENSP00000328524:p.Arg190Cys					DENND5A_ENST00000530044.1_Missense_Mutation_p.R190C	p.R190C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	888	-			190					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.568C>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478340	0.63849	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.04502	3.61;3.61	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	M	0.74258	2.255	0.80722	D	1	B;B	0.21071	0.051;0.005	B;B	0.11329	0.006;0.005	T	0.03619	-1.1019	10	0.46703	T	0.11	.	19.5024	0.95100	0.0:0.0:1.0:0.0	.	190;190	E9PS91;Q6IQ26	.;DEN5A_HUMAN	C	190	ENSP00000328524:R190C;ENSP00000435866:R190C	ENSP00000328524:R190C	R	-	1	0	DENND5A	9182164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.607000	0.88179	0.655000	0.94253	CGC		0.522	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		18	35	0	0	0	1	0	18	35				
FGD5	152273	broad.mit.edu	37	3	14862981	14862981	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14862981G>A	ENST00000285046.5	+	1	2513	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FGD5_ENST00000543601.1_Silent_p.T560T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	801					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCGCGTTCACGAAGCTGTTTG	0.522																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2401-2403)acG>acA		FYVE, RhoGEF and PH domain containing 5							86.0	90.0	89.0					3																	14862981		2076	4234	6310	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862981G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2403G>A	3.37:g.14862981G>A						FGD5_ENST00000543601.1_Silent_p.T560T	p.T801T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2513	+			801					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2403G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	5.225	0.227090	0.09916	.	.	ENSG00000154783	ENST00000457774	.	.	.	5.03	-7.79	0.01218	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	-25.8753	1.4612	0.02396	0.3217:0.3005:0.2279:0.1499	.	.	.	.	K	15	.	.	E	+	1	0	FGD5	14837985	0.000000	0.05858	0.775000	0.31657	0.710000	0.40934	-5.607000	0.00110	-1.205000	0.02645	-0.229000	0.12294	GAA		0.522	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		43	78	0	0	0	1	0	43	78				
MYH7	4625	broad.mit.edu	37	14	23897873	23897873	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23897873T>C	ENST00000355349.3	-	15	1576	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	472	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTCAAAGCTGTTGAACTGC	0.582																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1414-1416)Agc>Ggc		myosin, heavy chain 7, cardiac muscle, beta							73.0	60.0	65.0					14																	23897873		2203	4297	6500	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23897873T>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1414A>G	14.37:g.23897873T>C	ENSP00000347507:p.Ser472Gly						p.S472G	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	15	1576	-	all_cancers(95;2.54e-05)		472			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1414A>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068698	0.76301	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90444	-2.67	4.24	4.24	0.50183	Myosin head, motor domain (3);	.	.	.	.	D	0.92283	0.7552	M	0.76938	2.355	0.58432	D	0.999996	B	0.33494	0.414	P	0.44772	0.46	D	0.91066	0.4889	9	0.33940	T	0.23	.	13.4988	0.61442	0.0:0.0:0.0:1.0	.	472	P12883	MYH7_HUMAN	G	472	ENSP00000347507:S472G	ENSP00000347507:S472G	S	-	1	0	MYH7	22967713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.736000	0.68597	1.787000	0.52448	0.460000	0.39030	AGC		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		11	17	0	0	0	1	0	11	17				
SFR1	119392	broad.mit.edu	37	10	105883608	105883608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105883608C>T	ENST00000369727.3	+	3	291	c.272C>T	c.(271-273)aCa>aTa	p.T91I	SFR1_ENST00000336358.5_Missense_Mutation_p.T153I|SFR1_ENST00000369729.3_Missense_Mutation_p.T78I	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	91					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GCATCTTCCACAGAGGAAAAC	0.308																																						ENST00000336358.5																			0											c.(457-459)aCa>aTa		SWI5-dependent recombination repair 1							58.0	66.0	63.0					10																	105883608		2200	4298	6498	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105883608C>T	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.272C>T	10.37:g.105883608C>T	ENSP00000358742:p.Thr91Ile					SFR1_ENST00000369729.3_Missense_Mutation_p.T78I|SFR1_ENST00000369727.3_Missense_Mutation_p.T91I	p.T153I			Q86XK3	SFR1_HUMAN			2	977	+			91					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.458C>T	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	C	8.187	0.795110	0.16327	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.46819	0.91;0.91;0.86	5.72	-0.622	0.11560	.	1.082060	0.06920	N	0.809139	T	0.32615	0.0835	L	0.34521	1.04	0.09310	N	1	B;B	0.27700	0.186;0.007	B;B	0.22880	0.042;0.018	T	0.18777	-1.0326	10	0.28530	T	0.3	0.2277	6.42	0.21738	0.1134:0.5807:0.0:0.3059	.	153;91	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	I	78;91;153	ENSP00000358744:T78I;ENSP00000358742:T91I;ENSP00000338089:T153I	ENSP00000338089:T153I	T	+	2	0	SFR1	105873598	0.000000	0.05858	0.007000	0.13788	0.997000	0.91878	-1.062000	0.03468	-0.288000	0.09051	0.655000	0.94253	ACA		0.308	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		36	47	0	0	0	1	0	36	47				
CENPT	80152	broad.mit.edu	37	16	67860697	67860697	+	IGR	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67860697T>G	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.F448V|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F502V|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.F433V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TATCAAGATCTTCCACTCCAA	0.488																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(1342-1344)Ttc>Gtc		translin-associated factor X interacting protein 1							118.0	126.0	123.0					16																	67860697		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67860697T>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67860697T>G						TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F502V|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.F433V	p.F448V	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	12	1719	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	448					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.1342T>G	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746930	0.30955	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.87	3.55	0.40652	.	0.350752	0.30999	N	0.008458	T	0.51244	0.1663	M	0.62723	1.935	0.22819	N	0.998696	D;D;D;D;D;D	0.63880	0.988;0.988;0.975;0.993;0.975;0.988	P;P;P;P;P;P	0.60886	0.794;0.736;0.736;0.88;0.736;0.794	T	0.39272	-0.9622	9	0.37606	T	0.19	-7.0277	6.1517	0.20316	0.1421:0.0772:0.0:0.7806	.	433;502;238;156;448;433	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	V	433;448;238	.	ENSP00000373485:F448V	F	+	1	0	TSNAXIP1	66418198	0.932000	0.31603	0.435000	0.26784	0.135000	0.20990	2.888000	0.48594	0.437000	0.26423	0.533000	0.62120	TTC		0.488	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		12	165	0	0	0	1	0	12	165				
ZNF3	7551	broad.mit.edu	37	7	99669446	99669446	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669446T>G	ENST00000424697.1	-	6	967	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	ZNF3_ENST00000299667.4_Missense_Mutation_p.I221L|ZNF3_ENST00000303915.6_Missense_Mutation_p.I221L|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	221					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.I221V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCAGTGTGGATTCTCTGATGT	0.463																																						ENST00000303915.6																			1	Substitution - Missense(1)	p.I221V(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(661-663)Atc>Ctc		zinc finger protein 3							72.0	80.0	77.0					7																	99669446		2200	4296	6496	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669446T>G	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.661A>C	7.37:g.99669446T>G	ENSP00000415358:p.Ile221Leu					ZNF3_ENST00000424697.1_Missense_Mutation_p.I221L|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.I221L	p.I221L			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1628	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	221					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.661A>C	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301959	0.60195	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000048	T	0.15912	0.0383	L	0.28014	0.82	0.34180	D	0.670828	D;B	0.57899	0.981;0.437	D;B	0.70716	0.97;0.268	T	0.13282	-1.0515	10	0.49607	T	0.09	-26.6288	12.2643	0.54668	0.0:0.0:0.0:1.0	.	204;221	B3KRP4;P17036	.;ZNF3_HUMAN	L	221	ENSP00000415358:I221L;ENSP00000306372:I221L;ENSP00000299667:I221L	ENSP00000299667:I221L	I	-	1	0	ZNF3	99507382	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	0.993000	0.29680	2.075000	0.62263	0.533000	0.62120	ATC		0.463	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		6	103	0	0	0	1	0	6	103				
MN1	4330	broad.mit.edu	37	22	28193520	28193520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193520C>T	ENST00000302326.4	-	1	3966	c.3012G>A	c.(3010-3012)gcG>gcA	p.A1004A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1004					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGACGTGAGCGCCTTTTCGT	0.701			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(3010-3012)gcG>gcA		meningioma (disrupted in balanced translocation) 1							26.0	30.0	29.0					22																	28193520		1998	4143	6141	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193520C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3012G>A	22.37:g.28193520C>T							p.A1004A	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3966	-			1004					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3012G>A	CCDS42998.1																																																																																				0.701	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		18	27	0	0	0	1	0	18	27				
ZMAT3	64393	broad.mit.edu	37	3	178745246	178745246	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178745246T>C	ENST00000311417.2	-	5	1364	c.623A>G	c.(622-624)aAc>aGc	p.N208S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.N208S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATTTCTCCTGTTAGGCATCAT	0.403																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(622-624)aAc>aGc		zinc finger, matrin-type 3							119.0	121.0	120.0					3																	178745246		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178745246T>C	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.623A>G	3.37:g.178745246T>C	ENSP00000311221:p.Asn208Ser					ZMAT3_ENST00000432729.1_Missense_Mutation_p.N208S	p.N208S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		5	1364	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		208						Missense_Mutation	SNP	ENST00000311417.2	37	c.623A>G	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820116	0.16678	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.46819	0.86;0.88	5.61	1.73	0.24493	.	1.511620	0.03735	N	0.254116	T	0.32010	0.0815	N	0.17082	0.46	0.33892	D	0.637429	B;B	0.12630	0.006;0.005	B;B	0.18263	0.005;0.021	T	0.32268	-0.9913	10	0.10111	T	0.7	-51.5572	8.7767	0.34767	0.1193:0.0:0.429:0.4517	.	208;208	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	S	208	ENSP00000311221:N208S;ENSP00000396506:N208S	ENSP00000311221:N208S	N	-	2	0	ZMAT3	180227940	1.000000	0.71417	0.876000	0.34364	0.987000	0.75469	1.467000	0.35321	0.048000	0.15891	-0.331000	0.08364	AAC		0.403	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		21	37	0	0	0	1	0	21	37				
PCSK4	54760	broad.mit.edu	37	19	1486973	1486973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1486973C>A	ENST00000300954.5	-	8	1008	c.947G>T	c.(946-948)aGc>aTc	p.S316I	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGATGCTGTTGGTGTA	0.682																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(946-948)aGc>aTc		proprotein convertase subtilisin/kexin type 4							93.0	76.0	82.0					19																	1486973		2203	4300	6503	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1486973C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.947G>T	19.37:g.1486973C>A	ENSP00000300954:p.Ser316Ile						p.S316I	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1008	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	316			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.947G>T	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055949	0.55325	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.89485	-2.52	2.92	2.92	0.33932	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.64402	U	0.000014	D	0.95809	0.8636	H	0.96111	3.77	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96523	0.9387	10	0.87932	D	0	.	12.6725	0.56874	0.0:1.0:0.0:0.0	.	316;128	Q6UW60;B3KQ28	PCSK4_HUMAN;.	I	316;128	ENSP00000300954:S316I	ENSP00000300954:S316I	S	-	2	0	PCSK4	1437973	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	7.604000	0.82830	1.342000	0.45619	0.313000	0.20887	AGC		0.682	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		6	60	1	0	0.0293803	1	0.0301098	6	60				
THAP9	79725	broad.mit.edu	37	4	83838258	83838258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83838258G>T	ENST00000302236.5	+	5	944	c.893G>T	c.(892-894)aGt>aTt	p.S298I	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	298					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGCAGTCACAGTTTGCAGGGG	0.418																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(892-894)aGt>aTt		THAP domain containing 9							137.0	128.0	131.0					4																	83838258		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83838258G>T	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.893G>T	4.37:g.83838258G>T	ENSP00000305533:p.Ser298Ile					LIN54_ENST00000505905.1_Intron	p.S298I	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	944	+		Hepatocellular(203;0.114)	298					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.893G>T	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	4.335	0.061631	0.08339	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.32988	1.43	3.7	2.7	0.31948	.	1.057180	0.07526	N	0.911357	T	0.15998	0.0385	N	0.08118	0	0.40887	D	0.98404	B	0.28512	0.214	B	0.28784	0.094	T	0.13045	-1.0524	10	0.42905	T	0.14	1.0124	4.6908	0.12780	0.5254:0.0:0.4746:0.0	.	298	Q9H5L6	THAP9_HUMAN	I	298	ENSP00000305533:S298I	ENSP00000305533:S298I	S	+	2	0	THAP9	84057282	0.000000	0.05858	0.978000	0.43139	0.185000	0.23345	0.004000	0.13106	0.948000	0.37687	0.650000	0.86243	AGT		0.418	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		42	87	1	0	2.58029e-29	1	3.4529e-29	42	87				
CYSLTR2	57105	broad.mit.edu	37	13	49281518	49281518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49281518G>T	ENST00000282018.3	+	1	568	c.565G>T	c.(565-567)Gag>Tag	p.E189*		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	189					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATCATGCTTAGAGCTGAATCT	0.468																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(565-567)Gag>Tag		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						124.0	118.0	120.0					13																	49281518		2203	4300	6503	SO:0001587	stop_gained	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281518G>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.565G>T	13.37:g.49281518G>T	ENSP00000282018:p.Glu189*						p.E189*	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	568	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	189					Q9HCQ2	Nonsense_Mutation	SNP	ENST00000282018.3	37	c.565G>T	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065061	0.76187	.	.	ENSG00000152207	ENST00000282018	.	.	.	5.89	5.05	0.67936	.	0.176504	0.34291	N	0.004096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.891	0.63738	0.0724:0.0:0.9276:0.0	.	.	.	.	X	189	.	ENSP00000282018:E189X	E	+	1	0	CYSLTR2	48179519	1.000000	0.71417	0.078000	0.20375	0.364000	0.29643	5.741000	0.68638	1.503000	0.48686	0.655000	0.94253	GAG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			9	107	1	0	1.12685e-05	1	1.27857e-05	9	107				
NFATC4	4776	broad.mit.edu	37	14	24839159	24839159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839159C>T	ENST00000250373.4	+	2	696	c.555C>T	c.(553-555)gcC>gcT	p.A185A	NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000424781.2_Silent_p.A198A|NFATC4_ENST00000557451.1_Silent_p.A115A|NFATC4_ENST00000556279.1_Silent_p.A217A|NFATC4_ENST00000554050.1_Silent_p.A185A|NFATC4_ENST00000539237.2_Silent_p.A217A|NFATC4_ENST00000554661.1_Silent_p.A115A|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000553708.1_Silent_p.A185A|NFATC4_ENST00000554591.1_Silent_p.A248A|NFATC4_ENST00000555590.1_Silent_p.A198A|NFATC4_ENST00000555453.1_Silent_p.A173A|NFATC4_ENST00000422617.3_Silent_p.A173A|NFATC4_ENST00000553879.1_Silent_p.A115A|NFATC4_ENST00000556169.1_Silent_p.A173A|NFATC4_ENST00000554344.1_Silent_p.A115A|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000413692.2_Silent_p.A248A|NFATC4_ENST00000553469.1_Silent_p.A217A|NFATC4_ENST00000554966.1_Silent_p.A198A	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	185	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCCGATGCCTCTGACGAGG	0.672																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(742-744)gcC>gcT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							23.0	25.0	24.0					14																	24839159		2160	4266	6426	SO:0001819	synonymous_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839159C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.555C>T	14.37:g.24839159C>T						NFATC4_ENST00000422617.3_Silent_p.A173A|NFATC4_ENST00000553879.1_Silent_p.A115A|NFATC4_ENST00000554591.1_Silent_p.A248A|NFATC4_ENST00000554966.1_Silent_p.A198A|NFATC4_ENST00000555590.1_Silent_p.A198A|NFATC4_ENST00000424781.2_Silent_p.A198A|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.A217A|NFATC4_ENST00000553708.1_Silent_p.A185A|NFATC4_ENST00000554050.1_Silent_p.A185A|NFATC4_ENST00000539237.2_Silent_p.A217A|NFATC4_ENST00000554661.1_Silent_p.A115A|NFATC4_ENST00000250373.4_Silent_p.A185A|NFATC4_ENST00000554344.1_Silent_p.A115A|NFATC4_ENST00000555453.1_Silent_p.A173A|NFATC4_ENST00000556169.1_Silent_p.A173A|NFATC4_ENST00000556279.1_Silent_p.A217A|NFATC4_ENST00000557451.1_Silent_p.A115A	p.A248A	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	888	+			185			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	c.744C>T	CCDS9629.1																																																																																				0.672	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		10	17	0	0	0	1	0	10	17				
GPR39	2863	broad.mit.edu	37	2	133174975	133174975	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133174975C>T	ENST00000329321.3	+	1	829	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	120					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCAGCTACGCTACGCTGC	0.577																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(358-360)taC>taT		G protein-coupled receptor 39							137.0	123.0	128.0					2																	133174975		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174975C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.360C>T	2.37:g.133174975C>T							p.Y120Y	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			1	829	+			120					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.360C>T	CCDS2170.1																																																																																				0.577	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			15	18	0	0	0	1	0	15	18				
TNKS2	80351	broad.mit.edu	37	10	93619382	93619382	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93619382C>T	ENST00000371627.4	+	25	3637	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1086	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTCACAAAGACAGATCTTGTT	0.373																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(3256-3258)gaC>gaT		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							118.0	113.0	115.0					10																	93619382		2203	4300	6503	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93619382C>T	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3258C>T	10.37:g.93619382C>T							p.D1086D	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			25	3637	+		Colorectal(252;0.162)	1086			PARP catalytic.		B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.3258C>T	CCDS7417.1																																																																																				0.373	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		17	43	0	0	0	1	0	17	43				
CCDC148	130940	broad.mit.edu	37	2	159195527	159195527	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159195527T>G	ENST00000283233.5	-	6	870	c.557A>C	c.(556-558)aAt>aCt	p.N186T	CCDC148_ENST00000536771.1_Missense_Mutation_p.N100T|CCDC148_ENST00000409889.1_Missense_Mutation_p.N186T|CCDC148_ENST00000409187.1_Missense_Mutation_p.N195T	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	186										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAAGATCATTTTCTATTCT	0.313																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(556-558)aAt>aCt		coiled-coil domain containing 148							128.0	128.0	128.0					2																	159195527		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159195527T>G		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.557A>C	2.37:g.159195527T>G	ENSP00000283233:p.Asn186Thr					CCDC148_ENST00000409187.1_Missense_Mutation_p.N195T|CCDC148_ENST00000409889.1_Missense_Mutation_p.N186T|CCDC148_ENST00000536771.1_Missense_Mutation_p.N100T	p.N186T	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			6	870	-			186					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.557A>C	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	7.479	0.648348	0.14516	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.30448	1.96;1.96;1.53;1.53	5.98	3.62	0.41486	.	.	.	.	.	T	0.27594	0.0678	L	0.60455	1.87	0.09310	N	1	P;P;P;B;B	0.51933	0.763;0.949;0.949;0.001;0.001	B;B;B;B;B	0.43301	0.288;0.415;0.415;0.002;0.005	T	0.10753	-1.0616	9	0.20046	T	0.44	-0.7889	6.081	0.19940	0.0:0.0843:0.1808:0.7349	.	100;34;34;195;186	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	T	186;34;195;100;186	ENSP00000283233:N186T;ENSP00000386674:N195T;ENSP00000443740:N100T;ENSP00000386583:N186T	ENSP00000283233:N186T	N	-	2	0	CCDC148	158903773	0.908000	0.30866	0.260000	0.24451	0.961000	0.63080	1.483000	0.35497	0.513000	0.28278	0.528000	0.53228	AAT		0.313	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		12	101	0	0	0	1	0	12	101				
ATP12A	479	broad.mit.edu	37	13	25276209	25276209	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25276209G>A	ENST00000381946.3	+	14	2185	c.2018G>A	c.(2017-2019)cGg>cAg	p.R673Q	ATP12A_ENST00000218548.6_Splice_Site_p.R679Q|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	673					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GTTAACAAACGGTAAGCACAG	0.458																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.e14+1		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						140.0	117.0	125.0					13																	25276209		2203	4300	6503	SO:0001630	splice_region_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25276209G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2018+1G>A	13.37:g.25276209G>A						ATP12A_ENST00000381946.3_Splice_Site_p.R673_splice	p.R679_splice	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	14	2369	+		Lung SC(185;0.0225)|Breast(139;0.077)	673					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	37	c.2036_splice	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676857	0.47886	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.93604	-3.25;-3.24	5.25	0.614	0.17603	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.500539	0.18165	N	0.149655	D	0.87954	0.6308	L	0.41824	1.3	0.51767	D	0.999934	B;B	0.21309	0.054;0.051	B;B	0.09377	0.004;0.003	T	0.79027	-0.1971	10	0.62326	D	0.03	.	9.0943	0.36629	0.3833:0.0:0.6167:0.0	.	679;673	P54707-2;P54707	.;AT12A_HUMAN	Q	679;673	ENSP00000218548:R679Q;ENSP00000371372:R673Q	ENSP00000218548:R679Q	R	+	2	0	ATP12A	24174209	0.998000	0.40836	0.003000	0.11579	0.060000	0.15804	2.180000	0.42537	-0.136000	0.11475	-0.363000	0.07495	CGG		0.458	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	Missense_Mutation	21	31	0	0	0	1	0	21	31				
DNPEP	23549	broad.mit.edu	37	2	220251124	220251124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251124G>A	ENST00000273075.4	-	5	563	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	DNPEP_ENST00000523282.1_Missense_Mutation_p.R123W|AC053503.4_ENST00000420563.1_RNA|DNPEP_ENST00000373972.1_Missense_Mutation_p.R40W	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	105					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGAGACCGACGTTTCACC	0.527																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(343-345)Cgg>Tgg		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						80.0	85.0	83.0					2																	220251124		2089	4226	6315	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251124G>A		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.343C>T	2.37:g.220251124G>A	ENSP00000273075:p.Arg115Trp					DNPEP_ENST00000373972.1_Missense_Mutation_p.R40W|DNPEP_ENST00000523282.1_Missense_Mutation_p.R123W	p.R115W	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	563	-		Renal(207;0.0474)	105					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.343C>T	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900560	0.72754	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206	.	.	.	5.25	1.91	0.25777	Peptidase M18, domain 2 (1);	0.229719	0.38548	N	0.001656	T	0.76343	0.3974	M	0.86953	2.85	0.53688	D	0.999976	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.995;0.998	P;P;P;P;P	0.62184	0.687;0.888;0.886;0.899;0.78	T	0.77611	-0.2523	9	0.66056	D	0.02	-5.241	9.6977	0.40167	0.0707:0.0:0.5509:0.3784	.	123;115;123;105;115	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	W	115;115;40;123;123;101;115;115;40;40	.	ENSP00000273075:R115W	R	-	1	2	DNPEP	219959368	0.414000	0.25408	0.993000	0.49108	0.988000	0.76386	0.990000	0.29642	0.528000	0.28580	0.561000	0.74099	CGG		0.527	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		31	46	0	0	0	1	0	31	46				
TCTN2	79867	broad.mit.edu	37	12	124171495	124171495	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171495G>A	ENST00000303372.5	+	6	805	c.677G>A	c.(676-678)cGt>cAt	p.R226H	TCTN2_ENST00000426174.2_Missense_Mutation_p.R225H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	226					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACGACGACACGTGGTGTCCCC	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(676-678)cGt>cAt		tectonic family member 2							326.0	281.0	296.0					12																	124171495		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171495G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.677G>A	12.37:g.124171495G>A	ENSP00000304941:p.Arg226His					TCTN2_ENST00000426174.2_Missense_Mutation_p.R225H	p.R226H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	805	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		226					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.677G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873087	0.33069	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81739	-1.53;-1.53	5.92	-11.8	0.00035	Domain of unknown function DUF1619 (1);	3.732530	0.00678	N	0.000672	T	0.48466	0.1501	N	0.02736	-0.51	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.47636	-0.9102	10	0.12103	T	0.63	0.4793	4.0412	0.09751	0.3537:0.2507:0.3184:0.0772	.	225;226	A8K7Y8;Q96GX1	.;TECT2_HUMAN	H	225;226	ENSP00000395171:R225H;ENSP00000304941:R226H	ENSP00000304941:R226H	R	+	2	0	TCTN2	122737448	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.573000	0.02134	-3.026000	0.00268	-1.052000	0.02337	CGT		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		87	136	0	0	0	1	0	87	136				
RAB40AL	282808	broad.mit.edu	37	X	102192955	102192955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192955C>T	ENST00000218249.5	+	1	756	c.709C>T	c.(709-711)Cga>Tga	p.R237*	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	237					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R237*(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CAGGATGATGCGAGGCCTCTC	0.572																																						ENST00000218249.5																			2	Substitution - Nonsense(2)	p.R237*(2)	endometrium(2)	endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						c.(709-711)Cga>Tga		RAB40A, member RAS oncogene family-like							136.0	119.0	125.0					X																	102192955		2203	4300	6503	SO:0001587	stop_gained	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192955C>T	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.709C>T	X.37:g.102192955C>T	ENSP00000218249:p.Arg237*					LL0XNC01-237H1.3_ENST00000413528.1_RNA	p.R237*	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN			1	756	+			237					Q495H3	Nonsense_Mutation	SNP	ENST00000218249.5	37	c.709C>T	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.158236	0.78114	.	.	ENSG00000102128	ENST00000218249	.	.	.	0.819	0.819	0.18785	.	0.150621	0.24377	U	0.039052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.2459	0.26121	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	237	.	ENSP00000218249:R237X	R	+	1	2	RAB40AL	102079611	1.000000	0.71417	0.846000	0.33378	0.552000	0.35366	5.305000	0.65750	0.682000	0.31407	0.462000	0.41574	CGA		0.572	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		59	99	0	0	0	1	0	59	99				
ADAM22	53616	broad.mit.edu	37	7	87795162	87795162	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87795162C>T	ENST00000265727.7	+	24	2171	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	ADAM22_ENST00000398204.4_Silent_p.L698L|ADAM22_ENST00000398209.3_Silent_p.L698L|ADAM22_ENST00000398201.4_Silent_p.L698L|ADAM22_ENST00000315984.7_Silent_p.L698L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	698	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTAATGAGCTGAAGTGTGT	0.378																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2092-2094)Ctg>Ttg		ADAM metallopeptidase domain 22							128.0	120.0	123.0					7																	87795162		1902	4116	6018	SO:0001819	synonymous_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87795162C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2092C>T	7.37:g.87795162C>T						ADAM22_ENST00000398209.3_Silent_p.L698L|ADAM22_ENST00000265727.7_Silent_p.L698L|ADAM22_ENST00000398201.4_Silent_p.L698L|ADAM22_ENST00000315984.7_Silent_p.L698L	p.L698L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		24	2415	+	Esophageal squamous(14;0.00202)		698			EGF-like.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	c.2092C>T	CCDS47637.1																																																																																				0.378	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		5	66	0	0	0	1	0	5	66				
ARRB1	408	broad.mit.edu	37	11	74992172	74992172	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74992172G>T	ENST00000420843.2	-	7	526	c.429C>A	c.(427-429)gaC>gaA	p.D143E	ARRB1_ENST00000393505.4_Missense_Mutation_p.D143E|ARRB1_ENST00000360025.3_Missense_Mutation_p.D143E	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	143	Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGACTTCATAGTCCACACCGC	0.587																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(427-429)gaC>gaA		arrestin, beta 1							75.0	61.0	66.0					11																	74992172		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74992172G>T	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.429C>A	11.37:g.74992172G>T	ENSP00000409581:p.Asp143Glu					ARRB1_ENST00000360025.3_Missense_Mutation_p.D143E|ARRB1_ENST00000393505.4_Missense_Mutation_p.D143E	p.D143E	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			7	526	-			143			Interaction with SRC (By similarity).		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.429C>A	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272496	0.40194	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.4	3.49	0.39957	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.63843	1.955	0.58432	D	0.999996	P;D	0.54207	0.618;0.965	B;P	0.56700	0.386;0.804	T	0.01096	-1.1453	10	0.38643	T	0.18	-18.6376	9.7119	0.40251	0.1783:0.0:0.8217:0.0	.	143;143	P49407-2;P49407	.;ARRB1_HUMAN	E	143;143;143;138	ENSP00000409581:D143E;ENSP00000377141:D143E;ENSP00000353124:D143E;ENSP00000433171:D138E	ENSP00000353124:D143E	D	-	3	2	ARRB1	74669820	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.262000	0.58847	1.273000	0.44346	0.462000	0.41574	GAC		0.587	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		3	4	1	0	0.004672	1	0.0049138	3	4				
DHRS2	10202	broad.mit.edu	37	14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	rs146408773		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24109024G>A	ENST00000250383.6	+	4	816	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	114					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18413	0.0		0.0	False		,,,				2504	0.0					ENST00000250383.6																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(340-342)Gtc>Atc		dehydrogenase/reductase (SDR family) member 2		G	ILE/VAL,ILE/VAL	1,4405		0,1,2202	59.0	58.0	58.0		340,340	-3.3	0.0	14	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	DHRS2	NM_182908.4,NM_005794.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	114/301,114/281	24109024	1,13005	2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24109024G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.340G>A	14.37:g.24109024G>A	ENSP00000250383:p.Val114Ile					DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I|DHRS2_ENST00000553896.1_3'UTR	p.V114I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	4	816	+			92					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.340G>A	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.202|0.202	-1.043678|-1.043678	0.01997|0.01997	2.27E-4|2.27E-4	0.0|0.0	ENSG00000100867|ENSG00000100867	ENST00000557535|ENST00000432832;ENST00000250383;ENST00000344777;ENST00000553600	.|T;T;T;T	.|0.18657	.|2.2;2.2;2.2;2.2	4.55|4.55	-3.26|-3.26	0.05064|0.05064	.|NAD(P)-binding domain (1);	.|0.739218	.|0.12918	.|N	.|0.428420	T|T	0.06050|0.06050	0.0157|0.0157	N|N	0.04275|0.04275	-0.24|-0.24	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.15473	.|0.0;0.0;0.013;0.012	.|B;B;B;B	.|0.12837	.|0.002;0.002;0.006;0.008	T|T	0.38564|0.38564	-0.9655|-0.9655	5|10	.|0.02654	.|T	.|1	.|.	6.3593|6.3593	0.21419|0.21419	0.5256:0.1426:0.3317:0.0|0.5256:0.1426:0.3317:0.0	.|.	.|92;114;114;92	.|Q13268;C9JZP6;D3DS54;Q13268-2	.|DHRS2_HUMAN;.;.;.	H|I	29|114;114;114;14	.|ENSP00000401213:V114I;ENSP00000250383:V114I;ENSP00000344674:V114I;ENSP00000451485:V14I	.|ENSP00000250383:V114I	R|V	+|+	2|1	0|0	DHRS2|DHRS2	23178864|23178864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.169000|-0.169000	0.09911|0.09911	-0.620000|-0.620000	0.05641|0.05641	-0.742000|-0.742000	0.03525|0.03525	CGT|GTC		0.642	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		13	27	0	0	0	1	0	13	27				
CSMD2	114784	broad.mit.edu	37	1	34052210	34052210	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052210G>A	ENST00000373381.4	-	46	7121	c.6945C>T	c.(6943-6945)atC>atT	p.I2315I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2317	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGCGTACGATGTCACCTG	0.483																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6943-6945)atC>atT		CUB and Sushi multiple domains 2							91.0	83.0	86.0					1																	34052210		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34052210G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6945C>T	1.37:g.34052210G>A							p.I2315I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			46	7121	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2317			Sushi 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.6945C>T																																																																																					0.483	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		12	23	0	0	0	1	0	12	23				
PDXK	8566	broad.mit.edu	37	21	45165991	45165991	+	Silent	SNP	C	C	T	rs117861720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45165991C>T	ENST00000291565.4	+	5	546	c.363C>T	c.(361-363)gaC>gaT	p.D121D	PDXK_ENST00000467908.1_Silent_p.D81D|PDXK_ENST00000468090.1_Silent_p.D93D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	121					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACAAGTGGGACGGCGAAGGCT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20784	0.0		0.001	False		,,,				2504	0.0					ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(361-363)gaC>gaT		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)	C		1,4405	2.1+/-5.4	0,1,2202	303.0	238.0	260.0		363	-8.7	0.0	21	dbSNP_132	260	0,8600		0,0,4300	no	coding-synonymous	PDXK	NM_003681.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		121/313	45165991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45165991C>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.363C>T	21.37:g.45165991C>T						PDXK_ENST00000467908.1_Silent_p.D81D|PDXK_ENST00000468090.1_Silent_p.D93D	p.D121D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	5	546	+			121					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.363C>T	CCDS13699.1																																																																																				0.498	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		7	31	0	0	0	1	0	7	31				
NISCH	11188	broad.mit.edu	37	3	52522138	52522138	+	Missense_Mutation	SNP	G	G	A	rs150671822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52522138G>A	ENST00000479054.1	+	17	2702	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D	NISCH_ENST00000345716.4_Missense_Mutation_p.G877D			Q9Y2I1	NISCH_HUMAN	nischarin	877					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GACTACTCAGGCAACATCGAG	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17923	0.0		0.0	False		,,,				2504	0.0					ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2629-2631)gGc>gAc		nischarin		G	ASP/GLY	0,4406		0,0,2203	30.0	30.0	30.0		2630	4.1	1.0	3	dbSNP_134	30	1,8595	1.2+/-3.3	0,1,4297	no	missense	NISCH	NM_007184.3	94	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	877/1505	52522138	1,13001	2203	4298	6501	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522138G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2630G>A	3.37:g.52522138G>A	ENSP00000418232:p.Gly877Asp					NISCH_ENST00000479054.1_Missense_Mutation_p.G877D	p.G877D	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2764	+			877					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2630G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565678	0.45694	0.0	1.16E-4	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.07800	3.16;3.16	5.04	4.14	0.48551	.	0.407988	0.28140	N	0.016443	T	0.06416	0.0165	N	0.24115	0.695	0.33391	D	0.576079	P	0.48764	0.915	B	0.41764	0.366	T	0.23332	-1.0191	10	0.52906	T	0.07	-26.0145	8.6923	0.34273	0.1233:0.1375:0.7392:0.0	.	877	Q9Y2I1	NISCH_HUMAN	D	877;877;221	ENSP00000418232:G877D;ENSP00000339958:G877D	ENSP00000339958:G877D	G	+	2	0	NISCH	52497178	1.000000	0.71417	0.998000	0.56505	0.469000	0.32828	1.967000	0.40491	1.213000	0.43380	0.561000	0.74099	GGC		0.682	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		12	18	0	0	0	1	0	12	18				
TMEM140	55281	broad.mit.edu	37	7	134849717	134849717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134849717C>T	ENST00000275767.3	+	2	747	c.524C>T	c.(523-525)gCt>gTt	p.A175V	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	175						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						CCTCTGAGGGCTGAGAGGGCT	0.577																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(523-525)gCt>gTt		transmembrane protein 140							48.0	47.0	47.0					7																	134849717		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849717C>T	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.524C>T	7.37:g.134849717C>T	ENSP00000275767:p.Ala175Val					C7orf49_ENST00000459937.1_Intron	p.A175V	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	747	+			175					A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.524C>T	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126614	0.37533	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.20069	2.1	5.04	-0.214	0.13161	.	0.606997	0.14863	N	0.294000	T	0.17746	0.0426	M	0.63428	1.95	0.09310	N	1	B	0.32829	0.386	B	0.33521	0.165	T	0.17776	-1.0358	10	0.49607	T	0.09	-1.9252	2.9281	0.05791	0.3496:0.3636:0.0:0.2868	.	175	Q9NV12	TM140_HUMAN	V	175;138	ENSP00000275767:A175V	ENSP00000275767:A175V	A	+	2	0	TMEM140	134500257	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.629000	0.05508	0.279000	0.22186	0.655000	0.94253	GCT		0.577	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		32	29	0	0	0	1	0	32	29				
PDE6B	5158	broad.mit.edu	37	4	652779	652779	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:652779C>T	ENST00000496514.1	+	11	1461	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C	PDE6B_ENST00000255622.6_Silent_p.C480C|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Silent_p.C201C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	480					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CTGCTGACTGCGATGAGGACG	0.602																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1438-1440)tgC>tgT		phosphodiesterase 6B, cGMP-specific, rod, beta							115.0	89.0	98.0					4																	652779		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:652779C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1440C>T	4.37:g.652779C>T						PDE6B_ENST00000429163.2_Silent_p.C201C|PDE6B_ENST00000496514.1_Silent_p.C480C	p.C480C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			11	1483	+			480					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.1440C>T	CCDS33932.1																																																																																				0.602	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		8	26	0	0	0	1	0	8	26				
SCUBE2	57758	broad.mit.edu	37	11	9077443	9077443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9077443G>T	ENST00000309263.3	-	10	1176	c.1104C>A	c.(1102-1104)tgC>tgA	p.C368*	SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.C368*|SCUBE2_ENST00000457346.2_Nonsense_Mutation_p.C368*|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Nonsense_Mutation_p.C368*|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	368	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TATCCAAAGAGCACTCATCCA	0.502																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1102-1104)tgC>tgA		signal peptide, CUB domain, EGF-like 2							211.0	183.0	192.0					11																	9077443		2201	4296	6497	SO:0001587	stop_gained	57758					extracellular region	calcium ion binding	g.chr11:9077443G>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1104C>A	11.37:g.9077443G>T	ENSP00000310658:p.Cys368*					SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.C368*|SCUBE2_ENST00000450649.2_Nonsense_Mutation_p.C368*|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.C368*	p.C368*			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	10	1178	-			368			EGF-like 8; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Nonsense_Mutation	SNP	ENST00000309263.3	37	c.1104C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.396908|6.396908	0.97533|0.97533	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000519788;ENST00000531429|ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	.|.	.|.	.|.	5.86|5.86	3.97|3.97	0.46021|0.46021	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.22282|.	0.0537|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32375|.	-0.9909|.	3|.	.|0.02654	.|T	.|1	.|.	8.2401|8.2401	0.31654|0.31654	0.3018:0.0:0.6982:0.0|0.3018:0.0:0.6982:0.0	.|.	.|.	.|.	.|.	D|X	92;133|368	.|.	.|ENSP00000310658:C368X	A|C	-|-	2|3	0|2	SCUBE2|SCUBE2	9034019|9034019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	2.210000|2.210000	0.42816|0.42816	0.791000|0.791000	0.33826|0.33826	0.563000|0.563000	0.77884|0.77884	GCT|TGC		0.502	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		23	132	1	0	1.10513e-12	1	1.39297e-12	23	132				
SUPT7L	9913	broad.mit.edu	37	2	27878378	27878378	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27878378G>T	ENST00000337768.5	-	5	1405	c.836C>A	c.(835-837)cCt>cAt	p.P279H	SUPT7L_ENST00000405491.1_Missense_Mutation_p.P277H|SUPT7L_ENST00000404798.2_Missense_Mutation_p.P144H|SUPT7L_ENST00000464789.2_Missense_Mutation_p.P277H|SUPT7L_ENST00000406540.1_Missense_Mutation_p.P277H	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	279					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GTCGCTCACAGGTTCCTCCTT	0.502																																						ENST00000337768.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(835-837)cCt>cAt		suppressor of Ty 7 (S. cerevisiae)-like							132.0	134.0	133.0					2																	27878378		2022	4197	6219	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27878378G>T	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.836C>A	2.37:g.27878378G>T	ENSP00000336750:p.Pro279His					SUPT7L_ENST00000406540.1_Missense_Mutation_p.P277H|SUPT7L_ENST00000405491.1_Missense_Mutation_p.P277H|SUPT7L_ENST00000404798.2_Missense_Mutation_p.P144H|SUPT7L_ENST00000464789.2_Missense_Mutation_p.P277H	p.P279H	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN			5	1405	-	Acute lymphoblastic leukemia(172;0.155)		279					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.836C>A	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100179	0.56183	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	6.15	4.07	0.47477	.	0.206103	0.52532	D	0.000077	T	0.48840	0.1522	N	0.19112	0.55	0.80722	D	1	D;D;D	0.57257	0.964;0.979;0.964	P;P;P	0.53988	0.525;0.739;0.552	T	0.46470	-0.9189	9	0.33141	T	0.24	-9.1911	14.1409	0.65320	0.1401:0.0:0.8599:0.0	.	144;277;279	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	H	279;277;277;277;144	.	ENSP00000336750:P279H	P	-	2	0	SUPT7L	27731882	1.000000	0.71417	0.995000	0.50966	0.433000	0.31745	7.121000	0.77160	1.624000	0.50355	-0.152000	0.13540	CCT		0.502	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		4	82	1	0	2.56e-06	1	2.9446e-06	4	82				
CLDN7	1366	broad.mit.edu	37	17	7165231	7165231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7165231C>A	ENST00000360325.7	-	1	566	c.132G>T	c.(130-132)caG>caT	p.Q44H	RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.Q44H|CLDN7_ENST00000397317.4_Missense_Mutation_p.Q44H|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000571881.2_Missense_Mutation_p.Q44H|CLDN7_ENST00000538261.3_Missense_Mutation_p.Q44H	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	44					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TGTACATGGCCTGGGCCGTGA	0.632																																						ENST00000538261.3																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(130-132)caG>caT		claudin 7							96.0	69.0	78.0					17																	7165231		2203	4300	6503	SO:0001583	missense	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7165231C>A	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.132G>T	17.37:g.7165231C>A	ENSP00000353475:p.Gln44His					RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.Q44H|CLDN7_ENST00000360325.7_Missense_Mutation_p.Q44H|CLDN7_ENST00000571881.2_Missense_Mutation_p.Q44H|CLDN7_ENST00000397317.4_Missense_Mutation_p.Q44H	p.Q44H	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN			1	1033	-			44					B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	c.132G>T	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109784	0.94292	.	.	ENSG00000181885	ENST00000360325;ENST00000397317;ENST00000538261	D;D;D	0.89270	-2.49;-2.49;-2.49	4.93	4.93	0.64822	.	0.365238	0.27164	N	0.020626	D	0.95085	0.8408	M	0.89715	3.055	0.39660	D	0.970592	D;D	0.69078	0.997;0.991	D;P	0.67382	0.951;0.781	D	0.96385	0.9284	10	0.72032	D	0.01	.	15.9896	0.80193	0.0:1.0:0.0:0.0	.	44;44	F5H496;O95471	.;CLD7_HUMAN	H	44	ENSP00000353475:Q44H;ENSP00000396638:Q44H;ENSP00000445131:Q44H	ENSP00000353475:Q44H	Q	-	3	2	CLDN7	7105955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.115000	0.31209	2.442000	0.82660	0.462000	0.41574	CAG		0.632	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		15	13	1	0	2.61681e-11	1	3.25769e-11	15	13				
VAV3	10451	broad.mit.edu	37	1	108299952	108299952	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108299952C>T	ENST00000370056.4	-	11	1292		c.e11-1		VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000371846.4_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGACCAGTTCCTATTTGGAAG	0.333																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.e11-1		vav 3 guanine nucleotide exchange factor							138.0	128.0	131.0					1																	108299952		2203	4300	6503	SO:0001630	splice_region_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108299952C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1018-1G>A	1.37:g.108299952C>T						VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site		NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	11	1292	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)						B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37		CCDS785.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.023181	0.75275	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000490388;ENST00000371846	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1174	0.97942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108101475	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.381000	0.79718	2.755000	0.94549	0.639000	0.83563	.		0.333	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	3	63	0	0	0	1	0	3	63				
MMS22L	253714	broad.mit.edu	37	6	97681832	97681832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97681832G>A	ENST00000275053.4	-	12	1472	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	403					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGATACATTCGTAATTGTTCT	0.343																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1207-1209)Cga>Tga		MMS22-like, DNA repair protein							93.0	96.0	95.0					6																	97681832		2203	4298	6501	SO:0001587	stop_gained	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97681832G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1207C>T	6.37:g.97681832G>A	ENSP00000275053:p.Arg403*					MMS22L_ENST00000369251.2_Intron	p.R403*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			12	1472	-			403					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Nonsense_Mutation	SNP	ENST00000275053.4	37	c.1207C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	37	6.452430	0.97577	.	.	ENSG00000146263	ENST00000275053;ENST00000510018	.	.	.	5.39	2.43	0.29744	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0085	14.217	0.65800	0.0:0.0:0.6081:0.3918	.	.	.	.	X	403;291	.	ENSP00000275053:R403X	R	-	1	2	MMS22L	97788553	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.219000	0.65262	0.265000	0.21872	-0.181000	0.13052	CGA		0.343	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		6	100	0	0	0	1	0	6	100				
SDK2	54549	broad.mit.edu	37	17	71384091	71384091	+	Silent	SNP	G	G	A	rs369725380		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71384091G>A	ENST00000392650.3	-	30	4278	c.4278C>T	c.(4276-4278)agC>agT	p.S1426S	SDK2_ENST00000388726.3_Silent_p.S1426S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1426	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGAGCCCGTCGCTCCCTGGCT	0.687																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4276-4278)agC>agT		sidekick cell adhesion molecule 2		G		0,4400		0,0,2200	25.0	20.0	21.0		4278	-0.1	1.0	17		21	1,8581		0,1,4290	no	coding-synonymous	SDK2	NM_001144952.1		0,1,6490	AA,AG,GG		0.0117,0.0,0.0077		1426/2173	71384091	1,12981	2200	4291	6491	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71384091G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4278C>T	17.37:g.71384091G>A						SDK2_ENST00000388726.3_Silent_p.S1426S	p.S1426S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			30	4278	-			1426			Fibronectin type-III 9.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.4278C>T	CCDS45769.1																																																																																				0.687	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	5	0	0	0	1	0	4	5				
UNC93A	54346	broad.mit.edu	37	6	167708048	167708048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167708048G>T	ENST00000230256.3	+	2	306	c.131G>T	c.(130-132)aGc>aTc	p.S44I	UNC93A_ENST00000366829.2_Missense_Mutation_p.S44I|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAGCGCTCAGCACCCTCTAT	0.617																																						ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(130-132)aGc>aTc		unc-93 homolog A (C. elegans)							211.0	171.0	185.0					6																	167708048		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167708048G>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.131G>T	6.37:g.167708048G>T	ENSP00000230256:p.Ser44Ile					UNC93A_ENST00000366829.2_Missense_Mutation_p.S44I|UNC93A_ENST00000366830.2_3'UTR	p.S44I	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	306	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	44					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.131G>T	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351664	0.61183	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.46819	0.86;0.86;0.86	4.55	4.55	0.56014	Major facilitator superfamily domain, general substrate transporter (1);	0.084807	0.85682	D	0.000000	T	0.69142	0.3078	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.75608	-0.3259	10	0.45353	T	0.12	-28.1418	16.2783	0.82656	0.0:0.0:1.0:0.0	.	44;44	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	I	44	ENSP00000421484:S44I;ENSP00000230256:S44I;ENSP00000355794:S44I	ENSP00000230256:S44I	S	+	2	0	UNC93A	167628038	1.000000	0.71417	0.941000	0.38009	0.162000	0.22319	8.516000	0.90552	2.070000	0.61991	0.462000	0.41574	AGC		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		51	56	1	0	4.10826e-27	1	5.47827e-27	51	56				
CCT6P3	643180	broad.mit.edu	37	7	64528880	64528880	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64528880C>A	ENST00000426828.1	+	0	668				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		AAGAGAAAAACTCATAAAAGC	0.279																																						ENST00000426828.1																			0																																																			0							g.chr7:64528880C>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528880C>A								NR_033416.1						0	668	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.279	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	12	1	0	0.00307968	1	0.00325696	7	12				
GPR132	29933	broad.mit.edu	37	14	105517744	105517744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517744C>T	ENST00000329797.3	-	4	1641	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	GPR132_ENST00000539291.2_Missense_Mutation_p.A244T|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000392585.2_Missense_Mutation_p.A235T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	244					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACCGCGATGGCCGAGTGCTTC	0.567																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(730-732)Gcc>Acc		G protein-coupled receptor 132							108.0	103.0	105.0					14																	105517744		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517744C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.730G>A	14.37:g.105517744C>T	ENSP00000328818:p.Ala244Thr					GPR132_ENST00000392585.2_Missense_Mutation_p.A235T|GPR132_ENST00000539291.2_Missense_Mutation_p.A244T	p.A244T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1641	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	244					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.730G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297427	0.40694	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37584	1.19;1.19;1.19	4.88	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.472444	0.21704	N	0.070369	T	0.43743	0.1261	M	0.78285	2.405	0.09310	N	0.999999	P;P	0.43231	0.801;0.801	P;P	0.44696	0.458;0.458	T	0.40213	-0.9575	10	0.59425	D	0.04	.	9.405	0.38455	0.1631:0.6796:0.1573:0.0	.	235;244	B4E144;Q9UNW8	.;GP132_HUMAN	T	244;235;244	ENSP00000328818:A244T;ENSP00000376364:A235T;ENSP00000438094:A244T	ENSP00000328818:A244T	A	-	1	0	GPR132	104588789	0.218000	0.23608	0.002000	0.10522	0.061000	0.15899	0.945000	0.29056	1.014000	0.39417	0.563000	0.77884	GCC		0.567	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		25	46	0	0	0	1	0	25	46				
IQCH	64799	broad.mit.edu	37	15	67664560	67664560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67664560G>T	ENST00000335894.4	+	9	931	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	IQCH_ENST00000546225.1_Nonsense_Mutation_p.E37*|IQCH_ENST00000358767.3_Nonsense_Mutation_p.E116*|IQCH_ENST00000360277.4_Nonsense_Mutation_p.E41*	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	289										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCATTCAAGGAACATTTTAG	0.388																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(865-867)Gaa>Taa		IQ motif containing H							111.0	109.0	110.0					15																	67664560		2201	4299	6500	SO:0001587	stop_gained	64799							g.chr15:67664560G>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.865G>T	15.37:g.67664560G>T	ENSP00000336861:p.Glu289*					IQCH_ENST00000546225.1_Nonsense_Mutation_p.E37*|IQCH_ENST00000358767.3_Nonsense_Mutation_p.E116*|IQCH_ENST00000360277.4_Nonsense_Mutation_p.E41*	p.E289*	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	9	931	+			289					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Nonsense_Mutation	SNP	ENST00000335894.4	37	c.865G>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	39	7.440878	0.98286	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	.	.	.	5.63	-0.797	0.10909	.	0.597985	0.17949	N	0.156589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-3.3284	2.9692	0.05917	0.2786:0.3524:0.2779:0.091	.	.	.	.	X	116;37;289;41	.	ENSP00000336861:E289X	E	+	1	0	IQCH	65451614	0.026000	0.19158	0.017000	0.16124	0.897000	0.52465	-0.335000	0.07873	-0.322000	0.08615	-0.150000	0.13652	GAA		0.388	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		8	89	1	0	0.00307968	1	0.00325696	8	89				
CIZ1	25792	broad.mit.edu	37	9	130931346	130931346	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130931346C>T	ENST00000393608.1	-	14	2482	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	CIZ1_ENST00000372938.5_Silent_p.E760E|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_Silent_p.E680E|CIZ1_ENST00000541172.1_Silent_p.E659E|CIZ1_ENST00000325721.8_Silent_p.E731E|CIZ1_ENST00000372948.3_Silent_p.E704E|CIZ1_ENST00000538431.1_Silent_p.E786E|CIZ1_ENST00000277465.4_Silent_p.E732E|CIZ1_ENST00000357558.5_Silent_p.E732E	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	760	Glu-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGCAGAGTtcctcctcaacct	0.582																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(2356-2358)gaG>gaA		CDKN1A interacting zinc finger protein 1							206.0	190.0	196.0					9																	130931346		2203	4300	6503	SO:0001819	synonymous_variant	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130931346C>T	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2280G>A	9.37:g.130931346C>T						CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Silent_p.E760E|CIZ1_ENST00000541172.1_Silent_p.E659E|CIZ1_ENST00000277465.4_Silent_p.E732E|CIZ1_ENST00000357558.5_Silent_p.E732E|CIZ1_ENST00000325721.8_Silent_p.E731E|CIZ1_ENST00000372938.5_Silent_p.E760E|CIZ1_ENST00000372948.3_Silent_p.E704E|CIZ1_ENST00000372954.1_Silent_p.E680E	p.E786E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			15	2605	-			760					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	c.2358G>A	CCDS6894.1																																																																																				0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		43	65	0	0	0	1	0	43	65				
ANKRD46	157567	broad.mit.edu	37	8	101541754	101541754	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101541754A>C	ENST00000520552.1	-	3	469	c.308T>G	c.(307-309)aTt>aGt	p.I103S	ANKRD46_ENST00000519597.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000519316.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000520311.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000335659.3_Missense_Mutation_p.I103S	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	103						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AACTTACCAAATATCAATTTT	0.373																																						ENST00000520311.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(307-309)aTt>aGt		ankyrin repeat domain 46							73.0	76.0	75.0					8																	101541754		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101541754A>C	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.308T>G	8.37:g.101541754A>C	ENSP00000429015:p.Ile103Ser					ANKRD46_ENST00000519597.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000335659.3_Missense_Mutation_p.I103S|ANKRD46_ENST00000519316.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000520552.1_Missense_Mutation_p.I103S	p.I103S	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	1111	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		103					Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.308T>G	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098897	0.76870	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072	T;T;T;T;T;T;T	0.59364	1.32;1.32;1.32;1.32;1.32;1.32;0.27	5.78	5.78	0.91487	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	L	0.28115	0.83	0.80722	D	1	P;P	0.50156	0.89;0.932	P;P	0.61397	0.702;0.888	T	0.54036	-0.8353	10	0.12103	T	0.63	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	103;103	Q86W74-2;Q86W74	.;ANR46_HUMAN	S	103	ENSP00000429015:I103S;ENSP00000335287:I103S;ENSP00000430056:I103S;ENSP00000428388:I103S;ENSP00000430827:I103S;ENSP00000351881:I103S;ENSP00000430357:I103S	ENSP00000335287:I103S	I	-	2	0	ANKRD46	101610930	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.810000	0.91950	2.220000	0.72140	0.533000	0.62120	ATT		0.373	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		4	54	0	0	0	1	0	4	54				
SHC2	25759	broad.mit.edu	37	19	422274	422274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:422274C>A	ENST00000264554.6	-	11	1491	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	498	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCATCCTCTCTGCCGCCCGG	0.706																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1492-1494)Gag>Tag		SHC (Src homology 2 domain containing) transforming protein 2							16.0	20.0	19.0					19																	422274		2170	4266	6436	SO:0001587	stop_gained	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:422274C>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1492G>T	19.37:g.422274C>A	ENSP00000264554:p.Glu498*						p.E498*	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1491	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	498			SH2.		O60230|Q9NPL5|Q9UCX4	Nonsense_Mutation	SNP	ENST00000264554.6	37	c.1492G>T	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	37	6.496121	0.97612	.	.	ENSG00000129946	ENST00000264554	.	.	.	4.75	4.75	0.60458	.	0.121664	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-47.136	17.187	0.86869	0.0:1.0:0.0:0.0	.	.	.	.	X	498	.	ENSP00000264554:E498X	E	-	1	0	SHC2	373274	1.000000	0.71417	0.777000	0.31699	0.840000	0.47671	7.204000	0.77872	2.575000	0.86900	0.651000	0.88453	GAG		0.706	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			4	13	1	0	0.014758	1	0.0152625	4	13				
TTLL5	23093	broad.mit.edu	37	14	76330205	76330205	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76330205G>T	ENST00000298832.9	+	29	3727	c.3522G>T	c.(3520-3522)caG>caT	p.Q1174H	TTLL5_ENST00000557636.1_Splice_Site_p.Q1189H|TTLL5_ENST00000554510.1_Splice_Site_p.Q683H|TTLL5_ENST00000556893.1_Splice_Site_p.Q725H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1174					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCGGCACCAGGTAATTCAAG	0.423																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e29+1		tubulin tyrosine ligase-like family, member 5							46.0	51.0	49.0					14																	76330205		2203	4299	6502	SO:0001630	splice_region_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76330205G>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3522+1G>T	14.37:g.76330205G>T						TTLL5_ENST00000554510.1_Splice_Site_p.Q683_splice|TTLL5_ENST00000556893.1_Splice_Site_p.Q725_splice|TTLL5_ENST00000557636.1_Splice_Site_p.Q1189_splice	p.Q1174_splice	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	29	3727	+			1174					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Splice_Site	SNP	ENST00000298832.9	37	c.3522_splice	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489718	0.84962	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.54071	2.88;2.96;0.59;0.62	5.51	5.51	0.81932	.	0.137728	0.49916	D	0.000134	T	0.64670	0.2619	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.998	D;D;D;D	0.91635	0.998;0.994;0.999;0.993	T	0.66763	-0.5841	10	0.87932	D	0	.	17.966	0.89099	0.0:0.0:1.0:0.0	.	1189;248;725;1174	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	H	248;1189;1174;725;725;683	ENSP00000450713:Q1189H;ENSP00000298832:Q1174H;ENSP00000452524:Q725H;ENSP00000451946:Q683H	ENSP00000286653:Q248H	Q	+	3	2	TTLL5	75399958	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.242000	0.89818	2.746000	0.94184	0.655000	0.94253	CAG		0.423	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	Missense_Mutation	6	63	1	0	2.0095e-06	1	2.31757e-06	6	63				
ATG101	60673	broad.mit.edu	37	12	52470759	52470759	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470759C>A	ENST00000336854.4	+	4	920	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RP11-1100L3.7_ENST00000550301.1_RNA|OR7E47P_ENST00000546390.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		148					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGGTGAGAAACTCTGCGAGAA	0.567																																						ENST00000336854.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(442-444)Ctc>Atc		chromosome 12 open reading frame 44							160.0	121.0	134.0					12																	52470759		2203	4300	6503	SO:0001583	missense	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470759C>A																												ENST00000336854.4:c.442C>A	12.37:g.52470759C>A	ENSP00000338990:p.Leu148Ile					RP11-1100L3.7_ENST00000550301.1_RNA	p.L148I	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	920	+			148					Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	37	c.442C>A	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878045	0.72294	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000550984	.	.	.	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000002	T	0.77705	0.4170	M	0.73598	2.24	0.58432	D	0.999994	D	0.76494	0.999	D	0.71184	0.972	T	0.76908	-0.2785	9	0.37606	T	0.19	-27.3645	16.9089	0.86135	0.0:1.0:0.0:0.0	.	148	Q9BSB4	ATGA1_HUMAN	I	148	.	ENSP00000338990:L148I	L	+	1	0	C12orf44	50757026	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.424000	0.59868	2.595000	0.87683	0.655000	0.94253	CTC		0.567	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			4	42	1	0	0.150653	1	0.152692	4	42				
ZNF585A	199704	broad.mit.edu	37	19	37643484	37643484	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643484T>G	ENST00000356958.4	-	5	1575	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K384N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K384N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGACCACATTTATGAGGTT	0.393																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1315-1317)aaA>aaC		zinc finger protein 585A							115.0	113.0	114.0					19																	37643484		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643484T>G	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1317A>C	19.37:g.37643484T>G	ENSP00000349440:p.Lys439Asn					ZNF585A_ENST00000292841.5_Missense_Mutation_p.K384N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K384N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron	p.K439N			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1575	-			439					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1317A>C		.	.	.	.	.	.	.	.	.	.	T	10.27	1.302916	0.23736	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.58060	0.36;0.36;0.36	3.13	-0.737	0.11129	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.400717	0.18215	N	0.148067	T	0.45013	0.1321	M	0.74258	2.255	0.42024	D	0.990996	B	0.14805	0.011	B	0.11329	0.006	T	0.27640	-1.0068	10	0.59425	D	0.04	.	3.3127	0.07022	0.0:0.2588:0.2103:0.5308	.	439	Q6P3V2	Z585A_HUMAN	N	439;384;384	ENSP00000349440:K439N;ENSP00000292841:K384N;ENSP00000375998:K384N	ENSP00000292841:K384N	K	-	3	2	ZNF585A	42335324	0.000000	0.05858	0.064000	0.19789	0.370000	0.29829	-2.387000	0.01060	-0.391000	0.07763	0.459000	0.35465	AAA		0.393	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		7	137	0	0	0	1	0	7	137				
DROSHA	29102	broad.mit.edu	37	5	31511154	31511154	+	Missense_Mutation	SNP	C	C	T	rs367768426		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31511154C>T	ENST00000511367.2	-	8	1664	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	DROSHA_ENST00000513349.1_Missense_Mutation_p.D437N|DROSHA_ENST00000344624.3_Missense_Mutation_p.D474N|DROSHA_ENST00000442743.1_Missense_Mutation_p.D437N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	474					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAATCTTCATCGAGCTTCGTC	0.478																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1420-1422)Gat>Aat		drosha, ribonuclease type III		C	ASN/ASP,ASN/ASP	0,3986		0,0,1993	136.0	129.0	132.0		1309,1420	6.2	1.0	5		132	1,8359		0,1,4179	no	missense,missense	DROSHA	NM_001100412.1,NM_013235.4	23,23	0,1,6172	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	437/1338,474/1375	31511154	1,12345	1993	4180	6173	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31511154C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1420G>A	5.37:g.31511154C>T	ENSP00000425979:p.Asp474Asn					DROSHA_ENST00000513349.1_Missense_Mutation_p.D437N|DROSHA_ENST00000344624.3_Missense_Mutation_p.D474N|DROSHA_ENST00000442743.1_Missense_Mutation_p.D437N	p.D474N	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			8	1664	-			474					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1420G>A	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.582511|3.582511	0.65992|0.65992	0.0|0.0	1.2E-4|1.2E-4	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188|ENST00000512076	T;T;T;T|.	0.45668|.	1.47;1.47;0.89;0.89|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69797|0.69797	0.3151|0.3151	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;B;D|.	0.76494|.	0.493;0.36;0.999|.	B;B;D|.	0.71184|.	0.038;0.017;0.972|.	T|T	0.62020|0.62020	-0.6942|-0.6942	10|5	0.07482|.	T|.	0.82|.	-28.1544|-28.1544	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	406;437;474|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	N|Q	474;474;437;437;399;430|235	ENSP00000425979:D474N;ENSP00000339845:D474N;ENSP00000409335:D437N;ENSP00000424161:D437N|.	ENSP00000265075:D399N|.	D|R	-|-	1|2	0|0	DROSHA|DROSHA	31546911|31546911	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.569000|0.569000	0.35902|0.35902	7.487000|7.487000	0.81328|0.81328	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.478	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		6	69	0	0	0	1	0	6	69				
ZNF511	118472	broad.mit.edu	37	10	135125423	135125423	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135125423C>T	ENST00000359035.3	+	5	761	c.758C>T	c.(757-759)gCa>gTa	p.A253V	ZNF511_ENST00000463816.2_Intron|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000361518.5_Intron|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000368554.4_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACCTGGGCCGCAGCTCTTCTC	0.493																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(757-759)gCa>gTa		zinc finger protein 511																																				SO:0001583	missense	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135125423C>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.758C>T	10.37:g.135125423C>T	ENSP00000351929:p.Ala253Val					ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Intron	p.A253V			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	5	761	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	253					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.758C>T		.	.	.	.	.	.	.	.	.	.	C	7.579	0.668381	0.14776	.	.	ENSG00000198546	ENST00000359035	.	.	.	1.81	-3.61	0.04556	.	60.759700	0.00357	N	0.000032	T	0.25791	0.0628	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.12243	-1.0555	7	.	.	.	-3.7532	7.4361	0.27156	0.0:0.624:0.2178:0.1581	.	253	Q8NB15	ZN511_HUMAN	V	253	.	.	A	+	2	0	ZNF511	134975413	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.036000	0.13819	-1.471000	0.01886	-0.344000	0.07964	GCA		0.493	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		12	30	0	0	0	1	0	12	30				
RSPH4A	345895	broad.mit.edu	37	6	116949302	116949302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116949302G>T	ENST00000229554.5	+	3	1569	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.G478*|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	478					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTTTCCCAGGAAATGAGAG	0.418									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1432-1434)Gga>Tga		radial spoke head 4 homolog A (Chlamydomonas)							57.0	59.0	58.0					6																	116949302		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949302G>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1432G>T	6.37:g.116949302G>T	ENSP00000229554:p.Gly478*					RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.G478*|RSPH4A_ENST00000368580.4_Intron	p.G478*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1569	+			478					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.1432G>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	38	7.076240	0.98048	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.6482	17.4199	0.87512	0.0:0.0:1.0:0.0	.	.	.	.	X	478;478;273	.	ENSP00000229554:G478X	G	+	1	0	RSPH4A	117055995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.468000	0.97676	2.707000	0.92482	0.655000	0.94253	GGA		0.418	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		14	40	1	0	0.000219431	1	0.000240782	14	40				
LIPA	3988	broad.mit.edu	37	10	90984859	90984859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984859T>C	ENST00000336233.5	-	6	987	c.665A>G	c.(664-666)cAt>cGt	p.H222R	LIPA_ENST00000371837.1_Missense_Mutation_p.H166R|LIPA_ENST00000456827.1_Missense_Mutation_p.H222R			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	222					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTTAATGAGATGATCTGGTAA	0.498																																						ENST00000336233.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(664-666)cAt>cGt		lipase A, lysosomal acid, cholesterol esterase							218.0	235.0	229.0					10																	90984859		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:90984859T>C	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.665A>G	10.37:g.90984859T>C	ENSP00000337354:p.His222Arg					LIPA_ENST00000456827.1_Missense_Mutation_p.H222R|LIPA_ENST00000371837.1_Missense_Mutation_p.H166R	p.H222R			P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	6	987	-		Colorectal(252;0.0162)	222					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.665A>G	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	T	6.720	0.501594	0.12822	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000428800	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	4.95	-3.9	0.04181	Alpha/beta hydrolase fold-1 (1);	1.339240	0.04746	N	0.423713	T	0.47192	0.1432	L	0.33137	0.985	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.17077	-1.0381	10	0.12430	T	0.62	1.455	3.7933	0.08730	0.4518:0.0:0.2032:0.345	.	224;166;222	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	R	222;166;222;222;180;222;224;222	ENSP00000337354:H222R;ENSP00000360903:H166R;ENSP00000413019:H222R;ENSP00000388415:H222R	ENSP00000337354:H222R	H	-	2	0	LIPA	90974839	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.057000	0.11768	-0.817000	0.04335	-0.275000	0.10095	CAT		0.498	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		29	322	0	0	0	1	0	29	322				
EMX2	2018	broad.mit.edu	37	10	119305195	119305195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119305195G>A	ENST00000553456.3	+	2	1283	c.459G>A	c.(457-459)aaG>aaA	p.K153K	EMX2_ENST00000546446.1_3'UTR|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	153					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGGCCCGAAAGCCCAAGCGGA	0.607																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(457-459)aaG>aaA		empty spiracles homeobox 2							66.0	56.0	59.0					10																	119305195		2203	4300	6503	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119305195G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.459G>A	10.37:g.119305195G>A						EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	p.K153K	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	2	1283	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	153					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.459G>A	CCDS7601.1																																																																																				0.607	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		5	21	0	0	0	1	0	5	21				
PCDH11X	27328	broad.mit.edu	37	X	91132650	91132650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91132650G>A	ENST00000373094.1	+	2	2256	c.1411G>A	c.(1411-1413)Gta>Ata	p.V471I	PCDH11X_ENST00000373088.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V471I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V471I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	471	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAGTCTTTCGTAACTGTTTC	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1411-1413)Gta>Ata		protocadherin 11 X-linked							65.0	58.0	61.0					X																	91132650		2203	4298	6501	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132650G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1411G>A	X.37:g.91132650G>A	ENSP00000362186:p.Val471Ile					PCDH11X_ENST00000373097.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V471I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V471I	p.V471I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2256	+			471			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1411G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.775706	0.00080	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.66995	-0.24;0.12;0.12;-0.24;0.12;-0.24;0.12;0.12;0.12	5.38	1.52	0.23074	Cadherin (3);Cadherin-like (1);	0.152061	0.56097	N	0.000029	T	0.31857	0.0810	N	0.04162	-0.26	0.22552	N	0.998992	B;B;B;B;B;B;B;B	0.09022	0.002;0.001;0.002;0.002;0.002;0.002;0.002;0.001	B;B;B;B;B;B;B;B	0.09377	0.002;0.002;0.002;0.002;0.002;0.004;0.002;0.002	T	0.27739	-1.0065	10	0.02654	T	1	.	4.4721	0.11717	0.6869:0.0:0.1682:0.1449	.	471;471;471;471;471;471;471;471	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	471	ENSP00000378746:V471I;ENSP00000362186:V471I;ENSP00000362189:V471I;ENSP00000355040:V471I;ENSP00000362180:V471I;ENSP00000423762:V471I;ENSP00000355105:V471I;ENSP00000384758:V471I;ENSP00000298274:V471I	ENSP00000298274:V471I	V	+	1	0	PCDH11X	91019306	0.982000	0.34865	0.374000	0.26016	0.003000	0.03518	2.714000	0.47202	0.222000	0.20900	-0.498000	0.04607	GTA		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		35	54	0	0	0	1	0	35	54				
GRIK4	2900	broad.mit.edu	37	11	120776016	120776016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776016G>A	ENST00000527524.2	+	13	1577	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	GRIK4_ENST00000438375.2_Missense_Mutation_p.M430I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	430					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CATATTTAATGCTGAAGGGGA	0.552																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1288-1290)atG>atA		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						170.0	171.0	171.0					11																	120776016		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776016G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1290G>A	11.37:g.120776016G>A	ENSP00000435648:p.Met430Ile					GRIK4_ENST00000438375.2_Missense_Mutation_p.M430I	p.M430I			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1577	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	430					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1290G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216418	0.95104	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11277	2.79;2.79	5.47	5.47	0.80525	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	M	0.75777	2.31	0.80722	D	1	D;P	0.56746	0.977;0.928	D;P	0.63113	0.911;0.852	T	0.04294	-1.0962	10	0.87932	D	0	.	19.323	0.94250	0.0:0.0:1.0:0.0	.	430;430	A6H8K8;Q16099	.;GRIK4_HUMAN	I	430	ENSP00000435648:M430I;ENSP00000404063:M430I	ENSP00000404063:M430I	M	+	3	0	GRIK4	120281226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.561000	0.86390	0.655000	0.94253	ATG		0.552	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		76	119	0	0	0	1	0	76	119				
NRXN1	9378	broad.mit.edu	37	2	50850457	50850457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50850457G>A	ENST00000406316.2	-	6	2605	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	NRXN1_ENST00000405472.3_Missense_Mutation_p.R377C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.R410C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R377C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R377C|NRXN1_ENST00000402717.3_Missense_Mutation_p.R377C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	377	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTACCTGACGCAGATTCCTG	0.443																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1228-1230)Cgt>Tgt		neurexin 1							57.0	57.0	57.0					2																	50850457		1998	4184	6182	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50850457G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1129C>T	2.37:g.50850457G>A	ENSP00000384311:p.Arg377Cys					NRXN1_ENST00000402717.3_Missense_Mutation_p.R377C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R377C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R377C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R377C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R377C|NRXN1_ENST00000331040.5_5'UTR	p.R410C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		7	2567	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	377			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1228C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978588	0.74360	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.82433	2.59	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.998;0.999	D	0.90323	0.4346	10	0.87932	D	0	.	19.9037	0.96999	0.0:0.0:1.0:0.0	.	410;377;377	Q9ULB1-3;F8WB18;A7E294	.;.;.	C	410;377;377;377;411;377;377	ENSP00000385142:R410C;ENSP00000384311:R377C;ENSP00000434015:R377C;ENSP00000385017:R377C;ENSP00000385434:R377C;ENSP00000385681:R377C	ENSP00000385017:R377C	R	-	1	0	NRXN1	50703961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.928000	0.87587	2.708000	0.92522	0.557000	0.71058	CGT		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			10	18	0	0	0	1	0	10	18				
DOCK4	9732	broad.mit.edu	37	7	111484843	111484843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111484843C>T	ENST00000437633.1	-	25	2968	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	DOCK4_ENST00000428084.1_Missense_Mutation_p.M904I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	904					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTGGAACCGCATTGCTGAGC	0.512																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2710-2712)atG>atA		dedicator of cytokinesis 4							160.0	159.0	159.0					7																	111484843		2051	4202	6253	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111484843C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2712G>A	7.37:g.111484843C>T	ENSP00000404179:p.Met904Ile					DOCK4_ENST00000437633.1_Missense_Mutation_p.M904I	p.M904I			Q8N1I0	DOCK4_HUMAN			25	2984	-		Acute lymphoblastic leukemia(1;0.0441)	904					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2712G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.79|13.79	2.343152|2.343152	0.41498|0.41498	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.62232	.|0.04;0.04	6.12|6.12	5.23|5.23	0.72850|0.72850	.|.	.|0.240396	.|0.56097	.|N	.|0.000037	T|T	0.47395|0.47395	0.1443|0.1443	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16166	.|0.0;0.01;0.016	.|B;B;B	.|0.20577	.|0.003;0.013;0.03	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.22706	.|T	.|0.39	.|.	10.9772|10.9772	0.47473|0.47473	0.131:0.8027:0.0:0.0662|0.131:0.8027:0.0:0.0662	.|.	.|904;904;904	.|Q149N5;Q8N1I0;Q8N1I0-2	.|.;DOCK4_HUMAN;.	Y|I	356;892|892;904;904;892;903	.|ENSP00000410746:M904I;ENSP00000404179:M904I	.|ENSP00000345432:M892I	C|M	-|-	2|3	0|0	DOCK4|DOCK4	111272079|111272079	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.998000|0.998000	0.95712|0.95712	2.788000|2.788000	0.47806|0.47806	1.567000|1.567000	0.49668|0.49668	0.644000|0.644000	0.83932|0.83932	TGC|ATG		0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		12	160	0	0	0	1	0	12	160				
SLC16A5	9121	broad.mit.edu	37	17	73094231	73094231	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73094231T>C	ENST00000450736.2	+	3	713	c.298T>C	c.(298-300)Tct>Cct	p.S100P	SLC16A5_ENST00000329783.4_Missense_Mutation_p.S100P|SLC16A5_ENST00000538213.2_Missense_Mutation_p.S140P|SLC16A5_ENST00000580123.1_Missense_Mutation_p.S100P|SLC16A5_ENST00000585293.1_3'UTR			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	100					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGCTCCTTCTCTCACAACCT	0.587																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(298-300)Tct>Cct		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						106.0	108.0	107.0					17																	73094231		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73094231T>C	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.298T>C	17.37:g.73094231T>C	ENSP00000390564:p.Ser100Pro					SLC16A5_ENST00000580123.1_Missense_Mutation_p.S100P|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.S100P|SLC16A5_ENST00000538213.2_Missense_Mutation_p.S140P	p.S100P			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	713	+	all_lung(278;0.226)		100					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.298T>C	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	t	8.364	0.833672	0.16820	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.49139	0.79;0.79;0.79	4.59	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.339628	0.35291	N	0.003319	T	0.65196	0.2668	M	0.83774	2.66	0.27241	N	0.959132	D;D	0.62365	0.991;0.991	P;P	0.61201	0.885;0.885	T	0.60979	-0.7155	10	0.66056	D	0.02	.	10.293	0.43608	0.148:0.0:0.0:0.852	.	140;100	B4E288;O15375	.;MOT6_HUMAN	P	100;100;140	ENSP00000330141:S100P;ENSP00000390564:S100P;ENSP00000440212:S140P	ENSP00000330141:S100P	S	+	1	0	SLC16A5	70605826	1.000000	0.71417	0.616000	0.29078	0.335000	0.28730	3.874000	0.56101	0.581000	0.29539	0.375000	0.23000	TCT		0.587	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		9	113	0	0	0	1	0	9	113				
ARV1	64801	broad.mit.edu	37	1	231125862	231125862	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231125862G>T	ENST00000310256.2	+	3	358	c.301G>T	c.(301-303)Gga>Tga	p.G101*	ARV1_ENST00000366658.2_Nonsense_Mutation_p.G61*|ARV1_ENST00000497753.1_3'UTR|AL844165.1_ENST00000516322.1_RNA	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	101			G -> E (in dbSNP:rs35764859).		bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TCAGATCCATGGAAAACTCTG	0.428																																						ENST00000310256.2																			0				breast(3)|large_intestine(2)|lung(2)	7						c.(301-303)Gga>Tga		ARV1 homolog (S. cerevisiae)							208.0	189.0	195.0					1																	231125862		2203	4300	6503	SO:0001587	stop_gained	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231125862G>T	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.301G>T	1.37:g.231125862G>T	ENSP00000312458:p.Gly101*					ARV1_ENST00000366658.2_Nonsense_Mutation_p.G61*|ARV1_ENST00000497753.1_3'UTR	p.G101*	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	3	358	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	101		G -> E (in dbSNP:rs35764859).			A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Nonsense_Mutation	SNP	ENST00000310256.2	37	c.301G>T	CCDS1589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.685925|5.685925	0.96784|0.96784	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000310256;ENST00000366658|ENST00000450711;ENST00000435927	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.055422|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81302	.|0.4794	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78306	.|-0.2255	.|3	0.10902|.	T|.	0.67|.	-15.7062|-15.7062	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	101;61|97;87	.|.	ENSP00000312458:G101X|.	G|M	+|+	1|3	0|0	ARV1|ARV1	229192485|229192485	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	5.646000|5.646000	0.67916|0.67916	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGA|ATG		0.428	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		7	129	1	0	3.09899e-07	1	3.63227e-07	7	129				
GEMIN7	79760	broad.mit.edu	37	19	45593756	45593756	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45593756C>A	ENST00000270257.4	+	3	631	c.384C>A	c.(382-384)acC>acA	p.T128T	GEMIN7_ENST00000591607.1_Silent_p.T128T|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Silent_p.T128T|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000591747.1_Silent_p.T128T|PPP1R37_ENST00000421905.1_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	128					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TTTCATATACCTTCAAGCCAT	0.517																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(382-384)acC>acA		gem (nuclear organelle) associated protein 7							37.0	41.0	40.0					19																	45593756		2198	4282	6480	SO:0001819	synonymous_variant	0				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593756C>A	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.384C>A	19.37:g.45593756C>A						GEMIN7_ENST00000591607.1_Silent_p.T128T|GEMIN7_ENST00000591747.1_Silent_p.T128T|GEMIN7_ENST00000391951.2_Silent_p.T128T	p.T128T	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	631	+		Ovarian(192;0.0728)|all_neural(266;0.112)	128					Q6IA34	Silent	SNP	ENST00000270257.4	37	c.384C>A	CCDS12654.1																																																																																				0.517	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			10	19	1	0	0.0581538	1	0.0593651	10	19				
CUBN	8029	broad.mit.edu	37	10	17151674	17151674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17151674C>T	ENST00000377833.4	-	10	1141	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	359	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGTGGCAGCCTCCATTACT	0.458																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1075-1077)gGc>gAc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						190.0	132.0	151.0					10																	17151674		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17151674C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1076G>A	10.37:g.17151674C>T	ENSP00000367064:p.Gly359Asp						p.G359D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			10	1141	-			359			EGF-like 5.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1076G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517714	0.64634	.	.	ENSG00000107611	ENST00000377833	T	0.70869	-0.52	5.64	4.74	0.60224	EGF domain, merozoite surface protein 1-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.46145	D	0.000314	T	0.77274	0.4106	L	0.48877	1.53	0.80722	D	1	D	0.56968	0.978	D	0.67103	0.949	T	0.74959	-0.3486	10	0.30854	T	0.27	.	13.4258	0.61024	0.0:0.9269:0.0:0.0731	.	359	O60494	CUBN_HUMAN	D	359	ENSP00000367064:G359D	ENSP00000367064:G359D	G	-	2	0	CUBN	17191680	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	4.140000	0.58031	1.530000	0.49136	-0.252000	0.11476	GGC		0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		10	27	0	0	0	1	0	10	27				
USO1	8615	broad.mit.edu	37	4	76730167	76730167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76730167C>T	ENST00000538159.1	+	22	2465	c.2465C>T	c.(2464-2466)aCa>aTa	p.T822I	USO1_ENST00000514213.2_Missense_Mutation_p.T798I			O60763	USO1_HUMAN	USO1 vesicle transport factor	813					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAACTACAGACAGAAAAGCAG	0.338																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2464-2466)aCa>aTa		USO1 vesicle transport factor							71.0	67.0	68.0					4																	76730167		1821	4080	5901	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76730167C>T	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2465C>T	4.37:g.76730167C>T	ENSP00000440586:p.Thr822Ile					USO1_ENST00000514213.2_Missense_Mutation_p.T798I	p.T822I			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		22	2465	+			813					B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.2465C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.792|9.792	1.178167|1.178167	0.21787|0.21787	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	5.72|5.72	1.45|1.45	0.22620|0.22620	.|Armadillo-type fold (1);	.|0.520258	.|0.20995	.|N	.|0.081974	.|T	.|0.25644	.|0.0624	L|L	0.29908|0.29908	0.895|0.895	0.23598|0.23598	N|N	0.997321|0.997321	.|B;B	.|0.24576	.|0.106;0.049	.|B;B	.|0.24006	.|0.05;0.006	.|T	.|0.13202	.|-1.0518	.|9	.|0.44086	.|T	.|0.13	.|.	4.4128|4.4128	0.11441|0.11441	0.161:0.5298:0.0:0.3092|0.161:0.5298:0.0:0.3092	.|.	.|822;813	.|F5GYR8;O60763	.|.;USO1_HUMAN	X|I	489|648;822;798;741	.|.	.|ENSP00000264904:T741I	Q|T	+|+	1|2	0|0	USO1|USO1	76949191|76949191	0.091000|0.091000	0.21658|0.21658	0.900000|0.900000	0.35374|0.35374	0.514000|0.514000	0.34195|0.34195	0.285000|0.285000	0.18883|0.18883	0.338000|0.338000	0.23692|0.23692	-0.282000|-0.282000	0.10007|0.10007	CAG|ACA		0.338	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		6	4	0	0	0	1	0	6	4				
MATN4	8785	broad.mit.edu	37	20	43926995	43926995	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926995G>A	ENST00000372754.1	-	7	1372	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	MATN4_ENST00000537548.1_Missense_Mutation_p.A414V|MATN4_ENST00000353917.5_Missense_Mutation_p.A332V|MATN4_ENST00000372751.4_Missense_Mutation_p.A265V|MATN4_ENST00000372756.1_Missense_Mutation_p.A414V|MATN4_ENST00000360607.6_Missense_Mutation_p.A373V|MATN4_ENST00000342716.4_Missense_Mutation_p.A414V			O95460	MATN4_HUMAN	matrilin 4	455	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTACTCCACGGCCAGGACCGC	0.697																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1240-1242)gCc>gTc		matrilin 4							53.0	48.0	50.0					20																	43926995		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43926995G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1364C>T	20.37:g.43926995G>A	ENSP00000361840:p.Ala455Val					MATN4_ENST00000372751.4_Missense_Mutation_p.A265V|MATN4_ENST00000342716.4_Missense_Mutation_p.A414V|MATN4_ENST00000372754.1_Missense_Mutation_p.A455V|MATN4_ENST00000353917.5_Missense_Mutation_p.A332V|MATN4_ENST00000372753.1_Missense_Mutation_p.A265V|MATN4_ENST00000360607.5_Missense_Mutation_p.A373V|MATN4_ENST00000372756.1_Missense_Mutation_p.A414V	p.A414V			O95460	MATN4_HUMAN			8	1485	-		Myeloproliferative disorder(115;0.0122)	455			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1241C>T		.	.	.	.	.	.	.	.	.	.	G	18.55	3.647628	0.67358	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.34	4.38	0.52667	.	0.000000	0.43919	D	0.000518	T	0.79167	0.4400	L	0.46670	1.46	0.26745	N	0.970311	D;P;P	0.53462	0.96;0.82;0.823	P;P;P	0.55667	0.781;0.466;0.513	T	0.70403	-0.4881	10	0.30078	T	0.28	.	12.0916	0.53730	0.0:0.0:0.5638:0.4362	.	332;373;414	A6NNA4;O95460-4;O95460-2	.;.;.	V	265;455;414;332;373;414;414;455;265	ENSP00000361839:A265V;ENSP00000361840:A455V;ENSP00000361842:A414V;ENSP00000243983:A332V;ENSP00000353819:A373V;ENSP00000343164:A414V;ENSP00000440328:A414V;ENSP00000361837:A265V	ENSP00000255132:A455V	A	-	2	0	MATN4	43360409	0.972000	0.33761	0.841000	0.33234	0.948000	0.59901	1.718000	0.38001	1.226000	0.43582	0.644000	0.83932	GCC		0.697	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			17	20	0	0	0	1	0	17	20				
C3orf58	205428	broad.mit.edu	37	3	143708484	143708484	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:143708484A>G	ENST00000315691.3	+	3	1629	c.1094A>G	c.(1093-1095)cAg>cGg	p.Q365R	C3orf58_ENST00000441925.2_Missense_Mutation_p.Q127R|C3orf58_ENST00000495414.1_Missense_Mutation_p.Q156R|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	365					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGTTTGTCAGAACCTCTTA	0.473																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1093-1095)cAg>cGg		chromosome 3 open reading frame 58							128.0	125.0	126.0					3																	143708484		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143708484A>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1094A>G	3.37:g.143708484A>G	ENSP00000320081:p.Gln365Arg					C3orf58_ENST00000441925.2_Missense_Mutation_p.Q127R|C3orf58_ENST00000495414.1_Missense_Mutation_p.Q156R|C3orf58_ENST00000493396.1_Intron	p.Q365R	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1629	+			365					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.1094A>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	A	9.566	1.119672	0.20877	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.34072	1.38	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	N	0.21240	0.645	0.53688	D	0.999979	B;P	0.48294	0.124;0.908	B;P	0.61397	0.046;0.888	T	0.21655	-1.0239	10	0.25751	T	0.34	.	15.8142	0.78586	1.0:0.0:0.0:0.0	.	156;365	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	R	365;156;171;127	ENSP00000320081:Q365R	ENSP00000320081:Q365R	Q	+	2	0	C3orf58	145191174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.143000	0.66587	0.533000	0.62120	CAG		0.473	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		9	65	0	0	0	1	0	9	65				
GPRIN2	9721	broad.mit.edu	37	10	46999131	46999131	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999131C>A	ENST00000374317.1	+	3	524	c.251C>A	c.(250-252)cCc>cAc	p.P84H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.P84H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	84										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAGGCGCGACCCAGTGCTGGA	0.687																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(250-252)cCc>cAc		G protein regulated inducer of neurite outgrowth 2							30.0	37.0	34.0					10																	46999131		2189	4280	6469	SO:0001583	missense	9721							g.chr10:46999131C>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.251C>A	10.37:g.46999131C>A	ENSP00000363436:p.Pro84His					GPRIN2_ENST00000374317.1_Missense_Mutation_p.P84H	p.P84H			O60269	GRIN2_HUMAN			1	1206	+			84					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.251C>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970740	0.34754	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03413	3.94;3.94	5.53	3.58	0.41010	.	0.754501	0.11407	N	0.567156	T	0.09158	0.0226	L	0.51422	1.61	0.09310	N	1	D	0.54964	0.969	P	0.56216	0.794	T	0.17715	-1.0360	10	0.66056	D	0.02	-0.1337	8.0498	0.30570	0.1776:0.651:0.1714:0.0	.	84	O60269	GRIN2_HUMAN	H	84	ENSP00000363436:P84H;ENSP00000363433:P84H	ENSP00000363433:P84H	P	+	2	0	GPRIN2	46419137	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	-0.144000	0.10280	2.774000	0.95407	0.650000	0.86243	CCC		0.687	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		10	55	1	0	0.00010058	1	0.000111121	10	55				
GRIN2C	2905	broad.mit.edu	37	17	72846006	72846006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72846006C>T	ENST00000293190.5	-	7	1704	c.1558G>A	c.(1558-1560)Gta>Ata	p.V520I	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.V520I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	520					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAGAAGTCTACGATCTCGGAG	0.607																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1558-1560)Gta>Ata		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						108.0	99.0	102.0					17																	72846006		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846006C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1558G>A	17.37:g.72846006C>T	ENSP00000293190:p.Val520Ile					GRIN2C_ENST00000347612.4_Missense_Mutation_p.V520I	p.V520I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			7	1704	-	all_lung(278;0.172)|Lung NSC(278;0.207)		520					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1558G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317909	0.40996	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.31769	1.48	4.19	3.2	0.36748	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.153837	0.44285	N	0.000479	T	0.19485	0.0468	N	0.25647	0.755	0.39382	D	0.966271	B;B	0.25719	0.132;0.001	B;B	0.26864	0.074;0.024	T	0.05835	-1.0861	10	0.12766	T	0.61	.	11.4274	0.50018	0.0:0.9092:0.0:0.0908	.	554;520	Q8IW23;Q14957	.;NMDE3_HUMAN	I	520;554	ENSP00000293190:V520I	ENSP00000293190:V520I	V	-	1	0	GRIN2C	70357601	0.985000	0.35326	0.922000	0.36590	0.936000	0.57629	2.350000	0.44063	1.064000	0.40671	0.491000	0.48974	GTA		0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			34	41	0	0	0	1	0	34	41				
IRF6	3664	broad.mit.edu	37	1	209963041	209963041	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209963041G>A	ENST00000367021.3	-	8	1322	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	IRF6_ENST00000542854.1_Missense_Mutation_p.P289S|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	384					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTCCAATGGTTTCCCATCT	0.463										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(1150-1152)Cca>Tca		interferon regulatory factor 6							164.0	136.0	146.0					1																	209963041		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963041G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1150C>T	1.37:g.209963041G>A	ENSP00000355988:p.Pro384Ser	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Missense_Mutation_p.P289S	p.P384S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	8	1322	-			384					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.1150C>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031124	0.54790	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95821	-3.82;-3.82	6.05	6.05	0.98169	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.145151	0.64402	D	0.000005	D	0.93070	0.7794	L	0.54323	1.7	0.58432	D	0.999995	B	0.27823	0.19	B	0.31337	0.128	D	0.88760	0.3256	9	.	.	.	.	10.8591	0.46817	0.139:0.0:0.861:0.0	.	384	O14896	IRF6_HUMAN	S	384;289	ENSP00000355988:P384S;ENSP00000440532:P289S	.	P	-	1	0	IRF6	208029664	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	5.199000	0.65152	2.866000	0.98385	0.650000	0.86243	CCA		0.463	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		21	38	0	0	0	1	0	21	38				
RSF1	51773	broad.mit.edu	37	11	77412657	77412657	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412657A>G	ENST00000308488.6	-	6	1919	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	RSF1_ENST00000480887.1_Silent_p.T287T|RSF1_ENST00000360355.2_Silent_p.T508T			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	539					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AATCAAGAGAAGTTTCCATTT	0.413																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1615-1617)acT>acC		remodeling and spacing factor 1							168.0	171.0	170.0					11																	77412657		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412657A>G	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1617T>C	11.37:g.77412657A>G						RSF1_ENST00000360355.2_Silent_p.T508T|RSF1_ENST00000480887.1_Silent_p.T287T	p.T539T			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1919	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		539					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.1617T>C	CCDS8253.1																																																																																				0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		90	168	0	0	0	1	0	90	168				
TTN	7273	broad.mit.edu	37	2	179613474	179613474	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179613474C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Q4551H			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTTTTTCCTGTTGTTCCC	0.318																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13651-13653)caG>caT		titin							96.0	98.0	97.0					2																	179613474		2203	4295	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613474C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4376G>T	2.37:g.179613474C>A						TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	p.Q4551H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13875	-			683			Ig-like 25.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13653G>T		.	.	.	.	.	.	.	.	.	.	C	10.47	1.359436	0.24598	.	.	ENSG00000155657	ENST00000360870	T	0.60424	0.19	5.67	1.59	0.23543	.	.	.	.	.	T	0.40498	0.1119	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.25363	-1.0134	9	0.36615	T	0.2	.	6.5917	0.22649	0.1131:0.6193:0.0:0.2676	.	4551	Q8WZ42-6	.	H	4551	ENSP00000354117:Q4551H	ENSP00000354117:Q4551H	Q	-	3	2	TTN	179321719	0.000000	0.05858	0.036000	0.18154	0.031000	0.12232	-0.215000	0.09279	0.261000	0.21753	0.563000	0.77884	CAG		0.318	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	69	1	0	0.00909568	1	0.00947522	4	69				
VPS13B	157680	broad.mit.edu	37	8	100286531	100286531	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100286531G>A	ENST00000358544.2	+	18	2732	c.2621G>A	c.(2620-2622)gGa>gAa	p.G874E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G874E|VPS13B_ENST00000395996.1_Missense_Mutation_p.G874E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	874					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGGACCATGGGATCAATAAAA	0.448																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2620-2622)gGa>gAa		vacuolar protein sorting 13 homolog B (yeast)							97.0	102.0	100.0					8																	100286531		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100286531G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2621G>A	8.37:g.100286531G>A	ENSP00000351346:p.Gly874Glu					VPS13B_ENST00000358544.2_Missense_Mutation_p.G874E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G874E	p.G874E			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		18	2732	+	Breast(36;3.73e-07)		874					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2621G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797101	0.70567	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.69175	-0.38;-0.38;-0.08	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.74496	0.3724	L	0.32530	0.975	0.53005	D	0.999962	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.995;1.0	T	0.67542	-0.5644	10	0.20519	T	0.43	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	874;874;874;874	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	E	874	ENSP00000349685:G874E;ENSP00000351346:G874E;ENSP00000379318:G874E	ENSP00000349685:G874E	G	+	2	0	VPS13B	100355707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.418000	0.80167	2.826000	0.97356	0.563000	0.77884	GGA		0.448	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		23	63	0	0	0	1	0	23	63				
ZNF85	7639	broad.mit.edu	37	19	21131627	21131627	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131627A>C	ENST00000328178.8	+	4	420	c.307A>C	c.(307-309)Aga>Cga	p.R103R	ZNF85_ENST00000345030.6_Silent_p.R70R|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000601023.1_Silent_p.R44R	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	103					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GACACTGAAAAGATATGGAAA	0.348																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(130-132)Aga>Cga		zinc finger protein 85							58.0	60.0	59.0					19																	21131627		2203	4297	6500	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131627A>C	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.307A>C	19.37:g.21131627A>C						ZNF85_ENST00000328178.8_Silent_p.R103R|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.R70R	p.R44R			Q03923	ZNF85_HUMAN			2	776	+			103			KRAB.		B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.130A>C	CCDS32977.1																																																																																				0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		32	43	0	0	0	1	0	32	43				
VN1R2	317701	broad.mit.edu	37	19	53761868	53761868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53761868C>T	ENST00000341702.3	+	1	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(238-240)caC>caT		vomeronasal 1 receptor 2							40.0	40.0	40.0					19																	53761868		2191	4286	6477	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53761868C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.240C>T	19.37:g.53761868C>T							p.H80H	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	324	+			80					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.240C>T	CCDS12862.1																																																																																				0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		3	6	0	0	0	1	0	3	6				
PORCN	64840	broad.mit.edu	37	X	48368273	48368273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48368273C>T	ENST00000326194.6	+	1	108	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PORCN_ENST00000359882.4_Missense_Mutation_p.A22V|PORCN_ENST00000537758.1_Missense_Mutation_p.A22V|PORCN_ENST00000355961.4_Missense_Mutation_p.A22V|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000361988.3_Missense_Mutation_p.A22V|PORCN_ENST00000355092.3_Missense_Mutation_p.A22V|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000486272.1_Intron	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	22	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCCTACTGCCCAGCAGGGC	0.607																																						ENST00000359882.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(64-66)gCc>gTc		porcupine homolog (Drosophila)							64.0	54.0	57.0					X																	48368273		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48368273C>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.65C>T	X.37:g.48368273C>T	ENSP00000322304:p.Ala22Val					PORCN_ENST00000355092.3_Missense_Mutation_p.A22V|PORCN_ENST00000486272.1_Intron|PORCN_ENST00000537758.1_Missense_Mutation_p.A22V|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000361988.3_Missense_Mutation_p.A22V|PORCN_ENST00000355961.4_Missense_Mutation_p.A22V|PORCN_ENST00000326194.6_Missense_Mutation_p.A22V	p.A22V			Q9H237	PORCN_HUMAN			2	244	+			22			Leu-rich.		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.65C>T	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	C	6.645	0.487580	0.12641	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.97328	-3.37;-4.34;-3.34;-2.29;-3.35;-4.34;-3.37	5.31	3.42	0.39159	.	0.198772	0.42420	N	0.000709	D	0.90882	0.7135	N	0.25060	0.705	0.80722	D	1	B;B;B;B;B	0.24043	0.001;0.0;0.001;0.0;0.096	B;B;B;B;B	0.25614	0.006;0.0;0.006;0.002;0.062	T	0.82416	-0.0468	10	0.02654	T	1	-3.2751	7.8565	0.29485	0.0:0.795:0.0:0.205	.	22;22;22;22;22	Q9H237-3;Q9H237;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.	V	22	ENSP00000352946:A22V;ENSP00000446401:A22V;ENSP00000348233:A22V;ENSP00000419212:A22V;ENSP00000354978:A22V;ENSP00000322304:A22V;ENSP00000347207:A22V	ENSP00000322304:A22V	A	+	2	0	PORCN	48253217	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.361000	0.44160	0.373000	0.24621	0.436000	0.28706	GCC		0.607	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		10	36	0	0	0	1	0	10	36				
KCND1	3750	broad.mit.edu	37	X	48819929	48819929	+	Silent	SNP	G	G	A	rs376402129		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48819929G>A	ENST00000218176.3	-	6	3154	c.1857C>T	c.(1855-1857)ggC>ggT	p.G619G	KCND1_ENST00000376477.1_Silent_p.G242G	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	619					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CCCTGCCACCGCCGCCAGGGG	0.637																																						ENST00000218176.3																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1855-1857)ggC>ggT		potassium voltage-gated channel, Shal-related subfamily, member 1				1,3834		0,1,1631,571	33.0	29.0	30.0		1857	-1.9	0.0	X		30	0,6728		0,0,2428,1872	no	coding-synonymous	KCND1	NM_004979.4		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		619/648	48819929	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48819929G>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1857C>T	X.37:g.48819929G>A						KCND1_ENST00000376477.1_Silent_p.G242G	p.G619G	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN			6	3154	-			619					A6NEF1|B2RCG0|O75671	Silent	SNP	ENST00000218176.3	37	c.1857C>T	CCDS14314.1																																																																																				0.637	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		9	15	0	0	0	1	0	9	15				
VANGL1	81839	broad.mit.edu	37	1	116227955	116227955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116227955G>A	ENST00000355485.2	+	7	1392	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	VANGL1_ENST00000369510.4_Missense_Mutation_p.R372H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R374H|VANGL1_ENST00000369509.1_Missense_Mutation_p.R374H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	374					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACATTCAGCGTCTCCAGGCT	0.587																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(1120-1122)cGt>cAt		VANGL planar cell polarity protein 1							67.0	59.0	61.0					1																	116227955		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116227955G>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1121G>A	1.37:g.116227955G>A	ENSP00000347672:p.Arg374His					VANGL1_ENST00000369509.1_Missense_Mutation_p.R374H|VANGL1_ENST00000369510.3_Missense_Mutation_p.R372H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R374H	p.R374H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	7	1392	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	374					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1121G>A	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677010	0.68042	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.88570	2.965	0.80722	D	1	B;B	0.11235	0.003;0.004	B;B	0.12837	0.005;0.008	D	0.84536	0.0636	10	0.66056	D	0.02	-3.2269	13.6909	0.62544	0.0733:0.0:0.9267:0.0	.	372;374	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	H	374;372;374;374	ENSP00000347672:R374H;ENSP00000358523:R372H;ENSP00000310800:R374H;ENSP00000358522:R374H	ENSP00000310800:R374H	R	+	2	0	VANGL1	116029478	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.672000	0.83956	2.835000	0.97688	0.591000	0.81541	CGT		0.587	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			17	39	0	0	0	1	0	17	39				
WDR81	124997	broad.mit.edu	37	17	1640869	1640869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1640869A>G	ENST00000409644.1	+	10	5716	c.5716A>G	c.(5716-5718)Aag>Gag	p.K1906E	WDR81_ENST00000446363.1_Missense_Mutation_p.K545E|WDR81_ENST00000419248.1_Missense_Mutation_p.K679E|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.K537E|WDR81_ENST00000309182.5_Missense_Mutation_p.K855E|WDR81_ENST00000437219.2_Missense_Mutation_p.K703E	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1906					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCACCACGAAGCTCAGCTC	0.627																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(5716-5718)Aag>Gag		WD repeat domain 81							135.0	90.0	106.0					17																	1640869		2200	4299	6499	SO:0001583	missense	124997							g.chr17:1640869A>G	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5716A>G	17.37:g.1640869A>G	ENSP00000386609:p.Lys1906Glu					WDR81_ENST00000446363.1_Missense_Mutation_p.K545E|WDR81_ENST00000437219.2_Missense_Mutation_p.K703E|WDR81_ENST00000419248.1_Missense_Mutation_p.K679E|WDR81_ENST00000309182.5_Missense_Mutation_p.K855E|WDR81_ENST00000545662.1_Missense_Mutation_p.K537E|RP11-961A15.1_ENST00000576540.1_RNA	p.K1906E	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	5716	+			679					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.5716A>G	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887656	0.72410	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.01295	5.04;5.04;5.04;5.04;5.04;5.04	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.356997	0.27677	N	0.018308	T	0.08891	0.0220	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.996	T	0.01516	-1.1335	10	0.56958	D	0.05	.	14.4584	0.67433	1.0:0.0:0.0:0.0	.	537;703;855	B7Z6V3;B7Z579;Q562E7	.;.;WDR81_HUMAN	E	703;855;545;679;1906;657;537	ENSP00000391074:K703E;ENSP00000312074:K855E;ENSP00000401560:K545E;ENSP00000407845:K679E;ENSP00000386609:K1906E;ENSP00000442726:K537E	ENSP00000312074:K855E	K	+	1	0	WDR81	1587619	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	9.210000	0.95106	1.821000	0.53095	0.528000	0.53228	AAG		0.627	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		3	29	0	0	0	1	0	3	29				
ARID3B	10620	broad.mit.edu	37	15	74884148	74884148	+	Silent	SNP	C	C	T	rs149040930	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74884148C>T	ENST00000346246.5	+	7	1644	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	471	REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCAGGATCAACGGCAGGGGTG	0.642																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1411-1413)aaC>aaT		AT rich interactive domain 3B (BRIGHT-like)		C		1,4391		0,1,2195	44.0	45.0	45.0		1413	-4.2	0.7	15	dbSNP_134	45	4,8588		0,4,4292	no	coding-synonymous	ARID3B	NM_006465.2		0,5,6487	TT,TC,CC		0.0466,0.0228,0.0385		471/561	74884148	5,12979	2196	4296	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74884148C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1413C>T	15.37:g.74884148C>T							p.N471N	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			7	1644	+			471			REKLES.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1413C>T	CCDS10264.1																																																																																				0.642	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		10	31	0	0	0	1	0	10	31				
SNUPN	10073	broad.mit.edu	37	15	75890978	75890978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75890978G>A	ENST00000564644.1	-	10	1382	c.804C>T	c.(802-804)ccC>ccT	p.P268P	SNUPN_ENST00000564675.1_Silent_p.P268P|SNUPN_ENST00000308588.5_Silent_p.P268P|SNUPN_ENST00000371091.5_Silent_p.P310P|SNUPN_ENST00000567134.1_Silent_p.P268P|CTD-2323K18.1_ENST00000568707.1_RNA			O95149	SPN1_HUMAN	snurportin 1	268	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GAGTGCTTCCGGGGCTGTAGT	0.552																																						ENST00000371091.5																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.(928-930)ccC>ccT		snurportin 1							103.0	117.0	112.0					15																	75890978		2197	4292	6489	SO:0001819	synonymous_variant	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75890978G>A	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.804C>T	15.37:g.75890978G>A						CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Silent_p.P268P|SNUPN_ENST00000308588.5_Silent_p.P268P|SNUPN_ENST00000564644.1_Silent_p.P268P|SNUPN_ENST00000564675.1_Silent_p.P268P	p.P310P			O95149	SPN1_HUMAN			10	1382	-			268			Necessary for binding to the m3G-cap structure.		A6NE34|A8K0B0|D3DW76	Silent	SNP	ENST00000564644.1	37	c.930C>T	CCDS10281.1																																																																																				0.552	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		76	132	0	0	0	1	0	76	132				
MYRIP	25924	broad.mit.edu	37	3	40192659	40192659	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40192659G>A	ENST00000302541.6	+	4	795	c.453G>A	c.(451-453)gcG>gcA	p.A151A	MYRIP_ENST00000425621.1_Silent_p.A151A|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000444716.1_Silent_p.A151A|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	151	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGTGGCGCGTGCTTCGACA	0.562																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(451-453)gcG>gcA		myosin VIIA and Rab interacting protein							30.0	32.0	31.0					3																	40192659		2203	4299	6502	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40192659G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.453G>A	3.37:g.40192659G>A						MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000425621.1_Silent_p.A151A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.A151A|MYRIP_ENST00000539167.1_5'UTR	p.A151A	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	4	795	+			151			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.453G>A	CCDS2689.1																																																																																				0.562	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		12	11	0	0	0	1	0	12	11				
VNN3	55350	broad.mit.edu	37	6	133044935	133044935	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133044935G>A	ENST00000207771.3	-	7	1384	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000414302.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	439					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.R438S(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAAACATAACGCGTTCCAAAT	0.468																																						ENST00000207771.3																			1	Substitution - Missense(1)	p.R438S(1)	lung(1)	cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(1312-1314)Cgt>Tgt		vanin 3							40.0	36.0	37.0					6																	133044935		876	1991	2867	SO:0001583	missense	55350							g.chr6:133044935G>A	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1312C>T	6.37:g.133044935G>A	ENSP00000440594:p.Arg438Cys					VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR	p.R438C						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	7	1384	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000207771.3	37	c.1312C>T		.	.	.	.	.	.	.	.	.	.	G	9.625	1.134817	0.21123	.	.	ENSG00000093134	ENST00000207771	D	0.89415	-2.51	4.86	0.844	0.18943	.	1.073890	0.07225	U	0.861447	T	0.76371	0.3978	.	.	.	0.09310	N	0.999999	P	0.50272	0.933	B	0.41860	0.368	T	0.66586	-0.5886	9	0.59425	D	0.04	0.0	9.0919	0.36617	0.1117:0.0:0.4894:0.3989	.	439	Q9NY84	VNN3_HUMAN	C	438	ENSP00000440594:R438C	ENSP00000440594:R438C	R	-	1	0	VNN3	133086628	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.685000	0.25378	-0.046000	0.13446	-0.293000	0.09583	CGT		0.468	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290		12	12	0	0	0	1	0	12	12				
SHBG	6462	broad.mit.edu	37	17	7533526	7533526	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7533526G>A	ENST00000380450.4	+	1	67	c.36G>A	c.(34-36)ctG>ctA	p.L12L	SHBG_ENST00000575903.1_Silent_p.L12L|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000416273.3_Silent_p.L12L|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000570547.1_Intron|SAT2_ENST00000380466.2_5'Flank|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000441599.2_Silent_p.L12L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	12					primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	CCTCGCGCctgctgctgttgc	0.622																																						ENST00000380450.4																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(34-36)ctG>ctA		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						66.0	55.0	58.0					17																	7533526		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7533526G>A		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.36G>A	17.37:g.7533526G>A						SHBG_ENST00000575903.1_Silent_p.L12L|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000416273.3_Silent_p.L12L|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Silent_p.L12L	p.L12L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	1	67	+		all_cancers(10;0.0867)	12					B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.36G>A	CCDS11117.1																																																																																				0.622	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		4	11	0	0	0	1	0	4	11				
UBR4	23352	broad.mit.edu	37	1	19493516	19493516	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19493516C>A	ENST00000375254.3	-	29	4136	c.4109G>T	c.(4108-4110)aGt>aTt	p.S1370I	UBR4_ENST00000375226.2_Splice_Site_p.S1370I|UBR4_ENST00000375267.2_Splice_Site_p.S1370I|UBR4_ENST00000375217.2_Splice_Site_p.S1370I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1370					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGGCTCACCTGTTAGGATC	0.443																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.e29+1		ubiquitin protein ligase E3 component n-recognin 4							132.0	118.0	123.0					1																	19493516		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19493516C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4109+1G>T	1.37:g.19493516C>A						UBR4_ENST00000375254.3_Splice_Site_p.S1370_splice|UBR4_ENST00000375217.2_Splice_Site_p.S1370_splice|UBR4_ENST00000375226.2_Splice_Site_p.S1370_splice	p.S1370_splice			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	29	4112	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1370					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	SNP	ENST00000375254.3	37	c.4109_splice	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573897	0.86542	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.15	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.71234	-0.4653	9	.	.	.	.	19.3885	0.94566	0.0:1.0:0.0:0.0	.	1370	Q5T4S7	UBR4_HUMAN	I	1370;1370;1370;1370;80;586	ENSP00000364403:S1370I;ENSP00000364416:S1370I;ENSP00000364365:S1370I;ENSP00000364374:S1370I;ENSP00000404897:S80I	.	S	-	2	0	UBR4	19366103	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.424000	0.80242	2.678000	0.91216	0.585000	0.79938	AGT		0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Missense_Mutation	10	61	1	0	0.00621372	1	0.00652201	10	61				
LRGUK	136332	broad.mit.edu	37	7	133881836	133881836	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133881836C>T	ENST00000285928.2	+	13	1593	c.1524C>T	c.(1522-1524)agC>agT	p.S508S		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	508	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GTTTGGCAAGCTGTATTCATA	0.373																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1522-1524)agC>agT		leucine-rich repeats and guanylate kinase domain containing							175.0	161.0	166.0					7																	133881836		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133881836C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1524C>T	7.37:g.133881836C>T							p.S508S	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			13	1593	+			508			Guanylate kinase-like.		Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.1524C>T	CCDS5830.1																																																																																				0.373	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		50	59	0	0	0	1	0	50	59				
LDB3	11155	broad.mit.edu	37	10	88485985	88485985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88485985G>A	ENST00000361373.4	+	12	2091	c.2070G>A	c.(2068-2070)tgG>tgA	p.W690*	LDB3_ENST00000429277.2_Nonsense_Mutation_p.W695*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.W580*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.W433*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.W580*	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCACACTTGGCACGACACCT	0.547																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(2083-2085)tgG>tgA		LIM domain binding 3							127.0	98.0	108.0					10																	88485985		2203	4300	6503	SO:0001587	stop_gained	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88485985G>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.2070G>A	10.37:g.88485985G>A	ENSP00000355296:p.Trp690*					LDB3_ENST00000458213.2_Nonsense_Mutation_p.W580*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.W580*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.W433*|LDB3_ENST00000361373.4_Nonsense_Mutation_p.W690*	p.W695*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			13	2230	+			690			LIM zinc-binding 3.			Nonsense_Mutation	SNP	ENST00000361373.4	37	c.2085G>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	38	7.236452	0.98154	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	.	.	.	5.54	5.54	0.83059	.	0.000000	0.30565	N	0.009341	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4692	0.94956	0.0:0.0:1.0:0.0	.	.	.	.	X	611;695;580;433;580;690	.	ENSP00000263066:W580X	W	+	3	0	LDB3	88475965	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.621000	0.88768	0.563000	0.77884	TGG		0.547	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			11	15	0	0	0	1	0	11	15				
PAPPA2	60676	broad.mit.edu	37	1	176679142	176679142	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176679142T>C	ENST00000367662.3	+	11	4645	c.3481T>C	c.(3481-3483)Tat>Cat	p.Y1161H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1161					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGCTACATGTATGAGGGAGA	0.418																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3481-3483)Tat>Cat		pappalysin 2							120.0	112.0	115.0					1																	176679142		1896	4122	6018	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176679142T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3481T>C	1.37:g.176679142T>C	ENSP00000356634:p.Tyr1161His						p.Y1161H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			11	4645	+			1161					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3481T>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.897273	0.00517	.	.	ENSG00000116183	ENST00000367662	T	0.39592	1.07	5.76	0.851	0.18989	.	0.497511	0.24330	N	0.039473	T	0.18759	0.0450	N	0.12443	0.215	0.32587	N	0.527768	B	0.09022	0.002	B	0.06405	0.002	T	0.40608	-0.9554	10	0.02654	T	1	-5.0418	10.3678	0.44035	0.0:0.4941:0.0:0.5059	.	1161	Q9BXP8	PAPP2_HUMAN	H	1161	ENSP00000356634:Y1161H	ENSP00000356634:Y1161H	Y	+	1	0	PAPPA2	174945765	0.984000	0.35163	0.025000	0.17156	0.222000	0.24845	1.723000	0.38053	-0.097000	0.12307	-0.250000	0.11733	TAT		0.418	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	80	0	0	0	1	0	21	80				
BEX1	55859	broad.mit.edu	37	X	102317981	102317981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102317981C>A	ENST00000372728.3	-	3	461	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	74					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCATCCTTGCCTGTGGTTCTC	0.507																																						ENST00000372728.3																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(220-222)caG>caT		brain expressed, X-linked 1							247.0	191.0	210.0					X																	102317981		2203	4300	6503	SO:0001583	missense	55859				cell differentiation|nervous system development	cytoplasm|nucleus		g.chrX:102317981C>A		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.222G>T	X.37:g.102317981C>A	ENSP00000361813:p.Gln74His						p.Q74H	NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN			3	461	-			74					A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	c.222G>T	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166928	0.38217	.	.	ENSG00000133169	ENST00000372728	T	0.10192	2.9	3.25	2.35	0.29111	.	1.238380	0.05838	N	0.618839	T	0.32526	0.0832	M	0.78223	2.4	0.31194	N	0.700606	D	0.89917	1.0	D	0.91635	0.999	T	0.04579	-1.0941	10	0.44086	T	0.13	.	6.7515	0.23489	0.2789:0.7211:0.0:0.0	.	74	Q9HBH7	BEX1_HUMAN	H	74	ENSP00000361813:Q74H	ENSP00000361813:Q74H	Q	-	3	2	BEX1	102204637	0.003000	0.15002	0.943000	0.38184	0.988000	0.76386	0.666000	0.25097	0.717000	0.32145	0.600000	0.82982	CAG		0.507	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		16	151	1	0	2.35188e-11	1	2.93101e-11	16	151				
KHSRP	8570	broad.mit.edu	37	19	6420462	6420462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6420462T>C	ENST00000398148.3	-	5	538	c.446A>G	c.(445-447)tAc>tGc	p.Y149C		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	149	Gly-rich.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGGACCCTGTACTCTTCTGT	0.577																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(445-447)tAc>tGc		KH-type splicing regulatory protein							62.0	67.0	66.0					19																	6420462		2040	4187	6227	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6420462T>C	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.446A>G	19.37:g.6420462T>C	ENSP00000381216:p.Tyr149Cys						p.Y149C	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			5	538	-			149			Gly-rich.|KH 1.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.446A>G	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268566	0.23136	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.29655	1.56	4.88	4.88	0.63580	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.351101	0.31589	N	0.007400	T	0.33118	0.0852	L	0.52206	1.635	0.49051	D	0.999742	B	0.17465	0.022	B	0.30105	0.111	T	0.16748	-1.0392	10	0.59425	D	0.04	.	13.6099	0.62071	0.0:0.0:0.0:1.0	.	149	Q92945	FUBP2_HUMAN	C	149;149;105	ENSP00000381216:Y149C	ENSP00000201886:Y149C	Y	-	2	0	KHSRP	6371462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.524000	0.35942	2.034000	0.60081	0.533000	0.62120	TAC		0.577	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			8	15	0	0	0	1	0	8	15				
FBXO30	84085	broad.mit.edu	37	6	146127055	146127055	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127055G>T	ENST00000237281.4	-	2	653	c.487C>A	c.(487-489)Cca>Aca	p.P163T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	163							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGTATTTCTGGGACACTTGAT	0.393																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(487-489)Cca>Aca		F-box protein 30							172.0	172.0	172.0					6																	146127055		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127055G>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.487C>A	6.37:g.146127055G>T	ENSP00000237281:p.Pro163Thr						p.P163T	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	653	-		Ovarian(120;0.0776)	163					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.487C>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	G	5.112	0.206376	0.09704	.	.	ENSG00000118496	ENST00000237281	T	0.12361	2.69	5.82	3.12	0.35913	.	0.353337	0.32884	N	0.005530	T	0.02807	0.0084	L	0.40543	1.245	0.23537	N	0.997464	B	0.12630	0.006	B	0.14023	0.01	T	0.46442	-0.9191	10	0.16896	T	0.51	-2.1483	6.0453	0.19755	0.2048:0.0:0.663:0.1321	.	163	Q8TB52	FBX30_HUMAN	T	163	ENSP00000237281:P163T	ENSP00000237281:P163T	P	-	1	0	FBXO30	146168748	0.961000	0.32948	0.974000	0.42286	0.918000	0.54935	1.630000	0.37081	0.394000	0.25230	0.585000	0.79938	CCA		0.393	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			17	158	1	0	1.02788e-11	1	1.28409e-11	17	158				
KMT2B	9757	broad.mit.edu	37	19	36210784	36210784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36210784C>T	ENST00000222270.7	+	3	535	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	KMT2B_ENST00000341701.1_Missense_Mutation_p.R179W|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R179W	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	179					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GACCCCTGCCCGGAAACGGGG	0.667																																						ENST00000420124.1																			0											c.(535-537)Cgg>Tgg									39.0	46.0	44.0					19																	36210784		1958	4130	6088	SO:0001583	missense	0							g.chr19:36210784C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.535C>T	19.37:g.36210784C>T	ENSP00000222270:p.Arg179Trp					WBP7_ENST00000341701.1_Missense_Mutation_p.R179W|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.R179W	p.R179W							3	535	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.535C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694169	0.68386	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.86164	-2.08;-2.08;0.48	5.59	4.52	0.55395	.	0.000000	0.37906	N	0.001881	D	0.86539	0.5957	N	0.14661	0.345	0.36310	D	0.857619	D	0.89917	1.0	D	0.77557	0.99	D	0.89361	0.3668	10	0.72032	D	0.01	.	11.9047	0.52703	0.173:0.827:0.0:0.0	.	179	Q9UMN6	MLL4_HUMAN	W	179	ENSP00000222270:R179W;ENSP00000398837:R179W;ENSP00000345761:R179W	ENSP00000222270:R179W	R	+	1	2	AD000671.1	40902624	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.394000	0.44450	2.632000	0.89209	0.561000	0.74099	CGG		0.667	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		23	34	0	0	0	1	0	23	34				
ITIH6	347365	broad.mit.edu	37	X	54784182	54784182	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54784182A>G	ENST00000218436.6	-	8	2354	c.2325T>C	c.(2323-2325)acT>acC	p.T775T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	775	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CACATTTCACAGTGTCAGCTT	0.532																																						ENST00000218436.6																			0											c.(2323-2325)acT>acC		inter-alpha-trypsin inhibitor heavy chain family, member 6							117.0	103.0	108.0					X																	54784182		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784182A>G	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2325T>C	X.37:g.54784182A>G							p.T775T	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2354	-			775			Pro-rich.		A6NN03	Silent	SNP	ENST00000218436.6	37	c.2325T>C	CCDS14361.1																																																																																				0.532	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		6	66	0	0	0	1	0	6	66				
DDX10	1662	broad.mit.edu	37	11	108547831	108547831	+	Missense_Mutation	SNP	G	G	A	rs368093274		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108547831G>A	ENST00000322536.3	+	4	527	c.398G>A	c.(397-399)cGt>cAt	p.R133H	DDX10_ENST00000526794.1_Missense_Mutation_p.R133H	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	133	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCCTTATATCGTCTGCAATGG	0.453			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(397-399)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	124.0	117.0	119.0		398	5.9	1.0	11		119	0,8596		0,0,4298	no	missense	DDX10	NM_004398.2	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	133/876	108547831	1,12997	2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108547831G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.398G>A	11.37:g.108547831G>A	ENSP00000314348:p.Arg133His					DDX10_ENST00000322536.3_Missense_Mutation_p.R133H	p.R133H			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	4	430	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	133			Helicase ATP-binding.		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.398G>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707424	0.89018	2.27E-4	0.0	ENSG00000178105	ENST00000322536;ENST00000526794	T;T	0.15487	2.42;2.42	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.66560	2.04	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.48840	0.592;0.592	T	0.03051	-1.1078	10	0.13470	T	0.59	-8.1073	20.4107	0.99016	0.0:0.0:1.0:0.0	.	133;133	Q13206;E9PIF2	DDX10_HUMAN;.	H	133	ENSP00000314348:R133H;ENSP00000432032:R133H	ENSP00000314348:R133H	R	+	2	0	DDX10	108053041	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.791000	0.99081	2.834000	0.97654	0.505000	0.49811	CGT		0.453	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		30	71	0	0	0	1	0	30	71				
PPP2R2A	5520	broad.mit.edu	37	8	26217769	26217769	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26217769G>T	ENST00000380737.3	+	5	760	c.431G>T	c.(430-432)aGa>aTa	p.R144I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.R154I	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	144					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAGGTATAGAGATCCTACT	0.343																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(430-432)aGa>aTa		protein phosphatase 2, regulatory subunit B, alpha							93.0	94.0	93.0					8																	26217769		2203	4298	6501	SO:0001583	missense	5520							g.chr8:26217769G>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.431G>T	8.37:g.26217769G>T	ENSP00000370113:p.Arg144Ile					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.R154I	p.R144I	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	5	760	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.431G>T	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468496	0.63625	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.33216	1.43;1.42	5.18	5.18	0.71444	WD40 repeat-like-containing domain (1);	0.112278	0.64402	U	0.000015	T	0.29389	0.0732	L	0.37561	1.115	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.12156	0.007;0.004	T	0.03662	-1.1015	10	0.44086	T	0.13	-6.322	19.0947	0.93246	0.0:0.0:1.0:0.0	.	154;144	B4E1T7;P63151	.;2ABA_HUMAN	I	144;154	ENSP00000370113:R144I;ENSP00000325074:R154I	ENSP00000325074:R154I	R	+	2	0	PPP2R2A	26273686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.808000	0.47963	2.593000	0.87608	0.585000	0.79938	AGA		0.343	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		8	57	1	0	0.00307968	1	0.00325696	8	57				
LDOC1L	84247	broad.mit.edu	37	22	44892773	44892773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892773C>T	ENST00000341255.3	-	2	1173	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	222										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCGTTGGAAGCTGGATGCACT	0.617																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(664-666)Gct>Act		leucine zipper, down-regulated in cancer 1-like							45.0	49.0	47.0					22																	44892773		2203	4298	6501	SO:0001583	missense	84247							g.chr22:44892773C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.664G>A	22.37:g.44892773C>T	ENSP00000340434:p.Ala222Thr						p.A222T	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	1173	-		Ovarian(80;0.024)|all_neural(38;0.0416)	222					Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	c.664G>A	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410134	0.83340	.	.	ENSG00000188636	ENST00000341255	T	0.25749	1.78	3.18	3.18	0.36537	.	0.386473	0.18671	N	0.134455	T	0.25457	0.0619	N	0.08118	0	0.31582	N	0.654967	D	0.60575	0.988	P	0.62885	0.908	T	0.16453	-1.0402	10	0.87932	D	0	-15.0652	10.1122	0.42570	0.0:1.0:0.0:0.0	.	222	Q6ICC9	LDOCL_HUMAN	T	222	ENSP00000340434:A222T	ENSP00000340434:A222T	A	-	1	0	LDOC1L	43271437	0.999000	0.42202	0.996000	0.52242	0.914000	0.54420	3.052000	0.49893	2.082000	0.62665	0.555000	0.69702	GCT		0.617	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		28	47	0	0	0	1	0	28	47				
SLC27A5	10998	broad.mit.edu	37	19	59009889	59009889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009889C>A	ENST00000263093.2	-	10	2175	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_Missense_Mutation_p.R94M|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R605M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	689					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGATCAGAGCCTCCAGGTTCC	0.607																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2065-2067)aGg>aTg		solute carrier family 27 (fatty acid transporter), member 5							81.0	74.0	77.0					19																	59009889		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59009889C>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.2066G>T	19.37:g.59009889C>A	ENSP00000263093:p.Arg689Met					SLC27A5_ENST00000594786.1_Missense_Mutation_p.R94M|SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R605M	p.R689M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	10	2175	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	689					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.2066G>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820416	0.71028	.	.	ENSG00000083807	ENST00000263093	T	0.58797	0.31	4.85	-2.28	0.06826	.	0.580439	0.18445	N	0.141029	T	0.70448	0.3225	M	0.91561	3.22	0.25563	N	0.986976	D	0.67145	0.996	P	0.54965	0.765	T	0.66512	-0.5905	10	0.87932	D	0	-5.577	9.7483	0.40459	0.0:0.3053:0.0:0.6947	.	689	Q9Y2P5	S27A5_HUMAN	M	689	ENSP00000263093:R689M	ENSP00000263093:R689M	R	-	2	0	SLC27A5	63701701	0.091000	0.21658	0.951000	0.38953	0.920000	0.55202	-0.175000	0.09825	-0.295000	0.08960	0.655000	0.94253	AGG		0.607	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		4	10	1	0	1.23904e-05	1	1.39987e-05	4	10				
SLC9A8	23315	broad.mit.edu	37	20	48497535	48497535	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48497535A>T	ENST00000361573.2	+	13	1275	c.1233A>T	c.(1231-1233)aaA>aaT	p.K411N	SLC9A8_ENST00000539601.1_Missense_Mutation_p.K192N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.K111N|SLC9A8_ENST00000417961.1_Missense_Mutation_p.K427N			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	411					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GGGATCATAAAATCACACCGA	0.428																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1279-1281)aaA>aaT		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							179.0	159.0	166.0					20																	48497535		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48497535A>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1233A>T	20.37:g.48497535A>T	ENSP00000354966:p.Lys411Asn					SLC9A8_ENST00000361573.2_Missense_Mutation_p.K411N|SLC9A8_ENST00000539601.1_Missense_Mutation_p.K192N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.K111N	p.K427N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		13	1491	+			411					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1281A>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157904	0.78114	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.62	3.34	0.38264	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	M	0.92122	3.275	0.80722	D	1	D;D;D	0.71674	0.992;0.996;0.998	D;D;D	0.74348	0.969;0.969;0.983	T	0.46247	-0.9205	10	0.66056	D	0.02	.	8.428	0.32739	0.7872:0.0:0.2128:0.0	.	111;192;411	B4DIV9;B4DIX7;Q9Y2E8	.;.;SL9A8_HUMAN	N	427;411;111;192	ENSP00000416418:K427N;ENSP00000354966:K411N;ENSP00000441615:K111N;ENSP00000441716:K192N	ENSP00000354966:K411N	K	+	3	2	SLC9A8	47930942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.538000	0.36094	0.398000	0.25338	0.459000	0.35465	AAA		0.428	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	130	0	0	0	1	0	5	130				
TEKT5	146279	broad.mit.edu	37	16	10775890	10775890	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10775890A>T	ENST00000283025.2	-	4	894	c.823T>A	c.(823-825)Tgc>Agc	p.C275S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	275						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCTGATGCAGTCTGACGTA	0.542																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(823-825)Tgc>Agc		tektin 5							293.0	218.0	244.0					16																	10775890		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10775890A>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.823T>A	16.37:g.10775890A>T	ENSP00000283025:p.Cys275Ser						p.C275S	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			4	894	-			275					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.823T>A	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.264794	0.23136	.	.	ENSG00000153060	ENST00000283025	T	0.02197	4.4	5.06	2.47	0.30058	.	0.551733	0.17321	N	0.178487	T	0.00875	0.0029	N	0.01576	-0.805	0.25005	N	0.991449	B	0.02656	0.0	B	0.01281	0.0	T	0.49615	-0.8921	10	0.25751	T	0.34	-13.9918	4.5074	0.11894	0.438:0.2777:0.0:0.2843	.	275	Q96M29	TEKT5_HUMAN	S	275	ENSP00000283025:C275S	ENSP00000283025:C275S	C	-	1	0	TEKT5	10683391	0.988000	0.35896	0.976000	0.42696	0.304000	0.27724	0.759000	0.26461	1.898000	0.54952	0.459000	0.35465	TGC		0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		72	95	0	0	0	1	0	72	95				
FRY	10129	broad.mit.edu	37	13	32808887	32808887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32808887G>T	ENST00000380250.3	+	42	6200	c.5704G>T	c.(5704-5706)Gat>Tat	p.D1902Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1902						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAACATGGAGATGAGATTCA	0.473																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5704-5706)Gat>Tat		furry homolog (Drosophila)							75.0	73.0	74.0					13																	32808887		1989	4173	6162	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32808887G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5704G>T	13.37:g.32808887G>T	ENSP00000369600:p.Asp1902Tyr						p.D1902Y	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	42	6200	+		Lung SC(185;0.0271)	1902					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5704G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769733	0.69992	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23552	1.9	5.92	5.92	0.95590	.	0.104600	0.64402	D	0.000004	T	0.29850	0.0746	L	0.46157	1.445	0.80722	D	1	B	0.18741	0.03	B	0.16722	0.016	T	0.03524	-1.1028	10	0.72032	D	0.01	.	20.3213	0.98679	0.0:0.0:1.0:0.0	.	1902	Q5TBA9	FRY_HUMAN	Y	1902;739	ENSP00000369600:D1902Y	ENSP00000369600:D1902Y	D	+	1	0	FRY	31706887	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.810000	0.96702	0.650000	0.86243	GAT		0.473	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		13	15	1	0	1.5842e-08	1	1.90059e-08	13	15				
HIST1H2AB	8335	broad.mit.edu	37	6	26033407	26033407	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26033407C>G	ENST00000259791.2	-	1	389	c.390G>C	c.(388-390)aaG>aaC	p.K130N	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	130						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TAACTCTTCACTTTCCCTTGG	0.488																																						ENST00000259791.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(388-390)aaG>aaC		histone cluster 1, H2ab							52.0	53.0	53.0					6																	26033407		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033407C>G	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.390G>C	6.37:g.26033407C>G	ENSP00000259791:p.Lys130Asn						p.K130N	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	389	-			130					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.390G>C	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	17.37	3.373258	0.61624	.	.	ENSG00000137259	ENST00000259791	D	0.91011	-2.77	5.35	-3.3	0.05003	.	.	.	.	.	T	0.73560	0.3602	.	.	.	0.23325	N	0.99791	B	0.28419	0.211	B	0.14023	0.01	T	0.64322	-0.6435	8	0.87932	D	0	.	11.5679	0.50815	0.0:0.4971:0.0:0.5029	.	130	P04908	H2A1B_HUMAN	N	130	ENSP00000259791:K130N	ENSP00000259791:K130N	K	-	3	2	HIST1H2AB	26141386	0.858000	0.29795	0.022000	0.16811	0.550000	0.35303	0.073000	0.14640	-0.635000	0.05531	0.561000	0.74099	AAG		0.488	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		14	33	0	0	0	1	0	14	33				
ITGA7	3679	broad.mit.edu	37	12	56091753	56091753	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56091753C>A	ENST00000555728.1	-	9	1410	c.1382G>T	c.(1381-1383)aGc>aTc	p.S461I	ITGA7_ENST00000257879.6_Missense_Mutation_p.S417I|ITGA7_ENST00000394229.2_Missense_Mutation_p.S417I|ITGA7_ENST00000347027.6_Missense_Mutation_p.S417I|ITGA7_ENST00000257880.7_Missense_Mutation_p.S461I|ITGA7_ENST00000452168.2_Missense_Mutation_p.S324I|ITGA7_ENST00000553804.1_Missense_Mutation_p.S421I|ITGA7_ENST00000394230.2_Missense_Mutation_p.S421I			Q13683	ITA7_HUMAN	integrin, alpha 7	461					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCAGGCTGCTCCCATGGTA	0.597																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1381-1383)aGc>aTc		integrin, alpha 7							164.0	163.0	163.0					12																	56091753		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091753C>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1382G>T	12.37:g.56091753C>A	ENSP00000452387:p.Ser461Ile					ITGA7_ENST00000553804.1_Missense_Mutation_p.S421I|ITGA7_ENST00000452168.2_Missense_Mutation_p.S324I|ITGA7_ENST00000347027.6_Missense_Mutation_p.S417I|ITGA7_ENST00000394230.2_Missense_Mutation_p.S421I|ITGA7_ENST00000555728.1_Missense_Mutation_p.S461I|ITGA7_ENST00000257879.6_Missense_Mutation_p.S417I|ITGA7_ENST00000394229.2_Missense_Mutation_p.S417I	p.S461I			Q13683	ITA7_HUMAN			9	1601	-			461					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1382G>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.960026	0.74016	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	4.35	4.35	0.52113	.	0.152028	0.47093	D	0.000250	D	0.88596	0.6479	M	0.92412	3.305	0.52501	D	0.999956	D;D;D;D	0.76494	0.999;0.991;0.995;0.997	D;D;D;D	0.75020	0.979;0.954;0.985;0.959	D	0.91525	0.5237	10	0.87932	D	0	.	14.7646	0.69629	0.0:1.0:0.0:0.0	.	324;461;421;480	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	I	421;417;417;324;461;421;417;461;461	ENSP00000452120:S421I;ENSP00000257879:S417I;ENSP00000343009:S417I;ENSP00000393844:S324I;ENSP00000257880:S461I;ENSP00000377777:S421I;ENSP00000377776:S417I;ENSP00000452387:S461I	ENSP00000257879:S417I	S	-	2	0	ITGA7	54378020	0.163000	0.22920	1.000000	0.80357	0.930000	0.56654	1.528000	0.35985	2.166000	0.68216	0.561000	0.74099	AGC		0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		68	113	1	0	7.59065e-32	1	1.01804e-31	68	113				
DDX56	54606	broad.mit.edu	37	7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	rs140918826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(565-567)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box helicase 56		C	GLN/ARG	1,4405		0,1,2202	68.0	66.0	67.0		566	6.1	1.0	7	dbSNP_134	67	0,8600		0,0,4300	no	missense	DDX56	NM_019082.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	189/548	44612025	1,13005	2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612025C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.566G>A	7.37:g.44612025C>T	ENSP00000258772:p.Arg189Gln					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q	p.R189Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			5	672	-			189			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.566G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212715	0.79352	2.27E-4	0.0	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.15256	2.44;2.44	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.054851	0.64402	D	0.000001	T	0.10809	0.0264	N	0.12831	0.26	0.39894	D	0.973814	B;D	0.54047	0.36;0.964	B;B	0.42462	0.067;0.388	T	0.07102	-1.0790	10	0.40728	T	0.16	-23.4188	11.4039	0.49885	0.0:0.9189:0.0:0.0811	.	189;189	C9JV95;Q9NY93	.;DDX56_HUMAN	Q	189	ENSP00000258772:R189Q;ENSP00000393488:R189Q	ENSP00000258772:R189Q	R	-	2	0	DDX56	44578550	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.003000	0.49505	2.884000	0.98904	0.655000	0.94253	CGG		0.493	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		18	40	0	0	0	1	0	18	40				
ADAM9	8754	broad.mit.edu	37	8	38884200	38884200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38884200G>T	ENST00000487273.2	+	11	1079	c.1001G>T	c.(1000-1002)gGa>gTa	p.G334V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	334	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GAACAGTTTGGACAAATCACT	0.373																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1000-1002)gGa>gTa		ADAM metallopeptidase domain 9							190.0	173.0	178.0					8																	38884200		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38884200G>T	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1001G>T	8.37:g.38884200G>T	ENSP00000419446:p.Gly334Val						p.G334V	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		11	1079	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	334			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1001G>T	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747786	0.30955	.	.	ENSG00000168615	ENST00000487273	T	0.63255	-0.03	5.44	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.483231	0.24198	N	0.040657	T	0.55449	0.1921	L	0.41492	1.28	0.54753	D	0.999986	P	0.39759	0.687	B	0.44044	0.439	T	0.50056	-0.8872	10	0.26408	T	0.33	.	10.7625	0.46272	0.0:0.1415:0.712:0.1466	.	334	Q13443	ADAM9_HUMAN	V	334	ENSP00000419446:G334V	ENSP00000369249:G334V	G	+	2	0	ADAM9	39003357	0.998000	0.40836	0.997000	0.53966	0.606000	0.37113	2.989000	0.49393	2.542000	0.85734	0.460000	0.39030	GGA		0.373	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			10	142	1	0	3.86212e-05	1	4.30401e-05	10	142				
UBE2V1	7335	broad.mit.edu	37	20	48699376	48699376	+	Missense_Mutation	SNP	G	G	A	rs529730514		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48699376G>A	ENST00000371674.3	-	4	417	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	UBE2V1_ENST00000340309.3_Missense_Mutation_p.R148W|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R348W|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R83W|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R148W|TMEM189_ENST00000557021.1_Missense_Mutation_p.R348W|UBE2V1_ENST00000415862.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000420027.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000396059.3_5'UTR	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	125					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			ATTAGGCGCCGAAGCTCTTGC	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17523	0.0		0.0	False		,,,				2504	0.0					ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(1042-1044)Cgg>Tgg		transmembrane protein 189							81.0	79.0	79.0					20																	48699376		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48699376G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.373C>T	20.37:g.48699376G>A	ENSP00000360739:p.Arg125Trp					UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000420027.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R125W|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R348W|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R83W|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R148W|UBE2V1_ENST00000415862.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R148W	p.R348W	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		8	1202	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.1042C>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297115	0.60086	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.25	4.29	0.51040	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44902	U	0.000401	T	0.42200	0.1192	M	0.87038	2.855	0.46701	D	0.999161	D;P;P;D	0.89917	1.0;0.95;0.682;0.994	D;P;P;P	0.69479	0.964;0.56;0.555;0.896	T	0.53308	-0.8457	10	0.87932	D	0	-14.4321	15.3972	0.74805	0.0:0.0:0.8601:0.1399	.	348;148;81;125	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	W	348;83;125;148;81;148;81;81;348	ENSP00000344166:R348W;ENSP00000360720:R83W;ENSP00000360739:R125W;ENSP00000340305:R148W;ENSP00000407770:R81W;ENSP00000360742:R148W;ENSP00000395264:R81W;ENSP00000450635:R348W	ENSP00000344166:R348W	R	-	1	2	TMEM189-UBE2V1;UBE2V1;TMEM189	48132783	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	2.802000	0.47916	1.189000	0.43028	0.650000	0.86243	CGG		0.443	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		38	50	0	0	0	1	0	38	50				
F8	2157	broad.mit.edu	37	X	154091391	154091391	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154091391G>T	ENST00000360256.4	-	23	6741	c.6541C>A	c.(6541-6543)Ctt>Att	p.L2181I	F8_ENST00000330287.6_Missense_Mutation_p.L46I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2181	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCATGCGAAGAGTGCTGCGA	0.418																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(6541-6543)Ctt>Att		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						169.0	141.0	151.0					X																	154091391		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154091391G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6541C>A	X.37:g.154091391G>T	ENSP00000353393:p.Leu2181Ile					F8_ENST00000330287.6_Missense_Mutation_p.L46I	p.L2181I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			23	6741	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2181			F5/8 type C 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6541C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.164444	0.78339	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.99201	-5.55;-5.55	5.7	5.7	0.88788	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.88570	2.965	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99470	1.0945	10	0.87932	D	0	-18.5698	9.68	0.40065	0.0959:0.0:0.904:0.0	.	2181;46	P00451;Q14286	FA8_HUMAN;.	I	46;2181	ENSP00000327895:L46I;ENSP00000353393:L2181I	ENSP00000327895:L46I	L	-	1	0	F8	153744585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.619000	0.61218	2.395000	0.81488	0.594000	0.82650	CTT		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			32	53	1	0	6.00712e-18	1	7.8162e-18	32	53				
VAT1L	57687	broad.mit.edu	37	16	77850856	77850856	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:77850856A>T	ENST00000302536.2	+	2	425	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	91							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CGACAAGGGAATATTGACAAC	0.443																																						ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(271-273)aAt>aTt		vesicle amine transport 1-like							134.0	122.0	126.0					16																	77850856		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77850856A>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.272A>T	16.37:g.77850856A>T	ENSP00000303129:p.Asn91Ile						p.N91I	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			2	425	+			91					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.272A>T	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.499351	0.26861	.	.	ENSG00000171724	ENST00000302536	T	0.04917	3.53	5.63	5.63	0.86233	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.089102	0.85682	D	0.000000	T	0.03783	0.0107	N	0.02876	-0.465	0.58432	D	0.999992	B	0.27013	0.166	B	0.28916	0.096	T	0.56384	-0.7988	10	0.28530	T	0.3	-8.5582	15.5101	0.75772	1.0:0.0:0.0:0.0	.	91	Q9HCJ6	VAT1L_HUMAN	I	91	ENSP00000303129:N91I	ENSP00000303129:N91I	N	+	2	0	VAT1L	76408357	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.459000	0.66685	2.149000	0.67028	0.260000	0.18958	AAT		0.443	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		45	48	0	0	0	1	0	45	48				
PCDHB2	56133	broad.mit.edu	37	5	140476722	140476722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476722G>A	ENST00000194155.4	+	1	2496	c.2348G>A	c.(2347-2349)aGg>aAg	p.R783K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	783					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCAGAGAGGGTTAGCGAG	0.468																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2347-2349)aGg>aAg									105.0	112.0	110.0					5																	140476722		2202	4298	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476722G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2348G>A	5.37:g.140476722G>A	ENSP00000194155:p.Arg783Lys						p.R783K	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2496	+			783					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2348G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	1.589	-0.529608	0.04112	.	.	ENSG00000112852	ENST00000194155	T	0.13307	2.6	4.34	0.209	0.15226	.	.	.	.	.	T	0.09247	0.0228	L	0.48260	1.515	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.42275	-0.9461	9	0.15952	T	0.53	.	1.4148	0.02299	0.1683:0.2434:0.3568:0.2316	.	783	Q9Y5E7	PCDB2_HUMAN	K	783	ENSP00000194155:R783K	ENSP00000194155:R783K	R	+	2	0	PCDHB2	140456906	0.000000	0.05858	0.004000	0.12327	0.224000	0.24922	-0.458000	0.06737	0.044000	0.15775	-0.181000	0.13052	AGG		0.468	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		9	100	0	0	0	1	0	9	100				
LIG3	3980	broad.mit.edu	37	17	33326454	33326454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33326454G>A	ENST00000378526.4	+	15	2375	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LIG3_ENST00000262327.5_Missense_Mutation_p.V748M	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	748					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ACTAGACATGGTGAAGATCAG	0.572								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(2242-2244)Gtg>Atg	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						62.0	46.0	51.0					17																	33326454		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33326454G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2242G>A	17.37:g.33326454G>A	ENSP00000367787:p.Val748Met					LIG3_ENST00000262327.5_Missense_Mutation_p.V748M	p.V748M	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			15	2375	+		Ovarian(249;0.17)	748					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.2242G>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152684	0.78001	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.63580	-0.05;-0.05	6.17	5.18	0.71444	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.177421	0.50627	D	0.000108	T	0.71550	0.3353	L	0.52126	1.63	0.53688	D	0.999974	D;D	0.58620	0.983;0.983	P;D	0.64321	0.873;0.924	T	0.70930	-0.4738	10	0.39692	T	0.17	-10.5164	13.8342	0.63400	0.0753:0.0:0.9247:0.0	.	748;748	P49916;E5KLB6	DNLI3_HUMAN;.	M	748	ENSP00000367787:V748M;ENSP00000262327:V748M	ENSP00000262327:V748M	V	+	1	0	LIG3	30350567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.194000	0.65125	1.561000	0.49584	0.655000	0.94253	GTG		0.572	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		8	14	0	0	0	1	0	8	14				
EEA1	8411	broad.mit.edu	37	12	93169839	93169839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93169839G>A	ENST00000322349.8	-	29	4448	c.4184C>T	c.(4183-4185)tCc>tTc	p.S1395F		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1395					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGGCTTCTTGGAGGAAGGAGT	0.363																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(4183-4185)tCc>tTc		early endosome antigen 1							94.0	88.0	90.0					12																	93169839		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93169839G>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.4184C>T	12.37:g.93169839G>A	ENSP00000317955:p.Ser1395Phe						p.S1395F	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			29	4448	-			1395					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.4184C>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528546	0.85706	.	.	ENSG00000102189	ENST00000322349	T	0.72725	-0.68	5.51	5.51	0.81932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.51477	D	0.000081	D	0.82870	0.5131	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84044	0.0366	10	0.87932	D	0	.	19.4054	0.94646	0.0:0.0:1.0:0.0	.	1395	Q15075	EEA1_HUMAN	F	1395	ENSP00000317955:S1395F	ENSP00000317955:S1395F	S	-	2	0	EEA1	91693970	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.827000	0.99397	2.577000	0.86979	0.563000	0.77884	TCC		0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		20	27	0	0	0	1	0	20	27				
TRPM6	140803	broad.mit.edu	37	9	77400893	77400893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77400893C>A	ENST00000360774.1	-	21	3053	c.2816G>T	c.(2815-2817)aGa>aTa	p.R939I	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R934I|TRPM6_ENST00000451710.3_Missense_Mutation_p.R939I|TRPM6_ENST00000361255.3_Missense_Mutation_p.R934I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R939I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	939					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGATCAGTCTTCCCGCTGT	0.468																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2815-2817)aGa>aTa		transient receptor potential cation channel, subfamily M, member 6							223.0	200.0	208.0					9																	77400893		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77400893C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2816G>T	9.37:g.77400893C>A	ENSP00000354006:p.Arg939Ile					TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R934I|TRPM6_ENST00000376864.4_Missense_Mutation_p.R939I|TRPM6_ENST00000449912.2_Missense_Mutation_p.R934I|TRPM6_ENST00000360774.1_Missense_Mutation_p.R939I	p.R939I			Q9BX84	TRPM6_HUMAN			21	3053	-			939					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2816G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548960	0.45383	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.32	5.32	0.75619	Ion transport (1);	0.094038	0.85682	D	0.000000	T	0.81545	0.4845	M	0.83483	2.645	0.47905	D	0.999547	P;P;P	0.48162	0.799;0.74;0.906	P;P;P	0.46339	0.477;0.513;0.477	D	0.85099	0.0956	10	0.87932	D	0	.	19.1888	0.93654	0.0:1.0:0.0:0.0	.	602;939;934	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	I	939;939;934;934;939;602;602	ENSP00000354006:R939I;ENSP00000407341:R939I;ENSP00000396672:R934I;ENSP00000354962:R934I;ENSP00000366060:R939I	ENSP00000309693:R602I	R	-	2	0	TRPM6	76590713	0.969000	0.33509	0.937000	0.37676	0.160000	0.22226	3.736000	0.55052	2.771000	0.95319	0.549000	0.68633	AGA		0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		23	142	1	0	1.50039e-11	1	1.87199e-11	23	142				
CORIN	10699	broad.mit.edu	37	4	47625742	47625742	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47625742C>A	ENST00000273857.4	-	19	2385	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	CORIN_ENST00000508498.1_Missense_Mutation_p.A657S|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.A759S|CORIN_ENST00000502252.1_Missense_Mutation_p.A729S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	796	SRCR.				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						TTCATTCGGGCAGCAGGGCGG	0.532																																						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.(2386-2388)Gcc>Tcc		corin, serine peptidase							87.0	87.0	87.0					4																	47625742		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.chr4:47625742C>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.2386G>T	4.37:g.47625742C>A	ENSP00000273857:p.Ala796Ser					CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Missense_Mutation_p.A657S|CORIN_ENST00000502252.1_Missense_Mutation_p.A729S|CORIN_ENST00000505909.1_Missense_Mutation_p.A759S	p.A796S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			19	2385	-			796			SRCR.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2386G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240802	0.58995	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.90069	-2.61;-2.6;-2.6;-2.47	5.25	5.25	0.73442	Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.282570	0.33631	N	0.004712	D	0.91908	0.7438	M	0.69823	2.125	0.80722	D	1	D;P	0.57899	0.981;0.944	P;P	0.55055	0.767;0.48	D	0.89136	0.3513	10	0.16420	T	0.52	.	19.2089	0.93746	0.0:1.0:0.0:0.0	.	729;796	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	S	796;657;729;759	ENSP00000273857:A796S;ENSP00000425597:A657S;ENSP00000424212:A729S;ENSP00000425401:A759S	ENSP00000273857:A796S	A	-	1	0	CORIN	47320499	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.996000	0.40776	2.611000	0.88343	0.585000	0.79938	GCC		0.532	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	73	1	0	0.150653	1	0.152692	4	73				
POSTN	10631	broad.mit.edu	37	13	38160320	38160320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38160320C>T	ENST00000379747.4	-	7	968	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	POSTN_ENST00000379749.4_Missense_Mutation_p.R284Q|POSTN_ENST00000541481.1_Missense_Mutation_p.R284Q|POSTN_ENST00000541179.1_Missense_Mutation_p.R284Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R284Q|POSTN_ENST00000379743.4_Missense_Mutation_p.R284Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	284	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAGGACACCTCGTGGAAGTTT	0.483																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(850-852)cGa>cAa		periostin, osteoblast specific factor							106.0	100.0	102.0					13																	38160320		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160320C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.851G>A	13.37:g.38160320C>T	ENSP00000369071:p.Arg284Gln					POSTN_ENST00000541179.1_Missense_Mutation_p.R284Q|POSTN_ENST00000541481.1_Missense_Mutation_p.R284Q|POSTN_ENST00000379743.4_Missense_Mutation_p.R284Q|POSTN_ENST00000379749.4_Missense_Mutation_p.R284Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R284Q	p.R284Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	968	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	284			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.851G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137571	0.56936	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.81	5.81	0.92471	FAS1 domain (5);	0.286873	0.34828	N	0.003655	D	0.86711	0.5998	N	0.17800	0.525	0.29542	N	0.852011	D;D;P;D;D;B;P	0.64830	0.99;0.978;0.642;0.994;0.993;0.376;0.642	P;P;B;P;P;B;B	0.50405	0.593;0.457;0.107;0.64;0.457;0.065;0.107	T	0.80344	-0.1422	10	0.15499	T	0.54	-12.3328	15.5471	0.76112	0.0:0.8627:0.1373:0.0	.	284;284;284;284;284;284;284	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	Q	284;284;284;284;284;284;201	ENSP00000437959:R284Q;ENSP00000369073:R284Q;ENSP00000369071:R284Q;ENSP00000369067:R284Q;ENSP00000369066:R284Q;ENSP00000437953:R284Q	ENSP00000369066:R284Q	R	-	2	0	POSTN	37058320	0.743000	0.28239	1.000000	0.80357	0.990000	0.78478	2.303000	0.43646	2.736000	0.93811	0.655000	0.94253	CGA		0.483	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		29	33	0	0	0	1	0	29	33				
ZSWIM2	151112	broad.mit.edu	37	2	187698684	187698684	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187698684T>C	ENST00000295131.2	-	6	856	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	273					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCACGAAATGTAAACGTGTGG	0.363																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(817-819)Aca>Gca		zinc finger, SWIM-type containing 2							129.0	112.0	117.0					2																	187698684		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187698684T>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.817A>G	2.37:g.187698684T>C	ENSP00000295131:p.Thr273Ala						p.T273A	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		6	856	-			273					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.817A>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	2.079	-0.411272	0.04799	.	.	ENSG00000163012	ENST00000295131	D	0.87491	-2.26	5.78	-2.08	0.07254	.	1.724210	0.02868	N	0.131199	T	0.76248	0.3961	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.62006	-0.6945	10	0.10636	T	0.68	9.8797	12.1771	0.54192	0.0:0.6186:0.0:0.3814	.	273	Q8NEG5	ZSWM2_HUMAN	A	273	ENSP00000295131:T273A	ENSP00000295131:T273A	T	-	1	0	ZSWIM2	187406929	0.004000	0.15560	0.009000	0.14445	0.034000	0.12701	-0.223000	0.09177	-0.355000	0.08199	-0.456000	0.05471	ACA		0.363	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		22	34	0	0	0	1	0	22	34				
FAM160A2	84067	broad.mit.edu	37	11	6239802	6239802	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6239802C>A	ENST00000449352.2	-	8	1699				FAM160A2_ENST00000265978.4_Missense_Mutation_p.R488M|FAM160A2_ENST00000524416.1_Intron			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGTCCTCCCTTCTCCCTGT	0.612																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1462-1464)aGg>aTg		family with sequence similarity 160, member A2							110.0	95.0	100.0					11																	6239802		2201	4296	6497	SO:0001627	intron_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6239802C>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1435+27G>T	11.37:g.6239802C>A						FAM160A2_ENST00000524416.1_Intron|FAM160A2_ENST00000449352.2_Intron	p.R488M	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			8	1821	-			479					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.1463G>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991312	0.18966	.	.	ENSG00000051009	ENST00000265978	T	0.07688	3.17	5.39	3.4	0.38934	.	0.418922	0.23433	N	0.048233	T	0.09379	0.0231	.	.	.	0.80722	D	1	P	0.47191	0.891	P	0.44990	0.466	T	0.09707	-1.0662	9	0.44086	T	0.13	-5.7054	6.6479	0.22945	0.0:0.7882:0.0:0.2118	.	488	Q8N612-2	.	M	488	ENSP00000265978:R488M	ENSP00000265978:R488M	R	-	2	0	FAM160A2	6196378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.964000	0.40462	1.509000	0.48786	0.655000	0.94253	AGG		0.612	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		6	108	1	0	0.248553	1	0.25002	6	108				
CCDC33	80125	broad.mit.edu	37	15	74565141	74565141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565141C>T	ENST00000398814.3	+	7	1099	c.668C>T	c.(667-669)tCt>tTt	p.S223F	CCDC33_ENST00000321288.5_Missense_Mutation_p.S426F	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	426										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACCTGGCCTCTGTGGGGCTG	0.652																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1276-1278)tCt>tTt		coiled-coil domain containing 33							70.0	75.0	73.0					15																	74565141		2023	4163	6186	SO:0001583	missense	80125						protein binding	g.chr15:74565141C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.668C>T	15.37:g.74565141C>T	ENSP00000381795:p.Ser223Phe					CCDC33_ENST00000398814.3_Missense_Mutation_p.S223F	p.S426F			Q8N5R6	CCD33_HUMAN			9	1277	+			426					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1277C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	c	12.48	1.951449	0.34471	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.25912	1.77;2.08	4.37	2.3	0.28687	.	0.388616	0.22506	N	0.059178	T	0.18635	0.0447	L	0.43701	1.375	0.09310	N	1	B;B	0.19073	0.012;0.033	B;B	0.19946	0.007;0.027	T	0.14035	-1.0487	10	0.44086	T	0.13	.	5.0118	0.14317	0.2054:0.6845:0.0:0.1101	.	426;223	C9JFX2;Q8N5R6-6	.;.	F	426;223	ENSP00000325012:S426F;ENSP00000381795:S223F	ENSP00000325012:S426F	S	+	2	0	CCDC33	72352194	0.000000	0.05858	0.008000	0.14137	0.619000	0.37552	0.023000	0.13533	0.976000	0.38417	0.550000	0.68814	TCT		0.652	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		14	24	0	0	0	1	0	14	24				
DNAH7	56171	broad.mit.edu	37	2	196728882	196728882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196728882G>A	ENST00000312428.6	-	41	7597	c.7497C>T	c.(7495-7497)gaC>gaT	p.D2499D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2499	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTGAAACCAGTCAATGGTAC	0.398																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(7495-7497)gaC>gaT		dynein, axonemal, heavy chain 7							70.0	65.0	67.0					2																	196728882		1893	4118	6011	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196728882G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7497C>T	2.37:g.196728882G>A							p.D2499D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	7597	-			2499			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.7497C>T	CCDS42794.1																																																																																				0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		22	23	0	0	0	1	0	22	23				
MRVI1	10335	broad.mit.edu	37	11	10673640	10673640	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10673640T>C	ENST00000436272.1	-	1	208	c.130A>G	c.(130-132)Atg>Gtg	p.M44V	MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.M53V|MRVI1_ENST00000531107.1_Missense_Mutation_p.M44V|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.M44V|MRVI1_ENST00000541483.1_Missense_Mutation_p.M53V			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	44					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ATGTGGGGCATGGCAGCCTCC	0.687																																						ENST00000423302.2																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(157-159)Atg>Gtg		murine retrovirus integration site 1 homolog							15.0	19.0	17.0					11																	10673640		2002	4164	6166	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10673640T>C	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.130A>G	11.37:g.10673640T>C	ENSP00000412229:p.Met44Val					MRVI1_ENST00000531107.1_Missense_Mutation_p.M44V|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.M44V|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.M44V|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.M53V|MRVI1_ENST00000532037.1_5'UTR	p.M53V	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	2	306	-			44					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.157A>G		.	.	.	.	.	.	.	.	.	.	T	19.70	3.876187	0.72180	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000529547	T;T;T;T;T;T	0.57907	2.6;2.56;2.41;1.89;2.6;0.37	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.58963	0.2159	L	0.32530	0.975	0.80722	D	1	P;P;P;P	0.43578	0.811;0.713;0.713;0.811	P;P;P;P	0.60789	0.879;0.761;0.761;0.879	T	0.59375	-0.7466	10	0.49607	T	0.09	-16.8624	11.4764	0.50300	0.0:0.0:0.0:1.0	.	53;44;44;44	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	44;44;44;53;53;44;1	ENSP00000414598:M44V;ENSP00000412229:M44V;ENSP00000412130:M53V;ENSP00000437784:M53V;ENSP00000432436:M44V;ENSP00000432325:M1V	ENSP00000307885:M44V	M	-	1	0	MRVI1	10630216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.869000	0.56062	2.205000	0.71048	0.533000	0.62120	ATG		0.687	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		8	10	0	0	0	1	0	8	10				
UVRAG	7405	broad.mit.edu	37	11	75852240	75852240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75852240C>T	ENST00000356136.3	+	15	2124	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	UVRAG_ENST00000528420.1_Missense_Mutation_p.T527I|UVRAG_ENST00000531818.1_Missense_Mutation_p.T256I|UVRAG_ENST00000538870.1_Missense_Mutation_p.T184I|UVRAG_ENST00000533454.1_Missense_Mutation_p.T256I|UVRAG_ENST00000532130.1_Missense_Mutation_p.T256I|UVRAG_ENST00000539288.1_Missense_Mutation_p.T256I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	628					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTCTGCTGTACTGTGGAGCAA	0.567																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1882-1884)aCt>aTt		UV radiation resistance associated							57.0	59.0	58.0					11																	75852240		2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852240C>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1883C>T	11.37:g.75852240C>T	ENSP00000348455:p.Thr628Ile					UVRAG_ENST00000533454.1_Missense_Mutation_p.T256I|UVRAG_ENST00000528420.1_Missense_Mutation_p.T527I|UVRAG_ENST00000532130.1_Missense_Mutation_p.T256I|UVRAG_ENST00000539288.1_Missense_Mutation_p.T256I|UVRAG_ENST00000538870.1_Missense_Mutation_p.T184I|UVRAG_ENST00000531818.1_Missense_Mutation_p.T256I	p.T628I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			15	2124	+			628					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1883C>T	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974482	0.53720	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.48201	0.82	5.75	5.75	0.90469	.	0.474213	0.24970	N	0.034154	T	0.41488	0.1161	L	0.27053	0.805	0.19945	N	0.999945	P;B	0.42203	0.773;0.437	B;B	0.40009	0.316;0.08	T	0.45352	-0.9267	10	0.87932	D	0	0.3007	18.9404	0.92602	0.0:1.0:0.0:0.0	.	184;628	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	I	628;527;256;256;256;256;184	ENSP00000348455:T628I	ENSP00000348455:T628I	T	+	2	0	UVRAG	75529888	0.714000	0.27936	0.008000	0.14137	0.833000	0.47200	7.072000	0.76777	2.725000	0.93324	0.655000	0.94253	ACT		0.567	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		24	25	0	0	0	1	0	24	25				
ZEB2	9839	broad.mit.edu	37	2	145156357	145156357	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145156357A>G	ENST00000558170.2	-	8	3581	c.2397T>C	c.(2395-2397)agT>agC	p.S799S	ZEB2_ENST00000409487.3_Silent_p.S799S|ZEB2_ENST00000303660.4_Silent_p.S799S|ZEB2_ENST00000539609.3_Silent_p.S775S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	799					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGTATGAACTACTGTGGG	0.393																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2395-2397)agT>agC		zinc finger E-box binding homeobox 2							130.0	134.0	133.0					2																	145156357		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156357A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2397T>C	2.37:g.145156357A>G						ZEB2_ENST00000303660.4_Silent_p.S799S|ZEB2_ENST00000539609.3_Silent_p.S775S|ZEB2_ENST00000409487.3_Silent_p.S799S	p.S799S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3581	-			799					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.2397T>C	CCDS2186.1																																																																																				0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		19	133	0	0	0	1	0	19	133				
FBXO44	93611	broad.mit.edu	37	1	11715984	11715984	+	Missense_Mutation	SNP	G	G	A	rs201772395		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11715984G>A	ENST00000251547.5	+	2	174	c.92G>A	c.(91-93)cGc>cAc	p.R31H	FBXO44_ENST00000376770.1_Missense_Mutation_p.R31H|FBXO44_ENST00000376760.1_Missense_Mutation_p.R31H|FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000376762.4_Missense_Mutation_p.R31H|FBXO44_ENST00000251546.4_Missense_Mutation_p.R31H|FBXO2_ENST00000475961.1_5'Flank|FBXO44_ENST00000376768.1_Missense_Mutation_p.R31H	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	31	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAACTGCCGCCTGGTCTGC	0.642																																						ENST00000376770.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(91-93)cGc>cAc		F-box protein 44		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	51.0	57.0	55.0		92,92,92,92	5.4	1.0	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FBXO44	NM_001014765.1,NM_033182.5,NM_183412.2,NM_183413.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	31/256,31/256,31/225,31/225	11715984	1,13005	2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11715984G>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.92G>A	1.37:g.11715984G>A	ENSP00000251547:p.Arg31His					FBXO44_ENST00000376762.4_Missense_Mutation_p.R31H|FBXO44_ENST00000376768.1_Missense_Mutation_p.R31H|FBXO44_ENST00000251546.4_Missense_Mutation_p.R31H|FBXO44_ENST00000251547.5_Missense_Mutation_p.R31H|FBXO44_ENST00000376760.1_Missense_Mutation_p.R31H	p.R31H	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	590	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	31			F-box.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.92G>A	CCDS132.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161942	0.94727	0.0	1.16E-4	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376770;ENST00000376768;ENST00000251547;ENST00000376762;ENST00000376760	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.45	5.45	0.79879	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.74558	0.3732	M	0.93375	3.41	0.46260	D	0.998959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.81837	-0.0749	10	0.87932	D	0	.	18.2499	0.89998	0.0:0.0:1.0:0.0	.	31;31;31	B7Z1P2;Q9H4M3;Q9H4M3-2	.;FBX44_HUMAN;.	H	31	ENSP00000251546:R31H;ENSP00000389820:R31H;ENSP00000365961:R31H;ENSP00000365959:R31H;ENSP00000251547:R31H;ENSP00000365953:R31H;ENSP00000365951:R31H	ENSP00000251546:R31H	R	+	2	0	FBXO44	11638571	1.000000	0.71417	0.990000	0.47175	0.824000	0.46624	5.855000	0.69510	2.555000	0.86185	0.407000	0.27541	CGC		0.642	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		8	42	0	0	0	1	0	8	42				
IFI44	10561	broad.mit.edu	37	1	79121166	79121166	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79121166C>A	ENST00000370747.4	+	5	895	c.810C>A	c.(808-810)atC>atA	p.I270I	IFI44_ENST00000545124.1_De_novo_Start_InFrame|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	270					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTCTATATCTTGAACGGTA	0.388																																						ENST00000545124.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21								interferon-induced protein 44							91.0	92.0	92.0					1																	79121166		2203	4300	6503	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79121166C>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.810C>A	1.37:g.79121166C>A						IFI44_ENST00000370747.4_Silent_p.I270I|IFI44_ENST00000495254.1_3'UTR				Q8TCB0	IFI44_HUMAN			0	427	+								B7ZAG3|D3DQ80|Q14496	Translation_Start_Site	SNP	ENST00000370747.4	37		CCDS688.1																																																																																				0.388	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		9	90	1	0	3.86212e-05	1	4.30401e-05	9	90				
IL34	146433	broad.mit.edu	37	16	70690536	70690536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690536G>A	ENST00000288098.2	+	3	577	c.194G>A	c.(193-195)aGt>aAt	p.S65N	IL34_ENST00000569641.1_3'UTR|IL34_ENST00000566361.1_Missense_Mutation_p.S40N|IL34_ENST00000429149.2_Missense_Mutation_p.S65N	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	65					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TACAAGATCAGTGTGCCTTAC	0.562																																						ENST00000429149.2																			0				breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(193-195)aGt>aAt		interleukin 34							107.0	98.0	101.0					16																	70690536		2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70690536G>A	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.194G>A	16.37:g.70690536G>A	ENSP00000288098:p.Ser65Asn					IL34_ENST00000566361.1_Missense_Mutation_p.S40N|IL34_ENST00000569641.1_3'UTR|IL34_ENST00000288098.2_Missense_Mutation_p.S65N	p.S65N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			4	749	+			65					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.194G>A	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543065	0.27563	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.46451	0.87;0.87	5.46	2.35	0.29111	.	0.839328	0.11046	N	0.605501	T	0.33000	0.0848	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.32025	-0.9922	10	0.31617	T	0.26	-2.5363	2.5538	0.04755	0.1641:0.1535:0.5339:0.1485	.	65;65	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	N	65	ENSP00000397863:S65N;ENSP00000288098:S65N	ENSP00000288098:S65N	S	+	2	0	IL34	69248037	0.001000	0.12720	0.500000	0.27589	0.803000	0.45373	0.731000	0.26058	0.249000	0.21456	-0.308000	0.09152	AGT		0.562	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		4	52	0	0	0	1	0	4	52				
MRPL36	64979	broad.mit.edu	37	5	1798862	1798862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1798862G>A	ENST00000508987.1	-	2	324	c.188C>T	c.(187-189)gCg>gTg	p.A63V	NDUFS6_ENST00000469176.1_5'Flank|MRPL36_ENST00000505818.1_Missense_Mutation_p.A63V|MRPL36_ENST00000505059.2_Missense_Mutation_p.A63V|NDUFS6_ENST00000274137.5_5'Flank|MRPL36_ENST00000382647.7_Missense_Mutation_p.A63V			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	63					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GAACCCCAGCGCAGGCAGCAG	0.592																																						ENST00000508987.1																			0				breast(1)|lung(2)	3						c.(187-189)gCg>gTg		mitochondrial ribosomal protein L36							49.0	49.0	49.0					5																	1798862		2203	4300	6503	SO:0001583	missense	64979				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr5:1798862G>A	AB049654	CCDS3865.1	5p15.3	2012-09-13			ENSG00000171421	ENSG00000171421		"""Mitochondrial ribosomal proteins / large subunits"""	14490	protein-coding gene	gene with protein product	"""putative BRCA1-interacting protein"", ""39S ribosomal protein L36, mitochondrial"""	611842				11543634	Standard	NM_032479		Approved	BRIP1, RPMJ, L36mt, PRPL36, MRP-L36	uc003jcx.4	Q9P0J6	OTTHUMG00000090373	ENST00000508987.1:c.188C>T	5.37:g.1798862G>A	ENSP00000423399:p.Ala63Val					MRPL36_ENST00000505818.1_Missense_Mutation_p.A63V|MRPL36_ENST00000382647.7_Missense_Mutation_p.A63V|MRPL36_ENST00000505059.2_Missense_Mutation_p.A63V	p.A63V			Q9P0J6	RM36_HUMAN		GBM - Glioblastoma multiforme(108;0.241)	2	324	-			63					A4UCS0|B2R4Z2|Q3SWV6|Q9UKL7	Missense_Mutation	SNP	ENST00000508987.1	37	c.188C>T	CCDS3865.1	.	.	.	.	.	.	.	.	.	.	G	8.287	0.816838	0.16607	.	.	ENSG00000171421	ENST00000505818;ENST00000382647;ENST00000505059;ENST00000508987	.	.	.	4.18	3.29	0.37713	.	1.022980	0.07830	N	0.961280	T	0.20901	0.0503	L	0.29908	0.895	0.09310	N	1	P	0.37141	0.584	B	0.22386	0.039	T	0.06092	-1.0846	9	0.23302	T	0.38	-12.7494	7.1927	0.25834	0.2069:0.0:0.7931:0.0	.	63	Q9P0J6	RM36_HUMAN	V	63	.	ENSP00000372093:A63V	A	-	2	0	MRPL36	1851862	0.002000	0.14202	0.094000	0.20943	0.018000	0.09664	1.168000	0.31859	1.893000	0.54813	0.555000	0.69702	GCG		0.592	MRPL36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365908.2	NM_032479		13	32	0	0	0	1	0	13	32				
ZBTB3	79842	broad.mit.edu	37	11	62520277	62520277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62520277G>A	ENST00000394807.3	-	2	1135	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	337	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						tggaactggagctgagacagg	0.567																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1009-1011)gCt>gTt		zinc finger and BTB domain containing 3							42.0	41.0	41.0					11																	62520277		2202	4294	6496	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520277G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1010C>T	11.37:g.62520277G>A	ENSP00000378286:p.Ala337Val						p.A337V	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1135	-			337			Pro-rich.			Missense_Mutation	SNP	ENST00000394807.3	37	c.1010C>T	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	0.173	-1.069748	0.01918	.	.	ENSG00000185670	ENST00000394807	T	0.12465	2.68	3.06	0.93	0.19454	.	0.868367	0.09573	N	0.783885	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38714	-0.9648	10	0.31617	T	0.26	.	5.8636	0.18762	0.1235:0.195:0.6815:0.0	.	337	Q9H5J0	ZBTB3_HUMAN	V	337	ENSP00000378286:A337V	ENSP00000378286:A337V	A	-	2	0	ZBTB3	62276853	0.203000	0.23435	0.769000	0.31535	0.034000	0.12701	1.444000	0.35068	0.499000	0.27970	-0.258000	0.10820	GCT		0.567	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		27	26	0	0	0	1	0	27	26				
INHBE	83729	broad.mit.edu	37	12	57849418	57849418	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849418A>G	ENST00000266646.2	+	1	315	c.99A>G	c.(97-99)aaA>aaG	p.K33K	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	33					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGGGCTCCAAACTGGCACCCC	0.612																																					GBM(191;1808 2166 15720 36624 50371)	ENST00000266646.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(97-99)aaA>aaG		inhibin, beta E							63.0	57.0	59.0					12																	57849418		2203	4300	6503	SO:0001819	synonymous_variant	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849418A>G		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.99A>G	12.37:g.57849418A>G						INHBE_ENST00000551553.1_Intron	p.K33K	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN			1	315	+			33						Silent	SNP	ENST00000266646.2	37	c.99A>G	CCDS8939.1																																																																																				0.612	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		4	29	0	0	0	1	0	4	29				
ELN	2006	broad.mit.edu	37	7	73475434	73475434	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73475434C>A	ENST00000252034.7	+	26	2150	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	ELN_ENST00000380553.4_Missense_Mutation_p.P448H|ELN_ENST00000380562.4_Missense_Mutation_p.P590H|ELN_ENST00000358929.4_Missense_Mutation_p.P652H|ELN_ENST00000429192.1_Missense_Mutation_p.P570H|ELN_ENST00000320399.6_Missense_Mutation_p.P617H|ELN_ENST00000445912.1_Missense_Mutation_p.P584H|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380575.4_Missense_Mutation_p.P555H|ELN_ENST00000380576.5_Missense_Mutation_p.P565H|ELN_ENST00000380584.4_Missense_Mutation_p.P536H|ELN_ENST00000320492.7_Missense_Mutation_p.P503H|ELN_ENST00000458204.1_Missense_Mutation_p.P574H|ELN_ENST00000357036.5_Missense_Mutation_p.P589H|ELN_ENST00000414324.1_Missense_Mutation_p.P560H	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TCCCCAGTACCTGGAGCCCTG	0.597			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1750-1752)cCt>cAt		elastin	Rofecoxib(DB00533)						74.0	68.0	70.0					7																	73475434		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73475434C>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1751C>A	7.37:g.73475434C>A	ENSP00000252034:p.Pro584His					ELN_ENST00000380575.4_Missense_Mutation_p.P555H|ELN_ENST00000380562.4_Missense_Mutation_p.P590H|ELN_ENST00000320492.7_Missense_Mutation_p.P503H|ELN_ENST00000380553.4_Missense_Mutation_p.P448H|ELN_ENST00000357036.5_Missense_Mutation_p.P589H|ELN_ENST00000380584.4_Missense_Mutation_p.P536H|ELN_ENST00000320399.6_Missense_Mutation_p.P617H|ELN_ENST00000458204.1_Missense_Mutation_p.P574H|ELN_ENST00000380576.5_Missense_Mutation_p.P565H|ELN_ENST00000445912.1_Missense_Mutation_p.P584H|ELN_ENST00000414324.1_Missense_Mutation_p.P560H|ELN_ENST00000429192.1_Missense_Mutation_p.P570H|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.P652H	p.P584H	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			26	2150	+		Lung NSC(55;0.159)	646			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1751C>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539252	0.45176	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42513	1.12;1.19;1.26;1.22;1.04;1.18;1.09;0.97;1.15;1.11;1.06;1.03;1.04;1.16	4.25	4.25	0.50352	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.34444	D	0.699952	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.70935	0.971;0.971;0.971;0.971;0.971;0.971;0.971;0.971;0.971;0.971;0.971;0.971;0.971	T	0.74054	-0.3788	8	0.87932	D	0	-5.8229	12.3995	0.55404	0.0:1.0:0.0:0.0	.	584;503;560;574;590;555;570;589;565;448;495;536;584	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	H	584;584;652;503;560;590;555;536;574;589;570;523;448;565;617	ENSP00000389857:P584H;ENSP00000252034:P584H;ENSP00000351807:P652H;ENSP00000315607:P503H;ENSP00000392575:P560H;ENSP00000369936:P590H;ENSP00000369949:P555H;ENSP00000369958:P536H;ENSP00000403162:P574H;ENSP00000349540:P589H;ENSP00000391129:P570H;ENSP00000369926:P448H;ENSP00000369950:P565H;ENSP00000313565:P617H	ENSP00000252034:P584H	P	+	2	0	ELN	73113370	0.995000	0.38212	0.995000	0.50966	0.841000	0.47740	3.142000	0.50601	2.355000	0.79922	0.456000	0.33151	CCT		0.597	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		17	67	1	0	4.75885e-15	1	6.09718e-15	17	67				
CSMD3	114788	broad.mit.edu	37	8	113529312	113529312	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113529312A>T	ENST00000297405.5	-	28	4951	c.4707T>A	c.(4705-4707)atT>atA	p.I1569I	CSMD3_ENST00000455883.2_Silent_p.I1465I|CSMD3_ENST00000352409.3_Silent_p.I1569I|CSMD3_ENST00000343508.3_Silent_p.I1529I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1569	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTACCTGAATGCAGGTTA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4705-4707)atT>atA		CUB and Sushi multiple domains 3							140.0	132.0	135.0					8																	113529312		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113529312A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4707T>A	8.37:g.113529312A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.I1569I|CSMD3_ENST00000343508.3_Silent_p.I1529I|CSMD3_ENST00000455883.2_Silent_p.I1465I	p.I1569I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4951	-			1569			Sushi 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4707T>A	CCDS6315.1																																																																																				0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	79	0	0	0	1	0	11	79				
DPH1	1801	broad.mit.edu	37	17	1945107	1945107	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1945107G>T	ENST00000263083.6	+	12	1333	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000570477.1_Missense_Mutation_p.D350Y|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	430					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCGAGGACTGCAGCTG	0.697																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1288-1290)Gac>Tac		diphthamide biosynthesis 1							10.0	14.0	12.0					17																	1945107		2048	4159	6207	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1945107G>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.1288G>T	17.37:g.1945107G>T	ENSP00000263083:p.Asp430Tyr					DPH1_ENST00000570477.1_Missense_Mutation_p.D350Y	p.D430Y	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			12	1333	+			430					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.1288G>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615674	0.46631	.	.	ENSG00000108963	ENST00000263083	T	0.32515	1.45	5.53	0.78	0.18556	.	1.023390	0.07781	N	0.953433	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33379	0.41;0.214;0.214	B;B;B	0.28784	0.094;0.058;0.058	T	0.21348	-1.0248	10	0.59425	D	0.04	1.417	4.99	0.14209	0.3789:0.1432:0.4779:0.0	.	440;440;430	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	Y	430	ENSP00000263083:D430Y	ENSP00000263083:D430Y	D	+	1	0	DPH1	1891857	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	-0.051000	0.11885	-0.064000	0.13043	0.591000	0.81541	GAC		0.697	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		4	4	1	0	0.00909568	1	0.00947522	4	4				
HIVEP2	3097	broad.mit.edu	37	6	143095871	143095871	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143095871T>C	ENST00000367604.1	-	4	644	c.5A>G	c.(4-6)gAc>gGc	p.D2G	HIVEP2_ENST00000367603.2_Missense_Mutation_p.D2G|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D2G			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTCCCCAGTGTCCATTTTGTT	0.453																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4-6)gAc>gGc		human immunodeficiency virus type I enhancer binding protein 2							164.0	150.0	155.0					6																	143095871		1932	4154	6086	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143095871T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5A>G	6.37:g.143095871T>C	ENSP00000356576:p.Asp2Gly					HIVEP2_ENST00000367604.1_Missense_Mutation_p.D2G|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D2G	p.D2G	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	747	-			2					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5A>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.519192	0.64634	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02837	4.14;4.14;4.14	5.56	4.41	0.53225	.	0.093614	0.64402	D	0.000001	T	0.02083	0.0065	L	0.51422	1.61	0.38289	D	0.942642	D	0.53151	0.958	P	0.44447	0.45	T	0.53641	-0.8410	10	0.72032	D	0.01	-20.8935	11.562	0.50782	0.0:0.0702:0.0:0.9298	.	2	P31629	ZEP2_HUMAN	G	2	ENSP00000356576:D2G;ENSP00000356575:D2G;ENSP00000012134:D2G	ENSP00000012134:D2G	D	-	2	0	HIVEP2	143137564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.341000	0.65964	1.053000	0.40415	0.528000	0.53228	GAC		0.453	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			47	91	0	0	0	1	0	47	91				
ZBTB14	7541	broad.mit.edu	37	18	5291505	5291505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5291505C>A	ENST00000357006.4	-	4	1040	c.702G>T	c.(700-702)caG>caT	p.Q234H	ZBTB14_ENST00000400143.3_Missense_Mutation_p.Q234H	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	234					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CTTGAGGGGTCTGGGACCCCA	0.488																																						ENST00000357006.4																			0											c.(700-702)caG>caT		zinc finger and BTB domain containing 14							85.0	92.0	90.0					18																	5291505		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291505C>A	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.702G>T	18.37:g.5291505C>A	ENSP00000349503:p.Gln234His					ZBTB14_ENST00000400143.3_Missense_Mutation_p.Q234H	p.Q234H	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1040	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.702G>T	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294536	0.23564	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.10099	2.91;2.91	5.92	4.13	0.48395	.	0.063941	0.64402	D	0.000006	T	0.05686	0.0149	N	0.08118	0	0.46167	D	0.998904	B	0.02656	0.0	B	0.04013	0.001	T	0.31641	-0.9936	10	0.40728	T	0.16	-27.2726	9.468	0.38824	0.0:0.6847:0.0:0.3153	.	234	O43829	ZF161_HUMAN	H	234	ENSP00000349503:Q234H;ENSP00000383009:Q234H	ENSP00000349503:Q234H	Q	-	3	2	ZFP161	5281505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.189000	0.32114	1.503000	0.48686	0.650000	0.86243	CAG		0.488	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		7	101	1	0	0.0293803	1	0.0301098	7	101				
KANK1	23189	broad.mit.edu	37	9	711585	711585	+	Silent	SNP	C	C	T	rs372115346	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:711585C>T	ENST00000382303.1	+	7	1471	c.819C>T	c.(817-819)cgC>cgT	p.R273R	KANK1_ENST00000382297.2_Silent_p.R273R|KANK1_ENST00000382293.3_Silent_p.R115R|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	273					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCTGAAACGCCTGAAGGAGC	0.572													C|||	5	0.000998403	0.0	0.0	5008	,	,		19711	0.005		0.0	False		,,,				2504	0.0					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(817-819)cgC>cgT		KN motif and ankyrin repeat domains 1							81.0	78.0	79.0					9																	711585		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:711585C>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.819C>T	9.37:g.711585C>T						KANK1_ENST00000382293.3_Silent_p.R115R|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.R273R	p.R273R	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	1471	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	273					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.819C>T	CCDS34976.1																																																																																				0.572	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		18	36	0	0	0	1	0	18	36				
IFNGR2	3460	broad.mit.edu	37	21	34804627	34804627	+	Silent	SNP	C	C	T	rs538724312		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34804627C>T	ENST00000290219.6	+	5	1353	c.705C>T	c.(703-705)taC>taT	p.Y235Y	IFNGR2_ENST00000381995.1_Silent_p.Y254Y|IFNGR2_ENST00000405436.1_Silent_p.Y156Y	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	235	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TATCTTGCTACGAAACAATGG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		23676	0.001		0.0	False		,,,				2504	0.0					ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(703-705)taC>taT		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						99.0	99.0	99.0					21																	34804627		2203	4300	6503	SO:0001819	synonymous_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34804627C>T		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.705C>T	21.37:g.34804627C>T						IFNGR2_ENST00000405436.1_Silent_p.Y156Y|IFNGR2_ENST00000381995.1_Silent_p.Y254Y	p.Y235Y	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			5	1353	+			235					Q9BTL5	Silent	SNP	ENST00000290219.6	37	c.705C>T	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	C	2.956	-0.215769	0.06101	.	.	ENSG00000159128	ENST00000421802	.	.	.	4.76	0.384	0.16244	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	-6.298	4.2546	0.10710	0.0:0.4932:0.1841:0.3227	.	.	.	.	M	1	.	.	T	+	2	0	IFNGR2	33726497	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-1.742000	0.01835	0.153000	0.19213	0.563000	0.77884	ACG		0.398	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			59	81	0	0	0	1	0	59	81				
C9orf84	158401	broad.mit.edu	37	9	114518719	114518719	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114518719G>T	ENST00000318737.4	-	6	684	c.556C>A	c.(556-558)Cca>Aca	p.P186T	C9orf84_ENST00000394779.3_Missense_Mutation_p.P147T|C9orf84_ENST00000394777.4_Missense_Mutation_p.P147T|C9orf84_ENST00000374283.5_Missense_Mutation_p.P250T|C9orf84_ENST00000374287.3_Missense_Mutation_p.P186T	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	186										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGAGGCTTGGAGGTATTAAG	0.308																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(439-441)Cca>Aca		chromosome 9 open reading frame 84							66.0	69.0	68.0					9																	114518719		2202	4295	6497	SO:0001583	missense	158401							g.chr9:114518719G>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.556C>A	9.37:g.114518719G>T	ENSP00000322108:p.Pro186Thr					C9orf84_ENST00000318737.4_Missense_Mutation_p.P186T|C9orf84_ENST00000394777.4_Missense_Mutation_p.P147T|C9orf84_ENST00000374287.3_Missense_Mutation_p.P186T|C9orf84_ENST00000374283.5_Missense_Mutation_p.P250T	p.P147T	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			4	683	-			186					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.439C>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.348860	0.00219	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.68	-5.11	0.02901	.	0.647518	0.14424	N	0.320446	T	0.13798	0.0334	N	0.02916	-0.46	0.09310	N	1	B;B;B;B	0.12630	0.001;0.001;0.003;0.006	B;B;B;B	0.10450	0.001;0.001;0.003;0.005	T	0.26121	-1.0112	10	0.12766	T	0.61	-1.314	2.4074	0.04416	0.1227:0.2532:0.4042:0.22	.	147;250;186;147	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	T	147;147;186;186;250	ENSP00000378259:P147T;ENSP00000378257:P147T;ENSP00000363405:P186T;ENSP00000322108:P186T;ENSP00000363401:P250T	ENSP00000322108:P186T	P	-	1	0	C9orf84	113558540	0.011000	0.17503	0.102000	0.21198	0.049000	0.14656	-0.264000	0.08658	-0.466000	0.06943	-0.467000	0.05162	CCA		0.308	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		8	56	1	0	1.06961e-07	1	1.26574e-07	8	56				
ZSCAN1	284312	broad.mit.edu	37	19	58564856	58564856	+	Missense_Mutation	SNP	G	G	A	rs540680562		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58564856G>A	ENST00000282326.1	+	6	911	c.664G>A	c.(664-666)Gca>Aca	p.A222T		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	222					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGACCTTCTCGCAGGGCCCTC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17061	0.001		0.0	False		,,,				2504	0.0					ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(664-666)Gca>Aca		zinc finger and SCAN domain containing 1							48.0	51.0	50.0					19																	58564856		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564856G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.664G>A	19.37:g.58564856G>A	ENSP00000282326:p.Ala222Thr						p.A222T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	911	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	222					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.664G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	2.679	-0.275734	0.05679	.	.	ENSG00000152467	ENST00000282326	T	0.04015	3.73	0.88	-1.76	0.08006	.	.	.	.	.	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	0.999999	B	0.17667	0.023	B	0.10450	0.005	T	0.44314	-0.9336	9	0.11794	T	0.64	.	3.4411	0.07463	0.3059:0.4667:0.2273:0.0	.	222	Q8NBB4	ZSCA1_HUMAN	T	222	ENSP00000282326:A222T	ENSP00000282326:A222T	A	+	1	0	ZSCAN1	63256668	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.060000	0.14342	-1.991000	0.00976	-0.802000	0.03209	GCA		0.622	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		4	47	0	0	0	1	0	4	47				
NBR1	4077	broad.mit.edu	37	17	41347051	41347051	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41347051C>A	ENST00000422280.1	+	14	2204	c.1745C>A	c.(1744-1746)cCt>cAt	p.P582H	NBR1_ENST00000589872.1_Missense_Mutation_p.P582H|NBR1_ENST00000341165.6_Missense_Mutation_p.P582H|NBR1_ENST00000542611.1_Missense_Mutation_p.P561H|NBR1_ENST00000389312.4_Missense_Mutation_p.P582H|NBR1_ENST00000590996.1_Missense_Mutation_p.P582H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	582	ATG8 family protein-binding.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CACAACACCCCTGTGGGTAAG	0.418																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1744-1746)cCt>cAt		neighbor of BRCA1 gene 1							95.0	95.0	95.0					17																	41347051		1919	4114	6033	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41347051C>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1745C>A	17.37:g.41347051C>A	ENSP00000411250:p.Pro582His					NBR1_ENST00000341165.6_Missense_Mutation_p.P582H|NBR1_ENST00000590996.1_Missense_Mutation_p.P582H|NBR1_ENST00000589872.1_Missense_Mutation_p.P582H|NBR1_ENST00000542611.1_Missense_Mutation_p.P561H|NBR1_ENST00000389312.4_Missense_Mutation_p.P582H	p.P582H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	14	2204	+		Breast(137;0.00086)	582			ATG8 family protein-binding.		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.1745C>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859749	0.91433	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.78481	-0.65;-1.18;-0.65;-0.64	5.75	5.75	0.90469	.	.	.	.	.	D	0.88654	0.6495	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89018	0.3433	9	0.87932	D	0	-8.233	19.9433	0.97172	0.0:1.0:0.0:0.0	.	561;582;582	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	H	582;561;582;582;582	ENSP00000411250:P582H;ENSP00000437545:P561H;ENSP00000343479:P582H;ENSP00000373963:P582H	ENSP00000343479:P582H	P	+	2	0	NBR1	38600577	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.294000	0.78760	2.716000	0.92895	0.655000	0.94253	CCT		0.418	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		8	12	1	0	5.50884e-06	1	6.28354e-06	8	12				
SLC3A2	6520	broad.mit.edu	37	11	62655861	62655861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655861G>A	ENST00000377890.2	+	12	1757	c.1589G>A	c.(1588-1590)cGg>cAg	p.R530Q	SLC3A2_ENST00000535296.1_Missense_Mutation_p.R499Q|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R531Q|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R468Q|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R75Q|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R429Q|SLC3A2_ENST00000377892.1_Missense_Mutation_p.R561Q	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	530					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						AGTGACCAGCGGAGTAAGGAG	0.572																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(1681-1683)cGg>cAg		solute carrier family 3 (amino acid transporter heavy chain), member 2							56.0	53.0	54.0					11																	62655861		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62655861G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1589G>A	11.37:g.62655861G>A	ENSP00000367122:p.Arg530Gln					SLC3A2_ENST00000377891.2_Missense_Mutation_p.R531Q|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R499Q|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R429Q|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R75Q|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R468Q|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R530Q	p.R561Q			P08195	4F2_HUMAN			13	1906	+			530					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1682G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046668	0.93740	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000536981	D;D;D;D;D;D;D	0.99912	-6.39;-6.51;-6.54;-6.46;-6.46;-6.55;-7.96	4.67	4.67	0.58626	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	M	0.93328	3.405	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.95774	0.8811	10	0.87932	D	0	-24.2849	15.1304	0.72517	0.0:0.0:1.0:0.0	.	468;499;530;429;561	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	Q	561;531;530;531;468;499;429;411;75	ENSP00000367124:R561Q;ENSP00000367123:R531Q;ENSP00000367122:R530Q;ENSP00000367121:R468Q;ENSP00000444236:R499Q;ENSP00000340815:R429Q;ENSP00000444439:R75Q	ENSP00000340815:R429Q	R	+	2	0	SLC3A2	62412437	0.996000	0.38824	0.558000	0.28319	0.868000	0.49771	4.850000	0.62889	2.169000	0.68431	0.298000	0.19748	CGG		0.572	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		8	74	0	0	0	1	0	8	74				
TMPRSS9	360200	broad.mit.edu	37	19	2416729	2416729	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2416729C>A	ENST00000332578.3	+	11	1837	c.1837C>A	c.(1837-1839)Ctg>Atg	p.L613M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	613	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGTCTGCCTGCCCCTGGC	0.617																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1837-1839)Ctg>Atg		transmembrane protease, serine 9							45.0	48.0	47.0					19																	2416729		2203	4299	6502	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2416729C>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1837C>A	19.37:g.2416729C>A	ENSP00000330264:p.Leu613Met						p.L613M	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1837	+			613			Peptidase S1 2.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.1837C>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510358	0.64522	.	.	ENSG00000178297	ENST00000332578	T	0.70869	-0.52	5.17	3.05	0.35203	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46758	D	0.000273	D	0.85248	0.5653	M	0.91717	3.235	0.50632	D	0.999881	D	0.89917	1.0	D	0.97110	1.0	D	0.85728	0.1329	10	0.87932	D	0	.	9.973	0.41765	0.0:0.8332:0.0:0.1668	.	613	Q7Z410	TMPS9_HUMAN	M	613	ENSP00000330264:L613M	ENSP00000330264:L613M	L	+	1	2	TMPRSS9	2367729	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.580000	0.60942	0.583000	0.29574	-0.350000	0.07774	CTG		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		5	26	1	0	1.23904e-05	1	1.39987e-05	5	26				
KIAA1377	57562	broad.mit.edu	37	11	101829098	101829098	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101829098G>A	ENST00000263468.8	+	5	975		c.e5+1		KIAA1377_ENST00000537689.1_Splice_Site	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377											breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAATTTGCAAGTATGAAACTA	0.353																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.e5+1		KIAA1377							70.0	76.0	74.0					11																	101829098		2203	4298	6501	SO:0001630	splice_region_variant	57562						protein binding	g.chr11:101829098G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.705+1G>A	11.37:g.101829098G>A						KIAA1377_ENST00000537689.1_Splice_Site		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	975	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)						Q4G0U6	Splice_Site	SNP	ENST00000263468.8	37		CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921460	0.73213	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3656	0.90390	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1377	101334308	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.099000	0.71466	2.631000	0.89168	0.585000	0.79938	.		0.353	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	Intron	21	80	0	0	0	1	0	21	80				
SALL4	57167	broad.mit.edu	37	20	50406792	50406792	+	Nonsense_Mutation	SNP	G	G	A	rs371138116		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50406792G>A	ENST00000217086.4	-	2	2341	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	744					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGGCGCTGCAGGTTAAAA	0.592																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2230-2232)Cag>Tag		spalt-like transcription factor 4							52.0	46.0	48.0					20																	50406792		2203	4300	6503	SO:0001587	stop_gained	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406792G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2230C>T	20.37:g.50406792G>A	ENSP00000217086:p.Gln744*					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.Q744*	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2341	-			744					A2A2D8|Q540H3|Q6Y8G6	Nonsense_Mutation	SNP	ENST00000217086.4	37	c.2230C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	37	6.354277	0.97498	.	.	ENSG00000101115	ENST00000217086	.	.	.	5.67	5.67	0.87782	.	0.000000	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-28.6981	19.7711	0.96366	0.0:0.0:1.0:0.0	.	.	.	.	X	744	.	ENSP00000217086:Q744X	Q	-	1	0	SALL4	49840199	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	6.320000	0.72876	2.654000	0.90174	0.655000	0.94253	CAG		0.592	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	12	0	0	0	1	0	7	12				
CDH17	1015	broad.mit.edu	37	8	95183096	95183096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95183096C>A	ENST00000027335.3	-	8	1025	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.E301*|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTTTTCTTCTCGGTCCAAG	0.418																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(901-903)Gaa>Taa		cadherin 17, LI cadherin (liver-intestine)							156.0	155.0	155.0					8																	95183096		2203	4300	6503	SO:0001587	stop_gained	1015					integral to membrane	calcium ion binding	g.chr8:95183096C>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.901G>T	8.37:g.95183096C>A	ENSP00000027335:p.Glu301*					CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.E301*	p.E301*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		8	1025	-	Breast(36;4.65e-06)		301			Cadherin 3.		Q15336|Q2M2E0	Nonsense_Mutation	SNP	ENST00000027335.3	37	c.901G>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	39	7.558342	0.98358	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	.	.	.	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.0802	17.8824	0.88844	0.0:1.0:0.0:0.0	.	.	.	.	X	301	.	ENSP00000027335:E301X	E	-	1	0	CDH17	95252272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.070000	0.64376	2.810000	0.96702	0.650000	0.86243	GAA		0.418	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		6	105	1	0	0.0293803	1	0.0301098	6	105				
ERCC2	2068	broad.mit.edu	37	19	45856054	45856054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45856054C>T	ENST00000391945.4	-	20	1929	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	ERCC2_ENST00000391944.3_Missense_Mutation_p.V540I	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	618	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.V618I(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AACATGATGACGGCCCGCCCG	0.617			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.V618I(1)	lung(1)	large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1852-1854)Gtc>Atc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							67.0	61.0	63.0					19																	45856054		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45856054C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1852G>A	19.37:g.45856054C>T	ENSP00000375809:p.Val618Ile					ERCC2_ENST00000391944.3_Missense_Mutation_p.V540I	p.V618I	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	20	1929	-		Ovarian(192;0.0728)|all_neural(266;0.112)	618			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1852G>A	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473285	0.96274	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.81908	-1.55;-1.55	5.13	5.13	0.70059	Helicase, ATP-dependent, c2 type (1);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	M	0.91038	3.17	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.995	D;D;P	0.64321	0.924;0.915;0.804	D	0.93652	0.6974	10	0.87932	D	0	-64.0864	16.1093	0.81247	0.0:1.0:0.0:0.0	.	540;618;311	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	I	568;594;618;540	ENSP00000375809:V618I;ENSP00000375808:V540I	ENSP00000375805:V568I	V	-	1	0	ERCC2	50547894	0.998000	0.40836	0.998000	0.56505	0.994000	0.84299	3.983000	0.56916	2.667000	0.90743	0.561000	0.74099	GTC		0.617	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		13	28	0	0	0	1	0	13	28				
PCDHA5	56143	broad.mit.edu	37	5	140203007	140203007	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140203007G>A	ENST00000529859.1	+	1	1647	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T549T|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.T549T|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.701																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1645-1647)acG>acA									52.0	58.0	56.0					5																	140203007		2201	4292	6493	SO:0001819	synonymous_variant	0							g.chr5:140203007G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1647G>A	5.37:g.140203007G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T549T|PCDHA5_ENST00000378126.3_Silent_p.T549T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.T549T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1647	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1647G>A	CCDS54917.1																																																																																				0.701	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		32	55	0	0	0	1	0	32	55				
LRP1B	53353	broad.mit.edu	37	2	141232864	141232864	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141232864G>A	ENST00000389484.3	-	60	10439	c.9468C>T	c.(9466-9468)ggC>ggT	p.G3156G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3156					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCAACACGGCCAATATGAG	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9466-9468)ggC>ggT		low density lipoprotein receptor-related protein 1B							90.0	86.0	87.0					2																	141232864		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232864G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9468C>T	2.37:g.141232864G>A		TSP Lung(27;0.18)					p.G3156G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	60	10439	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3156					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.9468C>T	CCDS2182.1																																																																																				0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		28	37	0	0	0	1	0	28	37				
CES3	23491	broad.mit.edu	37	16	67005218	67005218	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67005218T>C	ENST00000303334.4	+	10	1358	c.1287T>C	c.(1285-1287)ctT>ctC	p.L429L	CES3_ENST00000543856.1_Silent_p.L68L|CES3_ENST00000394037.1_Silent_p.L429L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	429						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAAGATACCTTCGAGGTAAGC	0.552																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1285-1287)ctT>ctC		carboxylesterase 3							130.0	111.0	117.0					16																	67005218		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67005218T>C	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1287T>C	16.37:g.67005218T>C						CES3_ENST00000543856.1_Silent_p.L68L|CES3_ENST00000394037.1_Silent_p.L429L	p.L429L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	10	1358	+		Ovarian(137;0.0563)	429					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.1287T>C	CCDS10826.1																																																																																				0.552	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		6	61	0	0	0	1	0	6	61				
CCDC152	100129792	broad.mit.edu	37	5	42801186	42801186	+	3'UTR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801186C>T	ENST00000361970.5	+	0	2155				SEPP1_ENST00000511224.1_Missense_Mutation_p.R261Q|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.R261Q|SEPP1_ENST00000507920.1_Missense_Mutation_p.E151K|SEPP1_ENST00000514985.1_Missense_Mutation_p.R261Q	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						TGGCATATCTCGGTTCTCTGG	0.458																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(781-783)cGa>cAa		selenoprotein P, plasma, 1							66.0	66.0	66.0					5																	42801186		1996	4178	6174	SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42801186C>T		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1303C>T	5.37:g.42801186C>T						SEPP1_ENST00000506577.1_Missense_Mutation_p.R261Q|SEPP1_ENST00000511224.1_Missense_Mutation_p.R261Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.E151K	p.R261Q	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	1038	-			261					B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	ENST00000361970.5	37	c.782G>A	CCDS47203.1	.	.	.	.	.	.	.	.	.	.	c	2.646	-0.283046	0.05642	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.64	2.49	0.30216	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.19575	N	0.999966	.	.	.	.	.	.	T	0.34004	-0.9846	7	0.14252	T	0.57	.	7.3345	0.26603	0.0:0.568:0.0:0.432	.	.	.	.	Q	261	ENSP00000420939:R261Q;ENSP00000427671:R261Q;ENSP00000425915:R261Q;ENSP00000421626:R261Q	ENSP00000425915:R261Q	R	-	2	0	SEPP1	42836943	0.050000	0.20438	0.014000	0.15608	0.014000	0.08584	0.983000	0.29552	0.752000	0.32923	-0.185000	0.12909	CGA		0.458	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		15	17	0	0	0	1	0	15	17				
PITX2	5308	broad.mit.edu	37	4	111539657	111539657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539657C>T	ENST00000354925.2	-	7	2283	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PITX2_ENST00000394598.2_Missense_Mutation_p.S193N|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394595.3_Silent_p.E124E|PITX2_ENST00000355080.5_Missense_Mutation_p.S147N|PITX2_ENST00000306732.3_Missense_Mutation_p.S200N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	193					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGGGGAAGCTCTTGGTGGA	0.537																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(577-579)aGc>aAc		paired-like homeodomain 2							85.0	74.0	78.0					4																	111539657		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539657C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.578G>A	4.37:g.111539657C>T	ENSP00000347004:p.Ser193Asn					PITX2_ENST00000306732.3_Missense_Mutation_p.S200N|PITX2_ENST00000394598.2_Missense_Mutation_p.S193N|PITX2_ENST00000394595.3_Silent_p.E124E|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.S147N	p.S193N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2283	-		Hepatocellular(203;0.217)	193					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.578G>A	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452172	0.43531	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049	D;D;D;D;D;T	0.93247	-2.86;-2.98;-3.12;-2.98;-3.19;-0.77	4.89	4.89	0.63831	.	0.119893	0.85682	D	0.000000	D	0.93106	0.7805	N	0.22421	0.69	0.80722	D	1	B;D;B;B	0.57899	0.004;0.981;0.103;0.165	B;D;B;B	0.63597	0.008;0.916;0.038;0.051	D	0.90836	0.4720	10	0.20519	T	0.43	.	18.6339	0.91370	0.0:1.0:0.0:0.0	.	147;147;193;200	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	N	200;193;147;193;193;117	ENSP00000304169:S200N;ENSP00000378097:S193N;ENSP00000347192:S147N;ENSP00000347004:S193N;ENSP00000421454:S193N;ENSP00000450938:S117N	ENSP00000304169:S200N	S	-	2	0	PITX2	111759106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.712000	0.92718	0.563000	0.77884	AGC		0.537	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			10	26	0	0	0	1	0	10	26				
PER2	8864	broad.mit.edu	37	2	239186389	239186389	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239186389C>A	ENST00000254657.3	-	2	468	c.189G>T	c.(187-189)aaG>aaT	p.K63N	PER2_ENST00000355768.2_Missense_Mutation_p.K63N|PER2_ENST00000440245.1_Missense_Mutation_p.K63N|PER2_ENST00000254658.3_Missense_Mutation_p.K63N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	63					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCCCCAGCTCCTTCCCACTGT	0.597																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(187-189)aaG>aaT		period circadian clock 2							64.0	64.0	64.0					2																	239186389		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239186389C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.189G>T	2.37:g.239186389C>A	ENSP00000254657:p.Lys63Asn					PER2_ENST00000440245.1_Missense_Mutation_p.K63N|PER2_ENST00000355768.2_Missense_Mutation_p.K63N|PER2_ENST00000254658.3_Missense_Mutation_p.K63N	p.K63N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	2	468	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	63					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.189G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034391	0.35893	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.61158	2.36;0.36;1.43;0.36;0.13	4.86	3.74	0.42951	.	1.288120	0.04801	N	0.433439	T	0.65491	0.2696	M	0.71036	2.16	0.39978	D	0.974886	D;P;P;D	0.56287	0.967;0.799;0.95;0.975	P;B;P;P	0.53861	0.736;0.276;0.72;0.717	T	0.67098	-0.5756	10	0.27082	T	0.32	-18.0084	3.7616	0.08606	0.2347:0.6174:0.0:0.1479	.	63;63;63;63	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	N	63	ENSP00000254657:K63N;ENSP00000254658:K63N;ENSP00000397516:K63N;ENSP00000348013:K63N;ENSP00000405891:K63N	ENSP00000254657:K63N	K	-	3	2	PER2	238851128	0.997000	0.39634	0.988000	0.46212	0.422000	0.31414	0.298000	0.19120	2.422000	0.82143	0.563000	0.77884	AAG		0.597	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		6	41	1	0	0.0293803	1	0.0301098	6	41				
MLNR	2862	broad.mit.edu	37	13	49794762	49794762	+	Missense_Mutation	SNP	C	C	T	rs192274215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49794762C>T	ENST00000218721.1	+	1	289	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	MLNR_ENST00000398307.1_Missense_Mutation_p.R97C	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	97					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGACCTGTACCGCCTCTGGCG	0.687																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(289-291)Cgc>Tgc		motilin receptor							35.0	28.0	30.0					13																	49794762		2199	4288	6487	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49794762C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.289C>T	13.37:g.49794762C>T	ENSP00000218721:p.Arg97Cys					MLNR_ENST00000218721.1_Missense_Mutation_p.R97C	p.R97C			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	289	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	97						Missense_Mutation	SNP	ENST00000218721.1	37	c.289C>T	CCDS9414.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	27.9	4.876157	0.91664	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.71934	-0.61;-0.61	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.84547	0.5496	M	0.85630	2.765	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	D	0.86073	0.1539	10	0.44086	T	0.13	-15.1565	14.7432	0.69472	0.0:1.0:0.0:0.0	.	97	O43193	MTLR_HUMAN	C	97	ENSP00000218721:R97C;ENSP00000381352:R97C	ENSP00000218721:R97C	R	+	1	0	MLNR	48692763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.700000	0.54786	1.796000	0.52611	0.558000	0.71614	CGC		0.687	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		3	7	0	0	0	1	0	3	7				
FAM172A	83989	broad.mit.edu	37	5	93300165	93300165	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93300165G>T	ENST00000395965.3	-	5	515	c.373C>A	c.(373-375)Cca>Aca	p.P125T	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.P79T|FAM172A_ENST00000505869.1_Missense_Mutation_p.P79T|FAM172A_ENST00000509739.1_Missense_Mutation_p.P42T	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	125						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGACTTACTGGAATAGATACT	0.269																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(373-375)Cca>Aca		family with sequence similarity 172, member A							27.0	27.0	27.0					5																	93300165		2176	4258	6434	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:93300165G>T		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.373C>A	5.37:g.93300165G>T	ENSP00000379294:p.Pro125Thr					FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.P79T|FAM172A_ENST00000509739.1_Missense_Mutation_p.P42T|FAM172A_ENST00000505869.1_Missense_Mutation_p.P79T	p.P125T	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			5	515	-			125					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.373C>A	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630159	0.46944	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.60797	0.16;0.16;2.5;0.16	5.72	5.72	0.89469	Arb2 domain (1);	0.050513	0.85682	D	0.000000	D	0.82332	0.5014	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.999	D	0.85324	0.1086	10	0.66056	D	0.02	-11.87	19.8711	0.96851	0.0:0.0:1.0:0.0	.	42;79;125;125	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	T	125;79;42;79	ENSP00000379294:P125T;ENSP00000426284:P79T;ENSP00000421834:P42T;ENSP00000423841:P79T	ENSP00000379294:P125T	P	-	1	0	FAM172A	93325921	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.631000	0.90991	2.689000	0.91719	0.591000	0.81541	CCA		0.269	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		9	16	1	0	5.4927e-09	1	6.6252e-09	9	16				
TSPYL2	64061	broad.mit.edu	37	X	53117082	53117082	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53117082C>T	ENST00000375442.4	+	7	2175	c.2043C>T	c.(2041-2043)aaC>aaT	p.N681N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	681					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGTCCCAAACGGTTGGGCCA	0.532											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(2041-2043)aaC>aaT		TSPY-like 2							140.0	118.0	125.0					X																	53117082		2203	4300	6503	SO:0001819	synonymous_variant	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53117082C>T	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.2043C>T	X.37:g.53117082C>T			OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	990		p.N681N	NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			7	2175	+			681					O94799|Q96DG7|Q9BZW6	Silent	SNP	ENST00000375442.4	37	c.2043C>T	CCDS14350.1																																																																																				0.532	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		15	48	0	0	0	1	0	15	48				
NFKB1	4790	broad.mit.edu	37	4	103528835	103528835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528835C>T	ENST00000505458.1	+	19	2428	c.2151C>T	c.(2149-2151)taC>taT	p.Y717Y	NFKB1_ENST00000600343.1_Silent_p.Y537Y|NFKB1_ENST00000226574.4_Silent_p.Y718Y|NFKB1_ENST00000394820.4_Silent_p.Y717Y			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	717	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GTACTACCTACGATGGAACCA	0.532																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2152-2154)taC>taT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						179.0	161.0	167.0					4																	103528835		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103528835C>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2151C>T	4.37:g.103528835C>T						NFKB1_ENST00000600343.1_Silent_p.Y537Y|NFKB1_ENST00000505458.1_Silent_p.Y717Y|NFKB1_ENST00000394820.4_Silent_p.Y717Y	p.Y718Y	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	19	2621	+		Hepatocellular(203;0.217)	717			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.2154C>T	CCDS54783.1																																																																																				0.532	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			49	77	0	0	0	1	0	49	77				
HIRA	7290	broad.mit.edu	37	22	19385612	19385612	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19385612T>C	ENST00000263208.5	-	6	654		c.e6-2		HIRA_ENST00000464189.1_Splice_Site|HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site|HIRA_ENST00000546308.1_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCATCACATCTGAAAGAAGAC	0.527																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.e6-2		histone cell cycle regulator							104.0	95.0	98.0					22																	19385612		2203	4300	6503	SO:0001630	splice_region_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19385612T>C	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.398-2A>G	22.37:g.19385612T>C						HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000464189.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site		NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			6	654	-	Colorectal(54;0.0993)							Q05BU9|Q8IXN2	Splice_Site	SNP	ENST00000263208.5	37		CCDS13759.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845289	0.91197	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6519	0.77104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HIRA	17765612	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.306000	0.78905	2.285000	0.76669	0.528000	0.53228	.		0.527	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	Intron	3	19	0	0	0	1	0	3	19				
PRDM14	63978	broad.mit.edu	37	8	70964426	70964426	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70964426G>A	ENST00000276594.2	-	8	1803	c.1602C>T	c.(1600-1602)agC>agT	p.S534S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	534					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGACATGGCTGTCATGGG	0.502																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1600-1602)agC>agT		PR domain containing 14							150.0	140.0	143.0					8																	70964426		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70964426G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1602C>T	8.37:g.70964426G>A							p.S534S	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		8	1803	-	Breast(64;0.193)		534					Q86UX9	Silent	SNP	ENST00000276594.2	37	c.1602C>T	CCDS6206.1																																																																																				0.502	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			46	84	0	0	0	1	0	46	84				
SLC2A3	6515	broad.mit.edu	37	12	8088619	8088619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8088619C>A	ENST00000075120.7	-	1	252	c.12G>T	c.(10-12)caG>caT	p.Q4H		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	4					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCTTACCTTCTGTGTCCCCA	0.358																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(10-12)caG>caT		solute carrier family 2 (facilitated glucose transporter), member 3							165.0	169.0	168.0					12																	8088619		2202	4300	6502	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8088619C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.12G>T	12.37:g.8088619C>A	ENSP00000075120:p.Gln4His						p.Q4H	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	1	252	-			4					B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.12G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124305	0.37533	.	.	ENSG00000059804	ENST00000075120;ENST00000544291	D;D	0.86497	-1.7;-2.13	3.57	-3.16	0.05217	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.78489	0.4291	L	0.56199	1.76	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63435	-0.6638	9	0.52906	T	0.07	.	0.1439	0.00086	0.3052:0.2465:0.15:0.2984	.	4	P11169	GTR3_HUMAN	H	4	ENSP00000075120:Q4H;ENSP00000440750:Q4H	ENSP00000075120:Q4H	Q	-	3	2	SLC2A3	7979886	0.000000	0.05858	0.007000	0.13788	0.928000	0.56348	-2.548000	0.00930	-0.754000	0.04715	-0.140000	0.14226	CAG		0.358	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		18	111	1	0	2.94398e-08	1	3.51695e-08	18	111				
HLA-A	3105	broad.mit.edu	37	6	29912306	29912306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29912306G>A	ENST00000396634.1	+	7	1266	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	HLA-A_ENST00000376809.5_Missense_Mutation_p.V309M|HLA-A_ENST00000376806.5_Missense_Mutation_p.V309M|HLA-A_ENST00000376802.2_Intron			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	309					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATCCCCATCGTGGGCATCAT	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(925-927)Gtg>Atg		major histocompatibility complex, class I, A							99.0	93.0	95.0					6																	29912306		1510	2709	4219	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912306G>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.925G>A	6.37:g.29912306G>A	ENSP00000379873:p.Val309Met	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.V309M|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V309M	p.V309M			P30443	1A01_HUMAN			7	1266	+			309					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.925G>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.278671	0.23307	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00753	5.77;5.74;5.77	3.69	-7.38	0.01407	Immunoglobulin-like fold (3);	.	.	.	.	T	0.00580	0.0019	L	0.37697	1.125	0.09310	N	1	D;B;B;B;D	0.67145	0.996;0.03;0.019;0.03;0.991	D;B;B;B;P	0.64595	0.927;0.018;0.012;0.018;0.805	T	0.18903	-1.0322	9	0.87932	D	0	.	6.9829	0.24713	0.6143:0.0:0.2622:0.1235	.	188;309;309;309;309	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	M	309	ENSP00000379873:V309M;ENSP00000366002:V309M;ENSP00000366005:V309M	ENSP00000366002:V309M	V	+	1	0	HLA-A	30020285	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.450000	0.06803	-2.251000	0.00700	-0.443000	0.05667	GTG		0.597	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	48	0	0	0	1	0	4	48				
OGDH	4967	broad.mit.edu	37	7	44739829	44739829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44739829C>T	ENST00000222673.5	+	19	2562	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	OGDH_ENST00000543843.1_Silent_p.H791H|OGDH_ENST00000449767.1_Silent_p.H836H|OGDH_ENST00000444676.1_Silent_p.H855H|OGDH_ENST00000439616.2_Silent_p.H690H|OGDH_ENST00000447398.1_Silent_p.H851H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	840					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACTTCTTCCACGTGCTACGAC	0.567																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2518-2520)caC>caT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						146.0	111.0	123.0					7																	44739829		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44739829C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2520C>T	7.37:g.44739829C>T						OGDH_ENST00000449767.1_Silent_p.H836H|OGDH_ENST00000439616.2_Silent_p.H690H|OGDH_ENST00000444676.1_Silent_p.H855H|OGDH_ENST00000447398.1_Silent_p.H851H|OGDH_ENST00000543843.1_Silent_p.H791H	p.H840H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			19	2562	+			840					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2520C>T	CCDS34627.1																																																																																				0.567	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			8	99	0	0	0	1	0	8	99				
AKR1A1	10327	broad.mit.edu	37	1	46032281	46032281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46032281G>A	ENST00000372070.3	+	4	872	c.125G>A	c.(124-126)cGc>cAc	p.R42H	AKR1A1_ENST00000471651.1_Missense_Mutation_p.R42H|AKR1A1_ENST00000351829.4_Missense_Mutation_p.R42H	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	42					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GTAGGCTACCGCCACATTGAT	0.517																																						ENST00000372070.3																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(124-126)cGc>cAc		aldo-keto reductase family 1, member A1 (aldehyde reductase)							121.0	107.0	112.0					1																	46032281		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46032281G>A	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.125G>A	1.37:g.46032281G>A	ENSP00000361140:p.Arg42His					AKR1A1_ENST00000351829.4_Missense_Mutation_p.R42H|AKR1A1_ENST00000471651.1_3'UTR	p.R42H	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			4	872	+	Acute lymphoblastic leukemia(166;0.155)		42					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.125G>A	CCDS523.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907018	0.92107	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.28255	1.62;1.62;1.62	6.13	4.27	0.50696	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72057	-0.4405	10	0.66056	D	0.02	.	13.2671	0.60139	0.1281:0.0:0.8719:0.0	.	42	P14550	AK1A1_HUMAN	H	42	ENSP00000361140:R42H;ENSP00000398414:R42H;ENSP00000312606:R42H	ENSP00000312606:R42H	R	+	2	0	AKR1A1	45804868	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.918000	0.87506	0.941000	0.37499	-0.151000	0.13558	CGC		0.517	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		48	58	0	0	0	1	0	48	58				
CPSF3	51692	broad.mit.edu	37	2	9571002	9571002	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9571002A>G	ENST00000238112.3	+	4	540	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	CPSF3_ENST00000460593.1_Missense_Mutation_p.K75E	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	112					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGATTATGTCAAAGTTAGGTA	0.348																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(223-225)Aaa>Gaa		cleavage and polyadenylation specific factor 3, 73kDa							84.0	89.0	88.0					2																	9571002		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9571002A>G	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.334A>G	2.37:g.9571002A>G	ENSP00000238112:p.Lys112Glu					CPSF3_ENST00000238112.3_Missense_Mutation_p.K112E	p.K75E			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	4	1361	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	112					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.223A>G	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829528	0.90955	.	.	ENSG00000119203	ENST00000238112;ENST00000475482;ENST00000427001;ENST00000460593	T;T;T	0.47177	0.85;0.85;0.85	5.65	5.65	0.86999	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	M	0.76938	2.355	0.80722	D	1	D;P	0.69078	0.997;0.634	D;P	0.65987	0.94;0.534	T	0.69946	-0.5007	10	0.45353	T	0.12	-9.999	15.8818	0.79208	1.0:0.0:0.0:0.0	.	112;112	E7ER23;Q9UKF6	.;CPSF3_HUMAN	E	112;75;112;75	ENSP00000238112:K112E;ENSP00000419744:K75E;ENSP00000418957:K75E	ENSP00000238112:K112E	K	+	1	0	CPSF3	9488453	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.236000	0.95360	2.158000	0.67659	0.528000	0.53228	AAA		0.348	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		34	43	0	0	0	1	0	34	43				
RUNDC3B	154661	broad.mit.edu	37	7	87339908	87339908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87339908C>T	ENST00000338056.3	+	5	857	c.446C>T	c.(445-447)gCa>gTa	p.A149V	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A132V|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A132V|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	149	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATCAGAGTAGCACTCATGGAA	0.289																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(445-447)gCa>gTa		RUN domain containing 3B							39.0	40.0	40.0					7																	87339908		2203	4296	6499	SO:0001583	missense	154661							g.chr7:87339908C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.446C>T	7.37:g.87339908C>T	ENSP00000337732:p.Ala149Val					ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A132V|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A132V	p.A149V	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			5	857	+	Esophageal squamous(14;0.00164)		149			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.446C>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499076	0.85069	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.43294	0.95;0.95;0.95	5.68	5.68	0.88126	RUN (3);	0.108414	0.64402	D	0.000007	T	0.62950	0.2470	M	0.81179	2.53	0.80722	D	1	B;B;B;B;D	0.53462	0.17;0.17;0.06;0.376;0.96	B;B;B;B;P	0.54924	0.068;0.068;0.028;0.104;0.764	T	0.65166	-0.6234	10	0.52906	T	0.07	-11.982	19.807	0.96535	0.0:1.0:0.0:0.0	.	132;132;54;132;149	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	V	149;132;132	ENSP00000337732:A149V;ENSP00000420394:A132V;ENSP00000378149:A132V	ENSP00000337732:A149V	A	+	2	0	RUNDC3B	87177844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.683000	0.46943	2.690000	0.91761	0.655000	0.94253	GCA		0.289	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		7	37	0	0	0	1	0	7	37				
RAB11FIP1	80223	broad.mit.edu	37	8	37730081	37730081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37730081C>A	ENST00000330843.4	-	4	2251	c.2239G>T	c.(2239-2241)Gga>Tga	p.G747*	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	747					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTCTCCTCCTGCTGCAAGC	0.572																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(2239-2241)Gga>Tga		RAB11 family interacting protein 1 (class I)							89.0	83.0	85.0					8																	37730081		2203	4300	6503	SO:0001587	stop_gained	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730081C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2239G>T	8.37:g.37730081C>A	ENSP00000331342:p.Gly747*					RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	p.G747*	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2251	-		Lung NSC(58;0.118)|all_lung(54;0.195)	747					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Nonsense_Mutation	SNP	ENST00000330843.4	37	c.2239G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.352657	0.95830	.	.	ENSG00000156675	ENST00000330843	.	.	.	4.54	-0.169	0.13339	.	1.217400	0.05884	N	0.627061	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.7114	3.3523	0.07156	0.0:0.3758:0.2077:0.4166	.	.	.	.	X	747	.	ENSP00000331342:G747X	G	-	1	0	RAB11FIP1	37849239	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.350000	0.02624	0.043000	0.15746	0.467000	0.42956	GGA		0.572	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		4	73	1	0	0.00909568	1	0.00947522	4	73				
STAB1	23166	broad.mit.edu	37	3	52556111	52556111	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556111G>A	ENST00000321725.6	+	59	6406	c.6330G>A	c.(6328-6330)caG>caA	p.Q2110Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2110	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGTAGCCAGGTAGGAACAA	0.652																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6328-6330)caG>caA		stabilin 1							59.0	62.0	61.0					3																	52556111		2202	4300	6502	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556111G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6330G>A	3.37:g.52556111G>A							p.Q2110Q	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	59	6406	+			2110			EGF-like 15.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.6330G>A	CCDS33768.1																																																																																				0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		15	17	0	0	0	1	0	15	17				
MPL	4352	broad.mit.edu	37	1	43804304	43804304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804304C>T	ENST00000372470.3	+	3	346	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MPL_ENST00000413998.2_Missense_Mutation_p.R102C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	102					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	GGAGGAAGTGCGTCTCTTCTT	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	ENST00000372470.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	GRCh37	CM055993	MPL	M		c.(304-306)Cgt>Tgt		myeloproliferative leukemia virus oncogene							131.0	113.0	119.0					1																	43804304		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804304C>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.304C>T	1.37:g.43804304C>T	ENSP00000361548:p.Arg102Cys					MPL_ENST00000413998.2_Missense_Mutation_p.R102C	p.R102C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN			3	346	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	102					Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.304C>T	CCDS483.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796737	0.70567	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.68765	-0.35;-0.35	5.56	5.56	0.83823	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.572774	0.20102	N	0.099217	T	0.80428	0.4621	M	0.68317	2.08	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.994;0.998	T	0.81328	-0.0982	10	0.72032	D	0.01	-18.5661	15.015	0.71578	0.0:1.0:0.0:0.0	.	95;102;102	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	C	102	ENSP00000361548:R102C;ENSP00000414004:R102C	ENSP00000361546:R102C	R	+	1	0	MPL	43576891	0.993000	0.37304	0.912000	0.35992	0.530000	0.34684	3.967000	0.56802	2.618000	0.88619	0.557000	0.71058	CGT		0.562	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		17	41	0	0	0	1	0	17	41				
ATXN7	6314	broad.mit.edu	37	3	63973901	63973901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973901C>T	ENST00000295900.6	+	9	1812	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	ATXN7_ENST00000538065.1_Missense_Mutation_p.T421M|ATXN7_ENST00000398590.3_Missense_Mutation_p.T421M|ATXN7_ENST00000484332.1_Missense_Mutation_p.T276M|ATXN7_ENST00000487717.1_Missense_Mutation_p.T421M	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	421	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTCCTAGAACGTCACAGGAG	0.537																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1261-1263)aCg>aTg		ataxin 7							105.0	119.0	114.0					3																	63973901		1938	4130	6068	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973901C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1262C>T	3.37:g.63973901C>T	ENSP00000295900:p.Thr421Met					ATXN7_ENST00000484332.1_Missense_Mutation_p.T276M|ATXN7_ENST00000487717.1_Missense_Mutation_p.T421M|ATXN7_ENST00000538065.1_Missense_Mutation_p.T421M|ATXN7_ENST00000295900.6_Missense_Mutation_p.T421M	p.T421M	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1815	+		Prostate(884;0.0181)	421			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1262C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267520	0.59540	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.15017	2.46;2.47;2.47;2.46;2.47	5.95	5.08	0.68730	.	0.968388	0.08587	N	0.923593	T	0.19087	0.0458	L	0.51422	1.61	0.23624	N	0.997266	B;P;B	0.42123	0.212;0.771;0.098	B;B;B	0.33196	0.076;0.159;0.018	T	0.23583	-1.0184	10	0.66056	D	0.02	0.627	14.947	0.71039	0.0:0.9321:0.0:0.0679	.	276;421;421	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	M	421;421;421;421;276	ENSP00000381590:T421M;ENSP00000295900:T421M;ENSP00000420234:T421M;ENSP00000439585:T421M;ENSP00000428277:T276M	ENSP00000295900:T421M	T	+	2	0	ATXN7	63948941	0.170000	0.23016	0.126000	0.21872	0.970000	0.65996	3.052000	0.49893	1.531000	0.49152	0.655000	0.94253	ACG		0.537	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		13	119	0	0	0	1	0	13	119				
AKNAD1	254268	broad.mit.edu	37	1	109366029	109366029	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109366029C>T	ENST00000370001.3	-	13	2398	c.2130G>A	c.(2128-2130)caG>caA	p.Q710Q	AKNAD1_ENST00000369994.1_Silent_p.Q680Q|AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000357393.4_Silent_p.Q417Q|AKNAD1_ENST00000369995.3_Silent_p.Q710Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	710						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAGAATGGGGCTGGACAAAGG	0.383																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(2128-2130)caG>caA		AKNA domain containing 1							147.0	146.0	146.0					1																	109366029		2203	4300	6503	SO:0001819	synonymous_variant	254268							g.chr1:109366029C>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2130G>A	1.37:g.109366029C>T						AKNAD1_ENST00000369994.1_Silent_p.Q680Q|AKNAD1_ENST00000369995.3_Silent_p.Q710Q|AKNAD1_ENST00000357393.4_Silent_p.Q417Q	p.Q710Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			13	2398	-			710					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	c.2130G>A	CCDS791.2																																																																																				0.383	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		36	112	0	0	0	1	0	36	112				
DOLPP1	57171	broad.mit.edu	37	9	131846995	131846995	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131846995T>C	ENST00000372546.4	+	2	157	c.125T>C	c.(124-126)tTt>tCt	p.F42S	DOLPP1_ENST00000406974.3_Missense_Mutation_p.F42S|DOLPP1_ENST00000540102.1_5'UTR	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	42					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						AGCCCTGTATTTGTCATCGTC	0.582																																						ENST00000372546.4																			0				endometrium(3)|kidney(2)|lung(7)|skin(1)	13						c.(124-126)tTt>tCt		dolichyldiphosphatase 1							445.0	404.0	418.0					9																	131846995		2203	4300	6503	SO:0001583	missense	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131846995T>C	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.125T>C	9.37:g.131846995T>C	ENSP00000361625:p.Phe42Ser					DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.F42S	p.F42S	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN			2	157	+			42					A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	c.125T>C	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650272	0.47362	.	.	ENSG00000167130	ENST00000372546;ENST00000406974	T;T	0.75154	-0.91;-0.91	5.53	5.53	0.82687	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.098581	0.64402	D	0.000001	T	0.67449	0.2894	L	0.46157	1.445	0.80722	D	1	B;B	0.24368	0.102;0.048	B;B	0.17433	0.018;0.012	T	0.63346	-0.6658	10	0.28530	T	0.3	-18.7014	14.4839	0.67603	0.0:0.0:0.0:1.0	.	42;42	B0QZG4;Q86YN1	.;DOPP1_HUMAN	S	42	ENSP00000361625:F42S;ENSP00000384043:F42S	ENSP00000361625:F42S	F	+	2	0	DOLPP1	130886816	1.000000	0.71417	0.598000	0.28837	0.971000	0.66376	4.159000	0.58157	2.099000	0.63709	0.459000	0.35465	TTT		0.582	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		9	463	0	0	0	1	0	9	463				
MED16	10025	broad.mit.edu	37	19	885908	885908	+	Silent	SNP	G	G	A	rs116674441	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:885908G>A	ENST00000589119.1	-	4	740	c.741C>T	c.(739-741)agC>agT	p.S247S	MED16_ENST00000312090.6_Silent_p.S247S|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.S247S|MED16_ENST00000269814.4_Silent_p.S247S|MED16_ENST00000325464.1_Silent_p.S247S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	247					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCACCACGCTCACGCACA	0.652													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		14994	0.0		0.0	False		,,,				2504	0.0					ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(739-741)agC>agT		mediator complex subunit 16		G		63,4343	58.7+/-95.3	1,61,2141	122.0	101.0	108.0		741	-1.5	1.0	19	dbSNP_132	108	0,8600		0,0,4300	no	coding-synonymous	MED16	NM_005481.2		1,61,6441	AA,AG,GG		0.0,1.4299,0.4844		247/878	885908	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:885908G>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.741C>T	19.37:g.885908G>A						MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.S247S|MED16_ENST00000589119.1_Silent_p.S247S|MED16_ENST00000395808.3_Silent_p.S247S|MED16_ENST00000325464.1_Silent_p.S247S	p.S247S			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	891	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	247					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.741C>T	CCDS12047.1																																																																																				0.652	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		22	37	0	0	0	1	0	22	37				
GPATCH2L	55668	broad.mit.edu	37	14	76621011	76621011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76621011C>T	ENST00000261530.7	+	2	371	c.305C>T	c.(304-306)gCc>gTc	p.A102V	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.A102V|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.A102V|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.A102V	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	102																	GCTCTCAATGCCATTGTCAAG	0.502																																						ENST00000261530.7																			0											c.(304-306)gCc>gTc		G patch domain containing 2-like							108.0	89.0	95.0					14																	76621011		2203	4300	6503	SO:0001583	missense	55668							g.chr14:76621011C>T	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.305C>T	14.37:g.76621011C>T	ENSP00000261530:p.Ala102Val					GPATCH2L_ENST00000557263.1_Missense_Mutation_p.A102V|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.A102V|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.A102V	p.A102V	NM_017926.2	NP_060396.2					2	371	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.305C>T	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431508	0.25813	.	.	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.47528	0.86;0.84;0.85;0.86	5.42	4.53	0.55603	.	0.515616	0.19490	N	0.113006	T	0.29817	0.0745	N	0.19112	0.55	0.80722	D	1	B;B;B	0.26845	0.0;0.042;0.161	B;B;B	0.23852	0.001;0.046;0.049	T	0.06445	-1.0826	10	0.16896	T	0.51	-0.787	10.2743	0.43501	0.0:0.8493:0.0:0.1507	.	102;102;102	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	V	102	ENSP00000451587:A102V;ENSP00000323775:A102V;ENSP00000261530:A102V;ENSP00000450657:A102V	ENSP00000261530:A102V	A	+	2	0	C14orf118	75690764	0.952000	0.32445	0.899000	0.35326	0.987000	0.75469	2.794000	0.47853	1.283000	0.44513	0.655000	0.94253	GCC		0.502	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		30	36	0	0	0	1	0	30	36				
MYO5A	4644	broad.mit.edu	37	15	52605916	52605916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52605916G>A	ENST00000399231.3	-	41	5788	c.5545C>T	c.(5545-5547)Ctg>Ttg	p.L1849L	MYO5A_ENST00000399233.2_Silent_p.L1846L|MYO5A_ENST00000356338.6_Silent_p.L1822L|MYO5A_ENST00000553916.1_Silent_p.L1847L|MYO5A_ENST00000358212.6_Silent_p.L1874L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1849					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATGAAGCCCAGGCCGAGGCTG	0.463																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5545-5547)Ctg>Ttg		myosin VA (heavy chain 12, myoxin)							96.0	96.0	96.0					15																	52605916		1860	4106	5966	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52605916G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5545C>T	15.37:g.52605916G>A						MYO5A_ENST00000553916.1_Silent_p.L1847L|MYO5A_ENST00000358212.6_Silent_p.L1874L|MYO5A_ENST00000356338.6_Silent_p.L1822L|MYO5A_ENST00000399233.2_Silent_p.L1846L	p.L1849L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	41	5788	-			1849					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.5545C>T	CCDS42037.1																																																																																				0.463	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		5	47	0	0	0	1	0	5	47				
SULT1A2	6799	broad.mit.edu	37	16	28604833	28604833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28604833G>A	ENST00000395630.1	-	5	779	c.429C>T	c.(427-429)taC>taT	p.Y143Y	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Silent_p.Y143Y	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	143					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGGCCATGTGGTAGAAGTGGT	0.567																																						ENST00000395630.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(427-429)taC>taT		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							158.0	146.0	150.0					16																	28604833		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28604833G>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.429C>T	16.37:g.28604833G>A						SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Silent_p.Y143Y	p.Y143Y	NM_177528.2	NP_803564.1	P50226	ST1A2_HUMAN			5	779	-			143					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.429C>T	CCDS10636.1																																																																																				0.567	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		21	44	0	0	0	1	0	21	44				
STAU2	27067	broad.mit.edu	37	8	74650573	74650573	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs375973716		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74650573C>T	ENST00000521419.1	-	0	117				STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_De_novo_Start_OutOfFrame|STAU2_ENST00000524104.1_De_novo_Start_OutOfFrame|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000355780.5_De_novo_Start_OutOfFrame|STAU2_ENST00000519961.1_De_novo_Start_InFrame|STAU2_ENST00000521210.1_De_novo_Start_InFrame|STAU2_ENST00000524300.1_De_novo_Start_InFrame|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000522695.1_5'Flank|STAU2_ENST00000517542.1_Intron			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTATCCCTCACGGCTCCAAAA	0.363																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19								staufen double-stranded RNA binding protein 2							105.0	91.0	96.0					8																	74650573		2203	4300	6503			27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74650573C>T	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.-190G>A	8.37:g.74650573C>T						STAU2_ENST00000521419.1_De_novo_Start_OutOfFrame|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522509.1_De_novo_Start_OutOfFrame|STAU2_ENST00000522962.1_5'UTR|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000524300.1_De_novo_Start_InFrame|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000521210.1_De_novo_Start_InFrame|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_De_novo_Start_InFrame|STAU2_ENST00000524104.1_De_novo_Start_OutOfFrame		NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		0	182	-	Breast(64;0.0138)							B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Translation_Start_Site	SNP	ENST00000521419.1	37																																																																																						0.363	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379012.2	NM_001164380		15	31	0	0	0	1	0	15	31				
U2AF1	7307	broad.mit.edu	37	21	44513286	44513286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513286C>T	ENST00000291552.4	-	8	741	c.649G>A	c.(649-651)Ggt>Agt	p.G217S	U2AF1_ENST00000459639.1_Missense_Mutation_p.G144S|U2AF1_ENST00000398137.1_Missense_Mutation_p.G144S|U2AF1_ENST00000380276.2_Missense_Mutation_p.G217S|U2AF1_ENST00000486519.1_5'Flank	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	217	Arg/Gly/Ser-rich (RS domain).|Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cctccaccaccgccaccgcca	0.577			Mis		"""CLL, MDS"""																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(430-432)Ggt>Agt		U2 small nuclear RNA auxiliary factor 1							27.0	32.0	31.0					21																	44513286		2203	4296	6499	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44513286C>T	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.649G>A	21.37:g.44513286C>T	ENSP00000291552:p.Gly217Ser					U2AF1_ENST00000398137.1_Missense_Mutation_p.G144S|U2AF1_ENST00000380276.2_Missense_Mutation_p.G217S|U2AF1_ENST00000291552.4_Missense_Mutation_p.G217S	p.G144S			Q01081	U2AF1_HUMAN			7	1454	-			217			RRM.		Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.430G>A	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610651	0.46527	.	.	ENSG00000160201	ENST00000459639;ENST00000380276;ENST00000291552;ENST00000398137	D;D	0.95554	-3.74;-3.74	4.81	4.81	0.61882	.	0.066735	0.64402	D	0.000019	D	0.94618	0.8265	N	0.20685	0.6	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.70716	0.97;0.97	D	0.91546	0.5253	10	0.08179	T	0.78	-15.9415	18.2435	0.89977	0.0:1.0:0.0:0.0	.	217;217	Q01081;Q701P4	U2AF1_HUMAN;.	S	144;217;217;144	ENSP00000418705:G144S;ENSP00000381205:G144S	ENSP00000291552:G217S	G	-	1	0	U2AF1	43386355	0.961000	0.32948	0.392000	0.26245	0.067000	0.16453	4.636000	0.61339	2.371000	0.80710	0.563000	0.77884	GGT		0.577	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		3	24	0	0	0	1	0	3	24				
PRPF40B	25766	broad.mit.edu	37	12	50027216	50027216	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027216C>A	ENST00000380281.1	+	7	464	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	PRPF40B_ENST00000261897.1_Missense_Mutation_p.L128M|PRPF40B_ENST00000548825.2_Missense_Mutation_p.L156M			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	134	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCAGCTGCTCCTGTCCCAATG	0.542																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(382-384)Ctg>Atg		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							170.0	180.0	177.0					12																	50027216		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027216C>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.400C>A	12.37:g.50027216C>A	ENSP00000369634:p.Leu134Met					PRPF40B_ENST00000380281.1_Missense_Mutation_p.L134M|PRPF40B_ENST00000548825.2_Missense_Mutation_p.L156M	p.L128M			Q6NWY9	PR40B_HUMAN			7	933	+			134					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.382C>A		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136792	0.37728	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.31769	1.51;1.49;1.48	4.54	3.63	0.41609	WW/Rsp5/WWP (1);	0.121611	0.34879	N	0.003613	T	0.40956	0.1138	M	0.79926	2.475	0.39824	D	0.972884	P;P;B	0.39250	0.535;0.665;0.354	B;B;B	0.42214	0.211;0.38;0.38	T	0.49790	-0.8902	9	.	.	.	-7.9588	14.3363	0.66592	0.0:0.8496:0.1504:0.0	.	134;128;134	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	M	156;128;134	ENSP00000448073:L156M;ENSP00000261897:L128M;ENSP00000369634:L134M	.	L	+	1	2	PRPF40B	48313483	0.995000	0.38212	1.000000	0.80357	0.793000	0.44817	0.403000	0.20982	1.476000	0.48215	0.655000	0.94253	CTG		0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		25	266	1	0	9.39395e-14	1	1.19386e-13	25	266				
GCA	25801	broad.mit.edu	37	2	163215567	163215567	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163215567T>C	ENST00000437150.2	+	6	629	c.468T>C	c.(466-468)agT>agC	p.S156S	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Silent_p.S137S	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	156	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATAGGTTGAGTCCTCAAACAT	0.303																																						ENST00000437150.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						c.(466-468)agT>agC		grancalcin, EF-hand calcium binding protein							109.0	112.0	111.0					2																	163215567		2203	4300	6503	SO:0001819	synonymous_variant	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163215567T>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.468T>C	2.37:g.163215567T>C						GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Silent_p.S137S	p.S156S	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN			6	629	+			156			EF-hand 4.		B2R5X3|Q53TB5|Q59EP3	Silent	SNP	ENST00000437150.2	37	c.468T>C	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	T	8.510	0.866363	0.17250	.	.	ENSG00000115271	ENST00000414723	.	.	.	5.41	3.04	0.35103	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50524	-0.8818	4	.	.	.	.	8.1463	0.31113	0.0:0.2357:0.0:0.7643	.	.	.	.	A	69	.	.	V	+	2	0	GCA	162923813	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.842000	0.27627	0.446000	0.26666	0.528000	0.53228	GTC		0.303	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		39	70	0	0	0	1	0	39	70				
MRGPRX3	117195	broad.mit.edu	37	11	18158969	18158969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158969C>A	ENST00000396275.2	+	3	581	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCCGACTTCCTCTTCCTTAG	0.562																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(220-222)Ctc>Atc		MAS-related GPR, member X3							95.0	91.0	92.0					11																	18158969		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158969C>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.220C>A	11.37:g.18158969C>A	ENSP00000379571:p.Leu74Ile						p.L74I	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	581	+			74					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.220C>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288274	0.40494	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.16897	2.31;2.31	1.46	0.326	0.15908	GPCR, rhodopsin-like superfamily (1);	0.659654	0.14314	N	0.327470	T	0.28499	0.0705	L	0.60012	1.86	0.21933	N	0.999465	D	0.59357	0.985	D	0.70016	0.967	T	0.08659	-1.0711	10	0.45353	T	0.12	.	3.3666	0.07206	0.2926:0.417:0.2904:0.0	.	74	Q96LB0	MRGX3_HUMAN	I	74	ENSP00000379571:L74I;ENSP00000436242:L74I	ENSP00000379571:L74I	L	+	1	0	MRGPRX3	18115545	0.988000	0.35896	0.029000	0.17559	0.023000	0.10783	3.495000	0.53280	0.099000	0.17552	0.430000	0.28490	CTC		0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		38	42	1	0	1.60099e-16	1	2.06663e-16	38	42				
RINT1	60561	broad.mit.edu	37	7	105177032	105177032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105177032C>T	ENST00000257700.2	+	3	340	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	37					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTACAGTTCTTATTGGAAG	0.323																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(109-111)Ctt>Ttt		RAD50 interactor 1							175.0	181.0	179.0					7																	105177032		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177032C>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.109C>T	7.37:g.105177032C>T	ENSP00000257700:p.Leu37Phe						p.L37F	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			3	340	+			37					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.109C>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.755976	0.15846	.	.	ENSG00000135249	ENST00000257700	T	0.25085	1.82	5.33	3.52	0.40303	.	0.260319	0.27482	N	0.019178	T	0.19725	0.0474	L	0.43152	1.355	0.09310	N	1	B	0.34103	0.437	B	0.29942	0.109	T	0.09314	-1.0680	10	0.37606	T	0.19	-1.3135	10.1392	0.42725	0.0:0.6711:0.2567:0.0723	.	37	Q6NUQ1	RINT1_HUMAN	F	37	ENSP00000257700:L37F	ENSP00000257700:L37F	L	+	1	0	RINT1	104964268	0.006000	0.16342	0.003000	0.11579	0.061000	0.15899	0.598000	0.24074	0.616000	0.30141	0.591000	0.81541	CTT		0.323	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		57	127	0	0	0	1	0	57	127				
PIWIL2	55124	broad.mit.edu	37	8	22211839	22211839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22211839C>T	ENST00000454009.2	+	22	3222	c.2713C>T	c.(2713-2715)Cat>Tat	p.H905Y	PIWIL2_ENST00000356766.6_Missense_Mutation_p.H905Y|PIWIL2_ENST00000521356.1_Intron	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	905	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CATTCCTACGCATTATGTCTG	0.458																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2713-2715)Cat>Tat		piwi-like RNA-mediated gene silencing 2							200.0	162.0	175.0					8																	22211839		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22211839C>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2713C>T	8.37:g.22211839C>T	ENSP00000406956:p.His905Tyr					PIWIL2_ENST00000454009.2_Missense_Mutation_p.H905Y|PIWIL2_ENST00000521356.1_Intron	p.H905Y	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	22	2861	+			905			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2713C>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177313	0.78564	.	.	ENSG00000197181	ENST00000356766;ENST00000454009	T;T	0.32988	1.43;1.43	4.53	4.53	0.55603	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.048932	0.85682	D	0.000000	T	0.44767	0.1309	M	0.74467	2.265	0.80722	D	1	P	0.38148	0.62	P	0.45232	0.474	T	0.50915	-0.8771	10	0.59425	D	0.04	-11.7705	16.3999	0.83637	0.0:1.0:0.0:0.0	.	905	Q8TC59	PIWL2_HUMAN	Y	905	ENSP00000349208:H905Y;ENSP00000406956:H905Y	ENSP00000349208:H905Y	H	+	1	0	PIWIL2	22267784	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.839000	0.69395	2.242000	0.73789	0.561000	0.74099	CAT		0.458	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			6	53	0	0	0	1	0	6	53				
TNS1	7145	broad.mit.edu	37	2	218755688	218755688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218755688C>A	ENST00000171887.4	-	10	940	c.488G>T	c.(487-489)aGa>aTa	p.R163I	TNS1_ENST00000430930.1_Missense_Mutation_p.R163I|TNS1_ENST00000419504.1_Missense_Mutation_p.R163I|TNS1_ENST00000310858.6_Missense_Mutation_p.R194I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	163	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACCCACCTTCTTTGGGATGG	0.557																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(487-489)aGa>aTa		tensin 1							120.0	102.0	108.0					2																	218755688		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218755688C>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.488G>T	2.37:g.218755688C>A	ENSP00000171887:p.Arg163Ile					TNS1_ENST00000419504.1_Missense_Mutation_p.R163I|TNS1_ENST00000430930.1_Missense_Mutation_p.R163I|TNS1_ENST00000310858.6_Missense_Mutation_p.R194I	p.R163I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	10	940	-		Renal(207;0.0483)|Lung NSC(271;0.213)	163			Phosphatase tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.488G>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744734	0.49151	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	5.4	4.4	0.53042	Phosphatase tensin type (1);	0.051801	0.85682	D	0.000000	D	0.95069	0.8403	L	0.31157	0.91	0.58432	D	0.999999	P;B;B;B;P;P	0.46395	0.877;0.006;0.437;0.027;0.877;0.877	P;B;B;B;B;P	0.45037	0.467;0.011;0.303;0.014;0.276;0.467	D	0.93026	0.6444	10	0.87932	D	0	.	3.7361	0.08511	0.0:0.6524:0.0:0.3475	.	163;217;194;163;163;163	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	I	163;163;163;288;231;194	ENSP00000171887:R163I;ENSP00000408724:R163I;ENSP00000406016:R163I;ENSP00000405460:R288I;ENSP00000400383:R231I;ENSP00000308321:R194I	ENSP00000171887:R163I	R	-	2	0	TNS1	218463933	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.390000	0.52523	2.522000	0.85027	0.467000	0.42956	AGA		0.557	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		8	43	1	0	0.00307968	1	0.00325696	8	43				
CCDC130	81576	broad.mit.edu	37	19	13865139	13865139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13865139G>T	ENST00000586600.1	+	4	543	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	CCDC130_ENST00000221554.8_Missense_Mutation_p.D14Y			P13994	CC130_HUMAN	coiled-coil domain containing 130	14					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTATCCTCCAGACTTCAACCC	0.532																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(40-42)Gac>Tac		coiled-coil domain containing 130							116.0	93.0	101.0					19																	13865139		2203	4300	6503	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13865139G>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.40G>T	19.37:g.13865139G>T	ENSP00000465776:p.Asp14Tyr					CCDC130_ENST00000221554.8_Missense_Mutation_p.D14Y	p.D14Y			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		4	543	+			14					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.40G>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508351	0.64410	.	.	ENSG00000104957	ENST00000540216;ENST00000221554	T	0.59364	0.27	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.86920	0.2066	10	0.87932	D	0	-12.9675	13.8781	0.63665	0.0:0.0:1.0:0.0	.	14;14	B7Z1U2;P13994	.;CC130_HUMAN	Y	14	ENSP00000221554:D14Y	ENSP00000221554:D14Y	D	+	1	0	CCDC130	13726139	1.000000	0.71417	0.711000	0.30485	0.782000	0.44232	8.216000	0.89764	2.124000	0.65301	0.462000	0.41574	GAC		0.532	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		7	54	1	0	1.12685e-05	1	1.27857e-05	7	54				
AHCTF1	25909	broad.mit.edu	37	1	247013360	247013360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247013360G>T	ENST00000391829.2	-	33	6071	c.5948C>A	c.(5947-5949)tCt>tAt	p.S1983Y	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S2018Y|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1992Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1983	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACATCTTCAGATGGATTGAT	0.418																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6052-6054)tCt>tAt		AT hook containing transcription factor 1							69.0	70.0	70.0					1																	247013360		2203	4297	6500	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013360G>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5948C>A	1.37:g.247013360G>T	ENSP00000375705:p.Ser1983Tyr					AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1983Y|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1992Y	p.S2018Y			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6189	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1983			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6053C>A		.	.	.	.	.	.	.	.	.	.	G	6.606	0.480160	0.12581	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34472	1.36;1.36;1.36	5.51	2.58	0.30949	AT hook, DNA-binding motif (1);	0.565127	0.17187	N	0.183646	T	0.44623	0.1302	L	0.47716	1.5	0.09310	N	1	D;P;P	0.63880	0.993;0.904;0.924	P;P;B	0.58873	0.847;0.542;0.259	T	0.19844	-1.0293	10	0.59425	D	0.04	-2.7416	9.0579	0.36416	0.2983:0.0:0.7017:0.0	.	844;2018;1983	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	Y	2018;1992;1983	ENSP00000355464:S2018Y;ENSP00000355465:S1992Y;ENSP00000375705:S1983Y	ENSP00000355465:S1992Y	S	-	2	0	AHCTF1	245079983	0.004000	0.15560	0.001000	0.08648	0.018000	0.09664	1.540000	0.36115	0.680000	0.31366	0.655000	0.94253	TCT		0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		63	66	1	0	1.40369e-38	1	1.89216e-38	63	66				
OR5W2	390148	broad.mit.edu	37	11	55681569	55681569	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55681569A>C	ENST00000344514.1	-	1	489	c.490T>G	c.(490-492)Ttc>Gtc	p.F164V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATAGGCGGAAGGCCAGTGTC	0.433																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(490-492)Ttc>Gtc		olfactory receptor, family 5, subfamily W, member 2							87.0	77.0	80.0					11																	55681569		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681569A>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.490T>G	11.37:g.55681569A>C	ENSP00000342448:p.Phe164Val						p.F164V	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	489	-			164						Missense_Mutation	SNP	ENST00000344514.1	37	c.490T>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849164	0.32699	.	.	ENSG00000187612	ENST00000344514	T	0.00231	8.49	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000734	T	0.00440	0.0014	M	0.77712	2.385	0.30820	N	0.737915	P	0.34522	0.455	P	0.49477	0.612	T	0.01256	-1.1404	10	0.59425	D	0.04	.	12.2509	0.54597	1.0:0.0:0.0:0.0	.	164	Q8NH69	OR5W2_HUMAN	V	164	ENSP00000342448:F164V	ENSP00000342448:F164V	F	-	1	0	OR5W2	55438145	0.000000	0.05858	0.052000	0.19188	0.020000	0.10135	0.113000	0.15499	1.781000	0.52344	0.448000	0.29417	TTC		0.433	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		12	89	0	0	0	1	0	12	89				
ACO2	50	broad.mit.edu	37	22	41923906	41923906	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41923906G>T	ENST00000216254.4	+	17	2110	c.2088G>T	c.(2086-2088)gaG>gaT	p.E696D	ACO2_ENST00000396512.3_Splice_Site_p.E721D|POLR3H_ENST00000396504.2_3'UTR|POLR3H_ENST00000355209.4_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	696					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCTTTCCAGAGACCAACCTGA	0.572																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.e17-1		aconitase 2, mitochondrial							94.0	93.0	93.0					22																	41923906		2203	4300	6503	SO:0001630	splice_region_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41923906G>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.2087-1G>T	22.37:g.41923906G>T						POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000216254.4_Splice_Site_p.E696_splice|POLR3H_ENST00000396504.2_3'UTR	p.E721_splice			Q99798	ACON_HUMAN			17	2180	+			696					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Splice_Site	SNP	ENST00000216254.4	37	c.2161_splice	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.270541	0.80469	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.44083	0.93;0.93	4.79	3.76	0.43208	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.049710	0.85682	D	0.000000	T	0.68888	0.3050	H	0.96943	3.91	0.80722	D	1	P;P	0.50443	0.935;0.723	P;P	0.56474	0.799;0.758	T	0.76332	-0.2998	10	0.87932	D	0	.	9.9558	0.41666	0.9181:0.0:0.0819:0.0	.	721;696	A2A274;Q99798	.;ACON_HUMAN	D	417;677;696;721	ENSP00000216254:E696D;ENSP00000379769:E721D	ENSP00000216254:E696D	E	+	3	2	ACO2	40253852	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.520000	0.60524	0.986000	0.38683	-0.376000	0.06991	GAG		0.572	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098	Missense_Mutation	8	99	1	0	1.12685e-05	1	1.27857e-05	8	99				
TMEM132B	114795	broad.mit.edu	37	12	126128633	126128633	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126128633C>T	ENST00000299308.3	+	6	1442	c.1434C>T	c.(1432-1434)aaC>aaT	p.N478N	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	478						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTCCAACAACTGTGATTCCA	0.448																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1432-1434)aaC>aaT		transmembrane protein 132B							87.0	83.0	84.0					12																	126128633		1963	4157	6120	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126128633C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1434C>T	12.37:g.126128633C>T						TMEM132B_ENST00000535886.1_5'UTR	p.N478N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1442	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		478					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.1434C>T	CCDS41859.1																																																																																				0.448	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		7	24	0	0	0	1	0	7	24				
CD7	924	broad.mit.edu	37	17	80274543	80274543	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80274543C>A	ENST00000312648.3	-	2	503	c.397G>T	c.(397-399)Gag>Tag	p.E133*	CD7_ENST00000584284.1_Splice_Site_p.E133*|CD7_ENST00000583376.1_Splice_Site_p.E33*|CD7_ENST00000578509.1_Splice_Site_p.E33*	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	133					homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CATTCCCTACCTGTCACCAGG	0.657																																					Pancreas(45;804 1068 19702 28207 28798)	ENST00000584284.1																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.e2+1		CD7 molecule							69.0	68.0	68.0					17																	80274543		2203	4300	6503	SO:0001630	splice_region_variant	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274543C>A	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.397+1G>T	17.37:g.80274543C>A						CD7_ENST00000583376.1_Splice_Site_p.E33_splice|CD7_ENST00000312648.3_Splice_Site_p.E133_splice|CD7_ENST00000578509.1_Splice_Site_p.E33_splice	p.E133_splice			P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		2	478	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		133						Splice_Site	SNP	ENST00000312648.3	37	c.397_splice	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896393	0.52121	.	.	ENSG00000173762	ENST00000312648	.	.	.	3.14	3.14	0.36123	.	1.661780	0.03630	N	0.237783	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7055	10.0689	0.42322	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	.	E	-	1	0	CD7	77867832	1.000000	0.71417	0.999000	0.59377	0.169000	0.22640	3.733000	0.55029	2.087000	0.62958	0.306000	0.20318	GAG		0.657	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137	Nonsense_Mutation	10	75	1	0	3.86212e-05	1	4.30401e-05	10	75				
ITSN1	6453	broad.mit.edu	37	21	35140087	35140087	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35140087C>T	ENST00000381318.3	+	11	1285	c.997C>T	c.(997-999)Cca>Tca	p.P333S	ITSN1_ENST00000399353.1_Missense_Mutation_p.P296S|ITSN1_ENST00000399338.4_Missense_Mutation_p.P333S|ITSN1_ENST00000399349.1_Missense_Mutation_p.P333S|ITSN1_ENST00000399367.3_Missense_Mutation_p.P333S|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000379960.5_Missense_Mutation_p.P333S|ITSN1_ENST00000381291.4_Missense_Mutation_p.P333S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.P333S|ITSN1_ENST00000399355.2_Missense_Mutation_p.P333S|ITSN1_ENST00000381285.4_Missense_Mutation_p.P333S|ITSN1_ENST00000399326.3_Missense_Mutation_p.P333S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P333S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	333	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACCAGAGGAACCAGTTTTAGA	0.358																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(997-999)Cca>Tca		intersectin 1 (SH3 domain protein)							81.0	78.0	79.0					21																	35140087		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35140087C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.997C>T	21.37:g.35140087C>T	ENSP00000370719:p.Pro333Ser					ITSN1_ENST00000381285.4_Missense_Mutation_p.P333S|ITSN1_ENST00000399355.2_Missense_Mutation_p.P333S|ITSN1_ENST00000399349.1_Missense_Mutation_p.P333S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P296S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P333S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P333S|ITSN1_ENST00000399326.3_Missense_Mutation_p.P333S|ITSN1_ENST00000399338.4_Missense_Mutation_p.P333S|ITSN1_ENST00000379960.5_Missense_Mutation_p.P333S|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.P333S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P333S	p.P333S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			11	1285	+			333			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.997C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843177	0.71488	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	1.66;0.81;0.87;0.81;1.66;1.66;0.85;1.66;1.46;1.66;1.66;1.66;1.66	5.71	5.71	0.89125	.	0.114093	0.64402	D	0.000016	T	0.65606	0.2707	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.67145	0.993;0.993;0.993;0.993;0.996;0.993;0.993;0.993;0.996;0.993	D;D;D;D;D;P;D;D;D;D	0.78314	0.979;0.979;0.979;0.968;0.991;0.787;0.968;0.968;0.991;0.979	T	0.59129	-0.7512	10	0.32370	T	0.25	.	19.854	0.96750	0.0:1.0:0.0:0.0	.	296;296;296;333;333;333;333;333;333;296	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	S	296;333;333;333;333;333;333;333;333;333;273;333;333;333;333	ENSP00000382290:P296S;ENSP00000370719:P333S;ENSP00000370691:P333S;ENSP00000370685:P333S;ENSP00000382301:P333S;ENSP00000382289:P333S;ENSP00000382292:P333S;ENSP00000382286:P333S;ENSP00000370683:P273S;ENSP00000382275:P333S;ENSP00000387377:P333S;ENSP00000382265:P333S;ENSP00000369294:P333S	ENSP00000369294:P333S	P	+	1	0	ITSN1	34061957	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.289000	0.59013	2.699000	0.92147	0.462000	0.41574	CCA		0.358	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		4	65	0	0	0	1	0	4	65				
ARID1B	57492	broad.mit.edu	37	6	157502125	157502125	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502125C>T	ENST00000350026.5	+	11	3120	c.3119C>T	c.(3118-3120)aCt>aTt	p.T1040I	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.T1035I|ARID1B_ENST00000367148.1_Missense_Mutation_p.T1093I|ARID1B_ENST00000346085.5_Missense_Mutation_p.T1053I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1040					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCACCACTACTGGGGAGAAG	0.547																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3157-3159)aCt>aTt		AT rich interactive domain 1B (SWI1-like)							62.0	51.0	55.0					6																	157502125		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502125C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3119C>T	6.37:g.157502125C>T	ENSP00000055163:p.Thr1040Ile					ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.T1040I|ARID1B_ENST00000275248.4_Missense_Mutation_p.T1035I|ARID1B_ENST00000367148.1_Missense_Mutation_p.T1093I	p.T1053I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3159	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1040			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3158C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408281	0.83340	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.76	5.76	0.90799	ARID/BRIGHT DNA-binding domain (2);	0.049348	0.85682	D	0.000000	T	0.58779	0.2146	L	0.61218	1.895	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.979;0.991;0.991	T	0.60281	-0.7294	10	0.87932	D	0	.	19.9719	0.97287	0.0:1.0:0.0:0.0	.	290;1040;1053;1035	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	I	1053;1040;1093;1035;510;562;515;107	ENSP00000344546:T1053I;ENSP00000055163:T1040I;ENSP00000356116:T1093I;ENSP00000275248:T1035I;ENSP00000412835:T562I;ENSP00000313006:T515I;ENSP00000383596:T107I	ENSP00000275248:T1035I	T	+	2	0	ARID1B	157543817	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	6.056000	0.71111	2.718000	0.92993	0.650000	0.86243	ACT		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		7	17	0	0	0	1	0	7	17				
SV2B	9899	broad.mit.edu	37	15	91801681	91801681	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91801681A>C	ENST00000394232.1	+	5	1285	c.815A>C	c.(814-816)cAc>cCc	p.H272P	SV2B_ENST00000545111.2_Missense_Mutation_p.H121P|SV2B_ENST00000330276.4_Missense_Mutation_p.H272P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	272					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACCAATTACCACTTCCATAGC	0.522																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(814-816)cAc>cCc		synaptic vesicle glycoprotein 2B							174.0	130.0	145.0					15																	91801681		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91801681A>C	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.815A>C	15.37:g.91801681A>C	ENSP00000377779:p.His272Pro					SV2B_ENST00000545111.2_Missense_Mutation_p.H121P|SV2B_ENST00000330276.4_Missense_Mutation_p.H272P	p.H272P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		5	1285	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		272					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.815A>C	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.813853	0.70912	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.61742	0.08;0.08;0.08	5.59	5.59	0.84812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046416	0.85682	D	0.000000	T	0.53562	0.1804	L	0.44542	1.39	0.58432	D	0.999999	P	0.36660	0.564	B	0.40602	0.334	T	0.51268	-0.8727	10	0.29301	T	0.29	-10.2877	14.5754	0.68243	1.0:0.0:0.0:0.0	.	272	Q7L1I2	SV2B_HUMAN	P	121;272;272	ENSP00000443243:H121P;ENSP00000377779:H272P;ENSP00000332818:H272P	ENSP00000332818:H272P	H	+	2	0	SV2B	89602685	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.983000	0.93477	2.112000	0.64535	0.533000	0.62120	CAC		0.522	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		8	53	0	0	0	1	0	8	53				
OR52E6	390078	broad.mit.edu	37	11	5862816	5862816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5862816G>T	ENST00000329322.5	-	1	311	c.312C>A	c.(310-312)ttC>ttA	p.F104L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F108L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGATGAAGAACATCTGAG	0.458																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(310-312)ttC>ttA		olfactory receptor, family 52, subfamily E, member 6							160.0	154.0	156.0					11																	5862816		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862816G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.312C>A	11.37:g.5862816G>T	ENSP00000328878:p.Phe104Leu					TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F108L	p.F104L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	311	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	104					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.312C>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446480	0.63178	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.05382	3.45;3.45	3.55	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.25457	0.0619	M	0.86864	2.845	0.32226	N	0.574593	D	0.89917	1.0	D	0.87578	0.998	T	0.32640	-0.9899	10	0.87932	D	0	.	9.4152	0.38517	0.1087:0.0:0.8913:0.0	.	104	Q96RD3	O52E6_HUMAN	L	104;108	ENSP00000328878:F104L;ENSP00000369279:F108L	ENSP00000328878:F104L	F	-	3	2	OR52E6	5819392	0.870000	0.30015	0.992000	0.48379	0.927000	0.56198	0.247000	0.18179	0.693000	0.31634	0.551000	0.68910	TTC		0.458	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		10	190	1	0	0.000442599	1	0.00048047	10	190				
BAIAP2L1	55971	broad.mit.edu	37	7	97949586	97949586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97949586C>T	ENST00000005260.8	-	4	454	c.239G>A	c.(238-240)aGt>aAt	p.S80N	RP11-307C18.1_ENST00000610062.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	80	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGTGGGTACTTGAAATCTC	0.363																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(238-240)aGt>aAt		BAI1-associated protein 2-like 1							92.0	88.0	89.0					7																	97949586		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97949586C>T	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.239G>A	7.37:g.97949586C>T	ENSP00000005260:p.Ser80Asn					BAIAP2L1_ENST00000462558.1_5'UTR	p.S80N	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	454	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		80			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.239G>A	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695214	0.30052	.	.	ENSG00000006453	ENST00000005260	T	0.22336	1.96	5.62	0.545	0.17190	IRSp53/MIM homology domain (IMD) (3);	0.380288	0.36167	N	0.002755	T	0.06645	0.0170	N	0.02960	-0.455	0.18873	N	0.999981	B	0.02656	0.0	B	0.09377	0.004	T	0.29027	-1.0025	10	0.30078	T	0.28	-5.1498	4.5539	0.12128	0.1492:0.4328:0.0:0.418	.	80	Q9UHR4	BI2L1_HUMAN	N	80	ENSP00000005260:S80N	ENSP00000005260:S80N	S	-	2	0	AC093799.1	97787522	0.191000	0.23288	0.297000	0.24988	0.925000	0.55904	0.061000	0.14366	0.487000	0.27698	0.655000	0.94253	AGT		0.363	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		28	20	0	0	0	1	0	28	20				
SCAF4	57466	broad.mit.edu	37	21	33073349	33073349	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33073349C>A	ENST00000286835.7	-	7	1118	c.736G>T	c.(736-738)Gct>Tct	p.A246S	SCAF4_ENST00000399804.1_Missense_Mutation_p.A246S|SCAF4_ENST00000434667.3_Missense_Mutation_p.A231S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	246						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGAAAGCAGCTTTTTGTTCA	0.438																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(736-738)Gct>Tct		SR-related CTD-associated factor 4							142.0	143.0	143.0					21																	33073349		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33073349C>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.736G>T	21.37:g.33073349C>A	ENSP00000286835:p.Ala246Ser					SCAF4_ENST00000399804.1_Missense_Mutation_p.A246S|SCAF4_ENST00000434667.3_Missense_Mutation_p.A231S	p.A246S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			7	1118	-			246					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.736G>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186849	0.21870	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.45276	0.91;0.9;0.9	5.7	4.82	0.62117	.	0.184155	0.38111	N	0.001804	T	0.24160	0.0585	N	0.22421	0.69	0.26351	N	0.977209	B;B;B;B	0.33171	0.278;0.104;0.4;0.278	B;B;B;B	0.33960	0.084;0.058;0.173;0.084	T	0.17561	-1.0365	10	0.09084	T	0.74	-18.9286	7.4083	0.27004	0.0:0.717:0.1384:0.1445	.	231;246;246;246	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	231;246;246	ENSP00000402377:A231S;ENSP00000286835:A246S;ENSP00000382703:A246S	ENSP00000286835:A246S	A	-	1	0	SCAF4	31995220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.783000	0.38664	1.415000	0.47037	-0.140000	0.14226	GCT		0.438	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		30	48	1	0	4.3181e-19	1	5.64621e-19	30	48				
MED13L	23389	broad.mit.edu	37	12	116422120	116422120	+	Missense_Mutation	SNP	G	G	A	rs530432287	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116422120G>A	ENST00000281928.3	-	20	4602	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1466						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTCCCACGCGCATGATCCCG	0.488													G|||	4	0.000798722	0.0	0.0	5008	,	,		19149	0.004		0.0	False		,,,				2504	0.0					ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(4396-4398)Cgc>Tgc		mediator complex subunit 13-like							144.0	99.0	114.0					12																	116422120		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116422120G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4396C>T	12.37:g.116422120G>A	ENSP00000281928:p.Arg1466Cys						p.R1466C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	20	4602	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1466					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4396C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991327	0.54041	.	.	ENSG00000123066	ENST00000281928	T	0.57273	0.41	5.43	4.54	0.55810	.	0.181750	0.48286	D	0.000191	T	0.48786	0.1519	M	0.73217	2.22	0.49389	D	0.999788	P	0.45212	0.853	B	0.34452	0.183	T	0.58177	-0.7682	10	0.87932	D	0	-10.8009	13.3185	0.60421	0.0:0.0:0.7121:0.2879	.	1466	Q71F56	MD13L_HUMAN	C	1466	ENSP00000281928:R1466C	ENSP00000281928:R1466C	R	-	1	0	MED13L	114906503	0.998000	0.40836	0.994000	0.49952	0.959000	0.62525	2.348000	0.44045	1.269000	0.44280	0.655000	0.94253	CGC		0.488	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			15	20	0	0	0	1	0	15	20				
SPZ1	84654	broad.mit.edu	37	5	79617181	79617181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617181A>G	ENST00000296739.4	+	1	1392	c.1147A>G	c.(1147-1149)Atg>Gtg	p.M383V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	383					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CAAGCAAGCAATGAAGGGTAC	0.363																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(1147-1149)Atg>Gtg		spermatogenic leucine zipper 1							82.0	80.0	80.0					5																	79617181		1856	4096	5952	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617181A>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1147A>G	5.37:g.79617181A>G	ENSP00000369611:p.Met383Val						p.M383V	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1392	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	383					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.1147A>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	A	4.667	0.124023	0.08931	.	.	ENSG00000164299	ENST00000296739	T	0.34859	1.34	3.4	0.945	0.19543	.	1.615070	0.03705	N	0.249218	T	0.30230	0.0758	L	0.39147	1.195	0.09310	N	1	B	0.17268	0.021	B	0.14023	0.01	T	0.22173	-1.0224	10	0.46703	T	0.11	-12.3939	4.9193	0.13862	0.7057:0.1876:0.1067:0.0	.	383	Q9BXG8	SPZ1_HUMAN	V	383	ENSP00000369611:M383V	ENSP00000369611:M383V	M	+	1	0	SPZ1	79652937	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.137000	0.10389	0.201000	0.20466	0.455000	0.32223	ATG		0.363	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		32	53	0	0	0	1	0	32	53				
LOC440040	440040	broad.mit.edu	37	11	49598030	49598030	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49598030G>T	ENST00000527477.1	+	0	634																											ACCCTGGAAAGGATCAATTCA	0.542																																						ENST00000527477.1																			0																																																			0							g.chr11:49598030G>T																													11.37:g.49598030G>T														0	634	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.542	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			5	23	1	0	0.014758	1	0.0152625	5	23				
GAK	2580	broad.mit.edu	37	4	877247	877247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:877247C>T	ENST00000314167.4	-	13	1370	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	GAK_ENST00000511163.1_Missense_Mutation_p.M341I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	420	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGGGAATGACATCACTGAAA	0.602																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1258-1260)atG>atA		cyclin G associated kinase							161.0	137.0	145.0					4																	877247		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:877247C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1260G>A	4.37:g.877247C>T	ENSP00000314499:p.Met420Ile					GAK_ENST00000511163.1_Missense_Mutation_p.M341I	p.M420I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	13	1370	-			420			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1260G>A	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954506	0.73902	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98633	-5.04;-5.04	5.34	5.34	0.76211	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.64830	0.994;0.985;0.975;0.992	D;D;P;P	0.77557	0.99;0.934;0.873;0.873	D	0.99671	1.0996	10	0.87932	D	0	-47.0203	16.5519	0.84474	0.0:1.0:0.0:0.0	.	341;341;420;316	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	I	420;341	ENSP00000314499:M420I;ENSP00000421361:M341I	ENSP00000314499:M420I	M	-	3	0	GAK	867247	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.656000	0.83736	2.498000	0.84270	0.591000	0.81541	ATG		0.602	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		5	70	0	0	0	1	0	5	70				
NOP56	10528	broad.mit.edu	37	20	2637823	2637823	+	Missense_Mutation	SNP	G	G	A	rs374043080		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2637823G>A	ENST00000329276.5	+	11	1894	c.1378G>A	c.(1378-1380)Gcg>Acg	p.A460T	NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	460	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ACTTGCCCTCGCGTCTTCAGA	0.517																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1378-1380)Gcg>Acg		NOP56 ribonucleoprotein		G	THR/ALA	0,4406		0,0,2203	76.0	74.0	75.0		1378	3.6	0.0	20		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOP56	NM_006392.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	460/595	2637823	1,13005	2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2637823G>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1378G>A	20.37:g.2637823G>A	ENSP00000370589:p.Ala460Thr					NOP56_ENST00000492135.1_3'UTR	p.A460T	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			11	1894	+			460			Lys-rich.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1378G>A	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569512	0.13560	0.0	1.16E-4	ENSG00000101361	ENST00000329276;ENST00000381169	T	0.42900	0.96	4.94	3.62	0.41486	.	0.785754	0.12375	N	0.474415	T	0.28896	0.0717	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.0;0.002	T	0.14090	-1.0485	10	0.33940	T	0.23	-0.356	8.5091	0.33206	0.1242:0.0:0.8758:0.0	.	207;460	E9PDI8;O00567	.;NOP56_HUMAN	T	460;207	ENSP00000370589:A460T	ENSP00000370589:A460T	A	+	1	0	NOP56	2585823	0.217000	0.23597	0.005000	0.12908	0.306000	0.27790	1.776000	0.38594	1.344000	0.45657	0.650000	0.86243	GCG		0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		32	39	0	0	0	1	0	32	39				
POLR1A	25885	broad.mit.edu	37	2	86272844	86272844	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86272844G>T	ENST00000263857.6	-	20	3160	c.2782C>A	c.(2782-2784)Ctg>Atg	p.L928M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L928M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	928					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GACGCCATCAGCGGGGGTCTC	0.557																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2782-2784)Ctg>Atg		polymerase (RNA) I polypeptide A, 194kDa							61.0	67.0	65.0					2																	86272844		1917	4135	6052	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86272844G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2782C>A	2.37:g.86272844G>T	ENSP00000263857:p.Leu928Met					POLR1A_ENST00000409681.1_Missense_Mutation_p.L928M	p.L928M			O95602	RPA1_HUMAN			20	3160	-			928					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2782C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263315	0.59431	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.77098	-1.07;-1.07	5.95	5.08	0.68730	RNA polymerase Rpb1, domain 4 (1);	0.075415	0.56097	D	0.000036	D	0.85622	0.5739	M	0.70903	2.155	0.50467	D	0.999874	D	0.67145	0.996	D	0.75020	0.985	D	0.86578	0.1852	10	0.72032	D	0.01	-17.7207	10.5565	0.45121	0.1471:0.0:0.8529:0.0	.	928	O95602	RPA1_HUMAN	M	928	ENSP00000263857:L928M;ENSP00000386300:L928M	ENSP00000263857:L928M	L	-	1	2	POLR1A	86126355	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	4.286000	0.58995	1.535000	0.49220	-0.136000	0.14681	CTG		0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		32	32	1	0	2.85442e-18	1	3.71821e-18	32	32				
TTN	7273	broad.mit.edu	37	2	179584372	179584372	+	Silent	SNP	G	G	T	rs377009958		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179584372G>T	ENST00000591111.1	-	80	23120	c.22896C>A	c.(22894-22896)ccC>ccA	p.P7632P	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.P6705P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.P7949P|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13182	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCGGCACAGGGGATTTTAA	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23845-23847)ccC>ccA		titin							168.0	161.0	163.0					2																	179584372		1871	4106	5977	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584372G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22896C>A	2.37:g.179584372G>T						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P6705P|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P7632P	p.P7949P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	24071	-			7632			Ig-like 62.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.23847C>A																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	110	1	0	2.27111e-07	1	2.66951e-07	13	110				
DNAH11	8701	broad.mit.edu	37	7	21631042	21631042	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21631042G>T	ENST00000409508.3	+	14	2545	c.2514G>T	c.(2512-2514)caG>caT	p.Q838H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q838H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	838	Stem. {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						AGGTGATCCAGCAGACCATGA	0.582									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.(2512-2514)caG>caT		dynein, axonemal, heavy chain 11							38.0	42.0	41.0					7																	21631042		2106	4221	6327	SO:0001583	missense	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.chr7:21631042G>T	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.2514G>T	7.37:g.21631042G>T	ENSP00000475939:p.Gln838His					DNAH11_ENST00000409508.3_Missense_Mutation_p.Q838H	p.Q838H			Q96DT5	DYH11_HUMAN			14	2545	+			838			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2514G>T		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680488	0.47886	.	.	ENSG00000105877	ENST00000328843	T	0.23950	1.88	5.63	5.63	0.86233	.	0.059734	0.64402	D	0.000002	T	0.47525	0.1450	.	.	.	0.48087	D	0.999583	D	0.89917	1.0	D	0.68192	0.956	T	0.37033	-0.9723	9	0.45353	T	0.12	.	12.5476	0.56208	0.08:0.0:0.92:0.0	.	838	Q96DT5	DYH11_HUMAN	H	838	ENSP00000330671:Q838H	ENSP00000330671:Q838H	Q	+	3	2	DNAH11	21597567	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	2.556000	0.45862	2.658000	0.90341	0.561000	0.74099	CAG		0.582	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		38	31	1	0	8.73648e-17	1	1.12908e-16	38	31				
MAN2B2	23324	broad.mit.edu	37	4	6595014	6595014	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6595014C>A	ENST00000285599.3	+	6	831	c.795C>A	c.(793-795)gcC>gcA	p.A265A	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	265					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ATGCCGAGGCCCTGGTGGCCA	0.632																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(793-795)gcC>gcA		mannosidase, alpha, class 2B, member 2							113.0	92.0	99.0					4																	6595014		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6595014C>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.795C>A	4.37:g.6595014C>A						MAN2B2_ENST00000504248.1_Intron	p.A265A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			6	831	+			265					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.795C>A	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	0.571	-0.841177	0.02692	.	.	ENSG00000013288	ENST00000505907	.	.	.	4.59	-0.946	0.10385	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23084	-1.0198	4	.	.	.	-0.0257	3.6354	0.08147	0.1078:0.5363:0.1344:0.2216	.	.	.	.	H	264	.	.	P	+	2	0	MAN2B2	6645915	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.787000	0.04618	-1.238000	0.02535	-2.146000	0.00336	CCC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		17	25	1	0	1.01871e-10	1	1.25892e-10	17	25				
SLC12A5	57468	broad.mit.edu	37	20	44665968	44665968	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44665968C>T	ENST00000454036.2	+	6	674	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SLC12A5_ENST00000243964.3_Silent_p.L186L|SLC12A5_ENST00000372315.1_Silent_p.L186L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	209					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCTTCTACCTGGGCACTAC	0.572																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(625-627)Ctg>Ttg		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						88.0	75.0	79.0					20																	44665968		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44665968C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.625C>T	20.37:g.44665968C>T						SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.L186L|SLC12A5_ENST00000372315.1_Silent_p.L186L	p.L209L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			6	701	+		Myeloproliferative disorder(115;0.0122)	209					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.625C>T	CCDS46610.1																																																																																				0.572	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			13	30	0	0	0	1	0	13	30				
NRD1	4898	broad.mit.edu	37	1	52343976	52343976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52343976G>A	ENST00000354831.7	-	1	501	c.312C>T	c.(310-312)gtC>gtT	p.V104V	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000352171.7_Silent_p.V104V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	104					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGGAGACTTGACGATCTCAG	0.612																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(310-312)gtC>gtT		nardilysin (N-arginine dibasic convertase)							63.0	66.0	65.0					1																	52343976		2203	4300	6503	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52343976G>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.312C>T	1.37:g.52343976G>A						NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Silent_p.V104V	p.V104V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			1	501	-			104					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.312C>T	CCDS559.1																																																																																				0.612	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		11	30	0	0	0	1	0	11	30				
KIFC3	3801	broad.mit.edu	37	16	57790311	57790311	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57790311C>T	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Missense_Mutation_p.R588W	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GATCCTGCAGCGGTTTCTGCC	0.597																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1762-1764)Cgg>Tgg		katanin p80 (WD repeat containing) subunit B 1							122.0	124.0	124.0					16																	57790311		2198	4300	6498	SO:0001628	intergenic_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57790311C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57790311C>T							p.R588W	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			19	2154	+		all_neural(199;0.223)	588			Interaction with KATNA1 and NDEL1 (By similarity).		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1762C>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217516	0.79352	.	.	ENSG00000140854	ENST00000379661	T	0.56275	0.47	5.27	5.27	0.74061	.	0.057286	0.64402	D	0.000002	T	0.66436	0.2789	L	0.56769	1.78	0.54753	D	0.999989	D	0.89917	1.0	D	0.71870	0.975	T	0.68652	-0.5352	10	0.72032	D	0.01	-27.7271	11.702	0.51577	0.2818:0.7182:0.0:0.0	.	588	Q9BVA0	KTNB1_HUMAN	W	588	ENSP00000368982:R588W	ENSP00000368982:R588W	R	+	1	2	KATNB1	56347812	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.744000	0.47450	2.474000	0.83562	0.542000	0.68232	CGG		0.597	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		45	87	0	0	0	1	0	45	87				
F11R	50848	broad.mit.edu	37	1	160969502	160969502	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160969502G>T	ENST00000368026.6	-	7	1004	c.730C>A	c.(730-732)Ctt>Att	p.L244I	F11R_ENST00000537746.1_Missense_Mutation_p.L195I|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'Flank	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	244					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AGGGTTACAAGGACGGCTGCC	0.532																																						ENST00000368026.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(730-732)Ctt>Att		F11 receptor							59.0	53.0	55.0					1																	160969502		2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160969502G>T	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.730C>A	1.37:g.160969502G>T	ENSP00000357005:p.Leu244Ile					F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.L195I	p.L244I	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		7	1004	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		244					B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.730C>A	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277671	0.23307	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.80994	-1.44;-1.44;-1.44	5.41	1.23	0.21249	.	0.338322	0.30492	N	0.009520	T	0.44329	0.1288	L	0.47190	1.495	0.27370	N	0.955728	B;B;B;B;B	0.18863	0.031;0.01;0.01;0.01;0.01	B;B;B;B;B	0.14023	0.01;0.004;0.004;0.004;0.004	T	0.12372	-1.0550	10	0.13853	T	0.58	.	1.0449	0.01568	0.2722:0.1527:0.4175:0.1576	.	248;195;244;244;244	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	I	244;244;244;195;248	ENSP00000357005:L244I;ENSP00000440812:L195I;ENSP00000394809:L248I	ENSP00000289779:L244I	L	-	1	0	F11R	159236126	0.982000	0.34865	0.948000	0.38648	0.655000	0.38815	0.466000	0.22019	0.796000	0.33947	0.563000	0.77884	CTT		0.532	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		9	21	1	0	0.000442599	1	0.00048047	9	21				
PCNX	22990	broad.mit.edu	37	14	71502806	71502806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502806G>A	ENST00000304743.2	+	19	4245	c.3799G>A	c.(3799-3801)Gta>Ata	p.V1267I	PCNX_ENST00000238570.5_Missense_Mutation_p.V1267I|PCNX_ENST00000439984.3_Missense_Mutation_p.V1156I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1267						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTGACCTGGTAGTATGCAT	0.323																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3799-3801)Gta>Ata		pecanex homolog (Drosophila)							266.0	233.0	245.0					14																	71502806		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71502806G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3799G>A	14.37:g.71502806G>A	ENSP00000304192:p.Val1267Ile					PCNX_ENST00000439984.3_Missense_Mutation_p.V1156I|PCNX_ENST00000238570.5_Missense_Mutation_p.V1267I	p.V1267I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	19	4245	+			1267					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3799G>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.166|7.166	0.586670|0.586670	0.13749|0.13749	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.09630|.	3.36;3.4;2.96|.	5.47|5.47	4.47|4.47	0.54385|0.54385	.|.	0.101572|.	0.64402|.	D|.	0.000004|.	T|.	0.34308|.	0.0893|.	N|N	0.05510|0.05510	-0.035|-0.035	0.39674|0.39674	D|D	0.97079|0.97079	B;B;B|.	0.09022|.	0.0;0.002;0.0|.	B;B;B|.	0.09377|.	0.001;0.004;0.001|.	T|.	0.17837|.	-1.0356|.	10|.	0.14656|.	T|.	0.56|.	.|.	9.9039|9.9039	0.41364|0.41364	0.155:0.0:0.845:0.0|0.155:0.0:0.845:0.0	.|.	1267;1156;1267|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	I|X	1267;1267;1156|325	ENSP00000304192:V1267I;ENSP00000238570:V1267I;ENSP00000396617:V1156I|.	ENSP00000238570:V1267I|.	V|W	+|+	1|3	0|0	PCNX|PCNX	70572559|70572559	1.000000|1.000000	0.71417|0.71417	0.876000|0.876000	0.34364|0.34364	0.965000|0.965000	0.64279|0.64279	5.091000|5.091000	0.64505|0.64505	2.565000|2.565000	0.86533|0.86533	0.467000|0.467000	0.42956|0.42956	GTA|TGG		0.323	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		36	79	0	0	0	1	0	36	79				
FBXO44	93611	broad.mit.edu	37	1	11718910	11718910	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11718910C>T	ENST00000251547.5	+	5	688	c.606C>T	c.(604-606)agC>agT	p.S202S	FBXO44_ENST00000376770.1_Silent_p.S202S|FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R161*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R193*	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	202	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAAGAGCGATGCCAAGT	0.657																																						ENST00000251546.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(481-483)Cga>Tga		F-box protein 44							41.0	43.0	42.0					1																	11718910		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718910C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.606C>T	1.37:g.11718910C>T						FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R193*|FBXO44_ENST00000376770.1_Silent_p.S202S|FBXO44_ENST00000251547.5_Silent_p.S202S|FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R161*	p.R161*	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	718	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Nonsense_Mutation	SNP	ENST00000251547.5	37	c.481C>T	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694614	0.88830	.	.	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376768;ENST00000376762;ENST00000376760	.	.	.	5.01	0.302	0.15786	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7297	6.3985	0.21626	0.0:0.413:0.0:0.587	.	.	.	.	X	161;161;193;161;161	.	ENSP00000251546:R161X	R	+	1	2	FBXO44	11641497	0.704000	0.27836	1.000000	0.80357	0.939000	0.58152	-0.369000	0.07533	0.158000	0.19367	-0.409000	0.06214	CGA		0.657	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		18	31	0	0	0	1	0	18	31				
FBF1	85302	broad.mit.edu	37	17	73911096	73911096	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73911096A>G	ENST00000586717.1	-	23	2860		c.e23+1		FBF1_ENST00000319129.5_Splice_Site|RP11-552F3.12_ENST00000587556.1_5'Flank|FBF1_ENST00000389570.4_Splice_Site			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTTGACTCACCTTGGCCCG	0.652																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.e23+1		Fas (TNFRSF6) binding factor 1							52.0	61.0	58.0					17																	73911096		2179	4252	6431	SO:0001630	splice_region_variant	85302							g.chr17:73911096A>G	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2586+1T>C	17.37:g.73911096A>G						FBF1_ENST00000319129.5_Splice_Site|FBF1_ENST00000389570.4_Splice_Site				A6NLR5	A6NLR5_HUMAN			23	2860	-								B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000586717.1	37			.	.	.	.	.	.	.	.	.	.	A	14.49	2.550222	0.45383	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9881	0.71365	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBF1	71422691	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	6.939000	0.75911	2.028000	0.59812	0.533000	0.62120	.		0.652	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	Intron	5	35	0	0	0	1	0	5	35				
ASB5	140458	broad.mit.edu	37	4	177142710	177142710	+	Silent	SNP	G	G	A	rs147166381	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177142710G>A	ENST00000296525.3	-	4	539	c.426C>T	c.(424-426)aaC>aaT	p.N142N	ASB5_ENST00000512254.1_Silent_p.N89N|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	142					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGGAGCATGCGTTGAATAACG	0.478																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(424-426)aaC>aaT		ankyrin repeat and SOCS box containing 5							121.0	110.0	113.0					4																	177142710		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177142710G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.426C>T	4.37:g.177142710G>A						ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.N89N	p.N142N	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	539	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	142					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.426C>T	CCDS3827.1																																																																																				0.478	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			9	52	0	0	0	1	0	9	52				
SYNE1	23345	broad.mit.edu	37	6	152674457	152674457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152674457C>T	ENST00000367255.5	-	69	11795	c.11194G>A	c.(11194-11196)Gct>Act	p.A3732T	SYNE1_ENST00000265368.4_Missense_Mutation_p.A3732T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3703T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3717T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3717T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3732					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTTGGTAGCCACATTCTTG	0.413										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11194-11196)Gct>Act		spectrin repeat containing, nuclear envelope 1							188.0	179.0	182.0					6																	152674457		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674457C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11194G>A	6.37:g.152674457C>T	ENSP00000356224:p.Ala3732Thr	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A3703T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3732T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3717T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3717T	p.A3732T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11795	-		Ovarian(120;0.0955)	3732					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11194G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026880	0.35797	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53423	0.71;0.73;0.62;0.73;0.86	5.75	3.89	0.44902	.	0.336793	0.25651	N	0.029218	T	0.09335	0.0230	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.14438	0.01;0.01;0.01;0.008	B;B;B;B	0.12156	0.004;0.004;0.004;0.007	T	0.32903	-0.9889	10	0.02654	T	1	.	3.2179	0.06705	0.1902:0.5347:0.0:0.2751	.	3732;3732;3732;3717	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	3732;3717;3732;3717;3703	ENSP00000356224:A3732T;ENSP00000396024:A3717T;ENSP00000265368:A3732T;ENSP00000390975:A3717T;ENSP00000341887:A3703T	ENSP00000265368:A3732T	A	-	1	0	SYNE1	152716150	0.997000	0.39634	1.000000	0.80357	0.965000	0.64279	0.696000	0.25541	1.450000	0.47717	-0.123000	0.14984	GCT		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		16	181	0	0	0	1	0	16	181				
MGAM	8972	broad.mit.edu	37	7	141727476	141727476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141727476G>T	ENST00000549489.2	+	10	1257	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.G388*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	388	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACGAATATGGAACCTTAGA	0.448																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1162-1164)Gga>Tga		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						60.0	59.0	59.0					7																	141727476		1864	4108	5972	SO:0001587	stop_gained	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727476G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1162G>T	7.37:g.141727476G>T	ENSP00000447378:p.Gly388*					MGAM_ENST00000549489.2_Nonsense_Mutation_p.G388*	p.G388*			O43451	MGA_HUMAN			10	1216	+	Melanoma(164;0.0272)		388			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	c.1162G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	38	6.689388	0.97764	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.55	4.66	0.58398	.	0.376195	0.23019	N	0.052879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.4937	0.27477	0.0831:0.0:0.7539:0.163	.	.	.	.	X	388;388;265	.	ENSP00000316431:G265X	G	+	1	0	MGAM	141373945	0.031000	0.19500	0.108000	0.21378	0.730000	0.41778	1.502000	0.35704	1.547000	0.49401	0.655000	0.94253	GGA		0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	52	1	0	2.56e-06	1	2.9446e-06	4	52				
KLHL36	79786	broad.mit.edu	37	16	84695193	84695193	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695193C>T	ENST00000564996.1	+	5	1446	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	KLHL36_ENST00000258157.5_Silent_p.Y372Y	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	435					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTTCACGTACGGCCACGCGG	0.622																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1303-1305)taC>taT		kelch-like family member 36							72.0	68.0	69.0					16																	84695193		2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84695193C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1305C>T	16.37:g.84695193C>T						KLHL36_ENST00000258157.5_Silent_p.Y372Y	p.Y435Y	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1446	+			435					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.1305C>T	CCDS10948.1																																																																																				0.622	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			8	70	0	0	0	1	0	8	70				
ELANE	1991	broad.mit.edu	37	19	856102	856102	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:856102C>T	ENST00000590230.1	+	6	883	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	ELANE_ENST00000263621.1_Missense_Mutation_p.R248C			P08246	ELNE_HUMAN	elastase, neutrophil expressed	248					acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TATCATCCAACGCTCCGAGGA	0.657																																						ENST00000590230.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13						c.(742-744)Cgc>Tgc		elastase, neutrophil expressed	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						89.0	103.0	98.0					19																	856102		2203	4300	6503	SO:0001583	missense	1991				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:856102C>T		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.742C>T	19.37:g.856102C>T	ENSP00000466090:p.Arg248Cys					ELANE_ENST00000263621.1_Missense_Mutation_p.R248C	p.R248C			P08246	ELNE_HUMAN			6	883	+			248					P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	c.742C>T	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768689	0.49680	.	.	ENSG00000197561	ENST00000263621	D	0.89875	-2.58	3.37	-6.74	0.01743	.	0.186945	0.26055	U	0.026616	D	0.84469	0.5479	L	0.59967	1.855	0.09310	N	1	D	0.89917	1.0	P	0.52957	0.714	T	0.75539	-0.3282	10	0.62326	D	0.03	.	1.9823	0.03429	0.426:0.1982:0.2695:0.1063	.	248	P08246	ELNE_HUMAN	C	248	ENSP00000263621:R248C	ENSP00000263621:R248C	R	+	1	0	ELANE	807102	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.730000	0.00805	-1.020000	0.03354	0.462000	0.41574	CGC		0.657	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		5	161	0	0	0	1	0	5	161				
PTPN13	5783	broad.mit.edu	37	4	87622930	87622930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87622930C>A	ENST00000411767.2	+	7	1234	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	PTPN13_ENST00000316707.6_Missense_Mutation_p.L391M|PTPN13_ENST00000436978.1_Missense_Mutation_p.L391M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L391M|PTPN13_ENST00000511467.1_Missense_Mutation_p.L391M			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	391					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTCAGGTTCTGAGGGAAGC	0.358																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1171-1173)Ctg>Atg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							42.0	40.0	40.0					4																	87622930		1842	4090	5932	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622930C>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1171C>A	4.37:g.87622930C>A	ENSP00000407249:p.Leu391Met					PTPN13_ENST00000511467.1_Missense_Mutation_p.L391M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L391M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L391M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L391M	p.L391M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1651	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	391					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.1171C>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212476	0.79240	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.66815	-0.23;-0.17;-0.07;-0.21;-0.17	6.03	6.03	0.97812	.	0.000000	0.40302	N	0.001126	D	0.82563	0.5064	M	0.71581	2.175	0.54753	D	0.999988	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.996;0.998	T	0.82094	-0.0627	10	0.62326	D	0.03	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	391;391;391;391	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	M	391;391;391;391;391;359	ENSP00000408368:L391M;ENSP00000394794:L391M;ENSP00000322675:L391M;ENSP00000407249:L391M;ENSP00000426626:L391M	ENSP00000322675:L391M	L	+	1	2	PTPN13	87841954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.852000	0.48310	2.861000	0.98227	0.655000	0.94253	CTG		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			4	46	1	0	0.000602214	1	0.000649039	4	46				
MC1R	4157	broad.mit.edu	37	16	89985956	89985956	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89985956T>C	ENST00000555147.1	+	1	1670	c.290T>C	c.(289-291)gTc>gCc	p.V97A	RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555427.1_Missense_Mutation_p.V97A|TUBB3_ENST00000556922.1_Missense_Mutation_p.V97A	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	97					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGACGGCCGTCATCCTCCTG	0.632									Melanoma, Familial Clustering of																													ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(289-291)gTc>gCc		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)							45.0	54.0	51.0					16																	89985956		2190	4289	6479	SO:0001583	missense	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89985956T>C		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.290T>C	16.37:g.89985956T>C	ENSP00000451605:p.Val97Ala					TUBB3_ENST00000556922.1_Missense_Mutation_p.V97A|MC1R_ENST00000555147.1_Missense_Mutation_p.V97A	p.V97A						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2593	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.290T>C	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009336	0.54361	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.02177	4.41;4.41;4.41	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003002	T	0.04048	0.0113	L	0.45744	1.44	0.32381	N	0.554573	B	0.21147	0.052	B	0.34779	0.189	T	0.10590	-1.0623	9	.	.	.	.	13.8153	0.63287	0.0:0.0:0.0:1.0	.	97	Q01726	MSHR_HUMAN	A	97	ENSP00000451760:V97A;ENSP00000451560:V97A;ENSP00000451605:V97A	.	V	+	2	0	MC1R;RP11-566K11.2	88513457	0.986000	0.35501	0.015000	0.15790	0.039000	0.13416	3.928000	0.56506	1.875000	0.54330	0.374000	0.22700	GTC		0.632	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		4	38	0	0	0	1	0	4	38				
MUC6	4588	broad.mit.edu	37	11	1028756	1028756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1028756G>A	ENST00000421673.2	-	13	1531	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	494	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGTGGGTGGACGTCTGCCT	0.657																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1480-1482)tCc>tTc		mucin 6, oligomeric mucus/gel-forming							45.0	51.0	49.0					11																	1028756		2128	4223	6351	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028756G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1481C>T	11.37:g.1028756G>A	ENSP00000406861:p.Ser494Phe						p.S494F	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1531	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	494			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1481C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980059	0.53827	.	.	ENSG00000184956	ENST00000421673	T	0.61392	0.11	4.34	4.34	0.51931	von Willebrand factor, type D domain (3);	0.000000	0.30338	U	0.009846	T	0.78323	0.4265	M	0.87547	2.89	0.45354	D	0.998345	D	0.89917	1.0	D	0.91635	0.999	T	0.83019	-0.0168	10	0.87932	D	0	.	14.3765	0.66881	0.0:0.0:1.0:0.0	.	494	Q6W4X9	MUC6_HUMAN	F	494	ENSP00000406861:S494F	ENSP00000406861:S494F	S	-	2	0	MUC6	1018756	1.000000	0.71417	0.997000	0.53966	0.491000	0.33493	4.484000	0.60271	2.154000	0.67381	0.313000	0.20887	TCC		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	14	0	0	0	1	0	7	14				
GRID1	2894	broad.mit.edu	37	10	87628915	87628915	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:87628915A>G	ENST00000327946.7	-	6	888	c.803T>C	c.(802-804)cTg>cCg	p.L268P		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	268					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GACCAGATCCAGGATCTCCGG	0.502										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(802-804)cTg>cCg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						133.0	119.0	124.0					10																	87628915		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628915A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.803T>C	10.37:g.87628915A>G	ENSP00000330148:p.Leu268Pro	Multiple Myeloma(13;0.14)					p.L268P	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			6	888	-			268					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.803T>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589809	0.66105	.	.	ENSG00000182771	ENST00000327946	D	0.83163	-1.69	5.82	5.82	0.92795	Extracellular ligand-binding receptor (1);	0.268614	0.38164	N	0.001797	D	0.83050	0.5170	L	0.36672	1.1	0.80722	D	1	D	0.57257	0.979	P	0.52159	0.691	D	0.84838	0.0806	10	0.62326	D	0.03	.	15.3729	0.74581	1.0:0.0:0.0:0.0	.	268	Q9ULK0	GRID1_HUMAN	P	268	ENSP00000330148:L268P	ENSP00000330148:L268P	L	-	2	0	GRID1	87618895	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.308000	0.78929	2.216000	0.71823	0.533000	0.62120	CTG		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		6	70	0	0	0	1	0	6	70				
OSBPL3	26031	broad.mit.edu	37	7	24839811	24839811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24839811G>A	ENST00000313367.2	-	23	3106	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	OSBPL3_ENST00000431825.2_Silent_p.V818V|OSBPL3_ENST00000396429.1_Silent_p.V849V|OSBPL3_ENST00000396431.1_Silent_p.V854V|OSBPL3_ENST00000409069.1_Silent_p.V818V|OSBPL3_ENST00000352860.1_Silent_p.V854V|OSBPL3_ENST00000353930.1_Silent_p.V849V|OSBPL3_ENST00000487020.1_5'UTR	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	885					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCACCATAAGACAGGATGGT	0.383																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(2653-2655)gtC>gtT		oxysterol binding protein-like 3							75.0	77.0	76.0					7																	24839811		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24839811G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2655C>T	7.37:g.24839811G>A						OSBPL3_ENST00000396431.1_Silent_p.V854V|OSBPL3_ENST00000431825.2_Silent_p.V818V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Silent_p.V849V|OSBPL3_ENST00000352860.1_Silent_p.V854V|OSBPL3_ENST00000409069.1_Silent_p.V818V|OSBPL3_ENST00000396429.1_Silent_p.V849V	p.V885V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			23	3106	-			885					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.2655C>T	CCDS5390.1																																																																																				0.383	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			6	39	0	0	0	1	0	6	39				
LRP4	4038	broad.mit.edu	37	11	46921053	46921053	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921053G>A	ENST00000378623.1	-	5	674	c.432C>T	c.(430-432)gaC>gaT	p.D144D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	144	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACTTGCGCATGTCTGGGGGGA	0.607																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.e5-1		low density lipoprotein receptor-related protein 4							100.0	84.0	89.0					11																	46921053		2201	4299	6500	SO:0001630	splice_region_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921053G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.431-1C>T	11.37:g.46921053G>A							p.D144_splice	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	5	674	-			144			LDL-receptor class A 3.		B2RN39|Q4AC85|Q5KTZ5	Splice_Site	SNP	ENST00000378623.1	37	c.430_splice	CCDS31478.1																																																																																				0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	Silent	15	52	0	0	0	1	0	15	52				
CNKSR2	22866	broad.mit.edu	37	X	21609293	21609293	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609293A>G	ENST00000379510.3	+	15	1847	c.1811A>G	c.(1810-1812)tAt>tGt	p.Y604C	CNKSR2_ENST00000543067.1_Missense_Mutation_p.Y555C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Y604C|CNKSR2_ENST00000425654.2_Missense_Mutation_p.Y574C	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	604	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCATCCCTTTATTGGTATATT	0.328																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1720-1722)tAt>tGt		connector enhancer of kinase suppressor of Ras 2							93.0	90.0	91.0					X																	21609293		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609293A>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1811A>G	X.37:g.21609293A>G	ENSP00000368824:p.Tyr604Cys					CNKSR2_ENST00000379510.3_Missense_Mutation_p.Y604C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.Y555C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Y604C	p.Y574C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			14	2201	+			604			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1721A>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.438177	0.62955	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	H	0.95260	3.645	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	T	0.66276	-0.5964	10	0.87932	D	0	-26.0105	14.3904	0.66975	1.0:0.0:0.0:0.0	.	574;555;196;604	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	C	574;555;604;604	ENSP00000397906:Y574C;ENSP00000444633:Y555C;ENSP00000279451:Y604C;ENSP00000368824:Y604C	ENSP00000279451:Y604C	Y	+	2	0	CNKSR2	21519214	1.000000	0.71417	0.916000	0.36221	0.727000	0.41649	8.962000	0.93254	1.777000	0.52277	0.425000	0.28330	TAT		0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		6	130	0	0	0	1	0	6	130				
PI4KA	5297	broad.mit.edu	37	22	21107203	21107203	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21107203C>A	ENST00000572273.1	-	25	3031	c.2801G>T	c.(2800-2802)gGt>gTt	p.G934V	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.G992V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	934					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCCACCAGACCAGATAGATA	0.423																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(2974-2976)gGt>gTt		phosphatidylinositol 4-kinase, catalytic, alpha							181.0	170.0	173.0					22																	21107203		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21107203C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2801G>T	22.37:g.21107203C>A	ENSP00000458238:p.Gly934Val					PI4KA_ENST00000572273.1_Missense_Mutation_p.G934V	p.G992V	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		25	3061	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	934					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2975G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.947773	0.73787	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	L	0.50333	1.59	0.80722	D	1	P	0.43352	0.804	B	0.44163	0.443	T	0.55866	-0.8073	9	0.30854	T	0.27	-18.6265	18.5699	0.91132	0.0:1.0:0.0:0.0	.	934	P42356	PI4KA_HUMAN	V	934	.	ENSP00000255882:G934V	G	-	2	0	PI4KA	19437203	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.560000	0.82277	2.640000	0.89533	0.655000	0.94253	GGT		0.423	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		85	136	1	0	2.16659e-41	1	2.92331e-41	85	136				
NLRP11	204801	broad.mit.edu	37	19	56312942	56312942	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56312942G>T	ENST00000589093.1	-	5	2260	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	NLRP11_ENST00000592953.1_Missense_Mutation_p.L624M|NLRP11_ENST00000360133.3_Missense_Mutation_p.L669M|NLRP11_ENST00000589824.2_Missense_Mutation_p.L669M|NLRP11_ENST00000443188.1_Missense_Mutation_p.L723M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	723							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTCACCTCAGATGACTTATT	0.488																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2167-2169)Ctg>Atg		NLR family, pyrin domain containing 11							124.0	104.0	111.0					19																	56312942		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56312942G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2167C>A	19.37:g.56312942G>T	ENSP00000466285:p.Leu723Met					NLRP11_ENST00000592953.1_Missense_Mutation_p.L624M|NLRP11_ENST00000589824.2_Missense_Mutation_p.L669M|NLRP11_ENST00000589093.1_Missense_Mutation_p.L723M|NLRP11_ENST00000360133.3_Missense_Mutation_p.L669M	p.L723M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2877	-		Colorectal(82;0.0002)	723					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2167C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752060	0.31046	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.80033	-1.33;-1.33	2.11	-0.24	0.13047	.	.	.	.	.	D	0.89266	0.6666	M	0.92691	3.335	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76860	-0.2803	9	0.54805	T	0.06	.	4.5912	0.12307	0.3533:0.0:0.6467:0.0	.	723;669	P59045;P59045-2	NAL11_HUMAN;.	M	723;669	ENSP00000409898:L723M;ENSP00000353251:L669M	ENSP00000353251:L669M	L	-	1	2	NLRP11	61004754	0.194000	0.23325	0.013000	0.15412	0.095000	0.18619	0.545000	0.23268	0.009000	0.14813	0.655000	0.94253	CTG		0.488	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		25	53	1	0	5.61819e-17	1	7.26839e-17	25	53				
NCOA7	135112	broad.mit.edu	37	6	126242113	126242113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126242113C>T	ENST00000368357.3	+	13	2621	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	NCOA7_ENST00000392477.2_Missense_Mutation_p.R757C|NCOA7_ENST00000229634.9_Missense_Mutation_p.R642C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	757					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGAGGCAAAGCGCAGGAAGAG	0.453																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(2269-2271)Cgc>Tgc		nuclear receptor coactivator 7							80.0	71.0	74.0					6																	126242113		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126242113C>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2269C>T	6.37:g.126242113C>T	ENSP00000357341:p.Arg757Cys					NCOA7_ENST00000229634.9_Missense_Mutation_p.R642C|NCOA7_ENST00000392477.2_Missense_Mutation_p.R757C	p.R757C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	13	2621	+			757					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.2269C>T	CCDS5132.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.689566|4.689566	0.88735|0.88735	.|.	.|.	ENSG00000111912|ENSG00000111912	ENST00000448104;ENST00000438495;ENST00000444128|ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353	.|T;T;T;T	.|0.35973	.|2.4;2.4;2.41;1.28	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59500|0.59500	0.2198|0.2198	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.962;0.999;0.998	T|T	0.60058|0.60058	-0.7337|-0.7337	5|10	.|0.66056	.|D	.|0.02	-5.5609|-5.5609	20.5753|20.5753	0.99366|0.99366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|746;51;746;757	.|B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08	.|.;.;.;NCOA7_HUMAN	V|C	51|757;757;642;67;67	.|ENSP00000357341:R757C;ENSP00000376269:R757C;ENSP00000229634:R642C;ENSP00000411002:R67C	.|ENSP00000229634:R642C	A|R	+|+	2|1	0|0	NCOA7|NCOA7	126283806|126283806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.453000|5.453000	0.66645|0.66645	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GCG|CGC		0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		18	35	0	0	0	1	0	18	35				
B4GALNT2	124872	broad.mit.edu	37	17	47243584	47243584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243584G>A	ENST00000300404.2	+	9	1302	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V355M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V329M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	415					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAGGTGCTGGTGGATGTCCT	0.512																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1243-1245)Gtg>Atg		beta-1,4-N-acetyl-galactosaminyl transferase 2							120.0	103.0	108.0					17																	47243584		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47243584G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1243G>A	17.37:g.47243584G>A	ENSP00000300404:p.Val415Met					B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V355M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V329M	p.V415M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1302	+			415					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1243G>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031954	0.93575	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.67865	-0.29;-0.29;-0.29	5.8	5.8	0.92144	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	D	0.82458	0.5041	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	T	0.83068	-0.0144	10	0.62326	D	0.03	-21.1202	18.8144	0.92071	0.0:0.0:1.0:0.0	.	355;415	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	M	329;355;415	ENSP00000425510:V329M;ENSP00000377022:V355M;ENSP00000300404:V415M	ENSP00000300404:V415M	V	+	1	0	B4GALNT2	44598583	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.819000	0.62664	2.732000	0.93576	0.655000	0.94253	GTG		0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		21	36	0	0	0	1	0	21	36				
ANKLE2	23141	broad.mit.edu	37	12	133312047	133312047	+	Missense_Mutation	SNP	A	A	G	rs202029547	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133312047A>G	ENST00000357997.5	-	9	1734	c.1645T>C	c.(1645-1647)Ttc>Ctc	p.F549L	ANKLE2_ENST00000542374.1_5'Flank|ANKLE2_ENST00000539605.1_Missense_Mutation_p.F487L|ANKLE2_ENST00000337516.5_Missense_Mutation_p.F549L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	549					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGTGAAGGAAGCCTGCTTTC	0.527																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1459-1461)Ttc>Ctc		ankyrin repeat and LEM domain containing 2							140.0	145.0	144.0					12																	133312047		2010	4183	6193	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133312047A>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1645T>C	12.37:g.133312047A>G	ENSP00000350686:p.Phe549Leu					ANKLE2_ENST00000337516.5_Missense_Mutation_p.F549L|ANKLE2_ENST00000357997.5_Missense_Mutation_p.F549L	p.F487L			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	8	8143	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	549					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1459T>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	a	8.322	0.824442	0.16678	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.24	4.1	0.47936	.	0.390135	0.31989	N	0.006757	T	0.23886	0.0578	N	0.16862	0.45	0.31476	N	0.667736	B;B	0.16166	0.005;0.016	B;B	0.15484	0.013;0.006	T	0.21211	-1.0252	10	0.10636	T	0.68	-14.6857	10.8664	0.46858	0.9256:0.0:0.0744:0.0	.	549;549	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	L	487;549;549;112	ENSP00000446268:F487L;ENSP00000350686:F549L;ENSP00000337651:F549L;ENSP00000437585:F112L	ENSP00000337651:F549L	F	-	1	0	ANKLE2	131822120	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	2.105000	0.41825	0.934000	0.37316	0.533000	0.62120	TTC		0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			5	124	0	0	0	1	0	5	124				
APP	351	broad.mit.edu	37	21	27372368	27372368	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27372368T>C	ENST00000346798.3	-	7	1028	c.995A>G	c.(994-996)gAc>gGc	p.D332G	APP_ENST00000348990.5_Intron|APP_ENST00000440126.3_Missense_Mutation_p.D327G|APP_ENST00000357903.3_Missense_Mutation_p.D332G|APP_ENST00000354192.3_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000359726.3_Intron|APP_ENST00000439274.2_Missense_Mutation_p.D276G|APP_ENST00000358918.3_Missense_Mutation_p.D332G	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	332	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTCTTCTGTGTCAAAGTTGTT	0.557																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(994-996)gAc>gGc		amyloid beta (A4) precursor protein							68.0	58.0	62.0					21																	27372368		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27372368T>C	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.995A>G	21.37:g.27372368T>C	ENSP00000284981:p.Asp332Gly					APP_ENST00000354192.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000440126.3_Missense_Mutation_p.D327G|APP_ENST00000359726.3_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000357903.3_Missense_Mutation_p.D332G|APP_ENST00000439274.2_Missense_Mutation_p.D276G|APP_ENST00000346798.3_Missense_Mutation_p.D332G	p.D332G	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			7	1194	-		Breast(209;0.00295)	332			BPTI/Kunitz inhibitor.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.995A>G	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.40|18.40	3.614971|3.614971	0.66672|0.66672	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000357903;ENST00000358918;ENST00000440126;ENST00000439274|ENST00000448850	T;T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39;0.39|.	5.01|5.01	3.86|3.86	0.44501|0.44501	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);|.	0.283974|.	0.39834|.	N|.	0.001248|.	T|.	0.40272|.	0.1110|.	N|N	0.16743|0.16743	0.435|0.435	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.16603|.	0.018;0.002;0.002;0.018|.	B;B;B;B|.	0.19666|.	0.026;0.007;0.004;0.026|.	T|.	0.17930|.	-1.0353|.	10|.	0.56958|.	D|.	0.05|.	-39.2032|-39.2032	10.6593|10.6593	0.45694|0.45694	0.0:0.0877:0.0:0.9123|0.0:0.0877:0.0:0.9123	.|.	276;327;332;332|.	E9PG40;B4DII8;P05067-8;P05067|.	.;.;.;A4_HUMAN|.	G|W	332;332;332;327;276|253	ENSP00000284981:D332G;ENSP00000350578:D332G;ENSP00000351796:D332G;ENSP00000387483:D327G;ENSP00000398879:D276G|.	ENSP00000284981:D332G|.	D|X	-|-	2|3	0|0	APP|APP	26294239|26294239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.764000|5.764000	0.68826|0.68826	2.112000|2.112000	0.64535|0.64535	0.528000|0.528000	0.53228|0.53228	GAC|TGA		0.557	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		15	12	0	0	0	1	0	15	12				
TENC1	23371	broad.mit.edu	37	12	53448969	53448969	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53448969G>A	ENST00000314250.6	+	8	812		c.e8-1		RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000552570.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000379902.3_Splice_Site|TENC1_ENST00000549700.1_Splice_Site	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTTATTTCAGCTCTTCAACC	0.488																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.e8-1		tensin like C1 domain containing phosphatase (tensin 2)							122.0	119.0	120.0					12																	53448969		2203	4300	6503	SO:0001630	splice_region_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53448969G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.523-1G>A	12.37:g.53448969G>A						TENC1_ENST00000552570.1_Splice_Site|TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000549700.1_Splice_Site|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site|TENC1_ENST00000379902.3_Splice_Site		NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			8	812	+								A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Splice_Site	SNP	ENST00000314250.6	37		CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689263	0.68271	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9795	0.64295	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TENC1	51735236	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.824000	0.92023	2.238000	0.73509	0.297000	0.19635	.		0.488	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754	Intron	22	42	0	0	0	1	0	22	42				
WDR45	11152	broad.mit.edu	37	X	48933405	48933405	+	Missense_Mutation	SNP	G	G	A	rs192312429		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48933405G>A	ENST00000376372.3	-	8	705	c.524C>T	c.(523-525)gCg>gTg	p.A175V	WDR45_ENST00000396681.4_Missense_Mutation_p.A175V|AF196779.12_ENST00000376358.3_Missense_Mutation_p.A73V|WDR45_ENST00000376368.2_Missense_Mutation_p.A176V|WDR45_ENST00000322995.8_Missense_Mutation_p.A186V|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.A140V|WDR45_ENST00000356463.3_Missense_Mutation_p.A176V|WDR45_ENST00000553851.1_Missense_Mutation_p.A73V|PRAF2_ENST00000376390.4_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000473974.1_Missense_Mutation_p.A175V	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	175					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTTTGTGCTCGCCAGGTCCTG	0.582													G|||	1	0.000264901	0.0	0.0014	3775	,	,		13281	0.0		0.0	False		,,,				2504	0.0					ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(526-528)gCg>gTg		WD repeat domain 45							55.0	44.0	48.0					X																	48933405		2203	4298	6501	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933405G>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.524C>T	X.37:g.48933405G>A	ENSP00000365551:p.Ala175Val					WDR45_ENST00000485908.1_Missense_Mutation_p.A140V|WDR45_ENST00000473974.1_Missense_Mutation_p.A175V|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000396681.4_Missense_Mutation_p.A175V|WDR45_ENST00000376358.3_Missense_Mutation_p.A73V|WDR45_ENST00000376372.3_Missense_Mutation_p.A175V|WDR45_ENST00000322995.8_Missense_Mutation_p.A186V|WDR45_ENST00000553851.1_Missense_Mutation_p.A73V|WDR45_ENST00000376368.2_Missense_Mutation_p.A176V	p.A176V	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			9	965	-			175					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.527C>T	CCDS35250.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.30	2.197246	0.38806	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475977;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T	0.64085	2.3;0.55;0.55;0.55;0.71;0.55;0.55;0.55;-0.08;2.3;0.55;0.55;2.3	3.76	3.76	0.43208	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.209202	0.41194	D	0.000939	T	0.50514	0.1620	L	0.55990	1.75	0.31968	N	0.607475	P;B;B;B;B;B	0.51791	0.948;0.127;0.09;0.095;0.005;0.121	B;B;B;B;B;B	0.35655	0.207;0.023;0.05;0.014;0.017;0.018	T	0.66360	-0.5943	10	0.56958	D	0.05	-8.9672	10.5756	0.45225	0.0:0.1934:0.8066:0.0	.	73;175;186;140;176;175	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	V	73;175;186;176;140;175;176;175;3;108;141;200;73	ENSP00000451962:A73V;ENSP00000365551:A175V;ENSP00000365543:A186V;ENSP00000348848:A176V;ENSP00000419897:A140V;ENSP00000417211:A175V;ENSP00000365546:A176V;ENSP00000379913:A175V;ENSP00000417754:A3V;ENSP00000418466:A108V;ENSP00000418919:A141V;ENSP00000420728:A200V;ENSP00000365536:A73V	ENSP00000365536:A73V	A	-	2	0	AF196779.12;WDR45	48820349	1.000000	0.71417	0.994000	0.49952	0.575000	0.36095	5.049000	0.64244	1.814000	0.52955	0.409000	0.27619	GCG		0.582	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		3	11	0	0	0	1	0	3	11				
EPB41L4B	54566	broad.mit.edu	37	9	112015721	112015721	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112015721C>A	ENST00000374566.3	-	12	1796	c.1279G>T	c.(1279-1281)Gca>Tca	p.A427S	EPB41L4B_ENST00000374557.4_Splice_Site_p.A427S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	427					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.A427P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACACACAACCTTTGAACGTT	0.428																																						ENST00000374566.3																			2	Substitution - Missense(2)	p.A427P(2)	lung(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e12+1		erythrocyte membrane protein band 4.1 like 4B							155.0	152.0	153.0					9																	112015721		1872	4111	5983	SO:0001630	splice_region_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112015721C>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1279+1G>T	9.37:g.112015721C>A						EPB41L4B_ENST00000374557.4_Splice_Site_p.A427_splice	p.A427_splice	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			12	1796	-			427					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Splice_Site	SNP	ENST00000374566.3	37	c.1279_splice	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395245	0.96009	.	.	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.83506	-1.73;-1.73	5.5	5.5	0.81552	.	0.000000	0.39615	N	0.001306	T	0.73241	0.3562	L	0.27053	0.805	0.80722	D	1	B;P	0.35714	0.232;0.517	B;B	0.28139	0.07;0.086	T	0.71052	-0.4704	9	.	.	.	.	19.7739	0.96383	0.0:1.0:0.0:0.0	.	427;427	Q9H329-2;Q9H329	.;E41LB_HUMAN	S	112;427;427;349	ENSP00000363694:A427S;ENSP00000363685:A427S	.	A	-	1	0	EPB41L4B	111055542	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.782000	0.68973	2.744000	0.94065	0.655000	0.94253	GCA		0.428	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	Missense_Mutation	4	81	1	0	0.00024832	1	0.0002712	4	81				
ZAP70	7535	broad.mit.edu	37	2	98351726	98351726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98351726G>A	ENST00000264972.5	+	10	1311	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.V59M|ZAP70_ENST00000442208.1_Missense_Mutation_p.V240M	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCAGATCGACGTGGCCATCAA	0.662																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1096-1098)Gtg>Atg		zeta-chain (TCR) associated protein kinase 70kDa							109.0	84.0	92.0					2																	98351726		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351726G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1096G>A	2.37:g.98351726G>A	ENSP00000264972:p.Val366Met					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.V59M|ZAP70_ENST00000442208.1_Missense_Mutation_p.V240M	p.V366M	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1311	+			366			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1096G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066755	0.93898	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.89939	-2.59;-2.59;-2.59	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000382	D	0.95859	0.8652	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.976;0.987	D	0.96334	0.9246	10	0.87932	D	0	.	17.636	0.88122	0.0:0.0:1.0:0.0	.	240;366	P43403-3;P43403	.;ZAP70_HUMAN	M	366;240;59	ENSP00000264972:V366M;ENSP00000411141:V240M;ENSP00000400475:V59M	ENSP00000264972:V366M	V	+	1	0	ZAP70	97718158	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	9.799000	0.99117	2.853000	0.98044	0.655000	0.94253	GTG		0.662	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			29	41	0	0	0	1	0	29	41				
TMEM184B	25829	broad.mit.edu	37	22	38617604	38617604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38617604G>A	ENST00000361906.3	-	9	1304	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	TMEM184B_ENST00000361684.4_Nonsense_Mutation_p.Q366*|TMEM184B_ENST00000504337.1_5'UTR	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	366				Q -> L (in Ref. 9; BAC11607). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GTGGACTGCTGCGTGTACTGC	0.642																																						ENST00000361906.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1096-1098)Cag>Tag		transmembrane protein 184B							135.0	100.0	112.0					22																	38617604		2203	4300	6503	SO:0001587	stop_gained	25829					integral to membrane		g.chr22:38617604G>A	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.1096C>T	22.37:g.38617604G>A	ENSP00000355210:p.Gln366*					RP1-5O6.6_ENST00000504337.1_RNA|TMEM184B_ENST00000361684.4_Nonsense_Mutation_p.Q366*	p.Q366*	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN			9	1304	-	Melanoma(58;0.045)		366	Q -> L (in Ref. 9; BAC11607).				A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Nonsense_Mutation	SNP	ENST00000361906.3	37	c.1096C>T	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	G	40	8.035705	0.98621	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.4374	0.90652	0.0:0.0:1.0:0.0	.	.	.	.	X	366	.	ENSP00000354441:Q366X	Q	-	1	0	TMEM184B	36947550	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	9.816000	0.99350	2.363000	0.80096	0.561000	0.74099	CAG		0.642	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		24	25	0	0	0	1	0	24	25				
XPO6	23214	broad.mit.edu	37	16	28187242	28187242	+	Missense_Mutation	SNP	C	C	T	rs377255371		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28187242C>T	ENST00000304658.5	-	4	882	c.382G>A	c.(382-384)Gac>Aac	p.D128N	XPO6_ENST00000565698.1_Missense_Mutation_p.D114N	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	128					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTAAAAAAGTCGTGGTAGAAC	0.378																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(382-384)Gac>Aac		exportin 6		C	ASN/ASP	0,3720		0,0,1860	70.0	64.0	66.0		382	5.4	1.0	16		66	1,8201		0,1,4100	no	missense	XPO6	NM_015171.2	23	0,1,5960	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	128/1126	28187242	1,11921	1860	4101	5961	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28187242C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.382G>A	16.37:g.28187242C>T	ENSP00000302790:p.Asp128Asn					XPO6_ENST00000565698.1_Missense_Mutation_p.D114N	p.D128N	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			4	882	-			128					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.382G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946251	0.73672	0.0	1.22E-4	ENSG00000169180	ENST00000304658	T	0.68025	-0.3	5.42	5.42	0.78866	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.39898	1.24	0.80722	D	1	P;P	0.47841	0.808;0.901	B;B	0.38327	0.173;0.271	T	0.54159	-0.8335	10	0.12430	T	0.62	-19.1183	17.0597	0.86543	0.0:1.0:0.0:0.0	.	128;128	B7ZM10;Q96QU8	.;XPO6_HUMAN	N	128	ENSP00000302790:D128N	ENSP00000302790:D128N	D	-	1	0	XPO6	28094743	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.698000	0.92095	0.655000	0.94253	GAC		0.378	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		27	32	0	0	0	1	0	27	32				
CELSR2	1952	broad.mit.edu	37	1	109803708	109803708	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109803708G>T	ENST00000271332.3	+	3	4064	c.4003G>T	c.(4003-4005)Ggt>Tgt	p.G1335C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1335	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCACCCCGGGTGTCTGCAA	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4003-4005)Ggt>Tgt		cadherin, EGF LAG seven-pass G-type receptor 2							90.0	86.0	87.0					1																	109803708		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803708G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4003G>T	1.37:g.109803708G>T	ENSP00000271332:p.Gly1335Cys						p.G1335C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4064	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1335			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4003G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367166	0.82463	.	.	ENSG00000143126	ENST00000271332	T	0.69306	-0.39	4.77	3.83	0.44106	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81108	0.4754	M	0.90145	3.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86146	0.1584	9	0.87932	D	0	.	14.8414	0.70226	0.0:0.1445:0.8555:0.0	.	1335	Q9HCU4	CELR2_HUMAN	C	1335	ENSP00000271332:G1335C	ENSP00000271332:G1335C	G	+	1	0	CELSR2	109605231	1.000000	0.71417	0.608000	0.28969	0.946000	0.59487	7.777000	0.85628	1.193000	0.43086	0.561000	0.74099	GGT		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		20	84	1	0	2.21704e-12	1	2.7869e-12	20	84				
CAD	790	broad.mit.edu	37	2	27454415	27454415	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27454415C>T	ENST00000403525.1	+	15	2322	c.2178C>T	c.(2176-2178)ggC>ggT	p.G726G	CAD_ENST00000264705.4_Silent_p.G789G|CAD_ENST00000464159.1_3'UTR			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGTGTGGGCTTTGATCACA	0.532																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2365-2367)ggC>ggT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						145.0	120.0	129.0					2																	27454415		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27454415C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2178C>T	2.37:g.27454415C>T						CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Silent_p.G726G	p.G789G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			16	2529	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		789			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2367C>T																																																																																					0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			4	42	0	0	0	1	0	4	42				
LMOD2	442721	broad.mit.edu	37	7	123302331	123302331	+	Missense_Mutation	SNP	C	C	T	rs368348168		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123302331C>T	ENST00000458573.2	+	2	848	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	231						cytoskeleton (GO:0005856)											GACCCTTACCCGCTTTGCTGA	0.493																																						ENST00000458573.2																			0											c.(691-693)Cgc>Tgc		leiomodin 2 (cardiac)		C	CYS/ARG	0,4182		0,0,2091	97.0	97.0	97.0		691	5.0	1.0	7		97	2,8442		0,2,4220	no	missense	LMOD2	NM_207163.1	180	0,2,6311	TT,TC,CC		0.0237,0.0,0.0158	probably-damaging	231/548	123302331	2,12624	2091	4222	6313	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302331C>T	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.691C>T	7.37:g.123302331C>T	ENSP00000411932:p.Arg231Cys					LMOD2_ENST00000456238.2_Intron	p.R231C	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	848	+			231					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.691C>T	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551124	0.45383	0.0	2.37E-4	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.93076	-3.16	5.04	5.04	0.67666	.	.	.	.	.	D	0.93517	0.7931	M	0.64404	1.975	0.29682	N	0.841617	D	0.76494	0.999	P	0.50490	0.642	D	0.90847	0.4728	9	0.72032	D	0.01	-9.5077	11.8837	0.52589	0.0:0.9195:0.0:0.0805	.	231	Q6P5Q4	LMOD2_HUMAN	C	231;191;202	ENSP00000411932:R231C	ENSP00000405123:R202C	R	+	1	0	LMOD2	123089567	0.744000	0.28250	0.988000	0.46212	0.515000	0.34225	1.596000	0.36718	2.342000	0.79632	0.586000	0.80456	CGC		0.493	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			25	25	0	0	0	1	0	25	25				
CHTF18	63922	broad.mit.edu	37	16	846736	846736	+	Missense_Mutation	SNP	C	C	T	rs202088652		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846736C>T	ENST00000262315.9	+	19	2539	c.2476C>T	c.(2476-2478)Cgc>Tgc	p.R826C	CHTF18_ENST00000455171.2_Missense_Mutation_p.R854C|CHTF18_ENST00000317063.6_Missense_Mutation_p.R1035C	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	826					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAACTCTGCCGCTTCCCTGA	0.682													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14673	0.0		0.0	False		,,,				2504	0.0					ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(3103-3105)Cgc>Tgc		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							20.0	27.0	25.0					16																	846736		2106	4194	6300	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:846736C>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2476C>T	16.37:g.846736C>T	ENSP00000262315:p.Arg826Cys					CHTF18_ENST00000262315.9_Missense_Mutation_p.R826C|CHTF18_ENST00000455171.2_Missense_Mutation_p.R854C	p.R1035C			Q8WVB6	CTF18_HUMAN			21	3103	+		Hepatocellular(780;0.00335)	826					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.3103C>T	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206916	0.22205	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.10960	2.82;2.85;2.84	4.21	2.02	0.26589	.	0.212826	0.47093	D	0.000242	T	0.07683	0.0193	L	0.58302	1.8	0.58432	D	0.999998	P;P	0.39376	0.67;0.54	B;B	0.27608	0.081;0.037	T	0.26780	-1.0093	10	0.36615	T	0.2	-10.8331	4.7677	0.13141	0.3341:0.5563:0.0:0.1096	.	854;826	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	C	1035;854;826	ENSP00000313029:R1035C;ENSP00000406252:R854C;ENSP00000262315:R826C	ENSP00000262315:R826C	R	+	1	0	CHTF18	786737	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	0.808000	0.27154	0.742000	0.32697	0.313000	0.20887	CGC		0.682	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		4	20	0	0	0	1	0	4	20				
SLC5A3	6526	broad.mit.edu	37	21	35467811	35467811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35467811G>A	ENST00000381151.3	+	2	826	c.314G>A	c.(313-315)gGg>gAg	p.G105E	SLC5A3_ENST00000608209.1_Missense_Mutation_p.G105E|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	105					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCGGTCAGGGGTATATACC	0.453																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(313-315)gGg>gAg		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							184.0	180.0	181.0					21																	35467811		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467811G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.314G>A	21.37:g.35467811G>A	ENSP00000370543:p.Gly105Glu					MRPS6_ENST00000399312.2_Intron	p.G105E	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	826	+			105					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.314G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959058	0.53400	.	.	ENSG00000198743	ENST00000381151	D	0.90844	-2.74	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.81239	2.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95701	0.8749	10	0.66056	D	0.02	.	15.9157	0.79517	0.0:0.1355:0.8645:0.0	.	105	P53794	SC5A3_HUMAN	E	105	ENSP00000370543:G105E	ENSP00000370543:G105E	G	+	2	0	SLC5A3	34389681	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.858000	0.99539	1.495000	0.48549	0.609000	0.83330	GGG		0.453	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			6	186	0	0	0	1	0	6	186				
F9	2158	broad.mit.edu	37	X	138630556	138630556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138630556G>T	ENST00000218099.2	+	5	433	c.426G>T	c.(424-426)gaG>gaT	p.E142D	F9_ENST00000394090.2_Missense_Mutation_p.E104D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	142	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GCAGATGCGAGCAGTTTTGTA	0.378																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(424-426)gaG>gaT		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						191.0	164.0	173.0					X																	138630556		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630556G>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.426G>T	X.37:g.138630556G>T	ENSP00000218099:p.Glu142Asp					F9_ENST00000394090.2_Missense_Mutation_p.E104D	p.E142D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			5	433	+	Acute lymphoblastic leukemia(192;0.000127)		142			EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.426G>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	1.021	-0.684935	0.03328	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.96774	-4.12;-4.12	4.94	4.94	0.65067	Epidermal growth factor-like (1);	0.617370	0.17339	N	0.177807	D	0.90861	0.7129	N	0.17901	0.54	0.23780	N	0.996867	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.80042	-0.1548	9	.	.	.	.	10.158	0.42833	0.0:0.0:0.801:0.199	.	104;142	Q5FBE1;P00740	.;FA9_HUMAN	D	142;104	ENSP00000218099:E142D;ENSP00000377650:E104D	.	E	+	3	2	F9	138458222	1.000000	0.71417	0.999000	0.59377	0.203000	0.24098	2.433000	0.44793	2.174000	0.68829	0.544000	0.68410	GAG		0.378	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			9	92	1	0	0.000274275	1	0.000298791	9	92				
FGF9	2254	broad.mit.edu	37	13	22275412	22275412	+	Silent	SNP	C	C	T	rs143118647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:22275412C>T	ENST00000382353.5	+	3	995	c.465C>T	c.(463-465)caC>caT	p.H155H	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	155					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TATATAAGCACGTGGACACTG	0.388																																					Melanoma(195;1939 2127 12623 13963 52730)	ENST00000382353.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9						c.(463-465)caC>caT		fibroblast growth factor 9		C		1,4405	2.1+/-5.4	0,1,2202	104.0	93.0	96.0		465	0.1	1.0	13	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	FGF9	NM_002010.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		155/209	22275412	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2254				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	g.chr13:22275412C>T	D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.465C>T	13.37:g.22275412C>T						FGF9_ENST00000478546.1_3'UTR	p.H155H	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	3	995	+		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)	155					A8K427|Q3SY32	Silent	SNP	ENST00000382353.5	37	c.465C>T	CCDS9298.1																																																																																				0.388	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			7	64	0	0	0	1	0	7	64				
RASGRP2	10235	broad.mit.edu	37	11	64504321	64504321	+	Missense_Mutation	SNP	C	C	A	rs374345558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64504321C>A	ENST00000354024.3	-	9	1251	c.999G>T	c.(997-999)aaG>aaT	p.K333N	RASGRP2_ENST00000377497.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000394432.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000377494.1_Missense_Mutation_p.K333N	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	333	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCTTCATCTTGGCCCCGT	0.657																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(997-999)aaG>aaT		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							34.0	33.0	33.0					11																	64504321		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64504321C>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.999G>T	11.37:g.64504321C>A	ENSP00000338864:p.Lys333Asn					RASGRP2_ENST00000394432.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000377497.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000354024.3_Missense_Mutation_p.K333N	p.K333N			Q7LDG7	GRP2_HUMAN			8	1921	-			333			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.999G>T	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094012	0.76870	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.34	4.43	0.53597	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.84334	0.5449	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88248	0.2914	10	0.87932	D	0	-29.5315	11.9239	0.52808	0.0:0.9148:0.0:0.0852	.	333;333	Q7LDG7;A6NDC7	GRP2_HUMAN;.	N	333	ENSP00000366714:K333N;ENSP00000377953:K333N;ENSP00000366717:K333N;ENSP00000338864:K333N	ENSP00000338864:K333N	K	-	3	2	RASGRP2	64260897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.141000	0.31528	1.397000	0.46682	0.579000	0.79373	AAG		0.657	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		14	14	1	0	4.3838e-07	1	5.12524e-07	14	14				
PPARGC1B	133522	broad.mit.edu	37	5	149212534	149212534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212534C>A	ENST00000309241.5	+	5	930	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P300T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P261T|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P236T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	300					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTACTGCCTCCCCCAGAGGAA	0.662																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(898-900)Ccc>Acc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							43.0	50.0	47.0					5																	149212534		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212534C>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.898C>A	5.37:g.149212534C>A	ENSP00000312649:p.Pro300Thr					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P236T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P261T|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P300T	p.P300T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	930	+			300					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.898C>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361352	0.82353	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.36157	1.33;1.27;1.35;1.31	5.76	5.76	0.90799	.	0.071150	0.64402	D	0.000014	T	0.53722	0.1814	L	0.36672	1.1	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.997;1.0	T	0.51949	-0.8640	10	0.59425	D	0.04	-26.0188	19.976	0.97309	0.0:1.0:0.0:0.0	.	279;279;261;300;300	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	T	261;300;300;236	ENSP00000353638:P261T;ENSP00000377855:P300T;ENSP00000312649:P300T;ENSP00000384403:P236T	ENSP00000312649:P300T	P	+	1	0	PPARGC1B	149192727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.376000	0.73141	2.713000	0.92767	0.655000	0.94253	CCC		0.662	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		27	34	1	0	1.66031e-10	1	2.04717e-10	27	34				
MLKL	197259	broad.mit.edu	37	16	74719482	74719482	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74719482C>A	ENST00000308807.7	-	5	1186		c.e5-1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCTCACTATTCTATAAGGATT	0.418																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.e5-1		mixed lineage kinase domain-like							78.0	72.0	74.0					16																	74719482		2198	4300	6498	SO:0001630	splice_region_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74719482C>A	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.723-1G>T	16.37:g.74719482C>A						MLKL_ENST00000306247.7_Intron		NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			5	1186	-									Splice_Site	SNP	ENST00000308807.7	37		CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759706	0.31137	.	.	ENSG00000168404	ENST00000308807	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.557	0.61765	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLKL	73276983	0.998000	0.40836	0.336000	0.25522	0.004000	0.04260	4.431000	0.59915	2.487000	0.83934	0.609000	0.83330	.		0.418	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	Intron	10	26	1	0	0.000978159	1	0.00105116	10	26				
SLC2A4	6517	broad.mit.edu	37	17	7187151	7187151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7187151C>T	ENST00000317370.8	+	4	686	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	SLC2A4_ENST00000424875.2_Missense_Mutation_p.L130F|SLC2A4_ENST00000571308.1_Missense_Mutation_p.L140F|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	140					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AATGCTCATCCTTGGACGATT	0.592																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(418-420)Ctt>Ttt		solute carrier family 2 (facilitated glucose transporter), member 4							72.0	66.0	68.0					17																	7187151		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187151C>T	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.418C>T	17.37:g.7187151C>T	ENSP00000320935:p.Leu140Phe					SLC2A4_ENST00000424875.2_Missense_Mutation_p.L130F|SLC2A4_ENST00000571308.1_Missense_Mutation_p.L140F|RP1-4G17.2_ENST00000576271.1_RNA	p.L140F	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			4	686	+			140					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.418C>T	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528627	0.27299	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;D	0.82344	0.13;-1.6	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.79173	0.4401	L	0.55743	1.74	0.51233	D	0.999917	B;B	0.22983	0.078;0.077	B;B	0.24006	0.05;0.03	T	0.73642	-0.3918	10	0.33940	T	0.23	.	12.4058	0.55439	0.168:0.832:0.0:0.0	.	140;130	P14672;F5H081	GTR4_HUMAN;.	F	140;130	ENSP00000320935:L140F;ENSP00000396887:L130F	ENSP00000320935:L140F	L	+	1	0	SLC2A4	7127875	0.030000	0.19436	0.989000	0.46669	0.603000	0.37013	0.233000	0.17911	2.721000	0.93114	0.655000	0.94253	CTT		0.592	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			21	19	0	0	0	1	0	21	19				
OR56A4	120793	broad.mit.edu	37	11	6023849	6023849	+	Missense_Mutation	SNP	C	C	T	rs183652867	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023849C>T	ENST00000330728.4	-	1	575	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.502													.|||	6	0.00119808	0.0	0.0	5008	,	,		22716	0.0		0.005	False		,,,				2504	0.001					ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(529-531)cGt>cAt		olfactory receptor, family 56, subfamily A, member 4		C	HIS/ARG	0,4402		0,0,2201	76.0	66.0	69.0		530	-0.9	1.0	11		69	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR56A4	NM_001005179.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	177/366	6023849	1,12993	2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023849C>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.530G>A	11.37:g.6023849C>T	ENSP00000328215:p.Arg177His						p.R177H	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	575	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	125					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.530G>A	CCDS31404.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.21	1.571819	0.28003	0.0	1.16E-4	ENSG00000183389	ENST00000330728	T	0.77489	-1.1	3.58	-0.865	0.10662	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37095	U	0.002259	T	0.79149	0.4397	M	0.92604	3.325	0.28275	N	0.924247	B	0.25743	0.133	B	0.27715	0.082	T	0.72077	-0.4399	10	0.72032	D	0.01	.	7.8108	0.29230	0.0:0.6465:0.1189:0.2346	.	125	Q8NGH8	O56A4_HUMAN	H	177	ENSP00000328215:R177H	ENSP00000328215:R177H	R	-	2	0	OR56A4	5980425	1.000000	0.71417	0.960000	0.40013	0.721000	0.41392	3.785000	0.55424	-0.646000	0.05452	-2.110000	0.00354	CGT		0.502	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		10	18	0	0	0	1	0	10	18				
CHRNA5	1138	broad.mit.edu	37	15	78882475	78882475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78882475C>T	ENST00000299565.5	+	5	942	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	248					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	TGTAATCAAGCGCCTGCCTCT	0.408																																						ENST00000299565.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						c.(742-744)Cgc>Tgc		cholinergic receptor, nicotinic, alpha 5 (neuronal)							127.0	130.0	129.0					15																	78882475		2196	4293	6489	SO:0001583	missense	1138				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78882475C>T		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.742C>T	15.37:g.78882475C>T	ENSP00000299565:p.Arg248Cys					CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	p.R248C	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN			5	942	+			248					Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	c.742C>T	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166947	0.57476	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.96830	-4.14	5.24	5.24	0.73138	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98750	1.0720	10	0.87932	D	0	.	19.184	0.93635	0.0:1.0:0.0:0.0	.	248	P30532	ACHA5_HUMAN	C	248;199	ENSP00000299565:R248C	ENSP00000299565:R248C	R	+	1	0	CHRNA5	76669530	1.000000	0.71417	0.589000	0.28718	0.287000	0.27160	6.114000	0.71560	2.599000	0.87857	0.557000	0.71058	CGC		0.408	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			39	59	0	0	0	1	0	39	59				
IMPDH1	3614	broad.mit.edu	37	7	128049358	128049358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128049358C>T	ENST00000338791.6	-	3	589	c.239G>A	c.(238-240)cGc>cAc	p.R80H	IMPDH1_ENST00000378717.4_Intron|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R80H|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R70H|IMPDH1_ENST00000348127.6_Intron	NM_000883.3	NP_000874.2			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CCTGCGAAGGCGATCCATCTG	0.562																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(238-240)cGc>cAc		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						91.0	85.0	87.0					7																	128049358		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128049358C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000338791.6:c.239G>A	7.37:g.128049358C>T	ENSP00000345096:p.Arg80His					IMPDH1_ENST00000354269.5_Missense_Mutation_p.R70H|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R80H|IMPDH1_ENST00000378717.4_Intron	p.R80H	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			3	589	-			0						Missense_Mutation	SNP	ENST00000338791.6	37	c.239G>A	CCDS34749.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534758	0.45073	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000354269	T;T;T	0.78707	-1.2;2.21;2.22	4.29	-2.18	0.07037	.	3.989050	0.00797	N	0.001386	T	0.58779	0.2146	N	0.08118	0	0.09310	N	0.999997	B;D;B	0.54047	0.0;0.964;0.0	B;B;B	0.42282	0.0;0.382;0.0	T	0.56517	-0.7966	10	0.72032	D	0.01	4.7775	4.3766	0.11274	0.0:0.2987:0.315:0.3863	.	80;70;80	C9JV30;Q5H9Q6;A4D0Z6	.;.;.	H	80;80;70	ENSP00000399400:R80H;ENSP00000345096:R80H;ENSP00000346219:R70H	ENSP00000345096:R80H	R	-	2	0	IMPDH1	127836594	0.000000	0.05858	0.000000	0.03702	0.348000	0.29142	-0.994000	0.03716	-0.323000	0.08602	0.555000	0.69702	CGC		0.562	IMPDH1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349458.1	NM_000883		11	23	0	0	0	1	0	11	23				
PKD2L1	9033	broad.mit.edu	37	10	102056783	102056783	+	Missense_Mutation	SNP	C	C	T	rs200855686		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102056783C>T	ENST00000318222.3	-	6	1521	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	PKD2L1_ENST00000338519.3_Missense_Mutation_p.R305H|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R380H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	380					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTGAGGTAGCGAAGCCGGTG	0.512																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1138-1140)cGc>cAc		polycystic kidney disease 2-like 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	101.0	106.0		1139	-8.5	0.2	10		106	0,8600		0,0,4300	no	missense	PKD2L1	NM_016112.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	380/806	102056783	1,13005	2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056783C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1139G>A	10.37:g.102056783C>T	ENSP00000325296:p.Arg380His					PKD2L1_ENST00000338519.3_Missense_Mutation_p.R305H|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R380H	p.R380H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	6	1521	-		Colorectal(252;0.117)	380					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1139G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	2.007	-0.428067	0.04701	2.27E-4	0.0	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.97831	-4.56;-4.56;-4.56	4.95	-8.46	0.00942	Polycystin cation channel, PKD1/PKD2 (1);	0.989056	0.08277	N	0.970495	D	0.93566	0.7946	N	0.21448	0.665	0.09310	N	1	B;B	0.15930	0.015;0.001	B;B	0.09377	0.004;0.002	T	0.76421	-0.2965	10	0.36615	T	0.2	-0.0352	18.4292	0.90619	0.0:0.7189:0.0:0.2811	.	333;380	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	H	305;380;380;378	ENSP00000345068:R305H;ENSP00000266049:R380H;ENSP00000325296:R380H	ENSP00000325296:R380H	R	-	2	0	PKD2L1	102046773	0.000000	0.05858	0.185000	0.23176	0.893000	0.52053	-0.524000	0.06222	-1.893000	0.01106	-1.036000	0.02392	CGC		0.512	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		16	24	0	0	0	1	0	16	24				
SPEF2	79925	broad.mit.edu	37	5	35654816	35654816	+	Silent	SNP	C	C	T	rs139014576		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35654816C>T	ENST00000356031.3	+	7	1120	c.966C>T	c.(964-966)caC>caT	p.H322H	SPEF2_ENST00000440995.2_Silent_p.H322H|SPEF2_ENST00000509059.1_Silent_p.H322H|SPEF2_ENST00000282469.6_Silent_p.H322H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	322					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATAGCCCACGAAGCACAAG	0.363																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(964-966)caC>caT		sperm flagellar 2		C	,	0,4406		0,0,2203	66.0	65.0	65.0		966,966	-7.3	1.0	5	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPEF2	NM_024867.3,NM_144722.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	322/1823,322/515	35654816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35654816C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.966C>T	5.37:g.35654816C>T						SPEF2_ENST00000509059.1_Silent_p.H322H|SPEF2_ENST00000356031.3_Silent_p.H322H|SPEF2_ENST00000282469.6_Silent_p.H322H	p.H322H			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	966	+	all_lung(31;7.56e-05)		322					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.966C>T	CCDS43309.1																																																																																				0.363	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		19	32	0	0	0	1	0	19	32				
FAT4	79633	broad.mit.edu	37	4	126336616	126336616	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336616C>T	ENST00000394329.3	+	5	6511	c.6498C>T	c.(6496-6498)aaC>aaT	p.N2166N	FAT4_ENST00000335110.5_Silent_p.N464N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2166	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGAAAACACACTTACTG	0.388																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6496-6498)aaC>aaT		FAT atypical cadherin 4							120.0	111.0	114.0					4																	126336616		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336616C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6498C>T	4.37:g.126336616C>T						FAT4_ENST00000335110.5_Silent_p.N464N	p.N2166N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6511	+			2166			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6498C>T	CCDS3732.3																																																																																				0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	90	0	0	0	1	0	7	90				
AFF4	27125	broad.mit.edu	37	5	132232115	132232115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132232115G>A	ENST00000265343.5	-	11	2586	c.2207C>T	c.(2206-2208)cCg>cTg	p.P736L	AFF4_ENST00000378595.3_Missense_Mutation_p.P736L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	736					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCTTGGGCGGCTCTGTTTC	0.453																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(2206-2208)cCg>cTg		AF4/FMR2 family, member 4							122.0	122.0	122.0					5																	132232115		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232115G>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2207C>T	5.37:g.132232115G>A	ENSP00000265343:p.Pro736Leu					AFF4_ENST00000378595.3_Missense_Mutation_p.P736L	p.P736L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2586	-		all_cancers(142;0.145)|Breast(839;0.198)	736					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2207C>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062740	0.36373	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.62941	-0.01;-0.01	4.9	4.9	0.64082	.	0.252116	0.40144	N	0.001165	T	0.43188	0.1236	L	0.39514	1.22	0.44275	D	0.997135	P;B	0.38280	0.625;0.197	B;B	0.24541	0.054;0.018	T	0.50276	-0.8847	10	0.59425	D	0.04	-1.7136	5.4511	0.16565	0.0784:0.1416:0.6336:0.1464	.	736;736	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	L	736	ENSP00000265343:P736L;ENSP00000367858:P736L	ENSP00000265343:P736L	P	-	2	0	AFF4	132260014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.528000	0.60580	2.417000	0.82017	0.563000	0.77884	CCG		0.453	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		43	54	0	0	0	1	0	43	54				
POLQ	10721	broad.mit.edu	37	3	121207592	121207592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121207592C>A	ENST00000264233.5	-	16	4314	c.4186G>T	c.(4186-4188)Ggt>Tgt	p.G1396C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1396					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATAGTACCTACAGTCTTA	0.418								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(4186-4188)Ggt>Tgt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							111.0	109.0	110.0					3																	121207592		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207592C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4186G>T	3.37:g.121207592C>A	ENSP00000264233:p.Gly1396Cys						p.G1396C	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4314	-			1396					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4186G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523717	0.44866	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.47528	0.84	6.01	4.22	0.49857	.	0.773532	0.11774	N	0.530841	T	0.33323	0.0859	N	0.14661	0.345	0.09310	N	1	P;P	0.41848	0.761;0.763	B;B	0.43445	0.24;0.42	T	0.11518	-1.0584	10	0.54805	T	0.06	.	6.2048	0.20595	0.0:0.7174:0.0:0.2826	.	1396;568	O75417;O75417-2	DPOLQ_HUMAN;.	C	1019;1396;1532	ENSP00000264233:G1396C	ENSP00000264233:G1396C	G	-	1	0	POLQ	122690282	0.001000	0.12720	0.003000	0.11579	0.304000	0.27724	0.555000	0.23422	1.553000	0.49476	-0.140000	0.14226	GGT		0.418	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		11	112	1	0	0.00829132	1	0.00869385	11	112				
SLC38A8	146167	broad.mit.edu	37	16	84050271	84050271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84050271C>T	ENST00000299709.3	-	8	1014	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	339					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGTCGGCCAGGGCGCTG	0.647																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1015-1017)Gcc>Acc		solute carrier family 38, member 8							45.0	49.0	47.0					16																	84050271		2200	4299	6499	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050271C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1015G>A	16.37:g.84050271C>T	ENSP00000299709:p.Ala339Thr						p.A339T	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			8	1014	-			339						Missense_Mutation	SNP	ENST00000299709.3	37	c.1015G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	0.645	-0.811718	0.02798	.	.	ENSG00000166558	ENST00000299709	T	0.02197	4.4	3.84	2.89	0.33648	.	1.054530	0.07386	N	0.888336	T	0.01592	0.0051	N	0.12182	0.205	0.27271	N	0.958355	B	0.09022	0.002	B	0.08055	0.003	T	0.45293	-0.9271	10	0.09843	T	0.71	.	7.9148	0.29812	0.0:0.7938:0.0:0.2062	.	339	A6NNN8	S38A8_HUMAN	T	339	ENSP00000299709:A339T	ENSP00000299709:A339T	A	-	1	0	SLC38A8	82607772	0.000000	0.05858	0.794000	0.32065	0.360000	0.29518	0.036000	0.13819	0.828000	0.34709	-0.455000	0.05494	GCC		0.647	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		13	30	0	0	0	1	0	13	30				
NPAT	4863	broad.mit.edu	37	11	108061207	108061207	+	Missense_Mutation	SNP	C	C	A	rs376331502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108061207C>A	ENST00000278612.8	-	5	416	c.311G>T	c.(310-312)aGg>aTg	p.R104M	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	104	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCCAGCAAACCTTGGGGAACT	0.348																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(310-312)aGg>aTg		nuclear protein, ataxia-telangiectasia locus							116.0	106.0	109.0					11																	108061207		1863	4115	5978	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108061207C>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.311G>T	11.37:g.108061207C>A	ENSP00000278612:p.Arg104Met						p.R104M	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	5	416	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	104			Interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.311G>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383282	0.61845	.	.	ENSG00000149308	ENST00000278612	T	0.03982	3.74	5.73	5.73	0.89815	.	0.177799	0.49305	D	0.000147	T	0.04318	0.0119	N	0.08118	0	0.31802	N	0.628275	P	0.38250	0.624	B	0.39738	0.308	T	0.21143	-1.0254	10	0.51188	T	0.08	-5.1796	16.6056	0.84827	0.0:1.0:0.0:0.0	.	104	Q14207	NPAT_HUMAN	M	104	ENSP00000278612:R104M	ENSP00000278612:R104M	R	-	2	0	NPAT	107566417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.319000	0.59197	2.688000	0.91661	0.650000	0.86243	AGG		0.348	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		4	40	1	0	0.000602214	1	0.000649039	4	40				
IGLV6-57	28778	broad.mit.edu	37	22	22550413	22550413	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22550413G>A	ENST00000390285.3	+	0	176									immunoglobulin lambda variable 6-57																		ACTCTGTGTCGGAGTCTCCGG	0.577											OREG0026353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390285.2																			0																				55.0	54.0	54.0					22																	22550413		2066	4217	6283			0							g.chr22:22550413G>A	Z73673		22q11.2	2012-02-08			ENSG00000211640	ENSG00000211640		"""Immunoglobulins / IGL locus"""	5927	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150996		22.37:g.22550413G>A			OREG0026353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757									0	176	+									RNA	SNP	ENST00000390285.3	37																																																																																						0.577	IGLV6-57-001	KNOWN	mRNA_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320861.3	NG_000002		4	9	0	0	0	1	0	4	9				
MPP2	4355	broad.mit.edu	37	17	41957259	41957259	+	Missense_Mutation	SNP	C	C	T	rs376898184		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41957259C>T	ENST00000461854.1	-	12	1401	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	MPP2_ENST00000518766.1_Missense_Mutation_p.R460H|MPP2_ENST00000523501.1_Missense_Mutation_p.R404H|MPP2_ENST00000269095.4_Missense_Mutation_p.R415H|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000536246.1_Missense_Mutation_p.R404H|MPP2_ENST00000520305.1_Missense_Mutation_p.R276H|MPP2_ENST00000377184.3_Missense_Mutation_p.R432H			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	439	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTCCAGGTAGCGCCCAGCACG	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1243-1245)cGc>cAc		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	181.0	116.0	138.0		1244	2.8	0.7	17		138	0,8600		0,0,4300	no	missense	MPP2	NM_005374.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	415/553	41957259	1,13005	2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41957259C>T		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1316G>A	17.37:g.41957259C>T	ENSP00000428286:p.Arg439His		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000518766.1_Missense_Mutation_p.R460H|MPP2_ENST00000523501.1_Missense_Mutation_p.R404H|MPP2_ENST00000461854.1_Missense_Mutation_p.R439H|MPP2_ENST00000520305.1_Missense_Mutation_p.R276H|MPP2_ENST00000377184.3_Missense_Mutation_p.R432H|MPP2_ENST00000536246.1_Missense_Mutation_p.R404H	p.R415H	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	11	1548	-		Breast(137;0.00314)	439			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1244G>A		.	.	.	.	.	.	.	.	.	.	c	11.54	1.669291	0.29604	2.27E-4	0.0	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.83	2.83	0.33086	.	.	.	.	.	T	0.36026	0.0952	L	0.56769	1.78	0.50632	D	0.999882	B;B	0.32573	0.376;0.206	B;B	0.27715	0.082;0.049	T	0.22836	-1.0205	9	0.72032	D	0.01	.	9.5424	0.39260	0.0:0.824:0.0:0.176	.	460;432	E7EV80;Q14168-3	.;.	H	432;415;439;276;404;404;460	ENSP00000366389:R432H;ENSP00000269095:R415H;ENSP00000428286:R439H;ENSP00000428136:R276H;ENSP00000430540:R404H;ENSP00000438012:R404H;ENSP00000428182:R460H	ENSP00000269095:R415H	R	-	2	0	MPP2	39312785	1.000000	0.71417	0.660000	0.29694	0.023000	0.10783	6.047000	0.71038	0.569000	0.29329	-0.244000	0.11960	CGC		0.627	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		30	37	0	0	0	1	0	30	37				
POLR1A	25885	broad.mit.edu	37	2	86297353	86297353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86297353G>A	ENST00000263857.6	-	13	2032	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R552*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	552					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGCTGTCGGTTCAGTAGC	0.582																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1654-1656)Cga>Tga		polymerase (RNA) I polypeptide A, 194kDa							78.0	85.0	82.0					2																	86297353		2136	4231	6367	SO:0001587	stop_gained	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86297353G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1654C>T	2.37:g.86297353G>A	ENSP00000263857:p.Arg552*					POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R552*	p.R552*			O95602	RPA1_HUMAN			13	2032	-			552					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	37	c.1654C>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	42	9.799297	0.99267	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0344	18.5668	0.91119	0.0:0.0:1.0:0.0	.	.	.	.	X	552	.	ENSP00000263857:R552X	R	-	1	2	POLR1A	86150864	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.160000	0.77495	2.479000	0.83701	0.655000	0.94253	CGA		0.582	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		13	21	0	0	0	1	0	13	21				
THAP4	51078	broad.mit.edu	37	2	242542409	242542409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242542409C>T	ENST00000407315.1	-	4	1917	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T	THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402136.1_Missense_Mutation_p.A84T|THAP4_ENST00000402545.1_Missense_Mutation_p.A84T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	496							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTGACAAAGGCCACCTTGTTG	0.632																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1486-1488)Gcc>Acc		THAP domain containing 4							133.0	104.0	114.0					2																	242542409		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242542409C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1486G>A	2.37:g.242542409C>T	ENSP00000385006:p.Ala496Thr					THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402545.1_Missense_Mutation_p.A84T|THAP4_ENST00000402136.1_Missense_Mutation_p.A84T	p.A496T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	4	1917	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	496					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.1486G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	c	34	5.304580	0.95601	.	.	ENSG00000176946	ENST00000402136;ENST00000407315;ENST00000402545	D	0.96300	-3.97	5.34	5.34	0.76211	Domain of unknown function DUF1794 (1);Calycin-like (1);	0.331895	0.24642	N	0.036786	D	0.97396	0.9148	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.974	D	0.97311	0.9937	10	0.44086	T	0.13	-31.8568	19.0447	0.93015	0.0:1.0:0.0:0.0	.	496;84	Q8WY91;Q8WY91-2	THAP4_HUMAN;.	T	84;496;84	ENSP00000385006:A496T	ENSP00000385931:A84T	A	-	1	0	THAP4	242191082	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.786000	0.75094	2.510000	0.84645	0.591000	0.81541	GCC		0.632	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		23	33	0	0	0	1	0	23	33				
IGSF11	152404	broad.mit.edu	37	3	118649028	118649028	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118649028G>A	ENST00000393775.2	-	2	452	c.147C>T	c.(145-147)agC>agT	p.S49S	IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000489689.1_Silent_p.S49S|IGSF11_ENST00000441144.2_Silent_p.S48S|IGSF11_ENST00000491903.1_Silent_p.S49S|IGSF11_ENST00000354673.2_Silent_p.S48S|IGSF11_ENST00000425327.2_Silent_p.S48S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	49	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGGCAGCGCTGGTAGTGA	0.542																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(142-144)agC>agT		immunoglobulin superfamily, member 11							137.0	127.0	130.0					3																	118649028		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118649028G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.147C>T	3.37:g.118649028G>A						IGSF11_ENST00000491903.1_Silent_p.S49S|IGSF11_ENST00000425327.2_Silent_p.S48S|IGSF11_ENST00000393775.2_Silent_p.S49S|IGSF11_ENST00000441144.2_Silent_p.S48S|IGSF11_ENST00000489689.1_Silent_p.S49S|IGSF11_ENST00000459718.1_5'UTR	p.S48S	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			4	524	-			49			Ig-like V-type.		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.144C>T	CCDS46891.1																																																																																				0.542	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			36	63	0	0	0	1	0	36	63				
SENP6	26054	broad.mit.edu	37	6	76343307	76343307	+	Missense_Mutation	SNP	G	G	A	rs375205740		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343307G>A	ENST00000447266.2	+	4	696	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SENP6_ENST00000327284.8_Missense_Mutation_p.R73Q|SENP6_ENST00000370010.2_Missense_Mutation_p.R73Q|SENP6_ENST00000370014.3_Missense_Mutation_p.R73Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	73					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTAAATCGTCGATCTGAAATT	0.299																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(217-219)cGa>cAa		SUMO1/sentrin specific peptidase 6		G	GLN/ARG,GLN/ARG	0,3620		0,0,1810	82.0	80.0	81.0		218,218	2.2	1.0	6		81	2,8126		0,2,4062	no	missense,missense	SENP6	NM_001100409.1,NM_015571.2	43,43	0,2,5872	AA,AG,GG		0.0246,0.0,0.017	benign,benign	73/1106,73/1113	76343307	2,11746	1810	4064	5874	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76343307G>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.218G>A	6.37:g.76343307G>A	ENSP00000402527:p.Arg73Gln					SENP6_ENST00000447266.2_Missense_Mutation_p.R73Q|SENP6_ENST00000327284.8_Missense_Mutation_p.R73Q|SENP6_ENST00000370010.2_Missense_Mutation_p.R73Q	p.R73Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			4	837	+		all_hematologic(105;0.189)	73					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.218G>A	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249173	0.39797	0.0	2.46E-4	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266	T;T;T;T	0.32272	2.66;2.66;1.46;2.66	5.28	2.15	0.27550	.	0.232813	0.33732	N	0.004618	T	0.06371	0.0164	N	0.16307	0.4	0.80722	D	1	B;B;B	0.18968	0.014;0.008;0.032	B;B;B	0.12837	0.005;0.002;0.008	T	0.16571	-1.0398	10	0.42905	T	0.14	-2.152	5.3587	0.16075	0.1315:0.3738:0.4947:0.0	.	73;73;73	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	Q	73	ENSP00000359027:R73Q;ENSP00000359031:R73Q;ENSP00000321820:R73Q;ENSP00000402527:R73Q	ENSP00000321820:R73Q	R	+	2	0	SENP6	76400027	1.000000	0.71417	0.954000	0.39281	0.815000	0.46073	1.515000	0.35845	0.092000	0.17331	0.655000	0.94253	CGA		0.299	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		4	46	0	0	0	1	0	4	46				
SETD2	29072	broad.mit.edu	37	3	47163775	47163775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163775G>T	ENST00000409792.3	-	3	2393	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	784					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTGCAGCAAGAAACCCTCGT	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2350-2352)tCt>tAt		SET domain containing 2							139.0	133.0	135.0					3																	47163775		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163775G>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2351C>A	3.37:g.47163775G>T	ENSP00000386759:p.Ser784Tyr						p.S784Y	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2393	-		Acute lymphoblastic leukemia(5;0.0169)	784					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2351C>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453639	0.63290	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89343	-2.5;1.35	5.18	5.18	0.71444	.	0.222248	0.32068	N	0.006633	T	0.79941	0.4533	N	0.19112	0.55	0.27487	N	0.952414	P;P	0.45902	0.868;0.868	B;B	0.36666	0.23;0.168	T	0.78074	-0.2346	10	0.66056	D	0.02	.	13.6466	0.62286	0.0:0.0:0.8462:0.1538	.	784;784	F2Z317;Q9BYW2	.;SETD2_HUMAN	Y	784;784;784;740	ENSP00000386759:S784Y;ENSP00000416401:S740Y	ENSP00000386759:S784Y	S	-	2	0	SETD2	47138779	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.084000	0.41625	2.679000	0.91253	0.655000	0.94253	TCT		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	122	1	0	1.52009e-12	1	1.91418e-12	16	122				
VEGFA	7422	broad.mit.edu	37	6	43749754	43749754	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43749754A>G	ENST00000523873.1	+	7	645	c.607A>G	c.(607-609)Aaa>Gaa	p.K203E	VEGFA_ENST00000372067.3_Missense_Mutation_p.K342E|VEGFA_ENST00000372055.4_Missense_Mutation_p.K383E|VEGFA_ENST00000230480.6_Missense_Mutation_p.K134E|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000417285.2_Missense_Mutation_p.K342E|VEGFA_ENST00000518689.1_Missense_Mutation_p.K180E|VEGFA_ENST00000413642.3_Missense_Mutation_p.K360E|VEGFA_ENST00000518824.1_Missense_Mutation_p.K162E|VEGFA_ENST00000425836.2_Missense_Mutation_p.K366E|VEGFA_ENST00000523950.1_Missense_Mutation_p.K162E|VEGFA_ENST00000523125.1_Missense_Mutation_p.K162E|VEGFA_ENST00000482630.2_Missense_Mutation_p.K342E|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.K186E|VEGFA_ENST00000324450.6_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	203					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	GCAGACGTGTAAATGTTCCTG	0.493																																						ENST00000372067.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(1024-1026)Aaa>Gaa		vascular endothelial growth factor A	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						107.0	95.0	99.0					6																	43749754		2203	4300	6503	SO:0001583	missense	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43749754A>G	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.607A>G	6.37:g.43749754A>G	ENSP00000430479:p.Lys203Glu					VEGFA_ENST00000518824.1_Missense_Mutation_p.K162E|VEGFA_ENST00000230480.6_Missense_Mutation_p.K134E|VEGFA_ENST00000372055.4_Missense_Mutation_p.K383E|VEGFA_ENST00000518689.1_Missense_Mutation_p.K180E|VEGFA_ENST00000425836.2_Missense_Mutation_p.K366E|VEGFA_ENST00000523873.1_Missense_Mutation_p.K203E|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.K186E|VEGFA_ENST00000482630.2_Missense_Mutation_p.K342E|VEGFA_ENST00000523950.1_Missense_Mutation_p.K162E|VEGFA_ENST00000413642.3_Missense_Mutation_p.K360E|VEGFA_ENST00000417285.2_Missense_Mutation_p.K342E|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523125.1_Missense_Mutation_p.K162E	p.K342E	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		6	1518	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		203					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.1024A>G	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	9.848	1.192987	0.21954	.	.	ENSG00000112715	ENST00000372067;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	5.83	5.83	0.93111	.	0.100378	0.64402	D	0.000002	T	0.58221	0.2107	L	0.34521	1.04	0.53688	D	0.999974	D;P;D;D;P	0.76494	0.994;0.664;0.994;0.999;0.537	D;P;D;D;P	0.80764	0.945;0.784;0.925;0.994;0.493	T	0.60747	-0.7202	9	0.42905	T	0.14	-0.1278	15.3821	0.74664	1.0:0.0:0.0:0.0	.	162;383;180;366;342	P15692-8;P15692-14;P15692-3;P15692-13;P15692-11	.;.;.;.;.	E	342;342;360;383;342;366;186;203;162;180;162;162;134;82	.	ENSP00000230480:K134E	K	+	1	0	VEGFA	43857732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.622000	0.67750	2.235000	0.73313	0.533000	0.62120	AAA		0.493	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		20	28	0	0	0	1	0	20	28				
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128409143C>T	ENST00000249364.4	+	7	972	c.870C>T	c.(868-870)atC>atT	p.I290I	CALU_ENST00000542996.2_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I|CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000535011.2_Missense_Mutation_p.R224C|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000535623.1_3'UTR	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	290	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423																																						ENST00000535011.2																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(670-672)Cgt>Tgt		calumenin							128.0	115.0	120.0					7																	128409143		2203	4300	6503	SO:0001819	synonymous_variant	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128409143C>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.870C>T	7.37:g.128409143C>T						CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000249364.4_Silent_p.I290I|CALU_ENST00000449187.2_Silent_p.I290I|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000542996.2_Silent_p.I298I	p.R224C	NM_001199673.1	NP_001186602.1	O43852	CALU_HUMAN			6	822	+			0					B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.670C>T	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284735	0.40394	.	.	ENSG00000128595	ENST00000535011;ENST00000493278	T	0.14516	2.5	5.27	-0.305	0.12784	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28490	-1.0042	5	.	.	.	-5.7934	3.0456	0.06152	0.3462:0.3453:0.0:0.3085	.	.	.	.	C	224;122	ENSP00000442110:R224C	.	R	+	1	0	CALU	128196379	0.001000	0.12720	0.999000	0.59377	0.971000	0.66376	-1.629000	0.02029	0.016000	0.14998	-0.290000	0.09829	CGT		0.423	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		8	36	0	0	0	1	0	8	36				
IKZF5	64376	broad.mit.edu	37	10	124753591	124753591	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124753591C>A	ENST00000368886.5	-	5	1285	c.965G>T	c.(964-966)aGg>aTg	p.R322M	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ACTATAGTTCCTTTGACTATG	0.577																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(964-966)aGg>aTg		IKAROS family zinc finger 5 (Pegasus)							97.0	101.0	100.0					10																	124753591		2046	4198	6244	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124753591C>A	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.965G>T	10.37:g.124753591C>A	ENSP00000357881:p.Arg322Met					PSTK_ENST00000497219.1_Intron	p.R322M	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	1285	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	322					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.965G>T	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328785	0.81690	.	.	ENSG00000095574	ENST00000368886	T	0.05513	3.43	6.03	6.03	0.97812	.	0.038686	0.85682	D	0.000000	T	0.09686	0.0238	N	0.24115	0.695	0.80722	D	1	P	0.46277	0.875	P	0.46975	0.533	T	0.05903	-1.0857	10	0.51188	T	0.08	-34.4959	20.5568	0.99304	0.0:1.0:0.0:0.0	.	322	Q9H5V7	IKZF5_HUMAN	M	322	ENSP00000357881:R322M	ENSP00000357881:R322M	R	-	2	0	IKZF5	124743581	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.441000	0.80485	2.861000	0.98227	0.655000	0.94253	AGG		0.577	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		4	96	1	0	0.00198382	1	0.00210581	4	96				
C15orf57	90416	broad.mit.edu	37	15	40855059	40855059	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40855059G>A	ENST00000358005.3	-	2	429	c.156C>T	c.(154-156)ggC>ggT	p.G52G	C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_Silent_p.G52G|C15orf57_ENST00000558871.1_Silent_p.G52G|C15orf57_ENST00000558750.1_Silent_p.G61G|C15orf57_ENST00000416810.2_Silent_p.G52G|C15orf57_ENST00000558113.1_Silent_p.G52G|C15orf57_ENST00000559911.1_Silent_p.G52G|C15orf57_ENST00000560305.1_Silent_p.G52G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	52										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						CCTCCCTCTGGCCTTCACCTT	0.493																																						ENST00000358005.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						c.(154-156)ggC>ggT		chromosome 15 open reading frame 57							161.0	158.0	159.0					15																	40855059		2203	4300	6503	SO:0001819	synonymous_variant	90416							g.chr15:40855059G>A	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.156C>T	15.37:g.40855059G>A						C15orf57_ENST00000561011.1_Silent_p.G52G|C15orf57_ENST00000560305.1_Silent_p.G52G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000416810.2_Silent_p.G52G|C15orf57_ENST00000558871.1_Silent_p.G52G|C15orf57_ENST00000558113.1_Silent_p.G52G|C15orf57_ENST00000559911.1_Silent_p.G52G|C15orf57_ENST00000558750.1_Silent_p.G61G	p.G52G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN			2	429	-			52					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Silent	SNP	ENST00000358005.3	37	c.156C>T	CCDS10060.1																																																																																				0.493	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		48	85	0	0	0	1	0	48	85				
SART3	9733	broad.mit.edu	37	12	108920130	108920130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108920130C>T	ENST00000228284.3	-	16	2350	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	SART3_ENST00000431469.2_Missense_Mutation_p.V670I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	706	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTGACAAAGACGGTGATGCTG	0.602									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(2116-2118)Gtc>Atc		squamous cell carcinoma antigen recognized by T cells 3							110.0	86.0	94.0					12																	108920130		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108920130C>T	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2116G>A	12.37:g.108920130C>T	ENSP00000228284:p.Val706Ile					SART3_ENST00000431469.2_Missense_Mutation_p.V670I	p.V706I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			16	2350	-			706			RRM 1.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.2116G>A	CCDS9117.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.886793|2.886793	0.51908|0.51908	.|.	.|.	ENSG00000075856|ENSG00000075856	ENST00000412617|ENST00000228284;ENST00000431469;ENST00000546815	.|T;T;T	.|0.42513	.|3.28;2.47;0.97	5.7|5.7	4.82|4.82	0.62117|0.62117	.|RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50531|0.50531	0.1621|0.1621	N|N	0.25992|0.25992	0.78|0.78	0.80722|0.80722	D|D	1|1	B|D;D;D	0.10296|0.89917	0.003|1.0;1.0;1.0	B|D;D;D	0.08055|0.91635	0.003|0.998;0.999;0.999	T|T	0.47328|0.47328	-0.9126|-0.9126	8|10	0.87932|0.33940	D|T	0|0.23	-33.8715|-33.8715	14.6579|14.6579	0.68847|0.68847	0.0:0.9304:0.0:0.0696|0.0:0.9304:0.0:0.0696	.|.	652|724;670;706	E7EMI4|F8VV04;B7ZKM0;Q15020	.|.;.;SART3_HUMAN	H|I	652|706;670;724	.|ENSP00000228284:V706I;ENSP00000414453:V670I;ENSP00000449386:V724I	ENSP00000400292:R652H|ENSP00000228284:V706I	R|V	-|-	2|1	0|0	SART3|SART3	107444260|107444260	1.000000|1.000000	0.71417|0.71417	0.169000|0.169000	0.22859|0.22859	0.021000|0.021000	0.10359|0.10359	5.785000|5.785000	0.68998|0.68998	1.419000|1.419000	0.47118|0.47118	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC		0.602	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			20	23	0	0	0	1	0	20	23				
ASGR1	432	broad.mit.edu	37	17	7077130	7077130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7077130C>T	ENST00000269299.3	-	9	1123	c.724G>A	c.(724-726)Gac>Aac	p.D242N	ASGR1_ENST00000380920.4_Missense_Mutation_p.D141N|ASGR1_ENST00000574388.1_Missense_Mutation_p.D203N	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	242	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TACCAGTCGTCCGGCTGCTCC	0.711																																						ENST00000574388.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						c.(607-609)Gac>Aac		asialoglycoprotein receptor 1							37.0	42.0	41.0					17																	7077130		2201	4292	6493	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7077130C>T		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.724G>A	17.37:g.7077130C>T	ENSP00000269299:p.Asp242Asn					ASGR1_ENST00000380920.4_Missense_Mutation_p.D141N|ASGR1_ENST00000269299.3_Missense_Mutation_p.D242N	p.D203N			P07306	ASGR1_HUMAN			7	1399	-			242			C-type lectin.		I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.607G>A	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264323	0.80358	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.16743	2.32	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000029	T	0.31575	0.0801	L	0.43923	1.385	0.80722	D	1	D	0.69078	0.997	P	0.61275	0.886	T	0.01508	-1.1337	10	0.87932	D	0	.	15.9161	0.79521	0.0:1.0:0.0:0.0	.	242	P07306	ASGR1_HUMAN	N	242;203	ENSP00000269299:D242N	ENSP00000269299:D242N	D	-	1	0	ASGR1	7017854	0.995000	0.38212	0.169000	0.22859	0.023000	0.10783	3.911000	0.56378	2.698000	0.92095	0.609000	0.83330	GAC		0.711	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		21	50	0	0	0	1	0	21	50				
CDYL	9425	broad.mit.edu	37	6	4952499	4952499	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4952499G>A	ENST00000328908.5	+	8	1625		c.e8-1		CDYL_ENST00000343762.5_Splice_Site|CDYL_ENST00000397588.3_Splice_Site|CDYL_ENST00000472453.1_Splice_Site|CDYL_ENST00000449732.2_Splice_Site			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTTCCTTGCAGGCAAACGAGA	0.562																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.e8-1		chromodomain protein, Y-like							75.0	66.0	69.0					6																	4952499		2203	4300	6503	SO:0001630	splice_region_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4952499G>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1495-1G>A	6.37:g.4952499G>A						CDYL_ENST00000472453.1_Splice_Site|CDYL_ENST00000343762.5_Splice_Site|CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000397588.3_Splice_Site				Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	8	1625	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)						A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Splice_Site	SNP	ENST00000328908.5	37			.	.	.	.	.	.	.	.	.	.	G	17.26	3.343372	0.61073	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7627	0.88469	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDYL	4897498	1.000000	0.71417	0.999000	0.59377	0.456000	0.32438	9.640000	0.98453	2.419000	0.82065	0.467000	0.42956	.		0.562	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	Intron	4	28	0	0	0	1	0	4	28				
RXFP3	51289	broad.mit.edu	37	5	33937967	33937967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937967C>T	ENST00000330120.3	+	1	1477	c.1122C>T	c.(1120-1122)agC>agT	p.S374S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCCCTGTGAGCGTGTGCCTAG	0.622																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1120-1122)agC>agT		relaxin/insulin-like family peptide receptor 3							109.0	109.0	109.0					5																	33937967		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937967C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1122C>T	5.37:g.33937967C>T							p.S374S	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1477	+			374					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.1122C>T	CCDS3900.1																																																																																				0.622	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		4	60	0	0	0	1	0	4	60				
EFTUD1	79631	broad.mit.edu	37	15	82443885	82443885	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82443885G>A	ENST00000268206.7	-	18	3078	c.2910C>T	c.(2908-2910)cgC>cgT	p.R970R	EFTUD1_ENST00000359445.3_Silent_p.R919R	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	970					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAGTGCATAGCGACATGCTT	0.473																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2908-2910)cgC>cgT		elongation factor Tu GTP binding domain containing 1							140.0	137.0	138.0					15																	82443885		2059	4215	6274	SO:0001819	synonymous_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82443885G>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2910C>T	15.37:g.82443885G>A						EFTUD1_ENST00000359445.3_Silent_p.R919R	p.R970R	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			18	3078	-			970					A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.2910C>T	CCDS42071.1																																																																																				0.473	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		45	62	0	0	0	1	0	45	62				
CHID1	66005	broad.mit.edu	37	11	883219	883219	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:883219G>T	ENST00000449825.1	-	10	1244	c.888C>A	c.(886-888)ctC>ctA	p.L296L	CHID1_ENST00000323578.8_Silent_p.L296L|CHID1_ENST00000323541.7_Silent_p.L326L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000429789.2_Silent_p.L265L|CHID1_ENST00000528581.1_Silent_p.L321L|CHID1_ENST00000336845.5_Silent_p.L321L|CHID1_ENST00000454838.2_Silent_p.L321L|CHID1_ENST00000436108.2_Silent_p.L296L	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	296					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TGAGCCCCAGGAGGATTTTGC	0.632																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(886-888)ctC>ctA		chitinase domain containing 1							125.0	116.0	119.0					11																	883219		2203	4299	6502	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:883219G>T	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.888C>A	11.37:g.883219G>T						CHID1_ENST00000323541.7_Silent_p.L326L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000528581.1_Silent_p.L321L|CHID1_ENST00000454838.2_Silent_p.L321L|CHID1_ENST00000336845.5_Silent_p.L321L|CHID1_ENST00000436108.2_Silent_p.L296L|CHID1_ENST00000323578.8_Silent_p.L296L|CHID1_ENST00000429789.2_Silent_p.L265L	p.L296L	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1244	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	296					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	c.888C>A	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506603	0.26949	.	.	ENSG00000177830	ENST00000529539	.	.	.	5.14	-5.17	0.02849	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57376	-0.7822	4	.	.	.	-27.8913	11.5778	0.50873	0.2089:0.5638:0.2273:0.0	.	.	.	.	T	11	.	.	P	-	1	0	CHID1	873219	0.150000	0.22732	0.970000	0.41538	0.956000	0.61745	-0.902000	0.04088	-0.724000	0.04908	0.563000	0.77884	CCT		0.632	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		6	147	1	0	2.0095e-06	1	2.31757e-06	6	147				
TEX2	55852	broad.mit.edu	37	17	62270986	62270986	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62270986T>C	ENST00000583097.1	-	4	2281	c.2109A>G	c.(2107-2109)agA>agG	p.R703R	TEX2_ENST00000584379.1_Silent_p.R703R|TEX2_ENST00000258991.3_Silent_p.R703R			Q8IWB9	TEX2_HUMAN	testis expressed 2	703					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCAGAATAAATCTCCTAAACC	0.453																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2107-2109)agA>agG		testis expressed 2							166.0	163.0	164.0					17																	62270986		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62270986T>C	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2109A>G	17.37:g.62270986T>C						TEX2_ENST00000583097.1_Silent_p.R703R|TEX2_ENST00000584379.1_Silent_p.R703R	p.R703R			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	4	2193	-			703					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2109A>G																																																																																					0.453	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		9	173	0	0	0	1	0	9	173				
GBF1	8729	broad.mit.edu	37	10	104139345	104139345	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104139345A>G	ENST00000369983.3	+	35	4970	c.4710A>G	c.(4708-4710)cgA>cgG	p.R1570R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1570					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATCTGCAGCGAGCACTACTTG	0.517																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4708-4710)cgA>cgG		golgi brefeldin A resistant guanine nucleotide exchange factor 1							180.0	170.0	174.0					10																	104139345		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104139345A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4710A>G	10.37:g.104139345A>G							p.R1570R	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	35	4970	+		Colorectal(252;0.0236)	1570					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.4710A>G	CCDS7533.1																																																																																				0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			6	172	0	0	0	1	0	6	172				
BZW2	28969	broad.mit.edu	37	7	16737688	16737688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16737688C>A	ENST00000433922.2	+	10	1163	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	BZW2_ENST00000407633.1_Missense_Mutation_p.L135M|BZW2_ENST00000452975.2_3'UTR|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Missense_Mutation_p.L329M|BZW2_ENST00000405202.1_Missense_Mutation_p.L253M	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	329	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TGCTCCCCTGCTGGCCGTGTT	0.507																																						ENST00000433922.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(985-987)Ctg>Atg		basic leucine zipper and W2 domains 2							83.0	80.0	81.0					7																	16737688		2203	4300	6503	SO:0001583	missense	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16737688C>A	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.985C>A	7.37:g.16737688C>A	ENSP00000397249:p.Leu329Met					BZW2_ENST00000405202.1_Missense_Mutation_p.L253M|BZW2_ENST00000258761.3_Missense_Mutation_p.L329M|BZW2_ENST00000452975.2_3'UTR|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000407633.1_Missense_Mutation_p.L135M	p.L329M	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	10	1163	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		329			W2.		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	c.985C>A	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889270	0.72524	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	6.17	5.3	0.74995	eIF4-gamma/eIF5/eIF2-epsilon (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.64402	D	0.000019	D	0.94095	0.8107	M	0.91510	3.215	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	D	0.94145	0.7400	10	0.45353	T	0.12	-1.8162	11.8485	0.52397	0.0:0.8664:0.0:0.1336	.	329;329	E7ETZ4;Q9Y6E2	.;BZW2_HUMAN	M	329;329;329;253;135	ENSP00000403481:L329M;ENSP00000258761:L329M;ENSP00000397249:L329M;ENSP00000385577:L253M;ENSP00000384617:L135M	ENSP00000258761:L329M	L	+	1	2	BZW2	16704213	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	3.354000	0.52254	1.627000	0.50400	0.655000	0.94253	CTG		0.507	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		6	85	1	0	8.12818e-05	1	8.99451e-05	6	85				
DOCK6	57572	broad.mit.edu	37	19	11338101	11338101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11338101C>T	ENST00000294618.7	-	24	2878	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R295H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	956					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R956H(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCAGCTTGCGGGGTGTGTC	0.632																																						ENST00000294618.7																			1	Substitution - Missense(1)	p.R956H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(2866-2868)cGc>cAc		dedicator of cytokinesis 6							28.0	33.0	31.0					19																	11338101		2083	4224	6307	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11338101C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2867G>A	19.37:g.11338101C>T	ENSP00000294618:p.Arg956His					DOCK6_ENST00000319867.7_Missense_Mutation_p.R295H	p.R956H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			24	2878	-			956					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.2867G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335294	0.95758	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.28666	1.6;1.6	4.33	4.33	0.51752	.	0.136126	0.48286	D	0.000188	T	0.63070	0.2480	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73452	-0.3978	10	0.87932	D	0	-22.3278	14.3234	0.66502	0.0:1.0:0.0:0.0	.	295;956	C9IZV6;Q96HP0	.;DOCK6_HUMAN	H	956;295	ENSP00000294618:R956H;ENSP00000321556:R295H	ENSP00000294618:R956H	R	-	2	0	DOCK6	11199101	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.315000	0.78998	1.941000	0.56285	0.561000	0.74099	CGC		0.632	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		5	7	0	0	0	1	0	5	7				
MYO15A	51168	broad.mit.edu	37	17	18023596	18023596	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023596G>T	ENST00000205890.5	+	2	1820	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	494					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAAGCTGGAGGTGCCCCTGC	0.632																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1480-1482)gaG>gaT		myosin XVA							38.0	46.0	43.0					17																	18023596		2048	4182	6230	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023596G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1482G>T	17.37:g.18023596G>T	ENSP00000205890:p.Glu494Asp						p.E494D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1820	+	all_neural(463;0.228)		494			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1482G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	4.900	0.167228	0.09339	.	.	ENSG00000091536	ENST00000205890	T	0.28666	1.6	5.1	-10.2	0.00374	.	.	.	.	.	T	0.10337	0.0253	N	0.08118	0	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.14309	-1.0477	9	0.30854	T	0.27	.	6.134	0.20221	0.0628:0.4269:0.238:0.2723	.	494	Q9UKN7	MYO15_HUMAN	D	494	ENSP00000205890:E494D	ENSP00000205890:E494D	E	+	3	2	MYO15A	17964321	0.060000	0.20803	0.813000	0.32504	0.980000	0.70556	-1.056000	0.03489	-1.236000	0.02542	0.561000	0.74099	GAG		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	24	1	0	1.58986e-06	1	1.84011e-06	9	24				
MPP2	4355	broad.mit.edu	37	17	41955231	41955231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41955231C>A	ENST00000461854.1	-	14	1760	c.1675G>T	c.(1675-1677)Gcc>Tcc	p.A559S	MPP2_ENST00000518766.1_Missense_Mutation_p.A580S|MPP2_ENST00000523501.1_Missense_Mutation_p.A524S|MPP2_ENST00000269095.4_Missense_Mutation_p.A535S|MPP2_ENST00000536246.1_Missense_Mutation_p.A524S|MPP2_ENST00000520305.1_Missense_Mutation_p.A396S|MPP2_ENST00000377184.3_Missense_Mutation_p.A552S			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	559	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TTCTCCATGGCTGTCTGGAGC	0.592																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1603-1605)Gcc>Tcc		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							104.0	93.0	97.0					17																	41955231		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41955231C>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1675G>T	17.37:g.41955231C>A	ENSP00000428286:p.Ala559Ser					MPP2_ENST00000518766.1_Missense_Mutation_p.A580S|MPP2_ENST00000523501.1_Missense_Mutation_p.A524S|MPP2_ENST00000461854.1_Missense_Mutation_p.A559S|MPP2_ENST00000520305.1_Missense_Mutation_p.A396S|MPP2_ENST00000377184.3_Missense_Mutation_p.A552S|MPP2_ENST00000536246.1_Missense_Mutation_p.A524S	p.A535S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	13	1907	-		Breast(137;0.00314)	559			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1603G>T		.	.	.	.	.	.	.	.	.	.	c	33	5.201991	0.94997	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.35	5.35	0.76521	.	.	.	.	.	T	0.56499	0.1989	M	0.68317	2.08	0.80722	D	1	P;P	0.50443	0.935;0.799	P;P	0.53760	0.734;0.615	T	0.59679	-0.7409	9	0.62326	D	0.03	.	16.648	0.85181	0.0:1.0:0.0:0.0	.	580;552	E7EV80;Q14168-3	.;.	S	552;535;559;396;524;524;580	ENSP00000366389:A552S;ENSP00000269095:A535S;ENSP00000428286:A559S;ENSP00000428136:A396S;ENSP00000430540:A524S;ENSP00000438012:A524S;ENSP00000428182:A580S	ENSP00000269095:A535S	A	-	1	0	MPP2	39310757	1.000000	0.71417	0.954000	0.39281	0.959000	0.62525	5.830000	0.69324	2.521000	0.84997	0.555000	0.69702	GCC		0.592	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		33	52	1	0	2.42023e-17	1	3.13592e-17	33	52				
PFKFB1	5207	broad.mit.edu	37	X	54960307	54960307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54960307C>T	ENST00000375006.3	-	13	1373	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E235K|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E370K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	435	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TAGATGGATTCCACTTTGCAG	0.567																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(1303-1305)Gaa>Aaa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							88.0	63.0	72.0					X																	54960307		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54960307C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1303G>A	X.37:g.54960307C>T	ENSP00000364145:p.Glu435Lys					PFKFB1_ENST00000374992.2_Missense_Mutation_p.E235K|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E370K	p.E435K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			13	1373	-			435			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.1303G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277262	0.59758	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	L	0.54863	1.705	0.80722	D	1	P;P;P	0.43169	0.8;0.679;0.458	B;B;B	0.34652	0.104;0.187;0.117	T	0.60332	-0.7284	9	0.59425	D	0.04	-14.6748	15.1116	0.72362	0.0:1.0:0.0:0.0	.	370;235;435	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	K	435;370;235	.	ENSP00000364131:E235K	E	-	1	0	PFKFB1	54977032	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.538000	0.82048	1.886000	0.54624	0.525000	0.51046	GAA		0.567	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			7	16	0	0	0	1	0	7	16				
MECP2	4204	broad.mit.edu	37	X	153363099	153363099	+	5'UTR	SNP	C	C	T	rs398123566|rs587783129		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153363099C>T	ENST00000303391.6	-	0	113				MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000453960.2_Silent_p.A8A	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCGCTCGGCgcggcggcgg	0.776																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(22-24)gcG>gcA		methyl CpG binding protein 2 (Rett syndrome)							4.0	5.0	5.0					X																	153363099		953	2386	3339	SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363099C>T	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-137G>A	X.37:g.153363099C>T						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.A8A	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	78	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.24G>A	CCDS14741.1																																																																																				0.776	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		3	3	0	0	0	1	0	3	3				
ZC3H12C	85463	broad.mit.edu	37	11	110023742	110023742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110023742C>T	ENST00000278590.3	+	3	923	c.872C>T	c.(871-873)gCt>gTt	p.A291V	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A292V|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.A260V	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	291							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTGTTCCTGCTTGGAGGAAA	0.438																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(778-780)gCt>gTt		zinc finger CCCH-type containing 12C							54.0	51.0	52.0					11																	110023742		1859	4094	5953	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110023742C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.872C>T	11.37:g.110023742C>T	ENSP00000278590:p.Ala291Val					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A292V|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A291V	p.A260V			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	2	1660	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	291					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.779C>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603815	0.96626	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.43688	0.94;0.94;0.94	5.86	5.86	0.93980	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.58521	-0.7622	10	0.59425	D	0.04	-20.9918	20.1864	0.98220	0.0:1.0:0.0:0.0	.	292;291;291	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	V	291;292;260	ENSP00000278590:A291V;ENSP00000431821:A292V;ENSP00000413094:A260V	ENSP00000278590:A291V	A	+	2	0	ZC3H12C	109528952	1.000000	0.71417	0.972000	0.41901	0.949000	0.60115	7.487000	0.81328	2.781000	0.95711	0.650000	0.86243	GCT		0.438	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		5	14	0	0	0	1	0	5	14				
TYW1	55253	broad.mit.edu	37	7	66463908	66463908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66463908G>T	ENST00000359626.5	+	3	404	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	80	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGAGTGAAGATTTTTTATG	0.368																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(238-240)aaG>aaT		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							119.0	114.0	116.0					7																	66463908		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66463908G>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.240G>T	7.37:g.66463908G>T	ENSP00000352645:p.Lys80Asn						p.K80N	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			3	404	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	80			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.240G>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216703	0.58452	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	T;D	0.84298	0.31;-1.83	4.45	3.57	0.40892	Flavodoxin/nitric oxide synthase (1);	0.000000	0.85682	U	0.000000	D	0.88680	0.6502	L	0.59967	1.855	0.53688	D	0.999979	D	0.89917	1.0	D	0.79784	0.993	D	0.86835	0.2013	9	.	.	.	.	8.4183	0.32685	0.1076:0.0:0.8924:0.0	.	80	Q9NV66	TYW1_HUMAN	N	80	ENSP00000352645:K80N;ENSP00000398897:K80N	.	K	+	3	2	TYW1	66101343	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.621000	0.46418	1.113000	0.41760	-0.244000	0.11960	AAG		0.368	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		28	100	1	0	1.68575e-08	1	2.02034e-08	28	100				
SH3PXD2A	9644	broad.mit.edu	37	10	105362637	105362637	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362637G>A	ENST00000369774.4	-	15	2614	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R752C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R615C|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R647C			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	780					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCAGCTGGCGCCGTAAAGTG	0.642																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2338-2340)Cgc>Tgc		SH3 and PX domains 2A							250.0	242.0	245.0					10																	105362637		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362637G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2338C>T	10.37:g.105362637G>A	ENSP00000358789:p.Arg780Cys					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R647C|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R752C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R615C	p.R780C			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2614	-		Colorectal(252;0.0815)|Breast(234;0.131)	780					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2338C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.47|16.47	3.133236|3.133236	0.56828|0.56828	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.64438	.|0.12;-0.05;0.11;-0.1	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.093842	.|0.85682	.|D	.|0.000000	T|T	0.75781|0.75781	0.3896|0.3896	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.993;0.993;0.982;0.997	T|T	0.77603|0.77603	-0.2526|-0.2526	5|10	.|0.62326	.|D	.|0.03	-17.2546|-17.2546	18.5338|18.5338	0.91001|0.91001	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|780;629;625;752	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	V|C	706|780;752;587;695;647;615	.|ENSP00000358789:R780C;ENSP00000348215:R752C;ENSP00000443663:R647C;ENSP00000441514:R615C	.|ENSP00000318135:R587C	A|R	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352627|105352627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.549000|3.549000	0.53681|0.53681	2.378000|2.378000	0.81104|0.81104	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.642	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		17	226	0	0	0	1	0	17	226				
ZNRF3	84133	broad.mit.edu	37	22	29446491	29446491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446491C>T	ENST00000544604.2	+	8	2497	c.2322C>T	c.(2320-2322)taC>taT	p.Y774Y	ZNRF3_ENST00000402174.1_Silent_p.Y674Y|ZNRF3_ENST00000406323.3_Silent_p.Y674Y|ZNRF3_ENST00000332811.4_Silent_p.Y674Y	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	774					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGTGAAATACGAGGGTCTGC	0.652																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2320-2322)taC>taT		zinc and ring finger 3							12.0	14.0	13.0					22																	29446491		1871	4052	5923	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29446491C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2322C>T	22.37:g.29446491C>T						ZNRF3_ENST00000402174.1_Silent_p.Y674Y|ZNRF3_ENST00000406323.3_Silent_p.Y674Y|ZNRF3_ENST00000332811.4_Silent_p.Y674Y	p.Y774Y	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2497	+			774					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.2322C>T	CCDS56225.1																																																																																				0.652	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		9	13	0	0	0	1	0	9	13				
EPOR	2057	broad.mit.edu	37	19	11489001	11489001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11489001C>T	ENST00000222139.6	-	8	1290	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	396					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TCATCCATGGCCACTATGTCC	0.597											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1186-1188)Gcc>Acc		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						57.0	52.0	54.0					19																	11489001		2203	4300	6503	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489001C>T	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1186G>A	19.37:g.11489001C>T	ENSP00000222139:p.Ala396Thr		OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.A396T	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN			8	1290	-			396					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.1186G>A	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	C	4.436	0.080749	0.08533	.	.	ENSG00000187266	ENST00000222139	T	0.44881	0.91	4.9	1.5	0.22942	.	1.114660	0.06606	N	0.754663	T	0.25306	0.0615	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24297	-1.0164	10	0.20046	T	0.44	-11.6916	4.6343	0.12516	0.0:0.6118:0.1813:0.2069	.	396	P19235	EPOR_HUMAN	T	396	ENSP00000222139:A396T	ENSP00000222139:A396T	A	-	1	0	EPOR	11350001	0.034000	0.19679	0.002000	0.10522	0.264000	0.26372	0.313000	0.19415	0.101000	0.17610	0.555000	0.69702	GCC		0.597	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			16	38	0	0	0	1	0	16	38				
DDX53	168400	broad.mit.edu	37	X	23018282	23018282	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23018282C>T	ENST00000327968.5	+	1	196	c.108C>T	c.(106-108)ttC>ttT	p.F36F	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	36						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGGCCCCTTCGGCCATCAGG	0.572																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(106-108)ttC>ttT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							45.0	42.0	43.0					X																	23018282		2203	4300	6503	SO:0001819	synonymous_variant	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018282C>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.108C>T	X.37:g.23018282C>T						RP11-40F8.2_ENST00000455399.1_RNA	p.F36F	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	196	+			36					Q0D2N2|Q6NVV4	Silent	SNP	ENST00000327968.5	37	c.108C>T	CCDS35214.1																																																																																				0.572	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		12	22	0	0	0	1	0	12	22				
PKD1L1	168507	broad.mit.edu	37	7	47925295	47925295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47925295G>T	ENST00000289672.2	-	18	3244	c.3194C>A	c.(3193-3195)cCt>cAt	p.P1065H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1065	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAGAGGTGAGGGTCAGGGCT	0.557																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3193-3195)cCt>cAt		polycystic kidney disease 1 like 1							85.0	92.0	90.0					7																	47925295		2202	4300	6502	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47925295G>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3194C>A	7.37:g.47925295G>T	ENSP00000289672:p.Pro1065His						p.P1065H	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			18	3244	-			1065			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3194C>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792567	0.31685	.	.	ENSG00000158683	ENST00000289672	T	0.20598	2.06	4.41	0.0233	0.14136	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	3.559970	0.00751	N	0.001079	T	0.34308	0.0893	L	0.51422	1.61	0.09310	N	1	D	0.67145	0.996	D	0.65443	0.935	T	0.10177	-1.0641	10	0.46703	T	0.11	-2.8839	0.6431	0.00813	0.2613:0.1799:0.3744:0.1844	.	1065	Q8TDX9	PK1L1_HUMAN	H	1065	ENSP00000289672:P1065H	ENSP00000289672:P1065H	P	-	2	0	PKD1L1	47891820	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.098000	0.15189	-0.210000	0.10140	-0.904000	0.02843	CCT		0.557	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		8	169	1	0	1.06961e-07	1	1.26574e-07	8	169				
GLI2	2736	broad.mit.edu	37	2	121726336	121726336	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121726336G>T	ENST00000452319.1	+	6	750	c.690G>T	c.(688-690)aaG>aaT	p.K230N	GLI2_ENST00000361492.4_Missense_Mutation_p.K230N|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGAGCCGCAAGCGGGCGCTGT	0.642																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(688-690)aaG>aaT		GLI family zinc finger 2							72.0	70.0	71.0					2																	121726336		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726336G>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.690G>T	2.37:g.121726336G>T	ENSP00000390436:p.Lys230Asn					GLI2_ENST00000361492.4_Missense_Mutation_p.K230N|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR	p.K230N			P10070	GLI2_HUMAN			6	750	+	Renal(3;0.0496)	Prostate(154;0.0623)	230						Missense_Mutation	SNP	ENST00000452319.1	37	c.690G>T	CCDS33283.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.251804|4.251804	0.80135|0.80135	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000440937;ENST00000360874|ENST00000452319;ENST00000361492	.|T;T	.|0.71341	.|-0.56;-0.56	4.91|4.91	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83248|0.83248	0.5213|0.5213	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	P|D;D	0.52316|0.89917	0.952|1.0;0.999	P|D;D	0.50570|0.80764	0.644|0.973;0.994	D|D	0.84166|0.84166	0.0431|0.0431	8|10	0.52906|0.87932	T|D	0.07|0	.|.	7.7314|7.7314	0.28789|0.28789	0.264:0.0:0.736:0.0|0.264:0.0:0.736:0.0	.|.	101|230;230	F5H4D9|P10070;Q0VGA0	.|GLI2_HUMAN;.	S|N	101;93|230	.|ENSP00000390436:K230N;ENSP00000354586:K230N	ENSP00000441454:A93S|ENSP00000354586:K230N	A|K	+|+	1|3	0|2	GLI2|GLI2	121442806|121442806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.959000|3.959000	0.56744|0.56744	1.305000|1.305000	0.44909|0.44909	0.655000|0.655000	0.94253|0.94253	GCG|AAG		0.642	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		4	70	1	0	0.00024832	1	0.0002712	4	70				
PDE4C	5143	broad.mit.edu	37	19	18331255	18331255	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18331255C>T	ENST00000355502.3	-	10	1537	c.666G>A	c.(664-666)acG>acA	p.T222T	PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Silent_p.T222T|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000262805.12_Silent_p.T190T|PDE4C_ENST00000447275.3_Silent_p.T116T|PDE4C_ENST00000594465.3_Silent_p.T222T|PDE4C_ENST00000597297.1_Intron|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	222					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGGTCTGCAGCGTCTCCAACT	0.662																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(664-666)acG>acA		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						102.0	77.0	85.0					19																	18331255		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331255C>T		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.666G>A	19.37:g.18331255C>T						AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.T222T|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000447275.2_Silent_p.T116T|PDE4C_ENST00000262805.11_Silent_p.T190T|PDE4C_ENST00000594617.2_Silent_p.T222T	p.T222T			Q08493	PDE4C_HUMAN			10	1537	-			222					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.666G>A	CCDS12373.1																																																																																				0.662	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			8	30	0	0	0	1	0	8	30				
FPGT	8790	broad.mit.edu	37	1	74665459	74665459	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74665459A>T	ENST00000609362.1	+	2	231	c.194A>T	c.(193-195)gAg>gTg	p.E65V	FPGT_ENST00000482102.2_Missense_Mutation_p.E87V|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000533006.1_3'UTR|LRRIQ3_ENST00000354431.4_5'Flank|FPGT_ENST00000524915.1_3'UTR|FPGT_ENST00000534056.1_Missense_Mutation_p.E65V|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.E65V|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.E65V|LRRIQ3_ENST00000370909.2_5'Flank|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E65V|FPGT_ENST00000467578.2_Missense_Mutation_p.E78V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E65V|FPGT_ENST00000370894.5_Missense_Mutation_p.E65V|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E78V|FPGT_ENST00000370898.3_Missense_Mutation_p.E78V	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	65					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AAAAGAAAGGAGTTACCCCTT	0.428																																						ENST00000370895.1																			0											c.(193-195)gAg>gTg									148.0	142.0	144.0					1																	74665459		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665459A>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.194A>T	1.37:g.74665459A>T	ENSP00000476680:p.Glu65Val					TNNI3K_ENST00000370891.2_Missense_Mutation_p.E65V|TNNI3K_ENST00000370893.1_Missense_Mutation_p.E65V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E65V|FPGT_ENST00000524915.1_Missense_Mutation_p.E65V|FPGT_ENST00000467578.2_Missense_Mutation_p.E65V|FPGT_ENST00000534056.1_Missense_Mutation_p.E65V|FPGT_ENST00000482102.2_Missense_Mutation_p.E87V|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E65V|FPGT_ENST00000370898.2_Missense_Mutation_p.E65V|FPGT_ENST00000370894.4_Missense_Mutation_p.E65V	p.E65V			Q59H18	TNI3K_HUMAN			2	229	+			0					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.194A>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850012	0.71603	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.76839	1.28;0.76;-1.05;-0.76;-1.05;-1.05	4.79	3.64	0.41730	.	0.000000	0.64402	D	0.000002	T	0.70833	0.3269	L	0.52126	1.63	0.31785	N	0.630414	D;B;B;B;D;B	0.89917	1.0;0.2;0.003;0.003;0.997;0.291	D;B;B;B;D;B	0.79784	0.989;0.055;0.004;0.006;0.993;0.218	T	0.64537	-0.6384	10	0.17369	T	0.5	.	7.0699	0.25173	0.6992:0.1537:0.0:0.1471	.	65;65;65;65;65;65	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	V	65;65;87;65;65;65;63;65;65;65;65;65;65	ENSP00000359935:E65V;ENSP00000432819:E65V;ENSP00000359936:E65V;ENSP00000359932:E65V;ENSP00000450895:E65V;ENSP00000359928:E65V	ENSP00000359928:E65V	E	+	2	0	RP11-653A5.2;TNNI3K;AC093158.1	74438047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.090000	0.71397	0.755000	0.32990	0.477000	0.44152	GAG		0.428	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	109	0	0	0	1	0	12	109				
ASTN1	460	broad.mit.edu	37	1	176913103	176913103	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176913103C>T	ENST00000367654.3	-	14	2536	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V	ASTN1_ENST00000367657.3_Silent_p.V767V|ASTN1_ENST00000361833.2_Silent_p.V767V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.V767V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	775					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTGGCCACCACAAGACCAT	0.517																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2323-2325)gtG>gtA		astrotactin 1							122.0	109.0	113.0					1																	176913103		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176913103C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2325G>A	1.37:g.176913103C>T						ASTN1_ENST00000424564.2_Silent_p.V767V|ASTN1_ENST00000361833.2_Silent_p.V767V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.V767V	p.V775V			O14525	ASTN1_HUMAN			14	2338	-			775					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2325G>A																																																																																					0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		13	39	0	0	0	1	0	13	39				
TNXB	7148	broad.mit.edu	37	6	32063391	32063391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32063391C>A	ENST00000479795.1	-	3	2379	c.2239G>T	c.(2239-2241)Gaa>Taa	p.E747*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.E747*|TNXB_ENST00000375244.3_Nonsense_Mutation_p.E747*			P22105	TENX_HUMAN	tenascin XB	747					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCACCTTCTCCGCAGTCT	0.597																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2239-2241)Gaa>Taa		tenascin XB							58.0	60.0	59.0					6																	32063391		2145	4251	6396	SO:0001587	stop_gained	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063391C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2239G>T	6.37:g.32063391C>A	ENSP00000418248:p.Glu747*					TNXB_ENST00000375247.2_Nonsense_Mutation_p.E747*|TNXB_ENST00000479795.1_Nonsense_Mutation_p.E747*	p.E747*			P22105	TENX_HUMAN			3	2440	-			747					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP	ENST00000479795.1	37	c.2239G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.044144	0.97231	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	.	.	.	4.91	4.91	0.64330	.	0.000000	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	11.2113	0.48799	0.0:0.9105:0.0:0.0895	.	.	.	.	X	747	.	ENSP00000364393:E747X	E	-	1	0	TNXB	32171369	0.842000	0.29525	1.000000	0.80357	0.153000	0.21895	1.179000	0.31993	2.267000	0.75376	0.655000	0.94253	GAA		0.597	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		14	34	1	0	1.37285e-15	1	1.76283e-15	14	34				
CSRNP3	80034	broad.mit.edu	37	2	166535949	166535949	+	Nonsense_Mutation	SNP	C	C	T	rs199561929		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166535949C>T	ENST00000342316.4	+	5	1716	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	CSRNP3_ENST00000314499.7_Nonsense_Mutation_p.R482*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R514*	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	482					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGACTATGCCCGACAAGCAGA	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17706	0.0		0.0	False		,,,				2504	0.0					ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1444-1446)Cga>Tga		cysteine-serine-rich nuclear protein 3							78.0	68.0	71.0					2																	166535949		2203	4300	6503	SO:0001587	stop_gained	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535949C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1444C>T	2.37:g.166535949C>T	ENSP00000344042:p.Arg482*					CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.R482*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R514*	p.R482*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			7	1820	+			482					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Nonsense_Mutation	SNP	ENST00000342316.4	37	c.1444C>T	CCDS2225.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.491667	0.96339	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	.	.	.	5.88	4.99	0.66335	.	0.296155	0.35466	N	0.003199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.6935	13.7417	0.62852	0.2885:0.7115:0.0:0.0	.	.	.	.	X	482;482;514	.	.	R	+	1	2	CSRNP3	166244195	0.984000	0.35163	0.997000	0.53966	0.996000	0.88848	2.157000	0.42320	1.428000	0.47296	0.655000	0.94253	CGA		0.517	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		12	14	0	0	0	1	0	12	14				
TBC1D17	79735	broad.mit.edu	37	19	50386140	50386140	+	Silent	SNP	C	C	A	rs146598967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50386140C>A	ENST00000221543.5	+	8	1217	c.918C>A	c.(916-918)atC>atA	p.I306I	TBC1D17_ENST00000535102.2_Silent_p.I273I	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	306	Required for interaction with OPTN.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACCGGATCTTCTCGGGGG	0.667																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(916-918)atC>atA		TBC1 domain family, member 17							35.0	39.0	37.0					19																	50386140		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50386140C>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.918C>A	19.37:g.50386140C>A						TBC1D17_ENST00000535102.2_Silent_p.I273I	p.I306I	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	8	1217	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	306					B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.918C>A	CCDS12785.1																																																																																				0.667	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		10	34	1	0	9.70103e-10	1	1.18443e-09	10	34				
SNRNP200	23020	broad.mit.edu	37	2	96956538	96956538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96956538C>A	ENST00000323853.5	-	19	2514	c.2437G>T	c.(2437-2439)Gca>Tca	p.A813S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	813	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTAGAGTTGCTGTGGAAACT	0.507																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2437-2439)Gca>Tca		small nuclear ribonucleoprotein 200kDa (U5)							85.0	86.0	86.0					2																	96956538		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96956538C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2437G>T	2.37:g.96956538C>A	ENSP00000317123:p.Ala813Ser					SNRNP200_ENST00000349783.5_Intron	p.A813S	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			19	2514	-			813			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2437G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977275	0.92982	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.24538	1.85	5.62	5.62	0.85841	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	N	0.04508	-0.205	0.80722	D	1	P	0.40302	0.712	P	0.54372	0.75	T	0.37478	-0.9704	10	0.54805	T	0.06	-8.7705	18.4319	0.90628	0.0:1.0:0.0:0.0	.	813	O75643	U520_HUMAN	S	813;488	ENSP00000317123:A813S	ENSP00000317123:A813S	A	-	1	0	SNRNP200	96320265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.775000	0.85489	2.648000	0.89879	0.655000	0.94253	GCA		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		9	63	1	0	0.00621372	1	0.00652201	9	63				
CACNA2D2	9254	broad.mit.edu	37	3	50418494	50418494	+	Missense_Mutation	SNP	C	C	T	rs201610016		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50418494C>T	ENST00000479441.1	-	7	715	c.716G>A	c.(715-717)cGc>cAc	p.R239H	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R239H|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R239H|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R239H|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R239H|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R239H|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R170H|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R239H			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	239					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTCTTGTCTGCGGTTTTCCAT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		15769	0.001		0.0	False		,,,				2504	0.0					ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(715-717)cGc>cAc		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						158.0	154.0	156.0					3																	50418494		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50418494C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.716G>A	3.37:g.50418494C>T	ENSP00000418081:p.Arg239His					CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R239H|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R239H|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R239H|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R170H|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R239H|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R239H|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R239H	p.R239H			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	7	889	-			239					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.716G>A	CCDS54588.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.36	3.812101	0.70797	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34	4.59	3.72	0.42706	VWA N-terminal (1);	0.231175	0.44902	D	0.000414	T	0.08492	0.0211	L	0.43152	1.355	0.42091	D	0.991296	P;P	0.48089	0.905;0.884	P;B	0.44623	0.455;0.325	T	0.26950	-1.0088	10	0.38643	T	0.18	-17.0104	13.0175	0.58766	0.0:0.9214:0.0:0.0786	.	239;239	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	H	239;239;239;170;239;239;239;239	ENSP00000407393:R239H;ENSP00000404631:R239H;ENSP00000266039:R239H;ENSP00000354228:R170H;ENSP00000390526:R239H;ENSP00000378519:R239H;ENSP00000390329:R239H;ENSP00000418081:R239H	ENSP00000266039:R239H	R	-	2	0	CACNA2D2	50393498	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.798000	0.55522	1.293000	0.44690	0.655000	0.94253	CGC		0.617	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		5	155	0	0	0	1	0	5	155				
DCTN3	11258	broad.mit.edu	37	9	34617963	34617963	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34617963C>A	ENST00000259632.7	-	3	202	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	DCTN3_ENST00000341694.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000477738.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000479399.1_5'Flank|DCTN3_ENST00000447983.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000378916.4_Missense_Mutation_p.D63Y|DCTN3_ENST00000378913.2_Missense_Mutation_p.D63Y	NM_007234.3	NP_009165.1			dynactin 3 (p22)											large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		TTGATCAGATCTTCAACTAGA	0.463																																						ENST00000447983.2																			0				large_intestine(1)|skin(1)	2						c.(187-189)Gat>Tat		dynactin 3 (p22)							134.0	116.0	122.0					9																	34617963		2203	4300	6503	SO:0001583	missense	11258				cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity	g.chr9:34617963C>A	AF082513	CCDS6560.1, CCDS6561.1, CCDS65028.1, CCDS65029.1	9p13	2008-05-23			ENSG00000137100	ENSG00000137100			2713	protein-coding gene	gene with protein product		607387				9722614, 11306820	Standard	NM_007234		Approved	DCTN-22	uc003zux.1	O75935	OTTHUMG00000019830	ENST00000259632.7:c.187G>T	9.37:g.34617963C>A	ENSP00000259632:p.Asp63Tyr					DCTN3_ENST00000378916.4_Missense_Mutation_p.D63Y|DCTN3_ENST00000341694.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000477738.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000259632.7_Missense_Mutation_p.D63Y|DCTN3_ENST00000378913.2_Missense_Mutation_p.D63Y	p.D63Y			O75935	DCTN3_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)	3	240	-	all_epithelial(49;0.0863)		63						Missense_Mutation	SNP	ENST00000259632.7	37	c.187G>T	CCDS6560.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625805	0.66901	.	.	ENSG00000137100	ENST00000421919;ENST00000259632;ENST00000341694;ENST00000378916;ENST00000447983;ENST00000378913;ENST00000378911	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	M	0.71581	2.175	0.58432	D	0.999995	D;D	0.65815	0.979;0.995	D;P	0.65010	0.931;0.851	T	0.79193	-0.1904	9	0.87932	D	0	-6.5506	15.561	0.76244	0.0:1.0:0.0:0.0	.	63;63	O75935;O75935-2	DCTN3_HUMAN;.	Y	56;63;63;63;63;63;63	.	ENSP00000259632:D63Y	D	-	1	0	DCTN3	34607963	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	5.707000	0.68370	2.677000	0.91161	0.643000	0.83706	GAT		0.463	DCTN3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052218.1			11	22	1	0	1.08611e-07	1	1.2824e-07	11	22				
NBEA	26960	broad.mit.edu	37	13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36241642C>T	ENST00000400445.3	+	56	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2845					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R2845*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428																																						ENST00000540320.1																			1	Substitution - Nonsense(1)	p.R2845*(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(8533-8535)Cga>Tga		neurobeachin							180.0	176.0	177.0					13																	36241642		1889	4123	6012	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36241642C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8533C>T	13.37:g.36241642C>T	ENSP00000383295:p.Arg2845*					NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R2845*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*	p.R2845*			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	56	9067	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2845					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.8533C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	42	9.430291	0.99169	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	5.73	5.73	0.89815	.	0.139473	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	13.3704	0.60709	0.2752:0.7248:0.0:0.0	.	.	.	.	X	2845;2845;2842;2845;1474;423;638;423	.	ENSP00000308534:R2845X	R	+	1	2	NBEA	35139642	0.987000	0.35691	0.995000	0.50966	0.989000	0.77384	2.755000	0.47540	2.700000	0.92200	0.655000	0.94253	CGA		0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		45	79	0	0	0	1	0	45	79				
ZNF808	388558	broad.mit.edu	37	19	53057913	53057913	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53057913C>A	ENST00000359798.4	+	5	1924	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAATCACATCTTTCACGTCA	0.383																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1744-1746)Ctt>Att		zinc finger protein 808							88.0	92.0	91.0					19																	53057913		2203	4299	6502	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057913C>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1744C>A	19.37:g.53057913C>A	ENSP00000352846:p.Leu582Ile						p.L582I	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1924	+			582					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1744C>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.888528	0.33348	.	.	ENSG00000198482	ENST00000359798	T	0.53857	0.6	1.54	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68559	0.3014	M	0.81341	2.54	0.09310	N	1	D	0.67145	0.996	D	0.80764	0.994	T	0.53690	-0.8403	9	0.66056	D	0.02	.	6.3822	0.21542	0.2918:0.7082:0.0:0.0	.	582	Q8N4W9	ZN808_HUMAN	I	582	ENSP00000352846:L582I	ENSP00000352846:L582I	L	+	1	0	ZNF808	57749725	0.000000	0.05858	0.011000	0.14972	0.015000	0.08874	-0.307000	0.08167	0.841000	0.35020	0.306000	0.20318	CTT		0.383	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		35	71	1	0	1.45844e-13	1	1.85123e-13	35	71				
PAX4	5078	broad.mit.edu	37	7	127252041	127252041	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127252041C>T	ENST00000341640.2	-	7	910	c.705G>A	c.(703-705)ggG>ggA	p.G235G	PAX4_ENST00000463946.1_Silent_p.G233G|PAX4_ENST00000378740.2_Silent_p.G235G|PAX4_ENST00000338516.3_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	243					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTACAGTCAGCCCCTGGGAAG	0.557																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(703-705)ggG>ggA		paired box 4							63.0	58.0	60.0					7																	127252041		2203	4300	6503	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127252041C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.705G>A	7.37:g.127252041C>T						PAX4_ENST00000338516.3_Intron|PAX4_ENST00000463946.1_Silent_p.G233G|PAX4_ENST00000378740.2_Silent_p.G235G	p.G235G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			7	910	-			243					O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.705G>A	CCDS5797.1																																																																																				0.557	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			14	41	0	0	0	1	0	14	41				
OR4K15	81127	broad.mit.edu	37	14	20443743	20443743	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20443743A>G	ENST00000305051.5	+	1	141	c.66A>G	c.(64-66)ccA>ccG	p.P22P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCCCTTCCAAAATCGATGA	0.383																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(64-66)ccA>ccG		olfactory receptor, family 4, subfamily K, member 15							92.0	92.0	92.0					14																	20443743		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443743A>G		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.66A>G	14.37:g.20443743A>G							p.P22P	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	141	+	all_cancers(95;0.00108)		22					B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.66A>G	CCDS32026.1																																																																																				0.383	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			9	97	0	0	0	1	0	9	97				
CENPQ	55166	broad.mit.edu	37	6	49456375	49456375	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49456375C>A	ENST00000335783.3	+	8	747	c.653C>A	c.(652-654)aCt>aAt	p.T218N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	218					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					TCTCAGAAAACTCTCAAAGCA	0.358																																						ENST00000335783.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11						c.(652-654)aCt>aAt		centromere protein Q							79.0	82.0	81.0					6																	49456375		2203	4300	6503	SO:0001583	missense	55166				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr6:49456375C>A	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.653C>A	6.37:g.49456375C>A	ENSP00000337289:p.Thr218Asn						p.T218N	NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN			8	747	+	Lung NSC(77;0.0128)		218					A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	c.653C>A	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172361	0.38315	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.44083	0.93	5.94	5.07	0.68467	.	0.304584	0.37577	N	0.002037	T	0.12050	0.0293	N	0.08118	0	0.28026	N	0.934345	B	0.28820	0.224	B	0.28916	0.096	T	0.13361	-1.0512	10	0.66056	D	0.02	-12.1875	13.0844	0.59132	0.0:0.1688:0.8312:0.0	.	218	Q7L2Z9	CENPQ_HUMAN	N	218	ENSP00000337289:T218N	ENSP00000337289:T218N	T	+	2	0	CENPQ	49564334	1.000000	0.71417	0.992000	0.48379	0.636000	0.38137	3.498000	0.53302	1.523000	0.49018	-0.178000	0.13098	ACT		0.358	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		23	41	1	0	1.9806e-07	1	2.3338e-07	23	41				
SKA1	220134	broad.mit.edu	37	18	47917508	47917508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47917508G>A	ENST00000285116.3	+	6	675	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SKA1_ENST00000488454.1_Missense_Mutation_p.R4H|SKA1_ENST00000398452.2_Missense_Mutation_p.R155H|SKA1_ENST00000417656.2_Missense_Mutation_p.R109H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	155					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATGAAATCCCGCTTAACCTAT	0.259																																						ENST00000285116.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(463-465)cGc>cAc		spindle and kinetochore associated complex subunit 1							27.0	28.0	28.0					18																	47917508		2194	4290	6484	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47917508G>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.464G>A	18.37:g.47917508G>A	ENSP00000285116:p.Arg155His					SKA1_ENST00000417656.2_Missense_Mutation_p.R109H|SKA1_ENST00000488454.1_Missense_Mutation_p.R4H|SKA1_ENST00000398452.2_Missense_Mutation_p.R155H	p.R155H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			6	675	+			155					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.464G>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158024	0.78114	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.71103	-0.54;-0.54;-0.54	6.02	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	M	0.83223	2.63	0.58432	D	0.999992	B;P	0.37276	0.131;0.589	B;B	0.30105	0.023;0.111	T	0.70011	-0.4989	10	0.87932	D	0	-1.5438	9.589	0.39534	0.0741:0.0:0.7842:0.1418	.	109;155	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	H	155;109;155	ENSP00000285116:R155H;ENSP00000397222:R109H;ENSP00000381470:R155H	ENSP00000285116:R155H	R	+	2	0	SKA1	46171506	1.000000	0.71417	0.915000	0.36163	0.969000	0.65631	8.088000	0.89523	0.862000	0.35528	0.655000	0.94253	CGC		0.259	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		17	25	0	0	0	1	0	17	25				
PTPN7	5778	broad.mit.edu	37	1	202128442	202128442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202128442G>A	ENST00000308986.5	-	2	219	c.89C>T	c.(88-90)aCg>aTg	p.T30M	PTPN7_ENST00000544762.1_De_novo_Start_OutOfFrame|PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000543735.1_De_novo_Start_OutOfFrame|PTPN7_ENST00000367279.4_Missense_Mutation_p.T69M|PTPN7_ENST00000309017.3_Missense_Mutation_p.T135M			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	30					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTTGGCTGGCGTTTTTTCAGG	0.637																																						ENST00000543735.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13								protein tyrosine phosphatase, non-receptor type 7							55.0	53.0	54.0					1																	202128442		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128442G>A	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.89C>T	1.37:g.202128442G>A	ENSP00000311133:p.Thr30Met					PTPN7_ENST00000544762.1_De_novo_Start_OutOfFrame|PTPN7_ENST00000309017.3_Missense_Mutation_p.T135M|PTPN7_ENST00000367279.4_Missense_Mutation_p.T69M|PTPN7_ENST00000308986.5_Missense_Mutation_p.T30M				P35236	PTN7_HUMAN			0	211	-								B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Translation_Start_Site	SNP	ENST00000308986.5	37			.	.	.	.	.	.	.	.	.	.	G	8.293	0.818072	0.16607	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000435759;ENST00000486116;ENST00000492451	T;T;T;T;T;T;T;T;T	0.46451	3.7;3.69;3.72;3.69;2.67;1.47;1.47;0.89;0.87	4.91	2.9	0.33743	.	0.533622	0.16766	N	0.200424	T	0.31482	0.0798	N	0.24115	0.695	0.21105	N	0.999784	P;P;P	0.48834	0.787;0.635;0.916	B;B;P	0.49597	0.302;0.205;0.616	T	0.05750	-1.0866	10	0.29301	T	0.29	.	4.3645	0.11218	0.0877:0.1528:0.6023:0.1572	.	104;30;69	B4DZD9;P35236;P35236-2	.;PTN7_HUMAN;.	M	69;135;30;111;29;30;30;30;30;30	ENSP00000356248:T69M;ENSP00000309116:T135M;ENSP00000311133:T30M;ENSP00000418416:T111M;ENSP00000419993:T29M;ENSP00000418837:T30M;ENSP00000420434:T30M;ENSP00000417350:T30M;ENSP00000417410:T30M	ENSP00000311133:T30M	T	-	2	0	PTPN7	200395065	0.960000	0.32886	0.541000	0.28102	0.085000	0.17905	1.389000	0.34453	1.071000	0.40834	-0.266000	0.10368	ACG		0.637	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		26	28	0	0	0	1	0	26	28				
ZKSCAN7	55888	broad.mit.edu	37	3	44612794	44612794	+	Missense_Mutation	SNP	G	G	A	rs201600666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44612794G>A	ENST00000273320.3	+	6	2621	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R731H|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	731					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTTAGTCAGCGTTCCACTTTT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19158	0.0		0.001	False		,,,				2504	0.0					ENST00000273320.3																			0											c.(2191-2193)cGt>cAt		zinc finger with KRAB and SCAN domains 7		G	HIS/ARG,	0,4406		0,0,2203	101.0	98.0	99.0		2192,	3.3	1.0	3		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	ZNF167	NM_018651.2,NM_025169.1	29,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	731/755,	44612794	1,13005	2203	4300	6503	SO:0001583	missense	55888							g.chr3:44612794G>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2192G>A	3.37:g.44612794G>A	ENSP00000273320:p.Arg731His					ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R731H|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	p.R731H	NM_018651.2	NP_061121.2					6	2621	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.2192G>A	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764751	0.31228	0.0	1.16E-4	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.36157	1.27;1.27	4.2	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.815301	0.10030	N	0.724809	T	0.18800	0.0451	N	0.11000	0.08	0.09310	N	1	D	0.58970	0.984	B	0.37015	0.239	T	0.04413	-1.0953	10	0.48119	T	0.1	-4.551	10.4179	0.44333	0.0:0.0:0.6462:0.3538	.	731	Q9P0L1	ZN167_HUMAN	H	731;731;169	ENSP00000395524:R731H;ENSP00000273320:R731H	ENSP00000273320:R731H	R	+	2	0	ZNF167	44587798	0.000000	0.05858	0.999000	0.59377	0.991000	0.79684	0.130000	0.15850	0.956000	0.37904	0.655000	0.94253	CGT		0.458	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		37	49	0	0	0	1	0	37	49				
PCDHAC2	56134	broad.mit.edu	37	5	140347266	140347266	+	Silent	SNP	G	G	A	rs367838143		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347266G>A	ENST00000289269.5	+	1	1447	c.915G>A	c.(913-915)agG>agA	p.R305R	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGGGAGAGGCAGCTCTTCA	0.572																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(913-915)agG>agA				G	,,,,,,,,,,,,,,,,,,	0,4406		0,0,2203	40.0	39.0	39.0		,915,,,,,,,,,,,,,,,,,915	-1.6	1.0	5		39	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHAC2,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018898.3,NM_018899.5,NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031883.2	,,,,,,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,,,,,,	,305/1008,,,,,,,,,,,,,,,,,305/885	140347266	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347266G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.915G>A	5.37:g.140347266G>A						PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.R305R	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1447	+			305			Cadherin 3.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.915G>A	CCDS4242.1																																																																																				0.572	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		8	15	0	0	0	1	0	8	15				
FOCAD	54914	broad.mit.edu	37	9	20949643	20949643	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20949643G>T	ENST00000380249.1	+	35	4281	c.3917G>T	c.(3916-3918)aGa>aTa	p.R1306I	FOCAD_ENST00000338382.6_Missense_Mutation_p.R1306I|FOCAD_ENST00000605086.1_Missense_Mutation_p.R742I	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1306						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TTTCAAGGCAGACTTAATGAA	0.363																																						ENST00000380249.1																			0											c.(3916-3918)aGa>aTa		focadhesin							79.0	89.0	86.0					9																	20949643		2203	4299	6502	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20949643G>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3917G>T	9.37:g.20949643G>T	ENSP00000369599:p.Arg1306Ile					FOCAD_ENST00000605086.1_Missense_Mutation_p.R742I|FOCAD_ENST00000338382.6_Missense_Mutation_p.R1306I	p.R1306I	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			35	4281	+			1306					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3917G>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736609	0.69304	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.67345	-0.26;-0.26	5.76	0.834	0.18880	Armadillo-type fold (1);	0.522269	0.21308	N	0.076694	T	0.58177	0.2104	L	0.43152	1.355	0.53005	D	0.999969	P	0.37612	0.602	B	0.42163	0.378	T	0.56360	-0.7992	10	0.72032	D	0.01	-20.1937	7.4264	0.27102	0.6254:0.0:0.3746:0.0	.	1306	Q5VW36	K1797_HUMAN	I	1306	ENSP00000369599:R1306I;ENSP00000344307:R1306I	ENSP00000344307:R1306I	R	+	2	0	KIAA1797	20939643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.208000	0.32345	0.313000	0.23062	0.655000	0.94253	AGA		0.363	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		10	71	1	0	1.08611e-07	1	1.2824e-07	10	71				
ZFPL1	7542	broad.mit.edu	37	11	64852626	64852626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64852626G>A	ENST00000294258.3	+	3	294	c.142G>A	c.(142-144)Gac>Aac	p.D48N	CDCA5_ENST00000275517.3_5'Flank|CDCA5_ENST00000404147.3_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	48					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCAAGATAGCGACTACAACCC	0.602																																						ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(142-144)Gac>Aac		zinc finger protein-like 1							146.0	114.0	125.0					11																	64852626		2201	4297	6498	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64852626G>A		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.142G>A	11.37:g.64852626G>A	ENSP00000294258:p.Asp48Asn						p.D48N	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			3	294	+			48					A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.142G>A	CCDS8092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.530827|5.530827	0.96446|0.96446	.|.	.|.	ENSG00000162300|ENSG00000162300	ENST00000294258;ENST00000526334;ENST00000526945;ENST00000532200|ENST00000530488	T;D;T|.	0.95853|.	-0.52;-3.83;-0.52|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.051230|.	0.85682|.	D|.	0.000000|.	D|D	0.82806|0.82806	0.5117|0.5117	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.969|.	D;B|.	0.81914|.	0.995;0.435|.	D|D	0.85807|0.85807	0.1377|0.1377	10|5	0.66056|.	D|.	0.02|.	-26.1698|-26.1698	15.6243|15.6243	0.76840|0.76840	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	48;48|.	B4DHV1;O95159|.	.;ZFPL1_HUMAN|.	N|Q	48;48;42;48|1	ENSP00000294258:D48N;ENSP00000434454:D48N;ENSP00000437090:D48N|.	ENSP00000294258:D48N|.	D|R	+|+	1|2	0|0	ZFPL1|ZFPL1	64609202|64609202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	6.209000|6.209000	0.72171|0.72171	2.545000|2.545000	0.85829|0.85829	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.602	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		15	31	0	0	0	1	0	15	31				
ZBTB7A	51341	broad.mit.edu	37	19	4054174	4054174	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054174G>T	ENST00000322357.4	-	2	1335	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.L353M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	353					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTACTTCAGGTAGTAGTCC	0.667																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1057-1059)Ctg>Atg		zinc finger and BTB domain containing 7A							42.0	43.0	43.0					19																	4054174		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054174G>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1057C>A	19.37:g.4054174G>T	ENSP00000323670:p.Leu353Met					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.L353M	p.L353M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1335	-		Hepatocellular(1079;0.137)	353					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1057C>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849152	0.32699	.	.	ENSG00000178951	ENST00000322357	T	0.12879	2.64	5.03	1.28	0.21552	.	0.000000	0.64402	D	0.000016	T	0.09113	0.0225	L	0.41710	1.295	0.32429	N	0.548307	B	0.16603	0.018	B	0.17979	0.02	T	0.08953	-1.0697	10	0.33940	T	0.23	.	3.7002	0.08379	0.2873:0.0:0.5199:0.1928	.	353	O95365	ZBT7A_HUMAN	M	353	ENSP00000323670:L353M	ENSP00000323670:L353M	L	-	1	2	ZBTB7A	4005174	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.697000	0.37784	0.483000	0.27608	0.462000	0.41574	CTG		0.667	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		16	34	1	0	6.49762e-13	1	8.19883e-13	16	34				
IL17RD	54756	broad.mit.edu	37	3	57143645	57143645	+	Missense_Mutation	SNP	G	G	A	rs200321574		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57143645G>A	ENST00000296318.7	-	5	558	c.470C>T	c.(469-471)aCg>aTg	p.T157M	IL17RD_ENST00000427856.2_Missense_Mutation_p.T133M|IL17RD_ENST00000463523.1_Missense_Mutation_p.T13M|IL17RD_ENST00000320057.5_Missense_Mutation_p.T13M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	157					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAATAATCCGTTTCAAATTT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		19541	0.001		0.0	False		,,,				2504	0.0					ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(469-471)aCg>aTg		interleukin 17 receptor D							88.0	85.0	86.0					3																	57143645		2203	4300	6503	SO:0001583	missense	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57143645G>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.470C>T	3.37:g.57143645G>A	ENSP00000296318:p.Thr157Met					IL17RD_ENST00000427856.2_Missense_Mutation_p.T133M|IL17RD_ENST00000463523.1_Missense_Mutation_p.T13M|IL17RD_ENST00000320057.5_Missense_Mutation_p.T13M	p.T157M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	5	558	-			157					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	c.470C>T	CCDS2880.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.6	4.650781	0.87958	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523;ENST00000467210	T;T;T;T	0.15834	2.39;2.4;2.4;2.4	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;P;D	0.65874	0.908;0.825;0.939	T	0.03969	-1.0988	10	0.87932	D	0	-20.3365	19.3133	0.94199	0.0:0.0:1.0:0.0	.	13;157;133	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	M	157;13;133;13;13	ENSP00000296318:T157M;ENSP00000322250:T13M;ENSP00000399209:T133M;ENSP00000417516:T13M	ENSP00000296318:T157M	T	-	2	0	IL17RD	57118685	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.146000	0.89626	2.542000	0.85734	0.655000	0.94253	ACG		0.408	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		25	46	0	0	0	1	0	25	46				
OR2M5	127059	broad.mit.edu	37	1	248308611	248308611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308611G>T	ENST00000366476.1	+	1	162	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGACACCCAGCTCCACACCC	0.532																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(160-162)caG>caT		olfactory receptor, family 2, subfamily M, member 5							309.0	293.0	299.0					1																	248308611		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308611G>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.162G>T	1.37:g.248308611G>T	ENSP00000355432:p.Gln54His						p.Q54H	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	162	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		54						Missense_Mutation	SNP	ENST00000366476.1	37	c.162G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	0.016	-1.516625	0.00975	.	.	ENSG00000162727	ENST00000366476	T	0.00475	7.16	3.28	-6.16	0.02098	GPCR, rhodopsin-like superfamily (1);	0.745505	0.10468	N	0.671136	T	0.00178	0.0005	N	0.11023	0.085	0.09310	N	1	B	0.20368	0.044	B	0.22386	0.039	T	0.34229	-0.9837	10	0.09843	T	0.71	.	1.6155	0.02702	0.2052:0.4157:0.1679:0.2112	.	54	A3KFT3	OR2M5_HUMAN	H	54	ENSP00000355432:Q54H	ENSP00000355432:Q54H	Q	+	3	2	OR2M5	246375234	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.379000	0.01067	-0.726000	0.04895	-2.107000	0.00358	CAG		0.532	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		19	326	1	0	3.28513e-13	1	4.1605e-13	19	326				
POMT1	10585	broad.mit.edu	37	9	134385314	134385314	+	Silent	SNP	G	G	A	rs553160213		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134385314G>A	ENST00000372228.3	+	8	809	c.630G>A	c.(628-630)acG>acA	p.T210T	POMT1_ENST00000423007.1_Silent_p.T210T|POMT1_ENST00000404875.2_Silent_p.T93T|POMT1_ENST00000354713.4_Silent_p.T180T|POMT1_ENST00000341012.7_Silent_p.T156T|POMT1_ENST00000402686.3_Silent_p.T210T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Silent_p.T58T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	210					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTGTGTTCACGTACGTGCTCG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		21381	0.0		0.001	False		,,,				2504	0.0					ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(628-630)acG>acA		protein-O-mannosyltransferase 1							254.0	211.0	226.0					9																	134385314		2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134385314G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.630G>A	9.37:g.134385314G>A						POMT1_ENST00000341012.7_Silent_p.T156T|POMT1_ENST00000419118.2_Silent_p.T58T|POMT1_ENST00000372228.3_Silent_p.T210T|POMT1_ENST00000354713.4_Silent_p.T180T|POMT1_ENST00000402686.3_Silent_p.T210T|POMT1_ENST00000404875.2_Silent_p.T93T|POMT1_ENST00000541219.1_Intron	p.T210T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	8	1072	+		Myeloproliferative disorder(178;0.204)	210					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.630G>A	CCDS6943.1																																																																																				0.512	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		49	96	0	0	0	1	0	49	96				
CLGN	1047	broad.mit.edu	37	4	141320176	141320176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141320176G>A	ENST00000325617.5	-	8	1153	c.713C>T	c.(712-714)aCa>aTa	p.T238I	CLGN_ENST00000537281.1_Missense_Mutation_p.T238I|CLGN_ENST00000414773.1_Missense_Mutation_p.T238I	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	238					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CACCTCAAATGTGTCATCTGG	0.338																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(712-714)aCa>aTa		calmegin							91.0	84.0	86.0					4																	141320176		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141320176G>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.713C>T	4.37:g.141320176G>A	ENSP00000326699:p.Thr238Ile					CLGN_ENST00000414773.1_Missense_Mutation_p.T238I|CLGN_ENST00000537281.1_Missense_Mutation_p.T238I	p.T238I	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			8	1153	-	all_hematologic(180;0.162)		238					B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.713C>T	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676045	0.67928	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.54675	0.56;0.56;0.56	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.042321	0.85682	D	0.000000	T	0.77980	0.4212	M	0.93763	3.455	0.42632	D	0.993381	P	0.50528	0.936	P	0.56278	0.795	D	0.83695	0.0179	10	0.87932	D	0	-25.2428	19.9228	0.97093	0.0:0.0:1.0:0.0	.	238	O14967	CLGN_HUMAN	I	238;238;238;155	ENSP00000326699:T238I;ENSP00000392782:T238I;ENSP00000439381:T238I	ENSP00000326699:T238I	T	-	2	0	CLGN	141539626	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.675000	0.61619	2.709000	0.92574	0.637000	0.83480	ACA		0.338	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		18	35	0	0	0	1	0	18	35				
PLXNA4	91584	broad.mit.edu	37	7	132192525	132192525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:132192525G>A	ENST00000359827.3	-	2	1890	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	PLXNA4_ENST00000423507.2_Silent_p.L310L|PLXNA4_ENST00000378539.5_Silent_p.L310L|PLXNA4_ENST00000321063.4_Silent_p.L310L			Q9HCM2	PLXA4_HUMAN	plexin A4	310	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCCTGCAGCAGGCGGTAC	0.592																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(928-930)Ctg>Ttg		plexin A4							56.0	45.0	49.0					7																	132192525		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192525G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.928C>T	7.37:g.132192525G>A						PLXNA4_ENST00000378539.5_Silent_p.L310L|PLXNA4_ENST00000423507.2_Silent_p.L310L|PLXNA4_ENST00000321063.4_Silent_p.L310L	p.L310L			Q9HCM2	PLXA4_HUMAN			2	1890	-			310			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.928C>T	CCDS43646.1																																																																																				0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		15	29	0	0	0	1	0	15	29				
SIRT4	23409	broad.mit.edu	37	12	120750805	120750805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120750805G>A	ENST00000202967.4	+	4	970	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	SIRT4_ENST00000537892.1_3'UTR|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATTCTCGTTGTGGAGAGTTG	0.478																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(910-912)tGt>tAt		sirtuin 4							175.0	153.0	161.0					12																	120750805		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750805G>A	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.911G>A	12.37:g.120750805G>A	ENSP00000202967:p.Cys304Tyr					SIRT4_ENST00000537892.1_3'UTR	p.C304Y	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			4	970	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		304			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.911G>A	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404493	0.62288	.	.	ENSG00000089163	ENST00000202967	T	0.17691	2.26	5.08	4.16	0.48862	.	0.043555	0.85682	D	0.000000	T	0.35885	0.0947	M	0.90759	3.145	0.80722	D	1	P	0.45672	0.864	P	0.46362	0.514	T	0.50898	-0.8773	10	0.62326	D	0.03	-14.6932	14.9965	0.71436	0.0:0.0:0.8562:0.1438	.	304	Q9Y6E7	SIRT4_HUMAN	Y	304	ENSP00000202967:C304Y	ENSP00000202967:C304Y	C	+	2	0	SIRT4	119235188	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	9.791000	0.99081	1.233000	0.43693	0.650000	0.86243	TGT		0.478	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		9	101	0	0	0	1	0	9	101				
SCARF1	8578	broad.mit.edu	37	17	1538779	1538779	+	Missense_Mutation	SNP	G	G	A	rs200063321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1538779G>A	ENST00000263071.4	-	11	1815	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.S503L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	589	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGGAGACCGATGGCCGCTT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		16457	0.001		0.0	False		,,,				2504	0.0					ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1765-1767)tCg>tTg		scavenger receptor class F, member 1							62.0	64.0	63.0					17																	1538779		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538779G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1766C>T	17.37:g.1538779G>A	ENSP00000263071:p.Ser589Leu					SCARF1_ENST00000348987.3_Missense_Mutation_p.S503L|SCARF1_ENST00000571272.1_3'UTR	p.S589L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1815	-			589			Pro/Ser-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1766C>T	CCDS11007.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.9	4.349709	0.82132	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.37058	1.22;1.22	5.21	5.21	0.72293	.	0.000000	0.37577	N	0.002028	T	0.60676	0.2287	M	0.71581	2.175	0.48341	D	0.999638	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58301	-0.7660	10	0.35671	T	0.21	-15.2299	18.7945	0.91988	0.0:0.0:1.0:0.0	.	503;589	Q14162-2;Q14162	.;SREC_HUMAN	L	589;503	ENSP00000263071:S589L;ENSP00000323964:S503L	ENSP00000263071:S589L	S	-	2	0	SCARF1	1485529	1.000000	0.71417	0.152000	0.22495	0.403000	0.30841	9.112000	0.94314	2.428000	0.82296	0.555000	0.69702	TCG		0.682	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		6	80	0	0	0	1	0	6	80				
PPP1R21	129285	broad.mit.edu	37	2	48701869	48701869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48701869C>T	ENST00000294952.8	+	12	1293	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A379V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A379V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	379						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GCGTTAAGAGCCAGGAATCTA	0.403																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1135-1137)gCc>gTc		protein phosphatase 1, regulatory subunit 21							147.0	133.0	138.0					2																	48701869		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48701869C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1136C>T	2.37:g.48701869C>T	ENSP00000294952:p.Ala379Val					PPP1R21_ENST00000281394.4_Missense_Mutation_p.A379V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A379V	p.A379V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			12	1293	+			379					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1136C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034945	0.93575	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	L	0.56769	1.78	0.80722	D	1	D;D;D;P	0.56746	0.977;0.977;0.971;0.944	P;P;P;P	0.59703	0.862;0.862;0.783;0.572	T	0.72516	-0.4269	9	0.39692	T	0.17	-8.2686	19.0557	0.93064	0.0:1.0:0.0:0.0	.	379;379;379;379	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	V	379	.	ENSP00000281394:A379V	A	+	2	0	KLRAQ1	48555373	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.076000	0.76806	2.510000	0.84645	0.650000	0.86243	GCC		0.403	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		29	52	0	0	0	1	0	29	52				
AP4E1	23431	broad.mit.edu	37	15	51242130	51242130	+	Missense_Mutation	SNP	C	C	T	rs200678853		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51242130C>T	ENST00000261842.5	+	12	1530	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	AP4E1_ENST00000560508.1_Missense_Mutation_p.A400V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	475					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGACTACTAGCGGAAGGTTGG	0.328																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1423-1425)gCg>gTg		adaptor-related protein complex 4, epsilon 1 subunit							150.0	140.0	143.0					15																	51242130		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51242130C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1424C>T	15.37:g.51242130C>T	ENSP00000261842:p.Ala475Val					AP4E1_ENST00000560508.1_Missense_Mutation_p.A400V	p.A475V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	12	1530	+			475					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.1424C>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537258	0.96460	.	.	ENSG00000081014	ENST00000261842	T	0.13307	2.6	5.62	5.62	0.85841	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.054292	0.85682	D	0.000000	T	0.37210	0.0995	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01334	-1.1382	10	0.54805	T	0.06	-15.7377	19.0124	0.92879	0.0:1.0:0.0:0.0	.	475	Q9UPM8	AP4E1_HUMAN	V	475	ENSP00000261842:A475V	ENSP00000261842:A475V	A	+	2	0	AP4E1	49029422	1.000000	0.71417	0.971000	0.41717	0.948000	0.59901	7.238000	0.78173	2.810000	0.96702	0.650000	0.86243	GCG		0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			40	62	0	0	0	1	0	40	62				
DIO2	1734	broad.mit.edu	37	14	80669274	80669274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669274C>T	ENST00000557010.1	-	4	965	c.580G>A	c.(580-582)Gca>Aca	p.A194T	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A194T|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.A230T	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	194					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGCTGGGCTGCTGCACATCGA	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(580-582)Gca>Aca		deiodinase, iodothyronine, type II							64.0	68.0	67.0					14																	80669274		2056	4193	6249	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669274C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.580G>A	14.37:g.80669274C>T	ENSP00000451419:p.Ala194Thr		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.A230T|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A194T	p.A194T	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	965	-			194					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.580G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598186	0.87055	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.48201	0.82;0.82;0.82	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000003	T	0.77916	0.4202	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.82464	-0.0444	10	0.72032	D	0.01	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	230;194;230	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	T	194;194;230	ENSP00000405854:A194T;ENSP00000451419:A194T;ENSP00000450980:A230T	ENSP00000405854:A194T	A	-	1	0	DIO2	79739027	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	7.818000	0.86416	2.724000	0.93272	0.650000	0.86243	GCA		0.557	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			22	40	0	0	0	1	0	22	40				
DNAH5	1767	broad.mit.edu	37	5	13708294	13708294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13708294C>T	ENST00000265104.4	-	76	13380	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4426					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCAGATTTTCGCTCATGATG	0.463									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13276-13278)Gaa>Aaa		dynein, axonemal, heavy chain 5							230.0	203.0	212.0					5																	13708294		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13708294C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13276G>A	5.37:g.13708294C>T	ENSP00000265104:p.Glu4426Lys						p.E4426K	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			76	13380	-	Lung NSC(4;0.00476)		4426					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13276G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631641	0.87660	.	.	ENSG00000039139	ENST00000265104	T	0.08984	3.03	5.08	5.08	0.68730	Dynein heavy chain (1);	0.052861	0.64402	D	0.000001	T	0.22126	0.0533	M	0.85462	2.755	0.80722	D	1	B	0.30889	0.299	B	0.39840	0.311	T	0.03000	-1.1084	10	0.33141	T	0.24	.	18.8429	0.92192	0.0:1.0:0.0:0.0	.	4426	Q8TE73	DYH5_HUMAN	K	4426	ENSP00000265104:E4426K	ENSP00000265104:E4426K	E	-	1	0	DNAH5	13761294	1.000000	0.71417	0.691000	0.30163	0.875000	0.50365	4.764000	0.62264	2.521000	0.84997	0.655000	0.94253	GAA		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		61	101	0	0	0	1	0	61	101				
UNC13B	10497	broad.mit.edu	37	9	35396885	35396885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396885T>C	ENST00000378495.3	+	27	3458	c.3236T>C	c.(3235-3237)gTa>gCa	p.V1079A	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1079A|UNC13B_ENST00000396787.1_Missense_Mutation_p.V1091A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1079	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AATGAGGATGTATCCCTGGAA	0.557																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3235-3237)gTa>gCa		unc-13 homolog B (C. elegans)							224.0	208.0	214.0					9																	35396885		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35396885T>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3236T>C	9.37:g.35396885T>C	ENSP00000367756:p.Val1079Ala					UNC13B_ENST00000396787.1_Missense_Mutation_p.V1091A|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1079A	p.V1079A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		27	3458	+	all_epithelial(49;0.212)		1079			MHD1.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.3236T>C	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773507	0.90108	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84442	-1.73;-1.66;-1.85	5.43	5.43	0.79202	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.91932	0.7445	M	0.77486	2.375	0.80722	D	1	D;P	0.76494	0.999;0.462	D;B	0.79784	0.993;0.08	D	0.92124	0.5706	10	0.48119	T	0.1	-16.1314	15.4861	0.75569	0.0:0.0:0.0:1.0	.	1079;1079	F8W8M9;O14795	.;UN13B_HUMAN	A	1091;1079;1079;666	ENSP00000380006:V1091A;ENSP00000367756:V1079A;ENSP00000367757:V1079A	ENSP00000367756:V1079A	V	+	2	0	UNC13B	35386885	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.953000	0.87836	2.048000	0.60808	0.460000	0.39030	GTA		0.557	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		91	112	0	0	0	1	0	91	112				
DBN1	1627	broad.mit.edu	37	5	176893796	176893796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176893796G>A	ENST00000309007.5	-	8	967	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	DBN1_ENST00000393565.1_Missense_Mutation_p.R250W|DBN1_ENST00000292385.5_Missense_Mutation_p.R252W	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	250					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTCAACCGCCTCTTGGCC	0.602																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(754-756)Cgg>Tgg		drebrin 1							179.0	190.0	186.0					5																	176893796		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893796G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.748C>T	5.37:g.176893796G>A	ENSP00000308532:p.Arg250Trp					DBN1_ENST00000393565.1_Missense_Mutation_p.R250W|DBN1_ENST00000309007.5_Missense_Mutation_p.R250W	p.R252W	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1363	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	250					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.754C>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758659	0.69763	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.44083	0.93;0.93;1.48	4.99	1.78	0.24846	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.989;0.994;0.981;0.994	T	0.51934	-0.8642	10	0.87932	D	0	-23.3894	8.4975	0.33136	0.077:0.0:0.4849:0.4381	.	200;250;250;252	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	W	250;252;250;249	ENSP00000308532:R250W;ENSP00000292385:R252W;ENSP00000377195:R250W	ENSP00000292385:R252W	R	-	1	2	DBN1	176826402	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.237000	0.32695	0.604000	0.29930	-0.274000	0.10170	CGG		0.602	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		87	137	0	0	0	1	0	87	137				
ZSWIM4	65249	broad.mit.edu	37	19	13941042	13941042	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941042T>C	ENST00000254323.2	+	13	2337	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y	ZSWIM4_ENST00000440752.2_Silent_p.Y550Y	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	716							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGAACTGGTATTCCTTATTCA	0.602																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2146-2148)taT>taC		zinc finger, SWIM-type containing 4							73.0	73.0	73.0					19																	13941042		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941042T>C	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2148T>C	19.37:g.13941042T>C						ZSWIM4_ENST00000440752.2_Silent_p.Y550Y	p.Y716Y	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2337	+			716						Silent	SNP	ENST00000254323.2	37	c.2148T>C	CCDS32924.1																																																																																				0.602	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		10	32	0	0	0	1	0	10	32				
FREM1	158326	broad.mit.edu	37	9	14819255	14819255	+	Silent	SNP	G	G	A	rs200522123		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14819255G>A	ENST00000380880.3	-	14	3306	c.2523C>T	c.(2521-2523)ggC>ggT	p.G841G	FREM1_ENST00000422223.2_Silent_p.G841G|FREM1_ENST00000380881.4_Silent_p.G842G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	841					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATGGAGATCGCCCCAAGAAA	0.423																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2524-2526)ggC>ggT		FRAS1 related extracellular matrix 1							95.0	90.0	91.0					9																	14819255		1896	4131	6027	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14819255G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2523C>T	9.37:g.14819255G>A						FREM1_ENST00000422223.2_Silent_p.G841G|FREM1_ENST00000380880.3_Silent_p.G841G	p.G842G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	15	3341	-			841					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.2526C>T	CCDS47952.1																																																																																				0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		6	28	0	0	0	1	0	6	28				
CC2D1A	54862	broad.mit.edu	37	19	14038837	14038837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14038837G>A	ENST00000318003.7	+	23	2689	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V	CC2D1A_ENST00000589606.1_Silent_p.V816V	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	816					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGGCAGCTGTGCCCACAGTGA	0.627																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(2446-2448)gtG>gtA		coiled-coil and C2 domain containing 1A							49.0	58.0	55.0					19																	14038837		2052	4194	6246	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14038837G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2448G>A	19.37:g.14038837G>A						CC2D1A_ENST00000589606.1_Silent_p.V816V	p.V816V	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		23	2689	+			816					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.2448G>A	CCDS42512.1																																																																																				0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		8	67	0	0	0	1	0	8	67				
SRR	63826	broad.mit.edu	37	17	2222127	2222127	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2222127T>C	ENST00000344595.5	+	4	621	c.303T>C	c.(301-303)ccT>ccC	p.P101P	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	101					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CAGGAATTCCTGCTTATATTG	0.458																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(301-303)ccT>ccC		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						174.0	178.0	177.0					17																	2222127		2203	4300	6503	SO:0001819	synonymous_variant	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2222127T>C	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.303T>C	17.37:g.2222127T>C						SRR_ENST00000576848.1_Intron	p.P101P	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	4	621	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	101					D3DTI5|Q6IA55	Silent	SNP	ENST00000344595.5	37	c.303T>C	CCDS11017.1																																																																																				0.458	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		14	238	0	0	0	1	0	14	238				
TANC1	85461	broad.mit.edu	37	2	160027192	160027192	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160027192C>T	ENST00000263635.6	+	10	1464	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	TANC1_ENST00000454300.1_Silent_p.G303G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	409					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACAGAGGCGCGGTGGTGG	0.507																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(1225-1227)ggC>ggT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							107.0	120.0	116.0					2																	160027192		1920	4120	6040	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160027192C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1227C>T	2.37:g.160027192C>T						TANC1_ENST00000454300.1_Silent_p.G303G	p.G409G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			10	1464	+			409					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.1227C>T	CCDS42766.1																																																																																				0.507	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			28	29	0	0	0	1	0	28	29				
ZNF302	55900	broad.mit.edu	37	19	35175594	35175594	+	Missense_Mutation	SNP	C	C	T	rs371483744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35175594C>T	ENST00000446502.2	+	6	992	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	ZNF302_ENST00000423823.2_Missense_Mutation_p.R218C|ZNF302_ENST00000505242.1_Missense_Mutation_p.R218C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.R218C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATCCTCAGTCGCCACTGGAG	0.448																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(652-654)Cgc>Tgc		zinc finger protein 302		C	CYS/ARG,CYS/ARG	0,4394		0,0,2197	91.0	98.0	96.0		652,652	1.0	0.8	19		96	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ZNF302	NM_001012320.1,NM_018443.2	180,180	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	218/400,218/400	35175594	1,12985	2197	4296	6493	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175594C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.784C>T	19.37:g.35175594C>T	ENSP00000396379:p.Arg262Cys					ZNF302_ENST00000446502.2_Missense_Mutation_p.R262C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.R218C|ZNF302_ENST00000423823.2_Missense_Mutation_p.R218C	p.R218C			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1146	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		297					Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.652C>T		.	.	.	.	.	.	.	.	.	.	C	7.762	0.705691	0.15172	0.0	1.16E-4	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.26660	3.16;3.16;3.16;1.72	0.967	0.967	0.19674	.	.	.	.	.	T	0.46210	0.1381	M	0.76727	2.345	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.981	T	0.15178	-1.0446	9	0.66056	D	0.02	.	7.7985	0.29160	0.0:1.0:0.0:0.0	.	262;218	E7EVR1;Q9NR11-2	.;.	C	218;218;218;262	ENSP00000391067:R218C;ENSP00000421028:R218C;ENSP00000405219:R218C;ENSP00000396379:R262C	ENSP00000405219:R218C	R	+	1	0	ZNF302	39867434	0.000000	0.05858	0.756000	0.31282	0.304000	0.27724	-2.068000	0.01382	0.822000	0.34565	0.467000	0.42956	CGC		0.448	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			47	63	0	0	0	1	0	47	63				
PNMA5	114824	broad.mit.edu	37	X	152159206	152159206	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159206C>A	ENST00000439251.1	-	2	1375	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	PNMA5_ENST00000452693.1_Missense_Mutation_p.G313W|PNMA5_ENST00000361887.5_Missense_Mutation_p.G313W|PNMA5_ENST00000535214.1_Missense_Mutation_p.G313W	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	313					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACACCCTCGCTGATCC	0.527																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(937-939)Ggg>Tgg		paraneoplastic Ma antigen family member 5							35.0	36.0	36.0					X																	152159206		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159206C>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.937G>T	X.37:g.152159206C>A	ENSP00000388850:p.Gly313Trp					PNMA5_ENST00000452693.1_Missense_Mutation_p.G313W|PNMA5_ENST00000361887.5_Missense_Mutation_p.G313W|PNMA5_ENST00000535214.1_Missense_Mutation_p.G313W	p.G313W	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1375	-	Acute lymphoblastic leukemia(192;6.56e-05)		313					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.937G>T	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.724659	0.48833	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	3.07	2.15	0.27550	.	.	.	.	.	T	0.25082	0.0609	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.04216	-1.0968	9	0.72032	D	0.01	-0.6399	6.5276	0.22309	0.2866:0.7134:0.0:0.0	.	313	Q96PV4	PNMA5_HUMAN	W	313	ENSP00000354834:G313W;ENSP00000445775:G313W;ENSP00000388850:G313W;ENSP00000392342:G313W	ENSP00000354834:G313W	G	-	1	0	PNMA5	151909862	0.000000	0.05858	0.002000	0.10522	0.387000	0.30353	0.119000	0.15626	0.664000	0.31047	0.287000	0.19450	GGG		0.527	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		28	52	1	0	2.12542e-12	1	2.67336e-12	28	52				
WHSC1	7468	broad.mit.edu	37	4	1932478	1932478	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1932478C>T	ENST00000382895.3	+	8	1967	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	WHSC1_ENST00000398261.1_Silent_p.V512V|WHSC1_ENST00000420906.2_Silent_p.V512V|WHSC1_ENST00000514045.1_Silent_p.V512V|WHSC1_ENST00000508803.1_Silent_p.V512V|WHSC1_ENST00000382891.5_Silent_p.V512V|WHSC1_ENST00000503128.1_Silent_p.V512V|WHSC1_ENST00000382892.2_Silent_p.V512V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	512					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGCCCCTGTCCAGGCTGAAG	0.517			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(1534-1536)gtC>gtT		Wolf-Hirschhorn syndrome candidate 1							157.0	146.0	150.0					4																	1932478		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1932478C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1536C>T	4.37:g.1932478C>T						WHSC1_ENST00000420906.2_Silent_p.V512V|WHSC1_ENST00000514045.1_Silent_p.V512V|WHSC1_ENST00000398261.1_Silent_p.V512V|WHSC1_ENST00000508803.1_Silent_p.V512V|WHSC1_ENST00000382891.5_Silent_p.V512V|WHSC1_ENST00000382892.2_Silent_p.V512V|WHSC1_ENST00000382895.3_Silent_p.V512V	p.V512V			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	6	1743	+		all_epithelial(65;1.34e-05)	512					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.1536C>T	CCDS33940.1																																																																																				0.517	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		15	31	0	0	0	1	0	15	31				
ZBTB18	10472	broad.mit.edu	37	1	244218516	244218516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244218516C>T	ENST00000358704.4	+	2	1589	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	471					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C471C(1)									GCAAGTGGTGCGAGCGCAGGT	0.597																																						ENST00000358704.4																			1	Substitution - coding silent(1)	p.C471C(1)	breast(1)								c.(1438-1440)tgC>tgT		zinc finger and BTB domain containing 18							63.0	62.0	62.0					1																	244218516		2203	4300	6503	SO:0001819	synonymous_variant	10472							g.chr1:244218516C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1440C>T	1.37:g.244218516C>T							p.C480C	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1589	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	c.1440C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	3.216	-0.160621	0.06502	.	.	ENSG00000179456	ENST00000366538	.	.	.	5.78	-3.6	0.04570	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.7284	0.62771	0.0:0.29:0.0:0.71	.	.	.	.	X	469	.	ENSP00000355496:R469X	R	+	1	2	ZNF238	242285139	0.885000	0.30320	0.957000	0.39632	0.995000	0.86356	0.017000	0.13399	-0.597000	0.05813	-0.137000	0.14449	CGA		0.597	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		23	44	0	0	0	1	0	23	44				
CHRNA1	1134	broad.mit.edu	37	2	175613338	175613338	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175613338C>A	ENST00000261007.5	-	9	1353	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	CHRNA1_ENST00000348749.5_Missense_Mutation_p.E404D|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000409542.1_Missense_Mutation_p.E322D	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	429					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	ACTTCATGGTCTCTGCGATGT	0.502											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(1210-1212)gaG>gaT		cholinergic receptor, nicotinic, alpha 1 (muscle)							117.0	105.0	109.0					2																	175613338		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175613338C>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1287G>T	2.37:g.175613338C>A	ENSP00000261007:p.Glu429Asp		OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.E322D|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000261007.5_Missense_Mutation_p.E429D	p.E404D	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			8	1289	-			429					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.1212G>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572854	0.45798	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542	D;D;D	0.82255	-1.59;-1.59;-1.59	5.51	4.4	0.53042	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.133714	0.64402	D	0.000002	T	0.72906	0.3519	L	0.42245	1.32	0.80722	D	1	B;B	0.22480	0.07;0.0	B;B	0.27796	0.083;0.015	T	0.62397	-0.6863	10	0.11485	T	0.65	.	7.2607	0.26201	0.0:0.8095:0.0:0.1905	.	404;429	Q53SH4;P02708	.;ACHA_HUMAN	D	404;429;322	ENSP00000261008:E404D;ENSP00000261007:E429D;ENSP00000387026:E322D	ENSP00000261007:E429D	E	-	3	2	CHRNA1	175321584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.646000	0.37249	2.746000	0.94184	0.655000	0.94253	GAG		0.502	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			8	61	1	0	0.0381472	1	0.0390147	8	61				
SAMHD1	25939	broad.mit.edu	37	20	35575193	35575193	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35575193C>A	ENST00000262878.4	-	2	422	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	SAMHD1_ENST00000373694.5_De_novo_Start_OutOfFrame	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	75	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGTAATGCGCCTGTGATTTCA	0.323																																						ENST00000373694.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20								SAM domain and HD domain 1							77.0	74.0	75.0					20																	35575193		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35575193C>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.223G>T	20.37:g.35575193C>A	ENSP00000262878:p.Gly75Cys					SAMHD1_ENST00000262878.4_Missense_Mutation_p.G75C				Q9Y3Z3	SAMH1_HUMAN			0	287	-		Myeloproliferative disorder(115;0.00878)						B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Translation_Start_Site	SNP	ENST00000262878.4	37		CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719342	0.48728	.	.	ENSG00000101347	ENST00000262878	D	0.89343	-2.5	4.32	4.32	0.51571	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.95579	0.8563	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96185	0.9133	10	0.87932	D	0	-22.008	12.5006	0.55953	0.0:1.0:0.0:0.0	.	75	Q9Y3Z3	SAMH1_HUMAN	C	75	ENSP00000262878:G75C	ENSP00000262878:G75C	G	-	1	0	SAMHD1	35008607	0.475000	0.25894	0.965000	0.40720	0.450000	0.32258	2.171000	0.42453	2.391000	0.81399	0.563000	0.77884	GGC		0.323	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		6	20	1	0	0.0215528	1	0.0221649	6	20				
GMIP	51291	broad.mit.edu	37	19	19745654	19745654	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19745654A>G	ENST00000203556.4	-	17	1971	c.1834T>C	c.(1834-1836)Tcg>Ccg	p.S612P	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.S586P|GMIP_ENST00000445806.2_Missense_Mutation_p.S583P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	612	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGTTCCCCGACAGCTCCACC	0.642																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1834-1836)Tcg>Ccg		GEM interacting protein							49.0	49.0	49.0					19																	19745654		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745654A>G	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1834T>C	19.37:g.19745654A>G	ENSP00000203556:p.Ser612Pro					GMIP_ENST00000445806.2_Missense_Mutation_p.S583P|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.S586P	p.S612P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			17	1971	-			612			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1834T>C	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228023	0.79576	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.47528	0.84;0.84	5.07	5.07	0.68467	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.35436	N	0.003204	T	0.74520	0.3727	M	0.92459	3.31	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.97110	1.0;0.988;1.0	T	0.81004	-0.1129	10	0.72032	D	0.01	-12.182	12.7684	0.57405	1.0:0.0:0.0:0.0	.	583;586;612	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	P	612;583	ENSP00000203556:S612P;ENSP00000397075:S583P	ENSP00000203556:S612P	S	-	1	0	GMIP	19606654	1.000000	0.71417	0.787000	0.31911	0.885000	0.51271	6.914000	0.75764	1.911000	0.55334	0.459000	0.35465	TCG		0.642	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		3	69	0	0	0	1	0	3	69				
KBTBD7	84078	broad.mit.edu	37	13	41766997	41766997	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41766997A>G	ENST00000379483.3	-	1	1705	c.1397T>C	c.(1396-1398)tTg>tCg	p.L466S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	466										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGAGCCACCAATGCCCACTG	0.448																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1396-1398)tTg>tCg		kelch repeat and BTB (POZ) domain containing 7							92.0	84.0	87.0					13																	41766997		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766997A>G	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1397T>C	13.37:g.41766997A>G	ENSP00000368797:p.Leu466Ser						p.L466S	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1705	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	466					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1397T>C	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848318	0.32699	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.77098	-1.07	5.5	5.5	0.81552	Kelch-type beta propeller (1);	0.154478	0.34777	N	0.003681	T	0.78672	0.4320	L	0.35288	1.05	0.39372	D	0.966108	D	0.76494	0.999	D	0.72338	0.977	T	0.74106	-0.3772	10	0.05959	T	0.93	.	13.5482	0.61717	1.0:0.0:0.0:0.0	.	466	Q8WVZ9	KBTB7_HUMAN	S	466;368	ENSP00000368797:L466S	ENSP00000368797:L466S	L	-	2	0	KBTBD7	40664997	0.900000	0.30661	0.767000	0.31495	0.316000	0.28119	8.132000	0.89603	2.078000	0.62432	0.528000	0.53228	TTG		0.448	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		3	54	0	0	0	1	0	3	54				
VPS13B	157680	broad.mit.edu	37	8	100205171	100205171	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100205171A>G	ENST00000358544.2	+	17	2512	c.2401A>G	c.(2401-2403)Aca>Gca	p.T801A	VPS13B_ENST00000357162.2_Missense_Mutation_p.T801A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T801A|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000395996.1_Missense_Mutation_p.T801A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	801					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATTCAAGCTACAAGAGCACA	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2401-2403)Aca>Gca		vacuolar protein sorting 13 homolog B (yeast)							133.0	125.0	128.0					8																	100205171		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100205171A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2401A>G	8.37:g.100205171A>G	ENSP00000351346:p.Thr801Ala					VPS13B_ENST00000358544.2_Missense_Mutation_p.T801A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T801A|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Missense_Mutation_p.T801A	p.T801A			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		17	2512	+	Breast(36;3.73e-07)		801					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2401A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204214	0.79127	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	D;D;D;T	0.87650	-2.28;-1.82;-1.82;-1.48	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000004	D	0.88654	0.6495	N	0.24115	0.695	0.50313	D	0.99986	D;D;D;D;D	0.89917	0.998;0.996;0.993;1.0;1.0	D;D;D;D;D	0.83275	0.994;0.987;0.978;0.996;0.996	D	0.90425	0.4420	10	0.87932	D	0	.	14.3366	0.66595	1.0:0.0:0.0:0.0	.	801;801;801;801;801	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	A	801	ENSP00000347281:T801A;ENSP00000349685:T801A;ENSP00000351346:T801A;ENSP00000379318:T801A	ENSP00000347281:T801A	T	+	1	0	VPS13B	100274347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.224000	0.89781	1.781000	0.52344	0.377000	0.23210	ACA		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	83	0	0	0	1	0	6	83				
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2716-2718)Gca>Aca		zinc finger and BTB domain containing 38							57.0	58.0	58.0					3																	141163946		1996	4166	6162	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163946G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2716G>A	3.37:g.141163946G>A	ENSP00000426387:p.Ala906Thr					ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T	p.A906T			Q8NAP3	ZBT38_HUMAN			4	2995	+			906						Missense_Mutation	SNP	ENST00000514251.1	37	c.2716G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394767	0.25205	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08720	3.06;3.06;3.06	5.28	4.4	0.53042	.	0.616774	0.14640	N	0.307266	T	0.07773	0.0195	L	0.40543	1.245	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.06405	0.002;0.002	T	0.31752	-0.9932	9	.	.	.	-4.0819	9.2626	0.37621	0.0766:0.1457:0.7777:0.0	.	907;906	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	906;906;907	ENSP00000426387:A906T;ENSP00000406955:A906T;ENSP00000372635:A907T	.	A	+	1	0	ZBTB38	142646636	0.034000	0.19679	0.004000	0.12327	0.794000	0.44872	1.838000	0.39211	1.227000	0.43598	0.650000	0.86243	GCA		0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			16	28	0	0	0	1	0	16	28				
METTL14	57721	broad.mit.edu	37	4	119625123	119625123	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119625123G>T	ENST00000388822.5	+	9	939	c.772G>T	c.(772-774)Gat>Tat	p.D258Y	METTL14_ENST00000506780.1_Missense_Mutation_p.D220Y			Q9HCE5	MET14_HUMAN	methyltransferase like 14	258					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AAGATGTGAAGATATTTGTTG	0.303																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(772-774)Gat>Tat		methyltransferase like 14							75.0	76.0	76.0					4																	119625123		2203	4299	6502	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119625123G>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.772G>T	4.37:g.119625123G>T	ENSP00000373474:p.Asp258Tyr					METTL14_ENST00000506780.1_Missense_Mutation_p.D220Y	p.D258Y			Q9HCE5	MTL14_HUMAN			9	939	+			258					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.772G>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	-	26.6	4.754597	0.89843	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.45668	0.89;0.89	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69024	0.3065	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72074	-0.4400	10	0.87932	D	0	-13.7002	19.8012	0.96507	0.0:0.0:1.0:0.0	.	220;258	D6RBL4;Q9HCE5	.;MTL14_HUMAN	Y	258;220	ENSP00000373474:D258Y;ENSP00000424111:D220Y	ENSP00000373474:D258Y	D	+	1	0	METTL14	119844571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.163000	0.94750	2.767000	0.95098	0.585000	0.79938	GAT		0.303	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		5	36	1	0	0.217242	1	0.218821	5	36				
RYR3	6263	broad.mit.edu	37	15	34042459	34042459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34042459C>A	ENST00000389232.4	+	57	8441	c.8371C>A	c.(8371-8373)Ctc>Atc	p.L2791I	RYR3_ENST00000415757.3_Missense_Mutation_p.L2791I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2791	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTTAAGTTCCTCCAAGTGAA	0.502																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8371-8373)Ctc>Atc		ryanodine receptor 3							87.0	82.0	84.0					15																	34042459		1945	4159	6104	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34042459C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8371C>A	15.37:g.34042459C>A	ENSP00000373884:p.Leu2791Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.L2791I	p.L2791I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	57	8441	+		all_lung(180;7.18e-09)	2791			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8371C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213023	0.79352	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.94723	-3.5;-3.5	4.75	4.75	0.60458	Ryanodine receptor Ryr (1);	0.145053	0.42821	D	0.000643	D	0.96097	0.8728	L	0.46614	1.455	0.52099	D	0.999948	P;D	0.76494	0.698;0.999	P;D	0.91635	0.711;0.999	D	0.96112	0.9078	10	0.54805	T	0.06	.	18.2902	0.90127	0.0:1.0:0.0:0.0	.	2791;2791	Q15413-2;Q15413	.;RYR3_HUMAN	I	2791	ENSP00000373884:L2791I;ENSP00000399610:L2791I	ENSP00000354735:L2791I	L	+	1	0	RYR3	31829751	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.742000	0.62103	2.619000	0.88677	0.655000	0.94253	CTC		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	22	1	0	0.115264	1	0.117355	3	22				
XPO7	23039	broad.mit.edu	37	8	21833992	21833992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21833992C>T	ENST00000252512.9	+	7	823	c.723C>T	c.(721-723)gaC>gaT	p.D241D	XPO7_ENST00000433566.4_Silent_p.D242D|XPO7_ENST00000434536.1_Silent_p.D250D|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	241					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGTCCTCAGACGACCTGTGTA	0.498																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(748-750)gaC>gaT		exportin 7							120.0	117.0	118.0					8																	21833992		2023	4214	6237	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21833992C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.723C>T	8.37:g.21833992C>T						XPO7_ENST00000252512.9_Silent_p.D241D|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Silent_p.D242D	p.D250D			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	7	852	+			241					O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.750C>T	CCDS47818.1																																																																																				0.498	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		34	64	0	0	0	1	0	34	64				
SF3B1	23451	broad.mit.edu	37	2	198265071	198265071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198265071C>T	ENST00000335508.6	-	19	2897	c.2806G>A	c.(2806-2808)Gtt>Att	p.V936I	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	936					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGCCACAAAACTGTACCACAG	0.403			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2806-2808)Gtt>Att		splicing factor 3b, subunit 1, 155kDa							114.0	112.0	112.0					2																	198265071		2203	4299	6502	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265071C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2806G>A	2.37:g.198265071C>T	ENSP00000335321:p.Val936Ile						p.V936I	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		19	2897	-			936					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2806G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373216	0.24857	.	.	ENSG00000115524	ENST00000335508	T	0.63096	-0.02	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	N	0.00260	-1.75	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52230	-0.8603	10	0.02654	T	1	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	936	O75533	SF3B1_HUMAN	I	936	ENSP00000335321:V936I	ENSP00000335321:V936I	V	-	1	0	SF3B1	197973316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.691000	0.84191	2.941000	0.99782	0.655000	0.94253	GTT		0.403	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			46	54	0	0	0	1	0	46	54				
CAND2	23066	broad.mit.edu	37	3	12858532	12858532	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858532G>A	ENST00000456430.2	+	10	2142	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	CAND2_ENST00000295989.5_Missense_Mutation_p.A608T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	701					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGCTGCCTGCCCTGGTCAA	0.672																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2101-2103)Gcc>Acc		cullin-associated and neddylation-dissociated 2 (putative)							23.0	25.0	25.0					3																	12858532		2148	4244	6392	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858532G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2101G>A	3.37:g.12858532G>A	ENSP00000387641:p.Ala701Thr					CAND2_ENST00000295989.5_Missense_Mutation_p.A608T	p.A701T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	2142	+			701					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2101G>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005038	0.19199	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64618	-0.11;-0.11	4.98	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.267862	0.34725	N	0.003722	T	0.63815	0.2543	L	0.43701	1.375	0.25262	N	0.989587	B;D	0.71674	0.017;0.998	B;D	0.78314	0.016;0.991	T	0.52487	-0.8569	10	0.18710	T	0.47	-18.8509	5.5032	0.16840	0.0838:0.1395:0.6334:0.1433	.	701;608	O75155;O75155-2	CAND2_HUMAN;.	T	608;701	ENSP00000295989:A608T;ENSP00000387641:A701T	ENSP00000295989:A608T	A	+	1	0	CAND2	12833532	0.618000	0.27051	0.202000	0.23494	0.867000	0.49689	2.006000	0.40874	0.598000	0.29829	0.561000	0.74099	GCC		0.672	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		4	33	0	0	0	1	0	4	33				
C12orf40	283461	broad.mit.edu	37	12	40020150	40020150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40020150C>T	ENST00000324616.5	+	1	166	c.12C>T	c.(10-12)gtC>gtT	p.V4V	C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Silent_p.V4V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	4								p.V4V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542																																						ENST00000324616.5																			1	Substitution - coding silent(1)	p.V4V(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(10-12)gtC>gtT		chromosome 12 open reading frame 40							77.0	88.0	85.0					12																	40020150		1903	4118	6021	SO:0001819	synonymous_variant	283461							g.chr12:40020150C>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.12C>T	12.37:g.40020150C>T						C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Silent_p.V4V	p.V4V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			1	166	+			4					B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	c.12C>T	CCDS41770.1																																																																																				0.542	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		11	7	0	0	0	1	0	11	7				
ZBTB14	7541	broad.mit.edu	37	18	5291622	5291622	+	Silent	SNP	G	G	A	rs576538238		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5291622G>A	ENST00000357006.4	-	4	923	c.585C>T	c.(583-585)ctC>ctT	p.L195L	ZBTB14_ENST00000400143.3_Silent_p.L195L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	195					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CCTGAACCCTGAGCGTTGTGG	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17824	0.0		0.0	False		,,,				2504	0.0					ENST00000357006.4																			0											c.(583-585)ctC>ctT		zinc finger and BTB domain containing 14							145.0	143.0	144.0					18																	5291622		2203	4300	6503	SO:0001819	synonymous_variant	7541							g.chr18:5291622G>A	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.585C>T	18.37:g.5291622G>A						ZBTB14_ENST00000400143.3_Silent_p.L195L	p.L195L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	923	-								O00403|Q2TB80	Silent	SNP	ENST00000357006.4	37	c.585C>T	CCDS11837.1																																																																																				0.542	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		47	88	0	0	0	1	0	47	88				
MLLT4	4301	broad.mit.edu	37	6	168352039	168352039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352039G>A	ENST00000447894.2	+	29	3984	c.3984G>A	c.(3982-3984)tcG>tcA	p.S1328S	MLLT4_ENST00000366806.2_Silent_p.S1328S|MLLT4_ENST00000392108.3_Silent_p.S1328S|MLLT4_ENST00000392112.1_Silent_p.S1311S|MLLT4_ENST00000344191.4_Silent_p.S1328S|MLLT4_ENST00000351017.4_Silent_p.S1335S|MLLT4_ENST00000400822.3_Silent_p.S1327S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1328					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCTCTAAGTCGGTCACCCCTG	0.547			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3982-3984)tcG>tcA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89.0	101.0	97.0					6																	168352039		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352039G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3984G>A	6.37:g.168352039G>A						MLLT4_ENST00000400822.3_Silent_p.S1327S|MLLT4_ENST00000392112.1_Silent_p.S1311S|MLLT4_ENST00000344191.4_Silent_p.S1328S|MLLT4_ENST00000351017.4_Silent_p.S1335S|MLLT4_ENST00000392108.3_Silent_p.S1328S|MLLT4_ENST00000447894.2_Silent_p.S1328S	p.S1328S			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4126	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1328					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.3984G>A																																																																																					0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		8	111	0	0	0	1	0	8	111				
DBF4	10926	broad.mit.edu	37	7	87536520	87536520	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536520G>T	ENST00000265728.1	+	12	1571	c.1067G>T	c.(1066-1068)gGa>gTa	p.G356V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	356					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TACAGTGTTGGATCCCTTTCT	0.299																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(1066-1068)gGa>gTa		DBF4 homolog (S. cerevisiae)							43.0	49.0	47.0					7																	87536520		2198	4296	6494	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536520G>T	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1067G>T	7.37:g.87536520G>T	ENSP00000265728:p.Gly356Val						p.G356V	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			12	1571	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	356					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1067G>T	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757134	0.69648	.	.	ENSG00000006634	ENST00000265728	T	0.34667	1.35	5.81	4.93	0.64822	.	0.268593	0.32533	N	0.005976	T	0.42449	0.1203	L	0.36672	1.1	0.58432	D	0.999999	D;P	0.56746	0.977;0.891	P;P	0.55785	0.784;0.688	T	0.28996	-1.0026	10	0.87932	D	0	-8.2244	12.6136	0.56563	0.076:0.0:0.924:0.0	.	132;356	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	V	356	ENSP00000265728:G356V	ENSP00000265728:G356V	G	+	2	0	DBF4	87374456	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.434000	0.52841	2.756000	0.94617	0.655000	0.94253	GGA		0.299	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		20	67	1	0	2.4624e-09	1	2.98951e-09	20	67				
POMT2	29954	broad.mit.edu	37	14	77767459	77767459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77767459G>T	ENST00000261534.4	-	6	992	c.790C>A	c.(790-792)Ctg>Atg	p.L264M	POMT2_ENST00000556880.1_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	264						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCTCCGAACAGGTACCAAAGG	0.507											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(790-792)Ctg>Atg		protein-O-mannosyltransferase 2							144.0	139.0	140.0					14																	77767459		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77767459G>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.790C>A	14.37:g.77767459G>T	ENSP00000261534:p.Leu264Met		OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.L264M	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	6	992	-			264					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.790C>A	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551891	0.65311	.	.	ENSG00000009830	ENST00000261534	D	0.86956	-2.19	5.75	5.75	0.90469	Glycosyl transferase, family 39 (1);	0.000000	0.64402	D	0.000001	D	0.91520	0.7322	M	0.75447	2.3	0.58432	D	0.999999	D	0.69078	0.997	D	0.77004	0.989	D	0.90715	0.4630	10	0.48119	T	0.1	-9.826	7.5345	0.27702	0.1961:0.0:0.8039:0.0	.	264	Q9UKY4	POMT2_HUMAN	M	264	ENSP00000261534:L264M	ENSP00000261534:L264M	L	-	1	2	POMT2	76837212	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	5.341000	0.65964	2.708000	0.92522	0.655000	0.94253	CTG		0.507	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		7	150	1	0	1.12685e-05	1	1.27857e-05	7	150				
CELA1	1990	broad.mit.edu	37	12	51736377	51736377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736377C>T	ENST00000293636.1	-	4	348	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S103N(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGTTATCGCTGTTCCAGTA	0.572																																						ENST00000293636.1																			1	Substitution - Missense(1)	p.S103N(1)	breast(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(307-309)aGc>aAc		chymotrypsin-like elastase family, member 1							180.0	138.0	152.0					12																	51736377		2203	4300	6503	SO:0001583	missense	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51736377C>T		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.308G>A	12.37:g.51736377C>T	ENSP00000293636:p.Ser103Asn						p.S103N	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			4	348	-			103			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	c.308G>A	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092424	0.36952	.	.	ENSG00000139610	ENST00000293636	D	0.89415	-2.51	5.15	0.291	0.15732	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.603481	0.19144	N	0.121615	D	0.83198	0.5202	N	0.21373	0.66	0.24793	N	0.992745	B	0.26602	0.154	B	0.38755	0.281	T	0.74601	-0.3611	10	0.41790	T	0.15	-9.9704	11.5656	0.50802	0.0:0.5219:0.4024:0.0757	.	103	Q9UNI1	CELA1_HUMAN	N	103	ENSP00000293636:S103N	ENSP00000293636:S103N	S	-	2	0	CELA1	50022644	0.002000	0.14202	0.868000	0.34077	0.856000	0.48823	-0.603000	0.05674	0.212000	0.20703	0.561000	0.74099	AGC		0.572	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		36	57	0	0	0	1	0	36	57				
PSMD3	5709	broad.mit.edu	37	17	38140580	38140580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38140580C>T	ENST00000264639.4	+	2	428	c.254C>T	c.(253-255)gCg>gTg	p.A85V	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTAGAGAAAGCGGTTTCAGGC	0.537																																					Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(253-255)gCg>gTg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3							68.0	63.0	65.0					17																	38140580		2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38140580C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.254C>T	17.37:g.38140580C>T	ENSP00000264639:p.Ala85Val					PSMD3_ENST00000541736.1_Intron	p.A85V	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN			2	428	+	Colorectal(19;0.000442)		85					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.254C>T	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697224	0.88830	.	.	ENSG00000108344	ENST00000264639;ENST00000415039	D	0.88201	-2.35	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	P	0.54270	0.747	D	0.93004	0.6426	10	0.87932	D	0	-15.4878	19.6014	0.95563	0.0:1.0:0.0:0.0	.	85	O43242	PSMD3_HUMAN	V	85;72	ENSP00000264639:A85V	ENSP00000264639:A85V	A	+	2	0	PSMD3	35394106	1.000000	0.71417	0.972000	0.41901	0.737000	0.42083	7.450000	0.80656	2.854000	0.98071	0.655000	0.94253	GCG		0.537	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		6	46	0	0	0	1	0	6	46				
SLC2A3	6515	broad.mit.edu	37	12	8074122	8074122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8074122C>A	ENST00000075120.7	-	10	1618	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y	SLC2A3_ENST00000543435.1_5'Flank	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	460					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CGTGTGATATCCTCAAAAGTC	0.502																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1378-1380)Gat>Tat		solute carrier family 2 (facilitated glucose transporter), member 3							127.0	129.0	129.0					12																	8074122		2203	4298	6501	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8074122C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1378G>T	12.37:g.8074122C>A	ENSP00000075120:p.Asp460Tyr						p.D460Y	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	10	1618	-			460					B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.1378G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893822	0.72639	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	D	0.81908	-1.55	3.86	2.87	0.33458	Major facilitator superfamily domain, general substrate transporter (1);	0.459309	0.24417	N	0.038701	D	0.90195	0.6935	M	0.92923	3.36	0.41253	D	0.986727	P	0.46277	0.875	P	0.54590	0.756	D	0.92042	0.5641	10	0.87932	D	0	.	11.1945	0.48704	0.0:0.8115:0.1885:0.0	.	460	P11169	GTR3_HUMAN	Y	460;386	ENSP00000075120:D460Y	ENSP00000075120:D460Y	D	-	1	0	SLC2A3	7965389	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	3.283000	0.51701	2.139000	0.66308	0.491000	0.48974	GAT		0.502	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		5	172	1	0	0.00116845	1	0.00124821	5	172				
ACOX1	51	broad.mit.edu	37	17	73969727	73969727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73969727C>T	ENST00000301608.4	-	3	469	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000591857.1_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	137					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TCCGTCTGGGCGTAGGTGCCA	0.478																																						ENST00000301608.4																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(409-411)Gcc>Acc		acyl-CoA oxidase 1, palmitoyl							95.0	85.0	88.0					17																	73969727		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73969727C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.409G>A	17.37:g.73969727C>T	ENSP00000301608:p.Ala137Thr					ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000537812.1_Intron	p.A137T	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN			3	469	-			137					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.409G>A	CCDS11735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014041|5.014041	0.93404|0.93404	.|.	.|.	ENSG00000161533|ENSG00000161533	ENST00000301608|ENST00000538781	D|.	0.97430|.	-4.38|.	5.06|5.06	4.09|4.09	0.47781|0.47781	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);|.	.|.	.|.	.|.	.|.	T|T	0.74122|0.74122	0.3675|0.3675	H|H	0.97852|0.97852	4.09|4.09	0.32099|0.32099	N|N	0.590869|0.590869	D|B	0.76494|0.13145	0.999|0.007	D|B	0.69142|0.10450	0.962|0.005	T|T	0.76315|0.76315	-0.3004|-0.3004	9|8	0.87932|0.15499	D|T	0|0.54	-28.9165|-28.9165	14.125|14.125	0.65215|0.65215	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	137|15	Q15067|F5H0M0	ACOX1_HUMAN|.	T|H	137|15	ENSP00000301608:A137T|.	ENSP00000301608:A137T|ENSP00000438771:R15H	A|R	-|-	1|2	0|0	ACOX1|ACOX1	71481322|71481322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.408000|7.408000	0.80041|0.80041	1.492000|1.492000	0.48499|0.48499	0.643000|0.643000	0.83706|0.83706	GCC|CGC		0.478	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			13	27	0	0	0	1	0	13	27				
MDFI	4188	broad.mit.edu	37	6	41617440	41617440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41617440C>T	ENST00000373050.4	+	3	347	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W				Q99750	MDFI_HUMAN	MyoD family inhibitor	115					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CGGCACCAGACGGGCGGGGAA	0.647																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(160-162)Cgg>Tgg		MyoD family inhibitor							101.0	118.0	113.0					6																	41617440		2203	4300	6503	SO:0001583	missense	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41617440C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.160C>T	6.37:g.41617440C>T	ENSP00000362141:p.Arg54Trp						p.R54W			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		3	347	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		115						Missense_Mutation	SNP	ENST00000373050.4	37	c.160C>T		.	.	.	.	.	.	.	.	.	.	C	12.82	2.053578	0.36277	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000446650;ENST00000435476	.	.	.	5.64	2.57	0.30868	.	1.016980	0.07871	N	0.967855	T	0.20495	0.0493	L	0.54323	1.7	0.09310	N	1	D	0.60160	0.987	P	0.46825	0.528	T	0.16158	-1.0412	9	0.72032	D	0.01	-11.884	4.7081	0.12860	0.1621:0.5351:0.0:0.3028	.	115	Q99750	MDFI_HUMAN	W	115;115;115;115;115;54;115;54	.	ENSP00000230321:R115W	R	+	1	2	MDFI	41725418	0.006000	0.16342	0.128000	0.21923	0.113000	0.19764	0.720000	0.25896	0.736000	0.32559	0.655000	0.94253	CGG		0.647	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		16	181	0	0	0	1	0	16	181				
PCDHB4	56131	broad.mit.edu	37	5	140503114	140503114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503114C>A	ENST00000194152.1	+	1	1534	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGGCCACCTGTTCGCCCT	0.692																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1534-1536)Ctg>Atg									52.0	58.0	56.0					5																	140503114		2193	4281	6474	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503114C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1534C>A	5.37:g.140503114C>A	ENSP00000194152:p.Leu512Met						p.L512M	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1534	+			512			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1534C>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965031	0.18583	.	.	ENSG00000081818	ENST00000194152	T	0.67345	-0.26	4.1	4.1	0.47936	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.76090	0.3939	L	0.52823	1.66	0.24037	N	0.996093	D	0.89917	1.0	D	0.97110	1.0	T	0.63897	-0.6533	9	0.72032	D	0.01	.	9.3561	0.38168	0.1579:0.6885:0.1536:0.0	.	512	Q9Y5E5	PCDB4_HUMAN	M	512	ENSP00000194152:L512M	ENSP00000194152:L512M	L	+	1	2	PCDHB4	140483298	0.020000	0.18652	0.982000	0.44146	0.086000	0.17979	0.277000	0.18734	2.307000	0.77673	0.650000	0.86243	CTG		0.692	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		23	53	1	0	9.73076e-26	1	1.29479e-25	23	53				
NEU4	129807	broad.mit.edu	37	2	242757436	242757436	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242757436C>T	ENST00000391969.2	+	5	1228	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	NEU4_ENST00000404257.1_Silent_p.L185L|NEU4_ENST00000405370.1_Silent_p.L173L|NEU4_ENST00000325935.6_Silent_p.L186L|NEU4_ENST00000407683.1_Silent_p.L173L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	173					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGGCCGCCTGCTGGTACCCGC	0.677																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(517-519)Ctg>Ttg		sialidase 4							53.0	38.0	43.0					2																	242757436		2198	4297	6495	SO:0001819	synonymous_variant	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757436C>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.517C>T	2.37:g.242757436C>T						NEU4_ENST00000404257.1_Silent_p.L185L|NEU4_ENST00000405370.1_Silent_p.L173L|NEU4_ENST00000325935.6_Silent_p.L186L|NEU4_ENST00000407683.1_Silent_p.L173L	p.L173L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	5	1228	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	173					A8K056|J3KNJ5|Q96D64	Silent	SNP	ENST00000391969.2	37	c.517C>T	CCDS54442.1																																																																																				0.677	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		4	9	0	0	0	1	0	4	9				
IGSF22	283284	broad.mit.edu	37	11	18737093	18737093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18737093C>T	ENST00000513874.1	-	11	1556	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	473	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCAGCTCTGCTCGCTTGCCC	0.532																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1417-1419)Gca>Aca		immunoglobulin superfamily, member 22							133.0	129.0	130.0					11																	18737093		2198	4288	6486	SO:0001583	missense	283284							g.chr11:18737093C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1417G>A	11.37:g.18737093C>T	ENSP00000421191:p.Ala473Thr					RP11-1081L13.4_ENST00000527285.1_RNA	p.A473T	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			11	1556	-			473			Ig-like 3.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1417G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382111	0.61845	.	.	ENSG00000179057	ENST00000513874	T	0.67171	-0.25	4.79	3.86	0.44501	.	0.000000	0.38778	N	0.001566	T	0.67040	0.2851	L	0.31476	0.935	0.29207	N	0.874849	D	0.76494	0.999	D	0.81914	0.995	T	0.59289	-0.7482	10	0.11182	T	0.66	.	10.435	0.44430	0.0:0.9065:0.0:0.0935	.	473	D6RGV7	.	T	473	ENSP00000421191:A473T	ENSP00000322422:A473T	A	-	1	0	IGSF22	18693669	0.989000	0.36119	0.794000	0.32065	0.551000	0.35334	2.761000	0.47589	0.975000	0.38392	0.455000	0.32223	GCA		0.532	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		6	70	0	0	0	1	0	6	70				
SNX27	81609	broad.mit.edu	37	1	151630870	151630870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151630870C>T	ENST00000458013.2	+	3	823	c.703C>T	c.(703-705)Cga>Tga	p.R235*	SNX27_ENST00000368843.3_Nonsense_Mutation_p.R235*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.R142*			Q96L92	SNX27_HUMAN	sorting nexin family member 27	235	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTAGATGCCCGACGTCGGGG	0.403																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(703-705)Cga>Tga		sorting nexin family member 27							100.0	99.0	100.0					1																	151630870		2203	4300	6503	SO:0001587	stop_gained	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151630870C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.703C>T	1.37:g.151630870C>T	ENSP00000400333:p.Arg235*					SNX27_ENST00000458013.2_Nonsense_Mutation_p.R235*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.R142*	p.R235*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	823	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		235			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Nonsense_Mutation	SNP	ENST00000458013.2	37	c.703C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.058821	0.98032	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6433	0.91402	0.0:1.0:0.0:0.0	.	.	.	.	X	235;235;142	.	ENSP00000357831:R142X	R	+	1	2	SNX27	149897494	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	2.999000	0.49473	2.747000	0.94245	0.650000	0.86243	CGA		0.403	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		5	118	0	0	0	1	0	5	118				
NALCN	259232	broad.mit.edu	37	13	101735165	101735165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101735165G>A	ENST00000251127.6	-	33	3841	c.3760C>T	c.(3760-3762)Ctg>Ttg	p.L1254L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1254					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTACCTCCAGAACAAAGATG	0.493																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3760-3762)Ctg>Ttg		sodium leak channel, non-selective							119.0	113.0	115.0					13																	101735165		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735165G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3760C>T	13.37:g.101735165G>A							p.L1254L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			33	3841	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1254					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.3760C>T	CCDS9498.1																																																																																				0.493	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	54	0	0	0	1	0	8	54				
MKI67	4288	broad.mit.edu	37	10	129900968	129900968	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129900968C>A	ENST00000368654.3	-	13	9511	c.9136G>T	c.(9136-9138)Gtc>Ttc	p.V3046F	MKI67_ENST00000368653.3_Missense_Mutation_p.V2686F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3046					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCATGATGACCACGGGTTCG	0.502																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9136-9138)Gtc>Ttc		marker of proliferation Ki-67							168.0	158.0	161.0					10																	129900968		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129900968C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9136G>T	10.37:g.129900968C>A	ENSP00000357643:p.Val3046Phe					MKI67_ENST00000368653.3_Missense_Mutation_p.V2686F	p.V3046F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9511	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3046					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9136G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838524	0.32513	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01359	5.02;4.98	3.98	-2.75	0.05914	.	5.274270	0.00622	N	0.000441	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	D;D;D	0.59767	0.986;0.986;0.976	P;P;P	0.50754	0.534;0.649;0.447	T	0.37572	-0.9700	10	0.56958	D	0.05	.	5.7739	0.18269	0.0:0.1718:0.1659:0.6623	.	3045;2686;3046	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	F	3046;2686;3045	ENSP00000357643:V3046F;ENSP00000357642:V2686F	ENSP00000357642:V2686F	V	-	1	0	MKI67	129790958	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.216000	0.09266	-0.358000	0.08162	-0.136000	0.14681	GTC		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	121	1	0	2.17888e-05	1	2.45068e-05	9	121				
ZNF675	171392	broad.mit.edu	37	19	23836033	23836033	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23836033C>T	ENST00000359788.4	-	4	1870	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	568					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTATCACACATTCCAGTTC	0.299																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1702-1704)Gtg>Atg		zinc finger protein 675							118.0	118.0	118.0					19																	23836033		2201	4298	6499	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836033C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1702G>A	19.37:g.23836033C>T	ENSP00000352836:p.Val568Met					ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	p.V568M	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1870	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	568					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.1702G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	0.794	-0.757838	0.03019	.	.	ENSG00000197372	ENST00000359788	T	0.07327	3.2	0.886	-1.77	0.07982	.	.	.	.	.	T	0.11836	0.0288	M	0.75447	2.3	0.09310	N	0.999998	P	0.37061	0.58	B	0.40165	0.321	T	0.14144	-1.0483	9	0.87932	D	0	.	6.1342	0.20221	0.0:0.6341:0.0:0.3659	.	568	Q8TD23	ZN675_HUMAN	M	568	ENSP00000352836:V568M	ENSP00000352836:V568M	V	-	1	0	ZNF675	23627873	0.000000	0.05858	0.022000	0.16811	0.022000	0.10575	-4.058000	0.00304	-0.697000	0.05092	-0.683000	0.03753	GTG		0.299	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		11	23	0	0	0	1	0	11	23				
SPIN1	10927	broad.mit.edu	37	9	91083495	91083495	+	Silent	SNP	C	C	T	rs530981576		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91083495C>T	ENST00000375859.3	+	5	842	c.564C>T	c.(562-564)ggC>ggT	p.G188G	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.G188G	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	188	Tudor-like domain 2.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACAAAGAAGGCGACCTTCGCA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18393	0.0		0.0	False		,,,				2504	0.0					ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(562-564)ggC>ggT		spindlin 1							154.0	146.0	149.0					9																	91083495		2122	4249	6371	SO:0001819	synonymous_variant	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91083495C>T	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.564C>T	9.37:g.91083495C>T						SPIN1_ENST00000541629.1_Silent_p.G188G|SPIN1_ENST00000469017.2_3'UTR	p.G188G	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			5	842	+			188					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Silent	SNP	ENST00000375859.3	37	c.564C>T	CCDS43843.1																																																																																				0.378	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		36	48	0	0	0	1	0	36	48				
GCLC	2729	broad.mit.edu	37	6	53370255	53370255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370255A>G	ENST00000229416.6	-	12	1813	c.1330T>C	c.(1330-1332)Ttt>Ctt	p.F444L	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	444					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	AGTACCACAAACACCACATAG	0.418																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1330-1332)Ttt>Ctt		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						99.0	90.0	93.0					6																	53370255		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53370255A>G	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1330T>C	6.37:g.53370255A>G	ENSP00000229416:p.Phe444Leu					RP1-27K12.4_ENST00000508884.1_RNA	p.F444L	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			12	1813	-	Lung NSC(77;0.0137)		444					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.1330T>C	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879399	0.91740	.	.	ENSG00000001084	ENST00000229416	T	0.72942	-0.7	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81835	-0.0750	10	0.45353	T	0.12	.	16.3951	0.83601	1.0:0.0:0.0:0.0	.	444	P48506	GSH1_HUMAN	L	444	ENSP00000229416:F444L	ENSP00000229416:F444L	F	-	1	0	GCLC	53478214	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.339000	0.96797	2.272000	0.75746	0.460000	0.39030	TTT		0.418	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			4	48	0	0	0	1	0	4	48				
SNX33	257364	broad.mit.edu	37	15	75949440	75949440	+	Missense_Mutation	SNP	C	C	T	rs138286330		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75949440C>T	ENST00000308527.5	+	2	2806	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	537	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTCCACCAGCGCCGTGAGCT	0.632																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1609-1611)Cgc>Tgc		sorting nexin 33		C	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	113.0	94.0	100.0		1609	4.5	1.0	15	dbSNP_134	100	0,8588		0,0,4294	no	missense	SNX33	NM_153271.1	180	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	537/575	75949440	1,12981	2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75949440C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1609C>T	15.37:g.75949440C>T	ENSP00000311427:p.Arg537Cys						p.R537C	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			2	2806	+			537			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1609C>T	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525283	0.64747	2.28E-4	0.0	ENSG00000173548	ENST00000308527	T	0.46063	0.88	5.41	4.48	0.54585	Sorting nexin protein, WASP-binding domain (1);	0.053549	0.85682	D	0.000000	T	0.48995	0.1531	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.54815	0.761;0.761	T	0.51044	-0.8755	10	0.66056	D	0.02	-10.3743	12.4197	0.55514	0.3056:0.6944:0.0:0.0	.	537;537	B1NM17;Q8WV41	.;SNX33_HUMAN	C	537	ENSP00000311427:R537C	ENSP00000311427:R537C	R	+	1	0	SNX33	73736495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.756000	0.55205	1.254000	0.44035	0.591000	0.81541	CGC		0.632	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		26	28	0	0	0	1	0	26	28				
AHNAK2	113146	broad.mit.edu	37	14	105411331	105411331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411331G>A	ENST00000333244.5	-	7	10576	c.10457C>T	c.(10456-10458)tCg>tTg	p.S3486L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3486						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCCGACACCCCGAA	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10456-10458)tCg>tTg		AHNAK nucleoprotein 2							196.0	210.0	205.0					14																	105411331		1967	4142	6109	SO:0001583	missense	113146					nucleus		g.chr14:105411331G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10457C>T	14.37:g.105411331G>A	ENSP00000353114:p.Ser3486Leu					AHNAK2_ENST00000557457.1_Intron	p.S3486L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10576	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3486					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10457C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.617948	0.28801	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	4.15	4.15	0.48705	.	0.253695	0.20251	U	0.096067	T	0.04907	0.0132	M	0.91818	3.245	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.24154	-1.0168	10	0.30854	T	0.27	.	14.6207	0.68582	0.0:0.0:1.0:0.0	.	3486	Q8IVF2	AHNK2_HUMAN	L	3486	ENSP00000353114:S3486L	ENSP00000353114:S3486L	S	-	2	0	AHNAK2	104482376	0.001000	0.12720	0.011000	0.14972	0.004000	0.04260	0.884000	0.28214	1.861000	0.53984	0.313000	0.20887	TCG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		84	132	0	0	0	1	0	84	132				
ROBO2	6092	broad.mit.edu	37	3	77651375	77651375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77651375G>T	ENST00000461745.1	+	20	3769	c.2869G>T	c.(2869-2871)Gtt>Ttt	p.V957F	ROBO2_ENST00000487694.3_Missense_Mutation_p.V973F|ROBO2_ENST00000332191.8_Missense_Mutation_p.V957F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	957					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)		GCTGCCACCAGTTCCAGGCCA	0.438																																						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.(2869-2871)Gtt>Ttt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							100.0	99.0	99.0					3																	77651375		1999	4160	6159	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.chr3:77651375G>T	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.2869G>T	3.37:g.77651375G>T	ENSP00000417164:p.Val957Phe					ROBO2_ENST00000332191.8_Missense_Mutation_p.V957F|ROBO2_ENST00000487694.3_Missense_Mutation_p.V973F	p.V957F	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)	20	3769	+			957					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2869G>T	CCDS43109.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.15|16.15|16.15	3.040755|3.040755|3.040755	0.55003|0.55003|0.55003	.|.|.	.|.|.	ENSG00000185008|ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000471893|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|.|T;T;T	.|.|0.62105	.|.|0.05;0.09;0.08	5.83|5.83|5.83	5.83|5.83|5.83	0.93111|0.93111|0.93111	.|.|.	.|.|0.178533	.|.|0.25894	.|.|N	.|.|0.027606	T|T|T	0.43433|0.43433|0.43433	0.1247|0.1247|0.1247	N|N|N	0.08118|0.08118|0.08118	0|0|0	.|.|.	.|.|.	.|.|.	.|.|P;B;P	.|.|0.42785	.|.|0.79;0.397;0.761	.|.|B;B;B	.|.|0.35413	.|.|0.202;0.111;0.064	T|T|T	0.52208|0.52208|0.52208	-0.8606|-0.8606|-0.8606	4|4|9	.|.|0.33940	.|.|T	.|.|0.23	.|.|.	20.1236|20.1236|20.1236	0.97970|0.97970|0.97970	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|973;957;957	.|.|Q19AB5;F8W703;Q9HCK4	.|.|.;.;ROBO2_HUMAN	H|I|F	113|31|973;973;977;957;957	.|.|ENSP00000417335:V973F;ENSP00000417164:V957F;ENSP00000327536:V957F	.|.|ENSP00000327536:V957F	Q|S|V	+|+|+	3|2|1	2|0|0	ROBO2|ROBO2|ROBO2	77734065|77734065|77734065	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	7.159000|7.159000|7.159000	0.77483|0.77483|0.77483	2.765000|2.765000|2.765000	0.95021|0.95021|0.95021	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	CAG|AGT|GTT		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		4	37	1	0	0.00024832	1	0.0002712	4	37				
SUCNR1	56670	broad.mit.edu	37	3	151598783	151598783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151598783C>T	ENST00000362032.5	+	3	557	c.452C>T	c.(451-453)aCc>aTc	p.T151I	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	151						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTTTTAGTAACCTTAGAGTTA	0.378																																						ENST00000362032.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(451-453)aCc>aTc		succinate receptor 1	Succinic acid(DB00139)						130.0	131.0	131.0					3																	151598783		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598783C>T	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.452C>T	3.37:g.151598783C>T	ENSP00000355156:p.Thr151Ile					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.T151I	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	557	+			151					A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.452C>T	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	C	0.166	-1.076134	0.01903	.	.	ENSG00000198829	ENST00000362032	T	0.35236	1.32	5.28	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.218836	0.38164	U	0.001791	T	0.18841	0.0452	N	0.16016	0.355	0.26898	N	0.967166	B	0.29232	0.238	B	0.28011	0.085	T	0.18023	-1.0350	10	0.18276	T	0.48	.	8.6855	0.34234	0.0:0.7088:0.0:0.2912	.	151	Q9BXA5	SUCR1_HUMAN	I	151	ENSP00000355156:T151I	ENSP00000355156:T151I	T	+	2	0	SUCNR1	153081473	0.949000	0.32298	0.059000	0.19551	0.052000	0.14988	2.743000	0.47442	0.745000	0.32763	-0.136000	0.14681	ACC		0.378	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		62	94	0	0	0	1	0	62	94				
NCKAP5	344148	broad.mit.edu	37	2	133887564	133887564	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133887564C>A	ENST00000409261.1	-	6	700	c.327G>T	c.(325-327)caG>caT	p.Q109H	NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q109H|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q109H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q109H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	109										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAACTGCTGCTGCAAGCTAC	0.483																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(325-327)caG>caT		NCK-associated protein 5							92.0	92.0	92.0					2																	133887564		2007	4180	6187	SO:0001583	missense	344148						protein binding	g.chr2:133887564C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.327G>T	2.37:g.133887564C>A	ENSP00000387128:p.Gln109His					NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q109H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q109H|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q109H	p.Q109H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			6	700	-			109					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.327G>T	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.400691|3.400691	0.62177|0.62177	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.57436|.	2.37;0.4;2.37;0.4|.	6.17|6.17	4.39|4.39	0.52855|0.52855	.|.	.|.	.|.	.|.	.|.	T|T	0.32941|0.32941	0.0846|0.0846	L|L	0.27053|0.27053	0.805|0.805	0.27322|0.27322	N|N	0.957015|0.957015	D;D;D;D|.	0.89917|.	0.994;0.995;0.989;1.0|.	D;D;D;D|.	0.85130|.	0.931;0.914;0.912;0.997|.	T|T	0.18935|0.18935	-1.0321|-1.0321	9|5	0.87932|.	D|.	0|.	.|.	9.6065|9.6065	0.39637|0.39637	0.0:0.8408:0.0:0.1592|0.0:0.8408:0.0:0.1592	.|.	109;84;109;109|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	H|I	109;109;109;109;109;84|105	ENSP00000387128:Q109H;ENSP00000386952:Q109H;ENSP00000380603:Q109H;ENSP00000385692:Q109H|.	ENSP00000380603:Q109H|.	Q|S	-|-	3|2	2|0	NCKAP5|NCKAP5	133604034|133604034	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	1.646000|1.646000	0.37249|0.37249	0.950000|0.950000	0.37743|0.37743	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.483	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		9	12	1	0	3.09899e-07	1	3.63227e-07	9	12				
TCL1A	8115	broad.mit.edu	37	14	96178700	96178700	+	Missense_Mutation	SNP	G	G	A	rs543440244		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96178700G>A	ENST00000402399.1	-	2	283	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	TCL1A_ENST00000555202.1_Missense_Mutation_p.R52C|TCL1A_ENST00000556450.1_Missense_Mutation_p.R52C|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52C|RP11-164H13.1_ENST00000547644.2_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	52					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTTCCCGACGCAAGAGCACC	0.567			T	TRA@	T-CLL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		19211	0.0		0.0	False		,,,				2504	0.0				Ovarian(96;1068 2019 35393 39316)	ENST00000402399.1				Dom	yes		14	14q32.1	8115	T	T-cell leukemia/lymphoma 1A			L	TRA@		T-CLL		0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(154-156)Cgt>Tgt		T-cell leukemia/lymphoma 1A							74.0	79.0	77.0					14																	96178700		2203	4300	6503	SO:0001583	missense	8115				multicellular organismal development	endoplasmic reticulum|microsome		g.chr14:96178700G>A	X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.154C>T	14.37:g.96178700G>A	ENSP00000385036:p.Arg52Cys					TCL1A_ENST00000556450.1_Missense_Mutation_p.R52C|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52C|TCL1A_ENST00000555202.1_Missense_Mutation_p.R52C|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA	p.R52C	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	283	-		all_cancers(154;0.103)	52					Q6IBK7	Missense_Mutation	SNP	ENST00000402399.1	37	c.154C>T	CCDS9941.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.092285|2.092285	0.36952|0.36952	.|.	.|.	ENSG00000100721|ENSG00000100721	ENST00000557043|ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202	.|T;T;T;T	.|0.34072	.|1.38;1.38;1.38;1.38	3.61|3.61	3.61|3.61	0.41365|0.41365	.|.	.|0.139845	.|0.35151	.|N	.|0.003401	T|T	0.36608|0.36608	0.0973|0.0973	M|M	0.73598|0.73598	2.24|2.24	0.24444|0.24444	N|N	0.994511|0.994511	.|D	.|0.53885	.|0.963	.|B	.|0.40256	.|0.324	T|T	0.48801|0.48801	-0.9003|-0.9003	5|10	.|0.87932	.|D	.|0	-28.032|-28.032	11.061|11.061	0.47946|0.47946	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|52	.|P56279	.|TCL1A_HUMAN	V|C	26|52	.|ENSP00000451506:R52C;ENSP00000385036:R52C;ENSP00000450701:R52C;ENSP00000450496:R52C	.|ENSP00000385036:R52C	A|R	-|-	2|1	0|0	TCL1A|TCL1A	95248453|95248453	0.562000|0.562000	0.26586|0.26586	0.209000|0.209000	0.23619|0.23619	0.003000|0.003000	0.03518|0.03518	3.694000|3.694000	0.54742|0.54742	2.319000|2.319000	0.78375|0.78375	0.462000|0.462000	0.41574|0.41574	GCG|CGT		0.567	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			26	40	0	0	0	1	0	26	40				
ACD	65057	broad.mit.edu	37	16	67692112	67692112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67692112G>T	ENST00000393919.4	-	10	1505	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.P411H|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	414	Ser-rich.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGACCTGGGGGTCAGGGT	0.667																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1231-1233)cCc>cAc		adrenocortical dysplasia homolog (mouse)							46.0	54.0	51.0					16																	67692112		2198	4299	6497	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67692112G>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1241C>A	16.37:g.67692112G>T	ENSP00000377496:p.Pro414His					ACD_ENST00000393919.4_Missense_Mutation_p.P414H	p.P411H	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	10	1563	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	414			Ser-rich.		Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.1232C>A	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249281	0.39797	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.57436	0.4;0.41	2.93	0.776	0.18532	.	0.587019	0.16134	N	0.228044	T	0.53850	0.1822	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.37934	-0.9684	10	0.62326	D	0.03	-15.9315	5.2295	0.15414	0.0:0.2316:0.5305:0.2379	.	414;411	Q96AP0;Q96AP0-2	ACD_HUMAN;.	H	411;414	ENSP00000219251:P411H;ENSP00000377496:P414H	ENSP00000219251:P411H	P	-	2	0	ACD	66249613	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	0.245000	0.18142	0.235000	0.21160	0.411000	0.27672	CCC		0.667	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		34	39	1	0	1.69901e-12	1	2.13862e-12	34	39				
ARMC1	55156	broad.mit.edu	37	8	66534582	66534582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66534582C>T	ENST00000276569.3	-	3	435	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	ARMC1_ENST00000523384.1_Intron|ARMC1_ENST00000458464.2_Silent_p.S25S	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	64					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TGCCAAGTATCGAAGAGCCTA	0.353																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(190-192)cGa>cAa		armadillo repeat containing 1							129.0	122.0	124.0					8																	66534582		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66534582C>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.191G>A	8.37:g.66534582C>T	ENSP00000276569:p.Arg64Gln					ARMC1_ENST00000458464.2_Silent_p.S25S|ARMC1_ENST00000523384.1_Intron	p.R64Q	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		3	435	-			64					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.191G>A	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070709	0.76301	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.70749	-0.51;-0.51;-0.51	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	L	0.52573	1.65	0.80722	D	1	P	0.34934	0.476	B	0.28709	0.093	T	0.64058	-0.6496	10	0.30078	T	0.28	.	18.5949	0.91226	0.0:1.0:0.0:0.0	.	64	Q9NVT9	ARMC1_HUMAN	Q	64	ENSP00000276569:R64Q;ENSP00000429191:R64Q;ENSP00000429715:R64Q	ENSP00000276569:R64Q	R	-	2	0	ARMC1	66697136	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.712000	0.68407	2.478000	0.83669	0.467000	0.42956	CGA		0.353	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		4	85	0	0	0	1	0	4	85				
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55914312G>A	ENST00000388975.3	-	3	189	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R25C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284																																						ENST00000388975.3																			2	Substitution - Missense(2)	p.R25C(2)	large_intestine(1)|skin(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(73-75)Cgt>Tgt		septin 14							71.0	67.0	68.0					7																	55914312		1801	4072	5873	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55914312G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.73C>T	7.37:g.55914312G>A	ENSP00000373627:p.Arg25Cys					SEPT14_ENST00000477628.1_5'UTR	p.R25C	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	189	-	Breast(14;0.214)		25					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.73C>T	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	g	11.60	1.686793	0.29962	.	.	ENSG00000154997	ENST00000388975	T	0.55760	0.5	4.4	2.52	0.30459	.	0.252960	0.25532	N	0.030038	T	0.67211	0.2869	M	0.73962	2.25	0.20307	N	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.56541	-0.7962	10	0.87932	D	0	.	7.3269	0.26560	0.0939:0.0:0.738:0.1681	.	25	Q6ZU15	SEP14_HUMAN	C	25	ENSP00000373627:R25C	ENSP00000373627:R25C	R	-	1	0	SEPT14	55881806	0.995000	0.38212	0.025000	0.17156	0.442000	0.32017	3.948000	0.56660	0.528000	0.28580	-0.136000	0.14681	CGT		0.284	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		28	53	0	0	0	1	0	28	53				
GXYLT1	283464	broad.mit.edu	37	12	42491368	42491368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42491368C>T	ENST00000398675.3	-	7	1269	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C315Y	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	346					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCCATATATACAATGATCTGG	0.373																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(1036-1038)tGt>tAt		glucoside xylosyltransferase 1							136.0	130.0	132.0					12																	42491368		1847	4101	5948	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42491368C>T	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1037G>A	12.37:g.42491368C>T	ENSP00000381666:p.Cys346Tyr					GXYLT1_ENST00000280876.6_Missense_Mutation_p.C315Y	p.C346Y	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			7	1269	-			346					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.1037G>A	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432748	0.62844	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.20069	2.1;2.1	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65990	-0.6034	10	0.44086	T	0.13	-22.7643	17.1884	0.86872	0.0:0.8738:0.1262:0.0	.	315;346	Q4G148-2;Q4G148	.;GXLT1_HUMAN	Y	346;315	ENSP00000381666:C346Y;ENSP00000280876:C315Y	ENSP00000280876:C315Y	C	-	2	0	GXYLT1	40777635	1.000000	0.71417	0.959000	0.39883	0.575000	0.36095	7.745000	0.85046	1.485000	0.48380	-0.188000	0.12872	TGT		0.373	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		44	84	0	0	0	1	0	44	84				
CDK4	1019	broad.mit.edu	37	12	58145099	58145099	+	Missense_Mutation	SNP	C	C	T	rs3211612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58145099C>T	ENST00000257904.6	-	3	610	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CDK4_ENST00000312990.6_Missense_Mutation_p.R82Q|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in dbSNP:rs3211612). {ECO:0000269|Ref.5}.		cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCGGTCAGTTCGGGATGTGGC	0.532			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(244-246)cGa>cAa		cyclin-dependent kinase 4							160.0	136.0	144.0					12																	58145099		2203	4300	6503	SO:0001583	missense	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58145099C>T	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.245G>A	12.37:g.58145099C>T	ENSP00000257904:p.Arg82Gln					CDK4_ENST00000312990.6_Missense_Mutation_p.R82Q|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR	p.R82Q	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	610	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		82		R -> Q (in dbSNP:rs3211612).	Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.245G>A	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784059	0.49891	.	.	ENSG00000135446	ENST00000257904;ENST00000312990;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T;T	0.76448	0.97;0.99;-0.93;-0.97;-1.02;2.1;2.1;2.1	5.05	3.22	0.36961	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.57829	0.2080	N	0.11427	0.14	0.43608	D	0.995972	D	0.61697	0.99	B	0.43950	0.437	T	0.57562	-0.7790	10	0.46703	T	0.11	.	6.1416	0.20263	0.1497:0.69:0.0:0.1602	rs3211612;rs3211612	82	P11802	CDK4_HUMAN	Q	82;82;8;8;8;82;82;82	ENSP00000257904:R82Q;ENSP00000316889:R82Q;ENSP00000447779:R8Q;ENSP00000447274:R8Q;ENSP00000449391:R8Q;ENSP00000449179:R82Q;ENSP00000448963:R82Q;ENSP00000446763:R82Q	ENSP00000257904:R82Q	R	-	2	0	CDK4	56431366	1.000000	0.71417	0.981000	0.43875	0.565000	0.35776	4.247000	0.58750	0.838000	0.34948	-0.140000	0.14226	CGA		0.532	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		37	45	0	0	0	1	0	37	45				
IKZF5	64376	broad.mit.edu	37	10	124755566	124755566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124755566C>T	ENST00000368886.5	-	4	580	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	IKZF5_ENST00000479103.1_5'Flank|PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGCATAGTTGCAGTACCGACA	0.453																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(259-261)tGc>tAc		IKAROS family zinc finger 5 (Pegasus)							164.0	162.0	163.0					10																	124755566		1905	4121	6026	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124755566C>T	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.260G>A	10.37:g.124755566C>T	ENSP00000357881:p.Cys87Tyr					PSTK_ENST00000497219.1_Intron	p.C87Y	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	4	580	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	87					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.260G>A	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798161	0.90538	.	.	ENSG00000095574	ENST00000368886	T	0.03358	3.96	5.87	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041945	0.85682	N	0.000000	T	0.10423	0.0255	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.11891	-1.0569	10	0.87932	D	0	-20.8235	15.0754	0.72074	0.0:0.9322:0.0:0.0678	.	87	Q9H5V7	IKZF5_HUMAN	Y	87	ENSP00000357881:C87Y	ENSP00000357881:C87Y	C	-	2	0	IKZF5	124745556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	1.620000	0.50308	0.655000	0.94253	TGC		0.453	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		5	95	0	0	0	1	0	5	95				
OSBP	5007	broad.mit.edu	37	11	59344074	59344074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59344074C>T	ENST00000263847.1	-	14	2879	c.2400G>A	c.(2398-2400)tgG>tgA	p.W800*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	800					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCATGAGCTCCAGTCCTGTT	0.453																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2398-2400)tgG>tgA		oxysterol binding protein							163.0	161.0	162.0					11																	59344074		2201	4295	6496	SO:0001587	stop_gained	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59344074C>T	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.2400G>A	11.37:g.59344074C>T	ENSP00000263847:p.Trp800*						p.W800*	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	14	2879	-		all_epithelial(135;0.000236)	800					Q6P524	Nonsense_Mutation	SNP	ENST00000263847.1	37	c.2400G>A	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	41	8.896545	0.98994	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2115	19.3429	0.94350	0.0:1.0:0.0:0.0	.	.	.	.	X	800;400	.	ENSP00000263847:W800X	W	-	3	0	OSBP	59100650	1.000000	0.71417	0.964000	0.40570	0.693000	0.40251	7.734000	0.84928	2.652000	0.90054	0.655000	0.94253	TGG		0.453	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			59	119	0	0	0	1	0	59	119				
GRIK1	2897	broad.mit.edu	37	21	31045367	31045367	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31045367T>C	ENST00000399907.1	-	4	1073	c.662A>G	c.(661-663)aAa>aGa	p.K221R	GRIK1_ENST00000389125.3_Missense_Mutation_p.K221R|GRIK1_ENST00000399914.1_Missense_Mutation_p.K221R|GRIK1_ENST00000399913.1_Missense_Mutation_p.K221R|GRIK1_ENST00000399909.1_Missense_Mutation_p.K221R|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Missense_Mutation_p.K221R|GRIK1_ENST00000327783.4_Missense_Mutation_p.K221R|GRIK1_ENST00000389124.2_Missense_Mutation_p.K221R|GRIK1_ENST00000309434.7_Missense_Mutation_p.K221R	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	221					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CTCCTTGCCTTTCTTCATCTC	0.448																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(661-663)aAa>aGa		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						151.0	159.0	156.0					21																	31045367		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045367T>C		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.662A>G	21.37:g.31045367T>C	ENSP00000382791:p.Lys221Arg					GRIK1_ENST00000399913.1_Missense_Mutation_p.K221R|GRIK1_ENST00000389125.3_Missense_Mutation_p.K221R|GRIK1_ENST00000399909.1_Missense_Mutation_p.K221R|GRIK1_ENST00000399907.1_Missense_Mutation_p.K221R|GRIK1_ENST00000535441.1_Missense_Mutation_p.K221R|GRIK1_ENST00000327783.4_Missense_Mutation_p.K221R|GRIK1_ENST00000389124.2_Missense_Mutation_p.K221R|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.K221R	p.K221R			P39086	GRIK1_HUMAN			4	1183	-			221					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.662A>G	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	T	9.898	1.206068	0.22205	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.43	4.26	0.50523	Extracellular ligand-binding receptor (1);	0.095655	0.64402	D	0.000001	T	0.61198	0.2328	N	0.04880	-0.145	0.58432	D	0.999991	B;B;B;B;B;B	0.09022	0.0;0.001;0.002;0.001;0.0;0.0	B;B;B;B;B;B	0.11329	0.006;0.006;0.005;0.006;0.004;0.003	T	0.58370	-0.7648	10	0.02654	T	1	.	11.3289	0.49465	0.0:0.0731:0.0:0.9269	.	221;221;221;221;221;221	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	R	221;221;221;221;221;165;221;221;221;221	ENSP00000327687:K221R;ENSP00000373777:K221R;ENSP00000382797:K221R;ENSP00000382798:K221R;ENSP00000446326:K221R;ENSP00000373776:K221R;ENSP00000382791:K221R;ENSP00000382793:K221R;ENSP00000311646:K221R	ENSP00000311646:K221R	K	-	2	0	GRIK1	29967238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.375000	0.52410	2.271000	0.75665	0.528000	0.53228	AAA		0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			60	119	0	0	0	1	0	60	119				
WDR24	84219	broad.mit.edu	37	16	737585	737585	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:737585G>A	ENST00000248142.6	-	6	1025	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_Silent_p.C212C			Q96S15	WDR24_HUMAN	WD repeat domain 24	342										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCAGTCGCAGCAGAAGACGG	0.617																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(634-636)tgC>tgT		WD repeat domain 24							77.0	64.0	69.0					16																	737585		2198	4299	6497	SO:0001819	synonymous_variant	84219							g.chr16:737585G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1026C>T	16.37:g.737585G>A						WDR24_ENST00000248142.6_Silent_p.C342C	p.C212C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			2	1395	-		Hepatocellular(780;0.0218)	298					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37	c.636C>T																																																																																					0.617	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		14	13	0	0	0	1	0	14	13				
MVD	4597	broad.mit.edu	37	16	88723931	88723931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88723931G>T	ENST00000301012.3	-	4	345	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	106					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGCAGCTGAGGCTGGAGGGC	0.677																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(316-318)Ctc>Atc		mevalonate (diphospho) decarboxylase							43.0	37.0	39.0					16																	88723931		2198	4300	6498	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88723931G>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.316C>A	16.37:g.88723931G>T	ENSP00000301012:p.Leu106Ile					MVD_ENST00000568709.1_5'UTR	p.L106I	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	4	345	-			106					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.316C>A	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880711	0.33255	.	.	ENSG00000167508	ENST00000301012	T	0.42900	0.96	4.86	4.86	0.63082	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.068185	0.53938	D	0.000051	T	0.30572	0.0769	L	0.29908	0.895	0.42596	D	0.993264	B	0.11235	0.004	B	0.08055	0.003	T	0.08330	-1.0727	10	0.35671	T	0.21	-19.3736	11.5056	0.50463	0.0841:0.0:0.9159:0.0	.	106	P53602	MVD1_HUMAN	I	106	ENSP00000301012:L106I	ENSP00000301012:L106I	L	-	1	0	MVD	87251432	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	2.834000	0.48167	2.400000	0.81607	0.561000	0.74099	CTC		0.677	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		13	19	1	0	4.36969e-10	1	5.35656e-10	13	19				
ATP1B4	23439	broad.mit.edu	37	X	119509350	119509350	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119509350A>G	ENST00000218008.3	+	5	743	c.686A>G	c.(685-687)aAc>aGc	p.N229S	ATP1B4_ENST00000361319.3_Missense_Mutation_p.N225S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.N186S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	229					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCCTAAAGAACTGCTCTGGT	0.478																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(685-687)aAc>aGc		ATPase, Na+/K+ transporting, beta 4 polypeptide							165.0	144.0	151.0					X																	119509350		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509350A>G	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.686A>G	X.37:g.119509350A>G	ENSP00000218008:p.Asn229Ser					ATP1B4_ENST00000539306.1_Missense_Mutation_p.N186S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.N225S	p.N229S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			5	743	+			229					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.686A>G	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604220	0.66445	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.30714	1.52;1.52;1.52	5.36	5.36	0.76844	.	0.134693	0.64402	D	0.000002	T	0.41926	0.1180	M	0.66939	2.045	0.44937	D	0.997953	P;B;P;P	0.49447	0.924;0.274;0.924;0.907	P;B;P;P	0.51657	0.676;0.27;0.676;0.547	T	0.25710	-1.0124	10	0.17369	T	0.5	-16.1596	13.5618	0.61793	1.0:0.0:0.0:0.0	.	186;194;229;225	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	229;225;186	ENSP00000218008:N229S;ENSP00000355346:N225S;ENSP00000443334:N186S	ENSP00000218008:N229S	N	+	2	0	ATP1B4	119393378	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.939000	0.56591	1.797000	0.52628	0.430000	0.28490	AAC		0.478	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		9	145	0	0	0	1	0	9	145				
LGR4	55366	broad.mit.edu	37	11	27390580	27390580	+	Missense_Mutation	SNP	A	A	C	rs376059218		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390580A>C	ENST00000379214.4	-	18	2133	c.1690T>G	c.(1690-1692)Ttt>Gtt	p.F564V	LGR4_ENST00000389858.4_Missense_Mutation_p.F540V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	564					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAAGATGCAAATGTTGTTAAA	0.368																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1690-1692)Ttt>Gtt		leucine-rich repeat containing G protein-coupled receptor 4							73.0	72.0	72.0					11																	27390580		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390580A>C	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1690T>G	11.37:g.27390580A>C	ENSP00000368516:p.Phe564Val					LGR4_ENST00000389858.4_Missense_Mutation_p.F540V	p.F564V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2133	-			564					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.1690T>G	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.430105	0.43122	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.88975	-2.45;-2.45	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93025	0.6443	10	0.41790	T	0.15	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	540;564	G5E9B3;Q9BXB1	.;LGR4_HUMAN	V	564;540	ENSP00000368516:F564V;ENSP00000374508:F540V	ENSP00000368516:F564V	F	-	1	0	LGR4	27347156	1.000000	0.71417	0.721000	0.30653	0.158000	0.22134	7.518000	0.81795	2.284000	0.76573	0.528000	0.53228	TTT		0.368	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		33	46	0	0	0	1	0	33	46				
DNAH10	196385	broad.mit.edu	37	12	124283889	124283889	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124283889G>T	ENST00000409039.3	+	13	1931	c.1906G>T	c.(1906-1908)Gct>Tct	p.A636S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	636	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTGCTGCCAGCTCTCATGAA	0.502																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1906-1908)Gct>Tct		dynein, axonemal, heavy chain 10							162.0	124.0	137.0					12																	124283889		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124283889G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1906G>T	12.37:g.124283889G>T	ENSP00000386770:p.Ala636Ser						p.A636S	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	13	1931	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		636			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1906G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.021605	0.02061	.	.	ENSG00000197653	ENST00000409039	T	0.56275	0.47	5.64	-11.3	0.00108	Dynein heavy chain, domain-1 (1);	5.904220	0.00757	N	0.001105	T	0.29093	0.0723	L	0.32530	0.975	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.12837	0.008;0.008;0.007	T	0.21245	-1.0251	10	0.07325	T	0.83	.	3.7824	0.08686	0.1587:0.1937:0.4388:0.2087	.	636;511;636	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	S	636	ENSP00000386770:A636S	ENSP00000386770:A636S	A	+	1	0	DNAH10	122849842	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.177000	0.00570	-1.802000	0.01244	-1.246000	0.01523	GCT		0.502	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	42	1	0	0.00198382	1	0.00210581	4	42				
FBXO22	26263	broad.mit.edu	37	15	76222395	76222395	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76222395G>A	ENST00000308275.3	+	6	899				FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000453211.2_Missense_Mutation_p.V267I	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22						cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGAAAAGTATGTCTTGTGTGC	0.383																																						ENST00000453211.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(799-801)Gtc>Atc		F-box protein 22							144.0	134.0	138.0					15																	76222395		2197	4294	6491	SO:0001627	intron_variant	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76222395G>A	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.794+5G>A	15.37:g.76222395G>A						FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000308275.3_Intron	p.V267I	NM_012170.3	NP_036302.1	Q8NEZ5	FBX22_HUMAN			6	885	+			0					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.799G>A	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126842	0.37533	.	.	ENSG00000167196	ENST00000453211	.	.	.	4.56	3.61	0.41365	.	.	.	.	.	T	0.45716	0.1356	.	.	.	0.50813	D	0.999894	B	0.21905	0.062	B	0.24155	0.051	T	0.29181	-1.0020	6	.	.	.	.	13.6069	0.62052	0.0:0.1566:0.8434:0.0	.	267	Q8NEZ5-3	.	I	267	.	.	V	+	1	0	FBXO22	74009450	0.995000	0.38212	0.016000	0.15963	0.854000	0.48673	4.472000	0.60189	1.096000	0.41439	0.563000	0.77884	GTC		0.383	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		5	78	0	0	0	1	0	5	78				
STOX2	56977	broad.mit.edu	37	4	184930405	184930405	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930405C>T	ENST00000308497.4	+	3	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_ENST00000438269.1_Silent_p.I138I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	138					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(412-414)atC>atT		storkhead box 2							71.0	69.0	70.0					4																	184930405		1981	4180	6161	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184930405C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.414C>T	4.37:g.184930405C>T						STOX2_ENST00000438269.1_Silent_p.I138I	p.I138I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1849	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	138					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.414C>T	CCDS47167.1																																																																																				0.493	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		10	10	0	0	0	1	0	10	10				
TMEM2	23670	broad.mit.edu	37	9	74345102	74345102	+	Missense_Mutation	SNP	C	C	A	rs200595697		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345102C>A	ENST00000377044.4	-	9	2380	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R551M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	614					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAAGTATTCCTCTGTTCAAT	0.423																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1840-1842)aGg>aTg		transmembrane protein 2							120.0	113.0	116.0					9																	74345102		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74345102C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1841G>T	9.37:g.74345102C>A	ENSP00000366243:p.Arg614Met					TMEM2_ENST00000377066.5_Missense_Mutation_p.R551M	p.R614M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	9	2380	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	614					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1841G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938715	0.92526	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.59364	0.27;0.27	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.82971	-0.0192	10	0.41790	T	0.15	.	19.6697	0.95907	0.0:1.0:0.0:0.0	.	614;551	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	M	614;551	ENSP00000366243:R614M;ENSP00000366266:R551M	ENSP00000366243:R614M	R	-	2	0	TMEM2	73534922	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.372000	0.79612	2.649000	0.89929	0.585000	0.79938	AGG		0.423	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		7	53	1	0	8.12818e-05	1	8.99451e-05	7	53				
THOC2	57187	broad.mit.edu	37	X	122837343	122837343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122837343C>T	ENST00000245838.8	-	4	266	c.235G>A	c.(235-237)Gat>Aat	p.D79N	THOC2_ENST00000355725.4_Missense_Mutation_p.D79N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	79					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAGGGCATATCCTCACGAAAT	0.313																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(235-237)Gat>Aat		THO complex 2							68.0	59.0	62.0					X																	122837343		1820	4063	5883	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122837343C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.235G>A	X.37:g.122837343C>T	ENSP00000245838:p.Asp79Asn					THOC2_ENST00000355725.4_Missense_Mutation_p.D79N	p.D79N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			4	266	-			79					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.235G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008635	0.93346	.	.	ENSG00000125676	ENST00000245838;ENST00000355725	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	T	0.55178	0.1904	L	0.55213	1.73	0.80722	D	1	P	0.45531	0.86	B	0.40565	0.333	T	0.55398	-0.8147	8	0.29301	T	0.29	-10.2753	18.1461	0.89655	0.0:1.0:0.0:0.0	.	79	Q8NI27	THOC2_HUMAN	N	79	.	ENSP00000245838:D79N	D	-	1	0	THOC2	122665024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.977000	0.76141	2.221000	0.72209	0.600000	0.82982	GAT		0.313	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			19	42	0	0	0	1	0	19	42				
RAB3IP	117177	broad.mit.edu	37	12	70149248	70149248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70149248G>A	ENST00000247833.7	+	2	436	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000550536.1_Silent_p.P36P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(106-108)ccG>ccA		RAB3A interacting protein							146.0	128.0	134.0					12																	70149248		2203	4300	6503	SO:0001819	synonymous_variant	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149248G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.60G>A	12.37:g.70149248G>A						RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P	p.P36P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	565	+	Esophageal squamous(21;0.187)		36						Silent	SNP	ENST00000247833.7	37	c.108G>A	CCDS8995.1																																																																																				0.443	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		27	53	0	0	0	1	0	27	53				
PCDHGA10	56106	broad.mit.edu	37	5	140793483	140793483	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140793483C>A	ENST00000398610.2	+	1	741	c.741C>A	c.(739-741)acC>acA	p.T247T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	247	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCTTCACCTTGCCAGAAT	0.577																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(739-741)acC>acA									44.0	47.0	46.0					5																	140793483		2037	4177	6214	SO:0001819	synonymous_variant	0							g.chr5:140793483C>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.741C>A	5.37:g.140793483C>A						PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T247T	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	741	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.741C>A	CCDS47292.1																																																																																				0.577	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		5	26	1	0	0.184627	1	0.186383	5	26				
NR2C2	7182	broad.mit.edu	37	3	15073889	15073889	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15073889A>G	ENST00000425241.1	+	10	1476	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	NR2C2_ENST00000393102.3_Missense_Mutation_p.T372A|NR2C2_ENST00000323373.6_Missense_Mutation_p.T391A|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000406272.2_Missense_Mutation_p.T372A			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	372					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCCAGCTAACAATGCCCAG	0.522																																						ENST00000425241.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1114-1116)Aca>Gca		nuclear receptor subfamily 2, group C, member 2							314.0	270.0	285.0					3																	15073889		2203	4300	6503	SO:0001583	missense	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15073889A>G	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1114A>G	3.37:g.15073889A>G	ENSP00000388387:p.Thr372Ala					NR2C2_ENST00000323373.6_Missense_Mutation_p.T391A|NR2C2_ENST00000393102.3_Missense_Mutation_p.T372A|NR2C2_ENST00000406272.2_Missense_Mutation_p.T372A|NR2C2_ENST00000478572.1_3'UTR	p.T372A			P49116	NR2C2_HUMAN			10	1476	+			372					A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.1114A>G		.	.	.	.	.	.	.	.	.	.	A	16.87	3.241419	0.58995	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.58	5.58	0.84498	Nuclear hormone receptor, ligand-binding (1);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.75447	2.3	0.80722	D	1	B;P	0.40476	0.13;0.718	B;P	0.61477	0.144;0.889	T	0.61903	-0.6967	10	0.16896	T	0.51	.	15.7497	0.77972	1.0:0.0:0.0:0.0	.	372;391	P49116;F2YGU2	NR2C2_HUMAN;.	A	372;391;372;372	ENSP00000388387:T372A;ENSP00000320447:T391A;ENSP00000376814:T372A;ENSP00000384463:T372A	ENSP00000320447:T391A	T	+	1	0	NR2C2	15048893	1.000000	0.71417	0.172000	0.22920	0.626000	0.37791	7.378000	0.79679	2.131000	0.65755	0.477000	0.44152	ACA		0.522	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		76	111	0	0	0	1	0	76	111				
CHPF2	54480	broad.mit.edu	37	7	150935111	150935111	+	Missense_Mutation	SNP	C	C	T	rs139831103		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150935111C>T	ENST00000035307.2	+	4	3176	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.R547W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	555					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTAGAGCGACGGTACCCTGG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16711	0.0		0.001	False		,,,				2504	0.0					ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1663-1665)Cgg>Tgg		chondroitin polymerizing factor 2		C	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	39.0	39.0	39.0		1663	1.6	1.0	7	dbSNP_134	39	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHPF2	NM_019015.1	101	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	555/773	150935111	3,13001	2202	4300	6502	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935111C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1663C>T	7.37:g.150935111C>T	ENSP00000035307:p.Arg555Trp					CHPF2_ENST00000495645.1_Missense_Mutation_p.R547W	p.R555W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	3176	+			555					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1663C>T	CCDS34779.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.10	3.303447	0.60195	2.27E-4	2.33E-4	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.22945	1.93;1.93	4.8	1.58	0.23477	.	0.053292	0.64402	D	0.000001	T	0.47451	0.1446	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.642	T	0.52215	-0.8605	10	0.87932	D	0	-17.9734	13.0383	0.58885	0.5093:0.4907:0.0:0.0	.	555;547	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	W	547;555;555	ENSP00000418914:R547W;ENSP00000035307:R555W	ENSP00000035307:R555W	R	+	1	2	CHPF2	150566044	0.998000	0.40836	0.971000	0.41717	0.978000	0.69477	3.606000	0.54095	0.562000	0.29204	0.650000	0.86243	CGG		0.632	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		17	40	0	0	0	1	0	17	40				
TADA2B	93624	broad.mit.edu	37	4	7056173	7056173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7056173C>T	ENST00000310074.7	+	2	844	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TADA2B_ENST00000512388.1_Missense_Mutation_p.R144W|TADA2B_ENST00000515646.1_Missense_Mutation_p.R127W	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	219					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGACAGCGGCGGAAGAACAT	0.572																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(655-657)Cgg>Tgg		transcriptional adaptor 2B							82.0	89.0	86.0					4																	7056173		2027	4197	6224	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056173C>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.655C>T	4.37:g.7056173C>T	ENSP00000308022:p.Arg219Trp					TADA2B_ENST00000515646.1_Missense_Mutation_p.R127W|TADA2B_ENST00000512388.1_Missense_Mutation_p.R144W	p.R219W	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN			2	844	+			219					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.655C>T	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232970	0.79688	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.29	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.68868	-0.5295	10	0.66056	D	0.02	-38.778	8.5159	0.33246	0.1527:0.7705:0.0:0.0768	.	144;219	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	W	219;144;127;127	ENSP00000308022:R219W;ENSP00000423947:R144W;ENSP00000423181:R127W;ENSP00000425731:R127W	ENSP00000308022:R219W	R	+	1	2	TADA2B	7107074	1.000000	0.71417	0.958000	0.39756	0.785000	0.44390	3.606000	0.54095	1.235000	0.43724	0.561000	0.74099	CGG		0.572	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		26	53	0	0	0	1	0	26	53				
FZD7	8324	broad.mit.edu	37	2	202900492	202900492	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900492C>T	ENST00000286201.1	+	1	1183	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	374					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGAGGCCATCGAGGCCAACT	0.632											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1120-1122)atC>atT		frizzled family receptor 7							66.0	67.0	66.0					2																	202900492		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900492C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1122C>T	2.37:g.202900492C>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.I374I	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1183	+			374					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.1122C>T	CCDS2351.1																																																																																				0.632	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		7	47	0	0	0	1	0	7	47				
AKAP1	8165	broad.mit.edu	37	17	55193476	55193476	+	Silent	SNP	G	G	A	rs552308780		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55193476G>A	ENST00000337714.3	+	7	2519	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	AKAP1_ENST00000539273.1_Silent_p.T762T|AKAP1_ENST00000572557.1_Silent_p.T762T|AKAP1_ENST00000571629.1_Silent_p.T762T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	762	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGCAGTAACGGTCATCTGTG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.001					ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2284-2286)acG>acA		A kinase (PRKA) anchor protein 1							60.0	48.0	52.0					17																	55193476		2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55193476G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2286G>A	17.37:g.55193476G>A						AKAP1_ENST00000539273.1_Silent_p.T762T|AKAP1_ENST00000572557.1_Silent_p.T762T|AKAP1_ENST00000571629.1_Silent_p.T762T	p.T762T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			7	2519	+	Breast(9;5.46e-08)		762			Tudor.		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.2286G>A	CCDS11594.1																																																																																				0.647	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			13	27	0	0	0	1	0	13	27				
RHAG	6005	broad.mit.edu	37	6	49585861	49585861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49585861G>A	ENST00000371175.4	-	3	438	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	RHAG_ENST00000229810.7_Missense_Mutation_p.P138S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	138					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATTTGGGTGGGGCTCGTTTTT	0.368																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(412-414)Ccc>Tcc		Rh-associated glycoprotein							92.0	91.0	91.0					6																	49585861		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49585861G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.412C>T	6.37:g.49585861G>A	ENSP00000360217:p.Pro138Ser					RHAG_ENST00000229810.7_Missense_Mutation_p.P138S	p.P138S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			3	438	-	Lung NSC(77;0.0255)		138					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.412C>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943372	0.92593	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.23552	1.9;1.9	5.67	5.67	0.87782	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.90650	3.135	0.80722	D	1	D;D;D	0.71674	0.998;0.984;0.984	P;P;P	0.61874	0.895;0.892;0.892	T	0.60084	-0.7332	10	0.66056	D	0.02	-15.5769	19.1191	0.93355	0.0:0.0:1.0:0.0	.	138;138;138	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	S	138	ENSP00000360217:P138S;ENSP00000229810:P138S	ENSP00000229810:P138S	P	-	1	0	RHAG	49693820	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	CCC		0.368	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			11	29	0	0	0	1	0	11	29				
EPB41L3	23136	broad.mit.edu	37	18	5419723	5419723	+	Missense_Mutation	SNP	C	C	T	rs117538203	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5419723C>T	ENST00000341928.2	-	12	1833	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R516Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R498Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R516Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R516Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	498	Hydrophilic.			R -> Q (in Ref. 1; AAC79806). {ECO:0000305}.	apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCCTCGTGCCGGATGGCCGA	0.547													C|||	7	0.00139776	0.0	0.0014	5008	,	,		18007	0.0		0.005	False		,,,				2504	0.001					ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1492-1494)cGg>cAg		erythrocyte membrane protein band 4.1-like 3		C	GLN/ARG	7,4399	14.3+/-33.2	0,7,2196	174.0	124.0	141.0		1493	5.6	1.0	18	dbSNP_132	141	48,8552	30.1+/-81.4	2,44,4254	yes	missense	EPB41L3	NM_012307.2	43	2,51,6450	TT,TC,CC		0.5581,0.1589,0.4229	possibly-damaging	498/1088	5419723	55,12951	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419723C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1493G>A	18.37:g.5419723C>T	ENSP00000343158:p.Arg498Gln					EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R516Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R498Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R516Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R516Q	p.R498Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			12	1833	-			498	R -> Q (in Ref. 1; AAC79806).		Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1493G>A	CCDS11838.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	26.7	4.758711	0.89843	0.001589	0.005581	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;D;D;T;D	0.96104	-1.45;-3.91;-1.59;-1.45;-1.62	5.61	5.61	0.85477	.	1.667980	0.02683	N	0.109895	D	0.97176	0.9077	M	0.70275	2.135	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.999;0.999;0.905	D;D;D;D;B	0.77557	0.988;0.99;0.978;0.99;0.14	D	0.89361	0.3668	10	0.23891	T	0.37	.	18.9964	0.92815	0.0:1.0:0.0:0.0	.	516;77;407;516;498	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	498;407;516;407;498;516	ENSP00000343158:R498Q;ENSP00000442091:R407Q;ENSP00000441174:R516Q;ENSP00000341138:R498Q;ENSP00000382981:R516Q	ENSP00000343158:R498Q	R	-	2	0	EPB41L3	5409723	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.481000	0.66826	2.808000	0.96608	0.655000	0.94253	CGG		0.547	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		29	40	0	0	0	1	0	29	40				
ARHGAP5	394	broad.mit.edu	37	14	32559922	32559922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32559922G>A	ENST00000345122.3	+	2	362	c.47G>A	c.(46-48)aGt>aAt	p.S16N	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S16N|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S16N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S16N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	16					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATACCATCAGTATAGTTGGA	0.393																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(46-48)aGt>aAt		Rho GTPase activating protein 5							95.0	92.0	93.0					14																	32559922		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32559922G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.47G>A	14.37:g.32559922G>A	ENSP00000371897:p.Ser16Asn					ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S16N|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S16N|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S16N	p.S16N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	362	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		16					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.47G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999085	0.93227	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T;T	0.56444	0.46;2.72;2.72;2.72;2.72;0.71	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	M	0.68593	2.085	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.65010	0.931;0.854	T	0.73547	-0.3948	10	0.72032	D	0.01	.	19.2061	0.93730	0.0:0.0:1.0:0.0	.	16;16	Q13017-2;Q13017	.;RHG05_HUMAN	N	16	ENSP00000452372:S16N;ENSP00000452222:S16N;ENSP00000441692:S16N;ENSP00000371897:S16N;ENSP00000393307:S16N;ENSP00000451579:S16N	ENSP00000371897:S16N	S	+	2	0	ARHGAP5	31629673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.595000	0.87683	0.650000	0.86243	AGT		0.393	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		45	67	0	0	0	1	0	45	67				
ZNF611	81856	broad.mit.edu	37	19	53209369	53209369	+	Silent	SNP	T	T	C	rs375641832		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53209369T>C	ENST00000319783.1	-	7	1255	c.939A>G	c.(937-939)aaA>aaG	p.K313K	ZNF611_ENST00000602162.1_Silent_p.K244K|ZNF611_ENST00000595798.1_Silent_p.K244K|ZNF611_ENST00000540744.1_Silent_p.K313K|ZNF611_ENST00000453741.2_Silent_p.K244K|ZNF611_ENST00000543227.1_Silent_p.K313K|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTGTAACGTTTTACTCCAG	0.403																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(937-939)aaA>aaG		zinc finger protein 611							146.0	136.0	139.0					19																	53209369		2203	4300	6503	SO:0001819	synonymous_variant	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209369T>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.939A>G	19.37:g.53209369T>C						ZNF611_ENST00000319783.1_Silent_p.K313K|ZNF611_ENST00000595798.1_Silent_p.K244K|ZNF611_ENST00000540744.1_Silent_p.K313K|ZNF611_ENST00000453741.2_Silent_p.K244K|ZNF611_ENST00000602162.1_Silent_p.K244K	p.K313K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1213	-			313					B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	c.939A>G	CCDS12855.1																																																																																				0.403	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		7	115	0	0	0	1	0	7	115				
RPS6KA1	6195	broad.mit.edu	37	1	26900689	26900689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26900689G>A	ENST00000374168.2	+	22	2359	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	RPS6KA1_ENST00000374166.4_Silent_p.L724L|RPS6KA1_ENST00000374162.2_Silent_p.L643L|RPS6KA1_ENST00000526792.1_Silent_p.L643L|RPS6KA1_ENST00000530003.1_Silent_p.L719L|RPS6KA1_ENST00000531382.1_Silent_p.L744L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	735					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCACCACCCTGTGAGGCACCA	0.642																																						ENST00000374168.2																			0				lung(1)	1						c.(2203-2205)ctG>ctA		ribosomal protein S6 kinase, 90kDa, polypeptide 1							91.0	79.0	83.0					1																	26900689		2203	4300	6503	SO:0001819	synonymous_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26900689G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.2205G>A	1.37:g.26900689G>A						RPS6KA1_ENST00000374162.2_Silent_p.L643L|RPS6KA1_ENST00000374166.4_Silent_p.L724L|RPS6KA1_ENST00000526792.1_Silent_p.L643L|RPS6KA1_ENST00000531382.1_Silent_p.L744L|RPS6KA1_ENST00000530003.1_Silent_p.L719L	p.L735L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	22	2359	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	735					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	c.2205G>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982581	0.74474	.	.	ENSG00000117676	ENST00000438977	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2495	0.82475	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPS6KA1	26773276	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	5.732000	0.68563	2.507000	0.84556	0.467000	0.42956	.		0.642	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		6	42	0	0	0	1	0	6	42				
PSMB2	5690	broad.mit.edu	37	1	36102014	36102014	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36102014C>A	ENST00000373237.3	-	2	522	c.111G>T	c.(109-111)aaG>aaT	p.K37N		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)|Carfilzomib(DB08889)	TTTCACTCATCTTAAACATCT	0.358																																						ENST00000373237.3																			0				endometrium(1)|large_intestine(2)	3						c.(109-111)aaG>aaT		proteasome (prosome, macropain) subunit, beta type, 2	Bortezomib(DB00188)						124.0	122.0	123.0					1																	36102014		2203	4300	6503	SO:0001583	missense	5690				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:36102014C>A	D26599	CCDS394.1, CCDS72755.1	1p34.2	2008-02-05			ENSG00000126067	ENSG00000126067		"""Proteasome (prosome, macropain) subunits"""	9539	protein-coding gene	gene with protein product		602175				7918633	Standard	NM_002794		Approved	HC7-I	uc001bzf.2	P49721	OTTHUMG00000004169	ENST00000373237.3:c.111G>T	1.37:g.36102014C>A	ENSP00000362334:p.Lys37Asn						p.K37N	NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN			2	522	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	37					D3DPS0|P31145|Q9BWZ9	Missense_Mutation	SNP	ENST00000373237.3	37	c.111G>T	CCDS394.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475592	0.63737	.	.	ENSG00000126067	ENST00000373237	T	0.25250	1.81	5.69	5.69	0.88448	Proteasome, beta-type subunit, conserved site (1);	0.044135	0.85682	D	0.000000	T	0.45276	0.1334	M	0.61703	1.905	0.80722	D	1	D;P;P	0.56287	0.975;0.511;0.86	P;B;B	0.56823	0.807;0.325;0.427	T	0.09574	-1.0668	10	0.33940	T	0.23	.	19.8246	0.96612	0.0:1.0:0.0:0.0	.	12;37;69	B7Z478;P49721;Q59FJ0	.;PSB2_HUMAN;.	N	37	ENSP00000362334:K37N	ENSP00000362334:K37N	K	-	3	2	PSMB2	35874601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.911000	0.39937	2.676000	0.91093	0.563000	0.77884	AAG		0.358	PSMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012016.1	NM_002794		37	65	1	0	3.78316e-11	1	4.70432e-11	37	65				
BGLT3	103344929	broad.mit.edu	37	11	5264463	5264463	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5264463G>A	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							CTTGCCATGTGCCTTGACTTT	0.488																																						ENST00000454892.1																			0																																																			0							g.chr11:5264463G>A																													11.37:g.5264463G>A								NR_001589.1						0	33	-									RNA	SNP	ENST00000564523.1	37																																																																																						0.488	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			10	14	0	0	0	1	0	10	14				
APOL1	8542	broad.mit.edu	37	22	36661287	36661287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36661287G>A	ENST00000397278.3	+	6	634	c.405G>A	c.(403-405)caG>caA	p.Q135Q	APOL1_ENST00000319136.4_Silent_p.Q151Q|APOL1_ENST00000422706.1_Silent_p.Q135Q|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Silent_p.Q117Q|APOL1_ENST00000347595.7_Silent_p.Q14Q|APOL1_ENST00000397279.4_Silent_p.Q135Q	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	135					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAGGCCAGCAGTACAGAAACT	0.473																																						ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(451-453)caG>caA		apolipoprotein L, 1							96.0	89.0	91.0					22																	36661287		2203	4300	6503	SO:0001819	synonymous_variant	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661287G>A	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.405G>A	22.37:g.36661287G>A						APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Silent_p.Q117Q|APOL1_ENST00000347595.7_Silent_p.Q14Q|APOL1_ENST00000397279.4_Silent_p.Q135Q|APOL1_ENST00000397278.3_Silent_p.Q135Q|APOL1_ENST00000422706.1_Silent_p.Q135Q	p.Q151Q	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			7	720	+			135					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	ENST00000397278.3	37	c.453G>A	CCDS13926.1																																																																																				0.473	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		25	42	0	0	0	1	0	25	42				
ABHD8	79575	broad.mit.edu	37	19	17411728	17411728	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17411728T>C	ENST00000247706.3	-	2	937	c.698A>G	c.(697-699)gAc>gGc	p.D233G	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	233							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGCTCGCATGTCCTCAGCCAG	0.622																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(697-699)gAc>gGc		abhydrolase domain containing 8							79.0	84.0	83.0					19																	17411728		2203	4299	6502	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411728T>C	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.698A>G	19.37:g.17411728T>C	ENSP00000247706:p.Asp233Gly					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.D233G	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	937	-			233					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.698A>G	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250523	0.80024	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.73789	-0.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.85641	0.1276	10	0.49607	T	0.09	-58.7693	13.7295	0.62779	0.0:0.0:0.0:1.0	.	233	Q96I13	ABHD8_HUMAN	G	233;179	ENSP00000247706:D233G	ENSP00000247706:D233G	D	-	2	0	ABHD8	17272728	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.486000	0.81215	2.135000	0.66039	0.459000	0.35465	GAC		0.622	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		31	59	0	0	0	1	0	31	59				
CFB	629	broad.mit.edu	37	6	31918103	31918103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31918103T>C	ENST00000425368.2	+	12	2060	c.1547T>C	c.(1546-1548)gTg>gCg	p.V516A	CFB_ENST00000477310.1_Missense_Mutation_p.V867A|CFB_ENST00000456570.1_Missense_Mutation_p.V1018A|CFB_ENST00000556679.1_Missense_Mutation_p.V1018A	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	516	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGGCTGTGGTGTCTGAGTAC	0.502																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(3052-3054)gTg>gCg		complement factor B							126.0	90.0	103.0					6																	31918103		1510	2709	4219	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31918103T>C	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1547T>C	6.37:g.31918103T>C	ENSP00000416561:p.Val516Ala					CFB_ENST00000556679.1_Missense_Mutation_p.V1018A|CFB_ENST00000477310.1_Missense_Mutation_p.V867A|CFB_ENST00000425368.2_Missense_Mutation_p.V516A	p.V1018A			P00751	CFAB_HUMAN			24	3108	+			516					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.3053T>C	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609428	0.87258	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.49	5.49	0.81192	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000228	T	0.54319	0.1851	M	0.83692	2.655	0.54753	D	0.999981	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.991	T	0.62595	-0.6821	10	0.87932	D	0	-26.3576	12.2649	0.54672	0.0:0.0:0.0:1.0	.	1018;516;516	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	A	1018;516;1018;867	ENSP00000451848:V1018A;ENSP00000416561:V516A;ENSP00000410815:V1018A;ENSP00000418996:V867A	ENSP00000416561:V516A	V	+	2	0	CFB;XXbac-BPG116M5.17	32026082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.951000	0.63610	2.216000	0.71823	0.379000	0.24179	GTG		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		3	39	0	0	0	1	0	3	39				
MSL3	10943	broad.mit.edu	37	X	11783816	11783816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783816G>T	ENST00000312196.4	+	9	1244	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I	MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000361672.2_Missense_Mutation_p.S231I|MSL3_ENST00000380693.3_Missense_Mutation_p.S214I|MSL3_ENST00000337339.2_Missense_Mutation_p.S380I|MSL3_ENST00000398527.2_Missense_Mutation_p.S368I	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	380	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACATCCGCCAGCATGCCCAAG	0.607																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1138-1140)aGc>aTc		male-specific lethal 3 homolog (Drosophila)							87.0	81.0	83.0					X																	11783816		2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783816G>T	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1139G>T	X.37:g.11783816G>T	ENSP00000312244:p.Ser380Ile					MSL3_ENST00000361672.2_Missense_Mutation_p.S231I|MSL3_ENST00000380693.3_Missense_Mutation_p.S214I|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000312196.4_Missense_Mutation_p.S380I|MSL3_ENST00000398527.2_Missense_Mutation_p.S368I	p.S380I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1166	+			380					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1139G>T	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200735	0.38905	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693	T;T;T;T;T	0.11604	3.12;2.79;2.76;2.94;2.77	4.32	3.45	0.39498	.	0.416389	0.27522	N	0.018987	T	0.14270	0.0345	M	0.77820	2.39	0.31955	N	0.609104	P;P;B;P;P	0.45902	0.457;0.454;0.207;0.681;0.868	B;B;B;B;B	0.37650	0.255;0.188;0.144;0.255;0.243	T	0.18147	-1.0346	10	0.46703	T	0.11	.	11.724	0.51698	0.0:0.6683:0.3317:0.0	.	368;231;321;380;380	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	I	380;380;231;368;214	ENSP00000312244:S380I;ENSP00000338078:S380I;ENSP00000354562:S231I;ENSP00000381538:S368I;ENSP00000370069:S214I	ENSP00000312244:S380I	S	+	2	0	MSL3	11693737	1.000000	0.71417	0.984000	0.44739	0.627000	0.37826	2.258000	0.43249	0.694000	0.31654	0.600000	0.82982	AGC		0.607	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		34	66	1	0	2.42023e-17	1	3.13592e-17	34	66				
FKBP9	11328	broad.mit.edu	37	7	33039868	33039868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33039868C>T	ENST00000242209.4	+	8	1537	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	FKBP9_ENST00000490776.2_Silent_p.G224G|FKBP9_ENST00000538336.1_Silent_p.G509G|AVL9_ENST00000404479.1_Intron|RNU6-388P_ENST00000517012.1_RNA|FKBP9_ENST00000538443.1_Silent_p.G318G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	456	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGAAGCTGGCGTGGGTGAGT	0.527																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1366-1368)ggC>ggT		FK506 binding protein 9, 63 kDa							51.0	49.0	50.0					7																	33039868		2202	4278	6480	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33039868C>T	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1368C>T	7.37:g.33039868C>T						AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.G318G|FKBP9_ENST00000538336.1_Silent_p.G509G|FKBP9_ENST00000490776.2_Silent_p.G224G	p.G456G	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		8	1537	+			456			PPIase FKBP-type 4.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.1368C>T	CCDS5439.1																																																																																				0.527	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		8	26	0	0	0	1	0	8	26				
WDHD1	11169	broad.mit.edu	37	14	55408345	55408345	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55408345G>T	ENST00000360586.3	-	26	3318	c.3253C>A	c.(3253-3255)Cgt>Agt	p.R1085S	WDHD1_ENST00000421192.1_Missense_Mutation_p.R962S|WDHD1_ENST00000359167.4_Missense_Mutation_p.R603S|WDHD1_ENST00000420358.2_Missense_Mutation_p.R962S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1085					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCAACCACACGTTTTCGCTTC	0.373																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(3253-3255)Cgt>Agt		WD repeat and HMG-box DNA binding protein 1							150.0	154.0	152.0					14																	55408345		2202	4300	6502	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55408345G>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.3253C>A	14.37:g.55408345G>T	ENSP00000353793:p.Arg1085Ser					WDHD1_ENST00000421192.1_Missense_Mutation_p.R962S|WDHD1_ENST00000359167.4_Missense_Mutation_p.R603S|WDHD1_ENST00000420358.2_Missense_Mutation_p.R962S	p.R1085S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			26	3318	-			1085					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.3253C>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816320	0.32145	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.68181	0.04;0.48;-0.31	5.68	1.71	0.24356	.	0.621900	0.16825	N	0.198017	T	0.67878	0.2940	M	0.63843	1.955	0.25778	N	0.984768	D;P	0.56746	0.977;0.954	P;P	0.55871	0.786;0.578	T	0.57015	-0.7883	10	0.17369	T	0.5	.	6.5269	0.22307	0.2152:0.1285:0.6564:0.0	.	603;1085	F8W7P7;O75717	.;WDHD1_HUMAN	S	1085;603;962	ENSP00000353793:R1085S;ENSP00000352085:R603S;ENSP00000391049:R962S	ENSP00000352085:R603S	R	-	1	0	WDHD1	54478095	0.736000	0.28164	0.104000	0.21259	0.038000	0.13279	1.497000	0.35649	0.349000	0.23975	-0.126000	0.14955	CGT		0.373	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		21	41	1	0	2.39556e-15	1	3.07139e-15	21	41				
GIMAP5	55340	broad.mit.edu	37	7	150439967	150439967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150439967C>T	ENST00000358647.3	+	3	1107	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	247					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTACCAGGCCAAAGTGGAA	0.552																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(739-741)gCc>gTc		GTPase, IMAP family member 5							85.0	69.0	75.0					7																	150439967		2203	4300	6503	SO:0001583	missense	55340							g.chr7:150439967C>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.740C>T	7.37:g.150439967C>T	ENSP00000351473:p.Ala247Val					GIMAP5_ENST00000479556.1_3'UTR	p.A247V	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1107	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.740C>T	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708298	0.48412	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.06218	3.33	4.12	-3.28	0.05033	.	0.726708	0.10084	U	0.717998	T	0.05823	0.0152	L	0.48642	1.525	0.09310	N	1	P	0.49090	0.919	B	0.40165	0.321	T	0.36529	-0.9744	10	0.38643	T	0.18	.	9.0301	0.36254	0.6576:0.2114:0.131:0.0	.	247	Q96F15	GIMA5_HUMAN	V	247;283	ENSP00000351473:A247V	ENSP00000351473:A247V	A	+	2	0	GIMAP5	150070900	0.000000	0.05858	0.361000	0.25849	0.573000	0.36030	-1.260000	0.02858	-0.232000	0.09811	0.557000	0.71058	GCC		0.552	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		45	39	0	0	0	1	0	45	39				
ZFHX4	79776	broad.mit.edu	37	8	77765762	77765762	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765762T>C	ENST00000521891.2	+	10	7053	c.6605T>C	c.(6604-6606)gTt>gCt	p.V2202A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2157A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2176A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2157A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTATAACGGTTTTAGAAGAT	0.358										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(6604-6606)gTt>gCt		zinc finger homeobox 4							129.0	125.0	126.0					8																	77765762		1860	4100	5960	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765762T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6605T>C	8.37:g.77765762T>C	ENSP00000430497:p.Val2202Ala	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2176A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2157A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2157A	p.V2202A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7053	+			2157					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6605T>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441652	0.43326	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48522	0.81;0.85;0.82;0.82	4.05	4.05	0.47172	Homeodomain-like (1);	0.000000	0.40064	U	0.001195	T	0.35595	0.0937	L	0.36672	1.1	0.36198	D	0.850526	B;B;B	0.24368	0.062;0.102;0.102	B;B;B	0.24541	0.024;0.054;0.054	T	0.33979	-0.9847	10	0.12430	T	0.62	.	13.4444	0.61131	0.0:0.0:0.0:1.0	.	2157;2157;2202	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	A	2202;2186;2157;2157;2176	ENSP00000430497:V2202A;ENSP00000399605:V2157A;ENSP00000050961:V2157A;ENSP00000430848:V2176A	ENSP00000050961:V2157A	V	+	2	0	ZFHX4	77928317	1.000000	0.71417	0.671000	0.29857	0.821000	0.46438	4.722000	0.61958	1.840000	0.53500	0.454000	0.30748	GTT		0.358	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		46	68	0	0	0	1	0	46	68				
ATAD3B	83858	broad.mit.edu	37	1	1421519	1421519	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421519C>T	ENST00000308647.7	+	10	1109	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	331						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGCGACATCGCCATAGCAA	0.647																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(991-993)atC>atT		ATPase family, AAA domain containing 3B							74.0	86.0	82.0					1																	1421519		2203	4299	6502	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421519C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.993C>T	1.37:g.1421519C>T							p.I331I	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	10	1109	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	331					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.993C>T	CCDS30.1																																																																																				0.647	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		13	44	0	0	0	1	0	13	44				
DZIP3	9666	broad.mit.edu	37	3	108363603	108363603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108363603G>T	ENST00000361582.3	+	14	1964	c.1734G>T	c.(1732-1734)caG>caT	p.Q578H	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q578H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	578					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAATCATACAGAGGATGTTAT	0.398																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1732-1734)caG>caT		DAZ interacting zinc finger protein 3							77.0	74.0	75.0					3																	108363603		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363603G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1734G>T	3.37:g.108363603G>T	ENSP00000355028:p.Gln578His					DZIP3_ENST00000463306.1_Missense_Mutation_p.Q578H	p.Q578H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1964	+			578					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1734G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735889	0.49045	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.23147	1.92;1.92	3.93	3.05	0.35203	.	0.343695	0.21888	N	0.067622	T	0.35828	0.0945	L	0.44542	1.39	0.31051	N	0.715247	D;D;D	0.64830	0.978;0.994;0.989	P;D;P	0.65010	0.496;0.931;0.737	T	0.30001	-0.9993	10	0.87932	D	0	-4.3195	7.4585	0.27280	0.1173:0.0:0.8827:0.0	.	196;578;578	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	H	578	ENSP00000355028:Q578H;ENSP00000419981:Q578H	ENSP00000355028:Q578H	Q	+	3	2	DZIP3	109846293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.383000	0.44354	1.224000	0.43551	0.591000	0.81541	CAG		0.398	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		6	76	1	0	4.096e-09	1	4.95403e-09	6	76				
MUC16	94025	broad.mit.edu	37	19	9089734	9089734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9089734G>A	ENST00000397910.4	-	1	2284	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	694	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAGGCTGGTTCCTTCCCT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2080-2082)aCc>aTc		mucin 16, cell surface associated							100.0	101.0	101.0					19																	9089734		2049	4208	6257	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089734G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2081C>T	19.37:g.9089734G>A	ENSP00000381008:p.Thr694Ile						p.T694I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2284	-			694			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2081C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.758	-0.487458	0.04352	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.32	-1.51	0.08664	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	D	0.58268	0.982	B	0.37451	0.25	T	0.49916	-0.8888	8	0.87932	D	0	.	6.6645	0.23032	0.0:0.5549:0.4451:0.0	.	694	B5ME49	.	I	694	ENSP00000381008:T694I	ENSP00000381008:T694I	T	-	2	0	MUC16	8950734	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.404000	0.02494	-0.327000	0.08551	0.205000	0.17691	ACC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	53	0	0	0	1	0	28	53				
RSRC1	51319	broad.mit.edu	37	3	158261971	158261971	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158261971G>A	ENST00000295930.3	+	10	1074		c.e10-1		RSRC1_ENST00000475278.2_Splice_Site|RSRC1_ENST00000312179.6_Splice_Site|RP11-538P18.2_ENST00000475981.1_RNA|RSRC1_ENST00000480820.1_Splice_Site|RSRC1_ENST00000464171.1_Splice_Site	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTTATTTCAGTTATTTATCG	0.343																																						ENST00000464171.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.e9-1		arginine/serine-rich coiled-coil 1							73.0	79.0	77.0					3																	158261971		2203	4300	6503	SO:0001630	splice_region_variant	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158261971G>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.913-1G>A	3.37:g.158261971G>A						RSRC1_ENST00000295930.3_Splice_Site|RSRC1_ENST00000312179.6_Splice_Site|RSRC1_ENST00000475278.2_Splice_Site|RSRC1_ENST00000480820.1_Splice_Site		NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		9	863	+								A8K2R9|Q96QK2|Q9NZE5	Splice_Site	SNP	ENST00000295930.3	37		CCDS3181.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.702017	0.68501	.	.	ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000464171;ENST00000312179;ENST00000475278	.	.	.	5.81	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4288	0.44395	0.0698:0.0:0.7953:0.1349	.	.	.	.	.	-1	.	.	.	+	.	.	RSRC1	159744665	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.735000	0.84939	0.773000	0.33404	0.655000	0.94253	.		0.343	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625	Intron	24	39	0	0	0	1	0	24	39				
ZIC5	85416	broad.mit.edu	37	13	100617819	100617819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617819C>T	ENST00000267294.4	-	2	2037	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	602					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGTCCAGCACAGGGGACAAG	0.617																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1804-1806)Gtg>Atg		Zic family member 5							72.0	77.0	75.0					13																	100617819		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617819C>T	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1804G>A	13.37:g.100617819C>T	ENSP00000267294:p.Val602Met						p.V602M	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2037	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		602					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1804G>A	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741463	0.69304	.	.	ENSG00000139800	ENST00000267294	T	0.12361	2.69	5.84	5.0	0.66597	.	.	.	.	.	T	0.12646	0.0307	L	0.36672	1.1	0.25739	N	0.985184	P	0.34699	0.464	B	0.29353	0.101	T	0.10683	-1.0619	9	0.48119	T	0.1	.	14.5896	0.68354	0.0:0.9295:0.0:0.0705	.	602	Q96T25	ZIC5_HUMAN	M	602	ENSP00000267294:V602M	ENSP00000267294:V602M	V	-	1	0	ZIC5	99415820	0.033000	0.19621	0.998000	0.56505	0.920000	0.55202	0.921000	0.28718	1.474000	0.48178	-0.136000	0.14681	GTG		0.617	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		28	54	0	0	0	1	0	28	54				
ZNF32	7580	broad.mit.edu	37	10	44139911	44139911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:44139911C>T	ENST00000395797.1	-	3	597	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.E137K|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCCACACTCCTTGCACTGA	0.498																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(409-411)Gag>Aag		zinc finger protein 32							152.0	139.0	143.0					10																	44139911		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139911C>T	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.409G>A	10.37:g.44139911C>T	ENSP00000379143:p.Glu137Lys					ZNF32_ENST00000374433.2_Missense_Mutation_p.E137K|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	p.E137K	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	597	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	137					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.409G>A	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932198	0.73442	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.35973	1.28;1.28	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000138	T	0.32315	0.0825	N	0.20986	0.625	0.35048	D	0.76033	B	0.31625	0.332	B	0.38954	0.286	T	0.49872	-0.8893	10	0.72032	D	0.01	-17.521	15.5643	0.76277	0.0:1.0:0.0:0.0	.	137	P17041	ZNF32_HUMAN	K	137	ENSP00000363556:E137K;ENSP00000379143:E137K	ENSP00000363556:E137K	E	-	1	0	ZNF32	43459917	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.676000	0.25247	2.796000	0.96246	0.655000	0.94253	GAG		0.498	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		18	32	0	0	0	1	0	18	32				
IL17C	27189	broad.mit.edu	37	16	88705694	88705694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88705694C>T	ENST00000244241.4	+	2	361	c.312C>T	c.(310-312)cgC>cgT	p.R104R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	104					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCCACCAGCGCTCCATCTCAC	0.697																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(310-312)cgC>cgT		interleukin 17C							17.0	23.0	21.0					16																	88705694		2168	4277	6445	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88705694C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.312C>T	16.37:g.88705694C>T							p.R104R	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	361	+			104					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.312C>T	CCDS42217.1																																																																																				0.697	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		3	25	0	0	0	1	0	3	25				
URB2	9816	broad.mit.edu	37	1	229763385	229763385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229763385C>T	ENST00000258243.2	+	2	141	c.5C>T	c.(4-6)gCt>gTt	p.A2V	TAF5L_ENST00000366674.1_5'Flank|TAF5L_ENST00000477957.1_5'Flank|TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366675.3_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	2						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTAGCCATGGCTGCTGTTTAT	0.378																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4-6)gCt>gTt		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							77.0	82.0	80.0					1																	229763385		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229763385C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.5C>T	1.37:g.229763385C>T	ENSP00000258243:p.Ala2Val						p.A2V	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			2	141	+			2					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.5C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181697	0.94885	.	.	ENSG00000135763	ENST00000258243	T	0.59224	0.28	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64567	-0.6377	9	.	.	.	-16.0811	19.4053	0.94646	0.0:1.0:0.0:0.0	.	2	Q14146	URB2_HUMAN	V	2	ENSP00000258243:A2V	.	A	+	2	0	URB2	227830008	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.242000	0.78210	2.669000	0.90835	0.561000	0.74099	GCT		0.378	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		8	65	0	0	0	1	0	8	65				
PCBP2	5094	broad.mit.edu	37	12	53861626	53861626	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53861626G>A	ENST00000439930.3	+	11	859	c.837G>A	c.(835-837)tgG>tgA	p.W279*	PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000359462.5_Splice_Site_p.W279*|PCBP2_ENST00000447282.1_Splice_Site_p.W248*|PCBP2_ENST00000546463.1_Splice_Site_p.W275*|PCBP2_ENST00000603815.1_Splice_Site_p.W279*|PCBP2_ENST00000548933.1_Splice_Site_p.W248*|PCBP2_ENST00000552296.2_Splice_Site_p.W275*|PCBP2_ENST00000359282.5_Splice_Site_p.W244*|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000549863.1_Splice_Site_p.W234*|PCBP2_ENST00000437231.1_Intron			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	279					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AAGGCTATTGGGGTAATGATT	0.378																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.e12+1		poly(rC) binding protein 2							114.0	112.0	113.0					12																	53861626		2203	4300	6503	SO:0001630	splice_region_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53861626G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.838+1G>A	12.37:g.53861626G>A						PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000548933.1_Splice_Site_p.W248_splice|PCBP2_ENST00000359282.5_Splice_Site_p.W244_splice|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000359462.5_Splice_Site_p.W279_splice|PCBP2_ENST00000552296.2_Splice_Site_p.W275_splice|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000439930.3_Splice_Site_p.W279_splice|PCBP2_ENST00000447282.1_Splice_Site_p.W248_splice|PCBP2_ENST00000549863.1_Splice_Site_p.W234_splice|PCBP2_ENST00000546463.1_Splice_Site_p.W275_splice	p.W279_splice	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			12	1187	+			279					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Splice_Site	SNP	ENST00000439930.3	37	c.838_splice	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331795	0.60853	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000548933;ENST00000379777;ENST00000553064	.	.	.	5.64	5.64	0.86602	.	0.537334	0.20981	N	0.082204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	16.9727	0.86304	0.0:0.0:1.0:0.0	.	.	.	.	X	244;248;279;234;279;221;275;275;236;248;196;108	.	ENSP00000352228:W244X	W	+	3	0	PCBP2	52147893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.860000	0.69546	2.812000	0.96745	0.557000	0.71058	TGG		0.378	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016	Nonsense_Mutation	6	101	0	0	0	1	0	6	101				
THOC1	9984	broad.mit.edu	37	18	265475	265475	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:265475A>C	ENST00000261600.6	-	2	117	c.110T>G	c.(109-111)tTc>tGc	p.F37C	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	37					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACCTGGCTGAAGGTACTTAA	0.343																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(109-111)tTc>tGc		THO complex 1							72.0	69.0	70.0					18																	265475		1827	4083	5910	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:265475A>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.110T>G	18.37:g.265475A>C	ENSP00000261600:p.Phe37Cys					THOC1_ENST00000582313.1_5'UTR	p.F37C	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			2	117	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	37					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.110T>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293266	0.40594	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	L	0.27053	0.805	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.81914	0.988;0.995	T	0.63954	-0.6520	9	0.35671	T	0.21	-10.2887	16.2861	0.82722	1.0:0.0:0.0:0.0	.	37;37	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	C	37	.	ENSP00000261600:F37C	F	-	2	0	THOC1	255475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.730000	0.91510	2.322000	0.78497	0.528000	0.53228	TTC		0.343	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	4	0	0	0	1	0	7	4				
MXRA5	25878	broad.mit.edu	37	X	3229611	3229611	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229611C>T	ENST00000217939.6	-	7	6787	c.6633G>A	c.(6631-6633)gtG>gtA	p.V2211V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2211	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGTCCGTCACTGATTTCA	0.453																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6631-6633)gtG>gtA		matrix-remodelling associated 5							69.0	64.0	65.0					X																	3229611		2203	4297	6500	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229611C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6633G>A	X.37:g.3229611C>T							p.V2211V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	6787	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2211			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6633G>A	CCDS14124.1																																																																																				0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	75	0	0	0	1	0	10	75				
PRDM7	11105	broad.mit.edu	37	16	90161014	90161014	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90161014G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGGGCCCTTCGGGCAGGTCTT	0.667																																						ENST00000567960.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90161014G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161014G>A	Exception_encountered					TUBB8P7_ENST00000564451.1_RNA								0	244	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.667	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			23	64	0	0	0	1	0	23	64				
SYCP2L	221711	broad.mit.edu	37	6	10906267	10906267	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10906267G>T	ENST00000283141.6	+	9	952	c.656G>T	c.(655-657)aGg>aTg	p.R219M	SYCP2L_ENST00000543878.1_Missense_Mutation_p.R60M|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	219						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GACCTTGCAAGGACACTCTTG	0.338																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(655-657)aGg>aTg		synaptonemal complex protein 2-like							151.0	151.0	151.0					6																	10906267		1809	4079	5888	SO:0001583	missense	221711					nucleus		g.chr6:10906267G>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.656G>T	6.37:g.10906267G>T	ENSP00000283141:p.Arg219Met					SYCP2L_ENST00000543878.1_Missense_Mutation_p.R60M|RP11-637O19.3_ENST00000480294.1_3'UTR	p.R219M	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		9	952	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	219					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.656G>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197966	0.38806	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.46063	0.88;2.16	5.5	4.61	0.57282	.	0.261736	0.38837	N	0.001556	T	0.47783	0.1464	M	0.71581	2.175	0.80722	D	1	D;P	0.71674	0.998;0.655	P;B	0.61592	0.891;0.121	T	0.52442	-0.8575	10	0.87932	D	0	-16.353	8.2853	0.31924	0.1692:0.0:0.8308:0.0	.	60;219	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	M	60;219	ENSP00000440676:R60M;ENSP00000283141:R219M	ENSP00000283141:R219M	R	+	2	0	SYCP2L	11014253	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.474000	0.35398	2.732000	0.93576	0.650000	0.86243	AGG		0.338	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		11	150	1	0	9.31168e-06	1	1.06029e-05	11	150				
HEATR6	63897	broad.mit.edu	37	17	58133519	58133519	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58133519C>A	ENST00000184956.6	-	13	2175	c.2159G>T	c.(2158-2160)tGc>tTc	p.C720F	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	720							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCCCCCATGCACTTGCAAAT	0.428																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(2158-2160)tGc>tTc		HEAT repeat containing 6							164.0	142.0	149.0					17																	58133519		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58133519C>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2159G>T	17.37:g.58133519C>A	ENSP00000184956:p.Cys720Phe					HEATR6_ENST00000585976.1_Intron	p.C720F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		13	2175	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		720					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.2159G>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502457	0.85176	.	.	ENSG00000068097	ENST00000184956	T	0.64260	-0.09	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.58454	0.839	T	0.76424	-0.2964	10	0.49607	T	0.09	-12.6237	18.3544	0.90352	0.0:1.0:0.0:0.0	.	720	Q6AI08	HEAT6_HUMAN	F	720	ENSP00000184956:C720F	ENSP00000184956:C720F	C	-	2	0	HEATR6	55488301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.359000	0.79477	2.655000	0.90218	0.650000	0.86243	TGC		0.428	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		43	84	1	0	7.77092e-38	1	1.04706e-37	43	84				
TRAV18	28665	broad.mit.edu	37	14	22471692	22471692	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22471692A>G	ENST00000390446.3	+	0	220									T cell receptor alpha variable 18																		GGCAGCTCTGACATTAAACTG	0.443																																						ENST00000390446.3																			0																				83.0	86.0	85.0					14																	22471692		1910	4131	6041			0							g.chr14:22471692A>G	AE000660		14q11.2	2012-02-07			ENSG00000211798	ENSG00000211798		"""T cell receptors / TRA locus"""	12114	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV18S1			OTTHUMG00000170644		14.37:g.22471692A>G														0	220	+									RNA	SNP	ENST00000390446.3	37																																																																																						0.443	TRAV18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409892.1	NG_001332		26	51	0	0	0	1	0	26	51				
MYH7B	57644	broad.mit.edu	37	20	33568531	33568531	+	Missense_Mutation	SNP	C	C	A	rs376078249		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568531C>A	ENST00000262873.7	+	6	711	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	165	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAACGACATGCTGCGCAGTAA	0.642																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(619-621)Ctg>Atg		myosin, heavy chain 7B, cardiac muscle, beta		C	MET/LEU	1,4147		0,1,2073	48.0	54.0	52.0		619	2.5	1.0	20		52	0,8398		0,0,4199	no	missense	MYH7B	NM_020884.3	15	0,1,6272	AA,AC,CC		0.0,0.0241,0.0080	possibly-damaging	207/1984	33568531	1,12545	2074	4199	6273	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33568531C>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.619C>A	20.37:g.33568531C>A	ENSP00000262873:p.Leu207Met					MYH7B_ENST00000481922.1_3'UTR	p.L207M	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		6	711	+			165			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.619C>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341497	0.61073	2.41E-4	0.0	ENSG00000078814	ENST00000262873	T	0.74002	-0.8	4.46	2.52	0.30459	Myosin head, motor domain (2);	0.000000	0.31010	N	0.008423	T	0.80243	0.4587	M	0.80422	2.495	0.41357	D	0.987401	P	0.44139	0.827	P	0.54706	0.759	T	0.80422	-0.1389	10	0.87932	D	0	.	5.7257	0.18013	0.0:0.6151:0.1516:0.2333	.	165	A7E2Y1	MYH7B_HUMAN	M	207	ENSP00000262873:L207M	ENSP00000262873:L207M	L	+	1	2	MYH7B	33032192	0.998000	0.40836	1.000000	0.80357	0.917000	0.54804	0.621000	0.24418	1.234000	0.43709	-0.137000	0.14449	CTG		0.642	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		13	25	1	0	0.000308642	1	0.000336111	13	25				
AR	367	broad.mit.edu	37	X	66766152	66766152	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66766152G>A	ENST00000374690.3	+	1	1688	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.K388K|AR_ENST00000396044.3_Silent_p.K388K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	386	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTCGCATCAAGCTGGAGAACC	0.711									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(1162-1164)aaG>aaA		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						6.0	6.0	6.0					X																	66766152		2159	4172	6331	SO:0001819	synonymous_variant	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66766152G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1164G>A	X.37:g.66766152G>A						AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.K388K|AR_ENST00000504326.1_Silent_p.K388K	p.K388K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	1688	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	386			Modulating.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.1164G>A	CCDS14387.1																																																																																				0.711	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	2	0	0	0	1	0	3	2				
DOCK7	85440	broad.mit.edu	37	1	63005469	63005469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63005469G>T	ENST00000340370.5	-	25	3064	c.3047C>A	c.(3046-3048)gCt>gAt	p.A1016D	DOCK7_ENST00000251157.5_Missense_Mutation_p.A1047D	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1047					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCTGACAAGAGCTGCAATGTC	0.383																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(3139-3141)gCt>gAt		dedicator of cytokinesis 7							78.0	76.0	77.0					1																	63005469		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63005469G>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3047C>A	1.37:g.63005469G>T	ENSP00000340742:p.Ala1016Asp					DOCK7_ENST00000340370.5_Missense_Mutation_p.A1016D	p.A1047D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			26	3173	-			1047					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3140C>A	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.268176|5.268176	0.95429|0.95429	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	T;T|.	0.25912|.	1.77;1.77|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73337|0.73337	0.3574|0.3574	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.996;0.992;0.995;0.996;0.98|.	D;D;D;P;P|.	0.66497|.	0.931;0.944;0.917;0.886;0.876|.	T|T	0.69213|0.69213	-0.5204|-0.5204	10|5	0.56958|.	D|.	0.05|.	.|.	19.5721|19.5721	0.95425|0.95425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1047;1016;1016;1016;1047|.	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	.;.;.;.;.|.	D|R	1047;1047;1016|218	ENSP00000251157:A1047D;ENSP00000340742:A1016D|.	ENSP00000251157:A1047D|.	A|S	-|-	2|3	0|2	DOCK7|DOCK7	62778057|62778057	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	9.657000|9.657000	0.98554|0.98554	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.383	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		6	35	1	0	2.0095e-06	1	2.31757e-06	6	35				
LRRC1	55227	broad.mit.edu	37	6	53762158	53762158	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53762158G>A	ENST00000370888.1	+	7	919		c.e7+1			NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1							cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ATTACCTCAGGTAAGTGGTAA	0.368																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.e7+1		leucine rich repeat containing 1							65.0	64.0	64.0					6																	53762158		2203	4300	6503	SO:0001630	splice_region_variant	55227					cytoplasm|membrane		g.chr6:53762158G>A	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.642+1G>A	6.37:g.53762158G>A								NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	7	919	+	Lung NSC(77;0.0147)							Q5TGN3|Q9HAC0|Q9NVF1	Splice_Site	SNP	ENST00000370888.1	37		CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604253	0.87157	.	.	ENSG00000137269	ENST00000370888	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6883	0.88262	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC1	53870117	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	9.222000	0.95196	2.415000	0.81967	0.655000	0.94253	.		0.368	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	Intron	14	6	0	0	0	1	0	14	6				
RASGRP3	25780	broad.mit.edu	37	2	33747045	33747045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33747045G>T	ENST00000403687.3	+	7	1132	c.392G>T	c.(391-393)aGa>aTa	p.R131I	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R131I|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R131I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	131					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R131K(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGATGAGAAGAGTCACACAG	0.438																																						ENST00000403687.3																			1	Substitution - Missense(1)	p.R131K(1)	lung(1)	large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(391-393)aGa>aTa		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							124.0	120.0	121.0					2																	33747045		1887	4107	5994	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33747045G>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.392G>T	2.37:g.33747045G>T	ENSP00000384192:p.Arg131Ile					RASGRP3_ENST00000407811.1_Missense_Mutation_p.R131I|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R131I	p.R131I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			7	1132	+	all_hematologic(175;0.115)		131					D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.392G>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403867	0.83230	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000407811	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	6.03	6.03	0.97812	Ras guanine nucleotide exchange factor, domain (1);	0.049983	0.85682	D	0.000000	T	0.36663	0.0975	L	0.36672	1.1	0.58432	D	0.999998	P;P	0.44429	0.835;0.835	P;P	0.46362	0.514;0.514	T	0.02512	-1.1148	10	0.52906	T	0.07	-20.8731	20.5752	0.99366	0.0:0.0:1.0:0.0	.	131;131	D6W583;Q8IV61	.;GRP3_HUMAN	I	131	ENSP00000385886:R131I;ENSP00000393866:R131I;ENSP00000384192:R131I;ENSP00000383917:R131I	ENSP00000385886:R131I	R	+	2	0	RASGRP3	33600549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.339000	0.72969	2.868000	0.98415	0.557000	0.71058	AGA		0.438	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		9	86	1	0	2.17888e-05	1	2.45068e-05	9	86				
VTI1B	10490	broad.mit.edu	37	14	68118192	68118192	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68118192T>C	ENST00000554659.1	-	6	950	c.609A>G	c.(607-609)acA>acG	p.T203T	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	203					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		GCTTGTTGGTTGTCACTCTAC	0.458																																						ENST00000554659.1																			0				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(607-609)acA>acG		vesicle transport through interaction with t-SNAREs 1B							55.0	57.0	56.0					14																	68118192		2203	4300	6503	SO:0001819	synonymous_variant	10490				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane		g.chr14:68118192T>C	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.609A>G	14.37:g.68118192T>C						ARG2_ENST00000261783.3_3'UTR	p.T203T	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN		all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)	6	950	-			203					O43547|Q96J28	Silent	SNP	ENST00000554659.1	37	c.609A>G	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662768	0.47572	.	.	ENSG00000100568	ENST00000554636	.	.	.	5.78	-2.98	0.05513	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30416	-0.9979	4	.	.	.	.	2.2502	0.04042	0.1987:0.3792:0.2037:0.2185	.	.	.	.	R	81	.	.	Q	-	2	0	VTI1B	67187945	0.844000	0.29557	0.769000	0.31535	0.999000	0.98932	0.152000	0.16302	-0.626000	0.05596	0.533000	0.62120	CAA		0.458	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2			15	19	0	0	0	1	0	15	19				
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(571-573)agC>agT		LIM and cysteine-rich domains 1							93.0	100.0	98.0					3																	8590439		2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8590439C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.573C>T	3.37:g.8590439C>T						LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1-AS1_ENST00000439407.1_RNA	p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	4	805	+			191			PET.		B4DG80	Silent	SNP	ENST00000157600.3	37	c.573C>T	CCDS33688.1																																																																																				0.587	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		34	68	0	0	0	1	0	34	68				
CSF2RA	1438	broad.mit.edu	37	X	1413223	1413223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1413223C>T	ENST00000381524.3	+	8	835	c.649C>T	c.(649-651)Cga>Tga	p.R217*	BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000494969.2_Intron|BX649553.2_ENST00000578699.1_RNA|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.R84*|MIR3690_ENST00000580266.1_RNA|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.R217*			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	217					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTTACAGAACGATTCAACCC	0.582																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(649-651)Cga>Tga		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						478.0	405.0	429.0					X																	1413223		2203	4296	6499	SO:0001587	stop_gained	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413223C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.649C>T	X.37:g.1413223C>T	ENSP00000370935:p.Arg217*					CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.R84*|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000355805.2_Intron	p.R217*			P15509	CSF2R_HUMAN			8	835	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	217					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Nonsense_Mutation	SNP	ENST00000381524.3	37	c.649C>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.457840	0.63401	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	.	.	.	1.54	-3.09	0.05331	.	6.118140	0.01189	U	0.007264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.991	0.19460	0.6462:0.3538:0.0:0.0	.	.	.	.	X	217;217;217;217;84;217;217;217;217;217;217	.	ENSP00000347606:R217X	R	+	1	2	CSF2RA	1373223	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.115000	0.10741	-0.918000	0.03808	0.100000	0.15512	CGA		0.582	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			25	162	0	0	0	1	0	25	162				
LRRN3	54674	broad.mit.edu	37	7	110764050	110764050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764050C>T	ENST00000422987.3	+	2	2053	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.R408W|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.R408W|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	408	LRRCT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCAGAATGTTCGGCAAGTGCA	0.438																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1222-1224)Cgg>Tgg		leucine rich repeat neuronal 3							125.0	111.0	115.0					7																	110764050		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764050C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1222C>T	7.37:g.110764050C>T	ENSP00000412417:p.Arg408Trp					LRRN3_ENST00000422987.3_Missense_Mutation_p.R408W|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.R408W	p.R408W	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2268	+			408			LRRCT.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1222C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430898	0.43122	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.63096	-0.02;-0.02;-0.02	6.01	5.11	0.69529	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.56097	D	0.000030	T	0.71592	0.3358	M	0.73962	2.25	0.48762	D	0.999704	D	0.69078	0.997	P	0.54210	0.745	T	0.73069	-0.4099	10	0.40728	T	0.16	.	13.3678	0.60696	0.4671:0.5329:0.0:0.0	.	408	Q9H3W5	LRRN3_HUMAN	W	408	ENSP00000312001:R408W;ENSP00000397312:R408W;ENSP00000412417:R408W	ENSP00000312001:R408W	R	+	1	2	LRRN3	110551286	0.974000	0.33945	0.994000	0.49952	0.885000	0.51271	2.018000	0.40991	1.486000	0.48398	0.650000	0.86243	CGG		0.438	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		6	107	0	0	0	1	0	6	107				
NTRK2	4915	broad.mit.edu	37	9	87635123	87635123	+	Silent	SNP	C	C	T	rs202166941		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87635123C>T	ENST00000323115.4	+	16	2480	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	NTRK2_ENST00000376214.1_Silent_p.V725V|NTRK2_ENST00000277120.3_Silent_p.V725V|NTRK2_ENST00000376213.1_Silent_p.V709V			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CTCCCCAGGTCGGTGGCCACA	0.567										TSP Lung(25;0.17)																												ENST00000376214.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(2173-2175)gtC>gtT		neurotrophic tyrosine kinase, receptor, type 2							97.0	91.0	93.0					9																	87635123		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87635123C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2127C>T	9.37:g.87635123C>T		TSP Lung(25;0.17)				NTRK2_ENST00000323115.4_Silent_p.V709V|NTRK2_ENST00000376213.1_Silent_p.V709V|NTRK2_ENST00000277120.3_Silent_p.V725V	p.V725V	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN			20	3113	+			709			Protein kinase.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.2175C>T	CCDS35050.1																																																																																				0.567	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			39	50	0	0	0	1	0	39	50				
DIRC2	84925	broad.mit.edu	37	3	122591370	122591370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122591370C>A	ENST00000261038.5	+	8	1645	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	416					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAAGGAATTACTTGTGGAGTT	0.333																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(1246-1248)aCt>aAt		disrupted in renal carcinoma 2							144.0	148.0	146.0					3																	122591370		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122591370C>A	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1247C>A	3.37:g.122591370C>A	ENSP00000261038:p.Thr416Asn						p.T416N	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	8	1645	+			416					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.1247C>A	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521417	0.64747	.	.	ENSG00000138463	ENST00000261038	T	0.58940	0.3	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.68593	2.085	0.80722	D	1	P	0.38827	0.649	B	0.32805	0.153	T	0.58323	-0.7656	10	0.45353	T	0.12	.	16.8478	0.85985	0.0:0.872:0.128:0.0	.	416	Q96SL1	DIRC2_HUMAN	N	416	ENSP00000261038:T416N	ENSP00000261038:T416N	T	+	2	0	DIRC2	124074060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.391000	0.66266	2.937000	0.99478	0.650000	0.86243	ACT		0.333	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		56	79	1	0	1.19403e-26	1	1.59107e-26	56	79				
FAT4	79633	broad.mit.edu	37	4	126355525	126355525	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126355525G>T	ENST00000394329.3	+	7	7157	c.7144G>T	c.(7144-7146)Gat>Tat	p.D2382Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D680Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2382	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACTGGAACAGATGTTTTATT	0.368																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7144-7146)Gat>Tat		FAT atypical cadherin 4							202.0	171.0	182.0					4																	126355525		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126355525G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7144G>T	4.37:g.126355525G>T	ENSP00000377862:p.Asp2382Tyr					FAT4_ENST00000335110.5_Missense_Mutation_p.D680Y	p.D2382Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			7	7157	+			2382			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7144G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696897	0.30142	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51817	0.69;0.69	5.0	5.0	0.66597	Cadherin (3);Cadherin-like (1);	0.000000	0.35320	U	0.003294	T	0.49541	0.1563	N	0.05078	-0.115	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	T	0.58836	-0.7566	10	0.40728	T	0.16	.	18.5243	0.90965	0.0:0.0:1.0:0.0	.	680;2382	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	Y	2382;680	ENSP00000377862:D2382Y;ENSP00000335169:D680Y	ENSP00000335169:D680Y	D	+	1	0	FAT4	126574975	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	6.579000	0.74036	2.596000	0.87737	0.655000	0.94253	GAT		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		31	63	1	0	1.88708e-17	1	2.44853e-17	31	63				
USH2A	7399	broad.mit.edu	37	1	215802181	215802181	+	Missense_Mutation	SNP	G	G	A	rs146892520	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215802181G>A	ENST00000307340.3	-	71	15880	c.15494C>T	c.(15493-15495)gCc>gTc	p.A5165V	USH2A_ENST00000366943.2_Missense_Mutation_p.A5189V|SNORD116_ENST00000365628.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5165					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCCATGATGGCTTCCCACAG	0.493										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15565-15567)gCc>gTc		Usher syndrome 2A (autosomal recessive, mild)							99.0	100.0	100.0					1																	215802181		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215802181G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15494C>T	1.37:g.215802181G>A	ENSP00000305941:p.Ala5165Val	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.A5165V	p.A5189V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	72	15952	-			5165					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15566C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805890	0.50421	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.45668	0.89;0.89	5.67	5.67	0.87782	.	0.168594	0.27522	U	0.018988	T	0.24122	0.0584	N	0.08118	0	0.21822	N	0.999529	B	0.20887	0.049	B	0.16722	0.016	T	0.09058	-1.0692	10	0.16420	T	0.52	.	15.2721	0.73712	0.0:0.1396:0.8604:0.0	.	5165	O75445	USH2A_HUMAN	V	5165;5189	ENSP00000305941:A5165V;ENSP00000355910:A5189V	ENSP00000305941:A5165V	A	-	2	0	USH2A	213868804	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	4.644000	0.61397	2.665000	0.90641	0.591000	0.81541	GCC		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		32	63	0	0	0	1	0	32	63				
KAT6B	23522	broad.mit.edu	37	10	76781930	76781930	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76781930A>G	ENST00000287239.4	+	16	3802	c.3313A>G	c.(3313-3315)Aat>Gat	p.N1105D	RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.N813D|KAT6B_ENST00000372714.1_Missense_Mutation_p.N813D|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.N922D|KAT6B_ENST00000372724.1_Missense_Mutation_p.N813D	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1105					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										agaagaagaaAATATTCAAAG	0.448											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000287239.4																			0											c.(3313-3315)Aat>Gat		K(lysine) acetyltransferase 6B							63.0	59.0	60.0					10																	76781930		2198	4298	6496	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76781930A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3313A>G	10.37:g.76781930A>G	ENSP00000287239:p.Asn1105Asp		OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.N813D|KAT6B_ENST00000372711.1_Missense_Mutation_p.N922D|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.N813D|KAT6B_ENST00000372714.1_Missense_Mutation_p.N813D	p.N1105D	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			16	3802	+			1105					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3313A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.745579	0.30955	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.62498	0.02;0.02;0.24;0.02;0.29	5.95	0.944	0.19537	.	0.529186	0.16987	N	0.191450	T	0.27731	0.0682	N	0.03608	-0.345	0.24554	N	0.994002	B;B;B	0.27791	0.066;0.0;0.189	B;B;B	0.26770	0.053;0.001;0.073	T	0.27536	-1.0071	10	0.06757	T	0.87	-5.6351	4.6723	0.12694	0.4841:0.2737:0.2422:0.0	.	922;813;1105	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	D	813;813;1105;813;922	ENSP00000361810:N813D;ENSP00000361809:N813D;ENSP00000287239:N1105D;ENSP00000361799:N813D;ENSP00000361796:N922D	ENSP00000287239:N1105D	N	+	1	0	KAT6B	76451936	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	1.253000	0.32886	0.522000	0.28464	0.460000	0.39030	AAT		0.448	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		40	38	0	0	0	1	0	40	38				
ZNF664	144348	broad.mit.edu	37	12	124497044	124497044	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124497044G>T	ENST00000539644.1	+	6	2183	c.353G>T	c.(352-354)aGt>aTt	p.S118I	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000392404.3_Missense_Mutation_p.S118I|ZNF664_ENST00000538932.2_Missense_Mutation_p.S118I|ZNF664_ENST00000337815.4_Missense_Mutation_p.S118I			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TATGTCTGTAGTGAGTGTGGA	0.448																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(352-354)aGt>aTt		zinc finger protein 664							73.0	85.0	81.0					12																	124497044		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497044G>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.353G>T	12.37:g.124497044G>T	ENSP00000441405:p.Ser118Ile					ZNF664_ENST00000337815.4_Missense_Mutation_p.S118I|ZNF664_ENST00000392404.3_Missense_Mutation_p.S118I|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.S118I	p.S118I			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2183	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		118					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.353G>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711158	0.48517	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000228	T	0.13670	0.0331	M	0.68952	2.095	0.31885	N	0.617896	P	0.45396	0.857	P	0.45712	0.491	T	0.02797	-1.1109	10	0.56958	D	0.05	-37.6075	10.4735	0.44650	0.0:0.1971:0.8029:0.0	.	118	Q8N3J9	ZN664_HUMAN	I	118;118;118;118;56	ENSP00000441405:S118I;ENSP00000376205:S118I;ENSP00000440645:S118I;ENSP00000337320:S118I	ENSP00000337320:S118I	S	+	2	0	ZNF664	123062997	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.230000	0.17852	2.651000	0.90000	0.655000	0.94253	AGT		0.448	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		7	113	1	0	0.00198382	1	0.00210581	7	113				
SH3RF1	57630	broad.mit.edu	37	4	170028083	170028083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170028083C>T	ENST00000284637.9	-	11	2754	c.2413G>A	c.(2413-2415)Gca>Aca	p.A805T		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	805					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGGGAACTGCGGAGTCCAGG	0.592																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(2413-2415)Gca>Aca		SH3 domain containing ring finger 1							59.0	63.0	61.0					4																	170028083		2202	4295	6497	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170028083C>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2413G>A	4.37:g.170028083C>T	ENSP00000284637:p.Ala805Thr						p.A805T	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	11	2754	-		Prostate(90;0.00267)|Renal(120;0.0183)	805					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2413G>A	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	1.156	-0.645181	0.03531	.	.	ENSG00000154447	ENST00000284637	T	0.16897	2.31	5.87	2.24	0.28232	Src homology-3 domain (1);	0.534082	0.23058	N	0.052409	T	0.07728	0.0194	N	0.17474	0.49	0.09310	N	1	B	0.19073	0.033	B	0.09377	0.004	T	0.37820	-0.9689	10	0.10636	T	0.68	-14.5452	6.1185	0.20139	0.0:0.4955:0.1282:0.3763	.	805	Q7Z6J0	SH3R1_HUMAN	T	805	ENSP00000284637:A805T	ENSP00000284637:A805T	A	-	1	0	SH3RF1	170264658	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	0.060000	0.14342	0.838000	0.34948	-0.142000	0.14014	GCA		0.592	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		5	76	0	0	0	1	0	5	76				
F13A1	2162	broad.mit.edu	37	6	6318784	6318784	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:6318784C>T	ENST00000264870.3	-	2	379	c.114G>A	c.(112-114)cgG>cgA	p.R38R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	38		Cleavage; by thrombin; to produce active factor XIII-A.			blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTTGACGCCCCGGGGCACCA	0.622																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(112-114)cgG>cgA		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						121.0	107.0	112.0					6																	6318784		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6318784C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.114G>A	6.37:g.6318784C>T							p.R38R	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			2	379	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	38				Cleavage; by thrombin; to produce active factor XIII-A.	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.114G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	1.709	-0.499672	0.04291	.	.	ENSG00000124491	ENST00000451619	.	.	.	4.64	0.482	0.16815	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14309	-1.0477	4	.	.	.	.	4.2961	0.10902	0.0:0.4167:0.1658:0.4175	.	.	.	.	E	63	.	.	G	-	2	0	F13A1	6263783	0.996000	0.38824	0.961000	0.40146	0.109000	0.19521	0.347000	0.20014	-0.115000	0.11915	0.643000	0.83706	GGG		0.622	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		38	85	0	0	0	1	0	38	85				
IP6K2	51447	broad.mit.edu	37	3	48732511	48732511	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48732511G>A	ENST00000328631.5	-	2	426				IP6K2_ENST00000449610.1_Silent_p.L72L|IP6K2_ENST00000417896.1_Silent_p.L72L|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000431721.2_Silent_p.L127L|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000446860.1_Silent_p.L130L|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000453202.1_Silent_p.L72L|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000443964.1_Silent_p.L131L	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCCTCCAGCAGCTGGGACTTA	0.597																																						ENST00000431721.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(379-381)Ctg>Ttg		inositol hexakisphosphate kinase 2							72.0	68.0	69.0					3																	48732511		2203	4300	6503	SO:0001627	intron_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732511G>A	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+11C>T	3.37:g.48732511G>A						IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000453202.1_Silent_p.L72L|IP6K2_ENST00000417896.1_Silent_p.L72L|IP6K2_ENST00000446860.1_Silent_p.L130L|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_Silent_p.L72L|IP6K2_ENST00000443964.1_Silent_p.L131L|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000340879.4_Intron	p.L127L	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN			3	616	-			158					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	ENST00000328631.5	37	c.379C>T	CCDS2777.1																																																																																				0.597	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		5	48	0	0	0	1	0	5	48				
POLI	11201	broad.mit.edu	37	18	51809233	51809233	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51809233C>T	ENST00000579534.1	+	6	966	c.823C>T	c.(823-825)Ctt>Ttt	p.L275F	POLI_ENST00000217800.5_Missense_Mutation_p.L149F|POLI_ENST00000406285.3_Missense_Mutation_p.L196F|POLI_ENST00000579434.1_Missense_Mutation_p.L172F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	275					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGCCAAATGTCTTGAAGCACT	0.303								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(823-825)Ctt>Ttt	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							47.0	43.0	45.0					18																	51809233		2200	4295	6495	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51809233C>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.823C>T	18.37:g.51809233C>T	ENSP00000462664:p.Leu275Phe					POLI_ENST00000217800.5_Missense_Mutation_p.L149F|POLI_ENST00000406285.3_Missense_Mutation_p.L196F|POLI_ENST00000579434.1_Missense_Mutation_p.L172F	p.L275F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	6	966	+			275					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.823C>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721057	0.48728	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.41065	1.01	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73984	-0.3810	10	0.87932	D	0	-16.5644	18.8957	0.92423	0.0:1.0:0.0:0.0	.	195;275	B7Z780;Q9UNA4	.;POLI_HUMAN	F	196;275	ENSP00000385196:L196F	ENSP00000217800:L275F	L	+	1	0	POLI	50063231	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.509000	0.73725	2.832000	0.97577	0.655000	0.94253	CTT		0.303	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		3	3	0	0	0	1	0	3	3				
C15orf41	84529	broad.mit.edu	37	15	37100621	37100621	+	Silent	SNP	G	G	A	rs372706927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37100621G>A	ENST00000566621.1	+	11	1063	c.813G>A	c.(811-813)acG>acA	p.T271T	C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562489.1_Silent_p.T95T|C15orf41_ENST00000437989.2_Silent_p.T271T|C15orf41_ENST00000569302.1_Silent_p.T277T|C15orf41_ENST00000338183.4_Silent_p.T173T|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000563167.1_Missense_Mutation_p.E34K|C15orf41_ENST00000567389.1_Silent_p.T173T|C15orf41_ENST00000562877.1_Silent_p.T173T	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	271										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTTTCCCCACGAACATTGTCA	0.493																																						ENST00000563167.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(100-102)Gaa>Aaa		chromosome 15 open reading frame 41		G	,	0,3826		0,0,1913	106.0	100.0	102.0		813,519	-6.9	0.8	15		102	1,8261		0,1,4130	no	coding-synonymous,coding-synonymous	C15orf41	NM_001130010.1,NM_032499.4	,	0,1,6043	AA,AG,GG		0.0121,0.0,0.0083	,	271/282,173/184	37100621	1,12087	1913	4131	6044	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:37100621G>A	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.813G>A	15.37:g.37100621G>A						C15orf41_ENST00000338183.4_Silent_p.T173T|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562489.1_Silent_p.T95T|C15orf41_ENST00000437989.2_Silent_p.T271T|C15orf41_ENST00000562877.1_Silent_p.T173T|C15orf41_ENST00000567389.1_Silent_p.T173T|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000569302.1_Silent_p.T277T|C15orf41_ENST00000566621.1_Silent_p.T271T	p.E34K			Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	2	259	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	0					B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	c.100G>A	CCDS45215.1																																																																																				0.493	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		12	23	0	0	0	1	0	12	23				
CDK2	1017	broad.mit.edu	37	12	56361852	56361852	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56361852A>G	ENST00000266970.4	+	3	454	c.214A>G	c.(214-216)Aca>Gca	p.T72A	CDK2_ENST00000440311.2_Missense_Mutation_p.T46A|PMEL_ENST00000550447.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000354056.4_Missense_Mutation_p.T72A|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000360714.4_5'Flank|CDK2_ENST00000553376.1_Missense_Mutation_p.T72A|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000539511.1_5'Flank|PMEL_ENST00000550464.1_5'Flank|PMEL_ENST00000449260.2_5'Flank|PMEL_ENST00000536427.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	TGTCATTCACACAGAAAATAA	0.438																																						ENST00000266970.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(214-216)Aca>Gca		cyclin-dependent kinase 2							140.0	137.0	138.0					12																	56361852		2203	4300	6503	SO:0001583	missense	1017				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding	g.chr12:56361852A>G	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.214A>G	12.37:g.56361852A>G	ENSP00000266970:p.Thr72Ala					CDK2_ENST00000440311.2_Missense_Mutation_p.T46A|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000354056.4_Missense_Mutation_p.T72A|CDK2_ENST00000553376.1_Missense_Mutation_p.T72A	p.T72A	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		3	454	+			72			Protein kinase.		A8K7C6|O75100	Missense_Mutation	SNP	ENST00000266970.4	37	c.214A>G	CCDS8898.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.440281	0.25900	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000440311;ENST00000354056	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.73	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	N	0.21194	0.64	0.58432	D	0.999996	B;B;B	0.27117	0.061;0.168;0.001	B;B;B	0.25759	0.063;0.052;0.004	T	0.34551	-0.9824	10	0.22109	T	0.4	-6.9966	10.8358	0.46685	0.8411:0.1589:0.0:0.0	.	46;72;72	E7ESI2;P24941-2;P24941	.;.;CDK2_HUMAN	A	72;72;46;72	ENSP00000266970:T72A;ENSP00000452514:T72A;ENSP00000393605:T46A;ENSP00000243067:T72A	ENSP00000266970:T72A	T	+	1	0	CDK2	54648119	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.967000	0.70403	0.916000	0.36871	0.402000	0.26972	ACA		0.438	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			6	104	0	0	0	1	0	6	104				
LARS	51520	broad.mit.edu	37	5	145524035	145524035	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145524035G>A	ENST00000394434.2	-	17	1821	c.1655C>T	c.(1654-1656)aCa>aTa	p.T552I	LARS_ENST00000274562.9_Splice_Site_p.T525I|LARS_ENST00000510191.1_Splice_Site_p.T498I|LARS_ENST00000545646.1_Splice_Site_p.T506I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	552					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCCATCTTACGTTTCCAGGTT	0.363																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.e17+1		leucyl-tRNA synthetase	L-Leucine(DB00149)						161.0	154.0	156.0					5																	145524035		2203	4300	6503	SO:0001630	splice_region_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145524035G>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1655+1C>T	5.37:g.145524035G>A						LARS_ENST00000545646.1_Splice_Site_p.T506_splice|LARS_ENST00000274562.9_Splice_Site_p.T525_splice|LARS_ENST00000510191.1_Splice_Site_p.T498_splice	p.T552_splice	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	1821	-			552					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Splice_Site	SNP	ENST00000394434.2	37	c.1655_splice	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840693	0.71488	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.54	5.54	0.83059	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	L	0.52206	1.635	0.80722	D	1	P;D;P	0.71674	0.95;0.998;0.889	P;P;B	0.58780	0.59;0.845;0.252	T	0.17198	-1.0377	9	.	.	.	-9.248	19.8397	0.96678	0.0:0.0:1.0:0.0	.	525;506;552	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	I	552;506;498;525	ENSP00000377954:T552I;ENSP00000437791:T506I;ENSP00000426005:T498I;ENSP00000274562:T525I	.	T	-	2	0	LARS	145504228	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.055000	0.93873	2.768000	0.95171	0.491000	0.48974	ACA		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	Missense_Mutation	24	70	0	0	0	1	0	24	70				
LRRC36	55282	broad.mit.edu	37	16	67401011	67401011	+	Silent	SNP	G	G	A	rs368367370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67401011G>A	ENST00000329956.6	+	8	865	c.846G>A	c.(844-846)aaG>aaA	p.K282K	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Silent_p.K161K|LRRC36_ENST00000290940.7_Silent_p.K14K|LRRC36_ENST00000435835.3_Silent_p.K161K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	282										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGGACAATAAGTCTTCAGGTT	0.433																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(844-846)aaG>aaA		leucine rich repeat containing 36							105.0	106.0	106.0					16																	67401011		2198	4300	6498	SO:0001819	synonymous_variant	55282							g.chr16:67401011G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.846G>A	16.37:g.67401011G>A						LRRC36_ENST00000435835.3_Silent_p.K161K|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Silent_p.K14K|LRRC36_ENST00000563189.1_Silent_p.K161K	p.K282K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	8	865	+		Ovarian(137;0.192)	282					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	c.846G>A	CCDS32467.1																																																																																				0.433	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		56	72	0	0	0	1	0	56	72				
IGSF10	285313	broad.mit.edu	37	3	151155345	151155345	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151155345C>A	ENST00000282466.3	-	6	7003	c.7004G>T	c.(7003-7005)aGa>aTa	p.R2335I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTCGGTCTTCTCAGCATTTC	0.438																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(7003-7005)aGa>aTa		immunoglobulin superfamily, member 10							138.0	136.0	137.0					3																	151155345		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155345C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7004G>T	3.37:g.151155345C>A	ENSP00000282466:p.Arg2335Ile					IGSF10_ENST00000495443.1_5'UTR	p.R2335I	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7003	-			2335					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.7004G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684412	0.68157	.	.	ENSG00000152580	ENST00000282466	T	0.70045	-0.45	5.77	5.77	0.91146	Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000244	T	0.79707	0.4492	L	0.53249	1.67	0.28808	N	0.898414	D;D	0.76494	0.999;0.998	D;D	0.74348	0.983;0.953	T	0.74118	-0.3768	10	0.52906	T	0.07	.	19.9792	0.97320	0.0:1.0:0.0:0.0	.	2335;362	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2335	ENSP00000282466:R2335I	ENSP00000282466:R2335I	R	-	2	0	IGSF10	152638035	0.960000	0.32886	0.965000	0.40720	0.993000	0.82548	5.515000	0.67049	2.727000	0.93392	0.591000	0.81541	AGA		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		7	142	1	0	1.12685e-05	1	1.27857e-05	7	142				
KPNA2	3838	broad.mit.edu	37	17	66040087	66040087	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66040087C>T	ENST00000537025.2	+	8	1684	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V	KPNA2_ENST00000330459.3_Missense_Mutation_p.A355V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	355	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAGGAAGCTACGTGGACA	0.493																																						ENST00000537025.2																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22						c.(1063-1065)gCt>gTt		karyopherin alpha 2 (RAG cohort 1, importin alpha 1)							166.0	177.0	173.0					17																	66040087		2203	4296	6499	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66040087C>T	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1064C>T	17.37:g.66040087C>T	ENSP00000438483:p.Ala355Val					KPNA2_ENST00000330459.3_Missense_Mutation_p.A355V	p.A355V			P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		8	1684	+	all_cancers(12;1.18e-09)		355			NLS binding site (minor) (By similarity).		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.1064C>T	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822469	0.71028	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	D;D	0.83506	-1.73;-1.73	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	D	0.87212	0.6121	M	0.87971	2.92	0.80722	D	1	P	0.41159	0.74	B	0.40477	0.33	D	0.89516	0.3775	10	0.87932	D	0	.	19.4797	0.95005	0.0:1.0:0.0:0.0	.	355	P52292	IMA2_HUMAN	V	355	ENSP00000332455:A355V;ENSP00000438483:A355V	ENSP00000332455:A355V	A	+	2	0	KPNA2	63470549	1.000000	0.71417	0.992000	0.48379	0.507000	0.33981	5.955000	0.70306	2.591000	0.87537	0.552000	0.68991	GCT		0.493	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		62	109	0	0	0	1	0	62	109				
ABCB8	11194	broad.mit.edu	37	7	150739132	150739132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150739132G>A	ENST00000297504.6	+	15	1819	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	ABCB8_ENST00000498578.1_Missense_Mutation_p.A568T|ABCB8_ENST00000358849.4_Missense_Mutation_p.A568T|ABCB8_ENST00000542328.1_Missense_Mutation_p.A480T|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	585	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GTACACAGCCGCCCGGGAAGC	0.607																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1702-1704)Gcc>Acc		ATP-binding cassette, sub-family B (MDR/TAP), member 8							63.0	65.0	64.0					7																	150739132		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150739132G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1753G>A	7.37:g.150739132G>A	ENSP00000297504:p.Ala585Thr					ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.A585T|ABCB8_ENST00000498578.1_Missense_Mutation_p.A568T|ABCB8_ENST00000542328.1_Missense_Mutation_p.A480T	p.A568T	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	1795	+			585			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1702G>A		.	.	.	.	.	.	.	.	.	.	G	18.37	3.610195	0.66558	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.19	5.19	0.71726	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.056260	0.64402	D	0.000001	D	0.95478	0.8531	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.996;0.996;0.993	D	0.95153	0.8274	10	0.52906	T	0.07	-25.8122	16.2407	0.82405	0.0:0.0:1.0:0.0	.	480;568;585;568	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	T	568;551;585;480;568	ENSP00000351717:A568T;ENSP00000297504:A585T;ENSP00000438776:A480T;ENSP00000418271:A568T	ENSP00000297504:A585T	A	+	1	0	ABCB8	150370065	1.000000	0.71417	0.713000	0.30519	0.042000	0.13812	6.429000	0.73387	2.698000	0.92095	0.561000	0.74099	GCC		0.607	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		25	66	0	0	0	1	0	25	66				
PCDH15	65217	broad.mit.edu	37	10	55973781	55973781	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55973781A>T	ENST00000320301.6	-	10	1407	c.1013T>A	c.(1012-1014)tTc>tAc	p.F338Y	PCDH15_ENST00000373965.2_Missense_Mutation_p.F338Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.F316Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F301Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.F316Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.F343Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.F338Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.F338Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGCATATGGAAAAATCGTGG	0.368										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1012-1014)tTc>tAc		protocadherin-related 15							88.0	89.0	89.0					10																	55973781		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55973781A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1013T>A	10.37:g.55973781A>T	ENSP00000322604:p.Phe338Tyr	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.F316Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.F301Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.F338Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.F338Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.F316Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.F338Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.F343Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.F338Y	p.F338Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			10	1407	-		Melanoma(3;0.117)|Lung SC(717;0.238)	338			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1013T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386253	0.82902	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;1.79;0.48;0.48;0.48;0.48;0.48;0.48;0.48	4.84	4.84	0.62591	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75361	0.3839	M	0.89785	3.06	0.53688	D	0.999971	P;D;D;D;P;D;P;P;D;D;P;P;P;P;D	0.67145	0.928;0.996;0.996;0.996;0.917;0.996;0.928;0.951;0.985;0.996;0.732;0.883;0.783;0.925;0.996	P;P;P;P;P;P;P;P;P;D;P;P;P;P;P	0.65233	0.499;0.905;0.905;0.874;0.733;0.905;0.499;0.718;0.861;0.933;0.613;0.718;0.777;0.651;0.874	T	0.81658	-0.0833	9	0.72032	D	0.01	.	14.3517	0.66708	1.0:0.0:0.0:0.0	.	316;338;338;343;338;301;338;338;338;338;338;343;338;316;338	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	338;343;338;338;338;338;338;338;301;338;316;316;338;338;343;338;338	ENSP00000363076:F338Y;ENSP00000410304:F343Y;ENSP00000378826:F338Y;ENSP00000378832:F338Y;ENSP00000378833:F338Y;ENSP00000378829:F338Y;ENSP00000378827:F338Y;ENSP00000378820:F301Y;ENSP00000354950:F338Y;ENSP00000378821:F316Y;ENSP00000363068:F316Y;ENSP00000322604:F338Y;ENSP00000378818:F338Y;ENSP00000412628:F338Y;ENSP00000363066:F338Y	ENSP00000322604:F338Y	F	-	2	0	PCDH15	55643787	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.592000	0.74095	1.943000	0.56356	0.455000	0.32223	TTC		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		4	70	0	0	0	1	0	4	70				
SGK3	23678	broad.mit.edu	37	8	67752295	67752295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67752295G>A	ENST00000396596.1	+	11	1013	c.799G>A	c.(799-801)Gct>Act	p.A267T	SGK3_ENST00000522398.1_Missense_Mutation_p.A267T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.A267T|SGK3_ENST00000345714.4_Missense_Mutation_p.A267T|SGK3_ENST00000520976.1_Missense_Mutation_p.A267T|SGK3_ENST00000521198.2_Missense_Mutation_p.A267T|SGK3_ENST00000521435.1_3'UTR	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGGTTTTACGCTGCTGAAAT	0.368																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(799-801)Gct>Act		serum/glucocorticoid regulated kinase family, member 3							131.0	116.0	121.0					8																	67752295		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67752295G>A		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.799G>A	8.37:g.67752295G>A	ENSP00000379842:p.Ala267Thr					SGK3_ENST00000345714.4_Missense_Mutation_p.A267T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.A267T|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000520976.1_Missense_Mutation_p.A267T|SGK3_ENST00000521198.2_Missense_Mutation_p.A267T|SGK3_ENST00000522398.1_Missense_Mutation_p.A267T	p.A267T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		11	1013	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	267			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.799G>A	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674511	0.67928	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000521152	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.29	3.51	0.40186	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.108917	0.64402	D	0.000005	T	0.65260	0.2674	N	0.20881	0.62	0.36896	D	0.890159	D;D	0.63880	0.968;0.993	P;P	0.58970	0.682;0.849	T	0.72144	-0.4379	9	0.45353	T	0.12	.	11.8056	0.52152	0.1437:0.0:0.8563:0.0	.	267;267	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	T	267;267;267;267;267;267;267;164	ENSP00000429022:A267T;ENSP00000430463:A267T;ENSP00000430256:A267T;ENSP00000430691:A267T;ENSP00000379842:A267T;ENSP00000331816:A267T;ENSP00000429565:A164T	ENSP00000262211:A267T	A	+	1	0	SGK3	67914849	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	6.037000	0.70956	0.605000	0.29947	-0.143000	0.13931	GCT		0.368	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			31	50	0	0	0	1	0	31	50				
ARHGEF12	23365	broad.mit.edu	37	11	120348158	120348158	+	Missense_Mutation	SNP	G	G	A	rs528014894		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120348158G>A	ENST00000397843.2	+	36	3621	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G1049E|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G1133E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1152					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCTACAGAGGAGATAATGAT	0.353			T	MLL	AML								G|||	1	0.000199681	0.0008	0.0	5008	,	,		13356	0.0		0.0	False		,,,				2504	0.0					ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3454-3456)gGa>gAa		Rho guanine nucleotide exchange factor (GEF) 12							70.0	68.0	69.0					11																	120348158		1834	4092	5926	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120348158G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3455G>A	11.37:g.120348158G>A	ENSP00000380942:p.Gly1152Glu					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G1049E|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G1133E	p.G1152E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	36	3621	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1152					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3455G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438870	0.12104	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.64260	0.02;-0.09;0.03	4.9	3.0	0.34707	.	0.137034	0.33144	N	0.005227	T	0.37679	0.1012	L	0.27053	0.805	0.39684	D	0.970942	B;B;B	0.19583	0.001;0.037;0.022	B;B;B	0.19148	0.001;0.024;0.011	T	0.24693	-1.0153	10	0.02654	T	1	-6.2031	4.4848	0.11785	0.235:0.1819:0.5831:0.0	.	1049;1133;1152	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	E	1152;1133;1049	ENSP00000380942:G1152E;ENSP00000349056:G1133E;ENSP00000432984:G1049E	ENSP00000349056:G1133E	G	+	2	0	ARHGEF12	119853368	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	2.318000	0.43779	0.562000	0.29204	-0.291000	0.09656	GGA		0.353	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		18	31	0	0	0	1	0	18	31				
ANKRD12	23253	broad.mit.edu	37	18	9255390	9255390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9255390C>T	ENST00000262126.4	+	9	2365	c.2125C>T	c.(2125-2127)Ctc>Ttc	p.L709F	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L686F|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L686F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	709						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaCTGAAGATCTCTTTTTAAA	0.294																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(2056-2058)Ctc>Ttc		ankyrin repeat domain 12							37.0	39.0	38.0					18																	9255390		2116	4187	6303	SO:0001583	missense	23253					nucleus		g.chr18:9255390C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2125C>T	18.37:g.9255390C>T	ENSP00000262126:p.Leu709Phe					ANKRD12_ENST00000262126.3_Missense_Mutation_p.L709F|ANKRD12_ENST00000400020.3_Missense_Mutation_p.L686F	p.L686F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	2313	+			709					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.2056C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	4.130	0.022463	0.08006	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.93307	-3.2;-3.2	5.06	3.12	0.35913	.	0.752919	0.12128	N	0.497078	D	0.89801	0.6820	L	0.44542	1.39	0.09310	N	0.999997	P;P;P	0.42203	0.773;0.573;0.624	B;B;B	0.40534	0.332;0.232;0.154	T	0.82394	-0.0479	10	0.59425	D	0.04	-1.5063	9.1344	0.36866	0.3728:0.5165:0.1107:0.0	.	336;686;709	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	F	686;709;416;4	ENSP00000372932:L686F;ENSP00000262126:L709F	ENSP00000262126:L709F	L	+	1	0	ANKRD12	9245390	0.000000	0.05858	0.829000	0.32907	0.812000	0.45895	0.168000	0.16622	1.224000	0.43551	0.460000	0.39030	CTC		0.294	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		11	9	0	0	0	1	0	11	9				
MAST4	375449	broad.mit.edu	37	5	66430419	66430419	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66430419C>T	ENST00000403625.2	+	18	2590	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	MAST4_ENST00000404260.3_Silent_p.D768D|MAST4_ENST00000405643.1_Silent_p.D586D|MAST4_ENST00000261569.7_Silent_p.D571D|MAST4_ENST00000403666.1_Silent_p.D576D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCGGTGGACTGGTGGGCCA	0.453																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(2302-2304)gaC>gaT		microtubule associated serine/threonine kinase family member 4							156.0	171.0	167.0					5																	66430419		1892	4140	6032	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66430419C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2295C>T	5.37:g.66430419C>T						MAST4_ENST00000403625.2_Silent_p.D765D|MAST4_ENST00000403666.1_Silent_p.D576D|MAST4_ENST00000405643.1_Silent_p.D586D|MAST4_ENST00000261569.7_Silent_p.D571D	p.D768D			O15021	MAST4_HUMAN		Lung(70;0.011)	18	2612	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	768			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.2304C>T	CCDS54861.1																																																																																				0.453	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			11	95	0	0	0	1	0	11	95				
ESR2	2100	broad.mit.edu	37	14	64700034	64700034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64700034C>T	ENST00000341099.4	-	9	1831	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.G381S|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000357782.2_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	472	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGTTCCATGCCCTTGTTACTA	0.552																																						ENST00000341099.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(1414-1416)Ggc>Agc		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						152.0	126.0	135.0					14																	64700034		2203	4300	6503	SO:0001583	missense	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64700034C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1414G>A	14.37:g.64700034C>T	ENSP00000343925:p.Gly472Ser					ESR2_ENST00000553796.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.G381S|ESR2_ENST00000554572.1_Intron	p.G472S	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	9	1831	-			472			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.1414G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692421	0.88735	.	.	ENSG00000140009	ENST00000341099;ENST00000267525	D;T	0.96427	-4.01;0.64	5.58	5.58	0.84498	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.98118	0.9379	M	0.78456	2.415	0.45852	D	0.998713	D;P	0.89917	1.0;0.922	D;P	0.97110	1.0;0.849	D	0.98829	1.0750	10	0.87932	D	0	.	19.5634	0.95382	0.0:1.0:0.0:0.0	.	381;472	Q92731-7;Q92731	.;ESR2_HUMAN	S	472;381	ENSP00000343925:G472S;ENSP00000267525:G381S	ENSP00000267525:G381S	G	-	1	0	ESR2	63769787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.305000	0.78891	2.625000	0.88918	0.561000	0.74099	GGC		0.552	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			5	94	0	0	0	1	0	5	94				
RAD51B	5890	broad.mit.edu	37	14	68301880	68301880	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68301880G>A	ENST00000487270.1	+	4	330	c.282G>A	c.(280-282)ctG>ctA	p.L94L	RAD51B_ENST00000488612.1_Silent_p.L94L|RAD51B_ENST00000487861.1_Silent_p.L94L|RAD51B_ENST00000390683.3_Silent_p.L94L|RAD51B_ENST00000471583.1_Silent_p.L94L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	94					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACGAAGCCCTGCATGGTGGTG	0.418								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(280-282)ctG>ctA	Direct reversal of damage	RAD51 paralog B							100.0	100.0	100.0					14																	68301880		2203	4300	6503	SO:0001819	synonymous_variant	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68301880G>A	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.282G>A	14.37:g.68301880G>A						RAD51B_ENST00000487861.1_Silent_p.L94L|RAD51B_ENST00000471583.1_Silent_p.L94L|RAD51B_ENST00000488612.1_Silent_p.L94L|RAD51B_ENST00000390683.3_Silent_p.L94L	p.L94L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			4	330	+			94					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	ENST00000487270.1	37	c.282G>A	CCDS9789.1																																																																																				0.418	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			17	27	0	0	0	1	0	17	27				
ZNF777	27153	broad.mit.edu	37	7	149129626	149129626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149129626G>A	ENST00000247930.4	-	6	2060	c.1737C>T	c.(1735-1737)tgC>tgT	p.C579C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGATCTCGCATTCGGCGC	0.627																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1735-1737)tgC>tgT		zinc finger protein 777							57.0	60.0	59.0					7																	149129626		2202	4300	6502	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129626G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1737C>T	7.37:g.149129626G>A							p.C579C	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2060	-	Melanoma(164;0.165)		579					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.1737C>T	CCDS43675.1																																																																																				0.627	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		21	25	0	0	0	1	0	21	25				
SPAG5	10615	broad.mit.edu	37	17	26919576	26919576	+	Missense_Mutation	SNP	C	C	T	rs141766452	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919576C>T	ENST00000321765.5	-	3	1018	c.686G>A	c.(685-687)cGt>cAt	p.R229H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	229					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TAAGTCCTCACGCACAGCCTC	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		22553	0.001		0.0	False		,,,				2504	0.002					ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(685-687)cGt>cAt		sperm associated antigen 5		C	HIS/ARG	0,4406		0,0,2203	130.0	121.0	124.0		686	1.4	0.0	17	dbSNP_134	124	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SPAG5	NM_006461.3	29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	229/1194	26919576	6,13000	2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919576C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.686G>A	17.37:g.26919576C>T	ENSP00000323300:p.Arg229His						p.R229H	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			3	1018	-	Lung NSC(42;0.00431)		229					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.686G>A	CCDS32594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.841	-0.741979	0.03088	0.0	6.98E-4	ENSG00000076382	ENST00000321765	T	0.20881	2.04	5.59	1.42	0.22433	.	0.767289	0.11903	N	0.518369	T	0.06917	0.0176	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	10	0.46703	T	0.11	0.8035	2.8362	0.05516	0.1579:0.143:0.5522:0.1469	.	229	Q96R06	SPAG5_HUMAN	H	229	ENSP00000323300:R229H	ENSP00000323300:R229H	R	-	2	0	SPAG5	23943703	0.619000	0.27059	0.003000	0.11579	0.042000	0.13812	1.033000	0.30191	0.052000	0.16007	-1.788000	0.00630	CGT		0.493	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		28	57	0	0	0	1	0	28	57				
CASP5	838	broad.mit.edu	37	11	104869616	104869616	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104869616T>C	ENST00000260315.3	-	7	1091	c.1092A>G	c.(1090-1092)acA>acG	p.T364T	CASP5_ENST00000531367.1_Silent_p.T222T|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Silent_p.T306T|CASP5_ENST00000418434.1_Silent_p.T222T|CASP5_ENST00000393141.2_Silent_p.T377T|CASP5_ENST00000526056.1_Silent_p.T377T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	364					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACATACGTGGTGTTGAAGAAC	0.443																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1129-1131)acA>acG		caspase 5, apoptosis-related cysteine peptidase							126.0	119.0	121.0					11																	104869616		2202	4299	6501	SO:0001819	synonymous_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104869616T>C		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.1092A>G	11.37:g.104869616T>C						CASP5_ENST00000531367.1_Silent_p.T222T|CASP5_ENST00000260315.3_Silent_p.T364T|CASP5_ENST00000526056.1_Silent_p.T377T|CASP5_ENST00000444749.2_Silent_p.T306T|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Silent_p.T222T	p.T377T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	7	1162	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	364					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	37	c.1131A>G	CCDS8328.2																																																																																				0.443	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		7	102	0	0	0	1	0	7	102				
SPSB3	90864	broad.mit.edu	37	16	1827157	1827157	+	Missense_Mutation	SNP	C	C	T	rs376744550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1827157C>T	ENST00000566339.1	-	7	1339	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	SPSB3_ENST00000301717.4_Missense_Mutation_p.A337T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	337					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGGGGTGGGCGGAGGTCGCT	0.672																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(1009-1011)Gcc>Acc		splA/ryanodine receptor domain and SOCS box containing 3		C	THR/ALA	2,4396		0,2,2197	35.0	37.0	36.0		1009	-0.6	0.0	16		36	0,8584		0,0,4292	no	missense	SPSB3	NM_080861.3	58	0,2,6489	TT,TC,CC		0.0,0.0455,0.0154	benign	337/356	1827157	2,12980	2199	4292	6491	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1827157C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.1009G>A	16.37:g.1827157C>T	ENSP00000457206:p.Ala337Thr					SPSB3_ENST00000301717.4_Missense_Mutation_p.A337T	p.A337T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			7	1339	-			337					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.1009G>A	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121294	0.20877	4.55E-4	0.0	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.45276	0.9	3.12	-0.634	0.11516	.	0.423706	0.19785	U	0.106125	T	0.28400	0.0702	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23048	-1.0199	10	0.15066	T	0.55	-22.7972	6.2455	0.20815	0.0:0.5294:0.358:0.1126	.	337	Q6PJ21	SPSB3_HUMAN	T	337;141	ENSP00000301717:A337T	ENSP00000301717:A337T	A	-	1	0	SPSB3	1767158	0.871000	0.30034	0.001000	0.08648	0.046000	0.14306	1.517000	0.35867	-0.089000	0.12484	0.462000	0.41574	GCC		0.672	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		30	28	0	0	0	1	0	30	28				
ZNF331	55422	broad.mit.edu	37	19	54081145	54081145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54081145G>A	ENST00000253144.9	+	7	2664	c.1331G>A	c.(1330-1332)tGc>tAc	p.C444Y	ZNF331_ENST00000511593.2_Missense_Mutation_p.C444Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.C444Y|ZNF331_ENST00000449416.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.C444Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTAAGGAGTGCGGGAAGGCA	0.488			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1330-1332)tGc>tAc		zinc finger protein 331							77.0	64.0	69.0					19																	54081145		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081145G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1331G>A	19.37:g.54081145G>A	ENSP00000253144:p.Cys444Tyr					ZNF331_ENST00000449416.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.C444Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.C444Y	p.C444Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2664	+			444					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1331G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311732	0.40895	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	3.58	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.472937	0.15877	N	0.240230	D	0.90048	0.6892	M	0.94142	3.5	0.27598	N	0.949074	P	0.49307	0.922	P	0.49421	0.61	D	0.84153	0.0424	10	0.87932	D	0	.	6.5765	0.22569	0.1347:0.0:0.8653:0.0	.	444	Q9NQX6	ZN331_HUMAN	Y	444	ENSP00000253144:C444Y;ENSP00000427439:C444Y;ENSP00000393817:C444Y;ENSP00000393336:C444Y;ENSP00000421014:C444Y;ENSP00000423156:C444Y;ENSP00000421728:C444Y	ENSP00000253144:C444Y	C	+	2	0	ZNF331	58772957	1.000000	0.71417	0.144000	0.22314	0.154000	0.21943	3.864000	0.56024	0.837000	0.34925	0.655000	0.94253	TGC		0.488	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		13	15	0	0	0	1	0	13	15				
VIT	5212	broad.mit.edu	37	2	36986260	36986260	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36986260C>T	ENST00000389975.3	+	6	789				VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000457137.2_Silent_p.S186S|VIT_ENST00000497382.1_Intron|VIT_ENST00000401530.1_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGGAGATAGCGGAGAAATTA	0.468																																						ENST00000457137.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(556-558)agC>agT		vitrin																																				SO:0001627	intron_variant	5212					proteinaceous extracellular matrix		g.chr2:36986260C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+71C>T	2.37:g.36986260C>T						VIT_ENST00000379241.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000389975.3_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000401530.1_Intron	p.S186S	NM_001177972.1	NP_001171443.1	Q6UXI7	VITRN_HUMAN			6	786	+		all_hematologic(82;0.248)	0					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.558C>T	CCDS54347.1																																																																																				0.468	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				14	30	0	0	0	1	0	14	30				
SLC13A1	6561	broad.mit.edu	37	7	122811844	122811844	+	Missense_Mutation	SNP	T	T	A	rs200496358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122811844T>A	ENST00000194130.2	-	3	382	c.343A>T	c.(343-345)Atg>Ttg	p.M115L	SLC13A1_ENST00000539873.1_Missense_Mutation_p.M51L	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	115					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACACCAACCATCATCACCATT	0.358																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(343-345)Atg>Ttg		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)	T	LEU/MET	1,4405	2.1+/-5.4	0,1,2202	249.0	222.0	231.0		343	5.8	1.0	7		231	0,8600		0,0,4300	no	missense	SLC13A1	NM_022444.3	15	0,1,6502	AA,AT,TT		0.0,0.0227,0.0077	benign	115/596	122811844	1,13005	2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122811844T>A		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.343A>T	7.37:g.122811844T>A	ENSP00000194130:p.Met115Leu					SLC13A1_ENST00000539873.1_Missense_Mutation_p.M51L	p.M115L	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			3	382	-			115					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.343A>T	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	6.225	0.409737	0.11812	2.27E-4	0.0	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.02472	4.28;4.28	5.79	5.79	0.91817	.	0.264771	0.43919	D	0.000507	T	0.01189	0.0039	N	0.02973	-0.45	0.22571	N	0.998972	B	0.02656	0.0	B	0.08055	0.003	T	0.48603	-0.9021	10	0.02654	T	1	.	6.4231	0.21754	0.2497:0.0:0.1379:0.6124	.	115	Q9BZW2	S13A1_HUMAN	L	115;51	ENSP00000194130:M115L;ENSP00000441309:M51L	ENSP00000194130:M115L	M	-	1	0	SLC13A1	122599080	0.935000	0.31712	1.000000	0.80357	0.590000	0.36582	-0.039000	0.12124	2.211000	0.71520	0.460000	0.39030	ATG		0.358	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		72	166	0	0	0	1	0	72	166				
ACTN2	88	broad.mit.edu	37	1	236914862	236914862	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236914862G>T	ENST00000366578.4	+	15	1915	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	ACTN2_ENST00000542672.1_Missense_Mutation_p.E583D|ACTN2_ENST00000546208.1_Missense_Mutation_p.E77D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	583					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGAGGTGGAGAAGGTGATTC	0.577																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1747-1749)gaG>gaT		actinin, alpha 2							118.0	98.0	105.0					1																	236914862		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236914862G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1749G>T	1.37:g.236914862G>T	ENSP00000355537:p.Glu583Asp					ACTN2_ENST00000546208.1_Missense_Mutation_p.E77D|ACTN2_ENST00000542672.1_Missense_Mutation_p.E583D	p.E583D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		15	1915	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	583					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1749G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059167	0.55325	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.70749	-0.51;-0.51;-0.51	5.08	4.17	0.49024	.	0.438115	0.26345	N	0.024904	T	0.50548	0.1622	N	0.11789	0.175	0.38865	D	0.956562	B;B;B;B	0.19331	0.011;0.003;0.035;0.011	B;B;B;B	0.19946	0.027;0.003;0.027;0.01	T	0.49960	-0.8883	10	0.52906	T	0.07	.	8.1462	0.31113	0.2601:0.0:0.7399:0.0	.	368;583;353;583	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	D	583;583;77;352	ENSP00000443495:E583D;ENSP00000355537:E583D;ENSP00000438384:E77D	ENSP00000355537:E583D	E	+	3	2	ACTN2	234981485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.669000	0.37492	1.139000	0.42245	0.563000	0.77884	GAG		0.577	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		9	57	1	0	1.76689e-08	1	2.11513e-08	9	57				
MYH10	4628	broad.mit.edu	37	17	8393675	8393675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8393675G>A	ENST00000269243.4	-	33	4912	c.4774C>T	c.(4774-4776)Cgg>Tgg	p.R1592W	MYH10_ENST00000360416.3_Missense_Mutation_p.R1623W|MYH10_ENST00000396239.1_Missense_Mutation_p.R1613W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1608W	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1592					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATCAGCAGCCGCTTCTTCTCT	0.557																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4867-4869)Cgg>Tgg		myosin, heavy chain 10, non-muscle							142.0	131.0	135.0					17																	8393675		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8393675G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4774C>T	17.37:g.8393675G>A	ENSP00000269243:p.Arg1592Trp					MYH10_ENST00000269243.4_Missense_Mutation_p.R1592W|MYH10_ENST00000396239.1_Missense_Mutation_p.R1613W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1608W	p.R1623W	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			35	5005	-			1592					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4867C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798980	0.70567	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.56	3.51	0.40186	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.90314	0.6970	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.982;0.989	D	0.91594	0.5289	10	0.87932	D	0	.	12.4316	0.55577	0.0:0.0:0.7662:0.2338	.	1601;1623;1592	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	W	1592;1623;1613;1608	ENSP00000269243:R1592W;ENSP00000353590:R1623W;ENSP00000379539:R1613W;ENSP00000369315:R1608W	ENSP00000269243:R1592W	R	-	1	2	MYH10	8334400	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.568000	0.36418	2.519000	0.84933	0.655000	0.94253	CGG		0.557	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			6	83	0	0	0	1	0	6	83				
OR10J3	441911	broad.mit.edu	37	1	159284386	159284386	+	Missense_Mutation	SNP	G	G	A	rs150299321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284386G>A	ENST00000332217.5	-	1	63	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453													g|||	1	0.000199681	0.0	0.0	5008	,	,		22123	0.0		0.001	False		,,,				2504	0.0					ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(64-66)Cgg>Tgg		olfactory receptor, family 10, subfamily J, member 3		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	175.0	183.0	180.0		64	2.8	0.9	1	dbSNP_134	180	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR10J3	NM_001004467.1	101	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	22/330	159284386	4,13002	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284386G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.64C>T	1.37:g.159284386G>A	ENSP00000331789:p.Arg22Trp						p.R22W	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	63	-	all_hematologic(112;0.0429)		22						Missense_Mutation	SNP	ENST00000332217.5	37	c.64C>T	CCDS30909.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	2.544	-0.305691	0.05495	4.54E-4	2.33E-4	ENSG00000196266	ENST00000332217	T	0.03004	4.08	5.13	2.79	0.32731	.	0.000000	0.29609	N	0.011678	T	0.00637	0.0021	N	0.13043	0.29	0.19300	N	0.999974	B	0.06786	0.001	B	0.01281	0.0	T	0.49254	-0.8959	10	0.33141	T	0.24	.	1.9492	0.03363	0.5821:0.1593:0.0874:0.1711	.	22	Q5JRS4	O10J3_HUMAN	W	22	ENSP00000331789:R22W	ENSP00000331789:R22W	R	-	1	2	OR10J3	157551010	0.005000	0.15991	0.896000	0.35187	0.018000	0.09664	-0.070000	0.11523	0.390000	0.25115	-0.405000	0.06341	CGG		0.453	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			85	128	0	0	0	1	0	85	128				
SMCR8	140775	broad.mit.edu	37	17	18226218	18226218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18226218G>A	ENST00000406438.3	+	2	3128	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	RP1-178F10.3_ENST00000577764.1_lincRNA	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	883						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGCCAGCCGCCAGATGAGC	0.577																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2647-2649)cGc>cAc		Smith-Magenis syndrome chromosome region, candidate 8							60.0	65.0	63.0					17																	18226218		2045	4196	6241	SO:0001583	missense	140775							g.chr17:18226218G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2648G>A	17.37:g.18226218G>A	ENSP00000385025:p.Arg883His						p.R883H	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			2	3128	+			883					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.2648G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199078	0.79015	.	.	ENSG00000176994	ENST00000406438	T	0.29397	1.57	5.2	5.2	0.72013	.	0.000000	0.64402	U	0.000014	T	0.53077	0.1774	L	0.54323	1.7	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.52223	-0.8604	10	0.59425	D	0.04	-8.9022	18.7164	0.91677	0.0:0.0:1.0:0.0	.	883	Q8TEV9	SMCR8_HUMAN	H	883	ENSP00000385025:R883H	ENSP00000385025:R883H	R	+	2	0	SMCR8	18166943	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	8.306000	0.89962	2.606000	0.88127	0.563000	0.77884	CGC		0.577	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		16	24	0	0	0	1	0	16	24				
TLR3	7098	broad.mit.edu	37	4	187005136	187005136	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005136G>T	ENST00000296795.3	+	4	2400	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	TLR3_ENST00000504367.1_Missense_Mutation_p.D489Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	766	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCTATAAAGATAAGGATTG	0.368																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2296-2298)Gat>Tat		toll-like receptor 3							86.0	92.0	90.0					4																	187005136		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187005136G>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2296G>T	4.37:g.187005136G>T	ENSP00000296795:p.Asp766Tyr					TLR3_ENST00000504367.1_Missense_Mutation_p.D489Y	p.D766Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	2400	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	766			TIR.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.2296G>T	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290918	0.40494	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.08546	3.08;3.08	5.87	5.87	0.94306	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57015	-0.7883	10	0.87932	D	0	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	766	O15455	TLR3_HUMAN	Y	766;766;489	ENSP00000296795:D766Y;ENSP00000423684:D489Y	ENSP00000296795:D766Y	D	+	1	0	TLR3	187242130	1.000000	0.71417	0.243000	0.24186	0.049000	0.14656	7.648000	0.83479	2.778000	0.95560	0.650000	0.86243	GAT		0.368	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			51	74	1	0	1.19451e-25	1	1.58886e-25	51	74				
CYP4X1	260293	broad.mit.edu	37	1	47501531	47501531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501531G>T	ENST00000371901.3	+	5	796	c.546G>T	c.(544-546)gaG>gaT	p.E182D	CYP4X1_ENST00000538609.1_Missense_Mutation_p.E181D	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	182						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGGTCTATGAGCACATCAACT	0.483																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(544-546)gaG>gaT		cytochrome P450, family 4, subfamily X, polypeptide 1							120.0	99.0	106.0					1																	47501531		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47501531G>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.546G>T	1.37:g.47501531G>T	ENSP00000360968:p.Glu182Asp					CYP4X1_ENST00000538609.1_Missense_Mutation_p.E181D	p.E182D	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			5	796	+			182					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.546G>T	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722251	0.30503	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.68479	-0.33;-0.33	5.91	0.0339	0.14181	.	0.172705	0.50627	N	0.000114	T	0.45196	0.1330	N	0.25201	0.72	0.30550	N	0.765546	B;B	0.20780	0.016;0.048	B;B	0.18263	0.021;0.021	T	0.33828	-0.9853	10	0.45353	T	0.12	.	5.9566	0.19277	0.299:0.3591:0.3419:0.0	.	182;181	Q8N118;G3V1U1	CP4X1_HUMAN;.	D	181;182	ENSP00000445965:E181D;ENSP00000360968:E182D	ENSP00000360968:E182D	E	+	3	2	CYP4X1	47274118	0.011000	0.17503	0.891000	0.34965	0.413000	0.31143	-0.254000	0.08781	0.153000	0.19213	-0.282000	0.10007	GAG		0.483	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		20	28	1	0	8.04996e-18	1	1.04647e-17	20	28				
TRAPPC12	51112	broad.mit.edu	37	2	3469442	3469442	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3469442C>T	ENST00000324266.5	+	9	1947	c.1752C>T	c.(1750-1752)agC>agT	p.S584S	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Silent_p.S584S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	584					vesicle-mediated transport (GO:0016192)												AGCTGCTCAGCGGCATCGGCC	0.522																																						ENST00000324266.5																			0											c.(1750-1752)agC>agT		trafficking protein particle complex 12							94.0	95.0	95.0					2																	3469442		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3469442C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1752C>T	2.37:g.3469442C>T						TRAPPC12_ENST00000382110.2_Silent_p.S584S|TRAPPC12_ENST00000469147.1_3'UTR	p.S584S	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			9	1947	+			584					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.1752C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638557	0.29157	.	.	ENSG00000171853	ENST00000433382	.	.	.	5.65	-4.26	0.03755	.	.	.	.	.	T	0.63474	0.2514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63409	-0.6644	4	.	.	.	.	14.7177	0.69284	0.0:0.2605:0.0:0.7395	.	.	.	.	W	130	.	.	R	+	1	2	TTC15	3448449	0.063000	0.20901	0.472000	0.27241	0.987000	0.75469	-0.760000	0.04756	-0.804000	0.04410	0.655000	0.94253	CGG		0.522	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		9	67	0	0	0	1	0	9	67				
PAQR9	344838	broad.mit.edu	37	3	142681702	142681702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142681702C>T	ENST00000340634.3	-	1	476	c.477G>A	c.(475-477)gcG>gcA	p.A159A	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGCTGATGGACGCGTAGTCCA	0.612																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(475-477)gcG>gcA		progestin and adipoQ receptor family member IX							40.0	37.0	38.0					3																	142681702		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681702C>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.477G>A	3.37:g.142681702C>T							p.A159A	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	476	-			159					Q147T6	Silent	SNP	ENST00000340634.3	37	c.477G>A	CCDS3128.1																																																																																				0.612	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		6	11	0	0	0	1	0	6	11				
OR6C1	390321	broad.mit.edu	37	12	55715121	55715121	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55715121C>A	ENST00000379668.2	+	1	776	c.738C>A	c.(736-738)gtC>gtA	p.V246V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	246			V -> I (in dbSNP:rs7132916). {ECO:0000269|PubMed:12213199}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGGTTGTTGTCTCCATCTCTT	0.403																																						ENST00000379668.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(736-738)gtC>gtA		olfactory receptor, family 6, subfamily C, member 1							111.0	103.0	106.0					12																	55715121		2203	4300	6503	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715121C>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.738C>A	12.37:g.55715121C>A							p.V246V	NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN			1	776	+			246		V -> I (in dbSNP:rs7132916).			B2RNM0	Silent	SNP	ENST00000379668.2	37	c.738C>A	CCDS31818.1																																																																																				0.403	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		33	50	1	0	2.54651e-27	1	3.39717e-27	33	50				
GK5	256356	broad.mit.edu	37	3	141901842	141901842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141901842C>A	ENST00000392993.2	-	10	1017	c.866G>T	c.(865-867)gGt>gTt	p.G289V		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	289					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTTCACATCACCTGTCTGGAA	0.413																																						ENST00000392993.2																			0				kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						c.(865-867)gGt>gTt		glycerol kinase 5 (putative)							89.0	84.0	86.0					3																	141901842		2203	4300	6503	SO:0001583	missense	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141901842C>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.866G>T	3.37:g.141901842C>A	ENSP00000418001:p.Gly289Val						p.G289V	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN			10	1017	-			289					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	c.866G>T	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880769	0.91740	.	.	ENSG00000175066	ENST00000392993	D	0.93811	-3.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99490	1.0950	10	0.87932	D	0	-15.9278	18.5977	0.91235	0.0:1.0:0.0:0.0	.	289	Q6ZS86	GLPK5_HUMAN	V	289	ENSP00000418001:G289V	ENSP00000418001:G289V	G	-	2	0	GK5	143384532	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	6.836000	0.75349	2.676000	0.91093	0.655000	0.94253	GGT		0.413	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		5	69	1	0	0.184627	1	0.186383	5	69				
OR13G1	441933	broad.mit.edu	37	1	247836050	247836050	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836050G>T	ENST00000359688.2	-	1	315	c.294C>A	c.(292-294)ctC>ctA	p.L98L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGAACAAGAAGAGCTGGGACA	0.468																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(292-294)ctC>ctA		olfactory receptor, family 13, subfamily G, member 1							82.0	67.0	72.0					1																	247836050		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836050G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.294C>A	1.37:g.247836050G>T						RP11-634B7.4_ENST00000449298.1_RNA	p.L98L	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	315	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		98					B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.294C>A	CCDS31094.1																																																																																				0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		16	19	1	0	2.32078e-09	1	2.82054e-09	16	19				
NOTCH1	4851	broad.mit.edu	37	9	139395022	139395022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139395022G>A	ENST00000277541.6	-	31	5991	c.5916C>T	c.(5914-5916)gaC>gaT	p.D1972D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1972					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACCTTGTGCGTCGGCAGACA	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5914-5916)gaC>gaT		notch 1							52.0	64.0	60.0					9																	139395022		2187	4288	6475	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395022G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5916C>T	9.37:g.139395022G>A		HNSCC(8;0.001)					p.D1972D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5991	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1972					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5916C>T	CCDS43905.1																																																																																				0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		36	59	0	0	0	1	0	36	59				
FEM1C	56929	broad.mit.edu	37	5	114860793	114860793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114860793G>A	ENST00000274457.3	-	3	1627	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	356					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTGATGCATCGTTTGAAATTT	0.403																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1066-1068)Cga>Tga		fem-1 homolog c (C. elegans)							102.0	100.0	101.0					5																	114860793		2202	4300	6502	SO:0001587	stop_gained	56929					cytoplasm		g.chr5:114860793G>A		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1066C>T	5.37:g.114860793G>A	ENSP00000274457:p.Arg356*						p.R356*	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	3	1627	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	356					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Nonsense_Mutation	SNP	ENST00000274457.3	37	c.1066C>T	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	G	40	8.405317	0.98796	.	.	ENSG00000145780	ENST00000274457	.	.	.	5.55	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-9.2029	14.7444	0.69480	0.0:0.0:0.7128:0.2872	.	.	.	.	X	356	.	ENSP00000274457:R356X	R	-	1	2	FEM1C	114888692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.807000	0.47955	1.255000	0.44051	0.655000	0.94253	CGA		0.403	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		52	84	0	0	0	1	0	52	84				
PI4KA	5297	broad.mit.edu	37	22	21083711	21083711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21083711G>A	ENST00000572273.1	-	39	4628	c.4398C>T	c.(4396-4398)agC>agT	p.S1466S	PI4KA_ENST00000414196.3_Silent_p.S276S|PI4KA_ENST00000255882.6_Silent_p.S1524S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1466					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTGGCCACGCTGTTCTCTC	0.562																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4570-4572)agC>agT		phosphatidylinositol 4-kinase, catalytic, alpha							132.0	97.0	109.0					22																	21083711		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21083711G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4398C>T	22.37:g.21083711G>A						PI4KA_ENST00000572273.1_Silent_p.S1466S|PI4KA_ENST00000414196.3_Silent_p.S276S	p.S1524S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		39	4658	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1466					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.4572C>T																																																																																					0.562	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		8	13	0	0	0	1	0	8	13				
VCP	7415	broad.mit.edu	37	9	35068295	35068295	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35068295C>G	ENST00000358901.6	-	2	977	c.82G>C	c.(82-84)Gtt>Ctt	p.V28L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	28					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTCATCAACAATTAACCGA	0.453																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(82-84)Gtt>Ctt		valosin containing protein							359.0	326.0	337.0					9																	35068295		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35068295C>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.82G>C	9.37:g.35068295C>G	ENSP00000351777:p.Val28Leu						p.V28L	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	977	-			28					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.82G>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403137	0.83230	.	.	ENSG00000165280	ENST00000358901	D	0.90385	-2.66	6.06	6.06	0.98353	ATPase, AAA-type, VAT, N-terminal (1);Aspartate decarboxylase-like fold (2);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	H	0.95043	3.615	0.80722	D	1	P	0.36086	0.536	B	0.41619	0.361	D	0.95118	0.8244	10	0.87932	D	0	-15.847	18.8014	0.92018	0.0:1.0:0.0:0.0	.	28	P55072	TERA_HUMAN	L	28	ENSP00000351777:V28L	ENSP00000351777:V28L	V	-	1	0	VCP	35058295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.703000	0.84585	2.882000	0.98803	0.655000	0.94253	GTT		0.453	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		20	342	0	0	0	1	0	20	342				
CDH11	1009	broad.mit.edu	37	16	65038691	65038691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65038691G>A	ENST00000268603.4	-	3	697	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	CDH11_ENST00000394156.3_Missense_Mutation_p.R28W|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	28					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGTGCCCCCGCCGCTCTGGG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(82-84)Cgg>Tgg		cadherin 11, type 2, OB-cadherin (osteoblast)							19.0	21.0	20.0					16																	65038691		2202	4299	6501	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038691G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.82C>T	16.37:g.65038691G>A	ENSP00000268603:p.Arg28Trp	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.R28W|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron	p.R28W			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	535	-		Ovarian(137;0.0973)	28					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.82C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362303	0.24684	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56776	0.44;0.44	5.74	2.59	0.31030	.	0.599326	0.16339	N	0.218757	T	0.44222	0.1283	L	0.29908	0.895	0.54753	D	0.999987	D;P	0.60160	0.987;0.951	P;B	0.47705	0.555;0.394	T	0.38265	-0.9669	10	0.72032	D	0.01	.	8.4035	0.32601	0.0705:0.0:0.4985:0.431	.	28;28	P55287-2;P55287	.;CAD11_HUMAN	W	28	ENSP00000268603:R28W;ENSP00000377711:R28W	ENSP00000268603:R28W	R	-	1	2	CDH11	63596192	0.009000	0.17119	0.999000	0.59377	0.568000	0.35870	0.495000	0.22483	0.696000	0.31696	0.591000	0.81541	CGG		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		3	4	0	0	0	1	0	3	4				
OAF	220323	broad.mit.edu	37	11	120099605	120099605	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120099605G>A	ENST00000328965.4	+	4	1089	c.576G>A	c.(574-576)ctG>ctA	p.L192L	OAF_ENST00000531220.1_Silent_p.L76L	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	192						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCGAGGCTCTGCCCAAGGCCT	0.677																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(574-576)ctG>ctA		OAF homolog (Drosophila)							34.0	31.0	32.0					11																	120099605		2203	4298	6501	SO:0001819	synonymous_variant	220323							g.chr11:120099605G>A	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.576G>A	11.37:g.120099605G>A						OAF_ENST00000531220.1_Silent_p.L76L	p.L192L	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	4	1089	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	192						Silent	SNP	ENST00000328965.4	37	c.576G>A	CCDS8430.1																																																																																				0.677	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		11	20	0	0	0	1	0	11	20				
CLEC4F	165530	broad.mit.edu	37	2	71043260	71043260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71043260C>A	ENST00000272367.2	-	4	1329	c.1253G>T	c.(1252-1254)aGt>aTt	p.S418I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S418I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	418					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATCTCGGCACTGGCCTTCTG	0.498																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1252-1254)aGt>aTt		C-type lectin domain family 4, member F							135.0	121.0	126.0					2																	71043260		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043260C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1253G>T	2.37:g.71043260C>A	ENSP00000272367:p.Ser418Ile					CLEC4F_ENST00000426626.1_Missense_Mutation_p.S418I	p.S418I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	1329	-			418					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1253G>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582306	0.46006	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.78246	-1.16;-1.16	3.79	-3.5	0.04710	.	1.350210	0.04954	N	0.460862	T	0.77883	0.4197	M	0.61703	1.905	0.09310	N	1	D;D	0.62365	0.976;0.991	P;P	0.48873	0.454;0.593	T	0.71328	-0.4626	10	0.54805	T	0.06	.	9.2367	0.37470	0.0:0.2986:0.0:0.7014	.	418;418	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	I	418	ENSP00000272367:S418I;ENSP00000390581:S418I	ENSP00000272367:S418I	S	-	2	0	CLEC4F	70896768	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-1.441000	0.02409	-0.702000	0.05056	0.467000	0.42956	AGT		0.498	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		4	46	1	0	1	1	1	4	46				
ATP2B3	492	broad.mit.edu	37	X	152827665	152827665	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152827665C>A	ENST00000349466.2	+	19	3450	c.3124C>A	c.(3124-3126)Ctg>Atg	p.L1042M	ATP2B3_ENST00000359149.3_Missense_Mutation_p.L1042M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L1042M|ATP2B3_ENST00000370186.1_Missense_Mutation_p.L1028M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L1028M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L1028M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1042					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGTGCCTGTTTGTTGG	0.587																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3082-3084)Ctg>Atg		ATPase, Ca++ transporting, plasma membrane 3							160.0	129.0	140.0					X																	152827665		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152827665C>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3124C>A	X.37:g.152827665C>A	ENSP00000343886:p.Leu1042Met					ATP2B3_ENST00000370181.2_Missense_Mutation_p.L1028M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L1042M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L1028M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L1042M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L1042M	p.L1028M			Q16720	AT2B3_HUMAN			18	3408	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1042					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3082C>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583063	0.46006	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	4.91	4.91	0.64330	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.98112	0.9377	M	0.78285	2.405	0.44149	D	0.996949	D;P;B	0.67145	0.996;0.634;0.113	D;P;B	0.65010	0.931;0.476;0.159	D	0.99222	1.0879	10	0.87932	D	0	-13.5247	16.1072	0.81234	0.0:1.0:0.0:0.0	.	1028;1042;1042	Q16720-3;Q16720;Q16720-2	.;AT2B3_HUMAN;.	M	1028;1042;1028;1042;1042;1028	ENSP00000359205:L1028M;ENSP00000343886:L1042M;ENSP00000377425:L1028M;ENSP00000352062:L1042M;ENSP00000263519:L1042M;ENSP00000359200:L1028M	ENSP00000263519:L1042M	L	+	1	2	ATP2B3	152480859	0.835000	0.29415	1.000000	0.80357	0.998000	0.95712	0.770000	0.26618	2.053000	0.61076	0.529000	0.55759	CTG		0.587	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		68	80	1	0	2.18329e-32	1	2.92945e-32	68	80				
CCL11	6356	broad.mit.edu	37	17	32614187	32614187	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32614187G>T	ENST00000305869.3	+	2	290	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	50					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAGAGCTACAGGAGAATCACC	0.443																																						ENST00000305869.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(148-150)aGg>aTg		chemokine (C-C motif) ligand 11							83.0	86.0	85.0					17																	32614187		2203	4300	6503	SO:0001583	missense	6356				cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity	g.chr17:32614187G>T	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.149G>T	17.37:g.32614187G>T	ENSP00000302234:p.Arg50Met						p.R50M	NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	290	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	50					P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	c.149G>T	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	G	6.580	0.475395	0.12521	.	.	ENSG00000172156	ENST00000305869	T	0.05717	3.4	4.49	-7.4	0.01397	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.837888	0.10340	N	0.686465	T	0.03608	0.0103	.	.	.	0.09310	N	1	P	0.37276	0.589	B	0.38921	0.285	T	0.17167	-1.0378	9	0.45353	T	0.12	.	0.2556	0.00211	0.3476:0.2301:0.1894:0.2328	.	50	P51671	CCL11_HUMAN	M	50	ENSP00000302234:R50M	ENSP00000302234:R50M	R	+	2	0	CCL11	29638300	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.127000	0.03251	-1.560000	0.01686	-0.345000	0.07892	AGG		0.443	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		5	38	1	0	0.184627	1	0.186383	5	38				
MAVS	57506	broad.mit.edu	37	20	3835383	3835383	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3835383G>A	ENST00000428216.2	+	2	240	c.112G>A	c.(112-114)Gac>Aac	p.D38N	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Missense_Mutation_p.D38N	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	38	CARD.|Required for interaction with NLRX1.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACAGCAAGAGACCAGGTGAG	0.527																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(112-114)Gac>Aac		mitochondrial antiviral signaling protein							108.0	90.0	96.0					20																	3835383		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3835383G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.112G>A	20.37:g.3835383G>A	ENSP00000401980:p.Asp38Asn					MAVS_ENST00000358134.6_Missense_Mutation_p.D38N|MAVS_ENST00000416600.2_5'UTR	p.D38N	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			2	240	+			38			CARD.|Required for interaction with NLRX1.		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.112G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	g	26.0	4.692388	0.88735	.	.	ENSG00000088888	ENST00000428216;ENST00000356687;ENST00000358134	T;T	0.11930	2.73;2.73	5.24	5.24	0.73138	.	0.127647	0.47455	D	0.000222	T	0.39759	0.1090	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.999	T	0.21109	-1.0255	10	0.87932	D	0	-39.195	14.2058	0.65732	0.0:0.0:1.0:0.0	.	38;38;38	B2BD34;Q7Z434;Q7Z434-2	.;MAVS_HUMAN;.	N	38	ENSP00000401980:D38N;ENSP00000350852:D38N	ENSP00000349115:D38N	D	+	1	0	MAVS	3783383	1.000000	0.71417	0.968000	0.41197	0.956000	0.61745	4.235000	0.58666	2.740000	0.93945	0.557000	0.71058	GAC		0.527	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		18	26	0	0	0	1	0	18	26				
BIN3	55909	broad.mit.edu	37	8	22481832	22481832	+	Missense_Mutation	SNP	C	C	T	rs370278385		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22481832C>T	ENST00000276416.6	-	7	451	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	BIN3_ENST00000519513.1_Missense_Mutation_p.R74Q|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.R80Q	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	128	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGTTCCCGCCTCTTCAC	0.607																																						ENST00000276416.6																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9						c.(382-384)cGg>cAg		bridging integrator 3		C	GLN/ARG	0,3964		0,0,1982	46.0	54.0	51.0		383	5.4	1.0	8		51	2,8298		0,2,4148	no	missense	BIN3	NM_018688.4	43	0,2,6130	TT,TC,CC		0.0241,0.0,0.0163	probably-damaging	128/254	22481832	2,12262	1982	4150	6132	SO:0001583	missense	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22481832C>T		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.383G>A	8.37:g.22481832C>T	ENSP00000276416:p.Arg128Gln					BIN3_ENST00000519513.1_Missense_Mutation_p.R74Q|BIN3_ENST00000399977.4_Missense_Mutation_p.R80Q|BIN3_ENST00000519335.1_5'UTR	p.R128Q	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	7	451	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	128			BAR.		Q9BVG2|Q9NVY9	Missense_Mutation	SNP	ENST00000276416.6	37	c.383G>A	CCDS47825.1	.	.	.	.	.	.	.	.	.	.	C	37	5.990788	0.97179	0.0	2.41E-4	ENSG00000147439	ENST00000276416;ENST00000519513;ENST00000399977	T;T;T	0.71103	-0.54;-0.54;-0.54	5.4	5.4	0.78164	BAR (3);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.964;0.983	D	0.86086	0.1547	10	0.87932	D	0	-33.6662	16.6873	0.85312	0.0:1.0:0.0:0.0	.	128;128	Q9NQY0;Q53HW0	BIN3_HUMAN;.	Q	128;74;80	ENSP00000276416:R128Q;ENSP00000430423:R74Q;ENSP00000382859:R80Q	ENSP00000276416:R128Q	R	-	2	0	BIN3	22537777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.704000	0.84595	2.536000	0.85505	0.561000	0.74099	CGG		0.607	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			9	33	0	0	0	1	0	9	33				
OSTN	344901	broad.mit.edu	37	3	190967869	190967869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190967869G>A	ENST00000339051.1	+	3	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	121					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TATCCCCATGGATCGGATTGG	0.353																																						ENST00000339051.1																			0				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13						c.(361-363)Gat>Aat		osteocrin							120.0	124.0	123.0					3																	190967869		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190967869G>A	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.361G>A	3.37:g.190967869G>A	ENSP00000342356:p.Asp121Asn					OSTN_ENST00000445281.1_Intron	p.D121N	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	3	361	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		121					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.361G>A	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633743	0.87660	.	.	ENSG00000188729	ENST00000339051	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	M	0.61703	1.905	0.46437	D	0.999044	D	0.89917	1.0	D	0.91635	0.999	T	0.78481	-0.2187	9	0.87932	D	0	-41.7213	14.9373	0.70967	0.0:0.0:1.0:0.0	.	121	P61366	OSTN_HUMAN	N	121	.	ENSP00000342356:D121N	D	+	1	0	OSTN	192450563	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	4.724000	0.61972	2.601000	0.87937	0.655000	0.94253	GAT		0.353	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		37	58	0	0	0	1	0	37	58				
OR51F2	119694	broad.mit.edu	37	11	4843361	4843361	+	Missense_Mutation	SNP	G	G	A	rs565104047		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4843361G>A	ENST00000322110.5	+	1	811	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAGAGGCGGAAAGCCTTC	0.502																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(745-747)cGg>cAg		olfactory receptor, family 51, subfamily F, member 2							227.0	164.0	185.0					11																	4843361		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843361G>A	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.746G>A	11.37:g.4843361G>A	ENSP00000323952:p.Arg249Gln					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.R249Q	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	811	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	249					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.746G>A	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	1.498	-0.552723	0.03996	.	.	ENSG00000176925	ENST00000322110	T	0.00130	8.69	4.61	-4.01	0.04045	GPCR, rhodopsin-like superfamily (1);	1.160310	0.06780	N	0.785103	T	0.00073	0.0002	N	0.05467	-0.045	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.01504	-1.1338	10	0.29301	T	0.29	.	5.107	0.14789	0.4037:0.0:0.3685:0.2278	.	249	Q8NH61	O51F2_HUMAN	Q	249	ENSP00000323952:R249Q	ENSP00000323952:R249Q	R	+	2	0	OR51F2	4799937	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	-0.044000	0.12023	-0.897000	0.03910	-1.434000	0.01081	CGG		0.502	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		24	38	0	0	0	1	0	24	38				
HERC4	26091	broad.mit.edu	37	10	69804316	69804316	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69804316C>G	ENST00000395198.3	-	4	478	c.231G>C	c.(229-231)caG>caC	p.Q77H	HERC4_ENST00000412272.2_Missense_Mutation_p.Q77H|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000373700.4_Missense_Mutation_p.Q77H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	77					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GGGCAACAACCTGCTCTACAG	0.393																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(229-231)caG>caC		HECT and RLD domain containing E3 ubiquitin protein ligase 4							131.0	114.0	120.0					10																	69804316		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69804316C>G	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.231G>C	10.37:g.69804316C>G	ENSP00000378624:p.Gln77His					HERC4_ENST00000373700.4_Missense_Mutation_p.Q77H|HERC4_ENST00000412272.2_Missense_Mutation_p.Q77H|HERC4_ENST00000395187.2_Intron	p.Q77H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			4	478	-			77					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.231G>C	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898462	0.17686	.	.	ENSG00000148634	ENST00000412272;ENST00000395198;ENST00000373700;ENST00000513996	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.39	5.39	0.77823	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.110135	0.64402	D	0.000006	T	0.77075	0.4077	L	0.33710	1.025	0.80722	D	1	B;B;B;B	0.13594	0.002;0.008;0.002;0.003	B;B;B;B	0.18263	0.004;0.021;0.007;0.013	T	0.70332	-0.4901	9	.	.	.	.	12.06	0.53557	0.1341:0.7365:0.1294:0.0	.	77;77;77;77	Q5GLZ8-3;A8K9U4;Q5GLZ8-2;Q5GLZ8	.;.;.;HERC4_HUMAN	H	77	ENSP00000416504:Q77H;ENSP00000378624:Q77H;ENSP00000362804:Q77H;ENSP00000427191:Q77H	.	Q	-	3	2	HERC4	69474322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.308000	0.33528	2.526000	0.85167	0.591000	0.81541	CAG		0.393	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		9	90	0	0	0	1	0	9	90				
ULK2	9706	broad.mit.edu	37	17	19708066	19708066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19708066C>T	ENST00000395544.4	-	15	1734	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ULK2_ENST00000361658.2_Missense_Mutation_p.R412H|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	412					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGCTCTATGCGCTGATAATT	0.403																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1234-1236)cGc>cAc		unc-51 like autophagy activating kinase 2							215.0	187.0	196.0					17																	19708066		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19708066C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1235G>A	17.37:g.19708066C>T	ENSP00000378914:p.Arg412His					ULK2_ENST00000361658.2_Missense_Mutation_p.R412H|ULK2_ENST00000580130.1_5'UTR	p.R412H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			15	1734	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		412					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1235G>A	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358511	0.95854	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.75938	-0.98;-0.98	5.16	5.16	0.70880	.	0.052019	0.85682	D	0.000000	D	0.86159	0.5866	M	0.74881	2.28	0.54753	D	0.999989	D	0.89917	1.0	D	0.78314	0.991	D	0.87628	0.2514	10	0.87932	D	0	-4.3135	18.0677	0.89396	0.0:1.0:0.0:0.0	.	412	Q8IYT8	ULK2_HUMAN	H	412	ENSP00000354877:R412H;ENSP00000378914:R412H	ENSP00000354877:R412H	R	-	2	0	ULK2	19648658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.378000	0.66190	2.580000	0.87095	0.552000	0.68991	CGC		0.403	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		33	34	0	0	0	1	0	33	34				
DDX46	9879	broad.mit.edu	37	5	134124246	134124246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134124246C>A	ENST00000354283.4	+	12	1643	c.1508C>A	c.(1507-1509)cCt>cAt	p.P503H	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000452510.2_Missense_Mutation_p.P503H			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	503	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGCACACCTGGTCGAATG	0.308																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1507-1509)cCt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							170.0	168.0	169.0					5																	134124246		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134124246C>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1508C>A	5.37:g.134124246C>A	ENSP00000346236:p.Pro503His					DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Missense_Mutation_p.P503H	p.P503H	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		12	1666	+			503			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1508C>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205772	0.79127	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.80123	-1.34;-1.34	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.098275	0.64402	D	0.000001	D	0.94291	0.8166	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95672	0.8724	10	0.87932	D	0	-15.3324	20.2989	0.98608	0.0:1.0:0.0:0.0	.	503	Q7L014	DDX46_HUMAN	H	503	ENSP00000416534:P503H;ENSP00000346236:P503H	ENSP00000346236:P503H	P	+	2	0	DDX46	134152145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.794000	0.96219	0.573000	0.79308	CCT		0.308	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		14	129	1	0	1.05317e-09	1	1.28483e-09	14	129				
GRID2	2895	broad.mit.edu	37	4	94032058	94032058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94032058C>T	ENST00000282020.4	+	4	947	c.689C>T	c.(688-690)gCg>gTg	p.A230V	GRID2_ENST00000510992.1_Missense_Mutation_p.A135V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	230					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTAGGCGAGCGATCCTTGTT	0.388																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(688-690)gCg>gTg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						123.0	117.0	119.0					4																	94032058		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94032058C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.689C>T	4.37:g.94032058C>T	ENSP00000282020:p.Ala230Val					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.A135V	p.A230V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	4	947	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	230					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.689C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213864	0.79352	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.76709	-1.04;-1.04	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.989;0.989;0.992	T	0.75144	-0.3421	10	0.02654	T	1	.	19.7485	0.96259	0.0:1.0:0.0:0.0	.	135;230;171	E9PH24;O43424;B4DYB9	.;GRID2_HUMAN;.	V	230;135	ENSP00000282020:A230V;ENSP00000421257:A135V	ENSP00000282020:A230V	A	+	2	0	GRID2	94251081	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.442000	0.80503	2.742000	0.94016	0.655000	0.94253	GCG		0.388	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			32	77	0	0	0	1	0	32	77				
OSBP2	23762	broad.mit.edu	37	22	31286763	31286763	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286763C>A	ENST00000332585.6	+	8	1776	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	OSBP2_ENST00000403222.3_Missense_Mutation_p.L392M|OSBP2_ENST00000535268.1_Missense_Mutation_p.L102M|OSBP2_ENST00000382310.3_Missense_Mutation_p.L509M|OSBP2_ENST00000401475.1_Missense_Mutation_p.L191M|OSBP2_ENST00000437268.2_Missense_Mutation_p.L300M|OSBP2_ENST00000446658.2_Missense_Mutation_p.L557M|OSBP2_ENST00000407373.1_Missense_Mutation_p.L385M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	558					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GACAGAGGACCTGGAGTACCA	0.627											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1672-1674)Ctg>Atg		oxysterol binding protein 2							55.0	60.0	58.0					22																	31286763		2134	4250	6384	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31286763C>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1672C>A	22.37:g.31286763C>A	ENSP00000332576:p.Leu558Met		OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	OSBP2_ENST00000382310.3_Missense_Mutation_p.L509M|OSBP2_ENST00000403222.3_Missense_Mutation_p.L392M|OSBP2_ENST00000446658.2_Missense_Mutation_p.L557M|OSBP2_ENST00000407373.1_Missense_Mutation_p.L385M|OSBP2_ENST00000401475.1_Missense_Mutation_p.L191M|OSBP2_ENST00000535268.1_Missense_Mutation_p.L102M|OSBP2_ENST00000437268.2_Missense_Mutation_p.L300M	p.L558M	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			8	1776	+			558					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1672C>A	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531461	0.64972	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.87	2.74	0.32292	.	0.000000	0.64402	D	0.000001	T	0.39172	0.1068	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D;D	0.65815	0.994;0.968;0.995;0.995;0.995;0.995;0.995	D;D;D;D;D;D;D	0.70016	0.925;0.911;0.967;0.955;0.967;0.951;0.951	T	0.18650	-1.0330	10	0.14656	T	0.56	-24.5992	8.0156	0.30379	0.0:0.6814:0.0:0.3186	.	300;509;392;300;385;557;558	F5H2A3;B4DFA8;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;.;OSBP2_HUMAN	M	392;385;558;509;557;191;300;102;189	ENSP00000384213:L392M;ENSP00000385237:L385M;ENSP00000332576:L558M;ENSP00000371747:L509M;ENSP00000392080:L557M;ENSP00000385254:L191M;ENSP00000389200:L300M;ENSP00000438713:L102M;ENSP00000409838:L189M	ENSP00000332576:L558M	L	+	1	2	OSBP2	29616763	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.864000	0.27926	1.276000	0.44395	0.655000	0.94253	CTG		0.627	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		9	20	1	0	0.307466	1	0.308846	9	20				
MKI67	4288	broad.mit.edu	37	10	129901141	129901141	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901141T>C	ENST00000368654.3	-	13	9338	c.8963A>G	c.(8962-8964)aAc>aGc	p.N2988S	MKI67_ENST00000368653.3_Missense_Mutation_p.N2628S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2988					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGGAAGTGTTGCTTTTGCT	0.532																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8962-8964)aAc>aGc		marker of proliferation Ki-67							92.0	83.0	86.0					10																	129901141		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901141T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8963A>G	10.37:g.129901141T>C	ENSP00000357643:p.Asn2988Ser					MKI67_ENST00000368653.3_Missense_Mutation_p.N2628S	p.N2988S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9338	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2988					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8963A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	9.583	1.124011	0.20959	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01304	5.07;5.03	3.23	0.636	0.17729	.	0.910513	0.09161	N	0.840260	T	0.00967	0.0032	L	0.27053	0.805	0.09310	N	1	B;B;P	0.47409	0.376;0.05;0.895	B;B;B	0.37989	0.058;0.069;0.262	T	0.40194	-0.9576	10	0.09338	T	0.73	.	4.8613	0.13585	0.0:0.3929:0.0:0.6071	.	2987;2628;2988	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	2988;2628;2987	ENSP00000357643:N2988S;ENSP00000357642:N2628S	ENSP00000357642:N2628S	N	-	2	0	MKI67	129791131	0.005000	0.15991	0.001000	0.08648	0.132000	0.20833	0.978000	0.29488	0.066000	0.16515	0.459000	0.35465	AAC		0.532	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		14	98	0	0	0	1	0	14	98				
PNPLA6	10908	broad.mit.edu	37	19	7622065	7622065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7622065C>T	ENST00000221249.6	+	30	3609	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1098W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1108W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1060W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1033W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1099	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCCTGTGGCGGTACGTGCG	0.667																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3178-3180)Cgg>Tgg		patatin-like phospholipase domain containing 6							57.0	54.0	55.0					19																	7622065		2203	4298	6501	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7622065C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3178C>T	19.37:g.7622065C>T	ENSP00000221249:p.Arg1060Trp					PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1108W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1098W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1033W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1060W	p.R1060W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			30	3609	+			1099			Patatin.		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3178C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.983865	0.74474	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	3.93	3.93	0.45458	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.071500	0.64402	D	0.000020	T	0.54255	0.1847	M	0.92604	3.325	0.58432	D	0.999999	P;P;P;D	0.63046	0.948;0.935;0.935;0.992	P;P;P;P	0.50825	0.597;0.462;0.462;0.651	T	0.64812	-0.6319	10	0.66056	D	0.02	.	8.8542	0.35219	0.2234:0.7766:0.0:0.0	.	1099;1033;1098;1060	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	W	1060;1033;1108;1060	ENSP00000221249:R1060W;ENSP00000443323:R1033W;ENSP00000407509:R1108W;ENSP00000394348:R1060W	ENSP00000221249:R1060W	R	+	1	2	PNPLA6	7528065	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.056000	0.49923	2.036000	0.60181	0.305000	0.20034	CGG		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		13	28	0	0	0	1	0	13	28				
PLEC	5339	broad.mit.edu	37	8	145004373	145004373	+	Missense_Mutation	SNP	C	C	T	rs200647397	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145004373C>T	ENST00000322810.4	-	21	3131	c.2962G>A	c.(2962-2964)Gtg>Atg	p.V988M	PLEC_ENST00000527096.1_Missense_Mutation_p.V874M|PLEC_ENST00000354589.3_Missense_Mutation_p.V851M|PLEC_ENST00000356346.3_Missense_Mutation_p.V837M|PLEC_ENST00000354958.2_Missense_Mutation_p.V829M|PLEC_ENST00000398774.2_Missense_Mutation_p.V819M|PLEC_ENST00000436759.2_Missense_Mutation_p.V878M|PLEC_ENST00000357649.2_Missense_Mutation_p.V855M|PLEC_ENST00000345136.3_Missense_Mutation_p.V851M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	988	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGAGGGCACGGCGGCCTCG	0.716													C|||	9	0.00179712	0.0053	0.0014	5008	,	,		13432	0.001		0.0	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(2962-2964)Gtg>Atg		plectin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	13,4173		0,13,2080	8.0	11.0	10.0		2632,2509,2485,2962,2455,2551,2563,2551	3.1	0.8	8		10	0,8342		0,0,4171	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	21,21,21,21,21,21,21,21	0,13,6251	TT,TC,CC		0.0,0.3106,0.1038	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	878/4575,837/4534,829/4526,988/4685,819/4516,851/4548,855/4552,851/4548	145004373	13,12515	2093	4171	6264	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145004373C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2962G>A	8.37:g.145004373C>T	ENSP00000323856:p.Val988Met					PLEC_ENST00000354589.3_Missense_Mutation_p.V851M|PLEC_ENST00000345136.3_Missense_Mutation_p.V851M|PLEC_ENST00000354958.2_Missense_Mutation_p.V829M|PLEC_ENST00000356346.3_Missense_Mutation_p.V837M|PLEC_ENST00000357649.2_Missense_Mutation_p.V855M|PLEC_ENST00000527096.1_Missense_Mutation_p.V874M|PLEC_ENST00000436759.2_Missense_Mutation_p.V878M|PLEC_ENST00000398774.2_Missense_Mutation_p.V819M	p.V988M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			21	3131	-			988			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2962G>A	CCDS43772.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.254	0.809748	0.16537	0.003106	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	4.99	3.14	0.36123	.	0.000000	0.52532	U	0.000078	T	0.78201	0.4246	M	0.81682	2.555	0.47584	D	0.99946	P;P;P;P;P;D;P;P	0.56746	0.892;0.902;0.902;0.827;0.902;0.977;0.943;0.943	B;B;B;B;B;B;B;B	0.38712	0.168;0.168;0.168;0.081;0.168;0.28;0.168;0.168	T	0.81339	-0.0977	10	0.87932	D	0	.	11.4096	0.49919	0.0:0.7579:0.159:0.0831	.	878;837;829;988;819;851;855;851	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	851;855;851;819;988;829;837;878;874	ENSP00000344848:V851M;ENSP00000350277:V855M;ENSP00000346602:V851M;ENSP00000381756:V819M;ENSP00000323856:V988M;ENSP00000347044:V829M;ENSP00000348702:V837M;ENSP00000388180:V878M;ENSP00000434583:V874M	ENSP00000323856:V988M	V	-	1	0	PLEC	145076361	0.994000	0.37717	0.801000	0.32222	0.194000	0.23727	3.108000	0.50337	1.101000	0.41535	-0.397000	0.06425	GTG		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	4	0	0	0	1	0	6	4				
MSL3P1	151507	broad.mit.edu	37	2	234775682	234775682	+	RNA	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234775682T>G	ENST00000438684.1	-	0	432					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											AAGGCTGCACTGATAGCAAAA	0.443																																						ENST00000438684.1																			0																				261.0	210.0	225.0					2																	234775682		692	1591	2283			0							g.chr2:234775682T>G	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775682T>G								NR_024322.1						0	432	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.443	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		4	42	0	0	0	1	0	4	42				
CCDC92	80212	broad.mit.edu	37	12	124421701	124421701	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124421701C>T	ENST00000238156.3	-	5	1254	c.900G>A	c.(898-900)ccG>ccA	p.P300P	RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Silent_p.P283P|CCDC92_ENST00000545891.1_Silent_p.P283P|DNAH10OS_ENST00000514254.2_5'Flank	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	300						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGGCCTGCGGCGGGGTGGCGT	0.687																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(847-849)ccG>ccA		coiled-coil domain containing 92							33.0	30.0	31.0					12																	124421701		2202	4299	6501	SO:0001819	synonymous_variant	80212							g.chr12:124421701C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.900G>A	12.37:g.124421701C>T						CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Silent_p.P300P|CCDC92_ENST00000545891.1_Silent_p.P283P	p.P283P			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	4145	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		300					B3KNQ0|Q9H697	Silent	SNP	ENST00000238156.3	37	c.849G>A	CCDS9256.1																																																																																				0.687	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		15	17	0	0	0	1	0	15	17				
PCM1	5108	broad.mit.edu	37	8	17822079	17822079	+	Missense_Mutation	SNP	C	C	T	rs371100049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17822079C>T	ENST00000519253.1	+	18	2908	c.2657C>T	c.(2656-2658)aCg>aTg	p.T886M	PCM1_ENST00000325083.8_Missense_Mutation_p.T886M|PCM1_ENST00000524226.1_Missense_Mutation_p.T887M			Q15154	PCM1_HUMAN	pericentriolar material 1	886					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCACTAGAACGATGGCAACT	0.418			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(2656-2658)aCg>aTg		pericentriolar material 1		C	MET/THR	0,3796		0,0,1898	86.0	81.0	83.0		2657	5.5	1.0	8		83	1,8243		0,1,4121	no	missense	PCM1	NM_006197.3	81	0,1,6019	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	886/2025	17822079	1,12039	1898	4122	6020	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17822079C>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2657C>T	8.37:g.17822079C>T	ENSP00000431099:p.Thr886Met					PCM1_ENST00000519253.1_Missense_Mutation_p.T886M|PCM1_ENST00000524226.1_Missense_Mutation_p.T887M	p.T886M	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	18	3096	+			886					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2657C>T		.	.	.	.	.	.	.	.	.	.	C	28.0	4.885193	0.91814	0.0	1.21E-4	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.14022	2.77;2.77;2.54	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.39384	0.1076	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.08785	-1.0705	10	0.87932	D	0	-14.733	19.769	0.96353	0.0:1.0:0.0:0.0	.	886;887;886	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	M	886;886;887	ENSP00000327077:T886M;ENSP00000431099:T886M;ENSP00000430521:T887M	ENSP00000327077:T886M	T	+	2	0	PCM1	17866359	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.967000	0.76079	2.754000	0.94517	0.650000	0.86243	ACG		0.418	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		6	15	0	0	0	1	0	6	15				
CCDC78	124093	broad.mit.edu	37	16	774778	774778	+	Missense_Mutation	SNP	C	C	T	rs373278585		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:774778C>T	ENST00000293889.6	-	8	773	c.668G>A	c.(667-669)cGt>cAt	p.R223H	HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	223					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTGCCTGACGGAGCTGGCC	0.647																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(667-669)cGt>cAt		coiled-coil domain containing 78			HIS/ARG	2,4376	4.2+/-10.8	0,2,2187	24.0	25.0	25.0		668	-0.6	1.0	16		25	0,8578		0,0,4289	no	missense	CCDC78	NM_001031737.2	29	0,2,6476	TT,TC,CC		0.0,0.0457,0.0154	benign	223/439	774778	2,12954	2189	4289	6478	SO:0001583	missense	124093							g.chr16:774778C>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.668G>A	16.37:g.774778C>T	ENSP00000293889:p.Arg223His						p.R223H	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			8	773	-		Hepatocellular(780;0.0218)	223					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.668G>A	CCDS32353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.94|10.94	1.492570|1.492570	0.26774|0.26774	4.57E-4|4.57E-4	0.0|0.0	ENSG00000162004|ENSG00000162004	ENST00000293889|ENST00000345165	T|.	0.31247|.	1.5|.	5.54|5.54	-0.573|-0.573	0.11742|0.11742	.|.	0.641676|.	0.15173|.	N|.	0.276501|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.25647|0.25647	0.755|0.755	0.27523|0.27523	N|N	0.951342|0.951342	B;B|.	0.17465|.	0.022;0.022|.	B;B|.	0.09377|.	0.003;0.004|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|5	0.33940|.	T|.	0.23|.	-3.4693|-3.4693	8.2659|8.2659	0.31813|0.31813	0.0:0.3557:0.0:0.6443|0.0:0.3557:0.0:0.6443	.|.	223;72|.	A2IDD5;D3DU61|.	CCD78_HUMAN;.|.	H|I	223|72	ENSP00000293889:R223H|.	ENSP00000293889:R223H|.	R|V	-|-	2|1	0|0	CCDC78|CCDC78	714779|714779	0.189000|0.189000	0.23263|0.23263	0.986000|0.986000	0.45419|0.45419	0.042000|0.042000	0.13812|0.13812	-0.307000|-0.307000	0.08167|0.08167	0.038000|0.038000	0.15604|0.15604	-0.230000|-0.230000	0.12252|0.12252	CGT|GTC		0.647	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		6	15	0	0	0	1	0	6	15				
LRRC2	79442	broad.mit.edu	37	3	46592989	46592989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46592989C>A	ENST00000395905.3	-	2	485	c.93G>T	c.(91-93)gaG>gaT	p.E31D	AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.E31D	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	31										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCCTTTCCACCTCCTTCTTCT	0.463																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(91-93)gaG>gaT		leucine rich repeat containing 2							139.0	138.0	138.0					3																	46592989		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592989C>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.93G>T	3.37:g.46592989C>A	ENSP00000379241:p.Glu31Asp					LRRC2_ENST00000296144.3_Missense_Mutation_p.E31D|LRRC2_ENST00000496388.1_Intron	p.E31D	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	485	-		Ovarian(412;0.0563)	31					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.93G>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550138	0.65311	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.23147	1.92;1.92	4.73	3.86	0.44501	.	0.090474	0.45126	D	0.000383	T	0.23094	0.0558	L	0.34521	1.04	0.45129	D	0.998147	D	0.56968	0.978	P	0.48270	0.572	T	0.02081	-1.1217	10	0.72032	D	0.01	.	7.3556	0.26717	0.0:0.807:0.0:0.193	.	31	Q9BYS8	LRRC2_HUMAN	D	31	ENSP00000379241:E31D;ENSP00000296144:E31D	ENSP00000296144:E31D	E	-	3	2	LRRC2	46567993	0.266000	0.24112	0.984000	0.44739	0.802000	0.45316	0.060000	0.14342	1.361000	0.45981	0.655000	0.94253	GAG		0.463	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			25	54	1	0	4.4004e-07	1	5.144e-07	25	54				
ROCK1	6093	broad.mit.edu	37	18	18546978	18546978	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18546978C>T	ENST00000399799.2	-	27	4192	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1084					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAATATCACTCTCTTTGCTGG	0.388																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(3250-3252)gaG>gaA		Rho-associated, coiled-coil containing protein kinase 1							174.0	155.0	161.0					18																	18546978		2203	4300	6503	SO:0001819	synonymous_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18546978C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3252G>A	18.37:g.18546978C>T							p.E1084E	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			27	4192	-	Melanoma(1;0.165)		1084					B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.3252G>A	CCDS11870.2																																																																																				0.388	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		6	125	0	0	0	1	0	6	125				
GORASP1	64689	broad.mit.edu	37	3	39142345	39142345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39142345G>A	ENST00000319283.3	-	5	1280	c.459C>T	c.(457-459)atC>atT	p.I153I	GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Silent_p.I58I|GORASP1_ENST00000476334.1_5'Flank	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	153					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATGAGACTCGATGAGCGTAA	0.542											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319283.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14						c.(457-459)atC>atT		golgi reassembly stacking protein 1, 65kDa							139.0	136.0	137.0					3																	39142345		2203	4300	6503	SO:0001819	synonymous_variant	64689				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane		g.chr3:39142345G>A	AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.459C>T	3.37:g.39142345G>A			OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	883	GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Silent_p.I58I	p.I153I	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	1280	-			153					B3KWC8|Q3SYG7|Q8N272|Q96H42	Silent	SNP	ENST00000319283.3	37	c.459C>T	CCDS2681.1																																																																																				0.542	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1			49	93	0	0	0	1	0	49	93				
PPP1R7	5510	broad.mit.edu	37	2	242102714	242102714	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242102714C>T	ENST00000234038.6	+	7	1086	c.612C>T	c.(610-612)atC>atT	p.I204I	PPP1R7_ENST00000406106.3_Silent_p.I204I|PPP1R7_ENST00000402734.1_Silent_p.I145I|PPP1R7_ENST00000407025.1_Silent_p.I204I|PPP1R7_ENST00000401987.1_Silent_p.I161I|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Silent_p.I161I|PPP1R7_ENST00000404405.3_Silent_p.I198I	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	204					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCGAAAATATCGACACCTTAA	0.502																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(610-612)atC>atT		protein phosphatase 1, regulatory subunit 7							176.0	186.0	183.0					2																	242102714		2203	4300	6503	SO:0001819	synonymous_variant	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242102714C>T	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.612C>T	2.37:g.242102714C>T						PPP1R7_ENST00000404405.3_Silent_p.I198I|PPP1R7_ENST00000406106.3_Silent_p.I204I|PPP1R7_ENST00000402734.1_Silent_p.I145I|PPP1R7_ENST00000407025.1_Silent_p.I204I|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Silent_p.I161I|PPP1R7_ENST00000401987.1_Silent_p.I161I	p.I204I	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	7	1086	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	204					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	c.612C>T	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	C	0.685	-0.796876	0.02862	.	.	ENSG00000115685	ENST00000450367	.	.	.	5.03	-1.38	0.09027	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47573	-0.9107	4	.	.	.	-19.692	8.4229	0.32712	0.0:0.4391:0.1022:0.4587	.	.	.	.	L	179	.	.	S	+	2	0	PPP1R7	241751387	0.000000	0.05858	0.991000	0.47740	0.083000	0.17756	-4.267000	0.00263	-0.264000	0.09365	-1.728000	0.00702	TCG		0.502	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		96	180	0	0	0	1	0	96	180				
ALG3	10195	broad.mit.edu	37	3	183960347	183960347	+	Silent	SNP	C	C	T	rs372724502	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183960347C>T	ENST00000397676.3	-	9	1302	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	ALG3_ENST00000455059.1_Silent_p.P384P|ALG3_ENST00000445626.2_Silent_p.P376P|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Silent_p.P368P|MIR1224_ENST00000408193.1_RNA|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	424					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)	p.P424P(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAAGGCTGCGGGCCCAGCC	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18435	0.0		0.0	False		,,,				2504	0.002					ENST00000455059.1																			1	Substitution - coding silent(1)	p.P424P(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(1150-1152)ccG>ccA		ALG3, alpha-1,3- mannosyltransferase		C	,	1,4031		0,1,2015	61.0	67.0	65.0		1128,1272	-3.2	0.8	3		65	0,8382		0,0,4191	no	coding-synonymous,coding-synonymous	ALG3	NM_001006941.2,NM_005787.5	,	0,1,6206	TT,TC,CC		0.0,0.0248,0.0081	,	376/391,424/439	183960347	1,12413	2016	4191	6207	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960347C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1272G>A	3.37:g.183960347C>T						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.P368P|ALG3_ENST00000445626.2_Silent_p.P376P|ALG3_ENST00000397676.3_Silent_p.P424P	p.P384P			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1606	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		424					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.1152G>A	CCDS46968.1																																																																																				0.592	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		8	13	0	0	0	1	0	8	13				
CYP4Z2P	163720	broad.mit.edu	37	1	47325249	47325249	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47325249T>C	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAATAACTGTTAAAGACATGA	0.398																																						ENST00000505841.1																			0																																																			0							g.chr1:47325249T>C	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325249T>C								NR_002788.2						0	1204	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.398	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		5	13	0	0	0	1	0	5	13				
DNAJC3	5611	broad.mit.edu	37	13	96439386	96439386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96439386C>T	ENST00000602402.1	+	11	1451	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	DNAJC3_ENST00000376795.6_Missense_Mutation_p.A394V	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	445	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGCAGCTGCTAAAGAAGTC	0.413																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1333-1335)gCt>gTt		DnaJ (Hsp40) homolog, subfamily C, member 3							123.0	129.0	127.0					13																	96439386		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96439386C>T	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1334C>T	13.37:g.96439386C>T	ENSP00000473631:p.Ala445Val					DNAJC3_ENST00000376795.6_Missense_Mutation_p.A394V	p.A445V	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		11	1451	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		445			J.		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.1334C>T	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388323	0.95988	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.92	5.92	0.95590	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88483	0.3070	9	0.87932	D	0	-16.54	20.3206	0.98668	0.0:1.0:0.0:0.0	.	445;445	A8KA82;Q13217	.;DNJC3_HUMAN	V	445	.	ENSP00000365991:A445V	A	+	2	0	DNAJC3	95237387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.809000	0.96659	0.655000	0.94253	GCT		0.413	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			33	81	0	0	0	1	0	33	81				
LRP1B	53353	broad.mit.edu	37	2	141707849	141707849	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141707849A>G	ENST00000389484.3	-	20	4062	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1031	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCCCCACAGTCATTGTCA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3091-3093)Tgt>Cgt		low density lipoprotein receptor-related protein 1B							78.0	59.0	65.0					2																	141707849		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141707849A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3091T>C	2.37:g.141707849A>G	ENSP00000374135:p.Cys1031Arg	TSP Lung(27;0.18)					p.C1031R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	20	4062	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1031			LDL-receptor class A 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3091T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.499069	0.85069	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99937	-8.0;-8.33	5.59	5.59	0.84812	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99959	0.9983	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.997	D	0.96175	0.9126	10	0.87932	D	0	.	15.7868	0.78310	1.0:0.0:0.0:0.0	.	214;1031	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	R	1031;969;176	ENSP00000374135:C1031R;ENSP00000413239:C176R	ENSP00000374135:C1031R	C	-	1	0	LRP1B	141424319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.191000	0.94940	2.140000	0.66376	0.460000	0.39030	TGT		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	22	0	0	0	1	0	11	22				
SERPINE3	647174	broad.mit.edu	37	13	51915233	51915233	+	Silent	SNP	G	G	A	rs370298472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51915233G>A	ENST00000521255.1	+	1	66	c.6G>A	c.(4-6)ccG>ccA	p.P2P	SERPINE3_ENST00000524365.1_Silent_p.P2P|SERPINE3_ENST00000400389.4_Silent_p.P2P	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	2					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CCTCCATGCCGCCTTTCCTGA	0.552																																						ENST00000524365.1																			0				ovary(2)	2						c.(4-6)ccG>ccA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							99.0	102.0	101.0					13																	51915233		2094	4226	6320	SO:0001819	synonymous_variant	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915233G>A	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.6G>A	13.37:g.51915233G>A						SERPINE3_ENST00000400389.4_Silent_p.P2P|SERPINE3_ENST00000521255.1_Silent_p.P2P	p.P2P			A8MV23	SERP3_HUMAN			4	631	+			2					B1V8P3	Silent	SNP	ENST00000521255.1	37	c.6G>A	CCDS53870.1																																																																																				0.552	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		25	20	0	0	0	1	0	25	20				
WBP2	23558	broad.mit.edu	37	17	73851271	73851271	+	Intron	SNP	C	C	A	rs199708194		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73851271C>A	ENST00000591399.1	-	2	484				WBP2_ENST00000585462.1_De_novo_Start_OutOfFrame|WBP2_ENST00000254806.3_Intron|WBP2_ENST00000433525.2_Intron|WBP2_ENST00000590450.1_Intron|WBP2_ENST00000590221.1_Intron|WBP2_ENST00000344296.4_Intron			Q969T9	WBP2_HUMAN	WW domain binding protein 2						cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCCACTTCCTCGACACCCG	0.602																																						ENST00000585462.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7								WW domain binding protein 2							115.0	120.0	118.0					17																	73851271		2203	4300	6503	SO:0001627	intron_variant	23558						protein binding	g.chr17:73851271C>A	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.59+48G>T	17.37:g.73851271C>A						WBP2_ENST00000590450.1_Intron|WBP2_ENST00000590221.1_Intron|WBP2_ENST00000591399.1_Intron|WBP2_ENST00000433525.2_Intron|WBP2_ENST00000344296.4_Intron|WBP2_ENST00000254806.3_Intron				Q969T9	WBP2_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		0	132	-								O95638	Translation_Start_Site	SNP	ENST00000591399.1	37		CCDS11731.1																																																																																				0.602	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		24	100	1	0	6.36457e-07	1	7.41396e-07	24	100				
PCNXL4	64430	broad.mit.edu	37	14	60574564	60574564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60574564T>C	ENST00000406854.1	+	2	762	c.208T>C	c.(208-210)Tat>Cat	p.Y70H	PCNXL4_ENST00000404681.2_Missense_Mutation_p.Y70H|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000391611.2_Missense_Mutation_p.Y70H			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	70						integral component of membrane (GO:0016021)											CCTGAAAGACTATTATACAGC	0.368																																						ENST00000406854.1																			0											c.(208-210)Tat>Cat		pecanex-like 4 (Drosophila)							68.0	65.0	66.0					14																	60574564		876	1991	2867	SO:0001583	missense	64430							g.chr14:60574564T>C	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.208T>C	14.37:g.60574564T>C	ENSP00000384801:p.Tyr70His					PCNXL4_ENST00000391611.2_Missense_Mutation_p.Y70H|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.Y70H|PCNXL4_ENST00000406949.1_Intron	p.Y70H							2	762	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.208T>C		.	.	.	.	.	.	.	.	.	.	T	16.41	3.114999	0.56505	.	.	ENSG00000126773	ENST00000391611;ENST00000406854;ENST00000404681	T;T	0.23754	1.89;1.89	5.69	4.55	0.56014	.	0.071793	0.08080	U	1.000000	T	0.42675	0.1213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02526	-1.1146	7	0.72032	D	0.01	.	11.6025	0.51012	0.0:0.0696:0.0:0.9304	.	.	.	.	H	70	ENSP00000384801:Y70H;ENSP00000385713:Y70H	ENSP00000375469:Y70H	Y	+	1	0	C14orf135	59644317	1.000000	0.71417	0.973000	0.42090	0.735000	0.41995	2.452000	0.44961	0.991000	0.38814	-0.256000	0.11100	TAT		0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		4	32	0	0	0	1	0	4	32				
GRM2	2912	broad.mit.edu	37	3	51749692	51749692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749692C>T	ENST00000395052.3	+	4	2137	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	635					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGTACCTTACGGCGTCTTGG	0.587																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1903-1905)Cgg>Tgg		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						125.0	107.0	113.0					3																	51749692		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749692C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1903C>T	3.37:g.51749692C>T	ENSP00000378492:p.Arg635Trp					GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	p.R635W	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	2137	+			635					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1903C>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048681	0.75846	.	.	ENSG00000164082	ENST00000395052	D	0.90788	-2.73	5.16	4.26	0.50523	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96683	0.9505	10	0.87932	D	0	.	14.91	0.70749	0.1488:0.8512:0.0:0.0	.	635	Q14416	GRM2_HUMAN	W	635	ENSP00000378492:R635W	ENSP00000378492:R635W	R	+	1	2	GRM2	51724732	1.000000	0.71417	0.963000	0.40424	0.902000	0.53008	6.069000	0.71209	1.252000	0.44001	0.561000	0.74099	CGG		0.587	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			21	39	0	0	0	1	0	21	39				
VSIG1	340547	broad.mit.edu	37	X	107288394	107288394	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107288394C>T	ENST00000217957.5	+	1	151	c.34C>T	c.(34-36)Cta>Tta	p.L12L	VSIG1_ENST00000415430.3_Silent_p.L12L	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	12						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CTTTCTGATCCTAAGCTGCCT	0.408																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(34-36)Cta>Tta		V-set and immunoglobulin domain containing 1							104.0	71.0	82.0					X																	107288394		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107288394C>T	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.34C>T	X.37:g.107288394C>T						VSIG1_ENST00000217957.5_Silent_p.L12L	p.L12L	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			1	195	+			12					C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.34C>T	CCDS14535.1																																																																																				0.408	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		8	15	0	0	0	1	0	8	15				
CCDC73	493860	broad.mit.edu	37	11	32637485	32637485	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32637485C>A	ENST00000335185.5	-	15	1419		c.e15+1		CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTAAGGTTACCATCTATAAT	0.264																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.e15+1		coiled-coil domain containing 73							28.0	27.0	27.0					11																	32637485		1767	4031	5798	SO:0001630	splice_region_variant	493860							g.chr11:32637485C>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1375+1G>T	11.37:g.32637485C>A						CCDC73_ENST00000534415.1_5'UTR		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			15	1419	-	Breast(20;0.112)							Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	ENST00000335185.5	37		CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393983	0.42410	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9026	0.70692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC73	32594061	1.000000	0.71417	0.988000	0.46212	0.425000	0.31504	3.863000	0.56016	2.663000	0.90544	0.585000	0.79938	.		0.264	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	Intron	4	11	1	0	0.00909568	1	0.00947522	4	11				
TNRC18	84629	broad.mit.edu	37	7	5347924	5347924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5347924G>A	ENST00000430969.1	-	30	9068	c.8720C>T	c.(8719-8721)tCg>tTg	p.S2907L	TNRC18_ENST00000399537.4_Missense_Mutation_p.S2907L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2907	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCCACATGCGAGGACTGGTA	0.627																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8719-8721)tCg>tTg		trinucleotide repeat containing 18							36.0	35.0	35.0					7																	5347924		2055	4183	6238	SO:0001583	missense	84629						DNA binding	g.chr7:5347924G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8720C>T	7.37:g.5347924G>A	ENSP00000395538:p.Ser2907Leu					TNRC18_ENST00000430969.1_Missense_Mutation_p.S2907L	p.S2907L			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	30	9068	-		Ovarian(82;0.142)	2907			BAH.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8720C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	13.38	2.221080	0.39201	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	D;D	0.85773	-2.03;-2.03	4.65	4.65	0.58169	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.90758	0.7099	L	0.59436	1.845	0.40435	D	0.979987	D	0.89917	1.0	D	0.87578	0.998	D	0.91646	0.5331	9	0.52906	T	0.07	.	17.1047	0.86659	0.0:0.0:1.0:0.0	.	2907	O15417	TNC18_HUMAN	L	2907	ENSP00000382452:S2907L;ENSP00000395538:S2907L	ENSP00000382452:S2907L	S	-	2	0	TNRC18	5314450	1.000000	0.71417	0.905000	0.35620	0.311000	0.27955	5.978000	0.70501	2.100000	0.63781	0.555000	0.69702	TCG		0.627	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	6	0	0	0	1	0	14	6				
LARP4	113251	broad.mit.edu	37	12	50867246	50867246	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50867246A>G	ENST00000398473.2	+	14	1706	c.1594A>G	c.(1594-1596)Aca>Gca	p.T532A	LARP4_ENST00000293618.8_Missense_Mutation_p.T461A|LARP4_ENST00000429001.3_Missense_Mutation_p.T538A|LARP4_ENST00000518444.1_Missense_Mutation_p.T531A|LARP4_ENST00000347328.5_Missense_Mutation_p.T461A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	532					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGATGAGCAGACAGAATGCAC	0.383																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(1594-1596)Aca>Gca		La ribonucleoprotein domain family, member 4							93.0	89.0	90.0					12																	50867246		1924	4135	6059	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50867246A>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1594A>G	12.37:g.50867246A>G	ENSP00000381490:p.Thr532Ala					LARP4_ENST00000293618.8_Missense_Mutation_p.T461A|LARP4_ENST00000518444.1_Missense_Mutation_p.T531A|LARP4_ENST00000429001.3_Missense_Mutation_p.T538A|LARP4_ENST00000347328.5_Missense_Mutation_p.T461A	p.T532A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			14	1706	+			532					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1594A>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	2.567	-0.300568	0.05495	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	3.98	1.61	0.23674	.	0.299183	0.35124	N	0.003427	T	0.23846	0.0577	L	0.31207	0.915	0.09310	N	1	B;B;B;B;B;B	0.12013	0.005;0.002;0.0;0.001;0.001;0.002	B;B;B;B;B;B	0.13407	0.004;0.009;0.003;0.003;0.004;0.002	T	0.21381	-1.0247	10	0.11794	T	0.64	.	6.4766	0.22039	0.6903:0.0:0.3097:0.0	.	433;531;461;461;532;538	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	A	461;538;532;531;433;461	ENSP00000293618:T461A;ENSP00000415464:T538A;ENSP00000381490:T532A;ENSP00000429077:T531A;ENSP00000340901:T461A	ENSP00000293618:T461A	T	+	1	0	LARP4	49153513	0.950000	0.32346	0.997000	0.53966	0.898000	0.52572	-0.017000	0.12590	0.230000	0.21059	0.366000	0.22137	ACA		0.383	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		5	49	0	0	0	1	0	5	49				
ZBTB44	29068	broad.mit.edu	37	11	130131194	130131194	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130131194G>T	ENST00000357899.4	-	2	847	c.575C>A	c.(574-576)cCt>cAt	p.P192H	ZBTB44_ENST00000530205.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000525842.1_Missense_Mutation_p.P192H			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AGGACTTTCAGGAGACATAAC	0.463																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(574-576)cCt>cAt		zinc finger and BTB domain containing 44							86.0	81.0	83.0					11																	130131194		1933	4135	6068	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131194G>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.575C>A	11.37:g.130131194G>T	ENSP00000350574:p.Pro192His					ZBTB44_ENST00000530205.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000357899.4_Missense_Mutation_p.P192H|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P192H	p.P192H	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	942	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	192					Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.575C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.48|19.48	3.836404|3.836404	0.71373|0.71373	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191	.|T;T;T;T;T	.|0.72505	.|-0.66;-0.66;-0.66;-0.66;-0.66	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78521|0.78521	0.4296|0.4296	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.99;0.999	T|T	0.80779|0.80779	-0.1230|-0.1230	5|10	.|0.87932	.|D	.|0	.|.	19.4488|19.4488	0.94859|0.94859	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192;192;192;192	.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;.;ZBT44_HUMAN;.	M|H	46|192;192;192;192;192;104	.|ENSP00000433457:P192H;ENSP00000380861:P192H;ENSP00000408079:P192H;ENSP00000350574:P192H;ENSP00000434177:P192H	.|ENSP00000341618:P104H	L|P	-|-	1|2	2|0	ZBTB44|ZBTB44	129636404|129636404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.224000|7.224000	0.78042|0.78042	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.463	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		6	52	1	0	0.00198382	1	0.00210581	6	52				
AXIN2	8313	broad.mit.edu	37	17	63532578	63532578	+	Silent	SNP	G	G	A	rs376242268		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63532578G>A	ENST00000375702.5	-	6	1914	c.1806C>T	c.(1804-1806)agC>agT	p.S602S	AXIN2_ENST00000307078.5_Silent_p.S667S			Q9Y2T1	AXIN2_HUMAN	axin 2	642				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGGTGCCCGCTGTTGCCCC	0.667									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1999-2001)agC>agT		axin 2		G		0,4406		0,0,2203	24.0	30.0	28.0		2001	-7.8	0.0	17		28	1,8595		0,1,4297	no	coding-synonymous	AXIN2	NM_004655.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		667/844	63532578	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532578G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1806C>T	17.37:g.63532578G>A						AXIN2_ENST00000375702.5_Silent_p.S602S	p.S667S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			8	2314	-			667					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.2001C>T																																																																																					0.667	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		14	18	0	0	0	1	0	14	18				
ST5	6764	broad.mit.edu	37	11	8717989	8717989	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8717989T>C	ENST00000534127.1	-	21	3662	c.3277A>G	c.(3277-3279)Aag>Gag	p.K1093E	ST5_ENST00000357665.1_Missense_Mutation_p.K1093E|ST5_ENST00000526757.1_Missense_Mutation_p.K673E|ST5_ENST00000313726.6_Missense_Mutation_p.K1093E|ST5_ENST00000530438.1_Missense_Mutation_p.K673E|ST5_ENST00000534278.1_Missense_Mutation_p.K284E|ST5_ENST00000530991.1_Missense_Mutation_p.K565E|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.K606E|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1093					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCCCGACACTTTCTTAGCTCC	0.483																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(3277-3279)Aag>Gag		suppression of tumorigenicity 5							212.0	228.0	222.0					11																	8717989		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8717989T>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3277A>G	11.37:g.8717989T>C	ENSP00000433528:p.Lys1093Glu					ST5_ENST00000530991.1_Missense_Mutation_p.K565E|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.K606E|ST5_ENST00000526757.1_Missense_Mutation_p.K673E|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.K284E|ST5_ENST00000530438.1_Missense_Mutation_p.K673E|ST5_ENST00000357665.1_Missense_Mutation_p.K1093E|ST5_ENST00000313726.6_Missense_Mutation_p.K1093E	p.K1093E	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	21	3662	-			1093					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.3277A>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388347	0.82902	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.15139	2.93;3.25;3.25;2.94;3.25;2.92;2.45;2.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	L	0.54323	1.7	0.54753	D	0.999981	P;P;P	0.47253	0.695;0.779;0.892	B;P;P	0.47251	0.23;0.511;0.542	T	0.01027	-1.1476	10	0.87932	D	0	-21.5445	16.2742	0.82636	0.0:0.0:0.0:1.0	.	606;673;1093	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	E	673;1093;1093;565;1093;606;284;673	ENSP00000435097:K673E;ENSP00000433528:K1093E;ENSP00000319678:K1093E;ENSP00000432887:K565E;ENSP00000350294:K1093E;ENSP00000436808:K606E;ENSP00000433349:K284E;ENSP00000436802:K673E	ENSP00000319678:K1093E	K	-	1	0	ST5	8674565	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.472000	0.80996	2.253000	0.74438	0.533000	0.62120	AAG		0.483	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		5	322	0	0	0	1	0	5	322				
NEBL	10529	broad.mit.edu	37	10	21101818	21101818	+	Missense_Mutation	SNP	C	C	T	rs367986765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21101818C>T	ENST00000377122.4	-	24	2794	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	NEBL_ENST00000417816.2_Missense_Mutation_p.V137I|NEBL_ENST00000377159.4_Missense_Mutation_p.V103I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	800					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGTCCACGACGGGAGTAAAG	0.458																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2398-2400)Gtc>Atc		nebulette		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	110.0	90.0	96.0		409,2398,409	3.8	0.5	10		96	0,8600		0,0,4300	no	missense,missense,missense	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	137/225,800/1015,137/271	21101818	1,13005	2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21101818C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2398G>A	10.37:g.21101818C>T	ENSP00000366326:p.Val800Ile					NEBL_ENST00000417816.2_Missense_Mutation_p.V137I|NEBL_ENST00000377159.4_Missense_Mutation_p.V103I	p.V800I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			24	2794	-			800					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2398G>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211432	0.22289	2.27E-4	0.0	ENSG00000078114	ENST00000377122;ENST00000417816;ENST00000377159	T;T;T	0.32272	3.03;1.46;1.46	5.69	3.84	0.44239	.	0.066783	0.64402	D	0.000011	T	0.24586	0.0596	L	0.52573	1.65	0.09310	N	1	B;B	0.32968	0.392;0.121	B;B	0.21708	0.036;0.01	T	0.11991	-1.0565	10	0.44086	T	0.13	.	10.7456	0.46179	0.0:0.7953:0.0:0.2047	.	137;800	Q70I54;O76041	.;NEBL_HUMAN	I	800;137;103	ENSP00000366326:V800I;ENSP00000393896:V137I;ENSP00000366364:V103I	ENSP00000366326:V800I	V	-	1	0	NEBL	21141824	0.857000	0.29778	0.461000	0.27105	0.223000	0.24884	2.452000	0.44961	0.871000	0.35750	0.655000	0.94253	GTC		0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		7	46	0	0	0	1	0	7	46				
IFFO1	25900	broad.mit.edu	37	12	6658995	6658995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6658995C>T	ENST00000396840.2	-	4	1039	c.998G>A	c.(997-999)cGc>cAc	p.R333H	IFFO1_ENST00000465801.1_Missense_Mutation_p.R26H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R333H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R333H|IFFO1_ENST00000436152.2_Missense_Mutation_p.R26H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	333						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGTCGATGCGGCGGCAGAT	0.597																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(76-78)cGc>cAc		intermediate filament family orphan 1							140.0	86.0	105.0					12																	6658995		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6658995C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.998G>A	12.37:g.6658995C>T	ENSP00000380052:p.Arg333His					IFFO1_ENST00000356896.4_Missense_Mutation_p.R333H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R333H|IFFO1_ENST00000396840.2_Missense_Mutation_p.R333H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R26H	p.R26H			Q0D2I5	IFFO1_HUMAN			5	636	-			333					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.77G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.909236|4.909236	0.92107|0.92107	.|.	.|.	ENSG00000010295|ENSG00000010295	ENST00000416019|ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896	.|D;D;D;D;D	.|0.96073	.|-3.56;-3.9;-2.54;-2.52;-2.6	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	.|0.000000	.|0.64402	.|D	.|0.000016	D|D	0.97102|0.97102	0.9053|0.9053	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.997;0.997;0.997	D|D	0.97570|0.97570	1.0104|1.0104	5|10	.|0.59425	.|D	.|0.04	-15.8544|-15.8544	16.1817|16.1817	0.81909|0.81909	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|333;333;333;333	.|Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.|.;.;IFFO1_HUMAN;.	T|H	65|26;26;333;333;333	.|ENSP00000390721:R26H;ENSP00000436261:R26H;ENSP00000337593:R333H;ENSP00000380052:R333H;ENSP00000349364:R333H	.|ENSP00000337593:R333H	A|R	-|-	1|2	0|0	IFFO1|IFFO1	6529256|6529256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.320000|7.320000	0.79064|0.79064	2.049000|2.049000	0.60858|0.60858	0.491000|0.491000	0.48974|0.48974	GCA|CGC		0.597	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		10	20	0	0	0	1	0	10	20				
ZNF470	388566	broad.mit.edu	37	19	57089730	57089730	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089730G>T	ENST00000330619.8	+	6	2619	c.1933G>T	c.(1933-1935)Gga>Tga	p.G645*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.G645*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AATTCATACAGGAGAGAAACC	0.413																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1933-1935)Gga>Tga		zinc finger protein 470							78.0	76.0	76.0					19																	57089730		2203	4300	6503	SO:0001587	stop_gained	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089730G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1933G>T	19.37:g.57089730G>T	ENSP00000333223:p.Gly645*					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.G645*	p.G645*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2619	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	645					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Nonsense_Mutation	SNP	ENST00000330619.8	37	c.1933G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	43	10.492358	0.99415	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8764	0.70498	0.0:0.0:1.0:0.0	.	.	.	.	X	645	.	ENSP00000333223:G645X	G	+	1	0	ZNF470	61781542	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	9.081000	0.94049	2.030000	0.59900	0.561000	0.74099	GGA		0.413	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		8	46	1	0	5.18039e-06	1	5.91835e-06	8	46				
RAPGEF6	51735	broad.mit.edu	37	5	130815253	130815253	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815253C>T	ENST00000509018.1	-	16	2239	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	RAPGEF6_ENST00000308008.6_Silent_p.K678K|RAPGEF6_ENST00000296859.6_Silent_p.K678K|RAPGEF6_ENST00000507093.1_Silent_p.K678K|RAPGEF6_ENST00000307984.5_Silent_p.K678K|CTC-432M15.3_ENST00000514667.1_Silent_p.K728K|RAPGEF6_ENST00000510071.1_Silent_p.K678K|RAPGEF6_ENST00000512052.1_Silent_p.K393K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	678					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TATCCAAAATCTTCCTGATTT	0.373																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2032-2034)aaG>aaA		Rap guanine nucleotide exchange factor (GEF) 6							141.0	133.0	136.0					5																	130815253		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815253C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2034G>A	5.37:g.130815253C>T						RAPGEF6_ENST00000307984.5_Silent_p.K678K|RAPGEF6_ENST00000507093.1_Silent_p.K678K|RAPGEF6_ENST00000308008.6_Silent_p.K678K|RAPGEF6_ENST00000512052.1_Silent_p.K393K|RAPGEF6_ENST00000296859.6_Silent_p.K678K|RAPGEF6_ENST00000510071.1_Silent_p.K678K|FNIP1_ENST00000514667.1_Silent_p.K728K	p.K678K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2239	-			678					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.2034G>A	CCDS34225.1																																																																																				0.373	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		32	51	0	0	0	1	0	32	51				
TRAPPC11	60684	broad.mit.edu	37	4	184601408	184601408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184601408C>A	ENST00000334690.6	+	10	1303	c.1101C>A	c.(1099-1101)ctC>ctA	p.L367L	TRAPPC11_ENST00000357207.4_Silent_p.L367L	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	367					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CAAAAACCCTCTGTAACCACG	0.383																																						ENST00000334690.6																			0											c.(1099-1101)ctC>ctA		trafficking protein particle complex 11							114.0	112.0	113.0					4																	184601408		2203	4300	6503	SO:0001819	synonymous_variant	60684							g.chr4:184601408C>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1101C>A	4.37:g.184601408C>A						TRAPPC11_ENST00000357207.4_Silent_p.L367L	p.L367L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			10	1303	+			367					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.1101C>A	CCDS34112.1																																																																																				0.383	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		33	46	1	0	1.21669e-08	1	1.46242e-08	33	46				
APBB1	322	broad.mit.edu	37	11	6432549	6432549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432549G>A	ENST00000609360.1	-	2	128	c.29C>T	c.(28-30)tCg>tTg	p.S10L	APBB1_ENST00000389906.2_Missense_Mutation_p.S10L|APBB1_ENST00000299402.6_Missense_Mutation_p.S10L|APBB1_ENST00000311051.3_Missense_Mutation_p.S10L	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	10					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTAATGGCCGACTGGCTCAG	0.617																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(28-30)tCg>tTg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							71.0	65.0	67.0					11																	6432549		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432549G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.29C>T	11.37:g.6432549G>A	ENSP00000477213:p.Ser10Leu					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.S10L|APBB1_ENST00000311051.3_Missense_Mutation_p.S10L	p.S10L	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	128	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	10					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.978127	0.74360	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758	T;T;T	0.14144	2.53;2.53;2.53	4.96	4.96	0.65561	.	0.427811	0.17383	N	0.176252	T	0.09335	0.0230	N	0.14661	0.345	0.26851	N	0.968171	B	0.24576	0.106	B	0.20384	0.029	T	0.15435	-1.0437	10	0.87932	D	0	-3.7757	11.9392	0.52890	0.0:0.1758:0.8242:0.0	.	10	O00213-2	.	L	10	ENSP00000299402:S10L;ENSP00000311912:S10L;ENSP00000374556:S10L	ENSP00000299402:S10L	S	-	2	0	APBB1	6389125	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.155000	0.31700	2.469000	0.83416	0.393000	0.25936	TCG		0.617	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		38	71	0	0	0	1	0	38	71				
ACACB	32	broad.mit.edu	37	12	109644624	109644624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109644624G>A	ENST00000338432.7	+	20	3142	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N	ACACB_ENST00000377854.5_Missense_Mutation_p.S1008N|ACACB_ENST00000377848.3_Missense_Mutation_p.S1008N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1008					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AACGTCATGAGTGGCTTTTGT	0.547																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3022-3024)aGt>aAt		acetyl-CoA carboxylase beta	Biotin(DB00121)						138.0	129.0	132.0					12																	109644624		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109644624G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3023G>A	12.37:g.109644624G>A	ENSP00000341044:p.Ser1008Asn					ACACB_ENST00000377848.3_Missense_Mutation_p.S1008N|ACACB_ENST00000377854.5_Missense_Mutation_p.S1008N	p.S1008N			O00763	ACACB_HUMAN			20	3142	+			1008					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3023G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	3.580	-0.085775	0.07097	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.41758	0.99;0.99;0.99	5.29	-2.26	0.06867	Acetyl-CoA carboxylase, central domain (1);	0.361022	0.34245	N	0.004134	T	0.06508	0.0167	N	0.00119	-2.075	0.58432	D	0.999998	B	0.02656	0.0	B	0.09377	0.004	T	0.35895	-0.9770	10	0.06757	T	0.87	.	6.3624	0.21435	0.6754:0.0:0.1768:0.1478	.	1008	O00763	ACACB_HUMAN	N	1008;1008;1008;239	ENSP00000341044:S1008N;ENSP00000367079:S1008N;ENSP00000367085:S1008N	ENSP00000341044:S1008N	S	+	2	0	ACACB	108129007	0.469000	0.25846	0.474000	0.27266	0.706000	0.40770	1.110000	0.31147	-0.276000	0.09206	-0.181000	0.13052	AGT		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		34	57	0	0	0	1	0	34	57				
M1AP	130951	broad.mit.edu	37	2	74842262	74842262	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74842262G>T	ENST00000290536.5	-	3	371	c.255C>A	c.(253-255)aaC>aaA	p.N85K	M1AP_ENST00000409585.1_Missense_Mutation_p.N85K|M1AP_ENST00000536235.1_Missense_Mutation_p.N85K|M1AP_ENST00000358434.2_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	85					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ACCTAGCAAAGTTCCCTTTCA	0.428																																						ENST00000290536.5																			0											c.(253-255)aaC>aaA		meiosis 1 associated protein							131.0	126.0	127.0					2																	74842262		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74842262G>T		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.255C>A	2.37:g.74842262G>T	ENSP00000290536:p.Asn85Lys					M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.N85K|M1AP_ENST00000536235.1_Missense_Mutation_p.N85K	p.N85K	NM_138804.3	NP_620159.2					3	371	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.255C>A	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590997	0.66219	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000421985	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.05	2.32	0.28847	.	0.046417	0.85682	D	0.000000	T	0.48874	0.1524	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.964;0.998	T	0.42649	-0.9439	10	0.66056	D	0.02	-0.2329	7.4437	0.27198	0.3261:0.0:0.6739:0.0	.	85;85;85	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	K	85	ENSP00000290536:N85K;ENSP00000386793:N85K;ENSP00000445662:N85K;ENSP00000414882:N85K	ENSP00000290536:N85K	N	-	3	2	C2orf65	74695770	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.139000	0.31504	0.462000	0.27095	0.650000	0.86243	AAC		0.428	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		37	52	1	0	2.35968e-33	1	3.16934e-33	37	52				
AKAP8	10270	broad.mit.edu	37	19	15484809	15484809	+	Silent	SNP	G	G	A	rs374886896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15484809G>A	ENST00000269701.2	-	4	219	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	53					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGGCTGGGCCGTAGCTGTAGG	0.622																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(157-159)taC>taT		A kinase (PRKA) anchor protein 8		G		0,4406		0,0,2203	47.0	53.0	51.0		159	-10.9	0.0	19		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AKAP8	NM_005858.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		53/693	15484809	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15484809G>A	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.159C>T	19.37:g.15484809G>A							p.Y53Y	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			4	219	-			53						Silent	SNP	ENST00000269701.2	37	c.159C>T	CCDS12329.1																																																																																				0.622	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		15	35	0	0	0	1	0	15	35				
CALR3	125972	broad.mit.edu	37	19	16591453	16591453	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16591453A>C	ENST00000269881.3	-	8	1045	c.983T>G	c.(982-984)tTt>tGt	p.F328C	CTD-3222D19.2_ENST00000409035.1_3'UTR|CALR3_ENST00000602234.1_5'Flank	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	328	C-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GGCCTTGCCAAAATTATCTGC	0.368																																						ENST00000269881.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						c.(982-984)tTt>tGt		calreticulin 3							95.0	89.0	91.0					19																	16591453		2203	4300	6503	SO:0001583	missense	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16591453A>C	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.983T>G	19.37:g.16591453A>C	ENSP00000269881:p.Phe328Cys					CTD-3222D19.2_ENST00000409035.1_3'UTR	p.F328C	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN			8	1045	-			328			C-domain.		D9N574|Q96LN3	Missense_Mutation	SNP	ENST00000269881.3	37	c.983T>G	CCDS12344.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183383	0.38511	.	.	ENSG00000141979	ENST00000269881;ENST00000409035	T	0.55588	0.51	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);	0.110683	0.64402	D	0.000007	T	0.67411	0.2890	M	0.73430	2.235	0.38021	D	0.934853	D	0.76494	0.999	D	0.64042	0.921	T	0.73770	-0.3878	10	0.59425	D	0.04	-30.0504	9.6867	0.40103	0.8451:0.0:0.0:0.1549	.	328	Q96L12	CALR3_HUMAN	C	328;125	ENSP00000269881:F328C	ENSP00000269881:F328C	F	-	2	0	CALR3	16452453	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	6.626000	0.74253	2.113000	0.64589	0.491000	0.48974	TTT		0.368	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046		15	14	0	0	0	1	0	15	14				
CCKBR	887	broad.mit.edu	37	11	6281259	6281259	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6281259T>C	ENST00000334619.2	+	1	294	c.101T>C	c.(100-102)gTg>gCg	p.V34A	CCKBR_ENST00000525462.1_Missense_Mutation_p.V34A|CCKBR_ENST00000532715.1_Missense_Mutation_p.V34A|CCKBR_ENST00000531712.1_Missense_Mutation_p.V34A|CCKBR_ENST00000525014.1_Missense_Mutation_p.V34A	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	34					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGCAGCAGTGTGGGCAACCTC	0.682																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(100-102)gTg>gCg		cholecystokinin B receptor	Pentagastrin(DB00183)						15.0	20.0	18.0					11																	6281259		2187	4287	6474	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6281259T>C	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.101T>C	11.37:g.6281259T>C	ENSP00000335544:p.Val34Ala					CCKBR_ENST00000334619.2_Missense_Mutation_p.V34A|CCKBR_ENST00000531712.1_Missense_Mutation_p.V34A|CCKBR_ENST00000532715.1_Missense_Mutation_p.V34A|CCKBR_ENST00000525014.1_Missense_Mutation_p.V34A	p.V34A			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	1	104	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	34					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.101T>C	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.490085	0.00161	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525014;ENST00000525462;ENST00000531712	T;T;T;T;T	0.75154	1.19;-0.91;1.19;1.19;0.87	2.9	-0.304	0.12788	.	1.563410	0.04184	N	0.327081	T	0.42200	0.1192	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34527	-0.9825	10	0.13108	T	0.6	.	5.5318	0.16989	0.0:0.6042:0.0:0.3958	.	34;34	P32239-2;P32239	.;GASR_HUMAN	A	34	ENSP00000335544:V34A;ENSP00000432079:V34A;ENSP00000437001:V34A;ENSP00000435534:V34A;ENSP00000435675:V34A	ENSP00000335544:V34A	V	+	2	0	CCKBR	6237835	0.000000	0.05858	0.015000	0.15790	0.021000	0.10359	0.495000	0.22483	-0.012000	0.14223	-1.071000	0.02255	GTG		0.682	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		4	8	0	0	0	1	0	4	8				
BARD1	580	broad.mit.edu	37	2	215645746	215645746	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215645746C>A	ENST00000260947.4	-	4	986	c.852G>T	c.(850-852)gaG>gaT	p.E284D	BARD1_ENST00000449967.2_Missense_Mutation_p.E140D|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	284					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTCTATTTGCTCAGCCAATG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(850-852)gaG>gaT		BRCA1 associated RING domain 1							65.0	66.0	66.0					2																	215645746		2203	4298	6501	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645746C>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.852G>T	2.37:g.215645746C>A	ENSP00000260947:p.Glu284Asp					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.E140D	p.E284D	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	986	-		Renal(323;0.0243)	284					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.852G>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780869	0.70222	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.73789	-0.78;-0.18	5.62	-1.83	0.07833	.	0.489569	0.20421	N	0.092676	T	0.66147	0.2760	M	0.67953	2.075	0.19575	N	0.999967	P;P	0.52842	0.956;0.828	B;B	0.44224	0.444;0.22	T	0.60100	-0.7329	10	0.32370	T	0.25	-25.3566	6.2541	0.20864	0.1448:0.2432:0.0:0.6119	.	140;284	E7EUI3;Q99728	.;BARD1_HUMAN	D	284;140	ENSP00000260947:E284D;ENSP00000406752:E140D	ENSP00000260947:E284D	E	-	3	2	BARD1	215353991	0.019000	0.18553	0.781000	0.31783	0.976000	0.68499	-0.169000	0.09911	-0.062000	0.13088	0.655000	0.94253	GAG		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		35	58	1	0	4.4194e-11	1	5.49217e-11	35	58				
FAM20C	56975	broad.mit.edu	37	7	195656	195656	+	Silent	SNP	C	C	T	rs545268162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:195656C>T	ENST00000313766.5	+	2	939	c.708C>T	c.(706-708)taC>taT	p.Y236Y	FAM20C_ENST00000471328.1_3'UTR|AC093627.12_ENST00000467050.1_RNA	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	236					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TCAACCGGTACGAGCTGTACT	0.617																																						ENST00000313766.5																			0				endometrium(1)|lung(2)|urinary_tract(1)	4						c.(706-708)taC>taT		family with sequence similarity 20, member C							68.0	74.0	72.0					7																	195656		2094	4208	6302	SO:0001819	synonymous_variant	56975					extracellular region		g.chr7:195656C>T	BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.708C>T	7.37:g.195656C>T						FAM20C_ENST00000471328.1_3'UTR	p.Y236Y	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)	2	939	+		Ovarian(82;0.0112)	236					A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Silent	SNP	ENST00000313766.5	37	c.708C>T	CCDS47522.1																																																																																				0.617	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		51	24	0	0	0	1	0	51	24				
ACTR10	55860	broad.mit.edu	37	14	58678106	58678106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58678106C>A	ENST00000254286.4	+	5	519	c.439C>A	c.(439-441)Ctg>Atg	p.L147M		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	147					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TAGGGAAAGCCTGGTGTTACC	0.383																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(439-441)Ctg>Atg		actin-related protein 10 homolog (S. cerevisiae)							189.0	187.0	188.0					14																	58678106		2203	4300	6503	SO:0001583	missense	55860					cytoplasm		g.chr14:58678106C>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.439C>A	14.37:g.58678106C>A	ENSP00000254286:p.Leu147Met						p.L147M	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			5	519	+			147					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.439C>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103442	0.37145	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94497	-3.44	5.92	3.91	0.45181	.	0.070867	0.56097	D	0.000023	D	0.91958	0.7453	M	0.67953	2.075	0.52501	D	0.999953	B	0.22346	0.068	B	0.29942	0.109	D	0.87690	0.2553	10	0.35671	T	0.21	-13.2819	5.6967	0.17859	0.1543:0.6192:0.0:0.2265	.	147	Q9NZ32	ARP10_HUMAN	M	147	ENSP00000254286:L147M	ENSP00000254286:L147M	L	+	1	2	ACTR10	57747859	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	1.056000	0.30480	1.489000	0.48450	0.650000	0.86243	CTG		0.383	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			60	105	1	0	5.5144e-22	1	7.27086e-22	60	105				
C9	735	broad.mit.edu	37	5	39341683	39341683	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39341683G>A	ENST00000263408.4	-	3	398	c.303C>T	c.(301-303)tgC>tgT	p.C101C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	101	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGTCATTTCCGCAGTCATCCT	0.448																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(301-303)tgC>tgT		complement component 9							113.0	101.0	105.0					5																	39341683		2203	4300	6503	SO:0001819	synonymous_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341683G>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.303C>T	5.37:g.39341683G>A						C9_ENST00000509186.1_5'UTR	p.C101C	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		3	398	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	101			LDL-receptor class A.			Silent	SNP	ENST00000263408.4	37	c.303C>T	CCDS3929.1																																																																																				0.448	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			16	32	0	0	0	1	0	16	32				
COPA	1314	broad.mit.edu	37	1	160275249	160275249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160275249G>A	ENST00000241704.7	-	17	1870	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N	COPA_ENST00000368069.3_Silent_p.N556N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	547					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTTGATGTGGTTGCTTGTGG	0.428																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1639-1641)aaC>aaT		coatomer protein complex, subunit alpha							133.0	129.0	130.0					1																	160275249		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160275249G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1641C>T	1.37:g.160275249G>A						COPA_ENST00000368069.3_Silent_p.N556N	p.N547N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	1870	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		547					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.1641C>T	CCDS1202.1																																																																																				0.428	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		9	105	0	0	0	1	0	9	105				
ADCY9	115	broad.mit.edu	37	16	4029158	4029158	+	Missense_Mutation	SNP	C	C	T	rs377240633	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029158C>T	ENST00000294016.3	-	8	3176	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	880					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGAGTAGACGGCCAGTGCG	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		17272	0.0		0.0	False		,,,				2504	0.002					ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2638-2640)Gtc>Atc		adenylate cyclase 9		C	ILE/VAL	0,4394		0,0,2197	131.0	126.0	128.0		2638	5.6	1.0	16		128	3,8597	3.0+/-9.4	0,3,4297	no	missense	ADCY9	NM_001116.3	29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	880/1354	4029158	3,12991	2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4029158C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2638G>A	16.37:g.4029158C>T	ENSP00000294016:p.Val880Ile						p.V880I	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			8	3176	-			880					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2638G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530529	0.45073	0.0	3.49E-4	ENSG00000162104	ENST00000294016	D	0.83673	-1.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	L	0.35854	1.095	0.58432	D	0.999999	P	0.42248	0.774	B	0.26310	0.068	T	0.72017	-0.4417	10	0.13470	T	0.59	.	19.5959	0.95538	0.0:1.0:0.0:0.0	.	880	O60503	ADCY9_HUMAN	I	880	ENSP00000294016:V880I	ENSP00000294016:V880I	V	-	1	0	ADCY9	3969159	1.000000	0.71417	0.956000	0.39512	0.042000	0.13812	7.450000	0.80656	2.617000	0.88574	0.655000	0.94253	GTC		0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			20	44	0	0	0	1	0	20	44				
HSPG2	3339	broad.mit.edu	37	1	22181426	22181426	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181426C>T	ENST00000374695.3	-	48	6127	c.6048G>A	c.(6046-6048)acG>acA	p.T2016T	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2016	Ig-like C2-type 5.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGTCAGCAGTCGTGATGGCTG	0.652																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(6046-6048)acG>acA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						85.0	82.0	83.0					1																	22181426		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22181426C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6048G>A	1.37:g.22181426C>T						HSPG2_ENST00000430507.1_5'UTR	p.T2016T	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	48	6127	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2016			Ig-like C2-type 5.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.6048G>A	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		13	20	0	0	0	1	0	13	20				
SEMA5B	54437	broad.mit.edu	37	3	122641112	122641112	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122641112G>T	ENST00000357599.3	-	11	1841	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	SEMA5B_ENST00000195173.4_Silent_p.L485L|SEMA5B_ENST00000451055.2_Silent_p.L539L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	485	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTACATGGTAGAGCGTGTCTT	0.667																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1453-1455)ctC>ctA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							68.0	59.0	62.0					3																	122641112		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122641112G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1455C>A	3.37:g.122641112G>T						SEMA5B_ENST00000451055.2_Silent_p.L539L|SEMA5B_ENST00000357599.3_Silent_p.L485L	p.L485L			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	11	1758	-			485			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.1455C>A	CCDS35491.1																																																																																				0.667	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		3	14	1	0	0.004672	1	0.0049138	3	14				
B3GALT5	10317	broad.mit.edu	37	21	41033236	41033236	+	Silent	SNP	C	C	T	rs199993795		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41033236C>T	ENST00000380620.4	+	5	1342	c.750C>T	c.(748-750)ctC>ctT	p.L250L	B3GALT5_ENST00000380618.1_Silent_p.L250L|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.L250L|B3GALT5_ENST00000398714.2_Silent_p.L250L			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	250					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GGCTCTGCCTCGAAAGGCTGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		16445	0.001		0.0	False		,,,				2504	0.0					ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(748-750)ctC>ctT		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							94.0	93.0	94.0					21																	41033236		2203	4300	6503	SO:0001819	synonymous_variant	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033236C>T	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.750C>T	21.37:g.41033236C>T						B3GALT5_ENST00000380618.1_Silent_p.L250L|B3GALT5_ENST00000398714.2_Silent_p.L250L|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.L250L	p.L250L			Q9Y2C3	B3GT5_HUMAN			5	1342	+		Prostate(19;2.55e-06)	250					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	c.750C>T	CCDS13667.1																																																																																				0.552	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		43	54	0	0	0	1	0	43	54				
PROX1	5629	broad.mit.edu	37	1	214171247	214171247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171247G>A	ENST00000366958.4	+	2	1977	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	PROX1_ENST00000261454.4_Missense_Mutation_p.A457T|PROX1_ENST00000435016.1_Missense_Mutation_p.A457T|PROX1_ENST00000498508.2_Missense_Mutation_p.A457T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	457				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGGCCCTGCCGCTGGCGGCCA	0.642																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1369-1371)Gct>Act		prospero homeobox 1							59.0	72.0	68.0					1																	214171247		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171247G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1369G>A	1.37:g.214171247G>A	ENSP00000355925:p.Ala457Thr					PROX1_ENST00000435016.1_Missense_Mutation_p.A457T|PROX1_ENST00000261454.4_Missense_Mutation_p.A457T|PROX1_ENST00000498508.2_Missense_Mutation_p.A457T	p.A457T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1977	+			457	PAA -> LV (in Ref. 1; AAC50656).				A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1369G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.943839	0.00479	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.71	2.82	0.32997	.	0.468385	0.25425	N	0.030761	T	0.18045	0.0433	N	0.12182	0.205	0.09310	N	1	B	0.20988	0.05	B	0.22152	0.038	T	0.32587	-0.9901	10	0.02654	T	1	-0.216	5.6896	0.17823	0.2208:0.2548:0.5243:0.0	.	457	Q92786	PROX1_HUMAN	T	29;457;457;457;457	ENSP00000420283:A457T;ENSP00000355925:A457T;ENSP00000400694:A457T;ENSP00000261454:A457T	ENSP00000261454:A457T	A	+	1	0	PROX1	212237870	0.212000	0.23540	0.022000	0.16811	0.063000	0.16089	0.693000	0.25497	0.339000	0.23719	0.655000	0.94253	GCT		0.642	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		9	86	0	0	0	1	0	9	86				
RSPRY1	89970	broad.mit.edu	37	16	57255217	57255217	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57255217C>T	ENST00000537866.1	+	10	1924	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R351C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	351	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGAAAGTGTGCGTTGCACCTT	0.483																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(1051-1053)Cgt>Tgt		ring finger and SPRY domain containing 1							181.0	172.0	175.0					16																	57255217		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57255217C>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1051C>T	16.37:g.57255217C>T	ENSP00000443176:p.Arg351Cys					RSPRY1_ENST00000394420.4_Missense_Mutation_p.R351C	p.R351C			Q96DX4	RSPRY_HUMAN			10	1924	+			351			B30.2/SPRY.		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1051C>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040045	0.93630	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.77229	-1.08;-1.08	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.90717	0.7087	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92088	0.5678	10	0.72032	D	0.01	.	16.1675	0.81782	0.1411:0.8589:0.0:0.0	.	351	Q96DX4	RSPRY_HUMAN	C	351	ENSP00000377942:R351C;ENSP00000443176:R351C	ENSP00000377942:R351C	R	+	1	0	RSPRY1	55812718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.134000	0.71689	2.861000	0.98227	0.655000	0.94253	CGT		0.483	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		51	81	0	0	0	1	0	51	81				
SLC4A2	6522	broad.mit.edu	37	7	150771489	150771489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150771489C>T	ENST00000485713.1	+	18	3834	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918W|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932W|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCAGATCCGGCGGGTGAT	0.602																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2794-2796)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 2							103.0	101.0	102.0					7																	150771489		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771489C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2794C>T	7.37:g.150771489C>T	ENSP00000419412:p.Arg932Trp					SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932W|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918W	p.R932W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	18	3834	+			932			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.2794C>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833286	0.91036	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.54	5.54	0.83059	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97499	1.0059	10	0.87932	D	0	.	18.0534	0.89356	0.0:1.0:0.0:0.0	.	923;918;932	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	W	932;932;850;923;918	ENSP00000419412:R932W;ENSP00000405600:R932W;ENSP00000311402:R850W;ENSP00000376571:R923W;ENSP00000419164:R918W	ENSP00000311402:R850W	R	+	1	2	SLC4A2	150402422	0.998000	0.40836	0.999000	0.59377	0.975000	0.68041	3.861000	0.56002	2.607000	0.88179	0.561000	0.74099	CGG		0.602	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		6	132	0	0	0	1	0	6	132				
GPR162	27239	broad.mit.edu	37	12	6934736	6934736	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6934736C>T	ENST00000311268.3	+	3	1742	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	GPR162_ENST00000382315.3_Silent_p.L15L|GPR162_ENST00000428545.2_Silent_p.L35L|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAGACGCTGCTGCTGCCCTC	0.637											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(955-957)Ctg>Ttg		G protein-coupled receptor 162							60.0	42.0	48.0					12																	6934736		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6934736C>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.955C>T	12.37:g.6934736C>T			OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	GPR162_ENST00000428545.2_Silent_p.L35L|GPR162_ENST00000382315.3_Silent_p.L15L	p.L319L	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			3	1742	+			319					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.955C>T	CCDS8563.1																																																																																				0.637	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		5	6	0	0	0	1	0	5	6				
SLC34A2	10568	broad.mit.edu	37	4	25678251	25678251	+	Silent	SNP	G	G	A	rs545092978		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25678251G>A	ENST00000382051.3	+	13	2003	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	SLC34A2_ENST00000503434.1_Silent_p.A650A|SLC34A2_ENST00000504570.1_Silent_p.A650A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	651					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGAGGAGGCGCAGGAGGGGC	0.617			T	ROS1	NSCLC								G|||	1	0.000199681	0.0	0.0	5008	,	,		18560	0.001		0.0	False		,,,				2504	0.0					ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1951-1953)gcG>gcA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							38.0	41.0	40.0					4																	25678251		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678251G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1953G>A	4.37:g.25678251G>A						SLC34A2_ENST00000503434.1_Silent_p.A650A|SLC34A2_ENST00000504570.1_Silent_p.A650A	p.A651A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	2003	+		Breast(46;0.0503)	651					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1953G>A	CCDS3435.1																																																																																				0.617	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		9	15	0	0	0	1	0	9	15				
TMEM231	79583	broad.mit.edu	37	16	75573914	75573914	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75573914A>G	ENST00000258173.6	-	7	1005	c.929T>C	c.(928-930)tTg>tCg	p.L310S	RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Missense_Mutation_p.L262S|TMEM231_ENST00000568377.1_Missense_Mutation_p.L339S|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000569294.1_5'Flank	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	310					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCCTTACACAAGTCTCCCCG	0.483																																						ENST00000398114.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(1015-1017)tTg>tCg		transmembrane protein 231							52.0	50.0	50.0					16																	75573914		1929	4139	6068	SO:0001583	missense	79583					integral to membrane		g.chr16:75573914A>G		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.929T>C	16.37:g.75573914A>G	ENSP00000258173:p.Leu310Ser					RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Missense_Mutation_p.L262S|TMEM231_ENST00000258173.6_Missense_Mutation_p.L310S	p.L339S	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN			6	1054	-			310					A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	ENST00000258173.6	37	c.1016T>C	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	A	6.669	0.492067	0.12702	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	T;T	0.78595	-0.06;-1.19	3.84	-3.55	0.04639	.	3.286940	0.01887	U	0.038269	T	0.49304	0.1549	N	0.03115	-0.41	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.39522	-0.9610	10	0.16420	T	0.52	7.4872	1.6388	0.02748	0.2679:0.1697:0.396:0.1663	.	310;339	Q9H6L2;G5E9E3	TM231_HUMAN;.	S	310;339	ENSP00000258173:L310S;ENSP00000381184:L339S	ENSP00000258173:L310S	L	-	2	0	TMEM231	74131415	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.081000	0.14823	-0.279000	0.09167	0.383000	0.25322	TTG		0.483	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	NM_001077416		14	15	0	0	0	1	0	14	15				
CACNG1	786	broad.mit.edu	37	17	65050168	65050168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65050168G>A	ENST00000226021.3	+	2	357	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	96					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGAGATCTTCGAATTCACCAC	0.542																																						ENST00000226021.3																			0				breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(286-288)Gaa>Aaa		calcium channel, voltage-dependent, gamma subunit 1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						100.0	100.0	100.0					17																	65050168		2203	4300	6503	SO:0001583	missense	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65050168G>A	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.286G>A	17.37:g.65050168G>A	ENSP00000226021:p.Glu96Lys						p.E96K	NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN			2	357	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		96					B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	c.286G>A	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865654	0.71949	.	.	ENSG00000108878	ENST00000226021	T	0.47528	0.84	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000003	T	0.49184	0.1542	M	0.65677	2.01	0.54753	D	0.999986	P	0.44521	0.837	B	0.42361	0.385	T	0.50750	-0.8791	10	0.26408	T	0.33	.	16.267	0.82593	0.0:0.0:1.0:0.0	.	96	Q06432	CCG1_HUMAN	K	96	ENSP00000226021:E96K	ENSP00000226021:E96K	E	+	1	0	CACNG1	62480630	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.322000	0.52007	2.129000	0.65627	0.491000	0.48974	GAA		0.542	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			32	48	0	0	0	1	0	32	48				
ZNF324	25799	broad.mit.edu	37	19	58982620	58982620	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58982620A>G	ENST00000536459.2	+	4	1470	c.761A>G	c.(760-762)gAg>gGg	p.E254G	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.E254G|ZNF324_ENST00000535298.1_Missense_Mutation_p.E31G			O75467	Z324A_HUMAN	zinc finger protein 324	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACGCTGGGGAGAAGTCCTTC	0.632																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(760-762)gAg>gGg		zinc finger protein 324							25.0	25.0	25.0					19																	58982620		2202	4275	6477	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982620A>G	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.761A>G	19.37:g.58982620A>G	ENSP00000444812:p.Glu254Gly					ZNF324_ENST00000535298.1_Missense_Mutation_p.E31G|ZNF324_ENST00000196482.3_Missense_Mutation_p.E254G	p.E254G			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1470	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	254					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.761A>G	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127738	0.56721	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.64260	-0.09;-0.09;-0.09	3.72	2.67	0.31697	Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.113080	0.06955	N	0.815262	T	0.60170	0.2248	L	0.38175	1.15	0.34103	D	0.662075	P	0.46621	0.881	P	0.48030	0.564	T	0.61103	-0.7130	10	0.72032	D	0.01	.	8.6463	0.34007	0.8066:0.1934:0.0:0.0	.	254	O75467	Z324A_HUMAN	G	254;254;254;244;31	ENSP00000196482:E254G;ENSP00000444812:E254G;ENSP00000439588:E31G	ENSP00000196482:E254G	E	+	2	0	ZNF324	63674432	0.561000	0.26578	0.121000	0.21740	0.110000	0.19582	2.602000	0.46257	0.739000	0.32628	0.374000	0.22700	GAG		0.632	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	22	0	0	0	1	0	3	22				
HSPA4	3308	broad.mit.edu	37	5	132406144	132406144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132406144G>A	ENST00000304858.2	+	4	674	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	129					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAGGAGACAGCCGAAAGTGT	0.423																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(385-387)Gcc>Acc		heat shock 70kDa protein 4							151.0	134.0	140.0					5																	132406144		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132406144G>A	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.385G>A	5.37:g.132406144G>A	ENSP00000302961:p.Ala129Thr						p.A129T	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	674	+			129					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.385G>A	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034030	0.93575	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01379	4.96	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28299	-1.0048	10	0.30078	T	0.28	-15.2042	19.9983	0.97395	0.0:0.0:1.0:0.0	.	129	P34932	HSP74_HUMAN	T	129	ENSP00000302961:A129T	ENSP00000302961:A129T	A	+	1	0	HSPA4	132434043	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.484000	0.81180	2.724000	0.93272	0.561000	0.74099	GCC		0.423	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		33	59	0	0	0	1	0	33	59				
ZNF646	9726	broad.mit.edu	37	16	31089168	31089168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089168G>A	ENST00000394979.2	+	1	1946	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R508H			O15015	ZN646_HUMAN	zinc finger protein 646	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGGCCCTGCGCAACCACGTG	0.642																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1522-1524)cGc>cAc		zinc finger protein 646							58.0	51.0	53.0					16																	31089168		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089168G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1523G>A	16.37:g.31089168G>A	ENSP00000378429:p.Arg508His					ZNF646_ENST00000300850.5_Missense_Mutation_p.R508H	p.R508H			O15015	ZN646_HUMAN			1	1946	+			508					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1523G>A		.	.	.	.	.	.	.	.	.	.	G	19.20	3.780803	0.70222	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.29655	1.56;1.56	5.63	5.63	0.86233	.	.	.	.	.	T	0.46833	0.1413	L	0.35341	1.055	0.35945	D	0.833489	D	0.89917	1.0	D	0.79108	0.992	T	0.52253	-0.8600	9	0.51188	T	0.08	-22.5039	18.4362	0.90646	0.0:0.0:1.0:0.0	.	508	O15015-2	.	H	508	ENSP00000300850:R508H;ENSP00000378429:R508H	ENSP00000300850:R508H	R	+	2	0	ZNF646	30996669	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.648000	0.54410	2.651000	0.90000	0.655000	0.94253	CGC		0.642	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		5	13	0	0	0	1	0	5	13				
PCDHGB4	8641	broad.mit.edu	37	5	140769033	140769033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140769033C>A	ENST00000519479.1	+	1	1582	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTTCGAACTCACACTGCA	0.677																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1582-1584)Ctc>Atc									38.0	43.0	41.0					5																	140769033		2042	4190	6232	SO:0001583	missense	0							g.chr5:140769033C>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1582C>A	5.37:g.140769033C>A	ENSP00000428288:p.Leu528Ile					PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.L528I	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1582	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1582C>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.576414	0.28092	.	.	ENSG00000253953	ENST00000519479	T	0.63744	-0.06	4.95	3.14	0.36123	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.57184	0.2036	N	0.17474	0.49	0.09310	N	0.999999	D;D	0.63880	0.993;0.99	P;D	0.64776	0.88;0.929	T	0.42310	-0.9459	9	0.23891	T	0.37	.	5.635	0.17532	0.147:0.6255:0.0:0.2276	.	528;528	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	I	528	ENSP00000428288:L528I	ENSP00000428288:L528I	L	+	1	0	PCDHGB4	140749217	0.000000	0.05858	0.874000	0.34290	0.327000	0.28475	-0.855000	0.04295	1.212000	0.43366	0.563000	0.77884	CTC		0.677	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		17	31	1	0	5.3912e-06	1	6.15692e-06	17	31				
MTMR2	8898	broad.mit.edu	37	11	95591744	95591744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95591744G>T	ENST00000346299.5	-	6	861	c.521C>A	c.(520-522)tCc>tAc	p.S174Y	MTMR2_ENST00000393223.3_Missense_Mutation_p.S102Y|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.S102Y|MTMR2_ENST00000409459.1_Missense_Mutation_p.S102Y	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	174					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCAAATATGGATCTTCTTGT	0.323																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(304-306)tCc>tAc		myotubularin related protein 2							125.0	134.0	131.0					11																	95591744		2201	4297	6498	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95591744G>T	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.521C>A	11.37:g.95591744G>T	ENSP00000345752:p.Ser174Tyr					MTMR2_ENST00000352297.7_Missense_Mutation_p.S102Y|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.S174Y|MTMR2_ENST00000409459.1_Missense_Mutation_p.S102Y	p.S102Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			8	967	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	174			GRAM.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.305C>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678249	0.68042	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	L	0.38838	1.175	0.80722	D	1	B;B	0.30021	0.265;0.016	B;B	0.34180	0.177;0.008	T	0.78705	-0.2100	10	0.59425	D	0.04	.	19.8293	0.96628	0.0:0.0:1.0:0.0	.	174;174	A8K5G2;Q13614	.;MTMR2_HUMAN	Y	174;102;102;102;102;157	ENSP00000345752:S174Y;ENSP00000376915:S102Y;ENSP00000386882:S102Y;ENSP00000343737:S102Y;ENSP00000396020:S102Y	ENSP00000345752:S174Y	S	-	2	0	MTMR2	95231392	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.987000	0.70571	2.749000	0.94314	0.655000	0.94253	TCC		0.323	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		60	74	1	0	3.58576e-35	1	4.82413e-35	60	74				
ZNF678	339500	broad.mit.edu	37	1	227842667	227842667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227842667G>A	ENST00000343776.5	+	4	1061	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	ZNF678_ENST00000397097.3_Missense_Mutation_p.C294Y|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C239F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CCCTACAAATGCAAAGAATGT	0.388																																						ENST00000343776.4																			1	Substitution - Missense(1)	p.C239F(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(715-717)tGc>tAc		zinc finger protein 678							57.0	65.0	62.0					1																	227842667		2202	4298	6500	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842667G>A	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.716G>A	1.37:g.227842667G>A	ENSP00000344828:p.Cys239Tyr					ZNF678_ENST00000397097.3_Missense_Mutation_p.C294Y|ZNF678_ENST00000498759.1_Intron	p.C239Y			F5GXA7	F5GXA7_HUMAN			4	1061	+		Prostate(94;0.0885)	294					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.716G>A		.	.	.	.	.	.	.	.	.	.	G	15.22	2.770270	0.49680	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	D;D	0.85088	-1.94;-1.94	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94722	0.8297	H	0.98980	4.39	0.32531	N	0.534934	D	0.89917	1.0	D	0.97110	1.0	D	0.93008	0.6429	9	0.62326	D	0.03	.	9.1647	0.37043	0.0:0.0:1.0:0.0	.	239	Q5SXM1	ZN678_HUMAN	Y	239;294	ENSP00000344828:C239Y;ENSP00000440403:C294Y	ENSP00000344828:C239Y	C	+	2	0	ZNF678	225909290	1.000000	0.71417	0.239000	0.24122	0.401000	0.30781	5.254000	0.65457	0.787000	0.33731	0.603000	0.83216	TGC		0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		38	72	0	0	0	1	0	38	72				
FNDC1	84624	broad.mit.edu	37	6	159687220	159687220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159687220G>A	ENST00000297267.9	+	21	5589	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1734R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1797					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAAGTTCGTGGGAGTTGTTCT	0.458																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5389-5391)Gga>Aga		fibronectin type III domain containing 1							156.0	151.0	153.0					6																	159687220		1929	4135	6064	SO:0001583	missense	84624					extracellular region		g.chr6:159687220G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5389G>A	6.37:g.159687220G>A	ENSP00000297267:p.Gly1797Arg					FNDC1_ENST00000340366.6_Missense_Mutation_p.G1734R	p.G1797R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	21	5589	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1797					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5389G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.432571|5.432571	0.96150|0.96150	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.61392	.|0.11;0.11	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72882|0.72882	0.3516|0.3516	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.68977|0.68977	-0.5267|-0.5267	6|9	.|.	.|.	.|.	-23.4039|-23.4039	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1797	.|Q4ZHG4	.|FNDC1_HUMAN	E|R	1692|1797;1734	.|ENSP00000297267:G1797R;ENSP00000342460:G1734R	.|.	G|G	+|+	2|1	0|0	FNDC1|FNDC1	159607210|159607210	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	9.751000|9.751000	0.98889|0.98889	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.458	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		32	54	0	0	0	1	0	32	54				
PHYHD1	254295	broad.mit.edu	37	9	131703819	131703819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131703819G>A	ENST00000372592.3	+	12	1732	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PHYHD1_ENST00000421063.2_Missense_Mutation_p.A246T|PHYHD1_ENST00000353176.5_Missense_Mutation_p.A246T|PHYHD1_ENST00000487504.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Silent_p.R21R|PHYHD1_ENST00000308941.5_Silent_p.R259R	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	267							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CCTCATGGAGGCCTCTGGCAC	0.627																																						ENST00000372592.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						c.(799-801)Gcc>Acc		phytanoyl-CoA dioxygenase domain containing 1							86.0	84.0	85.0					9																	131703819		2203	4300	6503	SO:0001583	missense	254295							g.chr9:131703819G>A	BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.799G>A	9.37:g.131703819G>A	ENSP00000361673:p.Ala267Thr					PHYHD1_ENST00000421063.2_Missense_Mutation_p.A246T|PHYHD1_ENST00000308941.5_Silent_p.R259R|PHYHD1_ENST00000353176.5_Missense_Mutation_p.A246T|PHYHD1_ENST00000487504.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Silent_p.R21R	p.A267T	NM_001100876.1	NP_001094346.1					12	1732	+								A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	37	c.799G>A	CCDS43885.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535288	0.27475	.	.	ENSG00000175287	ENST00000372592;ENST00000353176;ENST00000421063	D;D;D	0.91011	-2.77;-2.77;-2.77	5.29	2.13	0.27403	.	.	.	.	.	T	0.82125	0.4969	.	.	.	0.42913	D	0.99426	B;B	0.18863	0.031;0.025	B;B	0.18871	0.023;0.004	T	0.71377	-0.4611	8	0.21014	T	0.42	-12.3774	8.2482	0.31702	0.0813:0.0:0.5353:0.3834	.	246;267	Q5SRE7-2;Q5SRE7	.;PHYD1_HUMAN	T	267;246;246	ENSP00000361673:A267T;ENSP00000340945:A246T;ENSP00000409928:A246T	ENSP00000340945:A246T	A	+	1	0	PHYHD1	130743640	1.000000	0.71417	0.873000	0.34254	0.031000	0.12232	1.123000	0.31308	0.608000	0.30000	-0.379000	0.06801	GCC		0.627	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		7	89	0	0	0	1	0	7	89				
DHRS7C	201140	broad.mit.edu	37	17	9674949	9674949	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9674949G>A	ENST00000330255.5	-	6	807	c.795C>T	c.(793-795)acC>acT	p.T265T	DHRS7C_ENST00000571134.1_Silent_p.T264T	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	265					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCCTCCGCACGGTGCGCATCA	0.607																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(793-795)acC>acT		dehydrogenase/reductase (SDR family) member 7C							48.0	54.0	52.0					17																	9674949		2061	4190	6251	SO:0001819	synonymous_variant	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9674949G>A		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.795C>T	17.37:g.9674949G>A						DHRS7C_ENST00000571134.1_Silent_p.T264T	p.T265T	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			6	807	-			265					B7ZW74|B9EJH3	Silent	SNP	ENST00000330255.5	37	c.795C>T	CCDS56020.1																																																																																				0.607	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		4	3	0	0	0	1	0	4	3				
RPSAP52	204010	broad.mit.edu	37	12	66152554	66152554	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66152554A>G	ENST00000489520.2	-	0	389					NR_026825.2				ribosomal protein SA pseudogene 52																		GGAGGATATGACACTGACATC	0.498																																						ENST00000489520.2																			0																																																			0							g.chr12:66152554A>G			12q14.3	2010-09-24			ENSG00000241749	ENSG00000241749			35752	pseudogene	pseudogene						19123937	Standard	NR_026825		Approved		uc001sso.4		OTTHUMG00000157608		12.37:g.66152554A>G								NR_026825.2						0	389	-									RNA	SNP	ENST00000489520.2	37																																																																																						0.498	RPSAP52-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000349256.2	NG_006174		4	11	0	0	0	1	0	4	11				
CD28	940	broad.mit.edu	37	2	204599533	204599533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204599533G>A	ENST00000324106.8	+	4	710	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CD28_ENST00000374481.3_Silent_p.L103L|CD28_ENST00000374478.4_Silent_p.L68L|CD28_ENST00000458610.2_Silent_p.L201L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	187					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGCTCCTGCACAGTGACT	0.567																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(307-309)ctG>ctA		CD28 molecule							82.0	87.0	85.0					2																	204599533		2203	4300	6503	SO:0001819	synonymous_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204599533G>A	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.561G>A	2.37:g.204599533G>A						CD28_ENST00000374478.4_Silent_p.L68L|CD28_ENST00000458610.2_Silent_p.L201L|CD28_ENST00000324106.7_Silent_p.L187L	p.L103L			P10747	CD28_HUMAN			5	531	+			187			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Silent	SNP	ENST00000324106.8	37	c.309G>A	CCDS2361.1																																																																																				0.567	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		28	54	0	0	0	1	0	28	54				
OR6V1	346517	broad.mit.edu	37	7	142749947	142749947	+	Silent	SNP	C	C	T	rs374164296		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142749947C>T	ENST00000418316.1	+	1	531	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCATGGCGACGTCATCAACC	0.542																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(508-510)gaC>gaT		olfactory receptor, family 6, subfamily V, member 1		C		0,4240		0,0,2120	128.0	137.0	134.0		510	-0.2	0.0	7		134	3,8515		0,3,4256	no	coding-synonymous	OR6V1	NM_001001667.1		0,3,6376	TT,TC,CC		0.0352,0.0,0.0235		170/314	142749947	3,12755	2120	4259	6379	SO:0001819	synonymous_variant	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749947C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.510C>T	7.37:g.142749947C>T							p.D170D	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	531	+	Melanoma(164;0.059)		170					A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	c.510C>T	CCDS47728.1																																																																																				0.542	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			89	91	0	0	0	1	0	89	91				
CNOT7	29883	broad.mit.edu	37	8	17089983	17089983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17089983C>A	ENST00000361272.4	-	6	980	c.682G>T	c.(682-684)Gga>Tga	p.G228*	CNOT7_ENST00000523917.1_Nonsense_Mutation_p.G228*	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	228					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GAATCAGATCCTGCCTGATGT	0.398																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(682-684)Gga>Tga		CCR4-NOT transcription complex, subunit 7							199.0	195.0	196.0					8																	17089983		2203	4300	6503	SO:0001587	stop_gained	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17089983C>A	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.682G>T	8.37:g.17089983C>A	ENSP00000355279:p.Gly228*					CNOT7_ENST00000523917.1_Nonsense_Mutation_p.G228*	p.G228*	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	6	980	-			228					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Nonsense_Mutation	SNP	ENST00000361272.4	37	c.682G>T	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	C	38	7.207762	0.98136	.	.	ENSG00000198791	ENST00000361272;ENST00000523917	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.1084	19.6446	0.95771	0.0:1.0:0.0:0.0	.	.	.	.	X	228	.	ENSP00000355279:G228X	G	-	1	0	CNOT7	17134354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.814000	0.96858	0.591000	0.81541	GGA		0.398	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		38	85	1	0	2.00842e-17	1	2.60578e-17	38	85				
PLCG2	5336	broad.mit.edu	37	16	81954830	81954830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81954830G>A	ENST00000359376.3	+	21	2477	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	755					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTCTACGACGTCAGCAGAAT	0.428																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2263-2265)Gtc>Atc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							108.0	101.0	103.0					16																	81954830		1914	4132	6046	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81954830G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2263G>A	16.37:g.81954830G>A	ENSP00000352336:p.Val755Ile						p.V755I	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			21	2477	+			755					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2263G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268459	0.40095	.	.	ENSG00000197943	ENST00000359376	T	0.66099	-0.19	5.05	4.02	0.46733	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.423027	0.25596	N	0.029583	T	0.35770	0.0943	N	0.03608	-0.345	0.34588	D	0.715192	B;B	0.31837	0.019;0.342	B;B	0.22753	0.004;0.041	T	0.53208	-0.8471	10	0.44086	T	0.13	.	13.6024	0.62026	0.0:0.1551:0.8449:0.0	.	622;755	B4E3H3;P16885	.;PLCG2_HUMAN	I	755	ENSP00000352336:V755I	ENSP00000352336:V755I	V	+	1	0	PLCG2	80512331	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.015000	0.57152	2.496000	0.84212	0.467000	0.42956	GTC		0.428	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			21	44	0	0	0	1	0	21	44				
ZP1	22917	broad.mit.edu	37	11	60641122	60641122	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60641122C>T	ENST00000278853.5	+	9	1446	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	482	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTTTCAAGGGCGACAGCTACA	0.582																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1444-1446)ggC>ggT		zona pellucida glycoprotein 1 (sperm receptor)							136.0	140.0	139.0					11																	60641122		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60641122C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1446C>T	11.37:g.60641122C>T							p.G482G	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			9	1446	+			482			ZP.			Silent	SNP	ENST00000278853.5	37	c.1446C>T	CCDS31572.1																																																																																				0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		34	65	0	0	0	1	0	34	65				
PTF1A	256297	broad.mit.edu	37	10	23482768	23482768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23482768G>T	ENST00000376504.3	+	2	1124	c.920G>T	c.(919-921)aGa>aTa	p.R307I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	307					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GAGGACCCCAGAAAACTCAAC	0.453																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(919-921)aGa>aTa		pancreas specific transcription factor, 1a							111.0	127.0	121.0					10																	23482768		2203	4300	6503	SO:0001583	missense	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23482768G>T	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.920G>T	10.37:g.23482768G>T	ENSP00000365687:p.Arg307Ile						p.R307I	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			2	1124	+			307					Q9HC25	Missense_Mutation	SNP	ENST00000376504.3	37	c.920G>T	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413680	0.83449	.	.	ENSG00000168267	ENST00000376504	D	0.95724	-3.79	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97473	0.9173	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97665	1.0163	10	0.87932	D	0	-4.8288	19.9346	0.97133	0.0:0.0:1.0:0.0	.	307	Q7RTS3	PTF1A_HUMAN	I	307	ENSP00000365687:R307I	ENSP00000365687:R307I	R	+	2	0	PTF1A	23522774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.832000	0.99423	2.811000	0.96726	0.555000	0.69702	AGA		0.453	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		55	85	1	0	1.53716e-24	1	2.03966e-24	55	85				
KANSL1L	151050	broad.mit.edu	37	2	211018220	211018220	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211018220C>T	ENST00000281772.9	-	2	1350	c.1087G>A	c.(1087-1089)Gtt>Att	p.V363I	KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000452086.1_Splice_Site_p.V363I|KANSL1L_ENST00000418791.1_Splice_Site_p.V363I|KANSL1L_ENST00000457374.1_Splice_Site_p.V363I	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	363						histone acetyltransferase complex (GO:0000123)											TGCACTTACACTGCCACATTT	0.353																																						ENST00000281772.9																			0											c.e2+1		KAT8 regulatory NSL complex subunit 1-like							66.0	66.0	66.0					2																	211018220		2203	4300	6503	SO:0001630	splice_region_variant	151050							g.chr2:211018220C>T	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1088+1G>A	2.37:g.211018220C>T						KANSL1L_ENST00000452086.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000418791.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000457374.1_Splice_Site_p.V363_splice	p.V363_splice	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	1350	-			363					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Splice_Site	SNP	ENST00000281772.9	37	c.1088_splice	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.608917|3.608917	0.66558|0.66558	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000428655|ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.52532	.|D	.|0.000071	T|T	0.56673|0.56673	0.2001|0.2001	N|N	0.13043|0.13043	0.29|0.29	0.34539|0.34539	D|D	0.710023|0.710023	.|P;D;D;D	.|0.67145	.|0.891;0.987;0.994;0.996	.|P;P;D;D	.|0.76071	.|0.539;0.879;0.913;0.987	T|T	0.59037|0.59037	-0.7529|-0.7529	5|9	.|0.20046	.|T	.|0.44	.|.	18.5594|18.5594	0.91095|0.91095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|363;363;363;363	.|A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.|.;.;.;CB067_HUMAN	N|I	57|363	.|.	.|ENSP00000281772:V363I	S|V	-|-	2|1	0|0	C2orf67|C2orf67	210726465|210726465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.682000|3.682000	0.54656|0.54656	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	AGT|GTT		0.353	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	Missense_Mutation	4	76	0	0	0	1	0	4	76				
LINC00842	643650	broad.mit.edu	37	10	47133418	47133418	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47133418C>A	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		AAGTATAGGCCTCCATTGCCA	0.448																																						ENST00000422732.2																			0																																																			0							g.chr10:47133418C>A			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47133418C>A								NR_033957.1						0	435	-									RNA	SNP	ENST00000422732.2	37																																																																																						0.448	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		7	120	1	0	0.307466	1	0.308846	7	120				
RASGRF1	5923	broad.mit.edu	37	15	79339118	79339118	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79339118T>C	ENST00000419573.3	-	5	1122	c.848A>G	c.(847-849)cAc>cGc	p.H283R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H283R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	283	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACGTCGTCGTGTGTGATGGG	0.582																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(847-849)cAc>cGc		Ras protein-specific guanine nucleotide-releasing factor 1							190.0	151.0	164.0					15																	79339118		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79339118T>C	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.848A>G	15.37:g.79339118T>C	ENSP00000405963:p.His283Arg					RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H283R	p.H283R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			5	1122	-			283			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.848A>G	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057844	0.55325	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.61859	0.07	4.03	4.03	0.46877	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.994	T	0.75230	-0.3391	10	0.72032	D	0.01	.	10.9558	0.47356	0.0:0.0:0.0:1.0	.	283;283;283;283	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	R	283	ENSP00000405963:H283R	ENSP00000378224:H283R	H	-	2	0	RASGRF1	77126173	1.000000	0.71417	0.719000	0.30619	0.362000	0.29581	7.645000	0.83430	1.684000	0.51022	0.533000	0.62120	CAC		0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		28	52	0	0	0	1	0	28	52				
SHANK2	22941	broad.mit.edu	37	11	70333218	70333218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70333218C>T	ENST00000423696.2	-	15	2079	c.2043G>A	c.(2041-2043)ccG>ccA	p.P681P	SHANK2_ENST00000409161.1_Silent_p.P464P|SHANK2_ENST00000338508.4_Silent_p.P1061P|SHANK2_ENST00000449833.2_Silent_p.P465P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	681					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGTGGCTCCGGGGCCTGGG	0.692																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3181-3183)ccG>ccA		SH3 and multiple ankyrin repeat domains 2							34.0	39.0	37.0					11																	70333218		2196	4279	6475	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333218C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2043G>A	11.37:g.70333218C>T						SHANK2_ENST00000423696.2_Silent_p.P681P|SHANK2_ENST00000449833.2_Silent_p.P465P|SHANK2_ENST00000409161.1_Silent_p.P464P	p.P1061P			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3182	-			681					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3183G>A																																																																																					0.692	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		21	36	0	0	0	1	0	21	36				
FLNA	2316	broad.mit.edu	37	X	153588193	153588193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153588193G>A	ENST00000369850.3	-	23	4122	c.3886C>T	c.(3886-3888)Cgt>Tgt	p.R1296C	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.R1296C|FLNA_ENST00000344736.4_Missense_Mutation_p.R1296C|FLNA_ENST00000360319.4_Missense_Mutation_p.R1296C	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1296					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGCCACACGGGCCTTGACG	0.622																																						ENST00000422373.1																			0				breast(6)	6						c.(3886-3888)Cgt>Tgt		filamin A, alpha							50.0	51.0	51.0					X																	153588193		2093	4179	6272	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588193G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3886C>T	X.37:g.153588193G>A	ENSP00000358866:p.Arg1296Cys					FLNA_ENST00000344736.4_Missense_Mutation_p.R1296C|FLNA_ENST00000360319.4_Missense_Mutation_p.R1296C|FLNA_ENST00000369850.3_Missense_Mutation_p.R1296C	p.R1296C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			23	4134	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1296					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3886C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652544	0.29336	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.26	5.26	0.73747	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.175405	0.38005	N	0.001853	T	0.81211	0.4775	L	0.41573	1.285	0.42835	D	0.994038	B;B	0.14012	0.003;0.009	B;B	0.13407	0.005;0.009	T	0.77648	-0.2509	10	0.52906	T	0.07	.	9.6403	0.39835	0.0:0.1492:0.6934:0.1573	.	1296;1296	P21333-2;P21333	.;FLNA_HUMAN	C	1296;1269;1296;1296;1296	ENSP00000353467:R1296C;ENSP00000416926:R1296C;ENSP00000358866:R1296C;ENSP00000358863:R1296C	ENSP00000358863:R1296C	R	-	1	0	FLNA	153241387	0.177000	0.23109	0.974000	0.42286	0.980000	0.70556	2.940000	0.49003	2.192000	0.70111	0.600000	0.82982	CGT		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	49	0	0	0	1	0	9	49				
LRRCC1	85444	broad.mit.edu	37	8	86021909	86021909	+	Missense_Mutation	SNP	G	G	A	rs191037362	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86021909G>A	ENST00000360375.3	+	2	333	c.184G>A	c.(184-186)Gat>Aat	p.D62N	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D42N	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	62					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CGAAGCCATTGATCATATTTG	0.308																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(124-126)Gat>Aat		leucine rich repeat and coiled-coil centrosomal protein 1							63.0	56.0	58.0					8																	86021909		1837	4087	5924	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86021909G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.184G>A	8.37:g.86021909G>A	ENSP00000353538:p.Asp62Asn					LRRCC1_ENST00000360375.3_Missense_Mutation_p.D62N	p.D42N			Q9C099	LRCC1_HUMAN			1	1013	+			62					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.124G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608447	0.28623	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.24151	1.87;1.87	5.79	4.83	0.62350	.	0.000000	0.42294	D	0.000730	T	0.31327	0.0793	L	0.39692	1.235	0.23473	N	0.997606	P;B	0.52316	0.952;0.224	P;B	0.49276	0.605;0.051	T	0.09228	-1.0684	10	0.42905	T	0.14	-10.4528	17.5652	0.87918	0.0:0.0:0.868:0.132	.	42;62	Q9C099-2;Q9C099	.;LRCC1_HUMAN	N	62;42	ENSP00000353538:D62N;ENSP00000394695:D42N	ENSP00000353538:D62N	D	+	1	0	LRRCC1	86209161	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.221000	0.65272	2.731000	0.93534	0.591000	0.81541	GAT		0.308	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		4	24	0	0	0	1	0	4	24				
CGRRF1	10668	broad.mit.edu	37	14	54996915	54996915	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:54996915T>C	ENST00000216420.7	+	3	525	c.393T>C	c.(391-393)taT>taC	p.Y131Y	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	131					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Y131*(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATGCTCTGTATAGTGAATATC	0.373																																						ENST00000216420.7																			1	Substitution - Nonsense(1)	p.Y131*(1)	endometrium(1)	endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(391-393)taT>taC		cell growth regulator with ring finger domain 1							59.0	59.0	59.0					14																	54996915		2202	4300	6502	SO:0001819	synonymous_variant	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:54996915T>C	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.393T>C	14.37:g.54996915T>C						CGRRF1_ENST00000557512.1_3'UTR	p.Y131Y	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			3	525	+			131					Q96BX2	Silent	SNP	ENST00000216420.7	37	c.393T>C	CCDS9719.1																																																																																				0.373	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		29	44	0	0	0	1	0	29	44				
TTC3	7267	broad.mit.edu	37	21	38560897	38560897	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38560897G>A	ENST00000399017.2	+	39	7771		c.e39+1		TTC3_ENST00000479930.1_Splice_Site|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGATTAGCCGGTATTGCAGTT	0.393																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.e39+1		tetratricopeptide repeat domain 3							70.0	61.0	64.0					21																	38560897		2203	4300	6503	SO:0001630	splice_region_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38560897G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5024+1G>A	21.37:g.38560897G>A						TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_Splice_Site		NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			39	7771	+		Myeloproliferative disorder(46;0.0412)						A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Splice_Site	SNP	ENST00000399017.2	37		CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549332	0.27652	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6244	0.68611	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC3	37482767	1.000000	0.71417	0.987000	0.45799	0.028000	0.11728	5.147000	0.64851	2.523000	0.85059	0.655000	0.94253	.		0.393	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		Intron	10	25	0	0	0	1	0	10	25				
UGT3A1	133688	broad.mit.edu	37	5	35965820	35965820	+	Missense_Mutation	SNP	C	C	T	rs141076093		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35965820C>T	ENST00000274278.3	-	4	868	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	UGT3A1_ENST00000333811.4_Missense_Mutation_p.G117S|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G171S|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G137S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	171						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAAGAGCCGAATGTGGTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		16306	0.001		0.0	False		,,,				2504	0.0					ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(511-513)Ggc>Agc		UDP glycosyltransferase 3 family, polypeptide A1		C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	75.0	72.0	73.0		349,511	0.1	0.0	5	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense	UGT3A1	NM_001171873.1,NM_152404.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	117/253,171/524	35965820	1,13005	2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965820C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.511G>A	5.37:g.35965820C>T	ENSP00000274278:p.Gly171Ser					UGT3A1_ENST00000503189.1_Missense_Mutation_p.G171S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G137S|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G117S	p.G171S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	868	-	all_lung(31;0.000197)		171					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.511G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313902	0.23908	2.27E-4	0.0	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	3.14	0.143	0.14820	.	7739.210000	0.00166	N	0.000000	T	0.38241	0.1033	N	0.16098	0.37	0.09310	N	1	P;B;B;B	0.46656	0.882;0.083;0.172;0.016	B;B;B;B	0.36289	0.221;0.036;0.019;0.01	T	0.40905	-0.9538	10	0.51188	T	0.08	.	6.9037	0.24297	0.0:0.5479:0.0:0.4521	.	137;171;117;171	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	S	171;171;137;117	ENSP00000274278:G171S;ENSP00000427079:G171S;ENSP00000426100:G137S;ENSP00000328033:G117S	ENSP00000274278:G171S	G	-	1	0	UGT3A1	36001577	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.624000	0.05540	0.119000	0.18210	0.313000	0.20887	GGC		0.443	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		25	31	0	0	0	1	0	25	31				
CLIP2	7461	broad.mit.edu	37	7	73790597	73790597	+	Silent	SNP	G	G	A	rs187336145	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73790597G>A	ENST00000395060.1	+	9	1866	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	CLIP2_ENST00000361545.5_Silent_p.S587S|CLIP2_ENST00000223398.6_Silent_p.S622S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	622						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGCTGGCCTCGGACCACCAGA	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		18479	0.002		0.0	False		,,,				2504	0.0					ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1864-1866)tcG>tcA		CAP-GLY domain containing linker protein 2		G	,	0,4406		0,0,2203	56.0	52.0	53.0		1866,1761	-10.3	0.9	7		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLIP2	NM_003388.4,NM_032421.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	622/1047,587/1012	73790597	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73790597G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1866G>A	7.37:g.73790597G>A						CLIP2_ENST00000361545.5_Silent_p.S587S|CLIP2_ENST00000395060.1_Silent_p.S622S	p.S622S	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			10	2193	+			622					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.1866G>A	CCDS5569.1																																																																																				0.622	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		14	42	0	0	0	1	0	14	42				
ARID2	196528	broad.mit.edu	37	12	46245654	46245654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245654G>A	ENST00000334344.6	+	15	3920	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	ARID2_ENST00000422737.1_Missense_Mutation_p.A1101T|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.A860T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1250					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAGGAGGAAGCAAAGGAAGC	0.468			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3748-3750)Gca>Aca		AT rich interactive domain 2 (ARID, RFX-like)							74.0	69.0	71.0					12																	46245654		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245654G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3748G>A	12.37:g.46245654G>A	ENSP00000335044:p.Ala1250Thr					ARID2_ENST00000444670.1_Missense_Mutation_p.A860T|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.A1101T	p.A1250T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3920	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1250					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3748G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117315	0.77323	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.55052	0.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.66156	-0.5994	10	0.72032	D	0.01	-13.7789	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1250;860;1250	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	T	1250;367;367;1101;860	ENSP00000335044:A1250T	ENSP00000335044:A1250T	A	+	1	0	ARID2	44531921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.188000	0.94921	2.941000	0.99782	0.655000	0.94253	GCA		0.468	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		14	25	0	0	0	1	0	14	25				
CCDC80	151887	broad.mit.edu	37	3	112337934	112337934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112337934G>A	ENST00000206423.3	-	4	3006	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.R685*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	685					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCACCACTCGCATGGGCTTC	0.463																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2053-2055)Cga>Tga		coiled-coil domain containing 80							84.0	74.0	78.0					3																	112337934		2203	4300	6503	SO:0001587	stop_gained	151887							g.chr3:112337934G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2053C>T	3.37:g.112337934G>A	ENSP00000206423:p.Arg685*					CCDC80_ENST00000439685.2_Nonsense_Mutation_p.R685*	p.R685*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			4	3006	-			685					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Nonsense_Mutation	SNP	ENST00000206423.3	37	c.2053C>T	CCDS2968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.221863|5.221863	0.95139|0.95139	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000461431|ENST00000206423;ENST00000439685;ENST00000444594	.|.	.|.	.|.	5.63|5.63	3.53|3.53	0.40419|0.40419	.|.	.|0.198611	.|0.44285	.|D	.|0.000472	T|.	0.26774|.	0.0655|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29150|.	-1.0021|.	3|.	.|0.02654	.|T	.|1	-4.4599|-4.4599	12.2274|12.2274	0.54468|0.54468	0.0:0.0:0.4412:0.5588|0.0:0.0:0.4412:0.5588	.|.	.|.	.|.	.|.	V|X	82|685;685;313	.|.	.|ENSP00000206423:R685X	A|R	-|-	2|1	0|2	CCDC80|CCDC80	113820624|113820624	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.926000|0.926000	0.56050|0.56050	4.401000|4.401000	0.59716|0.59716	1.462000|1.462000	0.47948|0.47948	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.463	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		6	36	0	0	0	1	0	6	36				
JMJD1C	221037	broad.mit.edu	37	10	64973474	64973474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64973474G>T	ENST00000399262.2	-	8	2671	c.2453C>A	c.(2452-2454)gCt>gAt	p.A818D	JMJD1C_ENST00000402544.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A636D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	818					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGGCATGAGCACTCTCTAG	0.527																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2452-2454)gCt>gAt		jumonji domain containing 1C							73.0	72.0	72.0					10																	64973474		2134	4252	6386	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973474G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2453C>A	10.37:g.64973474G>T	ENSP00000382204:p.Ala818Asp					JMJD1C_ENST00000402544.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A636D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A599D	p.A818D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2671	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		818					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.2453C>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019249	0.75275	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.77	5.77	0.91146	.	0.115302	0.64402	D	0.000015	T	0.71550	0.3353	L	0.57536	1.79	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.71800	-0.4483	10	0.66056	D	0.02	-15.4062	19.9837	0.97340	0.0:0.0:1.0:0.0	.	818;636	Q15652;A0T124	JHD2C_HUMAN;.	D	818;599;599;636	ENSP00000382204:A818D;ENSP00000384990:A599D;ENSP00000382195:A599D;ENSP00000444682:A636D	ENSP00000382195:A599D	A	-	2	0	JMJD1C	64643480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.307000	0.65762	2.723000	0.93209	0.655000	0.94253	GCT		0.527	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		18	14	1	0	3.41278e-10	1	4.19267e-10	18	14				
AVPI1	60370	broad.mit.edu	37	10	99439405	99439405	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99439405G>A	ENST00000370626.3	-	2	825	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	86					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTAGCGAGTGGCCCAGGGGTT	0.617																																						ENST00000370626.3																			0				breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5						c.(256-258)ggC>ggT		arginine vasopressin-induced 1							34.0	28.0	30.0					10																	99439405		2203	4300	6503	SO:0001819	synonymous_variant	60370				cell cycle			g.chr10:99439405G>A	AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.258C>T	10.37:g.99439405G>A							p.G86G	NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)	2	825	-		Colorectal(252;0.162)	86					Q53G32|Q9H2R9|Q9HBN9	Silent	SNP	ENST00000370626.3	37	c.258C>T	CCDS7470.1																																																																																				0.617	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049736.1	NM_021732		8	13	0	0	0	1	0	8	13				
FADS3	3995	broad.mit.edu	37	11	61646218	61646218	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61646218C>A	ENST00000278829.2	-	4	776	c.624G>T	c.(622-624)aaG>aaT	p.K208N	FADS3_ENST00000525588.1_Splice_Site_p.K180N|FADS3_ENST00000527697.1_Splice_Site_p.K84N|FADS3_ENST00000540820.1_Splice_Site_p.K208N	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	208					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCCTCACCTTTAGCTGCC	0.642																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e4+1		fatty acid desaturase 3							77.0	64.0	68.0					11																	61646218		2202	4299	6501	SO:0001630	splice_region_variant	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61646218C>A		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.624+1G>T	11.37:g.61646218C>A						FADS3_ENST00000525588.1_Splice_Site_p.K180_splice|FADS3_ENST00000278829.2_Splice_Site_p.K208_splice|FADS3_ENST00000527697.1_Splice_Site_p.K84_splice	p.K208_splice			Q9Y5Q0	FADS3_HUMAN			4	696	-			208					O60426	Splice_Site	SNP	ENST00000278829.2	37	c.624_splice	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311482	0.81358	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36	5.39	4.46	0.54185	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.42630	0.1211	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.38628	-0.9652	9	0.27082	T	0.32	-12.441	11.9828	0.53129	0.0:0.9139:0.0:0.0861	.	84;208	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	N	84;208;208;180;84;84	ENSP00000431533:K84N;ENSP00000278829:K208N;ENSP00000439308:K208N;ENSP00000432206:K180N;ENSP00000436890:K84N;ENSP00000434551:K84N	ENSP00000278829:K208N	K	-	3	2	FADS3	61402794	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.228000	0.58619	1.230000	0.43646	0.561000	0.74099	AAG		0.642	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1		Missense_Mutation	12	15	1	0	3.27435e-08	1	3.90559e-08	12	15				
ABCA6	23460	broad.mit.edu	37	17	67107013	67107013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67107013G>A	ENST00000284425.2	-	17	2375	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	734					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTTAATTTAGCATCGGGGAT	0.303																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2200-2202)gCt>gTt		ATP-binding cassette, sub-family A (ABC1), member 6							90.0	90.0	90.0					17																	67107013		2202	4298	6500	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67107013G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2201C>T	17.37:g.67107013G>A	ENSP00000284425:p.Ala734Val						p.A734V	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			17	2375	-	Breast(10;5.65e-12)		734					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2201C>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720641	0.68959	.	.	ENSG00000154262	ENST00000284425	D	0.86497	-2.13	5.06	5.06	0.68205	.	0.000000	0.49916	D	0.000131	D	0.93494	0.7924	M	0.86953	2.85	0.80722	D	1	D	0.65815	0.995	P	0.61003	0.882	D	0.94130	0.7387	10	0.59425	D	0.04	.	17.5863	0.87982	0.0:0.0:1.0:0.0	.	734	Q8N139	ABCA6_HUMAN	V	734	ENSP00000284425:A734V	ENSP00000284425:A734V	A	-	2	0	ABCA6	64618608	1.000000	0.71417	0.983000	0.44433	0.231000	0.25187	4.362000	0.59467	2.610000	0.88304	0.557000	0.71058	GCT		0.303	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		12	25	0	0	0	1	0	12	25				
LZTS1	11178	broad.mit.edu	37	8	20110545	20110545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110545C>T	ENST00000381569.1	-	3	1254	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_ENST00000522290.1_Silent_p.P299P|LZTS1_ENST00000265801.6_Silent_p.P299P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	299					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(895-897)ccG>ccA		leucine zipper, putative tumor suppressor 1							28.0	28.0	28.0					8																	20110545		2200	4289	6489	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110545C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.897G>A	8.37:g.20110545C>T						LZTS1_ENST00000265801.6_Silent_p.P299P|LZTS1_ENST00000522290.1_Silent_p.P299P	p.P299P			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1254	-			299					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.897G>A	CCDS6015.1																																																																																				0.682	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		16	23	0	0	0	1	0	16	23				
TMEM67	91147	broad.mit.edu	37	8	94793134	94793134	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94793134A>G	ENST00000453321.3	+	9	960	c.902A>G	c.(901-903)gAc>gGc	p.D301G	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.D220G	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	301					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTTATGGAGACCAGTTAGGA	0.318																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(901-903)gAc>gGc		transmembrane protein 67							117.0	123.0	121.0					8																	94793134		2203	4299	6502	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94793134A>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.902A>G	8.37:g.94793134A>G	ENSP00000389998:p.Asp301Gly					TMEM67_ENST00000409623.3_Missense_Mutation_p.D220G|TMEM67_ENST00000425545.2_3'UTR	p.D301G	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		9	960	+	Breast(36;4.14e-07)		301					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.902A>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313765	0.60414	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97041	-4.22;-4.22;-4.22	5.94	4.77	0.60923	.	0.258207	0.42821	D	0.000647	D	0.95262	0.8463	L	0.46157	1.445	0.58432	D	0.999999	B;P	0.36959	0.437;0.575	B;B	0.40066	0.304;0.318	D	0.93909	0.7195	10	0.56958	D	0.05	-7.8411	12.4278	0.55557	0.874:0.0:0.0:0.126	.	301;220	Q5HYA8;G5E9H2	MKS3_HUMAN;.	G	198;301;220	ENSP00000388671:D198G;ENSP00000389998:D301G;ENSP00000386966:D220G	ENSP00000314488:D291G	D	+	2	0	TMEM67	94862310	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	8.653000	0.91088	1.040000	0.40099	0.528000	0.53228	GAC		0.318	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		54	98	0	0	0	1	0	54	98				
PABPC1	26986	broad.mit.edu	37	8	101724669	101724669	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724669A>G	ENST00000318607.5	-	7	2021	c.893T>C	c.(892-894)gTg>gCg	p.V298A	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.V253A|PABPC1_ENST00000522387.1_Missense_Mutation_p.V266A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	298	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGATTTTTCACATAAAGATT	0.333																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(892-894)gTg>gCg		poly(A) binding protein, cytoplasmic 1							108.0	115.0	113.0					8																	101724669		2202	4297	6499	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724669A>G	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.893T>C	8.37:g.101724669A>G	ENSP00000313007:p.Val298Ala					PABPC1_ENST00000519004.1_Missense_Mutation_p.V253A|PABPC1_ENST00000522387.1_Missense_Mutation_p.V266A|PABPC1_ENST00000519596.1_5'UTR	p.V298A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		7	2021	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		298			RRM 4.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.893T>C	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.804975|4.804975	0.90623|0.90623	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	T;T;T|.	0.36157|.	1.27;1.27;1.27|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.52532|.	D|.	0.000061|.	D|.	0.84701|.	0.5530|.	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	D;P;D|.	0.59357|.	0.985;0.929;0.97|.	P;P;P|.	0.62435|.	0.902;0.733;0.733|.	D|.	0.88074|.	0.2802|.	10|.	0.87932|.	D|.	0|.	.|.	16.1726|16.1726	0.81828|0.81828	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	266;298;298|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	A|R	298;298;253;266|167	ENSP00000313007:V298A;ENSP00000429594:V253A;ENSP00000429395:V266A|.	ENSP00000313007:V298A|.	V|X	-|-	2|1	0|0	PABPC1|PABPC1	101793845|101793845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.253000|9.253000	0.95501|0.95501	2.278000|2.278000	0.76064|0.76064	0.533000|0.533000	0.62120|0.62120	GTG|TGA		0.333	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		5	174	0	0	0	1	0	5	174				
SIPA1	6494	broad.mit.edu	37	11	65413705	65413705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65413705G>A	ENST00000394224.3	+	7	1573	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.R426H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R426H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R426H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	426	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTCCGGAAGCGCCACATTGGC	0.587																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1276-1278)cGc>cAc		signal-induced proliferation-associated 1							135.0	133.0	134.0					11																	65413705		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413705G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1277G>A	11.37:g.65413705G>A	ENSP00000377771:p.Arg426His					SIPA1_ENST00000534313.1_Missense_Mutation_p.R426H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R426H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R426H	p.R426H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			7	1573	+			426			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1277G>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411685	0.83340	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	4.03	4.03	0.46877	Rap/ran-GAP (2);	0.000000	0.49916	U	0.000140	D	0.98842	0.9609	H	0.98577	4.27	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.85130	0.917;0.997	D	0.98886	1.0771	10	0.87932	D	0	-18.7501	14.0667	0.64834	0.0:0.0:1.0:0.0	.	426;426	F6RY50;Q96FS4	.;SIPA1_HUMAN	H	426	ENSP00000436269:R426H;ENSP00000433686:R426H;ENSP00000377771:R426H;ENSP00000377774:R426H	ENSP00000377771:R426H	R	+	2	0	SIPA1	65170281	1.000000	0.71417	0.978000	0.43139	0.633000	0.38033	9.416000	0.97383	2.260000	0.74910	0.462000	0.41574	CGC		0.587	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		44	32	0	0	0	1	0	44	32				
DPYD	1806	broad.mit.edu	37	1	98186449	98186449	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98186449A>G	ENST00000306031.5	-	6	643	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Intron|DPYD_ENST00000370192.3_Intron	NM_001160301.1	NP_001153773	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	0					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGTCTTTACAAATGATTCATT	0.338																																						ENST00000306031.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(517-519)Ttg>Ctg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						72.0	71.0	72.0					1																	98186449		1567	3582	5149	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98186449A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000306031.5:c.517T>C	1.37:g.98186449A>G						DPYD_ENST00000370192.3_Intron|DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Intron	p.L173L	NM_001160301.1	NP_001153773.1	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	6	643	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	0					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000306031.5	37	c.517T>C	CCDS53346.1																																																																																				0.338	DPYD-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095699.2	NM_000110		3	26	0	0	0	1	0	3	26				
PPHLN1	51535	broad.mit.edu	37	12	42729702	42729702	+	5'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729702G>A	ENST00000395568.2	+	0	82				PPHLN1_ENST00000549190.1_Missense_Mutation_p.E18K|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E7K|PPHLN1_ENST00000449194.2_5'UTR|PPHLN1_ENST00000358314.7_5'UTR|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E7K|PPHLN1_ENST00000432191.2_5'UTR|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E7K|PPHLN1_ENST00000337898.6_5'UTR|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1						keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CAGAAGAGACGAAATGTGGTC	0.368																																						ENST00000549190.1																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(52-54)Gaa>Aaa		periphilin 1							117.0	121.0	119.0					12																	42729702		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42729702G>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.-3G>A	12.37:g.42729702G>A						PPHLN1_ENST00000432191.2_5'UTR|PPHLN1_ENST00000449194.2_5'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_5'UTR|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E7K|PPHLN1_ENST00000337898.6_5'UTR|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E7K|PPHLN1_ENST00000395568.2_5'UTR|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E7K	p.E18K			Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	2	233	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	0					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.52G>A	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913446	0.52439	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000552761;ENST00000317560;ENST00000546750	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.42743	0.1216	L	0.27053	0.805	0.80722	D	1	D;D;P;D;D	0.60160	0.987;0.976;0.935;0.976;0.987	P;P;B;P;P	0.45428	0.48;0.48;0.364;0.48;0.48	T	0.12243	-1.0555	8	0.21014	T	0.42	.	14.731	0.69383	0.0:0.0:1.0:0.0	.	7;7;7;7;18	F8WF16;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.	K	18;7;7;7;7	.	ENSP00000322048:E7K	E	+	1	0	PPHLN1	41015969	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.076000	0.64413	2.937000	0.99478	0.650000	0.86243	GAA		0.368	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		26	46	0	0	0	1	0	26	46				
FNDC3B	64778	broad.mit.edu	37	3	172065003	172065003	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172065003G>T	ENST00000336824.4	+	21	2465	c.2366G>T	c.(2365-2367)aGt>aTt	p.S789I	FNDC3B_ENST00000416957.1_Splice_Site_p.S789I|FNDC3B_ENST00000415807.2_Splice_Site_p.S789I	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	789	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTTCCAGAGTCCTGATAGT	0.413																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.e21-1		fibronectin type III domain containing 3B							119.0	120.0	119.0					3																	172065003		2203	4300	6503	SO:0001630	splice_region_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172065003G>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2365-1G>T	3.37:g.172065003G>T						FNDC3B_ENST00000415807.2_Splice_Site_p.S789_splice|FNDC3B_ENST00000416957.1_Splice_Site_p.S789_splice	p.S789_splice	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	21	2465	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		789			Fibronectin type-III 6.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Splice_Site	SNP	ENST00000336824.4	37	c.2364_splice	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438667	0.25900	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57107	0.42;0.42;0.42	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.188119	0.64402	D	0.000002	T	0.41880	0.1178	L	0.34521	1.04	0.80722	D	1	B	0.11235	0.004	B	0.19666	0.026	T	0.21999	-1.0229	10	0.36615	T	0.2	-21.3172	10.8157	0.46573	0.1393:0.0:0.8607:0.0	.	789	Q53EP0	FND3B_HUMAN	I	789	ENSP00000411242:S789I;ENSP00000338523:S789I;ENSP00000389094:S789I	ENSP00000338523:S789I	S	+	2	0	FNDC3B	173547697	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.240000	0.65378	2.861000	0.98227	0.655000	0.94253	AGT		0.413	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	Missense_Mutation	35	64	1	0	2.40579e-17	1	3.11917e-17	35	64				
AIG1	51390	broad.mit.edu	37	6	143654485	143654485	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143654485A>G	ENST00000275235.4	+	5	607	c.582A>G	c.(580-582)ggA>ggG	p.G194G	AIG1_ENST00000344492.5_Silent_p.G142G|AIG1_ENST00000357847.4_Silent_p.G194G			Q9NVV5	AIG1_HUMAN	androgen-induced 1	194						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TTGGCCCAGGAGCCAGAATCA	0.468																																						ENST00000357847.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(580-582)ggA>ggG		androgen-induced 1							193.0	185.0	188.0					6																	143654485		2203	4300	6503	SO:0001819	synonymous_variant	51390					integral to membrane		g.chr6:143654485A>G	AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.582A>G	6.37:g.143654485A>G						AIG1_ENST00000275235.4_Silent_p.G194G|AIG1_ENST00000344492.5_Silent_p.G142G	p.G194G	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)	5	632	+			194					B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Silent	SNP	ENST00000275235.4	37	c.582A>G																																																																																					0.468	AIG1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000042510.1	NM_016108		89	85	0	0	0	1	0	89	85				
IRX1	79192	broad.mit.edu	37	5	3596444	3596444	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:3596444C>A	ENST00000302006.3	+	1	277	c.225C>A	c.(223-225)aaC>aaA	p.N75K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	75					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCGCGCCCAACTACAGCGCCT	0.746																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(223-225)aaC>aaA		iroquois homeobox 1							8.0	10.0	9.0					5																	3596444		1891	3872	5763	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3596444C>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.225C>A	5.37:g.3596444C>A	ENSP00000305244:p.Asn75Lys					CTD-2012M11.3_ENST00000559410.1_RNA	p.N75K	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			1	277	+			75					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.225C>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886507	0.72410	.	.	ENSG00000170549	ENST00000302006	T	0.58506	0.33	2.56	2.56	0.30785	.	0.000000	0.85682	U	0.000000	T	0.64627	0.2615	M	0.68952	2.095	0.58432	D	0.999999	D	0.57257	0.979	P	0.56088	0.791	T	0.63314	-0.6665	10	0.20519	T	0.43	.	13.1304	0.59377	0.0:1.0:0.0:0.0	.	75	P78414	IRX1_HUMAN	K	75	ENSP00000305244:N75K	ENSP00000305244:N75K	N	+	3	2	IRX1	3649444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.971000	0.40530	1.415000	0.47037	0.485000	0.47835	AAC		0.746	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		4	7	1	0	0.150653	1	0.152692	4	7				
TCTEX1D2	255758	broad.mit.edu	37	3	196043050	196043050	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196043050G>A	ENST00000325318.5	-	2	301	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_3'UTR|RP11-447L10.1_ENST00000431391.1_Silent_p.L56L|TM4SF19-AS1_ENST00000452051.1_RNA	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	56										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCATTTGCCAGTTCCTCCTTG	0.403																																						ENST00000325318.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7						c.(166-168)Ctg>Ttg		Tctex1 domain containing 2							129.0	117.0	121.0					3																	196043050		2203	4300	6503	SO:0001819	synonymous_variant	255758						protein binding	g.chr3:196043050G>A	BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.166C>T	3.37:g.196043050G>A							p.L56L	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	301	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		56					A6NCN5	Silent	SNP	ENST00000325318.5	37	c.166C>T	CCDS33929.1																																																																																				0.403	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341166.1	NM_152773		19	19	0	0	0	1	0	19	19				
NANS	54187	broad.mit.edu	37	9	100843121	100843121	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100843121C>T	ENST00000210444.5	+	5	697	c.627C>T	c.(625-627)gaC>gaT	p.D209D	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCTTTCCTGACATTCCCATAG	0.428																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(625-627)gaC>gaT		N-acetylneuraminic acid synthase							70.0	72.0	71.0					9																	100843121		2203	4300	6503	SO:0001819	synonymous_variant	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100843121C>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.627C>T	9.37:g.100843121C>T						TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	p.D209D	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			5	697	+		Acute lymphoblastic leukemia(62;0.0559)	209					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	ENST00000210444.5	37	c.627C>T	CCDS6733.1																																																																																				0.428	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		7	115	0	0	0	1	0	7	115				
MAN1A1	4121	broad.mit.edu	37	6	119501064	119501064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119501064G>A	ENST00000368468.3	-	13	2323	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	628					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAGATCCAATGCTCCAGTGGA	0.378																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1882-1884)Cat>Tat		mannosidase, alpha, class 1A, member 1							102.0	103.0	103.0					6																	119501064		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119501064G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1882C>T	6.37:g.119501064G>A	ENSP00000357453:p.His628Tyr						p.H628Y	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	13	2323	-		all_epithelial(87;0.173)	628					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1882C>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119249	0.77323	.	.	ENSG00000111885	ENST00000368468	T	0.71817	-0.6	5.91	5.04	0.67666	.	0.045726	0.85682	N	0.000000	T	0.72028	0.3410	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.76658	-0.2878	10	0.66056	D	0.02	-24.0693	15.1803	0.72952	0.0675:0.0:0.9325:0.0	.	628	P33908	MA1A1_HUMAN	Y	628	ENSP00000357453:H628Y	ENSP00000357453:H628Y	H	-	1	0	MAN1A1	119542763	1.000000	0.71417	0.974000	0.42286	0.925000	0.55904	5.092000	0.64511	1.512000	0.48834	0.650000	0.86243	CAT		0.378	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		25	46	0	0	0	1	0	25	46				
SEMA4D	10507	broad.mit.edu	37	9	91978850	91978850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91978850C>T	ENST00000420987.1	-	18	2344	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	SEMA4D_ENST00000339861.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000420101.2_Missense_Mutation_p.R18H|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R633H	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0	Ig-like C2-type.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCAGACAAAGCGAATGTCTGC	0.597																																						ENST00000420987.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1897-1899)cGc>cAc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							83.0	80.0	81.0					9																	91978850		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91978850C>T	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000420987.1:c.1898G>A	9.37:g.91978850C>T	ENSP00000391733:p.Arg633His					SEMA4D_ENST00000455551.2_Missense_Mutation_p.R633H|SEMA4D_ENST00000420101.2_Missense_Mutation_p.R18H|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000469653.1_5'UTR	p.R633H	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN			18	2344	-			0			Ig-like C2-type.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000420987.1	37	c.1898G>A	CCDS47991.1	.	.	.	.	.	.	.	.	.	.	C	3.053	-0.194879	0.06259	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000420101;ENST00000455551;ENST00000343780	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.05	-5.49	0.02584	.	0.468991	0.19129	N	0.121973	T	0.05456	0.0144	.	.	.	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.35699	-0.9778	9	0.05959	T	0.93	.	16.7205	0.85409	0.0:0.1199:0.0:0.8801	.	633	Q92854-2	.	H	633;633;18;633;633	ENSP00000344923:R633H;ENSP00000391733:R633H;ENSP00000411981:R633H;ENSP00000343418:R633H	ENSP00000344923:R633H	R	-	2	0	SEMA4D	91168670	0.000000	0.05858	0.000000	0.03702	0.659000	0.38960	-1.612000	0.02061	-0.956000	0.03631	0.462000	0.41574	CGC		0.597	SEMA4D-203	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402418.2	NM_006378		19	30	0	0	0	1	0	19	30				
SBF2	81846	broad.mit.edu	37	11	10024128	10024128	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10024128G>T	ENST00000256190.8	-	7	865	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	243	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAACATTAAAGATTCCAGGGC	0.348																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(727-729)tCt>tAt		SET binding factor 2							67.0	68.0	68.0					11																	10024128		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10024128G>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.728C>A	11.37:g.10024128G>T	ENSP00000256190:p.Ser243Tyr					SBF2_ENST00000527019.1_5'UTR	p.S243Y	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	7	865	-			243			DENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.728C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849239	0.91277	.	.	ENSG00000133812	ENST00000256190	T	0.12774	2.65	5.41	5.41	0.78517	DENN (3);	0.284096	0.35495	N	0.003170	T	0.36524	0.0970	M	0.73319	2.225	0.58432	D	0.999994	D	0.63880	0.993	P	0.62649	0.905	T	0.02925	-1.1093	9	.	.	.	.	19.1739	0.93594	0.0:0.0:1.0:0.0	.	243	Q86WG5	MTMRD_HUMAN	Y	243	ENSP00000256190:S243Y	.	S	-	2	0	SBF2	9980704	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.869000	0.99810	2.525000	0.85131	0.591000	0.81541	TCT		0.348	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		19	31	1	0	1.64113e-05	1	1.85146e-05	19	31				
IFIH1	64135	broad.mit.edu	37	2	163136557	163136557	+	Silent	SNP	G	G	A	rs369245661		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163136557G>A	ENST00000263642.2	-	8	1985	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	530					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTGTATTTGGTTTTTCAGTT	0.328																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(1588-1590)aaC>aaT		interferon induced with helicase C domain 1							132.0	123.0	126.0					2																	163136557		2203	4300	6503	SO:0001819	synonymous_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163136557G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1590C>T	2.37:g.163136557G>A							p.N530N	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			8	1985	-			530					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	c.1590C>T	CCDS2217.1																																																																																				0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		24	33	0	0	0	1	0	24	33				
DHX30	22907	broad.mit.edu	37	3	47882639	47882639	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47882639G>T	ENST00000445061.1	+	7	1046	c.639G>T	c.(637-639)caG>caT	p.Q213H	DHX30_ENST00000348968.4_Missense_Mutation_p.Q185H|DHX30_ENST00000446256.2_Missense_Mutation_p.Q174H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q241H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	213						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGACCCAGCAGGATTCCCACG	0.567																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(520-522)caG>caT		DEAH (Asp-Glu-Ala-His) box helicase 30							48.0	50.0	50.0					3																	47882639		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882639G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.639G>T	3.37:g.47882639G>T	ENSP00000405620:p.Gln213His					DHX30_ENST00000445061.1_Missense_Mutation_p.Q213H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q185H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q241H	p.Q174H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1094	+			213					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.522G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861172	0.51482	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.92;3.9;3.91;3.89	5.17	3.34	0.38264	.	0.394049	0.26719	N	0.022841	T	0.04770	0.0129	L	0.36672	1.1	0.40266	D	0.97823	P;B;P	0.36944	0.553;0.42;0.574	B;B;B	0.41764	0.146;0.281;0.366	T	0.48328	-0.9045	10	0.51188	T	0.08	.	8.4167	0.32676	0.1827:0.0:0.8173:0.0	.	213;174;241	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	H	174;213;185;241	ENSP00000392601:Q174H;ENSP00000405620:Q213H;ENSP00000343442:Q185H;ENSP00000394682:Q241H	ENSP00000343442:Q185H	Q	+	3	2	DHX30	47857643	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	0.565000	0.23578	0.533000	0.28675	0.655000	0.94253	CAG		0.567	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		5	15	1	0	1.23904e-05	1	1.39987e-05	5	15				
FKBP14	55033	broad.mit.edu	37	7	30058726	30058726	+	Silent	SNP	T	T	C	rs542489955	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30058726T>C	ENST00000222803.5	-	3	538	c.363A>G	c.(361-363)ccA>ccG	p.P121P	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	121	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						GTGTACTTTCTGGGGGAATTT	0.333																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(361-363)ccA>ccG		FK506 binding protein 14, 22 kDa							79.0	86.0	83.0					7																	30058726		2203	4300	6503	SO:0001819	synonymous_variant	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30058726T>C	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.363A>G	7.37:g.30058726T>C						AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	p.P121P	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			3	538	-			121			PPIase FKBP-type.			Silent	SNP	ENST00000222803.5	37	c.363A>G	CCDS5423.1																																																																																				0.333	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		8	115	0	0	0	1	0	8	115				
CD1B	910	broad.mit.edu	37	1	158299264	158299264	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158299264C>A	ENST00000368168.3	-	4	889	c.782G>T	c.(781-783)tGg>tTg	p.W261L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	261	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCGGAGATACCATGTCCAGTT	0.597																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(781-783)tGg>tTg		CD1b molecule							132.0	118.0	123.0					1																	158299264		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299264C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.782G>T	1.37:g.158299264C>A	ENSP00000357150:p.Trp261Leu						p.W261L	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			4	889	-	all_hematologic(112;0.0378)		261			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.782G>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542336	0.45280	.	.	ENSG00000158485	ENST00000368168	T	0.02631	4.22	4.26	4.26	0.50523	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.39834	N	0.001257	T	0.12008	0.0292	M	0.90922	3.16	0.33033	D	0.530418	D	0.89917	1.0	D	0.97110	1.0	T	0.00978	-1.1493	10	0.87932	D	0	-5.277	12.3598	0.55197	0.0:1.0:0.0:0.0	.	261	P29016	CD1B_HUMAN	L	261	ENSP00000357150:W261L	ENSP00000357150:W261L	W	-	2	0	CD1B	156565888	0.998000	0.40836	0.987000	0.45799	0.095000	0.18619	1.819000	0.39022	2.365000	0.80145	0.655000	0.94253	TGG		0.597	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		6	94	1	0	0.000157383	1	0.00017284	6	94				
ANAPC2	29882	broad.mit.edu	37	9	140082371	140082371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140082371G>T	ENST00000323927.2	-	2	306	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCATCCGCAGAGTTCTCGCA	0.582																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(301-303)tCt>tAt		anaphase promoting complex subunit 2							87.0	91.0	90.0					9																	140082371		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082371G>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.302C>A	9.37:g.140082371G>T	ENSP00000314004:p.Ser101Tyr						p.S101Y	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	306	-	all_cancers(76;0.0926)		101					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.302C>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	4.395	0.073033	0.08485	.	.	ENSG00000176248	ENST00000323927	T	0.71222	-0.55	5.09	0.919	0.19392	.	0.684498	0.15839	N	0.242126	T	0.51534	0.1680	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40701	-0.9549	10	0.48119	T	0.1	-0.8946	6.5666	0.22515	0.1903:0.3639:0.4458:0.0	.	101	Q9UJX6	ANC2_HUMAN	Y	101	ENSP00000314004:S101Y	ENSP00000314004:S101Y	S	-	2	0	ANAPC2	139202192	0.135000	0.22499	0.008000	0.14137	0.034000	0.12701	1.923000	0.40055	0.183000	0.20059	-0.258000	0.10820	TCT		0.582	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		7	46	1	0	0.0293803	1	0.0301098	7	46				
LAMA5	3911	broad.mit.edu	37	20	60887030	60887030	+	Missense_Mutation	SNP	G	G	A	rs201837442		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887030G>A	ENST00000252999.3	-	70	9647	c.9581C>T	c.(9580-9582)gCg>gTg	p.A3194V	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3194	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCGAAGCCCGCTTGAGTTTT	0.647													.|||	1	0.000199681	0.0	0.0	5008	,	,		14238	0.0		0.001	False		,,,				2504	0.0					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9580-9582)gCg>gTg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						63.0	67.0	66.0					20																	60887030		2203	4298	6501	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887030G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9581C>T	20.37:g.60887030G>A	ENSP00000252999:p.Ala3194Val						p.A3194V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		70	9647	-	Breast(26;1.57e-08)		3194			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9581C>T	CCDS33502.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	7.066	0.567325	0.13560	.	.	ENSG00000130702	ENST00000252999	T	0.78003	-1.14	4.62	0.452	0.16634	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.574030	0.18470	N	0.140259	T	0.60792	0.2296	L	0.34521	1.04	0.09310	N	1	B	0.24317	0.101	B	0.22386	0.039	T	0.46816	-0.9164	10	0.36615	T	0.2	.	4.244	0.10663	0.0:0.315:0.3194:0.3656	.	3194	O15230	LAMA5_HUMAN	V	3194	ENSP00000252999:A3194V	ENSP00000252999:A3194V	A	-	2	0	LAMA5	60320425	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.243000	0.08915	0.072000	0.16694	-0.235000	0.12190	GCG		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		30	47	0	0	0	1	0	30	47				
CCDC88A	55704	broad.mit.edu	37	2	55523586	55523586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55523586C>A	ENST00000436346.1	-	30	5740	c.4899G>T	c.(4897-4899)gaG>gaT	p.E1633D	CCDC88A_ENST00000422883.2_Missense_Mutation_p.E134D|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1605D|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1632D|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1632D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1633					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGACCAAGCCTCATGGTCAT	0.478																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(4897-4899)gaG>gaT		coiled-coil domain containing 88A							134.0	116.0	122.0					2																	55523586		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55523586C>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4899G>T	2.37:g.55523586C>A	ENSP00000410608:p.Glu1633Asp					CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1632D|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1605D|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1632D|CCDC88A_ENST00000422883.2_Missense_Mutation_p.E134D	p.E1633D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			30	5740	-			1633					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.4899G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.666|8.666|8.666	0.901753|0.901753|0.901753	0.17760|0.17760|0.17760	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975|ENST00000444458	T;T;T;T;T;T|.|.	0.50813|.|.	2.45;2.49;2.68;0.73;2.46;1.38|.|.	5.39|5.39|5.39	2.46|2.46|2.46	0.29980|0.29980|0.29980	.|.|.	0.160911|.|.	0.29916|.|.	U|.|.	0.010866|.|.	T|T|T	0.38054|0.38054|0.38054	0.1026|0.1026|0.1026	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.39986|0.39986|0.39986	D|D|D	0.974981|0.974981|0.974981	B;B;B;D;B;B;B|.|.	0.61697|.|.	0.001;0.005;0.003;0.99;0.0;0.003;0.005|.|.	B;B;B;D;B;B;B|.|.	0.72982|.|.	0.002;0.006;0.003;0.979;0.001;0.004;0.006|.|.	T|T|T	0.13845|0.13845|0.13845	-1.0494|-1.0494|-1.0494	10|5|5	0.17832|.|.	T|.|.	0.49|.|.	-13.4093|-13.4093|-13.4093	3.892|3.892|3.892	0.09123|0.09123|0.09123	0.2553:0.4512:0.0:0.2935|0.2553:0.4512:0.0:0.2935|0.2553:0.4512:0.0:0.2935	.|.|.	1632;1605;1550;134;1633;1632;1604|.|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.|.	.;.;.;.;GRDN_HUMAN;.;.|.|.	D|C|M	1632;1605;1633;134;650;1632;808|586|136	ENSP00000338728:E1632D;ENSP00000263630:E1605D;ENSP00000410608:E1633D;ENSP00000390012:E650D;ENSP00000404431:E1632D;ENSP00000405080:E808D|.|.	ENSP00000263630:E1605D|.|.	E|G|R	-|-|-	3|1|2	2|0|0	CCDC88A|CCDC88A|CCDC88A	55377090|55377090|55377090	0.956000|0.956000|0.956000	0.32656|0.32656|0.32656	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.974000|0.974000|0.974000	0.67602|0.67602|0.67602	0.445000|0.445000|0.445000	0.21677|0.21677|0.21677	0.661000|0.661000|0.661000	0.30985|0.30985|0.30985	-0.373000|-0.373000|-0.373000	0.07131|0.07131|0.07131	GAG|GGC|AGG		0.478	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		8	71	1	0	0.00448238	1	0.00472561	8	71				
ITGAV	3685	broad.mit.edu	37	2	187466773	187466773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187466773C>T	ENST00000261023.3	+	2	485	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ITGAV_ENST00000433736.2_Missense_Mutation_p.P25S|ITGAV_ENST00000374907.3_Missense_Mutation_p.P71S	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	71					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CGTGGGAGCTCCCAAAGCAAA	0.473																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(211-213)Ccc>Tcc		integrin, alpha V							78.0	78.0	78.0					2																	187466773		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187466773C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.211C>T	2.37:g.187466773C>T	ENSP00000261023:p.Pro71Ser					ITGAV_ENST00000374907.3_Missense_Mutation_p.P71S|ITGAV_ENST00000433736.2_Missense_Mutation_p.P25S	p.P71S	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	2	485	+			71					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.211C>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382568	0.82792	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	D;D;D	0.92446	-3.04;-3.04;-3.04	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	M	0.93638	3.44	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.997	D	0.97988	1.0353	10	0.87932	D	0	.	15.5579	0.76213	0.0:1.0:0.0:0.0	.	25;71;71	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	S	71;71;71;25	ENSP00000261023:P71S;ENSP00000364042:P71S;ENSP00000404291:P25S	ENSP00000261023:P71S	P	+	1	0	ITGAV	187175018	0.998000	0.40836	0.998000	0.56505	0.992000	0.81027	4.678000	0.61641	2.388000	0.81334	0.655000	0.94253	CCC		0.473	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		23	31	0	0	0	1	0	23	31				
PCNXL2	80003	broad.mit.edu	37	1	233353846	233353846	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233353846G>T	ENST00000258229.9	-	11	2823	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	PCNXL2_ENST00000430153.1_Silent_p.G162G|PCNXL2_ENST00000488780.2_5'Flank	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	863						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTGCAAAAGCCTTGGCTCA	0.463																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2587-2589)ggC>ggA		pecanex-like 2 (Drosophila)							60.0	58.0	59.0					1																	233353846		1952	4152	6104	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233353846G>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2589C>A	1.37:g.233353846G>T						PCNXL2_ENST00000430153.1_Silent_p.G162G	p.G863G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			11	2823	-		all_cancers(173;0.0347)|Prostate(94;0.137)	863					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.2589C>A	CCDS44335.1																																																																																				0.463	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		3	7	1	0	0.150653	1	0.152692	3	7				
FYCO1	79443	broad.mit.edu	37	3	46008666	46008666	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46008666C>T	ENST00000296137.2	-	8	2365	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q	FYCO1_ENST00000535325.1_Silent_p.Q720Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	720					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCCAGTTGCTGGCACTGCT	0.607																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2158-2160)caG>caA		FYVE and coiled-coil domain containing 1							88.0	92.0	91.0					3																	46008666		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008666C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2160G>A	3.37:g.46008666C>T						FYCO1_ENST00000535325.1_Silent_p.Q720Q	p.Q720Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2365	-			720					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.2160G>A	CCDS2734.1																																																																																				0.607	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		13	145	0	0	0	1	0	13	145				
NLRP1	22861	broad.mit.edu	37	17	5461726	5461726	+	Missense_Mutation	SNP	C	C	T	rs140677797		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461726C>T	ENST00000572272.1	-	4	2289	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.V764M|NLRP1_ENST00000354411.3_Missense_Mutation_p.V764M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V764M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V764M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V764M			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	764					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTTCTTCACGTGGCGGCTG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21144	0.0		0.0	False		,,,				2504	0.0					ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2290-2292)Gtg>Atg		NLR family, pyrin domain containing 1		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	99.0	99.0	99.0		2290,2290,2290,2290,2290	0.7	0.0	17	dbSNP_134	99	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	21,21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	764/1376,764/1430,764/1474,764/1444,764/1400	5461726	2,13004	2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5461726C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2290G>A	17.37:g.5461726C>T	ENSP00000460475:p.Val764Met					NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.V764M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V764M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V764M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V764M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V764M	p.V764M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2844	-		Colorectal(1115;3.48e-05)	764					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2290G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713574	0.48517	0.0	2.33E-4	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	4.02	0.698	0.18087	.	0.723090	0.11537	N	0.554155	T	0.58004	0.2092	M	0.69358	2.11	0.09310	N	1	D;D;D;P;D;D	0.65815	0.983;0.983;0.983;0.948;0.983;0.995	P;P;P;B;P;P	0.54060	0.714;0.714;0.714;0.421;0.714;0.741	T	0.48896	-0.8994	10	0.87932	D	0	.	5.8672	0.18781	0.0:0.6202:0.0:0.3798	.	30;764;764;764;764;764	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	M	764;764;764;764;764;30	ENSP00000442029:V764M;ENSP00000262467:V764M;ENSP00000269280:V764M;ENSP00000346390:V764M;ENSP00000324366:V764M	ENSP00000262467:V764M	V	-	1	0	NLRP1	5402450	0.061000	0.20836	0.001000	0.08648	0.266000	0.26442	0.395000	0.20850	0.199000	0.20427	-0.145000	0.13849	GTG		0.512	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		8	70	0	0	0	1	0	8	70				
ASPM	259266	broad.mit.edu	37	1	197071586	197071586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197071586G>A	ENST00000367409.4	-	18	7051	c.6795C>T	c.(6793-6795)gcC>gcT	p.A2265A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2265	IQ 20. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 21. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAGAGTTGCGGCTATATGCA	0.348																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6793-6795)gcC>gcT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							77.0	84.0	82.0					1																	197071586		2203	4297	6500	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071586G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6795C>T	1.37:g.197071586G>A						ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A2265A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7051	-			2265			IQ 20.|IQ 21.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6795C>T	CCDS1389.1																																																																																				0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		48	112	0	0	0	1	0	48	112				
EMILIN2	84034	broad.mit.edu	37	18	2885065	2885065	+	Missense_Mutation	SNP	G	G	T	rs369600920		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2885065G>T	ENST00000254528.3	+	3	520	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	121					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTGCCAAGAAGGTCCCAAAGA	0.502																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(361-363)Ggt>Tgt		elastin microfibril interfacer 2							98.0	90.0	93.0					18																	2885065		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2885065G>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.361G>T	18.37:g.2885065G>T	ENSP00000254528:p.Gly121Cys						p.G121C	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	3	520	+			121					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.361G>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415705	0.83449	.	.	ENSG00000132205	ENST00000254528	T	0.40756	1.02	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.66096	0.2755	M	0.72894	2.215	0.53688	D	0.999977	D	0.89917	1.0	D	0.74674	0.984	T	0.64850	-0.6310	10	0.52906	T	0.07	-21.4655	20.1337	0.98010	0.0:0.0:1.0:0.0	.	121	Q9BXX0	EMIL2_HUMAN	C	121	ENSP00000254528:G121C	ENSP00000254528:G121C	G	+	1	0	EMILIN2	2875065	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.560000	0.67332	2.753000	0.94483	0.650000	0.86243	GGT		0.502	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		19	42	1	0	6.33239e-15	1	8.10486e-15	19	42				
CHD1L	9557	broad.mit.edu	37	1	146739147	146739147	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146739147A>C	ENST00000369258.4	+	9	978	c.958A>C	c.(958-960)Aag>Cag	p.K320Q	CHD1L_ENST00000369259.3_Missense_Mutation_p.K116Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.K320Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.K39Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	320					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCAGCTTCGAAAGTGTGTGGA	0.373																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(958-960)Aag>Cag		chromodomain helicase DNA binding protein 1-like							127.0	114.0	118.0					1																	146739147		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146739147A>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.958A>C	1.37:g.146739147A>C	ENSP00000358262:p.Lys320Gln					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.K116Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.K320Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.K39Q	p.K320Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			9	978	+	all_hematologic(923;0.0487)		320					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.958A>C	CCDS927.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.613880	0.87359	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000436230;ENST00000361293	D;D;D;T	0.92911	-3.13;-3.13;-3.13;-1.01	5.64	5.64	0.86602	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	L	0.37897	1.145	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.93600	0.6929	10	0.87932	D	0	.	12.252	0.54603	1.0:0.0:0.0:0.0	.	320;116;320	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	320;116;320;220;39	ENSP00000389031:K320Q;ENSP00000358263:K116Q;ENSP00000358262:K320Q;ENSP00000355100:K39Q	ENSP00000355100:K39Q	K	+	1	0	CHD1L	145205771	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.042000	0.89430	2.137000	0.66172	0.528000	0.53228	AAG		0.373	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		7	45	0	0	0	1	0	7	45				
H3F3A	3020	broad.mit.edu	37	1	226259158	226259158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226259158G>A	ENST00000366813.1	+	3	764	c.389G>A	c.(388-390)cGc>cAc	p.R130H	H3F3A_ENST00000366815.3_Missense_Mutation_p.R130H|H3F3A_ENST00000366816.1_Missense_Mutation_p.R130H			P84243	H33_HUMAN	H3 histone, family 3A	130					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTAGCACGCCGCATACGTGGA	0.403			Mis		glioma																																	ENST00000366813.1				Dom	yes		1	1q42.12	3020	Mis	"""H3 histone, family 3A"""			O			glioma		0				central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(388-390)cGc>cAc		H3 histone, family 3A							30.0	28.0	29.0					1																	226259158		2202	4281	6483	SO:0001583	missense	3020							g.chr1:226259158G>A	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.389G>A	1.37:g.226259158G>A	ENSP00000355778:p.Arg130His					H3F3A_ENST00000366816.1_Missense_Mutation_p.R130H|H3F3A_ENST00000366815.3_Missense_Mutation_p.R130H	p.R130H						GBM - Glioblastoma multiforme(131;0.203)	3	764	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.389G>A	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845080	0.51164	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366813	T;T;T	0.75154	-0.91;-0.91;-0.91	5.83	5.83	0.93111	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.64457	-0.6403	9	0.54805	T	0.06	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	130	P84243	H33_HUMAN	H	130	ENSP00000355781:R130H;ENSP00000355780:R130H;ENSP00000355778:R130H	ENSP00000355778:R130H	R	+	2	0	H3F3A	224325781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.693000	0.98684	2.937000	0.99478	0.650000	0.86243	CGC		0.403	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		8	11	0	0	0	1	0	8	11				
PCDHA5	56143	broad.mit.edu	37	5	140201478	140201478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140201478C>T	ENST00000529859.1	+	1	118	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.H40Y|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.H40Y|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	40	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCAAACACGGAACCTT	0.672																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(118-120)Cac>Tac									56.0	63.0	60.0					5																	140201478		2203	4300	6503	SO:0001583	missense	0							g.chr5:140201478C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.118C>T	5.37:g.140201478C>T	ENSP00000436557:p.His40Tyr					PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.H40Y|PCDHA5_ENST00000378126.3_Missense_Mutation_p.H40Y|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.H40Y	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	118	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.118C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872554	0.33069	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.27402	1.67;1.67;1.67	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.58524	0.2128	M	0.89968	3.075	0.22648	N	0.998895	D;P;D	0.65815	0.995;0.513;0.991	D;B;P	0.65684	0.937;0.162;0.872	T	0.51980	-0.8636	9	0.87932	D	0	.	9.7602	0.40528	0.1551:0.6947:0.1503:0.0	.	40;40;40	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	Y	40	ENSP00000433416:H40Y;ENSP00000436557:H40Y;ENSP00000367366:H40Y	ENSP00000367366:H40Y	H	+	1	0	PCDHA5	140181662	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	-0.541000	0.06099	1.858000	0.53909	0.585000	0.79938	CAC		0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		10	67	0	0	0	1	0	10	67				
CNOT11	55571	broad.mit.edu	37	2	101885772	101885772	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101885772T>C	ENST00000289382.3	+	7	1593	c.1430T>C	c.(1429-1431)tTc>tCc	p.F477S	RNF149_ENST00000485752.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	477					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GTGCAGGCATTCTGTATTGAA	0.398																																						ENST00000289382.3																			0											c.(1429-1431)tTc>tCc		CCR4-NOT transcription complex, subunit 11							100.0	102.0	101.0					2																	101885772		2203	4300	6503	SO:0001583	missense	55571							g.chr2:101885772T>C	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1430T>C	2.37:g.101885772T>C	ENSP00000289382:p.Phe477Ser						p.F477S	NM_017546.4	NP_060016.3					7	1593	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.1430T>C	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003269	0.93287	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90544	0.4504	9	0.87932	D	0	-27.3606	16.4484	0.83959	0.0:0.0:0.0:1.0	.	477	Q9UKZ1	CB029_HUMAN	S	477	.	ENSP00000289382:F477S	F	+	2	0	C2orf29	101252204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.285000	0.76669	0.533000	0.62120	TTC		0.398	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		10	64	0	0	0	1	0	10	64				
ABCA3	21	broad.mit.edu	37	16	2348503	2348503	+	Missense_Mutation	SNP	C	C	T	rs368830525		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2348503C>T	ENST00000301732.5	-	15	2480	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	ABCA3_ENST00000382381.3_Missense_Mutation_p.G536R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	594	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ATTTCATACCCGCTGATGTAT	0.587																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1780-1782)Ggg>Agg		ATP-binding cassette, sub-family A (ABC1), member 3		C	ARG/GLY	0,4396		0,0,2198	89.0	84.0	86.0		1780	5.2	0.1	16		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA3	NM_001089.2	125	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	594/1705	2348503	1,12995	2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2348503C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1780G>A	16.37:g.2348503C>T	ENSP00000301732:p.Gly594Arg					ABCA3_ENST00000382381.3_Missense_Mutation_p.G536R	p.G594R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			15	2480	-		Ovarian(90;0.17)	594			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.1780G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464723	0.63513	0.0	1.16E-4	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.96168	-3.93	6.17	5.23	0.72850	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.047805	0.85682	N	0.000000	D	0.98137	0.9385	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99078	1.0836	10	0.87932	D	0	.	14.0828	0.64937	0.0:0.9281:0.0:0.0719	.	594;598;594	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	R	594;598	ENSP00000301732:G594R	ENSP00000301732:G594R	G	-	1	0	ABCA3	2288504	1.000000	0.71417	0.100000	0.21137	0.028000	0.11728	7.783000	0.85696	1.630000	0.50440	0.655000	0.94253	GGG		0.587	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		19	37	0	0	0	1	0	19	37				
C2orf71	388939	broad.mit.edu	37	2	29294474	29294474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29294474G>T	ENST00000331664.5	-	1	2653	c.2654C>A	c.(2653-2655)tCt>tAt	p.S885Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	885					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGGCTCACAGAGGCCCTCAG	0.662																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(2653-2655)tCt>tAt		chromosome 2 open reading frame 71							27.0	31.0	30.0					2																	29294474		1924	4127	6051	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294474G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2654C>A	2.37:g.29294474G>T	ENSP00000332809:p.Ser885Tyr						p.S885Y	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	2653	-			885						Missense_Mutation	SNP	ENST00000331664.5	37	c.2654C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786111	0.70337	.	.	ENSG00000179270	ENST00000331664	T	0.37915	1.17	5.55	5.55	0.83447	.	0.067084	0.64402	D	0.000010	T	0.62196	0.2408	M	0.71581	2.175	0.49582	D	0.9998	D	0.89917	1.0	D	0.81914	0.995	T	0.64618	-0.6365	10	0.87932	D	0	-16.0332	19.4866	0.95032	0.0:0.0:1.0:0.0	.	885	A6NGG8	CB071_HUMAN	Y	885	ENSP00000332809:S885Y	ENSP00000332809:S885Y	S	-	2	0	C2orf71	29147978	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	9.237000	0.95368	2.596000	0.87737	0.591000	0.81541	TCT		0.662	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		7	51	1	0	2.0095e-06	1	2.31757e-06	7	51				
ORAI2	80228	broad.mit.edu	37	7	102087139	102087139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102087139C>T	ENST00000356387.2	+	4	640	c.405C>T	c.(403-405)agC>agT	p.S135S	ORAI2_ENST00000473939.1_Silent_p.S135S|ORAI2_ENST00000403646.3_Silent_p.S135S|ORAI2_ENST00000478730.2_Silent_p.S135S|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	135						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						ACTCCATCAGCGAGTCCCCGC	0.627																																						ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(403-405)agC>agT		ORAI calcium release-activated calcium modulator 2							178.0	151.0	160.0					7																	102087139		2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087139C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.405C>T	7.37:g.102087139C>T						ORAI2_ENST00000478730.1_Silent_p.S135S|ORAI2_ENST00000473939.1_Silent_p.S135S|ORAI2_ENST00000403646.3_Silent_p.S135S|ORAI2_ENST00000488996.1_3'UTR	p.S135S	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	640	+			135					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.405C>T	CCDS5722.1																																																																																				0.627	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		92	52	0	0	0	1	0	92	52				
HERC2	8924	broad.mit.edu	37	15	28483336	28483336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28483336A>G	ENST00000261609.7	-	25	3884	c.3776T>C	c.(3775-3777)gTa>gCa	p.V1259A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCAAAGCTACCACTGGGTC	0.463																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3775-3777)gTa>gCa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							29.0	30.0	30.0					15																	28483336		2201	4279	6480	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28483336A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3776T>C	15.37:g.28483336A>G	ENSP00000261609:p.Val1259Ala						p.V1259A	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	25	3884	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1259			Cytochrome b5 heme-binding.			Missense_Mutation	SNP	ENST00000261609.7	37	c.3776T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	9.480	1.097799	0.20552	.	.	ENSG00000128731	ENST00000261609	T	0.78924	-1.22	5.35	5.35	0.76521	Cytochrome b5 (4);	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	N	0.05230	-0.09	0.80722	D	1	B	0.24132	0.098	B	0.21917	0.037	T	0.56408	-0.7984	10	0.07813	T	0.8	.	15.0052	0.71507	1.0:0.0:0.0:0.0	.	1259	O95714	HERC2_HUMAN	A	1259	ENSP00000261609:V1259A	ENSP00000261609:V1259A	V	-	2	0	HERC2	26156931	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.476000	0.81055	2.036000	0.60181	0.454000	0.30748	GTA		0.463	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		23	35	0	0	0	1	0	23	35				
MAN1C1	57134	broad.mit.edu	37	1	26109097	26109097	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26109097A>G	ENST00000374332.4	+	11	2002	c.1672A>G	c.(1672-1674)Aca>Gca	p.T558A	MAN1C1_ENST00000374329.1_Missense_Mutation_p.T329A|MAN1C1_ENST00000263979.3_Missense_Mutation_p.T378A	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	558					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATACTGTCGGACAGAAGCCGG	0.542																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1672-1674)Aca>Gca		mannosidase, alpha, class 1C, member 1							106.0	101.0	103.0					1																	26109097		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26109097A>G	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1672A>G	1.37:g.26109097A>G	ENSP00000363452:p.Thr558Ala					MAN1C1_ENST00000263979.3_Missense_Mutation_p.T378A|MAN1C1_ENST00000374329.1_Missense_Mutation_p.T329A	p.T558A	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	11	2002	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	558					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1672A>G	CCDS265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.83|15.83	2.949263|2.949263	0.53186|0.53186	.|.	.|.	ENSG00000117643|ENSG00000117643	ENST00000374331|ENST00000374332;ENST00000263979;ENST00000374329	.|T;T;T	.|0.74106	.|-0.81;-0.81;-0.81	5.0|5.0	3.88|3.88	0.44766|0.44766	.|.	.|0.159057	.|0.43579	.|D	.|0.000545	T|T	0.66086|0.66086	0.2754|0.2754	L|L	0.37750|0.37750	1.13|1.13	0.37147|0.37147	D|D	0.901978|0.901978	.|P	.|0.46784	.|0.884	.|P	.|0.47251	.|0.542	T|T	0.69355|0.69355	-0.5167|-0.5167	6|10	0.66056|0.42905	D|T	0.02|0.14	-18.1129|-18.1129	6.1702|6.1702	0.20412|0.20412	0.8034:0.0:0.1966:0.0|0.8034:0.0:0.1966:0.0	.|.	.|558	.|Q9NR34	.|MA1C1_HUMAN	G|A	377|558;378;329	.|ENSP00000363452:T558A;ENSP00000263979:T378A;ENSP00000363449:T329A	ENSP00000363451:D377G|ENSP00000263979:T378A	D|T	+|+	2|1	0|0	MAN1C1|MAN1C1	25981684|25981684	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.972000|0.972000	0.66771|0.66771	5.861000|5.861000	0.69553|0.69553	1.881000|1.881000	0.54492|0.54492	0.459000|0.459000	0.35465|0.35465	GAC|ACA		0.542	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		14	20	0	0	0	1	0	14	20				
ACE2	59272	broad.mit.edu	37	X	15596323	15596323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15596323C>T	ENST00000252519.3	-	9	1288	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	ACE2_ENST00000427411.1_Missense_Mutation_p.A396T			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	396					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CCTTCATTAGCTCCATTTCTT	0.433																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(1186-1188)Gct>Act		angiotensin I converting enzyme 2	Moexipril(DB00691)						121.0	101.0	107.0					X																	15596323		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15596323C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1186G>A	X.37:g.15596323C>T	ENSP00000252519:p.Ala396Thr					ACE2_ENST00000252519.3_Missense_Mutation_p.A396T	p.A396T	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			10	1402	-	Hepatocellular(33;0.183)		396					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.1186G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267672	0.95399	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.45668	0.89;0.89	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.90252	3.1	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.78727	-0.2091	10	0.66056	D	0.02	-19.5722	18.525	0.90968	0.0:1.0:0.0:0.0	.	396	Q9BYF1	ACE2_HUMAN	T	396	ENSP00000252519:A396T;ENSP00000389326:A396T	ENSP00000252519:A396T	A	-	1	0	ACE2	15506244	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.317000	0.78254	0.544000	0.68410	GCT		0.433	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			26	46	0	0	0	1	0	26	46				
MRPS7	51081	broad.mit.edu	37	17	73258623	73258623	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73258623T>G	ENST00000245539.6	+	2	356	c.129T>G	c.(127-129)gaT>gaG	p.D43E	MRPS7_ENST00000579002.1_Missense_Mutation_p.D72E|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000582486.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.D43E|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000579743.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	43					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AATTCAAGGATCCCTTGATTG	0.512																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(127-129)gaT>gaG		mitochondrial ribosomal protein S7							148.0	152.0	150.0					17																	73258623		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258623T>G	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.129T>G	17.37:g.73258623T>G	ENSP00000245539:p.Asp43Glu					MRPS7_ENST00000245539.6_Missense_Mutation_p.D43E|MRPS7_ENST00000579002.1_Missense_Mutation_p.D72E	p.D43E			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	356	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		43					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.129T>G	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.445171	0.25987	.	.	ENSG00000125445	ENST00000245539	T	0.38401	1.14	5.57	-4.23	0.03789	Ribosomal protein S7 domain (2);	0.191570	0.56097	N	0.000038	T	0.09555	0.0235	N	0.05351	-0.065	0.44275	D	0.997131	B	0.09022	0.002	B	0.08055	0.003	T	0.37337	-0.9710	10	0.02654	T	1	-13.9903	1.5095	0.02493	0.1508:0.304:0.2617:0.2835	.	43	Q9Y2R9	RT07_HUMAN	E	43	ENSP00000245539:D43E	ENSP00000245539:D43E	D	+	3	2	MRPS7	70770218	0.893000	0.30496	0.753000	0.31225	0.055000	0.15305	-0.061000	0.11693	-0.421000	0.07416	0.528000	0.53228	GAT		0.512	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		72	140	0	0	0	1	0	72	140				
CHST4	10164	broad.mit.edu	37	16	71570688	71570688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71570688G>A	ENST00000338482.5	+	3	451	c.108G>A	c.(106-108)atG>atA	p.M36I	CHST4_ENST00000572450.1_Missense_Mutation_p.M36I|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.M36I			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	36					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCCTGTCTATGAAGGCACAGC	0.517																																						ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(106-108)atG>atA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							127.0	119.0	122.0					16																	71570688		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570688G>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.108G>A	16.37:g.71570688G>A	ENSP00000341206:p.Met36Ile					CHST4_ENST00000572450.1_Missense_Mutation_p.M36I|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.M36I|ZNF19_ENST00000568446.1_Intron	p.M36I			Q8NCG5	CHST4_HUMAN			3	451	+			36					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.108G>A	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557128	0.27827	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.95918	-3.85;-3.85	6.0	-4.58	0.03410	.	5.213560	0.00166	N	0.000013	D	0.86847	0.6031	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.78658	-0.2118	10	0.38643	T	0.18	-3.816	3.1982	0.06640	0.2579:0.4168:0.2189:0.1064	.	36	Q8NCG5	CHST4_HUMAN	I	36	ENSP00000341206:M36I;ENSP00000441204:M36I	ENSP00000341206:M36I	M	+	3	0	CHST4	70128189	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.049000	0.11924	-0.659000	0.05359	-0.182000	0.12963	ATG		0.517	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		17	72	0	0	0	1	0	17	72				
GCM1	8521	broad.mit.edu	37	6	52993556	52993556	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993556C>T	ENST00000259803.7	-	6	970	c.759G>A	c.(757-759)caG>caA	p.Q253Q	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	253					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CAGTGGAAGTCTGGTCAGTCA	0.473																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(757-759)caG>caA		glial cells missing homolog 1 (Drosophila)							89.0	84.0	86.0					6																	52993556		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993556C>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.759G>A	6.37:g.52993556C>T							p.Q253Q	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			6	970	-	Lung NSC(77;0.0755)		253					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.759G>A	CCDS4950.1																																																																																				0.473	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			25	32	0	0	0	1	0	25	32				
BIVM	54841	broad.mit.edu	37	13	103491950	103491950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103491950C>T	ENST00000257336.1	+	11	1926	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	BIVM_ENST00000448849.2_Missense_Mutation_p.A194V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S387S|BIVM_ENST00000419638.1_3'UTR	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	416						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCATAGCATTCCAGAGA	0.393																																						ENST00000257336.1																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25						c.(1246-1248)gCa>gTa		basic, immunoglobulin-like variable motif containing							86.0	88.0	87.0					13																	103491950		2203	4300	6503	SO:0001583	missense	54841							g.chr13:103491950C>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1247C>T	13.37:g.103491950C>T	ENSP00000257336:p.Ala416Val					BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.A194V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S387S	p.A416V	NM_017693.3	NP_060163.2					11	1926	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.1247C>T	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877644	0.91664	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000418659	.	.	.	4.93	4.93	0.64822	.	0.068907	0.56097	D	0.000021	T	0.74596	0.3737	M	0.61703	1.905	0.58432	D	0.999994	D;D;P	0.71674	0.99;0.998;0.869	P;P;P	0.58820	0.741;0.846;0.475	T	0.77996	-0.2377	9	0.72032	D	0.01	-4.7033	18.4951	0.90863	0.0:1.0:0.0:0.0	.	194;387;416	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	V	416;194;387	.	ENSP00000257336:A416V	A	+	2	0	ERCC5;BIVM	102289951	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.410000	0.80065	2.422000	0.82143	0.563000	0.77884	GCA		0.393	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			11	85	0	0	0	1	0	11	85				
PMP2	5375	broad.mit.edu	37	8	82359586	82359586	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82359586G>T	ENST00000256103.2	-	1	172	c.36C>A	c.(34-36)gtC>gtA	p.V12V	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Silent_p.V12V	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	12					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTCACTAGAGACAAGTTTCC	0.408																																						ENST00000256103.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(34-36)gtC>gtA		peripheral myelin protein 2							115.0	111.0	112.0					8																	82359586		2203	4300	6503	SO:0001819	synonymous_variant	5375					cytoplasm	cholesterol binding|fatty acid binding|transporter activity	g.chr8:82359586G>T	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.36C>A	8.37:g.82359586G>T						PMP2_ENST00000519260.1_Silent_p.V12V|RP11-157I4.4_ENST00000524085.2_RNA	p.V12V	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	Epithelial(68;0.186)		1	172	-			12					Q6FHL4	Silent	SNP	ENST00000256103.2	37	c.36C>A	CCDS6229.1																																																																																				0.408	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		25	84	1	0	1.32181e-22	1	1.74568e-22	25	84				
DCANP1	140947	broad.mit.edu	37	5	134785473	134785473	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134785473G>A	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.L53F|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCGGGAGAGGCGAGGGAGC	0.657																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(157-159)Ctc>Ttc		TRAF-interacting protein with forkhead-associated domain, family member B							33.0	40.0	37.0					5																	134785473		2113	4222	6335	SO:0001631	upstream_gene_variant	497189							g.chr5:134785473G>A																													5.37:g.134785473G>A	Exception_encountered						p.L53F	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	357	-			53			FHA.			Missense_Mutation	SNP	ENST00000503143.2	37	c.157C>T	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841759	0.32513	.	.	ENSG00000255833	ENST00000537858	D	0.87412	-2.25	4.91	2.75	0.32379	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.194814	0.30850	U	0.008747	D	0.89128	0.6627	L	0.57536	1.79	0.25196	N	0.990093	D	0.76494	0.999	D	0.70487	0.969	T	0.79431	-0.1806	10	0.72032	D	0.01	.	4.3779	0.11279	0.1187:0.0:0.599:0.2823	.	53	Q6ZNK6	TIFAB_HUMAN	F	53	ENSP00000440509:L53F	ENSP00000440509:L53F	L	-	1	0	TIFAB	134813372	0.585000	0.26774	0.503000	0.27626	0.021000	0.10359	0.595000	0.24029	1.164000	0.42652	0.563000	0.77884	CTC		0.657	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			30	23	0	0	0	1	0	30	23				
PTPRT	11122	broad.mit.edu	37	20	40739067	40739067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40739067C>T	ENST00000373187.1	-	23	3159	c.3160G>A	c.(3160-3162)Ggc>Agc	p.G1054S	PTPRT_ENST00000373198.4_Missense_Mutation_p.G1073S|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1044S|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1064S|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1053S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1063S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1057S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1054	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGGAACGCCGTGGTCAGGC	0.612																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3226-3228)Ggc>Agc		protein tyrosine phosphatase, receptor type, T							60.0	71.0	67.0					20																	40739067		1975	4140	6115	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40739067C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3160G>A	20.37:g.40739067C>T	ENSP00000362283:p.Gly1054Ser					PTPRT_ENST00000373184.1_Missense_Mutation_p.G1064S|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1054S|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1053S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1057S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1063S|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1044S	p.G1076S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			24	3461	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1054			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3226G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609680	0.96637	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.8	4.8	0.61643	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.982;0.99	T	0.71020	-0.4713	10	0.87932	D	0	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	1076;1054	O14522-1;O14522	.;PTPRT_HUMAN	S	1053;1054;1057;1063;1076;1064;1044	ENSP00000362286:G1053S;ENSP00000362283:G1054S;ENSP00000362289:G1057S;ENSP00000348408:G1063S;ENSP00000362294:G1076S;ENSP00000362280:G1064S;ENSP00000362297:G1044S	ENSP00000348408:G1063S	G	-	1	0	PTPRT	40172481	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.376000	0.81061	0.655000	0.94253	GGC		0.612	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			3	56	0	0	0	1	0	3	56				
SORBS1	10580	broad.mit.edu	37	10	97078130	97078130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97078130C>T	ENST00000361941.3	-	30	3784	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	SORBS1_ENST00000371245.3_Missense_Mutation_p.R866H|SORBS1_ENST00000607232.1_Missense_Mutation_p.R1255H|SORBS1_ENST00000306402.6_Missense_Mutation_p.R742H|SORBS1_ENST00000371246.2_Missense_Mutation_p.R1112H|SORBS1_ENST00000371239.1_Missense_Mutation_p.R772H|SORBS1_ENST00000393949.1_Missense_Mutation_p.R965H|SORBS1_ENST00000371247.2_Missense_Mutation_p.R1253H|SORBS1_ENST00000347291.4_Missense_Mutation_p.R807H|SORBS1_ENST00000353505.5_Missense_Mutation_p.R866H|SORBS1_ENST00000354106.3_Missense_Mutation_p.R965H|SORBS1_ENST00000371249.2_Missense_Mutation_p.R777H|SORBS1_ENST00000371227.4_Missense_Mutation_p.R1227H|SORBS1_ENST00000371241.1_Missense_Mutation_p.R645H|SORBS1_ENST00000277982.5_Missense_Mutation_p.R1112H	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTCCATCGCGGAGTTCCAA	0.353																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3757-3759)cGc>cAc		sorbin and SH3 domain containing 1							170.0	156.0	161.0					10																	97078130		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97078130C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3758G>A	10.37:g.97078130C>T	ENSP00000355136:p.Arg1253His					SORBS1_ENST00000371249.2_Missense_Mutation_p.R777H|SORBS1_ENST00000354106.3_Missense_Mutation_p.R965H|SORBS1_ENST00000371239.1_Missense_Mutation_p.R772H|SORBS1_ENST00000607232.1_Missense_Mutation_p.R1255H|SORBS1_ENST00000371245.3_Missense_Mutation_p.R866H|SORBS1_ENST00000347291.4_Missense_Mutation_p.R807H|SORBS1_ENST00000306402.6_Missense_Mutation_p.R742H|SORBS1_ENST00000361941.3_Missense_Mutation_p.R1253H|SORBS1_ENST00000371241.1_Missense_Mutation_p.R645H|SORBS1_ENST00000371227.4_Missense_Mutation_p.R1227H|SORBS1_ENST00000277982.5_Missense_Mutation_p.R1112H|SORBS1_ENST00000353505.5_Missense_Mutation_p.R866H|SORBS1_ENST00000393949.1_Missense_Mutation_p.R965H|SORBS1_ENST00000371246.2_Missense_Mutation_p.R1112H	p.R1253H			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	32	3947	-		Colorectal(252;0.0429)	1253			SH3 3.			Missense_Mutation	SNP	ENST00000361941.3	37	c.3758G>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001010	0.74818	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.18	4.28	0.50868	Src homology-3 domain (4);	0.305164	0.18200	N	0.148525	T	0.55016	0.1894	L	0.27053	0.805	0.33877	D	0.635602	P;D;P;P;D;D;D;D;P;D;D;P	0.89917	0.798;0.972;0.898;0.922;0.999;1.0;0.999;0.978;0.951;1.0;1.0;0.908	B;P;B;P;D;D;D;P;P;D;D;P	0.87578	0.402;0.859;0.419;0.599;0.945;0.997;0.977;0.864;0.558;0.97;0.998;0.628	T	0.64676	-0.6351	10	0.40728	T	0.16	-2.6831	13.7932	0.63155	0.0:0.926:0.0:0.074	.	710;1227;777;742;645;772;866;1253;1112;807;965;509	B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	H	866;742;777;1253;1227;1112;965;866;807;1253;1112;645;965;772	ENSP00000360291:R866H;ENSP00000302556:R742H;ENSP00000360295:R777H;ENSP00000360293:R1253H;ENSP00000360271:R1227H;ENSP00000360292:R1112H;ENSP00000377521:R965H;ENSP00000343998:R866H;ENSP00000277985:R807H;ENSP00000355136:R1253H;ENSP00000277982:R1112H;ENSP00000360285:R645H;ENSP00000277984:R965H;ENSP00000360283:R772H	ENSP00000277982:R1112H	R	-	2	0	SORBS1	97068120	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.733000	0.55029	1.311000	0.45024	0.561000	0.74099	CGC		0.353	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			23	61	0	0	0	1	0	23	61				
AZU1	566	broad.mit.edu	37	19	831742	831742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:831742C>T	ENST00000233997.2	+	5	642	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCGTCTGCGAGGGCCTGG	0.706																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(619-621)tgC>tgT		azurocidin 1							14.0	17.0	16.0					19																	831742		2191	4287	6478	SO:0001819	synonymous_variant	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:831742C>T	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.621C>T	19.37:g.831742C>T							p.C207C	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	642	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	207			Peptidase S1.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	ENST00000233997.2	37	c.621C>T	CCDS12044.1																																																																																				0.706	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		9	5	0	0	0	1	0	9	5				
NCOR1	9611	broad.mit.edu	37	17	16042399	16042399	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16042399C>A	ENST00000268712.3	-	12	1532	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	NCOR1_ENST00000395848.1_Missense_Mutation_p.E316D|RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395851.1_Missense_Mutation_p.E425D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	425					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATAGGGTCCTCCATAAGCC	0.353																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(1273-1275)gaG>gaT		nuclear receptor corepressor 1							57.0	54.0	55.0					17																	16042399		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16042399C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1275G>T	17.37:g.16042399C>A	ENSP00000268712:p.Glu425Asp					NCOR1_ENST00000395851.1_Missense_Mutation_p.E425D|NCOR1_ENST00000395848.1_Missense_Mutation_p.E316D	p.E425D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	12	1532	-			425					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1275G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954503	0.34471	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.38	2.33	0.28932	Homeodomain-like (1);	0.144182	0.64402	D	0.000008	T	0.13670	0.0331	N	0.12831	0.26	0.80722	D	1	B;B;B;B;B;B	0.19935	0.0;0.0;0.0;0.011;0.04;0.003	B;B;B;B;B;B	0.21546	0.001;0.001;0.001;0.01;0.035;0.009	T	0.19647	-1.0299	10	0.02654	T	1	-10.6678	9.8847	0.41255	0.0:0.7797:0.0:0.2203	.	434;425;425;316;425;425	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	D	425;425;316;434;316;425;434	ENSP00000268712:E425D;ENSP00000379192:E425D;ENSP00000379189:E316D;ENSP00000407998:E425D;ENSP00000387727:E434D	ENSP00000268712:E425D	E	-	3	2	NCOR1	15983124	0.888000	0.30383	1.000000	0.80357	0.999000	0.98932	0.036000	0.13819	0.264000	0.21851	0.655000	0.94253	GAG		0.353	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		6	29	1	0	0.217242	1	0.218821	6	29				
SLC13A2	9058	broad.mit.edu	37	17	26820649	26820649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820649C>T	ENST00000314669.5	+	7	1359	c.939C>T	c.(937-939)tgC>tgT	p.C313C	SLC13A2_ENST00000545060.1_Silent_p.C270C|SLC13A2_ENST00000444914.3_Silent_p.C362C|SLC13A2_ENST00000537681.1_Silent_p.C242C	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	313					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCCTACTGCGTCATCCAGA	0.607																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1084-1086)tgC>tgT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						58.0	51.0	54.0					17																	26820649		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26820649C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.939C>T	17.37:g.26820649C>T						SLC13A2_ENST00000314669.5_Silent_p.C313C|SLC13A2_ENST00000545060.1_Silent_p.C270C|SLC13A2_ENST00000537681.1_Silent_p.C242C	p.C362C	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	1506	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		313					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.1086C>T	CCDS11231.1																																																																																				0.607	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		12	26	0	0	0	1	0	12	26				
BAI1	575	broad.mit.edu	37	8	143623496	143623496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143623496G>A	ENST00000517894.1	+	28	4795	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1301N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1301					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTGCCCGACTTCCCCAA	0.647																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3901-3903)Gac>Aac		brain-specific angiogenesis inhibitor 1							38.0	45.0	43.0					8																	143623496		2021	4167	6188	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623496G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3901G>A	8.37:g.143623496G>A	ENSP00000430945:p.Asp1301Asn					BAI1_ENST00000323289.5_Missense_Mutation_p.D1301N	p.D1301N			O14514	BAI1_HUMAN			28	4795	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1301						Missense_Mutation	SNP	ENST00000517894.1	37	c.3901G>A		.	.	.	.	.	.	.	.	.	.	g	23.3	4.401263	0.83120	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28454	1.61;1.61	4.26	4.26	0.50523	.	0.293803	0.31772	U	0.007096	T	0.21307	0.0513	N	0.24115	0.695	0.38783	D	0.954803	D	0.52996	0.957	B	0.38428	0.273	T	0.21348	-1.0248	10	0.87932	D	0	.	15.6704	0.77270	0.0:0.0:1.0:0.0	.	1301	E9PBK0	.	N	1301	ENSP00000430945:D1301N;ENSP00000313046:D1301N	ENSP00000313046:D1301N	D	+	1	0	BAI1	143620498	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	5.416000	0.66417	1.910000	0.55303	0.586000	0.80456	GAC		0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		16	18	0	0	0	1	0	16	18				
GABRA1	2554	broad.mit.edu	37	5	161324157	161324157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324157C>A	ENST00000428797.2	+	11	1455	c.1100C>A	c.(1099-1101)aCt>aAt	p.T367N	GABRA1_ENST00000437025.2_Missense_Mutation_p.T367N|GABRA1_ENST00000444819.1_Missense_Mutation_p.T367N|GABRA1_ENST00000420560.1_Missense_Mutation_p.T367N|GABRA1_ENST00000023897.6_Missense_Mutation_p.T367N|GABRA1_ENST00000393943.4_Missense_Mutation_p.T367N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	367					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAAAACAACACTTACGCTCCA	0.418																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1099-1101)aCt>aAt		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						100.0	112.0	108.0					5																	161324157		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324157C>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1100C>A	5.37:g.161324157C>A	ENSP00000393097:p.Thr367Asn					GABRA1_ENST00000420560.1_Missense_Mutation_p.T367N|GABRA1_ENST00000023897.6_Missense_Mutation_p.T367N|GABRA1_ENST00000444819.1_Missense_Mutation_p.T367N|GABRA1_ENST00000393943.4_Missense_Mutation_p.T367N|GABRA1_ENST00000437025.2_Missense_Mutation_p.T367N	p.T367N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1455	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	367					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1100C>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879651	0.51801	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	L	0.39147	1.195	0.80722	D	1	B	0.28971	0.229	B	0.33254	0.16	T	0.70461	-0.4865	10	0.15952	T	0.53	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	367	P14867	GBRA1_HUMAN	N	367	ENSP00000023897:T367N;ENSP00000393097:T367N;ENSP00000377517:T367N;ENSP00000415441:T367N;ENSP00000408041:T367N;ENSP00000414232:T367N	ENSP00000023897:T367N	T	+	2	0	GABRA1	161256735	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.395000	0.79876	2.642000	0.89623	0.563000	0.77884	ACT		0.418	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		6	94	1	0	0.00198382	1	0.00210581	6	94				
HTRA4	203100	broad.mit.edu	37	8	38832617	38832617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38832617G>A	ENST00000302495.4	+	2	634	c.534G>A	c.(532-534)gcG>gcA	p.A178A	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	178					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGAAGGTGGCGCCATCGGTGG	0.577																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(532-534)gcG>gcA		HtrA serine peptidase 4							129.0	128.0	129.0					8																	38832617		2203	4300	6503	SO:0001819	synonymous_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38832617G>A	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.534G>A	8.37:g.38832617G>A							p.A178A	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		2	634	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	178					Q542Z4|Q6PF13	Silent	SNP	ENST00000302495.4	37	c.534G>A	CCDS6110.1																																																																																				0.577	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		50	94	0	0	0	1	0	50	94				
STXBP3	6814	broad.mit.edu	37	1	109351454	109351454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109351454G>A	ENST00000370008.3	+	19	1784	c.1734G>A	c.(1732-1734)atG>atA	p.M578I		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	578					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATATAAAGATGCTGAATAAAC	0.323																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(1732-1734)atG>atA		syntaxin binding protein 3							145.0	159.0	154.0					1																	109351454		2203	4300	6503	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109351454G>A	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1734G>A	1.37:g.109351454G>A	ENSP00000359025:p.Met578Ile						p.M578I	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	19	1784	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	578					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1734G>A	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653440	0.29425	.	.	ENSG00000116266	ENST00000370008	T	0.79940	-1.32	5.08	5.08	0.68730	.	0.312207	0.39834	N	0.001247	T	0.51024	0.1650	L	0.36672	1.1	0.25684	N	0.985766	B	0.27068	0.167	B	0.21360	0.034	T	0.35798	-0.9774	10	0.42905	T	0.14	-17.8178	4.3766	0.11274	0.0843:0.1553:0.5995:0.1609	.	578	O00186	STXB3_HUMAN	I	578	ENSP00000359025:M578I	ENSP00000359025:M578I	M	+	3	0	STXBP3	109152977	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.462000	0.35266	2.360000	0.80028	0.591000	0.81541	ATG		0.323	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		78	216	0	0	0	1	0	78	216				
GPR158	57512	broad.mit.edu	37	10	25887652	25887652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25887652G>T	ENST00000376351.3	+	11	3456	c.3097G>T	c.(3097-3099)Gct>Tct	p.A1033S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1033					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCTATTGTGGCTTCTGAAAT	0.458																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3097-3099)Gct>Tct		G protein-coupled receptor 158							69.0	67.0	68.0					10																	25887652		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887652G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3097G>T	10.37:g.25887652G>T	ENSP00000365529:p.Ala1033Ser					GPR158_ENST00000490549.1_3'UTR	p.A1033S	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3456	+			1033					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3097G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243595	0.22796	.	.	ENSG00000151025	ENST00000376351	T	0.31769	1.48	5.41	5.41	0.78517	.	0.173105	0.40064	N	0.001189	T	0.19087	0.0458	L	0.29908	0.895	0.36672	D	0.878559	B	0.11235	0.004	B	0.08055	0.003	T	0.14309	-1.0477	10	0.09084	T	0.74	.	9.41	0.38485	0.0:0.1279:0.6745:0.1976	.	1033	Q5T848	GP158_HUMAN	S	1033	ENSP00000365529:A1033S	ENSP00000365529:A1033S	A	+	1	0	GPR158	25927658	1.000000	0.71417	0.948000	0.38648	0.908000	0.53690	4.142000	0.58044	2.524000	0.85096	0.655000	0.94253	GCT		0.458	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		6	87	1	0	2.7689e-08	1	3.31013e-08	6	87				
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	rs151009293	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	995					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17038	0.0		0.0	False		,,,				2504	0.0					ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2983-2985)Cgg>Tgg		leucine-rich repeats and immunoglobulin-like domains 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	47.0	50.0		2983	5.9	0.4	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	995/1066	113666508	1,13005	2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113666508C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2983C>T	1.37:g.113666508C>T	ENSP00000355396:p.Arg995Trp					LRIG2_ENST00000492207.1_3'UTR	p.R995W	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	18	3181	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	995					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2983C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204530	0.22205	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.66099	-0.19	5.9	5.9	0.94986	.	0.411554	0.20917	N	0.083346	T	0.45617	0.1351	L	0.56769	1.78	0.31206	N	0.699241	D	0.56968	0.978	B	0.36504	0.226	T	0.59359	-0.7469	10	0.66056	D	0.02	.	17.1936	0.86887	0.0:0.8743:0.1257:0.0	.	995	O94898	LRIG2_HUMAN	W	995	ENSP00000355396:R995W	ENSP00000355396:R995W	R	+	1	2	LRIG2	113468031	0.996000	0.38824	0.385000	0.26158	0.017000	0.09413	1.389000	0.34453	2.798000	0.96311	0.650000	0.86243	CGG		0.418	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		19	14	0	0	0	1	0	19	14				
EIF3A	8661	broad.mit.edu	37	10	120830555	120830555	+	Missense_Mutation	SNP	C	C	T	rs201828136		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120830555C>T	ENST00000369144.3	-	5	711	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R161H	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACACAGTTTACGGAATTCAGC	0.378																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(583-585)cGt>cAt		eukaryotic translation initiation factor 3, subunit A							123.0	112.0	116.0					10																	120830555		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120830555C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.584G>A	10.37:g.120830555C>T	ENSP00000358140:p.Arg195His					EIF3A_ENST00000541549.1_Missense_Mutation_p.R161H|EIF3A_ENST00000478852.1_Intron	p.R195H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	5	711	-		Lung NSC(174;0.094)|all_lung(145;0.123)	195					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.584G>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621885	0.87460	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.46451	0.87;0.87	5.69	5.69	0.88448	.	0.000000	0.40222	N	0.001147	T	0.72128	0.3422	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.77078	-0.2721	10	0.87932	D	0	-13.319	19.813	0.96554	0.0:1.0:0.0:0.0	.	195	Q14152	EIF3A_HUMAN	H	195;161	ENSP00000358140:R195H;ENSP00000438178:R161H	ENSP00000358140:R195H	R	-	2	0	EIF3A	120820545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.786000	0.85741	2.683000	0.91414	0.591000	0.81541	CGT		0.378	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		33	45	0	0	0	1	0	33	45				
FRMPD4	9758	broad.mit.edu	37	X	12734613	12734613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734613C>A	ENST00000380682.1	+	15	2541	c.2035C>A	c.(2035-2037)Cct>Act	p.P679T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	679					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGATGAGGGTCCTGAAATGCT	0.493																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2035-2037)Cct>Act		FERM and PDZ domain containing 4							150.0	160.0	157.0					X																	12734613		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734613C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2035C>A	X.37:g.12734613C>A	ENSP00000370057:p.Pro679Thr						p.P679T	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2541	+			679					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2035C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744561	0.69418	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.36340	1.26	5.86	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.73598	2.24	0.42300	D	0.992172	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65302	-0.6201	10	0.72032	D	0.01	.	14.1779	0.65555	0.0:0.9267:0.0:0.0733	.	671;679	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	679;670;668	ENSP00000370057:P679T	ENSP00000304583:P668T	P	+	1	0	FRMPD4	12644534	1.000000	0.71417	0.770000	0.31555	0.834000	0.47266	5.634000	0.67833	1.239000	0.43787	-0.191000	0.12829	CCT		0.493	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		7	249	1	0	0.0293803	1	0.0301098	7	249				
GRHL3	57822	broad.mit.edu	37	1	24664190	24664190	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24664190G>T	ENST00000350501.5	+	6	878	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	GRHL3_ENST00000342072.4_Missense_Mutation_p.A158S|GRHL3_ENST00000236255.4_Missense_Mutation_p.A256S|GRHL3_ENST00000356046.2_Missense_Mutation_p.A205S|GRHL3_ENST00000361548.4_Missense_Mutation_p.A251S	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	251					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCACCCATGGCCTACCTCAA	0.597																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(751-753)Gcc>Tcc		grainyhead-like 3 (Drosophila)							112.0	93.0	100.0					1																	24664190		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24664190G>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.751G>T	1.37:g.24664190G>T	ENSP00000288955:p.Ala251Ser					GRHL3_ENST00000236255.4_Missense_Mutation_p.A256S|GRHL3_ENST00000356046.2_Missense_Mutation_p.A205S|GRHL3_ENST00000350501.5_Missense_Mutation_p.A251S|GRHL3_ENST00000342072.4_Missense_Mutation_p.A158S	p.A251S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	6	981	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	251					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.751G>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745353	0.69418	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.97	5.06	0.68205	.	0.055457	0.64402	D	0.000001	T	0.28234	0.0697	L	0.27053	0.805	0.45403	D	0.998385	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.96;0.96	T	0.02766	-1.1113	10	0.42905	T	0.14	-38.2248	14.2605	0.66083	0.0709:0.0:0.9291:0.0	.	205;256;251	A2A297;Q8TE85-2;G3XAF0	.;.;.	S	251;158;251;205;256	ENSP00000354943:A251S;ENSP00000340543:A158S;ENSP00000288955:A251S;ENSP00000348333:A205S;ENSP00000236255:A256S	ENSP00000236255:A256S	A	+	1	0	GRHL3	24536777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.125000	0.50469	1.538000	0.49270	-0.136000	0.14681	GCC		0.597	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		3	25	1	0	0.004672	1	0.0049138	3	25				
HIVEP3	59269	broad.mit.edu	37	1	42049277	42049277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42049277C>T	ENST00000372583.1	-	4	2077	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E398K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E398K|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E398K	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	398	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGCACTCTCGGAGCGAGAG	0.577																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1192-1194)Gag>Aag		human immunodeficiency virus type I enhancer binding protein 3							107.0	97.0	100.0					1																	42049277		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049277C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1192G>A	1.37:g.42049277C>T	ENSP00000361664:p.Glu398Lys					HIVEP3_ENST00000372583.1_Missense_Mutation_p.E398K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E398K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E398K	p.E398K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2206	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	398			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1192G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543781	0.45280	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.15	4.24	0.50183	.	0.251095	0.28301	N	0.015843	T	0.53514	0.1801	M	0.77616	2.38	0.38853	D	0.956312	D;D	0.60160	0.987;0.978	P;B	0.49047	0.599;0.394	T	0.65681	-0.6109	10	0.66056	D	0.02	-7.2486	14.8943	0.70633	0.1444:0.8556:0.0:0.0	.	398;398	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	K	398	ENSP00000361665:E398K;ENSP00000361664:E398K;ENSP00000247584:E398K;ENSP00000410828:E398K	ENSP00000247584:E398K	E	-	1	0	HIVEP3	41821864	1.000000	0.71417	0.985000	0.45067	0.015000	0.08874	7.604000	0.82830	1.400000	0.46741	-0.169000	0.13324	GAG		0.577	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		24	41	0	0	0	1	0	24	41				
SYMPK	8189	broad.mit.edu	37	19	46345528	46345528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46345528G>A	ENST00000245934.7	-	9	1311	c.1067C>T	c.(1066-1068)aCa>aTa	p.T356I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	356					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTTCTTGAGTGTGGAGTCCGA	0.572																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1066-1068)aCa>aTa		symplekin							66.0	70.0	69.0					19																	46345528		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345528G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1067C>T	19.37:g.46345528G>A	ENSP00000245934:p.Thr356Ile						p.T356I	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1311	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	356					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1067C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158316	0.38119	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.07	5.04	0.67666	Armadillo-type fold (1);	0.423103	0.27411	N	0.019498	T	0.27594	0.0678	N	0.22421	0.69	0.09310	N	1	B;B	0.25312	0.123;0.023	B;B	0.23716	0.048;0.01	T	0.11966	-1.0566	9	0.56958	D	0.05	.	7.9233	0.29859	0.0824:0.1625:0.7551:0.0	.	371;356	Q4LE61;Q92797	.;SYMPK_HUMAN	I	356	.	ENSP00000245934:T356I	T	-	2	0	SYMPK	51037368	0.289000	0.24334	0.029000	0.17559	0.947000	0.59692	3.448000	0.52943	2.885000	0.99019	0.655000	0.94253	ACA		0.572	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		24	46	0	0	0	1	0	24	46				
MAATS1	89876	broad.mit.edu	37	3	119449127	119449127	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119449127G>A	ENST00000273390.5	+	8	998	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	307						mitochondrion (GO:0005739)											AAGAGAATCAGAATGAAGTGA	0.418																																						ENST00000273390.5																			0											c.(919-921)caG>caA		MYCBP-associated, testis expressed 1							178.0	182.0	180.0					3																	119449127		2203	4300	6503	SO:0001819	synonymous_variant	89876							g.chr3:119449127G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.921G>A	3.37:g.119449127G>A							p.Q307Q	NM_033364.3	NP_203528.2					8	998	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.921G>A	CCDS2994.1																																																																																				0.418	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		63	101	0	0	0	1	0	63	101				
BCL2	596	broad.mit.edu	37	18	60985307	60985307	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60985307G>T	ENST00000398117.1	-	1	2047				BCL2_ENST00000333681.4_Intron|BCL2_ENST00000589955.1_Missense_Mutation_p.A198E|BCL2_ENST00000444484.1_Missense_Mutation_p.A198E	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2						actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ATCACCAAGTGCACCTACCCA	0.632			T	IGH@	"""NHL, CLL"""																																	ENST00000444484.1				Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		"""NHL, CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113						c.(592-594)gCa>gAa		B-cell CLL/lymphoma 2	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)						65.0	59.0	61.0					18																	60985307		2203	4300	6503	SO:0001627	intron_variant	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60985307G>T	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.585+7C>A	18.37:g.60985307G>T						BCL2_ENST00000589955.1_Missense_Mutation_p.A198E|BCL2_ENST00000398117.1_Intron|BCL2_ENST00000333681.4_Intron	p.A198E	NM_000657.2	NP_000648.2	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	1085	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	0					C9JHD5|P10416|Q13842|Q16197	Missense_Mutation	SNP	ENST00000398117.1	37	c.593C>A	CCDS11981.1	.	.	.	.	.	.	.	.	.	.	G	8.512	0.866647	0.17250	.	.	ENSG00000171791	ENST00000444484	T	0.04454	3.62	3.26	2.35	0.29111	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.26443	N	0.975738	P	0.34662	0.462	B	0.23275	0.045	T	0.42816	-0.9429	9	0.87932	D	0	.	10.48	0.44687	0.0:0.1988:0.8012:0.0	.	198	C9JHD5	.	E	198	ENSP00000404214:A198E	ENSP00000404214:A198E	A	-	2	0	BCL2	59136287	1.000000	0.71417	0.735000	0.30896	0.838000	0.47535	3.503000	0.53340	0.890000	0.36211	0.467000	0.42956	GCA		0.632	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		6	12	1	0	0.00198382	1	0.00210581	6	12				
ZNF462	58499	broad.mit.edu	37	9	109689801	109689801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689801G>T	ENST00000277225.5	+	3	3897	c.3608G>T	c.(3607-3609)cGg>cTg	p.R1203L	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1203L|ZNF462_ENST00000441147.2_Missense_Mutation_p.R48L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1203					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGGGAACCGGACGGTCAAA	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3607-3609)cGg>cTg		zinc finger protein 462							297.0	296.0	296.0					9																	109689801		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689801G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3608G>T	9.37:g.109689801G>T	ENSP00000277225:p.Arg1203Leu					ZNF462_ENST00000441147.2_Missense_Mutation_p.R48L|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1203L	p.R1203L			Q96JM2	ZN462_HUMAN			3	3897	+			1203					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3608G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914911	0.52546	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.07327	3.2;3.63;3.67;3.53	5.37	4.46	0.54185	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	M	0.65498	2.005	0.80722	D	1	D;B	0.63046	0.992;0.404	P;B	0.60682	0.878;0.033	T	0.00686	-1.1610	10	0.41790	T	0.15	.	8.8826	0.35384	0.0744:0.0:0.7755:0.1501	.	1203;1203	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1203;1203;86;48	ENSP00000277225:R1203L;ENSP00000414570:R1203L;ENSP00000363818:R86L;ENSP00000397306:R48L	ENSP00000277225:R1203L	R	+	2	0	ZNF462	108729622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	1.238000	0.43771	0.561000	0.74099	CGG		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		145	218	1	0	2.58994e-81	1	3.50777e-81	145	218				
NEK8	284086	broad.mit.edu	37	17	27061884	27061884	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061884G>A	ENST00000268766.6	+	3	382	c.348G>A	c.(346-348)ctG>ctA	p.L116L	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGCTTGCACTGCATCATGTGC	0.552																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(346-348)ctG>ctA		NIMA-related kinase 8							268.0	211.0	230.0					17																	27061884		2203	4300	6503	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061884G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.348G>A	17.37:g.27061884G>A						AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	p.L116L	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			3	382	+	Lung NSC(42;0.0158)		116			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.348G>A	CCDS32597.1																																																																																				0.552	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			44	78	0	0	0	1	0	44	78				
MYOM1	8736	broad.mit.edu	37	18	3151731	3151731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3151731C>T	ENST00000356443.4	-	12	2137	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M	MYOM1_ENST00000400569.3_Missense_Mutation_p.V602M|MYOM1_ENST00000261606.7_Missense_Mutation_p.V602M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	602	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGCAGCCACGGGCTCGGAA	0.433											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1804-1806)Gtg>Atg		myomesin 1							78.0	80.0	80.0					18																	3151731		1890	4131	6021	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3151731C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1804G>A	18.37:g.3151731C>T	ENSP00000348821:p.Val602Met		OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	MYOM1_ENST00000356443.4_Missense_Mutation_p.V602M|MYOM1_ENST00000261606.7_Missense_Mutation_p.V602M	p.V602M			P52179	MYOM1_HUMAN			12	2137	-			602			Fibronectin type-III 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1804G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131790	0.56828	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.61158	0.13;0.13;0.13	5.13	5.13	0.70059	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.062495	0.64402	D	0.000005	D	0.84737	0.5538	H	0.96889	3.9	0.45239	D	0.998242	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.957	D	0.89813	0.3983	10	0.87932	D	0	.	18.7667	0.91876	0.0:1.0:0.0:0.0	.	602;602	P52179-2;P52179	.;MYOM1_HUMAN	M	602	ENSP00000348821:V602M;ENSP00000383413:V602M;ENSP00000261606:V602M	ENSP00000261606:V602M	V	-	1	0	MYOM1	3141731	1.000000	0.71417	0.587000	0.28692	0.975000	0.68041	5.920000	0.70017	2.668000	0.90789	0.655000	0.94253	GTG		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		10	79	0	0	0	1	0	10	79				
ADCY2	108	broad.mit.edu	37	5	7817086	7817086	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7817086G>A	ENST00000338316.4	+	23	3080	c.2991G>A	c.(2989-2991)ttG>ttA	p.L997L	ADCY2_ENST00000537121.1_Silent_p.L817L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	997					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTCAAATTGCGAGTGGGTA	0.478											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2989-2991)ttG>ttA		adenylate cyclase 2 (brain)							185.0	138.0	154.0					5																	7817086		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7817086G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2991G>A	5.37:g.7817086G>A			OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_ENST00000537121.1_Silent_p.L817L	p.L997L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			23	3080	+			997					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2991G>A	CCDS3872.2																																																																																				0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		13	27	0	0	0	1	0	13	27				
KDM4B	23030	broad.mit.edu	37	19	5032937	5032937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5032937C>A	ENST00000159111.4	+	3	254	c.36C>A	c.(34-36)agC>agA	p.S12R	KDM4B_ENST00000381759.4_Missense_Mutation_p.S12R|KDM4B_ENST00000536461.1_Missense_Mutation_p.S12R	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	12					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAACCCCAGCTGTAAAATCA	0.592																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(34-36)agC>agA		lysine (K)-specific demethylase 4B							103.0	107.0	105.0					19																	5032937		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5032937C>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.36C>A	19.37:g.5032937C>A	ENSP00000159111:p.Ser12Arg					KDM4B_ENST00000536461.1_Missense_Mutation_p.S12R|KDM4B_ENST00000381759.4_Missense_Mutation_p.S12R	p.S12R	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			3	254	+			12					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.36C>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163152	0.57476	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.35605	2.22;1.3;2.21	4.65	-1.52	0.08637	.	0.165968	0.52532	D	0.000071	T	0.32406	0.0828	L	0.60845	1.875	0.39548	D	0.968938	B;P;B	0.41265	0.019;0.744;0.006	B;B;B	0.41894	0.024;0.369;0.007	T	0.16660	-1.0395	10	0.56958	D	0.05	-9.8789	9.2864	0.37760	0.0:0.6124:0.0:0.3876	.	12;12;12	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	R	12	ENSP00000159111:S12R;ENSP00000371178:S12R;ENSP00000440495:S12R	ENSP00000159111:S12R	S	+	3	2	KDM4B	4983937	0.991000	0.36638	0.907000	0.35723	0.974000	0.67602	0.367000	0.20382	-0.322000	0.08615	-0.367000	0.07326	AGC		0.592	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		10	134	1	0	9.70103e-10	1	1.18443e-09	10	134				
RDX	5962	broad.mit.edu	37	11	110128576	110128576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110128576T>C	ENST00000343115.4	-	7	933	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	RDX_ENST00000405097.1_Missense_Mutation_p.Y205C|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.Y205C|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.Y69C	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	205	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TATTTCAAAATAGTTGACTCC	0.313																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(613-615)tAt>tGt		radixin							69.0	73.0	71.0					11																	110128576		2201	4296	6497	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110128576T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.614A>G	11.37:g.110128576T>C	ENSP00000342830:p.Tyr205Cys					RDX_ENST00000405097.1_Missense_Mutation_p.Y205C|RDX_ENST00000528498.1_Missense_Mutation_p.Y205C|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.Y69C	p.Y205C	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	7	933	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	205			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.614A>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426728	0.83667	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551;ENST00000534683	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.32	5.32	0.75619	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95339	0.8436	10	0.87932	D	0	.	15.314	0.74059	0.0:0.0:0.0:1.0	.	69;205;205	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	C	205;205;205;205;69;24	ENSP00000432112:Y205C;ENSP00000384136:Y205C;ENSP00000342830:Y205C;ENSP00000445826:Y69C;ENSP00000431560:Y24C	ENSP00000342830:Y205C	Y	-	2	0	RDX	109633786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.019000	0.59389	0.528000	0.53228	TAT		0.313	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		5	80	0	0	0	1	0	5	80				
CACNA1S	779	broad.mit.edu	37	1	201018173	201018173	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201018173A>T	ENST00000362061.3	-	35	4522	c.4296T>A	c.(4294-4296)ccT>ccA	p.P1432P	CACNA1S_ENST00000367338.3_Silent_p.P1413P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1432					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P1432P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAAGCCCAGAGGGGGCTGAA	0.597																																						ENST00000362061.3																			1	Substitution - coding silent(1)	p.P1432P(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(4294-4296)ccT>ccA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						44.0	41.0	42.0					1																	201018173		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201018173A>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4296T>A	1.37:g.201018173A>T						CACNA1S_ENST00000367338.3_Silent_p.P1413P	p.P1432P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			35	4522	-			1432					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.4296T>A	CCDS1407.1																																																																																				0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		8	12	0	0	0	1	0	8	12				
WDR60	55112	broad.mit.edu	37	7	158716267	158716267	+	Silent	SNP	G	G	A	rs141953924		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158716267G>A	ENST00000407559.3	+	17	2258	c.2100G>A	c.(2098-2100)acG>acA	p.T700T		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	700					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAGGTCACGTGTTGCTGCT	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22267	0.0		0.0	False		,,,				2504	0.0					ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2098-2100)acG>acA		WD repeat domain 60							118.0	120.0	119.0					7																	158716267		2164	4276	6440	SO:0001819	synonymous_variant	55112							g.chr7:158716267G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2100G>A	7.37:g.158716267G>A							p.T700T	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	17	2258	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	700					Q9NW58	Silent	SNP	ENST00000407559.3	37	c.2100G>A	CCDS47757.1																																																																																				0.463	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		22	69	0	0	0	1	0	22	69				
ZPBP2	124626	broad.mit.edu	37	17	38024841	38024841	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38024841T>C	ENST00000348931.4	+	2	283	c.92T>C	c.(91-93)tTc>tCc	p.F31S	ZPBP2_ENST00000377940.3_Intron|ZPBP2_ENST00000584588.1_Missense_Mutation_p.F31S	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	31					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGAAGGGCTTCATTTATGGC	0.522																																						ENST00000348931.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(91-93)tTc>tCc		zona pellucida binding protein 2							99.0	108.0	105.0					17																	38024841		2203	4300	6503	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38024841T>C	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.92T>C	17.37:g.38024841T>C	ENSP00000335384:p.Phe31Ser					ZPBP2_ENST00000377940.3_Intron|ZPBP2_ENST00000584588.1_Missense_Mutation_p.F31S	p.F31S	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	283	+	Colorectal(19;0.000442)		31					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.92T>C	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	T	2.960	-0.214913	0.06101	.	.	ENSG00000186075	ENST00000348931	T	0.42513	0.97	4.71	0.977	0.19733	Immunoglobulin-like (1);	0.260026	0.28082	N	0.016674	T	0.28300	0.0699	L	0.60455	1.87	0.80722	D	1	P	0.38335	0.627	B	0.32022	0.139	T	0.03910	-1.0993	10	0.33141	T	0.24	-4.375	3.3421	0.07122	0.3591:0.0993:0.0:0.5415	.	31	Q6X784	ZPBP2_HUMAN	S	31	ENSP00000335384:F31S	ENSP00000335384:F31S	F	+	2	0	ZPBP2	35278367	1.000000	0.71417	0.970000	0.41538	0.002000	0.02628	1.118000	0.31246	0.372000	0.24591	-1.271000	0.01417	TTC		0.522	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		8	120	0	0	0	1	0	8	120				
POLM	27434	broad.mit.edu	37	7	44113534	44113534	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113534T>C	ENST00000242248.5	-	9	1263	c.1162A>G	c.(1162-1164)Agt>Ggt	p.S388G	POLM_ENST00000395831.3_Missense_Mutation_p.S308G|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.S351G	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	388					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						ATGCAGAAACTTCTCTCAAAA	0.612								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(1162-1164)Agt>Ggt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							64.0	68.0	66.0					7																	44113534		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44113534T>C	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1162A>G	7.37:g.44113534T>C	ENSP00000242248:p.Ser388Gly					POLM_ENST00000395831.3_Missense_Mutation_p.S308G|POLM_ENST00000335195.6_Missense_Mutation_p.S351G	p.S388G	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			9	1263	-			388					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.1162A>G	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498718	0.64298	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.43294	0.95;0.95;0.95	5.65	3.13	0.36017	DNA-directed DNA polymerase X (1);	0.093959	0.85682	D	0.000000	T	0.50463	0.1617	L	0.59436	1.845	0.21527	N	0.999659	P;P;P	0.52842	0.955;0.956;0.915	P;B;B	0.58520	0.84;0.344;0.321	T	0.34304	-0.9834	10	0.51188	T	0.08	-10.3096	7.6701	0.28453	0.4205:0.0:0.0:0.5795	.	308;351;388	Q86WQ9;Q6P5X8;Q9NP87	.;.;DPOLM_HUMAN	G	351;388;308	ENSP00000335141:S351G;ENSP00000242248:S388G;ENSP00000379174:S308G	ENSP00000242248:S388G	S	-	1	0	POLM	44080059	0.957000	0.32711	0.997000	0.53966	0.874000	0.50279	2.711000	0.47177	0.950000	0.37743	0.529000	0.55759	AGT		0.612	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		24	59	0	0	0	1	0	24	59				
ZFP91	80829	broad.mit.edu	37	11	58380261	58380261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58380261G>A	ENST00000316059.6	+	8	1106	c.935G>A	c.(934-936)cGt>cAt	p.R312H	AP001350.1_ENST00000601906.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R312H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	312					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGTATGTCCGTTGTGAGATG	0.403																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(934-936)cGt>cAt		ZFP91 zinc finger protein							159.0	147.0	151.0					11																	58380261		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58380261G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.935G>A	11.37:g.58380261G>A	ENSP00000339030:p.Arg312His					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R312H	p.R312H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			8	1106	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	312					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.935G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073146	0.94000	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11821	2.74	6.1	6.1	0.99115	Zinc finger, C2H2-like (1);	0.322409	0.29300	N	0.012548	T	0.28333	0.0700	N	0.26092	0.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.00634	-1.1634	10	0.51188	T	0.08	-13.968	19.4861	0.95028	0.0:0.0:1.0:0.0	.	312;312	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	H	312	ENSP00000339030:R312H	ENSP00000374569:R312H	R	+	2	0	ZFP91	58136837	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.229000	0.95273	2.902000	0.99343	0.650000	0.86243	CGT		0.403	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		10	117	0	0	0	1	0	10	117				
RYR2	6262	broad.mit.edu	37	1	237632393	237632393	+	Splice_Site	SNP	G	G	A	rs566885717		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000360064.6_Splice_Site_p.A536A|RYR2_ENST00000542537.1_Splice_Site_p.A522A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16681	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e17-1		ryanodine receptor 2 (cardiac)							100.0	98.0	99.0					1																	237632393		1819	4080	5899	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632393G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1613-1G>A	1.37:g.237632393G>A						RYR2_ENST00000542537.1_Splice_Site_p.A522_splice|RYR2_ENST00000360064.6_Splice_Site_p.A536_splice	p.A538_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	1931	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	538					Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.1612_splice	CCDS55691.1																																																																																				0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Silent	13	33	0	0	0	1	0	13	33				
ZZEF1	23140	broad.mit.edu	37	17	4005701	4005701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4005701G>T	ENST00000381638.2	-	9	1706	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	528							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCAACTGGAGAGGTTTACCT	0.448																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1582-1584)Ctc>Atc		zinc finger, ZZ-type with EF-hand domain 1							122.0	106.0	111.0					17																	4005701		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4005701G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1582C>A	17.37:g.4005701G>T	ENSP00000371051:p.Leu528Ile					ZZEF1_ENST00000574474.1_5'UTR	p.L528I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			9	1706	-			528					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1582C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277217	0.80580	.	.	ENSG00000074755	ENST00000381638	T	0.43688	0.94	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.34521	1.04	0.51233	D	0.999912	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.52193	-0.8608	10	0.87932	D	0	-14.0323	7.4624	0.27302	0.1965:0.0:0.8035:0.0	.	528;528	O43149-3;O43149	.;ZZEF1_HUMAN	I	528	ENSP00000371051:L528I	ENSP00000371051:L528I	L	-	1	0	ZZEF1	3952450	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.731000	0.62022	2.709000	0.92574	0.655000	0.94253	CTC		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		32	40	1	0	1.22384e-17	1	1.58917e-17	32	40				
PCDHGA9	56107	broad.mit.edu	37	5	140783914	140783914	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140783914C>T	ENST00000573521.1	+	1	1395	c.1395C>T	c.(1393-1395)aaC>aaT	p.N465N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	465	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAAACAACGCCAGAGGTA	0.463																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1393-1395)aaC>aaT									83.0	83.0	83.0					5																	140783914		1954	4168	6122	SO:0001819	synonymous_variant	0							g.chr5:140783914C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1395C>T	5.37:g.140783914C>T						PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.N465N	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1395	+								A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.1395C>T	CCDS58981.1																																																																																				0.463	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		28	34	0	0	0	1	0	28	34				
SPATA5	166378	broad.mit.edu	37	4	124011759	124011759	+	Missense_Mutation	SNP	G	G	A	rs138229076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124011759G>A	ENST00000274008.4	+	14	2308	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	747					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAATGTAGCCGATCGTGTTTT	0.353																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2239-2241)Gat>Aat		spermatogenesis associated 5		G	ASN/ASP	0,4406		0,0,2203	120.0	114.0	116.0		2239	5.7	0.9	4	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPATA5	NM_145207.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	747/894	124011759	1,13005	2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124011759G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2239G>A	4.37:g.124011759G>A	ENSP00000274008:p.Asp747Asn					SPATA5_ENST00000422835.2_3'UTR	p.D747N	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			14	2308	+			747					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.2239G>A	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896503	0.91962	0.0	1.16E-4	ENSG00000145375	ENST00000274008	D	0.92805	-3.11	5.71	5.71	0.89125	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.058193	0.64402	D	0.000003	D	0.94503	0.8230	L	0.41415	1.275	0.54753	D	0.999989	D	0.89917	1.0	D	0.76575	0.988	D	0.94732	0.7910	10	0.72032	D	0.01	-17.4775	19.8593	0.96777	0.0:0.0:1.0:0.0	.	747	Q8NB90	SPAT5_HUMAN	N	747	ENSP00000274008:D747N	ENSP00000274008:D747N	D	+	1	0	SPATA5	124231209	1.000000	0.71417	0.914000	0.36105	0.706000	0.40770	8.738000	0.91569	2.700000	0.92200	0.557000	0.71058	GAT		0.353	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		40	55	0	0	0	1	0	40	55				
MTR	4548	broad.mit.edu	37	1	237044082	237044082	+	Silent	SNP	G	G	A	rs141919148	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237044082G>A	ENST00000366577.5	+	25	3016	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	MTR_ENST00000535889.1_Silent_p.P823P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	874	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAATAGCTCCGAGATACAGTG	0.443																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2620-2622)ccG>ccA		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	G		0,4406		0,0,2203	153.0	152.0	152.0		2622	-2.9	0.9	1	dbSNP_134	152	9,8591	5.7+/-21.5	0,9,4291	no	coding-synonymous	MTR	NM_000254.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		874/1266	237044082	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237044082G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2622G>A	1.37:g.237044082G>A						MTR_ENST00000535889.1_Silent_p.P823P	p.P874P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	25	3016	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	874			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.2622G>A	CCDS1614.1																																																																																				0.443	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		24	29	0	0	0	1	0	24	29				
SUPV3L1	6832	broad.mit.edu	37	10	70960148	70960148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70960148G>T	ENST00000359655.4	+	11	1471	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	471	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTGGCAGAGCTGGCAGATT	0.408																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1411-1413)Gct>Tct		suppressor of var1, 3-like 1 (S. cerevisiae)							93.0	93.0	93.0					10																	70960148		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70960148G>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1411G>T	10.37:g.70960148G>T	ENSP00000352678:p.Ala471Ser						p.A471S	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			11	1471	+			471			Helicase C-terminal.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.1411G>T	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464427	0.96257	.	.	ENSG00000156502	ENST00000359655	T	0.61158	0.13	5.61	5.61	0.85477	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82692	0.5092	M	0.93062	3.375	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	D	0.86440	0.1766	10	0.87932	D	0	-10.3316	19.6557	0.95837	0.0:0.0:1.0:0.0	.	471	Q8IYB8	SUV3_HUMAN	S	471	ENSP00000352678:A471S	ENSP00000352678:A471S	A	+	1	0	SUPV3L1	70630154	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.605000	0.98321	2.643000	0.89663	0.557000	0.71058	GCT		0.408	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		28	64	1	0	3.11337e-16	1	4.01248e-16	28	64				
CTDSPL	10217	broad.mit.edu	37	3	38022346	38022346	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38022346C>A	ENST00000273179.5	+	8	845	c.819C>A	c.(817-819)ctC>ctA	p.L273L	CTDSPL_ENST00000443503.2_Silent_p.L262L|CTDSPL_ENST00000310189.3_3'UTR	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	273						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGCACAGACTCTGCAATAGGT	0.622																																						ENST00000443503.2																			0				breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8						c.(784-786)ctC>ctA		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like							133.0	84.0	100.0					3																	38022346		2203	4300	6503	SO:0001819	synonymous_variant	10217					nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr3:38022346C>A	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.819C>A	3.37:g.38022346C>A						CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.L273L	p.L262L	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)	7	1026	+		Melanoma(1037;0.0122)	273					Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	c.786C>A	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	C	7.677	0.688227	0.14973	.	.	ENSG00000144677	ENST00000436654	.	.	.	5.33	3.41	0.39046	.	.	.	.	.	T	0.54398	0.1856	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49943	-0.8885	4	.	.	.	-19.0113	6.3449	0.21343	0.1369:0.656:0.1327:0.0745	.	.	.	.	Y	79	.	.	S	+	2	0	CTDSPL	37997350	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.670000	0.25157	2.664000	0.90586	0.655000	0.94253	TCT		0.622	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		10	25	1	0	0.000673444	1	0.000724755	10	25				
CNDP1	84735	broad.mit.edu	37	18	72247449	72247449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72247449G>A	ENST00000358821.3	+	10	1479	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	CNDP1_ENST00000582365.1_Silent_p.P374P	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GACTACACCCGTGGATTGCAA	0.438																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1120-1122)ccG>ccA		carnosine dipeptidase 1 (metallopeptidase M20 family)							120.0	112.0	114.0					18																	72247449		2203	4300	6503	SO:0001819	synonymous_variant	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247449G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1251G>A	18.37:g.72247449G>A						CNDP1_ENST00000358821.3_Silent_p.P417P	p.P374P			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	9	1188	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	417					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	c.1122G>A	CCDS12007.1																																																																																				0.438	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		11	24	0	0	0	1	0	11	24				
FZD2	2535	broad.mit.edu	37	17	42636613	42636613	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42636613G>A	ENST00000315323.3	+	1	1689	c.1557G>A	c.(1555-1557)acG>acA	p.T519T		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	519					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGACTTCACGGTCTACATGA	0.622																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1555-1557)acG>acA		frizzled family receptor 2							44.0	41.0	42.0					17																	42636613		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636613G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1557G>A	17.37:g.42636613G>A							p.T519T	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1689	+		Prostate(33;0.0181)	519					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1557G>A	CCDS11484.1																																																																																				0.622	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		5	11	0	0	0	1	0	5	11				
MT1A	4489	broad.mit.edu	37	16	56670364	56670364	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56670364G>A	ENST00000290705.8	+	0	0				MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCTCCTGCACGTGCGCCGGCT	0.572																																						ENST00000564564.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:56670364G>A	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731			16.37:g.56670364G>A	Exception_encountered													0	690	+								Q86YX5	RNA	SNP	ENST00000290705.8	37		CCDS32454.1																																																																																				0.572	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		5	47	0	0	0	1	0	5	47				
FBXO28	23219	broad.mit.edu	37	1	224345333	224345333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224345333C>A	ENST00000366862.5	+	5	1035	c.992C>A	c.(991-993)gCt>gAt	p.A331D	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	331										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ATGGAAAGTGCTGTAGGAAAT	0.483																																						ENST00000366862.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10						c.(991-993)gCt>gAt		F-box protein 28							130.0	135.0	133.0					1																	224345333		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224345333C>A	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.992C>A	1.37:g.224345333C>A	ENSP00000355827:p.Ala331Asp					FBXO28_ENST00000424254.2_3'UTR	p.A331D	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	5	1035	+	Breast(184;0.206)		331					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.992C>A	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986177	0.53934	.	.	ENSG00000143756	ENST00000366862	.	.	.	5.97	5.97	0.96955	.	0.149667	0.64402	D	0.000014	T	0.42944	0.1225	N	0.19112	0.55	0.80722	D	1	P	0.41313	0.745	B	0.37346	0.247	T	0.44390	-0.9331	9	0.59425	D	0.04	-13.2863	20.4388	0.99107	0.0:1.0:0.0:0.0	.	331	Q9NVF7	FBX28_HUMAN	D	331	.	ENSP00000355827:A331D	A	+	2	0	FBXO28	222411956	1.000000	0.71417	0.778000	0.31720	0.991000	0.79684	6.408000	0.73285	2.836000	0.97738	0.655000	0.94253	GCT		0.483	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		20	103	1	0	2.89027e-11	1	3.59474e-11	20	103				
FMN1	342184	broad.mit.edu	37	15	33200738	33200738	+	Silent	SNP	G	G	A	rs369837017		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33200738G>A	ENST00000559047.1	-	9	3329	c.3330C>T	c.(3328-3330)taC>taT	p.Y1110Y	FMN1_ENST00000334528.9_Silent_p.Y887Y|FMN1_ENST00000561249.1_Silent_p.Y1012Y			Q68DA7	FMN1_HUMAN	formin 1	1110	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGATGTCTCGTAATACTTTC	0.353																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2659-2661)taC>taT		formin 1		G		0,3634		0,0,1817	139.0	126.0	130.0		2661	-10.5	0.3	15		130	1,8185		0,1,4092	no	coding-synonymous	FMN1	NM_001103184.2		0,1,5909	AA,AG,GG		0.0122,0.0,0.0085		887/1197	33200738	1,11819	1817	4093	5910	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33200738G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3330C>T	15.37:g.33200738G>A						FMN1_ENST00000559047.1_Silent_p.Y1110Y|FMN1_ENST00000561249.1_Silent_p.Y1012Y	p.Y887Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	8	2660	-		all_lung(180;1.14e-07)	1110			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.2661C>T																																																																																					0.353	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		4	51	0	0	0	1	0	4	51				
CFAP69	79846	broad.mit.edu	37	7	89909125	89909125	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89909125G>T	ENST00000389297.4	+	12	1541	c.1290G>T	c.(1288-1290)gtG>gtT	p.V430V	C7orf63_ENST00000316089.8_Silent_p.V430V|C7orf63_ENST00000497910.1_Silent_p.V412V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		430										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGTCATCAGTGGCTCCTTTAT	0.418											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1288-1290)gtG>gtT		chromosome 7 open reading frame 63							135.0	134.0	135.0					7																	89909125		1869	4118	5987	SO:0001819	synonymous_variant	79846						binding	g.chr7:89909125G>T																												ENST00000389297.4:c.1290G>T	7.37:g.89909125G>T			OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1270	C7orf63_ENST00000497910.1_Silent_p.V412V|C7orf63_ENST00000316089.8_Silent_p.V430V	p.V430V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			12	1541	+			430					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.1290G>T	CCDS43613.2																																																																																				0.418	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			10	140	1	0	0.000442599	1	0.00048047	10	140				
TMEM150C	441027	broad.mit.edu	37	4	83406871	83406871	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83406871G>A	ENST00000515780.2	-	8	747	c.543C>T	c.(541-543)taC>taT	p.Y181Y	TMEM150C_ENST00000449862.2_Splice_Site_p.Y181Y			B9EJG8	T150C_HUMAN	transmembrane protein 150C	181						integral component of membrane (GO:0016021)				ovary(1)	1						TGAGGATGAAGTCTGGGGAGA	0.493																																						ENST00000449862.2																			0				ovary(1)	1						c.e8-1		transmembrane protein 150C							28.0	27.0	28.0					4																	83406871		1959	4137	6096	SO:0001630	splice_region_variant	441027					integral to membrane		g.chr4:83406871G>A	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.542-1C>T	4.37:g.83406871G>A						TMEM150C_ENST00000515780.1_Splice_Site_p.Y181_splice	p.Y181_splice	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN			8	861	-			181					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Splice_Site	SNP	ENST00000515780.2	37	c.541_splice	CCDS47087.1																																																																																				0.493	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506	Silent	6	13	0	0	0	1	0	6	13				
KIAA0195	9772	broad.mit.edu	37	17	73491697	73491697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73491697C>T	ENST00000314256.7	+	22	3311	c.2917C>T	c.(2917-2919)Ccc>Tcc	p.P973S	KIAA0195_ENST00000579208.1_Missense_Mutation_p.P624S|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.P983S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	973						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGCTAGTGCCCCTTTTCAC	0.637																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(2917-2919)Ccc>Tcc		KIAA0195							134.0	129.0	131.0					17																	73491697		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73491697C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2917C>T	17.37:g.73491697C>T	ENSP00000313885:p.Pro973Ser					KIAA0195_ENST00000579208.1_Missense_Mutation_p.P624S|KIAA0195_ENST00000375248.5_Missense_Mutation_p.P983S	p.P973S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		22	3311	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		973					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.2917C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468733	0.63625	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.37058	1.22;1.22	5.83	5.83	0.93111	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	N	0.26042	0.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.996	T	0.11299	-1.0593	10	0.02654	T	1	-42.5346	20.1082	0.97900	0.0:1.0:0.0:0.0	.	983;983;973	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	S	973;983	ENSP00000313885:P973S;ENSP00000364397:P983S	ENSP00000313885:P973S	P	+	1	0	KIAA0195	71003292	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.764000	0.94973	0.555000	0.69702	CCC		0.637	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		78	128	0	0	0	1	0	78	128				
ZSCAN10	84891	broad.mit.edu	37	16	3139434	3139434	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3139434G>A	ENST00000252463.2	-	5	1923	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Silent_p.C273C|ZSCAN10_ENST00000538082.2_Silent_p.C530C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	612					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AACGGTGGCCGCAGGTGTCGC	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1834-1836)tgC>tgT		zinc finger and SCAN domain containing 10							23.0	24.0	24.0					16																	3139434		2188	4282	6470	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139434G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1836C>T	16.37:g.3139434G>A						ZSCAN10_ENST00000575108.1_Silent_p.C273C|ZSCAN10_ENST00000538082.2_Silent_p.C530C	p.C612C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1923	-			612					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1836C>T	CCDS10493.1																																																																																				0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		17	17	0	0	0	1	0	17	17				
P2RY12	64805	broad.mit.edu	37	3	151056190	151056190	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151056190G>T	ENST00000302632.3	-	3	743	c.444C>A	c.(442-444)atC>atA	p.I148I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGAATGCCCAGATGACAACAG	0.438																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(442-444)atC>atA		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						98.0	101.0	100.0					3																	151056190		2203	4300	6503	SO:0001819	synonymous_variant	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151056190G>T	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.444C>A	3.37:g.151056190G>T						MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.I148I	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	743	-			148					D3DNJ5|Q546J7	Silent	SNP	ENST00000302632.3	37	c.444C>A	CCDS3159.1																																																																																				0.438	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			4	92	1	0	0.150653	1	0.152692	4	92				
DCST2	127579	broad.mit.edu	37	1	154997063	154997063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154997063G>T	ENST00000368424.3	-	11	1685	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	DCST2_ENST00000295536.5_Missense_Mutation_p.L543M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	543						integral component of membrane (GO:0016021)		p.L543M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACATTGTACAGGTAGGAGATC	0.592																																						ENST00000368424.3																			1	Substitution - Missense(1)	p.L543M(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1627-1629)Ctg>Atg		DC-STAMP domain containing 2							79.0	66.0	71.0					1																	154997063		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154997063G>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1627C>A	1.37:g.154997063G>T	ENSP00000357409:p.Leu543Met					DCST2_ENST00000295536.5_Missense_Mutation_p.L543M	p.L543M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	1685	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		543					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1627C>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802483	0.50315	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.74002	-0.8;-0.8	4.14	2.2	0.27929	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.49305	D	0.000143	T	0.79551	0.4465	M	0.83603	2.65	0.33825	D	0.629558	D	0.89917	1.0	D	0.97110	1.0	T	0.79431	-0.1806	10	0.72032	D	0.01	-26.8383	7.8724	0.29573	0.2042:0.0:0.7958:0.0	.	543	Q5T1A1	DCST2_HUMAN	M	543	ENSP00000357409:L543M;ENSP00000295536:L543M	ENSP00000295536:L543M	L	-	1	2	DCST2	153263687	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.366000	0.44204	0.961000	0.38030	0.462000	0.41574	CTG		0.592	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		4	31	1	0	0.184627	1	0.186383	4	31				
DDX39A	10212	broad.mit.edu	37	19	14521801	14521801	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14521801C>A	ENST00000242776.4	-	5	714	c.613G>T	c.(613-615)Gac>Tac	p.D205Y	DDX39A_ENST00000454233.2_Splice_Site_p.D205Y|DDX39A_ENST00000592927.1_5'UTR|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	205	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						GAGGACTCACCCAGCTGCTCC	0.617																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.e5+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A							48.0	45.0	46.0					19																	14521801		2203	4300	6503	SO:0001630	splice_region_variant	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14521801C>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.613+1G>T	19.37:g.14521801C>A						DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Splice_Site_p.D205_splice	p.D205_splice	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			5	714	-			205			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Splice_Site	SNP	ENST00000242776.4	37	c.613_splice	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648418	0.47258	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.15834	3.51;2.39;2.39	4.64	3.6	0.41247	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.104725	0.64402	D	0.000007	T	0.20414	0.0491	M	0.76170	2.325	0.80722	D	1	B;B	0.32302	0.363;0.033	B;B	0.34093	0.175;0.048	T	0.02721	-1.1119	9	.	.	.	-40.4231	9.7703	0.40585	0.0:0.8986:0.0:0.1014	.	205;205	B1Q2N1;O00148	.;DX39A_HUMAN	Y	248;205;205;205	ENSP00000242776:D205Y;ENSP00000322749:D205Y;ENSP00000392929:D205Y	.	D	-	1	0	DDX39A	14382801	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.191000	0.58372	2.132000	0.65825	0.655000	0.94253	GAC		0.617	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998	Missense_Mutation	10	17	1	0	0.335167	1	0.336617	10	17				
CPED1	79974	broad.mit.edu	37	7	120739988	120739988	+	Missense_Mutation	SNP	C	C	T	rs200638100		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:120739988C>T	ENST00000310396.5	+	7	1225	c.758C>T	c.(757-759)aCg>aTg	p.T253M	CPED1_ENST00000450913.2_Missense_Mutation_p.T253M|CPED1_ENST00000423795.1_Missense_Mutation_p.T33M	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	253						endoplasmic reticulum (GO:0005783)											AGGAATGAAACGACAGTCCTT	0.378													c|||	1	0.000199681	0.0	0.0014	5008	,	,		17873	0.0		0.0	False		,,,				2504	0.0					ENST00000310396.5																			0											c.(757-759)aCg>aTg		cadherin-like and PC-esterase domain containing 1							110.0	98.0	102.0					7																	120739988		2203	4300	6503	SO:0001583	missense	79974							g.chr7:120739988C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.758C>T	7.37:g.120739988C>T	ENSP00000309772:p.Thr253Met					CPED1_ENST00000450913.2_Missense_Mutation_p.T253M|CPED1_ENST00000423795.1_Missense_Mutation_p.T33M	p.T253M	NM_024913.4	NP_079189.4					7	1225	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.758C>T	CCDS34739.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	11.82	1.752939	0.31046	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.48836	2.13;0.8;1.81;1.75;1.32	5.48	4.61	0.57282	.	0.294653	0.33732	N	0.004609	T	0.65080	0.2657	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.983;0.956	T	0.67051	-0.5768	10	0.62326	D	0.03	-15.0296	8.755	0.34639	0.0:0.828:0.0:0.172	.	33;253;253	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	M	253;253;253;33;33	ENSP00000309772:T253M;ENSP00000398082:T253M;ENSP00000406122:T253M;ENSP00000415573:T33M;ENSP00000391952:T33M	ENSP00000309772:T253M	T	+	2	0	C7orf58	120527224	0.857000	0.29778	0.970000	0.41538	0.028000	0.11728	1.382000	0.34374	1.346000	0.45694	-0.196000	0.12772	ACG		0.378	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		14	64	0	0	0	1	0	14	64				
CSMD1	64478	broad.mit.edu	37	8	4494922	4494922	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:4494922C>A	ENST00000520002.1	-	2	799	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	CSMD1_ENST00000542608.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.D82Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.D82Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	82	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATATCAAAATCTTCTTCAAGA	0.408																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(244-246)Gat>Tat		CUB and Sushi multiple domains 1							126.0	126.0	126.0					8																	4494922		1895	4137	6032	SO:0001583	missense	64478					integral to membrane		g.chr8:4494922C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.244G>T	8.37:g.4494922C>A	ENSP00000430733:p.Asp82Tyr					CSMD1_ENST00000542608.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.D82Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.D82Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.D82Y	p.D82Y			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	799	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	82			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.244G>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.647580	0.87958	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.12	5.12	0.69794	.	.	.	.	.	T	0.46190	0.1380	L	0.37630	1.12	0.45962	D	0.998786	D	0.89917	1.0	D	0.73708	0.981	T	0.44283	-0.9338	9	0.72032	D	0.01	.	16.0542	0.80782	0.0:1.0:0.0:0.0	.	82	E5RIG2	.	Y	82	ENSP00000383047:D82Y;ENSP00000430733:D82Y;ENSP00000441462:D82Y;ENSP00000446243:D82Y;ENSP00000441675:D82Y	ENSP00000383047:D82Y	D	-	1	0	CSMD1	4482330	1.000000	0.71417	0.896000	0.35187	0.986000	0.74619	7.755000	0.85180	2.401000	0.81631	0.585000	0.79938	GAT		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	100	1	0	0.00909568	1	0.00947522	4	100				
USP49	25862	broad.mit.edu	37	6	41773651	41773651	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773651G>T	ENST00000394253.3	-	3	1400	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	USP49_ENST00000373010.1_Silent_p.L357L|USP49_ENST00000297229.2_Silent_p.L357L|USP49_ENST00000373009.3_Silent_p.L357L|USP49_ENST00000373006.1_Silent_p.L357L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	357	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTCACGGCAGAGGGAAATGT	0.602																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1069-1071)ctC>ctA		ubiquitin specific peptidase 49							65.0	64.0	65.0					6																	41773651		2203	4300	6503	SO:0001819	synonymous_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773651G>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1071C>A	6.37:g.41773651G>T						USP49_ENST00000373006.1_Silent_p.L357L|USP49_ENST00000297229.2_Silent_p.L357L|USP49_ENST00000373009.3_Silent_p.L357L|USP49_ENST00000373010.1_Silent_p.L357L	p.L357L			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1400	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		357					Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37	c.1071C>A																																																																																					0.602	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		10	23	1	0	1.58986e-06	1	1.84011e-06	10	23				
MED1	5469	broad.mit.edu	37	17	37587409	37587409	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37587409A>C	ENST00000394287.3	-	9	813	c.608T>G	c.(607-609)aTt>aGt	p.I203S	MED1_ENST00000300651.6_Missense_Mutation_p.I203S			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCATGAAGAATCTTATCCAA	0.393										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(607-609)aTt>aGt		mediator complex subunit 1							242.0	194.0	210.0					17																	37587409		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37587409A>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.608T>G	17.37:g.37587409A>C	ENSP00000377828:p.Ile203Ser	HNSCC(31;0.082)				MED1_ENST00000394287.3_Missense_Mutation_p.I203S	p.I203S	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	9	831	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	203			Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37	c.608T>G		.	.	.	.	.	.	.	.	.	.	A	26.6	4.754857	0.89843	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.39997	1.05	5.58	5.58	0.84498	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.56262	0.1973	M	0.68593	2.085	0.51233	D	0.999917	P;P	0.49185	0.92;0.763	P;B	0.53313	0.723;0.308	T	0.60959	-0.7159	9	0.87932	D	0	-4.4963	15.5473	0.76112	1.0:0.0:0.0:0.0	.	203;203	Q15648;Q15648-3	MED1_HUMAN;.	S	203	ENSP00000300651:I203S	ENSP00000300651:I203S	I	-	2	0	MED1	34840935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.431000	0.90285	2.142000	0.66516	0.445000	0.29226	ATT		0.393	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		5	110	0	0	0	1	0	5	110				
CD1E	913	broad.mit.edu	37	1	158326667	158326667	+	Missense_Mutation	SNP	G	G	A	rs369346814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158326667G>A	ENST00000368167.3	+	6	1387	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	CD1E_ENST00000368163.3_Missense_Mutation_p.R316H|CD1E_ENST00000368154.1_Missense_Mutation_p.R139H|CD1E_ENST00000368157.1_Missense_Mutation_p.R127H|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368155.3_Missense_Mutation_p.R226H|CD1E_ENST00000444681.2_Missense_Mutation_p.R284H|CD1E_ENST00000368160.3_Missense_Mutation_p.R371H|CD1E_ENST00000368156.1_Missense_Mutation_p.R281H|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.R194H|CD1E_ENST00000368165.3_Missense_Mutation_p.R293H|CD1E_ENST00000368166.3_Missense_Mutation_p.R182H	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	383					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGAAGACACGCCTAAACCAA	0.423																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(850-852)cGc>cAc		CD1e molecule		G	HIS/ARG,,HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3838		0,0,1919	103.0	100.0	101.0		1112,,947,545,,878,677,380,581,416,851,842,1148	-2.0	0.0	1		101	1,8269		0,1,4134	no	missense,utr-3,missense,missense,utr-3,missense,missense,missense,missense,missense,missense,missense,missense	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	29,,29,29,,29,29,29,29,29,29,29,29	0,1,6053	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging,,possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	371/377,,316/322,182/188,,293/299,226/232,127/133,194/200,139/145,284/290,281/287,383/389	158326667	1,12107	1919	4135	6054	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326667G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1148G>A	1.37:g.158326667G>A	ENSP00000357149:p.Arg383His					CD1E_ENST00000368154.1_Missense_Mutation_p.R139H|CD1E_ENST00000452291.2_Missense_Mutation_p.R194H|CD1E_ENST00000368166.3_Missense_Mutation_p.R182H|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R316H|CD1E_ENST00000368157.1_Missense_Mutation_p.R127H|CD1E_ENST00000368156.1_Missense_Mutation_p.R281H|CD1E_ENST00000368167.3_Missense_Mutation_p.R383H|CD1E_ENST00000368155.3_Missense_Mutation_p.R226H|CD1E_ENST00000368165.3_Missense_Mutation_p.R293H|CD1E_ENST00000368160.3_Missense_Mutation_p.R371H	p.R284H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			5	1144	+	all_hematologic(112;0.0378)		383			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.851G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289792	0.40494	0.0	1.21E-4	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.50277	5.1;4.57;3.3;3.34;3.49;3.33;0.75;4.66;3.52;3.42;0.76	3.9	-1.99	0.07457	.	0.808894	0.10732	N	0.640525	T	0.29850	0.0746	L	0.44542	1.39	0.09310	N	1	D;D;D;D;D;P;D;P;D;D	0.71674	0.975;0.964;0.976;0.981;0.994;0.923;0.985;0.954;0.998;0.976	P;P;B;P;P;B;P;P;P;B	0.58660	0.557;0.559;0.272;0.454;0.669;0.118;0.536;0.454;0.843;0.36	T	0.08391	-1.0724	10	0.62326	D	0.03	0.2428	2.561	0.04771	0.1021:0.1456:0.2531:0.4992	.	284;293;226;182;371;383;194;139;281;316	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	H	284;383;194;293;182;316;127;371;281;226;139	ENSP00000402906:R284H;ENSP00000357149:R383H;ENSP00000416228:R194H;ENSP00000357147:R293H;ENSP00000357148:R182H;ENSP00000357145:R316H;ENSP00000357139:R127H;ENSP00000357142:R371H;ENSP00000357138:R281H;ENSP00000357137:R226H;ENSP00000357136:R139H	ENSP00000357136:R139H	R	+	2	0	CD1E	156593291	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	-0.358000	0.08162	-0.140000	0.14226	CGC		0.423	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		24	63	0	0	0	1	0	24	63				
SNX33	257364	broad.mit.edu	37	15	75942139	75942139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942139C>A	ENST00000308527.5	+	1	1893	c.696C>A	c.(694-696)tgC>tgA	p.C232*	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	232	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CATTTGCCTGCTCTGTGGAGG	0.562																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(694-696)tgC>tgA		sorting nexin 33							122.0	112.0	115.0					15																	75942139		2197	4294	6491	SO:0001587	stop_gained	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942139C>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.696C>A	15.37:g.75942139C>A	ENSP00000311427:p.Cys232*						p.C232*	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1893	+			232			PX.		B1NM17	Nonsense_Mutation	SNP	ENST00000308527.5	37	c.696C>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643830	0.87859	.	.	ENSG00000173548	ENST00000308527	.	.	.	4.88	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6979	10.6589	0.45690	0.0:0.8366:0.0:0.1634	.	.	.	.	X	232	.	ENSP00000311427:C232X	C	+	3	2	SNX33	73729194	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.265000	0.33027	1.283000	0.44513	0.555000	0.69702	TGC		0.562	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		5	99	1	0	0.00116845	1	0.00124821	5	99				
CC2D1A	54862	broad.mit.edu	37	19	14034193	14034193	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14034193G>A	ENST00000318003.7	+	15	1930	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	CC2D1A_ENST00000589606.1_Silent_p.R563R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	563					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCCAGCGGCCTGGCCCGG	0.682																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1687-1689)cgG>cgA		coiled-coil and C2 domain containing 1A							53.0	58.0	56.0					19																	14034193		1995	4138	6133	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14034193G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1689G>A	19.37:g.14034193G>A						CC2D1A_ENST00000589606.1_Silent_p.R563R	p.R563R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		15	1930	+			563					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.1689G>A	CCDS42512.1																																																																																				0.682	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		27	43	0	0	0	1	0	27	43				
CSNK1D	1453	broad.mit.edu	37	17	80211027	80211027	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80211027G>T	ENST00000314028.6	-	4	779	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	CSNK1D_ENST00000392334.2_Missense_Mutation_p.L144M|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.L144M	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ATGTACACCAGGTTGCCCTTC	0.547																																						ENST00000314028.6																			0				breast(2)|large_intestine(2)|lung(7)	11						c.(430-432)Ctg>Atg		casein kinase 1, delta							324.0	252.0	276.0					17																	80211027		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80211027G>T		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.430C>A	17.37:g.80211027G>T	ENSP00000324464:p.Leu144Met					CSNK1D_ENST00000398519.5_Missense_Mutation_p.L144M|CSNK1D_ENST00000392334.2_Missense_Mutation_p.L144M|CSNK1D_ENST00000578904.1_5'UTR	p.L144M	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		4	779	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		144			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.430C>A	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	6.866	0.529202	0.13127	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T	0.06528	3.29;3.29	5.64	2.58	0.30949	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.065451	0.64402	D	0.000006	T	0.12902	0.0313	L	0.51422	1.61	0.51482	D	0.999929	P;D;P	0.53885	0.575;0.963;0.922	B;P;P	0.53809	0.317;0.63;0.735	T	0.00516	-1.1694	10	0.44086	T	0.13	.	13.1784	0.59641	0.1942:0.0:0.8058:0.0	.	144;144;87	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	M	144;144;87;36	ENSP00000324464:L144M;ENSP00000376146:L144M	ENSP00000269361:L36M	L	-	1	2	CSNK1D	77804316	1.000000	0.71417	0.995000	0.50966	0.278000	0.26855	4.169000	0.58223	0.080000	0.16959	-1.814000	0.00607	CTG		0.547	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		56	80	1	0	6.20203e-27	1	8.2679e-27	56	80				
CKAP5	9793	broad.mit.edu	37	11	46773018	46773018	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46773018G>T	ENST00000529230.1	-	39	5246	c.5200C>A	c.(5200-5202)Ctg>Atg	p.L1734M	CKAP5_ENST00000354558.3_Missense_Mutation_p.L1674M|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1674M|CKAP5_ENST00000415402.1_Missense_Mutation_p.L1734M|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1734					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGATATCCAGAAGAATTCTG	0.398																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(5200-5202)Ctg>Atg		cytoskeleton associated protein 5							166.0	167.0	167.0					11																	46773018		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46773018G>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5200C>A	11.37:g.46773018G>T	ENSP00000432768:p.Leu1734Met					CKAP5_ENST00000354558.3_Missense_Mutation_p.L1674M|CKAP5_ENST00000415402.1_Missense_Mutation_p.L1734M|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1674M	p.L1734M			Q14008	CKAP5_HUMAN			39	5246	-			1734					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.5200C>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084627	0.55861	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.70045	-0.45;-0.45;0.47;0.47	5.42	1.48	0.22813	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	M	0.63843	1.955	0.45378	D	0.998364	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.85130	0.989;0.997;0.994	T	0.72997	-0.4121	10	0.54805	T	0.06	-11.9752	9.2252	0.37402	0.3583:0.0:0.6417:0.0	.	1734;1674;1734	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	M	1734;1734;1674;1674	ENSP00000432768:L1734M;ENSP00000395302:L1734M;ENSP00000310227:L1674M;ENSP00000346566:L1674M	ENSP00000310227:L1674M	L	-	1	2	CKAP5	46729594	0.994000	0.37717	0.999000	0.59377	0.866000	0.49608	2.013000	0.40942	0.277000	0.22141	-0.229000	0.12294	CTG		0.398	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		62	102	1	0	2.50483e-33	1	3.36404e-33	62	102				
HOOK1	51361	broad.mit.edu	37	1	60324163	60324163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60324163C>T	ENST00000371208.3	+	13	1563	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q394*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	436	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCACAAGTACAACAGGACCA	0.343																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1306-1308)Caa>Taa		hook microtubule-tethering protein 1							86.0	89.0	88.0					1																	60324163		2203	4300	6503	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60324163C>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1306C>T	1.37:g.60324163C>T	ENSP00000360252:p.Gln436*					HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q394*	p.Q436*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			13	1563	+	all_cancers(7;0.000129)		436			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.1306C>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	39	7.636099	0.98403	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	15.3769	0.74615	0.0:1.0:0.0:0.0	.	.	.	.	X	436;394	.	ENSP00000360252:Q436X	Q	+	1	0	HOOK1	60096751	1.000000	0.71417	0.984000	0.44739	0.930000	0.56654	6.543000	0.73874	2.287000	0.76781	0.462000	0.41574	CAA		0.343	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		22	32	0	0	0	1	0	22	32				
BRF1	2972	broad.mit.edu	37	14	105677540	105677540	+	Missense_Mutation	SNP	C	C	T	rs369638144		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105677540C>T	ENST00000546474.1	-	17	16874	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	639					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1915-1917)Gac>Aac		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	66.0	63.0	64.0		1636,1570,1834,1201,1915,1303	4.3	0.1	14		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	BRF1	NM_001242786.1,NM_001242787.1,NM_001242788.1,NM_001242789.1,NM_001519.3,NM_145685.2	23,23,23,23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	546/585,524/563,612/651,401/440,639/678,435/474	105677540	1,13005	2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105677540C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1915G>A	14.37:g.105677540C>T	ENSP00000448323:p.Asp639Asn					BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N	p.D639N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	17	16874	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	639					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.1915G>A	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	9.985	1.229220	0.22542	0.0	1.16E-4	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000547530;ENST00000446501;ENST00000327359;ENST00000440513	.	.	.	4.28	4.28	0.50868	.	0.614688	0.14698	N	0.303723	T	0.42562	0.1208	L	0.29908	0.895	0.80722	D	1	P;P;P	0.52577	0.709;0.954;0.871	B;B;B	0.43386	0.115;0.418;0.143	T	0.21621	-1.0240	9	0.29301	T	0.29	.	12.9622	0.58464	0.0:1.0:0.0:0.0	.	546;612;639	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	N	435;612;639;165;401;524;546	.	ENSP00000329029:D524N	D	-	1	0	BRF1	104748585	0.789000	0.28775	0.110000	0.21437	0.025000	0.11179	5.438000	0.66550	2.328000	0.79073	0.655000	0.94253	GAC		0.682	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		24	18	0	0	0	1	0	24	18				
TTN	7273	broad.mit.edu	37	2	179453593	179453593	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179453593T>C	ENST00000591111.1	-	254	58160	c.57936A>G	c.(57934-57936)aaA>aaG	p.K19312K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.K11888K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K12013K|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.K18385K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.K20953K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.K12080K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19312	Fibronectin type-III 39. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGACTGGTTTACTTTCTG	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(62857-62859)aaA>aaG		titin							57.0	55.0	55.0					2																	179453593		1863	4109	5972	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453593T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57936A>G	2.37:g.179453593T>C						TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.K11888K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.K18385K|TTN_ENST00000359218.5_Silent_p.K12013K|TTN_ENST00000342175.6_Silent_p.K12080K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.K19312K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.K20953K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	63083	-			19312			Ig-like 112.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.62859A>G																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	42	0	0	0	1	0	14	42				
MPRIP	23164	broad.mit.edu	37	17	17079821	17079821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17079821C>A	ENST00000341712.4	+	20	2791	c.2791C>A	c.(2791-2793)Ctg>Atg	p.L931M	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.L893M|RN7SL775P_ENST00000498361.2_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.L931M|MPRIP_ENST00000395811.5_Missense_Mutation_p.L931M			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	931						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAGACGGCACTGCGGGTAAG	0.562																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2791-2793)Ctg>Atg		myosin phosphatase Rho interacting protein							93.0	94.0	93.0					17																	17079821		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17079821C>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2791C>A	17.37:g.17079821C>A	ENSP00000342379:p.Leu931Met					MPRIP_ENST00000395804.3_Missense_Mutation_p.L931M|MPRIP_ENST00000341712.4_Missense_Mutation_p.L931M|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.L893M	p.L931M	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			20	2880	+			931					Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2791C>A	CCDS32578.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.83|12.83|12.83	2.056262|2.056262|2.056262	0.36277|0.36277|0.36277	.|.|.	.|.|.	ENSG00000133030|ENSG00000133030|ENSG00000133030	ENST00000414263|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184|ENST00000313485	.|T;T;T;T|.	.|0.24350|.	.|1.86;2.18;2.18;2.18|.	4.76|4.76|4.76	-1.2|-1.2|-1.2	0.09554|0.09554|0.09554	.|.|.	.|0.176140|.	.|0.37348|.	.|N|.	.|0.002123|.	T|T|T	0.40595|0.40595|0.40595	0.1123|0.1123|0.1123	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.25870|0.25870|0.25870	N|N|N	0.983722|0.983722|0.983722	.|D;D;D;D;D|.	.|0.89917|.	.|0.999;1.0;1.0;0.996;0.996|.	.|D;D;D;D;P|.	.|0.97110|.	.|0.991;0.998;1.0;0.93;0.896|.	T|T|T	0.39941|0.39941|0.39941	-0.9589|-0.9589|-0.9589	5|10|5	.|0.54805|.	.|T|.	.|0.06|.	-11.3682|-11.3682|-11.3682	10.148|10.148|10.148	0.42776|0.42776|0.42776	0.0:0.5989:0.0:0.4011|0.0:0.5989:0.0:0.4011|0.0:0.5989:0.0:0.4011	.|.|.	.|930;893;1295;931;931|.	.|B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.|.;.;.;.;MPRIP_HUMAN|.	Q|M|N	996|893;931;931;931;87|1295	.|ENSP00000400189:L893M;ENSP00000379156:L931M;ENSP00000379149:L931M;ENSP00000342379:L931M|.	.|ENSP00000342379:L931M|.	H|L|T	+|+|+	3|1|2	2|2|0	MPRIP|MPRIP|MPRIP	17020546|17020546|17020546	0.056000|0.056000|0.056000	0.20664|0.20664|0.20664	0.015000|0.015000|0.015000	0.15790|0.15790|0.15790	0.757000|0.757000|0.757000	0.42996|0.42996|0.42996	0.205000|0.205000|0.205000	0.17356|0.17356|0.17356	-0.526000|-0.526000|-0.526000	0.06383|0.06383|0.06383	-0.367000|-0.367000|-0.367000	0.07326|0.07326|0.07326	CAC|CTG|ACT		0.562	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		6	57	1	0	0.0215528	1	0.0221649	6	57				
DHX30	22907	broad.mit.edu	37	3	47889410	47889410	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47889410G>A	ENST00000445061.1	+	14	2657	c.2250G>A	c.(2248-2250)ggG>ggA	p.G750G	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Silent_p.G722G|DHX30_ENST00000446256.2_Silent_p.G711G|DHX30_ENST00000457607.1_Silent_p.G778G	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	750	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGACAGTGGGCTGCACAAGG	0.577																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2131-2133)ggG>ggA		DEAH (Asp-Glu-Ala-His) box helicase 30							146.0	124.0	131.0					3																	47889410		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889410G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2250G>A	3.37:g.47889410G>A						DHX30_ENST00000445061.1_Silent_p.G750G|DHX30_ENST00000348968.4_Silent_p.G722G|DHX30_ENST00000457607.1_Silent_p.G778G	p.G711G	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2705	+			750			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.2133G>A	CCDS2759.1																																																																																				0.577	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	62	0	0	0	1	0	4	62				
SMARCAD1	56916	broad.mit.edu	37	4	95185933	95185933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95185933G>A	ENST00000354268.4	+	10	1430	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D453N|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.D23N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	453					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCAAGAAAGAGATGTAGTTAT	0.323																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1357-1359)Gat>Aat		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							95.0	92.0	93.0					4																	95185933		2203	4299	6502	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95185933G>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1357G>A	4.37:g.95185933G>A	ENSP00000346217:p.Asp453Asn					SMARCAD1_ENST00000509418.1_Missense_Mutation_p.D23N|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D453N	p.D453N			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	10	1430	+			453					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1357G>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	8.204	0.798821	0.16397	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.91011	-2.27;-2.27;-2.27;-2.77	5.84	5.84	0.93424	.	0.000000	0.49305	D	0.000155	T	0.79516	0.4459	N	0.02916	-0.46	0.45005	D	0.998025	B;B	0.14805	0.006;0.011	B;B	0.15484	0.006;0.013	T	0.74774	-0.3551	10	0.10377	T	0.69	-22.7244	20.1454	0.98074	0.0:0.0:1.0:0.0	.	453;453	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	N	453;453;453;23	ENSP00000351947:D453N;ENSP00000415576:D453N;ENSP00000346217:D453N;ENSP00000423286:D23N	ENSP00000346217:D453N	D	+	1	0	SMARCAD1	95404956	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.096000	0.71446	2.748000	0.94277	0.650000	0.86243	GAT		0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		32	38	0	0	0	1	0	32	38				
ARID2	196528	broad.mit.edu	37	12	46211663	46211663	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46211663T>C	ENST00000334344.6	+	5	801	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ARID2_ENST00000422737.1_Missense_Mutation_p.F61S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	210					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCGGGGTGTTTGACGACAGT	0.318			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(628-630)tTt>tCt		AT rich interactive domain 2 (ARID, RFX-like)							56.0	51.0	52.0					12																	46211663		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46211663T>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.629T>C	12.37:g.46211663T>C	ENSP00000335044:p.Phe210Ser					ARID2_ENST00000422737.1_Missense_Mutation_p.F61S	p.F210S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	5	801	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	210					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.629T>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704551	0.68615	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T	0.36878	1.23	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.63051	-0.6723	10	0.87932	D	0	-11.8541	15.2683	0.73681	0.0:0.0:0.0:1.0	.	210	Q68CP9	ARID2_HUMAN	S	210;61	ENSP00000335044:F210S	ENSP00000335044:F210S	F	+	2	0	ARID2	44497930	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.996000	0.88334	2.005000	0.58758	0.374000	0.22700	TTT		0.318	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	32	0	0	0	1	0	7	32				
KIRREL3	84623	broad.mit.edu	37	11	126333072	126333072	+	Missense_Mutation	SNP	G	G	A	rs372786849		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126333072G>A	ENST00000525144.2	-	6	971	c.722C>T	c.(721-723)tCg>tTg	p.S241L	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S241L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.S241L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	241	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AATGGTGACCGACGTCTCCTT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17748	0.001		0.0	False		,,,				2504	0.0					ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(721-723)tCg>tTg		kin of IRRE like 3 (Drosophila)		G	LEU/SER,LEU/SER	1,4315		0,1,2157	107.0	110.0	109.0		722,722	5.1	0.6	11		109	0,8476		0,0,4238	no	missense,missense	KIRREL3	NM_001161707.1,NM_032531.3	145,145	0,1,6395	AA,AG,GG		0.0,0.0232,0.0078	possibly-damaging,possibly-damaging	241/601,241/779	126333072	1,12791	2158	4238	6396	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126333072G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.722C>T	11.37:g.126333072G>A	ENSP00000435466:p.Ser241Leu					KIRREL3_ENST00000529097.2_Missense_Mutation_p.S241L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.S241L	p.S241L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	6	971	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	241			Ig-like C2-type 2.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.722C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764459	0.49574	2.32E-4	0.0	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	D;D;D	0.86769	-2.17;-2.17;-2.17	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145674	0.47093	D	0.000245	D	0.89375	0.6697	M	0.65498	2.005	0.80722	D	1	P;P;D	0.55172	0.78;0.704;0.97	B;B;P	0.49252	0.173;0.196;0.604	D	0.90875	0.4749	10	0.72032	D	0.01	.	17.518	0.87779	0.0:0.0:1.0:0.0	.	241;241;241	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	L	241	ENSP00000435466:S241L;ENSP00000434081:S241L;ENSP00000435094:S241L	ENSP00000435466:S241L	S	-	2	0	KIRREL3	125838282	0.998000	0.40836	0.584000	0.28653	0.387000	0.30353	3.856000	0.55964	2.380000	0.81148	0.448000	0.29417	TCG		0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		5	53	0	0	0	1	0	5	53				
OPN3	23596	broad.mit.edu	37	1	241757990	241757990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241757990G>A	ENST00000366554.2	-	4	1055	c.949C>T	c.(949-951)Cga>Tga	p.R317*	KMO_ENST00000366557.4_3'UTR|OPN3_ENST00000331838.5_Nonsense_Mutation_p.R238*|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	317					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGGATCTTCGAAACTGGGCA	0.438																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(949-951)Cga>Tga		opsin 3							63.0	68.0	66.0					1																	241757990		2203	4300	6503	SO:0001587	stop_gained	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241757990G>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.949C>T	1.37:g.241757990G>A	ENSP00000355512:p.Arg317*					KMO_ENST00000366557.4_3'UTR|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000331838.5_Nonsense_Mutation_p.R238*	p.R317*	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		4	1055	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	317					Q8IX08|Q9Y344	Nonsense_Mutation	SNP	ENST00000366554.2	37	c.949C>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887322	0.91814	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	.	.	.	4.11	2.19	0.27852	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.928	0.24426	0.0909:0.0:0.7372:0.172	.	.	.	.	X	317;238	.	ENSP00000328018:R238X	R	-	1	2	OPN3	239824613	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	4.364000	0.59479	0.476000	0.27440	0.650000	0.86243	CGA		0.438	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		4	63	0	0	0	1	0	4	63				
HID1	283987	broad.mit.edu	37	17	72954809	72954809	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72954809A>G	ENST00000425042.2	-	10	1276	c.1199T>C	c.(1198-1200)gTc>gCc	p.V400A		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	400					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GAGGATGGGGACAAGGATGTC	0.622											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425042.2																			0											c.(1198-1200)gTc>gCc		HID1 domain containing							61.0	61.0	61.0					17																	72954809		2203	4300	6503	SO:0001583	missense	283987							g.chr17:72954809A>G		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1199T>C	17.37:g.72954809A>G	ENSP00000413520:p.Val400Ala		OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141		p.V400A	NM_030630.2	NP_085133.1					10	1276	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1199T>C	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605174	0.46423	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	D	0.89810	-2.57	4.82	4.82	0.62117	.	0.206886	0.40640	N	0.001045	D	0.89371	0.6696	M	0.69823	2.125	0.58432	D	0.999997	B	0.25105	0.118	B	0.33392	0.163	D	0.88537	0.3107	10	0.72032	D	0.01	-17.0773	14.4274	0.67225	1.0:0.0:0.0:0.0	.	400	Q8IV36	CQ028_HUMAN	A	172;400;172	ENSP00000317795:V172A	ENSP00000317795:V172A	V	-	2	0	C17orf28	70466404	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	8.929000	0.92859	1.816000	0.52996	0.369000	0.22263	GTC		0.622	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		16	26	0	0	0	1	0	16	26				
ARID5B	84159	broad.mit.edu	37	10	63851262	63851262	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63851262T>C	ENST00000279873.7	+	10	2450	c.2040T>C	c.(2038-2040)tcT>tcC	p.S680S	ARID5B_ENST00000309334.5_Silent_p.S437S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	680					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCTCTACTCTAGGGGCAACC	0.542																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(2038-2040)tcT>tcC		AT rich interactive domain 5B (MRF1-like)							55.0	52.0	53.0					10																	63851262		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851262T>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2040T>C	10.37:g.63851262T>C						ARID5B_ENST00000309334.5_Silent_p.S437S	p.S680S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	2450	+	Prostate(12;0.016)|all_hematologic(501;0.215)		680					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.2040T>C	CCDS31208.1																																																																																				0.542	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		15	17	0	0	0	1	0	15	17				
MIS18BP1	55320	broad.mit.edu	37	14	45700410	45700410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45700410G>A	ENST00000310806.4	-	8	1986	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	510				R -> Q (in Ref. 1; BAB67796). {ECO:0000305}.	CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGGTTTTCTCGTGCATCATTT	0.373																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(1528-1530)Cga>Tga		MIS18 binding protein 1							246.0	195.0	213.0					14																	45700410		2203	4300	6503	SO:0001587	stop_gained	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45700410G>A	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1528C>T	14.37:g.45700410G>A	ENSP00000309790:p.Arg510*						p.R510*	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			8	1986	-			510	R -> Q (in Ref. 1; BAB67796).				D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Nonsense_Mutation	SNP	ENST00000310806.4	37	c.1528C>T	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	37	6.052225	0.97236	.	.	ENSG00000129534	ENST00000310806	.	.	.	4.77	-1.01	0.10169	.	1.756370	0.02378	N	0.078591	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	1.4088	4.5427	0.12066	0.0:0.3628:0.3204:0.3168	.	.	.	.	X	510	.	ENSP00000309790:R510X	R	-	1	2	MIS18BP1	44770160	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.112000	0.10791	-0.288000	0.09051	-0.518000	0.04402	CGA		0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			22	38	0	0	0	1	0	22	38				
KIF17	57576	broad.mit.edu	37	1	21031210	21031210	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031210C>T	ENST00000247986.2	-	5	1163	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	KIF17_ENST00000375044.1_Missense_Mutation_p.V185I|KIF17_ENST00000400463.3_Missense_Mutation_p.V285I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	285	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.V285I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGTAGGGGACGTGCTTACAG	0.652																																						ENST00000247986.2																			1	Substitution - Missense(1)	p.V285I(1)	stomach(1)	NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(853-855)Gtc>Atc		kinesin family member 17							82.0	77.0	79.0					1																	21031210		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031210C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.853G>A	1.37:g.21031210C>T	ENSP00000247986:p.Val285Ile					KIF17_ENST00000375044.1_Missense_Mutation_p.V185I|KIF17_ENST00000400463.3_Missense_Mutation_p.V285I	p.V285I			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1163	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	285					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.853G>A	CCDS213.1	.	.	.	.	.	.	.	.	.	.	T	3.289	-0.145347	0.06627	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.74947	-0.89;-0.89;-0.89	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.000000	0.33057	N	0.005340	T	0.45013	0.1321	N	0.02736	-0.51	0.21604	N	0.999628	B;B	0.26041	0.017;0.14	B;B	0.26517	0.013;0.07	T	0.41413	-0.9510	10	0.02654	T	1	.	9.2965	0.37819	0.0:0.1526:0.0:0.8474	.	285;285	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	I	185;285;285	ENSP00000364184:V185I;ENSP00000383311:V285I;ENSP00000247986:V285I	ENSP00000247986:V285I	V	-	1	0	KIF17	20903797	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.143000	0.31553	0.907000	0.36646	-0.521000	0.04368	GTC		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		21	27	0	0	0	1	0	21	27				
NMBR	4829	broad.mit.edu	37	6	142409507	142409507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142409507C>T	ENST00000258042.1	-	1	429	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	97					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCCACCGGGACGCAGGTGAGC	0.592																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(289-291)Gtc>Atc		neuromedin B receptor							70.0	62.0	65.0					6																	142409507		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409507C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.289G>A	6.37:g.142409507C>T	ENSP00000258042:p.Val97Ile					RP11-137J7.2_ENST00000454401.1_RNA	p.V97I	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	429	-	Breast(32;0.155)		97					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.289G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623761	0.87460	.	.	ENSG00000135577	ENST00000258042	T	0.26067	1.76	5.61	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.052638	0.85682	N	0.000000	T	0.27765	0.0683	L	0.41124	1.26	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.01904	-1.1250	10	0.30078	T	0.28	-32.2727	15.7948	0.78401	0.0:0.9275:0.0:0.0725	.	97	P28336	NMBR_HUMAN	I	97	ENSP00000258042:V97I	ENSP00000258042:V97I	V	-	1	0	NMBR	142451200	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.290000	0.51755	0.876000	0.35872	-0.710000	0.03640	GTC		0.592	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			7	18	0	0	0	1	0	7	18				
CLTCL1	8218	broad.mit.edu	37	22	19207451	19207451	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19207451C>T	ENST00000263200.10	-	18	2934	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E	CLTCL1_ENST00000353891.5_Silent_p.E954E|CLTCL1_ENST00000427926.1_Silent_p.E954E	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	954	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAGCCCAGAGCTCCGGATCCT	0.527			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2860-2862)gaG>gaA		clathrin, heavy chain-like 1							128.0	132.0	130.0					22																	19207451		2040	4180	6220	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19207451C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2862G>A	22.37:g.19207451C>T						CLTCL1_ENST00000353891.5_Silent_p.E954E|CLTCL1_ENST00000427926.1_Silent_p.E954E	p.E954E	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			18	2934	-	Colorectal(54;0.0993)		954			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.2862G>A	CCDS46662.1																																																																																				0.527	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		39	70	0	0	0	1	0	39	70				
KIAA1210	57481	broad.mit.edu	37	X	118242365	118242365	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118242365A>G	ENST00000402510.2	-	6	846	c.847T>C	c.(847-849)Tca>Cca	p.S283P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	283										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAGCTCCTGACATGGCTCCA	0.483																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(847-849)Tca>Cca		KIAA1210							119.0	114.0	116.0					X																	118242365		1978	4159	6137	SO:0001583	missense	57481							g.chrX:118242365A>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.847T>C	X.37:g.118242365A>G	ENSP00000384670:p.Ser283Pro						p.S283P	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			6	846	-			283					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.847T>C	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	9.512	1.106111	0.20632	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.11712	2.75	3.83	-2.61	0.06171	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.31351	0.32	B	0.27608	0.081	T	0.39231	-0.9624	9	0.23891	T	0.37	.	0.1381	0.00080	0.3415:0.1722:0.2409:0.2454	.	283	Q9ULL0	K1210_HUMAN	P	283;119	ENSP00000384670:S283P	ENSP00000396164:S119P	S	-	1	0	RP13-347D8.5;RP13-347D8.6	118126393	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.079000	0.14782	-0.576000	0.05974	-0.369000	0.07265	TCA		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		56	70	0	0	0	1	0	56	70				
IVNS1ABP	10625	broad.mit.edu	37	1	185277969	185277969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185277969G>T	ENST00000367498.3	-	5	942	c.320C>A	c.(319-321)tCt>tAt	p.S107Y	IVNS1ABP_ENST00000392007.3_De_novo_Start_OutOfFrame|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.S107Y	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	107					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTTTGCTGCAGAATAAACATC	0.294																																						ENST00000392007.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29								influenza virus NS1A binding protein							176.0	167.0	170.0					1																	185277969		2203	4299	6502	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185277969G>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.320C>A	1.37:g.185277969G>T	ENSP00000356468:p.Ser107Tyr					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367498.3_Missense_Mutation_p.S107Y|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.S107Y				Q9Y6Y0	NS1BP_HUMAN			0	550	-								A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Translation_Start_Site	SNP	ENST00000367498.3	37		CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825117	0.90955	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.68624	-0.34;-0.34	5.88	5.88	0.94601	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	L	0.43598	1.365	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.78147	-0.2317	10	0.66056	D	0.02	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	107	Q9Y6Y0	NS1BP_HUMAN	Y	107	ENSP00000356468:S107Y;ENSP00000356467:S107Y	ENSP00000356467:S107Y	S	-	2	0	IVNS1ABP	183544592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.789000	0.95967	0.591000	0.81541	TCT		0.294	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		5	120	1	0	0.000602214	1	0.000649039	5	120				
TM4SF19	116211	broad.mit.edu	37	3	196051280	196051280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196051280G>A	ENST00000273695.3	-	4	436	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TM4SF19_ENST00000446879.1_Missense_Mutation_p.A104V|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.A104V|TM4SF19_ENST00000454715.1_Missense_Mutation_p.A78V|TM4SF19-AS1_ENST00000452051.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	104						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCAAGTAAAGCCAGGCCACC	0.517																																						ENST00000446879.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(310-312)gCt>gTt		transmembrane 4 L six family member 19							68.0	61.0	63.0					3																	196051280		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196051280G>A	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.311C>T	3.37:g.196051280G>A	ENSP00000273695:p.Ala104Val					TM4SF19_ENST00000454715.1_Missense_Mutation_p.A78V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A104V|TM4SF19-AS1_ENST00000452051.1_RNA	p.A104V			Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	4	436	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		104					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.311C>T	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348235	0.82132	.	.	ENSG00000145107	ENST00000446879;ENST00000454715;ENST00000273695	T;T;T	0.33654	1.4;1.4;1.4	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.58779	0.2146	M	0.70595	2.14	0.45318	D	0.998311	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.87578	0.998;0.989;0.998	T	0.62900	-0.6756	10	0.87932	D	0	-9.9844	13.8107	0.63262	0.0:0.0:1.0:0.0	.	78;104;104	E9PH22;C9JCD5;Q96DZ7	.;.;T4S19_HUMAN	V	104;78;104	ENSP00000395280:A104V;ENSP00000387728:A78V;ENSP00000273695:A104V	ENSP00000273695:A104V	A	-	2	0	TM4SF19	197535677	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.665000	0.61547	2.311000	0.77944	0.563000	0.77884	GCT		0.517	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		16	25	0	0	0	1	0	16	25				
SUOX	6821	broad.mit.edu	37	12	56398397	56398397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56398397C>A	ENST00000394109.3	+	3	1948	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	SUOX_ENST00000266971.3_Missense_Mutation_p.D408E|SUOX_ENST00000548274.1_Missense_Mutation_p.D408E|SUOX_ENST00000394115.2_Missense_Mutation_p.D408E|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D408E			P51687	SUOX_HUMAN	sulfite oxidase	408	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CATCTGTGGACTGGGAGACTG	0.552																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(1222-1224)gaC>gaA		sulfite oxidase							76.0	83.0	81.0					12																	56398397		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398397C>A	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1224C>A	12.37:g.56398397C>A	ENSP00000377668:p.Asp408Glu					SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D408E|SUOX_ENST00000394115.2_Missense_Mutation_p.D408E|SUOX_ENST00000266971.3_Missense_Mutation_p.D408E|SUOX_ENST00000548274.1_Missense_Mutation_p.D408E	p.D408E			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	1948	+			408			Molybdenum-pterin domain (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.1224C>A	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225171	0.39300	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.12	4.23	0.50019	Oxidoreductase, molybdopterin-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.81942	2.565	0.46981	D	0.999271	B	0.24576	0.106	B	0.27715	0.082	D	0.90094	0.4179	10	0.49607	T	0.09	-10.4121	5.4626	0.16626	0.0:0.6602:0.1665:0.1733	.	408	P51687	SUOX_HUMAN	E	408	ENSP00000348440:D408E;ENSP00000266971:D408E;ENSP00000377674:D408E;ENSP00000450245:D408E;ENSP00000377668:D408E	ENSP00000266971:D408E	D	+	3	2	SUOX	54684664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.175000	0.31944	1.530000	0.49136	0.591000	0.81541	GAC		0.552	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		6	47	1	0	0.0293803	1	0.0301098	6	47				
GAPDHS	26330	broad.mit.edu	37	19	36034625	36034625	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36034625A>G	ENST00000222286.4	+	9	1068	c.952A>G	c.(952-954)Acc>Gcc	p.T318A	TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_5'Flank|TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	318					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGTGGACCTGACCTGCCGCCT	0.612																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(952-954)Acc>Gcc		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						59.0	60.0	60.0					19																	36034625		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36034625A>G	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.952A>G	19.37:g.36034625A>G	ENSP00000222286:p.Thr318Ala					AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	p.T318A	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		9	1068	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		318					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.952A>G	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677011	0.88445	.	.	ENSG00000105679	ENST00000222286	T	0.47177	0.85	5.39	5.39	0.77823	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	M	0.91300	3.195	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.80627	-0.1298	10	0.87932	D	0	-35.611	13.7058	0.62639	1.0:0.0:0.0:0.0	.	318	O14556	G3PT_HUMAN	A	318	ENSP00000222286:T318A	ENSP00000222286:T318A	T	+	1	0	GAPDHS	40726465	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.240000	0.95396	2.185000	0.69588	0.454000	0.30748	ACC		0.612	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		11	45	0	0	0	1	0	11	45				
FMO4	2329	broad.mit.edu	37	1	171303741	171303741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171303741C>A	ENST00000367749.3	+	8	1349	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	340					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTGAAGAACCTCTTAAAAGC	0.388																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1018-1020)cCt>cAt		flavin containing monooxygenase 4							86.0	91.0	90.0					1																	171303741		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303741C>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1019C>A	1.37:g.171303741C>A	ENSP00000356723:p.Pro340His						p.P340H	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			8	1349	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		340					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.1019C>A	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771614	0.49680	.	.	ENSG00000076258	ENST00000367749	T	0.53857	0.6	5.63	5.63	0.86233	.	0.310771	0.35615	N	0.003096	T	0.45135	0.1327	M	0.69523	2.12	0.38074	D	0.93647	B	0.19073	0.033	B	0.17433	0.018	T	0.45775	-0.9238	10	0.52906	T	0.07	-15.1769	19.2618	0.93971	0.0:1.0:0.0:0.0	.	340	P31512	FMO4_HUMAN	H	340	ENSP00000356723:P340H	ENSP00000356723:P340H	P	+	2	0	FMO4	169570365	0.999000	0.42202	0.998000	0.56505	0.961000	0.63080	5.784000	0.68990	2.632000	0.89209	0.650000	0.86243	CCT		0.388	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		6	97	1	0	0.000157383	1	0.00017284	6	97				
LAMA1	284217	broad.mit.edu	37	18	6993675	6993675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6993675G>A	ENST00000389658.3	-	35	5066	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1658	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AATGGCTATGGCCAGGTCTTG	0.453																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4972-4974)gCc>gTc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						199.0	178.0	185.0					18																	6993675		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6993675G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4973C>T	18.37:g.6993675G>A	ENSP00000374309:p.Ala1658Val						p.A1658V	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			35	5066	-		Colorectal(10;0.172)	1658			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4973C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534877	0.27475	.	.	ENSG00000101680	ENST00000389658	T	0.10099	2.91	5.95	2.82	0.32997	Laminin I (1);	1.047400	0.07439	N	0.897051	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.41910	-0.9482	10	0.29301	T	0.29	.	6.124	0.20170	0.121:0.4379:0.4411:0.0	.	1658	P25391	LAMA1_HUMAN	V	1658	ENSP00000374309:A1658V	ENSP00000374309:A1658V	A	-	2	0	LAMA1	6983675	0.028000	0.19301	0.003000	0.11579	0.046000	0.14306	2.154000	0.42291	0.692000	0.31613	0.655000	0.94253	GCC		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		35	68	0	0	0	1	0	35	68				
TRIO	7204	broad.mit.edu	37	5	14399169	14399169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14399169G>A	ENST00000344204.4	+	30	4628	c.4604G>A	c.(4603-4605)aGc>aAc	p.S1535N	TRIO_ENST00000537187.1_Missense_Mutation_p.S1535N|TRIO_ENST00000509967.2_Missense_Mutation_p.S1486N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1535	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTT	0.358																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4603-4605)aGc>aAc		trio Rho guanine nucleotide exchange factor							86.0	93.0	91.0					5																	14399169		2203	4299	6502	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14399169G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4604G>A	5.37:g.14399169G>A	ENSP00000339299:p.Ser1535Asn					TRIO_ENST00000509967.2_Missense_Mutation_p.S1486N|TRIO_ENST00000537187.1_Missense_Mutation_p.S1535N	p.S1535N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			30	4628	+	Lung NSC(4;0.000742)		1535			PH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4604G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259878	0.23051	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.28255	1.62;1.62;2.85	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.10760	0.04	0.51767	D	0.999937	B;B;B	0.31125	0.0;0.021;0.309	B;B;B	0.22386	0.001;0.008;0.039	T	0.09975	-1.0650	10	0.02654	T	1	.	14.9316	0.70919	0.0:0.1425:0.8575:0.0	.	1486;1535;1535	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	N	1535;1535;1486;1222	ENSP00000339299:S1535N;ENSP00000446348:S1535N;ENSP00000445592:S1486N	ENSP00000339299:S1535N	S	+	2	0	TRIO	14452169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.824000	0.62701	2.572000	0.86782	0.655000	0.94253	AGC		0.358	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		7	88	0	0	0	1	0	7	88				
RAB3A	5864	broad.mit.edu	37	19	18313466	18313466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18313466C>T	ENST00000222256.4	-	2	263	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	AC068499.10_ENST00000596473.1_RNA|RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000594805.3_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	29					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCTGTTGCCGATGATGAGA	0.567											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(85-87)Ggc>Agc		RAB3A, member RAS oncogene family							292.0	244.0	260.0					19																	18313466		2203	4300	6503	SO:0001583	missense	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313466C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.85G>A	19.37:g.18313466C>T	ENSP00000222256:p.Gly29Ser		OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.2_Intron	p.G29S	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			2	263	-			29					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.85G>A	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769585	0.90020	.	.	ENSG00000105649	ENST00000222256	D	0.98849	-5.18	4.4	3.36	0.38483	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98160	1.0446	10	0.87932	D	0	-25.8755	10.0029	0.41940	0.0:0.8983:0.0:0.1017	.	29	P20336	RAB3A_HUMAN	S	29	ENSP00000222256:G29S	ENSP00000222256:G29S	G	-	1	0	RAB3A	18174466	1.000000	0.71417	0.745000	0.31077	0.943000	0.58893	7.709000	0.84645	0.842000	0.35045	0.313000	0.20887	GGC		0.567	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		67	103	0	0	0	1	0	67	103				
PHEX	5251	broad.mit.edu	37	X	22115094	22115094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:22115094C>T	ENST00000379374.4	+	8	1436	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PHEX_ENST00000418858.3_5'Flank|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Nonsense_Mutation_p.R291*|PHEX_ENST00000535894.1_Nonsense_Mutation_p.R194*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	291					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ACATGAAAACCGAACCAGCGA	0.358																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42	GRCh37	CM971158	PHEX	M		c.(871-873)Cga>Tga		phosphate regulating endopeptidase homolog, X-linked							140.0	118.0	125.0					X																	22115094		2203	4300	6503	SO:0001587	stop_gained	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22115094C>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.871C>T	X.37:g.22115094C>T	ENSP00000368682:p.Arg291*					PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Nonsense_Mutation_p.R291*|PHEX_ENST00000535894.1_Nonsense_Mutation_p.R194*	p.R291*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			8	1436	+			291					O00678|Q13646|Q2M325|Q93032|Q99827	Nonsense_Mutation	SNP	ENST00000379374.4	37	c.871C>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	44	10.565082	0.99428	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0784	0.89435	0.0:1.0:0.0:0.0	.	.	.	.	X	291;291;194	.	ENSP00000368682:R291X	R	+	1	2	PHEX	22025015	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.015000	0.40961	2.293000	0.77203	0.436000	0.28706	CGA		0.358	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		19	45	0	0	0	1	0	19	45				
OPN4	94233	broad.mit.edu	37	10	88414583	88414583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88414583C>T	ENST00000241891.5	+	1	210	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	OPN4_ENST00000372071.2_Nonsense_Mutation_p.Q15*	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	15					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAGCCCAACCCAAGAGCCCAG	0.647																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(43-45)Caa>Taa		opsin 4							63.0	63.0	63.0					10																	88414583		2203	4300	6503	SO:0001587	stop_gained	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88414583C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.43C>T	10.37:g.88414583C>T	ENSP00000241891:p.Gln15*					OPN4_ENST00000241891.5_Nonsense_Mutation_p.Q15*	p.Q15*	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			1	270	+			15					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Nonsense_Mutation	SNP	ENST00000241891.5	37	c.43C>T	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453874	0.84209	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	.	.	.	4.8	4.8	0.61643	.	1.078640	0.07214	N	0.859706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.5521	0.61738	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000241891:Q15X	Q	+	1	0	OPN4	88404563	0.885000	0.30320	0.720000	0.30636	0.106000	0.19336	2.036000	0.41165	2.644000	0.89710	0.655000	0.94253	CAA		0.647	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		23	33	0	0	0	1	0	23	33				
TRPV3	162514	broad.mit.edu	37	17	3458120	3458120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3458120C>T	ENST00000576742.1	-	2	346	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	TRPV3_ENST00000572519.1_Missense_Mutation_p.V9M|TRPV3_ENST00000301365.4_Missense_Mutation_p.V9M	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	9					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGAGAGGCACCATCTCCTTG	0.622																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(25-27)Gtg>Atg		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						40.0	41.0	41.0					17																	3458120		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3458120C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.25G>A	17.37:g.3458120C>T	ENSP00000461518:p.Val9Met					TRPV3_ENST00000572519.1_Missense_Mutation_p.V9M|TRPV3_ENST00000576742.1_Missense_Mutation_p.V9M	p.V9M			Q8NET8	TRPV3_HUMAN			2	156	-			9					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.25G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177639	0.38413	.	.	ENSG00000167723	ENST00000381913;ENST00000301365	T	0.41758	0.99	4.79	-0.105	0.13601	.	0.531703	0.16954	N	0.192748	T	0.26304	0.0642	N	0.19112	0.55	0.23496	N	0.99755	B;B;B	0.22909	0.001;0.077;0.001	B;B;B	0.31686	0.002;0.134;0.004	T	0.25502	-1.0130	10	0.54805	T	0.06	-4.8942	6.3526	0.21385	0.0:0.503:0.0:0.497	.	9;9;9	Q8NET8-3;Q8NET8;Q8NET8-2	.;TRPV3_HUMAN;.	M	9	ENSP00000301365:V9M	ENSP00000301365:V9M	V	-	1	0	TRPV3	3404870	0.995000	0.38212	1.000000	0.80357	0.848000	0.48234	0.099000	0.15210	0.198000	0.20407	0.462000	0.41574	GTG		0.622	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		12	27	0	0	0	1	0	12	27				
PAPPA	5069	broad.mit.edu	37	9	119065179	119065179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119065179G>A	ENST00000328252.3	+	10	3466	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.D71N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1033					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCTCATCAAGACCAGCAATG	0.507																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3097-3099)Gac>Aac		pregnancy-associated plasma protein A, pappalysin 1							119.0	104.0	110.0					9																	119065179		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065179G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3097G>A	9.37:g.119065179G>A	ENSP00000330658:p.Asp1033Asn					PAPPA_ENST00000534838.1_Missense_Mutation_p.D71N|RP11-45A16.4_ENST00000451100.1_RNA	p.D1033N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			10	3466	+			1033					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3097G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666650	0.67814	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	T;T	0.38401	1.14;1.14	5.82	5.82	0.92795	.	0.352164	0.36167	N	0.002759	T	0.46328	0.1387	L	0.60455	1.87	0.42608	D	0.993308	P;P;P	0.52170	0.949;0.951;0.868	P;P;B	0.47645	0.52;0.553;0.276	T	0.34254	-0.9836	10	0.42905	T	0.14	-30.179	20.0989	0.97860	0.0:0.0:1.0:0.0	.	71;477;1033	F5GZ19;E7EMD3;Q13219	.;.;PAPP1_HUMAN	N	1033;477;71	ENSP00000330658:D1033N;ENSP00000441461:D71N	ENSP00000330658:D1033N	D	+	1	0	PAPPA	118105000	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.487000	0.60293	2.764000	0.94973	0.650000	0.86243	GAC		0.507	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		24	37	0	0	0	1	0	24	37				
SPATA2L	124044	broad.mit.edu	37	16	89763869	89763869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89763869G>A	ENST00000289805.5	-	3	1216	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	383										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGCAGGGCTGCACAGTGGGC	0.697																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(1147-1149)gCa>gTa		spermatogenesis associated 2-like							13.0	15.0	14.0					16																	89763869		2189	4280	6469	SO:0001583	missense	124044							g.chr16:89763869G>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.1148C>T	16.37:g.89763869G>A	ENSP00000289805:p.Ala383Val					SPATA2L_ENST00000335360.7_Intron	p.A383V	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	1216	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	383					D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	37	c.1148C>T	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	9.556	1.117263	0.20795	.	.	ENSG00000158792	ENST00000289805	T	0.19394	2.15	4.53	2.33	0.28932	.	1.363950	0.04971	N	0.463915	T	0.14570	0.0352	N	0.19112	0.55	0.09310	N	0.999997	B	0.22983	0.078	B	0.17098	0.017	T	0.24905	-1.0147	10	0.44086	T	0.13	.	6.1424	0.20266	0.0:0.3135:0.4324:0.2541	.	383	Q8IUW3	SPA2L_HUMAN	V	383	ENSP00000289805:A383V	ENSP00000289805:A383V	A	-	2	0	SPATA2L	88291370	0.000000	0.05858	0.025000	0.17156	0.235000	0.25334	0.294000	0.19047	0.880000	0.35969	0.655000	0.94253	GCA		0.697	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		14	16	0	0	0	1	0	14	16				
PRKCQ	5588	broad.mit.edu	37	10	6557047	6557047	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6557047G>A	ENST00000263125.5	-	2	150	c.51C>T	c.(49-51)tgC>tgT	p.C17C	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.C17C	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	17	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GACAAGACTGGCAGGACCCGC	0.512																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(49-51)tgC>tgT		protein kinase C, theta							73.0	73.0	73.0					10																	6557047		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6557047G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.51C>T	10.37:g.6557047G>A						PRKCQ_ENST00000397176.2_Silent_p.C17C|PRKCQ_ENST00000539722.1_5'UTR	p.C17C	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			2	150	-			17			C2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.51C>T	CCDS7079.1																																																																																				0.512	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		8	33	0	0	0	1	0	8	33				
C3	718	broad.mit.edu	37	19	6714050	6714050	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6714050G>T	ENST00000245907.6	-	7	818	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	242					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGATGTAGTAGAATTTCTCTG	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(724-726)ttC>ttA		complement component 3							76.0	83.0	81.0					19																	6714050		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6714050G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.726C>A	19.37:g.6714050G>T	ENSP00000245907:p.Phe242Leu						p.F242L	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	7	818	-			242					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.726C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.397884	0.83120	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	4.98	3.93	0.45458	.	0.055736	0.64402	D	0.000001	T	0.58366	0.2117	M	0.92317	3.295	0.42558	D	0.993136	D	0.61697	0.99	D	0.63488	0.915	T	0.63829	-0.6548	10	0.37606	T	0.19	.	10.3678	0.44035	0.0998:0.0:0.9002:0.0	.	242	P01024	CO3_HUMAN	L	242	ENSP00000245907:F242L	ENSP00000245907:F242L	F	-	3	2	C3	6665050	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.307000	0.51888	1.057000	0.40506	0.298000	0.19748	TTC		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		22	58	1	0	1.55469e-16	1	2.00715e-16	22	58				
MIR517A	574479	broad.mit.edu	37	19	54216613	54216613	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54216613A>G	ENST00000385001.1	+	0	87				MIR524_ENST00000385242.1_RNA|MIR519D_ENST00000385246.1_RNA	NR_030201.1				microRNA 517a																		CCATGCTGTGACCCTCCAAAG	0.433																																						ENST00000385246.1																			0																				135.0	124.0	127.0					19																	54216613		1568	3582	5150			0							g.chr19:54216613A>G			19q13.42	2011-09-12		2008-12-18	ENSG00000207734	ENSG00000207734		"""ncRNAs / Micro RNAs"""	32111	non-coding RNA	RNA, micro				MIRN517A			Standard	NR_030201		Approved	hsa-mir-517a	uc021vae.1				19.37:g.54216613A>G								NR_030202.1						0	13	+									RNA	SNP	ENST00000385001.1	37																																																																																						0.433	MIR517A-201	KNOWN	basic	miRNA	miRNA		NR_030201		32	55	0	0	0	1	0	32	55				
WDFY2	115825	broad.mit.edu	37	13	52293442	52293442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52293442G>A	ENST00000298125.5	+	5	623	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	148							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGTGGGCAGCGCCTGGGAGGT	0.527																																						ENST00000298125.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(442-444)cGc>cAc		WD repeat and FYVE domain containing 2							128.0	116.0	120.0					13																	52293442		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52293442G>A	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.443G>A	13.37:g.52293442G>A	ENSP00000298125:p.Arg148His						p.R148H	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	5	623	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	148					B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.443G>A	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130115	0.56721	.	.	ENSG00000139668	ENST00000298125	T	0.65916	-0.18	5.26	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161112	0.64402	D	0.000020	T	0.55545	0.1927	M	0.68317	2.08	0.58432	D	0.999998	P;P	0.47604	0.606;0.898	B;B	0.33568	0.13;0.166	T	0.61058	-0.7139	10	0.45353	T	0.12	-14.2976	14.2246	0.65850	0.0:0.0:0.8496:0.1504	.	45;148	Q96LK4;Q96P53	.;WDFY2_HUMAN	H	148	ENSP00000298125:R148H	ENSP00000298125:R148H	R	+	2	0	WDFY2	51191443	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.856000	0.48341	1.193000	0.43086	0.650000	0.86243	CGC		0.527	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		19	44	0	0	0	1	0	19	44				
RAB33A	9363	broad.mit.edu	37	X	129318396	129318396	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129318396C>A	ENST00000257017.4	+	2	810	c.396C>A	c.(394-396)atC>atA	p.I132I		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	132					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AAATGTGGATCCAAGAATGCA	0.507																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(394-396)atC>atA		RAB33A, member RAS oncogene family							148.0	107.0	121.0					X																	129318396		2203	4300	6503	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318396C>A	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.396C>A	X.37:g.129318396C>A							p.I132I	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	810	+			132					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.396C>A	CCDS14621.1																																																																																				0.507	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		6	65	1	0	0.00198382	1	0.00210581	6	65				
OR7E24	26648	broad.mit.edu	37	19	9362594	9362594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9362594C>A	ENST00000456448.1	+	1	989	c.875C>A	c.(874-876)gCt>gAt	p.A292D		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGTATGGTGGCTTCAGTGATG	0.517																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(874-876)gCt>gAt		olfactory receptor, family 7, subfamily E, member 24							75.0	77.0	76.0					19																	9362594		2199	4296	6495	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362594C>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.875C>A	19.37:g.9362594C>A	ENSP00000387523:p.Ala292Asp						p.A292D	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	989	+			292					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.875C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	12.27	1.887603	0.33348	.	.	ENSG00000237521	ENST00000456448	T	0.38887	1.11	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.60301	0.2258	M	0.86097	2.795	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.48703	-0.9012	9	0.87932	D	0	.	4.1891	0.10413	0.0:0.6757:0.0:0.3243	.	292	Q6IFN5	O7E24_HUMAN	D	292	ENSP00000387523:A292D	ENSP00000387523:A292D	A	+	2	0	OR7E24	9223594	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	-0.440000	0.06888	1.241000	0.43820	0.436000	0.28706	GCT		0.517	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			22	18	1	0	2.39556e-15	1	3.07139e-15	22	18				
DMRT3	58524	broad.mit.edu	37	9	990083	990083	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:990083A>G	ENST00000190165.2	+	2	535	c.497A>G	c.(496-498)aAt>aGt	p.N166S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	166					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCGGCAGACAATACAGAGGTC	0.493																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(496-498)aAt>aGt		doublesex and mab-3 related transcription factor 3							65.0	68.0	67.0					9																	990083		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990083A>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.497A>G	9.37:g.990083A>G	ENSP00000190165:p.Asn166Ser						p.N166S	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	535	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	166					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.497A>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.429889	0.00184	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.41758	0.99;1.48	5.28	1.51	0.23008	.	0.452303	0.25506	N	0.030220	T	0.33469	0.0864	M	0.66939	2.045	0.21652	N	0.999608	B	0.10296	0.003	B	0.09377	0.004	T	0.29549	-1.0008	10	0.15499	T	0.54	-9.8411	6.0801	0.19936	0.4421:0.3703:0.1875:0.0	.	166	Q9NQL9	DMRT3_HUMAN	S	166;29	ENSP00000190165:N166S;ENSP00000387472:N29S	ENSP00000190165:N166S	N	+	2	0	DMRT3	980083	0.007000	0.16637	0.090000	0.20809	0.030000	0.12068	0.302000	0.19192	0.010000	0.14839	0.455000	0.32223	AAT		0.493	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		21	35	0	0	0	1	0	21	35				
GIGYF2	26058	broad.mit.edu	37	2	233681620	233681620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681620C>T	ENST00000409547.1	+	22	2559	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	GIGYF2_ENST00000452341.2_Missense_Mutation_p.R581W|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R744W|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R771W|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R772W|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R750W|GIGYF2_ENST00000373566.3_Missense_Mutation_p.R772W	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	750	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGGGCAAAACGGGAAGAGGA	0.478																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2314-2316)Cgg>Tgg		GRB10 interacting GYF protein 2							138.0	125.0	129.0					2																	233681620		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233681620C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2248C>T	2.37:g.233681620C>T	ENSP00000386537:p.Arg750Trp					GIGYF2_ENST00000409451.3_Missense_Mutation_p.R771W|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R744W|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R772W|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R750W|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R750W|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R581W	p.R772W			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	21	2511	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	750			Gln-rich.|Glu-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2314C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787144	0.16189	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.79554	-1.1;-1.1;-1.1;-1.1;-1.28;-1.1;-1.1;-1.1;-1.09	3.89	1.91	0.25777	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	M	0.76328	2.33	0.47905	D	0.999546	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;P;P	0.76071	0.987;0.867;0.867;0.867	D	0.86991	0.2110	10	0.72032	D	0.01	-20.5611	11.7907	0.52068	0.5024:0.4976:0.0:0.0	.	581;771;750;744	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	W	772;693;750;772;750;750;693;744;771;744;581	ENSP00000362667:R772W;ENSP00000362664:R750W;ENSP00000386765:R772W;ENSP00000386537:R750W;ENSP00000404195:R693W;ENSP00000387070:R744W;ENSP00000387170:R771W;ENSP00000410297:R744W;ENSP00000411505:R581W	ENSP00000362664:R750W	R	+	1	2	GIGYF2	233389864	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	0.629000	0.24538	0.333000	0.23563	-0.397000	0.06425	CGG		0.478	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		20	49	0	0	0	1	0	20	49				
RABGGTA	5875	broad.mit.edu	37	14	24737353	24737353	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24737353G>T	ENST00000399409.3	-	11	1593	c.1110C>A	c.(1108-1110)tcC>tcA	p.S370S	RABGGTA_ENST00000216840.6_Silent_p.S370S|RABGGTA_ENST00000560777.1_De_novo_Start_OutOfFrame|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	370					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCCTTACAGGATTCCAGCT	0.592																																						ENST00000560777.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12								Rab geranylgeranyltransferase, alpha subunit							61.0	62.0	61.0					14																	24737353		1928	4141	6069	SO:0001819	synonymous_variant	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737353G>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1110C>A	14.37:g.24737353G>T						RABGGTA_ENST00000399409.3_Silent_p.S370S|RABGGTA_ENST00000216840.6_Silent_p.S370S				Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	0	555	-								A8K5N2|D3DS69	Translation_Start_Site	SNP	ENST00000399409.3	37		CCDS45088.1																																																																																				0.592	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		9	48	1	0	1.76689e-08	1	2.11513e-08	9	48				
MUC2	4583	broad.mit.edu	37	11	1077647	1077647	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1077647G>T	ENST00000441003.2	+	3	424	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	MUC2_ENST00000359061.5_Missense_Mutation_p.A133S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	133	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAAGAGCGATGCCTACACCAA	0.672																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(397-399)Gcc>Tcc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						36.0	42.0	40.0					11																	1077647		1961	4136	6097	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1077647G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.397G>T	11.37:g.1077647G>T	ENSP00000415183:p.Ala133Ser					MUC2_ENST00000359061.5_Missense_Mutation_p.A133S	p.A133S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	424	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	133			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.397G>T		.	.	.	.	.	.	.	.	.	.	G	8.796	0.931633	0.18131	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.59224	0.28;0.28	3.52	2.57	0.30868	.	0.747082	0.10892	N	0.622550	T	0.43809	0.1264	L	0.29908	0.895	0.09310	N	1	B	0.22541	0.071	B	0.34346	0.18	T	0.39623	-0.9605	10	0.10111	T	0.7	.	7.0825	0.25239	0.2612:0.0:0.7388:0.0	.	133	E7EUV1	.	S	133	ENSP00000415183:A133S;ENSP00000351956:A133S	ENSP00000351956:A133S	A	+	1	0	MUC2	1067647	0.000000	0.05858	0.126000	0.21872	0.164000	0.22412	0.253000	0.18296	1.784000	0.52394	0.407000	0.27541	GCC		0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	3	1	0	5.18039e-06	1	5.91835e-06	7	3				
ZC3H10	84872	broad.mit.edu	37	12	56515435	56515435	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56515435G>A	ENST00000257940.2	+	3	1365	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	363	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAGATCACGCCACTGTCAG	0.627																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(1087-1089)acG>acA		zinc finger CCCH-type containing 10							104.0	86.0	92.0					12																	56515435		2203	4300	6503	SO:0001819	synonymous_variant	84872						nucleic acid binding|zinc ion binding	g.chr12:56515435G>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1089G>A	12.37:g.56515435G>A						RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.T363T	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1365	+			363			Pro-rich.			Silent	SNP	ENST00000257940.2	37	c.1089G>A	CCDS8903.1																																																																																				0.627	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		11	20	0	0	0	1	0	11	20				
DNAH1	25981	broad.mit.edu	37	3	52398885	52398885	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398885G>A	ENST00000420323.2	+	34	5629	c.5368G>A	c.(5368-5370)Gtg>Atg	p.V1790M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1790					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATGTGAACGTGCCCAAGTT	0.632																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5368-5370)Gtg>Atg		dynein, axonemal, heavy chain 1							80.0	83.0	82.0					3																	52398885		2155	4267	6422	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398885G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5368G>A	3.37:g.52398885G>A	ENSP00000401514:p.Val1790Met						p.V1790M	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5629	+			1790					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.5368G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405766	0.42715	.	.	ENSG00000114841	ENST00000420323	T	0.44881	0.91	4.49	4.49	0.54785	.	0.195015	0.25810	N	0.028154	T	0.42877	0.1222	L	0.52759	1.655	0.44221	D	0.997059	D	0.55172	0.97	P	0.46629	0.522	T	0.43196	-0.9406	10	0.54805	T	0.06	.	12.7494	0.57300	0.0829:0.0:0.9171:0.0	.	1790	C9JXH6	.	M	1790	ENSP00000401514:V1790M	ENSP00000401514:V1790M	V	+	1	0	DNAH1	52373925	1.000000	0.71417	0.935000	0.37517	0.170000	0.22686	4.719000	0.61937	2.068000	0.61886	0.467000	0.42956	GTG		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		12	27	0	0	0	1	0	12	27				
PCDHA2	56146	broad.mit.edu	37	5	140176534	140176534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140176534C>T	ENST00000526136.1	+	1	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T662M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T662M|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACAGCCACGGCCACCGTG	0.662																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1984-1986)aCg>aTg									72.0	72.0	72.0					5																	140176534		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176534C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1985C>T	5.37:g.140176534C>T	ENSP00000431748:p.Thr662Met					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T662M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T662M	p.T662M	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1985	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1985C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.068626	0.36470	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.57107	0.42;0.42;0.42	4.05	3.16	0.36331	Cadherin (4);Cadherin-like (1);	0.171581	0.27109	N	0.020897	T	0.73938	0.3651	H	0.94925	3.6	0.29012	N	0.886798	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.62955	0.903;0.909;0.903	T	0.70510	-0.4852	10	0.87932	D	0	.	7.1241	0.25461	0.1716:0.7405:0.0:0.0878	.	662;662;662	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	662	ENSP00000430584:T662M;ENSP00000367372:T662M;ENSP00000431748:T662M	ENSP00000367372:T662M	T	+	2	0	PCDHA2	140156718	0.906000	0.30813	0.937000	0.37676	0.174000	0.22865	5.742000	0.68646	0.801000	0.34066	0.644000	0.83932	ACG		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		4	74	0	0	0	1	0	4	74				
RGS7	6000	broad.mit.edu	37	1	240979635	240979635	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240979635T>A	ENST00000407727.1	-	10	764	c.765A>T	c.(763-765)gaA>gaT	p.E255D	RGS7_ENST00000366565.1_Missense_Mutation_p.E255D|RGS7_ENST00000348120.2_Missense_Mutation_p.E202D|RGS7_ENST00000401882.1_Missense_Mutation_p.E202D|RGS7_ENST00000366563.1_Missense_Mutation_p.E255D|RGS7_ENST00000366564.1_Missense_Mutation_p.E255D|RGS7_ENST00000366562.4_Missense_Mutation_p.E255D|RGS7_ENST00000331110.7_Missense_Mutation_p.E229D|RGS7_ENST00000446183.2_Missense_Mutation_p.E171D			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	255	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTAACTCATCTTCTGTTGGAG	0.363																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(763-765)gaA>gaT		regulator of G-protein signaling 7							276.0	248.0	258.0					1																	240979635		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240979635T>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.765A>T	1.37:g.240979635T>A	ENSP00000384428:p.Glu255Asp					RGS7_ENST00000407727.1_Missense_Mutation_p.E255D|RGS7_ENST00000446183.2_Missense_Mutation_p.E171D|RGS7_ENST00000366562.4_Missense_Mutation_p.E255D|RGS7_ENST00000348120.2_Missense_Mutation_p.E202D|RGS7_ENST00000331110.7_Missense_Mutation_p.E229D|RGS7_ENST00000366563.1_Missense_Mutation_p.E255D|RGS7_ENST00000401882.1_Missense_Mutation_p.E202D|RGS7_ENST00000366564.1_Missense_Mutation_p.E255D	p.E255D	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		11	1146	-		all_cancers(173;0.0131)	255			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.765A>T		.	.	.	.	.	.	.	.	.	.	T	12.71	2.020229	0.35606	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	6.07	3.76	0.43208	G-protein gamma domain (3);	0.050576	0.85682	D	0.000000	T	0.15825	0.0381	N	0.14661	0.345	0.47153	D	0.999333	B;P;P;B;P;B;P	0.40681	0.244;0.542;0.68;0.122;0.486;0.003;0.727	B;P;B;B;B;B;P	0.48089	0.216;0.566;0.431;0.098;0.431;0.001;0.566	T	0.08126	-1.0737	10	0.12430	T	0.62	-20.8448	9.8656	0.41140	0.0:0.1378:0.0:0.8622	.	171;229;202;255;255;255;255	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	D	229;255;255;255;86;202;171;255;255;202	ENSP00000331485:E229D;ENSP00000355523:E255D;ENSP00000355522:E255D;ENSP00000355521:E255D;ENSP00000404399:E86D;ENSP00000341242:E202D;ENSP00000390138:E171D;ENSP00000355520:E255D;ENSP00000384428:E255D;ENSP00000385508:E202D	ENSP00000331485:E229D	E	-	3	2	RGS7	239046258	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.581000	0.46077	0.533000	0.28675	0.533000	0.62120	GAA		0.363	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		64	109	0	0	0	1	0	64	109				
CFD	1675	broad.mit.edu	37	19	860969	860969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:860969G>T	ENST00000327726.6	+	3	558	c.321G>T	c.(319-321)caG>caT	p.Q107H	CFD_ENST00000592860.1_Missense_Mutation_p.Q114H	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	107	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACAGCCAGCCCGACACCA	0.711																																						ENST00000327726.6																			0											c.(319-321)caG>caT		complement factor D (adipsin)							22.0	20.0	21.0					19																	860969		2188	4277	6465	SO:0001583	missense	1675				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity	g.chr19:860969G>T	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"""Complement system"""	2771	protein-coding gene	gene with protein product		134350	"""D component of complement (adipsin)"", ""properdin factor D"""	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.321G>T	19.37:g.860969G>T	ENSP00000332139:p.Gln107His					CFD_ENST00000592860.1_Missense_Mutation_p.Q114H	p.Q107H	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	558	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	107			Peptidase S1.		B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Missense_Mutation	SNP	ENST00000327726.6	37	c.321G>T	CCDS12046.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140195	0.37825	.	.	ENSG00000197766	ENST00000327726	D	0.88818	-2.43	3.66	-7.32	0.01436	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.660370	0.11636	U	0.544311	T	0.72946	0.3524	N	0.17838	0.53	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58831	-0.7567	10	0.62326	D	0.03	.	2.9398	0.05826	0.0992:0.3321:0.3485:0.2202	.	114;107	A6XNE2;P00746	.;CFAD_HUMAN	H	107	ENSP00000332139:Q107H	ENSP00000332139:Q107H	Q	+	3	2	CFD	811969	0.000000	0.05858	0.011000	0.14972	0.784000	0.44337	0.243000	0.18106	-0.650000	0.05423	0.407000	0.27541	CAG		0.711	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		6	15	1	0	5.18039e-06	1	5.91835e-06	6	15				
SLC4A4	8671	broad.mit.edu	37	4	72338541	72338541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338541A>G	ENST00000264485.5	+	14	1874	c.1757A>G	c.(1756-1758)gAg>gGg	p.E586G	SLC4A4_ENST00000340595.3_Missense_Mutation_p.E542G|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E542G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E586G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E586G	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	586					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTCACGGAGGAGGGCTTTTCC	0.448																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1624-1626)gAg>gGg		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							173.0	167.0	169.0					4																	72338541		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338541A>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1757A>G	4.37:g.72338541A>G	ENSP00000264485:p.Glu586Gly					SLC4A4_ENST00000425175.1_Missense_Mutation_p.E586G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E586G|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E542G|SLC4A4_ENST00000264485.5_Missense_Mutation_p.E586G|SLC4A4_ENST00000514331.1_3'UTR	p.E542G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1821	+			586					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1625A>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623027	0.87460	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.44	5.44	0.79542	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	H	0.96301	3.8	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0	D	0.96435	0.9322	10	0.87932	D	0	.	15.509	0.75766	1.0:0.0:0.0:0.0	.	586;586;542;542;566;586	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	G	586;586;586;542;542	ENSP00000264485:E586G;ENSP00000393557:E586G;ENSP00000307349:E586G;ENSP00000422400:E542G;ENSP00000344272:E542G	ENSP00000264485:E586G	E	+	2	0	SLC4A4	72557405	1.000000	0.71417	0.997000	0.53966	0.724000	0.41520	9.339000	0.96797	2.065000	0.61736	0.533000	0.62120	GAG		0.448	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		52	97	0	0	0	1	0	52	97				
PJA2	9867	broad.mit.edu	37	5	108719214	108719214	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108719214G>T	ENST00000361189.2	-	0	160				PJA2_ENST00000361557.3_De_novo_Start_OutOfFrame|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase						long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		acaagccgcagaagattccta	0.338																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21								praja ring finger 2, E3 ubiquitin protein ligase							51.0	45.0	47.0					5																	108719214		692	1591	2283			9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108719214G>T	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.-80C>A	5.37:g.108719214G>T						PJA2_ENST00000361557.3_De_novo_Start_OutOfFrame|PJA2_ENST00000511624.1_5'UTR		NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	0	160	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)						A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Translation_Start_Site	SNP	ENST00000361189.2	37		CCDS4099.1																																																																																				0.338	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		5	62	1	0	3.59834e-05	1	4.01776e-05	5	62				
CES4A	283848	broad.mit.edu	37	16	67029675	67029675	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67029675C>A	ENST00000326686.5	+	2	203	c.203C>A	c.(202-204)cCt>cAt	p.P68H	CES4A_ENST00000398354.1_Missense_Mutation_p.P68H|CES4A_ENST00000540947.2_Missense_Mutation_p.P68H|CES4A_ENST00000338718.4_Missense_Mutation_p.P91H|CES4A_ENST00000541479.1_Missense_Mutation_p.P91H			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	68						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGGTTTGCACCTCCAGAACCC	0.567																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(202-204)cCt>cAt		carboxylesterase 4A							91.0	93.0	92.0					16																	67029675		1870	4113	5983	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67029675C>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.203C>A	16.37:g.67029675C>A	ENSP00000314145:p.Pro68His					CES4A_ENST00000541479.1_Missense_Mutation_p.P91H|CES4A_ENST00000338718.4_Missense_Mutation_p.P91H|CES4A_ENST00000326686.5_Missense_Mutation_p.P68H|CES4A_ENST00000398354.1_Missense_Mutation_p.P68H	p.P68H	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			2	387	+			68					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.203C>A		.	.	.	.	.	.	.	.	.	.	C	15.61	2.885114	0.51908	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000543913;ENST00000398354;ENST00000326686;ENST00000538199	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	4.93	3.98	0.46160	Carboxylesterase, type B (1);	.	.	.	.	T	0.78855	0.4349	M	0.65498	2.005	0.09310	N	1	D;D;D	0.76494	0.996;0.994;0.999	P;D;D	0.76071	0.855;0.987;0.967	T	0.68002	-0.5524	9	0.87932	D	0	.	11.2551	0.49050	0.0:0.9107:0.0:0.0893	.	91;68;91	F8WEE9;Q5XG92;F5H5S4	.;EST4A_HUMAN;.	H	68;91;91;68;68;68;31	ENSP00000444052:P68H;ENSP00000443175:P91H;ENSP00000340714:P91H;ENSP00000381397:P68H;ENSP00000314145:P68H;ENSP00000441103:P31H	ENSP00000314145:P68H	P	+	2	0	CES4A	65587176	0.033000	0.19621	0.007000	0.13788	0.003000	0.03518	2.969000	0.49232	1.290000	0.44636	0.655000	0.94253	CCT		0.567	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		26	72	1	0	2.48779e-11	1	3.09936e-11	26	72				
TMEM132D	121256	broad.mit.edu	37	12	130184368	130184368	+	Missense_Mutation	SNP	G	G	A	rs370621503		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130184368G>A	ENST00000422113.2	-	2	1281	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	319					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AACGTGAAGCGATCTTCAGTG	0.483																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(955-957)Cgc>Tgc		transmembrane protein 132D		G	CYS/ARG	0,4406		0,0,2203	112.0	100.0	104.0		955	4.6	0.0	12		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132D	NM_133448.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	319/1100	130184368	1,13005	2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184368G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.955C>T	12.37:g.130184368G>A	ENSP00000408581:p.Arg319Cys						p.R319C	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1281	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	319					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.955C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689710	0.29962	0.0	1.16E-4	ENSG00000151952	ENST00000422113	T	0.14640	2.49	5.47	4.57	0.56435	.	1.178150	0.05998	N	0.647161	T	0.25938	0.0632	L	0.48642	1.525	0.09310	N	1	D	0.65815	0.995	P	0.50708	0.648	T	0.41998	-0.9477	9	.	.	.	-3.2786	15.8366	0.78801	0.0:0.1475:0.8525:0.0	.	319	Q14C87	T132D_HUMAN	C	319	ENSP00000408581:R319C	.	R	-	1	0	TMEM132D	128750321	0.069000	0.21087	0.003000	0.11579	0.039000	0.13416	2.489000	0.45285	1.255000	0.44051	0.650000	0.86243	CGC		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		14	24	0	0	0	1	0	14	24				
AKAP5	9495	broad.mit.edu	37	14	64936301	64936301	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64936301T>C	ENST00000394718.4	+	2	1567	c.1189T>C	c.(1189-1191)Tct>Cct	p.S397P	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.S397P	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	397	PKA-RII subunit binding domain.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TGAAACAGCCTCTTCTCTAGT	0.338																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(1189-1191)Tct>Cct		A kinase (PRKA) anchor protein 5							93.0	102.0	99.0					14																	64936301		2202	4299	6501	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936301T>C	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1189T>C	14.37:g.64936301T>C	ENSP00000378207:p.Ser397Pro					AKAP5_ENST00000394718.3_Missense_Mutation_p.S397P|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	p.S397P			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	2477	+			397			PKA-RII subunit binding domain.		A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.1189T>C	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232080	0.58777	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.38077	1.16;1.16	5.51	3.05	0.35203	.	0.000000	0.53938	D	0.000055	T	0.41026	0.1141	L	0.29908	0.895	0.25248	N	0.989694	D	0.63880	0.993	P	0.58721	0.844	T	0.28235	-1.0050	10	0.87932	D	0	-9.83	11.8272	0.52273	0.0:0.0:0.4293:0.5706	.	397	P24588	AKAP5_HUMAN	P	397	ENSP00000378207:S397P;ENSP00000315615:S397P	ENSP00000315615:S397P	S	+	1	0	AKAP5	64006054	0.891000	0.30450	0.642000	0.29436	0.948000	0.59901	1.149000	0.31626	0.424000	0.26061	0.482000	0.46254	TCT		0.338	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			11	153	0	0	0	1	0	11	153				
GNAI2	2771	broad.mit.edu	37	3	50293708	50293708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50293708G>A	ENST00000313601.6	+	5	933	c.549G>A	c.(547-549)acG>acA	p.T183T	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000266027.5_Silent_p.T167T|GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000536647.1_Silent_p.T102T|GNAI2_ENST00000422163.1_Silent_p.T167T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	183					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAAAGACCACGGGGATCGTGG	0.592																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(547-549)acG>acA		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							126.0	98.0	107.0					3																	50293708		2203	4300	6503	SO:0001819	synonymous_variant	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50293708G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.549G>A	3.37:g.50293708G>A						GNAI2_ENST00000422163.1_Silent_p.T167T|GNAI2_ENST00000266027.5_Silent_p.T167T|GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Silent_p.T102T	p.T183T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	5	933	+			183					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	c.549G>A	CCDS2813.1																																																																																				0.592	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		14	28	0	0	0	1	0	14	28				
DNAH1	25981	broad.mit.edu	37	3	52398868	52398868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398868C>T	ENST00000420323.2	+	34	5612	c.5351C>T	c.(5350-5352)gCc>gTc	p.A1784V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1784					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCTCCGGGCCATCCGTGAT	0.632																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5350-5352)gCc>gTc		dynein, axonemal, heavy chain 1							67.0	71.0	70.0					3																	52398868		2152	4265	6417	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398868C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5351C>T	3.37:g.52398868C>T	ENSP00000401514:p.Ala1784Val						p.A1784V	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5612	+			1784					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.5351C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610921	0.87258	.	.	ENSG00000114841	ENST00000420323	T	0.33216	1.42	4.49	4.49	0.54785	.	0.000000	0.45606	D	0.000348	T	0.59689	0.2212	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66244	-0.5972	10	0.52906	T	0.07	.	17.2058	0.86917	0.0:1.0:0.0:0.0	.	1784	C9JXH6	.	V	1784	ENSP00000401514:A1784V	ENSP00000401514:A1784V	A	+	2	0	DNAH1	52373908	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.778000	0.85637	2.068000	0.61886	0.467000	0.42956	GCC		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	24	0	0	0	1	0	11	24				
IL23R	149233	broad.mit.edu	37	1	67724231	67724231	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724231T>A	ENST00000347310.5	+	11	1481	c.1310T>A	c.(1309-1311)aTa>aAa	p.I437K	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.I182K	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	437					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTACAGAGATAAAAGAAATC	0.388																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1309-1311)aTa>aAa		interleukin 23 receptor							105.0	119.0	114.0					1																	67724231		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724231T>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1310T>A	1.37:g.67724231T>A	ENSP00000321345:p.Ile437Lys					IL23R_ENST00000395227.1_Missense_Mutation_p.I182K|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	p.I437K	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1481	+			437					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1310T>A	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.52|18.52	3.641277|3.641277	0.67244|0.67244	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.43688|.	0.94;1.03|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.077474|.	0.53938|.	D|.	0.000044|.	T|.	0.62048|.	0.2396|.	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D;D|.	0.77004|.	0.984;0.952;0.984;0.984;0.984;0.989;0.961|.	T|.	0.63585|.	-0.6604|.	10|.	0.87932|.	D|.	0|.	-15.8276|-15.8276	13.0325|13.0325	0.58851|0.58851	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	183;261;72;195;35;182;437|.	Q5VWK5-2;B6HY71;Q5VWK5-5;E9PHX4;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;IL23R_HUMAN|.	K|K	437;266;195;182|199	ENSP00000321345:I437K;ENSP00000378652:I182K|.	ENSP00000321345:I437K|.	I|X	+|+	2|1	0|0	IL23R|IL23R	67496819|67496819	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.311000|0.311000	0.27955|0.27955	4.463000|4.463000	0.60128|0.60128	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATA|TAA		0.388	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		5	136	0	0	0	1	0	5	136				
GTPBP10	85865	broad.mit.edu	37	7	90006903	90006903	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90006903A>G	ENST00000222511.6	+	7	740	c.674A>G	c.(673-675)gAa>gGa	p.E225G	GTPBP10_ENST00000257659.8_Missense_Mutation_p.E146G	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	225	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AAGCATATAGAAAGAACTAGA	0.299																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(673-675)gAa>gGa		GTP-binding protein 10 (putative)							84.0	86.0	85.0					7																	90006903		2203	4295	6498	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:90006903A>G		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.674A>G	7.37:g.90006903A>G	ENSP00000222511:p.Glu225Gly					GTPBP10_ENST00000257659.8_Missense_Mutation_p.E146G	p.E225G	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			7	740	+			225					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.674A>G	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.911241	0.92178	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.19669	2.13;2.13;2.13	5.89	5.89	0.94794	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.090088	0.85682	D	0.000000	T	0.60599	0.2281	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73678	-0.3907	9	.	.	.	-34.2977	16.2915	0.82755	1.0:0.0:0.0:0.0	.	146;225	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	G	146;225;152	ENSP00000257659:E146G;ENSP00000222511:E225G;ENSP00000416596:E152G	.	E	+	2	0	GTPBP10	89844839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.789000	0.91839	2.248000	0.74166	0.528000	0.53228	GAA		0.299	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		4	133	0	0	0	1	0	4	133				
TLL1	7092	broad.mit.edu	37	4	166964527	166964527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964527G>T	ENST00000061240.2	+	12	2127	c.1480G>T	c.(1480-1482)Gtg>Ttg	p.V494L	TLL1_ENST00000507499.1_Missense_Mutation_p.V494L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	494	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAAAATAACAGTGTCTGAGAG	0.433																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1480-1482)Gtg>Ttg		tolloid-like 1							183.0	166.0	172.0					4																	166964527		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166964527G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1480G>T	4.37:g.166964527G>T	ENSP00000061240:p.Val494Leu					TLL1_ENST00000507499.1_Missense_Mutation_p.V494L	p.V494L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	12	2127	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	494			CUB 2.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1480G>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347796	0.61183	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.38077	1.16;1.92	5.56	5.56	0.83823	CUB (5);	0.074354	0.53938	U	0.000055	T	0.56062	0.1960	M	0.86268	2.805	0.80722	D	1	B;P	0.35600	0.37;0.511	P;P	0.44597	0.454;0.454	T	0.58763	-0.7579	10	0.49607	T	0.09	.	19.5424	0.95280	0.0:0.0:1.0:0.0	.	494;494	E9PD25;O43897	.;TLL1_HUMAN	L	494	ENSP00000061240:V494L;ENSP00000426082:V494L	ENSP00000061240:V494L	V	+	1	0	TLL1	167183977	1.000000	0.71417	0.851000	0.33527	0.004000	0.04260	9.706000	0.98722	2.631000	0.89168	0.551000	0.68910	GTG		0.433	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			10	133	1	0	9.70103e-10	1	1.18443e-09	10	133				
ADAMTSL2	9719	broad.mit.edu	37	9	136401795	136401795	+	5'UTR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136401795C>T	ENST00000354484.4	+	0	518				ADAMTSL2_ENST00000393061.3_Silent_p.I96I|ADAMTSL2_ENST00000393060.1_5'UTR	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGAAGAGGATCGGAGCTGGCC	0.592																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(286-288)atC>atT		ADAMTS-like 2							195.0	154.0	168.0					9																	136401795		2203	4300	6503	SO:0001623	5_prime_UTR_variant	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136401795C>T	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.-40C>T	9.37:g.136401795C>T						ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR	p.I96I			Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	2	720	+			503			TSP type-1 1.		B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	c.288C>T	CCDS6976.1																																																																																				0.592	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		22	42	0	0	0	1	0	22	42				
CEMIP	57214	broad.mit.edu	37	15	81212433	81212433	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81212433A>G	ENST00000394685.3	+	15	2216		c.e15-1		RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Splice_Site|KIAA1199_ENST00000220244.3_Splice_Site			Q8WUJ3	CEMIP_HUMAN							hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGACCCCTGCAGATCAAGGAC	0.483																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.e15-1		KIAA1199							128.0	100.0	109.0					15																	81212433		2203	4300	6503	SO:0001630	splice_region_variant	57214							g.chr15:81212433A>G																												ENST00000394685.3:c.1798-1A>G	15.37:g.81212433A>G						RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Splice_Site|KIAA1199_ENST00000356249.5_Splice_Site				Q8WUJ3	K1199_HUMAN			15	2216	+								Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Splice_Site	SNP	ENST00000394685.3	37		CCDS10315.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.597061	0.46318	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.74	0.69445	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1199	78999488	1.000000	0.71417	0.905000	0.35620	0.312000	0.27988	8.619000	0.90938	2.060000	0.61445	0.477000	0.44152	.		0.483	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		Intron	14	28	0	0	0	1	0	14	28				
PFKFB3	5209	broad.mit.edu	37	10	6259132	6259132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6259132C>T	ENST00000379775.4	+	6	806	c.476C>T	c.(475-477)aCa>aTa	p.T159I	PFKFB3_ENST00000379782.3_Missense_Mutation_p.T159I|PFKFB3_ENST00000536985.1_Missense_Mutation_p.T139I|PFKFB3_ENST00000379785.1_Missense_Mutation_p.T159I|PFKFB3_ENST00000360521.2_Missense_Mutation_p.T159I|PFKFB3_ENST00000317350.4_Missense_Mutation_p.T159I|PFKFB3_ENST00000379789.4_Missense_Mutation_p.T139I|PFKFB3_ENST00000540253.1_Missense_Mutation_p.T173I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	159	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACGACCCTACAGTTGTGGCC	0.557																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(475-477)aCa>aTa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							141.0	127.0	131.0					10																	6259132		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6259132C>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.476C>T	10.37:g.6259132C>T	ENSP00000369100:p.Thr159Ile					PFKFB3_ENST00000317350.4_Missense_Mutation_p.T159I|PFKFB3_ENST00000379785.1_Missense_Mutation_p.T159I|PFKFB3_ENST00000360521.2_Missense_Mutation_p.T159I|PFKFB3_ENST00000379789.4_Missense_Mutation_p.T139I|PFKFB3_ENST00000540253.1_Missense_Mutation_p.T173I|PFKFB3_ENST00000379782.3_Missense_Mutation_p.T159I|PFKFB3_ENST00000536985.1_Missense_Mutation_p.T139I	p.T159I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			6	806	+			159			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.476C>T	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	C	7.927	0.739739	0.15642	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.91	4.01	0.46588	6-phosphofructo-2-kinase (1);	0.450069	0.28268	N	0.015962	T	0.25121	0.0610	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.34226	0.443;0.17;0.027;0.131	B;B;B;B	0.34301	0.179;0.043;0.037;0.053	T	0.17715	-1.0360	9	0.66056	D	0.02	-24.2351	6.842	0.23967	0.1376:0.6714:0.1189:0.0721	.	173;159;159;139	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	I	139;139;173;159;159;159;159;159;159	.	ENSP00000369105:T159I	T	+	2	0	PFKFB3	6299138	0.001000	0.12720	0.009000	0.14445	0.045000	0.14185	0.745000	0.26259	0.781000	0.33589	0.655000	0.94253	ACA		0.557	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			29	44	0	0	0	1	0	29	44				
DENND2C	163259	broad.mit.edu	37	1	115151396	115151396	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115151396G>T	ENST00000393274.1	-	10	2093	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	DENND2C_ENST00000393277.1_Missense_Mutation_p.L490M|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.L433M	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	490					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTCAAACAGCTGCTGCTCC	0.463																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1468-1470)Ctg>Atg		DENN/MADD domain containing 2C							146.0	138.0	140.0					1																	115151396		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115151396G>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1468C>A	1.37:g.115151396G>T	ENSP00000376955:p.Leu490Met					DENND2C_ENST00000393276.3_Missense_Mutation_p.L433M|DENND2C_ENST00000393277.1_Missense_Mutation_p.L490M|DENND2C_ENST00000481894.1_5'UTR	p.L490M	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2093	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	490					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1468C>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736092	0.69189	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.21031	3.24;2.72;2.03	5.3	1.29	0.21616	uDENN (2);	0.066317	0.64402	D	0.000009	T	0.31949	0.0813	M	0.79475	2.455	0.47374	D	0.999403	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.20174	-1.0283	10	0.87932	D	0	.	10.4265	0.44380	0.2693:0.0:0.7307:0.0	.	490;433	Q68D51;Q68D51-3	DEN2C_HUMAN;.	M	433;490;490;490	ENSP00000376957:L433M;ENSP00000376955:L490M;ENSP00000376958:L490M	ENSP00000358553:L490M	L	-	1	2	DENND2C	114952919	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	3.587000	0.53957	0.252000	0.21531	-0.191000	0.12829	CTG		0.463	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		38	42	1	0	9.8876e-21	1	1.29918e-20	38	42				
SLC26A7	115111	broad.mit.edu	37	8	92261894	92261894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92261894G>T	ENST00000276609.3	+	2	254	c.15G>T	c.(13-15)aaG>aaT	p.K5N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.K5N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.K5N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGGAGCAAAGAGGAAAAAGA	0.413																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(13-15)aaG>aaT		solute carrier family 26 (anion exchanger), member 7							87.0	80.0	82.0					8																	92261894		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92261894G>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.15G>T	8.37:g.92261894G>T	ENSP00000276609:p.Lys5Asn					SLC26A7_ENST00000523719.1_Missense_Mutation_p.K5N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.K5N	p.K5N	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		2	254	+			5						Missense_Mutation	SNP	ENST00000276609.3	37	c.15G>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364766	0.41902	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.92911	-2.86;-3.12;-3.12;-3.13	5.34	4.33	0.51752	.	0.153866	0.45126	D	0.000398	D	0.88171	0.6365	L	0.32530	0.975	0.30480	N	0.772485	P;P	0.40731	0.728;0.608	P;B	0.44359	0.447;0.193	D	0.85396	0.1128	10	0.46703	T	0.11	.	8.9226	0.35621	0.2044:0.0:0.7956:0.0	.	5;5	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	N	5	ENSP00000428881:K5N;ENSP00000428849:K5N;ENSP00000276609:K5N;ENSP00000309504:K5N	ENSP00000276609:K5N	K	+	3	2	SLC26A7	92331070	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.233000	0.32648	1.001000	0.39076	0.557000	0.71058	AAG		0.413	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			5	34	1	0	8.12818e-05	1	8.99451e-05	5	34				
LAMB2	3913	broad.mit.edu	37	3	49159017	49159017	+	Silent	SNP	G	G	A	rs151292828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49159017G>A	ENST00000418109.1	-	32	5273	c.5109C>T	c.(5107-5109)cgC>cgT	p.R1703R	USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000305544.4_Silent_p.R1703R|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1703	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGAGGACCGCGTAGCAGCT	0.607																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(5107-5109)cgC>cgT		laminin, beta 2 (laminin S)		C		0,4406		0,0,2203	43.0	43.0	43.0		5109	3.7	1.0	3	dbSNP_134	43	2,8598		0,2,4298	no	coding-synonymous	LAMB2	NM_002292.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1703/1799	49159017	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159017G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.5109C>T	3.37:g.49159017G>A						LAMB2_ENST00000305544.4_Silent_p.R1703R	p.R1703R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	32	5273	-			1703			Domain I.		Q16321	Silent	SNP	ENST00000418109.1	37	c.5109C>T	CCDS2789.1																																																																																				0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		4	30	0	0	0	1	0	4	30				
ZNF354B	117608	broad.mit.edu	37	5	178310634	178310634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310634G>T	ENST00000322434.3	+	5	1407	c.1181G>T	c.(1180-1182)aGt>aTt	p.S394I	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAGCCAGAGTGCCTCTCTT	0.408																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1180-1182)aGt>aTt		zinc finger protein 354B							36.0	40.0	39.0					5																	178310634		2172	4258	6430	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310634G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1181G>T	5.37:g.178310634G>T	ENSP00000327143:p.Ser394Ile						p.S394I	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1407	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	394					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1181G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866568	0.17250	.	.	ENSG00000178338	ENST00000322434	T	0.31247	1.5	3.38	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40522	0.1120	M	0.74389	2.26	0.21355	N	0.999713	D	0.60575	0.988	P	0.52343	0.696	T	0.20438	-1.0275	9	0.30854	T	0.27	-9.5273	6.4001	0.21634	0.1348:0.0:0.8652:0.0	.	394	Q96LW1	Z354B_HUMAN	I	394	ENSP00000327143:S394I	ENSP00000327143:S394I	S	+	2	0	ZNF354B	178243240	0.000000	0.05858	1.000000	0.80357	0.959000	0.62525	-0.102000	0.10956	1.718000	0.51419	0.455000	0.32223	AGT		0.408	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		27	37	1	0	6.70999e-13	1	8.46507e-13	27	37				
GIMAP4	55303	broad.mit.edu	37	7	150270110	150270110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150270110G>A	ENST00000255945.2	+	3	1127	c.952G>A	c.(952-954)Gct>Act	p.A318T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A332T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	318						cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTACAGATTGCTTCCTTTAT	0.408																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(952-954)Gct>Act		GTPase, IMAP family member 4							119.0	103.0	108.0					7																	150270110		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150270110G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.952G>A	7.37:g.150270110G>A	ENSP00000255945:p.Ala318Thr					GIMAP4_ENST00000461940.1_Missense_Mutation_p.A332T	p.A318T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1127	+			318						Missense_Mutation	SNP	ENST00000255945.2	37	c.952G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694676	0.30052	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.06294	3.36;3.32	4.56	1.79	0.24919	.	2.512190	0.01462	N	0.015924	T	0.09291	0.0229	L	0.58101	1.795	0.09310	N	1	B;B	0.32203	0.244;0.36	B;B	0.27796	0.057;0.083	T	0.33085	-0.9882	10	0.59425	D	0.04	.	6.2419	0.20795	0.3137:0.0:0.6863:0.0	.	332;318	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	T	318;332;250	ENSP00000255945:A318T;ENSP00000419545:A332T	ENSP00000255945:A318T	A	+	1	0	GIMAP4	149901043	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.509000	0.22707	0.199000	0.20427	0.655000	0.94253	GCT		0.408	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		31	65	0	0	0	1	0	31	65				
TENM4	26011	broad.mit.edu	37	11	78387401	78387401	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78387401G>A	ENST00000278550.7	-	30	5754	c.5292C>T	c.(5290-5292)gcC>gcT	p.A1764A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1764					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGGAGCCATCGGCCCCGATGT	0.627																																						ENST00000278550.7																			0											c.(5290-5292)gcC>gcT		teneurin transmembrane protein 4							30.0	35.0	33.0					11																	78387401		2134	4246	6380	SO:0001819	synonymous_variant	26011							g.chr11:78387401G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5292C>T	11.37:g.78387401G>A							p.A1764A	NM_001098816.2	NP_001092286.2					30	5754	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.5292C>T	CCDS44688.1																																																																																				0.627	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			6	12	0	0	0	1	0	6	12				
EIF4E2	9470	broad.mit.edu	37	2	233422710	233422710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233422710G>T	ENST00000258416.3	+	3	925	c.252G>T	c.(250-252)caG>caT	p.Q84H	EIF4E2_ENST00000409495.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409098.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409514.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409394.1_Intron	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	84					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATATCAAACAGATTGGCACCT	0.463																																						ENST00000409514.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(250-252)caG>caT		eukaryotic translation initiation factor 4E family member 2							89.0	85.0	86.0					2																	233422710		2203	4300	6503	SO:0001583	missense	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233422710G>T	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.252G>T	2.37:g.233422710G>T	ENSP00000258416:p.Gln84His					EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409098.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409495.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000258416.3_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409394.1_Intron	p.Q84H			O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	3	294	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	84					B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	c.252G>T	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268573	0.23136	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000454501	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.37	5.37	0.77165	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.52905	1.665	0.80722	D	1	B;B;B	0.14012	0.005;0.001;0.009	B;B;B	0.13407	0.006;0.006;0.009	T	0.13202	-1.0518	10	0.15066	T	0.55	-55.2058	16.5983	0.84802	0.0:0.0:1.0:0.0	.	84;84;84	B8ZZJ9;O60573;B8ZZ50	.;IF4E2_HUMAN;.	H	84;84;84;84;79	ENSP00000258416:Q84H;ENSP00000387336:Q84H;ENSP00000386996:Q84H;ENSP00000386876:Q84H;ENSP00000390904:Q79H	ENSP00000258416:Q84H	Q	+	3	2	EIF4E2	233130954	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.418000	0.52721	2.523000	0.85059	0.655000	0.94253	CAG		0.463	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846		4	60	1	0	0.00024832	1	0.0002712	4	60				
C8B	732	broad.mit.edu	37	1	57425741	57425741	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57425741C>T	ENST00000371237.4	-	2	267	c.201G>A	c.(199-201)ctG>ctA	p.L67L	C8B_ENST00000543257.1_Silent_p.L15L|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	67	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCAACTAGACAGCTCACAAT	0.517																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(43-45)ctG>ctA		complement component 8, beta polypeptide							153.0	125.0	135.0					1																	57425741		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57425741C>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.201G>A	1.37:g.57425741C>T						C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Silent_p.L67L	p.L15L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			3	611	-			67					A1L4K7	Silent	SNP	ENST00000371237.4	37	c.45G>A	CCDS30730.1																																																																																				0.517	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			8	57	0	0	0	1	0	8	57				
LTBP1	4052	broad.mit.edu	37	2	33468843	33468843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33468843G>T	ENST00000404816.2	+	10	2344	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	LTBP1_ENST00000407925.1_Missense_Mutation_p.S338I|LTBP1_ENST00000418533.2_Missense_Mutation_p.S338I|LTBP1_ENST00000404525.1_Missense_Mutation_p.S338I|LTBP1_ENST00000354476.3_Missense_Mutation_p.S664I|LTBP1_ENST00000390003.4_Missense_Mutation_p.S338I|LTBP1_ENST00000402934.1_Missense_Mutation_p.S338I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	664					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTTTCAAGTTGTGTTCGT	0.408																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(1990-1992)aGt>aTt		latent transforming growth factor beta binding protein 1							159.0	145.0	150.0					2																	33468843		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33468843G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1991G>T	2.37:g.33468843G>T	ENSP00000386043:p.Ser664Ile					LTBP1_ENST00000402934.1_Missense_Mutation_p.S338I|LTBP1_ENST00000404525.1_Missense_Mutation_p.S338I|LTBP1_ENST00000354476.3_Missense_Mutation_p.S664I|LTBP1_ENST00000390003.4_Missense_Mutation_p.S338I|LTBP1_ENST00000407925.1_Missense_Mutation_p.S338I|LTBP1_ENST00000418533.2_Missense_Mutation_p.S338I	p.S664I			Q14766	LTBP1_HUMAN			10	2344	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	664					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1991G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777013	0.49786	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303	D;D;D;D;D;D;D;T	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;1.72	5.88	2.88	0.33553	EGF-like region, conserved site (1);EGF-like calcium-binding (2);	.	.	.	.	D	0.90823	0.7118	L	0.60957	1.885	0.80722	D	1	B;B;B;B;B;B	0.32968	0.298;0.392;0.116;0.035;0.225;0.253	B;B;B;B;B;B	0.39771	0.309;0.305;0.252;0.093;0.203;0.206	D	0.88227	0.2901	9	0.41790	T	0.15	.	12.7693	0.57410	0.0655:0.319:0.6156:0.0	.	664;338;338;338;338;664	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	I	664;664;338;338;338;338;338;20	ENSP00000386043:S664I;ENSP00000346467:S664I;ENSP00000374653:S338I;ENSP00000393057:S338I;ENSP00000384373:S338I;ENSP00000385359:S338I;ENSP00000384091:S338I;ENSP00000415412:S20I	ENSP00000346467:S664I	S	+	2	0	LTBP1	33322347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.313000	0.43735	0.808000	0.34231	0.561000	0.74099	AGT		0.408	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		7	77	1	0	0.00198382	1	0.00210581	7	77				
SCFD2	152579	broad.mit.edu	37	4	54011572	54011572	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54011572T>G	ENST00000401642.3	-	5	1622	c.1489A>C	c.(1489-1491)Aaa>Caa	p.K497Q	SCFD2_ENST00000388940.4_Missense_Mutation_p.K497Q	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	497					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCTTGACTTTTTCTTCTGCT	0.443																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1489-1491)Aaa>Caa		sec1 family domain containing 2							148.0	131.0	137.0					4																	54011572		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54011572T>G	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1489A>C	4.37:g.54011572T>G	ENSP00000384182:p.Lys497Gln					SCFD2_ENST00000388940.4_Missense_Mutation_p.K497Q	p.K497Q	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1622	-			497					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1489A>C	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	T	2.593	-0.294843	0.05568	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.79845	-1.07;-1.31	4.81	3.59	0.41128	.	0.306100	0.29253	N	0.012683	T	0.68467	0.3004	L	0.36672	1.1	0.25083	N	0.990917	B;B	0.10296	0.003;0.003	B;B	0.16722	0.009;0.016	T	0.55036	-0.8203	10	0.30854	T	0.27	.	6.5438	0.22394	0.0:0.0897:0.4806:0.4297	.	497;497	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	Q	497	ENSP00000384182:K497Q;ENSP00000373592:K497Q	ENSP00000373592:K497Q	K	-	1	0	SCFD2	53706329	0.994000	0.37717	0.932000	0.37286	0.124000	0.20399	1.324000	0.33712	0.932000	0.37266	0.460000	0.39030	AAA		0.443	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		44	58	0	0	0	1	0	44	58				
ABCC5	10057	broad.mit.edu	37	3	183660584	183660584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183660584C>T	ENST00000334444.6	-	25	3865	c.3625G>A	c.(3625-3627)Gtc>Atc	p.V1209I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V1166I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1209	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTCTTTAGGACGAGAGGGAGG	0.502																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3625-3627)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							96.0	92.0	94.0					3																	183660584		1931	4123	6054	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183660584C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3625G>A	3.37:g.183660584C>T	ENSP00000333926:p.Val1209Ile					ABCC5_ENST00000265586.6_Missense_Mutation_p.V1166I	p.V1209I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		25	3865	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1209			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3625G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673484	0.67928	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.91068	-2.78;-2.78	6.17	6.17	0.99709	ABC transporter-like (1);	0.058944	0.64402	D	0.000002	D	0.86594	0.5970	N	0.26130	0.795	0.49389	D	0.999789	P;P	0.50528	0.936;0.487	B;B	0.40602	0.334;0.291	D	0.87355	0.2340	10	0.56958	D	0.05	-38.2859	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1166;1209	Q86UX3;O15440	.;MRP5_HUMAN	I	1209;1166	ENSP00000333926:V1209I;ENSP00000265586:V1166I	ENSP00000265586:V1166I	V	-	1	0	ABCC5	185143278	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.030000	0.70903	2.941000	0.99782	0.655000	0.94253	GTC		0.502	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		23	39	0	0	0	1	0	23	39				
LSS	4047	broad.mit.edu	37	21	47626623	47626623	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47626623C>T	ENST00000397728.3	-	16	1605	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	LSS_ENST00000356396.4_Silent_p.G509G|LSS_ENST00000457828.2_Silent_p.G429G|LSS_ENST00000522411.1_Silent_p.G498G	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	509					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCAGCAAGTGCCCCCCACGCT	0.597																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(1525-1527)ggG>ggA		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							81.0	73.0	76.0					21																	47626623		2203	4300	6503	SO:0001819	synonymous_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47626623C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1527G>A	21.37:g.47626623C>T						LSS_ENST00000356396.4_Silent_p.G509G|LSS_ENST00000522411.1_Silent_p.G498G|LSS_ENST00000457828.2_Silent_p.G429G	p.G509G	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			16	1605	-	Breast(49;0.214)		509					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	c.1527G>A	CCDS13733.1																																																																																				0.597	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			20	32	0	0	0	1	0	20	32				
FN3KRP	79672	broad.mit.edu	37	17	80685007	80685007	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80685007G>T	ENST00000269373.6	+	6	963	c.890G>T	c.(889-891)aGa>aTa	p.R297I	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_Missense_Mutation_p.R247I	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	297							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCGGGGTACAGAGGATCCTCC	0.517																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(889-891)aGa>aTa		fructosamine 3 kinase related protein							92.0	95.0	94.0					17																	80685007		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80685007G>T	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.890G>T	17.37:g.80685007G>T	ENSP00000269373:p.Arg297Ile					FN3KRP_ENST00000535965.1_Missense_Mutation_p.R247I	p.R297I	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	963	+	Breast(20;0.000523)|all_neural(118;0.0952)		297					Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.890G>T	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367791	0.42003	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.50813	0.73;0.73	5.82	4.85	0.62838	.	0.039786	0.85682	D	0.000000	T	0.66934	0.2840	M	0.80028	2.48	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.66646	-0.5871	10	0.21540	T	0.41	-21.033	14.4298	0.67240	0.0715:0.0:0.9285:0.0	.	297	Q9HA64	KT3K_HUMAN	I	297;247	ENSP00000269373:R297I;ENSP00000444994:R247I	ENSP00000269373:R297I	R	+	2	0	FN3KRP	78278296	1.000000	0.71417	0.032000	0.17829	0.723000	0.41478	5.577000	0.67444	1.461000	0.47929	0.655000	0.94253	AGA		0.517	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		4	99	1	0	0.014758	1	0.0152625	4	99				
DACT1	51339	broad.mit.edu	37	14	59112882	59112882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112882G>A	ENST00000335867.4	+	4	1565	c.1541G>A	c.(1540-1542)aGc>aAc	p.S514N	DACT1_ENST00000541264.2_Missense_Mutation_p.S233N|DACT1_ENST00000395153.3_Missense_Mutation_p.S477N|DACT1_ENST00000556859.1_Missense_Mutation_p.S233N			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	514					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGAAAAACAGCCTGCAGGGC	0.592																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1429-1431)aGc>aAc		dishevelled-binding antagonist of beta-catenin 1							57.0	72.0	67.0					14																	59112882		2199	4300	6499	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112882G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1541G>A	14.37:g.59112882G>A	ENSP00000337439:p.Ser514Asn					DACT1_ENST00000556859.1_Missense_Mutation_p.S233N|DACT1_ENST00000395151.3_Missense_Mutation_p.S233N|DACT1_ENST00000335867.4_Missense_Mutation_p.S514N|DACT1_ENST00000541264.2_Missense_Mutation_p.S233N	p.S477N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1577	+			514					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1430G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112733	0.37242	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.62105	0.78;0.78;0.06;0.05;0.78	4.84	4.84	0.62591	.	0.366934	0.29624	N	0.011633	T	0.58680	0.2139	L	0.36672	1.1	0.39387	D	0.966352	P;B	0.39782	0.688;0.119	P;B	0.44394	0.448;0.132	T	0.65088	-0.6253	10	0.62326	D	0.03	-10.3493	13.6537	0.62325	0.0:0.1552:0.8448:0.0	.	477;514	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	N	233;233;477;514;233	ENSP00000451598:S233N;ENSP00000378581:S233N;ENSP00000378582:S477N;ENSP00000337439:S514N;ENSP00000442850:S233N	ENSP00000337439:S514N	S	+	2	0	DACT1	58182635	0.854000	0.29725	0.657000	0.29651	0.558000	0.35554	3.571000	0.53841	2.241000	0.73720	0.563000	0.77884	AGC		0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		10	124	0	0	0	1	0	10	124				
NDST1	3340	broad.mit.edu	37	5	149901306	149901306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149901306G>A	ENST00000261797.6	+	2	992	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	NDST1_ENST00000523767.1_Missense_Mutation_p.V164M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	164	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTACGGCGTGGGCATCAT	0.542																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(490-492)Gtg>Atg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							89.0	90.0	90.0					5																	149901306		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149901306G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.490G>A	5.37:g.149901306G>A	ENSP00000261797:p.Val164Met					NDST1_ENST00000523767.1_Missense_Mutation_p.V164M	p.V164M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	992	+		all_hematologic(541;0.224)	164			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.490G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949559	0.92660	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.58210	0.35;0.69	4.96	4.96	0.65561	.	0.185114	0.46145	D	0.000313	T	0.77883	0.4197	M	0.91612	3.225	0.80722	D	1	D;D;D	0.64830	0.994;0.984;0.994	D;P;D	0.65010	0.931;0.704;0.931	T	0.82653	-0.0351	9	.	.	.	.	18.7747	0.91907	0.0:0.0:1.0:0.0	.	164;164;164	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	M	164	ENSP00000428604:V164M;ENSP00000261797:V164M	.	V	+	1	0	NDST1	149881499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.539000	0.98076	2.733000	0.93635	0.655000	0.94253	GTG		0.542	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		9	120	0	0	0	1	0	9	120				
SPOCD1	90853	broad.mit.edu	37	1	32259438	32259438	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32259438T>C	ENST00000360482.2	-	12	2573	c.2444A>G	c.(2443-2445)aAt>aGt	p.N815S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.N308S|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.N815S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	815					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGAAGATATTGTCCCCGCA	0.572																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2443-2445)aAt>aGt		SPOC domain containing 1							169.0	172.0	171.0					1																	32259438		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32259438T>C	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2444A>G	1.37:g.32259438T>C	ENSP00000353670:p.Asn815Ser					SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.N815S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.N308S	p.N815S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	12	2573	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	815					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2444A>G	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.264|2.264	-0.368610|-0.368610	0.05069|0.05069	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000528579|ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	.|T;T;T;T	.|0.42513	.|0.99;2.0;0.97;1.99	4.88|4.88	-5.98|-5.98	0.02220|0.02220	.|.	.|.	.|.	.|.	.|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.13594	.|0.008;0.002;0.004	.|B;B;B	.|0.14023	.|0.01;0.003;0.004	T|T	0.36407|0.36407	-0.9749|-0.9749	5|9	.|0.14656	.|T	.|0.56	2.3104|2.3104	10.5258|10.5258	0.44948|0.44948	0.0:0.6516:0.1414:0.207|0.0:0.6516:0.1414:0.207	.|.	.|815;251;815	.|Q6ZMY3-2;E9PPM7;Q6ZMY3	.|.;.;SPOC1_HUMAN	V|S	189|308;815;212;251;815;158	.|ENSP00000257100:N308S;ENSP00000353670:N815S;ENSP00000399778:N251S;ENSP00000435851:N815S	.|ENSP00000257100:N308S	I|N	-|-	1|2	0|0	SPOCD1|SPOCD1	32032025|32032025	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.071000|0.071000	0.16799|0.16799	-1.155000|-1.155000	0.03163|0.03163	-0.990000|-0.990000	0.03481|0.03481	-0.467000|-0.467000	0.05162|0.05162	ATA|AAT		0.572	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		75	111	0	0	0	1	0	75	111				
RAD54L	8438	broad.mit.edu	37	1	46740290	46740290	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46740290G>A	ENST00000371975.4	+	16	2444	c.1770G>A	c.(1768-1770)atG>atA	p.M590I	RAD54L_ENST00000442598.1_Missense_Mutation_p.M590I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	590	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGCTGGTCATGTTTGACCCTG	0.537								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1768-1770)atG>atA	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							76.0	78.0	77.0					1																	46740290		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46740290G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1770G>A	1.37:g.46740290G>A	ENSP00000361043:p.Met590Ile					RAD54L_ENST00000442598.1_Missense_Mutation_p.M590I|RAD54L_ENST00000488942.1_3'UTR	p.M590I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	16	2444	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	590			Helicase C-terminal.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1770G>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	34	5.346814	0.95807	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.73152	-0.72;-0.72	5.19	5.19	0.71726	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	N	0.05534	-0.03	0.80722	D	1	B;D	0.61080	0.334;0.989	B;D	0.68353	0.142;0.957	T	0.72839	-0.4171	10	0.31617	T	0.26	-19.2102	18.7771	0.91915	0.0:0.0:1.0:0.0	.	410;590	G3V1N0;Q92698	.;RAD54_HUMAN	I	590;590;410	ENSP00000396113:M590I;ENSP00000361043:M590I	ENSP00000361043:M590I	M	+	3	0	RAD54L	46512877	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.503000	0.97984	2.449000	0.82847	0.545000	0.68477	ATG		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		30	37	0	0	0	1	0	30	37				
CSMD3	114788	broad.mit.edu	37	8	114327022	114327022	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:114327022C>A	ENST00000297405.5	-	2	423	c.179G>T	c.(178-180)gGa>gTa	p.G60V	CSMD3_ENST00000455883.2_Splice_Site_p.G60V|CSMD3_ENST00000352409.3_Splice_Site_p.G60V|CSMD3_ENST00000343508.3_Splice_Site_p.G20V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e2-1		CUB and Sushi multiple domains 3							66.0	69.0	68.0					8																	114327022		2202	4300	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:114327022C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.179-1G>T	8.37:g.114327022C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.G60_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G20_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G60_splice	p.G60_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			2	423	-			60					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.178_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530351	0.64860	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.26223	2.16;2.11;1.75;2.13	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000028	T	0.40297	0.1111	L	0.57130	1.785	0.58432	D	0.999996	B;B;D;B;B	0.65815	0.012;0.291;0.995;0.007;0.0	B;B;P;B;B	0.56474	0.03;0.096;0.799;0.013;0.0	T	0.03184	-1.1063	10	0.34782	T	0.22	.	14.0833	0.64939	0.1504:0.8496:0.0:0.0	.	60;60;60;60;20	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	V	20;60;60;60	ENSP00000345799:G20V;ENSP00000297405:G60V;ENSP00000412263:G60V;ENSP00000343124:G60V	ENSP00000297405:G60V	G	-	2	0	CSMD3	114396198	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.954000	0.63631	2.777000	0.95525	0.557000	0.71058	GGA		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	25	54	1	0	1.64293e-13	1	2.0847e-13	25	54				
CATSPER2P1	440278	broad.mit.edu	37	15	44028445	44028445	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44028445G>T	ENST00000381680.2	-	0	1339				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		CAGATCCTCAGAAGCTGAAGC	0.493																																						ENST00000381680.2																			0																																																			0							g.chr15:44028445G>T	BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028445G>T								NR_002318.2						0	1339	-									RNA	SNP	ENST00000381680.2	37																																																																																						0.493	CATSPER2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000133242.1	NR_002318		35	44	1	0	4.14194e-30	1	5.54707e-30	35	44				
SELO	83642	broad.mit.edu	37	22	50649116	50649116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50649116G>T	ENST00000380903.2	+	5	1185	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		376													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TACGCGTACAGCAAGCAGCCC	0.682											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380903.2																			0											c.(1126-1128)aGc>aTc									46.0	56.0	52.0					22																	50649116		2135	4227	6362	SO:0001583	missense	0							g.chr22:50649116G>T																												ENST00000380903.2:c.1127G>T	22.37:g.50649116G>T	ENSP00000370288:p.Ser376Ile		OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	RP3-402G11.5_ENST00000492092.1_3'UTR	p.S376I	NM_031454.1	NP_113642.1					5	1185	+								Q2TAL2|Q5JZ81|Q8WUI0	Missense_Mutation	SNP	ENST00000380903.2	37	c.1127G>T	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916794	0.33815	.	.	ENSG00000073169	ENST00000380903	T	0.44482	0.92	5.82	3.48	0.39840	.	0.277812	0.43416	D	0.000561	T	0.31389	0.0795	L	0.39633	1.23	0.34257	D	0.679437	B;B	0.25563	0.129;0.036	B;B	0.28553	0.091;0.029	T	0.37174	-0.9717	10	0.33141	T	0.24	.	7.4048	0.26985	0.4124:0.0:0.5876:0.0	.	376;219	Q9BVL4;Q6ICA4	SELO_HUMAN;.	I	376	ENSP00000370288:S376I	ENSP00000370288:S376I	S	+	2	0	RP3-402G11.5	48991243	1.000000	0.71417	0.998000	0.56505	0.444000	0.32077	2.764000	0.47613	1.215000	0.43411	0.561000	0.74099	AGC		0.682	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2			4	56	1	0	0.0215528	1	0.0221649	4	56				
MUC2	4583	broad.mit.edu	37	11	1082672	1082672	+	Missense_Mutation	SNP	G	G	A	rs369313234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1082672G>A	ENST00000441003.2	+	15	1948	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	MUC2_ENST00000359061.5_Missense_Mutation_p.A641T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	641					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCCTGCACCGCCAAGGGCGT	0.642																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1921-1923)Gcc>Acc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	G	THR/ALA	0,4182		0,0,2091	32.0	38.0	36.0		1921	0.1	0.1	11		36	1,8415		0,1,4207	no	missense	MUC2	NM_002457.2	58	0,1,6298	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	641/2813	1082672	1,12597	2091	4208	6299	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1082672G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1921G>A	11.37:g.1082672G>A	ENSP00000415183:p.Ala641Thr					MUC2_ENST00000359061.5_Missense_Mutation_p.A641T	p.A641T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	15	1948	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	641					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1921G>A		.	.	.	.	.	.	.	.	.	.	g	9.713	1.157493	0.21454	0.0	1.19E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.76839	-1.05;-1.05	4.3	0.0675	0.14366	.	0.839442	0.10173	N	0.706880	T	0.80470	0.4629	M	0.64997	1.995	0.20074	N	0.999937	D	0.60160	0.987	P	0.58820	0.846	T	0.66642	-0.5872	10	0.33141	T	0.24	.	6.1696	0.20410	0.1463:0.0:0.4697:0.384	.	641	E7EUV1	.	T	641	ENSP00000415183:A641T;ENSP00000351956:A641T	ENSP00000351956:A641T	A	+	1	0	MUC2	1072672	0.338000	0.24775	0.087000	0.20705	0.009000	0.06853	0.605000	0.24179	-0.059000	0.13154	-0.322000	0.08575	GCC		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	17	0	0	0	1	0	7	17				
SLAIN1	122060	broad.mit.edu	37	13	78327371	78327371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78327371G>A	ENST00000466548.1	+	6	1252	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	SLAIN1_ENST00000488699.1_Missense_Mutation_p.R267Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R190Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R32Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R190Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	409										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTAGCCCGGATGCCAAGT	0.413																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1225-1227)cGg>cAg		SLAIN motif family, member 1							83.0	79.0	80.0					13																	78327371		2203	4300	6503	SO:0001583	missense	122060							g.chr13:78327371G>A	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1226G>A	13.37:g.78327371G>A	ENSP00000419730:p.Arg409Gln					SLAIN1_ENST00000351546.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R32Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R190Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R190Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R267Q	p.R409Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	6	1252	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	409					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37	c.1226G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.075494	0.94000	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000442759;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000314070;ENST00000474663;ENST00000358679	.	.	.	5.55	5.55	0.83447	.	0.116095	0.64402	D	0.000012	D	0.82848	0.5126	M	0.79258	2.445	0.52501	D	0.999951	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.75484	0.975;0.986;0.973;0.986	D	0.83462	0.0054	9	0.54805	T	0.06	-20.2577	19.5053	0.95113	0.0:0.0:1.0:0.0	.	145;267;32;409	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	Q	409;409;190;190;267;190;146;146;32;146;146	.	ENSP00000267219:R190Q	R	+	2	0	SLAIN1	77225372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.641000	0.91032	2.616000	0.88540	0.585000	0.79938	CGG		0.413	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		15	33	0	0	0	1	0	15	33				
TRAFD1	10906	broad.mit.edu	37	12	112572608	112572608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112572608G>A	ENST00000257604.5	+	3	731	c.114G>A	c.(112-114)atG>atA	p.M38I	TRAFD1_ENST00000412615.2_Missense_Mutation_p.M38I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	38					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ACATTGGTATGTGTCCTACCT	0.408																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(112-114)atG>atA		TRAF-type zinc finger domain containing 1							179.0	165.0	170.0					12																	112572608		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112572608G>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.114G>A	12.37:g.112572608G>A	ENSP00000257604:p.Met38Ile					TRAFD1_ENST00000412615.2_Missense_Mutation_p.M38I	p.M38I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			3	731	+			38					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.114G>A	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020412	0.35606	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.37	2.32	0.28847	Zinc finger, C2H2-like (1);	0.800837	0.12073	N	0.502081	T	0.13030	0.0316	N	0.05441	-0.05	0.25392	N	0.988517	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.26087	-1.0113	10	0.32370	T	0.25	-1.5831	9.6756	0.40039	0.0787:0.3634:0.5579:0.0	.	38;38	F8VNX8;O14545	.;TRAD1_HUMAN	I	38	ENSP00000396526:M38I;ENSP00000449319:M38I;ENSP00000257604:M38I;ENSP00000450357:M38I	ENSP00000257604:M38I	M	+	3	0	TRAFD1	111056991	0.996000	0.38824	0.999000	0.59377	0.973000	0.67179	0.231000	0.17872	0.621000	0.30232	0.555000	0.69702	ATG		0.408	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		10	124	0	0	0	1	0	10	124				
P4HB	5034	broad.mit.edu	37	17	79803050	79803050	+	Silent	SNP	G	G	A	rs201834939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79803050G>A	ENST00000331483.4	-	10	1638	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Silent_p.S428S|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'Flank	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	472	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCTGGCCACCGCTCTCCAGGA	0.607																																					Colon(49;444 983 1296 7887 42561)	ENST00000331483.4																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(1414-1416)agC>agT		prolyl 4-hydroxylase, beta polypeptide							107.0	94.0	99.0					17																	79803050		2203	4299	6502	SO:0001819	synonymous_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79803050G>A	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1416C>T	17.37:g.79803050G>A						P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.S428S	p.S472S	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		10	1638	-	all_neural(118;0.0878)|Ovarian(332;0.12)		472			Thioredoxin 2.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.1416C>T	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331652	0.24167	.	.	ENSG00000185624	ENST00000415593	.	.	.	5.16	-8.0	0.01126	.	.	.	.	.	T	0.62356	0.2421	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68265	-0.5454	4	.	.	.	.	15.9173	0.79531	0.6514:0.0:0.3486:0.0	.	.	.	.	W	238	.	.	R	-	1	2	P4HB	77396339	0.000000	0.05858	0.780000	0.31762	0.991000	0.79684	-1.682000	0.01935	-1.381000	0.02112	-0.423000	0.05987	CGG		0.607	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		8	10	0	0	0	1	0	8	10				
POU5F2	134187	broad.mit.edu	37	5	93076630	93076630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076630G>A	ENST00000510627.4	-	1	713	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	214					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCTTGCCCGTCTCCACTTC	0.542																																						ENST00000510627.4																			0											c.(640-642)Cgg>Tgg		POU domain class 5, transcription factor 2							115.0	110.0	112.0					5																	93076630		2050	4226	6276	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076630G>A		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.640C>T	5.37:g.93076630G>A	ENSP00000464890:p.Arg214Trp					FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	p.R214W	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	713	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	214					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.640C>T	CCDS59489.1																																																																																				0.542	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		23	40	0	0	0	1	0	23	40				
USP29	57663	broad.mit.edu	37	19	57641354	57641354	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641354T>A	ENST00000254181.4	+	4	1765	c.1311T>A	c.(1309-1311)atT>atA	p.I437I	USP29_ENST00000598197.1_Silent_p.I437I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	437	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCCTTATTTGTAAAGCTT	0.398																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1309-1311)atT>atA		ubiquitin specific peptidase 29							160.0	150.0	154.0					19																	57641354		2203	4300	6503	SO:0001819	synonymous_variant	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641354T>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1311T>A	19.37:g.57641354T>A						USP29_ENST00000598197.1_Silent_p.I437I	p.I437I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1765	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	437						Silent	SNP	ENST00000254181.4	37	c.1311T>A	CCDS33124.1																																																																																				0.398	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			16	132	0	0	0	1	0	16	132				
PCDH15	65217	broad.mit.edu	37	10	55582700	55582700	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55582700C>A	ENST00000320301.6	-	33	5180	c.4786G>T	c.(4786-4788)Gat>Tat	p.D1596Y	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1598Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1596					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D1596Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTGCAGATCTATGATCTCT	0.468										HNSCC(58;0.16)																												ENST00000361849.3																			1	Substitution - Missense(1)	p.D1596Y(1)	lung(1)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4792-4794)Gat>Tat		protocadherin-related 15							136.0	129.0	131.0					10																	55582700		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582700C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4786G>T	10.37:g.55582700C>A	ENSP00000322604:p.Asp1596Tyr	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1596Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron	p.D1598Y	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5186	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1596					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4792G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933634	0.52866	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.68479	-0.21;-0.24;-0.17;-0.25;-0.26;-0.33	5.33	3.49	0.39957	.	.	.	.	.	T	0.73305	0.3570	L	0.46157	1.445	0.49130	D	0.999757	P;D;D;D;D;D;P;D	0.71674	0.949;0.998;0.998;0.998;0.987;0.998;0.949;0.998	P;D;D;D;P;D;P;D	0.64687	0.836;0.928;0.928;0.928;0.896;0.928;0.836;0.928	T	0.74124	-0.3766	9	0.87932	D	0	.	11.7029	0.51581	0.0:0.8539:0.0:0.1461	.	1573;1596;1598;1603;1527;1556;1593;1596	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	Y	1556;1598;1573;1596;1593;1603;1527	ENSP00000378820:D1556Y;ENSP00000354950:D1598Y;ENSP00000378821:D1573Y;ENSP00000322604:D1596Y;ENSP00000378818:D1593Y;ENSP00000412628:D1527Y	ENSP00000322604:D1596Y	D	-	1	0	PCDH15	55252706	1.000000	0.71417	0.348000	0.25681	0.738000	0.42128	2.493000	0.45320	0.630000	0.30394	-0.143000	0.13931	GAT		0.468	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	114	1	0	0.0215528	1	0.0221649	6	114				
MED13L	23389	broad.mit.edu	37	12	116403926	116403926	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116403926C>T	ENST00000281928.3	-	29	6554	c.6348G>A	c.(6346-6348)tcG>tcA	p.S2116S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2116						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGGACACGATGACCAAA	0.453																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(6346-6348)tcG>tcA		mediator complex subunit 13-like							136.0	142.0	140.0					12																	116403926		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116403926C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6348G>A	12.37:g.116403926C>T							p.S2116S	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	29	6554	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		2116					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.6348G>A	CCDS9177.1																																																																																				0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			50	94	0	0	0	1	0	50	94				
SCN10A	6336	broad.mit.edu	37	3	38763774	38763774	+	Missense_Mutation	SNP	A	A	G	rs200713724		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38763774A>G	ENST00000449082.2	-	19	3481	c.3482T>C	c.(3481-3483)aTg>aCg	p.M1161T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1161					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAGCAGGATCATGAAGATGAT	0.547																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3481-3483)aTg>aCg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	A	THR/MET	0,4406		0,0,2203	135.0	111.0	119.0		3482	4.3	1.0	3		119	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SCN10A	NM_006514.2	81	0,3,6500	GG,GA,AA		0.0349,0.0,0.0231	possibly-damaging	1161/1957	38763774	3,13003	2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38763774A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3482T>C	3.37:g.38763774A>G	ENSP00000390600:p.Met1161Thr						p.M1161T	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	19	3481	-			1161					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3482T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903444	0.72754	0.0	3.49E-4	ENSG00000185313	ENST00000449082	D	0.90069	-2.61	4.27	4.27	0.50696	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.87682	2.9	0.53688	D	0.999977	D	0.71674	0.998	D	0.79784	0.993	D	0.95399	0.8488	10	0.87932	D	0	.	13.5717	0.61851	1.0:0.0:0.0:0.0	.	1161	Q9Y5Y9	SCNAA_HUMAN	T	1161	ENSP00000390600:M1161T	ENSP00000390600:M1161T	M	-	2	0	SCN10A	38738778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.803000	0.52742	0.459000	0.35465	ATG		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		5	52	0	0	0	1	0	5	52				
SLC26A8	116369	broad.mit.edu	37	6	35987396	35987396	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35987396T>C	ENST00000490799.1	-	2	442	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	SLC26A8_ENST00000394602.2_Missense_Mutation_p.Y30C|SLC26A8_ENST00000355574.2_Missense_Mutation_p.Y30C	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTCCTCATTGTATACTTCACG	0.493																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(88-90)tAc>tGc		solute carrier family 26 (anion exchanger), member 8							242.0	179.0	201.0					6																	35987396		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35987396T>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.89A>G	6.37:g.35987396T>C	ENSP00000417638:p.Tyr30Cys					SLC26A8_ENST00000355574.2_Missense_Mutation_p.Y30C|SLC26A8_ENST00000394602.2_Missense_Mutation_p.Y30C	p.Y30C	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			2	442	-			30						Missense_Mutation	SNP	ENST00000490799.1	37	c.89A>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.074001	0.55646	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.79	4.79	0.61399	.	0.000000	0.45361	D	0.000363	T	0.23249	0.0562	L	0.34521	1.04	0.38614	D	0.950962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	T	0.03000	-1.1084	10	0.72032	D	0.01	.	10.8857	0.46965	0.0:0.0:0.0:1.0	.	30;30	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	C	30;30;30;116	ENSP00000417638:Y30C;ENSP00000378100:Y30C;ENSP00000347778:Y30C;ENSP00000420488:Y116C	ENSP00000347778:Y30C	Y	-	2	0	SLC26A8	36095374	1.000000	0.71417	0.999000	0.59377	0.724000	0.41520	3.370000	0.52372	2.136000	0.66102	0.528000	0.53228	TAC		0.493	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			6	20	0	0	0	1	0	6	20				
KHDC3L	154288	broad.mit.edu	37	6	74073391	74073391	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74073391C>T	ENST00000370367.3	+	3	515	c.462C>T	c.(460-462)gcC>gcT	p.A154A		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	154							RNA binding (GO:0003723)										TCCGGGAGGCCGGGACCCAGC	0.677																																						ENST00000370367.3																			0											c.(460-462)gcC>gcT		KH domain containing 3-like, subcortical maternal complex member							30.0	36.0	34.0					6																	74073391		2203	4300	6503	SO:0001819	synonymous_variant	154288							g.chr6:74073391C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.462C>T	6.37:g.74073391C>T							p.A154A	NM_001017361.2	NP_001017361.1					3	515	+								B2RNW7	Silent	SNP	ENST00000370367.3	37	c.462C>T	CCDS34484.1																																																																																				0.677	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		13	19	0	0	0	1	0	13	19				
RNF112	7732	broad.mit.edu	37	17	19316255	19316255	+	Missense_Mutation	SNP	C	C	T	rs182102288	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19316255C>T	ENST00000461366.1	+	4	601	c.386C>T	c.(385-387)aCg>aTg	p.T129M	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	129						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCCCAGGAGACGTGTCCTGTG	0.617													C|||	8	0.00159744	0.0	0.0	5008	,	,		15071	0.0069		0.0	False		,,,				2504	0.001					ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(385-387)aCg>aTg		ring finger protein 112							13.0	16.0	15.0					17																	19316255		1996	4171	6167	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316255C>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.386C>T	17.37:g.19316255C>T	ENSP00000454919:p.Thr129Met					RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	p.T129M	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			4	601	+			129					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.386C>T	CCDS58529.1																																																																																				0.617	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		3	6	0	0	0	1	0	3	6				
DAB1	1600	broad.mit.edu	37	1	57480853	57480853	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57480853G>T	ENST00000371231.1	-	13	1280	c.1246C>A	c.(1246-1248)Ccc>Acc	p.P416T	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P383T|DAB1_ENST00000420954.2_Missense_Mutation_p.P381T|DAB1_ENST00000371236.2_Missense_Mutation_p.P383T|DAB1_ENST00000439789.2_Missense_Mutation_p.P297T|DAB1_ENST00000414851.2_Missense_Mutation_p.P365T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	416					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGGTGAGGGGACCTTGGAAC	0.592																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1147-1149)Ccc>Acc		Dab, reelin signal transducer, homolog 1 (Drosophila)							84.0	73.0	76.0					1																	57480853		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480853G>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1246C>A	1.37:g.57480853G>T	ENSP00000360275:p.Pro416Thr					DAB1_ENST00000420954.2_Missense_Mutation_p.P381T|DAB1_ENST00000371231.1_Missense_Mutation_p.P416T|DAB1_ENST00000414851.2_Missense_Mutation_p.P365T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P297T|DAB1_ENST00000371234.4_Missense_Mutation_p.P383T	p.P383T			O75553	DAB1_HUMAN			12	1410	-			416					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1147C>A		.	.	.	.	.	.	.	.	.	.	G	9.178	1.022792	0.19433	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.58940	0.42;0.42;0.3;0.6;1.39;0.34	5.54	3.6	0.41247	.	0.349900	0.34156	N	0.004206	T	0.30166	0.0756	N	0.05351	-0.065	0.28765	N	0.900685	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.0;0.002	T	0.06320	-1.0833	10	0.34782	T	0.22	-37.567	3.4318	0.07432	0.0863:0.1302:0.5007:0.2828	.	365;416;383;297;381	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	T	383;383;383;381;365;297;416	ENSP00000360280:P383T;ENSP00000360278:P383T;ENSP00000395296:P381T;ENSP00000387581:P365T;ENSP00000409328:P297T;ENSP00000360275:P416T	ENSP00000360275:P416T	P	-	1	0	DAB1	57253441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.567000	0.45956	1.575000	0.49775	0.650000	0.86243	CCC		0.592	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		4	60	1	0	1	1	1	4	60				
AGAP2	116986	broad.mit.edu	37	12	58128172	58128172	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58128172T>G	ENST00000547588.1	-	4	1330	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	AGAP2_ENST00000257897.3_Missense_Mutation_p.K108T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	444	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAACATTTCTTTCTTGTACTG	0.542																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(322-324)aAa>aCa		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							128.0	111.0	117.0					12																	58128172		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58128172T>G	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1331A>C	12.37:g.58128172T>G	ENSP00000449241:p.Lys444Thr					AGAP2_ENST00000547588.1_Missense_Mutation_p.K444T	p.K108T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			4	408	-			444					A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.323A>C	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.354769|4.354769	0.82243|0.82243	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.68331	.|-0.32;-0.32	5.16|5.16	5.16|5.16	0.70880|0.70880	.|Mitochondrial Rho-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84920|0.84920	0.5579|0.5579	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.85130	.|0.993;0.989;0.997	D|D	0.88461|0.88461	0.3055|0.3055	5|10	.|0.87932	.|D	.|0	.|.	14.3026|14.3026	0.66362|0.66362	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|108;444;444	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	D|T	307|108;444	.|ENSP00000257897:K108T;ENSP00000449241:K444T	.|ENSP00000257897:K108T	E|K	-|-	3|2	2|0	AGAP2|AGAP2	56414439|56414439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.995000|3.995000	0.57001|0.57001	2.082000|2.082000	0.62665|0.62665	0.459000|0.459000	0.35465|0.35465	GAA|AAA		0.542	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		4	43	0	0	0	1	0	4	43				
PPP1R36	145376	broad.mit.edu	37	14	65056008	65056008	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65056008G>A	ENST00000298705.1	+	12	1317	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	407					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGGATACACTGGACTTGGTCA	0.393																																						ENST00000298705.1																			0											c.(1219-1221)ctG>ctA		protein phosphatase 1, regulatory subunit 36							138.0	120.0	126.0					14																	65056008		2203	4300	6503	SO:0001819	synonymous_variant	145376							g.chr14:65056008G>A		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.1221G>A	14.37:g.65056008G>A						RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	p.L407L	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN			12	1317	+			407					Q6NTH6	Silent	SNP	ENST00000298705.1	37	c.1221G>A	CCDS9767.1																																																																																				0.393	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		7	71	0	0	0	1	0	7	71				
NXF3	56000	broad.mit.edu	37	X	102338621	102338621	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102338621C>A	ENST00000395065.3	-	4	453		c.e4-1		NXF3_ENST00000425644.1_Splice_Site|NXF3_ENST00000425463.2_Splice_Site	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3						mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAAGGGAACCTATGAGTGAA	0.388																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.e4-1		nuclear RNA export factor 3							94.0	87.0	89.0					X																	102338621		2203	4300	6503	SO:0001630	splice_region_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102338621C>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.352-1G>T	X.37:g.102338621C>A						NXF3_ENST00000425463.2_Splice_Site|NXF3_ENST00000425644.1_Splice_Site		NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			4	453	-								B4DYS7|Q5H9I1|Q9H1A9	Splice_Site	SNP	ENST00000395065.3	37		CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	4.710	0.132056	0.08981	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.822	0.40887	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF3	102225277	1.000000	0.71417	0.606000	0.28943	0.004000	0.04260	4.909000	0.63314	2.066000	0.61787	0.600000	0.82982	.		0.388	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	Intron	25	97	1	0	3.28513e-13	1	4.1605e-13	25	97				
MFGE8	4240	broad.mit.edu	37	15	89442660	89442660	+	Missense_Mutation	SNP	C	C	T	rs568619975		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89442660C>T	ENST00000566497.1	-	8	1191	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MFGE8_ENST00000542878.1_Missense_Mutation_p.R333H|MFGE8_ENST00000268150.8_Missense_Mutation_p.R377H|MFGE8_ENST00000268151.7_Missense_Mutation_p.R325H|MFGE8_ENST00000539437.1_Missense_Mutation_p.R369H			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	377	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGGCGATGCGGTTGTGCCA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		14763	0.0		0.0	False		,,,				2504	0.001					ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(1105-1107)cGc>cAc		milk fat globule-EGF factor 8 protein							138.0	122.0	127.0					15																	89442660		2200	4299	6499	SO:0001583	missense	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89442660C>T	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.1130G>A	15.37:g.89442660C>T	ENSP00000456281:p.Arg377His					MFGE8_ENST00000268151.7_Missense_Mutation_p.R325H|MFGE8_ENST00000542878.1_Missense_Mutation_p.R333H|MFGE8_ENST00000268150.8_Missense_Mutation_p.R377H|MFGE8_ENST00000566497.1_Missense_Mutation_p.R377H	p.R369H			Q08431	MFGM_HUMAN			9	1242	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		377			F5/8 type C 2.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	c.1106G>A	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140286	0.77775	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81	4.88	4.88	0.63580	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.050198	0.85682	D	0.000000	D	0.97529	0.9191	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	0.983;1.0;1.0;0.992;0.99	P;D;D;P;P	0.79784	0.73;0.993;0.986;0.742;0.482	D	0.95888	0.8904	10	0.08381	T	0.77	-28.6414	16.6472	0.85179	0.0:1.0:0.0:0.0	.	369;333;369;325;377	B3KTQ2;F5GZN3;F5H7N9;Q08431-3;Q08431	.;.;.;.;MFGM_HUMAN	H	377;325;369;333	ENSP00000268150:R377H;ENSP00000268151:R325H;ENSP00000442386:R369H;ENSP00000444332:R333H	ENSP00000268150:R377H	R	-	2	0	MFGE8	87243664	1.000000	0.71417	0.989000	0.46669	0.821000	0.46438	3.970000	0.56824	2.272000	0.75746	0.555000	0.69702	CGC		0.622	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		37	59	0	0	0	1	0	37	59				
ATXN7L2	127002	broad.mit.edu	37	1	110032730	110032730	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032730C>T	ENST00000369870.3	+	8	1231	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	406										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTATGCAACCCGGCCCCCACG	0.667																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1216-1218)Cgg>Tgg		ataxin 7-like 2							41.0	45.0	43.0					1																	110032730		2203	4299	6502	SO:0001583	missense	127002							g.chr1:110032730C>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1216C>T	1.37:g.110032730C>T	ENSP00000358886:p.Arg406Trp						p.R406W	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	8	1231	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	406						Missense_Mutation	SNP	ENST00000369870.3	37	c.1216C>T	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302074	0.60195	.	.	ENSG00000162650	ENST00000369870;ENST00000541125;ENST00000369869	T	0.45276	0.9	5.82	5.82	0.92795	.	0.216385	0.33161	N	0.005201	T	0.21145	0.0509	L	0.37630	1.12	0.36833	D	0.886989	B	0.27498	0.18	B	0.14023	0.01	T	0.03148	-1.1067	10	0.35671	T	0.21	-6.4373	17.0061	0.86393	0.0:1.0:0.0:0.0	.	406	Q5T6C5	AT7L2_HUMAN	W	406;406;33	ENSP00000358886:R406W	ENSP00000358885:R33W	R	+	1	2	ATXN7L2	109834253	0.969000	0.33509	1.000000	0.80357	0.991000	0.79684	1.954000	0.40362	2.761000	0.94854	0.655000	0.94253	CGG		0.667	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		25	62	0	0	0	1	0	25	62				
TLN2	83660	broad.mit.edu	37	15	62939551	62939551	+	Silent	SNP	C	C	T	rs144527579	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62939551C>T	ENST00000561311.1	+	3	272	c.42C>T	c.(40-42)aaC>aaT	p.N14N	TLN2_ENST00000306829.6_Silent_p.N14N|RP11-625H11.1_ENST00000560347.1_5'Flank|RP11-625H11.1_ENST00000558940.1_5'Flank			Q9Y4G6	TLN2_HUMAN	talin 2	14					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCACTGCAACGTGGTGAAGA	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		18692	0.0		0.003	False		,,,				2504	0.0					ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(40-42)aaC>aaT		talin 2		C		0,4406		0,0,2203	192.0	165.0	174.0		42	-3.3	1.0	15	dbSNP_134	174	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TLN2	NM_015059.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		14/2543	62939551	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62939551C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.42C>T	15.37:g.62939551C>T						TLN2_ENST00000306829.6_Silent_p.N14N	p.N14N			Q9Y4G6	TLN2_HUMAN			3	272	+			14					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.42C>T	CCDS32261.1																																																																																				0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			48	45	0	0	0	1	0	48	45				
RP1	6101	broad.mit.edu	37	8	55541382	55541382	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541382T>G	ENST00000220676.1	+	4	5088	c.4940T>G	c.(4939-4941)tTt>tGt	p.F1647C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1647					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATCTTTTTTTCCTGGGTCT	0.373																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4939-4941)tTt>tGt		retinitis pigmentosa 1 (autosomal dominant)							95.0	100.0	99.0					8																	55541382		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541382T>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4940T>G	8.37:g.55541382T>G	ENSP00000220676:p.Phe1647Cys						p.F1647C	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5088	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1647						Missense_Mutation	SNP	ENST00000220676.1	37	c.4940T>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	8.731	0.916558	0.17907	.	.	ENSG00000104237	ENST00000220676	T	0.63744	-0.06	5.68	1.78	0.24846	.	0.283632	0.25598	N	0.029580	T	0.64327	0.2588	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.58820	0.846	T	0.56092	-0.8036	10	0.72032	D	0.01	-6.8641	1.1357	0.01755	0.1391:0.1629:0.2384:0.4596	.	1647	P56715	RP1_HUMAN	C	1647	ENSP00000220676:F1647C	ENSP00000220676:F1647C	F	+	2	0	RP1	55703935	0.620000	0.27068	0.117000	0.21633	0.189000	0.23516	0.999000	0.29757	0.987000	0.38709	0.533000	0.62120	TTT		0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	131	0	0	0	1	0	5	131				
RGS19	10287	broad.mit.edu	37	20	62705659	62705659	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705659T>C	ENST00000395042.1	-	5	566	c.300A>G	c.(298-300)ggA>ggG	p.G100G	RGS19_ENST00000332298.5_Silent_p.G100G|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	100	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACGCTGCGTCCCGCTGGGC	0.632																																						ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(298-300)ggA>ggG		regulator of G-protein signaling 19							54.0	47.0	49.0					20																	62705659		2203	4300	6503	SO:0001819	synonymous_variant	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705659T>C	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.300A>G	20.37:g.62705659T>C						RGS19_ENST00000332298.5_Silent_p.G100G	p.G100G	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			5	566	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		100			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	c.300A>G	CCDS13555.1																																																																																				0.632	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		5	19	0	0	0	1	0	5	19				
TYK2	7297	broad.mit.edu	37	19	10472565	10472565	+	Missense_Mutation	SNP	C	C	T	rs547427284		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10472565C>T	ENST00000525621.1	-	13	2321	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	TYK2_ENST00000529370.1_Missense_Mutation_p.G614R|TYK2_ENST00000264818.6_Missense_Mutation_p.G614R|TYK2_ENST00000524462.1_Missense_Mutation_p.G429R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	614	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGGGTCCCCGCTGCCCTCC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		16844	0.001		0.0	False		,,,				2504	0.0					ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1840-1842)Ggg>Agg		tyrosine kinase 2							91.0	82.0	85.0					19																	10472565		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10472565C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1840G>A	19.37:g.10472565C>T	ENSP00000431885:p.Gly614Arg					TYK2_ENST00000529370.1_Missense_Mutation_p.G614R|TYK2_ENST00000264818.6_Missense_Mutation_p.G614R|TYK2_ENST00000524462.1_Missense_Mutation_p.G429R	p.G614R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		13	2321	-			614			Protein kinase 1.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1840G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082990	0.36758	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.93	-3.32	0.04973	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.831206	0.09733	N	0.762890	T	0.39655	0.1086	L	0.38175	1.15	0.09310	N	1	B;B	0.31227	0.314;0.074	B;B	0.28139	0.086;0.077	T	0.32851	-0.9891	10	0.46703	T	0.11	.	5.7409	0.18094	0.1222:0.4899:0.0:0.3878	.	614;614	E9PPF2;P29597	.;TYK2_HUMAN	R	429;614;614;361;614	ENSP00000433203:G429R;ENSP00000431885:G614R;ENSP00000264818:G614R;ENSP00000432728:G614R	ENSP00000264818:G614R	G	-	1	0	TYK2	10333565	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.010000	0.12743	-0.086000	0.12550	-0.224000	0.12420	GGG		0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			5	90	0	0	0	1	0	5	90				
POLR3A	11128	broad.mit.edu	37	10	79742556	79742556	+	Missense_Mutation	SNP	C	C	A	rs371116845		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79742556C>A	ENST00000372371.3	-	27	3586	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3448-3450)aGa>aTa		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							128.0	102.0	111.0					10																	79742556		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79742556C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3449G>T	10.37:g.79742556C>A	ENSP00000361446:p.Arg1150Ile						p.R1150I	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		27	3586	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1150					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.3449G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	9.692	1.152117	0.21371	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.66995	-0.24	5.92	5.01	0.66863	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	L	0.41124	1.26	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	T	0.53493	-0.8431	9	.	.	.	-24.2459	16.698	0.85341	0.1302:0.8698:0.0:0.0	.	1150	O14802	RPC1_HUMAN	I	1150;1129	ENSP00000361446:R1150I	.	R	-	2	0	POLR3A	79412562	1.000000	0.71417	0.692000	0.30179	0.061000	0.15899	5.542000	0.67218	1.483000	0.48342	0.655000	0.94253	AGA		0.507	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		6	38	1	0	0.0215528	1	0.0221649	6	38				
SLC9C1	285335	broad.mit.edu	37	3	111888171	111888171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111888171C>T	ENST00000305815.5	-	24	3176	c.2924G>A	c.(2923-2925)tGt>tAt	p.C975Y	SLC9C1_ENST00000487372.1_Missense_Mutation_p.C927Y	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	975					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGGAATAAAACATGTCTGGAA	0.308																																						ENST00000305815.5																			0											c.(2923-2925)tGt>tAt		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							77.0	77.0	77.0					3																	111888171		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111888171C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2924G>A	3.37:g.111888171C>T	ENSP00000306627:p.Cys975Tyr					SLC9C1_ENST00000487372.1_Missense_Mutation_p.C927Y	p.C975Y	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			24	3176	-			975					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2924G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	c	1.404	-0.577212	0.03854	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.92299	-3.01;-3.01	5.83	-1.79	0.07932	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.399292	0.24803	N	0.035475	T	0.80237	0.4586	N	0.25060	0.705	0.22851	N	0.99866	B;B	0.20988	0.05;0.005	B;B	0.23150	0.044;0.007	T	0.65627	-0.6122	10	0.07813	T	0.8	-0.3593	6.7483	0.23474	0.0:0.4441:0.1232:0.4328	.	927;975	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Y	975;927	ENSP00000306627:C975Y;ENSP00000420688:C927Y	ENSP00000306627:C975Y	C	-	2	0	SLC9A10	113370861	0.104000	0.21937	0.240000	0.24138	0.230000	0.25150	-0.325000	0.07976	-0.241000	0.09681	-0.175000	0.13238	TGT		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		22	27	0	0	0	1	0	22	27				
ADAM28	10863	broad.mit.edu	37	8	24170973	24170973	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24170973G>A	ENST00000265769.4	+	6	566	c.456G>A	c.(454-456)gaG>gaA	p.E152E	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.E152E|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	152					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGACAGGAGCATGCACTCT	0.468																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(454-456)gaG>gaA		ADAM metallopeptidase domain 28							168.0	145.0	153.0					8																	24170973		2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24170973G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.456G>A	8.37:g.24170973G>A						ADAM28_ENST00000437154.2_Silent_p.E152E|ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.E152E	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	6	566	+		Prostate(55;0.0959)	152					B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.456G>A	CCDS34865.1																																																																																				0.468	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		34	49	0	0	0	1	0	34	49				
PRDM10	56980	broad.mit.edu	37	11	129788582	129788582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129788582C>A	ENST00000360871.3	-	14	2297	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	PRDM10_ENST00000528746.1_Missense_Mutation_p.R663M|PRDM10_ENST00000304538.6_Missense_Mutation_p.R603M|PRDM10_ENST00000358825.5_Missense_Mutation_p.R693M|PRDM10_ENST00000526082.1_Missense_Mutation_p.R607M|PRDM10_ENST00000423662.2_Missense_Mutation_p.R607M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	693					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATTATGCATCCTCTGCATGTG	0.493																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2077-2079)aGg>aTg		PR domain containing 10							275.0	251.0	259.0					11																	129788582		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129788582C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2066G>T	11.37:g.129788582C>A	ENSP00000354118:p.Arg689Met					PRDM10_ENST00000304538.6_Missense_Mutation_p.R603M|PRDM10_ENST00000360871.3_Missense_Mutation_p.R689M|PRDM10_ENST00000526082.1_Missense_Mutation_p.R607M|PRDM10_ENST00000423662.2_Missense_Mutation_p.R607M|PRDM10_ENST00000528746.1_Missense_Mutation_p.R663M	p.R693M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	15	2309	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	693					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2078G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424783	0.83667	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	L	0.53780	1.695	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	0.87578	0.998;0.997;0.998;0.997;0.993;0.997	T	0.67688	-0.5606	10	0.87932	D	0	-29.1327	20.04	0.97581	0.0:1.0:0.0:0.0	.	603;689;693;607;603;607	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	M	693;603;689;607;663;607;406	ENSP00000351686:R693M;ENSP00000302669:R603M;ENSP00000354118:R689M;ENSP00000398431:R607M;ENSP00000431262:R663M;ENSP00000432237:R607M;ENSP00000435940:R406M	ENSP00000302669:R603M	R	-	2	0	PRDM10	129293792	1.000000	0.71417	0.959000	0.39883	0.534000	0.34807	7.461000	0.80834	2.733000	0.93635	0.655000	0.94253	AGG		0.493	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		18	268	1	0	1.10513e-12	1	1.39297e-12	18	268				
CTAGE5	4253	broad.mit.edu	37	14	39790251	39790251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39790251G>T	ENST00000280083.3	+	19	1977	c.1663G>T	c.(1663-1665)Gga>Tga	p.G555*	CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.G475*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.G480*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.G555*|RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.G1090*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000348007.3_Intron|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.G560*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.G543*			O15320	CTGE5_HUMAN	CTAGE family, member 5	555	Poly-Gly.|Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCCAGGGGGAGGAGGAAGAGG	0.383																																						ENST00000553728.1																			0											c.(3268-3270)Gga>Tga									56.0	56.0	56.0					14																	39790251		2203	4300	6503	SO:0001587	stop_gained	0							g.chr14:39790251G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1663G>T	14.37:g.39790251G>T	ENSP00000280083:p.Gly555*					RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.G475*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.G543*|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.G480*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.G560*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.G526*	p.G1090*							23	3481	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Nonsense_Mutation	SNP	ENST00000280083.3	37	c.3268G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	44	10.548606	0.99425	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	.	.	.	5.95	5.06	0.68205	.	0.496290	0.15102	N	0.280455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5826	0.76455	0.0:0.137:0.863:0.0	.	.	.	.	X	1090;543;475;517;526;555;560;555;480;526	.	.	G	+	1	0	CTAGE5;RP11-407N17.3	38860002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.022000	0.64078	1.516000	0.48900	0.655000	0.94253	GGA		0.383	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		35	39	1	0	1.56442e-22	1	2.06521e-22	35	39				
GMPPB	29925	broad.mit.edu	37	3	49755598	49755598	+	3'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49755598G>A	ENST00000480687.1	-	0	4786				RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000535833.1_Missense_Mutation_p.S434L|RNF123_ENST00000327697.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGAGTACTGAGGACTGTGC	0.692																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1300-1302)tCa>tTa		adhesion molecule with Ig-like domain 3							82.0	75.0	77.0					3																	49755598		2203	4299	6502	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755598G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3587C>T	3.37:g.49755598G>A						RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L	p.S434L			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4751	-			434					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.1301C>T	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539234	0.65085	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.65732	-0.17;-0.17	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	L	0.61387	1.9	0.80722	D	1	D	0.53312	0.959	P	0.46076	0.503	T	0.72364	-0.4316	10	0.87932	D	0	-16.471	17.4762	0.87659	0.0:0.0:1.0:0.0	.	434	Q86WK7	AMGO3_HUMAN	L	434	ENSP00000323096:S434L;ENSP00000439268:S434L	ENSP00000323096:S434L	S	-	2	0	AMIGO3	49730602	1.000000	0.71417	0.948000	0.38648	0.072000	0.16883	7.862000	0.87013	2.490000	0.84030	0.561000	0.74099	TCA		0.692	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		6	88	0	0	0	1	0	6	88				
ZNF432	9668	broad.mit.edu	37	19	52537990	52537990	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52537990C>A	ENST00000594154.1	-	5	1154	c.942G>T	c.(940-942)gaG>gaT	p.E314D	ZNF432_ENST00000221315.5_Missense_Mutation_p.E314D			O94892	ZN432_HUMAN	zinc finger protein 432	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TATAGGATTTCTCTCCAGTAT	0.418																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(940-942)gaG>gaT		zinc finger protein 432							107.0	100.0	103.0					19																	52537990		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537990C>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.942G>T	19.37:g.52537990C>A	ENSP00000470488:p.Glu314Asp					ZNF432_ENST00000221315.5_Missense_Mutation_p.E314D	p.E314D			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1154	-		all_neural(266;0.117)	314						Missense_Mutation	SNP	ENST00000594154.1	37	c.942G>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799728	0.50208	.	.	ENSG00000256087	ENST00000221315	T	0.26810	1.71	2.9	2.9	0.33743	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38692	0.1050	L	0.42744	1.35	0.21627	N	0.999615	P	0.46656	0.882	D	0.66351	0.943	T	0.07083	-1.0791	9	0.62326	D	0.03	.	7.8953	0.29702	0.0:0.8705:0.0:0.1295	.	314	O94892	ZN432_HUMAN	D	314	ENSP00000221315:E314D	ENSP00000221315:E314D	E	-	3	2	ZNF432	57229802	0.995000	0.38212	1.000000	0.80357	0.958000	0.62258	0.396000	0.20867	1.630000	0.50440	0.585000	0.79938	GAG		0.418	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		7	110	1	0	2.0095e-06	1	2.31757e-06	7	110				
SLC25A14	9016	broad.mit.edu	37	X	129492622	129492622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129492622G>A	ENST00000218197.5	+	6	734	c.507G>A	c.(505-507)atG>atA	p.M169I	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.M166I|SLC25A14_ENST00000545805.1_Missense_Mutation_p.M169I|SLC25A14_ENST00000339231.3_Missense_Mutation_p.M166I|SLC25A14_ENST00000543953.1_Missense_Mutation_p.M134I	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	169					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGATTCGAATGCAGGCTCAAG	0.358																																						ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(400-402)atG>atA		solute carrier family 25 (mitochondrial carrier, brain), member 14							102.0	93.0	96.0					X																	129492622		2203	4300	6503	SO:0001583	missense	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129492622G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.507G>A	X.37:g.129492622G>A	ENSP00000218197:p.Met169Ile					SLC25A14_ENST00000218197.5_Missense_Mutation_p.M169I|SLC25A14_ENST00000339231.3_Missense_Mutation_p.M166I|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.M166I|SLC25A14_ENST00000545805.1_Missense_Mutation_p.M169I	p.M134I			O95258	UCP5_HUMAN			6	451	+			169					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	c.402G>A	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982410	0.93044	.	.	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000543953;ENST00000218197;ENST00000361980;ENST00000339231	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.55	5.55	0.83447	Mitochondrial carrier domain (2);	0.041428	0.85682	D	0.000000	D	0.84275	0.5436	L	0.56280	1.765	0.80722	D	1	P;P;P	0.44946	0.846;0.748;0.787	P;P;P	0.52267	0.611;0.568;0.694	D	0.84670	0.0711	10	0.52906	T	0.07	-24.2162	17.1229	0.86706	0.0:0.0:1.0:0.0	.	166;166;169	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	I	169;169;134;169;166;166	ENSP00000402578:M169I;ENSP00000444642:M169I;ENSP00000445225:M134I;ENSP00000218197:M169I;ENSP00000354455:M166I;ENSP00000342797:M166I	ENSP00000218197:M169I	M	+	3	0	SLC25A14	129320303	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.799000	0.91895	2.573000	0.86826	0.538000	0.68166	ATG		0.358	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		31	47	0	0	0	1	0	31	47				
JPH1	56704	broad.mit.edu	37	8	75227367	75227367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75227367G>A	ENST00000342232.4	-	2	908	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	290					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AAGCCGTTGCGCTTGTCGTTC	0.537																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(868-870)Cgc>Tgc		junctophilin 1							146.0	138.0	140.0					8																	75227367		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227367G>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.868C>T	8.37:g.75227367G>A	ENSP00000344488:p.Arg290Cys						p.R290C	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	908	-	Breast(64;0.00576)		290					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.868C>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865981	0.91511	.	.	ENSG00000104369	ENST00000342232	T	0.59638	0.25	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79519	-0.1770	10	0.87932	D	0	.	18.8382	0.92171	0.0:0.0:1.0:0.0	.	290	Q9HDC5	JPH1_HUMAN	C	290	ENSP00000344488:R290C	ENSP00000344488:R290C	R	-	1	0	JPH1	75389922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.587000	0.98229	2.669000	0.90835	0.655000	0.94253	CGC		0.537	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			43	55	0	0	0	1	0	43	55				
ZNF229	7772	broad.mit.edu	37	19	44933907	44933907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933907C>A	ENST00000588931.1	-	6	1482	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	ZNF229_ENST00000291187.4_Missense_Mutation_p.R344I|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACATCACATCTATAGGGCAT	0.507																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1030-1032)aGa>aTa		zinc finger protein 229							79.0	79.0	79.0					19																	44933907		1989	4189	6178	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933907C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1049G>T	19.37:g.44933907C>A	ENSP00000466519:p.Arg350Ile					ZNF229_ENST00000588931.1_Missense_Mutation_p.R350I|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	p.R344I	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1353	-		Prostate(69;0.0352)	350					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1031G>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979183	0.34942	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.16	-2.84	0.05751	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14098	0.0341	N	0.05050	-0.12	0.09310	N	1	B	0.24186	0.099	B	0.25884	0.064	T	0.20706	-1.0267	8	0.62326	D	0.03	.	0.6294	0.00791	0.1835:0.1865:0.184:0.4459	.	350	Q9UJW7	ZN229_HUMAN	I	350	.	ENSP00000291187:R350I	R	-	2	0	ZNF229	49625747	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-8.354000	0.00021	-0.606000	0.05746	0.609000	0.83330	AGA		0.507	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		34	49	1	0	1.06647e-15	1	1.37037e-15	34	49				
GLMN	11146	broad.mit.edu	37	1	92733470	92733470	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92733470C>A	ENST00000370360.3	-	11	1179	c.1098G>T	c.(1096-1098)caG>caT	p.Q366H	GLMN_ENST00000534881.1_Splice_Site_p.Q366H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	366					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTTATTTACCTGAGGTACAG	0.333									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.e11+1		glomulin, FKBP associated protein							56.0	66.0	62.0					1																	92733470		2195	4286	6481	SO:0001630	splice_region_variant	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92733470C>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1098+1G>T	1.37:g.92733470C>A						GLMN_ENST00000534881.1_Splice_Site_p.Q366_splice	p.Q366_splice	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	11	1179	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	366					Q5VVC3|Q9BVE8	Splice_Site	SNP	ENST00000370360.3	37	c.1098_splice	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365081	0.82463	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.53857	0.6;0.8	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.70275	2.135	0.27649	N	0.947463	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.942	T	0.60372	-0.7276	9	.	.	.	-2.3958	18.3238	0.90246	0.0:1.0:0.0:0.0	.	366;366	B4DJ85;Q92990	.;GLMN_HUMAN	H	366	ENSP00000359385:Q366H;ENSP00000440156:Q366H	.	Q	-	3	2	GLMN	92506058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.125000	0.64715	2.643000	0.89663	0.655000	0.94253	CAG		0.333	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070	Missense_Mutation	10	121	1	0	1.08611e-07	1	1.2824e-07	10	121				
PHKA2	5256	broad.mit.edu	37	X	18938252	18938252	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18938252G>A	ENST00000379942.4	-	18	2526	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	621					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCTGGATCCAGAAAA	0.433																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1861-1863)Cca>Tca		phosphorylase kinase, alpha 2 (liver)							162.0	143.0	150.0					X																	18938252		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18938252G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1861C>T	X.37:g.18938252G>A	ENSP00000369274:p.Pro621Ser						p.P621S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			18	2526	-	Hepatocellular(33;0.183)		621					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.1861C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209511	0.39003	.	.	ENSG00000044446	ENST00000379942	D	0.90133	-2.62	5.78	4.9	0.64082	Glycoside hydrolase 15-related (1);	0.258979	0.46442	D	0.000297	T	0.78413	0.4279	N	0.05534	-0.03	0.31746	N	0.635159	B	0.02656	0.0	B	0.11329	0.006	T	0.72491	-0.4277	10	0.19147	T	0.46	-12.359	9.6808	0.40070	0.1607:0.0:0.8393:0.0	.	621	P46019	KPB2_HUMAN	S	621	ENSP00000369274:P621S	ENSP00000369274:P621S	P	-	1	0	PHKA2	18848173	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.693000	0.47027	2.562000	0.86427	0.600000	0.82982	CCA		0.433	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		36	92	0	0	0	1	0	36	92				
ARMC5	79798	broad.mit.edu	37	16	31473784	31473784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31473784G>A	ENST00000563544.1	+	4	1462	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000457010.2_Missense_Mutation_p.A306T|ARMC5_ENST00000268314.4_Missense_Mutation_p.A306T|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Missense_Mutation_p.A338T|ARMC5_ENST00000408912.3_Missense_Mutation_p.A401T			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	306										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGATCCTCGCCAACCTGTG	0.642																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(916-918)Gcc>Acc		armadillo repeat containing 5							31.0	35.0	34.0					16																	31473784		2069	4216	6285	SO:0001583	missense	79798						binding	g.chr16:31473784G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.916G>A	16.37:g.31473784G>A	ENSP00000456877:p.Ala306Thr					ARMC5_ENST00000538189.1_Missense_Mutation_p.A338T|ARMC5_ENST00000268314.4_Missense_Mutation_p.A306T|ARMC5_ENST00000408912.3_Missense_Mutation_p.A401T|ARMC5_ENST00000563544.1_Missense_Mutation_p.A306T|ARMC5_ENST00000412665.2_Intron	p.A306T	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1617	+			306					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.916G>A	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	15.61	2.885394	0.51908	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.189301	0.45606	D	0.000358	T	0.58566	0.2131	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.76494	0.977;0.977;0.977;0.999	P;P;P;P	0.61132	0.575;0.575;0.497;0.884	T	0.53920	-0.8370	10	0.22706	T	0.39	-2.51	10.0797	0.42381	0.0:0.0:0.7992:0.2008	.	338;401;306;306	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	T	401;338;306;306	ENSP00000386125:A401T;ENSP00000443995:A338T;ENSP00000268314:A306T;ENSP00000399561:A306T	ENSP00000268314:A306T	A	+	1	0	ARMC5	31381285	0.996000	0.38824	0.977000	0.42913	0.573000	0.36030	2.401000	0.44513	2.060000	0.61445	0.450000	0.29827	GCC		0.642	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		22	15	0	0	0	1	0	22	15				
SPG20	23111	broad.mit.edu	37	13	36886330	36886330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36886330C>T	ENST00000451493.1	-	8	1902	c.1685G>A	c.(1684-1686)tGc>tAc	p.C562Y	SPG20_ENST00000355182.4_Missense_Mutation_p.C562Y|SPG20_ENST00000438666.2_Missense_Mutation_p.C562Y|SPG20_ENST00000494062.2_Missense_Mutation_p.C562Y	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	562					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GTTAACGATGCATTTAGCTGC	0.323																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1684-1686)tGc>tAc		spastic paraplegia 20 (Troyer syndrome)							100.0	108.0	105.0					13																	36886330		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36886330C>T	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1685G>A	13.37:g.36886330C>T	ENSP00000414147:p.Cys562Tyr					SPG20_ENST00000438666.2_Missense_Mutation_p.C562Y|SPG20_ENST00000494062.2_Missense_Mutation_p.C562Y|SPG20_ENST00000355182.4_Missense_Mutation_p.C562Y	p.C562Y	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	8	1902	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	562					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1685G>A	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526417	0.44969	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88586	-2.4;-2.4;-2.4	5.86	5.86	0.93980	Senescence/spartin-associated (1);	0.161622	0.64402	D	0.000019	D	0.91482	0.7311	L	0.44542	1.39	0.37203	D	0.90447	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.972	D	0.92657	0.6138	10	0.56958	D	0.05	-11.2894	13.4018	0.60887	0.0:0.9285:0.0:0.0715	.	562;562	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	Y	562	ENSP00000406061:C562Y;ENSP00000347314:C562Y;ENSP00000414147:C562Y	ENSP00000347314:C562Y	C	-	2	0	SPG20	35784330	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.786000	0.38694	2.781000	0.95711	0.650000	0.86243	TGC		0.323	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			14	45	0	0	0	1	0	14	45				
ICE2	79664	broad.mit.edu	37	15	60760498	60760498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:60760498G>T	ENST00000261520.4	-	4	404	c.170C>A	c.(169-171)gCc>gAc	p.A57D	NARG2_ENST00000558654.1_Intron|NARG2_ENST00000561114.1_Missense_Mutation_p.A57D|NARG2_ENST00000439632.1_Intron	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACTTGCTGAGGCATTCAAATT	0.343																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(169-171)gCc>gAc		NMDA receptor regulated 2							79.0	77.0	78.0					15																	60760498		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60760498G>T																												ENST00000261520.4:c.170C>A	15.37:g.60760498G>T	ENSP00000261520:p.Ala57Asp					NARG2_ENST00000439632.1_Intron|NARG2_ENST00000561114.1_Missense_Mutation_p.A57D|NARG2_ENST00000558654.1_Intron	p.A57D	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			4	404	-			57						Missense_Mutation	SNP	ENST00000261520.4	37	c.170C>A	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734716	0.69189	.	.	ENSG00000128915	ENST00000261520	.	.	.	5.87	4.94	0.65067	.	0.321554	0.31156	N	0.008160	T	0.39200	0.1069	L	0.27053	0.805	0.26036	N	0.981671	D	0.71674	0.998	P	0.61477	0.889	T	0.17684	-1.0361	9	0.27082	T	0.32	-4.4021	9.8093	0.40812	0.1647:0.0:0.8353:0.0	.	57	Q659A1	NARG2_HUMAN	D	57	.	ENSP00000261520:A57D	A	-	2	0	NARG2	58547790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.263000	0.43293	1.466000	0.48025	0.549000	0.68633	GCC		0.343	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			28	42	1	0	1.39806e-14	1	1.78606e-14	28	42				
EEPD1	80820	broad.mit.edu	37	7	36194070	36194070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36194070C>T	ENST00000242108.4	+	2	855	c.137C>T	c.(136-138)aCg>aTg	p.T46M	EEPD1_ENST00000534978.1_Missense_Mutation_p.T46M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	46	HhH.				DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AACACTGCCACGGAGGAGGAG	0.587																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(136-138)aCg>aTg		endonuclease/exonuclease/phosphatase family domain containing 1							118.0	117.0	117.0					7																	36194070		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194070C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.137C>T	7.37:g.36194070C>T	ENSP00000242108:p.Thr46Met					EEPD1_ENST00000534978.1_Missense_Mutation_p.T46M	p.T46M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	855	+			46			HhH.		Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.137C>T	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821347	0.90873	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.28454	1.61;1.61	5.68	5.68	0.88126	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);	0.100619	0.64402	D	0.000002	T	0.65481	0.2695	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.73263	-0.4038	10	0.87932	D	0	-16.6118	19.7989	0.96497	0.0:1.0:0.0:0.0	.	46	Q7L9B9	EEPD1_HUMAN	M	46	ENSP00000242108:T46M;ENSP00000442692:T46M	ENSP00000242108:T46M	T	+	2	0	EEPD1	36160595	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.700000	0.84556	2.683000	0.91414	0.561000	0.74099	ACG		0.587	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		33	104	0	0	0	1	0	33	104				
SBDS	51119	broad.mit.edu	37	7	66459326	66459326	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66459326T>C	ENST00000246868.2	-	2	314	c.131A>G	c.(130-132)gAa>gGa	p.E44G	TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	44			E -> G (in SDS). {ECO:0000269|PubMed:12496757}.		bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GAGGTCTTTTTCCCTTGTGAG	0.413			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	GRCh37	CM030101	SBDS	M		c.(130-132)gAa>gGa		Shwachman-Bodian-Diamond syndrome							96.0	89.0	91.0					7																	66459326		2203	4300	6503	SO:0001583	missense	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66459326T>C	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.131A>G	7.37:g.66459326T>C	ENSP00000246868:p.Glu44Gly						p.E44G	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			2	314	-			44		E -> G (in SDS).			A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	c.131A>G	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579197	0.86645	.	.	ENSG00000126524	ENST00000246868	D	0.96554	-4.05	4.73	4.73	0.59995	Ribosome maturation protein SBDS, conserved site (1);Ribosome maturation protein SBDS, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98917	1.0782	10	0.72032	D	0.01	-27.872	12.2034	0.54339	0.0:0.0:0.0:1.0	.	44	Q9Y3A5	SBDS_HUMAN	G	44	ENSP00000246868:E44G	ENSP00000246868:E44G	E	-	2	0	SBDS	66096761	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.943000	0.75934	1.998000	0.58463	0.459000	0.35465	GAA		0.413	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		10	93	0	0	0	1	0	10	93				
BAZ2A	11176	broad.mit.edu	37	12	56996556	56996556	+	Missense_Mutation	SNP	C	C	T	rs544352871	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56996556C>T	ENST00000551812.1	-	19	3564	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1094H|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1092H|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1122H	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1124					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TACCCAGTAGCGACGTCTGTA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		19010	0.001		0.001	False		,,,				2504	0.0					ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(3274-3276)cGc>cAc		bromodomain adjacent to zinc finger domain, 2A							64.0	60.0	61.0					12																	56996556		1922	4118	6040	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56996556C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3371G>A	12.37:g.56996556C>T	ENSP00000446880:p.Arg1124His					BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1122H|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1094H|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1124H	p.R1092H			Q9UIF9	BAZ2A_HUMAN			20	3474	-			1124					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.3275G>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488175	0.64074	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.77098	-0.91;-0.91;-0.97;-1.07;-0.97	5.31	3.47	0.39725	.	0.260506	0.37809	N	0.001937	T	0.63414	0.2509	N	0.25426	0.745	0.38488	D	0.947903	B;B;B	0.26876	0.162;0.071;0.101	B;B;B	0.18871	0.023;0.023;0.01	T	0.61372	-0.7076	10	0.49607	T	0.09	-0.3777	10.3081	0.43693	0.0:0.8341:0.0:0.1659	.	1122;1124;1124	F8VU39;Q9UIF9-3;Q9UIF9	.;.;BAZ2A_HUMAN	H	1094;1092;1124;60;1122	ENSP00000368754:R1094H;ENSP00000179765:R1092H;ENSP00000446880:R1124H;ENSP00000448760:R60H;ENSP00000447941:R1122H	ENSP00000179765:R1092H	R	-	2	0	BAZ2A	55282823	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	3.185000	0.50934	0.726000	0.32339	0.655000	0.94253	CGC		0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		5	25	0	0	0	1	0	5	25				
TBX22	50945	broad.mit.edu	37	X	79282315	79282315	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79282315T>G	ENST00000373294.5	+	5	774	c.746T>G	c.(745-747)tTc>tGc	p.F249C	TBX22_ENST00000373296.3_Missense_Mutation_p.F249C|TBX22_ENST00000442340.1_Missense_Mutation_p.F129C|TBX22_ENST00000373291.1_Missense_Mutation_p.F129C	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	249			F -> Y. {ECO:0000269|PubMed:23033978}.		multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTAAAACATTCTCCTTTAAA	0.478																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(385-387)tTc>tGc		T-box 22							122.0	93.0	103.0					X																	79282315		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282315T>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.746T>G	X.37:g.79282315T>G	ENSP00000362390:p.Phe249Cys					TBX22_ENST00000373294.5_Missense_Mutation_p.F249C|TBX22_ENST00000373296.3_Missense_Mutation_p.F249C|TBX22_ENST00000373291.1_Missense_Mutation_p.F129C	p.F129C	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			6	876	+			249					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.386T>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.317195	0.60524	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	3.68	3.68	0.42216	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95927	0.8935	10	0.87932	D	0	.	10.7296	0.46089	0.0:0.0:0.0:1.0	.	249	Q9Y458	TBX22_HUMAN	C	249;129;249;129	ENSP00000362393:F249C;ENSP00000396394:F129C;ENSP00000362390:F249C;ENSP00000362388:F129C	ENSP00000362388:F129C	F	+	2	0	TBX22	79168971	1.000000	0.71417	0.970000	0.41538	0.750000	0.42670	6.991000	0.76232	1.470000	0.48102	0.481000	0.45027	TTC		0.478	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		3	70	0	0	0	1	0	3	70				
LTBP1	4052	broad.mit.edu	37	2	33568012	33568012	+	Missense_Mutation	SNP	G	G	A	rs140281612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33568012G>A	ENST00000404816.2	+	25	4191	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	LTBP1_ENST00000407925.1_Missense_Mutation_p.D954N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.D901N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1281N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D955N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D901N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1280	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCCCACAGGATGGGCAAGG	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17177	0.0		0.0	False		,,,				2504	0.0					ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3838-3840)Gat>Aat		latent transforming growth factor beta binding protein 1		G	ASN/ASP,,ASN/ASP,,ASN/ASP	6,4400	12.9+/-30.5	0,6,2197	85.0	72.0	77.0		2860,,2701,,3838	5.9	1.0	2	dbSNP_134	77	0,8600		0,0,4300	yes	missense,intron,missense,intron,missense	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	23,,23,,23	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,,probably-damaging,,probably-damaging	954/1396,,901/1343,,1280/1722	33568012	6,13000	2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33568012G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3838G>A	2.37:g.33568012G>A	ENSP00000386043:p.Asp1280Asn					LTBP1_ENST00000402934.1_Missense_Mutation_p.D901N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D901N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1281N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.D955N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D954N|LTBP1_ENST00000418533.2_Intron	p.D1280N			Q14766	LTBP1_HUMAN			25	4191	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1280			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3838G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970980	0.92919	0.001362	0.0	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	5.91	5.91	0.95273	.	.	.	.	.	D	0.97346	0.9132	L	0.52759	1.655	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.948;0.999;0.997;0.999	D	0.95708	0.8755	9	0.23891	T	0.37	.	20.3045	0.98621	0.0:0.0:1.0:0.0	.	901;954;955;1281	Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	N	1280;1281;955;901;901;954	ENSP00000386043:D1280N;ENSP00000346467:D1281N;ENSP00000374653:D955N;ENSP00000384373:D901N;ENSP00000385359:D901N;ENSP00000384091:D954N	ENSP00000346467:D1281N	D	+	1	0	LTBP1	33421516	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.015000	0.76387	2.807000	0.96579	0.557000	0.71058	GAT		0.463	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		15	30	0	0	0	1	0	15	30				
C7orf25	79020	broad.mit.edu	37	7	42950214	42950214	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42950214C>A	ENST00000350427.4	-	2	561	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	C7orf25_ENST00000431882.2_Missense_Mutation_p.D154Y|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.D96Y|C7orf25_ENST00000438029.1_Missense_Mutation_p.D96Y			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	96										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTAAGGTATCTGTATAACCA	0.428																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(286-288)Gat>Tat		chromosome 7 open reading frame 25							163.0	154.0	157.0					7																	42950214		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42950214C>A	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.286G>T	7.37:g.42950214C>A	ENSP00000343364:p.Asp96Tyr					C7orf25_ENST00000431882.2_Missense_Mutation_p.D154Y|C7orf25_ENST00000438029.1_Missense_Mutation_p.D96Y|C7orf25_ENST00000447342.1_Missense_Mutation_p.D96Y|PSMA2_ENST00000442788.1_3'UTR	p.D96Y			Q9BPX7	CG025_HUMAN			2	561	-			96					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.286G>T	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517581	0.64634	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683;ENST00000421724	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.66	5.66	0.87406	.	0.098253	0.64402	D	0.000002	T	0.69967	0.3170	M	0.72894	2.215	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.454	D;D;B	0.77557	0.99;0.99;0.123	T	0.71368	-0.4614	10	0.66056	D	0.02	-2.7567	19.7433	0.96241	0.0:1.0:0.0:0.0	.	96;154;96	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	Y	96;96;154;96;96;110	ENSP00000343364:D96Y;ENSP00000413029:D96Y;ENSP00000416290:D154Y;ENSP00000396597:D96Y;ENSP00000413106:D96Y	ENSP00000343364:D96Y	D	-	1	0	C7orf25	42916739	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.743000	0.68655	2.662000	0.90505	0.555000	0.69702	GAT		0.428	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		13	188	1	0	0.00316338	1	0.00334491	13	188				
PTX4	390667	broad.mit.edu	37	16	1537798	1537798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537798C>A	ENST00000447419.2	-	2	340	c.315G>T	c.(313-315)aaG>aaT	p.K105N	PTX4_ENST00000440447.2_Missense_Mutation_p.K105N|PTX4_ENST00000293922.1_Missense_Mutation_p.K100N			Q96A99	PTX4_HUMAN	pentraxin 4, long	105						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCACCCAGGCCTTGAGCTGCG	0.701																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(313-315)aaG>aaT		pentraxin 4, long							50.0	54.0	53.0					16																	1537798		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537798C>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.315G>T	16.37:g.1537798C>A	ENSP00000445277:p.Lys105Asn					PTX4_ENST00000440447.2_Missense_Mutation_p.K105N|PTX4_ENST00000293922.1_Missense_Mutation_p.K100N	p.K105N			Q96A99	PTX4_HUMAN			2	340	-			105						Missense_Mutation	SNP	ENST00000447419.2	37	c.315G>T		.	.	.	.	.	.	.	.	.	.	C	14.71	2.616181	0.46631	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.09163	3.15;3.01	5.54	4.59	0.56863	.	0.494333	0.20610	N	0.088990	T	0.17023	0.0409	L	0.42245	1.32	0.42717	D	0.993666	D	0.56746	0.977	P	0.55923	0.787	T	0.00274	-1.1857	10	0.72032	D	0.01	.	7.512	0.27579	0.0:0.8229:0.0:0.1771	.	100	Q96A99-2	.	N	105;100	ENSP00000445277:K105N;ENSP00000293922:K100N	ENSP00000293922:K100N	K	-	3	2	PTX4	1477799	0.025000	0.19082	0.058000	0.19502	0.006000	0.05464	0.204000	0.17335	2.622000	0.88805	0.555000	0.69702	AAG		0.701	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		6	77	1	0	0.27861	1	0.279982	6	77				
MECOM	2122	broad.mit.edu	37	3	168802722	168802722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168802722G>A	ENST00000464456.1	-	15	4304	c.3104C>T	c.(3103-3105)gCt>gTt	p.A1035V	MECOM_ENST00000468789.1_Missense_Mutation_p.A1044V|MECOM_ENST00000433243.2_Missense_Mutation_p.A1045V|MECOM_ENST00000264674.3_Missense_Mutation_p.A1109V|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000392736.3_Missense_Mutation_p.A1044V|MECOM_ENST00000494292.1_Missense_Mutation_p.A1223V|MECOM_ENST00000472280.1_Missense_Mutation_p.A1045V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGACTGGATAGCACTGGATTC	0.498																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(3103-3105)gCt>gTt		MDS1 and EVI1 complex locus							171.0	152.0	158.0					3																	168802722		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168802722G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.3104C>T	3.37:g.168802722G>A	ENSP00000419770:p.Ala1035Val					MECOM_ENST00000472280.1_Missense_Mutation_p.A1045V|MECOM_ENST00000468789.1_Missense_Mutation_p.A1044V|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000433243.2_Missense_Mutation_p.A1045V|MECOM_ENST00000392736.3_Missense_Mutation_p.A1044V|MECOM_ENST00000264674.3_Missense_Mutation_p.A1109V|MECOM_ENST00000494292.1_Missense_Mutation_p.A1223V	p.A1035V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			15	4304	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.3104C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215127	0.39102	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000433243	T;T;T;T;T;T;T	0.07908	3.22;3.21;3.16;3.31;3.15;3.21;3.31	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.17238	0.0414	L	0.54323	1.7	0.53005	D	0.999961	P;P;P;P	0.50156	0.932;0.872;0.932;0.889	P;B;P;B	0.47402	0.546;0.392;0.546;0.344	T	0.00070	-1.2134	10	0.87932	D	0	-10.4391	20.0368	0.97565	0.0:0.0:1.0:0.0	.	1232;1036;1109;1044	Q03112-3;Q03112-6;Q03112-4;Q03112	.;.;.;EVI1_HUMAN	V	1109;1044;1035;1045;1223;1044;1045	ENSP00000264674:A1109V;ENSP00000376493:A1044V;ENSP00000419770:A1035V;ENSP00000420048:A1045V;ENSP00000417899:A1223V;ENSP00000419995:A1044V;ENSP00000394302:A1045V	ENSP00000264674:A1109V	A	-	2	0	MECOM	170285416	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	7.220000	0.78008	2.735000	0.93741	0.563000	0.77884	GCT		0.498	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		32	59	0	0	0	1	0	32	59				
CCL20	6364	broad.mit.edu	37	2	228678644	228678644	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228678644G>T	ENST00000358813.4	+	1	75	c.17G>T	c.(16-18)aGt>aTt	p.S6I	CCL20_ENST00000409189.3_Missense_Mutation_p.S6I			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	6					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TGTACCAAGAGTTTGCTCCTG	0.483																																						ENST00000409189.3																			0				cervix(1)|lung(2)	3						c.(16-18)aGt>aTt		chemokine (C-C motif) ligand 20							189.0	172.0	178.0					2																	228678644		2203	4300	6503	SO:0001583	missense	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228678644G>T	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.17G>T	2.37:g.228678644G>T	ENSP00000351671:p.Ser6Ile					CCL20_ENST00000358813.4_Missense_Mutation_p.S6I	p.S6I	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	1	87	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	6					Q53S51|Q99664	Missense_Mutation	SNP	ENST00000358813.4	37	c.17G>T	CCDS2469.1	.	.	.	.	.	.	.	.	.	.	G	4.932	0.173131	0.09391	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.03689	4.01;3.84	5.12	-6.57	0.01842	.	2.023810	0.01988	N	0.045284	T	0.01870	0.0059	.	.	.	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.002	T	0.43475	-0.9389	9	0.22706	T	0.39	0.9911	0.609	0.00758	0.3916:0.2152:0.175:0.2183	.	6;6	P78556-2;P78556	.;CCL20_HUMAN	I	6	ENSP00000386273:S6I;ENSP00000351671:S6I	ENSP00000351671:S6I	S	+	2	0	CCL20	228386888	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.962000	0.01514	-0.966000	0.03587	0.655000	0.94253	AGT		0.483	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		5	91	1	0	0.000602214	1	0.000649039	5	91				
SLC25A33	84275	broad.mit.edu	37	1	9627405	9627405	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9627405A>G	ENST00000302692.6	+	3	510	c.300A>G	c.(298-300)ggA>ggG	p.G100G		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	100					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTGGTTGGAGTTGCACCAT	0.423																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(298-300)ggA>ggG		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							141.0	149.0	146.0					1																	9627405		2203	4300	6503	SO:0001819	synonymous_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9627405A>G	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.300A>G	1.37:g.9627405A>G							p.G100G	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	3	510	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	100						Silent	SNP	ENST00000302692.6	37	c.300A>G	CCDS103.1																																																																																				0.423	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		47	91	0	0	0	1	0	47	91				
HERC1	8925	broad.mit.edu	37	15	63956725	63956725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63956725G>A	ENST00000443617.2	-	43	8711	c.8624C>T	c.(8623-8625)gCg>gTg	p.A2875V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2875					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTGTTACCGCTGAGCGACC	0.428																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(8623-8625)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							123.0	131.0	128.0					15																	63956725		1964	4155	6119	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63956725G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8624C>T	15.37:g.63956725G>A	ENSP00000390158:p.Ala2875Val						p.A2875V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			43	8711	-			2875					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.8624C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674551	0.67928	.	.	ENSG00000103657	ENST00000443617	T	0.23552	1.9	5.79	5.79	0.91817	.	0.325592	0.27202	N	0.020446	T	0.22003	0.0530	L	0.29908	0.895	0.36496	D	0.868702	B	0.27971	0.196	B	0.22601	0.04	T	0.09185	-1.0686	10	0.24483	T	0.36	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	2875	Q15751	HERC1_HUMAN	V	2875	ENSP00000390158:A2875V	ENSP00000390158:A2875V	A	-	2	0	HERC1	61743778	1.000000	0.71417	0.987000	0.45799	0.901000	0.52897	6.756000	0.74919	2.718000	0.92993	0.655000	0.94253	GCG		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	42	0	0	0	1	0	7	42				
GPR126	57211	broad.mit.edu	37	6	142714127	142714127	+	Missense_Mutation	SNP	G	G	A	rs144911800	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142714127G>A	ENST00000230173.6	+	8	1827	c.1351G>A	c.(1351-1353)Gtt>Att	p.V451I	GPR126_ENST00000296932.8_Missense_Mutation_p.V423I|GPR126_ENST00000367609.3_Missense_Mutation_p.V451I|GPR126_ENST00000367608.2_Missense_Mutation_p.V423I	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	451					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGTTTATGTCGTTAATATCAG	0.289													G|||	7	0.00139776	0.003	0.0029	5008	,	,		17295	0.0		0.001	False		,,,				2504	0.0					ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1351-1353)Gtt>Att		G protein-coupled receptor 126		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	3,3607		0,3,1802	64.0	62.0	63.0		1267,1267,1351,1351	3.0	1.0	6	dbSNP_134	63	8,8136		0,8,4064	yes	missense,missense,missense,missense	GPR126	NM_001032394.2,NM_001032395.2,NM_020455.5,NM_198569.2	29,29,29,29	0,11,5866	AA,AG,GG		0.0982,0.0831,0.0936	benign,benign,benign,benign	423/1194,423/1223,451/1222,451/1251	142714127	11,11743	1805	4072	5877	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142714127G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1351G>A	6.37:g.142714127G>A	ENSP00000230173:p.Val451Ile					GPR126_ENST00000367608.2_Missense_Mutation_p.V423I|GPR126_ENST00000296932.8_Missense_Mutation_p.V423I|GPR126_ENST00000367609.3_Missense_Mutation_p.V451I	p.V451I	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	8	1827	+	Breast(32;0.176)		451					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.1351G>A	CCDS47490.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	5.855	0.342027	0.11069	8.31E-4	9.82E-4	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.69	2.95	0.34219	.	0.221644	0.31312	N	0.007863	T	0.15305	0.0369	L	0.55481	1.735	0.37189	D	0.90386	B;B;B;B	0.22276	0.01;0.067;0.01;0.006	B;B;B;B	0.15870	0.005;0.014;0.009;0.004	T	0.08432	-1.0722	10	0.12766	T	0.61	.	9.1387	0.36890	0.1389:0.0:0.7391:0.122	.	423;451;423;451	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	I	451;423;423;451	ENSP00000230173:V451I;ENSP00000356580:V423I;ENSP00000296932:V423I;ENSP00000356581:V451I	ENSP00000230173:V451I	V	+	1	0	GPR126	142755820	1.000000	0.71417	0.997000	0.53966	0.479000	0.33129	1.847000	0.39299	0.334000	0.23590	-1.069000	0.02264	GTT		0.289	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			16	24	0	0	0	1	0	16	24				
DLG4	1742	broad.mit.edu	37	17	7099810	7099810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7099810C>T	ENST00000399506.2	-	10	1359	c.1168G>A	c.(1168-1170)Gct>Act	p.A390T	DLG4_ENST00000399510.2_Missense_Mutation_p.A433T|DLG4_ENST00000302955.6_Missense_Mutation_p.A387T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	390	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TTATACTGAGCGATGATCGTG	0.547																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1297-1299)Gct>Act		discs, large homolog 4 (Drosophila)							75.0	72.0	73.0					17																	7099810		2088	4205	6293	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7099810C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1168G>A	17.37:g.7099810C>T	ENSP00000382425:p.Ala390Thr					DLG4_ENST00000399506.2_Missense_Mutation_p.A390T|DLG4_ENST00000302955.6_Missense_Mutation_p.A387T	p.A433T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			12	2149	-			390			SH3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1297G>A		.	.	.	.	.	.	.	.	.	.	C	16.43	3.121204	0.56613	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.52754	0.65;0.65;0.65	4.28	4.28	0.50868	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.51363	0.1670	L	0.28054	0.825	0.51482	D	0.999927	P;P;B;B	0.48230	0.907;0.845;0.054;0.081	P;B;B;B	0.59761	0.863;0.387;0.046;0.015	T	0.50482	-0.8823	9	0.41790	T	0.15	.	14.277	0.66187	0.0:1.0:0.0:0.0	.	430;390;387;433	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	T	390;387;433;433;330;433	ENSP00000382425:A390T;ENSP00000307471:A387T;ENSP00000382428:A433T	ENSP00000293813:A433T	A	-	1	0	DLG4	7040534	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	3.529000	0.53532	2.210000	0.71456	0.563000	0.77884	GCT		0.547	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		15	26	0	0	0	1	0	15	26				
PGBD2	267002	broad.mit.edu	37	1	249211110	249211110	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211110G>T	ENST00000329291.5	+	3	474	c.327G>T	c.(325-327)caG>caT	p.Q109H	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.Q106H	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	109										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAACCTCAGCGCATTTGGA	0.517																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(316-318)caG>caT		piggyBac transposable element derived 2							56.0	60.0	59.0					1																	249211110		2203	4300	6503	SO:0001583	missense	0							g.chr1:249211110G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.327G>T	1.37:g.249211110G>T	ENSP00000331643:p.Gln109His					PGBD2_ENST00000329291.5_Missense_Mutation_p.Q109H|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron	p.Q106H			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	573	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	109					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.318G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	8.079	0.771995	0.16051	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.12361	2.69;2.69	3.84	1.79	0.24919	.	.	.	.	.	T	0.08758	0.0217	N	0.22421	0.69	0.09310	N	1	P;P	0.44380	0.834;0.641	B;B	0.40101	0.319;0.087	T	0.23547	-1.0185	9	0.42905	T	0.14	-26.1016	6.0612	0.19839	0.2596:0.0:0.7404:0.0	.	106;109	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	109;106	ENSP00000331643:Q109H;ENSP00000439950:Q106H	ENSP00000331643:Q109H	Q	+	3	2	PGBD2	247177733	0.009000	0.17119	0.008000	0.14137	0.022000	0.10575	0.293000	0.19029	0.334000	0.23590	0.655000	0.94253	CAG		0.517	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			9	57	1	0	0.000274275	1	0.000298791	9	57				
DDX54	79039	broad.mit.edu	37	12	113600941	113600941	+	Missense_Mutation	SNP	G	G	A	rs374730367		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113600941G>A	ENST00000306014.5	-	16	2104	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	DDX54_ENST00000314045.7_Missense_Mutation_p.R693W|DDX54_ENST00000549271.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	693			R -> Q (in dbSNP:rs11564).		ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCACCCCCGCTCGCTGTCA	0.642																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2077-2079)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	48.0	56.0	53.0		2077,2077	1.9	1.0	12		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DDX54	NM_001111322.1,NM_024072.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	693/883,693/882	113600941	1,13005	2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113600941G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2077C>T	12.37:g.113600941G>A	ENSP00000304072:p.Arg693Trp					DDX54_ENST00000306014.5_Missense_Mutation_p.R693W	p.R693W	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			16	2104	-			693		R -> Q (in dbSNP:rs11564).			Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2077C>T	CCDS31907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.419291|4.419291	0.83559|0.83559	0.0|0.0	1.16E-4|1.16E-4	ENSG00000123064|ENSG00000123064	ENST00000546898|ENST00000314045;ENST00000306014	.|T;T	.|0.12465	.|2.68;2.69	5.1|5.1	1.88|1.88	0.25563|0.25563	.|.	.|0.112829	.|0.56097	.|D	.|0.000030	T|T	0.29945|0.29945	0.0749|0.0749	M|M	0.73598|0.73598	2.24|2.24	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D	.|0.69078	.|0.997;0.996	.|P;P	.|0.57846	.|0.828;0.677	T|T	0.31336|0.31336	-0.9947|-0.9947	5|10	.|0.72032	.|D	.|0.01	.|.	13.2407|13.2407	0.59995|0.59995	0.0:0.0:0.4908:0.5092|0.0:0.0:0.4908:0.5092	.|.	.|693;693	.|Q8TDD1-2;Q8TDD1	.|.;DDX54_HUMAN	V|W	95|693	.|ENSP00000323858:R693W;ENSP00000304072:R693W	.|ENSP00000304072:R693W	A|R	-|-	2|1	0|2	DDX54|DDX54	112085324|112085324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.484000|1.484000	0.35508|0.35508	1.117000|1.117000	0.41842|0.41842	0.643000|0.643000	0.83706|0.83706	GCG|CGG		0.642	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		11	19	0	0	0	1	0	11	19				
DDX52	11056	broad.mit.edu	37	17	35986132	35986132	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35986132A>G	ENST00000349699.2	-	8	988	c.945T>C	c.(943-945)ctT>ctC	p.L315L	DDX52_ENST00000394367.3_Silent_p.L207L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	315	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CGTCTACTACAAGCCACTCAA	0.443																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(943-945)ctT>ctC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							60.0	58.0	58.0					17																	35986132		2203	4300	6503	SO:0001819	synonymous_variant	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35986132A>G	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.945T>C	17.37:g.35986132A>G						DDX52_ENST00000394367.3_Silent_p.L207L	p.L315L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			8	988	-		Breast(25;0.00637)|Ovarian(249;0.15)	315			Helicase ATP-binding.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Silent	SNP	ENST00000349699.2	37	c.945T>C	CCDS11323.1																																																																																				0.443	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		4	32	0	0	0	1	0	4	32				
TTN	7273	broad.mit.edu	37	2	179424591	179424591	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179424591A>G	ENST00000591111.1	-	276	81569	c.81345T>C	c.(81343-81345)atT>atC	p.I27115I	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.I19691I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I19816I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I26188I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.I28756I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I19883I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27115	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACTGTCAATATCAAATA	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86266-86268)atT>atC		titin							132.0	128.0	129.0					2																	179424591		1947	4148	6095	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424591A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81345T>C	2.37:g.179424591A>G						TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.I19691I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.I26188I|TTN_ENST00000359218.5_Silent_p.I19816I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I19883I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.I27115I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.I28756I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86492	-			27115			Fibronectin type-III 109.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.86268T>C																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	121	0	0	0	1	0	13	121				
SLTM	79811	broad.mit.edu	37	15	59179566	59179566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179566C>T	ENST00000380516.2	-	18	2636	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.R419Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	850	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTTTCGTCTCGCTCCCCTCG	0.493																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2548-2550)cGa>cAa		SAFB-like, transcription modulator							294.0	252.0	266.0					15																	59179566		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179566C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2549G>A	15.37:g.59179566C>T	ENSP00000369887:p.Arg850Gln					SLTM_ENST00000536328.1_Missense_Mutation_p.R419Q	p.R850Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			18	2636	-			850			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2549G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630813	0.87660	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.13196	2.61	5.68	5.68	0.88126	.	0.000000	0.47852	D	0.000214	T	0.16471	0.0396	L	0.42245	1.32	0.52099	D	0.999942	D;P	0.57899	0.981;0.803	P;B	0.46543	0.52;0.209	T	0.00657	-1.1623	10	0.37606	T	0.19	.	13.0521	0.58960	0.0:0.9268:0.0:0.0732	.	850;419	Q9NWH9;A8K5V8	SLTM_HUMAN;.	Q	850;416;419	ENSP00000369887:R850Q	ENSP00000369887:R850Q	R	-	2	0	SLTM	56966858	0.999000	0.42202	0.315000	0.25238	0.824000	0.46624	4.030000	0.57260	2.673000	0.90976	0.563000	0.77884	CGA		0.493	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	72	0	0	0	1	0	8	72				
OBSCN	84033	broad.mit.edu	37	1	228402554	228402554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402554C>A	ENST00000422127.1	+	5	1627	c.1583C>A	c.(1582-1584)tCc>tAc	p.S528Y	C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Missense_Mutation_p.S528Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S528Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGGAGAGTTCCGTGATTCTC	0.597																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1582-1584)tCc>tAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							58.0	63.0	62.0					1																	228402554		1975	4143	6118	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228402554C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1583C>A	1.37:g.228402554C>A	ENSP00000409493:p.Ser528Tyr					OBSCN_ENST00000284548.11_Missense_Mutation_p.S528Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S528Y	p.S528Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			5	1657	+		Prostate(94;0.0405)	528			Fibronectin type-III 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.1583C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146157	0.37923	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.62788	0.0;0.0	4.98	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.071064	0.64402	D	0.000018	T	0.76205	0.3955	L	0.53617	1.68	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.982	T	0.78196	-0.2298	10	0.72032	D	0.01	.	18.4466	0.90686	0.0:1.0:0.0:0.0	.	528;528	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	528	ENSP00000284548:S528Y;ENSP00000409493:S528Y	ENSP00000284548:S528Y	S	+	2	0	OBSCN	226469177	1.000000	0.71417	0.997000	0.53966	0.090000	0.18270	4.595000	0.61048	2.595000	0.87683	0.655000	0.94253	TCC		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	11	1	0	1.61879e-10	1	1.99744e-10	13	11				
MMP20	9313	broad.mit.edu	37	11	102487664	102487664	+	Missense_Mutation	SNP	C	C	T	rs199926748	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102487664C>T	ENST00000260228.2	-	2	265	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	75					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G85W(1)|p.G85R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TCTAACTTCCCGGTGACTTGG	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		20138	0.002		0.0	False		,,,				2504	0.0					ENST00000260228.2																			2	Substitution - Missense(2)	p.G85W(1)|p.G85R(1)	lung(1)|kidney(1)	endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(253-255)Ggg>Agg		matrix metallopeptidase 20							183.0	157.0	166.0					11																	102487664		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487664C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.253G>A	11.37:g.102487664C>T	ENSP00000260228:p.Gly85Arg					RP11-817J15.2_ENST00000542119.1_RNA	p.G85R	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	2	265	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	85					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.253G>A	CCDS8318.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.61	3.860194	0.71834	.	.	ENSG00000137674	ENST00000260228	D	0.90197	-2.63	5.09	4.18	0.49190	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.048848	0.85682	D	0.000000	D	0.96269	0.8783	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97177	0.9848	10	0.87932	D	0	.	13.8604	0.63557	0.0:0.9253:0.0:0.0747	.	85	O60882	MMP20_HUMAN	R	85	ENSP00000260228:G85R	ENSP00000260228:G85R	G	-	1	0	MMP20	101992874	0.990000	0.36364	0.871000	0.34182	0.486000	0.33341	4.577000	0.60922	1.509000	0.48786	0.655000	0.94253	GGG		0.478	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			17	34	0	0	0	1	0	17	34				
SNX1	6642	broad.mit.edu	37	15	64424038	64424038	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64424038T>A	ENST00000559844.1	+	11	1182	c.1168T>A	c.(1168-1170)Ttc>Atc	p.F390I	SNX1_ENST00000261889.5_Missense_Mutation_p.F390I|SNX1_ENST00000559339.1_3'UTR|SNX1_ENST00000561026.1_Missense_Mutation_p.F325I|SNX1_ENST00000353874.4_Missense_Mutation_p.F390I|SNX1_ENST00000560829.1_Missense_Mutation_p.F172I			Q13596	SNX1_HUMAN	sorting nexin 1	390	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CAATGACTTCTTCCTCCTTGC	0.512																																						ENST00000353874.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1168-1170)Ttc>Atc		sorting nexin 1							128.0	120.0	123.0					15																	64424038		2203	4300	6503	SO:0001583	missense	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64424038T>A	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1168T>A	15.37:g.64424038T>A	ENSP00000453785:p.Phe390Ile					SNX1_ENST00000561026.1_Missense_Mutation_p.F325I|SNX1_ENST00000261889.5_Missense_Mutation_p.F390I|SNX1_ENST00000560829.1_Missense_Mutation_p.F172I|SNX1_ENST00000559339.1_3'UTR|SNX1_ENST00000559844.1_Missense_Mutation_p.F390I	p.F390I			Q13596	SNX1_HUMAN			11	1204	+			390			BAR.		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	c.1168T>A	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439671	0.63067	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.40756	1.02	5.2	5.2	0.72013	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	L	0.60455	1.87	0.80722	D	1	P;B;P;P;B;P;P	0.47677	0.771;0.418;0.624;0.624;0.365;0.899;0.89	P;B;B;B;B;P;P	0.55087	0.549;0.145;0.395;0.395;0.09;0.768;0.596	T	0.45716	-0.9242	10	0.32370	T	0.25	-33.7183	10.4157	0.44320	0.0:0.0786:0.0:0.9214	.	390;300;390;390;325;390;390	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	I	390;390;325	ENSP00000326668:F390I	ENSP00000261889:F325I	F	+	1	0	SNX1	62211091	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.142000	0.71750	2.174000	0.68829	0.459000	0.35465	TTC		0.512	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		31	52	0	0	0	1	0	31	52				
GABRD	2563	broad.mit.edu	37	1	1957156	1957156	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1957156G>A	ENST00000378585.4	+	4	532	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	150					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGCCCGACGGCGTGATCCTG	0.677																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(448-450)gGc>gAc		gamma-aminobutyric acid (GABA) A receptor, delta							53.0	52.0	52.0					1																	1957156		2203	4299	6502	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1957156G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.449G>A	1.37:g.1957156G>A	ENSP00000367848:p.Gly150Asp						p.G150D	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	532	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	150					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.449G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204863	0.95033	.	.	ENSG00000187730	ENST00000378585	D	0.97378	-4.36	4.4	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99474	1.0946	10	0.87932	D	0	-9.7281	16.5096	0.84281	0.0:0.0:1.0:0.0	.	150	O14764	GBRD_HUMAN	D	150	ENSP00000367848:G150D	ENSP00000367848:G150D	G	+	2	0	GABRD	1947016	1.000000	0.71417	0.340000	0.25575	0.974000	0.67602	9.364000	0.97136	2.444000	0.82710	0.561000	0.74099	GGC		0.677	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		21	22	0	0	0	1	0	21	22				
MCMDC2	157777	broad.mit.edu	37	8	67813479	67813479	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67813479C>A	ENST00000422365.2	+	13	1836	c.1665C>A	c.(1663-1665)agC>agA	p.S555R	MCMDC2_ENST00000313616.5_Missense_Mutation_p.S555R|MCMDC2_ENST00000396592.3_Missense_Mutation_p.S555R|MCMDC2_ENST00000541540.1_Missense_Mutation_p.S492R	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	555	MCM.				DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TAGAATTCAGCTTGGAAGCAG	0.353																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1663-1665)agC>agA		minichromosome maintenance domain containing 2							78.0	78.0	78.0					8																	67813479		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67813479C>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1665C>A	8.37:g.67813479C>A	ENSP00000413632:p.Ser555Arg					MCMDC2_ENST00000541540.1_Missense_Mutation_p.S492R|MCMDC2_ENST00000313616.5_Missense_Mutation_p.S555R|MCMDC2_ENST00000396592.3_Missense_Mutation_p.S555R	p.S555R	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			13	1836	+			555					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1665C>A	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618730	0.66787	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.25912	1.77;3.14;3.14;3.14	5.48	2.17	0.27698	.	0.083276	0.85682	D	0.000000	T	0.44201	0.1282	M	0.72894	2.215	0.46823	D	0.99921	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.33701	-0.9858	10	0.72032	D	0.01	-7.8955	7.2296	0.26034	0.0:0.6004:0.0:0.3996	.	492;555;555	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	R	555;555;555;492	ENSP00000379837:S555R;ENSP00000413632:S555R;ENSP00000317234:S555R;ENSP00000445629:S492R	ENSP00000317234:S555R	S	+	3	2	C8orf45	67976033	0.959000	0.32827	0.993000	0.49108	0.994000	0.84299	0.482000	0.22276	0.772000	0.33382	0.655000	0.94253	AGC		0.353	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		4	71	1	0	0.184627	1	0.186383	4	71				
PAPOLG	64895	broad.mit.edu	37	2	60995624	60995624	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60995624T>A	ENST00000238714.3	+	4	515	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	89					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CCTTCTGTTGTGGCTACTGTT	0.378																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(265-267)gTg>gAg		poly(A) polymerase gamma							104.0	107.0	106.0					2																	60995624		2203	4300	6503	SO:0001583	missense	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:60995624T>A	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.266T>A	2.37:g.60995624T>A	ENSP00000238714:p.Val89Glu						p.V89E	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		4	515	+	all_hematologic(2;0.0797)		89					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	c.266T>A	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788197	0.70337	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.98	4.8	0.61643	Poly(A) polymerase, central domain (1);	0.106354	0.64402	D	0.000005	T	0.54647	0.1871	L	0.44542	1.39	0.51233	D	0.999916	P	0.41041	0.736	P	0.44422	0.449	T	0.56932	-0.7897	9	0.72032	D	0.01	-24.504	11.3815	0.49761	0.1358:0.0:0.0:0.8642	.	89	Q9BWT3	PAPOG_HUMAN	E	89	.	ENSP00000238714:V89E	V	+	2	0	PAPOLG	60849128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.036000	0.57304	1.045000	0.40225	0.482000	0.46254	GTG		0.378	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		7	92	0	0	0	1	0	7	92				
GDPD4	220032	broad.mit.edu	37	11	76980946	76980946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76980946C>T	ENST00000376217.2	-	7	710	c.460G>A	c.(460-462)Gta>Ata	p.V154I	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.V154I			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	154					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTTGTGATTACATTACATTGC	0.328																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(460-462)Gta>Ata		glycerophosphodiester phosphodiesterase domain containing 4							147.0	126.0	133.0					11																	76980946		2199	4292	6491	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76980946C>T	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.460G>A	11.37:g.76980946C>T	ENSP00000365390:p.Val154Ile					GDPD4_ENST00000376217.2_Missense_Mutation_p.V154I	p.V154I	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			7	710	-			154					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.460G>A		.	.	.	.	.	.	.	.	.	.	C	0.018	-1.476695	0.01035	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.14391	2.51;2.53	3.72	-6.37	0.01963	.	0.850188	0.10261	N	0.696018	T	0.05960	0.0155	N	0.12182	0.205	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.41698	-0.9494	10	0.20046	T	0.44	0.0249	10.0483	0.42199	0.0:0.6596:0.1416:0.1988	.	154	Q6W3E5-2	.	I	154	ENSP00000365390:V154I;ENSP00000320815:V154I	ENSP00000320815:V154I	V	-	1	0	GDPD4	76658594	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	-1.039000	0.03550	-1.519000	0.01775	-0.482000	0.04802	GTA		0.328	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		13	18	0	0	0	1	0	13	18				
TRIM42	287015	broad.mit.edu	37	3	140407030	140407030	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140407030C>T	ENST00000286349.3	+	3	1697	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	502						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCAGGGGACTCCCTGCCCT	0.557																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1504-1506)gaC>gaT		tripartite motif containing 42							81.0	78.0	79.0					3																	140407030		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140407030C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1506C>T	3.37:g.140407030C>T							p.D502D	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1697	+			502					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1506C>T	CCDS3113.1																																																																																				0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		15	28	0	0	0	1	0	15	28				
NR2E1	7101	broad.mit.edu	37	6	108497746	108497746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108497746G>A	ENST00000368986.4	+	4	1007	c.299G>A	c.(298-300)cGc>cAc	p.R100H	NR2E1_ENST00000368983.3_Missense_Mutation_p.R137H|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	100					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCCACCATCCGCAAGCAAGTG	0.672																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(298-300)cGc>cAc		nuclear receptor subfamily 2, group E, member 1							31.0	32.0	32.0					6																	108497746		2203	4298	6501	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108497746G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.299G>A	6.37:g.108497746G>A	ENSP00000357982:p.Arg100His					NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.R137H	p.R100H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	4	1007	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	100					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.299G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	36	5.816012	0.96982	.	.	ENSG00000112333	ENST00000368986;ENST00000368983;ENST00000426403	D;D	0.92595	-3.06;-3.07	5.65	5.65	0.86999	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	1.923240	0.02365	N	0.077272	D	0.95443	0.8520	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85956	0.1467	10	0.38643	T	0.18	.	19.3218	0.94245	0.0:0.0:1.0:0.0	.	100	Q9Y466	NR2E1_HUMAN	H	100;137;18	ENSP00000357982:R100H;ENSP00000357979:R137H	ENSP00000357979:R137H	R	+	2	0	NR2E1	108604439	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.373000	0.97168	2.655000	0.90218	0.655000	0.94253	CGC		0.672	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			7	16	0	0	0	1	0	7	16				
CCDC146	57639	broad.mit.edu	37	7	76871012	76871012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76871012C>T	ENST00000285871.4	+	4	371	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	82										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACCCAGCACACAAGAGTCAGA	0.483																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(244-246)Caa>Taa		coiled-coil domain containing 146							81.0	75.0	77.0					7																	76871012		2203	4300	6503	SO:0001587	stop_gained	57639							g.chr7:76871012C>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.244C>T	7.37:g.76871012C>T	ENSP00000285871:p.Gln82*					CCDC146_ENST00000431197.1_5'UTR	p.Q82*	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			4	371	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	82					A8K8X6|Q9P223	Nonsense_Mutation	SNP	ENST00000285871.4	37	c.244C>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183715	0.78677	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	.	.	.	5.8	5.8	0.92144	.	0.062499	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-19.992	19.6667	0.95895	0.0:1.0:0.0:0.0	.	.	.	.	X	82	.	ENSP00000285871:Q82X	Q	+	1	0	AC007000.1	76708948	0.998000	0.40836	0.871000	0.34182	0.283000	0.27025	5.297000	0.65704	2.741000	0.93983	0.585000	0.79938	CAA		0.483	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		18	42	0	0	0	1	0	18	42				
LCT	3938	broad.mit.edu	37	2	136562398	136562398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136562398G>A	ENST00000264162.2	-	10	4413	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1468	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTTCAGGCCCGCTTCATTGAT	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4402-4404)gCg>gTg		lactase							92.0	92.0	92.0					2																	136562398		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136562398G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4403C>T	2.37:g.136562398G>A	ENSP00000264162:p.Ala1468Val						p.A1468V	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	10	4413	-			1468			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.4403C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668561	0.47677	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.57595	0.39	5.34	3.31	0.37934	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.295502	0.37761	N	0.001946	T	0.55097	0.1899	M	0.86097	2.795	0.26421	N	0.976093	P	0.40931	0.733	B	0.38880	0.284	T	0.56980	-0.7889	10	0.56958	D	0.05	-3.8712	10.5657	0.45171	0.07:0.0:0.6105:0.3195	.	1468	P09848	LPH_HUMAN	V	1468;900	ENSP00000264162:A1468V	ENSP00000264162:A1468V	A	-	2	0	LCT	136278868	0.965000	0.33210	0.055000	0.19348	0.701000	0.40568	2.012000	0.40932	1.224000	0.43551	0.585000	0.79938	GCG		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		19	37	0	0	0	1	0	19	37				
C3orf22	152065	broad.mit.edu	37	3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A	rs373190783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627																																						ENST00000318225.2																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7						c.(397-399)gCg>gTg		chromosome 3 open reading frame 22		G	VAL/ALA	0,4406		0,0,2203	55.0	53.0	54.0		398	-0.5	0.0	3		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf22	NM_152533.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	133/142	126268739	1,13005	2203	4300	6503	SO:0001583	missense	152065							g.chr3:126268739G>A		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.398C>T	3.37:g.126268739G>A	ENSP00000316644:p.Ala133Val						p.A133V	NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	4	776	-			133					B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	c.398C>T	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228530	0.39399	0.0	1.16E-4	ENSG00000180697	ENST00000318225	.	.	.	1.92	-0.536	0.11876	.	.	.	.	.	T	0.09818	0.0241	N	0.19112	0.55	0.09310	N	1	P	0.41188	0.741	B	0.25405	0.06	T	0.22730	-1.0208	8	0.02654	T	1	6.4871	4.5161	0.11935	0.4702:0.0:0.5298:0.0	.	133	Q8N5N4	CC022_HUMAN	V	133	.	ENSP00000316644:A133V	A	-	2	0	C3orf22	127751429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.292000	0.08332	-0.154000	0.11118	0.313000	0.20887	GCG		0.627	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		11	22	0	0	0	1	0	11	22				
NUP88	4927	broad.mit.edu	37	17	5322786	5322786	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5322786A>G	ENST00000573584.1	-	1	694	c.185T>C	c.(184-186)tTt>tCt	p.F62S	RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000405578.4_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	62					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCCGAGGCCAAAGACCACGTT	0.622																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(184-186)tTt>tCt		nucleoporin 88kDa							78.0	81.0	80.0					17																	5322786		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322786A>G	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.185T>C	17.37:g.5322786A>G	ENSP00000458954:p.Phe62Ser						p.F62S	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			1	694	-			62					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.185T>C	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390030	0.82902	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	5.19	0.71726	.	0.225081	0.45126	D	0.000396	T	0.50667	0.1629	L	0.44542	1.39	0.38231	D	0.941043	B;B	0.25048	0.094;0.117	B;B	0.34991	0.06;0.193	T	0.50127	-0.8864	9	0.21014	T	0.42	-6.6542	10.4606	0.44577	0.8369:0.1631:0.0:0.0	.	62;62	B7Z5I6;Q99567	.;NUP88_HUMAN	S	62	.	ENSP00000225696:F62S	F	-	2	0	NUP88	5263510	1.000000	0.71417	0.745000	0.31077	0.678000	0.39670	3.846000	0.55888	2.311000	0.77944	0.533000	0.62120	TTT		0.622	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		9	88	0	0	0	1	0	9	88				
NEURL4	84461	broad.mit.edu	37	17	7224947	7224947	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224947T>G	ENST00000399464.2	-	18	3046	c.3031A>C	c.(3031-3033)Agc>Cgc	p.S1011R	NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1009R|NEURL4_ENST00000570460.1_Missense_Mutation_p.S987R	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1011	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTTCACAGCTGGATACCATC	0.652																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3031-3033)Agc>Cgc		neuralized E3 ubiquitin protein ligase 4							70.0	79.0	76.0					17																	7224947		2084	4217	6301	SO:0001583	missense	84461							g.chr17:7224947T>G		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3031A>C	17.37:g.7224947T>G	ENSP00000382390:p.Ser1011Arg					NEURL4_ENST00000315614.7_Missense_Mutation_p.S1009R|NEURL4_ENST00000570460.1_Missense_Mutation_p.S987R	p.S1011R	NM_032442.2	NP_115818.2					18	3046	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.3031A>C	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606646	0.66558	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.30714	1.52;1.52	5.0	3.93	0.45458	NEUZ (2);	0.154615	0.56097	D	0.000023	T	0.18173	0.0436	N	0.19112	0.55	0.38920	D	0.957728	B;B	0.29716	0.255;0.01	B;B	0.32393	0.145;0.007	T	0.10268	-1.0637	10	0.72032	D	0.01	-11.6484	4.8097	0.13337	0.0:0.2384:0.0:0.7616	.	1009;1011	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	R	1009;1011	ENSP00000319826:S1009R;ENSP00000382390:S1011R	ENSP00000319826:S1009R	S	-	1	0	NEURL4	7165671	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.560000	0.60802	2.225000	0.72522	0.533000	0.62120	AGC		0.652	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		6	62	0	0	0	1	0	6	62				
TMEM38B	55151	broad.mit.edu	37	9	108536258	108536258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108536258G>T	ENST00000374692.3	+	6	890	c.773G>T	c.(772-774)aGt>aTt	p.S258I	TMEM38B_ENST00000374688.1_Missense_Mutation_p.S204I	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	258						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAGAAGAAAAGTGAAGCAAAG	0.413																																						ENST00000374688.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(610-612)aGt>aTt		transmembrane protein 38B							106.0	102.0	103.0					9																	108536258		2203	4300	6503	SO:0001583	missense	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108536258G>T	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.773G>T	9.37:g.108536258G>T	ENSP00000363824:p.Ser258Ile					TMEM38B_ENST00000374692.3_Missense_Mutation_p.S258I	p.S204I			Q9NVV0	TM38B_HUMAN			6	1321	+			258					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	c.611G>T	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840789	0.16891	.	.	ENSG00000095209	ENST00000374692;ENST00000374688	T;T	0.46063	0.88;0.88	4.58	-1.26	0.09376	.	1.138170	0.06186	N	0.680351	T	0.26448	0.0646	L	0.27053	0.805	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.23154	-1.0196	10	0.39692	T	0.17	-0.1548	4.2639	0.10754	0.3614:0.3476:0.291:0.0	.	258	Q9NVV0	TM38B_HUMAN	I	258;204	ENSP00000363824:S258I;ENSP00000363820:S204I	ENSP00000363820:S204I	S	+	2	0	TMEM38B	107576079	0.798000	0.28890	0.563000	0.28383	0.354000	0.29330	-0.120000	0.10660	-0.109000	0.12044	0.585000	0.79938	AGT		0.413	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		27	65	1	0	0.000117367	1	0.000129652	27	65				
PWP1	11137	broad.mit.edu	37	12	108102935	108102935	+	Missense_Mutation	SNP	G	G	A	rs562596811		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102935G>A	ENST00000412830.3	+	13	1384	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	PWP1_ENST00000541166.1_Missense_Mutation_p.A344T	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	406					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GACTGCTTCAGCTGACAAATA	0.403													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21099	0.0		0.0	False		,,,				2504	0.0					ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(1216-1218)Gct>Act		PWP1 homolog (S. cerevisiae)							136.0	131.0	133.0					12																	108102935		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108102935G>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1216G>A	12.37:g.108102935G>A	ENSP00000387365:p.Ala406Thr					PWP1_ENST00000541166.1_Missense_Mutation_p.A344T	p.A406T	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			13	1384	+			406					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.1216G>A	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177367	0.78564	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000541166	T;T	0.61510	0.1;0.1	5.67	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.101889	0.64402	D	0.000003	T	0.47210	0.1433	N	0.21240	0.645	0.47511	D	0.999445	B	0.21452	0.056	B	0.36092	0.217	T	0.29912	-0.9996	10	0.06625	T	0.88	.	16.9995	0.86378	0.0:0.0:0.864:0.136	.	406	Q13610	PWP1_HUMAN	T	406;406;344	ENSP00000387365:A406T;ENSP00000445249:A344T	ENSP00000258531:A406T	A	+	1	0	PWP1	106627065	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	6.179000	0.71974	2.649000	0.89929	0.655000	0.94253	GCT		0.403	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		12	112	0	0	0	1	0	12	112				
ZNF286B	729288	broad.mit.edu	37	17	18566190	18566190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18566190C>T	ENST00000545289.1	-	5	879	c.629G>A	c.(628-630)aGa>aAa	p.R210K	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						TTTGGGAACTCTGTCTTCAGT	0.353																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(628-630)aGa>aAa		zinc finger protein 286B							10.0	11.0	11.0					17																	18566190		679	1574	2253	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566190C>T		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.629G>A	17.37:g.18566190C>T	ENSP00000461413:p.Arg210Lys						p.R210K	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	879	-			210						Missense_Mutation	SNP	ENST00000545289.1	37	c.629G>A	CCDS58523.1																																																																																				0.353	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		5	51	0	0	0	1	0	5	51				
CASKIN2	57513	broad.mit.edu	37	17	73499250	73499250	+	Silent	SNP	G	G	A	rs373026763		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73499250G>A	ENST00000321617.3	-	18	2491	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CASKIN2_ENST00000433559.2_Silent_p.G553G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	635						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGCGCCCGCCTTCGCTGA	0.692																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1903-1905)ggC>ggT		CASK interacting protein 2		G	,	1,4263		0,1,2131	9.0	9.0	9.0		1659,1905	-5.7	0.6	17		9	1,8383		0,1,4191	no	coding-synonymous,coding-synonymous	CASKIN2	NM_001142643.1,NM_020753.3	,	0,2,6322	AA,AG,GG		0.0119,0.0235,0.0158	,	553/1121,635/1203	73499250	2,12646	2132	4192	6324	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73499250G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1905C>T	17.37:g.73499250G>A						CASKIN2_ENST00000433559.2_Silent_p.G553G	p.G635G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2491	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		635					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.1905C>T	CCDS11723.1																																																																																				0.692	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		4	7	0	0	0	1	0	4	7				
IL17RA	23765	broad.mit.edu	37	22	17589306	17589306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17589306C>T	ENST00000319363.6	+	13	1330	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	399	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGAAATTCGCCCAGTTCCTGC	0.642																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1195-1197)gcC>gcT		interleukin 17 receptor A							68.0	63.0	64.0					22																	17589306		2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589306C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1197C>T	22.37:g.17589306C>T							p.A399A	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1330	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	399			SEFIR.		O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.1197C>T	CCDS13739.1																																																																																				0.642	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		17	30	0	0	0	1	0	17	30				
DNM1L	10059	broad.mit.edu	37	12	32854484	32854484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32854484G>T	ENST00000549701.1	+	2	312	c.238G>T	c.(238-240)Gga>Tga	p.G80*	DNM1L_ENST00000358214.5_Nonsense_Mutation_p.G80*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.G80*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.G80*|DNM1L_ENST00000414834.2_Missense_Mutation_p.Q11H|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.G80*|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.G80*			O00429	DNM1L_HUMAN	dynamin 1-like	80	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAACAACAGGAGAAGAAAA	0.363																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(238-240)Gga>Tga		dynamin 1-like							73.0	77.0	75.0					12																	32854484		2203	4300	6503	SO:0001587	stop_gained	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32854484G>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.238G>T	12.37:g.32854484G>T	ENSP00000450399:p.Gly80*					DNM1L_ENST00000414834.2_Missense_Mutation_p.Q11H|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.G80*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.G80*|DNM1L_ENST00000549701.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.G80*	p.G80*	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			2	402	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		80			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Nonsense_Mutation	SNP	ENST00000549701.1	37	c.238G>T	CCDS8729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	38|38	6.852353|6.852353	0.97885|0.97885	.|.	.|.	ENSG00000087470|ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000550154;ENST00000547312;ENST00000381000;ENST00000548750|ENST00000414834	.|T	.|0.79653	.|-1.29	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.228586|.	0.44902|.	D|.	0.000415|.	.|T	.|0.78616	.|0.4311	.|.	.|.	.|.	0.28748|0.28748	N|N	0.901567|0.901567	.|B	.|0.20164	.|0.042	.|B	.|0.19391	.|0.025	.|T	.|0.72350	.|-0.4320	.|8	0.15499|0.87932	T|D	0.54|0	.|.	19.5648|19.5648	0.95389|0.95389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|11	.|B4DGC9	.|.	X|H	80;133;80;80;80;80;80;80;80;80;80|11	.|ENSP00000404160:Q11H	ENSP00000266479:G80X|ENSP00000404160:Q11H	G|Q	+|+	1|3	0|2	DNM1L|DNM1L	32745751|32745751	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	4.753000|4.753000	0.62183|0.62183	2.601000|2.601000	0.87937|0.87937	0.639000|0.639000	0.83563|0.83563	GGA|CAG		0.363	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		15	45	1	0	3.32936e-07	1	3.90007e-07	15	45				
TFG	10342	broad.mit.edu	37	3	100447624	100447624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100447624C>T	ENST00000240851.4	+	4	677	c.337C>T	c.(337-339)Cga>Tga	p.R113*	TFG_ENST00000418917.2_Nonsense_Mutation_p.R113*|TFG_ENST00000476228.1_Nonsense_Mutation_p.R113*|TFG_ENST00000490574.1_Nonsense_Mutation_p.R113*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	113					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GATAGAACTTCGAAATAAAGT	0.378			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(337-339)Cga>Tga		TRK-fused gene							86.0	89.0	88.0					3																	100447624		2203	4300	6503	SO:0001587	stop_gained	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447624C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.337C>T	3.37:g.100447624C>T	ENSP00000240851:p.Arg113*					TFG_ENST00000418917.2_Nonsense_Mutation_p.R113*|TFG_ENST00000476228.1_Nonsense_Mutation_p.R113*|TFG_ENST00000490574.1_Nonsense_Mutation_p.R113*	p.R113*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			4	677	+			113					D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	37	c.337C>T	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856115	0.91355	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.05	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7436	14.0592	0.64788	0.2758:0.7242:0.0:0.0	.	.	.	.	X	113	.	ENSP00000240851:R113X	R	+	1	2	TFG	101930314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.279000	0.33191	0.573000	0.29400	0.655000	0.94253	CGA		0.378	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		45	54	0	0	0	1	0	45	54				
CD40LG	959	broad.mit.edu	37	X	135741287	135741287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135741287G>T	ENST00000370629.2	+	5	555	c.499G>T	c.(499-501)Gga>Tga	p.G167*	CD40LG_ENST00000370628.2_Nonsense_Mutation_p.G146*	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	167					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TAAAAGACAAGGACTCTATTA	0.458									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	GRCh37	CM054161	CD40LG	M		c.(499-501)Gga>Tga		CD40 ligand	Atorvastatin(DB01076)						233.0	236.0	235.0					X																	135741287		2203	4300	6503	SO:0001587	stop_gained	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741287G>T	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.499G>T	X.37:g.135741287G>T	ENSP00000359663:p.Gly167*					CD40LG_ENST00000370628.2_Nonsense_Mutation_p.G146*	p.G167*	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	555	+	Acute lymphoblastic leukemia(192;0.000127)		167						Nonsense_Mutation	SNP	ENST00000370629.2	37	c.499G>T	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441101	0.96187	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1252	18.1588	0.89702	0.0:0.0:1.0:0.0	.	.	.	.	X	167;146	.	ENSP00000359662:G146X	G	+	1	0	CD40LG	135568953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.749000	0.74883	2.331000	0.79229	0.600000	0.82982	GGA		0.458	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		156	239	1	0	7.32068e-81	1	9.91428e-81	156	239				
SDK2	54549	broad.mit.edu	37	17	71415339	71415339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71415339G>A	ENST00000392650.3	-	16	2152	c.2152C>T	c.(2152-2154)Cac>Tac	p.H718Y	SDK2_ENST00000388726.3_Missense_Mutation_p.H718Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	718	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCATTCTGGTGGCTCTCAGGA	0.622																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(2152-2154)Cac>Tac		sidekick cell adhesion molecule 2							58.0	49.0	52.0					17																	71415339		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71415339G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2152C>T	17.37:g.71415339G>A	ENSP00000376421:p.His718Tyr					SDK2_ENST00000388726.3_Missense_Mutation_p.H718Y	p.H718Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			16	2152	-			718			Fibronectin type-III 2.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2152C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436875	0.62955	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.57273	0.41;0.41	4.87	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.42744	1.35	0.80722	D	1	P;P	0.38395	0.575;0.629	B;B	0.39465	0.198;0.3	T	0.40440	-0.9563	10	0.05959	T	0.93	.	18.0116	0.89225	0.0:0.0:1.0:0.0	.	718;718	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	Y	342;718;718;718	ENSP00000376421:H718Y;ENSP00000373378:H718Y	ENSP00000324967:H718Y	H	-	1	0	SDK2	68926934	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.280000	0.72626	2.266000	0.75297	0.462000	0.41574	CAC		0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	9	0	0	0	1	0	8	9				
LRP1	4035	broad.mit.edu	37	12	57577599	57577599	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57577599A>G	ENST00000243077.3	+	36	6302	c.5836A>G	c.(5836-5838)Atc>Gtc	p.I1946V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1946					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGAGCACGATCAGCCGGGC	0.602																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5836-5838)Atc>Gtc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						87.0	77.0	81.0					12																	57577599		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57577599A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5836A>G	12.37:g.57577599A>G	ENSP00000243077:p.Ile1946Val						p.I1946V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	36	6302	+			1946					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.5836A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961250	0.74016	.	.	ENSG00000123384	ENST00000243077	D	0.92048	-2.96	4.94	4.94	0.65067	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.96540	0.8871	M	0.93462	3.42	0.80722	D	1	P	0.43314	0.803	P	0.58873	0.847	D	0.96861	0.9632	10	0.51188	T	0.08	.	13.7138	0.62685	1.0:0.0:0.0:0.0	.	1946	Q07954	LRP1_HUMAN	V	1946	ENSP00000243077:I1946V	ENSP00000243077:I1946V	I	+	1	0	LRP1	55863866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.086000	0.62901	0.459000	0.35465	ATC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		11	36	0	0	0	1	0	11	36				
INSR	3643	broad.mit.edu	37	19	7267515	7267515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267515C>A	ENST00000302850.5	-	2	635	c.493G>T	c.(493-495)Gat>Tat	p.D165Y	INSR_ENST00000341500.5_Missense_Mutation_p.D165Y	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	165	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCCACGGAATCCAGGATACGG	0.537																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(493-495)Gat>Tat		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						149.0	123.0	132.0					19																	7267515		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267515C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.493G>T	19.37:g.7267515C>A	ENSP00000303830:p.Asp165Tyr					INSR_ENST00000302850.5_Missense_Mutation_p.D165Y	p.D165Y	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			2	532	-			165					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.493G>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283997	0.80803	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82803	-1.65;-1.65	5.1	5.1	0.69264	.	0.000000	0.46145	U	0.000304	D	0.82318	0.5011	M	0.72118	2.19	0.80722	D	1	P;P;P	0.40050	0.49;0.624;0.7	B;B;B	0.37198	0.123;0.243;0.175	D	0.85382	0.1120	10	0.72032	D	0.01	.	16.0231	0.80512	0.0:1.0:0.0:0.0	.	156;165;165	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	Y	165	ENSP00000303830:D165Y;ENSP00000342838:D165Y	ENSP00000303830:D165Y	D	-	1	0	INSR	7218515	1.000000	0.71417	0.997000	0.53966	0.851000	0.48451	7.223000	0.78033	2.363000	0.80096	0.563000	0.77884	GAT		0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			7	51	1	0	1.26484e-09	1	1.54084e-09	7	51				
TRPM1	4308	broad.mit.edu	37	15	31369161	31369161	+	Silent	SNP	G	G	T	rs180878088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31369161G>T	ENST00000256552.6	-	3	177	c.30C>A	c.(28-30)acC>acA	p.T10T	TRPM1_ENST00000542188.1_Silent_p.T27T|TRPM1_ENST00000397795.2_5'UTR|TRPM1_ENST00000559179.1_5'UTR	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTTGCAAAAGGTTTTCTCTA	0.388																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(79-81)acC>acA		transient receptor potential cation channel, subfamily M, member 1							130.0	126.0	127.0					15																	31369161		1835	4088	5923	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31369161G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.30C>A	15.37:g.31369161G>T						TRPM1_ENST00000559179.1_5'UTR|TRPM1_ENST00000256552.6_Silent_p.T10T|TRPM1_ENST00000397795.2_5'UTR	p.T27T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	2	394	-		all_lung(180;1.92e-11)	0						Silent	SNP	ENST00000256552.6	37	c.81C>A	CCDS58346.1																																																																																				0.388	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		4	66	1	0	2.56e-06	1	2.9446e-06	4	66				
DSCAML1	57453	broad.mit.edu	37	11	117329587	117329587	+	Missense_Mutation	SNP	G	G	A	rs572720930		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117329587G>A	ENST00000321322.6	-	19	3632	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R941W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1151	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCTCCACCCGCTCCCGCGTG	0.637																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3631-3633)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							112.0	100.0	104.0					11																	117329587		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117329587G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3631C>T	11.37:g.117329587G>A	ENSP00000315465:p.Arg1211Trp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R941W	p.R1211W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	19	3632	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1151			Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3631C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161451	0.78226	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58940	0.3;0.3	4.68	3.77	0.43336	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53465	0.1798	N	0.12746	0.255	0.48632	D	0.999682	D	0.67145	0.996	P	0.58970	0.849	T	0.56505	-0.7968	9	0.40728	T	0.16	.	13.6072	0.62054	0.0:0.0:0.7199:0.2801	.	1151	Q8TD84	DSCL1_HUMAN	W	941;1211;918	ENSP00000434335:R941W;ENSP00000315465:R1211W	ENSP00000315465:R1211W	R	-	1	2	DSCAML1	116834797	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.789000	0.55454	1.200000	0.43188	0.655000	0.94253	CGG		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		19	44	0	0	0	1	0	19	44				
TLR9	54106	broad.mit.edu	37	3	52256729	52256729	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52256729G>T	ENST00000360658.2	-	2	2236	c.1603C>A	c.(1603-1605)Ctc>Atc	p.L535I	TLR9_ENST00000494383.1_Missense_Mutation_p.P688H|TLR9_ENST00000597542.1_Missense_Mutation_p.L559I	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	535					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TCGTGGTAGAGGTCCAGCTTA	0.612																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1675-1677)Ctc>Atc		toll-like receptor 9	Chloroquine(DB00608)						57.0	55.0	56.0					3																	52256729		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256729G>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1603C>A	3.37:g.52256729G>T	ENSP00000353874:p.Leu535Ile					TLR9_ENST00000494383.1_Missense_Mutation_p.P688H|TLR9_ENST00000360658.2_Missense_Mutation_p.L535I	p.L559I			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	2632	-			535					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1675C>A	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.471274|2.471274	0.43942|0.43942	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.57595|.	0.39|.	5.53|5.53	2.82|2.82	0.32997|0.32997	.|.	0.000000|.	0.32901|.	N|.	0.005509|.	T|T	0.45994|0.45994	0.1370|0.1370	L|L	0.45352|0.45352	1.415|1.415	0.35595|0.35595	D|D	0.807367|0.807367	D;D|.	0.89917|.	1.0;0.991|.	D;P|.	0.72075|.	0.976;0.744|.	T|T	0.51004|0.51004	-0.8760|-0.8760	10|5	0.72032|.	D|.	0.01|.	.|.	4.6106|4.6106	0.12401|0.12401	0.2588:0.0:0.5762:0.165|0.2588:0.0:0.5762:0.165	.|.	632;535|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	I|H	535|688	ENSP00000353874:L535I|.	ENSP00000353874:L535I|.	L|P	-|-	1|2	0|0	TLR9|RP11-330H6.5	52231769|52231769	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.303000|0.303000	0.27691|0.27691	0.347000|0.347000	0.20014|0.20014	0.960000|0.960000	0.38005|0.38005	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.612	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			5	50	1	0	0.014758	1	0.0152625	5	50				
RNF144A	9781	broad.mit.edu	37	2	7170284	7170284	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7170284A>G	ENST00000320892.6	+	8	1127	c.685A>G	c.(685-687)Aag>Gag	p.K229E	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	229					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ACACTACGATAAGGGACCCTG	0.542																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(685-687)Aag>Gag		ring finger protein 144A							139.0	115.0	123.0					2																	7170284		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7170284A>G	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.685A>G	2.37:g.7170284A>G	ENSP00000321330:p.Lys229Glu					RNF144A_ENST00000467276.1_3'UTR	p.K229E	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	8	1127	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	229					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.685A>G	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.215141|4.215141	0.79352|0.79352	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000432850|ENST00000320892	.|T	.|0.22743	.|1.94	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Zinc finger, C6HC-type (1);Zinc finger, RING-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30634|0.30634	0.0771|0.0771	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.51147	.|0.942	.|P	.|0.54210	.|0.745	T|T	0.04991|0.04991	-1.0913|-1.0913	5|10	.|0.09590	.|T	.|0.72	.|.	14.9894|14.9894	0.71374|0.71374	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|229	.|P50876	.|R144A_HUMAN	M|E	224|229	.|ENSP00000321330:K229E	.|ENSP00000321330:K229E	I|K	+|+	3|1	3|0	RNF144A|RNF144A	7087735|7087735	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.890000|0.890000	0.51754|0.51754	7.201000|7.201000	0.77847|0.77847	2.006000|2.006000	0.58801|0.58801	0.374000|0.374000	0.22700|0.22700	ATA|AAG		0.542	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		28	40	0	0	0	1	0	28	40				
MTMR11	10903	broad.mit.edu	37	1	149905806	149905806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149905806C>T	ENST00000439741.2	-	8	963	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.R210Q|MTMR11_ENST00000369140.3_Missense_Mutation_p.R166Q|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	238	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.R238Q(2)|p.R166Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCCAGAATTCGGTTAGGGAC	0.483																																						ENST00000439741.2																			4	Substitution - Missense(4)	p.R238Q(2)|p.R166Q(2)	large_intestine(2)|prostate(2)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(712-714)cGa>cAa		myotubularin related protein 11							144.0	132.0	136.0					1																	149905806		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149905806C>T	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.713G>A	1.37:g.149905806C>T	ENSP00000391668:p.Arg238Gln					MTMR11_ENST00000406732.3_Missense_Mutation_p.R210Q|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.R166Q|MTMR11_ENST00000361405.6_Intron	p.R238Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		8	963	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		238			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.713G>A	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344373	0.61073	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.92495	-3.05;-2.58;-3.05	5.29	4.38	0.52667	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.165377	0.39475	N	0.001344	D	0.88890	0.6560	N	0.24115	0.695	0.41734	D	0.989573	B;B;D;D	0.76494	0.068;0.116;0.998;0.999	B;B;D;D	0.75484	0.012;0.012;0.963;0.986	D	0.89949	0.4078	10	0.56958	D	0.05	.	7.7547	0.28917	0.0:0.818:0.0:0.182	.	80;210;166;238	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	Q	166;238;210;80	ENSP00000358136:R166Q;ENSP00000391668:R238Q;ENSP00000383948:R210Q	ENSP00000358136:R166Q	R	-	2	0	MTMR11	148172430	0.935000	0.31712	0.830000	0.32933	0.924000	0.55760	1.221000	0.32503	1.472000	0.48140	0.655000	0.94253	CGA		0.483	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		44	95	0	0	0	1	0	44	95				
UROC1	131669	broad.mit.edu	37	3	126224682	126224682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126224682G>A	ENST00000290868.2	-	8	728	c.675C>T	c.(673-675)acC>acT	p.T225T	UROC1_ENST00000383579.3_Silent_p.T225T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	225					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CATTCAACACGGTGAGCTGCA	0.662																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(673-675)acC>acT		urocanate hydratase 1							50.0	42.0	45.0					3																	126224682		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126224682G>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.675C>T	3.37:g.126224682G>A						UROC1_ENST00000383579.3_Silent_p.T225T	p.T225T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	8	728	-			225					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.675C>T	CCDS3038.1																																																																																				0.662	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		7	17	0	0	0	1	0	7	17				
OVCH1	341350	broad.mit.edu	37	12	29604283	29604283	+	Missense_Mutation	SNP	G	G	A	rs189537184		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29604283G>A	ENST00000318184.5	-	22	2749	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	917	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATTACCTGCCGTCTTTCTCTT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		14288	0.0		0.001	False		,,,				2504	0.0					ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(2749-2751)aCg>aTg		ovochymase 1							45.0	44.0	44.0					12																	29604283		1881	4111	5992	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29604283G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2750C>T	12.37:g.29604283G>A	ENSP00000326708:p.Thr917Met					OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.T917M	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			22	2749	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		917			CUB 3.			Missense_Mutation	SNP	ENST00000318184.5	37	c.2750C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.209	-0.381101	0.05000	.	.	ENSG00000187950	ENST00000318184	T	0.34859	1.34	2.64	0.234	0.15390	CUB (5);	.	.	.	.	T	0.12860	0.0312	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25012	-1.0144	9	0.30078	T	0.28	.	4.7125	0.12879	0.7016:0.0:0.2984:0.0	.	917	Q7RTY7	OVCH1_HUMAN	M	917	ENSP00000326708:T917M	ENSP00000326708:T917M	T	-	2	0	OVCH1	29495550	0.001000	0.12720	0.000000	0.03702	0.061000	0.15899	1.012000	0.29924	0.034000	0.15491	-0.611000	0.04053	ACG		0.413	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		8	20	0	0	0	1	0	8	20				
SLCO4A1	28231	broad.mit.edu	37	20	61299185	61299185	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61299185T>G	ENST00000370507.1	+	7	1657	c.1561T>G	c.(1561-1563)Tcg>Gcg	p.S521A	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.S521A			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	521	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGTGTGCGGCTCGGACGGCCT	0.657																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1561-1563)Tcg>Gcg		solute carrier organic anion transporter family, member 4A1							71.0	68.0	69.0					20																	61299185		2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61299185T>G	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1561T>G	20.37:g.61299185T>G	ENSP00000359538:p.Ser521Ala					SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.S521A	p.S521A	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		8	1766	+	Breast(26;3.65e-08)		521			Kazal-like.		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.1561T>G	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	T	0.572	-0.840539	0.02692	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.05382	3.45;3.45	4.93	0.934	0.19477	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.486350	0.21183	N	0.078799	T	0.03263	0.0095	L	0.31120	0.905	0.09310	N	1	B	0.13594	0.008	B	0.21360	0.034	T	0.44065	-0.9352	10	0.07482	T	0.82	.	1.5395	0.02552	0.2519:0.0812:0.2159:0.451	.	521	Q96BD0	SO4A1_HUMAN	A	521;521;521;373	ENSP00000217159:S521A;ENSP00000359538:S521A	ENSP00000217159:S521A	S	+	1	0	SLCO4A1	60769630	0.000000	0.05858	0.821000	0.32701	0.032000	0.12392	0.085000	0.14912	0.182000	0.20032	0.460000	0.39030	TCG		0.657	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		25	41	0	0	0	1	0	25	41				
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> E (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.|D -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		1	Substitution - Missense(1)	p.D1709N(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5125-5127)Gat>Aat		dicer 1, ribonuclease type III							69.0	73.0	72.0					14																	95560464		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560464C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5125G>A	14.37:g.95560464C>T	ENSP00000437256:p.Asp1709Asn					DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N	p.D1709N			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5416	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1709			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5125G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678665	0.96764	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.43	5.43	0.79202	Ribonuclease III (6);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.995	D	0.99785	1.1029	10	0.87932	D	0	-27.7505	19.2735	0.94021	0.0:1.0:0.0:0.0	.	607;1709	B3KRG4;Q9UPY3	.;DICER_HUMAN	N	1709;1709;1709;1709;607;1709	ENSP00000343745:D1709N;ENSP00000437256:D1709N;ENSP00000376783:D1709N;ENSP00000435681:D1709N;ENSP00000451041:D607N;ENSP00000444719:D1709N	ENSP00000343745:D1709N	D	-	1	0	DICER1	94630217	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.421000	0.80204	2.549000	0.85964	0.655000	0.94253	GAT		0.527	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			20	34	0	0	0	1	0	20	34				
ZKSCAN7	55888	broad.mit.edu	37	3	44611871	44611871	+	Silent	SNP	C	C	A	rs375012407		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44611871C>A	ENST00000273320.3	+	6	1698	c.1269C>A	c.(1267-1269)acC>acA	p.T423T	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.T423T|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	423					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCAGGCAAACCTCCCAGCTCA	0.478																																						ENST00000273320.3																			0											c.(1267-1269)acC>acA		zinc finger with KRAB and SCAN domains 7							40.0	42.0	41.0					3																	44611871		2203	4298	6501	SO:0001819	synonymous_variant	55888							g.chr3:44611871C>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1269C>A	3.37:g.44611871C>A						ZKSCAN7_ENST00000426540.1_Silent_p.T423T|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	p.T423T	NM_018651.2	NP_061121.2					6	1698	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.1269C>A	CCDS2715.1																																																																																				0.478	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		12	26	1	0	7.03913e-09	1	8.47891e-09	12	26				
PARP15	165631	broad.mit.edu	37	3	122351054	122351054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122351054C>T	ENST00000464300.2	+	10	1626	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y	PARP15_ENST00000493645.1_Silent_p.Y217Y|PARP15_ENST00000483793.1_Silent_p.Y325Y|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Silent_p.Y286Y	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	520	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTTCTTCCTACGCAATAGAGA	0.358																																						ENST00000483793.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.(973-975)taC>taT		poly (ADP-ribose) polymerase family, member 15							67.0	65.0	66.0					3																	122351054		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122351054C>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1560C>T	3.37:g.122351054C>T						PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Silent_p.Y286Y|PARP15_ENST00000464300.2_Silent_p.Y520Y|PARP15_ENST00000493645.1_Silent_p.Y217Y	p.Y325Y			Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	7	1015	+			498			Macro 2.		J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.975C>T	CCDS46893.1																																																																																				0.358	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		15	16	0	0	0	1	0	15	16				
ZNF44	51710	broad.mit.edu	37	19	12383465	12383465	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383465C>T	ENST00000356109.5	-	5	1867	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	ZNF44_ENST00000355684.5_Silent_p.K535K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCCTGCATTGCTTACATTCAT	0.408																																						ENST00000356109.5																			0				ovary(1)	1						c.(1747-1749)aaG>aaA		zinc finger protein 44							50.0	54.0	53.0					19																	12383465		2185	4299	6484	SO:0001819	synonymous_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383465C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1749G>A	19.37:g.12383465C>T						ZNF44_ENST00000355684.5_Silent_p.K535K	p.K583K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1867	-		Renal(1328;0.157)	583					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Silent	SNP	ENST00000356109.5	37	c.1749G>A	CCDS54223.1																																																																																				0.408	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		6	7	0	0	0	1	0	6	7				
ANKRD33	341405	broad.mit.edu	37	12	52283195	52283195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52283195T>C	ENST00000340970.4	+	4	532	c.161T>C	c.(160-162)gTg>gCg	p.V54A	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.V189A			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	54					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACTACTATGTGGGCCTGGAC	0.627																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(565-567)gTg>gCg		ankyrin repeat domain 33							55.0	54.0	54.0					12																	52283195		2203	4300	6503	SO:0001583	missense	341405							g.chr12:52283195T>C		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.161T>C	12.37:g.52283195T>C	ENSP00000344690:p.Val54Ala					ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.V54A|ANKRD33_ENST00000538991.1_5'UTR	p.V189A	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	4	793	+			54					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.566T>C	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	T	6.930	0.541339	0.13250	.	.	ENSG00000167612	ENST00000301190;ENST00000340970	T;T	0.16196	2.36;2.72	4.68	2.85	0.33270	Ankyrin repeat-containing domain (4);	0.620601	0.16422	N	0.215132	T	0.06050	0.0157	N	0.03000	-0.44	0.35661	D	0.812514	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29150	-1.0021	10	0.09843	T	0.71	-13.7715	8.5924	0.33695	0.0:0.8157:0.0:0.1843	.	54;189	Q7Z3H0;Q7Z3H0-2	ANR33_HUMAN;.	A	189;54	ENSP00000301190:V189A;ENSP00000344690:V54A	ENSP00000301190:V189A	V	+	2	0	ANKRD33	50569462	0.038000	0.19896	0.001000	0.08648	0.272000	0.26649	3.218000	0.51192	0.709000	0.31976	-0.132000	0.14878	GTG		0.627	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		9	60	0	0	0	1	0	9	60				
ENC1	8507	broad.mit.edu	37	5	73931595	73931595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931595G>A	ENST00000302351.4	-	2	1846	c.716C>T	c.(715-717)gCa>gTa	p.A239V	ENC1_ENST00000537006.1_Missense_Mutation_p.A239V|ENC1_ENST00000510316.1_Missense_Mutation_p.A166V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	239					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGCAGAAGTGCCAGCCTTAC	0.488																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(715-717)gCa>gTa		ectodermal-neural cortex 1 (with BTB domain)							73.0	79.0	77.0					5																	73931595		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931595G>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.716C>T	5.37:g.73931595G>A	ENSP00000306356:p.Ala239Val					ENC1_ENST00000537006.1_Missense_Mutation_p.A239V|ENC1_ENST00000510316.1_Missense_Mutation_p.A166V	p.A239V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1846	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	239					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.716C>T	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765761	0.69878	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.69561	-0.41;-0.41;-0.41	5.8	5.8	0.92144	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.82768	-0.0294	10	0.87932	D	0	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	239	O14682	ENC1_HUMAN	V	239;166;239	ENSP00000306356:A239V;ENSP00000423804:A166V;ENSP00000446289:A239V	ENSP00000306356:A239V	A	-	2	0	ENC1	73967351	1.000000	0.71417	0.972000	0.41901	0.460000	0.32559	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	GCA		0.488	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		50	5	0	0	0	1	0	50	5				
CLMN	79789	broad.mit.edu	37	14	95670713	95670713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95670713C>T	ENST00000298912.4	-	9	1086	c.973G>A	c.(973-975)Gtc>Atc	p.V325I		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	325					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAACGAAGACTTTGCTCTCC	0.433																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(973-975)Gtc>Atc		calmin (calponin-like, transmembrane)							134.0	142.0	139.0					14																	95670713		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670713C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.973G>A	14.37:g.95670713C>T	ENSP00000298912:p.Val325Ile						p.V325I	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1086	-			325					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.973G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	3.652	-0.071419	0.07228	.	.	ENSG00000165959	ENST00000298912	D	0.92397	-3.03	5.64	-7.36	0.01417	.	1.073060	0.07347	N	0.881818	D	0.83940	0.5363	N	0.19112	0.55	0.49389	D	0.999788	B	0.13145	0.007	B	0.13407	0.009	T	0.58836	-0.7566	10	0.10377	T	0.69	.	19.1523	0.93493	0.0:0.1914:0.0:0.8086	.	325	Q96JQ2	CLMN_HUMAN	I	325	ENSP00000298912:V325I	ENSP00000298912:V325I	V	-	1	0	CLMN	94740466	0.017000	0.18338	0.000000	0.03702	0.847000	0.48162	-0.380000	0.07427	-1.541000	0.01727	-0.812000	0.03155	GTC		0.433	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			36	57	0	0	0	1	0	36	57				
RLTPR	146206	broad.mit.edu	37	16	67690161	67690161	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67690161C>A	ENST00000334583.6	+	34	4101	c.3773C>A	c.(3772-3774)cCt>cAt	p.P1258H	RLTPR_ENST00000545661.1_Missense_Mutation_p.P1222H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1258					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACGGAGGCCCCTCCCATCTCG	0.602																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3772-3774)cCt>cAt		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							142.0	141.0	141.0					16																	67690161		2032	4179	6211	SO:0001583	missense	146206							g.chr16:67690161C>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3773C>A	16.37:g.67690161C>A	ENSP00000334958:p.Pro1258His					RLTPR_ENST00000545661.1_Missense_Mutation_p.P1222H	p.P1258H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	34	4101	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1258					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.3773C>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831669	0.50845	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.52526	1.52;0.66	5.23	5.23	0.72850	.	0.125415	0.36893	N	0.002356	T	0.53417	0.1795	L	0.29908	0.895	0.38594	D	0.950498	D;D	0.76494	0.999;0.999	P;P	0.58013	0.831;0.831	T	0.59867	-0.7373	10	0.72032	D	0.01	-18.09	16.9494	0.86240	0.0:1.0:0.0:0.0	.	1222;1258	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	1258;355;1222	ENSP00000334958:P1258H;ENSP00000441481:P1222H	ENSP00000334958:P1258H	P	+	2	0	RLTPR	66247662	0.958000	0.32768	0.977000	0.42913	0.182000	0.23217	4.458000	0.60095	2.596000	0.87737	0.591000	0.81541	CCT		0.602	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		9	94	1	0	0.000442599	1	0.00048047	9	94				
RADIL	55698	broad.mit.edu	37	7	4855923	4855923	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4855923C>T	ENST00000399583.3	-	8	2089	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.S394S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	634	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGAGCATCTGCGAGGCCACCT	0.682																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1900-1902)tcG>tcA		Ras association and DIL domains							21.0	30.0	27.0					7																	4855923		2041	4186	6227	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4855923C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1902G>A	7.37:g.4855923C>T						RADIL_ENST00000538469.1_Silent_p.S394S|RADIL_ENST00000536091.1_3'UTR	p.S634S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	8	2089	-		Ovarian(82;0.0175)	634			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.1902G>A	CCDS43544.1																																																																																				0.682	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		10	3	0	0	0	1	0	10	3				
KIAA1522	57648	broad.mit.edu	37	1	33236827	33236827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33236827G>T	ENST00000373480.1	+	6	1973	c.1870G>T	c.(1870-1872)Gct>Tct	p.A624S	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.A683S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A635S	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	624	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCTAACCCAGCTGCCCCTGC	0.632																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2047-2049)Gct>Tct		KIAA1522							47.0	54.0	52.0					1																	33236827		1913	4122	6035	SO:0001583	missense	57648							g.chr1:33236827G>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1870G>T	1.37:g.33236827G>T	ENSP00000362579:p.Ala624Ser					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A635S|KIAA1522_ENST00000373480.1_Missense_Mutation_p.A624S	p.A683S	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2117	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	624			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.2047G>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	4.684	0.127237	0.08981	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.12255	2.7;2.71;2.7	3.78	2.83	0.33086	.	0.322715	0.22220	N	0.062976	T	0.06781	0.0173	N	0.22421	0.69	0.21386	N	0.999704	P;P;P	0.42908	0.793;0.793;0.793	B;B;B	0.40940	0.344;0.344;0.344	T	0.16837	-1.0389	10	0.06891	T	0.86	-8.2388	4.9013	0.13777	0.1813:0.2051:0.6135:0.0	.	635;624;683	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	S	683;635;624	ENSP00000383851:A683S;ENSP00000362580:A635S;ENSP00000362579:A624S	ENSP00000362579:A624S	A	+	1	0	KIAA1522	33009414	0.919000	0.31177	0.933000	0.37362	0.082000	0.17680	1.231000	0.32624	1.802000	0.52723	0.655000	0.94253	GCT		0.632	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			21	44	1	0	8.04996e-18	1	1.04647e-17	21	44				
HDX	139324	broad.mit.edu	37	X	83723698	83723698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83723698G>A	ENST00000297977.5	-	3	1144	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	HDX_ENST00000506585.2_Missense_Mutation_p.P287S|HDX_ENST00000373177.2_Missense_Mutation_p.P345S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	345						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTTCCTGGTCCGGGCAAG	0.428																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1033-1035)Cca>Tca		highly divergent homeobox							109.0	91.0	97.0					X																	83723698		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723698G>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1033C>T	X.37:g.83723698G>A	ENSP00000297977:p.Pro345Ser					HDX_ENST00000506585.2_Missense_Mutation_p.P287S|HDX_ENST00000373177.2_Missense_Mutation_p.P345S	p.P345S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	1144	-			345					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1033C>T	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092253	0.20471	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35973	1.35;1.28;1.35	5.53	4.66	0.58398	.	0.503936	0.21147	N	0.079400	T	0.34366	0.0895	L	0.59436	1.845	0.39319	D	0.965212	B	0.10296	0.003	B	0.04013	0.001	T	0.19976	-1.0289	10	0.66056	D	0.02	-30.2415	9.2256	0.37405	0.0768:0.0:0.7763:0.147	.	345	Q7Z353	HDX_HUMAN	S	345;287;345	ENSP00000297977:P345S;ENSP00000362272:P287S;ENSP00000423670:P345S	ENSP00000297977:P345S	P	-	1	0	HDX	83610354	1.000000	0.71417	0.965000	0.40720	0.539000	0.34962	2.267000	0.43329	1.082000	0.41137	0.422000	0.28245	CCA		0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		21	32	0	0	0	1	0	21	32				
AIFM1	9131	broad.mit.edu	37	X	129265659	129265659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129265659C>A	ENST00000287295.3	-	14	1794	c.1564G>T	c.(1564-1566)Gag>Tag	p.E522*	AIFM1_ENST00000346424.2_Nonsense_Mutation_p.E235*|AIFM1_ENST00000440263.1_Nonsense_Mutation_p.E170*|AIFM1_ENST00000319908.3_Nonsense_Mutation_p.E518*|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Nonsense_Mutation_p.E183*	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	522					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCTGACTGCTCTGTGGCAGAT	0.488																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1564-1566)Gag>Tag		apoptosis-inducing factor, mitochondrion-associated, 1							216.0	197.0	203.0					X																	129265659		2203	4300	6503	SO:0001587	stop_gained	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129265659C>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1564G>T	X.37:g.129265659C>A	ENSP00000287295:p.Glu522*					AIFM1_ENST00000440263.1_Nonsense_Mutation_p.E170*|AIFM1_ENST00000460436.2_Nonsense_Mutation_p.E183*|AIFM1_ENST00000319908.3_Nonsense_Mutation_p.E518*|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Nonsense_Mutation_p.E235*	p.E522*	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			14	1794	-			522					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Nonsense_Mutation	SNP	ENST00000287295.3	37	c.1564G>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	45	11.996659	0.99625	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-14.3987	17.5277	0.87805	0.0:1.0:0.0:0.0	.	.	.	.	X	183;235;518;170;522	.	ENSP00000287295:E522X	E	-	1	0	AIFM1	129093340	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.320000	0.79064	2.323000	0.78572	0.600000	0.82982	GAG		0.488	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			14	257	1	0	3.27435e-08	1	3.90559e-08	14	257				
PDGFRA	5156	broad.mit.edu	37	4	55161379	55161379	+	Silent	SNP	C	C	T	rs149498489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161379C>T	ENST00000257290.5	+	23	3541	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	FIP1L1_ENST00000507166.1_Silent_p.I830I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1070	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I1070I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTGAAGACATCGACATGATGG	0.547			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		1	Substitution - coding silent(1)	p.I1070I(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(3208-3210)atC>atT		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	C		2,4404	4.2+/-10.8	0,2,2201	166.0	147.0	154.0		3210	-0.0	1.0	4	dbSNP_134	154	0,8600		0,0,4300	no	coding-synonymous	PDGFRA	NM_006206.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1070/1090	55161379	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55161379C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3210C>T	4.37:g.55161379C>T		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Silent_p.I830I	p.I1070I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		23	3541	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1070			Ser-rich.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.3210C>T	CCDS3495.1																																																																																				0.547	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		29	56	0	0	0	1	0	29	56				
PRRC2C	23215	broad.mit.edu	37	1	171509913	171509913	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171509913A>G	ENST00000338920.4	+	16	3539	c.3302A>G	c.(3301-3303)cAg>cGg	p.Q1101R	PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q1103R|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1101R|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1103R	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1101					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAACCATCTCAGGATACTGAG	0.458																																						ENST00000367742.3																			0											c.(3307-3309)cAg>cGg		proline-rich coiled-coil 2C							57.0	61.0	60.0					1																	171509913		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509913A>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3302A>G	1.37:g.171509913A>G	ENSP00000343629:p.Gln1101Arg					PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1103R|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1101R|PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q1101R	p.Q1103R			Q9Y520	PRC2C_HUMAN			16	3550	+			1101					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.3308A>G	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	6.330	0.429057	0.11987	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01947	4.54;4.54;4.54;4.54	5.9	3.5	0.40072	.	0.000000	0.44902	D	0.000413	T	0.00724	0.0024	L	0.27053	0.805	0.18873	N	0.999982	B	0.33583	0.418	B	0.30855	0.121	T	0.49495	-0.8934	10	0.32370	T	0.25	.	13.4923	0.61402	0.6067:0.3933:0.0:0.0	.	1101	Q9Y520-4	.	R	1103;1102;1101;1103;1101;858	ENSP00000375928:Q1103R;ENSP00000410219:Q1101R;ENSP00000356716:Q1103R;ENSP00000343629:Q1101R	ENSP00000343629:Q1101R	Q	+	2	0	PRRC2C	169776537	0.450000	0.25697	0.912000	0.35992	0.926000	0.56050	0.274000	0.18680	0.439000	0.26476	0.528000	0.53228	CAG		0.458	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		3	48	0	0	0	1	0	3	48				
IL3	3562	broad.mit.edu	37	5	131398222	131398222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131398222C>A	ENST00000296870.2	+	4	476	c.298C>A	c.(298-300)Ctc>Atc	p.L100I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	100					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TCCACAGAATCTCCTGCCATG	0.607																																						ENST00000296870.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10						c.(298-300)Ctc>Atc		interleukin 3 (colony-stimulating factor, multiple)	Amlexanox(DB01025)						177.0	175.0	176.0					5																	131398222		2203	4300	6503	SO:0001583	missense	3562				cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	g.chr5:131398222C>A	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.298C>A	5.37:g.131398222C>A	ENSP00000296870:p.Leu100Ile						p.L100I	NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	4	476	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	100					Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	c.298C>A	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875116	0.51695	.	.	ENSG00000164399	ENST00000296870	T	0.47869	0.83	4.38	-0.0119	0.13991	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.775046	0.11431	N	0.564828	T	0.56470	0.1987	L	0.53249	1.67	0.09310	N	1	P	0.41131	0.739	P	0.61658	0.892	T	0.49652	-0.8917	10	0.51188	T	0.08	-3.7719	4.989	0.14205	0.2031:0.6065:0.0:0.1904	.	100	P08700	IL3_HUMAN	I	100	ENSP00000296870:L100I	ENSP00000296870:L100I	L	+	1	0	IL3	131426121	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	0.177000	0.16801	-0.006000	0.14370	0.655000	0.94253	CTC		0.607	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		7	209	1	0	0.0293803	1	0.0301098	7	209				
LRRC4C	57689	broad.mit.edu	37	11	40135961	40135961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40135961G>A	ENST00000278198.2	-	2	3845	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R628*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	628					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTTCATTCGGATCAATAAC	0.303																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1882-1884)Cga>Tga		leucine rich repeat containing 4C							130.0	120.0	123.0					11																	40135961		2203	4300	6503	SO:0001587	stop_gained	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40135961G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1882C>T	11.37:g.40135961G>A	ENSP00000278198:p.Arg628*					LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R628*	p.R628*			Q9HCJ2	LRC4C_HUMAN			2	3845	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	628					A8K0T1|Q7L0N3	Nonsense_Mutation	SNP	ENST00000278198.2	37	c.1882C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	42	9.310499	0.99133	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	.	.	.	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.7224	0.96148	0.0:0.0:1.0:0.0	.	.	.	.	X	628	.	ENSP00000278198:R628X	R	-	1	2	LRRC4C	40092537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.906000	0.99361	0.655000	0.94253	CGA		0.303	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		26	55	0	0	0	1	0	26	55				
CCNH	902	broad.mit.edu	37	5	86690887	86690887	+	Missense_Mutation	SNP	C	C	T	rs199734031		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86690887C>T	ENST00000256897.4	-	8	1131	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	CCNH_ENST00000504878.1_Missense_Mutation_p.V229I|CCNH_ENST00000508855.1_Missense_Mutation_p.V229I	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	303					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TTCTTTGAGACGTAATCATCA	0.313								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000508855.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15						c.(685-687)Gtc>Atc	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	cyclin H							201.0	216.0	211.0					5																	86690887		2203	4298	6501	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86690887C>T	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.907G>A	5.37:g.86690887C>T	ENSP00000256897:p.Val303Ile					CCNH_ENST00000256897.4_Missense_Mutation_p.V303I|CCNH_ENST00000504878.1_Missense_Mutation_p.V229I	p.V229I			P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	7	737	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	303					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.685G>A	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965718	0.34659	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.54479	0.57;0.57;0.57	5.27	2.4	0.29515	.	0.450261	0.24698	N	0.036333	T	0.30417	0.0764	N	0.12569	0.235	0.33193	D	0.551182	B;B	0.18968	0.032;0.014	B;B	0.10450	0.005;0.003	T	0.24190	-1.0167	10	0.30078	T	0.28	-5.132	8.8292	0.35074	0.0:0.6068:0.0:0.3932	.	303;250	P51946;E9PDB6	CCNH_HUMAN;.	I	229;303;229	ENSP00000426454:V229I;ENSP00000256897:V303I;ENSP00000426075:V229I	ENSP00000256897:V303I	V	-	1	0	CCNH	86726643	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.920000	0.28705	0.260000	0.21731	0.557000	0.71058	GTC		0.313	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		51	121	0	0	0	1	0	51	121				
ATP6AP1	537	broad.mit.edu	37	X	153660611	153660611	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153660611G>T	ENST00000369762.2	+	4	424		c.e4-1		ATP6AP1_ENST00000484908.1_Splice_Site	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1						ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGTCCCCAGAATGCCCTGG	0.642											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.e4-1		ATPase, H+ transporting, lysosomal accessory protein 1							46.0	42.0	43.0					X																	153660611		2203	4300	6503	SO:0001630	splice_region_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153660611G>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.364-1G>T	X.37:g.153660611G>T			OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1757	ATP6AP1_ENST00000484908.1_Splice_Site		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			4	424	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							A6ZKI4|Q8NBT4|Q9H0C7	Splice_Site	SNP	ENST00000369762.2	37		CCDS35451.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729447	0.48833	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000449556	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3508	0.66699	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6AP1	153313805	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	8.517000	0.90555	2.465000	0.83290	0.529000	0.55759	.		0.642	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183	Intron	7	16	1	0	1.26484e-09	1	1.54084e-09	7	16				
RCOR3	55758	broad.mit.edu	37	1	211444642	211444642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211444642G>T	ENST00000367005.4	+	2	259	c.118G>T	c.(118-120)Gat>Tat	p.D40Y	RCOR3_ENST00000419091.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000452621.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000367006.4_Missense_Mutation_p.D98Y	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	40	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAGTATCCCAGATGCCAAATG	0.358																																						ENST00000367005.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(118-120)Gat>Tat		REST corepressor 3							95.0	96.0	96.0					1																	211444642		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211444642G>T	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.118G>T	1.37:g.211444642G>T	ENSP00000355972:p.Asp40Tyr					RCOR3_ENST00000452621.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000419091.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000367006.4_Missense_Mutation_p.D98Y	p.D40Y	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	2	259	+			40			ELM2.		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.118G>T	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653554	0.88056	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	6.08	6.08	0.98989	ELM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.996;0.998	T	0.72343	-0.4322	10	0.87932	D	0	-20.0184	20.6647	0.99678	0.0:0.0:1.0:0.0	.	98;40;98;98	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	Y	40;40;98;98;98;40	ENSP00000436057:D40Y;ENSP00000436838:D40Y;ENSP00000355973:D98Y;ENSP00000398558:D98Y;ENSP00000413929:D98Y;ENSP00000355972:D40Y	ENSP00000355972:D40Y	D	+	1	0	RCOR3	209511265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.513000	0.98010	2.890000	0.99128	0.655000	0.94253	GAT		0.358	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		17	37	1	0	1.87028e-06	1	2.164e-06	17	37				
SMEK1	55671	broad.mit.edu	37	14	91927861	91927861	+	Missense_Mutation	SNP	G	G	A	rs141774507		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91927861G>A	ENST00000554943.1	-	14	2370	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	SMEK1_ENST00000555462.1_Missense_Mutation_p.T513M|SMEK1_ENST00000337238.4_Missense_Mutation_p.T739M|SMEK1_ENST00000428424.2_Missense_Mutation_p.T513M|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554684.1_Missense_Mutation_p.T739M			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	752					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTAGTCTTCGTTCCACTGGA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		16060	0.0		0.001	False		,,,				2504	0.0					ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(2215-2217)aCg>aTg		SMEK homolog 1, suppressor of mek1 (Dictyostelium)		G	MET/THR	0,4406		0,0,2203	159.0	166.0	164.0		2216	5.8	1.0	14	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SMEK1	NM_032560.4	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	739/821	91927861	2,13004	2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91927861G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2255C>T	14.37:g.91927861G>A	ENSP00000450883:p.Thr752Met					SMEK1_ENST00000337238.4_Missense_Mutation_p.T739M|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.T513M|SMEK1_ENST00000428424.2_Missense_Mutation_p.T513M|SMEK1_ENST00000554943.1_Missense_Mutation_p.T752M	p.T739M			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	14	2712	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	752					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.2216C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	26.7	4.759783	0.89932	0.0	2.33E-4	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462	T;T;T	0.46063	0.88;0.88;0.88	5.79	5.79	0.91817	.	0.044055	0.85682	D	0.000000	T	0.49389	0.1554	L	0.38175	1.15	0.80722	D	1	D;P;P	0.69078	0.997;0.896;0.947	P;B;P	0.53401	0.725;0.411;0.703	T	0.39702	-0.9601	10	0.46703	T	0.11	-12.3227	20.0349	0.97554	0.0:0.0:1.0:0.0	.	513;752;739	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	M	739;739;513;752;513	ENSP00000450864:T739M;ENSP00000337125:T739M;ENSP00000450883:T752M	ENSP00000337125:T739M	T	-	2	0	SMEK1	90997614	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.369000	0.79578	2.744000	0.94065	0.650000	0.86243	ACG		0.488	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		84	126	0	0	0	1	0	84	126				
ERCC6L	54821	broad.mit.edu	37	X	71428206	71428206	+	Silent	SNP	G	G	A	rs139365371	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71428206G>A	ENST00000334463.3	-	2	546	c.411C>T	c.(409-411)tcC>tcT	p.S137S	ERCC6L_ENST00000373657.1_Silent_p.S14S|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAACATACCGGAAAGGAAAG	0.403													A|||	1	0.000264901	0.0	0.0014	3775	,	,		16640	0.0		0.0	False		,,,				2504	0.0					ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(40-42)tcC>tcT		excision repair cross-complementing rodent repair deficiency, complementation group 6-like		A	,	0,3835		0,0,0,1632,571	151.0	139.0	143.0		,411	-2.4	1.0	X	dbSNP_134	143	2,6726		0,1,1,2427,1871	no	intron,coding-synonymous	PIN4,ERCC6L	NM_001170747.1,NM_017669.2	,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	,	,137/1251	71428206	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71428206G>A	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.411C>T	X.37:g.71428206G>A						ERCC6L_ENST00000334463.3_Silent_p.S137S|PIN4_ENST00000423432.2_Intron	p.S14S			Q2NKX8	ERC6L_HUMAN			3	644	-	Renal(35;0.156)		137					Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.42C>T	CCDS35329.1																																																																																				0.403	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		5	178	0	0	0	1	0	5	178				
CBX4	8535	broad.mit.edu	37	17	77808831	77808831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808831C>T	ENST00000269397.4	-	5	787	c.610G>A	c.(610-612)Gcc>Acc	p.A204T		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	204	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAGCCTTTGGCCCCCGCACCT	0.736											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(610-612)Gcc>Acc		chromobox homolog 4							28.0	34.0	32.0					17																	77808831		2184	4270	6454	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808831C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.610G>A	17.37:g.77808831C>T	ENSP00000269397:p.Ala204Thr		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.A204T	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	787	-			204			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.610G>A	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	c	0.110	-1.140162	0.01728	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.79	-0.954	0.10359	.	0.916710	0.09102	N	0.848313	T	0.33469	0.0864	L	0.42245	1.32	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38265	-0.9669	9	0.10377	T	0.69	5.0E-4	0.8024	0.01077	0.1773:0.2802:0.3063:0.2362	.	204	O00257	CBX4_HUMAN	T	204	.	ENSP00000269397:A204T	A	-	1	0	CBX4	75423426	0.218000	0.23608	0.469000	0.27204	0.333000	0.28666	0.947000	0.29082	0.084000	0.17077	0.306000	0.20318	GCC		0.736	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		13	28	0	0	0	1	0	13	28				
SH3RF3	344558	broad.mit.edu	37	2	110015264	110015264	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110015264G>A	ENST00000309415.6	+	4	1164	c.1164G>A	c.(1162-1164)acG>acA	p.T388T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	388							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCAGTGTGACGCACAGATCCT	0.592																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1162-1164)acG>acA		SH3 domain containing ring finger 3							44.0	54.0	51.0					2																	110015264		2196	4298	6494	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110015264G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1164G>A	2.37:g.110015264G>A							p.T388T	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			4	1164	+			388					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1164G>A																																																																																					0.592	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		9	9	0	0	0	1	0	9	9				
DCBLD2	131566	broad.mit.edu	37	3	98519468	98519468	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98519468G>T	ENST00000326840.6	-	15	2175	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M	DCBLD2_ENST00000326857.9_Missense_Mutation_p.L619M	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	605					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTTGGACTCAGGTGATTAACT	0.502																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(1813-1815)Ctg>Atg		discoidin, CUB and LCCL domain containing 2							212.0	210.0	210.0					3																	98519468		2072	4212	6284	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98519468G>T		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1813C>A	3.37:g.98519468G>T	ENSP00000321573:p.Leu605Met					DCBLD2_ENST00000326857.9_Missense_Mutation_p.L619M	p.L605M	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			15	2175	-			605					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.1813C>A	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277121	0.59758	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.33654	1.4;1.4	5.76	-3.57	0.04612	.	0.166634	0.37857	N	0.001906	T	0.43478	0.1249	L	0.47716	1.5	0.35298	D	0.782773	D;D	0.76494	0.999;0.996	D;P	0.69654	0.965;0.823	T	0.47923	-0.9079	10	0.52906	T	0.07	-12.4857	10.0353	0.42125	0.7307:0.1151:0.1543:0.0	.	619;605	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	M	605;619	ENSP00000321573:L605M;ENSP00000321646:L619M	ENSP00000321573:L605M	L	-	1	2	DCBLD2	100002158	0.253000	0.23982	0.711000	0.30485	0.967000	0.64934	-0.247000	0.08866	-0.927000	0.03766	-0.150000	0.13652	CTG		0.502	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		8	116	1	0	0.0477658	1	0.0488009	8	116				
TRIM45	80263	broad.mit.edu	37	1	117663672	117663672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117663672G>A	ENST00000256649.4	-	1	678	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TRIM45_ENST00000369464.3_Missense_Mutation_p.T51M|TRIM45_ENST00000369461.3_Intron	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	51					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTCCAGACACGTGGTGCAAAC	0.562																																						ENST00000256649.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(151-153)aCg>aTg		tripartite motif containing 45							67.0	68.0	67.0					1																	117663672		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117663672G>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.152C>T	1.37:g.117663672G>A	ENSP00000256649:p.Thr51Met					TRIM45_ENST00000369464.3_Missense_Mutation_p.T51M|TRIM45_ENST00000369461.3_Intron	p.T51M	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	1	678	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	51					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.152C>T	CCDS893.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814061	0.50527	.	.	ENSG00000134253	ENST00000256649;ENST00000369464	D;D	0.85861	-2.04;-2.04	5.12	-0.496	0.12027	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.030520	0.07630	N	0.928494	T	0.67869	0.2939	L	0.37800	1.135	0.09310	N	1	P;P	0.48834	0.835;0.916	B;P	0.45406	0.326;0.479	T	0.60219	-0.7306	10	0.48119	T	0.1	-1.9431	8.5238	0.33293	0.0:0.36:0.2321:0.4079	.	51;51	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	M	51	ENSP00000256649:T51M;ENSP00000358476:T51M	ENSP00000256649:T51M	T	-	2	0	TRIM45	117465195	0.458000	0.25760	0.033000	0.17914	0.994000	0.84299	1.080000	0.30779	-0.252000	0.09528	0.561000	0.74099	ACG		0.562	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		9	60	0	0	0	1	0	9	60				
DACT1	51339	broad.mit.edu	37	14	59112616	59112616	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112616C>T	ENST00000335867.4	+	4	1299	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	DACT1_ENST00000541264.2_Silent_p.A144A|DACT1_ENST00000395153.3_Silent_p.A388A|DACT1_ENST00000556859.1_Silent_p.A144A			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	425					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AATCAAAGGCCGAACAAGCCG	0.572																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1162-1164)gcC>gcT		dishevelled-binding antagonist of beta-catenin 1																																				SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112616C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1275C>T	14.37:g.59112616C>T						DACT1_ENST00000556859.1_Silent_p.A144A|DACT1_ENST00000395151.3_Silent_p.A144A|DACT1_ENST00000335867.4_Silent_p.A425A|DACT1_ENST00000541264.2_Silent_p.A144A	p.A388A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1311	+			425					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1164C>T	CCDS9736.1																																																																																				0.572	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		13	29	0	0	0	1	0	13	29				
MAN2B2	23324	broad.mit.edu	37	4	6588879	6588879	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588879C>A	ENST00000285599.3	+	4	584	c.548C>A	c.(547-549)gCc>gAc	p.A183D	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A183D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	183					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTGAAGGCAGCCATGCAGGAG	0.652																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(547-549)gCc>gAc		mannosidase, alpha, class 2B, member 2							35.0	35.0	35.0					4																	6588879		2203	4299	6502	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6588879C>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.548C>A	4.37:g.6588879C>A	ENSP00000285599:p.Ala183Asp					MAN2B2_ENST00000504248.1_Missense_Mutation_p.A183D	p.A183D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			4	584	+			183					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.548C>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.661|0.661	-0.805727|-0.805727	0.02819|0.02819	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;T|.	0.73789|.	-0.78;-0.78|.	4.05|4.05	-0.572|-0.572	0.11745|0.11745	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);|.	0.600314|.	0.17604|.	N|.	0.168336|.	T|T	0.17577|0.17577	0.0422|0.0422	N|N	0.10809|0.10809	0.05|0.05	0.26587|0.26587	N|N	0.973264|0.973264	B;B;B|.	0.14012|.	0.009;0.009;0.004|.	B;B;B|.	0.18561|.	0.022;0.022;0.007|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.11182|.	T|.	0.66|.	-13.0944|-13.0944	7.6298|7.6298	0.28232|0.28232	0.5491:0.3592:0.0:0.0918|0.5491:0.3592:0.0:0.0918	.|.	183;183;183|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	D|T	183|182	ENSP00000285599:A183D;ENSP00000423129:A183D|.	ENSP00000285599:A183D|.	A|P	+|+	2|1	0|0	MAN2B2|MAN2B2	6639780|6639780	0.022000|0.022000	0.18835|0.18835	0.269000|0.269000	0.24586|0.24586	0.364000|0.364000	0.29643|0.29643	-0.035000|-0.035000	0.12205|0.12205	-0.048000|-0.048000	0.13401|0.13401	-0.320000|-0.320000	0.08662|0.08662	GCC|CCA		0.652	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		4	14	1	0	1	1	1	4	14				
CLK2	1196	broad.mit.edu	37	1	155233072	155233072	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155233072G>A	ENST00000368361.4	-	13	1752	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000536801.1_Silent_p.F479F|CLK2_ENST00000361168.5_Silent_p.F478F|SCAMP3_ENST00000302631.3_5'Flank|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000355560.4_Silent_p.F477F|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGGCGGGCGAAGAAAGGAT	0.562								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1435-1437)ttC>ttT	Other conserved DNA damage response genes	CDC-like kinase 2							65.0	61.0	62.0					1																	155233072		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155233072G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1437C>T	1.37:g.155233072G>A						CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.F479F|CLK2_ENST00000361168.5_Silent_p.F478F|CLK2_ENST00000355560.4_Silent_p.F477F	p.F479F			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		13	1752	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		479			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.1437C>T																																																																																					0.562	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		21	27	0	0	0	1	0	21	27				
EFCAB6	64800	broad.mit.edu	37	22	44022455	44022455	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44022455G>A	ENST00000262726.7	-	20	2590	c.2337C>T	c.(2335-2337)gaC>gaT	p.D779D	EFCAB6_ENST00000396231.2_Silent_p.D627D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAACTCGTCGTCTTTGAGAT	0.433																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2335-2337)gaC>gaT		EF-hand calcium binding domain 6							96.0	91.0	93.0					22																	44022455		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44022455G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2337C>T	22.37:g.44022455G>A						EFCAB6_ENST00000396231.2_Silent_p.D627D	p.D779D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			20	2590	-		Ovarian(80;0.0247)|all_neural(38;0.025)	779					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.2337C>T	CCDS14049.1																																																																																				0.433	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		38	40	0	0	0	1	0	38	40				
TPD52L3	89882	broad.mit.edu	37	9	6328717	6328717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6328717C>A	ENST00000344545.5	+	1	369	c.122C>A	c.(121-123)gCt>gAt	p.A41D	TPD52L3_ENST00000381428.1_Missense_Mutation_p.A41D|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A41D	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	41										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAATTGGAGGCTGAAATTGTA	0.517																																						ENST00000344545.5																			0				large_intestine(1)|lung(9)|skin(1)	11						c.(121-123)gCt>gAt		tumor protein D52-like 3							98.0	91.0	93.0					9																	6328717		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328717C>A	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.122C>A	9.37:g.6328717C>A	ENSP00000341677:p.Ala41Asp					TPD52L3_ENST00000314556.3_Missense_Mutation_p.A41D|TPD52L3_ENST00000381428.1_Missense_Mutation_p.A41D	p.A41D	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	369	+		Acute lymphoblastic leukemia(23;0.158)	41					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.122C>A	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703021	0.30232	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.18174	2.23;2.23;2.23	4.88	-3.48	0.04739	.	0.377833	0.25701	N	0.028878	T	0.05686	0.0149	N	0.10945	0.07	0.09310	N	0.999997	B;B;B	0.16166	0.004;0.016;0.013	B;B;B	0.25405	0.016;0.06;0.02	T	0.29336	-1.0015	10	0.18276	T	0.48	-24.7039	2.2633	0.04072	0.5079:0.2122:0.1189:0.1611	.	41;41;41	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	D	41	ENSP00000341677:A41D;ENSP00000370836:A41D;ENSP00000318665:A41D	ENSP00000318665:A41D	A	+	2	0	TPD52L3	6318717	0.118000	0.22208	0.001000	0.08648	0.370000	0.29829	0.358000	0.20216	-0.411000	0.07530	0.511000	0.50034	GCT		0.517	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		5	48	1	0	0.000602214	1	0.000649039	5	48				
GPSM2	29899	broad.mit.edu	37	1	109445823	109445823	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109445823T>A	ENST00000406462.2	+	10	1802	c.1029T>A	c.(1027-1029)caT>caA	p.H343Q	GPSM2_ENST00000264126.3_Missense_Mutation_p.H343Q|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	343					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAGCAATGCATTTTGCTGAAA	0.373																																						ENST00000406462.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(1027-1029)caT>caA		G-protein signaling modulator 2							100.0	97.0	98.0					1																	109445823		2202	4300	6502	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109445823T>A	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1029T>A	1.37:g.109445823T>A	ENSP00000385510:p.His343Gln					AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.H343Q	p.H343Q			P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	10	1802	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	343					Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.1029T>A	CCDS792.2	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356212	0.41700	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	T;T	0.61510	0.1;0.1	5.72	0.249	0.15531	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.045703	0.85682	D	0.000000	T	0.22704	0.0548	L	0.35341	1.055	0.41624	D	0.988988	B	0.18741	0.03	B	0.22880	0.042	T	0.08764	-1.0706	10	0.17832	T	0.49	-22.8992	10.8414	0.46718	0.0:0.3599:0.0:0.6401	.	343	P81274	GPSM2_HUMAN	Q	343	ENSP00000385510:H343Q;ENSP00000264126:H343Q	ENSP00000264126:H343Q	H	+	3	2	GPSM2	109247346	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.093000	0.30939	-0.196000	0.10366	0.528000	0.53228	CAT		0.373	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		42	27	0	0	0	1	0	42	27				
HIST2H2BA	337875	broad.mit.edu	37	1	120906108	120906108	+	lincRNA	SNP	G	G	A	rs200958058	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120906108G>A	ENST00000427872.1	-	0	0				HIST2H2BA_ENST00000430394.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA																							TTACGAGAGTGCAGAAGAAGG	0.547																																						ENST00000430394.1																			0																																																			0							g.chr1:120906108G>A																													1.37:g.120906108G>A								NR_027337.1						0	81	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.547	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			15	96	0	0	0	1	0	15	96				
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	C	T	rs147244156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1510-1512)tgC>tgT		glypican 5		C		0,4406		0,0,2203	168.0	143.0	151.0		1512	-2.8	0.6	13	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPC5	NM_004466.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		504/573	92797193	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92797193C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1512C>T	13.37:g.92797193C>T							p.C504C	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			7	1884	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	504					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.1512C>T	CCDS9468.1																																																																																				0.443	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		11	37	0	0	0	1	0	11	37				
GBP2	2634	broad.mit.edu	37	1	89582884	89582884	+	Missense_Mutation	SNP	G	G	T	rs369251246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89582884G>T	ENST00000370466.3	-	6	927	c.659C>A	c.(658-660)cCt>cAt	p.P220H	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	220	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GCACAACCGAGGATCATTAAA	0.383																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(658-660)cCt>cAt		guanylate binding protein 2, interferon-inducible							69.0	66.0	67.0					1																	89582884		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89582884G>T	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.659C>A	1.37:g.89582884G>T	ENSP00000359497:p.Pro220His					GBP2_ENST00000463660.1_5'UTR	p.P220H	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	6	927	-		Lung NSC(277;0.0908)	220					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.659C>A	CCDS719.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579451	0.46006	.	.	ENSG00000162645	ENST00000370466	T	0.61980	0.06	3.46	3.46	0.39613	Guanylate-binding protein, N-terminal (1);	0.433797	0.18467	U	0.140357	T	0.77329	0.4114	M	0.92738	3.34	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.69323	-0.5175	10	0.87932	D	0	-11.8658	12.7793	0.57469	0.0:0.0:1.0:0.0	.	220	P32456	GBP2_HUMAN	H	220	ENSP00000359497:P220H	ENSP00000359497:P220H	P	-	2	0	GBP2	89355472	0.997000	0.39634	0.007000	0.13788	0.002000	0.02628	3.594000	0.54008	1.904000	0.55121	0.591000	0.81541	CCT		0.383	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		4	70	1	0	1.23904e-05	1	1.39987e-05	4	70				
CCDC150	284992	broad.mit.edu	37	2	197511104	197511104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511104C>T	ENST00000389175.4	+	2	187	c.52C>T	c.(52-54)Cca>Tca	p.P18S	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	18										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCCTTTCTCCAACCCACAT	0.418																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(52-54)Cca>Tca		coiled-coil domain containing 150							176.0	163.0	168.0					2																	197511104		1936	4124	6060	SO:0001583	missense	284992							g.chr2:197511104C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.52C>T	2.37:g.197511104C>T	ENSP00000373827:p.Pro18Ser					CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	p.P18S	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			2	187	+			18					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.52C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748466	0.69533	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.28666	1.6	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.51787	0.1695	M	0.71581	2.175	0.80722	D	1	D;P	0.69078	0.997;0.873	D;B	0.71414	0.973;0.412	T	0.51301	-0.8723	10	0.49607	T	0.09	.	12.941	0.58345	0.0:1.0:0.0:0.0	.	18;18	Q8NCX0;F5H6M2	CC150_HUMAN;.	S	18	ENSP00000373827:P18S	ENSP00000373827:P18S	P	+	1	0	CCDC150	197219349	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.153000	0.42282	2.517000	0.84864	0.655000	0.94253	CCA		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		44	63	0	0	0	1	0	44	63				
MAGEC1	9947	broad.mit.edu	37	X	140994996	140994996	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140994996G>T	ENST00000285879.4	+	4	2092	c.1806G>T	c.(1804-1806)ggG>ggT	p.G602G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	602										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCAGGGGGAGGACTCCA	0.582										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1804-1806)ggG>ggT		melanoma antigen family C, 1							205.0	219.0	214.0					X																	140994996		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994996G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1806G>T	X.37:g.140994996G>T		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.G602G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2092	+	Acute lymphoblastic leukemia(192;6.56e-05)		602					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1806G>T	CCDS35417.1																																																																																				0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		158	233	1	0	5.91039e-102	1	8.00551e-102	158	233				
FLJ33360	401172	broad.mit.edu	37	5	6312523	6312523	+	lincRNA	SNP	C	C	T	rs369179788		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6312523C>T	ENST00000507444.1	-	0	449					NR_028351.1																						CCCTAGAAGACGGGTCCCTCC	0.592																																						ENST00000507444.1																			0															C		1,3959		0,1,1979	27.0	30.0	29.0			-2.3	0.0	5		29	0,8338		0,0,4169	no	intergenic				0,1,6148	TT,TC,CC		0.0,0.0253,0.0081			6312523	1,12297	1980	4169	6149			0							g.chr5:6312523C>T																													5.37:g.6312523C>T								NR_028351.1						0	449	-									RNA	SNP	ENST00000507444.1	37																																																																																						0.592	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365707.1			5	8	0	0	0	1	0	5	8				
PRDX4	10549	broad.mit.edu	37	X	23685739	23685739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23685739C>T	ENST00000379341.4	+	1	177	c.52C>T	c.(52-54)Cga>Tga	p.R18*	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Nonsense_Mutation_p.R18*	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	18					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGGCCGCCACCGAAGgctgct	0.687																																						ENST00000379341.4																			0				lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(52-54)Cga>Tga		peroxiredoxin 4							11.0	9.0	10.0					X																	23685739		2175	4243	6418	SO:0001587	stop_gained	10549				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	g.chrX:23685739C>T	U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.52C>T	X.37:g.23685739C>T	ENSP00000368646:p.Arg18*					PRDX4_ENST00000379331.3_Nonsense_Mutation_p.R18*|PRDX4_ENST00000495599.1_3'UTR	p.R18*	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN			1	177	+			18					Q6FHT3	Nonsense_Mutation	SNP	ENST00000379341.4	37	c.52C>T	CCDS14206.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847825	0.71603	.	.	ENSG00000123131	ENST00000379341;ENST00000379331	.	.	.	3.19	2.32	0.28847	.	1.188320	0.06419	N	0.722024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0068	7.96	0.30066	0.0:0.8684:0.0:0.1316	.	.	.	.	X	18	.	ENSP00000368635:R18X	R	+	1	2	PRDX4	23595660	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.484000	0.22308	0.737000	0.32582	-0.190000	0.12839	CGA		0.687	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056049.1	NM_006406		4	4	0	0	0	1	0	4	4				
SAMD9L	219285	broad.mit.edu	37	7	92762895	92762895	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762895G>T	ENST00000318238.4	-	5	3606	c.2390C>A	c.(2389-2391)cCt>cAt	p.P797H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P797H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P797H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	797					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGAAGCACAGGAATGTAATC	0.383																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2389-2391)cCt>cAt		sterile alpha motif domain containing 9-like							105.0	102.0	103.0					7																	92762895		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92762895G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2390C>A	7.37:g.92762895G>T	ENSP00000326247:p.Pro797His					SAMD9L_ENST00000437805.1_Missense_Mutation_p.P797H|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P797H	p.P797H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3606	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		797					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.2390C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792240	0.70452	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	D;D;D	0.82081	-1.57;-1.57;-1.57	4.77	4.77	0.60923	.	0.073221	0.56097	D	0.000038	D	0.90518	0.7029	M	0.69823	2.125	0.53688	D	0.999979	D	0.89917	1.0	D	0.83275	0.996	D	0.91636	0.5323	10	0.87932	D	0	-11.1966	17.5752	0.87946	0.0:0.0:1.0:0.0	.	797	Q8IVG5	SAM9L_HUMAN	H	797	ENSP00000326247:P797H;ENSP00000405760:P797H;ENSP00000408796:P797H	ENSP00000326247:P797H	P	-	2	0	SAMD9L	92600831	1.000000	0.71417	0.991000	0.47740	0.879000	0.50718	9.451000	0.97610	2.490000	0.84030	0.467000	0.42956	CCT		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		39	113	1	0	2.75727e-19	1	3.60684e-19	39	113				
TDRD9	122402	broad.mit.edu	37	14	104460675	104460675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104460675G>A	ENST00000409874.4	+	10	1235	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D	TDRD9_ENST00000339063.5_Missense_Mutation_p.G396D	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	396	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTAGGTCTGGGTGAAATAAAT	0.338																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(1186-1188)gGt>gAt		tudor domain containing 9							163.0	171.0	168.0					14																	104460675		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104460675G>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1187G>A	14.37:g.104460675G>A	ENSP00000387303:p.Gly396Asp					TDRD9_ENST00000339063.5_Missense_Mutation_p.G396D	p.G396D	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			10	1235	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	396			Helicase C-terminal.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1187G>A	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542941	0.27563	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.02498	4.27;4.27	5.72	2.73	0.32206	Helicase, C-terminal (1);	0.574890	0.15678	N	0.250078	T	0.02083	0.0065	N	0.17800	0.525	0.21290	N	0.999732	B;B	0.22003	0.063;0.002	B;B	0.21360	0.034;0.012	T	0.47484	-0.9114	10	0.27082	T	0.32	.	6.205	0.20598	0.0696:0.3738:0.4283:0.1283	.	396;396	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	D	396	ENSP00000387303:G396D;ENSP00000343545:G396D	ENSP00000343545:G396D	G	+	2	0	TDRD9	103530428	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.071000	0.30666	0.759000	0.33084	-0.150000	0.13652	GGT		0.338	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		9	143	0	0	0	1	0	9	143				
ZNF215	7762	broad.mit.edu	37	11	6964317	6964317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6964317C>T	ENST00000278319.5	+	5	1075	c.487C>T	c.(487-489)Cca>Tca	p.P163S	ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.P163S|ZNF215_ENST00000529903.1_Missense_Mutation_p.P163S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	163					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GTTTTAGGAACCAGTGACATT	0.428																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(487-489)Cca>Tca		zinc finger protein 215							117.0	116.0	116.0					11																	6964317		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6964317C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.487C>T	11.37:g.6964317C>T	ENSP00000278319:p.Pro163Ser					ZNF215_ENST00000414517.2_Missense_Mutation_p.P163S|ZNF215_ENST00000529903.1_Missense_Mutation_p.P163S|ZNF215_ENST00000527171.1_Intron	p.P163S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	5	1075	+			163					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.487C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	3.711	-0.059630	0.07317	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.00760	5.73;5.73;5.73	4.38	3.47	0.39725	Krueppel-associated box (1);	0.637164	0.13078	N	0.415534	T	0.00552	0.0018	N	0.12853	0.265	0.24613	N	0.993714	P;P	0.46987	0.888;0.819	B;B	0.43536	0.423;0.383	T	0.35176	-0.9799	10	0.05351	T	0.99	1.1381	7.5694	0.27898	0.0:0.8866:0.0:0.1134	.	163;163	Q96C84;Q9UL58	.;ZN215_HUMAN	S	163	ENSP00000278319:P163S;ENSP00000393202:P163S;ENSP00000432306:P163S	ENSP00000278319:P163S	P	+	1	0	ZNF215	6920893	0.376000	0.25098	1.000000	0.80357	0.997000	0.91878	0.293000	0.19029	2.438000	0.82558	0.655000	0.94253	CCA		0.428	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			40	62	0	0	0	1	0	40	62				
NAALADL1	10004	broad.mit.edu	37	11	64824954	64824954	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64824954G>T	ENST00000358658.3	-	4	519	c.492C>A	c.(490-492)gtC>gtA	p.V164V	NAALADL1_ENST00000355369.2_Silent_p.V164V|NAALADL1_ENST00000340252.4_Silent_p.V164V|NAALADL1_ENST00000339885.2_Silent_p.V164V|NAALADL1_ENST00000355721.3_Intron|NAALADL1_ENST00000356632.3_Silent_p.V164V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGTTGGCATAGACGAGGAGGC	0.592																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(490-492)gtC>gtA		N-acetylated alpha-linked acidic dipeptidase-like 1							92.0	74.0	80.0					11																	64824954		2201	4297	6498	SO:0001819	synonymous_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64824954G>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.492C>A	11.37:g.64824954G>T						NAALADL1_ENST00000339885.2_Silent_p.V164V|NAALADL1_ENST00000340252.4_Silent_p.V164V|NAALADL1_ENST00000355369.2_Silent_p.V164V|NAALADL1_ENST00000355721.3_Intron|NAALADL1_ENST00000356632.3_Silent_p.V164V	p.V164V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			4	519	-			164					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	c.492C>A	CCDS31604.1																																																																																				0.592	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		8	26	1	0	1.12685e-05	1	1.27857e-05	8	26				
ALAD	210	broad.mit.edu	37	9	116150607	116150607	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150607C>A	ENST00000409155.3	-	12	1162	c.966G>T	c.(964-966)caG>caT	p.Q322H	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Missense_Mutation_p.Q305H	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	322					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	ACTGCAGCAGCTGCGGTGTGT	0.532																																						ENST00000409155.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9						c.(964-966)caG>caT		aminolevulinate dehydratase	Aminolevulinic acid(DB00855)						108.0	91.0	97.0					9																	116150607		2203	4300	6503	SO:0001583	missense	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116150607C>A	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.966G>T	9.37:g.116150607C>A	ENSP00000386284:p.Gln322His					ALAD_ENST00000277315.5_Missense_Mutation_p.Q305H	p.Q322H	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN			12	1162	-			322					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.966G>T	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278879	0.40294	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.87491	-2.26;-2.26	5.97	5.08	0.68730	Aldolase-type TIM barrel (1);	0.098661	0.64402	D	0.000001	D	0.87601	0.6218	M	0.76574	2.34	0.80722	D	1	B;B;P	0.44946	0.264;0.1;0.846	B;B;P	0.44860	0.267;0.216;0.462	D	0.88249	0.2915	10	0.87932	D	0	-11.8433	10.3183	0.43751	0.0:0.852:0.0:0.148	.	322;305;351	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	H	322;305	ENSP00000386284:Q322H;ENSP00000277315:Q305H	ENSP00000277315:Q305H	Q	-	3	2	ALAD	115190428	1.000000	0.71417	0.995000	0.50966	0.556000	0.35491	1.657000	0.37366	1.543000	0.49345	0.655000	0.94253	CAG		0.532	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		9	63	1	0	1.08611e-07	1	1.2824e-07	9	63				
RSPH4A	345895	broad.mit.edu	37	6	116948877	116948877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116948877G>A	ENST00000229554.5	+	3	1144	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R336H|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	336					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.R336H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACATACCGCATATTTCTT	0.438									Kartagener syndrome																													ENST00000229554.5																			1	Substitution - Missense(1)	p.R336H(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1006-1008)cGc>cAc		radial spoke head 4 homolog A (Chlamydomonas)							114.0	115.0	115.0					6																	116948877		2203	4300	6503	SO:0001583	missense	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116948877G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1007G>A	6.37:g.116948877G>A	ENSP00000229554:p.Arg336His					RSPH4A_ENST00000368581.4_Missense_Mutation_p.R336H|RSPH4A_ENST00000368580.4_Intron	p.R336H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1144	+			336					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1007G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862619	0.91511	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.20332	2.08;2.08	5.48	5.48	0.80851	.	0.048492	0.85682	D	0.000000	T	0.45677	0.1354	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.897;1.0	T	0.49725	-0.8909	10	0.51188	T	0.08	-7.8313	16.8276	0.85935	0.0:0.0:1.0:0.0	.	336;336	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	H	336;336;131	ENSP00000357570:R336H;ENSP00000229554:R336H	ENSP00000229554:R336H	R	+	2	0	RSPH4A	117055570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.259000	0.72494	2.542000	0.85734	0.591000	0.81541	CGC		0.438	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		30	54	0	0	0	1	0	30	54				
TNR	7143	broad.mit.edu	37	1	175360539	175360539	+	Silent	SNP	G	G	A	rs148973031		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175360539G>A	ENST00000367674.2	-	7	2100	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	TNR_ENST00000263525.2_Silent_p.S464S			Q92752	TENR_HUMAN	tenascin R	464	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S464S(3)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACGTAACATCGCTGGGGACCT	0.522																																						ENST00000367674.1																			3	Substitution - coding silent(3)	p.S464S(3)	pancreas(2)|upper_aerodigestive_tract(1)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1390-1392)agC>agT		tenascin R		G		0,4406		0,0,2203	53.0	51.0	52.0		1392	1.2	1.0	1	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TNR	NM_003285.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		464/1359	175360539	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175360539G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1392C>T	1.37:g.175360539G>A						TNR_ENST00000263525.2_Silent_p.S464S	p.S464S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			7	2100	-	Renal(580;0.146)		464			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.1392C>T	CCDS1318.1																																																																																				0.522	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		17	21	0	0	0	1	0	17	21				
COL7A1	1294	broad.mit.edu	37	3	48624626	48624626	+	Missense_Mutation	SNP	G	G	T	rs374283870	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48624626G>T	ENST00000328333.8	-	23	3243	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1046T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1046	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTATACCTGGCGTCTGTGTG	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		19395	0.0		0.0	False		,,,				2504	0.002					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(3136-3138)Cca>Aca		collagen, type VII, alpha 1		G	THR/PRO	0,4406		0,0,2203	78.0	65.0	69.0		3136	3.9	0.6	3		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL7A1	NM_000094.3	38	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	1046/2945	48624626	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48624626G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3136C>A	3.37:g.48624626G>T	ENSP00000332371:p.Pro1046Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1046T	p.P1046T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	23	3243	-			1046			Fibronectin type-III 9.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3136C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	1.877	-0.458709	0.04508	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.78364	-1.17;-1.17	5.95	3.86	0.44501	Fibronectin, type III (1);	0.145084	0.31438	N	0.007656	T	0.58977	0.2160	N	0.19112	0.55	0.29162	N	0.877672	B	0.16166	0.016	B	0.15052	0.012	T	0.46275	-0.9203	10	0.16896	T	0.51	.	7.5673	0.27887	0.0795:0.0:0.5927:0.3278	.	1046	Q02388	CO7A1_HUMAN	T	1046	ENSP00000332371:P1046T;ENSP00000412569:P1046T	ENSP00000332371:P1046T	P	-	1	0	COL7A1	48599630	0.359000	0.24955	0.592000	0.28758	0.033000	0.12548	0.142000	0.16096	0.576000	0.29452	0.655000	0.94253	CCA		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	13	1	0	3.59834e-05	1	4.01776e-05	4	13				
C1orf194	127003	broad.mit.edu	37	1	109650660	109650660	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109650660C>A	ENST00000369948.3	-	2	157		c.e2-1		C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369949.4_Splice_Site			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194											large_intestine(2)|lung(2)|ovary(2)	6						ATGGCAATTTCTGCAAAAGAG	0.493																																						ENST00000369949.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.e2-1		chromosome 1 open reading frame 194							180.0	167.0	171.0					1																	109650660		1568	3581	5149	SO:0001630	splice_region_variant	127003							g.chr1:109650660C>A		CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.82-1G>T	1.37:g.109650660C>A						C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369948.3_Splice_Site		NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN			2	225	-								Q5T5A3	Splice_Site	SNP	ENST00000369948.3	37			.	.	.	.	.	.	.	.	.	.	c	17.09	3.301099	0.60195	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.876	0.52548	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf194	109452183	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.943000	0.56621	2.258000	0.74832	0.473000	0.43528	.		0.493	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000032416.2	NM_001122961	Intron	5	167	1	0	0.217242	1	0.218821	5	167				
NRCAM	4897	broad.mit.edu	37	7	107834511	107834511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834511C>T	ENST00000425651.2	-	14	1734	c.1735G>A	c.(1735-1737)Gtc>Atc	p.V579I	NRCAM_ENST00000379024.4_Missense_Mutation_p.V560I|NRCAM_ENST00000351718.4_Missense_Mutation_p.V573I|NRCAM_ENST00000413765.2_Missense_Mutation_p.V560I|NRCAM_ENST00000379028.3_Missense_Mutation_p.V579I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V579I	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	579	Ig-like 6.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCCACAGGACAGTGAGGGAT	0.418																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1735-1737)Gtc>Atc		neuronal cell adhesion molecule							165.0	117.0	133.0					7																	107834511		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834511C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1735G>A	7.37:g.107834511C>T	ENSP00000401244:p.Val579Ile					NRCAM_ENST00000413765.2_Missense_Mutation_p.V560I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V560I|NRCAM_ENST00000351718.4_Missense_Mutation_p.V573I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V579I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V579I	p.V579I			Q92823	NRCAM_HUMAN			17	2205	-			579			Ig-like 6.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1735G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	4.233	0.042089	0.08196	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.7	0.24	0.15489	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.401201	0.29046	N	0.013304	T	0.45915	0.1366	N	0.12920	0.275	0.21762	N	0.999554	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0	B;B;B;B;B	0.29942	0.009;0.003;0.109;0.009;0.003	T	0.36915	-0.9728	10	0.02654	T	1	.	7.7014	0.28625	0.0:0.5853:0.119:0.2956	.	579;560;560;573;579	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	I	579;579;560;579;573;560;579;579;573	ENSP00000368314:V579I;ENSP00000407858:V560I;ENSP00000325269:V573I;ENSP00000368310:V560I;ENSP00000401244:V579I;ENSP00000368308:V579I	ENSP00000325269:V573I	V	-	1	0	NRCAM	107621747	0.406000	0.25344	0.044000	0.18714	0.028000	0.11728	0.702000	0.25631	0.282000	0.22254	0.655000	0.94253	GTC		0.418	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		52	52	0	0	0	1	0	52	52				
ZNF660	285349	broad.mit.edu	37	3	44635693	44635693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44635693G>T	ENST00000322734.2	+	3	341	c.8G>T	c.(7-9)aGa>aTa	p.R3I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAAATGAGGAGAAAGACAAGA	0.403																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(7-9)aGa>aTa		zinc finger protein 660							95.0	89.0	91.0					3																	44635693		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635693G>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.8G>T	3.37:g.44635693G>T	ENSP00000324605:p.Arg3Ile					RP11-944L7.4_ENST00000457331.1_RNA	p.R3I	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	341	+			3					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.8G>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449138	0.26074	.	.	ENSG00000144792	ENST00000416644;ENST00000441021;ENST00000322734	T	0.08634	3.07	4.65	3.78	0.43462	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.80722	D	1	B	0.32693	0.38	B	0.29440	0.102	T	0.52396	-0.8581	8	.	.	.	.	8.3946	0.32548	0.182:0.0:0.818:0.0	.	3	Q6AZW8	ZN660_HUMAN	I	3	ENSP00000324605:R3I	.	R	+	2	0	ZNF660	44610697	0.000000	0.05858	0.995000	0.50966	0.313000	0.28021	-0.099000	0.11007	1.318000	0.45170	0.655000	0.94253	AGA		0.403	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		4	34	1	0	1.23904e-05	1	1.39987e-05	4	34				
IGSF9B	22997	broad.mit.edu	37	11	133789708	133789708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133789708C>T	ENST00000321016.8	-	18	4142	c.3912G>A	c.(3910-3912)acG>acA	p.T1304T	IGSF9B_ENST00000533871.2_Silent_p.T1304T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1304	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GAGGGGAAGGCGTCTGTCCAA	0.687																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3910-3912)acG>acA		immunoglobulin superfamily, member 9B							21.0	26.0	24.0					11																	133789708		1976	4125	6101	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133789708C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3912G>A	11.37:g.133789708C>T						IGSF9B_ENST00000533871.2_Silent_p.T1304T	p.T1304T			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	4142	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1304			Pro-rich.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.3912G>A																																																																																					0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		11	13	0	0	0	1	0	11	13				
CYBRD1	79901	broad.mit.edu	37	2	172379134	172379134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172379134G>A	ENST00000321348.4	+	1	277	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	CYBRD1_ENST00000409484.1_Intron|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000375252.3_Missense_Mutation_p.A27T	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	27	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGTGATCTTCGCCCTCGTCTG	0.642																																						ENST00000321348.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						c.(79-81)Gcc>Acc		cytochrome b reductase 1							73.0	68.0	70.0					2																	172379134		2203	4300	6503	SO:0001583	missense	79901				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr2:172379134G>A	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.79G>A	2.37:g.172379134G>A	ENSP00000319141:p.Ala27Thr					CYBRD1_ENST00000375252.3_Missense_Mutation_p.A27T|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Intron	p.A27T	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN			1	277	+			27			Cytochrome b561.		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	c.79G>A	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	G	1.070	-0.670127	0.03403	.	.	ENSG00000071967	ENST00000321348;ENST00000375252	T	0.54071	0.59	4.71	-2.54	0.06307	Cytochrome b561/ferric reductase transmembrane (1);	0.479909	0.23039	N	0.052633	T	0.10337	0.0253	N	0.00221	-1.82	0.23095	N	0.998307	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39663	-0.9603	10	0.07644	T	0.81	-0.3399	4.3914	0.11343	0.4407:0.0:0.3139:0.2454	.	27;27	Q53TN4-2;Q53TN4	.;CYBR1_HUMAN	T	27	ENSP00000319141:A27T	ENSP00000319141:A27T	A	+	1	0	CYBRD1	172087380	0.982000	0.34865	0.815000	0.32552	0.301000	0.27625	0.593000	0.23999	-0.415000	0.07484	-2.027000	0.00425	GCC		0.642	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		4	11	0	0	0	1	0	4	11				
DDX5	1655	broad.mit.edu	37	17	62496859	62496859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62496859C>T	ENST00000225792.5	-	12	1650	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.D338N|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.D417N	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	417	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTAGGGTAGTCATAATTGATG	0.408			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1249-1251)Gac>Aac		DEAD (Asp-Glu-Ala-Asp) box helicase 5							131.0	116.0	121.0					17																	62496859		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496859C>T	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1249G>A	17.37:g.62496859C>T	ENSP00000225792:p.Asp417Asn					DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Missense_Mutation_p.D338N|DDX5_ENST00000578804.1_Missense_Mutation_p.D417N	p.D417N	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		12	1650	-	Breast(5;2.15e-14)		417			Helicase C-terminal.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.1249G>A	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070953	0.36566	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T	0.17054	2.3	5.73	5.73	0.89815	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.41945	-0.9480	10	0.87932	D	0	-10.0524	20.2602	0.98440	0.0:1.0:0.0:0.0	.	338;417;417	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	N	417;347;406	ENSP00000225792:D406N	ENSP00000225792:D406N	D	-	1	0	DDX5	59927321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.258000	0.78371	2.861000	0.98227	0.655000	0.94253	GAC		0.408	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		5	66	0	0	0	1	0	5	66				
DUSP9	1852	broad.mit.edu	37	X	152914912	152914912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152914912G>A	ENST00000342782.3	+	3	864	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DUSP9_ENST00000370167.4_Missense_Mutation_p.R200Q			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	200					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGGCTGCGGGCATCCTTC	0.637																																						ENST00000342782.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16						c.(598-600)cGg>cAg		dual specificity phosphatase 9							61.0	54.0	56.0					X																	152914912		2203	4300	6503	SO:0001583	missense	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152914912G>A	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.599G>A	X.37:g.152914912G>A	ENSP00000345853:p.Arg200Gln					DUSP9_ENST00000370167.4_Missense_Mutation_p.R200Q	p.R200Q			Q99956	DUS9_HUMAN			3	864	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		200					D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	c.599G>A	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.776|1.776	-0.483201|-0.483201	0.04383|0.04383	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|T;T	.|0.02236	.|4.38;4.38	5.4|5.4	3.06|3.06	0.35304|0.35304	.|.	.|2.141170	.|0.02364	.|N	.|0.077219	T|T	0.00936|0.00936	0.0031|0.0031	N|N	0.00771|0.00771	-1.2|-1.2	0.25148|0.25148	N|N	0.990443|0.990443	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.46205|0.46205	-0.9208|-0.9208	5|10	.|0.09843	.|T	.|0.71	.|.	2.4942|2.4942	0.04617|0.04617	0.0:0.256:0.2952:0.4489|0.0:0.256:0.2952:0.4489	.|.	.|200	.|Q99956	.|DUS9_HUMAN	R|Q	171|200	.|ENSP00000359186:R200Q;ENSP00000345853:R200Q	.|ENSP00000345853:R200Q	G|R	+|+	1|2	0|0	DUSP9|DUSP9	152568106|152568106	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.370000|0.370000	0.29829|0.29829	1.668000|1.668000	0.37481|0.37481	0.710000|0.710000	0.31997|0.31997	-0.436000|-0.436000	0.05848|0.05848	GGG|CGG		0.637	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		22	48	0	0	0	1	0	22	48				
ETNK2	55224	broad.mit.edu	37	1	204103686	204103686	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204103686G>T	ENST00000367202.4	-	7	1195	c.1045C>A	c.(1045-1047)Ctc>Atc	p.L349I	ETNK2_ENST00000367197.1_Missense_Mutation_p.L31I|ETNK2_ENST00000367198.2_Missense_Mutation_p.L171I|ETNK2_ENST00000367201.3_Missense_Mutation_p.P384H|ETNK2_ENST00000367199.2_Missense_Mutation_p.L280I|RP11-74C13.4_ENST00000565388.1_RNA	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	349					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCTGGATGAGGGCCCAGAGA	0.567																																						ENST00000367199.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(838-840)Ctc>Atc		ethanolamine kinase 2							86.0	78.0	80.0					1																	204103686		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204103686G>T	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.1045C>A	1.37:g.204103686G>T	ENSP00000356170:p.Leu349Ile					ETNK2_ENST00000367197.1_Missense_Mutation_p.L31I|ETNK2_ENST00000367202.4_Missense_Mutation_p.L349I|ETNK2_ENST00000367198.2_Missense_Mutation_p.L171I|ETNK2_ENST00000367201.3_Missense_Mutation_p.P384H	p.L280I			Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		6	1248	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		349					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.838C>A	CCDS1442.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.054188|5.054188	0.93793|0.93793	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000367197;ENST00000422699|ENST00000367201	T;T;T;T;T|T	0.58060|0.54071	0.36;0.36;0.36;0.36;0.36|0.59	5.28|5.28	5.28|5.28	0.74379|0.74379	Protein kinase-like domain (1);|.	.|0.253789	.|0.39909	.|N	.|0.001232	T|T	0.55417|0.55417	0.1919|0.1919	L|L	0.37561|0.37561	1.115|1.115	0.58432|0.58432	D|D	0.999998|0.999998	D;D|P	0.63880|0.41569	0.993;0.988|0.755	P;P|P	0.57502|0.50378	0.822;0.668|0.639	T|T	0.52275|0.52275	-0.8597|-0.8597	9|10	0.16896|0.39692	T|T	0.51|0.17	-10.5915|-10.5915	16.0047|16.0047	0.80354|0.80354	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	308;349|384	Q9NVF9-3;Q9NVF9|Q9NVF9-2	.;EKI2_HUMAN|.	I|H	349;280;215;171;31;215|384	ENSP00000356170:L349I;ENSP00000356167:L280I;ENSP00000356166:L171I;ENSP00000356165:L31I;ENSP00000405497:L215I|ENSP00000356169:P384H	ENSP00000356165:L31I|ENSP00000356169:P384H	L|P	-|-	1|2	0|0	ETNK2|ETNK2	202370309|202370309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.050000|7.050000	0.76620|0.76620	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.567	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		13	37	1	0	1.5842e-08	1	1.90059e-08	13	37				
SGSM2	9905	broad.mit.edu	37	17	2274584	2274584	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2274584C>A	ENST00000426855.2	+	12	1492	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	SGSM2_ENST00000574563.1_Silent_p.G439G|SGSM2_ENST00000268989.3_Silent_p.G484G	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	439					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGATGCAGGGCTTTGGGCCCA	0.662																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1450-1452)ggC>ggA		small G protein signaling modulator 2							31.0	29.0	30.0					17																	2274584		2201	4298	6499	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2274584C>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1317C>A	17.37:g.2274584C>A						SGSM2_ENST00000426855.2_Silent_p.G439G|SGSM2_ENST00000574563.1_Silent_p.G439G	p.G484G	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	13	1629	+			439					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.1452C>A	CCDS45570.1																																																																																				0.662	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		7	12	1	0	0.27861	1	0.279982	7	12				
NSD1	64324	broad.mit.edu	37	5	176707732	176707732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176707732G>A	ENST00000439151.2	+	18	5834	c.5789G>A	c.(5788-5790)cGc>cAc	p.R1930H	NSD1_ENST00000347982.4_Missense_Mutation_p.R1661H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1827H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1661H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1930	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCGGAGGGCGCTGTCAAAAC	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5788-5790)cGc>cAc		nuclear receptor binding SET domain protein 1							73.0	67.0	69.0					5																	176707732		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707732G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5789G>A	5.37:g.176707732G>A	ENSP00000395929:p.Arg1930His	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.R1661H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1827H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1661H	p.R1930H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5834	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1930			AWS.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5789G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408819	0.62399	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.92	5.92	0.95590	AWS (2);	0.000000	0.64402	D	0.000005	D	0.85961	0.5819	L	0.38649	1.16	0.53688	D	0.99997	P;P;B	0.49696	0.927;0.927;0.407	B;B;B	0.40825	0.341;0.341;0.058	D	0.87077	0.2163	10	0.59425	D	0.04	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	1661;1827;1930	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	1661;1930;1661;1827	ENSP00000346111:R1661H;ENSP00000395929:R1930H;ENSP00000343209:R1661H;ENSP00000354310:R1827H	ENSP00000343209:R1661H	R	+	2	0	NSD1	176640338	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	6.715000	0.74697	2.801000	0.96364	0.650000	0.86243	CGC		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		4	53	0	0	0	1	0	4	53				
SNX9	51429	broad.mit.edu	37	6	158323018	158323018	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158323018C>T	ENST00000392185.3	+	6	732	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	187					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGATGCAGGCGGCGCTCAGC	0.502																																						ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(559-561)ggC>ggT		sorting nexin 9							85.0	82.0	83.0					6																	158323018		2203	4300	6503	SO:0001819	synonymous_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158323018C>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.561C>T	6.37:g.158323018C>T							p.G187G	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	6	732	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	187					Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	c.561C>T	CCDS5253.1																																																																																				0.502	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			19	39	0	0	0	1	0	19	39				
FAM214A	56204	broad.mit.edu	37	15	52901467	52901467	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52901467G>T	ENST00000261844.7	-	6	1796	c.1644C>A	c.(1642-1644)tcC>tcA	p.S548S	FAM214A_ENST00000546305.2_Silent_p.S555S	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	548																	CTCCTAACAAGGAACATTTTG	0.303																																						ENST00000261844.7																			0											c.(1642-1644)tcC>tcA		family with sequence similarity 214, member A							38.0	37.0	37.0					15																	52901467		1804	4073	5877	SO:0001819	synonymous_variant	56204							g.chr15:52901467G>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1644C>A	15.37:g.52901467G>T						FAM214A_ENST00000546305.2_Silent_p.S555S	p.S548S	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1796	-			548					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.1644C>A	CCDS45263.1																																																																																				0.303	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		4	39	1	0	0.00909568	1	0.00947522	4	39				
MKI67	4288	broad.mit.edu	37	10	129908731	129908731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129908731G>A	ENST00000368654.3	-	12	2702	c.2327C>T	c.(2326-2328)gCt>gTt	p.A776V	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.A416V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	776					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTGAAATAGCGATGTGACA	0.408																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(2326-2328)gCt>gTt		marker of proliferation Ki-67							133.0	133.0	133.0					10																	129908731		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129908731G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2327C>T	10.37:g.129908731G>A	ENSP00000357643:p.Ala776Val					MKI67_ENST00000368653.3_Missense_Mutation_p.A416V	p.A776V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			12	2702	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	776					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2327C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	3.827	-0.036510	0.07497	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01252	5.15;5.1	4.7	-0.755	0.11061	.	1.432380	0.04540	N	0.388062	T	0.00666	0.0022	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.007	B;B;B	0.11329	0.006;0.006;0.003	T	0.42632	-0.9440	10	0.02654	T	1	.	4.5901	0.12302	0.3118:0.3664:0.3218:0.0	.	775;416;776	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	776;416;775;351	ENSP00000357643:A776V;ENSP00000357642:A416V	ENSP00000357641:A351V	A	-	2	0	MKI67	129798721	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.006000	0.12833	0.032000	0.15435	-0.136000	0.14681	GCT		0.408	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		40	85	0	0	0	1	0	40	85				
FBN1	2200	broad.mit.edu	37	15	48802279	48802279	+	Missense_Mutation	SNP	G	G	A	rs141551765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48802279G>A	ENST00000316623.5	-	14	2131	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	559	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAAAGCCCGCATTACACAC	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		15848	0.001		0.0	False		,,,				2504	0.0					ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(1675-1677)gCg>gTg		fibrillin 1		G	VAL/ALA	0,4394		0,0,2197	111.0	100.0	104.0		1676	5.5	0.9	15	dbSNP_134	104	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	64	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	559/2872	48802279	1,12985	2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48802279G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1676C>T	15.37:g.48802279G>A	ENSP00000325527:p.Ala559Val						p.A559V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	14	2131	-		all_lung(180;0.00279)	559			EGF-like 8; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1676C>T	CCDS32232.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.5	4.643024	0.87859	0.0	1.16E-4	ENSG00000166147	ENST00000316623	D	0.92299	-3.01	5.5	5.5	0.81552	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	L	0.39326	1.205	0.80722	D	1	D	0.71674	0.998	P	0.61328	0.887	D	0.90359	0.4372	10	0.20046	T	0.44	.	18.3167	0.90224	0.0:0.0:1.0:0.0	.	559	P35555	FBN1_HUMAN	V	559	ENSP00000325527:A559V	ENSP00000325527:A559V	A	-	2	0	FBN1	46589571	1.000000	0.71417	0.923000	0.36655	0.680000	0.39746	9.813000	0.99286	2.736000	0.93811	0.591000	0.81541	GCG		0.408	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			16	55	0	0	0	1	0	16	55				
RNF111	54778	broad.mit.edu	37	15	59384789	59384789	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59384789G>T	ENST00000557998.1	+	13	3104	c.2817G>T	c.(2815-2817)gaG>gaT	p.E939D	RNF111_ENST00000559209.1_Missense_Mutation_p.E940D|RNF111_ENST00000561186.1_Missense_Mutation_p.E948D|RNF111_ENST00000434298.1_Missense_Mutation_p.E948D|RNF111_ENST00000348370.4_Missense_Mutation_p.E931D	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	939					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAGACACAGAGGAAAAATGTA	0.368																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2791-2793)gaG>gaT		ring finger protein 111							119.0	116.0	117.0					15																	59384789		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59384789G>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2817G>T	15.37:g.59384789G>T	ENSP00000452732:p.Glu939Asp					RNF111_ENST00000559209.1_Missense_Mutation_p.E940D|RNF111_ENST00000434298.1_Missense_Mutation_p.E948D|RNF111_ENST00000557998.1_Missense_Mutation_p.E939D|RNF111_ENST00000561186.1_Missense_Mutation_p.E948D	p.E931D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	13	3226	+			939	E -> G (in Ref. 2; CAD98031).				C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2793G>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809619	0.50421	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.14022	2.54;2.54	5.3	5.3	0.74995	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.11427	0.14	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.988	D;D;D	0.79784	0.993;0.978;0.974	T	0.14090	-1.0485	10	0.31617	T	0.26	-12.6931	12.3289	0.55028	0.0776:0.0:0.9223:0.0	.	948;939;931	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	D	931;948	ENSP00000288199:E931D;ENSP00000393641:E948D	ENSP00000288199:E931D	E	+	3	2	RNF111	57172081	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.569000	0.60865	2.486000	0.83907	0.305000	0.20034	GAG		0.368	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		3	10	1	0	0.00909568	1	0.00947522	3	10				
RGS3	5998	broad.mit.edu	37	9	116346234	116346234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346234G>A	ENST00000374140.2	+	21	2751	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	RGS3_ENST00000343817.5_Missense_Mutation_p.A567T|RGS3_ENST00000462143.1_Missense_Mutation_p.A169T|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.A848T|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.A169T	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	848					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGACCCACCTGCGGCCCCCAG	0.642																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2542-2544)Gcg>Acg		regulator of G-protein signaling 3							49.0	55.0	53.0					9																	116346234		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346234G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2542G>A	9.37:g.116346234G>A	ENSP00000363255:p.Ala848Thr					RGS3_ENST00000350696.5_Missense_Mutation_p.A848T|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Missense_Mutation_p.A169T|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.A567T|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.A169T	p.A848T	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			21	2751	+			848					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2542G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021941	0.35701	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.56941	0.93;0.93;0.44;0.43;0.43	4.58	-2.99	0.05497	.	1.626360	0.03256	N	0.182541	T	0.23451	0.0567	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B	0.28933	0.228;0.082;0.053;0.082;0.049;0.085	B;B;B;B;B;B	0.27796	0.083;0.036;0.022;0.036;0.016;0.026	T	0.05178	-1.0901	10	0.30078	T	0.28	.	0.3835	0.00399	0.2692:0.1325:0.3024:0.2959	.	187;744;169;567;738;848	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	T	848;848;567;169;169	ENSP00000363255:A848T;ENSP00000259406:A848T;ENSP00000340284:A567T;ENSP00000420356:A169T;ENSP00000363249:A169T	ENSP00000340284:A567T	A	+	1	0	RGS3	115386055	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.631000	0.24568	-0.339000	0.08401	0.563000	0.77884	GCG		0.642	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		17	36	0	0	0	1	0	17	36				
GABPA	2551	broad.mit.edu	37	21	27124333	27124333	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27124333T>G	ENST00000354828.3	+	5	868	c.341T>G	c.(340-342)gTt>gGt	p.V114G	GABPA_ENST00000400075.3_Missense_Mutation_p.V114G|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	114					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTTGAAATTGTTAAACCTGCG	0.348																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(340-342)gTt>gGt		GA binding protein transcription factor, alpha subunit 60kDa							57.0	58.0	58.0					21																	27124333		2202	4300	6502	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27124333T>G		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.341T>G	21.37:g.27124333T>G	ENSP00000346886:p.Val114Gly					GABPA_ENST00000400075.3_Missense_Mutation_p.V114G|GABPA_ENST00000487266.1_3'UTR	p.V114G	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			5	868	+			114					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.341T>G	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.267013	0.80469	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.14893	2.47;2.47	4.42	4.42	0.53409	GA-binding protein alpha subunit, N-terminal (1);	0.123171	0.53938	D	0.000042	T	0.32285	0.0824	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.05566	-1.0877	10	0.87932	D	0	.	13.7935	0.63157	0.0:0.0:0.0:1.0	.	114	Q06546	GABPA_HUMAN	G	114	ENSP00000346886:V114G;ENSP00000382948:V114G	ENSP00000346886:V114G	V	+	2	0	GABPA	26046204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.379000	0.79691	1.966000	0.57179	0.533000	0.62120	GTT		0.348	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		28	48	0	0	0	1	0	28	48				
GADL1	339896	broad.mit.edu	37	3	30842578	30842578	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30842578A>G	ENST00000282538.5	-	12	1203	c.1053T>C	c.(1051-1053)gaT>gaC	p.D351D	GADL1_ENST00000454381.3_Silent_p.D351D	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	351					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTTTAAGAAGATCCTTCGAAA	0.353																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(1051-1053)gaT>gaC		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						68.0	62.0	64.0					3																	30842578		2203	4300	6503	SO:0001819	synonymous_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30842578A>G	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1053T>C	3.37:g.30842578A>G						GADL1_ENST00000282538.5_Silent_p.D351D	p.D351D			Q6ZQY3	GADL1_HUMAN			12	1099	-			351						Silent	SNP	ENST00000282538.5	37	c.1053T>C	CCDS2649.2																																																																																				0.353	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		24	40	0	0	0	1	0	24	40				
TMED5	50999	broad.mit.edu	37	1	93621972	93621972	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93621972A>G	ENST00000370282.3	-	3	841	c.356T>C	c.(355-357)gTg>gCg	p.V119A	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000479918.1_Missense_Mutation_p.V119A|TMED5_ENST00000370280.1_Missense_Mutation_p.V119A	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	119	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		AAAGAAAATCACCTTCTCAGA	0.328																																						ENST00000370282.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(355-357)gTg>gCg		transmembrane emp24 protein transport domain containing 5							147.0	142.0	144.0					1																	93621972		2203	4300	6503	SO:0001583	missense	50999				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr1:93621972A>G	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.356T>C	1.37:g.93621972A>G	ENSP00000359305:p.Val119Ala					TMED5_ENST00000479918.1_Missense_Mutation_p.V119A|TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000370280.1_Missense_Mutation_p.V119A	p.V119A	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	3	841	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	119			GOLD.		B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.356T>C	CCDS743.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773237	0.90108	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000535517;ENST00000370280	T;T;T	0.44482	0.92;0.92;0.92	5.77	5.77	0.91146	GOLD (3);	0.056636	0.64402	D	0.000001	T	0.48926	0.1527	M	0.67700	2.07	0.80722	D	1	P;P	0.46064	0.872;0.629	P;P	0.54664	0.758;0.542	T	0.51466	-0.8702	10	0.56958	D	0.05	-24.6602	16.1043	0.81209	1.0:0.0:0.0:0.0	.	119;119	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	A	119;119;68;119	ENSP00000359305:V119A;ENSP00000418992:V119A;ENSP00000359303:V119A	ENSP00000359303:V119A	V	-	2	0	TMED5	93394560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.201000	0.70794	0.528000	0.53228	GTG		0.328	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		7	110	0	0	0	1	0	7	110				
CDC42BPB	9578	broad.mit.edu	37	14	103452906	103452906	+	Missense_Mutation	SNP	G	G	T	rs62006862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103452906G>T	ENST00000361246.2	-	6	896	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GACATTGTCAGGTTTAATGTC	0.383																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(607-609)cCt>cAt		CDC42 binding protein kinase beta (DMPK-like)							176.0	147.0	157.0					14																	103452906		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103452906G>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.608C>A	14.37:g.103452906G>T	ENSP00000355237:p.Pro203His						p.P203H	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	6	896	-		Melanoma(154;0.155)	203			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.608C>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182444	0.94885	.	.	ENSG00000198752	ENST00000361246	T	0.58652	0.32	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93163	0.6559	10	0.87932	D	0	.	19.7828	0.96424	0.0:0.0:1.0:0.0	.	203	Q9Y5S2	MRCKB_HUMAN	H	203	ENSP00000355237:P203H	ENSP00000355237:P203H	P	-	2	0	CDC42BPB	102522659	1.000000	0.71417	0.909000	0.35828	0.998000	0.95712	9.779000	0.99018	2.747000	0.94245	0.650000	0.86243	CCT		0.383	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		9	69	1	0	1.58986e-06	1	1.84011e-06	9	69				
CNNM3	26505	broad.mit.edu	37	2	97494834	97494834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494834G>T	ENST00000305510.3	+	7	2050	c.2022G>T	c.(2020-2022)caG>caT	p.Q674H	CNNM3_ENST00000480035.1_3'UTR|ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.Q626H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	674					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CAGGCAGCCAGACCAGGCTCC	0.597																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(2020-2022)caG>caT		cyclin M3							76.0	77.0	77.0					2																	97494834		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97494834G>T	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.2022G>T	2.37:g.97494834G>T	ENSP00000305449:p.Gln674His					CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Missense_Mutation_p.Q626H|ANKRD23_ENST00000476975.1_Intron	p.Q674H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			7	2050	+			674					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.2022G>T	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950852	0.73787	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.92397	-2.68;-3.03	5.56	4.66	0.58398	.	0.137862	0.49305	N	0.000142	D	0.92554	0.7635	M	0.67953	2.075	0.80722	D	1	D;B	0.53885	0.963;0.004	P;B	0.53809	0.735;0.007	D	0.90815	0.4704	10	0.37606	T	0.19	-11.5457	8.8151	0.34991	0.0798:0.1527:0.7674:0.0	.	626;674	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	H	626;626;674	ENSP00000366260:Q626H;ENSP00000305449:Q674H	ENSP00000305449:Q674H	Q	+	3	2	CNNM3	96858561	0.995000	0.38212	1.000000	0.80357	0.936000	0.57629	1.805000	0.38883	1.303000	0.44873	0.655000	0.94253	CAG		0.597	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		4	37	1	0	0.00024832	1	0.0002712	4	37				
GNA15	2769	broad.mit.edu	37	19	3151734	3151734	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3151734A>G	ENST00000262958.3	+	4	773	c.515A>G	c.(514-516)gAg>gGg	p.E172G	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	172					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGCATCACCGAGGAGGGCTAC	0.632																																						ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(514-516)gAg>gGg		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							116.0	100.0	105.0					19																	3151734		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151734A>G		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.515A>G	19.37:g.3151734A>G	ENSP00000262958:p.Glu172Gly					AC005264.2_ENST00000587587.1_RNA	p.E172G	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	773	+		Hepatocellular(1079;0.137)	172					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.515A>G	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815961	0.32145	.	.	ENSG00000060558	ENST00000262958	D	0.88896	-2.44	4.59	4.59	0.56863	G protein alpha subunit, helical insertion (2);	0.387462	0.24912	U	0.034608	T	0.82185	0.4982	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.70817	-0.4769	10	0.36615	T	0.2	.	11.9342	0.52864	1.0:0.0:0.0:0.0	.	172	P30679	GNA15_HUMAN	G	172	ENSP00000262958:E172G	ENSP00000262958:E172G	E	+	2	0	GNA15	3102734	0.000000	0.05858	0.286000	0.24833	0.973000	0.67179	-0.139000	0.10358	1.701000	0.51217	0.446000	0.29264	GAG		0.632	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		4	119	0	0	0	1	0	4	119				
RAPGEF1	2889	broad.mit.edu	37	9	134497224	134497224	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134497224G>T	ENST00000372189.3	-	11	1936	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L623M|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.L622M	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	605					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGCGGGGCCAGCTCCTGCACG	0.602																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1864-1866)Ctg>Atg		Rap guanine nucleotide exchange factor (GEF) 1							37.0	44.0	42.0					9																	134497224		2024	4163	6187	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134497224G>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1813C>A	9.37:g.134497224G>T	ENSP00000361263:p.Leu605Met					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L605M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L623M	p.L622M			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	11	2107	-		Myeloproliferative disorder(178;0.204)	605					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1864C>A	CCDS48047.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.36|14.36|14.36	2.512356|2.512356|2.512356	0.44660|0.44660|0.44660	.|.|.	.|.|.	ENSG00000107263|ENSG00000107263|ENSG00000107263	ENST00000414781|ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000437236;ENST00000372191;ENST00000357686;ENST00000431470;ENST00000545785|ENST00000419442	.|T;T;T|.	.|0.27890|.	.|1.64;1.64;1.64|.	5.57|5.57|5.57	4.67|4.67|4.67	0.58626|0.58626|0.58626	.|.|.	.|1.554590|.	.|0.03891|.	.|N|.	.|0.278638|.	T|T|T	0.51278|0.51278|0.51278	0.1665|0.1665|0.1665	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.25163|0.25163|0.25163	N|N|N	0.990334|0.990334|0.990334	.|D;D;D;P;D;P;P;D|.	.|0.71674|.	.|0.998;0.983;0.988;0.954;0.998;0.954;0.954;0.973|.	.|P;P;P;P;D;P;P;P|.	.|0.65443|.	.|0.904;0.792;0.804;0.736;0.935;0.736;0.736;0.864|.	T|T|T	0.42965|0.42965|0.42965	-0.9420|-0.9420|-0.9420	5|10|5	.|0.36615|.	.|T|.	.|0.2|.	.|.|.	12.9454|12.9454|12.9454	0.58369|0.58369|0.58369	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.|.	.|19;300;63;585;566;622;605;623|.	.|E7ERR9;E9PDT1;Q5JUE7;C9JL20;Q13905-2;Q68DL3;Q13905;Q13905-3|.	.|.;.;.;.;.;.;RPGF1_HUMAN;.|.	D|M|R	1|605;622;499;605;623;585;531;19;19;300;622;19;19|63	.|ENSP00000361269:L622M;ENSP00000361263:L605M;ENSP00000361264:L623M|.	.|ENSP00000266110:L605M|.	A|L|S	-|-|-	2|1|3	0|2|2	RAPGEF1|RAPGEF1|RAPGEF1	133487045|133487045|133487045	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.138000|0.138000|0.138000	0.21146|0.21146|0.21146	2.776000|2.776000|2.776000	0.47709|0.47709|0.47709	2.619000|2.619000|2.619000	0.88677|0.88677|0.88677	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCT|CTG|AGC		0.602	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		6	11	1	0	2.0095e-06	1	2.31757e-06	6	11				
CELSR1	9620	broad.mit.edu	37	22	46930540	46930540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930540G>A	ENST00000262738.3	-	1	2527	c.2528C>T	c.(2527-2529)aCc>aTc	p.T843I	CELSR1_ENST00000395964.1_Missense_Mutation_p.T843I|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	843	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGTACATGGTGCCACTGTC	0.582																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2527-2529)aCc>aTc		cadherin, EGF LAG seven-pass G-type receptor 1							153.0	132.0	139.0					22																	46930540		2202	4300	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930540G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2528C>T	22.37:g.46930540G>A	ENSP00000262738:p.Thr843Ile					CELSR1_ENST00000395964.1_Missense_Mutation_p.T843I	p.T843I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2527	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	843			Cadherin 6.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2528C>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940685|2.940685	0.52972|0.52972	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.01527	.|4.8;4.8	4.29|4.29	4.29|4.29	0.51040|0.51040	.|Cadherin (5);Cadherin-like (1);	.|0.080948	.|0.49916	.|U	.|0.000135	T|T	0.02807|0.02807	0.0084|0.0084	N|N	0.04090|0.04090	-0.28|-0.28	0.37914|0.37914	D|D	0.931451|0.931451	.|P	.|0.51147	.|0.942	.|P	.|0.57960	.|0.83	T|T	0.68565|0.68565	-0.5375|-0.5375	5|10	.|0.66056	.|D	.|0.02	.|.	16.5638|16.5638	0.84573|0.84573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|843	.|Q9NYQ6	.|CELR1_HUMAN	S|I	218|843	.|ENSP00000262738:T843I;ENSP00000379293:T843I	.|ENSP00000262738:T843I	P|T	-|-	1|2	0|0	CELSR1|CELSR1	45309204|45309204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.561000|0.561000	0.35649|0.35649	5.167000|5.167000	0.64972|0.64972	2.228000|2.228000	0.72767|0.72767	0.305000|0.305000	0.20034|0.20034	CCA|ACC		0.582	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		22	44	0	0	0	1	0	22	44				
FRK	2444	broad.mit.edu	37	6	116263743	116263743	+	Missense_Mutation	SNP	C	C	A	rs12209851	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116263743C>A	ENST00000606080.1	-	8	1798	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	FRK_ENST00000538210.1_Missense_Mutation_p.R309I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTGCGGAAGTCTATAGTTTTG	0.423																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1351-1353)aGa>aTa		fyn-related kinase							132.0	121.0	125.0					6																	116263743		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263743C>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1352G>T	6.37:g.116263743C>A	ENSP00000476145:p.Arg451Ile					FRK_ENST00000538210.1_Missense_Mutation_p.R309I	p.R451I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1798	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	451			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1352G>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268387	0.59540	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.85411	-1.98;-1.98	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.93729	0.7996	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94154	0.7408	10	0.87932	D	0	.	19.9273	0.97107	0.0:1.0:0.0:0.0	.	451	P42685	FRK_HUMAN	I	451;309	ENSP00000357615:R451I;ENSP00000443075:R309I	ENSP00000357615:R451I	R	-	2	0	FRK	116370436	1.000000	0.71417	0.997000	0.53966	0.062000	0.15995	7.818000	0.86416	2.718000	0.92993	0.591000	0.81541	AGA		0.423	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		9	106	1	0	0.00448238	1	0.00472561	9	106				
B4GALT4	8702	broad.mit.edu	37	3	118935107	118935107	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118935107G>A	ENST00000483209.1	-	7	1523	c.882C>T	c.(880-882)ggC>ggT	p.G294G	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000393765.2_Silent_p.G294G|B4GALT4_ENST00000467604.1_Silent_p.G294G|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Silent_p.G294G			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCACCTCATTGCCTTTGTCTC	0.453																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(880-882)ggC>ggT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						120.0	112.0	115.0					3																	118935107		2203	4300	6503	SO:0001819	synonymous_variant	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118935107G>A	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.882C>T	3.37:g.118935107G>A						B4GALT4_ENST00000393765.2_Silent_p.G294G|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.G294G|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Silent_p.G294G	p.G294G			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	7	1273	-			294					Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	c.882C>T	CCDS2986.1																																																																																				0.453	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		11	31	0	0	0	1	0	11	31				
PPHLN1	51535	broad.mit.edu	37	12	42729720	42729720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729720C>T	ENST00000395568.2	+	2	100	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PPHLN1_ENST00000549190.1_Nonsense_Mutation_p.R24*|PPHLN1_ENST00000395580.3_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000449194.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000358314.7_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000552761.1_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000432191.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000317560.9_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000337898.6_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	6					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GTCTGAGGGACGATATGAATA	0.378																																						ENST00000432191.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(16-18)Cga>Tga		periphilin 1							132.0	135.0	134.0					12																	42729720		2203	4300	6503	SO:0001587	stop_gained	51535				keratinization	cytoplasm|nucleus		g.chr12:42729720C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.16C>T	12.37:g.42729720C>T	ENSP00000378935:p.Arg6*					PPHLN1_ENST00000449194.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000549190.1_Nonsense_Mutation_p.R24*|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000317560.9_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000337898.6_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000395580.3_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000395568.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000552761.1_Nonsense_Mutation_p.R13*	p.R6*	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	2	88	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	0					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Nonsense_Mutation	SNP	ENST00000395568.2	37	c.16C>T	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663055	0.96745	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191;ENST00000546750;ENST00000547847	.	.	.	5.34	4.44	0.53790	.	0.189322	0.38837	N	0.001543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4189	11.5695	0.50826	0.1779:0.8221:0.0:0.0	.	.	.	.	X	24;13;6;6;6;6;13;13;6;13;6	.	ENSP00000322048:R13X	R	+	1	2	PPHLN1	41015987	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.512000	0.45485	1.606000	0.50161	0.650000	0.86243	CGA		0.378	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		36	40	0	0	0	1	0	36	40				
OR4C15	81309	broad.mit.edu	37	11	55321882	55321882	+	Missense_Mutation	SNP	C	C	T	rs369843914		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321882C>T	ENST00000314644.2	+	1	100	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCAAATTTTCCTTTGTCCTAA	0.368										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(100-102)Ctt>Ttt		olfactory receptor, family 4, subfamily C, member 15		C	PHE/LEU	1,4401	2.1+/-5.4	0,1,2200	161.0	160.0	160.0		100	-2.1	0.0	11		160	0,8592		0,0,4296	no	missense	OR4C15	NM_001001920.1	22	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		34/371	55321882	1,12993	2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321882C>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.100C>T	11.37:g.55321882C>T	ENSP00000324958:p.Leu34Phe	HNSCC(20;0.049)					p.L34F	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	100	+			0					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.100C>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714600	0.30413	2.27E-4	0.0	ENSG00000181939	ENST00000314644	T	0.00005	9.77	4.79	-2.12	0.07165	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.01762	-1.1279	6	0.59425	D	0.04	.	0.6322	0.00796	0.2563:0.3542:0.133:0.2565	.	.	.	.	F	34	ENSP00000324958:L34F	ENSP00000324958:L34F	L	+	1	0	OR4C15	55078458	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.799000	0.01746	-0.284000	0.09102	0.385000	0.25706	CTT		0.368	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		51	105	0	0	0	1	0	51	105				
BTG4	54766	broad.mit.edu	37	11	111369364	111369364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111369364C>T	ENST00000356018.2	-	2	337	c.138G>A	c.(136-138)tgG>tgA	p.W46*	BTG4_ENST00000525791.1_Nonsense_Mutation_p.W46*	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	46					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		AATCAGAGTGCCAGTGACTTC	0.433																																						ENST00000525791.1																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(136-138)tgG>tgA		B-cell translocation gene 4							118.0	104.0	109.0					11																	111369364		2201	4297	6498	SO:0001587	stop_gained	54766				cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			g.chr11:111369364C>T	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.138G>A	11.37:g.111369364C>T	ENSP00000348300:p.Trp46*					BTG4_ENST00000356018.2_Nonsense_Mutation_p.W46*	p.W46*			Q9NY30	BTG4_HUMAN		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	2	322	-		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	46					Q8NEH7	Nonsense_Mutation	SNP	ENST00000356018.2	37	c.138G>A	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669868	0.96754	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9292	0.92558	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000348300:W46X	W	-	3	0	BTG4	110874574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.676000	0.74498	2.585000	0.87301	0.591000	0.81541	TGG		0.433	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1			18	33	0	0	0	1	0	18	33				
OR2T10	127069	broad.mit.edu	37	1	248756983	248756983	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756983C>T	ENST00000330500.2	-	1	117	c.87G>A	c.(85-87)ttG>ttA	p.L29L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAGATAAGCAAGCAGAGGC	0.473																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(85-87)ttG>ttA		olfactory receptor, family 2, subfamily T, member 10							44.0	48.0	46.0					1																	248756983		2044	4233	6277	SO:0001819	synonymous_variant	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756983C>T		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.87G>A	1.37:g.248756983C>T							p.L29L	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	117	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		29					B2RNK7	Silent	SNP	ENST00000330500.2	37	c.87G>A	CCDS31121.1																																																																																				0.473	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		6	43	0	0	0	1	0	6	43				
MSH3	4437	broad.mit.edu	37	5	80160632	80160632	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80160632G>T	ENST00000265081.6	+	22	3081	c.3001G>T	c.(3001-3003)Gtg>Ttg	p.V1001L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1001					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTGCTTTAGGTGAAATCCTT	0.313								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e22-1	Mismatch excision repair (MMR)	mutS homolog 3							75.0	72.0	73.0					5																	80160632		2203	4300	6503	SO:0001630	splice_region_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80160632G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3001-1G>T	5.37:g.80160632G>T							p.V1001_splice	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	22	3081	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	1001					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Splice_Site	SNP	ENST00000265081.6	37	c.3000_splice	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718782	0.68844	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85411	-1.98	5.88	5.88	0.94601	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	L	0.28556	0.865	0.80722	D	1	P	0.48998	0.918	P	0.50825	0.651	T	0.82275	-0.0538	9	.	.	.	-18.2182	20.2371	0.98361	0.0:0.0:1.0:0.0	.	1001	P20585	MSH3_HUMAN	L	1001;992	ENSP00000265081:V1001L	.	V	+	1	0	MSH3	80196388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.031000	0.88826	2.788000	0.95919	0.555000	0.69702	GTG		0.313	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	Missense_Mutation	4	46	1	0	0.00909568	1	0.00947522	4	46				
BIRC6	57448	broad.mit.edu	37	2	32735686	32735686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32735686C>A	ENST00000421745.2	+	53	10465	c.10331C>A	c.(10330-10332)cCt>cAt	p.P3444H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3444					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTCAGGATCCTGGTACAAAA	0.338																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10330-10332)cCt>cAt		baculoviral IAP repeat containing 6							131.0	139.0	136.0					2																	32735686		2203	4299	6502	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32735686C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10331C>A	2.37:g.32735686C>A	ENSP00000393596:p.Pro3444His						p.P3444H	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			53	10465	+	Acute lymphoblastic leukemia(172;0.155)		3444					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10331C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700010	0.68501	.	.	ENSG00000115760	ENST00000421745	T	0.73897	-0.79	5.83	5.83	0.93111	.	0.259114	0.39544	N	0.001330	T	0.68284	0.2984	N	0.22421	0.69	0.47476	D	0.999434	B	0.28512	0.214	B	0.33196	0.159	T	0.66337	-0.5949	10	0.59425	D	0.04	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	3444	Q9NR09	BIRC6_HUMAN	H	3444	ENSP00000393596:P3444H	ENSP00000393596:P3444H	P	+	2	0	BIRC6	32589190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.976000	0.70484	2.770000	0.95276	0.655000	0.94253	CCT		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	117	1	0	0.000442599	1	0.00048047	9	117				
DAB2	1601	broad.mit.edu	37	5	39375182	39375182	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39375182G>T	ENST00000320816.6	-	14	2719	c.2252C>A	c.(2251-2253)gCt>gAt	p.A751D	DAB2_ENST00000339788.6_Missense_Mutation_p.A533D|DAB2_ENST00000509337.1_Missense_Mutation_p.A730D|DAB2_ENST00000545653.1_Missense_Mutation_p.A730D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	751	Required for interaction with MYO6. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAGAAGAAGCCACCTAAGA	0.343																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(2251-2253)gCt>gAt		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							91.0	96.0	95.0					5																	39375182		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39375182G>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2252C>A	5.37:g.39375182G>T	ENSP00000313391:p.Ala751Asp					DAB2_ENST00000545653.1_Missense_Mutation_p.A730D|DAB2_ENST00000339788.6_Missense_Mutation_p.A533D|DAB2_ENST00000509337.1_Missense_Mutation_p.A730D	p.A751D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		14	2719	-	all_lung(31;0.000197)		751			Required for interaction with MYO6 (By similarity).		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.2252C>A	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	0.618	-0.822350	0.02755	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.4	0.88	0.19161	.	1.327740	0.05158	N	0.497185	T	0.27313	0.0670	L	0.34521	1.04	0.09310	N	1	B;B	0.27416	0.059;0.178	B;B	0.30029	0.022;0.11	T	0.27839	-1.0062	10	0.32370	T	0.25	1.7569	4.2914	0.10879	0.324:0.0:0.5157:0.1604	.	751;730	P98082;P98082-3	DAB2_HUMAN;.	D	751;533;730;730	ENSP00000313391:A751D;ENSP00000345508:A533D;ENSP00000439919:A730D;ENSP00000426245:A730D	ENSP00000313391:A751D	A	-	2	0	DAB2	39410939	0.000000	0.05858	0.011000	0.14972	0.427000	0.31564	0.325000	0.19628	0.312000	0.23038	0.655000	0.94253	GCT		0.343	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		6	55	1	0	0.0215528	1	0.0221649	6	55				
RNF10	9921	broad.mit.edu	37	12	120995485	120995485	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995485G>T	ENST00000325954.4	+	6	1428	c.967G>T	c.(967-969)Gat>Tat	p.D323Y	RNF10_ENST00000413266.2_Splice_Site_p.D323Y	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	323					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCTAGGAGGTGAGTTCTT	0.428																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.e6+1		ring finger protein 10							176.0	155.0	162.0					12																	120995485		2203	4300	6503	SO:0001630	splice_region_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995485G>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.967+1G>T	12.37:g.120995485G>T						RNF10_ENST00000413266.2_Splice_Site_p.D323_splice	p.D323_splice	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			6	1428	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		323					Q92550|Q9NPP8|Q9ULW4	Splice_Site	SNP	ENST00000325954.4	37	c.967_splice	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.073191|4.073191	0.76415|0.76415	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266|ENST00000542207;ENST00000541955	D;D|.	0.90732|.	-2.72;-2.72|.	6.04|6.04	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73613|0.73613	0.3609|0.3609	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.74051|0.74051	-0.3789|-0.3789	10|5	0.87932|.	D|.	0|.	.|.	15.4494|15.4494	0.75262|0.75262	0.0663:0.0:0.9337:0.0|0.0663:0.0:0.9337:0.0	.|.	323;323|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	Y|D	323|120;115	ENSP00000322242:D323Y;ENSP00000415682:D323Y|.	ENSP00000322242:D323Y|.	D|E	+|+	1|3	0|2	RNF10|RNF10	119479868|119479868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	9.869000|9.869000	0.99810|0.99810	1.571000|1.571000	0.49722|0.49722	0.563000|0.563000	0.77884|0.77884	GAT|GAG		0.428	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4		Missense_Mutation	11	118	1	0	2.27111e-07	1	2.66951e-07	11	118				
TCTN2	79867	broad.mit.edu	37	12	124179474	124179474	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124179474T>C	ENST00000303372.5	+	10	1313	c.1185T>C	c.(1183-1185)agT>agC	p.S395S	TCTN2_ENST00000426174.2_Silent_p.S394S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	395					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATACCATCAGTGAAATAAATG	0.318																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1183-1185)agT>agC		tectonic family member 2							47.0	53.0	51.0					12																	124179474		2200	4300	6500	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124179474T>C	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1185T>C	12.37:g.124179474T>C						TCTN2_ENST00000426174.2_Silent_p.S394S	p.S395S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	10	1313	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		395					A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.1185T>C	CCDS9253.1																																																																																				0.318	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		12	69	0	0	0	1	0	12	69				
MTMR14	64419	broad.mit.edu	37	3	9714435	9714435	+	Silent	SNP	G	G	A	rs533653482	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714435G>A	ENST00000296003.4	+	7	866	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MTMR14_ENST00000351233.5_Silent_p.P248P|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.P248P	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	248					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTCCATCCCGTATCCAGGTA	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.002					ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(742-744)ccG>ccA		myotubularin related protein 14							128.0	124.0	125.0					3																	9714435		1960	4140	6100	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9714435G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.744G>A	3.37:g.9714435G>A						MTMR14_ENST00000351233.5_Silent_p.P248P|MTMR14_ENST00000353332.5_Silent_p.P248P|MTMR14_ENST00000420925.1_Intron	p.P248P	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			7	866	+	Medulloblastoma(99;0.227)		248					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.744G>A	CCDS43043.1																																																																																				0.552	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		35	58	0	0	0	1	0	35	58				
DYNLT1	6993	broad.mit.edu	37	6	159058914	159058914	+	Missense_Mutation	SNP	C	C	T	rs142843740		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159058914C>T	ENST00000367089.3	-	3	112	c.82G>A	c.(82-84)Gca>Aca	p.A28T	DYNLT1_ENST00000367085.3_Missense_Mutation_p.A28T|DYNLT1_ENST00000367088.1_5'UTR	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	28					establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCACCAATTGCGCTTTCTATA	0.463																																						ENST00000367085.3																			0				lung(2)	2						c.(82-84)Gca>Aca		dynein, light chain, Tctex-type 1		C	THR/ALA	0,4406		0,0,2203	155.0	139.0	144.0		82	3.9	0.6	6	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	DYNLT1	NM_006519.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	28/114	159058914	1,13005	2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	g.chr6:159058914C>T	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"""Cytoplasmic dyneins"""	11697	protein-coding gene	gene with protein product		601554	"""t-complex-associated-testis-expressed 1-like 1"""	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.82G>A	6.37:g.159058914C>T	ENSP00000356056:p.Ala28Thr					DYNLT1_ENST00000367088.1_5'UTR|DYNLT1_ENST00000367089.3_Missense_Mutation_p.A28T	p.A28T			P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	3	111	-		Breast(66;0.00519)|Ovarian(120;0.123)	28					Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.82G>A	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899155	0.33535	0.0	1.16E-4	ENSG00000146425	ENST00000367089;ENST00000367085	T;T	0.30182	1.54;1.54	4.83	3.89	0.44902	.	0.206513	0.42294	D	0.000732	T	0.04092	0.0114	N	0.02985	-0.445	0.34047	D	0.655696	B	0.06786	0.001	B	0.08055	0.003	T	0.34750	-0.9816	10	0.13108	T	0.6	-39.2362	8.7209	0.34441	0.1517:0.7687:0.0:0.0796	.	28	P63172	DYLT1_HUMAN	T	28	ENSP00000356056:A28T;ENSP00000356052:A28T	ENSP00000356052:A28T	A	-	1	0	DYNLT1	158978902	0.965000	0.33210	0.637000	0.29366	0.707000	0.40811	2.478000	0.45189	2.384000	0.81235	0.655000	0.94253	GCA		0.463	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		25	50	0	0	0	1	0	25	50				
LRRIQ1	84125	broad.mit.edu	37	12	85638665	85638665	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85638665C>T	ENST00000393217.2	+	27	5176	c.5115C>T	c.(5113-5115)caC>caT	p.H1705H	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1705										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGGCACACAGACACTCAG	0.378																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(5113-5115)caC>caT		leucine-rich repeats and IQ motif containing 1							90.0	83.0	85.0					12																	85638665		1843	4092	5935	SO:0001819	synonymous_variant	84125							g.chr12:85638665C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.5115C>T	12.37:g.85638665C>T						LRRIQ1_ENST00000528777.3_3'UTR	p.H1705H	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	27	5176	+			1705					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.5115C>T	CCDS41816.1																																																																																				0.378	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		25	31	0	0	0	1	0	25	31				
TSC22D1	8848	broad.mit.edu	37	13	45008933	45008933	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45008933A>G	ENST00000458659.2	-	3	3541	c.3051T>C	c.(3049-3051)aaT>aaC	p.N1017N	RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000261489.2_Silent_p.N88N|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1017	Leucine-zipper.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCAGCTGGGAATTTTTCTCTA	0.502																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3049-3051)aaT>aaC		TSC22 domain family, member 1							73.0	81.0	79.0					13																	45008933		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45008933A>G	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3051T>C	13.37:g.45008933A>G						TSC22D1_ENST00000261489.2_Silent_p.N88N|TSC22D1_ENST00000501704.2_Intron	p.N1017N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	3	3541	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	1017			Leucine-zipper.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.3051T>C	CCDS31966.1																																																																																				0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		10	83	0	0	0	1	0	10	83				
KIAA1407	57577	broad.mit.edu	37	3	113697048	113697048	+	Missense_Mutation	SNP	G	G	A	rs145062166	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113697048G>A	ENST00000295878.3	-	16	2737	c.2591C>T	c.(2590-2592)gCg>gTg	p.A864V		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	864										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACTGTGCTCCGCTGCAATCTC	0.423													G|||	9	0.00179712	0.0008	0.0043	5008	,	,		19867	0.0		0.003	False		,,,				2504	0.002					ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2590-2592)gCg>gTg		KIAA1407		G	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	129.0	124.0	126.0		2591	-1.1	0.0	3	dbSNP_134	126	57,8543	35.9+/-90.5	0,57,4243	yes	missense	KIAA1407	NM_020817.1	64	0,61,6442	AA,AG,GG		0.6628,0.0908,0.469	benign	864/937	113697048	61,12945	2203	4300	6503	SO:0001583	missense	57577							g.chr3:113697048G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2591C>T	3.37:g.113697048G>A	ENSP00000295878:p.Ala864Val						p.A864V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			16	2737	-			864					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2591C>T	CCDS2977.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	G	11.31	1.600703	0.28534	9.08E-4	0.006628	ENSG00000163617	ENST00000295878	T	0.31247	1.5	5.03	-1.11	0.09840	.	0.833897	0.10880	N	0.623869	T	0.05593	0.0147	N	0.02142	-0.665	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.33904	-0.9850	10	0.02654	T	1	.	5.4527	0.16574	0.5304:0.0:0.334:0.1356	.	864	Q8NCU4	K1407_HUMAN	V	864	ENSP00000295878:A864V	ENSP00000295878:A864V	A	-	2	0	KIAA1407	115179738	0.000000	0.05858	0.000000	0.03702	0.840000	0.47671	-0.931000	0.03967	-0.269000	0.09298	-0.145000	0.13849	GCG		0.423	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		30	56	0	0	0	1	0	30	56				
BMP1	649	broad.mit.edu	37	8	22056812	22056812	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22056812A>G	ENST00000306385.5	+	15	2777				BMP1_ENST00000306349.8_Intron|BMP1_ENST00000354870.5_Intron|BMP1_ENST00000397816.3_Silent_p.R795R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACACCCACCGAGGAGACCCTA	0.622																																						ENST00000397816.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2383-2385)cgA>cgG		bone morphogenetic protein 1							54.0	66.0	62.0					8																	22056812		2203	4300	6503	SO:0001627	intron_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22056812A>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2107+1879A>G	8.37:g.22056812A>G						BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000306385.5_Intron	p.R795R			P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	16	2604	+			0			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2385A>G	CCDS6026.1																																																																																				0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		9	66	0	0	0	1	0	9	66				
ZNF16	7564	broad.mit.edu	37	8	146156226	146156226	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156226C>A	ENST00000276816.4	-	4	2133	c.1947G>T	c.(1945-1947)agG>agT	p.R649S	ZNF16_ENST00000394909.2_Missense_Mutation_p.R649S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	649					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAGTGTGAATCCTCTGGTGCT	0.522																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1945-1947)agG>agT		zinc finger protein 16							135.0	131.0	132.0					8																	146156226		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156226C>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1947G>T	8.37:g.146156226C>A	ENSP00000276816:p.Arg649Ser					ZNF16_ENST00000394909.2_Missense_Mutation_p.R649S	p.R649S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	2133	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	649					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1947G>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811245	0.50527	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.24151	1.87;1.87	3.64	1.59	0.23543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44623	0.1302	M	0.76002	2.32	0.27018	N	0.964526	D	0.89917	1.0	D	0.91635	0.999	T	0.21042	-1.0257	9	0.87932	D	0	.	4.2939	0.10892	0.0:0.4828:0.0:0.5172	.	649	P17020	ZNF16_HUMAN	S	649	ENSP00000276816:R649S;ENSP00000378369:R649S	ENSP00000276816:R649S	R	-	3	2	ZNF16	146127030	0.000000	0.05858	0.982000	0.44146	0.779000	0.44077	-0.420000	0.07062	0.745000	0.32763	0.313000	0.20887	AGG		0.522	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		7	101	1	0	2.7689e-08	1	3.31013e-08	7	101				
CCDC134	79879	broad.mit.edu	37	22	42206291	42206291	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42206291G>T	ENST00000255784.5	+	4	410	c.306G>T	c.(304-306)aaG>aaT	p.K102N	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	102						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAAGCTGAAGGATGGTATGG	0.617																																						ENST00000255784.5																			0				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						c.(304-306)aaG>aaT		coiled-coil domain containing 134							84.0	59.0	68.0					22																	42206291		2203	4300	6503	SO:0001583	missense	79879					extracellular region		g.chr22:42206291G>T	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.306G>T	22.37:g.42206291G>T	ENSP00000255784:p.Lys102Asn					CCDC134_ENST00000402061.3_Intron	p.K102N	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN			4	410	+			102						Missense_Mutation	SNP	ENST00000255784.5	37	c.306G>T	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491805	0.84962	.	.	ENSG00000100147	ENST00000255784	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78575	-0.2151	9	0.72032	D	0.01	-34.0977	13.1283	0.59368	0.0733:0.0:0.9267:0.0	.	102	Q9H6E4	CC134_HUMAN	N	102	.	ENSP00000255784:K102N	K	+	3	2	CCDC134	40536237	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.904000	0.48719	2.779000	0.95612	0.655000	0.94253	AAG		0.617	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		5	14	1	0	0.184627	1	0.186383	5	14				
PELI3	246330	broad.mit.edu	37	11	66235654	66235654	+	Missense_Mutation	SNP	C	C	T	rs200681148		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66235654C>T	ENST00000320740.7	+	2	215	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	MRPL11_ENST00000524576.1_5'Flank|PELI3_ENST00000524466.1_Missense_Mutation_p.H19Y|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Missense_Mutation_p.H19Y	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	19					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGACCTCCAGCACCGGGGGAA	0.597																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(55-57)Cac>Tac		pellino E3 ubiquitin protein ligase family member 3							56.0	59.0	58.0					11																	66235654		2200	4295	6495	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66235654C>T	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.55C>T	11.37:g.66235654C>T	ENSP00000322532:p.His19Tyr					PELI3_ENST00000524466.1_Missense_Mutation_p.H19Y|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Missense_Mutation_p.H19Y	p.H19Y	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			2	339	+			19					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.55C>T	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947108	0.73672	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000527230	T;T	0.44881	0.95;0.91	5.13	5.13	0.70059	.	0.144865	0.47455	D	0.000230	T	0.41305	0.1153	L	0.36672	1.1	0.38719	D	0.953408	B;B;D	0.52996	0.053;0.063;0.957	B;B;P	0.48454	0.027;0.01;0.578	T	0.36138	-0.9760	10	0.40728	T	0.16	-25.7613	14.0673	0.64839	0.0:1.0:0.0:0.0	.	19;19;19	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	Y	19	ENSP00000309848:H19Y;ENSP00000322532:H19Y	ENSP00000322532:H19Y	H	+	1	0	PELI3	65992230	1.000000	0.71417	0.996000	0.52242	0.546000	0.35178	2.804000	0.47931	2.410000	0.81850	0.491000	0.48974	CAC		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		10	50	0	0	0	1	0	10	50				
FAT3	120114	broad.mit.edu	37	11	92534102	92534102	+	Silent	SNP	C	C	T	rs376936376		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92534102C>T	ENST00000298047.6	+	9	7940	c.7923C>T	c.(7921-7923)agC>agT	p.S2641S	FAT3_ENST00000525166.1_Silent_p.S2491S|FAT3_ENST00000409404.2_Silent_p.S2641S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2641	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2641S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTCTATAGCGAGGCCTCTG	0.473										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - coding silent(2)	p.S2641S(2)	large_intestine(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7921-7923)agC>agT		FAT atypical cadherin 3		C		2,3786		0,2,1892	37.0	36.0	36.0		7923	-9.7	0.5	11		36	0,8214		0,0,4107	no	coding-synonymous	FAT3	NM_001008781.2		0,2,5999	TT,TC,CC		0.0,0.0528,0.0167		2641/4558	92534102	2,12000	1894	4107	6001	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534102C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7923C>T	11.37:g.92534102C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.S2491S|FAT3_ENST00000409404.2_Silent_p.S2641S	p.S2641S			Q8TDW7	FAT3_HUMAN			9	7940	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2641			Cadherin 24.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7923C>T																																																																																					0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	15	0	0	0	1	0	4	15				
MARCH5	54708	broad.mit.edu	37	10	94109579	94109579	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94109579A>G	ENST00000358935.2	+	5	1037	c.705A>G	c.(703-705)ttA>ttG	p.L235L		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	235					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACTCTAATTTACAAAGGACAA	0.343																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(703-705)ttA>ttG		membrane-associated ring finger (C3HC4) 5							116.0	111.0	113.0					10																	94109579		2203	4300	6503	SO:0001819	synonymous_variant	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109579A>G	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.705A>G	10.37:g.94109579A>G							p.L235L	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			5	1037	+			235						Silent	SNP	ENST00000358935.2	37	c.705A>G	CCDS7420.1																																																																																				0.343	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		40	68	0	0	0	1	0	40	68				
PPT2	9374	broad.mit.edu	37	6	32125413	32125413	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32125413G>T	ENST00000324816.6	+	6	1109		c.e6-1		PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PPT2-EGFL8_ENST00000422437.1_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000445576.2_Splice_Site			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2						cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TTTGTACCCAGATCCCCACCA	0.498																																						ENST00000422437.1																			0											c.e6-1									91.0	81.0	84.0					6																	32125413		1511	2709	4220	SO:0001630	splice_region_variant	0							g.chr6:32125413G>T	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.542-1G>T	6.37:g.32125413G>T						PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000324816.6_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site								6	732	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Splice_Site	SNP	ENST00000324816.6	37		CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455213	0.26161	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2564	0.87057	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPT2	32233391	1.000000	0.71417	0.997000	0.53966	0.101000	0.19017	8.464000	0.90380	2.739000	0.93911	0.467000	0.42956	.		0.498	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	Intron	5	32	1	0	1.23904e-05	1	1.39987e-05	5	32				
EBNA1BP2	10969	broad.mit.edu	37	1	43630358	43630358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43630358C>T	ENST00000236051.2	-	8	967	c.826G>A	c.(826-828)Gct>Act	p.A276T	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.A331T	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	276					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCATGAGCTGTCTTGGCC	0.537																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(991-993)Gct>Act		EBNA1 binding protein 2							74.0	72.0	73.0					1																	43630358		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630358C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.826G>A	1.37:g.43630358C>T	ENSP00000236051:p.Ala276Thr					EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A276T	p.A331T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			9	1139	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	276					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.991G>A	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244228	0.59103	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.44881	0.91;0.91	5.3	4.39	0.52855	.	0.050530	0.85682	D	0.000000	T	0.64516	0.2605	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	T	0.66850	-0.5819	10	0.39692	T	0.17	-7.7974	14.324	0.66507	0.0:0.9281:0.0:0.0719	.	276;276	Q6IB29;Q99848	.;EBP2_HUMAN	T	331;276	ENSP00000407323:A331T;ENSP00000236051:A276T	ENSP00000236051:A276T	A	-	1	0	EBNA1BP2	43402945	1.000000	0.71417	0.757000	0.31301	0.015000	0.08874	7.335000	0.79234	1.392000	0.46585	0.446000	0.29264	GCT		0.537	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			21	38	0	0	0	1	0	21	38				
MAP7	9053	broad.mit.edu	37	6	136698913	136698913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136698913G>T	ENST00000354570.3	-	7	1141	c.731C>A	c.(730-732)gCt>gAt	p.A244D	MAP7_ENST00000544465.1_Missense_Mutation_p.A229D|MAP7_ENST00000454590.1_Missense_Mutation_p.A266D|MAP7_ENST00000438100.2_Missense_Mutation_p.A229D|MAP7_ENST00000432797.2_Missense_Mutation_p.A98D	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	244					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGACAAGGCAGCTGTGCTTTT	0.517																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(730-732)gCt>gAt		microtubule-associated protein 7							108.0	93.0	98.0					6																	136698913		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136698913G>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.731C>A	6.37:g.136698913G>T	ENSP00000346581:p.Ala244Asp					MAP7_ENST00000454590.1_Missense_Mutation_p.A266D|MAP7_ENST00000544465.1_Missense_Mutation_p.A229D|MAP7_ENST00000432797.2_Missense_Mutation_p.A98D|MAP7_ENST00000438100.2_Missense_Mutation_p.A229D	p.A244D	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	7	1141	-	Colorectal(23;0.24)		244					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.731C>A	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528495	0.64860	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.57	5.57	0.84162	.	0.000000	0.56097	D	0.000023	T	0.29223	0.0727	M	0.82056	2.57	0.41873	D	0.990285	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.998;1.0;0.999;0.999	D;D;D;D;P;D;D;D	0.77004	0.96;0.96;0.982;0.96;0.852;0.989;0.982;0.96	T	0.01684	-1.1296	10	0.41790	T	0.15	-16.3266	19.555	0.95342	0.0:0.0:1.0:0.0	.	229;266;229;266;266;150;207;244	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	D	244;266;229;229;98;150	ENSP00000346581:A244D;ENSP00000414712:A266D;ENSP00000445737:A229D;ENSP00000400790:A229D;ENSP00000414879:A98D	ENSP00000344217:A150D	A	-	2	0	MAP7	136740606	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	4.624000	0.61254	2.640000	0.89533	0.655000	0.94253	GCT		0.517	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		22	15	1	0	5.45024e-15	1	6.98109e-15	22	15				
SYTL2	54843	broad.mit.edu	37	11	85437295	85437295	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85437295C>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.A69S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.A69S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.A593S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGCACCTCTGCTTCATGGGTA	0.373																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1777-1779)Gca>Tca		synaptotagmin-like 2							172.0	167.0	169.0					11																	85437295		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85437295C>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1643G>T	11.37:g.85437295C>A						SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.A69S|SYTL2_ENST00000525423.1_Missense_Mutation_p.A69S	p.A593S	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	1776	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	105			Ser-rich.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1777G>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	4.250	0.045478	0.08196	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.26223	1.75;1.75;1.75	5.91	1.82	0.25136	.	1.556930	0.03925	N	0.284231	T	0.16599	0.0399	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18968	0.032;0.017;0.017	B;B;B	0.13407	0.009;0.009;0.009	T	0.23013	-1.0200	9	.	.	.	0.1552	4.8422	0.13496	0.1488:0.5475:0.0:0.3036	.	69;69;69	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	S	593;69;69	ENSP00000352065:A593S;ENSP00000346576:A69S;ENSP00000432694:A69S	.	A	-	1	0	SYTL2	85114943	0.000000	0.05858	0.099000	0.21106	0.017000	0.09413	-0.114000	0.10757	0.059000	0.16252	-0.182000	0.12963	GCA		0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		43	98	1	0	2.59497e-14	1	3.30969e-14	43	98				
HVCN1	84329	broad.mit.edu	37	12	111099218	111099218	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111099218C>A	ENST00000356742.5	-	3	810	c.57G>T	c.(55-57)gaG>gaT	p.E19D	HVCN1_ENST00000548312.1_Missense_Mutation_p.E19D|HVCN1_ENST00000439744.2_5'UTR|HVCN1_ENST00000242607.8_Missense_Mutation_p.E19D			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	19					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGCTCATCCTCTCAGCGGGAG	0.577																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(55-57)gaG>gaT		hydrogen voltage-gated channel 1							66.0	61.0	63.0					12																	111099218		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099218C>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.57G>T	12.37:g.111099218C>A	ENSP00000349181:p.Glu19Asp					HVCN1_ENST00000548312.1_Missense_Mutation_p.E19D|HVCN1_ENST00000242607.8_Missense_Mutation_p.E19D|HVCN1_ENST00000439744.2_5'UTR	p.E19D			Q96D96	HVCN1_HUMAN			3	810	-			19					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.57G>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	11.21	1.570428	0.28003	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000546713	T;T;T	0.46451	0.87;0.87;0.87	5.06	2.23	0.28157	.	0.498794	0.18655	N	0.134881	T	0.36826	0.0981	L	0.57536	1.79	0.18873	N	0.999988	B;B	0.25809	0.083;0.135	B;B	0.27715	0.023;0.082	T	0.31081	-0.9956	10	0.52906	T	0.07	-18.3813	7.4238	0.27088	0.0:0.5932:0.3193:0.0875	.	19;19	Q96D96;Q96D96-3	HVCN1_HUMAN;.	D	19	ENSP00000449601:E19D;ENSP00000242607:E19D;ENSP00000349181:E19D	ENSP00000242607:E19D	E	-	3	2	HVCN1	109583601	0.842000	0.29525	0.637000	0.29366	0.362000	0.29581	1.349000	0.33998	0.307000	0.22880	0.457000	0.33378	GAG		0.577	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		4	35	1	0	0.014758	1	0.0152625	4	35				
ZNF613	79898	broad.mit.edu	37	19	52448086	52448086	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448086G>A	ENST00000293471.6	+	6	1629	c.950G>A	c.(949-951)gGa>gAa	p.G317E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G281E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACATGGATGCAGCCTG	0.458																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(949-951)gGa>gAa		zinc finger protein 613							72.0	76.0	74.0					19																	52448086		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448086G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.950G>A	19.37:g.52448086G>A	ENSP00000293471:p.Gly317Glu					ZNF613_ENST00000391794.4_Missense_Mutation_p.G281E	p.G317E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1629	+		all_neural(266;0.117)	317					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.950G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.369524	0.01225	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.07114	3.22;3.22	3.36	-3.46	0.04767	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.653870	0.04142	N	0.319777	T	0.01835	0.0058	N	0.00289	-1.7	0.09310	N	1	B	0.29232	0.238	B	0.37731	0.257	T	0.38394	-0.9663	10	0.02654	T	1	.	1.9993	0.03463	0.2634:0.4229:0.1712:0.1424	.	317	Q6PF04	ZN613_HUMAN	E	317;281	ENSP00000293471:G317E;ENSP00000375671:G281E	ENSP00000293471:G317E	G	+	2	0	ZNF613	57139898	0.000000	0.05858	0.028000	0.17463	0.482000	0.33219	-0.761000	0.04751	-0.431000	0.07307	-0.345000	0.07892	GGA		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		21	34	0	0	0	1	0	21	34				
SCN8A	6334	broad.mit.edu	37	12	52159663	52159663	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52159663A>T	ENST00000354534.6	+	16	2931	c.2753A>T	c.(2752-2754)cAt>cTt	p.H918L	SCN8A_ENST00000550891.1_Missense_Mutation_p.H918L|SCN8A_ENST00000545061.1_Missense_Mutation_p.H918L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	918					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTCGCTGGCATATGCATGAC	0.502																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2752-2754)cAt>cTt		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						193.0	196.0	195.0					12																	52159663		2203	4300	6503	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52159663A>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2753A>T	12.37:g.52159663A>T	ENSP00000346534:p.His918Leu					SCN8A_ENST00000545061.1_Missense_Mutation_p.H918L|SCN8A_ENST00000550891.1_Missense_Mutation_p.H918L	p.H918L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	16	2931	+			918					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2753A>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559312	0.86335	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;0.96;1.0	D;D;D	0.97110	1.0;0.948;1.0	D	0.99406	1.0929	10	0.87932	D	0	.	14.9756	0.71269	1.0:0.0:0.0:0.0	.	918;918;918	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	L	918;918;918;918;831	ENSP00000448415:H918L;ENSP00000346534:H918L;ENSP00000440360:H918L;ENSP00000347255:H918L	ENSP00000346534:H918L	H	+	2	0	SCN8A	50445930	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.272000	0.75746	0.460000	0.39030	CAT		0.502	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		23	159	0	0	0	1	0	23	159				
MAST4	375449	broad.mit.edu	37	5	66426196	66426196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66426196G>T	ENST00000403625.2	+	15	2199	c.1904G>T	c.(1903-1905)tGc>tTc	p.C635F	MAST4_ENST00000404260.3_Missense_Mutation_p.C638F|MAST4_ENST00000405643.1_Missense_Mutation_p.C456F|MAST4_ENST00000261569.7_Missense_Mutation_p.C441F|MAST4_ENST00000403666.1_Missense_Mutation_p.C446F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	638	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATGTATTGCTCCTTTGAA	0.468																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(1912-1914)tGc>tTc		microtubule associated serine/threonine kinase family member 4							121.0	126.0	124.0					5																	66426196		2171	4279	6450	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66426196G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1904G>T	5.37:g.66426196G>T	ENSP00000385727:p.Cys635Phe					MAST4_ENST00000403625.2_Missense_Mutation_p.C635F|MAST4_ENST00000403666.1_Missense_Mutation_p.C446F|MAST4_ENST00000405643.1_Missense_Mutation_p.C456F|MAST4_ENST00000261569.7_Missense_Mutation_p.C441F	p.C638F			O15021	MAST4_HUMAN		Lung(70;0.011)	15	2221	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	638			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.1913G>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497689	0.85069	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	N	0.10782	0.045	0.80722	D	1	P;D;D;P	0.89917	0.743;1.0;1.0;0.698	P;D;D;P	0.97110	0.876;1.0;0.999;0.861	T	0.47799	-0.9089	10	0.87932	D	0	-17.1854	18.9218	0.92528	0.0:0.0:1.0:0.0	.	456;638;441;446	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	F	638;635;446;456;456;441;441	ENSP00000385048:C638F;ENSP00000385727:C635F;ENSP00000384313:C446F;ENSP00000384099:C456F;ENSP00000261569:C441F	ENSP00000261569:C441F	C	+	2	0	MAST4	66461952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.525000	0.85131	0.650000	0.86243	TGC		0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			10	81	1	0	2.68362e-12	1	3.37045e-12	10	81				
SLC1A1	6505	broad.mit.edu	37	9	4567705	4567705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4567705G>A	ENST00000262352.3	+	6	756	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	174					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GCCTCCCAGCGATCCAGAGAT	0.413																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.(520-522)Gat>Aat		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						118.0	103.0	108.0					9																	4567705		2203	4300	6503	SO:0001583	missense	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4567705G>A		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.520G>A	9.37:g.4567705G>A	ENSP00000262352:p.Asp174Asn						p.D174N	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	6	756	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	174					O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	c.520G>A	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226533	0.22542	.	.	ENSG00000106688	ENST00000262352	T	0.54675	0.56	5.93	4.09	0.47781	.	1.634830	0.02601	N	0.101038	T	0.27027	0.0662	N	0.01048	-1.04	0.19575	N	0.999962	B	0.06786	0.001	B	0.08055	0.003	T	0.23048	-1.0199	10	0.15952	T	0.53	.	10.1857	0.42995	0.2107:0.0:0.7893:0.0	.	174	P43005	EAA3_HUMAN	N	174	ENSP00000262352:D174N	ENSP00000262352:D174N	D	+	1	0	SLC1A1	4557705	0.022000	0.18835	0.011000	0.14972	0.035000	0.12851	1.944000	0.40263	1.513000	0.48852	0.561000	0.74099	GAT		0.413	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			6	10	0	0	0	1	0	6	10				
ZNF140	7699	broad.mit.edu	37	12	133682774	133682774	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682774T>A	ENST00000355557.2	+	5	2194	c.911T>A	c.(910-912)aTt>aAt	p.I304N	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Missense_Mutation_p.I201N	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATGAATGCATTGAATGTGGG	0.408																																						ENST00000355557.2																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(910-912)aTt>aAt		zinc finger protein 140							91.0	84.0	86.0					12																	133682774		2203	4300	6503	SO:0001583	missense	7699					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133682774T>A	U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.911T>A	12.37:g.133682774T>A	ENSP00000347755:p.Ile304Asn					ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Missense_Mutation_p.I201N	p.I304N	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	2194	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)	304					D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	ENST00000355557.2	37	c.911T>A	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	T	1.773	-0.483910	0.04383	.	.	ENSG00000196387	ENST00000355557;ENST00000544426;ENST00000433577	T;T	0.07216	3.21;3.21	3.28	-1.11	0.09840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.233195	0.22489	N	0.059389	T	0.02083	0.0065	N	0.01751	-0.74	0.50313	D	0.999863	B	0.10296	0.003	B	0.06405	0.002	T	0.47548	-0.9109	10	0.11794	T	0.64	.	3.7467	0.08551	0.1712:0.3733:0.0:0.4556	.	304	P52738	ZN140_HUMAN	N	304;201;123	ENSP00000347755:I304N;ENSP00000445411:I201N	ENSP00000347755:I304N	I	+	2	0	ZNF140	132192847	0.000000	0.05858	0.989000	0.46669	0.998000	0.95712	-5.060000	0.00155	-0.197000	0.10350	0.455000	0.32223	ATT		0.408	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440		13	94	0	0	0	1	0	13	94				
HOOK2	29911	broad.mit.edu	37	19	12883718	12883718	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12883718C>T	ENST00000397668.3	-	5	337	c.264G>A	c.(262-264)gcG>gcA	p.A88A	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Silent_p.A88A	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	88	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ACACAGGATGCGCCAGGACCT	0.592																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(262-264)gcG>gcA		hook microtubule-tethering protein 2							59.0	62.0	61.0					19																	12883718		1936	4123	6059	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12883718C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.264G>A	19.37:g.12883718C>T						HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.A88A	p.A88A	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			5	434	-			88			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.		O60562	Silent	SNP	ENST00000397668.3	37	c.264G>A	CCDS42508.1																																																																																				0.592	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		16	38	0	0	0	1	0	16	38				
GPALPP1	55425	broad.mit.edu	37	13	45594492	45594492	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45594492A>C	ENST00000379151.4	+	7	836	c.733A>C	c.(733-735)Agt>Cgt	p.S245R	GPALPP1_ENST00000357537.3_Missense_Mutation_p.S75R|GPALPP1_ENST00000361121.2_Missense_Mutation_p.S245R|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	245																	GAAGTCATCCAGTAAGAAAGA	0.303																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(733-735)Agt>Cgt									94.0	97.0	96.0					13																	45594492		2203	4300	6503	SO:0001583	missense	0							g.chr13:45594492A>C	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.733A>C	13.37:g.45594492A>C	ENSP00000368447:p.Ser245Arg					KIAA1704_ENST00000357537.3_Missense_Mutation_p.S75R|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.S245R	p.S245R			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	7	768	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	245					A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	c.733A>C	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	A	7.938	0.742051	0.15642	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.16	-1.62	0.08372	.	0.523113	0.23217	N	0.050617	T	0.37376	0.1001	M	0.64170	1.965	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.17722	0.002;0.019	T	0.30387	-0.9980	9	0.21540	T	0.41	-10.2691	7.952	0.30021	0.6407:0.1042:0.2551:0.0	.	96;245	Q8IXQ4-2;Q8IXQ4	.;K1704_HUMAN	R	245;245;75	.	ENSP00000350145:S75R	S	+	1	0	KIAA1704	44492492	0.002000	0.14202	0.002000	0.10522	0.408000	0.30992	1.472000	0.35376	-0.458000	0.07023	-1.162000	0.01777	AGT		0.303	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		8	56	0	0	0	1	0	8	56				
CEP350	9857	broad.mit.edu	37	1	180044227	180044227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180044227C>T	ENST00000367607.3	+	28	6056	c.5638C>T	c.(5638-5640)Cga>Tga	p.R1880*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1880					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGTGGAAGCGACGTTTAGA	0.428																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5638-5640)Cga>Tga		centrosomal protein 350kDa							66.0	60.0	62.0					1																	180044227		2203	4300	6503	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:180044227C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5638C>T	1.37:g.180044227C>T	ENSP00000356579:p.Arg1880*						p.R1880*	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			28	6056	+			1880					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.5638C>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.394772|5.394772	0.96009|0.96009	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|.	.|.	.|.	5.81|5.81	1.63|1.63	0.23807|0.23807	.|.	.|0.000000	.|0.38381	.|N	.|0.001707	T|.	0.65375|.	0.2685|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71269|.	-0.4643|.	3|.	.|.	.|.	.|.	.|.	16.1913|16.1913	0.81989|0.81989	0.3951:0.6049:0.0:0.0|0.3951:0.6049:0.0:0.0	.|.	.|.	.|.	.|.	V|X	54|1880	.|.	.|.	A|R	+|+	2|1	0|2	CEP350|CEP350	178310850|178310850	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	1.590000|1.590000	0.36654|0.36654	0.352000|0.352000	0.24053|0.24053	0.591000|0.591000	0.81541|0.81541	GCG|CGA		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		5	19	0	0	0	1	0	5	19				
EPX	8288	broad.mit.edu	37	17	56274504	56274504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56274504G>A	ENST00000225371.5	+	7	1116	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	336					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GGGGCTGCTGGCCATCAACCA	0.647																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1006-1008)Gcc>Acc		eosinophil peroxidase							99.0	96.0	97.0					17																	56274504		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274504G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1006G>A	17.37:g.56274504G>A	ENSP00000225371:p.Ala336Thr						p.A336T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	1116	+			336					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1006G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494715	0.44352	.	.	ENSG00000121053	ENST00000225371	T	0.72505	-0.66	4.86	3.9	0.45041	.	0.093415	0.64402	N	0.000001	T	0.81688	0.4875	M	0.82517	2.595	0.35482	D	0.798266	D	0.61697	0.99	P	0.62491	0.903	D	0.86239	0.1642	10	0.45353	T	0.12	-24.5812	11.2699	0.49133	0.0907:0.0:0.9093:0.0	.	336	P11678	PERE_HUMAN	T	336	ENSP00000225371:A336T	ENSP00000225371:A336T	A	+	1	0	EPX	53629503	1.000000	0.71417	0.987000	0.45799	0.033000	0.12548	2.962000	0.49176	1.182000	0.42928	0.462000	0.41574	GCC		0.647	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		25	48	0	0	0	1	0	25	48				
MGMT	4255	broad.mit.edu	37	10	131506229	131506229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:131506229C>T	ENST00000306010.7	+	3	321	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	66					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CACAGCCTGGCTGAATGCCTA	0.597								Direct reversal of damage																														ENST00000306010.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(289-291)Ctg>Ttg	Direct reversal of damage	O-6-methylguanine-DNA methyltransferase							96.0	97.0	96.0					10																	131506229		2203	4300	6503	SO:0001819	synonymous_variant	4255							g.chr10:131506229C>T	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.289C>T	10.37:g.131506229C>T						MGMT_ENST00000462672.1_3'UTR	p.L97L	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	3	321	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	97					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.289C>T	CCDS7660.2																																																																																				0.597	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		35	44	0	0	0	1	0	35	44				
FLCN	201163	broad.mit.edu	37	17	17129551	17129551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17129551G>T	ENST00000285071.4	-	5	789	c.335C>A	c.(334-336)cCc>cAc	p.P112H	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.P112H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	112					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGGTGGCTGGGGTGCTGGTG	0.597									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(334-336)cCc>cAc		folliculin							86.0	87.0	87.0					17																	17129551		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17129551G>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.335C>A	17.37:g.17129551G>T	ENSP00000285071:p.Pro112His					FLCN_ENST00000389169.5_Missense_Mutation_p.P112H|RP11-45M22.4_ENST00000427497.3_Intron	p.P112H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			5	789	-			112					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.335C>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147776	0.94603	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000417064;ENST00000389168;ENST00000389171	D;D;D	0.92249	-3.0;-3.0;-3.0	5.64	5.64	0.86602	.	0.049060	0.85682	D	0.000000	D	0.96558	0.8877	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.919;0.999	D	0.96865	0.9635	10	0.87932	D	0	-32.502	18.6752	0.91526	0.0:0.0:1.0:0.0	.	112;112;112	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	H	112;112;59;112;112	ENSP00000285071:P112H;ENSP00000373821:P112H;ENSP00000410410:P59H	ENSP00000285071:P112H	P	-	2	0	FLCN	17070276	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.404000	0.97306	2.650000	0.89964	0.563000	0.77884	CCC		0.597	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		8	63	1	0	1.26484e-09	1	1.54084e-09	8	63				
USP39	10713	broad.mit.edu	37	2	85848692	85848692	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85848692G>A	ENST00000323701.6	+	3	433	c.423G>A	c.(421-423)aaG>aaA	p.K141K	USP39_ENST00000409766.3_Silent_p.K141K|USP39_ENST00000409470.1_Silent_p.K141K|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Silent_p.K141K|USP39_ENST00000450066.2_Intron	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	141					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGTGTGGCAAGTACTTTCAAG	0.388																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(421-423)aaG>aaA		ubiquitin specific peptidase 39							179.0	152.0	161.0					2																	85848692		2203	4300	6503	SO:0001819	synonymous_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85848692G>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.423G>A	2.37:g.85848692G>A						USP39_ENST00000409470.1_Silent_p.K141K|USP39_ENST00000409766.3_Silent_p.K141K|USP39_ENST00000409025.1_Silent_p.K141K|USP39_ENST00000450066.2_Intron|USP39_ENST00000459775.1_3'UTR	p.K141K	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			3	433	+			141					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Silent	SNP	ENST00000323701.6	37	c.423G>A	CCDS33234.1																																																																																				0.388	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		30	50	0	0	0	1	0	30	50				
NMUR1	10316	broad.mit.edu	37	2	232393708	232393708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393708G>T	ENST00000305141.4	-	2	157	c.24C>A	c.(22-24)tgC>tgA	p.C8*		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	8					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGAGGACAGAGCAATTGAGGC	0.572																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(22-24)tgC>tgA		neuromedin U receptor 1							32.0	34.0	33.0					2																	232393708		2203	4299	6502	SO:0001587	stop_gained	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393708G>T	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.24C>A	2.37:g.232393708G>T	ENSP00000305877:p.Cys8*						p.C8*	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	157	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	8					O43664|Q7LDP6|Q8NE20	Nonsense_Mutation	SNP	ENST00000305141.4	37	c.24C>A	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	g	37	6.274981	0.97435	.	.	ENSG00000171596	ENST00000305141	.	.	.	5.2	0.801	0.18679	.	1.814990	0.03015	N	0.149957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3206	4.1801	0.10370	0.3877:0.0:0.4597:0.1526	.	.	.	.	X	8	.	ENSP00000305877:C8X	C	-	3	2	NMUR1	232101952	0.995000	0.38212	0.493000	0.27502	0.889000	0.51656	1.353000	0.34045	0.095000	0.17434	0.549000	0.68633	TGC		0.572	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		4	13	1	0	0.000602214	1	0.000649039	4	13				
ABTB2	25841	broad.mit.edu	37	11	34218941	34218941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34218941C>T	ENST00000435224.2	-	3	1599	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	ABTB2_ENST00000298992.2_Missense_Mutation_p.R206Q|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	392					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGTGGACACCGCAGAAAGTA	0.642																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1174-1176)cGg>cAg		ankyrin repeat and BTB (POZ) domain containing 2							58.0	58.0	58.0					11																	34218941		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34218941C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1175G>A	11.37:g.34218941C>T	ENSP00000410157:p.Arg392Gln					ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.R206Q	p.R392Q	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			3	1599	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	206					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.1175G>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630252	0.87660	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.41065	1.01;1.01	5.6	5.6	0.85130	.	0.177781	0.50627	D	0.000120	T	0.41719	0.1171	L	0.58101	1.795	0.58432	D	0.999998	D	0.65815	0.995	B	0.39971	0.315	T	0.33420	-0.9869	10	0.25751	T	0.34	-10.2458	19.6195	0.95650	0.0:1.0:0.0:0.0	.	206	Q8N961	ABTB2_HUMAN	Q	392;206	ENSP00000410157:R392Q;ENSP00000298992:R206Q	ENSP00000298992:R206Q	R	-	2	0	ABTB2	34175517	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	4.922000	0.63404	2.633000	0.89246	0.561000	0.74099	CGG		0.642	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		11	33	0	0	0	1	0	11	33				
RBL1	5933	broad.mit.edu	37	20	35661096	35661096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35661096G>T	ENST00000373664.3	-	16	2420	c.2354C>A	c.(2353-2355)aCt>aAt	p.T785N	RBL1_ENST00000344359.3_Missense_Mutation_p.T785N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	785	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAAGGACCCAGTTCTCTTTGG	0.363																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2353-2355)aCt>aAt		retinoblastoma-like 1 (p107)							232.0	222.0	226.0					20																	35661096		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35661096G>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2354C>A	20.37:g.35661096G>T	ENSP00000362768:p.Thr785Asn					RBL1_ENST00000344359.3_Missense_Mutation_p.T785N	p.T785N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			16	2420	-		Myeloproliferative disorder(115;0.00878)	785			Domain B.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2354C>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497221	0.85069	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.93811	-3.07;-3.29	5.3	5.3	0.74995	Cyclin-like (1);	0.120955	0.53938	D	0.000042	D	0.94735	0.8301	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.969	D	0.93283	0.6662	10	0.31617	T	0.26	-19.2733	19.1532	0.93499	0.0:0.0:1.0:0.0	.	785;785	P28749-2;P28749	.;RBL1_HUMAN	N	785	ENSP00000362768:T785N;ENSP00000343646:T785N	ENSP00000343646:T785N	T	-	2	0	RBL1	35094510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.775000	0.95449	0.650000	0.86243	ACT		0.363	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		8	172	1	0	5.68852e-11	1	7.05143e-11	8	172				
DZIP1L	199221	broad.mit.edu	37	3	137790485	137790485	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137790485C>A	ENST00000327532.2	-	12	1977	c.1615G>T	c.(1615-1617)Gtc>Ttc	p.V539F	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Splice_Site_p.G539C	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	539					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCAGTGTACCTGAAGGCTGC	0.562																																						ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.e12+1		DAZ interacting zinc finger protein 1-like							68.0	71.0	70.0					3																	137790485		2203	4300	6503	SO:0001630	splice_region_variant	199221					intracellular	zinc ion binding	g.chr3:137790485C>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1615+1G>T	3.37:g.137790485C>A						DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Splice_Site_p.G539_splice	p.V539_splice	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			12	1977	-			539					C9JUG5|Q96M38	Splice_Site	SNP	ENST00000327532.2	37	c.1615_splice	CCDS3096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353546|4.353546	0.82243|0.82243	.|.	.|.	ENSG00000158163|ENSG00000158163	ENST00000469243;ENST00000536706|ENST00000327532	T|T	0.33216|0.43688	1.42|0.94	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.588762	.|0.16059	.|N	.|0.231597	T|T	0.39937|0.39937	0.1097|0.1097	L|L	0.57536|0.57536	1.79|1.79	0.27748|0.27748	N|N	0.944246|0.944246	D|P	0.89917|0.42409	1.0|0.779	D|B	0.78314|0.37304	0.991|0.246	T|T	0.41893|0.41893	-0.9483|-0.9483	9|10	0.87932|0.46703	D|T	0|0.11	-11.0096|-11.0096	13.6196|13.6196	0.62130|0.62130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	539|539	Q8IYY4-2|Q8IYY4	.|DZI1L_HUMAN	C|F	539|539	ENSP00000419486:G539C|ENSP00000332148:V539F	ENSP00000419486:G539C|ENSP00000332148:V539F	G|V	-|-	1|1	0|0	DZIP1L|DZIP1L	139273175|139273175	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.455000|0.455000	0.32408|0.32408	3.626000|3.626000	0.54245|0.54245	2.344000|2.344000	0.79699|0.79699	0.655000|0.655000	0.94253|0.94253	GGC;GGT|GTC		0.562	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	Missense_Mutation	13	25	1	0	7.03913e-09	1	8.47891e-09	13	25				
DIP2A	23181	broad.mit.edu	37	21	47969687	47969687	+	Silent	SNP	C	C	T	rs535428734		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47969687C>T	ENST00000417564.2	+	22	2547	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	DIP2A_ENST00000400274.1_Silent_p.I838I|DIP2A_ENST00000427143.2_Silent_p.I778I|DIP2A_ENST00000457905.3_Silent_p.I842I|DIP2A_ENST00000318711.7_Silent_p.I843I			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	842					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCGCAGGATCGCTGTGTTCT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17829	0.0		0.0	False		,,,				2504	0.0					ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2527-2529)atC>atT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							100.0	103.0	102.0					21																	47969687		2202	4300	6502	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47969687C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2526C>T	21.37:g.47969687C>T						DIP2A_ENST00000457905.3_Silent_p.I842I|DIP2A_ENST00000400274.1_Silent_p.I838I|DIP2A_ENST00000417564.2_Silent_p.I842I|DIP2A_ENST00000427143.2_Silent_p.I778I	p.I843I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	22	2712	+	Breast(49;0.0933)		842					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.2529C>T	CCDS46655.1																																																																																				0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		30	72	0	0	0	1	0	30	72				
AIP	9049	broad.mit.edu	37	11	67254613	67254613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67254613C>T	ENST00000279146.3	+	2	354	c.236C>T	c.(235-237)aCc>aTc	p.T79I		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	79	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						ATCGTGTGCACCATGCGAGAA	0.587									Familial Isolated Pituitary Adenoma																													ENST00000279146.3																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(235-237)aCc>aTc		aryl hydrocarbon receptor interacting protein							276.0	230.0	246.0					11																	67254613		2200	4295	6495	SO:0001583	missense	9049	Familial Isolated Pituitary Adenoma	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67254613C>T	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.236C>T	11.37:g.67254613C>T	ENSP00000279146:p.Thr79Ile						p.T79I	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN			2	354	+			79			PPIase FKBP-type.		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.236C>T	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872149	0.91587	.	.	ENSG00000110711	ENST00000528641;ENST00000279146;ENST00000529797	D;D;D	0.86030	-2.06;-2.06;-2.06	5.16	5.16	0.70880	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.054538	0.64402	D	0.000001	D	0.93785	0.8013	M	0.91663	3.23	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.95097	0.8227	10	0.87932	D	0	-41.8056	17.1951	0.86891	0.0:1.0:0.0:0.0	.	79	O00170	AIP_HUMAN	I	79	ENSP00000434982:T79I;ENSP00000279146:T79I;ENSP00000434580:T79I	ENSP00000279146:T79I	T	+	2	0	AIP	67011189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.448000	0.60027	2.400000	0.81607	0.491000	0.48974	ACC		0.587	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			42	71	0	0	0	1	0	42	71				
PEX7	5191	broad.mit.edu	37	6	137193348	137193348	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137193348C>A	ENST00000318471.4	+	8	841	c.760C>A	c.(760-762)Cat>Aat	p.H254N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	254					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTCACCATTTCATGCTTCTGT	0.318																																						ENST00000318471.4																			0				lung(7)|prostate(1)	8						c.(760-762)Cat>Aat		peroxisomal biogenesis factor 7							135.0	139.0	137.0					6																	137193348		2202	4297	6499	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137193348C>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.760C>A	6.37:g.137193348C>A	ENSP00000315680:p.His254Asn					PEX7_ENST00000541292.1_3'UTR	p.H254N	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	8	841	+	Colorectal(23;0.24)		254					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.760C>A	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	C	7.742	0.701460	0.15172	.	.	ENSG00000112357	ENST00000318471	T	0.79749	-1.3	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.283098	0.39146	N	0.001444	T	0.53400	0.1794	N	0.04063	-0.285	0.80722	D	1	B	0.25390	0.125	B	0.27887	0.084	T	0.55903	-0.8067	10	0.37606	T	0.19	-19.9084	18.2383	0.89957	0.0:1.0:0.0:0.0	.	254	O00628	PEX7_HUMAN	N	254	ENSP00000315680:H254N	ENSP00000315680:H254N	H	+	1	0	PEX7	137235041	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	1.767000	0.38501	2.671000	0.90904	0.585000	0.79938	CAT		0.318	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		36	60	1	0	1.36161e-19	1	1.78291e-19	36	60				
SNX4	8723	broad.mit.edu	37	3	125208288	125208288	+	Missense_Mutation	SNP	G	G	A	rs376043460		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125208288G>A	ENST00000251775.4	-	6	641	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SNX4_ENST00000536067.1_Missense_Mutation_p.A61V|SNX4_ENST00000473417.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	206					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCATTAAGCGCTTTTAACCT	0.294																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(616-618)gCg>gTg		sorting nexin 4		G	VAL/ALA	0,4404		0,0,2202	94.0	92.0	93.0		617	4.2	1.0	3		93	1,8597	1.2+/-3.3	0,1,4298	no	missense	SNX4	NM_003794.2	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	206/451	125208288	1,13001	2202	4299	6501	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125208288G>A	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.617C>T	3.37:g.125208288G>A	ENSP00000251775:p.Ala206Val					SNX4_ENST00000536067.1_Missense_Mutation_p.A61V|SNX4_ENST00000473417.1_Intron	p.A206V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			6	641	-			206					B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.617C>T	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390081	0.61956	0.0	1.16E-4	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.48522	0.81;1.93	5.02	4.15	0.48705	.	0.106561	0.64402	D	0.000005	T	0.36303	0.0962	L	0.46157	1.445	0.49915	D	0.999838	P	0.50066	0.931	B	0.36504	0.226	T	0.17167	-1.0378	10	0.22109	T	0.4	-10.1616	13.7196	0.62719	0.0743:0.0:0.9257:0.0	.	206	O95219	SNX4_HUMAN	V	206;61	ENSP00000251775:A206V;ENSP00000440824:A61V	ENSP00000251775:A206V	A	-	2	0	SNX4	126690978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.664000	0.91139	1.332000	0.45431	0.591000	0.81541	GCG		0.294	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		18	28	0	0	0	1	0	18	28				
ATP5B	506	broad.mit.edu	37	12	57039093	57039093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57039093C>T	ENST00000262030.3	-	2	222	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.A58T|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	58					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGTGGCGGCGCCTGCTTTT	0.562																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(172-174)Gcc>Acc		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							61.0	69.0	67.0					12																	57039093		2203	4299	6502	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57039093C>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.172G>A	12.37:g.57039093C>T	ENSP00000262030:p.Ala58Thr					ATP5B_ENST00000552919.1_Missense_Mutation_p.A58T	p.A58T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			2	222	-			58					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.172G>A	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806690	0.31961	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000553007	D;D;T	0.82803	-1.65;-1.65;0.92	5.11	-1.37	0.09056	ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.658177	0.16177	N	0.226035	T	0.63850	0.2546	N	0.19112	0.55	0.20307	N	0.999913	B	0.10296	0.003	B	0.08055	0.003	T	0.45991	-0.9223	10	0.20046	T	0.44	0.3415	5.4437	0.16523	0.0:0.3467:0.2661:0.3872	.	58	P06576	ATPB_HUMAN	T	58	ENSP00000262030:A58T;ENSP00000450297:A58T;ENSP00000447571:A58T	ENSP00000262030:A58T	A	-	1	0	ATP5B	55325360	0.000000	0.05858	0.011000	0.14972	0.831000	0.47069	-0.054000	0.11826	-0.358000	0.08162	0.591000	0.81541	GCC		0.562	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		26	64	0	0	0	1	0	26	64				
KIAA1045	23349	broad.mit.edu	37	9	34977131	34977131	+	Missense_Mutation	SNP	G	G	A	rs536419897		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34977131G>A	ENST00000242315.3	+	6	983	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	KIAA1045_ENST00000544237.1_Missense_Mutation_p.A301T|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	301							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCCCGAGCCGCCTTCCTGGC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18377	0.0		0.0	False		,,,				2504	0.0					ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(901-903)Gcc>Acc		KIAA1045							46.0	51.0	49.0					9																	34977131		1897	4108	6005	SO:0001583	missense	23349						calcium ion binding	g.chr9:34977131G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.901G>A	9.37:g.34977131G>A	ENSP00000242315:p.Ala301Thr					KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.A301T	p.A301T	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		6	983	+			301					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.901G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141336	0.09083	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	4.72	-1.94	0.07571	.	0.407546	0.25833	N	0.028001	T	0.12646	0.0307	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34030	-0.9845	9	0.08599	T	0.76	-10.0091	10.1409	0.42734	0.5809:0.0:0.4191:0.0	.	301	Q9UPV7	K1045_HUMAN	T	301	.	ENSP00000242315:A301T	A	+	1	0	KIAA1045	34967131	0.000000	0.05858	0.943000	0.38184	0.944000	0.59088	0.318000	0.19504	-0.199000	0.10317	-1.119000	0.02030	GCC		0.582	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		22	38	0	0	0	1	0	22	38				
SEMA4G	57715	broad.mit.edu	37	10	102743539	102743539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102743539C>A	ENST00000370250.4	+	14	2541	c.2168C>A	c.(2167-2169)tCt>tAt	p.S723Y	MRPL43_ENST00000299179.5_Missense_Mutation_p.Q167H|MRPL43_ENST00000342071.1_Missense_Mutation_p.D210Y|MRPL43_ENST00000370242.4_Missense_Mutation_p.D210Y|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000493646.1_5'Flank|SEMA4G_ENST00000210633.3_Missense_Mutation_p.S728Y|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Missense_Mutation_p.Q167H|MRPL43_ENST00000370241.3_Missense_Mutation_p.Q167H	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	723					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCAGGAGGATCTGCGGTGCAA	0.642																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2182-2184)tCt>tAt		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							28.0	25.0	26.0					10																	102743539		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743539C>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2168C>A	10.37:g.102743539C>A	ENSP00000359270:p.Ser723Tyr					MRPL43_ENST00000342071.1_Missense_Mutation_p.D210Y|SEMA4G_ENST00000370250.4_Missense_Mutation_p.S723Y|MRPL43_ENST00000370242.4_Missense_Mutation_p.D210Y|MRPL43_ENST00000318325.2_Missense_Mutation_p.Q167H|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Missense_Mutation_p.Q167H|MRPL43_ENST00000370241.3_Missense_Mutation_p.Q167H|SEMA4G_ENST00000517724.1_Intron	p.S728Y			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2261	+		Colorectal(252;0.234)	723					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.2183C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	13.73|13.73|13.73	2.323645|2.323645|2.323645	0.41096|0.41096|0.41096	.|.|.	.|.|.	ENSG00000055950|ENSG00000055950|ENSG00000095539	ENST00000523148;ENST00000370242;ENST00000342071|ENST00000318325;ENST00000370241;ENST00000299179|ENST00000370250;ENST00000210633	.|.|T;T	.|.|0.19532	.|.|2.14;2.2	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	.|.|0.121296	.|.|0.37623	.|.|U	.|.|0.002012	T|T|T	0.30479|0.30479|0.30479	0.0766|0.0766|0.0766	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.40307|0.40307|0.40307	D|D|D	0.978678|0.978678|0.978678	P;P|D;P|D	0.34934|0.54964|0.67145	0.476;0.476|0.969;0.947|0.996	B;B|P;P|D	0.31016|0.54100|0.64042	0.123;0.057|0.742;0.556|0.921	T|T|T	0.02512|0.02512|0.02512	-1.1148|-1.1148|-1.1148	8|8|10	0.87932|0.87932|0.39692	D|D|T	0|0|0.17	-26.1581|-26.1581|-26.1581	14.4591|14.4591|14.4591	0.67438|0.67438|0.67438	0.0:0.8413:0.1587:0.0|0.0:0.8413:0.1587:0.0|0.0:0.8413:0.1587:0.0	.|.|.	210;210|167;167|728	B1AL06;C9J5Q3|Q8N983-2;Q8N983|Q9NTN9-2	.;.|.;RM43_HUMAN|.	Y|H|Y	124;210;210|167|723;728	.|.|ENSP00000359270:S723Y;ENSP00000210633:S728Y	ENSP00000339844:D210Y|ENSP00000299179:Q167H|ENSP00000210633:S728Y	D|Q|S	-|-|+	1|3|2	0|2|0	MRPL43|MRPL43|SEMA4G	102733529|102733529|102733529	0.816000|0.816000|0.816000	0.29132|0.29132|0.29132	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.696000|0.696000|0.696000	0.40369|0.40369|0.40369	2.655000|2.655000|2.655000	0.46707|0.46707|0.46707	2.510000|2.510000|2.510000	0.84645|0.84645|0.84645	0.550000|0.550000|0.550000	0.68814|0.68814|0.68814	GAT|CAG|TCT		0.642	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			4	7	1	0	0.150653	1	0.152692	4	7				
SOX5	6660	broad.mit.edu	37	12	23687228	23687228	+	Silent	SNP	G	G	A	rs144757257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23687228G>A	ENST00000451604.2	-	15	2318	c.2217C>T	c.(2215-2217)taC>taT	p.Y739Y	SOX5_ENST00000537393.1_Silent_p.Y704Y|SOX5_ENST00000545921.1_Silent_p.Y729Y|SOX5_ENST00000541536.1_Silent_p.Y618Y|SOX5_ENST00000381381.2_Silent_p.Y618Y|SOX5_ENST00000309359.1_Silent_p.Y726Y|SOX5_ENST00000396007.2_Silent_p.Y353Y|SOX5_ENST00000546136.1_Silent_p.Y726Y			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	739					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTCCTCGTCGTACTCATCAT	0.443																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(2176-2178)taC>taT		SRY (sex determining region Y)-box 5		G	,,	0,4406		0,0,2203	266.0	223.0	238.0		2217,2178,1059	1.8	1.0	12	dbSNP_134	238	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SOX5	NM_006940.4,NM_152989.2,NM_178010.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	739/764,726/751,353/378	23687228	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23687228G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2217C>T	12.37:g.23687228G>A						SOX5_ENST00000541536.1_Silent_p.Y618Y|SOX5_ENST00000545921.1_Silent_p.Y729Y|SOX5_ENST00000451604.2_Silent_p.Y739Y|SOX5_ENST00000396007.2_Silent_p.Y353Y|SOX5_ENST00000537393.1_Silent_p.Y704Y|SOX5_ENST00000309359.1_Silent_p.Y726Y|SOX5_ENST00000381381.2_Silent_p.Y618Y	p.Y726Y			P35711	SOX5_HUMAN			14	2180	-			739					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.2178C>T	CCDS8699.1																																																																																				0.443	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		45	69	0	0	0	1	0	45	69				
EXOC3L1	283849	broad.mit.edu	37	16	67219349	67219349	+	Missense_Mutation	SNP	G	G	A	rs142958191		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67219349G>A	ENST00000314586.6	-	10	1781	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	514			A -> D (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)		p.A514D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGAGCCAAGGCCCCTGAAGG	0.642											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314586.6																			1	Substitution - Missense(1)	p.A514D(1)	breast(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1540-1542)gCc>gTc		exocyst complex component 3-like 1							59.0	65.0	63.0					16																	67219349		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67219349G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1541C>T	16.37:g.67219349G>A	ENSP00000325674:p.Ala514Val		OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097		p.A514V	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			10	1781	-			514		A -> D (in a breast cancer sample; somatic mutation).			A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1541C>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979190	0.18812	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.06687	3.27;3.27	5.18	-2.29	0.06805	.	0.748191	0.13044	N	0.418266	T	0.03053	0.0090	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.17268	0.017;0.021;0.001	B;B;B	0.15870	0.008;0.014;0.005	T	0.43180	-0.9407	10	0.25751	T	0.34	0.2418	4.8962	0.13751	0.5896:0.0:0.2506:0.1598	.	411;411;514	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	V	514;411;416	ENSP00000325674:A514V;ENSP00000439910:A411V	ENSP00000325008:A416V	A	-	2	0	EXOC3L1	65776850	0.000000	0.05858	0.071000	0.20095	0.632000	0.37999	-0.326000	0.07965	-0.213000	0.10094	0.563000	0.77884	GCC		0.642	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		29	60	0	0	0	1	0	29	60				
ZNF622	90441	broad.mit.edu	37	5	16465590	16465590	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16465590C>A	ENST00000308683.2	-	1	311	c.185G>T	c.(184-186)aGc>aTc	p.S62I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	62					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGAGCCCTTGCTCTCCTCCTC	0.652																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(184-186)aGc>aTc		zinc finger protein 622							86.0	76.0	80.0					5																	16465590		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465590C>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.185G>T	5.37:g.16465590C>A	ENSP00000310042:p.Ser62Ile						p.S62I	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	311	-			62						Missense_Mutation	SNP	ENST00000308683.2	37	c.185G>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369555	0.82463	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.88	4.0	0.46444	.	0.244954	0.45361	D	0.000376	T	0.45577	0.1349	L	0.36672	1.1	0.46416	D	0.99903	B	0.30455	0.28	B	0.30572	0.117	T	0.43015	-0.9417	9	0.46703	T	0.11	-0.1521	9.4089	0.38480	0.0:0.7676:0.1477:0.0847	.	62	Q969S3	ZN622_HUMAN	I	62	.	ENSP00000310042:S62I	S	-	2	0	ZNF622	16518590	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.847000	0.27696	1.258000	0.44101	0.650000	0.86243	AGC		0.652	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		6	63	1	0	0.0293803	1	0.0301098	6	63				
ATP2C2	9914	broad.mit.edu	37	16	84497225	84497225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84497225C>T	ENST00000262429.4	+	27	2817	c.2728C>T	c.(2728-2730)Ctg>Ttg	p.L910L	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Silent_p.L939L	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	910					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCAGATTTGCTGTTTTTAAC	0.502																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2815-2817)Ctg>Ttg		ATPase, Ca++ transporting, type 2C, member 2							97.0	104.0	101.0					16																	84497225		1917	4131	6048	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84497225C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2728C>T	16.37:g.84497225C>T						ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Silent_p.L910L	p.L939L			O75185	AT2C2_HUMAN			28	2904	+			910					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.2815C>T	CCDS42207.1																																																																																				0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		20	25	0	0	0	1	0	20	25				
NPHP3	27031	broad.mit.edu	37	3	132408040	132408040	+	Nonsense_Mutation	SNP	C	C	A	rs150941925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132408040C>A	ENST00000337331.5	-	20	2847	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	921					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAAGTATTCTGTTGCCATT	0.398																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2761-2763)Gaa>Taa		nephronophthisis 3 (adolescent)							123.0	115.0	118.0					3																	132408040		2203	4300	6503	SO:0001587	stop_gained	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132408040C>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2761G>T	3.37:g.132408040C>A	ENSP00000338766:p.Glu921*					NPHP3_ENST00000326682.8_3'UTR	p.E921*	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			20	2847	-			921					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Nonsense_Mutation	SNP	ENST00000337331.5	37	c.2761G>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	41	8.948358	0.99014	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	.	.	.	5.86	5.86	0.93980	.	0.095236	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-21.6103	20.1859	0.98214	0.0:1.0:0.0:0.0	.	.	.	.	X	201;921	.	ENSP00000338766:E921X	E	-	1	0	NPHP3	133890730	1.000000	0.71417	0.765000	0.31456	0.962000	0.63368	5.535000	0.67173	2.777000	0.95525	0.591000	0.81541	GAA		0.398	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		10	95	1	0	0.0809354	1	0.0825713	10	95				
JAG1	182	broad.mit.edu	37	20	10639258	10639258	+	Silent	SNP	G	G	A	rs375199216		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10639258G>A	ENST00000254958.5	-	4	1067	c.552C>T	c.(550-552)cgC>cgT	p.R184R	JAG1_ENST00000423891.2_Silent_p.R25R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	184			R -> C (in ALGS1). {ECO:0000269|PubMed:9207788, ECO:0000269|PubMed:9585603}.|R -> G (in ALGS1). {ECO:0000269|PubMed:10220506}.|R -> H (in ALGS1). {ECO:0000269|PubMed:12442286, ECO:0000269|PubMed:9585603}.|R -> L (in ALGS1). {ECO:0000269|PubMed:10533065}.		angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGGTCACGCGGATCTGAT	0.522									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(550-552)cgC>cgT		jagged 1		G		0,4406		0,0,2203	163.0	140.0	148.0		552	-10.9	0.1	20		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAG1	NM_000214.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		184/1219	10639258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10639258G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.552C>T	20.37:g.10639258G>A						JAG1_ENST00000423891.2_Silent_p.R25R	p.R184R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			4	1067	-			184		R -> C (in ALGS1).|R -> G (in ALGS1).|R -> H (in ALGS1).|R -> L (in ALGS1).			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.552C>T	CCDS13112.1																																																																																				0.522	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		30	47	0	0	0	1	0	30	47				
DFFB	1677	broad.mit.edu	37	1	3782428	3782428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3782428G>A	ENST00000378209.3	+	3	617	c.294G>A	c.(292-294)ggG>ggA	p.G98G	DFFB_ENST00000338895.3_Silent_p.G98G	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	98					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACAGGTGGGGCTCATCCAGG	0.607																																						ENST00000378209.3																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(292-294)ggG>ggA		DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)							41.0	41.0	41.0					1																	3782428		2203	4300	6503	SO:0001819	synonymous_variant	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3782428G>A		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.294G>A	1.37:g.3782428G>A						DFFB_ENST00000338895.3_Silent_p.G98G	p.G98G	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	3	617	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	98					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000378209.3	37	c.294G>A	CCDS52.1																																																																																				0.607	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		20	20	0	0	0	1	0	20	20				
FBN3	84467	broad.mit.edu	37	19	8161815	8161815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8161815C>T	ENST00000600128.1	-	43	5777	c.5363G>A	c.(5362-5364)cGc>cAc	p.R1788H	FBN3_ENST00000601739.1_Missense_Mutation_p.R1788H|FBN3_ENST00000270509.2_Missense_Mutation_p.R1788H			Q75N90	FBN3_HUMAN	fibrillin 3	1788	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1788L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACTTGCAGCGGTAGCTACC	0.597																																						ENST00000600128.1																			1	Substitution - Missense(1)	p.R1788L(1)	endometrium(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5362-5364)cGc>cAc		fibrillin 3							75.0	70.0	72.0					19																	8161815		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8161815C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5363G>A	19.37:g.8161815C>T	ENSP00000470498:p.Arg1788His					FBN3_ENST00000270509.2_Missense_Mutation_p.R1788H|FBN3_ENST00000601739.1_Missense_Mutation_p.R1788H	p.R1788H			Q75N90	FBN3_HUMAN			43	5777	-			1788			EGF-like 27; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5363G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.615025	0.28712	.	.	ENSG00000142449	ENST00000270509	D	0.92446	-3.04	3.39	2.34	0.29019	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.060982	0.64402	N	0.000004	D	0.84238	0.5428	L	0.31845	0.965	0.47547	D	0.999459	P	0.42757	0.789	B	0.34590	0.186	T	0.80507	-0.1352	10	0.45353	T	0.12	.	10.05	0.42210	0.0:0.8971:0.0:0.1029	.	1788	Q75N90	FBN3_HUMAN	H	1788	ENSP00000270509:R1788H	ENSP00000270509:R1788H	R	-	2	0	FBN3	8067815	1.000000	0.71417	0.971000	0.41717	0.089000	0.18198	2.133000	0.42093	0.524000	0.28502	-0.215000	0.12644	CGC		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	58	0	0	0	1	0	5	58				
CHMP1A	5119	broad.mit.edu	37	16	89712451	89712451	+	3'UTR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89712451C>T	ENST00000397901.3	-	0	870				CHMP1A_ENST00000253475.5_Silent_p.P198P|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000535997.2_3'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGGCAGAGGCGGTGCACACC	0.687																																						ENST00000253475.5																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(592-594)ccG>ccA		charged multivesicular body protein 1A							36.0	46.0	43.0					16																	89712451		2072	4189	6261	SO:0001624	3_prime_UTR_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89712451C>T	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.*23G>A	16.37:g.89712451C>T						CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	p.P198P	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	6	726	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	0					A2RU09|Q14468|Q15779|Q96G31	Silent	SNP	ENST00000397901.3	37	c.594G>A	CCDS45552.1																																																																																				0.687	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		16	18	0	0	0	1	0	16	18				
WWC2	80014	broad.mit.edu	37	4	184175070	184175070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184175070G>A	ENST00000403733.3	+	9	1313	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	WWC2_ENST00000448232.2_Missense_Mutation_p.E372K|WWC2_ENST00000513834.1_Missense_Mutation_p.E372K|WWC2_ENST00000504005.1_Missense_Mutation_p.E54K|WWC2_ENST00000378925.3_Missense_Mutation_p.E274K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	372					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(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGATGAATTAGAACGCCTAGA	0.458																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1114-1116)Gaa>Aaa		WW and C2 domain containing 2							69.0	74.0	72.0					4																	184175070		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184175070G>A	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1114G>A	4.37:g.184175070G>A	ENSP00000384222:p.Glu372Lys					WWC2_ENST00000448232.2_Missense_Mutation_p.E372K|WWC2_ENST00000513834.1_Missense_Mutation_p.E372K|WWC2_ENST00000378925.3_Missense_Mutation_p.E274K|WWC2_ENST00000504005.1_Missense_Mutation_p.E54K	p.E372K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	9	1313	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	372					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1114G>A	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047991	0.36085	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.12569	3.44;2.67;3.45;3.31;3.31	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.14570	0.0352	L	0.52905	1.665	0.46167	D	0.998908	B	0.14012	0.009	B	0.11329	0.006	T	0.05733	-1.0867	10	0.15499	T	0.54	-22.0483	14.091	0.64990	0.071:0.0:0.929:0.0	.	372	Q6AWC2	WWC2_HUMAN	K	372;274;372;372;54	ENSP00000384222:E372K;ENSP00000368205:E274K;ENSP00000425054:E372K;ENSP00000398577:E372K;ENSP00000427569:E54K	ENSP00000368205:E274K	E	+	1	0	WWC2	184412064	1.000000	0.71417	0.487000	0.27428	0.004000	0.04260	5.217000	0.65252	2.941000	0.99782	0.655000	0.94253	GAA		0.458	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		12	13	0	0	0	1	0	12	13				
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1753-1755)gaC>gaT		SECIS binding protein 2							135.0	114.0	121.0					9																	91964707		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91964707C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1755C>T	9.37:g.91964707C>T						SECISBP2_ENST00000339901.4_Silent_p.D512D|SECISBP2_ENST00000534113.2_Silent_p.D517D	p.D585D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			13	1826	+			585					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.1755C>T	CCDS6683.1																																																																																				0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		10	61	0	0	0	1	0	10	61				
ATP7A	538	broad.mit.edu	37	X	77267082	77267082	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77267082C>A	ENST00000341514.6	+	9	2238	c.2083C>A	c.(2083-2085)Ctt>Att	p.L695I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.L695I	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	695					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATGATCAACCTTCATTCTTC	0.383																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(2083-2085)Ctt>Att		ATPase, Cu++ transporting, alpha polypeptide							244.0	231.0	235.0					X																	77267082		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267082C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2083C>A	X.37:g.77267082C>A	ENSP00000345728:p.Leu695Ile					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.L695I	p.L695I	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			9	2238	+			695					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2083C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	2.976	-0.211460	0.06140	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.96300	-3.9;-3.97	5.51	-2.17	0.07059	.	0.531595	0.20313	N	0.094788	D	0.84515	0.5489	N	0.04959	-0.14	0.33589	D	0.600868	B	0.02656	0.0	B	0.04013	0.001	T	0.71994	-0.4424	10	0.22706	T	0.39	-1.0442	0.1327	0.00075	0.2944:0.2394:0.1696:0.2967	.	695	Q04656	ATP7A_HUMAN	I	695	ENSP00000343026:L695I;ENSP00000345728:L695I	ENSP00000345728:L695I	L	+	1	0	ATP7A	77153738	0.023000	0.18921	0.111000	0.21465	0.081000	0.17604	0.444000	0.21661	-0.332000	0.08489	-1.195000	0.01675	CTT		0.383	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		81	171	1	0	2.36143e-25	1	3.13922e-25	81	171				
LRRC39	127495	broad.mit.edu	37	1	100633981	100633981	+	Missense_Mutation	SNP	C	C	T	rs370508235		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100633981C>T	ENST00000370137.1	-	3	290	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LRRC39_ENST00000342895.3_Missense_Mutation_p.R31Q|LRRC39_ENST00000370138.1_Missense_Mutation_p.R31Q	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCCTTCTCTCGCTTCAGGTC	0.323																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(91-93)cGa>cAa		leucine rich repeat containing 39		C	GLN/ARG	0,4406		0,0,2203	162.0	147.0	152.0		92	4.8	1.0	1		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC39	NM_144620.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	31/336	100633981	1,13005	2203	4300	6503	SO:0001583	missense	127495							g.chr1:100633981C>T	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.92G>A	1.37:g.100633981C>T	ENSP00000359156:p.Arg31Gln					LRRC39_ENST00000370137.1_Missense_Mutation_p.R31Q|LRRC39_ENST00000342895.3_Missense_Mutation_p.R31Q	p.R31Q	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	3	290	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	31					B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	c.92G>A	CCDS766.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093715	0.36952	0.0	1.16E-4	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.00335	8.06;8.06;8.06	5.74	4.83	0.62350	.	0.000000	0.41823	D	0.000802	T	0.00039	0.0001	L	0.27053	0.805	0.27833	N	0.941361	P;P	0.39352	0.669;0.539	B;B	0.24394	0.053;0.009	T	0.00003	-1.2596	10	0.07175	T	0.84	.	7.7982	0.29160	0.0:0.7802:0.0:0.2198	.	31;31	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	Q	31	ENSP00000359156:R31Q;ENSP00000359157:R31Q;ENSP00000344470:R31Q	ENSP00000344470:R31Q	R	-	2	0	LRRC39	100406569	0.996000	0.38824	1.000000	0.80357	0.807000	0.45602	0.218000	0.17622	1.427000	0.47276	0.563000	0.77884	CGA		0.323	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		6	62	0	0	0	1	0	6	62				
ZNF780A	284323	broad.mit.edu	37	19	40581101	40581101	+	Silent	SNP	T	T	C	rs200781950		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40581101T>C	ENST00000595687.2	-	6	1457	c.1248A>G	c.(1246-1248)ccA>ccG	p.P416P	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Silent_p.P382P|ZNF780A_ENST00000340963.5_Silent_p.P416P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.P417P|ZNF780A_ENST00000455521.1_Silent_p.P417P	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACATTCATATGGTTTTATAC	0.383																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1144-1146)ccA>ccG		zinc finger protein 780A							180.0	183.0	182.0					19																	40581101		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581101T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1248A>G	19.37:g.40581101T>C						ZNF780A_ENST00000340963.5_Silent_p.P416P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.P417P|ZNF780A_ENST00000594395.1_Silent_p.P417P|ZNF780A_ENST00000595687.2_Silent_p.P416P|ZNF780A_ENST00000414720.2_Intron	p.P382P			O75290	Z780A_HUMAN			6	1457	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		416					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1146A>G	CCDS33026.2																																																																																				0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		18	231	0	0	0	1	0	18	231				
ARHGAP15	55843	broad.mit.edu	37	2	144193179	144193179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144193179G>A	ENST00000295095.6	+	7	651	c.484G>A	c.(484-486)Gta>Ata	p.V162I	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000442794.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	162	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.V162L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCACAACAGTATCAGGAAA	0.299																																						ENST00000295095.6																			1	Substitution - Missense(1)	p.V162L(1)	ovary(1)	endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(484-486)Gta>Ata		Rho GTPase activating protein 15							93.0	84.0	87.0					2																	144193179		2203	4299	6502	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144193179G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.484G>A	2.37:g.144193179G>A	ENSP00000295095:p.Val162Ile					AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA	p.V162I	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	7	651	+			162			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.484G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	9.687	1.150913	0.21371	.	.	ENSG00000075884	ENST00000295095	T	0.75367	-0.93	5.47	0.932	0.19466	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.242940	0.05219	N	0.508190	T	0.62563	0.2438	L	0.38175	1.15	0.25180	N	0.99021	B;B	0.06786	0.001;0.001	B;B	0.14023	0.003;0.01	T	0.37314	-0.9711	10	0.19147	T	0.46	.	5.8033	0.18426	0.1643:0.0:0.3058:0.5299	.	162;162	B4E0R3;Q53QZ3	.;RHG15_HUMAN	I	162	ENSP00000295095:V162I	ENSP00000295095:V162I	V	+	1	0	ARHGAP15	143909649	0.993000	0.37304	0.650000	0.29550	0.867000	0.49689	0.887000	0.28254	-0.061000	0.13110	-0.188000	0.12872	GTA		0.299	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		11	13	0	0	0	1	0	11	13				
ITGA1	3672	broad.mit.edu	37	5	52216289	52216289	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52216289C>A	ENST00000282588.6	+	17	2741	c.2283C>A	c.(2281-2283)ttC>ttA	p.F761L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	761					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGCACTCCTTCTACATGTTGG	0.348																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2281-2283)ttC>ttA		integrin, alpha 1							116.0	107.0	110.0					5																	52216289		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52216289C>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2283C>A	5.37:g.52216289C>A	ENSP00000282588:p.Phe761Leu						p.F761L	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			17	2741	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	761					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.2283C>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118286	0.94385	.	.	ENSG00000213949	ENST00000282588	T	0.42513	0.97	6.17	6.17	0.99709	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.54323	1.7	0.58432	D	0.999999	D	0.59767	0.986	D	0.64877	0.93	T	0.40757	-0.9546	10	0.07990	T	0.79	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	761	P56199	ITA1_HUMAN	L	761	ENSP00000282588:F761L	ENSP00000282588:F761L	F	+	3	2	ITGA1	52252046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.968000	0.70413	2.941000	0.99782	0.655000	0.94253	TTC		0.348	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		23	27	1	0	5.35356e-11	1	6.64197e-11	23	27				
GOLGA5	9950	broad.mit.edu	37	14	93303730	93303730	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93303730G>T	ENST00000163416.2	+	12	2307		c.e12-1		GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5						Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGTCTGCACAGTATTCGCCTG	0.368			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.e12-1		golgin A5							127.0	139.0	135.0					14																	93303730		2203	4300	6503	SO:0001630	splice_region_variant	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93303730G>T	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2052-1G>T	14.37:g.93303730G>T						GOLGA5_ENST00000355976.2_Intron		NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	12	2307	+		all_cancers(154;0.0934)						C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Splice_Site	SNP	ENST00000163416.2	37		CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818366	0.71028	.	.	ENSG00000066455	ENST00000163416;ENST00000439315	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.174	0.89756	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GOLGA5	92373483	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.051000	0.93849	2.510000	0.84645	0.650000	0.86243	.		0.368	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		Intron	6	244	1	0	0.000274275	1	0.000298791	6	244				
C1orf127	148345	broad.mit.edu	37	1	11018798	11018798	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11018798G>T	ENST00000377008.4	-	6	527	c.81C>A	c.(79-81)ccC>ccA	p.P27P	C1orf127_ENST00000377004.4_Silent_p.P176P			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	27										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGGGGCAGGGGCCGGGAGA	0.572																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(526-528)ccC>ccA		chromosome 1 open reading frame 127							76.0	72.0	73.0					1																	11018798		2203	4300	6503	SO:0001819	synonymous_variant	148345							g.chr1:11018798G>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.81C>A	1.37:g.11018798G>T						C1orf127_ENST00000377008.4_Silent_p.P27P	p.P176P	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	6	527	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	27					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.528C>A		.	.	.	.	.	.	.	.	.	.	G	9.148	1.015608	0.19355	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	T;T	0.50813	1.06;0.73	5.26	-3.5	0.04710	.	1.123710	0.06910	N	0.807533	T	0.40791	0.1131	.	.	.	0.37447	D	0.914642	.	.	.	.	.	.	T	0.53415	-0.8442	7	0.87932	D	0	-8.6711	0.2895	0.00256	0.2457:0.2451:0.2593:0.2499	.	.	.	.	H	29;154	ENSP00000387816:P29H;ENSP00000429704:P154H	ENSP00000387816:P29H	P	-	2	0	C1orf127	10941385	0.005000	0.15991	0.057000	0.19452	0.978000	0.69477	-0.640000	0.05440	-0.622000	0.05626	0.655000	0.94253	CCC		0.572	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		12	32	1	0	9.05144e-12	1	1.1316e-11	12	32				
KMT2D	8085	broad.mit.edu	37	12	49445725	49445725	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49445725T>C	ENST00000301067.7	-	10	1740	c.1741A>G	c.(1741-1743)Atg>Gtg	p.M581V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	581	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGAGGGGACATGGGTGACTCC	0.577																																						ENST00000301067.7																			0											c.(1741-1743)Atg>Gtg		lysine (K)-specific methyltransferase 2D							115.0	119.0	117.0					12																	49445725		2143	4239	6382	SO:0001583	missense	8085							g.chr12:49445725T>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1741A>G	12.37:g.49445725T>C	ENSP00000301067:p.Met581Val						p.M581V	NM_003482.3	NP_003473.3					10	1740	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1741A>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	5.773	0.327015	0.10900	.	.	ENSG00000167548	ENST00000301067	T	0.75589	-0.95	3.84	1.33	0.21861	.	.	.	.	.	T	0.51210	0.1661	N	0.08118	0	0.19575	N	0.999964	B	0.06786	0.001	B	0.06405	0.002	T	0.44236	-0.9341	9	0.87932	D	0	.	5.0891	0.14698	0.1794:0.0:0.3704:0.4503	.	581	O14686	MLL2_HUMAN	V	581	ENSP00000301067:M581V	ENSP00000301067:M581V	M	-	1	0	MLL2	47731992	0.911000	0.30947	0.977000	0.42913	0.912000	0.54170	0.295000	0.19065	0.270000	0.21984	0.260000	0.18958	ATG		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	112	0	0	0	1	0	8	112				
ZNF551	90233	broad.mit.edu	37	19	58198994	58198994	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58198994G>A	ENST00000282296.5	+	3	1536	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E435K|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAATGCAGAGAATGTGGGAA	0.428																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1351-1353)Gaa>Aaa		zinc finger protein 551							80.0	83.0	82.0					19																	58198994		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198994G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1351G>A	19.37:g.58198994G>A	ENSP00000282296:p.Glu451Lys					ZNF551_ENST00000356715.4_Missense_Mutation_p.E435K|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.E451K	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1536	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	451					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1351G>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760707	0.31137	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.48	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20536	0.0494	N	0.11131	0.1	0.09310	N	1	B	0.31655	0.334	B	0.32762	0.152	T	0.22347	-1.0219	8	0.46703	T	0.11	.	10.3066	0.43685	0.0:0.2033:0.7967:0.0	.	451	Q7Z340	ZN551_HUMAN	K	451;435;234	.	ENSP00000282296:E435K	E	+	1	0	ZNF551	62890806	0.000000	0.05858	0.021000	0.16686	0.028000	0.11728	0.045000	0.14013	1.389000	0.46526	0.555000	0.69702	GAA		0.428	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		33	53	0	0	0	1	0	33	53				
FAM83A	84985	broad.mit.edu	37	8	124195134	124195134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124195134G>A	ENST00000518448.1	+	2	2052	c.38G>A	c.(37-39)cGt>cAt	p.R13H	RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000522648.1_Missense_Mutation_p.R13H|FAM83A_ENST00000276699.6_Missense_Mutation_p.R13H|FAM83A_ENST00000536633.1_Missense_Mutation_p.R13H|U3_ENST00000408534.1_RNA|FAM83A_ENST00000318462.6_Missense_Mutation_p.R13H|FAM83A_ENST00000546351.1_Missense_Mutation_p.R13H			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	13										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCCGGAAGCGTCTGGAAGAT	0.647																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(37-39)cGt>cAt		family with sequence similarity 83, member A							14.0	14.0	14.0					8																	124195134		2191	4287	6478	SO:0001583	missense	84985							g.chr8:124195134G>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.38G>A	8.37:g.124195134G>A	ENSP00000428876:p.Arg13His					FAM83A_ENST00000276699.6_Missense_Mutation_p.R13H|FAM83A_ENST00000546351.1_Missense_Mutation_p.R13H|FAM83A_ENST00000318462.6_Missense_Mutation_p.R13H|FAM83A_ENST00000522648.1_Missense_Mutation_p.R13H|FAM83A_ENST00000536633.1_Missense_Mutation_p.R13H	p.R13H			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2052	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		13					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.38G>A	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230803	0.95207	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.21361	2.01;2.05;2.11;2.01;2.05;2.11	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.62723	1.935	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.44757	-0.9307	10	0.87932	D	0	-19.6608	18.378	0.90441	0.0:0.0:1.0:0.0	.	13;13;13	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	H	13	ENSP00000428876:R13H;ENSP00000440565:R13H;ENSP00000445218:R13H;ENSP00000323034:R13H;ENSP00000427979:R13H;ENSP00000276699:R13H	ENSP00000276699:R13H	R	+	2	0	FAM83A	124264315	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	8.974000	0.93433	2.419000	0.82065	0.462000	0.41574	CGT		0.647	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		3	11	0	0	0	1	0	3	11				
GPR98	84059	broad.mit.edu	37	5	89953850	89953850	+	Missense_Mutation	SNP	G	G	A	rs201391886		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89953850G>A	ENST00000405460.2	+	21	4603	c.4507G>A	c.(4507-4509)Gca>Aca	p.A1503T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1503	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCATGCCCGCAAAAAGTGA	0.408																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4507-4509)Gca>Aca		G protein-coupled receptor 98		G	THR/ALA	0,3740		0,0,1870	103.0	105.0	104.0		4507	5.0	1.0	5		104	1,8191		0,1,4095	yes	missense	GPR98	NM_032119.3	58	0,1,5965	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	1503/6307	89953850	1,11931	1870	4096	5966	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953850G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4507G>A	5.37:g.89953850G>A	ENSP00000384582:p.Ala1503Thr						p.A1503T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4603	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1503					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4507G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143692	0.57044	0.0	1.22E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28454	1.61	5.86	4.99	0.66335	Concanavalin A-like lectin/glucanase, subgroup (1);	0.096778	0.64402	D	0.000001	T	0.45637	0.1352	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.47509	-0.9112	10	0.72032	D	0.01	.	16.3408	0.83081	0.0:0.0:0.8668:0.1332	.	1503	Q8WXG9	GPR98_HUMAN	T	1503	ENSP00000384582:A1503T	ENSP00000296619:A1503T	A	+	1	0	GPR98	89989606	1.000000	0.71417	0.977000	0.42913	0.114000	0.19823	4.734000	0.62043	1.459000	0.47892	0.655000	0.94253	GCA		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		37	61	0	0	0	1	0	37	61				
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40050062G>T	ENST00000373233.3	-	31	5390	c.5213C>A	c.(5212-5214)tCa>tAa	p.S1738*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5212-5214)tCa>tAa		chromodomain helicase DNA binding protein 6							89.0	92.0	91.0					20																	40050062		2203	4300	6503	SO:0001587	stop_gained	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40050062G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5213C>A	20.37:g.40050062G>T	ENSP00000362330:p.Ser1738*						p.S1738*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5390	-		Myeloproliferative disorder(115;0.00425)	1738					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.5213C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	40	8.312991	0.98754	.	.	ENSG00000124177	ENST00000373233	.	.	.	6.03	5.0	0.66597	.	0.290117	0.25352	N	0.031290	.	.	.	.	.	.	0.22001	N	0.999429	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2026	11.7484	0.51835	0.1082:0.0:0.8918:0.0	.	.	.	.	X	1738	.	ENSP00000362330:S1738X	S	-	2	0	CHD6	39483476	0.275000	0.24201	0.073000	0.20177	0.002000	0.02628	1.859000	0.39418	2.861000	0.98227	0.655000	0.94253	TCA		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			51	41	1	0	1.39843e-22	1	1.84661e-22	51	41				
IRS1	3667	broad.mit.edu	37	2	227662846	227662846	+	Silent	SNP	G	G	A	rs546212101		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227662846G>A	ENST00000305123.5	-	1	1629	c.609C>T	c.(607-609)gcC>gcT	p.A203A	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	203	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCACCACGGCCGCTGCCT	0.592											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		18934	0.0		0.0	False		,,,				2504	0.001					ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(607-609)gcC>gcT		insulin receptor substrate 1							59.0	60.0	60.0					2																	227662846		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662846G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.609C>T	2.37:g.227662846G>A			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.A203A	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	203			IRS-type PTB.			Silent	SNP	ENST00000305123.5	37	c.609C>T	CCDS2463.1																																																																																				0.592	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		15	29	0	0	0	1	0	15	29				
PAK1IP1	55003	broad.mit.edu	37	6	10697569	10697569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10697569G>A	ENST00000379568.3	+	2	388	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	C6orf52_ENST00000460742.2_5'Flank|C6orf52_ENST00000379586.1_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000259983.3_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	33					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGACTCTTGTGGCTGACTT	0.438																																						ENST00000379568.3																			0				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(97-99)Gtg>Atg		PAK1 interacting protein 1							218.0	224.0	222.0					6																	10697569		2203	4300	6503	SO:0001583	missense	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10697569G>A	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.97G>A	6.37:g.10697569G>A	ENSP00000368887:p.Val33Met						p.V33M	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN			2	388	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	33					Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	c.97G>A	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485284	0.44147	.	.	ENSG00000111845	ENST00000379568	T	0.54071	0.59	5.15	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.381500	0.29080	N	0.013203	T	0.31327	0.0793	L	0.38531	1.155	0.26617	N	0.972727	P	0.47191	0.891	P	0.46758	0.526	T	0.07790	-1.0754	10	0.45353	T	0.12	-7.3304	10.8268	0.46638	0.0:0.0:0.6566:0.3434	.	33	Q9NWT1	PK1IP_HUMAN	M	33	ENSP00000368887:V33M	ENSP00000368887:V33M	V	+	1	0	PAK1IP1	10805555	0.457000	0.25752	0.878000	0.34440	0.456000	0.32438	1.780000	0.38634	1.241000	0.43820	0.650000	0.86243	GTG		0.438	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		25	164	0	0	0	1	0	25	164				
SLC6A12	6539	broad.mit.edu	37	12	318999	318999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:318999C>A	ENST00000428720.1	-	3	897	c.154G>T	c.(154-156)Gag>Tag	p.E52*	SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.E52*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	52					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAATGATCTCCCCGGCCACT	0.562																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(154-156)Gag>Tag		solute carrier family 6 (neurotransmitter transporter), member 12							218.0	180.0	193.0					12																	318999		2203	4300	6503	SO:0001587	stop_gained	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:318999C>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.154G>T	12.37:g.318999C>A	ENSP00000388184:p.Glu52*					SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.E52*	p.E52*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		3	897	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		52					A0AV52|B2R992|D3DUN8	Nonsense_Mutation	SNP	ENST00000428720.1	37	c.154G>T	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	38	6.884473	0.97908	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793	.	.	.	5.57	5.57	0.84162	.	0.057170	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.1214	0.93365	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000352702:E52X	E	-	1	0	SLC6A12	189260	0.979000	0.34478	1.000000	0.80357	0.986000	0.74619	1.518000	0.35877	2.610000	0.88304	0.563000	0.77884	GAG		0.562	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		32	73	1	0	3.11337e-16	1	4.01248e-16	32	73				
CD163L1	283316	broad.mit.edu	37	12	7531861	7531861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7531861C>T	ENST00000313599.3	-	9	2141	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G705E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G695E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	695	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTGCTGCTTCCACCCACAAG	0.453																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2083-2085)gGa>gAa		CD163 molecule-like 1							86.0	69.0	75.0					12																	7531861		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531861C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2084G>A	12.37:g.7531861C>T	ENSP00000315945:p.Gly695Glu					CD163L1_ENST00000416109.2_Missense_Mutation_p.G705E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G695E	p.G695E			Q9NR16	C163B_HUMAN			9	2141	-			695			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2084G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244201	0.79912	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.59364	0.27;0.27;0.27	2.79	1.87	0.25490	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.36665	U	0.002479	T	0.75184	0.3815	M	0.89968	3.075	0.21386	N	0.999706	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.62210	-0.6902	10	0.72032	D	0.01	.	6.9468	0.24522	0.0:0.8482:0.0:0.1518	.	705;695	E7EVK4;Q9NR16	.;C163B_HUMAN	E	695;705;695	ENSP00000315945:G695E;ENSP00000393474:G705E;ENSP00000379871:G695E	ENSP00000315945:G695E	G	-	2	0	CD163L1	7423128	0.277000	0.24220	0.458000	0.27068	0.863000	0.49368	1.115000	0.31209	1.492000	0.48499	0.455000	0.32223	GGA		0.453	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		12	19	0	0	0	1	0	12	19				
SSPO	23145	broad.mit.edu	37	7	149523191	149523191	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149523191C>T	ENST00000378016.2	+	0	14277							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGGTGTGCCCACACCAGG	0.607																																						ENST00000378016.2																			0													SCO-spondin							39.0	46.0	43.0					7																	149523191		2061	4192	6253			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149523191C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149523191C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14277	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	70	0	0	0	1	0	4	70				
CWF19L1	55280	broad.mit.edu	37	10	102005616	102005616	+	Missense_Mutation	SNP	G	G	A	rs199591943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005616G>A	ENST00000354105.4	-	9	990	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C|CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	302							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTGGATGAACGCTTCCTTCCC	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21239	0.0		0.0	False		,,,				2504	0.0					ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(904-906)Cgt>Tgt		CWF19-like 1, cell cycle control (S. pombe)							141.0	133.0	136.0					10																	102005616		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:102005616G>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.904C>T	10.37:g.102005616G>A	ENSP00000326411:p.Arg302Cys					CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	p.R302C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	9	990	-		Colorectal(252;0.117)	302					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.904C>T	CCDS7489.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.0	4.232390	0.79688	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.26810	2.07;1.71	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.60924	-0.7166	10	0.72032	D	0.01	-11.2439	17.8645	0.88792	0.0:0.0:1.0:0.0	.	165;302	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	C	302;57	ENSP00000326411:R302C;ENSP00000359405:R57C	ENSP00000326411:R302C	R	-	1	0	CWF19L1	101995606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.951000	0.56684	2.894000	0.99253	0.591000	0.81541	CGT		0.398	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		11	87	0	0	0	1	0	11	87				
KANSL1	284058	broad.mit.edu	37	17	44171934	44171934	+	Missense_Mutation	SNP	C	C	A	rs547462953	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44171934C>A	ENST00000262419.6	-	3	1893	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S	KANSL1_ENST00000432791.1_Missense_Mutation_p.A475S|KANSL1_ENST00000574590.1_Missense_Mutation_p.A475S|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Missense_Mutation_p.A475S|KANSL1_ENST00000572904.1_Missense_Mutation_p.A475S	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	475					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ACCTTATTAGCACGTATCTGT	0.443																																						ENST00000262419.6																			0											c.(1423-1425)Gct>Tct		KAT8 regulatory NSL complex subunit 1							105.0	115.0	112.0					17																	44171934		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44171934C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1423G>T	17.37:g.44171934C>A	ENSP00000262419:p.Ala475Ser					KANSL1_ENST00000575318.1_Missense_Mutation_p.A475S|KANSL1_ENST00000574590.1_Missense_Mutation_p.A475S|KANSL1_ENST00000572904.1_Missense_Mutation_p.A475S|KANSL1_ENST00000432791.1_Missense_Mutation_p.A475S|KANSL1_ENST00000393476.3_5'UTR	p.A475S	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			3	1893	-			475					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1423G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490506	0.64074	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.56776	0.44;0.44	4.95	4.95	0.65309	.	0.174525	0.50627	D	0.000119	T	0.61035	0.2315	L	0.45422	1.42	0.80722	D	1	D;D	0.61697	0.99;0.971	D;P	0.65443	0.935;0.901	T	0.57406	-0.7817	10	0.34782	T	0.22	-10.3645	12.2817	0.54767	0.1697:0.8303:0.0:0.0	.	475;475	C9JHY2;Q7Z3B3	.;K1267_HUMAN	S	475	ENSP00000262419:A475S;ENSP00000387393:A475S	ENSP00000262419:A475S	A	-	1	0	KIAA1267	41527751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.973000	0.40550	2.449000	0.82847	0.655000	0.94253	GCT		0.443	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		9	79	1	0	0.000274275	1	0.000298791	9	79				
GLRA3	8001	broad.mit.edu	37	4	175598271	175598271	+	Silent	SNP	C	C	T	rs375320957		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:175598271C>T	ENST00000274093.3	-	7	1387	c.885G>A	c.(883-885)acG>acA	p.T295T	GLRA3_ENST00000340217.5_Silent_p.T295T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	295					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GTGTAGTCATCGTTAGCACAG	0.463																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(883-885)acG>acA		glycine receptor, alpha 3	Glycine(DB00145)						106.0	85.0	92.0					4																	175598271		2203	4300	6503	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175598271C>T	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.885G>A	4.37:g.175598271C>T						GLRA3_ENST00000340217.5_Silent_p.T295T	p.T295T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	7	1387	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	295					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.885G>A	CCDS3822.1																																																																																				0.463	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			19	28	0	0	0	1	0	19	28				
DNAH3	55567	broad.mit.edu	37	16	21080884	21080884	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21080884T>C	ENST00000261383.3	-	23	3232	c.3233A>G	c.(3232-3234)gAc>gGc	p.D1078G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1078G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1078	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCAAATTGTCTTGTATGCG	0.473																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3232-3234)gAc>gGc		dynein, axonemal, heavy chain 3							188.0	143.0	158.0					16																	21080884		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080884T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3233A>G	16.37:g.21080884T>C	ENSP00000261383:p.Asp1078Gly					DNAH3_ENST00000415178.1_Missense_Mutation_p.D1078G	p.D1078G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3232	-			1078			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3233A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292161	0.40594	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62788	-0.0;-0.0	5.4	4.28	0.50868	Dynein heavy chain, domain-2 (1);	0.405345	0.24534	N	0.037689	T	0.66587	0.2804	M	0.89287	3.02	0.38006	D	0.934372	B	0.14012	0.009	B	0.10450	0.005	T	0.68157	-0.5483	10	0.59425	D	0.04	.	10.3464	0.43909	0.0:0.1396:0.0:0.8604	.	1078	Q8TD57	DYH3_HUMAN	G	1078	ENSP00000261383:D1078G;ENSP00000394245:D1078G	ENSP00000261383:D1078G	D	-	2	0	DNAH3	20988385	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	4.188000	0.58351	0.960000	0.38005	0.533000	0.62120	GAC		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		20	62	0	0	0	1	0	20	62				
CNN2	1265	broad.mit.edu	37	19	1037633	1037633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1037633A>G	ENST00000263097.4	+	7	1027	c.664A>G	c.(664-666)Acg>Gcg	p.T222A	CNN2_ENST00000606983.1_3'UTR|ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000565096.2_Missense_Mutation_p.T211A|CNN2_ENST00000562958.2_Missense_Mutation_p.T243A|CNN2_ENST00000348419.3_Missense_Mutation_p.T183A|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	222					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGGCATGACGGCTCCCGG	0.617																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(664-666)Acg>Gcg		calponin 2							78.0	90.0	86.0					19																	1037633		2109	4119	6228	SO:0001583	missense	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037633A>G	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.664A>G	19.37:g.1037633A>G	ENSP00000263097:p.Thr222Ala					CNN2_ENST00000562958.2_Missense_Mutation_p.T243A|CNN2_ENST00000565096.2_Missense_Mutation_p.T211A|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.T183A	p.T222A	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1027	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	222					A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	c.664A>G	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	a	13.28	2.189310	0.38707	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.80566	-1.39;-1.39	4.26	3.22	0.36961	.	0.000000	0.85682	U	0.000000	T	0.81650	0.4867	M	0.86864	2.845	0.37915	D	0.931517	B;B;B;B	0.21606	0.01;0.02;0.045;0.058	B;B;B;B	0.28465	0.023;0.029;0.072;0.09	T	0.79825	-0.1640	10	0.66056	D	0.02	.	8.1863	0.31341	0.8207:0.0:0.0:0.1793	.	243;211;183;222	B4DUT8;B4DDF4;A6NFI4;Q99439	.;.;.;CNN2_HUMAN	A	222;183;201	ENSP00000263097:T222A;ENSP00000340129:T183A	ENSP00000263097:T222A	T	+	1	0	CNN2	988633	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	5.140000	0.64807	0.653000	0.30826	0.454000	0.30748	ACG		0.617	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		10	114	0	0	0	1	0	10	114				
XRCC5	7520	broad.mit.edu	37	2	217012882	217012882	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217012882C>A	ENST00000392133.3	+	16	2014	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	XRCC5_ENST00000392132.2_Missense_Mutation_p.P518H			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	518	Pro-rich.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATGCTGAATCCTCCCGCTGAG	0.438								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1552-1554)cCt>cAt	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							97.0	96.0	96.0					2																	217012882		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217012882C>A	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1553C>A	2.37:g.217012882C>A	ENSP00000375978:p.Pro518His					XRCC5_ENST00000392132.2_Missense_Mutation_p.P518H	p.P518H			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	16	2014	+		Renal(323;0.0328)	518			Pro-rich.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.1553C>A	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209830	0.58343	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.45668	0.89;0.89	5.62	5.62	0.85841	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.254541	0.38837	N	0.001549	T	0.63177	0.2489	M	0.75777	2.31	0.38551	D	0.949457	D	0.89917	1.0	D	0.66716	0.946	T	0.66555	-0.5894	10	0.49607	T	0.09	.	15.156	0.72743	0.0:1.0:0.0:0.0	.	518	P13010	XRCC5_HUMAN	H	518	ENSP00000375978:P518H;ENSP00000375977:P518H	ENSP00000375977:P518H	P	+	2	0	XRCC5	216721127	0.953000	0.32496	1.000000	0.80357	0.424000	0.31475	0.943000	0.29030	2.652000	0.90054	0.591000	0.81541	CCT		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		5	103	1	0	0.00116845	1	0.00124821	5	103				
DNAH10	196385	broad.mit.edu	37	12	124268500	124268500	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124268500G>T	ENST00000409039.3	+	8	848	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	275	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGTAAAGGCCCTCTGGC	0.438																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(823-825)Ggc>Tgc		dynein, axonemal, heavy chain 10							67.0	64.0	65.0					12																	124268500		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124268500G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.823G>T	12.37:g.124268500G>T	ENSP00000386770:p.Gly275Cys						p.G275C	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	8	848	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		275			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.823G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751239	0.89753	.	.	ENSG00000197653	ENST00000409039	T	0.59502	0.26	6.01	6.01	0.97437	Dynein heavy chain, domain-1 (1);	0.068569	0.56097	D	0.000025	T	0.82181	0.4981	M	0.90252	3.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.84415	0.0568	10	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	275	Q8IVF4	DYH10_HUMAN	C	275	ENSP00000386770:G275C	ENSP00000386770:G275C	G	+	1	0	DNAH10	122834453	1.000000	0.71417	0.972000	0.41901	0.911000	0.54048	9.440000	0.97547	2.861000	0.98227	0.650000	0.86243	GGC		0.438	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			11	21	1	0	1.11149e-13	1	1.41171e-13	11	21				
COL4A6	1288	broad.mit.edu	37	X	107436903	107436903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107436903G>A	ENST00000372216.4	-	17	1130	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	COL4A6_ENST00000545689.1_Missense_Mutation_p.P343S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P343S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P344S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P343S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	344	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTGGGCCTGGCAGGCCAATG	0.383									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1030-1032)Cca>Tca		collagen, type IV, alpha 6							117.0	113.0	114.0					X																	107436903		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107436903G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1030C>T	X.37:g.107436903G>A	ENSP00000361290:p.Pro344Ser					COL4A6_ENST00000372216.4_Missense_Mutation_p.P344S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P343S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P343S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P343S	p.P344S			Q14031	CO4A6_HUMAN			17	1261	-			344			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1030C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307752	0.40795	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96587	-4.06;-4.06;-3.14;-4.06;-4.06	5.12	5.12	0.69794	.	0.186207	0.26578	N	0.023587	D	0.96978	0.9013	M	0.76433	2.335	0.33004	D	0.526637	D;D;P;D	0.57257	0.961;0.979;0.935;0.961	P;P;P;P	0.53689	0.732;0.732;0.544;0.732	D	0.98979	1.0804	10	0.38643	T	0.18	.	16.9128	0.86144	0.0:0.0:1.0:0.0	.	343;343;344;343	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	344;343;344;343;343;343	ENSP00000361290:P344S;ENSP00000334733:P343S;ENSP00000378340:P344S;ENSP00000443707:P343S;ENSP00000445236:P343S	ENSP00000334733:P343S	P	-	1	0	COL4A6	107323559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.570000	0.67398	2.457000	0.83068	0.594000	0.82650	CCA		0.383	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			51	89	0	0	0	1	0	51	89				
GBF1	8729	broad.mit.edu	37	10	104136704	104136704	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104136704A>C	ENST00000369983.3	+	33	4558	c.4298A>C	c.(4297-4299)cAg>cCg	p.Q1433P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1433					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAAGTCCCAGGAGAAACGT	0.517																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4297-4299)cAg>cCg		golgi brefeldin A resistant guanine nucleotide exchange factor 1							87.0	83.0	84.0					10																	104136704		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136704A>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4298A>C	10.37:g.104136704A>C	ENSP00000359000:p.Gln1433Pro						p.Q1433P	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	33	4558	+		Colorectal(252;0.0236)	1433					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4298A>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085087	0.36758	.	.	ENSG00000107862	ENST00000369983	T	0.10477	2.87	5.22	5.22	0.72569	.	0.205979	0.52532	D	0.000080	T	0.11239	0.0274	L	0.47716	1.5	0.52501	D	0.99995	P;P;B	0.47302	0.893;0.793;0.0	B;B;B	0.37144	0.242;0.171;0.001	T	0.03619	-1.1019	10	0.52906	T	0.07	-12.9912	15.2726	0.73717	1.0:0.0:0.0:0.0	.	1433;1433;1433	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	1433	ENSP00000359000:Q1433P	ENSP00000359000:Q1433P	Q	+	2	0	GBF1	104126694	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.536000	0.73842	2.192000	0.70111	0.459000	0.35465	CAG		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			4	47	0	0	0	1	0	4	47				
NUP210L	91181	broad.mit.edu	37	1	154029414	154029414	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154029414C>A	ENST00000368559.3	-	23	3188	c.3117G>T	c.(3115-3117)gaG>gaT	p.E1039D	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1039D|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1039					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CGTCCTGTTGCTCCATTGGTC	0.433																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3115-3117)gaG>gaT		nucleoporin 210kDa-like							129.0	117.0	121.0					1																	154029414		1871	4109	5980	SO:0001583	missense	91181					integral to membrane		g.chr1:154029414C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3117G>T	1.37:g.154029414C>A	ENSP00000357547:p.Glu1039Asp					NUP210L_ENST00000271854.3_Missense_Mutation_p.E1039D	p.E1039D	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		23	3188	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1039					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3117G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857577	0.17106	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06768	3.53;3.26	4.95	3.03	0.35002	.	0.195969	0.35646	N	0.003067	T	0.01558	0.0050	L	0.29908	0.895	0.34129	D	0.665077	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.002	T	0.42949	-0.9421	10	0.07990	T	0.79	-1.7706	7.9883	0.30224	0.0:0.7512:0.1607:0.0881	.	1039;1039	E7EP56;Q5VU65	.;P210L_HUMAN	D	1039	ENSP00000357547:E1039D;ENSP00000271854:E1039D	ENSP00000271854:E1039D	E	-	3	2	NUP210L	152296038	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	1.064000	0.30579	0.633000	0.30452	0.650000	0.86243	GAG		0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		40	43	1	0	2.40579e-17	1	3.11917e-17	40	43				
ATE1	11101	broad.mit.edu	37	10	123658440	123658440	+	Intron	SNP	C	C	T	rs544632258		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658440C>T	ENST00000224652.6	-	7	1028				ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000540606.1_Silent_p.S279S|ATE1_ENST00000369043.3_Silent_p.S286S|ATE1_ENST00000369040.3_Silent_p.S190S|ATE1_ENST00000481784.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGCTGAAAGACGACTTGAACT	0.433																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(856-858)tcG>tcA		arginyltransferase 1							184.0	152.0	163.0					10																	123658440		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658440C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+940G>A	10.37:g.123658440C>T						ATE1_ENST00000540606.1_Silent_p.S279S|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000369040.3_Silent_p.S190S	p.S286S	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			7	944	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	286					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.858G>A	CCDS31300.1																																																																																				0.433	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		33	32	0	0	0	1	0	33	32				
TACC3	10460	broad.mit.edu	37	4	1729693	1729693	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1729693C>A	ENST00000313288.4	+	4	670	c.564C>A	c.(562-564)tcC>tcA	p.S188S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	188					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACCTTAGTTCCTATTCCTTAG	0.557																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(562-564)tcC>tcA		transforming, acidic coiled-coil containing protein 3							49.0	56.0	54.0					4																	1729693		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1729693C>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.564C>A	4.37:g.1729693C>A							p.S188S	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	670	+		Breast(71;0.212)|all_epithelial(65;0.241)	188					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.564C>A	CCDS3352.1																																																																																				0.557	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			7	38	1	0	0.248553	1	0.25002	7	38				
SEH1L	81929	broad.mit.edu	37	18	12951898	12951898	+	Missense_Mutation	SNP	C	C	A	rs573360501	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12951898C>A	ENST00000262124.11	+	2	283	c.156C>A	c.(154-156)agC>agA	p.S52R	SEH1L_ENST00000399892.2_Missense_Mutation_p.S52R	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	52					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTACTGCTAGCTGGAAGGTTA	0.244																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(154-156)agC>agA		SEH1-like (S. cerevisiae)							90.0	97.0	95.0					18																	12951898		2202	4298	6500	SO:0001583	missense	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12951898C>A	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.156C>A	18.37:g.12951898C>A	ENSP00000262124:p.Ser52Arg					SEH1L_ENST00000399892.2_Missense_Mutation_p.S52R	p.S52R	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			2	283	+			52					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.156C>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664767	0.67700	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.60920	0.15;0.15	5.48	1.62	0.23740	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.073613	0.85682	D	0.000000	T	0.63674	0.2531	L	0.49513	1.565	0.58432	D	0.999997	P;D	0.56287	0.924;0.975	P;P	0.59643	0.786;0.861	T	0.61662	-0.7017	10	0.59425	D	0.04	-13.0966	10.786	0.46405	0.0:0.7359:0.0:0.2641	.	52;52	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	R	52	ENSP00000382779:S52R;ENSP00000262124:S52R	ENSP00000262124:S52R	S	+	3	2	SEH1L	12941898	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	0.630000	0.24553	0.014000	0.14944	0.491000	0.48974	AGC		0.244	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	96	1	0	1.58986e-06	1	1.84011e-06	9	96				
METTL2B	55798	broad.mit.edu	37	7	128141876	128141876	+	Missense_Mutation	SNP	G	G	A	rs376554951		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128141876G>A	ENST00000262432.8	+	9	1080	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	METTL2B_ENST00000480046.1_Missense_Mutation_p.R283H	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	348					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGGTGGACCGCCGACTGCAG	0.493																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(847-849)cGc>cAc		methyltransferase like 2B		G	HIS/ARG	0,4406		0,0,2203	108.0	111.0	110.0		1043	1.5	1.0	7		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	METTL2B	NM_018396.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	348/379	128141876	1,13005	2203	4300	6503	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128141876G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.1043G>A	7.37:g.128141876G>A	ENSP00000262432:p.Arg348His					METTL2B_ENST00000262432.8_Missense_Mutation_p.R348H	p.R283H			Q6P1Q9	MTL2B_HUMAN			8	963	+			348					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.848G>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687790	0.29962	0.0	1.16E-4	ENSG00000165055	ENST00000262432;ENST00000480046;ENST00000481392	T;T;T	0.04406	3.63;3.63;3.63	3.44	1.55	0.23275	.	0.205137	0.51477	N	0.000087	T	0.06462	0.0166	L	0.58510	1.815	0.58432	D	0.999999	B;B	0.34349	0.45;0.322	B;B	0.37422	0.249;0.099	T	0.26950	-1.0088	10	0.49607	T	0.09	1.6372	7.6098	0.28124	0.2298:0.0:0.7702:0.0	.	283;348	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	H	348;283;112	ENSP00000262432:R348H;ENSP00000418402:R283H;ENSP00000418989:R112H	ENSP00000262432:R348H	R	+	2	0	METTL2B	127929112	1.000000	0.71417	0.977000	0.42913	0.503000	0.33858	4.038000	0.57318	0.742000	0.32697	0.195000	0.17529	CGC		0.493	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		92	59	0	0	0	1	0	92	59				
NFAT5	10725	broad.mit.edu	37	16	69727997	69727997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69727997G>A	ENST00000354436.2	+	12	4533	c.4215G>A	c.(4213-4215)atG>atA	p.M1405I	NFAT5_ENST00000566899.1_Missense_Mutation_p.M1329I|NFAT5_ENST00000349945.1_Missense_Mutation_p.M1329I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M1422I|NFAT5_ENST00000432919.1_Missense_Mutation_p.M1423I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M1329I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1405					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGAACAACATGCCTGGAATTC	0.453																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3985-3987)atG>atA		nuclear factor of activated T-cells 5, tonicity-responsive							127.0	114.0	118.0					16																	69727997		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727997G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4215G>A	16.37:g.69727997G>A	ENSP00000346420:p.Met1405Ile					NFAT5_ENST00000432919.1_Missense_Mutation_p.M1423I|NFAT5_ENST00000354436.2_Missense_Mutation_p.M1405I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M1329I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M1422I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M1329I	p.M1329I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	5539	+			1405					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3987G>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	4.418	0.077259	0.08485	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.6	1.34	0.21922	.	0.544435	0.20712	N	0.087077	T	0.18841	0.0452	N	0.11427	0.14	0.28694	N	0.904431	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23797	-1.0178	10	0.13470	T	0.59	-0.2681	7.4914	0.27464	0.141:0.256:0.603:0.0	.	1422;1405;1423	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	1423;1422;1329;1405;1329	ENSP00000396538:M1423I;ENSP00000338806:M1329I;ENSP00000346420:M1405I;ENSP00000377343:M1329I	ENSP00000338806:M1329I	M	+	3	0	NFAT5	68285498	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	2.238000	0.43070	0.030000	0.15379	-0.137000	0.14449	ATG		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		31	39	0	0	0	1	0	31	39				
CHRM4	1132	broad.mit.edu	37	11	46407677	46407677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46407677C>T	ENST00000433765.2	-	1	430	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	144					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTTGGTGGTGCGCCGGGCAGG	0.582																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(430-432)cGc>cAc		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						55.0	66.0	62.0					11																	46407677		2181	4292	6473	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407677C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.431G>A	11.37:g.46407677C>T	ENSP00000409378:p.Arg144His						p.R144H	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	430	-			144					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.431G>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315348	0.81358	.	.	ENSG00000180720	ENST00000433765	T	0.39787	1.06	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.68613	0.3020	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74532	-0.3634	9	0.87932	D	0	-11.4198	18.077	0.89430	0.0:1.0:0.0:0.0	.	144	P08173	ACM4_HUMAN	H	144	ENSP00000409378:R144H	ENSP00000409378:R144H	R	-	2	0	CHRM4	46364253	1.000000	0.71417	0.492000	0.27490	0.965000	0.64279	7.643000	0.83403	2.494000	0.84150	0.462000	0.41574	CGC		0.582	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		5	11	0	0	0	1	0	5	11				
CDHR3	222256	broad.mit.edu	37	7	105662783	105662783	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105662783C>T	ENST00000317716.9	+	14	2045	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	CDHR3_ENST00000542731.1_Silent_p.D655D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Silent_p.D567D	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TAACTGATGACAACTTGATGT	0.463																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1963-1965)gaC>gaT		cadherin-related family member 3							200.0	189.0	192.0					7																	105662783		2008	4186	6194	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105662783C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1965C>T	7.37:g.105662783C>T						CDHR3_ENST00000478080.1_Silent_p.D567D|CDHR3_ENST00000317716.9_Silent_p.D655D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron	p.D655D			Q6ZTQ4	CDHR3_HUMAN			14	2073	+			655			Cadherin 6.		Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.1965C>T	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	7.192	0.591798	0.13812	.	.	ENSG00000128536	ENST00000468477	.	.	.	5.39	3.59	0.41128	.	.	.	.	.	T	0.62380	0.2423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59177	-0.7503	4	.	.	.	-27.5532	11.8308	0.52295	0.0:0.8576:0.0:0.1424	.	.	.	.	I	124	.	.	T	+	2	0	CDHR3	105450019	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	1.207000	0.32333	0.765000	0.33221	0.655000	0.94253	ACA		0.463	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		101	65	0	0	0	1	0	101	65				
SPTBN2	6712	broad.mit.edu	37	11	66472098	66472098	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66472098G>A	ENST00000533211.1	-	15	2980	c.2649C>T	c.(2647-2649)cgC>cgT	p.R883R	SPTBN2_ENST00000309996.2_Silent_p.R883R|SPTBN2_ENST00000529997.1_Silent_p.R883R			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	883					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGTCCTCCAGGCGTTCAGGCA	0.687																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(2647-2649)cgC>cgT		spectrin, beta, non-erythrocytic 2							24.0	21.0	22.0					11																	66472098		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472098G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2649C>T	11.37:g.66472098G>A						SPTBN2_ENST00000529997.1_Silent_p.R883R|SPTBN2_ENST00000309996.2_Silent_p.R883R	p.R883R			O15020	SPTN2_HUMAN			15	2980	-			883					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.2649C>T	CCDS8150.1																																																																																				0.687	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		3	11	0	0	0	1	0	3	11				
TAS2R9	50835	broad.mit.edu	37	12	10962216	10962216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962216C>T	ENST00000240691.2	-	1	551	c.459G>A	c.(457-459)tgG>tgA	p.W153*	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	153					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAAGGTGATACCACATATCAT	0.378																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(457-459)tgG>tgA		taste receptor, type 2, member 9							54.0	55.0	55.0					12																	10962216		2203	4300	6503	SO:0001587	stop_gained	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962216C>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.459G>A	12.37:g.10962216C>T	ENSP00000240691:p.Trp153*						p.W153*	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	551	-			153					Q502V7|Q50KT0|Q50KT1|Q645W9	Nonsense_Mutation	SNP	ENST00000240691.2	37	c.459G>A	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950641	0.53186	.	.	ENSG00000121381	ENST00000240691	.	.	.	4.46	-1.08	0.09936	.	620.986000	0.00166	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	3.6755	0.08290	0.4026:0.3816:0.1317:0.0841	.	.	.	.	X	153	.	ENSP00000240691:W153X	W	-	3	0	TAS2R9	10853483	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.680000	0.05197	-0.066000	0.12998	0.650000	0.86243	TGG		0.378	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			7	44	0	0	0	1	0	7	44				
CACNG7	59284	broad.mit.edu	37	19	54418628	54418628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54418628G>A	ENST00000391767.1	+	4	505	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CACNG7_ENST00000391766.1_Missense_Mutation_p.R98H|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.R98H			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	98					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R98H(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GAGACAGTGCGCACGGCCACC	0.627																																						ENST00000391767.1																			1	Substitution - Missense(1)	p.R98H(1)	large_intestine(1)	NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(292-294)cGc>cAc		calcium channel, voltage-dependent, gamma subunit 7							72.0	60.0	64.0					19																	54418628		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418628G>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.293G>A	19.37:g.54418628G>A	ENSP00000375647:p.Arg98His					CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.R98H|CACNG7_ENST00000222212.2_Missense_Mutation_p.R98H	p.R98H			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	505	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		98					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.293G>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729511	0.89390	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.89875	-2.58;-2.58;-2.58	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	P	0.61070	0.883	D	0.93851	0.7145	10	0.59425	D	0.04	-22.6554	14.1939	0.65656	0.0:0.0:1.0:0.0	.	98	P62955	CCG7_HUMAN	H	98	ENSP00000375647:R98H;ENSP00000222212:R98H;ENSP00000375646:R98H	ENSP00000222212:R98H	R	+	2	0	CACNG7	59110440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.081000	0.94049	2.451000	0.82905	0.655000	0.94253	CGC		0.627	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			9	25	0	0	0	1	0	9	25				
RWDD2B	10069	broad.mit.edu	37	21	30380277	30380277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380277C>T	ENST00000493196.1	-	4	630	c.530G>A	c.(529-531)gGa>gAa	p.G177E	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	177										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GACTGTGCTTCCTGTGGTGGG	0.443																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.(529-531)gGa>gAa		RWD domain containing 2B							128.0	116.0	120.0					21																	30380277		2203	4300	6503	SO:0001583	missense	10069							g.chr21:30380277C>T	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.530G>A	21.37:g.30380277C>T	ENSP00000418693:p.Gly177Glu					RWDD2B_ENST00000486719.1_5'UTR	p.G177E	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN			4	630	-			177						Missense_Mutation	SNP	ENST00000493196.1	37	c.530G>A	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.922225	0.00498	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.41	-6.11	0.02131	.	0.879913	0.10241	N	0.698416	T	0.12178	0.0296	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.36138	-0.9760	9	0.02654	T	1	-15.4742	3.5225	0.07747	0.0821:0.2487:0.348:0.3212	.	177;177	Q53FD2;P57060	.;RWD2B_HUMAN	E	177	.	ENSP00000418693:G177E	G	-	2	0	RWDD2B	29302148	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.102000	0.10956	-0.903000	0.03881	-0.182000	0.12963	GGA		0.443	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			5	88	0	0	0	1	0	5	88				
INTS1	26173	broad.mit.edu	37	7	1518100	1518100	+	Missense_Mutation	SNP	C	C	T	rs541004475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:1518100C>T	ENST00000404767.3	-	33	4617	c.4532G>A	c.(4531-4533)cGt>cAt	p.R1511H	INTS1_ENST00000389470.4_Missense_Mutation_p.R1710H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1511					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGTCCTGACGGAAGGCCAG	0.677																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(5128-5130)cGt>cAt		integrator complex subunit 1							29.0	34.0	33.0					7																	1518100		2131	4231	6362	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1518100C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4532G>A	7.37:g.1518100C>T	ENSP00000385722:p.Arg1511His					INTS1_ENST00000404767.3_Missense_Mutation_p.R1511H	p.R1710H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	34	5128	-		Ovarian(82;0.0253)	1511					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5129G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	3.673	-0.067045	0.07273	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.50548	0.79;0.74	4.51	-9.02	0.00741	.	0.637011	0.16761	N	0.200588	T	0.19846	0.0477	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14783	-1.0460	10	0.13108	T	0.6	.	11.4577	0.50191	0.0:0.5783:0.087:0.3347	.	1511	Q8N201	INT1_HUMAN	H	1511;1710	ENSP00000385722:R1511H;ENSP00000374121:R1710H	ENSP00000374121:R1710H	R	-	2	0	INTS1	1484626	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.045000	0.14013	-2.544000	0.00483	-2.869000	0.00099	CGT		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			26	12	0	0	0	1	0	26	12				
BCL11A	53335	broad.mit.edu	37	2	60689104	60689104	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60689104A>C	ENST00000335712.6	-	4	1170	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	BCL11A_ENST00000358510.4_Missense_Mutation_p.F281V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.F281V|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.F315V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	315	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCTAGAGAAATCCATGGCG	0.612			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(943-945)Ttc>Gtc		B-cell CLL/lymphoma 11A (zinc finger protein)							62.0	70.0	67.0					2																	60689104		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689104A>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.943T>G	2.37:g.60689104A>C	ENSP00000338774:p.Phe315Val					BCL11A_ENST00000356842.4_Missense_Mutation_p.F315V|BCL11A_ENST00000358510.4_Missense_Mutation_p.F281V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.F281V	p.F315V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1170	-			315			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.943T>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280839	0.40394	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.08984	3.03;3.32;3.33;3.26	5.84	5.84	0.93424	.	0.110530	0.64402	D	0.000009	T	0.29817	0.0745	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;D;D;D	0.80764	0.994;0.943;0.99;0.99	T	0.00989	-1.1489	10	0.48119	T	0.1	-2.3455	16.2167	0.82231	1.0:0.0:0.0:0.0	.	281;281;315;315	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	V	315;351;281;315;281	ENSP00000349300:F315V;ENSP00000438303:F281V;ENSP00000338774:F315V;ENSP00000351307:F281V	ENSP00000338774:F315V	F	-	1	0	BCL11A	60542608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	TTC		0.612	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		11	104	0	0	0	1	0	11	104				
SHANK2	22941	broad.mit.edu	37	11	70331536	70331536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70331536G>A	ENST00000423696.2	-	15	3761	c.3725C>T	c.(3724-3726)gCa>gTa	p.A1242V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1025V|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1622V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1026V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1242					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AATAACGTTTGCCTTTGGGCC	0.527																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4864-4866)gCa>gTa		SH3 and multiple ankyrin repeat domains 2							95.0	95.0	95.0					11																	70331536		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331536G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3725C>T	11.37:g.70331536G>A	ENSP00000394536:p.Ala1242Val					SHANK2_ENST00000423696.2_Missense_Mutation_p.A1242V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1026V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A1025V	p.A1622V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4864	-			1242					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4865C>T		.	.	.	.	.	.	.	.	.	.	G	18.22	3.576499	0.65878	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.46819	2.15;2.15;2.87;0.86;2.28;2.28	5.66	5.66	0.87406	.	0.162749	0.56097	D	0.000035	T	0.70168	0.3193	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.972;0.999;0.997	P;D;D	0.85130	0.724;0.997;0.945	T	0.71182	-0.4668	10	0.62326	D	0.03	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	1242;1621;1026	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	1026;1025;900;1622;1242;1260;1245	ENSP00000399423:A1026V;ENSP00000386491:A1025V;ENSP00000402944:A900V;ENSP00000345193:A1622V;ENSP00000394536:A1242V;ENSP00000294018:A1245V	ENSP00000294018:A1245V	A	-	2	0	SHANK2	70009184	1.000000	0.71417	0.977000	0.42913	0.974000	0.67602	5.418000	0.66429	2.665000	0.90641	0.655000	0.94253	GCA		0.527	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		30	49	0	0	0	1	0	30	49				
HCN3	57657	broad.mit.edu	37	1	155254415	155254415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155254415C>A	ENST00000368358.3	+	4	964	c.956C>A	c.(955-957)cCt>cAt	p.P319H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	319					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCAGGCACCTGTAGGCATG	0.597																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(955-957)cCt>cAt		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							98.0	73.0	82.0					1																	155254415		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155254415C>A	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.956C>A	1.37:g.155254415C>A	ENSP00000357342:p.Pro319His					HCN3_ENST00000496230.1_3'UTR	p.P319H	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	964	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		319					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.956C>A	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681272	0.88542	.	.	ENSG00000143630	ENST00000368358	D	0.98862	-5.19	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.50627	D	0.000102	D	0.99369	0.9778	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98866	1.0764	10	0.87932	D	0	.	16.5568	0.84487	0.0:1.0:0.0:0.0	.	319	Q9P1Z3	HCN3_HUMAN	H	319	ENSP00000357342:P319H	ENSP00000357342:P319H	P	+	2	0	HCN3	153521039	1.000000	0.71417	0.879000	0.34478	0.938000	0.57974	7.773000	0.85462	2.573000	0.86826	0.552000	0.68991	CCT		0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		20	34	1	0	1.22574e-08	1	1.47244e-08	20	34				
GSTA5	221357	broad.mit.edu	37	6	52696717	52696717	+	Missense_Mutation	SNP	G	G	A	rs200881635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52696717G>A	ENST00000370989.2	-	6	627	c.598C>T	c.(598-600)Cct>Tct	p.P200S	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.P200S			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	200	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGGCTGCCAGGCTGCAGAAAC	0.498																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(598-600)Cct>Tct		glutathione S-transferase alpha 5	Glutathione(DB00143)						117.0	115.0	116.0					6																	52696717		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52696717G>A	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.598C>T	6.37:g.52696717G>A	ENSP00000360028:p.Pro200Ser					GSTA5_ENST00000284562.2_Missense_Mutation_p.P200S|GSTA5_ENST00000475052.1_5'UTR	p.P200S			Q7RTV2	GSTA5_HUMAN			7	756	-	Lung NSC(77;0.0912)		200			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.598C>T	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316590	0.23908	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01347	4.99;4.99	2.49	2.49	0.30216	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.00967	0.0032	M	0.67517	2.055	0.46499	D	0.999071	B	0.24368	0.102	B	0.23018	0.043	T	0.46775	-0.9167	10	0.42905	T	0.14	.	11.1383	0.48388	0.0:0.0:1.0:0.0	.	200	Q7RTV2	GSTA5_HUMAN	S	200	ENSP00000360028:P200S;ENSP00000284562:P200S	ENSP00000284562:P200S	P	-	1	0	GSTA5	52804676	1.000000	0.71417	0.998000	0.56505	0.262000	0.26303	7.061000	0.76699	1.400000	0.46741	0.306000	0.20318	CCT		0.498	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		39	55	0	0	0	1	0	39	55				
VLDLR	7436	broad.mit.edu	37	9	2643437	2643437	+	Silent	SNP	C	C	T	rs200656858		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2643437C>T	ENST00000382100.3	+	5	1082	c.726C>T	c.(724-726)agC>agT	p.S242S	VLDLR_ENST00000382099.2_Silent_p.S242S|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	242	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTCCAGCCAGCGAAATCCAGT	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22182	0.0		0.0	False		,,,				2504	0.0					ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(724-726)agC>agT		very low density lipoprotein receptor							54.0	48.0	50.0					9																	2643437		2203	4300	6503	SO:0001819	synonymous_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643437C>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.726C>T	9.37:g.2643437C>T						VLDLR_ENST00000382099.2_Silent_p.S242S	p.S242S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	5	1082	+			242			LDL-receptor class A 6.		B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	c.726C>T	CCDS6446.1																																																																																				0.562	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		13	16	0	0	0	1	0	13	16				
TUB	7275	broad.mit.edu	37	11	8117140	8117140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117140G>A	ENST00000299506.2	+	5	642	c.493G>A	c.(493-495)Gca>Aca	p.A165T	TUB_ENST00000534099.1_Missense_Mutation_p.A171T|TUB_ENST00000305253.4_Missense_Mutation_p.A220T	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	165					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCCCAGGACGCAGGGGAGAC	0.667																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(658-660)Gca>Aca		tubby bipartite transcription factor							24.0	26.0	25.0					11																	8117140		2198	4295	6493	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8117140G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.493G>A	11.37:g.8117140G>A	ENSP00000299506:p.Ala165Thr					TUB_ENST00000534099.1_Missense_Mutation_p.A171T|TUB_ENST00000299506.2_Missense_Mutation_p.A165T	p.A220T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	6	899	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	165					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.658G>A	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146555	0.21288	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.85339	-1.95;-1.97;-1.95	5.38	0.84	0.18912	Tubby, N-terminal (1);	0.611291	0.17337	N	0.177878	T	0.61887	0.2383	N	0.16602	0.42	0.09310	N	1	B;P;B	0.40282	0.12;0.711;0.19	B;B;B	0.23852	0.005;0.049;0.012	T	0.55471	-0.8136	10	0.17369	T	0.5	-0.798	5.674	0.17737	0.1469:0.1202:0.6228:0.11	.	171;165;220	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	T	171;220;165	ENSP00000434400:A171T;ENSP00000305426:A220T;ENSP00000299506:A165T	ENSP00000299506:A165T	A	+	1	0	TUB	8073716	0.937000	0.31787	0.714000	0.30535	0.996000	0.88848	1.669000	0.37492	0.231000	0.21079	0.561000	0.74099	GCA		0.667	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		7	18	0	0	0	1	0	7	18				
HHEX	3087	broad.mit.edu	37	10	94452481	94452481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94452481G>A	ENST00000282728.5	+	3	2362	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	HHEX_ENST00000472590.2_Missense_Mutation_p.R16Q|HHEX_ENST00000492654.2_Missense_Mutation_p.R16Q	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	188					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TTTCAGAATCGACGCGCTAAA	0.478																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(562-564)cGa>cAa		hematopoietically expressed homeobox							122.0	119.0	120.0					10																	94452481		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452481G>A	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.563G>A	10.37:g.94452481G>A	ENSP00000282728:p.Arg188Gln					HHEX_ENST00000472590.2_Missense_Mutation_p.R16Q|HHEX_ENST00000492654.2_Missense_Mutation_p.R16Q	p.R188Q	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			3	2362	+			188					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.563G>A	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589465	0.96590	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.97710	-4.5;-4.5;-4.5	4.49	4.49	0.54785	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98792	0.9593	M	0.87971	2.92	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.99797	1.1034	10	0.87932	D	0	-2.3837	17.3563	0.87336	0.0:0.0:1.0:0.0	.	188	Q03014	HHEX_HUMAN	Q	188;16;16	ENSP00000282728:R188Q;ENSP00000450017:R16Q;ENSP00000447953:R16Q	ENSP00000282728:R188Q	R	+	2	0	HHEX	94442461	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.463000	0.97652	2.343000	0.79666	0.484000	0.47621	CGA		0.478	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			33	51	0	0	0	1	0	33	51				
CCDC160	347475	broad.mit.edu	37	X	133379664	133379664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133379664C>T	ENST00000517294.1	+	3	1217	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CCDC160_ENST00000370809.4_Silent_p.L278L			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	278										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCGGAGAGCTCAGTGTCATCA	0.378																																						ENST00000517294.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						c.(832-834)ctC>ctT		coiled-coil domain containing 160							42.0	38.0	39.0					X																	133379664		1837	4072	5909	SO:0001819	synonymous_variant	347475							g.chrX:133379664C>T	BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.834C>T	X.37:g.133379664C>T						CCDC160_ENST00000370809.4_Silent_p.L278L	p.L278L			A6NGH7	CC160_HUMAN			3	1217	+			278						Silent	SNP	ENST00000517294.1	37	c.834C>T	CCDS48171.1																																																																																				0.378	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		5	21	0	0	0	1	0	5	21				
MROH1	727957	broad.mit.edu	37	8	145245827	145245827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145245827C>T	ENST00000528919.1	+	7	824	c.703C>T	c.(703-705)Cga>Tga	p.R235*	MROH1_ENST00000423230.2_Nonsense_Mutation_p.R235*|MROH1_ENST00000534366.1_Nonsense_Mutation_p.R235*|MROH1_ENST00000326134.5_Nonsense_Mutation_p.R235*|MROH1_ENST00000398656.4_Nonsense_Mutation_p.R235*	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	235																	GCTGCAGAGTCGAGAAGCCAA	0.607																																						ENST00000528919.1																			0											c.(703-705)Cga>Tga		maestro heat-like repeat family member 1							42.0	46.0	45.0					8																	145245827		2069	4211	6280	SO:0001587	stop_gained	727957							g.chr8:145245827C>T		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.703C>T	8.37:g.145245827C>T	ENSP00000435565:p.Arg235*					MROH1_ENST00000534366.1_Nonsense_Mutation_p.R235*|MROH1_ENST00000326134.5_Nonsense_Mutation_p.R235*|MROH1_ENST00000423230.2_Nonsense_Mutation_p.R235*|MROH1_ENST00000398656.4_Nonsense_Mutation_p.R235*	p.R235*	NM_032450.2	NP_115826.2					7	824	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Nonsense_Mutation	SNP	ENST00000528919.1	37	c.703C>T	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	C	37	6.343022	0.97489	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	.	.	.	5.95	4.15	0.48705	.	0.088199	0.43919	U	0.000519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4889	0.50369	0.1415:0.7226:0.1359:0.0	.	.	.	.	X	235;235;235;235;235;167	.	ENSP00000321737:R235X	R	+	1	2	HEATR7A	145317815	1.000000	0.71417	0.401000	0.26359	0.908000	0.53690	2.316000	0.43761	0.843000	0.35070	-0.152000	0.13540	CGA		0.607	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		16	16	0	0	0	1	0	16	16				
SYNE1	23345	broad.mit.edu	37	6	152771814	152771814	+	Missense_Mutation	SNP	C	C	T	rs377684975		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771814C>T	ENST00000367255.5	-	27	3942	c.3341G>A	c.(3340-3342)aGc>aAc	p.S1114N	SYNE1_ENST00000367253.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1104N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1180N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1114N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1114					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGTAGGTGCTGTCAATGGC	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3340-3342)aGc>aAc		spectrin repeat containing, nuclear envelope 1							183.0	176.0	178.0					6																	152771814		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152771814C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3341G>A	6.37:g.152771814C>T	ENSP00000356224:p.Ser1114Asn	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1180N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1114N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1104N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1121N	p.S1114N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	27	3942	-		Ovarian(120;0.0955)	1114					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3341G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445566	0.25987	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.78	1.86	0.25419	.	0.318444	0.31210	N	0.008046	T	0.07143	0.0181	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B;B	0.09022	0.0;0.0;0.002;0.001;0.0;0.001	B;B;B;B;B;B	0.12837	0.002;0.002;0.003;0.005;0.002;0.008	T	0.15665	-1.0429	10	0.17369	T	0.5	.	6.632	0.22861	0.0:0.5379:0.2601:0.202	.	1097;1114;1104;1114;1114;1121	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	N	1114;1121;1114;1121;1180;1114;1104;1114	ENSP00000356224:S1114N;ENSP00000396024:S1121N;ENSP00000265368:S1114N;ENSP00000390975:S1121N;ENSP00000341887:S1180N;ENSP00000356222:S1114N;ENSP00000356217:S1104N;ENSP00000414510:S1114N	ENSP00000265368:S1114N	S	-	2	0	SYNE1	152813507	0.582000	0.26749	0.425000	0.26659	0.922000	0.55478	0.791000	0.26915	0.407000	0.25591	0.655000	0.94253	AGC		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		104	138	0	0	0	1	0	104	138				
BICD1	636	broad.mit.edu	37	12	32369275	32369275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32369275C>T	ENST00000281474.5	+	2	411	c.308C>T	c.(307-309)gCt>gTt	p.A103V	BICD1_ENST00000548411.1_Missense_Mutation_p.A103V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	103					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCGAAGGAGGCTTACTATCTG	0.547																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(307-309)gCt>gTt		bicaudal D homolog 1 (Drosophila)							116.0	108.0	111.0					12																	32369275		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369275C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.308C>T	12.37:g.32369275C>T	ENSP00000281474:p.Ala103Val					BICD1_ENST00000281474.5_Missense_Mutation_p.A103V	p.A103V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	489	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		103					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.308C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901226	0.92035	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.48522	0.81;0.81	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.78049	2.395	0.80722	D	1	P;D	0.54964	0.839;0.969	B;P	0.56163	0.423;0.793	T	0.65134	-0.6242	10	0.46703	T	0.11	.	14.3679	0.66817	0.1478:0.8522:0.0:0.0	.	103;103	F8W113;Q96G01	.;BICD1_HUMAN	V	103	ENSP00000446793:A103V;ENSP00000281474:A103V	ENSP00000281474:A103V	A	+	2	0	BICD1	32260542	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.517000	0.60503	2.603000	0.88011	0.655000	0.94253	GCT		0.547	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		15	32	0	0	0	1	0	15	32				
SLC8A2	6543	broad.mit.edu	37	19	47969326	47969326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969326G>A	ENST00000236877.6	-	2	730	c.335C>T	c.(334-336)gCc>gTc	p.A112V	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	112					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCACCGTTGGCCTTGGTGAT	0.577																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(334-336)gCc>gTc		solute carrier family 8 (sodium/calcium exchanger), member 2							137.0	85.0	103.0					19																	47969326		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969326G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.335C>T	19.37:g.47969326G>A	ENSP00000236877:p.Ala112Val					SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	p.A112V	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	730	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	112					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.335C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298009	0.81025	.	.	ENSG00000118160	ENST00000236877	T	0.32515	1.45	4.25	3.15	0.36227	Sodium/calcium exchanger membrane region (1);	0.203981	0.41396	D	0.000887	T	0.22666	0.0547	N	0.08118	0	0.80722	D	1	P	0.51537	0.946	P	0.48952	0.596	T	0.13442	-1.0509	10	0.48119	T	0.1	.	14.1259	0.65219	0.0:0.1656:0.8344:0.0	.	112	Q9UPR5	NAC2_HUMAN	V	112	ENSP00000236877:A112V	ENSP00000236877:A112V	A	-	2	0	SLC8A2	52661138	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.417000	0.66423	2.210000	0.71456	0.462000	0.41574	GCC		0.577	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			23	24	0	0	0	1	0	23	24				
MYF5	4617	broad.mit.edu	37	12	81111033	81111033	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81111033C>T	ENST00000228644.3	+	1	343	c.191C>T	c.(190-192)gCt>gTt	p.A64V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	64					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCACCAGGCTGGTCACTGC	0.647																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(190-192)gCt>gTt		myogenic factor 5							37.0	33.0	35.0					12																	81111033		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111033C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.191C>T	12.37:g.81111033C>T	ENSP00000228644:p.Ala64Val						p.A64V	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	343	+			64					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.191C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994488	0.93167	.	.	ENSG00000111049	ENST00000228644	T	0.78707	-1.2	6.17	6.17	0.99709	Myogenic basic muscle-specific protein (2);	0.048459	0.85682	D	0.000000	D	0.88062	0.6336	M	0.78456	2.415	0.51482	D	0.99992	D	0.76494	0.999	D	0.74674	0.984	D	0.87355	0.2340	10	0.51188	T	0.08	-2.9612	17.0531	0.86525	0.0:0.8734:0.1266:0.0	.	64	P13349	MYF5_HUMAN	V	64	ENSP00000228644:A64V	ENSP00000228644:A64V	A	+	2	0	MYF5	79635164	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	5.727000	0.68523	2.941000	0.99782	0.655000	0.94253	GCT		0.647	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		9	14	0	0	0	1	0	9	14				
SORCS1	114815	broad.mit.edu	37	10	108337255	108337255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108337255G>A	ENST00000263054.6	-	26	3437	c.3430C>T	c.(3430-3432)Cga>Tga	p.R1144*	SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1144					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTTGCAATCGGAGAGATGAG	0.507																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(3430-3432)Cga>Tga		sortilin-related VPS10 domain containing receptor 1							102.0	100.0	101.0					10																	108337255		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108337255G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3430C>T	10.37:g.108337255G>A	ENSP00000263054:p.Arg1144*					SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	p.R1144*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	26	3437	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1144					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.3430C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	38	7.282210	0.98186	.	.	ENSG00000108018	ENST00000263054	.	.	.	5.52	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.819	0.40871	0.1482:0.0:0.8518:0.0	.	.	.	.	X	1144	.	.	R	-	1	2	SORCS1	108327245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.824000	0.55723	2.759000	0.94783	0.555000	0.69702	CGA		0.507	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		27	51	0	0	0	1	0	27	51				
SPTLC1	10558	broad.mit.edu	37	9	94874736	94874736	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94874736C>T	ENST00000262554.2	-	2	171		c.e2+1		SPTLC1_ENST00000337841.4_Splice_Site|SPTLC1_ENST00000482632.1_Splice_Site	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TAATTTCGTACCTTGACTGTA	0.348																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.e2+1		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						113.0	112.0	113.0					9																	94874736		2203	4300	6503	SO:0001630	splice_region_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94874736C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.165+1G>A	9.37:g.94874736C>T						SPTLC1_ENST00000482632.1_Splice_Site|SPTLC1_ENST00000337841.4_Splice_Site		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			2	171	-								A8K681|Q5VWB4|Q96IX6	Splice_Site	SNP	ENST00000262554.2	37		CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220892	0.58560	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5824	0.84717	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTLC1	93914557	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	6.051000	0.71072	2.517000	0.84864	0.650000	0.86243	.		0.348	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	Intron	15	39	0	0	0	1	0	15	39				
SOBP	55084	broad.mit.edu	37	6	107827511	107827511	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107827511G>T	ENST00000317357.5	+	3	960	c.301G>T	c.(301-303)Ggc>Tgc	p.G101C		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TATAAGCACAGGCTATTCAGG	0.408																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(301-303)Ggc>Tgc		sine oculis binding protein homolog (Drosophila)							175.0	168.0	171.0					6																	107827511		1895	4131	6026	SO:0001583	missense	55084						metal ion binding	g.chr6:107827511G>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.301G>T	6.37:g.107827511G>T	ENSP00000318900:p.Gly101Cys						p.G101C	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	3	960	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	101						Missense_Mutation	SNP	ENST00000317357.5	37	c.301G>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880993	0.72294	.	.	ENSG00000112320	ENST00000317357	T	0.12039	2.72	5.02	4.13	0.48395	.	0.280571	0.35262	N	0.003322	T	0.06005	0.0156	N	0.08118	0	0.36732	D	0.881743	D	0.60575	0.988	P	0.56514	0.8	T	0.08743	-1.0707	10	0.72032	D	0.01	-8.7222	4.9746	0.14135	0.2989:0.0:0.7011:0.0	.	101	A7XYQ1	SOBP_HUMAN	C	101	ENSP00000318900:G101C	ENSP00000318900:G101C	G	+	1	0	SOBP	107934204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.681000	0.46926	2.497000	0.84241	0.655000	0.94253	GGC		0.408	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		17	164	1	0	3.52763e-06	1	4.04633e-06	17	164				
ACKR2	1238	broad.mit.edu	37	3	42906025	42906025	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42906025G>A	ENST00000422265.1	+	3	206	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.A11T|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.A11T|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	11					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.A11T(1)									GCAGCCACTCGCCACTGAGGA	0.542																																						ENST00000422265.1																			1	Substitution - Missense(1)	p.A11T(1)	urinary_tract(1)								c.(31-33)Gcc>Acc		atypical chemokine receptor 2							61.0	60.0	61.0					3																	42906025		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906025G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.31G>A	3.37:g.42906025G>A	ENSP00000416996:p.Ala11Thr					ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.A11T|ACKR2_ENST00000273145.2_Missense_Mutation_p.A11T|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.A11T	NM_001296.4	NP_001287.2					3	206	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.31G>A	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	A	2.873	-0.233443	0.05983	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.72167	-0.63;-0.63;-0.63	4.78	-0.619	0.11572	.	.	.	.	.	T	0.34687	0.0906	N	0.02539	-0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31558	-0.9939	9	0.02654	T	1	.	5.2991	0.15768	0.4955:0.1525:0.352:0.0	.	11;11	O00590;Q7Z7I1	CCBP2_HUMAN;.	T	11	ENSP00000396150:A11T;ENSP00000416996:A11T;ENSP00000273145:A11T	ENSP00000273145:A11T	A	+	1	0	CCBP2	42881029	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.330000	0.07925	-0.236000	0.09753	-0.360000	0.07572	GCC		0.542	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		17	26	0	0	0	1	0	17	26				
STIL	6491	broad.mit.edu	37	1	47745934	47745934	+	Silent	SNP	C	C	T	rs200437829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47745934C>T	ENST00000360380.3	-	13	2559	c.2196G>A	c.(2194-2196)caG>caA	p.Q732Q	STIL_ENST00000243182.6_Silent_p.Q732Q|STIL_ENST00000337817.5_Silent_p.Q732Q|STIL_ENST00000396221.2_Silent_p.Q732Q|STIL_ENST00000371877.3_Silent_p.Q732Q	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	732	PIN1-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTAGTCTTAGCTGTCTGTCTT	0.428																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(2194-2196)caG>caA		SCL/TAL1 interrupting locus							154.0	136.0	142.0					1																	47745934		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47745934C>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2196G>A	1.37:g.47745934C>T						STIL_ENST00000371877.3_Silent_p.Q732Q|STIL_ENST00000243182.6_Silent_p.Q732Q|STIL_ENST00000337817.5_Silent_p.Q732Q|STIL_ENST00000396221.2_Silent_p.Q732Q	p.Q732Q			Q15468	STIL_HUMAN			13	2559	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	732			PIN1-binding (By similarity).		Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.2196G>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	6.647	0.487821	0.12641	.	.	ENSG00000123473	ENST00000436811	.	.	.	5.54	2.3	0.28687	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52200	-0.8607	4	.	.	.	-6.6961	8.8273	0.35063	0.0:0.6431:0.0:0.3569	.	.	.	.	T	72	.	.	A	-	1	0	STIL	47518521	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.852000	0.27764	0.721000	0.32231	-0.145000	0.13849	GCT		0.428	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		4	82	0	0	0	1	0	4	82				
DTX3L	151636	broad.mit.edu	37	3	122289445	122289445	+	Silent	SNP	C	C	T	rs376222511		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122289445C>T	ENST00000296161.4	+	4	2268	c.2079C>T	c.(2077-2079)cgC>cgT	p.R693R	DTX3L_ENST00000383661.3_Silent_p.R181R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	693					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGTACTCTCGCGTATTAGGAG	0.428																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(2077-2079)cgC>cgT		deltex 3-like (Drosophila)		C		1,4405	2.1+/-5.4	0,1,2202	122.0	122.0	122.0		2079	-4.0	0.0	3		122	0,8600		0,0,4300	no	coding-synonymous	DTX3L	NM_138287.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		693/741	122289445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122289445C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.2079C>T	3.37:g.122289445C>T						DTX3L_ENST00000383661.3_Silent_p.R181R	p.R693R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	4	2268	+			693					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.2079C>T	CCDS3015.1																																																																																				0.428	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		6	67	0	0	0	1	0	6	67				
PCOLCE	5118	broad.mit.edu	37	7	100205657	100205657	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100205657G>T	ENST00000223061.5	+	9	1561	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	427	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCAGGACCAGATCCTCACCA	0.617																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1279-1281)caG>caT		procollagen C-endopeptidase enhancer							61.0	62.0	62.0					7																	100205657		2203	4300	6503	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205657G>T	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1281G>T	7.37:g.100205657G>T	ENSP00000223061:p.Gln427His						p.Q427H	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			9	1561	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		427			NTR.		B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.1281G>T	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732941	0.69189	.	.	ENSG00000106333	ENST00000223061	T	0.22743	1.94	5.04	5.04	0.67666	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.130731	0.51477	D	0.000088	T	0.27278	0.0669	N	0.19112	0.55	0.38770	D	0.954525	D	0.58268	0.982	D	0.66084	0.941	T	0.09773	-1.0659	10	0.72032	D	0.01	-15.0225	9.4957	0.38986	0.0966:0.0:0.9034:0.0	.	427	Q15113	PCOC1_HUMAN	H	427	ENSP00000223061:Q427H	ENSP00000223061:Q427H	Q	+	3	2	PCOLCE	100043593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.234000	0.32660	2.333000	0.79357	0.462000	0.41574	CAG		0.617	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		25	63	1	0	2.21704e-12	1	2.7869e-12	25	63				
C2CD3	26005	broad.mit.edu	37	11	73796918	73796918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73796918G>A	ENST00000334126.7	-	21	3881	c.3655C>T	c.(3655-3657)Cgg>Tgg	p.R1219W	C2CD3_ENST00000313663.7_Missense_Mutation_p.R1219W			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1219	C2 1.		R -> Q (in dbSNP:rs826058). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.1}.		brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGGGTTCCCGTTCAGCCAAA	0.493																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(3655-3657)Cgg>Tgg		C2 calcium-dependent domain containing 3							49.0	46.0	47.0					11																	73796918		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73796918G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3655C>T	11.37:g.73796918G>A	ENSP00000334379:p.Arg1219Trp					C2CD3_ENST00000313663.7_Missense_Mutation_p.R1219W	p.R1219W			Q4AC94	C2CD3_HUMAN			21	3881	-	Breast(11;4.16e-06)		1219		R -> Q (in dbSNP:rs826058).	C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3655C>T		.	.	.	.	.	.	.	.	.	.	G	12.14	1.847770	0.32606	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14516	2.92;2.92;2.5	5.8	3.76	0.43208	.	0.243070	0.42053	D	0.000770	T	0.04272	0.0118	N	0.08118	0	0.18873	N	0.999988	P	0.45078	0.85	B	0.20955	0.032	T	0.39502	-0.9611	9	.	.	.	-2.6174	9.9244	0.41483	0.0:0.1109:0.5461:0.343	.	1219	Q4AC94-1	.	W	1219;1219;1219;27	ENSP00000334379:R1219W;ENSP00000323339:R1219W;ENSP00000388750:R27W	.	R	-	1	2	C2CD3	73474566	0.999000	0.42202	1.000000	0.80357	0.243000	0.25628	1.784000	0.38674	1.394000	0.46624	0.655000	0.94253	CGG		0.493	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		9	15	0	0	0	1	0	9	15				
CCR6	1235	broad.mit.edu	37	6	167549745	167549745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549745C>T	ENST00000341935.5	+	3	579	c.27C>T	c.(25-27)agC>agT	p.S9S	CCR6_ENST00000349984.4_Silent_p.S9S|CCR6_ENST00000400926.2_Silent_p.S9S|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	9					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGAATTTCAGCGATGTTTTCG	0.408																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(25-27)agC>agT		chemokine (C-C motif) receptor 6							149.0	149.0	149.0					6																	167549745		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167549745C>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.27C>T	6.37:g.167549745C>T						CCR6_ENST00000400926.2_Silent_p.S9S|CCR6_ENST00000349984.4_Silent_p.S9S	p.S9S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	579	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	9					E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.27C>T	CCDS5298.1																																																																																				0.408	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			63	103	0	0	0	1	0	63	103				
MCM4	4173	broad.mit.edu	37	8	48883349	48883349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48883349C>A	ENST00000262105.2	+	11	1922	c.1713C>A	c.(1711-1713)tgC>tgA	p.C571*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.C571*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	571	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGGCATCTGCTGTATCGATG	0.502																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(1711-1713)tgC>tgA		minichromosome maintenance complex component 4							97.0	78.0	84.0					8																	48883349		2203	4300	6503	SO:0001587	stop_gained	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883349C>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1713C>A	8.37:g.48883349C>A	ENSP00000262105:p.Cys571*					MCM4_ENST00000523944.1_Nonsense_Mutation_p.C571*	p.C571*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			11	1922	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	571			MCM.		Q8NEH1|Q99658	Nonsense_Mutation	SNP	ENST00000262105.2	37	c.1713C>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	37	6.119047	0.97300	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	.	.	.	5.73	3.92	0.45320	.	0.079601	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.2626	13.0223	0.58796	0.0:0.8675:0.0:0.1325	.	.	.	.	X	571;571;558;531	.	ENSP00000262105:C571X	C	+	3	2	MCM4	49045902	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.035000	0.57297	0.867000	0.35654	-0.140000	0.14226	TGC		0.502	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		15	24	1	0	0.000422831	1	0.000460248	15	24				
WDR70	55100	broad.mit.edu	37	5	37396660	37396660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37396660G>T	ENST00000265107.4	+	5	636	c.480G>T	c.(478-480)gaG>gaT	p.E160D	WDR70_ENST00000504564.1_Missense_Mutation_p.E160D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	160	Glu-rich.						enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			aagaggaagaggaggaagagg	0.373																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(478-480)gaG>gaT		WD repeat domain 70							28.0	27.0	27.0					5																	37396660		2202	4300	6502	SO:0001583	missense	55100							g.chr5:37396660G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.480G>T	5.37:g.37396660G>T	ENSP00000265107:p.Glu160Asp					WDR70_ENST00000504564.1_Missense_Mutation_p.E160D	p.E160D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	636	+	all_lung(31;0.000285)		160			Glu-rich.		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.480G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	1.335	-0.595767	0.03771	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.85861	5.0;-2.04	4.94	-1.16	0.09678	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.169960	0.06336	N	0.707170	T	0.65344	0.2682	N	0.14661	0.345	0.24437	N	0.994548	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.55289	-0.8164	10	0.02654	T	1	-15.283	2.8052	0.05425	0.4506:0.0:0.2341:0.3153	.	160;160	D6RIW8;Q9NW82	.;WDR70_HUMAN	D	160	ENSP00000265107:E160D;ENSP00000425841:E160D	ENSP00000265107:E160D	E	+	3	2	WDR70	37432417	0.113000	0.22115	0.654000	0.29608	0.649000	0.38597	0.028000	0.13644	-0.024000	0.13941	0.460000	0.39030	GAG		0.373	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		4	16	1	0	0.150653	1	0.152692	4	16				
CHEK2P2	646096	broad.mit.edu	37	15	20489431	20489431	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20489431G>T	ENST00000555186.1	+	0	419					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TGTCACTGAAGGACCAGATCA	0.418																																						ENST00000555186.1																			0																																																			0							g.chr15:20489431G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20489431G>T								NR_038836.1						0	419	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.418	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		10	50	1	0	0.00829132	1	0.00869385	10	50				
LRRC56	115399	broad.mit.edu	37	11	554168	554168	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:554168C>T	ENST00000270115.7	+	14	2021	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	507			R -> G (in dbSNP:rs10902170). {ECO:0000269|PubMed:17974005}.							kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCTCACGCCTGAGCCCTC	0.697																																						ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(1519-1521)cgC>cgT		leucine rich repeat containing 56							41.0	40.0	41.0					11																	554168		2197	4298	6495	SO:0001819	synonymous_variant	115399							g.chr11:554168C>T		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1521C>T	11.37:g.554168C>T							p.R507R	NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	2021	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	507		R -> G (in dbSNP:rs10902170).			Q8N3Q4	Silent	SNP	ENST00000270115.7	37	c.1521C>T	CCDS7700.1																																																																																				0.697	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		5	14	0	0	0	1	0	5	14				
PCDHGA3	56112	broad.mit.edu	37	5	140725817	140725817	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725817C>T	ENST00000253812.6	+	1	2217	c.2217C>T	c.(2215-2217)caC>caT	p.H739H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	739					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCTCGCACTTTGTGGGCG	0.667																																						ENST00000253812.6																			0				breast(1)	1						c.(2215-2217)caC>caT									50.0	60.0	57.0					5																	140725817		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140725817C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2217C>T	5.37:g.140725817C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.H739H	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2217	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.2217C>T	CCDS47290.1																																																																																				0.667	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		26	36	0	0	0	1	0	26	36				
MYL12B	103910	broad.mit.edu	37	18	3277898	3277898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3277898G>A	ENST00000581193.1	+	4	865	c.482G>A	c.(481-483)cGc>cAc	p.R161H	MYL12B_ENST00000237500.5_Missense_Mutation_p.R161H|MYL12B_ENST00000584539.1_Missense_Mutation_p.R161H|MYL12B_ENST00000400175.5_Missense_Mutation_p.R161H	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	161	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						GAGTTCACACGCATCCTGAAA	0.408																																						ENST00000581193.1																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(481-483)cGc>cAc		myosin, light chain 12B, regulatory							68.0	59.0	62.0					18																	3277898		2203	4300	6503	SO:0001583	missense	103910				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	g.chr18:3277898G>A	AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"""Myosins / Light chain"", ""EF-hand domain containing"""	29827	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2"""	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.482G>A	18.37:g.3277898G>A	ENSP00000463559:p.Arg161His					MYL12B_ENST00000584539.1_Missense_Mutation_p.R161H|MYL12B_ENST00000400175.5_Missense_Mutation_p.R161H|MYL12B_ENST00000237500.5_Missense_Mutation_p.R161H	p.R161H	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN			4	865	+			161			EF-hand 3.		D3DUH6|Q13182|Q7Z5Z4	Missense_Mutation	SNP	ENST00000581193.1	37	c.482G>A	CCDS11831.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685148	0.29872	.	.	ENSG00000118680	ENST00000237500;ENST00000400177;ENST00000400175;ENST00000400174	T;T	0.79141	-1.24;-1.24	5.51	5.51	0.81932	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.69358	2.11	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.71038	-0.4708	10	0.18276	T	0.48	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	161	O14950	ML12B_HUMAN	H	161	ENSP00000237500:R161H;ENSP00000383037:R161H	ENSP00000237500:R161H	R	+	2	0	MYL12B	3267898	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	9.347000	0.97059	2.736000	0.93811	0.655000	0.94253	CGC		0.408	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		10	22	0	0	0	1	0	10	22				
HOXC13	3229	broad.mit.edu	37	12	54338866	54338866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54338866G>T	ENST00000243056.3	+	2	975	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	273					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						TGCAGCTGAAGGAGCTAGAGA	0.607			T	NUP98	AML																																	ENST00000243056.3				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)|large_intestine(1)|skin(1)	3						c.(817-819)aaG>aaT		homeobox C13							75.0	82.0	80.0					12																	54338866		2203	4300	6503	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54338866G>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.819G>T	12.37:g.54338866G>T	ENSP00000243056:p.Lys273Asn						p.K273N	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN			2	975	+			273					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.819G>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642166	0.67244	.	.	ENSG00000123364	ENST00000243056	D	0.96232	-3.95	4.95	4.06	0.47325	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	N	0.02697	-0.525	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92560	0.6057	10	0.87932	D	0	.	6.7923	0.23707	0.2632:0.0:0.7368:0.0	.	273	P31276	HXC13_HUMAN	N	273	ENSP00000243056:K273N	ENSP00000243056:K273N	K	+	3	2	HOXC13	52625133	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.915000	0.28638	1.476000	0.48215	-0.136000	0.14681	AAG		0.607	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			9	96	1	0	4.68919e-08	1	5.58064e-08	9	96				
ZNF496	84838	broad.mit.edu	37	1	247492713	247492713	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492713G>A	ENST00000294753.4	-	3	632	c.168C>T	c.(166-168)ccC>ccT	p.P56P	ZNF496_ENST00000366498.2_Silent_p.P56P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	56	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGGCCTCCCGGGGGCCCGCCG	0.706																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(166-168)ccC>ccT		zinc finger protein 496							16.0	22.0	20.0					1																	247492713		2189	4286	6475	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492713G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.168C>T	1.37:g.247492713G>A						ZNF496_ENST00000366498.2_Silent_p.P56P	p.P56P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	632	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		56			SCAN box.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.168C>T	CCDS1631.1																																																																																				0.706	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		4	30	0	0	0	1	0	4	30				
ANK2	287	broad.mit.edu	37	4	114120208	114120208	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114120208A>G	ENST00000357077.4	+	4	380	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ANK2_ENST00000506722.1_Silent_p.Q88Q|ANK2_ENST00000394537.3_Silent_p.Q109Q|ANK2_ENST00000264366.6_Silent_p.Q109Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	109					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTGGACAAGCAGAAGTTG	0.353																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(325-327)caA>caG		ankyrin 2, neuronal							129.0	128.0	129.0					4																	114120208		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114120208A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.327A>G	4.37:g.114120208A>G						ANK2_ENST00000264366.6_Silent_p.Q109Q|ANK2_ENST00000394537.3_Silent_p.Q109Q|ANK2_ENST00000506722.1_Silent_p.Q88Q	p.Q109Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	4	380	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	109					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.327A>G	CCDS3702.1																																																																																				0.353	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	43	0	0	0	1	0	22	43				
TTYH2	94015	broad.mit.edu	37	17	72249269	72249269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249269G>A	ENST00000269346.4	+	12	1383	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	TTYH2_ENST00000529107.1_Missense_Mutation_p.A416T|TTYH2_ENST00000441391.2_Missense_Mutation_p.A116T	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	437						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TAACCCCCAAGCCTGGCGCAT	0.592																																						ENST00000441391.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(346-348)Gcc>Acc		tweety family member 2							126.0	125.0	125.0					17																	72249269		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72249269G>A		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1309G>A	17.37:g.72249269G>A	ENSP00000269346:p.Ala437Thr					TTYH2_ENST00000269346.4_Missense_Mutation_p.A437T|TTYH2_ENST00000529107.1_Missense_Mutation_p.A416T	p.A116T	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN			6	1558	+			437					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.346G>A	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335627	0.81801	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.25250	2.83;2.62;1.81	4.51	4.51	0.55191	.	0.291769	0.30714	N	0.009026	T	0.31670	0.0804	L	0.41236	1.265	0.45239	D	0.998247	P;D	0.58268	0.851;0.982	B;P	0.50490	0.297;0.642	T	0.05321	-1.0892	10	0.51188	T	0.08	-29.8862	16.1501	0.81611	0.0:0.0:1.0:0.0	.	416;437	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	T	437;416;116	ENSP00000269346:A437T;ENSP00000433089:A416T;ENSP00000394576:A116T	ENSP00000269346:A437T	A	+	1	0	TTYH2	69760864	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.992000	0.70609	2.318000	0.78349	0.561000	0.74099	GCC		0.592	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			41	78	0	0	0	1	0	41	78				
RBFA	79863	broad.mit.edu	37	18	77797335	77797335	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77797335C>T	ENST00000306735.5	+	3	345	c.207C>T	c.(205-207)taC>taT	p.Y69Y	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Silent_p.Y69Y	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	69					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGGAGACTTACAAACCATCCA	0.552																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(205-207)taC>taT		ribosome binding factor A (putative)							73.0	74.0	74.0					18																	77797335		2203	4300	6503	SO:0001819	synonymous_variant	79863				rRNA processing	mitochondrion		g.chr18:77797335C>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.207C>T	18.37:g.77797335C>T						RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Silent_p.Y69Y	p.Y69Y	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			3	345	+			69					Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	c.207C>T	CCDS12021.1																																																																																				0.552	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		21	48	0	0	0	1	0	21	48				
TRGV9	6983	broad.mit.edu	37	7	38356626	38356626	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38356626A>C	ENST00000444775.2	-	0	1726									T cell receptor gamma variable 9																		TGCACCTCCCACAAGGCACAG	0.428																																						ENST00000444775.2																			0																				68.0	65.0	66.0					7																	38356626		1942	4150	6092			0							g.chr7:38356626A>C	X07205		7p14	2012-02-07			ENSG00000211695	ENSG00000211695		"""T cell receptors / TRG locus"""	12295	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V9"""			TCRGV9		2969332, 2806544	Standard	NG_001336		Approved	V2			OTTHUMG00000155218		7.37:g.38356626A>C														0	1726	-									RNA	SNP	ENST00000444775.2	37																																																																																						0.428	TRGV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338824.3	NG_001336		4	49	0	0	0	1	0	4	49				
C1orf101	257044	broad.mit.edu	37	1	244756882	244756882	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244756882T>C	ENST00000366534.4	+	17	2357		c.e17+2		C1orf101_ENST00000366533.4_Splice_Site|C1orf101_ENST00000366531.3_Splice_Site|C1orf101_ENST00000473875.1_Splice_Site	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101							CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGTTCAACTGTAAGTATATTC	0.348																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.e17+2		chromosome 1 open reading frame 101							49.0	49.0	49.0					1																	244756882		2203	4300	6503	SO:0001630	splice_region_variant	257044					integral to membrane		g.chr1:244756882T>C	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2303+2T>C	1.37:g.244756882T>C						C1orf101_ENST00000366531.3_Splice_Site|C1orf101_ENST00000366533.4_Splice_Site|C1orf101_ENST00000473875.1_Splice_Site		NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		17	2357	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)							B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Splice_Site	SNP	ENST00000366534.4	37		CCDS44340.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435037	0.25813	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7809	0.40647	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf101	242823505	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	3.147000	0.50639	1.865000	0.54081	0.460000	0.39030	.		0.348	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	Intron	33	30	0	0	0	1	0	33	30				
EDEM2	55741	broad.mit.edu	37	20	33703440	33703440	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33703440G>A	ENST00000374492.3	-	11	1638	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	EDEM2_ENST00000374491.3_Silent_p.S474S|EDEM2_ENST00000542871.1_Silent_p.S235S|EDEM2_ENST00000541621.1_Silent_p.S290S|SNORD56_ENST00000364281.1_RNA	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	511				S -> C (in Ref. 1; BAA91806). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATTTCGACCTGCTCCGTTTGA	0.552																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000374492.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1531-1533)agC>agT		ER degradation enhancer, mannosidase alpha-like 2							166.0	164.0	165.0					20																	33703440		2203	4300	6503	SO:0001819	synonymous_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33703440G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1533C>T	20.37:g.33703440G>A						EDEM2_ENST00000374491.2_Silent_p.S474S|EDEM2_ENST00000542871.1_Silent_p.S235S|EDEM2_ENST00000541621.1_Silent_p.S290S	p.S511S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1638	-			511	S -> C (in Ref. 1; BAA91806).				B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.1533C>T	CCDS13247.1																																																																																				0.552	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		16	176	0	0	0	1	0	16	176				
ABCA9	10350	broad.mit.edu	37	17	66979978	66979978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66979978G>A	ENST00000340001.4	-	36	4723	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Silent_p.S1466S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1504	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4510-4512)tcC>tcT		ATP-binding cassette, sub-family A (ABC1), member 9							98.0	88.0	91.0					17																	66979978		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66979978G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4512C>T	17.37:g.66979978G>A						ABCA9_ENST00000453985.2_Silent_p.S1466S|ABCA9_ENST00000370732.2_3'UTR	p.S1504S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			36	4723	-	Breast(10;1.47e-12)		1504			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4512C>T	CCDS11681.1																																																																																				0.468	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		35	49	0	0	0	1	0	35	49				
HMCN1	83872	broad.mit.edu	37	1	186062785	186062785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186062785G>A	ENST00000271588.4	+	66	10409	c.10180G>A	c.(10180-10182)Gca>Aca	p.A3394T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3394T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3394	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTTACTGGCAGCAGGACAAGT	0.433																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10180-10182)Gca>Aca		hemicentin 1							78.0	81.0	80.0					1																	186062785		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186062785G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10180G>A	1.37:g.186062785G>A	ENSP00000271588:p.Ala3394Thr					HMCN1_ENST00000367492.2_Missense_Mutation_p.A3394T	p.A3394T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			66	10409	+			3394			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10180G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992350	0.74703	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.76316	-1.01;-1.01	5.0	4.08	0.47627	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.292405	0.36854	N	0.002376	T	0.66944	0.2841	N	0.25426	0.745	0.47737	D	0.999504	P	0.36837	0.571	B	0.41571	0.36	T	0.62048	-0.6936	10	0.13853	T	0.58	.	12.759	0.57352	0.0791:0.0:0.9209:0.0	.	3394	Q96RW7	HMCN1_HUMAN	T	3394	ENSP00000271588:A3394T;ENSP00000356462:A3394T	ENSP00000271588:A3394T	A	+	1	0	HMCN1	184329408	1.000000	0.71417	0.994000	0.49952	0.927000	0.56198	7.319000	0.79040	2.324000	0.78689	0.585000	0.79938	GCA		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	64	0	0	0	1	0	4	64				
CENPF	1063	broad.mit.edu	37	1	214811346	214811346	+	Splice_Site	SNP	T	T	C	rs374131527		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214811346T>C	ENST00000366955.3	+	11	1750		c.e11+2			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAATGAAAGGTAAGTAAACTT	0.388																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.e11+2		centromere protein F, 350/400kDa		T		0,4406		0,0,2203	59.0	62.0	61.0			5.9	1.0	1		61	2,8598	2.2+/-6.3	0,2,4298	no	splice-5	CENPF	NM_016343.3		0,2,6501	CC,CT,TT		0.0233,0.0,0.0154			214811346	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214811346T>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1582+2T>C	1.37:g.214811346T>C								NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	11	1750	+								Q13171|Q13246|Q5VVM7	Splice_Site	SNP	ENST00000366955.3	37		CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321681	0.81580	0.0	2.33E-4	ENSG00000117724	ENST00000366955	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPF	212877969	1.000000	0.71417	0.970000	0.41538	0.955000	0.61496	4.668000	0.61568	2.251000	0.74343	0.528000	0.53228	.		0.388	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	Intron	27	44	0	0	0	1	0	27	44				
PTK6	5753	broad.mit.edu	37	20	62168629	62168629	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62168629A>C	ENST00000217185.2	-	1	66	c.39T>G	c.(37-39)taT>taG	p.Y13*	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	13	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	AGAGGCCCACATACTTGGGGC	0.701																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(37-39)taT>taG		protein tyrosine kinase 6							18.0	18.0	18.0					20																	62168629		2186	4287	6473	SO:0001587	stop_gained	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62168629A>C	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.39T>G	20.37:g.62168629A>C	ENSP00000217185:p.Tyr13*					PTK6_ENST00000542869.1_5'UTR	p.Y13*	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		1	66	-	all_cancers(38;2.51e-11)		13			SH3.		B2RCR3|B4DW46|Q58F01	Nonsense_Mutation	SNP	ENST00000217185.2	37	c.39T>G	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049154	0.36181	.	.	ENSG00000101213	ENST00000217185	.	.	.	4.48	-8.96	0.00761	.	0.000000	0.35407	U	0.003225	.	.	.	.	.	.	0.37786	D	0.927185	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	15.4552	0.75308	0.7037:0.0:0.2963:0.0	.	.	.	.	X	13	.	ENSP00000217185:Y13X	Y	-	3	2	PTK6	61639073	0.000000	0.05858	0.057000	0.19452	0.005000	0.04900	-3.229000	0.00549	-1.966000	0.01009	-1.702000	0.00720	TAT		0.701	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			2	3	0	0	0	1	0	2	3				
RNF17	56163	broad.mit.edu	37	13	25444764	25444764	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25444764A>G	ENST00000255324.5	+	32	4386	c.4334A>G	c.(4333-4335)gAc>gGc	p.D1445G	RNF17_ENST00000339524.3_Missense_Mutation_p.D455G|RNF17_ENST00000381921.1_Missense_Mutation_p.D1403G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1445					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGCATAGTGACACAGATGAT	0.448																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4333-4335)gAc>gGc		ring finger protein 17							120.0	113.0	116.0					13																	25444764		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25444764A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4334A>G	13.37:g.25444764A>G	ENSP00000255324:p.Asp1445Gly					RNF17_ENST00000381921.1_Missense_Mutation_p.D1403G|RNF17_ENST00000339524.3_Missense_Mutation_p.D455G	p.D1445G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	32	4386	+		Lung SC(185;0.0225)|Breast(139;0.077)	1445					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4334A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	9.963	1.223437	0.22457	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.24723	3.44;3.43;2.59;1.84	5.59	5.59	0.84812	.	0.413038	0.23107	N	0.051858	T	0.30696	0.0773	M	0.68593	2.085	0.80722	D	1	B;B;P;B	0.40180	0.005;0.004;0.705;0.015	B;B;B;B	0.41510	0.016;0.007;0.359;0.015	T	0.05084	-1.0907	10	0.20519	T	0.43	-3.8332	13.2826	0.60224	1.0:0.0:0.0:0.0	.	1441;455;1439;1445	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	G	1445;1403;769;455	ENSP00000255324:D1445G;ENSP00000371346:D1403G;ENSP00000388892:D769G;ENSP00000344776:D455G	ENSP00000255324:D1445G	D	+	2	0	RNF17	24342764	1.000000	0.71417	0.995000	0.50966	0.377000	0.30045	2.904000	0.48719	2.107000	0.64212	0.482000	0.46254	GAC		0.448	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		8	61	0	0	0	1	0	8	61				
NDUFA10	4705	broad.mit.edu	37	2	240951043	240951043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240951043G>T	ENST00000252711.2	-	6	840	c.740C>A	c.(739-741)cCt>cAt	p.P247H	NDUFA10_ENST00000307300.4_Missense_Mutation_p.P277H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.P247H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	247					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CCTCATCTCAGGGAGAAAGGT	0.443																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(739-741)cCt>cAt		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						152.0	141.0	145.0					2																	240951043		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240951043G>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.740C>A	2.37:g.240951043G>T	ENSP00000252711:p.Pro247His					NDUFA10_ENST00000404554.1_Missense_Mutation_p.P247H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.P277H	p.P247H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	6	840	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	247					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.740C>A	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063237	0.76187	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000448880;ENST00000307300	D;D;D	0.94613	-3.47;-3.47;-3.47	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.96962	0.9008	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.988	D	0.97093	0.9792	10	0.52906	T	0.07	-16.1837	14.801	0.69916	0.0:0.0:1.0:0.0	.	277;247	Q8WXC9;O95299	.;NDUAA_HUMAN	H	12;247;247;247;10;277	ENSP00000252711:P247H;ENSP00000385697:P247H;ENSP00000302321:P277H	ENSP00000252711:P247H	P	-	2	0	NDUFA10	240599716	1.000000	0.71417	0.862000	0.33874	0.974000	0.67602	6.145000	0.71769	2.171000	0.68590	0.655000	0.94253	CCT		0.443	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		21	47	1	0	7.41877e-09	1	8.93215e-09	21	47				
SPEN	23013	broad.mit.edu	37	1	16260357	16260357	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260357C>A	ENST00000375759.3	+	11	7826	c.7622C>A	c.(7621-7623)cCc>cAc	p.P2541H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2541	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCATGGACCCCAAGTATGTG	0.582																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7621-7623)cCc>cAc		spen family transcriptional repressor							203.0	205.0	204.0					1																	16260357		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260357C>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7622C>A	1.37:g.16260357C>A	ENSP00000364912:p.Pro2541His						p.P2541H	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7826	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2541			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7622C>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244505	0.39697	.	.	ENSG00000065526	ENST00000375759	T	0.38077	1.16	5.16	5.16	0.70880	.	.	.	.	.	T	0.43853	0.1266	L	0.59436	1.845	0.80722	D	1	D	0.53312	0.959	P	0.46076	0.503	T	0.45160	-0.9280	9	0.52906	T	0.07	-15.0028	18.6444	0.91406	0.0:1.0:0.0:0.0	.	2541	Q96T58	MINT_HUMAN	H	2541	ENSP00000364912:P2541H	ENSP00000364912:P2541H	P	+	2	0	SPEN	16132944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.475000	0.60210	2.418000	0.82041	0.561000	0.74099	CCC		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		32	244	1	0	2.08457e-15	1	2.67432e-15	32	244				
WHSC1L1	54904	broad.mit.edu	37	8	38162272	38162272	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38162272C>T	ENST00000317025.8	-	14	2961	c.2444G>A	c.(2443-2445)cGc>cAc	p.R815H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R815H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R815H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	815					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTCATCATGCGGCCTGTTTA	0.438			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2443-2445)cGc>cAc		Wolf-Hirschhorn syndrome candidate 1-like 1							77.0	70.0	72.0					8																	38162272		1896	4118	6014	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38162272C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2444G>A	8.37:g.38162272C>T	ENSP00000313983:p.Arg815His					WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R815H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R815H	p.R815H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		14	2961	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	815					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2444G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544861	0.96488	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.96334	-3.98;-3.98;-3.98	5.72	5.72	0.89469	Zinc finger, PHD-type (1);	0.000000	0.48286	U	0.000197	D	0.97015	0.9025	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.97538	1.0084	10	0.72032	D	0.01	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	815;815;815	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	H	815;815;752;815	ENSP00000393284:R815H;ENSP00000313983:R815H;ENSP00000434730:R815H	ENSP00000313983:R815H	R	-	2	0	WHSC1L1	38281429	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	CGC		0.438	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		19	38	0	0	0	1	0	19	38				
KIAA1755	85449	broad.mit.edu	37	20	36841593	36841593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36841593G>A	ENST00000279024.4	-	14	3725	c.3454C>T	c.(3454-3456)Cat>Tat	p.H1152Y		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAAGCAAATGCTCGCGGGCA	0.647																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(3454-3456)Cat>Tat		KIAA1755							46.0	48.0	47.0					20																	36841593		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36841593G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3454C>T	20.37:g.36841593G>A	ENSP00000279024:p.His1152Tyr						p.H1152Y	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			14	3725	-		Myeloproliferative disorder(115;0.00874)	1152					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.3454C>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	6.111	0.388792	0.11581	.	.	ENSG00000149633	ENST00000279024	T	0.05649	3.41	4.58	1.42	0.22433	.	1.622580	0.03425	N	0.206852	T	0.04588	0.0125	N	0.22421	0.69	0.09310	N	1	B	0.32573	0.376	B	0.22601	0.04	T	0.34329	-0.9833	10	0.49607	T	0.09	.	3.2202	0.06712	0.0966:0.1735:0.5506:0.1793	.	1152	Q5JYT7	K1755_HUMAN	Y	1152	ENSP00000279024:H1152Y	ENSP00000279024:H1152Y	H	-	1	0	KIAA1755	36275007	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.423000	0.07034	0.231000	0.21079	-0.258000	0.10820	CAT		0.647	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		24	29	0	0	0	1	0	24	29				
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(5791-5793)cGc>cAc		dysferlin							117.0	107.0	111.0					2																	71906211		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71906211G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5792G>A	2.37:g.71906211G>A	ENSP00000258104:p.Arg1931His					DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H	p.R1931H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			52	6069	+			1931					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5792G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102291	0.20632	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.28	-7.9	0.01169	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.552015	0.21044	N	0.081119	T	0.49029	0.1533	N	0.21373	0.66	0.30778	N	0.742287	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.001;0.0;0.0;0.0;0.001;0.003;0.001;0.0;0.001;0.003;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.002;0.005;0.005;0.005;0.002;0.003;0.005;0.002;0.005;0.002;0.002;0.005;0.005;0.002	T	0.09618	-1.0666	10	0.20046	T	0.44	-2.9078	15.6058	0.76668	0.6902:0.0:0.3098:0.0	.	695;1963;1970;1953;1918;1949;1939;1948;1938;1962;1969;1952;1917;1932;1931	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1962;1948;1969;1952;1931;1963;1932;1939;1953;1970;1949	ENSP00000407046:R1962H;ENSP00000387137:R1948H;ENSP00000386547:R1969H;ENSP00000398305:R1952H;ENSP00000258104:R1931H;ENSP00000386683:R1963H;ENSP00000377678:R1932H;ENSP00000386285:R1939H;ENSP00000386512:R1953H;ENSP00000386881:R1970H;ENSP00000386617:R1949H	ENSP00000258104:R1931H	R	+	2	0	DYSF	71759719	0.012000	0.17670	0.251000	0.24312	0.982000	0.71751	-0.679000	0.05203	-2.260000	0.00692	-0.897000	0.02905	CGC		0.547	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	19	0	0	0	1	0	10	19				
LCT	3938	broad.mit.edu	37	2	136594306	136594306	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136594306T>C	ENST00000264162.2	-	1	444	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	145	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGCAAAGGCTTCGGTTCTCCG	0.597																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(433-435)gAa>gGa		lactase							110.0	98.0	102.0					2																	136594306		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594306T>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.434A>G	2.37:g.136594306T>C	ENSP00000264162:p.Glu145Gly						p.E145G	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	444	-			145			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.434A>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	t	2.932	-0.220874	0.06061	.	.	ENSG00000115850	ENST00000264162	T	0.18960	2.18	5.83	-5.71	0.02413	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.966680	0.02001	N	0.046315	T	0.14313	0.0346	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17623	-1.0363	10	0.15952	T	0.53	0.1569	5.2947	0.15747	0.1161:0.4917:0.2358:0.1564	.	145	P09848	LPH_HUMAN	G	145	ENSP00000264162:E145G	ENSP00000264162:E145G	E	-	2	0	LCT	136310776	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.464000	0.06688	-1.092000	0.03062	-1.163000	0.01768	GAA		0.597	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		6	39	0	0	0	1	0	6	39				
ARHGAP9	64333	broad.mit.edu	37	12	57872425	57872425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57872425G>A	ENST00000356411.2	-	3	570	c.432C>T	c.(430-432)agC>agT	p.S144S	ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550288.1_Silent_p.S223S|ARHGAP9_ENST00000393791.3_Silent_p.S144S|ARHGAP9_ENST00000393797.2_Silent_p.S215S|ARHGAP9_ENST00000424809.2_Silent_p.S144S|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	144					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GATTGTCAGTGCTGACGCTCC	0.592																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(643-645)agC>agT		Rho GTPase activating protein 9							98.0	91.0	93.0					12																	57872425		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872425G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.432C>T	12.37:g.57872425G>A						ARHGAP9_ENST00000424809.2_Silent_p.S144S|ARHGAP9_ENST00000550288.1_Silent_p.S223S|ARHGAP9_ENST00000356411.2_Silent_p.S144S|ARHGAP9_ENST00000393791.3_Silent_p.S144S	p.S215S			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		6	837	-			144			WW.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.645C>T																																																																																					0.592	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		9	105	0	0	0	1	0	9	105				
HSD17B13	345275	broad.mit.edu	37	4	88238285	88238285	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88238285T>C	ENST00000328546.4	-	3	473	c.409A>G	c.(409-411)Att>Gtt	p.I137V	HSD17B13_ENST00000302219.6_Missense_Mutation_p.I101V|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	137						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTTGGTAATCTCTTCATCC	0.403																																						ENST00000328546.4																			0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(409-411)Att>Gtt		hydroxysteroid (17-beta) dehydrogenase 13							160.0	149.0	153.0					4																	88238285		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88238285T>C		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.409A>G	4.37:g.88238285T>C	ENSP00000333300:p.Ile137Val					HSD17B13_ENST00000302219.6_Missense_Mutation_p.I101V	p.I137V	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	3	473	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	137					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.409A>G	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.052227	0.36181	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.87412	-2.25;-2.25	4.93	3.74	0.42951	NAD(P)-binding domain (1);	0.264740	0.32002	N	0.006728	D	0.87970	0.6312	L	0.43646	1.37	0.32056	N	0.596284	P;P	0.51449	0.692;0.945	P;P	0.59288	0.664;0.855	D	0.87315	0.2314	10	0.37606	T	0.19	.	10.622	0.45484	0.0:0.0766:0.0:0.9234	.	101;137	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	V	101;137	ENSP00000305438:I101V;ENSP00000333300:I137V	ENSP00000305438:I101V	I	-	1	0	HSD17B13	88457309	1.000000	0.71417	0.540000	0.28089	0.461000	0.32589	3.399000	0.52586	0.996000	0.38943	0.528000	0.53228	ATT		0.403	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		11	80	0	0	0	1	0	11	80				
LDB1	8861	broad.mit.edu	37	10	103870645	103870645	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103870645C>T	ENST00000425280.1	-	5	675	c.333G>A	c.(331-333)gaG>gaA	p.E111E	LDB1_ENST00000361198.5_Silent_p.E75E|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	111					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TTGGTCCATCCTCCAGGCAGA	0.498																																						ENST00000361198.5																			0				breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(223-225)gaG>gaA		LIM domain binding 1							135.0	129.0	131.0					10																	103870645		2203	4300	6503	SO:0001819	synonymous_variant	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103870645C>T	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.333G>A	10.37:g.103870645C>T						LDB1_ENST00000425280.1_Silent_p.E111E|LDB1_ENST00000490751.1_5'UTR	p.E75E	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	5	848	-		Colorectal(252;0.122)	111					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Silent	SNP	ENST00000425280.1	37	c.225G>A	CCDS44472.1																																																																																				0.498	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		30	48	0	0	0	1	0	30	48				
DYNC2H1	79659	broad.mit.edu	37	11	103048401	103048401	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048401T>C	ENST00000375735.2	+	38	6135	c.5991T>C	c.(5989-5991)tgT>tgC	p.C1997C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C1997C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1997	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCGCTTTGTAAAACTGGCA	0.403																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(5989-5991)tgT>tgC		dynein, cytoplasmic 2, heavy chain 1							115.0	114.0	115.0					11																	103048401		1905	4114	6019	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103048401T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5991T>C	11.37:g.103048401T>C						DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C1997C	p.C1997C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	38	6135	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1997			AAA 2 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.5991T>C	CCDS53701.1																																																																																				0.403	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		15	44	0	0	0	1	0	15	44				
HCFC1	3054	broad.mit.edu	37	X	153227081	153227081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153227081G>A	ENST00000310441.7	-	6	1782	c.816C>T	c.(814-816)ggC>ggT	p.G272G	HCFC1_ENST00000461098.1_Intron|HCFC1_ENST00000354233.3_Silent_p.G272G|HCFC1_ENST00000369984.4_Silent_p.G272G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	272					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCCAGCCACCAAACA	0.547																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(814-816)ggC>ggT		host cell factor C1 (VP16-accessory protein)							55.0	58.0	57.0					X																	153227081		2072	4187	6259	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153227081G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.816C>T	X.37:g.153227081G>A						HCFC1_ENST00000369984.4_Silent_p.G272G|HCFC1_ENST00000461098.1_Intron|HCFC1_ENST00000354233.3_Silent_p.G272G	p.G272G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			6	1782	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		272					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.816C>T	CCDS44020.1																																																																																				0.547	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		9	13	0	0	0	1	0	9	13				
DHX9	1660	broad.mit.edu	37	1	182853875	182853875	+	Missense_Mutation	SNP	C	C	T	rs370793590		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182853875C>T	ENST00000367549.3	+	27	3498	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1130					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTAAATGAACGTATGCTGAA	0.478																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3388-3390)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box helicase 9		C	CYS/ARG	1,3987		0,1,1993	128.0	117.0	121.0		3388	4.7	0.6	1		121	0,8364		0,0,4182	no	missense	DHX9	NM_001357.4	180	0,1,6175	TT,TC,CC		0.0,0.0251,0.0081	possibly-damaging	1130/1271	182853875	1,12351	1994	4182	6176	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182853875C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3388C>T	1.37:g.182853875C>T	ENSP00000356520:p.Arg1130Cys					DHX9_ENST00000485081.1_3'UTR	p.R1130C	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			27	3498	+			1130					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3388C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829472	0.50845	2.51E-4	0.0	ENSG00000135829	ENST00000367549	D	0.85013	-1.93	5.57	4.66	0.58398	.	0.195201	0.39615	N	0.001313	D	0.85062	0.5611	L	0.53249	1.67	0.09310	N	0.999993	D;D	0.69078	0.997;0.991	P;P	0.51657	0.676;0.462	T	0.78573	-0.2152	10	0.72032	D	0.01	.	8.7264	0.34471	0.3737:0.5576:0.0:0.0687	.	409;1130	B3KU66;Q08211	.;DHX9_HUMAN	C	1130	ENSP00000356520:R1130C	ENSP00000356520:R1130C	R	+	1	0	DHX9	181120498	0.028000	0.19301	0.590000	0.28732	0.805000	0.45488	0.643000	0.24750	1.478000	0.48253	0.650000	0.86243	CGT		0.478	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		42	50	0	0	0	1	0	42	50				
GAST	2520	broad.mit.edu	37	17	39871718	39871718	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39871718C>A	ENST00000329402.3	+	2	97	c.30C>A	c.(28-30)atC>atA	p.I10I	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	10					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGTGCTGATCTTTGCACTGG	0.602																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(28-30)atC>atA		gastrin							266.0	260.0	262.0					17																	39871718		2203	4300	6503	SO:0001819	synonymous_variant	2520					extracellular region	hormone activity	g.chr17:39871718C>A		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.30C>A	17.37:g.39871718C>A						JUP_ENST00000540235.1_Intron	p.I10I	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	97	+		Breast(137;0.000307)	10					P78463|P78464	Silent	SNP	ENST00000329402.3	37	c.30C>A	CCDS11404.1																																																																																				0.602	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			30	296	1	0	2.85442e-18	1	3.71821e-18	30	296				
IQGAP1	8826	broad.mit.edu	37	15	91030306	91030306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91030306G>A	ENST00000268182.5	+	32	4269	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R810Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1382	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGATGCTCGAACCATCTTA	0.463																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4144-4146)cGa>cAa		IQ motif containing GTPase activating protein 1							109.0	94.0	99.0					15																	91030306		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91030306G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4145G>A	15.37:g.91030306G>A	ENSP00000268182:p.Arg1382Gln					IQGAP1_ENST00000560738.1_Missense_Mutation_p.R810Q	p.R1382Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		32	4269	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1382			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.4145G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511106	0.44660	.	.	ENSG00000140575	ENST00000268182	T	0.37411	1.2	5.59	4.67	0.58626	.	0.133059	0.46145	D	0.000305	T	0.18425	0.0442	N	0.11756	0.17	0.38397	D	0.945555	B	0.26975	0.165	B	0.19666	0.026	T	0.11012	-1.0605	10	0.25106	T	0.35	-22.1551	9.3308	0.38021	0.1574:0.0:0.8426:0.0	.	1382	P46940	IQGA1_HUMAN	Q	1382	ENSP00000268182:R1382Q	ENSP00000268182:R1382Q	R	+	2	0	IQGAP1	88831310	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.889000	0.48601	2.615000	0.88500	0.557000	0.71058	CGA		0.463	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		19	45	0	0	0	1	0	19	45				
IL3RA	3563	broad.mit.edu	37	X	1471117	1471117	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1471117C>T	ENST00000331035.4	+	5	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	IL3RA_ENST00000381469.2_Silent_p.N63N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	141					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													c|||	9	0.00179712	0.0	0.0014	5008	,	,		15375	0.0		0.003	False		,,,				2504	0.0051					ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(421-423)aaC>aaT		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)	C		0,4406		0,0,2203	129.0	136.0	133.0		423	-3.8	0.0	X	dbSNP_134	133	14,8578		0,14,4282	no	coding-synonymous	IL3RA	NM_002183.2		0,14,6485	TT,TC,CC		0.1629,0.0,0.1077		141/379	1471117	14,12984	2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471117C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.423C>T	X.37:g.1471117C>T						IL3RA_ENST00000381469.2_Silent_p.N63N	p.N141N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			5	772	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	141					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.423C>T	CCDS14113.1																																																																																				0.647	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			21	51	0	0	0	1	0	21	51				
SLCO3A1	28232	broad.mit.edu	37	15	92647619	92647619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92647619C>T	ENST00000318445.6	+	4	1070	c.856C>T	c.(856-858)Cca>Tca	p.P286S	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P286S|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	286					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GTTTGGGTTTCCACAGTCCCT	0.607																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(856-858)Cca>Tca		solute carrier organic anion transporter family, member 3A1							165.0	139.0	148.0					15																	92647619		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92647619C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.856C>T	15.37:g.92647619C>T	ENSP00000320634:p.Pro286Ser					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P286S	p.P286S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		4	1070	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		286					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.856C>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932877	0.92458	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649;ENST00000555549	T;T	0.62105	0.05;0.05	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);	0.059054	0.64402	D	0.000001	D	0.85261	0.5656	H	0.94582	3.555	0.80722	D	1	D;D;D	0.76494	0.998;0.979;0.999	D;P;D	0.77557	0.952;0.776;0.99	D	0.89765	0.3950	10	0.87932	D	0	.	18.5528	0.91072	0.0:1.0:0.0:0.0	.	228;286;286	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	286;286;79;5	ENSP00000320634:P286S;ENSP00000387846:P286S	ENSP00000320634:P286S	P	+	1	0	SLCO3A1	90448623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.193000	0.77780	2.353000	0.79882	0.655000	0.94253	CCA		0.607	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		27	53	0	0	0	1	0	27	53				
USP7	7874	broad.mit.edu	37	16	9004625	9004625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9004625C>T	ENST00000344836.4	-	11	1336	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	USP7_ENST00000535863.1_Missense_Mutation_p.D281N|USP7_ENST00000381886.4_Missense_Mutation_p.D364N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	380	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAGCGTCGTATTTATTG	0.363																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1138-1140)Gac>Aac		ubiquitin specific peptidase 7 (herpes virus-associated)							166.0	136.0	146.0					16																	9004625		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9004625C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1138G>A	16.37:g.9004625C>T	ENSP00000343535:p.Asp380Asn					USP7_ENST00000381886.4_Missense_Mutation_p.D364N|USP7_ENST00000535863.1_Missense_Mutation_p.D281N	p.D380N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			11	1336	-			380					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1138G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758200	0.69763	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05258	3.47;3.47;3.47	5.35	5.35	0.76521	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.897;0.997	T	0.00516	-1.1694	10	0.27082	T	0.32	.	19.4169	0.94704	0.0:1.0:0.0:0.0	.	380;364	Q93009;B7Z815	UBP7_HUMAN;.	N	380;388;281;281;322	ENSP00000343535:D380N;ENSP00000443646:D281N;ENSP00000439272:D322N	ENSP00000343535:D380N	D	-	1	0	USP7	8912126	1.000000	0.71417	0.986000	0.45419	0.826000	0.46750	7.616000	0.83018	2.670000	0.90874	0.549000	0.68633	GAC		0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			29	28	0	0	0	1	0	29	28				
TMEM54	113452	broad.mit.edu	37	1	33360916	33360916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33360916C>T	ENST00000373463.3	-	5	703	c.584G>A	c.(583-585)aGc>aAc	p.S195N	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Missense_Mutation_p.S142N	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	195						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATGTGGTGGCTGCTTTTCCC	0.627																																						ENST00000373463.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(583-585)aGc>aAc		transmembrane protein 54							66.0	51.0	56.0					1																	33360916		2203	4300	6503	SO:0001583	missense	113452					integral to membrane		g.chr1:33360916C>T		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.584G>A	1.37:g.33360916C>T	ENSP00000362562:p.Ser195Asn					TMEM54_ENST00000329151.5_Missense_Mutation_p.S142N|TMEM54_ENST00000475208.1_5'UTR	p.S195N	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN			5	703	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	195					Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	c.584G>A	CCDS371.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942703	0.34283	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T;T	0.43688	0.94;0.94	5.38	3.51	0.40186	.	0.684975	0.16930	N	0.193724	T	0.33352	0.0860	L	0.43152	1.355	0.23406	N	0.997745	B;B;B	0.14438	0.004;0.01;0.006	B;B;B	0.12156	0.006;0.006;0.007	T	0.18713	-1.0328	10	0.27082	T	0.32	.	10.0671	0.42311	0.0:0.8353:0.0:0.1647	.	175;142;195	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	N	195;142	ENSP00000362562:S195N;ENSP00000328630:S142N	ENSP00000328630:S142N	S	-	2	0	TMEM54	33133503	0.964000	0.33143	0.995000	0.50966	0.848000	0.48234	0.532000	0.23067	0.783000	0.33636	0.650000	0.86243	AGC		0.627	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		7	13	0	0	0	1	0	7	13				
NELL1	4745	broad.mit.edu	37	11	20939758	20939758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20939758A>G	ENST00000357134.5	+	6	786	c.634A>G	c.(634-636)Atg>Gtg	p.M212V	NELL1_ENST00000298925.5_Missense_Mutation_p.M240V|NELL1_ENST00000532434.1_Missense_Mutation_p.M212V|NELL1_ENST00000325319.5_Missense_Mutation_p.M155V	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	212	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATCATCTTTATGCCGAATGG	0.368																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(718-720)Atg>Gtg		NEL-like 1 (chicken)							158.0	152.0	154.0					11																	20939758		2203	4299	6502	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20939758A>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.634A>G	11.37:g.20939758A>G	ENSP00000349654:p.Met212Val					NELL1_ENST00000325319.5_Missense_Mutation_p.M155V|NELL1_ENST00000357134.5_Missense_Mutation_p.M212V|NELL1_ENST00000532434.1_Missense_Mutation_p.M212V	p.M240V			Q92832	NELL1_HUMAN			7	871	+			212					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.718A>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802133	0.50315	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.77489	4.47;4.47;-1.1;4.47	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.145134	0.64402	D	0.000007	T	0.72104	0.3419	L	0.49126	1.545	0.36501	D	0.868987	B;B;B;B	0.22480	0.043;0.07;0.02;0.025	B;B;B;B	0.18561	0.022;0.01;0.02;0.01	T	0.70974	-0.4726	10	0.15499	T	0.54	-23.5919	16.3943	0.83563	1.0:0.0:0.0:0.0	.	155;240;212;212	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	V	240;212;155;212	ENSP00000298925:M240V;ENSP00000349654:M212V;ENSP00000317837:M155V;ENSP00000437170:M212V	ENSP00000298925:M240V	M	+	1	0	NELL1	20896334	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.796000	0.75145	2.281000	0.76405	0.533000	0.62120	ATG		0.368	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		38	70	0	0	0	1	0	38	70				
ORC5	5001	broad.mit.edu	37	7	103828795	103828795	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103828795A>T	ENST00000297431.4	-	6	730	c.588T>A	c.(586-588)ccT>ccA	p.P196P	ORC5_ENST00000447452.2_Silent_p.P196P|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_Silent_p.P64P	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	196					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AATACTCTGGAGGATGATCAT	0.368																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(190-192)ccT>ccA		origin recognition complex, subunit 5							142.0	150.0	147.0					7																	103828795		2203	4300	6503	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103828795A>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.588T>A	7.37:g.103828795A>T						ORC5_ENST00000447452.2_Silent_p.P196P|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000297431.4_Silent_p.P196P	p.P64P			O43913	ORC5_HUMAN			7	817	-			196					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.192T>A	CCDS5734.1																																																																																				0.368	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		6	157	0	0	0	1	0	6	157				
ICAM1	3383	broad.mit.edu	37	19	10395205	10395205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10395205G>A	ENST00000264832.3	+	5	1377	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.G129D|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	351	Ig-like C2-type 4.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CAGCCACTGGGCCCGAGGGCC	0.637																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1051-1053)gGc>gAc		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						38.0	48.0	44.0					19																	10395205		2202	4295	6497	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395205G>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1052G>A	19.37:g.10395205G>A	ENSP00000264832:p.Gly351Asp					ICAM1_ENST00000423829.2_Missense_Mutation_p.G129D|CTD-2369P2.5_ENST00000592893.1_RNA	p.G351D	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		5	1377	+			351			Ig-like C2-type 4.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.1052G>A	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049756	0.36181	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.11385	2.78;2.78	3.77	-7.54	0.01332	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.218540	0.03215	N	0.176633	T	0.17662	0.0424	L	0.52126	1.63	0.09310	N	1	P;D	0.54207	0.717;0.965	B;D	0.63192	0.243;0.912	T	0.49123	-0.8972	10	0.59425	D	0.04	-0.5241	1.955	0.03374	0.2291:0.1645:0.4218:0.1846	.	129;351	E7ESS4;P05362	.;ICAM1_HUMAN	D	351;129	ENSP00000264832:G351D;ENSP00000413124:G129D	ENSP00000264832:G351D	G	+	2	0	ICAM1	10256205	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.055000	0.01397	-1.059000	0.03193	0.407000	0.27541	GGC		0.637	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			29	42	0	0	0	1	0	29	42				
CCR7	1236	broad.mit.edu	37	17	38711144	38711144	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38711144G>A	ENST00000246657.2	-	3	1049	c.987C>T	c.(985-987)atC>atT	p.I329I	CCR7_ENST00000579344.1_Silent_p.I323I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	329					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACTTGACGCCGATGAAGGCGT	0.597																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(985-987)atC>atT		chemokine (C-C motif) receptor 7							153.0	127.0	136.0					17																	38711144		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711144G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.987C>T	17.37:g.38711144G>A						CCR7_ENST00000579344.1_Silent_p.I323I	p.I329I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	1049	-		Breast(137;0.000496)	329						Silent	SNP	ENST00000246657.2	37	c.987C>T	CCDS11369.1																																																																																				0.597	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			4	50	0	0	0	1	0	4	50				
BLNK	29760	broad.mit.edu	37	10	97964351	97964351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964351C>T	ENST00000224337.5	-	12	980	c.839G>A	c.(838-840)cGc>cAc	p.R280H	BLNK_ENST00000371176.2_Missense_Mutation_p.R257H|BLNK_ENST00000427367.2_Missense_Mutation_p.R280H|BLNK_ENST00000413476.2_Missense_Mutation_p.R280H	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	280					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCCTCGGTGGCGTTCAGCAGG	0.443																																						ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.(838-840)cGc>cAc		B-cell linker							112.0	105.0	108.0					10																	97964351		2203	4300	6503	SO:0001583	missense	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97964351C>T	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.839G>A	10.37:g.97964351C>T	ENSP00000224337:p.Arg280His					BLNK_ENST00000427367.2_Missense_Mutation_p.R280H|BLNK_ENST00000371176.2_Missense_Mutation_p.R257H|BLNK_ENST00000413476.2_Missense_Mutation_p.R280H	p.R280H	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	12	980	-		Colorectal(252;0.083)	280					O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	c.839G>A	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867297	0.91511	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.64	5.64	0.86602	.	0.233245	0.44902	D	0.000407	T	0.78432	0.4282	M	0.70275	2.135	0.50039	D	0.999843	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	0.91635	0.966;0.995;0.999;0.997;0.998;0.999	T	0.77310	-0.2635	9	0.46703	T	0.11	-15.761	16.9807	0.86326	0.0:1.0:0.0:0.0	.	257;280;257;175;257;280	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	H	280;257;280;280;175	.	ENSP00000224337:R280H	R	-	2	0	BLNK	97954341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.261000	0.58841	2.826000	0.97356	0.561000	0.74099	CGC		0.443	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		27	50	0	0	0	1	0	27	50				
ZBED8	63920	broad.mit.edu	37	5	159821798	159821798	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159821798G>T	ENST00000408953.3	-	2	1207	c.700C>A	c.(700-702)Ctt>Att	p.L234I	C5orf54_ENST00000523213.1_Missense_Mutation_p.L234I	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						catacatcaagtgctatctta	0.403																																						ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(700-702)Ctt>Att		chromosome 5 open reading frame 54							113.0	103.0	106.0					5																	159821798		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159821798G>T																												ENST00000408953.3:c.700C>A	5.37:g.159821798G>T	ENSP00000386184:p.Leu234Ile					C5orf54_ENST00000523213.1_Missense_Mutation_p.L234I	p.L234I	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	1207	-			234						Missense_Mutation	SNP	ENST00000408953.3	37	c.700C>A	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796845	0.50208	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.22134	1.97;1.97	2.84	2.84	0.33178	.	.	.	.	.	T	0.12347	0.0300	N	0.19112	0.55	0.23366	N	0.997828	P	0.52316	0.952	B	0.41036	0.346	T	0.08722	-1.0708	9	0.21014	T	0.42	.	9.3899	0.38367	0.0:0.0:1.0:0.0	.	234	Q8IZ13	CE054_HUMAN	I	234	ENSP00000386184:L234I;ENSP00000428831:L234I	ENSP00000386184:L234I	L	-	1	0	C5orf54	159754376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.755000	0.38379	1.916000	0.55485	0.655000	0.94253	CTT		0.403	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			7	95	1	0	0.00307968	1	0.00325696	7	95				
ACO1	48	broad.mit.edu	37	9	32408516	32408516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32408516G>A	ENST00000309951.6	+	4	409	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	ACO1_ENST00000379923.1_Missense_Mutation_p.V91M|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	91					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCTTAGGGGTGTGCCCGCTGT	0.423																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(271-273)Gtg>Atg		aconitase 1, soluble							144.0	134.0	137.0					9																	32408516		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32408516G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.271G>A	9.37:g.32408516G>A	ENSP00000309477:p.Val91Met					ACO1_ENST00000309951.5_Missense_Mutation_p.V91M|ACO1_ENST00000541043.1_5'UTR	p.V91M	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	5	477	+			91					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.271G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712073	0.68730	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.19806	2.12;2.12	5.96	5.96	0.96718	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.052035	0.85682	D	0.000000	T	0.60248	0.2254	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69548	-0.5116	10	0.87932	D	0	-17.0198	19.1796	0.93617	0.0:0.0:1.0:0.0	.	91	P21399	ACOC_HUMAN	M	127;91;91;91	ENSP00000309477:V91M;ENSP00000369255:V91M	ENSP00000309477:V91M	V	+	1	0	ACO1	32398516	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	5.702000	0.68332	2.814000	0.96858	0.655000	0.94253	GTG		0.423	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		5	70	0	0	0	1	0	5	70				
C2orf16	84226	broad.mit.edu	37	2	27801488	27801488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801488G>T	ENST00000408964.2	+	1	2100	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	683						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGGGCTTCAGGCTGTGAAAT	0.413																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2047-2049)caG>caT		chromosome 2 open reading frame 16							83.0	79.0	80.0					2																	27801488		1866	4113	5979	SO:0001583	missense	84226							g.chr2:27801488G>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2049G>T	2.37:g.27801488G>T	ENSP00000386190:p.Gln683His						p.Q683H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2100	+	Acute lymphoblastic leukemia(172;0.155)		683					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2049G>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340493	0.41498	.	.	ENSG00000221843	ENST00000408964	T	0.06768	3.26	4.27	-0.656	0.11436	.	.	.	.	.	T	0.13841	0.0335	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.21348	-1.0248	9	0.87932	D	0	.	7.3898	0.26903	0.5029:0.0:0.4971:0.0	.	683	Q68DN1	CB016_HUMAN	H	683	ENSP00000386190:Q683H	ENSP00000386190:Q683H	Q	+	3	2	C2orf16	27654992	0.000000	0.05858	0.001000	0.08648	0.827000	0.46813	-1.377000	0.02558	-0.135000	0.11495	0.561000	0.74099	CAG		0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		29	72	1	0	7.53681e-25	1	1.00085e-24	29	72				
ATP9A	10079	broad.mit.edu	37	20	50221543	50221543	+	Silent	SNP	G	G	A	rs571933122		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50221543G>A	ENST00000338821.5	-	27	3084	c.2820C>T	c.(2818-2820)taC>taT	p.Y940Y	ATP9A_ENST00000311637.5_Silent_p.Y804Y|ATP9A_ENST00000402822.1_Silent_p.Y819Y	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	940					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCGCCCCGTACATGATGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19311	0.0		0.0	False		,,,				2504	0.001					ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2818-2820)taC>taT		ATPase, class II, type 9A							83.0	58.0	67.0					20																	50221543		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50221543G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2820C>T	20.37:g.50221543G>A						ATP9A_ENST00000402822.1_Silent_p.Y819Y|ATP9A_ENST00000311637.5_Silent_p.Y804Y	p.Y940Y	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			27	3084	-			940					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.2820C>T	CCDS33489.1																																																																																				0.612	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	10	0	0	0	1	0	10	10				
RIN3	79890	broad.mit.edu	37	14	93118183	93118183	+	Silent	SNP	G	G	A	rs201235572		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93118183G>A	ENST00000216487.7	+	6	948	c.789G>A	c.(787-789)ccG>ccA	p.P263P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTTTGCCGCCCACCTCTG	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		7659	0.0		0.0	False		,,,				2504	0.0					ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(787-789)ccG>ccA		Ras and Rab interactor 3							88.0	86.0	86.0					14																	93118183		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118183G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.789G>A	14.37:g.93118183G>A						RIN3_ENST00000418924.2_3'UTR	p.P263P	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	948	+		all_cancers(154;0.0701)	263			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.789G>A	CCDS32144.1																																																																																				0.672	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			18	31	0	0	0	1	0	18	31				
F13B	2165	broad.mit.edu	37	1	197021959	197021959	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197021959A>G	ENST00000367412.1	-	9	1403	c.1360T>C	c.(1360-1362)Tgt>Cgt	p.C454R	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	454	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTAACAGTACATGGTTCTGTA	0.259																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1360-1362)Tgt>Cgt		coagulation factor XIII, B polypeptide							76.0	79.0	78.0					1																	197021959		2203	4294	6497	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021959A>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1360T>C	1.37:g.197021959A>G	ENSP00000356382:p.Cys454Arg						p.C454R	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			9	1403	-			454			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1360T>C	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477740	0.63849	.	.	ENSG00000143278	ENST00000367412	D	0.99462	-5.94	5.47	5.47	0.80525	Complement control module (1);	0.000000	0.35708	N	0.003032	D	0.99381	0.9782	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99010	1.0814	10	0.66056	D	0.02	.	15.5513	0.76155	1.0:0.0:0.0:0.0	.	454	P05160	F13B_HUMAN	R	454	ENSP00000356382:C454R	ENSP00000356382:C454R	C	-	1	0	F13B	195288582	0.997000	0.39634	0.537000	0.28052	0.901000	0.52897	6.103000	0.71492	2.070000	0.61991	0.533000	0.62120	TGT		0.259	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		4	77	0	0	0	1	0	4	77				
CKLF	51192	broad.mit.edu	37	16	66599866	66599866	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66599866C>T	ENST00000264001.4	+	4	560	c.411C>T	c.(409-411)agC>agT	p.S137S	CMTM1_ENST00000457188.2_5'Flank|CMTM1_ENST00000328020.6_5'Flank|CKLF_ENST00000563092.1_3'UTR|CMTM1_ENST00000533953.1_5'Flank|CMTM1_ENST00000531885.1_5'Flank|CMTM1_ENST00000332695.7_5'Flank|CMTM1_ENST00000336328.6_5'Flank|CKLF_ENST00000345436.4_Silent_p.S105S|CMTM1_ENST00000533666.1_5'Flank|CMTM1_ENST00000529506.1_5'Flank|CMTM1_ENST00000535705.1_5'Flank|CKLF_ENST00000351137.4_Silent_p.S84S|CKLF-CMTM1_ENST00000532838.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000362093.4_Silent_p.S52S|CMTM1_ENST00000528324.1_5'Flank|CMTM1_ENST00000379500.2_5'Flank|CKLF_ENST00000417030.2_Intron	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	137					cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCAATCCCAGCGGTCCTTACC	0.383																																						ENST00000264001.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(409-411)agC>agT		chemokine-like factor							98.0	92.0	94.0					16																	66599866		2201	4300	6501	SO:0001819	synonymous_variant	51192							g.chr16:66599866C>T	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.411C>T	16.37:g.66599866C>T						CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000362093.4_Silent_p.S52S|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000345436.4_Silent_p.S105S|CKLF_ENST00000351137.4_Silent_p.S84S|CKLF_ENST00000532838.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron	p.S137S	NM_016951.3	NP_058647.1				OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	4	560	+		Ovarian(137;0.0563)						C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Silent	SNP	ENST00000264001.4	37	c.411C>T	CCDS10807.1																																																																																				0.383	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		26	55	0	0	0	1	0	26	55				
LRRIQ4	344657	broad.mit.edu	37	3	169540229	169540229	+	Nonsense_Mutation	SNP	C	C	T	rs371066810		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540229C>T	ENST00000340806.6	+	1	520	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	174										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTACCTGAAGCGAAACCAGTT	0.507																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(520-522)Cga>Tga		leucine-rich repeats and IQ motif containing 4		C	stop/ARG	1,3829		0,1,1914	61.0	63.0	62.0		520	2.3	1.0	3		62	0,8248		0,0,4124	no	stop-gained	LRRIQ4	NM_001080460.1		0,1,6038	TT,TC,CC		0.0,0.0261,0.0083		174/561	169540229	1,12077	1915	4124	6039	SO:0001587	stop_gained	344657							g.chr3:169540229C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.520C>T	3.37:g.169540229C>T	ENSP00000342188:p.Arg174*						p.R174*	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	520	+			174						Nonsense_Mutation	SNP	ENST00000340806.6	37	c.520C>T	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732683	0.89482	2.61E-4	0.0	ENSG00000188306	ENST00000340806	.	.	.	5.56	2.32	0.28847	.	0.812175	0.11150	N	0.594239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	8.672	0.34156	0.5513:0.3361:0.1127:0.0	.	.	.	.	X	174	.	ENSP00000342188:R174X	R	+	1	2	LRRIQ4	171022923	0.000000	0.05858	0.976000	0.42696	0.665000	0.39181	0.357000	0.20199	1.337000	0.45525	0.462000	0.41574	CGA		0.507	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		20	50	0	0	0	1	0	20	50				
GJA4	2701	broad.mit.edu	37	1	35260154	35260154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35260154C>T	ENST00000342280.4	+	2	428	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	114					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGGGAGCTGCGGGCACTGCC	0.652																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(340-342)Cgg>Tgg		gap junction protein, alpha 4, 37kDa							27.0	30.0	29.0					1																	35260154		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260154C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.340C>T	1.37:g.35260154C>T	ENSP00000343676:p.Arg114Trp						p.R114W	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	428	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	114					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.340C>T	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881839	0.51908	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.97888	-4.55;-4.59	5.24	4.26	0.50523	.	1.104460	0.06820	N	0.792107	D	0.98406	0.9470	M	0.66939	2.045	0.48135	D	0.999592	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.913	D	0.95641	0.8698	10	0.72032	D	0.01	.	12.5631	0.56293	0.2915:0.7085:0.0:0.0	.	114;114	Q5JW71;P35212	.;CXA4_HUMAN	W	114	ENSP00000343676:R114W;ENSP00000409186:R114W	ENSP00000343676:R114W	R	+	1	2	GJA4	35032741	0.872000	0.30054	0.997000	0.53966	0.267000	0.26476	1.592000	0.36676	2.430000	0.82344	0.655000	0.94253	CGG		0.652	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		9	19	0	0	0	1	0	9	19				
RYR3	6263	broad.mit.edu	37	15	34130616	34130616	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130616C>A	ENST00000389232.4	+	89	12505	c.12435C>A	c.(12433-12435)gcC>gcA	p.A4145A	RYR3_ENST00000415757.3_Silent_p.A4140A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4145					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTATGGCCTGTGCCTCTG	0.493																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12433-12435)gcC>gcA		ryanodine receptor 3							112.0	114.0	114.0					15																	34130616		1911	4115	6026	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130616C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12435C>A	15.37:g.34130616C>A						RYR3_ENST00000415757.3_Silent_p.A4140A	p.A4145A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12505	+		all_lung(180;7.18e-09)	4145					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.12435C>A	CCDS45210.1																																																																																				0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	73	1	0	1.5739e-10	1	1.9432e-10	13	73				
VWA5A	4013	broad.mit.edu	37	11	123988576	123988576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988576G>T	ENST00000456829.2	+	4	491	c.240G>T	c.(238-240)aaG>aaT	p.K80N	VWA5A_ENST00000392744.4_Missense_Mutation_p.K96N|VWA5A_ENST00000392748.1_Missense_Mutation_p.K80N|VWA5A_ENST00000449321.1_Missense_Mutation_p.K80N|VWA5A_ENST00000360334.4_Missense_Mutation_p.K80N|VWA5A_ENST00000361352.5_Missense_Mutation_p.K80N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	80	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TACAAGACAAGATGAAGGTAG	0.408																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(238-240)aaG>aaT		von Willebrand factor A domain containing 5A							85.0	89.0	88.0					11																	123988576		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123988576G>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.240G>T	11.37:g.123988576G>T	ENSP00000407726:p.Lys80Asn					VWA5A_ENST00000392744.4_Missense_Mutation_p.K96N|VWA5A_ENST00000449321.1_Missense_Mutation_p.K80N|VWA5A_ENST00000360334.4_Missense_Mutation_p.K80N|VWA5A_ENST00000361352.5_Missense_Mutation_p.K80N|VWA5A_ENST00000392748.1_Missense_Mutation_p.K80N	p.K80N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			4	491	+			80			VIT.		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.240G>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699792	0.48307	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.6	4.69	0.59074	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.139397	0.64402	D	0.000005	T	0.70325	0.3211	M	0.92784	3.345	0.42127	D	0.991451	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	T	0.77675	-0.2499	10	0.72032	D	0.01	-26.3487	11.8948	0.52650	0.0843:0.0:0.9157:0.0	.	96;80	B4DHS6;O00534	.;VMA5A_HUMAN	N	80;80;80;80;80;80;80;96	ENSP00000407726:K80N;ENSP00000353485:K80N;ENSP00000376504:K80N;ENSP00000355070:K80N;ENSP00000404683:K80N;ENSP00000376501:K96N	ENSP00000353485:K80N	K	+	3	2	VWA5A	123493786	0.806000	0.28996	0.621000	0.29145	0.332000	0.28634	1.224000	0.32539	1.378000	0.46305	0.655000	0.94253	AAG		0.408	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		7	60	1	0	5.18039e-06	1	5.91835e-06	7	60				
MCF2L	23263	broad.mit.edu	37	13	113729378	113729378	+	Missense_Mutation	SNP	G	G	A	rs145260894		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729378G>A	ENST00000375608.3	+	12	1331	c.1273G>A	c.(1273-1275)Gcg>Acg	p.A425T	MCF2L_ENST00000434480.2_Missense_Mutation_p.A401T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A399T|MCF2L_ENST00000397030.1_Missense_Mutation_p.A428T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A452T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A425T|MCF2L_ENST00000375597.4_Missense_Mutation_p.A393T|MCF2L_ENST00000535094.2_Missense_Mutation_p.A395T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A393T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A399T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	425					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAAGCACTACGCGGTAGACTC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14900	0.0		0.001	False		,,,				2504	0.0					ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1282-1284)Gcg>Acg		MCF.2 cell line derived transforming sequence-like		G	THR/ALA,THR/ALA	0,4406		0,0,2203	79.0	88.0	85.0		1183,1177	4.7	0.2	13	dbSNP_134	85	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	MCF2L	NM_001112732.2,NM_024979.4	58,58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	395/1126,393/1124	113729378	4,13002	2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729378G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1273G>A	13.37:g.113729378G>A	ENSP00000364758:p.Ala425Thr					MCF2L_ENST00000375597.4_Missense_Mutation_p.A393T|MCF2L_ENST00000375608.3_Missense_Mutation_p.A425T|MCF2L_ENST00000535094.2_Missense_Mutation_p.A395T|MCF2L_ENST00000434480.2_Missense_Mutation_p.A401T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A399T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A425T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A452T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A399T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A393T	p.A428T			O15068	MCF2L_HUMAN			11	1319	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	425					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.1282G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	19.40|19.40	3.820916|3.820916	0.71028|0.71028	0.0|0.0	4.65E-4|4.65E-4	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.22336|.	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.059129|.	0.64402|.	D|.	0.000003|.	D|D	0.83571|0.83571	0.5283|0.5283	M|M	0.88450|0.88450	2.955|2.955	0.58432|0.58432	D|D	0.999993|0.999993	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|.	0.85130|.	0.995;0.995;0.995;0.997;0.984;0.997|.	D|D	0.86955|0.86955	0.2088|0.2088	10|5	0.87932|.	D|.	0|.	.|.	17.7214|17.7214	0.88352|0.88352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393;395;452;357;393;425|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	T|H	425;425;452;428;395;399;399;401;393;393;236|55	ENSP00000364758:A425T;ENSP00000401422:A425T;ENSP00000364754:A452T;ENSP00000380225:A428T;ENSP00000440374:A395T;ENSP00000397285:A399T;ENSP00000364751:A399T;ENSP00000407722:A401T;ENSP00000405639:A393T;ENSP00000364747:A393T|.	ENSP00000364747:A393T|.	A|R	+|+	1|2	0|0	MCF2L|MCF2L	112777379|112777379	1.000000|1.000000	0.71417|0.71417	0.193000|0.193000	0.23327|0.23327	0.053000|0.053000	0.15095|0.15095	9.162000|9.162000	0.94745|0.94745	2.150000|2.150000	0.67090|0.67090	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.657	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			34	65	0	0	0	1	0	34	65				
MAGED1	9500	broad.mit.edu	37	X	51641416	51641416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51641416C>T	ENST00000375722.1	+	9	2026	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	MAGED1_ENST00000375772.3_Missense_Mutation_p.R592C|MAGED1_ENST00000375695.2_Missense_Mutation_p.R648C|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.R592C			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	592	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATGGGACTGCGTCCTGGGTA	0.552										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1942-1944)Cgt>Tgt		melanoma antigen family D, 1							145.0	120.0	128.0					X																	51641416		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51641416C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1774C>T	X.37:g.51641416C>T	ENSP00000364874:p.Arg592Cys	Multiple Myeloma(10;0.10)				MAGED1_ENST00000375722.1_Missense_Mutation_p.R592C|MAGED1_ENST00000375772.3_Missense_Mutation_p.R592C|MAGED1_ENST00000326587.7_Missense_Mutation_p.R592C|MAGED1_ENST00000494718.1_3'UTR	p.R648C	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			10	2095	+	Ovarian(276;0.236)		592			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1942C>T	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131474	0.37630	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	3.73	3.73	0.42828	.	0.000000	0.37857	N	0.001903	T	0.10895	0.0266	N	0.17248	0.465	0.47214	D	0.999351	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.14448	-1.0472	10	0.48119	T	0.1	.	10.0356	0.42127	0.0:1.0:0.0:0.0	.	648;592	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	C	592;592;592;648	ENSP00000364927:R592C;ENSP00000364874:R592C;ENSP00000325333:R592C;ENSP00000364847:R648C	ENSP00000325333:R592C	R	+	1	0	MAGED1	51658156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.045000	0.30341	2.121000	0.65114	0.506000	0.49869	CGT		0.552	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		18	35	0	0	0	1	0	18	35				
KMT2A	4297	broad.mit.edu	37	11	118374387	118374387	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118374387C>A	ENST00000389506.5	+	27	7771	c.7771C>A	c.(7771-7773)Ctt>Att	p.L2591I	KMT2A_ENST00000534358.1_Missense_Mutation_p.L2594I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2553I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2591					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTATCAGAATCTTCCAGTACA	0.498																																						ENST00000534358.1																			0											c.(7780-7782)Ctt>Att		lysine (K)-specific methyltransferase 2A							55.0	55.0	55.0					11																	118374387		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118374387C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7771C>A	11.37:g.118374387C>A	ENSP00000374157:p.Leu2591Ile					KMT2A_ENST00000389506.5_Missense_Mutation_p.L2591I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2553I	p.L2594I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7803	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7780C>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232552	0.39498	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82803	-1.65;-1.65;-1.62	5.95	5.01	0.66863	.	0.486110	0.22001	N	0.066020	T	0.67730	0.2924	N	0.24115	0.695	0.34090	D	0.660564	P;P	0.37441	0.595;0.595	B;B	0.31016	0.123;0.123	T	0.72836	-0.4172	10	0.27082	T	0.32	.	9.0797	0.36545	0.0:0.7682:0.1498:0.0819	.	2594;2591	E9PQG7;Q03164	.;MLL1_HUMAN	I	2594;2591;2553;1501	ENSP00000436786:L2594I;ENSP00000374157:L2591I;ENSP00000346516:L2553I	ENSP00000346516:L2553I	L	+	1	0	MLL	117879597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.161000	0.31773	1.458000	0.47871	0.655000	0.94253	CTT		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		11	36	1	0	6.40141e-05	1	7.11719e-05	11	36				
IL34	146433	broad.mit.edu	37	16	70690941	70690941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690941G>A	ENST00000288098.2	+	4	702	c.319G>A	c.(319-321)Gac>Aac	p.D107N	IL34_ENST00000566361.1_Missense_Mutation_p.D82N|IL34_ENST00000429149.2_Missense_Mutation_p.D107N	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	107					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTCGGTGCAGGACGTGCTGCT	0.627																																						ENST00000429149.2																			0				breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(319-321)Gac>Aac		interleukin 34							125.0	105.0	112.0					16																	70690941		2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70690941G>A	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.319G>A	16.37:g.70690941G>A	ENSP00000288098:p.Asp107Asn					IL34_ENST00000566361.1_Missense_Mutation_p.D82N|IL34_ENST00000288098.2_Missense_Mutation_p.D107N	p.D107N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			5	874	+			107					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.319G>A	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155152	0.38021	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.44083	0.93;0.93	5.18	2.85	0.33270	.	0.963414	0.08621	N	0.918574	T	0.32704	0.0838	L	0.34521	1.04	0.26031	N	0.981735	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.20874	-1.0262	10	0.32370	T	0.25	-3.7221	9.7356	0.40386	0.1988:0.0:0.8012:0.0	.	106;107	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	N	107	ENSP00000397863:D107N;ENSP00000288098:D107N	ENSP00000288098:D107N	D	+	1	0	IL34	69248442	0.998000	0.40836	0.764000	0.31436	0.940000	0.58332	2.489000	0.45285	1.180000	0.42898	0.491000	0.48974	GAC		0.627	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		51	90	0	0	0	1	0	51	90				
OR7D2	162998	broad.mit.edu	37	19	9297234	9297234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9297234C>T	ENST00000344248.2	+	1	956	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	259					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGGGGTCCACTTCACTTCTG	0.512																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(775-777)caC>caT		olfactory receptor, family 7, subfamily D, member 2							91.0	80.0	84.0					19																	9297234		2203	4300	6503	SO:0001819	synonymous_variant	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297234C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.777C>T	19.37:g.9297234C>T							p.H259H	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	956	+			259					Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	c.777C>T	CCDS32900.1																																																																																				0.512	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			34	48	0	0	0	1	0	34	48				
PIK3CG	5294	broad.mit.edu	37	7	106508578	106508578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106508578G>A	ENST00000359195.3	+	2	882	c.572G>A	c.(571-573)cGc>cAc	p.R191H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R191H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R191H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	191					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGCCAGCCGCGACCCCAAG	0.607																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(571-573)cGc>cAc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							62.0	66.0	65.0					7																	106508578		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508578G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.572G>A	7.37:g.106508578G>A	ENSP00000352121:p.Arg191His					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R191H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R191H	p.R191H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	882	+			191					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.572G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502007	0.64298	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.73789	-0.78;-0.78;-0.78	5.5	5.5	0.81552	.	0.155813	0.56097	D	0.000024	D	0.85478	0.5706	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82717	-0.0319	10	0.32370	T	0.25	-23.3968	19.7537	0.96281	0.0:0.0:1.0:0.0	.	191	P48736	PK3CG_HUMAN	H	191	ENSP00000392258:R191H;ENSP00000419260:R191H;ENSP00000352121:R191H	ENSP00000352121:R191H	R	+	2	0	PIK3CG	106295814	1.000000	0.71417	0.778000	0.31720	0.263000	0.26337	9.751000	0.98889	2.736000	0.93811	0.591000	0.81541	CGC		0.607	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			16	47	0	0	0	1	0	16	47				
KIF16B	55614	broad.mit.edu	37	20	16385459	16385459	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16385459C>T	ENST00000354981.2	-	17	1940	c.1783G>A	c.(1783-1785)Gga>Aga	p.G595R	KIF16B_ENST00000408042.1_Splice_Site_p.G595R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Splice_Site_p.G595R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	595					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCACTCACCCGGGGTTATAC	0.473																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.e17+1		kinesin family member 16B							102.0	84.0	90.0					20																	16385459		2203	4300	6503	SO:0001630	splice_region_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16385459C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1784+1G>A	20.37:g.16385459C>T						KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Splice_Site_p.G595_splice|KIF16B_ENST00000355755.3_Splice_Site_p.G595_splice	p.G595_splice	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			17	1940	-			595					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Splice_Site	SNP	ENST00000354981.2	37	c.1784_splice	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926721	0.92319	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.70986	-0.53;-0.53;-0.53	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84765	0.0764	10	0.72032	D	0.01	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	595;595;595	Q96L93-2;Q96L93-6;Q96L93	.;.;KI16B_HUMAN	R	595	ENSP00000347076:G595R;ENSP00000347995:G595R;ENSP00000384164:G595R	ENSP00000347076:G595R	G	-	1	0	KIF16B	16333459	1.000000	0.71417	0.991000	0.47740	0.719000	0.41307	6.915000	0.75770	2.788000	0.95919	0.650000	0.86243	GGA		0.473	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	Missense_Mutation	4	25	0	0	0	1	0	4	25				
NUP133	55746	broad.mit.edu	37	1	229596379	229596379	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229596379A>G	ENST00000261396.3	-	20	2914	c.2823T>C	c.(2821-2823)atT>atC	p.I941I	NUP133_ENST00000537506.1_Silent_p.I925I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	941					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGCTATTAATTTCATGTA	0.328																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(2821-2823)atT>atC		nucleoporin 133kDa							92.0	94.0	93.0					1																	229596379		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229596379A>G		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2823T>C	1.37:g.229596379A>G						NUP133_ENST00000537506.1_Silent_p.I925I|NUP133_ENST00000366679.1_Silent_p.I870I	p.I941I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			20	2914	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	941					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.2823T>C	CCDS1579.1																																																																																				0.328	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		4	75	0	0	0	1	0	4	75				
PRDM10	56980	broad.mit.edu	37	11	129788527	129788527	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129788527C>A	ENST00000360871.3	-	14	2352	c.2121G>T	c.(2119-2121)aaG>aaT	p.K707N	PRDM10_ENST00000528746.1_Missense_Mutation_p.K681N|PRDM10_ENST00000304538.6_Missense_Mutation_p.K621N|PRDM10_ENST00000358825.5_Missense_Mutation_p.K711N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K625N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K625N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	711					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCTTGAACGTCTTGGAGCGGC	0.567																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2131-2133)aaG>aaT		PR domain containing 10							260.0	239.0	246.0					11																	129788527		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129788527C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2121G>T	11.37:g.129788527C>A	ENSP00000354118:p.Lys707Asn					PRDM10_ENST00000304538.6_Missense_Mutation_p.K621N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K707N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K625N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K625N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K681N	p.K711N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	15	2364	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	711					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2133G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313938	0.81358	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11821	2.77;2.78;2.77;2.74;2.82;2.75;2.87	5.79	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	M	0.61703	1.905	0.58432	D	0.999991	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.991;0.996;0.991;0.996;0.991;0.996	T	0.01553	-1.1326	10	0.51188	T	0.08	-35.1938	5.5346	0.17003	0.0:0.7381:0.0:0.2619	.	621;707;711;625;621;625	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	N	711;621;707;625;681;625;424	ENSP00000351686:K711N;ENSP00000302669:K621N;ENSP00000354118:K707N;ENSP00000398431:K625N;ENSP00000431262:K681N;ENSP00000432237:K625N;ENSP00000435940:K424N	ENSP00000302669:K621N	K	-	3	2	PRDM10	129293737	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.874000	0.39568	2.733000	0.93635	0.655000	0.94253	AAG		0.567	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	232	1	0	2.74318e-10	1	3.37541e-10	7	232				
ATAD5	79915	broad.mit.edu	37	17	29162553	29162553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29162553C>T	ENST00000321990.4	+	2	1832	c.1454C>T	c.(1453-1455)aCa>aTa	p.T485I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	485					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATAAGAAAACATTAGATACT	0.308																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(1453-1455)aCa>aTa		ATPase family, AAA domain containing 5							46.0	54.0	51.0					17																	29162553		2202	4296	6498	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162553C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1454C>T	17.37:g.29162553C>T	ENSP00000313171:p.Thr485Ile					CTD-2349P21.11_ENST00000580873.1_RNA	p.T485I	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	1832	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	485					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1454C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	1.391	-0.580762	0.03854	.	.	ENSG00000176208	ENST00000321990	T	0.07216	3.21	5.96	-1.85	0.07784	.	0.890738	0.10254	N	0.696832	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.42982	-0.9419	10	0.30078	T	0.28	.	2.5868	0.04832	0.1174:0.3318:0.1167:0.4342	.	485;485	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	485	ENSP00000313171:T485I	ENSP00000313171:T485I	T	+	2	0	ATAD5	26186679	0.000000	0.05858	0.018000	0.16275	0.368000	0.29767	-0.587000	0.05780	-0.157000	0.11059	-0.136000	0.14681	ACA		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		16	39	0	0	0	1	0	16	39				
DSCAM	1826	broad.mit.edu	37	21	41465683	41465683	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41465683C>A	ENST00000400454.1	-	21	4292	c.3815G>T	c.(3814-3816)aGc>aTc	p.S1272I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1272	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTCACTGCTGTTGCCTCT	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3814-3816)aGc>aTc		Down syndrome cell adhesion molecule							61.0	60.0	60.0					21																	41465683		1956	4155	6111	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41465683C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3815G>T	21.37:g.41465683C>A	ENSP00000383303:p.Ser1272Ile						p.S1272I	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			21	4292	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1272			Fibronectin type-III 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3815G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744397	0.30865	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.53640	0.61;0.61	5.2	5.2	0.72013	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.156844	0.64402	D	0.000019	T	0.41166	0.1147	L	0.38838	1.175	0.33982	D	0.64812	P	0.40731	0.728	B	0.40410	0.328	T	0.58858	-0.7562	10	0.52906	T	0.07	.	13.6772	0.62460	0.1545:0.8455:0.0:0.0	.	1272	O60469	DSCAM_HUMAN	I	1272;1024	ENSP00000383303:S1272I;ENSP00000385342:S1024I	ENSP00000383303:S1272I	S	-	2	0	DSCAM	40387553	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	1.577000	0.36515	2.415000	0.81967	0.467000	0.42956	AGC		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		7	9	1	0	0.0293803	1	0.0301098	7	9				
GCSAML	148823	broad.mit.edu	37	1	247737603	247737603	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247737603A>G	ENST00000366488.4	+	5	431	c.327A>G	c.(325-327)gaA>gaG	p.E109E	GCSAML_ENST00000366489.1_Silent_p.E89E|GCSAML_ENST00000366491.2_Silent_p.E89E|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000463359.1_Silent_p.E77E|GCSAML_ENST00000527541.1_Silent_p.E77E|GCSAML_ENST00000527084.1_Silent_p.E77E|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Silent_p.E89E	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	109																	CAGAGACAGAATATGCCCTTC	0.443																																						ENST00000366491.2																			0											c.(265-267)gaA>gaG		germinal center-associated, signaling and motility-like							152.0	127.0	135.0					1																	247737603		2203	4300	6503	SO:0001819	synonymous_variant	148823							g.chr1:247737603A>G	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.327A>G	1.37:g.247737603A>G						GCSAML_ENST00000527541.1_Silent_p.E77E|GCSAML_ENST00000463359.1_Silent_p.E77E|GCSAML_ENST00000366488.4_Silent_p.E109E|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Silent_p.E89E|GCSAML_ENST00000527084.1_Silent_p.E77E|GCSAML_ENST00000366489.1_Silent_p.E89E	p.E89E							7	764	+								B2R4Y5|B3KX46|Q5JQT3	Silent	SNP	ENST00000366488.4	37	c.267A>G	CCDS1635.1																																																																																				0.443	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		7	79	0	0	0	1	0	7	79				
GSTA1	2938	broad.mit.edu	37	6	52657702	52657702	+	Silent	SNP	G	G	A	rs377120723		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52657702G>A	ENST00000334575.5	-	6	653	c.498C>T	c.(496-498)taC>taT	p.Y166Y	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	166	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GCTCCTCGACGTAGTAGAGAA	0.527																																						ENST00000334575.5																			0				large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(496-498)taC>taT		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	G		0,4406		0,0,2203	173.0	156.0	162.0		498	-4.6	0.0	6		162	1,8599		0,1,4299	no	coding-synonymous	GSTA1	NM_145740.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		166/223	52657702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52657702G>A		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.498C>T	6.37:g.52657702G>A						GSTA1_ENST00000493331.1_5'UTR	p.Y166Y	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN			6	653	-	Lung NSC(77;0.118)		166			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Silent	SNP	ENST00000334575.5	37	c.498C>T	CCDS4945.1																																																																																				0.527	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			44	70	0	0	0	1	0	44	70				
ARID5A	10865	broad.mit.edu	37	2	97217973	97217973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97217973G>A	ENST00000357485.3	+	7	1786	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T	ARID5A_ENST00000454558.2_Missense_Mutation_p.A502T	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	570					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTTGCCCGGCCTCATCTGC	0.637																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(1504-1506)Gcc>Acc		AT rich interactive domain 5A (MRF1-like)							85.0	77.0	80.0					2																	97217973		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217973G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1708G>A	2.37:g.97217973G>A	ENSP00000350078:p.Ala570Thr					ARID5A_ENST00000357485.3_Missense_Mutation_p.A570T	p.A502T			Q03989	ARI5A_HUMAN			7	2681	+			570					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.1504G>A	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253827	0.59212	.	.	ENSG00000196843	ENST00000357485;ENST00000454558	T	0.63580	-0.05	4.65	3.76	0.43208	.	0.411519	0.20883	N	0.083978	T	0.51941	0.1704	L	0.50919	1.6	0.20307	N	0.999917	P;P	0.43094	0.799;0.799	B;B	0.37650	0.255;0.255	T	0.50189	-0.8857	10	0.52906	T	0.07	.	8.7218	0.34445	0.1043:0.0:0.8957:0.0	.	502;570	C9J1Q0;Q03989	.;ARI5A_HUMAN	T	570;502	ENSP00000350078:A570T	ENSP00000350078:A570T	A	+	1	0	ARID5A	96581700	0.048000	0.20356	0.050000	0.19076	0.791000	0.44710	1.502000	0.35704	1.301000	0.44836	0.555000	0.69702	GCC		0.637	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		24	37	0	0	0	1	0	24	37				
ADCY9	115	broad.mit.edu	37	16	4163952	4163952	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4163952C>T	ENST00000294016.3	-	2	2030	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	498	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCAGGATGCCGCAAAGGACG	0.562																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1492-1494)Ggc>Agc		adenylate cyclase 9							123.0	127.0	125.0					16																	4163952		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4163952C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1492G>A	16.37:g.4163952C>T	ENSP00000294016:p.Gly498Ser						p.G498S	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	2030	-			498			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1492G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924464	0.73213	.	.	ENSG00000162104	ENST00000294016	D	0.89746	-2.56	5.28	5.28	0.74379	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98229	1.0482	10	0.87932	D	0	.	18.9505	0.92640	0.0:1.0:0.0:0.0	.	498	O60503	ADCY9_HUMAN	S	498	ENSP00000294016:G498S	ENSP00000294016:G498S	G	-	1	0	ADCY9	4103953	1.000000	0.71417	0.997000	0.53966	0.481000	0.33189	7.814000	0.86154	2.481000	0.83766	0.555000	0.69702	GGC		0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			53	84	0	0	0	1	0	53	84				
AGBL2	79841	broad.mit.edu	37	11	47707455	47707455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47707455G>A	ENST00000525123.1	-	11	2063	c.1778C>T	c.(1777-1779)gCa>gTa	p.A593V	AGBL2_ENST00000528244.1_Missense_Mutation_p.A555V|AGBL2_ENST00000357610.3_Missense_Mutation_p.A593V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.A593V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	593						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CTTATCTGGTGCATTTTTGCA	0.358																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1777-1779)gCa>gTa		ATP/GTP binding protein-like 2							222.0	211.0	215.0					11																	47707455		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47707455G>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1778C>T	11.37:g.47707455G>A	ENSP00000435582:p.Ala593Val					AGBL2_ENST00000528244.1_Missense_Mutation_p.A555V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.A593V|AGBL2_ENST00000298861.4_Missense_Mutation_p.A593V	p.A593V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			11	2063	-			593					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1778C>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806928	0.70797	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.06	2.16	0.27623	Peptidase M14, carboxypeptidase A (1);	0.100287	0.64402	N	0.000002	T	0.24586	0.0596	M	0.76838	2.35	0.37221	D	0.905255	P;P;P	0.45634	0.863;0.786;0.786	P;P;P	0.55222	0.614;0.665;0.771	T	0.04551	-1.0943	10	0.59425	D	0.04	-5.1713	9.2232	0.37390	0.2958:0.0:0.7042:0.0	.	555;555;593	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	V	593;593;593;555	ENSP00000435582:A593V;ENSP00000350228:A593V;ENSP00000298861:A593V;ENSP00000436630:A555V	ENSP00000298861:A593V	A	-	2	0	AGBL2	47664031	0.670000	0.27512	0.328000	0.25416	0.993000	0.82548	2.155000	0.42301	0.259000	0.21709	0.491000	0.48974	GCA		0.358	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		59	99	0	0	0	1	0	59	99				
CEBPZ	10153	broad.mit.edu	37	2	37450453	37450453	+	Missense_Mutation	SNP	G	G	A	rs201963398		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37450453G>A	ENST00000234170.5	-	3	1886	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	581					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCACCCGGCGCAACACAATG	0.418																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1741-1743)Cgc>Tgc		CCAAT/enhancer binding protein (C/EBP), zeta							90.0	90.0	90.0					2																	37450453		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37450453G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1741C>T	2.37:g.37450453G>A	ENSP00000234170:p.Arg581Cys						p.R581C	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			3	1886	-		all_hematologic(82;0.21)	581					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1741C>T	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757602	0.49468	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.22945	1.93	5.76	5.76	0.90799	Armadillo-type fold (1);CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.53121	-0.8483	10	0.87932	D	0	.	9.9539	0.41655	0.0708:0.0:0.7915:0.1377	.	581	Q03701	CEBPZ_HUMAN	C	581	ENSP00000234170:R581C	ENSP00000234170:R581C	R	-	1	0	CEBPZ	37303957	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.997000	0.57016	2.724000	0.93272	0.462000	0.41574	CGC		0.418	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		30	58	0	0	0	1	0	30	58				
DDC	1644	broad.mit.edu	37	7	50530983	50530983	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530983G>T	ENST00000444124.2	-	14	1589	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	DDC_ENST00000426377.1_Silent_p.A385A|DDC_ENST00000431062.1_Silent_p.A370A|DDC_ENST00000357936.5_Silent_p.A463A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	463					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TGTGTTCCCAGGCCCGCTGCA	0.577																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(1387-1389)gcC>gcA		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						87.0	73.0	78.0					7																	50530983		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50530983G>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1389C>A	7.37:g.50530983G>T						DDC_ENST00000426377.1_Silent_p.A385A|DDC_ENST00000431062.1_Silent_p.A370A|DDC_ENST00000357936.5_Silent_p.A463A	p.A463A	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			14	1589	-	Glioma(55;0.08)|all_neural(89;0.245)		463					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.1389C>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395166	0.04899	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.44	1.55	0.23275	.	.	.	.	.	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41360	-0.9513	4	.	.	.	-23.4765	4.964	0.14082	0.1982:0.0:0.5456:0.2562	.	.	.	.	H	344	.	.	P	-	2	0	DDC	50498477	1.000000	0.71417	0.994000	0.49952	0.138000	0.21146	1.434000	0.34958	0.649000	0.30751	-0.136000	0.14681	CCT		0.577	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			13	12	1	0	1.49906e-05	1	1.69169e-05	13	12				
AGBL5	60509	broad.mit.edu	37	2	27277665	27277665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27277665C>T	ENST00000360131.4	+	5	878	c.719C>T	c.(718-720)gCa>gTa	p.A240V	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.A240V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	240					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGTTTCGCAGGCAAGAGG	0.488																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(718-720)gCa>gTa		ATP/GTP binding protein-like 5							91.0	90.0	90.0					2																	27277665		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27277665C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.719C>T	2.37:g.27277665C>T	ENSP00000353249:p.Ala240Val					AGBL5_ENST00000323064.8_Missense_Mutation_p.A240V	p.A240V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			5	878	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		240					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.719C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513659	0.27123	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.11495	2.77;2.77	6.17	2.84	0.33178	Peptidase M14, carboxypeptidase A (1);	0.486110	0.25194	N	0.032427	T	0.07728	0.0194	N	0.25245	0.725	0.22280	N	0.999238	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.31166	-0.9953	10	0.30078	T	0.28	-15.028	11.932	0.52851	0.0:0.7645:0.0:0.2355	.	240;240;240	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	V	240	ENSP00000323681:A240V;ENSP00000353249:A240V	ENSP00000323681:A240V	A	+	2	0	AGBL5	27131169	0.007000	0.16637	0.995000	0.50966	0.669000	0.39330	2.310000	0.43708	0.386000	0.24997	-0.150000	0.13652	GCA		0.488	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		11	86	0	0	0	1	0	11	86				
GSDMA	284110	broad.mit.edu	37	17	38133298	38133298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133298C>T	ENST00000301659.4	+	12	1443	c.1325C>T	c.(1324-1326)aCc>aTc	p.T442I		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	442					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CAGCAGCTTACCAAGGCCTCC	0.542																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1324-1326)aCc>aTc		gasdermin A							106.0	105.0	106.0					17																	38133298		1967	4170	6137	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133298C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1325C>T	17.37:g.38133298C>T	ENSP00000301659:p.Thr442Ile						p.T442I	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1443	+			442					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.1325C>T	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157647	0.38119	.	.	ENSG00000167914	ENST00000301659	T	0.28666	1.6	5.85	3.83	0.44106	.	0.404650	0.24836	N	0.035207	T	0.24314	0.0589	L	0.29908	0.895	0.23254	N	0.998038	B	0.29085	0.232	B	0.29440	0.102	T	0.16041	-1.0416	10	0.56958	D	0.05	-9.2605	12.9557	0.58425	0.0:0.6762:0.3238:0.0	.	442	Q96QA5	GSDMA_HUMAN	I	442	ENSP00000301659:T442I	ENSP00000301659:T442I	T	+	2	0	GSDMA	35386824	0.692000	0.27719	0.866000	0.34008	0.655000	0.38815	0.467000	0.22035	0.786000	0.33708	-0.264000	0.10439	ACC		0.542	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		36	46	0	0	0	1	0	36	46				
HEATR5B	54497	broad.mit.edu	37	2	37302635	37302635	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37302635A>G	ENST00000233099.5	-	5	685	c.590T>C	c.(589-591)gTg>gCg	p.V197A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V197A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	197						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACCTTGGCCACTGCACATCG	0.398																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(589-591)gTg>gCg		HEAT repeat containing 5B							150.0	142.0	145.0					2																	37302635		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37302635A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.590T>C	2.37:g.37302635A>G	ENSP00000233099:p.Val197Ala					HEATR5B_ENST00000354531.2_Missense_Mutation_p.V197A	p.V197A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			5	685	-		all_hematologic(82;0.21)	197					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.590T>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	4.228	0.041157	0.08196	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.49139	0.79;0.79	4.86	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.122857	0.53938	D	0.000042	T	0.10895	0.0266	N	0.00138	-2.015	0.42767	D	0.993825	B	0.06786	0.001	B	0.01281	0.0	T	0.35201	-0.9798	10	0.02654	T	1	-18.5204	9.3425	0.38089	0.9191:0.0:0.0809:0.0	.	197	Q9P2D3	HTR5B_HUMAN	A	197	ENSP00000233099:V197A;ENSP00000346531:V197A	ENSP00000233099:V197A	V	-	2	0	HEATR5B	37156139	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.210000	0.65214	1.955000	0.56771	0.260000	0.18958	GTG		0.398	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		13	126	0	0	0	1	0	13	126				
KIAA0226	9711	broad.mit.edu	37	3	197430514	197430514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197430514G>T	ENST00000296343.5	-	5	474	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.L159M|KIAA0226_ENST00000273582.5_Missense_Mutation_p.L99M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.L159M	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	159	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTTAGCAGGAAGGCAGCA	0.562																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(295-297)Ctg>Atg		KIAA0226							36.0	38.0	37.0					3																	197430514		2060	4191	6251	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197430514G>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.475C>A	3.37:g.197430514G>T	ENSP00000296343:p.Leu159Met					KIAA0226_ENST00000296343.5_Missense_Mutation_p.L159M|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.L159M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.L159M	p.L99M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	5	840	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		159			RUN.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.295C>A	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.88|18.88	3.717102|3.717102	0.68844|0.68844	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000413360	T;T;T;T|.	0.22743|.	1.94;1.94;1.94;1.94|.	5.65|5.65	4.78|4.78	0.61160|0.61160	RUN (3);|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.63827|0.63827	0.2544|0.2544	M|M	0.68593|0.68593	2.085|2.085	0.40739|0.40739	D|D	0.982813|0.982813	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.64402|0.64402	-0.6416|-0.6416	10|5	0.87932|.	D|.	0|.	.|.	8.6922|8.6922	0.34273|0.34273	0.2252:0.0:0.7748:0.0|0.2252:0.0:0.7748:0.0	.|.	159;99;159|.	E9PEM3;Q92622-2;Q92622|.	.;.;RUBIC_HUMAN|.	M|H	99;159;159;159|137	ENSP00000273582:L99M;ENSP00000296343:L159M;ENSP00000374316:L159M;ENSP00000390962:L159M|.	ENSP00000273582:L99M|.	L|P	-|-	1|2	2|0	KIAA0226|KIAA0226	198914911|198914911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.174000|4.174000	0.58256|0.58256	1.389000|1.389000	0.46526|0.46526	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.562	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		3	20	1	0	1	1	1	3	20				
ASB12	142689	broad.mit.edu	37	X	63445176	63445176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63445176G>T	ENST00000396130.2	-	1	327	c.328C>A	c.(328-330)Ctg>Atg	p.L110M	ASB12_ENST00000362002.2_Missense_Mutation_p.L119M|MTMR8_ENST00000453546.1_Missense_Mutation_p.L494M			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	110					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.L119M(1)|p.L110M(1)|p.L494M(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ACACAGTCCAGATGGCCATGA	0.532																																						ENST00000453546.1																			5	Substitution - Missense(3)|Whole gene deletion(2)	p.0?(2)|p.L119M(1)|p.L110M(1)|p.L494M(1)	lung(3)|ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1480-1482)Ctg>Atg		myotubularin related protein 8							111.0	64.0	80.0					X																	63445176		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445176G>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.328C>A	X.37:g.63445176G>T	ENSP00000379435:p.Leu110Met					ASB12_ENST00000396130.2_Missense_Mutation_p.L110M|ASB12_ENST00000362002.2_Missense_Mutation_p.L119M	p.L494M			Q96EF0	MTMR8_HUMAN			10	1569	-			310			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1480C>A		.	.	.	.	.	.	.	.	.	.	G	15.13	2.742099	0.49151	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.68903	-0.36;-0.36;-0.36	4.0	2.2	0.27929	Ankyrin repeat-containing domain (4);	0.162224	0.43416	D	0.000565	T	0.72724	0.3496	M	0.64170	1.965	0.19775	N	0.999957	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.961	T	0.60601	-0.7231	10	0.66056	D	0.02	-0.8114	4.6524	0.12601	0.4612:0.0:0.5388:0.0	.	494;110	B4DQL0;Q8WXK4	.;ASB12_HUMAN	M	119;110;119;494	ENSP00000355195:L119M;ENSP00000379435:L110M;ENSP00000394003:L494M	ENSP00000354626:L119M	L	-	1	2	ASB12;MTMR8	63361901	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.823000	0.39062	0.829000	0.34733	0.468000	0.43344	CTG		0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				11	7	1	0	4.68919e-08	1	5.58064e-08	11	7				
LMO7	4008	broad.mit.edu	37	13	76409325	76409325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76409325G>A	ENST00000526202.1	+	13	2195	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	LMO7_ENST00000377534.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000321797.8_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1127					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CATTTATACGGCATAAAACCC	0.388																																						ENST00000526202.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2113-2115)cgG>cgA		LIM domain 7							55.0	55.0	55.0					13																	76409325		2203	4300	6503	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76409325G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000526202.1:c.2115G>A	13.37:g.76409325G>A						LMO7_ENST00000377534.3_Intron|LMO7_ENST00000321797.8_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000357063.3_Intron	p.R705R			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	13	2195	+		Breast(118;0.0992)	1127					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000526202.1	37	c.2115G>A		.	.	.	.	.	.	.	.	.	.	G	9.181	1.023537	0.19433	.	.	ENSG00000136153	ENST00000524651	.	.	.	5.51	3.75	0.43078	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49153	-0.8969	4	.	.	.	.	6.2811	0.21007	0.0684:0.2641:0.5452:0.1222	.	.	.	.	D	160	.	.	G	+	2	0	LMO7	75307326	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	2.446000	0.44908	0.762000	0.33152	0.591000	0.81541	GGC		0.388	LMO7-012	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000388627.2	NM_005358		12	22	0	0	0	1	0	12	22				
PEX13	5194	broad.mit.edu	37	2	61258831	61258831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258831G>T	ENST00000295030.5	+	2	408	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	124					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCAAGCTGAAGAAAGCAGCAG	0.448																																						ENST00000295030.4																			0				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(370-372)Gaa>Taa		peroxisomal biogenesis factor 13							147.0	140.0	142.0					2																	61258831		2203	4300	6503	SO:0001587	stop_gained	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61258831G>T	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.370G>T	2.37:g.61258831G>T	ENSP00000295030:p.Glu124*					PEX13_ENST00000472678.1_3'UTR	p.E124*	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		2	408	+			124					B2RCS1	Nonsense_Mutation	SNP	ENST00000295030.5	37	c.370G>T	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428729	0.83667	.	.	ENSG00000162928	ENST00000295030	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-22.0737	20.1649	0.98147	0.0:0.0:1.0:0.0	.	.	.	.	X	124	.	ENSP00000295030:E124X	E	+	1	0	PEX13	61112335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.656000	0.98514	2.753000	0.94483	0.655000	0.94253	GAA		0.448	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		8	99	1	0	1.12685e-05	1	1.27857e-05	8	99				
OR1M1	125963	broad.mit.edu	37	19	9204457	9204457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204457C>T	ENST00000429566.3	+	1	603	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTACTTCTGCGACCTCACTC	0.562																																						ENST00000429566.3																			1	Substitution - coding silent(1)	p.C179C(1)	endometrium(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(535-537)tgC>tgT		olfactory receptor, family 1, subfamily M, member 1							140.0	113.0	122.0					19																	9204457		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204457C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.537C>T	19.37:g.9204457C>T							p.C179C	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	603	+			179					B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.537C>T	CCDS32896.1																																																																																				0.562	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			31	53	0	0	0	1	0	31	53				
ACOX1	51	broad.mit.edu	37	17	73951967	73951967	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951967A>G	ENST00000301608.4	-	5	660	c.600T>C	c.(598-600)taT>taC	p.Y200Y	ACOX1_ENST00000537812.1_Silent_p.Y162Y|ACOX1_ENST00000293217.5_Silent_p.Y200Y|ACOX1_ENST00000591857.1_5'UTR	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	200				Y -> H (in Ref. 2; AAA18595). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CATGTAATCCATAGCATTTCC	0.423																																						ENST00000537812.1																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(484-486)taT>taC		acyl-CoA oxidase 1, palmitoyl							189.0	175.0	180.0					17																	73951967		2203	4300	6503	SO:0001819	synonymous_variant	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73951967A>G	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.600T>C	17.37:g.73951967A>G						ACOX1_ENST00000301608.4_Silent_p.Y200Y|ACOX1_ENST00000293217.5_Silent_p.Y200Y|ACOX1_ENST00000591857.1_5'UTR	p.Y162Y	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			5	1134	-			200					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.486T>C	CCDS11735.1																																																																																				0.423	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			18	208	0	0	0	1	0	18	208				
FREM1	158326	broad.mit.edu	37	9	14770771	14770771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14770771T>C	ENST00000380880.3	-	26	5674	c.4891A>G	c.(4891-4893)Aca>Gca	p.T1631A	FREM1_ENST00000422223.2_Missense_Mutation_p.T1631A|FREM1_ENST00000380881.4_Missense_Mutation_p.T1632A|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380894.1_Missense_Mutation_p.T167A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1631					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCAAGAGTGTGATACGAGGA	0.493																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4894-4896)Aca>Gca		FRAS1 related extracellular matrix 1							113.0	113.0	113.0					9																	14770771		1976	4166	6142	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14770771T>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4891A>G	9.37:g.14770771T>C	ENSP00000370262:p.Thr1631Ala					FREM1_ENST00000422223.2_Missense_Mutation_p.T1631A|FREM1_ENST00000380880.3_Missense_Mutation_p.T1631A|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380894.1_Missense_Mutation_p.T167A	p.T1632A			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	27	5709	-			1631					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4894A>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	3.572	-0.087401	0.07097	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.58	4.45	0.53987	.	0.179562	0.50627	D	0.000110	T	0.20088	0.0483	L	0.34521	1.04	0.27075	N	0.963229	B;B	0.17268	0.017;0.021	B;B	0.19148	0.024;0.012	T	0.10428	-1.0630	10	0.21014	T	0.42	-12.5011	7.3234	0.26540	0.0:0.2177:0.0:0.7823	.	1631;167	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	A	1632;1631;167;1631;44	ENSP00000370263:T1632A;ENSP00000412940:T1631A;ENSP00000370278:T167A;ENSP00000370262:T1631A	ENSP00000370262:T1631A	T	-	1	0	FREM1	14760771	0.829000	0.29322	0.976000	0.42696	0.153000	0.21895	0.636000	0.24644	2.121000	0.65114	0.528000	0.53228	ACA		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		11	16	0	0	0	1	0	11	16				
GAS2L3	283431	broad.mit.edu	37	12	101017457	101017457	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101017457A>C	ENST00000539410.1	+	9	1260	c.874A>C	c.(874-876)Att>Ctt	p.I292L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.I292L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.I188L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.I292L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	292					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAACAAAAAATTTTAGCATT	0.403																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(562-564)Att>Ctt		growth arrest-specific 2 like 3							77.0	80.0	79.0					12																	101017457		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017457A>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.874A>C	12.37:g.101017457A>C	ENSP00000439672:p.Ile292Leu					GAS2L3_ENST00000547754.1_Missense_Mutation_p.I292L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.I292L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.I292L	p.I188L			Q86XJ1	GA2L3_HUMAN			10	1516	+			292					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.562A>C	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426357	0.83667	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.24350	1.87;1.87;1.86;1.87	5.26	5.26	0.73747	Growth-arrest-specific protein 2 domain (2);	0.000000	0.64402	D	0.000006	T	0.45736	0.1357	M	0.69823	2.125	0.44966	D	0.997984	D	0.71674	0.998	D	0.63488	0.915	T	0.35943	-0.9768	10	0.17832	T	0.49	-19.6081	15.179	0.72938	1.0:0.0:0.0:0.0	.	292	Q86XJ1	GA2L3_HUMAN	L	292;292;188;292	ENSP00000266754:I292L;ENSP00000448955:I292L;ENSP00000442406:I188L;ENSP00000439672:I292L	ENSP00000266754:I292L	I	+	1	0	GAS2L3	99541588	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.886000	0.92447	2.000000	0.58554	0.533000	0.62120	ATT		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		4	70	0	0	0	1	0	4	70				
NCKAP1L	3071	broad.mit.edu	37	12	54917615	54917615	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54917615C>T	ENST00000293373.6	+	20	2110	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	NCKAP1L_ENST00000545638.2_Silent_p.D627D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	677					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTAGCATGGACAAGCTACACC	0.458																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2029-2031)gaC>gaT		NCK-associated protein 1-like							146.0	122.0	130.0					12																	54917615		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917615C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2031C>T	12.37:g.54917615C>T						NCKAP1L_ENST00000545638.2_Silent_p.D627D	p.D677D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			20	2110	+			677					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.2031C>T	CCDS31813.1																																																																																				0.458	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	64	0	0	0	1	0	6	64				
DIABLO	56616	broad.mit.edu	37	12	122693109	122693109	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122693109G>T	ENST00000443649.3	-	7	1356	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	DIABLO_ENST00000464942.2_Missense_Mutation_p.S127Y|DIABLO_ENST00000353548.6_Missense_Mutation_p.S136Y|DIABLO_ENST00000267169.6_Missense_Mutation_p.S127Y|B3GNT4_ENST00000546192.1_3'UTR|B3GNT4_ENST00000545141.1_3'UTR|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000413918.1_Missense_Mutation_p.S136Y	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	180					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCGGTTATAGAGGCCTGATC	0.582																																						ENST00000464942.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(379-381)tCt>tAt		diablo, IAP-binding mitochondrial protein							57.0	49.0	52.0					12																	122693109		2203	4300	6503	SO:0001583	missense	56616				activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	g.chr12:122693109G>T	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.539C>A	12.37:g.122693109G>T	ENSP00000398495:p.Ser180Tyr					DIABLO_ENST00000353548.6_Missense_Mutation_p.S136Y|B3GNT4_ENST00000545141.1_3'UTR|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000443649.3_Missense_Mutation_p.S180Y|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000267169.6_Missense_Mutation_p.S127Y|DIABLO_ENST00000413918.1_Missense_Mutation_p.S136Y	p.S127Y	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	5	1773	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		180					B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Missense_Mutation	SNP	ENST00000443649.3	37	c.380C>A	CCDS9228.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927533	0.73327	.	.	ENSG00000184047	ENST00000413918;ENST00000443649;ENST00000353548;ENST00000464942;ENST00000267169;ENST00000541273;ENST00000474004;ENST00000540535;ENST00000541656	T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.32;-1.32	5.77	4.87	0.63330	Smac/DIABLO-like (1);	0.231158	0.45867	D	0.000325	D	0.89663	0.6780	M	0.78049	2.395	0.47621	D	0.999476	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91118	0.4927	10	0.87932	D	0	-4.246	16.3054	0.82846	0.0:0.1429:0.8571:0.0	.	136;180;127	Q6W3F3;Q9NR28;Q502X2	.;DBLOH_HUMAN;.	Y	136;180;136;127;127;83;107;107;107	ENSP00000411638:S136Y;ENSP00000398495:S180Y;ENSP00000320343:S136Y;ENSP00000442360:S127Y;ENSP00000267169:S127Y;ENSP00000440971:S83Y;ENSP00000442669:S107Y;ENSP00000441139:S107Y;ENSP00000440653:S107Y	ENSP00000267169:S127Y	S	-	2	0	DIABLO	121259062	1.000000	0.71417	0.878000	0.34440	0.962000	0.63368	5.079000	0.64431	1.417000	0.47077	-0.219000	0.12488	TCT		0.582	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	NM_019887		11	14	1	0	1.61879e-10	1	1.99744e-10	11	14				
RGL3	57139	broad.mit.edu	37	19	11505135	11505135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11505135G>T	ENST00000380456.3	-	19	2139	c.2076C>A	c.(2074-2076)gaC>gaA	p.D692E	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.D698E	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	692	Interaction with HRAS, MRAS and RIT1. {ECO:0000250}.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCAGCATGAAGTCTCTGGGGG	0.572																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(2074-2076)gaC>gaA		ral guanine nucleotide dissociation stimulator-like 3							90.0	81.0	84.0					19																	11505135		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11505135G>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.2076C>A	19.37:g.11505135G>T	ENSP00000369823:p.Asp692Glu					RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.D698E	p.D692E	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			19	2139	-			692			Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.2076C>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124426	0.37533	.	.	ENSG00000205517	ENST00000393423;ENST00000380456	T;T	0.49139	0.79;0.79	5.03	2.84	0.33178	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.60455	1.87	0.40285	D	0.978449	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.987	T	0.62647	-0.6810	10	0.87932	D	0	.	8.112	0.30920	0.1902:0.0:0.8098:0.0	.	692;698	Q3MIN7;B5ME84	RGL3_HUMAN;.	E	698;692	ENSP00000377075:D698E;ENSP00000369823:D692E	ENSP00000369823:D692E	D	-	3	2	RGL3	11366135	1.000000	0.71417	0.992000	0.48379	0.234000	0.25298	3.238000	0.51352	1.347000	0.45714	-0.244000	0.11960	GAC		0.572	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		13	30	1	0	1.37285e-15	1	1.76283e-15	13	30				
PYGB	5834	broad.mit.edu	37	20	25228967	25228967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25228967C>T	ENST00000216962.4	+	1	263	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	51					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CGCCCCGCGACTACTTCTTCG	0.682																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(151-153)gaC>gaT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						51.0	38.0	42.0					20																	25228967		2202	4300	6502	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25228967C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.153C>T	20.37:g.25228967C>T							p.D51D	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			1	263	+			51					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.153C>T	CCDS13171.1																																																																																				0.682	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		7	5	0	0	0	1	0	7	5				
USP19	10869	broad.mit.edu	37	3	49155466	49155466	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49155466A>G	ENST00000398888.2	-	3	530	c.212T>C	c.(211-213)aTc>aCc	p.I71T	USP19_ENST00000453664.1_Missense_Mutation_p.I71T|USP19_ENST00000434032.2_Missense_Mutation_p.I71T|USP19_ENST00000398898.2_Intron|USP19_ENST00000398896.1_5'Flank|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.I71T|USP19_ENST00000398892.3_Intron	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	71					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		tgagcctgtgatcccagctgc	0.537																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(211-213)aTc>aCc		ubiquitin specific peptidase 19							47.0	48.0	48.0					3																	49155466		1986	4160	6146	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49155466A>G	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.212T>C	3.37:g.49155466A>G	ENSP00000381863:p.Ile71Thr					USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398892.3_Intron|USP19_ENST00000417901.1_Missense_Mutation_p.I71T|USP19_ENST00000398888.2_Missense_Mutation_p.I71T|USP19_ENST00000434032.2_Missense_Mutation_p.I71T|USP19_ENST00000398898.2_Intron	p.I71T	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	530	-			71					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.212T>C	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	A	3.932	-0.016011	0.07681	.	.	ENSG00000172046	ENST00000417901;ENST00000453664;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	0.728	0.728	0.18260	.	3.186430	0.02716	U	0.113494	T	0.04724	0.0128	L	0.38953	1.18	0.09310	N	1	B;B;B;B;B	0.12630	0.0;0.0;0.0;0.001;0.006	B;B;B;B;B	0.14023	0.0;0.0;0.0;0.002;0.01	T	0.43877	-0.9364	9	0.08599	T	0.76	.	.	.	.	.	134;71;71;71;71	A5PKX8;E9PEG8;E7EN22;O94966;O94966-2	.;.;.;UBP19_HUMAN;.	T	71	ENSP00000395260:I71T;ENSP00000400090:I71T;ENSP00000381863:I71T;ENSP00000401197:I71T;ENSP00000303503:I71T	ENSP00000303503:I71T	I	-	2	0	USP19	49130470	0.165000	0.22948	0.045000	0.18777	0.067000	0.16453	1.017000	0.29989	0.545000	0.28902	0.377000	0.23210	ATC		0.537	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		10	25	0	0	0	1	0	10	25				
TIAM2	26230	broad.mit.edu	37	6	155154476	155154476	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155154476G>A	ENST00000461783.3	+	0	646				SCAF8_ENST00000367178.3_Missense_Mutation_p.A1255T|SCAF8_ENST00000367186.4_Missense_Mutation_p.A1321T|SCAF8_ENST00000417268.1_Missense_Mutation_p.A1255T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGACACAGTTGCTGATATAGA	0.383																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65								T-cell lymphoma invasion and metastasis 2							75.0	74.0	74.0					6																	155154476		2203	4300	6503			26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155154476G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880		6.37:g.155154476G>A						SCAF8_ENST00000367186.4_Missense_Mutation_p.A1321T|SCAF8_ENST00000367178.3_Missense_Mutation_p.A1255T|SCAF8_ENST00000417268.1_Missense_Mutation_p.A1255T				Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	0	646	+		Ovarian(120;0.196)						B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Translation_Start_Site	SNP	ENST00000461783.3	37		CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956385	0.34565	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.48201	0.86;0.86;0.82	5.3	5.3	0.74995	.	0.184388	0.36268	U	0.002689	T	0.18923	0.0454	N	0.17082	0.46	0.80722	D	1	B;B;B	0.32781	0.236;0.236;0.384	B;B;B	0.33196	0.056;0.056;0.159	T	0.08249	-1.0731	10	0.36615	T	0.2	.	12.3136	0.54942	0.0778:0.0:0.9222:0.0	.	1300;1321;1255	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	T	1255;1255;1321;216	ENSP00000356146:A1255T;ENSP00000413098:A1255T;ENSP00000356154:A1321T	ENSP00000356146:A1255T	A	+	1	0	TIAM2;SCAF8	155196168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.356000	0.73046	2.464000	0.83262	0.655000	0.94253	GCT		0.383	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		17	31	0	0	0	1	0	17	31				
ZNF708	7562	broad.mit.edu	37	19	21477090	21477090	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21477090A>G	ENST00000356929.3	-	4	875	c.678T>C	c.(676-678)tgT>tgC	p.C226C		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CACATTCTTCACATTTGTAGG	0.348																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(676-678)tgT>tgC		zinc finger protein 708							40.0	43.0	42.0					19																	21477090		2187	4288	6475	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21477090A>G	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.678T>C	19.37:g.21477090A>G							p.C226C	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	875	-			226					Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.678T>C	CCDS32980.1																																																																																				0.348	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		11	14	0	0	0	1	0	11	14				
RANBP2	5903	broad.mit.edu	37	2	109382974	109382974	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109382974C>T	ENST00000283195.6	+	20	6105	c.5979C>T	c.(5977-5979)tcC>tcT	p.S1993S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1993					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1993S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAACACTTCCGGTGACTTTG	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	2	Substitution - coding silent(2)	p.S1993S(2)	large_intestine(2)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5977-5979)tcC>tcT		RAN binding protein 2																																				SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382974C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5979C>T	2.37:g.109382974C>T							p.S1993S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6105	+			1993					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.5979C>T	CCDS2079.1																																																																																				0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	329	0	0	0	1	0	7	329				
SLC2A13	114134	broad.mit.edu	37	12	40158579	40158579	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40158579T>C	ENST00000280871.4	-	8	1577	c.1527A>G	c.(1525-1527)gcA>gcG	p.A509A		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	509					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GGCCCAGAAGTGCAGTCCAGG	0.348										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1525-1527)gcA>gcG		solute carrier family 2 (facilitated glucose transporter), member 13							121.0	135.0	130.0					12																	40158579		2203	4300	6503	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158579T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1527A>G	12.37:g.40158579T>C		HNSCC(50;0.14)					p.A509A	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			8	1577	-		Lung NSC(34;0.105)|all_lung(34;0.123)	509					Q17S07	Silent	SNP	ENST00000280871.4	37	c.1527A>G	CCDS8736.2																																																																																				0.348	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			10	59	0	0	0	1	0	10	59				
ABL1	25	broad.mit.edu	37	9	133750263	133750263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133750263C>A	ENST00000318560.5	+	7	1475	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.A365V(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGAGATCTTGCTGCCCGAAAC	0.517			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		2	Substitution - Missense(1)|Unknown(1)	p.A365V(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)	breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1093-1095)gCt>gAt		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						139.0	127.0	131.0					9																	133750263		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133750263C>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1094C>A	9.37:g.133750263C>A	ENSP00000323315:p.Ala365Asp						p.A365D	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	7	1475	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	365			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1094C>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215836	0.95104	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.63255	-0.03;-0.03	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.107177	0.64402	D	0.000006	D	0.86814	0.6023	H	0.97390	3.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.91630	0.5318	10	0.87932	D	0	.	17.802	0.88590	0.0:1.0:0.0:0.0	.	365;402	P00519;Q59FK4	ABL1_HUMAN;.	D	180;384;365	ENSP00000361423:A384D;ENSP00000323315:A365D	ENSP00000323315:A365D	A	+	2	0	ABL1	132740084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.810000	0.86072	2.450000	0.82876	0.655000	0.94253	GCT		0.517	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		6	81	1	0	2.0095e-06	1	2.31757e-06	6	81				
PTPRU	10076	broad.mit.edu	37	1	29585240	29585240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29585240G>A	ENST00000345512.3	+	3	558	c.429G>A	c.(427-429)tgG>tgA	p.W143*	PTPRU_ENST00000323874.8_Nonsense_Mutation_p.W143*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.W143*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.W143*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.W143*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	143	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCGTCAGTGGCACCAGGCTG	0.642																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(427-429)tgG>tgA		protein tyrosine phosphatase, receptor type, U							53.0	52.0	53.0					1																	29585240		2203	4300	6503	SO:0001587	stop_gained	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585240G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.429G>A	1.37:g.29585240G>A	ENSP00000334941:p.Trp143*					PTPRU_ENST00000428026.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.W143*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.W143*|PTPRU_ENST00000345512.3_Nonsense_Mutation_p.W143*	p.W143*	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	3	558	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	143			MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	c.429G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	38	7.282389	0.98186	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	.	.	.	X	143	.	.	W	+	3	0	PTPRU	29457827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.699000	0.92147	0.591000	0.81541	TGG		0.642	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			30	35	0	0	0	1	0	30	35				
GTF3C1	2975	broad.mit.edu	37	16	27480831	27480831	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27480831C>A	ENST00000356183.4	-	32	4870	c.4855G>T	c.(4855-4857)Gag>Tag	p.E1619*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E1619*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1619	Asp/Glu-rich (acidic).				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AAGTCATCCTCTTCATCCTCG	0.577																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4855-4857)Gag>Tag		general transcription factor IIIC, polypeptide 1, alpha 220kDa							180.0	152.0	161.0					16																	27480831		2197	4300	6497	SO:0001587	stop_gained	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480831C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4855G>T	16.37:g.27480831C>A	ENSP00000348510:p.Glu1619*					GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E1619*	p.E1619*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			32	4870	-			1619			Asp/Glu-rich (acidic).		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Nonsense_Mutation	SNP	ENST00000356183.4	37	c.4855G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	41	9.131961	0.99077	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	.	.	.	4.7	4.7	0.59300	.	0.122249	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.3317	17.2696	0.87097	0.0:1.0:0.0:0.0	.	.	.	.	X	1619;1615	.	ENSP00000348510:E1619X	E	-	1	0	GTF3C1	27388332	1.000000	0.71417	0.983000	0.44433	0.213000	0.24496	7.281000	0.78621	2.162000	0.67917	0.491000	0.48974	GAG		0.577	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	75	1	0	1	1	1	4	75				
ATP11A	23250	broad.mit.edu	37	13	113514618	113514618	+	Silent	SNP	G	G	A	rs200313549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113514618G>A	ENST00000487903.1	+	24	2833	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	ATP11A_ENST00000283558.8_Silent_p.A915A|ATP11A_ENST00000375630.2_Silent_p.A915A|ATP11A_ENST00000375645.3_Silent_p.A915A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	915					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGACACCGCGTATCTGACCC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19948	0.0		0.0	False		,,,				2504	0.0					ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(2743-2745)gcG>gcA		ATPase, class VI, type 11A		G	,	1,4405	2.1+/-5.4	0,1,2202	233.0	201.0	211.0		2745,2745	-1.9	1.0	13		211	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	915/1135,915/1192	113514618	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113514618G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2745G>A	13.37:g.113514618G>A						ATP11A_ENST00000375630.2_Silent_p.A915A|ATP11A_ENST00000283558.8_Silent_p.A915A|ATP11A_ENST00000375645.3_Silent_p.A915A	p.A915A			P98196	AT11A_HUMAN			24	2833	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	915					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.2745G>A	CCDS32011.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.132	0.783325	0.16189	2.27E-4	1.16E-4	ENSG00000068650	ENST00000418678	.	.	.	5.33	-1.87	0.07737	.	.	.	.	.	T	0.41604	0.1166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	2.797	0.05404	0.4212:0.125:0.3527:0.1011	.	.	.	.	H	890	.	.	R	+	2	0	ATP11A	112562619	0.960000	0.32886	0.975000	0.42487	0.688000	0.40055	0.010000	0.13242	-0.517000	0.06461	-0.258000	0.10820	CGT		0.453	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		13	82	0	0	0	1	0	13	82				
SLC35G5	83650	broad.mit.edu	37	8	11189077	11189077	+	Silent	SNP	C	C	T	rs143735406		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11189077C>T	ENST00000382435.4	+	1	681	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	154	EamA 1.					integral component of membrane (GO:0016021)											GCCAGGGTCTCGGTGGCTACG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		21201	0.001		0.0	False		,,,				2504	0.0					ENST00000382435.4																			0											c.(460-462)ctC>ctT		solute carrier family 35, member G5		C		3,4403	6.2+/-15.9	0,3,2200	178.0	164.0	169.0		462	0.3	0.7	8	dbSNP_134	169	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC35G5	NM_054028.1		0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538		154/339	11189077	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11189077C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.462C>T	8.37:g.11189077C>T							p.L154L	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	681	+			154			DUF6 1.		A2RRL6	Silent	SNP	ENST00000382435.4	37	c.462C>T	CCDS5980.1																																																																																				0.587	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		73	105	0	0	0	1	0	73	105				
ADAMTS2	9509	broad.mit.edu	37	5	178559886	178559886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178559886C>T	ENST00000251582.7	-	14	2202	c.2101G>A	c.(2101-2103)Ggt>Agt	p.G701S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	701	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGATCACACCGTCACAGCCC	0.582																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2101-2103)Ggt>Agt		ADAM metallopeptidase with thrombospondin type 1 motif, 2							140.0	87.0	105.0					5																	178559886		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178559886C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2101G>A	5.37:g.178559886C>T	ENSP00000251582:p.Gly701Ser						p.G701S	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	14	2202	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	701			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2101G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752050	0.31046	.	.	ENSG00000087116	ENST00000251582	T	0.69040	-0.37	5.38	4.45	0.53987	.	0.113706	0.37095	N	0.002253	T	0.57989	0.2091	M	0.77616	2.38	0.44652	D	0.997634	P	0.50066	0.931	B	0.36504	0.226	T	0.62941	-0.6747	10	0.42905	T	0.14	.	4.8136	0.13356	0.0:0.5399:0.284:0.1761	.	701	O95450	ATS2_HUMAN	S	701	ENSP00000251582:G701S	ENSP00000251582:G701S	G	-	1	0	ADAMTS2	178492492	0.014000	0.17966	0.773000	0.31616	0.165000	0.22458	0.799000	0.27028	2.683000	0.91414	0.313000	0.20887	GGT		0.582	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	12	0	0	0	1	0	6	12				
GGT7	2686	broad.mit.edu	37	20	33449298	33449298	+	Missense_Mutation	SNP	C	C	T	rs540100939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33449298C>T	ENST00000336431.5	-	4	669	c.625G>A	c.(625-627)Gca>Aca	p.A209T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	209					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCCCTGGTGCGGACTCCCGG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		16904	0.001		0.0	False		,,,				2504	0.0					ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(625-627)Gca>Aca		gamma-glutamyltransferase 7							57.0	57.0	57.0					20																	33449298		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33449298C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.625G>A	20.37:g.33449298C>T	ENSP00000338964:p.Ala209Thr						p.A209T	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			4	669	-			209					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.625G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	36	5.773820	0.96922	.	.	ENSG00000131067	ENST00000336431	T	0.13778	2.56	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	0.975;1.0;0.991	P;D;P	0.91635	0.72;0.999;0.879	T	0.51301	-0.8723	10	0.87932	D	0	-20.5001	19.926	0.97102	0.0:1.0:0.0:0.0	.	209;209;209	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	T	209	ENSP00000338964:A209T	ENSP00000338964:A209T	A	-	1	0	GGT7	32912959	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.194000	0.65125	2.707000	0.92482	0.655000	0.94253	GCA		0.562	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		17	27	0	0	0	1	0	17	27				
TMEM246	84302	broad.mit.edu	37	9	104239238	104239238	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104239238A>G	ENST00000374851.1	-	4	1284	c.137T>C	c.(136-138)cTt>cCt	p.L46P	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.L46P|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.L46P|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	46						integral component of membrane (GO:0016021)											AGAGTGTAGAAGTCGGTGACA	0.572																																						ENST00000374851.1																			0											c.(136-138)cTt>cCt		transmembrane protein 246							61.0	65.0	64.0					9																	104239238		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239238A>G	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.137T>C	9.37:g.104239238A>G	ENSP00000363984:p.Leu46Pro					RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.L46P|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.L46P	p.L46P			Q9BRR3	CI125_HUMAN			4	1284	-			46					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.137T>C	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	a	19.71	3.877968	0.72294	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.73583	0.3605	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.75451	-0.3313	9	0.59425	D	0.04	-16.1411	15.0393	0.71777	1.0:0.0:0.0:0.0	.	46	Q9BRR3	CI125_HUMAN	P	46	.	ENSP00000363980:L46P	L	-	2	0	C9orf125	103279059	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	6.963000	0.76055	2.130000	0.65690	0.524000	0.50904	CTT		0.572	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		7	50	0	0	0	1	0	7	50				
JAG2	3714	broad.mit.edu	37	14	105615643	105615643	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105615643A>G	ENST00000331782.3	-	13	2020	c.1617T>C	c.(1615-1617)ctT>ctC	p.L539L	JAG2_ENST00000347004.2_Silent_p.L501L|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	539	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGGCTCACAAAGGTCGACAT	0.622																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1615-1617)ctT>ctC		jagged 2							72.0	74.0	73.0					14																	105615643		2202	4300	6502	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105615643A>G	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1617T>C	14.37:g.105615643A>G						JAG2_ENST00000347004.2_Silent_p.L501L	p.L539L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	13	2020	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	539			EGF-like 9.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.1617T>C	CCDS9998.1																																																																																				0.622	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	79	0	0	0	1	0	6	79				
ZNF468	90333	broad.mit.edu	37	19	53345338	53345338	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53345338T>C	ENST00000595646.1	-	4	329	c.209A>G	c.(208-210)cAc>cGc	p.H70R	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.H17R|ZNF468_ENST00000396409.4_Missense_Mutation_p.H17R|ZNF468_ENST00000243639.4_Silent_p.P109P			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTCCCTGTGTGGATCACTTC	0.388																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(208-210)cAc>cGc		zinc finger protein 468							150.0	141.0	144.0					19																	53345338		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345338T>C	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.209A>G	19.37:g.53345338T>C	ENSP00000470381:p.His70Arg					ZNF468_ENST00000390651.4_Missense_Mutation_p.H17R|ZNF468_ENST00000396409.4_Missense_Mutation_p.H17R|ZNF468_ENST00000243639.4_Silent_p.P109P|ZNF28_ENST00000594602.1_Intron	p.H70R			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	329	-			70			KRAB.		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.209A>G	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	7.810	0.715528	0.15306	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06068	3.35;3.35	1.2	-1.95	0.07548	Krueppel-associated box (1);	.	.	.	.	T	0.04679	0.0127	L	0.40543	1.245	0.09310	N	1	B	0.21452	0.056	B	0.19666	0.026	T	0.47873	-0.9083	9	0.13470	T	0.59	.	5.9774	0.19389	0.2992:0.0:0.0:0.7008	.	70	Q5VIY5	ZN468_HUMAN	R	70;17;17	ENSP00000379690:H17R;ENSP00000445669:H17R	ENSP00000243639:H70R	H	-	2	0	ZNF468	58037150	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.217000	0.17603	-1.405000	0.02048	-1.571000	0.00872	CAC		0.388	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		10	138	0	0	0	1	0	10	138				
MAMLD1	10046	broad.mit.edu	37	X	149639226	149639226	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149639226G>A	ENST00000370401.2	+	4	1691	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	MAMLD1_ENST00000426613.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E461K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	461					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E461Q(1)|p.E436Q(1)|p.E388Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTATCGCCCAGAGAAGCTCTC	0.572																																						ENST00000370401.2																			3	Substitution - Missense(3)	p.E461Q(1)|p.E436Q(1)|p.E388Q(1)	lung(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1381-1383)Gag>Aag		mastermind-like domain containing 1							82.0	84.0	83.0					X																	149639226		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639226G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1381G>A	X.37:g.149639226G>A	ENSP00000359428:p.Glu461Lys					MAMLD1_ENST00000426613.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E461K	p.E461K			Q13495	MAMD1_HUMAN			4	1691	+	Acute lymphoblastic leukemia(192;6.56e-05)		461					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1381G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249618	0.59212	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.58	5.58	0.84498	.	0.073201	0.56097	D	0.000035	D	0.86209	0.5878	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	0.997;0.998;1.0;0.998	D;D;D;D	0.78314	0.957;0.991;0.984;0.991	D	0.86138	0.1579	9	.	.	.	-29.2678	18.66	0.91469	0.0:0.0:1.0:0.0	.	423;436;436;461	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	K	423;461;436;461;436	ENSP00000359428:E461K;ENSP00000414517:E436K;ENSP00000262858:E461K;ENSP00000397438:E436K	.	E	+	1	0	MAMLD1	149389884	1.000000	0.71417	0.933000	0.37362	0.079000	0.17450	5.718000	0.68455	2.351000	0.79841	0.600000	0.82982	GAG		0.572	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		31	80	0	0	0	1	0	31	80				
KIF2C	11004	broad.mit.edu	37	1	45227592	45227592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45227592C>T	ENST00000372224.4	+	17	1801	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V	KIF2C_ENST00000372217.1_Missense_Mutation_p.A509V|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.A522V|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A450V	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	563	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTGCAGATTGCCACGATCTCA	0.507																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(1525-1527)gCc>gTc		kinesin family member 2C							154.0	142.0	146.0					1																	45227592		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45227592C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1688C>T	1.37:g.45227592C>T	ENSP00000361298:p.Ala563Val					RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A450V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A522V|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372224.4_Missense_Mutation_p.A563V	p.A509V			Q99661	KIF2C_HUMAN			16	1877	+	Acute lymphoblastic leukemia(166;0.155)		563			Kinesin-motor.		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.1526C>T	CCDS512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.498611|5.498611	0.96355|0.96355	.|.	.|.	ENSG00000142945|ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217|ENST00000423289	T;T;T;T|.	0.74315|.	-0.83;-0.83;-0.83;-0.83|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Kinesin, motor domain (3);|.	0.099784|.	0.64402|.	D|.	0.000002|.	T|T	0.75686|0.75686	0.3883|0.3883	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D|.	0.58268|.	0.971;0.982;0.971|.	D;D;D|.	0.73708|.	0.981;0.968;0.981|.	T|T	0.73126|0.73126	-0.4081|-0.4081	10|5	0.87932|.	D|.	0|.	.|.	19.7926|19.7926	0.96466|0.96466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	522;509;563|.	B7Z6Q6;Q99661-2;Q99661|.	.;.;KIF2C_HUMAN|.	V|S	563;522;450;509|41	ENSP00000361298:A563V;ENSP00000361292:A522V;ENSP00000361296:A450V;ENSP00000361291:A509V|.	ENSP00000361291:A509V|.	A|P	+|+	2|1	0|0	KIF2C|KIF2C	45000179|45000179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.758000|7.758000	0.85224|0.85224	2.761000|2.761000	0.94854|0.94854	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.507	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		23	65	0	0	0	1	0	23	65				
N4BP2	55728	broad.mit.edu	37	4	40121734	40121734	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40121734T>C	ENST00000261435.6	+	9	2419	c.2003T>C	c.(2002-2004)aTg>aCg	p.M668T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	668					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGTGATATGAATCCTAGC	0.338																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2002-2004)aTg>aCg		NEDD4 binding protein 2							59.0	68.0	65.0					4																	40121734		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40121734T>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2003T>C	4.37:g.40121734T>C	ENSP00000261435:p.Met668Thr						p.M668T	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	2419	+			668					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2003T>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	T	4.187	0.033259	0.08101	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.16196	2.36	5.93	-4.96	0.03038	.	1.957270	0.01898	N	0.039001	T	0.08582	0.0213	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20075	-1.0286	10	0.36615	T	0.2	4.0081	0.8298	0.01128	0.2072:0.1854:0.3202:0.2872	.	668;668	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	T	668;588	ENSP00000261435:M668T	ENSP00000261435:M668T	M	+	2	0	N4BP2	39798129	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.194000	0.09559	-0.790000	0.04492	-0.389000	0.06534	ATG		0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	85	0	0	0	1	0	7	85				
VENTX	27287	broad.mit.edu	37	10	135053709	135053709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135053709G>A	ENST00000325980.9	+	3	1187	c.676G>A	c.(676-678)Gcg>Acg	p.A226T		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	226					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCAGCCTCTGGCGTCCCACCC	0.692																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(676-678)Gcg>Acg		VENT homeobox							10.0	12.0	11.0					10																	135053709		2167	4242	6409	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053709G>A	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.676G>A	10.37:g.135053709G>A	ENSP00000357556:p.Ala226Thr						p.A226T	NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	1187	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	226					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.676G>A	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	G	0.642	-0.812829	0.02798	.	.	ENSG00000151650	ENST00000325980	D	0.90620	-2.7	2.3	-3.17	0.05202	.	2.090010	0.03032	N	0.152181	T	0.79191	0.4404	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.67209	-0.5728	10	0.22706	T	0.39	.	7.9694	0.30119	0.3396:0.0:0.6604:0.0	.	226	O95231	VENTX_HUMAN	T	226	ENSP00000357556:A226T	ENSP00000357556:A226T	A	+	1	0	VENTX	134903699	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.206000	0.03011	-0.859000	0.04105	-0.417000	0.06048	GCG		0.692	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		7	9	0	0	0	1	0	7	9				
ARHGEF19	128272	broad.mit.edu	37	1	16535435	16535435	+	Missense_Mutation	SNP	C	C	T	rs201049497	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535435C>T	ENST00000270747.3	-	2	251	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	39					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCAGGGCGGGCAGCTCT	0.677																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(115-117)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 19							22.0	27.0	25.0					1																	16535435		2202	4300	6502	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16535435C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.115G>A	1.37:g.16535435C>T	ENSP00000270747:p.Ala39Thr					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.A39T	p.A39T	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	2	251	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	39					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.115G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.226620	0.00283	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.46451	0.87;0.87	4.16	-8.32	0.00996	.	2.308940	0.02096	N	0.053484	T	0.09905	0.0243	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24764	-1.0151	10	0.02654	T	1	.	0.7517	0.00991	0.2356:0.2664:0.12:0.378	.	39	Q8IW93	ARHGJ_HUMAN	T	39	ENSP00000270747:A39T;ENSP00000396001:A39T	ENSP00000270747:A39T	A	-	1	0	ARHGEF19	16408022	0.006000	0.16342	0.244000	0.24202	0.071000	0.16799	-2.298000	0.01140	-1.820000	0.01215	-2.720000	0.00132	GCC		0.677	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		5	17	0	0	0	1	0	5	17				
USP14	9097	broad.mit.edu	37	18	197620	197620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:197620C>T	ENST00000261601.7	+	8	690	c.599C>T	c.(598-600)gCt>gTt	p.A200V	USP14_ENST00000400266.3_Missense_Mutation_p.A189V|USP14_ENST00000383589.2_Missense_Mutation_p.A154V|USP14_ENST00000582707.1_Missense_Mutation_p.A165V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	200	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACAGGATGCTAATGAATGT	0.333																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(598-600)gCt>gTt		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							118.0	124.0	122.0					18																	197620		2203	4300	6503	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:197620C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.599C>T	18.37:g.197620C>T	ENSP00000261601:p.Ala200Val					USP14_ENST00000582707.1_Missense_Mutation_p.A165V|USP14_ENST00000383589.2_Missense_Mutation_p.A154V|USP14_ENST00000400266.3_Missense_Mutation_p.A189V	p.A200V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			8	690	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	200					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.599C>T	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404729	0.96051	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.40756	1.02;1.02	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047768	0.85682	D	0.000000	T	0.76877	0.4049	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83610	0.0133	10	0.87932	D	0	-19.0845	19.8765	0.96875	0.0:1.0:0.0:0.0	.	189;165;200	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	200;165;189	ENSP00000261601:A200V;ENSP00000383125:A189V	ENSP00000261601:A200V	A	+	2	0	USP14	187620	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.327000	0.79147	2.695000	0.91970	0.650000	0.86243	GCT		0.333	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		14	40	0	0	0	1	0	14	40				
NADK	65220	broad.mit.edu	37	1	1685602	1685602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1685602G>A	ENST00000341426.5	-	10	1210	c.989C>T	c.(988-990)gCg>gTg	p.A330V	NADK_ENST00000344463.4_Missense_Mutation_p.A475V|NADK_ENST00000342348.5_Missense_Mutation_p.A298V|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000341991.3_Missense_Mutation_p.A330V|NADK_ENST00000378625.1_Missense_Mutation_p.A475V	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	330	Poly-Ala.				ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCCCGGCCGCGGCCGCATA	0.716																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1423-1425)gCg>gTg		NAD kinase							36.0	45.0	42.0					1																	1685602		2203	4296	6499	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1685602G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.989C>T	1.37:g.1685602G>A	ENSP00000341679:p.Ala330Val					NADK_ENST00000342348.5_Missense_Mutation_p.A298V|NADK_ENST00000341991.3_Missense_Mutation_p.A330V|NADK_ENST00000341426.5_Missense_Mutation_p.A330V|NADK_ENST00000378625.1_Missense_Mutation_p.A475V	p.A475V			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	12	1645	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	330					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.1424C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707052	0.68615	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.57	4.65	0.58169	ATP-NAD kinase, PpnK-type, all-beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	H	0.96633	3.855	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.996	D	0.85082	0.0946	10	0.87932	D	0	-26.7725	13.0429	0.58910	0.0786:0.0:0.9214:0.0	.	298;475;330	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	V	330;330;475;475;298	ENSP00000341679:A330V;ENSP00000344340:A330V;ENSP00000367890:A475V;ENSP00000340925:A475V;ENSP00000339727:A298V	ENSP00000341679:A330V	A	-	2	0	NADK	1675462	1.000000	0.71417	0.019000	0.16419	0.867000	0.49689	9.269000	0.95684	1.349000	0.45751	0.561000	0.74099	GCG		0.716	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		6	67	0	0	0	1	0	6	67				
CRKL	1399	broad.mit.edu	37	22	21304088	21304088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21304088G>A	ENST00000354336.3	+	3	1376	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	289	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCCCTTTACGCACGTCAAAA	0.478																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(865-867)acG>acA		v-crk avian sarcoma virus CT10 oncogene homolog-like							219.0	205.0	210.0					22																	21304088		2203	4300	6503	SO:0001819	synonymous_variant	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21304088G>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.867G>A	22.37:g.21304088G>A							p.T289T	NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		3	1376	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	289			SH3 2.		A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	37	c.867G>A	CCDS13785.1																																																																																				0.478	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		11	224	0	0	0	1	0	11	224				
CCDC62	84660	broad.mit.edu	37	12	123286229	123286229	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123286229C>A	ENST00000253079.6	+	9	1880	c.1536C>A	c.(1534-1536)gaC>gaA	p.D512E	CCDC62_ENST00000392441.4_Missense_Mutation_p.D512E|CCDC62_ENST00000392440.2_Missense_Mutation_p.D273E|CCDC62_ENST00000537566.1_Missense_Mutation_p.D273E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	512					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCATGTGTGACTCCAAGTGCT	0.473																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1534-1536)gaC>gaA		coiled-coil domain containing 62							91.0	92.0	92.0					12																	123286229		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123286229C>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1536C>A	12.37:g.123286229C>A	ENSP00000253079:p.Asp512Glu					CCDC62_ENST00000537566.1_Missense_Mutation_p.D273E|CCDC62_ENST00000392441.4_Missense_Mutation_p.D512E|CCDC62_ENST00000392440.2_Missense_Mutation_p.D273E	p.D512E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	9	1880	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		512					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.1536C>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	C	2.579	-0.297833	0.05532	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.53	-9.81	0.00487	.	0.360750	0.23690	N	0.045529	T	0.15565	0.0375	N	0.01410	-0.885	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.09377	0.003;0.004;0.001	T	0.37337	-0.9710	10	0.02654	T	1	-6.1388	9.9659	0.41723	0.1903:0.3288:0.4809:0.0	.	512;273;512	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	E	512;512;273;273	ENSP00000253079:D512E;ENSP00000376236:D512E;ENSP00000445045:D273E;ENSP00000376235:D273E	ENSP00000253079:D512E	D	+	3	2	CCDC62	121852182	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-3.773000	0.00370	-1.750000	0.01328	-0.467000	0.05162	GAC		0.473	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		35	71	1	0	4.11147e-13	1	5.20562e-13	35	71				
SNX15	29907	broad.mit.edu	37	11	64799950	64799950	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64799950C>T	ENST00000377244.3	+	3	313	c.183C>T	c.(181-183)gaC>gaT	p.D61D	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Silent_p.D61D	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	61	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCATGGAGACCTGGCCTACA	0.622																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(181-183)gaC>gaT		sorting nexin 15							85.0	74.0	78.0					11																	64799950		2201	4297	6498	SO:0001819	synonymous_variant	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64799950C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.183C>T	11.37:g.64799950C>T						SNX15_ENST00000301886.3_3'UTR	p.D61D	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN			3	313	+			61			PX.		E5KQS6|Q9NRS5	Silent	SNP	ENST00000377244.3	37	c.183C>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137980	0.56936	.	.	ENSG00000110025	ENST00000525648	.	.	.	5.34	4.42	0.53409	.	.	.	.	.	T	0.63581	0.2523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66436	-0.5924	5	0.87932	D	0	-14.4322	7.9566	0.30047	0.0:0.7519:0.1604:0.0877	.	.	.	.	I	20	.	ENSP00000436023:T20I	T	+	2	0	SNX15	64556526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.699000	0.47077	2.494000	0.84150	0.561000	0.74099	ACC		0.622	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			17	22	0	0	0	1	0	17	22				
KIAA1377	57562	broad.mit.edu	37	11	101834222	101834222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834222C>A	ENST00000263468.8	+	6	2726	c.2456C>A	c.(2455-2457)tCt>tAt	p.S819Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S620Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	819										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATACAAGTGTCTCAGTGTCAA	0.328																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(2455-2457)tCt>tAt		KIAA1377							65.0	66.0	66.0					11																	101834222		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101834222C>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2456C>A	11.37:g.101834222C>A	ENSP00000263468:p.Ser819Tyr					KIAA1377_ENST00000537689.1_Missense_Mutation_p.S620Y	p.S819Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2726	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	819					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.2456C>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.146995	0.21288	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.09445	2.98;2.98	5.63	2.7	0.31948	.	0.190868	0.37809	N	0.001926	T	0.21509	0.0518	M	0.67953	2.075	0.21325	N	0.999723	D	0.59767	0.986	P	0.57720	0.826	T	0.03910	-1.0993	10	0.62326	D	0.03	-8.0386	7.3332	0.26594	0.0:0.6755:0.1226:0.2019	.	819	Q9P2H0	K1377_HUMAN	Y	819;620	ENSP00000263468:S819Y;ENSP00000443184:S620Y	ENSP00000263468:S819Y	S	+	2	0	KIAA1377	101339432	0.034000	0.19679	0.616000	0.29078	0.157000	0.22087	1.026000	0.30103	0.398000	0.25338	0.655000	0.94253	TCT		0.328	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		9	61	1	0	2.17888e-05	1	2.45068e-05	9	61				
COL24A1	255631	broad.mit.edu	37	1	86210352	86210352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86210352C>A	ENST00000370571.2	-	57	5035	c.4669G>T	c.(4669-4671)Gat>Tat	p.D1557Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1557	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AACTTACCATCTGATACTTTT	0.363																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4669-4671)Gat>Tat		collagen, type XXIV, alpha 1							137.0	127.0	130.0					1																	86210352		1851	4090	5941	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210352C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4669G>T	1.37:g.86210352C>A	ENSP00000359603:p.Asp1557Tyr					COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536Y	p.D1557Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	5035	-			1557			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4669G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090473	0.55968	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.75821	-0.97;-0.97	5.29	4.36	0.52297	Fibrillar collagen, C-terminal (3);	0.000000	0.36167	N	0.002744	D	0.87881	0.6289	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.90265	0.4303	10	0.87932	D	0	.	14.8279	0.70128	0.0:0.9268:0.0:0.0732	.	1557;1536	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	Y	1557;1536	ENSP00000359603:D1557Y;ENSP00000392531:D1536Y	ENSP00000359603:D1557Y	D	-	1	0	COL24A1	85982940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.616000	0.61197	2.635000	0.89317	0.563000	0.77884	GAT		0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		11	124	1	0	0.0135373	1	0.0140872	11	124				
MICA	100507436	broad.mit.edu	37	6	31378368	31378368	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31378368C>A	ENST00000449934.2	+	2	173	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGGGATGGATCTGTGCAGTCA	0.532																																						ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(118-120)tCt>tAt		MHC class I polypeptide-related sequence A							14.0	15.0	15.0					6																	31378368		692	1589	2281	SO:0001583	missense	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31378368C>A	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.119C>A	6.37:g.31378368C>A	ENSP00000413079:p.Ser40Tyr					HCP5_ENST00000414046.2_RNA	p.S40Y	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			2	173	+		Ovarian(999;0.0253)	40						Missense_Mutation	SNP	ENST00000449934.2	37	c.119C>A	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	11.92	1.782032	0.31502	.	.	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.01665	4.7;4.7	2.89	-2.71	0.05986	.	0.838313	0.09810	N	0.752933	T	0.03053	0.0090	M	0.81497	2.545	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.18999	-1.0319	10	0.87932	D	0	.	6.8338	0.23925	0.0:0.3701:0.5064:0.1236	.	40	Q96QC4	.	Y	40;40;40;27	ENSP00000413079:S40Y;ENSP00000402410:S27Y	ENSP00000365394:S40Y	S	+	2	0	MICA	31486347	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.728000	0.04925	-0.415000	0.07484	0.306000	0.20318	TCT		0.532	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		12	18	1	0	9.31168e-06	1	1.06029e-05	12	18				
TMEM106B	54664	broad.mit.edu	37	7	12271476	12271476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12271476A>G	ENST00000396667.3	+	9	1022	c.700A>G	c.(700-702)Aca>Gca	p.T234A	TMEM106B_ENST00000396668.3_Missense_Mutation_p.T234A	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	234					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TACTGTGACAACAACATACTT	0.343																																						ENST00000396667.2																			0				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18						c.(700-702)Aca>Gca		transmembrane protein 106B							79.0	74.0	76.0					7																	12271476		2203	4300	6503	SO:0001583	missense	54664					integral to membrane		g.chr7:12271476A>G	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.700A>G	7.37:g.12271476A>G	ENSP00000379901:p.Thr234Ala					TMEM106B_ENST00000396668.3_Missense_Mutation_p.T234A	p.T234A	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	9	1022	+			234					A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.700A>G	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981846	0.34942	.	.	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.22743	1.94;1.94	5.44	5.44	0.79542	.	0.099573	0.64402	D	0.000002	T	0.19208	0.0461	L	0.39566	1.225	0.50632	D	0.99988	B	0.22746	0.074	B	0.23574	0.047	T	0.05131	-1.0904	10	0.16896	T	0.51	.	15.4806	0.75524	1.0:0.0:0.0:0.0	.	234	Q9NUM4	T106B_HUMAN	A	234	ENSP00000379902:T234A;ENSP00000379901:T234A	ENSP00000379901:T234A	T	+	1	0	TMEM106B	12238001	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.987000	0.63857	2.062000	0.61559	0.477000	0.44152	ACA		0.343	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		12	57	0	0	0	1	0	12	57				
PLXNA2	5362	broad.mit.edu	37	1	208252614	208252614	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208252614T>G	ENST00000367033.3	-	12	3334	c.2577A>C	c.(2575-2577)caA>caC	p.Q859H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	859	IPT/TIG 1.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTCGGTGATTTGAGGGTTGG	0.597																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2575-2577)caA>caC		plexin A2							58.0	58.0	58.0					1																	208252614		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208252614T>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2577A>C	1.37:g.208252614T>G	ENSP00000356000:p.Gln859His						p.Q859H	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	12	3334	-			859			IPT/TIG 1.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2577A>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.169607	0.57584	.	.	ENSG00000076356	ENST00000367033	T	0.76968	-1.06	5.8	-10.3	0.00346	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	0.053697	0.85682	D	0.000000	T	0.57873	0.2083	N	0.17631	0.505	0.30187	N	0.79985	P	0.40282	0.711	P	0.44359	0.447	T	0.64360	-0.6426	10	0.62326	D	0.03	.	8.8001	0.34903	0.073:0.5846:0.2004:0.1419	.	859	O75051	PLXA2_HUMAN	H	859	ENSP00000356000:Q859H	ENSP00000356000:Q859H	Q	-	3	2	PLXNA2	206319237	0.757000	0.28394	0.693000	0.30195	0.841000	0.47740	-0.279000	0.08479	-1.554000	0.01700	0.533000	0.62120	CAA		0.597	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	43	0	0	0	1	0	6	43				
CDKL4	344387	broad.mit.edu	37	2	39406359	39406359	+	Missense_Mutation	SNP	C	C	T	rs370476409		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39406359C>T	ENST00000395035.3	-	8	895	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CDKL4_ENST00000378803.1_Missense_Mutation_p.R299H			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	299						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCCTTCATTACGTGCTTTTCT	0.378																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(895-897)cGt>cAt		cyclin-dependent kinase-like 4							114.0	110.0	111.0					2																	39406359		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39406359C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.896G>A	2.37:g.39406359C>T	ENSP00000378476:p.Arg299His					CDKL4_ENST00000395035.3_Missense_Mutation_p.R299H	p.R299H	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			8	895	-		all_hematologic(82;0.248)	299					Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.896G>A		.	.	.	.	.	.	.	.	.	.	C	8.408	0.843516	0.16963	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.70869	0.34;-0.5;-0.52	5.67	4.8	0.61643	.	0.116625	0.39274	N	0.001409	T	0.52484	0.1737	N	0.14661	0.345	0.32565	N	0.530549	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.0	T	0.57894	-0.7732	10	0.41790	T	0.15	-7.9458	10.7392	0.46143	0.0:0.9123:0.0:0.0877	.	299;299	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	H	81;299;299	ENSP00000389833:R81H;ENSP00000368080:R299H;ENSP00000378476:R299H	ENSP00000368080:R299H	R	-	2	0	CDKL4	39259863	0.842000	0.29525	0.490000	0.27465	0.021000	0.10359	1.323000	0.33701	1.400000	0.46741	0.655000	0.94253	CGT		0.378	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		39	81	0	0	0	1	0	39	81				
PC	5091	broad.mit.edu	37	11	66617327	66617327	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66617327G>A	ENST00000393958.2	-	20	2995	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	PC_ENST00000529047.1_Silent_p.L88L|PC_ENST00000393955.2_Silent_p.L968L|PC_ENST00000528224.1_5'UTR|PC_ENST00000393960.1_Silent_p.L968L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	968					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGTCCTTCAGTACCTGGGGA	0.637																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2902-2904)Ctg>Ttg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						49.0	48.0	48.0					11																	66617327		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617327G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2902C>T	11.37:g.66617327G>A						PC_ENST00000393955.2_Silent_p.L968L|PC_ENST00000393958.2_Silent_p.L968L|PC_ENST00000529047.1_Silent_p.L88L|PC_ENST00000528224.1_5'UTR	p.L968L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	21	3183	-		Melanoma(852;0.0525)	968					B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.2902C>T	CCDS8152.1																																																																																				0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		4	63	0	0	0	1	0	4	63				
RIN2	54453	broad.mit.edu	37	20	19951529	19951529	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19951529C>T	ENST00000255006.6	+	7	880	c.731C>T	c.(730-732)gCc>gTc	p.A244V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	195					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTTCAACAGCCAAGTCGGAG	0.438																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(730-732)gCc>gTc		Ras and Rab interactor 2							74.0	76.0	75.0					20																	19951529		1933	4128	6061	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19951529C>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.731C>T	20.37:g.19951529C>T	ENSP00000255006:p.Ala244Val					RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	p.A244V	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			7	880	+			195					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.731C>T	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	35	5.568916	0.96540	.	.	ENSG00000132669	ENST00000255006	T	0.07216	3.21	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00114	-1.2041	9	.	.	.	-34.2775	19.3505	0.94381	0.0:1.0:0.0:0.0	.	195	Q8WYP3	RIN2_HUMAN	V	244	ENSP00000255006:A244V	.	A	+	2	0	RIN2	19899529	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.234000	0.78134	2.665000	0.90641	0.563000	0.77884	GCC		0.438	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			7	20	0	0	0	1	0	7	20				
SLC11A2	4891	broad.mit.edu	37	12	51390746	51390746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51390746C>T	ENST00000262051.7	-	9	772	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	SLC11A2_ENST00000546743.1_Missense_Mutation_p.V150M|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V229M|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V225M|SLC11A2_ENST00000394904.3_Missense_Mutation_p.V258M|SLC11A2_ENST00000262052.5_Missense_Mutation_p.V229M|SLC11A2_ENST00000547198.1_Missense_Mutation_p.V229M|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V258M	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	229					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTGGGTTTCACTGTAACATAC	0.483																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(772-774)Gtg>Atg		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							188.0	127.0	148.0					12																	51390746		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51390746C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.685G>A	12.37:g.51390746C>T	ENSP00000262051:p.Val229Met					SLC11A2_ENST00000262051.7_Missense_Mutation_p.V229M|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V258M|SLC11A2_ENST00000262052.5_Missense_Mutation_p.V229M|SLC11A2_ENST00000547198.1_Missense_Mutation_p.V229M|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V225M|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V229M|SLC11A2_ENST00000546743.1_Missense_Mutation_p.V150M	p.V258M	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			9	821	-			229					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.772G>A	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979296	0.74360	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743;ENST00000546488;ENST00000547579	T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.91406	3.205	0.80722	D	1	B;B;B;B;B;B	0.25521	0.025;0.02;0.05;0.02;0.007;0.128	B;B;B;B;B;B	0.35899	0.13;0.087;0.192;0.087;0.05;0.213	T	0.80390	-0.1402	10	0.49607	T	0.09	-17.9808	18.8085	0.92048	0.0:1.0:0.0:0.0	.	192;225;258;229;78;229	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	M	229;229;229;258;258;229;225;150;147;150	ENSP00000262051:V229M;ENSP00000446769:V229M;ENSP00000262052:V229M;ENSP00000378364:V258M;ENSP00000449200:V258M;ENSP00000444542:V229M;ENSP00000442810:V225M;ENSP00000446914:V150M;ENSP00000450389:V147M	ENSP00000262051:V229M	V	-	1	0	SLC11A2	49677013	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.492000	0.81482	2.734000	0.93682	0.655000	0.94253	GTG		0.483	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			4	38	0	0	0	1	0	4	38				
MUC16	94025	broad.mit.edu	37	19	9021062	9021062	+	Nonsense_Mutation	SNP	G	G	A	rs533303579		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9021062G>A	ENST00000397910.4	-	19	37464	c.37261C>T	c.(37261-37263)Cag>Tag	p.Q12421*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12423	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCAGACCCTGCAGGACCCTC	0.547																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37261-37263)Cag>Tag		mucin 16, cell surface associated							140.0	117.0	124.0					19																	9021062		1967	4143	6110	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9021062G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37261C>T	19.37:g.9021062G>A	ENSP00000381008:p.Gln12421*						p.Q12421*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			19	37464	-			12423			SEA 3.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.37261C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	61	57.158858	0.99989	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.09	0.638	0.17742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0342	0.30482	0.0:0.0:0.5672:0.4328	.	.	.	.	X	12421	.	ENSP00000381008:Q12421X	Q	-	1	0	MUC16	8882062	0.002000	0.14202	0.001000	0.08648	0.218000	0.24690	0.346000	0.19997	0.069000	0.16605	0.455000	0.32223	CAG		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	92	0	0	0	1	0	8	92				
EP400	57634	broad.mit.edu	37	12	132448119	132448119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132448119G>A	ENST00000333577.4	+	3	1487	c.1378G>A	c.(1378-1380)Gtt>Att	p.V460I	EP400_ENST00000389561.2_Intron|EP400_ENST00000332482.4_Intron|EP400_ENST00000330386.6_Intron|EP400_ENST00000389562.2_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	460					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGGACTCCCGTTGCTATAGC	0.423																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1378-1380)Gtt>Att		E1A binding protein p400							58.0	56.0	57.0					12																	132448119		876	1991	2867	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132448119G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1378G>A	12.37:g.132448119G>A	ENSP00000333602:p.Val460Ile					EP400_ENST00000332482.4_Intron|EP400_ENST00000389561.2_Intron|EP400_ENST00000389562.2_Intron|EP400_ENST00000330386.6_Intron	p.V460I			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	3	1487	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	460					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.1378G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.015344	0.93404	.	.	ENSG00000183495	ENST00000333577;ENST00000423130	D	0.91464	-2.85	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94840	0.8333	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92765	0.6227	9	0.27785	T	0.31	.	19.8463	0.96708	0.0:0.0:1.0:0.0	.	460	F8WCN8	.	I	460	ENSP00000333602:V460I	ENSP00000333602:V460I	V	+	1	0	EP400	131014072	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	7.619000	0.83057	2.688000	0.91661	0.655000	0.94253	GTT		0.423	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	19	0	0	0	1	0	10	19				
ADCY1	107	broad.mit.edu	37	7	45719377	45719377	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45719377C>T	ENST00000297323.7	+	11	1990	c.1968C>T	c.(1966-1968)caC>caT	p.H656H		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	656					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTACCTGCACATCACCCGGG	0.542																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1966-1968)caC>caT		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						253.0	189.0	211.0					7																	45719377		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45719377C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1968C>T	7.37:g.45719377C>T							p.H656H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			11	1990	+			656					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1968C>T	CCDS34631.1																																																																																				0.542	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		45	36	0	0	0	1	0	45	36				
CTCFL	140690	broad.mit.edu	37	20	56094301	56094301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56094301G>A	ENST00000608263.1	-	3	1548	c.887C>T	c.(886-888)aCg>aTg	p.T296M	CTCFL_ENST00000539382.1_Missense_Mutation_p.T91M|CTCFL_ENST00000608440.1_Missense_Mutation_p.T296M|CTCFL_ENST00000429804.3_Missense_Mutation_p.T296M|CTCFL_ENST00000371196.2_Missense_Mutation_p.T296M|CTCFL_ENST00000432255.2_Missense_Mutation_p.T296M|CTCFL_ENST00000608903.1_Missense_Mutation_p.T34M|CTCFL_ENST00000481655.2_Missense_Mutation_p.T296M|CTCFL_ENST00000243914.3_Missense_Mutation_p.T296M|CTCFL_ENST00000608158.1_Missense_Mutation_p.T296M|CTCFL_ENST00000608425.1_Missense_Mutation_p.T296M|CTCFL_ENST00000433949.3_Missense_Mutation_p.T91M|CTCFL_ENST00000609232.1_Missense_Mutation_p.T296M|CTCFL_ENST00000422869.2_Missense_Mutation_p.T296M|CTCFL_ENST00000502686.2_Missense_Mutation_p.T34M|CTCFL_ENST00000423479.3_Missense_Mutation_p.T296M|CTCFL_ENST00000608858.1_5'UTR	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	296					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGAGTGACCGTACGGAAGGT	0.453																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(886-888)aCg>aTg		CCCTC-binding factor (zinc finger protein)-like							108.0	106.0	107.0					20																	56094301		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094301G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.887C>T	20.37:g.56094301G>A	ENSP00000476783:p.Thr296Met					CTCFL_ENST00000429804.2_Missense_Mutation_p.T296M|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.T296M|CTCFL_ENST00000371196.2_Missense_Mutation_p.T296M|CTCFL_ENST00000422869.2_Missense_Mutation_p.T296M|CTCFL_ENST00000422109.2_Missense_Mutation_p.T296M|CTCFL_ENST00000243914.3_Missense_Mutation_p.T296M|CTCFL_ENST00000539382.1_Missense_Mutation_p.T91M|CTCFL_ENST00000502686.2_Missense_Mutation_p.T34M|CTCFL_ENST00000433949.2_Missense_Mutation_p.T296M|CTCFL_ENST00000432255.2_Missense_Mutation_p.T296M	p.T296M			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1548	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		296					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.887C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675555	0.47781	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.25	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149229	0.31031	N	0.008388	T	0.25865	0.0630	M	0.71581	2.175	0.40240	D	0.977944	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.991;0.997;0.96;0.984;0.991;0.992;0.984;0.984	T	0.04737	-1.0930	10	0.34782	T	0.22	-22.9951	14.4377	0.67293	0.0:0.2803:0.7197:0.0	.	296;296;296;296;296;296;296;296	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	M	296;296;296;296;296;34;296;296;296;91;296	ENSP00000415579:T296M;ENSP00000243914:T296M;ENSP00000360239:T296M;ENSP00000415329:T296M;ENSP00000392034:T296M;ENSP00000437999:T34M;ENSP00000413713:T296M;ENSP00000403369:T296M;ENSP00000409344:T296M;ENSP00000439998:T91M;ENSP00000399061:T296M	ENSP00000243914:T296M	T	-	2	0	CTCFL	55527707	1.000000	0.71417	0.023000	0.16930	0.033000	0.12548	6.250000	0.72435	1.324000	0.45282	0.591000	0.81541	ACG		0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		40	56	0	0	0	1	0	40	56				
CTC1	80169	broad.mit.edu	37	17	8141404	8141404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8141404C>T	ENST00000315684.8	-	4	599	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	198					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ATAGGCGTGACGGGGCCAGGA	0.587																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(592-594)Gtc>Atc		CTS telomere maintenance complex component 1							74.0	79.0	77.0					17																	8141404		1992	4171	6163	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141404C>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.592G>A	17.37:g.8141404C>T	ENSP00000313759:p.Val198Ile					CTC1_ENST00000581671.1_5'UTR	p.V198I	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			4	599	-			198					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.592G>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	1.336	-0.595340	0.03771	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82526	-1.62;-1.62	5.51	-1.46	0.08800	.	1.853410	0.02214	N	0.063434	T	0.68026	0.2956	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.14023	0.01	T	0.55036	-0.8203	10	0.18276	T	0.48	0.0543	12.1482	0.54036	0.0:0.6483:0.2023:0.1494	.	198	Q2NKJ3	CTC1_HUMAN	I	198	ENSP00000313759:V198I;ENSP00000396018:V198I	ENSP00000313759:V198I	V	-	1	0	CTC1	8082129	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.253000	0.18296	-0.306000	0.08818	-1.167000	0.01749	GTC		0.587	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		28	46	0	0	0	1	0	28	46				
WAC	51322	broad.mit.edu	37	10	28872387	28872387	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28872387T>C	ENST00000354911.4	+	4	495	c.334T>C	c.(334-336)Tca>Cca	p.S112P	WAC_ENST00000347934.4_Missense_Mutation_p.S112P|WAC_ENST00000375664.4_Missense_Mutation_p.S67P|WAC_ENST00000375646.1_Missense_Mutation_p.S67P|WAC_ENST00000428935.1_Missense_Mutation_p.S67P	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	112					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAGTTCAAATTCACATTCTTC	0.318																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(199-201)Tca>Cca		WW domain containing adaptor with coiled-coil							147.0	159.0	155.0					10																	28872387		2203	4298	6501	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28872387T>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.334T>C	10.37:g.28872387T>C	ENSP00000346986:p.Ser112Pro					WAC_ENST00000347934.4_Missense_Mutation_p.S112P|WAC_ENST00000375646.1_Missense_Mutation_p.S67P|WAC_ENST00000354911.4_Missense_Mutation_p.S112P|WAC_ENST00000428935.1_Missense_Mutation_p.S67P	p.S67P			Q9BTA9	WAC_HUMAN			4	808	+			112					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.199T>C	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431337	0.83776	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	T;T;T;T;T;T;T	0.52754	1.75;1.78;1.78;1.76;1.3;0.68;0.65	5.76	5.76	0.90799	.	0.060287	0.64402	D	0.000001	T	0.50086	0.1595	N	0.24115	0.695	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.99	P;P;P	0.57776	0.827;0.801;0.676	T	0.45527	-0.9255	10	0.31617	T	0.26	-14.8569	16.0817	0.81010	0.0:0.0:0.0:1.0	.	67;112;112	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	P	67;67;112;112;67;67;67;67;67;67	ENSP00000364816:S67P;ENSP00000364797:S67P;ENSP00000311106:S112P;ENSP00000346986:S112P;ENSP00000399706:S67P;ENSP00000404758:S67P;ENSP00000415645:S67P	ENSP00000311106:S112P	S	+	1	0	WAC	28912393	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.841000	0.86834	2.206000	0.71126	0.383000	0.25322	TCA		0.318	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		57	106	0	0	0	1	0	57	106				
SP4	6671	broad.mit.edu	37	7	21516748	21516748	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21516748C>A	ENST00000222584.3	+	4	1948	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	577					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACTATAGCTCCTGTAACTGTA	0.423																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1729-1731)cCt>cAt		Sp4 transcription factor							86.0	77.0	80.0					7																	21516748		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21516748C>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1730C>A	7.37:g.21516748C>A	ENSP00000222584:p.Pro577His						p.P577H	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			4	1948	+			577					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1730C>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417862	0.83449	.	.	ENSG00000105866	ENST00000222584;ENST00000432066	T	0.11169	2.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00338	-1.1806	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	577	Q02446	SP4_HUMAN	H	577;20	ENSP00000222584:P577H	ENSP00000222584:P577H	P	+	2	0	SP4	21483273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.941000	0.99782	0.655000	0.94253	CCT		0.423	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		5	56	1	0	0.014758	1	0.0152625	5	56				
KMT2C	58508	broad.mit.edu	37	7	151917719	151917719	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151917719T>G	ENST00000262189.6	-	23	3819	c.3601A>C	c.(3601-3603)Aaa>Caa	p.K1201Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.K1201Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1201					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATTTTGGTTTTGACCGTTTT	0.443																																						ENST00000355193.2																			0											c.(3601-3603)Aaa>Caa		lysine (K)-specific methyltransferase 2C							104.0	96.0	99.0					7																	151917719		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151917719T>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3601A>C	7.37:g.151917719T>G	ENSP00000262189:p.Lys1201Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.K1201Q	p.K1201Q							23	3819	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3601A>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392564	0.62066	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85484	-1.99;-1.99	4.44	4.44	0.53790	.	0.000000	0.46442	U	0.000290	D	0.86125	0.5858	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.943	T	0.81904	-0.0719	10	0.10377	T	0.69	.	13.977	0.64279	0.0:0.0:0.0:1.0	.	1201;262	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	Q	1201	ENSP00000262189:K1201Q;ENSP00000347325:K1201Q	ENSP00000262189:K1201Q	K	-	1	0	MLL3	151548652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.599000	0.82757	1.753000	0.51906	0.397000	0.26171	AAA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			43	47	0	0	0	1	0	43	47				
MIER2	54531	broad.mit.edu	37	19	327978	327978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:327978C>T	ENST00000264819.4	-	4	265	c.255G>A	c.(253-255)atG>atA	p.M85I	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAGGGCATGTCGTTGC	0.617																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(253-255)atG>atA		mesoderm induction early response 1, family member 2							98.0	75.0	82.0					19																	327978		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:327978C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.255G>A	19.37:g.327978C>T	ENSP00000264819:p.Met85Ile					MIER2_ENST00000592722.1_5'UTR	p.M85I	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	265	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	85					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.255G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.190367	0.78789	.	.	ENSG00000105556	ENST00000264819	T	0.27104	1.69	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000026	T	0.39627	0.1085	M	0.77820	2.39	0.80722	D	1	D	0.54601	0.967	P	0.47430	0.547	T	0.47471	-0.9115	10	0.87932	D	0	-35.3901	15.4975	0.75666	0.0:1.0:0.0:0.0	.	85	Q8N344	MIER2_HUMAN	I	85	ENSP00000264819:M85I	ENSP00000264819:M85I	M	-	3	0	MIER2	278978	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	6.588000	0.74076	2.328000	0.79073	0.563000	0.77884	ATG		0.617	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		4	14	0	0	0	1	0	4	14				
KMT2B	9757	broad.mit.edu	37	19	36221323	36221323	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36221323C>A	ENST00000222270.7	+	24	5157	c.5157C>A	c.(5155-5157)ttC>ttA	p.F1719L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.F1719L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1719					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGCGGAAGTTCTTGACGGGGC	0.562																																						ENST00000420124.1																			0											c.(5155-5157)ttC>ttA									285.0	302.0	296.0					19																	36221323		2123	4230	6353	SO:0001583	missense	0							g.chr19:36221323C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5157C>A	19.37:g.36221323C>A	ENSP00000222270:p.Phe1719Leu					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.F1719L	p.F1719L							24	5157	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5157C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009231	0.35415	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84516	-1.86;-1.86	5.42	-1.03	0.10102	.	0.000000	0.46442	D	0.000290	D	0.84575	0.5502	L	0.46157	1.445	0.47511	D	0.99944	D	0.60575	0.988	P	0.57620	0.824	T	0.81504	-0.0903	10	0.45353	T	0.12	.	10.3549	0.43958	0.0:0.5481:0.0:0.4519	.	1719	Q9UMN6	MLL4_HUMAN	L	1719	ENSP00000222270:F1719L;ENSP00000398837:F1719L	ENSP00000222270:F1719L	F	+	3	2	AD000671.1	40913163	0.955000	0.32602	0.998000	0.56505	0.919000	0.55068	0.120000	0.15647	0.018000	0.15052	0.563000	0.77884	TTC		0.562	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		26	223	1	0	3.73148e-12	1	4.68205e-12	26	223				
KCNH2	3757	broad.mit.edu	37	7	150649611	150649611	+	Missense_Mutation	SNP	C	C	T	rs562875924	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150649611C>T	ENST00000262186.5	-	6	1860	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	KCNH2_ENST00000430723.3_Missense_Mutation_p.G487S|KCNH2_ENST00000392968.2_Missense_Mutation_p.G391S|KCNH2_ENST00000330883.4_Missense_Mutation_p.G147S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	487					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCGATGCGGCCGGGGTGGCTG	0.587													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19754	0.0		0.0	False		,,,				2504	0.001				GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1171-1173)Ggc>Agc		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						127.0	111.0	117.0					7																	150649611		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649611C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1459G>A	7.37:g.150649611C>T	ENSP00000262186:p.Gly487Ser					KCNH2_ENST00000262186.5_Missense_Mutation_p.G487S|KCNH2_ENST00000330883.4_Missense_Mutation_p.G147S|KCNH2_ENST00000430723.3_Missense_Mutation_p.G487S	p.G391S			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	2291	-	all_neural(206;0.219)		487					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1171G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156644	0.78114	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.8	4.8	0.61643	Ion transport (1);	0.288951	0.31542	N	0.007472	D	0.87962	0.6310	N	0.16478	0.41	0.40640	D	0.981937	P;P;B;P;B	0.41910	0.682;0.764;0.025;0.635;0.053	B;B;B;B;B	0.35859	0.106;0.212;0.019;0.183;0.019	D	0.88479	0.3067	10	0.32370	T	0.25	.	15.3692	0.74548	0.0:1.0:0.0:0.0	.	391;487;147;487;147	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	S	147;391;487;147;487	ENSP00000328531:G147S;ENSP00000376695:G391S;ENSP00000262186:G487S;ENSP00000387657:G487S	ENSP00000262186:G487S	G	-	1	0	KCNH2	150280544	0.991000	0.36638	0.988000	0.46212	0.995000	0.86356	4.774000	0.62339	2.233000	0.73108	0.549000	0.68633	GGC		0.587	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		11	56	0	0	0	1	0	11	56				
C4orf17	84103	broad.mit.edu	37	4	100445677	100445677	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100445677G>T	ENST00000326581.4	+	4	699		c.e4-1		C4orf17_ENST00000503257.1_Splice_Site|C4orf17_ENST00000514652.1_Splice_Site	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TTTTATTTCAGAGCCCAGTAG	0.289																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.e4-1		chromosome 4 open reading frame 17							46.0	49.0	48.0					4																	100445677		2203	4287	6490	SO:0001630	splice_region_variant	84103							g.chr4:100445677G>T	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.338-1G>T	4.37:g.100445677G>T						C4orf17_ENST00000326581.4_Splice_Site|C4orf17_ENST00000503257.1_Splice_Site				Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	4	691	+								Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Splice_Site	SNP	ENST00000326581.4	37		CCDS3649.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417458	0.42918	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5425	0.61684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C4orf17	100664700	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	3.774000	0.55341	2.566000	0.86566	0.650000	0.86243	.		0.289	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149	Intron	13	29	1	0	0.000151284	1	0.000166931	13	29				
DDRGK1	65992	broad.mit.edu	37	20	3171368	3171368	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3171368G>A	ENST00000354488.3	-	9	933	c.876C>T	c.(874-876)gcC>gcT	p.A292A	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	292						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGGCAAGCTCGGCGATGGACA	0.642																																						ENST00000354488.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(874-876)gcC>gcT		DDRGK domain containing 1							45.0	53.0	50.0					20																	3171368		2203	4300	6503	SO:0001819	synonymous_variant	65992					endoplasmic reticulum	protein binding	g.chr20:3171368G>A	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.876C>T	20.37:g.3171368G>A						DDRGK1_ENST00000496781.1_5'UTR	p.A292A	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN			9	933	-			292					A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	ENST00000354488.3	37	c.876C>T	CCDS13050.1																																																																																				0.642	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		21	20	0	0	0	1	0	21	20				
TAS2R10	50839	broad.mit.edu	37	12	10978450	10978450	+	Missense_Mutation	SNP	G	G	A	rs200125524		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978450G>A	ENST00000240619.2	-	1	507	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	140					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATTAAGTAACGATGAAATAAG	0.308																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(418-420)tCg>tTg		taste receptor, type 2, member 10		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	50.0	54.0	52.0		419	-1.6	0.0	12		52	1,8591	1.2+/-3.3	0,1,4295	yes	missense	TAS2R10	NM_023921.1	145	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	benign	140/308	10978450	2,12996	2203	4296	6499	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978450G>A	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.419C>T	12.37:g.10978450G>A	ENSP00000240619:p.Ser140Leu						p.S140L	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	507	-			140					Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.419C>T	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	G	3.330	-0.136864	0.06711	2.27E-4	1.16E-4	ENSG00000121318	ENST00000240619	T	0.43688	0.94	4.67	-1.65	0.08291	.	0.134134	0.34986	N	0.003530	T	0.17789	0.0427	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24154	-1.0168	10	0.02654	T	1	.	1.9596	0.03383	0.4413:0.2808:0.1172:0.1608	.	140	Q9NYW0	T2R10_HUMAN	L	140	ENSP00000240619:S140L	ENSP00000240619:S140L	S	-	2	0	TAS2R10	10869717	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-2.207000	0.01230	-0.280000	0.09154	-2.121000	0.00349	TCG		0.308	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			17	30	0	0	0	1	0	17	30				
DNAI1	27019	broad.mit.edu	37	9	34514513	34514513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514513C>T	ENST00000242317.4	+	17	1862	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	564					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCCGACTGGACAGTGAAGATC	0.587									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1690-1692)aCa>aTa		dynein, axonemal, intermediate chain 1							125.0	116.0	119.0					9																	34514513		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514513C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1691C>T	9.37:g.34514513C>T	ENSP00000242317:p.Thr564Ile						p.T564I	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	17	1862	+	all_epithelial(49;0.244)		564					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1691C>T	CCDS6557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801091|3.801091	0.70567|0.70567	.|.	.|.	ENSG00000122735|ENSG00000122735	ENST00000442556|ENST00000379040;ENST00000242317	.|T	.|0.69306	.|-0.39	5.57|5.57	5.57|5.57	0.84162|0.84162	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.054301	.|0.64402	.|D	.|0.000001	.|D	.|0.82866	.|0.5130	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	.|D	.|0.58620	.|0.983	.|D	.|0.68943	.|0.961	.|D	.|0.84828	.|0.0800	.|10	.|0.66056	.|D	.|0.02	.|.	17.0407|17.0407	0.86488|0.86488	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|564	.|Q9UI46	.|DNAI1_HUMAN	X|I	68|120;564	.|ENSP00000242317:T564I	.|ENSP00000242317:T564I	Q|T	+|+	1|2	0|0	DNAI1|DNAI1	34504513|34504513	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.927000|2.927000	0.48900|0.48900	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	CAG|ACA		0.587	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			6	97	0	0	0	1	0	6	97				
NIN	51199	broad.mit.edu	37	14	51245488	51245488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51245488G>A	ENST00000382041.3	-	6	660	c.470C>T	c.(469-471)gCg>gTg	p.A157V	NIN_ENST00000245441.5_Missense_Mutation_p.A157V|NIN_ENST00000530997.2_Missense_Mutation_p.A157V|NIN_ENST00000382043.4_Missense_Mutation_p.A157V|NIN_ENST00000389868.3_Missense_Mutation_p.A157V|NIN_ENST00000453196.1_Missense_Mutation_p.A157V|NIN_ENST00000324330.9_Missense_Mutation_p.A157V	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	157					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTACCTTCCGCTTCATACTC	0.522			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(469-471)gCg>gTg		ninein (GSK3B interacting protein)							139.0	113.0	122.0					14																	51245488		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51245488G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.470C>T	14.37:g.51245488G>A	ENSP00000371472:p.Ala157Val					NIN_ENST00000453196.1_Missense_Mutation_p.A157V|NIN_ENST00000389868.3_Missense_Mutation_p.A157V|NIN_ENST00000382043.4_Missense_Mutation_p.A157V|NIN_ENST00000324330.9_Missense_Mutation_p.A157V|NIN_ENST00000530997.2_Missense_Mutation_p.A157V|NIN_ENST00000382041.3_Missense_Mutation_p.A157V	p.A157V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			6	660	-	all_epithelial(31;0.00244)|Breast(41;0.127)		157					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.470C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373812	0.95923	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.79926	2.475	0.58432	D	0.999991	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.995;0.992;0.998;0.991;0.994	T	0.58504	-0.7625	10	0.72032	D	0.01	-13.4663	16.4835	0.84171	0.0:0.0:1.0:0.0	.	163;157;157;157;157	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	V	157;157;157;157;163;157;157;157;119	ENSP00000245441:A157V;ENSP00000374518:A157V;ENSP00000371474:A157V;ENSP00000371472:A157V;ENSP00000324210:A157V;ENSP00000412391:A157V;ENSP00000398641:A119V	ENSP00000245441:A157V	A	-	2	0	NIN	50315238	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	6.936000	0.75892	2.662000	0.90505	0.655000	0.94253	GCG		0.522	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		43	56	0	0	0	1	0	43	56				
ZNF662	389114	broad.mit.edu	37	3	42955844	42955844	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42955844A>C	ENST00000541208.1	+	5	648	c.279A>C	c.(277-279)gaA>gaC	p.E93D	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E119D|ZNF662_ENST00000440367.2_Missense_Mutation_p.E93D|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGAAAGAAGATTTTATTC	0.423																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(277-279)gaA>gaC		zinc finger protein 662							70.0	75.0	73.0					3																	42955844		2202	4300	6502	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42955844A>C	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.279A>C	3.37:g.42955844A>C	ENSP00000446208:p.Glu93Asp					ZNF662_ENST00000440367.2_Missense_Mutation_p.E93D|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E119D|KRBOX1_ENST00000426937.1_Intron	p.E93D			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	648	+			93					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.279A>C	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	5.358	0.251303	0.10130	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.55588	0.51;0.51;0.51	2.93	1.05	0.20165	.	.	.	.	.	T	0.42177	0.1191	L	0.34521	1.04	0.22280	N	0.999232	P;P	0.49961	0.93;0.884	P;B	0.47102	0.537;0.336	T	0.22765	-1.0207	9	0.46703	T	0.11	.	4.4533	0.11631	0.7585:0.0:0.2415:0.0	.	119;93	F8W7S8;Q6ZS27	.;ZN662_HUMAN	D	93;119;93	ENSP00000405047:E93D;ENSP00000329264:E119D;ENSP00000446208:E93D	ENSP00000329264:E119D	E	+	3	2	ZNF662	42930848	0.995000	0.38212	0.542000	0.28115	0.089000	0.18198	0.173000	0.16724	0.306000	0.22856	0.454000	0.30748	GAA		0.423	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		37	41	0	0	0	1	0	37	41				
ELK1	2002	broad.mit.edu	37	X	47497276	47497276	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497276C>T	ENST00000247161.3	-	4	1059	c.960G>A	c.(958-960)gaG>gaA	p.E320E	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Silent_p.E266E|ELK1_ENST00000376983.3_Silent_p.E320E	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	320					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGAGTGGAAGCTCTAGGTCCC	0.721																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(958-960)gaG>gaA		ELK1, member of ETS oncogene family							6.0	7.0	7.0					X																	47497276		2094	4100	6194	SO:0001819	synonymous_variant	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47497276C>T	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.960G>A	X.37:g.47497276C>T						ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Silent_p.E320E|ELK1_ENST00000592066.1_Silent_p.E266E	p.E320E	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			4	1059	-			320					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	ENST00000247161.3	37	c.960G>A	CCDS14283.1																																																																																				0.721	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		4	4	0	0	0	1	0	4	4				
TRPM6	140803	broad.mit.edu	37	9	77365589	77365589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77365589C>A	ENST00000360774.1	-	30	5285	c.5048G>T	c.(5047-5049)aGg>aTg	p.R1683M	TRPM6_ENST00000376871.3_Missense_Mutation_p.R516M|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1678M|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1683M|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1678M|TRPM6_ENST00000376872.3_Missense_Mutation_p.R634M|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1683M	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1683					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGGAGTTCCTATTGAGGTT	0.418																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5047-5049)aGg>aTg		transient receptor potential cation channel, subfamily M, member 6							105.0	106.0	106.0					9																	77365589		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77365589C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5048G>T	9.37:g.77365589C>A	ENSP00000354006:p.Arg1683Met					TRPM6_ENST00000376871.3_Missense_Mutation_p.R516M|TRPM6_ENST00000376872.3_Missense_Mutation_p.R634M|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1678M|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1683M|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1678M|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1683M	p.R1683M			Q9BX84	TRPM6_HUMAN			30	5285	-			1683					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5048G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407827	0.62399	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T;T	0.60548	0.53;0.57;0.18;0.18;0.53;0.53;0.47	5.7	4.8	0.61643	.	0.330445	0.31697	N	0.007206	T	0.52725	0.1752	N	0.08118	0	0.19575	N	0.999968	P;D;D;D;D	0.65815	0.828;0.994;0.991;0.995;0.995	P;P;P;P;P	0.62560	0.646;0.904;0.707;0.847;0.8	T	0.49466	-0.8937	10	0.52906	T	0.07	.	12.058	0.53546	0.0:0.9181:0.0:0.0819	.	516;634;1683;1678;1678	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;TRPM6_HUMAN;.;.	M	1683;1683;634;516;1678;1678;1683	ENSP00000354006:R1683M;ENSP00000407341:R1683M;ENSP00000366068:R634M;ENSP00000366067:R516M;ENSP00000396672:R1678M;ENSP00000354962:R1678M;ENSP00000366060:R1683M	ENSP00000354006:R1683M	R	-	2	0	TRPM6	76555409	0.336000	0.24757	0.088000	0.20740	0.080000	0.17528	2.569000	0.45973	2.686000	0.91538	0.650000	0.86243	AGG		0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		31	50	1	0	3.90053e-15	1	4.99885e-15	31	50				
USP9X	8239	broad.mit.edu	37	X	41025363	41025363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41025363C>T	ENST00000324545.8	+	16	2857	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R742*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	742					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTGTTTTGAGCGATTCTTCAA	0.363																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2224-2226)Cga>Tga		ubiquitin specific peptidase 9, X-linked							98.0	94.0	95.0					X																	41025363		2196	4297	6493	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41025363C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2224C>T	X.37:g.41025363C>T	ENSP00000316357:p.Arg742*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.R742*	p.R742*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			16	2857	+			742					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.2224C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	39	7.468250	0.98302	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.02	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2677	0.60144	0.4227:0.5773:0.0:0.0	.	.	.	.	X	742	.	ENSP00000316357:R742X	R	+	1	2	USP9X	40910307	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.163000	0.50763	0.058000	0.16222	0.600000	0.82982	CGA		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		38	73	0	0	0	1	0	38	73				
SEC23A	10484	broad.mit.edu	37	14	39524384	39524384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39524384T>C	ENST00000307712.6	-	14	2139	c.1622A>G	c.(1621-1623)gAt>gGt	p.D541G	SEC23A_ENST00000545328.2_Missense_Mutation_p.D512G|SEC23A_ENST00000536508.1_Missense_Mutation_p.D415G|SEC23A_ENST00000537403.1_Missense_Mutation_p.D339G	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	541					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CCTAAGCACATCTGGACCTTC	0.418																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1015-1017)gAt>gGt		Sec23 homolog A (S. cerevisiae)							136.0	129.0	131.0					14																	39524384		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39524384T>C	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1622A>G	14.37:g.39524384T>C	ENSP00000306881:p.Asp541Gly					SEC23A_ENST00000545328.2_Missense_Mutation_p.D512G|SEC23A_ENST00000536508.1_Missense_Mutation_p.D415G|SEC23A_ENST00000307712.6_Missense_Mutation_p.D541G	p.D339G			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	10	2218	-	Hepatocellular(127;0.213)		541					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.1016A>G	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	T	32	5.131955	0.94473	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.81	5.81	0.92471	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.79784	0.993;0.967;0.986	D	0.99748	1.1017	10	0.87932	D	0	-22.3971	16.1603	0.81700	0.0:0.0:0.0:1.0	.	512;415;541	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	G	339;541;415;512	ENSP00000444193:D339G;ENSP00000306881:D541G;ENSP00000437715:D415G;ENSP00000445393:D512G	ENSP00000306881:D541G	D	-	2	0	SEC23A	38594135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.870000	0.87175	2.218000	0.71995	0.450000	0.29827	GAT		0.418	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			10	95	0	0	0	1	0	10	95				
DNMT1	1786	broad.mit.edu	37	19	10265689	10265689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265689C>T	ENST00000340748.4	-	19	1723	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	DNMT1_ENST00000359526.4_Silent_p.A512A|DNMT1_ENST00000540357.1_Silent_p.A496A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	496	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CAAATATGGGCGCATACTCGG	0.517																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1486-1488)gcG>gcA		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						109.0	96.0	100.0					19																	10265689		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10265689C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1488G>A	19.37:g.10265689C>T						DNMT1_ENST00000540357.1_Silent_p.A496A|DNMT1_ENST00000359526.4_Silent_p.A512A	p.A496A			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		19	1723	-			496			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.1488G>A	CCDS12228.1																																																																																				0.517	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		22	44	0	0	0	1	0	22	44				
PTPLAD2	401494	broad.mit.edu	37	9	21015896	21015896	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21015896C>T	ENST00000495827.2	-	4	429		c.e4+1		PTPLAD2_ENST00000513293.2_Splice_Site|PTPLAD2_ENST00000488436.1_5'UTR	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCCTTCTTACCTAACCATAT	0.378																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.e4+1		protein tyrosine phosphatase-like A domain containing 2							123.0	112.0	116.0					9																	21015896		1845	4086	5931	SO:0001630	splice_region_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21015896C>T		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.383+1G>A	9.37:g.21015896C>T						PTPLAD2_ENST00000513293.2_Splice_Site|PTPLAD2_ENST00000488436.1_5'UTR		NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	4	429	-								Q7Z385	Splice_Site	SNP	ENST00000495827.2	37		CCDS43791.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670012	0.67814	.	.	ENSG00000188921	ENST00000513293;ENST00000495827	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1743	0.98175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPLAD2	21005896	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.787000	0.62432	2.873000	0.98535	0.561000	0.74099	.		0.378	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915	Intron	9	74	0	0	0	1	0	9	74				
ZNF28	7576	broad.mit.edu	37	19	53304598	53304598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53304598G>T	ENST00000457749.2	-	4	619	c.500C>A	c.(499-501)tCt>tAt	p.S167Y	ZNF28_ENST00000360272.4_Missense_Mutation_p.S114Y|ZNF28_ENST00000438150.2_Missense_Mutation_p.S114Y|ZNF28_ENST00000414252.2_Missense_Mutation_p.S114Y	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTGTTGATAGACTTCTCAAC	0.368																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(340-342)tCt>tAt		zinc finger protein 28							146.0	153.0	150.0					19																	53304598		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304598G>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.500C>A	19.37:g.53304598G>T	ENSP00000397693:p.Ser167Tyr					ZNF28_ENST00000457749.2_Missense_Mutation_p.S167Y|ZNF28_ENST00000414252.2_Missense_Mutation_p.S114Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.S114Y	p.S114Y			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1234	-			167					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.341C>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.37	1.331420	0.24167	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.10382	2.88;3.05;2.88;2.88;2.97	1.81	0.608	0.17569	.	.	.	.	.	T	0.30039	0.0752	H	0.94423	3.535	0.09310	N	1	D	0.61080	0.989	P	0.53809	0.735	T	0.12066	-1.0562	9	0.62326	D	0.03	.	6.0071	0.19553	0.0:0.0:0.4544:0.5456	.	167	P17035	ZNF28_HUMAN	Y	114;167;114;114;114	ENSP00000412143:S114Y;ENSP00000397693:S167Y;ENSP00000353410:S114Y;ENSP00000444965:S114Y;ENSP00000375661:S114Y	ENSP00000353410:S114Y	S	-	2	0	ZNF28	57996410	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.021000	0.12504	0.066000	0.16515	0.298000	0.19748	TCT		0.368	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		55	172	1	0	7.89702e-26	1	1.05124e-25	55	172				
LRRK1	79705	broad.mit.edu	37	15	101601435	101601435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101601435C>A	ENST00000388948.3	+	30	5098	c.4739C>A	c.(4738-4740)cCt>cAt	p.P1580H	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.P1577H	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGTGCTGCCCTGGGATGAAG	0.617																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4729-4731)cCt>cAt		leucine-rich repeat kinase 1							74.0	88.0	83.0					15																	101601435		2109	4237	6346	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101601435C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4739C>A	15.37:g.101601435C>A	ENSP00000373600:p.Pro1580His					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.P1580H	p.P1577H			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		31	5130	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1580						Missense_Mutation	SNP	ENST00000388948.3	37	c.4730C>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106510	0.56291	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.71103	-0.54;-0.54	5.46	2.54	0.30619	.	0.625852	0.16671	N	0.204367	T	0.65037	0.2653	L	0.46157	1.445	0.27559	N	0.950236	D	0.56287	0.975	P	0.44990	0.466	T	0.61138	-0.7123	10	0.66056	D	0.02	.	10.675	0.45781	0.0:0.7975:0.0:0.2025	.	1580	Q38SD2	LRRK1_HUMAN	H	1580;1577;271;134	ENSP00000373600:P1580H;ENSP00000284395:P1577H	ENSP00000284395:P1577H	P	+	2	0	LRRK1	99418958	0.619000	0.27059	0.018000	0.16275	0.476000	0.33039	2.495000	0.45337	1.317000	0.45149	0.555000	0.69702	CCT		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	29	1	0	0.184627	1	0.186383	4	29				
BCAS2	10286	broad.mit.edu	37	1	115118260	115118260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115118260G>T	ENST00000369541.3	-	4	417	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	124					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAGTTCCAGATTCTCAATT	0.368																																						ENST00000369541.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13						c.(370-372)Ctg>Atg		breast carcinoma amplified sequence 2							146.0	137.0	140.0					1																	115118260		2203	4300	6503	SO:0001583	missense	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115118260G>T	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.370C>A	1.37:g.115118260G>T	ENSP00000358554:p.Leu124Met					BCAS2_ENST00000485021.1_5'UTR	p.L124M	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	417	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	124					Q6FGS0	Missense_Mutation	SNP	ENST00000369541.3	37	c.370C>A	CCDS874.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853780	0.71719	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.61	4.7	0.59300	.	0.067376	0.64402	D	0.000008	T	0.77329	0.4114	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82764	-0.0296	9	0.87932	D	0	-26.8799	11.9496	0.52948	0.1399:0.0:0.8601:0.0	.	124	O75934	SPF27_HUMAN	M	124	.	ENSP00000358554:L124M	L	-	1	2	BCAS2	114919783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.238000	0.65366	1.524000	0.49035	-0.151000	0.13558	CTG		0.368	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		5	103	1	0	3.59834e-05	1	4.01776e-05	5	103				
COL27A1	85301	broad.mit.edu	37	9	116931679	116931679	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116931679C>T	ENST00000356083.3	+	3	2235	c.1844C>T	c.(1843-1845)gCa>gTa	p.A615V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	615	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTCCACCTGGCAGGATCTACG	0.642																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1843-1845)gCa>gTa		collagen, type XXVII, alpha 1							58.0	64.0	62.0					9																	116931679		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931679C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1844C>T	9.37:g.116931679C>T	ENSP00000348385:p.Ala615Val						p.A615V	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	2235	+			615			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1844C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357917	0.24598	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.94376	-3.4;-3.41	5.01	-2.63	0.06133	.	.	.	.	.	D	0.83440	0.5255	N	0.17082	0.46	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.68439	-0.5408	9	0.27785	T	0.31	.	5.8482	0.18677	0.1291:0.4573:0.0:0.4135	.	615;562	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	V	615;615;562;562	ENSP00000348385:A615V;ENSP00000391328:A562V	ENSP00000348385:A615V	A	+	2	0	COL27A1	115971500	0.020000	0.18652	0.014000	0.15608	0.668000	0.39293	0.145000	0.16157	-0.655000	0.05387	0.655000	0.94253	GCA		0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		4	69	0	0	0	1	0	4	69				
WWOX	51741	broad.mit.edu	37	16	78458769	78458769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78458769C>A	ENST00000566780.1	+	7	974	c.608C>A	c.(607-609)cCt>cAt	p.P203H	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.P203H|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	203	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTTTCAGGCCTCTTCATGTG	0.463																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(607-609)cCt>cAt		WW domain containing oxidoreductase							313.0	322.0	319.0					16																	78458769		1929	4137	6066	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78458769C>A	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.608C>A	16.37:g.78458769C>A	ENSP00000457230:p.Pro203His					WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.P203H|WWOX_ENST00000406884.2_Intron	p.P203H	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	7	974	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	203			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.608C>A	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	6.607	0.480477	0.12581	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	D	0.90197	-2.63	5.35	4.39	0.52855	NAD(P)-binding domain (1);	0.260600	0.39615	N	0.001316	D	0.88562	0.6470	L	0.61036	1.89	0.39783	D	0.972328	B	0.06786	0.001	B	0.11329	0.006	D	0.85933	0.1453	10	0.37606	T	0.19	.	14.4068	0.67088	0.0:0.9274:0.0:0.0726	.	203	Q9NZC7	WWOX_HUMAN	H	203;46	ENSP00000386161:P203H	ENSP00000299644:P46H	P	+	2	0	WWOX	77016270	0.980000	0.34600	0.990000	0.47175	0.432000	0.31715	4.490000	0.60319	2.479000	0.83701	0.655000	0.94253	CCT		0.463	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			21	496	1	0	1.22574e-08	1	1.47244e-08	21	496				
FAM73B	84895	broad.mit.edu	37	9	131823542	131823542	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131823542G>A	ENST00000358369.4	+	9	1153	c.927G>A	c.(925-927)ccG>ccA	p.P309P	FAM73B_ENST00000406926.2_Silent_p.P309P|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	309					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GAGATTACCCGATCCCACTCT	0.642											OREG0003927	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(925-927)ccG>ccA		family with sequence similarity 73, member B							41.0	31.0	35.0					9																	131823542		2203	4300	6503	SO:0001819	synonymous_variant	84895					integral to membrane		g.chr9:131823542G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.927G>A	9.37:g.131823542G>A			OREG0003927	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1590	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_Silent_p.P309P	p.P309P	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			9	1153	+			309					Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	c.927G>A	CCDS6917.1																																																																																				0.642	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		4	5	0	0	0	1	0	4	5				
MAGEB2	4113	broad.mit.edu	37	X	30237282	30237282	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30237282C>A	ENST00000378988.4	+	2	686	c.585C>A	c.(583-585)tcC>tcA	p.S195S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	195	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGCTCAGTTCCTGGGACTTTC	0.483																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(583-585)tcC>tcA		melanoma antigen family B, 2							60.0	47.0	51.0					X																	30237282		2202	4300	6502	SO:0001819	synonymous_variant	4113						protein binding	g.chrX:30237282C>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.585C>A	X.37:g.30237282C>A							p.S195S	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	686	+			195			MAGE.		O75860	Silent	SNP	ENST00000378988.4	37	c.585C>A	CCDS14219.1																																																																																				0.483	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		8	17	1	0	0.000442599	1	0.00048047	8	17				
MYH8	4626	broad.mit.edu	37	17	10304604	10304604	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10304604C>G	ENST00000403437.2	-	24	3190	c.3096G>C	c.(3094-3096)caG>caC	p.Q1032H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1032					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCACTTGCTGTTCTAGCT	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3094-3096)caG>caC		myosin, heavy chain 8, skeletal muscle, perinatal							171.0	166.0	167.0					17																	10304604		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304604C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3096G>C	17.37:g.10304604C>G	ENSP00000384330:p.Gln1032His					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q1032H	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			24	3190	-			1032					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3096G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100823	0.56183	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87571	-2.27	5.64	4.67	0.58626	.	0.000000	0.39615	U	0.001319	D	0.94198	0.8138	H	0.96460	3.825	0.52099	D	0.999942	D	0.64830	0.994	P	0.55161	0.77	D	0.95862	0.8884	10	0.87932	D	0	.	14.7435	0.69474	0.0:0.9313:0.0:0.0687	.	1032	P13535	MYH8_HUMAN	H	1032	ENSP00000384330:Q1032H	ENSP00000252173:Q1032H	Q	-	3	2	MYH8	10245329	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.906000	0.39887	1.628000	0.50416	-0.145000	0.13849	CAG		0.378	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	108	0	0	0	1	0	7	108				
EPN2	22905	broad.mit.edu	37	17	19232897	19232897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19232897C>A	ENST00000314728.5	+	9	1832	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M	EPN2_ENST00000395618.3_Missense_Mutation_p.L165M|EPN2_ENST00000575595.1_Missense_Mutation_p.L158M|EPN2_ENST00000571254.1_Missense_Mutation_p.L386M|EPN2_ENST00000395620.2_Missense_Mutation_p.L393M|EPN2_ENST00000347697.2_Missense_Mutation_p.L393M|EPN2_ENST00000395626.1_Missense_Mutation_p.L450M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	450	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCAGTAATCTGAATGGTAC	0.458																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1348-1350)Ctg>Atg		epsin 2							157.0	156.0	156.0					17																	19232897		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19232897C>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1348C>A	17.37:g.19232897C>A	ENSP00000320543:p.Leu450Met					EPN2_ENST00000575595.1_Missense_Mutation_p.L158M|EPN2_ENST00000571254.1_Missense_Mutation_p.L386M|EPN2_ENST00000395620.2_Missense_Mutation_p.L393M|EPN2_ENST00000395626.1_Missense_Mutation_p.L450M|EPN2_ENST00000347697.2_Missense_Mutation_p.L393M|EPN2_ENST00000395618.3_Missense_Mutation_p.L165M	p.L450M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			9	1832	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		450			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1348C>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294572	0.40594	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.33865	1.88;1.88;1.88;1.43;1.88;1.39	5.31	-1.12	0.09808	.	0.277746	0.25634	N	0.029340	T	0.35189	0.0923	L	0.60455	1.87	0.29320	N	0.867426	P;P;P;P;P;P;B	0.48764	0.84;0.712;0.915;0.915;0.712;0.84;0.375	P;B;P;P;B;P;B	0.50136	0.486;0.406;0.632;0.632;0.429;0.486;0.245	T	0.30794	-0.9966	10	0.30078	T	0.28	-1.8354	6.252	0.20852	0.0:0.2057:0.1224:0.6718	.	393;386;158;165;450;393;450	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E9PBC2;O95208	.;.;.;.;.;.;EPN2_HUMAN	M	393;165;450;393;393;450	ENSP00000261495:L393M;ENSP00000378980:L165M;ENSP00000320543:L450M;ENSP00000378990:L393M;ENSP00000378982:L393M;ENSP00000378988:L450M	ENSP00000320543:L450M	L	+	1	2	EPN2	19173490	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	1.008000	0.29872	-0.265000	0.09352	0.561000	0.74099	CTG		0.458	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		5	110	1	0	0.014758	1	0.0152625	5	110				
ST6GAL1	6480	broad.mit.edu	37	3	186760527	186760527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186760527C>A	ENST00000169298.3	+	4	710	c.36C>A	c.(34-36)tgC>tgA	p.C12*	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.C12*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	12					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AGTTCAGCTGCTGCGTCCTGG	0.403																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(34-36)tgC>tgA		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							166.0	162.0	163.0					3																	186760527		2203	4300	6503	SO:0001587	stop_gained	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186760527C>A	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.36C>A	3.37:g.186760527C>A	ENSP00000169298:p.Cys12*					ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.C12*	p.C12*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	710	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		12					A8KA14|B2R513|D3DNV3	Nonsense_Mutation	SNP	ENST00000169298.3	37	c.36C>A	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	41	8.547057	0.98857	.	.	ENSG00000073849	ENST00000169298;ENST00000458216;ENST00000430309;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000440338;ENST00000448044;ENST00000416235;ENST00000423451;ENST00000446170	.	.	.	5.44	3.28	0.37604	.	1.144780	0.06116	N	0.668050	.	.	.	.	.	.	0.22280	N	0.999239	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-31.0507	5.9376	0.19175	0.0:0.7427:0.0:0.2573	.	.	.	.	X	12	.	ENSP00000169298:C12X	C	+	3	2	ST6GAL1	188243221	0.932000	0.31603	0.345000	0.25642	0.944000	0.59088	2.362000	0.44169	1.441000	0.47550	0.561000	0.74099	TGC		0.403	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		32	210	1	0	4.4194e-11	1	5.49217e-11	32	210				
SLCO4A1	28231	broad.mit.edu	37	20	61291876	61291876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61291876C>T	ENST00000370507.1	+	3	1096	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Nonsense_Mutation_p.Q334*			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	334					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTACCCTCGGCAGCTGCCAGG	0.637																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1000-1002)Cag>Tag		solute carrier organic anion transporter family, member 4A1							77.0	74.0	75.0					20																	61291876		2203	4300	6503	SO:0001587	stop_gained	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61291876C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1000C>T	20.37:g.61291876C>T	ENSP00000359538:p.Gln334*					SLCO4A1_ENST00000370507.1_Nonsense_Mutation_p.Q334*	p.Q334*	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		4	1205	+	Breast(26;3.65e-08)		334					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Nonsense_Mutation	SNP	ENST00000370507.1	37	c.1000C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	39	7.592283	0.98378	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	.	.	.	4.5	4.5	0.54988	.	0.067376	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	17.182	0.86857	0.0:1.0:0.0:0.0	.	.	.	.	X	334	.	ENSP00000217159:Q334X	Q	+	1	0	SLCO4A1	60762321	1.000000	0.71417	0.983000	0.44433	0.718000	0.41266	4.351000	0.59398	2.046000	0.60703	0.561000	0.74099	CAG		0.637	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		39	35	0	0	0	1	0	39	35				
CCPG1	9236	broad.mit.edu	37	15	55652430	55652430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55652430G>A	ENST00000310958.6	-	8	1839	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	CCPG1_ENST00000569205.1_Missense_Mutation_p.A514V|CCPG1_ENST00000442196.3_Missense_Mutation_p.A514V|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	514					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGCTTCTTTAGCCTGCTTAAT	0.333																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1540-1542)gCt>gTt		cell cycle progression 1							133.0	128.0	129.0					15																	55652430		1792	4056	5848	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652430G>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1541C>T	15.37:g.55652430G>A	ENSP00000311656:p.Ala514Val					CCPG1_ENST00000569205.1_Missense_Mutation_p.A514V|CCPG1_ENST00000442196.3_Missense_Mutation_p.A514V|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	p.A514V	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	1839	-			514					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1541C>T	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415935	0.83449	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.38401	1.14;1.14	5.36	5.36	0.76844	.	0.048314	0.85682	D	0.000000	T	0.58366	0.2117	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	T	0.58923	-0.7550	10	0.59425	D	0.04	.	18.0652	0.89388	0.0:0.0:1.0:0.0	.	514;514;514;370	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	V	514	ENSP00000311656:A514V;ENSP00000403400:A514V	ENSP00000311656:A514V	A	-	2	0	DYX1C1	53439722	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.357000	0.97099	2.532000	0.85374	0.591000	0.81541	GCT		0.333	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		19	200	0	0	0	1	0	19	200				
CBLL1	79872	broad.mit.edu	37	7	107399325	107399325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399325C>T	ENST00000440859.3	+	6	1645	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	CBLL1_ENST00000222597.2_Missense_Mutation_p.A392V	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	393	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CATATTATTGCCCAGATGCCA	0.532																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1177-1179)gCc>gTc		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							198.0	202.0	201.0					7																	107399325		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399325C>T	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1178C>T	7.37:g.107399325C>T	ENSP00000401277:p.Ala393Val					CBLL1_ENST00000222597.2_Missense_Mutation_p.A392V	p.A393V	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1645	+			393			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1178C>T	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840563	0.32513	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597	T;T	0.33438	1.41;1.41	4.88	3.97	0.46021	.	0.129614	0.50627	D	0.000119	T	0.22205	0.0535	L	0.29908	0.895	0.80722	D	1	D;D	0.52996	0.957;0.957	B;B	0.39660	0.306;0.306	T	0.01982	-1.1235	10	0.31617	T	0.26	-1.3154	14.5554	0.68097	0.1476:0.8524:0.0:0.0	.	392;393	B7ZM03;Q75N03	.;HAKAI_HUMAN	V	393;272;392	ENSP00000401277:A393V;ENSP00000222597:A392V	ENSP00000222597:A392V	A	+	2	0	CBLL1	107186561	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.282000	0.51693	1.140000	0.42260	0.491000	0.48974	GCC		0.532	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		61	168	0	0	0	1	0	61	168				
SAGE1	55511	broad.mit.edu	37	X	134989494	134989494	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134989494C>A	ENST00000370709.3	+	8	900	c.900C>A	c.(898-900)gtC>gtA	p.V300V	SAGE1_ENST00000535938.1_Silent_p.V300V|SAGE1_ENST00000324447.3_Silent_p.V300V|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	300						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCACAATGTCTGTGAAGAGA	0.438																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(898-900)gtC>gtA		sarcoma antigen 1							122.0	100.0	107.0					X																	134989494		2203	4299	6502	SO:0001819	synonymous_variant	55511							g.chrX:134989494C>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.900C>A	X.37:g.134989494C>A						SAGE1_ENST00000370709.3_Silent_p.V300V|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.V300V	p.V300V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			9	1067	+	Acute lymphoblastic leukemia(192;0.000127)		300					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.900C>A	CCDS14652.1																																																																																				0.438	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		6	124	1	0	2.0095e-06	1	2.31757e-06	6	124				
PARP11	57097	broad.mit.edu	37	12	3939117	3939117	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3939117G>A	ENST00000427057.2	-	0	333				PARP11_ENST00000228820.4_Missense_Mutation_p.T29M|PARP11_ENST00000447133.3_De_novo_Start_OutOfFrame|PARP11_ENST00000397096.2_Missense_Mutation_p.T22M			Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11								NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413																																						ENST00000427057.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17								poly (ADP-ribose) polymerase family, member 11							180.0	160.0	167.0					12																	3939117		2203	4300	6503			57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3939117G>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000427057.2:c.-37C>T	12.37:g.3939117G>A						PARP11_ENST00000228820.4_Missense_Mutation_p.T29M|PARP11_ENST00000447133.3_De_novo_Start_OutOfFrame|PARP11_ENST00000397096.2_Missense_Mutation_p.T22M				Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		0	333	-								B4DRQ0|Q68DS1|Q8N5Y9	Translation_Start_Site	SNP	ENST00000427057.2	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.070779|4.070779	0.76301|0.76301	.|.	.|.	ENSG00000111224|ENSG00000111224	ENST00000450737|ENST00000397096;ENST00000228820	.|T;T	.|0.30981	.|1.51;1.51	5.52|5.52	5.52|5.52	0.82312|0.82312	.|WWE domain (1);	.|0.049144	.|0.85682	.|D	.|0.000000	T|T	0.43942|0.43942	0.1270|0.1270	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.69307	.|0.938;0.963	T|T	0.10451|0.10451	-1.0629|-1.0629	6|10	0.87932|0.36615	D|T	0|0.2	.|.	10.2001|10.2001	0.43077|0.43077	0.0872:0.0:0.9128:0.0|0.0872:0.0:0.9128:0.0	.|.	.|29;22	.|Q9NR21-4;Q9NR21	.|.;PAR11_HUMAN	C|M	8|22;29	.|ENSP00000380284:T22M;ENSP00000228820:T29M	ENSP00000387481:R8C|ENSP00000228820:T29M	R|T	-|-	1|2	0|0	PARP11|PARP11	3809378|3809378	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.876000|0.876000	0.50452|0.50452	6.956000|6.956000	0.76013|0.76013	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CGT|ACG		0.413	PARP11-006	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000398278.1			4	58	0	0	0	1	0	4	58				
VPS13C	54832	broad.mit.edu	37	15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62302756G>A	ENST00000261517.5	-	13	999	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L|VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(925-927)cCt>cTt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							201.0	182.0	188.0					15																	62302756		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62302756G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.926C>T	15.37:g.62302756G>A	ENSP00000261517:p.Pro309Leu					VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L|VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L	p.P309L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			13	999	-			309						Missense_Mutation	SNP	ENST00000261517.5	37	c.926C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358276	0.82243	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45276	0.9;0.9;1.06	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	M	0.84326	2.69	0.80722	D	1	P;D;P;P	0.56035	0.735;0.974;0.855;0.632	B;P;P;B	0.55871	0.36;0.786;0.46;0.271	T	0.70831	-0.4765	10	0.87932	D	0	.	18.9519	0.92644	0.0:0.0:1.0:0.0	.	266;309;266;309	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	266;309;309;309	ENSP00000249837:P266L;ENSP00000261517:P309L;ENSP00000379233:P309L	ENSP00000249837:P266L	P	-	2	0	VPS13C	60090048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.056000	0.89455	2.557000	0.86248	0.557000	0.71058	CCT		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		39	51	0	0	0	1	0	39	51				
ANKS1A	23294	broad.mit.edu	37	6	35051220	35051220	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35051220C>T	ENST00000360359.3	+	20	3072	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	978	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAAGAAGATCCCCACCATCA	0.547																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2932-2934)atC>atT		ankyrin repeat and sterile alpha motif domain containing 1A							221.0	179.0	193.0					6																	35051220		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:35051220C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2934C>T	6.37:g.35051220C>T						ANKS1A_ENST00000535627.1_Intron	p.I978I	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			20	3072	+			978			PID.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.2934C>T	CCDS4798.1																																																																																				0.547	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		14	37	0	0	0	1	0	14	37				
COX17	10063	broad.mit.edu	37	3	119394034	119394034	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119394034G>T	ENST00000261070.2	-	2	246	c.154C>A	c.(154-156)Cac>Aac	p.H52N	COX17_ENST00000497116.1_Missense_Mutation_p.H52N|COX17_ENST00000484810.1_Missense_Mutation_p.H87N	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	52					brain development (GO:0007420)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|heart development (GO:0007507)	cytoplasm (GO:0005737)|mitochondrial intermembrane space (GO:0005758)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CATTCCTTGTGGGCCTCAATT	0.343																																						ENST00000261070.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)	3						c.(154-156)Cac>Aac		COX17 cytochrome c oxidase copper chaperone							139.0	130.0	133.0					3																	119394034		2203	4298	6501	SO:0001583	missense	10063				copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity	g.chr3:119394034G>T	L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495		"""Mitochondrial respiratory chain complex assembly factors"""	2264	protein-coding gene	gene with protein product		604813	"""COX17 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX17 homolog, cytochrome c oxidase assembly protein (yeast)"", ""COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae)"", ""COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 17 (yeast)"""			9050918, 21816817	Standard	NM_005694		Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000261070.2:c.154C>A	3.37:g.119394034G>T	ENSP00000261070:p.His52Asn					COX17_ENST00000484810.1_Missense_Mutation_p.H87N|COX17_ENST00000497116.1_Missense_Mutation_p.H52N	p.H52N	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN		GBM - Glioblastoma multiforme(114;0.227)	2	246	-			52					B2R5D2|D3DN84|Q3MHD6	Missense_Mutation	SNP	ENST00000261070.2	37	c.154C>A	CCDS2993.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328513	0.81690	.	.	ENSG00000138495	ENST00000261070;ENST00000484810;ENST00000497116	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81562	-0.0876	8	0.87932	D	0	-9.9099	16.1701	0.81808	0.0:0.0:1.0:0.0	.	52	Q14061	COX17_HUMAN	N	52;87;52	.	ENSP00000261070:H52N	H	-	1	0	COX17	120876724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.172000	0.77604	2.793000	0.96121	0.655000	0.94253	CAC		0.343	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355297.2	NM_005694		12	74	1	0	4.93089e-13	1	6.23885e-13	12	74				
NMD3	51068	broad.mit.edu	37	3	160945126	160945126	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160945126A>C	ENST00000460469.1	+	3	726	c.271A>C	c.(271-273)Agt>Cgt	p.S91R	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.S91R|NMD3_ENST00000351193.2_Missense_Mutation_p.S91R			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	91					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGCCCCTCTGAGTAAGGTAAG	0.348																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(271-273)Agt>Cgt		NMD3 ribosome export adaptor							87.0	83.0	84.0					3																	160945126		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160945126A>C	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.271A>C	3.37:g.160945126A>C	ENSP00000419004:p.Ser91Arg					NMD3_ENST00000472947.1_Missense_Mutation_p.S91R|NMD3_ENST00000351193.2_Missense_Mutation_p.S91R|NMD3_ENST00000478160.1_3'UTR	p.S91R			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		3	726	+			91					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.271A>C	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978211	0.53720	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.94;0.93	5.54	4.37	0.52481	.	0.231828	0.50627	D	0.000108	T	0.42743	0.1216	L	0.55990	1.75	0.54753	D	0.999982	B;B	0.27316	0.014;0.175	B;B	0.35770	0.056;0.21	T	0.34104	-0.9842	10	0.52906	T	0.07	-44.465	10.8771	0.46917	0.9255:0.0:0.0745:0.0	.	91;91	C9JA08;Q96D46	.;NMD3_HUMAN	R	91	ENSP00000418852:S91R;ENSP00000418980:S91R;ENSP00000419030:S91R;ENSP00000307525:S91R;ENSP00000417559:S91R;ENSP00000418908:S91R;ENSP00000419647:S91R;ENSP00000419004:S91R	ENSP00000307525:S91R	S	+	1	0	NMD3	162427820	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.292000	0.59031	0.915000	0.36847	0.482000	0.46254	AGT		0.348	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		21	41	0	0	0	1	0	21	41				
ZNF106	64397	broad.mit.edu	37	15	42740426	42740426	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42740426G>T	ENST00000263805.4	-	3	3236	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S	ZNF106_ENST00000565380.1_Silent_p.S198S|ZNF106_ENST00000565611.1_Silent_p.S155S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	970					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TACTCTCCTGGGAATTCTGAT	0.473																																						ENST00000263805.4																			0											c.(2908-2910)tcC>tcA		zinc finger protein 106							163.0	162.0	163.0					15																	42740426		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42740426G>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2910C>A	15.37:g.42740426G>T						ZNF106_ENST00000565611.1_Silent_p.S155S|ZNF106_ENST00000565380.1_Silent_p.S198S	p.S970S	NM_022473.1	NP_071918.1					3	3236	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.2910C>A	CCDS32208.1																																																																																				0.473	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		11	139	1	0	0.0809354	1	0.0825713	11	139				
PCSK7	9159	broad.mit.edu	37	11	117100139	117100139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117100139C>T	ENST00000320934.3	-	3	1052	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis. {ECO:0000250}.			peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGGACGCTGCGCTTGGCCCG	0.617			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(421-423)cGc>cAc		proprotein convertase subtilisin/kexin type 7							88.0	92.0	90.0					11																	117100139		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117100139C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.422G>A	11.37:g.117100139C>T	ENSP00000325917:p.Arg141His						p.R141H	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	3	1052	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	141				Cleavage; by autolysis (By similarity).	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.422G>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656277	0.88056	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	T;T	0.64085	-0.08;0.97	4.06	4.06	0.47325	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87793	0.2620	10	0.87932	D	0	-24.0593	14.9816	0.71316	0.0:1.0:0.0:0.0	.	141	Q16549	PCSK7_HUMAN	H	141	ENSP00000325917:R141H;ENSP00000431181:R141H	ENSP00000325917:R141H	R	-	2	0	PCSK7	116605349	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.461000	0.80834	2.097000	0.63578	0.462000	0.41574	CGC		0.617	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		18	127	0	0	0	1	0	18	127				
RC3H2	54542	broad.mit.edu	37	9	125618095	125618095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125618095C>T	ENST00000373670.1	-	13	3117	c.2517G>A	c.(2515-2517)tgG>tgA	p.W839*	RC3H2_ENST00000357244.2_Nonsense_Mutation_p.W839*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.W839*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	839					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCACAAGACCAGGGAGAAT	0.368																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2515-2517)tgG>tgA		ring finger and CCCH-type domains 2							102.0	99.0	100.0					9																	125618095		1863	4097	5960	SO:0001587	stop_gained	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125618095C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2517G>A	9.37:g.125618095C>T	ENSP00000362774:p.Trp839*					RC3H2_ENST00000357244.2_Nonsense_Mutation_p.W839*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.W839*	p.W839*			Q9HBD1	RC3H2_HUMAN			13	3117	-			839					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Nonsense_Mutation	SNP	ENST00000373670.1	37	c.2517G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	41	9.102478	0.99066	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	.	.	.	5.53	5.53	0.82687	.	0.057015	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5836	16.6089	0.84838	0.0:1.0:0.0:0.0	.	.	.	.	X	839;839;710;839	.	ENSP00000349783:W839X	W	-	3	0	RC3H2	124657916	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.566000	0.73978	2.595000	0.87683	0.655000	0.94253	TGG		0.368	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		32	47	0	0	0	1	0	32	47				
GPR155	151556	broad.mit.edu	37	2	175301145	175301145	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301145C>A	ENST00000392552.2	-	16	2551		c.e16-1		GPR155_ENST00000459996.1_Splice_Site|GPR155_ENST00000295500.4_Splice_Site|GPR155_ENST00000392551.2_Splice_Site	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155						cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCACCACACCTGTGTCAAAG	0.458																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.e16-1		G protein-coupled receptor 155							91.0	91.0	91.0					2																	175301145		2203	4300	6503	SO:0001630	splice_region_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175301145C>A	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2313-1G>T	2.37:g.175301145C>A						GPR155_ENST00000295500.4_Splice_Site|GPR155_ENST00000392551.2_Splice_Site|GPR155_ENST00000459996.1_Splice_Site		NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			16	2551	-								B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Splice_Site	SNP	ENST00000392552.2	37		CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356826	0.82243	.	.	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR155	175009391	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.827000	0.75303	2.873000	0.98535	0.561000	0.74099	.		0.458	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	Intron	16	33	1	0	4.75885e-15	1	6.09718e-15	16	33				
SLC7A4	6545	broad.mit.edu	37	22	21385780	21385780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21385780C>T	ENST00000382932.2	-	2	389	c.322G>A	c.(322-324)Gta>Ata	p.V108I	SLC7A4_ENST00000403586.1_Missense_Mutation_p.V108I|AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	108					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCATGGATACGTAGGTGAAC	0.627																																						ENST00000382932.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(322-324)Gta>Ata		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						57.0	44.0	48.0					22																	21385780		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385780C>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.322G>A	22.37:g.21385780C>T	ENSP00000372390:p.Val108Ile					SLC7A4_ENST00000403586.1_Missense_Mutation_p.V108I|AC002472.11_ENST00000450652.1_RNA	p.V108I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	389	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	108					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.322G>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483346	0.63962	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89196	-2.48;-2.48	5.39	5.39	0.77823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.87107	0.6095	L	0.49571	1.57	0.52099	D	0.999949	B	0.32604	0.377	B	0.35971	0.215	D	0.84761	0.0762	10	0.32370	T	0.25	.	17.0217	0.86435	0.0:1.0:0.0:0.0	.	108	O43246	CTR4_HUMAN	I	108	ENSP00000384278:V108I;ENSP00000372390:V108I	ENSP00000372390:V108I	V	-	1	0	SLC7A4	19715780	0.998000	0.40836	0.935000	0.37517	0.384000	0.30261	3.737000	0.55060	2.684000	0.91462	0.561000	0.74099	GTA		0.627	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		11	20	0	0	0	1	0	11	20				
MARCH10	162333	broad.mit.edu	37	17	60813930	60813930	+	Silent	SNP	G	G	T	rs147951735		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60813930G>T	ENST00000311269.5	-	6	1573	c.1299C>A	c.(1297-1299)acC>acA	p.T433T	MARCH10_ENST00000583600.1_Silent_p.T471T|MARCH10_ENST00000544856.2_Silent_p.T432T|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Silent_p.T433T|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	433					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGAATCATGGGTGCCAGGCC	0.418																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(1294-1296)acC>acA		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							85.0	80.0	82.0					17																	60813930		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60813930G>T	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1299C>A	17.37:g.60813930G>T						MARCH10_ENST00000311269.5_Silent_p.T433T|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.T433T|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.T471T	p.T432T			Q8NA82	MARHA_HUMAN			7	1674	-			433					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.1296C>A	CCDS11635.1																																																																																				0.418	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		6	107	1	0	0.0293803	1	0.0301098	6	107				
DNAAF1	123872	broad.mit.edu	37	16	84188402	84188402	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84188402C>A	ENST00000378553.5	+	4	697	c.573C>A	c.(571-573)ctC>ctA	p.L191L	DNAAF1_ENST00000334315.5_Splice_Site_p.L191L	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	191					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAAAACCTCTGTAAGGGTA	0.438																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.e4+1		dynein, axonemal, assembly factor 1							67.0	63.0	64.0					16																	84188402		2200	4300	6500	SO:0001630	splice_region_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84188402C>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.574+1C>A	16.37:g.84188402C>A						DNAAF1_ENST00000334315.5_Splice_Site_p.L191_splice	p.L191_splice	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			4	697	+			191					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Splice_Site	SNP	ENST00000378553.5	37	c.574_splice	CCDS10943.2																																																																																				0.438	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	Silent	6	70	1	0	0.217242	1	0.218821	6	70				
DENND6A	201627	broad.mit.edu	37	3	57613950	57613950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57613950G>A	ENST00000311128.5	-	20	1888	c.1818C>T	c.(1816-1818)ggC>ggT	p.G606G	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	606					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										ATCATGTCATGCCCGTTTTGA	0.433																																						ENST00000311128.5																			0											c.(1816-1818)ggC>ggT		DENN/MADD domain containing 6A							197.0	172.0	181.0					3																	57613950		2203	4300	6503	SO:0001819	synonymous_variant	201627							g.chr3:57613950G>A	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1818C>T	3.37:g.57613950G>A							p.G606G	NM_152678.2	NP_689891.1					20	1888	-								Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	c.1818C>T	CCDS33773.1																																																																																				0.433	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		5	85	0	0	0	1	0	5	85				
TBC1D3	729873	broad.mit.edu	37	17	36353755	36353755	+	5'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36353755G>A	ENST00000537432.1	-	0	167				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.T369I|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.T214I			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAAAGATGAGTCCACCATTC	0.353																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(1105-1107)aCt>aTt																																						SO:0001623	5_prime_UTR_variant	0							g.chr17:36353755G>A		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.-322C>T	17.37:g.36353755G>A						RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.T214I|TBC1D3_ENST00000537432.1_5'UTR	p.T369I							10	1105	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.1106C>T	CCDS45658.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047367	0.55110	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	2.5	2.5	0.30297	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02484	-1.1152	6	0.72032	D	0.01	.	12.9976	0.58657	0.0:0.0:1.0:0.0	.	.	.	.	I	214;369;369;365	ENSP00000444117:T214I;ENSP00000428261:T369I;ENSP00000308540:T369I;ENSP00000428330:T365I	ENSP00000308540:T369I	T	-	2	0	RP11-1407O15.2	33607554	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	9.426000	0.97469	1.389000	0.46526	0.184000	0.17185	ACT		0.353	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		5	117	0	0	0	1	0	5	117				
CYP4A22	284541	broad.mit.edu	37	1	47603166	47603166	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47603166C>A	ENST00000371891.3	+	1	40	c.9C>A	c.(7-9)gtC>gtA	p.V3V	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.V3V|CYP4A22_ENST00000371890.3_Silent_p.V3V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	3						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATGAGTGTCTCTGTCCTGA	0.602																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(7-9)gtC>gtA		cytochrome P450, family 4, subfamily A, polypeptide 22							93.0	86.0	88.0					1																	47603166		2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47603166C>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.9C>A	1.37:g.47603166C>A						CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.V3V|CYP4A22_ENST00000371890.3_Silent_p.V3V	p.V3V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			1	40	+			3					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.9C>A	CCDS30707.1																																																																																				0.602	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		37	58	1	0	1.30998e-17	1	1.70068e-17	37	58				
NOB1	28987	broad.mit.edu	37	16	69786169	69786169	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69786169G>T	ENST00000268802.5	-	3	331	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	101	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTTAGGTGAGACACCCCAAC	0.433																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(301-303)tCt>tAt		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							175.0	167.0	170.0					16																	69786169		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69786169G>T	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.302C>A	16.37:g.69786169G>T	ENSP00000268802:p.Ser101Tyr						p.S101Y	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			3	331	-			101			PINc.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.302C>A	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920045	0.73098	.	.	ENSG00000141101	ENST00000268802	T	0.32023	1.47	5.21	5.21	0.72293	Nucleotide binding protein, PINc (1);	0.350509	0.29752	N	0.011282	T	0.34337	0.0894	L	0.43152	1.355	0.38191	D	0.939895	P	0.50819	0.939	P	0.49561	0.615	T	0.09707	-1.0662	9	.	.	.	.	12.9262	0.58262	0.0:0.0:0.8374:0.1626	.	101	Q9ULX3	NOB1_HUMAN	Y	101	ENSP00000268802:S101Y	.	S	-	2	0	NOB1	68343670	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	4.022000	0.57203	2.569000	0.86673	0.655000	0.94253	TCT		0.433	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		34	121	1	0	2.20474e-14	1	2.81294e-14	34	121				
EHF	26298	broad.mit.edu	37	11	34680413	34680413	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34680413G>T	ENST00000533754.1	+	9	1055	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	EHF_ENST00000450654.2_Missense_Mutation_p.D257Y|EHF_ENST00000257831.3_Missense_Mutation_p.D280Y|EHF_ENST00000530286.1_Missense_Mutation_p.D280Y|EHF_ENST00000531794.1_Missense_Mutation_p.D302Y					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGCGTGTGGATGGACGAAG	0.408																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(838-840)Gat>Tat		ets homologous factor							73.0	74.0	74.0					11																	34680413		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680413G>T	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.838G>T	11.37:g.34680413G>T	ENSP00000435837:p.Asp280Tyr					EHF_ENST00000531794.1_Missense_Mutation_p.D302Y|EHF_ENST00000533754.1_Missense_Mutation_p.D280Y|EHF_ENST00000450654.2_Missense_Mutation_p.D257Y|EHF_ENST00000530286.1_Missense_Mutation_p.D280Y	p.D280Y	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		9	959	+		all_hematologic(20;0.117)	280						Missense_Mutation	SNP	ENST00000533754.1	37	c.838G>T	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510927	0.85389	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.51942	-0.8641	10	0.66056	D	0.02	.	19.5803	0.95464	0.0:0.0:1.0:0.0	.	302;257;280	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	Y	280;257;280;280;302	ENSP00000257831:D280Y;ENSP00000399733:D257Y;ENSP00000433508:D280Y;ENSP00000435837:D280Y;ENSP00000435835:D302Y	ENSP00000257831:D280Y	D	+	1	0	EHF	34636989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.632000	0.98428	2.635000	0.89317	0.561000	0.74099	GAT		0.408	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		5	56	1	0	0.248553	1	0.25002	5	56				
RAB11FIP3	9727	broad.mit.edu	37	16	560783	560783	+	Silent	SNP	C	C	T	rs143343068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:560783C>T	ENST00000262305.4	+	9	2011	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RAB11FIP3_ENST00000457159.1_Silent_p.I586I|RAB11FIP3_ENST00000450428.1_Silent_p.I245I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	541	ARF-binding domain (ABD).				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCATTGAGATCGAGAACCTGC	0.612																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1621-1623)atC>atT		RAB11 family interacting protein 3 (class II)		C	,	1,4395	2.1+/-5.4	0,1,2197	119.0	99.0	106.0		735,1623	-10.0	0.1	16	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RAB11FIP3	NM_001142272.1,NM_014700.3	,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,	245/461,541/757	560783	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:560783C>T	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1623C>T	16.37:g.560783C>T						RAB11FIP3_ENST00000450428.1_Silent_p.I245I|RAB11FIP3_ENST00000457159.1_Silent_p.I586I	p.I541I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			9	2011	+		Hepatocellular(16;0.0218)	541			ARF-binding domain (ABD).		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.1623C>T	CCDS32351.1																																																																																				0.612	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		9	12	0	0	0	1	0	9	12				
RPTOR	57521	broad.mit.edu	37	17	78866640	78866640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866640C>A	ENST00000306801.3	+	19	2575	c.2213C>A	c.(2212-2214)tCt>tAt	p.S738Y	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S580Y	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	738					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S738Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCAACAAATCTTTGCAGAAC	0.498																																						ENST00000306801.3																			1	Substitution - Missense(1)	p.S738Y(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2212-2214)tCt>tAt		regulatory associated protein of MTOR, complex 1							112.0	125.0	121.0					17																	78866640		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78866640C>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2213C>A	17.37:g.78866640C>A	ENSP00000307272:p.Ser738Tyr					RPTOR_ENST00000544334.2_Missense_Mutation_p.S580Y|RPTOR_ENST00000575542.1_3'UTR	p.S738Y	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			19	2575	+			738					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2213C>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007190	0.54361	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.54071	0.81;0.59	4.65	3.68	0.42216	Armadillo-type fold (1);	0.153836	0.45361	D	0.000377	T	0.58495	0.2126	L	0.38175	1.15	0.80722	D	1	D;P	0.64830	0.994;0.826	D;B	0.77004	0.989;0.196	T	0.51276	-0.8726	10	0.15952	T	0.53	.	12.5375	0.56150	0.0:0.9186:0.0:0.0814	.	580;738	F5H7J5;Q8N122	.;RPTOR_HUMAN	Y	738;580	ENSP00000307272:S738Y;ENSP00000442479:S580Y	ENSP00000307272:S738Y	S	+	2	0	RPTOR	76481235	1.000000	0.71417	0.073000	0.20177	0.596000	0.36781	4.879000	0.63100	0.958000	0.37956	0.650000	0.86243	TCT		0.498	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		5	68	1	0	5.9392e-07	1	6.91975e-07	5	68				
ZMYM6	9204	broad.mit.edu	37	1	35457900	35457900	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457900T>C	ENST00000357182.4	-	15	2308	c.2081A>G	c.(2080-2082)aAa>aGa	p.K694R	ZMYM6_ENST00000487874.1_Missense_Mutation_p.K694R|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K694R	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	694					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGTGACGGGTTTGCATGATAT	0.433																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(2080-2082)aAa>aGa		zinc finger, MYM-type 6							294.0	255.0	268.0					1																	35457900		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35457900T>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2081A>G	1.37:g.35457900T>C	ENSP00000349708:p.Lys694Arg					ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K694R|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K694R	p.K694R	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			15	2308	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	694					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.2081A>G	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100220	0.37048	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.26957	1.7;2.82	4.62	4.62	0.57501	.	0.052866	0.64402	D	0.000001	T	0.43787	0.1263	L	0.52759	1.655	0.52099	D	0.999948	D;B;B	0.63880	0.993;0.03;0.032	D;B;B	0.72625	0.978;0.034;0.106	T	0.27434	-1.0074	10	0.46703	T	0.11	-13.5507	14.1261	0.65222	0.0:0.0:0.0:1.0	.	597;694;694	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	R	694	ENSP00000362437:K694R;ENSP00000349708:K694R	ENSP00000349708:K694R	K	-	2	0	ZMYM6	35230487	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	2.906000	0.48735	2.078000	0.62432	0.477000	0.44152	AAA		0.433	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		11	104	0	0	0	1	0	11	104				
MAGI3	260425	broad.mit.edu	37	1	114133192	114133192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114133192A>G	ENST00000307546.9	+	5	925	c.850A>G	c.(850-852)Aat>Gat	p.N284D	MAGI3_ENST00000369611.4_Missense_Mutation_p.N284D|MAGI3_ENST00000369617.4_Missense_Mutation_p.N284D|MAGI3_ENST00000369615.1_Missense_Mutation_p.N284D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	284	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGACTTTAGAAATTATATGAT	0.413																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(850-852)Aat>Gat		membrane associated guanylate kinase, WW and PDZ domain containing 3							96.0	93.0	94.0					1																	114133192		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114133192A>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.850A>G	1.37:g.114133192A>G	ENSP00000304604:p.Asn284Asp					MAGI3_ENST00000369617.4_Missense_Mutation_p.N284D|MAGI3_ENST00000307546.9_Missense_Mutation_p.N284D|MAGI3_ENST00000369611.4_Missense_Mutation_p.N284D	p.N284D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	912	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	284			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.850A>G	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	9.397	1.076891	0.20227	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.16073	2.54;2.37;2.54;2.54	5.9	5.9	0.94986	.	0.131843	0.64402	D	0.000002	T	0.14960	0.0361	L	0.36672	1.1	0.40554	D	0.981148	D;P;P	0.62365	0.991;0.914;0.762	P;B;B	0.56434	0.798;0.372;0.352	T	0.07347	-1.0777	10	0.17369	T	0.5	-22.7558	16.3076	0.82855	1.0:0.0:0.0:0.0	.	284;284;284	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	284	ENSP00000358630:N284D;ENSP00000304604:N284D;ENSP00000358628:N284D;ENSP00000358624:N284D	ENSP00000304604:N284D	N	+	1	0	MAGI3	113934715	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	6.374000	0.73132	2.252000	0.74401	0.533000	0.62120	AAT		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		13	70	0	0	0	1	0	13	70				
SYNJ2	8871	broad.mit.edu	37	6	158464356	158464356	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158464356C>T	ENST00000355585.4	+	5	795	c.720C>T	c.(718-720)taC>taT	p.Y240Y	SYNJ2_ENST00000367122.2_Silent_p.Y240Y|SYNJ2_ENST00000367121.3_Silent_p.Y240Y|SYNJ2_ENST00000449859.2_Silent_p.Y189Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	240	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGATGATTTACATGGACGATG	0.502																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(718-720)taC>taT		synaptojanin 2							151.0	126.0	135.0					6																	158464356		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158464356C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.720C>T	6.37:g.158464356C>T						SYNJ2_ENST00000449859.2_Silent_p.Y189Y|SYNJ2_ENST00000367122.2_Silent_p.Y240Y|SYNJ2_ENST00000367121.3_Silent_p.Y240Y	p.Y240Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	5	795	+			240			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.720C>T	CCDS5254.1																																																																																				0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			4	29	0	0	0	1	0	4	29				
CLIP2	7461	broad.mit.edu	37	7	73770789	73770789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770789G>A	ENST00000395060.1	+	4	853	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	CLIP2_ENST00000361545.5_Missense_Mutation_p.V285M|CLIP2_ENST00000223398.6_Missense_Mutation_p.V285M			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	285						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCACAAAGTGATCCGTAT	0.587																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(853-855)Gtg>Atg		CAP-GLY domain containing linker protein 2							132.0	112.0	119.0					7																	73770789		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73770789G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.853G>A	7.37:g.73770789G>A	ENSP00000378500:p.Val285Met					CLIP2_ENST00000361545.5_Missense_Mutation_p.V285M|CLIP2_ENST00000395060.1_Missense_Mutation_p.V285M	p.V285M	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			5	1180	+			285					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.853G>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837083	0.91117	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.78003	-1.14;-1.14;-1.14	5.1	5.1	0.69264	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.92224	0.7534	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94560	0.7761	10	0.87932	D	0	-34.0416	17.2521	0.87045	0.0:0.0:1.0:0.0	.	285;285	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	M	285	ENSP00000223398:V285M;ENSP00000355151:V285M;ENSP00000378500:V285M	ENSP00000223398:V285M	V	+	1	0	CLIP2	73408725	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.245000	0.95431	2.644000	0.89710	0.561000	0.74099	GTG		0.587	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		9	94	0	0	0	1	0	9	94				
MTCL1	23255	broad.mit.edu	37	18	8783532	8783532	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8783532A>G	ENST00000306329.11	+	5	1502	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	SOGA2_ENST00000400050.3_Missense_Mutation_p.D141G|SOGA2_ENST00000517570.1_Missense_Mutation_p.D141G|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Missense_Mutation_p.D141G																							TGGCAGGATGACAGTGCCGAT	0.522																																						ENST00000359865.3																			0											c.(421-423)gAc>gGc		SOGA family member 2							34.0	37.0	36.0					18																	8783532		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8783532A>G																												ENST00000306329.11:c.1502A>G	18.37:g.8783532A>G	ENSP00000305027:p.Asp501Gly					SOGA2_ENST00000400050.3_Missense_Mutation_p.D141G|SOGA2_ENST00000306329.11_Missense_Mutation_p.D501G|SOGA2_ENST00000517570.1_Missense_Mutation_p.D141G|SOGA2_ENST00000306285.7_5'UTR	p.D141G	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	564	+			492						Missense_Mutation	SNP	ENST00000306329.11	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	A	20.7	4.027286	0.75390	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.78595	-1.19;-1.19;-1.19	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000063	D	0.88262	0.6389	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89036	0.3445	10	0.59425	D	0.04	-43.0297	16.4343	0.83869	1.0:0.0:0.0:0.0	.	141	Q9Y4B5-3	.	G	162;141;141;141	ENSP00000429556:D141G;ENSP00000352927:D141G;ENSP00000382924:D141G	ENSP00000305027:D162G	D	+	2	0	CCDC165	8773532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.285000	0.76669	0.528000	0.53228	GAC		0.522	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			5	7	0	0	0	1	0	5	7				
ANGPTL7	10218	broad.mit.edu	37	1	11249979	11249979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11249979C>T	ENST00000376819.3	+	1	582	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	115					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGCAGCTGCAGGCAGCACA	0.562																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(343-345)Cag>Tag		angiopoietin-like 7							80.0	74.0	76.0					1																	11249979		2203	4300	6503	SO:0001587	stop_gained	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11249979C>T	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.343C>T	1.37:g.11249979C>T	ENSP00000366015:p.Gln115*					MTOR_ENST00000361445.4_Intron	p.Q115*	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	1	582	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	115					B2R9B2|F1T0A6|Q4ZGK4	Nonsense_Mutation	SNP	ENST00000376819.3	37	c.343C>T	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	38	6.951258	0.97960	.	.	ENSG00000171819	ENST00000376819	.	.	.	5.21	5.21	0.72293	.	0.065765	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.1544	0.93504	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000366015:Q115X	Q	+	1	0	ANGPTL7	11172566	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.414000	0.80117	2.593000	0.87608	0.655000	0.94253	CAG		0.562	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		21	21	0	0	0	1	0	21	21				
LEO1	123169	broad.mit.edu	37	15	52242105	52242105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52242105G>A	ENST00000299601.5	-	10	1758	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	LEO1_ENST00000315141.5_Silent_p.S506S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	566					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GGTAACTGGCGCTCAGCCCCC	0.517																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	ENST00000299601.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1696-1698)agC>agT		Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							93.0	86.0	88.0					15																	52242105		2195	4293	6488	SO:0001819	synonymous_variant	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52242105G>A	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1698C>T	15.37:g.52242105G>A						LEO1_ENST00000315141.5_Silent_p.S506S	p.S566S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	10	1758	-			566					Q96N99	Silent	SNP	ENST00000299601.5	37	c.1698C>T	CCDS10146.1																																																																																				0.517	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		19	42	0	0	0	1	0	19	42				
FAXDC2	10826	broad.mit.edu	37	5	154200010	154200010	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154200010G>A	ENST00000326080.5	-	9	1291	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	FAXDC2_ENST00000517938.1_Silent_p.L267L	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	290					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										AGCACACCCAGCACCCCATAG	0.577																																						ENST00000326080.5																			0											c.(868-870)Ctg>Ttg		fatty acid hydroxylase domain containing 2							75.0	74.0	74.0					5																	154200010		2066	4224	6290	SO:0001819	synonymous_variant	10826							g.chr5:154200010G>A	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.868C>T	5.37:g.154200010G>A						FAXDC2_ENST00000517938.1_Silent_p.L267L	p.L290L	NM_032385.3	NP_115761.2					9	1291	-								B4DIE1|Q9BSX6|Q9H8C7	Silent	SNP	ENST00000326080.5	37	c.868C>T	CCDS43390.1																																																																																				0.577	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		22	39	0	0	0	1	0	22	39				
MTFMT	123263	broad.mit.edu	37	15	65308798	65308798	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65308798T>G	ENST00000220058.4	-	6	802	c.789A>C	c.(787-789)agA>agC	p.R263S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	263						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACGGTAAAGTCTGAATATTT	0.348																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(787-789)agA>agC		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						155.0	152.0	153.0					15																	65308798		1827	4091	5918	SO:0001583	missense	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65308798T>G	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.789A>C	15.37:g.65308798T>G	ENSP00000220058:p.Arg263Ser						p.R263S	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			6	802	-			263					B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	c.789A>C	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819352	0.50633	.	.	ENSG00000103707	ENST00000220058	T	0.50548	0.74	5.76	1.06	0.20224	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.114268	0.64402	D	0.000011	T	0.57373	0.2049	M	0.69248	2.105	0.36974	D	0.893971	D	0.76494	0.999	D	0.70935	0.971	T	0.60835	-0.7184	10	0.87932	D	0	-12.8285	4.0818	0.09929	0.1522:0.3149:0.0:0.533	.	263	Q96DP5	FMT_HUMAN	S	263	ENSP00000220058:R263S	ENSP00000220058:R263S	R	-	3	2	MTFMT	63095851	0.999000	0.42202	0.996000	0.52242	0.530000	0.34684	0.345000	0.19979	0.455000	0.26910	0.460000	0.39030	AGA		0.348	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		34	71	0	0	0	1	0	34	71				
THSD4	79875	broad.mit.edu	37	15	71952960	71952960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71952960C>T	ENST00000355327.3	+	8	1378	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	THSD4_ENST00000261862.6_Missense_Mutation_p.S415L|THSD4_ENST00000357769.4_Missense_Mutation_p.S55L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	415					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGGTTGTGTCGGGCGTGTTT	0.547																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1243-1245)tCg>tTg		thrombospondin, type I, domain containing 4							137.0	144.0	142.0					15																	71952960		1982	4168	6150	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71952960C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1244C>T	15.37:g.71952960C>T	ENSP00000347484:p.Ser415Leu					THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.S415L|THSD4_ENST00000357769.4_Missense_Mutation_p.S55L	p.S415L			Q6ZMP0	THSD4_HUMAN			8	1378	+			415					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1244C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	31	5.101116	0.94245	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.68765	-0.35;-0.35;0.62	4.77	4.77	0.60923	ADAM-TS Spacer 1 (1);	1.255030	0.05404	N	0.541184	D	0.85699	0.5757	M	0.85777	2.775	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;0.996;1.0;0.999	D;P;D;D	0.87578	0.998;0.771;0.959;0.956	T	0.76127	-0.3073	10	0.54805	T	0.06	.	15.6624	0.77197	0.0:1.0:0.0:0.0	.	55;55;415;415	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	L	415;415;55;55	ENSP00000347484:S415L;ENSP00000261862:S415L;ENSP00000350413:S55L	ENSP00000261862:S415L	S	+	2	0	THSD4	69740014	1.000000	0.71417	0.914000	0.36105	0.960000	0.62799	5.795000	0.69074	2.362000	0.80069	0.655000	0.94253	TCG		0.547	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		64	86	0	0	0	1	0	64	86				
FMOD	2331	broad.mit.edu	37	1	203316873	203316873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203316873G>A	ENST00000354955.4	-	2	989	c.526C>T	c.(526-528)Cga>Tga	p.R176*	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	176					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAGGGATCGAGGCAGGGGA	0.597																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(526-528)Cga>Tga		fibromodulin							120.0	123.0	122.0					1																	203316873		2203	4300	6503	SO:0001587	stop_gained	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316873G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.526C>T	1.37:g.203316873G>A	ENSP00000347041:p.Arg176*					FMOD_ENST00000464898.1_5'UTR	p.R176*	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	989	-			176					Q15331|Q8IV47	Nonsense_Mutation	SNP	ENST00000354955.4	37	c.526C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	40	7.946442	0.98574	.	.	ENSG00000122176	ENST00000435105;ENST00000354955;ENST00000539467	.	.	.	5.18	3.18	0.36537	.	0.201351	0.40908	D	0.000988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7448	12.9393	0.58333	0.0:0.0:0.7069:0.2931	.	.	.	.	X	163;176;156	.	ENSP00000347041:R176X	R	-	1	2	FMOD	201583496	0.001000	0.12720	0.723000	0.30687	0.996000	0.88848	0.788000	0.26872	1.138000	0.42230	0.655000	0.94253	CGA		0.597	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		5	191	0	0	0	1	0	5	191				
LRP5	4041	broad.mit.edu	37	11	68216504	68216504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68216504C>T	ENST00000294304.7	+	23	4920	c.4814C>T	c.(4813-4815)cCg>cTg	p.P1605L	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1605	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTCTTCCCGCCCCCTCCG	0.617																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4813-4815)cCg>cTg		low density lipoprotein receptor-related protein 5							37.0	40.0	39.0					11																	68216504		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216504C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4814C>T	11.37:g.68216504C>T	ENSP00000294304:p.Pro1605Leu					LRP5_ENST00000529481.1_3'UTR	p.P1605L	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			23	4920	+			1605			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4814C>T	CCDS8181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.564767|3.564767	0.65651|0.65651	.|.	.|.	ENSG00000162337|ENSG00000162337	ENST00000294304|ENST00000529702	D|.	0.96200|.	-3.94|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.45867|.	U|.	0.000327|.	T|T	0.75481|0.75481	0.3855|0.3855	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	P;P|.	0.62813|.	0.907;0.907|.	T|T	0.76580|0.76580	-0.2907|-0.2907	10|5	0.72032|.	D|.	0.01|.	.|.	17.5324|17.5324	0.87818|0.87818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1605;1605|.	Q9UES7;O75197|.	.;LRP5_HUMAN|.	L|C	1605|162	ENSP00000294304:P1605L|.	ENSP00000294304:P1605L|.	P|R	+|+	2|1	0|0	LRP5|LRP5	67973080|67973080	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.050000|0.050000	0.14768|0.14768	7.228000|7.228000	0.78079|0.78079	2.367000|2.367000	0.80283|0.80283	0.555000|0.555000	0.69702|0.69702	CCG|CGC		0.617	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		20	31	0	0	0	1	0	20	31				
TCOF1	6949	broad.mit.edu	37	5	149759187	149759187	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149759187G>T	ENST00000504761.2	+	17	2751	c.2751G>T	c.(2749-2751)ggG>ggT	p.G917G	TCOF1_ENST00000323668.7_Silent_p.G840G|TCOF1_ENST00000439160.2_Silent_p.G917G|TCOF1_ENST00000377797.3_Silent_p.G917G|TCOF1_ENST00000394269.3_Silent_p.G917G|TCOF1_ENST00000513346.1_Silent_p.G917G|TCOF1_ENST00000445265.2_Silent_p.G840G|TCOF1_ENST00000451292.1_Silent_p.G917G|TCOF1_ENST00000506063.1_3'UTR			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	917					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCTCCTGGGAAGACAGGGC	0.637																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(2749-2751)ggG>ggT		Treacher Collins-Franceschetti syndrome 1							58.0	65.0	63.0					5																	149759187		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149759187G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2751G>T	5.37:g.149759187G>T						TCOF1_ENST00000439160.2_Silent_p.G917G|TCOF1_ENST00000445265.2_Silent_p.G840G|TCOF1_ENST00000377797.3_Silent_p.G917G|TCOF1_ENST00000394269.3_Silent_p.G917G|TCOF1_ENST00000323668.7_Silent_p.G840G|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000504761.2_Silent_p.G917G|TCOF1_ENST00000513346.1_Silent_p.G917G	p.G917G			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2859	+		all_hematologic(541;0.224)	917					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.2751G>T	CCDS54936.1																																																																																				0.637	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		5	63	1	0	0.014758	1	0.0152625	5	63				
HR	55806	broad.mit.edu	37	8	21984708	21984708	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21984708C>A	ENST00000381418.4	-	3	2727	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I	HR_ENST00000312841.8_Missense_Mutation_p.S416I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	416					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GACCTCGGGGCTGCCTGCCCT	0.677																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1246-1248)aGc>aTc		hair growth associated							48.0	58.0	55.0					8																	21984708		2202	4297	6499	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21984708C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1247G>T	8.37:g.21984708C>A	ENSP00000370826:p.Ser416Ile					HR_ENST00000312841.8_Missense_Mutation_p.S416I	p.S416I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2727	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	416					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1247G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461161	0.84317	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.76448	-1.0;-1.02	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	D	0.83248	0.5213	L	0.36672	1.1	0.40761	D	0.983	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.84847	0.0811	10	0.87932	D	0	-24.195	15.6543	0.77121	0.0:1.0:0.0:0.0	.	416;416	O43593-2;O43593	.;HAIR_HUMAN	I	416	ENSP00000370826:S416I;ENSP00000326765:S416I	ENSP00000326765:S416I	S	-	2	0	HR	22040653	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.340000	0.43974	2.767000	0.95098	0.563000	0.77884	AGC		0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			6	74	1	0	5.9392e-07	1	6.91975e-07	6	74				
LPHN2	23266	broad.mit.edu	37	1	82432123	82432123	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82432123C>A	ENST00000370728.1	+	15	2812	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	LPHN2_ENST00000370723.1_Missense_Mutation_p.L710M|LPHN2_ENST00000370713.1_Missense_Mutation_p.L710M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.L723M|LPHN2_ENST00000271029.4_Missense_Mutation_p.L723M|LPHN2_ENST00000370725.1_Missense_Mutation_p.L723M|LPHN2_ENST00000394879.1_Missense_Mutation_p.L710M|LPHN2_ENST00000370715.1_Missense_Mutation_p.L710M|LPHN2_ENST00000359929.3_Missense_Mutation_p.L710M|LPHN2_ENST00000319517.6_Missense_Mutation_p.L710M|LPHN2_ENST00000370721.1_Missense_Mutation_p.L648M|LPHN2_ENST00000335786.5_Missense_Mutation_p.L723M|LPHN2_ENST00000370727.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370717.2_Missense_Mutation_p.L723M			O95490	LPHN2_HUMAN	latrophilin 2	723					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCGGAGCCTGGGACAGTT	0.378																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2167-2169)Ctg>Atg		latrophilin 2							88.0	85.0	86.0					1																	82432123		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82432123C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2167C>A	1.37:g.82432123C>A	ENSP00000359763:p.Leu723Met					LPHN2_ENST00000370727.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370715.1_Missense_Mutation_p.L710M|LPHN2_ENST00000359929.3_Missense_Mutation_p.L710M|LPHN2_ENST00000370717.2_Missense_Mutation_p.L723M|LPHN2_ENST00000370713.1_Missense_Mutation_p.L710M|LPHN2_ENST00000370725.1_Missense_Mutation_p.L723M|LPHN2_ENST00000319517.6_Missense_Mutation_p.L710M|LPHN2_ENST00000271029.4_Missense_Mutation_p.L723M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.L723M|LPHN2_ENST00000335786.5_Missense_Mutation_p.L723M|LPHN2_ENST00000370721.1_Missense_Mutation_p.L648M|LPHN2_ENST00000370723.1_Missense_Mutation_p.L710M|LPHN2_ENST00000394879.1_Missense_Mutation_p.L710M	p.L723M			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	15	2812	+			723					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2167C>A		.	.	.	.	.	.	.	.	.	.	C	17.54	3.415012	0.62511	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.94	1.57	0.23409	.	0.000000	0.64402	D	0.000001	T	0.32793	0.0841	M	0.67953	2.075	0.48632	D	0.999685	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.13953	-1.0490	10	0.62326	D	0.03	.	9.7799	0.40643	0.0:0.567:0.0:0.433	.	710;710;710	O95490-3;O95490-4;O95490-2	.;.;.	M	648;723;723;723;723;710;710;710;710;710;723;710;723;723	ENSP00000359756:L648M;ENSP00000359763:L723M;ENSP00000359765:L723M;ENSP00000359762:L723M;ENSP00000359760:L723M;ENSP00000359758:L710M;ENSP00000353006:L710M;ENSP00000359750:L710M;ENSP00000359748:L710M;ENSP00000322270:L710M;ENSP00000359752:L723M;ENSP00000378344:L710M;ENSP00000271029:L723M;ENSP00000337306:L723M	ENSP00000271029:L723M	L	+	1	2	LPHN2	82204711	0.989000	0.36119	0.997000	0.53966	0.996000	0.88848	1.519000	0.35888	0.431000	0.26258	0.561000	0.74099	CTG		0.378	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		7	110	1	0	0.00198382	1	0.00210581	7	110				
APOB	338	broad.mit.edu	37	2	21238060	21238060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21238060G>T	ENST00000233242.1	-	23	3708	c.3581C>A	c.(3580-3582)cCt>cAt	p.P1194H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1194					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATCCACAGGGAAATTGGA	0.408																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3580-3582)cCt>cAt		apolipoprotein B	Atorvastatin(DB01076)						117.0	112.0	114.0					2																	21238060		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21238060G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3581C>A	2.37:g.21238060G>T	ENSP00000233242:p.Pro1194His						p.P1194H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			23	3708	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1194					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3581C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336891	0.60963	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00848	5.62	5.08	5.08	0.68730	.	0.112962	0.40818	N	0.001015	T	0.04907	0.0132	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.10567	-1.0624	10	0.87932	D	0	.	14.8987	0.70661	0.0:0.0:0.8563:0.1437	.	1194	P04114	APOB_HUMAN	H	1194	ENSP00000233242:P1194H	ENSP00000233242:P1194H	P	-	2	0	APOB	21091565	0.963000	0.33076	0.967000	0.41034	0.789000	0.44602	1.584000	0.36589	2.763000	0.94921	0.650000	0.86243	CCT		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			33	64	1	0	1.62565e-12	1	2.04655e-12	33	64				
TENM2	57451	broad.mit.edu	37	5	167642224	167642224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167642224C>T	ENST00000518659.1	+	21	4064	c.4025C>T	c.(4024-4026)gCc>gTc	p.A1342V	TENM2_ENST00000520394.1_Missense_Mutation_p.A1103V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1341V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1221V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1166V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1342					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTGATGAAGCCCGCTGCGGG	0.557																																						ENST00000519204.1																			0											c.(3661-3663)gCc>gTc		teneurin transmembrane protein 2							104.0	110.0	108.0					5																	167642224		1962	4136	6098	SO:0001583	missense	57451							g.chr5:167642224C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4025C>T	5.37:g.167642224C>T	ENSP00000429430:p.Ala1342Val					TENM2_ENST00000520394.1_Missense_Mutation_p.A1103V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1166V|TENM2_ENST00000518659.1_Missense_Mutation_p.A1342V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1341V	p.A1221V							20	3780	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3662C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.222470	0.79464	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89746	-2.09;-2.07;-2.18;-2.54;-2.56	5.1	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.89150	0.6633	L	0.47716	1.5	0.48511	D	0.999664	B;B;B	0.33739	0.422;0.297;0.13	P;B;B	0.44623	0.455;0.158;0.075	D	0.88370	0.2994	10	0.45353	T	0.12	.	14.9734	0.71251	0.0:0.8571:0.1429:0.0	.	1341;1342;1103	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1342;1341;1221;1103;1166	ENSP00000429430:A1342V;ENSP00000438635:A1341V;ENSP00000428964:A1221V;ENSP00000427874:A1103V;ENSP00000384905:A1166V	ENSP00000384905:A1166V	A	+	2	0	ODZ2	167574802	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.315000	0.59172	2.368000	0.80403	0.655000	0.94253	GCC		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	94	0	0	0	1	0	5	94				
CYP26B1	56603	broad.mit.edu	37	2	72359652	72359652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72359652C>T	ENST00000001146.2	-	6	1446	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CYP26B1_ENST00000546307.1_Missense_Mutation_p.D340N|CYP26B1_ENST00000412253.1_Missense_Mutation_p.D224N	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	415					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTGAAGCGATCGGGGTCGAAC	0.617																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1243-1245)Gat>Aat		cytochrome P450, family 26, subfamily B, polypeptide 1							58.0	50.0	53.0					2																	72359652		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359652C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1243G>A	2.37:g.72359652C>T	ENSP00000001146:p.Asp415Asn					CYP26B1_ENST00000412253.1_Missense_Mutation_p.D224N|CYP26B1_ENST00000546307.1_Missense_Mutation_p.D340N	p.D415N	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1446	-			415					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1243G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	36	5.627500	0.96671	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.70399	-0.48;-0.48;-0.48	5.12	5.12	0.69794	.	0.045424	0.85682	D	0.000000	T	0.74981	0.3788	M	0.75615	2.305	0.80722	D	1	P;P;P	0.51933	0.949;0.52;0.659	P;B;B	0.46208	0.507;0.327;0.426	T	0.75590	-0.3265	10	0.36615	T	0.2	-2.802	17.6654	0.88201	0.0:1.0:0.0:0.0	.	340;398;415	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	N	415;224;340	ENSP00000001146:D415N;ENSP00000401465:D224N;ENSP00000443304:D340N	ENSP00000001146:D415N	D	-	1	0	CYP26B1	72213160	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	7.651000	0.83577	2.837000	0.97791	0.655000	0.94253	GAT		0.617	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		12	20	0	0	0	1	0	12	20				
AGAP3	116988	broad.mit.edu	37	7	150840969	150840969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150840969G>A	ENST00000463381.1	+	16	2178	c.1682G>A	c.(1681-1683)aGa>aAa	p.R561K	AGAP3_ENST00000397238.2_Missense_Mutation_p.R892K	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	856	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCCCCAACAGAGAGCCTGCC	0.632																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2674-2676)aGa>aAa		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							52.0	55.0	54.0					7																	150840969		1998	4175	6173	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840969G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1682G>A	7.37:g.150840969G>A	ENSP00000418016:p.Arg561Lys					AGAP3_ENST00000463381.1_Missense_Mutation_p.R561K	p.R892K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			18	2675	+			856					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2675G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.56|10.56	1.383724|1.383724	0.25031|0.25031	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.68624	.|4.16;-0.34	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|1.121850	.|0.06541	.|N	.|0.743233	T|T	0.56140|0.56140	0.1965|0.1965	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.27732	.|0.081;0.118;0.187;0.118	.|B;B;B;B	.|0.29716	.|0.028;0.033;0.106;0.033	T|T	0.36311|0.36311	-0.9753|-0.9753	5|10	.|0.07644	.|T	.|0.81	.|.	10.1246|10.1246	0.42641|0.42641	0.0:0.1467:0.7022:0.1511|0.0:0.1467:0.7022:0.1511	.|.	.|856;391;892;561	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	K|K	385|561;391;892;856	.|ENSP00000418016:R561K;ENSP00000380413:R892K	.|ENSP00000334157:R856K	E|R	+|+	1|2	0|0	AGAP3|AGAP3	150471902|150471902	0.757000|0.757000	0.28394|0.28394	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	0.084000|0.084000	0.14891|0.14891	2.375000|2.375000	0.81037|0.81037	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.632	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		47	31	0	0	0	1	0	47	31				
DSCAML1	57453	broad.mit.edu	37	11	117308769	117308769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117308769C>A	ENST00000321322.6	-	25	4455	c.4454G>T	c.(4453-4455)aGc>aTc	p.S1485I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCACTCCTCGCTGTTGTCCAC	0.607																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4453-4455)aGc>aTc		Down syndrome cell adhesion molecule like 1							92.0	68.0	76.0					11																	117308769		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117308769C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4454G>T	11.37:g.117308769C>A	ENSP00000315465:p.Ser1485Ile					DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215I	p.S1485I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	25	4455	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1425			Fibronectin type-III 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4454G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336977	0.81801	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.59364	0.27;0.27	4.17	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73830	0.3637	M	0.73598	2.24	0.53005	D	0.999966	D	0.59767	0.986	P	0.62649	0.905	T	0.78540	-0.2165	9	0.66056	D	0.02	.	17.0825	0.86602	0.0:1.0:0.0:0.0	.	1425	Q8TD84	DSCL1_HUMAN	I	1215;1485;1192	ENSP00000434335:S1215I;ENSP00000315465:S1485I	ENSP00000315465:S1485I	S	-	2	0	DSCAML1	116813979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.913000	0.69957	2.313000	0.78055	0.549000	0.68633	AGC		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		9	19	1	0	0.0135373	1	0.0140872	9	19				
VWA7	80737	broad.mit.edu	37	6	31741095	31741095	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31741095C>T	ENST00000375688.4	-	6	1041	c.841G>A	c.(841-843)Gca>Aca	p.A281T	VWA7_ENST00000375686.3_Missense_Mutation_p.A281T|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.A281T			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	281						extracellular region (GO:0005576)											GCCAGTTTTGCAGCCTGGAGG	0.617																																						ENST00000375686.3																			0											c.(841-843)Gca>Aca		von Willebrand factor A domain containing 7							48.0	45.0	46.0					6																	31741095		2203	4300	6503	SO:0001583	missense	80737					extracellular region		g.chr6:31741095C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.841G>A	6.37:g.31741095C>T	ENSP00000364840:p.Ala281Thr					VWA7_ENST00000375688.4_Missense_Mutation_p.A281T|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.A281T	p.A281T	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			6	1078	-			281					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.841G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921236	0.92249	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.42900	2.17;1.95;0.96	5.92	5.92	0.95590	.	0.111316	0.64402	D	0.000018	T	0.57666	0.2069	M	0.66939	2.045	0.43054	D	0.994662	D	0.76494	0.999	D	0.74023	0.982	T	0.57802	-0.7748	10	0.62326	D	0.03	-13.6744	17.8105	0.88614	0.0:1.0:0.0:0.0	.	281	Q9Y334	G7C_HUMAN	T	281	ENSP00000364840:A281T;ENSP00000364838:A281T;ENSP00000390554:A281T	ENSP00000364838:A281T	A	-	1	0	C6orf27	31849074	0.999000	0.42202	0.990000	0.47175	0.996000	0.88848	3.741000	0.55090	2.809000	0.96659	0.557000	0.71058	GCA		0.617	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		6	7	0	0	0	1	0	6	7				
CENPJ	55835	broad.mit.edu	37	13	25487072	25487072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25487072A>G	ENST00000381884.4	-	2	277	c.92T>C	c.(91-93)tTa>tCa	p.L31S	CENPJ_ENST00000545981.1_Missense_Mutation_p.L31S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	31					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCCACGATTTAATATGACCCC	0.448																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(91-93)tTa>tCa		centromere protein J							66.0	62.0	63.0					13																	25487072		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25487072A>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.92T>C	13.37:g.25487072A>G	ENSP00000371308:p.Leu31Ser					CENPJ_ENST00000545981.1_Missense_Mutation_p.L31S	p.L31S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	277	-		Lung SC(185;0.0225)|Breast(139;0.0602)	31					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.92T>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003647	0.74932	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.15017	2.46;2.46	5.28	5.28	0.74379	.	0.000000	0.49916	D	0.000127	T	0.41581	0.1165	M	0.76002	2.32	0.27750	N	0.944176	D	0.89917	1.0	D	0.85130	0.997	T	0.36817	-0.9732	10	0.87932	D	0	.	12.7331	0.57208	1.0:0.0:0.0:0.0	.	31	Q9HC77	CENPJ_HUMAN	S	31	ENSP00000371308:L31S;ENSP00000441090:L31S	ENSP00000371308:L31S	L	-	2	0	CENPJ	24385072	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.321000	0.59209	2.006000	0.58801	0.533000	0.62120	TTA		0.448	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		23	33	0	0	0	1	0	23	33				
HIST1H3I	8354	broad.mit.edu	37	6	27839709	27839709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27839709G>A	ENST00000328488.2	-	1	390	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	129					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGATGCGGCGCGCAAGCTGG	0.532																																						ENST00000328488.2																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(385-387)Cgc>Tgc		histone cluster 1, H3i							140.0	155.0	150.0					6																	27839709		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839709G>A	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.385C>T	6.37:g.27839709G>A	ENSP00000329554:p.Arg129Cys						p.R129C	NM_003533.2	NP_003524.1	P68431	H31_HUMAN			1	390	-			129					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.385C>T	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982714	0.53827	.	.	ENSG00000182572	ENST00000328488	T	0.70164	-0.46	4.12	4.12	0.48240	.	.	.	.	.	T	0.73659	0.3615	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.76515	-0.2931	6	0.62326	D	0.03	.	16.6345	0.85043	0.0:0.0:1.0:0.0	.	.	.	.	C	129	ENSP00000329554:R129C	ENSP00000329554:R129C	R	-	1	0	HIST1H3I	27947688	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	7.477000	0.81069	2.580000	0.87095	0.650000	0.86243	CGC		0.532	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		97	141	0	0	0	1	0	97	141				
IBTK	25998	broad.mit.edu	37	6	82912354	82912354	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82912354T>G	ENST00000306270.7	-	18	3169	c.2620A>C	c.(2620-2622)Aag>Cag	p.K874Q	IBTK_ENST00000510291.1_Missense_Mutation_p.K874Q|IBTK_ENST00000503631.1_Missense_Mutation_p.K673Q	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	874					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCAGCATTCTTCAGGGTAACT	0.328																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2620-2622)Aag>Cag		inhibitor of Bruton agammaglobulinemia tyrosine kinase							94.0	96.0	95.0					6																	82912354		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82912354T>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2620A>C	6.37:g.82912354T>G	ENSP00000305721:p.Lys874Gln					IBTK_ENST00000510291.1_Missense_Mutation_p.K874Q|IBTK_ENST00000503631.1_Missense_Mutation_p.K673Q	p.K874Q	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	18	3169	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	874					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2620A>C	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404935	0.83230	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.30448	1.87;1.53;1.87	5.56	5.56	0.83823	.	0.095006	0.64402	D	0.000001	T	0.47507	0.1449	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.991;0.998;0.983;0.998	T	0.52571	-0.8558	10	0.62326	D	0.03	-12.7304	14.2866	0.66249	0.0:0.0:0.0:1.0	.	673;874;874;874	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	Q	874;673;874	ENSP00000305721:K874Q;ENSP00000422762:K673Q;ENSP00000426405:K874Q	ENSP00000305721:K874Q	K	-	1	0	IBTK	82969073	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.641000	0.83368	2.105000	0.64084	0.477000	0.44152	AAG		0.328	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		46	63	0	0	0	1	0	46	63				
MDGA2	161357	broad.mit.edu	37	14	47530712	47530712	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530712C>T	ENST00000399232.2	-	7	1422	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	MDGA2_ENST00000426342.1_Missense_Mutation_p.R124H|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124H|MDGA2_ENST00000439988.3_Missense_Mutation_p.R422H	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCACCTCACGGCCAATCTG	0.383																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(370-372)cGt>cAt		MAM domain containing glycosylphosphatidylinositol anchor 2							80.0	73.0	76.0					14																	47530712		1874	4092	5966	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530712C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1058G>A	14.37:g.47530712C>T	ENSP00000382178:p.Arg353His					MDGA2_ENST00000439988.2_Missense_Mutation_p.R353H|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124H|MDGA2_ENST00000399232.2_Missense_Mutation_p.R422H	p.R124H	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1117	-			353			Ig-like 1.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.371G>A		.	.	.	.	.	.	.	.	.	.	C	29.7	5.024361	0.93462	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.52532	U	0.000064	T	0.57562	0.2062	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.56535	-0.7963	10	0.66056	D	0.02	.	18.9858	0.92769	0.0:1.0:0.0:0.0	.	353	Q7Z553	MDGA2_HUMAN	H	353;124;422;124	ENSP00000400011:R353H;ENSP00000405456:R124H;ENSP00000382178:R422H;ENSP00000349925:R124H	ENSP00000349925:R124H	R	-	2	0	MDGA2	46600462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.832000	0.97577	0.655000	0.94253	CGT		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		19	53	0	0	0	1	0	19	53				
ECE2	9718	broad.mit.edu	37	3	184007445	184007445	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184007445A>C	ENST00000402825.3	+	13	1844	c.1844A>C	c.(1843-1845)gAt>gCt	p.D615A	ECE2_ENST00000359140.4_Missense_Mutation_p.D468A|ECE2_ENST00000357474.5_Missense_Mutation_p.D543A|ECE2_ENST00000404464.3_Missense_Mutation_p.D497A|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	615	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCATCTATGATATGATTGGT	0.493											OREG0015946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(1843-1845)gAt>gCt		endothelin converting enzyme 2							131.0	126.0	128.0					3																	184007445		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184007445A>C	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1844A>C	3.37:g.184007445A>C	ENSP00000384223:p.Asp615Ala		OREG0015946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D497A|ECE2_ENST00000359140.4_Missense_Mutation_p.D468A|ECE2_ENST00000357474.5_Missense_Mutation_p.D543A	p.D615A	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1844	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		615			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1844A>C	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704547	0.88924	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.19	5.19	0.71726	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	M	0.71296	2.17	0.80722	D	1	P;D;D;B;D;D;D	0.64830	0.866;0.975;0.975;0.109;0.969;0.969;0.994	P;P;P;B;P;P;D	0.66602	0.755;0.902;0.902;0.157;0.842;0.842;0.945	T	0.78275	-0.2267	10	0.24483	T	0.36	-27.9921	14.0109	0.64495	1.0:0.0:0.0:0.0	.	217;468;486;497;543;468;615	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	A	615;468;497;543;489	ENSP00000384223:D615A;ENSP00000352052:D468A;ENSP00000385846:D497A;ENSP00000350066:D543A;ENSP00000398444:D489A	ENSP00000350066:D543A	D	+	2	0	ECE2	185490139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.752000	0.91632	2.186000	0.69663	0.448000	0.29417	GAT		0.493	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		3	59	0	0	0	1	0	3	59				
TTLL12	23170	broad.mit.edu	37	22	43568470	43568470	+	Missense_Mutation	SNP	G	G	A	rs11554504		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43568470G>A	ENST00000216129.6	-	10	1495	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	478	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CTCACTGACCGCAGCAGCACG	0.577																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(1432-1434)Cgg>Tgg		tubulin tyrosine ligase-like family, member 12							213.0	156.0	175.0					22																	43568470		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43568470G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1432C>T	22.37:g.43568470G>A	ENSP00000216129:p.Arg478Trp						p.R478W	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			10	1495	-		Ovarian(80;0.221)|Glioma(61;0.222)	478			TTL.		Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.1432C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916112	0.73098	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.06449	3.3	5.31	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.07083	-1.0791	10	0.72032	D	0.01	-11.8728	13.6576	0.62348	0.0:0.0:0.7184:0.2815	rs11554504;rs11554504	478;478	B1AH89;Q14166	.;TTL12_HUMAN	W	478	ENSP00000216129:R478W	ENSP00000216129:R478W	R	-	1	2	TTLL12	41898414	1.000000	0.71417	0.987000	0.45799	0.532000	0.34746	6.062000	0.71155	1.186000	0.42985	0.561000	0.74099	CGG		0.577	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		5	40	0	0	0	1	0	5	40				
RUNDC3A	10900	broad.mit.edu	37	17	42392184	42392184	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42392184C>T	ENST00000426726.3	+	5	814	c.540C>T	c.(538-540)atC>atT	p.I180I	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.I180I|RUNDC3A_ENST00000590941.1_Silent_p.I175I	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	180	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGAGCGCCATCGACTTCAGGT	0.612																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(538-540)atC>atT		RUN domain containing 3A							56.0	59.0	58.0					17																	42392184		2057	4202	6259	SO:0001819	synonymous_variant	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42392184C>T	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.540C>T	17.37:g.42392184C>T						RUNDC3A_ENST00000590941.1_Silent_p.I175I|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.I180I	p.I180I	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	5	814	+		Prostate(33;0.0233)	180			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	c.540C>T	CCDS45698.1																																																																																				0.612	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		7	18	0	0	0	1	0	7	18				
ZSCAN21	7589	broad.mit.edu	37	7	99654957	99654957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99654957C>T	ENST00000292450.4	+	2	492	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.P110S|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.P110S|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	110	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGCATTGCCCGGAGAGCGC	0.592																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(328-330)Ccg>Tcg		zinc finger and SCAN domain containing 21							32.0	33.0	33.0					7																	99654957		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654957C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.328C>T	7.37:g.99654957C>T	ENSP00000292450:p.Pro110Ser					ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.P110S|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.P110S	p.P110S	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	492	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		110			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.328C>T	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357117	0.61293	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	4.77	4.77	0.60923	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.33092	N	0.005286	T	0.39118	0.1066	H	0.97051	3.93	0.09310	N	0.999991	P;D	0.89917	0.757;1.0	P;D	0.83275	0.558;0.996	T	0.50154	-0.8861	10	0.72032	D	0.01	.	9.0981	0.36651	0.0:0.9024:0.0:0.0976	.	110;110	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	S	110;110;110;110;85	ENSP00000441212:P110S;ENSP00000292450:P110S;ENSP00000390960:P110S;ENSP00000404207:P110S	ENSP00000292450:P110S	P	+	1	0	ZSCAN21	99492893	0.690000	0.27699	0.843000	0.33291	0.972000	0.66771	2.542000	0.45744	2.634000	0.89283	0.655000	0.94253	CCG		0.592	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		7	25	0	0	0	1	0	7	25				
EHHADH	1962	broad.mit.edu	37	3	184910836	184910836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184910836G>T	ENST00000231887.3	-	7	1425	c.1350C>A	c.(1348-1350)taC>taA	p.Y450*	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Nonsense_Mutation_p.Y354*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	450	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGGGGGAAGAGTATTGGCTGG	0.428																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1348-1350)taC>taA		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						96.0	99.0	98.0					3																	184910836		2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910836G>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1350C>A	3.37:g.184910836G>T	ENSP00000231887:p.Tyr450*					EHHADH_ENST00000456310.1_Nonsense_Mutation_p.Y354*	p.Y450*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1425	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		450			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.1350C>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	38	6.870994	0.97901	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	.	.	.	5.91	3.82	0.43975	.	0.505288	0.21590	N	0.072115	.	.	.	.	.	.	0.50313	D	0.999868	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-1.0475	10.0182	0.42027	0.1437:0.119:0.7373:0.0	.	.	.	.	X	450;450;354	.	ENSP00000231887:Y450X	Y	-	3	2	EHHADH	186393530	0.922000	0.31269	0.928000	0.36995	0.893000	0.52053	0.311000	0.19380	1.510000	0.48803	0.655000	0.94253	TAC		0.428	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			14	62	1	0	1.36491e-13	1	1.73287e-13	14	62				
LONRF3	79836	broad.mit.edu	37	X	118147045	118147045	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118147045T>G	ENST00000371628.3	+	9	1886	c.1855T>G	c.(1855-1857)Ttc>Gtc	p.F619V	LONRF3_ENST00000304778.7_Missense_Mutation_p.F578V|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.F363V	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	619	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AAATGTTCAATTCTTTGCTGA	0.493																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1732-1734)Ttc>Gtc		LON peptidase N-terminal domain and ring finger 3							135.0	133.0	134.0					X																	118147045		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118147045T>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1855T>G	X.37:g.118147045T>G	ENSP00000360690:p.Phe619Val					LONRF3_ENST00000422289.2_Missense_Mutation_p.F363V|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.F578V|LONRF3_ENST00000371628.3_Missense_Mutation_p.F619V	p.F578V			Q496Y0	LONF3_HUMAN			8	1895	+			619			Lon.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1732T>G	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.3|23.3	4.402046|4.402046	0.83120|0.83120	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Peptidase S16, lon N-terminal (1);PUA-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76652|0.76652	0.4017|0.4017	M|M	0.81341|0.81341	2.54|2.54	0.50171|0.50171	D|D	0.999853|0.999853	D;P;D|.	0.67145|.	0.988;0.934;0.996|.	D;P;D|.	0.74348|.	0.946;0.889;0.983|.	T|T	0.78306|0.78306	-0.2255|-0.2255	10|5	0.24483|.	T|.	0.36|.	-30.3177|-30.3177	14.2923|14.2923	0.66286|0.66286	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	363;578;619|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	V|S	578;578;619;363|384	ENSP00000360691:F578V;ENSP00000307732:F578V;ENSP00000360690:F619V;ENSP00000408894:F363V|.	ENSP00000307732:F578V|.	F|I	+|+	1|2	0|0	LONRF3|LONRF3	118031073|118031073	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.980000|0.980000	0.70556|0.70556	4.062000|4.062000	0.57492|0.57492	1.973000|1.973000	0.57446|0.57446	0.486000|0.486000	0.48141|0.48141	TTC|ATT		0.493	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		6	194	0	0	0	1	0	6	194				
CAMSAP1	157922	broad.mit.edu	37	9	138713121	138713121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138713121G>A	ENST00000389532.4	-	11	3450	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1140M|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T851M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1129					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGCGGGAGCGTCTCTACACT	0.662																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3385-3387)aCg>aTg		calmodulin regulated spectrin-associated protein 1							46.0	59.0	55.0					9																	138713121		2201	4298	6499	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713121G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3386C>T	9.37:g.138713121G>A	ENSP00000374183:p.Thr1129Met					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1140M|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T851M	p.T1129M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3450	-			1129					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3386C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982618	0.53827	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16897	2.31;2.32;2.31	5.11	0.741	0.18336	.	0.214637	0.47093	D	0.000241	T	0.32585	0.0834	M	0.73962	2.25	0.21064	N	0.999795	D;D	0.54601	0.962;0.967	P;P	0.54238	0.475;0.746	T	0.32052	-0.9921	10	0.87932	D	0	-3.0835	14.587	0.68331	0.0:0.5418:0.347:0.1112	.	1129;1140	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	M	1129;851;1140	ENSP00000374183:T1129M;ENSP00000312463:T851M;ENSP00000386420:T1140M	ENSP00000312463:T851M	T	-	2	0	CAMSAP1	137852942	0.347000	0.24853	0.011000	0.14972	0.905000	0.53344	0.763000	0.26517	-0.058000	0.13177	0.561000	0.74099	ACG		0.662	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		34	49	0	0	0	1	0	34	49				
CELA2B	51032	broad.mit.edu	37	1	15802621	15802621	+	Start_Codon_SNP	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802621A>G	ENST00000375910.3	+	1	26	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	1						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CGGACACACCATGATTAGGAC	0.547																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(1-3)Atg>Gtg		chymotrypsin-like elastase family, member 2B							126.0	108.0	114.0					1																	15802621		2203	4300	6503	SO:0001582	initiator_codon_variant	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15802621A>G		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.1A>G	1.37:g.15802621A>G	ENSP00000365075:p.Met1Val					CELA2B_ENST00000494280.1_Intron	p.M1V	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			1	26	+			1					Q14D16|Q6ISM5|Q96QV5	Translation_Start_Site	SNP	ENST00000375910.3	37	c.1A>G	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549829	0.45383	.	.	ENSG00000215704	ENST00000375910	D	0.87256	-2.23	3.38	0.839	0.18907	.	0.105853	0.38897	U	0.001523	D	0.91175	0.7220	.	.	.	0.49299	D	0.999774	D	0.71674	0.998	D	0.81914	0.995	D	0.88159	0.2856	9	0.87932	D	0	.	5.8299	0.18574	0.7522:0.0:0.2478:0.0	.	1	P08218	CEL2B_HUMAN	V	1	ENSP00000365075:M1V	ENSP00000365075:M1V	M	+	1	0	CELA2B	15675208	0.997000	0.39634	0.817000	0.32601	0.093000	0.18481	1.893000	0.39758	0.049000	0.15920	0.155000	0.16302	ATG		0.547	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849	Missense_Mutation	4	48	0	0	0	1	0	4	48				
CABP5	56344	broad.mit.edu	37	19	48543905	48543905	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48543905C>T	ENST00000293255.2	-	3	325	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	65	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		T -> R (in dbSNP:rs34862923).		signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GTTCCATCTCCGTGGGCATGT	0.537																																						ENST00000293255.2																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.(193-195)acG>acA		calcium binding protein 5							118.0	92.0	101.0					19																	48543905		2203	4300	6503	SO:0001819	synonymous_variant	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48543905C>T	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.195G>A	19.37:g.48543905C>T							p.T65T	NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	3	325	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	65		T -> R (in dbSNP:rs34862923).	EF-hand 2.		A0AUY4	Silent	SNP	ENST00000293255.2	37	c.195G>A	CCDS12709.1																																																																																				0.537	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		22	41	0	0	0	1	0	22	41				
LRP4	4038	broad.mit.edu	37	11	46920468	46920468	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46920468G>A	ENST00000378623.1	-	6	905	c.663C>T	c.(661-663)gaC>gaT	p.D221D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	221	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTCAGACTCGTCTGACCAGT	0.627																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(661-663)gaC>gaT		low density lipoprotein receptor-related protein 4							41.0	36.0	38.0					11																	46920468		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920468G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.663C>T	11.37:g.46920468G>A							p.D221D	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	6	905	-			221			LDL-receptor class A 5.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.663C>T	CCDS31478.1																																																																																				0.627	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		13	12	0	0	0	1	0	13	12				
RBBP6	5930	broad.mit.edu	37	16	24578499	24578499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24578499C>A	ENST00000319715.4	+	15	2057	c.1625C>A	c.(1624-1626)tCa>tAa	p.S542*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.S542*|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	542					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCGAAAGATCACAGAGGACT	0.458																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(1624-1626)tCa>tAa		retinoblastoma binding protein 6							151.0	141.0	144.0					16																	24578499		2197	4300	6497	SO:0001587	stop_gained	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24578499C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1625C>A	16.37:g.24578499C>A	ENSP00000317872:p.Ser542*					RBBP6_ENST00000348022.2_Nonsense_Mutation_p.S542*|RBBP6_ENST00000381039.3_Intron	p.S542*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	15	2057	+			542					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	ENST00000319715.4	37	c.1625C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	41	8.640593	0.98897	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	.	.	.	5.8	5.8	0.92144	.	0.000000	0.48286	D	0.000192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9616	20.0522	0.97631	0.0:1.0:0.0:0.0	.	.	.	.	X	542	.	ENSP00000317872:S542X	S	+	2	0	RBBP6	24486000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.683000	0.74533	2.737000	0.93849	0.563000	0.77884	TCA		0.458	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		23	40	1	0	4.26978e-12	1	5.35206e-12	23	40				
HERC1	8925	broad.mit.edu	37	15	64041665	64041665	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64041665G>T	ENST00000443617.2	-	10	2207	c.2120C>A	c.(2119-2121)aCt>aAt	p.T707N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	707					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTTGGTTTAGTAATAGGACC	0.408																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2119-2121)aCt>aAt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							195.0	178.0	183.0					15																	64041665		1867	4104	5971	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64041665G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2120C>A	15.37:g.64041665G>T	ENSP00000390158:p.Thr707Asn						p.T707N	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			10	2207	-			707					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2120C>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805790	0.90623	.	.	ENSG00000103657	ENST00000443617	D	0.84516	-1.86	5.89	5.89	0.94794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	D	0.89178	0.6641	L	0.33710	1.025	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.88046	0.2784	10	0.42905	T	0.14	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	707	Q15751	HERC1_HUMAN	N	707	ENSP00000390158:T707N	ENSP00000390158:T707N	T	-	2	0	HERC1	61828718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.783000	0.95769	0.655000	0.94253	ACT		0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	102	1	0	5.9392e-07	1	6.91975e-07	5	102				
DHRS3	9249	broad.mit.edu	37	1	12638855	12638855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12638855C>T	ENST00000376223.2	-	4	972	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	197					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCCATGAAGGCGAAGGCTGAC	0.622																																						ENST00000376223.2																			0				cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9						c.(589-591)Gcc>Acc		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)						61.0	46.0	51.0					1																	12638855		2203	4300	6503	SO:0001583	missense	9249				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12638855C>T	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.589G>A	1.37:g.12638855C>T	ENSP00000365397:p.Ala197Thr						p.A197T	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	4	972	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	197					B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.589G>A	CCDS146.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309934	0.81247	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;D	0.89875	-2.58;-2.58	5.63	4.71	0.59529	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84261	0.5433	L	0.41124	1.26	0.80722	D	1	P	0.46578	0.88	B	0.37480	0.251	D	0.85701	0.1313	10	0.66056	D	0.02	.	16.6138	0.84901	0.0:0.8698:0.1302:0.0	.	197	O75911	DHRS3_HUMAN	T	197;112	ENSP00000365397:A197T;ENSP00000387903:A112T	ENSP00000365397:A197T	A	-	1	0	DHRS3	12561442	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.479000	0.81095	1.361000	0.45981	0.591000	0.81541	GCC		0.622	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		12	7	0	0	0	1	0	12	7				
PVRL1	5818	broad.mit.edu	37	11	119510623	119510623	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119510623A>T	ENST00000341398.2	-	6	1102	c.1103T>A	c.(1102-1104)tTc>tAc	p.F368Y	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	24					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTTGTACAGGAAGAAGACAGT	0.647																																						ENST00000341398.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1102-1104)tTc>tAc		poliovirus receptor-related 1 (herpesvirus entry mediator C)							43.0	45.0	44.0					11																	119510623		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119510623A>T	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1103T>A	11.37:g.119510623A>T	ENSP00000344974:p.Phe368Tyr					RP11-196E1.3_ENST00000532153.1_RNA	p.F368Y	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1102	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	24					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000341398.2	37	c.1103T>A	CCDS8425.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487774	0.26686	.	.	ENSG00000110400	ENST00000341398	T	0.75260	-0.92	3.7	3.7	0.42460	.	.	.	.	.	T	0.61627	0.2362	L	0.44542	1.39	0.35658	D	0.812275	P	0.34462	0.454	B	0.28553	0.091	T	0.66941	-0.5796	9	0.33940	T	0.23	.	8.9101	0.35548	1.0:0.0:0.0:0.0	.	368	Q15223-2	.	Y	368	ENSP00000344974:F368Y	ENSP00000344974:F368Y	F	-	2	0	PVRL1	119015833	0.273000	0.24181	0.172000	0.22920	0.217000	0.24651	0.864000	0.27926	1.670000	0.50864	0.379000	0.24179	TTC		0.647	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1			12	27	0	0	0	1	0	12	27				
THBS4	7060	broad.mit.edu	37	5	79355669	79355669	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79355669T>C	ENST00000350881.2	+	7	1118	c.928T>C	c.(928-930)Tgt>Cgt	p.C310R	THBS4_ENST00000511733.1_Missense_Mutation_p.C219R|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	310	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGCTTCCAGTGTGGGCCCTG	0.572																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(928-930)Tgt>Cgt		thrombospondin 4							148.0	140.0	143.0					5																	79355669		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79355669T>C		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.928T>C	5.37:g.79355669T>C	ENSP00000339730:p.Cys310Arg					CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.C219R	p.C310R	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	7	1118	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	310			EGF-like 1.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.928T>C	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.540667	0.85917	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98987	-5.3;-5.3	5.81	5.81	0.92471	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.99325	4.515	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97289	0.9923	10	0.87932	D	0	-15.2492	16.1668	0.81768	0.0:0.0:0.0:1.0	.	310	P35443	TSP4_HUMAN	R	310;219	ENSP00000339730:C310R;ENSP00000422298:C219R	ENSP00000339730:C310R	C	+	1	0	THBS4	79391425	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.334000	0.79224	2.210000	0.71456	0.533000	0.62120	TGT		0.572	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			61	118	0	0	0	1	0	61	118				
PKN2	5586	broad.mit.edu	37	1	89271345	89271345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89271345C>T	ENST00000370521.3	+	11	2026	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	PKN2_ENST00000544045.1_Missense_Mutation_p.P230L|PKN2_ENST00000370513.5_Missense_Mutation_p.P508L|PKN2_ENST00000370505.3_Missense_Mutation_p.P399L|PKN2_ENST00000316005.7_Missense_Mutation_p.P556L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	556					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAACTAGCACCTCCAGCTAGG	0.438																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1666-1668)cCt>cTt		protein kinase N2							49.0	47.0	47.0					1																	89271345		1956	4161	6117	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89271345C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1667C>T	1.37:g.89271345C>T	ENSP00000359552:p.Pro556Leu					PKN2_ENST00000316005.7_Missense_Mutation_p.P556L|PKN2_ENST00000370513.5_Missense_Mutation_p.P508L|PKN2_ENST00000544045.1_Missense_Mutation_p.P230L|PKN2_ENST00000370505.3_Missense_Mutation_p.P399L	p.P556L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	11	2026	+		Lung NSC(277;0.123)	556					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1667C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928716	0.34002	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.93	5.02	0.67125	.	0.347080	0.20686	U	0.087555	T	0.14830	0.0358	L	0.46157	1.445	0.49213	D	0.999768	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.03619	-1.1019	10	0.48119	T	0.1	.	11.641	0.51233	0.0:0.8476:0.0:0.1524	.	540;508;556;556	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	L	556;556;399;508;230	ENSP00000359552:P556L;ENSP00000317851:P556L;ENSP00000359536:P399L;ENSP00000359544:P508L;ENSP00000439643:P230L	ENSP00000317851:P556L	P	+	2	0	PKN2	89043933	0.766000	0.28496	0.987000	0.45799	0.985000	0.73830	1.030000	0.30153	1.521000	0.48983	0.591000	0.81541	CCT		0.438	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		15	41	0	0	0	1	0	15	41				
SLC27A5	10998	broad.mit.edu	37	19	59010889	59010889	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59010889T>C	ENST00000263093.2	-	7	1746	c.1637A>G	c.(1636-1638)tAc>tGc	p.Y546C	SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.Y462C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	546					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCGCGGAAGTAGAGGAAGCC	0.662																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1636-1638)tAc>tGc		solute carrier family 27 (fatty acid transporter), member 5							59.0	55.0	56.0					19																	59010889		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010889T>C	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1637A>G	19.37:g.59010889T>C	ENSP00000263093:p.Tyr546Cys					SLC27A5_ENST00000601355.1_Missense_Mutation_p.Y462C	p.Y546C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	7	1746	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	546					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1637A>G	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952822	0.73787	.	.	ENSG00000083807	ENST00000263093	T	0.45668	0.89	5.26	5.26	0.73747	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.90369	3.11	0.39672	D	0.970771	D	0.89917	1.0	D	0.97110	1.0	T	0.76629	-0.2889	10	0.66056	D	0.02	-26.9497	11.8631	0.52478	0.0:0.0:0.0:1.0	.	546	Q9Y2P5	S27A5_HUMAN	C	546	ENSP00000263093:Y546C	ENSP00000263093:Y546C	Y	-	2	0	SLC27A5	63702701	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.727000	0.38095	2.123000	0.65237	0.379000	0.24179	TAC		0.662	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		3	37	0	0	0	1	0	3	37				
TP53BP1	7158	broad.mit.edu	37	15	43707815	43707815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43707815C>T	ENST00000263801.3	-	23	5303	c.5051G>A	c.(5050-5052)cGc>cAc	p.R1684H	TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1639H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1689H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1689H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1684					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGACTTGCGACCTCGCTT	0.498								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5050-5052)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							122.0	105.0	111.0					15																	43707815		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43707815C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5051G>A	15.37:g.43707815C>T	ENSP00000263801:p.Arg1684His					TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1689H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1689H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1639H	p.R1684H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	23	5303	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1684					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5051G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202565	0.94997	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.05649	3.45;3.45;3.54;3.41	5.47	5.47	0.80525	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.00056	-1.2176	10	0.72032	D	0.01	-7.871	18.6826	0.91551	0.0:1.0:0.0:0.0	.	1689;1684;1689;1689	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1684;1689;1639;1689	ENSP00000263801:R1684H;ENSP00000371475:R1689H;ENSP00000371470:R1639H;ENSP00000393497:R1689H	ENSP00000263801:R1684H	R	-	2	0	TP53BP1	41495107	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.579000	0.74036	2.723000	0.93209	0.655000	0.94253	CGC		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			12	91	0	0	0	1	0	12	91				
TRAPPC9	83696	broad.mit.edu	37	8	141381188	141381188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381188C>T	ENST00000438773.2	-	8	1359	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R400H|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.R507H	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	409					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCGGCCACGCGCTTGAAGAA	0.592																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1519-1521)cGc>cAc		trafficking protein particle complex 9							62.0	61.0	61.0					8																	141381188		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381188C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1226G>A	8.37:g.141381188C>T	ENSP00000405060:p.Arg409His					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R400H|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R409H	p.R507H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			8	1534	-			409					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1520G>A	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241659	0.95272	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.65	5.65	0.86999	.	0.100548	0.64402	D	0.000001	T	0.76234	0.3959	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.99;0.993;0.993	T	0.76865	-0.2801	9	0.62326	D	0.03	.	17.9129	0.88939	0.0:1.0:0.0:0.0	.	409;400;507	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	H	507;400;409	.	ENSP00000373978:R400H	R	-	2	0	TRAPPC9	141450370	1.000000	0.71417	0.993000	0.49108	0.813000	0.45954	7.398000	0.79919	2.663000	0.90544	0.455000	0.32223	CGC		0.592	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		16	31	0	0	0	1	0	16	31				
RHOT2	89941	broad.mit.edu	37	16	721185	721185	+	Missense_Mutation	SNP	C	C	T	rs374478062		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:721185C>T	ENST00000315082.4	+	11	965	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	284					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GAGCTGACTGCGGACTATCTC	0.637																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(850-852)gCg>gTg		ras homolog family member T2		C	VAL/ALA	1,4397	2.1+/-5.4	0,1,2198	77.0	74.0	75.0		851	1.6	0.0	16		75	0,8598		0,0,4299	no	missense	RHOT2	NM_138769.1	64	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	284/619	721185	1,12995	2199	4299	6498	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721185C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.851C>T	16.37:g.721185C>T	ENSP00000321971:p.Ala284Val						p.A284V	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			11	965	+		Hepatocellular(780;0.0218)	284					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.851C>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139725	0.37728	2.27E-4	0.0	ENSG00000140983	ENST00000315082	T	0.43688	0.94	5.05	1.61	0.23674	EF hand associated, type-2 (1);	0.570772	0.19826	N	0.105195	T	0.26011	0.0634	L	0.27053	0.805	0.09310	N	1	B	0.32425	0.371	B	0.29862	0.108	T	0.10451	-1.0629	10	0.41790	T	0.15	0.274	8.2351	0.31620	0.6953:0.2123:0.0:0.0924	.	284	Q8IXI1	MIRO2_HUMAN	V	284	ENSP00000321971:A284V	ENSP00000321971:A284V	A	+	2	0	RHOT2	661186	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	1.308000	0.33528	0.092000	0.17331	0.561000	0.74099	GCG		0.637	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		37	35	0	0	0	1	0	37	35				
MOSPD1	56180	broad.mit.edu	37	X	134033182	134033182	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134033182A>T	ENST00000370783.3	-	3	354	c.168T>A	c.(166-168)acT>acA	p.T56T	MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370779.4_Silent_p.T56T|MOSPD1_ENST00000370777.1_Silent_p.T56T	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	56	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ACTTATTTGGAGTAGTACACA	0.338																																						ENST00000370783.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(166-168)acT>acA		motile sperm domain containing 1							149.0	139.0	143.0					X																	134033182		2203	4300	6503	SO:0001819	synonymous_variant	56180				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity	g.chrX:134033182A>T	Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.168T>A	X.37:g.134033182A>T						MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370777.1_Silent_p.T56T|MOSPD1_ENST00000370779.4_Silent_p.T56T	p.T56T	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN			3	354	-	Acute lymphoblastic leukemia(192;0.000127)		56			MSP.		B2RE62|D3DTG5|Q5H9C5|Q5H9C7	Silent	SNP	ENST00000370783.3	37	c.168T>A	CCDS14645.1																																																																																				0.338	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085439.1	NM_019556		17	152	0	0	0	1	0	17	152				
VPS28	51160	broad.mit.edu	37	8	145651093	145651093	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145651093T>C	ENST00000526054.1	-	4	204	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	VPS28_ENST00000292510.4_Missense_Mutation_p.Y56C|VPS28_ENST00000377348.2_Missense_Mutation_p.Y56C|VPS28_ENST00000529182.1_Missense_Mutation_p.Y56C|VPS28_ENST00000526734.1_5'UTR			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	56	VPS28 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00645}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTCCTTGATGTAGGCCTTCTC	0.612																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(166-168)tAc>tGc		vacuolar protein sorting 28 homolog (S. cerevisiae)							186.0	158.0	167.0					8																	145651093		2203	4300	6503	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145651093T>C	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.167A>G	8.37:g.145651093T>C	ENSP00000434064:p.Tyr56Cys					VPS28_ENST00000526054.1_Missense_Mutation_p.Y56C|VPS28_ENST00000529182.1_Missense_Mutation_p.Y56C|VPS28_ENST00000292510.4_Missense_Mutation_p.Y56C|VPS28_ENST00000526734.1_5'UTR	p.Y56C	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		5	256	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		56			VPS28 N-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.167A>G	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	t	24.7	4.560832	0.86335	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032	.	.	.	5.22	5.22	0.72569	Vacuolar protein sorting-associated, VPS28, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86264	0.5891	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	D	0.90024	0.4130	9	0.87932	D	0	.	13.0665	0.59036	0.0:0.0:0.0:1.0	.	56;56	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	C	56	.	ENSP00000292510:Y56C	Y	-	2	0	VPS28	145621901	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	4.667000	0.61561	1.946000	0.56461	0.528000	0.53228	TAC		0.612	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			15	26	0	0	0	1	0	15	26				
CEACAM5	1048	broad.mit.edu	37	19	42213702	42213702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42213702C>T	ENST00000221992.6	+	2	282	c.168C>T	c.(166-168)caC>caT	p.H56H	CEACAM5_ENST00000405816.1_Silent_p.H56H|CEA_ENST00000598976.1_Silent_p.H56H|CEACAM5_ENST00000398599.4_Silent_p.H56H|CEACAM7_ENST00000599715.1_5'Flank	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	56	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACTTGTCCACAATCTGCCCC	0.483																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(166-168)caC>caT		carcinoembryonic antigen-related cell adhesion molecule 5							175.0	157.0	163.0					19																	42213702		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213702C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.168C>T	19.37:g.42213702C>T						CEACAM5_ENST00000398599.4_Silent_p.H56H|CEACAM5_ENST00000405816.1_Silent_p.H56H|CEA_ENST00000598976.1_Silent_p.H56H	p.H56H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	282	+			56			Ig-like 1.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.168C>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	2.135	-0.398090	0.04865	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.09	-0.675	0.11364	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0045	0.06024	0.0:0.4723:0.2376:0.2901	.	.	.	.	X	53	.	.	Q	+	1	0	CEACAM5	46905542	0.000000	0.05858	0.015000	0.15790	0.008000	0.06430	-0.545000	0.06069	0.177000	0.19895	0.305000	0.20034	CAA		0.483	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		40	65	0	0	0	1	0	40	65				
MAPK7	5598	broad.mit.edu	37	17	19283924	19283924	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19283924C>T	ENST00000308406.5	+	4	788	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Silent_p.Y134Y|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000299612.7_5'UTR|MAPK7_ENST00000395602.4_Silent_p.Y134Y|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTTCCAGCTACGTGGTCCTGG	0.572																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(400-402)taC>taT		mitogen-activated protein kinase 7							95.0	67.0	76.0					17																	19283924		2203	4300	6503	SO:0001819	synonymous_variant	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19283924C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.402C>T	17.37:g.19283924C>T						MAPK7_ENST00000395602.4_Silent_p.Y134Y|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_5'UTR|MAPK7_ENST00000395604.3_Silent_p.Y134Y	p.Y134Y	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	788	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		134			Protein kinase.|Required for binding to MAP2K5 (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	c.402C>T	CCDS11206.1																																																																																				0.572	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		17	29	0	0	0	1	0	17	29				
LAD1	3898	broad.mit.edu	37	1	201352498	201352498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201352498C>T	ENST00000391967.2	-	6	1496	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Missense_Mutation_p.D413N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	399						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACTGTGTTGTCTGGGAGCTTC	0.617																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1195-1197)Gac>Aac		ladinin 1							150.0	129.0	136.0					1																	201352498		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201352498C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1195G>A	1.37:g.201352498C>T	ENSP00000375829:p.Asp399Asn					LAD1_ENST00000367313.3_Missense_Mutation_p.D413N|LAD1_ENST00000488842.1_5'UTR	p.D399N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			6	1496	-			399					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.1195G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	7.160	0.585436	0.13749	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.43688	0.94;2.77;2.76	4.79	1.57	0.23409	.	1.010630	0.07946	N	0.980113	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.21793	-1.0235	10	0.25751	T	0.34	-7.434	2.4929	0.04615	0.1978:0.5052:0.1913:0.1057	.	399	O00515	LAD1_HUMAN	N	50;399;413	ENSP00000422687:D50N;ENSP00000375829:D399N;ENSP00000356282:D413N	ENSP00000356282:D413N	D	-	1	0	LAD1	199619121	0.000000	0.05858	0.068000	0.19968	0.071000	0.16799	0.117000	0.15583	1.097000	0.41459	0.561000	0.74099	GAC		0.617	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		54	62	0	0	0	1	0	54	62				
YPEL2	388403	broad.mit.edu	37	17	57465709	57465709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57465709C>T	ENST00000312655.4	+	3	457	c.139C>T	c.(139-141)Cga>Tga	p.R47*	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Nonsense_Mutation_p.R47*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	47						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGTCAAGGACGAGCATACCT	0.418																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(139-141)Cga>Tga		yippee-like 2 (Drosophila)							309.0	255.0	273.0					17																	57465709		2203	4300	6503	SO:0001587	stop_gained	388403					nucleolus		g.chr17:57465709C>T	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.139C>T	17.37:g.57465709C>T	ENSP00000312272:p.Arg47*					YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Nonsense_Mutation_p.R47*	p.R47*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN			3	457	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		47					A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Nonsense_Mutation	SNP	ENST00000312655.4	37	c.139C>T	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	C	39	7.652205	0.98412	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.98	5.98	0.97165	.	0.142744	0.47455	D	0.000237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.371	19.5092	0.95133	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000312272:R47X	R	+	1	2	YPEL2	54820491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.001000	0.49488	2.861000	0.98227	0.650000	0.86243	CGA		0.418	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		12	136	0	0	0	1	0	12	136				
GORASP2	26003	broad.mit.edu	37	2	171822497	171822497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822497G>A	ENST00000234160.4	+	10	2031	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	GORASP2_ENST00000452526.2_Missense_Mutation_p.A418T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	406					mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAAGGCAGACGCTGCCTCCTC	0.637																																						ENST00000234160.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(1216-1218)Gct>Act		golgi reassembly stacking protein 2, 55kDa							81.0	73.0	75.0					2																	171822497		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171822497G>A		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.1216G>A	2.37:g.171822497G>A	ENSP00000234160:p.Ala406Thr					GORASP2_ENST00000452526.2_Missense_Mutation_p.A418T	p.A406T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN			10	2031	+			406					B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.1216G>A	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	G	8.773	0.926344	0.18056	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.44881	0.93;0.91	5.21	-0.0694	0.13751	.	1.361560	0.04534	N	0.386930	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.04013	0.001;0.001;0.0	T	0.16041	-1.0416	10	0.13470	T	0.59	0.0181	5.606	0.17379	0.1479:0.2826:0.4827:0.0868	.	362;418;406	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	T	406;418	ENSP00000234160:A406T;ENSP00000410208:A418T	ENSP00000234160:A406T	A	+	1	0	GORASP2	171530743	0.001000	0.12720	0.000000	0.03702	0.463000	0.32649	0.216000	0.17585	-0.032000	0.13758	-0.150000	0.13652	GCT		0.637	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			17	32	0	0	0	1	0	17	32				
TAPBP	6892	broad.mit.edu	37	6	33272822	33272822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33272822G>A	ENST00000489157.1	-	3	763	c.551C>T	c.(550-552)gCc>gTc	p.A184V	TAPBP_ENST00000456592.2_Missense_Mutation_p.A271V|TAPBP_ENST00000475304.1_Missense_Mutation_p.A289V|TAPBP_ENST00000426633.2_Missense_Mutation_p.A271V|TAPBP_ENST00000434618.2_Missense_Mutation_p.A271V			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	271					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GTGTATGGTGGCCAGATAGGT	0.577																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(811-813)gCc>gTc		TAP binding protein (tapasin)							125.0	123.0	124.0					6																	33272822		2203	4300	6503	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272822G>A	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.551C>T	6.37:g.33272822G>A	ENSP00000419659:p.Ala184Val					TAPBP_ENST00000456592.2_Missense_Mutation_p.A271V|TAPBP_ENST00000489157.1_Missense_Mutation_p.A184V|TAPBP_ENST00000475304.1_Missense_Mutation_p.A289V|TAPBP_ENST00000426633.2_Missense_Mutation_p.A271V	p.A271V	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			4	1157	-			271					A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.812C>T	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324250	0.81580	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741	T;T;T;T;T	0.35605	1.35;1.33;1.39;1.3;1.35	4.69	4.69	0.59074	.	0.107907	0.64402	D	0.000006	T	0.47746	0.1462	M	0.63428	1.95	0.36790	D	0.884794	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;1.0;1.0	D;D;P;D;D;D	0.83275	0.996;0.977;0.908;0.996;0.996;0.99	T	0.52924	-0.8510	10	0.87932	D	0	-26.0562	12.9811	0.58564	0.0:0.0:1.0:0.0	.	271;184;289;271;271;271	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	V	271;289;184;271;271;271;271	ENSP00000395701:A271V;ENSP00000417949:A289V;ENSP00000419659:A184V;ENSP00000404833:A271V;ENSP00000387803:A271V	ENSP00000404833:A271V	A	-	2	0	TAPBP	33380800	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	2.955000	0.49121	2.425000	0.82216	0.478000	0.44815	GCC		0.577	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			5	125	0	0	0	1	0	5	125				
EGLN3	112399	broad.mit.edu	37	14	34398308	34398308	+	Silent	SNP	G	G	A	rs370813407		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:34398308G>A	ENST00000250457.3	-	3	916	c.588C>T	c.(586-588)caC>caT	p.H196H	EGLN3_ENST00000553215.1_Silent_p.H102H	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	196	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GCTGCACTTCGTGTGGGTTCC	0.493																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000250457.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(586-588)caC>caT		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)	G		0,4406		0,0,2203	105.0	99.0	101.0		588	0.2	1.0	14		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EGLN3	NM_022073.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		196/240	34398308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34398308G>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.588C>T	14.37:g.34398308G>A						EGLN3_ENST00000553215.1_Silent_p.H102H	p.H196H	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	3	916	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		196			Fe2OG dioxygenase.		Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.588C>T	CCDS9646.1																																																																																				0.493	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			4	81	0	0	0	1	0	4	81				
VPS13C	54832	broad.mit.edu	37	15	62199530	62199530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199530T>C	ENST00000261517.5	-	66	9111	c.9038A>G	c.(9037-9039)gAt>gGt	p.D3013G	VPS13C_ENST00000395896.4_Missense_Mutation_p.D3013G|VPS13C_ENST00000249837.3_Missense_Mutation_p.D2970G|VPS13C_ENST00000395898.3_Missense_Mutation_p.D2970G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCAGTAGGATCTGCCCAGGC	0.413																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9037-9039)gAt>gGt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							154.0	139.0	144.0					15																	62199530		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62199530T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9038A>G	15.37:g.62199530T>C	ENSP00000261517:p.Asp3013Gly					VPS13C_ENST00000395896.4_Missense_Mutation_p.D3013G|VPS13C_ENST00000249837.3_Missense_Mutation_p.D2970G|VPS13C_ENST00000395898.3_Missense_Mutation_p.D2970G	p.D3013G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			66	9111	-			3013						Missense_Mutation	SNP	ENST00000261517.5	37	c.9038A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745822	0.89663	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.53423	1.38;1.38;1.38;0.62	5.6	5.6	0.85130	Vacuolar protein sorting-associated protein (1);	0.099196	0.64402	D	0.000003	T	0.71634	0.3363	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.995;0.999;0.999;0.999	D;D;D;D;D	0.75484	0.962;0.962;0.976;0.976;0.986	T	0.74725	-0.3568	10	0.45353	T	0.12	.	15.7805	0.78257	0.0:0.0:0.0:1.0	.	3013;2970;3013;2970;3013	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	G	2970;3013;3013;3013	ENSP00000249837:D2970G;ENSP00000261517:D3013G;ENSP00000379233:D3013G;ENSP00000379235:D3013G	ENSP00000249837:D2970G	D	-	2	0	VPS13C	59986822	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.376000	0.73141	2.140000	0.66376	0.477000	0.44152	GAT		0.413	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		37	56	0	0	0	1	0	37	56				
ATP12A	479	broad.mit.edu	37	13	25280490	25280490	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25280490G>T	ENST00000381946.3	+	15	2225	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	ATP12A_ENST00000218548.6_Missense_Mutation_p.K692N|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	686					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGGAGCTGAAGGACATGAGCT	0.542																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2074-2076)aaG>aaT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						127.0	102.0	111.0					13																	25280490		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25280490G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2058G>T	13.37:g.25280490G>T	ENSP00000371372:p.Lys686Asn					ATP12A_ENST00000381946.3_Missense_Mutation_p.K686N	p.K692N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	15	2409	+		Lung SC(185;0.0225)|Breast(139;0.077)	686					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2076G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600844	0.66332	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.93307	-3.2;-3.2	5.79	4.94	0.65067	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	N	0.11313	0.125	0.52501	D	0.999958	D;D	0.76494	0.999;0.999	D;D	0.91635	0.991;0.999	D	0.91942	0.5564	10	0.87932	D	0	.	8.8059	0.34938	0.1694:0.0:0.8306:0.0	.	692;686	P54707-2;P54707	.;AT12A_HUMAN	N	692;686	ENSP00000218548:K692N;ENSP00000371372:K686N	ENSP00000218548:K692N	K	+	3	2	ATP12A	24178490	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.393000	0.52544	1.432000	0.47375	0.563000	0.77884	AAG		0.542	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		18	23	1	0	1.50039e-11	1	1.87199e-11	18	23				
CDH23	64072	broad.mit.edu	37	10	73206145	73206145	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73206145G>A	ENST00000224721.6	+	2	143	c.138G>A	c.(136-138)acG>acA	p.T46T	CDH23_ENST00000398842.3_Silent_p.T46T|CDH23_ENST00000299366.7_Silent_p.T91T|CDH23_ENST00000461841.3_Silent_p.T91T|CDH23_ENST00000398809.4_Silent_p.T46T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGAGGACACGCCTGTGGGTG	0.577																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(136-138)acG>acA		cadherin-related 23							70.0	73.0	72.0					10																	73206145		2129	4215	6344	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73206145G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.138G>A	10.37:g.73206145G>A						CDH23_ENST00000461841.3_Silent_p.T91T|CDH23_ENST00000299366.7_Silent_p.T91T|CDH23_ENST00000398842.3_Silent_p.T46T|CDH23_ENST00000398809.4_Silent_p.T46T	p.T46T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			2	143	+			46			Cadherin 1.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.138G>A																																																																																					0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	36	0	0	0	1	0	15	36				
BPIFB4	149954	broad.mit.edu	37	20	31690816	31690816	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31690816T>A	ENST00000375483.3	+	13	1676	c.1676T>A	c.(1675-1677)tTt>tAt	p.F559Y		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	559						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GTGGGCAACTTTGATGTAAGT	0.517																																						ENST00000375483.3																			0											c.(1675-1677)tTt>tAt		BPI fold containing family B, member 4							173.0	151.0	158.0					20																	31690816		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31690816T>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1676T>A	20.37:g.31690816T>A	ENSP00000364632:p.Phe559Tyr						p.F559Y	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			13	1676	+			559					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1676T>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577717	0.45902	.	.	ENSG00000186191	ENST00000375483	T	0.10382	2.88	5.67	4.57	0.56435	.	0.260061	0.34133	N	0.004231	T	0.31358	0.0794	M	0.79926	2.475	0.36684	D	0.879202	D	0.69078	0.997	D	0.76071	0.987	T	0.31223	-0.9951	10	0.72032	D	0.01	-18.3597	8.4349	0.32780	0.0:0.0889:0.0:0.9111	.	559	P59827	BPIB4_HUMAN	Y	559	ENSP00000364632:F559Y	ENSP00000364632:F559Y	F	+	2	0	BPIFB4	31154477	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	3.845000	0.55880	0.981000	0.38548	-0.379000	0.06801	TTT		0.517	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		10	103	0	0	0	1	0	10	103				
SCN8A	6334	broad.mit.edu	37	12	52180523	52180523	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52180523G>T	ENST00000354534.6	+	22	4318	c.4140G>T	c.(4138-4140)atG>atT	p.M1380I	SCN8A_ENST00000545061.1_Missense_Mutation_p.M1339I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1380					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAAAGCTTATGGAGGGGAACA	0.393																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4138-4140)atG>atT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						82.0	80.0	81.0					12																	52180523		1873	4106	5979	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52180523G>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4140G>T	12.37:g.52180523G>T	ENSP00000346534:p.Met1380Ile					SCN8A_ENST00000545061.1_Missense_Mutation_p.M1339I	p.M1380I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	22	4318	+			1380					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4140G>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	3.472	-0.107775	0.06924	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.95788	-3.81;-3.74;-3.62	5.32	5.32	0.75619	Ion transport (1);	0.042827	0.85682	D	0.000000	D	0.87601	0.6218	N	0.11023	0.085	0.42771	D	0.993837	B;B	0.13145	0.007;0.0	B;B	0.15484	0.013;0.002	T	0.81726	-0.0801	10	0.02654	T	1	.	14.4223	0.67193	0.0:0.0:0.8527:0.1473	.	1339;1380	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	I	1380;1339;1339	ENSP00000346534:M1380I;ENSP00000440360:M1339I;ENSP00000347255:M1339I	ENSP00000346534:M1380I	M	+	3	0	SCN8A	50466790	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	0.112000	0.15479	2.941000	0.99782	0.655000	0.94253	ATG		0.393	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	35	1	0	0.00909568	1	0.00947522	4	35				
TBXAS1	6916	broad.mit.edu	37	7	139661747	139661747	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139661747G>T	ENST00000336425.5	+	13	1238	c.849G>T	c.(847-849)ctG>ctT	p.L283L	TBXAS1_ENST00000411653.1_Silent_p.L283L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000263552.6_Silent_p.L284L|TBXAS1_ENST00000458722.1_Silent_p.L329L|TBXAS1_ENST00000414508.2_Silent_p.L284L|TBXAS1_ENST00000425687.1_Silent_p.L216L|TBXAS1_ENST00000448866.1_Silent_p.L283L|TBXAS1_ENST00000436047.2_Silent_p.L284L|TBXAS1_ENST00000416849.2_Silent_p.L330L			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	283					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AAATGGTCCTGGATGCCCGAC	0.507																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(850-852)ctG>ctT		thromboxane A synthase 1 (platelet)							90.0	80.0	83.0					7																	139661747		2203	4300	6503	SO:0001819	synonymous_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139661747G>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.849G>T	7.37:g.139661747G>T						TBXAS1_ENST00000416849.2_Silent_p.L330L|TBXAS1_ENST00000411653.1_Silent_p.L283L|TBXAS1_ENST00000425687.1_Silent_p.L216L|TBXAS1_ENST00000436047.2_Silent_p.L284L|TBXAS1_ENST00000336425.5_Silent_p.L283L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Silent_p.L329L|TBXAS1_ENST00000414508.2_Silent_p.L284L|TBXAS1_ENST00000448866.1_Silent_p.L283L	p.L284L	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			13	1390	+	Melanoma(164;0.0142)		283					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000336425.5	37	c.852G>T																																																																																					0.507	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			9	41	1	0	3.07112e-06	1	3.52574e-06	9	41				
RNF6	6049	broad.mit.edu	37	13	26788928	26788928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26788928T>C	ENST00000381588.4	-	5	1843	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.Y364C|RNF6_ENST00000346166.3_Missense_Mutation_p.Y364C|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	364	Arg-rich.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAATGGGGTATATGCAGTACC	0.438																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1090-1092)tAt>tGt		ring finger protein (C3H2C3 type) 6							98.0	88.0	91.0					13																	26788928		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788928T>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1091A>G	13.37:g.26788928T>C	ENSP00000371000:p.Tyr364Cys					RNF6_ENST00000381570.3_Missense_Mutation_p.Y364C|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.Y364C	p.Y364C	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1843	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	364			Arg-rich.		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1091A>G	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	8.630	0.893420	0.17613	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.07800	3.16;3.16;3.16	4.41	0.0843	0.14436	.	0.870332	0.10045	N	0.722979	T	0.08358	0.0208	L	0.50333	1.59	0.09310	N	1	P	0.50369	0.934	B	0.40702	0.338	T	0.31696	-0.9934	10	0.46703	T	0.11	-5.2079	7.0492	0.25063	0.0:0.0811:0.4535:0.4653	.	364	Q9Y252	RNF6_HUMAN	C	364	ENSP00000342121:Y364C;ENSP00000371000:Y364C;ENSP00000370982:Y364C	ENSP00000342121:Y364C	Y	-	2	0	RNF6	25686928	0.000000	0.05858	0.001000	0.08648	0.989000	0.77384	0.288000	0.18939	0.207000	0.20607	0.455000	0.32223	TAT		0.438	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		4	55	0	0	0	1	0	4	55				
COL11A1	1301	broad.mit.edu	37	1	103412484	103412484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103412484C>T	ENST00000370096.3	-	42	3509	c.3197G>A	c.(3196-3198)gGt>gAt	p.G1066D	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1027D|COL11A1_ENST00000512756.1_Missense_Mutation_p.G950D|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1078D	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1066	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCTGTACCTGCTGACCC	0.463																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3232-3234)gGt>gAt		collagen, type XI, alpha 1							37.0	35.0	36.0					1																	103412484		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103412484C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3197G>A	1.37:g.103412484C>T	ENSP00000359114:p.Gly1066Asp					COL11A1_ENST00000512756.1_Missense_Mutation_p.G950D|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1066D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1027D	p.G1078D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	42	3550	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1066			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3233G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068391	0.76301	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.98262	1.0499	10	0.87932	D	0	.	19.0317	0.92960	0.0:1.0:0.0:0.0	.	950;1027;1078;1066;286	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	D	1066;1078;1027;286;950	ENSP00000359114:G1066D;ENSP00000351163:G1078D;ENSP00000302551:G1027D;ENSP00000426533:G950D	ENSP00000302551:G1027D	G	-	2	0	COL11A1	103185072	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	7.722000	0.84778	2.580000	0.87095	0.650000	0.86243	GGT		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		10	25	0	0	0	1	0	10	25				
ALMS1	7840	broad.mit.edu	37	2	73717968	73717968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717968C>T	ENST00000264448.6	+	10	8990	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.P2918L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2960					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAGACCTTCCGTCTCCCATT	0.438																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8878-8880)cCg>cTg		Alstrom syndrome 1							145.0	136.0	139.0					2																	73717968		1877	4114	5991	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717968C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8879C>T	2.37:g.73717968C>T	ENSP00000264448:p.Pro2960Leu					ALMS1_ENST00000409009.1_Missense_Mutation_p.P2918L	p.P2960L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8990	+			2960					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8879C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	c	12.84	2.058342	0.36277	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.14516	2.51;2.5	4.18	3.28	0.37604	.	0.126644	0.36932	N	0.002321	T	0.26629	0.0651	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.986	T	0.01298	-1.1392	10	0.87932	D	0	.	9.2611	0.37612	0.2149:0.7851:0.0:0.0	.	2960;2918;2960	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2918;2960	ENSP00000386627:P2918L;ENSP00000264448:P2960L	ENSP00000264448:P2960L	P	+	2	0	ALMS1	73571476	1.000000	0.71417	0.998000	0.56505	0.332000	0.28634	1.898000	0.39809	1.308000	0.44962	0.650000	0.86243	CCG		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		47	95	0	0	0	1	0	47	95				
ZBED6CL	113763	broad.mit.edu	37	7	150027713	150027713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150027713G>A	ENST00000343855.4	+	1	776	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	74																	GTTTGTGCTGGCCACCTTGCT	0.612																																						ENST00000343855.4																			0											c.(220-222)Gcc>Acc		ZBED6 C-terminal like							91.0	89.0	89.0					7																	150027713		2203	4300	6503	SO:0001583	missense	113763							g.chr7:150027713G>A	BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.220G>A	7.37:g.150027713G>A	ENSP00000343242:p.Ala74Thr					LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	p.A74T	NM_138434.2	NP_612443.1					1	776	+									Missense_Mutation	SNP	ENST00000343855.4	37	c.220G>A	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265494	0.59431	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.63	3.63	0.41609	.	0.167927	0.26334	U	0.024975	T	0.46580	0.1400	L	0.29908	0.895	0.25315	N	0.989168	D	0.76494	0.999	D	0.65684	0.937	T	0.22243	-1.0222	9	0.72032	D	0.01	.	9.1456	0.36930	0.0:0.0:0.7817:0.2183	.	74	Q96FA7	CG029_HUMAN	T	74	.	ENSP00000343242:A74T	A	+	1	0	C7orf29	149658646	1.000000	0.71417	0.997000	0.53966	0.470000	0.32858	2.307000	0.43682	1.994000	0.58287	0.558000	0.71614	GCC		0.612	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		44	98	0	0	0	1	0	44	98				
NINL	22981	broad.mit.edu	37	20	25457694	25457694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457694G>T	ENST00000278886.6	-	17	2306	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	745					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCCCCGACAGCTCTCCACTC	0.682																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2233-2235)Ctg>Atg		ninein-like							18.0	19.0	18.0					20																	25457694		2201	4299	6500	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457694G>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2233C>A	20.37:g.25457694G>T	ENSP00000278886:p.Leu745Met					NINL_ENST00000422516.1_Intron	p.L745M	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	2306	-			745					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2233C>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	8.359	0.832611	0.16820	.	.	ENSG00000101004	ENST00000278886	T	0.40225	1.04	3.44	2.48	0.30137	.	1.348720	0.05065	N	0.480583	T	0.45955	0.1368	L	0.29908	0.895	0.20638	N	0.99987	D	0.57571	0.98	P	0.57283	0.817	T	0.30208	-0.9986	10	0.40728	T	0.16	-3.0211	6.3382	0.21309	0.1392:0.0:0.8608:0.0	.	745	Q9Y2I6	NINL_HUMAN	M	745	ENSP00000278886:L745M	ENSP00000278886:L745M	L	-	1	2	NINL	25405694	0.114000	0.22134	0.006000	0.13384	0.001000	0.01503	1.520000	0.35899	0.670000	0.31165	0.462000	0.41574	CTG		0.682	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		8	9	1	0	0.000442599	1	0.00048047	8	9				
KIN	22944	broad.mit.edu	37	10	7801869	7801869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7801869G>A	ENST00000379562.4	-	12	1150	c.1103C>T	c.(1102-1104)aCt>aTt	p.T368I	KIN_ENST00000535925.1_Missense_Mutation_p.T368I|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.T262I	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATGACGATAGTAGCTGAAAA	0.303																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.(1102-1104)aCt>aTt		KIN, antigenic determinant of recA protein homolog (mouse)							99.0	95.0	97.0					10																	7801869		2203	4293	6496	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7801869G>A	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.1103C>T	10.37:g.7801869G>A	ENSP00000368881:p.Thr368Ile					KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.T262I|KIN_ENST00000535925.1_Missense_Mutation_p.T368I	p.T368I			O60870	KIN17_HUMAN			12	1150	-			368			C-terminal subdomain B.			Missense_Mutation	SNP	ENST00000379562.4	37	c.1103C>T	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145931	0.77888	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.97	5.97	0.96955	.	0.049686	0.85682	D	0.000000	T	0.77665	0.4164	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.98;0.996	T	0.73987	-0.3809	9	0.40728	T	0.16	-19.4942	20.0338	0.97549	0.0:0.0:1.0:0.0	.	262;368	F5GXB3;O60870	.;KIN17_HUMAN	I	368;368;262	.	ENSP00000368881:T368I	T	-	2	0	KIN	7841875	1.000000	0.71417	0.984000	0.44739	0.671000	0.39405	7.534000	0.82004	2.836000	0.97738	0.655000	0.94253	ACT		0.303	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		4	57	0	0	0	1	0	4	57				
PCGF5	84333	broad.mit.edu	37	10	93008308	93008308	+	Silent	SNP	C	C	T	rs369012074		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008308C>T	ENST00000336126.5	+	4	488	c.256C>T	c.(256-258)Cta>Tta	p.L86L	PCGF5_ENST00000543648.1_Silent_p.L86L	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GGTCCCTGGACTACGAGAACG	0.353																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(256-258)Cta>Tta		polycomb group ring finger 5		C		1,4405	2.1+/-5.4	0,1,2202	174.0	176.0	175.0		256	5.6	1.0	10		175	0,8600		0,0,4300	no	coding-synonymous	PCGF5	NM_032373.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		86/257	93008308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93008308C>T	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.256C>T	10.37:g.93008308C>T						PCGF5_ENST00000543648.1_Silent_p.L86L	p.L86L	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			4	488	+			86					B7Z892|D3DR33|Q6PK47|Q86TD0	Silent	SNP	ENST00000336126.5	37	c.256C>T	CCDS7413.1																																																																																				0.353	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		7	120	0	0	0	1	0	7	120				
TMEM182	130827	broad.mit.edu	37	2	103378809	103378809	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103378809G>A	ENST00000412401.2	+	1	337		c.e1+1		TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAAAAGAATGTGAGTCTCTT	0.403																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.e1+1		transmembrane protein 182							159.0	154.0	155.0					2																	103378809		2203	4300	6503	SO:0001630	splice_region_variant	130827					integral to membrane		g.chr2:103378809G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.132+1G>A	2.37:g.103378809G>A						TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron		NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			1	337	+								C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Splice_Site	SNP	ENST00000412401.2	37		CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014058	0.35511	.	.	ENSG00000170417	ENST00000412401	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3076	0.26457	0.1148:0.1594:0.7258:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM182	102745241	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	3.247000	0.51422	2.865000	0.98341	0.655000	0.94253	.		0.403	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632	Intron	13	115	0	0	0	1	0	13	115				
ZNF165	7718	broad.mit.edu	37	6	28053407	28053407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28053407A>G	ENST00000377325.1	+	2	705	c.149A>G	c.(148-150)cAg>cGg	p.Q50R		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	50					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTGCAGGCAGCTTTTTAGG	0.522																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(148-150)cAg>cGg		zinc finger protein 165							121.0	132.0	128.0					6																	28053407		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053407A>G	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.149A>G	6.37:g.28053407A>G	ENSP00000366542:p.Gln50Arg						p.Q50R	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			2	705	+			50						Missense_Mutation	SNP	ENST00000377325.1	37	c.149A>G	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333919	0.24253	.	.	ENSG00000197279	ENST00000377325	T	0.06933	3.24	3.06	1.9	0.25705	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02083	0.0065	L	0.52364	1.645	0.24442	N	0.994522	B	0.12630	0.006	B	0.12156	0.007	T	0.46965	-0.9153	9	0.12430	T	0.62	.	6.3984	0.21624	0.877:0.0:0.123:0.0	.	50	P49910	ZN165_HUMAN	R	50	ENSP00000366542:Q50R	ENSP00000366542:Q50R	Q	+	2	0	ZNF165	28161386	0.033000	0.19621	0.195000	0.23364	0.791000	0.44710	1.213000	0.32407	0.576000	0.29452	0.533000	0.62120	CAG		0.522	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		65	116	0	0	0	1	0	65	116				
MARCH10	162333	broad.mit.edu	37	17	60865889	60865889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60865889C>A	ENST00000311269.5	-	3	436	c.162G>T	c.(160-162)gaG>gaT	p.E54D	MARCH10_ENST00000583600.1_Missense_Mutation_p.E54D|MARCH10_ENST00000544856.2_Missense_Mutation_p.E54D|MARCH10_ENST00000456609.2_Missense_Mutation_p.E54D	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	54					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAAACTTGTCTCTTGCCCCC	0.463																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(160-162)gaG>gaT		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							137.0	116.0	123.0					17																	60865889		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60865889C>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.162G>T	17.37:g.60865889C>A	ENSP00000311496:p.Glu54Asp					MARCH10_ENST00000311269.5_Missense_Mutation_p.E54D|MARCH10_ENST00000456609.2_Missense_Mutation_p.E54D|MARCH10_ENST00000583600.1_Missense_Mutation_p.E54D	p.E54D			Q8NA82	MARHA_HUMAN			4	540	-			54					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.162G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	c	4.089	0.014558	0.07959	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.21543	2.0;2.0;2.0	5.2	-5.79	0.02354	.	0.515361	0.16328	N	0.219239	T	0.09686	0.0238	L	0.37897	1.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.003;0.007;0.003	T	0.27020	-1.0086	10	0.20519	T	0.43	-1.8665	1.8	0.03069	0.4499:0.1785:0.2215:0.1501	.	54;54;54	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	D	54	ENSP00000416177:E54D;ENSP00000311496:E54D;ENSP00000443746:E54D	ENSP00000311496:E54D	E	-	3	2	MARCH10	58219621	0.006000	0.16342	0.000000	0.03702	0.032000	0.12392	-0.284000	0.08422	-1.006000	0.03412	-1.177000	0.01723	GAG		0.463	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		6	57	1	0	2.7689e-08	1	3.31013e-08	6	57				
FBF1	85302	broad.mit.edu	37	17	73919558	73919558	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73919558G>A	ENST00000586717.1	-	13	1364	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	FBF1_ENST00000319129.5_Missense_Mutation_p.A363V|FBF1_ENST00000389570.4_Missense_Mutation_p.A364V			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	364					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TTCCCGATGGGCCTCTCTGGT	0.652																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(1090-1092)gCc>gTc		Fas (TNFRSF6) binding factor 1							27.0	32.0	30.0					17																	73919558		2070	4195	6265	SO:0001583	missense	85302							g.chr17:73919558G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1091C>T	17.37:g.73919558G>A	ENSP00000465132:p.Ala364Val					FBF1_ENST00000319129.5_Missense_Mutation_p.A363V|FBF1_ENST00000389570.4_Missense_Mutation_p.A364V	p.A364V			A6NLR5	A6NLR5_HUMAN			13	1364	-			363					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.1091C>T		.	.	.	.	.	.	.	.	.	.	G	8.698	0.909131	0.17833	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.19394	2.15;2.15	4.2	3.23	0.37069	.	.	.	.	.	T	0.18964	0.0455	L	0.57536	1.79	0.09310	N	1	B;B;B	0.32753	0.383;0.383;0.225	B;B;B	0.27608	0.081;0.066;0.048	T	0.13255	-1.0516	9	0.40728	T	0.16	-2.1838	7.4435	0.27198	0.2527:0.0:0.7473:0.0	.	378;364;363	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	V	364;364;363;377	ENSP00000374221:A364V;ENSP00000324292:A363V	ENSP00000324292:A363V	A	-	2	0	FBF1	71431153	0.290000	0.24343	0.552000	0.28243	0.200000	0.23975	2.649000	0.46656	0.985000	0.38656	0.561000	0.74099	GCC		0.652	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		6	4	0	0	0	1	0	6	4				
ATP2B3	492	broad.mit.edu	37	X	152821652	152821652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152821652A>G	ENST00000349466.2	+	13	2530	c.2204A>G	c.(2203-2205)gAg>gGg	p.E735G	ATP2B3_ENST00000370186.1_Missense_Mutation_p.E721G|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E721G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E735G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E735G|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E721G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	735					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGGAAGGAGTTCAACCGG	0.657																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2161-2163)gAg>gGg		ATPase, Ca++ transporting, plasma membrane 3							55.0	48.0	51.0					X																	152821652		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152821652A>G	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2204A>G	X.37:g.152821652A>G	ENSP00000343886:p.Glu735Gly					ATP2B3_ENST00000370181.2_Missense_Mutation_p.E721G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E735G|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E721G|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E735G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E735G	p.E721G			Q16720	AT2B3_HUMAN			12	2488	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		735					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2162A>G	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086092	0.76642	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	4.73	4.73	0.59995	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.106321	0.64402	D	0.000006	D	0.97676	0.9238	H	0.94345	3.525	0.58432	D	0.999999	B;B	0.33494	0.414;0.146	B;B	0.38755	0.281;0.184	D	0.98281	1.0508	10	0.87932	D	0	-38.2451	12.5647	0.56304	1.0:0.0:0.0:0.0	.	735;735	Q16720;Q16720-2	AT2B3_HUMAN;.	G	721;735;721;735;735;721	ENSP00000359205:E721G;ENSP00000343886:E735G;ENSP00000377425:E721G;ENSP00000352062:E735G;ENSP00000263519:E735G;ENSP00000359200:E721G	ENSP00000263519:E735G	E	+	2	0	ATP2B3	152474846	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	9.193000	0.94954	1.673000	0.50895	0.350000	0.21858	GAG		0.657	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		6	36	0	0	0	1	0	6	36				
CYP4Z2P	163720	broad.mit.edu	37	1	47333757	47333757	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47333757G>A	ENST00000505841.1	-	0	931					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAACATGAACGTTTTCACTTC	0.413																																						ENST00000505841.1																			0																																																			0							g.chr1:47333757G>A	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47333757G>A								NR_002788.2						0	931	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.413	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		20	36	0	0	0	1	0	20	36				
PHTF1	10745	broad.mit.edu	37	1	114248605	114248605	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114248605A>G	ENST00000369604.1	-	13	2061	c.1578T>C	c.(1576-1578)atT>atC	p.I526I	PHTF1_ENST00000369596.2_Silent_p.I473I|PHTF1_ENST00000393357.2_Silent_p.I526I|PHTF1_ENST00000369598.1_Silent_p.I481I|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.I473I|PHTF1_ENST00000357783.2_Silent_p.I526I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	526					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAACAATAATAGGTGTAA	0.383																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1576-1578)atT>atC		putative homeodomain transcription factor 1							78.0	72.0	74.0					1																	114248605		2203	4300	6503	SO:0001819	synonymous_variant	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114248605A>G	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1578T>C	1.37:g.114248605A>G						PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.I473I|PHTF1_ENST00000369598.1_Silent_p.I481I|PHTF1_ENST00000357783.2_Silent_p.I526I|PHTF1_ENST00000393357.2_Silent_p.I526I|PHTF1_ENST00000369596.2_Silent_p.I473I	p.I526I			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2061	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	526					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Silent	SNP	ENST00000369604.1	37	c.1578T>C	CCDS861.1	.	.	.	.	.	.	.	.	.	.	A	7.992	0.753461	0.15778	.	.	ENSG00000116793	ENST00000412670	.	.	.	5.65	1.98	0.26296	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20371	-1.0277	4	.	.	.	-6.3128	5.2212	0.15370	0.4565:0.1545:0.389:0.0	.	.	.	.	S	282	.	.	L	-	2	0	PHTF1	114050128	0.997000	0.39634	0.290000	0.24890	0.916000	0.54674	0.715000	0.25822	0.415000	0.25817	0.397000	0.26171	TTA		0.383	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		8	60	0	0	0	1	0	8	60				
PTPRC	5788	broad.mit.edu	37	1	198676000	198676000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:198676000G>A	ENST00000367376.2	+	9	988	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	PTPRC_ENST00000594404.1_Missense_Mutation_p.E112K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E225K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E114K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E275K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E273*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACCTTACAGAATGTAAAAA	0.318																																						ENST00000367376.2																			1	Substitution - Nonsense(1)	p.E273*(1)	large_intestine(1)	breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(817-819)Gaa>Aaa		protein tyrosine phosphatase, receptor type, C							151.0	155.0	154.0					1																	198676000		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198676000G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.817G>A	1.37:g.198676000G>A	ENSP00000356346:p.Glu273Lys					PTPRC_ENST00000594404.1_Missense_Mutation_p.E112K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E225K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E114K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E275K	p.E273K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			9	988	+			273					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.817G>A		.	.	.	.	.	.	.	.	.	.	G	14.36	2.513673	0.44763	.	.	ENSG00000081237	ENST00000367379;ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.03330	3.97	4.93	0.731	0.18277	.	0.780519	0.11241	N	0.584629	T	0.10766	0.0263	M	0.76328	2.33	0.09310	N	1	D;D;P;D;P	0.89917	0.999;1.0;0.916;0.96;0.916	D;D;P;P;P	0.74023	0.969;0.982;0.798;0.848;0.72	T	0.29243	-1.0018	10	0.10636	T	0.68	.	3.7188	0.08448	0.0876:0.3111:0.4409:0.1604	.	209;209;114;225;273	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	K	112;275;209;225;225;159;273;207;112	ENSP00000193532:E225K	ENSP00000306782:E112K	E	+	1	0	PTPRC	196942623	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.598000	0.24074	0.050000	0.15949	-0.176000	0.13171	GAA		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				51	60	0	0	0	1	0	51	60				
POLG	5428	broad.mit.edu	37	15	89865974	89865974	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89865974T>C	ENST00000268124.5	-	14	2758	c.2425A>G	c.(2425-2427)Agc>Ggc	p.S809G	POLG_ENST00000442287.2_Splice_Site_p.S809G	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	809					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTGGCCCACCTGATACGTTTA	0.597								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.e14+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							139.0	144.0	142.0					15																	89865974		2200	4299	6499	SO:0001630	splice_region_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89865974T>C	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2426+1A>G	15.37:g.89865974T>C						POLG_ENST00000442287.2_Splice_Site_p.S809_splice	p.S809_splice	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		14	2758	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		809					Q8NFM2|Q92515	Splice_Site	SNP	ENST00000268124.5	37	c.2426_splice	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.859799	0.91433	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96913	-4.17;-4.17	5.08	5.08	0.68730	DNA-directed DNA polymerase, family A, palm domain (1);	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.96390	0.9288	10	0.23891	T	0.37	-24.7785	15.1261	0.72483	0.0:0.0:0.0:1.0	.	809	P54098	DPOG1_HUMAN	G	809	ENSP00000268124:S809G;ENSP00000399851:S809G	ENSP00000268124:S809G	S	-	1	0	POLG	87666978	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.669000	0.83911	2.054000	0.61138	0.459000	0.35465	AGC		0.597	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	Missense_Mutation	13	235	0	0	0	1	0	13	235				
NR1H3	10062	broad.mit.edu	37	11	47282170	47282170	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282170G>A	ENST00000467728.1	+	3	1681	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R148H|NR1H3_ENST00000481889.2_Missense_Mutation_p.R103H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R148H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R103H|NR1H3_ENST00000395397.3_Missense_Mutation_p.R103H|NR1H3_ENST00000527949.1_Missense_Mutation_p.R57H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R148H			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	148					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TACATGCGTCGCAAGTGCCAG	0.622																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(442-444)cGc>cAc		nuclear receptor subfamily 1, group H, member 3							40.0	36.0	37.0					11																	47282170		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282170G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.443G>A	11.37:g.47282170G>A	ENSP00000420656:p.Arg148His					NR1H3_ENST00000481889.2_Missense_Mutation_p.R103H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R103H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R148H|NR1H3_ENST00000527949.1_Missense_Mutation_p.R57H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R148H|NR1H3_ENST00000395397.3_Missense_Mutation_p.R103H|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R148H	p.R148H			Q13133	NR1H3_HUMAN			3	1681	+			148					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.443G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238568	0.95240	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	5.08	5.08	0.68730	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.996	D	0.99755	1.1019	10	0.87932	D	0	.	18.8433	0.92194	0.0:0.0:1.0:0.0	.	154;103;148;103;148	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	H	103;103;103;148;148;148;103;148;148;148;148;148;57	ENSP00000378793:R103H;ENSP00000385073:R103H;ENSP00000433271:R103H;ENSP00000403798:R148H;ENSP00000385801:R148H;ENSP00000391005:R148H;ENSP00000412636:R103H;ENSP00000415591:R148H;ENSP00000387946:R148H;ENSP00000403696:R148H;ENSP00000420656:R148H;ENSP00000384745:R148H;ENSP00000432073:R57H	ENSP00000378793:R103H	R	+	2	0	NR1H3	47238746	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.005000	0.88553	2.503000	0.84419	0.462000	0.41574	CGC		0.622	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			5	8	0	0	0	1	0	5	8				
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5203-5205)gCc>gTc		AHNAK nucleoprotein 2							85.0	97.0	93.0					14																	105416584		1813	4035	5848	SO:0001583	missense	113146					nucleus		g.chr14:105416584G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5204C>T	14.37:g.105416584G>A	ENSP00000353114:p.Ala1735Val					AHNAK2_ENST00000557457.1_Intron	p.A1735V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5323	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1735					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5204C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	5.329	0.245997	0.10077	.	.	ENSG00000185567	ENST00000333244	T	0.00784	5.7	4.8	-1.57	0.08506	.	.	.	.	.	T	0.01254	0.0041	L	0.39514	1.22	0.09310	N	1	P	0.48350	0.909	P	0.60012	0.867	T	0.47249	-0.9132	9	0.13853	T	0.58	-8.5045	1.8315	0.03131	0.2507:0.4053:0.2113:0.1327	.	1735	Q8IVF2	AHNK2_HUMAN	V	1735	ENSP00000353114:A1735V	ENSP00000353114:A1735V	A	-	2	0	AHNAK2	104487629	.	.	0.000000	0.03702	0.004000	0.04260	.	.	0.090000	0.17273	0.505000	0.49811	GCC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		67	95	0	0	0	1	0	67	95				
PHLPP2	23035	broad.mit.edu	37	16	71715723	71715723	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71715723A>C	ENST00000568954.1	-	6	1199	c.821T>G	c.(820-822)aTt>aGt	p.I274S	PHLPP2_ENST00000567016.1_Missense_Mutation_p.I309S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000393524.2_Missense_Mutation_p.I274S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	274					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGGTAGGTAATATCTTGACT	0.468																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(820-822)aTt>aGt		PH domain and leucine rich repeat protein phosphatase 2							134.0	126.0	129.0					16																	71715723		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71715723A>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.821T>G	16.37:g.71715723A>C	ENSP00000457991:p.Ile274Ser					PHLPP2_ENST00000567016.1_Missense_Mutation_p.I309S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I274S	p.I274S			Q6ZVD8	PHLP2_HUMAN			5	1554	-			274					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.821T>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	33	5.201313	0.94997	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.26373	1.74;2.21;1.74	5.62	5.62	0.85841	.	0.048095	0.85682	D	0.000000	T	0.55097	0.1899	M	0.87180	2.865	0.58432	D	0.999998	D;D	0.69078	0.997;0.993	D;P	0.64506	0.926;0.796	T	0.63620	-0.6596	10	0.87932	D	0	-19.3277	15.3056	0.73990	1.0:0.0:0.0:0.0	.	274;274	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	S	81;274;274;274;274	ENSP00000353610:I274S;ENSP00000348611:I274S;ENSP00000377159:I274S	ENSP00000299971:I81S	I	-	2	0	PHLPP2	70273224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.426000	0.80270	2.267000	0.75376	0.477000	0.44152	ATT		0.468	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		5	95	0	0	0	1	0	5	95				
ME3	10873	broad.mit.edu	37	11	86267742	86267742	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86267742T>C	ENST00000393324.3	-	3	573	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.Y107C|ME3_ENST00000359636.2_Missense_Mutation_p.Y107C|ME3_ENST00000323418.6_Missense_Mutation_p.Y45C	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	107					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GAGAATGATGTACCTTGTAAA	0.522																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(319-321)tAc>tGc		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						94.0	81.0	86.0					11																	86267742		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86267742T>C	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.320A>G	11.37:g.86267742T>C	ENSP00000376998:p.Tyr107Cys					ME3_ENST00000323418.6_Missense_Mutation_p.Y45C|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.Y107C|ME3_ENST00000359636.2_Missense_Mutation_p.Y107C	p.Y107C	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			4	646	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	107					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.320A>G	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.597829	0.87055	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418;ENST00000530335	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.02	6.02	0.97574	Malic enzyme, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73272	-0.4035	9	.	.	.	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	107	Q16798	MAON_HUMAN	C	107;107;107;107;45;45;107	ENSP00000352657:Y107C;ENSP00000440246:Y107C;ENSP00000376998:Y107C;ENSP00000431182:Y107C;ENSP00000315255:Y45C;ENSP00000434690:Y107C	.	Y	-	2	0	ME3	85945390	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.946000	0.87746	2.311000	0.77944	0.533000	0.62120	TAC		0.522	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			23	41	0	0	0	1	0	23	41				
LILRA6	79168	broad.mit.edu	37	19	54745686	54745686	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54745686G>T	ENST00000396365.2	-	4	463	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	LILRA6_ENST00000440558.2_Missense_Mutation_p.L142I|LILRA6_ENST00000270464.5_Missense_Mutation_p.L142I|LILRA6_ENST00000245621.5_Missense_Mutation_p.L142I|LILRA6_ENST00000419410.2_Missense_Mutation_p.L142I|LILRA6_ENST00000391735.3_Missense_Mutation_p.L142I|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	142					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACATCGGAGGGTCATATTC	0.562																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(424-426)Ctc>Atc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							32.0	54.0	47.0					19																	54745686		2126	4291	6417	SO:0001583	missense	79168							g.chr19:54745686G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.424C>A	19.37:g.54745686G>T	ENSP00000379651:p.Leu142Ile					LILRA6_ENST00000245621.5_Missense_Mutation_p.L142I|LILRA6_ENST00000391735.3_Missense_Mutation_p.L142I|LILRA6_ENST00000419410.2_Missense_Mutation_p.L142I|LILRA6_ENST00000270464.5_Missense_Mutation_p.L142I|LILRA6_ENST00000396365.2_Missense_Mutation_p.L142I|LILRB3_ENST00000407860.2_Intron	p.L142I						GBM - Glioblastoma multiforme(193;0.105)	4	472	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.424C>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051132	0.55218	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.08720	4.85;4.85;4.85;3.06;4.85;4.85	3.38	3.38	0.38709	Immunoglobulin-like fold (1);	0.136762	0.33753	N	0.004591	T	0.28532	0.0706	M	0.87381	2.88	0.21499	N	0.999666	P;P;D;P;P;D	0.61697	0.955;0.75;0.978;0.945;0.882;0.99	P;P;D;P;D;P	0.65874	0.769;0.897;0.939;0.771;0.924;0.853	T	0.03706	-1.1011	10	0.66056	D	0.02	.	10.4781	0.44676	0.0:0.0:1.0:0.0	.	142;142;142;142;142;142	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	I	142	ENSP00000390120:L142I;ENSP00000270464:L142I;ENSP00000411227:L142I;ENSP00000375615:L142I;ENSP00000379651:L142I;ENSP00000245621:L142I	ENSP00000245621:L142I	L	-	1	0	LILRA6	59437498	1.000000	0.71417	0.471000	0.27229	0.084000	0.17831	0.997000	0.29731	1.927000	0.55829	0.162000	0.16502	CTC		0.562	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		18	37	1	0	9.16793e-09	1	1.10245e-08	18	37				
CLNK	116449	broad.mit.edu	37	4	10560053	10560053	+	Silent	SNP	G	G	A	rs368705178		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10560053G>A	ENST00000226951.6	-	8	662	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CLNK_ENST00000442825.2_Silent_p.D99D|CLNK_ENST00000507719.1_Silent_p.D99D	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	141					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GGCTTCTGACGTCCTTGGAAA	0.383																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(421-423)gaC>gaT		cytokine-dependent hematopoietic cell linker		G		0,3840		0,0,1920	218.0	205.0	209.0		423	-2.3	0.0	4		209	1,8279		0,1,4139	no	coding-synonymous	CLNK	NM_052964.2		0,1,6059	AA,AG,GG		0.0121,0.0,0.0083		141/429	10560053	1,12119	1920	4140	6060	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10560053G>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.423C>T	4.37:g.10560053G>A						CLNK_ENST00000507719.1_Silent_p.D99D|CLNK_ENST00000442825.2_Silent_p.D99D	p.D141D	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			8	662	-			141					Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.423C>T	CCDS47024.1																																																																																				0.383	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		7	93	0	0	0	1	0	7	93				
PRKAB1	5564	broad.mit.edu	37	12	120106187	120106187	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120106187C>A	ENST00000229328.5	+	1	630	c.138C>A	c.(136-138)ctC>ctA	p.L46L	PRKAB1_ENST00000541640.1_Silent_p.L46L|PRKAB1_ENST00000540121.1_5'Flank	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	46					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	ACGCCGACCTCTTCCACTCCG	0.612																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(136-138)ctC>ctA		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)						46.0	38.0	41.0					12																	120106187		2203	4300	6503	SO:0001819	synonymous_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120106187C>A	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.138C>A	12.37:g.120106187C>A						PRKAB1_ENST00000541640.1_Silent_p.L46L	p.L46L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	1	630	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		46					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Silent	SNP	ENST00000229328.5	37	c.138C>A	CCDS9191.1																																																																																				0.612	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		4	19	1	0	0.150653	1	0.152692	4	19				
CFAP43	80217	broad.mit.edu	37	10	105902060	105902060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105902060C>T	ENST00000357060.3	-	33	4365	c.4250G>A	c.(4249-4251)aGa>aAa	p.R1417K	WDR96_ENST00000428666.1_Missense_Mutation_p.R1389K|WDR96_ENST00000479392.1_5'UTR	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGGAACACTCTCTCAATCTC	0.408																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4249-4251)aGa>aAa		WD repeat domain 96							225.0	208.0	214.0					10																	105902060		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105902060C>T																												ENST00000357060.3:c.4250G>A	10.37:g.105902060C>T	ENSP00000349568:p.Arg1417Lys					WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.R1389K	p.R1417K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			33	4365	-			1417						Missense_Mutation	SNP	ENST00000357060.3	37	c.4250G>A	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.581|1.581	-0.531671|-0.531671	0.04112|0.04112	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000457071;ENST00000434629|ENST00000357060;ENST00000428666	.|T;T	.|0.12984	.|2.71;2.63	5.51|5.51	0.0283|0.0283	0.14158|0.14158	.|.	.|0.388488	.|0.28109	.|N	.|0.016576	T|T	0.02418|0.02418	0.0074|0.0074	N|N	0.00237|0.00237	-1.79|-1.79	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.45338|0.45338	-0.9268|-0.9268	5|10	.|0.05959	.|T	.|0.93	.|.	11.0524|11.0524	0.47898|0.47898	0.0:0.1349:0.0:0.8651|0.0:0.1349:0.0:0.8651	.|.	.|1389;1417	.|G5E9L1;Q8NDM7	.|.;WDR96_HUMAN	K|K	266;749|1417;1389	.|ENSP00000349568:R1417K;ENSP00000400289:R1389K	.|ENSP00000349568:R1417K	E|R	-|-	1|2	0|0	WDR96|WDR96	105892050|105892050	0.832000|0.832000	0.29368|0.29368	0.003000|0.003000	0.11579|0.11579	0.985000|0.985000	0.73830|0.73830	0.720000|0.720000	0.25896|0.25896	-0.254000|-0.254000	0.09500|0.09500	-0.471000|-0.471000	0.05019|0.05019	GAG|AGA		0.408	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	118	0	0	0	1	0	20	118				
WDFY3	23001	broad.mit.edu	37	4	85626601	85626601	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85626601C>A	ENST00000295888.4	-	54	8688	c.8281G>T	c.(8281-8283)Gat>Tat	p.D2761Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.D2744Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2761	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCGTTCATCTGTTTGTGCT	0.383																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(8230-8232)Gat>Tat		WD repeat and FYVE domain containing 3							238.0	208.0	218.0					4																	85626601		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85626601C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8281G>T	4.37:g.85626601C>A	ENSP00000295888:p.Asp2761Tyr					WDFY3_ENST00000295888.4_Missense_Mutation_p.D2761Y	p.D2744Y			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	53	8637	-		Hepatocellular(203;0.114)	2761			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8230G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167421	0.78339	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.80653	-1.4;-1.4;-1.4	5.64	5.64	0.86602	BEACH domain (4);	0.094319	0.64402	D	0.000001	T	0.82047	0.4952	L	0.47716	1.5	0.80722	D	1	P	0.36125	0.538	B	0.43331	0.416	T	0.82121	-0.0614	10	0.72032	D	0.01	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	2761	Q8IZQ1	WDFY3_HUMAN	Y	2744;2761;364	ENSP00000318466:D2744Y;ENSP00000295888:D2761Y;ENSP00000424987:D364Y	ENSP00000295888:D2761Y	D	-	1	0	WDFY3	85845625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.850000	0.69473	2.937000	0.99478	0.650000	0.86243	GAT		0.383	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		11	120	1	0	4.68919e-08	1	5.58064e-08	11	120				
DFFA	1676	broad.mit.edu	37	1	10521672	10521672	+	Missense_Mutation	SNP	G	G	A	rs17856222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10521672G>A	ENST00000377038.3	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	RP5-1113E3.3_ENST00000424487.1_RNA	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	291				R -> W (in Ref. 8; AAH07721). {ECO:0000305}.	apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCGAGCTCCCGCTCACAGGCC	0.562																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(871-873)Cgg>Tgg		DNA fragmentation factor, 45kDa, alpha polypeptide		G	TRP/ARG,	2,4404	4.2+/-10.8	0,2,2201	80.0	82.0	81.0		871,	3.3	0.0	1	dbSNP_123	81	0,8600		0,0,4300	no	missense,utr-3	DFFA	NM_004401.2,NM_213566.1	101,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,	291/332,	10521672	2,13004	2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10521672G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.871C>T	1.37:g.10521672G>A	ENSP00000366237:p.Arg291Trp						p.R291W	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	6	938	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	291	R -> W (in Ref. 7; AAH07721).				Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.871C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959617	0.34565	4.54E-4	0.0	ENSG00000160049	ENST00000377038	.	.	.	5.28	3.34	0.38264	DNA fragmentation factor 45kDa, C-terminal (1);	0.533386	0.22354	N	0.061180	T	0.26304	0.0642	N	0.22421	0.69	0.33109	D	0.540271	D	0.62365	0.991	B	0.40534	0.332	T	0.39921	-0.9590	9	0.72032	D	0.01	-4.7106	8.074	0.30706	0.0809:0.0:0.7563:0.1629	rs17856222	291	O00273	DFFA_HUMAN	W	291	.	ENSP00000366237:R291W	R	-	1	2	DFFA	10444259	0.987000	0.35691	0.006000	0.13384	0.197000	0.23852	2.400000	0.44504	0.558000	0.29135	0.491000	0.48974	CGG		0.562	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		7	49	0	0	0	1	0	7	49				
ARID1A	8289	broad.mit.edu	37	1	27056262	27056262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27056262C>T	ENST00000324856.7	+	2	1629	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q420*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q37*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	420					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCCAGGGCAGCCATACGG	0.627			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1258-1260)Cag>Tag		AT rich interactive domain 1A (SWI-like)							57.0	60.0	59.0					1																	27056262		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27056262C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1258C>T	1.37:g.27056262C>T	ENSP00000320485:p.Gln420*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q420*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q37*	p.Q420*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	2	1629	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	420					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1258C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.591602	0.97688	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-7.1203	20.3771	0.98923	0.0:1.0:0.0:0.0	.	.	.	.	X	420;420;37;37	.	ENSP00000320485:Q420X	Q	+	1	0	ARID1A	26928849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.406000	0.80017	2.824000	0.97209	0.650000	0.86243	CAG		0.627	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		21	34	0	0	0	1	0	21	34				
COQ6	51004	broad.mit.edu	37	14	74428545	74428545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74428545C>T	ENST00000334571.2	+	11	1356	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.S364F|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.S414F	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	439					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ACCAGTGCCTCCCCGCTTGTG	0.502																																						ENST00000334571.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1315-1317)tCc>tTc		coenzyme Q6 monooxygenase							187.0	179.0	182.0					14																	74428545		2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74428545C>T	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1316C>T	14.37:g.74428545C>T	ENSP00000333946:p.Ser439Phe					COQ6_ENST00000394026.4_Missense_Mutation_p.S414F|COQ6_ENST00000238709.4_Missense_Mutation_p.S364F|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000557780.1_Intron	p.S439F	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	11	1356	+			439					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.1316C>T	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	C	6.450	0.451180	0.12223	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000556299	T;T;T	0.42131	0.98;0.98;0.98	5.55	2.77	0.32553	.	0.582172	0.20681	N	0.087658	T	0.32102	0.0818	N	0.16833	0.445	0.26737	N	0.97047	B;B;B;B	0.33919	0.306;0.004;0.432;0.01	B;B;B;B	0.41202	0.071;0.006;0.35;0.017	T	0.25916	-1.0118	10	0.56958	D	0.05	-10.4932	10.8939	0.47010	0.0:0.7974:0.0:0.2026	.	414;439;364;364	B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.;COQ6_HUMAN;.;.	F	414;364;364;439;127	ENSP00000377594:S414F;ENSP00000238709:S364F;ENSP00000333946:S439F	ENSP00000238709:S364F	S	+	2	0	COQ6	73498298	0.167000	0.22975	0.001000	0.08648	0.051000	0.14879	3.731000	0.55013	0.455000	0.26910	0.655000	0.94253	TCC		0.502	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			12	177	0	0	0	1	0	12	177				
ETV7	51513	broad.mit.edu	37	6	36343712	36343712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36343712C>A	ENST00000340181.4	-	3	484	c.243G>T	c.(241-243)gaG>gaT	p.E81D	ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Missense_Mutation_p.E81D|ETV7_ENST00000373737.4_Missense_Mutation_p.E81D	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	81	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GTCCGTTCATCTCGAACCCGT	0.647																																						ENST00000339796.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(241-243)gaG>gaT		ets variant 7							116.0	96.0	103.0					6																	36343712		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36343712C>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.243G>T	6.37:g.36343712C>A	ENSP00000341843:p.Glu81Asp					ETV7_ENST00000373738.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.E81D|ETV7_ENST00000373737.4_Missense_Mutation_p.E81D|ETV7_ENST00000538992.1_Intron	p.E81D	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN			3	1088	-			81			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.243G>T	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377138	0.42105	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737	T;T;T	0.28255	1.62;1.62;1.62	3.48	1.08	0.20341	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.194913	0.43260	D	0.000583	T	0.14141	0.0342	.	.	.	0.80722	D	1	B;D;D	0.63046	0.006;0.992;0.977	B;P;P	0.59595	0.012;0.771;0.86	T	0.27773	-1.0064	9	0.08381	T	0.77	.	3.3618	0.07189	0.0:0.4632:0.2628:0.274	.	81;81;81	Q9Y603-7;Q9Y603;Q9Y603-5	.;ETV7_HUMAN;.	D	81	ENSP00000342260:E81D;ENSP00000341843:E81D;ENSP00000362842:E81D	ENSP00000342260:E81D	E	-	3	2	ETV7	36451690	1.000000	0.71417	0.248000	0.24265	0.080000	0.17528	0.881000	0.28173	0.449000	0.26747	0.585000	0.79938	GAG		0.647	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		12	72	1	0	3.07112e-06	1	3.52574e-06	12	72				
PCDHGA12	26025	broad.mit.edu	37	5	140811962	140811962	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811962G>A	ENST00000252085.3	+	1	1778	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGCAACGTGTCGTTGAG	0.627																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1636-1638)Gtg>Atg									141.0	155.0	150.0					5																	140811962		2203	4300	6503	SO:0001583	missense	0							g.chr5:140811962G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1636G>A	5.37:g.140811962G>A	ENSP00000252085:p.Val546Met					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V546M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1778	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1636G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.283907	0.23392	.	.	ENSG00000253159	ENST00000252085	T	0.53640	0.61	5.19	5.19	0.71726	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.63988	0.2558	M	0.91920	3.255	0.09310	N	0.999998	P;D	0.54207	0.791;0.965	B;P	0.49953	0.306;0.627	T	0.64791	-0.6324	9	0.62326	D	0.03	.	9.4679	0.38824	0.0765:0.1442:0.7794:0.0	.	546;546	O60330-2;O60330	.;PCDGC_HUMAN	M	546	ENSP00000252085:V546M	ENSP00000252085:V546M	V	+	1	0	PCDHGA12	140792146	0.025000	0.19082	0.900000	0.35374	0.023000	0.10783	2.075000	0.41538	2.432000	0.82394	0.556000	0.70494	GTG		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		9	143	0	0	0	1	0	9	143				
PLCB3	5331	broad.mit.edu	37	11	64032853	64032853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64032853C>T	ENST00000540288.1	+	25	3017	c.2914C>T	c.(2914-2916)Cga>Tga	p.R972*	PLCB3_ENST00000325234.5_Nonsense_Mutation_p.R905*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.R972*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	972					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGCAAGAGCGAGACCTGCG	0.687																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(2914-2916)Cga>Tga		phospholipase C, beta 3 (phosphatidylinositol-specific)							16.0	20.0	19.0					11																	64032853		2186	4269	6455	SO:0001587	stop_gained	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64032853C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2914C>T	11.37:g.64032853C>T	ENSP00000443631:p.Arg972*					PLCB3_ENST00000325234.5_Nonsense_Mutation_p.R905*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.R972*	p.R972*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			25	3017	+			972					A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	ENST00000540288.1	37	c.2914C>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	37	6.615962	0.97709	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	5.2	5.2	0.72013	.	0.253721	0.36519	N	0.002548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.2179	0.65805	0.0:1.0:0.0:0.0	.	.	.	.	X	972;972;905	.	ENSP00000279230:R972X	R	+	1	2	PLCB3	63789429	1.000000	0.71417	0.999000	0.59377	0.316000	0.28119	3.805000	0.55575	2.445000	0.82738	0.561000	0.74099	CGA		0.687	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			6	14	0	0	0	1	0	6	14				
PKHD1L1	93035	broad.mit.edu	37	8	110464461	110464461	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110464461G>A	ENST00000378402.5	+	42	6563	c.6459G>A	c.(6457-6459)ggG>ggA	p.G2153G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2153	IPT/TIG 14.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCTATCAGGGTGGGCTCCAG	0.448										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(6457-6459)ggG>ggA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							119.0	113.0	115.0					8																	110464461		1942	4152	6094	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110464461G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6459G>A	8.37:g.110464461G>A		HNSCC(38;0.096)					p.G2153G	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		42	6563	+			2153			IPT/TIG 14.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.6459G>A	CCDS47911.1																																																																																				0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		33	36	0	0	0	1	0	33	36				
ZBTB7A	51341	broad.mit.edu	37	19	4054026	4054026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054026C>T	ENST00000322357.4	-	2	1483	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R402H	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	402					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGGTGCGGATGTGTCG	0.657																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1204-1206)cGc>cAc		zinc finger and BTB domain containing 7A							60.0	56.0	57.0					19																	4054026		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054026C>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1205G>A	19.37:g.4054026C>T	ENSP00000323670:p.Arg402His					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R402H	p.R402H	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1483	-		Hepatocellular(1079;0.137)	402					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1205G>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526472	0.64860	.	.	ENSG00000178951	ENST00000322357	T	0.25749	1.78	5.03	5.03	0.67393	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.56485	0.1988	M	0.84511	2.7	0.51482	D	0.99992	D	0.89917	1.0	D	0.80764	0.994	T	0.64613	-0.6366	10	0.87932	D	0	.	16.9262	0.86177	0.0:1.0:0.0:0.0	.	402	O95365	ZBT7A_HUMAN	H	402	ENSP00000323670:R402H	ENSP00000323670:R402H	R	-	2	0	ZBTB7A	4005026	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.707000	0.84623	2.336000	0.79503	0.462000	0.41574	CGC		0.657	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		17	31	0	0	0	1	0	17	31				
SLC6A20	54716	broad.mit.edu	37	3	45807174	45807174	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45807174C>A	ENST00000358525.4	-	8	1273	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	SLC6A20_ENST00000353278.4_Missense_Mutation_p.E349D|SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Missense_Mutation_p.E386D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	386					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCTGGGACACCTCCATGTTTT	0.577																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1156-1158)gaG>gaT		solute carrier family 6 (proline IMINO transporter), member 20							156.0	123.0	134.0					3																	45807174		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45807174C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1158G>T	3.37:g.45807174C>A	ENSP00000346298:p.Glu386Asp					SLC6A20_ENST00000353278.4_Missense_Mutation_p.E349D|SLC6A20_ENST00000456124.2_Missense_Mutation_p.E386D|SLC6A20_ENST00000493980.1_5'UTR	p.E386D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	8	1273	-			386					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1158G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643740	0.47258	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.74209	-0.82;-0.82;-0.82	5.71	3.91	0.45181	.	0.252568	0.41823	D	0.000808	T	0.59891	0.2227	N	0.24115	0.695	0.30534	N	0.767145	B;B	0.15473	0.01;0.013	B;B	0.19148	0.023;0.024	T	0.59679	-0.7409	10	0.87932	D	0	.	9.0414	0.36321	0.0:0.7807:0.0:0.2193	.	349;386	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	D	349;386;386	ENSP00000296133:E349D;ENSP00000346298:E386D;ENSP00000404310:E386D	ENSP00000296133:E349D	E	-	3	2	SLC6A20	45782178	0.909000	0.30893	1.000000	0.80357	0.999000	0.98932	0.009000	0.13219	0.737000	0.32582	0.655000	0.94253	GAG		0.577	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	51	1	0	0.014758	1	0.0152625	4	51				
MND1	84057	broad.mit.edu	37	4	154315439	154315439	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154315439C>T	ENST00000504860.1	+	4	300	c.257C>T	c.(256-258)gCa>gTa	p.A86V	MND1_ENST00000240488.3_Missense_Mutation_p.A101V					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CAAAAGCATGCAAGCCTACAG	0.333																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(301-303)gCa>gTa		meiotic nuclear divisions 1 homolog (S. cerevisiae)							105.0	104.0	105.0					4																	154315439		2203	4300	6503	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154315439C>T	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.257C>T	4.37:g.154315439C>T	ENSP00000422933:p.Ala86Val					MND1_ENST00000504860.1_Missense_Mutation_p.A86V	p.A101V	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			5	391	+	all_hematologic(180;0.093)		101						Missense_Mutation	SNP	ENST00000504860.1	37	c.302C>T		.	.	.	.	.	.	.	.	.	.	C	12.36	1.915621	0.33815	.	.	ENSG00000121211	ENST00000240488;ENST00000508731;ENST00000504860	.	.	.	5.72	3.78	0.43462	.	0.420852	0.29172	N	0.012939	T	0.29882	0.0747	L	0.33624	1.015	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13980	-1.0489	9	0.29301	T	0.29	-2.648	10.2346	0.43275	0.4384:0.5616:0.0:0.0	.	101	Q9BWT6	MND1_HUMAN	V	101;86;86	.	ENSP00000240488:A101V	A	+	2	0	MND1	154534889	0.000000	0.05858	0.088000	0.20740	0.976000	0.68499	0.769000	0.26604	1.393000	0.46605	0.655000	0.94253	GCA		0.333	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		4	30	0	0	0	1	0	4	30				
MAP1B	4131	broad.mit.edu	37	5	71482482	71482482	+	Silent	SNP	C	C	T	rs373867264		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71482482C>T	ENST00000296755.7	+	4	709	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	137					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAAGCTGCTCGTGCTGACCG	0.527																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(409-411)ctC>ctT		microtubule-associated protein 1B							122.0	119.0	120.0					5																	71482482		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71482482C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.411C>T	5.37:g.71482482C>T							p.L137L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	709	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	137					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.411C>T	CCDS4012.1																																																																																				0.527	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		40	61	0	0	0	1	0	40	61				
ECH1	1891	broad.mit.edu	37	19	39306645	39306645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39306645C>T	ENST00000221418.4	-	9	966	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	LGALS4_ENST00000307751.4_5'Flank	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	245					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGGAACACCCGGCTGCAGTG	0.617																																						ENST00000221418.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(733-735)cGg>cAg		enoyl CoA hydratase 1, peroxisomal							27.0	26.0	27.0					19																	39306645		2202	4297	6499	SO:0001583	missense	1891							g.chr19:39306645C>T	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.734G>A	19.37:g.39306645C>T	ENSP00000221418:p.Arg245Gln						p.R245Q	NM_001398.2	NP_001389.2			Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		9	966	-	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)							A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	c.734G>A	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672263	0.88348	.	.	ENSG00000104823	ENST00000221418	T	0.65916	-0.18	4.92	4.92	0.64577	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.77616	2.38	0.80722	D	1	D	0.54207	0.965	B	0.36335	0.222	T	0.70850	-0.4760	10	0.49607	T	0.09	.	17.0358	0.86474	0.0:1.0:0.0:0.0	.	245	Q13011	ECH1_HUMAN	Q	245	ENSP00000221418:R245Q	ENSP00000221418:R245Q	R	-	2	0	ECH1	43998485	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.149000	0.64863	2.545000	0.85829	0.561000	0.74099	CGG		0.617	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			6	19	0	0	0	1	0	6	19				
SAR1A	56681	broad.mit.edu	37	10	71920819	71920819	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71920819T>C	ENST00000373242.2	-	5	381	c.185A>G	c.(184-186)gAa>gGa	p.E62G	SAR1A_ENST00000458634.2_Missense_Mutation_p.E19G|SAR1A_ENST00000431664.2_Missense_Mutation_p.E62G|SAR1A_ENST00000477464.1_5'Flank|SAR1A_ENST00000373238.1_Missense_Mutation_p.E62G|SAR1A_ENST00000373236.1_Missense_Mutation_p.E62G|SAR1A_ENST00000373241.4_Missense_Mutation_p.E62G	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	62					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTTAGCTCTTCTGATGCTGA	0.358																																						ENST00000373238.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(184-186)gAa>gGa		SAR1 homolog A (S. cerevisiae)							150.0	152.0	151.0					10																	71920819		2203	4300	6503	SO:0001583	missense	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71920819T>C		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.185A>G	10.37:g.71920819T>C	ENSP00000362339:p.Glu62Gly					SAR1A_ENST00000373242.1_Missense_Mutation_p.E62G|SAR1A_ENST00000373236.1_Missense_Mutation_p.E62G|SAR1A_ENST00000373241.4_Missense_Mutation_p.E62G|SAR1A_ENST00000431664.2_Missense_Mutation_p.E62G|SAR1A_ENST00000458634.2_Missense_Mutation_p.E19G	p.E62G			Q9NR31	SAR1A_HUMAN			4	542	-			62					B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	c.185A>G	CCDS7298.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906972	0.92107	.	.	ENSG00000079332	ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000373236	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.28	5.28	0.74379	Small GTP-binding protein domain (1);	0.111159	0.64402	D	0.000012	D	0.83834	0.5340	M	0.89658	3.05	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	D	0.87438	0.2393	10	0.87932	D	0	.	14.3457	0.66662	0.0:0.0:0.0:1.0	.	62	Q9NR31	SAR1A_HUMAN	G	62;62;62;62;62;19;62	ENSP00000362338:E62G;ENSP00000362335:E62G;ENSP00000362339:E62G;ENSP00000399698:E62G;ENSP00000437979:E19G;ENSP00000362333:E62G	ENSP00000362333:E62G	E	-	2	0	SAR1A	71590825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	2.124000	0.65301	0.533000	0.62120	GAA		0.358	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			12	167	0	0	0	1	0	12	167				
TRPV3	162514	broad.mit.edu	37	17	3436060	3436060	+	Missense_Mutation	SNP	C	C	T	rs151284467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3436060C>T	ENST00000576742.1	-	8	1277	c.956G>A	c.(955-957)cGc>cAc	p.R319H	TRPV3_ENST00000572519.1_Missense_Mutation_p.R319H|TRPV3_ENST00000301365.4_Missense_Mutation_p.R319H	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	319					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.R319H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCGTACATGCGCTTCACAAA	0.602																																						ENST00000301365.4																			1	Substitution - Missense(1)	p.R319H(1)	endometrium(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(955-957)cGc>cAc		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						232.0	155.0	181.0					17																	3436060		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3436060C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.956G>A	17.37:g.3436060C>T	ENSP00000461518:p.Arg319His					TRPV3_ENST00000572519.1_Missense_Mutation_p.R319H|TRPV3_ENST00000576742.1_Missense_Mutation_p.R319H	p.R319H			Q8NET8	TRPV3_HUMAN			8	1087	-			319					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.956G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336591	0.24253	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.57273	0.41	5.19	-0.996	0.10218	Ankyrin repeat-containing domain (3);	0.351936	0.26991	N	0.021474	T	0.35913	0.0948	N	0.20685	0.6	0.31428	N	0.673415	B;B;P;B;B;B;P	0.51449	0.008;0.054;0.909;0.054;0.004;0.003;0.945	B;B;B;B;B;B;P	0.46076	0.004;0.012;0.306;0.012;0.001;0.001;0.503	T	0.47849	-0.9085	10	0.29301	T	0.29	-6.2098	10.3427	0.43889	0.0:0.5704:0.0:0.4296	.	303;303;319;303;319;319;319	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	H	319;319;303	ENSP00000301365:R319H	ENSP00000301365:R319H	R	-	2	0	TRPV3	3382810	0.000000	0.05858	0.998000	0.56505	0.240000	0.25518	-0.652000	0.05366	0.013000	0.14918	0.561000	0.74099	CGC		0.602	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		8	19	0	0	0	1	0	8	19				
LRRK1	79705	broad.mit.edu	37	15	101528954	101528954	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101528954C>T	ENST00000388948.3	+	5	908	c.549C>T	c.(547-549)taC>taT	p.Y183Y	LRRK1_ENST00000532029.2_Silent_p.Y183Y|LRRK1_ENST00000284395.5_Silent_p.Y180Y	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGAGAGCTACGCTGTCAGGA	0.617																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(538-540)taC>taT		leucine-rich repeat kinase 1							59.0	63.0	61.0					15																	101528954		2062	4184	6246	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528954C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.549C>T	15.37:g.101528954C>T						LRRK1_ENST00000532029.2_Silent_p.Y183Y|LRRK1_ENST00000388948.3_Silent_p.Y183Y	p.Y180Y			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	940	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		183						Silent	SNP	ENST00000388948.3	37	c.540C>T	CCDS42086.1																																																																																				0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		20	34	0	0	0	1	0	20	34				
MKI67	4288	broad.mit.edu	37	10	129913860	129913860	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129913860G>A	ENST00000368654.3	-	7	1187	c.812C>T	c.(811-813)gCa>gTa	p.A271V	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	271					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTCTGTTGCGTAATCAGT	0.433																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(811-813)gCa>gTa		marker of proliferation Ki-67							85.0	89.0	87.0					10																	129913860		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913860G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.812C>T	10.37:g.129913860G>A	ENSP00000357643:p.Ala271Val					MKI67_ENST00000368653.3_Intron	p.A271V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1187	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	271					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.812C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348702	0.24426	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.22134	1.97	3.59	0.466	0.16716	.	1.919400	0.02775	N	0.120183	T	0.15696	0.0378	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31752	-0.9932	10	0.87932	D	0	.	5.2451	0.15493	0.4668:0.0:0.5332:0.0	.	271	P46013	KI67_HUMAN	V	271	ENSP00000357643:A271V	ENSP00000357643:A271V	A	-	2	0	MKI67	129803850	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.072000	0.14617	0.100000	0.17581	-0.136000	0.14681	GCA		0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	63	0	0	0	1	0	4	63				
PEX5	5830	broad.mit.edu	37	12	7362699	7362699	+	Silent	SNP	G	G	A	rs370306007		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7362699G>A	ENST00000455147.2	+	17	2380	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	PEX5_ENST00000412720.2_Silent_p.S621S|PEX5_ENST00000434354.2_Silent_p.S615S|PEX5_ENST00000266564.3_Silent_p.S592S|PEX5_ENST00000420616.2_Silent_p.S600S|PEX5_ENST00000266563.5_Silent_p.S563S	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	600			S -> W (in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import). {ECO:0000269|PubMed:10462504}.		cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGCCATGTCGGAGAACATCT	0.592																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(1687-1689)tcG>tcA		peroxisomal biogenesis factor 5		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	68.0	63.0	65.0		1776,1845,1689,1800,1800	-9.9	0.4	12		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PEX5	NM_000319.4,NM_001131023.1,NM_001131024.1,NM_001131025.1,NM_001131026.1	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	592/632,615/655,563/603,600/640,600/640	7362699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7362699G>A	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1800G>A	12.37:g.7362699G>A						PEX5_ENST00000266564.3_Silent_p.S592S|PEX5_ENST00000412720.2_Silent_p.S621S|PEX5_ENST00000420616.2_Silent_p.S600S|PEX5_ENST00000455147.2_Silent_p.S600S|PEX5_ENST00000434354.2_Silent_p.S615S	p.S563S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			15	1872	+			600					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	c.1689G>A	CCDS44823.1																																																																																				0.592	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		25	43	0	0	0	1	0	25	43				
ALDH2	217	broad.mit.edu	37	12	112229905	112229905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112229905T>C	ENST00000261733.2	+	8	897	c.836T>C	c.(835-837)cTc>cCc	p.L279P	ALDH2_ENST00000416293.3_Missense_Mutation_p.L232P	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	279					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	AGCAGCAACCTCAAGAGAGTG	0.557			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(835-837)cTc>cCc		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						46.0	52.0	50.0					12																	112229905		2203	4300	6503	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112229905T>C	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.836T>C	12.37:g.112229905T>C	ENSP00000261733:p.Leu279Pro					ALDH2_ENST00000416293.3_Missense_Mutation_p.L232P	p.L279P	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			8	897	+			279					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.836T>C	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199260	0.79015	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.80653	-1.4;-1.4	5.4	5.4	0.78164	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.996;0.999	D	0.94772	0.7946	10	0.87932	D	0	.	15.4348	0.75137	0.0:0.0:0.0:1.0	.	232;203;279	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	P	232;279;203;139	ENSP00000403349:L232P;ENSP00000261733:L279P	ENSP00000261733:L279P	L	+	2	0	ALDH2	110714288	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.583000	0.82559	2.048000	0.60808	0.533000	0.62120	CTC		0.557	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		3	54	0	0	0	1	0	3	54				
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249233G>A	ENST00000269346.4	+	12	1347	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	TTYH2_ENST00000529107.1_Missense_Mutation_p.D404N|TTYH2_ENST00000441391.2_Missense_Mutation_p.D104N	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	425	Poly-Asp.					chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAGAGACTACGATGACATTGA	0.572																																						ENST00000441391.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(310-312)Gat>Aat		tweety family member 2							138.0	134.0	135.0					17																	72249233		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72249233G>A		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1273G>A	17.37:g.72249233G>A	ENSP00000269346:p.Asp425Asn					TTYH2_ENST00000269346.4_Missense_Mutation_p.D425N|TTYH2_ENST00000529107.1_Missense_Mutation_p.D404N	p.D104N	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN			6	1522	+			425					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.310G>A	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803400	0.31869	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.13778	2.56;2.56;2.56	4.51	1.32	0.21799	.	0.305062	0.32687	N	0.005776	T	0.13415	0.0325	L	0.59967	1.855	0.39135	D	0.961927	B;B	0.18968	0.031;0.032	B;B	0.24006	0.011;0.05	T	0.06144	-1.0843	10	0.49607	T	0.09	-9.2582	7.0837	0.25245	0.4189:0.0:0.5811:0.0	.	404;425	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	N	425;404;104	ENSP00000269346:D425N;ENSP00000433089:D404N;ENSP00000394576:D104N	ENSP00000269346:D425N	D	+	1	0	TTYH2	69760828	1.000000	0.71417	0.036000	0.18154	0.707000	0.40811	3.212000	0.51145	0.108000	0.17862	-0.254000	0.11334	GAT		0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			46	80	0	0	0	1	0	46	80				
B3GALNT2	148789	broad.mit.edu	37	1	235647671	235647671	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235647671G>A	ENST00000366600.3	-	4	750	c.522C>T	c.(520-522)aaC>aaT	p.N174N	B3GALNT2_ENST00000494378.1_5'UTR|B3GALNT2_ENST00000313984.3_Silent_p.N215N	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	174					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGACAGTGATGTTCCTCTGGA	0.423																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(520-522)aaC>aaT		beta-1,3-N-acetylgalactosaminyltransferase 2							140.0	131.0	134.0					1																	235647671		2203	4300	6503	SO:0001819	synonymous_variant	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235647671G>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.522C>T	1.37:g.235647671G>A						B3GALNT2_ENST00000313984.3_Silent_p.N215N|B3GALNT2_ENST00000478199.1_5'UTR	p.N174N	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		4	750	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	174					Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	c.522C>T	CCDS1606.1																																																																																				0.423	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		44	72	0	0	0	1	0	44	72				
VARS	7407	broad.mit.edu	37	6	31752244	31752244	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31752244G>T	ENST00000375663.3	-	12	1943	c.1503C>A	c.(1501-1503)ctC>ctA	p.L501L	VARS_ENST00000444930.2_Silent_p.L206L|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	501					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGGCACGGAGAGCAGGGTGC	0.592																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1501-1503)ctC>ctA		valyl-tRNA synthetase	L-Valine(DB00161)						77.0	81.0	80.0					6																	31752244		2203	4300	6503	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752244G>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1503C>A	6.37:g.31752244G>T						VARS_ENST00000444930.2_Silent_p.L206L	p.L501L	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			12	1943	-			501					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.1503C>A	CCDS34412.1																																																																																				0.592	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		8	82	1	0	1.12685e-05	1	1.27857e-05	8	82				
MFSD2A	84879	broad.mit.edu	37	1	40432323	40432323	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40432323C>A	ENST00000372809.5	+	7	947	c.804C>A	c.(802-804)atC>atA	p.I268I	MFSD2A_ENST00000420632.2_Silent_p.I99I|MFSD2A_ENST00000372811.5_Silent_p.I255I|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	268					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTATATAATCTGTGCTGTCA	0.542																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(802-804)atC>atA		major facilitator superfamily domain containing 2A							136.0	128.0	131.0					1																	40432323		2203	4300	6503	SO:0001819	synonymous_variant	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40432323C>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.804C>A	1.37:g.40432323C>A						MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.I255I|MFSD2A_ENST00000420632.2_Silent_p.I99I	p.I268I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			7	947	+			268					A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	c.804C>A	CCDS44118.1																																																																																				0.542	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		33	99	1	0	1.06647e-15	1	1.37037e-15	33	99				
ZSCAN32	54925	broad.mit.edu	37	16	3434410	3434410	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3434410T>C	ENST00000396852.4	-	6	1542				ZSCAN32_ENST00000304926.3_Intron|NAA60_ENST00000576906.1_3'UTR|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Nonstop_Mutation_p.*428W|ZSCAN32_ENST00000422427.2_Nonstop_Mutation_p.*216W|ZSCAN32_ENST00000396846.3_Intron|ZSCAN32_ENST00000573830.1_Nonstop_Mutation_p.*139W	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										TAATGGCCTCTAAAGTGGACT	0.483																																						ENST00000574940.1																			0											c.(1282-1284)tAg>tGg		zinc finger and SCAN domain containing 32							79.0	71.0	73.0					16																	3434410		2197	4300	6497	SO:0001627	intron_variant	54925							g.chr16:3434410T>C	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1234+48A>G	16.37:g.3434410T>C						ZSCAN32_ENST00000304926.3_Intron|ZSCAN32_ENST00000396852.4_Intron|ZSCAN32_ENST00000422427.2_Nonstop_Mutation_p.*216W|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000573830.1_Nonstop_Mutation_p.*139W|ZSCAN32_ENST00000396846.3_Intron|LA16c-306E5.2_ENST00000575785.1_RNA	p.*428W							5	1470	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Nonstop_Mutation	SNP	ENST00000396852.4	37	c.1283A>G		.	.	.	.	.	.	.	.	.	.	T	2.608	-0.291517	0.05568	.	.	ENSG00000140987	ENST00000422427	.	.	.	3.05	0.685	0.18009	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2974	0.15760	0.0:0.2758:0.0:0.7242	.	.	.	.	W	216	.	.	X	-	2	0	ZNF434	3374411	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.009000	0.12765	-0.008000	0.14320	-0.274000	0.10170	TAG		0.483	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		4	82	0	0	0	1	0	4	82				
POLB	5423	broad.mit.edu	37	8	42196180	42196180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42196180G>T	ENST00000265421.4	+	1	208	c.38G>T	c.(37-39)gGg>gTg	p.G13V	POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	13					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTCTCAACGGGGGAATCACC	0.622								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(37-39)gGg>gTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						73.0	83.0	80.0					8																	42196180		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42196180G>T		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.38G>T	8.37:g.42196180G>T	ENSP00000265421:p.Gly13Val					POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_5'UTR	p.G13V	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		1	208	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	13					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.38G>T	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037284	0.35893	.	.	ENSG00000070501	ENST00000265421;ENST00000518925	T;T	0.40225	1.04;1.04	4.53	2.57	0.30868	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.164638	0.51477	D	0.000088	T	0.25938	0.0632	N	0.19112	0.55	0.80722	D	1	B;B	0.23058	0.079;0.079	B;B	0.23275	0.045;0.045	T	0.06698	-1.0812	10	0.30854	T	0.27	-3.8839	10.5882	0.45294	0.0:0.3809:0.6191:0.0	.	13;13	Q53EV2;P06746	.;DPOLB_HUMAN	V	13	ENSP00000265421:G13V;ENSP00000430784:G13V	ENSP00000265421:G13V	G	+	2	0	POLB	42315337	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.761000	0.38440	1.263000	0.44181	-0.481000	0.04817	GGG		0.622	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		11	93	1	0	3.07112e-06	1	3.52574e-06	11	93				
TBC1D31	93594	broad.mit.edu	37	8	124117638	124117638	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124117638T>C	ENST00000287380.1	+	8	1233	c.1143T>C	c.(1141-1143)tcT>tcC	p.S381S	TBC1D31_ENST00000327098.5_Silent_p.S381S|TBC1D31_ENST00000309336.3_Silent_p.S381S|TBC1D31_ENST00000518805.1_Silent_p.S14S|TBC1D31_ENST00000378080.2_Silent_p.S276S|TBC1D31_ENST00000522420.1_Silent_p.S276S|TBC1D31_ENST00000521676.1_Silent_p.S276S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	381						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CAGCAAAATCTAGGGAAAGCA	0.333																																						ENST00000287380.1																			0											c.(1141-1143)tcT>tcC		TBC1 domain family, member 31							64.0	63.0	63.0					8																	124117638		2203	4300	6503	SO:0001819	synonymous_variant	93594							g.chr8:124117638T>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1143T>C	8.37:g.124117638T>C						TBC1D31_ENST00000518805.1_Silent_p.S14S|TBC1D31_ENST00000309336.3_Silent_p.S381S|TBC1D31_ENST00000522420.1_Silent_p.S276S|TBC1D31_ENST00000378080.2_Silent_p.S276S|TBC1D31_ENST00000327098.5_Silent_p.S381S|TBC1D31_ENST00000521676.1_Silent_p.S276S	p.S381S	NM_145647.3	NP_663622.2					8	1233	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.1143T>C	CCDS6338.1																																																																																				0.333	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		5	29	0	0	0	1	0	5	29				
ABCC1	4363	broad.mit.edu	37	16	16101790	16101790	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16101790T>C	ENST00000399410.3	+	2	341	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	ABCC1_ENST00000399408.2_Missense_Mutation_p.Y56H|ABCC1_ENST00000346370.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000351154.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000345148.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000349029.5_Missense_Mutation_p.Y56H	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	56					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CTACTTCCTCTATCTCTCCCG	0.522																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(166-168)Tat>Cat		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						214.0	197.0	202.0					16																	16101790		1923	4129	6052	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16101790T>C	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.166T>C	16.37:g.16101790T>C	ENSP00000382342:p.Tyr56His					ABCC1_ENST00000345148.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000349029.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000399410.3_Missense_Mutation_p.Y56H|ABCC1_ENST00000351154.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000346370.5_Missense_Mutation_p.Y56H	p.Y56H			P33527	MRP1_HUMAN			2	341	+			56					A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.166T>C	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.567965	0.45798	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	4.84	2.53	0.30540	.	0.269234	0.37669	N	0.001995	T	0.19046	0.0457	L	0.54908	1.71	0.38846	D	0.956175	B;B;B;B;B	0.16166	0.003;0.004;0.016;0.003;0.005	B;B;B;B;B	0.24269	0.005;0.046;0.052;0.003;0.016	T	0.06041	-1.0849	10	0.33141	T	0.24	-1.9359	7.6299	0.28232	0.0:0.1889:0.0:0.8111	.	56;56;56;56;56	P33527-5;P33527-4;P33527-3;P33527-2;P33527	.;.;.;.;MRP1_HUMAN	H	56	ENSP00000382342:Y56H;ENSP00000382340:Y56H;ENSP00000263019:Y56H;ENSP00000263017:Y56H;ENSP00000263014:Y56H;ENSP00000263016:Y56H	ENSP00000263014:Y56H	Y	+	1	0	ABCC1	16009291	0.333000	0.24731	1.000000	0.80357	0.985000	0.73830	0.646000	0.24797	0.228000	0.21019	0.519000	0.50382	TAT		0.522	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		30	50	0	0	0	1	0	30	50				
ACRV1	56	broad.mit.edu	37	11	125547891	125547891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125547891C>T	ENST00000533904.1	-	2	696	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Silent_p.Q48Q|ACRV1_ENST00000453509.1_Silent_p.Q48Q|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000315608.3_Silent_p.Q118Q|ACRV1_ENST00000348856.3_Silent_p.Q63Q|ACRV1_ENST00000530048.1_Silent_p.Q63Q|ACRV1_ENST00000345274.1_Silent_p.Q48Q			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	118	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CACCTGAAGGCTGTTCTCCTG	0.542																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(352-354)caG>caA		acrosomal vesicle protein 1							158.0	140.0	146.0					11																	125547891		2201	4299	6500	SO:0001819	synonymous_variant	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547891C>T	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.354G>A	11.37:g.125547891C>T						ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000426183.1_Silent_p.Q48Q|ACRV1_ENST00000257382.2_Silent_p.Q63Q|ACRV1_ENST00000433875.1_Silent_p.Q118Q|ACRV1_ENST00000345274.1_Silent_p.Q48Q|ACRV1_ENST00000348856.3_Silent_p.Q63Q|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000453509.1_Silent_p.Q48Q	p.Q118Q			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	696	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	118			4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].		Q53FF4	Silent	SNP	ENST00000533904.1	37	c.354G>A	CCDS8460.1																																																																																				0.542	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		31	65	0	0	0	1	0	31	65				
PHAX	51808	broad.mit.edu	37	5	125939420	125939420	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939420G>T	ENST00000297540.4	+	2	950	c.255G>T	c.(253-255)caG>caT	p.Q85H	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	85	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCAAACGACAGAAATGTTTTA	0.423																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(253-255)caG>caT		phosphorylated adaptor for RNA export							116.0	118.0	117.0					5																	125939420		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125939420G>T	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.255G>T	5.37:g.125939420G>T	ENSP00000297540:p.Gln85His					PHAX_ENST00000514725.1_3'UTR	p.Q85H	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			2	950	+			85			Necessary for interaction with CBP80 (By similarity).		Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.255G>T	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523956	0.64747	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.24151	1.87	5.74	1.96	0.26148	.	0.054285	0.85682	D	0.000000	T	0.42720	0.1215	M	0.66939	2.045	0.49483	D	0.999797	D	0.76494	0.999	D	0.66847	0.947	T	0.14727	-1.0462	10	0.35671	T	0.21	-4.1266	10.8643	0.46844	0.2583:0.0:0.7417:0.0	.	85	Q9H814	PHAX_HUMAN	H	85	ENSP00000297540:Q85H	ENSP00000297540:Q85H	Q	+	3	2	PHAX	125967319	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.231000	0.43009	0.359000	0.24239	-0.137000	0.14449	CAG		0.423	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		12	122	1	0	9.05144e-12	1	1.1316e-11	12	122				
KIF22	3835	broad.mit.edu	37	16	29810712	29810712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29810712C>A	ENST00000160827.4	+	6	927	c.887C>A	c.(886-888)gCc>gAc	p.A296D	KIF22_ENST00000561482.1_Missense_Mutation_p.A228D|KIF22_ENST00000400751.5_Missense_Mutation_p.A228D|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.A228D	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	296	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GAGAGTGGAGCCATCAACACC	0.557																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(682-684)gCc>gAc		kinesin family member 22							90.0	86.0	88.0					16																	29810712		2197	4300	6497	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810712C>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.887C>A	16.37:g.29810712C>A	ENSP00000160827:p.Ala296Asp					KIF22_ENST00000160827.4_Missense_Mutation_p.A296D|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.A228D|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.A228D	p.A228D	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			6	1320	+			296			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.683C>A	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457590	0.84317	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75260	-0.92;-0.92	5.82	5.82	0.92795	Kinesin, motor domain (4);	.	.	.	.	D	0.85173	0.5636	M	0.69358	2.11	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.73380	0.98;0.944	D	0.85822	0.1386	9	0.72032	D	0.01	.	17.5712	0.87934	0.0:1.0:0.0:0.0	.	228;296	B7Z265;Q14807	.;KIF22_HUMAN	D	296;228	ENSP00000160827:A296D;ENSP00000383562:A228D	ENSP00000160827:A296D	A	+	2	0	KIF22	29718213	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	4.047000	0.57383	2.750000	0.94351	0.561000	0.74099	GCC		0.557	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			18	43	1	0	1.37522e-17	1	1.78525e-17	18	43				
HK2	3099	broad.mit.edu	37	2	75107511	75107511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75107511G>A	ENST00000290573.2	+	10	1985	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q	HK2_ENST00000409174.1_Missense_Mutation_p.R434Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	462	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGCTTACCGGCTGGCCGAT	0.612																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1384-1386)cGg>cAg		hexokinase 2							63.0	68.0	66.0					2																	75107511		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107511G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1385G>A	2.37:g.75107511G>A	ENSP00000290573:p.Arg462Gln					HK2_ENST00000409174.1_Missense_Mutation_p.R434Q	p.R462Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			10	1985	+			462			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1385G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511833	0.85389	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96967	-4.19;-4.19	5.08	5.08	0.68730	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96558	0.9413	10	0.35671	T	0.21	-18.3357	16.344	0.83117	0.0:0.0:1.0:0.0	.	462	P52789	HXK2_HUMAN	Q	462;462;434	ENSP00000290573:R462Q;ENSP00000387140:R434Q	ENSP00000290573:R462Q	R	+	2	0	HK2	74961019	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.601000	0.98297	2.806000	0.96561	0.655000	0.94253	CGG		0.612	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		38	59	0	0	0	1	0	38	59				
NKTR	4820	broad.mit.edu	37	3	42678574	42678574	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678574C>A	ENST00000232978.8	+	13	1566	c.1378C>A	c.(1378-1380)Ctt>Att	p.L460I	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	460					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAAGGATTCTTATACCGTC	0.363																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1378-1380)Ctt>Att		natural killer-tumor recognition sequence							48.0	44.0	45.0					3																	42678574		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678574C>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1378C>A	3.37:g.42678574C>A	ENSP00000232978:p.Leu460Ile					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.L460I	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	1566	+			460						Missense_Mutation	SNP	ENST00000232978.8	37	c.1378C>A	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.180781	0.00308	.	.	ENSG00000114857	ENST00000232978	T	0.11277	2.79	5.72	-4.38	0.03622	.	0.852017	0.10542	N	0.662517	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43669	-0.9377	10	0.16420	T	0.52	0.0027	1.4027	0.02274	0.2387:0.2723:0.3287:0.1602	.	160;460	Q6M1B8;P30414	.;NKTR_HUMAN	I	460	ENSP00000232978:L460I	ENSP00000232978:L460I	L	+	1	0	NKTR	42653578	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.174000	0.09839	-0.544000	0.06232	-0.165000	0.13383	CTT		0.363	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		23	35	1	0	2.89027e-11	1	3.59474e-11	23	35				
DLC1	10395	broad.mit.edu	37	8	13356716	13356716	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356716A>G	ENST00000276297.4	-	2	1274	c.865T>C	c.(865-867)Tca>Cca	p.S289P	DLC1_ENST00000511869.1_Missense_Mutation_p.S289P|DLC1_ENST00000316609.5_Missense_Mutation_p.S289P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	289					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCAGCTGACATTCCATTG	0.433																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(865-867)Tca>Cca		deleted in liver cancer 1							177.0	173.0	175.0					8																	13356716		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356716A>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.865T>C	8.37:g.13356716A>G	ENSP00000276297:p.Ser289Pro					DLC1_ENST00000316609.5_Missense_Mutation_p.S289P|DLC1_ENST00000511869.1_Missense_Mutation_p.S289P	p.S289P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	1274	-			289					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.865T>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525625	0.44969	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.14516	3.4;2.5;2.52	4.21	4.21	0.49690	.	0.261302	0.20432	N	0.092454	T	0.25568	0.0622	L	0.50333	1.59	0.28522	N	0.913032	D;D;B	0.63880	0.993;0.986;0.38	P;P;B	0.61201	0.885;0.801;0.125	T	0.01998	-1.1232	10	0.54805	T	0.06	.	9.9236	0.41478	0.8154:0.1846:0.0:0.0	.	289;289;289	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	P	289	ENSP00000276297:S289P;ENSP00000321034:S289P;ENSP00000425878:S289P	ENSP00000276297:S289P	S	-	1	0	DLC1	13401087	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.688000	0.37690	2.139000	0.66308	0.533000	0.62120	TCA		0.433	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		53	88	0	0	0	1	0	53	88				
EIF3A	8661	broad.mit.edu	37	10	120802156	120802156	+	Missense_Mutation	SNP	C	C	T	rs558278066		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120802156C>T	ENST00000369144.3	-	19	3003	c.2876G>A	c.(2875-2877)cGg>cAg	p.R959Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R925Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATGCCACGCCGGGGAACCCG	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		14556	0.0		0.0	False		,,,				2504	0.001					ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(2875-2877)cGg>cAg		eukaryotic translation initiation factor 3, subunit A							113.0	116.0	115.0					10																	120802156		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802156C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2876G>A	10.37:g.120802156C>T	ENSP00000358140:p.Arg959Gln					EIF3A_ENST00000541549.1_Missense_Mutation_p.R925Q|EIF3A_ENST00000478852.1_Intron	p.R959Q	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3003	-		Lung NSC(174;0.094)|all_lung(145;0.123)	959			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2876G>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604929	0.87157	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25250	1.83;1.81	6.17	5.26	0.73747	.	0.000000	0.37095	N	0.002246	T	0.32041	0.0816	M	0.83483	2.645	0.50171	D	0.999851	B	0.21688	0.059	B	0.11329	0.006	T	0.10823	-1.0613	10	0.37606	T	0.19	-13.5618	10.8346	0.46679	0.0:0.8012:0.1316:0.0672	.	959	Q14152	EIF3A_HUMAN	Q	959;925	ENSP00000358140:R959Q;ENSP00000438178:R925Q	ENSP00000358140:R959Q	R	-	2	0	EIF3A	120792146	0.689000	0.27690	0.975000	0.42487	0.904000	0.53231	2.883000	0.48554	1.586000	0.49944	0.655000	0.94253	CGG		0.582	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		58	76	0	0	0	1	0	58	76				
NOP56	10528	broad.mit.edu	37	20	2634034	2634034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2634034C>A	ENST00000329276.5	+	3	719	c.203C>A	c.(202-204)tCt>tAt	p.S68Y	SNORA51_ENST00000606420.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	68					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACGCCGTGTCTGAAGGTAAG	0.542																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(202-204)tCt>tAt		NOP56 ribonucleoprotein							168.0	144.0	152.0					20																	2634034		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2634034C>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.203C>A	20.37:g.2634034C>A	ENSP00000370589:p.Ser68Tyr						p.S68Y	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			3	719	+			68					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.203C>A	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192121	0.94923	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.60672	0.17;0.77	5.59	5.59	0.84812	NOP5, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83207	0.5204	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.88126	0.2835	10	0.87932	D	0	-10.2025	15.1562	0.72743	0.0:1.0:0.0:0.0	.	68	O00567	NOP56_HUMAN	Y	68	ENSP00000370589:S68Y;ENSP00000388497:S68Y	ENSP00000370589:S68Y	S	+	2	0	NOP56	2582034	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.200000	0.77838	2.639000	0.89480	0.555000	0.69702	TCT		0.542	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		35	37	1	0	4.11147e-13	1	5.20562e-13	35	37				
KIR3DX1	90011	broad.mit.edu	37	19	55048342	55048342	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55048342C>A	ENST00000335056.3	+	5	947	c.909C>A	c.(907-909)ccC>ccA	p.P303P	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	303	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ATGACTCTCCCTATAAGCCCC	0.572																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(907-909)ccC>ccA									78.0	76.0	76.0					19																	55048342		1939	4153	6092	SO:0001819	synonymous_variant	0							g.chr19:55048342C>A	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.909C>A	19.37:g.55048342C>A						KIR3DX1_ENST00000482404.1_3'UTR	p.P303P						GBM - Glioblastoma multiforme(193;0.099)	5	947	+								B7WNL0|Q8N0S4	Silent	SNP	ENST00000335056.3	37	c.909C>A																																																																																					0.572	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		5	68	1	0	0.0293803	1	0.0301098	5	68				
PER3	8863	broad.mit.edu	37	1	7886619	7886619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7886619C>T	ENST00000361923.2	+	16	2188	c.2013C>T	c.(2011-2013)caC>caT	p.H671H	PER3_ENST00000377532.3_Silent_p.H679H|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	671	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTAAACACGTGGGGCTCA	0.512																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2035-2037)caC>caT		period circadian clock 3							61.0	57.0	59.0					1																	7886619		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7886619C>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2013C>T	1.37:g.7886619C>T						PER3_ENST00000361923.2_Silent_p.H671H|RP3-467L1.4_ENST00000451646.1_RNA	p.H679H			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	16	2261	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	671			CSNK1E binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.2037C>T	CCDS89.1																																																																																				0.512	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		7	40	0	0	0	1	0	7	40				
FMO2	2327	broad.mit.edu	37	1	171173168	171173168	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171173168C>T	ENST00000209929.7	+	6	950	c.792C>T	c.(790-792)ttC>ttT	p.F264F	RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Silent_p.F264F|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	264					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCGGTGGTTCAACCATGAAA	0.433																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(790-792)ttC>ttT		flavin containing monooxygenase 2 (non-functional)							96.0	82.0	87.0					1																	171173168		2203	4300	6503	SO:0001819	synonymous_variant	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171173168C>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.792C>T	1.37:g.171173168C>T						RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Silent_p.F264F|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	p.F264F	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			6	909	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		264					Q53XR0	Silent	SNP	ENST00000209929.7	37	c.792C>T	CCDS1293.1																																																																																				0.433	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		16	39	0	0	0	1	0	16	39				
PGM2	55276	broad.mit.edu	37	4	37848641	37848641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37848641G>A	ENST00000381967.4	+	9	1197	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	PGM2_ENST00000544359.1_Missense_Mutation_p.R227H|PGM2_ENST00000537241.1_Missense_Mutation_p.R206H	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	366					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AACCAGGATCGCAGTGCTCTC	0.488																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1096-1098)cGc>cAc		phosphoglucomutase 2							127.0	133.0	131.0					4																	37848641		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848641G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1097G>A	4.37:g.37848641G>A	ENSP00000371393:p.Arg366His					PGM2_ENST00000544359.1_Missense_Mutation_p.R227H|PGM2_ENST00000537241.1_Missense_Mutation_p.R206H	p.R366H	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			9	1197	+			366					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1097G>A	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454250	0.26161	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T	0.39229	1.09;1.89	5.78	-7.6	0.01303	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	1.167870	0.05767	N	0.606082	T	0.19846	0.0477	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.20940	-1.0260	10	0.44086	T	0.13	0.6737	4.224	0.10572	0.3417:0.4244:0.0841:0.1498	.	366;227	Q96G03;B4E0G8	PGM2_HUMAN;.	H	366;227;206	ENSP00000371393:R366H;ENSP00000437342:R206H	ENSP00000371393:R366H	R	+	2	0	PGM2	37525036	0.000000	0.05858	0.016000	0.15963	0.196000	0.23810	-0.740000	0.04861	-1.029000	0.03317	0.655000	0.94253	CGC		0.488	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		16	109	0	0	0	1	0	16	109				
ENPP7	339221	broad.mit.edu	37	17	77709177	77709177	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77709177C>T	ENST00000328313.5	+	3	956	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATCACATCCGACCACGGCA	0.617																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(733-735)tcC>tcT		ectonucleotide pyrophosphatase/phosphodiesterase 7							105.0	86.0	93.0					17																	77709177		2203	4300	6503	SO:0001819	synonymous_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709177C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.735C>T	17.37:g.77709177C>T							p.S245S	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	956	+			245						Silent	SNP	ENST00000328313.5	37	c.735C>T	CCDS11763.1																																																																																				0.617	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		22	37	0	0	0	1	0	22	37				
FYB	2533	broad.mit.edu	37	5	39202952	39202952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39202952G>A	ENST00000351578.6	-	2	301	c.111C>T	c.(109-111)aaC>aaT	p.N37N	FYB_ENST00000515010.1_Silent_p.N37N|FYB_ENST00000540520.1_Silent_p.N47N|FYB_ENST00000512982.1_Silent_p.N37N|FYB_ENST00000505428.1_Silent_p.N37N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	37					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTGAATAAGTTCTTTCTTG	0.507																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(109-111)aaC>aaT		FYN binding protein							76.0	73.0	74.0					5																	39202952		1920	4134	6054	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202952G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.111C>T	5.37:g.39202952G>A						FYB_ENST00000505428.1_Silent_p.N37N|FYB_ENST00000515010.1_Silent_p.N37N|FYB_ENST00000540520.1_Silent_p.N47N|FYB_ENST00000512982.1_Silent_p.N37N	p.N37N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	301	-	all_lung(31;0.000343)		37					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.111C>T	CCDS47200.1																																																																																				0.507	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		14	31	0	0	0	1	0	14	31				
SSPO	23145	broad.mit.edu	37	7	149491916	149491916	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149491916T>C	ENST00000378016.2	+	0	6117							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCACTCCTGCCGCAGCTC	0.612																																						ENST00000378016.2																			0													SCO-spondin							45.0	55.0	52.0					7																	149491916		2073	4221	6294			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149491916T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149491916T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6117	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	73	0	0	0	1	0	3	73				
IQSEC3	440073	broad.mit.edu	37	12	266833	266833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266833C>T	ENST00000538872.1	+	7	2534	c.2416C>T	c.(2416-2418)Ctg>Ttg	p.L806L	IQSEC3_ENST00000382841.2_Silent_p.L503L|IQSEC3_ENST00000326261.4_Silent_p.L806L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	806	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAAGATGATGCTGGAGGACTT	0.592																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2416-2418)Ctg>Ttg		IQ motif and Sec7 domain 3							235.0	175.0	195.0					12																	266833		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266833C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2416C>T	12.37:g.266833C>T						IQSEC3_ENST00000382841.2_Silent_p.L503L|IQSEC3_ENST00000326261.4_Silent_p.L806L	p.L806L			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	7	2534	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		806			SEC7.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2416C>T	CCDS53728.1																																																																																				0.592	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		6	59	0	0	0	1	0	6	59				
VPS26A	9559	broad.mit.edu	37	10	70916787	70916787	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70916787C>A	ENST00000373382.1	+	5	907	c.254C>A	c.(253-255)aCt>aAt	p.T85N	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Missense_Mutation_p.T85N|VPS26A_ENST00000489794.1_Missense_Mutation_p.T60N|VPS26A_ENST00000263559.6_Missense_Mutation_p.T85N|VPS26A_ENST00000546041.1_Missense_Mutation_p.T68N|VPS26A_ENST00000541711.1_5'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	85					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AAGAGTAATACTCATGAATTT	0.318																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(253-255)aCt>aAt		vacuolar protein sorting 26 homolog A (S. pombe)							49.0	48.0	49.0					10																	70916787		2202	4300	6502	SO:0001583	missense	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70916787C>A	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.254C>A	10.37:g.70916787C>A	ENSP00000362480:p.Thr85Asn					VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_Missense_Mutation_p.T68N|VPS26A_ENST00000489794.1_Missense_Mutation_p.T60N|VPS26A_ENST00000263559.6_Missense_Mutation_p.T85N|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000395098.1_Missense_Mutation_p.T85N	p.T85N			O75436	VP26A_HUMAN			5	907	+			85					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	c.254C>A	CCDS7286.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248573	0.80024	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000395098;ENST00000546041	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	N	0.22421	0.69	0.80722	D	1	D;D;B	0.58620	0.979;0.983;0.003	D;D;B	0.71870	0.972;0.975;0.02	T	0.59721	-0.7401	9	0.27785	T	0.31	-7.6475	20.3431	0.98773	0.0:1.0:0.0:0.0	.	68;85;85	F5H4L7;A8MZ56;O75436	.;.;VP26A_HUMAN	N	85;85;85;68	.	ENSP00000263559:T85N	T	+	2	0	VPS26A	70586793	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	ACT		0.318	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		10	25	1	0	2.17888e-05	1	2.45068e-05	10	25				
DYNC2H1	79659	broad.mit.edu	37	11	103055642	103055642	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103055642A>T	ENST00000375735.2	+	41	6639	c.6495A>T	c.(6493-6495)gaA>gaT	p.E2165D	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2165D	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2165					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGTGGTAGAAACAAGTTTGG	0.373																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(6493-6495)gaA>gaT		dynein, cytoplasmic 2, heavy chain 1							200.0	190.0	193.0					11																	103055642		1891	4108	5999	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103055642A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6495A>T	11.37:g.103055642A>T	ENSP00000364887:p.Glu2165Asp					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2165D	p.E2165D	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	41	6639	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2165					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6495A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467862	0.43839	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26067	1.76;1.76	5.24	2.83	0.33086	.	.	.	.	.	T	0.16896	0.0406	L	0.31120	0.905	0.35744	D	0.81889	B;B	0.20368	0.026;0.044	B;B	0.20577	0.013;0.03	T	0.16778	-1.0391	9	0.15952	T	0.53	.	10.0251	0.42066	0.8595:0.0:0.1405:0.0	.	2165;2165	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	D	2165	ENSP00000364887:E2165D;ENSP00000381167:E2165D	ENSP00000364887:E2165D	E	+	3	2	DYNC2H1	102560852	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.884000	0.39668	0.368000	0.24481	0.377000	0.23210	GAA		0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	86	0	0	0	1	0	7	86				
PRPS2	5634	broad.mit.edu	37	X	12837722	12837722	+	Silent	SNP	C	C	T	rs371983873		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12837722C>T	ENST00000380668.5	+	5	755	c.627C>T	c.(625-627)ggC>ggT	p.G209G	PRPS2_ENST00000398491.2_Silent_p.G212G	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	209					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.G209G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TCCTGGTGGGCGACGTGAAGG	0.557																																						ENST00000380668.5																			1	Substitution - coding silent(1)	p.G209G(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(625-627)ggC>ggT		phosphoribosyl pyrophosphate synthetase 2							253.0	219.0	231.0					X																	12837722		2203	4300	6503	SO:0001819	synonymous_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837722C>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.627C>T	X.37:g.12837722C>T						PRPS2_ENST00000398491.2_Silent_p.G212G	p.G209G	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			5	755	+			209					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	ENST00000380668.5	37	c.627C>T	CCDS14150.1																																																																																				0.557	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		86	148	0	0	0	1	0	86	148				
SLC25A24	29957	broad.mit.edu	37	1	108679426	108679426	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108679426A>G	ENST00000565488.1	-	10	1502	c.1283T>C	c.(1282-1284)gTt>gCt	p.V428A	SLC25A24_ENST00000370041.4_Missense_Mutation_p.V409A	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	428					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		AAAGAGGCCAACCATATTCAG	0.378																																						ENST00000565488.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1282-1284)gTt>gCt		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24							89.0	91.0	90.0					1																	108679426		2203	4300	6503	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108679426A>G	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.1283T>C	1.37:g.108679426A>G	ENSP00000457733:p.Val428Ala					SLC25A24_ENST00000370041.4_Missense_Mutation_p.V409A	p.V428A	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	10	1502	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	428					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.1283T>C	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254895	0.22965	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.79554	-1.28	5.55	4.41	0.53225	Mitochondrial carrier domain (2);	0.491693	0.24176	N	0.040847	T	0.57814	0.2079	L	0.41356	1.27	0.80722	D	1	B;B	0.31274	0.238;0.317	B;B	0.33121	0.158;0.098	T	0.56025	-0.8047	10	0.15499	T	0.54	-11.082	12.0753	0.53641	0.8559:0.144:0.0:0.0	.	428;409	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	A	428;409	ENSP00000359058:V409A	ENSP00000264128:V428A	V	-	2	0	SLC25A24	108480949	0.992000	0.36948	1.000000	0.80357	0.979000	0.70002	2.370000	0.44240	1.098000	0.41479	0.533000	0.62120	GTT		0.378	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		3	91	0	0	0	1	0	3	91				
ZNF852	285346	broad.mit.edu	37	3	44541847	44541847	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44541847G>T	ENST00000436261.1	-	4	582	c.422C>A	c.(421-423)cCt>cAt	p.P141H	ZNF852_ENST00000489411.1_5'UTR			Q6ZMS4	ZN852_HUMAN	zinc finger protein 852	141						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|lung(5)	8						GGAAGACAGAGGTGGATGTTC	0.383																																						ENST00000436261.1																			0				endometrium(2)|kidney(1)|lung(5)	8						c.(421-423)cCt>cAt		zinc finger protein 852																																				SO:0001583	missense	285346				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:44541847G>T	BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917		"""Zinc fingers, C2H2-type"", ""-"""	27713	protein-coding gene	gene with protein product							Standard	NM_001287349		Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.422C>A	3.37:g.44541847G>T	ENSP00000389841:p.Pro141His					ZNF852_ENST00000489411.1_5'UTR	p.P141H			B6EU87	B6EU87_HUMAN			4	582	-			141					B4DLD7	Missense_Mutation	SNP	ENST00000436261.1	37	c.422C>A		.	.	.	.	.	.	.	.	.	.	g	2.630	-0.286643	0.05605	.	.	ENSG00000178917	ENST00000436261;ENST00000313378	T	0.05786	3.39	2.41	1.23	0.21249	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41395	-0.9511	8	0.41790	T	0.15	.	3.3054	0.06998	0.3698:0.0:0.2025:0.4277	.	107	Q6ZMS4	ZN852_HUMAN	H	141	ENSP00000389841:P141H	ENSP00000322569:P141H	P	-	2	0	ZNF852	44516851	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.107000	0.10873	0.351000	0.24027	-0.919000	0.02742	CCT		0.383	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344244.1	XM_001717402		4	61	1	0	0.00024832	1	0.0002712	4	61				
TMEM165	55858	broad.mit.edu	37	4	56290771	56290771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56290771G>T	ENST00000381334.5	+	5	1092	c.859G>T	c.(859-861)Gga>Tga	p.G287*	TMEM165_ENST00000506198.1_Nonsense_Mutation_p.G92*|TMEM165_ENST00000542052.1_Nonsense_Mutation_p.G224*|TMEM165_ENST00000514904.1_3'UTR	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	287					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GGCAGTAATTGGAGGAAGAAT	0.443																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(859-861)Gga>Tga		transmembrane protein 165							125.0	119.0	121.0					4																	56290771		2203	4300	6503	SO:0001587	stop_gained	55858					integral to membrane		g.chr4:56290771G>T	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.859G>T	4.37:g.56290771G>T	ENSP00000370736:p.Gly287*					TMEM165_ENST00000506198.1_Nonsense_Mutation_p.G92*|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Nonsense_Mutation_p.G224*	p.G287*	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		5	1092	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		287					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Nonsense_Mutation	SNP	ENST00000381334.5	37	c.859G>T	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	G	37	6.309211	0.97462	.	.	ENSG00000134851	ENST00000381334;ENST00000506198;ENST00000542052	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.0093	18.6025	0.91253	0.0:0.0:1.0:0.0	.	.	.	.	X	287;92;224	.	ENSP00000370736:G287X	G	+	1	0	TMEM165	55985528	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	GGA		0.443	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		4	44	1	0	0.00024832	1	0.0002712	4	44				
VAV2	7410	broad.mit.edu	37	9	136661642	136661642	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136661642C>T	ENST00000371850.3	-	11	972	c.941G>A	c.(940-942)tGc>tAc	p.C314Y	VAV2_ENST00000371851.1_Missense_Mutation_p.C309Y|VAV2_ENST00000406606.3_Missense_Mutation_p.C309Y	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	314	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTCAGTGTGCACTCCTGGGA	0.607																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(925-927)tGc>tAc		vav 2 guanine nucleotide exchange factor							83.0	70.0	74.0					9																	136661642		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136661642C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.941G>A	9.37:g.136661642C>T	ENSP00000360916:p.Cys314Tyr					VAV2_ENST00000406606.3_Missense_Mutation_p.C309Y|VAV2_ENST00000371850.3_Missense_Mutation_p.C314Y	p.C309Y			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	10	1251	-			314			DH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.926G>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344474	0.61073	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.69685	-0.42;-0.42;-0.42	4.24	4.24	0.50183	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87010	0.2122	10	0.56958	D	0.05	.	17.0028	0.86385	0.0:1.0:0.0:0.0	.	314;309	P52735;P52735-3	VAV2_HUMAN;.	Y	314;309;309;309	ENSP00000360916:C314Y;ENSP00000360917:C309Y;ENSP00000385362:C309Y	ENSP00000317258:C309Y	C	-	2	0	VAV2	135651463	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.275000	0.78548	2.087000	0.62958	0.462000	0.41574	TGC		0.607	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			8	11	0	0	0	1	0	8	11				
USP54	159195	broad.mit.edu	37	10	75335382	75335382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75335382C>T	ENST00000339859.4	-	2	135	c.35G>A	c.(34-36)cGt>cAt	p.R12H	USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|USP54_ENST00000408019.1_Missense_Mutation_p.R12H|USP54_ENST00000428547.1_Missense_Mutation_p.R12H|USP54_ENST00000319786.7_Missense_Mutation_p.R12H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	12					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.R12H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TACACTACCACGACCCCCTGA	0.453																																					Colon(195;880 2046 8854 25025 38456)	ENST00000394811.2																			1	Substitution - Missense(1)	p.R12H(1)	endometrium(1)	breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30								ubiquitin specific peptidase 54							108.0	105.0	106.0					10																	75335382		1888	4117	6005	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75335382C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.35G>A	10.37:g.75335382C>T	ENSP00000345216:p.Arg12His					USP54_ENST00000428547.1_Missense_Mutation_p.R12H|USP54_ENST00000408019.1_Missense_Mutation_p.R12H|USP54_ENST00000339859.4_Missense_Mutation_p.R12H|USP54_ENST00000319786.7_Missense_Mutation_p.R12H				Q70EL1	UBP54_HUMAN			0	51	-	Prostate(51;0.0112)							A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Translation_Start_Site	SNP	ENST00000339859.4	37		CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036025	0.75617	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786;ENST00000451492;ENST00000413442;ENST00000433394	T;T;T	0.25749	1.78;1.78;1.89	5.87	5.87	0.94306	.	0.288824	0.27482	U	0.019168	T	0.41488	0.1161	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	P;P;D	0.68621	0.7;0.891;0.959	T	0.07829	-1.0752	10	0.44086	T	0.13	-8.0273	20.2192	0.98319	0.0:1.0:0.0:0.0	.	12;12;12	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	H	12	ENSP00000345216:R12H;ENSP00000386080:R12H;ENSP00000408714:R12H	ENSP00000326547:R12H	R	-	2	0	USP54	75005388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.778000	0.68940	2.780000	0.95670	0.655000	0.94253	CGT		0.453	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		6	77	0	0	0	1	0	6	77				
ENO3	2027	broad.mit.edu	37	17	4857058	4857058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4857058C>T	ENST00000323997.6	+	6	494	c.362C>T	c.(361-363)gCg>gTg	p.A121V	ENO3_ENST00000518175.1_Missense_Mutation_p.A121V|ENO3_ENST00000519584.1_Missense_Mutation_p.A78V	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	121					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GTGTGTAAGGCGGGAGCAGCT	0.612																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(361-363)gCg>gTg		enolase 3 (beta, muscle)							114.0	103.0	107.0					17																	4857058		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4857058C>T	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.362C>T	17.37:g.4857058C>T	ENSP00000324105:p.Ala121Val					ENO3_ENST00000518175.1_Missense_Mutation_p.A121V|ENO3_ENST00000519584.1_Missense_Mutation_p.A78V	p.A121V	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			6	494	+			121					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.362C>T	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338518	0.95783	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	T;T;T;T;T;T	0.59083	0.67;0.67;0.67;0.67;0.29;0.67	5.55	4.58	0.56647	.	0.055180	0.64402	N	0.000001	T	0.69913	0.3164	M	0.91510	3.215	0.80722	D	1	P;P;P	0.52170	0.912;0.895;0.951	P;B;B	0.47118	0.538;0.279;0.387	T	0.78127	-0.2325	10	0.87932	D	0	-16.9264	12.2562	0.54625	0.0:0.9175:0.0:0.0825	.	78;28;121	P13929-3;D3DTL4;D3DTL2	.;.;.	V	121;121;121;121;78;121	ENSP00000428502:A121V;ENSP00000430055:A121V;ENSP00000324105:A121V;ENSP00000428811:A121V;ENSP00000430636:A78V;ENSP00000431087:A121V	ENSP00000324105:A121V	A	+	2	0	ENO3	4797804	1.000000	0.71417	0.935000	0.37517	0.983000	0.72400	7.776000	0.85560	1.481000	0.48307	0.655000	0.94253	GCG		0.612	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			4	93	0	0	0	1	0	4	93				
RPL29	6159	broad.mit.edu	37	3	52028026	52028026	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52028026C>T	ENST00000466397.1	-	4	359	c.219G>A	c.(217-219)aaG>aaA	p.K73K	RPL29_ENST00000479017.1_Silent_p.K73K|RPL29_ENST00000475248.1_Silent_p.K73K|RPL29_ENST00000495383.1_Silent_p.K73K|RPL29_ENST00000294189.6_Silent_p.K73K			P47914	RL29_HUMAN	ribosomal protein L29	73					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTACGAGGGCCTTGATAGCCT	0.547																																						ENST00000466397.1																			0				lung(1)	1						c.(217-219)aaG>aaA		ribosomal protein L29							39.0	44.0	42.0					3																	52028026		2185	4248	6433	SO:0001819	synonymous_variant	6159				embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome	g.chr3:52028026C>T	U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"""L ribosomal proteins"""	10331	protein-coding gene	gene with protein product	"""60S ribosomal protein L29"", ""heparin/heparan sulfate-interacting protein"", ""HP/HS-interacting protein"", ""heparin/heparan sulfate-binding protein"", ""cell surface heparin-binding protein HIP"""	601832	"""ribosomal protein L29 pseudogene 10"""	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.219G>A	3.37:g.52028026C>T						RPL29_ENST00000294189.6_Silent_p.K73K|RPL29_ENST00000495383.1_Silent_p.K73K|RPL29_ENST00000475248.1_Silent_p.K73K|RPL29_ENST00000479017.1_Silent_p.K73K	p.K73K			P47914	RL29_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	359	-			73					A8K0H3|B2R4M8|Q6IPY3	Silent	SNP	ENST00000466397.1	37	c.219G>A	CCDS2845.1																																																																																				0.547	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349680.2	NM_000992		29	35	0	0	0	1	0	29	35				
SMARCAD1	56916	broad.mit.edu	37	4	95147396	95147396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95147396G>A	ENST00000354268.4	+	3	390	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.C106Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	106					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCCCCAAATTGCTCCAATACA	0.303																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(316-318)tGc>tAc		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							104.0	109.0	108.0					4																	95147396		2203	4296	6499	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95147396G>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.317G>A	4.37:g.95147396G>A	ENSP00000346217:p.Cys106Tyr					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.C106Y	p.C106Y			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	3	390	+			106					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.317G>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487665	0.64074	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.21734	1.99;1.99;1.99	5.76	5.76	0.90799	.	0.000000	0.40469	N	0.001096	T	0.24314	0.0589	N	0.24115	0.695	0.80722	D	1	D;D	0.60160	0.978;0.987	P;P	0.52217	0.496;0.693	T	0.00834	-1.1547	10	0.30854	T	0.27	-11.3262	16.8918	0.86089	0.0:0.0:1.0:0.0	.	106;106	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Y	106	ENSP00000351947:C106Y;ENSP00000415576:C106Y;ENSP00000346217:C106Y	ENSP00000346217:C106Y	C	+	2	0	SMARCAD1	95366419	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.792000	0.55476	2.724000	0.93272	0.585000	0.79938	TGC		0.303	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		42	81	0	0	0	1	0	42	81				
TNR	7143	broad.mit.edu	37	1	175324739	175324739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175324739C>T	ENST00000367674.2	-	17	3857	c.3149G>A	c.(3148-3150)aGt>aAt	p.S1050N	TNR_ENST00000263525.2_Missense_Mutation_p.S1050N			Q92752	TENR_HUMAN	tenascin R	1050	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S1050I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTGACTTCACTGGCTGTCAG	0.552																																						ENST00000367674.1																			1	Substitution - Missense(1)	p.S1050I(1)	lung(1)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3148-3150)aGt>aAt		tenascin R							80.0	84.0	83.0					1																	175324739		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175324739C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3149G>A	1.37:g.175324739C>T	ENSP00000356646:p.Ser1050Asn					TNR_ENST00000263525.2_Missense_Mutation_p.S1050N	p.S1050N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			17	3857	-	Renal(580;0.146)		1050			Fibronectin type-III 9.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3149G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043400	0.75732	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.59906	0.23;0.23	4.93	3.95	0.45737	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.047879	0.85682	D	0.000000	T	0.67646	0.2915	M	0.70108	2.13	0.45150	D	0.998169	P	0.43287	0.802	P	0.52031	0.688	T	0.71471	-0.4583	10	0.56958	D	0.05	.	14.0008	0.64433	0.0:0.6696:0.3304:0.0	.	1050	Q92752	TENR_HUMAN	N	1050;1050;960	ENSP00000356646:S1050N;ENSP00000263525:S1050N	ENSP00000263525:S1050N	S	-	2	0	TNR	173591362	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	1.757000	0.38400	2.422000	0.82143	0.561000	0.74099	AGT		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		21	50	0	0	0	1	0	21	50				
GIMAP8	155038	broad.mit.edu	37	7	150174764	150174764	+	Missense_Mutation	SNP	G	G	A	rs144516226	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174764G>A	ENST00000307271.3	+	5	2468	c.1894G>A	c.(1894-1896)Ggg>Agg	p.G632R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	632	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGGTGGTCCGGGTATCCCCA	0.403																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1894-1896)Ggg>Agg		GTPase, IMAP family member 8		G	ARG/GLY	2,4402	4.2+/-10.8	0,2,2200	66.0	76.0	72.0		1894	2.0	0.0	7	dbSNP_134	72	0,8600		0,0,4300	no	missense	GIMAP8	NM_175571.2	125	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	632/666	150174764	2,13002	2202	4300	6502	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174764G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1894G>A	7.37:g.150174764G>A	ENSP00000305107:p.Gly632Arg						p.G632R	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2468	+			632						Missense_Mutation	SNP	ENST00000307271.3	37	c.1894G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615157	0.28712	4.54E-4	0.0	ENSG00000171115	ENST00000307271	T	0.10005	2.92	3.93	1.98	0.26296	AIG1 (1);	1.305830	0.05439	N	0.547286	T	0.14570	0.0352	L	0.41236	1.265	0.09310	N	1	D	0.64830	0.994	P	0.52598	0.703	T	0.22765	-1.0207	10	0.25106	T	0.35	.	4.7341	0.12979	0.1172:0.0:0.6717:0.2111	.	632	Q8ND71	GIMA8_HUMAN	R	632	ENSP00000305107:G632R	ENSP00000305107:G632R	G	+	1	0	GIMAP8	149805697	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.234000	0.09028	0.872000	0.35775	0.655000	0.94253	GGG		0.403	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		34	108	0	0	0	1	0	34	108				
CCDC88C	440193	broad.mit.edu	37	14	91780360	91780360	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91780360C>T	ENST00000389857.6	-	15	1886	c.1800G>A	c.(1798-1800)acG>acA	p.T600T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	600					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CATTGGCCTCCGTCACCGTCT	0.622																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1798-1800)acG>acA		coiled-coil domain containing 88C							80.0	79.0	80.0					14																	91780360		2118	4248	6366	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91780360C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1800G>A	14.37:g.91780360C>T							p.T600T	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	1886	-		all_cancers(154;0.0468)	600					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.1800G>A	CCDS45151.1																																																																																				0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		11	24	0	0	0	1	0	11	24				
MYSM1	114803	broad.mit.edu	37	1	59147880	59147880	+	Missense_Mutation	SNP	C	C	T	rs374418454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59147880C>T	ENST00000472487.1	-	8	875	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	279					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTTGAAGACAGCCCCTGGA	0.358																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(835-837)tGt>tAt		Myb-like, SWIRM and MPN domains 1		C	TYR/CYS	0,3662		0,0,1831	144.0	137.0	139.0		836	-2.4	0.0	1		139	1,8157		0,1,4078	no	missense	MYSM1	NM_001085487.2	194	0,1,5909	TT,TC,CC		0.0123,0.0,0.0085	benign	279/829	59147880	1,11819	1831	4079	5910	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147880C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.836G>A	1.37:g.59147880C>T	ENSP00000418734:p.Cys279Tyr					MYSM1_ENST00000493821.1_5'UTR	p.C279Y	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			8	875	-	all_cancers(7;9.36e-06)		279					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.836G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.010179	0.00043	0.0	1.23E-4	ENSG00000162601	ENST00000472487	T	0.22134	1.97	4.78	-2.41	0.06562	.	1.245650	0.05399	N	0.540458	T	0.09598	0.0236	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34551	-0.9824	10	0.54805	T	0.06	3.826	5.9722	0.19359	0.0:0.3435:0.1321:0.5244	.	279	Q5VVJ2	MYSM1_HUMAN	Y	279	ENSP00000418734:C279Y	ENSP00000418734:C279Y	C	-	2	0	MYSM1	58920468	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.023000	0.13533	-0.515000	0.06479	-0.482000	0.04802	TGT		0.358	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		14	166	0	0	0	1	0	14	166				
USP49	25862	broad.mit.edu	37	6	41773747	41773747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773747G>A	ENST00000394253.3	-	3	1304	c.975C>T	c.(973-975)tgC>tgT	p.C325C	USP49_ENST00000373010.1_Silent_p.C325C|USP49_ENST00000297229.2_Silent_p.C325C|USP49_ENST00000373009.3_Silent_p.C325C|USP49_ENST00000373006.1_Silent_p.C325C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	325	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCCCGCTCGCATGCCTCGG	0.582																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(973-975)tgC>tgT		ubiquitin specific peptidase 49							33.0	38.0	37.0					6																	41773747		2203	4300	6503	SO:0001819	synonymous_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773747G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.975C>T	6.37:g.41773747G>A						USP49_ENST00000373006.1_Silent_p.C325C|USP49_ENST00000297229.2_Silent_p.C325C|USP49_ENST00000373009.3_Silent_p.C325C|USP49_ENST00000373010.1_Silent_p.C325C	p.C325C			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1304	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		325					Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37	c.975C>T																																																																																					0.582	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		10	19	0	0	0	1	0	10	19				
SLC6A16	28968	broad.mit.edu	37	19	49793840	49793840	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49793840C>A	ENST00000335875.4	-	11	2183				SLC6A16_ENST00000454748.3_Nonsense_Mutation_p.E655*	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16						neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAAAGGGGTTCTGGGTCCTGG	0.512																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1963-1965)Gaa>Taa		solute carrier family 6, member 16							28.0	26.0	27.0					19																	49793840		1870	4103	5973	SO:0001627	intron_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49793840C>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1941+21G>T	19.37:g.49793840C>A						SLC6A16_ENST00000335875.4_Intron	p.E655*			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	11	2164	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	655					Q8IYV4|Q9Y5I9	Nonsense_Mutation	SNP	ENST00000335875.4	37	c.1963G>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590325	0.86851	.	.	ENSG00000063127	ENST00000454748	.	.	.	3.87	-0.757	0.11054	.	.	.	.	.	.	.	.	.	.	.	0.24654	N	0.993508	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.3667	0.21459	0.0:0.5314:0.0:0.4686	.	.	.	.	X	655	.	ENSP00000404022:E655X	E	-	1	0	SLC6A16	54485652	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.197000	0.09518	-0.023000	0.13963	-0.208000	0.12717	GAA		0.512	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		5	29	1	0	0.014758	1	0.0152625	5	29				
SFTPA1	653509	broad.mit.edu	37	10	81373771	81373771	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81373771G>T	ENST00000398636.3	+	6	787	c.649G>T	c.(649-651)Gca>Tca	p.A217S	SFTPA1_ENST00000372313.5_Missense_Mutation_p.A158S|SFTPA1_ENST00000428376.2_Missense_Mutation_p.A217S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.A232S|SFTPA1_ENST00000372308.3_Missense_Mutation_p.A217S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	217	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGGGAGCCCGCAGGTCGGGG	0.562																																						ENST00000398636.3																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(649-651)Gca>Tca		surfactant protein A1							188.0	185.0	186.0					10																	81373771		2203	4296	6499	SO:0001583	missense	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373771G>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.649G>T	10.37:g.81373771G>T	ENSP00000381633:p.Ala217Ser					SFTPA1_ENST00000372313.5_Missense_Mutation_p.A158S|SFTPA1_ENST00000428376.2_Missense_Mutation_p.A217S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.A232S|SFTPA1_ENST00000372308.3_Missense_Mutation_p.A217S	p.A217S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	787	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		217			C-type lectin.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.649G>T	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.556780	0.00910	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	2.89	0.47	0.16747	C-type lectin fold (2);C-type lectin-like (2);C-type lectin (6);	0.587988	0.17132	N	0.185791	T	0.25195	0.0612	N	0.02721	-0.515	0.19775	N	0.999956	B;B;P	0.44627	0.039;0.03;0.839	B;B;P	0.45138	0.041;0.024;0.471	T	0.12293	-1.0553	10	0.26408	T	0.33	0.0128	4.0029	0.09588	0.6548:0.213:0.1322:0.0	.	217;232;217	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	S	217;217;217;158;232;217	ENSP00000361382:A217S;ENSP00000381633:A217S;ENSP00000411102:A217S;ENSP00000361387:A158S;ENSP00000397082:A232S	ENSP00000361382:A217S	A	+	1	0	SFTPA1	81043777	0.000000	0.05858	0.367000	0.25926	0.035000	0.12851	0.015000	0.13355	0.079000	0.16929	0.297000	0.19635	GCA		0.562	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		15	143	1	0	2.23348e-06	1	2.57349e-06	15	143				
SLFN5	162394	broad.mit.edu	37	17	33585854	33585854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33585854G>A	ENST00000299977.4	+	2	293	c.145G>A	c.(145-147)Gct>Act	p.A49T	SLFN5_ENST00000592325.1_Missense_Mutation_p.A49T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A49T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	49					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGCAGTATGTGCTCTGCTGAA	0.488																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(145-147)Gct>Act		schlafen family member 5							100.0	99.0	100.0					17																	33585854		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33585854G>A	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.145G>A	17.37:g.33585854G>A	ENSP00000299977:p.Ala49Thr					SLFN5_ENST00000592325.1_Missense_Mutation_p.A49T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A49T	p.A49T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	293	+		Ovarian(249;0.17)	49					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.145G>A	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822810	0.71028	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.13196	3.93;2.61	3.7	2.62	0.31277	.	0.000000	0.33854	N	0.004482	T	0.25568	0.0622	L	0.55834	1.745	0.32606	N	0.52522	D;D;D	0.76494	0.999;0.994;0.994	P;P;D	0.69654	0.867;0.729;0.965	T	0.11792	-1.0573	10	0.51188	T	0.08	.	7.7858	0.29091	0.0:0.0:0.7513:0.2487	.	49;49;49	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	T	49	ENSP00000299977:A49T;ENSP00000440537:A49T	ENSP00000299977:A49T	A	+	1	0	SLFN5	30609967	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	3.178000	0.50879	2.070000	0.61991	0.655000	0.94253	GCT		0.488	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		33	35	0	0	0	1	0	33	35				
ABCA6	23460	broad.mit.edu	37	17	67079048	67079048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67079048G>A	ENST00000284425.2	-	36	4756	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1528					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAAAGCTTCAGAATCTCAGTG	0.448																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4582-4584)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 6							218.0	220.0	219.0					17																	67079048		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079048G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4582C>T	17.37:g.67079048G>A						ABCA6_ENST00000446604.2_5'UTR	p.L1528L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			36	4756	-	Breast(10;5.65e-12)		1528					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4582C>T	CCDS11683.1																																																																																				0.448	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		112	166	0	0	0	1	0	112	166				
AZI2	64343	broad.mit.edu	37	3	28365631	28365631	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28365631C>A	ENST00000479665.1	-	8	1612	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S	CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	361					dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.A361P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCCCAAATGCTGTCTCACTT	0.378																																						ENST00000479665.1																			1	Substitution - Missense(1)	p.A361P(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1081-1083)Gca>Tca		5-azacytidine induced 2							160.0	161.0	161.0					3																	28365631		2203	4299	6502	SO:0001583	missense	64343					mitochondrion|plasma membrane		g.chr3:28365631C>A	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.1081G>T	3.37:g.28365631C>A	ENSP00000419371:p.Ala361Ser					CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	p.A361S	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN			8	1612	-			361					A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	c.1081G>T	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819500	0.50633	.	.	ENSG00000163512	ENST00000479665	.	.	.	6.17	2.25	0.28309	.	0.290043	0.43919	D	0.000517	T	0.42223	0.1193	L	0.36672	1.1	0.80722	D	1	B	0.17038	0.02	B	0.14023	0.01	T	0.25606	-1.0127	9	0.54805	T	0.06	-10.5773	5.7568	0.18178	0.0:0.487:0.1308:0.3821	.	361	Q9H6S1	AZI2_HUMAN	S	361	.	ENSP00000419371:A361S	A	-	1	0	AZI2	28340635	0.687000	0.27671	0.972000	0.41901	0.986000	0.74619	-0.188000	0.09642	0.415000	0.25817	0.655000	0.94253	GCA		0.378	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		6	167	1	0	2.0095e-06	1	2.31757e-06	6	167				
WRN	7486	broad.mit.edu	37	8	30938402	30938402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30938402G>T	ENST00000298139.5	+	9	1108	c.859G>T	c.(859-861)Gat>Tat	p.D287Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	287					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTACTAAAGGATATTTCAGA	0.299			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(859-861)Gat>Tat	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							27.0	30.0	29.0					8																	30938402		2190	4295	6485	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30938402G>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.859G>T	8.37:g.30938402G>T	ENSP00000298139:p.Asp287Tyr						p.D287Y	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	9	1108	+		Breast(100;0.195)	287					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.859G>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428310	0.43122	.	.	ENSG00000165392	ENST00000298139	T	0.49720	0.77	5.82	-0.956	0.10353	.	0.972388	0.08518	N	0.933963	T	0.56217	0.1970	M	0.63843	1.955	0.09310	N	1	D	0.62365	0.991	P	0.58873	0.847	T	0.49000	-0.8984	10	0.72032	D	0.01	-1.9173	6.0498	0.19779	0.3897:0.0:0.489:0.1213	.	287	Q14191	WRN_HUMAN	Y	287	ENSP00000298139:D287Y	ENSP00000298139:D287Y	D	+	1	0	WRN	31057944	0.713000	0.27926	0.366000	0.25914	0.533000	0.34776	0.540000	0.23191	-0.066000	0.12998	0.650000	0.86243	GAT		0.299	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	22	1	0	0.000157383	1	0.00017284	8	22				
BAI3	577	broad.mit.edu	37	6	70071116	70071116	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70071116T>C	ENST00000370598.1	+	29	4772	c.3951T>C	c.(3949-3951)aaT>aaC	p.N1317N	BAI3_ENST00000546190.1_Silent_p.N281N|BAI3_ENST00000238918.8_Silent_p.N523N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1317					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTTCTGTAAATAACCAGCCTT	0.393																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3949-3951)aaT>aaC		brain-specific angiogenesis inhibitor 3							60.0	56.0	58.0					6																	70071116		2203	4299	6502	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071116T>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3951T>C	6.37:g.70071116T>C						BAI3_ENST00000546190.1_Silent_p.N281N|BAI3_ENST00000238918.8_Silent_p.N523N	p.N1317N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4772	+		all_lung(197;0.212)	1317					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3951T>C	CCDS4968.1																																																																																				0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	55	0	0	0	1	0	5	55				
MUC16	94025	broad.mit.edu	37	19	9016986	9016986	+	Missense_Mutation	SNP	C	C	A	rs565425582		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9016986C>A	ENST00000397910.4	-	27	38212	c.38009G>T	c.(38008-38010)aGc>aTc	p.S12670I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12672					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S12670N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACTGCTGCTGGTGGGCAC	0.532																																						ENST00000397910.4																			1	Substitution - Missense(1)	p.S12670N(1)	endometrium(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38008-38010)aGc>aTc		mucin 16, cell surface associated							107.0	99.0	101.0					19																	9016986		1969	4144	6113	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9016986C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38009G>T	19.37:g.9016986C>A	ENSP00000381008:p.Ser12670Ile						p.S12670I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			27	38212	-			12672					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38009G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.181	-1.062574	0.01950	.	.	ENSG00000181143	ENST00000397910	T	0.02121	4.44	1.48	-1.23	0.09465	.	.	.	.	.	T	0.01254	0.0041	N	0.11255	0.115	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.48410	-0.9038	8	0.87932	D	0	.	0.6174	0.00772	0.1779:0.2378:0.3437:0.2407	.	12670	B5ME49	.	I	12670	ENSP00000381008:S12670I	ENSP00000381008:S12670I	S	-	2	0	MUC16	8877986	0.005000	0.15991	0.000000	0.03702	0.024000	0.10985	-0.381000	0.07417	-0.748000	0.04753	-0.371000	0.07208	AGC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	38	1	0	0.00307968	1	0.00325696	8	38				
POTEE	445582	broad.mit.edu	37	2	132021757	132021757	+	Missense_Mutation	SNP	G	G	A	rs535106265	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132021757G>A	ENST00000356920.5	+	15	2823	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GAAATCGTGCGTGACATCAAA	0.602													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		36715	0.0		0.0	False		,,,				2504	0.0					ENST00000356920.5																			0											c.(2728-2730)cGt>cAt		POTE ankyrin domain family, member E							53.0	56.0	55.0					2																	132021757		1965	3925	5890	SO:0001583	missense	445582						ATP binding	g.chr2:132021757G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2729G>A	2.37:g.132021757G>A	ENSP00000439189:p.Arg910His					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.R910H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2823	+			910			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2729G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.431912	0.62844	.	.	ENSG00000188219	ENST00000356920	T	0.09163	3.01	.	.	.	.	.	.	.	.	T	0.37732	0.1014	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.16364	-1.0405	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	910	Q6S8J3	POTEE_HUMAN	H	910	ENSP00000439189:R910H	ENSP00000439189:R910H	R	+	2	0	AC131180.1	131738227	1.000000	0.71417	0.200000	0.23457	0.202000	0.24057	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGT		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		12	145	0	0	0	1	0	12	145				
ZAK	51776	broad.mit.edu	37	2	174131150	174131150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174131150C>A	ENST00000375213.3	+	20	2153	c.2075C>A	c.(2074-2076)cCt>cAt	p.P692H	MLTK_ENST00000409176.2_Missense_Mutation_p.P692H|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		692					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										AATTCTTCTCCTAGAGGAAGA	0.453																																						ENST00000375213.3																			0											c.(2074-2076)cCt>cAt									89.0	91.0	90.0					2																	174131150		1900	4116	6016	SO:0001583	missense	0							g.chr2:174131150C>A																												ENST00000375213.3:c.2075C>A	2.37:g.174131150C>A	ENSP00000364361:p.Pro692His					MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.P692H	p.P692H	NM_016653.2	NP_057737.2					20	2153	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2075C>A	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757483	0.49468	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74842	-0.88;-0.88	6.08	5.21	0.72293	.	0.370184	0.30593	N	0.009296	T	0.60945	0.2308	L	0.29908	0.895	0.54753	D	0.999989	P	0.39624	0.681	B	0.33750	0.169	T	0.65573	-0.6135	10	0.66056	D	0.02	.	11.68	0.51453	0.0:0.8647:0.0:0.1353	.	692	Q9NYL2	MLTK_HUMAN	H	692	ENSP00000387259:P692H;ENSP00000364361:P692H	ENSP00000364361:P692H	P	+	2	0	AC013461.1	173839396	0.004000	0.15560	0.833000	0.33012	0.964000	0.63967	0.963000	0.29293	1.590000	0.49995	0.591000	0.81541	CCT		0.453	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			9	72	1	0	1.58986e-06	1	1.84011e-06	9	72				
TRANK1	9881	broad.mit.edu	37	3	36898233	36898233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36898233G>T	ENST00000429976.2	-	12	3095	c.2848C>A	c.(2848-2850)Cgc>Agc	p.R950S	TRANK1_ENST00000428977.2_Missense_Mutation_p.R400S|TRANK1_ENST00000301807.6_Missense_Mutation_p.R400S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	950							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.R400S(2)|p.R950S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATAGCAGCGAGGTATACGC	0.498																																						ENST00000301807.6																			3	Substitution - Missense(3)	p.R400S(2)|p.R950S(1)	lung(3)	NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1198-1200)Cgc>Agc		tetratricopeptide repeat and ankyrin repeat containing 1							197.0	193.0	194.0					3																	36898233		2061	4213	6274	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898233G>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2848C>A	3.37:g.36898233G>T	ENSP00000416168:p.Arg950Ser					TRANK1_ENST00000429976.2_Missense_Mutation_p.R950S|TRANK1_ENST00000428977.2_Missense_Mutation_p.R400S	p.R400S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	3095	-			950					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1198C>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182752	0.78677	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35048	1.33;1.75;1.33	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000005	T	0.50854	0.1640	L	0.32530	0.975	0.52501	D	0.999952	D	0.89917	1.0	D	0.67548	0.952	T	0.49163	-0.8968	10	0.59425	D	0.04	.	19.7548	0.96285	0.0:0.0:1.0:0.0	.	950	O15050	TRNK1_HUMAN	S	400;950;400	ENSP00000416826:R400S;ENSP00000416168:R950S;ENSP00000301807:R400S	ENSP00000301807:R400S	R	-	1	0	TRANK1	36873237	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.499000	0.81566	2.759000	0.94783	0.549000	0.68633	CGC		0.498	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		83	102	1	0	4.05715e-38	1	5.46742e-38	83	102				
TRPC4	7223	broad.mit.edu	37	13	38211113	38211113	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211113T>C	ENST00000379705.3	-	11	3718	c.2861A>G	c.(2860-2862)gAc>gGc	p.D954G	TRPC4_ENST00000379679.1_Missense_Mutation_p.D781G|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.D813G|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805G|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870G|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781G|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959G|TRPC4_ENST00000447043.1_Missense_Mutation_p.D813G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATACTAGAGTCCTCTTCTTT	0.438																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2860-2862)gAc>gGc		transient receptor potential cation channel, subfamily C, member 4							164.0	145.0	151.0					13																	38211113		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211113T>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2861A>G	13.37:g.38211113T>C	ENSP00000369027:p.Asp954Gly					TRPC4_ENST00000355779.2_Missense_Mutation_p.D813G|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959G|TRPC4_ENST00000447043.1_Missense_Mutation_p.D813G|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781G|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805G|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781G|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870G	p.D954G			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3718	-			954			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2861A>G	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	9.757	1.169131	0.21621	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.74526	-0.35;-0.35;-0.16;-0.16;-0.07;-0.51;-0.85;-0.07	5.61	4.36	0.52297	.	0.964230	0.08640	N	0.915722	T	0.77572	0.4150	N	0.19112	0.55	0.80722	D	1	B;B;P;B;B;B	0.52577	0.008;0.062;0.954;0.03;0.177;0.02	B;B;D;B;B;B	0.67900	0.015;0.046;0.954;0.037;0.154;0.016	T	0.72921	-0.4145	10	0.66056	D	0.02	-24.3249	12.0458	0.53479	0.0:0.0:0.1426:0.8574	.	813;805;959;781;870;954	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	G	954;959;781;781;813;870;805;813	ENSP00000369027:D954G;ENSP00000369003:D959G;ENSP00000342580:D781G;ENSP00000369001:D781G;ENSP00000348025:D813G;ENSP00000351264:D870G;ENSP00000368995:D805G;ENSP00000414316:D813G	ENSP00000342580:D781G	D	-	2	0	TRPC4	37109113	0.990000	0.36364	0.972000	0.41901	0.147000	0.21601	1.988000	0.40697	2.266000	0.75297	0.533000	0.62120	GAC		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		8	62	0	0	0	1	0	8	62				
UBA2	10054	broad.mit.edu	37	19	34936026	34936026	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34936026G>T	ENST00000246548.4	+	8	841	c.771G>T	c.(769-771)aaG>aaT	p.K257N	UBA2_ENST00000439527.2_Splice_Site_p.K161N	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	257					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTTTACCAAGGTTAGATTTA	0.308																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.e8+1		ubiquitin-like modifier activating enzyme 2							72.0	73.0	73.0					19																	34936026		2203	4300	6503	SO:0001630	splice_region_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34936026G>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.771+1G>T	19.37:g.34936026G>T						UBA2_ENST00000246548.4_Splice_Site_p.K257_splice	p.K161_splice			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		8	981	+	Esophageal squamous(110;0.162)		257					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	SNP	ENST00000246548.4	37	c.483_splice	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998330	0.74818	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.63417	-0.04;1.1	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	D	0.82398	0.5028	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84679	0.0716	10	0.66056	D	0.02	-18.2488	18.524	0.90965	0.0:0.0:1.0:0.0	.	257	Q9UBT2	SAE2_HUMAN	N	130;257;161	ENSP00000246548:K257N;ENSP00000437484:K161N	ENSP00000246548:K257N	K	+	3	2	UBA2	39627866	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.713000	0.91408	2.736000	0.93811	0.591000	0.81541	AAG		0.308	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	Missense_Mutation	28	46	1	0	4.22769e-11	1	5.25533e-11	28	46				
YWHAEP7	284100	broad.mit.edu	37	17	36243580	36243580	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36243580C>T	ENST00000590732.1	-	0	108					NR_024178.1																						TCTGCACTTACCCCCATTATC	0.313																																						ENST00000590732.1																			0																																																			0							g.chr17:36243580C>T																													17.37:g.36243580C>T								NR_024178.1						0	108	-									RNA	SNP	ENST00000590732.1	37																																																																																						0.313	RP11-115K3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000451947.1			9	9	0	0	0	1	0	9	9				
TEDDM1	127670	broad.mit.edu	37	1	182369445	182369445	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182369445A>G	ENST00000367565.1	-	1	306	c.176T>C	c.(175-177)gTg>gCg	p.V59A		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	59						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						CCTTGATGGCACTTGCTTCCT	0.473																																						ENST00000367565.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						c.(175-177)gTg>gCg		transmembrane epididymal protein 1							172.0	141.0	152.0					1																	182369445		2203	4300	6503	SO:0001583	missense	127670					integral to membrane		g.chr1:182369445A>G	AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"""putative membrane protein HE9"", ""transmembrane protein 45C"", ""epididymal protein 9"""						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.176T>C	1.37:g.182369445A>G	ENSP00000356536:p.Val59Ala						p.V59A	NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN			1	306	-			59					Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	c.176T>C	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	A	7.146	0.582812	0.13749	.	.	ENSG00000203730	ENST00000367565	T	0.41400	1.0	5.05	1.07	0.20283	.	2.961790	0.00934	N	0.002746	T	0.28167	0.0695	N	0.14661	0.345	0.09310	N	1	B	0.15719	0.014	B	0.15484	0.013	T	0.16897	-1.0387	10	0.16420	T	0.52	-1.557	9.2758	0.37698	0.5682:0.0:0.0:0.4318	.	59	Q5T9Z0	TEDM1_HUMAN	A	59	ENSP00000356536:V59A	ENSP00000356536:V59A	V	-	2	0	TEDDM1	180636068	0.000000	0.05858	0.098000	0.21074	0.063000	0.16089	0.189000	0.17037	0.346000	0.23899	0.533000	0.62120	GTG		0.473	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		40	60	0	0	0	1	0	40	60				
GARS	2617	broad.mit.edu	37	7	30668232	30668232	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30668232T>C	ENST00000389266.3	+	14	1997	c.1756T>C	c.(1756-1758)Tat>Cat	p.Y586H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	586					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAGGATCATGTATACGGTATT	0.368																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1756-1758)Tat>Cat		glycyl-tRNA synthetase	Glycine(DB00145)						211.0	190.0	197.0					7																	30668232		1909	4113	6022	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30668232T>C	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1756T>C	7.37:g.30668232T>C	ENSP00000373918:p.Tyr586His						p.Y586H	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			14	1997	+			586					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.1756T>C	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.998249	0.93227	.	.	ENSG00000106105	ENST00000389266	D	0.91124	-2.79	5.59	5.59	0.84812	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.92616	0.7654	M	0.88842	2.985	0.80722	D	1	P	0.47302	0.893	B	0.44085	0.44	D	0.93736	0.7046	10	0.72032	D	0.01	-17.6159	14.0796	0.64912	0.0:0.0:0.0:1.0	.	586	P41250	SYG_HUMAN	H	586	ENSP00000373918:Y586H	ENSP00000373918:Y586H	Y	+	1	0	GARS	30634757	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.008000	0.88588	2.275000	0.75901	0.529000	0.55759	TAT		0.368	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		6	145	0	0	0	1	0	6	145				
PPM1J	333926	broad.mit.edu	37	1	113254974	113254974	+	Missense_Mutation	SNP	C	C	T	rs368783995		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113254974C>T	ENST00000309276.6	-	4	1010	c.835G>A	c.(835-837)Gat>Aat	p.D279N	RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000359994.4_Missense_Mutation_p.D73N|PPM1J_ENST00000464951.1_Missense_Mutation_p.D73N|RP11-426L16.10_ENST00000471038.2_5'Flank	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	279	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTGCTATCGCCTGCATTG	0.607																																						ENST00000464951.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(217-219)Gat>Aat		protein phosphatase, Mg2+/Mn2+ dependent, 1J		C	ASN/ASP	0,4404		0,0,2202	58.0	46.0	50.0		835	5.8	1.0	1		50	1,8597		0,1,4298	no	missense	PPM1J	NM_005167.5	23	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	279/506	113254974	1,13001	2202	4299	6501	SO:0001583	missense	333926							g.chr1:113254974C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.835G>A	1.37:g.113254974C>T	ENSP00000308926:p.Asp279Asn					PPM1J_ENST00000359994.4_Missense_Mutation_p.D73N|PPM1J_ENST00000309276.6_Missense_Mutation_p.D279N	p.D73N			Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1625	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	279					B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.217G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	33	5.226436	0.95173	0.0	1.16E-4	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.41758	0.99;0.99	5.81	5.81	0.92471	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82335	-0.0508	10	0.87932	D	0	-28.7369	19.6737	0.95921	0.0:1.0:0.0:0.0	.	279;73	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	N	279;73	ENSP00000308926:D279N;ENSP00000353088:D73N	ENSP00000308926:D279N	D	-	1	0	PPM1J	113056497	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.440000	0.80464	2.757000	0.94681	0.462000	0.41574	GAT		0.607	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		5	9	0	0	0	1	0	5	9				
NCOR2	9612	broad.mit.edu	37	12	124812048	124812048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124812048C>T	ENST00000405201.1	-	45	7090	c.7090G>A	c.(7090-7092)Gct>Act	p.A2364T	NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2354T|NCOR2_ENST00000356219.3_Missense_Mutation_p.A2371T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1925T|NCOR2_ENST00000397355.1_Intron			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2375					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGTTAAAAGCATTGGCGCTG	0.577																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(7111-7113)Gct>Act		nuclear receptor corepressor 2							68.0	77.0	74.0					12																	124812048		2098	4217	6315	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124812048C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7090G>A	12.37:g.124812048C>T	ENSP00000384018:p.Ala2364Thr					NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2354T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2364T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1925T	p.A2371T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	46	7266	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2375					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.7111G>A	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.98|16.98	3.272044|3.272044	0.59649|0.59649	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000413172	T;T;T;T|.	0.19532|.	2.14;2.14;2.14;2.4|.	5.18|5.18	4.29|4.29	0.51040|0.51040	.|.	0.141164|.	0.46442|.	N|.	0.000285|.	T|T	0.58694|0.58694	0.2140|0.2140	L|L	0.44542|0.44542	1.39|1.39	0.46241|0.46241	D|D	0.998942|0.998942	P|.	0.45672|.	0.864|.	P|.	0.55785|.	0.784|.	T|T	0.55062|0.55062	-0.8199|-0.8199	10|5	0.36615|.	T|.	0.2|.	-9.5671|-9.5671	13.2765|13.2765	0.60189|0.60189	0.0:0.9234:0.0:0.0766|0.0:0.9234:0.0:0.0766	.|.	2364|.	C9JFD3|.	.|.	T|I	2364;2371;2363;1925;456;2354|28	ENSP00000384018:A2364T;ENSP00000348551:A2371T;ENSP00000385618:A1925T;ENSP00000400281:A2354T|.	ENSP00000348551:A2371T|.	A|M	-|-	1|3	0|0	NCOR2|NCOR2	123378001|123378001	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.996000|0.996000	0.88848|0.88848	5.984000|5.984000	0.70548|0.70548	1.164000|1.164000	0.42652|0.42652	0.491000|0.491000	0.48974|0.48974	GCT|ATG		0.577	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		14	23	0	0	0	1	0	14	23				
TNRC18	84629	broad.mit.edu	37	7	5399145	5399145	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5399145T>G	ENST00000430969.1	-	15	5065	c.4717A>C	c.(4717-4719)Aga>Cga	p.R1573R	TNRC18_ENST00000399537.4_Silent_p.R1573R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1573							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGTCTCTTTCTTATCCCTGCT	0.557																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4717-4719)Aga>Cga		trinucleotide repeat containing 18							194.0	191.0	192.0					7																	5399145		2044	4206	6250	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5399145T>G	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4717A>C	7.37:g.5399145T>G						TNRC18_ENST00000430969.1_Silent_p.R1573R	p.R1573R			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	15	5065	-		Ovarian(82;0.142)	1573					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.4717A>C	CCDS47534.1																																																																																				0.557	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				130	84	0	0	0	1	0	130	84				
LSMEM2	132228	broad.mit.edu	37	3	50324117	50324117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50324117G>A	ENST00000316436.3	+	3	272	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	62						integral component of membrane (GO:0016021)											GGCACACTGCGCCCCTATCTA	0.632																																						ENST00000316436.3																			0											c.(184-186)cGc>cAc		leucine-rich single-pass membrane protein 2							74.0	70.0	71.0					3																	50324117		2203	4300	6503	SO:0001583	missense	132228							g.chr3:50324117G>A	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.185G>A	3.37:g.50324117G>A	ENSP00000315081:p.Arg62His						p.R62H	NM_153215.1	NP_694947.1					3	272	+									Missense_Mutation	SNP	ENST00000316436.3	37	c.185G>A	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358203	0.24598	.	.	ENSG00000179564	ENST00000316436	.	.	.	5.25	-2.15	0.07102	.	1.261870	0.05453	N	0.549790	T	0.28764	0.0713	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24799	-1.0150	9	0.24483	T	0.36	-17.2303	9.6218	0.39725	0.7214:0.0:0.2786:0.0	.	62	Q8N112	CC045_HUMAN	H	62	.	ENSP00000315081:R62H	R	+	2	0	C3orf45	50299121	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.741000	0.04855	-0.291000	0.09012	-0.291000	0.09656	CGC		0.632	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		11	15	0	0	0	1	0	11	15				
SLC12A2	6558	broad.mit.edu	37	5	127503458	127503458	+	Silent	SNP	T	T	C	rs1132905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127503458T>C	ENST00000262461.2	+	18	2811	c.2622T>C	c.(2620-2622)gcT>gcC	p.A874A	SLC12A2_ENST00000343225.4_Silent_p.A874A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	874					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TTTAGGCTGCTGGTCTTGGTC	0.338																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2620-2622)gcT>gcC		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						114.0	113.0	114.0					5																	127503458		2203	4300	6503	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127503458T>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2622T>C	5.37:g.127503458T>C						SLC12A2_ENST00000343225.4_Silent_p.A874A	p.A874A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	18	2811	+		all_cancers(142;0.0972)|Prostate(80;0.151)	874					Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.2622T>C	CCDS4144.1																																																																																				0.338	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		28	54	0	0	0	1	0	28	54				
AZI2	64343	broad.mit.edu	37	3	28365651	28365651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28365651G>A	ENST00000479665.1	-	8	1592	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	354					dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGATTTAGGAGGACTTGGAAA	0.403																																						ENST00000479665.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1060-1062)cCt>cTt		5-azacytidine induced 2							156.0	156.0	156.0					3																	28365651		2203	4299	6502	SO:0001583	missense	64343					mitochondrion|plasma membrane		g.chr3:28365651G>A	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.1061C>T	3.37:g.28365651G>A	ENSP00000419371:p.Pro354Leu					CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	p.P354L	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN			8	1592	-			354					A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	c.1061C>T	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116802	0.94385	.	.	ENSG00000163512	ENST00000479665	.	.	.	6.17	6.17	0.99709	.	0.047700	0.85682	D	0.000000	T	0.79969	0.4538	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79313	-0.1855	9	0.87932	D	0	-9.8756	20.8794	0.99867	0.0:0.0:1.0:0.0	.	354	Q9H6S1	AZI2_HUMAN	L	354	.	ENSP00000419371:P354L	P	-	2	0	AZI2	28340655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.241000	0.78201	2.941000	0.99782	0.655000	0.94253	CCT		0.403	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		5	178	0	0	0	1	0	5	178				
PCDHGA2	56113	broad.mit.edu	37	5	140720329	140720329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140720329C>T	ENST00000394576.2	+	1	1791	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACTCGGGCCAGA	0.692																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1789-1791)gaC>gaT									58.0	68.0	64.0					5																	140720329		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140720329C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1791C>T	5.37:g.140720329C>T						PCDHGA1_ENST00000517417.1_Intron	p.D597D	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1791	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1791C>T	CCDS47289.1																																																																																				0.692	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		46	65	0	0	0	1	0	46	65				
LAMA2	3908	broad.mit.edu	37	6	129813206	129813206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129813206C>T	ENST00000421865.2	+	57	8108	c.8059C>T	c.(8059-8061)Ctt>Ttt	p.L2687F	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2687	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2687I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATATGGAATCTTGTTATTAA	0.383																																						ENST00000421865.2																			1	Substitution - Missense(1)	p.L2687I(1)	large_intestine(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8059-8061)Ctt>Ttt		laminin, alpha 2							79.0	82.0	81.0					6																	129813206		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129813206C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8059C>T	6.37:g.129813206C>T	ENSP00000400365:p.Leu2687Phe					LAMA2_ENST00000498257.1_3'UTR	p.L2687F	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	57	8108	+			2687			Laminin G-like 3.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8059C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502021	0.64298	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.78707	-1.2	5.42	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.054736	0.64402	D	0.000001	T	0.80581	0.4650	M	0.69823	2.125	0.52501	D	0.999956	D;D	0.67145	0.996;0.996	D;D	0.68483	0.958;0.958	T	0.80732	-0.1251	9	.	.	.	.	11.1864	0.48660	0.0:0.8021:0.1286:0.0693	.	2688;2687	A6NF00;P24043	.;LAMA2_HUMAN	F	2687;2686;2687;705	ENSP00000400365:L2687F	.	L	+	1	0	LAMA2	129854899	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	2.309000	0.43699	0.761000	0.33130	0.563000	0.77884	CTT		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			21	57	0	0	0	1	0	21	57				
ARHGAP33	115703	broad.mit.edu	37	19	36276168	36276168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36276168G>A	ENST00000007510.4	+	18	1943	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G464D|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G600D			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	600					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGGCCGGGGCCCCAGTGTC	0.677																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1798-1800)gGc>gAc		Rho GTPase activating protein 33							30.0	38.0	36.0					19																	36276168		2199	4283	6482	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36276168G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1799G>A	19.37:g.36276168G>A	ENSP00000007510:p.Gly600Asp					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G464D|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G600D	p.G600D			O14559	RHG33_HUMAN			18	1943	+			600					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.1799G>A		.	.	.	.	.	.	.	.	.	.	G	18.45	3.626761	0.66901	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11169	3.19;2.8;3.22	4.34	4.34	0.51931	.	0.369026	0.25698	N	0.028885	T	0.11281	0.0275	N	0.22421	0.69	0.33694	D	0.613663	P;P;B	0.50443	0.629;0.935;0.172	B;P;B	0.52881	0.416;0.712;0.134	T	0.08700	-1.0709	10	0.46703	T	0.11	.	6.0871	0.19973	0.1019:0.1933:0.7048:0.0	.	600;464;600	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	D	600;600;464	ENSP00000007510:G600D;ENSP00000320038:G600D;ENSP00000368227:G464D	ENSP00000007510:G600D	G	+	2	0	ARHGAP33	40968008	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.714000	0.37961	2.269000	0.75478	0.462000	0.41574	GGC		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		17	28	0	0	0	1	0	17	28				
KRT81	3887	broad.mit.edu	37	12	52681784	52681784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52681784G>T	ENST00000327741.5	-	5	952	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	295	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGTACCAGGACTCGGCCTC	0.557																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(883-885)tCc>tAc		keratin 81							85.0	75.0	78.0					12																	52681784		2203	4300	6503	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681784G>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.884C>A	12.37:g.52681784G>T	ENSP00000369349:p.Ser295Tyr					KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.S295Y	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	952	-			295			Coil 2.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.884C>A	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294222	0.60086	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	T	0.78246	-1.16	4.48	2.6	0.31112	Filament (1);	0.378796	0.19163	U	0.121125	D	0.87026	0.6075	M	0.87269	2.87	0.28889	N	0.893978	D	0.57257	0.979	D	0.65573	0.936	T	0.80991	-0.1135	10	0.87932	D	0	.	9.7547	0.40496	0.0795:0.1456:0.7749:0.0	.	295	Q14533	KRT81_HUMAN	Y	295	ENSP00000369349:S295Y	ENSP00000369349:S295Y	S	-	2	0	KRT81	50968051	0.062000	0.20869	1.000000	0.80357	0.988000	0.76386	1.364000	0.34171	0.875000	0.35847	0.556000	0.70494	TCC		0.557	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		14	37	1	0	1.99824e-07	1	2.35189e-07	14	37				
OR6K3	391114	broad.mit.edu	37	1	158687330	158687330	+	Silent	SNP	C	C	T	rs200913569		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158687330C>T	ENST00000368146.1	-	1	623	c.624G>A	c.(622-624)acG>acA	p.T208T	OR6K3_ENST00000368145.1_Silent_p.T192T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAATCATGGACGTGTCTGTAC	0.448																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(622-624)acG>acA		olfactory receptor, family 6, subfamily K, member 3		C		0,4406		0,0,2203	159.0	152.0	154.0		576	-7.8	0.0	1		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6K3	NM_001005327.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		192/316	158687330	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687330C>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.624G>A	1.37:g.158687330C>T						OR6K3_ENST00000368145.1_Silent_p.T192T	p.T208T			Q8NGY3	OR6K3_HUMAN			1	623	-	all_hematologic(112;0.0378)		208					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.624G>A																																																																																					0.448	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				32	53	0	0	0	1	0	32	53				
USP4	7375	broad.mit.edu	37	3	49365228	49365228	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49365228T>G	ENST00000265560.4	-	3	297	c.251A>C	c.(250-252)aAa>aCa	p.K84T	USP4_ENST00000415188.1_Missense_Mutation_p.K84T|USP4_ENST00000351842.4_Missense_Mutation_p.K84T|USP4_ENST00000416417.1_Missense_Mutation_p.K84T	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	84	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTGTTCTTTCAAGGTCTG	0.413																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(250-252)aAa>aCa		ubiquitin specific peptidase 4 (proto-oncogene)							105.0	99.0	101.0					3																	49365228		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49365228T>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.251A>C	3.37:g.49365228T>G	ENSP00000265560:p.Lys84Thr					USP4_ENST00000415188.1_Missense_Mutation_p.K84T|USP4_ENST00000265560.4_Missense_Mutation_p.K84T|USP4_ENST00000416417.1_Missense_Mutation_p.K84T	p.K84T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	3	259	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	84			DUSP.		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.251A>C	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719563	0.89205	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.36699	1.73;1.84;1.24	6.07	6.07	0.98685	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.66587	0.2804	M	0.88105	2.93	0.80722	D	1	D;D	0.57571	0.98;0.968	D;D	0.73380	0.966;0.98	T	0.72928	-0.4143	10	0.72032	D	0.01	-23.1328	15.4756	0.75478	0.0:0.0:0.0:1.0	.	84;84	Q13107-2;Q13107	.;UBP4_HUMAN	T	84	ENSP00000341028:K84T;ENSP00000265560:K84T;ENSP00000400623:K84T	ENSP00000265560:K84T	K	-	2	0	USP4	49340232	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.746000	0.85057	2.326000	0.78906	0.533000	0.62120	AAA		0.413	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		12	60	0	0	0	1	0	12	60				
FAM213A	84293	broad.mit.edu	37	10	82180237	82180237	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:82180237A>G	ENST00000372181.1	+	1	484	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	FAM213A_ENST00000372188.1_Missense_Mutation_p.Q5R|FAM213A_ENST00000372187.5_Missense_Mutation_p.Q5R|FAM213A_ENST00000372185.1_Splice_Site	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	5					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										TCTTTCCTCCAGGACCCAAGT	0.542																																						ENST00000372181.1																			0											c.(13-15)cAg>cGg		family with sequence similarity 213, member A							74.0	71.0	72.0					10																	82180237		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82180237A>G	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.14A>G	10.37:g.82180237A>G	ENSP00000361254:p.Gln5Arg					FAM213A_ENST00000372188.1_Missense_Mutation_p.Q5R|FAM213A_ENST00000372187.5_Missense_Mutation_p.Q5R|FAM213A_ENST00000372185.1_Splice_Site	p.Q5R	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			1	484	+			5					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.14A>G	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372954	0.42105	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372181	.	.	.	4.9	0.787	0.18596	.	0.361019	0.25414	N	0.030848	T	0.28300	0.0699	L	0.44542	1.39	0.24673	N	0.993405	B	0.26975	0.165	B	0.25884	0.064	T	0.12993	-1.0526	9	0.25106	T	0.35	-15.3803	6.4386	0.21837	0.5559:0.2991:0.0:0.145	.	5	Q9BRX8	PAMM_HUMAN	R	5	.	ENSP00000361254:Q5R	Q	+	2	0	C10orf58	82170217	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.709000	0.25734	0.365000	0.24400	0.533000	0.62120	CAG		0.542	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			7	63	0	0	0	1	0	7	63				
KCNJ12	3768	broad.mit.edu	37	17	21319618	21319618	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21319618C>A	ENST00000583088.1	+	3	1859	c.964C>A	c.(964-966)Ctg>Atg	p.L322M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L322M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	322					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.L322L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAATGAGATCCTGTGGGGTCA	0.582										Prostate(3;0.18)																												ENST00000583088.1																			1	Substitution - coding silent(1)	p.L322L(1)	skin(1)	NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(964-966)Ctg>Atg		potassium inwardly-rectifying channel, subfamily J, member 12							132.0	134.0	133.0					17																	21319618		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319618C>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.964C>A	17.37:g.21319618C>A	ENSP00000463778:p.Leu322Met	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.L322M	p.L322M	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1859	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.964C>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.788026	0.49997	.	.	ENSG00000184185	ENST00000331718	D	0.95377	-3.69	5.63	4.65	0.58169	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.146690	0.47455	D	0.000229	D	0.95862	0.8653	M	0.80183	2.485	0.51233	D	0.999914	P	0.36222	0.544	B	0.42462	0.388	D	0.95619	0.8679	10	0.62326	D	0.03	.	14.406	0.67083	0.0:0.9289:0.0:0.0711	.	322	Q14500	IRK12_HUMAN	M	322	ENSP00000328150:L322M	ENSP00000328150:L322M	L	+	1	2	KCNJ12	21260211	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.597000	0.46214	1.379000	0.46325	0.561000	0.74099	CTG		0.582	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		19	109	1	0	5.35267e-07	1	6.25286e-07	19	109				
ZDHHC23	254887	broad.mit.edu	37	3	113673059	113673059	+	Missense_Mutation	SNP	C	C	A	rs147787442		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113673059C>A	ENST00000330212.3	+	3	973	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P219H	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	225					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P225L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGGGTTCCCTGGGGCAGAC	0.572																																						ENST00000330212.3																			1	Substitution - Missense(1)	p.P225L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(673-675)cCt>cAt		zinc finger, DHHC-type containing 23							93.0	94.0	94.0					3																	113673059		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113673059C>A	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.674C>A	3.37:g.113673059C>A	ENSP00000330485:p.Pro225His					ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P219H	p.P225H	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN			3	973	+			225					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.674C>A	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	C	0.982	-0.696878	0.03279	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.43688	0.94;0.94	5.49	2.76	0.32466	.	0.959225	0.08775	N	0.895612	T	0.23572	0.0570	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30909	-0.9962	10	0.15499	T	0.54	-14.7409	4.7909	0.13248	0.1844:0.5804:0.0:0.2352	.	225	Q8IYP9	ZDH23_HUMAN	H	225;219	ENSP00000330485:P225H;ENSP00000417840:P219H	ENSP00000330485:P225H	P	+	2	0	ZDHHC23	115155749	0.088000	0.21588	0.331000	0.25455	0.215000	0.24574	0.559000	0.23485	0.296000	0.22592	0.561000	0.74099	CCT		0.572	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		14	118	1	0	2.32078e-09	1	2.82054e-09	14	118				
USP15	9958	broad.mit.edu	37	12	62783719	62783719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62783719C>T	ENST00000280377.5	+	14	1853	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R570*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R574*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	599	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCTGTACCACGAAACAATAC	0.363																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1795-1797)Cga>Tga		ubiquitin specific peptidase 15							70.0	65.0	67.0					12																	62783719		2203	4300	6503	SO:0001587	stop_gained	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62783719C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1795C>T	12.37:g.62783719C>T	ENSP00000280377:p.Arg599*					USP15_ENST00000353364.3_Nonsense_Mutation_p.R570*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R574*	p.R599*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	14	1853	+			599					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Nonsense_Mutation	SNP	ENST00000280377.5	37	c.1795C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544296	0.96488	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	.	.	.	5.72	3.72	0.42706	.	0.059477	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.596	13.0943	0.59182	0.3327:0.6673:0.0:0.0	.	.	.	.	X	570;599;574	.	.	R	+	1	2	USP15	61069986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.740000	0.38228	2.711000	0.92665	0.655000	0.94253	CGA		0.363	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		16	18	0	0	0	1	0	16	18				
MCF2L	23263	broad.mit.edu	37	13	113743999	113743999	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113743999C>T	ENST00000375608.3	+	27	3058	c.3000C>T	c.(2998-3000)taC>taT	p.Y1000Y	MCF2L_ENST00000434480.2_Silent_p.Y976Y|MCF2L_ENST00000421756.1_Silent_p.Y974Y|MCF2L_ENST00000397030.1_Silent_p.Y1003Y|MCF2L_ENST00000375604.2_Silent_p.Y1027Y|MCF2L_ENST00000442652.2_Silent_p.Y1000Y|MCF2L_ENST00000375597.4_Silent_p.Y968Y|MCF2L_ENST00000535094.2_Silent_p.Y970Y|MCF2L_ENST00000423482.2_Silent_p.Y968Y|MCF2L_ENST00000375601.3_Silent_p.Y974Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1000					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGAGGGATACGTCAGCTCAG	0.547																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3007-3009)taC>taT		MCF.2 cell line derived transforming sequence-like							92.0	77.0	82.0					13																	113743999		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113743999C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3000C>T	13.37:g.113743999C>T						MCF2L_ENST00000375597.4_Silent_p.Y968Y|MCF2L_ENST00000375608.3_Silent_p.Y1000Y|MCF2L_ENST00000535094.2_Silent_p.Y970Y|MCF2L_ENST00000434480.2_Silent_p.Y976Y|MCF2L_ENST00000375601.3_Silent_p.Y974Y|MCF2L_ENST00000442652.2_Silent_p.Y1000Y|MCF2L_ENST00000375604.2_Silent_p.Y1027Y|MCF2L_ENST00000421756.1_Silent_p.Y974Y|MCF2L_ENST00000423482.2_Silent_p.Y968Y	p.Y1003Y			O15068	MCF2L_HUMAN			26	3046	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	1000					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.3009C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.043|0.043	-1.275783|-1.275783	0.01410|0.01410	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297;ENST00000439475|ENST00000413354;ENST00000261963;ENST00000420013	.|.	.|.	.|.	4.7|4.7	-5.42|-5.42	0.02640|0.02640	.|.	.|.	.|.	.|.	.|.	T|T	0.43255|0.43255	0.1239|0.1239	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39761|0.39761	-0.9598|-0.9598	4|4	.|.	.|.	.|.	.|.	16.283|16.283	0.82707|0.82707	0.0:0.2679:0.0:0.7321|0.0:0.2679:0.0:0.7321	.|.	.|.	.|.	.|.	C|M	631;125;76|200;141;17	.|.	.|.	R|T	+|+	1|2	0|0	MCF2L|MCF2L	112792000|112792000	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.876000|-0.876000	0.04201|0.04201	-1.737000|-1.737000	0.01350|0.01350	-1.119000|-1.119000	0.02030|0.02030	CGT|ACG		0.547	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	26	0	0	0	1	0	5	26				
XPR1	9213	broad.mit.edu	37	1	180780624	180780624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180780624G>A	ENST00000367590.4	+	7	961	c.763G>A	c.(763-765)Gct>Act	p.A255T	XPR1_ENST00000367589.3_Splice_Site_p.A255T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	255					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTGCTTGCCGGTAAGTAGTT	0.373																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.e7+1		xenotropic and polytropic retrovirus receptor 1							138.0	124.0	129.0					1																	180780624		2203	4300	6503	SO:0001630	splice_region_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180780624G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.763+1G>A	1.37:g.180780624G>A						XPR1_ENST00000367589.3_Splice_Site_p.A255_splice	p.A255_splice	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			7	961	+			255					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Splice_Site	SNP	ENST00000367590.4	37	c.763_splice	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344124	0.82022	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.46063	0.88	5.4	5.4	0.78164	.	0.047769	0.85682	D	0.000000	T	0.40767	0.1130	L	0.56199	1.76	0.58432	D	0.999997	B;P	0.51653	0.212;0.947	B;B	0.38921	0.016;0.285	T	0.41124	-0.9526	10	0.44086	T	0.13	-7.727	19.1407	0.93445	0.0:0.0:1.0:0.0	.	255;255	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	255	ENSP00000356562:A255T	ENSP00000356561:A255T	A	+	1	0	XPR1	179047247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.836000	0.92105	2.673000	0.90976	0.655000	0.94253	GCT		0.373	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	Missense_Mutation	4	78	0	0	0	1	0	4	78				
CRLF2	64109	broad.mit.edu	37	X	1314993	1314993	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1314993G>A	ENST00000381567.3	-	6	667	c.668C>T	c.(667-669)aCg>aTg	p.T223M	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	223					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTGGGAGGCGTTGGTGTCTC	0.448			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								g|||	1	0.000199681	0.0	0.0	5008	,	,		15511	0.001		0.0	False		,,,				2504	0.0					ENST00000381567.3				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	"""Mis, T"""	cytokine receptor-like factor 2			L	"""P2RY8, IGH@"""		"""B-ALL, Downs associated ALL"""		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(667-669)aCg>aTg		cytokine receptor-like factor 2		G	MET/THR,MET/THR	2,3724		0,2,1861	174.0	177.0	176.0		332,668	-2.2	0.0	X		176	0,8208		0,0,4104	no	missense,missense	CRLF2	NM_001012288.1,NM_022148.2	81,81	0,2,5965	AA,AG,GG		0.0,0.0537,0.0168	benign,benign	111/152,223/372	1314993	2,11932	1863	4104	5967	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1314993G>A	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.668C>T	X.37:g.1314993G>A	ENSP00000370979:p.Thr223Met					CRLF2_ENST00000467626.1_5'UTR	p.T223M	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			6	667	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	223					Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37	c.668C>T		.	.	.	.	.	.	.	.	.	.	g	6.462	0.453378	0.12283	5.37E-4	0.0	ENSG00000205755	ENST00000381567;ENST00000400841	D;D	0.98313	-4.86;-4.86	1.34	-2.22	0.06952	.	35.754200	0.01189	U	0.007261	D	0.94545	0.8243	.	.	.	0.09310	N	1	D	0.54964	0.969	B	0.40285	0.325	D	0.91049	0.4877	9	0.37606	T	0.19	1.3549	2.357	0.04298	0.271:0.3268:0.4023:0.0	.	223	Q9HC73	CRLF2_HUMAN	M	223	ENSP00000370979:T223M;ENSP00000383641:T223M	ENSP00000370979:T223M	T	-	2	0	CRLF2	1274993	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.712000	0.05013	-0.172000	0.10779	0.115000	0.15696	ACG		0.448	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		15	21	0	0	0	1	0	15	21				
COA6	388753	broad.mit.edu	37	1	234509404	234509404	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234509404C>T	ENST00000366613.1	+	0	0				RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366612.1_5'Flank|RP5-827C21.4_ENST00000451795.1_RNA|COA6_ENST00000366615.4_Silent_p.A64A	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										GAAAGGAAGCCGGACGTGGGC	0.711																																						ENST00000366615.4																			0											c.(190-192)gcC>gcT		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	388753							g.chr1:234509404C>T		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945		1.37:g.234509404C>T	Exception_encountered						p.A64A	NM_001206641.1	NP_001193570.1					1	203	+								Q5JTJ2|Q5JTJ4|Q8TA88	Silent	SNP	ENST00000366613.1	37	c.192C>T	CCDS31059.1																																																																																				0.711	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		38	87	0	0	0	1	0	38	87				
CCDC40	55036	broad.mit.edu	37	17	78011930	78011930	+	Missense_Mutation	SNP	C	C	A	rs541172966	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78011930C>A	ENST00000397545.4	+	2	65	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	CCDC40_ENST00000269318.5_Missense_Mutation_p.P13Q|CCDC40_ENST00000374876.4_Missense_Mutation_p.P13Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.P13Q|TBC1D16_ENST00000310924.2_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	13					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCCCATCCGGAAGATGGA	0.423																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(37-39)cCg>cAg		coiled-coil domain containing 40							60.0	59.0	59.0					17																	78011930		1831	4080	5911	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78011930C>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.38C>A	17.37:g.78011930C>A	ENSP00000380679:p.Pro13Gln					CCDC40_ENST00000374876.4_Missense_Mutation_p.P13Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.P13Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.P13Q	p.P13Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	65	+	all_neural(118;0.167)		13					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.38C>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	8.059	0.767670	0.15983	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.49139	0.81;0.79;0.81;0.86	3.24	-6.48	0.01896	.	.	.	.	.	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	1	P;B	0.37688	0.605;0.024	B;B	0.33295	0.161;0.007	T	0.14144	-1.0483	9	0.44086	T	0.13	-2.15	4.821	0.13390	0.3146:0.4303:0.0:0.2551	.	13;13	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	Q	13	ENSP00000364011:P13Q;ENSP00000269318:P13Q;ENSP00000364010:P13Q;ENSP00000380679:P13Q	ENSP00000269318:P13Q	P	+	2	0	CCDC40	75626525	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.808000	0.00756	-2.689000	0.00404	0.655000	0.94253	CCG		0.423	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		4	15	1	0	0.00909568	1	0.00947522	4	15				
FOXQ1	94234	broad.mit.edu	37	6	1313531	1313531	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1313531C>T	ENST00000296839.2	+	1	857	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	198					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GATGCTCAACCCCAACAGCGA	0.701																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(592-594)Ccc>Tcc		forkhead box Q1							34.0	38.0	37.0					6																	1313531		2202	4296	6498	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313531C>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.592C>T	6.37:g.1313531C>T	ENSP00000296839:p.Pro198Ser						p.P198S	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	857	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	198					Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.592C>T	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874535	0.51695	.	.	ENSG00000164379	ENST00000296839	D	0.95656	-3.77	3.27	3.27	0.37495	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.074424	0.53938	U	0.000043	D	0.92698	0.7679	L	0.49256	1.55	0.58432	D	0.999997	P	0.40000	0.698	P	0.45474	0.482	D	0.93847	0.7142	10	0.87932	D	0	.	13.406	0.60913	0.0:1.0:0.0:0.0	.	198	Q9C009	FOXQ1_HUMAN	S	198	ENSP00000296839:P198S	ENSP00000296839:P198S	P	+	1	0	FOXQ1	1258531	1.000000	0.71417	0.984000	0.44739	0.310000	0.27922	5.012000	0.64017	1.722000	0.51474	0.064000	0.15345	CCC		0.701	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		15	22	0	0	0	1	0	15	22				
TDRD6	221400	broad.mit.edu	37	6	46657579	46657579	+	Nonsense_Mutation	SNP	C	C	T	rs141346043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46657579C>T	ENST00000316081.6	+	1	1714	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.R572*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTTAGTTGACCGAGGCAATTC	0.443																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1714-1716)Cga>Tga		tudor domain containing 6							165.0	162.0	163.0					6																	46657579		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657579C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1714C>T	6.37:g.46657579C>T	ENSP00000346065:p.Arg572*					TDRD6_ENST00000316081.6_Nonsense_Mutation_p.R572*	p.R572*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1968	+			572			Tudor 3.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.1714C>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	37	6.112739	0.97296	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	6.02	5.14	0.70334	.	0.476736	0.24676	N	0.036505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-9.5696	14.1654	0.65473	0.3239:0.6761:0.0:0.0	.	.	.	.	X	572	.	ENSP00000346065:R572X	R	+	1	2	TDRD6	46765538	0.752000	0.28338	0.998000	0.56505	0.889000	0.51656	0.722000	0.25925	1.519000	0.48950	0.655000	0.94253	CGA		0.443	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		54	97	0	0	0	1	0	54	97				
UPK3A	7380	broad.mit.edu	37	22	45681909	45681909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45681909G>A	ENST00000216211.4	+	2	172	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	UPK3A_ENST00000396082.2_Missense_Mutation_p.C47Y	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	47					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGCCTCTCTGCATGTTTGAC	0.572																																						ENST00000216211.4																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(139-141)tGc>tAc		uroplakin 3A							147.0	108.0	121.0					22																	45681909		2203	4300	6503	SO:0001583	missense	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45681909G>A	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.140G>A	22.37:g.45681909G>A	ENSP00000216211:p.Cys47Tyr					UPK3A_ENST00000396082.2_Missense_Mutation_p.C47Y	p.C47Y	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	2	172	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	47					B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	c.140G>A	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006016	0.74932	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	D;D	0.93488	-2.08;-3.23	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.61703	1.905	0.31191	N	0.700908	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94992	0.8135	10	0.87932	D	0	-11.6531	16.3809	0.83461	0.0:0.0:1.0:0.0	.	47;47	O75631-2;O75631	.;UPK3A_HUMAN	Y	47	ENSP00000216211:C47Y;ENSP00000379391:C47Y	ENSP00000216211:C47Y	C	+	2	0	UPK3A	44060573	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	5.346000	0.65992	2.435000	0.82474	0.655000	0.94253	TGC		0.572	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		18	38	0	0	0	1	0	18	38				
TACC2	10579	broad.mit.edu	37	10	123781513	123781513	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123781513G>T	ENST00000369005.1	+	2	357	c.17G>T	c.(16-18)aGc>aTc	p.S6I	TACC2_ENST00000513429.1_Missense_Mutation_p.S6I|TACC2_ENST00000453444.2_Missense_Mutation_p.S6I|TACC2_ENST00000334433.3_Missense_Mutation_p.S6I|TACC2_ENST00000515603.1_Missense_Mutation_p.S6I|TACC2_ENST00000515273.1_Missense_Mutation_p.S6I|TACC2_ENST00000358010.1_Missense_Mutation_p.S6I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	6					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AATGAGAACAGCACCTCGGAC	0.483																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(16-18)aGc>aTc		transforming, acidic coiled-coil containing protein 2							117.0	98.0	104.0					10																	123781513		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123781513G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.17G>T	10.37:g.123781513G>T	ENSP00000358001:p.Ser6Ile					TACC2_ENST00000358010.1_Missense_Mutation_p.S6I|TACC2_ENST00000513429.1_Missense_Mutation_p.S6I|TACC2_ENST00000334433.3_Missense_Mutation_p.S6I|TACC2_ENST00000515273.1_Missense_Mutation_p.S6I|TACC2_ENST00000453444.2_Missense_Mutation_p.S6I|TACC2_ENST00000515603.1_Missense_Mutation_p.S6I	p.S6I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			2	357	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	6					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.17G>T	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052723|3.052723	0.55218|0.55218	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000491540|ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444	.|T;T;T;T;T;T;T	.|0.52526	.|0.66;0.66;3.47;3.5;0.66;0.66;3.47	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|.	.|.	.|.	.|.	T|T	0.55305|0.55305	0.1912|0.1912	N|N	0.19112|0.19112	0.55|0.55	0.33132|0.33132	D|D	0.543284|0.543284	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.997;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.997;0.994;0.997	T|T	0.65561|0.65561	-0.6138|-0.6138	5|9	.|0.87932	.|D	.|0	-12.9207|-12.9207	15.9123|15.9123	0.79482|0.79482	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6;6;6;6	.|E9PBC6;E7EMZ9;O95359-5;O95359	.|.;.;.;TACC2_HUMAN	H|I	2|6	.|ENSP00000358001:S6I;ENSP00000425062:S6I;ENSP00000424467:S6I;ENSP00000427618:S6I;ENSP00000334280:S6I;ENSP00000350701:S6I;ENSP00000395048:S6I	.|ENSP00000334280:S6I	Q|S	+|+	3|2	2|0	TACC2|TACC2	123771503|123771503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.879000|3.879000	0.56138|0.56138	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.483	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	25	1	0	4.93089e-13	1	6.23885e-13	13	25				
ABHD2	11057	broad.mit.edu	37	15	89736483	89736483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89736483G>A	ENST00000352732.5	+	10	1534	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	ABHD2_ENST00000355100.3_Missense_Mutation_p.M338I|ABHD2_ENST00000565973.1_Missense_Mutation_p.M338I	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	338					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCTCTCATGCTGGTTAATG	0.433																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(1012-1014)atG>atA		abhydrolase domain containing 2							213.0	174.0	187.0					15																	89736483		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89736483G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1014G>A	15.37:g.89736483G>A	ENSP00000268129:p.Met338Ile					ABHD2_ENST00000355100.3_Missense_Mutation_p.M338I|ABHD2_ENST00000565973.1_Missense_Mutation_p.M338I	p.M338I	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			10	1534	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		338					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.1014G>A	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107428	0.20714	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.41065	1.01;1.01	5.33	5.33	0.75918	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);Alpha/beta hydrolase fold-1 (1);	0.123265	0.64402	D	0.000002	T	0.18676	0.0448	N	0.01188	-0.97	0.38515	D	0.948568	B	0.02656	0.0	B	0.04013	0.001	T	0.11941	-1.0567	10	0.42905	T	0.14	-1.0186	14.2609	0.66085	0.0:0.0:0.8511:0.1489	.	338	P08910	ABHD2_HUMAN	I	338	ENSP00000268129:M338I;ENSP00000347217:M338I	ENSP00000268129:M338I	M	+	3	0	ABHD2	87537487	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.239000	0.51360	2.644000	0.89710	0.563000	0.77884	ATG		0.433	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			7	72	0	0	0	1	0	7	72				
LRRC41	10489	broad.mit.edu	37	1	46764040	46764040	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46764040G>T	ENST00000343304.6	-	2	487	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	68					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCCTGGGAGGGCTACAAAA	0.423																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(202-204)Ctc>Atc		leucine rich repeat containing 41							86.0	91.0	89.0					1																	46764040		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46764040G>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.202C>A	1.37:g.46764040G>T	ENSP00000343298:p.Leu68Ile					LRRC41_ENST00000472710.1_5'UTR	p.L68I	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			2	487	-	Acute lymphoblastic leukemia(166;0.155)		68					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.202C>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452376	0.84209	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.83837	-1.77	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000007	D	0.86573	0.5965	L	0.27053	0.805	0.38010	D	0.934509	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.83275	0.992;0.996;0.992	D	0.88993	0.3416	10	0.87932	D	0	-5.0476	17.8275	0.88669	0.0:0.0:1.0:0.0	.	68;46;68	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	I	68;46	ENSP00000343298:L68I	ENSP00000343298:L68I	L	-	1	0	LRRC41	46536627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.253000	0.65452	2.746000	0.94184	0.591000	0.81541	CTC		0.423	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		20	26	1	0	3.51602e-12	1	4.4132e-12	20	26				
AKAP13	11214	broad.mit.edu	37	15	86227999	86227999	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86227999G>A	ENST00000394518.2	+	16	5279	c.5184G>A	c.(5182-5184)ctG>ctA	p.L1728L	AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.L1732L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1728					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATAATTTCCTGCCACATAGCC	0.333																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(5182-5184)ctG>ctA		A kinase (PRKA) anchor protein 13							81.0	78.0	79.0					15																	86227999		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86227999G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5184G>A	15.37:g.86227999G>A						AKAP13_ENST00000361243.2_Silent_p.L1732L|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	p.L1728L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			16	5279	+			1728					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5184G>A	CCDS32319.1																																																																																				0.333	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		4	73	0	0	0	1	0	4	73				
JRKL	8690	broad.mit.edu	37	11	96125218	96125218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96125218G>T	ENST00000332349.4	+	2	1652	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|JRKL_ENST00000458427.1_Nonsense_Mutation_p.E469*|CCDC82_ENST00000542662.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	469					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E469*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAGGAAATAGAACTAATTCC	0.403																																						ENST00000458427.1																			1	Substitution - Nonsense(1)	p.E469*(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11						c.(1405-1407)Gaa>Taa		jerky homolog-like (mouse)							65.0	56.0	59.0					11																	96125218		2201	4298	6499	SO:0001587	stop_gained	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96125218G>T	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1405G>T	11.37:g.96125218G>T	ENSP00000333350:p.Glu469*					JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Nonsense_Mutation_p.E469*	p.E469*	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	1	2061	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	469					A8K3G4|B2RAJ3|Q32MC2	Nonsense_Mutation	SNP	ENST00000332349.4	37	c.1405G>T	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	G	43	10.097060	0.99336	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	.	.	.	4.79	4.79	0.61399	.	0.000000	0.41823	D	0.000817	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-18.3566	13.6908	0.62544	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000333350:E469X	E	+	1	0	JRKL	95764866	1.000000	0.71417	0.977000	0.42913	0.928000	0.56348	4.708000	0.61859	2.360000	0.80028	0.462000	0.41574	GAA		0.403	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		21	26	1	0	2.4624e-09	1	2.98951e-09	21	26				
KRT81	3887	broad.mit.edu	37	12	52682229	52682229	+	Silent	SNP	G	G	A	rs140435760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52682229G>A	ENST00000327741.5	-	4	719	c.651C>T	c.(649-651)tgC>tgT	p.C217C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	217	Coil 1B.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGTAGGCGCAGTCCACAT	0.622																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(649-651)tgC>tgT		keratin 81		G		1,4405	2.1+/-5.4	0,1,2202	110.0	111.0	111.0		651	-9.4	0.4	12	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT81	NM_002281.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		217/506	52682229	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52682229G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.651C>T	12.37:g.52682229G>A						KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.C217C	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	719	-			217			Coil 1B.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.651C>T	CCDS31805.1																																																																																				0.622	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		39	69	0	0	0	1	0	39	69				
MYO7B	4648	broad.mit.edu	37	2	128391772	128391772	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128391772A>G	ENST00000409816.2	+	39	5487	c.5455A>G	c.(5455-5457)Aca>Gca	p.T1819A	MYO7B_ENST00000409090.1_Missense_Mutation_p.T672A|MYO7B_ENST00000428314.1_Missense_Mutation_p.T1819A|MYO7B_ENST00000389524.4_Missense_Mutation_p.T1820A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1819	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.|MyTH4 3. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTTGCCAACACACGGGTGCG	0.637																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5458-5460)Aca>Gca		myosin VIIB							25.0	28.0	27.0					2																	128391772		2016	4176	6192	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128391772A>G		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5455A>G	2.37:g.128391772A>G	ENSP00000386461:p.Thr1819Ala					MYO7B_ENST00000409816.2_Missense_Mutation_p.T1819A|MYO7B_ENST00000428314.1_Missense_Mutation_p.T1819A|MYO7B_ENST00000409090.1_Missense_Mutation_p.T672A	p.T1820A			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	40	5511	+	Colorectal(110;0.1)		1819			FERM 2.|MyTH4 3.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5458A>G	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	a	8.946	0.967032	0.18659	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.14	1.12	0.20585	Band 4.1 domain (1);FERM domain (1);	0.243311	0.41097	D	0.000942	T	0.65196	0.2668	L	0.46670	1.46	0.09310	N	1	B	0.21381	0.055	B	0.20384	0.029	T	0.56932	-0.7897	10	0.66056	D	0.02	.	3.3892	0.07282	0.5375:0.2648:0.0706:0.1271	.	1819	Q6PIF6	MYO7B_HUMAN	A	1820;1819;915;1819;672	ENSP00000374175:T1820A;ENSP00000415090:T1819A;ENSP00000386461:T1819A;ENSP00000386850:T672A	ENSP00000272666:T915A	T	+	1	0	MYO7B	128108242	0.986000	0.35501	0.000000	0.03702	0.103000	0.19146	4.187000	0.58344	-0.049000	0.13379	0.454000	0.30748	ACA		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	4	0	0	0	1	0	6	4				
ARL4A	10124	broad.mit.edu	37	7	12728276	12728276	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12728276G>A	ENST00000396663.1	+	2	879	c.397G>A	c.(397-399)Gct>Act	p.A133T	ARL4A_ENST00000396664.2_Missense_Mutation_p.A133T|ARL4A_ENST00000404894.1_Missense_Mutation_p.A133T|ARL4A_ENST00000356797.3_Missense_Mutation_p.A133T|ARL4A_ENST00000396662.1_Missense_Mutation_p.A133T	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	133					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		ACTTATAGTTGCTAACAAACA	0.398																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(397-399)Gct>Act		ADP-ribosylation factor-like 4A							77.0	73.0	74.0					7																	12728276		2203	4300	6503	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728276G>A	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.397G>A	7.37:g.12728276G>A	ENSP00000379898:p.Ala133Thr					ARL4A_ENST00000356797.3_Missense_Mutation_p.A133T|ARL4A_ENST00000396664.2_Missense_Mutation_p.A133T|ARL4A_ENST00000404894.1_Missense_Mutation_p.A133T|ARL4A_ENST00000396662.1_Missense_Mutation_p.A133T	p.A133T	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	879	+			133					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.397G>A	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557818	0.86231	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	4.67	4.67	0.58626	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96959	0.9700	10	0.87932	D	0	.	18.1307	0.89600	0.0:0.0:1.0:0.0	.	133	P40617	ARL4A_HUMAN	T	133	ENSP00000379897:A133T;ENSP00000349250:A133T;ENSP00000379899:A133T;ENSP00000379898:A133T;ENSP00000385236:A133T	ENSP00000349250:A133T	A	+	1	0	ARL4A	12694801	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.503000	0.97984	2.585000	0.87301	0.555000	0.69702	GCT		0.398	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		5	101	0	0	0	1	0	5	101				
ZNF594	84622	broad.mit.edu	37	17	5087572	5087572	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087572C>A	ENST00000575779.1	-	2	136		c.e2-1		ZNF594_ENST00000399604.4_5'UTR	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTTCAGAATCTGAAATGATA	0.358																																						ENST00000575779.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.e2-1		zinc finger protein 594							30.0	30.0	30.0					17																	5087572		1773	3909	5682	SO:0001630	splice_region_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087572C>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000575779.1:c.20-1G>T	17.37:g.5087572C>A						ZNF594_ENST00000399604.4_5'UTR		NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN			2	136	-								Q6RFS0	Splice_Site	SNP	ENST00000575779.1	37		CCDS42241.1																																																																																				0.358	ZNF594-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255082.2	XM_290737	Intron	8	29	1	0	0.00448238	1	0.00472561	8	29				
TECPR1	25851	broad.mit.edu	37	7	97861270	97861270	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97861270G>A	ENST00000447648.2	-	13	2119	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	TECPR1_ENST00000542604.1_Splice_Site_p.S537L|TECPR1_ENST00000379795.3_Splice_Site_p.S608L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	607					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCCACACCGACTGCGCAGG	0.721																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.e13-1		tectonin beta-propeller repeat containing 1							22.0	26.0	25.0					7																	97861270		2055	4180	6235	SO:0001630	splice_region_variant	25851					integral to membrane	protein binding	g.chr7:97861270G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1819-1C>T	7.37:g.97861270G>A						TECPR1_ENST00000379795.3_Splice_Site_p.S608_splice|TECPR1_ENST00000542604.1_Splice_Site_p.S537_splice	p.S607_splice			Q7Z6L1	TCPR1_HUMAN			13	2119	-			607					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Splice_Site	SNP	ENST00000447648.2	37	c.1818_splice	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783286	0.70222	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.37058	1.22;1.22;1.22	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.73598	2.24	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.87578	0.976;0.998	T	0.63633	-0.6593	10	0.56958	D	0.05	-17.045	18.5628	0.91107	0.0:0.0:1.0:0.0	.	537;607	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	607;608;537	ENSP00000404923:S607L;ENSP00000369121:S608L;ENSP00000441121:S537L	ENSP00000369121:S608L	S	-	2	0	TECPR1	97699206	1.000000	0.71417	0.592000	0.28758	0.231000	0.25187	7.808000	0.86044	2.638000	0.89438	0.655000	0.94253	TCG		0.721	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395	Missense_Mutation	6	12	0	0	0	1	0	6	12				
MXRA5	25878	broad.mit.edu	37	X	3229644	3229644	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229644C>A	ENST00000217939.6	-	7	6754	c.6600G>T	c.(6598-6600)gtG>gtT	p.V2200V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2200	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTGGCAAACACCTTGATTC	0.448																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6598-6600)gtG>gtT		matrix-remodelling associated 5							50.0	49.0	49.0					X																	3229644		2197	4272	6469	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229644C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6600G>T	X.37:g.3229644C>A							p.V2200V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	6754	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2200			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6600G>T	CCDS14124.1																																																																																				0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	71	1	0	0.0215528	1	0.0221649	6	71				
TAF4B	6875	broad.mit.edu	37	18	23866114	23866114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23866114C>T	ENST00000269142.5	+	7	2239	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	TAF4B_ENST00000578121.1_Missense_Mutation_p.S414F|TAF4B_ENST00000400466.2_Missense_Mutation_p.S414F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	414					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACACTTCATTCTGTGGGCCCA	0.498																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1240-1242)tCt>tTt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							76.0	75.0	75.0					18																	23866114		1966	4165	6131	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866114C>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1241C>T	18.37:g.23866114C>T	ENSP00000269142:p.Ser414Phe					TAF4B_ENST00000578121.1_Missense_Mutation_p.S414F|TAF4B_ENST00000400466.2_Missense_Mutation_p.S414F	p.S414F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	2239	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		414					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1241C>T	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.719105	0.30503	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26223	1.75;1.79;1.75	5.7	5.7	0.88788	.	0.261393	0.32258	N	0.006346	T	0.27027	0.0662	L	0.27053	0.805	0.25110	N	0.990729	P;D	0.53885	0.956;0.963	P;P	0.50490	0.564;0.642	T	0.10314	-1.0635	10	0.37606	T	0.19	-2.1521	14.1651	0.65471	0.0:0.8503:0.1497:0.0	.	414;414	Q92750;A4PBF7	TAF4B_HUMAN;.	F	414	ENSP00000389365:S414F;ENSP00000269142:S414F;ENSP00000383314:S414F	ENSP00000269142:S414F	S	+	2	0	TAF4B	22120112	0.959000	0.32827	0.950000	0.38849	0.991000	0.79684	2.104000	0.41815	2.701000	0.92244	0.552000	0.68991	TCT		0.498	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		19	28	0	0	0	1	0	19	28				
NEURL4	84461	broad.mit.edu	37	17	7224923	7224923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224923G>A	ENST00000399464.2	-	18	3070	c.3055C>T	c.(3055-3057)Cag>Tag	p.Q1019*	NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q1017*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q995*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1019	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.		Q -> H (in dbSNP:rs3809813). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTGGAGCTGCCCATCACGC	0.652																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3055-3057)Cag>Tag		neuralized E3 ubiquitin protein ligase 4							78.0	87.0	84.0					17																	7224923		2098	4218	6316	SO:0001587	stop_gained	84461							g.chr17:7224923G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3055C>T	17.37:g.7224923G>A	ENSP00000382390:p.Gln1019*					NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q1017*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q995*	p.Q1019*	NM_032442.2	NP_115818.2					18	3070	-								Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	c.3055C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	39	7.768152	0.98480	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	5.0	5.0	0.66597	.	0.370692	0.28420	N	0.015411	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.5649	13.1596	0.59537	0.0:0.0:0.8396:0.1604	.	.	.	.	X	1017;1019	.	ENSP00000319826:Q1017X	Q	-	1	0	NEURL4	7165647	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.653000	0.46691	2.757000	0.94681	0.655000	0.94253	CAG		0.652	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		7	66	0	0	0	1	0	7	66				
DHX58	79132	broad.mit.edu	37	17	40257143	40257143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40257143G>T	ENST00000251642.3	-	10	1516	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	432	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGGTTCAGGGTTCCATCT	0.562																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1294-1296)Ctg>Atg		DEXH (Asp-Glu-X-His) box polypeptide 58							64.0	54.0	58.0					17																	40257143		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40257143G>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1294C>A	17.37:g.40257143G>T	ENSP00000251642:p.Leu432Met						p.L432M	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1516	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	432			Helicase C-terminal.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.1294C>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900425	0.52227	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.05717	3.4	5.11	3.12	0.35913	Helicase, C-terminal (3);	0.072296	0.56097	D	0.000027	T	0.18130	0.0435	M	0.75447	2.3	0.40761	D	0.983004	D;D	0.67145	0.996;0.989	P;P	0.59761	0.863;0.801	T	0.00817	-1.1554	10	0.52906	T	0.07	.	10.1712	0.42911	0.1629:0.0:0.8371:0.0	.	425;432	B7Z455;Q96C10	.;DHX58_HUMAN	M	432;395	ENSP00000251642:L432M	ENSP00000251642:L432M	L	-	1	2	DHX58	37510669	0.946000	0.32159	0.693000	0.30195	0.527000	0.34593	1.414000	0.34736	0.738000	0.32606	0.462000	0.41574	CTG		0.562	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		10	18	1	0	2.52707e-12	1	3.17576e-12	10	18				
RAB17	64284	broad.mit.edu	37	2	238485900	238485900	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238485900C>A	ENST00000264601.3	-	4	1064	c.435G>T	c.(433-435)caG>caT	p.Q145H	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Splice_Site_p.Q18H|RAB17_ENST00000409822.1_Splice_Site_p.Q18H	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	145					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TGGGCGGTACCTGGAAGGTCA	0.622																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.e4+1		RAB17, member RAS oncogene family							95.0	76.0	82.0					2																	238485900		2203	4300	6503	SO:0001630	splice_region_variant	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238485900C>A	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.435+1G>T	2.37:g.238485900C>A						RAB17_ENST00000538644.1_Splice_Site_p.Q18_splice|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Splice_Site_p.Q18_splice	p.Q145_splice	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	4	1064	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	145					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Splice_Site	SNP	ENST00000264601.3	37	c.435_splice	CCDS2520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.115772|4.115772	0.77323|0.77323	.|.	.|.	ENSG00000124839|ENSG00000124839	ENST00000264601;ENST00000538644;ENST00000409822;ENST00000411462|ENST00000430445	T;T;T;T|.	0.77750|.	-1.12;-1.12;-1.12;-1.12|.	3.94|3.94	3.94|3.94	0.45596|0.45596	Small GTP-binding protein domain (1);|.	0.419377|.	0.19407|.	N|.	0.115040|.	T|T	0.62708|0.62708	0.2450|0.2450	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P|.	0.41624|.	0.757|.	B|.	0.37267|.	0.245|.	T|T	0.61574|0.61574	-0.7035|-0.7035	9|5	.|.	.|.	.|.	-9.2493|-9.2493	11.3475|11.3475	0.49569|0.49569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	145|.	Q9H0T7|.	RAB17_HUMAN|.	H|M	145;18;18;123|105	ENSP00000264601:Q145H;ENSP00000443461:Q18H;ENSP00000386589:Q18H;ENSP00000400240:Q123H|.	.|.	Q|R	-|-	3|2	2|0	RAB17|RAB17	238150639|238150639	1.000000|1.000000	0.71417|0.71417	0.707000|0.707000	0.30419|0.30419	0.178000|0.178000	0.23041|0.23041	6.539000|6.539000	0.73856|0.73856	2.011000|2.011000	0.59026|0.59026	0.514000|0.514000	0.50259|0.50259	CAG|AGG		0.622	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2		Missense_Mutation	6	68	1	0	0.0215528	1	0.0221649	6	68				
BRINP3	339479	broad.mit.edu	37	1	190250845	190250845	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:190250845A>G	ENST00000367462.3	-	3	503	c.272T>C	c.(271-273)gTt>gCt	p.V91A	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	91	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCTTCTCTCAACTGCAAGGTT	0.398																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(271-273)gTt>gCt									79.0	76.0	77.0					1																	190250845		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190250845A>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.272T>C	1.37:g.190250845A>G	ENSP00000356432:p.Val91Ala					FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	p.V91A	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			3	503	-	Prostate(682;0.198)		91					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.272T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215627	0.79352	.	.	ENSG00000162670	ENST00000367462	D	0.84589	-1.87	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	N	0.03115	-0.41	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.83439	0.0042	10	0.29301	T	0.29	.	14.2271	0.65868	1.0:0.0:0.0:0.0	.	91	Q76B58	FAM5C_HUMAN	A	91	ENSP00000356432:V91A	ENSP00000356432:V91A	V	-	2	0	FAM5C	188517468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.309000	0.96252	2.248000	0.74166	0.477000	0.44152	GTT		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		11	32	0	0	0	1	0	11	32				
C21orf91	54149	broad.mit.edu	37	21	19169018	19169018	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19169018A>G	ENST00000400558.3	-	3	635	c.545T>C	c.(544-546)tTa>tCa	p.L182S	C21orf91_ENST00000493464.1_5'Flank|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Missense_Mutation_p.L182S|C21orf91_ENST00000400559.3_Missense_Mutation_p.L182S	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GTTACGACATAAAGTGGCACC	0.438																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(544-546)tTa>tCa		chromosome 21 open reading frame 91							150.0	142.0	145.0					21																	19169018		1915	4113	6028	SO:0001583	missense	54149							g.chr21:19169018A>G	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.545T>C	21.37:g.19169018A>G	ENSP00000383403:p.Leu182Ser					C21orf91_ENST00000400559.3_Missense_Mutation_p.L182S|C21orf91_ENST00000400558.3_Missense_Mutation_p.L182S|AL109761.5_ENST00000428689.1_RNA	p.L182S	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	3	635	-			182						Missense_Mutation	SNP	ENST00000400558.3	37	c.545T>C	CCDS42909.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788606	0.49997	.	.	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.17854	2.34;2.34;2.25;2.36	5.7	5.7	0.88788	.	0.368712	0.26931	N	0.021777	T	0.18215	0.0437	L	0.40543	1.245	0.80722	D	1	P;P	0.41131	0.693;0.739	B;B	0.41619	0.246;0.361	T	0.02098	-1.1214	9	.	.	.	-0.533	15.1484	0.72677	1.0:0.0:0.0:0.0	.	182;182	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	S	182	ENSP00000284881:L182S;ENSP00000383404:L182S;ENSP00000383403:L182S;ENSP00000385566:L182S	.	L	-	2	0	C21orf91	18090889	0.993000	0.37304	0.418000	0.26571	0.855000	0.48748	4.902000	0.63266	2.175000	0.68902	0.477000	0.44152	TTA		0.438	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		8	186	0	0	0	1	0	8	186				
ZXDC	79364	broad.mit.edu	37	3	126178503	126178503	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178503G>A	ENST00000389709.3	-	7	2258	c.2205C>T	c.(2203-2205)agC>agT	p.S735S		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	735					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACCTGCATTGCTCCCCGCTC	0.537																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2203-2205)agC>agT		ZXD family zinc finger C							279.0	310.0	300.0					3																	126178503		2046	4186	6232	SO:0001819	synonymous_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178503G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2205C>T	3.37:g.126178503G>A							p.S735S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2258	-			735					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	ENST00000389709.3	37	c.2205C>T	CCDS43145.1																																																																																				0.537	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		36	375	0	0	0	1	0	36	375				
ECE1	1889	broad.mit.edu	37	1	21551875	21551875	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21551875C>A	ENST00000374893.6	-	17	1982	c.1908G>T	c.(1906-1908)gaG>gaT	p.E636D	ECE1_ENST00000357071.4_Missense_Mutation_p.E624D|ECE1_ENST00000415912.2_Missense_Mutation_p.E620D|ECE1_ENST00000436918.2_Missense_Mutation_p.E636D|ECE1_ENST00000264205.6_Missense_Mutation_p.E633D	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	636					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTTGAAGGCCTCCACGGATG	0.622																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1858-1860)gaG>gaT		endothelin converting enzyme 1							134.0	112.0	119.0					1																	21551875		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21551875C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1908G>T	1.37:g.21551875C>A	ENSP00000364028:p.Glu636Asp					ECE1_ENST00000357071.4_Missense_Mutation_p.E624D|ECE1_ENST00000436918.2_Missense_Mutation_p.E636D|ECE1_ENST00000374893.6_Missense_Mutation_p.E636D|ECE1_ENST00000264205.6_Missense_Mutation_p.E633D	p.E620D	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	17	1985	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	636					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1860G>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021617	0.75275	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.36	4.44	0.53790	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.100760	0.64402	D	0.000003	D	0.89473	0.6725	L	0.41492	1.28	0.80722	D	1	B;P;B;P;P	0.44090	0.182;0.826;0.001;0.64;0.792	B;P;B;P;P	0.50352	0.173;0.638;0.021;0.53;0.53	D	0.88874	0.3335	10	0.46703	T	0.11	-25.3917	12.2188	0.54423	0.0:0.9171:0.0:0.0829	.	636;620;636;624;633	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	D	620;624;636;636;633	ENSP00000405088:E620D;ENSP00000349581:E624D;ENSP00000364028:E636D;ENSP00000388439:E636D;ENSP00000264205:E633D	ENSP00000264205:E633D	E	-	3	2	ECE1	21424462	0.996000	0.38824	1.000000	0.80357	0.966000	0.64601	0.415000	0.21181	2.500000	0.84329	0.467000	0.42956	GAG		0.622	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		4	31	1	0	0.00909568	1	0.00947522	4	31				
ALDH6A1	4329	broad.mit.edu	37	14	74538062	74538062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74538062G>A	ENST00000553458.1	-	6	664	c.566C>T	c.(565-567)gCc>gTc	p.A189V	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'Flank|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A176V|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	189					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GGGGATCATGGCAGGAAAATT	0.498																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(565-567)gCc>gTc		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						115.0	103.0	107.0					14																	74538062		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74538062G>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.566C>T	14.37:g.74538062G>A	ENSP00000450436:p.Ala189Val					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A176V|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	p.A189V	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	6	664	-			189					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.566C>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	36	5.893100	0.97074	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	T;T	0.75477	-0.94;-0.94	5.96	5.96	0.96718	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84708	0.0732	10	0.54805	T	0.06	.	20.4116	0.99017	0.0:0.0:1.0:0.0	.	176;189	B4DFS8;Q02252	.;MMSA_HUMAN	V	189;176	ENSP00000450436:A189V;ENSP00000342564:A176V	ENSP00000342564:A189V	A	-	2	0	ALDH6A1	73607815	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.987000	0.88182	2.827000	0.97445	0.655000	0.94253	GCC		0.498	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			20	28	0	0	0	1	0	20	28				
ZFHX3	463	broad.mit.edu	37	16	72832394	72832394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72832394C>T	ENST00000268489.5	-	9	4859	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R482H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1396					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACACATGGCGATCTGACAC	0.502																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4186-4188)cGc>cAc		zinc finger homeobox 3							163.0	143.0	150.0					16																	72832394		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72832394C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4187G>A	16.37:g.72832394C>T	ENSP00000268489:p.Arg1396His					ZFHX3_ENST00000397992.5_Missense_Mutation_p.R482H	p.R1396H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	4859	-		Ovarian(137;0.13)	1396					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4187G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447858	0.63178	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76186	-0.98;-1.0	5.94	5.94	0.96194	.	0.000000	0.51477	D	0.000097	D	0.82811	0.5118	M	0.66439	2.03	0.80722	D	1	D	0.56521	0.976	P	0.54460	0.753	D	0.83552	0.0102	10	0.72032	D	0.01	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	1396	Q15911	ZFHX3_HUMAN	H	1396;482	ENSP00000268489:R1396H;ENSP00000438926:R482H	ENSP00000268489:R1396H	R	-	2	0	ZFHX3	71389895	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	CGC		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		24	43	0	0	0	1	0	24	43				
JAM2	58494	broad.mit.edu	37	21	27074497	27074497	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074497T>C	ENST00000480456.1	+	6	1163	c.613T>C	c.(613-615)Tcc>Ccc	p.S205P	JAM2_ENST00000400532.1_Missense_Mutation_p.S205P|JAM2_ENST00000312957.5_Missense_Mutation_p.S205P|JAM2_ENST00000425221.2_Missense_Mutation_p.S169P	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	205	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TAATACTGTTTCCAAACTGGA	0.358																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(613-615)Tcc>Ccc		junctional adhesion molecule 2							65.0	59.0	61.0					21																	27074497		1819	4081	5900	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27074497T>C	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.613T>C	21.37:g.27074497T>C	ENSP00000420419:p.Ser205Pro					JAM2_ENST00000312957.5_Missense_Mutation_p.S205P|JAM2_ENST00000400532.1_Missense_Mutation_p.S205P|JAM2_ENST00000425221.2_Missense_Mutation_p.S169P	p.S205P	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			6	1163	+			205			Ig-like C2-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.613T>C	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008348	0.54361	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.6	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.549664	0.19452	N	0.113911	D	0.89294	0.6674	M	0.92219	3.285	0.44254	D	0.997108	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.76071	0.958;0.987;0.98;0.924;0.97	D	0.90082	0.4171	10	0.59425	D	0.04	.	9.653	0.39908	0.0:0.0:0.1754:0.8246	.	169;205;205;205;205	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	P	205;205;205;205;205;169	ENSP00000420419:S205P;ENSP00000383376:S205P;ENSP00000318416:S205P;ENSP00000392611:S169P	ENSP00000318416:S205P	S	+	1	0	JAM2	25996368	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	2.126000	0.42026	2.044000	0.60594	0.455000	0.32223	TCC		0.358	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			16	28	0	0	0	1	0	16	28				
MYO7B	4648	broad.mit.edu	37	2	128354116	128354116	+	Missense_Mutation	SNP	G	G	A	rs561780781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128354116G>A	ENST00000409816.2	+	18	2356	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R775Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.R775Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	775	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAAGTCCTTCGGGGCTACAGA	0.617																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2323-2325)cGg>cAg		myosin VIIB							45.0	51.0	49.0					2																	128354116		1921	4145	6066	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128354116G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2324G>A	2.37:g.128354116G>A	ENSP00000386461:p.Arg775Gln					MYO7B_ENST00000409816.2_Missense_Mutation_p.R775Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R775Q	p.R775Q			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	19	2377	+	Colorectal(110;0.1)		775			IQ 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2324G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292103	0.80914	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.76839	-1.05;-1.05;-1.05	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.91540	0.7328	H	0.94345	3.525	0.53688	D	0.999979	D	0.89917	1.0	D	0.75484	0.986	D	0.93775	0.7078	10	0.72032	D	0.01	.	18.2908	0.90130	0.0:0.0:1.0:0.0	.	775	Q6PIF6	MYO7B_HUMAN	Q	775	ENSP00000374175:R775Q;ENSP00000415090:R775Q;ENSP00000386461:R775Q	ENSP00000374175:R775Q	R	+	2	0	MYO7B	128070586	0.999000	0.42202	0.403000	0.26384	0.338000	0.28826	7.136000	0.77285	2.414000	0.81942	0.561000	0.74099	CGG		0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	8	0	0	0	1	0	5	8				
SQLE	6713	broad.mit.edu	37	8	126017926	126017926	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126017926A>G	ENST00000265896.5	+	3	1602	c.704A>G	c.(703-705)aAa>aGa	p.K235R	SQLE_ENST00000523430.1_Missense_Mutation_p.K140R	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	235					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGTCTCCGGAAAGCAGCTATG	0.373																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(703-705)aAa>aGa		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						72.0	69.0	70.0					8																	126017926		1853	4091	5944	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126017926A>G	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.704A>G	8.37:g.126017926A>G	ENSP00000265896:p.Lys235Arg					SQLE_ENST00000523430.1_Missense_Mutation_p.K140R	p.K235R	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1602	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		235					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.704A>G	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038178	0.35989	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000521232;ENST00000541193	T;T;T	0.41065	1.01;1.01;1.01	5.82	3.13	0.36017	.	0.167467	0.64402	D	0.000004	T	0.24928	0.0605	N	0.20357	0.565	0.31418	N	0.674717	B	0.15719	0.014	B	0.15052	0.012	T	0.19031	-1.0318	10	0.20046	T	0.44	-16.1295	9.8309	0.40941	0.7935:0.0:0.2065:0.0	.	235	Q14534	ERG1_HUMAN	R	140;235;177;40	ENSP00000430331:K140R;ENSP00000265896:K235R;ENSP00000428239:K177R	ENSP00000265896:K235R	K	+	2	0	SQLE	126087107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.203000	0.42752	1.037000	0.40024	0.459000	0.35465	AAA		0.373	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		16	24	0	0	0	1	0	16	24				
ZCCHC18	644353	broad.mit.edu	37	X	103359493	103359493	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359493C>T	ENST00000537356.3	+	2	2105	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	231							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										TAAACGGAAGCGGCCGAAAAG	0.493																																						ENST00000537356.2																			0											c.(691-693)Cgg>Tgg		zinc finger, CCHC domain containing 18							28.0	21.0	23.0					X																	103359493		692	1591	2283	SO:0001583	missense	644353						nucleic acid binding|zinc ion binding	g.chrX:103359493C>T	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.691C>T	X.37:g.103359493C>T	ENSP00000473824:p.Arg231Trp					ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	p.R231W	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN			1	691	+			231						Missense_Mutation	SNP	ENST00000537356.3	37	c.691C>T																																																																																					0.493	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		9	13	0	0	0	1	0	9	13				
RNF167	26001	broad.mit.edu	37	17	4844395	4844395	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4844395G>T	ENST00000262482.6	+	3	764	c.108G>T	c.(106-108)atG>atT	p.M36I	RNF167_ENST00000571816.1_Missense_Mutation_p.M36I|RNF167_ENST00000572430.1_Missense_Mutation_p.M36I|SLC25A11_ENST00000544061.2_5'Flank|RNF167_ENST00000575111.1_Missense_Mutation_p.M36I|RNF167_ENST00000576229.1_Start_Codon_SNP_p.M1I|RNF167_ENST00000570492.1_3'UTR|SLC25A11_ENST00000225665.7_5'Flank	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	36					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						ATGCCAGCATGGACTTTGCAG	0.552																																						ENST00000262482.6																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(106-108)atG>atT		ring finger protein 167							83.0	71.0	75.0					17																	4844395		2203	4300	6503	SO:0001583	missense	26001				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4844395G>T	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.108G>T	17.37:g.4844395G>T	ENSP00000262482:p.Met36Ile					RNF167_ENST00000572430.1_Missense_Mutation_p.M36I|RNF167_ENST00000571816.1_Missense_Mutation_p.M36I|RNF167_ENST00000575111.1_Missense_Mutation_p.M36I|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000576229.1_Start_Codon_SNP_p.M1I	p.M36I	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN			3	764	+			36					D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	c.108G>T	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139275	0.77775	.	.	ENSG00000108523	ENST00000262482	T	0.03524	3.9	5.46	5.46	0.80206	.	0.216802	0.44688	D	0.000434	T	0.07052	0.0179	L	0.57536	1.79	0.80722	D	1	D	0.57257	0.979	P	0.46275	0.51	T	0.48570	-0.9024	10	0.17369	T	0.5	-9.5565	15.1553	0.72735	0.0:0.0:1.0:0.0	.	36	Q9H6Y7	RN167_HUMAN	I	36	ENSP00000262482:M36I	ENSP00000262482:M36I	M	+	3	0	RNF167	4785140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	2.724000	0.93272	0.561000	0.74099	ATG		0.552	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		15	33	1	0	2.31682e-05	1	2.60394e-05	15	33				
FDFT1	2222	broad.mit.edu	37	8	11687765	11687765	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11687765T>C	ENST00000220584.4	+	6	937	c.715T>C	c.(715-717)Tat>Cat	p.Y239H	FDFT1_ENST00000528643.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000525900.1_Missense_Mutation_p.Y232H|FDFT1_ENST00000528812.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000525777.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000538689.1_Missense_Mutation_p.Y128H|FDFT1_ENST00000443614.2_Missense_Mutation_p.Y196H|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000530664.1_Missense_Mutation_p.Y175H	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	239					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TTGGAGCAGGTATGTTAAGAA	0.423																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(715-717)Tat>Cat		farnesyl-diphosphate farnesyltransferase 1							159.0	155.0	156.0					8																	11687765		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11687765T>C	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.715T>C	8.37:g.11687765T>C	ENSP00000220584:p.Tyr239His					FDFT1_ENST00000538689.1_Missense_Mutation_p.Y128H|FDFT1_ENST00000530664.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000525900.1_Missense_Mutation_p.Y232H|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528643.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000528812.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000443614.2_Missense_Mutation_p.Y196H|FDFT1_ENST00000525777.1_Missense_Mutation_p.Y154H	p.Y239H	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	6	937	+	all_epithelial(15;0.234)		239					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.715T>C	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844432	0.71488	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.62	5.62	0.85841	Terpenoid synthase (2);	0.062518	0.64402	D	0.000003	T	0.81983	0.4938	M	0.62016	1.91	0.80722	D	1	D;D;D;D;D	0.89917	0.984;0.999;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.743;0.985;0.998;0.996;0.996	T	0.82573	-0.0390	10	0.51188	T	0.08	-19.5955	15.2873	0.73838	0.0:0.0:0.0:1.0	.	72;196;296;232;239	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	H	128;239;196;232;175;175;154;154	ENSP00000444248:Y128H;ENSP00000220584:Y239H;ENSP00000390367:Y196H;ENSP00000434714:Y232H;ENSP00000431749:Y175H;ENSP00000432331:Y175H;ENSP00000431649:Y154H;ENSP00000436069:Y154H	ENSP00000220584:Y239H	Y	+	1	0	FDFT1	11725174	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.518000	0.81795	2.255000	0.74692	0.533000	0.62120	TAT		0.423	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			47	61	0	0	0	1	0	47	61				
DNAH8	1769	broad.mit.edu	37	6	38905866	38905866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905866G>A	ENST00000359357.3	+	76	11283	c.11029G>A	c.(11029-11031)Gct>Act	p.A3677T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3894T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A3641T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3677					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATCAACGCGGCTCAGGAGGA	0.517																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11029-11031)Gct>Act		dynein, axonemal, heavy chain 8							88.0	76.0	80.0					6																	38905866		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38905866G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11029G>A	6.37:g.38905866G>A	ENSP00000352312:p.Ala3677Thr					DNAH8_ENST00000441566.1_Missense_Mutation_p.A3641T|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3894T	p.A3677T							76	11283	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11029G>A		.	.	.	.	.	.	.	.	.	.	G	24.4	4.525875	0.85600	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.54675	0.56;0.56;0.56	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.66428	-0.5926	10	0.41790	T	0.15	.	19.561	0.95373	0.0:0.0:1.0:0.0	.	3641;3677	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	T	3882;3882;3677;3641	ENSP00000333363:A3882T;ENSP00000352312:A3677T;ENSP00000402294:A3641T	ENSP00000333363:A3882T	A	+	1	0	DNAH8	39013844	1.000000	0.71417	0.886000	0.34754	0.384000	0.30261	9.813000	0.99286	2.696000	0.92011	0.655000	0.94253	GCT		0.517	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		21	31	0	0	0	1	0	21	31				
ZNF671	79891	broad.mit.edu	37	19	58232137	58232137	+	Silent	SNP	G	G	A	rs549646483		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232137G>A	ENST00000317398.6	-	4	1412	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.H341H|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTACATTAAGGTGGGAGCTTT	0.463																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1315-1317)caC>caT		zinc finger protein 671							103.0	91.0	95.0					19																	58232137		2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232137G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1317C>T	19.37:g.58232137G>A						AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.H341H	p.H439H	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1412	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	439					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.1317C>T	CCDS12961.1																																																																																				0.463	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		27	52	0	0	0	1	0	27	52				
CNBP	7555	broad.mit.edu	37	3	128890339	128890339	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128890339C>T	ENST00000422453.2	-	3	327	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CNBP_ENST00000451728.2_Missense_Mutation_p.R56H|CNBP_ENST00000504813.1_Missense_Mutation_p.R46H|CNBP_ENST00000446936.2_Missense_Mutation_p.R49H|CNBP_ENST00000441626.2_Missense_Mutation_p.R56H|CNBP_ENST00000502976.1_Missense_Mutation_p.R49H|CNBP_ENST00000500450.2_Missense_Mutation_p.R39H	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	56					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTCACCACAGCGATAACAAAT	0.423																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(166-168)cGc>cAc		CCHC-type zinc finger, nucleic acid binding protein							113.0	103.0	106.0					3																	128890339		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890339C>T	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.167G>A	3.37:g.128890339C>T	ENSP00000410619:p.Arg56His					CNBP_ENST00000502976.1_Missense_Mutation_p.R49H|CNBP_ENST00000451728.2_Missense_Mutation_p.R56H|CNBP_ENST00000500450.2_Missense_Mutation_p.R39H|CNBP_ENST00000446936.2_Missense_Mutation_p.R49H|CNBP_ENST00000441626.2_Missense_Mutation_p.R56H|CNBP_ENST00000504813.1_Missense_Mutation_p.R46H	p.R56H	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			3	327	-			56					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.167G>A	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460368	0.84317	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626;ENST00000512338	.	.	.	5.84	5.84	0.93424	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.52011	1.625	0.80722	D	1	D;P;D	0.65815	0.99;0.955;0.995	P;P;D	0.64321	0.879;0.645;0.924	T	0.74951	-0.3489	9	0.72032	D	0.01	.	17.6404	0.88135	0.0:1.0:0.0:0.0	.	39;49;56	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	H	49;56;56;49;39;46;56;50	.	ENSP00000410619:R56H	R	-	2	0	CNBP	130373029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.127000	0.77210	2.779000	0.95612	0.591000	0.81541	CGC		0.423	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		29	37	0	0	0	1	0	29	37				
ALOX15	246	broad.mit.edu	37	17	4540418	4540418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4540418C>T	ENST00000570836.1	-	8	1039	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	ALOX15_ENST00000574640.1_Missense_Mutation_p.V276I|ALOX15_ENST00000545513.1_Missense_Mutation_p.V337I|ALOX15_ENST00000293761.3_Missense_Mutation_p.V315I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	315	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		ACCTGGATGACCATGGGCAAG	0.517																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(943-945)Gtc>Atc		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						79.0	80.0	79.0					17																	4540418		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4540418C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.943G>A	17.37:g.4540418C>T	ENSP00000458832:p.Val315Ile					ALOX15_ENST00000574640.1_Missense_Mutation_p.V276I|ALOX15_ENST00000293761.3_Missense_Mutation_p.V315I|ALOX15_ENST00000545513.1_Missense_Mutation_p.V337I	p.V315I			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	8	1039	-			315			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.943G>A	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317423	0.60524	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.08102	3.13;3.13	4.02	1.79	0.24919	Lipoxygenase, C-terminal (3);	0.354583	0.25358	N	0.031257	T	0.12860	0.0312	M	0.75264	2.295	0.31660	N	0.645642	B;B;B	0.34349	0.148;0.45;0.079	B;B;B	0.40982	0.257;0.345;0.267	T	0.04140	-1.0974	10	0.72032	D	0.01	-29.5501	5.9537	0.19261	0.1884:0.7025:0.0:0.1091	.	337;276;315	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	I	315;337	ENSP00000293761:V315I;ENSP00000439855:V337I	ENSP00000293761:V315I	V	-	1	0	ALOX15	4487167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.566000	0.53805	0.805000	0.34159	0.561000	0.74099	GTC		0.517	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			9	75	0	0	0	1	0	9	75				
TTLL6	284076	broad.mit.edu	37	17	46865317	46865317	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46865317G>T	ENST00000393382.3	-	11	1586	c.1445C>A	c.(1444-1446)aCt>aAt	p.T482N	TTLL6_ENST00000433608.2_Missense_Mutation_p.T175N	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATACGTTTCAGTTTTCTTTAA	0.483																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1444-1446)aCt>aAt		tubulin tyrosine ligase-like family, member 6							177.0	190.0	185.0					17																	46865317		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46865317G>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1445C>A	17.37:g.46865317G>T	ENSP00000377043:p.Thr482Asn					TTLL6_ENST00000433608.2_Missense_Mutation_p.T175N	p.T482N	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			11	1586	-			434						Missense_Mutation	SNP	ENST00000393382.3	37	c.1445C>A	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	8.635	0.894627	0.17613	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.38	3.35	0.38373	.	0.438058	0.19580	N	0.110895	T	0.47655	0.1457	L	0.44542	1.39	0.25658	N	0.986036	B;P;D	0.67145	0.105;0.82;0.996	B;B;D	0.63877	0.031;0.312;0.919	T	0.27839	-1.0062	9	0.17832	T	0.49	.	9.4832	0.38913	0.2346:0.0:0.7654:0.0	.	434;235;175	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	N	482;175;160;434	.	ENSP00000302547:T175N	T	-	2	0	TTLL6	44220316	1.000000	0.71417	0.914000	0.36105	0.057000	0.15508	4.159000	0.58157	1.415000	0.47037	0.555000	0.69702	ACT		0.483	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		77	131	1	0	2.1672e-28	1	2.89635e-28	77	131				
DRC7	84229	broad.mit.edu	37	16	57752284	57752284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57752284C>A	ENST00000360716.3	+	9	1324	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	CCDC135_ENST00000394337.4_Missense_Mutation_p.P368H|CCDC135_ENST00000336825.8_Missense_Mutation_p.P303H			Q8IY82	CC135_HUMAN		368					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGGGTGACCCTGTGAGATGG	0.532																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1102-1104)cCt>cAt		coiled-coil domain containing 135							244.0	215.0	225.0					16																	57752284		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57752284C>A																												ENST00000360716.3:c.1103C>A	16.37:g.57752284C>A	ENSP00000353942:p.Pro368His					CCDC135_ENST00000394337.4_Missense_Mutation_p.P368H|CCDC135_ENST00000336825.8_Missense_Mutation_p.P303H	p.P368H			Q8IY82	CC135_HUMAN			9	1324	+			368					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1103C>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	18.77	3.695755	0.68386	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11277	2.79;2.79;2.79	5.62	5.62	0.85841	.	0.332726	0.31268	N	0.007953	T	0.33673	0.0871	M	0.79475	2.455	0.37576	D	0.919604	D;D	0.71674	0.998;0.997	D;P	0.63192	0.912;0.792	T	0.12734	-1.0536	10	0.49607	T	0.09	-3.1143	18.2252	0.89915	0.0:1.0:0.0:0.0	.	303;368	Q8IY82-2;Q8IY82	.;CC135_HUMAN	H	368;303;368	ENSP00000377869:P368H;ENSP00000338938:P303H;ENSP00000353942:P368H	ENSP00000338938:P303H	P	+	2	0	CCDC135	56309785	0.943000	0.32029	0.998000	0.56505	0.618000	0.37518	3.668000	0.54554	2.633000	0.89246	0.655000	0.94253	CCT		0.532	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			55	101	1	0	6.3237e-29	1	8.45558e-29	55	101				
C17orf107	100130311	broad.mit.edu	37	17	4799865	4799865	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799865G>A	ENST00000381365.3	+	0	0				MINK1_ENST00000355280.6_Missense_Mutation_p.E1253K|C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000453408.3_Missense_Mutation_p.E1233K|MINK1_ENST00000347992.7_Missense_Mutation_p.E1224K	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						GCAGTGGGGGGAGATGCCTAC	0.637																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3757-3759)Gag>Aag		misshapen-like kinase 1							77.0	83.0	81.0					17																	4799865		2181	4275	6456	SO:0001631	upstream_gene_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4799865G>A	AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4799865G>A	Exception_encountered					MINK1_ENST00000453408.3_Missense_Mutation_p.E1233K|MINK1_ENST00000347992.7_Missense_Mutation_p.E1224K	p.E1253K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			30	3953	+			1253			CNH.|Mediates interaction with RAP2A.			Missense_Mutation	SNP	ENST00000381365.3	37	c.3757G>A	CCDS45591.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702310	0.88924	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.04862	3.54;3.54;3.54	4.58	4.58	0.56647	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.69078	0.989;0.974;0.997;0.974	D;D;D;D	0.79108	0.958;0.953;0.992;0.953	T	0.00309	-1.1828	10	0.87932	D	0	.	14.9158	0.70795	0.0:0.0:1.0:0.0	.	1216;1233;1253;1224	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	K	1253;1233;1224;213	ENSP00000347427:E1253K;ENSP00000406487:E1233K;ENSP00000269296:E1224K	ENSP00000269296:E1224K	E	+	1	0	MINK1	4740641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.601000	0.98297	2.378000	0.81104	0.561000	0.74099	GAG		0.637	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380556.1	NM_001145536		17	32	0	0	0	1	0	17	32				
MUC16	94025	broad.mit.edu	37	19	9058224	9058224	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9058224G>T	ENST00000397910.4	-	3	29425	c.29222C>A	c.(29221-29223)cCt>cAt	p.P9741H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9743	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGACACAGGAGAAAGTGA	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29221-29223)cCt>cAt		mucin 16, cell surface associated							69.0	66.0	67.0					19																	9058224		1974	4153	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058224G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29222C>A	19.37:g.9058224G>T	ENSP00000381008:p.Pro9741His						p.P9741H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29425	-			9743			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29222C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.696	0.129340	0.08981	.	.	ENSG00000181143	ENST00000397910	T	0.23950	1.88	2.63	1.58	0.23477	.	.	.	.	.	T	0.26774	0.0655	N	0.24115	0.695	.	.	.	D	0.67145	0.996	P	0.59012	0.85	T	0.31558	-0.9939	8	0.87932	D	0	.	5.5864	0.17277	0.157:0.0:0.843:0.0	.	9741	B5ME49	.	H	9741	ENSP00000381008:P9741H	ENSP00000381008:P9741H	P	-	2	0	MUC16	8919224	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.997000	0.03705	0.660000	0.30964	0.585000	0.79938	CCT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	29	1	0	1.024e-07	1	1.214e-07	4	29				
PNPLA5	150379	broad.mit.edu	37	22	44277523	44277523	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44277523C>A	ENST00000597664.1	-	8	1243	c.1114G>T	c.(1114-1116)Gac>Tac	p.D372Y	PNPLA5_ENST00000381198.2_Missense_Mutation_p.D258Y|PNPLA5_ENST00000593866.1_Missense_Mutation_p.D258Y|PNPLA5_ENST00000216177.4_Missense_Mutation_p.D372Y			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	372					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CACCACAAGTCCGCCGGCACA	0.662																																						ENST00000216177.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16						c.(1114-1116)Gac>Tac		patatin-like phospholipase domain containing 5							41.0	35.0	37.0					22																	44277523		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44277523C>A	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.1114G>T	22.37:g.44277523C>A	ENSP00000471069:p.Asp372Tyr					PNPLA5_ENST00000381198.2_Missense_Mutation_p.D258Y|PNPLA5_ENST00000593866.1_Missense_Mutation_p.D258Y|PNPLA5_ENST00000597664.1_Missense_Mutation_p.D372Y	p.D372Y	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN			8	1246	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	372					B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.1114G>T		.	.	.	.	.	.	.	.	.	.	C	16.98	3.271845	0.59649	.	.	ENSG00000100341	ENST00000216177;ENST00000381198	T;T	0.64803	0.5;-0.12	3.76	3.76	0.43208	.	0.098857	0.37437	N	0.002092	T	0.80534	0.4641	M	0.87381	2.88	0.40145	D	0.976885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.84885	0.0833	10	0.87932	D	0	-46.9536	13.8758	0.63651	0.0:1.0:0.0:0.0	.	280;258;372	E9PGS4;Q7Z6Z6-2;Q7Z6Z6	.;.;PLPL5_HUMAN	Y	372;258	ENSP00000216177:D372Y;ENSP00000370595:D258Y	ENSP00000216177:D372Y	D	-	1	0	PNPLA5	42608856	0.913000	0.31002	0.067000	0.19924	0.060000	0.15804	2.705000	0.47127	2.375000	0.81037	0.467000	0.42956	GAC		0.662	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		5	5	1	0	1.23904e-05	1	1.39987e-05	5	5				
CCDC82	79780	broad.mit.edu	37	11	96106557	96106557	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96106557A>C	ENST00000278520.5	-	5	1494	c.1066T>G	c.(1066-1068)Ttt>Gtt	p.F356V	CCDC82_ENST00000423339.2_Missense_Mutation_p.F356V|CCDC82_ENST00000542662.1_Missense_Mutation_p.F356V			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	356										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTCCCAGAAAAGATTCATCT	0.269																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1066-1068)Ttt>Gtt		coiled-coil domain containing 82							52.0	58.0	56.0					11																	96106557		2199	4288	6487	SO:0001583	missense	79780						protein binding	g.chr11:96106557A>C	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1066T>G	11.37:g.96106557A>C	ENSP00000278520:p.Phe356Val					CCDC82_ENST00000542662.1_Missense_Mutation_p.F356V|CCDC82_ENST00000423339.2_Missense_Mutation_p.F356V	p.F356V			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	5	1494	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	356					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1066T>G	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097400	0.76870	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.57107	0.42;0.42;0.42	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.74047	-0.3790	10	0.72032	D	0.01	-20.7672	16.2666	0.82588	1.0:0.0:0.0:0.0	.	356	Q8N4S0	CCD82_HUMAN	V	356	ENSP00000278520:F356V;ENSP00000444010:F356V;ENSP00000397156:F356V	ENSP00000278520:F356V	F	-	1	0	CCDC82	95746205	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	6.050000	0.71063	2.320000	0.78422	0.528000	0.53228	TTT		0.269	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		46	41	0	0	0	1	0	46	41				
ZMYND10	51364	broad.mit.edu	37	3	50381223	50381223	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50381223G>T	ENST00000231749.3	-	3	1532	c.260C>A	c.(259-261)cCt>cAt	p.P87H	RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.P87H|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	87					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGAACACAGGGAACACCTT	0.557										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(259-261)cCt>cAt		zinc finger, MYND-type containing 10							170.0	132.0	145.0					3																	50381223		2203	4300	6503	SO:0001583	missense	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50381223G>T	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.260C>A	3.37:g.50381223G>T	ENSP00000231749:p.Pro87His	TSP Lung(30;0.18)				ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.P87H	p.P87H	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1532	-			87					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	c.260C>A	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996206	0.74703	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.30981	1.51;1.51;1.51	5.41	5.41	0.78517	.	0.147728	0.64402	D	0.000006	T	0.52338	0.1728	M	0.72576	2.205	0.80722	D	1	P;P	0.52842	0.956;0.863	P;B	0.56751	0.805;0.357	T	0.54309	-0.8313	10	0.62326	D	0.03	-10.9262	19.2064	0.93732	0.0:0.0:1.0:0.0	.	87;87	O75800-2;O75800	.;ZMY10_HUMAN	H	87;87;44	ENSP00000231749:P87H;ENSP00000353289:P87H;ENSP00000393687:P44H	ENSP00000231749:P87H	P	-	2	0	ZMYND10	50356227	1.000000	0.71417	0.993000	0.49108	0.642000	0.38348	9.467000	0.97671	2.542000	0.85734	0.555000	0.69702	CCT		0.557	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		13	72	1	0	5.50884e-06	1	6.28354e-06	13	72				
TDRD1	56165	broad.mit.edu	37	10	115985936	115985936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115985936C>A	ENST00000369280.1	+	22	3596	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	TDRD1_ENST00000251864.2_Missense_Mutation_p.L1046M|TDRD1_ENST00000422662.1_Missense_Mutation_p.L650M|TDRD1_ENST00000369282.1_Missense_Mutation_p.L1046M|TDRD1_ENST00000369281.2_Missense_Mutation_p.L932M			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1046	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCTAGCCACCTGGCGCTTCC	0.423																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3136-3138)Ctg>Atg		tudor domain containing 1							90.0	83.0	85.0					10																	115985936		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115985936C>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3136C>A	10.37:g.115985936C>A	ENSP00000358286:p.Leu1046Met					TDRD1_ENST00000369282.1_Missense_Mutation_p.L1046M|TDRD1_ENST00000369281.2_Missense_Mutation_p.L932M|TDRD1_ENST00000369280.1_Missense_Mutation_p.L1046M|TDRD1_ENST00000422662.1_Missense_Mutation_p.L650M	p.L1046M	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	22	3289	+		Colorectal(252;0.172)|Breast(234;0.188)	1046			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.3136C>A		.	.	.	.	.	.	.	.	.	.	C	16.01	3.002703	0.54254	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	6.01	-0.0959	0.13639	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.215770	0.36703	N	0.002459	T	0.27765	0.0683	M	0.73430	2.235	0.42295	D	0.992153	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	T	0.01326	-1.1384	10	0.56958	D	0.05	-10.0464	10.4642	0.44598	0.0:0.4432:0.0:0.5568	.	650;1046;932;1046;932	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	M	1046;1046;932;650;1046	ENSP00000358288:L1046M;ENSP00000251864:L1046M;ENSP00000358287:L932M;ENSP00000402794:L650M;ENSP00000358286:L1046M	ENSP00000251864:L1046M	L	+	1	2	TDRD1	115975926	0.804000	0.28969	0.995000	0.50966	0.759000	0.43091	0.377000	0.20552	-0.037000	0.13646	-0.142000	0.14014	CTG		0.423	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			4	44	1	0	0.00024832	1	0.0002712	4	44				
PRX	57716	broad.mit.edu	37	19	40902826	40902826	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902826A>G	ENST00000324001.7	-	7	1703	c.1433T>C	c.(1432-1434)cTc>cCc	p.L478P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	478	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTTTGGGAGTTTCATCTC	0.582																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1432-1434)cTc>cCc		periaxin							82.0	95.0	90.0					19																	40902826		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902826A>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1433T>C	19.37:g.40902826A>G	ENSP00000326018:p.Leu478Pro					PRX_ENST00000291825.7_3'UTR	p.L478P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1703	-			478			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1433T>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	A	8.993	0.978294	0.18812	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02525	4.26	3.85	3.85	0.44370	.	0.000000	0.43110	D	0.000601	T	0.13030	0.0316	M	0.78916	2.43	0.19575	N	0.999961	D	0.76494	0.999	D	0.83275	0.996	T	0.03086	-1.1074	10	0.35671	T	0.21	-23.3512	11.736	0.51765	1.0:0.0:0.0:0.0	.	478	Q9BXM0	PRAX_HUMAN	P	478	ENSP00000326018:L478P	ENSP00000326018:L478P	L	-	2	0	PRX	45594666	.	.	0.565000	0.28409	0.338000	0.28826	.	.	1.617000	0.50277	0.379000	0.24179	CTC		0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		11	141	0	0	0	1	0	11	141				
SENP6	26054	broad.mit.edu	37	6	76412676	76412676	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76412676G>A	ENST00000447266.2	+	19	3082	c.2604G>A	c.(2602-2604)gcG>gcA	p.A868A	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Silent_p.A861A|SENP6_ENST00000370014.3_Silent_p.A868A	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	868	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCATACTGCGAGTGAAAATG	0.358																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2602-2604)gcG>gcA		SUMO1/sentrin specific peptidase 6							134.0	134.0	134.0					6																	76412676		1836	4090	5926	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412676G>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2604G>A	6.37:g.76412676G>A						SENP6_ENST00000447266.2_Silent_p.A868A|SENP6_ENST00000370010.2_Silent_p.A861A|SENP6_ENST00000541192.1_Intron	p.A868A	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	3223	+		all_hematologic(105;0.189)	868			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.2604G>A	CCDS47454.1																																																																																				0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		66	88	0	0	0	1	0	66	88				
ZFHX4	79776	broad.mit.edu	37	8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458										HNSCC(33;0.089)																												ENST00000521891.2																			2	Substitution - Missense(2)	p.R1983H(2)	lung(1)|pancreas(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5947-5949)cGt>cAt		zinc finger homeobox 4							53.0	53.0	53.0					8																	77765105		1889	4117	6006	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765105G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5948G>A	8.37:g.77765105G>A	ENSP00000430497:p.Arg1983His	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	p.R1983H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6396	+			1938			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5948G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423068	0.43020	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.78;0.74;0.74	4.2	4.2	0.49525	.	0.000000	0.44483	U	0.000460	T	0.49966	0.1588	M	0.62723	1.935	0.43271	D	0.995226	P;P;P	0.46020	0.796;0.871;0.871	B;B;B	0.42361	0.215;0.385;0.385	T	0.60747	-0.7202	10	0.66056	D	0.02	.	17.142	0.86756	0.0:0.0:1.0:0.0	.	1938;1938;1983	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1983;1983;1938;1938;1957	ENSP00000430497:R1983H;ENSP00000399605:R1938H;ENSP00000050961:R1938H;ENSP00000430848:R1957H	ENSP00000050961:R1938H	R	+	2	0	ZFHX4	77927660	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.860000	0.69546	2.365000	0.80145	0.539000	0.68188	CGT		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	18	0	0	0	1	0	13	18				
RASAL1	8437	broad.mit.edu	37	12	113553534	113553534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113553534C>A	ENST00000261729.5	-	11	1224	c.909G>T	c.(907-909)caG>caT	p.Q303H	RASAL1_ENST00000548055.1_Missense_Mutation_p.Q303H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q303H|RASAL1_ENST00000546530.1_Missense_Mutation_p.Q303H			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	303	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCAAGGTCCTGGCGGCAGT	0.637																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(907-909)caG>caT		RAS protein activator like 1 (GAP1 like)							58.0	63.0	62.0					12																	113553534		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553534C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.909G>T	12.37:g.113553534C>A	ENSP00000261729:p.Gln303His					RASAL1_ENST00000548055.1_Missense_Mutation_p.Q303H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q303H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q303H	p.Q303H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			11	1194	-			303			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.909G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485009	0.63962	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.46	2.62	0.31277	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.118512	0.64402	D	0.000019	T	0.38532	0.1044	M	0.84683	2.71	0.38584	D	0.950263	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.79784	0.979;0.962;0.991;0.979;0.993;0.971;0.991	T	0.19712	-1.0297	10	0.59425	D	0.04	.	4.5926	0.12315	0.0:0.5266:0.154:0.3193	.	303;303;303;315;303;303;303	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	H	303	ENSP00000450244:Q303H;ENSP00000261729:Q303H;ENSP00000395920:Q303H;ENSP00000448510:Q303H	ENSP00000261729:Q303H	Q	-	3	2	RASAL1	112037917	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	1.383000	0.34385	0.260000	0.21731	-0.339000	0.08088	CAG		0.637	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		11	43	1	0	4.3838e-07	1	5.12524e-07	11	43				
DUOX1	53905	broad.mit.edu	37	15	45454097	45454097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45454097G>T	ENST00000321429.4	+	31	4425	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	DUOX1_ENST00000389037.3_Missense_Mutation_p.G1340W|DUOX1_ENST00000561166.1_Missense_Mutation_p.G986W|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1340	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGGGCAGCAGGGCCCTGGAC	0.632																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4018-4020)Ggg>Tgg		dual oxidase 1							69.0	61.0	64.0					15																	45454097		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45454097G>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4018G>T	15.37:g.45454097G>T	ENSP00000317997:p.Gly1340Trp					CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1340W|DUOX1_ENST00000561166.1_Missense_Mutation_p.G986W	p.G1340W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	31	4425	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1340			FAD-binding FR-type.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4018G>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224987	0.79576	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.26373	1.74;1.74	4.22	4.22	0.49857	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78760	-0.2078	10	0.87932	D	0	-31.3357	14.4433	0.67333	0.0:0.0:1.0:0.0	.	1340	Q9NRD9	DUOX1_HUMAN	W	1340	ENSP00000317997:G1340W;ENSP00000373689:G1340W	ENSP00000317997:G1340W	G	+	1	0	DUOX1	43241389	1.000000	0.71417	0.955000	0.39395	0.906000	0.53458	9.625000	0.98406	2.345000	0.79718	0.555000	0.69702	GGG		0.632	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		6	18	1	0	0.0215528	1	0.0221649	6	18				
ERBB2	2064	broad.mit.edu	37	17	37865570	37865570	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37865570G>T	ENST00000269571.5	+	4	598		c.e4-1		ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000406381.2_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000578199.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000540042.1_Splice_Site|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2						axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TCACCCCACAGAGATCTTGAA	0.537		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.e6-1		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						138.0	131.0	133.0					17																	37865570		2203	4300	6503	SO:0001630	splice_region_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37865570G>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.440-1G>T	17.37:g.37865570G>T		TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000269571.5_Splice_Site|ERBB2_ENST00000578199.1_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000540042.1_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site		NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	6	859	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)						B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Splice_Site	SNP	ENST00000269571.5	37		CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322790	0.81580	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2067	0.93734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2	35119096	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.705000	0.91357	2.873000	0.98535	0.561000	0.74099	.		0.537	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		Intron	6	109	1	0	3.59834e-05	1	4.01776e-05	6	109				
ASCC3	10973	broad.mit.edu	37	6	101086606	101086606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101086606C>A	ENST00000369162.2	-	25	4337	c.3993G>T	c.(3991-3993)caG>caT	p.Q1331H		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1331					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATTTGTGTCTGTACAGGGT	0.408																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(3991-3993)caG>caT		activating signal cointegrator 1 complex subunit 3							169.0	158.0	162.0					6																	101086606		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101086606C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3993G>T	6.37:g.101086606C>A	ENSP00000358159:p.Gln1331His						p.Q1331H	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	25	4337	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1331					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.3993G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233625	0.79688	.	.	ENSG00000112249	ENST00000369162	D	0.88509	-2.39	5.39	3.6	0.41247	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95641	0.8698	10	0.87932	D	0	.	12.2317	0.54492	0.0:0.8591:0.0:0.1409	.	1331	Q8N3C0	HELC1_HUMAN	H	1331	ENSP00000358159:Q1331H	ENSP00000358159:Q1331H	Q	-	3	2	ASCC3	101193327	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.081000	0.57627	1.294000	0.44707	0.557000	0.71058	CAG		0.408	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		8	178	1	0	1.12685e-05	1	1.27857e-05	8	178				
SLC5A8	160728	broad.mit.edu	37	12	101588872	101588872	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101588872C>A	ENST00000536262.2	-	4	1096		c.e4+1			NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGGACGTACCAGTGTGCAG	0.428																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e4+1		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							100.0	86.0	91.0					12																	101588872		2203	4300	6503	SO:0001630	splice_region_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101588872C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.537+1G>T	12.37:g.101588872C>A								NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			4	1096	-									Splice_Site	SNP	ENST00000536262.2	37		CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194429	0.78902	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4522	0.94872	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC5A8	100113003	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.370000	0.79589	2.599000	0.87857	0.585000	0.79938	.		0.428	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	Intron	10	9	1	0	0.00829132	1	0.00869385	10	9				
DNHD1	144132	broad.mit.edu	37	11	6541014	6541014	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541014A>G	ENST00000527990.2	+	6	1577	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	DNHD1_ENST00000354685.3_Missense_Mutation_p.Y526C|DNHD1_ENST00000254579.6_Missense_Mutation_p.Y526C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	526					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGTTGACTACATGATTTGT	0.517																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1576-1578)tAc>tGc		dynein heavy chain domain 1							125.0	114.0	118.0					11																	6541014		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541014A>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1577A>G	11.37:g.6541014A>G	ENSP00000436180:p.Tyr526Cys					DNHD1_ENST00000354685.3_Missense_Mutation_p.Y526C|DNHD1_ENST00000527990.2_Missense_Mutation_p.Y526C	p.Y526C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	8	2141	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	526					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1577A>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.030397	0.54790	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.30714	1.52;2.52;1.52	5.71	4.52	0.55395	.	0.240806	0.29838	N	0.011069	T	0.36413	0.0966	L	0.29908	0.895	0.30159	N	0.802332	D;D	0.76494	0.999;0.996	D;P	0.64042	0.921;0.855	T	0.19095	-1.0316	10	0.46703	T	0.11	.	8.3821	0.32477	0.8257:0.0:0.0:0.1743	.	526;526	Q96M86;Q96M86-4	DNHD1_HUMAN;.	C	526	ENSP00000254579:Y526C;ENSP00000346716:Y526C;ENSP00000436180:Y526C	ENSP00000254579:Y526C	Y	+	2	0	DNHD1	6497590	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.268000	0.33062	2.177000	0.69029	0.460000	0.39030	TAC		0.517	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		34	42	0	0	0	1	0	34	42				
IQGAP1	8826	broad.mit.edu	37	15	90934099	90934099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90934099C>T	ENST00000268182.5	+	2	273	c.149C>T	c.(148-150)gCg>gTg	p.A50V	RP11-154B12.3_ENST00000560578.1_RNA|IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	50	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGGAAGAAGCGAAGAGGTAA	0.423																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(148-150)gCg>gTg		IQ motif containing GTPase activating protein 1							164.0	148.0	154.0					15																	90934099		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90934099C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.149C>T	15.37:g.90934099C>T	ENSP00000268182:p.Ala50Val					IQGAP1_ENST00000560738.1_Intron	p.A50V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		2	273	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		50			CH.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.149C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331286	0.95733	.	.	ENSG00000140575	ENST00000268182	D	0.94862	-3.54	4.73	4.73	0.59995	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95871	0.8891	10	0.51188	T	0.08	-11.271	15.2382	0.73447	0.0:1.0:0.0:0.0	.	50	P46940	IQGA1_HUMAN	V	50	ENSP00000268182:A50V	ENSP00000268182:A50V	A	+	2	0	IQGAP1	88735103	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.238000	0.78173	2.460000	0.83146	0.462000	0.41574	GCG		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		26	45	0	0	0	1	0	26	45				
TASP1	55617	broad.mit.edu	37	20	13514789	13514789	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13514789C>T	ENST00000337743.4	-	9	796		c.e9-1		TASP1_ENST00000480436.1_Splice_Site|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1						positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGTCATTTTCCTGCAGAGCAA	0.478																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.e9-1		taspase, threonine aspartase, 1							155.0	131.0	139.0					20																	13514789		2203	4300	6503	SO:0001630	splice_region_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13514789C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.676-1G>A	20.37:g.13514789C>T						TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_Splice_Site		NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			9	796	-								B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Splice_Site	SNP	ENST00000337743.4	37		CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582246	0.86748	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TASP1	13462789	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	6.841000	0.75374	2.734000	0.93682	0.655000	0.94253	.		0.478	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	Intron	9	64	0	0	0	1	0	9	64				
OSBPL6	114880	broad.mit.edu	37	2	179247887	179247887	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179247887C>A	ENST00000190611.4	+	17	2134	c.1758C>A	c.(1756-1758)gtC>gtA	p.V586V	OSBPL6_ENST00000392505.2_Silent_p.V611V|OSBPL6_ENST00000359685.3_Silent_p.V550V|OSBPL6_ENST00000409631.1_Silent_p.V550V|OSBPL6_ENST00000315022.2_Silent_p.V590V|OSBPL6_ENST00000409045.3_Silent_p.V555V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	586					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGTCTAAAGTCTCTATGCCTG	0.507																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1756-1758)gtC>gtA		oxysterol binding protein-like 6							78.0	79.0	79.0					2																	179247887		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179247887C>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1758C>A	2.37:g.179247887C>A						OSBPL6_ENST00000315022.2_Silent_p.V590V|OSBPL6_ENST00000409045.3_Silent_p.V555V|OSBPL6_ENST00000392505.2_Silent_p.V611V|OSBPL6_ENST00000409631.1_Silent_p.V550V|OSBPL6_ENST00000359685.3_Silent_p.V550V	p.V586V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		17	2134	+			586					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.1758C>A	CCDS2277.1																																																																																				0.507	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		4	30	1	0	0.00909568	1	0.00947522	4	30				
RBMXL1	494115	broad.mit.edu	37	1	89448756	89448756	+	Missense_Mutation	SNP	G	G	A	rs374309282		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448756G>A	ENST00000321792.5	-	2	1181	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R252C	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	252					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TAGTCATCACGTGAACTGGAA	0.433																																						ENST00000399794.2																			0											c.(754-756)Cgt>Tgt		RNA binding motif protein, X-linked-like 1		G	,,CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	185.0	162.0	169.0		,,754,754	0.8	1.0	1		169	0,8600		0,0,4300	no	intron,intron,missense,missense	CCBL2,RBMXL1	NM_001008661.2,NM_001008662.2,NM_001162536.2,NM_019610.5	,,180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,probably-damaging,probably-damaging	,,252/391,252/391	89448756	2,13004	2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448756G>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.754C>T	1.37:g.89448756G>A	ENSP00000318415:p.Arg252Cys					CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R252C|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	p.R252C	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1469	-			252						Missense_Mutation	SNP	ENST00000321792.5	37	c.754C>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834944	0.50951	4.54E-4	0.0	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76709	-1.04;-1.04	1.76	0.778	0.18543	.	0.063219	0.64402	D	0.000006	T	0.75910	0.3914	M	0.72894	2.215	0.50632	D	0.999881	D	0.89917	1.0	D	0.63192	0.912	T	0.75271	-0.3376	10	0.87932	D	0	.	5.6945	0.17847	0.1941:0.0:0.8059:0.0	.	252	Q96E39	RBMXL_HUMAN	C	252	ENSP00000318415:R252C;ENSP00000446099:R252C	ENSP00000318415:R252C	R	-	1	0	RBMXL1	89221344	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	2.201000	0.42734	0.084000	0.17077	0.306000	0.20318	CGT		0.433	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		133	74	0	0	0	1	0	133	74				
SLC35F2	54733	broad.mit.edu	37	11	107677491	107677491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107677491C>A	ENST00000525815.1	-	4	946	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SLC35F2_ENST00000375682.4_Nonsense_Mutation_p.G129*|SLC35F2_ENST00000429869.1_Nonsense_Mutation_p.G176*|SLC35F2_ENST00000265836.7_Nonsense_Mutation_p.G28*|SLC35F2_ENST00000525071.1_Nonsense_Mutation_p.G176*	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	176					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACCATGGTTCCTACACCCAAC	0.458																																						ENST00000525071.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(526-528)Gga>Tga		solute carrier family 35, member F2							124.0	127.0	126.0					11																	107677491		2018	4176	6194	SO:0001587	stop_gained	54733				transport	integral to membrane		g.chr11:107677491C>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.526G>T	11.37:g.107677491C>A	ENSP00000436785:p.Gly176*					SLC35F2_ENST00000375682.4_Nonsense_Mutation_p.G129*|SLC35F2_ENST00000265836.7_Nonsense_Mutation_p.G28*|SLC35F2_ENST00000525815.1_Nonsense_Mutation_p.G176*|SLC35F2_ENST00000429869.1_Nonsense_Mutation_p.G176*	p.G176*			Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	7	1114	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	176					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Nonsense_Mutation	SNP	ENST00000525815.1	37	c.526G>T	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291170	0.80914	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.0192	0.89250	0.0:1.0:0.0:0.0	.	.	.	.	X	176;176;28;129;176	.	ENSP00000265836:G28X	G	-	1	0	SLC35F2	107182701	1.000000	0.71417	0.939000	0.37840	0.928000	0.56348	5.559000	0.67326	2.245000	0.73994	0.655000	0.94253	GGA		0.458	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		27	40	1	0	2.12542e-12	1	2.67336e-12	27	40				
TTBK2	146057	broad.mit.edu	37	15	43067672	43067672	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067672C>A	ENST00000267890.6	-	13	1767	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	553					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTCCACAATCACCCATTCTT	0.468																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1657-1659)gtG>gtT		tau tubulin kinase 2							99.0	93.0	95.0					15																	43067672		1935	4133	6068	SO:0001819	synonymous_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067672C>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1659G>T	15.37:g.43067672C>A							p.V553V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	13	1767	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	553					O94932|Q6ZN52|Q8IVV1	Silent	SNP	ENST00000267890.6	37	c.1659G>T	CCDS42029.1																																																																																				0.468	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		29	50	1	0	1.68575e-08	1	2.02034e-08	29	50				
USP21	27005	broad.mit.edu	37	1	161130759	161130759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161130759G>A	ENST00000289865.8	+	2	550	c.329G>A	c.(328-330)cGt>cAt	p.R110H	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R110H|USP21_ENST00000368001.1_Missense_Mutation_p.R110H	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	110					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACTTAGCCCGTTCCAAGTCT	0.642																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(328-330)cGt>cAt		ubiquitin specific peptidase 21							88.0	81.0	84.0					1																	161130759		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130759G>A	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.329G>A	1.37:g.161130759G>A	ENSP00000289865:p.Arg110His					USP21_ENST00000368001.1_Missense_Mutation_p.R110H|USP21_ENST00000289865.8_Missense_Mutation_p.R110H	p.R110H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	706	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		110					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.329G>A	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402430	0.62288	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45668	0.89;0.89;0.89	5.01	4.09	0.47781	.	1.225870	0.05768	N	0.606234	T	0.26774	0.0655	N	0.19112	0.55	0.24440	N	0.994539	D	0.65815	0.995	P	0.50082	0.63	T	0.47522	-0.9111	10	0.72032	D	0.01	.	14.5234	0.67870	0.0:0.1477:0.8523:0.0	.	110	Q9UK80	UBP21_HUMAN	H	110	ENSP00000356981:R110H;ENSP00000289865:R110H;ENSP00000356980:R110H	ENSP00000289865:R110H	R	+	2	0	USP21	159397383	1.000000	0.71417	0.700000	0.30305	0.907000	0.53573	5.678000	0.68153	1.323000	0.45263	0.462000	0.41574	CGT		0.642	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			22	27	0	0	0	1	0	22	27				
POLA1	5422	broad.mit.edu	37	X	24859935	24859935	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24859935C>A	ENST00000379059.3	+	33	3900	c.3885C>A	c.(3883-3885)gtC>gtA	p.V1295V	POLA1_ENST00000379068.3_Silent_p.V1301V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1295	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATGATAATGTCTTTGATGGTT	0.423																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3901-3903)gtC>gtA		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						251.0	222.0	232.0					X																	24859935		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24859935C>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3885C>A	X.37:g.24859935C>A						POLA1_ENST00000379059.3_Silent_p.V1295V	p.V1301V			P09884	DPOLA_HUMAN			33	3946	+			1295					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.3903C>A	CCDS14214.1																																																																																				0.423	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		13	96	1	0	0.0135373	1	0.0140872	13	96				
N4BP1	9683	broad.mit.edu	37	16	48594665	48594665	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48594665G>A	ENST00000262384.3	-	2	2125	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	630					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATGGACTTACGTAATTGCAAC	0.343																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.e2+1		NEDD4 binding protein 1							115.0	111.0	112.0					16																	48594665		1831	4085	5916	SO:0001630	splice_region_variant	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48594665G>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1889+1C>T	16.37:g.48594665G>A						RP11-44I10.3_ENST00000563994.1_RNA	p.T630_splice	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	2125	-		all_cancers(37;0.179)|all_lung(18;0.11)	630					A7MD49|Q2YDX1	Splice_Site	SNP	ENST00000262384.3	37	c.1889_splice	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559919	0.45590	.	.	ENSG00000102921	ENST00000262384	T	0.42513	0.97	5.93	3.94	0.45596	Ribonuclease Zc3h12a-like (1);	0.323532	0.37393	N	0.002106	T	0.21801	0.0525	N	0.03608	-0.345	0.39331	D	0.965423	P	0.42409	0.779	B	0.39094	0.29	T	0.05818	-1.0862	9	.	.	.	-10.9062	16.1815	0.81909	0.0:0.3778:0.6222:0.0	.	630	O75113	N4BP1_HUMAN	I	630	ENSP00000262384:T630I	.	T	-	2	0	N4BP1	47152166	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.667000	0.68067	0.821000	0.34540	0.591000	0.81541	ACC		0.343	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	Missense_Mutation	49	87	0	0	0	1	0	49	87				
TRDC	28526	broad.mit.edu	37	14	22935286	22935286	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22935286G>A	ENST00000390477.2	+	0	720				TRDV3_ENST00000535880.2_RNA|AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											gatttaacatgcatgaattag	0.383																																						ENST00000514473.2																			0																				73.0	76.0	75.0					14																	22935286		1849	4100	5949			0							g.chr14:22935286G>A	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22935286G>A						AE000661.37_ENST00000556777.1_RNA								0	225	-									RNA	SNP	ENST00000390477.2	37																																																																																						0.383	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		8	66	0	0	0	1	0	8	66				
MED13L	23389	broad.mit.edu	37	12	116413113	116413113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413113C>T	ENST00000281928.3	-	25	5800	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1865						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTACTCCTCCGTGACCTAAC	0.403																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5593-5595)cGg>cAg		mediator complex subunit 13-like							75.0	70.0	72.0					12																	116413113		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413113C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5594G>A	12.37:g.116413113C>T	ENSP00000281928:p.Arg1865Gln						p.R1865Q	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	25	5800	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1865					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5594G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561604	0.96527	.	.	ENSG00000123066	ENST00000281928	D	0.83591	-1.74	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.89298	0.6675	M	0.83953	2.67	0.58432	D	0.999999	D	0.69078	0.997	P	0.55545	0.778	D	0.90033	0.4136	10	0.66056	D	0.02	.	14.7159	0.69269	0.0:0.931:0.0:0.069	.	1865	Q71F56	MD13L_HUMAN	Q	1865	ENSP00000281928:R1865Q	ENSP00000281928:R1865Q	R	-	2	0	MED13L	114897496	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.728000	0.68531	2.941000	0.99782	0.655000	0.94253	CGG		0.403	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			5	51	0	0	0	1	0	5	51				
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160237602C>T	ENST00000610273.1	+	14	1226	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468																																						ENST00000275275.5																			3	Substitution - Missense(3)	p.A352E(2)|p.A352V(1)	lung(3)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1054-1056)gCg>gTg		poly(A)-specific ribonuclease (PARN)-like domain containing 1							140.0	137.0	138.0					6																	160237602		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160237602C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1055C>T	6.37:g.160237602C>T	ENSP00000476448:p.Ala352Val					PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363V	p.A352V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	14	1226	+		Breast(66;0.00519)|Ovarian(120;0.123)	352					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1055C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729123	0.48833	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.22743	1.94;1.94	5.61	4.72	0.59763	Ribonuclease H-like (1);	0.087082	0.49916	D	0.000134	T	0.24353	0.0590	M	0.63843	1.955	0.23325	N	0.9979	D;D	0.69078	0.996;0.997	P;P	0.56960	0.786;0.81	T	0.06250	-1.0837	10	0.62326	D	0.03	.	14.5927	0.68378	0.0:0.7243:0.2757:0.0	.	363;352	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	352;363	ENSP00000275275:A352V;ENSP00000376007:A363V	ENSP00000275275:A352V	A	+	2	0	PNLDC1	160157592	0.751000	0.28327	0.000000	0.03702	0.377000	0.30045	1.241000	0.32743	1.335000	0.45486	0.555000	0.69702	GCG		0.468	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		31	54	0	0	0	1	0	31	54				
PRPF39	55015	broad.mit.edu	37	14	45571854	45571854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45571854G>A	ENST00000355765.6	+	5	862	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	231					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATATGATCGTATTCTTGGT	0.388																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(691-693)cGt>cAt		pre-mRNA processing factor 39							178.0	191.0	186.0					14																	45571854		2203	4300	6503	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45571854G>A	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.692G>A	14.37:g.45571854G>A	ENSP00000348010:p.Arg231His						p.R231H	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			5	862	+			231					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.692G>A	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763626	0.89932	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.42513	0.97	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71651	0.3365	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.983;0.988	T	0.77294	-0.2641	10	0.87932	D	0	-10.4995	19.0235	0.92923	0.0:0.0:1.0:0.0	.	231;110	Q86UA1;F5H1P0	PRP39_HUMAN;.	H	231;110	ENSP00000348010:R231H	ENSP00000348010:R231H	R	+	2	0	PRPF39	44641604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.612000	0.88384	0.650000	0.86243	CGT		0.388	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			82	107	0	0	0	1	0	82	107				
TRIO	7204	broad.mit.edu	37	5	14462920	14462920	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14462920G>T	ENST00000344204.4	+	36	5577	c.5553G>T	c.(5551-5553)ggG>ggT	p.G1851G	TRIO_ENST00000537187.1_Silent_p.G1851G|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1851					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTCCTCGGGGATGCAGAGCT	0.612																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(5551-5553)ggG>ggT		trio Rho guanine nucleotide exchange factor							68.0	78.0	75.0					5																	14462920		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14462920G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5553G>T	5.37:g.14462920G>T						TRIO_ENST00000537187.1_Silent_p.G1851G|TRIO_ENST00000515710.1_3'UTR	p.G1851G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			36	5577	+	Lung NSC(4;0.000742)		1851					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.5553G>T	CCDS3883.1																																																																																				0.612	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		7	98	1	0	5.18039e-06	1	5.91835e-06	7	98				
MYH7	4625	broad.mit.edu	37	14	23893260	23893260	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893260C>T	ENST00000355349.3	-	23	2940	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	926					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCATCCTCCAGCCTCTCGT	0.517																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2776-2778)ctG>ctA		myosin, heavy chain 7, cardiac muscle, beta							215.0	176.0	189.0					14																	23893260		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23893260C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2778G>A	14.37:g.23893260C>T							p.L926L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	23	2940	-	all_cancers(95;2.54e-05)		926					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2778G>A	CCDS9601.1																																																																																				0.517	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		36	52	0	0	0	1	0	36	52				
C15orf26	161502	broad.mit.edu	37	15	81429027	81429027	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81429027C>A	ENST00000286732.4	+	3	413	c.330C>A	c.(328-330)ccC>ccA	p.P110P		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	110										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TAGAGGTACCCTGTGGCCTGA	0.433																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.(328-330)ccC>ccA		chromosome 15 open reading frame 26							111.0	114.0	113.0					15																	81429027		2031	4192	6223	SO:0001819	synonymous_variant	161502							g.chr15:81429027C>A	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.330C>A	15.37:g.81429027C>A							p.P110P	NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			3	413	+			110					Q8N906	Silent	SNP	ENST00000286732.4	37	c.330C>A	CCDS42068.1																																																																																				0.433	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		22	34	1	0	1.10513e-12	1	1.39297e-12	22	34				
RBP1	5947	broad.mit.edu	37	3	139257633	139257633	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139257633C>T	ENST00000483943.2	-	2	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.R143H|RBP1_ENST00000492918.1_Missense_Mutation_p.R143H	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	81					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CATGCACTTGCGGTCATCTAT	0.572																																						ENST00000483943.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(427-429)cGc>cAc		retinol binding protein 1, cellular	Vitamin A(DB00162)						216.0	164.0	182.0					3																	139257633		2203	4300	6503	SO:0001583	missense	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139257633C>T		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.428G>A	3.37:g.139257633C>T	ENSP00000424813:p.Arg143His					RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.R143H|RBP1_ENST00000232219.2_Missense_Mutation_p.R143H	p.R143H	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN			2	428	-			81					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	c.428G>A	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170138	0.94768	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.09817	2.94;2.94;2.94	5.28	5.28	0.74379	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.64402	D	0.000002	T	0.40719	0.1128	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.969	T	0.44892	-0.9298	10	0.72032	D	0.01	.	17.9094	0.88929	0.0:1.0:0.0:0.0	.	143;143;81	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	H	143	ENSP00000232219:R143H;ENSP00000424813:R143H;ENSP00000429166:R143H	ENSP00000232219:R143H	R	-	2	0	RBP1	140740323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.696000	0.84270	2.456000	0.83038	0.557000	0.71058	CGC		0.572	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		21	58	0	0	0	1	0	21	58				
THEMIS2	9473	broad.mit.edu	37	1	28209217	28209217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28209217A>G	ENST00000373921.3	+	4	1386	c.1382A>G	c.(1381-1383)gAc>gGc	p.D461G	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D332G|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	461	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTGGCCAAGGACACCAGCCAC	0.597																																						ENST00000373921.3																			0											c.(1381-1383)gAc>gGc		thymocyte selection associated family member 2							59.0	64.0	62.0					1																	28209217		2109	4208	6317	SO:0001583	missense	9473							g.chr1:28209217A>G	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1382A>G	1.37:g.28209217A>G	ENSP00000363031:p.Asp461Gly					THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D332G	p.D461G	NM_001105556.1	NP_001099026.1					4	1386	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1382A>G	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.15|16.15	3.041626|3.041626	0.55003|0.55003	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.17213|.	2.29;2.29|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77491|0.77491	0.4138|0.4138	M|M	0.84326|0.84326	2.69|2.69	0.42671|0.42671	D|D	0.993519|0.993519	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.995;0.997|.	T|T	0.80625|0.80625	-0.1299|-0.1299	10|5	0.87932|.	D|.	0|.	-34.8794|-34.8794	14.6377|14.6377	0.68702|0.68702	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	332;265;461|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	G|A	332;461|209	ENSP00000329862:D332G;ENSP00000363031:D461G|.	ENSP00000329862:D332G|.	D|T	+|+	2|1	0|0	C1orf38|C1orf38	28081804|28081804	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.023000|0.023000	0.10783|0.10783	8.770000|8.770000	0.91746|0.91746	2.014000|2.014000	0.59158|0.59158	0.454000|0.454000	0.30748|0.30748	GAC|ACA		0.597	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		14	31	0	0	0	1	0	14	31				
PPIEL	728448	broad.mit.edu	37	1	40011472	40011472	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40011472C>A	ENST00000440190.1	-	0	387				RP11-69E11.4_ENST00000417869.1_RNA																							TGTTCCCAATCTTGATGTCCA	0.562																																						ENST00000440190.1																			0																																																			0							g.chr1:40011472C>A																													1.37:g.40011472C>A														0	387	-									RNA	SNP	ENST00000440190.1	37																																																																																						0.562	RP11-69E11.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000025214.1			9	12	1	0	2.17888e-05	1	2.45068e-05	9	12				
ACSM1	116285	broad.mit.edu	37	16	20681161	20681161	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20681161C>A	ENST00000307493.4	-	5	967	c.900G>T	c.(898-900)aaG>aaT	p.K300N	ACSM1_ENST00000520010.1_Missense_Mutation_p.K300N|ACSM1_ENST00000219151.4_De_novo_Start_OutOfFrame	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	300					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTATGATGACCTTGGTGTCAA	0.433																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42								acyl-CoA synthetase medium-chain family member 1							150.0	132.0	138.0					16																	20681161		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20681161C>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.900G>T	16.37:g.20681161C>A	ENSP00000301956:p.Lys300Asn					ACSM1_ENST00000520010.1_Missense_Mutation_p.K300N|ACSM1_ENST00000307493.4_Missense_Mutation_p.K300N				Q08AH1	ACSM1_HUMAN			0	967	-								Q08AH2|Q96A20	Translation_Start_Site	SNP	ENST00000307493.4	37		CCDS10587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.033|2.033	-0.422014|-0.422014	0.04734|0.04734	.|.	.|.	ENSG00000166743|ENSG00000166743	ENST00000307493;ENST00000520010|ENST00000524149	T;T|.	0.42513|.	0.97;0.97|.	5.21|5.21	0.993|0.993	0.19825|0.19825	AMP-dependent synthetase/ligase (1);|.	0.417298|.	0.20275|.	N|.	0.095594|.	T|T	0.45054|0.45054	0.1323|0.1323	L|L	0.46614|0.46614	1.455|1.455	0.45025|0.45025	D|D	0.998043|0.998043	B|.	0.17852|.	0.024|.	B|.	0.21917|.	0.037|.	T|T	0.24190|0.24190	-1.0167|-1.0167	10|5	0.20519|.	T|.	0.43|.	.|.	3.0517|3.0517	0.06172|0.06172	0.1454:0.5533:0.1409:0.1604|0.1454:0.5533:0.1409:0.1604	.|.	300|.	Q08AH1|.	ACSM1_HUMAN|.	N|M	300|6	ENSP00000301956:K300N;ENSP00000428047:K300N|.	ENSP00000301956:K300N|.	K|R	-|-	3|2	2|0	ACSM1|ACSM1	20588662|20588662	0.001000|0.001000	0.12720|0.12720	0.471000|0.471000	0.27229|0.27229	0.044000|0.044000	0.14063|0.14063	-0.717000|-0.717000	0.04986|0.04986	0.060000|0.060000	0.16281|0.16281	0.557000|0.557000	0.71058|0.71058	AAG|AGG		0.433	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		7	74	1	0	0.00198382	1	0.00210581	7	74				
GPR61	83873	broad.mit.edu	37	1	110086628	110086628	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086628G>T	ENST00000527748.1	+	2	1667	c.984G>T	c.(982-984)tgG>tgT	p.W328C	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGTCACCTGGATTGGCTACT	0.522																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(982-984)tgG>tgT		G protein-coupled receptor 61							163.0	172.0	169.0					1																	110086628		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086628G>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.984G>T	1.37:g.110086628G>T	ENSP00000432456:p.Trp328Cys						p.W328C	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1667	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	328					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.984G>T	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482183	0.63962	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.73789	-0.78	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87038	0.6078	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.88349	0.2980	10	0.87932	D	0	-24.0399	18.9044	0.92454	0.0:0.0:1.0:0.0	.	328	Q9BZJ8	GPR61_HUMAN	C	328;456	ENSP00000432456:W328C	ENSP00000286603:W456C	W	+	3	0	GPR61	109888151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	TGG		0.522	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			51	139	1	0	4.10029e-35	1	5.51555e-35	51	139				
HSPA1L	3305	broad.mit.edu	37	6	31778626	31778626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778626G>T	ENST00000375654.4	-	2	1313	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A375D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	375					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGTACCGCAGCCCCATATGC	0.597																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1123-1125)gCt>gAt		heat shock 70kDa protein 1-like							76.0	67.0	70.0					6																	31778626		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31778626G>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1124C>A	6.37:g.31778626G>T	ENSP00000364805:p.Ala375Asp					HSPA1L_ENST00000417199.3_Missense_Mutation_p.A375D	p.A375D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1313	-			375					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1124C>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757099	0.69648	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01963	4.53;4.53	5.2	5.2	0.72013	.	0.000000	0.34580	N	0.003848	T	0.29556	0.0737	H	0.99998	5.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66164	-0.5992	10	0.87932	D	0	-12.9945	16.2725	0.82628	0.0:0.0:1.0:0.0	.	375	P34931	HS71L_HUMAN	D	375;375;320	ENSP00000364805:A375D;ENSP00000387691:A375D	ENSP00000364804:A320D	A	-	2	0	HSPA1L	31886605	1.000000	0.71417	0.956000	0.39512	0.792000	0.44763	9.633000	0.98432	2.704000	0.92352	0.585000	0.79938	GCT		0.597	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			10	52	1	0	1.58986e-06	1	1.84011e-06	10	52				
TMPRSS9	360200	broad.mit.edu	37	19	2399191	2399191	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2399191G>T	ENST00000332578.3	+	3	412	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	138					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCTCACAGGTGAGTGGGC	0.587																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e3+1		transmembrane protease, serine 9							32.0	29.0	30.0					19																	2399191		2203	4299	6502	SO:0001630	splice_region_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2399191G>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.412+1G>T	19.37:g.2399191G>T							p.G138_splice	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	412	+			138					Q6ZND6|Q7Z411	Splice_Site	SNP	ENST00000332578.3	37	c.412_splice	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859636	0.32884	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.89196	-2.48	4.4	3.35	0.38373	.	0.301734	0.23058	U	0.052418	D	0.92358	0.7575	M	0.65498	2.005	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.91374	0.5122	10	0.56958	D	0.05	.	9.6961	0.40158	0.1011:0.0:0.8989:0.0	.	138;172	Q7Z410;E7EMP4	TMPS9_HUMAN;.	W	172;138	ENSP00000330264:G138W	ENSP00000330264:G138W	G	+	1	0	TMPRSS9	2350191	1.000000	0.71417	0.961000	0.40146	0.009000	0.06853	3.782000	0.55401	0.998000	0.38996	-0.390000	0.06520	GGG		0.587	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	Missense_Mutation	12	11	1	0	0.00244969	1	0.00259885	12	11				
HLA-DRA	3122	broad.mit.edu	37	6	32410377	32410377	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32410377T>A	ENST00000374982.5	+	2	308	c.235T>A	c.(235-237)Ttt>Att	p.F79I	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.F79I			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	79	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ATTTGCCAGCTTTGAGGCTCA	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(235-237)Ttt>Att		major histocompatibility complex, class II, DR alpha							176.0	171.0	173.0					6																	32410377		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410377T>A		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.235T>A	6.37:g.32410377T>A	ENSP00000364121:p.Phe79Ile					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.F79I	p.F79I	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			2	344	+			79			Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.235T>A		.	.	.	.	.	.	.	.	.	.	.	18.58	3.655369	0.67586	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.00976	5.48;5.48	5.38	5.38	0.77491	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.439409	0.26369	N	0.024762	T	0.02848	0.0085	H	0.97758	4.07	0.35251	D	0.778651	B;P	0.39131	0.118;0.661	B;P	0.45343	0.309;0.477	T	0.00042	-1.2230	10	0.87932	D	0	.	11.7551	0.51870	0.0:0.0:0.0:1.0	.	79;79	Q30118;P01903	.;DRA_HUMAN	I	79	ENSP00000378786:F79I;ENSP00000364121:F79I	ENSP00000364121:F79I	F	+	1	0	HLA-DRA	32518355	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.465000	0.60141	2.270000	0.75569	0.519000	0.50382	TTT		0.468	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		34	67	0	0	0	1	0	34	67				
RANBP6	26953	broad.mit.edu	37	9	6013420	6013420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6013420C>T	ENST00000259569.5	-	1	2198	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	730					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTGCTGCTGCCACTCGAACA	0.428																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2188-2190)Gca>Aca		RAN binding protein 6							85.0	86.0	86.0					9																	6013420		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013420C>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2188G>A	9.37:g.6013420C>T	ENSP00000259569:p.Ala730Thr						p.A730T	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2198	-		Acute lymphoblastic leukemia(23;0.158)	730					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2188G>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857034	0.71834	.	.	ENSG00000137040	ENST00000259569	T	0.26957	1.7	3.79	3.79	0.43588	Armadillo-like helical (1);Armadillo-type fold (1);	0.056809	0.64402	U	0.000002	T	0.36331	0.0963	M	0.85630	2.765	0.80722	D	1	B;P	0.45768	0.26;0.866	B;B	0.42555	0.196;0.391	T	0.47983	-0.9074	10	0.49607	T	0.09	-8.4728	13.9764	0.64275	0.0:1.0:0.0:0.0	.	318;730	B4DTX6;O60518	.;RNBP6_HUMAN	T	730	ENSP00000259569:A730T	ENSP00000259569:A730T	A	-	1	0	RANBP6	6003420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.675000	0.68123	2.404000	0.81709	0.650000	0.86243	GCA		0.428	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		35	54	0	0	0	1	0	35	54				
PSME4	23198	broad.mit.edu	37	2	54163276	54163276	+	Missense_Mutation	SNP	C	C	T	rs528864081		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54163276C>T	ENST00000404125.1	-	7	837	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	261					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTAGCCAATCGAGCAAAGAG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.001					ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(781-783)cGa>cAa		proteasome (prosome, macropain) activator subunit 4							111.0	116.0	114.0					2																	54163276		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54163276C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.782G>A	2.37:g.54163276C>T	ENSP00000384211:p.Arg261Gln					PSME4_ENST00000421748.2_Intron	p.R261Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		7	837	-			261					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.782G>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	36	5.698721	0.96802	.	.	ENSG00000068878	ENST00000404125	T	0.35048	1.33	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.60890	-0.7173	10	0.37606	T	0.19	.	19.6392	0.95751	0.0:1.0:0.0:0.0	.	261	Q14997	PSME4_HUMAN	Q	261	ENSP00000384211:R261Q	ENSP00000374643:R261Q	R	-	2	0	PSME4	54016780	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.608000	0.82898	2.643000	0.89663	0.557000	0.71058	CGA		0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		36	69	0	0	0	1	0	36	69				
FAM154B	283726	broad.mit.edu	37	15	82574798	82574798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82574798C>T	ENST00000339465.5	+	3	661	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.L183F	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	198										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AACTGCAAAACTCTGCAGACC	0.463																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(592-594)Ctc>Ttc		family with sequence similarity 154, member B							58.0	56.0	57.0					15																	82574798		2203	4300	6503	SO:0001583	missense	283726							g.chr15:82574798C>T	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.592C>T	15.37:g.82574798C>T	ENSP00000340445:p.Leu198Phe					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.L183F	p.L198F	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			3	661	+			198					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.592C>T	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474963	0.26511	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.19105	2.17;2.17	3.9	1.38	0.22167	.	0.203598	0.37623	N	0.002007	T	0.11281	0.0275	N	0.14661	0.345	0.21020	N	0.999805	B;B	0.32467	0.372;0.14	B;B	0.30179	0.073;0.112	T	0.17471	-1.0368	10	0.48119	T	0.1	-6.0069	10.5602	0.45142	0.6892:0.3108:0.0:0.0	.	183;198	B4E2M2;Q658L1	.;F154B_HUMAN	F	198;183	ENSP00000340445:L198F;ENSP00000403743:L183F	ENSP00000340445:L198F	L	+	1	0	FAM154B	80361853	1.000000	0.71417	0.597000	0.28824	0.808000	0.45660	1.375000	0.34295	0.147000	0.19030	-0.441000	0.05720	CTC		0.463	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		23	30	0	0	0	1	0	23	30				
COG7	91949	broad.mit.edu	37	16	23428437	23428437	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23428437A>G	ENST00000307149.5	-	9	1328	c.1143T>C	c.(1141-1143)caT>caC	p.H381H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	381					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCACTTCCCCATGCTCCTGGT	0.493																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1141-1143)caT>caC		component of oligomeric golgi complex 7							76.0	60.0	65.0					16																	23428437		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23428437A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1143T>C	16.37:g.23428437A>G							p.H381H	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	9	1328	-			381					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.1143T>C	CCDS10610.1																																																																																				0.493	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			4	41	0	0	0	1	0	4	41				
GART	2618	broad.mit.edu	37	21	34900595	34900595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34900595G>A	ENST00000381831.3	-	10	1207	c.944C>T	c.(943-945)tCc>tTc	p.S315F	GART_ENST00000381815.4_Missense_Mutation_p.S315F|GART_ENST00000361093.5_Missense_Mutation_p.S315F|GART_ENST00000497313.1_5'Flank|GART_ENST00000381839.3_Missense_Mutation_p.S315F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	315	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATCTAAGGTGGACTGAATCAC	0.423																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(943-945)tCc>tTc		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						111.0	102.0	105.0					21																	34900595		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34900595G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.944C>T	21.37:g.34900595G>A	ENSP00000371253:p.Ser315Phe					GART_ENST00000381815.4_Missense_Mutation_p.S315F|GART_ENST00000381839.3_Missense_Mutation_p.S315F|GART_ENST00000361093.5_Missense_Mutation_p.S315F	p.S315F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			10	1207	-			315			ATP-grasp.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.944C>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670754	0.67814	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.57	4.68	0.58851	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.373640	0.33875	N	0.004475	T	0.37812	0.1017	L	0.54323	1.7	0.47123	D	0.999326	P	0.49090	0.919	P	0.45971	0.499	T	0.36138	-0.9760	10	0.87932	D	0	-7.6914	16.551	0.84473	0.0:0.1306:0.8694:0.0	.	315	P22102	PUR2_HUMAN	F	315	ENSP00000371236:S315F;ENSP00000371253:S315F;ENSP00000371261:S315F;ENSP00000354388:S315F	ENSP00000354388:S315F	S	-	2	0	GART	33822465	1.000000	0.71417	0.961000	0.40146	0.625000	0.37756	6.601000	0.74136	1.356000	0.45884	-0.314000	0.08810	TCC		0.423	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		23	43	0	0	0	1	0	23	43				
BIN2	51411	broad.mit.edu	37	12	51695870	51695870	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51695870C>A	ENST00000267012.4	-	5	403	c.342G>T	c.(340-342)gaG>gaT	p.E114D	BIN2_ENST00000604560.1_Missense_Mutation_p.E87D|BIN2_ENST00000452142.2_Intron|BIN2_ENST00000544402.1_Missense_Mutation_p.E88D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAGTTTCTCCTCGTAGTCTT	0.473																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(340-342)gaG>gaT		bridging integrator 2							129.0	106.0	114.0					12																	51695870		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51695870C>A	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.342G>T	12.37:g.51695870C>A	ENSP00000267012:p.Glu114Asp					BIN2_ENST00000544402.1_Missense_Mutation_p.E88D|BIN2_ENST00000604560.1_Missense_Mutation_p.E87D|BIN2_ENST00000452142.2_Intron	p.E114D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			5	403	-			114			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.342G>T	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964074	0.53507	.	.	ENSG00000110934	ENST00000267012;ENST00000544402	T;T	0.63096	-0.02;-0.02	5.48	3.16	0.36331	BAR (3);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.72894	2.215	0.37506	D	0.916975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71991	-0.4425	10	0.30078	T	0.28	-9.197	7.0896	0.25277	0.0:0.258:0.0:0.742	.	88;114	F5H0W4;Q9UBW5	.;BIN2_HUMAN	D	114;88	ENSP00000267012:E114D;ENSP00000445874:E88D	ENSP00000267012:E114D	E	-	3	2	BIN2	49982137	0.992000	0.36948	1.000000	0.80357	0.601000	0.36947	0.240000	0.18042	1.044000	0.40200	-0.471000	0.05019	GAG		0.473	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			4	63	1	0	0.00024832	1	0.0002712	4	63				
ZNF765	91661	broad.mit.edu	37	19	53911139	53911139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53911139G>A	ENST00000396408.3	+	4	448	c.331G>A	c.(331-333)Gca>Aca	p.A111T	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGCCATGAAGCACTCATGAC	0.353																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(331-333)Gca>Aca		zinc finger protein 765							83.0	85.0	84.0					19																	53911139		2200	4299	6499	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911139G>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.331G>A	19.37:g.53911139G>A	ENSP00000379689:p.Ala111Thr					ZNF765_ENST00000594030.1_Intron	p.A111T	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	448	+			111					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.331G>A	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912323	0.17907	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07327	3.2;4.18	0.439	0.439	0.16567	.	.	.	.	.	T	0.12689	0.0308	L	0.43923	1.385	0.18873	N	0.999982	D	0.58620	0.983	P	0.55615	0.78	T	0.20405	-1.0276	8	.	.	.	.	6.5857	0.22620	2.0E-4:0.0:0.9998:0.0	.	111	Q7L2R6	ZN765_HUMAN	T	111;58	ENSP00000379689:A111T;ENSP00000421579:A58T	.	A	+	1	0	ZNF765	58602951	0.000000	0.05858	0.016000	0.15963	0.160000	0.22226	-2.807000	0.00757	0.446000	0.26666	0.174000	0.16983	GCA		0.353	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		25	44	0	0	0	1	0	25	44				
APOBEC3G	60489	broad.mit.edu	37	22	39483117	39483117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39483117C>T	ENST00000407997.3	+	7	1483	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R376W	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	376					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGGGAGGCTGCGGGCCATTCT	0.632																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(1126-1128)Cgg>Tgg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							100.0	93.0	95.0					22																	39483117		2203	4300	6503	SO:0001583	missense	60489							g.chr22:39483117C>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.1126C>T	22.37:g.39483117C>T	ENSP00000385057:p.Arg376Trp					APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R376W	p.R376W	NM_021822.3	NP_068594.1					7	1483	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.1126C>T	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	4.817	0.151884	0.09185	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.65732	-0.17;-0.17	1.39	-2.78	0.05859	.	.	.	.	.	T	0.67230	0.2871	M	0.63843	1.955	0.09310	N	1	D	0.76494	0.999	P	0.62560	0.904	T	0.58747	-0.7582	9	0.54805	T	0.06	.	5.4543	0.16582	0.1999:0.406:0.3941:0.0	.	376	Q9HC16	ABC3G_HUMAN	W	376	ENSP00000413376:R376W;ENSP00000385057:R376W	ENSP00000385057:R376W	R	+	1	2	APOBEC3G	37813063	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.466000	0.06672	-0.824000	0.04295	0.305000	0.20034	CGG		0.632	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		11	41	0	0	0	1	0	11	41				
TRIM8	81603	broad.mit.edu	37	10	104414976	104414976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104414976C>T	ENST00000302424.7	+	3	928	c.806C>T	c.(805-807)gCg>gTg	p.A269V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	269					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCAGCGCAGGCGCTGCACCTC	0.622																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(805-807)gCg>gTg		tripartite motif containing 8							50.0	50.0	50.0					10																	104414976		2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104414976C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.806C>T	10.37:g.104414976C>T	ENSP00000302120:p.Ala269Val					TRIM8_ENST00000487927.1_3'UTR	p.A269V	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	928	+		Colorectal(252;0.122)	269					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.806C>T	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	9.018	0.984059	0.18889	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.58652	0.32	5.55	4.64	0.57946	.	0.216276	0.42682	D	0.000676	T	0.25644	0.0624	N	0.03608	-0.345	0.40464	D	0.980279	B	0.06786	0.001	B	0.04013	0.001	T	0.28299	-1.0048	10	0.07813	T	0.8	.	5.2833	0.15688	0.0:0.7229:0.0:0.2771	.	269	Q9BZR9	TRIM8_HUMAN	V	269;268	ENSP00000302120:A269V	ENSP00000302120:A269V	A	+	2	0	TRIM8	104404966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.443000	0.52907	2.627000	0.88993	0.561000	0.74099	GCG		0.622	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		32	46	0	0	0	1	0	32	46				
NAV2	89797	broad.mit.edu	37	11	19954923	19954923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19954923C>A	ENST00000396087.3	+	8	1301	c.1202C>A	c.(1201-1203)cCt>cAt	p.P401H	NAV2_ENST00000396085.1_Missense_Mutation_p.P378H|NAV2_ENST00000360655.4_Missense_Mutation_p.P314H|NAV2_ENST00000349880.4_Missense_Mutation_p.P378H|NAV2_ENST00000540292.1_Missense_Mutation_p.P332H|NAV2_ENST00000527559.2_Missense_Mutation_p.P330H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	401					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCGGTCAAGCCTCCTGGGCCT	0.597																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1132-1134)cCt>cAt		neuron navigator 2							107.0	109.0	108.0					11																	19954923		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19954923C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1202C>A	11.37:g.19954923C>A	ENSP00000379396:p.Pro401His					NAV2_ENST00000396087.3_Missense_Mutation_p.P401H|NAV2_ENST00000540292.1_Missense_Mutation_p.P332H|NAV2_ENST00000527559.2_Missense_Mutation_p.P330H|NAV2_ENST00000360655.4_Missense_Mutation_p.P314H|NAV2_ENST00000349880.4_Missense_Mutation_p.P378H	p.P378H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1494	+			401					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.1133C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525349	0.27299	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.6;1.71;1.71;1.71;1.6;1.6	5.56	2.29	0.28610	.	0.300428	0.29028	N	0.013366	T	0.29028	0.0721	L	0.38175	1.15	0.80722	D	1	P;P	0.39535	0.488;0.677	P;P	0.47673	0.521;0.554	T	0.02214	-1.1194	9	.	.	.	.	8.1094	0.30905	0.4801:0.4186:0.0:0.1013	.	378;314	Q8IVL1-3;Q8IVL1-4	.;.	H	314;378;378;401;330;332	ENSP00000353871:P314H;ENSP00000379394:P378H;ENSP00000309577:P378H;ENSP00000379396:P401H;ENSP00000435395:P330H;ENSP00000443489:P332H	.	P	+	2	0	NAV2	19911499	1.000000	0.71417	0.190000	0.23270	0.006000	0.05464	3.166000	0.50785	0.198000	0.20407	0.557000	0.71058	CCT		0.597	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		14	193	1	0	6.31663e-08	1	7.49729e-08	14	193				
TM9SF4	9777	broad.mit.edu	37	20	30729426	30729426	+	Missense_Mutation	SNP	G	G	A	rs139891092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30729426G>A	ENST00000398022.2	+	4	591	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	TM9SF4_ENST00000217315.5_Missense_Mutation_p.R102Q	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	119						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCAGAGCCGACTCGTGGCC	0.577																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(304-306)cGa>cAa		transmembrane 9 superfamily protein member 4		G	GLN/ARG	0,4406		0,0,2203	101.0	99.0	100.0		356	3.2	1.0	20	dbSNP_134	100	1,8599		0,1,4299	no	missense	TM9SF4	NM_014742.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	119/643	30729426	1,13005	2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30729426G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.356G>A	20.37:g.30729426G>A	ENSP00000381104:p.Arg119Gln					TM9SF4_ENST00000398022.2_Missense_Mutation_p.R119Q	p.R102Q			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		4	645	+			119					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.305G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	.	15.30	2.794021	0.50102	0.0	1.16E-4	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	T;T	0.41065	1.01;1.01	5.51	3.22	0.36961	.	0.061993	0.64402	D	0.000005	T	0.19805	0.0476	N	0.08118	0	0.35443	D	0.795056	B;B;B	0.16396	0.017;0.012;0.0	B;B;B	0.15052	0.012;0.005;0.001	T	0.10941	-1.0608	10	0.34782	T	0.22	-8.5216	6.3135	0.21178	0.3792:0.0:0.6208:0.0	.	45;26;119	F5H3B5;B4DH88;Q92544	.;.;TM9S4_HUMAN	Q	119;45;102	ENSP00000381104:R119Q;ENSP00000217315:R102Q	ENSP00000217315:R102Q	R	+	2	0	TM9SF4	30193087	1.000000	0.71417	0.984000	0.44739	0.585000	0.36419	4.179000	0.58290	1.327000	0.45338	0.563000	0.77884	CGA		0.577	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		38	54	0	0	0	1	0	38	54				
RABGAP1	23637	broad.mit.edu	37	9	125748528	125748528	+	Silent	SNP	C	C	T	rs151226317	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125748528C>T	ENST00000373647.4	+	4	554	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	140					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CACCAGTGGCCGATGAGGACA	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		20110	0.002		0.0	False		,,,				2504	0.0					ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(418-420)gcC>gcT		RAB GTPase activating protein 1		C		2,4404	4.2+/-10.8	0,2,2201	111.0	107.0	109.0		420	-8.2	0.7	9	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	RABGAP1	NM_012197.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		140/1070	125748528	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125748528C>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.420C>T	9.37:g.125748528C>T							p.A140A	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			4	554	+			140					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.420C>T	CCDS6848.2																																																																																				0.413	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		24	46	0	0	0	1	0	24	46				
NFATC3	4775	broad.mit.edu	37	16	68225673	68225673	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68225673A>G	ENST00000346183.3	+	9	3125	c.3101A>G	c.(3100-3102)gAt>gGt	p.D1034G	NFATC3_ENST00000575270.1_Missense_Mutation_p.D1034G|NFATC3_ENST00000329524.4_Missense_Mutation_p.D1034G|NFATC3_ENST00000349223.5_Missense_Mutation_p.D1034G|NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1034					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATCACTTTAGATGATGGTAAG	0.418																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(3100-3102)gAt>gGt		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							146.0	140.0	142.0					16																	68225673		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68225673A>G	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.3101A>G	16.37:g.68225673A>G	ENSP00000300659:p.Asp1034Gly					NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.D1034G|NFATC3_ENST00000329524.4_Missense_Mutation_p.D1034G|NFATC3_ENST00000575270.1_Missense_Mutation_p.D1034G	p.D1034G	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	3325	+		Ovarian(137;0.0563)	1034					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.3101A>G	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238179	0.79800	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.24538	2.1;1.85;1.94	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.997;0.997	D;D;D;D	0.85130	0.989;0.997;0.989;0.989	T	0.51124	-0.8745	10	0.87932	D	0	-11.933	15.9681	0.79991	1.0:0.0:0.0:0.0	.	1034;1034;1034;1034	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	G	1034;1034;1034;555	ENSP00000264008:D1034G;ENSP00000300659:D1034G;ENSP00000331324:D1034G	ENSP00000331324:D1034G	D	+	2	0	NFATC3	66783174	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.667000	0.91153	2.170000	0.68504	0.454000	0.30748	GAT		0.418	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		15	154	0	0	0	1	0	15	154				
ALDH1L1	10840	broad.mit.edu	37	3	125828946	125828946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125828946C>A	ENST00000393434.2	-	20	2537	c.2188G>T	c.(2188-2190)Gag>Tag	p.E730*	ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.E730*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.E629*|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.E740*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	730	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCGCACCTCTTCTACCTGC	0.577																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2188-2190)Gag>Tag		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						123.0	113.0	116.0					3																	125828946		2203	4300	6503	SO:0001587	stop_gained	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125828946C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2188G>T	3.37:g.125828946C>A	ENSP00000377083:p.Glu730*					ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.E740*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.E629*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.E730*	p.E730*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	20	2537	-			730			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Nonsense_Mutation	SNP	ENST00000393434.2	37	c.2188G>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	40	8.218933	0.98712	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	.	.	.	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	13.431	0.61055	0.0:1.0:0.0:0.0	.	.	.	.	X	740;730;629;730	.	ENSP00000273450:E740X	E	-	1	0	ALDH1L1	127311636	1.000000	0.71417	0.784000	0.31847	0.008000	0.06430	6.979000	0.76154	2.032000	0.59987	0.491000	0.48974	GAG		0.577	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		4	47	1	0	0.217242	1	0.218821	4	47				
SOCS4	122809	broad.mit.edu	37	14	55510641	55510641	+	Silent	SNP	C	C	T	rs536008211		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55510641C>T	ENST00000395472.2	+	2	1214	c.882C>T	c.(880-882)taC>taT	p.Y294Y	SOCS4_ENST00000555846.1_Silent_p.Y294Y|SOCS4_ENST00000339298.2_Silent_p.Y294Y	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	294	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGGATAAATACGCAGCCGAAG	0.428													c|||	1	0.000199681	0.0	0.0	5008	,	,		21931	0.001		0.0	False		,,,				2504	0.0					ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(880-882)taC>taT		suppressor of cytokine signaling 4							121.0	114.0	117.0					14																	55510641		2203	4300	6503	SO:0001819	synonymous_variant	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510641C>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.882C>T	14.37:g.55510641C>T						SOCS4_ENST00000339298.2_Silent_p.Y294Y|SOCS4_ENST00000555846.1_Silent_p.Y294Y	p.Y294Y	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1214	+			294			SH2.			Silent	SNP	ENST00000395472.2	37	c.882C>T	CCDS9722.1																																																																																				0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			32	61	0	0	0	1	0	32	61				
MYO3B	140469	broad.mit.edu	37	2	171256710	171256710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171256710G>T	ENST00000408978.4	+	17	1947	c.1804G>T	c.(1804-1806)Gtg>Ttg	p.V602L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V602L|MYO3B_ENST00000334231.6_Missense_Mutation_p.V611L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	602	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGTGCACTCAGTGTACAGAAT	0.413																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1831-1833)Gtg>Ttg		myosin IIIB							234.0	212.0	219.0					2																	171256710		1878	4116	5994	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171256710G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1804G>T	2.37:g.171256710G>T	ENSP00000386213:p.Val602Leu					MYO3B_ENST00000409044.3_Missense_Mutation_p.V602L|MYO3B_ENST00000408978.4_Missense_Mutation_p.V602L|MYO3B_ENST00000602629.1_3'UTR	p.V611L			Q8WXR4	MYO3B_HUMAN			17	1831	+			602			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1831G>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117395	0.77323	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	6.03	6.03	0.97812	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.33710	1.025	0.80722	D	1	P;B;P	0.49447	0.828;0.144;0.924	B;B;P	0.53760	0.263;0.063;0.734	D	0.88182	0.2871	10	0.54805	T	0.06	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	602;602;602	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	L	602;602;601;611;611	ENSP00000386497:V602L;ENSP00000386213:V602L;ENSP00000446237:V611L;ENSP00000335100:V611L	ENSP00000314213:V601L	V	+	1	0	MYO3B	170964956	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GTG		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			60	146	1	0	3.8688e-20	1	5.07229e-20	60	146				
BMP5	653	broad.mit.edu	37	6	55684513	55684513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55684513C>T	ENST00000370830.3	-	2	1321	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R208Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	208					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTTTCAAATCGGTTGTTGCT	0.338																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(622-624)cGa>cAa		bone morphogenetic protein 5							103.0	96.0	98.0					6																	55684513		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684513C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.623G>A	6.37:g.55684513C>T	ENSP00000359866:p.Arg208Gln					BMP5_ENST00000446683.2_Missense_Mutation_p.R208Q	p.R208Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	1321	-	Lung NSC(77;0.0462)		208					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.623G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785476	0.90282	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.64260	-0.09;-0.09	5.74	5.74	0.90152	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.989;0.997	P;P	0.61874	0.774;0.895	T	0.59705	-0.7404	10	0.19590	T	0.45	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	208;208	B4E0Y4;P22003	.;BMP5_HUMAN	Q	208	ENSP00000359866:R208Q;ENSP00000391818:R208Q	ENSP00000359866:R208Q	R	-	2	0	BMP5	55792472	1.000000	0.71417	0.906000	0.35671	0.961000	0.63080	5.727000	0.68523	2.712000	0.92718	0.650000	0.86243	CGA		0.338	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			12	28	0	0	0	1	0	12	28				
PCDHB6	56130	broad.mit.edu	37	5	140531705	140531705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140531705C>T	ENST00000231136.1	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.687																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1867-1869)Cgc>Tgc									26.0	29.0	28.0					5																	140531705		2059	4096	6155	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531705C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1867C>T	5.37:g.140531705C>T	ENSP00000231136:p.Arg623Cys					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487C	p.R623C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1867	+			623			Cadherin 6.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1867C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529105	0.44969	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.65	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76248	0.3961	M	0.93978	3.48	0.53005	D	0.999965	D	0.89917	1.0	D	0.79784	0.993	D	0.83964	0.0323	9	0.87932	D	0	.	16.2179	0.82239	0.0:1.0:0.0:0.0	.	623	Q9Y5E3	PCDB6_HUMAN	C	487;623	ENSP00000438466:R487C;ENSP00000231136:R623C	ENSP00000231136:R623C	R	+	1	0	PCDHB6	140511889	0.513000	0.26194	1.000000	0.80357	0.224000	0.24922	1.201000	0.32259	2.223000	0.72356	0.556000	0.70494	CGC		0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		16	23	0	0	0	1	0	16	23				
RYR1	6261	broad.mit.edu	37	19	38946361	38946361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38946361C>T	ENST00000359596.3	+	16	1761	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	RYR1_ENST00000355481.4_Silent_p.S587S|RYR1_ENST00000360985.3_Silent_p.S587S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	587	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCATCATCTCCCTCCTGGACA	0.572																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1759-1761)tcC>tcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						120.0	96.0	104.0					19																	38946361		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38946361C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1761C>T	19.37:g.38946361C>T						RYR1_ENST00000359596.3_Silent_p.S587S|RYR1_ENST00000360985.3_Silent_p.S587S	p.S587S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		16	1892	+	all_cancers(60;7.91e-06)		587			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.1761C>T	CCDS33011.1																																																																																				0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	23	0	0	0	1	0	8	23				
DOCK3	1795	broad.mit.edu	37	3	51395449	51395449	+	Missense_Mutation	SNP	C	C	T	rs372827222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51395449C>T	ENST00000266037.9	+	46	4848	c.4825C>T	c.(4825-4827)Cgg>Tgg	p.R1609W		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1609	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGAAATGCGGCCTCTGCA	0.498																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4825-4827)Cgg>Tgg		dedicator of cytokinesis 3		C	TRP/ARG	1,4025		0,1,2012	164.0	164.0	164.0		4825	3.6	1.0	3		164	0,8340		0,0,4170	no	missense	DOCK3	NM_004947.4	101	0,1,6182	TT,TC,CC		0.0,0.0248,0.0081	probably-damaging	1609/2031	51395449	1,12365	2013	4170	6183	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51395449C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4825C>T	3.37:g.51395449C>T	ENSP00000266037:p.Arg1609Trp						p.R1609W	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	46	4848	+			1609			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4825C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358391	0.82243	2.48E-4	0.0	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18502	2.21	5.5	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43458	-0.9390	10	0.87932	D	0	.	14.4054	0.67079	0.2869:0.713:0.0:0.0	.	1609	Q8IZD9	DOCK3_HUMAN	W	1609;405	ENSP00000266037:R1609W	ENSP00000266037:R1609W	R	+	1	2	DOCK3	51370489	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.844000	0.62846	0.618000	0.30179	-0.410000	0.06199	CGG		0.498	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		39	52	0	0	0	1	0	39	52				
WAPAL	23063	broad.mit.edu	37	10	88259847	88259847	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88259847T>C	ENST00000298767.5	-	3	1625	c.1153A>G	c.(1153-1155)Act>Gct	p.T385A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	385	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTGGATGCAGTGAACTCATCC	0.418																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(1153-1155)Act>Gct		wings apart-like homolog (Drosophila)							75.0	73.0	74.0					10																	88259847		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88259847T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1153A>G	10.37:g.88259847T>C	ENSP00000298767:p.Thr385Ala						p.T385A	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			3	1625	-			385			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.1153A>G	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262705	0.39995	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.32515	1.45	5.77	4.65	0.58169	.	0.121518	0.56097	D	0.000029	T	0.27731	0.0682	L	0.53249	1.67	0.80722	D	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.16722	0.003;0.005;0.016	T	0.06972	-1.0797	10	0.33141	T	0.24	.	9.3275	0.38001	0.0:0.1365:0.0:0.8635	.	385;385;428	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	A	470;385;470	ENSP00000298767:T385A	ENSP00000298767:T385A	T	-	1	0	WAPAL	88249827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.446000	0.44908	2.194000	0.70268	0.528000	0.53228	ACT		0.418	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		23	33	0	0	0	1	0	23	33				
AKAP11	11215	broad.mit.edu	37	13	42869861	42869861	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42869861G>T	ENST00000025301.2	+	5	374	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	67					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.D67Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGAGACAGATGCTGCTCA	0.348																																						ENST00000025301.2																			1	Substitution - Missense(1)	p.D67Y(1)	lung(1)	breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(199-201)Gat>Tat		A kinase (PRKA) anchor protein 11							157.0	156.0	156.0					13																	42869861		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42869861G>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.199G>T	13.37:g.42869861G>T	ENSP00000025301:p.Asp67Tyr						p.D67Y	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	5	374	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	67					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.199G>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621454	0.66787	.	.	ENSG00000023516	ENST00000025301	T	0.21031	2.03	5.34	5.34	0.76211	.	0.132803	0.51477	D	0.000087	T	0.41719	0.1171	L	0.50333	1.59	0.41867	D	0.990256	D	0.89917	1.0	D	0.76071	0.987	T	0.20273	-1.0280	10	0.87932	D	0	.	16.1146	0.81295	0.0:0.0:1.0:0.0	.	67	Q9UKA4	AKA11_HUMAN	Y	67	ENSP00000025301:D67Y	ENSP00000025301:D67Y	D	+	1	0	AKAP11	41767861	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.057000	0.57455	2.660000	0.90430	0.655000	0.94253	GAT		0.348	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		6	77	1	0	0.000157383	1	0.00017284	6	77				
C11orf57	55216	broad.mit.edu	37	11	111953686	111953686	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111953686A>G	ENST00000280352.9	+	6	1505	c.869A>G	c.(868-870)gAg>gGg	p.E290G	C11orf57_ENST00000532163.1_Missense_Mutation_p.E262G|C11orf57_ENST00000420986.2_Missense_Mutation_p.E290G|C11orf57_ENST00000393047.3_Missense_Mutation_p.E291G|TIMM8B_ENST00000507614.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	290										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GAGAGCTCAGAGGATGACTAA	0.433																																						ENST00000532163.1																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(784-786)gAg>gGg		chromosome 11 open reading frame 57							67.0	66.0	66.0					11																	111953686		2195	4296	6491	SO:0001583	missense	55216							g.chr11:111953686A>G	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.869A>G	11.37:g.111953686A>G	ENSP00000339076:p.Glu290Gly					C11orf57_ENST00000393047.3_Missense_Mutation_p.E291G|C11orf57_ENST00000280352.9_Missense_Mutation_p.E290G|C11orf57_ENST00000420986.2_Missense_Mutation_p.E290G	p.E262G			Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	6	1551	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	290					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	c.785A>G	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555792	0.65425	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000393048	.	.	.	5.3	5.3	0.74995	.	0.512115	0.21002	N	0.081858	T	0.40570	0.1122	L	0.27053	0.805	0.39176	D	0.962688	P;P	0.39480	0.675;0.675	B;B	0.34536	0.185;0.185	T	0.51060	-0.8753	9	0.72032	D	0.01	4.3928	15.4094	0.74905	1.0:0.0:0.0:0.0	.	291;290	Q6ZUT1-2;Q6ZUT1	.;CK057_HUMAN	G	290;262;290;291;145	.	ENSP00000339076:E290G	E	+	2	0	C11orf57	111458896	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.726000	0.61986	2.216000	0.71823	0.533000	0.62120	GAG		0.433	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		12	30	0	0	0	1	0	12	30				
GAL3ST4	79690	broad.mit.edu	37	7	99758203	99758203	+	Missense_Mutation	SNP	C	C	T	rs190271844		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99758203C>T	ENST00000360039.4	-	4	1201	c.809G>A	c.(808-810)cGc>cAc	p.R270H	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R208H|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R270H|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A169T|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A169T|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	270					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATCTGGCTGCGATGATCAGT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19339	0.0		0.001	False		,,,				2504	0.0					ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(808-810)cGc>cAc		galactose-3-O-sulfotransferase 4		C	HIS/ARG	1,4405		0,1,2202	107.0	106.0	107.0		809	-0.7	0.0	7		107	1,8599		0,1,4299	yes	missense	GAL3ST4	NM_024637.4	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	270/487	99758203	2,13004	2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758203C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.809G>A	7.37:g.99758203C>T	ENSP00000353142:p.Arg270His					GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R208H|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A169T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R270H|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A169T	p.R270H	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1201	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		270					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.809G>A	CCDS5688.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	C|C	0.013|0.013	-1.641842|-1.641842	0.00799|0.00799	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|T;T;T	.|0.32272	.|1.52;1.52;1.46	4.82|4.82	-0.677|-0.677	0.11357|0.11357	.|.	.|0.544354	.|0.13618	.|N	.|0.374601	T|T	0.09158|0.09158	0.0226|0.0226	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.34030|0.34030	-0.9845|-0.9845	6|10	0.87932|0.13853	D|T	0|0.58	-1.4132|-1.4132	4.445|4.445	0.11593|0.11593	0.0:0.2695:0.3202:0.4103|0.0:0.2695:0.3202:0.4103	.|.	.|208;270	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	T|H	169|270;270;208	.|ENSP00000400451:R270H;ENSP00000353142:R270H;ENSP00000398304:R208H	ENSP00000414733:A169T|ENSP00000353142:R270H	A|R	-|-	1|2	0|0	GAL3ST4|GAL3ST4	99596139|99596139	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.145000|-0.145000	0.10265|0.10265	-0.252000|-0.252000	0.09528|0.09528	-0.424000|-0.424000	0.05967|0.05967	GCA|CGC		0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		51	151	0	0	0	1	0	51	151				
CPNE7	27132	broad.mit.edu	37	16	89655141	89655141	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89655141A>G	ENST00000268720.5	+	12	1341	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	CPNE7_ENST00000319518.8_Missense_Mutation_p.Y329C	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	404	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCCTGCACTACATCAACCCC	0.647																																						ENST00000268720.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17						c.(1210-1212)tAc>tGc		copine VII							152.0	111.0	125.0					16																	89655141		2197	4299	6496	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89655141A>G	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1211A>G	16.37:g.89655141A>G	ENSP00000268720:p.Tyr404Cys					CPNE7_ENST00000319518.8_Missense_Mutation_p.Y329C	p.Y404C	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	12	1341	+		all_hematologic(23;0.0748)	404			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1211A>G	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	A	9.733	1.162696	0.21538	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.23950	1.88;1.88;1.88	3.75	3.75	0.43078	von Willebrand factor, type A (2);Copine (1);	0.063133	0.64402	D	0.000003	T	0.57446	0.2054	M	0.93854	3.465	0.47547	D	0.99945	D;P	0.71674	0.998;0.884	D;P	0.66847	0.947;0.744	T	0.68183	-0.5476	10	0.54805	T	0.06	-15.9125	12.4086	0.55453	1.0:0.0:0.0:0.0	.	329;404	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	C	329;404;49	ENSP00000317374:Y329C;ENSP00000268720:Y404C;ENSP00000435876:Y49C	ENSP00000268720:Y404C	Y	+	2	0	CPNE7	88182642	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	6.714000	0.74692	1.449000	0.47699	0.260000	0.18958	TAC		0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			9	27	0	0	0	1	0	9	27				
UGDH	7358	broad.mit.edu	37	4	39510268	39510268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39510268C>T	ENST00000316423.6	-	7	1166	c.824G>A	c.(823-825)aGc>aAc	p.S275N	UGDH_ENST00000515398.1_5'Flank|UGDH_ENST00000506179.1_Missense_Mutation_p.S275N|UGDH_ENST00000501493.2_Missense_Mutation_p.S208N|UGDH_ENST00000507089.1_Missense_Mutation_p.S178N	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	275					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTGGAAACAGCTCCCACCAAA	0.358																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(823-825)aGc>aAc		UDP-glucose 6-dehydrogenase	NADH(DB00157)						66.0	71.0	69.0					4																	39510268		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39510268C>T	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.824G>A	4.37:g.39510268C>T	ENSP00000319501:p.Ser275Asn					UGDH_ENST00000506179.1_Missense_Mutation_p.S275N|UGDH_ENST00000501493.2_Missense_Mutation_p.S208N|UGDH_ENST00000507089.1_Missense_Mutation_p.S178N	p.S275N	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			7	1166	-			275					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.824G>A	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540711	0.85917	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;T;D;D	0.84873	-1.9;-1.3;-1.9;-1.91	5.57	4.73	0.59995	UDP-glucose/GDP-mannose dehydrogenase, dimerisation (1);NAD(P)-binding domain (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.95586	0.8565	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.96821	0.9604	10	0.87932	D	0	1.9809	13.3723	0.60719	0.0:0.9249:0.0:0.0751	.	208;275	B3KUU2;O60701	.;UGDH_HUMAN	N	275;208;275;178	ENSP00000319501:S275N;ENSP00000422909:S208N;ENSP00000421757:S275N;ENSP00000426560:S178N	ENSP00000319501:S275N	S	-	2	0	UGDH	39186663	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.397000	0.79903	1.360000	0.45960	0.655000	0.94253	AGC		0.358	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		22	36	0	0	0	1	0	22	36				
SCN10A	6336	broad.mit.edu	37	3	38766687	38766687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38766687G>A	ENST00000449082.2	-	17	3205	c.3206C>T	c.(3205-3207)tCt>tTt	p.S1069F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1069					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGAGGAACAGACTCATCTTT	0.602																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3205-3207)tCt>tTt		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						77.0	75.0	76.0					3																	38766687		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38766687G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3206C>T	3.37:g.38766687G>A	ENSP00000390600:p.Ser1069Phe						p.S1069F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3205	-			1069					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3206C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198116	0.22037	.	.	ENSG00000185313	ENST00000449082	D	0.84730	-1.89	4.59	-0.939	0.10408	Sodium ion transport-associated (1);	48.182800	0.00166	N	0.000000	T	0.71913	0.3396	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.09377	0.004	T	0.62421	-0.6858	10	0.66056	D	0.02	.	6.793	0.23709	0.0925:0.0:0.2829:0.6246	.	1069	Q9Y5Y9	SCNAA_HUMAN	F	1069	ENSP00000390600:S1069F	ENSP00000390600:S1069F	S	-	2	0	SCN10A	38741691	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.460000	0.21924	-0.061000	0.13110	-0.320000	0.08662	TCT		0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		11	21	0	0	0	1	0	11	21				
ATG9B	285973	broad.mit.edu	37	7	150714325	150714325	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714325G>T	ENST00000377974.2	-	9	2162	c.2087C>A	c.(2086-2088)tCt>tAt	p.S696Y	ATG9B_ENST00000605938.1_Missense_Mutation_p.S696Y|ATG9B_ENST00000444312.1_Missense_Mutation_p.S182Y|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	696					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACGCTGAGACAGCGAGGC	0.592																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2086-2088)tCt>tAt		autophagy related 9B							29.0	33.0	32.0					7																	150714325		2062	4208	6270	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150714325G>T	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2087C>A	7.37:g.150714325G>T	ENSP00000475005:p.Ser696Tyr					ATG9B_ENST00000377974.2_Missense_Mutation_p.S696Y|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.S182Y	p.S696Y	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2162	-	all_neural(206;0.219)		696					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2087C>A		.	.	.	.	.	.	.	.	.	.	G	12.84	2.057550	0.36277	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.08	4.19	0.49359	.	0.130074	0.53938	D	0.000050	T	0.23330	0.0564	.	.	.	.	.	.	B	0.09022	0.002	B	0.06405	0.002	T	0.26710	-1.0095	7	0.02654	T	1	-2.7246	10.6464	0.45623	0.0:0.0:0.6517:0.3483	.	696	Q674R7	ATG9B_HUMAN	Y	696;182;696	.	ENSP00000444232:S696Y	S	-	2	0	AC010973.1	150345258	1.000000	0.71417	0.478000	0.27316	0.568000	0.35870	4.810000	0.62598	1.109000	0.41680	0.491000	0.48974	TCT		0.592	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		13	14	1	0	9.31168e-06	1	1.06029e-05	13	14				
PDPR	55066	broad.mit.edu	37	16	70177557	70177557	+	Missense_Mutation	SNP	C	C	T	rs373100147		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70177557C>T	ENST00000288050.4	+	14	2707	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_5'Flank|PDPR_ENST00000398122.3_Missense_Mutation_p.R484C|PDPR_ENST00000568530.1_Missense_Mutation_p.R584C|PDPR_ENST00000567046.1_5'Flank	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	584					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ACTGAACAAGCGCAGGTGAGA	0.557																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(1750-1752)Cgc>Tgc		pyruvate dehydrogenase phosphatase regulatory subunit		C	CYS/ARG	0,4036		0,0,2018	65.0	69.0	68.0		1750	4.7	1.0	16		68	1,8381		0,1,4190	no	missense	PDPR	NM_017990.3	180	0,1,6208	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging	584/880	70177557	1,12417	2018	4191	6209	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70177557C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1750C>T	16.37:g.70177557C>T	ENSP00000288050:p.Arg584Cys					PDPR_ENST00000398122.3_Missense_Mutation_p.R484C|PDPR_ENST00000568530.1_Missense_Mutation_p.R584C|PDPR_ENST00000562100.1_3'UTR	p.R584C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	14	2707	+			584					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1750C>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286524	0.80803	0.0	1.19E-4	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	D;D	0.83506	-1.73;-1.73	4.67	4.67	0.58626	Glycine cleavage T-protein, N-terminal (1);	0.102480	0.64402	D	0.000002	D	0.85182	0.5638	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.968	D;P	0.63192	0.912;0.697	D	0.87114	0.2187	10	0.62326	D	0.03	.	16.9147	0.86148	0.0:1.0:0.0:0.0	.	312;584	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	C	584;484;312	ENSP00000288050:R584C;ENSP00000381190:R484C	ENSP00000205055:R312C	R	+	1	0	PDPR	68735058	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.184000	0.58323	2.306000	0.77630	0.462000	0.41574	CGC		0.557	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		4	30	0	0	0	1	0	4	30				
ITFG2	55846	broad.mit.edu	37	12	2933326	2933326	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2933326G>A	ENST00000228799.2	+	12	1450	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	ITFG2_ENST00000419778.2_Silent_p.Q260Q|ITFG2_ENST00000542548.1_Silent_p.Q325Q	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	437					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCACCACAGTGTGCTCCCT	0.567																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(1309-1311)caG>caA		integrin alpha FG-GAP repeat containing 2							147.0	127.0	133.0					12																	2933326		2203	4300	6503	SO:0001819	synonymous_variant	55846							g.chr12:2933326G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1311G>A	12.37:g.2933326G>A						ITFG2_ENST00000542548.1_Silent_p.Q325Q|ITFG2_ENST00000419778.2_Silent_p.Q260Q	p.Q437Q	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		12	1450	+			437					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	37	c.1311G>A	CCDS8513.1																																																																																				0.567	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		4	45	0	0	0	1	0	4	45				
DMD	1756	broad.mit.edu	37	X	32429869	32429869	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32429869C>A	ENST00000357033.4	-	30	4439	c.4233G>T	c.(4231-4233)caG>caT	p.Q1411H	DMD_ENST00000378677.2_Splice_Site_p.Q1407H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1411					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTACTTGCCTGGGCTTCCT	0.398																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.e30+1		dystrophin							103.0	75.0	85.0					X																	32429869		2202	4300	6502	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32429869C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4233+1G>T	X.37:g.32429869C>A						DMD_ENST00000378677.2_Splice_Site_p.Q1407_splice	p.Q1411_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			30	4439	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1411					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.4233_splice	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100767	0.76983	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.22134	1.97;1.97	5.68	5.68	0.88126	.	0.000000	0.33712	U	0.004638	T	0.50257	0.1605	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;0.99;0.99;0.99	D;D;D;D;D	0.87578	0.991;0.998;0.979;0.979;0.979	T	0.48779	-0.9005	9	.	.	.	.	18.7838	0.91946	0.0:1.0:0.0:0.0	.	1403;1411;1407;70;67	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	H	1403;70;67;1407;1411;1411;1288	ENSP00000367948:Q1407H;ENSP00000354923:Q1411H	.	Q	-	3	2	DMD	32339790	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.649000	0.54417	2.381000	0.81170	0.506000	0.49869	CAG		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Missense_Mutation	4	59	1	0	0.000602214	1	0.000649039	4	59				
KCNK7	10089	broad.mit.edu	37	11	65366003	65366003	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65366003C>T	ENST00000340313.4	-	0	0				MAP3K11_ENST00000530153.1_Missense_Mutation_p.R511Q|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R768Q|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000532507.1_Missense_Mutation_p.R184Q|KCNK7_ENST00000394216.2_5'Flank|KCNK7_ENST00000342202.4_5'Flank|KCNK7_ENST00000394217.2_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GGGCGAGGGCCGAGGTCGGCT	0.682																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2302-2304)cGg>cAg		mitogen-activated protein kinase kinase kinase 11							31.0	25.0	27.0					11																	65366003		2199	4295	6494	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65366003C>T	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65366003C>T	Exception_encountered					MAP3K11_ENST00000530153.1_Missense_Mutation_p.R511Q|MAP3K11_ENST00000532507.1_Missense_Mutation_p.R184Q	p.R768Q	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			10	2788	-			768			Pro-rich.		Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.2303G>A	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316266	0.95655	.	.	ENSG00000173327	ENST00000309100;ENST00000532507;ENST00000530153	T;T	0.77620	-0.94;-1.11	5.6	5.6	0.85130	.	0.252874	0.30723	N	0.009014	T	0.81451	0.4825	N	0.22421	0.69	0.40730	D	0.982731	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	D	0.84001	0.0343	10	0.66056	D	0.02	.	17.0718	0.86576	0.0:1.0:0.0:0.0	.	257;768	B3KQY4;Q16584	.;M3K11_HUMAN	Q	768;184;511	ENSP00000309597:R768Q;ENSP00000433886:R511Q	ENSP00000309597:R768Q	R	-	2	0	MAP3K11	65122579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.210000	0.65214	2.633000	0.89246	0.655000	0.94253	CGG		0.682	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		9	11	0	0	0	1	0	9	11				
DDHD2	23259	broad.mit.edu	37	8	38099780	38099780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099780G>A	ENST00000397166.2	+	7	1250	c.725G>A	c.(724-726)cGc>cAc	p.R242H	DDHD2_ENST00000520272.2_Missense_Mutation_p.R242H|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	242					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AATGATTTTCGCAGTGTTTCC	0.358																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(724-726)cGc>cAc		DDHD domain containing 2							84.0	83.0	83.0					8																	38099780		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38099780G>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.725G>A	8.37:g.38099780G>A	ENSP00000380352:p.Arg242His					DDHD2_ENST00000520272.2_Missense_Mutation_p.R242H|DDHD2_ENST00000528888.1_3'UTR	p.R242H	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		7	1250	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	242					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.725G>A	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.95|18.95	3.731673|3.731673	0.69189|0.69189	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000532106|ENST00000397166;ENST00000532222;ENST00000520272;ENST00000440212	.|T;T;T	.|0.60040	.|1.07;0.22;1.07	5.48|5.48	4.58|4.58	0.56647|0.56647	.|.	.|0.056769	.|0.64402	.|D	.|0.000002	T|T	0.59046|0.59046	0.2165|0.2165	M|M	0.77712|0.77712	2.385|2.385	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52316	.|0.952;0.812	.|P;B	.|0.44518	.|0.452;0.317	T|T	0.64206|0.64206	-0.6462|-0.6462	5|10	.|0.72032	.|D	.|0.01	-10.6745|-10.6745	8.191|8.191	0.31368|0.31368	0.0783:0.0:0.7637:0.158|0.0783:0.0:0.7637:0.158	.|.	.|54;242	.|B4DSR3;O94830	.|.;DDHD2_HUMAN	T|H	35|242;212;242;54	.|ENSP00000380352:R242H;ENSP00000433578:R212H;ENSP00000429932:R242H	.|ENSP00000380352:R242H	A|R	+|+	1|2	0|0	DDHD2|DDHD2	38218937|38218937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.840000|7.840000	0.86819|0.86819	1.260000|1.260000	0.44134|0.44134	0.467000|0.467000	0.42956|0.42956	GCA|CGC		0.358	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		16	29	0	0	0	1	0	16	29				
TCEB3C	162699	broad.mit.edu	37	18	44555163	44555163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44555163C>T	ENST00000330682.2	-	1	1286	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	351	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCGCCGAGGGCGTCCGGATTG	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1051-1053)Gcc>Acc		transcription elongation factor B polypeptide 3C (elongin A3)							76.0	73.0	74.0					18																	44555163		1694	3396	5090	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555163C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1051G>A	18.37:g.44555163C>T	ENSP00000328232:p.Ala351Thr					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.A351T	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1286	-			351			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1051G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	9.275	1.046771	0.19748	.	.	ENSG00000183791	ENST00000330682	T	0.12465	2.68	1.6	-3.21	0.05140	.	1.340440	0.05182	N	0.501457	T	0.08670	0.0215	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26677	-1.0096	10	0.29301	T	0.29	-1.3321	0.4586	0.00512	0.1966:0.228:0.1638:0.4115	.	351	Q8NG57	ELOA3_HUMAN	T	351	ENSP00000328232:A351T	ENSP00000328232:A351T	A	-	1	0	TCEB3C	42809161	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-2.398000	0.01051	-3.037000	0.00264	-1.417000	0.01113	GCC		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		14	555	0	0	0	1	0	14	555				
ICE1	23379	broad.mit.edu	37	5	5464275	5464275	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464275A>G	ENST00000296564.7	+	13	5050	c.4828A>G	c.(4828-4830)Aca>Gca	p.T1610A		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1610					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAATGCTGATACATCCACTCC	0.448																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4828-4830)Aca>Gca		KIAA0947							61.0	63.0	62.0					5																	5464275		1917	4134	6051	SO:0001583	missense	23379							g.chr5:5464275A>G																												ENST00000296564.7:c.4828A>G	5.37:g.5464275A>G	ENSP00000296564:p.Thr1610Ala						p.T1610A	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	5050	+			1610					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4828A>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635314	0.67130	.	.	ENSG00000164151	ENST00000296564	T	0.10960	2.82	5.27	5.27	0.74061	.	.	.	.	.	T	0.19604	0.0471	L	0.44542	1.39	0.09310	N	0.999997	D	0.56035	0.974	P	0.54499	0.754	T	0.05683	-1.0870	9	0.52906	T	0.07	-1.4115	13.135	0.59403	1.0:0.0:0.0:0.0	.	1610	Q9Y2F5	K0947_HUMAN	A	1610	ENSP00000296564:T1610A	ENSP00000296564:T1610A	T	+	1	0	KIAA0947	5517275	0.998000	0.40836	0.038000	0.18304	0.954000	0.61252	2.761000	0.47589	1.984000	0.57885	0.377000	0.23210	ACA		0.448	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			5	54	0	0	0	1	0	5	54				
TRRAP	8295	broad.mit.edu	37	7	98515137	98515137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515137G>A	ENST00000359863.4	+	20	2666	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	TRRAP_ENST00000446306.3_Silent_p.S818S|TRRAP_ENST00000355540.3_Silent_p.S819S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	819					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGAGCTCGCTTTTGCCGT	0.572																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2455-2457)tcG>tcA		transformation/transcription domain-associated protein							156.0	128.0	137.0					7																	98515137		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98515137G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2457G>A	7.37:g.98515137G>A						TRRAP_ENST00000355540.3_Silent_p.S819S|TRRAP_ENST00000446306.3_Silent_p.S818S	p.S819S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2666	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		819					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2457G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226766	0.01518	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.45776	0.1359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62464	-0.6849	4	.	.	.	.	8.8418	0.35146	0.1198:0.3236:0.4667:0.0899	.	.	.	.	H	534	.	.	R	+	2	0	TRRAP	98353073	0.000000	0.05858	0.087000	0.20705	0.039000	0.13416	-3.005000	0.00650	-3.654000	0.00126	-1.556000	0.00890	CGC		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		19	70	0	0	0	1	0	19	70				
UBC	7316	broad.mit.edu	37	12	125396346	125396346	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125396346G>T	ENST00000538617.1	-	4	1148	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.L658M|UBC_ENST00000546120.1_Missense_Mutation_p.L582M|UBC_ENST00000536769.1_Missense_Mutation_p.L658M			P0CG48	UBC_HUMAN	ubiquitin C	658	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCATCTTCCAGCTGTTTCCCA	0.517																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1972-1974)Ctg>Atg		ubiquitin C							143.0	132.0	136.0					12																	125396346		2203	4297	6500	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125396346G>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.832C>A	12.37:g.125396346G>T	ENSP00000443053:p.Leu278Met					UBC_ENST00000339647.5_Missense_Mutation_p.L658M|UBC_ENST00000546120.1_Missense_Mutation_p.L582M|UBC_ENST00000538617.1_Missense_Mutation_p.L278M	p.L658M			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	3548	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		658			Ubiquitin-like 9.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37	c.1972C>A		.	.	.	.	.	.	.	.	.	.	G	15.79	2.938774	0.52972	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.28	5.28	0.74379	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	.	.	.	.	D	0.92247	0.7541	L	0.55103	1.725	0.53688	D	0.999975	D;D;D	0.89917	0.968;1.0;0.999	D;D;D	0.87578	0.992;0.987;0.998	D	0.92912	0.6348	9	0.87932	D	0	.	18.9103	0.92481	0.0:0.0:1.0:0.0	.	671;506;658	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	M	658;506;278;582;658;582;126	ENSP00000441543:L658M;ENSP00000443053:L278M;ENSP00000344818:L658M;ENSP00000438394:L582M	ENSP00000344818:L658M	L	-	1	2	UBC	123962299	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	4.178000	0.58284	2.471000	0.83476	0.462000	0.41574	CTG		0.517	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		6	146	1	0	0.0215528	1	0.0221649	6	146				
TGFBRAP1	9392	broad.mit.edu	37	2	105885808	105885808	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105885808T>C	ENST00000393359.2	-	11	2753	c.2327A>G	c.(2326-2328)gAc>gGc	p.D776G	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D776G			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	776					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGGATGCTGTCCCTCATGGC	0.602																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(2326-2328)gAc>gGc		transforming growth factor, beta receptor associated protein 1							43.0	42.0	42.0					2																	105885808		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105885808T>C	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2327A>G	2.37:g.105885808T>C	ENSP00000377027:p.Asp776Gly					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D776G	p.D776G			Q8WUH2	TGFA1_HUMAN			11	2753	-			776					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.2327A>G	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	T	9.030	0.987010	0.18889	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.42900	0.96;0.96	5.36	0.341	0.15991	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.519417	0.23096	N	0.051970	T	0.27384	0.0672	L	0.34521	1.04	0.28826	N	0.897381	B;B	0.02656	0.0;0.0	B;B	0.10450	0.0;0.005	T	0.18903	-1.0322	10	0.23302	T	0.38	-10.9711	9.361	0.38195	0.0:0.2716:0.0:0.7284	.	231;776	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	G	776;776;231	ENSP00000377027:D776G;ENSP00000258449:D776G	ENSP00000258449:D776G	D	-	2	0	TGFBRAP1	105252240	1.000000	0.71417	0.019000	0.16419	0.370000	0.29829	2.739000	0.47409	-0.099000	0.12263	-0.411000	0.06167	GAC		0.602	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		10	17	0	0	0	1	0	10	17				
C22orf29	79680	broad.mit.edu	37	22	19839537	19839537	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19839537G>T	ENST00000405640.1	-	2	916	c.248C>A	c.(247-249)gCt>gAt	p.A83D	C22orf29_ENST00000328554.4_Missense_Mutation_p.A83D|C22orf29_ENST00000407472.1_Missense_Mutation_p.A83D|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	83					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CATGTGCCCAGCTAGGGGACC	0.632																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(247-249)gCt>gAt		chromosome 22 open reading frame 29							54.0	54.0	54.0					22																	19839537		2203	4299	6502	SO:0001583	missense	79680							g.chr22:19839537G>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.248C>A	22.37:g.19839537G>T	ENSP00000384924:p.Ala83Asp					GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.A83D|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.A83D|GNB1L_ENST00000460402.1_Intron	p.A83D			Q7L3V2	CV029_HUMAN			2	916	-	Colorectal(54;0.0993)		83					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.248C>A	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	G	5.748	0.322461	0.10900	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640;ENST00000416337	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	3.29	2.25	0.28309	.	.	.	.	.	T	0.23210	0.0561	L	0.29908	0.895	0.09310	N	1	P	0.37636	0.603	B	0.38378	0.272	T	0.14008	-1.0488	9	0.72032	D	0.01	.	8.523	0.33287	0.0:0.2381:0.7619:0.0	.	83	Q7L3V2	CV029_HUMAN	D	83	ENSP00000386111:A83D;ENSP00000330596:A83D;ENSP00000384924:A83D;ENSP00000392994:A83D	ENSP00000330596:A83D	A	-	2	0	C22orf29	18219537	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.179000	0.16840	0.952000	0.37798	-0.176000	0.13171	GCT		0.632	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		6	60	1	0	2.7689e-08	1	3.31013e-08	6	60				
SVIL	6840	broad.mit.edu	37	10	29818634	29818634	+	Splice_Site	SNP	G	G	A	rs146446036	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29818634G>A	ENST00000355867.4	-	12	2998	c.2246C>T	c.(2245-2247)aCt>aTt	p.T749I	SVIL_ENST00000375400.3_Splice_Site_p.T355I|SVIL_ENST00000375398.2_Splice_Site_p.T749I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	749					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCACTTACGTGGCTGCGAT	0.493													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17131	0.001		0.0	False		,,,				2504	0.0					ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.e14+1		supervillin		G	ILE/THR,ILE/THR	6,4400	11.4+/-27.6	0,6,2197	109.0	94.0	99.0		1064,2246	5.4	1.0	10	dbSNP_134	99	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice	SVIL	NM_003174.3,NM_021738.2	89,89	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging	355/1789,749/2215	29818634	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29818634G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2246+1C>T	10.37:g.29818634G>A						SVIL_ENST00000355867.4_Splice_Site_p.T749_splice|SVIL_ENST00000375400.3_Splice_Site_p.T355_splice	p.T749_splice			O95425	SVIL_HUMAN			14	2695	-		Breast(68;0.103)	749					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Splice_Site	SNP	ENST00000355867.4	37	c.2246_splice	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118928	0.77323	0.001362	0.0	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.51325	0.71;0.71;0.71	5.41	5.41	0.78517	.	0.092878	0.64402	D	0.000001	T	0.67449	0.2894	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.64588	-0.6372	9	.	.	.	-15.0354	19.571	0.95419	0.0:0.0:1.0:0.0	.	355;749	O95425-2;O95425	.;SVIL_HUMAN	I	355;749;749	ENSP00000364549:T355I;ENSP00000364547:T749I;ENSP00000348128:T749I	.	T	-	2	0	SVIL	29858640	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.356000	0.79445	2.709000	0.92574	0.655000	0.94253	ACA;ACT;ACT		0.493	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		Missense_Mutation	6	28	0	0	0	1	0	6	28				
G6PC	2538	broad.mit.edu	37	17	41063057	41063057	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41063057C>A	ENST00000253801.2	+	5	767	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	230					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTCAAGGGACTGGGTGTAGA	0.512																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(688-690)Ctg>Atg		glucose-6-phosphatase, catalytic subunit							96.0	81.0	86.0					17																	41063057		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063057C>A	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.688C>A	17.37:g.41063057C>A	ENSP00000253801:p.Leu230Met					G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	p.L230M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	767	+		Breast(137;0.000143)	230					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.688C>A	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.802011	0.31869	.	.	ENSG00000131482	ENST00000253801	T	0.79653	-1.29	4.96	0.58	0.17402	.	0.248047	0.32970	N	0.005422	T	0.72590	0.3479	M	0.70595	2.14	0.48696	D	0.999691	B	0.34372	0.451	B	0.30179	0.112	T	0.68907	-0.5285	10	0.54805	T	0.06	.	5.8507	0.18691	0.1263:0.5336:0.0:0.3401	.	230	P35575	G6PC_HUMAN	M	230	ENSP00000253801:L230M	ENSP00000253801:L230M	L	+	1	2	G6PC	38316583	0.002000	0.14202	0.983000	0.44433	0.498000	0.33706	0.038000	0.13862	0.682000	0.31407	0.557000	0.71058	CTG		0.512	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		18	44	1	0	5.03518e-11	1	6.25324e-11	18	44				
EHMT1	79813	broad.mit.edu	37	9	140685395	140685395	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140685395C>T	ENST00000460843.1	+	16	2505	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.I795I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	826					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGTACCTCATCAAGGCTGGGG	0.527																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2476-2478)atC>atT		euchromatic histone-lysine N-methyltransferase 1							123.0	110.0	115.0					9																	140685395		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140685395C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2478C>T	9.37:g.140685395C>T						EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.I795I	p.I826I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	16	2505	+	all_cancers(76;0.164)		826					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.2478C>T	CCDS7050.2																																																																																				0.527	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		7	68	0	0	0	1	0	7	68				
USP15	9958	broad.mit.edu	37	12	62786882	62786882	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62786882T>G	ENST00000280377.5	+	19	2528	c.2470T>G	c.(2470-2472)Tta>Gta	p.L824V	USP15_ENST00000353364.3_Missense_Mutation_p.L795V|USP15_ENST00000393654.3_Missense_Mutation_p.L799V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	824	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAAATTGGATTTATGGTCCCT	0.378																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2470-2472)Tta>Gta		ubiquitin specific peptidase 15							147.0	140.0	142.0					12																	62786882		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62786882T>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2470T>G	12.37:g.62786882T>G	ENSP00000280377:p.Leu824Val					USP15_ENST00000353364.3_Missense_Mutation_p.L795V|USP15_ENST00000393654.3_Missense_Mutation_p.L799V	p.L824V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	19	2528	+			824					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.2470T>G	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845423	0.71603	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.86	2.34	0.29019	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.157146	0.41938	D	0.000789	T	0.44891	0.1315	L	0.41236	1.265	0.47037	D	0.999296	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.998	T	0.17961	-1.0352	9	.	.	.	-8.28	8.1891	0.31357	0.0:0.2881:0.0:0.7119	.	824;795	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	795;824;799;26	ENSP00000258123:L795V;ENSP00000280377:L824V;ENSP00000377264:L799V;ENSP00000448372:L26V	.	L	+	1	2	USP15	61073149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.146000	0.31589	0.500000	0.27991	0.533000	0.62120	TTA		0.378	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		11	77	0	0	0	1	0	11	77				
EPPK1	83481	broad.mit.edu	37	8	144947320	144947320	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947320C>T	ENST00000525985.1	-	2	173	c.102G>A	c.(100-102)acG>acA	p.T34T				P58107	EPIPL_HUMAN	epiplakin 1	34						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTGGGGGGCGTGCCGGCTC	0.687																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(100-102)acG>acA		epiplakin 1							20.0	28.0	25.0					8																	144947320		2110	4215	6325	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947320C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.102G>A	8.37:g.144947320C>T							p.T34T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	173	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		34					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.102G>A																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		14	24	0	0	0	1	0	14	24				
KRT8	3856	broad.mit.edu	37	12	53293758	53293758	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53293758G>T	ENST00000552551.1	-	6	1214	c.782C>A	c.(781-783)gCt>gAt	p.A261D	KRT8_ENST00000293308.6_Missense_Mutation_p.A261D|KRT8_ENST00000552150.1_Missense_Mutation_p.A289D|KRT8_ENST00000546897.1_Missense_Mutation_p.A261D			P05787	K2C8_HUMAN	keratin 8	261	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CTTGACCTCAGCAATGATGCT	0.592																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(781-783)gCt>gAt		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						52.0	47.0	49.0					12																	53293758		2202	4299	6501	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53293758G>T	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.782C>A	12.37:g.53293758G>T	ENSP00000447566:p.Ala261Asp					KRT8_ENST00000546897.1_Missense_Mutation_p.A261D|KRT8_ENST00000293308.6_Missense_Mutation_p.A261D|KRT8_ENST00000552150.1_Missense_Mutation_p.A289D	p.A261D			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1214	-			261			Coil 2.|Necessary for interaction with PNN.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.782C>A	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791401	0.50102	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826	T;T;T;T;D	0.89343	-1.15;-1.15;-1.15;-1.15;-2.5	4.71	3.8	0.43715	Filament (1);	0.115653	0.56097	D	0.000023	D	0.93161	0.7822	M	0.75447	2.3	0.80722	D	1	D;D;D	0.59767	0.983;0.965;0.986	D;P;D	0.66979	0.927;0.881;0.948	D	0.93356	0.6722	10	0.56958	D	0.05	.	13.5433	0.61688	0.0:0.0:0.8425:0.1575	.	289;261;261	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	D	261;261;261;261;289;261	ENSP00000447566:A261D;ENSP00000293308:A261D;ENSP00000447402:A261D;ENSP00000449404:A289D;ENSP00000447881:A261D	ENSP00000293308:A261D	A	-	2	0	KRT8	51580025	0.994000	0.37717	0.085000	0.20634	0.157000	0.22087	4.011000	0.57124	1.265000	0.44215	0.555000	0.69702	GCT		0.592	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		11	24	1	0	1.49906e-05	1	1.69169e-05	11	24				
NAV2	89797	broad.mit.edu	37	11	20124899	20124899	+	Silent	SNP	C	C	T	rs138671489	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20124899C>T	ENST00000396087.3	+	36	6792	c.6693C>T	c.(6691-6693)caC>caT	p.H2231H	NAV2_ENST00000396085.1_Silent_p.H2175H|NAV2_ENST00000360655.4_Silent_p.H2108H|NAV2_ENST00000349880.4_Silent_p.H2172H|NAV2_ENST00000533917.1_Silent_p.H1236H|NAV2_ENST00000540292.1_Silent_p.H2162H|NAV2_ENST00000527559.2_Silent_p.H2160H|NAV2_ENST00000311043.8_Silent_p.H1236H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2231					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCTACACCACGTGAGCTCTC	0.542																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6523-6525)caC>caT		neuron navigator 2		C	,,,	1,4405	2.1+/-5.4	0,1,2202	178.0	144.0	156.0		6324,3708,6516,6525	-2.6	1.0	11	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,	2108/2366,1236/1494,2172/2430,2175/2433	20124899	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20124899C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6693C>T	11.37:g.20124899C>T						NAV2_ENST00000396087.3_Silent_p.H2231H|NAV2_ENST00000540292.1_Silent_p.H2162H|NAV2_ENST00000533917.1_Silent_p.H1236H|NAV2_ENST00000527559.2_Silent_p.H2160H|NAV2_ENST00000360655.4_Silent_p.H2108H|NAV2_ENST00000349880.4_Silent_p.H2172H|NAV2_ENST00000311043.8_Silent_p.H1236H	p.H2175H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			34	6886	+			2231					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.6525C>T	CCDS58126.1																																																																																				0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		21	49	0	0	0	1	0	21	49				
MRPL46	26589	broad.mit.edu	37	15	89008934	89008934	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89008934T>G	ENST00000312475.4	-	2	340	c.299A>C	c.(298-300)aAg>aCg	p.K100T	MRPS11_ENST00000353598.6_5'Flank|MRPS11_ENST00000325844.4_5'Flank|MRPL46_ENST00000559538.1_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	100						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGCTTTCTTCTTTGCCAGTCG	0.423																																						ENST00000312475.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(298-300)aAg>aCg		mitochondrial ribosomal protein L46							129.0	128.0	128.0					15																	89008934		2201	4299	6500	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89008934T>G	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.299A>C	15.37:g.89008934T>G	ENSP00000312311:p.Lys100Thr						p.K100T	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	340	-	Lung NSC(78;0.203)		100					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.299A>C	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097001	0.37048	.	.	ENSG00000173867	ENST00000312475	T	0.43688	0.94	5.08	0.0774	0.14407	.	0.194210	0.53938	D	0.000050	T	0.39600	0.1084	M	0.67953	2.075	0.37346	D	0.910596	P;P	0.47191	0.891;0.801	B;P	0.46049	0.412;0.502	T	0.40308	-0.9570	10	0.21014	T	0.42	.	8.4499	0.32864	0.0:0.5807:0.0:0.4193	.	15;100	Q8TER9;Q9H2W6	.;RM46_HUMAN	T	100	ENSP00000312311:K100T	ENSP00000312311:K100T	K	-	2	0	MRPL46	86809938	0.968000	0.33430	0.991000	0.47740	0.018000	0.09664	0.432000	0.21461	-0.074000	0.12820	-0.242000	0.12053	AAG		0.423	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		11	116	0	0	0	1	0	11	116				
ADORA3	140	broad.mit.edu	37	1	112045919	112045919	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045919T>G	ENST00000241356.4	-	1	463	c.58A>C	c.(58-60)Att>Ctt	p.I20L	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.I20L|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	20					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CCAATGAAAATTTCCATGGTG	0.537																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(58-60)Att>Ctt		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						68.0	57.0	61.0					1																	112045919		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045919T>G	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.58A>C	1.37:g.112045919T>G	ENSP00000241356:p.Ile20Leu					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.I20L	p.I20L	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	463	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	20					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.58A>C	CCDS839.1	.	.	.	.	.	.	.	.	.	.	T	0.975	-0.698920	0.03279	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.32753	1.44;1.44	5.76	0.633	0.17712	.	0.462467	0.18198	N	0.148618	T	0.02571	0.0078	N	0.04959	-0.14	0.09310	N	0.999999	B;B	0.23540	0.087;0.002	B;B	0.20577	0.021;0.03	T	0.40701	-0.9549	10	0.08837	T	0.75	-7.272	2.2054	0.03934	0.1204:0.3241:0.1237:0.4318	.	20;20	P33765;P33765-2	AA3R_HUMAN;.	L	20	ENSP00000358730:I20L;ENSP00000241356:I20L	ENSP00000241356:I20L	I	-	1	0	ADORA3	111847442	0.181000	0.23161	0.432000	0.26747	0.011000	0.07611	0.828000	0.27435	0.110000	0.17919	-1.119000	0.02030	ATT		0.537	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		5	18	0	0	0	1	0	5	18				
ZNF142	7701	broad.mit.edu	37	2	219508820	219508820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508820G>T	ENST00000449707.1	-	8	2840	c.2419C>A	c.(2419-2421)Cta>Ata	p.L807I	ZNF142_ENST00000411696.2_Missense_Mutation_p.L807I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	807					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTCTCCTTAGGGCCTTGAGT	0.567																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2419-2421)Cta>Ata		zinc finger protein 142							199.0	208.0	205.0					2																	219508820		2106	4234	6340	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508820G>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2419C>A	2.37:g.219508820G>T	ENSP00000408643:p.Leu807Ile					ZNF142_ENST00000449707.1_Missense_Mutation_p.L807I	p.L807I			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3198	-		Renal(207;0.0474)	807					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2419C>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726739	0.15439	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.21543	2.0;2.0	5.07	3.2	0.36748	.	0.144588	0.48286	D	0.000197	T	0.12347	0.0300	L	0.32530	0.975	0.20926	N	0.99983	P;P	0.44690	0.841;0.748	B;B	0.35607	0.206;0.206	T	0.14476	-1.0471	10	0.33940	T	0.23	-18.1122	7.5416	0.27742	0.0756:0.0:0.6149:0.3096	.	807;644	P52746;A8MWU9	ZN142_HUMAN;.	I	807	ENSP00000408643:L807I;ENSP00000398798:L807I	ENSP00000398798:L807I	L	-	1	2	ZNF142	219217064	0.974000	0.33945	0.064000	0.19789	0.170000	0.22686	1.220000	0.32491	0.666000	0.31087	-0.181000	0.13052	CTA		0.567	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		61	124	1	0	7.59065e-32	1	1.01804e-31	61	124				
ACOX3	8310	broad.mit.edu	37	4	8407741	8407741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8407741C>T	ENST00000356406.5	-	7	794	c.717G>A	c.(715-717)atG>atA	p.M239I	ACOX3_ENST00000503233.1_Missense_Mutation_p.M239I|ACOX3_ENST00000413009.2_Missense_Mutation_p.M239I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	239					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCACTCCAGGCATGGGAAGAA	0.488																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(715-717)atG>atA		acyl-CoA oxidase 3, pristanoyl							165.0	163.0	164.0					4																	8407741		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8407741C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.717G>A	4.37:g.8407741C>T	ENSP00000348775:p.Met239Ile					ACOX3_ENST00000503233.1_Missense_Mutation_p.M239I|ACOX3_ENST00000413009.2_Missense_Mutation_p.M239I	p.M239I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			7	794	-			239					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.717G>A	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646431	0.29246	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.62364	0.03;0.03;0.03	4.5	4.5	0.54988	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.169022	0.49305	D	0.000143	T	0.67306	0.2879	M	0.80746	2.51	0.50171	D	0.999857	B;B;B	0.28605	0.215;0.217;0.215	B;B;B	0.31946	0.04;0.138;0.04	T	0.72014	-0.4418	10	0.66056	D	0.02	-25.4358	16.4745	0.84128	0.0:1.0:0.0:0.0	.	239;239;239	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	I	239	ENSP00000413994:M239I;ENSP00000348775:M239I;ENSP00000421625:M239I	ENSP00000348775:M239I	M	-	3	0	ACOX3	8458641	1.000000	0.71417	0.996000	0.52242	0.409000	0.31022	2.964000	0.49192	2.489000	0.83994	0.467000	0.42956	ATG		0.488	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			60	87	0	0	0	1	0	60	87				
LAMB4	22798	broad.mit.edu	37	7	107707029	107707029	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107707029A>T	ENST00000388781.3	-	20	2546	c.2463T>A	c.(2461-2463)ccT>ccA	p.P821P	LAMB4_ENST00000205386.4_Silent_p.P821P|LAMB4_ENST00000388780.3_Silent_p.P821P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	821	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGATCCTTGAGGATGGCAGT	0.537																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2461-2463)ccT>ccA		laminin, beta 4							41.0	38.0	39.0					7																	107707029		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107707029A>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2463T>A	7.37:g.107707029A>T						LAMB4_ENST00000388780.3_Silent_p.P821P|LAMB4_ENST00000205386.4_Silent_p.P821P	p.P821P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			20	2546	-			821			Laminin EGF-like 7.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.2463T>A	CCDS34732.1																																																																																				0.537	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		4	24	0	0	0	1	0	4	24				
ZNF761	388561	broad.mit.edu	37	19	53959491	53959491	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959491C>A	ENST00000454407.1	+	0	2183							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAGAGAACCCTTACAAATGT	0.383																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							94.0	96.0	95.0					19																	53959491		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959491C>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959491C>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2183	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		38	50	1	0	6.05902e-23	1	8.00884e-23	38	50				
SMAD9	4093	broad.mit.edu	37	13	37446850	37446850	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37446850G>A	ENST00000399275.2	-	2	754	c.615C>T	c.(613-615)agC>agT	p.S205S	SMAD9_ENST00000350148.5_Silent_p.S205S|SMAD9_ENST00000379826.4_Silent_p.S205S			O15198	SMAD9_HUMAN	SMAD family member 9	205					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGTGAGGGTAGCTGGCCGTGC	0.577																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(613-615)agC>agT		SMAD family member 9							120.0	104.0	109.0					13																	37446850		2203	4300	6503	SO:0001819	synonymous_variant	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37446850G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.615C>T	13.37:g.37446850G>A						SMAD9_ENST00000350148.5_Silent_p.S205S|SMAD9_ENST00000399275.2_Silent_p.S205S	p.S205S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	3	957	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	205					A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	c.615C>T	CCDS45032.1																																																																																				0.577	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		20	25	0	0	0	1	0	20	25				
GPR113	165082	broad.mit.edu	37	2	26534792	26534792	+	Missense_Mutation	SNP	C	C	T	rs147071305		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26534792C>T	ENST00000311519.1	-	11	1803	c.1804G>A	c.(1804-1806)Gcc>Acc	p.A602T	GPR113_ENST00000541401.1_Missense_Mutation_p.A205T|GPR113_ENST00000333478.6_Missense_Mutation_p.A403T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.A533T	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	602					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGAAGGCGAAGGGGTGG	0.642																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1207-1209)Gcc>Acc		G protein-coupled receptor 113		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	43.0	43.0	43.0		1804,1597,1207	-2.5	0.0	2	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	58,58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	602/1080,533/998,403/874	26534792	2,13004	2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534792C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1804G>A	2.37:g.26534792C>T	ENSP00000307831:p.Ala602Thr					GPR113_ENST00000541401.1_Missense_Mutation_p.A205T|GPR113_ENST00000421160.2_Missense_Mutation_p.A533T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.A602T	p.A403T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	1789	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		602					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1207G>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	3.536	-0.094644	0.07053	2.27E-4	1.16E-4	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	6.11	-2.51	0.06365	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	0.999997	B;B;B;B	0.11235	0.004;0.003;0.004;0.003	B;B;B;B	0.14023	0.01;0.006;0.01;0.006	T	0.40776	-0.9545	9	0.34782	T	0.22	-11.2259	3.3559	0.07169	0.2264:0.43:0.0729:0.2706	.	533;403;602;205	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	T	205;403;533;602	ENSP00000445729:A205T;ENSP00000327396:A403T;ENSP00000388537:A533T;ENSP00000307831:A602T	ENSP00000307831:A602T	A	-	1	0	GPR113	26388296	0.736000	0.28164	0.048000	0.18961	0.199000	0.23934	-0.170000	0.09897	-0.358000	0.08162	-1.004000	0.02495	GCC		0.642	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		4	35	0	0	0	1	0	4	35				
SCG3	29106	broad.mit.edu	37	15	51975415	51975415	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51975415G>T	ENST00000220478.3	+	4	584		c.e4-1		SCG3_ENST00000542355.2_Splice_Site	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TATTCTTCCAGAAAACAAGCC	0.343																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e4-1		secretogranin III							145.0	159.0	154.0					15																	51975415		2195	4293	6488	SO:0001630	splice_region_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975415G>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.182-1G>T	15.37:g.51975415G>T						SCG3_ENST00000542355.2_Splice_Site		NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	584	+								A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Splice_Site	SNP	ENST00000220478.3	37		CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834504	0.50951	.	.	ENSG00000104112	ENST00000220478	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5281	0.61607	0.0709:0.0:0.9291:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCG3	49762707	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	8.053000	0.89449	2.814000	0.96858	0.655000	0.94253	.		0.343	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243	Intron	21	228	1	0	7.87624e-14	1	1.00187e-13	21	228				
FLNA	2316	broad.mit.edu	37	X	153583193	153583193	+	Splice_Site	SNP	C	C	T	rs387907371		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153583193C>T	ENST00000369850.3	-	31	5453	c.5217G>A	c.(5215-5217)acG>acA	p.T1739T	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000422373.1_Splice_Site_p.T1731T|FLNA_ENST00000344736.4_Splice_Site_p.T1731T|FLNA_ENST00000360319.4_Splice_Site_p.T1731T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1739			Missing (in TOD). {ECO:0000269|PubMed:20598277}.		actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTCCTCACCGTCACTTGGA	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.e30+1		filamin A, alpha							29.0	33.0	32.0					X																	153583193		2080	4180	6260	SO:0001630	splice_region_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153583193C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5217+1G>A	X.37:g.153583193C>T						FLNA_ENST00000344736.4_Splice_Site_p.T1731_splice|FLNA_ENST00000360319.4_Splice_Site_p.T1731_splice|FLNA_ENST00000369850.3_Splice_Site_p.T1739_splice|FLNA_ENST00000369856.3_5'UTR	p.T1731_splice	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			30	5441	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1739		Missing (in TOD).			E9KL45|Q5HY53|Q5HY55|Q8NF52	Splice_Site	SNP	ENST00000369850.3	37	c.5193_splice	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640542	0.47153	.	.	ENSG00000196924	ENST00000438732	.	.	.	5.5	4.59	0.56863	.	.	.	.	.	T	0.62332	0.2419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59757	-0.7394	4	.	.	.	.	10.7048	0.45948	0.0:0.8986:0.0:0.1014	.	.	.	.	Q	22	.	.	R	-	2	0	FLNA	153236387	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.930000	0.56522	1.107000	0.41642	0.600000	0.82982	CGG		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		Silent	9	21	0	0	0	1	0	9	21				
PCNXL3	399909	broad.mit.edu	37	11	65402798	65402798	+	Missense_Mutation	SNP	G	G	A	rs371861379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65402798G>A	ENST00000355703.3	+	31	5602	c.5063G>A	c.(5062-5064)cGc>cAc	p.R1688H	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1688						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCAGCATGGCGCAGCGCCATC	0.612																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5062-5064)cGc>cAc		pecanex-like 3 (Drosophila)		G	HIS/ARG	0,4092		0,0,2046	23.0	23.0	23.0		5063	4.0	1.0	11		23	1,8353		0,1,4176	no	missense	PCNXL3	NM_032223.2	29	0,1,6222	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	1688/2035	65402798	1,12445	2046	4177	6223	SO:0001583	missense	399909					integral to membrane		g.chr11:65402798G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5063G>A	11.37:g.65402798G>A	ENSP00000347931:p.Arg1688His						p.R1688H	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			31	5602	+			1688					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5063G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739341	0.89573	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.52295	0.67	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	M	0.91406	3.205	0.45979	D	0.998793	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.80786	-0.1227	10	0.87932	D	0	.	13.7058	0.62639	0.0:0.0:1.0:0.0	.	575;1688	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1688	ENSP00000347931:R1688H	ENSP00000347931:R1688H	R	+	2	0	PCNXL3	65159374	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.146000	0.77373	2.097000	0.63578	0.462000	0.41574	CGC		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		3	3	0	0	0	1	0	3	3				
TTC12	54970	broad.mit.edu	37	11	113211391	113211391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113211391G>T	ENST00000529221.1	+	11	937	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	TTC12_ENST00000393020.1_Nonsense_Mutation_p.E278*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E278*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E284*	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	278										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTCAGGCACAGAACAAACTTT	0.443																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(832-834)Gaa>Taa		tetratricopeptide repeat domain 12							135.0	121.0	126.0					11																	113211391		2201	4296	6497	SO:0001587	stop_gained	54970						binding	g.chr11:113211391G>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.832G>T	11.37:g.113211391G>T	ENSP00000433757:p.Glu278*					TTC12_ENST00000529221.1_Nonsense_Mutation_p.E278*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E278*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E284*	p.E278*			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	11	1237	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	278					Q8N5H9|Q9NWY3	Nonsense_Mutation	SNP	ENST00000529221.1	37	c.832G>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	35	5.420886	0.96111	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000483239	.	.	.	5.22	5.22	0.72569	.	0.392990	0.27759	N	0.017975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-15.0431	16.048	0.80734	0.0:0.0:1.0:0.0	.	.	.	.	X	278;278;234;278;284	.	ENSP00000315160:E278X	E	+	1	0	TTC12	112716601	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	5.122000	0.64697	2.594000	0.87642	0.650000	0.86243	GAA		0.443	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		6	62	1	0	0.0381472	1	0.0390147	6	62				
KIFC1	3833	broad.mit.edu	37	6	33371558	33371558	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33371558C>A	ENST00000428849.2	+	6	858	c.408C>A	c.(406-408)gcC>gcA	p.A136A	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	136					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AACGTCCAGCCTGGGACTTAA	0.502																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(406-408)gcC>gcA		kinesin family member C1							69.0	67.0	68.0					6																	33371558		2203	4300	6503	SO:0001819	synonymous_variant	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371558C>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.408C>A	6.37:g.33371558C>A						KIFC1_ENST00000486695.1_3'UTR	p.A136A	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			6	858	+			136					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	ENST00000428849.2	37	c.408C>A	CCDS34430.1																																																																																				0.502	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		26	40	1	0	4.59853e-10	1	5.63411e-10	26	40				
PPFIA4	8497	broad.mit.edu	37	1	203029425	203029425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203029425G>A	ENST00000447715.2	+	27	3039	c.2598G>A	c.(2596-2598)tcG>tcA	p.S866S	PPFIA4_ENST00000414050.2_Silent_p.S595S|PPFIA4_ENST00000272198.6_Silent_p.S382S|PPFIA4_ENST00000367240.2_Silent_p.S867S|PPFIA4_ENST00000295706.4_Silent_p.S382S|PPFIA4_ENST00000599966.1_Silent_p.S382S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	866	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.S1021S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGCTCTGTCGGACACAGAGA	0.632																																						ENST00000367240.2																			1	Substitution - coding silent(1)	p.S1021S(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2599-2601)tcG>tcA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							72.0	76.0	74.0					1																	203029425		2203	4300	6503	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203029425G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2598G>A	1.37:g.203029425G>A						PPFIA4_ENST00000272198.6_Silent_p.S382S|PPFIA4_ENST00000295706.4_Silent_p.S382S|PPFIA4_ENST00000447715.2_Silent_p.S866S|PPFIA4_ENST00000599966.1_Silent_p.S382S|PPFIA4_ENST00000414050.2_Silent_p.S595S	p.S867S			O75335	LIPA4_HUMAN			21	3128	+			382					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.2601G>A																																																																																					0.632	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		29	42	0	0	0	1	0	29	42				
SLC35B3	51000	broad.mit.edu	37	6	8428253	8428253	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:8428253G>T	ENST00000379660.4	-	4	785	c.336C>A	c.(334-336)ggC>ggA	p.G112G	SLC35B3_ENST00000426876.1_Silent_p.G178G|SLC35B3_ENST00000339306.5_Silent_p.G112G	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	112					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TAAGGTACCAGCCACAGGACT	0.378																																					Melanoma(83;700 1353 9357 11478 30548)	ENST00000379660.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15						c.(334-336)ggC>ggA		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3							120.0	128.0	125.0					6																	8428253		2203	4300	6503	SO:0001819	synonymous_variant	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8428253G>T	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.336C>A	6.37:g.8428253G>T						SLC35B3_ENST00000426876.1_Silent_p.G178G|SLC35B3_ENST00000339306.5_Silent_p.G112G	p.G112G	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN			4	785	-	Ovarian(93;0.0569)		112					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Silent	SNP	ENST00000379660.4	37	c.336C>A	CCDS4508.1																																																																																				0.378	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		13	105	1	0	3.27435e-08	1	3.90559e-08	13	105				
PLCZ1	89869	broad.mit.edu	37	12	18837124	18837124	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18837124A>C	ENST00000538330.1	-	10	1408	c.1027T>G	c.(1027-1029)Tta>Gta	p.L343V	PLCZ1_ENST00000435379.1_Missense_Mutation_p.L366V|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L368V|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L559V|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L561V|PLCZ1_ENST00000534932.1_Missense_Mutation_p.L42V|PLCZ1_ENST00000541695.1_3'UTR					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTGCTATTAAACCTTGACCT	0.333																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1675-1677)Tta>Gta		phospholipase C, zeta 1							106.0	103.0	104.0					12																	18837124		2203	4297	6500	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18837124A>C	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1027T>G	12.37:g.18837124A>C	ENSP00000445880:p.Leu343Val					PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L366V|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L368V|PLCZ1_ENST00000534932.1_Missense_Mutation_p.L42V|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L561V|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L343V	p.L559V	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			14	1944	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		561			C2.			Missense_Mutation	SNP	ENST00000538330.1	37	c.1675T>G		.	.	.	.	.	.	.	.	.	.	A	4.517	0.095962	0.08681	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.15	0.766	0.18476	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.812916	0.11299	N	0.578422	T	0.44477	0.1295	N	0.20574	0.59	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.21151	0.018;0.033	T	0.24440	-1.0160	10	0.18276	T	0.48	.	4.4659	0.11689	0.4666:0.0:0.1003:0.433	.	561;343	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	V	42;343;561;559;366;368	ENSP00000438826:L42V;ENSP00000445880:L343V;ENSP00000266505:L561V;ENSP00000402358:L559V;ENSP00000400504:L366V;ENSP00000445026:L368V	ENSP00000266505:L561V	L	-	1	2	PLCZ1	18728391	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	-0.188000	0.09642	0.084000	0.17077	0.533000	0.62120	TTA		0.333	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		23	35	0	0	0	1	0	23	35				
COL17A1	1308	broad.mit.edu	37	10	105807859	105807859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105807859G>T	ENST00000353479.5	-	30	2521	c.2231C>A	c.(2230-2232)cCt>cAt	p.P744H	MIR936_ENST00000401264.1_RNA|COL17A1_ENST00000369733.3_Missense_Mutation_p.P744H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	744	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGCCAGCAGGACCTGGTAA	0.582																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2230-2232)cCt>cAt		collagen, type XVII, alpha 1							241.0	224.0	230.0					10																	105807859		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105807859G>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2231C>A	10.37:g.105807859G>T	ENSP00000340937:p.Pro744His					MIR936_ENST00000401264.1_RNA|COL17A1_ENST00000369733.3_Missense_Mutation_p.P744H	p.P744H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	30	2521	-		Colorectal(252;0.103)|Breast(234;0.122)	744			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2231C>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555035	0.65425	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.96967	-4.19;-4.19	5.32	4.41	0.53225	.	0.000000	0.46442	D	0.000286	D	0.96981	0.9014	M	0.82716	2.605	0.80722	D	1	D	0.61697	0.99	P	0.52031	0.688	D	0.96115	0.9080	10	0.38643	T	0.18	-8.6752	14.4436	0.67336	0.0:0.0:0.8517:0.1483	.	744	Q9UMD9	COHA1_HUMAN	H	744	ENSP00000340937:P744H;ENSP00000358748:P744H	ENSP00000340937:P744H	P	-	2	0	COL17A1	105797849	1.000000	0.71417	0.653000	0.29593	0.822000	0.46500	4.434000	0.59935	1.228000	0.43614	0.555000	0.69702	CCT		0.582	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		12	239	1	0	2.27111e-07	1	2.66951e-07	12	239				
DOCK7	85440	broad.mit.edu	37	1	63113847	63113847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113847C>T	ENST00000340370.5	-	6	679	c.662G>A	c.(661-663)cGt>cAt	p.R221H	DOCK7_ENST00000404627.2_Missense_Mutation_p.R221H|DOCK7_ENST00000251157.5_Missense_Mutation_p.R221H	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	221					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCATTCTGACGGTCTATTTC	0.388																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(661-663)cGt>cAt		dedicator of cytokinesis 7							115.0	118.0	117.0					1																	63113847		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113847C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.662G>A	1.37:g.63113847C>T	ENSP00000340742:p.Arg221His					DOCK7_ENST00000340370.5_Missense_Mutation_p.R221H|DOCK7_ENST00000404627.2_Missense_Mutation_p.R221H	p.R221H	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			6	695	-			221					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.662G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077208	0.36662	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.18502	2.21;2.21;2.21	4.88	-1.53	0.08611	.	0.366168	0.30840	N	0.008765	T	0.04497	0.0123	L	0.38531	1.155	0.30761	N	0.744051	B;B;B;B;B	0.15719	0.006;0.002;0.001;0.003;0.014	B;B;B;B;B	0.20577	0.003;0.005;0.005;0.01;0.03	T	0.40175	-0.9577	10	0.25751	T	0.34	.	13.1362	0.59411	0.0:0.1217:0.0:0.8783	.	221;221;221;221;221	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	H	221	ENSP00000251157:R221H;ENSP00000340742:R221H;ENSP00000384446:R221H	ENSP00000251157:R221H	R	-	2	0	DOCK7	62886435	0.999000	0.42202	0.876000	0.34364	0.972000	0.66771	1.399000	0.34566	-0.434000	0.07275	-0.251000	0.11542	CGT		0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		27	83	0	0	0	1	0	27	83				
HM13	81502	broad.mit.edu	37	20	30115291	30115291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30115291C>A	ENST00000340852.5	+	2	312	c.188C>A	c.(187-189)gCt>gAt	p.A63D	HM13_ENST00000335574.5_Missense_Mutation_p.A63D|HM13_ENST00000376127.3_Missense_Mutation_p.A63D|HM13_ENST00000398174.3_Missense_Mutation_p.A63D	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	63					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCTAGAATGCTTCAGACATG	0.527																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(187-189)gCt>gAt		histocompatibility (minor) 13							147.0	145.0	146.0					20																	30115291		2203	4300	6503	SO:0001583	missense	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30115291C>A	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.188C>A	20.37:g.30115291C>A	ENSP00000343032:p.Ala63Asp					HM13_ENST00000376127.3_Missense_Mutation_p.A63D|HM13_ENST00000340852.5_Missense_Mutation_p.A63D|HM13_ENST00000398174.3_Missense_Mutation_p.A63D	p.A63D	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		2	312	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		63					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.188C>A	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066620	0.55539	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.23552	1.91;1.92;1.91;1.9;1.9	5.76	5.76	0.90799	.	0.362168	0.28026	N	0.016891	T	0.24122	0.0584	L	0.40543	1.245	0.23628	N	0.997255	B;B;B;B	0.14438	0.003;0.009;0.01;0.004	B;B;B;B	0.19666	0.009;0.005;0.026;0.009	T	0.15263	-1.0443	10	0.13108	T	0.6	-16.6536	18.5426	0.91035	0.0:1.0:0.0:0.0	.	63;63;63;63	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	D	63	ENSP00000335294:A63D;ENSP00000343032:A63D;ENSP00000381237:A63D;ENSP00000365296:A63D;ENSP00000341347:A63D	ENSP00000335294:A63D	A	+	2	0	HM13	29578952	0.294000	0.24380	0.861000	0.33841	0.981000	0.71138	5.029000	0.64121	2.719000	0.93026	0.555000	0.69702	GCT		0.527	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		10	77	1	0	0.000673444	1	0.000724755	10	77				
SDSL	113675	broad.mit.edu	37	12	113873266	113873266	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113873266G>T	ENST00000403593.4	+	6	838	c.576G>T	c.(574-576)caG>caT	p.Q192H	SDSL_ENST00000345635.4_Missense_Mutation_p.Q192H			Q96GA7	SDSL_HUMAN	serine dehydratase-like	192					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						TGGGCTGGCAGCATGTACCCA	0.647																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(574-576)caG>caT		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						54.0	52.0	53.0					12																	113873266		2203	4300	6503	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113873266G>T	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.576G>T	12.37:g.113873266G>T	ENSP00000385790:p.Gln192His					SDSL_ENST00000345635.4_Missense_Mutation_p.Q192H	p.Q192H			Q96GA7	SDSL_HUMAN			6	838	+			192						Missense_Mutation	SNP	ENST00000403593.4	37	c.576G>T	CCDS9170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.390|8.390	0.839497|0.839497	0.16891|0.16891	.|.	.|.	ENSG00000139410|ENSG00000139410	ENST00000403593;ENST00000553248;ENST00000345635|ENST00000546672	D;D;D|.	0.96716|.	-4.1;-4.1;-4.1|.	4.63|4.63	1.74|1.74	0.24563|0.24563	Pyridoxal phosphate-dependent enzyme, beta subunit (2);|.	0.369996|.	0.24606|.	N|.	0.037092|.	T|T	0.26085|0.26085	0.0636|0.0636	L|L	0.35288|0.35288	1.05|1.05	0.20821|0.20821	N|N	0.999847|0.999847	B|.	0.11235|.	0.004|.	B|.	0.14023|.	0.01|.	T|T	0.21690|0.21690	-1.0238|-1.0238	10|5	0.72032|.	D|.	0.01|.	-23.2222|-23.2222	3.9702|3.9702	0.09449|0.09449	0.3052:0.0:0.4438:0.251|0.3052:0.0:0.4438:0.251	.|.	192|.	Q96GA7|.	SDSL_HUMAN|.	H|I	192;134;192|88	ENSP00000385790:Q192H;ENSP00000448868:Q134H;ENSP00000341117:Q192H|.	ENSP00000341117:Q192H|.	Q|S	+|+	3|2	2|0	SDSL|SDSL	112357649|112357649	0.036000|0.036000	0.19791|0.19791	0.992000|0.992000	0.48379|0.48379	0.824000|0.824000	0.46624|0.46624	-0.151000|-0.151000	0.10175|0.10175	0.516000|0.516000	0.28340|0.28340	0.462000|0.462000	0.41574|0.41574	CAG|AGC		0.647	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		4	55	1	0	0.150653	1	0.152692	4	55				
CFAP221	200373	broad.mit.edu	37	2	120388383	120388383	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120388383C>T	ENST00000413369.3	+	19	1967	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	PCDP1_ENST00000602047.1_Missense_Mutation_p.S341F	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AAACAGGACTCCACAACTCAG	0.458																																						ENST00000602047.1																			0											c.(1021-1023)tCc>tTc									170.0	163.0	165.0					2																	120388383		2203	4300	6503	SO:0001583	missense	0					cilium	calmodulin binding	g.chr2:120388383C>T																												ENST00000413369.3:c.1880C>T	2.37:g.120388383C>T	ENSP00000393222:p.Ser627Phe					PCDP1_ENST00000413369.3_Missense_Mutation_p.S627F	p.S341F			Q4G0U5	PCDP1_HUMAN			20	2134	+	Colorectal(110;0.196)		627						Missense_Mutation	SNP	ENST00000413369.3	37	c.1022C>T	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.33|14.33	2.503229|2.503229	0.44558|0.44558	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000443972;ENST00000413057|ENST00000295220;ENST00000413369	.|T	.|0.32753	.|1.44	4.91|4.91	0.555|0.555	0.17247|0.17247	.|.	.|2.297230	.|0.01397	.|N	.|0.013468	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48503	.|0.911;0.456	.|B;B	.|0.38562	.|0.276;0.188	T|T	0.18808|0.18808	-1.0325|-1.0325	5|10	.|0.66056	.|D	.|0.02	-0.0211|-0.0211	4.3746|4.3746	0.11263|0.11263	0.0:0.416:0.3692:0.2148|0.0:0.416:0.3692:0.2148	.|.	.|471;627	.|Q4G0U5-3;Q4G0U5	.|.;PCDP1_HUMAN	S|F	186;175|341;627	.|ENSP00000393222:S627F	.|ENSP00000295220:S341F	P|S	+|+	1|2	0|0	AC069154.2|AC069154.2	120104853|120104853	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	0.284000|0.284000	0.18864|0.18864	0.220000|0.220000	0.20860|0.20860	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.458	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			46	74	0	0	0	1	0	46	74				
SLC25A18	83733	broad.mit.edu	37	22	18066240	18066240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18066240G>A	ENST00000327451.6	+	7	887	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	SLC25A18_ENST00000497401.1_3'UTR|AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.V117I	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	117						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GATGTGCCAGGTCGTGGTGAC	0.607																																					Colon(118;1560 1625 18964 29606 50093)	ENST00000327451.5																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18						c.(349-351)Gtc>Atc		solute carrier family 25 (glutamate carrier), member 18	L-Glutamic Acid(DB00142)						154.0	126.0	136.0					22																	18066240		2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18066240G>A	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.349G>A	22.37:g.18066240G>A	ENSP00000329033:p.Val117Ile					AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.V117I|SLC25A18_ENST00000497401.1_3'UTR	p.V117I	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	7	887	+			117						Missense_Mutation	SNP	ENST00000327451.6	37	c.349G>A	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568295	0.45798	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.78816	-1.21;-1.21	4.83	3.82	0.43975	Mitochondrial carrier domain (2);	0.199697	0.42053	D	0.000761	T	0.76666	0.4019	L	0.38838	1.175	0.48571	D	0.999673	B	0.31009	0.303	P	0.46275	0.51	T	0.72991	-0.4123	10	0.30854	T	0.27	.	12.45	0.55671	0.0834:0.0:0.9166:0.0	.	117	Q9H1K4	GHC2_HUMAN	I	117	ENSP00000329033:V117I;ENSP00000382710:V117I	ENSP00000329033:V117I	V	+	1	0	SLC25A18	16446240	1.000000	0.71417	0.936000	0.37596	0.015000	0.08874	8.877000	0.92386	1.392000	0.46585	-0.140000	0.14226	GTC		0.607	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		35	39	0	0	0	1	0	35	39				
ITFG1	81533	broad.mit.edu	37	16	47271908	47271908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:47271908G>T	ENST00000320640.6	-	13	1570	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	ITFG1_ENST00000544001.2_Missense_Mutation_p.L335M|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	448						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTAGAACACAGACCACTAAGA	0.274																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1342-1344)Ctg>Atg		integrin alpha FG-GAP repeat containing 1							27.0	27.0	27.0					16																	47271908		2188	4269	6457	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47271908G>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1342C>A	16.37:g.47271908G>T	ENSP00000319918:p.Leu448Met					ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.L335M	p.L448M	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			13	1570	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	448					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1342C>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115583	0.56505	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.64991	-0.13;-0.13	5.68	3.71	0.42584	.	0.061554	0.64402	D	0.000004	T	0.72195	0.3430	M	0.66939	2.045	0.51482	D	0.999929	D;D	0.76494	0.993;0.999	P;D	0.66351	0.906;0.943	T	0.70212	-0.4934	10	0.44086	T	0.13	-23.502	9.0502	0.36372	0.1719:0.0:0.8281:0.0	.	335;448	F5GXC5;Q8TB96	.;TIP_HUMAN	M	448;108;193;335	ENSP00000319918:L448M;ENSP00000441062:L335M	ENSP00000319918:L448M	L	-	1	2	ITFG1	45829409	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.597000	0.46214	0.746000	0.32786	0.655000	0.94253	CTG		0.274	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		4	7	1	0	0.000602214	1	0.000649039	4	7				
IQGAP1	8826	broad.mit.edu	37	15	90996049	90996049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90996049G>A	ENST00000268182.5	+	12	1329	c.1205G>A	c.(1204-1206)gGt>gAt	p.G402D	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	402					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCCAGAAGGGTGTTGCTGAG	0.512																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1204-1206)gGt>gAt		IQ motif containing GTPase activating protein 1							106.0	103.0	104.0					15																	90996049		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90996049G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1205G>A	15.37:g.90996049G>A	ENSP00000268182:p.Gly402Asp					IQGAP1_ENST00000560738.1_Intron	p.G402D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		12	1329	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		402					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.1205G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404511	0.62288	.	.	ENSG00000140575	ENST00000268182	T	0.09445	2.98	5.17	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.69823	2.125	0.80722	D	1	P	0.38473	0.633	B	0.37888	0.26	T	0.02339	-1.1174	10	0.42905	T	0.14	-15.5583	12.766	0.57393	0.0785:0.0:0.9215:0.0	.	402	P46940	IQGA1_HUMAN	D	402	ENSP00000268182:G402D	ENSP00000268182:G402D	G	+	2	0	IQGAP1	88797053	1.000000	0.71417	0.899000	0.35326	0.927000	0.56198	9.570000	0.98174	1.397000	0.46682	0.655000	0.94253	GGT		0.512	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		34	58	0	0	0	1	0	34	58				
ARAP3	64411	broad.mit.edu	37	5	141039454	141039454	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141039454C>T	ENST00000239440.4	-	22	3224	c.3159G>A	c.(3157-3159)cgG>cgA	p.R1053R	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Silent_p.R715R|ARAP3_ENST00000508305.1_Silent_p.R884R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1053	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R1053R(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCCAAGTTCCGCGTGCACA	0.557																																						ENST00000239440.4																			1	Substitution - coding silent(1)	p.R1053R(1)	large_intestine(1)	NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3157-3159)cgG>cgA		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							59.0	50.0	53.0					5																	141039454		2203	4298	6501	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141039454C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3159G>A	5.37:g.141039454C>T						ARAP3_ENST00000508305.1_Silent_p.R884R|ARAP3_ENST00000513878.1_Silent_p.R715R|ARAP3_ENST00000512390.1_5'UTR	p.R1053R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			22	3224	-			1053			Rho-GAP.		B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.3159G>A	CCDS4266.1																																																																																				0.557	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		6	8	0	0	0	1	0	6	8				
ZNF383	163087	broad.mit.edu	37	19	37733454	37733454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37733454G>T	ENST00000589413.1	+	8	899	c.316G>T	c.(316-318)Gga>Tga	p.G106*	ZNF383_ENST00000352998.3_Nonsense_Mutation_p.G106*|ZNF383_ENST00000590503.1_Nonsense_Mutation_p.G106*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGATAATGGGACTTACAAA	0.363																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(316-318)Gga>Tga		zinc finger protein 383							103.0	112.0	109.0					19																	37733454		2201	4299	6500	SO:0001587	stop_gained	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733454G>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.316G>T	19.37:g.37733454G>T	ENSP00000464871:p.Gly106*					ZNF383_ENST00000590503.1_Nonsense_Mutation_p.G106*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.G106*	p.G106*			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	899	+			106					Q6X2C7	Nonsense_Mutation	SNP	ENST00000589413.1	37	c.316G>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472445	0.84640	.	.	ENSG00000188283	ENST00000352998	.	.	.	3.71	1.08	0.20341	.	0.276134	0.19388	N	0.115483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	5.1941	0.15227	0.3535:0.0:0.6465:0.0	.	.	.	.	X	106	.	ENSP00000340132:G106X	G	+	1	0	ZNF383	42425294	0.001000	0.12720	0.884000	0.34674	0.979000	0.70002	0.071000	0.14594	0.176000	0.19873	0.563000	0.77884	GGA		0.363	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		32	90	1	0	6.02846e-25	1	8.00719e-25	32	90				
SMARCA5	8467	broad.mit.edu	37	4	144445597	144445597	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144445597C>T	ENST00000283131.3	+	4	959	c.497C>T	c.(496-498)aCt>aTt	p.T166I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	166					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATGTTTGCACTCGATTTGAA	0.358																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(496-498)aCt>aTt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							112.0	110.0	111.0					4																	144445597		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144445597C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.497C>T	4.37:g.144445597C>T	ENSP00000283131:p.Thr166Ile						p.T166I	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			4	959	+	all_hematologic(180;0.158)		166						Missense_Mutation	SNP	ENST00000283131.3	37	c.497C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470292	0.43942	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91577	-2.87	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	L	0.28608	0.87	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.80248	-0.1461	10	0.23891	T	0.37	-40.7367	19.4826	0.95016	0.0:1.0:0.0:0.0	.	166	O60264	SMCA5_HUMAN	I	166;109;109	ENSP00000283131:T166I	ENSP00000283131:T166I	T	+	2	0	SMARCA5	144665047	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.789000	0.55454	2.598000	0.87819	0.591000	0.81541	ACT		0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			16	39	0	0	0	1	0	16	39				
DECR1	1666	broad.mit.edu	37	8	91033202	91033202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91033202G>A	ENST00000220764.2	+	5	571	c.483G>A	c.(481-483)tgG>tgA	p.W161*	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Nonsense_Mutation_p.W152*	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	161					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTAATGCTTGGAAAACCATAA	0.333																																						ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(454-456)tgG>tgA		2,4-dienoyl CoA reductase 1, mitochondrial							88.0	87.0	88.0					8																	91033202		2203	4300	6503	SO:0001587	stop_gained	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91033202G>A	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.483G>A	8.37:g.91033202G>A	ENSP00000220764:p.Trp161*					DECR1_ENST00000220764.2_Nonsense_Mutation_p.W161*|DECR1_ENST00000519007.1_3'UTR	p.W152*			Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		7	1139	+			161					B7Z6B8|Q2M304|Q93085	Nonsense_Mutation	SNP	ENST00000220764.2	37	c.456G>A	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902365	0.92035	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	.	.	.	5.5	5.5	0.81552	.	0.054698	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7165	0.77672	0.0:0.1368:0.8632:0.0	.	.	.	.	X	161;139;152;152;111	.	ENSP00000220764:W161X	W	+	3	0	DECR1	91102378	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.811000	0.86092	2.596000	0.87737	0.561000	0.74099	TGG		0.333	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			30	37	0	0	0	1	0	30	37				
EHD1	10938	broad.mit.edu	37	11	64622267	64622267	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64622267C>T	ENST00000320631.3	-	5	1397	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.T381T	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	381					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGTCATCCACCGTGTCCAGCA	0.637																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1141-1143)acG>acA		EH-domain containing 1							227.0	212.0	217.0					11																	64622267		2201	4297	6498	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622267C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1143G>A	11.37:g.64622267C>T						EHD1_ENST00000359393.2_Silent_p.T381T|EHD1_ENST00000488711.1_5'UTR	p.T381T	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1397	-			381					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1143G>A	CCDS8084.1																																																																																				0.637	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		15	276	0	0	0	1	0	15	276				
DUOXA2	405753	broad.mit.edu	37	15	45408871	45408871	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45408871T>C	ENST00000323030.5	+	4	783	c.498T>C	c.(496-498)ccT>ccC	p.P166P	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	166					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGAGTAGCCCTTGCGGCCTGT	0.617																																						ENST00000323030.5																			0											c.(496-498)ccT>ccC		dual oxidase maturation factor 2							45.0	52.0	49.0					15																	45408871		2156	4261	6417	SO:0001819	synonymous_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408871T>C	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.498T>C	15.37:g.45408871T>C							p.P166P	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	4	783	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	166					B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	c.498T>C	CCDS10118.2																																																																																				0.617	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		6	40	0	0	0	1	0	6	40				
MECR	51102	broad.mit.edu	37	1	29528491	29528491	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29528491C>A	ENST00000263702.6	-	6	745	c.720G>T	c.(718-720)gaG>gaT	p.E240D	MECR_ENST00000489248.1_5'Flank|MECR_ENST00000373791.3_Missense_Mutation_p.E164D			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	240					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TTCTTAGCTCCTCTTCTGTGA	0.493																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(490-492)gaG>gaT		mitochondrial trans-2-enoyl-CoA reductase							259.0	257.0	258.0					1																	29528491		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29528491C>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.720G>T	1.37:g.29528491C>A	ENSP00000263702:p.Glu240Asp					MECR_ENST00000263702.6_Missense_Mutation_p.E240D	p.E164D	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	6	864	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	240					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.492G>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859340	0.51376	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792;ENST00000453185	T;T	0.47528	0.84;0.84	5.75	-0.503	0.12000	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.137096	0.64402	N	0.000004	T	0.31827	0.0809	L	0.39898	1.24	0.49582	D	0.999809	B	0.02656	0.0	B	0.06405	0.002	T	0.09400	-1.0676	10	0.19147	T	0.46	.	9.2733	0.37684	0.0:0.4586:0.0:0.5414	.	240	Q9BV79	MECR_HUMAN	D	164;240;152;79	ENSP00000362896:E164D;ENSP00000263702:E240D	ENSP00000263702:E240D	E	-	3	2	MECR	29401078	0.000000	0.05858	0.873000	0.34254	0.889000	0.51656	-0.302000	0.08221	0.081000	0.16988	0.561000	0.74099	GAG		0.493	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		22	293	1	0	4.59853e-10	1	5.63411e-10	22	293				
CACNA1G	8913	broad.mit.edu	37	17	48653030	48653030	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48653030C>A	ENST00000359106.5	+	8	1267	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	CACNA1G_ENST00000510366.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000416767.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000352832.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L423M	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	423					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCCAGCACCCTGGCTAGCTT	0.617																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1267-1269)Ctg>Atg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						26.0	29.0	28.0					17																	48653030		2149	4250	6399	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653030C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1267C>A	17.37:g.48653030C>A	ENSP00000352011:p.Leu423Met					CACNA1G_ENST00000515765.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000416767.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L423M	p.L423M	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	1639	+	Breast(11;6.7e-17)		423					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.1267C>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	16.65	3.181736	0.57800	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97941	-4.41;-4.41;-4.62;-4.36;-4.41;-4.4;-4.43;-4.5;-4.48;-4.5;-4.51;-4.37;-4.39;-4.45;-4.4;-4.35;-4.44;-4.39;-4.37;-4.44;-4.41;-4.39;-4.42;-4.36;-4.44;-4.43	5.11	3.92	0.45320	.	0.000000	0.64402	D	0.000001	D	0.97990	0.9338	M	0.68952	2.095	0.47949	D	0.999553	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.89917	0.998;0.993;0.999;0.998;1.0;0.998;0.999;0.999;0.999;0.996;1.0;1.0;0.999;1.0;0.999;0.996;0.999;0.999;1.0;0.996;0.996;1.0;0.999;0.938;0.998;0.999	D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.91635	0.99;0.9;0.986;0.995;0.999;0.992;0.993;0.999;0.993;0.957;0.999;0.997;0.994;0.999;0.993;0.977;0.949;0.983;0.999;0.944;0.982;0.994;0.997;0.599;0.996;0.977	D	0.97549	1.0091	10	0.66056	D	0.02	.	9.5124	0.39085	0.0:0.7749:0.0:0.2251	.	423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423;423	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	M	423	ENSP00000353990:L423M;ENSP00000339302:L423M;ENSP00000392390:L423M;ENSP00000347078:L423M;ENSP00000409759:L423M;ENSP00000425522:L423M;ENSP00000426261:L423M;ENSP00000425451:L423M;ENSP00000422407:L423M;ENSP00000426814:L423M;ENSP00000427238:L423M;ENSP00000423112:L423M;ENSP00000420918:L423M;ENSP00000426172:L423M;ENSP00000423045:L423M;ENSP00000427173:L423M;ENSP00000426098:L423M;ENSP00000425698:L423M;ENSP00000426232:L423M;ENSP00000423317:L423M;ENSP00000350979:L423M;ENSP00000352011:L423M;ENSP00000414388:L423M;ENSP00000423155:L423M;ENSP00000422268:L423M;ENSP00000421518:L423M	ENSP00000339302:L423M	L	+	1	2	CACNA1G	46008029	0.964000	0.33143	1.000000	0.80357	0.995000	0.86356	1.975000	0.40569	2.376000	0.81061	0.561000	0.74099	CTG		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	11	1	0	0.00010058	1	0.000111121	12	11				
PAPOLA	10914	broad.mit.edu	37	14	97002275	97002275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97002275G>A	ENST00000216277.8	+	11	1189	c.969G>A	c.(967-969)caG>caA	p.Q323Q	PAPOLA_ENST00000392990.2_Silent_p.Q323Q	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	323					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCACAACAGAACTCCACGT	0.403																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(967-969)caG>caA		poly(A) polymerase alpha							232.0	176.0	195.0					14																	97002275		2203	4300	6503	SO:0001819	synonymous_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97002275G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.969G>A	14.37:g.97002275G>A						PAPOLA_ENST00000392990.2_Silent_p.Q323Q	p.Q323Q	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	11	1189	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	323					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	c.969G>A	CCDS9946.1																																																																																				0.403	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			28	57	0	0	0	1	0	28	57				
TMPRSS3	64699	broad.mit.edu	37	21	43809106	43809106	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43809106C>T	ENST00000291532.3	-	4	1209	c.254G>A	c.(253-255)tGt>tAt	p.C85Y	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.C169Y|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.C83Y|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	85	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGCTCGATACACTTAAAGGA	0.522																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(253-255)tGt>tAt		transmembrane protease, serine 3							86.0	73.0	77.0					21																	43809106		2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43809106C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.254G>A	21.37:g.43809106C>T	ENSP00000291532:p.Cys85Tyr					TMPRSS3_ENST00000398397.3_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.C169Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.C83Y	p.C85Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			4	1209	-			85			LDL-receptor class A.		D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.254G>A	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137485	0.56936	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.99919	-8.0;-8.0;-8.0;-8.0;-8.0	5.23	5.23	0.72850	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	H	0.95645	3.7	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.975;0.999;1.0	D	0.95923	0.8932	9	.	.	.	.	18.8283	0.92127	0.0:1.0:0.0:0.0	.	85;85;85	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	Y	85;85;83;169;85	ENSP00000291532:C85Y;ENSP00000411013:C85Y;ENSP00000381442:C83Y;ENSP00000369762:C169Y;ENSP00000381434:C85Y	.	C	-	2	0	TMPRSS3	42682175	1.000000	0.71417	0.934000	0.37439	0.044000	0.14063	5.920000	0.70017	2.443000	0.82685	0.561000	0.74099	TGT		0.522	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			9	24	0	0	0	1	0	9	24				
NGFR	4804	broad.mit.edu	37	17	47583691	47583691	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47583691C>T	ENST00000172229.3	+	3	364	c.239C>T	c.(238-240)aCc>aTc	p.T80I	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	80					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GTGAGCGCGACCGAGCCGTGC	0.682																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(238-240)aCc>aTc		nerve growth factor receptor							23.0	26.0	25.0					17																	47583691		2189	4273	6462	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583691C>T	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.239C>T	17.37:g.47583691C>T	ENSP00000172229:p.Thr80Ile					NGFR_ENST00000504201.1_5'UTR|RP5-1029K10.2_ENST00000514506.1_RNA	p.T80I	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			3	364	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		80					B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.239C>T	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872418	0.91587	.	.	ENSG00000064300	ENST00000172229	D	0.91351	-2.83	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.095171	0.64402	D	0.000001	D	0.93625	0.7964	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91611	0.5303	10	0.25106	T	0.35	-31.5298	18.7261	0.91714	0.0:1.0:0.0:0.0	.	80	P08138	TNR16_HUMAN	I	80	ENSP00000172229:T80I	ENSP00000172229:T80I	T	+	2	0	NGFR	44938690	1.000000	0.71417	0.949000	0.38748	0.632000	0.37999	7.671000	0.83941	2.525000	0.85131	0.561000	0.74099	ACC		0.682	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			5	11	0	0	0	1	0	5	11				
KCNA4	3739	broad.mit.edu	37	11	30033097	30033097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30033097C>T	ENST00000328224.6	-	2	2362	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	377					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACAATACAGACTGTTTCCACG	0.453																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1129-1131)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 4							85.0	80.0	81.0					11																	30033097		2032	4210	6242	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033097C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1129G>A	11.37:g.30033097C>T	ENSP00000328511:p.Val377Ile						p.V377I	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2362	-			377						Missense_Mutation	SNP	ENST00000328224.6	37	c.1129G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	7.134	0.580382	0.13686	.	.	ENSG00000182255	ENST00000328224	D	0.98633	-5.04	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	N	0.03177	-0.4	0.58432	D	0.999999	B	0.25441	0.126	B	0.29524	0.103	D	0.92715	0.6186	10	0.11794	T	0.64	.	18.9734	0.92724	0.0:1.0:0.0:0.0	.	377	P22459	KCNA4_HUMAN	I	377	ENSP00000328511:V377I	ENSP00000328511:V377I	V	-	1	0	KCNA4	29989673	1.000000	0.71417	0.865000	0.33974	0.298000	0.27526	4.949000	0.63596	2.485000	0.83878	0.563000	0.77884	GTC		0.453	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		9	64	0	0	0	1	0	9	64				
ABCA8	10351	broad.mit.edu	37	17	66925236	66925236	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66925236A>C	ENST00000269080.2	-	8	1216	c.1079T>G	c.(1078-1080)aTt>aGt	p.I360S	ABCA8_ENST00000430352.2_Missense_Mutation_p.I360S|ABCA8_ENST00000586539.1_Missense_Mutation_p.I360S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	360					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAGCTTAAAATCCACTCCAA	0.493																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1078-1080)aTt>aGt		ATP-binding cassette, sub-family A (ABC1), member 8							95.0	77.0	84.0					17																	66925236		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925236A>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1079T>G	17.37:g.66925236A>C	ENSP00000269080:p.Ile360Ser					ABCA8_ENST00000586539.1_Missense_Mutation_p.I360S|ABCA8_ENST00000430352.2_Missense_Mutation_p.I360S	p.I360S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			8	1216	-	Breast(10;4.56e-13)		360					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1079T>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.355266	0.41700	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.90133	-2.62;-2.62	4.67	-1.84	0.07809	.	0.569989	0.15628	N	0.252529	D	0.89319	0.6681	M	0.69358	2.11	0.26573	N	0.97352	P;P;B;B;P	0.44260	0.83;0.494;0.12;0.029;0.494	P;P;B;B;P	0.48677	0.586;0.493;0.156;0.139;0.493	T	0.81611	-0.0854	10	0.22706	T	0.39	.	9.888	0.41272	0.5282:0.0:0.4718:0.0	.	299;360;360;360;360	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	S	360;360;299	ENSP00000269080:I360S;ENSP00000402814:I360S	ENSP00000269080:I360S	I	-	2	0	ABCA8	64436831	0.000000	0.05858	0.055000	0.19348	0.986000	0.74619	-0.285000	0.08410	-0.412000	0.07519	0.533000	0.62120	ATT		0.493	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		14	19	0	0	0	1	0	14	19				
EFHC2	80258	broad.mit.edu	37	X	44091870	44091870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44091870C>A	ENST00000420999.1	-	10	1560	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	493	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTAAAGACTTCTTGTCCAGGC	0.383																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1477-1479)Gaa>Taa		EF-hand domain (C-terminal) containing 2							64.0	56.0	58.0					X																	44091870		1915	4126	6041	SO:0001587	stop_gained	80258						calcium ion binding	g.chrX:44091870C>A	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1477G>T	X.37:g.44091870C>A	ENSP00000404232:p.Glu493*						p.E493*	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			10	1560	-			493			DM10 3.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Nonsense_Mutation	SNP	ENST00000420999.1	37	c.1477G>T	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.871957|5.871957	0.97049|0.97049	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999|ENST00000441230	.|.	.|.	.|.	5.85|5.85	3.0|3.0	0.34707|0.34707	.|.	0.288557|.	0.34879|.	N|.	0.003617|.	.|T	.|0.41003	.|0.1140	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49283	.|-0.8956	.|3	0.10377|.	T|.	0.69|.	-23.7234|-23.7234	6.3317|6.3317	0.21274|0.21274	0.1244:0.5685:0.2371:0.0701|0.1244:0.5685:0.2371:0.0701	.|.	.|.	.|.	.|.	X|I	493;521|473	.|.	ENSP00000333823:E493X|.	E|R	-|-	1|2	0|0	EFHC2|EFHC2	43976814|43976814	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.643000|0.643000	0.38383|0.38383	2.480000|2.480000	0.45206|0.45206	1.230000|1.230000	0.43646|0.43646	-0.202000|-0.202000	0.12741|0.12741	GAA|AGA		0.383	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		6	8	1	0	0.00198382	1	0.00210581	6	8				
KIAA0319L	79932	broad.mit.edu	37	1	35921616	35921616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35921616G>A	ENST00000325722.3	-	10	1888	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	KIAA0319L_ENST00000373266.4_5'Flank|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	552	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTCCTACCTGCATCTCCACC	0.483																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(1654-1656)Cag>Tag		KIAA0319-like							259.0	267.0	264.0					1																	35921616		2203	4300	6503	SO:0001587	stop_gained	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35921616G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1654C>T	1.37:g.35921616G>A	ENSP00000318406:p.Gln552*					KIAA0319L_ENST00000485551.1_5'UTR	p.Q552*	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			10	1888	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	552			PKD 3.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Nonsense_Mutation	SNP	ENST00000325722.3	37	c.1654C>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	38	6.992764	0.97987	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.2037	18.5928	0.91220	0.0:0.0:1.0:0.0	.	.	.	.	X	552	.	ENSP00000318406:Q552X	Q	-	1	0	KIAA0319L	35694203	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.807000	0.99171	2.640000	0.89533	0.655000	0.94253	CAG		0.483	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		12	285	0	0	0	1	0	12	285				
FAAH2	158584	broad.mit.edu	37	X	57337037	57337037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57337037C>T	ENST00000374900.4	+	3	407	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	96						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTTGAGGAAGCGATGAAGGAG	0.383										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(286-288)gCg>gTg		fatty acid amide hydrolase 2							79.0	68.0	72.0					X																	57337037		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57337037C>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.287C>T	X.37:g.57337037C>T	ENSP00000364035:p.Ala96Val	HNSCC(52;0.14)					p.A96V	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			3	407	+			96					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.287C>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886576	0.17540	.	.	ENSG00000165591	ENST00000374900	T	0.70869	-0.52	2.34	1.3	0.21679	Amidase signature domain (2);	0.000000	0.64402	U	0.000001	D	0.85716	0.5761	H	0.96301	3.8	0.20074	N	0.999934	D	0.89917	1.0	D	0.91635	0.999	T	0.74047	-0.3790	10	0.87932	D	0	.	6.1274	0.20187	0.2945:0.7055:0.0:0.0	.	96	Q6GMR7	FAAH2_HUMAN	V	96	ENSP00000364035:A96V	ENSP00000364035:A96V	A	+	2	0	FAAH2	57353762	0.257000	0.24022	0.166000	0.22797	0.041000	0.13682	0.360000	0.20250	0.894000	0.36317	0.415000	0.27848	GCG		0.383	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		18	32	0	0	0	1	0	18	32				
MECP2	4204	broad.mit.edu	37	X	153296256	153296256	+	Silent	SNP	G	G	A	rs267608376|rs267608559		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296256G>A	ENST00000303391.6	-	4	1272	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Silent_p.S353S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	341					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCCCAGGGCTCTTACAGG	0.627																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(1021-1023)agC>agT		methyl CpG binding protein 2 (Rett syndrome)							50.0	49.0	49.0					X																	153296256		2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296256G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1023C>T	X.37:g.153296256G>A						MECP2_ENST00000453960.2_Silent_p.S353S	p.S341S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	1272	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		341					O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.1023C>T	CCDS14741.1																																																																																				0.627	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		33	45	0	0	0	1	0	33	45				
ALMS1	7840	broad.mit.edu	37	2	73677079	73677079	+	Missense_Mutation	SNP	C	C	T	rs570699297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677079C>T	ENST00000264448.6	+	8	3533	c.3422C>T	c.(3421-3423)aCt>aTt	p.T1141I	ALMS1_ENST00000377715.1_Missense_Mutation_p.T1141I|ALMS1_ENST00000409009.1_Missense_Mutation_p.T1099I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1141	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTAACCTCAACTTCCTACTCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18849	0.001		0.0	False		,,,				2504	0.0					ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3421-3423)aCt>aTt		Alstrom syndrome 1							155.0	152.0	153.0					2																	73677079		1861	4108	5969	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677079C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3422C>T	2.37:g.73677079C>T	ENSP00000264448:p.Thr1141Ile					ALMS1_ENST00000409009.1_Missense_Mutation_p.T1099I|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1141I	p.T1141I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3533	+			1141			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3422C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	9.515	1.106896	0.20714	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16743	3.2;3.2;2.32	4.1	1.98	0.26296	.	2.630070	0.01455	N	0.015659	T	0.29423	0.0733	L	0.48642	1.525	0.09310	N	1	D;P;B	0.53312	0.959;0.893;0.065	P;P;B	0.51193	0.662;0.578;0.034	T	0.36114	-0.9761	10	0.56958	D	0.05	.	11.6469	0.51265	0.0:0.4085:0.5915:0.0	.	1141;1099;1141	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	1099;1141;1141	ENSP00000386627:T1099I;ENSP00000264448:T1141I;ENSP00000366944:T1141I	ENSP00000264448:T1141I	T	+	2	0	ALMS1	73530587	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.918000	0.04021	0.429000	0.26202	0.561000	0.74099	ACT		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		64	99	0	0	0	1	0	64	99				
PRPF8	10594	broad.mit.edu	37	17	1579960	1579960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1579960C>T	ENST00000572621.1	-	15	2492	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PRPF8_ENST00000304992.6_Missense_Mutation_p.V743M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	743					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.V743M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGGCCTTCACGTATCGAAGG	0.537																																						ENST00000572621.1																			1	Substitution - Missense(1)	p.V743M(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2227-2229)Gtg>Atg		pre-mRNA processing factor 8							208.0	212.0	211.0					17																	1579960		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1579960C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2227G>A	17.37:g.1579960C>T	ENSP00000460348:p.Val743Met					PRPF8_ENST00000304992.6_Missense_Mutation_p.V743M	p.V743M			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	15	2492	-			743					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2227G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120543	0.94385	.	.	ENSG00000174231	ENST00000304992	D	0.85171	-1.95	6.07	6.07	0.98685	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95246	0.8355	10	0.87932	D	0	-0.665	18.8245	0.92111	0.0:1.0:0.0:0.0	.	743	Q6P2Q9	PRP8_HUMAN	M	743	ENSP00000304350:V743M	ENSP00000304350:V743M	V	-	1	0	PRPF8	1526710	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.480000	0.81109	2.884000	0.98904	0.655000	0.94253	GTG		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			21	300	0	0	0	1	0	21	300				
FGFR3	2261	broad.mit.edu	37	4	1800986	1800986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1800986C>A	ENST00000260795.2	+	2	217	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	FGFR3_ENST00000481110.2_Missense_Mutation_p.P39T|FGFR3_ENST00000352904.1_Missense_Mutation_p.P39T|FGFR3_ENST00000412135.2_Missense_Mutation_p.P39T|FGFR3_ENST00000340107.4_Missense_Mutation_p.P39T|FGFR3_ENST00000440486.2_Missense_Mutation_p.P39T			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	39	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CACAGAAGTCCCGGGCCCAGA	0.682		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(115-117)Ccg>Acg		fibroblast growth factor receptor 3	Palifermin(DB00039)						41.0	53.0	49.0					4																	1800986		2188	4293	6481	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1800986C>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.115C>A	4.37:g.1800986C>A	ENSP00000260795:p.Pro39Thr					FGFR3_ENST00000352904.1_Missense_Mutation_p.P39T|FGFR3_ENST00000440486.2_Missense_Mutation_p.P39T|FGFR3_ENST00000260795.2_Missense_Mutation_p.P39T|FGFR3_ENST00000412135.2_Missense_Mutation_p.P39T|FGFR3_ENST00000481110.2_Missense_Mutation_p.P39T	p.P39T	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		3	371	+		Breast(71;0.212)|all_epithelial(65;0.241)	39			Ig-like C2-type 1.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.115C>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	6.448	0.450881	0.12223	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	T;T;T;T;T;T	0.80824	-1.42;-1.14;-1.15;-1.13;-1.15;-1.13	3.44	2.59	0.31030	Immunoglobulin-like (1);	4.026880	0.01177	N	0.006992	T	0.74520	0.3727	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.42248	0.082;0.774;0.042;0.202	B;B;B;B	0.39299	0.085;0.296;0.055;0.205	T	0.63967	-0.6517	10	0.66056	D	0.02	.	7.5504	0.27793	0.0:0.8708:0.0:0.1292	.	39;39;39;39	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	T	39	ENSP00000420533:P39T;ENSP00000339824:P39T;ENSP00000414914:P39T;ENSP00000412903:P39T;ENSP00000260795:P39T;ENSP00000231803:P39T	ENSP00000260795:P39T	P	+	1	0	FGFR3	1770784	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.029000	0.12329	0.740000	0.32651	-0.513000	0.04457	CCG		0.682	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		7	84	1	0	8.12818e-05	1	8.99451e-05	7	84				
UBL4B	164153	broad.mit.edu	37	1	110655424	110655424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110655424C>A	ENST00000334179.3	+	1	363	c.268C>A	c.(268-270)Ctg>Atg	p.L90M		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	90						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GACCCAGCCCCTGTGGCACCA	0.592																																						ENST00000334179.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(268-270)Ctg>Atg		ubiquitin-like 4B							60.0	66.0	64.0					1																	110655424		2203	4300	6503	SO:0001583	missense	164153					cytoplasm		g.chr1:110655424C>A		CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.268C>A	1.37:g.110655424C>A	ENSP00000334044:p.Leu90Met						p.L90M	NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	363	+		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	90						Missense_Mutation	SNP	ENST00000334179.3	37	c.268C>A	CCDS820.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618759	0.28801	.	.	ENSG00000186150	ENST00000334179	.	.	.	4.38	1.24	0.21308	.	0.210187	0.31257	N	0.007964	T	0.34048	0.0884	L	0.54323	1.7	0.25398	N	0.988468	D	0.76494	0.999	D	0.66716	0.946	T	0.09818	-1.0657	9	0.66056	D	0.02	-15.3791	3.478	0.07591	0.0:0.4603:0.1966:0.343	.	90	Q8N7F7	UBL4B_HUMAN	M	90	.	ENSP00000334044:L90M	L	+	1	2	UBL4B	110456947	0.180000	0.23148	0.996000	0.52242	0.125000	0.20455	-0.014000	0.12656	0.474000	0.27392	0.561000	0.74099	CTG		0.592	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412		9	89	1	0	2.27111e-07	1	2.66951e-07	9	89				
CADM1	23705	broad.mit.edu	37	11	115111118	115111118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111118C>T	ENST00000452722.3	-	2	167	c.147G>A	c.(145-147)acG>acA	p.T49T	CADM1_ENST00000331581.6_Silent_p.T49T|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.T49T|CADM1_ENST00000542447.2_Silent_p.T49T|CADM1_ENST00000536727.1_Silent_p.T49T	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCACGTCTTTCGTAAACAGAT	0.428																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(145-147)acG>acA		cell adhesion molecule 1							88.0	82.0	84.0					11																	115111118		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115111118C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.147G>A	11.37:g.115111118C>T						CADM1_ENST00000536727.1_Silent_p.T49T|CADM1_ENST00000537058.1_Silent_p.T49T|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Silent_p.T49T|CADM1_ENST00000331581.6_Silent_p.T49T	p.T49T	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	2	275	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	49			Ig-like V-type.			Silent	SNP	ENST00000452722.3	37	c.147G>A	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.080|8.080	0.772110|0.772110	0.16051|0.16051	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000543249	.|.	.|.	.|.	5.97|5.97	-5.87|-5.87	0.02297|0.02297	.|.	.|.	.|.	.|.	.|.	T|T	0.39572|0.39572	0.1083|0.1083	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40979|0.40979	-0.9534|-0.9534	4|4	.|.	.|.	.|.	.|.	4.3575|4.3575	0.11185|0.11185	0.0958:0.2225:0.1426:0.5392|0.0958:0.2225:0.1426:0.5392	.|.	.|.	.|.	.|.	K|Q	48|33	.|.	.|.	E|R	-|-	1|2	0|0	CADM1|CADM1	114616328|114616328	0.000000|0.000000	0.05858|0.05858	0.927000|0.927000	0.36925|0.36925	0.984000|0.984000	0.73092|0.73092	-4.010000|-4.010000	0.00314|0.00314	-0.949000|-0.949000	0.03663|0.03663	-0.145000|-0.145000	0.13849|0.13849	GAA|CGA		0.428	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		17	23	0	0	0	1	0	17	23				
PHF3	23469	broad.mit.edu	37	6	64395427	64395427	+	Missense_Mutation	SNP	G	G	A	rs200059706		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64395427G>A	ENST00000262043.3	+	4	2144	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	PHF3_ENST00000509330.1_Missense_Mutation_p.A602T|PHF3_ENST00000393387.1_Missense_Mutation_p.A602T			Q92576	PHF3_HUMAN	PHD finger protein 3	602					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCACACGCTCATCCTGG	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19721	0.0		0.0	False		,,,				2504	0.0				GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1804-1806)Gct>Act		PHD finger protein 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	77.0	71.0	73.0		1804	4.0	0.0	6		73	0,8600		0,0,4300	yes	missense	PHF3	NM_015153.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	602/2040	64395427	1,13005	2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395427G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1804G>A	6.37:g.64395427G>A	ENSP00000262043:p.Ala602Thr					PHF3_ENST00000393387.1_Missense_Mutation_p.A602T|PHF3_ENST00000509330.1_Missense_Mutation_p.A602T	p.A602T			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	2144	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		602					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1804G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	0.358	-0.940916	0.02322	2.27E-4	0.0	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.41065	2.34;2.02;2.33;2.01;1.01;2.33	5.77	3.99	0.46301	.	0.376734	0.19432	N	0.114420	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.003;0.087	B;B	0.13407	0.002;0.009	T	0.30592	-0.9973	10	0.15952	T	0.53	-10.1744	9.4204	0.38548	0.2314:0.0:0.7686:0.0	.	602;602	Q92576;D6R9X2	PHF3_HUMAN;.	T	416;514;602;555;602;602	ENSP00000424694:A416T;ENSP00000425227:A514T;ENSP00000262043:A602T;ENSP00000424078:A555T;ENSP00000422841:A602T;ENSP00000377048:A602T	ENSP00000262043:A602T	A	+	1	0	PHF3	64453386	0.000000	0.05858	0.038000	0.18304	0.032000	0.12392	0.314000	0.19432	0.785000	0.33685	0.591000	0.81541	GCT		0.408	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			17	28	0	0	0	1	0	17	28				
RBM26	64062	broad.mit.edu	37	13	79911338	79911338	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79911338G>T	ENST00000438737.2	-	19	3072	c.2632C>A	c.(2632-2634)Cga>Aga	p.R878R	RBM26_ENST00000438724.1_Silent_p.R854R|RBM26_ENST00000267229.7_Silent_p.R851R			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	878					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCACACCTCGCCCTCGCCCT	0.562																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2632-2634)Cga>Aga		RNA binding motif protein 26							114.0	93.0	100.0					13																	79911338		2203	4300	6503	SO:0001819	synonymous_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79911338G>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2632C>A	13.37:g.79911338G>T						RBM26_ENST00000438724.1_Silent_p.R854R|RBM26_ENST00000267229.7_Silent_p.R851R	p.R878R			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	19	3072	-		Acute lymphoblastic leukemia(28;0.0279)	878					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37	c.2632C>A																																																																																					0.562	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		10	22	1	0	1.08611e-07	1	1.2824e-07	10	22				
H6PD	9563	broad.mit.edu	37	1	9324806	9324806	+	Missense_Mutation	SNP	C	C	T	rs527723676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9324806C>T	ENST00000377403.2	+	5	2556	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	H6PD_ENST00000602477.1_Missense_Mutation_p.R763C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	752	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGATGAAGCGTGAGATCAC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		20503	0.0		0.001	False		,,,				2504	0.0					ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2254-2256)Cgt>Tgt		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						35.0	32.0	33.0					1																	9324806		2203	4298	6501	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324806C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2254C>T	1.37:g.9324806C>T	ENSP00000366620:p.Arg752Cys					H6PD_ENST00000602477.1_Missense_Mutation_p.R763C	p.R752C	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2556	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	752			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2254C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662651	0.67700	.	.	ENSG00000049239	ENST00000377403	T	0.46819	0.86	5.45	3.32	0.38043	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.193977	0.50627	D	0.000113	T	0.66733	0.2819	M	0.84585	2.705	0.44668	D	0.997651	D	0.67145	0.996	P	0.57846	0.828	T	0.75886	-0.3159	10	0.87932	D	0	-9.7849	14.9824	0.71321	0.2701:0.7299:0.0:0.0	.	752	O95479	G6PE_HUMAN	C	752	ENSP00000366620:R752C	ENSP00000366620:R752C	R	+	1	0	H6PD	9247393	1.000000	0.71417	0.988000	0.46212	0.901000	0.52897	4.565000	0.60836	1.261000	0.44149	0.561000	0.74099	CGT		0.647	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		7	18	0	0	0	1	0	7	18				
MTG1	92170	broad.mit.edu	37	10	135204907	135204907	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135204907G>A	ENST00000317502.6	+	0	0				PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.P442P|MTG1_ENST00000477902.2_5'Flank|PAOX_ENST00000480071.2_3'UTR|RP11-108K14.8_ENST00000468317.2_Silent_p.P34P|PAOX_ENST00000278060.5_Missense_Mutation_p.R495H	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GAGGCCGACCGCCTCCTCAGT	0.662																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1483-1485)cGc>cAc		polyamine oxidase (exo-N4-amino)							48.0	52.0	51.0					10																	135204907		2202	4298	6500	SO:0001631	upstream_gene_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135204907G>A		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564		10.37:g.135204907G>A	Exception_encountered					PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|RP11-108K14.8_ENST00000468317.2_Silent_p.P34P|PAOX_ENST00000357296.3_Silent_p.P442P|PAOX_ENST00000480071.2_3'UTR	p.R495H	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	7	1567	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	633					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.1484G>A	CCDS31320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.5|24.5	4.533657|4.533657	0.85812|0.85812	.|.	.|.	ENSG00000148832|ENSG00000148832	ENST00000368544;ENST00000368534|ENST00000368542;ENST00000368538;ENST00000278060	.|D	.|0.94046	.|-3.34	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.050999	.|0.85682	.|D	.|0.000000	D|D	0.96386|0.96386	0.8821|0.8821	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.95980|0.95980	0.8977|0.8977	5|9	0.87932|0.48119	D|T	0|0.1	-34.9635|-34.9635	15.9313|15.9313	0.79663|0.79663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|495	.|Q6QHF9-2	.|.	T|H	54;84|447;216;495	.|ENSP00000278060:R495H	ENSP00000357522:A84T|ENSP00000278060:R495H	A|R	+|+	1|2	0|0	PAOX|PAOX	135054897|135054897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.514000|0.514000	0.34195|0.34195	6.939000|6.939000	0.75911|0.75911	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.662	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		24	44	0	0	0	1	0	24	44				
ACAA2	10449	broad.mit.edu	37	18	47329192	47329192	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47329192G>T	ENST00000285093.10	-	2	523	c.48C>A	c.(46-48)ccC>ccA	p.P16P	ACAA2_ENST00000587994.1_Silent_p.P13P|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	16					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						AAGCTCCAAAGGGCGTTCGCT	0.448																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.(46-48)ccC>ccA		acetyl-CoA acyltransferase 2							108.0	99.0	102.0					18																	47329192		2203	4300	6503	SO:0001819	synonymous_variant	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47329192G>T	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.48C>A	18.37:g.47329192G>T						RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR|ACAA2_ENST00000587994.1_Silent_p.P13P	p.P16P	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			2	523	-			16					Q9BUT6	Silent	SNP	ENST00000285093.10	37	c.48C>A	CCDS11939.1																																																																																				0.448	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		10	68	1	0	1.58986e-06	1	1.84011e-06	10	68				
SRCAP	10847	broad.mit.edu	37	16	30735405	30735405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30735405G>A	ENST00000262518.4	+	25	5045	c.4660G>A	c.(4660-4662)Gct>Act	p.A1554T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A1492T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1396T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1554	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAGCTTCGGCTCTGGCCAG	0.587																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(4660-4662)Gct>Act		Snf2-related CREBBP activator protein							72.0	59.0	63.0					16																	30735405		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735405G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4660G>A	16.37:g.30735405G>A	ENSP00000262518:p.Ala1554Thr					SRCAP_ENST00000344771.4_Missense_Mutation_p.A1396T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1492T	p.A1554T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5045	+			1554			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4660G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	9.440	1.087830	0.20390	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93488	-2.86;-3.23;-2.94	5.65	5.65	0.86999	.	0.000000	0.53938	D	0.000050	D	0.88157	0.6361	N	0.19112	0.55	0.09310	N	0.999993	P;B;B	0.42518	0.782;0.42;0.296	B;B;B	0.38712	0.28;0.143;0.068	T	0.82374	-0.0489	10	0.40728	T	0.16	-14.3298	17.2314	0.86985	0.0:0.0:1.0:0.0	.	1396;1492;1554	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1554;1492;1396	ENSP00000262518:A1554T;ENSP00000378499:A1492T;ENSP00000343042:A1396T	ENSP00000262518:A1554T	A	+	1	0	SRCAP	30642906	0.260000	0.24053	0.997000	0.53966	0.792000	0.44763	0.923000	0.28757	2.667000	0.90743	0.460000	0.39030	GCT		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		19	29	0	0	0	1	0	19	29				
AHDC1	27245	broad.mit.edu	37	1	27875328	27875328	+	Missense_Mutation	SNP	C	C	T	rs201371526		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27875328C>T	ENST00000247087.5	-	5	3895	c.3299G>A	c.(3298-3300)cGg>cAg	p.R1100Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.R1100Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1100							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGCAAACTGCCGACAGTTCTC	0.627																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3298-3300)cGg>cAg		AT hook, DNA binding motif, containing 1							28.0	33.0	31.0					1																	27875328		2201	4295	6496	SO:0001583	missense	27245						DNA binding	g.chr1:27875328C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3299G>A	1.37:g.27875328C>T	ENSP00000247087:p.Arg1100Gln					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R1100Q	p.R1100Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4267	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1100					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.3299G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963781	0.53507	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.62232	0.04;0.04	5.79	5.79	0.91817	.	0.092388	0.41194	D	0.000923	T	0.68632	0.3022	N	0.24115	0.695	0.49130	D	0.999755	D	0.76494	0.999	D	0.65684	0.937	T	0.71593	-0.4546	10	0.66056	D	0.02	-13.4941	18.7978	0.92003	0.0:1.0:0.0:0.0	.	1100	Q5TGY3	AHDC1_HUMAN	Q	1100	ENSP00000247087:R1100Q;ENSP00000363123:R1100Q	ENSP00000247087:R1100Q	R	-	2	0	AHDC1	27747915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.589000	0.74080	2.735000	0.93741	0.655000	0.94253	CGG		0.627	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			16	25	0	0	0	1	0	16	25				
POLR1C	9533	broad.mit.edu	37	6	43484913	43484913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43484913C>T	ENST00000372389.3	+	1	154	c.66C>T	c.(64-66)cgC>cgT	p.R22R	YIPF3_ENST00000506469.1_5'Flank|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Silent_p.R22R|YIPF3_ENST00000372422.2_5'Flank|POLR1C_ENST00000304004.3_Silent_p.R22R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	22					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGGGGTTCGCAATGTAAGCC	0.592																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(64-66)cgC>cgT		polymerase (RNA) I polypeptide C, 30kDa							150.0	151.0	151.0					6																	43484913		2203	4300	6503	SO:0001819	synonymous_variant	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43484913C>T	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.66C>T	6.37:g.43484913C>T						POLR1C_ENST00000304004.3_Silent_p.R22R|POLR1C_ENST00000372344.2_Silent_p.R22R	p.R22R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		1	154	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		22					O75395|Q5JTE3	Silent	SNP	ENST00000372389.3	37	c.66C>T	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	C	4.809	0.150498	0.09185	.	.	ENSG00000171453	ENST00000423780	.	.	.	5.17	2.1	0.27182	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4917	12.1639	0.54119	0.1253:0.6529:0.2218:0.0	.	.	.	.	X	22	.	.	Q	+	1	0	POLR1C	43592891	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	0.771000	0.26633	1.139000	0.42245	0.558000	0.71614	CAA		0.592	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		5	104	0	0	0	1	0	5	104				
CUX1	1523	broad.mit.edu	37	7	101845057	101845057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101845057C>T	ENST00000292535.7	+	18	2518	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	CUX1_ENST00000550008.2_Missense_Mutation_p.A771V|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A669V|CUX1_ENST00000546411.2_Missense_Mutation_p.A725V|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.A838V|CUX1_ENST00000549414.2_Missense_Mutation_p.A805V|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	827					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGGTGGAGCGCGGTGCAGCCG	0.662																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2512-2514)gCg>gTg		cut-like homeobox 1							23.0	26.0	25.0					7																	101845057		2202	4300	6502	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845057C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2480C>T	7.37:g.101845057C>T	ENSP00000292535:p.Ala827Val					CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A725V|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A669V|CUX1_ENST00000550008.2_Missense_Mutation_p.A771V|CUX1_ENST00000549414.2_Missense_Mutation_p.A805V|CUX1_ENST00000292535.7_Missense_Mutation_p.A827V|CUX1_ENST00000393824.3_Intron	p.A838V	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2533	+			827					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2513C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109900	0.37242	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25	5.44	5.44	0.79542	.	0.309940	0.34338	N	0.004048	T	0.42720	0.1215	N	0.14661	0.345	0.80722	D	1	B;B	0.26975	0.103;0.165	B;B	0.22152	0.01;0.038	T	0.25398	-1.0133	10	0.25106	T	0.35	0.0625	19.279	0.94044	0.0:1.0:0.0:0.0	.	827;838	P39880;P39880-3	CUX1_HUMAN;.	V	838;827;805;771;725;669	ENSP00000353401:A838V;ENSP00000292535:A827V;ENSP00000446630:A805V;ENSP00000447373:A771V;ENSP00000450125:A725V;ENSP00000451558:A669V	ENSP00000292535:A827V	A	+	2	0	CUX1	101631777	0.996000	0.38824	0.639000	0.29394	0.394000	0.30568	3.396000	0.52565	2.560000	0.86352	0.655000	0.94253	GCG		0.662	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		18	18	0	0	0	1	0	18	18				
NDRG4	65009	broad.mit.edu	37	16	58538092	58538092	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538092G>T	ENST00000570248.1	+	3	268	c.162G>T	c.(160-162)gaG>gaT	p.E54D	NDRG4_ENST00000356752.4_Missense_Mutation_p.E84D|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000563799.1_Missense_Mutation_p.E72D|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Missense_Mutation_p.E72D|NDRG4_ENST00000394279.2_Missense_Mutation_p.E86D|NDRG4_ENST00000562999.1_Missense_Mutation_p.E54D|NDRG4_ENST00000394282.4_Missense_Mutation_p.E106D|NDRG4_ENST00000258187.5_Missense_Mutation_p.E86D|NDRG4_ENST00000566192.1_Missense_Mutation_p.E54D	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	54					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAACTTCGAGGACATGCAGG	0.577																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(316-318)gaG>gaT		NDRG family member 4							127.0	127.0	127.0					16																	58538092		2198	4300	6498	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538092G>T	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.162G>T	16.37:g.58538092G>T	ENSP00000457659:p.Glu54Asp					NDRG4_ENST00000258187.5_Missense_Mutation_p.E86D|NDRG4_ENST00000566192.1_Missense_Mutation_p.E54D|NDRG4_ENST00000563799.1_Missense_Mutation_p.E72D|NDRG4_ENST00000562999.1_Missense_Mutation_p.E54D|NDRG4_ENST00000394279.2_Missense_Mutation_p.E86D|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000356752.4_Missense_Mutation_p.E84D|NDRG4_ENST00000570248.1_Missense_Mutation_p.E54D|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Missense_Mutation_p.E72D	p.E106D	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			5	725	+			54					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.318G>T	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580749	0.46006	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.25	1.67	0.24075	.	0.050540	0.85682	D	0.000000	T	0.36524	0.0970	M	0.81497	2.545	0.48762	D	0.999703	B;P;P;B;B;B;B	0.49559	0.311;0.667;0.925;0.1;0.111;0.183;0.183	B;B;P;B;B;B;B	0.56474	0.312;0.39;0.799;0.042;0.145;0.104;0.104	T	0.10042	-1.0647	10	0.42905	T	0.14	-18.8338	7.8221	0.29294	0.2126:0.0:0.6584:0.129	.	72;84;72;54;54;106;86	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	D	86;106;86;84	ENSP00000258187:E86D;ENSP00000377823:E106D;ENSP00000377820:E86D;ENSP00000349193:E84D	ENSP00000258187:E86D	E	+	3	2	NDRG4	57095593	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.504000	0.35726	0.580000	0.29522	0.561000	0.74099	GAG		0.577	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			9	118	1	0	1.76689e-08	1	2.11513e-08	9	118				
GSN	2934	broad.mit.edu	37	9	124079496	124079496	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124079496G>A	ENST00000373818.4	+	7	1108	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	GSN_ENST00000545652.1_Splice_Site_p.G304S|GSN_ENST00000373807.1_Splice_Site_p.G78S|GSN_ENST00000436847.1_Splice_Site_p.G307S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000394353.2_Splice_Site_p.G307S|GSN_ENST00000412819.1_Splice_Site_p.G296S|GSN_ENST00000373823.3_Splice_Site_p.G296S|GSN_ENST00000449733.1_Splice_Site_p.G296S|GSN_ENST00000341272.2_Splice_Site_p.G296S|GSN_ENST00000373808.2_Splice_Site_p.G296S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	347					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGGAAAGGTACTGGAGA	0.577																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e15+1		gelsolin							104.0	105.0	105.0					9																	124079496		2203	4300	6503	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124079496G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1039+1G>A	9.37:g.124079496G>A						GSN_ENST00000436847.1_Splice_Site_p.G307_splice|GSN_ENST00000449733.1_Splice_Site_p.G296_splice|GSN_ENST00000373807.1_Splice_Site_p.G78_splice|GSN_ENST00000373818.4_Splice_Site_p.G347_splice|GSN_ENST00000394353.2_Splice_Site_p.G307_splice|GSN_ENST00000341272.2_Splice_Site_p.G296_splice|GSN_ENST00000373808.2_Splice_Site_p.G296_splice|GSN_ENST00000412819.1_Splice_Site_p.G296_splice|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000545652.1_Splice_Site_p.G304_splice	p.G296_splice			P06396	GELS_HUMAN			15	1791	+			347					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37	c.886_splice	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271154	0.95429	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	D;D;D;D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	4.68	4.68	0.58851	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.995;1.0;1.0;0.987;1.0	D	0.98444	1.0588	10	0.87932	D	0	-25.598	15.1105	0.72351	0.0:0.0:1.0:0.0	.	320;304;307;78;347	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	S	296;307;307;296;296;296;296;280;270;304;347;78	ENSP00000362929:G296S;ENSP00000411293:G307S;ENSP00000377882:G307S;ENSP00000409358:G296S;ENSP00000416586:G296S;ENSP00000340888:G296S;ENSP00000362914:G296S;ENSP00000445823:G304S;ENSP00000362924:G347S;ENSP00000362913:G78S	ENSP00000340888:G296S	G	+	1	0	GSN	123119317	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.255000	0.95524	2.317000	0.78254	0.561000	0.74099	GGC		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Missense_Mutation	47	96	0	0	0	1	0	47	96				
ARHGAP20	57569	broad.mit.edu	37	11	110451054	110451054	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451054G>T	ENST00000260283.4	-	16	2900	c.2616C>A	c.(2614-2616)agC>agA	p.S872R	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S846R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S415R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S849R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S846R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	872					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAGCTTCACAGCTGGTTTTAT	0.463																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(2614-2616)agC>agA		Rho GTPase activating protein 20							118.0	116.0	117.0					11																	110451054		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451054G>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2616C>A	11.37:g.110451054G>T	ENSP00000260283:p.Ser872Arg					ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S846R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S849R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S415R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S846R	p.S872R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2900	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	872					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2616C>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146667	0.57151	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.71;1.63;1.65;1.63;1.65	5.14	2.15	0.27550	.	0.308273	0.35040	N	0.003496	T	0.50394	0.1613	M	0.69823	2.125	0.30603	N	0.760345	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.983;0.992	T	0.54964	-0.8214	10	0.87932	D	0	.	10.7738	0.46338	0.0679:0.2439:0.6883:0.0	.	846;872;849	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	R	872;846;415;849;836;846;836	ENSP00000260283:S872R;ENSP00000349660:S846R;ENSP00000437905:S415R;ENSP00000432076:S849R;ENSP00000436319:S836R;ENSP00000436522:S846R;ENSP00000431399:S836R	ENSP00000260283:S872R	S	-	3	2	ARHGAP20	109956264	1.000000	0.71417	0.949000	0.38748	0.881000	0.50899	4.563000	0.60823	0.726000	0.32339	-0.165000	0.13383	AGC		0.463	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		9	117	1	0	3.09899e-07	1	3.63227e-07	9	117				
KCNK5	8645	broad.mit.edu	37	6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(781-783)Cgg>Tgg		potassium channel, subfamily K, member 5							80.0	87.0	85.0					6																	39159385		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159385G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.781C>T	6.37:g.39159385G>A	ENSP00000352527:p.Arg261Trp						p.R261W	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1119	-			261					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.781C>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937209	0.73557	.	.	ENSG00000164626	ENST00000359534	T	0.24908	1.83	5.05	3.21	0.36854	.	1.981190	0.02302	N	0.071281	T	0.19967	0.0480	L	0.27053	0.805	0.33933	D	0.642272	D	0.69078	0.997	P	0.53313	0.723	T	0.05649	-1.0872	10	0.72032	D	0.01	.	13.4361	0.61084	0.0:0.0:0.4228:0.5772	.	261	O95279	KCNK5_HUMAN	W	261	ENSP00000352527:R261W	ENSP00000352527:R261W	R	-	1	2	KCNK5	39267363	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.697000	0.54764	0.596000	0.29794	0.561000	0.74099	CGG		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		9	105	0	0	0	1	0	9	105				
SIGLEC8	27181	broad.mit.edu	37	19	51958909	51958909	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958909A>C	ENST00000321424.3	-	4	880	c.814T>G	c.(814-816)Tca>Gca	p.S272A	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S163A|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S179A|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	272	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAAGGACTGAAAGAGATGAG	0.562																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(814-816)Tca>Gca		sialic acid binding Ig-like lectin 8							68.0	68.0	68.0					19																	51958909		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958909A>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.814T>G	19.37:g.51958909A>C	ENSP00000321077:p.Ser272Ala					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S163A|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S179A	p.S272A	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	880	-		all_neural(266;0.0199)	272			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.814T>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386516	0.25031	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.12569	2.67;2.67;2.67	1.95	-1.83	0.07833	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.917230	0.03484	U	0.215603	T	0.22244	0.0536	L	0.52905	1.665	0.09310	N	1	D;D;P	0.55385	0.961;0.971;0.89	P;P;P	0.57204	0.815;0.559;0.636	T	0.31943	-0.9925	10	0.19590	T	0.45	.	5.1489	0.15000	0.5118:0.0:0.4882:0.0	.	163;179;272	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	A	163;272;179	ENSP00000389142:S163A;ENSP00000321077:S272A;ENSP00000339448:S179A	ENSP00000321077:S272A	S	-	1	0	SIGLEC8	56650721	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.295000	0.01143	-0.332000	0.08489	-0.490000	0.04691	TCA		0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		4	41	0	0	0	1	0	4	41				
GPAA1	8733	broad.mit.edu	37	8	145139388	145139388	+	Missense_Mutation	SNP	C	C	T	rs556111952		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139388C>T	ENST00000355091.4	+	7	1007	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	GPAA1_ENST00000361036.6_Missense_Mutation_p.R236W|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	296					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTTCTGCGGCAGGCCTC	0.627																																						ENST00000355091.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19						c.(886-888)Cgg>Tgg		glycosylphosphatidylinositol anchor attachment 1							35.0	40.0	39.0					8																	145139388		2044	4187	6231	SO:0001583	missense	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145139388C>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.886C>T	8.37:g.145139388C>T	ENSP00000347206:p.Arg296Trp					GPAA1_ENST00000361036.6_Missense_Mutation_p.R236W|GPAA1_ENST00000527144.1_3'UTR	p.R296W	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1007	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		296					Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.886C>T	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318606	0.60524	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036	.	.	.	5.44	4.54	0.55810	.	0.302744	0.30920	N	0.008617	T	0.50565	0.1623	L	0.49778	1.585	0.36872	D	0.888952	D;D	0.60160	0.964;0.987	P;P	0.47075	0.536;0.528	T	0.58289	-0.7662	9	0.40728	T	0.16	-18.0365	10.9396	0.47266	0.3816:0.6184:0.0:0.0	.	296;236	O43292;O43292-2	GPAA1_HUMAN;.	W	296;224;236	.	ENSP00000347206:R296W	R	+	1	2	GPAA1	145211376	1.000000	0.71417	0.996000	0.52242	0.682000	0.39822	2.504000	0.45416	1.227000	0.43598	0.561000	0.74099	CGG		0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		10	24	0	0	0	1	0	10	24				
PSMA3	5684	broad.mit.edu	37	14	58737155	58737155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58737155G>A	ENST00000216455.4	+	9	700	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RP11-349A22.5_ENST00000554360.1_RNA|PSMA3_ENST00000557508.1_Missense_Mutation_p.E129K|CTD-2002H8.2_ENST00000557322.1_RNA|PSMA3_ENST00000412908.2_Missense_Mutation_p.E197K|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000556225.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	204					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AGTACATGACGAAGTTAAGGA	0.348																																						ENST00000216455.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						c.(610-612)Gaa>Aaa		proteasome (prosome, macropain) subunit, alpha type, 3							136.0	135.0	136.0					14																	58737155		2203	4299	6502	SO:0001583	missense	5684				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr14:58737155G>A		CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.610G>A	14.37:g.58737155G>A	ENSP00000216455:p.Glu204Lys					PSMA3_ENST00000412908.2_Missense_Mutation_p.E197K|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|PSMA3_ENST00000557508.1_Missense_Mutation_p.E129K	p.E204K	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN			9	700	+			204					B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	ENST00000216455.4	37	c.610G>A	CCDS9731.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641203	0.67244	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508;ENST00000553677	T;T;T	0.22336	1.96;1.96;1.96	5.0	5.0	0.66597	.	0.084960	0.85682	D	0.000000	T	0.34164	0.0888	M	0.89785	3.06	0.80722	D	1	B;B	0.33904	0.431;0.255	B;B	0.26770	0.068;0.073	T	0.46707	-0.9172	10	0.66056	D	0.02	0.0818	18.4404	0.90665	0.0:0.0:1.0:0.0	.	197;204	P25788-2;P25788	.;PSA3_HUMAN	K	204;197;129;32	ENSP00000216455:E204K;ENSP00000390491:E197K;ENSP00000452056:E129K	ENSP00000216455:E204K	E	+	1	0	PSMA3	57806908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.036000	0.88901	2.762000	0.94881	0.591000	0.81541	GAA		0.348	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		35	76	0	0	0	1	0	35	76				
SUPT5H	6829	broad.mit.edu	37	19	39948334	39948334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39948334G>T	ENST00000599117.1	+	5	628	c.261G>T	c.(259-261)gaG>gaT	p.E87D	SUPT5H_ENST00000402194.2_Missense_Mutation_p.E87D|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E87D|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E87D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E87D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	87	Glu-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAGTATGAGGACGAGGACC	0.537																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(259-261)gaG>gaT		suppressor of Ty 5 homolog (S. cerevisiae)							241.0	197.0	212.0					19																	39948334		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39948334G>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.261G>T	19.37:g.39948334G>T	ENSP00000470252:p.Glu87Asp					SUPT5H_ENST00000359191.6_Missense_Mutation_p.E87D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E87D|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E87D|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E87D	p.E87D			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	628	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		87			Glu-rich.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.261G>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.357918	0.24598	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	3.94	-1.83	0.07833	Spt5 transcription elongation factor, N-terminal (1);	0.135690	0.48767	D	0.000176	T	0.31918	0.0812	L	0.31752	0.955	0.58432	D	0.999996	B;B;B	0.33883	0.43;0.044;0.054	B;B;B	0.31869	0.137;0.041;0.069	T	0.04053	-1.0981	8	.	.	.	-17.08	8.785	0.34814	0.7838:0.0:0.2162:0.0	.	87;87;87	B4DHJ8;O00267-2;O00267	.;.;SPT5H_HUMAN	D	87;87;65;87	.	.	E	+	3	2	SUPT5H	44640174	0.997000	0.39634	0.985000	0.45067	0.836000	0.47400	0.383000	0.20651	-0.091000	0.12440	0.313000	0.20887	GAG		0.537	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		7	76	1	0	0.000157383	1	0.00017284	7	76				
BNC2	54796	broad.mit.edu	37	9	16727882	16727882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:16727882G>A	ENST00000380672.4	-	3	300	c.243C>T	c.(241-243)ttC>ttT	p.F81F	BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron|RP11-62F24.2_ENST00000450445.1_RNA|BNC2_ENST00000380666.2_Silent_p.F81F	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCTGGTTCCGAACTGCATGG	0.468																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(241-243)ttC>ttT		basonuclin 2							261.0	231.0	241.0					9																	16727882		2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16727882G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.243C>T	9.37:g.16727882G>A						BNC2_ENST00000380666.2_Silent_p.F81F|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron	p.F81F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	3	300	-			81						Silent	SNP	ENST00000380672.4	37	c.243C>T	CCDS6482.2																																																																																				0.468	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		54	87	0	0	0	1	0	54	87				
LRRC14	9684	broad.mit.edu	37	8	145741146	145741146	+	5'Flank	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145741146A>G	ENST00000292524.1	+	0	0				CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Splice_Site|RECQL4_ENST00000532237.1_Splice_Site	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATGTCTCACCTGGCCGGG	0.592																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.e6+1	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							31.0	35.0	34.0					8																	145741146		2031	4157	6188	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741146A>G	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741146A>G	Exception_encountered					RECQL4_ENST00000532237.1_Splice_Site		NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		6	1300	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							A8K0A8|D3DWM8	Splice_Site	SNP	ENST00000292524.1	37		CCDS6432.1																																																																																				0.592	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		7	9	0	0	0	1	0	7	9				
TYK2	7297	broad.mit.edu	37	19	10463722	10463722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463722C>T	ENST00000525621.1	-	22	3561	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.R1027H|TYK2_ENST00000524462.1_Missense_Mutation_p.R842H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1027	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R1027H(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCACGTTGCGCGCGGCTAG	0.662																																						ENST00000525621.1																			1	Substitution - Missense(1)	p.R1027H(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3079-3081)cGc>cAc		tyrosine kinase 2							62.0	53.0	56.0					19																	10463722		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463722C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3080G>A	19.37:g.10463722C>T	ENSP00000431885:p.Arg1027His					TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.R1027H|TYK2_ENST00000524462.1_Missense_Mutation_p.R842H	p.R1027H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		22	3561	-			1027			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.3080G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	36	5.740193	0.96873	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.112982	0.38005	N	0.001846	D	0.93236	0.7845	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93875	0.7166	10	0.87932	D	0	-45.9125	16.7091	0.85380	0.0:1.0:0.0:0.0	.	1027	P29597	TYK2_HUMAN	H	842;1027;1027;774;50	ENSP00000433203:R842H;ENSP00000431885:R1027H;ENSP00000264818:R1027H;ENSP00000436155:R50H	ENSP00000264818:R1027H	R	-	2	0	TYK2	10324722	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.712000	0.84684	2.566000	0.86566	0.555000	0.69702	CGC		0.662	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			9	16	0	0	0	1	0	9	16				
FAM47A	158724	broad.mit.edu	37	X	34149819	34149819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34149819C>T	ENST00000346193.3	-	1	628	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	193	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCGGAGTCTCGGGAGGCTTC	0.612													C|||	1	0.000264901	0.0	0.0	3775	,	,		11156	0.001		0.0	False		,,,				2504	0.0					ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(577-579)Gag>Aag		family with sequence similarity 47, member A							56.0	60.0	59.0					X																	34149819		2199	4295	6494	SO:0001583	missense	158724							g.chrX:34149819C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.577G>A	X.37:g.34149819C>T	ENSP00000345029:p.Glu193Lys						p.E193K	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	628	-			193			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.577G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	2.201	-0.382943	0.04966	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.603	-1.21	0.09524	.	.	.	.	.	T	0.15132	0.0365	L	0.61218	1.895	0.09310	N	1	P	0.46277	0.875	B	0.40982	0.345	T	0.24297	-1.0164	8	0.05620	T	0.96	.	.	.	.	.	193	Q5JRC9	FA47A_HUMAN	K	193	ENSP00000345029:E193K	ENSP00000345029:E193K	E	-	1	0	FAM47A	34059740	0.642000	0.27260	0.006000	0.13384	0.006000	0.05464	-1.191000	0.03055	-0.450000	0.07107	-0.480000	0.04831	GAG		0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		8	41	0	0	0	1	0	8	41				
MTERF2	80298	broad.mit.edu	37	12	107372068	107372068	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107372068G>T	ENST00000552029.1	-	2	2493	c.425C>A	c.(424-426)aCt>aAt	p.T142N	MTERFD3_ENST00000240050.4_Missense_Mutation_p.T142N|MTERFD3_ENST00000392830.2_Missense_Mutation_p.T142N|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCTTTAATAGTAAAGAAAGA	0.393																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(424-426)aCt>aAt		MTERF domain containing 3							70.0	75.0	73.0					12																	107372068		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372068G>T																												ENST00000552029.1:c.425C>A	12.37:g.107372068G>T	ENSP00000447651:p.Thr142Asn					C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.T142N|MTERFD3_ENST00000240050.4_Missense_Mutation_p.T142N	p.T142N			Q49AM1	MTER3_HUMAN			2	2493	-			142					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.425C>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861436	0.51482	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101	T;T;T;T	0.11495	2.84;2.84;2.84;2.77	5.95	2.05	0.26809	.	0.569908	0.19578	N	0.110929	T	0.09335	0.0230	L	0.54323	1.7	0.23010	N	0.998437	B	0.17038	0.02	B	0.21917	0.037	T	0.39522	-0.9610	10	0.14252	T	0.57	-19.8383	5.8166	0.18495	0.2106:0.0:0.654:0.1354	.	142	Q49AM1	MTER3_HUMAN	N	142	ENSP00000376575:T142N;ENSP00000240050:T142N;ENSP00000447651:T142N;ENSP00000448343:T142N	ENSP00000240050:T142N	T	-	2	0	MTERFD3	105896198	1.000000	0.71417	0.418000	0.26571	0.826000	0.46750	1.513000	0.35823	0.391000	0.25143	0.563000	0.77884	ACT		0.393	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			29	57	1	0	2.65835e-16	1	3.4289e-16	29	57				
MSL2	55167	broad.mit.edu	37	3	135871112	135871112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135871112C>A	ENST00000309993.2	-	2	1343	c.611G>T	c.(610-612)aGa>aTa	p.R204I	MSL2_ENST00000434835.2_Missense_Mutation_p.R130I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	204					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TATACCAAATCTATCTATTGA	0.388																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(610-612)aGa>aTa		male-specific lethal 2 homolog (Drosophila)							64.0	67.0	66.0					3																	135871112		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135871112C>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.611G>T	3.37:g.135871112C>A	ENSP00000311827:p.Arg204Ile					MSL2_ENST00000434835.2_Missense_Mutation_p.R130I	p.R204I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	1343	-			204					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.611G>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813596	0.32053	.	.	ENSG00000174579	ENST00000309993;ENST00000434835;ENST00000481989;ENST00000491050	.	.	.	6.06	5.09	0.68999	.	0.258640	0.34362	N	0.004035	T	0.27731	0.0682	N	0.08118	0	0.48696	D	0.99969	B	0.25105	0.118	B	0.22753	0.041	T	0.15492	-1.0435	9	0.44086	T	0.13	-10.6744	4.6197	0.12444	0.0:0.7379:0.0:0.2621	.	204	Q9HCI7	MSL2_HUMAN	I	204;130;130;130	.	ENSP00000311827:R204I	R	-	2	0	MSL2	137353802	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.329000	0.59260	2.882000	0.98803	0.655000	0.94253	AGA		0.388	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		20	29	1	0	1.87028e-06	1	2.164e-06	20	29				
ODF3L2	284451	broad.mit.edu	37	19	463999	463999	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:463999C>T	ENST00000315489.4	-	4	950	c.715G>A	c.(715-717)Ggc>Agc	p.G239S	ODF3L2_ENST00000382696.3_Missense_Mutation_p.G203S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	239	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GCGCCAGGGCCGGGGGTCTCC	0.701																																						ENST00000315489.4																			0				large_intestine(1)|lung(2)	3						c.(715-717)Ggc>Agc		outer dense fiber of sperm tails 3-like 2							13.0	17.0	15.0					19																	463999		2187	4273	6460	SO:0001583	missense	284451							g.chr19:463999C>T	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.715G>A	19.37:g.463999C>T	ENSP00000318029:p.Gly239Ser					ODF3L2_ENST00000382696.3_Missense_Mutation_p.G203S	p.G239S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN			4	950	-			239			Pro-rich.		Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	c.715G>A	CCDS12027.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270620	0.59540	.	.	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.76448	-1.02;-1.02	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	M	0.92077	3.27	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92218	0.5782	10	0.72032	D	0.01	-17.6814	13.6061	0.62048	0.0:1.0:0.0:0.0	.	203;239	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	S	239;203	ENSP00000318029:G239S;ENSP00000372143:G203S	ENSP00000318029:G239S	G	-	1	0	ODF3L2	414999	1.000000	0.71417	0.051000	0.19133	0.025000	0.11179	6.769000	0.74985	1.850000	0.53721	0.555000	0.69702	GGC		0.701	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		6	7	0	0	0	1	0	6	7				
PTPRE	5791	broad.mit.edu	37	10	129877895	129877895	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129877895T>C	ENST00000254667.3	+	20	2243	c.1964T>C	c.(1963-1965)cTt>cCt	p.L655P	PTPRE_ENST00000306042.5_Missense_Mutation_p.L597P|PTPRE_ENST00000419012.2_Missense_Mutation_p.L655P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	655	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GCCGAGGGACTTTTAGATGTA	0.458																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1963-1965)cTt>cCt		protein tyrosine phosphatase, receptor type, E							104.0	101.0	102.0					10																	129877895		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877895T>C	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1964T>C	10.37:g.129877895T>C	ENSP00000254667:p.Leu655Pro					PTPRE_ENST00000306042.5_Missense_Mutation_p.L597P|PTPRE_ENST00000419012.2_Missense_Mutation_p.L655P	p.L655P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			20	2243	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	655			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1964T>C	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820817	0.71028	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	D;D;D	0.83163	-1.69;-1.69;-1.69	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000008	D	0.84638	0.5516	L	0.33753	1.03	0.80722	D	1	P;P;P	0.52463	0.953;0.942;0.953	P;P;P	0.59825	0.864;0.642;0.864	D	0.86754	0.1962	10	0.87932	D	0	.	14.5216	0.67853	0.0:0.0:0.0:1.0	.	655;597;655	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	P	655;655;597	ENSP00000254667:L655P;ENSP00000402337:L655P;ENSP00000303350:L597P	ENSP00000254667:L655P	L	+	2	0	PTPRE	129767885	0.998000	0.40836	0.157000	0.22605	0.868000	0.49771	7.760000	0.85248	2.070000	0.61991	0.533000	0.62120	CTT		0.458	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			4	82	0	0	0	1	0	4	82				
ZNRF2	223082	broad.mit.edu	37	7	30402073	30402073	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30402073G>A	ENST00000323037.4	+	4	1802		c.e4+1			NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TGTTTTATAGGTAATTTTTTT	0.328																																						ENST00000323037.4																			0				breast(1)|endometrium(1)|lung(2)|prostate(1)	5						c.e4+1		zinc and ring finger 2							65.0	68.0	67.0					7																	30402073		2203	4300	6503	SO:0001630	splice_region_variant	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30402073G>A	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.726+1G>A	7.37:g.30402073G>A								NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN			4	1802	+									Splice_Site	SNP	ENST00000323037.4	37		CCDS5426.1																																																																																				0.328	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128	Intron	14	42	0	0	0	1	0	14	42				
PIH1D2	120379	broad.mit.edu	37	11	111941312	111941312	+	Missense_Mutation	SNP	T	T	C	rs139191181		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111941312T>C	ENST00000280350.4	-	5	883	c.661A>G	c.(661-663)Att>Gtt	p.I221V	PIH1D2_ENST00000532211.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000530641.1_Missense_Mutation_p.I221V	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	221										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GTACTGGAAATCTCTTCTATC	0.408																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(661-663)Att>Gtt		PIH1 domain containing 2		T	VAL/ILE,VAL/ILE	0,4402		0,0,2201	183.0	181.0	181.0		661,661	5.8	1.0	11	dbSNP_134	181	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense	PIH1D2	NM_001082619.1,NM_138789.3	29,29	0,2,6496	CC,CT,TT		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	221/289,221/316	111941312	2,12994	2201	4297	6498	SO:0001583	missense	120379							g.chr11:111941312T>C	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.661A>G	11.37:g.111941312T>C	ENSP00000280350:p.Ile221Val					PIH1D2_ENST00000280350.4_Missense_Mutation_p.I221V|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I221V	p.I221V			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	5	986	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	221					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.661A>G	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.060485|4.060485	0.76074|0.76074	0.0|0.0	2.33E-4|2.33E-4	ENSG00000150773|ENSG00000150773	ENST00000525072|ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641	.|T;T;T;T;T	.|0.18016	.|2.24;2.24;2.24;2.24;2.24	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.323501	.|0.36303	.|N	.|0.002676	T|T	0.38188|0.38188	0.1031|0.1031	M|M	0.83603|0.83603	2.65|2.65	0.51767|0.51767	D|D	0.999936|0.999936	.|D;D;P	.|0.59767	.|0.976;0.986;0.771	.|P;P;P	.|0.55161	.|0.77;0.77;0.565	T|T	0.22695|0.22695	-1.0209|-1.0209	5|10	.|0.28530	.|T	.|0.3	-10.295|-10.295	15.897|15.897	0.79341|0.79341	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|221;221;221	.|B4DU48;E9PD82;Q8WWB5	.|.;.;PIHD2_HUMAN	G|V	176|221	.|ENSP00000434275:I221V;ENSP00000388209:I221V;ENSP00000431841:I221V;ENSP00000280350:I221V;ENSP00000431147:I221V	.|ENSP00000280350:I221V	D|I	-|-	2|1	0|0	PIH1D2|PIH1D2	111446522|111446522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	3.897000|3.897000	0.56273|0.56273	2.238000|2.238000	0.73509|0.73509	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.408	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		36	178	0	0	0	1	0	36	178				
KRT35	3886	broad.mit.edu	37	17	39635705	39635705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635705C>T	ENST00000393989.1	-	3	647	c.605G>A	c.(604-606)gGc>gAc	p.G202D	KRT35_ENST00000246639.2_Missense_Mutation_p.G172D	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	202	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTGCGCAGGCCGTTGATGTC	0.572																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(514-516)gGc>gAc		keratin 35							99.0	92.0	95.0					17																	39635705		2203	4300	6503	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635705C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.605G>A	17.37:g.39635705C>T	ENSP00000377558:p.Gly202Asp					KRT35_ENST00000393989.1_Missense_Mutation_p.G202D	p.G172D			Q92764	KRT35_HUMAN			3	647	-		Breast(137;0.000286)	202			Coil 1B.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.515G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575184	0.45902	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.88741	-2.42;-2.42	4.47	4.47	0.54385	Filament (1);	0.122314	0.36972	N	0.002312	D	0.94810	0.8324	M	0.91510	3.215	0.38597	D	0.950564	D	0.69078	0.997	D	0.68192	0.956	D	0.96048	0.9029	10	0.87932	D	0	.	12.1897	0.54264	0.0:0.9138:0.0:0.0862	.	202	Q92764	KRT35_HUMAN	D	172;202	ENSP00000246639:G172D;ENSP00000377558:G202D	ENSP00000246639:G172D	G	-	2	0	KRT35	36889231	0.012000	0.17670	0.235000	0.24058	0.069000	0.16628	2.595000	0.46197	2.456000	0.83038	0.655000	0.94253	GGC		0.572	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		31	37	0	0	0	1	0	31	37				
BBS9	27241	broad.mit.edu	37	7	33380508	33380508	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33380508G>A	ENST00000242067.6	+	11	1719		c.e11-1		BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000354265.4_Splice_Site|BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000396127.2_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAAATCACAGGTGTTTGGCC	0.308									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.e11-1		Bardet-Biedl syndrome 9							131.0	120.0	124.0					7																	33380508		2203	4300	6503	SO:0001630	splice_region_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33380508G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1199-1G>A	7.37:g.33380508G>A						BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000354265.4_Splice_Site		NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		11	1719	+								E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Splice_Site	SNP	ENST00000242067.6	37		CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651907	0.67472	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	.	.	.	4.48	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9389	0.58331	0.0818:0.0:0.9182:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS9	33347033	1.000000	0.71417	0.908000	0.35775	0.989000	0.77384	6.191000	0.72063	1.198000	0.43158	0.650000	0.86243	.		0.308	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		Intron	40	30	0	0	0	1	0	40	30				
DCLK3	85443	broad.mit.edu	37	3	36779337	36779337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36779337G>A	ENST00000416516.2	-	2	1304	c.814C>T	c.(814-816)Cat>Tat	p.H272Y		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	272						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCCACCATGTTTGCTCCTG	0.572																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(814-816)Cat>Tat		doublecortin-like kinase 3							94.0	98.0	97.0					3																	36779337		1966	4139	6105	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779337G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.814C>T	3.37:g.36779337G>A	ENSP00000394484:p.His272Tyr						p.H272Y	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	1304	-			272						Missense_Mutation	SNP	ENST00000416516.2	37	c.814C>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596602	0.28445	.	.	ENSG00000163673	ENST00000416516	T	0.67171	-0.25	5.48	4.61	0.57282	.	0.246309	0.21385	N	0.075411	T	0.50752	0.1634	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48647	-0.9017	10	0.62326	D	0.03	.	10.5934	0.45323	0.1492:0.0:0.8508:0.0	.	272	Q9C098	DCLK3_HUMAN	Y	272	ENSP00000394484:H272Y	ENSP00000394484:H272Y	H	-	1	0	DCLK3	36754341	0.981000	0.34729	0.008000	0.14137	0.977000	0.68977	4.279000	0.58953	1.458000	0.47871	0.655000	0.94253	CAT		0.572	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		8	81	0	0	0	1	0	8	81				
MYCBP2	23077	broad.mit.edu	37	13	77755901	77755901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77755901C>T	ENST00000544440.2	-	33	4779	c.4762G>A	c.(4762-4764)Gag>Aag	p.E1588K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1588K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E1626K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGTCGTTCTCTGTACTAACT	0.423																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4876-4878)Gag>Aag		MYC binding protein 2, E3 ubiquitin protein ligase							175.0	154.0	161.0					13																	77755901		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77755901C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4762G>A	13.37:g.77755901C>T	ENSP00000444596:p.Glu1588Lys					MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1588K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1588K	p.E1626K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	33	5142	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1588						Missense_Mutation	SNP	ENST00000544440.2	37	c.4876G>A		.	.	.	.	.	.	.	.	.	.	C	26.5	4.740817	0.89573	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27890	1.64;1.64;1.64	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.28839	-1.0031	10	0.52906	T	0.07	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1588	O75592	MYCB2_HUMAN	K	1588;1626;1588	ENSP00000349892:E1588K;ENSP00000384288:E1626K;ENSP00000444596:E1588K	ENSP00000349892:E1588K	E	-	1	0	MYCBP2	76653902	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GAG		0.423	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		46	58	0	0	0	1	0	46	58				
SLC9A3R2	9351	broad.mit.edu	37	16	2087922	2087922	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2087922A>G	ENST00000424542.2	+	7	1089	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SLC9A3R2_ENST00000563587.1_Silent_p.R211R|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000566198.1_Silent_p.R206R|SLC9A3R2_ENST00000432365.2_Silent_p.R306R	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	317					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GAGCCATGCGAGTCAACAAGC	0.637																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(949-951)cgA>cgG		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							38.0	47.0	44.0					16																	2087922		2116	4213	6329	SO:0001819	synonymous_variant	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2087922A>G	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.951A>G	16.37:g.2087922A>G						SLC9A3R2_ENST00000566198.1_Silent_p.R206R|SLC9A3R2_ENST00000563587.1_Silent_p.R211R|SLC9A3R2_ENST00000432365.2_Silent_p.R306R	p.R317R	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			7	1089	+			317					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Silent	SNP	ENST00000424542.2	37	c.951A>G	CCDS45382.1																																																																																				0.637	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			6	8	0	0	0	1	0	6	8				
KRTAP5-4	387267	broad.mit.edu	37	11	1643315	1643315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1643315G>T	ENST00000399682.1	-	1	53	c.9C>A	c.(7-9)tgC>tgA	p.C3*		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAGCCACAGCAGCCCATGG	0.667																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(7-9)tgC>tgA		keratin associated protein 5-4							11.0	12.0	12.0					11																	1643315		690	1590	2280	SO:0001587	stop_gained	387267					keratin filament		g.chr11:1643315G>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.9C>A	11.37:g.1643315G>T	ENSP00000382590:p.Cys3*						p.C3*	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	53	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	3						Nonsense_Mutation	SNP	ENST00000399682.1	37	c.9C>A		.	.	.	.	.	.	.	.	.	.	G	24.9	4.587018	0.86851	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	.	.	.	3.59	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0071	0.19553	0.3744:0.0:0.6256:0.0	.	.	.	.	X	3	.	ENSP00000331603:C3X	C	-	3	2	KRTAP5-4	1599891	1.000000	0.71417	0.961000	0.40146	0.848000	0.48234	2.392000	0.44433	0.602000	0.29896	0.591000	0.81541	TGC		0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		48	74	1	0	1.22119e-34	1	1.64234e-34	48	74				
DNAH3	55567	broad.mit.edu	37	16	20975574	20975574	+	Missense_Mutation	SNP	G	G	A	rs545853424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975574G>A	ENST00000261383.3	-	53	9631	c.9632C>T	c.(9631-9633)gCg>gTg	p.A3211V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3211	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCTCCTTCGCAGCCACGAT	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21610	0.0		0.0	False		,,,				2504	0.0					ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9631-9633)gCg>gTg		dynein, axonemal, heavy chain 3							95.0	84.0	88.0					16																	20975574		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975574G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9632C>T	16.37:g.20975574G>A	ENSP00000261383:p.Ala3211Val					DNAH3_ENST00000415178.1_3'UTR	p.A3211V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9631	-			3211			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9632C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699626	0.88830	.	.	ENSG00000158486	ENST00000261383	T	0.27256	1.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.68907	-0.5285	10	0.54805	T	0.06	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	3211	Q8TD57	DYH3_HUMAN	V	3211	ENSP00000261383:A3211V	ENSP00000261383:A3211V	A	-	2	0	DNAH3	20883075	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	GCG		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		26	75	0	0	0	1	0	26	75				
ADAMTS10	81794	broad.mit.edu	37	19	8666003	8666003	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8666003A>G	ENST00000597188.1	-	6	889	c.619T>C	c.(619-621)Tgg>Cgg	p.W207R	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.W207R|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	207						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGCAGCCACCATGGCCGCCCT	0.627																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(619-621)Tgg>Cgg		ADAM metallopeptidase with thrombospondin type 1 motif, 10							28.0	29.0	29.0					19																	8666003		2203	4299	6502	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8666003A>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.619T>C	19.37:g.8666003A>G	ENSP00000471851:p.Trp207Arg					ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.W207R	p.W207R			Q9H324	ATS10_HUMAN			5	885	-			207					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.619T>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.658449	0.29425	.	.	ENSG00000142303	ENST00000270328	T	0.58210	0.35	5.47	5.47	0.80525	.	0.150537	0.48286	D	0.000196	T	0.39253	0.1071	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24835	-1.0149	10	0.10377	T	0.69	.	14.741	0.69455	1.0:0.0:0.0:0.0	.	207	Q9H324	ATS10_HUMAN	R	207	ENSP00000270328:W207R	ENSP00000270328:W207R	W	-	1	0	ADAMTS10	8572003	1.000000	0.71417	0.982000	0.44146	0.651000	0.38670	8.498000	0.90492	2.082000	0.62665	0.454000	0.30748	TGG		0.627	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		12	29	0	0	0	1	0	12	29				
PLXNA4	91584	broad.mit.edu	37	7	131831449	131831449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131831449G>A	ENST00000359827.3	-	28	5837	c.4875C>T	c.(4873-4875)atC>atT	p.I1625I	PLXNA4_ENST00000321063.4_Silent_p.I1625I			Q9HCM2	PLXA4_HUMAN	plexin A4	1625					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGTGTACCGGATCATGTTTT	0.577																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4873-4875)atC>atT		plexin A4							104.0	115.0	111.0					7																	131831449		2170	4287	6457	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131831449G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4875C>T	7.37:g.131831449G>A						PLXNA4_ENST00000321063.4_Silent_p.I1625I	p.I1625I			Q9HCM2	PLXA4_HUMAN			28	5837	-			1625					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.4875C>T	CCDS43646.1																																																																																				0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		44	104	0	0	0	1	0	44	104				
MACROD1	28992	broad.mit.edu	37	11	63884068	63884068	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884068T>C	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.V110A	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						AACGTGCAGGTCATCTACCTA	0.572																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(328-330)gTc>gCc		fibronectin leucine rich transmembrane protein 1							74.0	64.0	67.0					11																	63884068		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884068T>C	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34642A>G	11.37:g.63884068T>C						MACROD1_ENST00000255681.6_Intron	p.V110A	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1372	+			82					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.329T>C	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206234	0.58343	.	.	ENSG00000126500	ENST00000246841	T	0.02552	4.25	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.04318	0.0119	L	0.52573	1.65	0.58432	D	0.999993	P	0.46578	0.88	B	0.42995	0.404	T	0.55134	-0.8188	10	0.09843	T	0.71	-69.5298	14.7132	0.69249	0.0:0.0:0.0:1.0	.	82	Q9NZU1	FLRT1_HUMAN	A	110	ENSP00000246841:V110A	ENSP00000246841:V110A	V	+	2	0	FLRT1	63640644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.490000	0.53245	2.117000	0.64856	0.459000	0.35465	GTC		0.572	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		14	20	0	0	0	1	0	14	20				
TCHH	7062	broad.mit.edu	37	1	152080722	152080722	+	Silent	SNP	G	G	A	rs190389251	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602													G|||	8	0.00159744	0.0	0.0	5008	,	,		20161	0.006		0.0	False		,,,				2504	0.002					ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4969-4971)cgC>cgT		trichohyalin							67.0	68.0	68.0					1																	152080722		1900	4123	6023	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080722G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4971C>T	1.37:g.152080722G>A							p.R1657R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4970	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1657			23 X 26 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.4971C>T	CCDS41396.1																																																																																				0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	92	0	0	0	1	0	8	92				
MSH6	2956	broad.mit.edu	37	2	48027090	48027090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48027090C>A	ENST00000234420.5	+	4	2120	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.P526P|MSH6_ENST00000538136.1_Silent_p.P354P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	656					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATGTTACCCCAGGTGCTTA	0.463			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1966-1968)ccC>ccA	Mismatch excision repair (MMR)	mutS homolog 6							136.0	131.0	132.0					2																	48027090		2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027090C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1968C>A	2.37:g.48027090C>A						MSH6_ENST00000540021.1_Silent_p.P526P|MSH6_ENST00000538136.1_Silent_p.P354P|FBXO11_ENST00000405808.1_Intron	p.P656P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2120	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	656					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.1968C>A	CCDS1836.1																																																																																				0.463	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		13	175	1	0	4.3838e-07	1	5.12524e-07	13	175				
FAM179B	23116	broad.mit.edu	37	14	45535897	45535897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45535897G>A	ENST00000361577.3	+	16	4731	c.4517G>A	c.(4516-4518)cGt>cAt	p.R1506H	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.R1559H	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1506										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTCGTGATCGTATTAATGGG	0.348																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(4675-4677)cGt>cAt		family with sequence similarity 179, member B							101.0	103.0	102.0					14																	45535897		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45535897G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4517G>A	14.37:g.45535897G>A	ENSP00000355045:p.Arg1506His					FAM179B_ENST00000361577.3_Missense_Mutation_p.R1506H|FAM179B_ENST00000382233.2_3'UTR	p.R1559H			Q9Y4F4	F179B_HUMAN			17	4859	+			1506					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4676G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979314	0.92982	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.76060	-0.99;-0.66	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86234	0.5884	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87415	0.2378	10	0.87932	D	0	-11.0528	17.3607	0.87349	0.0:0.0:1.0:0.0	.	1559;1506	G3XAE9;Q9Y4F4	.;F179B_HUMAN	H	1506;1559	ENSP00000355045:R1506H;ENSP00000354917:R1559H	ENSP00000354917:R1559H	R	+	2	0	FAM179B	44605647	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.954000	0.87848	2.624000	0.88883	0.561000	0.74099	CGT		0.348	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		25	48	0	0	0	1	0	25	48				
ADAM30	11085	broad.mit.edu	37	1	120437333	120437333	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120437333T>C	ENST00000369400.1	-	1	1785	c.1627A>G	c.(1627-1629)Aat>Gat	p.N543D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	543	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTTTAAAATTTCGAATTCCT	0.378																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1627-1629)Aat>Gat		ADAM metallopeptidase domain 30							58.0	62.0	60.0					1																	120437333		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437333T>C	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1627A>G	1.37:g.120437333T>C	ENSP00000358407:p.Asn543Asp						p.N543D	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1785	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	543			Cys-rich.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1627A>G	CCDS907.1	.	.	.	.	.	.	.	.	.	.	T	2.380	-0.342385	0.05243	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.21734	1.99	4.72	-9.45	0.00600	ADAM, cysteine-rich (2);	3.765040	0.01140	N	0.006191	T	0.01976	0.0062	N	0.16266	0.395	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09465	-1.0673	10	0.21014	T	0.42	.	3.2469	0.06801	0.3238:0.2313:0.354:0.0909	.	543	Q9UKF2	ADA30_HUMAN	D	543	ENSP00000358407:N543D	ENSP00000358407:N543D	N	-	1	0	ADAM30	120238856	0.000000	0.05858	0.000000	0.03702	0.469000	0.32828	-3.091000	0.00609	-4.823000	0.00030	-0.418000	0.06021	AAT		0.378	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		6	87	0	0	0	1	0	6	87				
KALRN	8997	broad.mit.edu	37	3	124103819	124103819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124103819G>A	ENST00000240874.3	+	11	2049	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	KALRN_ENST00000360013.3_Missense_Mutation_p.R631H|KALRN_ENST00000460856.1_Missense_Mutation_p.R631H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	631					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCGTGCGCAGGGTGGAG	0.572																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1891-1893)cGc>cAc		kalirin, RhoGEF kinase							98.0	82.0	88.0					3																	124103819		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103819G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1892G>A	3.37:g.124103819G>A	ENSP00000240874:p.Arg631His					KALRN_ENST00000460856.1_Missense_Mutation_p.R631H|KALRN_ENST00000240874.3_Missense_Mutation_p.R631H	p.R631H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			11	2019	+			631					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1892G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.595715|5.595715	0.96602|0.96602	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|T;T;T;T	.|0.51817	.|0.69;0.69;0.69;0.69	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62208|0.62208	0.2409|0.2409	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.997;1.0;0.996	.|D;D;D	.|0.85130	.|0.947;0.997;0.912	T|T	0.60845|0.60845	-0.7182|-0.7182	5|10	.|0.48119	.|T	.|0.1	.|.	18.9768|18.9768	0.92740|0.92740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|631;631;631	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|H	609|631;631;631;107	.|ENSP00000418611:R631H;ENSP00000240874:R631H;ENSP00000353109:R631H;ENSP00000402950:R107H	.|ENSP00000240874:R631H	A|R	+|+	1|2	0|0	KALRN|KALRN	125586509|125586509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.597000|9.597000	0.98273|0.98273	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		25	35	0	0	0	1	0	25	35				
SF3B1	23451	broad.mit.edu	37	2	198266178	198266178	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198266178A>C	ENST00000335508.6	-	17	2533	c.2442T>G	c.(2440-2442)ttT>ttG	p.F814L	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	814					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTTTAAAAAAGGGAGGAA	0.348			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2440-2442)ttT>ttG		splicing factor 3b, subunit 1, 155kDa							94.0	101.0	98.0					2																	198266178		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266178A>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2442T>G	2.37:g.198266178A>C	ENSP00000335321:p.Phe814Leu						p.F814L	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		17	2533	-			814					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2442T>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717331	0.89205	.	.	ENSG00000115524	ENST00000335508	T	0.51574	0.7	5.42	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	H	0.96460	3.825	0.80722	D	1	D	0.63046	0.992	P	0.62184	0.899	T	0.76846	-0.2808	10	0.87932	D	0	.	7.9759	0.30155	0.8026:0.0:0.1974:0.0	.	814	O75533	SF3B1_HUMAN	L	814	ENSP00000335321:F814L	ENSP00000335321:F814L	F	-	3	2	SF3B1	197974423	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.292000	0.59031	0.895000	0.36342	0.482000	0.46254	TTT		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			6	66	0	0	0	1	0	6	66				
SLC12A2	6558	broad.mit.edu	37	5	127516592	127516592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127516592C>T	ENST00000262461.2	+	23	3307	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P1024S|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1040					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTTATTGATACCTTACCTTCT	0.323																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3118-3120)Cct>Tct		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						122.0	132.0	129.0					5																	127516592		2203	4299	6502	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127516592C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3118C>T	5.37:g.127516592C>T	ENSP00000262461:p.Pro1040Ser					SLC12A2_ENST00000343225.4_Missense_Mutation_p.P1024S|SLC12A2_ENST00000507791.1_3'UTR	p.P1040S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	23	3307	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1040					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.3118C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684417	0.88639	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.97279	-4.32;-4.32	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.89478	3.035	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68353	0.957;0.907	D	0.99379	1.0922	10	0.87932	D	0	.	19.0711	0.93136	0.0:1.0:0.0:0.0	.	1024;1040	P55011-3;P55011	.;S12A2_HUMAN	S	1040;1024	ENSP00000262461:P1040S;ENSP00000340878:P1024S	ENSP00000262461:P1040S	P	+	1	0	SLC12A2	127544491	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.551000	0.82182	2.814000	0.96858	0.563000	0.77884	CCT		0.323	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		32	73	0	0	0	1	0	32	73				
ATP11B	23200	broad.mit.edu	37	3	182547540	182547540	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182547540G>T	ENST00000323116.5	+	4	575	c.315G>T	c.(313-315)caG>caT	p.Q105H	ATP11B_ENST00000493826.1_Splice_Site_p.Q105H	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	105					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCATAAAGCAGGTATGAAATA	0.299																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.e4+1		ATPase, class VI, type 11B							45.0	46.0	46.0					3																	182547540		2201	4291	6492	SO:0001630	splice_region_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182547540G>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.315+1G>T	3.37:g.182547540G>T						ATP11B_ENST00000493826.1_Splice_Site_p.Q105_splice	p.Q105_splice	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		4	575	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		105					Q96FN1|Q9UKK7	Splice_Site	SNP	ENST00000323116.5	37	c.315_splice	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326175	0.81580	.	.	ENSG00000058063	ENST00000323116;ENST00000493826	T;T	0.76578	-1.03;-1.03	5.2	5.2	0.72013	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92856	0.6301	10	0.87932	D	0	.	18.7364	0.91756	0.0:0.0:1.0:0.0	.	105;105	Q9Y2G3;B4DKX1	AT11B_HUMAN;.	H	105	ENSP00000321195:Q105H;ENSP00000419032:Q105H	ENSP00000321195:Q105H	Q	+	3	2	ATP11B	184030234	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.474000	0.97718	2.420000	0.82092	0.557000	0.71058	CAG		0.299	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	Missense_Mutation	5	10	1	0	5.9392e-07	1	6.91975e-07	5	10				
MTRR	4552	broad.mit.edu	37	5	7878150	7878150	+	Silent	SNP	C	C	T	rs139333376	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7878150C>T	ENST00000264668.2	+	5	606	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MTRR_ENST00000440940.2_Silent_p.G165G|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	192					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.G192G(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATAAGTGGCGCACTCCCGG	0.507																																						ENST00000264668.2																			1	Substitution - coding silent(1)	p.G192G(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(574-576)ggC>ggT		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	C	,	2,4404	4.2+/-10.8	0,2,2201	61.0	59.0	60.0		495,576	-7.5	0.0	5	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTRR	NM_002454.2,NM_024010.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	165/699,192/726	7878150	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7878150C>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.576C>T	5.37:g.7878150C>T						MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Silent_p.G165G	p.G192G	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			5	606	+			192					O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	c.576C>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313586	0.10789	4.54E-4	0.0	ENSG00000124275	ENST00000514220	.	.	.	5.91	-7.48	0.01360	.	.	.	.	.	T	0.19366	0.0465	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	-4.6769	5.8633	0.18760	0.2316:0.516:0.1298:0.1225	.	.	.	.	C	94	.	.	R	+	1	0	MTRR	7931150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.316000	0.01123	-0.813000	0.04357	-0.266000	0.10368	CGC		0.507	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			21	29	0	0	0	1	0	21	29				
ZNF200	7752	broad.mit.edu	37	16	3273916	3273916	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3273916G>T	ENST00000431561.3	-	5	1776	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	ZNF200_ENST00000575948.1_Silent_p.A387A|ZNF200_ENST00000414144.2_Silent_p.A388A|ZNF200_ENST00000396871.4_Silent_p.A387A|ZNF200_ENST00000396870.4_Silent_p.A387A|ZNF200_ENST00000396868.3_Silent_p.A387A|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGGTCTTACAGGCTGAGTGGG	0.483																																						ENST00000431561.3																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						c.(1162-1164)gcC>gcA		zinc finger protein 200							197.0	209.0	205.0					16																	3273916		2197	4300	6497	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3273916G>T	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1164C>A	16.37:g.3273916G>T						ZNF200_ENST00000396871.4_Silent_p.A387A|ZNF200_ENST00000414144.2_Silent_p.A388A|ZNF200_ENST00000396870.4_Silent_p.A387A|ZNF200_ENST00000396868.3_Silent_p.A387A|ZNF200_ENST00000575948.1_Silent_p.A387A|AJ003147.9_ENST00000576468.1_RNA	p.A388A	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN			5	1776	-			388					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Silent	SNP	ENST00000431561.3	37	c.1164C>A	CCDS10497.1																																																																																				0.483	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			22	259	1	0	9.86323e-18	1	1.2813e-17	22	259				
STK19	8859	broad.mit.edu	37	6	31940211	31940211	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940211T>C	ENST00000375333.2	+	2	406	c.353T>C	c.(352-354)cTg>cCg	p.L118P	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'Flank|DXO_ENST00000478221.1_5'Flank|DXO_ENST00000337523.5_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.L118P|STK19_ENST00000463823.1_3'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	118					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						AGGCATCACCTGATCCCGGAG	0.587																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(352-354)cTg>cCg		serine/threonine kinase 19							66.0	75.0	72.0					6																	31940211		1511	2709	4220	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31940211T>C	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.353T>C	6.37:g.31940211T>C	ENSP00000364482:p.Leu118Pro					STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.L118P	p.L118P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			2	519	+			118					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.353T>C	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706981	0.48412	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.42900	0.96;0.96	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000009	T	0.40498	0.1119	L	0.32530	0.975	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;0.998	D;D;D;D;D	0.81914	0.909;0.995;0.977;0.909;0.915	T	0.41106	-0.9527	10	0.62326	D	0.03	-10.994	10.3816	0.44115	0.0:0.0:0.0:1.0	.	75;118;118;118;75	C9IZ87;B4E0M4;P49842-2;P49842;B7ZLI8	.;.;.;STK19_HUMAN;.	P	118	ENSP00000364480:L118P;ENSP00000364482:L118P	ENSP00000364480:L118P	L	+	2	0	STK19	32048190	0.991000	0.36638	0.021000	0.16686	0.049000	0.14656	2.633000	0.46519	2.023000	0.59567	0.533000	0.62120	CTG		0.587	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			29	47	0	0	0	1	0	29	47				
CCDC144NL	339184	broad.mit.edu	37	17	20799212	20799212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20799212G>A	ENST00000327925.5	-	1	241	c.122C>T	c.(121-123)cCg>cTg	p.P41L	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RNU6-1178P_ENST00000516674.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	41										large_intestine(3)|lung(3)|skin(1)	7						CTGGTCCCCCGGGTAGTCCAA	0.647																																						ENST00000327925.5																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(121-123)cCg>cTg		coiled-coil domain containing 144 family, N-terminal like							63.0	63.0	63.0					17																	20799212		2203	4300	6503	SO:0001583	missense	339184							g.chr17:20799212G>A		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.122C>T	17.37:g.20799212G>A	ENSP00000328054:p.Pro41Leu					RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA	p.P41L	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN			1	241	-			41						Missense_Mutation	SNP	ENST00000327925.5	37	c.122C>T	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	g	7.859	0.725723	0.15439	.	.	ENSG00000205212	ENST00000327925	T	0.21031	2.03	0.624	0.624	0.17659	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.40098	-0.9581	9	0.02654	T	1	.	4.984	0.14180	0.0:0.0:1.0:0.0	.	41	Q6NUI1	C144L_HUMAN	L	41	ENSP00000328054:P41L	ENSP00000328054:P41L	P	-	2	0	CCDC144NL	20739804	0.006000	0.16342	0.007000	0.13788	0.000000	0.00434	-1.161000	0.03144	0.759000	0.33084	0.000000	0.15137	CCG		0.647	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		26	23	0	0	0	1	0	26	23				
RAB5C	5878	broad.mit.edu	37	17	40280316	40280316	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40280316T>G	ENST00000346213.4	-	4	616	c.404A>C	c.(403-405)aAg>aCg	p.K135T	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K135T|RAB5C_ENST00000547517.1_Missense_Mutation_p.K168T|RAB5C_ENST00000393860.3_Missense_Mutation_p.K135T	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	135					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CAGGTCTGCCTTGTTACCCGC	0.607																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(403-405)aAg>aCg		RAB5C, member RAS oncogene family							139.0	114.0	122.0					17																	40280316		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280316T>G	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.404A>C	17.37:g.40280316T>G	ENSP00000345689:p.Lys135Thr					RAB5C_ENST00000346213.4_Missense_Mutation_p.K135T|RAB5C_ENST00000547517.1_Missense_Mutation_p.K168T|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K135T	p.K135T	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	5	720	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	135					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.404A>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	T	33	5.243933	0.95272	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517	D;D;D	0.94650	-3.48;-3.48;-3.48	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.85130	0.854;0.997	D	0.99667	1.0995	10	0.87932	D	0	-25.3314	15.4186	0.74991	0.0:0.0:0.0:1.0	.	168;135	F8W1H5;P51148	.;RAB5C_HUMAN	T	135;135;168	ENSP00000345689:K135T;ENSP00000377440:K135T;ENSP00000447053:K168T	ENSP00000345689:K135T	K	-	2	0	RAB5C	37533842	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.838000	0.86804	2.235000	0.73313	0.533000	0.62120	AAG		0.607	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		21	44	0	0	0	1	0	21	44				
POLE	5426	broad.mit.edu	37	12	133249410	133249410	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133249410A>G	ENST00000320574.5	-	15	1532	c.1489T>C	c.(1489-1491)Tct>Cct	p.S497P	POLE_ENST00000535270.1_Missense_Mutation_p.S470P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	497					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGAGTGCCAGAGCCCTTCCGC	0.542								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1489-1491)Tct>Cct	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							83.0	76.0	78.0					12																	133249410		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133249410A>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1489T>C	12.37:g.133249410A>G	ENSP00000322570:p.Ser497Pro					POLE_ENST00000535270.1_Missense_Mutation_p.S470P	p.S497P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	15	1532	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	497					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1489T>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062670	0.76187	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.46819	3.91;3.91;3.92;0.86	5.38	5.38	0.77491	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84472	0.0600	10	0.87932	D	0	.	15.3899	0.74735	1.0:0.0:0.0:0.0	.	470;497	F5H1D6;Q07864	.;DPOE1_HUMAN	P	497;508;470;277;432;115	ENSP00000322570:S497P;ENSP00000406383:S508P;ENSP00000445753:S470P;ENSP00000442519:S277P	ENSP00000322570:S497P	S	-	1	0	POLE	131759483	1.000000	0.71417	0.978000	0.43139	0.496000	0.33645	9.281000	0.95811	2.040000	0.60383	0.260000	0.18958	TCT		0.542	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		6	15	0	0	0	1	0	6	15				
BNC1	646	broad.mit.edu	37	15	83931981	83931981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83931981C>T	ENST00000345382.2	-	4	2107	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	BNC1_ENST00000569704.1_Silent_p.L667L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	674					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCGCTGCTGCAGTTCCATGT	0.522																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2020-2022)ctG>ctA		basonuclin 1							69.0	73.0	71.0					15																	83931981		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83931981C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2022G>A	15.37:g.83931981C>T						BNC1_ENST00000569704.1_Silent_p.L667L|RP11-382A20.4_ENST00000565495.1_RNA	p.L674L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			4	2107	-			674					Q15840	Silent	SNP	ENST00000345382.2	37	c.2022G>A	CCDS10324.1																																																																																				0.522	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		10	48	0	0	0	1	0	10	48				
NLGN2	57555	broad.mit.edu	37	17	7319374	7319374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319374G>A	ENST00000302926.2	+	6	1655	c.1582G>A	c.(1582-1584)Gtc>Atc	p.V528I	NLGN2_ENST00000575301.1_Missense_Mutation_p.V528I	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	528					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGAATGACGTCATGCTCAG	0.637																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(1582-1584)Gtc>Atc		neuroligin 2							67.0	57.0	60.0					17																	7319374		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7319374G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1582G>A	17.37:g.7319374G>A	ENSP00000305288:p.Val528Ile					NLGN2_ENST00000575301.1_Missense_Mutation_p.V528I	p.V528I	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			6	1655	+		Prostate(122;0.157)	528					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1582G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240514	0.39598	.	.	ENSG00000169992	ENST00000302926	T	0.67523	-0.27	5.44	5.44	0.79542	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	N	0.13352	0.335	0.50467	D	0.999872	B	0.16396	0.017	B	0.09377	0.004	T	0.41270	-0.9518	10	0.29301	T	0.29	.	16.8112	0.85720	0.0:0.0:1.0:0.0	.	528	Q8NFZ4	NLGN2_HUMAN	I	528	ENSP00000305288:V528I	ENSP00000305288:V528I	V	+	1	0	NLGN2	7260098	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.542000	0.73869	2.837000	0.97791	0.655000	0.94253	GTC		0.637	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		15	22	0	0	0	1	0	15	22				
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	G	A	rs375235408		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50405102G>A	ENST00000479441.1	-	27	2288	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000395083.1_Silent_p.D756D|CACNA2D2_ENST00000429770.1_Silent_p.D756D|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000435965.1_Silent_p.D763D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000424201.2_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000360963.3_Silent_p.D687D|CACNA2D2_ENST00000423994.2_Silent_p.D763D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGATGCCACCGTCTGTGGCAG	0.642																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2287-2289)gaC>gaT		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)	G	,,	1,4405	2.1+/-5.4	0,1,2202	79.0	77.0	78.0		2268,2289,2268	-10.8	0.1	3		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA2D2	NM_001005505.1,NM_001174051.1,NM_006030.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	756/1146,763/1151,756/1144	50405102	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50405102G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2289C>T	3.37:g.50405102G>A						XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000479441.1_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000360963.3_Silent_p.D687D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607088.1_RNA	p.D763D			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	27	2462	-			763					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.2289C>T	CCDS54588.1																																																																																				0.642	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		9	22	0	0	0	1	0	9	22				
AGXT	189	broad.mit.edu	37	2	241815387	241815387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241815387G>A	ENST00000307503.3	+	8	1199	c.812G>A	c.(811-813)aGc>aAc	p.S271N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	271					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	AGCCTGTACAGCCTGAGAGAG	0.632																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(811-813)aGc>aAc		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						155.0	109.0	125.0					2																	241815387		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241815387G>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.812G>A	2.37:g.241815387G>A	ENSP00000302620:p.Ser271Asn						p.S271N	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	8	1199	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	271					Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.812G>A	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.128607	0.56721	.	.	ENSG00000172482	ENST00000307503	D	0.87256	-2.23	4.91	1.84	0.25277	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.674932	0.16112	N	0.229063	D	0.89210	0.6650	M	0.71036	2.16	0.23962	N	0.996333	P	0.35383	0.498	P	0.45610	0.487	T	0.82438	-0.0457	10	0.87932	D	0	-15.0587	13.0618	0.59012	0.0:0.4764:0.5236:0.0	.	271	P21549	SPYA_HUMAN	N	271	ENSP00000302620:S271N	ENSP00000302620:S271N	S	+	2	0	AGXT	241464060	0.754000	0.28360	0.194000	0.23346	0.765000	0.43378	1.541000	0.36126	0.062000	0.16340	0.651000	0.88453	AGC		0.632	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		4	15	0	0	0	1	0	4	15				
CEP192	55125	broad.mit.edu	37	18	13052933	13052933	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13052933C>A	ENST00000325971.8	+	16	2838	c.1245C>A	c.(1243-1245)tcC>tcA	p.S415S	CEP192_ENST00000506447.1_Silent_p.S1011S|CEP192_ENST00000430049.2_Silent_p.S536S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	415					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGTTAGAGTCCTTTGGTTCAG	0.527																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3031-3033)tcC>tcA		centrosomal protein 192kDa							186.0	180.0	182.0					18																	13052933		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13052933C>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1245C>A	18.37:g.13052933C>A						CEP192_ENST00000325971.8_Silent_p.S415S|CEP192_ENST00000430049.2_Silent_p.S536S	p.S1011S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			18	3113	+			606					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.3033C>A																																																																																					0.527	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		19	162	1	0	2.70639e-06	1	3.11222e-06	19	162				
PCDHA1	56147	broad.mit.edu	37	5	140167108	140167108	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167108C>T	ENST00000504120.2	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA1_ENST00000378133.3_Silent_p.S411S|PCDHA1_ENST00000394633.3_Silent_p.S411S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGGACAGCGCCCTGGATC	0.632																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1231-1233)agC>agT									136.0	128.0	130.0					5																	140167108		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140167108C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1233C>T	5.37:g.140167108C>T						PCDHA1_ENST00000394633.3_Silent_p.S411S|PCDHA1_ENST00000378133.3_Silent_p.S411S	p.S411S	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1233	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1233C>T	CCDS54913.1																																																																																				0.632	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		23	105	0	0	0	1	0	23	105				
PRRC2A	7916	broad.mit.edu	37	6	31594839	31594839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31594839C>T	ENST00000376033.2	+	11	1388	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P385L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	385	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACAGCGAACCGCCCACTCCT	0.627																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1153-1155)cCg>cTg		proline-rich coiled-coil 2A							57.0	58.0	58.0					6																	31594839		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31594839C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1154C>T	6.37:g.31594839C>T	ENSP00000365201:p.Pro385Leu					PRRC2A_ENST00000376007.4_Missense_Mutation_p.P385L	p.P385L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			11	1388	+			385			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1154C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	0.258	-1.001773	0.02128	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01629	4.72;4.72	4.6	-2.69	0.06022	.	0.775859	0.11304	N	0.577870	T	0.00468	0.0015	N	0.22421	0.69	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.42155	-0.9468	10	0.87932	D	0	2.0229	7.4207	0.27071	0.1072:0.4059:0.0:0.4869	.	385	P48634	PRC2A_HUMAN	L	385	ENSP00000365175:P385L;ENSP00000365201:P385L	ENSP00000365175:P385L	P	+	2	0	PRRC2A	31702818	0.000000	0.05858	0.460000	0.27093	0.004000	0.04260	-1.194000	0.03046	-1.113000	0.02981	-1.945000	0.00491	CCG		0.627	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		28	28	0	0	0	1	0	28	28				
PIK3R4	30849	broad.mit.edu	37	3	130452730	130452730	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130452730T>C	ENST00000356763.3	-	4	1669	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	371					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCATTTTCCTTAGGCTCTCC	0.423																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(1111-1113)aAg>aGg		phosphoinositide-3-kinase, regulatory subunit 4							141.0	142.0	141.0					3																	130452730		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452730T>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1112A>G	3.37:g.130452730T>C	ENSP00000349205:p.Lys371Arg						p.K371R	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			4	1669	-			371					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1112A>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.987172	0.35036	.	.	ENSG00000196455	ENST00000356763	T	0.30714	1.52	6.17	2.42	0.29668	Armadillo-like helical (1);Armadillo-type fold (1);	0.208201	0.50627	N	0.000109	T	0.19446	0.0467	L	0.29908	0.895	0.34990	D	0.754891	B	0.14438	0.01	B	0.08055	0.003	T	0.19063	-1.0317	10	0.21540	T	0.41	-15.2776	9.4718	0.38847	0.0:0.2095:0.0:0.7905	.	371	Q99570	PI3R4_HUMAN	R	371	ENSP00000349205:K371R	ENSP00000349205:K371R	K	-	2	0	PIK3R4	131935420	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	3.102000	0.50291	0.178000	0.19917	0.533000	0.62120	AAG		0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		10	131	0	0	0	1	0	10	131				
GPC5	2262	broad.mit.edu	37	13	92345665	92345665	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92345665A>G	ENST00000377067.3	+	3	922	c.550A>G	c.(550-552)Act>Gct	p.T184A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	184					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCCTGGTGTGACTGACAGTTC	0.443																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(550-552)Act>Gct		glypican 5							116.0	116.0	116.0					13																	92345665		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345665A>G	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.550A>G	13.37:g.92345665A>G	ENSP00000366267:p.Thr184Ala						p.T184A	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	922	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	184					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.550A>G	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	4.658	0.122335	0.08931	.	.	ENSG00000179399	ENST00000377067	T	0.48201	0.82	5.07	5.07	0.68467	.	0.238263	0.43416	D	0.000569	T	0.39436	0.1078	M	0.72894	2.215	0.26094	N	0.980919	B	0.16166	0.016	B	0.21360	0.034	T	0.43065	-0.9414	10	0.05833	T	0.94	.	6.4012	0.21640	0.7578:0.1588:0.0834:0.0	.	184	P78333	GPC5_HUMAN	A	184	ENSP00000366267:T184A	ENSP00000366267:T184A	T	+	1	0	GPC5	91143666	0.864000	0.29904	1.000000	0.80357	0.871000	0.50021	1.020000	0.30027	1.904000	0.55121	0.383000	0.25322	ACT		0.443	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		34	65	0	0	0	1	0	34	65				
CCDC101	112869	broad.mit.edu	37	16	28596240	28596240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28596240C>T	ENST00000317058.3	+	3	269	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	28					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACAGGAAGAGCGTTCGCGGAG	0.557																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(82-84)Cgt>Tgt		coiled-coil domain containing 101							56.0	54.0	55.0					16																	28596240		2197	4300	6497	SO:0001583	missense	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28596240C>T	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.82C>T	16.37:g.28596240C>T	ENSP00000316114:p.Arg28Cys						p.R28C	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			3	269	+			28					Q96MF5	Missense_Mutation	SNP	ENST00000317058.3	37	c.82C>T	CCDS10635.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356360	0.82243	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81680	-0.0823	9	0.72032	D	0.01	.	16.1011	0.81172	0.0:1.0:0.0:0.0	.	28	Q96ES7	SGF29_HUMAN	C	28	.	ENSP00000316114:R28C	R	+	1	0	CCDC101	28503741	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.725000	0.47294	2.674000	0.91012	0.467000	0.42956	CGT		0.557	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		15	32	0	0	0	1	0	15	32				
COL1A1	1277	broad.mit.edu	37	17	48272410	48272410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48272410G>A	ENST00000225964.5	-	20	1469	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	451	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	AGACTTACAGGCTCTCCCTTA	0.612			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1351-1353)Cct>Tct		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						64.0	66.0	65.0					17																	48272410		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48272410G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1351C>T	17.37:g.48272410G>A	ENSP00000225964:p.Pro451Ser						p.P451S	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			20	1469	-			451			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.1351C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	9.485	1.099091	0.20552	.	.	ENSG00000108821	ENST00000225964	D	0.96587	-4.06	5.78	5.78	0.91487	.	0.144262	0.46758	D	0.000261	D	0.94387	0.8195	M	0.64676	1.99	0.42521	D	0.993007	B	0.11235	0.004	B	0.17098	0.017	D	0.90382	0.4389	10	0.39692	T	0.17	.	10.8622	0.46833	0.0855:0.0:0.9145:0.0	.	451	P02452	CO1A1_HUMAN	S	451	ENSP00000225964:P451S	ENSP00000225964:P451S	P	-	1	0	COL1A1	45627409	1.000000	0.71417	0.998000	0.56505	0.022000	0.10575	3.396000	0.52565	2.733000	0.93635	0.563000	0.77884	CCT		0.612	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			22	49	0	0	0	1	0	22	49				
PRRC2C	23215	broad.mit.edu	37	1	171553144	171553144	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171553144C>A	ENST00000338920.4	+	29	7690	c.7453C>A	c.(7453-7455)Ctt>Att	p.L2485I	PRRC2C_ENST00000367742.3_Missense_Mutation_p.L2487I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.L2420I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.L2487I	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2485	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATCTGTGGTCCTTTCTGGTAC	0.408																																						ENST00000367742.3																			0											c.(7459-7461)Ctt>Att		proline-rich coiled-coil 2C							124.0	117.0	119.0					1																	171553144		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171553144C>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7453C>A	1.37:g.171553144C>A	ENSP00000343629:p.Leu2485Ile					PRRC2C_ENST00000392078.3_Missense_Mutation_p.L2487I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.L2420I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.L2485I	p.L2487I			Q9Y520	PRC2C_HUMAN			29	7701	+			2485			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7459C>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063959	0.76187	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03801	3.8;3.81;3.8;3.8	5.98	5.98	0.97165	.	0.000000	0.41712	D	0.000825	T	0.11324	0.0276	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.83275	0.967;0.996	T	0.20706	-1.0267	10	0.08179	T	0.78	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2420;2485	B7WNZ6;Q9Y520-4	.;.	I	2487;2439;2420;2487;2485;2242	ENSP00000375928:L2487I;ENSP00000410219:L2420I;ENSP00000356716:L2487I;ENSP00000343629:L2485I	ENSP00000343629:L2485I	L	+	1	0	PRRC2C	169819768	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.596000	0.61055	2.835000	0.97688	0.650000	0.86243	CTT		0.408	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		9	102	1	0	0.000442599	1	0.00048047	9	102				
ABCC8	6833	broad.mit.edu	37	11	17452370	17452370	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17452370G>T	ENST00000389817.3	-	12	1876	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	ABCC8_ENST00000302539.4_Missense_Mutation_p.A603D|ABCC8_ENST00000528202.1_5'UTR			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	603					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCTCACTAGAGCTTTGACGGT	0.602																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1807-1809)gCt>gAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						204.0	181.0	189.0					11																	17452370		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17452370G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1808C>A	11.37:g.17452370G>T	ENSP00000374467:p.Ala603Asp					ABCC8_ENST00000389817.3_Missense_Mutation_p.A603D|ABCC8_ENST00000528202.1_5'UTR	p.A603D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	12	1933	-			603					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1808C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361531	0.95877	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.95821	-3.82;-3.82	5.44	5.44	0.79542	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98375	0.9460	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	D	0.99490	1.0950	10	0.87932	D	0	.	18.0371	0.89307	0.0:0.0:1.0:0.0	.	602;603	B7Z4N0;Q09428	.;ABCC8_HUMAN	D	603;603;617	ENSP00000374467:A603D;ENSP00000303960:A603D	ENSP00000303960:A603D	A	-	2	0	ABCC8	17408946	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.405000	0.97313	2.543000	0.85770	0.643000	0.83706	GCT		0.602	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		60	132	1	0	2.66076e-39	1	3.58773e-39	60	132				
MED12L	116931	broad.mit.edu	37	3	151129147	151129147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151129147C>A	ENST00000474524.1	+	39	5925	c.5887C>A	c.(5887-5889)Ctg>Atg	p.L1963M	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1963	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTGTGGTCCTGTCTCCCAG	0.557																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5887-5889)Ctg>Atg		mediator complex subunit 12-like							99.0	88.0	92.0					3																	151129147		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129147C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5887C>A	3.37:g.151129147C>A	ENSP00000417235:p.Leu1963Met					MED12L_ENST00000273432.4_Intron	p.L1963M	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	5925	+			1963			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5887C>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	6.867	0.529376	0.13127	.	.	ENSG00000144893	ENST00000474524	T	0.57436	0.4	5.75	1.99	0.26369	Mediator complex, subunit Med12, catenin-binding (1);	0.232460	0.36854	N	0.002380	T	0.62183	0.2407	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.65874	0.939	T	0.56226	-0.8014	10	0.42905	T	0.14	-11.2387	9.3186	0.37950	0.0:0.7017:0.1084:0.1898	.	1963	Q86YW9	MD12L_HUMAN	M	1963	ENSP00000417235:L1963M	ENSP00000417235:L1963M	L	+	1	2	MED12L	152611837	1.000000	0.71417	0.988000	0.46212	0.561000	0.35649	1.652000	0.37313	-0.101000	0.12219	-3.634000	0.00027	CTG		0.557	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		5	58	1	0	8.12818e-05	1	8.99451e-05	5	58				
CELA2B	51032	broad.mit.edu	37	1	15802639	15802639	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802639C>T	ENST00000375910.3	+	1	44	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	7						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GACCCTGCTGCTGTCCACTTT	0.547																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(19-21)Ctg>Ttg		chymotrypsin-like elastase family, member 2B							122.0	103.0	110.0					1																	15802639		2203	4300	6503	SO:0001819	synonymous_variant	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15802639C>T		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.19C>T	1.37:g.15802639C>T						CELA2B_ENST00000494280.1_Intron	p.L7L	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			1	44	+			7					Q14D16|Q6ISM5|Q96QV5	Silent	SNP	ENST00000375910.3	37	c.19C>T	CCDS30605.1																																																																																				0.547	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		20	30	0	0	0	1	0	20	30				
AP2A1	160	broad.mit.edu	37	19	50285229	50285229	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50285229T>C	ENST00000359032.5	+	3	162	c.162T>C	c.(160-162)agT>agC	p.S54S	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000354293.5_Silent_p.S54S	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGCTACAGTAAGAAAAAAT	0.473																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(160-162)agT>agC		adaptor-related protein complex 2, alpha 1 subunit							68.0	63.0	64.0					19																	50285229		1934	4154	6088	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50285229T>C	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.162T>C	19.37:g.50285229T>C						AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000359032.5_Silent_p.S54S	p.S54S	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	3	328	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	54					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.162T>C	CCDS46148.1																																																																																				0.473	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			6	5	0	0	0	1	0	6	5				
USP9X	8239	broad.mit.edu	37	X	41029755	41029755	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41029755C>A	ENST00000324545.8	+	20	3543	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S	USP9X_ENST00000378308.2_Silent_p.S970S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	970					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGATAAGTTCCAATATGCCTT	0.358																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2908-2910)tcC>tcA		ubiquitin specific peptidase 9, X-linked							82.0	77.0	79.0					X																	41029755		2133	4270	6403	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41029755C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2910C>A	X.37:g.41029755C>A						USP9X_ENST00000378308.2_Silent_p.S970S	p.S970S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			20	3543	+			970					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.2910C>A	CCDS43930.1																																																																																				0.358	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		7	69	1	0	2.17888e-05	1	2.45068e-05	7	69				
ALG13	79868	broad.mit.edu	37	X	110928326	110928326	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110928326C>A	ENST00000394780.3	+	3	390	c.378C>A	c.(376-378)acC>acA	p.T126T	ALG13_ENST00000371979.3_Silent_p.T126T|ALG13_ENST00000251943.4_Silent_p.T22T	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	126	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TCTATTGTACCTGCAGGTATG	0.433																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(376-378)acC>acA		ALG13, UDP-N-acetylglucosaminyltransferase subunit							206.0	196.0	200.0					X																	110928326		2203	4300	6503	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110928326C>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.378C>A	X.37:g.110928326C>A						ALG13_ENST00000371979.3_Silent_p.T126T|ALG13_ENST00000251943.4_Silent_p.T22T	p.T126T	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			3	390	+			126					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.378C>A	CCDS55477.1																																																																																				0.433	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		121	168	1	0	9.50458e-46	1	1.28382e-45	121	168				
ZCCHC12	170261	broad.mit.edu	37	X	117959637	117959637	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117959637A>G	ENST00000310164.2	+	4	937	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	144					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tcaaggggagaaagcctccct	0.483																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(430-432)Aaa>Gaa		zinc finger, CCHC domain containing 12							129.0	130.0	130.0					X																	117959637		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959637A>G	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.430A>G	X.37:g.117959637A>G	ENSP00000308921:p.Lys144Glu						p.K144E	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	937	+			144					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.430A>G	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939390	0.52972	.	.	ENSG00000174460	ENST00000310164	T	0.10573	2.86	3.09	3.09	0.35607	.	0.000000	0.38778	N	0.001571	T	0.29190	0.0726	M	0.79693	2.465	0.28830	N	0.897206	D	0.67145	0.996	D	0.77557	0.99	T	0.04268	-1.0964	10	0.72032	D	0.01	-21.326	6.9722	0.24654	1.0:0.0:0.0:0.0	.	144	Q6PEW1	ZCH12_HUMAN	E	144	ENSP00000308921:K144E	ENSP00000308921:K144E	K	+	1	0	ZCCHC12	117843665	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.563000	0.53784	1.451000	0.47736	0.481000	0.45027	AAA		0.483	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		5	168	0	0	0	1	0	5	168				
NCOR1	9611	broad.mit.edu	37	17	15935767	15935767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15935767G>A	ENST00000268712.3	-	46	7423	c.7166C>T	c.(7165-7167)aCt>aTt	p.T2389I	NCOR1_ENST00000395857.3_Missense_Mutation_p.T973I|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2286I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2389	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATCCGCATAGTCAGAGGGTT	0.453																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(7165-7167)aCt>aTt		nuclear receptor corepressor 1							111.0	101.0	105.0					17																	15935767		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15935767G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7166C>T	17.37:g.15935767G>A	ENSP00000268712:p.Thr2389Ile					NCOR1_ENST00000395851.1_Missense_Mutation_p.T2286I|NCOR1_ENST00000395857.3_Missense_Mutation_p.T973I	p.T2389I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	46	7423	-			2389			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.7166C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359544	0.41801	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.42900	0.96;1.52;0.96	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.979;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.996;0.702;0.997;0.999;0.998	T	0.50775	-0.8788	10	0.12430	T	0.62	-13.381	19.4101	0.94667	0.0:0.0:1.0:0.0	.	2292;2389;2286;908;402	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	I	2389;2286;2292;973	ENSP00000268712:T2389I;ENSP00000379192:T2286I;ENSP00000379198:T973I	ENSP00000268712:T2389I	T	-	2	0	NCOR1	15876492	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.999000	0.88496	2.832000	0.97577	0.655000	0.94253	ACT		0.453	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		24	46	0	0	0	1	0	24	46				
FKBP15	23307	broad.mit.edu	37	9	115959295	115959295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115959295C>A	ENST00000238256.3	-	9	898	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	261	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACAGCACAGGCTGGAGGGACA	0.498																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(781-783)Gcc>Tcc		FK506 binding protein 15, 133kDa							121.0	120.0	121.0					9																	115959295		1956	4157	6113	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115959295C>A	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.781G>T	9.37:g.115959295C>A	ENSP00000238256:p.Ala261Ser						p.A261S	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			9	898	-			261			PPIase FKBP-type.		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.781G>T	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	8.835	0.940816	0.18281	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.41758	0.99;0.99;0.99	5.48	1.41	0.22369	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	.	.	.	.	T	0.22936	0.0554	N	0.16037	0.36	0.21697	N	0.999586	B;B;B	0.19331	0.035;0.002;0.02	B;B;B	0.19666	0.015;0.006;0.026	T	0.20538	-1.0272	9	0.34782	T	0.22	-0.1573	5.2627	0.15582	0.3029:0.5382:0.0:0.1588	.	261;261;261	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	S	286;261;286	ENSP00000416158:A286S;ENSP00000238256:A261S;ENSP00000415733:A286S	ENSP00000238256:A261S	A	-	1	0	FKBP15	114999116	0.359000	0.24955	0.987000	0.45799	0.939000	0.58152	0.081000	0.14823	-0.008000	0.14320	0.655000	0.94253	GCC		0.498	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		37	42	1	0	2.91434e-09	1	3.52943e-09	37	42				
SLC12A4	6560	broad.mit.edu	37	16	67991894	67991894	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67991894G>T	ENST00000316341.3	-	4	536	c.396C>A	c.(394-396)atC>atA	p.I132I	SLC12A4_ENST00000572037.1_Silent_p.I84I|SLC12A4_ENST00000422611.2_Silent_p.I134I|SLC12A4_ENST00000537830.2_Silent_p.I126I|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Silent_p.I101I|SLC12A4_ENST00000338335.3_Silent_p.I132I|SLC12A4_ENST00000576616.1_Silent_p.I132I	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	132					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAACCCCAAAGATATTCTGCA	0.587																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(400-402)atC>atA		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						93.0	77.0	83.0					16																	67991894		2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67991894G>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.396C>A	16.37:g.67991894G>T						SLC12A4_ENST00000338335.3_Silent_p.I132I|SLC12A4_ENST00000572037.1_Silent_p.I84I|SLC12A4_ENST00000537830.2_Silent_p.I126I|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000316341.3_Silent_p.I132I|SLC12A4_ENST00000541864.2_Silent_p.I101I|SLC12A4_ENST00000576616.1_Silent_p.I132I	p.I134I	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	3	441	-		Ovarian(137;0.192)	132					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.402C>A	CCDS10855.1																																																																																				0.587	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		19	36	1	0	1.42536e-11	1	1.77909e-11	19	36				
REG4	83998	broad.mit.edu	37	1	120337242	120337242	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120337242T>C	ENST00000354219.1	-	7	915	c.476A>G	c.(475-477)tAg>tGg	p.*159W	REG4_ENST00000256585.5_Nonstop_Mutation_p.*159W|REG4_ENST00000530654.1_3'UTR	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ATTCTTGCTCTATGGTCGGTA	0.438																																						ENST00000354219.1																			0				central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.(475-477)tAg>tGg		regenerating islet-derived family, member 4							259.0	254.0	256.0					1																	120337242		2203	4300	6503	SO:0001578	stop_lost	83998					extracellular region	sugar binding	g.chr1:120337242T>C	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.476A>G	1.37:g.120337242T>C	ENSP00000346158:p.*159Serext*47					REG4_ENST00000256585.5_Nonstop_Mutation_p.*159W|REG4_ENST00000530654.1_3'UTR	p.*159W	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	7	915	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	0					Q8NER6|Q8NER7	Nonstop_Mutation	SNP	ENST00000354219.1	37	c.476A>G	CCDS906.1	.	.	.	.	.	.	.	.	.	.	T	7.350	0.622672	0.14193	.	.	ENSG00000134193	ENST00000354219;ENST00000256585	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6329	0.45547	0.0:0.0:0.0:1.0	.	.	.	.	W	159	.	.	X	-	2	0	REG4	120138765	0.944000	0.32072	0.717000	0.30585	0.015000	0.08874	3.145000	0.50623	2.018000	0.59344	0.524000	0.50904	TAG		0.438	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		134	153	0	0	0	1	0	134	153				
POU2F1	5451	broad.mit.edu	37	1	167365661	167365661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167365661G>A	ENST00000541643.3	+	11	1219	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.A313T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A353T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A376T|POU2F1_ENST00000367862.5_Missense_Mutation_p.A365T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	353	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCTAAATGATGCAGGTAAGTG	0.353																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1093-1095)Gca>Aca		POU class 2 homeobox 1							128.0	124.0	126.0					1																	167365661		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167365661G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1057G>A	1.37:g.167365661G>A	ENSP00000441285:p.Ala353Thr					POU2F1_ENST00000429375.2_Missense_Mutation_p.A313T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A353T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A376T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.A353T	p.A365T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			10	1328	+			353					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1093G>A		.	.	.	.	.	.	.	.	.	.	G	21.6	4.178329	0.78564	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;D;T;T;T;T;T	0.84660	-0.87;-1.88;-0.87;-0.87;-0.87;-0.87;-0.87	6.17	5.26	0.73747	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	L	0.58302	1.8	0.80722	D	1	B;P;B;B;B	0.38455	0.011;0.632;0.018;0.008;0.022	B;P;B;B;B	0.54629	0.018;0.757;0.004;0.006;0.007	D	0.88134	0.2840	10	0.59425	D	0.04	.	14.5507	0.68065	0.0695:0.0:0.9305:0.0	.	313;353;365;351;353	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	T	376;313;351;353;353;365;261	ENSP00000356840:A376T;ENSP00000401217:A313T;ENSP00000356839:A351T;ENSP00000414660:A353T;ENSP00000441285:A353T;ENSP00000356836:A365T;ENSP00000415993:A261T	ENSP00000356836:A365T	A	+	1	0	POU2F1	165632285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.059000	0.89462	1.616000	0.50265	0.655000	0.94253	GCA		0.353	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		5	86	0	0	0	1	0	5	86				
GHRHR	2692	broad.mit.edu	37	7	31011684	31011684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31011684G>A	ENST00000326139.2	+	6	617	c.571G>A	c.(571-573)Gac>Aac	p.D191N	GHRHR_ENST00000409904.3_Missense_Mutation_p.D127N|GHRHR_ENST00000409316.1_Silent_p.T8T|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	191					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCACAGCGACGACACTGACCA	0.587																																						ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(379-381)Gac>Aac		growth hormone releasing hormone receptor	Sermorelin(DB00010)						99.0	72.0	81.0					7																	31011684		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31011684G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.571G>A	7.37:g.31011684G>A	ENSP00000320180:p.Asp191Asn					GHRHR_ENST00000409316.1_Silent_p.T8T|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.D191N	p.D127N			Q02643	GHRHR_HUMAN			3	637	+			191					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.379G>A	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632388	0.29068	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.37235	1.21;1.21	4.42	-7.8	0.01214	GPCR, family 2-like (1);	.	.	.	.	T	0.23492	0.0568	L	0.37466	1.105	0.09310	N	1	B;B;B	0.18968	0.032;0.014;0.021	B;B;B	0.18263	0.016;0.01;0.021	T	0.23226	-1.0194	9	0.34782	T	0.22	.	10.3879	0.44152	0.2021:0.1311:0.6668:0.0	.	127;191;127	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	N	191;127	ENSP00000320180:D191N;ENSP00000387113:D127N	ENSP00000320180:D191N	D	+	1	0	GHRHR	30978209	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.014000	0.13333	-1.570000	0.01665	-0.291000	0.09656	GAC		0.587	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			27	30	0	0	0	1	0	27	30				
ASXL2	55252	broad.mit.edu	37	2	25967097	25967097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25967097C>A	ENST00000435504.4	-	13	2402	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ASXL2_ENST00000404843.1_Missense_Mutation_p.E443D|ASXL2_ENST00000272341.4_Missense_Mutation_p.E443D|ASXL2_ENST00000336112.4_Missense_Mutation_p.E675D			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	703	Gly-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCACCACCCTCTCCTGGAC	0.637																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2107-2109)gaG>gaT		additional sex combs like 2 (Drosophila)							95.0	94.0	95.0					2																	25967097		1963	4159	6122	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25967097C>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2109G>T	2.37:g.25967097C>A	ENSP00000391447:p.Glu703Asp					ASXL2_ENST00000404843.1_Missense_Mutation_p.E443D|ASXL2_ENST00000272341.4_Missense_Mutation_p.E443D|ASXL2_ENST00000336112.4_Missense_Mutation_p.E675D	p.E703D			Q76L83	ASXL2_HUMAN			13	2402	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		703			Gly-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2109G>T		.	.	.	.	.	.	.	.	.	.	C	9.197	1.027567	0.19512	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.20200	2.09;2.09;2.11;2.11	5.94	0.167	0.15006	.	0.339052	0.27397	N	0.019549	T	0.13200	0.0320	L	0.44542	1.39	0.25751	N	0.985058	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.003	T	0.31081	-0.9956	10	0.15066	T	0.55	-12.0815	5.9631	0.19310	0.1248:0.4775:0.0:0.3977	.	443;703	Q76L83-2;Q76L83	.;ASXL2_HUMAN	D	703;675;443;443	ENSP00000391447:E703D;ENSP00000337250:E675D;ENSP00000383920:E443D;ENSP00000272341:E443D	ENSP00000272341:E443D	E	-	3	2	ASXL2	25820601	0.089000	0.21612	0.998000	0.56505	0.926000	0.56050	-0.670000	0.05256	0.073000	0.16731	-0.244000	0.11960	GAG		0.637	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		26	98	1	0	1.77063e-15	1	2.27219e-15	26	98				
GRIK5	2901	broad.mit.edu	37	19	42546742	42546742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42546742C>T	ENST00000262895.3	-	11	1434	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S	GRIK5_ENST00000593562.1_Missense_Mutation_p.G479S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G479S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	479					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTCCAGGAGCCGTTGGGCTCG	0.692																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1435-1437)Ggc>Agc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						43.0	48.0	46.0					19																	42546742		2201	4298	6499	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42546742C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1435G>A	19.37:g.42546742C>T	ENSP00000262895:p.Gly479Ser					GRIK5_ENST00000593562.1_Missense_Mutation_p.G479S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G479S	p.G479S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			11	1434	-		Prostate(69;0.059)	479					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1435G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490012	0.96339	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.79940	-1.32;-1.32	6.17	6.17	0.99709	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.82630	2.6	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.91073	0.4894	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	479	Q16478	GRIK5_HUMAN	S	479	ENSP00000262895:G479S;ENSP00000301218:G479S	ENSP00000262895:G479S	G	-	1	0	GRIK5	47238582	1.000000	0.71417	0.975000	0.42487	0.957000	0.61999	5.976000	0.70484	2.941000	0.99782	0.655000	0.94253	GGC		0.692	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			27	26	0	0	0	1	0	27	26				
TRPM6	140803	broad.mit.edu	37	9	77377064	77377064	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77377064T>C	ENST00000360774.1	-	26	4760	c.4523A>G	c.(4522-4524)cAg>cGg	p.Q1508R	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1503R|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1508R|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1503R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1508R	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1508					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCACTACTCTGGGCCGATCT	0.527																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4522-4524)cAg>cGg		transient receptor potential cation channel, subfamily M, member 6							129.0	117.0	121.0					9																	77377064		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377064T>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4523A>G	9.37:g.77377064T>C	ENSP00000354006:p.Gln1508Arg					TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1503R|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1508R|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1503R|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1508R	p.Q1508R			Q9BX84	TRPM6_HUMAN			26	4760	-			1508					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4523A>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	7.862	0.726219	0.15439	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.53857	0.69;0.69;0.69;0.69;0.6	5.2	-1.49	0.08718	.	0.978587	0.08352	N	0.959091	T	0.38719	0.1051	L	0.45581	1.43	0.09310	N	1	B;B;B	0.30973	0.001;0.302;0.001	B;B;B	0.28139	0.002;0.086;0.004	T	0.20874	-1.0262	10	0.22109	T	0.4	.	5.4775	0.16704	0.0:0.2029:0.25:0.5472	.	1508;1503;1503	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	R	1508;1508;1503;1503;1508	ENSP00000354006:Q1508R;ENSP00000407341:Q1508R;ENSP00000396672:Q1503R;ENSP00000354962:Q1503R;ENSP00000366060:Q1508R	ENSP00000354006:Q1508R	Q	-	2	0	TRPM6	76566884	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.003000	0.13083	-0.552000	0.06167	-1.235000	0.01560	CAG		0.527	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		8	73	0	0	0	1	0	8	73				
LCA5L	150082	broad.mit.edu	37	21	40795308	40795308	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40795308A>G	ENST00000358268.2	-	5	959	c.431T>C	c.(430-432)cTc>cCc	p.L144P	LCA5L_ENST00000380671.2_Missense_Mutation_p.L144P|LCA5L_ENST00000485895.2_Missense_Mutation_p.L144P|LCA5L_ENST00000288350.3_Missense_Mutation_p.L144P			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	144										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CCTTGCTGAGAGTATTCGATG	0.338																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(430-432)cTc>cCc		Leber congenital amaurosis 5-like							69.0	71.0	71.0					21																	40795308		2203	4298	6501	SO:0001583	missense	150082							g.chr21:40795308A>G	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.431T>C	21.37:g.40795308A>G	ENSP00000351008:p.Leu144Pro					LCA5L_ENST00000288350.3_Missense_Mutation_p.L144P|LCA5L_ENST00000380671.2_Missense_Mutation_p.L144P|LCA5L_ENST00000485895.2_Missense_Mutation_p.L144P	p.L144P			O95447	LCA5L_HUMAN			5	959	-		Prostate(19;1.2e-06)	144					D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	c.431T>C	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477389	0.63849	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	4.95	4.95	0.65309	.	0.528179	0.16831	N	0.197773	D	0.90082	0.6902	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.939	D	0.90781	0.4679	10	0.72032	D	0.01	-3.4467	14.9267	0.70884	1.0:0.0:0.0:0.0	.	144;144	C9JFB6;O95447	.;LCA5L_HUMAN	P	144	ENSP00000288350:L144P;ENSP00000370046:L144P;ENSP00000351008:L144P;ENSP00000404521:L144P	ENSP00000288350:L144P	L	-	2	0	LCA5L	39717178	0.217000	0.23597	0.306000	0.25113	0.990000	0.78478	2.868000	0.48436	1.980000	0.57719	0.533000	0.62120	CTC		0.338	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		31	56	0	0	0	1	0	31	56				
THOC2	57187	broad.mit.edu	37	X	122757749	122757749	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122757749A>C	ENST00000245838.8	-	28	3423	c.3392T>G	c.(3391-3393)cTt>cGt	p.L1131R	THOC2_ENST00000355725.4_Missense_Mutation_p.L1131R|THOC2_ENST00000491737.1_Missense_Mutation_p.L1016R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1131					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTACCAAGGAAGTATTTTTGT	0.378																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3391-3393)cTt>cGt		THO complex 2							126.0	105.0	111.0					X																	122757749		1829	4067	5896	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122757749A>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3392T>G	X.37:g.122757749A>C	ENSP00000245838:p.Leu1131Arg					THOC2_ENST00000491737.1_Missense_Mutation_p.L1016R|THOC2_ENST00000355725.4_Missense_Mutation_p.L1131R	p.L1131R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			28	3423	-			1131					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3392T>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.623859	0.66901	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	.	.	.	5.91	5.91	0.95273	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000014	D	0.83995	0.5375	M	0.87547	2.89	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86560	0.1840	9	0.62326	D	0.03	-11.1019	15.2804	0.73778	1.0:0.0:0.0:0.0	.	1131	Q8NI27	THOC2_HUMAN	R	1131;1131;1016	.	ENSP00000245838:L1131R	L	-	2	0	THOC2	122585430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.992000	0.58205	0.486000	0.48141	CTT		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			13	104	0	0	0	1	0	13	104				
APLP2	334	broad.mit.edu	37	11	129996708	129996708	+	Missense_Mutation	SNP	C	C	T	rs372035411		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129996708C>T	ENST00000263574.5	+	8	1276	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	APLP2_ENST00000543137.1_Missense_Mutation_p.R309C|APLP2_ENST00000338167.5_Missense_Mutation_p.R402C|APLP2_ENST00000528499.1_Missense_Mutation_p.R346C|APLP2_ENST00000345598.5_Missense_Mutation_p.R173C|APLP2_ENST00000539648.1_Missense_Mutation_p.R190C|APLP2_ENST00000278756.7_Missense_Mutation_p.R412C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	402					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GATTCGGCACCGCAACCGAAT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19936	0.0		0.0	False		,,,				2504	0.001					ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1204-1206)Cgc>Tgc		amyloid beta (A4) precursor-like protein 2		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	154.0	136.0	142.0		1204,1036,517,1204	5.4	1.0	11		142	0,8594		0,0,4297	no	missense,missense,missense,missense	APLP2	NM_001142276.1,NM_001142277.1,NM_001142278.1,NM_001642.2	180,180,180,180	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	402/752,346/696,173/523,402/764	129996708	1,12995	2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129996708C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1204C>T	11.37:g.129996708C>T	ENSP00000263574:p.Arg402Cys					APLP2_ENST00000528499.1_Missense_Mutation_p.R346C|APLP2_ENST00000345598.5_Missense_Mutation_p.R173C|APLP2_ENST00000338167.5_Missense_Mutation_p.R402C|APLP2_ENST00000278756.7_Missense_Mutation_p.R412C|APLP2_ENST00000539648.1_Missense_Mutation_p.R190C|APLP2_ENST00000543137.1_Missense_Mutation_p.R309C	p.R402C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	8	1276	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	402					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1204C>T	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687775	0.88639	2.27E-4	0.0	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.39	5.39	0.77823	Amyloidogenic glycoprotein, E2 domain (2);	0.107189	0.64402	D	0.000003	T	0.74489	0.3723	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0;1.0	P;D;P;D;D;P;P	0.71414	0.665;0.962;0.876;0.973;0.914;0.833;0.873	T	0.78239	-0.2281	10	0.87932	D	0	-16.4202	18.1383	0.89630	0.0:1.0:0.0:0.0	.	190;402;346;173;340;346;402	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	C	346;190;402;173;402;412;309	ENSP00000435914:R346C;ENSP00000443728:R190C;ENSP00000263574:R402C;ENSP00000263575:R173C;ENSP00000345444:R402C;ENSP00000278756:R412C;ENSP00000444122:R309C	ENSP00000263574:R402C	R	+	1	0	APLP2	129501918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.606000	0.67641	2.533000	0.85409	0.561000	0.74099	CGC		0.458	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		37	73	0	0	0	1	0	37	73				
ZNF616	90317	broad.mit.edu	37	19	52618207	52618207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52618207C>T	ENST00000600228.1	-	4	2471	c.2210G>A	c.(2209-2211)aGa>aAa	p.R737K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGAATGAATTCTTTGGTGTTT	0.398																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2209-2211)aGa>aAa		zinc finger protein 616							122.0	126.0	125.0					19																	52618207		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618207C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2210G>A	19.37:g.52618207C>T	ENSP00000471000:p.Arg737Lys					ZNF616_ENST00000330123.5_3'UTR	p.R737K	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2471	-			737					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2210G>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132139	0.21041	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	-0.577	0.11727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23014	0.0556	N	0.13098	0.295	0.09310	N	1	B	0.14805	0.011	B	0.25614	0.062	T	0.23726	-1.0180	8	0.41790	T	0.15	.	4.4251	0.11498	0.0:0.6111:0.2326:0.1563	.	737	Q08AN1	ZN616_HUMAN	K	737	.	ENSP00000328722:R737K	R	-	2	0	ZNF616	57310019	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.309000	0.02728	-0.230000	0.09840	-0.350000	0.07774	AGA		0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		5	104	0	0	0	1	0	5	104				
RTN3	10313	broad.mit.edu	37	11	63488068	63488068	+	Silent	SNP	C	C	A	rs143833769	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63488068C>A	ENST00000377819.5	+	3	2248	c.2094C>A	c.(2092-2094)tcC>tcA	p.S698S	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.S679S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.S586S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	698					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAATGAGTCCGGTGGTTCTG	0.373																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2092-2094)tcC>tcA		reticulon 3							48.0	50.0	50.0					11																	63488068		2201	4297	6498	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63488068C>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2094C>A	11.37:g.63488068C>A						RTN3_ENST00000540798.1_Silent_p.S586S|RTN3_ENST00000339997.4_Silent_p.S679S|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	p.S698S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	2248	+			698					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.2094C>A	CCDS58141.1																																																																																				0.373	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		35	45	1	0	1.22384e-17	1	1.58917e-17	35	45				
ZNF71	58491	broad.mit.edu	37	19	57133187	57133187	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57133187C>A	ENST00000328070.6	+	3	766	c.532C>A	c.(532-534)Cgg>Agg	p.R178R		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CATCCACCAGCGGGTGCACAC	0.617																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(532-534)Cgg>Agg		zinc finger protein 71							44.0	45.0	45.0					19																	57133187		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133187C>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.532C>A	19.37:g.57133187C>A							p.R178R	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	766	+			178					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.532C>A	CCDS12947.1																																																																																				0.617	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		14	16	1	0	9.05144e-12	1	1.1316e-11	14	16				
NRDE2	55051	broad.mit.edu	37	14	90759193	90759193	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90759193C>T	ENST00000354366.3	-	9	1922	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E333K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	564																	TGGTCATCCTCTTCTGGTTCA	0.527																																						ENST00000354366.3																			0											c.(1690-1692)Gag>Aag		NRDE-2, necessary for RNA interference, domain containing							177.0	163.0	167.0					14																	90759193		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90759193C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1690G>A	14.37:g.90759193C>T	ENSP00000346335:p.Glu564Lys					NRDE2_ENST00000357904.3_Missense_Mutation_p.E333K	p.E564K	NM_017970.3	NP_060440.2					9	1922	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1690G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600173	0.66332	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.34472	1.36;1.36	5.46	5.46	0.80206	.	0.529823	0.19242	N	0.119125	T	0.31857	0.0810	L	0.44542	1.39	0.53688	D	0.999977	P	0.37781	0.608	B	0.33846	0.171	T	0.08554	-1.0716	10	0.15066	T	0.55	-19.6013	19.3157	0.94213	0.0:1.0:0.0:0.0	.	564	Q9H7Z3	CN102_HUMAN	K	564;333;143	ENSP00000346335:E564K;ENSP00000350579:E333K	ENSP00000346335:E564K	E	-	1	0	C14orf102	89828946	1.000000	0.71417	0.938000	0.37757	0.214000	0.24535	7.322000	0.79097	2.551000	0.86045	0.655000	0.94253	GAG		0.527	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		35	61	0	0	0	1	0	35	61				
ERMP1	79956	broad.mit.edu	37	9	5812918	5812918	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812918C>T	ENST00000339450.5	-	5	1081	c.992G>A	c.(991-993)cGt>cAt	p.R331H	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000381506.3_Missense_Mutation_p.R107H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	331						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCTGTAGATACGAAAGTCAGT	0.388																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(991-993)cGt>cAt		endoplasmic reticulum metallopeptidase 1							102.0	100.0	100.0					9																	5812918		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5812918C>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.992G>A	9.37:g.5812918C>T	ENSP00000340427:p.Arg331His					ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R107H	p.R331H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	5	1081	-		Acute lymphoblastic leukemia(23;0.158)	331					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.992G>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481060	0.96307	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T;T	0.49720	0.77;0.77	5.13	5.13	0.70059	Peptidase M28 (1);	0.056294	0.64402	D	0.000001	T	0.72692	0.3492	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76788	-0.2830	10	0.66056	D	0.02	-15.3029	18.945	0.92618	0.0:1.0:0.0:0.0	.	331;331	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	H	331;107	ENSP00000340427:R331H;ENSP00000370917:R107H	ENSP00000340427:R331H	R	-	2	0	ERMP1	5802918	1.000000	0.71417	0.945000	0.38365	0.983000	0.72400	7.425000	0.80255	2.536000	0.85505	0.591000	0.81541	CGT		0.388	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		6	83	0	0	0	1	0	6	83				
APBB1	322	broad.mit.edu	37	11	6417022	6417022	+	Silent	SNP	C	C	T	rs199823923		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6417022C>T	ENST00000609360.1	-	14	2058	c.1959G>A	c.(1957-1959)gcG>gcA	p.A653A	APBB1_ENST00000608704.1_Silent_p.A394A|APBB1_ENST00000608655.1_Silent_p.A433A|APBB1_ENST00000530885.1_Silent_p.A431A|APBB1_ENST00000389906.2_Silent_p.A653A|APBB1_ENST00000609331.1_Silent_p.A418A|APBB1_ENST00000608394.1_Silent_p.A394A|APBB1_ENST00000311051.3_Silent_p.A651A|APBB1_ENST00000529519.1_Silent_p.A178A|APBB1_ENST00000526240.1_5'UTR|APBB1_ENST00000299402.6_Silent_p.A651A|APBB1_ENST00000608645.1_Silent_p.A394A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	653	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTACCATGCACGCAGCCTGCA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18983	0.001		0.0	False		,,,				2504	0.0				GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1957-1959)gcG>gcA		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							59.0	57.0	57.0					11																	6417022		2200	4296	6496	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6417022C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1959G>A	11.37:g.6417022C>T						APBB1_ENST00000299402.6_Silent_p.A651A|APBB1_ENST00000530885.1_Silent_p.A431A|APBB1_ENST00000311051.3_Silent_p.A651A|APBB1_ENST00000524626.1_5'UTR	p.A653A	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	13	2058	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	653			PID 2.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.1959G>A																																																																																					0.627	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		22	24	0	0	0	1	0	22	24				
EPC2	26122	broad.mit.edu	37	2	149522544	149522544	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149522544G>A	ENST00000258484.6	+	7	1003	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	323					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTGTCTTTGAAAGAAGAGG	0.383																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(967-969)ttG>ttA		enhancer of polycomb homolog 2 (Drosophila)							59.0	58.0	58.0					2																	149522544		1842	4086	5928	SO:0001819	synonymous_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149522544G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.969G>A	2.37:g.149522544G>A							p.L323L	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	7	1003	+			323					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	c.969G>A	CCDS46422.1																																																																																				0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		9	17	0	0	0	1	0	9	17				
INPP5B	3633	broad.mit.edu	37	1	38343867	38343867	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38343867T>C	ENST00000373026.1	-	15	1910	c.1910A>G	c.(1909-1911)gAc>gGc	p.D637G	INPP5B_ENST00000373027.1_Missense_Mutation_p.D393G|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373023.2_Missense_Mutation_p.D637G|INPP5B_ENST00000373024.3_Missense_Mutation_p.D557G			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	637	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACCCCGATGTCAAACACTGA	0.493																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(1909-1911)gAc>gGc		inositol polyphosphate-5-phosphatase, 75kDa							99.0	102.0	101.0					1																	38343867		2008	4173	6181	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38343867T>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1910A>G	1.37:g.38343867T>C	ENSP00000362117:p.Asp637Gly					INPP5B_ENST00000373027.1_Missense_Mutation_p.D393G|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.D557G|INPP5B_ENST00000373026.1_Missense_Mutation_p.D637G	p.D637G	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			16	2003	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	637					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.1910A>G		.	.	.	.	.	.	.	.	.	.	T	14.50	2.554062	0.45487	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	5.58	5.58	0.84498	Endonuclease/exonuclease/phosphatase (1);Inositol polyphosphate-related phosphatase (1);	0.245205	0.46442	D	0.000281	D	0.96272	0.8784	M	0.80847	2.515	0.80722	D	1	P;P	0.44380	0.834;0.813	P;P	0.48654	0.503;0.585	D	0.95737	0.8780	10	0.38643	T	0.18	.	15.7543	0.78013	0.0:0.0:0.0:1.0	.	637;557	P32019;P32019-2	I5P2_HUMAN;.	G	393;637;637;637;557	ENSP00000362118:D393G;ENSP00000362114:D637G;ENSP00000362117:D637G;ENSP00000362115:D557G	ENSP00000362114:D637G	D	-	2	0	INPP5B	38116454	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	3.874000	0.56101	2.134000	0.65973	0.460000	0.39030	GAC		0.493	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		16	25	0	0	0	1	0	16	25				
TMEM125	128218	broad.mit.edu	37	1	43738592	43738592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43738592C>T	ENST00000432792.2	+	4	769	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	TMEM125_ENST00000439858.1_Missense_Mutation_p.R67W			Q96AQ2	TM125_HUMAN	transmembrane protein 125	67						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTGAATGGCGGCTAGCAAC	0.652																																						ENST00000432792.2																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(199-201)Cgg>Tgg		transmembrane protein 125							36.0	32.0	33.0					1																	43738592		2203	4298	6501	SO:0001583	missense	128218					integral to membrane		g.chr1:43738592C>T	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.199C>T	1.37:g.43738592C>T	ENSP00000429275:p.Arg67Trp					TMEM125_ENST00000439858.1_Missense_Mutation_p.R67W	p.R67W			Q96AQ2	TM125_HUMAN			4	769	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	67					D3DPX1	Missense_Mutation	SNP	ENST00000432792.2	37	c.199C>T	CCDS480.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785358	0.49997	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.58797	0.31;0.31	5.25	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.54323	1.7	0.52501	D	0.999958	P	0.36048	0.534	B	0.28991	0.097	T	0.46789	-0.9166	10	0.87932	D	0	.	8.8572	0.35236	0.416:0.5123:0.0:0.0717	.	67	Q96AQ2	TM125_HUMAN	W	67	ENSP00000429775:R67W;ENSP00000429275:R67W	ENSP00000429275:R67W	R	+	1	2	TMEM125	43511179	1.000000	0.71417	0.662000	0.29724	0.282000	0.26991	1.851000	0.39338	0.591000	0.29711	0.462000	0.41574	CGG		0.652	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		6	9	0	0	0	1	0	6	9				
FBN3	84467	broad.mit.edu	37	19	8139980	8139980	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8139980C>T	ENST00000600128.1	-	61	8091	c.7677G>A	c.(7675-7677)caG>caA	p.Q2559Q	FBN3_ENST00000601739.1_Silent_p.Q2559Q|FBN3_ENST00000270509.2_Silent_p.Q2559Q			Q75N90	FBN3_HUMAN	fibrillin 3	2559	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTGGGAGTGCTGGGTGAAAC	0.612																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7675-7677)caG>caA		fibrillin 3							43.0	49.0	47.0					19																	8139980		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8139980C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7677G>A	19.37:g.8139980C>T						FBN3_ENST00000270509.2_Silent_p.Q2559Q|FBN3_ENST00000601739.1_Silent_p.Q2559Q	p.Q2559Q			Q75N90	FBN3_HUMAN			61	8091	-			2559			EGF-like 42; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.7677G>A	CCDS12196.1																																																																																				0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		24	42	0	0	0	1	0	24	42				
KMT2C	58508	broad.mit.edu	37	7	151945270	151945270	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151945270T>A	ENST00000262189.6	-	14	2467	c.2249A>T	c.(2248-2250)aAa>aTa	p.K750I	KMT2C_ENST00000355193.2_Missense_Mutation_p.K750I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	750					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAAACATCTTTCACACAACC	0.383																																						ENST00000355193.2																			0											c.(2248-2250)aAa>aTa		lysine (K)-specific methyltransferase 2C							91.0	86.0	88.0					7																	151945270		2203	4296	6499	SO:0001583	missense	58508							g.chr7:151945270T>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2249A>T	7.37:g.151945270T>A	ENSP00000262189:p.Lys750Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.K750I	p.K750I							14	2467	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2249A>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.869307	0.32977	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84370	-1.84;-1.83	5.53	4.38	0.52667	.	0.135368	0.32430	N	0.006108	T	0.74076	0.3669	L	0.32530	0.975	0.22835	N	0.998677	P	0.45902	0.868	B	0.37198	0.243	T	0.67217	-0.5726	10	0.52906	T	0.07	.	7.8359	0.29369	0.0:0.0769:0.178:0.745	.	750	Q8NEZ4	MLL3_HUMAN	I	750	ENSP00000262189:K750I;ENSP00000347325:K750I	ENSP00000262189:K750I	K	-	2	0	MLL3	151576203	0.451000	0.25705	0.521000	0.27850	0.552000	0.35366	1.412000	0.34714	0.939000	0.37446	0.528000	0.53228	AAA		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	216	0	0	0	1	0	9	216				
ECD	11319	broad.mit.edu	37	10	74914148	74914148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74914148T>C	ENST00000372979.4	-	6	855	c.649A>G	c.(649-651)Att>Gtt	p.I217V	ECD_ENST00000454759.2_Missense_Mutation_p.I217V|ECD_ENST00000610256.1_5'Flank|ECD_ENST00000430082.2_Missense_Mutation_p.I217V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	217					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACTGCCACAATGCCAGCTGGA	0.473																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(649-651)Att>Gtt		ecdysoneless homolog (Drosophila)							55.0	57.0	56.0					10																	74914148		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74914148T>C	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.649A>G	10.37:g.74914148T>C	ENSP00000362070:p.Ile217Val					ECD_ENST00000430082.1_Missense_Mutation_p.I217V|ECD_ENST00000454759.1_Missense_Mutation_p.I217V	p.I217V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			6	855	-	Prostate(51;0.0119)		217					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.649A>G	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	T	6.378	0.437775	0.12104	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.2	1.14	0.20703	.	0.098165	0.64402	D	0.000002	T	0.17408	0.0418	L	0.28192	0.835	0.09310	N	0.999995	D;P;P	0.53619	0.961;0.483;0.483	P;B;B	0.54965	0.765;0.225;0.225	T	0.11867	-1.0570	10	0.02654	T	1	-8.3576	8.4973	0.33136	0.0:0.2783:0.0:0.7217	.	217;217;217	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	V	217;217;217;143;191	ENSP00000362070:I217V;ENSP00000401566:I217V;ENSP00000395786:I217V;ENSP00000391367:I143V;ENSP00000416288:I191V	ENSP00000362070:I217V	I	-	1	0	ECD	74584154	1.000000	0.71417	0.426000	0.26672	0.987000	0.75469	2.542000	0.45744	0.309000	0.22966	0.528000	0.53228	ATT		0.473	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		10	24	0	0	0	1	0	10	24				
SEH1L	81929	broad.mit.edu	37	18	12948202	12948202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12948202G>A	ENST00000262124.11	+	1	209	c.82G>A	c.(82-84)Gca>Aca	p.A28T	SEH1L_ENST00000399892.2_Missense_Mutation_p.A28T	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	28					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCGGCGGATGGCAACCTGCTC	0.677																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(82-84)Gca>Aca		SEH1-like (S. cerevisiae)							38.0	33.0	35.0					18																	12948202		2199	4297	6496	SO:0001583	missense	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12948202G>A	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.82G>A	18.37:g.12948202G>A	ENSP00000262124:p.Ala28Thr					SEH1L_ENST00000399892.2_Missense_Mutation_p.A28T	p.A28T	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			1	209	+			28					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.82G>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447478	0.96205	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.70282	-0.47;-0.47	4.21	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86830	0.6027	M	0.92970	3.365	0.80722	D	1	D;D	0.67145	0.974;0.996	D;D	0.68192	0.956;0.954	D	0.90589	0.4535	10	0.87932	D	0	-7.008	15.7334	0.77822	0.0:0.0:1.0:0.0	.	28;28	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	T	28	ENSP00000382779:A28T;ENSP00000262124:A28T	ENSP00000262124:A28T	A	+	1	0	SEH1L	12938202	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.188000	0.89710	2.179000	0.69175	0.462000	0.41574	GCA		0.677	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		11	13	0	0	0	1	0	11	13				
UBR1	197131	broad.mit.edu	37	15	43308006	43308006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43308006C>T	ENST00000290650.4	-	29	3167	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1030					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GATCTTCTGGCGATGTAGCCT	0.368																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(3088-3090)cGc>cAc		ubiquitin protein ligase E3 component n-recognin 1							204.0	179.0	188.0					15																	43308006		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43308006C>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3089G>A	15.37:g.43308006C>T	ENSP00000290650:p.Arg1030His					UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	p.R1030H	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	29	3167	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1030					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.3089G>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458437	0.96240	.	.	ENSG00000159459	ENST00000290650	T	0.68479	-0.33	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.83150	-0.0104	10	0.72032	D	0.01	-13.1252	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1030;1030	B4DYL2;Q8IWV7	.;UBR1_HUMAN	H	1030	ENSP00000290650:R1030H	ENSP00000290650:R1030H	R	-	2	0	UBR1	41095298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	CGC		0.368	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		34	79	0	0	0	1	0	34	79				
ASXL3	80816	broad.mit.edu	37	18	31320060	31320060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31320060C>T	ENST00000269197.5	+	11	2692	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	898					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATGAGCTTCCATCTGCTAA	0.373																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(2692-2694)Cca>Tca		additional sex combs like 3 (Drosophila)							97.0	95.0	95.0					18																	31320060		1861	4098	5959	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31320060C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2692C>T	18.37:g.31320060C>T	ENSP00000269197:p.Pro898Ser						p.P898S	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			11	2692	+			898					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2692C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	9.354	1.066339	0.20067	.	.	ENSG00000141431	ENST00000269197	T	0.13901	2.55	6.07	4.3	0.51218	.	0.838265	0.10714	N	0.642550	T	0.09642	0.0237	L	0.27053	0.805	0.27265	N	0.958518	B	0.20671	0.047	B	0.19148	0.024	T	0.37934	-0.9684	10	0.20046	T	0.44	.	7.2421	0.26102	0.2423:0.6304:0.0:0.1272	.	898	Q9C0F0	ASXL3_HUMAN	S	898	ENSP00000269197:P898S	ENSP00000269197:P898S	P	+	1	0	ASXL3	29574058	0.004000	0.15560	0.928000	0.36995	0.881000	0.50899	1.484000	0.35508	0.903000	0.36546	-0.126000	0.14955	CCA		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			16	49	0	0	0	1	0	16	49				
TYR	7299	broad.mit.edu	37	11	88911510	88911510	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911510A>C	ENST00000263321.5	+	1	891	c.389A>C	c.(388-390)gAg>gCg	p.E130A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	130					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	AGTGCCCCAGAGAAGGACAAA	0.448																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(388-390)gAg>gCg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						139.0	133.0	135.0					11																	88911510		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911510A>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.389A>C	11.37:g.88911510A>C	ENSP00000263321:p.Glu130Ala					TYR_ENST00000526139.1_3'UTR	p.E130A	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	891	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	130					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.389A>C	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379772	0.82682	.	.	ENSG00000077498	ENST00000263321	D	0.99226	-5.59	5.97	5.97	0.96955	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.95470	3.675	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.97793	1.0239	9	.	.	.	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	130	P14679	TYRO_HUMAN	A	130	ENSP00000263321:E130A	.	E	+	2	0	TYR	88551158	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	8.808000	0.91939	2.281000	0.76405	0.533000	0.62120	GAG		0.448	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		40	105	0	0	0	1	0	40	105				
FOCAD	54914	broad.mit.edu	37	9	20881924	20881924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20881924G>A	ENST00000380249.1	+	22	2736	c.2372G>A	c.(2371-2373)cGt>cAt	p.R791H	FOCAD_ENST00000338382.6_Missense_Mutation_p.R791H|FOCAD_ENST00000605086.1_Missense_Mutation_p.R227H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	791						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AATATGCCTCGTGGGATATAT	0.373																																						ENST00000380249.1																			0											c.(2371-2373)cGt>cAt		focadhesin							87.0	97.0	94.0					9																	20881924		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20881924G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2372G>A	9.37:g.20881924G>A	ENSP00000369599:p.Arg791His					FOCAD_ENST00000605086.1_Missense_Mutation_p.R227H|FOCAD_ENST00000338382.6_Missense_Mutation_p.R791H	p.R791H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			22	2736	+			791					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2372G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267272	0.95399	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.09445	2.98;2.98	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00731	-1.1590	10	0.66056	D	0.02	-7.8485	20.1022	0.97879	0.0:0.0:1.0:0.0	.	791	Q5VW36	K1797_HUMAN	H	791	ENSP00000369599:R791H;ENSP00000344307:R791H	ENSP00000344307:R791H	R	+	2	0	KIAA1797	20871924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.682000	0.98655	2.759000	0.94783	0.555000	0.69702	CGT		0.373	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		22	94	0	0	0	1	0	22	94				
PTPN12	5782	broad.mit.edu	37	7	77256149	77256149	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77256149G>A	ENST00000248594.6	+	13	1425	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PTPN12_ENST00000415482.2_Missense_Mutation_p.D266N|PTPN12_ENST00000435495.2_Missense_Mutation_p.D255N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	385	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAGGACAATGATAGATACCA	0.458																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1153-1155)Gat>Aat		protein tyrosine phosphatase, non-receptor type 12							93.0	83.0	86.0					7																	77256149		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256149G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1153G>A	7.37:g.77256149G>A	ENSP00000248594:p.Asp385Asn					PTPN12_ENST00000415482.2_Missense_Mutation_p.D266N|PTPN12_ENST00000435495.2_Missense_Mutation_p.D255N	p.D385N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1425	+			385			Interaction with TGFB1I1 (By similarity).		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1153G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124165	0.94429	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.37411	1.2;1.2;1.2	6.17	6.17	0.99709	.	0.043790	0.85682	D	0.000000	T	0.61640	0.2363	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49753	-0.8906	10	0.25106	T	0.35	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	385	Q05209	PTN12_HUMAN	N	385;266;266;255	ENSP00000248594:D385N;ENSP00000392429:D266N;ENSP00000397991:D255N	ENSP00000248594:D385N	D	+	1	0	PTPN12	77094085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.137000	0.94496	2.941000	0.99782	0.655000	0.94253	GAT		0.458	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			35	27	0	0	0	1	0	35	27				
SLC35F5	80255	broad.mit.edu	37	2	114508144	114508144	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114508144T>C	ENST00000245680.2	-	4	688	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	SLC35F5_ENST00000409342.1_Splice_Site_p.Y86C	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	92					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GGTAAAAACATACTGTAGAGG	0.343																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.e4-1		solute carrier family 35, member F5							74.0	80.0	78.0					2																	114508144		2203	4300	6503	SO:0001630	splice_region_variant	80255				transport	integral to membrane		g.chr2:114508144T>C	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.274-1A>G	2.37:g.114508144T>C						SLC35F5_ENST00000409342.1_Splice_Site_p.Y86_splice	p.Y92_splice	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			4	688	-			92					Q9H6P8|Q9H7D8	Splice_Site	SNP	ENST00000245680.2	37	c.273_splice	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901506	0.72754	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.50001	0.76;0.77	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.63931	0.2553	M	0.64404	1.975	0.54753	D	0.999986	D;D;D	0.89917	0.998;1.0;0.986	P;D;P	0.68943	0.819;0.961;0.65	T	0.65545	-0.6142	10	0.51188	T	0.08	-15.3661	13.782	0.63087	0.0:0.0:0.0:1.0	.	92;86;92	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	C	92;86;86	ENSP00000245680:Y92C;ENSP00000386754:Y86C	ENSP00000245680:Y92C	Y	-	2	0	SLC35F5	114224614	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.230000	0.78097	2.053000	0.61076	0.533000	0.62120	TAT		0.343	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181	Missense_Mutation	30	30	0	0	0	1	0	30	30				
RNF126	55658	broad.mit.edu	37	19	648907	648907	+	Silent	SNP	G	G	A	rs376157639		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:648907G>A	ENST00000292363.5	-	7	800	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGGGGACGGTGGGGAGGG	0.572																																						ENST00000292363.5																			0				lung(1)	1						c.(643-645)acC>acT		ring finger protein 126		G		1,4391	795.4+/-415.3	0,1,2195	40.0	46.0	44.0		645	-2.5	1.0	19		44	0,8596		0,0,4298	no	coding-synonymous	RNF126	NM_194460.2		0,1,6493	AA,AG,GG		0.0,0.0228,0.0077		215/312	648907	1,12987	2196	4298	6494	SO:0001819	synonymous_variant	55658						protein binding|zinc ion binding	g.chr19:648907G>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.645C>T	19.37:g.648907G>A							p.T215T	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	800	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	215						Silent	SNP	ENST00000292363.5	37	c.645C>T	CCDS12039.1																																																																																				0.572	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		5	8	0	0	0	1	0	5	8				
KIAA0355	9710	broad.mit.edu	37	19	34791788	34791788	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34791788C>A	ENST00000299505.6	+	2	1283	c.410C>A	c.(409-411)cCt>cAt	p.P137H		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	137										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCATAAAGCCTGAGATCGCC	0.493																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(409-411)cCt>cAt		KIAA0355							55.0	46.0	49.0					19																	34791788		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791788C>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.410C>A	19.37:g.34791788C>A	ENSP00000299505:p.Pro137His						p.P137H	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	1283	+	Esophageal squamous(110;0.162)		137					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.410C>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135249	0.77662	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71351	-0.4619	9	0.87932	D	0	-21.8683	19.2076	0.93739	0.0:1.0:0.0:0.0	.	137	O15063	K0355_HUMAN	H	137	.	ENSP00000299505:P137H	P	+	2	0	KIAA0355	39483628	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	7.445000	0.80570	2.607000	0.88179	0.561000	0.74099	CCT		0.493	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		16	21	1	0	6.72482e-11	1	8.32712e-11	16	21				
C14orf37	145407	broad.mit.edu	37	14	58471494	58471494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58471494C>T	ENST00000267485.7	-	8	2479	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	762						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGCATTACTCGATCTTGCAT	0.378																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(2284-2286)cGa>cAa		chromosome 14 open reading frame 37							129.0	134.0	132.0					14																	58471494		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58471494C>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.2285G>A	14.37:g.58471494C>T	ENSP00000267485:p.Arg762Gln						p.R762Q	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			8	2479	-			762					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.2285G>A	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480307	0.84747	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.46451	0.87	5.64	5.64	0.86602	.	0.100169	0.44097	D	0.000487	T	0.63450	0.2512	L	0.58101	1.795	0.39404	D	0.96663	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66048	-0.6020	10	0.87932	D	0	-7.6032	18.7057	0.91637	0.0:1.0:0.0:0.0	.	800;762;762	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	Q	762;800	ENSP00000267485:R762Q	ENSP00000267485:R762Q	R	-	2	0	C14orf37	57541247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.048000	0.64238	2.662000	0.90505	0.655000	0.94253	CGA		0.378	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		12	163	0	0	0	1	0	12	163				
SMC2	10592	broad.mit.edu	37	9	106877012	106877012	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106877012C>T	ENST00000286398.7	+	13	1861	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	SMC2_ENST00000303219.8_Missense_Mutation_p.L525F|SMC2_ENST00000374787.3_Missense_Mutation_p.L525F|SMC2_ENST00000374793.3_Missense_Mutation_p.L525F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	525	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTGAAAGGACTTGTGGCTTC	0.353																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1573-1575)Ctt>Ttt		structural maintenance of chromosomes 2							112.0	111.0	112.0					9																	106877012		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106877012C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1573C>T	9.37:g.106877012C>T	ENSP00000286398:p.Leu525Phe					SMC2_ENST00000374793.3_Missense_Mutation_p.L525F|SMC2_ENST00000303219.8_Missense_Mutation_p.L525F|SMC2_ENST00000374787.3_Missense_Mutation_p.L525F	p.L525F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			13	1861	+			525			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1573C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434412	0.83776	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.45	5.45	0.79879	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.83012	2.62	0.58432	D	0.999999	D;D	0.89917	0.972;1.0	P;D	0.74348	0.696;0.983	D	0.94106	0.7366	10	0.72032	D	0.01	-9.773	18.0288	0.89277	0.0:1.0:0.0:0.0	.	525;525	O95347;Q2KQ72	SMC2_HUMAN;.	F	525	ENSP00000286398:L525F;ENSP00000363925:L525F;ENSP00000306152:L525F;ENSP00000363919:L525F	ENSP00000286398:L525F	L	+	1	0	SMC2	105916833	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.597000	0.54031	2.836000	0.97738	0.655000	0.94253	CTT		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			7	57	0	0	0	1	0	7	57				
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	G	A	rs141068541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17638	0.0		0.0	False		,,,				2504	0.0					ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(307-309)agC>agT		chymotrypsin-like elastase family, member 1		G		4,4402	9.9+/-24.2	0,4,2199	179.0	137.0	151.0		309	2.3	0.8	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CELA1	NM_001971.5		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		103/259	51736376	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51736376G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.309C>T	12.37:g.51736376G>A							p.S103S	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			4	349	-			103			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.309C>T	CCDS8812.1																																																																																				0.577	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		41	52	0	0	0	1	0	41	52				
REXO4	57109	broad.mit.edu	37	9	136282748	136282748	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136282748G>T	ENST00000371942.3	-	1	416	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.L73M|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	73					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		ACCTCTTGCAGCGCCTTCCAG	0.617																																						ENST00000371942.3																			0				kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(217-219)Ctg>Atg		REX4, RNA exonuclease 4 homolog (S. cerevisiae)							69.0	79.0	76.0					9																	136282748		2203	4300	6503	SO:0001583	missense	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136282748G>T	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.217C>A	9.37:g.136282748G>T	ENSP00000361010:p.Leu73Met					REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.L73M	p.L73M	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	1	416	-			73					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	c.217C>A	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455643	0.63401	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000371935;ENST00000454825	T;T	0.39056	1.1;1.22	3.99	2.03	0.26663	.	0.176993	0.37178	N	0.002211	T	0.58864	0.2152	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56263	-0.8008	10	0.37606	T	0.19	-6.4997	9.6771	0.40047	0.1811:0.0:0.8189:0.0	.	73;73	Q9GZR2-2;Q9GZR2	.;REXO4_HUMAN	M	58;73;73;73	ENSP00000403272:L58M;ENSP00000361010:L73M	ENSP00000361003:L73M	L	-	1	2	REXO4	135272569	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	1.362000	0.34148	0.631000	0.30412	0.555000	0.69702	CTG		0.617	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			4	94	1	0	1	1	1	4	94				
PLXNA2	5362	broad.mit.edu	37	1	208215490	208215490	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215490G>A	ENST00000367033.3	-	22	4996	c.4239C>T	c.(4237-4239)atC>atT	p.I1413I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1413					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTATCGATGAGGTCAG	0.612																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4237-4239)atC>atT		plexin A2							83.0	83.0	83.0					1																	208215490		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208215490G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4239C>T	1.37:g.208215490G>A							p.I1413I	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	22	4996	-			1413					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.4239C>T	CCDS31013.1																																																																																				0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		36	31	0	0	0	1	0	36	31				
TULP4	56995	broad.mit.edu	37	6	158923090	158923090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923090C>T	ENST00000367097.3	+	13	3752	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	799					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGAACACCTGCAGAAGTCAGC	0.647																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2395-2397)Cag>Tag		tubby like protein 4							48.0	48.0	48.0					6																	158923090		2203	4300	6503	SO:0001587	stop_gained	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923090C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2395C>T	6.37:g.158923090C>T	ENSP00000356064:p.Gln799*					TULP4_ENST00000367094.2_Intron	p.Q799*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3752	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	799					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Nonsense_Mutation	SNP	ENST00000367097.3	37	c.2395C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	49	15.886245	0.99848	.	.	ENSG00000130338	ENST00000367097	.	.	.	5.39	5.39	0.77823	.	0.303301	0.31897	N	0.006893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.489	19.1604	0.93529	0.0:1.0:0.0:0.0	.	.	.	.	X	799	.	ENSP00000356064:Q799X	Q	+	1	0	TULP4	158843078	1.000000	0.71417	0.973000	0.42090	0.288000	0.27193	4.118000	0.57884	2.527000	0.85204	0.555000	0.69702	CAG		0.647	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		7	47	0	0	0	1	0	7	47				
HCFC1	3054	broad.mit.edu	37	X	153215027	153215027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153215027C>T	ENST00000310441.7	-	25	7011	c.6045G>A	c.(6043-6045)aaG>aaA	p.K2015K	HCFC1_ENST00000369984.4_Silent_p.K2060K|HCFC1_ENST00000354233.3_Silent_p.K1946K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	2015					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGGCCGCTTGTTGGCTG	0.532																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(6043-6045)aaG>aaA		host cell factor C1 (VP16-accessory protein)							102.0	103.0	103.0					X																	153215027		2002	4135	6137	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153215027C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.6045G>A	X.37:g.153215027C>T						HCFC1_ENST00000354233.3_Silent_p.K1946K|HCFC1_ENST00000369984.4_Silent_p.K2060K	p.K2015K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			25	7011	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		2015					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.6045G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	8.793	0.931046	0.18131	.	.	ENSG00000172534	ENST00000444191	.	.	.	5.43	3.67	0.42095	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51228	-0.8732	4	.	.	.	.	8.0949	0.30822	0.0:0.7392:0.0:0.2608	.	.	.	.	T	591	.	.	A	-	1	0	HCFC1	152868221	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	0.953000	0.29162	0.499000	0.27970	-0.295000	0.09555	GCG		0.532	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		29	58	0	0	0	1	0	29	58				
THRAP3	9967	broad.mit.edu	37	1	36752440	36752440	+	Silent	SNP	G	G	A	rs142896902		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752440G>A	ENST00000354618.5	+	4	833	c.609G>A	c.(607-609)gaG>gaA	p.E203E	THRAP3_ENST00000469141.2_Silent_p.E203E	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	203	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCCAAGGAGCAGACATTCT	0.537			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(607-609)gaG>gaA		thyroid hormone receptor associated protein 3							68.0	72.0	71.0					1																	36752440		2203	4300	6503	SO:0001819	synonymous_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752440G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.609G>A	1.37:g.36752440G>A						THRAP3_ENST00000469141.2_Silent_p.E203E	p.E203E	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	833	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	203			Ser-rich.		D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.609G>A	CCDS405.1																																																																																				0.537	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		47	75	0	0	0	1	0	47	75				
NT5C1B	93034	broad.mit.edu	37	2	18745165	18745165	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18745165A>G	ENST00000359846.2	-	10	1807	c.1730T>C	c.(1729-1731)aTc>aCc	p.I577T	NT5C1B_ENST00000304081.4_Missense_Mutation_p.I517T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.I577T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I577T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	577					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTGGGGCCGGATCTTCACCAA	0.502																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(1549-1551)aTc>aCc		5'-nucleotidase, cytosolic IB							80.0	82.0	81.0					2																	18745165		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18745165A>G	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1730T>C	2.37:g.18745165A>G	ENSP00000352904:p.Ile577Thr					NT5C1B_ENST00000600945.1_Missense_Mutation_p.I577T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I577T|NT5C1B_ENST00000359846.2_Missense_Mutation_p.I577T	p.I517T	NM_033253.3	NP_150278.2					9	1650	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1550T>C	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826267	0.90955	.	.	ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000304081;ENST00000359846	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.996;1.0;1.0;0.998	D	0.88232	0.2904	9	0.87932	D	0	-24.4859	16.8061	0.85666	1.0:0.0:0.0:0.0	.	560;594;517;560;517;577;577	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;5NT1B_HUMAN;.	T	577;517;577	.	ENSP00000305979:I517T	I	-	2	0	NT5C1B-RDH14;NT5C1B	18608646	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	ATC		0.502	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			35	64	0	0	0	1	0	35	64				
RELN	5649	broad.mit.edu	37	7	103132400	103132400	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103132400C>T	ENST00000428762.1	-	58	9602	c.9443G>A	c.(9442-9444)aGa>aAa	p.R3148K	RELN_ENST00000424685.2_Splice_Site_p.R3148K|RELN_ENST00000343529.5_Splice_Site_p.R3148K|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3148					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCACAAACCTTGCATCCTT	0.388																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e58+1		reelin							86.0	79.0	82.0					7																	103132400		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103132400C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9443+1G>A	7.37:g.103132400C>T						CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site_p.R3148_splice|RELN_ENST00000424685.2_Splice_Site_p.R3148_splice	p.R3148_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	58	9602	-			3148					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37	c.9443_splice	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982481	0.93044	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.22134	1.97;1.97;1.97	5.93	5.93	0.95920	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	L	0.36672	1.1	0.54753	D	0.999982	D;P	0.55800	0.973;0.951	D;P	0.63957	0.92;0.812	T	0.00599	-1.1651	9	.	.	.	.	15.8438	0.78871	0.0:1.0:0.0:0.0	.	3148;3148	P78509-2;P78509	.;RELN_HUMAN	K	3148;3148;3148;665;3148	ENSP00000392423:R3148K;ENSP00000345694:R3148K;ENSP00000388446:R3148K	.	R	-	2	0	RELN	102919636	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.399000	0.66314	2.815000	0.96918	0.561000	0.74099	AGA		0.388	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Missense_Mutation	7	17	0	0	0	1	0	7	17				
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T	rs201126543		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54374161C>T	ENST00000263925.7	-	3	928	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	LNX1_ENST00000306888.2_Missense_Mutation_p.R109Q|LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	205	Interaction with MAGEB18.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552																																						ENST00000306888.2																			1	Substitution - Missense(1)	p.R109Q(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(325-327)cGa>cAa		ligand of numb-protein X 1, E3 ubiquitin protein ligase							30.0	27.0	28.0					4																	54374161		2201	4299	6500	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54374161C>T	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.614G>A	4.37:g.54374161C>T	ENSP00000263925:p.Arg205Gln					LNX1-AS1_ENST00000514364.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.R205Q|LNX1-AS1_ENST00000511989.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA	p.R109Q	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	577	-	all_neural(26;0.153)		205					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.326G>A	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100746	0.37048	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.08008	3.14;4.6	5.31	2.61	0.31194	.	0.373061	0.30329	N	0.009870	T	0.03827	0.0108	L	0.32530	0.975	0.34287	D	0.682783	P;B	0.34934	0.476;0.09	B;B	0.17433	0.018;0.01	T	0.42649	-0.9439	10	0.10377	T	0.69	.	4.0475	0.09779	0.1328:0.5959:0.1284:0.1429	.	205;109	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	Q	109;43;205	ENSP00000302879:R109Q;ENSP00000263925:R205Q	ENSP00000263925:R205Q	R	-	2	0	LNX1	54068918	0.054000	0.20591	0.718000	0.30602	0.437000	0.31866	0.114000	0.15520	0.231000	0.21079	0.555000	0.69702	CGA		0.552	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			9	19	0	0	0	1	0	9	19				
ZBTB7A	51341	broad.mit.edu	37	19	4054046	4054046	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054046G>A	ENST00000322357.4	-	2	1463	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	ZBTB7A_ENST00000601588.1_Silent_p.G395G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	395					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCTTGCCGGCGCCCT	0.657																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1183-1185)ggC>ggT		zinc finger and BTB domain containing 7A							59.0	56.0	57.0					19																	4054046		2203	4300	6503	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054046G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1185C>T	19.37:g.4054046G>A						ZBTB7A_ENST00000601588.1_Silent_p.G395G	p.G395G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1463	-		Hepatocellular(1079;0.137)	395					D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.1185C>T	CCDS12119.1																																																																																				0.657	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		6	38	0	0	0	1	0	6	38				
ANKRD50	57182	broad.mit.edu	37	4	125593066	125593066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125593066C>T	ENST00000504087.1	-	4	2403	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A277T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	456										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCAATGCAAATTCTTGT	0.383																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1366-1368)Gca>Aca		ankyrin repeat domain 50							120.0	119.0	119.0					4																	125593066		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125593066C>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1366G>A	4.37:g.125593066C>T	ENSP00000425658:p.Ala456Thr					ANKRD50_ENST00000515641.1_Missense_Mutation_p.A277T	p.A456T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	2403	-			456					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1366G>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890741	0.72524	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68903	-0.36;-0.32	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.70595	2.14	0.80722	D	1	P	0.47034	0.889	P	0.50896	0.653	T	0.77882	-0.2422	10	0.59425	D	0.04	.	19.3359	0.94319	0.0:1.0:0.0:0.0	.	456	Q9ULJ7	ANR50_HUMAN	T	456;277	ENSP00000425658:A456T;ENSP00000425355:A277T	ENSP00000425658:A456T	A	-	1	0	ANKRD50	125812516	1.000000	0.71417	0.907000	0.35723	0.844000	0.47949	7.164000	0.77533	2.809000	0.96659	0.555000	0.69702	GCA		0.383	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		42	89	0	0	0	1	0	42	89				
ITGB1	3688	broad.mit.edu	37	10	33218771	33218771	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33218771A>G	ENST00000396033.2	-	4	490	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	ITGB1_ENST00000423113.1_Silent_p.L119L|ITGB1_ENST00000374956.4_Silent_p.L119L|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Silent_p.L119L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	119					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CGCAAAACCAACTGCTGTGGT	0.423																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(355-357)Ttg>Ctg		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							296.0	286.0	289.0					10																	33218771		2203	4300	6503	SO:0001819	synonymous_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33218771A>G	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.355T>C	10.37:g.33218771A>G						ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Silent_p.L119L|ITGB1_ENST00000374956.4_Silent_p.L119L|ITGB1_ENST00000423113.1_Silent_p.L119L	p.L119L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			4	490	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	119					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	c.355T>C	CCDS7174.1																																																																																				0.423	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		30	195	0	0	0	1	0	30	195				
MOSPD3	64598	broad.mit.edu	37	7	100211276	100211276	+	Missense_Mutation	SNP	G	G	A	rs144565703	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100211276G>A	ENST00000393950.2	+	3	740	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MOSPD3_ENST00000223054.4_Missense_Mutation_p.R153H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R153H|MOSPD3_ENST00000424091.2_Missense_Mutation_p.R143H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	153					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.R153H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGCGCCTCGCCCAGGGCCT	0.627																																						ENST00000393950.2																			1	Substitution - Missense(1)	p.R153H(1)	prostate(1)	breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(457-459)cGc>cAc		motile sperm domain containing 3		A	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47.0	46.0	47.0		458,458,428,458	-1.1	0.0	7	dbSNP_134	47	1,8599	814.6+/-407.0	0,1,4299	no	missense,missense,missense,missense	MOSPD3	NM_001040097.1,NM_001040098.1,NM_001040099.1,NM_023948.4	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	153/236,153/236,143/226,153/236	100211276	1,13005	2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100211276G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.458G>A	7.37:g.100211276G>A	ENSP00000377522:p.Arg153His					MOSPD3_ENST00000223054.4_Missense_Mutation_p.R153H|MOSPD3_ENST00000424091.2_Missense_Mutation_p.R143H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R153H	p.R153H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			3	740	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		153					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.458G>A	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	A	2.562	-0.301627	0.05495	0.0	1.16E-4	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	4.12	-1.15	0.09709	.	1.125280	0.06721	N	0.774910	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26677	-1.0096	9	0.14252	T	0.57	0.5426	5.7016	0.17885	0.2865:0.4441:0.2694:0.0	.	143;153	C9JE89;O75425	.;MSPD3_HUMAN	H	153;153;153;153;143;139	.	ENSP00000223054:R153H	R	+	2	0	MOSPD3	100049212	0.000000	0.05858	0.001000	0.08648	0.380000	0.30137	-0.203000	0.09438	-0.476000	0.06842	-0.360000	0.07572	CGC		0.627	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		18	37	0	0	0	1	0	18	37				
KIF5B	3799	broad.mit.edu	37	10	32306236	32306236	+	Nonsense_Mutation	SNP	G	G	A	rs150818260		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32306236G>A	ENST00000302418.4	-	24	3053	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	866					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCGAAGTCGCTTTTCCAAC	0.418			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2596-2598)Cga>Tga		kinesin family member 5B		G	stop/ARG	0,4406		0,0,2203	120.0	105.0	110.0		2596	4.7	1.0	10	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KIF5B	NM_004521.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		866/964	32306236	1,13005	2203	4300	6503	SO:0001587	stop_gained	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32306236G>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2596C>T	10.37:g.32306236G>A	ENSP00000307078:p.Arg866*					KIF5B_ENST00000493889.1_5'UTR	p.R866*	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			24	3053	-		Prostate(175;0.0137)	866					A0AVB2|Q5VZ85	Nonsense_Mutation	SNP	ENST00000302418.4	37	c.2596C>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	44	10.733115	0.99458	0.0	1.16E-4	ENSG00000170759	ENST00000302418	.	.	.	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2695	0.66143	0.0:0.0:0.7292:0.2708	.	.	.	.	X	866	.	ENSP00000307078:R866X	R	-	1	2	KIF5B	32346242	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.759000	0.62227	1.330000	0.45394	0.467000	0.42956	CGA		0.418	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		7	67	0	0	0	1	0	7	67				
RABGAP1L	9910	broad.mit.edu	37	1	174210653	174210653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174210653C>T	ENST00000251507.4	+	5	749	c.575C>T	c.(574-576)gCa>gTa	p.A192V	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.A155V|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGGAGATAGCATCTTTTCCA	0.363																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(574-576)gCa>gTa		RAB GTPase activating protein 1-like							88.0	84.0	86.0					1																	174210653		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174210653C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.575C>T	1.37:g.174210653C>T	ENSP00000251507:p.Ala192Val					RABGAP1L_ENST00000357444.6_Missense_Mutation_p.A155V|RABGAP1L_ENST00000367689.3_5'UTR	p.A192V	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			5	749	+			192			PID.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.575C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264006	0.95399	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.19669	2.13;2.13;2.13	5.51	5.51	0.81932	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	T	0.28996	-1.0026	10	0.49607	T	0.09	.	19.4086	0.94658	0.0:1.0:0.0:0.0	.	192;192;155	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	V	155;192;192;192	ENSP00000350027:A155V;ENSP00000251507:A192V;ENSP00000403136:A192V	ENSP00000251507:A192V	A	+	2	0	RABGAP1L	172477276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.595000	0.87683	0.563000	0.77884	GCA		0.363	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		18	39	0	0	0	1	0	18	39				
RIOK3	8780	broad.mit.edu	37	18	21054957	21054957	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21054957G>A	ENST00000339486.3	+	9	1676	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	RIOK3_ENST00000577501.1_Silent_p.K353K|RIOK3_ENST00000581585.1_Silent_p.K337K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	353	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TACTACTGAAGAAACACATTT	0.343																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(1057-1059)aaG>aaA		RIO kinase 3							104.0	100.0	101.0					18																	21054957		2203	4300	6503	SO:0001819	synonymous_variant	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21054957G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1059G>A	18.37:g.21054957G>A						RIOK3_ENST00000581585.1_Silent_p.K337K|RIOK3_ENST00000577501.1_Silent_p.K353K	p.K353K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			9	1676	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		353			Protein kinase.		Q8IXN9	Silent	SNP	ENST00000339486.3	37	c.1059G>A	CCDS11877.1																																																																																				0.343	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		4	65	0	0	0	1	0	4	65				
MCAT	27349	broad.mit.edu	37	22	43529105	43529105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529105C>T	ENST00000290429.6	-	4	1162	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	373					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGCAGCACATCCACGGCGCTG	0.617																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1117-1119)Gat>Aat		malonyl CoA:ACP acyltransferase (mitochondrial)							113.0	113.0	113.0					22																	43529105		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529105C>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1117G>A	22.37:g.43529105C>T	ENSP00000290429:p.Asp373Asn					MCAT_ENST00000327555.5_3'UTR	p.D373N	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1162	-		Ovarian(80;0.0694)	373					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.1117G>A	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034538	0.19590	.	.	ENSG00000100294	ENST00000290429	T	0.48836	0.8	5.46	3.34	0.38264	.	0.357716	0.30528	N	0.009421	T	0.38268	0.1034	L	0.41961	1.31	0.31404	N	0.676349	B	0.29955	0.263	B	0.27715	0.082	T	0.35251	-0.9796	10	0.16420	T	0.52	-30.107	15.1484	0.72677	0.0:0.8699:0.0:0.1301	.	373	Q8IVS2	FABD_HUMAN	N	373	ENSP00000290429:D373N	ENSP00000290429:D373N	D	-	1	0	MCAT	41859049	1.000000	0.71417	0.874000	0.34290	0.001000	0.01503	4.304000	0.59104	0.689000	0.31550	-0.797000	0.03246	GAT		0.617	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		6	127	0	0	0	1	0	6	127				
FAM73A	374986	broad.mit.edu	37	1	78309003	78309003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78309003G>T	ENST00000370791.3	+	8	939	c.907G>T	c.(907-909)Gat>Tat	p.D303Y	FAM73A_ENST00000443751.2_Missense_Mutation_p.D265Y	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	303						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TAAAGATACAGATATCACCAT	0.403																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(907-909)Gat>Tat		family with sequence similarity 73, member A							108.0	106.0	107.0					1																	78309003		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78309003G>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.907G>T	1.37:g.78309003G>T	ENSP00000359827:p.Asp303Tyr					FAM73A_ENST00000443751.2_Missense_Mutation_p.D265Y	p.D303Y	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	8	939	+			303					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.907G>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246937	0.39697	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23754	1.89;1.89	5.98	4.12	0.48240	.	0.158924	0.56097	D	0.000040	T	0.29126	0.0724	M	0.67953	2.075	0.47547	D	0.999453	D;D;D;D	0.89917	0.993;0.995;1.0;0.995	D;D;D;D	0.68943	0.911;0.946;0.961;0.946	T	0.08166	-1.0735	10	0.22706	T	0.39	-12.3023	9.4477	0.38708	0.2163:0.0:0.7837:0.0	.	265;303;303;303	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	Y	303;265	ENSP00000359827:D303Y;ENSP00000393675:D265Y	ENSP00000359827:D303Y	D	+	1	0	FAM73A	78081591	1.000000	0.71417	0.964000	0.40570	0.365000	0.29674	3.623000	0.54224	0.873000	0.35799	0.655000	0.94253	GAT		0.403	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		23	46	1	0	1.96895e-08	1	2.35655e-08	23	46				
PRKDC	5591	broad.mit.edu	37	8	48826496	48826496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48826496C>A	ENST00000314191.2	-	24	2802	c.2746G>T	c.(2746-2748)Gaa>Taa	p.E916*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E916*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	916					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V909_L917delVFLPRVTEL(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCGCTAATTCTGTGACTCGA	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			1	Deletion - In frame(1)	p.V909_L917delVFLPRVTEL(1)	NS(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(2746-2748)Gaa>Taa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							120.0	123.0	122.0					8																	48826496		1944	4139	6083	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48826496C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2746G>T	8.37:g.48826496C>A	ENSP00000313420:p.Glu916*					PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E916*|PRKDC_ENST00000523565.1_5'UTR	p.E916*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			24	2802	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	916					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.2746G>T		.	.	.	.	.	.	.	.	.	.	C	41	8.665604	0.98905	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	4.7	4.7	0.59300	.	0.066935	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.9989	0.89193	0.0:1.0:0.0:0.0	.	.	.	.	X	916	.	ENSP00000313420:E916X	E	-	1	0	PRKDC	48989049	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.379000	0.79691	2.291000	0.77112	0.563000	0.77884	GAA		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		12	102	1	0	0.0135373	1	0.0140872	12	102				
HDAC4	9759	broad.mit.edu	37	2	240061441	240061441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240061441C>T	ENST00000345617.3	-	9	1708	c.917G>A	c.(916-918)aGc>aAc	p.S306N	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.S275N|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	306	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTCCCGGAGCTGTTGTTGGG	0.662																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(916-918)aGc>aAc		histone deacetylase 4							72.0	76.0	75.0					2																	240061441		2203	4299	6502	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240061441C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.917G>A	2.37:g.240061441C>T	ENSP00000264606:p.Ser306Asn					HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.S275N|HDAC4_ENST00000553145.1_5'UTR	p.S306N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	9	1708	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	306			Interaction with MEF2A.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.917G>A	CCDS2529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.592907|4.592907	0.86953|0.86953	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000445704|ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	.|T;T	.|0.65364	.|-0.15;0.98	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78978|0.78978	0.4369|0.4369	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;P;D;D;B;P	.|0.76494	.|0.999;0.9;0.991;0.991;0.078;0.839	.|D;P;P;P;B;P	.|0.75484	.|0.986;0.466;0.894;0.787;0.028;0.448	T|T	0.80826|0.80826	-0.1209|-0.1209	5|9	.|.	.|.	.|.	.|.	16.591|16.591	0.84765|0.84765	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301;189;275;275;274;306	.|B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.|.;.;.;.;.;HDAC4_HUMAN	T|N	50|306;189;275;189	.|ENSP00000264606:S306N;ENSP00000443057:S275N	.|.	A|S	-|-	1|2	0|0	HDAC4|HDAC4	239726378|239726378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	7.050000|7.050000	0.76620|0.76620	2.235000|2.235000	0.73313|0.73313	0.580000|0.580000	0.79431|0.79431	GCT|AGC		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		33	60	0	0	0	1	0	33	60				
CATSPERD	257062	broad.mit.edu	37	19	5754220	5754220	+	Silent	SNP	G	G	A	rs553271657		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5754220G>A	ENST00000381624.3	+	13	1303	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.S72S	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	414					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TGACTGCTTCGTTGATACCCC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17883	0.0		0.0	False		,,,				2504	0.0					ENST00000381624.3																			0											c.(1240-1242)tcG>tcA		catsper channel auxiliary subunit delta							158.0	160.0	159.0					19																	5754220		1977	4171	6148	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5754220G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1242G>A	19.37:g.5754220G>A						CATSPERD_ENST00000381614.2_Silent_p.S72S|CATSPERD_ENST00000309164.7_3'UTR	p.S414S	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			13	1303	+			414					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1242G>A	CCDS12149.2																																																																																				0.453	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		65	86	0	0	0	1	0	65	86				
CAPZA3	93661	broad.mit.edu	37	12	18891391	18891391	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891391C>A	ENST00000317658.3	+	1	347	c.189C>A	c.(187-189)ctC>ctA	p.L63L	PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	63					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CTGTACCACTCTGCATCGATG	0.433																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(187-189)ctC>ctA		capping protein (actin filament) muscle Z-line, alpha 3							127.0	115.0	119.0					12																	18891391		2203	4300	6503	SO:0001819	synonymous_variant	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891391C>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.189C>A	12.37:g.18891391C>A							p.L63L	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	347	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	63					Q969J0	Silent	SNP	ENST00000317658.3	37	c.189C>A	CCDS8681.1																																																																																				0.433	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		19	47	1	0	5.35267e-07	1	6.25286e-07	19	47				
MEGF8	1954	broad.mit.edu	37	19	42840958	42840958	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42840958G>T	ENST00000251268.6	+	7	1244		c.e7-1		MEGF8_ENST00000334370.4_Splice_Site	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8						BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCTTCGGTAGGTTCTCTGTG	0.617																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e7-1		multiple EGF-like-domains 8							73.0	78.0	77.0					19																	42840958		2203	4300	6503	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42840958G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1245-1G>T	19.37:g.42840958G>T						MEGF8_ENST00000251268.6_Splice_Site		NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			7	1879	+		Prostate(69;0.00682)						A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37			.	.	.	.	.	.	.	.	.	.	G	14.21	2.468179	0.43839	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5296	0.67915	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47532798	1.000000	0.71417	0.979000	0.43373	0.311000	0.27955	8.416000	0.90244	2.368000	0.80403	0.462000	0.41574	.		0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Intron	23	41	1	0	3.6726e-16	1	4.7309e-16	23	41				
FRZB	2487	broad.mit.edu	37	2	183699582	183699582	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183699582G>A	ENST00000295113.4	-	6	1581	c.972C>T	c.(970-972)cgC>cgT	p.R324R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	324			R -> G (in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775). {ECO:0000269|PubMed:15210948}.		brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R324R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGATTTAGTTGCGTGCTTGCC	0.428																																						ENST00000295113.4																			1	Substitution - coding silent(1)	p.R324R(1)	lung(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(970-972)cgC>cgT		frizzled-related protein							125.0	121.0	122.0					2																	183699582		2203	4300	6503	SO:0001819	synonymous_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183699582G>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.972C>T	2.37:g.183699582G>A							p.R324R	NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		6	1581	-			324		R -> G (in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775).			O00181|Q99686	Silent	SNP	ENST00000295113.4	37	c.972C>T	CCDS2286.1																																																																																				0.428	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		18	37	0	0	0	1	0	18	37				
OR6C65	403282	broad.mit.edu	37	12	55795115	55795115	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55795115T>C	ENST00000379665.2	+	1	902	c.803T>C	c.(802-804)tTg>tCg	p.L268S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGTATGGCTTTGAGCAAAGGT	0.393																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(802-804)tTg>tCg		olfactory receptor, family 6, subfamily C, member 65							93.0	88.0	90.0					12																	55795115		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795115T>C		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.803T>C	12.37:g.55795115T>C	ENSP00000368986:p.Leu268Ser						p.L268S	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	902	+			268					B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.803T>C	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	T	7.642	0.681070	0.14907	.	.	ENSG00000205328	ENST00000379665	T	0.00193	8.58	4.09	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.244905	0.20878	U	0.084060	T	0.00241	0.0007	L	0.52206	1.635	0.09310	N	1	P	0.36483	0.555	P	0.47430	0.547	T	0.31336	-0.9947	10	0.62326	D	0.03	.	1.8177	0.03104	0.1653:0.0957:0.1708:0.5682	.	268	A6NJZ3	O6C65_HUMAN	S	268	ENSP00000368986:L268S	ENSP00000368986:L268S	L	+	2	0	OR6C65	54081382	0.000000	0.05858	0.016000	0.15963	0.070000	0.16714	-0.086000	0.11233	1.627000	0.50400	0.348000	0.21847	TTG		0.393	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			31	45	0	0	0	1	0	31	45				
MFSD6L	162387	broad.mit.edu	37	17	8702189	8702189	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702189G>T	ENST00000329805.4	-	1	478	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	84						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAGCCGAGCAGGGAGCCGATC	0.602																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(250-252)Ctg>Atg		major facilitator superfamily domain containing 6-like							54.0	59.0	57.0					17																	8702189		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8702189G>T	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.250C>A	17.37:g.8702189G>T	ENSP00000330051:p.Leu84Met						p.L84M	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	478	-			84					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.250C>A	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140156	0.37825	.	.	ENSG00000185156	ENST00000329805	D	0.88509	-2.39	4.39	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.52532	D	0.000064	D	0.92596	0.7648	M	0.76002	2.32	0.37696	D	0.924021	D	0.89917	1.0	D	0.85130	0.997	D	0.92502	0.6009	10	0.56958	D	0.05	-19.9123	7.8539	0.29470	0.2065:0.0:0.7935:0.0	.	84	Q8IWD5	MFS6L_HUMAN	M	84	ENSP00000330051:L84M	ENSP00000330051:L84M	L	-	1	2	MFSD6L	8642914	0.944000	0.32072	0.998000	0.56505	0.017000	0.09413	1.418000	0.34782	1.024000	0.39682	0.655000	0.94253	CTG		0.602	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		21	45	1	0	2.27525e-19	1	2.97756e-19	21	45				
ADH6	130	broad.mit.edu	37	4	100131284	100131284	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131284G>T	ENST00000237653.7	-	5	906	c.522C>A	c.(520-522)agC>agA	p.S174R	ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.S174R|ADH6_ENST00000394899.2_Missense_Mutation_p.S174R|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	174					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AAAAGCCACAGCTAATTAGGC	0.433																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(520-522)agC>agA		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						118.0	114.0	115.0					4																	100131284		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100131284G>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.522C>A	4.37:g.100131284G>T	ENSP00000237653:p.Ser174Arg					ADH6_ENST00000394899.2_Missense_Mutation_p.S174R|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.S174R|ADH6_ENST00000504257.1_5'UTR	p.S174R			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	5	604	-			174					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.522C>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055153	0.36277	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.23147	3.88;1.92;1.92;3.88	4.36	1.44	0.22558	GroES-like (1);	0.238322	0.49305	D	0.000151	T	0.44138	0.1279	M	0.85197	2.74	0.80722	D	1	P;B;D	0.57571	0.928;0.142;0.98	P;B;P	0.58331	0.737;0.042;0.837	T	0.40440	-0.9563	10	0.87932	D	0	-24.0395	7.0942	0.25301	0.1574:0.0:0.7047:0.1379	.	174;174;174	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	R	174;174;174;110	ENSP00000378358:S174R;ENSP00000378359:S174R;ENSP00000237653:S174R;ENSP00000426187:S110R	ENSP00000237653:S174R	S	-	3	2	ADH6	100350307	1.000000	0.71417	0.918000	0.36340	0.690000	0.40134	1.778000	0.38614	0.398000	0.25338	0.460000	0.39030	AGC		0.433	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		23	37	1	0	1.36565e-18	1	1.78266e-18	23	37				
MICAL2	9645	broad.mit.edu	37	11	12248580	12248580	+	Missense_Mutation	SNP	C	C	T	rs139751583	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12248580C>T	ENST00000256194.4	+	15	2185	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	MICAL2_ENST00000527546.1_Missense_Mutation_p.R633C|MICAL2_ENST00000342902.5_Missense_Mutation_p.R633C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R633C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R633C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	633					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGATTCTTGGCGCAAAAACTA	0.468																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1897-1899)Cgc>Tgc		microtubule associated monooxygenase, calponin and LIM domain containing 2		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	101.0	92.0	95.0		1897	1.0	1.0	11	dbSNP_134	95	1,8587	1.2+/-3.3	0,1,4293	no	missense	MICAL2	NM_014632.2	180	0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	633/1125	12248580	2,12988	2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12248580C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1897C>T	11.37:g.12248580C>T	ENSP00000256194:p.Arg633Cys					MICAL2_ENST00000537344.1_Missense_Mutation_p.R633C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R633C|MICAL2_ENST00000342902.5_Missense_Mutation_p.R633C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R633C	p.R633C	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	15	2185	+			633					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1897C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001208	0.35320	2.27E-4	1.16E-4	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.61742	0.09;0.08;0.09;0.08;0.18	4.88	0.964	0.19655	.	0.660458	0.15690	N	0.249466	T	0.41096	0.1144	N	0.22421	0.69	0.41318	D	0.987152	D;P;D;P;P;P	0.53312	0.959;0.939;0.958;0.921;0.951;0.84	P;B;B;B;B;B	0.46339	0.513;0.299;0.296;0.339;0.394;0.276	T	0.29458	-1.0011	10	0.56958	D	0.05	.	3.2181	0.06706	0.1842:0.417:0.2969:0.102	.	166;633;633;633;633;633	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	C	633;166;633;633;633;633	ENSP00000441689:R633C;ENSP00000256194:R633C;ENSP00000433965:R633C;ENSP00000344894:R633C;ENSP00000368932:R633C	ENSP00000256194:R633C	R	+	1	0	MICAL2	12205156	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	1.351000	0.34022	0.024000	0.15214	-0.136000	0.14681	CGC		0.468	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		27	36	0	0	0	1	0	27	36				
KDM4D	55693	broad.mit.edu	37	11	94731271	94731271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94731271G>T	ENST00000335080.5	+	3	1567	c.735G>T	c.(733-735)aaG>aaT	p.K245N	KDM4D_ENST00000536741.1_Missense_Mutation_p.K245N	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	245	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCGGCACAAGGTGGCCCTCA	0.592																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(733-735)aaG>aaT		lysine (K)-specific demethylase 4D							43.0	45.0	45.0					11																	94731271		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731271G>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.735G>T	11.37:g.94731271G>T	ENSP00000334181:p.Lys245Asn					KDM4D_ENST00000536741.1_Missense_Mutation_p.K245N	p.K245N	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	1567	+			245			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.735G>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597431	0.66332	.	.	ENSG00000186280	ENST00000335080	T	0.72051	-0.62	3.73	3.73	0.42828	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	U	0.000001	D	0.82967	0.5152	M	0.89030	3	0.50813	D	0.999893	D	0.89917	1.0	D	0.71184	0.972	D	0.84221	0.0461	10	0.72032	D	0.01	-35.4768	7.3275	0.26563	0.1161:0.0:0.8839:0.0	.	245	Q6B0I6	KDM4D_HUMAN	N	245	ENSP00000334181:K245N	ENSP00000334181:K245N	K	+	3	2	KDM4D	94370919	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	1.774000	0.38573	2.390000	0.81377	0.462000	0.41574	AAG		0.592	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		10	45	1	0	0.000442599	1	0.00048047	10	45				
NOTCH4	4855	broad.mit.edu	37	6	32169988	32169988	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32169988A>G	ENST00000375023.3	-	21	3758	c.3620T>C	c.(3619-3621)gTc>gCc	p.V1207A		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1207					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGGTCTGGGACTCCCAGAGA	0.642																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3619-3621)gTc>gCc		notch 4							58.0	65.0	63.0					6																	32169988		1509	2709	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169988A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3620T>C	6.37:g.32169988A>G	ENSP00000364163:p.Val1207Ala						p.V1207A	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			21	3758	-			1207					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3620T>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817243	0.50633	.	.	ENSG00000204301	ENST00000375023	D	0.82344	-1.6	4.77	4.77	0.60923	Notch domain (2);	0.364687	0.19936	N	0.102760	T	0.70736	0.3258	L	0.54323	1.7	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.72836	-0.4172	10	0.56958	D	0.05	.	12.2813	0.54765	1.0:0.0:0.0:0.0	.	1207	Q99466	NOTC4_HUMAN	A	1207	ENSP00000364163:V1207A	ENSP00000364163:V1207A	V	-	2	0	NOTCH4	32277966	0.983000	0.35010	1.000000	0.80357	0.978000	0.69477	6.944000	0.75940	2.008000	0.58898	0.459000	0.35465	GTC		0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			17	35	0	0	0	1	0	17	35				
RBL2	5934	broad.mit.edu	37	16	53472995	53472995	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53472995G>A	ENST00000262133.6	+	2	445	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	103					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTGTAAGCAAAGGGACA	0.353																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(307-309)aGc>aAc		retinoblastoma-like 2 (p130)							103.0	98.0	99.0					16																	53472995		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53472995G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.308G>A	16.37:g.53472995G>A	ENSP00000262133:p.Ser103Asn						p.S103N	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			2	445	+			103					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.308G>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207246	0.95033	.	.	ENSG00000103479	ENST00000262133;ENST00000544405	T;T	0.74002	-0.8;-0.8	5.54	5.54	0.83059	Domain of unknown function DUF3452, retinoblastoma-associated (1);Cyclin-like (1);	0.053250	0.85682	D	0.000000	T	0.78400	0.4277	L	0.31664	0.95	0.80722	D	1	D;D	0.57571	0.974;0.98	P;P	0.58620	0.842;0.721	T	0.80603	-0.1309	10	0.72032	D	0.01	-14.0492	19.4797	0.95005	0.0:0.0:1.0:0.0	.	103;103	Q8NE70;Q08999	.;RBL2_HUMAN	N	103;29	ENSP00000262133:S103N;ENSP00000443744:S29N	ENSP00000262133:S103N	S	+	2	0	RBL2	52030496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.501000	0.66950	2.593000	0.87608	0.650000	0.86243	AGC		0.353	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		24	42	0	0	0	1	0	24	42				
PRPF8	10594	broad.mit.edu	37	17	1578972	1578972	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578972G>T	ENST00000572621.1	-	18	3079	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P	PRPF8_ENST00000304992.6_Silent_p.P938P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	938	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTAATCCAGGGTGGGAACA	0.527																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2812-2814)ccC>ccA		pre-mRNA processing factor 8							162.0	179.0	173.0					17																	1578972		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1578972G>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2814C>A	17.37:g.1578972G>T						PRPF8_ENST00000304992.6_Silent_p.P938P	p.P938P			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	18	3079	-			938					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.2814C>A	CCDS11010.1																																																																																				0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			106	153	1	0	5.93467e-45	1	8.01502e-45	106	153				
HGS	9146	broad.mit.edu	37	17	79667739	79667739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79667739G>T	ENST00000329138.4	+	20	2166	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H	SLC25A10_ENST00000571730.1_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	677	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGCCTCCCAGGCCCCACAGA	0.667																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2029-2031)caG>caT		hepatocyte growth factor-regulated tyrosine kinase substrate							28.0	29.0	29.0					17																	79667739		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667739G>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2031G>T	17.37:g.79667739G>T	ENSP00000331201:p.Gln677His						p.Q677H	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2166	+	all_neural(118;0.0878)|all_lung(278;0.23)		677			Gln-rich.|Interaction with NF2.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.2031G>T	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818234	0.32145	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.42900	0.96	4.19	2.02	0.26589	.	0.771860	0.11627	N	0.545138	T	0.37156	0.0993	L	0.51422	1.61	0.53688	D	0.999978	B	0.11235	0.004	B	0.12156	0.007	T	0.32295	-0.9912	10	0.56958	D	0.05	-30.1149	9.8099	0.40817	0.2025:0.0:0.7975:0.0	.	677	O14964	HGS_HUMAN	H	677;591	ENSP00000331201:Q677H	ENSP00000331201:Q677H	Q	+	3	2	HGS	77278144	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.439000	0.44846	0.980000	0.38523	-0.339000	0.08088	CAG		0.667	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		4	36	1	0	0.150653	1	0.152692	4	36				
CFAP61	26074	broad.mit.edu	37	20	20180469	20180469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20180469C>T	ENST00000245957.5	+	17	1931	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		619								p.R619R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGTTCCCGTGCGACCACGACG	0.532																																						ENST00000245957.5																			1	Substitution - coding silent(1)	p.R619R(1)	central_nervous_system(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1855-1857)Cga>Tga		chromosome 20 open reading frame 26							154.0	136.0	142.0					20																	20180469		2203	4300	6503	SO:0001587	stop_gained	26074							g.chr20:20180469C>T																												ENST00000245957.5:c.1855C>T	20.37:g.20180469C>T	ENSP00000245957:p.Arg619*					C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.R619*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1931	+			619					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Nonsense_Mutation	SNP	ENST00000245957.5	37	c.1855C>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501595	0.96371	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.	.	.	5.57	5.57	0.84162	.	0.078392	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5625	0.95378	0.0:1.0:0.0:0.0	.	.	.	.	X	559;187;599;619	.	ENSP00000245957:R619X	R	+	1	2	C20orf26	20128469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.609000	0.46317	2.620000	0.88729	0.563000	0.77884	CGA		0.532	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			8	118	0	0	0	1	0	8	118				
FSTL4	23105	broad.mit.edu	37	5	132537633	132537633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132537633G>A	ENST00000265342.7	-	15	2067	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	606						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGATGTGGTTGATGATGA	0.572																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1816-1818)aaC>aaT		follistatin-like 4							191.0	180.0	184.0					5																	132537633		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132537633G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1818C>T	5.37:g.132537633G>A						CTB-49A3.2_ENST00000509051.1_RNA	p.N606N	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2067	-		all_cancers(142;0.244)	606					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1818C>T	CCDS34238.1																																																																																				0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		39	59	0	0	0	1	0	39	59				
NLRC5	84166	broad.mit.edu	37	16	57092917	57092917	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57092917C>A	ENST00000262510.6	+	29	4089	c.3864C>A	c.(3862-3864)gcC>gcA	p.A1288A	NLRC5_ENST00000539144.1_Silent_p.A1259A|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Silent_p.A1288A|NLRC5_ENST00000308149.7_Silent_p.A1259A	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1288					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAAAGTGCCCTGTACCTGC	0.587																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3862-3864)gcC>gcA		NLR family, CARD domain containing 5							260.0	235.0	244.0					16																	57092917		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57092917C>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3864C>A	16.37:g.57092917C>A						NLRC5_ENST00000539144.1_Silent_p.A1259A|NLRC5_ENST00000308149.7_Silent_p.A1259A|NLRC5_ENST00000262510.6_Silent_p.A1288A	p.A1288A			Q86WI3	NLRC5_HUMAN			29	4089	+		all_neural(199;0.225)	1288					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3864C>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	c	0.241	-1.013571	0.02095	.	.	ENSG00000140853	ENST00000538805;ENST00000399221	.	.	.	4.64	3.66	0.41972	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.21256	N	0.999745	.	.	.	.	.	.	T	0.14172	-1.0482	4	.	.	.	.	8.8515	0.35203	0.0:0.8942:0.0:0.1058	.	.	.	.	T	1040;40	.	.	P	+	1	0	NLRC5	55650418	0.001000	0.12720	0.225000	0.23894	0.048000	0.14542	0.080000	0.14802	2.404000	0.81709	0.544000	0.68410	CCT		0.587	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		103	150	1	0	3.676e-42	1	4.96062e-42	103	150				
FAT4	79633	broad.mit.edu	37	4	126398495	126398495	+	Intron	SNP	G	G	A	rs143740948		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126398495G>A	ENST00000394329.3	+	13	12486				FAT4_ENST00000335110.5_Missense_Mutation_p.G2423D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4						branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCAGTATGGCGATTTTATT	0.368																																						ENST00000335110.5																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7267-7269)gGc>gAc		FAT atypical cadherin 4		G		1,4405	2.1+/-5.4	0,1,2202	91.0	90.0	91.0			1.5	0.0	4	dbSNP_134	91	0,8600		0,0,4300	no	intron	FAT4	NM_024582.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			126398495	1,13005	2203	4300	6503	SO:0001627	intron_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126398495G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12473+6G>A	4.37:g.126398495G>A						FAT4_ENST00000394329.3_Intron	p.G2423D			Q6V0I7	FAT4_HUMAN			12	7268	+			4160			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7268G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404260	0.25378	2.27E-4	0.0	ENSG00000196159	ENST00000335110	T	0.75704	-0.96	5.26	1.46	0.22682	.	.	.	.	.	T	0.51856	0.1699	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29397	-1.0013	7	.	.	.	.	1.8048	0.03078	0.2368:0.1137:0.482:0.1675	.	2423	Q6V0I7-2	.	D	2423	ENSP00000335169:G2423D	.	G	+	2	0	FAT4	126617945	0.005000	0.15991	0.007000	0.13788	0.135000	0.20990	-0.228000	0.09114	0.201000	0.20466	0.650000	0.86243	GGC		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	98	0	0	0	1	0	5	98				
DBNL	28988	broad.mit.edu	37	7	44096431	44096431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44096431G>A	ENST00000448521.1	+	5	501	c.403G>A	c.(403-405)Gct>Act	p.A135T	DBNL_ENST00000468694.1_Missense_Mutation_p.A135T|DBNL_ENST00000440166.1_Missense_Mutation_p.A32T|DBNL_ENST00000452943.1_Missense_Mutation_p.A110T|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.A40T|DBNL_ENST00000494774.1_Missense_Mutation_p.A135T	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	135					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGTGGCCAAGGCTTCAGGTGC	0.622																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000494774.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(403-405)Gct>Act		drebrin-like							122.0	103.0	109.0					7																	44096431		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44096431G>A	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.403G>A	7.37:g.44096431G>A	ENSP00000411701:p.Ala135Thr					DBNL_ENST00000448521.1_Missense_Mutation_p.A135T|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000490734.2_Missense_Mutation_p.A40T|DBNL_ENST00000452943.1_Missense_Mutation_p.A110T|DBNL_ENST00000440166.1_Missense_Mutation_p.A32T|DBNL_ENST00000468694.1_Missense_Mutation_p.A135T|DBNL_ENST00000497184.1_3'UTR	p.A135T	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN			5	424	+			135					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.403G>A	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.431034|5.431034	0.96150|0.96150	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000448521;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000432854	T;T;T;T;T;T|.	0.38560|.	1.5;1.99;2.02;1.13;1.52;2.0|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67683|0.67683	0.2919|0.2919	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.995;0.984;1.0;1.0;0.995;0.994|.	D;D;D;P;D;D;P;P|.	0.91635|.	0.998;0.998;0.961;0.894;0.998;0.999;0.863;0.895|.	T|T	0.64984|0.64984	-0.6278|-0.6278	10|5	0.72032|.	D|.	0.01|.	-26.1346|-26.1346	17.2092|17.2092	0.86926|0.86926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	32;83;65;40;110;135;135;135|.	B4DEM2;B4DXL9;B4DDU5;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.;.;.;.;.;.;DBNL_HUMAN;.|.	T|D	135;32;110;135;135;40;65|63	ENSP00000411701:A135T;ENSP00000415173:A32T;ENSP00000405343:A110T;ENSP00000417653:A135T;ENSP00000419992:A135T;ENSP00000417749:A40T|.	ENSP00000415173:A32T|.	A|G	+|+	1|2	0|0	DBNL|DBNL	44062956|44062956	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.467000|9.467000	0.97671|0.97671	2.355000|2.355000	0.79922|0.79922	0.558000|0.558000	0.71614|0.71614	GCT|GGC		0.622	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		30	62	0	0	0	1	0	30	62				
STPG2	285555	broad.mit.edu	37	4	99055575	99055575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99055575C>A	ENST00000295268.3	-	2	234	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	49								p.E49*(1)									AAAGTACTTTCTCTGGCAGTC	0.358																																						ENST00000295268.3																			1	Substitution - Nonsense(1)	p.E49*(1)	large_intestine(1)								c.(145-147)Gaa>Taa		sperm-tail PG-rich repeat containing 2							96.0	98.0	97.0					4																	99055575		2203	4299	6502	SO:0001587	stop_gained	285555							g.chr4:99055575C>A	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.145G>T	4.37:g.99055575C>A	ENSP00000295268:p.Glu49*						p.E49*	NM_174952.2	NP_777612.1					2	234	-									Nonsense_Mutation	SNP	ENST00000295268.3	37	c.145G>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417323	0.83449	.	.	ENSG00000163116	ENST00000295268	.	.	.	5.38	2.66	0.31614	.	0.516613	0.19035	N	0.124446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.3708	6.3034	0.21125	0.0:0.6783:0.1514:0.1704	.	.	.	.	X	49	.	ENSP00000295268:E49X	E	-	1	0	C4orf37	99274598	0.297000	0.24408	0.322000	0.25334	0.385000	0.30292	0.080000	0.14802	0.311000	0.23014	-0.182000	0.12963	GAA		0.358	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		8	90	1	0	5.68852e-11	1	7.05143e-11	8	90				
HIVEP3	59269	broad.mit.edu	37	1	42045648	42045648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42045648G>T	ENST00000372583.1	-	4	5706	c.4821C>A	c.(4819-4821)tgC>tgA	p.C1607*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1607					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTTTAAATAGCACCAACTGA	0.483																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4819-4821)tgC>tgA		human immunodeficiency virus type I enhancer binding protein 3							197.0	160.0	173.0					1																	42045648		2203	4300	6503	SO:0001587	stop_gained	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045648G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4821C>A	1.37:g.42045648G>T	ENSP00000361664:p.Cys1607*					HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.C1607*	p.C1607*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5835	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1607					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	c.4821C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	51	17.865769	0.99895	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0672	19.5069	0.95121	0.0:0.0:1.0:0.0	.	.	.	.	X	1607	.	ENSP00000247584:C1607X	C	-	3	2	HIVEP3	41818235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.574000	0.74014	2.941000	0.99782	0.655000	0.94253	TGC		0.483	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		6	154	1	0	8.12818e-05	1	8.99451e-05	6	154				
PAPLN	89932	broad.mit.edu	37	14	73718426	73718426	+	Missense_Mutation	SNP	C	C	T	rs150353286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73718426C>T	ENST00000554301.1	+	8	888	c.725C>T	c.(724-726)gCg>gTg	p.A242V	PAPLN_ENST00000381166.3_Missense_Mutation_p.A242V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A242V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A215V|PAPLN_ENST00000427855.1_Missense_Mutation_p.A242V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	242						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCATCGAGGCGGCCCGGGCC	0.672																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(724-726)gCg>gTg		papilin, proteoglycan-like sulfated glycoprotein		C	VAL/ALA	0,4406		0,0,2203	40.0	46.0	44.0		644	-3.4	0.0	14	dbSNP_134	44	1,8595	1.2+/-3.3	0,1,4297	no	missense	PAPLN	NM_173462.3	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	215/1252	73718426	1,13001	2203	4298	6501	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73718426C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.725C>T	14.37:g.73718426C>T	ENSP00000451803:p.Ala242Val					PAPLN_ENST00000340738.5_Missense_Mutation_p.A215V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A242V|PAPLN_ENST00000554301.1_Missense_Mutation_p.A242V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A242V	p.A242V			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	9	827	+			242					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.725C>T		.	.	.	.	.	.	.	.	.	.	C	7.484	0.649369	0.14516	0.0	1.16E-4	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.99	-3.38	0.04883	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.23492	0.0568	N	0.25789	0.76	0.21147	N	0.999775	B;B;B	0.19817	0.031;0.039;0.036	B;B;B	0.15052	0.007;0.012;0.006	T	0.22906	-1.0203	9	0.15952	T	0.53	.	0.7031	0.00911	0.3065:0.3196:0.1832:0.1906	.	242;242;215	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	V	215;242;242;242;242	ENSP00000345395:A215V;ENSP00000403403:A242V;ENSP00000370558:A242V;ENSP00000451803:A242V;ENSP00000451729:A242V	ENSP00000216658:A242V	A	+	2	0	PAPLN	72788179	0.281000	0.24258	0.006000	0.13384	0.331000	0.28603	0.678000	0.25277	-0.452000	0.07087	0.561000	0.74099	GCG		0.672	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		30	42	0	0	0	1	0	30	42				
C10orf90	118611	broad.mit.edu	37	10	128118356	128118356	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128118356C>A	ENST00000284694.7	-	7	2081	c.1961G>T	c.(1960-1962)aGa>aTa	p.R654I	C10orf90_ENST00000454341.1_Splice_Site_p.R557I|C10orf90_ENST00000544758.1_Splice_Site_p.R751I|C10orf90_ENST00000480379.1_Splice_Site_p.R58I|C10orf90_ENST00000356858.3_Splice_Site_p.R607I	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	654	ALMS motif. {ECO:0000250}.			R -> G (in Ref. 3; BAB71512). {ECO:0000305}.	mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AACCAAGTACCTCTTAGATCG	0.448																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.e7+1		chromosome 10 open reading frame 90							252.0	229.0	237.0					10																	128118356		2203	4300	6503	SO:0001630	splice_region_variant	118611							g.chr10:128118356C>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1961+1G>T	10.37:g.128118356C>A						C10orf90_ENST00000454341.1_Splice_Site_p.R557_splice|C10orf90_ENST00000480379.1_Splice_Site_p.R58_splice|C10orf90_ENST00000544758.1_Splice_Site_p.R751_splice|C10orf90_ENST00000356858.3_Splice_Site_p.R607_splice	p.R654_splice	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	7	2081	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	654	R -> G (in Ref. 3; BAB71512).				B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Splice_Site	SNP	ENST00000284694.7	37	c.1961_splice	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.863623|3.863623	0.71949|0.71949	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.|T;T;T;T	.|0.35421	.|1.31;1.4;1.38;1.37	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.45606	.|D	.|0.000357	.|T	.|0.56688	.|0.2002	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.997	.|T	.|0.55585	.|-0.8118	.|9	.|.	.|.	.|.	-20.4303|-20.4303	15.3688|15.3688	0.74545|0.74545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|751;654;557	.|F5GZL2;Q96M02;Q96M02-2	.|.;CJ090_HUMAN;.	X|I	197|607;654;557;751;654	.|ENSP00000284694:R654I;ENSP00000398786:R557I;ENSP00000444369:R751I;ENSP00000405995:R654I	.|.	E|R	-|-	1|2	0|0	C10orf90|C10orf90	128108346|128108346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	5.569000|5.569000	0.67391|0.67391	2.378000|2.378000	0.81104|0.81104	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.448	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	Missense_Mutation	23	35	1	0	9.86323e-18	1	1.2813e-17	23	35				
KCNK16	83795	broad.mit.edu	37	6	39290160	39290160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39290160G>A	ENST00000373229.5	-	1	170	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	KCNK16_ENST00000373227.4_Missense_Mutation_p.R53C|KCNK16_ENST00000507712.1_5'UTR|KCNK16_ENST00000425054.2_Missense_Mutation_p.R53C|KCNK16_ENST00000437525.2_Missense_Mutation_p.R53C	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	53					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCAGGAAGCGCAGCTTCTCC	0.592																																						ENST00000425054.2																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(157-159)Cgc>Tgc		potassium channel, subfamily K, member 16							73.0	64.0	67.0					6																	39290160		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39290160G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.157C>T	6.37:g.39290160G>A	ENSP00000362326:p.Arg53Cys					KCNK16_ENST00000373229.5_Missense_Mutation_p.R53C|KCNK16_ENST00000373227.4_Missense_Mutation_p.R53C|KCNK16_ENST00000437525.2_Missense_Mutation_p.R53C|KCNK16_ENST00000507712.1_5'UTR	p.R53C	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN			1	156	-			53					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.157C>T	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562337	0.65538	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000373227;ENST00000437525	T;T;T;T	0.19394	2.41;2.39;3.01;2.15	5.81	4.93	0.64822	.	0.351430	0.29609	N	0.011676	T	0.31136	0.0787	M	0.78801	2.425	0.43936	D	0.996598	D;D;D;D	0.89917	0.999;0.987;1.0;0.993	P;P;P;P	0.62184	0.642;0.827;0.899;0.786	T	0.19582	-1.0301	10	0.72032	D	0.01	.	9.8723	0.41182	0.0731:0.0:0.757:0.1699	.	53;53;53;53	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	C	53	ENSP00000362326:R53C;ENSP00000391498:R53C;ENSP00000362324:R53C;ENSP00000415375:R53C	ENSP00000362324:R53C	R	-	1	0	KCNK16	39398138	0.995000	0.38212	1.000000	0.80357	0.962000	0.63368	1.247000	0.32815	1.427000	0.47276	0.655000	0.94253	CGC		0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		7	15	0	0	0	1	0	7	15				
C1QB	713	broad.mit.edu	37	1	22987483	22987483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22987483C>T	ENST00000314933.6	+	3	498	c.366C>T	c.(364-366)atC>atT	p.I122I	C1QB_ENST00000509305.1_Silent_p.I120I	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	122	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGAAAATCGCCTTCTCTG	0.617																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(358-360)atC>atT		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						113.0	106.0	109.0					1																	22987483		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987483C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.366C>T	1.37:g.22987483C>T						C1QB_ENST00000314933.6_Silent_p.I122I	p.I120I			P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	706	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	122			C1q.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.360C>T	CCDS228.1																																																																																				0.617	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		32	63	0	0	0	1	0	32	63				
C7orf31	136895	broad.mit.edu	37	7	25176355	25176355	+	Nonsense_Mutation	SNP	G	G	A	rs146941527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25176355G>A	ENST00000409280.1	-	10	1317	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	C7orf31_ENST00000283905.3_Nonsense_Mutation_p.R337*			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	337										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTAATCGGGCAATTCGT	0.428													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18976	0.0		0.0	False		,,,				2504	0.0					ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1009-1011)Cga>Tga		chromosome 7 open reading frame 31		G	stop/ARG	7,4399	11.4+/-27.6	0,7,2196	113.0	117.0	116.0		1009	0.6	0.5	7	dbSNP_134	116	0,8600		0,0,4300	yes	stop-gained	C7orf31	NM_138811.3		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		337/591	25176355	7,12999	2203	4300	6503	SO:0001587	stop_gained	136895							g.chr7:25176355G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1009C>T	7.37:g.25176355G>A	ENSP00000386604:p.Arg337*					C7orf31_ENST00000283905.3_Nonsense_Mutation_p.R337*	p.R337*			Q8N865	CG031_HUMAN			10	1317	-			337					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Nonsense_Mutation	SNP	ENST00000409280.1	37	c.1009C>T	CCDS5394.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.9	4.684918	0.88639	0.001589	0.0	ENSG00000153790	ENST00000409280;ENST00000283905	.	.	.	5.84	0.567	0.17325	.	0.181736	0.37577	N	0.002030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2356	15.2165	0.73270	0.0:0.0:0.3858:0.6142	.	.	.	.	X	337	.	ENSP00000283905:R337X	R	-	1	2	C7orf31	25142880	0.990000	0.36364	0.452000	0.26994	0.210000	0.24377	0.736000	0.26130	-0.174000	0.10743	-0.169000	0.13324	CGA		0.428	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		51	158	0	0	0	1	0	51	158				
PLEKHA1	59338	broad.mit.edu	37	10	124189225	124189225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124189225G>A	ENST00000368990.3	+	12	1117	c.986G>A	c.(985-987)cGc>cAc	p.R329H	PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.A343T|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R329H|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.A343T	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	329					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACAGCCTCTCGCAGCAACTCT	0.537																																						ENST00000368988.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(1027-1029)Gca>Aca		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1							97.0	87.0	90.0					10																	124189225		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124189225G>A	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.986G>A	10.37:g.124189225G>A	ENSP00000357986:p.Arg329His					PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R329H|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.A343T|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R329H	p.A343T			Q9HB21	PKHA1_HUMAN			13	1150	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	0					B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.1027G>A	CCDS7629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.50|10.50	1.366413|1.366413	0.24771|0.24771	.|.	.|.	ENSG00000107679|ENSG00000107679	ENST00000368989;ENST00000368988|ENST00000368990;ENST00000409427;ENST00000433307	T;T|T;T	0.07216|0.05996	3.21;3.21|3.36;3.36	5.71|5.71	4.81|4.81	0.61882|0.61882	.|.	.|1.158350	.|0.05801	.|N	.|0.612268	T|T	0.05227|0.05227	0.0139|0.0139	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.30001|0.30001	-0.9993|-0.9993	7|10	0.22706|0.42905	T|T	0.39|0.14	-0.2071|-0.2071	11.4915|11.4915	0.50383|0.50383	0.1883:0.0:0.8117:0.0|0.1883:0.0:0.8117:0.0	.|.	.|329	.|Q9HB21	.|PKHA1_HUMAN	T|H	343|329	ENSP00000357985:A343T;ENSP00000357984:A343T|ENSP00000357986:R329H;ENSP00000394416:R329H	ENSP00000357984:A343T|ENSP00000357986:R329H	A|R	+|+	1|2	0|0	PLEKHA1|PLEKHA1	124179215|124179215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	1.838000|1.838000	0.39211|0.39211	1.562000|1.562000	0.49601|0.49601	-0.145000|-0.145000	0.13849|0.13849	GCA|CGC		0.537	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		19	20	0	0	0	1	0	19	20				
CHST6	4166	broad.mit.edu	37	16	75513169	75513169	+	Silent	SNP	C	C	A	rs529839563	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75513169C>A	ENST00000332272.4	-	3	737	c.558G>T	c.(556-558)ccG>ccT	p.P186P	CHST6_ENST00000390664.2_Silent_p.P186P|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	186					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGAGCAGCGGGTAGAGCA	0.706																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(556-558)ccG>ccT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							47.0	50.0	49.0					16																	75513169		2197	4300	6497	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513169C>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.558G>T	16.37:g.75513169C>A						RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P186P	p.P186P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	737	-			186					D3DUK3	Silent	SNP	ENST00000332272.4	37	c.558G>T	CCDS10918.1																																																																																				0.706	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		41	40	1	0	1.57945e-13	1	2.0047e-13	41	40				
PARP9	83666	broad.mit.edu	37	3	122259582	122259582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122259582C>A	ENST00000360356.2	-	8	1834	c.1607G>T	c.(1606-1608)aGa>aTa	p.R536I	PARP9_ENST00000462315.1_Missense_Mutation_p.R501I|PARP9_ENST00000477522.2_Missense_Mutation_p.R501I|PARP9_ENST00000492382.1_Missense_Mutation_p.R81I|PARP9_ENST00000471785.1_Missense_Mutation_p.R501I	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	536					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTCAGGATTCTTTGGATCCA	0.433																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1501-1503)aGa>aTa		poly (ADP-ribose) polymerase family, member 9							152.0	150.0	151.0					3																	122259582		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259582C>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1607G>T	3.37:g.122259582C>A	ENSP00000353512:p.Arg536Ile					PARP9_ENST00000360356.2_Missense_Mutation_p.R536I|PARP9_ENST00000492382.1_Missense_Mutation_p.R81I|PARP9_ENST00000471785.1_Missense_Mutation_p.R501I|PARP9_ENST00000477522.2_Missense_Mutation_p.R501I	p.R501I	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1795	-			536					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1502G>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224403	0.58668	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.18338	3.22;2.86;3.08;3.08;2.22	4.83	0.88	0.19161	.	0.331742	0.26366	N	0.024788	T	0.22936	0.0554	M	0.63428	1.95	0.09310	N	0.999999	D;D;P;P	0.57257	0.979;0.966;0.928;0.928	P;P;P;P	0.54312	0.547;0.641;0.73;0.748	T	0.06267	-1.0836	10	0.72032	D	0.01	.	3.106	0.06342	0.1904:0.5058:0.0:0.3038	.	501;536;81;501	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	I	536;81;501;501;459;501	ENSP00000353512:R536I;ENSP00000417664:R81I;ENSP00000419506:R501I;ENSP00000419001:R501I;ENSP00000418894:R501I	ENSP00000353512:R536I	R	-	2	0	PARP9	123742272	0.001000	0.12720	0.002000	0.10522	0.241000	0.25554	0.171000	0.16685	0.646000	0.30693	0.650000	0.86243	AGA		0.433	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		54	74	1	0	6.176e-18	1	8.03537e-18	54	74				
CSNK1G2	1455	broad.mit.edu	37	19	1978308	1978308	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978308G>A	ENST00000255641.8	+	3	687	c.192G>A	c.(190-192)aaG>aaA	p.K64K		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	64	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCAGGAAAGAATCTCTATA	0.657																																					Ovarian(91;880 1392 21236 36928 37598)	ENST00000255641.8																			0				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(190-192)aaG>aaA		casein kinase 1, gamma 2							76.0	88.0	84.0					19																	1978308		2202	4300	6502	SO:0001819	synonymous_variant	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1978308G>A	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.192G>A	19.37:g.1978308G>A							p.K64K	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	687	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	64			Protein kinase.		B5BU42|O00704|Q8WUB1	Silent	SNP	ENST00000255641.8	37	c.192G>A	CCDS12077.1																																																																																				0.657	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319		9	39	0	0	0	1	0	9	39				
RIBC2	26150	broad.mit.edu	37	22	45826798	45826798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45826798C>T	ENST00000342894.3	+	6	1117	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.R303C			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	235						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGAAGAAAAGCGCCAGCGAGA	0.652																																						ENST00000342894.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(703-705)Cgc>Tgc		RIB43A domain with coiled-coils 2							13.0	15.0	14.0					22																	45826798		2201	4299	6500	SO:0001583	missense	26150							g.chr22:45826798C>T	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.703C>T	22.37:g.45826798C>T	ENSP00000342529:p.Arg235Cys					RIBC2_ENST00000538017.1_Missense_Mutation_p.R303C|RIBC2_ENST00000466226.1_3'UTR	p.R235C			Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1117	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	235					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.703C>T		.	.	.	.	.	.	.	.	.	.	C	7.294	0.611687	0.14066	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.23552	1.9;1.9	3.9	1.61	0.23674	.	0.473004	0.18960	N	0.126440	T	0.14485	0.0350	.	.	.	0.46798	D	0.9992	B	0.29886	0.26	B	0.25884	0.064	T	0.09422	-1.0675	9	0.44086	T	0.13	-0.1666	3.2562	0.06832	0.3147:0.4572:0.0:0.2281	.	235	Q9H4K1	RIBC2_HUMAN	C	235;303	ENSP00000342529:R235C;ENSP00000444196:R303C	ENSP00000342529:R235C	R	+	1	0	RIBC2	44205462	0.053000	0.20554	0.997000	0.53966	0.066000	0.16364	-0.020000	0.12525	0.858000	0.35431	-0.150000	0.13652	CGC		0.652	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		6	5	0	0	0	1	0	6	5				
ATP10A	57194	broad.mit.edu	37	15	25967018	25967018	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25967018A>G	ENST00000356865.6	-	7	1260	c.1149T>C	c.(1147-1149)atT>atC	p.I383I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	383					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATGCTTTAACAATTTCAATGG	0.468																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1147-1149)atT>atC		ATPase, class V, type 10A							104.0	98.0	100.0					15																	25967018		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25967018A>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1149T>C	15.37:g.25967018A>G							p.I383I	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	7	1260	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	383					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1149T>C	CCDS32178.1																																																																																				0.468	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		22	31	0	0	0	1	0	22	31				
LDLRAD4	753	broad.mit.edu	37	18	13621168	13621168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13621168G>A	ENST00000359446.5	+	4	702	c.234G>A	c.(232-234)atG>atA	p.M78I	LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M41I|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.M78I|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M41I|LDLRAD4_ENST00000585931.1_Start_Codon_SNP_p.M1I|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M78I	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	78					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										TCACGGTGATGGTGGTGGTCA	0.627																																						ENST00000361205.4																			0											c.(232-234)atG>atA		low density lipoprotein receptor class A domain containing 4							214.0	157.0	176.0					18																	13621168		2203	4300	6503	SO:0001583	missense	753							g.chr18:13621168G>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.234G>A	18.37:g.13621168G>A	ENSP00000352420:p.Met78Ile					LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M78I|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M41I|LDLRAD4_ENST00000585931.1_Start_Codon_SNP_p.M1I|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M41I|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M78I	p.M78I	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					5	902	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.234G>A	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490574	0.96339	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.28069	1.63;1.73	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D;D	0.61080	0.962;0.986;0.962;0.986;0.986;0.989	D;D;D;D;D;D	0.71656	0.946;0.974;0.946;0.974;0.974;0.958	T	0.61926	-0.6962	10	0.72032	D	0.01	4.8878	19.156	0.93510	0.0:0.0:1.0:0.0	.	20;20;41;41;78;78	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	I	78;78;41;41;20;20	ENSP00000354753:M78I;ENSP00000382741:M78I	ENSP00000352420:M41I	M	+	3	0	C18orf1	13611168	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.228000	0.95250	2.645000	0.89757	0.655000	0.94253	ATG		0.627	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		51	80	0	0	0	1	0	51	80				
CR1	1378	broad.mit.edu	37	1	207753865	207753865	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753865G>C	ENST00000367049.4	+	31	5123	c.5123G>C	c.(5122-5124)tGt>tCt	p.C1708S	CR1_ENST00000367051.1_Missense_Mutation_p.C1258S|CR1_ENST00000367052.1_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.C1258S|CR1_ENST00000367053.1_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1258	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGAAATCCTGTGATGACTTC	0.433																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(5122-5124)tGt>tCt		complement component (3b/4b) receptor 1 (Knops blood group)							214.0	195.0	201.0					1																	207753865		1844	4100	5944	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207753865G>C	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5123G>C	1.37:g.207753865G>C	ENSP00000356016:p.Cys1708Ser					CR1_ENST00000400960.2_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.C1258S|CR1_ENST00000367053.1_Missense_Mutation_p.C1258S|CR1_ENST00000367051.1_Missense_Mutation_p.C1258S	p.C1708S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			31	5123	+			1258			Sushi 26.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.5123G>C	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730878	0.48939	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.89	4.89	0.63831	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	D	0.84745	0.5540	H	0.96430	3.82	0.33990	D	0.649036	D;D;D	0.76494	0.982;0.999;0.995	P;D;D	0.81914	0.889;0.995;0.988	D	0.92220	0.5783	9	0.87932	D	0	.	13.5825	0.61911	0.0:0.0:1.0:0.0	.	1258;1258;1708	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	S	1258;1258;1258;1258;808;1708	ENSP00000356019:C1258S;ENSP00000356018:C1258S;ENSP00000356020:C1258S;ENSP00000383744:C1258S;ENSP00000436139:C808S;ENSP00000356016:C1708S	ENSP00000356016:C1708S	C	+	2	0	CR1	205820488	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.993000	0.56987	2.263000	0.75096	0.655000	0.94253	TGT		0.433	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		65	134	0	0	0	1	0	65	134				
TOPORS	10210	broad.mit.edu	37	9	32541485	32541485	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32541485C>A	ENST00000360538.2	-	3	3154	c.3038G>T	c.(3037-3039)aGt>aTt	p.S1013I	TOPORS_ENST00000379858.1_Missense_Mutation_p.S948I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1013					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACAATGTTACTGGGCTGGTT	0.418																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3037-3039)aGt>aTt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							126.0	123.0	124.0					9																	32541485		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541485C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3038G>T	9.37:g.32541485C>A	ENSP00000353735:p.Ser1013Ile					TOPORS_ENST00000379858.1_Missense_Mutation_p.S948I	p.S1013I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3154	-			1013					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3038G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486446	0.04352	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.14766	2.48;2.49	5.61	0.368	0.16146	.	0.881112	0.09870	N	0.745097	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36016	-0.9765	10	0.66056	D	0.02	-0.0065	4.5453	0.12078	0.2576:0.5146:0.0:0.2279	.	1013	Q9NS56	TOPRS_HUMAN	I	1013;948	ENSP00000353735:S1013I;ENSP00000369187:S948I	ENSP00000353735:S1013I	S	-	2	0	TOPORS	32531485	0.000000	0.05858	0.064000	0.19789	0.045000	0.14185	-0.080000	0.11339	0.085000	0.17107	-0.145000	0.13849	AGT		0.418	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		9	115	1	0	0.00448238	1	0.00472561	9	115				
EIF4G3	8672	broad.mit.edu	37	1	21191064	21191064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21191064C>T	ENST00000264211.8	-	16	2937	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	EIF4G3_ENST00000400422.1_Missense_Mutation_p.V915M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.V921M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V921M|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V519M|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V405M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.V635M	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	915	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCAGCTTCACCACACAGTCA	0.458																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2761-2763)Gtg>Atg		eukaryotic translation initiation factor 4 gamma, 3							181.0	169.0	173.0					1																	21191064		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21191064C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2743G>A	1.37:g.21191064C>T	ENSP00000264211:p.Val915Met					EIF4G3_ENST00000374937.3_Missense_Mutation_p.V921M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V915M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V915M|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V405M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.V635M|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V519M	p.V921M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	20	3344	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	915			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2761G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573641	0.86542	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.41	5.41	0.78517	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.54965	1.715	0.80722	D	1	D;D;P;D;P	0.89917	1.0;0.97;0.926;1.0;0.636	D;P;P;D;B	0.97110	1.0;0.823;0.771;0.999;0.439	T	0.37197	-0.9716	10	0.48119	T	0.1	-12.4488	19.2046	0.93724	0.0:1.0:0.0:0.0	.	1110;635;519;921;915	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	M	915;1111;915;635;405;921;519	ENSP00000264211:V915M;ENSP00000383274:V915M;ENSP00000364071:V635M;ENSP00000442010:V405M;ENSP00000364073:V921M;ENSP00000444693:V519M	ENSP00000264211:V915M	V	-	1	0	EIF4G3	21063651	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.548000	0.85928	0.585000	0.79938	GTG		0.458	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		14	146	0	0	0	1	0	14	146				
EEA1	8411	broad.mit.edu	37	12	93258692	93258692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93258692A>G	ENST00000322349.8	-	3	453	c.189T>C	c.(187-189)gtT>gtC	p.V63V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	63					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAGCATCATGAACAGCTTCAT	0.373																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(187-189)gtT>gtC		early endosome antigen 1							108.0	99.0	102.0					12																	93258692		2203	4300	6503	SO:0001819	synonymous_variant	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93258692A>G	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.189T>C	12.37:g.93258692A>G						EEA1_ENST00000547833.1_5'UTR	p.V63V	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			3	453	-			63					Q14221	Silent	SNP	ENST00000322349.8	37	c.189T>C	CCDS31874.1																																																																																				0.373	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		6	81	0	0	0	1	0	6	81				
OLFM2	93145	broad.mit.edu	37	19	9964942	9964942	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9964942G>T	ENST00000264833.4	-	6	1470	c.1285C>A	c.(1285-1287)Ctc>Atc	p.L429I	OLFM2_ENST00000590841.1_Missense_Mutation_p.L351I|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	429	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CAGGTATAGAGGGCGCGCTCC	0.567																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1285-1287)Ctc>Atc		olfactomedin 2							96.0	86.0	90.0					19																	9964942		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9964942G>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1285C>A	19.37:g.9964942G>T	ENSP00000264833:p.Leu429Ile					OLFM2_ENST00000590841.1_Missense_Mutation_p.L351I	p.L429I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1470	-			429			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1285C>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421975	0.62622	.	.	ENSG00000105088	ENST00000264833	D	0.95238	-3.65	4.3	4.3	0.51218	Olfactomedin-like (3);	0.000000	0.64402	D	0.000003	D	0.96436	0.8837	M	0.81341	2.54	0.52501	D	0.999959	D	0.89917	1.0	D	0.83275	0.996	D	0.95772	0.8809	9	.	.	.	.	7.997	0.30273	0.1098:0.0:0.8902:0.0	.	429	O95897	NOE2_HUMAN	I	429	ENSP00000264833:L429I	.	L	-	1	0	OLFM2	9825942	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	6.348000	0.73009	2.204000	0.70986	0.561000	0.74099	CTC		0.567	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			6	58	1	0	2.0095e-06	1	2.31757e-06	6	58				
CALD1	800	broad.mit.edu	37	7	134644788	134644788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134644788G>A	ENST00000361675.2	+	12	2354	c.2125G>A	c.(2125-2127)Gta>Ata	p.V709I	CALD1_ENST00000495522.1_Missense_Mutation_p.V473I|CALD1_ENST00000361388.2_Missense_Mutation_p.V480I|CALD1_ENST00000424922.1_Missense_Mutation_p.V448I|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361901.2_Missense_Mutation_p.V454I|CALD1_ENST00000393118.2_Missense_Mutation_p.V474I|CALD1_ENST00000543443.1_Missense_Mutation_p.V459I|CALD1_ENST00000422748.1_Missense_Mutation_p.V479I|CALD1_ENST00000417172.1_Missense_Mutation_p.V454I			Q05682	CALD1_HUMAN	caldesmon 1	709					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAAGGTGTACGCAACAT	0.458																																						ENST00000361388.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1438-1440)Gta>Ata		caldesmon 1							125.0	107.0	113.0					7																	134644788		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134644788G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2125G>A	7.37:g.134644788G>A	ENSP00000354826:p.Val709Ile					CALD1_ENST00000361675.2_Missense_Mutation_p.V709I|CALD1_ENST00000393118.2_Missense_Mutation_p.V474I|CALD1_ENST00000422748.1_Missense_Mutation_p.V479I|CALD1_ENST00000543443.1_Missense_Mutation_p.V459I|CALD1_ENST00000495522.1_Missense_Mutation_p.V473I|CALD1_ENST00000417172.1_Missense_Mutation_p.V454I|CALD1_ENST00000361901.2_Missense_Mutation_p.V454I|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.V448I	p.V480I	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN			12	1904	+			709					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1438G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207049	0.22205	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.74	5.74	0.90152	.	0.000000	0.46758	D	0.000261	T	0.74427	0.3715	M	0.78637	2.42	0.27525	N	0.95128	P;P;P;P;P;P;B;P;P;D	0.64830	0.587;0.532;0.587;0.587;0.532;0.532;0.274;0.532;0.485;0.994	P;B;P;P;B;B;B;B;P;D	0.76071	0.479;0.348;0.479;0.479;0.259;0.259;0.259;0.348;0.63;0.987	T	0.67821	-0.5571	10	0.39692	T	0.17	-22.0058	19.9145	0.97053	0.0:0.0:1.0:0.0	.	403;459;479;473;448;474;454;480;709;454	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	I	454;454;480;479;87;709;454;474;448;473;459	ENSP00000398826:V454I;ENSP00000411476:V454I;ENSP00000355000:V480I;ENSP00000395710:V479I;ENSP00000354826:V709I;ENSP00000354513:V454I;ENSP00000376826:V474I;ENSP00000393621:V448I;ENSP00000419673:V473I;ENSP00000445641:V459I	ENSP00000355000:V480I	V	+	1	0	CALD1	134295328	1.000000	0.71417	0.090000	0.20809	0.015000	0.08874	3.763000	0.55257	2.709000	0.92574	0.655000	0.94253	GTA		0.458	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		7	78	0	0	0	1	0	7	78				
SHKBP1	92799	broad.mit.edu	37	19	41086793	41086793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41086793C>T	ENST00000291842.5	+	9	844	c.795C>T	c.(793-795)agC>agT	p.S265S	SHKBP1_ENST00000600733.1_Silent_p.S265S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	265					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCGGCAGCGAGATCCTGC	0.607																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(793-795)agC>agT		SH3KBP1 binding protein 1							60.0	68.0	66.0					19																	41086793		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086793C>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.795C>T	19.37:g.41086793C>T						SHKBP1_ENST00000600733.1_Silent_p.S265S	p.S265S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		9	844	+			265					Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.795C>T	CCDS12560.1																																																																																				0.607	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		27	52	0	0	0	1	0	27	52				
LIMD2	80774	broad.mit.edu	37	17	61776415	61776415	+	Silent	SNP	G	G	A	rs192964077		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61776415G>A	ENST00000259006.3	-	3	215	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LIMD2_ENST00000578993.1_Silent_p.G19G|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.G19G|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578402.1_Silent_p.G19G	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						TGCTGCTGCCGCCGCCTTTGG	0.736																																						ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(55-57)ggC>ggT		LIM domain containing 2							9.0	11.0	11.0					17																	61776415		2134	4203	6337	SO:0001819	synonymous_variant	80774						zinc ion binding	g.chr17:61776415G>A	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.57C>T	17.37:g.61776415G>A						LIMD2_ENST00000578402.1_Silent_p.G19G|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.G19G|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Silent_p.G19G	p.G19G	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			3	215	-			19					D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	c.57C>T	CCDS11641.1																																																																																				0.736	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		10	8	0	0	0	1	0	10	8				
USH2A	7399	broad.mit.edu	37	1	216052354	216052354	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216052354A>G	ENST00000307340.3	-	42	8696	c.8310T>C	c.(8308-8310)aaT>aaC	p.N2770N	USH2A_ENST00000366943.2_Silent_p.N2770N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2770	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGAAGTCACATTGGTTAAAG	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8308-8310)aaT>aaC		Usher syndrome 2A (autosomal recessive, mild)							165.0	162.0	163.0					1																	216052354		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052354A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8310T>C	1.37:g.216052354A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N2770N	p.N2770N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8696	-			2770			Fibronectin type-III 14.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8310T>C	CCDS31025.1																																																																																				0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	139	0	0	0	1	0	11	139				
ZFAT	57623	broad.mit.edu	37	8	135649810	135649810	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135649810G>A	ENST00000377838.3	-	3	516	c.342C>T	c.(340-342)agC>agT	p.S114S	ZFAT_ENST00000429442.2_Silent_p.S102S|ZFAT_ENST00000520214.1_Silent_p.S102S|ZFAT_ENST00000523399.1_Silent_p.S114S|ZFAT_ENST00000520727.1_Silent_p.S102S|ZFAT_ENST00000520356.1_Silent_p.S102S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	114					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACTCCAAGCTGCTTGGAGGCA	0.572																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(304-306)agC>agT		zinc finger and AT hook domain containing							82.0	88.0	86.0					8																	135649810		2177	4272	6449	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649810G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.342C>T	8.37:g.135649810G>A						ZFAT_ENST00000377838.3_Silent_p.S114S|ZFAT_ENST00000520356.1_Silent_p.S102S|ZFAT_ENST00000520214.1_Silent_p.S102S|ZFAT_ENST00000523399.1_Silent_p.S114S|ZFAT_ENST00000429442.2_Silent_p.S102S	p.S102S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	605	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		114		P -> S (in dbSNP:rs12541381).			B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.306C>T	CCDS47924.1																																																																																				0.572	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		16	31	0	0	0	1	0	16	31				
MORN5	254956	broad.mit.edu	37	9	124936902	124936902	+	Silent	SNP	C	C	T	rs536933863		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124936902C>T	ENST00000373764.3	+	4	497	c.435C>T	c.(433-435)aaC>aaT	p.N145N	MORN5_ENST00000536616.1_Silent_p.N145N|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	145								p.N145N(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTCTAAGAAACGCAGGTAGGT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20892	0.0		0.0	False		,,,				2504	0.0					ENST00000536616.1																			1	Substitution - coding silent(1)	p.N145N(1)	endometrium(1)	endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(433-435)aaC>aaT		MORN repeat containing 5							99.0	90.0	93.0					9																	124936902		2203	4300	6503	SO:0001819	synonymous_variant	254956							g.chr9:124936902C>T	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.435C>T	9.37:g.124936902C>T						MORN5_ENST00000373764.3_Silent_p.N145N|MORN5_ENST00000486801.1_3'UTR	p.N145N			Q5VZ52	MORN5_HUMAN			4	473	+			145					B7Z7I5|Q6ZQN1	Silent	SNP	ENST00000373764.3	37	c.435C>T	CCDS6836.1																																																																																				0.448	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		32	38	0	0	0	1	0	32	38				
ZNF234	10780	broad.mit.edu	37	19	44661185	44661185	+	Missense_Mutation	SNP	C	C	T	rs553176325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661185C>T	ENST00000426739.2	+	6	1274	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	ZNF234_ENST00000592437.1_Missense_Mutation_p.T339I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGGTCCACACAGGAGAGAAA	0.448																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1015-1017)aCa>aTa		zinc finger protein 234							64.0	71.0	68.0					19																	44661185		2177	4293	6470	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661185C>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1016C>T	19.37:g.44661185C>T	ENSP00000400878:p.Thr339Ile					ZNF234_ENST00000592437.1_Missense_Mutation_p.T339I	p.T339I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1274	+		Prostate(69;0.0435)	339					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1016C>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.002983	0.54254	.	.	ENSG00000167380	ENST00000426739	T	0.25749	1.78	4.12	0.453	0.16639	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48768	0.1518	M	0.82433	2.59	0.23700	N	0.997074	D	0.76494	0.999	D	0.70227	0.968	T	0.28586	-1.0039	9	0.72032	D	0.01	.	8.9881	0.36005	0.0:0.6373:0.2767:0.0859	.	339	Q14588	ZN234_HUMAN	I	339	ENSP00000400878:T339I	ENSP00000400878:T339I	T	+	2	0	ZNF226	49353025	0.703000	0.27826	0.226000	0.23910	0.859000	0.49053	1.388000	0.34442	0.484000	0.27630	0.591000	0.81541	ACA		0.448	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			7	46	0	0	0	1	0	7	46				
DST	667	broad.mit.edu	37	6	56374448	56374448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374448G>T	ENST00000361203.3	-	69	18051	c.18044C>A	c.(18043-18045)tCt>tAt	p.S6015Y	DST_ENST00000244364.6_Missense_Mutation_p.S3712Y|DST_ENST00000370769.4_Missense_Mutation_p.S6126Y|DST_ENST00000446842.2_Missense_Mutation_p.S5800Y|DST_ENST00000421834.2_Missense_Mutation_p.S4038Y|DST_ENST00000370788.2_Missense_Mutation_p.S3929Y|DST_ENST00000370754.5_Missense_Mutation_p.S6304Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6011					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTTGGCAGATATGTCTTT	0.393																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18910-18912)tCt>tAt		dystonin							90.0	83.0	85.0					6																	56374448		1833	4086	5919	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56374448G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18044C>A	6.37:g.56374448G>T	ENSP00000354508:p.Ser6015Tyr					DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.S6126Y|DST_ENST00000421834.2_Missense_Mutation_p.S4038Y|DST_ENST00000370788.2_Missense_Mutation_p.S3929Y|DST_ENST00000244364.6_Missense_Mutation_p.S3712Y|DST_ENST00000361203.3_Missense_Mutation_p.S6015Y|DST_ENST00000446842.2_Missense_Mutation_p.S5800Y|DST_ENST00000340834.4_5'UTR	p.S6304Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		74	18910	-	Lung NSC(77;0.103)		6124					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.18911C>A		.	.	.	.	.	.	.	.	.	.	G	17.45	3.391924	0.62066	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.52057	1.31;1.31;1.31;1.31;1.31;1.31;0.68	5.76	5.76	0.90799	.	0.000000	0.49916	D	0.000134	T	0.61400	0.2344	L	0.53249	1.67	0.34043	D	0.655195	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.979	D;D;D;D;P	0.91635	0.999;0.997;0.987;0.977;0.896	T	0.62267	-0.6890	9	0.72032	D	0.01	.	19.9601	0.97247	0.0:0.0:1.0:0.0	.	4038;6126;6304;6124;3712	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Y	3712;6304;6126;4038;5800;3929;6015;128	ENSP00000244364:S3712Y;ENSP00000359790:S6304Y;ENSP00000359805:S6126Y;ENSP00000400883:S4038Y;ENSP00000393645:S5800Y;ENSP00000359824:S3929Y;ENSP00000354508:S6015Y	ENSP00000244364:S3712Y	S	-	2	0	DST	56482407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.720000	0.93068	0.655000	0.94253	TCT		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	19	1	0	2.5808e-16	1	3.33049e-16	15	19				
NOX3	50508	broad.mit.edu	37	6	155732473	155732473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155732473G>A	ENST00000159060.2	-	11	1432	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	444					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTTGCATCCCGGCAAATCCAG	0.413																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1330-1332)Cgg>Tgg		NADPH oxidase 3							58.0	53.0	54.0					6																	155732473		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155732473G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1330C>T	6.37:g.155732473G>A	ENSP00000159060:p.Arg444Trp						p.R444W	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	11	1432	-		Breast(66;0.0183)	444					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1330C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821358	0.71028	.	.	ENSG00000074771	ENST00000159060	D	0.97575	-4.44	5.83	3.86	0.44501	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000012	D	0.98836	0.9607	H	0.95745	3.715	0.42872	D	0.994144	D	0.89917	1.0	D	0.97110	1.0	D	0.99869	1.1094	10	0.87932	D	0	-28.0901	16.5446	0.84426	0.0:0.0:0.7509:0.2491	.	444	Q9HBY0	NOX3_HUMAN	W	444	ENSP00000159060:R444W	ENSP00000159060:R444W	R	-	1	2	NOX3	155774165	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.254000	0.51477	1.464000	0.47987	0.655000	0.94253	CGG		0.413	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			20	27	0	0	0	1	0	20	27				
KIAA1549	57670	broad.mit.edu	37	7	138603183	138603183	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603183A>G	ENST00000422774.1	-	2	1237	c.1189T>C	c.(1189-1191)Tca>Cca	p.S397P	KIAA1549_ENST00000440172.1_Missense_Mutation_p.S397P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S347P			Q9HCM3	K1549_HUMAN	KIAA1549	397						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAGGGCTGAATTGCTATGC	0.522			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1189-1191)Tca>Cca		KIAA1549							97.0	98.0	98.0					7																	138603183		2023	4187	6210	SO:0001583	missense	57670					integral to membrane		g.chr7:138603183A>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1189T>C	7.37:g.138603183A>G	ENSP00000416040:p.Ser397Pro					KIAA1549_ENST00000422774.1_Missense_Mutation_p.S397P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S347P	p.S397P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1237	-			397					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1189T>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805294	0.31961	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.34072	1.38;1.4;1.39	4.84	-0.579	0.11720	.	0.571953	0.14722	N	0.302291	T	0.20861	0.0502	L	0.27053	0.805	0.09310	N	1	B;B	0.16802	0.011;0.019	B;B	0.18561	0.01;0.022	T	0.14671	-1.0464	10	0.45353	T	0.12	.	4.941	0.13965	0.5426:0.2973:0.16:0.0	.	397;397	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	397;347;397	ENSP00000406661:S397P;ENSP00000242365:S347P;ENSP00000416040:S397P	ENSP00000242365:S347P	S	-	1	0	KIAA1549	138253723	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.002000	0.13061	-0.230000	0.09840	0.528000	0.53228	TCA		0.522	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			6	90	0	0	0	1	0	6	90				
RNF103	7844	broad.mit.edu	37	2	86831491	86831491	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86831491G>A	ENST00000237455.4	-	4	2501	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	511					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACATTGGTAAGTTTTTAATAT	0.433																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1531-1533)aaC>aaT		ring finger protein 103							116.0	123.0	120.0					2																	86831491		2203	4300	6503	SO:0001819	synonymous_variant	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831491G>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1533C>T	2.37:g.86831491G>A						AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA	p.N511N	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2501	-			511					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Silent	SNP	ENST00000237455.4	37	c.1533C>T	CCDS33237.1																																																																																				0.433	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		75	103	0	0	0	1	0	75	103				
PTPRD	5789	broad.mit.edu	37	9	8501014	8501014	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8501014G>A	ENST00000381196.4	-	21	2411	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	623	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S623F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATACTAGTGGAACTTGGGCT	0.443										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.S623F(1)	skin(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1867-1869)tCc>tTc		protein tyrosine phosphatase, receptor type, D							120.0	111.0	114.0					9																	8501014		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8501014G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1868C>T	9.37:g.8501014G>A	ENSP00000370593:p.Ser623Phe	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron	p.S623F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	21	2411	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	623			Fibronectin type-III 4.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1868C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067909	0.76301	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112738	0.64402	D	0.000006	D	0.84220	0.5424	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;D;D	0.77004	0.988;0.913;0.989	D	0.88317	0.2960	9	.	.	.	.	19.9574	0.97228	0.0:0.0:1.0:0.0	.	610;623;623	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	F	623;623;610;610;623	ENSP00000370593:S623F;ENSP00000348812:S623F;ENSP00000353187:S610F;ENSP00000351293:S610F;ENSP00000438164:S623F	.	S	-	2	0	PTPRD	8491014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.715000	0.92844	0.561000	0.74099	TCC		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			24	21	0	0	0	1	0	24	21				
SECISBP2	79048	broad.mit.edu	37	9	91963028	91963028	+	Missense_Mutation	SNP	G	G	A	rs368010037		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91963028G>A	ENST00000375807.3	+	12	1708	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R478H|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R473H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	546					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAAAGCAGCGTCTCCAAGAA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20972	0.0		0.0	False		,,,				2504	0.001					ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1636-1638)cGt>cAt		SECIS binding protein 2		G	HIS/ARG	0,4406		0,0,2203	104.0	100.0	102.0		1637	3.8	1.0	9		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	SECISBP2	NM_024077.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	546/855	91963028	1,13005	2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91963028G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1637G>A	9.37:g.91963028G>A	ENSP00000364965:p.Arg546His					SECISBP2_ENST00000339901.4_Missense_Mutation_p.R473H|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R478H	p.R546H	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			12	1708	+			546					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1637G>A	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638273	0.47153	0.0	1.16E-4	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.74209	-0.82;-0.82;-0.82	4.7	3.79	0.43588	.	0.116409	0.64402	D	0.000012	T	0.60560	0.2278	L	0.48362	1.52	0.33874	D	0.63537	B;P;B	0.37233	0.167;0.588;0.167	B;B;B	0.29524	0.013;0.103;0.013	T	0.71328	-0.4626	10	0.46703	T	0.11	-12.8861	8.0711	0.30689	0.107:0.0:0.893:0.0	.	553;473;546	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	H	546;552;473;478	ENSP00000364965:R546H;ENSP00000364959:R473H;ENSP00000436650:R478H	ENSP00000364959:R473H	R	+	2	0	SECISBP2	91152848	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.697000	0.47060	2.600000	0.87896	0.561000	0.74099	CGT		0.393	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		21	39	0	0	0	1	0	21	39				
KRT17	3872	broad.mit.edu	37	17	39777845	39777845	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39777845C>A	ENST00000311208.8	-	4	901	c.834G>T	c.(832-834)aaG>aaT	p.K278N	JUP_ENST00000540235.1_Splice_Site_p.K437N	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	278	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CACCCCCCACCTTGCTGAAGA	0.607																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.e7+1		junction plakoglobin							80.0	78.0	79.0					17																	39777845		2203	4300	6503	SO:0001630	splice_region_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39777845C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.834+1G>T	17.37:g.39777845C>A						KRT17_ENST00000311208.8_Splice_Site_p.K278_splice	p.K437_splice			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	7	1310	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Splice_Site	SNP	ENST00000311208.8	37	c.1311_splice	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074799	0.76415	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	T;T	0.79940	-1.32;-1.32	3.69	2.71	0.32032	Prefoldin (1);Filament (1);	0.000000	0.49305	D	0.000146	D	0.92655	0.7666	H	0.98295	4.195	0.34998	D	0.755659	D	0.71674	0.998	D	0.70487	0.969	D	0.95512	0.8587	9	.	.	.	.	11.4089	0.49915	0.0:0.9105:0.0:0.0895	.	278	Q04695	K1C17_HUMAN	N	278;437	ENSP00000308452:K278N;ENSP00000441751:K437N	.	K	-	3	2	JUP;KRT17	37031371	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	7.344000	0.79328	0.903000	0.36546	0.561000	0.74099	AAG		0.607	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	Missense_Mutation	5	64	1	0	1	1	1	5	64				
CYP20A1	57404	broad.mit.edu	37	2	204143395	204143395	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204143395A>G	ENST00000356079.4	+	7	902	c.779A>G	c.(778-780)aAc>aGc	p.N260S	CYP20A1_ENST00000429815.2_Missense_Mutation_p.N268S|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	260						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GTACAAGGGAACCTTAATGAC	0.388																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(778-780)aAc>aGc		cytochrome P450, family 20, subfamily A, polypeptide 1							69.0	62.0	65.0					2																	204143395		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204143395A>G	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.779A>G	2.37:g.204143395A>G	ENSP00000348380:p.Asn260Ser					CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.N268S	p.N260S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			7	902	+			260					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.779A>G	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835527	0.32421	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.66815	-0.23;-0.23	5.42	5.42	0.78866	.	0.191041	0.53938	D	0.000043	T	0.63546	0.2520	L	0.59436	1.845	0.39152	D	0.962245	B;B	0.06786	0.0;0.001	B;B	0.12156	0.003;0.007	T	0.61461	-0.7058	10	0.31617	T	0.26	-2.6484	15.1576	0.72755	1.0:0.0:0.0:0.0	.	268;260	E9PHG5;Q6UW02	.;CP20A_HUMAN	S	260;233;268	ENSP00000348380:N260S;ENSP00000407860:N268S	ENSP00000348380:N260S	N	+	2	0	CYP20A1	203851640	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	3.934000	0.56553	2.058000	0.61347	0.533000	0.62120	AAC		0.388	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		16	26	0	0	0	1	0	16	26				
CNTNAP2	26047	broad.mit.edu	37	7	148080782	148080782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148080782C>A	ENST00000361727.3	+	22	4033	c.3517C>A	c.(3517-3519)Cca>Aca	p.P1173T	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P232T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1173	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATACAACACCCCAGGATTCAC	0.468										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3517-3519)Cca>Aca		contactin associated protein-like 2							69.0	68.0	68.0					7																	148080782		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148080782C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3517C>A	7.37:g.148080782C>A	ENSP00000354778:p.Pro1173Thr	HNSCC(39;0.1)				CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P232T	p.P1173T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		22	4033	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1173			Laminin G-like 4.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3517C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882445	0.72294	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.77229	-1.08;-1.08	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.85999	0.5828	M	0.78637	2.42	0.58432	D	0.999999	D	0.55172	0.97	P	0.58013	0.831	T	0.81820	-0.0757	10	0.20046	T	0.44	.	19.2374	0.93866	0.0:1.0:0.0:0.0	.	1173	Q9UHC6	CNTP2_HUMAN	T	1173;232	ENSP00000354778:P1173T;ENSP00000440732:P232T	ENSP00000354778:P1173T	P	+	1	0	CNTNAP2	147711715	1.000000	0.71417	0.780000	0.31762	0.993000	0.82548	7.608000	0.82898	2.885000	0.99019	0.655000	0.94253	CCA		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			28	60	1	0	9.39395e-14	1	1.19386e-13	28	60				
ZNF443	10224	broad.mit.edu	37	19	12542575	12542575	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12542575T>C	ENST00000301547.5	-	4	608	c.411A>G	c.(409-411)ggA>ggG	p.G137G	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	137					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGGCTTCTCTCCACATTCAT	0.418																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(409-411)ggA>ggG		zinc finger protein 443							158.0	142.0	148.0					19																	12542575		2203	4300	6503	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542575T>C	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.411A>G	19.37:g.12542575T>C						CTD-3105H18.16_ENST00000595562.1_Intron	p.G137G	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	608	-			137						Silent	SNP	ENST00000301547.5	37	c.411A>G	CCDS32918.1																																																																																				0.418	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		8	81	0	0	0	1	0	8	81				
RNF122	79845	broad.mit.edu	37	8	33406360	33406360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33406360G>A	ENST00000256257.1	-	6	780	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	127						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R127C(1)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CAGACACAGCGAACTTCCAGC	0.498																																						ENST00000256257.1																			1	Substitution - Missense(1)	p.R127C(1)	large_intestine(1)	endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(379-381)Cgc>Tgc		ring finger protein 122							206.0	186.0	193.0					8																	33406360		2203	4300	6503	SO:0001583	missense	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33406360G>A	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.379C>T	8.37:g.33406360G>A	ENSP00000256257:p.Arg127Cys						p.R127C	NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	6	780	-			127					Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	c.379C>T	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599117	0.87055	.	.	ENSG00000133874	ENST00000256257	T	0.45276	0.9	5.61	4.74	0.60224	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60500	-0.7251	10	0.87932	D	0	-31.5463	12.5446	0.56193	0.0776:0.0:0.9224:0.0	.	127	Q9H9V4	RN122_HUMAN	C	127	ENSP00000256257:R127C	ENSP00000256257:R127C	R	-	1	0	RNF122	33525902	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	8.901000	0.92560	1.372000	0.46190	0.655000	0.94253	CGC		0.498	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		54	55	0	0	0	1	0	54	55				
DDX10	1662	broad.mit.edu	37	11	108594046	108594046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108594046C>T	ENST00000322536.3	+	13	1951	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	DDX10_ENST00000526794.1_Missense_Mutation_p.P608S	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	608					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCCATCTCTTCCTAACACCAG	0.433			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		1	Deletion - In frame(1)	p.E594_E618del(1)	breast(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1822-1824)Cct>Tct		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							94.0	92.0	92.0					11																	108594046		2201	4297	6498	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108594046C>T	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1822C>T	11.37:g.108594046C>T	ENSP00000314348:p.Pro608Ser					DDX10_ENST00000322536.3_Missense_Mutation_p.P608S	p.P608S			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	13	1854	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	608					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1822C>T	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	C	5.985	0.365684	0.11352	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.39229	1.09;1.09	3.56	-2.02	0.07388	.	1.062980	0.07310	N	0.875735	T	0.23210	0.0561	L	0.29908	0.895	0.09310	N	1	B;B	0.19445	0.036;0.0	B;B	0.14578	0.011;0.001	T	0.24476	-1.0159	10	0.09084	T	0.74	0.5419	4.1299	0.10144	0.0:0.3619:0.1801:0.458	.	608;608	Q13206;E9PIF2	DDX10_HUMAN;.	S	608;514;608	ENSP00000314348:P608S;ENSP00000432032:P608S	ENSP00000314348:P608S	P	+	1	0	DDX10	108099256	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	-0.591000	0.05753	-0.265000	0.09352	0.484000	0.47621	CCT		0.433	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		22	22	0	0	0	1	0	22	22				
WDR63	126820	broad.mit.edu	37	1	85592238	85592238	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85592238C>A	ENST00000294664.6	+	20	2337	c.2157C>A	c.(2155-2157)acC>acA	p.T719T	WDR63_ENST00000370596.1_Silent_p.T680T|WDR63_ENST00000326813.8_Silent_p.T680T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	719										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGGTACACCTCAGGCCACT	0.443																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2155-2157)acC>acA		WD repeat domain 63							49.0	49.0	49.0					1																	85592238		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85592238C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2157C>A	1.37:g.85592238C>A						WDR63_ENST00000370596.1_Silent_p.T680T|WDR63_ENST00000326813.8_Silent_p.T680T	p.T719T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	20	2337	+			719					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.2157C>A	CCDS702.1																																																																																				0.443	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		4	58	1	0	0.00909568	1	0.00947522	4	58				
DSP	1832	broad.mit.edu	37	6	7569487	7569487	+	Silent	SNP	G	G	A	rs35820473	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7569487G>A	ENST00000379802.3	+	12	1829	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	DSP_ENST00000418664.2_Silent_p.T496T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGTACGTGACGGGCCCGGGAG	0.557													G|||	12	0.00239617	0.0083	0.0014	5008	,	,		14112	0.0		0.0	False		,,,				2504	0.0					ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1486-1488)acG>acA		desmoplakin		G	,	16,4390	23.3+/-48.9	0,16,2187	166.0	133.0	144.0		1488,1488	-11.1	0.0	6	dbSNP_126	144	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	0,28,6475	AA,AG,GG		0.1395,0.3631,0.2153	,	496/2273,496/2872	7569487	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569487G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1488G>A	6.37:g.7569487G>A						DSP_ENST00000418664.2_Silent_p.T496T	p.T496T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1829	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	496			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1488G>A	CCDS4501.1																																																																																				0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		28	43	0	0	0	1	0	28	43				
RBMXL1	494115	broad.mit.edu	37	1	89448746	89448746	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448746T>C	ENST00000321792.5	-	2	1191	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y255C	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	255					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TCTTGATGGATAGTCATCACG	0.428																																						ENST00000399794.2																			0											c.(763-765)tAt>tGt		RNA binding motif protein, X-linked-like 1							197.0	172.0	181.0					1																	89448746		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448746T>C	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.764A>G	1.37:g.89448746T>C	ENSP00000318415:p.Tyr255Cys					CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y255C|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	p.Y255C	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1479	-			255						Missense_Mutation	SNP	ENST00000321792.5	37	c.764A>G	CCDS716.1	.	.	.	.	.	.	.	.	.	.	T	4.106	0.017788	0.07959	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76578	-1.03;-1.03	1.76	0.554	0.17241	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.31804	0.96	0.28629	N	0.907741	B	0.17038	0.02	B	0.14023	0.01	T	0.20338	-1.0278	10	0.25106	T	0.35	.	4.6208	0.12449	0.0:0.1941:0.0:0.8059	.	255	Q96E39	RBMXL_HUMAN	C	255	ENSP00000318415:Y255C;ENSP00000446099:Y255C	ENSP00000318415:Y255C	Y	-	2	0	RBMXL1	89221334	1.000000	0.71417	0.914000	0.36105	0.631000	0.37964	5.062000	0.64326	0.002000	0.14630	0.254000	0.18369	TAT		0.428	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		8	202	0	0	0	1	0	8	202				
HEATR6	63897	broad.mit.edu	37	17	58125691	58125691	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58125691G>T	ENST00000184956.6	-	17	2622	c.2606C>A	c.(2605-2607)tCt>tAt	p.S869Y	HEATR6_ENST00000585976.1_Missense_Mutation_p.S757Y	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	869							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AACATTCAGAGACTTGTCTTC	0.453																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(2605-2607)tCt>tAt		HEAT repeat containing 6							148.0	104.0	119.0					17																	58125691		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58125691G>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2606C>A	17.37:g.58125691G>T	ENSP00000184956:p.Ser869Tyr					HEATR6_ENST00000585976.1_Missense_Mutation_p.S757Y	p.S869Y	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		17	2622	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		869					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.2606C>A	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427977	0.83667	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67345	-0.26	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.049653	0.85682	D	0.000000	T	0.80711	0.4675	M	0.66939	2.045	0.34845	D	0.74107	D;D	0.71674	0.995;0.998	D;D	0.66602	0.945;0.923	D	0.85092	0.0952	10	0.87932	D	0	-15.5209	19.3079	0.94171	0.0:0.0:1.0:0.0	.	604;869	E7ESB9;Q6AI08	.;HEAT6_HUMAN	Y	869;604	ENSP00000184956:S869Y	ENSP00000184956:S869Y	S	-	2	0	HEATR6	55480473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.054000	0.71096	2.890000	0.99128	0.585000	0.79938	TCT		0.453	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		10	18	1	0	1.58986e-06	1	1.84011e-06	10	18				
SPEF2	79925	broad.mit.edu	37	5	35691272	35691272	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35691272C>A	ENST00000356031.3	+	11	1812	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SPEF2_ENST00000440995.2_Missense_Mutation_p.P553H|SPEF2_ENST00000509059.1_Missense_Mutation_p.P553H|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	553					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAACAACACCTGAATTACCT	0.388																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1657-1659)cCt>cAt		sperm flagellar 2							139.0	139.0	139.0					5																	35691272		1875	4098	5973	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691272C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1658C>A	5.37:g.35691272C>A	ENSP00000348314:p.Pro553His					SPEF2_ENST00000509059.1_Missense_Mutation_p.P553H|SPEF2_ENST00000356031.3_Missense_Mutation_p.P553H|CTD-2113L7.1_ENST00000510433.1_RNA	p.P553H			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1658	+	all_lung(31;7.56e-05)		553					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1658C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900356	0.33535	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.37235	3.12;2.99;3.11;1.21	5.6	4.74	0.60224	.	0.442827	0.24007	N	0.042408	T	0.45458	0.1343	M	0.66939	2.045	0.19575	N	0.999967	D;D;D	0.63880	0.988;0.993;0.988	P;P;P	0.53360	0.533;0.724;0.533	T	0.35822	-0.9773	10	0.31617	T	0.26	.	9.4524	0.38734	0.0:0.7792:0.1429:0.0779	.	553;553;553	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	H	553;553;553;64	ENSP00000348314:P553H;ENSP00000421593:P553H;ENSP00000412125:P553H;ENSP00000421744:P64H	ENSP00000348314:P553H	P	+	2	0	SPEF2	35727029	0.380000	0.25131	0.117000	0.21633	0.132000	0.20833	2.372000	0.44257	1.359000	0.45940	0.585000	0.79938	CCT		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		9	117	1	0	0.00448238	1	0.00472561	9	117				
NBPF14	25832	broad.mit.edu	37	1	148025802	148025802	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148025802C>A	ENST00000369219.1	-	1	46	c.30G>T	c.(28-30)gaG>gaT	p.E10D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	10						cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAAGCTTCTCCTCCTTGAACT	0.522																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(28-30)gaG>gaT		neuroblastoma breakpoint family, member 14							53.0	71.0	65.0					1																	148025802		1045	2317	3362	SO:0001583	missense	25832					cytoplasm		g.chr1:148025802C>A	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.30G>T	1.37:g.148025802C>A	ENSP00000358221:p.Glu10Asp						p.E10D			Q5TI25	NBPFE_HUMAN			1	46	-	all_hematologic(923;0.032)		10					Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.30G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.398|6.398	0.441569|0.441569	0.12164|0.12164	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219|ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	T|.	0.04119|.	3.7|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.13500|0.13500	0.0327|0.0327	L|L	0.43554|0.43554	1.36|1.36	0.09310|0.09310	N|N	1|1	P;P|.	0.49559|.	0.826;0.925|.	B;B|.	0.44224|.	0.344;0.444|.	T|T	0.31943|0.31943	-0.9925|-0.9925	7|3	0.56958|.	D|.	0.05|.	.|.	.|.	.|.	.|.	.|.	10;275|.	Q5TI25;Q5VTG7|.	NBPFE_HUMAN;.|.	D|M	10|16;21;21;21;21;21;21;21	ENSP00000358221:E10D|.	ENSP00000358221:E10D|.	E|R	-|-	3|2	2|0	NBPF14|NBPF14	146492426|146492426	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.175000|0.175000	0.22909|0.22909	-0.635000|-0.635000	0.05471|0.05471	-0.921000|-0.921000	0.03794|0.03794	0.064000|0.064000	0.15345|0.15345	GAG|AGG		0.522	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		10	290	1	0	0.000566183	1	0.000614449	10	290				
ABCA13	154664	broad.mit.edu	37	7	48280594	48280594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48280594C>T	ENST00000435803.1	+	10	1217	c.1193C>T	c.(1192-1194)aCt>aTt	p.T398I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	398					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTCTGCACACTGCACTGCTC	0.473																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1192-1194)aCt>aTt		ATP-binding cassette, sub-family A (ABC1), member 13							154.0	154.0	154.0					7																	48280594		2061	4207	6268	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48280594C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1193C>T	7.37:g.48280594C>T	ENSP00000411096:p.Thr398Ile						p.T398I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			10	1217	+			398					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1193C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448856	0.26074	.	.	ENSG00000179869	ENST00000435803	D	0.86865	-2.18	5.36	2.12	0.27331	.	0.925819	0.09027	N	0.859376	T	0.77980	0.4212	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.67241	-0.5720	10	0.87932	D	0	.	7.6716	0.28462	0.0:0.6881:0.0:0.3119	.	398	Q86UQ4	ABCAD_HUMAN	I	398	ENSP00000411096:T398I	ENSP00000411096:T398I	T	+	2	0	ABCA13	48251140	0.000000	0.05858	0.000000	0.03702	0.349000	0.29174	0.178000	0.16820	0.650000	0.30769	0.655000	0.94253	ACT		0.473	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		31	115	0	0	0	1	0	31	115				
SSPO	23145	broad.mit.edu	37	7	149481158	149481158	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149481158C>T	ENST00000378016.2	+	0	2640							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCTTGTGCCCCTGCCAGC	0.642																																						ENST00000378016.2																			0													SCO-spondin							27.0	33.0	31.0					7																	149481158		1997	4155	6152			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149481158C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481158C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2640	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	10	0	0	0	1	0	3	10				
PMFBP1	83449	broad.mit.edu	37	16	72162984	72162984	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72162984A>C	ENST00000237353.10	-	13	2192	c.1931T>G	c.(1930-1932)tTt>tGt	p.F644C	PMFBP1_ENST00000355636.6_Missense_Mutation_p.F499C|PMFBP1_ENST00000537465.1_Missense_Mutation_p.F649C	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	649						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTCTTTTTAAATTCCTGCCG	0.542																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1945-1947)tTt>tGt		polyamine modulated factor 1 binding protein 1							169.0	172.0	171.0					16																	72162984		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72162984A>C	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1931T>G	16.37:g.72162984A>C	ENSP00000237353:p.Phe644Cys					PMFBP1_ENST00000237353.10_Missense_Mutation_p.F644C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.F499C	p.F649C			Q8TBY8	PMFBP_HUMAN			13	2104	-		Ovarian(137;0.179)	649					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1946T>G	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.171391	0.01660	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.11604	2.76;2.76;2.76	4.55	-9.1	0.00714	.	3.349900	0.00725	N	0.000900	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	P;B;P	0.35793	0.521;0.369;0.521	B;B;B	0.35073	0.195;0.195;0.195	T	0.09707	-1.0662	10	0.40728	T	0.16	19.8339	4.4908	0.11812	0.164:0.4233:0.2756:0.1372	.	649;644;649	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	C	649;644;499	ENSP00000443817:F649C;ENSP00000237353:F644C;ENSP00000347854:F499C	ENSP00000237353:F644C	F	-	2	0	PMFBP1	70720485	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.514000	0.00956	-4.551000	0.00043	-1.106000	0.02097	TTT		0.542	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		16	204	0	0	0	1	0	16	204				
CCDC13	152206	broad.mit.edu	37	3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42754752C>T	ENST00000310232.6	-	14	1858	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1774-1776)cGa>cAa		coiled-coil domain containing 13							113.0	104.0	107.0					3																	42754752		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42754752C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1775G>A	3.37:g.42754752C>T	ENSP00000309836:p.Arg592Gln						p.R592Q	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			14	1858	-			592						Missense_Mutation	SNP	ENST00000310232.6	37	c.1775G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980557	0.53827	.	.	ENSG00000244607	ENST00000310232	T	0.12465	2.68	5.26	5.26	0.73747	.	0.069979	0.56097	D	0.000033	T	0.21186	0.0510	M	0.76574	2.34	0.28465	N	0.915688	D	0.56287	0.975	P	0.47827	0.558	T	0.14783	-1.0460	10	0.16896	T	0.51	.	11.8556	0.52435	0.0:0.9147:0.0:0.0853	.	592	Q8IYE1	CCD13_HUMAN	Q	592	ENSP00000309836:R592Q	ENSP00000309836:R592Q	R	-	2	0	CCDC13	42729756	0.997000	0.39634	0.985000	0.45067	0.882000	0.50991	2.941000	0.49011	2.464000	0.83262	0.591000	0.81541	CGA		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		12	109	0	0	0	1	0	12	109				
AHNAK2	113146	broad.mit.edu	37	14	105409831	105409831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409831G>A	ENST00000333244.5	-	7	12076	c.11957C>T	c.(11956-11958)tCc>tTc	p.S3986F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3986						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTCCATGGACTTGCCTGG	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11956-11958)tCc>tTc		AHNAK nucleoprotein 2							203.0	211.0	209.0					14																	105409831		2031	4179	6210	SO:0001583	missense	113146					nucleus		g.chr14:105409831G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11957C>T	14.37:g.105409831G>A	ENSP00000353114:p.Ser3986Phe					AHNAK2_ENST00000557457.1_Intron	p.S3986F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12076	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3986					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11957C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	15.23	2.771725	0.49680	.	.	ENSG00000185567	ENST00000333244	T	0.01647	4.71	4.0	-2.49	0.06403	.	.	.	.	.	T	0.09158	0.0226	M	0.89414	3.03	0.09310	N	1	D	0.69078	0.997	D	0.71870	0.975	T	0.03493	-1.1031	9	0.56958	D	0.05	.	7.8408	0.29397	0.0:0.1895:0.3458:0.4646	.	3986	Q8IVF2	AHNK2_HUMAN	F	3986	ENSP00000353114:S3986F	ENSP00000353114:S3986F	S	-	2	0	AHNAK2	104480876	0.065000	0.20965	0.000000	0.03702	0.029000	0.11900	-1.323000	0.02692	-0.116000	0.11893	0.306000	0.20318	TCC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		103	160	0	0	0	1	0	103	160				
STK31	56164	broad.mit.edu	37	7	23810623	23810623	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23810623G>T	ENST00000355870.3	+	14	1832		c.e14-1		STK31_ENST00000354639.3_Splice_Site|STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000428484.1_Splice_Site	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCATTTAGGATCAAGGTG	0.343																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e14-1		serine/threonine kinase 31							141.0	141.0	141.0					7																	23810623		2203	4300	6503	SO:0001630	splice_region_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23810623G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1714-1G>T	7.37:g.23810623G>T						STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site		NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			14	2108	+								B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Splice_Site	SNP	ENST00000355870.3	37		CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967239	0.53507	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5616	0.91102	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK31	23777148	1.000000	0.71417	0.994000	0.49952	0.598000	0.36846	6.097000	0.71452	2.471000	0.83476	0.650000	0.86243	.		0.343	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	Intron	15	131	1	0	3.52763e-06	1	4.04633e-06	15	131				
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77767503G>T	ENST00000521891.2	+	10	8794	c.8346G>T	c.(8344-8346)gaG>gaT	p.E2782D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2737D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2756D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2737D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8344-8346)gaG>gaT		zinc finger homeobox 4							34.0	33.0	34.0					8																	77767503		1867	4115	5982	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767503G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8346G>T	8.37:g.77767503G>T	ENSP00000430497:p.Glu2782Asp	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2756D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2737D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2737D	p.E2782D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8794	+			2737					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8346G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	0.722	-0.783337	0.02907	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58652	0.32;0.39;0.36;0.36	4.97	3.17	0.36434	.	0.148915	0.30159	N	0.010268	T	0.47710	0.1460	L	0.28400	0.85	0.42614	D	0.993323	B;B;B	0.26845	0.1;0.161;0.161	B;B;B	0.38683	0.145;0.279;0.279	T	0.44574	-0.9319	10	0.54805	T	0.06	.	6.2	0.20571	0.1669:0.2916:0.5415:0.0	.	2737;2737;2782	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	2782;2766;2737;2737;2756	ENSP00000430497:E2782D;ENSP00000399605:E2737D;ENSP00000050961:E2737D;ENSP00000430848:E2756D	ENSP00000050961:E2737D	E	+	3	2	ZFHX4	77930058	1.000000	0.71417	0.465000	0.27155	0.012000	0.07955	1.128000	0.31369	0.688000	0.31529	-0.314000	0.08810	GAG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	32	1	0	0.184627	1	0.186383	5	32				
DSP	1832	broad.mit.edu	37	6	7567605	7567605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7567605C>T	ENST00000379802.3	+	9	1404	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q355*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	355	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGACACTCTGCAGACGCAGTG	0.413																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1063-1065)Cag>Tag		desmoplakin							186.0	175.0	179.0					6																	7567605		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7567605C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1063C>T	6.37:g.7567605C>T	ENSP00000369129:p.Gln355*					DSP_ENST00000418664.2_Nonsense_Mutation_p.Q355*	p.Q355*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	9	1404	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	355			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.1063C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	42	9.347107	0.99143	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.26	5.26	0.73747	.	0.103458	0.43110	D	0.000618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.2208	0.93796	0.0:1.0:0.0:0.0	.	.	.	.	X	355;355;160	.	ENSP00000369129:Q355X	Q	+	1	0	DSP	7512604	1.000000	0.71417	0.960000	0.40013	0.997000	0.91878	7.772000	0.85439	2.594000	0.87642	0.591000	0.81541	CAG		0.413	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		6	109	0	0	0	1	0	6	109				
ELL	8178	broad.mit.edu	37	19	18572498	18572498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18572498G>T	ENST00000262809.4	-	5	705	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	ELL_ENST00000596124.3_Missense_Mutation_p.L79M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	212					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGGAGGTGCAGCACTCGGTCA	0.667			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(634-636)Ctg>Atg		elongation factor RNA polymerase II							65.0	55.0	58.0					19																	18572498		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18572498G>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.634C>A	19.37:g.18572498G>T	ENSP00000262809:p.Leu212Met		OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726		p.L212M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	5	705	-			212						Missense_Mutation	SNP	ENST00000262809.4	37	c.634C>A	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163950	0.38217	.	.	ENSG00000105656	ENST00000262809	T	0.35789	1.29	4.37	3.27	0.37495	.	0.507519	0.21157	N	0.079225	T	0.38480	0.1042	L	0.29908	0.895	0.32569	N	0.529997	D;D	0.54772	0.968;0.968	P;P	0.59889	0.837;0.865	T	0.47787	-0.9090	10	0.87932	D	0	-5.0399	6.9336	0.24455	0.0:0.3044:0.5216:0.174	.	156;212	Q59HG4;P55199	.;ELL_HUMAN	M	212	ENSP00000262809:L212M	ENSP00000262809:L212M	L	-	1	2	ELL	18433498	0.991000	0.36638	0.934000	0.37439	0.253000	0.25986	1.097000	0.30988	2.272000	0.75746	0.555000	0.69702	CTG		0.667	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		19	26	1	0	7.45023e-12	1	9.32672e-12	19	26				
MSH6	2956	broad.mit.edu	37	2	48026290	48026290	+	Missense_Mutation	SNP	G	G	A	rs147737737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48026290G>A	ENST00000234420.5	+	4	1320	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.D260N|MSH6_ENST00000538136.1_Missense_Mutation_p.D88N	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	390					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.D390N(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATCACCCCGATTTTGATGC	0.448			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		3	Whole gene deletion(2)|Substitution - Missense(1)	p.0?(2)|p.D390N(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1168-1170)Gat>Aat	Mismatch excision repair (MMR)	mutS homolog 6		G	ASN/ASP	0,4406		0,0,2203	126.0	124.0	125.0		1168	4.6	1.0	2	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MSH6	NM_000179.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	390/1361	48026290	1,13005	2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026290G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1168G>A	2.37:g.48026290G>A	ENSP00000234420:p.Asp390Asn					MSH6_ENST00000540021.1_Missense_Mutation_p.D260N|MSH6_ENST00000538136.1_Missense_Mutation_p.D88N|FBXO11_ENST00000405808.1_Intron	p.D390N	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1320	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	390					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1168G>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459971	0.43736	0.0	1.16E-4	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87729	-1.98;-2.08;-2.29	4.63	4.63	0.57726	.	0.104975	0.64402	D	0.000005	D	0.83603	0.5290	L	0.39326	1.205	0.80722	D	1	P;B;P	0.41450	0.566;0.423;0.75	B;B;B	0.41466	0.135;0.087;0.358	T	0.82182	-0.0584	10	0.25751	T	0.34	-13.254	17.6736	0.88224	0.0:0.0:1.0:0.0	.	260;390;390	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	N	390;388;260;88	ENSP00000234420:D390N;ENSP00000446475:D260N;ENSP00000438580:D88N	ENSP00000234420:D390N	D	+	1	0	MSH6	47879794	1.000000	0.71417	0.959000	0.39883	0.980000	0.70556	5.448000	0.66612	2.412000	0.81896	0.655000	0.94253	GAT		0.448	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		9	68	0	0	0	1	0	9	68				
KRT5	3852	broad.mit.edu	37	12	52912800	52912800	+	Missense_Mutation	SNP	C	C	T	rs201553621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52912800C>T	ENST00000252242.4	-	2	1090	c.700G>A	c.(700-702)Gtg>Atg	p.V234M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	234	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTCCCCCACGATGCTGTCC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19436	0.001		0.0	False		,,,				2504	0.0					ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(700-702)Gtg>Atg		keratin 5							179.0	164.0	169.0					12																	52912800		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912800C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.700G>A	12.37:g.52912800C>T	ENSP00000252242:p.Val234Met						p.V234M	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	1090	-			234			Coil 1B.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.700G>A	CCDS8830.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.506	-0.314141	0.05422	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420	T;D	0.88431	-1.12;-2.38	5.31	1.33	0.21861	Filament (1);	0.731030	0.11791	N	0.529212	T	0.77445	0.4131	N	0.19112	0.55	0.09310	N	1	B	0.31485	0.325	B	0.26202	0.067	T	0.65784	-0.6084	10	0.45353	T	0.12	.	6.3042	0.21129	0.0646:0.304:0.4622:0.1691	.	234	P13647	K2C5_HUMAN	M	234;199;124	ENSP00000252242:V234M;ENSP00000447209:V124M	ENSP00000252242:V234M	V	-	1	0	KRT5	51199067	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.020000	0.13466	0.367000	0.24454	-0.951000	0.02657	GTG		0.597	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			61	84	0	0	0	1	0	61	84				
USP15	9958	broad.mit.edu	37	12	62688032	62688032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62688032G>T	ENST00000280377.5	+	2	220	c.162G>T	c.(160-162)caG>caT	p.Q54H	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.Q54H|USP15_ENST00000353364.3_Missense_Mutation_p.Q54H|USP15_ENST00000393654.3_Missense_Mutation_p.Q54H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	54	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACCAGATGGGAGATC	0.358																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(160-162)caG>caT		ubiquitin specific peptidase 15							104.0	98.0	100.0					12																	62688032		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62688032G>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.162G>T	12.37:g.62688032G>T	ENSP00000280377:p.Gln54His					USP15_ENST00000353364.3_Missense_Mutation_p.Q54H|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.Q54H|USP15_ENST00000312635.6_Missense_Mutation_p.Q54H	p.Q54H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	2	220	+			54			DUSP.		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.162G>T	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.106705|2.106705	0.37145|0.37145	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654|ENST00000549237	T;T;T|.	0.19394|.	2.17;2.15;2.17|.	6.17|6.17	4.31|4.31	0.51392|0.51392	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);|.	0.169361|.	0.53938|.	D|.	0.000052|.	T|T	0.31918|0.31918	0.0812|0.0812	N|N	0.04959|0.04959	-0.14|-0.14	0.50813|0.50813	D|D	0.999899|0.999899	B;B;B;B;B|.	0.19583|.	0.018;0.001;0.037;0.007;0.003|.	B;B;B;B;B|.	0.21708|.	0.036;0.006;0.01;0.006;0.003|.	T|T	0.08351|0.08351	-1.0726|-1.0726	9|5	.|.	.|.	.|.	-6.2551|-6.2551	9.7787|9.7787	0.40634|0.40634	0.2884:0.0:0.7116:0.0|0.2884:0.0:0.7116:0.0	.|.	54;54;54;54;54|.	B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9|.	.;.;UBP15_HUMAN;.;.|.	H|I	54|50	ENSP00000258123:Q54H;ENSP00000280377:Q54H;ENSP00000377264:Q54H|.	.|.	Q|R	+|+	3|2	2|0	USP15|USP15	60974299|60974299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.393000|1.393000	0.34497|0.34497	0.873000|0.873000	0.35799|0.35799	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.358	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		7	61	1	0	0.000274275	1	0.000298791	7	61				
TBX1	6899	broad.mit.edu	37	22	19752591	19752591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19752591C>T	ENST00000329705.7	+	6	924	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TBX1_ENST00000332710.4_Silent_p.F265F|TBX1_ENST00000359500.3_Silent_p.F265F	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	265					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCTTTGTGTTCGAGGAGACAC	0.557																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(793-795)ttC>ttT		T-box 1							99.0	93.0	95.0					22																	19752591		2203	4300	6503	SO:0001819	synonymous_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19752591C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.795C>T	22.37:g.19752591C>T						TBX1_ENST00000359500.3_Silent_p.F265F|TBX1_ENST00000329705.7_Silent_p.F265F	p.F265F	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			6	924	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	265					C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	c.795C>T	CCDS13766.1																																																																																				0.557	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		30	45	0	0	0	1	0	30	45				
MKL2	57496	broad.mit.edu	37	16	14342792	14342792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14342792C>T	ENST00000341243.5	+	11	2224	c.2224C>T	c.(2224-2226)Caa>Taa	p.Q742*	MKL2_ENST00000574045.1_Nonsense_Mutation_p.Q703*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.Q703*|MKL2_ENST00000571589.1_Nonsense_Mutation_p.Q753*			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	742	Gln-rich.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACTTCACCACAAGCAGGAAT	0.448																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2257-2259)Caa>Taa		MKL/myocardin-like 2							110.0	95.0	100.0					16																	14342792		2197	4300	6497	SO:0001587	stop_gained	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14342792C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2224C>T	16.37:g.14342792C>T	ENSP00000345841:p.Gln742*					MKL2_ENST00000574045.1_Nonsense_Mutation_p.Q703*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.Q703*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.Q742*	p.Q753*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			13	2429	+			742			Gln-rich.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Nonsense_Mutation	SNP	ENST00000341243.5	37	c.2257C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.859212	0.98980	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.52	5.52	0.82312	.	0.302594	0.38111	N	0.001812	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.6361	16.9487	0.86237	0.0:1.0:0.0:0.0	.	.	.	.	X	703;742	.	ENSP00000339086:Q703X	Q	+	1	0	MKL2	14250293	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.485000	0.60279	2.757000	0.94681	0.655000	0.94253	CAA		0.448	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		19	45	0	0	0	1	0	19	45				
PAPD5	64282	broad.mit.edu	37	16	50245298	50245298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50245298C>T	ENST00000561678.1	+	2	531	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	PAPD5_ENST00000436909.3_Missense_Mutation_p.R220W|PAPD5_ENST00000357464.3_Missense_Mutation_p.R141W			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	141					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGAAGATGCGGATGGAGGT	0.458																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(421-423)Cgg>Tgg		PAP associated domain containing 5							110.0	114.0	113.0					16																	50245298		2029	4184	6213	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50245298C>T	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.457C>T	16.37:g.50245298C>T	ENSP00000455837:p.Arg153Trp					PAPD5_ENST00000436909.3_Missense_Mutation_p.R220W|PAPD5_ENST00000561678.1_Missense_Mutation_p.R153W	p.R141W			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	3	421	+		all_cancers(37;0.0452)	141					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.421C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.043585	0.75732	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.65364	-0.15;0.43	5.6	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82483	-0.0435	10	0.87932	D	0	.	14.3107	0.66415	0.2715:0.7285:0.0:0.0	.	220;141	B4DV38;Q8NDF8	.;PAPD5_HUMAN	W	220;141	ENSP00000396995:R220W;ENSP00000350054:R141W	ENSP00000350054:R141W	R	+	1	2	PAPD5	48802799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.591000	0.46163	0.671000	0.31185	-0.293000	0.09583	CGG		0.458	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		13	21	0	0	0	1	0	13	21				
MAML3	55534	broad.mit.edu	37	4	140810709	140810709	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810709G>T	ENST00000509479.2	-	2	2737	c.1881C>A	c.(1879-1881)ccC>ccA	p.P627P	MAML3_ENST00000398940.1_Silent_p.P155P|MAML3_ENST00000327122.5_Silent_p.P471P	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACGGCATCAAGGGGTTTTTGT	0.562																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1879-1881)ccC>ccA		mastermind-like 3 (Drosophila)							131.0	139.0	136.0					4																	140810709		2202	4298	6500	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810709G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1881C>A	4.37:g.140810709G>T						MAML3_ENST00000398940.1_Silent_p.P155P|MAML3_ENST00000327122.5_Silent_p.P471P	p.P627P	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2737	-	all_hematologic(180;0.162)		623			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1881C>A	CCDS54805.1																																																																																				0.562	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	120	1	0	0.00198382	1	0.00210581	7	120				
INSR	3643	broad.mit.edu	37	19	7170584	7170584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7170584C>T	ENST00000302850.5	-	6	1589	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	INSR_ENST00000341500.5_Missense_Mutation_p.D483N	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	483					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGGGCAATGTCGTTTCTCTCC	0.502																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(1447-1449)Gac>Aac		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						198.0	187.0	191.0					19																	7170584		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7170584C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1447G>A	19.37:g.7170584C>T	ENSP00000303830:p.Asp483Asn					INSR_ENST00000302850.5_Missense_Mutation_p.D483N	p.D483N	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			6	1486	-			483					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.1447G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486197	0.84854	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82344	-1.6;-1.6	4.59	4.59	0.56863	.	0.000000	0.46145	U	0.000313	D	0.91851	0.7421	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.72338	0.933;0.972;0.977	D	0.93360	0.6726	10	0.87932	D	0	.	14.9276	0.70890	0.0:1.0:0.0:0.0	.	474;483;483	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	N	483	ENSP00000303830:D483N;ENSP00000342838:D483N	ENSP00000303830:D483N	D	-	1	0	INSR	7121584	1.000000	0.71417	0.936000	0.37596	0.668000	0.39293	7.311000	0.78958	2.368000	0.80403	0.561000	0.74099	GAC		0.502	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			17	146	0	0	0	1	0	17	146				
CNKSR1	10256	broad.mit.edu	37	1	26515348	26515348	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26515348C>A	ENST00000374253.5	+	20	1836	c.1797C>A	c.(1795-1797)acC>acA	p.T599T	CNKSR1_ENST00000531191.1_Silent_p.T334T|CNKSR1_ENST00000361530.6_Silent_p.T592T|CATSPER4_ENST00000456354.2_5'Flank	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	599					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCTGACCCAGGAACAGT	0.627																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1000-1002)acC>acA		connector enhancer of kinase suppressor of Ras 1							64.0	73.0	70.0					1																	26515348		2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26515348C>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1797C>A	1.37:g.26515348C>A						CNKSR1_ENST00000361530.6_Silent_p.T592T|CNKSR1_ENST00000374253.5_Silent_p.T599T	p.T334T			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	19	2009	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	599			Pro-rich.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.1002C>A																																																																																					0.627	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		5	70	1	0	0.00116845	1	0.00124821	5	70				
ZNF668	79759	broad.mit.edu	37	16	31075731	31075731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075731C>T	ENST00000538906.1	-	2	834	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZNF668_ENST00000300849.4_Missense_Mutation_p.R17H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R40H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R17H|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.R40H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R17H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGGCCCGAGCGCTTGTAGCC	0.632																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(49-51)cGc>cAc		zinc finger protein 668							25.0	32.0	29.0					16																	31075731		2192	4297	6489	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075731C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.50G>A	16.37:g.31075731C>T	ENSP00000440149:p.Arg17His					ZNF668_ENST00000539836.3_Missense_Mutation_p.R40H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R17H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R40H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R17H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R17H	p.R17H	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	834	-			17					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.50G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476095	0.84640	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000414399;ENST00000442862;ENST00000417935;ENST00000426488	T;T;T;T;T;T;T;T	0.55760	3.08;3.08;3.08;3.08;3.08;0.59;3.09;0.5	4.89	4.89	0.63831	.	0.074064	0.50627	D	0.000103	T	0.33644	0.0870	N	0.19112	0.55	0.39824	D	0.972871	B	0.29301	0.241	B	0.17433	0.018	T	0.20538	-1.0272	10	0.34782	T	0.22	-42.241	10.8573	0.46806	0.0:0.9121:0.0:0.0879	.	17	Q96K58	ZN668_HUMAN	H	40;17;17;17;17;17;17;17;17	ENSP00000442573:R40H;ENSP00000441349:R17H;ENSP00000440149:R17H;ENSP00000378434:R17H;ENSP00000300849:R17H;ENSP00000412340:R17H;ENSP00000416853:R17H;ENSP00000390671:R17H	ENSP00000300849:R17H	R	-	2	0	ZNF668	30983232	0.170000	0.23016	0.969000	0.41365	0.964000	0.63967	1.367000	0.34204	2.698000	0.92095	0.561000	0.74099	CGC		0.632	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		27	29	0	0	0	1	0	27	29				
CIRH1A	84916	broad.mit.edu	37	16	69197064	69197064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197064G>A	ENST00000314423.7	+	14	1807	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	CIRH1A_ENST00000563094.1_Missense_Mutation_p.A544T|CIRH1A_ENST00000352319.4_Missense_Mutation_p.A429T			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	544					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCTTGTCATCGCTCATTCGGA	0.498																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1630-1632)Gct>Act		cirrhosis, autosomal recessive 1A (cirhin)							212.0	182.0	192.0					16																	69197064		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69197064G>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1630G>A	16.37:g.69197064G>A	ENSP00000327179:p.Ala544Thr					CIRH1A_ENST00000352319.4_Missense_Mutation_p.A429T|CIRH1A_ENST00000314423.7_Missense_Mutation_p.A544T	p.A544T			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	14	1664	+			544					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1630G>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166902	0.57476	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.29397	1.57;2.11	5.39	4.44	0.53790	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.181349	0.47852	D	0.000203	T	0.19287	0.0463	L	0.34521	1.04	0.45318	D	0.998316	B;P	0.37500	0.123;0.597	B;B	0.26094	0.008;0.066	T	0.04373	-1.0956	10	0.31617	T	0.26	.	12.4642	0.55749	0.0824:0.0:0.9176:0.0	.	544;544	Q969X6;Q969X6-3	CIR1A_HUMAN;.	T	544;429	ENSP00000327179:A544T;ENSP00000339164:A429T	ENSP00000327179:A544T	A	+	1	0	CIRH1A	67754565	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	4.610000	0.61155	2.517000	0.84864	0.563000	0.77884	GCT		0.498	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		55	82	0	0	0	1	0	55	82				
OR6N2	81442	broad.mit.edu	37	1	158747166	158747166	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747166C>A	ENST00000339258.1	-	1	259	c.260G>T	c.(259-261)aGt>aTt	p.S87I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTTCTTCTCACTGAGAATATT	0.448																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(259-261)aGt>aTt		olfactory receptor, family 6, subfamily N, member 2							146.0	141.0	143.0					1																	158747166		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747166C>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.260G>T	1.37:g.158747166C>A	ENSP00000344101:p.Ser87Ile						p.S87I	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	259	-	all_hematologic(112;0.0378)		87					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.260G>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123306	0.56613	.	.	ENSG00000188340	ENST00000339258	T	0.78481	-1.18	5.17	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.154330	0.30658	N	0.009141	T	0.72930	0.3522	M	0.83483	2.645	0.28173	N	0.928478	D	0.57899	0.981	P	0.51701	0.677	T	0.71771	-0.4492	10	0.66056	D	0.02	-12.4229	4.3789	0.11284	0.157:0.6074:0.1519:0.0836	.	87	Q8NGY6	OR6N2_HUMAN	I	87	ENSP00000344101:S87I	ENSP00000344101:S87I	S	-	2	0	OR6N2	157013790	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	-0.027000	0.12371	1.420000	0.47138	-0.133000	0.14855	AGT		0.448	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			7	164	1	0	0.000157383	1	0.00017284	7	164				
METTL3	56339	broad.mit.edu	37	14	21968795	21968795	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21968795G>A	ENST00000298717.4	-	6	1297	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	382				D -> V (in Ref. 1; AAB71850). {ECO:0000305}.	circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.D382D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AGATACTGACGTCCAGGTAGC	0.493																																						ENST00000298717.4																			1	Substitution - coding silent(1)	p.D382D(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1144-1146)gaC>gaT		methyltransferase like 3							142.0	118.0	126.0					14																	21968795		2203	4300	6503	SO:0001819	synonymous_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21968795G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1146C>T	14.37:g.21968795G>A							p.D382D	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	6	1297	-	all_cancers(95;0.000628)		382	D -> V (in Ref. 1; AAB71850).				O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	c.1146C>T	CCDS32044.1																																																																																				0.493	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		4	62	0	0	0	1	0	4	62				
GLIS1	148979	broad.mit.edu	37	1	53980441	53980441	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53980441G>A	ENST00000312233.2	-	7	1781	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGTGATGGAGCCAGGATACA	0.607																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1213-1215)ggC>ggT		GLIS family zinc finger 1							64.0	64.0	64.0					1																	53980441		2203	4300	6503	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53980441G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1215C>T	1.37:g.53980441G>A							p.G405G	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			7	1781	-			405						Silent	SNP	ENST00000312233.2	37	c.1215C>T	CCDS582.1																																																																																				0.607	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		16	21	0	0	0	1	0	16	21				
IARS	3376	broad.mit.edu	37	9	95033829	95033829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95033829C>A	ENST00000375643.3	-	11	1365	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*	IARS_ENST00000447699.2_Nonsense_Mutation_p.G257*|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame|IARS_ENST00000443024.2_Nonsense_Mutation_p.G367*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	367					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACATACTGTCCTGCGAAATCT	0.418																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1099-1101)Gga>Tga		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						142.0	133.0	136.0					9																	95033829		2203	4300	6503	SO:0001587	stop_gained	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95033829C>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1099G>T	9.37:g.95033829C>A	ENSP00000364794:p.Gly367*					IARS_ENST00000443024.2_Nonsense_Mutation_p.G367*|IARS_ENST00000447699.2_Nonsense_Mutation_p.G257*|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame	p.G367*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			11	1365	-			367					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Nonsense_Mutation	SNP	ENST00000375643.3	37	c.1099G>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	39	7.641568	0.98406	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.763	17.3989	0.87454	0.0:1.0:0.0:0.0	.	.	.	.	X	367;367;257;367	.	ENSP00000364794:G367X	G	-	1	0	IARS	94073650	1.000000	0.71417	0.940000	0.37924	0.803000	0.45373	7.105000	0.77031	2.410000	0.81850	0.563000	0.77884	GGA		0.418	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		6	78	1	0	0.00198382	1	0.00210581	6	78				
RAC1	5879	broad.mit.edu	37	7	6426844	6426844	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6426844G>A	ENST00000348035.4	+	2	250	c.37G>A	c.(37-39)Gct>Act	p.A13T	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Splice_Site_p.A13T	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	13					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	TCTCTTTAGAGCTGTAGGTAA	0.323																																						ENST00000348035.4																			0				cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.e2-1		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						114.0	113.0	113.0					7																	6426844		2203	4299	6502	SO:0001630	splice_region_variant	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6426844G>A	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.36-1G>A	7.37:g.6426844G>A						RAC1_ENST00000356142.4_Splice_Site_p.A13_splice|RAC1_ENST00000488373.1_3'UTR	p.A13_splice	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	2	250	+		Ovarian(82;0.0776)	13					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Splice_Site	SNP	ENST00000348035.4	37	c.35_splice	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846871	0.91277	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.70749	-0.51;-0.51	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.101654	0.64402	D	0.000003	D	0.85128	0.5626	M	0.78049	2.395	0.80722	D	1	D;B	0.54207	0.965;0.183	D;P	0.67900	0.954;0.577	D	0.84372	0.0544	10	0.59425	D	0.04	.	20.4702	0.99162	0.0:0.0:1.0:0.0	.	13;13	P63000;A4D2P0	RAC1_HUMAN;.	T	13	ENSP00000258737:A13T;ENSP00000348461:A13T	ENSP00000258737:A13T	A	+	1	0	RAC1	6393369	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.611000	0.98342	2.937000	0.99478	0.650000	0.86243	GCT		0.323	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890	Missense_Mutation	72	42	0	0	0	1	0	72	42				
METTL3	56339	broad.mit.edu	37	14	21971507	21971507	+	Missense_Mutation	SNP	G	G	A	rs374521457		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21971507G>A	ENST00000298717.4	-	3	683	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	178					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCTGCACGCCGCTTCTGCCCT	0.552																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(532-534)Cgg>Tgg		methyltransferase like 3		G	TRP/ARG	0,4406		0,0,2203	103.0	83.0	90.0		532	5.4	1.0	14		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	METTL3	NM_019852.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	178/581	21971507	1,13005	2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971507G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.532C>T	14.37:g.21971507G>A	ENSP00000298717:p.Arg178Trp					METTL3_ENST00000538267.1_Intron	p.R178W	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	683	-	all_cancers(95;0.000628)		178					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.532C>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764287	0.69878	0.0	1.16E-4	ENSG00000165819	ENST00000298717	T	0.34859	1.34	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	N	0.08118	0	0.80722	D	1	B;B;B	0.21688	0.022;0.059;0.006	B;B;B	0.13407	0.005;0.009;0.001	T	0.05484	-1.0882	10	0.66056	D	0.02	-2.3026	13.5521	0.61738	0.0:0.0:0.8437:0.1563	.	178;178;178	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	W	178	ENSP00000298717:R178W	ENSP00000298717:R178W	R	-	1	2	METTL3	21041347	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.090000	0.50191	2.797000	0.96272	0.563000	0.77884	CGG		0.552	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		12	32	0	0	0	1	0	12	32				
PCDH15	65217	broad.mit.edu	37	10	55721597	55721597	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55721597G>T	ENST00000320301.6	-	22	3318	c.2924C>A	c.(2923-2925)cCt>cAt	p.P975H	PCDH15_ENST00000373965.2_Missense_Mutation_p.P982H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P975H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P586H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P938H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P904H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P953H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P980H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P975H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P975H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P982H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	975	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATACTGGCAGGGTAAGGAAA	0.328										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2944-2946)cCt>cAt		protocadherin-related 15							114.0	114.0	114.0					10																	55721597		2203	4298	6501	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55721597G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2924C>A	10.37:g.55721597G>T	ENSP00000322604:p.Pro975His	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P586H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P982H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P938H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P975H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P975H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P975H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P904H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P975H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P953H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P980H|PCDH15_ENST00000395446.1_Intron	p.P982H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			23	3339	-		Melanoma(3;0.117)|Lung SC(717;0.238)	975			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2945C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462947	0.63513	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.04	5.04	0.67666	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33352	0.0860	L	0.31526	0.94	0.33993	D	0.649318	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.994;0.994;0.99;1.0;0.994;1.0;0.984;0.994;0.994;0.984;0.984;0.994	D;D;D;P;D;D;D;D;D;D;P;D;D	0.79108	0.986;0.942;0.942;0.871;0.992;0.961;0.986;0.934;0.961;0.942;0.903;0.934;0.942	T	0.44726	-0.9309	9	0.87932	D	0	.	12.2914	0.54820	0.0:0.292:0.708:0.0	.	953;975;975;980;904;938;975;975;982;982;975;980;975	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	982;980;975;975;586;982;938;975;953;975;975;980;904	ENSP00000363076:P982H;ENSP00000410304:P980H;ENSP00000378826:P975H;ENSP00000386693:P586H;ENSP00000378832:P982H;ENSP00000378820:P938H;ENSP00000354950:P975H;ENSP00000378821:P953H;ENSP00000322604:P975H;ENSP00000378818:P975H;ENSP00000412628:P904H	ENSP00000322604:P975H	P	-	2	0	PCDH15	55391603	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	5.620000	0.67736	2.353000	0.79882	0.467000	0.42956	CCT		0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	95	1	0	0.0293803	1	0.0301098	6	95				
ANO2	57101	broad.mit.edu	37	12	5744492	5744492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5744492C>T	ENST00000356134.5	-	18	1716	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Missense_Mutation_p.V549I|ANO2_ENST00000327087.8_Missense_Mutation_p.V548I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	553					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCCCAAAGACGATTGAGAAT	0.483																																						ENST00000356134.5																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1645-1647)Gtc>Atc		anoctamin 2							79.0	76.0	77.0					12																	5744492		1968	4161	6129	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5744492C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1645G>A	12.37:g.5744492C>T	ENSP00000348453:p.Val549Ile					ANO2_ENST00000327087.8_Missense_Mutation_p.V548I|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Missense_Mutation_p.V549I	p.V549I	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN			18	1716	-			553					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1645G>A		.	.	.	.	.	.	.	.	.	.	C	26.8	4.773558	0.90108	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	M	0.67397	2.05	0.80722	D	1	D	0.57257	0.979	P	0.52454	0.699	T	0.72137	-0.4381	10	0.44086	T	0.13	.	17.5799	0.87963	0.0:1.0:0.0:0.0	.	548	Q9NQ90-3	.	I	548;549;549;553;108	ENSP00000314048:V548I;ENSP00000348453:V549I;ENSP00000440981:V549I;ENSP00000443813:V108I	ENSP00000314048:V548I	V	-	1	0	ANO2	5614753	1.000000	0.71417	0.970000	0.41538	0.949000	0.60115	7.535000	0.82014	2.639000	0.89480	0.545000	0.68477	GTC		0.483	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		6	17	0	0	0	1	0	6	17				
MIR548A1	693125	broad.mit.edu	37	6	18572065	18572065	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18572065A>G	ENST00000385041.1	+	0	51					NR_030312.1				microRNA 548a-1																		tttgccattaaaagtaacgac	0.333																																						ENST00000385041.1																			0																				67.0	60.0	62.0					6																	18572065		1568	3582	5150			0							g.chr6:18572065A>G			6p22.3	2011-09-12		2008-12-18	ENSG00000207775	ENSG00000207775		"""ncRNAs / Micro RNAs"""	32796	non-coding RNA	RNA, micro				MIRN548A1			Standard	NR_030312		Approved	hsa-mir-548a-1	uc021yme.1				6.37:g.18572065A>G								NR_030312.1						0	51	+									RNA	SNP	ENST00000385041.1	37																																																																																						0.333	MIR548A1-201	KNOWN	basic	miRNA	miRNA		NR_030312		25	32	0	0	0	1	0	25	32				
ROMO1	140823	broad.mit.edu	37	20	34288814	34288814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34288814G>T	ENST00000374078.1	+	3	406	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	ROMO1_ENST00000374077.3_Missense_Mutation_p.G76C|NFS1_ENST00000540053.1_5'Flank|NFS1_ENST00000541387.1_5'Flank|NFS1_ENST00000397425.1_5'Flank|ROMO1_ENST00000374072.1_3'UTR|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000397416.1_Missense_Mutation_p.G76C|ROMO1_ENST00000336695.4_Missense_Mutation_p.G76C|NFS1_ENST00000374092.4_5'Flank|NFS1_ENST00000306750.3_5'Flank	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	76					cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				cervix(1)	1						CATTGGGATGGGCATCCGATG	0.522																																						ENST00000374078.1																			0				cervix(1)	1						c.(226-228)Ggc>Tgc		reactive oxygen species modulator 1							124.0	84.0	98.0					20																	34288814		2203	4300	6503	SO:0001583	missense	140823				cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane		g.chr20:34288814G>T	AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"""mitochondrial targeting GXXXG protein"""		"""chromosome 20 open reading frame 52"""	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.226G>T	20.37:g.34288814G>T	ENSP00000363191:p.Gly76Cys					ROMO1_ENST00000336695.4_Missense_Mutation_p.G76C|ROMO1_ENST00000374072.1_3'UTR|ROMO1_ENST00000397416.1_Missense_Mutation_p.G76C|ROMO1_ENST00000374077.3_Missense_Mutation_p.G76C	p.G76C	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN			3	406	+			76					A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Missense_Mutation	SNP	ENST00000374078.1	37	c.226G>T	CCDS13264.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791891	0.90453	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000397416;ENST00000336695	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.68	4.68	0.58851	.	0.052679	0.85682	D	0.000000	T	0.65165	0.2665	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.67205	-0.5729	9	0.48119	T	0.1	.	17.8542	0.88758	0.0:0.0:1.0:0.0	.	76	P60602	ROMO1_HUMAN	C	76	ENSP00000363191:G76C;ENSP00000363190:G76C;ENSP00000380561:G76C;ENSP00000338293:G76C	ENSP00000338293:G76C	G	+	1	0	ROMO1	33752228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.648000	0.98483	2.448000	0.82819	0.650000	0.86243	GGC		0.522	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	NM_080748		16	41	1	0	1.5739e-10	1	1.9432e-10	16	41				
DNAH3	55567	broad.mit.edu	37	16	21045299	21045299	+	Missense_Mutation	SNP	C	C	T	rs562202929		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21045299C>T	ENST00000261383.3	-	36	5193	c.5194G>A	c.(5194-5196)Gca>Aca	p.A1732T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1732T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1732	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTACCTGCGTGTAAATCG	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17680	0.0		0.0	False		,,,				2504	0.0					ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5194-5196)Gca>Aca		dynein, axonemal, heavy chain 3							75.0	63.0	67.0					16																	21045299		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21045299C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5194G>A	16.37:g.21045299C>T	ENSP00000261383:p.Ala1732Thr					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1732T	p.A1732T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	36	5193	-			1732			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5194G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	8.899	0.955980	0.18507	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.23950	1.88;2.04	4.88	2.91	0.33838	.	0.646613	0.15236	N	0.273155	T	0.15869	0.0382	N	0.25890	0.77	0.26641	N	0.972287	B	0.20368	0.044	B	0.09377	0.004	T	0.20605	-1.0270	10	0.27082	T	0.32	.	7.8985	0.29721	0.0:0.7198:0.1321:0.1481	.	1732	Q8TD57	DYH3_HUMAN	T	1732	ENSP00000261383:A1732T;ENSP00000394245:A1732T	ENSP00000261383:A1732T	A	-	1	0	DNAH3	20952800	0.217000	0.23597	0.328000	0.25416	0.252000	0.25951	0.795000	0.26972	0.578000	0.29487	0.655000	0.94253	GCA		0.537	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		15	15	0	0	0	1	0	15	15				
GLT1D1	144423	broad.mit.edu	37	12	129467473	129467473	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129467473G>T	ENST00000442111.2	+	12	967		c.e12-1		GLT1D1_ENST00000281703.6_Splice_Site|GLT1D1_ENST00000537468.1_Splice_Site|GLT1D1_ENST00000542193.1_Splice_Site			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1						biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTTTTTTGCAGGAGTTTGTTC	0.443																																						ENST00000442111.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.e12-1		glycosyltransferase 1 domain containing 1							122.0	111.0	115.0					12																	129467473		2203	4300	6503	SO:0001630	splice_region_variant	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129467473G>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.880-1G>T	12.37:g.129467473G>T						GLT1D1_ENST00000537468.1_Splice_Site|GLT1D1_ENST00000542193.1_Splice_Site|GLT1D1_ENST00000281703.6_Splice_Site				Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	12	967	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q86XG8	Splice_Site	SNP	ENST00000442111.2	37			.	.	.	.	.	.	.	.	.	.	G	16.87	3.240684	0.58995	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6597	0.85238	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLT1D1	128033426	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.995000	0.63908	2.604000	0.88044	0.563000	0.77884	.		0.443	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	Intron	28	60	1	0	7.38237e-10	1	9.02878e-10	28	60				
CPEB1	64506	broad.mit.edu	37	15	83296017	83296017	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296017T>C	ENST00000562019.1	-	2	433	c.117A>G	c.(115-117)atA>atG	p.I39M	CPEB1_ENST00000450751.2_De_novo_Start_InFrame|CPEB1_ENST00000563800.1_Missense_Mutation_p.I66M|CPEB1_ENST00000568128.1_Missense_Mutation_p.I39M|CPEB1_ENST00000568757.1_De_novo_Start_OutOfFrame			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	39					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AATTATCCAATATGGCATTTA	0.408																																						ENST00000568757.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28								cytoplasmic polyadenylation element binding protein 1							146.0	140.0	142.0					15																	83296017		1888	4120	6008	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83296017T>C	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.117A>G	15.37:g.83296017T>C	ENSP00000457836:p.Ile39Met					CPEB1_ENST00000450751.2_De_novo_Start_InFrame|CPEB1_ENST00000563800.1_Missense_Mutation_p.I66M|CPEB1_ENST00000562019.1_Missense_Mutation_p.I39M|CPEB1_ENST00000568128.1_Missense_Mutation_p.I39M				Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		0	324	-								B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Translation_Start_Site	SNP	ENST00000562019.1	37			.	.	.	.	.	.	.	.	.	.	T	6.011	0.370418	0.11352	.	.	ENSG00000214575	ENST00000450751;ENST00000398593	.	.	.	5.77	-4.33	0.03677	.	0.306093	0.32503	U	0.006005	T	0.12646	0.0307	N	0.01576	-0.805	0.80722	D	1	B;B;B	0.12013	0.0;0.002;0.005	B;B;B	0.12837	0.001;0.005;0.008	T	0.35773	-0.9775	9	0.05620	T	0.96	-0.4449	8.0539	0.30593	0.2764:0.5698:0.0:0.1539	.	39;39;39	Q9BZB8-3;Q9BZB8;E7ET70	.;CPEB1_HUMAN;.	M	39	.	ENSP00000381593:I39M	I	-	3	3	CPEB1	81093072	0.995000	0.38212	0.965000	0.40720	0.995000	0.86356	0.480000	0.22244	-0.721000	0.04929	0.528000	0.53228	ATA		0.408	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		5	84	0	0	0	1	0	5	84				
GZF1	64412	broad.mit.edu	37	20	23350797	23350797	+	Missense_Mutation	SNP	G	G	A	rs200001696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23350797G>A	ENST00000338121.5	+	6	1932	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	GZF1_ENST00000544236.1_Missense_Mutation_p.G143R|GZF1_ENST00000542987.1_Missense_Mutation_p.G128R|GZF1_ENST00000377051.2_Missense_Mutation_p.G619R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	619					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAACGATGACGGACACAAGAC	0.433																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1855-1857)Gga>Aga		GDNF-inducible zinc finger protein 1							95.0	82.0	87.0					20																	23350797		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350797G>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1855G>A	20.37:g.23350797G>A	ENSP00000338290:p.Gly619Arg					GZF1_ENST00000377051.2_Missense_Mutation_p.G619R|GZF1_ENST00000544236.1_Missense_Mutation_p.G143R|GZF1_ENST00000542987.1_Missense_Mutation_p.G128R	p.G619R			Q9H116	GZF1_HUMAN			6	1932	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		619					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1855G>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	8.453	0.853565	0.17106	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.10382	3.03;2.88;3.34;2.88	5.92	2.42	0.29668	.	0.361485	0.22456	N	0.059826	T	0.06600	0.0169	L	0.29908	0.895	0.09310	N	1	P	0.48998	0.918	B	0.34722	0.188	T	0.32455	-0.9906	10	0.33940	T	0.23	.	11.357	0.49621	0.2407:0.0:0.7593:0.0	.	619	Q9H116	GZF1_HUMAN	R	143;619;128;619	ENSP00000445458:G143R;ENSP00000338290:G619R;ENSP00000445118:G128R;ENSP00000366250:G619R	ENSP00000338290:G619R	G	+	1	0	GZF1	23298797	0.254000	0.23992	0.001000	0.08648	0.010000	0.07245	2.118000	0.41949	0.799000	0.34018	-0.136000	0.14681	GGA		0.433	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		10	25	0	0	0	1	0	10	25				
ZNF16	7564	broad.mit.edu	37	8	146156218	146156218	+	Missense_Mutation	SNP	G	G	T	rs543022847		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156218G>T	ENST00000276816.4	-	4	2141	c.1955C>A	c.(1954-1956)aCt>aAt	p.T652N	ZNF16_ENST00000394909.2_Missense_Mutation_p.T652N	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	652					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTTCACCCCAGTGTGAATCCT	0.527																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1954-1956)aCt>aAt		zinc finger protein 16							138.0	133.0	134.0					8																	146156218		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156218G>T	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1955C>A	8.37:g.146156218G>T	ENSP00000276816:p.Thr652Asn					ZNF16_ENST00000394909.2_Missense_Mutation_p.T652N	p.T652N	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	2141	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	652					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1955C>A	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958222	0.34565	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.26067	1.76;1.76	4.0	3.09	0.35607	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31827	0.0809	M	0.64404	1.975	0.34214	D	0.674591	P	0.43314	0.803	P	0.45428	0.48	T	0.52373	-0.8584	9	0.66056	D	0.02	.	10.9378	0.47255	0.0981:0.0:0.9019:0.0	.	652	P17020	ZNF16_HUMAN	N	652	ENSP00000276816:T652N;ENSP00000378369:T652N	ENSP00000276816:T652N	T	-	2	0	ZNF16	146127022	1.000000	0.71417	0.977000	0.42913	0.658000	0.38924	3.034000	0.49751	2.058000	0.61347	0.462000	0.41574	ACT		0.527	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		40	77	1	0	7.04047e-22	1	9.28103e-22	40	77				
DEPDC1	55635	broad.mit.edu	37	1	68948463	68948463	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68948463T>C	ENST00000456315.2	-	8	1142	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	343					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAGGCACTCAGTTGATTT	0.348																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1027-1029)gAg>gGg		DEP domain containing 1							105.0	94.0	97.0					1																	68948463		1568	3581	5149	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948463T>C	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1028A>G	1.37:g.68948463T>C	ENSP00000412292:p.Glu343Gly					RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	p.E343G	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1142	-			343					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1028A>G	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852725	0.71719	.	.	ENSG00000024526	ENST00000456315;ENST00000370964	T	0.19532	2.14	5.58	5.58	0.84498	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.04041	-1.0982	10	0.66056	D	0.02	-4.3922	15.7549	0.78015	0.0:0.0:0.0:1.0	.	343	Q5TB30	DEP1A_HUMAN	G	343;299	ENSP00000412292:E343G	ENSP00000360003:E299G	E	-	2	0	DEPDC1	68721051	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.665000	0.74442	2.119000	0.64992	0.528000	0.53228	GAG		0.348	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		11	74	0	0	0	1	0	11	74				
C16orf93	90835	broad.mit.edu	37	16	30770336	30770336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30770336G>A	ENST00000543610.1	-	8	1775	c.814C>T	c.(814-816)Cca>Tca	p.P272S	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Missense_Mutation_p.P337S|PHKG2_ENST00000563588.1_3'UTR|RNF40_ENST00000324685.6_5'Flank	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	272										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCTCACTTGGCTCTGGCTCT	0.517																																						ENST00000543610.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(814-816)Cca>Tca		chromosome 16 open reading frame 93							161.0	148.0	153.0					16																	30770336		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30770336G>A	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.814C>T	16.37:g.30770336G>A	ENSP00000437532:p.Pro272Ser					PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Missense_Mutation_p.P337S|PHKG2_ENST00000424889.3_Intron	p.P272S	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN			8	1775	-			272					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.814C>T	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	G	9.848	1.192798	0.21954	.	.	ENSG00000196118	ENST00000354963;ENST00000543610	.	.	.	4.86	0.525	0.17072	.	0.325511	0.29034	N	0.013346	T	0.28101	0.0693	N	0.24115	0.695	0.80722	D	1	B;B;B	0.21753	0.017;0.06;0.017	B;B;B	0.23419	0.007;0.046;0.018	T	0.06625	-1.0816	9	0.08599	T	0.76	.	3.9095	0.09197	0.2697:0.0:0.5655:0.1648	.	235;44;272	A1A4V9-2;A1A4V9-3;A1A4V9	.;.;CP093_HUMAN	S	235;272	.	ENSP00000347050:P235S	P	-	1	0	C16orf93	30677837	0.998000	0.40836	0.990000	0.47175	0.334000	0.28698	0.582000	0.23834	0.051000	0.15978	0.655000	0.94253	CCA		0.517	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		72	78	0	0	0	1	0	72	78				
RGS7	6000	broad.mit.edu	37	1	241262035	241262035	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241262035C>A	ENST00000407727.1	-	2	105	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	RGS7_ENST00000366565.1_Missense_Mutation_p.D36Y|RGS7_ENST00000348120.2_Missense_Mutation_p.D36Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366563.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366562.4_Missense_Mutation_p.D36Y|RGS7_ENST00000331110.7_Missense_Mutation_p.D10Y|RGS7_ENST00000446183.2_5'UTR			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	36					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTTTCATCTTGCATCCGT	0.343																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(106-108)Gat>Tat		regulator of G-protein signaling 7							179.0	157.0	165.0					1																	241262035		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241262035C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.106G>T	1.37:g.241262035C>A	ENSP00000384428:p.Asp36Tyr					RGS7_ENST00000407727.1_Missense_Mutation_p.D36Y|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.D36Y|RGS7_ENST00000348120.2_Missense_Mutation_p.D36Y|RGS7_ENST00000331110.7_Missense_Mutation_p.D10Y|RGS7_ENST00000366563.1_Missense_Mutation_p.D36Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D36Y	p.D36Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		3	487	-		all_cancers(173;0.0131)	36					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.106G>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.395135	0.83011	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T	0.47869	1.22;1.3;1.3;1.31;0.83;1.3;1.29;0.83	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.99;0.999;0.993	T	0.66101	-0.6007	10	0.87932	D	0	-17.2513	14.5808	0.68288	0.0:1.0:0.0:0.0	.	10;36;36;36;36	B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.	Y	10;36;36;36;36;36;36;36	ENSP00000331485:D10Y;ENSP00000355523:D36Y;ENSP00000355522:D36Y;ENSP00000355521:D36Y;ENSP00000341242:D36Y;ENSP00000355520:D36Y;ENSP00000384428:D36Y;ENSP00000385508:D36Y	ENSP00000331485:D10Y	D	-	1	0	RGS7	239328658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.591000	0.74090	2.572000	0.86782	0.655000	0.94253	GAT		0.343	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		11	57	1	0	0.00136819	1	0.00146042	11	57				
ZNF532	55205	broad.mit.edu	37	18	56586416	56586416	+	Silent	SNP	G	G	A	rs368482208		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586416G>A	ENST00000336078.4	+	4	1673	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_ENST00000591808.1_Silent_p.P299P|ZNF532_ENST00000591230.1_Silent_p.P299P|ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542													g|||	1	0.000199681	0.0	0.0	5008	,	,		17415	0.0		0.0	False		,,,				2504	0.001					ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(895-897)ccG>ccA		zinc finger protein 532		G		1,4405	2.1+/-5.4	0,1,2202	81.0	82.0	82.0		897	-9.9	0.1	18		82	0,8598		0,0,4299	no	coding-synonymous	ZNF532	NM_018181.4		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		299/1302	56586416	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586416G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.897G>A	18.37:g.56586416G>A						ZNF532_ENST00000591230.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P|ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000591808.1_Silent_p.P299P	p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1673	+			299					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.897G>A	CCDS11969.1																																																																																				0.542	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		46	70	0	0	0	1	0	46	70				
WWP1	11059	broad.mit.edu	37	8	87479030	87479030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87479030C>T	ENST00000517970.1	+	25	2984	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	WWP1_ENST00000349423.2_Missense_Mutation_p.R675C|WWP1_ENST00000341922.2_Missense_Mutation_p.R763C|WWP1_ENST00000265428.4_Missense_Mutation_p.R893C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	893	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CAGTTTTAATCGCTTGGATCT	0.308																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2677-2679)Cgc>Tgc		WW domain containing E3 ubiquitin protein ligase 1							75.0	81.0	79.0					8																	87479030		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87479030C>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2677C>T	8.37:g.87479030C>T	ENSP00000427793:p.Arg893Cys					WWP1_ENST00000341922.2_Missense_Mutation_p.R763C|WWP1_ENST00000265428.4_Missense_Mutation_p.R893C|WWP1_ENST00000349423.2_Missense_Mutation_p.R675C	p.R893C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			25	2984	+			893			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2677C>T	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568085	0.65651	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.97	4.97	0.65823	HECT (4);	0.115612	0.64402	N	0.000011	D	0.84588	0.5505	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90368	0.4378	10	0.87932	D	0	.	18.2195	0.89897	0.0:1.0:0.0:0.0	.	893	Q9H0M0	WWP1_HUMAN	C	893;893;763;675	ENSP00000427793:R893C;ENSP00000265428:R893C;ENSP00000340564:R763C;ENSP00000342665:R675C	ENSP00000265428:R893C	R	+	1	0	WWP1	87548146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.337000	0.79256	2.290000	0.77057	0.591000	0.81541	CGC		0.308	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		32	75	0	0	0	1	0	32	75				
ATP1A1	476	broad.mit.edu	37	1	116931303	116931303	+	Missense_Mutation	SNP	C	C	T	rs139745455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116931303C>T	ENST00000295598.5	+	6	797	c.545C>T	c.(544-546)gCg>gTg	p.A182V	ATP1A1_ENST00000537345.1_Missense_Mutation_p.A182V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.A151V	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	182					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGCATAAATGCGGAGGAAGTT	0.438																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(544-546)gCg>gTg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	105.0	110.0	108.0		545,545,452	5.2	0.6	1	dbSNP_134	108	0,8600		0,0,4300	no	missense,missense,missense	ATP1A1	NM_000701.7,NM_001160233.1,NM_001160234.1	64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	182/1024,182/1024,151/993	116931303	1,13005	2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116931303C>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.545C>T	1.37:g.116931303C>T	ENSP00000295598:p.Ala182Val					ATP1A1_ENST00000295598.5_Missense_Mutation_p.A182V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.A151V	p.A182V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	6	908	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	182					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.545C>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410178	0.42715	2.27E-4	0.0	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.91631	-2.88;-2.88;-2.88	5.17	5.17	0.71159	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	M	0.75085	2.285	0.80722	D	1	B;B	0.28552	0.18;0.215	B;B	0.24394	0.031;0.053	D	0.86989	0.2109	10	0.38643	T	0.18	.	18.8482	0.92215	0.0:1.0:0.0:0.0	.	182;182	F5H3A1;P05023	.;AT1A1_HUMAN	V	182;182;181;151	ENSP00000295598:A182V;ENSP00000445306:A182V;ENSP00000358508:A151V	ENSP00000295598:A182V	A	+	2	0	ATP1A1	116732826	1.000000	0.71417	0.645000	0.29479	0.100000	0.18952	5.932000	0.70121	2.676000	0.91093	0.655000	0.94253	GCG		0.438	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		43	71	0	0	0	1	0	43	71				
ATRX	546	broad.mit.edu	37	X	76776890	76776890	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776890A>G	ENST00000373344.5	-	33	7276	c.7062T>C	c.(7060-7062)atT>atC	p.I2354I	ATRX_ENST00000395603.3_Silent_p.I2316I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2354					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTACAGCTGAAATTATATCCT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(7060-7062)atT>atC		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						150.0	124.0	133.0					X																	76776890		2202	4296	6498	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76776890A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7062T>C	X.37:g.76776890A>G						ATRX_ENST00000395603.3_Silent_p.I2316I|ATRX_ENST00000480283.1_5'UTR	p.I2354I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			33	7276	-			2354					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.7062T>C	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	69	0	0	0	1	0	9	69				
C15orf54	400360	broad.mit.edu	37	15	39544356	39544356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39544356C>A	ENST00000318578.3	+	2	388	c.20C>A	c.(19-21)aCt>aAt	p.T7N	RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T7N|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	7										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AAATTCATTACTGGCAAGCAC	0.473																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(19-21)aCt>aAt		chromosome 15 open reading frame 54							115.0	120.0	119.0					15																	39544356		2200	4296	6496	SO:0001583	missense	400360							g.chr15:39544356C>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.20C>A	15.37:g.39544356C>A	ENSP00000323686:p.Thr7Asn					RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T7N|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	p.T7N	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	388	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	7					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.20C>A	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114003	0.37339	.	.	ENSG00000175746	ENST00000318578	T	0.37411	1.2	5.05	-4.49	0.03504	.	.	.	.	.	T	0.19127	0.0459	N	0.08118	0	0.21579	N	0.999631	P	0.47191	0.891	B	0.41088	0.347	T	0.30327	-0.9982	9	0.87932	D	0	.	12.9065	0.58156	0.0:0.6216:0.0:0.3784	.	7	Q8N8G6	CO054_HUMAN	N	7	ENSP00000323686:T7N	ENSP00000323686:T7N	T	+	2	0	C15orf54	37331648	0.859000	0.29813	0.609000	0.28983	0.978000	0.69477	-0.733000	0.04898	-1.131000	0.02910	-1.021000	0.02439	ACT		0.473	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		22	193	1	0	1.10513e-12	1	1.39297e-12	22	193				
LTK	4058	broad.mit.edu	37	15	41799345	41799345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41799345G>A	ENST00000263800.6	-	11	1585	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LTK_ENST00000453182.2_Missense_Mutation_p.A397V|LTK_ENST00000355166.5_Missense_Mutation_p.P436S|LTK_ENST00000561619.1_Missense_Mutation_p.P195S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	497					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGTGGCAGAGGCCAGGACTGG	0.582										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(1489-1491)Cct>Tct		leukocyte receptor tyrosine kinase							59.0	60.0	59.0					15																	41799345		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41799345G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1489C>T	15.37:g.41799345G>A	ENSP00000263800:p.Pro497Ser	TSP Lung(18;0.14)				LTK_ENST00000561619.1_Missense_Mutation_p.P195S|LTK_ENST00000453182.2_Missense_Mutation_p.A397V|LTK_ENST00000355166.5_Missense_Mutation_p.P436S	p.P497S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	11	1585	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	497					A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1489C>T	CCDS10077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.678|2.678	-0.276102|-0.276102	0.05679|0.05679	.|.	.|.	ENSG00000062524|ENSG00000062524	ENST00000453182|ENST00000355166;ENST00000263800	T|D;D	0.75589|0.88741	-0.95|-2.42;-2.42	5.01|5.01	1.04|1.04	0.20106|0.20106	.|Protein kinase-like domain (1);	.|0.000000	.|0.34362	.|U	.|0.004023	T|T	0.80819|0.80819	0.4696|0.4696	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999995|0.999995	B|B;B	0.06786|0.09022	0.001|0.002;0.002	B|B;B	0.06405|0.13407	0.002|0.009;0.004	T|T	0.62732|0.62732	-0.6792|-0.6792	9|10	0.54805|0.22706	T|T	0.06|0.39	.|.	3.403|3.403	0.07331|0.07331	0.1545:0.135:0.571:0.1395|0.1545:0.135:0.571:0.1395	.|.	397|436;497	E9PFX4|P29376-4;P29376	.|.;LTK_HUMAN	V|S	397|436;497	ENSP00000392196:A397V|ENSP00000347293:P436S;ENSP00000263800:P497S	ENSP00000392196:A397V|ENSP00000263800:P497S	A|P	-|-	2|1	0|0	LTK|LTK	39586637|39586637	0.916000|0.916000	0.31088|0.31088	0.766000|0.766000	0.31476|0.31476	0.639000|0.639000	0.38242|0.38242	1.552000|1.552000	0.36244|0.36244	0.051000|0.051000	0.15978|0.15978	-1.062000|-1.062000	0.02293|0.02293	GCC|CCT		0.582	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			22	40	0	0	0	1	0	22	40				
DIP2C	22982	broad.mit.edu	37	10	373112	373112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:373112C>T	ENST00000280886.6	-	31	3845	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1253						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCCAGCCCTCGCGCCTGGAG	0.577																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3757-3759)cGa>cAa		DIP2 disco-interacting protein 2 homolog C (Drosophila)							51.0	46.0	48.0					10																	373112		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:373112C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3758G>A	10.37:g.373112C>T	ENSP00000280886:p.Arg1253Gln						p.R1253Q	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	31	3845	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1253					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3758G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173635	0.78452	.	.	ENSG00000151240	ENST00000280886;ENST00000535541;ENST00000381503	T	0.40476	1.03	5.62	5.62	0.85841	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.64170	1.965	0.80722	D	1	P	0.41748	0.761	B	0.43386	0.418	T	0.52034	-0.8629	10	0.56958	D	0.05	-13.5947	19.6699	0.95907	0.0:1.0:0.0:0.0	.	1253	Q9Y2E4	DIP2C_HUMAN	Q	1253;178;102	ENSP00000280886:R1253Q	ENSP00000280886:R1253Q	R	-	2	0	DIP2C	363112	1.000000	0.71417	0.998000	0.56505	0.303000	0.27691	7.818000	0.86416	2.639000	0.89480	0.585000	0.79938	CGA		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		10	19	0	0	0	1	0	10	19				
OPA1	4976	broad.mit.edu	37	3	193355763	193355763	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193355763G>T	ENST00000392438.3	+	9	1127	c.893G>T	c.(892-894)aGt>aTt	p.S298I	OPA1_ENST00000361510.2_Missense_Mutation_p.S353I|OPA1_ENST00000361908.3_Missense_Mutation_p.S335I|OPA1_ENST00000361715.2_Missense_Mutation_p.S317I|OPA1_ENST00000361150.2_Missense_Mutation_p.S299I|OPA1_ENST00000361828.2_Missense_Mutation_p.S316I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	298	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAGATCAGAGTGCTGGAAAG	0.388																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1057-1059)aGt>aTt		optic atrophy 1 (autosomal dominant)							191.0	178.0	182.0					3																	193355763		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193355763G>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.893G>T	3.37:g.193355763G>T	ENSP00000376233:p.Ser298Ile					OPA1_ENST00000392438.3_Missense_Mutation_p.S298I|OPA1_ENST00000361908.3_Missense_Mutation_p.S335I|OPA1_ENST00000361828.2_Missense_Mutation_p.S316I|OPA1_ENST00000361150.2_Missense_Mutation_p.S299I|OPA1_ENST00000361715.2_Missense_Mutation_p.S317I	p.S353I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	11	1292	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		298					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1058G>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607349	0.87157	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	5.6	5.6	0.85130	Dynamin, GTPase domain (2);	0.074868	0.85682	D	0.000000	D	0.99573	0.9846	H	0.98769	4.325	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;0.999;1.0	D	0.97746	1.0211	10	0.87932	D	0	-16.7704	18.5979	0.91235	0.0:0.0:1.0:0.0	.	262;298;280;299;316;335;317;353	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	I	335;298;353;317;316;299	ENSP00000354681:S335I;ENSP00000376233:S298I;ENSP00000355324:S353I;ENSP00000355311:S317I;ENSP00000354429:S316I;ENSP00000354781:S299I	ENSP00000354781:S299I	S	+	2	0	OPA1	194838457	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.813000	0.99286	2.630000	0.89119	0.591000	0.81541	AGT		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		4	28	1	0	0.00909568	1	0.00947522	4	28				
GAS2L2	246176	broad.mit.edu	37	17	34072720	34072720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072720G>A	ENST00000254466.6	-	6	1823	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A583V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	599					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGTAGATGGCTTGCTCCTT	0.597																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1795-1797)gCc>gTc		growth arrest-specific 2 like 2							97.0	94.0	95.0					17																	34072720		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072720G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1796C>T	17.37:g.34072720G>A	ENSP00000254466:p.Ala599Val					GAS2L2_ENST00000587565.1_Missense_Mutation_p.A583V	p.A599V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1823	-		Ovarian(249;0.17)	599					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1796C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104122	0.37145	.	.	ENSG00000132139	ENST00000254466	T	0.20069	2.1	4.63	-1.49	0.08718	.	1.005160	0.08010	N	0.990191	T	0.12475	0.0303	L	0.32530	0.975	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.35599	-0.9782	10	0.34782	T	0.22	-0.1889	1.0821	0.01644	0.1713:0.2583:0.3063:0.2642	.	599	Q8NHY3	GA2L2_HUMAN	V	599	ENSP00000254466:A599V	ENSP00000254466:A599V	A	-	2	0	GAS2L2	31096833	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	0.061000	0.14366	-0.393000	0.07739	-0.229000	0.12294	GCC		0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		28	82	0	0	0	1	0	28	82				
PCDHGA3	56112	broad.mit.edu	37	5	140725798	140725798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725798C>T	ENST00000253812.6	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCTTGGCGAGTACGCCC	0.672																																						ENST00000253812.6																			0				breast(1)	1						c.(2197-2199)gCg>gTg									55.0	62.0	60.0					5																	140725798		2203	4300	6503	SO:0001583	missense	0							g.chr5:140725798C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2198C>T	5.37:g.140725798C>T	ENSP00000253812:p.Ala733Val					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A733V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2198	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2198C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	7.958	0.746314	0.15710	.	.	ENSG00000254245	ENST00000253812	T	0.46451	0.87	4.92	-2.37	0.06643	.	8.522490	0.04623	U	0.402359	T	0.29288	0.0729	L	0.37630	1.12	0.09310	N	1	B;B	0.15141	0.012;0.011	B;B	0.13407	0.008;0.009	T	0.17289	-1.0374	10	0.14656	T	0.56	.	6.7541	0.23503	0.0:0.239:0.3419:0.419	.	733;733	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	733	ENSP00000253812:A733V	ENSP00000253812:A733V	A	+	2	0	PCDHGA3	140705982	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.165000	0.09968	-0.240000	0.09696	-1.129000	0.01985	GCG		0.672	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		20	42	0	0	0	1	0	20	42				
MET	4233	broad.mit.edu	37	7	116435789	116435789	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116435789T>C	ENST00000318493.6	+	20	4120	c.3933T>C	c.(3931-3933)acT>acC	p.T1311T	MET_ENST00000539704.1_Silent_p.T163T|MET_ENST00000397752.3_Silent_p.T1293T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGATATAACTGTTTACTTGT	0.453			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3877-3879)acT>acC		met proto-oncogene							206.0	198.0	200.0					7																	116435789		1882	4108	5990	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116435789T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3933T>C	7.37:g.116435789T>C			OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1473	MET_ENST00000318493.6_Silent_p.T1311T|MET_ENST00000539704.1_Silent_p.T163T	p.T1293T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		20	4079	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1293			Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.3879T>C	CCDS47689.1																																																																																				0.453	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			179	144	0	0	0	1	0	179	144				
TMEM9B	56674	broad.mit.edu	37	11	8969875	8969875	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8969875G>T	ENST00000534025.1	-	5	1048	c.589C>A	c.(589-591)Ctc>Atc	p.L197I	TMEM9B_ENST00000525069.1_Missense_Mutation_p.L123I|TMEM9B_ENST00000309134.5_Missense_Mutation_p.L123I	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	197					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		AATTAGCTGAGGACAACATGC	0.458																																						ENST00000534025.1																			0				breast(1)|lung(1)|prostate(1)	3						c.(589-591)Ctc>Atc		TMEM9 domain family, member B							126.0	120.0	122.0					11																	8969875		2201	4296	6497	SO:0001583	missense	56674				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr11:8969875G>T	AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 15"""	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.589C>A	11.37:g.8969875G>T	ENSP00000433361:p.Leu197Ile					TMEM9B_ENST00000309134.5_Missense_Mutation_p.L123I|TMEM9B_ENST00000525069.1_Missense_Mutation_p.L123I	p.L197I	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN		Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)	5	1048	-			197					Q7Z649	Missense_Mutation	SNP	ENST00000534025.1	37	c.589C>A	CCDS7796.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858328	0.91433	.	.	ENSG00000175348	ENST00000309134;ENST00000534025;ENST00000525069	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.85373	2.75	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.85812	0.1380	9	0.87932	D	0	.	18.5813	0.91172	0.0:0.0:1.0:0.0	.	197	Q9NQ34	TMM9B_HUMAN	I	123;197;123	.	ENSP00000311842:L123I	L	-	1	0	TMEM9B	8926451	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.666000	0.83877	2.826000	0.97356	0.655000	0.94253	CTC		0.458	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385722.1			5	103	1	0	0.000602214	1	0.000649039	5	103				
GBA2	57704	broad.mit.edu	37	9	35738597	35738597	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35738597C>A	ENST00000378103.3	-	13	2503	c.1980G>T	c.(1978-1980)aaG>aaT	p.K660N	GBA2_ENST00000378094.4_Missense_Mutation_p.K660N|GBA2_ENST00000545786.1_Missense_Mutation_p.K666N|GBA2_ENST00000378088.1_De_novo_Start_OutOfFrame|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	660					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATCATGGTCCTTGTCAAACT	0.517																																						ENST00000378088.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21								glucosidase, beta (bile acid) 2							180.0	157.0	165.0					9																	35738597		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35738597C>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1980G>T	9.37:g.35738597C>A	ENSP00000367343:p.Lys660Asn					GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Missense_Mutation_p.K660N|GBA2_ENST00000545786.1_Missense_Mutation_p.K666N|GBA2_ENST00000378094.4_Missense_Mutation_p.K660N				Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		0	35	-	all_epithelial(49;0.167)							D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Translation_Start_Site	SNP	ENST00000378103.3	37		CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300167	0.60195	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.08	6.08	0.98989	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.418321	0.27881	N	0.017465	T	0.62816	0.2459	M	0.79805	2.47	0.53688	D	0.999975	P;P;P	0.48694	0.634;0.914;0.684	B;P;B	0.48488	0.277;0.579;0.398	T	0.63010	-0.6732	9	0.30078	T	0.28	-15.9146	7.443	0.27194	0.1413:0.7249:0.0:0.1339	.	666;660;660	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	N	660;660;666	.	ENSP00000367334:K660N	K	-	3	2	GBA2	35728597	0.997000	0.39634	1.000000	0.80357	0.867000	0.49689	0.549000	0.23329	2.894000	0.99253	0.655000	0.94253	AAG		0.517	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		9	66	1	0	0.38729	1	0.388839	9	66				
KLF3	51274	broad.mit.edu	37	4	38690303	38690303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38690303G>A	ENST00000261438.5	+	3	460	c.155G>A	c.(154-156)gGt>gAt	p.G52D	KLF3_ENST00000514033.1_Missense_Mutation_p.G52D	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	52	Pro-rich.|Repressor domain.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCCAGAAGGTCTGTCGCAC	0.517																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(154-156)gGt>gAt		Kruppel-like factor 3 (basic)							72.0	67.0	69.0					4																	38690303		2203	4300	6503	SO:0001583	missense	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38690303G>A	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.155G>A	4.37:g.38690303G>A	ENSP00000261438:p.Gly52Asp					KLF3_ENST00000514033.1_Missense_Mutation_p.G52D	p.G52D	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			3	460	+			52			Pro-rich.|Repressor domain.		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	c.155G>A	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454205	0.63290	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	T;T	0.51574	2.92;0.7	6.07	3.42	0.39159	.	0.276491	0.36591	N	0.002512	T	0.29126	0.0724	N	0.19112	0.55	0.38077	D	0.936566	B	0.06786	0.001	B	0.04013	0.001	T	0.08330	-1.0727	10	0.35671	T	0.21	.	7.2961	0.26393	0.0622:0.2302:0.5878:0.1198	.	52	P57682	KLF3_HUMAN	D	52	ENSP00000261438:G52D;ENSP00000421252:G52D	ENSP00000261438:G52D	G	+	2	0	KLF3	38366698	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	3.032000	0.49736	0.437000	0.26423	0.655000	0.94253	GGT		0.517	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			6	48	0	0	0	1	0	6	48				
HSPA12A	259217	broad.mit.edu	37	10	118441355	118441355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118441355C>T	ENST00000369209.3	-	8	973	c.869G>A	c.(868-870)cGg>cAg	p.R290Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	290						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAAAAAGGTCCGACTCTGCCG	0.473											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(868-870)cGg>cAg		heat shock 70kDa protein 12A							111.0	107.0	108.0					10																	118441355		1950	4137	6087	SO:0001583	missense	259217						ATP binding	g.chr10:118441355C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.869G>A	10.37:g.118441355C>T	ENSP00000358211:p.Arg290Gln		OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1488		p.R290Q	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	8	973	-			290						Missense_Mutation	SNP	ENST00000369209.3	37	c.869G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558035	0.96514	.	.	ENSG00000165868	ENST00000369209	T	0.46451	0.87	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.63409	-0.6644	10	0.33940	T	0.23	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	290	O43301	HS12A_HUMAN	Q	290	ENSP00000358211:R290Q	ENSP00000358211:R290Q	R	-	2	0	HSPA12A	118431345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.865000	0.98341	0.655000	0.94253	CGG		0.473	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		21	37	0	0	0	1	0	21	37				
ZNHIT6	54680	broad.mit.edu	37	1	86173468	86173468	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173468A>G	ENST00000370574.3	-	1	633	c.500T>C	c.(499-501)tTt>tCt	p.F167S	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.F128S			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	167	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TTGACCAACAAACTTCTCCTC	0.398																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(382-384)tTt>tCt		zinc finger, HIT-type containing 6							285.0	266.0	273.0					1																	86173468		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173468A>G	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.500T>C	1.37:g.86173468A>G	ENSP00000359606:p.Phe167Ser					ZNHIT6_ENST00000370574.3_Missense_Mutation_p.F167S	p.F128S	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			2	531	-			167			Glu-rich.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.383T>C	CCDS707.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269446	0.23221	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.55588	0.9;0.51	4.31	0.312	0.15837	.	0.851743	0.10034	N	0.724343	T	0.13157	0.0319	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.29731	-1.0002	10	0.25106	T	0.35	0.004	5.7663	0.18229	0.5868:0.3214:0.0918:0.0	.	128;167	B4DP13;Q9NWK9	.;BCD1_HUMAN	S	128;167	ENSP00000414344:F128S;ENSP00000359606:F167S	ENSP00000359606:F167S	F	-	2	0	ZNHIT6	85946056	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.522000	0.22909	-0.047000	0.13423	0.402000	0.26972	TTT		0.398	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		16	316	0	0	0	1	0	16	316				
CTDSP1	58190	broad.mit.edu	37	2	219268072	219268072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219268072C>T	ENST00000273062.2	+	6	925	c.589C>T	c.(589-591)Cga>Tga	p.R197*	CTDSP1_ENST00000488627.1_3'UTR|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000443891.1_Nonsense_Mutation_p.R196*	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	197	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGTTGGGTCGAGACCTGCG	0.622																																						ENST00000273062.2																			0				NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(589-591)Cga>Tga		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1							64.0	73.0	70.0					2																	219268072		2203	4300	6503	SO:0001587	stop_gained	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219268072C>T	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.589C>T	2.37:g.219268072C>T	ENSP00000273062:p.Arg197*					CTDSP1_ENST00000443891.1_Nonsense_Mutation_p.R196*|CTDSP1_ENST00000488627.1_3'UTR	p.R197*	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	925	+		Renal(207;0.0915)	197			FCP1 homology.		C9IYG0|Q7Z5Q3|Q7Z5Q4	Nonsense_Mutation	SNP	ENST00000273062.2	37	c.589C>T	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763764	0.69878	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	.	.	.	4.64	3.75	0.43078	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.2377	11.158	0.48499	0.3339:0.6661:0.0:0.0	.	.	.	.	X	196;197	.	ENSP00000273062:R197X	R	+	1	2	CTDSP1	218976316	0.995000	0.38212	0.999000	0.59377	0.885000	0.51271	3.073000	0.50057	0.935000	0.37341	-0.448000	0.05591	CGA		0.622	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		10	20	0	0	0	1	0	10	20				
ZNF607	84775	broad.mit.edu	37	19	38190099	38190099	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38190099G>A	ENST00000355202.4	-	5	1528	c.933C>T	c.(931-933)tgC>tgT	p.C311C	ZNF607_ENST00000395835.3_Silent_p.C310C|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CGCATTCCTTGCATTCATAGG	0.413																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(931-933)tgC>tgT		zinc finger protein 607							107.0	108.0	108.0					19																	38190099		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190099G>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.933C>T	19.37:g.38190099G>A						CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C310C	p.C311C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1528	-			311					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.933C>T	CCDS33006.1																																																																																				0.413	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		59	86	0	0	0	1	0	59	86				
ZPBP2	124626	broad.mit.edu	37	17	38029311	38029311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38029311C>A	ENST00000348931.4	+	6	831	c.640C>A	c.(640-642)Ccg>Acg	p.P214T	ZPBP2_ENST00000377940.3_Missense_Mutation_p.P192T|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P141T	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	214					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCTTTTGCGCCGGGGTGGAA	0.388																																						ENST00000377940.3																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(574-576)Ccg>Acg		zona pellucida binding protein 2							126.0	113.0	117.0					17																	38029311		2203	4300	6503	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38029311C>A	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.640C>A	17.37:g.38029311C>A	ENSP00000335384:p.Pro214Thr					ZPBP2_ENST00000348931.4_Missense_Mutation_p.P214T|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P141T	p.P192T	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	713	+	Colorectal(19;0.000442)		214					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.574C>A	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030532	0.19512	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.50548	0.74;0.74	5.67	4.67	0.58626	.	0.198502	0.35407	N	0.003237	T	0.49643	0.1569	N	0.20530	0.585	0.26227	N	0.979066	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.979	T	0.37911	-0.9685	10	0.13853	T	0.58	-3.6968	14.6956	0.69118	0.0:0.8558:0.1442:0.0	.	192;214	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	T	214;192	ENSP00000335384:P214T;ENSP00000367174:P192T	ENSP00000335384:P214T	P	+	1	0	ZPBP2	35282837	0.477000	0.25909	0.695000	0.30226	0.610000	0.37248	1.473000	0.35387	2.673000	0.90976	0.557000	0.71058	CCG		0.388	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		4	46	1	0	3.59834e-05	1	4.01776e-05	4	46				
ILVBL	10994	broad.mit.edu	37	19	15234030	15234030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15234030G>A	ENST00000263383.3	-	4	501	c.362C>T	c.(361-363)aCa>aTa	p.T121I	ILVBL_ENST00000534378.1_Missense_Mutation_p.T14I|ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	121						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGGCCTGCTGTCACTGCCGC	0.612																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(361-363)aCa>aTa		ilvB (bacterial acetolactate synthase)-like							78.0	76.0	77.0					19																	15234030		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15234030G>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.362C>T	19.37:g.15234030G>A	ENSP00000263383:p.Thr121Ile					ILVBL_ENST00000534378.1_Missense_Mutation_p.T14I|ILVBL_ENST00000531635.1_5'UTR	p.T121I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			4	501	-			121					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.362C>T	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145457	0.57044	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.45276	0.9	4.52	4.52	0.55395	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80219	-0.1473	10	0.87932	D	0	-13.0745	14.7176	0.69280	0.0:0.0:1.0:0.0	.	121	A1L0T0	ILVBL_HUMAN	I	121	ENSP00000263383:T121I	ENSP00000263383:T121I	T	-	2	0	ILVBL	15095030	1.000000	0.71417	0.940000	0.37924	0.116000	0.19942	9.374000	0.97172	2.085000	0.62840	0.462000	0.41574	ACA		0.612	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		18	34	0	0	0	1	0	18	34				
ATP1B2	482	broad.mit.edu	37	17	7558002	7558002	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7558002G>T	ENST00000250111.4	+	5	1016	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	203	immunoglobulin-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GTGCTGGGAAGGTGAGTTCGT	0.502																																						ENST00000250111.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.e5+1		ATPase, Na+/K+ transporting, beta 2 polypeptide							260.0	209.0	226.0					17																	7558002		2203	4300	6503	SO:0001630	splice_region_variant	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7558002G>T	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.609+1G>T	17.37:g.7558002G>T							p.K203_splice	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	5	1016	+		all_cancers(10;0.000178)|Prostate(122;0.081)	203					A0AV17|A8K278|D3DTQ2|O60444	Splice_Site	SNP	ENST00000250111.4	37	c.609_splice	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021562	0.54576	.	.	ENSG00000129244	ENST00000250111	T	0.35421	1.31	4.35	4.35	0.52113	.	0.343440	0.28841	N	0.013975	T	0.49372	0.1553	M	0.83118	2.625	0.80722	D	1	B	0.31274	0.317	B	0.39660	0.306	T	0.56974	-0.7890	10	0.56958	D	0.05	-3.2644	14.4611	0.67450	0.0:0.0:1.0:0.0	.	203	P14415	AT1B2_HUMAN	N	203	ENSP00000250111:K203N	ENSP00000250111:K203N	K	+	3	2	ATP1B2	7498727	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.088000	0.57678	2.265000	0.75225	0.505000	0.49811	AAG		0.502	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678	Missense_Mutation	28	75	1	0	1.13719e-10	1	1.40515e-10	28	75				
NUF2	83540	broad.mit.edu	37	1	163315595	163315595	+	Missense_Mutation	SNP	G	G	T	rs375668189		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163315595G>T	ENST00000271452.3	+	11	1214	c.935G>T	c.(934-936)aGt>aTt	p.S312I	NUF2_ENST00000367900.3_Missense_Mutation_p.S312I|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	312	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATTAGCCAGTATCTTAAAG	0.328																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(934-936)aGt>aTt		NUF2, NDC80 kinetochore complex component							67.0	69.0	68.0					1																	163315595		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163315595G>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.935G>T	1.37:g.163315595G>T	ENSP00000271452:p.Ser312Ile					NUF2_ENST00000524800.1_Intron|NUF2_ENST00000367900.3_Missense_Mutation_p.S312I	p.S312I	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			11	1214	+	all_hematologic(923;0.101)		312			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.935G>T	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013374	0.19277	.	.	ENSG00000143228	ENST00000367900;ENST00000271452	T;T	0.32272	1.46;1.46	4.88	-1.62	0.08372	.	0.750508	0.14290	N	0.328967	T	0.07863	0.0197	L	0.44542	1.39	0.28218	N	0.926641	B	0.20671	0.047	B	0.16289	0.015	T	0.21075	-1.0256	9	0.41790	T	0.15	-1.1763	4.7967	0.13276	0.3389:0.3012:0.36:0.0	.	312	Q9BZD4	NUF2_HUMAN	I	312	ENSP00000356875:S312I;ENSP00000271452:S312I	ENSP00000271452:S312I	S	+	2	0	NUF2	161582219	0.000000	0.05858	0.001000	0.08648	0.864000	0.49448	-0.688000	0.05150	-0.524000	0.06400	0.591000	0.81541	AGT		0.328	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		6	66	1	0	2.0095e-06	1	2.31757e-06	6	66				
SYNM	23336	broad.mit.edu	37	15	99672813	99672813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672813C>T	ENST00000336292.6	+	5	4365	c.4245C>T	c.(4243-4245)caC>caT	p.H1415H	SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1416	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCTCTGAACACATTGCCATCC	0.522																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4243-4245)caC>caT		synemin, intermediate filament protein							215.0	211.0	212.0					15																	99672813		2015	4191	6206	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672813C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4245C>T	15.37:g.99672813C>T						SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	p.H1415H	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4365	+			1416			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000336292.6	37	c.4245C>T																																																																																					0.522	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		86	127	0	0	0	1	0	86	127				
MLH3	27030	broad.mit.edu	37	14	75514329	75514329	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75514329G>A	ENST00000556740.1	-	1	2065	c.2030C>T	c.(2029-2031)aCg>aTg	p.T677M	MLH3_ENST00000355774.2_Missense_Mutation_p.T677M|MLH3_ENST00000238662.7_Missense_Mutation_p.T677M|MLH3_ENST00000380968.2_De_novo_Start_InFrame|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.T677M			Q9UHC1	MLH3_HUMAN	mutL homolog 3	677					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTTATATTCGTTCTGCAATT	0.343								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(2029-2031)aCg>aTg	Mismatch excision repair (MMR)	mutL homolog 3							81.0	82.0	82.0					14																	75514329		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514329G>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2030C>T	14.37:g.75514329G>A	ENSP00000452316:p.Thr677Met					MLH3_ENST00000556257.1_Missense_Mutation_p.T677M|MLH3_ENST00000556740.1_Missense_Mutation_p.T677M|MLH3_ENST00000238662.7_Missense_Mutation_p.T677M|MLH3_ENST00000380968.2_De_novo_Start_InFrame	p.T677M	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2245	-			677					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2030C>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351268	0.41700	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.07	4.25	0.50352	.	0.531668	0.20532	N	0.090493	T	0.45856	0.1363	M	0.64997	1.995	0.19300	N	0.999976	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.828	T	0.33701	-0.9858	10	0.72032	D	0.01	0.0012	6.8591	0.24058	0.1416:0.0:0.7149:0.1435	.	677;677	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	M	677	ENSP00000348020:T677M;ENSP00000238662:T677M;ENSP00000451540:T677M;ENSP00000452316:T677M	ENSP00000238662:T677M	T	-	2	0	MLH3	74584082	0.761000	0.28439	0.401000	0.26359	0.825000	0.46686	2.543000	0.45752	0.887000	0.36136	0.655000	0.94253	ACG		0.343	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		38	52	0	0	0	1	0	38	52				
CXXC1	30827	broad.mit.edu	37	18	47809307	47809307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809307G>A	ENST00000285106.6	-	14	2455	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R585C|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000589940.1_Silent_p.A568A|MBD1_ENST00000588937.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	581					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTGGGCAGGCGGCAGAAGTCA	0.612																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1741-1743)Cgc>Tgc		CXXC finger protein 1							92.0	83.0	86.0					18																	47809307		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809307G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1741C>T	18.37:g.47809307G>A	ENSP00000285106:p.Arg581Cys					CXXC1_ENST00000412036.2_Missense_Mutation_p.R585C|CXXC1_ENST00000589940.1_Silent_p.A568A	p.R581C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			14	2455	-			581					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1741C>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579244	0.46006	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26660	1.73;1.72	4.2	4.2	0.49525	CpG binding protein, C-terminal (1);	0.066796	0.56097	D	0.000034	T	0.22781	0.0550	L	0.58428	1.81	0.80722	D	1	P;P;P	0.41131	0.694;0.739;0.487	B;B;B	0.34779	0.119;0.189;0.085	T	0.06232	-1.0838	10	0.62326	D	0.03	-5.6841	9.805	0.40789	0.0:0.0:0.7944:0.2056	.	585;581;448	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	C	581;585	ENSP00000285106:R581C;ENSP00000390475:R585C	ENSP00000285106:R581C	R	-	1	0	CXXC1	46063305	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.569000	0.53827	2.033000	0.60031	0.453000	0.30009	CGC		0.612	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		4	25	0	0	0	1	0	4	25				
COQ2	27235	broad.mit.edu	37	4	84194771	84194771	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84194771C>A	ENST00000311469.4	-	3	570		c.e3-1		COQ2_ENST00000439031.2_Splice_Site|COQ2_ENST00000514935.1_Splice_Site|COQ2_ENST00000311461.7_Splice_Site	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase						cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				TTCTTGTAACCTTAAAACATA	0.393																																						ENST00000311469.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8						c.e3-1		coenzyme Q2 4-hydroxybenzoate polyprenyltransferase							128.0	132.0	130.0					4																	84194771		1835	4096	5931	SO:0001630	splice_region_variant	27235				glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity	g.chr4:84194771C>A		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.571-1G>T	4.37:g.84194771C>A						COQ2_ENST00000311461.7_Splice_Site|COQ2_ENST00000514935.1_Splice_Site|COQ2_ENST00000439031.2_Splice_Site		NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN			3	570	-		Hepatocellular(203;0.114)						O95331|Q1JQ78|Q684R2	Splice_Site	SNP	ENST00000311469.4	37		CCDS47090.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051844	0.75960	.	.	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6672	0.91495	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COQ2	84413795	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	7.456000	0.80751	2.779000	0.95612	0.591000	0.81541	.		0.393	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697	Intron	6	100	1	0	0.00307968	1	0.00325696	6	100				
NINL	22981	broad.mit.edu	37	20	25457246	25457246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457246G>A	ENST00000278886.6	-	17	2754	c.2681C>T	c.(2680-2682)gCc>gTc	p.A894V	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	894					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGGGCAGGGGCGGGGGCCGG	0.687																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2680-2682)gCc>gTc		ninein-like							6.0	9.0	8.0					20																	25457246		2001	4006	6007	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457246G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2681C>T	20.37:g.25457246G>A	ENSP00000278886:p.Ala894Val					NINL_ENST00000422516.1_Intron	p.A894V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	2754	-			894					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2681C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	8.139	0.784742	0.16189	.	.	ENSG00000101004	ENST00000278886	T	0.25912	1.77	2.16	-0.343	0.12632	.	2.725300	0.01020	N	0.003968	T	0.16085	0.0387	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.17501	-1.0367	10	0.41790	T	0.15	0.8932	1.8971	0.03260	0.2568:0.0:0.4437:0.2995	.	894	Q9Y2I6	NINL_HUMAN	V	894	ENSP00000278886:A894V	ENSP00000278886:A894V	A	-	2	0	NINL	25405246	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.457000	0.06745	-0.059000	0.13154	0.561000	0.74099	GCC		0.687	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		7	9	0	0	0	1	0	7	9				
LOXL2	4017	broad.mit.edu	37	8	23167278	23167278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23167278G>A	ENST00000389131.3	-	10	2152	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	595	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCAGGAGCCGGCGGTAGCCC	0.652																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1783-1785)Cgg>Tgg		lysyl oxidase-like 2							33.0	30.0	31.0					8																	23167278		2203	4299	6502	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167278G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1783C>T	8.37:g.23167278G>A	ENSP00000373783:p.Arg595Trp						p.R595W	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2152	-		Prostate(55;0.0453)|Breast(100;0.143)	595			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1783C>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457371	0.96240	.	.	ENSG00000134013	ENST00000389131	T	0.34072	1.38	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76537	-0.2923	10	0.87932	D	0	.	18.3462	0.90322	0.0:0.0:1.0:0.0	.	595;595	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	W	595	ENSP00000373783:R595W	ENSP00000373783:R595W	R	-	1	2	LOXL2	23223223	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.586000	0.67503	2.677000	0.91161	0.561000	0.74099	CGG		0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			6	15	0	0	0	1	0	6	15				
GRAMD1A	57655	broad.mit.edu	37	19	35510153	35510153	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35510153G>A	ENST00000317991.5	+	12	1464	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Silent_p.T511T|GRAMD1A_ENST00000411896.2_Silent_p.T417T|GRAMD1A_ENST00000504615.2_Silent_p.T190T	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	424						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGTGCTGACGTACACCATCC	0.682																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1531-1533)acG>acA		GRAM domain containing 1A							39.0	46.0	44.0					19																	35510153		2151	4257	6408	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35510153G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1272G>A	19.37:g.35510153G>A						GRAMD1A_ENST00000504615.2_Silent_p.T190T|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.T424T|GRAMD1A_ENST00000411896.2_Silent_p.T417T	p.T511T			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		13	1604	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		424					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1533G>A	CCDS42546.1																																																																																				0.682	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		9	25	0	0	0	1	0	9	25				
CHD1L	9557	broad.mit.edu	37	1	146736231	146736231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146736231G>T	ENST00000369258.4	+	7	747	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.E243*|CHD1L_ENST00000361293.5_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	243					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTGAGAAAGAATCTGAGTC	0.453																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(727-729)Gaa>Taa		chromodomain helicase DNA binding protein 1-like							82.0	79.0	80.0					1																	146736231		2203	4300	6503	SO:0001587	stop_gained	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146736231G>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.727G>T	1.37:g.146736231G>T	ENSP00000358262:p.Glu243*					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.E243*|CHD1L_ENST00000361293.5_Intron	p.E243*	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			7	747	+	all_hematologic(923;0.0487)		243					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Nonsense_Mutation	SNP	ENST00000369258.4	37	c.727G>T	CCDS927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.517909|4.517909	0.85495|0.85495	.|.	.|.	ENSG00000131778|ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230|ENST00000254086	.|.	.|.	.|.	5.27|5.27	3.39|3.39	0.38822|0.38822	.|.	0.271397|.	0.41294|.	D|.	0.000902|.	.|T	.|0.46425	.|0.1392	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45440	.|-0.9261	.|5	0.25106|0.41790	T|T	0.35|0.15	.|.	7.6956|7.6956	0.28592|0.28592	0.0887:0.164:0.7473:0.0|0.0887:0.164:0.7473:0.0	.|.	.|.	.|.	.|.	X|N	243;243;143|203	.|.	ENSP00000358262:E243X|ENSP00000254086:K203N	E|K	+|+	1|3	0|2	CHD1L|CHD1L	145202855|145202855	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.716000|0.716000	0.41182|0.41182	3.406000|3.406000	0.52637|0.52637	0.719000|0.719000	0.32188|0.32188	-0.142000|-0.142000	0.14014|0.14014	GAA|AAG		0.453	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		24	52	1	0	2.79863e-10	1	3.44159e-10	24	52				
HSF1	3297	broad.mit.edu	37	8	145535674	145535674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145535674C>T	ENST00000528838.1	+	9	1046	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	HSF1_ENST00000400780.4_Missense_Mutation_p.R231C|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	296	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCCCCTGGTGCGTGTCAAGGA	0.721																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(886-888)Cgt>Tgt		heat shock transcription factor 1							8.0	10.0	9.0					8																	145535674		2169	4250	6419	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535674C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.886C>T	8.37:g.145535674C>T	ENSP00000431512:p.Arg296Cys					HSF1_ENST00000400780.4_Missense_Mutation_p.R231C	p.R296C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		9	1046	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		296			Regulatory domain.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.886C>T	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	c	13.53	2.263712	0.39995	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.66	2.54	0.30619	Vertebrate heat shock transcription factor (1);	0.572973	0.19166	N	0.121078	T	0.41119	0.1145	M	0.63428	1.95	0.09310	N	0.999999	B	0.15473	0.013	B	0.12156	0.007	T	0.32428	-0.9907	9	0.38643	T	0.18	-8.4284	6.9708	0.24648	0.1354:0.7214:0.0:0.1432	.	296	Q00613	HSF1_HUMAN	C	296;231	.	ENSP00000383590:R231C	R	+	1	0	HSF1	145506482	0.000000	0.05858	0.133000	0.22050	0.992000	0.81027	0.521000	0.22893	0.206000	0.20587	0.556000	0.70494	CGT		0.721	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		6	2	0	0	0	1	0	6	2				
EFCAB13	124989	broad.mit.edu	37	17	45425209	45425209	+	Nonsense_Mutation	SNP	C	C	T	rs201299500	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45425209C>T	ENST00000331493.2	+	9	964	c.553C>T	c.(553-555)Cga>Tga	p.R185*	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	185						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R185*(1)									TAGTAAAATTCGAAGTGGTAA	0.323													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17103	0.0		0.0	False		,,,				2504	0.0					ENST00000331493.2																			1	Substitution - Nonsense(1)	p.R185*(1)	large_intestine(1)								c.(553-555)Cga>Tga		EF-hand calcium binding domain 13		C	,stop/ARG	4,4398	8.1+/-20.4	0,4,2197	71.0	70.0	70.0		,553	2.5	0.8	17		70	0,8588		0,0,4294	yes	intron,stop-gained	C17orf57	NM_001195192.1,NM_152347.4	,	0,4,6491	TT,TC,CC		0.0,0.0909,0.0308	,	,185/974	45425209	4,12986	2201	4294	6495	SO:0001587	stop_gained	124989							g.chr17:45425209C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.553C>T	17.37:g.45425209C>T	ENSP00000332111:p.Arg185*					EFCAB13_ENST00000517484.1_Intron	p.R185*	NM_152347.4	NP_689560.3					9	964	+								G3V128|Q49AG9	Nonsense_Mutation	SNP	ENST00000331493.2	37	c.553C>T	CCDS11512.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.388548	0.98252	9.09E-4	0.0	ENSG00000178852	ENST00000331493	.	.	.	4.57	2.55	0.30701	.	0.364949	0.15838	N	0.242166	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4187	5.6423	0.17571	0.1936:0.7034:0.0:0.103	.	.	.	.	X	185	.	ENSP00000332111:R185X	R	+	1	2	C17orf57	42780208	0.912000	0.30974	0.776000	0.31678	0.994000	0.84299	2.057000	0.41365	0.358000	0.24211	0.650000	0.86243	CGA		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		15	33	0	0	0	1	0	15	33				
PSAT1	29968	broad.mit.edu	37	9	80921249	80921249	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80921249C>A	ENST00000376588.3	+	5	485	c.417C>A	c.(415-417)acC>acA	p.T139T	PSAT1_ENST00000347159.2_Silent_p.T139T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	139					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						ATCCAAGCACCTGGAACCTCA	0.463																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(415-417)acC>acA		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						217.0	208.0	211.0					9																	80921249		2203	4300	6503	SO:0001819	synonymous_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921249C>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.417C>A	9.37:g.80921249C>A						PSAT1_ENST00000347159.2_Silent_p.T139T	p.T139T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			5	485	+			139					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.417C>A	CCDS6660.1																																																																																				0.463	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		29	259	1	0	8.58068e-18	1	1.11523e-17	29	259				
CP	1356	broad.mit.edu	37	3	148928055	148928055	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148928055T>C	ENST00000264613.6	-	3	768	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	169	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCCATCTCCTTCCCCAGGACT	0.408																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(505-507)gAa>gGa		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						210.0	182.0	191.0					3																	148928055		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148928055T>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.506A>G	3.37:g.148928055T>C	ENSP00000264613:p.Glu169Gly						p.E169G	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		3	768	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	169			F5/8 type A 1.|Plastocyanin-like 1.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.506A>G	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909431	0.33721	.	.	ENSG00000047457	ENST00000264613	D	0.98792	-5.14	5.8	-1.35	0.09114	Cupredoxin (2);Multicopper oxidase, type 3 (1);	1.119980	0.06424	N	0.722956	D	0.96244	0.8775	L	0.58510	1.815	0.09310	N	1	B;B	0.29115	0.151;0.233	B;B	0.25506	0.061;0.061	D	0.90665	0.4593	10	0.33940	T	0.23	-2.7718	3.4728	0.07574	0.4039:0.0621:0.1042:0.4298	.	169;169	A8K5A4;P00450	.;CERU_HUMAN	G	169	ENSP00000264613:E169G	ENSP00000264613:E169G	E	-	2	0	CP	150410745	0.001000	0.12720	0.000000	0.03702	0.287000	0.27160	1.119000	0.31258	0.104000	0.17725	0.455000	0.32223	GAA		0.408	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		12	98	0	0	0	1	0	12	98				
CYP2B7P	1556	broad.mit.edu	37	19	41430189	41430189	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41430189C>T	ENST00000599198.1	+	0	66					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGGAGCTCAGCGTCCTCCTCT	0.587																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														0							g.chr19:41430189C>T																													19.37:g.41430189C>T								NR_001278.1						0	66	+									RNA	SNP	ENST00000599198.1	37																																																																																						0.587	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			16	28	0	0	0	1	0	16	28				
GOLGB1	2804	broad.mit.edu	37	3	121396201	121396201	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121396201C>A	ENST00000340645.5	-	16	9080	c.8955G>T	c.(8953-8955)caG>caT	p.Q2985H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q2990H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2985					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATAAGATTCTGCAGATGAC	0.428																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8968-8970)caG>caT		golgin B1							156.0	150.0	152.0					3																	121396201		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121396201C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8955G>T	3.37:g.121396201C>A	ENSP00000341848:p.Gln2985His					GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2985H	p.Q2990H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	16	9080	-			2985					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8970G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224215	0.39300	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.18657	2.2;2.2	5.36	3.52	0.40303	.	0.119890	0.37857	N	0.001910	T	0.29389	0.0732	L	0.29908	0.895	0.30993	N	0.721219	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.85130	0.997;0.994;0.964	T	0.12734	-1.0536	10	0.51188	T	0.08	.	7.4828	0.27415	0.0:0.7995:0.0:0.2005	.	2990;2990;2985	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	H	2985;2990	ENSP00000341848:Q2985H;ENSP00000377275:Q2990H	ENSP00000341848:Q2985H	Q	-	3	2	GOLGB1	122878891	0.998000	0.40836	0.982000	0.44146	0.935000	0.57460	0.751000	0.26348	0.775000	0.33450	0.650000	0.86243	CAG		0.428	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		6	95	1	0	3.09899e-07	1	3.63227e-07	6	95				
DYM	54808	broad.mit.edu	37	18	46570554	46570554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46570554G>A	ENST00000269445.6	-	17	2338	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	DYM_ENST00000442713.2_Silent_p.F437F|RP11-15F12.1_ENST00000584252.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	627					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CCACATATTTGAATTTCAATT	0.433																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1879-1881)ttC>ttT		dymeclin							88.0	100.0	96.0					18																	46570554		2203	4300	6503	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46570554G>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1881C>T	18.37:g.46570554G>A						RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Silent_p.F437F	p.F627F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			17	2338	-			627					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.1881C>T	CCDS11937.1																																																																																				0.433	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		45	86	0	0	0	1	0	45	86				
HERC2	8924	broad.mit.edu	37	15	28389916	28389916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28389916G>A	ENST00000261609.7	-	72	11151	c.11043C>T	c.(11041-11043)cgC>cgT	p.R3681R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCTGGGATGCGCAGCTCGC	0.572																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11041-11043)cgC>cgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							85.0	70.0	75.0					15																	28389916		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389916G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11043C>T	15.37:g.28389916G>A							p.R3681R	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	72	11151	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3681						Silent	SNP	ENST00000261609.7	37	c.11043C>T	CCDS10021.1																																																																																				0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		13	22	0	0	0	1	0	13	22				
PLSCR2	57047	broad.mit.edu	37	3	146171805	146171805	+	Missense_Mutation	SNP	G	G	A	rs375128168		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146171805G>A	ENST00000497985.1	-	7	1125	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A156V	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	229					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.A156E(1)|p.A156V(1)|p.A229E(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAACACCCGCAATACAGCT	0.323																																						ENST00000497985.1																			3	Substitution - Missense(3)	p.A156E(1)|p.A156V(1)|p.A229E(1)	endometrium(2)|large_intestine(1)	endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(685-687)gCg>gTg		phospholipid scramblase 2		G	VAL/ALA,VAL/ALA	1,4405		0,1,2202	123.0	118.0	120.0		686,674	-6.5	0.0	3		120	0,8600		0,0,4300	no	missense,missense	PLSCR2	NM_001199978.1,NM_001199979.1	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	229/298,225/294	146171805	1,13005	2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146171805G>A		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.686C>T	3.37:g.146171805G>A	ENSP00000420132:p.Ala229Val					PLSCR2_ENST00000336685.2_Missense_Mutation_p.A156V	p.A229V	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			7	1125	-			156					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.686C>T	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428260	0.25726	2.27E-4	0.0	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.21734	1.99;1.99;1.99	3.64	-6.48	0.01896	.	0.176775	0.22413	U	0.060385	T	0.16685	0.0401	L	0.52364	1.645	0.09310	N	1	P;P	0.47484	0.896;0.489	B;B	0.43445	0.42;0.196	T	0.06445	-1.0826	10	0.30078	T	0.28	.	12.4847	0.55866	0.0:0.5673:0.199:0.2336	.	249;156	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	V	156;248;229;156	ENSP00000338707:A156V;ENSP00000420132:A229V;ENSP00000418444:A156V	ENSP00000338707:A156V	A	-	2	0	PLSCR2	147654495	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.183000	0.01255	-1.759000	0.01313	-0.467000	0.05162	GCG		0.323	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		36	42	0	0	0	1	0	36	42				
ST8SIA5	29906	broad.mit.edu	37	18	44260099	44260099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260099C>T	ENST00000315087.7	-	7	1697	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382D|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315D|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	346					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGCGTGGAAGCCGGGACGCGG	0.607																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(1036-1038)gGc>gAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							111.0	116.0	115.0					18																	44260099		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260099C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.1037G>A	18.37:g.44260099C>T	ENSP00000321343:p.Gly346Asp					ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315D|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382D	p.G346D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1697	-			346					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.1037G>A	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334813	0.81801	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.30448	1.53;1.53;1.53	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.72624	2.21	0.80722	D	1	D;P;D	0.89917	1.0;0.467;1.0	D;P;D	0.97110	1.0;0.451;0.991	T	0.56902	-0.7902	10	0.49607	T	0.09	-10.2943	19.1205	0.93362	0.0:1.0:0.0:0.0	.	315;382;346	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	D	346;382;315	ENSP00000321343:G346D;ENSP00000445492:G382D;ENSP00000443683:G315D	ENSP00000321343:G346D	G	-	2	0	ST8SIA5	42514097	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	7.818000	0.86416	2.584000	0.87258	0.561000	0.74099	GGC		0.607	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		40	61	0	0	0	1	0	40	61				
PLA2G4C	8605	broad.mit.edu	37	19	48565309	48565309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48565309C>T	ENST00000599921.1	-	14	1560	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	PLA2G4C_ENST00000354276.3_Silent_p.T401T|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599111.1_Silent_p.T411T|CTD-2265M8.2_ENST00000601950.1_RNA|CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000413144.2_Silent_p.T401T|PLA2G4C_ENST00000596510.1_5'UTR			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	401	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAACCTCCCGCGTCGGGGGCA	0.607																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(1201-1203)acG>acA		phospholipase A2, group IVC (cytosolic, calcium-independent)							88.0	78.0	81.0					19																	48565309		2203	4300	6503	SO:0001819	synonymous_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48565309C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1203G>A	19.37:g.48565309C>T						PLA2G4C_ENST00000413144.2_Silent_p.T401T|PLA2G4C_ENST00000599921.1_Silent_p.T401T|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Silent_p.T411T|CTD-2265M8.2_ENST00000601548.1_RNA|CTD-2265M8.2_ENST00000596552.1_RNA|CTD-2265M8.2_ENST00000601950.1_RNA	p.T401T	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	14	1530	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	401			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	c.1203G>A	CCDS12710.1																																																																																				0.607	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			11	77	0	0	0	1	0	11	77				
CFH	3075	broad.mit.edu	37	1	196654269	196654269	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196654269A>C	ENST00000359637.2	+	6	736	c.674A>C	c.(673-675)gAa>gCa	p.E225A	CFH_ENST00000367429.4_Missense_Mutation_p.E289A|CFH_ENST00000439155.2_Missense_Mutation_p.E289A			P08603	CFAH_HUMAN	complement factor H	289	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGGAGATGAAATCACGTAC	0.388																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(865-867)gAa>gCa		complement factor H							122.0	113.0	116.0					1																	196654269		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196654269A>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.674A>C	1.37:g.196654269A>C	ENSP00000352658:p.Glu225Ala					CFH_ENST00000439155.2_Missense_Mutation_p.E289A|CFH_ENST00000359637.2_Missense_Mutation_p.E225A	p.E289A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			7	1106	+			289			Sushi 5.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.866A>C		.	.	.	.	.	.	.	.	.	.	A	8.819	0.937091	0.18206	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64991	-0.13;-0.13;-0.13	5.11	2.64	0.31445	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.56156	0.1966	L	0.42245	1.32	0.25614	N	0.98647	P;B;P;B	0.41265	0.744;0.324;0.562;0.175	P;B;B;B	0.48795	0.59;0.065;0.221;0.065	T	0.42207	-0.9465	9	0.13108	T	0.6	.	5.4989	0.16817	0.6442:0.1817:0.0:0.1741	.	225;289;289;289	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	A	289;289;289;225	ENSP00000356399:E289A;ENSP00000402656:E289A;ENSP00000352658:E225A	ENSP00000352658:E225A	E	+	2	0	CFH	194920892	0.001000	0.12720	0.484000	0.27391	0.429000	0.31625	-0.364000	0.07583	0.218000	0.20820	0.477000	0.44152	GAA		0.388	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		68	76	0	0	0	1	0	68	76				
FOXC1	2296	broad.mit.edu	37	6	1610942	1610942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1610942A>G	ENST00000380874.2	+	1	262	c.262A>G	c.(262-264)Acc>Gcc	p.T88A		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	88					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGCGCTCATCACCATGGCCAT	0.632																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(262-264)Acc>Gcc		forkhead box C1							88.0	93.0	92.0					6																	1610942		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1610942A>G	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.262A>G	6.37:g.1610942A>G	ENSP00000370256:p.Thr88Ala						p.T88A	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	262	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	88					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.262A>G	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	a	13.75	2.329147	0.41197	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.95554	-3.74	3.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000001	T	0.80686	0.4670	N	0.00608	-1.33	0.80722	D	1	B	0.27140	0.169	B	0.41236	0.351	T	0.77451	-0.2583	10	0.23891	T	0.37	.	12.605	0.56519	1.0:0.0:0.0:0.0	.	88	Q12948	FOXC1_HUMAN	A	88	ENSP00000370256:T88A	ENSP00000370256:T88A	T	+	1	0	FOXC1	1555941	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.372000	0.59530	1.501000	0.48654	0.375000	0.23000	ACC		0.632	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			16	42	0	0	0	1	0	16	42				
ROBO2	6092	broad.mit.edu	37	3	77600087	77600087	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600087C>A	ENST00000461745.1	+	8	2078	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	ROBO2_ENST00000487694.3_Missense_Mutation_p.A409D|ROBO2_ENST00000332191.8_Missense_Mutation_p.A393D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	393	Ig-like C2-type 4.				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)		ATCTGCCAGGCTTTAACTGTG	0.443																																						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.(1177-1179)gCt>gAt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							71.0	69.0	70.0					3																	77600087		1916	4137	6053	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.chr3:77600087C>A	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.1178C>A	3.37:g.77600087C>A	ENSP00000417164:p.Ala393Asp					ROBO2_ENST00000332191.8_Missense_Mutation_p.A393D|ROBO2_ENST00000487694.3_Missense_Mutation_p.A409D	p.A393D	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)	8	2078	+			393			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1178C>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651709	0.88056	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.76968	-1.06;-1.06;-1.06	5.49	5.49	0.81192	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000350	D	0.93612	0.7960	H	0.98951	4.38	0.47183	D	0.999342	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95790	0.8824	9	0.87932	D	0	.	19.7188	0.96134	0.0:1.0:0.0:0.0	.	409;393;393	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	D	409;409;413;393;393;114	ENSP00000417335:A409D;ENSP00000417164:A393D;ENSP00000327536:A393D	ENSP00000327536:A393D	A	+	2	0	ROBO2	77682777	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	7.776000	0.85560	2.742000	0.94016	0.591000	0.81541	GCT		0.443	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		23	36	1	0	3.83957e-06	1	4.40386e-06	23	36				
UBQLN2	29978	broad.mit.edu	37	X	56590893	56590893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56590893C>T	ENST00000338222.5	+	1	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	196					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(586-588)tCg>tTg		ubiquilin 2							81.0	77.0	79.0					X																	56590893		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590893C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.587C>T	X.37:g.56590893C>T	ENSP00000345195:p.Ser196Leu						p.S196L	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	868	+			196					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.587C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580204	0.65992	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80393	-1.37	4.63	4.63	0.57726	Heat shock chaperonin-binding (1);	0.000000	0.64402	D	0.000016	D	0.91985	0.7461	H	0.95365	3.66	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	P;D	0.69307	0.778;0.963	D	0.94112	0.7372	10	0.87932	D	0	-4.4721	14.1438	0.65336	0.0:1.0:0.0:0.0	.	196;196	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	L	196	ENSP00000345195:S196L	ENSP00000345195:S196L	S	+	2	0	UBQLN2	56607618	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.879000	0.69690	2.302000	0.77476	0.600000	0.82982	TCG		0.473	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		35	44	0	0	0	1	0	35	44				
ZNF222	7673	broad.mit.edu	37	19	44536092	44536092	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44536092A>T	ENST00000187879.8	+	4	427	c.265A>T	c.(265-267)Agt>Tgt	p.S89C	ZNF222_ENST00000391960.3_Missense_Mutation_p.S129C|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TACCACCATAAGTAACTCTCA	0.403																																						ENST00000187879.8																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(265-267)Agt>Tgt		zinc finger protein 222							108.0	106.0	107.0					19																	44536092		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536092A>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.265A>T	19.37:g.44536092A>T	ENSP00000187879:p.Ser89Cys					ZNF222_ENST00000391960.3_Missense_Mutation_p.S129C|ZNF223_ENST00000591793.1_Intron	p.S89C	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN			4	427	+		Prostate(69;0.0435)	89					G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.265A>T	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000603	0.35320	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.06294	3.32;3.35	2.14	2.14	0.27477	.	.	.	.	.	T	0.06142	0.0159	N	0.14661	0.345	0.09310	N	1	P;P	0.52842	0.956;0.926	P;B	0.52267	0.694;0.371	T	0.34104	-0.9842	9	0.54805	T	0.06	.	3.9055	0.09180	0.8167:0.0:0.1833:0.0	.	129;89	G5E9B9;Q9UK12	.;ZN222_HUMAN	C	129;89;35	ENSP00000375822:S129C;ENSP00000187879:S89C	ENSP00000187879:S89C	S	+	1	0	ZNF222	49227932	0.012000	0.17670	0.002000	0.10522	0.180000	0.23129	2.497000	0.45354	1.208000	0.43306	0.172000	0.16884	AGT		0.403	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			42	53	0	0	0	1	0	42	53				
LINGO2	158038	broad.mit.edu	37	9	27949356	27949356	+	Silent	SNP	C	C	T	rs200772912		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949356C>T	ENST00000379992.2	-	6	1763	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	LINGO2_ENST00000308675.3_Silent_p.P438P	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCACAGGCTGCGGGTCTCCAT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19093	0.001		0.0	False		,,,				2504	0.0					ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1312-1314)ccG>ccA		leucine rich repeat and Ig domain containing 2							77.0	70.0	72.0					9																	27949356		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27949356C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1314G>A	9.37:g.27949356C>T						LINGO2_ENST00000308675.3_Silent_p.P438P	p.P438P	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1763	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	438			Ig-like C2-type.		A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.1314G>A	CCDS6524.1																																																																																				0.517	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		4	47	0	0	0	1	0	4	47				
STRIP2	57464	broad.mit.edu	37	7	129091500	129091500	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129091500C>A	ENST00000249344.2	+	4	361	c.321C>A	c.(319-321)gcC>gcA	p.A107A	STRIP2_ENST00000435494.2_Silent_p.A107A	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	107					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CCCAAAAGGCCTATATAATGG	0.552																																						ENST00000249344.2																			0											c.(319-321)gcC>gcA		striatin interacting protein 2							94.0	89.0	91.0					7																	129091500		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129091500C>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.321C>A	7.37:g.129091500C>A						STRIP2_ENST00000435494.2_Silent_p.A107A	p.A107A	NM_020704.2	NP_065755.1					4	361	+								Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.321C>A	CCDS34752.1																																																																																				0.552	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		20	66	1	0	8.10497e-08	1	9.61437e-08	20	66				
CDON	50937	broad.mit.edu	37	11	125873880	125873880	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125873880G>T	ENST00000392693.3	-	10	2070	c.1943C>A	c.(1942-1944)tCt>tAt	p.S648Y	CDON_ENST00000263577.7_Missense_Mutation_p.S648Y|CDON_ENST00000531738.1_Missense_Mutation_p.S25Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	648	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATAAAGACTAGATGGCTCCAG	0.537																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1942-1944)tCt>tAt		cell adhesion associated, oncogene regulated							87.0	75.0	79.0					11																	125873880		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125873880G>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1943C>A	11.37:g.125873880G>T	ENSP00000376458:p.Ser648Tyr					CDON_ENST00000263577.7_Missense_Mutation_p.S648Y|CDON_ENST00000531738.1_Missense_Mutation_p.S25Y	p.S648Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	10	2070	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	648			Fibronectin type-III 1.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.1943C>A	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563736	0.86335	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.57436	0.4;3.62;0.4	5.93	5.93	0.95920	Fibronectin, type III (4);	0.135525	0.34067	N	0.004281	T	0.73776	0.3630	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.87578	0.998;0.996;0.961	T	0.72007	-0.4420	10	0.49607	T	0.09	-17.1122	20.3409	0.98764	0.0:0.0:1.0:0.0	.	648;648;25	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	Y	648;25;648	ENSP00000376458:S648Y;ENSP00000432901:S25Y;ENSP00000263577:S648Y	ENSP00000263577:S648Y	S	-	2	0	CDON	125379090	1.000000	0.71417	0.036000	0.18154	0.894000	0.52154	7.583000	0.82559	2.814000	0.96858	0.655000	0.94253	TCT		0.537	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		5	46	1	0	2.7689e-08	1	3.31013e-08	5	46				
DHX34	9704	broad.mit.edu	37	19	47865951	47865951	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47865951G>A	ENST00000328771.4	+	6	1942		c.e6+1		DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34						negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGTGCTGCAGGTGAGGCATGG	0.502																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e6+1		DEAH (Asp-Glu-Ala-His) box polypeptide 34							17.0	17.0	17.0					19																	47865951		2182	4255	6437	SO:0001630	splice_region_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47865951G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1593+1G>A	19.37:g.47865951G>A						DHX34_ENST00000471451.1_Intron		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	6	1942	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)						B4DMY8	Splice_Site	SNP	ENST00000328771.4	37		CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542078	0.65198	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2129	0.89876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX34	52557795	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	9.357000	0.97099	2.601000	0.87937	0.561000	0.74099	.		0.502	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	Intron	3	19	0	0	0	1	0	3	19				
NCKAP5L	57701	broad.mit.edu	37	12	50190545	50190545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50190545C>T	ENST00000335999.6	-	8	1299	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	362	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTGGGGGCGCCTGGTCTG	0.657																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1096-1098)gcG>gcA		NCK-associated protein 5-like							25.0	30.0	28.0					12																	50190545		1897	4092	5989	SO:0001819	synonymous_variant	57701							g.chr12:50190545C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1098G>A	12.37:g.50190545C>T							p.A366A	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	1299	-			362			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.1098G>A	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179668	0.38511	.	.	ENSG00000167566	ENST00000433948	.	.	.	3.36	-2.74	0.05932	.	0.202420	0.24864	N	0.034983	T	0.22551	0.0544	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.13872	-1.0493	6	0.39692	T	0.17	-7.3521	1.8344	0.03137	0.1478:0.3776:0.2892:0.1853	.	.	.	.	T	81	.	ENSP00000402619:A81T	A	-	1	0	NCKAP5L	48476812	0.000000	0.05858	0.808000	0.32385	0.931000	0.56810	-3.233000	0.00547	-0.802000	0.04421	0.462000	0.41574	GCC		0.657	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		14	24	0	0	0	1	0	14	24				
ZBTB41	360023	broad.mit.edu	37	1	197169499	197169499	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197169499G>T	ENST00000367405.4	-	1	173	c.105C>A	c.(103-105)acC>acA	p.T35T	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AATGAGTATAGGTCACTTGGT	0.423																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(103-105)acC>acA		zinc finger and BTB domain containing 41							104.0	107.0	106.0					1																	197169499		2203	4300	6503	SO:0001819	synonymous_variant	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169499G>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.105C>A	1.37:g.197169499G>T						ZBTB41_ENST00000467322.1_5'UTR	p.T35T	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	173	-			35					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Silent	SNP	ENST00000367405.4	37	c.105C>A	CCDS30960.1																																																																																				0.423	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		6	109	1	0	2.7689e-08	1	3.31013e-08	6	109				
ARHGAP31	57514	broad.mit.edu	37	3	119134498	119134498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119134498G>A	ENST00000264245.4	+	12	4254	c.3722G>A	c.(3721-3723)gGg>gAg	p.G1241E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1241					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAACCAGTGGGACCACTCAG	0.562																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3721-3723)gGg>gAg		Rho GTPase activating protein 31							45.0	53.0	50.0					3																	119134498		1929	4124	6053	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134498G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3722G>A	3.37:g.119134498G>A	ENSP00000264245:p.Gly1241Glu						p.G1241E	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	4254	+			1241					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3722G>A	CCDS43135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.019|0.019	-1.451781|-1.451781	0.01080|0.01080	.|.	.|.	ENSG00000031081|ENSG00000031081	ENST00000264245|ENST00000543280	T|.	0.05199|.	3.48|.	5.43|5.43	-1.62|-1.62	0.08372|0.08372	.|.	0.790059|0.790059	0.11629|0.11629	N|N	0.545006|0.545006	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.22541|.	0.071|.	B|.	0.17722|.	0.019|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|7	0.18710|0.54805	T|T	0.47|0.06	.|.	3.7789|3.7789	0.08673|0.08673	0.3464:0.0:0.3963:0.2573|0.3464:0.0:0.3963:0.2573	.|.	1241|.	Q2M1Z3|.	RHG31_HUMAN|.	E|R	1241|1037	ENSP00000264245:G1241E|.	ENSP00000264245:G1241E|ENSP00000442361:G1037R	G|G	+|+	2|1	0|0	ARHGAP31|ARHGAP31	120617188|120617188	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.358000|0.358000	0.29455|0.29455	-0.065000|-0.065000	0.11617|0.11617	-0.229000|-0.229000	0.09854|0.09854	0.563000|0.563000	0.77884|0.77884	GGG|GGA		0.562	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			11	18	0	0	0	1	0	11	18				
RARS2	57038	broad.mit.edu	37	6	88251665	88251665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88251665G>A	ENST00000369536.5	-	8	628	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	195					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GGATTGGACTGCAGTTTTTCC	0.358																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(583-585)Cag>Tag		arginyl-tRNA synthetase 2, mitochondrial							84.0	84.0	84.0					6																	88251665		2203	4300	6503	SO:0001587	stop_gained	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88251665G>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.583C>T	6.37:g.88251665G>A	ENSP00000358549:p.Gln195*						p.Q195*	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	8	628	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	195					B2RDT7|Q96FU5|Q9H8K8	Nonsense_Mutation	SNP	ENST00000369536.5	37	c.583C>T	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700882	0.88924	.	.	ENSG00000146282	ENST00000369536	.	.	.	5.85	4.95	0.65309	.	0.209202	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.716	0.46013	0.0:0.1215:0.6386:0.2399	.	.	.	.	X	195	.	ENSP00000358549:Q195X	Q	-	1	0	RARS2	88308384	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.531000	0.36018	2.770000	0.95276	0.563000	0.77884	CAG		0.358	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		19	48	0	0	0	1	0	19	48				
CRB3	92359	broad.mit.edu	37	19	6466504	6466504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6466504G>A	ENST00000598494.1	+	4	715	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CRB3_ENST00000600229.1_Missense_Mutation_p.V62M|CRB3_ENST00000308243.7_Missense_Mutation_p.V62M|CRB3_ENST00000356762.3_Missense_Mutation_p.V62M			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	62					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)			endometrium(1)|large_intestine(1)|lung(1)	3						TGCTATCATCGTGGTCTTCTC	0.627																																						ENST00000598494.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(184-186)Gtg>Atg		crumbs homolog 3 (Drosophila)							193.0	170.0	178.0					19																	6466504		2203	4300	6503	SO:0001583	missense	0				protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding	g.chr19:6466504G>A	AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"""crumbs homolog 3 (Drosophila)"""				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.184G>A	19.37:g.6466504G>A	ENSP00000469707:p.Val62Met					CRB3_ENST00000356762.3_Missense_Mutation_p.V62M|CRB3_ENST00000600229.1_Missense_Mutation_p.V62M|CRB3_ENST00000308243.7_Missense_Mutation_p.V62M	p.V62M			Q9BUF7	CRUM3_HUMAN			4	715	+			62					A8KA91|D6W643|Q8N0V8|Q8WVA0	Missense_Mutation	SNP	ENST00000598494.1	37	c.184G>A	CCDS12167.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070819	0.55539	.	.	ENSG00000130545	ENST00000356762;ENST00000308243	.	.	.	4.72	3.66	0.41972	.	0.295619	0.25520	N	0.030107	T	0.54695	0.1874	M	0.64404	1.975	0.27587	N	0.94939	D;D	0.76494	0.999;0.999	D;D	0.63192	0.912;0.912	T	0.47058	-0.9146	9	0.72032	D	0.01	-33.6729	9.4694	0.38833	0.1757:0.0:0.8243:0.0	.	62;62	Q9BUF7-2;Q9BUF7	.;CRUM3_HUMAN	M	62	.	ENSP00000310123:V62M	V	+	1	0	CRB3	6417504	0.011000	0.17503	0.984000	0.44739	0.435000	0.31806	0.977000	0.29475	2.349000	0.79799	0.585000	0.79938	GTG		0.627	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1			22	167	0	0	0	1	0	22	167				
COBL	23242	broad.mit.edu	37	7	51152918	51152918	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51152918A>G	ENST00000265136.7	-	7	1206	c.1041T>C	c.(1039-1041)agT>agC	p.S347S	COBL_ENST00000395540.2_Silent_p.S347S|COBL_ENST00000395542.2_Silent_p.S372S|COBL_ENST00000441453.1_Silent_p.S347S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	347	Pro-rich.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGATCAGGGGACTCGGTGGTG	0.572																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1114-1116)agT>agC		cordon-bleu WH2 repeat protein							173.0	124.0	140.0					7																	51152918		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51152918A>G	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1041T>C	7.37:g.51152918A>G						COBL_ENST00000395540.2_Silent_p.S347S|COBL_ENST00000441453.1_Silent_p.S347S|COBL_ENST00000265136.7_Silent_p.S347S	p.S372S			O75128	COBL_HUMAN			8	1300	-	Glioma(55;0.08)		311					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1116T>C	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	A	9.691	1.151789	0.21371	.	.	ENSG00000106078	ENST00000452534	T	0.53857	0.6	5.46	-4.32	0.03688	.	0.123423	0.37348	N	0.002139	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60198	-0.7310	7	0.44086	T	0.13	.	14.3185	0.66468	0.8721:0.0:0.1279:0.0	.	.	.	.	P	266	ENSP00000405059:S266P	ENSP00000405059:S266P	S	-	1	0	COBL	51120412	0.992000	0.36948	0.151000	0.22473	0.789000	0.44602	0.132000	0.15891	-0.792000	0.04480	-0.250000	0.11733	TCC		0.572	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		14	55	0	0	0	1	0	14	55				
APPL2	55198	broad.mit.edu	37	12	105570695	105570695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105570695G>T	ENST00000258530.3	-	19	1996	c.1771C>A	c.(1771-1773)Ctg>Atg	p.L591M	APPL2_ENST00000539978.2_Missense_Mutation_p.L548M|APPL2_ENST00000551662.1_Missense_Mutation_p.L597M|APPL2_ENST00000546731.1_5'Flank	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATGTACTCAGAGATTCTTCT	0.393																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1771-1773)Ctg>Atg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							143.0	138.0	140.0					12																	105570695		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105570695G>T	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1771C>A	12.37:g.105570695G>T	ENSP00000258530:p.Leu591Met					APPL2_ENST00000551662.1_Missense_Mutation_p.L597M|APPL2_ENST00000539978.2_Missense_Mutation_p.L548M	p.L591M	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			19	1996	-			591			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1771C>A	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397817	0.42512	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.69	4.8	0.61643	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.200613	0.44483	D	0.000459	T	0.17280	0.0415	L	0.29908	0.895	0.37962	D	0.932995	B;B	0.25521	0.128;0.093	B;B	0.32465	0.098;0.146	T	0.10965	-1.0607	10	0.39692	T	0.17	-15.4854	9.4966	0.38993	0.0754:0.0:0.7495:0.1751	.	597;591	F8W1P5;Q8NEU8	.;DP13B_HUMAN	M	591;548;597;122	ENSP00000258530:L591M;ENSP00000444472:L548M;ENSP00000446917:L597M;ENSP00000446510:L122M	ENSP00000258530:L591M	L	-	1	2	APPL2	104094825	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.176000	0.50863	1.416000	0.47057	0.650000	0.86243	CTG		0.393	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		44	65	1	0	9.39024e-22	1	1.23681e-21	44	65				
SVEP1	79987	broad.mit.edu	37	9	113191537	113191537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113191537G>A	ENST00000401783.2	-	35	6029	c.5693C>T	c.(5692-5694)cCt>cTt	p.P1898L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1875L|SVEP1_ENST00000297826.5_5'Flank	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1898	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCACACACAGGAGGGGAATG	0.378																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5692-5694)cCt>cTt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							42.0	40.0	41.0					9																	113191537		1843	4093	5936	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113191537G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5693C>T	9.37:g.113191537G>A	ENSP00000384917:p.Pro1898Leu					SVEP1_ENST00000374469.1_Missense_Mutation_p.P1875L	p.P1898L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			35	6029	-			1898			Sushi 8.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5693C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175047	0.78564	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.77358	-1.09;-1.09	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.051730	0.85682	D	0.000000	D	0.91513	0.7320	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.92782	0.6241	10	0.49607	T	0.09	.	19.032	0.92961	0.0:0.0:1.0:0.0	.	1898	Q4LDE5	SVEP1_HUMAN	L	1898;1875	ENSP00000384917:P1898L;ENSP00000363593:P1875L	ENSP00000363593:P1875L	P	-	2	0	SVEP1	112231358	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.593000	0.74100	2.567000	0.86603	0.650000	0.86243	CCT		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	4	0	0	0	1	0	3	4				
ARRB2	409	broad.mit.edu	37	17	4619471	4619471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4619471C>A	ENST00000269260.2	+	4	378	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000575877.1_Missense_Mutation_p.L49M|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Intron|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.L49M	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	49					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCTGACTACCTGAAGGACCG	0.632																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(145-147)Ctg>Atg		arrestin, beta 2							114.0	114.0	114.0					17																	4619471		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619471C>A		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.145C>A	17.37:g.4619471C>A	ENSP00000269260:p.Leu49Met					ARRB2_ENST00000346341.2_Intron|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.L49M|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.L49M	p.L49M	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			4	378	+			49					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.145C>A	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228034	0.58777	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000412477	T	0.29397	1.57	4.5	2.07	0.26955	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.64402	D	0.000011	T	0.51007	0.1649	M	0.82716	2.605	0.80722	D	1	D;D;D	0.71674	0.998;0.977;0.993	D;D;D	0.77004	0.989;0.93;0.981	T	0.50039	-0.8874	10	0.66056	D	0.02	-9.0536	5.5496	0.17083	0.0:0.3833:0.0:0.6167	.	49;49;49	B4DLW0;P32121-3;P32121	.;.;ARRB2_HUMAN	M	49;49;50	ENSP00000269260:L49M	ENSP00000269260:L49M	L	+	1	2	ARRB2	4566220	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.333000	0.43912	0.757000	0.33036	-0.253000	0.11424	CTG		0.632	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		4	100	1	0	0.0215528	1	0.0221649	4	100				
XPO4	64328	broad.mit.edu	37	13	21395934	21395934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:21395934G>A	ENST00000255305.6	-	9	1153	c.1082C>T	c.(1081-1083)aCt>aTt	p.T361I	XPO4_ENST00000400602.2_Missense_Mutation_p.T361I			Q9C0E2	XPO4_HUMAN	exportin 4	361					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGAATGGCAGTTAAAACATT	0.433																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1081-1083)aCt>aTt		exportin 4							121.0	120.0	120.0					13																	21395934		1945	4150	6095	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21395934G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1082C>T	13.37:g.21395934G>A	ENSP00000255305:p.Thr361Ile					XPO4_ENST00000255305.6_Missense_Mutation_p.T361I	p.T361I	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	9	1117	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	361					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1082C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342827	0.24339	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.22336	1.96;1.96	5.59	5.59	0.84812	Armadillo-type fold (1);	0.043483	0.85682	D	0.000000	T	0.20820	0.0501	L	0.36672	1.1	0.58432	D	0.999995	B	0.10296	0.003	B	0.09377	0.004	T	0.02721	-1.1119	10	0.29301	T	0.29	0.0065	19.5961	0.95538	0.0:0.0:1.0:0.0	.	361	Q9C0E2	XPO4_HUMAN	I	361;231;361	ENSP00000383444:T361I;ENSP00000255305:T361I	ENSP00000255305:T361I	T	-	2	0	XPO4	20293934	1.000000	0.71417	0.992000	0.48379	0.097000	0.18754	7.496000	0.81526	2.630000	0.89119	0.563000	0.77884	ACT		0.433	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		19	31	0	0	0	1	0	19	31				
SULT6B1	391365	broad.mit.edu	37	2	37414560	37414560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37414560T>A	ENST00000535679.1	-	2	249	c.250A>T	c.(250-252)Aaa>Taa	p.K84*	SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.K46*|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.K46*|SULT6B1_ENST00000379149.2_Nonsense_Mutation_p.K84*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	84						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TACTTTTTTTTAGAAACAGCA	0.323																																						ENST00000535679.1																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(250-252)Aaa>Taa		sulfotransferase family, cytosolic, 6B, member 1							45.0	48.0	47.0					2																	37414560		2200	4294	6494	SO:0001587	stop_gained	391365					cytoplasm	sulfotransferase activity	g.chr2:37414560T>A	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.250A>T	2.37:g.37414560T>A	ENSP00000444081:p.Lys84*					SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.K46*|SULT6B1_ENST00000379149.2_Nonsense_Mutation_p.K84*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.K46*	p.K84*			Q6IMI4	ST6B1_HUMAN			2	249	-		all_hematologic(82;0.248)	84					B2RTS7	Nonsense_Mutation	SNP	ENST00000535679.1	37	c.250A>T		.	.	.	.	.	.	.	.	.	.	T	21.1	4.100230	0.76983	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	.	.	.	5.04	1.34	0.21922	.	0.789570	0.11653	N	0.542575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2453	0.15493	0.0:0.2617:0.1582:0.5802	.	.	.	.	X	84;84;46;46	.	ENSP00000260637:K46X	K	-	1	0	SULT6B1	37268064	0.809000	0.29036	0.042000	0.18584	0.939000	0.58152	0.645000	0.24782	0.419000	0.25927	0.528000	0.53228	AAA		0.323	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		6	50	0	0	0	1	0	6	50				
GNAS-AS1	149775	broad.mit.edu	37	20	57393338	57393338	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57393338G>A	ENST00000424094.2	-	0	2312				MIR296_ENST00000385215.1_lincRNA|MIR298_ENST00000401212.1_RNA	NR_002785.2				GNAS antisense RNA 1																		AAACCACTGGGAGAACCTCCC	0.567																																						ENST00000401212.1																			0																				44.0	49.0	47.0					20																	57393338		1568	3582	5150			0							g.chr20:57393338G>A	AJ251759		20q13.32	2012-10-19	2012-08-15	2010-11-25	ENSG00000235590	ENSG00000235590		"""Long non-coding RNAs"", ""-"""	24872	non-coding RNA	RNA, long non-coding	"""GNAS antisense"", ""non-protein coding RNA 75"""	610540	"""GNAS antisense RNA (non-protein coding)"", ""GNAS antisense RNA 1 (non-protein coding)"""	GNASAS, GNAS-AS		10749992	Standard	NR_002785		Approved	SANG, NESP-AS, NESPAS, GNAS1AS, NCRNA00075	uc002xzs.2		OTTHUMG00000060481		20.37:g.57393338G>A								NR_030580.1						0	30	-									RNA	SNP	ENST00000424094.2	37																																																																																						0.567	GNAS-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000133891.2	NR_002785		3	9	0	0	0	1	0	3	9				
TMEM5	10329	broad.mit.edu	37	12	64202637	64202637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64202637C>T	ENST00000261234.6	+	6	1255	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	TMEM5_ENST00000537373.1_Missense_Mutation_p.S106F|TMEM5-AS1_ENST00000546214.1_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	366						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGGAATACATCTGTGCACCAC	0.478																																						ENST00000537373.1																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(316-318)tCt>tTt		transmembrane protein 5							143.0	129.0	134.0					12																	64202637		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64202637C>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1097C>T	12.37:g.64202637C>T	ENSP00000261234:p.Ser366Phe					TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000261234.6_Missense_Mutation_p.S366F	p.S106F	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	6	1265	+		Myeloproliferative disorder(1001;0.0255)	366					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.317C>T	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897234	0.52121	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.87	4.87	0.63330	.	0.282281	0.41194	D	0.000934	T	0.74733	0.3755	M	0.70595	2.14	0.51233	D	0.999912	P;P	0.48503	0.911;0.911	P;P	0.55577	0.779;0.779	T	0.74512	-0.3641	8	.	.	.	-8.7169	18.8922	0.92408	0.0:1.0:0.0:0.0	.	106;366	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	F	366;106	.	.	S	+	2	0	TMEM5	62488904	0.985000	0.35326	0.023000	0.16930	0.029000	0.11900	4.776000	0.62354	2.646000	0.89796	0.491000	0.48974	TCT		0.478	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		31	51	0	0	0	1	0	31	51				
DXO	1797	broad.mit.edu	37	6	31938848	31938848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938848G>A	ENST00000375349.3	-	3	844	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000375356.3_Missense_Mutation_p.R145W|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Missense_Mutation_p.R145W|STK19_ENST00000375331.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	145					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CCCTCCTGCCGCTCATACGGT	0.642																																						ENST00000375349.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(433-435)Cgg>Tgg									80.0	90.0	86.0					6																	31938848		1508	2707	4215	SO:0001583	missense	0						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938848G>A	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.433C>T	6.37:g.31938848G>A	ENSP00000364498:p.Arg145Trp					DOM3Z_ENST00000337523.5_Missense_Mutation_p.R145W|DOM3Z_ENST00000375356.3_Missense_Mutation_p.R145W|DOM3Z_ENST00000478221.1_5'UTR	p.R145W			O77932	DOM3Z_HUMAN			3	844	-			145					A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.433C>T	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890968	0.52014	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.19105	2.17;2.17;2.17	4.91	3.11	0.35812	.	0.641212	0.14267	N	0.330451	T	0.07234	0.0183	N	0.24115	0.695	0.31220	N	0.697635	D;D	0.65815	0.995;0.989	P;B	0.46825	0.528;0.295	T	0.13255	-1.0516	10	0.59425	D	0.04	-11.5867	6.4655	0.21980	0.0852:0.0:0.4836:0.4312	.	145;145	F8WC68;O77932	.;DOM3Z_HUMAN	W	145	ENSP00000337759:R145W;ENSP00000364498:R145W;ENSP00000364505:R145W	ENSP00000337759:R145W	R	-	1	2	DOM3Z	32046827	0.989000	0.36119	0.997000	0.53966	0.716000	0.41182	2.089000	0.41672	0.644000	0.30656	-0.258000	0.10820	CGG		0.642	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			22	49	0	0	0	1	0	22	49				
AMPD3	272	broad.mit.edu	37	11	10516515	10516515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10516515C>T	ENST00000396554.3	+	8	1572	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	AMPD3_ENST00000444303.2_Missense_Mutation_p.R243C	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	402					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGTGAGCTGCGTGACCTGTA	0.532																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25	GRCh37	CM940057	AMPD3	M		c.(727-729)Cgt>Tgt		adenosine monophosphate deaminase 3							161.0	164.0	163.0					11																	10516515		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10516515C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1231C>T	11.37:g.10516515C>T	ENSP00000379802:p.Arg411Cys					AMPD3_ENST00000396554.3_Missense_Mutation_p.R411C	p.R243C	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	7	1199	+			402					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.727C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327944	0.81690	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	4.99	4.01	0.46588	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93149	0.6548	10	0.66056	D	0.02	-9.0754	12.7194	0.57134	0.2505:0.7495:0.0:0.0	.	409;402;411	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	C	243;411;402;409;402	ENSP00000396000:R243C;ENSP00000379802:R411C;ENSP00000379801:R402C;ENSP00000436987:R409C;ENSP00000431648:R402C	ENSP00000379801:R402C	R	+	1	0	AMPD3	10473091	0.463000	0.25799	0.977000	0.42913	0.987000	0.75469	1.101000	0.31037	2.324000	0.78689	0.491000	0.48974	CGT		0.532	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		71	86	0	0	0	1	0	71	86				
IGSF6	10261	broad.mit.edu	37	16	21655643	21655643	+	Missense_Mutation	SNP	C	C	T	rs543143297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21655643C>T	ENST00000268389.4	-	3	563	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	RNU6-196P_ENST00000384315.1_RNA|METTL9_ENST00000396014.4_Intron|RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	168					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		ACGCACACACCGGTCACATAG	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20513	0.0		0.0	False		,,,				2504	0.0					ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(502-504)Ggt>Agt		immunoglobulin superfamily, member 6							125.0	115.0	119.0					16																	21655643		2199	4300	6499	SO:0001583	missense	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21655643C>T	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.502G>A	16.37:g.21655643C>T	ENSP00000268389:p.Gly168Ser					METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.G168S	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	3	563	-			168					Q8WWD8	Missense_Mutation	SNP	ENST00000268389.4	37	c.502G>A	CCDS10599.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555343	0.45487	.	.	ENSG00000140749	ENST00000268389	T	0.22539	1.95	5.55	4.6	0.57074	.	0.531500	0.18259	N	0.146692	T	0.13200	0.0320	N	0.25647	0.755	0.09310	N	1	B	0.31503	0.326	B	0.25140	0.058	T	0.18493	-1.0335	10	0.23302	T	0.38	-17.0373	10.3997	0.44222	0.0:0.91:0.0:0.09	.	168	O95976	IGSF6_HUMAN	S	168	ENSP00000268389:G168S	ENSP00000268389:G168S	G	-	1	0	IGSF6	21563144	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.870000	0.28010	1.340000	0.45581	0.655000	0.94253	GGT		0.408	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			12	43	0	0	0	1	0	12	43				
ABCF2	10061	broad.mit.edu	37	7	150921997	150921997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921997C>T	ENST00000287844.2	-	3	341	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	ABCF2_ENST00000222388.2_Missense_Mutation_p.A78T|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	78					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTGAGAGGCCAGGACGCCA	0.483																																						ENST00000287844.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(232-234)Gcc>Acc		ATP-binding cassette, sub-family F (GCN20), member 2							146.0	136.0	140.0					7																	150921997		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921997C>T	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.232G>A	7.37:g.150921997C>T	ENSP00000287844:p.Ala78Thr					ABCF2_ENST00000222388.2_Missense_Mutation_p.A78T	p.A78T	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	341	-			78					O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.232G>A	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417833	0.62622	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;D	0.91740	-2.85;-2.9;-1.7	5.81	5.81	0.92471	.	0.052577	0.85682	D	0.000000	D	0.88862	0.6552	L	0.39020	1.185	0.80722	D	1	B;B	0.20368	0.025;0.044	B;B	0.24974	0.057;0.057	D	0.83875	0.0276	10	0.31617	T	0.26	0.4878	17.2385	0.87006	0.0:1.0:0.0:0.0	.	78;78	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	T	78	ENSP00000222388:A78T;ENSP00000287844:A78T;ENSP00000419720:A78T	ENSP00000222388:A78T	A	-	1	0	ABCF2	150552930	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.576000	0.60915	2.746000	0.94184	0.655000	0.94253	GCC		0.483	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		21	74	0	0	0	1	0	21	74				
KCNJ5	3762	broad.mit.edu	37	11	128781940	128781940	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781940A>G	ENST00000338350.4	+	3	1124	c.772A>G	c.(772-774)Aac>Gac	p.N258D	KCNJ5_ENST00000533599.1_Missense_Mutation_p.N258D|KCNJ5_ENST00000529694.1_Missense_Mutation_p.N258D			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	258					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GACAGACATCAACGTGGGCTT	0.577																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(772-774)Aac>Gac		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						90.0	96.0	94.0					11																	128781940		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781940A>G	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.772A>G	11.37:g.128781940A>G	ENSP00000339960:p.Asn258Asp					KCNJ5_ENST00000533599.1_Missense_Mutation_p.N258D|KCNJ5_ENST00000338350.4_Missense_Mutation_p.N258D	p.N258D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1148	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	258					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.772A>G	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333876	0.41297	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.93811	-3.29;-3.29;-3.29	5.34	5.34	0.76211	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	N	0.20401	0.57	0.46011	D	0.998819	P	0.48089	0.905	P	0.47402	0.546	D	0.86918	0.2065	10	0.11182	T	0.66	.	15.3223	0.74132	1.0:0.0:0.0:0.0	.	258	P48544	IRK5_HUMAN	D	258	ENSP00000433295:N258D;ENSP00000339960:N258D;ENSP00000434266:N258D	ENSP00000339960:N258D	N	+	1	0	KCNJ5	128287150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.020000	0.59435	0.459000	0.35465	AAC		0.577	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		25	51	0	0	0	1	0	25	51				
EMR1	2015	broad.mit.edu	37	19	6904078	6904078	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6904078C>A	ENST00000312053.4	+	8	871	c.834C>A	c.(832-834)acC>acA	p.T278T	EMR1_ENST00000250572.8_Silent_p.T278T|EMR1_ENST00000381404.4_Silent_p.T226T|EMR1_ENST00000381407.5_Silent_p.T137T|EMR1_ENST00000450315.3_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	278	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATCCATCAACCTGTGGTCCTA	0.473																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(832-834)acC>acA		egf-like module containing, mucin-like, hormone receptor-like 1							101.0	96.0	97.0					19																	6904078		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6904078C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.834C>A	19.37:g.6904078C>A						EMR1_ENST00000250572.8_Silent_p.T278T|EMR1_ENST00000381407.5_Silent_p.T137T|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.T226T	p.T278T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			8	871	+	all_hematologic(4;0.166)		278			EGF-like 6; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.834C>A	CCDS12175.1																																																																																				0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			23	57	1	0	7.33532e-06	1	8.36534e-06	23	57				
TENM2	57451	broad.mit.edu	37	5	167631584	167631584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167631584G>A	ENST00000518659.1	+	19	3821	c.3782G>A	c.(3781-3783)cGc>cAc	p.R1261H	TENM2_ENST00000520394.1_Missense_Mutation_p.R1029H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1261H|TENM2_ENST00000519204.1_Missense_Mutation_p.R1140H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1085H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1261					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TACATCCGACGCATCTTTCCC	0.527																																						ENST00000519204.1																			0											c.(3418-3420)cGc>cAc		teneurin transmembrane protein 2							101.0	98.0	99.0					5																	167631584		1978	4161	6139	SO:0001583	missense	57451							g.chr5:167631584G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3782G>A	5.37:g.167631584G>A	ENSP00000429430:p.Arg1261His					TENM2_ENST00000520394.1_Missense_Mutation_p.R1029H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1085H|TENM2_ENST00000518659.1_Missense_Mutation_p.R1261H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1261H	p.R1140H							18	3537	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3419G>A		.	.	.	.	.	.	.	.	.	.	g	32	5.190230	0.94923	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	4.9	4.9	0.64082	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	M	0.85710	2.77	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.993	D	0.96571	0.9423	10	0.87932	D	0	.	18.1219	0.89574	0.0:0.0:1.0:0.0	.	1261;1261;1029	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	1261;1261;1140;1029;1085	ENSP00000429430:R1261H;ENSP00000438635:R1261H;ENSP00000428964:R1140H;ENSP00000427874:R1029H;ENSP00000384905:R1085H	ENSP00000384905:R1085H	R	+	2	0	ODZ2	167564162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.866000	0.99616	2.255000	0.74692	0.550000	0.68814	CGC		0.527	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		17	29	0	0	0	1	0	17	29				
KCNA5	3741	broad.mit.edu	37	12	5154806	5154806	+	Missense_Mutation	SNP	C	C	T	rs145163163		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154806C>T	ENST00000252321.3	+	1	1722	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	498					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	ATCGTGGGCTCGCTGTGTGCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18957	0.0		0.0	False		,,,				2504	0.001					ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1492-1494)tCg>tTg		potassium voltage-gated channel, shaker-related subfamily, member 5		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	118.0	107.0	111.0		1493	5.2	0.9	12	dbSNP_134	111	3,8597	3.0+/-9.4	0,3,4297	no	missense	KCNA5	NM_002234.2	145	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging	498/614	5154806	4,13002	2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154806C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1493C>T	12.37:g.5154806C>T	ENSP00000252321:p.Ser498Leu						p.S498L	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1722	+			498					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1493C>T	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076956	0.76415	2.27E-4	3.49E-4	ENSG00000130037	ENST00000252321	D	0.98329	-4.87	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98704	0.9565	M	0.80332	2.49	0.80722	D	1	D	0.56968	0.978	P	0.59643	0.861	D	0.99709	1.1006	10	0.87932	D	0	.	17.794	0.88564	0.0:1.0:0.0:0.0	.	498	P22460	KCNA5_HUMAN	L	498	ENSP00000252321:S498L	ENSP00000252321:S498L	S	+	2	0	KCNA5	5025067	0.983000	0.35010	0.942000	0.38095	0.980000	0.70556	5.844000	0.69430	2.677000	0.91161	0.561000	0.74099	TCG		0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		33	34	0	0	0	1	0	33	34				
ASH1L	55870	broad.mit.edu	37	1	155311800	155311800	+	Missense_Mutation	SNP	C	C	T	rs369654728		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155311800C>T	ENST00000368346.3	-	25	9041	c.8402G>A	c.(8401-8403)cGc>cAc	p.R2801H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2796H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2801					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GACAGGATAGCGGTTCCGGTG	0.463																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8401-8403)cGc>cAc		ash1 (absent, small, or homeotic)-like (Drosophila)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	244.0	233.0	237.0		8387	5.3	1.0	1		237	0,8600		0,0,4300	no	missense	ASH1L	NM_018489.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2796/2965	155311800	1,13005	2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155311800C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8402G>A	1.37:g.155311800C>T	ENSP00000357330:p.Arg2801His					ASH1L_ENST00000392403.3_Missense_Mutation_p.R2796H	p.R2801H			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		25	9041	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2801					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8402G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.545598	0.96488	2.27E-4	0.0	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89939	-2.59;-2.59	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.92401	0.7588	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.92366	0.5901	10	0.62326	D	0.03	.	18.6774	0.91534	0.0:1.0:0.0:0.0	.	2801;2796	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	2801;2796	ENSP00000357330:R2801H;ENSP00000376204:R2796H	ENSP00000357330:R2801H	R	-	2	0	ASH1L	153578424	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.419000	0.80179	2.738000	0.93877	0.555000	0.69702	CGC		0.463	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		60	100	0	0	0	1	0	60	100				
C11orf16	56673	broad.mit.edu	37	11	8951035	8951035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8951035C>T	ENST00000326053.5	-	3	319	c.213G>A	c.(211-213)tgG>tgA	p.W71*	C11orf16_ENST00000528998.1_Intron|C11orf16_ENST00000525780.1_Nonsense_Mutation_p.W71*	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	71										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CAGGCCCCTGCCATGCTGGGT	0.527																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(211-213)tgG>tgA		chromosome 11 open reading frame 16							66.0	65.0	65.0					11																	8951035		2201	4296	6497	SO:0001587	stop_gained	56673							g.chr11:8951035C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.213G>A	11.37:g.8951035C>T	ENSP00000318999:p.Trp71*					C11orf16_ENST00000525780.1_Nonsense_Mutation_p.W71*|C11orf16_ENST00000528998.1_Intron	p.W71*	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	3	319	-			71					Q53FB2|Q8N6Y9	Nonsense_Mutation	SNP	ENST00000326053.5	37	c.213G>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111607	0.20714	.	.	ENSG00000176029	ENST00000525780;ENST00000326053;ENST00000526227	.	.	.	4.66	2.78	0.32641	.	0.239742	0.30302	N	0.009932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7927	6.6892	0.23161	0.3138:0.6024:0.0:0.0838	.	.	.	.	X	71	.	ENSP00000318999:W71X	W	-	3	0	C11orf16	8907611	0.500000	0.26091	0.232000	0.24009	0.030000	0.12068	0.834000	0.27518	0.680000	0.31366	-0.152000	0.13540	TGG		0.527	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		4	27	0	0	0	1	0	4	27				
TAF6L	10629	broad.mit.edu	37	11	62549438	62549438	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62549438G>T	ENST00000294168.3	+	7	805	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	202					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGTGGTCAGTGGGGTAAGTGA	0.527																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(604-606)Ggg>Tgg		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							82.0	75.0	78.0					11																	62549438		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549438G>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.604G>T	11.37:g.62549438G>T	ENSP00000294168:p.Gly202Trp					TMEM223_ENST00000527073.1_Intron	p.G202W	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			7	805	+			202					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.604G>T	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785234	0.70337	.	.	ENSG00000162227	ENST00000294168	T	0.50001	0.76	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67975	-0.5531	10	0.72032	D	0.01	-8.0874	16.7038	0.85366	0.0:0.0:1.0:0.0	.	202	Q9Y6J9	TAF6L_HUMAN	W	202	ENSP00000294168:G202W	ENSP00000294168:G202W	G	+	1	0	TAF6L	62306014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.065000	0.71176	2.813000	0.96785	0.561000	0.74099	GGG		0.527	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		5	37	1	0	0.000602214	1	0.000649039	5	37				
ADAMTS14	140766	broad.mit.edu	37	10	72468457	72468457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72468457C>T	ENST00000373207.1	+	4	793	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	ADAMTS14_ENST00000373208.1_Silent_p.L265L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	265	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGAGGTGCTGCTGGTGGTGGA	0.602																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(793-795)Ctg>Ttg		ADAM metallopeptidase with thrombospondin type 1 motif, 14							143.0	113.0	123.0					10																	72468457		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72468457C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.793C>T	10.37:g.72468457C>T						ADAMTS14_ENST00000373207.1_Silent_p.L265L	p.L265L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			4	793	+			265			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.793C>T	CCDS7306.1																																																																																				0.602	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		24	47	0	0	0	1	0	24	47				
IGSF22	283284	broad.mit.edu	37	11	18735622	18735622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735622C>T	ENST00000513874.1	-	14	2011	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	624	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATGTGGGCCGTGTGGCCTA	0.617																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1870-1872)acG>acA		immunoglobulin superfamily, member 22							80.0	85.0	83.0					11																	18735622		2162	4239	6401	SO:0001819	synonymous_variant	283284							g.chr11:18735622C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1872G>A	11.37:g.18735622C>T						RP11-1081L13.4_ENST00000527285.1_RNA	p.T624T	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			14	2011	-			624			Ig-like 4.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.1872G>A	CCDS41625.2																																																																																				0.617	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		25	43	0	0	0	1	0	25	43				
APC2	10297	broad.mit.edu	37	19	1462051	1462051	+	Silent	SNP	C	C	T	rs148957868	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1462051C>T	ENST00000535453.1	+	13	3441	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.G302G|APC2_ENST00000233607.2_Silent_p.G576G|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGATGGCGCCCTGGGCT	0.632																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1726-1728)ggC>ggT		adenomatosis polyposis coli 2		C		1,4405	2.1+/-5.4	0,1,2202	63.0	53.0	56.0		1728	-9.2	0.7	19	dbSNP_134	56	6,8592	4.3+/-15.6	0,6,4293	no	coding-synonymous	APC2	NM_005883.2		0,7,6495	TT,TC,CC		0.0698,0.0227,0.0538		576/2304	1462051	7,12997	2203	4299	6502	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1462051C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1728C>T	19.37:g.1462051C>T						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.G576G|APC2_ENST00000238483.4_Silent_p.G302G|CTB-25B13.12_ENST00000588225.1_RNA	p.G576G			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	3441	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	576					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1728C>T	CCDS12068.1																																																																																				0.632	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		16	23	0	0	0	1	0	16	23				
PODNL1	79883	broad.mit.edu	37	19	14047218	14047218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14047218C>T	ENST00000339560.5	-	3	575	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	PODNL1_ENST00000538371.2_Missense_Mutation_p.R99Q|PODNL1_ENST00000254320.3_Missense_Mutation_p.E41K|PODNL1_ENST00000538517.2_Missense_Mutation_p.R99Q	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	101	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTTGAGGGTTCGCAGGCCACT	0.627																																						ENST00000538517.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(295-297)cGa>cAa		podocan-like 1							193.0	168.0	176.0					19																	14047218		2203	4300	6503	SO:0001583	missense	79883					proteinaceous extracellular matrix		g.chr19:14047218C>T	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.302G>A	19.37:g.14047218C>T	ENSP00000345175:p.Arg101Gln					PODNL1_ENST00000254320.3_Missense_Mutation_p.E41K|PODNL1_ENST00000538371.2_Missense_Mutation_p.R99Q|PODNL1_ENST00000339560.5_Missense_Mutation_p.R101Q	p.R99Q	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		3	540	-			172			Leu-rich.		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	c.296G>A	CCDS12300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.23|15.23	2.772280|2.772280	0.49680|0.49680	.|.	.|.	ENSG00000132000|ENSG00000132000	ENST00000545071;ENST00000254320|ENST00000538371;ENST00000538517;ENST00000339560	T|T;T;T	0.37752|0.55760	1.18|0.5;0.5;0.5	4.64|4.64	2.5|2.5	0.30297|0.30297	.|.	.|0.173029	.|0.27563	.|N	.|0.018803	T|T	0.31670|0.31670	0.0804|0.0804	N|N	0.02658|0.02658	-0.545|-0.545	0.25038|0.25038	N|N	0.991221|0.991221	B|P;D;B	0.30361|0.59767	0.277|0.876;0.986;0.269	B|B;P;B	0.12156|0.54100	0.007|0.23;0.742;0.067	T|T	0.09378|0.09378	-1.0677|-1.0677	9|10	0.06236|0.24483	T|T	0.91|0.36	.|.	5.7129|5.7129	0.17945|0.17945	0.0:0.6884:0.0:0.3116|0.0:0.6884:0.0:0.3116	.|.	41|99;99;101	B7Z3M0|F5H7F9;G3V1J6;Q6PEZ8	.|.;.;PONL1_HUMAN	K|Q	41|99;99;101	ENSP00000254320:E41K|ENSP00000442553:R99Q;ENSP00000440080:R99Q;ENSP00000345175:R101Q	ENSP00000254320:E41K|ENSP00000345175:R101Q	E|R	-|-	1|2	0|0	PODNL1|PODNL1	13908218|13908218	0.062000|0.062000	0.20869|0.20869	0.954000|0.954000	0.39281|0.39281	0.849000|0.849000	0.48306|0.48306	0.557000|0.557000	0.23454|0.23454	0.956000|0.956000	0.37904|0.37904	0.479000|0.479000	0.44913|0.44913	GAA|CGA		0.627	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		30	50	0	0	0	1	0	30	50				
LRRC25	126364	broad.mit.edu	37	19	18502934	18502934	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18502934C>T	ENST00000339007.3	-	2	1434	c.781G>A	c.(781-783)Gct>Act	p.A261T	LRRC25_ENST00000595840.1_Splice_Site_p.A261T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	261						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GAAGGGTGAGCCCTGGGGGGA	0.582																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.e2-1		leucine rich repeat containing 25							88.0	84.0	85.0					19																	18502934		2203	4300	6503	SO:0001630	splice_region_variant	126364					integral to membrane		g.chr19:18502934C>T	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.780-1G>A	19.37:g.18502934C>T						LRRC25_ENST00000595840.1_Splice_Site_p.A261_splice	p.A261_splice	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			2	1434	-			261					Q6IQ00|Q8N9A5	Splice_Site	SNP	ENST00000339007.3	37	c.779_splice	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655910	0.29425	.	.	ENSG00000175489	ENST00000339007	T	0.38077	1.16	4.04	-2.45	0.06481	.	1.228810	0.06067	N	0.659485	T	0.23133	0.0559	L	0.40543	1.245	0.80722	D	1	B	0.19331	0.035	B	0.17722	0.019	T	0.30179	-0.9987	10	0.22706	T	0.39	0.5888	1.3781	0.02225	0.1579:0.3297:0.3094:0.203	.	261	Q8N386	LRC25_HUMAN	T	261	ENSP00000340983:A261T	ENSP00000340983:A261T	A	-	1	0	LRRC25	18363934	0.000000	0.05858	0.017000	0.16124	0.163000	0.22366	-1.979000	0.01493	-0.453000	0.07076	0.555000	0.69702	GCT		0.582	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256	Missense_Mutation	4	82	0	0	0	1	0	4	82				
TROAP	10024	broad.mit.edu	37	12	49724763	49724763	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49724763G>T	ENST00000257909.3	+	13	2174				TROAP_ENST00000551245.1_Missense_Mutation_p.R712M|TROAP_ENST00000547923.1_Intron	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAACACAAGAGGTCCTCACCT	0.617																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(2134-2136)aGg>aTg		trophinin associated protein							75.0	71.0	72.0					12																	49724763		2203	4300	6503	SO:0001627	intron_variant	10024				cell adhesion	cytoplasm		g.chr12:49724763G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2098+37G>T	12.37:g.49724763G>T						TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron	p.R712M			Q12815	TROAP_HUMAN			13	2246	+			729					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.2135G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	4.989	0.183729	0.09495	.	.	ENSG00000135451	ENST00000551245	.	.	.	4.11	-2.83	0.05769	.	.	.	.	.	T	0.29882	0.0747	.	.	.	0.09310	N	1	P	0.49447	0.924	P	0.47981	0.563	T	0.23084	-1.0198	7	0.66056	D	0.02	.	1.013	0.01502	0.3966:0.1533:0.2936:0.1566	.	712	F8W130	.	M	712	.	ENSP00000447509:R712M	R	+	2	0	TROAP	48011030	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.439000	0.06897	-0.171000	0.10797	-1.099000	0.02127	AGG		0.617	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		24	25	1	0	5.35356e-11	1	6.64197e-11	24	25				
SH3RF1	57630	broad.mit.edu	37	4	170038810	170038810	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170038810G>A	ENST00000284637.9	-	9	1982	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	547					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCAGCCACGCCATTTCCCT	0.582																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1639-1641)ggC>ggT		SH3 domain containing ring finger 1							69.0	66.0	67.0					4																	170038810		2203	4300	6503	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170038810G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1641C>T	4.37:g.170038810G>A						SH3RF1_ENST00000508685.1_5'UTR	p.G547G	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	9	1982	-		Prostate(90;0.00267)|Renal(120;0.0183)	547					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.1641C>T	CCDS34099.1																																																																																				0.582	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		12	25	0	0	0	1	0	12	25				
ABCA1	19	broad.mit.edu	37	9	107555451	107555451	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107555451C>A	ENST00000374736.3	-	41	6031		c.e41+1			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AAAAAGCTCACCTGGGCCTGA	0.532																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.e41+1		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	114.0	116.0					9																	107555451		2203	4300	6503	SO:0001630	splice_region_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107555451C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5636+1G>T	9.37:g.107555451C>A								NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	41	6031	-								Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	37		CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528554	0.85706	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6921	0.96007	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA1	106595272	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.336000	0.79245	2.761000	0.94854	0.655000	0.94253	.		0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron	41	79	1	0	6.57855e-14	1	8.37261e-14	41	79				
DSP	1832	broad.mit.edu	37	6	7583532	7583532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583532C>T	ENST00000379802.3	+	24	6378	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	DSP_ENST00000418664.2_Missense_Mutation_p.R1414W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2013	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCATTCCTTCGGGGTGCAGG	0.453																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6037-6039)Cgg>Tgg		desmoplakin							65.0	71.0	69.0					6																	7583532		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583532C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6037C>T	6.37:g.7583532C>T	ENSP00000369129:p.Arg2013Trp					DSP_ENST00000418664.2_Missense_Mutation_p.R1414W	p.R2013W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6378	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2013			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6037C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389973	0.61956	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68479	-0.33;-0.33	4.71	4.71	0.59529	.	0.140499	0.32328	N	0.006246	T	0.52821	0.1758	L	0.27053	0.805	0.22666	N	0.998877	D;D	0.71674	0.998;0.997	P;P	0.55785	0.784;0.727	T	0.51639	-0.8680	10	0.66056	D	0.02	.	11.4906	0.50379	0.3088:0.6912:0.0:0.0	.	1461;2013	Q4LE79;P15924	.;DESP_HUMAN	W	2013;1414	ENSP00000369129:R2013W;ENSP00000396591:R1414W	ENSP00000369129:R2013W	R	+	1	2	DSP	7528531	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.577000	0.67444	2.309000	0.77851	0.655000	0.94253	CGG		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		18	34	0	0	0	1	0	18	34				
CELSR3	1951	broad.mit.edu	37	3	48694281	48694281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694281C>T	ENST00000164024.4	-	2	4529	c.4249G>A	c.(4249-4251)Gct>Act	p.A1417T	CELSR3_ENST00000544264.1_Missense_Mutation_p.A1417T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1417	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCAGGCCAGCGATGGGCTGG	0.647																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(4249-4251)Gct>Act		cadherin, EGF LAG seven-pass G-type receptor 3							34.0	28.0	30.0					3																	48694281		2201	4298	6499	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694281C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4249G>A	3.37:g.48694281C>T	ENSP00000164024:p.Ala1417Thr					CELSR3_ENST00000164024.4_Missense_Mutation_p.A1417T	p.A1417T			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4529	-			1417			EGF-like 1; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.4249G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782371	0.16189	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.36340	1.26;1.26	4.9	4.9	0.64082	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.11707	0.0285	N	0.05124	-0.11	0.43238	D	0.995144	B;P	0.37688	0.213;0.605	B;B	0.21151	0.014;0.033	T	0.17653	-1.0362	9	0.07482	T	0.82	.	8.3693	0.32406	0.0:0.7868:0.0:0.2132	.	1417;1487	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	1417	ENSP00000164024:A1417T;ENSP00000445694:A1417T	ENSP00000164024:A1417T	A	-	1	0	CELSR3	48669285	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	2.691000	0.47010	2.560000	0.86352	0.549000	0.68633	GCT		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		3	3	0	0	0	1	0	3	3				
MCC	4163	broad.mit.edu	37	5	112418619	112418619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112418619G>A	ENST00000302475.4	-	9	1715	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.H321H|MCC_ENST00000408903.3_Silent_p.H574H	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	384					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGCAGATCCGTGTGAGTAGA	0.483																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1150-1152)caC>caT		mutated in colorectal cancers							214.0	185.0	195.0					5																	112418619		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112418619G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1152C>T	5.37:g.112418619G>A						MCC_ENST00000515367.2_Silent_p.H321H|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.H574H	p.H384H	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	9	1715	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	384					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.1152C>T	CCDS4111.1																																																																																				0.483	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		32	55	0	0	0	1	0	32	55				
ASTL	431705	broad.mit.edu	37	2	96795662	96795662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96795662C>T	ENST00000342380.2	-	8	774	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCGATGTGGACACTGGGGGCC	0.667																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(775-777)Gtc>Atc		astacin-like metallo-endopeptidase (M12 family)							48.0	56.0	54.0					2																	96795662		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795662C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.775G>A	2.37:g.96795662C>T	ENSP00000343674:p.Val259Ile						p.V259I	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			8	774	-			259						Missense_Mutation	SNP	ENST00000342380.2	37	c.775G>A	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	7.168	0.587036	0.13749	.	.	ENSG00000188886	ENST00000342380	T	0.63255	-0.03	4.14	1.01	0.19927	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.321565	0.21916	N	0.067228	T	0.44095	0.1277	L	0.27944	0.81	0.20821	N	0.999841	B	0.20261	0.043	B	0.24394	0.053	T	0.33343	-0.9872	10	0.48119	T	0.1	-8.937	6.4322	0.21803	0.0:0.6264:0.0:0.3736	.	259	Q6HA08	ASTL_HUMAN	I	259	ENSP00000343674:V259I	ENSP00000343674:V259I	V	-	1	0	ASTL	96159389	0.009000	0.17119	0.770000	0.31555	0.147000	0.21601	-0.257000	0.08745	0.279000	0.22186	0.555000	0.69702	GTC		0.667	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			16	44	0	0	0	1	0	16	44				
ASB17	127247	broad.mit.edu	37	1	76397592	76397592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76397592G>A	ENST00000284142.6	-	1	524	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	129					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCAGTGCCAGGTTACAACTT	0.338																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(385-387)Ctg>Ttg		ankyrin repeat and SOCS box containing 17							52.0	51.0	51.0					1																	76397592		2203	4299	6502	SO:0001819	synonymous_variant	127247				intracellular signal transduction			g.chr1:76397592G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.385C>T	1.37:g.76397592G>A							p.L129L	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	524	-			129					B1APB8|Q8N0X5	Silent	SNP	ENST00000284142.6	37	c.385C>T	CCDS671.1																																																																																				0.338	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		21	43	0	0	0	1	0	21	43				
COL9A1	1297	broad.mit.edu	37	6	70984468	70984468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70984468G>A	ENST00000357250.6	-	11	1141	c.983C>T	c.(982-984)aCa>aTa	p.T328I	COL9A1_ENST00000320755.7_Missense_Mutation_p.T85I|COL9A1_ENST00000370499.4_Missense_Mutation_p.T85I|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	328	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCAGGTCCTGTTAATCCCTA	0.358																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(982-984)aCa>aTa		collagen, type IX, alpha 1							94.0	90.0	91.0					6																	70984468		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70984468G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.983C>T	6.37:g.70984468G>A	ENSP00000349790:p.Thr328Ile					COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.T85I|COL9A1_ENST00000370499.4_Missense_Mutation_p.T85I	p.T328I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			11	1141	-			328			Triple-helical region (COL3).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.983C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252816	0.59212	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93712	-3.27;-3.27;-3.27	5.76	5.76	0.90799	.	0.093400	0.64402	D	0.000001	D	0.92642	0.7662	N	0.25992	0.78	0.58432	D	0.999998	D;P	0.89917	1.0;0.911	D;P	0.87578	0.998;0.701	D	0.90398	0.4400	10	0.21014	T	0.42	.	18.5296	0.90986	0.0:0.0:1.0:0.0	.	328;85	P20849;P20849-2	CO9A1_HUMAN;.	I	328;85;85	ENSP00000349790:T328I;ENSP00000315252:T85I;ENSP00000359530:T85I	ENSP00000315252:T85I	T	-	2	0	COL9A1	71041189	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.130000	0.57964	2.721000	0.93114	0.591000	0.81541	ACA		0.358	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			16	19	0	0	0	1	0	16	19				
FLNC	2318	broad.mit.edu	37	7	128470777	128470777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128470777C>T	ENST00000325888.8	+	1	347	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FLNC_ENST00000346177.6_Missense_Mutation_p.A29V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	29	Actin-binding.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGGACCTGGCGGAGGACGCG	0.647																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(85-87)gCg>gTg		filamin C, gamma							41.0	41.0	41.0					7																	128470777		2201	4300	6501	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470777C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.86C>T	7.37:g.128470777C>T	ENSP00000327145:p.Ala29Val					FLNC_ENST00000346177.6_Missense_Mutation_p.A29V	p.A29V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	347	+			29			Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.86C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143171	0.94560	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.59772	0.24;0.24	4.15	4.15	0.48705	Calponin homology domain (1);	0.000000	0.85682	U	0.000000	T	0.75133	0.3808	M	0.76574	2.34	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.79671	-0.1706	10	0.87932	D	0	.	15.3241	0.74147	0.0:1.0:0.0:0.0	.	29;29	Q14315-2;Q14315	.;FLNC_HUMAN	V	29	ENSP00000327145:A29V;ENSP00000344002:A29V	ENSP00000327145:A29V	A	+	2	0	FLNC	128258013	1.000000	0.71417	0.996000	0.52242	0.607000	0.37147	5.941000	0.70195	2.012000	0.59069	0.491000	0.48974	GCG		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	33	0	0	0	1	0	5	33				
TXNL4B	54957	broad.mit.edu	37	16	72122928	72122928	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72122928G>A	ENST00000268483.3	-	3	563	c.242C>T	c.(241-243)aCt>aTt	p.T81I	TXNL4B_ENST00000426362.2_Missense_Mutation_p.T81I|TXNL4B_ENST00000423037.1_Missense_Mutation_p.T81I|RP11-384M15.3_ENST00000561827.1_RNA	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	81					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GAAAAAGACAGTAGATGGAAT	0.368																																						ENST00000268483.3																			0				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						c.(241-243)aCt>aTt		thioredoxin-like 4B							153.0	145.0	148.0					16																	72122928		2198	4300	6498	SO:0001583	missense	54957				mitosis|mRNA processing|RNA splicing	spliceosomal complex		g.chr16:72122928G>A	BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.242C>T	16.37:g.72122928G>A	ENSP00000268483:p.Thr81Ile					TXNL4B_ENST00000426362.2_Missense_Mutation_p.T81I|TXNL4B_ENST00000423037.1_Missense_Mutation_p.T81I	p.T81I	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN			3	563	-			81					D3DWS6	Missense_Mutation	SNP	ENST00000268483.3	37	c.242C>T	CCDS10906.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780969	0.70222	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	4.66	4.66	0.58398	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.86740	2.835	0.80722	D	1	P	0.45594	0.862	P	0.46076	0.503	T	0.69412	-0.5152	9	0.10636	T	0.68	.	15.4237	0.75035	0.0:0.0:1.0:0.0	.	81	Q9NX01	TXN4B_HUMAN	I	81	.	ENSP00000268483:T81I	T	-	2	0	TXNL4B	70680429	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	7.749000	0.85096	2.581000	0.87130	0.561000	0.74099	ACT		0.368	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853		53	86	0	0	0	1	0	53	86				
DEFA5	1670	broad.mit.edu	37	8	6913035	6913035	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6913035C>T	ENST00000330590.2	-	2	239	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	68					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ACGGCCGGTTCGGCAATAGCA	0.567																																						ENST00000330590.2																			0				NS(1)|lung(4)|skin(1)|stomach(1)	7						c.(202-204)cGa>cAa		defensin, alpha 5, Paneth cell-specific							42.0	40.0	41.0					8																	6913035		2203	4300	6503	SO:0001583	missense	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6913035C>T	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.203G>A	8.37:g.6913035C>T	ENSP00000329890:p.Arg68Gln						p.R68Q	NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	239	-			68					A0JDY6|Q3KNV2	Missense_Mutation	SNP	ENST00000330590.2	37	c.203G>A	CCDS5963.1	.	.	.	.	.	.	.	.	.	.	.	11.06	1.529155	0.27387	.	.	ENSG00000164816	ENST00000330590	T	0.72615	-0.67	1.68	-0.434	0.12283	Beta defensin/Neutrophil defensin (1);Mammalian defensins (2);	.	.	.	.	T	0.52709	0.1751	.	.	.	0.09310	N	1	P	0.35575	0.51	B	0.32149	0.141	T	0.46091	-0.9216	8	0.66056	D	0.02	.	2.995	0.05995	0.0:0.5145:0.289:0.1966	.	68	Q01523	DEF5_HUMAN	Q	68	ENSP00000329890:R68Q	ENSP00000329890:R68Q	R	-	2	0	DEFA5	6900445	0.004000	0.15560	0.009000	0.14445	0.039000	0.13416	0.668000	0.25127	-0.145000	0.11294	0.484000	0.47621	CGA		0.567	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1	NM_021010		3	8	0	0	0	1	0	3	8				
CDC14B	8555	broad.mit.edu	37	9	99285970	99285970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285970G>A	ENST00000375241.1	-	10	1435	c.984C>T	c.(982-984)taC>taT	p.Y328Y	CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000375242.3_Silent_p.Y291Y|CDC14B_ENST00000375236.1_Silent_p.Y328Y|CDC14B_ENST00000265659.2_Silent_p.Y328Y|CDC14B_ENST00000463569.1_Silent_p.Y328Y|CDC14B_ENST00000375240.3_Silent_p.Y328Y	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	328	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTTCATGATGTAGCAGGCTA	0.517																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(982-984)taC>taT		cell division cycle 14B							68.0	58.0	61.0					9																	99285970		2203	4300	6503	SO:0001819	synonymous_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99285970G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.984C>T	9.37:g.99285970G>A						CDC14B_ENST00000463569.1_Silent_p.Y328Y|CDC14B_ENST00000265659.2_Silent_p.Y328Y|CDC14B_ENST00000375242.3_Silent_p.Y291Y|CDC14B_ENST00000375240.3_Silent_p.Y328Y|CDC14B_ENST00000375236.1_Silent_p.Y328Y	p.Y328Y	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			10	1435	-		Acute lymphoblastic leukemia(62;0.0559)	328			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Silent	SNP	ENST00000375241.1	37	c.984C>T	CCDS6722.1																																																																																				0.517	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		15	25	0	0	0	1	0	15	25				
MRGPRX4	117196	broad.mit.edu	37	11	18194963	18194963	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18194963T>C	ENST00000314254.3	+	1	580	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	54			Y -> C (in dbSNP:rs1869788). {ECO:0000269|PubMed:11850634}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTCCTGGGCTACCGCATGCG	0.552																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(160-162)Tac>Cac		MAS-related GPR, member X4							129.0	115.0	120.0					11																	18194963		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194963T>C	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.160T>C	11.37:g.18194963T>C	ENSP00000314042:p.Tyr54His					RP11-113D6.6_ENST00000527671.1_Intron	p.Y54H	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	580	+			54		Y -> C (in dbSNP:rs1869788).			Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.160T>C	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835972	0.32421	.	.	ENSG00000179817	ENST00000314254	T	0.09350	2.99	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.275863	0.31673	N	0.007243	T	0.07098	0.0180	L	0.27053	0.805	0.09310	N	1	B	0.32338	0.365	B	0.25140	0.058	T	0.28964	-1.0027	10	0.87932	D	0	.	9.2893	0.37778	0.0:0.0:0.0:1.0	.	54	Q96LA9	MRGX4_HUMAN	H	54	ENSP00000314042:Y54H	ENSP00000314042:Y54H	Y	+	1	0	MRGPRX4	18151539	0.017000	0.18338	0.005000	0.12908	0.010000	0.07245	2.156000	0.42310	1.364000	0.46038	0.418000	0.28097	TAC		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		36	57	0	0	0	1	0	36	57				
HIST1H1E	3008	broad.mit.edu	37	6	26156764	26156764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26156764C>T	ENST00000304218.3	+	1	206	c.146C>T	c.(145-147)gCc>gTc	p.A49V	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	49	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAAGCTGTTGCCGCCTCCAAG	0.607																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(145-147)gCc>gTc		histone cluster 1, H1e							22.0	27.0	25.0					6																	26156764		2203	4300	6503	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156764C>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.146C>T	6.37:g.26156764C>T	ENSP00000307705:p.Ala49Val						p.A49V	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	206	+			49			H15.		Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.146C>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.351750	0.82132	.	.	ENSG00000168298	ENST00000304218	T	0.09630	2.96	5.35	4.46	0.54185	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.282113	0.36444	N	0.002593	T	0.09291	0.0229	N	0.17901	0.54	0.39354	D	0.965804	P	0.45957	0.869	P	0.56343	0.796	T	0.12293	-1.0553	10	0.72032	D	0.01	-4.424	15.2209	0.73310	0.0:0.8586:0.1414:0.0	.	49	P10412	H14_HUMAN	V	49	ENSP00000307705:A49V	ENSP00000307705:A49V	A	+	2	0	HIST1H1E	26264743	1.000000	0.71417	0.988000	0.46212	0.549000	0.35272	3.156000	0.50708	1.341000	0.45600	0.561000	0.74099	GCC		0.607	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		8	33	0	0	0	1	0	8	33				
CARD11	84433	broad.mit.edu	37	7	2984158	2984158	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2984158G>A	ENST00000396946.4	-	5	775	c.372C>T	c.(370-372)caC>caT	p.H124H	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	124					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)		TGAGGCCCTCGTGGCCTTCCT	0.612			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.(370-372)caC>caT		caspase recruitment domain family, member 11							50.0	47.0	48.0					7																	2984158		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:2984158G>A	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.372C>T	7.37:g.2984158G>A						AC004906.3_ENST00000423194.1_RNA	p.H124H	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	775	-		Ovarian(82;0.0115)	124					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.372C>T	CCDS5336.2																																																																																				0.612	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		4	26	0	0	0	1	0	4	26				
AFTPH	54812	broad.mit.edu	37	2	64779246	64779246	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779246G>T	ENST00000422803.1	+	2	952	c.638G>T	c.(637-639)aGc>aTc	p.S213I	AFTPH_ENST00000238855.7_Missense_Mutation_p.S213I|AFTPH_ENST00000238856.4_Missense_Mutation_p.S213I|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_Missense_Mutation_p.S213I			Q6ULP2	AFTIN_HUMAN	aftiphilin	213					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AAGCCTCTTAGCACTCATAGC	0.403																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(637-639)aGc>aTc		aftiphilin							98.0	93.0	95.0					2																	64779246		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779246G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.638G>T	2.37:g.64779246G>T	ENSP00000397726:p.Ser213Ile					AFTPH_ENST00000409933.1_Missense_Mutation_p.S213I|AFTPH_ENST00000238855.7_Missense_Mutation_p.S213I|AFTPH_ENST00000238856.4_Missense_Mutation_p.S213I	p.S213I			Q6ULP2	AFTIN_HUMAN			2	952	+			213					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.638G>T		.	.	.	.	.	.	.	.	.	.	G	11.27	1.589155	0.28357	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.11	2.19	0.27852	.	0.449420	0.26166	N	0.025958	T	0.16385	0.0394	L	0.40543	1.245	0.28343	N	0.921252	B;B;B;B	0.14438	0.01;0.01;0.01;0.01	B;B;B;B	0.11329	0.006;0.006;0.006;0.006	T	0.11275	-1.0594	10	0.42905	T	0.14	-0.0973	2.579	0.04814	0.1459:0.1258:0.4702:0.2582	.	213;213;213;213	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	I	213	ENSP00000238856:S213I;ENSP00000397726:S213I;ENSP00000238855:S213I;ENSP00000387071:S213I	ENSP00000238855:S213I	S	+	2	0	AFTPH	64632750	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	0.809000	0.27168	0.750000	0.32877	0.591000	0.81541	AGC		0.403	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		6	68	1	0	0.00307968	1	0.00325696	6	68				
NCOA5	57727	broad.mit.edu	37	20	44692146	44692146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44692146G>A	ENST00000290231.6	-	7	1167	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGCCCCCACGCACTCCCTCC	0.587																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1003-1005)Cgt>Tgt		nuclear receptor coactivator 5							76.0	66.0	69.0					20																	44692146		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44692146G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1003C>T	20.37:g.44692146G>A	ENSP00000290231:p.Arg335Cys						p.R335C	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			7	1167	-		Myeloproliferative disorder(115;0.0122)	335					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1003C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216934	0.39201	.	.	ENSG00000124160	ENST00000290231	T	0.50813	0.73	5.41	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.53883	0.1824	L	0.38175	1.15	0.30300	N	0.789545	D	0.89917	1.0	D	0.87578	0.998	T	0.55198	-0.8178	10	0.66056	D	0.02	-13.5924	6.6758	0.23093	0.0819:0.0:0.5518:0.3663	.	335	Q9HCD5	NCOA5_HUMAN	C	335	ENSP00000290231:R335C	ENSP00000290231:R335C	R	-	1	0	NCOA5	44125553	0.058000	0.20735	0.069000	0.20011	0.865000	0.49528	0.670000	0.25157	1.480000	0.48289	0.561000	0.74099	CGT		0.587	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		17	25	0	0	0	1	0	17	25				
PIM1	5292	broad.mit.edu	37	6	37139015	37139015	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139015A>C	ENST00000373509.5	+	4	728	c.355A>C	c.(355-357)Atc>Ctc	p.I119L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	210					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTTCGTCCTGATCCTGGAGAG	0.602			T	BCL6	NHL																																	ENST00000373509.5				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30						c.(355-357)Atc>Ctc		pim-1 oncogene	Adenosine monophosphate(DB00131)						71.0	83.0	79.0					6																	37139015		2203	4300	6503	SO:0001583	missense	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37139015A>C		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.355A>C	6.37:g.37139015A>C	ENSP00000362608:p.Ile119Leu						p.I119L	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		4	728	+			210					Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	c.355A>C	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211745	0.58452	.	.	ENSG00000137193	ENST00000373509	T	0.68181	-0.31	4.28	0.434	0.16539	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.224105	0.37483	N	0.002064	T	0.49677	0.1571	L	0.45698	1.435	0.35275	D	0.780815	B	0.30851	0.297	P	0.46585	0.521	T	0.52845	-0.8521	10	0.72032	D	0.01	.	3.5533	0.07855	0.3431:0.2318:0.4251:0.0	.	210	P11309	PIM1_HUMAN	L	119	ENSP00000362608:I119L	ENSP00000362608:I119L	I	+	1	0	PIM1	37246993	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.652000	0.54439	0.231000	0.21079	0.448000	0.29417	ATC		0.602	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			44	64	0	0	0	1	0	44	64				
CNDP2	55748	broad.mit.edu	37	18	72178114	72178114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72178114G>A	ENST00000324262.4	+	6	839	c.523G>A	c.(523-525)Gag>Aag	p.E175K	CNDP2_ENST00000324301.8_Missense_Mutation_p.E91K|CNDP2_ENST00000579847.1_Missense_Mutation_p.E175K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	175					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGGCCTAGACGAGCTGATTTT	0.498																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(523-525)Gag>Aag		CNDP dipeptidase 2 (metallopeptidase M20 family)							151.0	138.0	142.0					18																	72178114		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72178114G>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.523G>A	18.37:g.72178114G>A	ENSP00000325548:p.Glu175Lys					CNDP2_ENST00000579847.1_Missense_Mutation_p.E175K|CNDP2_ENST00000324301.8_Missense_Mutation_p.E91K	p.E175K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	6	839	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	175					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.523G>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887512	0.52014	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.07567	3.18;3.18	6.06	6.06	0.98353	.	0.205916	0.52532	D	0.000076	T	0.13372	0.0324	L	0.60455	1.87	0.80722	D	1	B;B;B	0.26672	0.156;0.014;0.016	B;B;B	0.26770	0.073;0.024;0.009	T	0.06391	-1.0829	10	0.27785	T	0.31	-0.8918	20.6208	0.99490	0.0:0.0:1.0:0.0	.	80;91;175	B4DPF1;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	K	175;91	ENSP00000325548:E175K;ENSP00000325756:E91K	ENSP00000325548:E175K	E	+	1	0	CNDP2	70329094	1.000000	0.71417	0.996000	0.52242	0.292000	0.27327	6.655000	0.74392	2.882000	0.98803	0.655000	0.94253	GAG		0.498	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		35	40	0	0	0	1	0	35	40				
MED29	55588	broad.mit.edu	37	19	39880395	39880395	+	5'Flank	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880395G>A	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Silent_p.V49V|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221266.7_Silent_p.V49V|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Silent_p.V59V			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTTGTACTGGACGAACCTGG	0.552																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(175-177)gtC>gtT		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							189.0	169.0	176.0					19																	39880395		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880395G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880395G>A	Exception_encountered					PAF1_ENST00000221266.7_Silent_p.V49V|PAF1_ENST00000595564.1_Silent_p.V49V	p.V59V	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		4	507	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		59					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.177C>T																																																																																					0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		36	82	0	0	0	1	0	36	82				
ZMYM4	9202	broad.mit.edu	37	1	35847203	35847203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35847203C>T	ENST00000314607.6	+	9	1493	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	ZMYM4_ENST00000373297.2_Silent_p.C471C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	471					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATGCCTGCTTCTCTAAGT	0.428																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1411-1413)tgC>tgT		zinc finger, MYM-type 4							199.0	185.0	190.0					1																	35847203		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35847203C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1413C>T	1.37:g.35847203C>T						ZMYM4_ENST00000373297.2_Silent_p.C471C	p.C471C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			9	1493	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	471					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.1413C>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840250	0.16891	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.01	-0.117	0.13551	.	.	.	.	.	T	0.57607	0.2065	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51849	-0.8653	4	.	.	.	-7.6033	10.2458	0.43341	0.0:0.5041:0.0:0.4959	.	.	.	.	F	220	.	.	L	+	1	0	ZMYM4	35619790	0.908000	0.30866	0.998000	0.56505	0.995000	0.86356	0.061000	0.14366	-0.077000	0.12752	-0.218000	0.12543	CTT		0.428	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		56	64	0	0	0	1	0	56	64				
NR2E3	10002	broad.mit.edu	37	15	72105820	72105820	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72105820C>T	ENST00000398840.2	+	0	1029							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						CTGCTGGCACCGCCCGAGGCC	0.642																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3							34.0	37.0	36.0					15																	72105820		1954	4145	6099			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72105820C>T		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72105820C>T										Q9Y5X4	NR2E3_HUMAN			0	1029	+								B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	37			.	.	.	.	.	.	.	.	.	.	C	4.936	0.173910	0.09391	.	.	ENSG00000031544	ENST00000326995;ENST00000398840	.	.	.	5.36	2.04	0.26737	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	1.453940	0.04824	U	0.437418	T	0.16811	0.0404	N	0.02391	-0.57	0.25766	N	0.9849	B	0.06786	0.001	B	0.10450	0.005	T	0.19031	-1.0318	8	0.40728	T	0.16	.	5.4558	0.16590	0.0:0.421:0.0:0.579	.	280	Q9Y5X4	NR2E3_HUMAN	L	192;280	.	ENSP00000317199:P192L	P	+	2	0	NR2E3	69892874	0.024000	0.19004	0.060000	0.19600	0.080000	0.17528	2.152000	0.42272	0.638000	0.30545	0.561000	0.74099	CCG		0.642	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		6	10	0	0	0	1	0	6	10				
ISM2	145501	broad.mit.edu	37	14	77942399	77942399	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77942399G>A	ENST00000342219.4	-	7	1311	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	ISM2_ENST00000393684.3_Silent_p.L331L|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000412904.1_Silent_p.L338L|ISM2_ENST00000429906.1_Silent_p.L338L	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	419	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ATCTGGCTCAGATACTTGATT	0.602																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(991-993)Ctg>Ttg		isthmin 2							46.0	49.0	48.0					14																	77942399		2203	4300	6503	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77942399G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1255C>T	14.37:g.77942399G>A						ISM2_ENST00000429906.1_Silent_p.L338L|ISM2_ENST00000412904.1_Silent_p.L338L|ISM2_ENST00000342219.4_Silent_p.L419L|ISM2_ENST00000493585.1_3'UTR	p.L331L			Q6H9L7	ISM2_HUMAN			8	1382	-			419			TSP type-1.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.991C>T	CCDS9864.1																																																																																				0.602	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		15	43	0	0	0	1	0	15	43				
ARL8B	55207	broad.mit.edu	37	3	5220422	5220422	+	3'UTR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5220422C>T	ENST00000256496.3	+	0	831				ARL8B_ENST00000419534.2_Missense_Mutation_p.S149F|ARL8B_ENST00000468010.1_3'UTR|AC026202.3_ENST00000439325.1_RNA	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B						cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GTCTTCCAGTCCTTCTTGGCT	0.398																																						ENST00000419534.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9						c.(445-447)tCc>tTc		ADP-ribosylation factor-like 8B							91.0	89.0	90.0					3																	5220422		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55207				cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity	g.chr3:5220422C>T	AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.*24C>T	3.37:g.5220422C>T						AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR|ARL8B_ENST00000256496.3_3'UTR	p.S149F			Q9NVJ2	ARL8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	5	616	+			0					B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	c.446C>T	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341303	0.41498	.	.	ENSG00000134108	ENST00000419534	T	0.61392	0.11	5.36	2.53	0.30540	.	.	.	.	.	T	0.41442	0.1159	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.38735	-0.9647	8	0.87932	D	0	.	2.6562	0.05013	0.1399:0.462:0.2439:0.1542	.	149	B4DI85	.	F	149	ENSP00000402996:S149F	ENSP00000402996:S149F	S	+	2	0	ARL8B	5195422	0.714000	0.27936	0.991000	0.47740	0.957000	0.61999	0.098000	0.15189	0.620000	0.30215	0.650000	0.86243	TCC		0.398	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184		22	43	0	0	0	1	0	22	43				
CNTNAP2	26047	broad.mit.edu	37	7	147336303	147336303	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:147336303C>T	ENST00000361727.3	+	13	2519	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	668	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGCGCCTCCATGGACCAG	0.498										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2002-2004)tCc>tTc		contactin associated protein-like 2							147.0	125.0	132.0					7																	147336303		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336303C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2003C>T	7.37:g.147336303C>T	ENSP00000354778:p.Ser668Phe	HNSCC(39;0.1)					p.S668F	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2519	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	668			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2003C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408831	0.83340	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.26223	1.75;1.75	5.74	4.83	0.62350	.	0.140690	0.49305	D	0.000160	T	0.56232	0.1971	M	0.90977	3.165	0.80722	D	1	D	0.53462	0.96	P	0.60345	0.873	T	0.68288	-0.5448	10	0.87932	D	0	.	14.9352	0.70948	0.1441:0.8558:0.0:0.0	.	668	Q9UHC6	CNTP2_HUMAN	F	668;59	ENSP00000354778:S668F;ENSP00000392208:S59F	ENSP00000354778:S668F	S	+	2	0	CNTNAP2	146967236	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.264000	0.65513	1.502000	0.48669	0.561000	0.74099	TCC		0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			60	44	0	0	0	1	0	60	44				
SPTB	6710	broad.mit.edu	37	14	65263287	65263287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65263287G>A	ENST00000389721.5	-	10	1361	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	SPTB_ENST00000556626.1_Silent_p.R443R|SPTB_ENST00000542895.1_Silent_p.R443R|SPTB_ENST00000389720.3_Silent_p.R443R|SPTB_ENST00000389722.3_Silent_p.R443R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	443					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCCACGAGGCGCTGGTTTT	0.587																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1327-1329)cgC>cgT		spectrin, beta, erythrocytic							73.0	73.0	73.0					14																	65263287		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65263287G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1329C>T	14.37:g.65263287G>A						SPTB_ENST00000556626.1_Silent_p.R443R|SPTB_ENST00000542895.1_Silent_p.R443R|SPTB_ENST00000389720.3_Silent_p.R443R|SPTB_ENST00000389721.5_Silent_p.R443R	p.R443R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	10	1382	-		all_lung(585;4.15e-09)	443					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.1329C>T	CCDS32100.1																																																																																				0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			20	31	0	0	0	1	0	20	31				
ZNF385D	79750	broad.mit.edu	37	3	21462709	21462709	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:21462709G>A	ENST00000281523.2	-	8	1703	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	395						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTGGAATTTAGTAAGGAGCAA	0.428																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1183-1185)taC>taT		zinc finger protein 385D							30.0	30.0	30.0					3																	21462709		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462709G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1185C>T	3.37:g.21462709G>A							p.Y395Y	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1703	-			395						Silent	SNP	ENST00000281523.2	37	c.1185C>T	CCDS2636.1																																																																																				0.428	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		4	13	0	0	0	1	0	4	13				
STAT1	6772	broad.mit.edu	37	2	191874731	191874731	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191874731C>A	ENST00000361099.3	-	3	387		c.e3-1		STAT1_ENST00000392322.3_Splice_Site|STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000540176.1_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTGAGACATCCTATAGGGAAA	0.393																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e3-1		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						85.0	79.0	81.0					2																	191874731		2203	4300	6503	SO:0001630	splice_region_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191874731C>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1-1G>T	2.37:g.191874731C>A						STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000392322.3_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000409465.1_Splice_Site		NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		3	387	-								A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Splice_Site	SNP	ENST00000361099.3	37		CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103788	0.37145	.	.	ENSG00000115415	ENST00000392323	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2092	0.86926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT1	191582976	1.000000	0.71417	0.991000	0.47740	0.300000	0.27592	3.282000	0.51693	2.540000	0.85666	0.650000	0.86243	.		0.393	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	Intron	10	73	1	0	0.00621372	1	0.00652201	10	73				
WSB2	55884	broad.mit.edu	37	12	118481168	118481168	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118481168A>G	ENST00000315436.3	-	3	338	c.197T>C	c.(196-198)tTt>tCt	p.F66S	WSB2_ENST00000535496.1_Missense_Mutation_p.F68S|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000441406.2_Missense_Mutation_p.F83S|WSB2_ENST00000542304.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	66					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGCTTCAAACCCTTTAGG	0.488																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(196-198)tTt>tCt		WD repeat and SOCS box containing 2							117.0	124.0	121.0					12																	118481168		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118481168A>G	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.197T>C	12.37:g.118481168A>G	ENSP00000319474:p.Phe66Ser					WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.F68S|WSB2_ENST00000441406.2_Missense_Mutation_p.F83S|WSB2_ENST00000542304.1_5'UTR	p.F66S	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			3	338	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		66					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.197T>C	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	A	8.014	0.758070	0.15846	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.60040	0.46;0.48;0.5;0.22	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.158050	0.06048	N	0.656108	T	0.44603	0.1301	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02150	-1.1205	10	0.16896	T	0.51	-22.5508	14.3095	0.66407	1.0:0.0:0.0:0.0	.	66	Q9NYS7	WSB2_HUMAN	S	66;83;68;68	ENSP00000319474:F66S;ENSP00000409131:F83S;ENSP00000439450:F68S;ENSP00000440386:F68S	ENSP00000319474:F66S	F	-	2	0	WSB2	116965551	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	2.446000	0.44908	2.206000	0.71126	0.529000	0.55759	TTT		0.488	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		9	115	0	0	0	1	0	9	115				
IFI30	10437	broad.mit.edu	37	19	18286467	18286467	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18286467G>A	ENST00000407280.3	+	4	618	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	148				C -> WHG (in Ref. 1; AAA36105). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						ACCATTGTCTGCATGGAAGAG	0.572																																						ENST00000407280.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(442-444)tGc>tAc		interferon, gamma-inducible protein 30							44.0	45.0	45.0					19																	18286467		2012	4192	6204	SO:0001583	missense	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18286467G>A	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.443G>A	19.37:g.18286467G>A	ENSP00000384886:p.Cys148Tyr					PIK3R2_ENST00000593731.1_3'UTR	p.C148Y	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN			4	511	+			148	C -> WHG (in Ref. 1; AAA36105).				Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	c.443G>A	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307591	0.40795	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	D	0.86760	0.6010	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90618	0.4557	8	0.87932	D	0	-10.0353	14.1823	0.65583	0.0:0.0:1.0:0.0	.	148	P13284	GILT_HUMAN	Y	148	.	ENSP00000384886:C148Y	C	+	2	0	IFI30	18147467	1.000000	0.71417	0.983000	0.44433	0.047000	0.14425	4.733000	0.62036	2.451000	0.82905	0.561000	0.74099	TGC		0.572	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		4	4	0	0	0	1	0	4	4				
SSTR3	6753	broad.mit.edu	37	22	37603286	37603286	+	Missense_Mutation	SNP	C	C	T	rs552400624	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37603286C>T	ENST00000328544.3	-	2	1090	c.557G>A	c.(556-558)cGc>cAc	p.R186H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R186H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	186					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCTCATGCCGCGGGGCACTCC	0.726													C|||	6	0.00119808	0.0	0.0	5008	,	,		11367	0.0		0.0	False		,,,				2504	0.0061					ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(556-558)cGc>cAc		somatostatin receptor 3							11.0	14.0	13.0					22																	37603286		2189	4252	6441	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603286C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.557G>A	22.37:g.37603286C>T	ENSP00000330138:p.Arg186His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R186H	p.R186H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1090	-			186					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.557G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356639	0.24598	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.72394	-0.65;-0.65	5.64	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.554100	0.18624	N	0.135787	T	0.53094	0.1775	N	0.20328	0.56	0.09310	N	0.999994	B	0.06786	0.001	B	0.10450	0.005	T	0.38585	-0.9654	10	0.30078	T	0.28	.	9.6463	0.39870	0.0:0.8234:0.0:0.1766	.	186	P32745	SSR3_HUMAN	H	186	ENSP00000330138:R186H;ENSP00000384904:R186H	ENSP00000330138:R186H	R	-	2	0	SSTR3	35933232	0.032000	0.19561	0.389000	0.26208	0.557000	0.35523	1.021000	0.30040	0.699000	0.31761	0.563000	0.77884	CGC		0.726	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			4	8	0	0	0	1	0	4	8				
CHD1	1105	broad.mit.edu	37	5	98193992	98193992	+	Missense_Mutation	SNP	C	C	T	rs72775611	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98193992C>T	ENST00000284049.3	-	34	4828	c.4679G>A	c.(4678-4680)cGa>cAa	p.R1560Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1560					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTGATGTCGGTCTTTATG	0.378																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4678-4680)cGa>cAa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)	C	GLN/ARG	0,4406		0,0,2203	259.0	255.0	256.0		4679	5.3	1.0	5	dbSNP_131	256	6,8594	5.0+/-18.6	0,6,4294	no	missense	CHD1	NM_001270.2	43	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	1560/1711	98193992	6,13000	2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98193992C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4679G>A	5.37:g.98193992C>T	ENSP00000284049:p.Arg1560Gln						p.R1560Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	34	4828	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1560					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4679G>A	CCDS34204.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	15.65	2.897369	0.52121	0.0	6.98E-4	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.90069	-2.61	5.31	5.31	0.75309	.	0.000000	0.30201	U	0.010177	D	0.82737	0.5102	L	0.34521	1.04	0.54753	D	0.999985	P	0.43352	0.804	B	0.33392	0.163	T	0.83245	-0.0056	10	0.36615	T	0.2	.	19.324	0.94254	0.0:1.0:0.0:0.0	.	1560	O14646	CHD1_HUMAN	Q	150;1560	ENSP00000284049:R1560Q	ENSP00000284049:R1560Q	R	-	2	0	CHD1	98221892	1.000000	0.71417	0.984000	0.44739	0.657000	0.38888	5.304000	0.65744	2.635000	0.89317	0.555000	0.69702	CGA		0.378	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		83	142	0	0	0	1	0	83	142				
SOX2	6657	broad.mit.edu	37	3	181430973	181430973	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:181430973C>T	ENST00000325404.1	+	1	1252	c.825C>T	c.(823-825)agC>agT	p.S275S	SOX2_ENST00000431565.2_Silent_p.S275S	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	275					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACATGATCAGCATGTATCTCC	0.692			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"""NSCLC, oesophageal squamous carcinoma"""		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(823-825)agC>agT		SRY (sex determining region Y)-box 2							27.0	27.0	27.0					3																	181430973		2195	4277	6472	SO:0001819	synonymous_variant	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430973C>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.825C>T	3.37:g.181430973C>T						SOX2_ENST00000431565.2_Silent_p.S275S	p.S275S	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1252	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		275					Q14537	Silent	SNP	ENST00000325404.1	37	c.825C>T	CCDS3239.1																																																																																				0.692	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		6	37	0	0	0	1	0	6	37				
YTHDF1	54915	broad.mit.edu	37	20	61828083	61828083	+	Missense_Mutation	SNP	G	G	A	rs534172624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61828083G>A	ENST00000370339.3	-	5	1998	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	YTHDF1_ENST00000370333.4_Missense_Mutation_p.R503W|YTHDF1_ENST00000370334.4_Missense_Mutation_p.R46W	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	553							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CGACTCTGCCGTTCCTGTAAA	0.448																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1657-1659)Cgg>Tgg		YTH domain family, member 1							128.0	109.0	116.0					20																	61828083		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61828083G>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1657C>T	20.37:g.61828083G>A	ENSP00000359364:p.Arg553Trp					YTHDF1_ENST00000370334.4_Missense_Mutation_p.R46W|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R503W	p.R553W	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			5	1998	-			553					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1657C>T	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472916	0.43942	.	.	ENSG00000149658	ENST00000370339;ENST00000370334;ENST00000370333	T;T	0.26660	1.72;1.72	5.24	3.21	0.36854	.	.	.	.	.	T	0.35451	0.0932	L	0.34521	1.04	0.53688	D	0.999978	D	0.89917	1.0	D	0.77557	0.99	T	0.10800	-1.0614	9	0.87932	D	0	.	8.5842	0.33649	0.0785:0.0:0.7683:0.1531	.	553	Q9BYJ9	YTHD1_HUMAN	W	553;46;503	ENSP00000359364:R553W;ENSP00000359358:R503W	ENSP00000359358:R503W	R	-	1	2	YTHDF1	61298528	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	4.208000	0.58486	1.147000	0.42369	0.561000	0.74099	CGG		0.448	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		47	48	0	0	0	1	0	47	48				
NR1D1	9572	broad.mit.edu	37	17	38251886	38251886	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38251886C>A	ENST00000246672.3	-	5	1689	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	353	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CATTTAGGGCCTCGTTATGAC	0.642																																						ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1057-1059)gaG>gaT		nuclear receptor subfamily 1, group D, member 1							117.0	106.0	110.0					17																	38251886		2203	4300	6503	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38251886C>A	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1059G>T	17.37:g.38251886C>A	ENSP00000246672:p.Glu353Asp						p.E353D	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			5	1689	-	Colorectal(19;0.000442)		353					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.1059G>T	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698798	0.30142	.	.	ENSG00000126368	ENST00000246672	D	0.90732	-2.72	4.55	-1.05	0.10036	Nuclear hormone receptor, ligand-binding (1);	0.297172	0.27117	N	0.020852	D	0.83198	0.5202	L	0.51422	1.61	0.26043	N	0.981586	P	0.42649	0.786	B	0.40009	0.316	T	0.75004	-0.3470	10	0.12766	T	0.61	.	8.0343	0.30482	0.0:0.3655:0.0:0.6345	.	353	P20393	NR1D1_HUMAN	D	353	ENSP00000246672:E353D	ENSP00000246672:E353D	E	-	3	2	NR1D1	35505412	0.089000	0.21612	0.993000	0.49108	0.884000	0.51177	-0.198000	0.09505	-0.020000	0.14032	-0.150000	0.13652	GAG		0.642	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			24	45	1	0	5.35356e-11	1	6.64197e-11	24	45				
GJA9	81025	broad.mit.edu	37	1	39340514	39340514	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39340514C>T	ENST00000360786.3	-	1	1509	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	GJA9_ENST00000454994.2_Silent_p.P419P|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Silent_p.P419P			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	419					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TAAGCCACCGCGGTTTCCAAT	0.507																																						ENST00000454994.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1255-1257)ccG>ccA		gap junction protein, alpha 9, 59kDa							93.0	91.0	92.0					1																	39340514		2203	4300	6503	SO:0001819	synonymous_variant	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340514C>T	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1257G>A	1.37:g.39340514C>T						RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.P419P|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Silent_p.P419P	p.P419P			P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1533	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	419					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	c.1257G>A	CCDS432.1																																																																																				0.507	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		15	29	0	0	0	1	0	15	29				
PI4K2B	55300	broad.mit.edu	37	4	25258202	25258202	+	Missense_Mutation	SNP	C	C	T	rs372410115		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25258202C>T	ENST00000264864.6	+	4	851	c.662C>T	c.(661-663)gCg>gTg	p.A221V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A125V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	221	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AACTATAATGCGATTGACCGT	0.353																																						ENST00000264864.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15						c.(661-663)gCg>gTg		phosphatidylinositol 4-kinase type 2 beta		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	114.0	113.0	113.0		662	6.1	1.0	4		113	0,8600		0,0,4300	no	missense	PI4K2B	NM_018323.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	221/482	25258202	1,13005	2203	4300	6503	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25258202C>T	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.662C>T	4.37:g.25258202C>T	ENSP00000264864:p.Ala221Val					PI4K2B_ENST00000512921.1_Missense_Mutation_p.A125V	p.A221V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN			4	851	+		Breast(46;0.173)	221			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.662C>T	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218771	0.79464	2.27E-4	0.0	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T;T	0.76839	-1.05;-1.05	6.07	6.07	0.98685	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.137517	0.64402	D	0.000003	D	0.88800	0.6535	M	0.89095	3.005	0.80722	D	1	D	0.65815	0.995	P	0.62813	0.907	D	0.84829	0.0801	10	0.13108	T	0.6	-3.9333	20.6593	0.99626	0.0:1.0:0.0:0.0	.	221	Q8TCG2	P4K2B_HUMAN	V	125;221;190	ENSP00000423373:A125V;ENSP00000264864:A221V	ENSP00000264864:A221V	A	+	2	0	PI4K2B	24867300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GCG		0.353	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		33	59	0	0	0	1	0	33	59				
LCMT2	9836	broad.mit.edu	37	15	43621357	43621357	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43621357A>G	ENST00000305641.5	-	1	1446	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Missense_Mutation_p.L23S|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	444					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGAACCCCCAAGGCTGGACT	0.488																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1330-1332)tTg>tCg		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						62.0	71.0	68.0					15																	43621357		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621357A>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1331T>C	15.37:g.43621357A>G	ENSP00000307214:p.Leu444Ser					LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.L23S	p.L444S	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1446	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	444					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1331T>C	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.725979	0.00091	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.17054	2.3;2.99	5.11	0.097	0.14492	.	0.601627	0.16606	N	0.207123	T	0.08268	0.0206	L	0.28556	0.865	0.18873	N	0.999981	B	0.12013	0.005	B	0.08055	0.003	T	0.39542	-0.9609	10	0.07644	T	0.81	-17.2879	4.4012	0.11388	0.5151:0.1893:0.2957:0.0	.	444	O60294	LCMT2_HUMAN	S	444;23	ENSP00000307214:L444S;ENSP00000442022:L23S	ENSP00000307214:L444S	L	-	2	0	LCMT2	41408649	0.139000	0.22563	0.377000	0.26055	0.191000	0.23601	1.108000	0.31123	0.103000	0.17682	0.533000	0.62120	TTG		0.488	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		7	73	0	0	0	1	0	7	73				
AFTPH	54812	broad.mit.edu	37	2	64779664	64779664	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779664T>C	ENST00000422803.1	+	2	1370	c.1056T>C	c.(1054-1056)tgT>tgC	p.C352C	AFTPH_ENST00000238855.7_Silent_p.C352C|AFTPH_ENST00000238856.4_Silent_p.C352C|AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000409933.1_Silent_p.C352C			Q6ULP2	AFTIN_HUMAN	aftiphilin	352					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GAGAACAATGTAAAACTGAAG	0.383																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1054-1056)tgT>tgC		aftiphilin							88.0	92.0	91.0					2																	64779664		2203	4300	6503	SO:0001819	synonymous_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779664T>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1056T>C	2.37:g.64779664T>C						AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000409933.1_Silent_p.C352C|AFTPH_ENST00000238855.7_Silent_p.C352C|AFTPH_ENST00000238856.4_Silent_p.C352C	p.C352C			Q6ULP2	AFTIN_HUMAN			2	1370	+			352					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	37	c.1056T>C																																																																																					0.383	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		34	60	0	0	0	1	0	34	60				
PSMA1	5682	broad.mit.edu	37	11	14529285	14529285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14529285C>A	ENST00000396394.2	-	9	1048	c.652G>T	c.(652-654)Gac>Tac	p.D218Y	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.D218Y|PSMA1_ENST00000530457.1_Missense_Mutation_p.D193Y|PSMA1_ENST00000418988.2_Missense_Mutation_p.D224Y	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AACTCCAAGTCTTTACCAACA	0.333																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(577-579)Gac>Tac		proteasome (prosome, macropain) subunit, alpha type, 1							118.0	111.0	114.0					11																	14529285		2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14529285C>A	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.652G>T	11.37:g.14529285C>A	ENSP00000379676:p.Asp218Tyr					PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_Missense_Mutation_p.D218Y|PSMA1_ENST00000396393.1_Missense_Mutation_p.D218Y|PSMA1_ENST00000418988.2_Missense_Mutation_p.D224Y|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR	p.D193Y			P25786	PSA1_HUMAN			9	1107	-			218					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.577G>T	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918349	0.92249	.	.	ENSG00000129084	ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.38	5.38	0.77491	.	0.180158	0.64402	D	0.000018	T	0.62109	0.2401	L	0.53249	1.67	0.80722	D	1	D;D	0.69078	0.987;0.997	P;P	0.57776	0.827;0.761	T	0.64504	-0.6392	10	0.87932	D	0	-16.0305	19.4813	0.95011	0.0:1.0:0.0:0.0	.	224;218	P25786-2;P25786	.;PSA1_HUMAN	Y	218;218;193;224	ENSP00000379676:D218Y;ENSP00000379675:D218Y;ENSP00000441166:D193Y;ENSP00000414359:D224Y	ENSP00000379675:D218Y	D	-	1	0	PSMA1	14485861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.427000	0.66483	2.677000	0.91161	0.561000	0.74099	GAC		0.333	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		30	55	1	0	1.08312e-15	1	1.39118e-15	30	55				
DOCK8	81704	broad.mit.edu	37	9	312006	312006	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:312006T>C	ENST00000453981.1	+	6	693	c.581T>C	c.(580-582)gTc>gCc	p.V194A	DOCK8_ENST00000432829.2_Missense_Mutation_p.V126A|DOCK8_ENST00000469391.1_Missense_Mutation_p.V126A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	194					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAAGGCCCCGTCACTGCCTGT	0.567																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(376-378)gTc>gCc		dedicator of cytokinesis 8							121.0	124.0	123.0					9																	312006		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:312006T>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.581T>C	9.37:g.312006T>C	ENSP00000408464:p.Val194Ala					DOCK8_ENST00000469391.1_Missense_Mutation_p.V126A|DOCK8_ENST00000453981.1_Missense_Mutation_p.V194A	p.V126A	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	6	693	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	194					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.377T>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455768	0.26161	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.16324	2.35;2.35;2.35	5.69	4.54	0.55810	.	0.662303	0.15117	N	0.279638	T	0.08088	0.0202	N	0.08118	0	0.22253	N	0.999253	B;B;B	0.18166	0.0;0.026;0.0	B;B;B	0.14023	0.0;0.01;0.0	T	0.38564	-0.9655	10	0.16420	T	0.52	.	7.9868	0.30216	0.1227:0.0677:0.0:0.8096	.	126;194;194	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	A	194;194;126;126	ENSP00000408464:V194A;ENSP00000394888:V126A;ENSP00000419438:V126A	ENSP00000287364:V194A	V	+	2	0	DOCK8	302006	0.390000	0.25213	0.805000	0.32314	0.890000	0.51754	2.688000	0.46984	0.969000	0.38237	0.460000	0.39030	GTC		0.567	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		5	147	0	0	0	1	0	5	147				
PCLO	27445	broad.mit.edu	37	7	82764321	82764321	+	Missense_Mutation	SNP	C	C	T	rs547726879		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764321C>T	ENST00000333891.9	-	3	2882	c.2545G>A	c.(2545-2547)Gta>Ata	p.V849I	PCLO_ENST00000423517.2_Missense_Mutation_p.V849I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTTTGTACGGGGTCAACT	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18191	0.0		0.0	False		,,,				2504	0.0					ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2545-2547)Gta>Ata		piccolo presynaptic cytomatrix protein							152.0	154.0	154.0					7																	82764321		1926	4131	6057	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764321C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2545G>A	7.37:g.82764321C>T	ENSP00000334319:p.Val849Ile					PCLO_ENST00000333891.8_Missense_Mutation_p.V849I	p.V849I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2882	-			795			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2545G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172127	0.21704	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.37	5.98	2.05	0.26809	.	.	.	.	.	T	0.12518	0.0304	L	0.31294	0.92	0.80722	D	1	B;B	0.19331	0.035;0.035	B;B	0.11329	0.006;0.006	T	0.07424	-1.0773	9	0.87932	D	0	.	9.565	0.39394	0.0:0.7049:0.0:0.2951	.	849;849	Q9Y6V0-5;Q9Y6V0-6	.;.	I	795;849;849	ENSP00000334319:V849I;ENSP00000388393:V849I	ENSP00000334319:V849I	V	-	1	0	PCLO	82602257	0.001000	0.12720	0.490000	0.27465	0.843000	0.47879	-0.414000	0.07114	0.092000	0.17331	0.655000	0.94253	GTA		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		76	213	0	0	0	1	0	76	213				
GABBR1	2550	broad.mit.edu	37	6	29589570	29589570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29589570C>T	ENST00000377034.4	-	10	1425	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R|GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	364					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TAGAAAAGTCCCACGATGATT	0.527																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1090-1092)Gga>Aga		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						59.0	62.0	61.0					6																	29589570		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29589570C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1090G>A	6.37:g.29589570C>T	ENSP00000366233:p.Gly364Arg					GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R|GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R	p.G364R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			10	1425	-			364					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1090G>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974923	0.92919	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	4.55	4.55	0.56014	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.90650	3.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.92872	0.6315	10	0.87932	D	0	-18.7639	14.8382	0.70201	0.0:1.0:0.0:0.0	.	364;302;364;247	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	R	247;364;302;247;364	ENSP00000348248:G247R;ENSP00000366176:G364R;ENSP00000366215:G302R;ENSP00000366211:G247R;ENSP00000366233:G364R	ENSP00000348248:G247R	G	-	1	0	GABBR1	29697549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.793000	0.75130	2.381000	0.81170	0.637000	0.83480	GGA		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			18	39	0	0	0	1	0	18	39				
ACCS	84680	broad.mit.edu	37	11	44104852	44104852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44104852C>T	ENST00000263776.8	+	13	1679	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	415					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGGTTGACTTGAGAAAGG	0.577																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(1243-1245)gaC>gaT		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							88.0	81.0	84.0					11																	44104852		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44104852C>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1245C>T	11.37:g.44104852C>T							p.D415D	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			13	1679	+			415					B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	c.1245C>T	CCDS7907.1																																																																																				0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		7	45	0	0	0	1	0	7	45				
U2SURP	23350	broad.mit.edu	37	3	142731109	142731109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142731109C>T	ENST00000473835.2	+	3	226	c.136C>T	c.(136-138)Cga>Tga	p.R46*	U2SURP_ENST00000493598.2_Nonsense_Mutation_p.R46*|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	46					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAGTCGGACACGACCTAAGAG	0.378																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(136-138)Cga>Tga		U2 snRNP-associated SURP domain containing							102.0	91.0	95.0					3																	142731109		1851	4079	5930	SO:0001587	stop_gained	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142731109C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.136C>T	3.37:g.142731109C>T	ENSP00000418563:p.Arg46*					U2SURP_ENST00000493598.2_Nonsense_Mutation_p.R46*|U2SURP_ENST00000397933.2_5'UTR	p.R46*	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			3	226	+			46					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Nonsense_Mutation	SNP	ENST00000473835.2	37	c.136C>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	38	6.778938	0.97833	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	.	.	.	5.66	4.77	0.60923	.	0.000000	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5527	12.0552	0.53531	0.1722:0.8278:0.0:0.0	.	.	.	.	X	46;46;46;46;16	.	ENSP00000322376:R46X	R	+	1	2	U2SURP	144213799	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	1.317000	0.33631	1.468000	0.48064	0.655000	0.94253	CGA		0.378	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		3	22	0	0	0	1	0	3	22				
ANPEP	290	broad.mit.edu	37	15	90349357	90349357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90349357G>A	ENST00000300060.6	-	2	771	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	153	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CACCAGCTCAGTCTTGTCAAT	0.607																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(457-459)aCt>aTt		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						82.0	75.0	78.0					15																	90349357		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349357G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.458C>T	15.37:g.90349357G>A	ENSP00000300060:p.Thr153Ile						p.T153I	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	771	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		153			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.458C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	8.424	0.847069	0.17034	.	.	ENSG00000166825	ENST00000300060	T	0.02631	4.22	5.07	3.12	0.35913	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.415210	0.28241	N	0.016071	T	0.04407	0.0121	L	0.39020	1.185	0.09310	N	1	P	0.51449	0.945	P	0.56788	0.806	T	0.38564	-0.9655	10	0.19147	T	0.46	.	3.1642	0.06530	0.0955:0.1778:0.543:0.1837	.	153	P15144	AMPN_HUMAN	I	153	ENSP00000300060:T153I	ENSP00000300060:T153I	T	-	2	0	ANPEP	88150361	0.005000	0.15991	0.006000	0.13384	0.136000	0.21042	1.417000	0.34770	1.068000	0.40764	0.563000	0.77884	ACT		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			16	39	0	0	0	1	0	16	39				
NAA25	80018	broad.mit.edu	37	12	112509781	112509781	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112509781G>A	ENST00000261745.4	-	10	1202	c.954C>T	c.(952-954)cgC>cgT	p.R318R	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	318						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCGGAGATGGCGAGAACTTT	0.403																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(952-954)cgC>cgT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							162.0	131.0	141.0					12																	112509781		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112509781G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.954C>T	12.37:g.112509781G>A							p.R318R	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			10	1202	-			318					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.954C>T	CCDS9159.1																																																																																				0.403	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		4	45	0	0	0	1	0	4	45				
ILF3	3609	broad.mit.edu	37	19	10794426	10794426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794426G>T	ENST00000590261.1	+	15	1966	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	ILF3_ENST00000592763.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000407004.3_Nonsense_Mutation_p.G660*|ILF3_ENST00000589998.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.G656*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.G656*|ILF3_ENST00000449870.1_Nonsense_Mutation_p.G660*			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	656	Arg/Gly-rich.|Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGCGGGCGAGGATTTGGTGG	0.652																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1978-1980)Gga>Tga		interleukin enhancer binding factor 3, 90kDa							44.0	56.0	52.0					19																	10794426		2202	4298	6500	SO:0001587	stop_gained	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10794426G>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1966G>T	19.37:g.10794426G>T	ENSP00000468156:p.Gly656*					ILF3_ENST00000589998.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.G656*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.G656*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000590261.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000407004.3_Nonsense_Mutation_p.G660*	p.G660*	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		16	2295	+			656			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Nonsense_Mutation	SNP	ENST00000590261.1	37	c.1978G>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	42	9.339917	0.99142	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	.	.	.	5.84	5.84	0.93424	.	0.065091	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.9061	0.92462	0.0:0.0:1.0:0.0	.	.	.	.	X	656;660;656;656;660;656	.	ENSP00000250241:G656X	G	+	1	0	ILF3	10655426	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.836000	0.75349	2.765000	0.95021	0.655000	0.94253	GGA		0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			10	20	1	0	2.17888e-05	1	2.45068e-05	10	20				
ABCD1	215	broad.mit.edu	37	X	152991339	152991339	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991339C>T	ENST00000218104.3	+	1	1017	c.618C>T	c.(616-618)gcC>gcT	p.A206A	ABCD1_ENST00000370129.4_Silent_p.A21A|BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000458587.2_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	206	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGCGGCCTCTGTGGCCC	0.642																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(616-618)gcC>gcT		ATP-binding cassette, sub-family D (ALD), member 1							72.0	67.0	69.0					X																	152991339		2203	4300	6503	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991339C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.618C>T	X.37:g.152991339C>T						ABCD1_ENST00000370129.4_Silent_p.A21A	p.A206A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	1017	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		206			ABC transmembrane type-1.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.618C>T	CCDS14728.1																																																																																				0.642	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		17	29	0	0	0	1	0	17	29				
VPS11	55823	broad.mit.edu	37	11	118948752	118948752	+	Silent	SNP	C	C	T	rs375492582		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118948752C>T	ENST00000300793.6	+	11	1776	c.1734C>T	c.(1732-1734)agC>agT	p.S578S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	579					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AAGGCCGCAGCGATAGGGAGG	0.562																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(1732-1734)agC>agT		vacuolar protein sorting 11 homolog (S. cerevisiae)							87.0	88.0	88.0					11																	118948752		1961	4156	6117	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118948752C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1734C>T	11.37:g.118948752C>T						VPS11_ENST00000527798.1_3'UTR	p.S578S	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	11	1776	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	579					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.1734C>T																																																																																					0.562	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		41	51	0	0	0	1	0	41	51				
PLEKHG1	57480	broad.mit.edu	37	6	151125863	151125863	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151125863G>A	ENST00000358517.2	+	7	1109	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A300T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	300							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACACGAGCACGCGGTCCGGTT	0.512																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(898-900)Gcg>Acg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							75.0	67.0	70.0					6																	151125863		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151125863G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.898G>A	6.37:g.151125863G>A	ENSP00000351318:p.Ala300Thr					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A300T	p.A300T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	8	1210	+			300					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.898G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.057610	0.97241	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.88124	-2.34;-2.34	6.17	6.17	0.99709	Dbl homology (DH) domain (2);	0.045428	0.85682	D	0.000000	D	0.93517	0.7931	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.922;0.999;0.999	D	0.92773	0.6234	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	107;300;300	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	T	300	ENSP00000356297:A300T;ENSP00000351318:A300T	ENSP00000351318:A300T	A	+	1	0	PLEKHG1	151167556	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	6.585000	0.74062	2.941000	0.99782	0.655000	0.94253	GCG		0.512	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			19	28	0	0	0	1	0	19	28				
ABCC3	8714	broad.mit.edu	37	17	48757159	48757159	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48757159G>T	ENST00000285238.8	+	26	3786	c.3706G>T	c.(3706-3708)Gtg>Ttg	p.V1236L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1236	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CTTTGGCCAGGTGACATTTGC	0.512																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.e26-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						177.0	142.0	154.0					17																	48757159		2203	4300	6503	SO:0001630	splice_region_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48757159G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3706-1G>T	17.37:g.48757159G>T							p.V1236_splice	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		26	3786	+			1236			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Splice_Site	SNP	ENST00000285238.8	37	c.3705_splice	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195315	0.78902	.	.	ENSG00000108846	ENST00000285238	D	0.87412	-2.25	4.79	3.79	0.43588	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.074619	0.53938	D	0.000048	D	0.87661	0.6233	L	0.54965	1.715	0.80722	D	1	P	0.40431	0.717	P	0.48089	0.566	D	0.87446	0.2398	10	0.72032	D	0.01	-13.2513	12.1595	0.54096	0.0868:0.0:0.9132:0.0	.	1236	O15438	MRP3_HUMAN	L	1236	ENSP00000285238:V1236L	ENSP00000285238:V1236L	V	+	1	0	ABCC3	46112158	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.634000	0.61325	0.932000	0.37266	0.655000	0.94253	GTG		0.512	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038	Missense_Mutation	9	39	1	0	3.09899e-07	1	3.63227e-07	9	39				
DSC1	1823	broad.mit.edu	37	18	28725648	28725648	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28725648C>A	ENST00000257198.5	-	7	1126	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.D289Y	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	289	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTGGATGATCTGGGATTTGT	0.408																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(865-867)Gat>Tat		desmocollin 1							205.0	202.0	203.0					18																	28725648		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725648C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.865G>T	18.37:g.28725648C>A	ENSP00000257198:p.Asp289Tyr					DSC1_ENST00000257198.5_Missense_Mutation_p.D289Y|RP11-408H20.2_ENST00000581836.1_RNA	p.D289Y	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1126	-			289			Cadherin 2.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.865G>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348144	0.41599	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61510	0.1;0.1	5.32	3.52	0.40303	Cadherin (4);Cadherin-like (1);	0.408437	0.20328	N	0.094495	T	0.58595	0.2133	M	0.76838	2.35	0.09310	N	1	P;P	0.46784	0.884;0.884	P;P	0.44732	0.459;0.459	T	0.56577	-0.7956	10	0.72032	D	0.01	.	6.1055	0.20071	0.0:0.5451:0.2937:0.1612	.	289;289	Q08554;Q9HB00	DSC1_HUMAN;.	Y	289	ENSP00000257197:D289Y;ENSP00000257198:D289Y	ENSP00000257197:D289Y	D	-	1	0	DSC1	26979646	0.001000	0.12720	0.035000	0.18076	0.877000	0.50540	0.065000	0.14466	0.610000	0.30035	0.484000	0.47621	GAT		0.408	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		33	73	1	0	2.42023e-17	1	3.13592e-17	33	73				
TXNIP	10628	broad.mit.edu	37	1	145441193	145441193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145441193G>A	ENST00000369317.4	+	8	1485	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	384					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGATCCCTGCATCCTCAAC	0.383																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(1150-1152)tGc>tAc		thioredoxin interacting protein							118.0	110.0	113.0					1																	145441193		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145441193G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1151G>A	1.37:g.145441193G>A	ENSP00000358323:p.Cys384Tyr					TXNIP_ENST00000475171.1_3'UTR	p.C384Y	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			8	1485	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		384					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.1151G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	9.410	1.080348	0.20309	.	.	ENSG00000117289	ENST00000369317	T	0.07800	3.16	4.93	3.02	0.34903	.	0.967019	0.08626	N	0.917764	T	0.06096	0.0158	N	0.22421	0.69	0.19575	N	0.999961	B;P	0.51240	0.38;0.943	B;P	0.58013	0.085;0.831	T	0.44097	-0.9350	10	0.49607	T	0.09	-10.4576	11.4182	0.49965	0.0:0.3532:0.6468:0.0	.	329;384	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	Y	384	ENSP00000358323:C384Y	ENSP00000358323:C384Y	C	+	2	0	TXNIP	144152550	0.887000	0.30362	0.251000	0.24312	0.753000	0.42808	1.499000	0.35671	0.647000	0.30713	0.655000	0.94253	TGC		0.383	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		9	41	0	0	0	1	0	9	41				
DNASE1	1773	broad.mit.edu	37	16	3706173	3706173	+	Missense_Mutation	SNP	C	C	A	rs200188411	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3706173C>A	ENST00000246949.5	+	4	3516	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	DNASE1_ENST00000407479.1_Missense_Mutation_p.L103M|DNASE1_ENST00000414110.2_Silent_p.T23T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	103					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		GGAGCGCTACCTGTTCGTGTA	0.542																																						ENST00000246949.5																			0				lung(1)	1						c.(307-309)Ctg>Atg		deoxyribonuclease I	Dornase Alfa(DB00003)						80.0	72.0	74.0					16																	3706173		2197	4300	6497	SO:0001583	missense	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3706173C>A		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.307C>A	16.37:g.3706173C>A	ENSP00000246949:p.Leu103Met					DNASE1_ENST00000407479.1_Missense_Mutation_p.L103M|DNASE1_ENST00000414110.2_Silent_p.T23T	p.L103M	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	4	3516	+		Ovarian(90;0.0261)	103					B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	c.307C>A	CCDS10507.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286375	0.59867	.	.	ENSG00000213918	ENST00000407479;ENST00000246949	T;T	0.51071	0.72;0.72	4.95	4.95	0.65309	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69401	-0.5155	10	0.46703	T	0.11	-8.7966	13.3263	0.60461	0.0:0.7166:0.2834:0.0	.	103	P24855	DNAS1_HUMAN	M	103	ENSP00000385905:L103M;ENSP00000246949:L103M	ENSP00000246949:L103M	L	+	1	2	DNASE1	3646174	1.000000	0.71417	0.999000	0.59377	0.684000	0.39900	2.193000	0.42658	2.293000	0.77203	0.561000	0.74099	CTG		0.542	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			13	22	1	0	4.3838e-07	1	5.12524e-07	13	22				
SRMS	6725	broad.mit.edu	37	20	62178752	62178752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62178752G>A	ENST00000217188.1	-	1	105	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	22	N-terminal.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTCGCCGCCCGCCGGCCAGAT	0.716																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(64-66)gCg>gTg		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							43.0	48.0	46.0					20																	62178752		2103	4111	6214	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178752G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.65C>T	20.37:g.62178752G>A	ENSP00000217188:p.Ala22Val						p.A22V	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	105	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		22						Missense_Mutation	SNP	ENST00000217188.1	37	c.65C>T	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	2.349	-0.349302	0.05173	.	.	ENSG00000125508	ENST00000217188	T	0.75154	-0.91	3.94	0.668	0.17912	.	1.108960	0.06930	N	0.810959	T	0.53094	0.1775	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.26744	-1.0094	10	0.15066	T	0.55	.	0.7705	0.01023	0.1885:0.2386:0.312:0.261	.	22	Q9H3Y6	SRMS_HUMAN	V	22	ENSP00000217188:A22V	ENSP00000217188:A22V	A	-	2	0	SRMS	61649196	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.570000	0.05895	-0.063000	0.13065	-1.337000	0.01257	GCG		0.716	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		58	59	0	0	0	1	0	58	59				
L3MBTL3	84456	broad.mit.edu	37	6	130372423	130372423	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:130372423A>C	ENST00000529410.1	+	8	798	c.319A>C	c.(319-321)Agg>Cgg	p.R107R	L3MBTL3_ENST00000361794.2_Silent_p.R107R|L3MBTL3_ENST00000368139.2_Silent_p.R82R|L3MBTL3_ENST00000533560.1_Silent_p.R82R|L3MBTL3_ENST00000526019.1_Silent_p.R82R|L3MBTL3_ENST00000368136.2_Silent_p.R107R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	107					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GATGCCTTTCAGGTTGAAGGA	0.388																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(319-321)Agg>Cgg		l(3)mbt-like 3 (Drosophila)							121.0	117.0	118.0					6																	130372423		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130372423A>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.319A>C	6.37:g.130372423A>C						L3MBTL3_ENST00000526019.1_Silent_p.R82R|L3MBTL3_ENST00000533560.1_Silent_p.R82R|L3MBTL3_ENST00000368136.2_Silent_p.R107R|L3MBTL3_ENST00000368139.2_Silent_p.R82R|L3MBTL3_ENST00000361794.2_Silent_p.R107R	p.R107R			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	8	798	+			107					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.319A>C	CCDS34537.1																																																																																				0.388	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		36	51	0	0	0	1	0	36	51				
CSDE1	7812	broad.mit.edu	37	1	115267955	115267955	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267955C>T	ENST00000358528.4	-	15	2067		c.e15-1		CSDE1_ENST00000438362.2_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000369530.1_Splice_Site	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAACTCACTAAGGAGAAA	0.408																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e15-1		cold shock domain containing E1, RNA-binding							150.0	141.0	144.0					1																	115267955		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115267955C>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1641-1G>A	1.37:g.115267955C>T						CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site		NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2157	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37		CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507971	0.85282	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.635	0.95728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSDE1	115069478	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	7.120000	0.77153	2.639000	0.89480	0.557000	0.71058	.		0.408	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Intron	8	96	0	0	0	1	0	8	96				
RPS6KB1	6198	broad.mit.edu	37	17	58024066	58024066	+	Nonsense_Mutation	SNP	C	C	T	rs149039467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58024066C>T	ENST00000225577.4	+	15	1516	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.R476*|RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.R446*	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	499	Autoinhibitory domain.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTTCCAATACGACAGCCGAA	0.473																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1495-1497)Cga>Tga		ribosomal protein S6 kinase, 70kDa, polypeptide 1		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	61.0	65.0		1495	3.2	1.0	17	dbSNP_134	65	0,8600		0,0,4300	no	stop-gained	RPS6KB1	NM_003161.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		499/526	58024066	1,13005	2203	4300	6503	SO:0001587	stop_gained	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58024066C>T	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1495C>T	17.37:g.58024066C>T	ENSP00000225577:p.Arg499*					RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.R476*|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.R446*|RPS6KB1_ENST00000406116.3_Intron	p.R499*	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		15	1516	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		499			Autoinhibitory domain.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Nonsense_Mutation	SNP	ENST00000225577.4	37	c.1495C>T	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963550	0.74016	2.27E-4	0.0	ENSG00000108443	ENST00000443572;ENST00000225577;ENST00000393021	.	.	.	5.23	3.25	0.37280	.	0.103375	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4204	0.21740	0.1464:0.7025:0.0:0.1511	.	.	.	.	X	476;499;446	.	ENSP00000225577:R499X	R	+	1	2	RPS6KB1	55378848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.288000	0.33296	0.594000	0.29761	0.655000	0.94253	CGA		0.473	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		17	32	0	0	0	1	0	17	32				
IGLV11-55	28770	broad.mit.edu	37	22	22556492	22556492	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22556492C>A	ENST00000390286.2	+	0	318									immunoglobulin lambda variable 11-55 (non-functional)																		TTTTGCTCATCTCTGGGCTCC	0.517																																						ENST00000390286.2																			0																				80.0	81.0	81.0					22																	22556492		1946	4149	6095			0							g.chr22:22556492C>A	D86996		22q11.2	2012-02-08	2008-09-15		ENSG00000211641	ENSG00000211641		"""Immunoglobulins / IGL locus"""	5886	other	immunoglobulin gene			"""immunoglobulin lambda variable 11-55"""				Standard	NG_000002		Approved				OTTHUMG00000150995		22.37:g.22556492C>A														0	318	+									RNA	SNP	ENST00000390286.2	37																																																																																						0.517	IGLV11-55-001	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320860.3	NG_000002		5	67	1	0	0.014758	1	0.0152625	5	67				
THBS2	7058	broad.mit.edu	37	6	169622519	169622519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622519C>T	ENST00000366787.3	-	20	3295	c.3046G>A	c.(3046-3048)Gta>Ata	p.V1016I	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1016	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCAGTGTTTACGTAGAATGTG	0.522																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(3046-3048)Gta>Ata		thrombospondin 2							97.0	93.0	94.0					6																	169622519		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169622519C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3046G>A	6.37:g.169622519C>T	ENSP00000355751:p.Val1016Ile					XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.V1016I	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	20	3295	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1016			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3046G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.529110	0.27387	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.91295	-2.82	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36972	U	0.002305	D	0.83008	0.5161	N	0.25380	0.74	0.40612	D	0.981688	P	0.51240	0.943	P	0.54100	0.742	T	0.80903	-0.1174	10	0.19147	T	0.46	-44.8643	10.4394	0.44455	0.0:0.9092:0.0:0.0908	.	1016	P35442	TSP2_HUMAN	I	1016;274	ENSP00000355751:V1016I	ENSP00000355751:V1016I	V	-	1	0	THBS2	169364444	1.000000	0.71417	0.709000	0.30452	0.060000	0.15804	4.500000	0.60387	1.927000	0.55829	0.478000	0.44815	GTA		0.522	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		23	37	0	0	0	1	0	23	37				
DNAJC3	5611	broad.mit.edu	37	13	96377474	96377474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96377474C>T	ENST00000602402.1	+	4	478	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	DNAJC3_ENST00000376795.6_Missense_Mutation_p.L121F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	121					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAAGGAAAACTTGATGAAGC	0.299																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(361-363)Ctt>Ttt		DnaJ (Hsp40) homolog, subfamily C, member 3							64.0	66.0	65.0					13																	96377474		2203	4289	6492	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96377474C>T	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.361C>T	13.37:g.96377474C>T	ENSP00000473631:p.Leu121Phe					DNAJC3_ENST00000376795.6_Missense_Mutation_p.L121F	p.L121F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		4	478	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		121					Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.361C>T	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186565	0.38609	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.298810	0.38111	N	0.001816	T	0.37652	0.1011	N	0.12527	0.23	0.80722	D	1	B;B	0.21452	0.056;0.056	B;B	0.27608	0.081;0.081	T	0.25433	-1.0132	9	0.08381	T	0.77	-20.2796	12.7878	0.57516	0.0:0.9212:0.0:0.0788	.	121;121	A8KA82;Q13217	.;DNJC3_HUMAN	F	121	.	ENSP00000365991:L121F	L	+	1	0	DNAJC3	95175475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.942000	0.56614	2.719000	0.93026	0.573000	0.79308	CTT		0.299	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			4	53	0	0	0	1	0	4	53				
CACNA1G	8913	broad.mit.edu	37	17	48655849	48655849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655849G>A	ENST00000359106.5	+	9	2225	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	CACNA1G_ENST00000510366.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S742N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	742					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTGTGGACAGCAAGTACTTT	0.592																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(2224-2226)aGc>aAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						77.0	80.0	79.0					17																	48655849		2036	4205	6241	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655849G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2225G>A	17.37:g.48655849G>A	ENSP00000352011:p.Ser742Asn					CACNA1G_ENST00000515765.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S742N	p.S742N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2597	+	Breast(11;6.7e-17)		742					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.2225G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	28.1	4.893169	0.91889	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.99;1.0;0.997;0.985;0.991;0.995;0.992;0.997;0.992;0.865;0.998;1.0;1.0;0.999;0.995;1.0;1.0;0.999;0.999;1.0;0.987;1.0;0.998;1.0;0.993;1.0	D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.937;1.0;0.993;0.968;0.979;0.985;0.958;0.995;0.958;0.851;0.993;1.0;0.999;0.998;0.958;0.996;0.998;0.997;0.993;0.999;0.914;0.999;0.993;1.0;0.979;0.999	D	0.99327	1.0908	10	0.51188	T	0.08	.	18.2558	0.90019	0.0:0.0:1.0:0.0	.	742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742;742	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	742	ENSP00000353990:S742N;ENSP00000339302:S742N;ENSP00000392390:S742N;ENSP00000347078:S742N;ENSP00000409759:S742N;ENSP00000425522:S742N;ENSP00000426261:S742N;ENSP00000425451:S742N;ENSP00000422407:S742N;ENSP00000426814:S742N;ENSP00000427238:S742N;ENSP00000423112:S742N;ENSP00000420918:S742N;ENSP00000426172:S742N;ENSP00000423045:S742N;ENSP00000427173:S742N;ENSP00000426098:S742N;ENSP00000425698:S742N;ENSP00000426232:S742N;ENSP00000423317:S742N;ENSP00000350979:S742N;ENSP00000352011:S742N;ENSP00000414388:S742N;ENSP00000423155:S742N;ENSP00000422268:S742N;ENSP00000421518:S742N	ENSP00000339302:S742N	S	+	2	0	CACNA1G	46010848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.311000	0.77944	0.655000	0.94253	AGC		0.592	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	62	0	0	0	1	0	10	62				
SLC26A10	65012	broad.mit.edu	37	12	58016897	58016897	+	Missense_Mutation	SNP	G	G	A	rs374550950		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016897G>A	ENST00000320442.4	+	7	1341	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	SLC26A10_ENST00000379218.2_Missense_Mutation_p.V344M	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	344						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CAATCTACTGGTGGATGCTGG	0.567																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(1030-1032)Gtg>Atg		solute carrier family 26, member 10							153.0	141.0	145.0					12																	58016897		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58016897G>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1030G>A	12.37:g.58016897G>A	ENSP00000320217:p.Val344Met					SLC26A10_ENST00000320442.4_Missense_Mutation_p.V344M	p.V344M			Q8NG04	S2610_HUMAN			7	1341	+	Melanoma(17;0.122)		344					A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.1030G>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	21.8	4.201420	0.79015	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.93906	-3.31;-3.31	3.78	3.78	0.43462	Sulphate transporter (1);	.	.	.	.	D	0.93038	0.7784	N	0.21194	0.64	0.36901	D	0.890409	D	0.76494	0.999	D	0.73708	0.981	D	0.93080	0.6490	9	0.36615	T	0.2	.	13.9676	0.64218	0.0:0.0:1.0:0.0	.	344	Q8NG04	S2610_HUMAN	M	344	ENSP00000320217:V344M;ENSP00000368520:V344M	ENSP00000320217:V344M	V	+	1	0	SLC26A10	56303164	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	8.197000	0.89727	2.403000	0.81681	0.655000	0.94253	GTG		0.567	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			65	92	0	0	0	1	0	65	92				
SCAF1	58506	broad.mit.edu	37	19	50155744	50155744	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50155744G>A	ENST00000360565.3	+	7	2222	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	700	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGACCTCTTCGCCATCAAGCG	0.701																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(2098-2100)Gcc>Acc		SR-related CTD-associated factor 1							22.0	21.0	21.0					19																	50155744		2194	4299	6493	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155744G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2098G>A	19.37:g.50155744G>A	ENSP00000353769:p.Ala700Thr						p.A700T	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2222	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	700			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.2098G>A	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538556	0.45176	.	.	ENSG00000126461	ENST00000360565	T	0.30448	1.53	3.7	2.59	0.31030	.	0.214387	0.23569	N	0.046766	T	0.11452	0.0279	N	0.14661	0.345	0.36756	D	0.883012	B	0.32409	0.37	B	0.20384	0.029	T	0.12941	-1.0528	9	.	.	.	-22.2253	2.7587	0.05300	0.2339:0.0:0.5109:0.2552	.	700	Q9H7N4	SFR19_HUMAN	T	700	ENSP00000353769:A700T	.	A	+	1	0	SCAF1	54847556	0.997000	0.39634	0.978000	0.43139	0.949000	0.60115	2.710000	0.47169	1.918000	0.55548	0.561000	0.74099	GCC		0.701	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		8	11	0	0	0	1	0	8	11				
HDAC2	3066	broad.mit.edu	37	6	114279819	114279819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:114279819G>A	ENST00000519065.1	-	3	653	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	HDAC2_ENST00000368632.2_Nonsense_Mutation_p.Q63*|HDAC2_ENST00000398283.2_Nonsense_Mutation_p.Q187*|HDAC2_ENST00000519108.1_Nonsense_Mutation_p.Q63*			Q92769	HDAC2_HUMAN	histone deacetylase 2	93	Histone deacetylase.			QR -> HI (in Ref. 1; AAC50814). {ECO:0000305}.	ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GTACATCTCTGCATCTGCTTA	0.318																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(277-279)Cag>Tag		histone deacetylase 2	Vorinostat(DB02546)						119.0	112.0	115.0					6																	114279819		1874	4131	6005	SO:0001587	stop_gained	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114279819G>A	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.277C>T	6.37:g.114279819G>A	ENSP00000430432:p.Gln93*					HDAC2_ENST00000519108.1_Nonsense_Mutation_p.Q63*|HDAC2_ENST00000398283.2_Nonsense_Mutation_p.Q187*|HDAC2_ENST00000368632.2_Nonsense_Mutation_p.Q63*	p.Q93*			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	3	653	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	93	QR -> HI (in Ref. 1; AAC50814).		Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Nonsense_Mutation	SNP	ENST00000519065.1	37	c.277C>T	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	37	6.055630	0.97241	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632;ENST00000425835;ENST00000523628;ENST00000521610;ENST00000522371;ENST00000521163;ENST00000518690;ENST00000523240	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-10.0992	19.7164	0.96122	0.0:0.0:1.0:0.0	.	.	.	.	X	93;187;63;63;83;63;63;63;100;63;63	.	ENSP00000357621:Q63X	Q	-	1	0	HDAC2	114386512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.521000	0.98029	2.662000	0.90505	0.650000	0.86243	CAG		0.318	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			39	57	0	0	0	1	0	39	57				
DRC7	84229	broad.mit.edu	37	16	57741392	57741392	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57741392G>A	ENST00000360716.3	+	8	1100	c.879G>A	c.(877-879)ccG>ccA	p.P293P	CCDC135_ENST00000394337.4_Silent_p.P293P|CCDC135_ENST00000336825.8_Silent_p.P228P			Q8IY82	CC135_HUMAN		293					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGGCAAAGCCGGATGCCCTGC	0.607																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(877-879)ccG>ccA		coiled-coil domain containing 135							48.0	49.0	49.0					16																	57741392		2198	4300	6498	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57741392G>A																												ENST00000360716.3:c.879G>A	16.37:g.57741392G>A						CCDC135_ENST00000394337.4_Silent_p.P293P|CCDC135_ENST00000336825.8_Silent_p.P228P	p.P293P			Q8IY82	CC135_HUMAN			8	1100	+			293					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.879G>A	CCDS10787.1																																																																																				0.607	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			13	21	0	0	0	1	0	13	21				
ALDH4A1	8659	broad.mit.edu	37	1	19202874	19202874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19202874C>T	ENST00000375341.3	-	12	1530	c.1273G>A	c.(1273-1275)Gtg>Atg	p.V425M	ALDH4A1_ENST00000538839.1_Intron|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V425M|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V365M|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	425					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTAGCCCACGGAGTCATCA	0.637																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(1273-1275)Gtg>Atg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						60.0	50.0	53.0					1																	19202874		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19202874C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1273G>A	1.37:g.19202874C>T	ENSP00000364490:p.Val425Met					ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V425M|ALDH4A1_ENST00000538839.1_Intron|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V365M	p.V425M	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	12	1530	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	425					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.1273G>A	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030636	0.75504	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538309	T;T;T	0.76060	-0.99;-0.99;-0.99	4.88	3.96	0.45880	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.114854	0.56097	D	0.000023	T	0.81721	0.4882	M	0.66506	2.035	0.40753	D	0.982936	D	0.62365	0.991	P	0.60236	0.871	T	0.82764	-0.0296	10	0.49607	T	0.09	-29.5797	13.2159	0.59859	0.1605:0.8395:0.0:0.0	.	425	P30038	AL4A1_HUMAN	M	425;425;365	ENSP00000290597:V425M;ENSP00000364490:V425M;ENSP00000442988:V365M	ENSP00000290597:V425M	V	-	1	0	ALDH4A1	19075461	0.998000	0.40836	0.802000	0.32245	0.945000	0.59286	3.502000	0.53332	1.048000	0.40298	-0.314000	0.08810	GTG		0.637	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			21	21	0	0	0	1	0	21	21				
IFIT1B	439996	broad.mit.edu	37	10	91144325	91144325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91144325C>A	ENST00000371809.3	+	2	1335	c.1255C>A	c.(1255-1257)Ctc>Atc	p.L419I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	419										endometrium(2)|large_intestine(3)|lung(8)	13						GGAAAAACTTCTCAATGCTTT	0.373																																						ENST00000371809.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(1255-1257)Ctc>Atc		interferon-induced protein with tetratricopeptide repeats 1B							108.0	112.0	111.0					10																	91144325		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91144325C>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1255C>A	10.37:g.91144325C>A	ENSP00000360874:p.Leu419Ile					LIPA_ENST00000371837.1_Intron	p.L419I	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN			2	1335	+			419					A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.1255C>A	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080989	0.20309	.	.	ENSG00000204010	ENST00000371809	T	0.39056	1.1	4.02	-2.52	0.06346	Tetratricopeptide-like helical (1);	1.155740	0.06287	N	0.698515	T	0.30634	0.0771	N	0.25485	0.75	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.29212	-1.0019	10	0.21540	T	0.41	.	14.6168	0.68556	0.784:0.216:0.0:0.0	.	419	Q5T764	IFT1B_HUMAN	I	419	ENSP00000360874:L419I	ENSP00000360874:L419I	L	+	1	0	IFIT1B	91134305	0.000000	0.05858	0.000000	0.03702	0.690000	0.40134	-0.267000	0.08619	-0.305000	0.08831	0.558000	0.71614	CTC		0.373	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		13	128	1	0	7.93312e-07	1	9.21973e-07	13	128				
KATNAL2	83473	broad.mit.edu	37	18	44589659	44589659	+	Missense_Mutation	SNP	G	G	A	rs201022181		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44589659G>A	ENST00000245121.5	+	7	631	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R218Q|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATCAGGAACGACTGCTGAAA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16978	0.0		0.001	False		,,,				2504	0.0					ENST00000245121.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						c.(436-438)cGa>cAa		katanin p60 subunit A-like 2							87.0	86.0	86.0					18																	44589659		2203	4300	6503	SO:0001583	missense	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44589659G>A	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.437G>A	18.37:g.44589659G>A	ENSP00000245121:p.Arg146Gln					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.R218Q	p.R146Q	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN			7	631	+			218						Missense_Mutation	SNP	ENST00000245121.5	37	c.437G>A	CCDS32828.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.3	3.960895	0.74016	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.94457	-3.4;-3.43	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.62209	1.925	0.58432	D	0.999993	D	0.67145	0.996	P	0.59115	0.852	D	0.95918	0.8928	10	0.62326	D	0.03	-9.9516	14.9376	0.70970	0.0688:0.0:0.9312:0.0	.	218	Q8IYT4	KATL2_HUMAN	Q	218;146	ENSP00000348478:R218Q;ENSP00000245121:R146Q	ENSP00000245121:R146Q	R	+	2	0	KATNAL2	42843657	1.000000	0.71417	0.904000	0.35570	0.241000	0.25554	9.624000	0.98398	1.570000	0.49709	-0.136000	0.14681	CGA		0.458	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		14	29	0	0	0	1	0	14	29				
ELMOD1	55531	broad.mit.edu	37	11	107526696	107526696	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107526696C>A	ENST00000265840.7	+	11	1001	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELMOD1_ENST00000443271.2_Missense_Mutation_p.L238M|ELMOD1_ENST00000531234.1_Missense_Mutation_p.L240M	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	246	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TATAACTGACCTGGCATATAA	0.378																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(736-738)Ctg>Atg		ELMO/CED-12 domain containing 1							106.0	97.0	100.0					11																	107526696		1853	4099	5952	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107526696C>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.736C>A	11.37:g.107526696C>A	ENSP00000265840:p.Leu246Met					ELMOD1_ENST00000443271.2_Missense_Mutation_p.L238M|ELMOD1_ENST00000531234.1_Missense_Mutation_p.L240M	p.L246M	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	11	1001	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	246			ELMO.		B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.736C>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	C	9.490	1.100479	0.20552	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.28895	1.59;1.59;1.59	6.05	4.2	0.49525	Engulfment/cell motility, ELMO (2);	0.069484	0.56097	D	0.000023	T	0.23249	0.0562	N	0.16098	0.37	0.54753	D	0.999985	B;B	0.31548	0.226;0.328	P;B	0.44447	0.45;0.122	T	0.04320	-1.0960	10	0.02654	T	1	.	12.7816	0.57480	0.0:0.8683:0.0:0.1317	.	246;238	Q8N336;G5E9S5	ELMD1_HUMAN;.	M	240;246;238	ENSP00000433232:L240M;ENSP00000265840:L246M;ENSP00000412257:L238M	ENSP00000265840:L246M	L	+	1	2	ELMOD1	107031906	0.973000	0.33851	0.972000	0.41901	0.993000	0.82548	1.963000	0.40452	0.892000	0.36259	0.650000	0.86243	CTG		0.378	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		6	6	1	0	0.217242	1	0.218821	6	6				
PLK2	10769	broad.mit.edu	37	5	57751887	57751887	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751887T>C	ENST00000274289.3	-	10	1650	c.1350A>G	c.(1348-1350)agA>agG	p.R450R	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	450					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGAGTCCCTCTGACTATCA	0.453																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1348-1350)agA>agG		polo-like kinase 2							105.0	100.0	102.0					5																	57751887		2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751887T>C		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1350A>G	5.37:g.57751887T>C						PLK2_ENST00000502671.1_Intron	p.R450R	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	10	1650	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	450					O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.1350A>G	CCDS3974.1																																																																																				0.453	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		11	50	0	0	0	1	0	11	50				
CEP57	9702	broad.mit.edu	37	11	95564323	95564323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95564323G>T	ENST00000325542.5	+	11	1644	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	CEP57_ENST00000541150.1_Missense_Mutation_p.R460I|CEP57_ENST00000325486.5_Missense_Mutation_p.R443I|CEP57_ENST00000537677.1_Missense_Mutation_p.R442I	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	469	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGAAACTGAGACCTGGAGAA	0.368									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(1405-1407)aGa>aTa		centrosomal protein 57kDa							69.0	70.0	70.0					11																	95564323		2201	4297	6498	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95564323G>T	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1406G>T	11.37:g.95564323G>T	ENSP00000317902:p.Arg469Ile					CEP57_ENST00000537677.1_Missense_Mutation_p.R442I|CEP57_ENST00000325486.5_Missense_Mutation_p.R443I|CEP57_ENST00000541150.1_Missense_Mutation_p.R460I	p.R469I	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			11	1644	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	469			Mediates interaction with microtubules (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.1406G>T	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288163	0.40494	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.65	3.57	0.40892	.	0.067184	0.64402	D	0.000012	T	0.34716	0.0907	L	0.44542	1.39	0.47778	D	0.999515	D;P;P	0.53151	0.958;0.928;0.93	P;P;P	0.54312	0.748;0.543;0.564	T	0.12682	-1.0538	10	0.87932	D	0	-3.1857	6.4786	0.22049	0.3607:0.0:0.6393:0.0	.	460;443;469	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	I	442;469;443;460	ENSP00000441392:R442I;ENSP00000317902:R469I;ENSP00000317487:R443I;ENSP00000443436:R460I	ENSP00000317487:R443I	R	+	2	0	CEP57	95203971	1.000000	0.71417	0.993000	0.49108	0.018000	0.09664	1.935000	0.40173	1.388000	0.46506	-0.142000	0.14014	AGA		0.368	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		6	46	1	0	2.0095e-06	1	2.31757e-06	6	46				
ZNF629	23361	broad.mit.edu	37	16	30794144	30794144	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794144A>G	ENST00000262525.4	-	3	1712	c.1505T>C	c.(1504-1506)aTt>aCt	p.I502T	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GACGTGGGTAATAAGGTTGGA	0.637																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1504-1506)aTt>aCt		zinc finger protein 629							66.0	72.0	70.0					16																	30794144		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794144A>G	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1505T>C	16.37:g.30794144A>G	ENSP00000262525:p.Ile502Thr						p.I502T	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1712	-			502					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1505T>C	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	A	8.129	0.782700	0.16189	.	.	ENSG00000102870	ENST00000262525	T	0.06933	3.24	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000291	T	0.04272	0.0118	N	0.16790	0.44	0.31551	N	0.658716	P	0.48764	0.915	B	0.33454	0.164	T	0.19647	-1.0299	10	0.07990	T	0.79	-35.3337	15.1014	0.72279	1.0:0.0:0.0:0.0	.	502	Q9UEG4	ZN629_HUMAN	T	502	ENSP00000262525:I502T	ENSP00000262525:I502T	I	-	2	0	ZNF629	30701645	0.840000	0.29493	1.000000	0.80357	0.847000	0.48162	1.633000	0.37113	2.208000	0.71279	0.459000	0.35465	ATT		0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		48	43	0	0	0	1	0	48	43				
TMEM56	148534	broad.mit.edu	37	1	95609489	95609489	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95609489T>C	ENST00000370203.4	+	2	323	c.32T>C	c.(31-33)gTt>gCt	p.V11A	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.V11A|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	11						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTCATCAGTGTTACCTGTATC	0.333																																						ENST00000370203.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12						c.(31-33)gTt>gCt		transmembrane protein 56							122.0	122.0	122.0					1																	95609489		2203	4300	6503	SO:0001583	missense	148534					integral to membrane		g.chr1:95609489T>C		CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.32T>C	1.37:g.95609489T>C	ENSP00000359222:p.Val11Ala					RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.V11A|TMEM56_ENST00000463375.1_3'UTR	p.V11A	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN		all cancers(265;0.133)	2	323	+		all_lung(203;0.0232)|Lung NSC(277;0.0739)	11					B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	c.32T>C	CCDS753.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986534	0.35036	.	.	ENSG00000152078	ENST00000370203;ENST00000456991;ENST00000455656	.	.	.	5.45	-4.72	0.03269	.	0.623087	0.17266	N	0.180593	T	0.15003	0.0362	N	0.24115	0.695	0.25129	N	0.990582	B;B	0.21381	0.055;0.055	B;B	0.26864	0.074;0.033	T	0.31806	-0.9930	8	0.10377	T	0.69	0.1586	14.9068	0.70727	0.0:0.1618:0.0:0.8382	.	11;11	C9JJM2;Q96MV1	.;TMM56_HUMAN	A	11	.	ENSP00000359222:V11A	V	+	2	0	TMEM56	95382077	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.710000	0.05024	-0.803000	0.04415	-0.924000	0.02725	GTT		0.333	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1	NM_152487		54	85	0	0	0	1	0	54	85				
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	rs141273536		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488																																						ENST00000394170.2																			1	Substitution - Missense(1)	p.R589H(1)	large_intestine(1)	breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1765-1767)cGc>cAc		zinc finger with KRAB and SCAN domains 5		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	92.0	94.0		1766,1766	5.2	0.9	7	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense	ZKSCAN5	NM_014569.3,NM_145102.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	589/840,589/840	99129118	1,13005	2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129118G>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1766G>A	7.37:g.99129118G>A	ENSP00000377725:p.Arg589His					ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H	p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			7	2017	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		589					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1766G>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016605	0.54468	2.27E-4	0.0	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.36157	1.27;1.27;1.27	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000035	T	0.24928	0.0605	L	0.34521	1.04	0.09310	N	1	P;P	0.50369	0.934;0.934	B;B	0.35278	0.199;0.199	T	0.26292	-1.0107	10	0.21540	T	0.41	.	16.6794	0.85288	0.0:0.0:1.0:0.0	.	589;589	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	H	589	ENSP00000322872:R589H;ENSP00000392104:R589H;ENSP00000377725:R589H	ENSP00000322872:R589H	R	+	2	0	ZKSCAN5	98967054	0.097000	0.21791	0.936000	0.37596	0.878000	0.50629	2.136000	0.42121	2.890000	0.99128	0.585000	0.79938	CGC		0.488	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		15	38	0	0	0	1	0	15	38				
OR2G2	81470	broad.mit.edu	37	1	247752103	247752103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247752103G>A	ENST00000320065.1	+	1	442	c.442G>A	c.(442-444)Gca>Aca	p.A148T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGGCCTTGGCATCTATGGC	0.557																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(442-444)Gca>Aca		olfactory receptor, family 2, subfamily G, member 2							238.0	204.0	216.0					1																	247752103		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752103G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.442G>A	1.37:g.247752103G>A	ENSP00000326349:p.Ala148Thr					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.A148T	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	442	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		148					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.442G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471977	0.26423	.	.	ENSG00000177489	ENST00000320065	T	0.37752	1.18	4.29	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.421581	0.16739	N	0.201521	T	0.44787	0.1310	M	0.71920	2.185	0.09310	N	1	B	0.32573	0.376	P	0.45506	0.483	T	0.47446	-0.9117	10	0.72032	D	0.01	.	7.4107	0.27016	0.3246:0.0:0.6754:0.0	.	148	Q8NGZ5	OR2G2_HUMAN	T	148	ENSP00000326349:A148T	ENSP00000326349:A148T	A	+	1	0	OR2G2	245818726	0.355000	0.24921	0.264000	0.24511	0.005000	0.04900	0.604000	0.24164	0.045000	0.15804	-0.214000	0.12660	GCA		0.557	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			24	145	0	0	0	1	0	24	145				
FLI1	2313	broad.mit.edu	37	11	128675297	128675297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128675297G>A	ENST00000527786.2	+	6	1181	c.692G>A	c.(691-693)gGc>gAc	p.G231D	FLI1_ENST00000281428.8_Missense_Mutation_p.G165D|FLI1_ENST00000344954.6_Missense_Mutation_p.G198D|FLI1_ENST00000534087.2_Missense_Mutation_p.G198D|FLI1_ENST00000525560.1_Missense_Mutation_p.G38D	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	231					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGAGCTTGGGGCAATAACATG	0.408			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(592-594)gGc>gAc		Fli-1 proto-oncogene, ETS transcription factor							81.0	79.0	80.0					11																	128675297		1857	4089	5946	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128675297G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.692G>A	11.37:g.128675297G>A	ENSP00000433488:p.Gly231Asp					FLI1_ENST00000429175.2_Missense_Mutation_p.G231D|FLI1_ENST00000281428.8_Missense_Mutation_p.G165D|FLI1_ENST00000534087.1_Missense_Mutation_p.G198D|FLI1_ENST00000525560.1_Missense_Mutation_p.G38D	p.G198D			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	6	981	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	231			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.593G>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969984	0.34754	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.23147	1.92;2.58;2.58;2.58;2.58	5.77	3.84	0.44239	.	1.203660	0.05330	N	0.528104	T	0.24774	0.0601	L	0.40543	1.245	0.31670	N	0.644536	B;B;B	0.15141	0.001;0.012;0.006	B;B;B	0.16722	0.001;0.01;0.016	T	0.27536	-1.0071	10	0.10111	T	0.7	.	13.7358	0.62817	0.133:0.0:0.867:0.0	.	231;38;165	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	D	38;198;231;198;165	ENSP00000437124:G38D;ENSP00000339627:G198D;ENSP00000399985:G231D;ENSP00000432950:G198D;ENSP00000281428:G165D	ENSP00000281428:G165D	G	+	2	0	FLI1	128180507	1.000000	0.71417	0.975000	0.42487	0.612000	0.37316	2.766000	0.47629	1.546000	0.49388	0.655000	0.94253	GGC		0.408	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	11	0	0	0	1	0	3	11				
DUOXA2	405753	broad.mit.edu	37	15	45406895	45406895	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45406895T>G	ENST00000323030.5	+	1	377	c.92T>G	c.(91-93)tTt>tGt	p.F31C	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	31					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ATTCTAGTGTTTTTGGCTCTA	0.582																																						ENST00000323030.5																			0											c.(91-93)tTt>tGt		dual oxidase maturation factor 2							148.0	128.0	135.0					15																	45406895		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45406895T>G	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.92T>G	15.37:g.45406895T>G	ENSP00000319705:p.Phe31Cys						p.F31C	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	1	377	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	31					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.92T>G	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268578	0.80469	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.61980	0.06	5.04	5.04	0.67666	.	0.052194	0.85682	D	0.000000	T	0.79251	0.4414	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81088	-0.1091	10	0.49607	T	0.09	-30.1878	14.2493	0.66009	0.0:0.0:0.0:1.0	.	31	Q1HG44	DOXA2_HUMAN	C	31	ENSP00000319705:F31C	ENSP00000319705:F31C	F	+	2	0	DUOXA2	43194187	1.000000	0.71417	0.983000	0.44433	0.900000	0.52787	5.911000	0.69939	2.024000	0.59613	0.383000	0.25322	TTT		0.582	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		22	37	0	0	0	1	0	22	37				
FAM73A	374986	broad.mit.edu	37	1	78272689	78272689	+	Silent	SNP	C	C	T	rs200550339	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78272689C>T	ENST00000370791.3	+	5	572	c.540C>T	c.(538-540)tgC>tgT	p.C180C	FAM73A_ENST00000443751.2_Silent_p.C142C	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	180						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTCATAGCTGCGCTTGTGGCA	0.348													C|||	2	0.000399361	0.0	0.0	5008	,	,		17835	0.001		0.0	False		,,,				2504	0.001					ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(538-540)tgC>tgT		family with sequence similarity 73, member A		C		1,4405	2.1+/-5.4	0,1,2202	133.0	137.0	135.0		540	4.5	1.0	1		135	0,8600		0,0,4300	no	coding-synonymous	FAM73A	NM_198549.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		180/633	78272689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374986					integral to membrane		g.chr1:78272689C>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.540C>T	1.37:g.78272689C>T						FAM73A_ENST00000443751.2_Silent_p.C142C	p.C180C	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	5	572	+			180					Q6MZG0	Silent	SNP	ENST00000370791.3	37	c.540C>T	CCDS681.1																																																																																				0.348	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		7	162	0	0	0	1	0	7	162				
TTN	7273	broad.mit.edu	37	2	179433764	179433764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179433764G>A	ENST00000591111.1	-	276	72396	c.72172C>T	c.(72172-72174)Cca>Tca	p.P24058S	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16634S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16759S|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23131S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P25699S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16826S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24058					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGTTGTGGCACTTCTGCA	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(77095-77097)Cca>Tca		titin							167.0	158.0	161.0					2																	179433764		1981	4177	6158	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433764G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72172C>T	2.37:g.179433764G>A	ENSP00000465570:p.Pro24058Ser					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16634S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23131S|TTN_ENST00000359218.5_Missense_Mutation_p.P16759S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16826S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24058S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.P25699S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77319	-			24058			Ig-like 125.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77095C>T		.	.	.	.	.	.	.	.	.	.	G	14.13	2.442865	0.43326	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.83	5.83	0.93111	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87657	0.6232	H	0.97611	4.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	D	0.91299	0.5065	9	0.87932	D	0	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	16634;16759;16826;24058	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23131;16634;16826;16759;16632	ENSP00000343764:P23131S;ENSP00000434586:P16634S;ENSP00000340554:P16826S;ENSP00000352154:P16759S	ENSP00000340554:P16826S	P	-	1	0	TTN	179142010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.747000	0.94245	0.650000	0.86243	CCA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	77	0	0	0	1	0	63	77				
SARDH	1757	broad.mit.edu	37	9	136568090	136568090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136568090C>T	ENST00000371872.4	-	13	1873	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	SARDH_ENST00000422262.2_Missense_Mutation_p.R371H|SARDH_ENST00000439388.1_Missense_Mutation_p.R539H|SARDH_ENST00000371868.1_5'UTR	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	539					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCCTGCGGTAGGCGTA	0.652																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1615-1617)cGc>cAc		sarcosine dehydrogenase							72.0	63.0	66.0					9																	136568090		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136568090C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1616G>A	9.37:g.136568090C>T	ENSP00000360938:p.Arg539His					SARDH_ENST00000422262.2_Missense_Mutation_p.R371H|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.R539H	p.R539H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	13	1873	-			539					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1616G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	8.668	0.902184	0.17760	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.83335	-1.71;-1.71;-1.71	4.68	2.35	0.29111	.	0.763107	0.12988	N	0.422711	T	0.62588	0.2440	N	0.08118	0	0.41680	D	0.989282	B	0.02656	0.0	B	0.06405	0.002	T	0.54669	-0.8259	10	0.49607	T	0.09	-3.1299	2.3961	0.04390	0.0:0.3252:0.2811:0.3937	.	539	Q9UL12	SARDH_HUMAN	H	539;539;371;539	ENSP00000360938:R539H;ENSP00000403084:R539H;ENSP00000415537:R371H	ENSP00000360938:R539H	R	-	2	0	SARDH	135557911	0.002000	0.14202	0.087000	0.20705	0.039000	0.13416	0.558000	0.23469	0.419000	0.25927	0.561000	0.74099	CGC		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	21	0	0	0	1	0	7	21				
ABCC6	368	broad.mit.edu	37	16	16315535	16315535	+	Missense_Mutation	SNP	G	G	A	rs557180313	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16315535G>A	ENST00000205557.7	-	2	219	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	RP11-517A5.7_ENST00000574883.1_RNA|ABCC6_ENST00000574094.1_5'UTR|ABCC6_ENST00000575728.1_Missense_Mutation_p.R64W	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	64			R -> W. {ECO:0000269|PubMed:10493829, ECO:0000269|PubMed:11058917, ECO:0000269|PubMed:9892204}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGGGACATCCGGAGGTAGCCC	0.612																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(190-192)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							34.0	33.0	34.0					16																	16315535		2196	4300	6496	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16315535G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.190C>T	16.37:g.16315535G>A	ENSP00000205557:p.Arg64Trp					ABCC6_ENST00000575728.1_Missense_Mutation_p.R64W|ABCC6_ENST00000574094.1_5'UTR	p.R64W	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	2	219	-			64		R -> W.			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.190C>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	14.64	2.595346	0.46318	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	T;T	0.57595	0.39;0.39	4.72	3.76	0.43208	.	0.148720	0.29892	U	0.010939	T	0.67439	0.2893	M	0.69823	2.125	0.38232	D	0.941056	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.83275	0.927;0.996;0.739	T	0.71217	-0.4658	10	0.66056	D	0.02	.	8.4013	0.32588	0.0:0.1465:0.6278:0.2257	.	64;64;64	F5GWQ0;Q8TCY8;O95255	.;.;MRP6_HUMAN	W	64	ENSP00000205557:R64W;ENSP00000405002:R64W	ENSP00000205557:R64W	R	-	1	2	ABCC6	16223036	0.991000	0.36638	1.000000	0.80357	0.380000	0.30137	1.324000	0.33712	1.149000	0.42402	-0.333000	0.08304	CGG		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			12	28	0	0	0	1	0	12	28				
TNC	3371	broad.mit.edu	37	9	117791675	117791675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117791675C>T	ENST00000350763.4	-	25	6544	c.6133G>A	c.(6133-6135)Gct>Act	p.A2045T	TNC_ENST00000542877.1_Missense_Mutation_p.A1682T|TNC_ENST00000423613.2_Missense_Mutation_p.A1772T|TNC_ENST00000346706.3_Missense_Mutation_p.A1499T|TNC_ENST00000537320.1_Missense_Mutation_p.A1408T|TNC_ENST00000341037.4_Missense_Mutation_p.A1863T|TNC_ENST00000345230.3_Missense_Mutation_p.A1408T|TNC_ENST00000535648.1_Missense_Mutation_p.A1590T|TNC_ENST00000340094.3_Missense_Mutation_p.A1681T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2045	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAAATCCAGCAGCATATGCC	0.443																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6133-6135)Gct>Act		tenascin C							171.0	154.0	160.0					9																	117791675		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117791675C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6133G>A	9.37:g.117791675C>T	ENSP00000265131:p.Ala2045Thr					TNC_ENST00000345230.3_Missense_Mutation_p.A1408T|TNC_ENST00000542877.1_Missense_Mutation_p.A1682T|TNC_ENST00000423613.2_Missense_Mutation_p.A1772T|TNC_ENST00000346706.3_Missense_Mutation_p.A1499T|TNC_ENST00000537320.1_Missense_Mutation_p.A1408T|TNC_ENST00000340094.3_Missense_Mutation_p.A1681T|TNC_ENST00000341037.4_Missense_Mutation_p.A1863T|TNC_ENST00000535648.1_Missense_Mutation_p.A1590T	p.A2045T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			25	6544	-			2045			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6133G>A	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.148860|4.148860	0.78001|0.78001	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.77229|.	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08|.	5.57|5.57	3.4|3.4	0.38934|0.38934	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.221928|.	0.46758|.	N|.	0.000280|.	T|T	0.32941|0.32941	0.0846|0.0846	N|N	0.20845|0.20845	0.615|0.615	0.24911|0.24911	N|N	0.992045|0.992045	P;B|.	0.41597|.	0.756;0.023|.	B;B|.	0.42882|.	0.401;0.07|.	T|T	0.20974|0.20974	-1.0259|-1.0259	10|5	0.30854|.	T|.	0.27|.	.|.	13.1837|13.1837	0.59670|0.59670	0.0:0.8483:0.0:0.1517|0.0:0.8483:0.0:0.1517	.|.	1772;2045|.	E9PC84;P24821|.	.;TENA_HUMAN|.	T|Y	1681;1590;1499;1408;2045;1863;1772;1408;1682|607	ENSP00000344400:A1681T;ENSP00000438152:A1590T;ENSP00000344555:A1499T;ENSP00000345861:A1408T;ENSP00000265131:A2045T;ENSP00000339553:A1863T;ENSP00000411406:A1772T;ENSP00000443478:A1408T;ENSP00000442242:A1682T|.	ENSP00000344400:A1681T|.	A|C	-|-	1|2	0|0	TNC|TNC	116831496|116831496	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.993000|2.993000	0.49425|0.49425	1.371000|1.371000	0.46172|0.46172	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.443	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		39	52	0	0	0	1	0	39	52				
AJUBA	84962	broad.mit.edu	37	14	23450656	23450656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23450656C>T	ENST00000262713.2	-	1	1195	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Missense_Mutation_p.A274T|RP11-298I3.4_ENST00000556503.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	274	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TGGTACCGGGCGCCCACGGCG	0.716																																						ENST00000262713.2																			0											c.(820-822)Gcc>Acc		ajuba LIM protein							10.0	12.0	12.0					14																	23450656		2179	4265	6444	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450656C>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.820G>A	14.37:g.23450656C>T	ENSP00000262713:p.Ala274Thr					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.A274T	p.A274T	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1195	-			274			PreLIM.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.820G>A	CCDS9581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.812294|1.812294	0.32053|0.32053	.|.	.|.	ENSG00000129474|ENSG00000129474	ENST00000262713;ENST00000361265|ENST00000553736	T;T|.	0.54279|.	0.58;0.58|.	4.72|4.72	3.82|3.82	0.43975|0.43975	.|.	0.386204|.	0.24233|.	N|.	0.040339|.	T|T	0.30198|0.30198	0.0757|0.0757	N|N	0.08118|0.08118	0|0	0.33322|0.33322	D|D	0.56742|0.56742	B|.	0.10296|.	0.003|.	B|.	0.04013|.	0.001|.	T|T	0.40590|0.40590	-0.9555|-0.9555	10|5	0.06365|.	T|.	0.9|.	.|.	11.9974|11.9974	0.53212|0.53212	0.1745:0.8255:0.0:0.0|0.1745:0.8255:0.0:0.0	.|.	274|.	Q96IF1|.	JUB_HUMAN|.	T|H	274|47	ENSP00000262713:A274T;ENSP00000354491:A274T|.	ENSP00000262713:A274T|.	A|R	-|-	1|2	0|0	JUB|JUB	22520496|22520496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.342000|1.342000	0.33919|0.33919	1.181000|1.181000	0.42912|0.42912	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.716	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			3	9	0	0	0	1	0	3	9				
S100A4	6275	broad.mit.edu	37	1	153516392	153516392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153516392G>A	ENST00000368716.4	-	3	296	c.149C>T	c.(148-150)aCa>aTa	p.T50I	S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000368715.1_Missense_Mutation_p.T50I|S100A4_ENST00000354332.4_Missense_Mutation_p.T50I|S100A4_ENST00000368714.1_Missense_Mutation_p.T50I|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000481009.1_5'UTR	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	50	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	AGCTTCATCTGTCCTTTTCTG	0.532																																						ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(148-150)aCa>aTa		S100 calcium binding protein A4							180.0	164.0	169.0					1																	153516392		2203	4300	6503	SO:0001583	missense	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516392G>A	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.149C>T	1.37:g.153516392G>A	ENSP00000357705:p.Thr50Ile					S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.T50I|S100A4_ENST00000368715.1_Missense_Mutation_p.T50I|S100A4_ENST00000354332.4_Missense_Mutation_p.T50I	p.T50I	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	296	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		50			EF-hand 2.		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	c.149C>T	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099879	0.37048	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.75	2.68	0.31781	EF-hand-like domain (1);	0.396173	0.24393	N	0.038914	T	0.03220	0.0094	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36187	-0.9758	10	0.59425	D	0.04	.	7.0466	0.25048	0.0:0.192:0.6097:0.1983	.	50	P26447	S10A4_HUMAN	I	50;50;50;50;39	ENSP00000357704:T50I;ENSP00000346294:T50I;ENSP00000357705:T50I;ENSP00000357703:T50I	ENSP00000346294:T50I	T	-	2	0	S100A4	151783016	0.001000	0.12720	0.873000	0.34254	0.991000	0.79684	0.046000	0.14035	0.965000	0.38133	0.561000	0.74099	ACA		0.532	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		8	201	0	0	0	1	0	8	201				
SIGLEC1	6614	broad.mit.edu	37	20	3682141	3682141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3682141C>A	ENST00000344754.4	-	6	1375	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S459I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	459	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGTGATCACTGTCCCCGGA	0.602																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1375-1377)aGt>aTt		sialic acid binding Ig-like lectin 1, sialoadhesin							102.0	77.0	85.0					20																	3682141		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682141C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1376G>T	20.37:g.3682141C>A	ENSP00000341141:p.Ser459Ile					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S459I	p.S459I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			6	1375	-			459			Ig-like C2-type 4.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1376G>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	7.135	0.580607	0.13686	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.26067	1.79;1.76	5.39	-2.37	0.06643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.128650	0.06735	N	0.777396	T	0.20577	0.0495	L	0.27053	0.805	0.09310	N	1	B;B	0.30634	0.288;0.244	B;B	0.40038	0.317;0.212	T	0.47169	-0.9138	10	0.37606	T	0.19	.	6.36	0.21422	0.0:0.3995:0.1283:0.4722	.	459;459	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	I	459	ENSP00000341141:S459I;ENSP00000202578:S459I	ENSP00000202578:S459I	S	-	2	0	SIGLEC1	3630141	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.085000	0.11250	-0.050000	0.13356	-0.140000	0.14226	AGT		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		25	32	1	0	4.59853e-10	1	5.63411e-10	25	32				
DPM1	8813	broad.mit.edu	37	20	49562425	49562425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49562425C>A	ENST00000371588.5	-	4	357	c.331G>T	c.(331-333)Gga>Tga	p.G111*	DPM1_ENST00000371582.4_Nonsense_Mutation_p.G111*|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Nonsense_Mutation_p.G111*	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	111					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATGTAGTTTCCTGTGGCATGT	0.323																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(331-333)Gga>Tga		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							120.0	111.0	114.0					20																	49562425		2203	4296	6499	SO:0001587	stop_gained	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49562425C>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.331G>T	20.37:g.49562425C>A	ENSP00000360644:p.Gly111*					DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Nonsense_Mutation_p.G111*|DPM1_ENST00000371588.5_Nonsense_Mutation_p.G111*	p.G111*			O60762	DPM1_HUMAN			4	362	-			111					O15157|Q6IB78|Q96HK0	Nonsense_Mutation	SNP	ENST00000371588.5	37	c.331G>T	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.998043|6.998043	0.97990|0.97990	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80014	.|0.4546	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77389	.|-0.2606	.|3	.|.	.|.	.|.	-14.4874|-14.4874	19.9157|19.9157	0.97061|0.97061	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	111|110	.|.	.|.	G|R	-|-	1|2	0|0	DPM1|DPM1	48995832|48995832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.237000|7.237000	0.78164|0.78164	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.323	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		23	37	1	0	2.41591e-17	1	3.13163e-17	23	37				
PAFAH1B1	5048	broad.mit.edu	37	17	2579818	2579818	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579818C>A	ENST00000397195.5	+	9	1371	c.920C>A	c.(919-921)cCt>cAt	p.P307H	PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGTGGTAAACCTGGGCCATTC	0.368																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(919-921)cCt>cAt		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							135.0	121.0	126.0					17																	2579818		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2579818C>A	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.920C>A	17.37:g.2579818C>A	ENSP00000380378:p.Pro307His					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Intron	p.P307H	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			9	1371	+			307			Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.920C>A	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361814	0.61403	.	.	ENSG00000007168	ENST00000397195;ENST00000397193	T	0.81078	-1.45	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048014	0.85682	D	0.000000	T	0.71508	0.3348	N	0.04508	-0.205	0.80722	D	1	B	0.23650	0.089	B	0.37780	0.258	T	0.71073	-0.4698	10	0.56958	D	0.05	.	18.3615	0.90376	0.0:1.0:0.0:0.0	.	307	P43034	LIS1_HUMAN	H	307;136	ENSP00000380378:P307H	ENSP00000380377:P136H	P	+	2	0	PAFAH1B1	2526568	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.578000	0.87016	0.467000	0.42956	CCT		0.368	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		32	52	1	0	1.22384e-17	1	1.58917e-17	32	52				
MEGF9	1955	broad.mit.edu	37	9	123370192	123370192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123370192C>T	ENST00000373930.3	-	5	1295	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	MEGF9_ENST00000426959.1_Missense_Mutation_p.S432N	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	395	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTACAGATGCTGTCAAAATT	0.428																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1183-1185)aGc>aAc		multiple EGF-like-domains 9							183.0	169.0	173.0					9																	123370192		1895	4123	6018	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123370192C>T	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1184G>A	9.37:g.123370192C>T	ENSP00000363040:p.Ser395Asn					MEGF9_ENST00000426959.1_Missense_Mutation_p.S432N	p.S395N	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			5	1295	-			395			Laminin EGF-like 4.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1184G>A	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968823	0.74131	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.62788	0.0;0.0	5.23	5.23	0.72850	.	0.140815	0.64402	D	0.000002	T	0.66703	0.2816	L	0.34521	1.04	0.39020	D	0.959738	D	0.63880	0.993	P	0.57620	0.824	T	0.68808	-0.5311	10	0.46703	T	0.11	-16.8165	17.3499	0.87321	0.0:1.0:0.0:0.0	.	432	C9J1K8	.	N	395;432	ENSP00000363040:S395N;ENSP00000392666:S432N	ENSP00000363040:S395N	S	-	2	0	MEGF9	122410013	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.077000	0.64419	2.624000	0.88883	0.557000	0.71058	AGC		0.428	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		50	97	0	0	0	1	0	50	97				
TSC2	7249	broad.mit.edu	37	16	2105475	2105475	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2105475A>G	ENST00000219476.3	+	6	1184	c.554A>G	c.(553-555)aAa>aGa	p.K185R	TSC2_ENST00000382538.6_Missense_Mutation_p.K136R|TSC2_ENST00000439673.2_Missense_Mutation_p.K148R|TSC2_ENST00000568454.1_Missense_Mutation_p.K196R|TSC2_ENST00000353929.4_Missense_Mutation_p.K185R|TSC2_ENST00000350773.4_Missense_Mutation_p.K185R|TSC2_ENST00000401874.2_Missense_Mutation_p.K185R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	185	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AACTTGGTCAAATTCAATAGC	0.493			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(553-555)aAa>aGa		tuberous sclerosis 2							227.0	195.0	206.0					16																	2105475		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2105475A>G	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.554A>G	16.37:g.2105475A>G	ENSP00000219476:p.Lys185Arg					TSC2_ENST00000401874.2_Missense_Mutation_p.K185R|TSC2_ENST00000568454.1_Missense_Mutation_p.K196R|TSC2_ENST00000350773.4_Missense_Mutation_p.K185R|TSC2_ENST00000382538.6_Missense_Mutation_p.K136R|TSC2_ENST00000439673.2_Missense_Mutation_p.K148R|TSC2_ENST00000353929.4_Missense_Mutation_p.K185R	p.K185R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			6	1184	+		Hepatocellular(780;0.0202)	185			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.554A>G	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	19.46	3.832184	0.71258	.	.	ENSG00000103197	ENST00000219476;ENST00000432909;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	4.94	4.94	0.65067	Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.62016	1.91	0.80722	D	1	D;D;P;D;D	0.71674	0.973;0.998;0.712;0.997;0.992	D;D;P;D;D	0.87578	0.955;0.998;0.493;0.972;0.987	D	0.89361	0.3668	10	0.48119	T	0.1	-17.7824	14.6036	0.68460	1.0:0.0:0.0:0.0	.	136;148;185;185;185	B4DIL8;P49815-6;P49815-4;P49815-5;P49815	.;.;.;.;TSC2_HUMAN	R	185;136;185;185;148;136;185	ENSP00000219476:K185R;ENSP00000384468:K185R;ENSP00000248099:K185R;ENSP00000399232:K148R;ENSP00000371978:K136R;ENSP00000344383:K185R	ENSP00000219476:K185R	K	+	2	0	TSC2	2045476	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	8.721000	0.91446	1.863000	0.54032	0.379000	0.24179	AAA		0.493	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		44	97	0	0	0	1	0	44	97				
C19orf26	255057	broad.mit.edu	37	19	1231117	1231117	+	Silent	SNP	C	C	T	rs534213272		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231117C>T	ENST00000382477.2	-	9	1471	c.1197G>A	c.(1195-1197)ccG>ccA	p.P399P	C19orf26_ENST00000590083.1_Silent_p.P379P|C19orf26_ENST00000215376.6_Silent_p.P373P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	399						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCAGGGGGCGGGCTGGCCA	0.701										HNSCC(14;0.022)			c|||	1	0.000199681	0.0	0.0	5008	,	,		9841	0.0		0.0	False		,,,				2504	0.001					ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(1135-1137)ccG>ccA		chromosome 19 open reading frame 26							13.0	17.0	15.0					19																	1231117		1999	3961	5960	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1231117C>T	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1197G>A	19.37:g.1231117C>T		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.P373P|C19orf26_ENST00000382477.2_Silent_p.P399P	p.P379P			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1429	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	399					O43385	Silent	SNP	ENST00000382477.2	37	c.1137G>A																																																																																					0.701	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		9	15	0	0	0	1	0	9	15				
KIAA0226L	80183	broad.mit.edu	37	13	46946551	46946551	+	Silent	SNP	G	G	A	rs142745251	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46946551G>A	ENST00000429979.1	-	3	664	c.60C>T	c.(58-60)agC>agT	p.S20S	KIAA0226L_ENST00000389908.3_Silent_p.S20S|KIAA0226L_ENST00000378781.3_Silent_p.S20S|KIAA0226L_ENST00000378787.3_Silent_p.S20S|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378797.2_Silent_p.S20S|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378784.4_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	20										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CAGAGTGATCGCTGATCCCTT	0.507													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19046	0.0		0.0	False		,,,				2504	0.0					ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(58-60)agC>agT		KIAA0226-like		G		25,4381	31.7+/-61.6	0,25,2178	42.0	36.0	38.0		60	0.9	0.0	13	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA0226L	NM_025113.2		0,26,6477	AA,AG,GG		0.0116,0.5674,0.1999		20/663	46946551	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	80183							g.chr13:46946551G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.60C>T	13.37:g.46946551G>A						KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378781.3_Silent_p.S20S|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378797.2_Silent_p.S20S|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378787.3_Silent_p.S20S|KIAA0226L_ENST00000389908.3_Silent_p.S20S	p.S20S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			3	664	-			20					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	c.60C>T	CCDS31970.2																																																																																				0.507	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		8	5	0	0	0	1	0	8	5				
SPRY1	10252	broad.mit.edu	37	4	124323307	124323307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323307C>T	ENST00000394339.2	+	2	901	c.561C>T	c.(559-561)tgC>tgT	p.C187C	SPRY1_ENST00000339241.1_Silent_p.C187C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	187	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GTGGGAAGTGCAAGTGTGGAG	0.522																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(559-561)tgC>tgT		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							167.0	141.0	150.0					4																	124323307		2203	4300	6503	SO:0001819	synonymous_variant	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323307C>T	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.561C>T	4.37:g.124323307C>T						SPRY1_ENST00000339241.1_Silent_p.C187C	p.C187C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	901	+			187			Cys-rich.|SPR.		D3DNX6|Q6PNE0	Silent	SNP	ENST00000394339.2	37	c.561C>T	CCDS3731.1																																																																																				0.522	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			26	43	0	0	0	1	0	26	43				
TRAV3	28690	broad.mit.edu	37	14	22192368	22192368	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22192368G>A	ENST00000390425.2	+	0	319									T cell receptor alpha variable 3 (gene/pseudogene)																		TCAGTCTCTGGAAACCCTTAT	0.493																																						ENST00000390425.2																			0																				110.0	107.0	108.0					14																	22192368		1889	4120	6009			0							g.chr14:22192368G>A	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192368G>A														0	319	+									RNA	SNP	ENST00000390425.2	37																																																																																						0.493	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		24	52	0	0	0	1	0	24	52				
ADAM28	10863	broad.mit.edu	37	8	24188819	24188819	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24188819C>A	ENST00000265769.4	+	12	1370	c.1260C>A	c.(1258-1260)gaC>gaA	p.D420E	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.D420E|ADAM28_ENST00000397649.3_Missense_Mutation_p.D167E|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.D187E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	420	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGGAGAGGACTGTGATTGTG	0.393																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1258-1260)gaC>gaA		ADAM metallopeptidase domain 28							84.0	84.0	84.0					8																	24188819		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24188819C>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1260C>A	8.37:g.24188819C>A	ENSP00000265769:p.Asp420Glu					ADAM28_ENST00000437154.2_Missense_Mutation_p.D420E|ADAM28_ENST00000540823.1_Missense_Mutation_p.D187E|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.D167E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.D420E	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	12	1370	+		Prostate(55;0.0959)	420			Disintegrin.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1260C>A	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.674|0.674	-0.800933|-0.800933	0.02841|0.02841	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154|ENST00000521629	T;T;T;T|.	0.08720|.	3.06;3.06;3.06;3.06|.	5.57|5.57	1.49|1.49	0.22878|0.22878	Blood coagulation inhibitor, Disintegrin (4);|.	.|.	.|.	.|.	.|.	T|T	0.23611|0.23611	0.0571|0.0571	N|N	0.03999|0.03999	-0.3|-0.3	0.38856|0.38856	D|D	0.956389|0.956389	B;P;P;B|.	0.39443|.	0.018;0.674;0.674;0.077|.	B;B;B;B|.	0.40375|.	0.074;0.327;0.327;0.048|.	T|T	0.06006|0.06006	-1.0851|-1.0851	9|5	0.02654|.	T|.	1|.	.|.	8.11|8.11	0.30909|0.30909	0.4907:0.4327:0.0:0.0766|0.4907:0.4327:0.0:0.0766	.|.	187;420;420;420|.	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2|.	.;.;ADA28_HUMAN;.|.	E|M	420;167;187;420|53	ENSP00000265769:D420E;ENSP00000380770:D167E;ENSP00000443743:D187E;ENSP00000393699:D420E|.	ENSP00000265769:D420E|.	D|L	+|+	3|1	2|2	ADAM28|ADAM28	24244764|24244764	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.409000|0.409000	0.31022|0.31022	0.360000|0.360000	0.20250|0.20250	0.382000|0.382000	0.24878|0.24878	-0.181000|-0.181000	0.13052|0.13052	GAC|CTG		0.393	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		15	30	1	0	0.000422831	1	0.000460248	15	30				
ADAMTSL1	92949	broad.mit.edu	37	9	18639269	18639269	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18639269C>A	ENST00000380548.4	+	7	1033	c.694C>A	c.(694-696)Ctc>Atc	p.L232I	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L232I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	232						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AACCAAAACCCTCCAGGGGAC	0.428																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(694-696)Ctc>Atc		ADAMTS-like 1							70.0	65.0	66.0					9																	18639269		2203	4299	6502	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18639269C>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.694C>A	9.37:g.18639269C>A	ENSP00000369921:p.Leu232Ile					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L232I	p.L232I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	7	1033	+			232					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.694C>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245023	0.59103	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.63744	-0.06;0.69;0.69;0.69	5.77	5.77	0.91146	.	.	.	.	.	T	0.61085	0.2319	L	0.48260	1.515	0.80722	D	1	P;B	0.52463	0.953;0.415	P;B	0.47603	0.551;0.245	T	0.59300	-0.7480	9	0.38643	T	0.18	.	13.5467	0.61709	0.0:0.9288:0.0:0.0712	.	232;232	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	I	232	ENSP00000369921:L232I;ENSP00000327887:L232I;ENSP00000369940:L232I;ENSP00000276935:L232I	ENSP00000276935:L232I	L	+	1	0	ADAMTSL1	18629269	0.999000	0.42202	0.999000	0.59377	0.858000	0.48976	4.118000	0.57884	2.890000	0.99128	0.650000	0.86243	CTC		0.428	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			5	39	1	0	3.59834e-05	1	4.01776e-05	5	39				
RNF146	81847	broad.mit.edu	37	6	127607801	127607801	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127607801C>T	ENST00000368314.1	+	3	467	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.L15F|RNF146_ENST00000477776.1_3'UTR|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.L14F|RNF146_ENST00000309649.3_Missense_Mutation_p.L14F|RNF146_ENST00000480444.1_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	15					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AATAAACATGCTTCCTACAAA	0.353																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(43-45)Ctt>Ttt		ring finger protein 146							127.0	104.0	112.0					6																	127607801		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127607801C>T	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.43C>T	6.37:g.127607801C>T	ENSP00000357297:p.Leu15Phe					RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_Missense_Mutation_p.L14F|RNF146_ENST00000309649.3_Missense_Mutation_p.L14F	p.L15F	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	467	+			15					E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.43C>T	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173721	0.57692	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.27890	1.64;1.64;1.64	5.57	4.71	0.59529	.	0.062051	0.64402	N	0.000006	T	0.32466	0.0830	L	0.32530	0.975	0.51767	D	0.99993	D	0.89917	1.0	D	0.69307	0.963	T	0.21621	-1.0240	10	0.66056	D	0.02	-17.4498	14.5437	0.68013	0.0:0.9296:0.0:0.0704	.	15	Q9NTX7	RN146_HUMAN	F	15;14;14	ENSP00000357297:L15F;ENSP00000349253:L14F;ENSP00000309365:L14F	ENSP00000309365:L14F	L	+	1	0	RNF146	127649494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	1.361000	0.45981	0.650000	0.86243	CTT		0.353	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		24	38	0	0	0	1	0	24	38				
THG1L	54974	broad.mit.edu	37	5	157161716	157161716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161716G>T	ENST00000231198.7	+	3	745	c.501G>T	c.(499-501)caG>caT	p.Q167H	AC026407.1_ENST00000599823.1_Silent_p.V4V	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	167					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCAACCAGACTTTAAAGG	0.478																																						ENST00000231198.7																			0				NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13						c.(499-501)caG>caT		tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)							114.0	102.0	106.0					5																	157161716		2203	4300	6503	SO:0001583	missense	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157161716G>T	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.501G>T	5.37:g.157161716G>T	ENSP00000231198:p.Gln167His					AC026407.1_ENST00000599823.1_Silent_p.V4V	p.Q167H	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	745	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	167					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	ENST00000231198.7	37	c.501G>T	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665004	0.47572	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	T	0.47177	0.85	5.95	5.09	0.68999	.	0.099959	0.64402	D	0.000001	T	0.46698	0.1406	L	0.60904	1.88	0.52501	D	0.999953	B;B	0.18013	0.025;0.014	B;B	0.25506	0.061;0.022	T	0.42172	-0.9467	10	0.48119	T	0.1	-29.0437	12.9479	0.58384	0.1342:0.0:0.8658:0.0	.	35;167	B4E366;Q9NWX6	.;THG1_HUMAN	H	167;42	ENSP00000231198:Q167H	ENSP00000231198:Q167H	Q	+	3	2	THG1L	157094294	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.397000	0.44477	1.522000	0.49001	0.650000	0.86243	CAG		0.478	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		5	54	1	0	0.000602214	1	0.000649039	5	54				
CPSF6	11052	broad.mit.edu	37	12	69650591	69650591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69650591C>T	ENST00000435070.2	+	4	599	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CPSF6_ENST00000456847.3_Silent_p.F163F|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.F163F	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	163					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATAAACAGTTCCTGAGTCAAT	0.358																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(487-489)ttC>ttT		cleavage and polyadenylation specific factor 6, 68kDa							117.0	119.0	119.0					12																	69650591		2203	4300	6503	SO:0001819	synonymous_variant	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69650591C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.489C>T	12.37:g.69650591C>T						CPSF6_ENST00000456847.3_Silent_p.F163F|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.F163F	p.F163F	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		4	599	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		163					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	ENST00000435070.2	37	c.489C>T	CCDS8988.1																																																																																				0.358	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		26	63	0	0	0	1	0	26	63				
TMEM63C	57156	broad.mit.edu	37	14	77719720	77719720	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77719720G>A	ENST00000298351.4	+	23	2364		c.e23+1			NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACCTCCCTCGTGAGTCCTGA	0.612																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.e23+1		transmembrane protein 63C							39.0	42.0	41.0					14																	77719720		2062	4197	6259	SO:0001630	splice_region_variant	57156					integral to membrane		g.chr14:77719720G>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2220+1G>A	14.37:g.77719720G>A								NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	23	2364	+								B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Splice_Site	SNP	ENST00000298351.4	37		CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693292	0.68386	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.753	0.78001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63C	76789473	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.342000	0.65970	2.573000	0.86826	0.655000	0.94253	.		0.612	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		Intron	4	11	0	0	0	1	0	4	11				
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201846100G>A	ENST00000418596.3	-	12	1673	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	496						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1486-1488)Cgg>Tgg		family with sequence similarity 126, member B							121.0	101.0	108.0					2																	201846100		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846100G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1486C>T	2.37:g.201846100G>A	ENSP00000393667:p.Arg496Trp					AC005037.3_ENST00000413848.1_RNA	p.R496W	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1673	-			496					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1486C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418725	0.62622	.	.	ENSG00000155744	ENST00000418596	T	0.78816	-1.21	5.68	5.68	0.88126	.	0.138414	0.53938	D	0.000054	T	0.81531	0.4842	L	0.36672	1.1	0.53688	D	0.999974	D;D	0.76494	0.999;0.997	P;P	0.62885	0.908;0.849	T	0.82890	-0.0233	10	0.72032	D	0.01	-11.4284	14.619	0.68572	0.0:0.0:0.8543:0.1456	.	302;496	B3KUG1;Q8IXS8	.;F126B_HUMAN	W	496	ENSP00000393667:R496W	ENSP00000393667:R496W	R	-	1	2	FAM126B	201554345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.164000	0.71885	2.674000	0.91012	0.655000	0.94253	CGG		0.512	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		18	21	0	0	0	1	0	18	21				
MAGEA11	4110	broad.mit.edu	37	X	148797686	148797686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148797686C>A	ENST00000355220.5	+	5	642	c.540C>A	c.(538-540)ttC>ttA	p.F180L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.F151L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	180						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAGAGTCCTTCTCTCCCACTG	0.562																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(538-540)ttC>ttA		melanoma antigen family A, 11							62.0	54.0	57.0					X																	148797686		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797686C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.540C>A	X.37:g.148797686C>A	ENSP00000347358:p.Phe180Leu					MAGEA11_ENST00000333104.4_Missense_Mutation_p.F151L	p.F180L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	642	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		180					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.540C>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.684	0.127241	0.08981	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03951	3.75;3.75;3.75	0.871	0.871	0.19107	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02727	0.0082	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.44452	-0.9327	8	0.35671	T	0.21	.	.	.	.	.	151;180	G5E962;P43364	.;MAGAB_HUMAN	L	151;151;180	ENSP00000391496:F151L;ENSP00000328177:F151L;ENSP00000347358:F180L	ENSP00000328177:F151L	F	+	3	2	MAGEA11	148576719	0.000000	0.05858	0.030000	0.17652	0.012000	0.07955	-0.044000	0.12023	0.704000	0.31869	0.429000	0.28392	TTC		0.562	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		18	43	1	0	3.52763e-06	1	4.04633e-06	18	43				
PNMA3	29944	broad.mit.edu	37	X	152226090	152226090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226090C>A	ENST00000370264.4	+	1	704	c.678C>A	c.(676-678)tcC>tcA	p.S226S	PNMA3_ENST00000370265.4_Silent_p.S226S|PNMA3_ENST00000447306.1_Silent_p.S226S			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	226					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaatgcttccataactgtgg	0.592																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(676-678)tcC>tcA		paraneoplastic Ma antigen 3							97.0	99.0	98.0					X																	152226090		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226090C>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.678C>A	X.37:g.152226090C>A						PNMA3_ENST00000370265.4_Silent_p.S226S|PNMA3_ENST00000370264.4_Silent_p.S226S	p.S226S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1014	+	Acute lymphoblastic leukemia(192;6.56e-05)		226					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.678C>A	CCDS35435.2																																																																																				0.592	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		10	174	1	0	5.16669e-11	1	6.41398e-11	10	174				
A1CF	29974	broad.mit.edu	37	10	52566559	52566559	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52566559G>T	ENST00000373993.1	-	11	1759	c.1715C>A	c.(1714-1716)gCa>gAa	p.A572E	A1CF_ENST00000373997.3_Missense_Mutation_p.A564E|A1CF_ENST00000282641.2_Missense_Mutation_p.A572E|A1CF_ENST00000374001.2_Missense_Mutation_p.A564E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.A517E|A1CF_ENST00000373995.3_Missense_Mutation_p.A572E|A1CF_ENST00000395489.2_Missense_Mutation_p.A565E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	572					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTTGTATATGCTGCTAAGTC	0.478																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1693-1695)gCa>gAa		APOBEC1 complementation factor							137.0	122.0	127.0					10																	52566559		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52566559G>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1715C>A	10.37:g.52566559G>T	ENSP00000363105:p.Ala572Glu					A1CF_ENST00000373993.1_Missense_Mutation_p.A572E|A1CF_ENST00000395495.1_Missense_Mutation_p.A517E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.A572E|A1CF_ENST00000373997.3_Missense_Mutation_p.A564E|A1CF_ENST00000374001.1_Missense_Mutation_p.A564E|A1CF_ENST00000373995.3_Missense_Mutation_p.A572E	p.A565E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			15	2090	-			572					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1694C>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623561	0.66901	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.16597	2.52;2.53;2.52;2.5;2.53;2.33;2.52	5.64	5.64	0.86602	.	0.118665	0.56097	D	0.000029	T	0.26882	0.0658	L	0.29908	0.895	0.80722	D	1	P;P;D;P	0.61697	0.928;0.535;0.99;0.675	P;B;P;B	0.57152	0.526;0.247;0.814;0.372	T	0.00688	-1.1609	10	0.66056	D	0.02	-3.5575	17.1986	0.86900	0.0:0.0:1.0:0.0	.	565;572;564;572	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	E	564;572;564;572;572;517;547;565	ENSP00000363113:A564E;ENSP00000363105:A572E;ENSP00000363109:A564E;ENSP00000363107:A572E;ENSP00000282641:A572E;ENSP00000378873:A517E;ENSP00000378868:A565E	ENSP00000282641:A572E	A	-	2	0	A1CF	52236565	1.000000	0.71417	0.909000	0.35828	0.638000	0.38207	9.198000	0.94994	2.655000	0.90218	0.650000	0.86243	GCA		0.478	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		27	43	1	0	6.32553e-13	1	7.99037e-13	27	43				
NISCH	11188	broad.mit.edu	37	3	52521900	52521900	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52521900G>A	ENST00000479054.1	+	17	2464	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	NISCH_ENST00000345716.4_Missense_Mutation_p.A798T			Q9Y2I1	NISCH_HUMAN	nischarin	798	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CTCGGACGCCGCCAACCTGCA	0.607																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2392-2394)Gcc>Acc		nischarin							68.0	56.0	60.0					3																	52521900		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521900G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2392G>A	3.37:g.52521900G>A	ENSP00000418232:p.Ala798Thr					NISCH_ENST00000479054.1_Missense_Mutation_p.A798T	p.A798T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2526	+			798			Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2392G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489807	0.26686	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.07216	3.21;3.21	5.04	0.969	0.19686	.	0.429052	0.24611	N	0.037045	T	0.03390	0.0098	N	0.14661	0.345	0.25461	N	0.987919	B	0.26547	0.152	B	0.13407	0.009	T	0.36939	-0.9727	10	0.30854	T	0.27	-17.1034	2.4077	0.04417	0.1858:0.3272:0.3707:0.1163	.	798	Q9Y2I1	NISCH_HUMAN	T	798;798;142	ENSP00000418232:A798T;ENSP00000339958:A798T	ENSP00000339958:A798T	A	+	1	0	NISCH	52496940	0.948000	0.32251	0.995000	0.50966	0.350000	0.29205	1.268000	0.33062	0.640000	0.30582	0.561000	0.74099	GCC		0.607	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		14	10	0	0	0	1	0	14	10				
SNTB2	6645	broad.mit.edu	37	16	69279555	69279555	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69279555T>G	ENST00000336278.4	+	2	669	c.631T>G	c.(631-633)Tca>Gca	p.S211A	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	211	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ATCATTAGTATCAGATCTGCC	0.438																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	ENST00000336278.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13						c.(631-633)Tca>Gca		syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)							192.0	187.0	188.0					16																	69279555		2198	4300	6498	SO:0001583	missense	6645					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	g.chr16:69279555T>G	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.631T>G	16.37:g.69279555T>G	ENSP00000338191:p.Ser211Ala					SNTB2_ENST00000528525.1_3'UTR	p.S211A	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.208)	2	669	+		Ovarian(137;0.101)	211			PH 1.		Q9BY09	Missense_Mutation	SNP	ENST00000336278.4	37	c.631T>G	CCDS10873.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	15.12|15.12|15.12	2.739580|2.739580|2.739580	0.49045|0.49045|0.49045	.|.|.	.|.|.	ENSG00000168807|ENSG00000168807|ENSG00000168807	ENST00000360496;ENST00000534235|ENST00000336278|ENST00000525632;ENST00000528525	.|T|.	.|0.55760|.	.|0.5|.	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|Pleckstrin homology domain (1);|.	.|0.066772|.	.|0.64402|.	.|D|.	.|0.000008|.	T|T|.	0.39332|0.39332|.	0.1074|0.1074|.	N|N|N	0.12853|0.12853|0.12853	0.265|0.265|0.265	0.39428|0.39428|0.39428	D|D|D	0.967024|0.967024|0.967024	.|B|.	.|0.11235|.	.|0.004|.	.|B|.	.|0.10450|.	.|0.005|.	T|T|.	0.38607|0.38607|.	-0.9653|-0.9653|.	5|10|.	.|0.24483|.	.|T|.	.|0.36|.	1.2356|1.2356|1.2356	11.6811|11.6811|11.6811	0.51458|0.51458|0.51458	0.0:0.0:0.1479:0.8521|0.0:0.0:0.1479:0.8521|0.0:0.0:0.1479:0.8521	.|.|.	.|211|.	.|Q13425|.	.|SNTB2_HUMAN|.	S|A|X	67;47|211|79;52	.|ENSP00000338191:S211A|.	.|ENSP00000338191:S211A|.	I|S|Y	+|+|+	2|1|3	0|0|2	SNTB2|SNTB2|SNTB2	67837056|67837056|67837056	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	4.957000|4.957000|4.957000	0.63652|0.63652|0.63652	2.189000|2.189000|2.189000	0.69895|0.69895|0.69895	0.454000|0.454000|0.454000	0.30748|0.30748|0.30748	ATC|TCA|TAT		0.438	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			8	212	0	0	0	1	0	8	212				
FARP1	10160	broad.mit.edu	37	13	99047515	99047515	+	Missense_Mutation	SNP	G	G	A	rs374346994		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047515G>A	ENST00000319562.6	+	13	1464	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D	FARP1_ENST00000376586.2_Missense_Mutation_p.G400D|FARP1_ENST00000595437.1_Missense_Mutation_p.G400D	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	400					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTGGAGAAGGTGCCGAATCT	0.617																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1198-1200)gGt>gAt		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							35.0	41.0	39.0					13																	99047515		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047515G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1199G>A	13.37:g.99047515G>A	ENSP00000322926:p.Gly400Asp					FARP1_ENST00000595437.1_Missense_Mutation_p.G400D|FARP1_ENST00000319562.6_Missense_Mutation_p.G400D	p.G400D			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1535	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		400					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1199G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513342	0.27123	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.79141	-1.24;-1.06	4.8	3.95	0.45737	.	0.253807	0.38548	N	0.001645	T	0.59959	0.2232	L	0.31294	0.92	0.25038	N	0.991229	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.39292	-0.9621	10	0.12766	T	0.61	.	5.5878	0.17283	0.0772:0.1391:0.6401:0.1437	.	400;400	Q9Y4F1;C9JME2	FARP1_HUMAN;.	D	400;105;400	ENSP00000365771:G400D;ENSP00000322926:G400D	ENSP00000322926:G400D	G	+	2	0	FARP1	97845516	0.071000	0.21146	0.626000	0.29213	0.123000	0.20343	0.694000	0.25512	0.993000	0.38866	0.462000	0.41574	GGT		0.617	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		13	38	0	0	0	1	0	13	38				
EBF1	1879	broad.mit.edu	37	5	158158077	158158077	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158158077C>A	ENST00000313708.6	-	11	1407	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	EBF1_ENST00000517373.1_Splice_Site_p.K367N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Splice_Site_p.K344N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	375					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTATCCTCACCTTTGGCAAAC	0.443			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.e11+1		early B-cell factor 1							59.0	59.0	59.0					5																	158158077		2203	4300	6503	SO:0001630	splice_region_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158158077C>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1125+1G>T	5.37:g.158158077C>A						EBF1_ENST00000517373.1_Splice_Site_p.K367_splice|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Splice_Site_p.K344_splice	p.K375_splice	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1407	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	375					Q8IW11	Splice_Site	SNP	ENST00000313708.6	37	c.1125_splice	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106300	0.94292	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.93076	-3.16;-3.16;-3.16	5.5	5.5	0.81552	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97158	0.9071	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.996;0.92;0.988;0.999	D	0.97409	1.0001	10	0.87932	D	0	-7.8944	19.7622	0.96325	0.0:1.0:0.0:0.0	.	375;362;375;344	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	N	375;375;344;367	ENSP00000322898:K375N;ENSP00000370029:K344N;ENSP00000428020:K367N	ENSP00000322898:K375N	K	-	3	2	EBF1	158090655	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.445000	0.80570	2.732000	0.93576	0.650000	0.86243	AAG		0.443	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	Missense_Mutation	4	27	1	0	0.014758	1	0.0152625	4	27				
DDX54	79039	broad.mit.edu	37	12	113618863	113618863	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113618863G>T	ENST00000306014.5	-	2	202	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Splice_Site_p.L59M	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	59					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGTCCCAGCTGGGAGGGA	0.637																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.e2-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							57.0	56.0	56.0					12																	113618863		2203	4300	6503	SO:0001630	splice_region_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113618863G>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.175-1C>A	12.37:g.113618863G>T						DDX54_ENST00000306014.5_Splice_Site_p.L59_splice	p.L59_splice	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			2	202	-			59					Q86YT8|Q9BRZ1	Splice_Site	SNP	ENST00000306014.5	37	c.174_splice	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918925	0.52546	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.10099	2.91;2.91	4.58	2.66	0.31614	.	0.469142	0.17628	N	0.167481	T	0.07954	0.0199	L	0.36672	1.1	0.27978	N	0.936137	B;B	0.19706	0.038;0.022	B;B	0.18561	0.022;0.015	T	0.24548	-1.0157	10	0.44086	T	0.13	.	4.3449	0.11127	0.0863:0.1567:0.5949:0.1621	.	59;59	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	M	59	ENSP00000323858:L59M;ENSP00000304072:L59M	ENSP00000304072:L59M	L	-	1	2	DDX54	112103246	0.944000	0.32072	0.997000	0.53966	0.590000	0.36582	1.378000	0.34328	0.428000	0.26173	0.563000	0.77884	CTG		0.637	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072	Missense_Mutation	4	42	1	0	0.000602214	1	0.000649039	4	42				
NARS	4677	broad.mit.edu	37	18	55283209	55283209	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55283209T>G	ENST00000256854.5	-	3	549		c.e3-2		NARS_ENST00000423481.2_Splice_Site	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CATCAAAGCCTTGGGTAGGGA	0.348																																						ENST00000256854.5																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20						c.e3-2		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						86.0	81.0	83.0					18																	55283209		2203	4300	6503	SO:0001630	splice_region_variant	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55283209T>G	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.94-2A>C	18.37:g.55283209T>G						NARS_ENST00000423481.2_Splice_Site		NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN			3	549	-		Colorectal(73;0.227)						B4DG16|Q53GU6	Splice_Site	SNP	ENST00000256854.5	37		CCDS32837.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069725	0.55539	.	.	ENSG00000134440	ENST00000256854;ENST00000540592	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1598	0.65438	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NARS	53434207	1.000000	0.71417	0.981000	0.43875	0.748000	0.42578	5.227000	0.65305	2.043000	0.60533	0.472000	0.43445	.		0.348	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539	Intron	3	49	0	0	0	1	0	3	49				
MAU2	23383	broad.mit.edu	37	19	19446943	19446943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19446943G>A	ENST00000392313.6	+	3	486	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MAU2_ENST00000262815.8_Missense_Mutation_p.E103K|MAU2_ENST00000586189.3_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	103	Sufficient for interaction with NIPBL.				maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCCGCAGTTCGAAGATGTTAA	0.463																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(307-309)Gaa>Aaa		MAU2 sister chromatid cohesion factor							133.0	120.0	124.0					19																	19446943		1926	4134	6060	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19446943G>A	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.307G>A	19.37:g.19446943G>A	ENSP00000376127:p.Glu103Lys					MAU2_ENST00000262815.8_Missense_Mutation_p.E103K	p.E103K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			3	353	+			103			Sufficient for interaction with NIPBL.		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.307G>A	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	36	5.690568	0.96793	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.75477	-0.94;-0.94	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	N	0.19112	0.55	0.80722	D	1	D	0.59357	0.985	P	0.48089	0.566	T	0.72283	-0.4339	10	0.51188	T	0.08	.	18.741	0.91773	0.0:0.0:1.0:0.0	.	103	Q9Y6X3	SCC4_HUMAN	K	103	ENSP00000376127:E103K;ENSP00000262815:E103K	ENSP00000262815:E103K	E	+	1	0	MAU2	19307943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.484000	0.97940	2.778000	0.95560	0.655000	0.94253	GAA		0.463	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		30	58	0	0	0	1	0	30	58				
SLC16A9	220963	broad.mit.edu	37	10	61413994	61413994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413994C>A	ENST00000395348.3	-	5	1426	c.790G>T	c.(790-792)Gag>Tag	p.E264*	SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.E264*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	264					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTTTCAGGCTCTTTTGTGTGT	0.413																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(790-792)Gag>Tag		solute carrier family 16, member 9							200.0	192.0	195.0					10																	61413994		2203	4300	6503	SO:0001587	stop_gained	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61413994C>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.790G>T	10.37:g.61413994C>A	ENSP00000378757:p.Glu264*					SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.E264*	p.E264*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			5	1426	-			264					Q6ZMI2|Q9UFH8	Nonsense_Mutation	SNP	ENST00000395348.3	37	c.790G>T	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473235	0.96274	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	.	.	.	5.02	5.02	0.67125	.	1.009620	0.07924	N	0.976374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.3197	0.90234	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000378756:E264X	E	-	1	0	SLC16A9	61084000	1.000000	0.71417	0.450000	0.26969	0.944000	0.59088	4.471000	0.60182	2.321000	0.78463	0.591000	0.81541	GAG		0.413	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		9	206	1	0	0.0477658	1	0.0488009	9	206				
STAG1	10274	broad.mit.edu	37	3	136260977	136260977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136260977G>T	ENST00000383202.2	-	6	711	c.455C>A	c.(454-456)aCt>aAt	p.T152N	STAG1_ENST00000434713.2_De_novo_Start_OutOfFrame|STAG1_ENST00000480733.1_Missense_Mutation_p.T152N|STAG1_ENST00000236698.5_Missense_Mutation_p.T152N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	152					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAATTCTTCAGTCATTTTTCT	0.299																																						ENST00000434713.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58								stromal antigen 1							146.0	140.0	142.0					3																	136260977		2202	4295	6497	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136260977G>T	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.455C>A	3.37:g.136260977G>T	ENSP00000372689:p.Thr152Asn					STAG1_ENST00000236698.5_Missense_Mutation_p.T152N|STAG1_ENST00000480733.1_Missense_Mutation_p.T152N|STAG1_ENST00000383202.2_Missense_Mutation_p.T152N				Q8WVM7	STAG1_HUMAN			0	951	-								O00539|Q6P275	Translation_Start_Site	SNP	ENST00000383202.2	37		CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474642	0.63737	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T	0.27104	1.69;1.69	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.975;1.0;1.0	D;P;D;D	0.87578	0.996;0.873;0.998;0.996	T	0.57376	-0.7822	10	0.42905	T	0.14	.	18.6948	0.91596	0.0:0.0:1.0:0.0	.	169;152;152;152	Q4LE48;C9JJQ0;Q6P275;Q8WVM7	.;.;.;STAG1_HUMAN	N	152	ENSP00000372689:T152N;ENSP00000236698:T152N	ENSP00000236698:T152N	T	-	2	0	STAG1	137743667	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.197000	0.89727	2.589000	0.87451	0.462000	0.41574	ACT		0.299	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		27	49	1	0	2.12542e-12	1	2.67336e-12	27	49				
SYNE1	23345	broad.mit.edu	37	6	152476032	152476032	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152476032A>T	ENST00000367255.5	-	133	24725	c.24124T>A	c.(24124-24126)Ttt>Att	p.F8042I	SYNE1_ENST00000356820.4_Missense_Mutation_p.F2566I|SYNE1_ENST00000539504.1_Missense_Mutation_p.F197I|SYNE1_ENST00000265368.4_Missense_Mutation_p.F8042I|SYNE1_ENST00000341594.5_Missense_Mutation_p.F7654I|SYNE1_ENST00000448038.1_Missense_Mutation_p.F7971I|SYNE1_ENST00000354674.4_Missense_Mutation_p.F197I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.F7971I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8042					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTACCTCAAATTTCTTTAGT	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24124-24126)Ttt>Att		spectrin repeat containing, nuclear envelope 1							77.0	86.0	82.0					6																	152476032		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152476032A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24124T>A	6.37:g.152476032A>T	ENSP00000356224:p.Phe8042Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.F7654I|SYNE1_ENST00000265368.4_Missense_Mutation_p.F8042I|SYNE1_ENST00000448038.1_Missense_Mutation_p.F7971I|SYNE1_ENST00000356820.4_Missense_Mutation_p.F2566I|SYNE1_ENST00000539504.1_Missense_Mutation_p.F197I|SYNE1_ENST00000354674.4_Missense_Mutation_p.F197I|SYNE1_ENST00000423061.1_Missense_Mutation_p.F7971I	p.F8042I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	133	24725	-		Ovarian(120;0.0955)	8042					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24124T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	33	5.273593	0.95459	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.50277	1.32;0.75;0.75;1.32;1.32;1.32;1.32;0.75;0.75;0.75	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000011	T	0.65657	0.2712	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.988	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.934	T	0.69957	-0.5004	10	0.59425	D	0.04	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	8042;8042;7971;7971;244	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	8042;197;688;7971;8042;7971;7654;2566;204;199;964;197	ENSP00000356224:F8042I;ENSP00000441052:F197I;ENSP00000356226:F688I;ENSP00000396024:F7971I;ENSP00000265368:F8042I;ENSP00000390975:F7971I;ENSP00000341887:F7654I;ENSP00000349276:F2566I;ENSP00000356220:F964I;ENSP00000346701:F197I	ENSP00000265368:F8042I	F	-	1	0	SYNE1	152517725	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.228000	0.95250	2.324000	0.78689	0.533000	0.62120	TTT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	117	0	0	0	1	0	9	117				
TBC1D3P5	440419	broad.mit.edu	37	17	25758240	25758240	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25758240G>A	ENST00000586223.1	+	0	2674					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		CCCATTCACAGCTAGGGACAA	0.557											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000586223.1																			0																																																			0							g.chr17:25758240G>A			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25758240G>A			OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	781			NR_033892.1						0	2674	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.557	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		8	6	0	0	0	1	0	8	6				
ASXL1	171023	broad.mit.edu	37	20	31017711	31017711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31017711G>A	ENST00000375687.4	+	8	997	c.573G>A	c.(571-573)tcG>tcA	p.S191S	ASXL1_ENST00000306058.5_Silent_p.S186S|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	191	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGGGTTCTCGGGCTGCCACG	0.642			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(571-573)tcG>tcA		additional sex combs like 1 (Drosophila)							25.0	30.0	28.0					20																	31017711		2104	4132	6236	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31017711G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.573G>A	20.37:g.31017711G>A						ASXL1_ENST00000306058.5_Silent_p.S186S|ASXL1_ENST00000470145.1_3'UTR	p.S191S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			8	997	+			191					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.573G>A	CCDS13201.1																																																																																				0.642	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		23	31	0	0	0	1	0	23	31				
AQR	9716	broad.mit.edu	37	15	35166166	35166166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35166166G>T	ENST00000156471.5	-	30	3685	c.3460C>A	c.(3460-3462)Cta>Ata	p.L1154I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1154					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCCTAGATTCTTGTAT	0.388																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3460-3462)Cta>Ata		aquarius intron-binding spliceosomal factor							78.0	74.0	75.0					15																	35166166		1843	4094	5937	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35166166G>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3460C>A	15.37:g.35166166G>T	ENSP00000156471:p.Leu1154Ile						p.L1154I	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	30	3685	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1154					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3460C>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900387	0.92035	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.96104	-3.91	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.91561	3.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98805	1.0741	10	0.56958	D	0.05	-9.5625	18.6556	0.91452	0.0:0.0:1.0:0.0	.	1154	O60306	AQR_HUMAN	I	1154	ENSP00000156471:L1154I	ENSP00000156471:L1154I	L	-	1	2	AQR	32953458	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	5.621000	0.67743	2.476000	0.83614	0.650000	0.86243	CTA		0.388	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		21	36	1	0	7.41877e-09	1	8.93215e-09	21	36				
CDAN1	146059	broad.mit.edu	37	15	43023931	43023931	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023931C>T	ENST00000356231.3	-	11	1649	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	542					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTAGGCGCCACAACCGCCCCA	0.632																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(1624-1626)ttG>ttA		codanin 1							40.0	44.0	43.0					15																	43023931		2203	4299	6502	SO:0001819	synonymous_variant	146059					integral to membrane	protein binding	g.chr15:43023931C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1626G>A	15.37:g.43023931C>T							p.L542L	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	11	1649	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	542					Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	c.1626G>A	CCDS32209.1																																																																																				0.632	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		8	64	0	0	0	1	0	8	64				
RMND1	55005	broad.mit.edu	37	6	151766610	151766610	+	Silent	SNP	G	G	A	rs150212790		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151766610G>A	ENST00000367303.4	-	2	459	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	113					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAACCCAACAGATTTGGTTTG	0.408																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(337-339)Ctg>Ttg		required for meiotic nuclear division 1 homolog (S. cerevisiae)		G		1,4405	2.1+/-5.4	0,1,2202	143.0	140.0	141.0		337	2.5	0.0	6	dbSNP_134	141	0,8600		0,0,4300	no	coding-synonymous	RMND1	NM_017909.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		113/450	151766610	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55005							g.chr6:151766610G>A	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.337C>T	6.37:g.151766610G>A						RMND1_ENST00000491268.1_5'UTR	p.L113L	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	459	-		Ovarian(120;0.125)	113					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	ENST00000367303.4	37	c.337C>T	CCDS5232.1																																																																																				0.408	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		62	113	0	0	0	1	0	62	113				
NELL2	4753	broad.mit.edu	37	12	45108472	45108472	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45108472G>T	ENST00000429094.2	-	10	1551	c.1047C>A	c.(1045-1047)gtC>gtA	p.V349V	NELL2_ENST00000452445.2_Silent_p.V349V|NELL2_ENST00000437801.2_Silent_p.V399V|NELL2_ENST00000551601.1_Silent_p.V348V|NELL2_ENST00000395487.2_Silent_p.V348V|NELL2_ENST00000333837.4_Silent_p.V372V|NELL2_ENST00000549027.1_Silent_p.V348V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	349						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAGAGGAATAGACTGTATTTC	0.313																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1045-1047)gtC>gtA		NEL-like 2 (chicken)							81.0	78.0	79.0					12																	45108472		2203	4298	6501	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45108472G>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1047C>A	12.37:g.45108472G>T						NELL2_ENST00000395487.2_Silent_p.V348V|NELL2_ENST00000549027.1_Silent_p.V348V|NELL2_ENST00000437801.2_Silent_p.V399V|NELL2_ENST00000551601.1_Silent_p.V348V|NELL2_ENST00000452445.2_Silent_p.V349V|NELL2_ENST00000333837.4_Silent_p.V372V	p.V349V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	10	1551	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	349			VWFC 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1047C>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	3.284	-0.146385	0.06627	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.78	0.321	0.15883	.	.	.	.	.	T	0.44371	0.1290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	-9.9787	3.8048	0.08773	0.2492:0.0:0.3857:0.3651	.	.	.	.	Y	93	.	.	S	-	2	0	NELL2	43394739	0.996000	0.38824	0.968000	0.41197	0.369000	0.29798	0.280000	0.18790	0.121000	0.18284	-0.229000	0.12294	TCT		0.313	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		21	49	1	0	3.28513e-13	1	4.1605e-13	21	49				
HECTD3	79654	broad.mit.edu	37	1	45475919	45475919	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45475919T>C	ENST00000372172.4	-	3	648	c.577A>G	c.(577-579)Aga>Gga	p.R193G	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	193					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGAGGTCTCGATCCCAGG	0.597																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(577-579)Aga>Gga		HECT domain containing E3 ubiquitin protein ligase 3							132.0	130.0	131.0					1																	45475919		2091	4229	6320	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45475919T>C	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.577A>G	1.37:g.45475919T>C	ENSP00000361245:p.Arg193Gly						p.R193G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			3	648	-	Acute lymphoblastic leukemia(166;0.155)		193					B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.577A>G	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486120	0.44147	.	.	ENSG00000126107	ENST00000372172	T	0.63255	-0.03	4.13	2.9	0.33743	Galactose-binding domain-like (1);	0.357660	0.29389	N	0.012284	T	0.39911	0.1096	N	0.08118	0	0.80722	D	1	B	0.19817	0.039	B	0.17098	0.017	T	0.42413	-0.9453	10	0.66056	D	0.02	.	10.4754	0.44661	0.0:0.0:0.1618:0.8382	.	193	Q5T447	HECD3_HUMAN	G	193	ENSP00000361245:R193G	ENSP00000361245:R193G	R	-	1	2	HECTD3	45248506	0.490000	0.26012	0.962000	0.40283	0.977000	0.68977	2.964000	0.49192	1.872000	0.54250	0.533000	0.62120	AGA		0.597	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		12	33	0	0	0	1	0	12	33				
RNASEH2B	79621	broad.mit.edu	37	13	51504821	51504821	+	Missense_Mutation	SNP	G	G	T	rs76158094		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51504821G>T	ENST00000336617.3	+	4	646	c.247G>T	c.(247-249)Ggt>Tgt	p.G83C	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.G83C	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	83			G -> S (in AGS2; reduces stability of the RNase complex). {ECO:0000269|PubMed:17846997}.		in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		ATCTGCAGGAGGTCTTCTCCA	0.418																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5	GRCh37	CM074481	RNASEH2B	M	rs76158094	c.(247-249)Ggt>Tgt		ribonuclease H2, subunit B							217.0	208.0	211.0					13																	51504821		2203	4300	6503	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51504821G>T	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.247G>T	13.37:g.51504821G>T	ENSP00000337623:p.Gly83Cys					RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.G83C	p.G83C	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	4	646	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	83					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.247G>T	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720678	0.68959	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.97505	-4.41;-4.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99478	1.0947	10	0.62326	D	0.03	-14.5194	16.1063	0.81225	0.0:0.0:1.0:0.0	.	83;83	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	C	83	ENSP00000337623:G83C;ENSP00000389877:G83C	ENSP00000337623:G83C	G	+	1	0	RNASEH2B	50402822	1.000000	0.71417	0.987000	0.45799	0.800000	0.45204	6.037000	0.70956	2.475000	0.83589	0.655000	0.94253	GGT		0.418	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		20	121	1	0	7.41877e-09	1	8.93215e-09	20	121				
RBM19	9904	broad.mit.edu	37	12	114383697	114383697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114383697G>A	ENST00000545145.2	-	13	1640	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	RBM19_ENST00000261741.5_Missense_Mutation_p.P521L|RBM19_ENST00000392561.3_Missense_Mutation_p.P521L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	521					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACGGCATTCGGCCCCATGAA	0.562																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1561-1563)cCg>cTg		RNA binding motif protein 19							124.0	96.0	106.0					12																	114383697		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114383697G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1562C>T	12.37:g.114383697G>A	ENSP00000442053:p.Pro521Leu					RBM19_ENST00000392561.3_Missense_Mutation_p.P521L|RBM19_ENST00000261741.5_Missense_Mutation_p.P521L	p.P521L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			13	1640	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		521					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1562C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302301	0.40694	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05649	3.41;3.41;3.41	4.71	4.71	0.59529	.	0.158283	0.56097	D	0.000036	T	0.04634	0.0126	N	0.16368	0.405	0.47407	D	0.999413	B	0.21381	0.055	B	0.11329	0.006	T	0.46275	-0.9203	10	0.32370	T	0.25	-23.1796	12.1693	0.54148	0.0831:0.0:0.9169:0.0	.	521	Q9Y4C8	RBM19_HUMAN	L	521	ENSP00000442053:P521L;ENSP00000376344:P521L;ENSP00000261741:P521L	ENSP00000261741:P521L	P	-	2	0	RBM19	112868080	1.000000	0.71417	0.970000	0.41538	0.918000	0.54935	7.446000	0.80609	2.165000	0.68154	0.650000	0.86243	CCG		0.562	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		14	16	0	0	0	1	0	14	16				
GPR116	221395	broad.mit.edu	37	6	46836653	46836653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46836653G>T	ENST00000283296.7	-	12	1876	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M	GPR116_ENST00000456426.2_Missense_Mutation_p.L388M|GPR116_ENST00000362015.4_Missense_Mutation_p.L530M|GPR116_ENST00000545669.1_De_novo_Start_InFrame|GPR116_ENST00000265417.7_Missense_Mutation_p.L530M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	530	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGACTGTCAGTACTGATTCT	0.438																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1588-1590)Ctg>Atg		G protein-coupled receptor 116							138.0	137.0	137.0					6																	46836653		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836653G>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1588C>A	6.37:g.46836653G>T	ENSP00000283296:p.Leu530Met					GPR116_ENST00000265417.7_Missense_Mutation_p.L530M|GPR116_ENST00000456426.2_Missense_Mutation_p.L388M|GPR116_ENST00000362015.4_Missense_Mutation_p.L530M|GPR116_ENST00000545669.1_De_novo_Start_InFrame	p.L530M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		12	1876	-			530			Ig-like 3.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1588C>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857506	0.71834	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.23	5.23	0.72850	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000240	T	0.44307	0.1287	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.46624	-0.9178	10	0.87932	D	0	-9.3378	17.7813	0.88524	0.0:0.0:1.0:0.0	.	85;530;388;530	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	M	530;530;530;388;530	ENSP00000283296:L530M;ENSP00000354563:L530M;ENSP00000412866:L388M;ENSP00000265417:L530M	ENSP00000265417:L530M	L	-	1	2	GPR116	46944612	1.000000	0.71417	0.946000	0.38457	0.920000	0.55202	4.501000	0.60393	2.452000	0.82932	0.591000	0.81541	CTG		0.438	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		31	53	1	0	4.65686e-17	1	6.02554e-17	31	53				
PKN1	5585	broad.mit.edu	37	19	14561175	14561175	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14561175G>A	ENST00000242783.6	+	5	821	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	PKN1_ENST00000342216.4_Missense_Mutation_p.R225Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	219					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGAGCTGCGGCACCACTTC	0.667																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(655-657)cGg>cAg		protein kinase N1							17.0	20.0	19.0					19																	14561175		2132	4236	6368	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14561175G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.656G>A	19.37:g.14561175G>A	ENSP00000242783:p.Arg219Gln					PKN1_ENST00000342216.4_Missense_Mutation_p.R225Q	p.R219Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			5	821	+			219					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.656G>A	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173437	0.78452	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.18502	2.21;2.21	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000001	T	0.34135	0.0887	L	0.61036	1.89	0.31128	N	0.708033	D;D	0.89917	0.999;1.0	P;D	0.63597	0.863;0.916	T	0.24799	-1.0150	10	0.32370	T	0.25	-26.6271	13.8642	0.63578	0.0:0.0:1.0:0.0	.	225;219	Q16512-2;Q16512	.;PKN1_HUMAN	Q	219;225	ENSP00000242783:R219Q;ENSP00000343325:R225Q	ENSP00000242783:R219Q	R	+	2	0	PKN1	14422175	0.989000	0.36119	0.998000	0.56505	0.942000	0.58702	6.146000	0.71777	1.933000	0.56026	0.491000	0.48974	CGG		0.667	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		5	7	0	0	0	1	0	5	7				
ARHGAP12	94134	broad.mit.edu	37	10	32197261	32197261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32197261G>A	ENST00000344936.2	-	3	757	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R175C|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R175C	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	175					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R175C(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCAAATGAGCGTGTCCTATTC	0.453																																						ENST00000375250.5																			1	Substitution - Missense(1)	p.R175C(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(523-525)Cgc>Tgc		Rho GTPase activating protein 12							123.0	117.0	119.0					10																	32197261		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197261G>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.523C>T	10.37:g.32197261G>A	ENSP00000345808:p.Arg175Cys					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R175C|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R175C	p.R175C	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			3	764	-		Prostate(175;0.0199)	175					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.523C>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052340	0.55218	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.08458	3.14;3.09;3.16;3.16;3.14	5.84	5.84	0.93424	.	0.463806	0.25411	N	0.030870	T	0.06050	0.0157	N	0.08118	0	0.22354	N	0.999175	P;P;D;P;P;D	0.55385	0.9;0.951;0.971;0.951;0.951;0.971	B;B;P;B;B;P	0.46758	0.296;0.326;0.526;0.326;0.326;0.526	T	0.31475	-0.9942	10	0.62326	D	0.03	.	8.0319	0.30470	0.0794:0.0:0.7505:0.1701	.	175;175;175;175;175;175	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	C	175	ENSP00000310984:R175C;ENSP00000364399:R175C;ENSP00000345808:R175C;ENSP00000379448:R175C;ENSP00000364394:R175C	ENSP00000310984:R175C	R	-	1	0	ARHGAP12	32237267	0.008000	0.16893	0.997000	0.53966	0.997000	0.91878	0.924000	0.28777	2.765000	0.95021	0.655000	0.94253	CGC		0.453	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			37	57	0	0	0	1	0	37	57				
CORO7	79585	broad.mit.edu	37	16	4412704	4412704	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4412704C>T	ENST00000251166.4	-	15	1456	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	CORO7_ENST00000574025.1_Silent_p.S352S|CORO7-PAM16_ENST00000572467.1_Silent_p.S437S|CORO7_ENST00000537233.2_Silent_p.S419S|CORO7_ENST00000539968.1_Silent_p.S217S|CORO7_ENST00000423908.2_Silent_p.S269S	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	437					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCGTGGAGGGCGAGGTCAGCG	0.662																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1309-1311)tcG>tcA		coronin 7							37.0	36.0	36.0					16																	4412704		2195	4298	6493	SO:0001819	synonymous_variant	79585							g.chr16:4412704C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1311G>A	16.37:g.4412704C>T						CORO7_ENST00000539968.1_Silent_p.S217S|CORO7_ENST00000423908.2_Silent_p.S269S|CORO7_ENST00000537233.2_Silent_p.S419S|CORO7-PAM16_ENST00000572467.1_Silent_p.S437S|CORO7_ENST00000574025.1_Silent_p.S352S	p.S437S	NM_024535.4	NP_078811.3					15	1456	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1311G>A	CCDS10513.1																																																																																				0.662	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		12	12	0	0	0	1	0	12	12				
PRAM1	84106	broad.mit.edu	37	19	8563583	8563583	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563583G>T	ENST00000423345.4	-	2	1629	c.1109C>A	c.(1108-1110)cCg>cAg	p.P370Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.P370Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	418	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCTGCGGGTGTCTCTT	0.667																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1108-1110)cCg>cAg		PML-RARA regulated adaptor molecule 1							7.0	9.0	8.0					19																	8563583		2046	4174	6220	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8563583G>T	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1109C>A	19.37:g.8563583G>T	ENSP00000408342:p.Pro370Gln					PRAM1_ENST00000255612.3_Missense_Mutation_p.P370Q	p.P370Q			Q96QH2	PRAM_HUMAN			2	1629	-			418			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.1109C>A	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	9.378	1.072297	0.20147	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14266	2.52;2.52	3.93	-7.86	0.01187	.	2.239300	0.02560	N	0.096581	T	0.15176	0.0366	L	0.48642	1.525	0.09310	N	1	P;P	0.48589	0.912;0.912	B;P	0.47573	0.43;0.55	T	0.43734	-0.9373	10	0.52906	T	0.07	.	7.1583	0.25649	0.4488:0.2549:0.2962:0.0	.	370;418	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	Q	370	ENSP00000255612:P370Q;ENSP00000408342:P370Q	ENSP00000255612:P370Q	P	-	2	0	PRAM1	8469583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.380000	0.01066	-1.284000	0.02390	-0.367000	0.07326	CCG		0.667	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		3	4	1	0	0.115264	1	0.117355	3	4				
AGBL5	60509	broad.mit.edu	37	2	27293046	27293046	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27293046A>C	ENST00000360131.4	+	15	2735	c.2576A>C	c.(2575-2577)aAt>aCt	p.N859T		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	859					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCTGGAATTGTTACAGC	0.547																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(2575-2577)aAt>aCt		ATP/GTP binding protein-like 5							124.0	117.0	119.0					2																	27293046		1854	4096	5950	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27293046A>C	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2576A>C	2.37:g.27293046A>C	ENSP00000353249:p.Asn859Thr						p.N859T	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			15	2735	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		859					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.2576A>C	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.382876	0.01194	.	.	ENSG00000084693	ENST00000360131	T	0.12465	2.68	5.21	-3.66	0.04489	.	1.025690	0.07710	N	0.941944	T	0.04227	0.0117	N	0.03608	-0.345	0.23784	N	0.996859	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	10	0.02654	T	1	-17.1646	7.9717	0.30132	0.16:0.6049:0.0:0.2351	.	859	Q8NDL9	CBPC5_HUMAN	T	859	ENSP00000353249:N859T	ENSP00000353249:N859T	N	+	2	0	AGBL5	27146550	0.579000	0.26725	0.973000	0.42090	0.629000	0.37895	-0.702000	0.05069	-0.516000	0.06470	-0.527000	0.04329	AAT		0.547	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		30	38	0	0	0	1	0	30	38				
SLC9A1	6548	broad.mit.edu	37	1	27426981	27426981	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426981G>A	ENST00000263980.3	-	12	2840	c.2265C>T	c.(2263-2265)gaC>gaT	p.D755D	SLC9A1_ENST00000545949.1_Silent_p.D416D|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	755					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGTCGTCCTCGTCCTCCTCAG	0.617																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2263-2265)gaC>gaT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						209.0	191.0	197.0					1																	27426981		2203	4300	6503	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27426981G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2265C>T	1.37:g.27426981G>A						SLC9A1_ENST00000545949.1_Silent_p.D416D	p.D755D	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2840	-			755					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.2265C>T	CCDS295.1																																																																																				0.617	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		71	113	0	0	0	1	0	71	113				
CDKL5	6792	broad.mit.edu	37	X	18622863	18622863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622863C>T	ENST00000379989.3	+	13	2104	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.R607C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	607					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCCCAGCAACGTCCTCATAG	0.522																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1819-1821)Cgt>Tgt		cyclin-dependent kinase-like 5							192.0	188.0	189.0					X																	18622863		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622863C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1819C>T	X.37:g.18622863C>T	ENSP00000369325:p.Arg607Cys					CDKL5_ENST00000379996.3_Missense_Mutation_p.R607C|CDKL5_ENST00000463994.1_3'UTR	p.R607C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			13	2104	+	Hepatocellular(33;0.183)		607					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1819C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393023	0.62066	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.80824	-1.42;-1.42	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	L	0.36672	1.1	0.53688	D	0.999975	D	0.89917	1.0	P	0.60609	0.877	D	0.86199	0.1617	10	0.87932	D	0	-16.4095	19.1122	0.93321	0.0:1.0:0.0:0.0	.	607	O76039	CDKL5_HUMAN	C	607	ENSP00000369332:R607C;ENSP00000369325:R607C	ENSP00000369325:R607C	R	+	1	0	CDKL5	18532784	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	5.508000	0.67006	2.463000	0.83235	0.600000	0.82982	CGT		0.522	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		103	180	0	0	0	1	0	103	180				
PHF20L1	51105	broad.mit.edu	37	8	133854925	133854925	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854925A>G	ENST00000395386.2	+	19	2852	c.2553A>G	c.(2551-2553)aaA>aaG	p.K851K	PHF20L1_ENST00000395390.2_Silent_p.K826K|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.K238K|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	851							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCCCCTAAAAATGGAAGGAA	0.403																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(2551-2553)aaA>aaG		PHD finger protein 20-like 1							61.0	58.0	59.0					8																	133854925		1832	4086	5918	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133854925A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2553A>G	8.37:g.133854925A>G						PHF20L1_ENST00000395390.2_Silent_p.K826K|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.K238K	p.K851K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	2852	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		851					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.2553A>G	CCDS6367.2																																																																																				0.403	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		4	50	0	0	0	1	0	4	50				
TRPM4	54795	broad.mit.edu	37	19	49685991	49685991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49685991C>T	ENST00000252826.5	+	11	1546	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R474C|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.R120C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	474					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCGCTCATCCGCAACCTTTT	0.672																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(1420-1422)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 4							36.0	36.0	36.0					19																	49685991		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49685991C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1420C>T	19.37:g.49685991C>T	ENSP00000252826:p.Arg474Cys					TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.R474C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R120C	p.R474C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	11	1546	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	474					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1420C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	c	6.188	0.402861	0.11696	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;D;D	0.82344	-1.6;-1.6;-1.6	4.18	1.77	0.24775	.	0.425981	0.18595	U	0.136632	D	0.87557	0.6207	M	0.73962	2.25	0.19945	N	0.999946	D;D;D;D	0.76494	0.997;0.997;0.999;0.998	P;P;D;P	0.63113	0.719;0.799;0.911;0.634	T	0.77482	-0.2571	10	0.62326	D	0.03	-8.8501	8.6151	0.33826	0.1678:0.6688:0.1634:0.0	.	120;300;474;474	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	474;474;120	ENSP00000252826:R474C;ENSP00000407492:R474C;ENSP00000347944:R120C	ENSP00000252826:R474C	R	+	1	0	TRPM4	54377803	0.029000	0.19370	0.565000	0.28409	0.176000	0.22953	0.779000	0.26746	0.875000	0.35847	0.436000	0.28706	CGC		0.672	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		19	27	0	0	0	1	0	19	27				
ARHGEF37	389337	broad.mit.edu	37	5	149011551	149011551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149011551G>T	ENST00000333677.6	+	13	1988	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	609	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCAGGTCATAGCCGCGTACCC	0.562																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1825-1827)Gcc>Tcc		Rho guanine nucleotide exchange factor (GEF) 37							89.0	84.0	86.0					5																	149011551		2058	4208	6266	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149011551G>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1825G>T	5.37:g.149011551G>T	ENSP00000328083:p.Ala609Ser						p.A609S	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			13	1988	+			609			SH3 2.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1825G>T	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573537	0.65765	.	.	ENSG00000183111	ENST00000333677	T	0.81330	-1.48	5.3	5.3	0.74995	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	M	0.90595	3.13	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93228	0.6615	10	0.72032	D	0.01	.	18.5446	0.91042	0.0:0.0:1.0:0.0	.	609	A1IGU5	ARH37_HUMAN	S	609	ENSP00000328083:A609S	ENSP00000328083:A609S	A	+	1	0	ARHGEF37	148991744	1.000000	0.71417	0.905000	0.35620	0.035000	0.12851	8.728000	0.91484	2.466000	0.83321	0.655000	0.94253	GCC		0.562	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		14	21	1	0	0.00316338	1	0.00334491	14	21				
PTCD3	55037	broad.mit.edu	37	2	86364603	86364603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86364603G>T	ENST00000254630.7	+	24	2057	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	664					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAAGCCCTAAGTAATCTAACT	0.478																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(1990-1992)aGt>aTt		pentatricopeptide repeat domain 3							100.0	92.0	95.0					2																	86364603		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86364603G>T		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1991G>T	2.37:g.86364603G>T	ENSP00000254630:p.Ser664Ile						p.S664I	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			24	2057	+			664					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.1991G>T	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	3.991	-0.004408	0.07773	.	.	ENSG00000132300	ENST00000254630	T	0.32272	1.46	4.48	1.66	0.24008	.	0.958172	0.08725	N	0.902894	T	0.21307	0.0513	L	0.34521	1.04	0.09310	N	0.999994	P;B	0.35745	0.518;0.259	B;B	0.36244	0.22;0.032	T	0.22977	-1.0201	10	0.39692	T	0.17	-3.5917	3.7482	0.08556	0.3072:0.1853:0.5074:0.0	.	255;664	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	I	664	ENSP00000254630:S664I	ENSP00000254630:S664I	S	+	2	0	PTCD3	86218114	0.318000	0.24598	0.174000	0.22961	0.004000	0.04260	0.543000	0.23237	0.601000	0.29879	-0.140000	0.14226	AGT		0.478	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		11	19	1	0	6.42651e-13	1	8.11738e-13	11	19				
FOXE1	2304	broad.mit.edu	37	9	100616505	100616505	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100616505C>T	ENST00000375123.3	+	1	970	c.309C>T	c.(307-309)caC>caT	p.H103H		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	103					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCATCCGCCACAACCTCACAC	0.632																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(307-309)caC>caT		forkhead box E1 (thyroid transcription factor 2)							44.0	44.0	44.0					9																	100616505		2201	4300	6501	SO:0001819	synonymous_variant	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616505C>T	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.309C>T	9.37:g.100616505C>T							p.H103H	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	970	+		Acute lymphoblastic leukemia(62;0.158)	103					O75765|Q5T109|Q99526	Silent	SNP	ENST00000375123.3	37	c.309C>T	CCDS35078.1																																																																																				0.632	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			4	37	0	0	0	1	0	4	37				
MCTP2	55784	broad.mit.edu	37	15	94841867	94841867	+	Missense_Mutation	SNP	G	G	A	rs377631883		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94841867G>A	ENST00000357742.4	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	MCTP2_ENST00000451018.3_Missense_Mutation_p.A125T|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.A125T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	125					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGAGGCCTATGCCTCTCCTGC	0.527																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(373-375)Gcc>Acc		multiple C2 domains, transmembrane 2		G	THR/ALA,THR/ALA	1,4393	2.1+/-5.4	0,1,2196	95.0	93.0	94.0		373,373	0.9	0.0	15		94	0,8596		0,0,4298	no	missense,missense	MCTP2	NM_001159643.1,NM_018349.3	58,58	0,1,6494	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	125/824,125/879	94841867	1,12989	2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841867G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.373G>A	15.37:g.94841867G>A	ENSP00000350377:p.Ala125Thr					MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.A125T|MCTP2_ENST00000451018.3_Missense_Mutation_p.A125T	p.A125T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	373	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		125					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.373G>A	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897471	0.33535	2.28E-4	0.0	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.70045	-0.45;-0.22;-0.07	5.04	0.858	0.19030	.	0.549976	0.16598	N	0.207458	T	0.36276	0.0961	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001	B;B;B;B;B	0.09377	0.002;0.001;0.0;0.0;0.004	T	0.10847	-1.0612	10	0.32370	T	0.25	.	0.6935	0.00895	0.2531:0.1297:0.3528:0.2643	.	125;125;125;125;125	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	T	125	ENSP00000438521:A125T;ENSP00000395109:A125T;ENSP00000350377:A125T	ENSP00000350377:A125T	A	+	1	0	MCTP2	92642871	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	0.083000	0.14871	0.150000	0.19136	0.563000	0.77884	GCC		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		48	69	0	0	0	1	0	48	69				
GRK4	2868	broad.mit.edu	37	4	3015421	3015421	+	Missense_Mutation	SNP	G	G	A	rs572038787		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3015421G>A	ENST00000398052.4	+	8	950	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GRK4_ENST00000504933.1_Missense_Mutation_p.A203T|GRK4_ENST00000345167.6_Missense_Mutation_p.A171T|GRK4_ENST00000398051.4_Missense_Mutation_p.A171T	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTAGGTTTGCGCCTGTCAAGT	0.418																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(607-609)Gcc>Acc		G protein-coupled receptor kinase 4							165.0	178.0	173.0					4																	3015421		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3015421G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.607G>A	4.37:g.3015421G>A	ENSP00000381129:p.Ala203Thr					GRK4_ENST00000398051.4_Missense_Mutation_p.A171T|GRK4_ENST00000345167.6_Missense_Mutation_p.A171T|GRK4_ENST00000504933.1_Missense_Mutation_p.A203T	p.A203T	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	950	+			203			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.607G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840980	0.91197	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.53	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.40473	0.1118	L	0.41710	1.295	0.80722	D	1	D;D;D;D	0.89917	0.995;0.995;0.999;1.0	P;P;P;P	0.62740	0.676;0.82;0.775;0.906	T	0.35798	-0.9774	10	0.87932	D	0	-12.8628	16.3062	0.82849	0.0:0.0:1.0:0.0	.	171;171;203;203	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	T	171;203;171;203	ENSP00000381128:A171T;ENSP00000381129:A203T;ENSP00000264764:A171T;ENSP00000427445:A203T	ENSP00000264764:A171T	A	+	1	0	GRK4	2985219	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.500000	0.97977	2.062000	0.61559	0.585000	0.79938	GCC		0.418	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		71	132	0	0	0	1	0	71	132				
ALDH1B1	219	broad.mit.edu	37	9	38395947	38395947	+	Missense_Mutation	SNP	G	G	A	rs143477600	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38395947G>A	ENST00000377698.3	+	2	355	c.202G>A	c.(202-204)Gtg>Atg	p.V68M		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	68					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CATTGGGCACGTGGCTGAAGG	0.617													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18761	0.0		0.0	False		,,,				2504	0.0					ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(202-204)Gtg>Atg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	87.0	82.0	83.0		202	5.7	1.0	9	dbSNP_134	83	0,8600		0,0,4300	no	missense	ALDH1B1	NM_000692.4	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	68/518	38395947	1,13005	2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395947G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.202G>A	9.37:g.38395947G>A	ENSP00000366927:p.Val68Met						p.V68M	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	355	+			68					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.202G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040228	0.75732	2.27E-4	0.0	ENSG00000137124	ENST00000377698	T	0.80033	-1.33	5.66	5.66	0.87406	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.56097	D	0.000024	D	0.91851	0.7421	M	0.91300	3.195	0.54753	D	0.999983	D	0.89917	1.0	D	0.77004	0.989	D	0.93238	0.6623	10	0.87932	D	0	.	17.2542	0.87051	0.0:0.0:1.0:0.0	.	68	P30837	AL1B1_HUMAN	M	68	ENSP00000366927:V68M	ENSP00000366927:V68M	V	+	1	0	ALDH1B1	38385947	1.000000	0.71417	0.964000	0.40570	0.860000	0.49131	6.856000	0.75450	2.675000	0.91044	0.655000	0.94253	GTG		0.617	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			30	41	0	0	0	1	0	30	41				
PIGA	5277	broad.mit.edu	37	X	15349838	15349838	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15349838T>C	ENST00000333590.4	-	2	299	c.215A>G	c.(214-216)cAt>cGt	p.H72R	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	72					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCCATAAGCATGGGTGACAAT	0.458																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(214-216)cAt>cGt		phosphatidylinositol glycan anchor biosynthesis, class A							153.0	127.0	136.0					X																	15349838		2203	4300	6503	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15349838T>C	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.215A>G	X.37:g.15349838T>C	ENSP00000369820:p.His72Arg					PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR	p.H72R	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			2	299	-	Hepatocellular(33;0.183)		72					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.215A>G	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377089	0.61735	.	.	ENSG00000165195	ENST00000333590	T	0.74632	-0.86	6.08	4.91	0.64330	PIGA, GPI anchor biosynthesis (1);	0.088374	0.85682	D	0.000000	D	0.83580	0.5285	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.97110	1.0;0.883;1.0	T	0.81252	-0.1017	10	0.31617	T	0.26	-3.2841	10.3738	0.44071	0.0:0.0766:0.0:0.9234	.	72;72;72	A8K382;P37287-2;P37287	.;.;PIGA_HUMAN	R	72	ENSP00000369820:H72R	ENSP00000369820:H72R	H	-	2	0	PIGA	15259759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.614000	0.82996	0.889000	0.36185	0.486000	0.48141	CAT		0.458	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		49	84	0	0	0	1	0	49	84				
PTGES3L	100885848	broad.mit.edu	37	17	41131210	41131210	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41131210G>A	ENST00000453594.1	-	3	664				PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R132W|RUNDC1_ENST00000361677.1_5'Flank|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R71W|PTGES3L_ENST00000409446.3_Missense_Mutation_p.R94W|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R71W|RP11-376M2.2_ENST00000587526.1_RNA|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.R132W	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like																		TTGGTAAGCCGCGGCCAGGCC	0.517																																						ENST00000421990.2																			0											c.(394-396)Cgg>Tgg									178.0	185.0	183.0					17																	41131210		2203	4300	6503	SO:0001627	intron_variant	0							g.chr17:41131210G>A		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.318+184C>T	17.37:g.41131210G>A						PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R132W|PTGES3L_ENST00000409446.3_Missense_Mutation_p.R94W|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R71W|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R71W|PTGES3L_ENST00000453594.1_Intron	p.R132W	NM_001136042.2	NP_001129514.2					4	739	-									Missense_Mutation	SNP	ENST00000453594.1	37	c.394C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.989833|3.989833	0.74589|0.74589	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000452752|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000409446	.|T;T;T;T;T;T	.|0.35605	.|1.3;1.3;1.3;1.3;1.3;1.3	4.88|4.88	2.84|2.84	0.33178|0.33178	.|.	.|0.067681	.|0.64402	.|D	.|0.000013	T|T	0.61677|0.61677	0.2366|0.2366	M|M	0.82630|0.82630	2.6|2.6	.|0.38364	.|D	.|0.944699	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.995;0.991;0.991	T|T	0.73924|0.73924	-0.3829|-0.3829	4|9	.|0.72032	.|D	.|0.01	-22.8492|-22.8492	13.9392|13.9392	0.64043|0.64043	0.0:0.0:0.7241:0.2759|0.0:0.0:0.7241:0.2759	.|.	.|94;132;71;89	.|B9A003;B4DI73;C9J5N1;B3KSP9	.|.;.;.;.	V|W	60|71;132;132;71;71;94	.|ENSP00000353355:R71W;ENSP00000386621:R132W;ENSP00000409924:R132W;ENSP00000386254:R71W;ENSP00000407951:R71W;ENSP00000386902:R94W	.|ENSP00000353355:R71W	A|R	-|-	2|1	0|2	AARSD1|AARSD1	38384736|38384736	0.913000|0.913000	0.31002|0.31002	0.967000|0.967000	0.41034|0.41034	0.991000|0.991000	0.79684|0.79684	1.393000|1.393000	0.34497|0.34497	0.614000|0.614000	0.30107|0.30107	0.643000|0.643000	0.83706|0.83706	GCG|CGG		0.517	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		8	207	0	0	0	1	0	8	207				
SCN4A	6329	broad.mit.edu	37	17	62020442	62020442	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62020442G>A	ENST00000435607.1	-	23	4108	c.4032C>T	c.(4030-4032)ggC>ggT	p.G1344G	SCN4A_ENST00000578147.1_Silent_p.G1344G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1344					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)	CATACACCATGCCCTGGATCT	0.567																																						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.(4030-4032)ggC>ggT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						176.0	163.0	167.0					17																	62020442		2203	4300	6503	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62020442G>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.4032C>T	17.37:g.62020442G>A						SCN4A_ENST00000578147.1_Silent_p.G1344G	p.G1344G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			23	4108	-			1344					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.4032C>T	CCDS45761.1																																																																																				0.567	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		52	74	0	0	0	1	0	52	74				
RBMS2	5939	broad.mit.edu	37	12	56980711	56980711	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56980711G>T	ENST00000262031.5	+	10	1046		c.e10+1		RNU6-343P_ENST00000364709.1_RNA|RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000542360.1_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GCAGCCTTCAGTGAGTATTCA	0.458																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.e10+1		RNA binding motif, single stranded interacting protein 2							123.0	116.0	118.0					12																	56980711		2203	4300	6503	SO:0001630	splice_region_variant	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56980711G>T	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.951+1G>T	12.37:g.56980711G>T						RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000542360.1_Splice_Site		NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			10	1046	+									Splice_Site	SNP	ENST00000262031.5	37		CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311245	0.81358	.	.	ENSG00000076067	ENST00000262031;ENST00000550726;ENST00000542360	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1382	0.81506	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55266978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.478000	0.90428	2.527000	0.85204	0.563000	0.77884	.		0.458	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898	Intron	31	67	1	0	1.26612e-14	1	1.61806e-14	31	67				
XIRP2	129446	broad.mit.edu	37	2	168106741	168106741	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168106741T>G	ENST00000409195.1	+	9	8928	c.8839T>G	c.(8839-8841)Ttc>Gtc	p.F2947V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2947V|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2725V|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2772					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAGTGGAATTCTTGAGAAA	0.368																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8839-8841)Ttc>Gtc		xin actin-binding repeat containing 2							91.0	89.0	90.0					2																	168106741		1831	4082	5913	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106741T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8839T>G	2.37:g.168106741T>G	ENSP00000386840:p.Phe2947Val					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2725V|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2947V|XIRP2_ENST00000420519.1_Intron	p.F2947V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8928	+			2772					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8839T>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151371	0.38021	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	6.02	4.85	0.62838	.	0.457165	0.22842	N	0.054969	T	0.03915	0.0110	M	0.62723	1.935	0.32412	N	0.550519	P;P;P	0.38078	0.483;0.617;0.617	B;B;B	0.31101	0.058;0.124;0.124	T	0.18116	-1.0347	10	0.28530	T	0.3	-2.1736	11.8495	0.52403	0.1312:0.0:0.0:0.8688	.	2772;2772;2725	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	2947;2947;2725;361	ENSP00000386840:F2947V;ENSP00000295237:F2947V;ENSP00000387255:F2725V	ENSP00000295237:F2947V	F	+	1	0	XIRP2	167814987	0.778000	0.28640	1.000000	0.80357	0.866000	0.49608	1.644000	0.37228	1.083000	0.41159	0.533000	0.62120	TTC		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		14	102	0	0	0	1	0	14	102				
DNAH5	1767	broad.mit.edu	37	5	13759067	13759067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13759067C>T	ENST00000265104.4	-	61	10411	c.10307G>A	c.(10306-10308)cGc>cAc	p.R3436H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3436	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGAGATGGCGATTCTCTTG	0.547									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10306-10308)cGc>cAc		dynein, axonemal, heavy chain 5							177.0	159.0	165.0					5																	13759067		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13759067C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10307G>A	5.37:g.13759067C>T	ENSP00000265104:p.Arg3436His						p.R3436H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			61	10411	-	Lung NSC(4;0.00476)		3436			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10307G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649827	0.87958	.	.	ENSG00000039139	ENST00000265104	T	0.74315	-0.83	5.78	5.78	0.91487	Dynein heavy chain, coiled coil stalk (1);	0.053069	0.85682	D	0.000000	D	0.87297	0.6142	M	0.92880	3.355	0.58432	D	0.999999	D	0.67145	0.996	D	0.63113	0.911	D	0.89304	0.3628	10	0.72032	D	0.01	.	11.3161	0.49392	0.0:0.8605:0.0:0.1395	.	3436	Q8TE73	DYH5_HUMAN	H	3436	ENSP00000265104:R3436H	ENSP00000265104:R3436H	R	-	2	0	DNAH5	13812067	1.000000	0.71417	0.976000	0.42696	0.849000	0.48306	6.001000	0.70685	2.742000	0.94016	0.650000	0.86243	CGC		0.547	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		41	69	0	0	0	1	0	41	69				
AP1G2	8906	broad.mit.edu	37	14	24031799	24031799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24031799G>A	ENST00000308724.5	-	14	2169	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.P472S|AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	472					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGCACCAGTGGTTGCTACATG	0.592											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1414-1416)Cca>Tca		adaptor-related protein complex 1, gamma 2 subunit							55.0	46.0	49.0					14																	24031799		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24031799G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1414C>T	14.37:g.24031799G>A	ENSP00000312442:p.Pro472Ser		OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.P472S	p.P472S	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	14	2169	-	all_cancers(95;0.000251)		472					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.1414C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467191	0.43839	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.24538	1.85;1.85	4.94	4.94	0.65067	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.060069	0.64402	D	0.000001	T	0.31263	0.0791	N	0.25825	0.765	0.80722	D	1	D;D	0.65815	0.99;0.995	P;P	0.61477	0.812;0.889	T	0.01734	-1.1285	10	0.09590	T	0.72	-16.403	15.7009	0.77541	0.0:0.0:1.0:0.0	.	472;327	O75843;Q86V28	AP1G2_HUMAN;.	S	472;472;241;327	ENSP00000312442:P472S;ENSP00000380309:P472S	ENSP00000312442:P472S	P	-	1	0	AP1G2	23101639	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	5.764000	0.68826	2.584000	0.87258	0.462000	0.41574	CCA		0.592	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		4	11	0	0	0	1	0	4	11				
KNG1	3827	broad.mit.edu	37	3	186457161	186457161	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186457161G>A	ENST00000265023.4	+	9	1295	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.E325E|KNG1_ENST00000287611.2_Silent_p.E361E	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	361	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TACCCTGGGAGAAAAAAATTT	0.403																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1081-1083)gaG>gaA		kininogen 1	Ouabain(DB01092)						108.0	102.0	104.0					3																	186457161		2203	4300	6503	SO:0001819	synonymous_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186457161G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1083G>A	3.37:g.186457161G>A						KNG1_ENST00000287611.2_Silent_p.E361E|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.E325E	p.E361E	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1295	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		361			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	c.1083G>A	CCDS43183.1																																																																																				0.403	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		28	43	0	0	0	1	0	28	43				
CLDN19	149461	broad.mit.edu	37	1	43204139	43204139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43204139G>A	ENST00000296387.1	-	2	531	c.341C>T	c.(340-342)gCc>gTc	p.A114V	CLDN19_ENST00000539749.1_Missense_Mutation_p.A114V|CLDN19_ENST00000372539.3_Missense_Mutation_p.A114V	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	114					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGGCCCTTGGCAATGGGGTT	0.652																																						ENST00000539749.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(340-342)gCc>gTc		claudin 19							98.0	85.0	89.0					1																	43204139		2203	4300	6503	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43204139G>A	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.341C>T	1.37:g.43204139G>A	ENSP00000296387:p.Ala114Val					CLDN19_ENST00000296387.1_Missense_Mutation_p.A114V|CLDN19_ENST00000372539.3_Missense_Mutation_p.A114V	p.A114V	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN			2	531	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	114					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.341C>T	CCDS471.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109306	0.56398	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.91011	-2.77;-2.07;-2.75	4.89	4.89	0.63831	.	0.105401	0.64402	D	0.000006	D	0.84844	0.5562	N	0.21373	0.66	0.31903	N	0.615691	B;B;B	0.24882	0.113;0.005;0.019	B;B;B	0.30251	0.113;0.009;0.026	T	0.82432	-0.0460	10	0.25751	T	0.34	.	15.5483	0.76126	0.0:0.0:1.0:0.0	.	114;114;114	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	V	114	ENSP00000296387:A114V;ENSP00000443229:A114V;ENSP00000361617:A114V	ENSP00000296387:A114V	A	-	2	0	CLDN19	42976726	1.000000	0.71417	0.997000	0.53966	0.823000	0.46562	6.567000	0.73983	2.266000	0.75297	0.313000	0.20887	GCC		0.652	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		16	21	0	0	0	1	0	16	21				
NUCB2	4925	broad.mit.edu	37	11	17323300	17323300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17323300C>T	ENST00000529010.1	+	5	481	c.262C>T	c.(262-264)Cta>Tta	p.L88L	NUCB2_ENST00000323688.6_Silent_p.L88L|NUCB2_ENST00000458064.2_Silent_p.L88L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	88						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGTGGGAGGCTAAGCAAAGA	0.323																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(262-264)Cta>Tta		nucleobindin 2							103.0	96.0	98.0					11																	17323300		1847	4095	5942	SO:0001819	synonymous_variant	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17323300C>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.262C>T	11.37:g.17323300C>T						NUCB2_ENST00000458064.2_Silent_p.L88L|NUCB2_ENST00000323688.6_Silent_p.L88L	p.L88L	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			5	481	+			88					A8K642|D3DQX5|Q8NFT5	Silent	SNP	ENST00000529010.1	37	c.262C>T	CCDS41623.1																																																																																				0.323	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		25	47	0	0	0	1	0	25	47				
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115406696C>T	ENST00000359988.3	-	10	1223	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_ENST00000369360.3_Missense_Mutation_p.E327K|NRAP_ENST00000360478.3_Missense_Mutation_p.E327K|NRAP_ENST00000369358.4_Missense_Mutation_p.E327K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.E327K(3)|p.E327*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAGCGAGTTCGTGAGCTTTC	0.527																																						ENST00000369358.4																			4	Substitution - Missense(3)|Substitution - Nonsense(1)	p.E327K(3)|p.E327*(1)	large_intestine(4)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(979-981)Gaa>Aaa		nebulin-related anchoring protein							249.0	194.0	213.0					10																	115406696		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115406696C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.979G>A	10.37:g.115406696C>T	ENSP00000353078:p.Glu327Lys					NRAP_ENST00000360478.3_Missense_Mutation_p.E327K|NRAP_ENST00000359988.3_Missense_Mutation_p.E327K|NRAP_ENST00000369360.3_Missense_Mutation_p.E327K	p.E327K			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	10	1223	-		Colorectal(252;0.0233)|Breast(234;0.188)	327						Missense_Mutation	SNP	ENST00000359988.3	37	c.979G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413299	0.62511	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.71	3.87	0.44632	.	0.142736	0.64402	D	0.000006	T	0.49779	0.1577	M	0.77313	2.365	0.37841	D	0.929041	P;P;P	0.49862	0.902;0.929;0.812	P;P;B	0.48795	0.544;0.59;0.311	T	0.54925	-0.8220	10	0.19590	T	0.45	.	12.5859	0.56416	0.0:0.8654:0.0:0.1346	.	327;327;327	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	327;327;327;327;56;56	ENSP00000358365:E327K;ENSP00000358367:E327K;ENSP00000353078:E327K;ENSP00000353666:E327K	ENSP00000353078:E327K	E	-	1	0	NRAP	115396686	1.000000	0.71417	0.977000	0.42913	0.923000	0.55619	5.461000	0.66699	0.884000	0.36064	0.643000	0.83706	GAA		0.527	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		29	61	0	0	0	1	0	29	61				
TEAD1	7003	broad.mit.edu	37	11	12904597	12904597	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904597T>C	ENST00000526600.1	+	4	559	c.336T>C	c.(334-336)ggT>ggC	p.G112G	TEAD1_ENST00000334310.6_Silent_p.G197G|TEAD1_ENST00000361985.2_Silent_p.G208G|TEAD1_ENST00000361905.4_Silent_p.G193G|TEAD1_ENST00000527636.1_Silent_p.G208G|TEAD1_ENST00000527575.1_Silent_p.G208G			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	208					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTGGCAAGGTCGCTCCATTG	0.587																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(577-579)ggT>ggC		TEA domain family member 1 (SV40 transcriptional enhancer factor)							121.0	102.0	108.0					11																	12904597		2200	4294	6494	SO:0001819	synonymous_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12904597T>C	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.336T>C	11.37:g.12904597T>C						TEAD1_ENST00000526600.1_Silent_p.G112G|TEAD1_ENST00000527575.1_Silent_p.G208G|TEAD1_ENST00000334310.6_Silent_p.G197G|TEAD1_ENST00000527636.1_Silent_p.G208G|TEAD1_ENST00000361985.2_Silent_p.G208G	p.G193G	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	9	1244	+			208			Pro-rich.|Transcriptional activation (Potential).		A4FUP2|E7EV65	Silent	SNP	ENST00000526600.1	37	c.579T>C																																																																																					0.587	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		26	54	0	0	0	1	0	26	54				
KIAA1324	57535	broad.mit.edu	37	1	109740233	109740233	+	Silent	SNP	C	C	A	rs547050373		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109740233C>A	ENST00000369939.3	+	16	2442	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	KIAA1324_ENST00000529753.1_Silent_p.A666A|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	753					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTACAAGGCCGGGGTTTCCT	0.552																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2257-2259)gcC>gcA		KIAA1324							52.0	46.0	48.0					1																	109740233		2203	4300	6503	SO:0001819	synonymous_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109740233C>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2259C>A	1.37:g.109740233C>A						KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.A666A	p.A753A	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	16	2442	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	753					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	c.2259C>A	CCDS794.1																																																																																				0.552	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		10	34	1	0	4.68919e-08	1	5.58064e-08	10	34				
GHRH	2691	broad.mit.edu	37	20	35884894	35884894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35884894G>A	ENST00000373614.2	-	3	202	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	GHRH_ENST00000237527.3_Missense_Mutation_p.R31W|GHRH_ENST00000373611.2_Missense_Mutation_p.R31W			P01286	SLIB_HUMAN	growth hormone releasing hormone	31					adenohypophysis development (GO:0021984)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|growth hormone secretion (GO:0030252)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|response to food (GO:0032094)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	growth hormone-releasing hormone activity (GO:0016608)|growth hormone-releasing hormone receptor binding (GO:0031770)			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TCTGCATACCGCCGCATCCTG	0.632																																						ENST00000373614.2																			0				lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(91-93)Cgg>Tgg		growth hormone releasing hormone							51.0	45.0	48.0					20																	35884894		2203	4300	6503	SO:0001583	missense	2691				activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding	g.chr20:35884894G>A		CCDS13292.1, CCDS54460.1	20q11.2	2014-01-30			ENSG00000118702	ENSG00000118702		"""Endogenous ligands"""	4265	protein-coding gene	gene with protein product	"""sermorelin"", ""somatocrinin"", ""somatoliberin"""	139190		GHRF		3918305	Standard	NM_021081		Approved		uc002xgr.3	P01286	OTTHUMG00000032413	ENST00000373614.2:c.91C>T	20.37:g.35884894G>A	ENSP00000362716:p.Arg31Trp					GHRH_ENST00000373611.2_Missense_Mutation_p.R31W|GHRH_ENST00000237527.3_Missense_Mutation_p.R31W	p.R31W			P01286	SLIB_HUMAN			3	202	-		Myeloproliferative disorder(115;0.00878)	31					Q4KN10|Q5JYR1	Missense_Mutation	SNP	ENST00000373614.2	37	c.91C>T	CCDS13292.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488972	0.84962	.	.	ENSG00000118702	ENST00000373614;ENST00000237527;ENST00000373611	T;T;T	0.55930	0.5;0.5;0.49	5.0	2.99	0.34606	.	0.000000	0.51477	D	0.000086	T	0.59865	0.2225	L	0.36672	1.1	0.20489	N	0.999891	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.51426	-0.8707	10	0.87932	D	0	-8.0191	10.143	0.42747	0.0:0.0:0.6365:0.3635	.	31;31	P01286-2;P01286	.;SLIB_HUMAN	W	31	ENSP00000362716:R31W;ENSP00000237527:R31W;ENSP00000362713:R31W	ENSP00000237527:R31W	R	-	1	2	GHRH	35318308	0.422000	0.25473	0.074000	0.20217	0.917000	0.54804	1.014000	0.29950	0.658000	0.30925	0.643000	0.83706	CGG		0.632	GHRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079094.2			19	29	0	0	0	1	0	19	29				
RASSF1	11186	broad.mit.edu	37	3	50368872	50368872	+	Missense_Mutation	SNP	G	G	A	rs146926693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50368872G>A	ENST00000357043.2	-	5	816	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	RASSF1_ENST00000359365.4_Missense_Mutation_p.R257W|RASSF1_ENST00000395126.3_Missense_Mutation_p.R106W|RASSF1_ENST00000327761.3_Missense_Mutation_p.R187W					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AACAGCTTCCGCAAGTACACT	0.582																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(769-771)Cgg>Tgg		Ras association (RalGDS/AF-6) domain family member 1							35.0	38.0	37.0					3																	50368872		2203	4300	6503	SO:0001583	missense	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50368872G>A	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.781C>T	3.37:g.50368872G>A	ENSP00000349547:p.Arg261Trp					RASSF1_ENST00000395126.3_Missense_Mutation_p.R106W|RASSF1_ENST00000357043.2_Missense_Mutation_p.R261W|RASSF1_ENST00000327761.3_Missense_Mutation_p.R187W	p.R257W	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	875	-			261			Ras-associating.			Missense_Mutation	SNP	ENST00000357043.2	37	c.769C>T	CCDS2820.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067678	0.55539	.	.	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.55	4.67	0.58626	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.79805	2.47	0.80722	D	1	D;D;P	0.64830	0.994;0.994;0.801	P;P;P	0.61533	0.89;0.784;0.584	T	0.63589	-0.6603	10	0.72032	D	0.01	-30.8468	12.3682	0.55240	0.0:0.0:0.6934:0.3066	.	257;261;187	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	W	187;106;261;257	ENSP00000333327:R187W;ENSP00000378558:R106W;ENSP00000349547:R261W;ENSP00000352323:R257W	ENSP00000333327:R187W	R	-	1	2	RASSF1	50343876	0.993000	0.37304	1.000000	0.80357	0.787000	0.44495	2.081000	0.41596	1.333000	0.45449	-0.311000	0.09066	CGG		0.582	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			17	20	0	0	0	1	0	17	20				
EZR	7430	broad.mit.edu	37	6	159187958	159187958	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159187958G>A	ENST00000367075.3	-	14	1917	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	EZR_ENST00000337147.7_Silent_p.F583F|EZR_ENST00000392177.4_Silent_p.F551F|MIR3918_ENST00000581555.1_RNA	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	583	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACAGGGCCTCGAACTCGTCGA	0.607			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1747-1749)ttC>ttT		ezrin							170.0	148.0	155.0					6																	159187958		2203	4300	6503	SO:0001819	synonymous_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159187958G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1749C>T	6.37:g.159187958G>A						EZR_ENST00000337147.7_Silent_p.F583F|EZR_ENST00000392177.4_Silent_p.F551F	p.F583F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	14	1917	-		Breast(66;0.000776)|Ovarian(120;0.0303)	583			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	c.1749C>T	CCDS5258.1																																																																																				0.607	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		51	67	0	0	0	1	0	51	67				
PHACTR4	65979	broad.mit.edu	37	1	28818246	28818246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28818246G>A	ENST00000373839.3	+	12	2224	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	PHACTR4_ENST00000373836.3_Missense_Mutation_p.D665N|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	655					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGCTCAAGATTATGACCG	0.468																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1963-1965)Gat>Aat		phosphatase and actin regulator 4							76.0	83.0	81.0					1																	28818246		1912	4141	6053	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28818246G>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1963G>A	1.37:g.28818246G>A	ENSP00000362945:p.Asp655Asn					PHACTR4_ENST00000373836.3_Missense_Mutation_p.D665N|PHACTR4_ENST00000493669.1_3'UTR	p.D655N	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	12	2224	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	655					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1963G>A	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312127	0.95655	.	.	ENSG00000204138	ENST00000373839;ENST00000373836	T;T	0.29655	1.57;1.56	5.77	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	M	0.64404	1.975	0.80722	D	1	B;D	0.89917	0.364;1.0	P;D	0.80764	0.698;0.994	T	0.54768	-0.8244	10	0.62326	D	0.03	-6.779	14.0618	0.64804	0.0725:0.0:0.9275:0.0	.	665;655	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	N	655;665	ENSP00000362945:D655N;ENSP00000362942:D665N	ENSP00000362942:D665N	D	+	1	0	PHACTR4	28690833	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	9.818000	0.99354	1.454000	0.47793	0.558000	0.71614	GAT		0.468	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		32	46	0	0	0	1	0	32	46				
HKDC1	80201	broad.mit.edu	37	10	71016832	71016832	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71016832A>T	ENST00000354624.5	+	13	2010	c.1877A>T	c.(1876-1878)gAc>gTc	p.D626V	HKDC1_ENST00000395086.2_Missense_Mutation_p.D626V	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	626	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGCCACTGACTGTGAAGGG	0.522																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1876-1878)gAc>gTc		hexokinase domain containing 1							205.0	172.0	184.0					10																	71016832		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71016832A>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1877A>T	10.37:g.71016832A>T	ENSP00000346643:p.Asp626Val					HKDC1_ENST00000395086.2_Missense_Mutation_p.D626V	p.D626V	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			13	2010	+			626					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1877A>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781269	0.90282	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99136	-5.47;-5.47	5.61	5.61	0.85477	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.95850	3.73	0.80722	D	1	P	0.35107	0.484	P	0.61397	0.888	D	0.97031	0.9750	10	0.87932	D	0	-28.419	15.7896	0.78343	1.0:0.0:0.0:0.0	.	626	Q2TB90	HKDC1_HUMAN	V	626	ENSP00000346643:D626V;ENSP00000378521:D626V	ENSP00000346643:D626V	D	+	2	0	HKDC1	70686838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.835000	0.55805	2.135000	0.66039	0.375000	0.23000	GAC		0.522	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		10	54	0	0	0	1	0	10	54				
SERPINF2	5345	broad.mit.edu	37	17	1657778	1657778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1657778C>A	ENST00000324015.3	+	10	1503	c.1426C>A	c.(1426-1428)Ctt>Att	p.L476I	SERPINF2_ENST00000382061.4_Missense_Mutation_p.L476I|SERPINF2_ENST00000450523.2_Missense_Mutation_p.L412I	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	476					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TGACTTAAAACTTGTGCCCCC	0.612																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1426-1428)Ctt>Att		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						57.0	63.0	61.0					17																	1657778		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1657778C>A	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1426C>A	17.37:g.1657778C>A	ENSP00000321853:p.Leu476Ile					SERPINF2_ENST00000450523.2_Missense_Mutation_p.L412I|SERPINF2_ENST00000382061.4_Missense_Mutation_p.L476I	p.L476I	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1503	+			476					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.1426C>A	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624304	0.28889	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000382061	D;D;D	0.86097	-2.03;-2.07;-2.03	5.5	1.97	0.26223	.	0.429707	0.20390	N	0.093266	T	0.80259	0.4590	M	0.64997	1.995	0.24078	N	0.995953	P;P	0.42456	0.78;0.78	B;B	0.38106	0.265;0.197	T	0.70163	-0.4947	9	.	.	.	.	9.3826	0.38322	0.0:0.7263:0.0:0.2737	.	412;476	B4E1B7;P08697	.;A2AP_HUMAN	I	476;412;476	ENSP00000321853:L476I;ENSP00000403877:L412I;ENSP00000371493:L476I	.	L	+	1	0	SERPINF2	1604528	0.998000	0.40836	0.860000	0.33809	0.199000	0.23934	1.015000	0.29963	0.701000	0.31803	0.561000	0.74099	CTT		0.612	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		27	54	1	0	3.69857e-22	1	4.87941e-22	27	54				
OR5H14	403273	broad.mit.edu	37	3	97868254	97868254	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97868254C>A	ENST00000437310.1	+	1	85	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAACATTGCTGACAGAGTT	0.383																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(25-27)Ctg>Atg		olfactory receptor, family 5, subfamily H, member 14							48.0	49.0	48.0					3																	97868254		2201	4282	6483	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868254C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.25C>A	3.37:g.97868254C>A	ENSP00000401706:p.Leu9Met						p.L9M	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	85	+			9					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.25C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008203	0.19199	.	.	ENSG00000236032	ENST00000437310	T	0.00518	6.86	2.49	-0.751	0.11076	.	1.142940	0.06990	N	0.821438	T	0.00300	0.0009	N	0.16037	0.36	0.09310	N	1	P	0.50943	0.94	B	0.38921	0.285	T	0.47736	-0.9094	10	0.62326	D	0.03	.	4.4613	0.11668	0.2301:0.3518:0.4181:0.0	.	9	A6NHG9	O5H14_HUMAN	M	9	ENSP00000401706:L9M	ENSP00000401706:L9M	L	+	1	2	OR5H14	99350944	0.006000	0.16342	0.001000	0.08648	0.330000	0.28571	0.148000	0.16224	-0.098000	0.12285	0.195000	0.17529	CTG		0.383	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			53	78	1	0	5.96624e-29	1	7.97991e-29	53	78				
ABCA13	154664	broad.mit.edu	37	7	48313911	48313911	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48313911C>T	ENST00000435803.1	+	17	4672	c.4648C>T	c.(4648-4650)Ctg>Ttg	p.L1550L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1550					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAATAACACTGGGGAAGGA	0.299																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(4648-4650)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 13							51.0	52.0	51.0					7																	48313911		1797	4051	5848	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313911C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4648C>T	7.37:g.48313911C>T							p.L1550L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4672	+			1550					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.4648C>T	CCDS47584.1																																																																																				0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		53	39	0	0	0	1	0	53	39				
CYP4F8	11283	broad.mit.edu	37	19	15728991	15728991	+	RNA	SNP	G	G	T	rs549202090	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15728991G>T	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGGCACAGGAGAACATTGGAG	0.532																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							83.0	85.0	84.0					19																	15728991		2115	4257	6372			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15728991G>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15728991G>T										P98187	CP4F8_HUMAN			0	407	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.532	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		34	50	1	0	3.03874e-20	1	3.98683e-20	34	50				
ESPNP	284729	broad.mit.edu	37	1	17029465	17029465	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17029465G>T	ENST00000492551.1	-	0	900					NR_026567.1				espin pseudogene																		GTGCTGGAAAGCCCTGGGGAG	0.582																																						ENST00000492551.1																			0																																																			0							g.chr1:17029465G>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029465G>T								NR_026567.1						0	900	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.582	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	41	1	0	0.150653	1	0.152692	4	41				
RNH1	6050	broad.mit.edu	37	11	499119	499119	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:499119C>T	ENST00000534797.1	-	4	1917	c.510G>A	c.(508-510)ccG>ccA	p.P170P	RNH1_ENST00000397604.3_Silent_p.P170P|RNH1_ENST00000354420.2_Silent_p.P170P|RNH1_ENST00000438658.2_Silent_p.P170P|RNH1_ENST00000397615.2_Silent_p.P170P|RNH1_ENST00000533410.1_Silent_p.P170P|RNH1_ENST00000356187.5_Silent_p.P170P|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000397614.1_Silent_p.P170P			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGAAGTCCGGCTTGGCCC	0.647																																						ENST00000534797.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(508-510)ccG>ccA		ribonuclease/angiogenin inhibitor 1							65.0	51.0	56.0					11																	499119		2203	4300	6503	SO:0001819	synonymous_variant	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:499119C>T		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.510G>A	11.37:g.499119C>T						RNH1_ENST00000438658.2_Silent_p.P170P|RNH1_ENST00000397615.2_Silent_p.P170P|RNH1_ENST00000533410.1_Silent_p.P170P|RNH1_ENST00000397604.3_Silent_p.P170P|RNH1_ENST00000356187.5_Silent_p.P170P|RNH1_ENST00000397614.1_Silent_p.P170P|RNH1_ENST00000354420.2_Silent_p.P170P	p.P170P			P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1917	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	170		P -> L (in dbSNP:rs17585).			B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000534797.1	37	c.510G>A	CCDS7697.1																																																																																				0.647	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		8	27	0	0	0	1	0	8	27				
MFAP1	4236	broad.mit.edu	37	15	44105297	44105297	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105297G>T	ENST00000267812.3	-	6	1007	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	259					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		AATGCAGCCAGGGATCGCTTG	0.438																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(775-777)Ctg>Atg		microfibrillar-associated protein 1							292.0	272.0	279.0					15																	44105297		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44105297G>T		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.775C>A	15.37:g.44105297G>T	ENSP00000267812:p.Leu259Met						p.L259M	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	6	1007	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	259					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.775C>A	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528179	0.27299	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.24	0.224	0.15297	.	0.000000	0.64402	D	0.000001	T	0.45397	0.1340	L	0.27053	0.805	0.48040	D	0.999578	B	0.34241	0.444	B	0.38880	0.284	T	0.39981	-0.9587	9	0.51188	T	0.08	-12.9897	12.7097	0.57082	0.3784:0.0:0.6216:0.0	.	259	P55081	MFAP1_HUMAN	M	259	.	ENSP00000267812:L259M	L	-	1	2	MFAP1	41892589	0.991000	0.36638	0.990000	0.47175	0.782000	0.44232	2.017000	0.40981	-0.028000	0.13850	-1.814000	0.00607	CTG		0.438	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		67	165	1	0	8.21609e-47	1	1.11026e-46	67	165				
DPY19L1	23333	broad.mit.edu	37	7	34985313	34985313	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34985313A>C	ENST00000310974.4	-	16	1435	c.1291T>G	c.(1291-1293)Tgg>Ggg	p.W431G		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	431						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGACACCCCACATATCACTA	0.264																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1291-1293)Tgg>Ggg		dpy-19-like 1 (C. elegans)							49.0	47.0	47.0					7																	34985313		1789	4036	5825	SO:0001583	missense	23333					integral to membrane		g.chr7:34985313A>C	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1291T>G	7.37:g.34985313A>C	ENSP00000308695:p.Trp431Gly						p.W431G	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			16	1435	-			431					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.1291T>G	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	9.568	1.120380	0.20877	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.53857	0.6;0.6	5.37	4.22	0.49857	.	0.606012	0.18110	N	0.151395	T	0.34164	0.0888	N	0.14661	0.345	0.24866	N	0.992317	B	0.22909	0.077	B	0.30251	0.113	T	0.23368	-1.0190	10	0.26408	T	0.33	-3.418	7.5441	0.27757	0.8998:0.0:0.1002:0.0	.	431	Q2PZI1	D19L1_HUMAN	G	431;201	ENSP00000308695:W431G;ENSP00000400510:W201G	ENSP00000308695:W431G	W	-	1	0	DPY19L1	34951838	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.879000	0.39618	0.995000	0.38917	0.482000	0.46254	TGG		0.264	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			5	56	0	0	0	1	0	5	56				
KIAA0355	9710	broad.mit.edu	37	19	34810870	34810870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34810870C>T	ENST00000299505.6	+	3	1427	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	185										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TTGACTCATGCGTTACAGAAG	0.527																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(553-555)gCg>gTg		KIAA0355							192.0	155.0	168.0					19																	34810870		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34810870C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.554C>T	19.37:g.34810870C>T	ENSP00000299505:p.Ala185Val						p.A185V	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			3	1427	+	Esophageal squamous(110;0.162)		185					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.554C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536367	0.96460	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.71283	-0.4639	9	0.87932	D	0	-10.9158	19.0822	0.93187	0.0:1.0:0.0:0.0	.	185	O15063	K0355_HUMAN	V	185	.	ENSP00000299505:A185V	A	+	2	0	KIAA0355	39502710	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	7.452000	0.80683	2.511000	0.84671	0.563000	0.77884	GCG		0.527	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		7	114	0	0	0	1	0	7	114				
TRIP12	9320	broad.mit.edu	37	2	230668856	230668856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230668856A>G	ENST00000283943.5	-	18	2691	c.2513T>C	c.(2512-2514)tTa>tCa	p.L838S	TRIP12_ENST00000389044.4_Missense_Mutation_p.L886S|TRIP12_ENST00000389045.3_Missense_Mutation_p.L568S|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	838					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACACCAAATAATGTCTTAAT	0.388																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2512-2514)tTa>tCa		thyroid hormone receptor interactor 12							84.0	90.0	88.0					2																	230668856		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230668856A>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2513T>C	2.37:g.230668856A>G	ENSP00000283943:p.Leu838Ser					TRIP12_ENST00000389045.3_Missense_Mutation_p.L568S|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.L886S	p.L838S	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	18	2691	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	838					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.2513T>C	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558154	0.86231	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.39406	1.08;1.08;1.08	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.83118	2.625	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.72982	0.979;0.979;0.979	T	0.73212	-0.4054	10	0.87932	D	0	.	16.1822	0.81915	1.0:0.0:0.0:0.0	.	568;886;838	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	S	838;568;886	ENSP00000283943:L838S;ENSP00000373697:L568S;ENSP00000373696:L886S	ENSP00000283943:L838S	L	-	2	0	TRIP12	230377100	1.000000	0.71417	0.778000	0.31720	0.996000	0.88848	8.886000	0.92447	2.220000	0.72140	0.397000	0.26171	TTA		0.388	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	102	0	0	0	1	0	7	102				
RPL7	6129	broad.mit.edu	37	8	74203795	74203795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74203795C>T	ENST00000352983.2	-	5	815	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	RPL7_ENST00000396467.1_Missense_Mutation_p.R137Q|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396465.1_Missense_Mutation_p.R137Q|RPL7_ENST00000396466.1_Missense_Mutation_p.R137Q			P18124	RL7_HUMAN	ribosomal protein L7	177					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACCAAGAGATCGAGCAATCAA	0.388																																						ENST00000396467.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(409-411)cGa>cAa		ribosomal protein L7							77.0	70.0	72.0					8																	74203795		2202	4299	6501	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74203795C>T	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.530G>A	8.37:g.74203795C>T	ENSP00000339795:p.Arg177Gln					RPL7_ENST00000396466.1_Missense_Mutation_p.R137Q|RPL7_ENST00000352983.2_Missense_Mutation_p.R177Q|RPL7_ENST00000396465.1_Missense_Mutation_p.R137Q	p.R137Q	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		5	548	-	Breast(64;0.0954)		177					A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.410G>A	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858183	0.32791	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465	.	.	.	5.47	3.33	0.38152	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.375154	0.24662	N	0.036624	T	0.18173	0.0436	N	0.04355	-0.22	0.35080	D	0.763323	B	0.15473	0.013	B	0.06405	0.002	T	0.25710	-1.0124	9	0.02654	T	1	.	6.3019	0.21117	0.0:0.6187:0.0:0.3813	.	177	P18124	RL7_HUMAN	Q	137;177;137;137	.	ENSP00000339795:R177Q	R	-	2	0	RPL7	74366349	0.773000	0.28580	0.997000	0.53966	0.956000	0.61745	1.173000	0.31920	1.288000	0.44600	0.655000	0.94253	CGA		0.388	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		16	28	0	0	0	1	0	16	28				
ERLIN1	10613	broad.mit.edu	37	10	101912021	101912021	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101912021T>C	ENST00000421367.2	-	11	3621	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ERLIN1_ENST00000407654.3_Missense_Mutation_p.N305S	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	303					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CACGAACATGTTAGGGATGTT	0.468																																						ENST00000421367.2																			0											c.(913-915)aAc>aGc		ER lipid raft associated 1							126.0	123.0	124.0					10																	101912021		2203	4300	6503	SO:0001583	missense	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101912021T>C	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.914A>G	10.37:g.101912021T>C	ENSP00000410964:p.Asn305Ser					ERLIN1_ENST00000407654.3_Missense_Mutation_p.N305S	p.N305S	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	11	3621	-		Colorectal(252;0.234)	303					B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	37	c.914A>G	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	T	9.160	1.018566	0.19355	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410	T;T	0.63096	-0.02;-0.02	5.61	2.72	0.32119	.	0.405109	0.28371	N	0.015594	T	0.40839	0.1133	N	0.19112	0.55	0.31113	N	0.709737	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31833	-0.9929	10	0.19147	T	0.46	-9.4597	7.7573	0.28932	0.0:0.6633:0.0:0.3367	.	303;305	O75477;D3DR65	ERLN1_HUMAN;.	S	305;305;221	ENSP00000410964:N305S;ENSP00000384900:N305S	ENSP00000359438:N221S	N	-	2	0	ERLIN1	101902011	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.652000	0.24888	0.388000	0.25054	-0.366000	0.07423	AAC		0.468	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		7	74	0	0	0	1	0	7	74				
TANC2	26115	broad.mit.edu	37	17	61392000	61392000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61392000G>A	ENST00000424789.2	+	8	1193	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	AC037445.1_ENST00000581421.1_RNA|RP11-269G24.2_ENST00000580253.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A397T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	397					in utero embryonic development (GO:0001701)			p.A397T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAGACAGATCGCCTCAGACAG	0.473																																						ENST00000424789.2																			2	Substitution - Missense(2)	p.A397T(2)	endometrium(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1189-1191)Gcc>Acc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							163.0	167.0	166.0					17																	61392000		2040	4192	6232	SO:0001583	missense	26115						binding	g.chr17:61392000G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1189G>A	17.37:g.61392000G>A	ENSP00000387593:p.Ala397Thr					TANC2_ENST00000389520.4_Missense_Mutation_p.A397T|AC037445.1_ENST00000581421.1_RNA	p.A397T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			8	1193	+			397					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1189G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437402	0.62955	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.22336	1.96;1.96	5.44	5.44	0.79542	.	0.145397	0.45606	U	0.000347	T	0.17323	0.0416	L	0.37850	1.14	0.41089	D	0.985589	B;B	0.30455	0.28;0.204	B;B	0.23716	0.031;0.048	T	0.02526	-1.1146	10	0.54805	T	0.06	.	12.9276	0.58268	0.0742:0.0:0.9257:0.0	.	397;397	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	T	397	ENSP00000374171:A397T;ENSP00000387593:A397T	ENSP00000374171:A397T	A	+	1	0	TANC2	58745732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.713000	0.74686	2.712000	0.92718	0.650000	0.86243	GCC		0.473	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			36	76	0	0	0	1	0	36	76				
NUTM2G	441457	broad.mit.edu	37	9	99699526	99699526	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99699526A>C	ENST00000372322.3	+	5	1184	c.1163A>C	c.(1162-1164)gAg>gCg	p.E388A	NUTM2G_ENST00000354649.3_Missense_Mutation_p.E388A|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	388																	GACATCATGGAGGAGCTGCTG	0.637																																						ENST00000354649.3																			0											c.(1162-1164)gAg>gCg		NUT family member 2G							31.0	37.0	35.0					9																	99699526		1843	4076	5919	SO:0001583	missense	441457							g.chr9:99699526A>C		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1163A>C	9.37:g.99699526A>C	ENSP00000361397:p.Glu388Ala					NUTM2G_ENST00000372322.3_Missense_Mutation_p.E388A|HIATL2_ENST00000506067.1_Intron	p.E388A	NM_001045477.2	NP_001038942.1					5	1878	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.1163A>C	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	9.332	1.060706	0.19987	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.24908	1.83;2.62	1.33	1.33	0.21861	.	0.974765	0.08427	N	0.947434	T	0.37785	0.1016	L	0.48986	1.54	0.09310	N	0.999999	D	0.71674	0.998	D	0.65987	0.94	T	0.19647	-1.0299	10	0.42905	T	0.14	.	4.8596	0.13577	1.0:0.0:0.0:0.0	.	388	Q5VZR2-2	.	A	388;388;237;269	ENSP00000346670:E388A;ENSP00000361397:E388A	ENSP00000346670:E388A	E	+	2	0	FAM22G	98739347	0.785000	0.28726	0.261000	0.24466	0.107000	0.19398	1.074000	0.30703	0.897000	0.36392	0.388000	0.25769	GAG		0.637	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		5	71	0	0	0	1	0	5	71				
C6orf211	79624	broad.mit.edu	37	6	151779496	151779496	+	Missense_Mutation	SNP	C	C	A	rs560894715		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151779496C>A	ENST00000367294.3	+	3	440	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	61								p.L61I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGCTATCTCTCTCCTTTCTAA	0.358																																						ENST00000367294.3																			1	Substitution - Missense(1)	p.L61I(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(181-183)Ctc>Atc		chromosome 6 open reading frame 211							110.0	112.0	111.0					6																	151779496		2203	4299	6502	SO:0001583	missense	79624						protein binding	g.chr6:151779496C>A	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.181C>A	6.37:g.151779496C>A	ENSP00000356263:p.Leu61Ile					C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_5'UTR	p.L61I	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	3	440	+			61					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.181C>A	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478694	0.44044	.	.	ENSG00000146476	ENST00000367294	T	0.06933	3.24	5.85	4.97	0.65823	Domain of unknown function DUF89 (2);	0.118364	0.56097	D	0.000023	T	0.05135	0.0137	M	0.68317	2.08	0.80722	D	1	B	0.25235	0.121	B	0.32022	0.139	T	0.18808	-1.0325	10	0.38643	T	0.18	.	5.6062	0.17381	0.0:0.7407:0.0:0.2593	.	61	Q9H993	CF211_HUMAN	I	61	ENSP00000356263:L61I	ENSP00000356263:L61I	L	+	1	0	C6orf211	151821189	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.221000	0.42917	2.767000	0.95098	0.563000	0.77884	CTC		0.358	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		37	51	1	0	5.71845e-15	1	7.32261e-15	37	51				
SIMC1	375484	broad.mit.edu	37	5	175717816	175717816	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175717816C>A	ENST00000443967.1	+	4	1639	c.1232C>A	c.(1231-1233)cCt>cAt	p.P411H	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.P430H			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	411							SUMO polymer binding (GO:0032184)										CCTGCCAAACCTGGGTCTGCC	0.507																																						ENST00000443967.1																			0											c.(1231-1233)cCt>cAt		SUMO-interacting motifs containing 1							41.0	38.0	39.0					5																	175717816		2202	4280	6482	SO:0001583	missense	375484							g.chr5:175717816C>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1232C>A	5.37:g.175717816C>A	ENSP00000406571:p.Pro411His					SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.P430H|SIMC1_ENST00000430704.2_Intron	p.P411H							4	1639	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.1232C>A		.	.	.	.	.	.	.	.	.	.	C	6.745	0.506230	0.12883	.	.	ENSG00000170085	ENST00000443967;ENST00000429602	T;T	0.38887	1.94;1.11	4.7	3.82	0.43975	.	0.289219	0.25006	N	0.033871	T	0.61553	0.2356	.	.	.	0.09310	N	1	D;D	0.89917	0.963;1.0	P;D	0.70935	0.694;0.971	T	0.55885	-0.8070	9	0.72032	D	0.01	-2.5124	11.4899	0.50375	0.0:0.9056:0.0:0.0944	.	430;411	B4DRM7;Q8NDZ2	.;CE025_HUMAN	H	411;430	ENSP00000406571:P411H;ENSP00000410552:P430H	ENSP00000410552:P430H	P	+	2	0	C5orf25	175650422	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	1.390000	0.34464	0.603000	0.29913	-0.942000	0.02676	CCT		0.507	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		19	35	1	0	3.62473e-10	1	4.44982e-10	19	35				
EGFR	1956	broad.mit.edu	37	7	55238146	55238146	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55238146C>T	ENST00000275493.2	+	16	2057				EGFR_ENST00000455089.1_Intron|EGFR_ENST00000344576.2_Missense_Mutation_p.P676L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCTCTTCTGCCGTCAGAGTTT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000344576.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2026-2028)cCg>cTg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						131.0	104.0	113.0					7																	55238146		2203	4300	6503	SO:0001627	intron_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55238146C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1881-722C>T	7.37:g.55238146C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Intron	p.P676L	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2272	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		0					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2027C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	4.876	0.162798	0.09287	.	.	ENSG00000146648	ENST00000344576	T	0.80653	-1.4	2.98	-5.96	0.02234	.	.	.	.	.	T	0.55986	0.1955	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40869	-0.9540	9	0.87932	D	0	.	3.2416	0.06783	0.1944:0.4302:0.2553:0.12	.	676	P00533-3	.	L	676	ENSP00000345973:P676L	ENSP00000345973:P676L	P	+	2	0	EGFR	55205640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.899000	0.01600	-4.609000	0.00040	-1.008000	0.02478	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		15	56	0	0	0	1	0	15	56				
CTSB	1508	broad.mit.edu	37	8	11705621	11705621	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11705621T>C	ENST00000353047.6	-	6	740	c.487A>G	c.(487-489)Aca>Gca	p.T163A	CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.T163A|CTSB_ENST00000533455.1_Missense_Mutation_p.T163A|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000530640.2_Missense_Mutation_p.T163A|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000534510.1_Missense_Mutation_p.T163A|CTSB_ENST00000453527.2_Missense_Mutation_p.T163A|CTSB_ENST00000345125.3_Missense_Mutation_p.T163A|CTSB_ENST00000531089.1_Missense_Mutation_p.T163A	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	163					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTTTTCTTGTCCAGAAGTTC	0.488																																						ENST00000353047.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(487-489)Aca>Gca		cathepsin B							114.0	111.0	112.0					8																	11705621		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11705621T>C	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.487A>G	8.37:g.11705621T>C	ENSP00000345672:p.Thr163Ala					CTSB_ENST00000533455.1_Missense_Mutation_p.T163A|CTSB_ENST00000534510.1_Missense_Mutation_p.T163A|CTSB_ENST00000453527.2_Missense_Mutation_p.T163A|CTSB_ENST00000531089.1_Missense_Mutation_p.T163A|CTSB_ENST00000434271.1_Missense_Mutation_p.T163A|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.T163A|CTSB_ENST00000345125.3_Missense_Mutation_p.T163A	p.T163A	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	6	740	-	all_epithelial(15;0.205)		163					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.487A>G	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	T	9.539	1.112846	0.20795	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296	D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.86	4.86	0.63082	Peptidase C1A, papain C-terminal (2);	0.147130	0.64402	D	0.000009	T	0.64023	0.2561	N	0.05280	-0.08	0.80722	D	1	B;B;B;B;B	0.13594	0.008;0.0;0.001;0.004;0.006	B;B;B;B;B	0.15484	0.013;0.003;0.002;0.006;0.006	T	0.59284	-0.7483	10	0.14656	T	0.56	.	11.061	0.47946	0.0:0.0:0.1548:0.8452	.	100;163;69;163;100	B3KUJ8;A8K2H4;B4DMY4;P07858;F5H2P9	.;.;.;CATB_HUMAN;.	A	163;100;163;163;163;163;163;163;163;69;163;163;163	ENSP00000415889:T163A;ENSP00000345672:T163A;ENSP00000435105:T163A;ENSP00000433215:T163A;ENSP00000409917:T163A;ENSP00000342070:T163A;ENSP00000432244:T163A;ENSP00000434217:T163A;ENSP00000436159:T163A;ENSP00000433995:T163A;ENSP00000435074:T163A	ENSP00000342070:T163A	T	-	1	0	CTSB	11743030	1.000000	0.71417	0.991000	0.47740	0.693000	0.40251	2.364000	0.44187	1.822000	0.53115	0.459000	0.35465	ACA		0.488	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		41	32	0	0	0	1	0	41	32				
PCDHA9	9752	broad.mit.edu	37	5	140242918	140242918	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140242918C>T	ENST00000532602.1	+	1	3427				PCDHA7_ENST00000525929.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.V20M|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGTGCTCACGTTGCTGCTG	0.642																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(58-60)Gtg>Atg																																						SO:0001627	intron_variant	0							g.chr5:140242918C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12444C>T	5.37:g.140242918C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.V20M							1	306	-								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.58G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620671	0.14193	.	.	ENSG00000249034	ENST00000502505	.	.	.	3.99	-0.237	0.13061	.	.	.	.	.	T	0.22551	0.0544	.	.	.	0.09310	N	1	P	0.38745	0.645	B	0.28916	0.096	T	0.10359	-1.0633	7	0.87932	D	0	.	7.9041	0.29752	0.0:0.5696:0.2638:0.1667	.	20	Q8NB83	.	M	20	.	ENSP00000424817:V20M	V	-	1	0	AC005609.17	140223102	0.000000	0.05858	0.924000	0.36721	0.012000	0.07955	-0.099000	0.11007	0.042000	0.15717	-0.802000	0.03209	GTG		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		14	15	0	0	0	1	0	14	15				
ADAMTSL3	57188	broad.mit.edu	37	15	84706505	84706505	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84706505T>G	ENST00000286744.5	+	30	5247	c.5023T>G	c.(5023-5025)Tgt>Ggt	p.C1675G	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1675	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTAATTTGTGTTCTCTAGA	0.383																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(5023-5025)Tgt>Ggt		ADAMTS-like 3							113.0	108.0	109.0					15																	84706505		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84706505T>G	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.5023T>G	15.37:g.84706505T>G	ENSP00000286744:p.Cys1675Gly					ADAMTSL3_ENST00000567476.1_Intron	p.C1675G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		30	5247	+			1675			PLAC.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.5023T>G	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854051	0.71719	.	.	ENSG00000156218	ENST00000286744	D	0.95690	-3.78	5.06	5.06	0.68205	PLAC (2);	0.615386	0.14646	N	0.306874	D	0.97420	0.9156	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97255	0.9900	10	0.87932	D	0	.	14.0273	0.64592	0.0:0.0:0.0:1.0	.	1675	P82987	ATL3_HUMAN	G	1675	ENSP00000286744:C1675G	ENSP00000286744:C1675G	C	+	1	0	ADAMTSL3	82497509	1.000000	0.71417	0.987000	0.45799	0.827000	0.46813	4.647000	0.61418	1.901000	0.55032	0.482000	0.46254	TGT		0.383	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		9	108	0	0	0	1	0	9	108				
ADD2	119	broad.mit.edu	37	2	70890837	70890837	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70890837G>A	ENST00000264436.4	-	16	2345	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.A634V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	634					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGTGGTGGCGGCTTTGCTTGT	0.522																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1900-1902)gCc>gTc		adducin 2 (beta)							70.0	68.0	69.0					2																	70890837		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70890837G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1901C>T	2.37:g.70890837G>A	ENSP00000264436:p.Ala634Val					ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.A634V	p.A634V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			16	2345	-			634					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1901C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	0.105	-1.146603	0.01714	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.05649	3.41;3.41	0.225	-0.451	0.12214	.	1.088790	0.06900	N	0.805759	T	0.06005	0.0156	L	0.43152	1.355	0.39223	D	0.96353	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.27365	-1.0076	9	0.22706	T	0.39	-3.2563	.	.	.	.	634;634	Q05DK5;P35612	.;ADDB_HUMAN	V	634;634;385	ENSP00000264436:A634V;ENSP00000384677:A634V	ENSP00000264436:A634V	A	-	2	0	ADD2	70744345	0.009000	0.17119	0.458000	0.27068	0.475000	0.33008	-0.600000	0.05693	-0.849000	0.04158	-0.856000	0.03024	GCC		0.522	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		21	28	0	0	0	1	0	21	28				
C11orf24	53838	broad.mit.edu	37	11	68029758	68029758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68029758C>T	ENST00000304271.6	-	4	1107	c.705G>A	c.(703-705)aaG>aaA	p.K235K	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'Flank	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	235	Pro-rich.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGGGCATGTGCTTGGAAGGAC	0.582																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(703-705)aaG>aaA		chromosome 11 open reading frame 24							113.0	109.0	110.0					11																	68029758		2200	4294	6494	SO:0001819	synonymous_variant	53838					integral to membrane		g.chr11:68029758C>T	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.705G>A	11.37:g.68029758C>T						C11orf24_ENST00000533310.1_Intron	p.K235K	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	1107	-			235			Pro-rich.		Q9H2K4	Silent	SNP	ENST00000304271.6	37	c.705G>A	CCDS8180.1																																																																																				0.582	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		31	75	0	0	0	1	0	31	75				
CUL7	9820	broad.mit.edu	37	6	43011309	43011309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43011309C>T	ENST00000265348.3	-	17	3317	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.A1162T			Q14999	CUL7_HUMAN	cullin 7	1078					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGAAGACAGCTTCCTGACAC	0.607																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3484-3486)Gct>Act		cullin 7							22.0	22.0	22.0					6																	43011309		2202	4300	6502	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43011309C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3232G>A	6.37:g.43011309C>T	ENSP00000265348:p.Ala1078Thr					CUL7_ENST00000265348.3_Missense_Mutation_p.A1078T	p.A1162T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		17	3570	-			1078					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3484G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403542	0.42613	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79845	-1.31;-1.31	4.92	3.1	0.35709	.	0.902150	0.09644	N	0.774548	T	0.62527	0.2435	L	0.51422	1.61	0.21184	N	0.999768	B;B;B;B	0.32968	0.012;0.015;0.256;0.392	B;B;B;B	0.37989	0.007;0.012;0.262;0.262	T	0.56938	-0.7896	10	0.39692	T	0.17	-9.0584	6.8482	0.24000	0.0:0.6241:0.1493:0.2266	.	1162;1078;1162;1078	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	T	1078;1162	ENSP00000265348:A1078T;ENSP00000438788:A1162T	ENSP00000265348:A1078T	A	-	1	0	CUL7	43119287	0.051000	0.20477	0.975000	0.42487	0.318000	0.28184	0.409000	0.21082	1.206000	0.43276	0.609000	0.83330	GCT		0.607	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		5	12	0	0	0	1	0	5	12				
DOCK7	85440	broad.mit.edu	37	1	63119776	63119776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63119776G>A	ENST00000340370.5	-	3	216	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	DOCK7_ENST00000404627.2_Missense_Mutation_p.H67Y|DOCK7_ENST00000251157.5_Missense_Mutation_p.H67Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	67					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCAAAGGATGAGTAATGAGG	0.428																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(199-201)Cat>Tat		dedicator of cytokinesis 7							65.0	64.0	64.0					1																	63119776		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63119776G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.199C>T	1.37:g.63119776G>A	ENSP00000340742:p.His67Tyr					DOCK7_ENST00000340370.5_Missense_Mutation_p.H67Y|DOCK7_ENST00000404627.2_Missense_Mutation_p.H67Y	p.H67Y	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			3	232	-			67					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.199C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004879	0.74932	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.47177	0.85;0.85;0.85	5.16	5.16	0.70880	.	0.099543	0.64402	D	0.000002	T	0.51058	0.1652	M	0.63428	1.95	0.80722	D	1	B;P;P	0.46952	0.287;0.887;0.734	B;P;P	0.51582	0.091;0.674;0.457	T	0.51426	-0.8707	10	0.51188	T	0.08	.	18.8182	0.92085	0.0:0.0:1.0:0.0	.	67;67;67	Q96NI0;Q96N67-2;Q96N67-5	.;.;.	Y	67	ENSP00000251157:H67Y;ENSP00000340742:H67Y;ENSP00000384446:H67Y	ENSP00000251157:H67Y	H	-	1	0	DOCK7	62892364	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.179000	0.94861	2.677000	0.91161	0.655000	0.94253	CAT		0.428	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		20	27	0	0	0	1	0	20	27				
KMT2D	8085	broad.mit.edu	37	12	49437698	49437698	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49437698C>T	ENST00000301067.7	-	22	5271	c.5272G>A	c.(5272-5274)Ggg>Agg	p.G1758R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1758					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTCTTGCGCCCTCGCCGCTGT	0.587											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301067.7																			0											c.(5272-5274)Ggg>Agg		lysine (K)-specific methyltransferase 2D							174.0	183.0	180.0					12																	49437698		2152	4245	6397	SO:0001583	missense	8085							g.chr12:49437698C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5272G>A	12.37:g.49437698C>T	ENSP00000301067:p.Gly1758Arg		OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.G1758R	NM_003482.3	NP_003473.3					22	5271	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.5272G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650135	0.47362	.	.	ENSG00000167548	ENST00000301067	T	0.77877	-1.13	4.63	4.63	0.57726	.	.	.	.	.	T	0.61874	0.2382	N	0.05078	-0.115	0.40361	D	0.979244	B	0.26744	0.158	B	0.25291	0.059	T	0.65709	-0.6102	9	0.87932	D	0	.	16.613	0.84899	0.0:1.0:0.0:0.0	.	1758	O14686	MLL2_HUMAN	R	1758	ENSP00000301067:G1758R	ENSP00000301067:G1758R	G	-	1	0	MLL2	47723965	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.885000	0.63142	2.276000	0.75962	0.313000	0.20887	GGG		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			41	48	0	0	0	1	0	41	48				
ARHGEF2	9181	broad.mit.edu	37	1	155932403	155932403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932403C>T	ENST00000361247.4	-	9	1181	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R333H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R333H|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R362H|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R406H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R360H|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	361	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R333H(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTGGAAGCGTTTGTCTCG	0.577																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			1	Substitution - Missense(1)	p.R333H(1)	endometrium(1)	breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(997-999)cGc>cAc		Rho/Rac guanine nucleotide exchange factor (GEF) 2							93.0	94.0	94.0					1																	155932403		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155932403C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1082G>A	1.37:g.155932403C>T	ENSP00000354837:p.Arg361His					ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R333H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R360H|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R362H|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R361H	p.R333H			Q92974	ARHG2_HUMAN			13	1468	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		361			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.998G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473780	0.84640	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.14	5.14	0.70334	Dbl homology (DH) domain (5);	0.000000	0.45606	D	0.000354	T	0.67627	0.2913	M	0.63843	1.955	0.36497	D	0.868791	D;D;D;D	0.89917	1.0;0.984;0.971;0.996	D;P;P;P	0.71414	0.973;0.903;0.839;0.843	T	0.72074	-0.4400	10	0.87932	D	0	-22.5085	9.7951	0.40731	0.0:0.9084:0.0:0.0916	.	406;405;361;360	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	H	333;361;362;333;406;334;360	ENSP00000315325:R333H;ENSP00000354837:R361H;ENSP00000357298:R362H;ENSP00000357299:R333H;ENSP00000314787:R360H	ENSP00000314787:R360H	R	-	2	0	ARHGEF2	154199027	0.279000	0.24239	1.000000	0.80357	0.965000	0.64279	2.208000	0.42797	2.837000	0.97791	0.655000	0.94253	CGC		0.577	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		40	54	0	0	0	1	0	40	54				
APC	324	broad.mit.edu	37	5	112173300	112173300	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112173300A>C	ENST00000457016.1	+	16	2389	c.2009A>C	c.(2008-2010)aAa>aCa	p.K670T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.K670T|APC_ENST00000508376.2_Missense_Mutation_p.K670T			P25054	APC_HUMAN	adenomatous polyposis coli	670	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAACACTTAAAATCTCATAGT	0.368		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(2008-2010)aAa>aCa		adenomatous polyposis coli							72.0	74.0	74.0					5																	112173300		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112173300A>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2009A>C	5.37:g.112173300A>C	ENSP00000413133:p.Lys670Thr	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.K670T|APC_ENST00000508376.2_Missense_Mutation_p.K670T	p.K670T			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	2389	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	670			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.2009A>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354627	0.41700	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.99	5.99	0.97316	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	L	0.54323	1.7	0.80722	D	1	B;B	0.29552	0.248;0.248	P;P	0.45506	0.483;0.483	T	0.71803	-0.4482	10	0.44086	T	0.13	-27.4247	16.4943	0.84223	1.0:0.0:0.0:0.0	.	672;670	Q4LE70;P25054	.;APC_HUMAN	T	670;652;670;670;670	ENSP00000413133:K670T;ENSP00000423224:K652T;ENSP00000257430:K670T;ENSP00000427089:K670T;ENSP00000423828:K670T	ENSP00000257430:K670T	K	+	2	0	APC	112201199	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.161000	0.77505	2.291000	0.77112	0.533000	0.62120	AAA		0.368	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		20	43	0	0	0	1	0	20	43				
CEP120	153241	broad.mit.edu	37	5	122718703	122718703	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122718703T>C	ENST00000306467.5	-	12	2141	c.1837A>G	c.(1837-1839)Att>Gtt	p.I613V	CEP120_ENST00000306481.6_Missense_Mutation_p.I587V|CEP120_ENST00000328236.5_Missense_Mutation_p.I613V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	613					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAGATAAAAATCTCACGCATT	0.279																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1837-1839)Att>Gtt		centrosomal protein 120kDa							44.0	46.0	45.0					5																	122718703		2201	4294	6495	SO:0001583	missense	153241					centrosome		g.chr5:122718703T>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1837A>G	5.37:g.122718703T>C	ENSP00000303058:p.Ile613Val					CEP120_ENST00000328236.5_Missense_Mutation_p.I613V|CEP120_ENST00000306481.6_Missense_Mutation_p.I587V	p.I613V			Q8N960	CE120_HUMAN			12	2141	-			613					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1837A>G	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	T	8.474	0.858324	0.17178	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.71	-0.768	0.11013	.	0.271875	0.36303	N	0.002666	T	0.17916	0.0430	N	0.10685	0.025	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26326	-1.0106	10	0.07325	T	0.83	-2.8134	12.1499	0.54044	0.0:0.5786:0.0:0.4214	.	613	Q8N960	CE120_HUMAN	V	613;613;587;587	ENSP00000303058:I613V;ENSP00000327504:I613V;ENSP00000307419:I587V;ENSP00000421620:I587V	ENSP00000303058:I613V	I	-	1	0	CEP120	122746602	0.992000	0.36948	0.982000	0.44146	0.970000	0.65996	0.485000	0.22324	-0.341000	0.08376	0.528000	0.53228	ATT		0.279	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		15	21	0	0	0	1	0	15	21				
AP3M1	26985	broad.mit.edu	37	10	75896419	75896419	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896419A>G	ENST00000355264.4	-	3	727	c.416T>C	c.(415-417)aTt>aCt	p.I139T	AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000372745.1_Missense_Mutation_p.I139T	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	139					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGAGCGTAGAATTGTTGGTGG	0.338																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(415-417)aTt>aCt		adaptor-related protein complex 3, mu 1 subunit							148.0	144.0	145.0					10																	75896419		2202	4300	6502	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75896419A>G	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.416T>C	10.37:g.75896419A>G	ENSP00000347408:p.Ile139Thr					AP3M1_ENST00000372745.1_Missense_Mutation_p.I139T	p.I139T	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			3	727	-	Prostate(51;0.0112)		139					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.416T>C	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454041	0.63290	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.78003	-1.14;-1.14	5.94	5.94	0.96194	Longin-like (1);	0.105732	0.64402	N	0.000005	T	0.77398	0.4124	M	0.68952	2.095	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	T	0.74472	-0.3654	10	0.46703	T	0.11	-10.7185	16.3947	0.83586	1.0:0.0:0.0:0.0	.	139	Q9Y2T2	AP3M1_HUMAN	T	139	ENSP00000347408:I139T;ENSP00000361831:I139T	ENSP00000347408:I139T	I	-	2	0	AP3M1	75566425	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	8.962000	0.93254	2.272000	0.75746	0.459000	0.35465	ATT		0.338	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			4	53	0	0	0	1	0	4	53				
THBS4	7060	broad.mit.edu	37	5	79357584	79357584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79357584G>A	ENST00000350881.2	+	8	1244	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	THBS4_ENST00000511733.1_Missense_Mutation_p.A261T|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	352	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGATGTGACGCCTGCCCAGT	0.498																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1054-1056)Gcc>Acc		thrombospondin 4							114.0	108.0	110.0					5																	79357584		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79357584G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1054G>A	5.37:g.79357584G>A	ENSP00000339730:p.Ala352Thr					CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A261T	p.A352T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	8	1244	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	352			EGF-like 2; calcium-binding (Potential).		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.1054G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554042	0.45487	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.29397	1.57;1.57	5.52	2.53	0.30540	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.208574	0.50627	D	0.000104	T	0.19167	0.0460	L	0.35854	1.095	0.23577	N	0.997374	B	0.14012	0.009	B	0.10450	0.005	T	0.13176	-1.0519	10	0.25751	T	0.34	-24.7897	4.885	0.13699	0.2146:0.0:0.4987:0.2867	.	352	P35443	TSP4_HUMAN	T	352;261	ENSP00000339730:A352T;ENSP00000422298:A261T	ENSP00000339730:A352T	A	+	1	0	THBS4	79393340	0.000000	0.05858	0.769000	0.31535	0.989000	0.77384	0.121000	0.15667	0.875000	0.35847	0.563000	0.77884	GCC		0.498	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			5	48	0	0	0	1	0	5	48				
CYP4F12	66002	broad.mit.edu	37	19	15791247	15791247	+	Missense_Mutation	SNP	G	G	A	rs377107512		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15791247G>A	ENST00000550308.1	+	5	823	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R148H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	148					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AGCCGCCACCGTCGGATGCTG	0.547																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(442-444)cGt>cAt		cytochrome P450, family 4, subfamily F, polypeptide 12		G	HIS/ARG	0,4406		0,0,2203	30.0	34.0	33.0		443	1.9	0.0	19		33	1,8597		0,1,4298	no	missense	CYP4F12	NM_023944.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	148/525	15791247	1,13003	2203	4299	6502	SO:0001583	missense	66002							g.chr19:15791247G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.443G>A	19.37:g.15791247G>A	ENSP00000448998:p.Arg148His					CYP4F12_ENST00000324632.9_Missense_Mutation_p.R148H	p.R148H	NM_023944.3	NP_076433.3					5	823	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.443G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	12.16	1.854639	0.32791	0.0	1.16E-4	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.92647	-3.08;-3.08	2.92	1.86	0.25419	.	0.000000	0.64402	U	0.000005	D	0.96728	0.8932	H	0.97051	3.93	0.50813	D	0.999898	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.978	D	0.95647	0.8703	10	0.87932	D	0	.	9.132	0.36850	0.0:0.0:0.7797:0.2203	.	148;148	B4E270;Q9HCS2	.;CP4FC_HUMAN	H	148	ENSP00000448998:R148H;ENSP00000321821:R148H	ENSP00000321821:R148H	R	+	2	0	CYP4F12	15652247	1.000000	0.71417	0.047000	0.18901	0.014000	0.08584	5.368000	0.66133	0.560000	0.29169	-0.326000	0.08463	CGT		0.547	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			5	14	0	0	0	1	0	5	14				
LRRC8C	84230	broad.mit.edu	37	1	90179921	90179921	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90179921C>A	ENST00000370454.4	+	3	2047	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	598					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGAGCTGGTCCACTGTGACCT	0.463																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1792-1794)Cac>Aac		leucine rich repeat containing 8 family, member C							63.0	59.0	60.0					1																	90179921		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179921C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1792C>A	1.37:g.90179921C>A	ENSP00000359483:p.His598Asn					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.H598N	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	2047	+		all_lung(203;0.126)	598					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.1792C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	1.525	-0.546004	0.04024	.	.	ENSG00000171488	ENST00000370454	T	0.54279	0.58	5.82	5.82	0.92795	.	0.133715	0.64402	D	0.000001	T	0.16981	0.0408	N	0.05534	-0.03	0.53688	D	0.99997	B	0.02656	0.0	B	0.06405	0.002	T	0.32188	-0.9916	10	0.02654	T	1	.	20.5436	0.99274	0.0:1.0:0.0:0.0	.	598	Q8TDW0	LRC8C_HUMAN	N	598	ENSP00000359483:H598N	ENSP00000359483:H598N	H	+	1	0	LRRC8C	89952509	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.047000	0.71038	2.932000	0.99384	0.644000	0.83932	CAC		0.463	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		21	63	1	0	4.35082e-09	1	5.25983e-09	21	63				
LRRC49	54839	broad.mit.edu	37	15	71341896	71341896	+	Missense_Mutation	SNP	G	G	A	rs546274176		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71341896G>A	ENST00000260382.5	+	16	2266	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	LRRC49_ENST00000443425.2_Missense_Mutation_p.R625H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.R659H|LRRC49_ENST00000560158.2_Missense_Mutation_p.R357H|LRRC49_ENST00000560691.1_Missense_Mutation_p.R375H|LRRC49_ENST00000560369.1_Missense_Mutation_p.R674H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	669						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATAGAAATTCGCAATAAAAAT	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		16988	0.0		0.0	False		,,,				2504	0.001					ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(2005-2007)cGc>cAc		leucine rich repeat containing 49							98.0	105.0	102.0					15																	71341896		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71341896G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.2006G>A	15.37:g.71341896G>A	ENSP00000260382:p.Arg669His					LRRC49_ENST00000560158.2_Missense_Mutation_p.R357H|LRRC49_ENST00000560691.1_Missense_Mutation_p.R375H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.R625H|LRRC49_ENST00000560369.1_Missense_Mutation_p.R674H|LRRC49_ENST00000544974.2_Missense_Mutation_p.R659H	p.R669H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			16	2266	+			669					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.2006G>A	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	g	13.08	2.130356	0.37630	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.35605	1.3;1.3;1.3	5.33	3.47	0.39725	.	0.186957	0.44902	D	0.000404	T	0.30541	0.0768	L	0.51422	1.61	0.38611	D	0.9509	B;B;B;B;B	0.24186	0.011;0.099;0.042;0.025;0.007	B;B;B;B;B	0.15870	0.006;0.014;0.014;0.004;0.007	T	0.16276	-1.0408	10	0.52906	T	0.07	-0.6441	9.7766	0.40623	0.1668:0.0:0.8331:0.0	.	674;641;625;669;659	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	H	659;669;625;641	ENSP00000439600:R659H;ENSP00000260382:R669H;ENSP00000414065:R625H	ENSP00000260382:R669H	R	+	2	0	LRRC49	69128950	1.000000	0.71417	0.342000	0.25602	0.957000	0.61999	4.786000	0.62425	0.827000	0.34685	0.655000	0.94253	CGC		0.368	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		42	66	0	0	0	1	0	42	66				
HIST1H2BG	8339	broad.mit.edu	37	6	26216597	26216597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26216597G>A	ENST00000244601.3	-	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	92					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S92C(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GATCTCCCTGGAGGTAATGGT	0.582																																						ENST00000244601.3																			1	Substitution - Missense(1)	p.S92C(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(274-276)tCc>tTc		histone cluster 1, H2bg							98.0	98.0	98.0					6																	26216597		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216597G>A	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.275C>T	6.37:g.26216597G>A	ENSP00000244601:p.Ser92Phe						p.S92F	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	275	-		all_hematologic(11;0.196)	92					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.275C>T	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	15.74	2.921859	0.52653	.	.	ENSG00000187990	ENST00000244601	T	0.46451	0.87	3.89	3.89	0.44902	.	0.000000	0.33916	U	0.004436	T	0.49966	0.1588	.	.	.	0.42671	D	0.993517	.	.	.	.	.	.	T	0.56763	-0.7925	7	0.66056	D	0.02	.	15.3699	0.74554	0.0:0.0:1.0:0.0	.	.	.	.	F	92	ENSP00000244601:S92F	ENSP00000244601:S92F	S	-	2	0	HIST1H2BG	26324576	1.000000	0.71417	0.669000	0.29828	0.387000	0.30353	6.417000	0.73337	2.172000	0.68678	0.561000	0.74099	TCC		0.582	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		7	74	0	0	0	1	0	7	74				
OR1E2	8388	broad.mit.edu	37	17	3336707	3336707	+	Silent	SNP	G	G	A	rs541987874		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3336707G>A	ENST00000248384.1	-	1	428	c.429C>T	c.(427-429)gcC>gcT	p.A143A		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	143					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						GGCTCATGATGGCGGTGTAGT	0.567																																						ENST00000248384.1																			0				endometrium(3)|large_intestine(3)|lung(3)	9						c.(427-429)gcC>gcT		olfactory receptor, family 1, subfamily E, member 2							86.0	74.0	78.0					17																	3336707		2203	4300	6503	SO:0001819	synonymous_variant	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336707G>A	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.429C>T	17.37:g.3336707G>A							p.A143A	NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN			1	428	-			143					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Silent	SNP	ENST00000248384.1	37	c.429C>T	CCDS11026.1																																																																																				0.567	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			3	39	0	0	0	1	0	3	39				
CBFA2T2	9139	broad.mit.edu	37	20	32232249	32232249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32232249C>T	ENST00000346541.3	+	12	2149	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.R509W|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R509W|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R538W|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R548W|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R529W|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R86W	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	538					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGACTGGGAGCGGCACCACCG	0.652																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1612-1614)Cgg>Tgg		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							67.0	65.0	66.0					20																	32232249		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232249C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1612C>T	20.37:g.32232249C>T	ENSP00000262653:p.Arg538Trp					CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R548W|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R86W|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R509W|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R538W|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.R529W	p.R538W	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			12	2149	+			538					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1612C>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812460	0.90707	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.47869	0.83;0.84;0.83;0.84;1.42	5.88	4.89	0.63831	Zinc finger, MYND-type (3);	0.146522	0.64402	D	0.000015	T	0.61211	0.2329	L	0.55213	1.73	0.49213	D	0.999768	D;D	0.89917	1.0;0.999	D;D	0.68353	0.957;0.928	T	0.62627	-0.6814	10	0.87932	D	0	-19.6523	12.301	0.54874	0.3241:0.6759:0.0:0.0	.	538;529	O43439;F8W6D7	MTG8R_HUMAN;.	W	312;538;529;538;509;548;86	ENSP00000364428:R538W;ENSP00000345810:R529W;ENSP00000262653:R538W;ENSP00000380902:R509W;ENSP00000352622:R548W	ENSP00000345810:R529W	R	+	1	2	CBFA2T2	31695910	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.697000	0.37784	2.782000	0.95742	0.655000	0.94253	CGG		0.652	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		31	38	0	0	0	1	0	31	38				
FANCG	2189	broad.mit.edu	37	9	35076575	35076575	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35076575C>T	ENST00000378643.3	-	8	1421	c.930G>A	c.(928-930)ttG>ttA	p.L310L	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	310					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.L310F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGGGACATTCAAGGCCTAAA	0.443			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Mis, N, F, S"""	"""Fanconi anemia, complementation group G"""			L		"""AML, leukemia"""			1	Substitution - Missense(1)	p.L310F(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(928-930)ttG>ttA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							83.0	79.0	80.0					9																	35076575		2203	4300	6503	SO:0001819	synonymous_variant	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35076575C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.930G>A	9.37:g.35076575C>T							p.L310L	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1421	-			310						Silent	SNP	ENST00000378643.3	37	c.930G>A	CCDS6574.1																																																																																				0.443	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		27	50	0	0	0	1	0	27	50				
ABHD12B	145447	broad.mit.edu	37	14	51347289	51347289	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51347289G>T	ENST00000337334.2	+	4	470	c.455G>T	c.(454-456)aGg>aTg	p.R152M	ABHD12B_ENST00000353130.1_Splice_Site_p.R75M|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Splice_Site_p.R45M|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	152							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GCAGAACACAGGTCAGTGGCT	0.483																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.e4+1		abhydrolase domain containing 12B							143.0	130.0	135.0					14																	51347289		2203	4300	6503	SO:0001630	splice_region_variant	145447						hydrolase activity	g.chr14:51347289G>T	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.455+1G>T	14.37:g.51347289G>T						PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Splice_Site_p.R45_splice|ABHD12B_ENST00000353130.1_Splice_Site_p.R75_splice|ABHD12B_ENST00000554241.1_3'UTR	p.R152_splice	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			4	470	+	all_epithelial(31;0.00481)|Breast(41;0.148)		152					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Splice_Site	SNP	ENST00000337334.2	37	c.455_splice	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346552	0.82022	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.49432	0.78;0.78;0.78	5.64	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.58814	-0.7570	10	0.35671	T	0.21	-1.9935	11.1325	0.48356	0.0853:0.0:0.9147:0.0	.	152;75	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	M	75;152;45	ENSP00000343951:R75M;ENSP00000336693:R152M;ENSP00000379101:R45M	ENSP00000336693:R152M	R	+	2	0	ABHD12B	50417039	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.001000	0.76297	1.537000	0.49254	0.655000	0.94253	AGG		0.483	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1		Missense_Mutation	9	125	1	0	4.68919e-08	1	5.58064e-08	9	125				
VPS13C	54832	broad.mit.edu	37	15	62320617	62320617	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62320617T>G	ENST00000261517.5	-	6	461	c.388A>C	c.(388-390)Aca>Cca	p.T130P	VPS13C_ENST00000395896.4_Missense_Mutation_p.T130P|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTGAATGTGTGCCTGCATCC	0.333																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(388-390)Aca>Cca		vacuolar protein sorting 13 homolog C (S. cerevisiae)							81.0	76.0	77.0					15																	62320617		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62320617T>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.388A>C	15.37:g.62320617T>G	ENSP00000261517:p.Thr130Pro					VPS13C_ENST00000395896.4_Missense_Mutation_p.T130P|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron	p.T130P	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			6	461	-			130						Missense_Mutation	SNP	ENST00000261517.5	37	c.388A>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.149875	0.37923	.	.	ENSG00000129003	ENST00000261517;ENST00000395896;ENST00000395898	T;T	0.45668	0.89;1.06	5.47	1.51	0.23008	.	0.161001	0.41294	D	0.000902	T	0.20373	0.0490	N	0.08118	0	0.80722	D	1	B;B	0.27068	0.039;0.167	B;B	0.23018	0.043;0.029	T	0.04678	-1.0934	10	0.44086	T	0.13	.	9.2393	0.37486	0.0:0.693:0.0:0.307	.	130;130	Q709C8-2;Q709C8	.;VP13C_HUMAN	P	130	ENSP00000261517:T130P;ENSP00000379233:T130P	ENSP00000261517:T130P	T	-	1	0	VPS13C	60107909	0.219000	0.23619	0.997000	0.53966	0.987000	0.75469	0.196000	0.17176	0.090000	0.17273	-0.248000	0.11899	ACA		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		21	48	0	0	0	1	0	21	48				
CNR2	1269	broad.mit.edu	37	1	24201629	24201629	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201629A>C	ENST00000374472.4	-	2	640	c.479T>G	c.(478-480)cTc>cGc	p.L160R	CNR2_ENST00000536471.1_Missense_Mutation_p.L160R	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	160					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TAGTGCTGAGAGGACCCACAT	0.587																																						ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(478-480)cTc>cGc		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						76.0	73.0	74.0					1																	24201629		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201629A>C	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.479T>G	1.37:g.24201629A>C	ENSP00000363596:p.Leu160Arg					CNR2_ENST00000374472.4_Missense_Mutation_p.L160R	p.L160R			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	737	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	160					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.479T>G	CCDS245.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665531	0.47677	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.75938	-0.98;-0.98	5.78	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.624373	0.16984	N	0.191580	T	0.81380	0.4810	M	0.80616	2.505	0.33772	D	0.623131	P	0.44659	0.84	P	0.54026	0.74	D	0.86640	0.1891	10	0.87932	D	0	.	7.0272	0.24946	0.8349:0.0:0.1651:0.0	.	160	P34972	CNR2_HUMAN	R	160	ENSP00000363596:L160R;ENSP00000442830:L160R	ENSP00000363596:L160R	L	-	2	0	CNR2	24074216	0.659000	0.27411	0.958000	0.39756	0.314000	0.28054	1.558000	0.36309	2.199000	0.70637	0.454000	0.30748	CTC		0.587	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		11	40	0	0	0	1	0	11	40				
DPYSL4	10570	broad.mit.edu	37	10	134012358	134012358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134012358G>A	ENST00000338492.4	+	8	858	c.694G>A	c.(694-696)Gag>Aag	p.E232K	DPYSL4_ENST00000368627.1_Missense_Mutation_p.E132K|DPYSL4_ENST00000368629.1_Missense_Mutation_p.E132K	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	232					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCCCCAGGTGGAGGCTGAGGC	0.657																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(694-696)Gag>Aag		dihydropyrimidinase-like 4							63.0	56.0	58.0					10																	134012358		2202	4300	6502	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134012358G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.694G>A	10.37:g.134012358G>A	ENSP00000339850:p.Glu232Lys					DPYSL4_ENST00000368627.1_Missense_Mutation_p.E132K|DPYSL4_ENST00000368629.1_Missense_Mutation_p.E132K	p.E232K	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	8	858	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	232					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.694G>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536815	0.65085	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.96200	-3.94;-3.94;-3.94	3.55	3.55	0.40652	Amidohydrolase 1 (1);	0.060388	0.64402	D	0.000005	D	0.97476	0.9174	M	0.91612	3.225	0.80722	D	1	P	0.51653	0.947	P	0.55713	0.782	D	0.98609	1.0662	10	0.72032	D	0.01	-21.2703	15.7562	0.78030	0.0:0.0:1.0:0.0	.	232	O14531	DPYL4_HUMAN	K	232;132;132	ENSP00000339850:E232K;ENSP00000357618:E132K;ENSP00000357616:E132K	ENSP00000339850:E232K	E	+	1	0	DPYSL4	133862348	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.263000	0.78421	2.004000	0.58718	0.555000	0.69702	GAG		0.657	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			8	18	0	0	0	1	0	8	18				
GPR34	2857	broad.mit.edu	37	X	41554926	41554926	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41554926A>G	ENST00000378142.4	+	3	324	c.40A>G	c.(40-42)Agc>Ggc	p.S14G	CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.S14G|CASK_ENST00000442742.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	14					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACTTCAGTCAGCAGCTGGCC	0.428																																						ENST00000378142.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(40-42)Agc>Ggc		G protein-coupled receptor 34							113.0	91.0	98.0					X																	41554926		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41554926A>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.40A>G	X.37:g.41554926A>G	ENSP00000367384:p.Ser14Gly					CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.S14G|CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron	p.S14G	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN			3	324	+			14					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.40A>G	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.315076	0.01331	.	.	ENSG00000171659	ENST00000378142;ENST00000378138	T;T	0.72835	-0.69;-0.69	5.82	-5.44	0.02624	.	1.050660	0.07434	N	0.896236	T	0.38108	0.1028	N	0.10874	0.06	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	10	0.12766	T	0.61	0.67	0.0449	0.00010	0.3006:0.1892:0.2263:0.2839	.	14	Q9UPC5	GPR34_HUMAN	G	14	ENSP00000367384:S14G;ENSP00000367378:S14G	ENSP00000367378:S14G	S	+	1	0	GPR34	41439870	0.000000	0.05858	0.001000	0.08648	0.431000	0.31685	-0.261000	0.08694	-0.566000	0.06054	-0.447000	0.05616	AGC		0.428	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		6	86	0	0	0	1	0	6	86				
ZNF445	353274	broad.mit.edu	37	3	44488739	44488739	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44488739A>G	ENST00000396077.2	-	8	2771	c.2424T>C	c.(2422-2424)caT>caC	p.H808H	ZNF445_ENST00000425708.2_Silent_p.H808H	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	808					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAATCCTCTGATGTCGGTAGA	0.443																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2422-2424)caT>caC		zinc finger protein 445							74.0	73.0	73.0					3																	44488739		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488739A>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2424T>C	3.37:g.44488739A>G						ZNF445_ENST00000396077.2_Silent_p.H808H	p.H808H			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2765	-			808					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.2424T>C	CCDS2713.1																																																																																				0.443	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		9	74	0	0	0	1	0	9	74				
LRP2	4036	broad.mit.edu	37	2	170013930	170013930	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170013930G>T	ENST00000263816.3	-	64	12255	c.11970C>A	c.(11968-11970)tcC>tcA	p.S3990S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3990	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAGCTGTACAGGAGCAGATAA	0.358																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11968-11970)tcC>tcA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						141.0	135.0	137.0					2																	170013930		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170013930G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11970C>A	2.37:g.170013930G>T							p.S3990S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	64	12255	-			3990			EGF-like 14.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11970C>A	CCDS2232.1																																																																																				0.358	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		14	26	1	0	4.36969e-10	1	5.35656e-10	14	26				
PRKCQ	5588	broad.mit.edu	37	10	6520955	6520955	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6520955T>G	ENST00000263125.5	-	12	1451	c.1352A>C	c.(1351-1353)aAg>aCg	p.K451T	PRKCQ_ENST00000539722.1_Splice_Site_p.K326T|PRKCQ_ENST00000397176.2_Splice_Site_p.K451T	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AAGCCATACCTTGGTCTGGAA	0.507																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.e12+1		protein kinase C, theta							203.0	172.0	183.0					10																	6520955		2203	4300	6503	SO:0001630	splice_region_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6520955T>G	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1353+1A>C	10.37:g.6520955T>G						PRKCQ_ENST00000397176.2_Splice_Site_p.K451_splice|PRKCQ_ENST00000539722.1_Splice_Site_p.K326_splice	p.K451_splice	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			12	1451	-			451			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Splice_Site	SNP	ENST00000263125.5	37	c.1353_splice	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450999	0.43531	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.67171	-0.25;-0.25;-0.25	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045472	0.85682	D	0.000000	T	0.60547	0.2277	N	0.10972	0.075	0.80722	D	1	B;P;D;P	0.54397	0.217;0.894;0.966;0.812	B;P;P;P	0.55749	0.075;0.635;0.783;0.559	T	0.65109	-0.6248	10	0.41790	T	0.15	.	14.2585	0.66067	0.0:0.0:0.0:1.0	.	326;223;451;451	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	T	451;451;326	ENSP00000263125:K451T;ENSP00000380361:K451T;ENSP00000441752:K326T	ENSP00000263125:K451T	K	-	2	0	PRKCQ	6560961	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	7.883000	0.87264	1.904000	0.55121	0.482000	0.46254	AAG		0.507	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	Missense_Mutation	18	31	0	0	0	1	0	18	31				
PREX1	57580	broad.mit.edu	37	20	47242458	47242458	+	Missense_Mutation	SNP	G	G	A	rs201405268		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242458G>A	ENST00000371941.3	-	40	4967	c.4945C>T	c.(4945-4947)Cgc>Tgc	p.R1649C	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1649					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGCAGAGGCGGTAGAGGCTG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14466	0.0		0.0	False		,,,				2504	0.0					ENST00000371941.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(4945-4947)Cgc>Tgc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							16.0	18.0	17.0					20																	47242458		2193	4281	6474	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47242458G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4945C>T	20.37:g.47242458G>A	ENSP00000361009:p.Arg1649Cys					PREX1_ENST00000396220.1_3'UTR	p.R1649C	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		40	4967	-			1649					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4945C>T	CCDS13410.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.90	1.480195	0.26598	.	.	ENSG00000124126	ENST00000371941	T	0.66460	-0.21	4.09	0.69	0.18039	.	0.494954	0.14091	N	0.341969	T	0.53674	0.1811	L	0.50333	1.59	0.80722	D	1	B;B	0.20164	0.017;0.042	B;B	0.15870	0.008;0.014	T	0.50833	-0.8781	10	0.66056	D	0.02	.	3.3835	0.07262	0.2131:0.0:0.4762:0.3107	.	1649;946	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	C	1649	ENSP00000361009:R1649C	ENSP00000361009:R1649C	R	-	1	0	PREX1	46675865	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	2.143000	0.42187	0.216000	0.20781	-0.694000	0.03704	CGC		0.587	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		4	6	0	0	0	1	0	4	6				
CYCS	54205	broad.mit.edu	37	7	25163588	25163588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25163588C>T	ENST00000305786.2	-	2	320	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CYCS_ENST00000409764.1_Missense_Mutation_p.A51T|CYCS_ENST00000409409.1_Missense_Mutation_p.A51T	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	51					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	TTATTGGCGGCTGTGTAAGAG	0.458																																						ENST00000305786.2																			0				endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(151-153)Gcc>Acc		cytochrome c, somatic	Melatonin(DB01065)|Minocycline(DB01017)						75.0	78.0	77.0					7																	25163588		2203	4300	6503	SO:0001583	missense	0				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding	g.chr7:25163588C>T	M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.151G>A	7.37:g.25163588C>T	ENSP00000307786:p.Ala51Thr					CYCS_ENST00000409409.1_Missense_Mutation_p.A51T|CYCS_ENST00000409764.1_Missense_Mutation_p.A51T	p.A51T	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN			2	320	-			51					A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Missense_Mutation	SNP	ENST00000305786.2	37	c.151G>A	CCDS5393.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550787	0.65311	.	.	ENSG00000172115	ENST00000305786;ENST00000409409;ENST00000409764;ENST00000413447	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.07	5.07	0.68467	Cytochrome c, class I (1);Cytochrome c domain (3);	0.200676	0.41396	U	0.000890	T	0.51907	0.1702	N	0.25201	0.72	0.54753	D	0.999981	B	0.02656	0.0	B	0.06405	0.002	T	0.48269	-0.9050	10	0.52906	T	0.07	.	18.8272	0.92123	0.0:1.0:0.0:0.0	.	51	P99999	CYC_HUMAN	T	51	ENSP00000307786:A51T;ENSP00000386270:A51T;ENSP00000387279:A51T;ENSP00000416479:A51T	ENSP00000307786:A51T	A	-	1	0	CYCS	25130113	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	7.538000	0.82048	2.493000	0.84123	0.650000	0.86243	GCC		0.458	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2			18	47	0	0	0	1	0	18	47				
WDR70	55100	broad.mit.edu	37	5	37392110	37392110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37392110G>T	ENST00000265107.4	+	4	340	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E62*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	62							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGCAAGAGAAAAAGAGGA	0.303																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(184-186)Gaa>Taa		WD repeat domain 70							82.0	84.0	83.0					5																	37392110		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37392110G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.184G>T	5.37:g.37392110G>T	ENSP00000265107:p.Glu62*					WDR70_ENST00000504564.1_Nonsense_Mutation_p.E62*	p.E62*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	340	+	all_lung(31;0.000285)		62					Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.184G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478047	0.96291	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	4.1	4.1	0.47936	.	0.407546	0.24381	N	0.039012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-18.9098	12.0276	0.53380	0.0:0.0:1.0:0.0	.	.	.	.	X	62	.	ENSP00000265107:E62X	E	+	1	0	WDR70	37427867	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.244000	0.58728	2.286000	0.76751	0.563000	0.77884	GAA		0.303	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		18	55	1	0	3.32936e-07	1	3.90007e-07	18	55				
ARSH	347527	broad.mit.edu	37	X	2951115	2951115	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2951115G>T	ENST00000381130.2	+	9	1378	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	460					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAGGAACAGGTGCCTGCTA	0.453																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1378-1380)Ggt>Tgt		arylsulfatase family, member H							104.0	90.0	95.0					X																	2951115		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2951115G>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1378G>T	X.37:g.2951115G>T	ENSP00000370522:p.Gly460Cys						p.G460C	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			9	1378	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	460						Missense_Mutation	SNP	ENST00000381130.2	37	c.1378G>T	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	g	7.978	0.750497	0.15778	.	.	ENSG00000205667	ENST00000381130	D	0.94537	-3.45	3.06	2.15	0.27550	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.241910	0.32190	U	0.006446	D	0.97486	0.9177	H	0.94423	3.535	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91410	0.5150	10	0.56958	D	0.05	.	10.3286	0.43809	0.1146:0.0:0.8854:0.0	.	460	Q5FYA8	ARSH_HUMAN	C	460	ENSP00000370522:G460C	ENSP00000370522:G460C	G	+	1	0	ARSH	2961115	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	1.053000	0.30442	1.307000	0.44944	0.513000	0.50165	GGT		0.453	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		10	104	1	0	6.40141e-05	1	7.11719e-05	10	104				
RABL6	55684	broad.mit.edu	37	9	139718007	139718007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139718007C>T	ENST00000311502.7	+	2	397	c.161C>T	c.(160-162)aCg>aTg	p.T54M	RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371675.3_5'Flank|RABL6_ENST00000371671.4_Missense_Mutation_p.T54M|RABL6_ENST00000357466.2_Missense_Mutation_p.T54M|RABL6_ENST00000432842.2_Missense_Mutation_p.T16M|RABL6_ENST00000371663.4_Missense_Mutation_p.T54M			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	54	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GACAGGAACACGGGCAAGACA	0.562																																						ENST00000371663.4																			0											c.(160-162)aCg>aTg		RAB, member RAS oncogene family-like 6							36.0	42.0	40.0					9																	139718007		1994	4171	6165	SO:0001583	missense	55684							g.chr9:139718007C>T	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.161C>T	9.37:g.139718007C>T	ENSP00000311134:p.Thr54Met					RABL6_ENST00000371671.4_Missense_Mutation_p.T54M|RABL6_ENST00000357466.2_Missense_Mutation_p.T54M|RABL6_ENST00000311502.7_Missense_Mutation_p.T54M|RABL6_ENST00000432842.2_Missense_Mutation_p.T16M	p.T54M	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3					2	436	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.161C>T	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574572	0.65878	.	.	ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.21	4.21	0.49690	Mitochondrial Rho-like (1);	0.000000	0.64402	U	0.000001	T	0.81964	0.4934	M	0.81614	2.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.973;0.988;0.993;0.984	D	0.85408	0.1135	10	0.87932	D	0	-18.9599	15.1275	0.72494	0.0:1.0:0.0:0.0	.	54;54;54;54;54	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.;.;.;PARF_HUMAN;.	M	54;54;54;54;54;16	ENSP00000360727:T54M;ENSP00000360736:T54M;ENSP00000311134:T54M;ENSP00000350056:T54M;ENSP00000414081:T16M	ENSP00000311134:T54M	T	+	2	0	C9orf86	138837828	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	7.306000	0.78905	1.876000	0.54355	0.313000	0.20887	ACG		0.562	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		5	18	0	0	0	1	0	5	18				
HEATR5B	54497	broad.mit.edu	37	2	37297471	37297471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297471C>A	ENST00000233099.5	-	7	924	c.829G>T	c.(829-831)Gga>Tga	p.G277*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G277*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	277						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CGCAGAAATCCTGTGGCCATG	0.403																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(829-831)Gga>Tga		HEAT repeat containing 5B							125.0	121.0	122.0					2																	37297471		2203	4300	6503	SO:0001587	stop_gained	54497						binding	g.chr2:37297471C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.829G>T	2.37:g.37297471C>A	ENSP00000233099:p.Gly277*					HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G277*	p.G277*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			7	924	-		all_hematologic(82;0.21)	277					B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	c.829G>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	39	7.406869	0.98265	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	4.98	4.98	0.66077	.	0.113312	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.3319	18.6004	0.91247	0.0:1.0:0.0:0.0	.	.	.	.	X	277	.	ENSP00000233099:G277X	G	-	1	0	HEATR5B	37150975	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.624000	0.83124	2.441000	0.82636	0.563000	0.77884	GGA		0.403	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		14	112	1	0	1.49906e-05	1	1.69169e-05	14	112				
ABCA9	10350	broad.mit.edu	37	17	67004269	67004269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67004269C>T	ENST00000340001.4	-	24	3466	c.3255G>A	c.(3253-3255)atG>atA	p.M1085I	ABCA9_ENST00000370732.2_Missense_Mutation_p.M1085I|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.M1085I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1085					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCATTATTTGCATTAGCAGGA	0.383																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3253-3255)atG>atA		ATP-binding cassette, sub-family A (ABC1), member 9							72.0	81.0	78.0					17																	67004269		2203	4299	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67004269C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3255G>A	17.37:g.67004269C>T	ENSP00000342216:p.Met1085Ile					ABCA9_ENST00000453985.2_Missense_Mutation_p.M1085I|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1085I|ABCA9-AS1_ENST00000458677.1_RNA	p.M1085I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			24	3466	-	Breast(10;1.47e-12)		1085					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3255G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	3.186	-0.166886	0.06461	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87729	-2.29;-2.29	4.8	-0.75	0.11080	.	0.345548	0.23977	N	0.042704	T	0.80391	0.4614	L	0.51914	1.62	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.20577	0.012;0.03	T	0.66164	-0.5992	10	0.30078	T	0.28	.	9.402	0.38437	0.0:0.5852:0.0:0.4148	.	1085;1085	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1085;1068;1085;1080	ENSP00000342216:M1085I;ENSP00000359767:M1085I	ENSP00000342216:M1085I	M	-	3	0	ABCA9	64515864	0.979000	0.34478	0.360000	0.25837	0.011000	0.07611	0.918000	0.28678	-0.034000	0.13713	0.537000	0.68136	ATG		0.383	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		30	70	0	0	0	1	0	30	70				
RGS22	26166	broad.mit.edu	37	8	101018281	101018281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101018281C>A	ENST00000360863.6	-	16	2612	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.Q794H|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523287.1_Missense_Mutation_p.Q625H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	806					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATGCAAAGCCTGTAGCTTTC	0.368																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2416-2418)caG>caT		regulator of G-protein signaling 22							109.0	104.0	106.0					8																	101018281		1830	4092	5922	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101018281C>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2418G>T	8.37:g.101018281C>A	ENSP00000354109:p.Gln806His					RGS22_ENST00000523287.1_Missense_Mutation_p.Q625H|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.Q794H	p.Q806H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		16	2612	-			806					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2418G>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634370	0.29068	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.49720	1.33;1.32;1.33;0.77	5.53	1.61	0.23674	.	0.175427	0.39083	N	0.001464	T	0.35770	0.0943	L	0.52364	1.645	0.26342	N	0.977352	B;B;B	0.27140	0.049;0.049;0.169	B;B;B	0.28553	0.026;0.026;0.091	T	0.19614	-1.0300	10	0.33940	T	0.23	.	4.9154	0.13844	0.1406:0.5733:0.0:0.2861	.	794;806;625	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	H	806;794;625;794;121	ENSP00000354109:Q806H;ENSP00000429382:Q625H;ENSP00000428212:Q794H;ENSP00000427754:Q121H	ENSP00000354109:Q806H	Q	-	3	2	RGS22	101087457	0.991000	0.36638	0.998000	0.56505	0.985000	0.73830	0.166000	0.16583	0.075000	0.16796	0.591000	0.81541	CAG		0.368	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		5	51	1	0	0.014758	1	0.0152625	5	51				
HERC2	8924	broad.mit.edu	37	15	28447534	28447534	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28447534T>G	ENST00000261609.7	-	46	7547	c.7439A>C	c.(7438-7440)aAg>aCg	p.K2480T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGAGAGACTTCAGGGCAAA	0.562																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(7438-7440)aAg>aCg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							46.0	36.0	39.0					15																	28447534		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28447534T>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7439A>C	15.37:g.28447534T>G	ENSP00000261609:p.Lys2480Thr						p.K2480T	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	46	7547	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2480						Missense_Mutation	SNP	ENST00000261609.7	37	c.7439A>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.212006	0.39102	.	.	ENSG00000128731	ENST00000261609	T	0.49720	0.77	3.99	3.99	0.46301	.	0.158580	0.50627	D	0.000109	T	0.48978	0.1530	M	0.74881	2.28	0.80722	D	1	B	0.22080	0.064	B	0.18263	0.021	T	0.56159	-0.8025	10	0.87932	D	0	.	13.3899	0.60818	0.0:0.0:0.0:1.0	.	2480	O95714	HERC2_HUMAN	T	2480	ENSP00000261609:K2480T	ENSP00000261609:K2480T	K	-	2	0	HERC2	26121129	1.000000	0.71417	0.060000	0.19600	0.449000	0.32228	7.858000	0.86971	1.808000	0.52836	0.374000	0.22700	AAG		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		12	12	0	0	0	1	0	12	12				
EXOC4	60412	broad.mit.edu	37	7	133749118	133749118	+	Missense_Mutation	SNP	C	C	T	rs149542788	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133749118C>T	ENST00000253861.4	+	18	2791	c.2762C>T	c.(2761-2763)aCg>aTg	p.T921M	EXOC4_ENST00000539845.1_Missense_Mutation_p.T820M|EXOC4_ENST00000545148.1_Missense_Mutation_p.T531M|EXOC4_ENST00000541309.1_Missense_Mutation_p.T209M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	921					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTGAAGTACACGGAGCTGGAG	0.572													C|||	12	0.00239617	0.0	0.0014	5008	,	,		19527	0.0		0.004	False		,,,				2504	0.0072					ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2761-2763)aCg>aTg		exocyst complex component 4		C	MET/THR	5,4401	8.1+/-20.4	0,5,2198	83.0	70.0	74.0		2762	4.7	1.0	7	dbSNP_134	74	10,8590	7.7+/-29.5	0,10,4290	yes	missense	EXOC4	NM_021807.3	81	0,15,6488	TT,TC,CC		0.1163,0.1135,0.1153	probably-damaging	921/975	133749118	15,12991	2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133749118C>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2762C>T	7.37:g.133749118C>T	ENSP00000253861:p.Thr921Met					EXOC4_ENST00000545148.1_Missense_Mutation_p.T531M|EXOC4_ENST00000541309.1_Missense_Mutation_p.T209M|EXOC4_ENST00000539845.1_Missense_Mutation_p.T820M	p.T921M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			18	2791	+		Esophageal squamous(399;0.129)	921					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2762C>T	CCDS5829.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	25.1	4.604624	0.87157	0.001135	0.001163	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.953;0.984;0.948	T	0.81466	-0.0920	9	0.87932	D	0	.	17.9167	0.88953	0.0:1.0:0.0:0.0	.	453;531;921	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	M	921;540;820;531;209	.	ENSP00000253861:T921M	T	+	2	0	EXOC4	133399658	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.320000	0.79064	2.456000	0.83038	0.555000	0.69702	ACG		0.572	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		14	31	0	0	0	1	0	14	31				
LRRC16B	90668	broad.mit.edu	37	14	24528897	24528897	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24528897T>C	ENST00000342740.5	+	22	1978	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	608						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATCGGAACAATACATCTGCCC	0.592																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(1822-1824)aaT>aaC		leucine rich repeat containing 16B							99.0	86.0	90.0					14																	24528897		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24528897T>C	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1824T>C	14.37:g.24528897T>C						LRRC16B_ENST00000334420.7_5'UTR	p.N608N	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	22	1978	+			608					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.1824T>C	CCDS32054.1																																																																																				0.592	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		8	25	0	0	0	1	0	8	25				
NSMAF	8439	broad.mit.edu	37	8	59498525	59498525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498525G>A	ENST00000038176.3	-	29	2693	c.2481C>T	c.(2479-2481)ggC>ggT	p.G827G	NSMAF_ENST00000427130.2_Silent_p.G858G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	827					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				cattaagacagccatctgttc	0.463																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(2479-2481)ggC>ggT		neutral sphingomyelinase (N-SMase) activation associated factor							139.0	116.0	124.0					8																	59498525		2203	4300	6503	SO:0001819	synonymous_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59498525G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2481C>T	8.37:g.59498525G>A						NSMAF_ENST00000427130.2_Silent_p.G858G	p.G827G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			29	2693	-		all_lung(136;0.174)|Lung NSC(129;0.2)	827					B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	c.2481C>T	CCDS6173.1																																																																																				0.463	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		33	56	0	0	0	1	0	33	56				
ABL1	25	broad.mit.edu	37	9	133753948	133753948	+	Nonsense_Mutation	SNP	C	C	T	rs377657490		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133753948C>T	ENST00000318560.5	+	8	1798	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGAACTCATGCGAGCATGTAA	0.502			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1417-1419)Cga>Tga		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						136.0	133.0	134.0					9																	133753948		2203	4300	6503	SO:0001587	stop_gained	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133753948C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1417C>T	9.37:g.133753948C>T	ENSP00000323315:p.Arg473*						p.R473*	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	8	1798	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	473			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	c.1417C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	42	9.454721	0.99175	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	4.77	3.72	0.42706	.	0.186522	0.42964	D	0.000639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.903	0.41359	0.403:0.597:0.0:0.0	.	.	.	.	X	288;492;473	.	ENSP00000323315:R473X	R	+	1	2	ABL1	132743769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.484000	0.66844	2.350000	0.79820	0.655000	0.94253	CGA		0.502	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		60	76	0	0	0	1	0	60	76				
PPM1K	152926	broad.mit.edu	37	4	89199408	89199408	+	Missense_Mutation	SNP	G	G	A	rs371058119		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89199408G>A	ENST00000608933.1	-	2	717	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000514204.1_Missense_Mutation_p.R110W|RNU6-112P_ENST00000363599.1_RNA|PPM1K_ENST00000315194.4_Missense_Mutation_p.R110W|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000295908.7_Missense_Mutation_p.R110W	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	110	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AAGTCAAACCGATCTTCATTC	0.498																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(328-330)Cgg>Tgg		protein phosphatase, Mg2+/Mn2+ dependent, 1K							122.0	103.0	109.0					4																	89199408		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199408G>A	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.328C>T	4.37:g.89199408G>A	ENSP00000477341:p.Arg110Trp					PPM1K_ENST00000506423.1_Missense_Mutation_p.R110W|PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.R110W	p.R110W	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	717	-		Hepatocellular(203;0.114)	110			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.328C>T	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232663	0.58777	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.10573	2.86;2.86;2.86	4.39	3.51	0.40186	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.47699	-0.9097	10	0.72032	D	0.01	-12.6424	10.9354	0.47243	0.0:0.0:0.6251:0.3748	.	110;110;110	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	W	110	ENSP00000295908:R110W;ENSP00000424155:R110W;ENSP00000324761:R110W	ENSP00000295908:R110W	R	-	1	2	PPM1K	89418432	1.000000	0.71417	0.178000	0.23040	0.545000	0.35147	5.395000	0.66291	1.132000	0.42129	0.313000	0.20887	CGG		0.498	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		9	23	0	0	0	1	0	9	23				
PAPD7	11044	broad.mit.edu	37	5	6746508	6746508	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6746508C>T	ENST00000230859.6	+	7	806	c.677C>T	c.(676-678)tCg>tTg	p.S226L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	456					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TACAGACCGTCGATGCTGTGC	0.542																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(676-678)tCg>tTg		PAP associated domain containing 7							79.0	83.0	82.0					5																	6746508		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6746508C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.677C>T	5.37:g.6746508C>T	ENSP00000230859:p.Ser226Leu						p.S226L	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			7	806	+			226			PAP-associated.		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.677C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972531	0.92919	.	.	ENSG00000112941	ENST00000230859	T	0.77750	-1.12	5.06	5.06	0.68205	PAP/25A-associated (1);	0.054132	0.85682	D	0.000000	D	0.90290	0.6963	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.983	D	0.91340	0.5096	10	0.51188	T	0.08	-6.6858	18.8036	0.92028	0.0:1.0:0.0:0.0	.	226;226	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	L	226	ENSP00000230859:S226L	ENSP00000230859:S226L	S	+	2	0	PAPD7	6799508	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.279000	0.78599	2.508000	0.84585	0.561000	0.74099	TCG		0.542	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		30	60	0	0	0	1	0	30	60				
ZNF155	7711	broad.mit.edu	37	19	44495784	44495784	+	Nonsense_Mutation	SNP	C	C	T	rs141510834	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44495784C>T	ENST00000270014.2	+	3	228	c.100C>T	c.(100-102)Cga>Tga	p.R34*	ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R34*|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R45*	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.542													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19824	0.0		0.0	False		,,,				2504	0.0				NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(100-102)Cga>Tga		zinc finger protein 155							220.0	206.0	211.0					19																	44495784		2203	4298	6501	SO:0001587	stop_gained	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44495784C>T	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.100C>T	19.37:g.44495784C>T	ENSP00000270014:p.Arg34*					ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R34*|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R45*	p.R34*	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			3	228	+		Prostate(69;0.0352)	34			KRAB.		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Nonsense_Mutation	SNP	ENST00000270014.2	37	c.100C>T	CCDS12634.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	c	24.7	4.561232	0.86335	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	.	.	.	1.64	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6022	0.33751	0.0:0.5406:0.4594:0.0	.	.	.	.	X	45;34	.	ENSP00000270014:R34X	R	+	1	2	ZNF155	49187624	0.001000	0.12720	0.296000	0.24974	0.969000	0.65631	-0.325000	0.07976	0.210000	0.20664	0.462000	0.41574	CGA		0.542	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		46	93	0	0	0	1	0	46	93				
SPTA1	6708	broad.mit.edu	37	1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612230C>T	ENST00000368147.4	-	33	4888	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1570				Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4708-4710)Gct>Act		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							106.0	106.0	106.0					1																	158612230		1972	4169	6141	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612230C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4708G>A	1.37:g.158612230C>T	ENSP00000357129:p.Ala1570Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1570T	p.A1570T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			33	4888	-	all_hematologic(112;0.0378)		1570	Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).				Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4708G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.726	1.160890	0.21538	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35789	1.29;1.35	5.26	4.35	0.52113	.	0.571149	0.13226	N	0.403989	T	0.22126	0.0533	L	0.36672	1.1	0.25252	N	0.989664	P	0.47962	0.903	P	0.49477	0.612	T	0.15723	-1.0427	10	0.22109	T	0.4	.	15.8535	0.78956	0.0:0.9269:0.0:0.0731	.	1570	P02549	SPTA1_HUMAN	T	1570	ENSP00000357130:A1570T;ENSP00000357129:A1570T	ENSP00000357129:A1570T	A	-	1	0	SPTA1	156878854	1.000000	0.71417	0.045000	0.18777	0.001000	0.01503	5.127000	0.64727	0.806000	0.34183	-0.797000	0.03246	GCT		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		36	70	0	0	0	1	0	36	70				
ERGIC3	51614	broad.mit.edu	37	20	34143831	34143831	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34143831C>A	ENST00000348547.2	+	9	822	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	ERGIC3_ENST00000447986.1_Missense_Mutation_p.L264M|ERGIC3_ENST00000357394.4_Missense_Mutation_p.L254M|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000279052.6_Missense_Mutation_p.L254M	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	249					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CATCCAGCACCTGTCATTTGG	0.572																																						ENST00000348547.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16						c.(745-747)Ctg>Atg		ERGIC and golgi 3							191.0	182.0	185.0					20																	34143831		2203	4300	6503	SO:0001583	missense	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34143831C>A	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.745C>A	20.37:g.34143831C>A	ENSP00000341358:p.Leu249Met					ERGIC3_ENST00000357394.4_Missense_Mutation_p.L254M|ERGIC3_ENST00000279052.6_Missense_Mutation_p.L254M|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000447986.1_Missense_Mutation_p.L264M	p.L249M	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		9	822	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		249					Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	c.745C>A	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.70|19.70	3.877196|3.877196	0.72294|0.72294	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052;ENST00000355563|ENST00000413587	T;T;T;T|.	0.58797|.	0.31;0.37;0.41;0.39|.	5.52|5.52	3.57|3.57	0.40892|0.40892	Domain of unknown function DUF1692 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77498|0.77498	0.4139|0.4139	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.997;1.0;1.0;0.997|.	T|T	0.78964|0.78964	-0.1996|-0.1996	10|5	0.87932|.	D|.	0|.	-40.9311|-40.9311	11.4563|11.4563	0.50183|0.50183	0.0:0.8496:0.0:0.1504|0.0:0.8496:0.0:0.1504	.|.	249;264;249;254|.	B4DV36;E9PFA8;Q9Y282;Q9Y282-3|.	.;.;ERGI3_HUMAN;.|.	M|H	249;254;264;254;112|250	ENSP00000341358:L249M;ENSP00000349970:L254M;ENSP00000392341:L264M;ENSP00000279052:L254M|.	ENSP00000279052:L254M|.	L|P	+|+	1|2	2|0	ERGIC3|ERGIC3	33607245|33607245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.950000|3.950000	0.56676|0.56676	0.678000|0.678000	0.31325|0.31325	-0.260000|-0.260000	0.10688|0.10688	CTG|CCT		0.572	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		18	137	1	0	2.94398e-08	1	3.51695e-08	18	137				
PEAK1	79834	broad.mit.edu	37	15	77473077	77473077	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77473077C>A	ENST00000560626.2	-	4	1667	c.1192G>T	c.(1192-1194)Gat>Tat	p.D398Y	PEAK1_ENST00000558305.1_Missense_Mutation_p.D398Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.D398Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	398	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTGATGAATCTTTATCCTGA	0.413																																						ENST00000560626.2																			0											c.(1192-1194)Gat>Tat		pseudopodium-enriched atypical kinase 1							121.0	109.0	113.0					15																	77473077		1827	4083	5910	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473077C>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1192G>T	15.37:g.77473077C>A	ENSP00000452796:p.Asp398Tyr					PEAK1_ENST00000558305.1_Missense_Mutation_p.D398Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.D398Y	p.D398Y			Q9H792	PEAK1_HUMAN			4	1667	-			398			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.1192G>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	7.733	0.699618	0.15106	.	.	ENSG00000173517	ENST00000312493	T	0.70986	-0.53	5.5	4.59	0.56863	.	0.166651	0.21415	U	0.074907	T	0.60971	0.2310	N	0.19112	0.55	0.35548	D	0.803591	P	0.52842	0.956	P	0.48030	0.564	T	0.71504	-0.4573	10	0.87932	D	0	-10.0455	9.8407	0.40998	0.0:0.8434:0.0:0.1566	.	398	Q9H792	PEAK1_HUMAN	Y	398	ENSP00000309230:D398Y	ENSP00000309230:D398Y	D	-	1	0	AC087465.1	75260132	0.991000	0.36638	0.894000	0.35097	0.129000	0.20672	2.435000	0.44811	1.324000	0.45282	0.555000	0.69702	GAT		0.413	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			6	123	1	0	3.59834e-05	1	4.01776e-05	6	123				
LAMA1	284217	broad.mit.edu	37	18	6959355	6959355	+	Missense_Mutation	SNP	A	A	G	rs182068076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6959355A>G	ENST00000389658.3	-	54	7856	c.7763T>C	c.(7762-7764)tTg>tCg	p.L2588S	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2588	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATTCCTGACCAAGGAGATGGA	0.582													A|||	1	0.000199681	0.0	0.0	5008	,	,		17343	0.0		0.001	False		,,,				2504	0.0					ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(7762-7764)tTg>tCg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153.0	128.0	136.0					18																	6959355		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6959355A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7763T>C	18.37:g.6959355A>G	ENSP00000374309:p.Leu2588Ser						p.L2588S	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			54	7856	-		Colorectal(10;0.172)	2588			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7763T>C	CCDS32787.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	17.53	3.411634	0.62399	.	.	ENSG00000101680	ENST00000389658;ENST00000344342	D	0.81739	-1.53	5.85	5.85	0.93711	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.574458	0.15595	N	0.254225	D	0.89818	0.6825	M	0.82716	2.605	0.42862	D	0.994116	D	0.63880	0.993	P	0.62435	0.902	D	0.90686	0.4609	10	0.87932	D	0	.	16.2375	0.82384	1.0:0.0:0.0:0.0	.	2588	P25391	LAMA1_HUMAN	S	2588;41	ENSP00000374309:L2588S	ENSP00000341000:L41S	L	-	2	0	LAMA1	6949355	0.997000	0.39634	0.772000	0.31596	0.498000	0.33706	6.769000	0.74985	2.222000	0.72286	0.533000	0.62120	TTG		0.582	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		6	70	0	0	0	1	0	6	70				
PKP3	11187	broad.mit.edu	37	11	396684	396684	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:396684C>A	ENST00000331563.2	+	2	385	c.309C>A	c.(307-309)acC>acA	p.T103T	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	103					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGACAAGACCTCGGTGAGCG	0.672																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(307-309)acC>acA		plakophilin 3							58.0	44.0	48.0					11																	396684		2198	4298	6496	SO:0001819	synonymous_variant	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:396684C>A	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.309C>A	11.37:g.396684C>A						PKP3_ENST00000530695.1_3'UTR	p.T103T	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	385	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	103					F8J390|Q53EX8	Silent	SNP	ENST00000331563.2	37	c.309C>A	CCDS7695.1																																																																																				0.672	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		9	12	1	0	0.000442599	1	0.00048047	9	12				
NIFK	84365	broad.mit.edu	37	2	122485383	122485383	+	Missense_Mutation	SNP	T	T	C	rs185171521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122485383T>C	ENST00000285814.4	-	7	871	c.799A>G	c.(799-801)Ata>Gta	p.I267V	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		267	Interaction with MKI67.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						ACACAGGATATGGGCTGTTTG	0.358																																						ENST00000285814.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(799-801)Ata>Gta									121.0	121.0	121.0					2																	122485383		2203	4300	6503	SO:0001583	missense	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485383T>C																												ENST00000285814.4:c.799A>G	2.37:g.122485383T>C	ENSP00000285814:p.Ile267Val					AC018737.1_ENST00000419902.1_RNA	p.I267V	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			7	871	-			267			Interaction with MKI67.		A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.799A>G	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	T	3.946	-0.013164	0.07727	.	.	ENSG00000155438	ENST00000285814;ENST00000423105;ENST00000447132	T;T	0.38401	2.58;1.14	5.3	-8.63	0.00878	MKI67 FHA domain-interacting nucleolar phosphoprotein, FHA Ki67 binding (1);	1.170290	0.06137	N	0.671766	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32798	-0.9893	10	0.02654	T	1	-3.5869	2.9453	0.05843	0.1157:0.236:0.1314:0.5169	.	267	Q9BYG3	MK67I_HUMAN	V	267;76;162	ENSP00000285814:I267V;ENSP00000406227:I162V	ENSP00000285814:I267V	I	-	1	0	MKI67IP	122201853	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	-1.062000	0.03468	-1.080000	0.03109	-0.421000	0.06004	ATA		0.358	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			6	122	0	0	0	1	0	6	122				
RPRD2	23248	broad.mit.edu	37	1	150443996	150443996	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150443996C>A	ENST00000369068.4	+	11	2576	c.2572C>A	c.(2572-2574)Ctg>Atg	p.L858M	RPRD2_ENST00000539519.1_Missense_Mutation_p.L832M|RPRD2_ENST00000401000.4_Missense_Mutation_p.L832M|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	858	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAATCTATCCTGAAATCAAG	0.468																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2494-2496)Ctg>Atg		regulation of nuclear pre-mRNA domain containing 2							48.0	46.0	47.0					1																	150443996		1905	4115	6020	SO:0001583	missense	23248						protein binding	g.chr1:150443996C>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2572C>A	1.37:g.150443996C>A	ENSP00000358064:p.Leu858Met					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.L832M|RPRD2_ENST00000369068.4_Missense_Mutation_p.L858M	p.L832M			Q5VT52	RPRD2_HUMAN			10	2559	+			858			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2494C>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150107	0.37923	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.62498	0.02;0.03;0.03	5.12	4.21	0.49690	.	0.000000	0.53938	D	0.000048	T	0.53465	0.1798	L	0.27053	0.805	0.29190	N	0.87595	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.85130	0.99;0.994;0.997	T	0.53676	-0.8405	10	0.72032	D	0.01	-5.24	9.4521	0.38731	0.0:0.7776:0.0:0.2224	.	832;858;832	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	M	832;832;858	ENSP00000383785:L832M;ENSP00000445482:L832M;ENSP00000358064:L858M	ENSP00000358064:L858M	L	+	1	2	RPRD2	148710620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.427000	0.34881	1.390000	0.46547	0.650000	0.86243	CTG		0.468	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		25	32	1	0	2.48779e-11	1	3.09936e-11	25	32				
PTPRZ1	5803	broad.mit.edu	37	7	121652220	121652220	+	Silent	SNP	G	G	A	rs188204509	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121652220G>A	ENST00000393386.2	+	12	3531	c.3120G>A	c.(3118-3120)gcG>gcA	p.A1040A	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1040					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATAAGGCGCTTTCTAAAA	0.383													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20789	0.0		0.001	False		,,,				2504	0.0					ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3118-3120)gcG>gcA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							84.0	87.0	86.0					7																	121652220		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652220G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3120G>A	7.37:g.121652220G>A						PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.A1040A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3531	+			1040					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3120G>A	CCDS34740.1																																																																																				0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		25	72	0	0	0	1	0	25	72				
USP24	23358	broad.mit.edu	37	1	55560968	55560968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55560968G>A	ENST00000294383.6	-	51	6162	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*	USP24_ENST00000407756.1_Nonsense_Mutation_p.R1895*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2055					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACGCTGACTCGACTTTTCTTT	0.448																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6163-6165)Cga>Tga		ubiquitin specific peptidase 24							84.0	84.0	84.0					1																	55560968		2203	4300	6503	SO:0001587	stop_gained	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55560968G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6163C>T	1.37:g.55560968G>A	ENSP00000294383:p.Arg2055*					USP24_ENST00000407756.1_Nonsense_Mutation_p.R1895*	p.R2055*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			51	6162	-			2055					Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	c.6163C>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	47	13.443627	0.99742	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	16.7884	0.85580	0.0:0.0:0.8706:0.1293	.	.	.	.	X	2055;1895	.	ENSP00000294383:R2055X	R	-	1	2	USP24	55333556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.457000	0.53007	2.868000	0.98415	0.557000	0.71058	CGA		0.448	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	19	0	0	0	1	0	8	19				
ZAP70	7535	broad.mit.edu	37	2	98354296	98354296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98354296G>T	ENST00000264972.5	+	12	1774	c.1559G>T	c.(1558-1560)aGc>aTc	p.S520I	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.S213I|ZAP70_ENST00000442208.1_Missense_Mutation_p.S394I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	520	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TCCAGCCGCAGCGATGTCTGG	0.652																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1558-1560)aGc>aTc		zeta-chain (TCR) associated protein kinase 70kDa							124.0	133.0	130.0					2																	98354296		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354296G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1559G>T	2.37:g.98354296G>T	ENSP00000264972:p.Ser520Ile					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.S213I|ZAP70_ENST00000442208.1_Missense_Mutation_p.S394I	p.S520I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			12	1774	+			520			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1559G>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881884	0.91740	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.89415	-2.51;-2.51;-2.51	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000014	D	0.95089	0.8409	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95650	0.8706	10	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	394;520	P43403-3;P43403	.;ZAP70_HUMAN	I	520;394;213	ENSP00000264972:S520I;ENSP00000411141:S394I;ENSP00000400475:S213I	ENSP00000264972:S520I	S	+	2	0	ZAP70	97720728	1.000000	0.71417	0.979000	0.43373	0.972000	0.66771	9.833000	0.99426	2.610000	0.88304	0.655000	0.94253	AGC		0.652	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	145	1	0	0.000978159	1	0.00105116	10	145				
MED24	9862	broad.mit.edu	37	17	38178736	38178736	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38178736G>T	ENST00000394128.2	-	22	2515	c.2434C>A	c.(2434-2436)Ctg>Atg	p.L812M	MED24_ENST00000394127.2_Splice_Site_p.L799M|MED24_ENST00000394126.1_Splice_Site_p.L837M|MED24_ENST00000501516.3_Splice_Site_p.L831M|MED24_ENST00000356271.3_Splice_Site_p.L799M	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	812					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACGGCCAGCCTGGCAAAG	0.622																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.e21-1		mediator complex subunit 24							32.0	32.0	32.0					17																	38178736		2203	4300	6503	SO:0001630	splice_region_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38178736G>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2433-1C>A	17.37:g.38178736G>T						MED24_ENST00000501516.3_Splice_Site_p.L831_splice|MED24_ENST00000356271.3_Splice_Site_p.L799_splice|MED24_ENST00000394128.2_Splice_Site_p.L812_splice|MED24_ENST00000394127.2_Splice_Site_p.L799_splice	p.L837_splice			O75448	MED24_HUMAN			21	2927	-	Colorectal(19;0.000442)		812					A8K4S5|B3KMR9|Q14143|Q9NNY5	Splice_Site	SNP	ENST00000394128.2	37	c.2507_splice	CCDS11359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.52|16.52	3.144937|3.144937	0.57044|0.57044	.|.	.|.	ENSG00000008838|ENSG00000008838	ENST00000422942|ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	.|T;T;T	.|0.62941	.|-0.01;-0.01;-0.01	5.33|5.33	3.34|3.34	0.38264|0.38264	.|Mediator complex, subunit Med24, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74053|0.74053	0.3666|0.3666	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;0.998;0.999;0.999	T|T	0.73751|0.73751	-0.3884|-0.3884	5|10	.|0.72032	.|D	.|0.01	-9.1134|-9.1134	9.2929|9.2929	0.37797|0.37797	0.2192:0.0:0.7808:0.0|0.2192:0.0:0.7808:0.0	.|.	.|722;722;799;812;754	.|F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.|.;.;.;MED24_HUMAN;.	D|M	66|812;812;812;762;799;754;722	.|ENSP00000377686:L812M;ENSP00000443344:L762M;ENSP00000377685:L799M	.|ENSP00000348610:L812M	A|L	-|-	2|1	0|2	MED24|MED24	35432262|35432262	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.948000|0.948000	0.59901|0.59901	2.333000|2.333000	0.43912|0.43912	0.633000|0.633000	0.30452|0.30452	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.622	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	Missense_Mutation	3	11	1	0	0.115264	1	0.117355	3	11				
NAMPT	10135	broad.mit.edu	37	7	105909631	105909631	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105909631T>A	ENST00000222553.3	-	5	882	c.575A>T	c.(574-576)gAt>gTt	p.D192V	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.D192V	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	192					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTAGCCAAAATCATGTAACTT	0.363																																						ENST00000222553.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(574-576)gAt>gTt		nicotinamide phosphoribosyltransferase							61.0	59.0	60.0					7																	105909631		2203	4300	6503	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105909631T>A	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.575A>T	7.37:g.105909631T>A	ENSP00000222553:p.Asp192Val					NAMPT_ENST00000354289.4_Missense_Mutation_p.D192V|NAMPT_ENST00000484527.1_5'UTR	p.D192V	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN			5	882	-			192					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.575A>T	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279183	0.80692	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	4.97	4.97	0.65823	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.093907	0.64402	D	0.000001	D	0.87083	0.6089	H	0.96269	3.795	0.80722	D	1	D;D;P	0.76494	0.997;0.999;0.949	D;D;P	0.77557	0.975;0.99;0.542	D	0.91303	0.5068	9	0.87932	D	0	-9.6191	14.9186	0.70818	0.0:0.0:0.0:1.0	.	105;173;192	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	V	192	.	ENSP00000222553:D192V	D	-	2	0	NAMPT	105696867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.941000	0.87700	1.972000	0.57404	0.528000	0.53228	GAT		0.363	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		47	24	0	0	0	1	0	47	24				
CENPL	91687	broad.mit.edu	37	1	173780371	173780371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173780371C>T	ENST00000345664.6	-	2	280	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000356198.2_Missense_Mutation_p.G23S|CENPL_ENST00000367710.3_Missense_Mutation_p.G23S	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	23					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GGAGTGGCACCTATAAAGTAA	0.448																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(67-69)Ggt>Agt		centromere protein L							151.0	153.0	152.0					1																	173780371		2203	4300	6503	SO:0001583	missense	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173780371C>T	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.67G>A	1.37:g.173780371C>T	ENSP00000323543:p.Gly23Ser					CENPL_ENST00000345664.6_Missense_Mutation_p.G23S|CENPL_ENST00000367710.3_Missense_Mutation_p.G23S	p.G23S	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			3	352	-			23					Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	c.67G>A	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420182	0.25552	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.47177	1.39;0.85;0.85	4.68	2.47	0.30058	.	0.315191	0.32836	N	0.005595	T	0.07458	0.0188	N	0.17474	0.49	0.09310	N	1	B;B	0.20052	0.041;0.0	B;B	0.14578	0.011;0.001	T	0.39482	-0.9612	10	0.02654	T	1	-2.9463	6.3565	0.21404	0.0:0.6397:0.0:0.3603	.	23;23	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	S	23	ENSP00000348527:G23S;ENSP00000323543:G23S;ENSP00000356683:G23S	ENSP00000323543:G23S	G	-	1	0	CENPL	172046994	0.003000	0.15002	0.050000	0.19076	0.758000	0.43043	0.215000	0.17562	0.485000	0.27652	0.561000	0.74099	GGT		0.448	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		60	71	0	0	0	1	0	60	71				
PTEN	5728	broad.mit.edu	37	10	89692973	89692973	+	Missense_Mutation	SNP	G	G	T	rs9651492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89692973G>T	ENST00000371953.3	+	5	1814	c.457G>T	c.(457-459)Gat>Tat	p.D153Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	153	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D153Y(2)|p.D153N(1)|p.D153fs*27(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAGGCCCTAGATTTCTATGG	0.378		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Insertion - Frameshift(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D153Y(2)|p.D153N(1)|p.D153fs*27(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|large_intestine(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(457-459)Gat>Tat		phosphatase and tensin homolog							57.0	60.0	59.0					10																	89692973		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692973G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.457G>T	10.37:g.89692973G>T	ENSP00000361021:p.Asp153Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D153Y	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1814	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	153			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.457G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605084	0.87157	.	.	ENSG00000171862	ENST00000371953	D	0.98762	-5.12	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	L	0.44542	1.39	0.80722	D	1	D	0.60575	0.988	D	0.64321	0.924	D	0.98863	1.0763	9	.	.	.	-13.0805	18.7776	0.91918	0.0:0.0:1.0:0.0	.	153	P60484	PTEN_HUMAN	Y	153	ENSP00000361021:D153Y	.	D	+	1	0	PTEN	89682953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GAT		0.378	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		28	57	1	0	7.26314e-15	1	9.28782e-15	28	57				
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A	rs201550049	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16087	0.0		0.001	False		,,,				2504	0.0					ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1909-1911)cGg>cAg		InaD-like (Drosophila)							156.0	160.0	158.0					1																	62293185		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62293185G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1910G>A	1.37:g.62293185G>A	ENSP00000360200:p.Arg637Gln					INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	p.R637Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			16	2024	+			637			PDZ 4.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1910G>A	CCDS617.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.516304	0.96402	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.54675	0.56;0.56	5.63	5.63	0.86233	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000012	T	0.73745	0.3626	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.995	T	0.75662	-0.3240	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	637;637;637	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	Q	637	ENSP00000360200:R637Q;ENSP00000326199:R637Q	ENSP00000255202:R637Q	R	+	2	0	INADL	62065773	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	8.202000	0.89737	2.641000	0.89580	0.591000	0.81541	CGG		0.443	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		44	66	0	0	0	1	0	44	66				
NPY4R	5540	broad.mit.edu	37	10	47086853	47086853	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47086853C>A	ENST00000395716.1	+	2	155	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	NPY4R_ENST00000374312.1_Missense_Mutation_p.L24M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	24					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AAGCAAACCCCTGGGCACCCC	0.507																																						ENST00000374312.1																			0											c.(70-72)Ctg>Atg		neuropeptide Y receptor Y4							134.0	127.0	129.0					10																	47086853		2203	4300	6503	SO:0001583	missense	0							g.chr10:47086853C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.70C>A	10.37:g.47086853C>A	ENSP00000379066:p.Leu24Met					NPY4R_ENST00000395716.1_Missense_Mutation_p.L24M	p.L24M	NM_005972.4	NP_005963.3					3	489	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.70C>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	2.899	-0.228003	0.06022	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.38401	1.14;1.14	4.78	-8.4	0.00965	.	2.638050	0.00903	N	0.002367	T	0.26195	0.0639	L	0.50333	1.59	0.09310	N	1	P	0.38148	0.62	B	0.36885	0.235	T	0.32955	-0.9887	10	0.44086	T	0.13	.	2.793	0.05393	0.1687:0.4369:0.2373:0.1572	.	24	P50391	NPY4R_HUMAN	M	24	ENSP00000363431:L24M;ENSP00000379066:L24M	ENSP00000363431:L24M	L	+	1	2	PPYR1	46506859	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.134000	0.10436	-1.511000	0.01794	-1.014000	0.02459	CTG		0.507	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			13	90	1	0	6.72482e-11	1	8.32712e-11	13	90				
SENP6	26054	broad.mit.edu	37	6	76412580	76412580	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76412580A>G	ENST00000447266.2	+	19	2986	c.2508A>G	c.(2506-2508)gtA>gtG	p.V836V	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Silent_p.V829V|SENP6_ENST00000370014.3_Silent_p.V836V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	836	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCATAGCTGTAATTGATTCCA	0.368																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2506-2508)gtA>gtG		SUMO1/sentrin specific peptidase 6							73.0	68.0	70.0					6																	76412580		1822	4088	5910	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412580A>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2508A>G	6.37:g.76412580A>G						SENP6_ENST00000447266.2_Silent_p.V836V|SENP6_ENST00000370010.2_Silent_p.V829V|SENP6_ENST00000541192.1_Intron	p.V836V	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	3127	+		all_hematologic(105;0.189)	836			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.2508A>G	CCDS47454.1																																																																																				0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		3	76	0	0	0	1	0	3	76				
HOMER1	9456	broad.mit.edu	37	5	78693448	78693448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78693448C>T	ENST00000334082.6	-	7	2139	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.E59K|HOMER1_ENST00000282260.6_Missense_Mutation_p.E103K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	233					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTAACACATTCAAGTTCAGTC	0.328																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(697-699)Gaa>Aaa		homer homolog 1 (Drosophila)							203.0	179.0	186.0					5																	78693448		1835	4088	5923	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78693448C>T	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.697G>A	5.37:g.78693448C>T	ENSP00000334382:p.Glu233Lys					HOMER1_ENST00000282260.6_Missense_Mutation_p.E103K|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.E59K	p.E233K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	7	2139	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	233					B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.697G>A	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547363	0.86022	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.80824	-1.42;1.15;-1.42	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89501	0.6733	M	0.76328	2.33	0.80722	D	1	D;P;D	0.71674	0.998;0.927;0.994	D;D;D	0.78314	0.991;0.953;0.945	D	0.88039	0.2780	10	0.40728	T	0.16	-4.8786	18.813	0.92065	0.0:1.0:0.0:0.0	.	59;103;233	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	K	233;103;59	ENSP00000334382:E233K;ENSP00000282260:E103K;ENSP00000441587:E59K	ENSP00000282260:E103K	E	-	1	0	HOMER1	78729204	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.943000	0.75934	2.745000	0.94114	0.563000	0.77884	GAA		0.328	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		6	90	0	0	0	1	0	6	90				
CNOT7	29883	broad.mit.edu	37	8	17102653	17102653	+	Silent	SNP	C	C	T	rs376194907		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17102653C>T	ENST00000361272.4	-	2	307	c.9G>A	c.(7-9)gcG>gcA	p.A3A	VPS37A_ENST00000521829.1_5'Flank|VPS37A_ENST00000324815.3_5'Flank|VPS37A_ENST00000324849.4_5'Flank|CNOT7_ENST00000523917.1_Silent_p.A3A|VPS37A_ENST00000521005.1_5'Flank|CNOT7_ENST00000518885.1_5'UTR	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	3					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTACAGTTGCCGCTGGCATAG	0.353																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(7-9)gcG>gcA		CCR4-NOT transcription complex, subunit 7		C	,	0,4406		0,0,2203	58.0	55.0	56.0		9,9	2.0	1.0	8		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CNOT7	NM_013354.5,NM_054026.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	3/286,3/245	17102653	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17102653C>T	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.9G>A	8.37:g.17102653C>T						CNOT7_ENST00000523917.1_Silent_p.A3A|CNOT7_ENST00000518885.1_5'UTR	p.A3A	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	2	307	-			3					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Silent	SNP	ENST00000361272.4	37	c.9G>A	CCDS6000.2																																																																																				0.353	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		15	37	0	0	0	1	0	15	37				
AQP1	358	broad.mit.edu	37	7	30951901	30951901	+	Missense_Mutation	SNP	G	G	A	rs556371635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30951901G>A	ENST00000311813.4	+	1	432	c.377G>A	c.(376-378)cGc>cAc	p.R126H	AQP1_ENST00000509504.1_Missense_Mutation_p.R303H|AQP1_ENST00000434909.2_Missense_Mutation_p.R186H	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	126					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.R126H(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	TCGCTTGGCCGCAATGACGTG	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19237	0.0		0.0	False		,,,				2504	0.0					ENST00000311813.4																			1	Substitution - Missense(1)	p.R126H(1)	lung(1)	kidney(1)|large_intestine(2)|lung(9)	12						c.(376-378)cGc>cAc		aquaporin 1							63.0	66.0	65.0					7																	30951901		2203	4300	6503	SO:0001583	missense	358							g.chr7:30951901G>A	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.377G>A	7.37:g.30951901G>A	ENSP00000311165:p.Arg126His					AQP1_ENST00000509504.1_Missense_Mutation_p.R303H|AQP1_ENST00000434909.2_Missense_Mutation_p.R186H	p.R126H	NM_198098.2	NP_932766.1					1	432	+		Melanoma(862;0.16)						B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.377G>A	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639843	0.47153	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000509504	D;D;D	0.92911	-3.13;-3.13;-3.13	4.61	0.292	0.15737	Aquaporin-like (2);	0.316649	0.33572	N	0.004761	D	0.86908	0.6046	N	0.16201	0.385	0.80722	D	1	D;P	0.63880	0.993;0.468	P;B	0.50659	0.647;0.111	D	0.85027	0.0915	10	0.51188	T	0.08	.	12.5957	0.56468	0.0:0.0:0.2754:0.7246	.	186;126	B4E220;P29972	.;AQP1_HUMAN	H	186;31;126;111;303	ENSP00000395059:R186H;ENSP00000311165:R126H;ENSP00000421315:R303H	ENSP00000265298:R31H	R	+	2	0	RP5-877J2.1;AQP1	30918426	1.000000	0.71417	0.972000	0.41901	0.317000	0.28152	3.025000	0.49681	0.223000	0.20920	0.561000	0.74099	CGC		0.612	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		28	97	0	0	0	1	0	28	97				
EMC1	23065	broad.mit.edu	37	1	19550001	19550001	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19550001G>T	ENST00000477853.1	-	19	2307	c.2265C>A	c.(2263-2265)acC>acA	p.T755T	EMC1_ENST00000375208.3_Silent_p.T733T|EMC1_ENST00000480380.1_5'Flank|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.T754T	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	755						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGCCAATAAAGGTGCGCTCAT	0.542																																						ENST00000477853.1																			0											c.(2263-2265)acC>acA		ER membrane protein complex subunit 1							205.0	169.0	181.0					1																	19550001		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19550001G>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2265C>A	1.37:g.19550001G>T						RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.T754T|EMC1_ENST00000375208.3_Silent_p.T733T	p.T755T	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					19	2307	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.2265C>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	8.344	0.829303	0.16749	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.69	3.78	0.43462	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50415	-0.8831	4	.	.	.	-29.6477	7.075	0.25199	0.1501:0.0:0.7085:0.1414	.	.	.	.	I	489	.	.	L	-	1	0	KIAA0090	19422588	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.814000	0.55643	0.728000	0.32382	0.462000	0.41574	CTT		0.542	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		39	55	1	0	1.58521e-26	1	2.11156e-26	39	55				
IQGAP2	10788	broad.mit.edu	37	5	75969777	75969777	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75969777T>C	ENST00000274364.6	+	26	3507	c.3210T>C	c.(3208-3210)ccT>ccC	p.P1070P	IQGAP2_ENST00000502745.1_Splice_Site_p.P566P|IQGAP2_ENST00000379730.3_Splice_Site_p.P572P|IQGAP2_ENST00000396234.3_Splice_Site_p.P566P	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1070	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTATATGTAGTTATGGATTGA	0.363																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.e26-1		IQ motif containing GTPase activating protein 2							88.0	86.0	87.0					5																	75969777		2203	4300	6503	SO:0001630	splice_region_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75969777T>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3210-1T>C	5.37:g.75969777T>C						IQGAP2_ENST00000396234.3_Splice_Site_p.P566_splice|IQGAP2_ENST00000502745.1_Splice_Site_p.P566_splice|IQGAP2_ENST00000379730.3_Splice_Site_p.P572_splice	p.P1070_splice	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	26	3507	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1070			Ras-GAP.		A8K4V1|B7Z8A4|J3KR91	Splice_Site	SNP	ENST00000274364.6	37	c.3209_splice	CCDS34188.1																																																																																				0.363	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	Silent	7	76	0	0	0	1	0	7	76				
CEP350	9857	broad.mit.edu	37	1	180056829	180056829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180056829C>T	ENST00000367607.3	+	32	6820	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2134					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACCCAAGATCAAACCCCTCA	0.393																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6400-6402)atC>atT		centrosomal protein 350kDa							64.0	55.0	58.0					1																	180056829		2202	4297	6499	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180056829C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6402C>T	1.37:g.180056829C>T						CEP350_ENST00000490141.1_3'UTR	p.I2134I	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			32	6820	+			2134					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.6402C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227362	0.22542	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	.	Q	+	1	0	CEP350	178323452	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.581000	0.36558	2.683000	0.91414	0.655000	0.94253	CAA		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	5	0	0	0	1	0	4	5				
VEGFA	7422	broad.mit.edu	37	6	43748509	43748509	+	Missense_Mutation	SNP	C	C	T	rs371177206		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43748509C>T	ENST00000523873.1	+	6	501	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000372055.4_Missense_Mutation_p.R335C|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000518689.1_Missense_Mutation_p.R155C|VEGFA_ENST00000413642.3_Missense_Mutation_p.R335C|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000425836.2_Missense_Mutation_p.R335C|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.R155C|VEGFA_ENST00000324450.6_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	155					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	AAAACGAAAGCGCAAGAAATC	0.547																																						ENST00000425836.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(1003-1005)Cgc>Tgc		vascular endothelial growth factor A	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,,,,,,,,,,	0,4406		0,0,2203	148.0	141.0	143.0		1003,1003,463,463,463,463,1003,1003,,,,,,,,,,	4.8	1.0	6		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron	VEGFA	NM_001025366.2,NM_001025367.2,NM_001171623.1,NM_001171624.1,NM_001171625.1,NM_001204384.1,NM_001204385.1,NM_003376.5,NM_001025368.2,NM_001025369.2,NM_001025370.2,NM_001033756.2,NM_001171622.1,NM_001171626.1,NM_001171627.1,NM_001171628.1,NM_001171629.1,NM_001171630.1	180,180,180,180,180,180,180,180,,,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,,,,,,,,	335/413,335/390,155/233,155/216,155/210,155/172,335/352,335/396,,,,,,,,,,	43748509	1,13005	2203	4300	6503	SO:0001583	missense	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43748509C>T	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.463C>T	6.37:g.43748509C>T	ENSP00000430479:p.Arg155Cys					VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000372055.4_Missense_Mutation_p.R335C|VEGFA_ENST00000518689.1_Missense_Mutation_p.R155C|VEGFA_ENST00000523873.1_Missense_Mutation_p.R155C|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.R155C|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000413642.3_Missense_Mutation_p.R335C|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523125.1_Intron	p.R335C			P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		6	1003	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		155					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.1003C>T	CCDS55010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.547748|4.547748	0.86022|0.86022	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112715|ENSG00000112715	ENST00000519767|ENST00000413642;ENST00000372055;ENST00000425836;ENST00000520948;ENST00000523873;ENST00000518689	.|D;D;D;D;D;D	.|0.92805	.|-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|4.874030	.|0.00481	.|N	.|0.000132	D|D	0.91533|0.91533	0.7326|0.7326	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.992;0.966;0.996	T|T	0.83259|0.83259	-0.0049|-0.0049	5|10	.|0.29301	.|T	.|0.29	-16.0802|-16.0802	17.3086|17.3086	0.87202|0.87202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|335;155;335	.|P15692-14;P15692-3;P15692-13	.|.;.;.	V|C	306|335;335;335;155;155;155	.|ENSP00000389864:R335C;ENSP00000361125:R335C;ENSP00000388465:R335C;ENSP00000428321:R155C;ENSP00000430479:R155C;ENSP00000430829:R155C	.|ENSP00000361125:R335C	A|R	+|+	2|1	0|0	VEGFA|VEGFA	43856487|43856487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.688000|5.688000	0.68227|0.68227	2.387000|2.387000	0.81309|0.81309	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.547	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		28	54	0	0	0	1	0	28	54				
KCNH6	81033	broad.mit.edu	37	17	61623025	61623025	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61623025C>A	ENST00000583023.1	+	14	2758	c.2747C>A	c.(2746-2748)cCc>cAc	p.P916H	KCNH6_ENST00000314672.5_Missense_Mutation_p.P880H|KCNH6_ENST00000456941.2_Missense_Mutation_p.P827H|KCNH6_ENST00000581784.1_Missense_Mutation_p.P827H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	916					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AACTCCTCCCCCAGGATGCCT	0.597																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2746-2748)cCc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						83.0	74.0	77.0					17																	61623025		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61623025C>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2747C>A	17.37:g.61623025C>A	ENSP00000463533:p.Pro916His					KCNH6_ENST00000456941.2_Missense_Mutation_p.P827H|KCNH6_ENST00000314672.5_Missense_Mutation_p.P880H|KCNH6_ENST00000581784.1_Missense_Mutation_p.P827H	p.P916H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			14	2758	+			916					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2747C>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978514	0.34942	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99376	-5.79	4.71	3.7	0.42460	.	0.634068	0.12953	N	0.425668	D	0.97589	0.9210	L	0.36672	1.1	0.09310	N	1	B;P;P;P	0.49696	0.412;0.927;0.547;0.668	B;B;B;B	0.41946	0.259;0.371;0.346;0.326	D	0.93428	0.6783	10	0.54805	T	0.06	.	13.1908	0.59709	0.0:0.8398:0.1602:0.0	.	757;880;827;916	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	H	916;827	ENSP00000396900:P827H	ENSP00000318212:P916H	P	+	2	0	KCNH6	58976757	0.934000	0.31675	0.003000	0.11579	0.002000	0.02628	3.077000	0.50089	1.043000	0.40175	0.467000	0.42956	CCC		0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		6	51	1	0	5.9392e-07	1	6.91975e-07	6	51				
OR7A10	390892	broad.mit.edu	37	19	14952390	14952390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952390C>A	ENST00000248058.1	-	1	299	c.300G>T	c.(298-300)caG>caT	p.Q100H		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100H(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AAAAGCACATCTGGGTGATGC	0.483																																						ENST00000248058.1																			1	Substitution - Missense(1)	p.Q100H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(298-300)caG>caT		olfactory receptor, family 7, subfamily A, member 10							123.0	104.0	110.0					19																	14952390		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952390C>A		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.300G>T	19.37:g.14952390C>A	ENSP00000248058:p.Gln100His						p.Q100H	NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN			1	299	-	Ovarian(108;0.203)		100					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.300G>T	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	c	8.037	0.763097	0.15914	.	.	ENSG00000127515	ENST00000248058	T	0.00472	7.19	2.8	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37136	U	0.002240	T	0.02047	0.0064	H	0.98238	4.18	0.22675	N	0.998864	D	0.89917	1.0	D	0.77557	0.99	T	0.33548	-0.9864	10	0.87932	D	0	.	4.8687	0.13622	0.0:0.7004:0.0:0.2996	.	100	O76100	OR7AA_HUMAN	H	100	ENSP00000248058:Q100H	ENSP00000248058:Q100H	Q	-	3	2	OR7A10	14813390	0.000000	0.05858	0.038000	0.18304	0.022000	0.10575	-0.388000	0.07352	0.524000	0.28502	0.194000	0.17425	CAG		0.483	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		4	40	1	0	0.150653	1	0.152692	4	40				
LRIG1	26018	broad.mit.edu	37	3	66465424	66465424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66465424C>T	ENST00000273261.3	-	5	1091	c.567G>A	c.(565-567)tcG>tcA	p.S189S	LRIG1_ENST00000383703.3_Silent_p.S189S	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	189					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAGTTAGCAGCGACCGTGACA	0.502																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(565-567)tcG>tcA		leucine-rich repeats and immunoglobulin-like domains 1							164.0	140.0	148.0					3																	66465424		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66465424C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.567G>A	3.37:g.66465424C>T						LRIG1_ENST00000273261.3_Silent_p.S189S	p.S189S			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	5	1170	-		Lung NSC(201;0.0101)	189					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.567G>A	CCDS33783.1																																																																																				0.502	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		29	44	0	0	0	1	0	29	44				
TENM4	26011	broad.mit.edu	37	11	78369121	78369121	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78369121G>A	ENST00000278550.7	-	34	8754	c.8292C>T	c.(8290-8292)agC>agT	p.S2764S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2764					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGCCCATCTCGCTCTGTCTCA	0.512																																						ENST00000278550.7																			0											c.(8290-8292)agC>agT		teneurin transmembrane protein 4							237.0	247.0	243.0					11																	78369121		2113	4228	6341	SO:0001819	synonymous_variant	26011							g.chr11:78369121G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8292C>T	11.37:g.78369121G>A							p.S2764S	NM_001098816.2	NP_001092286.2					34	8754	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.8292C>T	CCDS44688.1																																																																																				0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			90	194	0	0	0	1	0	90	194				
WDR63	126820	broad.mit.edu	37	1	85589885	85589885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85589885T>C	ENST00000294664.6	+	19	2243	c.2063T>C	c.(2062-2064)aTt>aCt	p.I688T	WDR63_ENST00000370596.1_Missense_Mutation_p.I649T|WDR63_ENST00000326813.8_Missense_Mutation_p.I649T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	688										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACGACATTATTCTCACGGTT	0.443																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2062-2064)aTt>aCt		WD repeat domain 63							383.0	308.0	334.0					1																	85589885		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85589885T>C		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2063T>C	1.37:g.85589885T>C	ENSP00000294664:p.Ile688Thr					WDR63_ENST00000370596.1_Missense_Mutation_p.I649T|WDR63_ENST00000326813.8_Missense_Mutation_p.I649T	p.I688T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	19	2243	+			688					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.2063T>C	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986847	0.53934	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.68025	-0.3;-0.3;-0.3	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.247012	0.46758	D	0.000278	T	0.62720	0.2451	M	0.64404	1.975	0.45025	D	0.998041	P;P	0.44734	0.842;0.469	P;B	0.46452	0.517;0.221	T	0.69800	-0.5047	10	0.72032	D	0.01	-8.1248	15.4425	0.75195	0.0:0.0:0.0:1.0	.	649;688	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	T	649;649;688	ENSP00000359628:I649T;ENSP00000317463:I649T;ENSP00000294664:I688T	ENSP00000294664:I688T	I	+	2	0	WDR63	85362473	1.000000	0.71417	0.974000	0.42286	0.302000	0.27658	6.815000	0.75242	2.188000	0.69820	0.482000	0.46254	ATT		0.443	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		60	134	0	0	0	1	0	60	134				
SLC22A15	55356	broad.mit.edu	37	1	116569603	116569603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116569603C>A	ENST00000369503.4	+	5	818	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	SLC22A15_ENST00000369502.1_Missense_Mutation_p.L230M	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	230					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTAGCCATTCTGGTTAACCT	0.443																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(688-690)Ctg>Atg		solute carrier family 22, member 15							134.0	125.0	127.0					1																	116569603		1845	4092	5937	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116569603C>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.688C>A	1.37:g.116569603C>A	ENSP00000358515:p.Leu230Met					SLC22A15_ENST00000369502.1_Missense_Mutation_p.L230M	p.L230M	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	5	818	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	230					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.688C>A	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	9.436	1.086868	0.20390	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.63744	-0.06;0.13	5.05	1.83	0.25207	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.335480	0.31221	N	0.008033	T	0.53610	0.1807	L	0.58510	1.815	0.31968	N	0.607495	B;P	0.38250	0.389;0.624	P;B	0.50896	0.653;0.426	T	0.54781	-0.8242	10	0.62326	D	0.03	.	8.9769	0.35941	0.2364:0.5726:0.191:0.0	.	230;230	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	M	230	ENSP00000358515:L230M;ENSP00000358514:L230M	ENSP00000358514:L230M	L	+	1	2	SLC22A15	116371126	1.000000	0.71417	0.644000	0.29465	0.190000	0.23558	3.339000	0.52135	0.759000	0.33084	0.655000	0.94253	CTG		0.443	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		8	101	1	0	3.09899e-07	1	3.63227e-07	8	101				
ABI3BP	25890	broad.mit.edu	37	3	100489739	100489739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489739G>A	ENST00000284322.5	-	29	2565	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F	ABI3BP_ENST00000471714.1_Missense_Mutation_p.S1521F|ABI3BP_ENST00000383691.4_Missense_Mutation_p.S773F	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	819					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCGTTTGACAGAGTCAGTAAT	0.532																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4561-4563)tCt>tTt		ABI family, member 3 (NESH) binding protein							180.0	187.0	185.0					3																	100489739		1984	4177	6161	SO:0001583	missense	25890					extracellular space		g.chr3:100489739G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2456C>T	3.37:g.100489739G>A	ENSP00000284322:p.Ser819Phe					ABI3BP_ENST00000383691.4_Missense_Mutation_p.S773F|ABI3BP_ENST00000284322.5_Missense_Mutation_p.S819F	p.S1521F			Q7Z7G0	TARSH_HUMAN			61	4671	-			819					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4562C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118141	0.94385	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	T;T;T	0.31247	1.79;1.51;1.5	5.98	5.98	0.97165	.	0.051515	0.85682	D	0.000000	T	0.55657	0.1934	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;D;D;D	0.79108	0.949;0.943;0.992;0.981	T	0.53151	-0.8479	10	0.87932	D	0	-5.8317	20.4366	0.99092	0.0:0.0:1.0:0.0	.	773;819;1521;528	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	F	1521;819;528;230;773;231	ENSP00000420524:S1521F;ENSP00000284322:S819F;ENSP00000373189:S773F	ENSP00000284322:S819F	S	-	2	0	ABI3BP	101972429	1.000000	0.71417	0.773000	0.31616	0.957000	0.61999	9.167000	0.94773	2.837000	0.97791	0.591000	0.81541	TCT		0.532	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			39	63	0	0	0	1	0	39	63				
KCNK16	83795	broad.mit.edu	37	6	39285629	39285629	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39285629A>G	ENST00000373229.5	-	3	441	c.428T>C	c.(427-429)cTg>cCg	p.L143P	KCNK16_ENST00000373227.4_Missense_Mutation_p.L143P|KCNK16_ENST00000507712.1_Missense_Mutation_p.L78P|KCNK16_ENST00000425054.2_Missense_Mutation_p.L143P|KCNK16_ENST00000437525.2_Missense_Mutation_p.L143P	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	143					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCTGTGCCCAGGTGGTTGAG	0.602																																						ENST00000425054.2																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(427-429)cTg>cCg		potassium channel, subfamily K, member 16							54.0	46.0	49.0					6																	39285629		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39285629A>G	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.428T>C	6.37:g.39285629A>G	ENSP00000362326:p.Leu143Pro					KCNK16_ENST00000373229.5_Missense_Mutation_p.L143P|KCNK16_ENST00000373227.4_Missense_Mutation_p.L143P|KCNK16_ENST00000437525.2_Missense_Mutation_p.L143P|KCNK16_ENST00000507712.1_Missense_Mutation_p.L78P	p.L143P	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN			3	427	-			143					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.428T>C	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465754	0.84425	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.65	5.65	0.86999	Ion transport 2 (1);	0.188409	0.36234	N	0.002706	T	0.57519	0.2059	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.79784	0.993;0.993;0.988;0.99	T	0.69327	-0.5174	10	0.87932	D	0	.	15.538	0.76018	1.0:0.0:0.0:0.0	.	143;143;143;143	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	P	143;143;78;143;143	ENSP00000362326:L143P;ENSP00000391498:L143P;ENSP00000423842:L78P;ENSP00000362324:L143P;ENSP00000415375:L143P	ENSP00000362324:L143P	L	-	2	0	KCNK16	39393607	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.194000	0.72082	2.154000	0.67381	0.459000	0.35465	CTG		0.602	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		3	9	0	0	0	1	0	3	9				
IRF1	3659	broad.mit.edu	37	5	131822515	131822515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131822515C>T	ENST00000245414.4	-	5	644	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Missense_Mutation_p.R129Q	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	129					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CTTAGCATCTCGGCTGGACTT	0.592																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(385-387)cGa>cAa		interferon regulatory factor 1							262.0	206.0	225.0					5																	131822515		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822515C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.386G>A	5.37:g.131822515C>T	ENSP00000245414:p.Arg129Gln					IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Missense_Mutation_p.R129Q	p.R129Q	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	5	644	-		all_cancers(142;0.026)|Breast(839;0.198)	129					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.386G>A	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373983	0.61735	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.98889	-5.21;-5.21;-5.14;-5.17	5.96	3.65	0.41850	.	0.687089	0.14830	N	0.295900	D	0.97028	0.9029	L	0.59436	1.845	0.45676	D	0.998591	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	D	0.95933	0.8940	10	0.45353	T	0.12	-4.3454	11.5012	0.50439	0.0:0.8339:0.0:0.1661	.	129;129	Q5FBX3;P10914	.;IRF1_HUMAN	Q	129	ENSP00000245414:R129Q;ENSP00000384406:R129Q;ENSP00000405655:R129Q;ENSP00000396318:R129Q	ENSP00000245414:R129Q	R	-	2	0	IRF1	131850414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.055000	0.30467	1.361000	0.45981	0.655000	0.94253	CGA		0.592	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		31	66	0	0	0	1	0	31	66				
SYNM	23336	broad.mit.edu	37	15	99671904	99671904	+	Missense_Mutation	SNP	G	G	T	rs200087412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99671904G>T	ENST00000560674.1	+	4	2950	c.2481G>T	c.(2479-2481)caG>caT	p.Q827H	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.Q1112H|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.Q1112H			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1113	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCTTTGCCCAGTCACAGGTGC	0.622																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(3334-3336)caG>caT		synemin, intermediate filament protein							19.0	21.0	21.0					15																	99671904		2077	4225	6302	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99671904G>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2481G>T	15.37:g.99671904G>T	ENSP00000453040:p.Gln827His					SYNM_ENST00000560674.1_Missense_Mutation_p.Q827H|SYNM_ENST00000328642.7_Missense_Mutation_p.Q1112H|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	p.Q1112H	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	3456	+			1113			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.3336G>T		.	.	.	.	.	.	.	.	.	.	G	10.73	1.433909	0.25813	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.85088	-1.81;-1.94	5.5	2.19	0.27852	.	.	.	.	.	T	0.70894	0.3276	.	.	.	0.28083	N	0.932112	B;B	0.14012	0.009;0.006	B;B	0.15870	0.014;0.007	T	0.57528	-0.7796	8	0.33141	T	0.24	.	0.8109	0.01093	0.2332:0.2027:0.3855:0.1786	.	1113;1112	O15061;C9JIE4	SYNEM_HUMAN;.	H	1112	ENSP00000336775:Q1112H;ENSP00000330469:Q1112H	ENSP00000330469:Q1112H	Q	+	3	2	SYNM	97489427	0.112000	0.22096	0.541000	0.28102	0.535000	0.34838	0.573000	0.23699	0.668000	0.31126	0.655000	0.94253	CAG		0.622	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		3	9	1	0	0.004672	1	0.0049138	3	9				
TMX4	56255	broad.mit.edu	37	20	7980487	7980487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:7980487C>T	ENST00000246024.2	-	4	574	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	120	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ACGATAACGGCGGAATATCCC	0.388																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(358-360)cGc>cAc		thioredoxin-related transmembrane protein 4							58.0	59.0	59.0					20																	7980487		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7980487C>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.359G>A	20.37:g.7980487C>T	ENSP00000246024:p.Arg120His					TMX4_ENST00000530935.1_5'UTR	p.R120H	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			4	574	-			120			Thioredoxin.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.359G>A	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.973074	0.92919	.	.	ENSG00000125827	ENST00000246024	T	0.73575	-0.76	5.74	5.74	0.90152	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.061075	0.64402	D	0.000003	D	0.86594	0.5970	M	0.78916	2.43	0.58432	D	0.999996	D	0.89917	1.0	D	0.78314	0.991	D	0.85743	0.1338	10	0.44086	T	0.13	-8.7057	18.7065	0.91640	0.0:1.0:0.0:0.0	.	120	Q9H1E5	TMX4_HUMAN	H	120	ENSP00000246024:R120H	ENSP00000246024:R120H	R	-	2	0	TMX4	7928487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.636000	0.67848	2.703000	0.92315	0.655000	0.94253	CGC		0.388	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		20	40	0	0	0	1	0	20	40				
L1CAM	3897	broad.mit.edu	37	X	153134067	153134067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153134067C>T	ENST00000370060.1	-	13	1684	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	L1CAM_ENST00000361699.4_Missense_Mutation_p.A499T|L1CAM_ENST00000538883.1_Missense_Mutation_p.A501T|L1CAM_ENST00000543994.1_Missense_Mutation_p.A501T|L1CAM_ENST00000361981.3_Missense_Mutation_p.A494T|L1CAM_ENST00000370057.3_Missense_Mutation_p.A499T|L1CAM_ENST00000370055.1_Missense_Mutation_p.A494T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	499	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGGCAGCCAGGCAGAAG	0.557																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1495-1497)Gct>Act		L1 cell adhesion molecule							134.0	98.0	110.0					X																	153134067		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134067C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1495G>A	X.37:g.153134067C>T	ENSP00000359077:p.Ala499Thr					L1CAM_ENST00000361981.3_Missense_Mutation_p.A494T|L1CAM_ENST00000370057.3_Missense_Mutation_p.A499T|L1CAM_ENST00000370055.1_Missense_Mutation_p.A494T|L1CAM_ENST00000361699.4_Missense_Mutation_p.A499T|L1CAM_ENST00000543994.1_Missense_Mutation_p.A501T|L1CAM_ENST00000538883.1_Missense_Mutation_p.A501T	p.A499T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			13	1684	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		499			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1495G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330254	0.95733	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	D	0.89795	0.6818	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.91453	0.5183	10	0.87932	D	0	.	17.3864	0.87417	0.0:1.0:0.0:0.0	.	494;499;499	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	T	499;501;499;501;494;494;499	ENSP00000359077:A499T;ENSP00000438430:A501T;ENSP00000359074:A499T;ENSP00000439645:A501T;ENSP00000354712:A494T;ENSP00000359072:A494T;ENSP00000355380:A499T	ENSP00000355380:A499T	A	-	1	0	L1CAM	152787261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.775000	0.62346	2.374000	0.81015	0.529000	0.55759	GCT		0.557	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		22	44	0	0	0	1	0	22	44				
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	G	C	rs375320861		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38899416G>C	ENST00000252530.5	+	8	963	c.944G>C	c.(943-945)cGg>cCg	p.R315P	FAM98C_ENST00000588262.1_Silent_p.P181P|FAM98C_ENST00000343358.7_Missense_Mutation_p.R233P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)cGg>cCg		family with sequence similarity 98, member C		G	PRO/ARG	0,3664		0,0,1832	57.0	62.0	61.0		944	5.9	1.0	19		61	2,8142		0,2,4070	no	missense	FAM98C	NM_174905.3	103	0,2,5902	CC,CG,GG		0.0246,0.0,0.0169	probably-damaging	315/350	38899416	2,11806	1832	4072	5904	SO:0001583	missense	147965							g.chr19:38899416G>C		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.944G>C	19.37:g.38899416G>C	ENSP00000252530:p.Arg315Pro					FAM98C_ENST00000588262.1_Silent_p.P181P|FAM98C_ENST00000343358.7_Missense_Mutation_p.R233P	p.R315P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.944G>C	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575881	0.86645	0.0	2.46E-4	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.60171	0.21;0.21	5.92	5.92	0.95590	.	3.077830	0.01239	N	0.008560	D	0.84120	0.5402	M	0.86864	2.845	0.37902	D	0.931081	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68405	-0.5417	10	0.87932	D	0	-15.9732	17.8152	0.88630	0.0:0.0:1.0:0.0	.	233;315	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	P	315;233	ENSP00000252530:R315P;ENSP00000340348:R233P	ENSP00000252530:R315P	R	+	2	0	FAM98C	43591256	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.524000	0.53495	2.804000	0.96469	0.655000	0.94253	CGG		0.562	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		9	61	0	0	0	1	0	9	61				
SEPT8	23176	broad.mit.edu	37	5	132099458	132099458	+	Silent	SNP	C	C	T	rs181188648		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132099458C>T	ENST00000378719.2	-	4	711	c.474G>A	c.(472-474)acG>acA	p.T158T	SEPT8_ENST00000378706.1_Silent_p.T158T|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000458488.2_Silent_p.T158T|SEPT8_ENST00000378699.2_Silent_p.T98T|SEPT8_ENST00000448933.1_Silent_p.T98T|SEPT8_ENST00000378701.1_Silent_p.T156T|SEPT8_ENST00000378721.4_Silent_p.T156T|SEPT8_ENST00000296873.7_Silent_p.T158T	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	158	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCTGTGGGCGTGATGAAGT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19929	0.001		0.0	False		,,,				2504	0.0					ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(472-474)acG>acA		septin 8		C	,,,	0,4070		0,0,2035	190.0	193.0	192.0		474,474,294,474	-10.2	0.2	5		192	1,8421		0,1,4210	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT8	NM_001098811.1,NM_001098812.1,NM_001098813.1,NM_015146.1	,,,	0,1,6245	TT,TC,CC		0.0119,0.0,0.0080	,,,	158/484,158/443,98/370,158/430	132099458	1,12491	2035	4211	6246	SO:0001819	synonymous_variant	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099458C>T	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.474G>A	5.37:g.132099458C>T						SEPT8_ENST00000458488.2_Silent_p.T158T|SEPT8_ENST00000378719.2_Silent_p.T158T|SEPT8_ENST00000378706.1_Silent_p.T158T|SEPT8_ENST00000378721.4_Silent_p.T156T|SEPT8_ENST00000448933.1_Silent_p.T98T|SEPT8_ENST00000378699.2_Silent_p.T98T|SEPT8_ENST00000378701.1_Silent_p.T156T	p.T158T	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	757	-		all_cancers(142;0.0751)|Breast(839;0.198)	158					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	37	c.474G>A	CCDS43358.1																																																																																				0.517	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		73	134	0	0	0	1	0	73	134				
KCNH6	81033	broad.mit.edu	37	17	61601540	61601540	+	Silent	SNP	C	C	T	rs140752880		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61601540C>T	ENST00000583023.1	+	2	128	c.117C>T	c.(115-117)tgC>tgT	p.C39C	KCNH6_ENST00000456941.2_Silent_p.C39C|KCNH6_ENST00000580652.1_Silent_p.C39C|KCNH6_ENST00000314672.5_Silent_p.C39C|KCNH6_ENST00000581784.1_Silent_p.C39C	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	39					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGAGAACTGCGCCATCATTT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20993	0.0		0.0	False		,,,				2504	0.001					ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(115-117)tgC>tgT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)	C	,	0,4406		0,0,2203	226.0	209.0	215.0		117,117	-1.4	1.0	17	dbSNP_134	215	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	KCNH6	NM_030779.2,NM_173092.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	39/995,39/906	61601540	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61601540C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.117C>T	17.37:g.61601540C>T						KCNH6_ENST00000314672.5_Silent_p.C39C|KCNH6_ENST00000581784.1_Silent_p.C39C|KCNH6_ENST00000580652.1_Silent_p.C39C|KCNH6_ENST00000456941.2_Silent_p.C39C	p.C39C	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			2	128	+			39					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.117C>T	CCDS11638.1																																																																																				0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		8	179	0	0	0	1	0	8	179				
HIPK4	147746	broad.mit.edu	37	19	40890006	40890006	+	Missense_Mutation	SNP	C	C	T	rs201085696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40890006C>T	ENST00000291823.2	-	2	790	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTCACGTAGCGCACCTCGCT	0.642																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(505-507)cGc>cAc		homeodomain interacting protein kinase 4							60.0	58.0	59.0					19																	40890006		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40890006C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.506G>A	19.37:g.40890006C>T	ENSP00000291823:p.Arg169His						p.R169H	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	790	-			169			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.506G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712377	0.89112	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.65916	-0.18	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000022	T	0.74053	0.3666	L	0.43598	1.365	0.42742	D	0.993746	D	0.89917	1.0	D	0.87578	0.998	T	0.75619	-0.3255	10	0.87932	D	0	.	17.0602	0.86546	0.0:1.0:0.0:0.0	.	169	Q8NE63	HIPK4_HUMAN	H	169;134	ENSP00000291823:R169H	ENSP00000291823:R169H	R	-	2	0	HIPK4	45581846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.212000	0.51145	2.769000	0.95229	0.563000	0.77884	CGC		0.642	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		29	36	0	0	0	1	0	29	36				
MAB21L2	10586	broad.mit.edu	37	4	151504913	151504913	+	Silent	SNP	C	C	T	rs370311233		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504913C>T	ENST00000317605.4	+	1	1837	c.732C>T	c.(730-732)ggC>ggT	p.G244G	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	244					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGATGGGCGGCTGCCGAA	0.637																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(730-732)ggC>ggT		mab-21-like 2 (C. elegans)							33.0	36.0	35.0					4																	151504913		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504913C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.732C>T	4.37:g.151504913C>T						LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron	p.G244G	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1837	+	all_hematologic(180;0.151)		244					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.732C>T	CCDS3774.1																																																																																				0.637	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		7	24	0	0	0	1	0	7	24				
HSP90B1	7184	broad.mit.edu	37	12	104337581	104337581	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104337581C>T	ENST00000299767.5	+	14	2138	c.1956C>T	c.(1954-1956)taC>taT	p.Y652Y		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	652					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCAGCCAGTACGGATGGTCTG	0.473																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1954-1956)taC>taT		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						80.0	69.0	73.0					12																	104337581		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104337581C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1956C>T	12.37:g.104337581C>T							p.Y652Y	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			14	2138	+			652					Q96A97	Silent	SNP	ENST00000299767.5	37	c.1956C>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	C	7.363	0.625207	0.14257	.	.	ENSG00000166598	ENST00000550595	.	.	.	5.59	-7.63	0.01290	.	.	.	.	.	T	0.66356	0.2781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71115	-0.4686	4	.	.	.	.	19.4398	0.94813	0.0:0.2747:0.0:0.7253	.	.	.	.	M	3	.	.	T	+	2	0	HSP90B1	102861711	0.001000	0.12720	0.283000	0.24790	0.925000	0.55904	-1.440000	0.02412	-1.935000	0.01049	-1.934000	0.00508	ACG		0.473	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		15	17	0	0	0	1	0	15	17				
GAL3ST4	79690	broad.mit.edu	37	7	99757975	99757975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99757975C>T	ENST00000360039.4	-	4	1429	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S284N|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S346N|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	346					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCAGTCCACTGTTGCTGAC	0.612																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1036-1038)aGt>aAt		galactose-3-O-sulfotransferase 4							63.0	63.0	63.0					7																	99757975		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757975C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1037G>A	7.37:g.99757975C>T	ENSP00000353142:p.Ser346Asn					GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S284N|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S346N|GAL3ST4_ENST00000411994.1_3'UTR	p.S346N	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1429	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		346					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1037G>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.351659	0.01256	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.15834	2.39;2.39;2.39	4.75	0.643	0.17770	.	1.621420	0.03351	U	0.196274	T	0.19805	0.0476	L	0.49126	1.545	0.09310	N	1	B;B	0.27013	0.166;0.033	B;B	0.28916	0.096;0.037	T	0.38779	-0.9645	10	0.20519	T	0.43	0.5591	11.3683	0.49686	0.0:0.4375:0.4842:0.0783	.	284;346	B4DWL8;Q96RP7	.;G3ST4_HUMAN	N	346;346;284	ENSP00000400451:S346N;ENSP00000353142:S346N;ENSP00000398304:S284N	ENSP00000353142:S346N	S	-	2	0	GAL3ST4	99595911	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.312000	0.08113	-0.034000	0.13713	-1.560000	0.00886	AGT		0.612	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		49	41	0	0	0	1	0	49	41				
TTN	7273	broad.mit.edu	37	2	179616403	179616403	+	Intron	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179616403G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S3575Y			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACTTCCAGAATCTCTGTC	0.403																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10723-10725)tCt>tAt		titin							80.0	85.0	83.0					2																	179616403		2201	4299	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616403G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1447C>A	2.37:g.179616403G>T						TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	p.S3575Y	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10946	-			3570			Ig-like 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10724C>A		.	.	.	.	.	.	.	.	.	.	G	16.89	3.247521	0.59103	.	.	ENSG00000155657	ENST00000360870	T	0.69685	-0.42	5.76	5.76	0.90799	.	.	.	.	.	D	0.84768	0.5545	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.87002	0.2117	9	0.87932	D	0	.	19.5552	0.95342	0.0:0.0:1.0:0.0	.	3575	Q8WZ42-6	.	Y	3575	ENSP00000354117:S3575Y	ENSP00000354117:S3575Y	S	-	2	0	TTN	179324648	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	9.802000	0.99131	2.720000	0.93068	0.655000	0.94253	TCT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	126	1	0	1.49906e-05	1	1.69169e-05	14	126				
TMEM47	83604	broad.mit.edu	37	X	34657422	34657422	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34657422G>T	ENST00000275954.3	-	2	567	c.309C>A	c.(307-309)atC>atA	p.I103I		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	103						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCCACGCAGATAGAAATCA	0.428																																						ENST00000275954.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(307-309)atC>atA		transmembrane protein 47							79.0	66.0	70.0					X																	34657422		2202	4300	6502	SO:0001819	synonymous_variant	83604					integral to membrane		g.chrX:34657422G>T	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.309C>A	X.37:g.34657422G>T							p.I103I	NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN			2	567	-			103					Q5JR44	Silent	SNP	ENST00000275954.3	37	c.309C>A	CCDS14235.1																																																																																				0.428	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		3	6	1	0	0.00024832	1	0.0002712	3	6				
PMEL	6490	broad.mit.edu	37	12	56351722	56351722	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351722C>A	ENST00000548747.1	-	5	1278	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S	PMEL_ENST00000550447.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000552882.1_Missense_Mutation_p.A206S|PMEL_ENST00000360714.4_Missense_Mutation_p.A206S|PMEL_ENST00000548493.1_Missense_Mutation_p.A206S|PMEL_ENST00000539511.1_Missense_Mutation_p.A120S|PMEL_ENST00000550464.1_Missense_Mutation_p.A120S|PMEL_ENST00000449260.2_Missense_Mutation_p.A206S|PMEL_ENST00000536427.1_Missense_Mutation_p.A206S			P40967	PMEL_HUMAN	premelanosome protein	206					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGTGAAGGCTGAGCTGGAA	0.557																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(616-618)Gcc>Tcc		premelanosome protein							80.0	71.0	74.0					12																	56351722		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351722C>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.616G>T	12.37:g.56351722C>A	ENSP00000448828:p.Ala206Ser					PMEL_ENST00000548493.1_Missense_Mutation_p.A206S|PMEL_ENST00000449260.2_Missense_Mutation_p.A206S|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Missense_Mutation_p.A206S|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.A120S|PMEL_ENST00000552882.1_Missense_Mutation_p.A206S|PMEL_ENST00000536427.1_Missense_Mutation_p.A206S|PMEL_ENST00000539511.1_Missense_Mutation_p.A120S	p.A206S			P40967	PMEL_HUMAN			5	1278	-			206					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.616G>T	CCDS8897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.98|12.98	2.099950|2.099950	0.37048|0.37048	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000546543|ENST00000549404	T;T;T;T;T;T;T;T;T|T	0.11712|0.08720	3.11;3.11;3.11;3.11;3.11;3.11;2.75;3.11;3.09|3.06	4.68|4.68	1.74|1.74	0.24563|0.24563	.|.	0.680277|.	0.13576|.	N|.	0.377710|.	T|T	0.08802|0.08802	0.0218|0.0218	L|L	0.44542|0.44542	1.39|1.39	0.22142|0.22142	N|N	0.999337|0.999337	B;B;B|.	0.18610|.	0.026;0.029;0.017|.	B;B;B|.	0.16289|.	0.015;0.01;0.007|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|7	0.51188|0.59425	T|D	0.08|0.04	0.8322|0.8322	2.1094|2.1094	0.03699|0.03699	0.1744:0.5051:0.1389:0.1815|0.1744:0.5051:0.1389:0.1815	.|.	120;206;206|.	P40967-3;P40967-2;P40967|.	.;.;PMEL_HUMAN|.	S|I	206;206;120;206;206;206;206;120;157|93	ENSP00000402758:A206S;ENSP00000449690:A206S;ENSP00000450036:A120S;ENSP00000448828:A206S;ENSP00000447374:A206S;ENSP00000353940:A206S;ENSP00000438695:A206S;ENSP00000445005:A120S;ENSP00000446662:A157S|ENSP00000449520:S93I	ENSP00000353940:A206S|ENSP00000449520:S93I	A|S	-|-	1|2	0|0	PMEL|PMEL	54637989|54637989	0.443000|0.443000	0.25641|0.25641	0.935000|0.935000	0.37517|0.37517	0.772000|0.772000	0.43724|0.43724	0.396000|0.396000	0.20867|0.20867	0.391000|0.391000	0.25143|0.25143	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.557	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		22	38	1	0	8.10497e-08	1	9.61437e-08	22	38				
PDE4DIP	9659	broad.mit.edu	37	1	144871856	144871856	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871856C>A	ENST00000369354.3	-	32	5295	c.5106G>T	c.(5104-5106)aaG>aaT	p.K1702N	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K1838N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1787N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1702N|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1702					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTAGCCAGCTTGGGTATGG	0.488			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(5512-5514)aaG>aaT		phosphodiesterase 4D interacting protein							80.0	84.0	83.0					1																	144871856		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871856C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5106G>T	1.37:g.144871856C>A	ENSP00000358360:p.Lys1702Asn					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1787N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1702N|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1702N	p.K1838N			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	35	5552	-			1702					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5514G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793331	0.31685	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01599	4.74;4.74;4.75;4.74	5.7	3.64	0.41730	.	.	.	.	.	T	0.00524	0.0017	L	0.43152	1.355	0.80722	D	1	B	0.32245	0.361	B	0.24541	0.054	T	0.55742	-0.8093	9	0.17369	T	0.5	.	3.6374	0.08154	0.1601:0.5891:0.1552:0.0957	.	1702	Q5VU43	MYOME_HUMAN	N	1702;1702;1787;1838	ENSP00000358360:K1702N;ENSP00000358363:K1702N;ENSP00000435654:K1787N;ENSP00000358366:K1838N	ENSP00000358360:K1702N	K	-	3	2	PDE4DIP	143583213	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	0.913000	0.28611	0.513000	0.28278	0.650000	0.86243	AAG		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		26	70	1	0	4.72057e-08	1	5.61655e-08	26	70				
CAND1	55832	broad.mit.edu	37	12	67675766	67675766	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67675766G>T	ENST00000545606.1	+	2	582	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	49					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAAAGGAAAGTAGTGAAAAT	0.313																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(145-147)Gta>Tta		cullin-associated and neddylation-dissociated 1							140.0	144.0	143.0					12																	67675766		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67675766G>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.145G>T	12.37:g.67675766G>T	ENSP00000442318:p.Val49Leu						p.V49L	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	2	582	+			49					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.145G>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076238	0.94000	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540525	T;T	0.60548	0.18;0.18	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.71971	-0.4431	9	.	.	.	-15.0882	19.8095	0.96541	0.0:0.0:1.0:0.0	.	49	Q86VP6	CAND1_HUMAN	L	49;49;25	ENSP00000442318:V49L;ENSP00000437594:V25L	.	V	+	1	0	CAND1	65962033	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.624000	0.98398	2.775000	0.95449	0.650000	0.86243	GTA		0.313	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	65	1	0	1.12685e-05	1	1.27857e-05	7	65				
ATP2C2	9914	broad.mit.edu	37	16	84444186	84444186	+	Missense_Mutation	SNP	G	G	A	rs373471007		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84444186G>A	ENST00000262429.4	+	5	519	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.V144M	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	144					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTGCTTGTCGTGGTCACTGT	0.582																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(430-432)Gtg>Atg		ATPase, Ca++ transporting, type 2C, member 2							110.0	107.0	108.0					16																	84444186		2059	4213	6272	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84444186G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.430G>A	16.37:g.84444186G>A	ENSP00000262429:p.Val144Met					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.V144M	p.V144M			O75185	AT2C2_HUMAN			5	519	+			144					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.430G>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.791087	0.50102	.	.	ENSG00000064270	ENST00000416219;ENST00000262429	D;D	0.89343	-2.5;-2.5	4.57	4.57	0.56435	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.341662	0.24278	N	0.039927	D	0.94496	0.8228	M	0.86651	2.83	0.47214	D	0.99935	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.987;1.0;1.0	D	0.94438	0.7656	10	0.48119	T	0.1	.	12.8442	0.57821	0.0:0.0:1.0:0.0	.	144;161;144	E7ES94;O75185-2;O75185	.;.;AT2C2_HUMAN	M	144	ENSP00000397925:V144M;ENSP00000262429:V144M	ENSP00000262429:V144M	V	+	1	0	ATP2C2	83001687	1.000000	0.71417	0.987000	0.45799	0.155000	0.21991	6.638000	0.74309	2.090000	0.63153	0.585000	0.79938	GTG		0.582	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		26	67	0	0	0	1	0	26	67				
SIRT7	51547	broad.mit.edu	37	17	79872022	79872022	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79872022G>T	ENST00000328666.6	-	8	900	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000570388.1_5'Flank|PCYT2_ENST00000570391.1_5'Flank|PCYT2_ENST00000331285.3_5'Flank|PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	280	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATGCACCAGAGGCGTGGGTAC	0.582																																						ENST00000328666.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(838-840)Ctc>Atc		sirtuin 7							70.0	71.0	70.0					17																	79872022		2203	4300	6503	SO:0001583	missense	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79872022G>T	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.838C>A	17.37:g.79872022G>T	ENSP00000329466:p.Leu280Ile						p.L280I	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		8	900	-	all_neural(118;0.0878)|Ovarian(332;0.12)		280			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	c.838C>A	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881750	0.72294	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.17054	2.3	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.84433	2.695	0.80722	D	1	P;D	0.89917	0.931;1.0	P;D	0.76071	0.766;0.987	T	0.40136	-0.9579	10	0.46703	T	0.11	-16.2186	11.5031	0.50450	0.0867:0.0:0.9133:0.0	.	280;280	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	I	280;263	ENSP00000329466:L280I	ENSP00000329466:L280I	L	-	1	0	SIRT7	77465314	1.000000	0.71417	0.926000	0.36857	0.956000	0.61745	4.904000	0.63279	2.226000	0.72624	0.549000	0.68633	CTC		0.582	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		18	42	1	0	3.52763e-06	1	4.04633e-06	18	42				
ZFHX3	463	broad.mit.edu	37	16	72992774	72992774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992774G>T	ENST00000268489.5	-	2	1943	c.1271C>A	c.(1270-1272)gCt>gAt	p.A424D	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	424					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGACTGGAAGCCAGAGGCCC	0.607																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(1270-1272)gCt>gAt		zinc finger homeobox 3							70.0	84.0	79.0					16																	72992774		2197	4293	6490	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992774G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1271C>A	16.37:g.72992774G>T	ENSP00000268489:p.Ala424Asp					ZFHX3_ENST00000397992.5_Intron	p.A424D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1943	-		Ovarian(137;0.13)	424					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1271C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	7.486	0.649595	0.14516	.	.	ENSG00000140836	ENST00000268489	T	0.74106	-0.81	4.91	3.94	0.45596	.	0.000000	0.48286	D	0.000181	T	0.64972	0.2647	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	P	0.52672	0.706	T	0.67288	-0.5708	10	0.36615	T	0.2	.	13.7762	0.63055	0.0759:0.0:0.9241:0.0	.	424	Q15911	ZFHX3_HUMAN	D	424	ENSP00000268489:A424D	ENSP00000268489:A424D	A	-	2	0	ZFHX3	71550275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.772000	0.55325	1.179000	0.42884	0.585000	0.79938	GCT		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		64	104	1	0	1.02487e-32	1	1.37563e-32	64	104				
FGL1	2267	broad.mit.edu	37	8	17739544	17739544	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17739544T>C	ENST00000398056.2	-	5	1023	c.208A>G	c.(208-210)Act>Gct	p.T70A	FGL1_ENST00000381841.2_Missense_Mutation_p.T70A|FGL1_ENST00000427924.1_Missense_Mutation_p.T70A|FGL1_ENST00000381840.2_Missense_Mutation_p.T70A|FGL1_ENST00000518650.1_Missense_Mutation_p.T70A|FGL1_ENST00000398054.1_Missense_Mutation_p.T70A|RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000522444.1_Missense_Mutation_p.T70A			Q08830	FGL1_HUMAN	fibrinogen-like 1	70					adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCAATGACAGTATTCTCATCT	0.443																																						ENST00000398056.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(208-210)Act>Gct		fibrinogen-like 1							130.0	120.0	123.0					8																	17739544		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17739544T>C	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.208A>G	8.37:g.17739544T>C	ENSP00000381133:p.Thr70Ala					FGL1_ENST00000518650.1_Missense_Mutation_p.T70A|FGL1_ENST00000427924.1_Missense_Mutation_p.T70A|FGL1_ENST00000398054.1_Missense_Mutation_p.T70A|FGL1_ENST00000381841.2_Missense_Mutation_p.T70A|FGL1_ENST00000381840.2_Missense_Mutation_p.T70A|FGL1_ENST00000522444.1_Missense_Mutation_p.T70A	p.T70A			Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	5	1023	-			70					A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.208A>G	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	T	0.714	-0.785907	0.02907	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.8	1.78	0.24846	.	1.677590	0.02622	N	0.103313	T	0.31420	0.0796	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22941	-1.0202	10	0.36615	T	0.2	.	9.5676	0.39409	0.0:0.2997:0.0:0.7003	.	40;70;70	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	A	70;70;40;70;70;70;70;70;70	ENSP00000381133:T70A;ENSP00000429757:T70A;ENSP00000371263:T70A;ENSP00000401952:T70A;ENSP00000381131:T70A;ENSP00000371262:T70A;ENSP00000428430:T70A	ENSP00000221204:T70A	T	-	1	0	FGL1	17783824	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	1.414000	0.34736	0.548000	0.28955	0.524000	0.50904	ACT		0.443	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		30	49	0	0	0	1	0	30	49				
ZNF831	128611	broad.mit.edu	37	20	57768129	57768129	+	Silent	SNP	C	C	T	rs372130636	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57768129C>T	ENST00000371030.2	+	1	2055	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	685							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACATATCCGCAGGGGCAA	0.622													.|||	4	0.000798722	0.003	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0					ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2053-2055)tcC>tcT		zinc finger protein 831		C		8,4092		0,8,2042	30.0	38.0	36.0		2055	-8.6	0.0	20		36	0,8376		0,0,4188	no	coding-synonymous	ZNF831	NM_178457.1		0,8,6230	TT,TC,CC		0.0,0.1951,0.0641		685/1678	57768129	8,12468	2050	4188	6238	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768129C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2055C>T	20.37:g.57768129C>T							p.S685S	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2055	+	all_lung(29;0.0085)		685					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2055C>T	CCDS42894.1																																																																																				0.622	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	15	0	0	0	1	0	5	15				
HERC5	51191	broad.mit.edu	37	4	89410380	89410380	+	Missense_Mutation	SNP	G	G	A	rs376568622		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89410380G>A	ENST00000264350.3	+	16	2179	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T	HERC5_ENST00000508159.1_Missense_Mutation_p.A314T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	676					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTCTGAATTCGCTTTGAGGCC	0.368																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2026-2028)Gct>Act		HECT and RLD domain containing E3 ubiquitin protein ligase 5		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	165.0	168.0	167.0		2026	-5.9	0.0	4		167	0,8600		0,0,4300	no	missense	HERC5	NM_016323.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	676/1025	89410380	1,13005	2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89410380G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2026G>A	4.37:g.89410380G>A	ENSP00000264350:p.Ala676Thr					HERC5_ENST00000508159.1_Missense_Mutation_p.A314T	p.A676T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	16	2179	+		Hepatocellular(203;0.114)	676					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2026G>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259312	0.23051	2.27E-4	0.0	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.43294	0.95;0.95	4.99	-5.91	0.02269	HECT (1);	1.775710	0.03278	N	0.185746	T	0.27241	0.0668	L	0.44542	1.39	0.09310	N	1	B	0.18968	0.032	B	0.15052	0.012	T	0.08371	-1.0725	10	0.26408	T	0.33	.	0.5079	0.00590	0.2716:0.2994:0.1606:0.2685	.	676	Q9UII4	HERC5_HUMAN	T	676;314	ENSP00000264350:A676T;ENSP00000424129:A314T	ENSP00000264350:A676T	A	+	1	0	HERC5	89629403	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.481000	0.02323	-1.315000	0.02297	-0.910000	0.02820	GCT		0.368	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		48	72	0	0	0	1	0	48	72				
TNC	3371	broad.mit.edu	37	9	117825213	117825213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117825213G>A	ENST00000350763.4	-	13	4427	c.4016C>T	c.(4015-4017)gCt>gTt	p.A1339V	TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1339V|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1339	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCTCTACAGCAAGGGGTCG	0.567																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(4015-4017)gCt>gTt		tenascin C							39.0	34.0	36.0					9																	117825213		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117825213G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4016C>T	9.37:g.117825213G>A	ENSP00000265131:p.Ala1339Val					TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1339V|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000535648.1_Intron	p.A1339V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			13	4427	-			1339			Fibronectin type-III 8.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4016C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283715	0.10458	.	.	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.04234	3.67;3.67	5.16	2.23	0.28157	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.503826	0.22929	N	0.053937	T	0.02083	0.0065	N	0.03608	-0.345	0.37316	D	0.909343	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.48127	-0.9062	10	0.49607	T	0.09	.	4.1234	0.10116	0.2773:0.0:0.5633:0.1594	.	1339;1339	E9PC84;P24821	.;TENA_HUMAN	V	1339	ENSP00000265131:A1339V;ENSP00000411406:A1339V	ENSP00000265131:A1339V	A	-	2	0	TNC	116865034	0.000000	0.05858	0.045000	0.18777	0.287000	0.27160	0.147000	0.16202	0.240000	0.21263	0.655000	0.94253	GCT		0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		11	12	0	0	0	1	0	11	12				
LSS	4047	broad.mit.edu	37	21	47635159	47635159	+	Missense_Mutation	SNP	C	C	T	rs371221726		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47635159C>T	ENST00000397728.3	-	9	1024	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	LSS_ENST00000464357.1_5'Flank|LSS_ENST00000356396.4_Missense_Mutation_p.V316M|LSS_ENST00000457828.2_Missense_Mutation_p.V236M|LSS_ENST00000522411.1_Missense_Mutation_p.V305M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	316					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGCTTCTGCACGGCCCGCTGC	0.637																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(946-948)Gtg>Atg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	72.0	61.0	65.0		946,913,706,946	-11.0	0.0	21		65	0,8598		0,0,4299	no	missense,missense,missense,missense	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	21,21,21,21	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	316/733,305/722,236/653,316/733	47635159	1,13003	2203	4299	6502	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47635159C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.946G>A	21.37:g.47635159C>T	ENSP00000380837:p.Val316Met					LSS_ENST00000356396.4_Missense_Mutation_p.V316M|LSS_ENST00000522411.1_Missense_Mutation_p.V305M|LSS_ENST00000457828.2_Missense_Mutation_p.V236M	p.V316M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			9	1024	-	Breast(49;0.214)		316					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.946G>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436278	0.25813	2.27E-4	0.0	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.51	-11.0	0.00169	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	1.129790	0.06401	N	0.718828	T	0.19644	0.0472	L	0.31420	0.93	0.09310	N	1	D;P	0.53885	0.963;0.938	B;B	0.41299	0.353;0.144	T	0.41305	-0.9516	10	0.51188	T	0.08	.	7.6129	0.28142	0.076:0.5388:0.1535:0.2317	.	305;316	E9PEI9;P48449	.;ERG7_HUMAN	M	316;236;316;305	ENSP00000348762:V316M;ENSP00000409191:V236M;ENSP00000380837:V316M;ENSP00000429133:V305M	ENSP00000348762:V316M	V	-	1	0	LSS	46459587	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.335000	0.02662	-1.861000	0.01153	-0.284000	0.09977	GTG		0.637	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			4	45	0	0	0	1	0	4	45				
PRRC2C	23215	broad.mit.edu	37	1	171509384	171509384	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171509384G>A	ENST00000338920.4	+	16	3010	c.2773G>A	c.(2773-2775)Gtt>Att	p.V925I	PRRC2C_ENST00000367742.3_Missense_Mutation_p.V927I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V925I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.V927I	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	925					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GAAAAGAAGTGTTTCCCATGG	0.453																																						ENST00000367742.3																			0											c.(2779-2781)Gtt>Att		proline-rich coiled-coil 2C							61.0	61.0	61.0					1																	171509384		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509384G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2773G>A	1.37:g.171509384G>A	ENSP00000343629:p.Val925Ile					PRRC2C_ENST00000392078.3_Missense_Mutation_p.V927I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V925I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.V925I	p.V927I			Q9Y520	PRC2C_HUMAN			16	3021	+			925					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2779G>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	9.350	1.065321	0.20067	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.79	4.88	0.63580	.	0.000000	0.42294	D	0.000737	T	0.01156	0.0038	N	0.12746	0.255	0.29908	N	0.823781	B	0.17268	0.021	B	0.18561	0.022	T	0.46925	-0.9156	10	0.19147	T	0.46	.	2.9473	0.05850	0.157:0.1418:0.5544:0.1468	.	925	Q9Y520-4	.	I	927;926;925;927;925;682;684	ENSP00000375928:V927I;ENSP00000410219:V925I;ENSP00000356716:V927I;ENSP00000343629:V925I	ENSP00000343629:V925I	V	+	1	0	PRRC2C	169776008	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.175000	0.42491	1.467000	0.48044	0.644000	0.83932	GTT		0.453	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		7	47	0	0	0	1	0	7	47				
LMF2	91289	broad.mit.edu	37	22	50943312	50943312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50943312G>A	ENST00000474879.2	-	10	1371	c.1356C>T	c.(1354-1356)taC>taT	p.Y452Y	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Silent_p.Y427Y	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	452						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGAGGCCGTAGGAGTTGG	0.697																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(1279-1281)taC>taT		lipase maturation factor 2							14.0	17.0	16.0					22																	50943312		2190	4272	6462	SO:0001819	synonymous_variant	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943312G>A	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1356C>T	22.37:g.50943312G>A						LMF2_ENST00000474879.2_Silent_p.Y452Y|LMF2_ENST00000380796.3_Intron	p.Y427Y			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	1449	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	452					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	ENST00000474879.2	37	c.1281C>T	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247929	0.22880	.	.	ENSG00000100258	ENST00000487499	.	.	.	4.85	-4.28	0.03732	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54309	-0.8313	4	.	.	.	-0.0104	11.2469	0.49002	0.6398:0.0:0.3602:0.0	.	.	.	.	W	459	.	.	R	-	1	2	LMF2	49290178	0.000000	0.05858	0.782000	0.31804	0.892000	0.51952	-2.377000	0.01069	-0.898000	0.03906	-0.742000	0.03525	CGG		0.697	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		6	6	0	0	0	1	0	6	6				
NIPA1	123606	broad.mit.edu	37	15	23049092	23049092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23049092C>T	ENST00000337435.4	-	5	751	c.727G>A	c.(727-729)Gtc>Atc	p.V243I	NIPA1_ENST00000437912.2_Missense_Mutation_p.V168I|NIPA1_ENST00000538684.1_Missense_Mutation_p.V73I|NIPA1_ENST00000561183.1_Missense_Mutation_p.V168I	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	243					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CTGAACTGGACGATGATGCTG	0.607																																						ENST00000437912.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(502-504)Gtc>Atc		non imprinted in Prader-Willi/Angelman syndrome 1							116.0	85.0	95.0					15																	23049092		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049092C>T	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.727G>A	15.37:g.23049092C>T	ENSP00000337452:p.Val243Ile					NIPA1_ENST00000337435.4_Missense_Mutation_p.V243I|NIPA1_ENST00000561183.1_Missense_Mutation_p.V168I|NIPA1_ENST00000538684.1_Missense_Mutation_p.V73I	p.V168I			Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	1799	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	243					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.502G>A	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	6.605	0.480010	0.12581	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.90004	-2.6;-2.6;-2.6	5.7	-2.36	0.06663	.	0.506600	0.21577	N	0.072307	T	0.70928	0.3280	N	0.03281	-0.365	0.21105	N	0.999789	B	0.02656	0.0	B	0.04013	0.001	T	0.57780	-0.7752	10	0.20046	T	0.44	-12.4976	12.5105	0.56003	0.0:0.2769:0.0:0.7231	.	243	Q7RTP0	NIPA1_HUMAN	I	243;168;73	ENSP00000337452:V243I;ENSP00000393962:V168I;ENSP00000440957:V73I	ENSP00000337452:V243I	V	-	1	0	NIPA1	20600533	0.997000	0.39634	0.938000	0.37757	0.993000	0.82548	0.757000	0.26433	-0.292000	0.08999	0.591000	0.81541	GTC		0.607	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		14	26	0	0	0	1	0	14	26				
TTC5	91875	broad.mit.edu	37	14	20757860	20757860	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757860C>A	ENST00000258821.3	-	10	1305	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	TTC5_ENST00000556592.1_5'Flank	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	417					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCATTCACCACTAGCAGGAGG	0.512																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(1249-1251)Gtg>Ttg		tetratricopeptide repeat domain 5							77.0	60.0	66.0					14																	20757860		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20757860C>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1249G>T	14.37:g.20757860C>A	ENSP00000258821:p.Val417Leu						p.V417L	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	10	1305	-	all_cancers(95;0.00092)		417					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.1249G>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.515|8.515	0.867364|0.867364	0.17250|0.17250	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.26660	.|1.72	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.205916	.|0.41500	.|D	.|0.000866	T|T	0.16214|0.16214	0.0390|0.0390	N|N	0.11560|0.11560	0.145|0.145	0.34385|0.34385	D|D	0.693569|0.693569	.|B	.|0.12013	.|0.005	.|B	.|0.08055	.|0.003	T|T	0.10917|0.10917	-1.0609|-1.0609	5|10	.|0.45353	.|T	.|0.12	.|.	15.9521|15.9521	0.79846|0.79846	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|417	.|Q8N0Z6	.|TTC5_HUMAN	I|L	361|417	.|ENSP00000258821:V417L	.|ENSP00000258821:V417L	S|V	-|-	2|1	0|0	TTC5|TTC5	19827700|19827700	0.920000|0.920000	0.31207|0.31207	0.966000|0.966000	0.40874|0.40874	0.184000|0.184000	0.23303|0.23303	1.696000|1.696000	0.37773|0.37773	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.512	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		7	14	1	0	0.00198382	1	0.00210581	7	14				
GPR64	10149	broad.mit.edu	37	X	19013148	19013148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19013148G>T	ENST00000379869.3	-	28	2898	c.2735C>A	c.(2734-2736)aCt>aAt	p.T912N	GPR64_ENST00000340581.3_Missense_Mutation_p.T793N|GPR64_ENST00000379876.1_Missense_Mutation_p.T888N|GPR64_ENST00000354791.3_Missense_Mutation_p.T896N|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000360279.4_Missense_Mutation_p.T890N|GPR64_ENST00000356606.4_Missense_Mutation_p.T898N|GPR64_ENST00000357544.3_Missense_Mutation_p.T882N|GPR64_ENST00000379878.3_Missense_Mutation_p.T896N|GPR64_ENST00000357991.3_Missense_Mutation_p.T909N	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	912					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAACCATTAGTAGCAGTTTT	0.423																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(2686-2688)aCt>aAt		G protein-coupled receptor 64							171.0	137.0	148.0					X																	19013148		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19013148G>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2735C>A	X.37:g.19013148G>T	ENSP00000369198:p.Thr912Asn					GPR64_ENST00000379876.1_Missense_Mutation_p.T888N|GPR64_ENST00000360279.4_Missense_Mutation_p.T890N|GPR64_ENST00000340581.3_Missense_Mutation_p.T793N|GPR64_ENST00000357991.3_Missense_Mutation_p.T909N|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000357544.3_Missense_Mutation_p.T882N|GPR64_ENST00000356606.4_Missense_Mutation_p.T898N|GPR64_ENST00000354791.3_Missense_Mutation_p.T896N|GPR64_ENST00000379869.3_Missense_Mutation_p.T912N	p.T896N	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			27	2928	-	Hepatocellular(33;0.183)		912					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2687C>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064955	0.76187	.	.	ENSG00000173698	ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.31;1.31;1.33;1.31;1.33;1.34;1.35	5.23	5.23	0.72850	.	0.000000	0.52532	D	0.000071	T	0.56949	0.2020	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.946;0.999;1.0;0.996;0.997;1.0;1.0;1.0;0.991	T	0.56792	-0.7920	10	0.48119	T	0.1	.	17.9319	0.88999	0.0:0.0:1.0:0.0	.	793;874;882;888;896;890;898;909;912	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9	.;.;.;.;.;.;.;.;GPR64_HUMAN	N	896;896;888;882;912;890;909;898;793	ENSP00000369207:T896N;ENSP00000346845:T896N;ENSP00000369205:T888N;ENSP00000350152:T882N;ENSP00000369198:T912N;ENSP00000353421:T890N;ENSP00000350680:T909N;ENSP00000349015:T898N;ENSP00000344972:T793N	ENSP00000344972:T793N	T	-	2	0	GPR64	18923069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.674000	0.91191	2.167000	0.68274	0.600000	0.82982	ACT		0.423	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			40	83	1	0	5.43694e-19	1	7.10666e-19	40	83				
MDGA1	266727	broad.mit.edu	37	6	37620022	37620022	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37620022C>A	ENST00000434837.3	-	7	2255	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	MDGA1_ENST00000297153.7_Silent_p.V359V|MDGA1_ENST00000505425.1_Silent_p.V359V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	359	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCACTGCATCCACGTGGCACG	0.562																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(1075-1077)gtG>gtT		MAM domain containing glycosylphosphatidylinositol anchor 1							62.0	68.0	66.0					6																	37620022		2163	4257	6420	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37620022C>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1077G>T	6.37:g.37620022C>A						MDGA1_ENST00000297153.7_Silent_p.V359V|MDGA1_ENST00000505425.1_Silent_p.V359V	p.V359V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			7	2255	-			359			Ig-like 4.		A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.1077G>T	CCDS47417.1																																																																																				0.562	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			22	32	1	0	8.04996e-18	1	1.04647e-17	22	32				
PLXNA4	91584	broad.mit.edu	37	7	131817900	131817900	+	Missense_Mutation	SNP	G	G	T	rs548046504		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131817900G>T	ENST00000359827.3	-	31	6459	c.5497C>A	c.(5497-5499)Ctg>Atg	p.L1833M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1833M			Q9HCM2	PLXA4_HUMAN	plexin A4	1833					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTCAGCCAGGTATGCGTTC	0.498																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5497-5499)Ctg>Atg		plexin A4							146.0	148.0	148.0					7																	131817900		2198	4300	6498	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131817900G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5497C>A	7.37:g.131817900G>T	ENSP00000352882:p.Leu1833Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1833M	p.L1833M			Q9HCM2	PLXA4_HUMAN			31	6459	-			1833					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5497C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728250	0.48833	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.21031	2.03;2.03	5.24	4.35	0.52113	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.40145	0.1105	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.09143	-1.0688	10	0.42905	T	0.14	.	9.1464	0.36935	0.2613:0.0:0.7387:0.0	.	1833	Q9HCM2	PLXA4_HUMAN	M	1833	ENSP00000323194:L1833M;ENSP00000352882:L1833M	ENSP00000323194:L1833M	L	-	1	2	PLXNA4	131468440	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	1.499000	0.35671	2.460000	0.83146	0.561000	0.74099	CTG		0.498	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		5	98	1	0	0.000602214	1	0.000649039	5	98				
PCDHGA2	56113	broad.mit.edu	37	5	140718798	140718798	+	Missense_Mutation	SNP	C	C	T	rs370664976		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140718798C>T	ENST00000394576.2	+	1	260	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCACTGCGAACAGGATA	0.547																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(259-261)gCg>gTg									61.0	65.0	64.0					5																	140718798		2203	4300	6503	SO:0001583	missense	0							g.chr5:140718798C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.260C>T	5.37:g.140718798C>T	ENSP00000378077:p.Ala87Val					PCDHGA1_ENST00000517417.1_Intron	p.A87V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	260	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.260C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.642	1.139276	0.21205	.	.	ENSG00000081853	ENST00000394576	T	0.28454	1.61	5.17	2.23	0.28157	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.182644	0.25878	U	0.027718	T	0.34308	0.0893	M	0.84846	2.72	0.09310	N	1	P;P	0.35982	0.531;0.525	B;B	0.36608	0.193;0.229	T	0.33266	-0.9875	10	0.56958	D	0.05	.	6.0596	0.19830	0.253:0.5933:0.0:0.1537	.	87;87	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	87	ENSP00000378077:A87V	ENSP00000378077:A87V	A	+	2	0	PCDHGA2	140698982	0.000000	0.05858	0.235000	0.24058	0.018000	0.09664	-1.455000	0.02379	1.314000	0.45095	-0.150000	0.13652	GCG		0.547	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		28	42	0	0	0	1	0	28	42				
SCN3A	6328	broad.mit.edu	37	2	165947770	165947770	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165947770G>A	ENST00000360093.3	-	28	5384	c.4893C>T	c.(4891-4893)atC>atT	p.I1631I	SCN3A_ENST00000283254.7_Silent_p.I1631I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Silent_p.I1582I|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Silent_p.I114I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1631					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGACGTAGGATTCGGCCAA	0.488																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4891-4893)atC>atT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						114.0	115.0	115.0					2																	165947770		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947770G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4893C>T	2.37:g.165947770G>A						SCN3A_ENST00000540861.1_Silent_p.I114I|SCN3A_ENST00000409101.3_Silent_p.I1582I|SCN3A_ENST00000283254.7_Silent_p.I1631I|AC013463.2_ENST00000431341.1_RNA	p.I1631I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5384	-			1631					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.4893C>T																																																																																					0.488	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		48	61	0	0	0	1	0	48	61				
ZNF585A	199704	broad.mit.edu	37	19	37643829	37643829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643829C>A	ENST00000356958.4	-	5	1230	c.972G>T	c.(970-972)aaG>aaT	p.K324N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.K269N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K269N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K269N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATATAGGGCTTCACTCTTG	0.388																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(970-972)aaG>aaT		zinc finger protein 585A							199.0	185.0	190.0					19																	37643829		2203	4297	6500	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643829C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.972G>T	19.37:g.37643829C>A	ENSP00000349440:p.Lys324Asn					ZNF585A_ENST00000292841.5_Missense_Mutation_p.K269N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K269N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.K269N	p.K324N			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1230	-			324					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.972G>T		.	.	.	.	.	.	.	.	.	.	C	7.916	0.737510	0.15574	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.64618	3.08;3.08;3.08;-0.11	3.13	-6.27	0.02026	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.391587	0.18674	N	0.134356	T	0.51432	0.1674	M	0.73753	2.245	0.23320	N	0.997918	P	0.49696	0.927	B	0.40782	0.34	T	0.51888	-0.8648	10	0.66056	D	0.02	.	6.347	0.21355	0.1196:0.363:0.0:0.5174	.	324	Q6P3V2	Z585A_HUMAN	N	324;269;269;269	ENSP00000349440:K324N;ENSP00000292841:K269N;ENSP00000375998:K269N;ENSP00000347724:K269N	ENSP00000292841:K269N	K	-	3	2	ZNF585A	42335669	0.039000	0.19947	0.000000	0.03702	0.005000	0.04900	-0.043000	0.12043	-1.967000	0.01008	-1.075000	0.02238	AAG		0.388	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		13	168	1	0	3.45872e-05	1	3.88335e-05	13	168				
ALDH6A1	4329	broad.mit.edu	37	14	74537970	74537970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74537970G>A	ENST00000553458.1	-	6	756	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'Flank|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.L207F|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	220					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TTAGCAAGAAGCATAGTTGCT	0.473																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(658-660)Ctt>Ttt		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						72.0	73.0	73.0					14																	74537970		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74537970G>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.658C>T	14.37:g.74537970G>A	ENSP00000450436:p.Leu220Phe					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.L207F|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	p.L220F	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	6	756	-			220					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.658C>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525385	0.27299	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.91740	-2.9;-2.9	5.86	4.02	0.46733	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.253532	0.41097	N	0.000943	T	0.82181	0.4981	N	0.17723	0.515	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.16722	0.016;0.016	T	0.72513	-0.4270	10	0.09843	T	0.71	.	7.5038	0.27532	0.345:0.0:0.655:0.0	.	207;220	B4DFS8;Q02252	.;MMSA_HUMAN	F	220;207	ENSP00000450436:L220F;ENSP00000342564:L207F	ENSP00000342564:L220F	L	-	1	0	ALDH6A1	73607723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.996000	0.49449	1.473000	0.48159	0.655000	0.94253	CTT		0.473	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			6	52	0	0	0	1	0	6	52				
NCAN	1463	broad.mit.edu	37	19	19351456	19351456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19351456G>A	ENST00000252575.6	+	12	3553	c.3454G>A	c.(3454-3456)Gtg>Atg	p.V1152M	NCAN_ENST00000538881.1_Missense_Mutation_p.V603M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1152	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CGACAGGATCGTGGAGAGAGA	0.632																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3454-3456)Gtg>Atg		neurocan							146.0	101.0	116.0					19																	19351456		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19351456G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3454G>A	19.37:g.19351456G>A	ENSP00000252575:p.Val1152Met					NCAN_ENST00000538881.1_Missense_Mutation_p.V603M	p.V1152M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		12	3497	+			1152			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3454G>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	g	18.76	3.692426	0.68271	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.19105	2.17;2.17	3.98	3.98	0.46160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.31797	N	0.007054	T	0.39384	0.1076	L	0.49640	1.575	0.39442	D	0.967268	D	0.89917	1.0	D	0.85130	0.997	T	0.33163	-0.9879	10	0.62326	D	0.03	.	13.6121	0.62086	0.0:0.0:1.0:0.0	.	1152	O14594	NCAN_HUMAN	M	1166;1152;603	ENSP00000252575:V1152M;ENSP00000442202:V603M	ENSP00000252575:V1152M	V	+	1	0	NCAN	19212456	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.314000	0.78988	2.060000	0.61445	0.289000	0.19496	GTG		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		20	35	0	0	0	1	0	20	35				
PCNX	22990	broad.mit.edu	37	14	71502809	71502809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502809G>T	ENST00000304743.2	+	19	4248	c.3802G>T	c.(3802-3804)Gta>Tta	p.V1268L	PCNX_ENST00000238570.5_Missense_Mutation_p.V1268L|PCNX_ENST00000439984.3_Missense_Mutation_p.V1157L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1268						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGACCTGGTAGTATGCATTGT	0.313																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3802-3804)Gta>Tta		pecanex homolog (Drosophila)							270.0	236.0	248.0					14																	71502809		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71502809G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3802G>T	14.37:g.71502809G>T	ENSP00000304192:p.Val1268Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.V1157L|PCNX_ENST00000238570.5_Missense_Mutation_p.V1268L	p.V1268L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	19	4248	+			1268					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3802G>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.892482|2.892482	0.52121|0.52121	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.10573|.	3.29;3.26;2.86|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70176|.	0.3194|.	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	B;B;B|.	0.34015|.	0.093;0.435;0.214|.	B;B;B|.	0.28991|.	0.082;0.097;0.087|.	T|.	0.68845|.	-0.5301|.	10|.	0.62326|.	D|.	0.03|.	.|.	13.6084|13.6084	0.62061|0.62061	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	1268;1157;1268|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|Y	1268;1268;1157|326	ENSP00000304192:V1268L;ENSP00000238570:V1268L;ENSP00000396617:V1157L|.	ENSP00000238570:V1268L|.	V|X	+|+	1|3	0|2	PCNX|PCNX	70572562|70572562	1.000000|1.000000	0.71417|0.71417	0.519000|0.519000	0.27824|0.27824	0.981000|0.981000	0.71138|0.71138	7.474000|7.474000	0.81024|0.81024	2.565000|2.565000	0.86533|0.86533	0.467000|0.467000	0.42956|0.42956	GTA|TAG		0.313	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		37	81	1	0	1.62957e-23	1	2.15828e-23	37	81				
WT1	7490	broad.mit.edu	37	11	32421585	32421585	+	Missense_Mutation	SNP	C	C	T	rs371021920		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32421585C>T	ENST00000379079.2	-	6	644	c.371G>A	c.(370-372)aGc>aAc	p.S124N	WT1_ENST00000332351.3_Missense_Mutation_p.S336N|WT1_ENST00000448076.3_Missense_Mutation_p.S336N|WT1_ENST00000530998.1_Missense_Mutation_p.S107N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	268					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTACCCTGTGCTGTGGCTGCA	0.498			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	0				NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1006-1008)aGc>aAc		Wilms tumor 1		C	ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER	0,4404		0,0,2202	227.0	192.0	204.0		1007,1007,320,371,956	5.1	0.9	11		204	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	WT1	NM_024426.4,NM_024424.3,NM_001198552.1,NM_001198551.1,NM_000378.4	46,46,46,46,46	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	336/518,336/515,107/289,124/303,319/498	32421585	1,13001	2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32421585C>T		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.371G>A	11.37:g.32421585C>T	ENSP00000368370:p.Ser124Asn					WT1_ENST00000448076.3_Missense_Mutation_p.S336N|WT1_ENST00000530998.1_Missense_Mutation_p.S107N|WT1_ENST00000379079.2_Missense_Mutation_p.S124N	p.S336N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		6	1291	-	Breast(20;0.247)		268					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1007G>A	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964923	0.53507	0.0	1.16E-4	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.98	5.05	0.67936	Wilm&apos (1);s tumour protein, N-terminal (1);	0.296578	0.25481	U	0.030378	T	0.72145	0.3424	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.21753	0.06;0.012;0.01;0.022;0.01	B;B;B;B;B	0.24394	0.04;0.034;0.053;0.049;0.038	T	0.57740	-0.7759	10	0.25106	T	0.35	.	15.2796	0.73770	0.0:0.7775:0.2225:0.0	.	324;268;341;107;124	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	N	124;336;107;319;336;87	ENSP00000368370:S124N;ENSP00000331327:S336N;ENSP00000435307:S107N;ENSP00000415516:S319N;ENSP00000413452:S336N;ENSP00000435351:S87N	ENSP00000331327:S336N	S	-	2	0	WT1	32378161	0.996000	0.38824	0.880000	0.34516	0.760000	0.43138	4.071000	0.57556	2.835000	0.97688	0.650000	0.86243	AGC		0.498	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		12	23	0	0	0	1	0	12	23				
CD46	4179	broad.mit.edu	37	1	207940505	207940505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207940505G>T	ENST00000358170.2	+	6	977	c.821G>T	c.(820-822)aGt>aTt	p.S274I	CD46_ENST00000357714.1_Missense_Mutation_p.S274I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000360212.2_Missense_Mutation_p.S274I|CD46_ENST00000322875.4_Missense_Mutation_p.S274I|CD46_ENST00000441839.2_Missense_Mutation_p.S274I|CD46_ENST00000367042.1_Missense_Mutation_p.S274I|CD46_ENST00000361067.1_Missense_Mutation_p.S274I|CD46_ENST00000354848.1_Missense_Mutation_p.S274I|CD46_ENST00000367041.1_Missense_Mutation_p.S274I|CD46_ENST00000480003.1_Missense_Mutation_p.S274I|CD46_ENST00000367047.1_Missense_Mutation_p.S211I|CD46_ENST00000322918.5_Missense_Mutation_p.S274I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	274	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACAGTAACAGTACTTGGGAT	0.363																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(820-822)aGt>aTt		CD46 molecule, complement regulatory protein							112.0	107.0	109.0					1																	207940505		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207940505G>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.821G>T	1.37:g.207940505G>T	ENSP00000350893:p.Ser274Ile					CD46_ENST00000367042.1_Missense_Mutation_p.S274I|CD46_ENST00000367047.1_Missense_Mutation_p.S211I|CD46_ENST00000354848.1_Missense_Mutation_p.S274I|CD46_ENST00000360212.2_Missense_Mutation_p.S274I|CD46_ENST00000367041.1_Missense_Mutation_p.S274I|CD46_ENST00000441839.2_Missense_Mutation_p.S274I|CD46_ENST00000357714.1_Missense_Mutation_p.S274I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.S274I|CD46_ENST00000361067.1_Missense_Mutation_p.S274I|CD46_ENST00000322918.5_Missense_Mutation_p.S274I|CD46_ENST00000480003.1_Missense_Mutation_p.S274I	p.S274I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			6	977	+			274			Sushi 4.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.821G>T	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936391	0.52972	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.05	-4.92	0.03075	Complement control module (2);Sushi/SCR/CCP (3);	1.674190	0.03352	N	0.196386	T	0.81432	0.4821	M	0.92833	3.35	0.09310	N	1	D;D;D;D;D;D;D;D;D;P;D;D;D;D	0.76494	0.993;0.993;0.996;0.993;0.993;0.999;0.993;0.993;0.993;0.94;0.993;0.998;0.998;0.999	D;P;P;D;P;D;P;P;D;P;D;D;D;D	0.79784	0.92;0.88;0.822;0.92;0.88;0.988;0.902;0.822;0.92;0.483;0.92;0.982;0.982;0.993	T	0.74719	-0.3570	10	0.87932	D	0	.	8.4113	0.32644	0.6404:0.1278:0.2318:0.0	.	274;274;274;274;274;274;274;274;274;274;274;274;274;274	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	I	274;274;274;274;274;274;274;211;274;274;274;274	ENSP00000350893:S274I;ENSP00000346912:S274I;ENSP00000314664:S274I;ENSP00000356009:S274I;ENSP00000356008:S274I;ENSP00000350346:S274I;ENSP00000313875:S274I;ENSP00000356014:S211I;ENSP00000413543:S274I;ENSP00000354358:S274I;ENSP00000353342:S274I;ENSP00000418471:S274I	ENSP00000313875:S274I	S	+	2	0	CD46	206007128	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.513000	0.02256	-0.890000	0.03945	-0.140000	0.14226	AGT		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		10	110	1	0	0.000442599	1	0.00048047	10	110				
ITGB6	3694	broad.mit.edu	37	2	160993949	160993949	+	Silent	SNP	G	G	A	rs139038668		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160993949G>A	ENST00000283249.2	-	10	1893	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	ITGB6_ENST00000428609.2_Silent_p.C510C|ITGB6_ENST00000409872.1_Silent_p.C552C|ITGB6_ENST00000409967.2_Silent_p.C552C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	552	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCTACCTCCGCAGAGCAGCC	0.517																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1654-1656)tgC>tgT		integrin, beta 6							85.0	81.0	83.0					2																	160993949		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160993949G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1656C>T	2.37:g.160993949G>A						ITGB6_ENST00000409872.1_Silent_p.C552C|ITGB6_ENST00000428609.2_Silent_p.C510C|ITGB6_ENST00000409967.2_Silent_p.C552C	p.C552C			P18564	ITB6_HUMAN			10	1893	-			552			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.1656C>T	CCDS2212.1																																																																																				0.517	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		26	35	0	0	0	1	0	26	35				
RNF213	57674	broad.mit.edu	37	17	78272171	78272171	+	Missense_Mutation	SNP	C	C	T	rs139456294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78272171C>T	ENST00000582970.1	+	11	2206	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	RNF213_ENST00000319921.4_Missense_Mutation_p.T688M|RNF213_ENST00000456466.1_Missense_Mutation_p.T688M|RNF213_ENST00000508628.2_Missense_Mutation_p.T737M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	688					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACACAAGGACGTACACCTGG	0.622													c|||	7	0.00139776	0.0038	0.0029	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2062-2064)aCg>aTg		ring finger protein 213		C	MET/THR,MET/THR	32,4374	37.6+/-69.7	0,32,2171	73.0	57.0	62.0		2210,2063	-5.9	0.0	17	dbSNP_134	62	1,8599		0,1,4299	yes	missense,missense	RNF213	NM_020914.4,NM_020954.2	81,81	0,33,6470	TT,TC,CC		0.0116,0.7263,0.2537	benign,benign	737/5257,688/1064	78272171	33,12973	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78272171C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2063C>T	17.37:g.78272171C>T	ENSP00000464087:p.Thr688Met					RNF213_ENST00000508628.2_Missense_Mutation_p.T737M|RNF213_ENST00000456466.1_Missense_Mutation_p.T688M|RNF213_ENST00000319921.4_Missense_Mutation_p.T688M	p.T688M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		11	2206	+	all_neural(118;0.0538)		688					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.2063C>T	CCDS58606.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	5.423	0.263179	0.10294	0.007263	1.16E-4	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.31	-5.9	0.02275	.	32.148100	0.00357	N	0.000026	T	0.09774	0.0240	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.08249	-1.0731	9	0.32370	T	0.25	-0.2345	2.1852	0.03885	0.2463:0.0772:0.3541:0.3224	.	688;688	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	M	688;737;688;688	.	ENSP00000324392:T688M	T	+	2	0	RNF213	75886766	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.214000	0.17541	-1.343000	0.02219	-3.688000	0.00024	ACG		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		14	18	0	0	0	1	0	14	18				
RGS11	8786	broad.mit.edu	37	16	320571	320571	+	Missense_Mutation	SNP	C	C	T	rs543301245	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:320571C>T	ENST00000397770.3	-	15	1174	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.R375H|RGS11_ENST00000316163.5_Missense_Mutation_p.R365H			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	386	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAGGACATAGCGGTGGGGCTG	0.667													C|||	5	0.000998403	0.0	0.0	5008	,	,		16828	0.0		0.0	False		,,,				2504	0.0051					ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(1156-1158)cGc>cAc		regulator of G-protein signaling 11							23.0	24.0	24.0					16																	320571		2198	4298	6496	SO:0001583	missense	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:320571C>T	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.1157G>A	16.37:g.320571C>T	ENSP00000380876:p.Arg386His					RGS11_ENST00000359740.5_Missense_Mutation_p.R375H|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.R365H	p.R386H			O94810	RGS11_HUMAN			15	1174	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	386			RGS.		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	c.1157G>A	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374123	0.82573	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.02103	4.45;4.45;4.45	4.52	4.52	0.55395	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.979;0.992;0.992	T	0.00747	-1.1583	10	0.87932	D	0	-11.7712	16.2108	0.82158	0.0:1.0:0.0:0.0	.	375;386;386	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	H	386;365;375	ENSP00000380876:R386H;ENSP00000319069:R365H;ENSP00000352778:R375H	ENSP00000319069:R365H	R	-	2	0	RGS11	260572	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.543000	0.67225	2.045000	0.60652	0.462000	0.41574	CGC		0.667	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			5	5	0	0	0	1	0	5	5				
PIF1	80119	broad.mit.edu	37	15	65108796	65108796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65108796G>A	ENST00000268043.4	-	12	1937	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	PIF1_ENST00000333425.6_Missense_Mutation_p.R615W|PIF1_ENST00000559239.1_Missense_Mutation_p.R615W					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CTGCCCCGCCGCAGGGTGGCA	0.672																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1843-1845)Cgg>Tgg		PIF1 5'-to-3' DNA helicase							47.0	55.0	52.0					15																	65108796		2202	4298	6500	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65108796G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1843C>T	15.37:g.65108796G>A	ENSP00000268043:p.Arg615Trp					PIF1_ENST00000559239.1_Missense_Mutation_p.R615W|PIF1_ENST00000333425.6_Missense_Mutation_p.R615W	p.R615W			Q9H611	PIF1_HUMAN			12	1937	-			615			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1843C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603396	0.46423	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.80393	-0.34;-1.37	5.74	2.87	0.33458	.	0.361310	0.32671	N	0.005797	T	0.58495	0.2126	N	0.08118	0	0.37611	D	0.92094	B	0.24675	0.109	B	0.18561	0.022	T	0.54186	-0.8331	10	0.66056	D	0.02	-6.4901	5.0768	0.14636	0.1544:0.0:0.5543:0.2912	.	615	Q9H611	PIF1_HUMAN	W	615	ENSP00000268043:R615W;ENSP00000328174:R615W	ENSP00000268043:R615W	R	-	1	2	PIF1	62895849	0.990000	0.36364	0.313000	0.25210	0.860000	0.49131	0.940000	0.28992	0.361000	0.24292	0.655000	0.94253	CGG		0.672	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		26	40	0	0	0	1	0	26	40				
KIAA1919	91749	broad.mit.edu	37	6	111587679	111587679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587679G>A	ENST00000368847.4	+	4	1267	c.914G>A	c.(913-915)aGc>aAc	p.S305N		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	305					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AACATTGGCAGCCTGACTTCA	0.468																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(913-915)aGc>aAc		KIAA1919							184.0	188.0	187.0					6																	111587679		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587679G>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.914G>A	6.37:g.111587679G>A	ENSP00000357840:p.Ser305Asn						p.S305N	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	1267	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	305					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.914G>A	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107245	0.77096	.	.	ENSG00000173214	ENST00000368847	T	0.58358	0.34	6.05	6.05	0.98169	Major facilitator superfamily domain, general substrate transporter (1);	0.172789	0.64402	D	0.000005	T	0.67429	0.2892	M	0.73962	2.25	0.40978	D	0.984753	D	0.69078	0.997	D	0.74023	0.982	T	0.68526	-0.5385	10	0.59425	D	0.04	-22.3378	16.2973	0.82783	0.0:0.1673:0.8326:0.0	.	305	Q5TF39	NAGT1_HUMAN	N	305	ENSP00000357840:S305N	ENSP00000357840:S305N	S	+	2	0	KIAA1919	111694372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.108000	0.41854	2.875000	0.98604	0.643000	0.83706	AGC		0.468	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		17	163	0	0	0	1	0	17	163				
LMNB2	84823	broad.mit.edu	37	19	2434897	2434897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2434897C>A	ENST00000582871.1	-	6	896	c.810G>T	c.(808-810)aaG>aaT	p.K270N	LMNB2_ENST00000325327.3_Missense_Mutation_p.K290N	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	270	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGCTCAGCTTGGCGCTGT	0.746																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(868-870)aaG>aaT		lamin B2							16.0	15.0	15.0					19																	2434897		2186	4280	6466	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2434897C>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.810G>T	19.37:g.2434897C>A	ENSP00000462730:p.Lys270Asn					LMNB2_ENST00000582871.1_Missense_Mutation_p.K270N	p.K290N			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	932	-		Hepatocellular(1079;0.137)	270			Coil 2.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.870G>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.969436	0.74246	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.43	3.31	0.37934	Filament (1);	0.178036	0.48286	D	0.000191	T	0.36054	0.0953	L	0.31207	0.915	0.39194	D	0.96302	B	0.19817	0.039	B	0.27796	0.083	T	0.43212	-0.9405	9	0.72032	D	0.01	.	2.7355	0.05239	0.0:0.4601:0.2742:0.2658	.	270	Q03252	LMNB2_HUMAN	N	270	.	ENSP00000327054:K270N	K	-	3	2	LMNB2	2385897	0.996000	0.38824	0.999000	0.59377	0.955000	0.61496	0.478000	0.22212	2.008000	0.58898	0.561000	0.74099	AAG		0.746	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		3	18	1	0	0.014758	1	0.0152625	3	18				
ZNF638	27332	broad.mit.edu	37	2	71626719	71626719	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71626719C>A	ENST00000409544.1	+	13	3161	c.2531C>A	c.(2530-2532)gCc>gAc	p.A844D	ZNF638_ENST00000355812.3_Missense_Mutation_p.A844D|ZNF638_ENST00000264447.4_Missense_Mutation_p.A844D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	844					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCTAGAAGCCAAAAAGACT	0.353																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(2530-2532)gCc>gAc		zinc finger protein 638							125.0	134.0	131.0					2																	71626719		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71626719C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2531C>A	2.37:g.71626719C>A	ENSP00000386433:p.Ala844Asp					ZNF638_ENST00000355812.3_Missense_Mutation_p.A844D|ZNF638_ENST00000264447.4_Missense_Mutation_p.A844D	p.A844D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			13	3161	+			844					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.2531C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473946	0.43942	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.58210	0.35;1.44;1.44	5.33	0.598	0.17512	.	0.850582	0.10391	N	0.680478	T	0.23688	0.0573	N	0.14661	0.345	0.31731	N	0.637058	B;B;P;B	0.35272	0.361;0.302;0.493;0.112	B;B;B;B	0.29785	0.05;0.079;0.107;0.036	T	0.29640	-1.0005	10	0.12430	T	0.62	0.9116	0.8844	0.01241	0.1789:0.173:0.1783:0.4698	.	844;844;844;844	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	D	423;844;844;844	ENSP00000348066:A844D;ENSP00000264447:A844D;ENSP00000386433:A844D	ENSP00000264447:A844D	A	+	2	0	ZNF638	71480227	0.008000	0.16893	0.959000	0.39883	0.978000	0.69477	-0.066000	0.11598	0.485000	0.27652	0.650000	0.86243	GCC		0.353	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		6	126	1	0	0.00621372	1	0.00652201	6	126				
PSMB5	5693	broad.mit.edu	37	14	23495491	23495491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23495491C>T	ENST00000361611.6	-	3	862	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	PSMB5_ENST00000460922.2_3'UTR|PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.R97Q	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GGAATAGCCCCGATCCATGAC	0.552																																						ENST00000361611.6																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7						c.(598-600)cGg>cAg		proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)						159.0	146.0	151.0					14																	23495491		2203	4300	6503	SO:0001583	missense	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23495491C>T	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.599G>A	14.37:g.23495491C>T	ENSP00000355325:p.Arg200Gln					PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.R97Q|PSMB5_ENST00000460922.2_3'UTR	p.R200Q	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	3	862	-	all_cancers(95;3.3e-05)		200					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.599G>A	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988145	0.53934	.	.	ENSG00000100804	ENST00000361611;ENST00000425762	T;T	0.21932	1.98;1.98	5.07	3.21	0.36854	.	0.170567	0.50627	D	0.000103	T	0.07413	0.0187	N	0.01219	-0.95	0.35427	D	0.793699	B	0.20671	0.047	B	0.14578	0.011	T	0.12889	-1.0530	10	0.41790	T	0.15	-7.9228	10.762	0.46270	0.0:0.8366:0.0:0.1634	.	200	P28074	PSB5_HUMAN	Q	200;97	ENSP00000355325:R200Q;ENSP00000395206:R97Q	ENSP00000355325:R200Q	R	-	2	0	PSMB5	22565331	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.437000	0.59955	1.129000	0.42072	0.479000	0.44913	CGG		0.552	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		4	114	0	0	0	1	0	4	114				
CSTF2	1478	broad.mit.edu	37	X	100081697	100081697	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100081697A>T	ENST00000372972.2	+	7	793	c.777A>T	c.(775-777)caA>caT	p.Q259H	CSTF2_ENST00000415585.2_Missense_Mutation_p.Q259H	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	259	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CACCAGGGCAAATGCCAGCTG	0.483																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(775-777)caA>caT		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							112.0	84.0	94.0					X																	100081697		2203	4299	6502	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100081697A>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.777A>T	X.37:g.100081697A>T	ENSP00000362063:p.Gln259His					CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.Q259H	p.Q259H			P33240	CSTF2_HUMAN			7	799	+			259			Gly/Pro-rich.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.777A>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506085	0.26949	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.13657	2.61;2.57	4.56	-3.34	0.04943	.	0.363086	0.29767	N	0.011256	T	0.12860	0.0312	L	0.40543	1.245	0.30689	N	0.751515	P;D;P	0.53885	0.892;0.963;0.938	P;P;P	0.50136	0.615;0.632;0.547	T	0.09509	-1.0671	10	0.45353	T	0.12	-5.673	7.9463	0.29989	0.2751:0.0:0.5978:0.1271	.	259;242;259	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	H	259;259;235	ENSP00000387996:Q259H;ENSP00000362063:Q259H	ENSP00000362063:Q259H	Q	+	3	2	CSTF2	99968353	0.986000	0.35501	0.261000	0.24466	0.389000	0.30415	-0.007000	0.12810	-0.739000	0.04809	0.376000	0.23039	CAA		0.483	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		5	32	0	0	0	1	0	5	32				
TSHZ1	10194	broad.mit.edu	37	18	72999467	72999467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72999467C>T	ENST00000580243.1	+	2	2453	c.2105C>T	c.(2104-2106)gCc>gTc	p.A702V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A657V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	702					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAG	0.547																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1969-1971)gCc>gTc		teashirt zinc finger homeobox 1							99.0	88.0	92.0					18																	72999467		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999467C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2105C>T	18.37:g.72999467C>T	ENSP00000464391:p.Ala702Val					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A702V	p.A657V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2554	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	702					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1970C>T		.	.	.	.	.	.	.	.	.	.	C	7.231	0.599244	0.13939	.	.	ENSG00000179981	ENST00000322038	T	0.29397	1.57	4.59	3.72	0.42706	.	0.457992	0.24296	N	0.039764	T	0.10895	0.0266	N	0.02011	-0.69	0.27126	N	0.962014	B	0.06786	0.001	B	0.06405	0.002	T	0.17868	-1.0355	10	0.27082	T	0.32	-16.3416	7.5143	0.27592	0.0:0.7529:0.0:0.2471	.	702	Q6ZSZ6	TSH1_HUMAN	V	657	ENSP00000323584:A657V	ENSP00000323584:A657V	A	+	2	0	TSHZ1	71128455	1.000000	0.71417	0.975000	0.42487	0.731000	0.41821	2.294000	0.43567	1.158000	0.42547	0.561000	0.74099	GCC		0.547	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		8	29	0	0	0	1	0	8	29				
BRAT1	221927	broad.mit.edu	37	7	2581459	2581459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2581459C>T	ENST00000340611.4	-	8	1283	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	343					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TCTGCCGTCCCGTCCAGCAAG	0.672																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1027-1029)Ggg>Agg		BRCA1-associated ATM activator 1							30.0	36.0	34.0					7																	2581459		2203	4299	6502	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2581459C>T	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1027G>A	7.37:g.2581459C>T	ENSP00000339637:p.Gly343Arg						p.G343R	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			8	1283	-			343					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.1027G>A	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940082	0.52972	.	.	ENSG00000106009	ENST00000340611	D	0.90676	-2.71	5.0	2.19	0.27852	Armadillo-type fold (1);	0.537578	0.20592	N	0.089329	D	0.85579	0.5729	L	0.60455	1.87	0.09310	N	1	B	0.18610	0.029	B	0.12156	0.007	T	0.73792	-0.3871	10	0.39692	T	0.17	-17.5989	5.4744	0.16688	0.0:0.616:0.1438:0.2402	.	343	Q6PJG6	BRAT1_HUMAN	R	343	ENSP00000339637:G343R	ENSP00000339637:G343R	G	-	1	0	BRAT1	2547985	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	0.357000	0.20199	0.238000	0.21222	0.462000	0.41574	GGG		0.672	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		4	6	0	0	0	1	0	4	6				
NRSN1	140767	broad.mit.edu	37	6	24134670	24134670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24134670G>A	ENST00000378491.4	+	3	416	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	NRSN1_ENST00000378478.1_Missense_Mutation_p.A39T|NRSN1_ENST00000378475.1_Missense_Mutation_p.A39T	NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGACTGTACAGCCTCAATTTG	0.507																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(115-117)Gcc>Acc		neurensin 1							138.0	120.0	126.0					6																	24134670		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24134670G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.115G>A	6.37:g.24134670G>A	ENSP00000367752:p.Ala39Thr					NRSN1_ENST00000378478.1_Missense_Mutation_p.A39T|NRSN1_ENST00000378475.1_Missense_Mutation_p.A39T	p.A39T	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN			3	416	+			39						Missense_Mutation	SNP	ENST00000378491.4	37	c.115G>A	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217538	0.58560	.	.	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.17370	2.28;2.28;2.28	5.85	1.11	0.20524	.	0.097451	0.64402	N	0.000001	T	0.05135	0.0137	L	0.42245	1.32	0.46203	D	0.998926	B	0.06786	0.001	B	0.11329	0.006	T	0.13602	-1.0503	10	0.54805	T	0.06	-13.0224	5.2251	0.15389	0.2367:0.0:0.616:0.1473	.	39	Q8IZ57	NRSN1_HUMAN	T	39	ENSP00000367752:A39T;ENSP00000367739:A39T;ENSP00000367736:A39T	ENSP00000367736:A39T	A	+	1	0	NRSN1	24242649	1.000000	0.71417	0.962000	0.40283	0.861000	0.49209	5.138000	0.64795	0.255000	0.21593	0.655000	0.94253	GCC		0.507	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		7	52	0	0	0	1	0	7	52				
KRBOX1	100506243	broad.mit.edu	37	3	42982787	42982787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42982787G>A	ENST00000418176.1	+	2	2140	c.106G>A	c.(106-108)Gag>Aag	p.E36K	KRBOX1_ENST00000383748.4_Missense_Mutation_p.E36K|KRBOX1_ENST00000418093.2_3'UTR|KRBOX1_ENST00000426937.1_Missense_Mutation_p.E36K|KRBOX1_ENST00000443313.1_Missense_Mutation_p.E36K			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			lung(2)	2						GGTGCCTGCCGAGAGGGCCTT	0.537																																						ENST00000418176.1																			0				lung(2)	2						c.(106-108)Gag>Aag		KRAB box domain containing 1																																				SO:0001583	missense	100506243				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr3:42982787G>A		CCDS54572.1	3p22.1	2014-02-12	2010-07-29		ENSG00000240747	ENSG00000240747		"""-"""	38708	protein-coding gene	gene with protein product							Standard	NM_001205272		Approved		uc003cmm.4	C9JBD0	OTTHUMG00000156448	ENST00000418176.1:c.106G>A	3.37:g.42982787G>A	ENSP00000388094:p.Glu36Lys					KRBOX1_ENST00000418093.2_3'UTR|KRBOX1_ENST00000383748.4_Missense_Mutation_p.E36K|KRBOX1_ENST00000426937.1_Missense_Mutation_p.E36K	p.E36K			C9JBD0	KRBX1_HUMAN			2	2140	+			36			KRAB.		B4DJE8	Missense_Mutation	SNP	ENST00000418176.1	37	c.106G>A	CCDS54572.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115402	0.20795	.	.	ENSG00000240747	ENST00000426937;ENST00000383748;ENST00000418176	T;T;T	0.01629	4.72;4.72;4.72	4.82	0.756	0.18421	Krueppel-associated box (4);	0.273629	0.19668	N	0.108826	T	0.01558	0.0050	L	0.33137	0.985	0.09310	N	0.999992	B	0.22746	0.074	B	0.21360	0.034	T	0.45175	-0.9279	10	0.87932	D	0	.	4.4433	0.11584	0.1443:0.4807:0.2909:0.084	.	36	C9JBD0	KRBX1_HUMAN	K	36	ENSP00000413859:E36K;ENSP00000373254:E36K;ENSP00000388094:E36K	ENSP00000373254:E36K	E	+	1	0	KRBOX1	42957791	0.036000	0.19791	0.015000	0.15790	0.028000	0.11728	0.350000	0.20079	-0.041000	0.13558	-0.147000	0.13772	GAG		0.537	KRBOX1-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344236.1	NM_001205272		3	4	0	0	0	1	0	3	4				
TULP4	56995	broad.mit.edu	37	6	158735283	158735283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158735283C>T	ENST00000367097.3	+	1	1592	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TULP4_ENST00000367094.2_Missense_Mutation_p.R79W|RP11-732M18.3_ENST00000432358.1_lincRNA	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	79					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TTTCAACCTCCGGGGCCACAA	0.522																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(235-237)Cgg>Tgg		tubby like protein 4							70.0	71.0	71.0					6																	158735283		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158735283C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.235C>T	6.37:g.158735283C>T	ENSP00000356064:p.Arg79Trp					TULP4_ENST00000367094.2_Missense_Mutation_p.R79W	p.R79W	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	1	1592	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	79					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.235C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648816	0.67358	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61627	0.09;0.09	5.57	2.35	0.29111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.68432	-0.5410	10	0.87932	D	0	-28.6809	15.1715	0.72878	0.436:0.564:0.0:0.0	.	79;79;79	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	W	79	ENSP00000356064:R79W;ENSP00000356061:R79W	ENSP00000356061:R79W	R	+	1	2	TULP4	158655271	0.999000	0.42202	1.000000	0.80357	0.935000	0.57460	1.193000	0.32162	0.662000	0.31006	-0.516000	0.04426	CGG		0.522	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		22	28	0	0	0	1	0	22	28				
COL16A1	1307	broad.mit.edu	37	1	32119490	32119490	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32119490C>T	ENST00000373672.3	-	69	5028	c.4512G>A	c.(4510-4512)cgG>cgA	p.R1504R	RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|COL16A1_ENST00000271069.6_Silent_p.R1504R|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1504	Collagen-like 7.|Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAAGCCCTGCCGTCCTTCTC	0.602																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(4510-4512)cgG>cgA		collagen, type XVI, alpha 1							69.0	72.0	71.0					1																	32119490		1973	4151	6124	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32119490C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4512G>A	1.37:g.32119490C>T						RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|COL16A1_ENST00000271069.6_Silent_p.R1504R|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000585413.1_RNA	p.R1504R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	69	5028	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1504			Triple-helical region 1 (COL1) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.4512G>A	CCDS41297.1																																																																																				0.602	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		26	51	0	0	0	1	0	26	51				
ADAM21P1	145241	broad.mit.edu	37	14	70714489	70714489	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70714489C>T	ENST00000530196.1	-	0	29					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GCTGACCCTACGGATCTGTGT	0.488																																						ENST00000530196.1																			0																																																			0							g.chr14:70714489C>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714489C>T								NR_003951.1						0	29	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.488	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		4	52	0	0	0	1	0	4	52				
EFTUD2	9343	broad.mit.edu	37	17	42942371	42942371	+	Silent	SNP	C	C	T	rs200389815		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42942371C>T	ENST00000426333.2	-	14	1509	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	EFTUD2_ENST00000591382.1_Silent_p.T404T|EFTUD2_ENST00000592576.1_Silent_p.T394T|EFTUD2_ENST00000402521.3_Silent_p.T369T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	404	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1210-1212)acG>acA		elongation factor Tu GTP binding domain containing 2		C	,	0,4406		0,0,2203	165.0	137.0	146.0		1107,1212	2.9	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EFTUD2	NM_001142605.1,NM_004247.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	369/938,404/973	42942371	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42942371C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1212G>A	17.37:g.42942371C>T			OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	912	EFTUD2_ENST00000402521.3_Silent_p.T369T|EFTUD2_ENST00000591382.1_Silent_p.T404T|EFTUD2_ENST00000592576.1_Silent_p.T394T	p.T404T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			14	1509	-		Prostate(33;0.109)	404					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	c.1212G>A	CCDS11489.1																																																																																				0.547	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		23	47	0	0	0	1	0	23	47				
DACH2	117154	broad.mit.edu	37	X	85403938	85403938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85403938G>A	ENST00000373125.4	+	1	314	c.314G>A	c.(313-315)gGc>gAc	p.G105D	DACH2_ENST00000373131.1_Missense_Mutation_p.G105D	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	105	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGGTGGGAGGCTTGCACACT	0.572																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(313-315)gGc>gAc		dachshund homolog 2 (Drosophila)							101.0	82.0	89.0					X																	85403938		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85403938G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.314G>A	X.37:g.85403938G>A	ENSP00000362217:p.Gly105Asp					DACH2_ENST00000373125.4_Missense_Mutation_p.G105D	p.G105D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			1	477	+			105			DACHbox-N.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.314G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448007	0.63178	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.84944	-1.92;-1.92	4.49	4.49	0.54785	DNA binding domain, putative (1);Transforming protein Ski (2);	0.000000	0.51477	D	0.000086	D	0.92074	0.7488	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93352	0.6719	10	0.87932	D	0	.	16.103	0.81201	0.0:0.0:1.0:0.0	.	105;105	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	D	105	ENSP00000362223:G105D;ENSP00000362217:G105D	ENSP00000345134:G105D	G	+	2	0	DACH2	85290594	1.000000	0.71417	0.997000	0.53966	0.570000	0.35934	8.862000	0.92283	2.066000	0.61787	0.538000	0.68166	GGC		0.572	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		21	53	0	0	0	1	0	21	53				
PRDM10	56980	broad.mit.edu	37	11	129827806	129827806	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129827806C>A	ENST00000360871.3	-	3	301		c.e3-1		PRDM10_ENST00000528746.1_Splice_Site|PRDM10_ENST00000358825.5_Splice_Site	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAAAGTGCACCTGGCATAAAC	0.498																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.e3-1		PR domain containing 10							173.0	157.0	162.0					11																	129827806		2201	4297	6498	SO:0001630	splice_region_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129827806C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.70-1G>T	11.37:g.129827806C>A						PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site		NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	3	301	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)						B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Splice_Site	SNP	ENST00000360871.3	37		CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448377	0.63178	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9705	0.97284	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDM10	129333016	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.487000	0.81328	2.728000	0.93425	0.655000	0.94253	.		0.498	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	Intron	27	138	1	0	2.79863e-10	1	3.44159e-10	27	138				
SYNPO2	171024	broad.mit.edu	37	4	119952838	119952838	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119952838T>C	ENST00000429713.2	+	4	3090	c.2908T>C	c.(2908-2910)Tat>Cat	p.Y970H	SYNPO2_ENST00000434046.2_Missense_Mutation_p.Y970H|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.Y970H	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	970						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCACCAACCGTATCAGCTCAA	0.488																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2908-2910)Tat>Cat		synaptopodin 2							98.0	80.0	86.0					4																	119952838		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952838T>C	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2908T>C	4.37:g.119952838T>C	ENSP00000395143:p.Tyr970His					SYNPO2_ENST00000429713.2_Missense_Mutation_p.Y970H|SYNPO2_ENST00000434046.2_Missense_Mutation_p.Y970H|SYNPO2_ENST00000448416.2_Intron	p.Y970H	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	3104	+			970					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2908T>C	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.32|19.32	3.805104|3.805104	0.70682|0.70682	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.39056	.|1.1;1.23;1.21	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.66713|0.66713	0.2817|0.2817	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999	.|D;D;D;D	.|0.91635	.|0.997;0.999;0.996;0.985	T|T	0.69982|0.69982	-0.4997|-0.4997	5|9	.|.	.|.	.|.	-11.5321|-11.5321	15.6203|15.6203	0.76802|0.76802	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|970;970;970;970	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	A|H	921|970	.|ENSP00000306015:Y970H;ENSP00000395143:Y970H;ENSP00000390965:Y970H	.|.	V|Y	+|+	2|1	0|0	SYNPO2|SYNPO2	120172286|120172286	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.904000|0.904000	0.53231|0.53231	8.040000|8.040000	0.89188|0.89188	2.101000|2.101000	0.63845|0.63845	0.533000|0.533000	0.62120|0.62120	GTA|TAT		0.488	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			3	35	0	0	0	1	0	3	35				
ITGB7	3695	broad.mit.edu	37	12	53585794	53585794	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53585794T>G	ENST00000267082.5	-	15	2396	c.2165A>C	c.(2164-2166)gAc>gCc	p.D722A	ITGB7_ENST00000338737.4_Missense_Mutation_p.D574A|ITGB7_ENST00000422257.3_Missense_Mutation_p.D722A|ITGB7_ENST00000550743.2_Missense_Mutation_p.D574A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	722					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCGTGTGGTCTGCTCCCTC	0.597																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2164-2166)gAc>gCc		integrin, beta 7							38.0	37.0	37.0					12																	53585794		2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53585794T>G		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2165A>C	12.37:g.53585794T>G	ENSP00000267082:p.Asp722Ala					ITGB7_ENST00000338737.4_Missense_Mutation_p.D574A|ITGB7_ENST00000422257.3_Missense_Mutation_p.D722A|ITGB7_ENST00000550743.2_Missense_Mutation_p.D574A	p.D722A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			15	2396	-			722					Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.2165A>C	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.740191	0.49045	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.91011	-2.69;-2.69;-2.77	4.73	4.73	0.59995	Integrin beta subunit, tail (1);	0.155567	0.30383	N	0.009756	D	0.87257	0.6132	L	0.55103	1.725	0.31591	N	0.653876	B	0.33413	0.411	B	0.32090	0.14	D	0.88969	0.3399	10	0.72032	D	0.01	.	10.9316	0.47222	0.0:0.0:0.0:1.0	.	722	P26010	ITB7_HUMAN	A	722;722;574	ENSP00000408741:D722A;ENSP00000267082:D722A;ENSP00000345501:D574A	ENSP00000267082:D722A	D	-	2	0	ITGB7	51872061	0.997000	0.39634	0.950000	0.38849	0.407000	0.30961	3.180000	0.50895	1.915000	0.55452	0.459000	0.35465	GAC		0.597	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			9	13	0	0	0	1	0	9	13				
AIM1	202	broad.mit.edu	37	6	106969187	106969187	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969187A>G	ENST00000369066.3	+	2	3367	c.2880A>G	c.(2878-2880)gaA>gaG	p.E960E		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATGATATGGAAAAGGCTAATC	0.363																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2878-2880)gaA>gaG		absent in melanoma 1							66.0	69.0	68.0					6																	106969187		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106969187A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2880A>G	6.37:g.106969187A>G							p.E960E	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3367	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	960					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.2880A>G	CCDS34506.1																																																																																				0.363	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			5	62	0	0	0	1	0	5	62				
FCRL5	83416	broad.mit.edu	37	1	157494299	157494299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157494299G>T	ENST00000361835.3	-	10	2166	c.2009C>A	c.(2008-2010)gCt>gAt	p.A670D	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368191.3_Missense_Mutation_p.A585D|FCRL5_ENST00000356953.4_Missense_Mutation_p.A670D|FCRL5_ENST00000368190.3_Missense_Mutation_p.A670D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	670	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCCCACCACAGCCTGGGCCCT	0.527																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2008-2010)gCt>gAt		Fc receptor-like 5							46.0	52.0	50.0					1																	157494299		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494299G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2009C>A	1.37:g.157494299G>T	ENSP00000354691:p.Ala670Asp					FCRL5_ENST00000356953.4_Missense_Mutation_p.A670D|FCRL5_ENST00000368190.3_Missense_Mutation_p.A670D|FCRL5_ENST00000368191.3_Missense_Mutation_p.A585D	p.A670D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			10	2166	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	670			Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2009C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013413	0.35511	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	4.27	3.32	0.38043	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13670	0.0331	H	0.95712	3.71	0.25886	N	0.983531	D;P;D;P	0.69078	0.991;0.859;0.997;0.887	D;P;D;P	0.70227	0.931;0.492;0.968;0.823	T	0.10941	-1.0608	9	0.87932	D	0	.	9.2463	0.37527	0.0:0.0:0.784:0.216	.	585;670;670;670	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	D	670;670;670;585	ENSP00000354691:A670D;ENSP00000349434:A670D;ENSP00000357173:A670D;ENSP00000357174:A585D	ENSP00000349434:A670D	A	-	2	0	FCRL5	155760923	0.001000	0.12720	0.665000	0.29768	0.238000	0.25445	0.518000	0.22847	1.085000	0.41206	0.555000	0.69702	GCT		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		5	41	1	0	0.0215528	1	0.0221649	5	41				
SPATA2L	124044	broad.mit.edu	37	16	89764095	89764095	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764095A>G	ENST00000289805.5	-	3	990	c.922T>C	c.(922-924)Tcc>Ccc	p.S308P	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	308										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAGAGGAAGGAGAAGGCGGAA	0.692																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(922-924)Tcc>Ccc		spermatogenesis associated 2-like							32.0	34.0	33.0					16																	89764095		2197	4300	6497	SO:0001583	missense	124044							g.chr16:89764095A>G	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.922T>C	16.37:g.89764095A>G	ENSP00000289805:p.Ser308Pro					SPATA2L_ENST00000335360.7_Intron	p.S308P	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	990	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	308					D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	37	c.922T>C	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556936	0.45590	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.83	4.83	0.62350	.	0.434827	0.23132	N	0.051571	T	0.64327	0.2588	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.63690	-0.6580	9	0.42905	T	0.14	.	11.9058	0.52711	1.0:0.0:0.0:0.0	.	308	Q8IUW3	SPA2L_HUMAN	P	308	.	ENSP00000289805:S308P	S	-	1	0	SPATA2L	88291596	1.000000	0.71417	0.978000	0.43139	0.062000	0.15995	5.486000	0.66856	1.799000	0.52666	0.379000	0.24179	TCC		0.692	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		3	27	0	0	0	1	0	3	27				
OLFML2B	25903	broad.mit.edu	37	1	161967893	161967893	+	Missense_Mutation	SNP	G	G	A	rs140535952	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161967893G>A	ENST00000294794.3	-	6	1619	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S400L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	399					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGAGACACCGAGGTTGTTTG	0.627																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1195-1197)tCg>tTg		olfactomedin-like 2B		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	142.0	150.0	147.0		1196	2.7	0.0	1	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense	OLFML2B	NM_015441.1	145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	399/751	161967893	2,13004	2203	4300	6503	SO:0001583	missense	25903							g.chr1:161967893G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1196C>T	1.37:g.161967893G>A	ENSP00000294794:p.Ser399Leu					OLFML2B_ENST00000367940.2_Missense_Mutation_p.S400L	p.S399L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1619	-	all_hematologic(112;0.156)		399					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1196C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280633	0.23392	2.27E-4	1.16E-4	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86769	-2.17;-2.17	4.62	2.71	0.32032	.	.	.	.	.	T	0.60983	0.2311	N	0.24115	0.695	0.28396	N	0.918879	B;B	0.11235	0.004;0.004	B;B	0.06405	0.001;0.002	T	0.33727	-0.9857	8	0.27082	T	0.32	.	7.7709	0.29008	0.0921:0.1648:0.7431:0.0	.	400;399	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	399;400	ENSP00000294794:S399L;ENSP00000356917:S400L	ENSP00000294794:S399L	S	-	2	0	OLFML2B	160234517	0.044000	0.20184	0.005000	0.12908	0.005000	0.04900	1.643000	0.37217	0.532000	0.28657	0.462000	0.41574	TCG		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		7	108	0	0	0	1	0	7	108				
PAX4	5078	broad.mit.edu	37	7	127255455	127255455	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127255455C>A	ENST00000463946.1	-	0	269				PAX4_ENST00000378740.2_Splice_Site_p.K40N|PAX4_ENST00000341640.2_Splice_Site_p.K40N|PAX4_ENST00000338516.3_Splice_Site_p.K48N			O43316	PAX4_HUMAN	paired box 4						cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCCCATTACCTTAAGGATCC	0.592																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000463946.1																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35								paired box 4							81.0	82.0	82.0					7																	127255455		2203	4300	6503			5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255455C>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000463946.1:c.-192G>T	7.37:g.127255455C>A						PAX4_ENST00000338516.3_Splice_Site_p.K48_splice|PAX4_ENST00000341640.2_Splice_Site_p.K40_splice|PAX4_ENST00000378740.2_Splice_Site_p.K40_splice				O43316	PAX4_HUMAN			0	269	-								O95161|Q6B0H0	Translation_Start_Site	SNP	ENST00000463946.1	37			.	.	.	.	.	.	.	.	.	.	C	25.0	4.593370	0.86953	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	D;D	0.99298	-5.71;-5.71	5.73	5.73	0.89815	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.052620	0.85682	D	0.000000	D	0.97589	0.9210	L	0.41415	1.275	0.58432	D	0.999999	P;B	0.36144	0.539;0.218	B;B	0.33799	0.17;0.14	D	0.97988	1.0353	9	.	.	.	.	17.4002	0.87458	0.0:1.0:0.0:0.0	.	40;48	O43316-4;O43316	.;PAX4_HUMAN	N	40;48;48	ENSP00000339906:K40N;ENSP00000344297:K48N	.	K	-	3	2	PAX4	127042691	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.381000	0.79718	2.693000	0.91896	0.655000	0.94253	AAG		0.592	PAX4-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349166.2			26	66	1	0	1.26454e-06	1	1.46825e-06	26	66				
IL23R	149233	broad.mit.edu	37	1	67633832	67633832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67633832C>T	ENST00000347310.5	+	2	200	c.29C>T	c.(28-30)gCa>gTa	p.A10V	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.A10V	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	10					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAATGGGATGCAGTAATAGCC	0.343																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(28-30)gCa>gTa		interleukin 23 receptor							225.0	192.0	203.0					1																	67633832		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67633832C>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.29C>T	1.37:g.67633832C>T	ENSP00000321345:p.Ala10Val					C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.A10V	p.A10V	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			2	200	+			10					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.29C>T	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.283587	0.00251	.	.	ENSG00000162594	ENST00000347310;ENST00000371002	D;D	0.82526	-1.62;-1.62	5.41	3.04	0.35103	.	0.249386	0.32386	N	0.006171	T	0.19805	0.0476	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48091	-0.9065	10	0.02654	T	1	-37.121	8.2373	0.31634	0.0:0.1154:0.0:0.8846	.	10	Q5VWK5	IL23R_HUMAN	V	10	ENSP00000321345:A10V;ENSP00000360041:A10V	ENSP00000321345:A10V	A	+	2	0	IL23R	67406420	0.269000	0.24143	0.001000	0.08648	0.001000	0.01503	0.759000	0.26461	0.274000	0.22072	-0.216000	0.12614	GCA		0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		49	69	0	0	0	1	0	49	69				
SFRP2	6423	broad.mit.edu	37	4	154709570	154709570	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154709570G>T	ENST00000274063.4	-	1	702	c.418C>A	c.(418-420)Ctt>Att	p.L140I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	140	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCGCACTCAAGCATGTCGGGC	0.642																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(418-420)Ctt>Att		secreted frizzled-related protein 2							81.0	84.0	83.0					4																	154709570		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709570G>T	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.418C>A	4.37:g.154709570G>T	ENSP00000274063:p.Leu140Ile						p.L140I	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	702	-	all_hematologic(180;0.093)	Renal(120;0.117)	140			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.418C>A	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511478	0.85389	.	.	ENSG00000145423	ENST00000274063	T	0.63913	-0.07	5.09	4.22	0.49857	Frizzled domain (5);	0.063358	0.64402	N	0.000004	T	0.80571	0.4648	M	0.87038	2.855	0.80722	D	1	D	0.61080	0.989	D	0.68039	0.955	D	0.84661	0.0706	10	0.87932	D	0	.	14.9234	0.70856	0.0:0.0:0.8556:0.1444	.	140	Q96HF1	SFRP2_HUMAN	I	140	ENSP00000274063:L140I	ENSP00000274063:L140I	L	-	1	0	SFRP2	154929020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.513000	0.73742	1.205000	0.43262	0.585000	0.79938	CTT		0.642	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			5	70	1	0	0.0381472	1	0.0390147	5	70				
GCNT4	51301	broad.mit.edu	37	5	74324682	74324682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74324682C>T	ENST00000322348.4	-	1	2042	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	394					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTCTGCAGCTCCATAAATACA	0.403																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(1180-1182)gGa>gAa		glucosaminyl (N-acetyl) transferase 4, core 2							95.0	92.0	93.0					5																	74324682		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324682C>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1181G>A	5.37:g.74324682C>T	ENSP00000317027:p.Gly394Glu						p.G394E	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	2042	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	394						Missense_Mutation	SNP	ENST00000322348.4	37	c.1181G>A	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.691363	0.88735	.	.	ENSG00000176928	ENST00000322348	T	0.12879	2.64	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57481	-0.7804	10	0.87932	D	0	-15.5206	20.6244	0.99512	0.0:1.0:0.0:0.0	.	394	Q9P109	GCNT4_HUMAN	E	394	ENSP00000317027:G394E	ENSP00000317027:G394E	G	-	2	0	GCNT4	74360438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.807000	0.86032	2.879000	0.98667	0.650000	0.86243	GGA		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		39	44	0	0	0	1	0	39	44				
SLC45A3	85414	broad.mit.edu	37	1	205628524	205628524	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628524C>T	ENST00000367145.3	-	5	1795	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	500					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCTGGGACAGCAGGAAGGCAC	0.637			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(1498-1500)ctG>ctA		solute carrier family 45, member 3							64.0	57.0	60.0					1																	205628524		2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205628524C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1500G>A	1.37:g.205628524C>T			OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_ENST00000460934.1_5'UTR	p.L500L	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1795	-	Breast(84;0.07)		500					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.1500G>A	CCDS1458.1																																																																																				0.637	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		12	16	0	0	0	1	0	12	16				
HDAC9	9734	broad.mit.edu	37	7	18625144	18625144	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:18625144A>C	ENST00000432645.2	+	2	263	c.263A>C	c.(262-264)aAg>aCg	p.K88T	HDAC9_ENST00000524023.1_Splice_Site_p.K57T|HDAC9_ENST00000428307.2_Splice_Site_p.K88T|HDAC9_ENST00000401921.1_Splice_Site_p.K88T|HDAC9_ENST00000456174.2_Splice_Site_p.K57T|HDAC9_ENST00000406451.4_Splice_Site_p.K88T|HDAC9_ENST00000417496.2_Splice_Site_p.K130T|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Splice_Site_p.K116T|HDAC9_ENST00000441542.2_Splice_Site_p.K88T|HDAC9_ENST00000405010.3_Splice_Site_p.K88T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	88					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGCATATCAAGGTAGCAAAT	0.502																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.e3+1		histone deacetylase 9	Valproic Acid(DB00313)						38.0	39.0	39.0					7																	18625144		2107	4236	6343	SO:0001630	splice_region_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18625144A>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.264+1A>C	7.37:g.18625144A>C						HDAC9_ENST00000456174.2_Splice_Site_p.K57_splice|HDAC9_ENST00000406072.1_Splice_Site_p.K116_splice|HDAC9_ENST00000441542.2_Splice_Site_p.K88_splice|HDAC9_ENST00000428307.2_Splice_Site_p.K88_splice|HDAC9_ENST00000432645.2_Splice_Site_p.K88_splice|HDAC9_ENST00000401921.1_Splice_Site_p.K88_splice|HDAC9_ENST00000524023.1_Splice_Site_p.K57_splice|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Splice_Site_p.K130_splice|HDAC9_ENST00000405010.3_Splice_Site_p.K88_splice	p.K88_splice	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			3	413	+	all_lung(11;0.187)		88					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	SNP	ENST00000432645.2	37	c.264_splice	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	33	5.208374	0.95033	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62639	0.5;0.37;0.57;0.58;0.07;0.57;0.54;0.01;0.07;0.09;0.39;0.62;0.6	5.71	5.71	0.89125	Histone deacetylase, glutamine rich N-terminal domain (1);	0.183951	0.38272	N	0.001759	T	0.78547	0.4300	M	0.72353	2.195	0.46317	D	0.998986	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.997;0.998;0.998;0.997;0.997;0.997;0.996;0.998;0.997;0.997;0.998	T	0.80480	-0.1364	10	0.62326	D	0.03	-24.9044	15.9781	0.80086	1.0:0.0:0.0:0.0	.	57;57;88;116;130;88;88;88;88;57;88;88;107	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	T	130;133;88;88;57;88;88;88;116;88;88;88;57;57;57;88	ENSP00000401669:K130T;ENSP00000412497:K88T;ENSP00000392564:K88T;ENSP00000384382:K88T;ENSP00000384657:K88T;ENSP00000395655:K88T;ENSP00000384017:K116T;ENSP00000383912:K88T;ENSP00000410337:K88T;ENSP00000408617:K88T;ENSP00000404763:K57T;ENSP00000388568:K57T;ENSP00000430036:K57T	ENSP00000262069:K133T	K	+	2	0	HDAC9	18591669	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.171000	0.68590	0.533000	0.62120	AAG		0.502	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		Missense_Mutation	4	27	0	0	0	1	0	4	27				
KITLG	4254	broad.mit.edu	37	12	88926274	88926274	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88926274T>C	ENST00000228280.5	-	3	318	c.136A>G	c.(136-138)Aat>Gat	p.N46D	KITLG_ENST00000347404.5_Missense_Mutation_p.N46D|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	46					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTTGGAAGATTTGCCACCTAC	0.328									Testicular Cancer, Familial Clustering of																													ENST00000347404.5																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						c.(136-138)Aat>Gat		KIT ligand							102.0	109.0	107.0					12																	88926274		2203	4300	6503	SO:0001583	missense	4254	Testicular Cancer, Familial Clustering of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88926274T>C	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.136A>G	12.37:g.88926274T>C	ENSP00000228280:p.Asn46Asp					KITLG_ENST00000228280.5_Missense_Mutation_p.N46D|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR	p.N46D	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN			3	708	-			46					A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.136A>G	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054576	0.75960	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.74106	-0.81;-0.81	5.34	5.34	0.76211	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	L	0.55743	1.74	0.46096	D	0.998861	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.81326	-0.0983	10	0.41790	T	0.15	-17.8663	11.9978	0.53214	0.0:0.0:0.0:1.0	.	46;46	P21583-2;P21583	.;SCF_HUMAN	D	11;46;46	ENSP00000228280:N46D;ENSP00000054216:N46D	ENSP00000228280:N46D	N	-	1	0	KITLG	87450405	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.006000	0.57083	2.135000	0.66039	0.528000	0.53228	AAT		0.328	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		6	88	0	0	0	1	0	6	88				
C19orf26	255057	broad.mit.edu	37	19	1231256	1231256	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231256T>C	ENST00000382477.2	-	9	1332	c.1058A>G	c.(1057-1059)cAc>cGc	p.H353R	C19orf26_ENST00000590083.1_Missense_Mutation_p.H333R|C19orf26_ENST00000215376.6_Missense_Mutation_p.H327R			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	353						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGGAAGTGGTGCCGCTT	0.682										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(997-999)cAc>cGc		chromosome 19 open reading frame 26							37.0	40.0	39.0					19																	1231256		2200	4292	6492	SO:0001583	missense	255057					integral to membrane		g.chr19:1231256T>C	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1058A>G	19.37:g.1231256T>C	ENSP00000371917:p.His353Arg	HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Missense_Mutation_p.H327R|C19orf26_ENST00000382477.2_Missense_Mutation_p.H353R	p.H333R			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1290	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	353					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.998A>G		.	.	.	.	.	.	.	.	.	.	.	16.30	3.085806	0.55861	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	T;T	0.14144	2.53;2.53	4.46	4.46	0.54185	.	0.165330	0.43416	D	0.000579	T	0.14700	0.0355	L	0.54323	1.7	0.39792	D	0.972451	P	0.43352	0.804	B	0.38225	0.268	T	0.04551	-1.0943	10	0.52906	T	0.07	.	12.6889	0.56964	0.0:0.0:0.0:1.0	.	327	Q8N350-2	.	R	353;327	ENSP00000371917:H353R;ENSP00000215376:H327R	ENSP00000215376:H327R	H	-	2	0	C19orf26	1182256	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.209000	0.42806	1.877000	0.54381	0.444000	0.29173	CAC		0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		6	55	0	0	0	1	0	6	55				
KLK4	9622	broad.mit.edu	37	19	51411961	51411961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51411961G>T	ENST00000324041.1	-	3	348	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	KLK4_ENST00000431178.2_Missense_Mutation_p.L68I|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	117	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		ATGAGCATGAGGTCGTTAGCG	0.597																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(349-351)Ctc>Atc		kallikrein-related peptidase 4							134.0	99.0	111.0					19																	51411961		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51411961G>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.349C>A	19.37:g.51411961G>T	ENSP00000326159:p.Leu117Ile					KLK4_ENST00000431178.2_Missense_Mutation_p.L68I	p.L117I	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	3	348	-		all_neural(266;0.026)	117			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.349C>A	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	7.533	0.659085	0.14645	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.90069	-2.61;-2.61	3.82	2.76	0.32466	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.225951	0.22855	N	0.054817	T	0.75236	0.3822	N	0.00368	-1.59	0.29910	N	0.823643	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71712	-0.4510	10	0.02654	T	1	.	8.8903	0.35429	0.0:0.0:0.5562:0.4438	.	68;117	Q96JD7;Q9Y5K2	.;KLK4_HUMAN	I	117;68	ENSP00000326159:L117I;ENSP00000399448:L68I	ENSP00000326159:L117I	L	-	1	0	KLK4	56103773	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	0.509000	0.22707	0.888000	0.36160	-0.425000	0.05940	CTC		0.597	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		8	61	1	0	5.18039e-06	1	5.91835e-06	8	61				
PKNOX1	5316	broad.mit.edu	37	21	44445056	44445056	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44445056T>G	ENST00000291547.5	+	9	1136	c.925T>G	c.(925-927)Tgg>Ggg	p.W309G	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Splice_Site_p.W192G	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	309					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGTCAACAACTGGTAAGGTGC	0.438																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.e9+1		PBX/knotted 1 homeobox 1							145.0	123.0	130.0					21																	44445056		2203	4300	6503	SO:0001630	splice_region_variant	5316						sequence-specific DNA binding	g.chr21:44445056T>G		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.926+1T>G	21.37:g.44445056T>G						PKNOX1_ENST00000432907.2_Splice_Site_p.W192_splice|PKNOX1_ENST00000607150.1_3'UTR	p.W309_splice	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			9	1136	+			309					O00528|Q8IWT7	Splice_Site	SNP	ENST00000291547.5	37	c.926_splice	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024705	0.75390	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.98901	-5.22;-5.22	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.122948	0.64402	D	0.000012	D	0.99536	0.9834	H	0.99225	4.475	0.80722	D	1	D;B	0.76494	0.999;0.449	D;B	0.79108	0.992;0.329	D	0.97772	1.0227	10	0.87932	D	0	-13.7403	14.1816	0.65578	0.0:0.0:0.0:1.0	.	309;309	P55347;P55347-2	PKNX1_HUMAN;.	G	309;192	ENSP00000291547:W309G;ENSP00000402243:W192G	ENSP00000291547:W309G	W	+	1	0	PKNOX1	43318125	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.303000	0.78871	2.093000	0.63338	0.459000	0.35465	TGG		0.438	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3		Missense_Mutation	27	34	0	0	0	1	0	27	34				
UBE3B	89910	broad.mit.edu	37	12	109945392	109945392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109945392C>T	ENST00000342494.3	+	15	2069	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	UBE3B_ENST00000434735.2_Missense_Mutation_p.L492F|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.L492F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	492					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATGACCTGCTTCCCAAACT	0.493																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1474-1476)Ctt>Ttt		ubiquitin protein ligase E3B							128.0	124.0	125.0					12																	109945392		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109945392C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1474C>T	12.37:g.109945392C>T	ENSP00000340596:p.Leu492Phe					UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.L492F|UBE3B_ENST00000434735.2_Missense_Mutation_p.L492F	p.L492F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			15	2069	+			492					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1474C>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701084	0.68501	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.60672	0.58;0.17;0.85;0.58	5.55	4.66	0.58398	.	0.145769	0.46758	D	0.000277	T	0.72827	0.3509	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.75405	-0.3329	10	0.87932	D	0	-2.0949	9.201	0.37258	0.0:0.8348:0.0:0.1652	.	492	Q7Z3V4	UBE3B_HUMAN	F	492	ENSP00000391529:L492F;ENSP00000280774:L492F;ENSP00000443131:L492F;ENSP00000340596:L492F	ENSP00000280774:L492F	L	+	1	0	UBE3B	108429775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.756000	0.38390	1.342000	0.45619	0.655000	0.94253	CTT		0.493	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		31	70	0	0	0	1	0	31	70				
LTK	4058	broad.mit.edu	37	15	41797252	41797252	+	Missense_Mutation	SNP	C	C	T	rs145997165		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797252C>T	ENST00000263800.6	-	16	2032	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	LTK_ENST00000453182.2_Missense_Mutation_p.A516T|LTK_ENST00000355166.5_Missense_Mutation_p.A585T|LTK_ENST00000561619.1_Missense_Mutation_p.A344T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGTTCCGGGCGGCAATATCC	0.527										TSP Lung(18;0.14)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		18632	0.0		0.0	False		,,,				2504	0.0					ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(1936-1938)Gcc>Acc		leukocyte receptor tyrosine kinase		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	33.0	34.0	33.0		1546,1936,1753	2.6	1.0	15	dbSNP_134	33	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	58,58,58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	516/735,646/865,585/804	41797252	3,13003	2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797252C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1936G>A	15.37:g.41797252C>T	ENSP00000263800:p.Ala646Thr	TSP Lung(18;0.14)				LTK_ENST00000561619.1_Missense_Mutation_p.A344T|LTK_ENST00000453182.2_Missense_Mutation_p.A516T|LTK_ENST00000355166.5_Missense_Mutation_p.A585T	p.A646T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	16	2032	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	646			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1936G>A	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937336	0.52972	2.27E-4	2.33E-4	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;T	0.89875	-2.58;-2.58;-0.08	4.58	2.62	0.31277	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32703	U	0.005755	D	0.90456	0.7011	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.99;0.996;1.0	P;B;P;D	0.78314	0.893;0.358;0.722;0.991	D	0.88370	0.2994	10	0.62326	D	0.03	.	7.5869	0.27998	0.1611:0.7466:0.0:0.0923	.	516;516;585;646	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	T	585;646;516	ENSP00000347293:A585T;ENSP00000263800:A646T;ENSP00000392196:A516T	ENSP00000263800:A646T	A	-	1	0	LTK	39584544	0.964000	0.33143	0.987000	0.45799	0.568000	0.35870	2.220000	0.42908	0.500000	0.27991	0.650000	0.86243	GCC		0.527	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			6	20	0	0	0	1	0	6	20				
GRASP	160622	broad.mit.edu	37	12	52404840	52404840	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52404840C>T	ENST00000293662.4	+	4	449	c.369C>T	c.(367-369)caC>caT	p.H123H	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_5'UTR|GRASP_ENST00000380039.2_5'Flank	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	123	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCCTTCACCACCGGGAGGAGC	0.617																																						ENST00000293662.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(367-369)caC>caT		GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein							171.0	156.0	161.0					12																	52404840		2203	4300	6503	SO:0001819	synonymous_variant	160622					cell junction|perinuclear region of cytoplasm|postsynaptic membrane		g.chr12:52404840C>T	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.369C>T	12.37:g.52404840C>T						GRASP_ENST00000552049.1_5'UTR|GRASP_ENST00000552963.1_3'UTR	p.H123H	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	4	449	+			123			PDZ.		Q6PIF8|Q7Z741	Silent	SNP	ENST00000293662.4	37	c.369C>T	CCDS8817.1																																																																																				0.617	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			6	142	0	0	0	1	0	6	142				
COG7	91949	broad.mit.edu	37	16	23400310	23400310	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23400310T>C	ENST00000307149.5	-	17	2429	c.2244A>G	c.(2242-2244)agA>agG	p.R748R	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	748					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGCTGACCTGTCTATAGTCCT	0.617																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2242-2244)agA>agG		component of oligomeric golgi complex 7							101.0	82.0	88.0					16																	23400310		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23400310T>C	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2244A>G	16.37:g.23400310T>C							p.R748R	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2429	-			748					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.2244A>G	CCDS10610.1																																																																																				0.617	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			18	49	0	0	0	1	0	18	49				
WRN	7486	broad.mit.edu	37	8	30945300	30945300	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30945300A>T	ENST00000298139.5	+	12	1689	c.1440A>T	c.(1438-1440)gaA>gaT	p.E480D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	480					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGTCTTTAGAAAACCTCAATA	0.343			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1438-1440)gaA>gaT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							109.0	117.0	114.0					8																	30945300		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945300A>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1440A>T	8.37:g.30945300A>T	ENSP00000298139:p.Glu480Asp						p.E480D	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1689	+		Breast(100;0.195)	480					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1440A>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879984	0.33162	.	.	ENSG00000165392	ENST00000298139	T	0.48836	0.8	5.07	3.91	0.45181	.	0.109676	0.64402	D	0.000007	T	0.41627	0.1167	M	0.70275	2.135	0.32608	N	0.525013	P	0.48230	0.907	B	0.37346	0.247	T	0.58825	-0.7568	10	0.49607	T	0.09	-27.4958	8.1729	0.31264	0.9067:0.0:0.0933:0.0	.	480	Q14191	WRN_HUMAN	D	480	ENSP00000298139:E480D	ENSP00000298139:E480D	E	+	3	2	WRN	31064842	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	4.550000	0.60733	1.023000	0.39654	-0.297000	0.09499	GAA		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			37	74	0	0	0	1	0	37	74				
PANX2	56666	broad.mit.edu	37	22	50617667	50617667	+	Silent	SNP	C	C	T	rs547320605		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50617667C>T	ENST00000395842.2	+	3	1995	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	PANX2_ENST00000159647.5_Missense_Mutation_p.S637L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	665					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCGCCACCTTCGACGAGCCGA	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		14342	0.0		0.001	False		,,,				2504	0.0					ENST00000159647.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1909-1911)tCg>tTg		pannexin 2							50.0	43.0	46.0					22																	50617667		2203	4298	6501	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617667C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1995C>T	22.37:g.50617667C>T						PANX2_ENST00000395842.2_Silent_p.F665F	p.S637L	NM_001160300.1	NP_001153772.1	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	4	1910	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	0					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1910C>T	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029091	0.35797	.	.	ENSG00000073150	ENST00000159647	T	0.23552	1.9	3.72	-2.41	0.06562	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06807	-1.0806	8	0.87932	D	0	-9.9217	10.5669	0.45177	0.0:0.2506:0.0:0.7494	.	637	Q96RD6-1	.	L	637	ENSP00000159647:S637L	ENSP00000159647:S637L	S	+	2	0	PANX2	48959794	0.180000	0.23148	0.950000	0.38849	0.323000	0.28346	-0.988000	0.03739	-0.478000	0.06823	0.313000	0.20887	TCG		0.692	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		3	21	0	0	0	1	0	3	21				
OSBPL1A	114876	broad.mit.edu	37	18	21957415	21957415	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21957415A>G	ENST00000319481.3	-	2	289	c.83T>C	c.(82-84)aTg>aCg	p.M28T	OSBPL1A_ENST00000582618.1_5'UTR|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.M28T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	28	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTCCTCGCCATGGTCTCTAA	0.373																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(82-84)aTg>aCg		oxysterol binding protein-like 1A							180.0	144.0	157.0					18																	21957415		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21957415A>G	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.83T>C	18.37:g.21957415A>G	ENSP00000320291:p.Met28Thr					OSBPL1A_ENST00000399441.4_Missense_Mutation_p.M28T|OSBPL1A_ENST00000582618.1_5'UTR	p.M28T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			2	289	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		28					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.83T>C	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	A	2.213	-0.380344	0.05000	.	.	ENSG00000141447	ENST00000319481;ENST00000399441	T;T	0.63417	-0.04;-0.04	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.849830	0.10737	N	0.639910	T	0.39384	0.1076	N	0.04063	-0.285	0.29233	N	0.873166	B	0.14012	0.009	B	0.18871	0.023	T	0.28004	-1.0057	10	0.21540	T	0.41	-4.6579	9.696	0.40158	0.8449:0.0:0.0:0.1551	.	28	Q9BXW6	OSBL1_HUMAN	T	28	ENSP00000320291:M28T;ENSP00000382370:M28T	ENSP00000320291:M28T	M	-	2	0	OSBPL1A	20211413	0.964000	0.33143	0.289000	0.24876	0.112000	0.19704	4.510000	0.60455	2.093000	0.63338	0.533000	0.62120	ATG		0.373	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		16	39	0	0	0	1	0	16	39				
RARS	5917	broad.mit.edu	37	5	167919797	167919797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167919797G>A	ENST00000231572.3	+	3	368	c.314G>A	c.(313-315)aGt>aAt	p.S105N	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	105					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GTGACACCAAGTCAGCAGGCC	0.398																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(313-315)aGt>aAt		arginyl-tRNA synthetase							145.0	146.0	146.0					5																	167919797		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167919797G>A	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.314G>A	5.37:g.167919797G>A	ENSP00000231572:p.Ser105Asn					RARS_ENST00000538719.1_5'UTR	p.S105N	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	3	368	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	105					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.314G>A	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201529	0.79015	.	.	ENSG00000113643	ENST00000231572	T	0.44482	0.92	5.66	5.66	0.87406	Arginyl tRNA synthetase, class Ia, N-terminal (3);	0.042032	0.85682	D	0.000000	T	0.49864	0.1582	M	0.65677	2.01	0.80722	D	1	B	0.20887	0.049	B	0.30105	0.111	T	0.46816	-0.9164	10	0.54805	T	0.06	-1.8564	19.7468	0.96255	0.0:0.0:1.0:0.0	.	105	P54136	SYRC_HUMAN	N	105	ENSP00000231572:S105N	ENSP00000231572:S105N	S	+	2	0	RARS	167852375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.993000	0.63895	2.678000	0.91216	0.563000	0.77884	AGT		0.398	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		8	106	0	0	0	1	0	8	106				
PIBF1	10464	broad.mit.edu	37	13	73505372	73505372	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73505372T>G	ENST00000326291.6	+	14	2138	c.1800T>G	c.(1798-1800)caT>caG	p.H600Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	600				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659). {ECO:0000305}.		centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCTGGAACATCGAAAGGACC	0.313																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1798-1800)caT>caG		progesterone immunomodulatory binding factor 1							51.0	52.0	51.0					13																	73505372		2203	4297	6500	SO:0001583	missense	10464					centrosome		g.chr13:73505372T>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1800T>G	13.37:g.73505372T>G	ENSP00000317144:p.His600Gln						p.H600Q	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2138	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	600	DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).				O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1800T>G	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493004	0.26774	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.19938	2.11	5.65	4.45	0.53987	.	0.333223	0.35805	N	0.002971	T	0.12347	0.0300	N	0.14661	0.345	0.41614	D	0.988925	B;B	0.17667	0.023;0.023	B;B	0.12156	0.007;0.007	T	0.10543	-1.0625	10	0.22706	T	0.39	-11.5401	11.7713	0.51960	0.0:0.0:0.147:0.853	.	600;600	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	Q	600;59	ENSP00000317144:H600Q	ENSP00000317144:H600Q	H	+	3	2	PIBF1	72403373	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.108000	0.64609	1.047000	0.40274	0.533000	0.62120	CAT		0.313	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		5	36	0	0	0	1	0	5	36				
KLHL40	131377	broad.mit.edu	37	3	42728038	42728038	+	Missense_Mutation	SNP	C	C	A	rs554767539		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42728038C>A	ENST00000287777.4	+	1	1028	c.928C>A	c.(928-930)Ctg>Atg	p.L310M		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	310					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CAATGACACCCTGCGCTTCGG	0.577																																						ENST00000287777.4																			0											c.(928-930)Ctg>Atg		kelch-like family member 40							164.0	160.0	161.0					3																	42728038		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42728038C>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.928C>A	3.37:g.42728038C>A	ENSP00000287777:p.Leu310Met						p.L310M	NM_152393.2	NP_689606.2					1	1028	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.928C>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	C	6.868	0.529437	0.13127	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.72282	-0.64	5.09	3.08	0.35506	.	0.218798	0.40144	N	0.001161	T	0.50854	0.1640	N	0.20401	0.57	0.33878	D	0.63577	B	0.28552	0.215	B	0.19946	0.027	T	0.58836	-0.7566	10	0.34782	T	0.22	.	9.9789	0.41802	0.1859:0.727:0.0:0.0872	.	310	Q2TBA0	KBTB5_HUMAN	M	310;55	ENSP00000287777:L310M	ENSP00000287777:L310M	L	+	1	2	KBTBD5	42703042	0.979000	0.34478	0.956000	0.39512	0.741000	0.42261	2.646000	0.46630	1.169000	0.42739	-0.136000	0.14681	CTG		0.577	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		46	82	1	0	5.2432e-18	1	6.82318e-18	46	82				
SCUBE1	80274	broad.mit.edu	37	22	43654256	43654256	+	Silent	SNP	G	G	A	rs199833711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43654256G>A	ENST00000360835.4	-	6	822	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SCUBE1_ENST00000290460.7_Silent_p.Y232Y	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	232					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGTGGAGGGCGTACTTCTGGT	0.617													G|||	4	0.000798722	0.0	0.0058	5008	,	,		13410	0.0		0.0	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(694-696)taC>taT		signal peptide, CUB domain, EGF-like 1							114.0	90.0	98.0					22																	43654256		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43654256G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.696C>T	22.37:g.43654256G>A						SCUBE1_ENST00000290460.7_Silent_p.Y232Y	p.Y232Y	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			6	822	-		all_neural(38;0.0414)|Ovarian(80;0.07)	232					Q5R336	Silent	SNP	ENST00000360835.4	37	c.696C>T	CCDS14048.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.810|9.810	1.182803|1.182803	0.21870|0.21870	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000449304|ENST00000381243	.|.	.|.	.|.	4.76|4.76	-2.56|-2.56	0.06268|0.06268	.|.	.|.	.|.	.|.	.|.	T|T	0.59142|0.59142	0.2172|0.2172	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68296|0.68296	-0.5446|-0.5446	4|5	.|0.87932	.|D	.|0	.|.	10.2253|10.2253	0.43222|0.43222	0.7428:0.0:0.2572:0.0|0.7428:0.0:0.2572:0.0	.|.	.|.	.|.	.|.	C|M	56|25	.|.	.|ENSP00000370642:T25M	R|T	-|-	1|2	0|0	SCUBE1|SCUBE1	41984200|41984200	0.998000|0.998000	0.40836|0.40836	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	0.521000|0.521000	0.22893|0.22893	-0.213000|-0.213000	0.10094|0.10094	-0.150000|-0.150000	0.13652|0.13652	CGC|ACG		0.617	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		28	24	0	0	0	1	0	28	24				
RBMS3	27303	broad.mit.edu	37	3	29628682	29628682	+	Missense_Mutation	SNP	G	G	A	rs145048415		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:29628682G>A	ENST00000383767.2	+	4	721	c.385G>A	c.(385-387)Gca>Aca	p.A129T	RBMS3_ENST00000456853.1_Missense_Mutation_p.A129T|RBMS3_ENST00000445033.1_Missense_Mutation_p.A129T|RBMS3_ENST00000452462.1_Missense_Mutation_p.A129T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A129T|RBMS3_ENST00000434693.2_Missense_Mutation_p.A128T|RBMS3_ENST00000383766.2_Missense_Mutation_p.A128T|RBMS3_ENST00000273139.9_Missense_Mutation_p.A129T			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGGCGTGCAGGCACAGATGGC	0.418																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(382-384)Gca>Aca		RNA binding motif, single stranded interacting protein 3		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	134.0	135.0	135.0		382,385,385,385,385	5.8	1.0	3	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	RBMS3	NM_001003792.2,NM_001003793.2,NM_001177711.1,NM_001177712.1,NM_014483.3	58,58,58,58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	128/420,129/438,129/422,129/434,129/421	29628682	2,13004	2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29628682G>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.385G>A	3.37:g.29628682G>A	ENSP00000373277:p.Ala129Thr					RBMS3_ENST00000273139.9_Missense_Mutation_p.A129T|RBMS3_ENST00000383766.2_Missense_Mutation_p.A128T|RBMS3_ENST00000452462.1_Missense_Mutation_p.A129T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A129T|RBMS3_ENST00000383767.2_Missense_Mutation_p.A129T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A129T|RBMS3_ENST00000445033.1_Missense_Mutation_p.A129T	p.A128T	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			4	1082	+		Ovarian(412;0.0956)	129			RRM 1.		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.382G>A	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	36	5.810940	0.96975	2.27E-4	1.16E-4	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.28454	1.61;3.38;1.61;1.7;1.62;3.38;1.61;3.38	5.77	5.77	0.91146	RNA recognition motif domain (2);	0.122641	0.53938	D	0.000045	T	0.45895	0.1365	L	0.48642	1.525	0.80722	D	1	B;B;P;P	0.47484	0.22;0.245;0.809;0.896	P;P;P;P	0.55391	0.523;0.618;0.775;0.712	T	0.06534	-1.0821	9	.	.	.	.	19.9655	0.97263	0.0:0.0:1.0:0.0	.	129;129;128;129	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	T	128;129;129;129;129;128;129;129	ENSP00000395592:A128T;ENSP00000379828:A129T;ENSP00000373277:A129T;ENSP00000391934:A129T;ENSP00000273139:A129T;ENSP00000373276:A128T;ENSP00000397926:A129T;ENSP00000400519:A129T	.	A	+	1	0	RBMS3	29603686	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.732000	0.93576	0.542000	0.68232	GCA		0.418	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		13	25	0	0	0	1	0	13	25				
DSP	1832	broad.mit.edu	37	6	7580863	7580863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7580863C>A	ENST00000379802.3	+	23	4781	c.4440C>A	c.(4438-4440)aaC>aaA	p.N1480K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1480	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGATAAAAACAAGGAGATAG	0.428																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4438-4440)aaC>aaA		desmoplakin							102.0	98.0	99.0					6																	7580863		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580863C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4440C>A	6.37:g.7580863C>A	ENSP00000369129:p.Asn1480Lys					DSP_ENST00000418664.2_Intron	p.N1480K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4781	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1480			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4440C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	3.709	-0.060034	0.07317	.	.	ENSG00000096696	ENST00000379802	D	0.91180	-2.8	5.59	4.72	0.59763	.	0.095720	0.46145	D	0.000303	T	0.78591	0.4307	L	0.46157	1.445	0.80722	D	1	P	0.52842	0.956	B	0.41764	0.366	T	0.77838	-0.2439	10	0.12430	T	0.62	.	11.4158	0.49951	0.0:0.8546:0.0:0.1454	.	1480	P15924	DESP_HUMAN	K	1480	ENSP00000369129:N1480K	ENSP00000369129:N1480K	N	+	3	2	DSP	7525862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.232000	0.32636	1.371000	0.46172	0.655000	0.94253	AAC		0.428	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		26	59	1	0	1.5548e-18	1	2.02858e-18	26	59				
SPTB	6710	broad.mit.edu	37	14	65240029	65240029	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65240029T>G	ENST00000389721.5	-	24	5119	c.5087A>C	c.(5086-5088)aAg>aCg	p.K1696T	SPTB_ENST00000556626.1_Missense_Mutation_p.K1696T|SPTB_ENST00000542895.1_Missense_Mutation_p.K1696T|SPTB_ENST00000389720.3_Missense_Mutation_p.K1696T|SPTB_ENST00000389722.3_Missense_Mutation_p.K1696T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1696					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCTCCCGCTTGAGCTGGAA	0.572																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5086-5088)aAg>aCg		spectrin, beta, erythrocytic							119.0	101.0	107.0					14																	65240029		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65240029T>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5087A>C	14.37:g.65240029T>G	ENSP00000374371:p.Lys1696Thr					SPTB_ENST00000556626.1_Missense_Mutation_p.K1696T|SPTB_ENST00000542895.1_Missense_Mutation_p.K1696T|SPTB_ENST00000389720.3_Missense_Mutation_p.K1696T|SPTB_ENST00000389721.5_Missense_Mutation_p.K1696T	p.K1696T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	24	5140	-		all_lung(585;4.15e-09)	1696					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5087A>C	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.240155	0.22711	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.1	5.1	0.69264	.	0.148299	0.64402	D	0.000011	T	0.41673	0.1169	N	0.25380	0.74	0.43988	D	0.996682	B;B;B	0.21821	0.028;0.027;0.061	B;B;B	0.34180	0.136;0.177;0.083	T	0.37244	-0.9714	10	0.51188	T	0.08	.	14.1654	0.65473	0.0:0.0:0.0:1.0	.	480;1696;1700	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	T	1700;1696;480;361;1696;1696;1696;1696	ENSP00000374372:K1696T;ENSP00000451324:K361T;ENSP00000451752:K1696T;ENSP00000374371:K1696T;ENSP00000443882:K1696T;ENSP00000374370:K1696T	ENSP00000334218:K480T	K	-	2	0	SPTB	64309782	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	2.159000	0.42339	2.052000	0.61016	0.459000	0.35465	AAG		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	58	0	0	0	1	0	4	58				
MTMR14	64419	broad.mit.edu	37	3	9714422	9714422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714422T>C	ENST00000296003.4	+	7	853	c.731T>C	c.(730-732)cTc>cCc	p.L244P	MTMR14_ENST00000351233.5_Missense_Mutation_p.L244P|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.L244P	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	244					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GACTTCACTCTCCTCTCCATC	0.532																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(730-732)cTc>cCc		myotubularin related protein 14							143.0	140.0	141.0					3																	9714422		2001	4165	6166	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9714422T>C	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.731T>C	3.37:g.9714422T>C	ENSP00000296003:p.Leu244Pro					MTMR14_ENST00000351233.5_Missense_Mutation_p.L244P|MTMR14_ENST00000353332.5_Missense_Mutation_p.L244P|MTMR14_ENST00000420925.1_Intron	p.L244P	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			7	853	+	Medulloblastoma(99;0.227)		244					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.731T>C	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627146	0.87560	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.91407	-2.84;-2.84;-2.84	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.997;0.98	D	0.95653	0.8708	10	0.87932	D	0	.	15.4546	0.75302	0.0:0.0:0.0:1.0	.	244;244;244	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	P	244	ENSP00000323462:L244P;ENSP00000296003:L244P;ENSP00000334070:L244P	ENSP00000296003:L244P	L	+	2	0	MTMR14	9689422	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.237000	0.78164	2.123000	0.65237	0.533000	0.62120	CTC		0.532	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		36	51	0	0	0	1	0	36	51				
COPS7A	50813	broad.mit.edu	37	12	6838441	6838441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6838441C>A	ENST00000543155.1	+	5	838	c.356C>A	c.(355-357)gCt>gAt	p.A119D	COPS7A_ENST00000534877.1_Missense_Mutation_p.A119D|COPS7A_ENST00000534947.1_Missense_Mutation_p.A119D|COPS7A_ENST00000229251.3_Missense_Mutation_p.A119D|COPS7A_ENST00000539735.1_Missense_Mutation_p.A119D|COPS7A_ENST00000538410.1_Missense_Mutation_p.A119D|COPS7A_ENST00000542150.1_3'UTR	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	119	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCTGGAGGCTCTTGCCCTG	0.577																																						ENST00000543155.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(355-357)gCt>gAt		COP9 signalosome subunit 7A							180.0	146.0	158.0					12																	6838441		2203	4300	6503	SO:0001583	missense	50813				cullin deneddylation	cytoplasm|signalosome		g.chr12:6838441C>A	AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A"", ""COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"""				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.356C>A	12.37:g.6838441C>A	ENSP00000438115:p.Ala119Asp					COPS7A_ENST00000534947.1_Missense_Mutation_p.A119D|COPS7A_ENST00000538410.1_Missense_Mutation_p.A119D|COPS7A_ENST00000534877.1_Missense_Mutation_p.A119D|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000539735.1_Missense_Mutation_p.A119D|COPS7A_ENST00000229251.3_Missense_Mutation_p.A119D	p.A119D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN			5	838	+			119			PCI.		A8K9A6|Q9NVX3|Q9UJW4	Missense_Mutation	SNP	ENST00000543155.1	37	c.356C>A	CCDS8558.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482672	0.44147	.	.	ENSG00000111652	ENST00000543155;ENST00000442593;ENST00000229251;ENST00000539735;ENST00000538410;ENST00000544725;ENST00000534947;ENST00000541866;ENST00000534877;ENST00000538753	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.56	5.56	0.83823	Proteasome component (PCI) domain (2);	0.176651	0.50627	D	0.000112	T	0.21022	0.0506	N	0.19112	0.55	0.34204	D	0.673487	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.005	T	0.16928	-1.0386	10	0.34782	T	0.22	-10.077	12.6081	0.56535	0.2777:0.7223:0.0:0.0	.	119;119	F5H248;Q9UBW8	.;CSN7A_HUMAN	D	119	ENSP00000438115:A119D;ENSP00000229251:A119D;ENSP00000441852:A119D;ENSP00000439547:A119D;ENSP00000446039:A119D;ENSP00000442613:A119D;ENSP00000438363:A119D;ENSP00000440683:A119D	ENSP00000229251:A119D	A	+	2	0	COPS7A	6708702	1.000000	0.71417	0.984000	0.44739	0.885000	0.51271	5.072000	0.64389	2.608000	0.88229	0.655000	0.94253	GCT		0.577	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1			9	81	1	0	1.12685e-05	1	1.27857e-05	9	81				
ZNF182	7569	broad.mit.edu	37	X	47835672	47835672	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47835672T>G	ENST00000396965.1	-	7	2164	c.1814A>C	c.(1813-1815)aAa>aCa	p.K605T	ZNF182_ENST00000305127.6_Missense_Mutation_p.K605T|ZNF182_ENST00000376943.3_Missense_Mutation_p.K586T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTAAAGGCTTTCCCACATTC	0.438																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(1813-1815)aAa>aCa		zinc finger protein 182							151.0	130.0	137.0					X																	47835672		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47835672T>G	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1814A>C	X.37:g.47835672T>G	ENSP00000380165:p.Lys605Thr					ZNF182_ENST00000305127.6_Missense_Mutation_p.K605T|ZNF182_ENST00000376943.3_Missense_Mutation_p.K586T	p.K605T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	2164	-			605					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.1814A>C	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419854	0.62622	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.27890	1.64;1.64;1.64	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59891	0.2227	M	0.88181	2.935	0.41661	D	0.989186	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.998;0.999	T	0.68089	-0.5501	9	0.87932	D	0	.	11.4917	0.50385	0.0:0.0:0.0:1.0	.	585;586;605	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	T	586;605;605	ENSP00000366142:K586T;ENSP00000380165:K605T;ENSP00000306351:K605T	ENSP00000306351:K605T	K	-	2	0	ZNF182	47720616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.754000	0.62191	1.916000	0.55485	0.441000	0.28932	AAA		0.438	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		14	148	0	0	0	1	0	14	148				
DDX25	29118	broad.mit.edu	37	11	125778165	125778165	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125778165C>A	ENST00000263576.6	+	5	541	c.386C>A	c.(385-387)cCt>cAt	p.P129H	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	129					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATGGCTCTCCCTATGATGCTG	0.368																																						ENST00000263576.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(385-387)cCt>cAt		DEAD (Asp-Glu-Ala-Asp) box helicase 25							63.0	64.0	63.0					11																	125778165		1869	4105	5974	SO:0001583	missense	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125778165C>A	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.386C>A	11.37:g.125778165C>A	ENSP00000263576:p.Pro129His					DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	p.P129H	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	5	541	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	129					B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	c.386C>A	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429496	0.43122	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.18960	2.18	5.51	5.51	0.81932	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.074103	0.56097	D	0.000024	T	0.57902	0.2085	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67581	-0.5634	10	0.87932	D	0	-0.9016	19.0328	0.92965	0.0:1.0:0.0:0.0	.	129;129	B4DHI6;Q9UHL0	.;DDX25_HUMAN	H	15;129;15	ENSP00000263576:P129H	ENSP00000263576:P129H	P	+	2	0	DDX25	125283375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.406000	0.80017	2.597000	0.87782	0.591000	0.81541	CCT		0.368	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		3	26	1	0	1	1	1	3	26				
PLEKHG4	25894	broad.mit.edu	37	16	67318663	67318663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67318663G>A	ENST00000360461.5	+	12	4275	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	PLEKHG4_ENST00000427155.2_Silent_p.E580E|PLEKHG4_ENST00000450733.1_Silent_p.E499E|PLEKHG4_ENST00000379344.3_Silent_p.E580E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	580							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGAGCTGGAGCAGGAACGCC	0.632																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1738-1740)gaG>gaA		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							24.0	27.0	26.0					16																	67318663		2198	4298	6496	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318663G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1740G>A	16.37:g.67318663G>A						PLEKHG4_ENST00000427155.2_Silent_p.E580E|PLEKHG4_ENST00000379344.3_Silent_p.E580E|PLEKHG4_ENST00000450733.1_Silent_p.E499E	p.E580E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	4275	+			580					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.1740G>A	CCDS32466.1																																																																																				0.632	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		12	14	0	0	0	1	0	12	14				
ZNF383	163087	broad.mit.edu	37	19	37734511	37734511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37734511C>T	ENST00000589413.1	+	8	1956	c.1373C>T	c.(1372-1374)gCt>gTt	p.A458V	ZNF383_ENST00000352998.3_Missense_Mutation_p.A458V|ZNF383_ENST00000590503.1_Missense_Mutation_p.A458V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAGGCTTTTAGTAGT	0.368																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1372-1374)gCt>gTt		zinc finger protein 383							78.0	82.0	80.0					19																	37734511		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734511C>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1373C>T	19.37:g.37734511C>T	ENSP00000464871:p.Ala458Val					ZNF383_ENST00000590503.1_Missense_Mutation_p.A458V|ZNF383_ENST00000352998.3_Missense_Mutation_p.A458V	p.A458V			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1956	+			458					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1373C>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670878	0.47781	.	.	ENSG00000188283	ENST00000352998	T	0.19105	2.17	3.62	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21801	0.0525	L	0.48877	1.53	0.09310	N	0.999997	P	0.34562	0.457	B	0.37731	0.257	T	0.14671	-1.0464	9	0.72032	D	0.01	.	9.2682	0.37654	0.0:0.7783:0.2217:0.0	.	458	Q8NA42	ZN383_HUMAN	V	458	ENSP00000340132:A458V	ENSP00000340132:A458V	A	+	2	0	ZNF383	42426351	0.005000	0.15991	0.899000	0.35326	0.962000	0.63368	0.294000	0.19047	2.017000	0.59298	0.563000	0.77884	GCT		0.368	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		36	47	0	0	0	1	0	36	47				
NAF1	92345	broad.mit.edu	37	4	164050495	164050495	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164050495C>A	ENST00000274054.2	-	8	1232	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	347					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAGTAAAATCTTCACCTTTG	0.343																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1039-1041)Gat>Tat		nuclear assembly factor 1 ribonucleoprotein							51.0	54.0	53.0					4																	164050495		2203	4300	6503	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050495C>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1039G>T	4.37:g.164050495C>A	ENSP00000274054:p.Asp347Tyr					NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	p.D347Y	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1232	-	all_hematologic(180;0.166)	Prostate(90;0.109)	347					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1039G>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	8.925	0.961976	0.18583	.	.	ENSG00000145414	ENST00000274054	T	0.45668	0.89	4.71	0.99	0.19807	.	0.425163	0.22386	N	0.060743	T	0.19967	0.0480	N	0.17082	0.46	0.36093	D	0.843563	B	0.18863	0.031	B	0.06405	0.002	T	0.10474	-1.0628	10	0.62326	D	0.03	-13.6753	0.8048	0.01082	0.1685:0.39:0.1635:0.278	.	347	Q96HR8	NAF1_HUMAN	Y	347	ENSP00000274054:D347Y	ENSP00000274054:D347Y	D	-	1	0	NAF1	164269945	0.975000	0.34042	0.996000	0.52242	0.618000	0.37518	0.816000	0.27267	0.265000	0.21872	-0.282000	0.10007	GAT		0.343	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		18	37	1	0	1.99824e-07	1	2.35189e-07	18	37				
SCN3B	55800	broad.mit.edu	37	11	123513313	123513313	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123513313C>A	ENST00000392770.2	-	3	1088	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	SCN3B_ENST00000530277.1_Missense_Mutation_p.G96C|SCN3B_ENST00000299333.3_Missense_Mutation_p.G96C	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	96	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTTGCTGCCATTCCACTGC	0.567																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(286-288)Ggc>Tgc		sodium channel, voltage-gated, type III, beta subunit							77.0	74.0	75.0					11																	123513313		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513313C>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.286G>T	11.37:g.123513313C>A	ENSP00000376523:p.Gly96Cys					SCN3B_ENST00000299333.3_Missense_Mutation_p.G96C|SCN3B_ENST00000530277.1_Missense_Mutation_p.G96C	p.G96C	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	1088	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	96			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.286G>T	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324085	0.95708	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85919	0.1445	10	0.87932	D	0	-5.3528	20.5666	0.99351	0.0:1.0:0.0:0.0	.	96	Q9NY72	SCN3B_HUMAN	C	96	ENSP00000376523:G96C;ENSP00000299333:G96C;ENSP00000432785:G96C;ENSP00000435554:G96C	ENSP00000299333:G96C	G	-	1	0	SCN3B	123018523	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.410000	0.80065	2.854000	0.98071	0.655000	0.94253	GGC		0.567	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		5	68	1	0	0.217242	1	0.218821	5	68				
PNMA5	114824	broad.mit.edu	37	X	152159756	152159756	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159756G>A	ENST00000439251.1	-	2	825	c.387C>T	c.(385-387)ctC>ctT	p.L129L	PNMA5_ENST00000452693.1_Silent_p.L129L|PNMA5_ENST00000361887.5_Silent_p.L129L|PNMA5_ENST00000535214.1_Silent_p.L129L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	129					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					tctcggcagggaggctgcaac	0.502																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(385-387)ctC>ctT		paraneoplastic Ma antigen family member 5							139.0	141.0	140.0					X																	152159756		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159756G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.387C>T	X.37:g.152159756G>A						PNMA5_ENST00000452693.1_Silent_p.L129L|PNMA5_ENST00000361887.5_Silent_p.L129L|PNMA5_ENST00000535214.1_Silent_p.L129L	p.L129L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	825	-	Acute lymphoblastic leukemia(192;6.56e-05)		129					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.387C>T	CCDS14718.1																																																																																				0.502	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		17	247	0	0	0	1	0	17	247				
CCR4	1233	broad.mit.edu	37	3	32995243	32995243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32995243G>A	ENST00000330953.5	+	2	497	c.329G>A	c.(328-330)tGc>tAc	p.C110Y		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	110					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTAGGTCTGTGCAAGATGATT	0.488																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(328-330)tGc>tAc		chemokine (C-C motif) receptor 4							311.0	304.0	307.0					3																	32995243		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995243G>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.329G>A	3.37:g.32995243G>A	ENSP00000332659:p.Cys110Tyr						p.C110Y	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	497	+			110					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.329G>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597974	0.66332	.	.	ENSG00000183813	ENST00000330953	T	0.62105	0.05	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	D	0.88403	0.6427	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92118	0.5701	10	0.87932	D	0	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	110	P51679	CCR4_HUMAN	Y	110	ENSP00000332659:C110Y	ENSP00000332659:C110Y	C	+	2	0	CCR4	32970247	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	TGC		0.488	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			95	133	0	0	0	1	0	95	133				
POLR3C	10623	broad.mit.edu	37	1	145595181	145595181	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145595181A>C	ENST00000334163.3	-	12	1421	c.1261T>G	c.(1261-1263)Ttc>Gtc	p.F421V	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	421					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TATAAATAGAAGGTCCTGGAT	0.423																																						ENST00000334163.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1261-1263)Ttc>Gtc		polymerase (RNA) III (DNA directed) polypeptide C (62kD)							163.0	171.0	168.0					1																	145595181		2203	4300	6503	SO:0001583	missense	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145595181A>C	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1261T>G	1.37:g.145595181A>C	ENSP00000334564:p.Phe421Val					POLR3C_ENST00000369294.1_Intron	p.F421V	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		12	1421	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		421					O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	c.1261T>G	CCDS921.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694126	0.88735	.	.	ENSG00000186141	ENST00000334163	T	0.57273	0.41	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.84082	2.675	0.80722	D	1	D;D	0.53312	0.959;0.957	P;P	0.49887	0.625;0.563	T	0.54860	-0.8230	10	0.17832	T	0.49	-15.4254	13.6804	0.62481	1.0:0.0:0.0:0.0	.	421;421	Q9BUI4;Q53F76	RPC3_HUMAN;.	V	421	ENSP00000334564:F421V	ENSP00000334564:F421V	F	-	1	0	POLR3C	144306538	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.631000	0.90991	2.326000	0.78906	0.533000	0.62120	TTC		0.423	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		14	146	0	0	0	1	0	14	146				
POM121L9P	29774	broad.mit.edu	37	22	24659571	24659571	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24659571G>A	ENST00000414583.2	+	0	3096					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCGTCCTGCGCAGGCCAACA	0.597																																						ENST00000414583.2																			0																																																			0							g.chr22:24659571G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659571G>A								NR_003714.1						0	3096	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.597	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	13	0	0	0	1	0	5	13				
EEF2	1938	broad.mit.edu	37	19	3980680	3980680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3980680G>T	ENST00000309311.6	-	9	1266	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	393					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATAAGAGGGCCTTTGGG	0.527																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1177-1179)cCt>cAt		eukaryotic translation elongation factor 2							77.0	77.0	77.0					19																	3980680		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980680G>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1178C>A	19.37:g.3980680G>T	ENSP00000307940:p.Pro393His						p.P393H	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1266	-		Hepatocellular(1079;0.137)	393					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.1178C>A	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733858	0.89482	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.32515	1.45	5.66	5.66	0.87406	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	H	0.95645	3.7	0.80722	D	1	B	0.18461	0.028	B	0.15870	0.014	T	0.60156	-0.7318	10	0.72032	D	0.01	-29.8098	18.7268	0.91717	0.0:0.0:1.0:0.0	.	393	P13639	EF2_HUMAN	H	393	ENSP00000307940:P393H	ENSP00000307940:P393H	P	-	2	0	EEF2	3931680	1.000000	0.71417	0.894000	0.35097	0.991000	0.79684	9.808000	0.99193	2.674000	0.91012	0.561000	0.74099	CCT		0.527	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		9	20	1	0	6.40141e-05	1	7.11719e-05	9	20				
ERCC3	2071	broad.mit.edu	37	2	128016959	128016959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128016959C>A	ENST00000285398.2	-	14	2224	c.2130G>T	c.(2128-2130)caG>caT	p.Q710H	ERCC3_ENST00000493187.2_Missense_Mutation_p.Q646H	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	710					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTAAGAGCTGCTGTTGCTCTT	0.552			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1936-1938)caG>caT	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							124.0	120.0	122.0					2																	128016959		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128016959C>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.2130G>T	2.37:g.128016959C>A	ENSP00000285398:p.Gln710His					ERCC3_ENST00000285398.2_Missense_Mutation_p.Q710H	p.Q646H			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	14	2401	-	Colorectal(110;0.1)		710			Helicase C-terminal.		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1938G>T	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458584	0.43634	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.63913	-0.07;-0.07	5.53	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	N	0.10972	0.075	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11060	-1.0603	10	0.14656	T	0.56	-24.2551	12.1568	0.54081	0.0:0.8595:0.0:0.1405	.	710	P19447	ERCC3_HUMAN	H	710;646	ENSP00000285398:Q710H;ENSP00000444796:Q646H	ENSP00000285398:Q710H	Q	-	3	2	ERCC3	127733429	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.254000	0.43214	0.702000	0.31825	-0.217000	0.12591	CAG		0.552	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		28	41	1	0	2.4375e-19	1	3.18921e-19	28	41				
ZNF229	7772	broad.mit.edu	37	19	44933440	44933440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933440C>T	ENST00000588931.1	-	6	1949	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	ZNF229_ENST00000291187.4_Missense_Mutation_p.A500T|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTGGTGAGCTTGAAGGTAC	0.512																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1498-1500)Gct>Act		zinc finger protein 229							137.0	143.0	141.0					19																	44933440		2124	4238	6362	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933440C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1516G>A	19.37:g.44933440C>T	ENSP00000466519:p.Ala506Thr					ZNF229_ENST00000588931.1_Missense_Mutation_p.A506T|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	p.A500T	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1820	-		Prostate(69;0.0352)	506					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1498G>A	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806207	0.50421	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.74	-0.164	0.13359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.10874	0.06	0.09310	N	1	P	0.39116	0.66	B	0.26770	0.073	T	0.22487	-1.0215	8	0.13108	T	0.6	.	4.9935	0.14226	0.0:0.4838:0.306:0.2102	.	506	Q9UJW7	ZN229_HUMAN	T	506	.	ENSP00000291187:A506T	A	-	1	0	ZNF229	49625280	0.000000	0.05858	0.000000	0.03702	0.936000	0.57629	-7.215000	0.00041	0.082000	0.17018	0.609000	0.83330	GCT		0.512	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		39	68	0	0	0	1	0	39	68				
FOXP1	27086	broad.mit.edu	37	3	71102876	71102876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71102876G>A	ENST00000318789.4	-	8	856	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q113*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q111*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	111	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCTGCATTTGCTGGGGAGTG	0.507			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(331-333)Caa>Taa		forkhead box P1							125.0	110.0	115.0					3																	71102876		2203	4300	6503	SO:0001587	stop_gained	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71102876G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.331C>T	3.37:g.71102876G>A	ENSP00000318902:p.Gln111*					FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q113*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q111*	p.Q111*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	8	856	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	111			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	ENST00000318789.4	37	c.331C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	40	7.948937	0.98577	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000468577;ENST00000485326;ENST00000497553	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8017	0.96511	0.0:0.0:1.0:0.0	.	.	.	.	X	111;11;11;111;111;113;111;111;111;11;11	.	ENSP00000318902:Q111X	Q	-	1	0	FOXP1	71185566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.743000	0.94032	0.591000	0.81541	CAA		0.507	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		19	36	0	0	0	1	0	19	36				
TBXA2R	6915	broad.mit.edu	37	19	3600109	3600109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3600109G>A	ENST00000375190.4	-	2	917	c.524C>T	c.(523-525)aCc>aTc	p.T175I	TBXA2R_ENST00000411851.3_Missense_Mutation_p.T175I|TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000589966.1_Intron	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	175					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GTATTGCACGGTGTAGCGACC	0.751																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(523-525)aCc>aTc		thromboxane A2 receptor	Ridogrel(DB01207)						18.0	26.0	23.0					19																	3600109		2126	4228	6354	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600109G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.524C>T	19.37:g.3600109G>A	ENSP00000364336:p.Thr175Ile					TBXA2R_ENST00000411851.3_Missense_Mutation_p.T175I|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000587717.1_5'UTR	p.T175I	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	917	-		Hepatocellular(1079;0.137)	175					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.524C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676030	0.67928	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.73363	-0.74;-0.74	4.61	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.305773	0.34628	N	0.003805	T	0.80071	0.4556	M	0.69823	2.125	0.25201	N	0.990051	D	0.58970	0.984	P	0.55303	0.773	T	0.72191	-0.4365	10	0.45353	T	0.12	-36.5861	12.2545	0.54617	0.0:0.3433:0.6567:0.0	.	175	P21731	TA2R_HUMAN	I	175	ENSP00000393333:T175I;ENSP00000364336:T175I	ENSP00000364336:T175I	T	-	2	0	TBXA2R	3551109	0.997000	0.39634	0.799000	0.32177	0.821000	0.46438	2.755000	0.47540	1.017000	0.39495	0.313000	0.20887	ACC		0.751	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			6	13	0	0	0	1	0	6	13				
DHODH	1723	broad.mit.edu	37	16	72046120	72046120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72046120G>A	ENST00000219240.4	+	2	214	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	DHODH_ENST00000572887.1_Missense_Mutation_p.G65R	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	65					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CACCTCCCTGGGGCTCCTTCC	0.562																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(193-195)Ggg>Agg		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)						55.0	62.0	60.0					16																	72046120		2155	4273	6428	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72046120G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.193G>A	16.37:g.72046120G>A	ENSP00000219240:p.Gly65Arg					DHODH_ENST00000219240.4_Missense_Mutation_p.G65R	p.G65R			Q02127	PYRD_HUMAN			2	370	+		Ovarian(137;0.125)	65					A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.193G>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801784	0.50315	.	.	ENSG00000102967	ENST00000219240	D	0.94280	-3.39	4.73	4.73	0.59995	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	M	0.64404	1.975	0.80722	D	1	B	0.18863	0.031	B	0.15052	0.012	D	0.88703	0.3217	10	0.32370	T	0.25	-20.2422	16.8678	0.86033	0.0:0.0:1.0:0.0	.	65	Q02127	PYRD_HUMAN	R	65	ENSP00000219240:G65R	ENSP00000219240:G65R	G	+	1	0	DHODH	70603621	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	8.254000	0.89844	2.450000	0.82876	0.462000	0.41574	GGG		0.562	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		29	38	0	0	0	1	0	29	38				
ARSH	347527	broad.mit.edu	37	X	2924665	2924665	+	Silent	SNP	C	C	T	rs138378007	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2924665C>T	ENST00000381130.2	+	1	12	c.12C>T	c.(10-12)aaC>aaT	p.N4N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	4					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGACAAGAAACGCCAGACCCA	0.468																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(10-12)aaC>aaT		arylsulfatase family, member H		C		2,3833		0,2,1630,571	240.0	174.0	196.0		12	0.5	0.0	X	dbSNP_134	196	0,6728		0,0,2428,1872	no	coding-synonymous	ARSH	NM_001011719.1		0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189		4/563	2924665	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2924665C>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.12C>T	X.37:g.2924665C>T							p.N4N	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			1	12	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	4						Silent	SNP	ENST00000381130.2	37	c.12C>T	CCDS35198.1																																																																																				0.468	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		28	54	0	0	0	1	0	28	54				
DCHS1	8642	broad.mit.edu	37	11	6661869	6661869	+	Missense_Mutation	SNP	G	G	A	rs572329375	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6661869G>A	ENST00000299441.3	-	2	1387	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGGACCCGCCGCTGCTCA	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		17419	0.0		0.0	False		,,,				2504	0.002					ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(976-978)Cgg>Tgg		dachsous cadherin-related 1							95.0	91.0	93.0					11																	6661869		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661869G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.976C>T	11.37:g.6661869G>A	ENSP00000299441:p.Arg326Trp						p.R326W	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1387	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	326			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.976C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.642982	0.67244	.	.	ENSG00000166341	ENST00000299441	T	0.61627	0.09	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.42294	D	0.000735	T	0.70996	0.3288	L	0.59912	1.85	0.44798	D	0.997801	D	0.89917	1.0	D	0.87578	0.998	T	0.73056	-0.4103	10	0.72032	D	0.01	.	11.9298	0.52839	0.0:0.0:0.724:0.276	.	326	Q96JQ0	PCD16_HUMAN	W	326	ENSP00000299441:R326W	ENSP00000299441:R326W	R	-	1	2	DCHS1	6618445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.231000	0.51294	2.512000	0.84698	0.637000	0.83480	CGG		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	52	0	0	0	1	0	5	52				
CACNA1I	8911	broad.mit.edu	37	22	40057154	40057154	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40057154C>A	ENST00000402142.3	+	16	2740	c.2740C>A	c.(2740-2742)Ctg>Atg	p.L914M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.L879M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L914M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.L920M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	914					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAATGGGCACCTGGACCCCAG	0.647																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2758-2760)Ctg>Atg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						34.0	40.0	38.0					22																	40057154		2003	4153	6156	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40057154C>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2740C>A	22.37:g.40057154C>A	ENSP00000385019:p.Leu914Met					CACNA1I_ENST00000402142.3_Missense_Mutation_p.L914M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L879M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L914M	p.L920M			Q9P0X4	CAC1I_HUMAN			19	2758	+	Melanoma(58;0.0749)		914					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.2758C>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135003	0.77662	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97642	-4.44;-4.39;-4.42;-4.37;-4.47;-4.35	5.41	3.33	0.38152	.	0.928876	0.09069	N	0.853192	D	0.98024	0.9349	M	0.73962	2.25	0.37781	D	0.927018	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.998;0.975;0.999;0.997	D	0.94750	0.7926	10	0.49607	T	0.09	.	9.2347	0.37459	0.0:0.7136:0.0:0.2864	.	879;914;879;914	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	914;879;914;879;920;879	ENSP00000385019:L914M;ENSP00000384093:L879M;ENSP00000383887:L914M;ENSP00000385680:L879M;ENSP00000337829:L920M;ENSP00000383028:L879M	ENSP00000337829:L920M	L	+	1	2	CACNA1I	38387100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.040000	0.30278	0.772000	0.33382	0.655000	0.94253	CTG		0.647	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		9	19	1	0	0.000442599	1	0.00048047	9	19				
CA6	765	broad.mit.edu	37	1	9011536	9011536	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9011536C>T	ENST00000377443.2	+	2	263				CA6_ENST00000480186.3_Missense_Mutation_p.A105V|CA6_ENST00000377436.3_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GGAGAAGGGGCGAAGCACAAA	0.527																																						ENST00000319474.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(313-315)gCg>gTg		carbonic anhydrase VI							38.0	35.0	36.0					1																	9011536		876	1991	2867	SO:0001627	intron_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9011536C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.259+2035C>T	1.37:g.9011536C>T						CA6_ENST00000377436.3_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron	p.A105V			P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	3	338	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	103					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.314C>T	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	1.921	-0.448441	0.04572	.	.	ENSG00000131686	ENST00000319474	T	0.27890	1.64	1.18	-2.21	0.06973	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29088	-1.0023	6	0.15499	T	0.54	.	1.5745	0.02621	0.2974:0.219:0.0:0.4836	.	.	.	.	V	105	ENSP00000325786:A105V	ENSP00000325786:A105V	A	+	2	0	CA6	8934123	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.038000	0.13862	-0.644000	0.05465	-0.641000	0.03968	GCG		0.527	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			13	14	0	0	0	1	0	13	14				
MGA	23269	broad.mit.edu	37	15	42058358	42058358	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058358A>C	ENST00000570161.1	+	23	8078	c.8078A>C	c.(8077-8079)aAt>aCt	p.N2693T	MGA_ENST00000566586.1_Missense_Mutation_p.N2484T|MGA_ENST00000545763.1_Missense_Mutation_p.N2484T|MGA_ENST00000219905.7_Missense_Mutation_p.N2693T|MGA_ENST00000389936.4_Missense_Mutation_p.N2654T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATGAAGATAATTCCTTAGAG	0.458																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(8077-8079)aAt>aCt		MGA, MAX dimerization protein							63.0	61.0	61.0					15																	42058358		1896	4118	6014	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058358A>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8078A>C	15.37:g.42058358A>C	ENSP00000457035:p.Asn2693Thr					MGA_ENST00000389936.4_Missense_Mutation_p.N2654T|MGA_ENST00000566586.1_Missense_Mutation_p.N2484T|MGA_ENST00000570161.1_Missense_Mutation_p.N2693T|MGA_ENST00000545763.1_Missense_Mutation_p.N2484T	p.N2693T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8259	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2654					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.8078A>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	7.056	0.565406	0.13560	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83335	-1.71;-1.67;-1.69	5.37	0.219	0.15274	.	1.058050	0.07428	N	0.895181	T	0.64283	0.2584	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.47235	-0.9133	10	0.23891	T	0.37	.	1.5822	0.02637	0.3238:0.3669:0.1731:0.1362	.	2484;2693	F5H7K2;E7ENI0	.;.	T	2693;2654;2484	ENSP00000219905:N2693T;ENSP00000374586:N2654T;ENSP00000442467:N2484T	ENSP00000219905:N2693T	N	+	2	0	MGA	39845650	0.002000	0.14202	0.928000	0.36995	0.226000	0.24999	0.257000	0.18369	0.133000	0.18654	0.528000	0.53228	AAT		0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	47	0	0	0	1	0	6	47				
SLC41A3	54946	broad.mit.edu	37	3	125741743	125741743	+	Nonsense_Mutation	SNP	G	G	A	rs368380383		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125741743G>A	ENST00000315891.6	-	6	869	c.631C>T	c.(631-633)Cga>Tga	p.R211*	SLC41A3_ENST00000360370.4_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000383598.2_Nonsense_Mutation_p.R185*|SLC41A3_ENST00000514023.1_5'Flank|SLC41A3_ENST00000346785.5_Nonsense_Mutation_p.R175*|SLC41A3_ENST00000508835.1_Nonsense_Mutation_p.R94*	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCGAGCTTTCGAGCACCAATC	0.547																																						ENST00000383598.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(553-555)Cga>Tga		solute carrier family 41, member 3		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	178.0	175.0	176.0		631,523,553,280,631	5.0	1.0	3		176	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	SLC41A3	NM_001008485.1,NM_001008486.1,NM_001008487.1,NM_001164475.1,NM_017836.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	211/508,175/472,185/462,94/371,211/488	125741743	1,13005	2203	4300	6503	SO:0001587	stop_gained	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125741743G>A		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.631C>T	3.37:g.125741743G>A	ENSP00000326070:p.Arg211*					SLC41A3_ENST00000346785.5_Nonsense_Mutation_p.R175*|SLC41A3_ENST00000360370.4_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000315891.6_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000508835.1_Nonsense_Mutation_p.R94*	p.R185*	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	5	838	-			211					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Nonsense_Mutation	SNP	ENST00000315891.6	37	c.553C>T	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271826	0.95429	0.0	1.16E-4	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835;ENST00000514677;ENST00000513723	.	.	.	4.99	4.99	0.66335	.	0.095629	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2207	10.7829	0.46388	0.0:0.0:0.8108:0.1892	.	.	.	.	X	211;175;185;202;211;94;226;263	.	ENSP00000326070:R211X	R	-	1	2	SLC41A3	127224433	1.000000	0.71417	0.974000	0.42286	0.822000	0.46500	3.645000	0.54389	2.587000	0.87381	0.591000	0.81541	CGA		0.547	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		53	68	0	0	0	1	0	53	68				
CITED1	4435	broad.mit.edu	37	X	71522666	71522666	+	Silent	SNP	C	C	T	rs141552530		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71522666C>T	ENST00000246139.5	-	2	629	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CITED1_ENST00000445983.1_Silent_p.A18A|CITED1_ENST00000431381.1_Silent_p.A44A|CITED1_ENST00000373619.3_Silent_p.A18A	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	18					apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			skin(1)	1	Renal(35;0.156)					ttacctccttcgcaggTGAGG	0.517													C|||	1	0.000264901	0.0	0.0014	3775	,	,		17246	0.0		0.0	False		,,,				2504	0.0					ENST00000246139.5																			0				skin(1)	1						c.(52-54)gcG>gcA		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1		C	,,,	0,3834		0,0,1632,570	72.0	50.0	58.0		132,54,54,54	0.9	0.2	X	dbSNP_134	58	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CITED1	NM_001144885.1,NM_001144886.1,NM_001144887.1,NM_004143.3	,,,	0,1,4059,2442	TT,TC,CC,C		0.0149,0.0,0.0095	,,,	44/220,18/194,18/194,18/194	71522666	1,10561	2202	4300	6502	SO:0001819	synonymous_variant	4435				apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chrX:71522666C>T	U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.54G>A	X.37:g.71522666C>T						CITED1_ENST00000373619.3_Silent_p.A18A|CITED1_ENST00000431381.1_Silent_p.A44A|CITED1_ENST00000445983.1_Silent_p.A18A	p.A18A	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN			2	629	-	Renal(35;0.156)		18					B5BU50|B5BUI2	Silent	SNP	ENST00000246139.5	37	c.54G>A	CCDS14419.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	6.281	0.419973	0.11928	0.0	1.49E-4	ENSG00000125931	ENST00000429794	.	.	.	4.04	0.867	0.19085	.	.	.	.	.	T	0.45296	0.1335	.	.	.	0.34642	D	0.720722	.	.	.	.	.	.	T	0.49428	-0.8941	4	.	.	.	4.2547	5.6309	0.17510	0.0:0.5318:0.0:0.4682	.	.	.	.	Q	18	.	.	R	-	2	0	CITED1	71439391	0.007000	0.16637	0.231000	0.23993	0.618000	0.37518	-0.470000	0.06639	0.034000	0.15491	0.529000	0.55759	CGA		0.517	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057181.1	NM_004143		5	7	0	0	0	1	0	5	7				
NOS2	4843	broad.mit.edu	37	17	26087105	26087105	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26087105A>G	ENST00000313735.6	-	25	3343	c.3110T>C	c.(3109-3111)gTg>gCg	p.V1037A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1037					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CGCATGCAGCACCCCCTTCTG	0.602											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(3109-3111)gTg>gCg		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						74.0	69.0	71.0					17																	26087105		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26087105A>G	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3110T>C	17.37:g.26087105A>G	ENSP00000327251:p.Val1037Ala		OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	784		p.V1037A	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			25	3343	-			1037					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.3110T>C	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675368	0.47781	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	D	0.86230	-2.09	4.79	3.69	0.42338	Oxidoreductase FAD/NAD(P)-binding (1);	0.076920	0.52532	D	0.000067	D	0.82458	0.5041	L	0.49350	1.555	0.44871	D	0.997882	B	0.15473	0.013	B	0.20955	0.032	T	0.75428	-0.3321	10	0.39692	T	0.17	.	9.8599	0.41107	0.9167:0.0:0.0833:0.0	.	1037	P35228	NOS2_HUMAN	A	1037;998	ENSP00000327251:V1037A	ENSP00000327251:V1037A	V	-	2	0	NOS2	23111232	1.000000	0.71417	0.866000	0.34008	0.821000	0.46438	6.263000	0.72521	0.645000	0.30675	0.379000	0.24179	GTG		0.602	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	59	0	0	0	1	0	5	59				
TNNC1	7134	broad.mit.edu	37	3	52485835	52485835	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52485835A>G	ENST00000232975.3	-	4	296	c.242T>C	c.(241-243)aTg>aCg	p.M81T		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	81	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	GCACCGAACCATCATGACCAG	0.577																																						ENST00000232975.3																			0				endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(241-243)aTg>aCg		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						188.0	143.0	158.0					3																	52485835		2203	4300	6503	SO:0001583	missense	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485835A>G		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.242T>C	3.37:g.52485835A>G	ENSP00000232975:p.Met81Thr						p.M81T	NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	4	296	-			81			EF-hand 2.		O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	37	c.242T>C	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647117	0.87958	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	T;T	0.80566	-1.39;-1.39	5.58	5.58	0.84498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	M	0.92649	3.33	0.80722	D	1	P	0.49961	0.93	D	0.63283	0.913	D	0.93373	0.6737	10	0.87932	D	0	.	15.7426	0.77914	1.0:0.0:0.0:0.0	.	81	P63316	TNNC1_HUMAN	T	81;37	ENSP00000232975:M81T;ENSP00000420596:M37T	ENSP00000232975:M81T	M	-	2	0	TNNC1	52460875	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.129000	0.65627	0.459000	0.35465	ATG		0.577	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			4	52	0	0	0	1	0	4	52				
NUMB	8650	broad.mit.edu	37	14	73750787	73750787	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73750787A>G	ENST00000355058.3	-	10	1228		c.e10+1		NUMB_ENST00000356296.4_Splice_Site|NUMB_ENST00000556772.1_Splice_Site|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000359560.3_Splice_Site|NUMB_ENST00000554546.1_Splice_Site|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Splice_Site|NUMB_ENST00000535282.1_Splice_Site|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000555238.1_Splice_Site			P49757	NUMB_HUMAN	numb homolog (Drosophila)						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGCTACATTACCTGCATTTT	0.448																																						ENST00000556772.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28						c.e4+1		numb homolog (Drosophila)							108.0	95.0	99.0					14																	73750787		2203	4300	6503	SO:0001630	splice_region_variant	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73750787A>G	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.949+1T>C	14.37:g.73750787A>G						NUMB_ENST00000356296.4_Splice_Site|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Splice_Site|NUMB_ENST00000359560.3_Splice_Site|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000557597.1_Splice_Site|NUMB_ENST00000555238.1_Splice_Site|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000554546.1_Splice_Site|NUMB_ENST00000355058.3_Splice_Site				P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	4	2805	-								B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Splice_Site	SNP	ENST00000355058.3	37		CCDS32116.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.131987	0.37630	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000535282	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0741	0.72063	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUMB	72820540	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	8.490000	0.90464	2.160000	0.67779	0.528000	0.53228	.		0.448	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1		Intron	3	54	0	0	0	1	0	3	54				
ITGB1BP2	26548	broad.mit.edu	37	X	70523713	70523713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70523713C>A	ENST00000373829.3	+	8	664	c.591C>A	c.(589-591)ttC>ttA	p.F197L	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.F179L|ITGB1BP2_ENST00000465388.1_3'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	197	CHORD 2. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Cys-rich.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TTGGGGCATTCTTGGCACAAC	0.478																																						ENST00000538820.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14						c.(535-537)ttC>ttA		integrin beta 1 binding protein (melusin) 2							48.0	44.0	46.0					X																	70523713		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70523713C>A	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.591C>A	X.37:g.70523713C>A	ENSP00000362935:p.Phe197Leu					ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.F197L	p.F179L			Q9UKP3	ITBP2_HUMAN			7	877	+	Renal(35;0.156)		197			CHORD 2.|Cys-rich.		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.537C>A	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	c	17.28	3.349349	0.61183	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	5.17	2.41	0.29592	Cysteine/histidine-rich domain (2);	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.92970	3.365	0.51767	D	0.999938	D;D	0.89917	0.979;1.0	D;D	0.87578	0.973;0.998	T	0.79067	-0.1955	9	0.87932	D	0	-7.5169	6.7379	0.23419	0.0:0.6878:0.0:0.3122	.	179;197	Q32N04;Q9UKP3	.;ITBP2_HUMAN	L	197;179	.	ENSP00000362935:F197L	F	+	3	2	ITGB1BP2	70440438	0.997000	0.39634	0.997000	0.53966	0.981000	0.71138	0.738000	0.26158	0.561000	0.29186	0.600000	0.82982	TTC		0.478	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		7	17	1	0	0.00198382	1	0.00210581	7	17				
ANAPC10	10393	broad.mit.edu	37	4	145916607	145916607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145916607T>C	ENST00000507656.1	-	5	569	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.Y159C|ANAPC10_ENST00000309439.5_Missense_Mutation_p.Y159C	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	159	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					TACTGGTGTGTATATTTTAAT	0.358																																						ENST00000507656.1																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(475-477)tAc>tGc		anaphase promoting complex subunit 10							166.0	160.0	162.0					4																	145916607		1816	4083	5899	SO:0001583	missense	10393				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity	g.chr4:145916607T>C	AF132794	CCDS43273.1	4q31	2011-06-15			ENSG00000164162	ENSG00000164162		"""Anaphase promoting complex subunits"""	24077	protein-coding gene	gene with protein product		613745				10318877, 11230166	Standard	NM_001256706		Approved	APC10, DOC1, DKFZP564L0562	uc031shk.1	Q9UM13	OTTHUMG00000161477	ENST00000507656.1:c.476A>G	4.37:g.145916607T>C	ENSP00000423995:p.Tyr159Cys					ANAPC10_ENST00000309439.5_Missense_Mutation_p.Y159C|ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.Y159C	p.Y159C	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN			5	569	-	all_hematologic(180;0.151)		159			DOC.		D3DNZ7|Q2V500|Q9UG51|Q9Y5R0	Missense_Mutation	SNP	ENST00000507656.1	37	c.476A>G	CCDS43273.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861733	0.71949	.	.	ENSG00000164162	ENST00000507656;ENST00000309439;ENST00000451299	T;T;T	0.79352	-1.26;-1.26;-1.26	5.82	5.82	0.92795	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.056119	0.64402	D	0.000001	T	0.77260	0.4104	L	0.59967	1.855	0.80722	D	1	P	0.46512	0.879	P	0.45998	0.5	T	0.79200	-0.1901	10	0.56958	D	0.05	-11.6439	11.2849	0.49216	0.1361:0.0:0.0:0.8639	.	159	Q9UM13	APC10_HUMAN	C	159	ENSP00000423995:Y159C;ENSP00000310071:Y159C;ENSP00000403891:Y159C	ENSP00000310071:Y159C	Y	-	2	0	ANAPC10	146136057	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.006000	0.70724	2.229000	0.72834	0.397000	0.26171	TAC		0.358	ANAPC10-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365090.1	NM_014885		41	84	0	0	0	1	0	41	84				
NPTX1	4884	broad.mit.edu	37	17	78445556	78445556	+	Silent	SNP	G	G	A	rs377227227		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78445556G>A	ENST00000306773.4	-	4	1210	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	351	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCACCAGCACGCCCTGGGGCT	0.657																																						ENST00000306773.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(1051-1053)ggC>ggT		neuronal pentraxin I							50.0	41.0	44.0					17																	78445556		2203	4299	6502	SO:0001819	synonymous_variant	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78445556G>A	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1053C>T	17.37:g.78445556G>A							p.G351G	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		4	1210	-	all_neural(118;0.0538)		351			Pentaxin.		B3KXH3|Q5FWE6	Silent	SNP	ENST00000306773.4	37	c.1053C>T	CCDS32762.1																																																																																				0.657	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			5	14	0	0	0	1	0	5	14				
C11orf30	56946	broad.mit.edu	37	11	76183810	76183810	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76183810C>A	ENST00000529032.1	+	7	1034	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	C11orf30_ENST00000525038.1_Missense_Mutation_p.P360H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P345H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P345H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P346H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P346H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P359H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P360H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	345	Interaction with BRCA2.|Ser-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ACACCATCACCTATTCCTAAT	0.453																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1033-1035)cCt>cAt		chromosome 11 open reading frame 30							157.0	128.0	138.0					11																	76183810		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76183810C>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1034C>A	11.37:g.76183810C>A	ENSP00000432327:p.Pro345His					C11orf30_ENST00000525919.1_Missense_Mutation_p.P346H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P359H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P360H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P345H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P346H|C11orf30_ENST00000525038.1_Missense_Mutation_p.P360H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P345H	p.P345H			Q7Z589	EMSY_HUMAN			7	1034	+			345			Interaction with BRCA2.|Ser-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1034C>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176425	0.57692	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.17	6.17	0.99709	.	0.290468	0.38548	N	0.001647	T	0.48314	0.1493	N	0.19112	0.55	0.40711	D	0.982575	B;B;B;P;D;P;B;P	0.63880	0.214;0.214;0.214;0.755;0.993;0.641;0.214;0.641	B;B;B;B;P;B;B;B	0.53360	0.241;0.241;0.241;0.416;0.724;0.188;0.241;0.188	T	0.51395	-0.8711	9	0.62326	D	0.03	-2.6366	10.6191	0.45470	0.0:0.7865:0.143:0.0705	.	359;360;360;345;295;346;346;345	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	H	346;345;345;295;360;359;346;360;345	.	ENSP00000334130:P345H	P	+	2	0	C11orf30	75861458	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.978000	0.49305	2.941000	0.99782	0.655000	0.94253	CCT		0.453	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		5	60	1	0	3.59834e-05	1	4.01776e-05	5	60				
FBL	2091	broad.mit.edu	37	19	40329705	40329705	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40329705C>T	ENST00000221801.3	-	5	632	c.519G>A	c.(517-519)acG>acA	p.T173T	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	173	S-adenosyl-L-methionine binding. {ECO:0000250}.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGGGAGACCGTGGTGCCCG	0.587																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(517-519)acG>acA		fibrillarin							120.0	111.0	114.0					19																	40329705		2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40329705C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.519G>A	19.37:g.40329705C>T							p.T173T	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	5	632	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	173			S-adenosyl-L-methionine binding (By similarity).		B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.519G>A	CCDS12545.1																																																																																				0.587	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		27	48	0	0	0	1	0	27	48				
ITGA2	3673	broad.mit.edu	37	5	52376351	52376351	+	Missense_Mutation	SNP	G	G	T	rs35513357|rs557866520		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376351G>T	ENST00000296585.5	+	25	3082	c.2939G>T	c.(2938-2940)gGa>gTa	p.G980V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	980					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTAACAACAGGAAGTGTTCCA	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19821	0.0		0.0	False		,,,				2504	0.0					ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2938-2940)gGa>gTa		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							159.0	148.0	151.0					5																	52376351		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52376351G>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2939G>T	5.37:g.52376351G>T	ENSP00000296585:p.Gly980Val						p.G980V	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			25	3082	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	980					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.2939G>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459499	0.63401	.	.	ENSG00000164171	ENST00000296585	D	0.87179	-2.22	5.2	5.2	0.72013	Integrin alpha-2 (1);	0.155185	0.56097	D	0.000027	D	0.91277	0.7250	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91628	0.5316	10	0.72032	D	0.01	.	18.8991	0.92435	0.0:0.0:1.0:0.0	.	980	P17301	ITA2_HUMAN	V	980	ENSP00000296585:G980V	ENSP00000296585:G980V	G	+	2	0	ITGA2	52412108	1.000000	0.71417	0.984000	0.44739	0.366000	0.29705	5.330000	0.65899	2.861000	0.98227	0.655000	0.94253	GGA		0.438	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		21	40	1	0	2.4624e-09	1	2.98951e-09	21	40				
BRMS1L	84312	broad.mit.edu	37	14	36295758	36295758	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36295758C>A	ENST00000216807.7	+	1	235	c.36C>A	c.(34-36)acC>acA	p.T12T	BRMS1L_ENST00000543183.1_5'UTR|RP11-317N8.5_ENST00000555918.1_RNA	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	12					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGAAGGAGACCAACCATCACG	0.607																																						ENST00000216807.7																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(34-36)acC>acA		breast cancer metastasis-suppressor 1-like							82.0	55.0	64.0					14																	36295758		2203	4300	6503	SO:0001819	synonymous_variant	84312				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr14:36295758C>A	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.36C>A	14.37:g.36295758C>A						BRMS1L_ENST00000543183.1_5'UTR|RP11-317N8.5_ENST00000555918.1_RNA	p.T12T	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)	1	235	+	Breast(36;0.137)|Hepatocellular(127;0.158)		12					A6NFW5|A6NH45|B2RD65|Q9BRI4	Silent	SNP	ENST00000216807.7	37	c.36C>A	CCDS32066.1																																																																																				0.607	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		3	4	1	0	0.115264	1	0.117355	3	4				
C19orf57	79173	broad.mit.edu	37	19	14000930	14000930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14000930G>A	ENST00000586783.1	-	5	738	c.739C>T	c.(739-741)Cca>Tca	p.P247S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P247S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.P247S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	247					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCTGTCTGGCTTCTCCCCT	0.632																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(739-741)Cca>Tca		chromosome 19 open reading frame 57							89.0	82.0	84.0					19																	14000930		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000930G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.739C>T	19.37:g.14000930G>A	ENSP00000465822:p.Pro247Ser					C19orf57_ENST00000346736.2_Missense_Mutation_p.P247S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.P247S	p.P247S			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	797	-			247					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.739C>T		.	.	.	.	.	.	.	.	.	.	G	10.94	1.493069	0.26774	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.30448	1.53;1.53	3.14	-2.57	0.06248	.	0.530190	0.14228	N	0.332909	T	0.13628	0.0330	N	0.12746	0.255	0.09310	N	1	P;B	0.50943	0.94;0.395	P;B	0.46275	0.51;0.1	T	0.13072	-1.0523	10	0.30078	T	0.28	0.0417	0.4497	0.00499	0.2668:0.2062:0.3348:0.1922	.	247;247	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	S	247	ENSP00000404382:P247S;ENSP00000254336:P247S	ENSP00000254336:P247S	P	-	1	0	C19orf57	13861930	0.192000	0.23301	0.001000	0.08648	0.023000	0.10783	0.656000	0.24948	-0.128000	0.11641	0.491000	0.48974	CCA		0.632	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		32	51	0	0	0	1	0	32	51				
GKN2	200504	broad.mit.edu	37	2	69177295	69177295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69177295C>T	ENST00000328895.4	-	3	275	c.167G>A	c.(166-168)gGa>gAa	p.G56E	GKN2_ENST00000481498.1_Missense_Mutation_p.G56E	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	56	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGAGCATGATCCTGCATGGAT	0.368																																						ENST00000481498.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(166-168)gGa>gAa		gastrokine 2							147.0	135.0	139.0					2																	69177295		2203	4300	6503	SO:0001583	missense	200504					extracellular region		g.chr2:69177295C>T	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.167G>A	2.37:g.69177295C>T	ENSP00000329292:p.Gly56Glu					GKN2_ENST00000328895.4_Missense_Mutation_p.G56E	p.G56E			Q86XP6	GKN2_HUMAN			3	185	-			56			BRICHOS.		Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	c.167G>A	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692219	0.68271	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.80653	-1.4;-1.4	5.07	5.07	0.68467	BRICHOS (2);	0.000000	0.64402	D	0.000001	D	0.88713	0.6511	M	0.73962	2.25	0.42538	D	0.993064	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.89797	0.3972	10	0.87932	D	0	-12.3447	13.8346	0.63402	0.0:1.0:0.0:0.0	.	56;56	E5RHQ8;Q86XP6	.;GKN2_HUMAN	E	56	ENSP00000329292:G56E;ENSP00000428538:G56E	ENSP00000329292:G56E	G	-	2	0	GKN2	69030799	0.858000	0.29795	0.457000	0.27056	0.871000	0.50021	3.763000	0.55257	2.627000	0.88993	0.655000	0.94253	GGA		0.368	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		36	45	0	0	0	1	0	36	45				
SIMC1	375484	broad.mit.edu	37	5	175763812	175763812	+	Missense_Mutation	SNP	G	G	A	rs374328101		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175763812G>A	ENST00000443967.1	+	10	2611	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	SIMC1_ENST00000430704.2_Missense_Mutation_p.R320H|SIMC1_ENST00000341199.6_Missense_Mutation_p.R320H|SIMC1_ENST00000332772.4_Missense_Mutation_p.R196H			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	735							SUMO polymer binding (GO:0032184)										ACACCCACCCGCCTGCCTCTG	0.483																																						ENST00000443967.1																			0											c.(2203-2205)cGc>cAc		SUMO-interacting motifs containing 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	85.0	83.0		959	4.0	1.0	5		83	2,8598	2.2+/-6.3	0,2,4298	no	missense	C5orf25	NM_198567.4	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	320/458	175763812	3,13003	2203	4300	6503	SO:0001583	missense	375484							g.chr5:175763812G>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2204G>A	5.37:g.175763812G>A	ENSP00000406571:p.Arg735His					SIMC1_ENST00000341199.6_Missense_Mutation_p.R320H|SIMC1_ENST00000430704.2_Missense_Mutation_p.R320H|SIMC1_ENST00000332772.4_Missense_Mutation_p.R196H	p.R735H							10	2611	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2204G>A		.	.	.	.	.	.	.	.	.	.	G	18.59	3.656920	0.67586	2.27E-4	2.33E-4	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.31769	1.91;1.91;2.19;1.48	4.86	3.95	0.45737	.	0.390902	0.25324	N	0.031493	T	0.37404	0.1002	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.998;0.995;0.999	P;P;P	0.60117	0.78;0.784;0.869	T	0.10382	-1.0632	10	0.54805	T	0.06	-16.9084	6.1479	0.20296	0.1028:0.2062:0.691:0.0	.	196;320;735	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	H	320;320;735;196	ENSP00000342075:R320H;ENSP00000409287:R320H;ENSP00000406571:R735H;ENSP00000331311:R196H	ENSP00000331311:R196H	R	+	2	0	C5orf25	175696418	0.979000	0.34478	1.000000	0.80357	0.967000	0.64934	1.616000	0.36933	2.529000	0.85273	0.467000	0.42956	CGC		0.483	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		34	40	0	0	0	1	0	34	40				
SOX5	6660	broad.mit.edu	37	12	23908572	23908572	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23908572C>A	ENST00000451604.2	-	4	669	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SOX5_ENST00000537393.1_Splice_Site_p.G155W|SOX5_ENST00000545921.1_Splice_Site_p.G180W|SOX5_ENST00000541536.1_Splice_Site_p.G177W|SOX5_ENST00000381381.2_Splice_Site_p.G177W|SOX5_ENST00000309359.1_Splice_Site_p.G177W|SOX5_ENST00000541847.1_Splice_Site_p.G180W|SOX5_ENST00000546136.1_Splice_Site_p.G177W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	190					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCATATTACCTTTTATTTCG	0.363																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.e3+1		SRY (sex determining region Y)-box 5							120.0	115.0	116.0					12																	23908572		2203	4299	6502	SO:0001630	splice_region_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23908572C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.568+1G>T	12.37:g.23908572C>A						SOX5_ENST00000541847.1_Splice_Site_p.G180_splice|SOX5_ENST00000541536.1_Splice_Site_p.G177_splice|SOX5_ENST00000545921.1_Splice_Site_p.G180_splice|SOX5_ENST00000451604.2_Splice_Site_p.G190_splice|SOX5_ENST00000537393.1_Splice_Site_p.G155_splice|SOX5_ENST00000309359.1_Splice_Site_p.G177_splice|SOX5_ENST00000381381.2_Splice_Site_p.G177_splice	p.G177_splice			P35711	SOX5_HUMAN			3	531	-			190					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Splice_Site	SNP	ENST00000451604.2	37	c.529_splice	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324193	0.81580	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847	D;D;D;D;D;D;D	0.99818	-6.82;-6.82;-5.63;-6.82;-6.92;-5.63;-6.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;1.0	D	0.97448	1.0026	9	.	.	.	.	18.3073	0.90187	0.0:1.0:0.0:0.0	.	155;177;190	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	W	177;177;177;190;142;155;177;180;180	ENSP00000437487:G177W;ENSP00000308927:G177W;ENSP00000370788:G177W;ENSP00000398273:G190W;ENSP00000439832:G155W;ENSP00000441973:G177W;ENSP00000443520:G180W	.	G	-	1	0	SOX5	23799839	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.878000	0.75567	2.834000	0.97654	0.650000	0.86243	GGG		0.363	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	Missense_Mutation	9	55	1	0	0.00448238	1	0.00472561	9	55				
ZNF304	57343	broad.mit.edu	37	19	57869057	57869057	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57869057G>T	ENST00000282286.5	+	3	1993	c.1820G>T	c.(1819-1821)aGg>aTg	p.R607M	ZNF304_ENST00000598744.1_Missense_Mutation_p.R565M|ZNF304_ENST00000443917.2_Missense_Mutation_p.R654M|ZNF304_ENST00000391705.3_Missense_Mutation_p.R607M			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTGCACCAGAGGGTTCACACT	0.478																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(1819-1821)aGg>aTg		zinc finger protein 304							84.0	81.0	82.0					19																	57869057		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57869057G>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1820G>T	19.37:g.57869057G>T	ENSP00000282286:p.Arg607Met					ZNF304_ENST00000282286.5_Missense_Mutation_p.R607M|ZNF304_ENST00000443917.2_Missense_Mutation_p.R654M|ZNF304_ENST00000598744.1_Missense_Mutation_p.R565M	p.R607M	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	2104	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	607						Missense_Mutation	SNP	ENST00000282286.5	37	c.1820G>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549103	0.65311	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.25579	1.79;1.79;1.79	3.89	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52092	0.1713	M	0.87547	2.89	0.26835	N	0.968509	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.38351	-0.9665	9	0.72032	D	0.01	.	9.2462	0.37527	0.1894:0.0:0.8106:0.0	.	607;654	Q9HCX3;E7EQD3	ZN304_HUMAN;.	M	607;607;654	ENSP00000282286:R607M;ENSP00000375586:R607M;ENSP00000401642:R654M	ENSP00000282286:R607M	R	+	2	0	ZNF304	62560869	0.892000	0.30473	0.763000	0.31416	0.981000	0.71138	5.266000	0.65525	0.600000	0.29862	0.650000	0.86243	AGG		0.478	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			5	53	1	0	0.184627	1	0.186383	5	53				
RP11-467N20.5	0	broad.mit.edu	37	15	23412173	23412173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23412173G>T	ENST00000558241.1	-	2	374	c.284C>A	c.(283-285)tCt>tAt	p.S95Y																	endometrium(1)	1						GCAACCACCAGAAGTGGTTGT	0.532																																						ENST00000558241.1																			0				endometrium(1)	1						c.(283-285)tCt>tAt																																						SO:0001583	missense	0							g.chr15:23412173G>T																												ENST00000558241.1:c.284C>A	15.37:g.23412173G>T	ENSP00000453436:p.Ser95Tyr						p.S95Y							2	374	-									Missense_Mutation	SNP	ENST00000558241.1	37	c.284C>A																																																																																					0.532	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000415942.1			21	30	1	0	1.10923e-09	1	1.35296e-09	21	30				
CYP1B1	1545	broad.mit.edu	37	2	38301921	38301921	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38301921A>G	ENST00000260630.3	-	2	1012	c.611T>C	c.(610-612)gTc>gCc	p.V204A	CYP1B1_ENST00000407341.1_Missense_Mutation_p.V204A|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	204					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GGCACTCATGACGTTGGCCAC	0.711																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(610-612)gTc>gCc		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						7.0	9.0	9.0					2																	38301921		2117	4198	6315	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301921A>G	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.611T>C	2.37:g.38301921A>G	ENSP00000260630:p.Val204Ala					CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.V204A	p.V204A	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			2	1012	-		all_hematologic(82;0.21)	204					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.611T>C	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455160	0.84209	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	D;D	0.81659	-1.52;-1.52	4.41	4.41	0.53225	.	0.227288	0.36409	N	0.002605	D	0.90369	0.6986	M	0.90019	3.08	0.38262	D	0.941919	D	0.76494	0.999	D	0.77557	0.99	D	0.92900	0.6338	10	0.87932	D	0	.	11.6705	0.51399	1.0:0.0:0.0:0.0	.	204	Q53TK1	.	A	204	ENSP00000260630:V204A;ENSP00000384972:V204A	ENSP00000260630:V204A	V	-	2	0	CYP1B1	38155425	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.093000	0.76937	1.864000	0.54056	0.477000	0.44152	GTC		0.711	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		2	4	0	0	0	1	0	2	4				
IDH3G	3421	broad.mit.edu	37	X	153055715	153055715	+	Silent	SNP	C	C	T	rs373479731		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153055715C>T	ENST00000217901.5	-	4	364	c.168G>A	c.(166-168)acG>acA	p.T56T	IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000370092.3_Silent_p.T56T|IDH3G_ENST00000370093.1_Silent_p.T56T|IDH3G_ENST00000497043.1_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	56					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATGGTCACCGTGTGCCGCC	0.657																																						ENST00000370092.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(166-168)acG>acA		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)	C	,	0,3834		0,0,0,1632,570	66.0	51.0	56.0		168,168	-4.9	1.0	X		56	2,6726		0,1,1,2427,1871	no	coding-synonymous,coding-synonymous	IDH3G	NM_004135.2,NM_174869.1	,	0,1,1,4059,2441	TT,TC,T,CC,C		0.0297,0.0,0.0189	,	56/394,56/381	153055715	2,10560	2202	4300	6502	SO:0001819	synonymous_variant	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153055715C>T		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.168G>A	X.37:g.153055715C>T						IDH3G_ENST00000370093.1_Silent_p.T56T|IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Silent_p.T56T	p.T56T	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			4	353	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		56					E9PDD5|Q9BUU5	Silent	SNP	ENST00000217901.5	37	c.168G>A	CCDS14730.1																																																																																				0.657	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			7	22	0	0	0	1	0	7	22				
PDZD9	255762	broad.mit.edu	37	16	22000097	22000097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22000097C>T	ENST00000424898.2	-	3	289	c.227G>A	c.(226-228)aGt>aAt	p.S76N	PDZD9_ENST00000286143.6_Missense_Mutation_p.S14N|PDZD9_ENST00000537222.2_Missense_Mutation_p.S16N			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	76	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.									breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						ATGGCCAACACTAATCAGAAC	0.353																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(40-42)aGt>aAt		PDZ domain containing 9							62.0	59.0	60.0					16																	22000097		2198	4300	6498	SO:0001583	missense	255762							g.chr16:22000097C>T	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.227G>A	16.37:g.22000097C>T	ENSP00000400514:p.Ser76Asn					PDZD9_ENST00000537222.2_Missense_Mutation_p.S16N|PDZD9_ENST00000424898.2_Missense_Mutation_p.S76N	p.S14N			Q8IXQ8	PDZD9_HUMAN			4	362	-			76					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.41G>A		.	.	.	.	.	.	.	.	.	.	C	13.52	2.261591	0.39995	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143;ENST00000521513	T;T;T	0.47528	1.47;0.84;0.84	5.11	-0.796	0.10912	.	0.541548	0.17598	N	0.168507	T	0.48892	0.1525	M	0.80847	2.515	0.24286	N	0.995185	P	0.51351	0.944	P	0.46758	0.526	T	0.43956	-0.9359	10	0.49607	T	0.09	-7.1183	6.4532	0.21916	0.0:0.3376:0.4795:0.1829	.	14	Q8IXQ8-2	.	N	76;16;14;16	ENSP00000400514:S76N;ENSP00000441685:S16N;ENSP00000286143:S14N	ENSP00000286143:S14N	S	-	2	0	PDZD9	21907598	0.976000	0.34144	0.995000	0.50966	0.780000	0.44128	0.363000	0.20301	0.186000	0.20125	-1.095000	0.02154	AGT		0.353	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		6	24	0	0	0	1	0	6	24				
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167168078A>G	ENST00000409435.1	-	1	188	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATGTCCCCATAGATGAAGG	0.473																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(187-189)taT>taC		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						91.0	99.0	97.0					2																	167168078		2108	4270	6378	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168078A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.189T>C	2.37:g.167168078A>G						SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000409435.1_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y	p.Y63Y			Q15858	SCN9A_HUMAN			2	529	-			63					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.189T>C	CCDS46441.1																																																																																				0.473	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		28	60	0	0	0	1	0	28	60				
UBXN10	127733	broad.mit.edu	37	1	20517755	20517755	+	Missense_Mutation	SNP	C	C	T	rs201689522	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20517755C>T	ENST00000375099.3	+	2	785	c.701C>T	c.(700-702)aCc>aTc	p.T234I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	234	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AAAAACAAAACCTCCTACCGA	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		21199	0.003		0.0	False		,,,				2504	0.0					ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(700-702)aCc>aTc		UBX domain protein 10							80.0	79.0	79.0					1																	20517755		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517755C>T	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.701C>T	1.37:g.20517755C>T	ENSP00000364240:p.Thr234Ile						p.T234I	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	785	+			234			UBX.		Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.701C>T	CCDS205.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	11.87	1.767829	0.31320	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.78	5.78	0.91487	UBX (3);	0.631054	0.14516	N	0.314771	T	0.22282	0.0537	N	0.25647	0.755	0.09310	N	1	P	0.46327	0.876	P	0.44860	0.462	T	0.08126	-1.0737	9	0.20519	T	0.43	-7.5409	11.9587	0.52997	0.0:0.9204:0.0:0.0796	.	234	Q96LJ8	UBX10_HUMAN	I	234	.	ENSP00000364240:T234I	T	+	2	0	UBXN10	20390342	0.129000	0.22400	0.136000	0.22124	0.767000	0.43475	3.867000	0.56047	2.731000	0.93534	0.591000	0.81541	ACC		0.488	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		22	36	0	0	0	1	0	22	36				
PROM2	150696	broad.mit.edu	37	2	95947042	95947042	+	Missense_Mutation	SNP	G	G	A	rs142421342		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95947042G>A	ENST00000317620.9	+	12	1613	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	PROM2_ENST00000403131.2_Missense_Mutation_p.A494T|PROM2_ENST00000542147.1_Missense_Mutation_p.A494T|PROM2_ENST00000317668.4_Missense_Mutation_p.A494T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	494					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGTGTTCGCCACCTTCCT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		15606	0.0		0.001	False		,,,				2504	0.0					ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1480-1482)Gcc>Acc		prominin 2							89.0	83.0	85.0					2																	95947042		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947042G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1480G>A	2.37:g.95947042G>A	ENSP00000318270:p.Ala494Thr					PROM2_ENST00000317668.4_Missense_Mutation_p.A494T|PROM2_ENST00000403131.2_Missense_Mutation_p.A494T|PROM2_ENST00000542147.1_Missense_Mutation_p.A494T	p.A494T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			12	1613	+			494					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1480G>A	CCDS2012.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.845	0.157090	0.09236	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.07	2.17	0.27698	.	0.622471	0.15721	N	0.247899	T	0.38321	0.1036	L	0.55103	1.725	0.24823	N	0.992579	B	0.14805	0.011	B	0.14578	0.011	T	0.27502	-1.0072	10	0.33940	T	0.23	-7.7366	6.0364	0.19710	0.0901:0.0:0.5435:0.3664	.	494	Q8N271	PROM2_HUMAN	T	494	ENSP00000385716:A494T;ENSP00000318520:A494T;ENSP00000318270:A494T;ENSP00000442542:A494T	ENSP00000318270:A494T	A	+	1	0	PROM2	95310769	0.408000	0.25360	0.259000	0.24435	0.092000	0.18411	0.657000	0.24963	0.120000	0.18254	-0.291000	0.09656	GCC		0.642	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		34	57	0	0	0	1	0	34	57				
ANO5	203859	broad.mit.edu	37	11	22249017	22249017	+	Missense_Mutation	SNP	G	G	A	rs146725859		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22249017G>A	ENST00000324559.8	+	7	850	c.533G>A	c.(532-534)aGt>aAt	p.S178N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	178					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.S178I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCCACTGAGTGTGAAGTAT	0.463																																						ENST00000324559.8																			1	Substitution - Missense(1)	p.S178I(1)	lung(1)	breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(532-534)aGt>aAt		anoctamin 5							141.0	134.0	136.0					11																	22249017		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22249017G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.533G>A	11.37:g.22249017G>A	ENSP00000315371:p.Ser178Asn						p.S178N	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			7	850	+			178						Missense_Mutation	SNP	ENST00000324559.8	37	c.533G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	2.911	-0.225301	0.06022	.	.	ENSG00000171714	ENST00000324559	T	0.68479	-0.33	5.75	-6.62	0.01813	.	1.209340	0.05281	N	0.519407	T	0.35335	0.0928	N	0.05330	-0.07	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15809	-1.0424	10	0.14656	T	0.56	.	2.5659	0.04783	0.3222:0.2823:0.2974:0.0981	.	178	Q75V66	ANO5_HUMAN	N	178	ENSP00000315371:S178N	ENSP00000315371:S178N	S	+	2	0	ANO5	22205593	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.714000	0.25808	-1.438000	0.01965	-0.300000	0.09419	AGT		0.463	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		51	60	0	0	0	1	0	51	60				
MAP3K9	4293	broad.mit.edu	37	14	71206852	71206852	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71206852A>T	ENST00000554752.2	-	7	1596	c.1597T>A	c.(1597-1599)Tcc>Acc	p.S533T	MAP3K9_ENST00000381250.4_Missense_Mutation_p.S533T|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S270T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S533T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S227T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	533				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). {ECO:0000305}.	activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGGTAGGGGAGGCCTGCACC	0.468																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1597-1599)Tcc>Acc		mitogen-activated protein kinase kinase kinase 9							145.0	132.0	137.0					14																	71206852		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71206852A>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1597T>A	14.37:g.71206852A>T	ENSP00000451612:p.Ser533Thr					MAP3K9_ENST00000554146.1_Missense_Mutation_p.S270T|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S533T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S533T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S227T	p.S533T			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	7	1596	-			533	KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).				A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1597T>A		.	.	.	.	.	.	.	.	.	.	A	29.2	4.984635	0.93044	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	6.17	6.17	0.99709	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	L	0.40543	1.245	0.58432	D	0.999999	P;P;P;P	0.45240	0.854;0.772;0.678;0.678	P;P;P;P	0.58077	0.832;0.573;0.646;0.646	T	0.00228	-1.1899	10	0.48119	T	0.1	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	270;533;533;227	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	T	533;533;227;533;270;261	ENSP00000451612:S533T;ENSP00000451038:S227T;ENSP00000370649:S533T;ENSP00000451921:S270T	ENSP00000005198:S533T	S	-	1	0	MAP3K9	70276605	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TCC		0.468	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			6	54	0	0	0	1	0	6	54				
DISP2	85455	broad.mit.edu	37	15	40657910	40657910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40657910G>A	ENST00000267889.3	+	7	1016	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	310					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCATGTGTCGCATGGAACAG	0.562																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(928-930)cGc>cAc		dispatched homolog 2 (Drosophila)							138.0	129.0	132.0					15																	40657910		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40657910G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.929G>A	15.37:g.40657910G>A	ENSP00000267889:p.Arg310His						p.R310H	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	7	1016	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	310					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.929G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653800	0.29425	.	.	ENSG00000140323	ENST00000267889	T	0.12569	2.67	4.91	4.0	0.46444	.	0.400270	0.28393	N	0.015503	T	0.10508	0.0257	L	0.33485	1.01	0.39935	D	0.974346	B	0.16396	0.017	B	0.10450	0.005	T	0.08932	-1.0698	10	0.49607	T	0.09	-24.1727	8.1047	0.30879	0.229:0.0:0.771:0.0	.	310	A7MBM2	DISP2_HUMAN	H	310	ENSP00000267889:R310H	ENSP00000267889:R310H	R	+	2	0	DISP2	38445202	0.998000	0.40836	0.999000	0.59377	0.987000	0.75469	2.719000	0.47244	1.309000	0.44985	0.591000	0.81541	CGC		0.562	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		6	118	0	0	0	1	0	6	118				
LRWD1	222229	broad.mit.edu	37	7	102106493	102106493	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102106493C>A	ENST00000292616.5	+	2	462	c.310C>A	c.(310-312)Ctg>Atg	p.L104M	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	104					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACCCCTTCCTGACGGTAAG	0.617																																						ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(310-312)Ctg>Atg		leucine-rich repeats and WD repeat domain containing 1							49.0	47.0	48.0					7																	102106493		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106493C>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.310C>A	7.37:g.102106493C>A	ENSP00000292616:p.Leu104Met						p.L104M	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			2	462	+			104					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.310C>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559165	0.65538	.	.	ENSG00000161036	ENST00000292616	T	0.18810	2.19	5.19	4.31	0.51392	.	0.065172	0.64402	D	0.000011	T	0.40839	0.1133	M	0.65498	2.005	0.44366	D	0.997262	D	0.89917	1.0	D	0.87578	0.998	T	0.22417	-1.0217	10	0.62326	D	0.03	-21.7656	8.4453	0.32838	0.0:0.757:0.0:0.243	.	104	Q9UFC0	LRWD1_HUMAN	M	104	ENSP00000292616:L104M	ENSP00000292616:L104M	L	+	1	2	LRWD1	101893498	0.999000	0.42202	0.996000	0.52242	0.821000	0.46438	1.462000	0.35266	1.196000	0.43129	0.561000	0.74099	CTG		0.617	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		4	45	1	0	0.150653	1	0.152692	4	45				
RIMS2	9699	broad.mit.edu	37	8	104955039	104955039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104955039G>A	ENST00000436393.2	+	12	2161	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E	RIMS2_ENST00000507740.1_Silent_p.E654E|RIMS2_ENST00000262231.10_Silent_p.E701E|RIMS2_ENST00000406091.3_Silent_p.E862E			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	924					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGATGATGAGCCACATTGGT	0.378										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1960-1962)gaG>gaA		regulating synaptic membrane exocytosis 2							73.0	69.0	70.0					8																	104955039		1885	4111	5996	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955039G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1920G>A	8.37:g.104955039G>A		HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Silent_p.E862E|RIMS2_ENST00000436393.2_Silent_p.E640E|RIMS2_ENST00000262231.10_Silent_p.E701E	p.E654E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		11	2198	+			924					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.1962G>A																																																																																					0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		16	29	0	0	0	1	0	16	29				
FAM83E	54854	broad.mit.edu	37	19	49104456	49104456	+	Silent	SNP	G	G	A	rs374545212		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49104456G>A	ENST00000263266.3	-	5	1536	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	449										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CATCCCCACCGAACCGCCTTC	0.706																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(1345-1347)ttC>ttT		family with sequence similarity 83, member E							20.0	22.0	21.0					19																	49104456		1856	4086	5942	SO:0001819	synonymous_variant	54854							g.chr19:49104456G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1347C>T	19.37:g.49104456G>A							p.F449F	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	1536	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	449					Q9NXK1	Silent	SNP	ENST00000263266.3	37	c.1347C>T	CCDS42587.1																																																																																				0.706	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		7	10	0	0	0	1	0	7	10				
ACVRL1	94	broad.mit.edu	37	12	52307480	52307480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52307480C>T	ENST00000388922.4	+	4	734	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R165C|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	151					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGAAGCAGCGTGGCCTGCA	0.667																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(493-495)Cgt>Tgt		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						37.0	32.0	33.0					12																	52307480		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52307480C>T	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.451C>T	12.37:g.52307480C>T	ENSP00000373574:p.Arg151Cys					ACVRL1_ENST00000388922.4_Missense_Mutation_p.R151C|ACVRL1_ENST00000419526.2_Intron	p.R165C	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	3	594	+			151					A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.493C>T	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052178	0.55218	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683	D;D	0.87103	-2.18;-2.21	5.63	3.6	0.41247	.	0.000000	0.38217	N	0.001772	T	0.80325	0.4602	N	0.19112	0.55	0.09310	N	0.999997	D	0.53151	0.958	P	0.44860	0.462	T	0.74414	-0.3673	10	0.56958	D	0.05	.	13.7821	0.63089	0.2889:0.7111:0.0:0.0	.	151	P37023	ACVL1_HUMAN	C	151;151;165	ENSP00000373574:R151C;ENSP00000447884:R165C	ENSP00000267008:R151C	R	+	1	0	ACVRL1	50593747	0.349000	0.24870	0.840000	0.33206	0.747000	0.42532	1.326000	0.33735	1.349000	0.45751	0.655000	0.94253	CGT		0.667	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			11	12	0	0	0	1	0	11	12				
SLC45A1	50651	broad.mit.edu	37	1	8386014	8386014	+	Silent	SNP	G	G	A	rs375786666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8386014G>A	ENST00000471889.1	+	4	1012	c.627G>A	c.(625-627)tcG>tcA	p.S209S	SLC45A1_ENST00000289877.8_Silent_p.S209S|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.S243S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	209					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S209S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGACTCGGCGGACAACC	0.657																																						ENST00000471889.1																			1	Substitution - coding silent(1)	p.S209S(1)	large_intestine(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(625-627)tcG>tcA		solute carrier family 45, member 1							95.0	87.0	90.0					1																	8386014		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8386014G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.627G>A	1.37:g.8386014G>A						SLC45A1_ENST00000289877.8_Silent_p.S209S|SLC45A1_ENST00000377479.2_Silent_p.S243S	p.S209S			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1012	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	209					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.627G>A	CCDS30577.1																																																																																				0.657	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			12	82	0	0	0	1	0	12	82				
UTP20	27340	broad.mit.edu	37	12	101769479	101769479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101769479G>T	ENST00000261637.4	+	56	7515	c.7341G>T	c.(7339-7341)aaG>aaT	p.K2447N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2447					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTTATCAAGGAATGTAATA	0.313																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(7339-7341)aaG>aaT		UTP20, small subunit (SSU) processome component, homolog (yeast)							68.0	67.0	67.0					12																	101769479		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101769479G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7341G>T	12.37:g.101769479G>T	ENSP00000261637:p.Lys2447Asn						p.K2447N	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			56	7515	+			2447					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7341G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825916	0.32237	.	.	ENSG00000120800	ENST00000261637	T	0.70516	-0.49	5.47	2.61	0.31194	Armadillo-type fold (1);	0.159246	0.53938	D	0.000051	T	0.57373	0.2049	L	0.50919	1.6	0.44956	D	0.997978	P	0.36683	0.565	B	0.30646	0.118	T	0.50767	-0.8789	10	0.22706	T	0.39	-12.9867	9.8626	0.41123	0.2924:0.0:0.7076:0.0	.	2447	O75691	UTP20_HUMAN	N	2447	ENSP00000261637:K2447N	ENSP00000261637:K2447N	K	+	3	2	UTP20	100293610	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.016000	0.29976	0.655000	0.30866	0.655000	0.94253	AAG		0.313	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		15	27	1	0	4.93089e-13	1	6.23885e-13	15	27				
THAP6	152815	broad.mit.edu	37	4	76452331	76452331	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76452331T>C	ENST00000311638.3	+	5	644	c.576T>C	c.(574-576)gaT>gaC	p.D192D	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000380837.3_Silent_p.D150D|THAP6_ENST00000514480.1_Silent_p.D192D	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	192						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATTAAAGGATGAATGTCTGA	0.393																																						ENST00000311638.3																			0				lung(5)	5						c.(574-576)gaT>gaC		THAP domain containing 6							127.0	132.0	130.0					4																	76452331		2203	4300	6503	SO:0001819	synonymous_variant	152815					microtubule cytoskeleton	DNA binding|metal ion binding	g.chr4:76452331T>C	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"""THAP (C2CH-type zinc finger) domain containing"""	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.576T>C	4.37:g.76452331T>C						THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000380837.3_Silent_p.D150D|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Silent_p.D192D|THAP6_ENST00000507556.1_Intron	p.D192D	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		5	644	+			192					B4E146|Q5HYJ7|Q5JPC6	Silent	SNP	ENST00000311638.3	37	c.576T>C	CCDS3568.1																																																																																				0.393	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		11	93	0	0	0	1	0	11	93				
TUBA1A	7846	broad.mit.edu	37	12	49579475	49579475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49579475G>A	ENST00000295766.5	-	4	1153	c.674C>T	c.(673-675)aCt>aTt	p.T225I	TUBA1A_ENST00000550767.1_Missense_Mutation_p.T190I|TUBA1A_ENST00000301071.7_Missense_Mutation_p.T225I|TUBA1A_ENST00000546918.1_3'UTR	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	225					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	ATTCAGGTTAGTATAGGTTGG	0.463																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(673-675)aCt>aTt		tubulin, alpha 1a							132.0	121.0	124.0					12																	49579475		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579475G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.674C>T	12.37:g.49579475G>A	ENSP00000439020:p.Thr225Ile					TUBA1A_ENST00000546918.1_3'UTR|TUBA1A_ENST00000550767.1_Missense_Mutation_p.T190I|TUBA1A_ENST00000295766.5_Missense_Mutation_p.T225I	p.T225I	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			4	1018	-			225					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.674C>T	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522859	0.27211	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767;ENST00000547939	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.01	5.01	0.66863	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	T	0.76198	0.3954	M	0.85777	2.775	0.80722	D	1	B	0.06786	0.001	B	0.22601	0.04	T	0.76664	-0.2876	10	0.87932	D	0	.	17.1006	0.86648	0.0:0.0:1.0:0.0	.	225	Q71U36	TBA1A_HUMAN	I	225;72;225;190;190	ENSP00000301071:T225I;ENSP00000439020:T225I;ENSP00000446637:T190I;ENSP00000450268:T190I	ENSP00000439020:T225I	T	-	2	0	TUBA1A	47865742	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.128000	0.77217	2.326000	0.78906	0.462000	0.41574	ACT		0.463	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		3	81	0	0	0	1	0	3	81				
ZNF562	54811	broad.mit.edu	37	19	9764264	9764264	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9764264C>A	ENST00000448622.1	-	6	804	c.642G>T	c.(640-642)aaG>aaT	p.K214N	ZNF562_ENST00000537617.1_Missense_Mutation_p.K98N|ZNF562_ENST00000453372.2_Missense_Mutation_p.K214N|ZNF562_ENST00000590155.1_Missense_Mutation_p.K213N|ZNF562_ENST00000453792.2_Missense_Mutation_p.K145N|ZNF562_ENST00000541032.1_Missense_Mutation_p.K177N|ZNF562_ENST00000293648.4_Missense_Mutation_p.K142N	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGCAAAATACTTAAAGCCTT	0.408																																						ENST00000448622.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(640-642)aaG>aaT		zinc finger protein 562							71.0	63.0	66.0					19																	9764264		2203	4298	6501	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764264C>A	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.642G>T	19.37:g.9764264C>A	ENSP00000411784:p.Lys214Asn					ZNF562_ENST00000537617.1_Missense_Mutation_p.K98N|ZNF562_ENST00000541032.1_Missense_Mutation_p.K177N|ZNF562_ENST00000590155.1_Missense_Mutation_p.K213N|ZNF562_ENST00000453792.2_Missense_Mutation_p.K145N|ZNF562_ENST00000293648.4_Missense_Mutation_p.K142N|ZNF562_ENST00000453372.2_Missense_Mutation_p.K214N	p.K214N	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			6	804	-			214					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.642G>T	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404424	0.25378	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	1.67	-3.33	0.04958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36552	0.0971	L	0.28458	0.855	0.09310	N	1	P;P;P;P;P	0.43826	0.728;0.77;0.818;0.611;0.557	B;B;P;B;B	0.47162	0.219;0.399;0.54;0.419;0.277	T	0.15867	-1.0422	9	0.27082	T	0.32	.	0.394	0.00415	0.2543:0.1858:0.1543:0.4057	.	98;213;177;214;142	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	N	214;214;142;177;145;98	ENSP00000410734:K214N;ENSP00000411784:K214N;ENSP00000293648:K142N;ENSP00000442614:K177N;ENSP00000440451:K145N;ENSP00000445816:K98N	ENSP00000293648:K142N	K	-	3	2	ZNF562	9625264	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-6.017000	0.00085	-1.773000	0.01290	0.313000	0.20887	AAG		0.408	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		16	47	1	0	3.45872e-05	1	3.88335e-05	16	47				
CELA2A	63036	broad.mit.edu	37	1	15789268	15789268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15789268C>A	ENST00000359621.4	+	4	293	c.268C>A	c.(268-270)Ctc>Atc	p.L90I		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCGGCACAACCTCTACGTTGC	0.592																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(268-270)Ctc>Atc		chymotrypsin-like elastase family, member 2A							77.0	82.0	80.0					1																	15789268		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789268C>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.268C>A	1.37:g.15789268C>A	ENSP00000352639:p.Leu90Ile						p.L90I	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			4	293	+			90			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.268C>A	CCDS157.1	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111406	0.20714	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.88664	-2.41	4.13	3.13	0.36017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.135405	0.32416	U	0.006135	D	0.89252	0.6662	L	0.43152	1.355	0.39788	D	0.972398	P	0.41929	0.765	P	0.55391	0.775	D	0.87590	0.2490	10	0.33141	T	0.24	.	11.2655	0.49108	0.1837:0.8163:0.0:0.0	.	90	P08217	CEL2A_HUMAN	I	127;90	ENSP00000352639:L90I	ENSP00000352639:L90I	L	+	1	0	CELA2A	15661855	1.000000	0.71417	0.226000	0.23910	0.008000	0.06430	1.769000	0.38522	1.862000	0.54008	0.465000	0.42564	CTC		0.592	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		8	74	1	0	0.000157383	1	0.00017284	8	74				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999761	112999761	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112999761A>G	ENST00000271277.6	+	6	1872	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	549					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGCCATTCACCTACTCCAG	0.552																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1645-1647)tcA>tcG		CTTNBP2 N-terminal like							156.0	144.0	148.0					1																	112999761		2203	4300	6503	SO:0001819	synonymous_variant	55917					actin cytoskeleton	protein binding	g.chr1:112999761A>G	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1647A>G	1.37:g.112999761A>G						RP4-671G15.3_ENST00000508462.1_RNA|CTTNBP2NL_ENST00000607039.1_3'UTR	p.S549S	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1872	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	549					B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.1647A>G	CCDS845.1																																																																																				0.552	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		45	51	0	0	0	1	0	45	51				
GPR37	2861	broad.mit.edu	37	7	124404176	124404176	+	Silent	SNP	G	G	A	rs149674781	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404176G>A	ENST00000303921.2	-	1	1505	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	285					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTGGCACACGATGCACATCA	0.572																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(853-855)atC>atT		G protein-coupled receptor 37 (endothelin receptor type B-like)		G		2,4404	4.2+/-10.8	0,2,2201	107.0	108.0	108.0		855	2.7	1.0	7	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	GPR37	NM_005302.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		285/614	124404176	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404176G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.855C>T	7.37:g.124404176G>A							p.I285I	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	1505	-			285					A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.855C>T	CCDS5792.1																																																																																				0.572	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		4	55	0	0	0	1	0	4	55				
RBM42	79171	broad.mit.edu	37	19	36124698	36124698	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124698C>T	ENST00000262633.4	+	7	899	c.794C>T	c.(793-795)gCt>gTt	p.A265V	RBM42_ENST00000588161.1_Missense_Mutation_p.A235V|RBM42_ENST00000360475.4_Missense_Mutation_p.A236V|RBM42_ENST00000589559.1_Missense_Mutation_p.A236V|RBM42_ENST00000592202.1_Missense_Mutation_p.A211V|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.A243V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	265	Necessary for interaction with HNRNPK. {ECO:0000250}.|Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTAGCGCGGCTGTGGCCGTG	0.721																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(793-795)gCt>gTt		RNA binding motif protein 42							12.0	18.0	16.0					19																	36124698		2172	4242	6414	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36124698C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.794C>T	19.37:g.36124698C>T	ENSP00000262633:p.Ala265Val					RBM42_ENST00000588161.1_Missense_Mutation_p.A235V|RBM42_ENST00000360475.4_Missense_Mutation_p.A236V|RBM42_ENST00000592202.1_Missense_Mutation_p.A211V|RBM42_ENST00000589871.1_Missense_Mutation_p.A243V|RBM42_ENST00000589559.1_Missense_Mutation_p.A236V|RBM42_ENST00000586618.1_Intron	p.A265V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	899	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		265			Necessary for interaction with HNRNPK (By similarity).|Pro-rich.		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.794C>T	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205836	0.39003	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06687	3.27;3.32	5.01	3.98	0.46160	.	0.235291	0.42821	D	0.000659	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	0.999996	B;B;B;B	0.26744	0.158;0.158;0.158;0.098	B;B;B;B	0.32090	0.14;0.14;0.14;0.066	T	0.35251	-0.9796	10	0.38643	T	0.18	-1.2049	9.2804	0.37725	0.0:0.9028:0.0:0.0972	.	231;236;235;265	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	V	265;236	ENSP00000262633:A265V;ENSP00000353663:A236V	ENSP00000262633:A265V	A	+	2	0	RBM42	40816538	0.339000	0.24784	0.073000	0.20177	0.572000	0.35998	2.311000	0.43717	1.347000	0.45714	0.650000	0.86243	GCT		0.721	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		3	2	0	0	0	1	0	3	2				
PYGL	5836	broad.mit.edu	37	14	51376748	51376748	+	Missense_Mutation	SNP	T	T	G	rs113993987		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51376748T>G	ENST00000216392.7	-	17	2374	c.2042A>C	c.(2041-2043)aAg>aCg	p.K681T	PYGL_ENST00000544180.2_Missense_Mutation_p.K647T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Missense_Mutation_p.K681T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	681					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TAGCATGAACTTCATATTGCC	0.488																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2041-2043)aAg>aCg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						185.0	168.0	174.0					14																	51376748		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51376748T>G		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2042A>C	14.37:g.51376748T>G	ENSP00000216392:p.Lys681Thr					PYGL_ENST00000532462.1_Missense_Mutation_p.K681T|PYGL_ENST00000544180.2_Missense_Mutation_p.K647T	p.K681T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			17	2374	-	all_epithelial(31;0.00825)|Breast(41;0.148)		681					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2042A>C	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799673	0.90538	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.95821	-3.82;-3.82;-3.82	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	H	0.98936	4.375	0.58432	D	0.999999	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.984;0.99;0.999	D	0.99521	1.0958	10	0.87932	D	0	-24.3116	14.9896	0.71377	0.0:0.0:0.0:1.0	.	647;647;681	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	T	681;647;681	ENSP00000431657:K681T;ENSP00000443787:K647T;ENSP00000216392:K681T	ENSP00000216392:K681T	K	-	2	0	PYGL	50446498	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.013000	0.88655	2.134000	0.65973	0.533000	0.62120	AAG		0.488	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		12	142	0	0	0	1	0	12	142				
PREX2	80243	broad.mit.edu	37	8	69069574	69069574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69069574G>T	ENST00000288368.4	+	35	4526	c.4249G>T	c.(4249-4251)Gga>Tga	p.G1417*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1417					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGCATGGAAGGATATTATTA	0.343																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(4249-4251)Gga>Tga		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							104.0	104.0	104.0					8																	69069574		2203	4300	6503	SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69069574G>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4249G>T	8.37:g.69069574G>T	ENSP00000288368:p.Gly1417*						p.G1417*	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			35	4526	+			1417					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	c.4249G>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	48	14.906239	0.99815	.	.	ENSG00000046889	ENST00000288368	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	.	.	.	X	1417	.	ENSP00000288368:G1417X	G	+	1	0	PREX2	69232128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.683000	0.91414	0.650000	0.86243	GGA		0.343	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		4	43	1	0	0.150653	1	0.152692	4	43				
EPHA10	284656	broad.mit.edu	37	1	38184381	38184381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38184381G>A	ENST00000373048.4	-	16	2863	c.2864C>T	c.(2863-2865)gCg>gTg	p.A955V	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.A955V|EPHA10_ENST00000330210.7_Missense_Mutation_p.A450V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	955	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCAGCAGCCGCGAAGCTGTC	0.672																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2863-2865)gCg>gTg		EPH receptor A10							22.0	27.0	25.0					1																	38184381		2028	4185	6213	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38184381G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2864C>T	1.37:g.38184381G>A	ENSP00000362139:p.Ala955Val					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.A450V|EPHA10_ENST00000427468.2_Missense_Mutation_p.A955V|EPHA10_ENST00000540011.1_3'UTR	p.A955V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			16	2863	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	955			SAM.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2864C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308261	0.23821	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.06294	3.32;3.32;3.32	5.16	5.16	0.70880	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	1.106060	0.07074	N	0.835899	T	0.06005	0.0156	N	0.20357	0.565	0.80722	D	1	B	0.25743	0.133	B	0.25140	0.058	T	0.38200	-0.9672	10	0.22706	T	0.39	.	11.4975	0.50417	0.0825:0.0:0.9175:0.0	.	955	Q5JZY3	EPHAA_HUMAN	V	450;955;955	ENSP00000330379:A450V;ENSP00000397746:A955V;ENSP00000362139:A955V	ENSP00000330379:A450V	A	-	2	0	EPHA10	37956968	0.472000	0.25870	0.006000	0.13384	0.018000	0.09664	3.579000	0.53900	2.573000	0.86826	0.491000	0.48974	GCG		0.672	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		17	27	0	0	0	1	0	17	27				
RNF6	6049	broad.mit.edu	37	13	26792679	26792679	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26792679C>A	ENST00000381588.4	-	4	1010	c.258G>T	c.(256-258)caG>caT	p.Q86H	RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000381570.3_Missense_Mutation_p.Q86H|RNF6_ENST00000346166.3_Missense_Mutation_p.Q86H|RNF6_ENST00000468480.1_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	86					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCAAGTCAGGCTGAGATGCTA	0.408																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(256-258)caG>caT		ring finger protein (C3H2C3 type) 6							206.0	193.0	198.0					13																	26792679		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26792679C>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.258G>T	13.37:g.26792679C>A	ENSP00000371000:p.Gln86His					RNF6_ENST00000381570.3_Missense_Mutation_p.Q86H|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.Q86H	p.Q86H	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	4	1010	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	86					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.258G>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	7.984	0.751871	0.15778	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.10005	2.92;2.92;2.92	5.22	3.48	0.39840	.	0.068968	0.64402	D	0.000014	T	0.12305	0.0299	M	0.71581	2.175	0.80722	D	1	B;B	0.29508	0.105;0.246	B;B	0.26202	0.042;0.067	T	0.04128	-1.0975	10	0.87932	D	0	-5.4527	6.0524	0.19792	0.1528:0.6926:0.0:0.1547	.	86;86	Q9Y252;Q9BZP5	RNF6_HUMAN;.	H	86	ENSP00000342121:Q86H;ENSP00000371000:Q86H;ENSP00000370982:Q86H	ENSP00000342121:Q86H	Q	-	3	2	RNF6	25690679	1.000000	0.71417	0.995000	0.50966	0.085000	0.17905	0.608000	0.24223	0.773000	0.33404	-0.140000	0.14226	CAG		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		37	79	1	0	1.32136e-16	1	1.70662e-16	37	79				
CLEC3A	10143	broad.mit.edu	37	16	78064481	78064481	+	Missense_Mutation	SNP	G	G	A	rs147323906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78064481G>A	ENST00000575655.1	+	3	418	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000299642.4_Missense_Mutation_p.A122T	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CGAAATCAACGCCCTCCAAGA	0.493																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(364-366)Gcc>Acc		C-type lectin domain family 3, member A		G	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	80.0	71.0	74.0		337	4.8	0.9	16	dbSNP_134	74	0,8600		0,0,4300	no	missense	CLEC3A	NM_005752.4	58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	113/198	78064481	1,12995	2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064481G>A	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.337G>A	16.37:g.78064481G>A	ENSP00000460682:p.Ala113Thr					CLEC3A_ENST00000575655.1_Missense_Mutation_p.A113T|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	p.A122T	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			3	449	+			113			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.364G>A		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278932	0.59758	2.27E-4	0.0	ENSG00000166509	ENST00000299642	.	.	.	5.76	4.81	0.61882	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.170449	0.56097	D	0.000023	T	0.54334	0.1852	M	0.66378	2.025	0.41027	D	0.985128	B	0.18461	0.028	B	0.17098	0.017	T	0.49437	-0.8940	9	0.06236	T	0.91	-26.7812	10.9005	0.47049	0.069:0.0:0.799:0.132	.	113	O75596	CLC3A_HUMAN	T	113	.	ENSP00000299642:A113T	A	+	1	0	CLEC3A	76621982	0.983000	0.35010	0.915000	0.36163	0.915000	0.54546	3.061000	0.49963	1.565000	0.49641	0.650000	0.86243	GCC		0.493	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		19	33	0	0	0	1	0	19	33				
TFIP11	24144	broad.mit.edu	37	22	26895172	26895172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26895172G>A	ENST00000407690.1	-	9	1510	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	TFIP11_ENST00000407431.1_Silent_p.D409D|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.D409D|TFIP11_ENST00000405938.1_Silent_p.D409D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	409					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATAGTACTTGTCCTGCAGGG	0.587																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1225-1227)gaC>gaT		tuftelin interacting protein 11							75.0	72.0	73.0					22																	26895172		2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26895172G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1227C>T	22.37:g.26895172G>A						TFIP11_ENST00000407148.1_Silent_p.D409D|TFIP11_ENST00000405938.1_Silent_p.D409D|TFIP11_ENST00000407431.1_Silent_p.D409D	p.D409D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			9	1510	-			409					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.1227C>T	CCDS13838.1																																																																																				0.587	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		8	59	0	0	0	1	0	8	59				
IL9R	3581	broad.mit.edu	37	X	155231119	155231119	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:155231119G>A	ENST00000244174.5	+	2	207				IL9R_ENST00000369423.2_Missense_Mutation_p.G31S|IL9R_ENST00000540897.1_Missense_Mutation_p.G21S|IL9R_ENST00000424344.3_De_novo_Start_OutOfFrame	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AACTTGCCACGGTGTTTCATG	0.547													g|||	1	0.000199681	0.0	0.0	5008	,	,		21499	0.0		0.0	False		,,,				2504	0.001					ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23								interleukin 9 receptor							307.0	300.0	303.0					X																	155231119		2081	4201	6282	SO:0001627	intron_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155231119G>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.29-1452G>A	X.37:g.155231119G>A						IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Missense_Mutation_p.G21S|IL9R_ENST00000369423.2_Missense_Mutation_p.G31S				Q01113	IL9R_HUMAN			0	254	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)							B9ZVT0|Q14634|Q8WWU1|Q96TF0	Translation_Start_Site	SNP	ENST00000244174.5	37		CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	11.80	1.746857	0.30955	.	.	ENSG00000124334	ENST00000369423;ENST00000540897	T;T	0.28255	1.62;1.65	1.01	-1.08	0.09936	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	1	B	0.26935	0.164	B	0.12156	0.007	T	0.17899	-1.0354	8	0.87932	D	0	.	3.9549	0.09385	0.5443:0.0:0.4557:0.0	.	31	B9ZVT0	.	S	31;21	ENSP00000358431:G31S;ENSP00000438112:G21S	ENSP00000358431:G31S	G	+	1	0	IL9R	154884313	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.939000	0.01545	-0.554000	0.06150	0.418000	0.28097	GGT		0.547	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		64	162	0	0	0	1	0	64	162				
ACADM	34	broad.mit.edu	37	1	76211522	76211522	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76211522C>T	ENST00000370841.4	+	8	1068	c.631C>T	c.(631-633)Cct>Tct	p.P211S	ACADM_ENST00000370834.5_Missense_Mutation_p.P244S|ACADM_ENST00000543667.1_Missense_Mutation_p.P22S|ACADM_ENST00000541113.1_Missense_Mutation_p.P175S|ACADM_ENST00000420607.2_Missense_Mutation_p.P215S	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	211					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TGATCCAGATCCTAAAGCTCC	0.378																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18	GRCh37	CM042922	ACADM	M		c.(631-633)Cct>Tct		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							101.0	99.0	100.0					1																	76211522		2203	4300	6503	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76211522C>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.631C>T	1.37:g.76211522C>T	ENSP00000359878:p.Pro211Ser					ACADM_ENST00000370834.5_Missense_Mutation_p.P244S|ACADM_ENST00000420607.2_Missense_Mutation_p.P215S|ACADM_ENST00000541113.1_Missense_Mutation_p.P175S|ACADM_ENST00000543667.1_Missense_Mutation_p.P22S	p.P211S	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			8	1068	+			211					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.631C>T	CCDS668.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320616	0.60634	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11	5.83	5.83	0.93111	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	L	0.48362	1.52	0.80722	D	1	B;B;B;B;P	0.45044	0.087;0.043;0.269;0.036;0.849	B;B;B;B;B	0.34180	0.016;0.008;0.097;0.048;0.177	D	0.95603	0.8665	10	0.38643	T	0.18	.	19.7203	0.96139	0.0:1.0:0.0:0.0	.	175;125;244;215;211	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	S	211;244;175;22;215	ENSP00000359878:P211S;ENSP00000359871:P244S;ENSP00000442324:P175S;ENSP00000446176:P22S;ENSP00000409612:P215S	ENSP00000359871:P244S	P	+	1	0	ACADM	75984110	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.651000	0.83577	2.753000	0.94483	0.585000	0.79938	CCT		0.378	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			31	81	0	0	0	1	0	31	81				
OFCC1	266553	broad.mit.edu	37	6	9900615	9900615	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:9900615C>A	ENST00000316020.6	-	6	654	c.655G>T	c.(655-657)Gag>Tag	p.E219*	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	174										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CTTTGGAACTCCTCAAGGTGA	0.433																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.(655-657)Gag>Tag		orofacial cleft 1 candidate 1							112.0	117.0	115.0					6																	9900615		2203	4300	6503	SO:0001587	stop_gained	266553							g.chr6:9900615C>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.655G>T	6.37:g.9900615C>A	ENSP00000325053:p.Glu219*					OFCC1_ENST00000472329.1_5'UTR	p.E219*							6	654	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Nonsense_Mutation	SNP	ENST00000316020.6	37	c.655G>T		.	.	.	.	.	.	.	.	.	.	C	13.42	2.233207	0.39498	.	.	ENSG00000181355	ENST00000316020	.	.	.	5.32	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.629	0.51162	0.0:0.6647:0.3353:0.0	.	.	.	.	X	219	.	.	E	-	1	0	OFCC1	10008601	1.000000	0.71417	0.110000	0.21437	0.023000	0.10783	2.859000	0.48364	2.479000	0.83701	0.650000	0.86243	GAG		0.433	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		4	83	1	0	0.00024832	1	0.0002712	4	83				
PAPOLA	10914	broad.mit.edu	37	14	96994341	96994341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96994341G>T	ENST00000216277.8	+	6	713	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000557320.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000557471.1_Nonsense_Mutation_p.E165*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	165					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGATGGGATAGAGGTAAGGTA	0.333																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(493-495)Gag>Tag		poly(A) polymerase alpha							174.0	168.0	170.0					14																	96994341		2203	4300	6503	SO:0001587	stop_gained	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96994341G>T	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.493G>T	14.37:g.96994341G>T	ENSP00000216277:p.Glu165*					PAPOLA_ENST00000557320.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000557471.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.E165*	p.E165*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	6	713	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	165					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Nonsense_Mutation	SNP	ENST00000216277.8	37	c.493G>T	CCDS9946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.950070|4.950070	0.92660|0.92660	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000392990|ENST00000553461	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.050123|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.45353|.	T|.	0.12|.	.|.	20.0211|20.0211	0.97503|0.97503	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	165;165;181;165;165|50	.|.	ENSP00000216277:E165X|.	E|X	+|+	1|3	0|2	PAPOLA|PAPOLA	96064094|96064094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.424000|9.424000	0.97464|0.97464	2.741000|2.741000	0.93983|0.93983	0.555000|0.555000	0.69702|0.69702	GAG|TAG		0.333	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			52	109	1	0	2.74224e-37	1	3.69358e-37	52	109				
RIOK3	8780	broad.mit.edu	37	18	21044578	21044578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21044578G>A	ENST00000339486.3	+	5	1146	c.529G>A	c.(529-531)Gca>Aca	p.A177T	RIOK3_ENST00000577501.1_Missense_Mutation_p.A177T|RIOK3_ENST00000581585.1_Missense_Mutation_p.A161T	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	177					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGAACACAGCAAGAATGGA	0.333																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(529-531)Gca>Aca		RIO kinase 3							77.0	72.0	74.0					18																	21044578		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21044578G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.529G>A	18.37:g.21044578G>A	ENSP00000341874:p.Ala177Thr					RIOK3_ENST00000581585.1_Missense_Mutation_p.A161T|RIOK3_ENST00000577501.1_Missense_Mutation_p.A177T	p.A177T	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			5	1146	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		177					Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.529G>A	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284208	0.80803	.	.	ENSG00000101782	ENST00000339486	T	0.07021	3.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	L	0.60455	1.87	0.80722	D	1	P;D;D	0.57899	0.882;0.981;0.968	B;P;B	0.48921	0.391;0.595;0.391	T	0.00964	-1.1498	10	0.23302	T	0.38	-3.6035	20.4745	0.99168	0.0:0.0:1.0:0.0	.	161;177;177	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	T	177	ENSP00000341874:A177T	ENSP00000341874:A177T	A	+	1	0	RIOK3	19298576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.449000	0.97603	2.941000	0.99782	0.655000	0.94253	GCA		0.333	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		6	30	0	0	0	1	0	6	30				
GPRASP1	9737	broad.mit.edu	37	X	101912339	101912339	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912339T>A	ENST00000361600.5	+	5	4299	c.3498T>A	c.(3496-3498)atT>atA	p.I1166I	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.I1166I|GPRASP1_ENST00000444152.1_Silent_p.I1166I|GPRASP1_ENST00000537097.1_Silent_p.I1166I	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1166	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGAAAAAATTCGGGATCCTT	0.373																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3496-3498)atT>atA		G protein-coupled receptor associated sorting protein 1							65.0	63.0	64.0					X																	101912339		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101912339T>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3498T>A	X.37:g.101912339T>A						GPRASP1_ENST00000415986.1_Silent_p.I1166I|GPRASP1_ENST00000361600.5_Silent_p.I1166I|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.I1166I	p.I1166I	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4311	+			1166			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3498T>A	CCDS35352.1																																																																																				0.373	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		27	50	0	0	0	1	0	27	50				
ZWINT	11130	broad.mit.edu	37	10	58118442	58118442	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:58118442G>A	ENST00000373944.3	-	7	705	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	ZWINT_ENST00000318387.2_Silent_p.L103L|ZWINT_ENST00000361148.6_Silent_p.L176L|ZWINT_ENST00000395405.1_Silent_p.L223L|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	223					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGGAACAACAGCTTACCCTGC	0.517																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(667-669)Ctg>Ttg		ZW10 interacting kinetochore protein							57.0	55.0	56.0					10																	58118442		2203	4300	6503	SO:0001819	synonymous_variant	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118442G>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.667C>T	10.37:g.58118442G>A						ZWINT_ENST00000318387.2_Silent_p.L103L|ZWINT_ENST00000361148.6_Silent_p.L176L|ZWINT_ENST00000395405.1_Silent_p.L223L|ZWINT_ENST00000460654.1_5'UTR	p.L223L			O95229	ZWINT_HUMAN			7	705	-			223					A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	ENST00000373944.3	37	c.667C>T	CCDS7249.1																																																																																				0.517	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			15	26	0	0	0	1	0	15	26				
ZNF347	84671	broad.mit.edu	37	19	53644945	53644945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53644945C>A	ENST00000334197.7	-	5	1204	c.1136G>T	c.(1135-1137)gGg>gTg	p.G379V	ZNF347_ENST00000601469.2_Missense_Mutation_p.G380V|ZNF347_ENST00000452676.2_Missense_Mutation_p.G380V|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGGCTTTCCCACACTCATT	0.418																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1138-1140)gGg>gTg		zinc finger protein 347							95.0	96.0	96.0					19																	53644945		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644945C>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1136G>T	19.37:g.53644945C>A	ENSP00000334146:p.Gly379Val					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G380V|ZNF347_ENST00000334197.7_Missense_Mutation_p.G379V	p.G380V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1565	-			379					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1139G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220676	0.39201	.	.	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	T;T	0.07444	3.19;3.19	2.85	-0.732	0.11147	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31295	0.0792	M	0.93241	3.395	0.40275	D	0.978336	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.983	T	0.13202	-1.0518	9	0.87932	D	0	.	6.6663	0.23042	0.0:0.6345:0.0:0.3655	.	380;379	G5E9N4;Q96SE7	.;ZN347_HUMAN	V	379;380;53	ENSP00000334146:G379V;ENSP00000405218:G380V	ENSP00000334146:G379V	G	-	2	0	ZNF347	58336757	0.946000	0.32159	0.006000	0.13384	0.009000	0.06853	2.327000	0.43858	-0.160000	0.11002	-0.136000	0.14681	GGG		0.418	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	89	1	0	2.17888e-05	1	2.45068e-05	9	89				
COPS4	51138	broad.mit.edu	37	4	83984237	83984237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984237C>T	ENST00000264389.2	+	7	859	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	COPS4_ENST00000509093.1_Missense_Mutation_p.R242C|COPS4_ENST00000503682.1_Missense_Mutation_p.R242C|COPS4_ENST00000511653.1_Missense_Mutation_p.R242C	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	242	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AGGGCAGCAGCGTTCTCGGAT	0.378																																						ENST00000509093.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(724-726)Cgt>Tgt		COP9 signalosome subunit 4							82.0	83.0	83.0					4																	83984237		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83984237C>T	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.724C>T	4.37:g.83984237C>T	ENSP00000264389:p.Arg242Cys					COPS4_ENST00000503682.1_Missense_Mutation_p.R242C|COPS4_ENST00000511653.1_Missense_Mutation_p.R242C|COPS4_ENST00000264389.2_Missense_Mutation_p.R242C	p.R242C	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN			7	1502	+		Hepatocellular(203;0.114)	242			PCI.		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.724C>T	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333445	0.81801	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.62105	0.12;0.46;0.48;0.05;0.42	5.69	5.69	0.88448	.	0.055024	0.85682	D	0.000000	D	0.84986	0.5594	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.997;0.999	D	0.88003	0.2757	10	0.87932	D	0	-7.8422	19.7971	0.96490	0.0:1.0:0.0:0.0	.	242;242;242;242	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	C	242;242;130;242;242	ENSP00000425976:R242C;ENSP00000264389:R242C;ENSP00000425486:R130C;ENSP00000424791:R242C;ENSP00000424655:R242C	ENSP00000264389:R242C	R	+	1	0	COPS4	84203261	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.547000	0.82146	2.666000	0.90696	0.585000	0.79938	CGT		0.378	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			33	54	0	0	0	1	0	33	54				
MORN1	79906	broad.mit.edu	37	1	2288928	2288928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2288928G>T	ENST00000378531.3	-	10	1152	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.L327M	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	327										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCAGCTCCAGGTCTCCCCTG	0.672																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(979-981)Ctg>Atg		MORN repeat containing 1							48.0	52.0	50.0					1																	2288928		2203	4300	6503	SO:0001583	missense	79906							g.chr1:2288928G>T	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.979C>A	1.37:g.2288928G>T	ENSP00000367792:p.Leu327Met					MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.L327M	p.L327M	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	10	1152	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	327					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.979C>A	CCDS40.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281807	0.23392	.	.	ENSG00000116151	ENST00000378531;ENST00000378529	T;T	0.53206	0.86;0.63	3.09	1.11	0.20524	.	.	.	.	.	T	0.37598	0.1009	L	0.51422	1.61	0.09310	N	1	B;P	0.46277	0.32;0.875	B;B	0.41691	0.192;0.364	T	0.24119	-1.0169	9	0.51188	T	0.08	.	3.8507	0.08954	0.1659:0.3124:0.5217:0.0	.	327;327	Q5T089-2;Q5T089	.;MORN1_HUMAN	M	327	ENSP00000367792:L327M;ENSP00000367790:L327M	ENSP00000367790:L327M	L	-	1	2	MORN1	2278788	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.340000	0.19892	0.302000	0.22762	0.563000	0.77884	CTG		0.672	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		23	58	1	0	3.7963e-18	1	4.94062e-18	23	58				
ANKHD1	54882	broad.mit.edu	37	5	139909249	139909249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139909249G>T	ENST00000360839.2	+	29	6872	c.6718G>T	c.(6718-6720)Gat>Tat	p.D2240Y	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2240Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D2240Y|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Missense_Mutation_p.D623Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2240						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGCTACAGATGCCTCTTT	0.502																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(6718-6720)Gat>Tat		ankyrin repeat and KH domain containing 1							210.0	194.0	199.0					5																	139909249		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139909249G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6718G>T	5.37:g.139909249G>T	ENSP00000354085:p.Asp2240Tyr					ANKHD1_ENST00000544120.1_Missense_Mutation_p.D623Y|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D2240Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2240Y	p.D2240Y	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6842	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6718G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816158|2.816158	0.50527|0.50527	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000435794;ENST00000432301	T;T;T;T;T;T;T|.	0.70399|.	-0.42;-0.48;1.65;1.65;1.24;-0.48;0.61|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.053562|.	0.64402|.	D|.	0.000001|.	T|T	0.69566|0.69566	0.3125|0.3125	L|L	0.50333|0.50333	1.59|1.59	0.49299|0.49299	D|D	0.99977|0.99977	D;D;D;D;D;D|.	0.89917|.	0.998;0.999;0.998;1.0;0.994;0.998|.	D;D;D;D;P;D|.	0.81914|.	0.977;0.995;0.951;0.94;0.888;0.988|.	T|T	0.66484|0.66484	-0.5912|-0.5912	10|5	0.72032|.	D|.	0.01|.	.|.	18.424|18.424	0.90602|0.90602	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	623;670;623;2240;2240;2240|.	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	Y|I	2240;2240;2240;896;762;623;2240;251|730;690	ENSP00000354085:D2240Y;ENSP00000297183:D2240Y;ENSP00000393204:D896Y;ENSP00000390034:D762Y;ENSP00000437687:D623Y;ENSP00000432016:D2240Y;ENSP00000396882:D251Y|.	ENSP00000396882:D251Y|.	D|R	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139889433|139889433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	4.246000|4.246000	0.58740|0.58740	2.669000|2.669000	0.90835|0.90835	0.591000|0.591000	0.81541|0.81541	GAT|AGA		0.502	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		12	110	1	0	0.0167234	1	0.0172941	12	110				
MCF2L	23263	broad.mit.edu	37	13	113729440	113729440	+	Silent	SNP	G	G	A	rs145592732		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729440G>A	ENST00000375608.3	+	12	1393	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	MCF2L_ENST00000434480.2_Silent_p.A421A|MCF2L_ENST00000421756.1_Silent_p.A419A|MCF2L_ENST00000397030.1_Silent_p.A448A|MCF2L_ENST00000375604.2_Silent_p.A472A|MCF2L_ENST00000442652.2_Silent_p.A445A|MCF2L_ENST00000375597.4_Silent_p.A413A|MCF2L_ENST00000535094.2_Silent_p.A415A|MCF2L_ENST00000423482.2_Silent_p.A413A|MCF2L_ENST00000375601.3_Silent_p.A419A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	445					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGTTCTCTGCGGAGATCGCAA	0.667																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1342-1344)gcG>gcA		MCF.2 cell line derived transforming sequence-like							45.0	51.0	49.0					13																	113729440		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729440G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1335G>A	13.37:g.113729440G>A						MCF2L_ENST00000375597.4_Silent_p.A413A|MCF2L_ENST00000375608.3_Silent_p.A445A|MCF2L_ENST00000535094.2_Silent_p.A415A|MCF2L_ENST00000434480.2_Silent_p.A421A|MCF2L_ENST00000375601.3_Silent_p.A419A|MCF2L_ENST00000442652.2_Silent_p.A445A|MCF2L_ENST00000375604.2_Silent_p.A472A|MCF2L_ENST00000421756.1_Silent_p.A419A|MCF2L_ENST00000423482.2_Silent_p.A413A	p.A448A			O15068	MCF2L_HUMAN			11	1381	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	445					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1344G>A		.	.	.	.	.	.	.	.	.	.	G	0.202	-1.044129	0.01997	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.94	-9.88	0.00467	.	.	.	.	.	T	0.32102	0.0818	.	.	.	0.53005	D	0.999964	.	.	.	.	.	.	T	0.46555	-0.9183	4	.	.	.	.	1.1271	0.01737	0.28:0.1093:0.2072:0.4036	.	.	.	.	R	76	.	.	G	+	1	0	MCF2L	112777441	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.636000	0.00407	-3.674000	0.00123	-2.296000	0.00263	GGA		0.667	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			21	26	0	0	0	1	0	21	26				
USP9X	8239	broad.mit.edu	37	X	41091710	41091710	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41091710G>A	ENST00000324545.8	+	45	8279	c.7646G>A	c.(7645-7647)gGc>gAc	p.G2549D	RP5-1172N10.4_ENST00000602481.1_RNA|USP9X_ENST00000378308.2_Missense_Mutation_p.G2533D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2549					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAGAACTGGCCAACGAGCA	0.433																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(7645-7647)gGc>gAc		ubiquitin specific peptidase 9, X-linked							122.0	102.0	109.0					X																	41091710		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41091710G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7646G>A	X.37:g.41091710G>A	ENSP00000316357:p.Gly2549Asp					USP9X_ENST00000378308.2_Missense_Mutation_p.G2533D	p.G2549D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			45	8279	+			2549					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.7646G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551270	0.45383	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04119	3.87;3.7	5.79	5.79	0.91817	.	0.103999	0.64402	D	0.000003	T	0.12944	0.0314	N	0.19112	0.55	0.80722	D	1	D;B	0.89917	1.0;0.155	D;B	0.83275	0.996;0.05	T	0.11203	-1.0597	10	0.66056	D	0.02	.	18.9421	0.92608	0.0:0.0:1.0:0.0	.	2533;2549	Q93008-1;Q93008	.;USP9X_HUMAN	D	2533;2549	ENSP00000367558:G2533D;ENSP00000316357:G2549D	ENSP00000316357:G2549D	G	+	2	0	USP9X	40976654	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.709000	0.91379	2.422000	0.82143	0.594000	0.82650	GGC		0.433	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		18	32	0	0	0	1	0	18	32				
SMC6	79677	broad.mit.edu	37	2	17889964	17889964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17889964G>A	ENST00000448223.2	-	17	2056	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SMC6_ENST00000351948.4_Missense_Mutation_p.A596V|SMC6_ENST00000381272.4_Missense_Mutation_p.A622V|SMC6_ENST00000402989.1_Missense_Mutation_p.A596V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	596	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCCACAACCGCATTATCTAT	0.358																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1786-1788)gCg>gTg		structural maintenance of chromosomes 6							97.0	95.0	96.0					2																	17889964		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17889964G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1787C>T	2.37:g.17889964G>A	ENSP00000404092:p.Ala596Val					SMC6_ENST00000381272.4_Missense_Mutation_p.A622V|SMC6_ENST00000402989.1_Missense_Mutation_p.A596V|SMC6_ENST00000351948.4_Missense_Mutation_p.A596V	p.A596V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			17	2056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		596			Flexible hinge.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.1787C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558525	0.86231	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.30981	2.55;2.55;2.55;2.55;1.51	6.03	5.15	0.70609	RecF/RecN/SMC (1);	0.095855	0.64402	N	0.000001	T	0.37652	0.1011	L	0.47716	1.5	0.39636	D	0.970256	D;P;P	0.56968	0.978;0.769;0.92	P;B;P	0.50590	0.645;0.228;0.593	T	0.16424	-1.0403	10	0.33940	T	0.23	.	15.0523	0.71885	0.0674:0.0:0.9326:0.0	.	622;622;596	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	V	596;596;622;596;622	ENSP00000404092:A596V;ENSP00000323439:A596V;ENSP00000370672:A622V;ENSP00000384539:A596V;ENSP00000408644:A622V	ENSP00000323439:A596V	A	-	2	0	SMC6	17753445	1.000000	0.71417	0.992000	0.48379	0.902000	0.53008	6.771000	0.74996	1.562000	0.49601	0.655000	0.94253	GCG		0.358	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		28	46	0	0	0	1	0	28	46				
KCNMB3	27094	broad.mit.edu	37	3	178960736	178960736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178960736G>A	ENST00000314235.5	-	4	1307	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	KCNMB3_ENST00000486944.1_Intron|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000349697.2_Silent_p.L264L|KCNMB3_ENST00000485523.1_Silent_p.L244L|KCNMB3_ENST00000392685.2_Silent_p.L262L	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	266					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	ATAATGCACAGTTTGAACTGA	0.413																																						ENST00000392685.2																			0				NS(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(784-786)Ctg>Ttg		potassium large conductance calcium-activated channel, subfamily M beta member 3							116.0	112.0	113.0					3																	178960736		2203	4300	6503	SO:0001819	synonymous_variant	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178960736G>A	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.796C>T	3.37:g.178960736G>A						KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000349697.2_Silent_p.L264L|KCNMB3_ENST00000314235.5_Silent_p.L266L|KCNMB3_ENST00000486944.1_Intron|KCNMB3_ENST00000485523.1_Silent_p.L244L	p.L262L	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		3	1423	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		266					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000314235.5	37	c.784C>T	CCDS3226.1																																																																																				0.413	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1			46	65	0	0	0	1	0	46	65				
MAP1LC3A	84557	broad.mit.edu	37	20	33147675	33147675	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147675C>T	ENST00000360668.3	+	4	1100	c.339C>T	c.(337-339)taC>taT	p.Y113Y	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Silent_p.Y113Y|MAP1LC3A_ENST00000374837.3_Silent_p.Y117Y			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	113					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						ATATGGTCTACGCCTCCCAGG	0.637																																						ENST00000360668.3																			0				cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						c.(337-339)taC>taT		microtubule-associated protein 1 light chain 3 alpha							39.0	42.0	41.0					20																	33147675		2203	4300	6503	SO:0001819	synonymous_variant	84557				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	g.chr20:33147675C>T		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.339C>T	20.37:g.33147675C>T						MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Silent_p.Y113Y|MAP1LC3A_ENST00000374837.3_Silent_p.Y117Y	p.Y113Y			Q9H492	MLP3A_HUMAN			4	1100	+			113					E1P5P4|E1P5P5|Q9BXW5	Silent	SNP	ENST00000360668.3	37	c.339C>T	CCDS13238.1																																																																																				0.637	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		19	33	0	0	0	1	0	19	33				
VCAN	1462	broad.mit.edu	37	5	82817011	82817011	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82817011G>T	ENST00000265077.3	+	7	3451	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E962D|VCAN_ENST00000512590.2_Missense_Mutation_p.E914D|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	962	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GCACCCAAGAGCCTACTACTT	0.433																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2884-2886)gaG>gaT		versican							126.0	122.0	123.0					5																	82817011		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817011G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2886G>T	5.37:g.82817011G>T	ENSP00000265077:p.Glu962Asp					VCAN_ENST00000512590.2_Missense_Mutation_p.E914D|VCAN_ENST00000342785.4_Missense_Mutation_p.E962D|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	p.E962D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3451	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	962			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2886G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.769040	0.31320	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.23950	1.88;1.88;1.88	5.78	2.5	0.30297	.	0.342563	0.24871	N	0.034932	T	0.23094	0.0558	M	0.65975	2.015	0.28632	N	0.907616	P;P	0.46142	0.873;0.799	B;B	0.38428	0.273;0.255	T	0.17592	-1.0364	10	0.59425	D	0.04	.	6.8195	0.23849	0.3333:0.0:0.6667:0.0	.	962;962	P13611-3;P13611	.;CSPG2_HUMAN	D	962;962;914	ENSP00000265077:E962D;ENSP00000342768:E962D;ENSP00000425959:E914D	ENSP00000265077:E962D	E	+	3	2	VCAN	82852767	0.003000	0.15002	1.000000	0.80357	0.946000	0.59487	0.002000	0.13061	0.510000	0.28216	0.591000	0.81541	GAG		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		45	81	1	0	2.74695e-27	1	3.66379e-27	45	81				
ZDHHC5	25921	broad.mit.edu	37	11	57466563	57466563	+	Missense_Mutation	SNP	G	G	A	rs563009033		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57466563G>A	ENST00000287169.3	+	11	3017	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R499H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	552					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAGTTGCTGCGCCAGTCACCC	0.617																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1654-1656)cGc>cAc		zinc finger, DHHC-type containing 5							59.0	64.0	62.0					11																	57466563		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466563G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1655G>A	11.37:g.57466563G>A	ENSP00000287169:p.Arg552His					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R499H	p.R552H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	3017	+			552					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1655G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286246	0.40494	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.59502	0.26;1.26	5.3	4.38	0.52667	.	0.279319	0.29451	N	0.012117	T	0.24928	0.0605	N	0.04090	-0.28	0.32255	N	0.57096	P	0.39071	0.658	B	0.24006	0.05	T	0.31558	-0.9939	10	0.44086	T	0.13	-6.4279	5.2178	0.15352	0.1226:0.0:0.6816:0.1958	.	552	Q9C0B5	ZDHC5_HUMAN	H	499;552	ENSP00000432202:R499H;ENSP00000287169:R552H	ENSP00000287169:R552H	R	+	2	0	ZDHHC5	57223139	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.221000	0.42917	1.453000	0.47775	0.655000	0.94253	CGC		0.617	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		40	47	0	0	0	1	0	40	47				
WNK4	65266	broad.mit.edu	37	17	40939405	40939405	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40939405A>G	ENST00000246914.5	+	7	1607	c.1586A>G	c.(1585-1587)gAa>gGa	p.E529G	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	529					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGCAAGGGAATTGGAGGCA	0.627																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1585-1587)gAa>gGa		WNK lysine deficient protein kinase 4							121.0	113.0	115.0					17																	40939405		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939405A>G	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1586A>G	17.37:g.40939405A>G	ENSP00000246914:p.Glu529Gly					WNK4_ENST00000587705.1_3'UTR	p.E529G	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1607	+		Breast(137;0.000143)	529					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1586A>G	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243725	0.22796	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.73152	-0.72	4.87	3.78	0.43462	.	0.139126	0.32687	N	0.005780	T	0.63604	0.2525	L	0.49778	1.585	0.42406	D	0.992582	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.17433	0.018;0.013;0.001	T	0.59721	-0.7401	10	0.52906	T	0.07	-11.3517	10.3382	0.43862	0.92:0.0:0.08:0.0	.	529;529;529	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	G	529;301	ENSP00000246914:E529G	ENSP00000246914:E529G	E	+	2	0	WNK4	38192931	0.995000	0.38212	0.443000	0.26883	0.065000	0.16274	2.389000	0.44407	0.698000	0.31739	0.374000	0.22700	GAA		0.627	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			8	52	0	0	0	1	0	8	52				
AGTPBP1	23287	broad.mit.edu	37	9	88248234	88248234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88248234C>T	ENST00000357081.3	-	14	1502	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	453					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATAGGACCACGTACTTTTCC	0.333																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(1357-1359)cGt>cAt		ATP/GTP binding protein 1							57.0	61.0	60.0					9																	88248234		2192	4275	6467	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88248234C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1358G>A	9.37:g.88248234C>T	ENSP00000349592:p.Arg453His					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H	p.R453H			Q9UPW5	CBPC1_HUMAN			14	1502	-			453					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.1358G>A		.	.	.	.	.	.	.	.	.	.	C	12.04	1.819254	0.32145	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.44482	2.25;2.26;2.24;0.92	6.07	4.17	0.49024	.	0.516933	0.22063	N	0.065157	T	0.30293	0.0760	N	0.14661	0.345	0.19300	N	0.999977	D;D;B;D	0.61697	0.99;0.958;0.224;0.988	P;B;B;P	0.50617	0.459;0.361;0.018;0.646	T	0.06716	-1.0811	10	0.22706	T	0.39	-0.2971	7.0986	0.25323	0.1359:0.7169:0.0:0.1473	.	465;453;291;413	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	H	453;413;465;291	ENSP00000349592:R453H;ENSP00000365251:R413H;ENSP00000365277:R465H;ENSP00000402804:R291H	ENSP00000349592:R453H	R	-	2	0	AGTPBP1	87438054	0.001000	0.12720	0.002000	0.10522	0.898000	0.52572	1.119000	0.31258	0.835000	0.34877	-0.355000	0.07637	CGT		0.333	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		32	74	0	0	0	1	0	32	74				
GPRIN1	114787	broad.mit.edu	37	5	176025661	176025661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025661G>A	ENST00000303991.4	-	2	1352	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	392					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTAGTATCCGTGTGGCCAGA	0.522																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1174-1176)aCg>aTg		G protein regulated inducer of neurite outgrowth 1							62.0	57.0	59.0					5																	176025661		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176025661G>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1175C>T	5.37:g.176025661G>A	ENSP00000305839:p.Thr392Met						p.T392M	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1352	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	392					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.1175C>T	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	g	13.04	2.117460	0.37339	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.06933	3.24	3.3	-5.74	0.02391	.	3.575270	0.00948	N	0.002934	T	0.08447	0.0210	L	0.50333	1.59	0.09310	N	1	B	0.24675	0.109	B	0.14023	0.01	T	0.30504	-0.9976	10	0.41790	T	0.15	14.4866	7.2941	0.26383	0.3396:0.1323:0.5281:0.0	.	392	Q7Z2K8	GRIN1_HUMAN	M	392	ENSP00000305839:T392M	ENSP00000305839:T392M	T	-	2	0	GPRIN1	175958267	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.233000	0.09041	-1.145000	0.02858	-0.372000	0.07161	ACG		0.522	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		6	49	0	0	0	1	0	6	49				
PISD	23761	broad.mit.edu	37	22	32016586	32016586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32016586C>T	ENST00000439502.2	-	7	1181	c.958G>A	c.(958-960)Gct>Act	p.A320T	PISD_ENST00000336566.4_Missense_Mutation_p.A319T|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Intron|PISD_ENST00000382151.2_Missense_Mutation_p.A286T|PISD_ENST00000266095.5_Missense_Mutation_p.A286T			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	320					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GCCCCCACAGCTGTCAGTGAG	0.582																																						ENST00000382151.2																			0				central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(856-858)Gct>Act		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						133.0	111.0	118.0					22																	32016586		2203	4300	6503	SO:0001583	missense	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32016586C>T		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.958G>A	22.37:g.32016586C>T	ENSP00000391739:p.Ala320Thr					PISD_ENST00000336566.4_Missense_Mutation_p.A319T|PISD_ENST00000266095.5_Missense_Mutation_p.A286T|PISD_ENST00000397500.1_Intron|PISD_ENST00000439502.2_Missense_Mutation_p.A320T|PISD_ENST00000478893.1_5'UTR	p.A286T			Q9UG56	PISD_HUMAN			7	1275	-			320					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37	c.856G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.594478|4.594478	0.86953|0.86953	.|.	.|.	ENSG00000241878|ENSG00000241878	ENST00000435900|ENST00000382151;ENST00000266095;ENST00000439502;ENST00000336566;ENST00000451635	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87095	.|0.6092	H|H	0.94582|0.94582	3.555|3.555	0.80722|0.80722	D|D	1|1	.|D;P	.|0.71674	.|0.998;0.949	.|D;D	.|0.79784	.|0.993;0.962	.|D	.|0.89291	.|0.3619	.|9	.|0.51188	.|T	.|0.08	.|-16.1089	18.6011|18.6011	0.91248|0.91248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|320;286	.|Q9UG56;Q9UG56-2	.|PISD_HUMAN;.	.|T	-1|286;286;320;319;286	.|.	.|ENSP00000266095:A286T	.|A	-|-	.|1	.|0	PISD|PISD	30346586|30346586	1.000000|1.000000	0.71417|0.71417	0.244000|0.244000	0.24202|0.24202	0.935000|0.935000	0.57460|0.57460	7.462000|7.462000	0.80851|0.80851	2.645000|2.645000	0.89757|0.89757	0.467000|0.467000	0.42956|0.42956	.|GCT		0.582	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			3	36	0	0	0	1	0	3	36				
OGT	8473	broad.mit.edu	37	X	70783181	70783181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70783181G>A	ENST00000373719.3	+	18	2485	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	OGT_ENST00000373701.3_Missense_Mutation_p.M746I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	756					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTTTTCAGATGAAGTGTCCTG	0.353																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2266-2268)atG>atA		O-linked N-acetylglucosamine (GlcNAc) transferase							109.0	96.0	101.0					X																	70783181		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70783181G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2268G>A	X.37:g.70783181G>A	ENSP00000362824:p.Met756Ile					OGT_ENST00000373701.3_Missense_Mutation_p.M746I	p.M756I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			18	2485	+	Renal(35;0.156)		756					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2268G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588474	0.28357	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.71103	-0.54;-0.54	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	N	0.08118	0	0.80722	D	1	B;B;B	0.15141	0.01;0.012;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.47433	-0.9118	10	0.20519	T	0.43	.	18.1023	0.89509	0.0:0.0:1.0:0.0	.	630;746;756	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	I	756;746	ENSP00000362824:M756I;ENSP00000362805:M746I	ENSP00000362805:M746I	M	+	3	0	OGT	70699906	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.659000	0.83766	2.466000	0.83321	0.594000	0.82650	ATG		0.353	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		45	55	0	0	0	1	0	45	55				
HOXA2	3199	broad.mit.edu	37	7	27140382	27140382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27140382G>A	ENST00000222718.5	-	2	1404	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	365					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGGTGAGTGTGTCTGTAAA	0.433																																						ENST00000222718.5																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						c.(1093-1095)aCa>aTa		homeobox A2							95.0	95.0	95.0					7																	27140382		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140382G>A		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1094C>T	7.37:g.27140382G>A	ENSP00000222718:p.Thr365Ile						p.T365I	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN			2	1404	-			365					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.1094C>T	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272280	0.80580	.	.	ENSG00000105996	ENST00000222718	T	0.10288	2.89	5.57	5.57	0.84162	.	0.050346	0.85682	D	0.000000	T	0.34250	0.0891	M	0.79258	2.445	0.58432	D	0.999999	D	0.65815	0.995	P	0.61800	0.894	T	0.05468	-1.0883	10	0.87932	D	0	.	19.1504	0.93485	0.0:0.0:1.0:0.0	.	365	O43364	HXA2_HUMAN	I	365	ENSP00000222718:T365I	ENSP00000222718:T365I	T	-	2	0	HOXA2	27106907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.441000	0.97557	2.618000	0.88619	0.655000	0.94253	ACA		0.433	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			34	135	0	0	0	1	0	34	135				
LYST	1130	broad.mit.edu	37	1	235969487	235969487	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969487C>T	ENST00000389794.3	-	6	3123	c.2949G>A	c.(2947-2949)agG>agA	p.R983R	LYST_ENST00000389793.2_Silent_p.R983R|LYST_ENST00000536965.1_Silent_p.R983R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	983					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACCACCAAGCCTATAAAACT	0.398																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2947-2949)agG>agA		lysosomal trafficking regulator							78.0	81.0	80.0					1																	235969487		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969487C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2949G>A	1.37:g.235969487C>T						LYST_ENST00000389793.2_Silent_p.R983R|LYST_ENST00000536965.1_Silent_p.R983R	p.R983R			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3123	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	983					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.2949G>A	CCDS31062.1																																																																																				0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			27	50	0	0	0	1	0	27	50				
FRMD6	122786	broad.mit.edu	37	14	52194543	52194543	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194543C>T	ENST00000344768.5	+	14	1861	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	FRMD6_ENST00000356218.4_Silent_p.F547F|FRMD6_ENST00000395718.2_Silent_p.F547F|FRMD6_ENST00000554167.1_Silent_p.F478F|FRMD6_ENST00000553556.1_Silent_p.F197F			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	555					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAAAGACTTCCTGCGCATTG	0.488																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1639-1641)ttC>ttT		FERM domain containing 6							152.0	125.0	134.0					14																	52194543		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52194543C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1665C>T	14.37:g.52194543C>T						FRMD6_ENST00000344768.5_Silent_p.F555F|FRMD6_ENST00000554167.1_Silent_p.F478F|FRMD6_ENST00000553556.1_Silent_p.F197F|FRMD6_ENST00000356218.4_Silent_p.F547F	p.F547F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			14	1926	+	all_epithelial(31;0.0163)|Breast(41;0.089)		555					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.1641C>T	CCDS58318.1																																																																																				0.488	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		32	70	0	0	0	1	0	32	70				
ZNF2	7549	broad.mit.edu	37	2	95843352	95843352	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95843352T>C	ENST00000340539.5	+	3	620	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ZNF2_ENST00000453539.2_Missense_Mutation_p.L53S|ZNF2_ENST00000398107.2_Missense_Mutation_p.L11S|ZNF2_ENST00000425369.1_Missense_Mutation_p.L11S|ZNF2_ENST00000295210.6_Missense_Mutation_p.L53S	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTGTGTCATTGGGTAAGGGG	0.517																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(31-33)tTg>tCg		zinc finger protein 2							126.0	127.0	127.0					2																	95843352		2043	4197	6240	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95843352T>C	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.158T>C	2.37:g.95843352T>C	ENSP00000345392:p.Leu53Ser					ZNF2_ENST00000425369.1_Missense_Mutation_p.L11S|ZNF2_ENST00000295210.6_Missense_Mutation_p.L53S|ZNF2_ENST00000453539.2_Missense_Mutation_p.L53S|ZNF2_ENST00000340539.5_Missense_Mutation_p.L53S	p.L11S	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	2	554	+		Ovarian(717;0.00768)	53	MAAVSPTTRCQ -> RGAVFPGPEHSVPE (in Ref. 3; CAB52138).				A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.32T>C	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521874	0.44866	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.07688	5.3;4.21;3.17;4.21;4.21	5.35	5.35	0.76521	Krueppel-associated box (4);	0.000000	0.37669	N	0.001993	T	0.35098	0.0920	M	0.89601	3.045	0.33180	D	0.549431	D;P;D	0.89917	1.0;0.804;1.0	D;B;D	0.91635	0.999;0.43;0.999	T	0.57877	-0.7735	10	0.59425	D	0.04	-11.9725	13.3152	0.60403	0.0:0.0:0.0:1.0	.	53;11;53	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	S	11;53;11;53;53	ENSP00000381178:L11S;ENSP00000345392:L53S;ENSP00000406017:L11S;ENSP00000295210:L53S;ENSP00000411051:L53S	ENSP00000295210:L53S	L	+	2	0	ZNF2	95207079	1.000000	0.71417	0.849000	0.33467	0.016000	0.09150	4.965000	0.63708	2.234000	0.73211	0.496000	0.49642	TTG		0.517	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		36	43	0	0	0	1	0	36	43				
EPB42	2038	broad.mit.edu	37	15	43503647	43503647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43503647G>A	ENST00000441366.2	-	4	741	c.516C>T	c.(514-516)gaC>gaT	p.D172D	EPB42_ENST00000540029.1_Silent_p.D94D|EPB42_ENST00000300215.3_Silent_p.D202D	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	172					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCTGGATGCAGTCAGCTGTAC	0.547																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(604-606)gaC>gaT		erythrocyte membrane protein band 4.2							141.0	116.0	125.0					15																	43503647		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43503647G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.516C>T	15.37:g.43503647G>A						EPB42_ENST00000540029.1_Silent_p.D94D|EPB42_ENST00000441366.2_Silent_p.D172D	p.D202D			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	4	1063	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	172					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.606C>T	CCDS45249.1																																																																																				0.547	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		6	75	0	0	0	1	0	6	75				
SAP130	79595	broad.mit.edu	37	2	128757937	128757937	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128757937G>T	ENST00000259235.3	-	8	1168	c.1039C>A	c.(1039-1041)Cta>Ata	p.L347I	SAP130_ENST00000357702.5_Missense_Mutation_p.L347I|SAP130_ENST00000259234.6_Missense_Mutation_p.L321I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	347					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGAGATGGTAGTGTGATTCTT	0.473																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1039-1041)Cta>Ata		Sin3A-associated protein, 130kDa							331.0	290.0	304.0					2																	128757937		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757937G>T	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1039C>A	2.37:g.128757937G>T	ENSP00000259235:p.Leu347Ile					SAP130_ENST00000259235.3_Missense_Mutation_p.L347I|SAP130_ENST00000259234.6_Missense_Mutation_p.L321I	p.L347I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	8	1170	-	Colorectal(110;0.1)		347					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1039C>A	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459762	0.63401	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.68	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.29908	0.895	0.49389	D	0.999781	D;P;D	0.71674	0.998;0.747;0.961	D;B;P	0.83275	0.996;0.397;0.689	T	0.58200	-0.7678	9	0.37606	T	0.19	-16.5975	11.3829	0.49768	0.168:0.0:0.832:0.0	.	347;320;347	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	I	347;347;321	.	ENSP00000259234:L321I	L	-	1	2	SAP130	128474407	1.000000	0.71417	0.643000	0.29450	0.996000	0.88848	4.228000	0.58619	2.672000	0.90937	0.650000	0.86243	CTA		0.473	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		6	71	1	0	0.0381472	1	0.0390147	6	71				
NLRP8	126205	broad.mit.edu	37	19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498																																						ENST00000291971.3																			1	Substitution - Missense(1)	p.V428I(1)	kidney(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1282-1284)Gtc>Atc		NLR family, pyrin domain containing 8							88.0	90.0	90.0					19																	56466706		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466706G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1282G>A	19.37:g.56466706G>A	ENSP00000291971:p.Val428Ile					NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1353	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	428			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1282G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.360	-0.346884	0.05208	.	.	ENSG00000179709	ENST00000291971	D	0.83419	-1.72	1.78	-1.96	0.07525	.	.	.	.	.	T	0.63628	0.2527	L	0.27053	0.805	0.09310	N	1	P;P	0.47762	0.9;0.573	B;B	0.35278	0.199;0.177	T	0.56553	-0.7960	9	0.29301	T	0.29	.	5.2449	0.15490	0.6082:0.0:0.3918:0.0	.	428;428	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	428	ENSP00000291971:V428I	ENSP00000291971:V428I	V	+	1	0	NLRP8	61158518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.089000	0.15002	-0.472000	0.06881	-0.346000	0.07831	GTC		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		6	79	0	0	0	1	0	6	79				
SLFN11	91607	broad.mit.edu	37	17	33690097	33690097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33690097C>A	ENST00000394566.1	-	4	1002	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	SLFN11_ENST00000308377.4_Missense_Mutation_p.G244C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	244					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAAGATAGCCTCCTCCAGTG	0.388																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(730-732)Ggc>Tgc		schlafen family member 11							157.0	162.0	160.0					17																	33690097		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690097C>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.730G>T	17.37:g.33690097C>A	ENSP00000378067:p.Gly244Cys					SLFN11_ENST00000308377.4_Missense_Mutation_p.G244C	p.G244C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1002	-		Ovarian(249;0.17)	244					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.730G>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654551	0.67472	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.71817	-0.6;-0.6	4.33	4.33	0.51752	.	0.000000	0.39687	N	0.001291	D	0.88411	0.6429	H	0.96691	3.865	0.33539	D	0.594687	D	0.89917	1.0	D	0.97110	1.0	D	0.93428	0.6783	10	0.87932	D	0	.	12.222	0.54439	0.0:1.0:0.0:0.0	.	244	Q7Z7L1	SLN11_HUMAN	C	244	ENSP00000312402:G244C;ENSP00000378067:G244C	ENSP00000312402:G244C	G	-	1	0	SLFN11	30714210	0.960000	0.32886	0.991000	0.47740	0.120000	0.20174	4.884000	0.63135	2.248000	0.74166	0.655000	0.94253	GGC		0.388	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		63	120	1	0	1.95512e-22	1	2.5808e-22	63	120				
ANO8	57719	broad.mit.edu	37	19	17441161	17441161	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17441161C>T	ENST00000159087.4	-	9	1304	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	382	Leu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGGGGTCACCTGCAGCTGGA	0.642																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.e9+1		anoctamin 8							24.0	24.0	24.0					19																	17441161		2199	4298	6497	SO:0001630	splice_region_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17441161C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1146+1G>A	19.37:g.17441161C>T							p.Q382_splice	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			9	1304	-			382			Leu-rich.		A6NIJ0	Splice_Site	SNP	ENST00000159087.4	37	c.1146_splice	CCDS32949.1																																																																																				0.642	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644	Silent	8	6	0	0	0	1	0	8	6				
FAM214B	80256	broad.mit.edu	37	9	35106301	35106301	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35106301A>G	ENST00000378561.1	-	5	4221	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A	FAM214B_ENST00000603301.1_Missense_Mutation_p.V389A|FAM214B_ENST00000378566.1_Missense_Mutation_p.V84A|FAM214B_ENST00000378554.2_Missense_Mutation_p.V389A|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000488109.2_Missense_Mutation_p.V389A|FAM214B_ENST00000605244.1_Missense_Mutation_p.V389A|FAM214B_ENST00000378557.1_Missense_Mutation_p.V389A|FAM214B_ENST00000322813.5_Missense_Mutation_p.V389A			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	389						nucleus (GO:0005634)											TGTGACAGTGACAGGCAGCGT	0.532																																						ENST00000378561.1																			0											c.(1165-1167)gTc>gCc		family with sequence similarity 214, member B							102.0	97.0	98.0					9																	35106301		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35106301A>G	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1166T>C	9.37:g.35106301A>G	ENSP00000367823:p.Val389Ala					FAM214B_ENST00000488109.2_Missense_Mutation_p.V389A|FAM214B_ENST00000605244.1_Missense_Mutation_p.V389A|FAM214B_ENST00000603301.1_Missense_Mutation_p.V389A|FAM214B_ENST00000378566.1_Missense_Mutation_p.V84A|FAM214B_ENST00000378557.1_Missense_Mutation_p.V389A|FAM214B_ENST00000378554.2_Missense_Mutation_p.V389A|FAM214B_ENST00000322813.5_Missense_Mutation_p.V389A	p.V389A			Q7L5A3	K1539_HUMAN			5	4221	-			389					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.1166T>C	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.825077	0.71143	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61337	-0.7083	9	0.23302	T	0.38	-21.5228	15.2318	0.73395	1.0:0.0:0.0:0.0	.	389	Q7L5A3	K1539_HUMAN	A	84;389;389;389;389	.	ENSP00000319897:V389A	V	-	2	0	KIAA1539	35096301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.600000	0.90860	2.269000	0.75478	0.533000	0.62120	GTC		0.532	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		13	34	0	0	0	1	0	13	34				
CD4	920	broad.mit.edu	37	12	6909495	6909495	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6909495G>T	ENST00000011653.4	+	3	330	c.72G>T	c.(70-72)caG>caT	p.Q24H	CD4_ENST00000541982.1_Intron|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	24					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CAGCCACTCAGGGAAAGAAAG	0.522																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(70-72)caG>caT		CD4 molecule							49.0	54.0	52.0					12																	6909495		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6909495G>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.72G>T	12.37:g.6909495G>T	ENSP00000011653:p.Gln24His					CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Intron	p.Q24H	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			3	330	+		Myeloproliferative disorder(1001;0.0122)	24					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.72G>T	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.068120	0.20067	.	.	ENSG00000010610	ENST00000011653;ENST00000539492	T	0.69806	-0.43	4.65	0.469	0.16741	Immunoglobulin V-set (1);Immunoglobulin-like (1);	1.379590	0.04586	N	0.395933	T	0.53562	0.1804	L	0.39397	1.21	0.23095	N	0.998303	B	0.10296	0.003	B	0.15484	0.013	T	0.29366	-1.0014	10	0.35671	T	0.21	-2.4138	1.6092	0.02690	0.2026:0.1562:0.4636:0.1776	.	24	P01730	CD4_HUMAN	H	24	ENSP00000011653:Q24H	ENSP00000011653:Q24H	Q	+	3	2	CD4	6779756	0.001000	0.12720	0.008000	0.14137	0.011000	0.07611	-0.130000	0.10498	0.102000	0.17638	-0.467000	0.05162	CAG		0.522	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		17	25	1	0	3.57192e-18	1	4.65187e-18	17	25				
RASD2	23551	broad.mit.edu	37	22	35948047	35948047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35948047G>A	ENST00000216127.4	+	3	1411	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	257					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGAAGGCCAGGCCCGTGAGAG	0.657																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(769-771)Gcc>Acc		RASD family, member 2							49.0	47.0	48.0					22																	35948047		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35948047G>A	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.769G>A	22.37:g.35948047G>A	ENSP00000216127:p.Ala257Thr						p.A257T	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1411	+			257					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.769G>A	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601330	0.46423	.	.	ENSG00000100302	ENST00000216127	T	0.71934	-0.61	5.68	5.68	0.88126	.	0.277353	0.40469	N	0.001089	T	0.51975	0.1706	N	0.17082	0.46	0.30427	N	0.777577	B	0.02656	0.0	B	0.06405	0.002	T	0.48068	-0.9067	10	0.28530	T	0.3	.	9.5242	0.39154	0.0746:0.0:0.7724:0.153	.	257	Q96D21	RHES_HUMAN	T	257	ENSP00000216127:A257T	ENSP00000216127:A257T	A	+	1	0	RASD2	34277993	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.410000	0.44592	2.705000	0.92388	0.556000	0.70494	GCC		0.657	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		21	40	0	0	0	1	0	21	40				
SGCD	6444	broad.mit.edu	37	5	156186309	156186309	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156186309T>G	ENST00000435422.3	+	8	1265	c.778T>G	c.(778-780)Ttc>Gtc	p.F260V	SGCD_ENST00000337851.4_Missense_Mutation_p.F261V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGAAGGTCTTCGAGATCTG	0.483																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(778-780)Ttc>Gtc		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							131.0	126.0	127.0					5																	156186309		1970	4176	6146	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186309T>G	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.778T>G	5.37:g.156186309T>G	ENSP00000403003:p.Phe260Val					SGCD_ENST00000337851.4_Missense_Mutation_p.F261V	p.F260V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1265	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	260					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.778T>G	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677460	0.88445	.	.	ENSG00000170624	ENST00000435422;ENST00000337851	D;D	0.95272	-3.66;-3.66	4.93	4.93	0.64822	.	0.175453	0.51477	D	0.000084	D	0.92394	0.7586	L	0.52573	1.65	0.80722	D	1	B;B	0.20887	0.049;0.039	B;B	0.22152	0.038;0.023	D	0.90586	0.4533	10	0.87932	D	0	-13.4006	14.8886	0.70590	0.0:0.0:0.0:1.0	.	260;261	Q92629;Q92629-2	SGCD_HUMAN;.	V	260;261	ENSP00000403003:F260V;ENSP00000338343:F261V	ENSP00000338343:F261V	F	+	1	0	SGCD	156118887	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.544000	0.82117	1.981000	0.57761	0.533000	0.62120	TTC		0.483	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			36	64	0	0	0	1	0	36	64				
NUFIP1	26747	broad.mit.edu	37	13	45533519	45533519	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533519A>G	ENST00000379161.4	-	7	1064	c.1018T>C	c.(1018-1020)Tct>Cct	p.S340P		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	340					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGCTTACCAGAATCACTGTTT	0.393																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(1018-1020)Tct>Cct		nuclear fragile X mental retardation protein interacting protein 1							139.0	127.0	131.0					13																	45533519		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45533519A>G	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1018T>C	13.37:g.45533519A>G	ENSP00000368459:p.Ser340Pro						p.S340P	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	7	1064	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	340					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1018T>C	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187836	0.57909	.	.	ENSG00000083635	ENST00000379161	T	0.48201	0.82	5.11	3.9	0.45041	.	0.447214	0.25094	N	0.033187	T	0.52837	0.1759	L	0.52573	1.65	0.53005	D	0.999961	D	0.69078	0.997	P	0.60789	0.879	T	0.45833	-0.9234	10	0.25106	T	0.35	.	8.2981	0.31997	0.739:0.261:0.0:0.0	.	340	Q9UHK0	NUFP1_HUMAN	P	340	ENSP00000368459:S340P	ENSP00000368459:S340P	S	-	1	0	NUFIP1	44431519	0.991000	0.36638	0.993000	0.49108	0.984000	0.73092	2.995000	0.49441	2.047000	0.60756	0.519000	0.50382	TCT		0.393	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		6	61	0	0	0	1	0	6	61				
CFH	3075	broad.mit.edu	37	1	196659281	196659281	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659281C>T	ENST00000359637.2	+	8	1118	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C	CFH_ENST00000367429.4_Silent_p.C416C|CFH_ENST00000439155.2_Silent_p.C416C			P08603	CFAH_HUMAN	complement factor H	416	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGTTGCCTGCCATCCTGGCT	0.413																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1246-1248)tgC>tgT		complement factor H							98.0	84.0	89.0					1																	196659281		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659281C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1056C>T	1.37:g.196659281C>T						CFH_ENST00000439155.2_Silent_p.C416C|CFH_ENST00000359637.2_Silent_p.C352C	p.C416C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			9	1488	+			416			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37	c.1248C>T																																																																																					0.413	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		29	25	0	0	0	1	0	29	25				
FBN2	2201	broad.mit.edu	37	5	127641519	127641519	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127641519A>G	ENST00000508053.1	-	49	6518	c.5544T>C	c.(5542-5544)tgT>tgC	p.C1848C	FBN2_ENST00000262464.4_Silent_p.C1848C			P35556	FBN2_HUMAN	fibrillin 2	1848	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATTACCTTCACAAACCAACA	0.358																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5542-5544)tgT>tgC		fibrillin 2							115.0	111.0	113.0					5																	127641519		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127641519A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5544T>C	5.37:g.127641519A>G						FBN2_ENST00000262464.4_Silent_p.C1848C	p.C1848C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	49	6518	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1848			EGF-like 29; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.5544T>C	CCDS34222.1																																																																																				0.358	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	93	0	0	0	1	0	9	93				
ARR3	407	broad.mit.edu	37	X	69495966	69495966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69495966C>T	ENST00000307959.8	+	6	231	c.180C>T	c.(178-180)ggC>ggT	p.G60G	ARR3_ENST00000374495.3_Silent_p.G60G	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	60					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTCGCTATGGCCGTGATGACT	0.542																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(178-180)ggC>ggT		arrestin 3, retinal (X-arrestin)							132.0	84.0	100.0					X																	69495966		2203	4300	6503	SO:0001819	synonymous_variant	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69495966C>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.180C>T	X.37:g.69495966C>T						ARR3_ENST00000307959.8_Silent_p.G60G	p.G60G			P36575	ARRC_HUMAN			6	278	+			60					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	c.180C>T	CCDS14399.1																																																																																				0.542	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		16	24	0	0	0	1	0	16	24				
SFI1	9814	broad.mit.edu	37	22	31976257	31976257	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31976257G>A	ENST00000400288.2	+	12	1260		c.e12-1		SFI1_ENST00000540643.1_Intron|SFI1_ENST00000443326.1_Splice_Site|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400289.1_Splice_Site|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCTTTGCACAGTATTTTTGCT	0.468																																						ENST00000443326.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.e10-1		Sfi1 homolog, spindle assembly associated (yeast)							115.0	108.0	110.0					22																	31976257		2007	4176	6183	SO:0001630	splice_region_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31976257G>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1156-1G>A	22.37:g.31976257G>A						SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000400289.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000414585.1_Splice_Site		NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN			10	1302	+								A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Splice_Site	SNP	ENST00000400288.2	37		CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751982	0.49362	.	.	ENSG00000198089	ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8855	0.79244	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SFI1	30306257	0.995000	0.38212	0.152000	0.22495	0.384000	0.30261	5.094000	0.64523	2.825000	0.97269	0.655000	0.94253	.		0.468	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	Intron	13	15	0	0	0	1	0	13	15				
RIPK4	54101	broad.mit.edu	37	21	43161513	43161513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161513G>A	ENST00000352483.2	-	9	2048	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	RIPK4_ENST00000544709.1_Missense_Mutation_p.R551C|RIPK4_ENST00000542057.1_Missense_Mutation_p.R551C|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.R614C			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	662					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCCCGCGCTGTGCGGCC	0.687																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1984-1986)Cgc>Tgc		receptor-interacting serine-threonine kinase 4							59.0	59.0	59.0					21																	43161513		2202	4298	6500	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161513G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1984C>T	21.37:g.43161513G>A	ENSP00000330161:p.Arg662Cys					RIPK4_ENST00000542057.1_Missense_Mutation_p.R551C|RIPK4_ENST00000332512.3_Missense_Mutation_p.R614C|RIPK4_ENST00000544709.1_Missense_Mutation_p.R551C	p.R662C			Q96T11	Q96T11_HUMAN			9	2048	-			614					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1984C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.763802|2.763802	0.49574|0.49574	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|T;T;T;T	.|0.66815	.|-0.14;-0.23;2.35;2.35	4.98|4.98	4.07|4.07	0.47477|0.47477	.|.	.|0.000000	.|0.56097	.|D	.|0.000033	T|T	0.75503|0.75503	0.3858|0.3858	L|L	0.49256|0.49256	1.55|1.55	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.75545|0.75545	-0.3280|-0.3280	6|10	0.87932|0.54805	D|T	0|0.06	-34.9755|-34.9755	11.4753|11.4753	0.50295|0.50295	0.0:0.0:0.6619:0.3381|0.0:0.0:0.6619:0.3381	.|.	.|614	.|P57078-2	.|.	V|C	350|614;662;551;551	.|ENSP00000332454:R614C;ENSP00000330161:R662C;ENSP00000441754:R551C;ENSP00000442901:R551C	ENSP00000330975:A350V|ENSP00000332454:R614C	A|R	-|-	2|1	0|0	RIPK4|RIPK4	42034582|42034582	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.443000|0.443000	0.32047|0.32047	3.095000|3.095000	0.50235|0.50235	1.021000|1.021000	0.39600|0.39600	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.687	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		35	58	0	0	0	1	0	35	58				
RYR2	6262	broad.mit.edu	37	1	237619941	237619941	+	Silent	SNP	C	C	T	rs372620246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237619941C>T	ENST00000366574.2	+	16	1835	c.1518C>T	c.(1516-1518)caC>caT	p.H506H	RYR2_ENST00000360064.6_Silent_p.H504H|RYR2_ENST00000542537.1_Silent_p.H490H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	506					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H504Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGTTTGCACGTCTACAGCA	0.433																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.H504Q(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1516-1518)caC>caT		ryanodine receptor 2 (cardiac)		C		0,3874		0,0,1937	161.0	154.0	157.0		1518	-7.6	0.1	1		157	1,8283		0,1,4141	no	coding-synonymous	RYR2	NM_001035.2		0,1,6078	TT,TC,CC		0.0121,0.0,0.0082		506/4968	237619941	1,12157	1937	4142	6079	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237619941C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1518C>T	1.37:g.237619941C>T						RYR2_ENST00000542537.1_Silent_p.H490H|RYR2_ENST00000360064.6_Silent_p.H504H	p.H506H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1835	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	506					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1518C>T	CCDS55691.1																																																																																				0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	111	0	0	0	1	0	5	111				
GLI1	2735	broad.mit.edu	37	12	57861780	57861780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57861780C>T	ENST00000228682.2	+	10	1172	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	GLI1_ENST00000546141.1_Missense_Mutation_p.P320S|GLI1_ENST00000543426.1_Missense_Mutation_p.P233S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	361					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCAACAGAAGCCGTATGTATG	0.517																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1081-1083)Ccg>Tcg		GLI family zinc finger 1							64.0	49.0	54.0					12																	57861780		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861780C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1081C>T	12.37:g.57861780C>T	ENSP00000228682:p.Pro361Ser					GLI1_ENST00000546141.1_Missense_Mutation_p.P320S|GLI1_ENST00000543426.1_Missense_Mutation_p.P233S	p.P361S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1172	+			361					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1081C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575093	0.65878	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	4.38	4.38	0.52667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000101	T	0.13586	0.0329	M	0.67700	2.07	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.00380	-1.1776	10	0.87932	D	0	.	16.2413	0.82409	0.0:1.0:0.0:0.0	.	361	P08151	GLI1_HUMAN	S	233;361;320;320;233	ENSP00000437607:P233S;ENSP00000228682:P361S;ENSP00000441006:P320S;ENSP00000434408:P320S	ENSP00000228682:P361S	P	+	1	0	GLI1	56148047	1.000000	0.71417	0.997000	0.53966	0.263000	0.26337	7.604000	0.82830	2.440000	0.82611	0.561000	0.74099	CCG		0.517	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		9	21	0	0	0	1	0	9	21				
UBR4	23352	broad.mit.edu	37	1	19443764	19443764	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19443764G>T	ENST00000375254.3	-	73	10801	c.10774C>A	c.(10774-10776)Ctg>Atg	p.L3592M	UBR4_ENST00000375218.3_Missense_Mutation_p.L7M|UBR4_ENST00000375226.2_Missense_Mutation_p.L3568M|UBR4_ENST00000375267.2_Missense_Mutation_p.L3592M|UBR4_ENST00000375217.2_Missense_Mutation_p.L3585M	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3592					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTATAATACAGGTTGATGGTC	0.517																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(10774-10776)Ctg>Atg		ubiquitin protein ligase E3 component n-recognin 4							207.0	183.0	191.0					1																	19443764		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19443764G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10774C>A	1.37:g.19443764G>T	ENSP00000364403:p.Leu3592Met					UBR4_ENST00000375254.3_Missense_Mutation_p.L3592M|UBR4_ENST00000375217.2_Missense_Mutation_p.L3585M|UBR4_ENST00000375226.2_Missense_Mutation_p.L3568M|UBR4_ENST00000375218.3_Missense_Mutation_p.L7M	p.L3592M			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	73	10777	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3592					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10774C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776741	0.70107	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.46073	0.1374	L	0.34521	1.04	0.80722	D	1	B;D	0.65815	0.141;0.995	B;D	0.70487	0.065;0.969	T	0.35076	-0.9803	10	0.52906	T	0.07	.	17.9829	0.89147	0.0:0.0:1.0:0.0	.	7;3592	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	M	3592;3592;3585;3568;7	ENSP00000364403:L3592M;ENSP00000364416:L3592M;ENSP00000364365:L3585M;ENSP00000364374:L3568M	ENSP00000364365:L3585M	L	-	1	2	UBR4	19316351	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.639000	0.83342	2.581000	0.87130	0.655000	0.94253	CTG		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		38	84	1	0	3.38236e-24	1	4.48518e-24	38	84				
OTUD3	23252	broad.mit.edu	37	1	20231450	20231450	+	Missense_Mutation	SNP	G	G	A	rs200790645		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20231450G>A	ENST00000375120.3	+	6	806	c.805G>A	c.(805-807)Gtg>Atg	p.V269M		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	269	UBA-like.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATTGCCGTGCTTCGGAT	0.299																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(805-807)Gtg>Atg		OTU domain containing 3							71.0	72.0	72.0					1																	20231450		1807	4066	5873	SO:0001583	missense	23252							g.chr1:20231450G>A	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.805G>A	1.37:g.20231450G>A	ENSP00000364261:p.Val269Met						p.V269M	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	806	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	269					O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.805G>A	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	A	5.032	0.191518	0.09547	.	.	ENSG00000169914	ENST00000375120	T	0.22945	1.93	5.74	3.38	0.38709	.	0.623349	0.18026	N	0.154097	T	0.08403	0.0209	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34976	-0.9807	10	0.20046	T	0.44	.	5.5029	0.16838	0.6932:0.1518:0.155:0.0	.	269	Q5T2D3	OTUD3_HUMAN	M	269	ENSP00000364261:V269M	ENSP00000364261:V269M	V	+	1	0	OTUD3	20104037	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.690000	0.25451	0.166000	0.19597	-0.269000	0.10298	GTG		0.299	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			23	55	0	0	0	1	0	23	55				
FAM228A	653140	broad.mit.edu	37	2	24406370	24406370	+	Missense_Mutation	SNP	G	G	A	rs374795794		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24406370G>A	ENST00000295150.3	+	5	343	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	86																	GTAGGAAAACGACATTCCATA	0.418																																						ENST00000295150.3																			0											c.(256-258)cGa>cAa		family with sequence similarity 228, member A							67.0	61.0	63.0					2																	24406370		1858	4104	5962	SO:0001583	missense	653140							g.chr2:24406370G>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.257G>A	2.37:g.24406370G>A	ENSP00000295150:p.Arg86Gln					RP11-507M3.1_ENST00000584973.1_3'UTR	p.R86Q	NM_001040710.1	NP_001035800.1					5	343	+									Missense_Mutation	SNP	ENST00000295150.3	37	c.257G>A	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.712|9.712	1.157402|1.157402	0.21454|0.21454	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000432434|ENST00000295150	.|T	.|0.40476	.|1.03	4.47|4.47	-6.64|-6.64	0.01801|0.01801	.|.	.|1.974420	.|0.02451	.|N	.|0.085579	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.47981	.|0.563	T|T	0.15435|0.15435	-1.0437|-1.0437	5|10	.|0.22109	.|T	.|0.4	0.0149|0.0149	3.9958|3.9958	0.09558|0.09558	0.5735:0.118:0.1887:0.1198|0.5735:0.118:0.1887:0.1198	.|.	.|86	.|Q86W67	.|CB084_HUMAN	N|Q	124|86	.|ENSP00000295150:R86Q	.|ENSP00000295150:R86Q	D|R	+|+	1|2	0|0	C2orf84|C2orf84	24259874|24259874	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-4.248000|-4.248000	0.00266|0.00266	-1.362000|-1.362000	0.02166|0.02166	-1.031000|-1.031000	0.02408|0.02408	GAC|CGA		0.418	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		10	18	0	0	0	1	0	10	18				
NELL1	4745	broad.mit.edu	37	11	20699541	20699541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20699541A>G	ENST00000357134.5	+	2	271	c.119A>G	c.(118-120)aAc>aGc	p.N40S	NELL1_ENST00000298925.5_Missense_Mutation_p.N68S|NELL1_ENST00000532434.1_Missense_Mutation_p.N40S|NELL1_ENST00000325319.5_Missense_Mutation_p.N40S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	40					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GACCTTGTGAACACCACCCTT	0.488																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(202-204)aAc>aGc		NEL-like 1 (chicken)							178.0	162.0	167.0					11																	20699541		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20699541A>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.119A>G	11.37:g.20699541A>G	ENSP00000349654:p.Asn40Ser					NELL1_ENST00000325319.5_Missense_Mutation_p.N40S|NELL1_ENST00000357134.5_Missense_Mutation_p.N40S|NELL1_ENST00000532434.1_Missense_Mutation_p.N40S	p.N68S			Q92832	NELL1_HUMAN			3	356	+			40					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.203A>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377605	0.82682	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.02177	4.41;4.41;4.41;4.41	6.11	6.11	0.99139	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	M	0.64997	1.995	0.43207	D	0.995066	D;D;P;D	0.71674	0.998;0.997;0.73;0.997	D;D;B;D	0.76071	0.987;0.97;0.391;0.97	T	0.00822	-1.1552	10	0.49607	T	0.09	-26.6527	15.6847	0.77400	1.0:0.0:0.0:0.0	.	40;68;40;40	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	S	68;40;40;40	ENSP00000298925:N68S;ENSP00000349654:N40S;ENSP00000317837:N40S;ENSP00000437170:N40S	ENSP00000298925:N68S	N	+	2	0	NELL1	20656117	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	7.496000	0.81526	2.343000	0.79666	0.533000	0.62120	AAC		0.488	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		28	58	0	0	0	1	0	28	58				
OR1Q1	158131	broad.mit.edu	37	9	125377139	125377139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125377139C>T	ENST00000297913.2	+	1	192	c.123C>T	c.(121-123)ggC>ggT	p.G41G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	41					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ATATTTCTGGCAACTTGGCCA	0.478																																						ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(121-123)ggC>ggT		olfactory receptor, family 1, subfamily Q, member 1							252.0	224.0	234.0					9																	125377139		2203	4300	6503	SO:0001819	synonymous_variant	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377139C>T		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.123C>T	9.37:g.125377139C>T						RP11-64P14.7_ENST00000431442.1_RNA	p.G41G	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	192	+			41					Q6IFN4|Q8NGR7|Q96R82	Silent	SNP	ENST00000297913.2	37	c.123C>T	CCDS35125.1																																																																																				0.478	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			10	121	0	0	0	1	0	10	121				
FBXO6	26270	broad.mit.edu	37	1	11733805	11733805	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733805A>C	ENST00000376753.4	+	6	914	c.779A>C	c.(778-780)aAg>aCg	p.K260T		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	260					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGCCCCAAGATGACCAGG	0.617																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(778-780)aAg>aCg		F-box protein 6							90.0	85.0	87.0					1																	11733805		2203	4300	6503	SO:0001583	missense	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733805A>C	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.779A>C	1.37:g.11733805A>C	ENSP00000365944:p.Lys260Thr						p.K260T	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	914	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	260					B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	c.779A>C	CCDS133.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459607	0.26248	.	.	ENSG00000116663	ENST00000376753	T	0.24350	1.86	5.45	-1.24	0.09435	.	0.670993	0.15542	N	0.256900	T	0.11281	0.0275	N	0.19112	0.55	0.09310	N	1	P	0.40000	0.698	B	0.36134	0.218	T	0.23084	-1.0198	10	0.25106	T	0.35	.	4.594	0.12320	0.4332:0.3021:0.2647:0.0	.	260	Q9NRD1	FBX6_HUMAN	T	260	ENSP00000365944:K260T	ENSP00000365944:K260T	K	+	2	0	FBXO6	11656392	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.356000	0.07661	-0.486000	0.06744	0.459000	0.35465	AAG		0.617	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		22	30	0	0	0	1	0	22	30				
AVIL	10677	broad.mit.edu	37	12	58201119	58201119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201119A>G	ENST00000257861.3	-	12	1916	c.1486T>C	c.(1486-1488)Ttt>Ctt	p.F496L	RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'Flank|TSFM_ENST00000548851.1_Intron|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000537081.1_Missense_Mutation_p.F489L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	496	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCACCTCAAAGATAACTAGC	0.517																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1465-1467)Ttt>Ctt		advillin							143.0	132.0	136.0					12																	58201119		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58201119A>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1486T>C	12.37:g.58201119A>G	ENSP00000257861:p.Phe496Leu					TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.F496L	p.F489L			O75366	AVIL_HUMAN			12	1464	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		496			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1465T>C	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684906	0.68157	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.15372	2.43;2.43	4.55	4.55	0.56014	.	0.112315	0.64402	D	0.000007	T	0.19046	0.0457	L	0.48362	1.52	0.45747	D	0.998647	B;B	0.22346	0.019;0.068	B;B	0.28991	0.062;0.097	T	0.03773	-1.1005	10	0.56958	D	0.05	-3.7068	13.2745	0.60180	1.0:0.0:0.0:0.0	.	489;496	O75366-2;O75366	.;AVIL_HUMAN	L	489;496	ENSP00000443207:F489L;ENSP00000257861:F496L	ENSP00000257861:F496L	F	-	1	0	AVIL	56487386	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.010000	0.93611	2.029000	0.59856	0.459000	0.35465	TTT		0.517	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		13	101	0	0	0	1	0	13	101				
TRAF4	9618	broad.mit.edu	37	17	27076339	27076339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27076339T>C	ENST00000262395.5	+	7	1286	c.1157T>C	c.(1156-1158)gTc>gCc	p.V386A	TRAF4_ENST00000262396.6_Intron|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Splice_Site|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	386	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCGCCGTGTCACCTTCTCC	0.567																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1156-1158)gTc>gCc		TNF receptor-associated factor 4							75.0	65.0	68.0					17																	27076339		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076339T>C	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1157T>C	17.37:g.27076339T>C	ENSP00000262395:p.Val386Ala					TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Splice_Site	p.V386A	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	1286	+	Lung NSC(42;0.01)		386			MATH.		O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.1157T>C	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753688	0.69648	.	.	ENSG00000076604	ENST00000262395;ENST00000444415;ENST00000394924;ENST00000394925	T	0.30714	1.52	5.99	5.99	0.97316	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	L	0.58925	1.835	0.80722	D	1	D	0.55605	0.972	P	0.56563	0.801	T	0.46569	-0.9182	10	0.87932	D	0	.	15.6704	0.77270	0.0:0.0:0.0:1.0	.	386	Q9BUZ4	TRAF4_HUMAN	A	386;386;83;60	ENSP00000262395:V386A	ENSP00000262395:V386A	V	+	2	0	TRAF4	24100466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.458000	0.80787	2.296000	0.77279	0.533000	0.62120	GTC		0.567	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		14	23	0	0	0	1	0	14	23				
PDE4D	5144	broad.mit.edu	37	5	59064130	59064130	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064130C>A	ENST00000340635.6	-	1	631				PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.R69I|PDE4D_ENST00000507116.1_Missense_Mutation_p.R69I|PDE4D_ENST00000502484.2_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAGAAGCATTCTGCGCAGAAG	0.537																																						ENST00000507116.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(205-207)aGa>aTa		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						222.0	205.0	210.0					5																	59064130		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59064130C>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+124864G>T	5.37:g.59064130C>A						PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.R69I	p.R69I	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	341	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0			Pro-rich.		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.206G>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405892	0.83230	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;D	0.82433	-0.43;-1.61	5.36	4.5	0.54988	.	.	.	.	.	D	0.89598	0.6761	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.71870	0.975;0.975	D	0.89130	0.3509	8	0.39692	T	0.17	.	13.8366	0.63413	0.0:0.9262:0.0:0.0738	.	69;69	Q08499-12;Q08499-6	.;.	I	69	ENSP00000424852:R69I;ENSP00000425917:R69I	ENSP00000308485:R69I	R	-	2	0	PDE4D	59099887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.586000	0.67503	1.497000	0.48584	0.655000	0.94253	AGA		0.537	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			56	73	1	0	1.98717e-13	1	2.52046e-13	56	73				
G6PD	2539	broad.mit.edu	37	X	153774302	153774302	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153774302G>A	ENST00000393564.2	-	2	181	c.69C>T	c.(67-69)ggC>ggT	p.G23G	IKBKG_ENST00000369606.4_5'Flank|IKBKG_ENST00000369609.5_Intron|G6PD_ENST00000393562.2_Silent_p.G53G|IKBKG_ENST00000263518.6_5'Flank|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Silent_p.G23G|IKBKG_ENST00000369602.3_5'Flank|IKBKG_ENST00000455588.2_5'Flank|IKBKG_ENST00000369601.3_5'Flank|IKBKG_ENST00000470142.1_5'Flank|IKBKG_ENST00000393549.2_5'Flank|IKBKG_ENST00000369607.1_Intron	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	23					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAGGCATCGCCCTGGAAAA	0.567																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(157-159)ggC>ggT		glucose-6-phosphate dehydrogenase							167.0	148.0	154.0					X																	153774302		2203	4300	6503	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153774302G>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.69C>T	X.37:g.153774302G>A						G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Silent_p.G23G|G6PD_ENST00000393564.2_Silent_p.G23G|IKBKG_ENST00000369607.1_Intron|IKBKG_ENST00000369609.5_Intron	p.G53G	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			2	542	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		23					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.159C>T	CCDS44023.1																																																																																				0.567	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		93	105	0	0	0	1	0	93	105				
ALMS1	7840	broad.mit.edu	37	2	73717916	73717916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717916G>T	ENST00000264448.6	+	10	8938	c.8827G>T	c.(8827-8829)Gaa>Taa	p.E2943*	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2901*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2943					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAATGAGAGAAAACCATTC	0.438																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8827-8829)Gaa>Taa		Alstrom syndrome 1							182.0	169.0	173.0					2																	73717916		1881	4105	5986	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717916G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8827G>T	2.37:g.73717916G>T	ENSP00000264448:p.Glu2943*					ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2901*	p.E2943*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8938	+			2943					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.8827G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	g	47	13.751704	0.99761	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.78	1.94	0.25998	.	0.382752	0.22714	N	0.056527	.	.	.	.	.	.	0.30792	N	0.740752	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.4145	0.21710	0.3138:0.0:0.6862:0.0	.	.	.	.	X	2901;2943	.	ENSP00000264448:E2943X	E	+	1	0	ALMS1	73571424	1.000000	0.71417	0.390000	0.26220	0.112000	0.19704	2.393000	0.44442	0.447000	0.26695	0.650000	0.86243	GAA		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		11	170	1	0	9.70103e-10	1	1.18443e-09	11	170				
BOD1L1	259282	broad.mit.edu	37	4	13604564	13604564	+	Silent	SNP	C	C	T	rs199697209	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13604564C>T	ENST00000040738.5	-	10	4095	c.3960G>A	c.(3958-3960)gcG>gcA	p.A1320A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1320						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAGAGTGATCCGCAGGGGAGG	0.463													C|||	9	0.00179712	0.0008	0.0	5008	,	,		21810	0.0		0.0	False		,,,				2504	0.0082					ENST00000040738.5																			0											c.(3958-3960)gcG>gcA		biorientation of chromosomes in cell division 1-like 1		C		0,4406		0,0,2203	140.0	130.0	134.0		3960	-1.0	0.0	4		134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	BOD1L	NM_148894.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1320/3052	13604564	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13604564C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3960G>A	4.37:g.13604564C>T							p.A1320A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4095	-			1320					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.3960G>A	CCDS3411.2																																																																																				0.463	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		21	54	0	0	0	1	0	21	54				
ARID2	196528	broad.mit.edu	37	12	46244955	46244955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244955C>T	ENST00000334344.6	+	15	3221	c.3049C>T	c.(3049-3051)Cat>Tat	p.H1017Y	ARID2_ENST00000422737.1_Missense_Mutation_p.H868Y|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.H627Y|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1017	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGCAGCAACATTCACCAGC	0.512			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3049-3051)Cat>Tat		AT rich interactive domain 2 (ARID, RFX-like)							194.0	148.0	163.0					12																	46244955		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244955C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3049C>T	12.37:g.46244955C>T	ENSP00000335044:p.His1017Tyr					ARID2_ENST00000444670.1_Missense_Mutation_p.H627Y|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.H868Y	p.H1017Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3221	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1017			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3049C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976238	0.34848	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.31510	1.49	5.75	5.75	0.90469	.	0.249633	0.42294	D	0.000730	T	0.22205	0.0535	N	0.14661	0.345	0.37431	D	0.914038	P;P;B	0.40476	0.718;0.718;0.046	B;B;B	0.38500	0.201;0.275;0.039	T	0.07462	-1.0771	10	0.23302	T	0.38	-4.5451	19.5439	0.95284	0.0:1.0:0.0:0.0	.	1017;627;1017	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	Y	1017;134;134;868;627	ENSP00000335044:H1017Y	ENSP00000335044:H1017Y	H	+	1	0	ARID2	44531222	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.252000	0.72447	2.722000	0.93159	0.462000	0.41574	CAT		0.512	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		18	36	0	0	0	1	0	18	36				
IRF8	3394	broad.mit.edu	37	16	85936747	85936747	+	Silent	SNP	C	C	T	rs150193781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85936747C>T	ENST00000268638.5	+	2	548	c.126C>T	c.(124-126)caC>caT	p.H42H	IRF8_ENST00000563180.1_Silent_p.H42H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	42					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CTTGGAAACACGCTGGCAAGC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19694	0.0		0.0	False		,,,				2504	0.0					ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(124-126)caC>caT		interferon regulatory factor 8		C		2,4394	4.2+/-10.8	0,2,2196	115.0	108.0	111.0		126	-8.4	0.4	16	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	IRF8	NM_002163.2		0,2,6496	TT,TC,CC		0.0,0.0455,0.0154		42/427	85936747	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85936747C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.126C>T	16.37:g.85936747C>T						IRF8_ENST00000563180.1_Silent_p.H42H	p.H42H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			2	548	+		Prostate(104;0.0771)	42					A0AV82	Silent	SNP	ENST00000268638.5	37	c.126C>T	CCDS10956.1																																																																																				0.507	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		10	42	0	0	0	1	0	10	42				
HMGB3	3149	broad.mit.edu	37	X	150154607	150154607	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150154607T>C	ENST00000325307.7	+	3	330	c.234T>C	c.(232-234)taT>taC	p.Y78Y	HMGB3_ENST00000448905.2_Silent_p.Y78Y	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	78					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGATTATGGACCAGCTA	0.413																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(232-234)taT>taC		high mobility group box 3							48.0	43.0	45.0					X																	150154607		2203	4298	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150154607T>C	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.234T>C	X.37:g.150154607T>C						HMGB3_ENST00000448905.2_Silent_p.Y78Y	p.Y78Y	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			3	330	+	Acute lymphoblastic leukemia(192;6.56e-05)		78					O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.234T>C	CCDS35428.1																																																																																				0.413	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	35	0	0	0	1	0	6	35				
ANKFN1	162282	broad.mit.edu	37	17	54452064	54452064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:54452064C>T	ENST00000318698.2	+	7	943	c.908C>T	c.(907-909)aCc>aTc	p.T303I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.T303I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	303	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTGTAGTAACCAGGTATAAA	0.438																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(907-909)aCc>aTc		ankyrin-repeat and fibronectin type III domain containing 1							161.0	142.0	148.0					17																	54452064		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54452064C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.908C>T	17.37:g.54452064C>T	ENSP00000321627:p.Thr303Ile					ANKFN1_ENST00000318698.2_Missense_Mutation_p.T303I	p.T303I			Q8N957	ANKF1_HUMAN			7	908	+			303			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.908C>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.356144	0.82243	.	.	ENSG00000153930	ENST00000318698	T	0.59638	0.25	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81497	-0.0906	10	0.72032	D	0.01	-14.2698	19.7811	0.96416	0.0:1.0:0.0:0.0	.	303	Q8N957	ANKF1_HUMAN	I	303	ENSP00000321627:T303I	ENSP00000321627:T303I	T	+	2	0	ANKFN1	51807063	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.533000	0.67160	2.760000	0.94817	0.643000	0.83706	ACC		0.438	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		26	62	0	0	0	1	0	26	62				
MSI2	124540	broad.mit.edu	37	17	55334830	55334830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55334830G>A	ENST00000284073.2	+	3	316	c.107G>A	c.(106-108)aGc>aAc	p.S36N	MSI2_ENST00000416426.2_Missense_Mutation_p.S14N|MSI2_ENST00000322684.3_Missense_Mutation_p.S32N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCTACAGATAGCCTTAGAGAC	0.398			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(106-108)aGc>aAc		musashi RNA-binding protein 2							41.0	42.0	42.0					17																	55334830		2203	4300	6503	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55334830G>A	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.107G>A	17.37:g.55334830G>A	ENSP00000284073:p.Ser36Asn					MSI2_ENST00000322684.3_Missense_Mutation_p.S32N|MSI2_ENST00000416426.2_Missense_Mutation_p.S14N	p.S36N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	3	316	+	Breast(9;1.78e-08)		36			RRM 1.		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.107G>A	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825130	0.32237	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.89939	-2.59;-2.59;-2.59	3.45	3.45	0.39498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.169045	0.32430	U	0.006110	D	0.88698	0.6507	L	0.37897	1.145	0.80722	D	1	D;B;B	0.59357	0.985;0.336;0.037	D;B;B	0.67231	0.95;0.333;0.06	D	0.84711	0.0734	10	0.02654	T	1	.	14.2669	0.66123	0.0:0.0:1.0:0.0	.	14;32;36	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	N	14;36;32	ENSP00000414671:S14N;ENSP00000284073:S36N;ENSP00000313616:S32N	ENSP00000284073:S36N	S	+	2	0	MSI2	52689829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.570000	0.90748	1.651000	0.50673	0.462000	0.41574	AGC		0.398	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			8	17	0	0	0	1	0	8	17				
TOM1	10043	broad.mit.edu	37	22	35726441	35726441	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35726441C>T	ENST00000449058.2	+	8	992	c.867C>T	c.(865-867)gaC>gaT	p.D289D	TOM1_ENST00000447733.1_Silent_p.D256D|TOM1_ENST00000436462.2_Silent_p.D251D|TOM1_ENST00000425375.1_Silent_p.D244D|TOM1_ENST00000382034.5_Silent_p.D222D|TOM1_ENST00000411850.1_Silent_p.D289D	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	289	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TCGTCAATGACAATCTCAACA	0.602																																						ENST00000382034.5																			0				NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						c.(664-666)gaC>gaT		target of myb1 (chicken)							171.0	139.0	150.0					22																	35726441		2203	4300	6503	SO:0001819	synonymous_variant	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35726441C>T	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.867C>T	22.37:g.35726441C>T						TOM1_ENST00000425375.1_Silent_p.D244D|TOM1_ENST00000411850.1_Silent_p.D289D|TOM1_ENST00000449058.2_Silent_p.D289D|TOM1_ENST00000436462.2_Silent_p.D251D|TOM1_ENST00000447733.1_Silent_p.D256D	p.D222D			O60784	TOM1_HUMAN			9	1008	+			289			GAT.		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	c.666C>T	CCDS13913.1																																																																																				0.602	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		6	93	0	0	0	1	0	6	93				
CLIP3	25999	broad.mit.edu	37	19	36508319	36508319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508319G>A	ENST00000360535.4	-	12	1712	c.1485C>T	c.(1483-1485)agC>agT	p.S495S	CLIP3_ENST00000593074.1_Silent_p.S495S|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	495	GoLD.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCTCCAACGCTGTCCCCGG	0.562																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1483-1485)agC>agT		CAP-GLY domain containing linker protein 3							172.0	137.0	149.0					19																	36508319		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508319G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1485C>T	19.37:g.36508319G>A						CLIP3_ENST00000593074.1_Silent_p.S495S|AC002116.7_ENST00000586962.1_RNA	p.S495S	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		12	1712	-	Esophageal squamous(110;0.162)		495			GoLD.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.1485C>T	CCDS12486.1																																																																																				0.562	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		11	18	0	0	0	1	0	11	18				
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1516-1518)cGc>cAc		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							110.0	111.0	111.0					11																	44080142		1879	4117	5996	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44080142G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1517G>A	11.37:g.44080142G>A	ENSP00000368109:p.Arg506His						p.R506H	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			13	1573	+			506						Missense_Mutation	SNP	ENST00000378832.1	37	c.1517G>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582545	0.28180	.	.	ENSG00000205126	ENST00000378832	D	0.90620	-2.7	5.61	2.64	0.31445	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.240127	0.43747	N	0.000526	D	0.84129	0.5404	L	0.41492	1.28	0.35045	D	0.760078	B	0.33857	0.429	B	0.34242	0.178	T	0.81411	-0.0945	10	0.39692	T	0.17	-4.0909	7.5089	0.27562	0.3487:0.0:0.6513:0.0	.	506	Q4AC99	1A1L2_HUMAN	H	506	ENSP00000368109:R506H	ENSP00000368109:R506H	R	+	2	0	ACCSL	44036718	0.135000	0.22499	0.329000	0.25429	0.576000	0.36127	1.083000	0.30815	0.366000	0.24427	0.655000	0.94253	CGC		0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		45	83	0	0	0	1	0	45	83				
TET3	200424	broad.mit.edu	37	2	74275219	74275219	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74275219C>T	ENST00000409262.3	+	1	1770	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	590					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGGCTTCCCGGCCCCCCTT	0.592																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1768-1770)ccC>ccT		tet methylcytosine dioxygenase 3							37.0	43.0	41.0					2																	74275219		1901	4110	6011	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74275219C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1770C>T	2.37:g.74275219C>T							p.P590P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1770	+			590					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.1770C>T	CCDS46339.1																																																																																				0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	13	0	0	0	1	0	11	13				
DCHS1	8642	broad.mit.edu	37	11	6643931	6643931	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6643931C>T	ENST00000299441.3	-	21	9387	c.8976G>A	c.(8974-8976)gaG>gaA	p.E2992E	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2992					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTAGGTGGCTCCCGGCCCA	0.642																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(8974-8976)gaG>gaA		dachsous cadherin-related 1							72.0	61.0	65.0					11																	6643931		2201	4292	6493	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643931C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8976G>A	11.37:g.6643931C>T							p.E2992E	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9387	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2992					O15098	Silent	SNP	ENST00000299441.3	37	c.8976G>A	CCDS7771.1																																																																																				0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	2	0	0	0	1	0	4	2				
NBPF1	55672	broad.mit.edu	37	1	16901153	16901153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901153C>T	ENST00000430580.2	-	21	3114	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	NBPF1_ENST00000287968.8_Missense_Mutation_p.E108K|NBPF1_ENST00000432949.1_Missense_Mutation_p.E201K|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	743	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGAGTCCTCAGGGACTTCC	0.493																																						ENST00000430580.2																			0											c.(2227-2229)Gag>Aag		neuroblastoma breakpoint family, member 1							72.0	75.0	73.0					1																	16901153		1508	2696	4204	SO:0001583	missense	55672					cytoplasm		g.chr1:16901153C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2227G>A	1.37:g.16901153C>T	ENSP00000474456:p.Glu743Lys					NBPF1_ENST00000287968.8_Missense_Mutation_p.E108K|NBPF1_ENST00000432949.1_Missense_Mutation_p.E201K	p.E743K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	21	3114	-			743			NBPF 3.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2227G>A																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		54	376	0	0	0	1	0	54	376				
EMP1	2012	broad.mit.edu	37	12	13366719	13366719	+	Missense_Mutation	SNP	C	C	T	rs374294823		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13366719C>T	ENST00000256951.5	+	4	479	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	EMP1_ENST00000542289.1_Intron|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Missense_Mutation_p.R27W|EMP1_ENST00000544053.1_Missense_Mutation_p.R27W|EMP1_ENST00000396301.3_Missense_Mutation_p.R94W	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	94					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAGGGAAACCGGTTCTTCCT	0.498																																						ENST00000256951.5																			0											c.(280-282)Cgg>Tgg		epithelial membrane protein 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	187.0	170.0	175.0		280	5.1	1.0	12		175	0,8600		0,0,4300	no	missense	EMP1	NM_001423.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	94/158	13366719	1,13005	2203	4300	6503	SO:0001583	missense	2012				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction		g.chr12:13366719C>T	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.280C>T	12.37:g.13366719C>T	ENSP00000256951:p.Arg94Trp					EMP1_ENST00000431267.2_Missense_Mutation_p.R27W|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000544053.1_Missense_Mutation_p.R27W|EMP1_ENST00000396301.3_Missense_Mutation_p.R94W|EMP1_ENST00000542289.1_Intron	p.R94W	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	4	479	+		Prostate(47;0.194)	94					B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	ENST00000256951.5	37	c.280C>T	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853683	0.91355	2.27E-4	0.0	ENSG00000134531	ENST00000256951;ENST00000431267;ENST00000544053;ENST00000538364;ENST00000396301	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96336	0.9247	10	0.66056	D	0.02	-19.2519	16.6375	0.85062	0.1304:0.8696:0.0:0.0	.	94;94	B4DRR1;P54849	.;EMP1_HUMAN	W	94;27;27;94;94	ENSP00000256951:R94W;ENSP00000410755:R27W;ENSP00000445497:R27W;ENSP00000441223:R94W;ENSP00000379595:R94W	ENSP00000256951:R94W	R	+	1	2	EMP1	13257986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.327000	0.43858	2.824000	0.97209	0.655000	0.94253	CGG		0.498	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423		37	59	0	0	0	1	0	37	59				
METTL3	56339	broad.mit.edu	37	14	21967506	21967506	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21967506T>C	ENST00000298717.4	-	9	1613	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	488					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GGATTTCCTTTGACACCAACC	0.438																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1462-1464)Aaa>Gaa		methyltransferase like 3							174.0	163.0	167.0					14																	21967506		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21967506T>C	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1462A>G	14.37:g.21967506T>C	ENSP00000298717:p.Lys488Glu						p.K488E	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	9	1613	-	all_cancers(95;0.000628)		488					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1462A>G	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675108	0.88445	.	.	ENSG00000165819	ENST00000298717	T	0.62364	0.03	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89864	0.4018	10	0.87932	D	0	-11.2339	14.2842	0.66235	0.0:0.0:0.0:1.0	.	488	Q86U44	MTA70_HUMAN	E	488	ENSP00000298717:K488E	ENSP00000298717:K488E	K	-	1	0	METTL3	21037346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.953000	0.75995	2.027000	0.59764	0.383000	0.25322	AAA		0.438	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		3	58	0	0	0	1	0	3	58				
ANK2	287	broad.mit.edu	37	4	114276477	114276477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114276477G>T	ENST00000357077.4	+	38	6756	c.6703G>T	c.(6703-6705)Ggc>Tgc	p.G2235C	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2202C|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2235					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCATGAAGGCCTAGCAGA	0.507																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6703-6705)Ggc>Tgc		ankyrin 2, neuronal							58.0	64.0	62.0					4																	114276477		2203	4299	6502	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114276477G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6703G>T	4.37:g.114276477G>T	ENSP00000349588:p.Gly2235Cys					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2202C|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	p.G2235C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6756	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2202					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6703G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918932	0.73098	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.80214	-1.34;-1.35	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000012	D	0.89196	0.6646	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	D	0.87694	0.2556	9	.	.	.	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	2202;2235	Q01484;Q01484-4	ANK2_HUMAN;.	C	2235;2202	ENSP00000349588:G2235C;ENSP00000264366:G2202C	.	G	+	1	0	ANK2	114495926	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.668000	0.74457	2.793000	0.96121	0.655000	0.94253	GGC		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	93	1	0	1.5842e-08	1	1.90059e-08	10	93				
ADAMTSL2	9719	broad.mit.edu	37	9	136406006	136406006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136406006G>A	ENST00000354484.4	+	7	1122	c.565G>A	c.(565-567)Ggc>Agc	p.G189S	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.G298S|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G189S	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	189					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGCCCATCGGCTGTGACGG	0.682																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(892-894)Ggc>Agc		ADAMTS-like 2							36.0	33.0	34.0					9																	136406006		2203	4299	6502	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136406006G>A	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.565G>A	9.37:g.136406006G>A	ENSP00000346478:p.Gly189Ser					ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G189S|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G189S	p.G298S			Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	7	1324	+			189					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.892G>A	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203662	0.95033	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.62498	0.02;0.02;0.02	4.49	4.49	0.54785	.	0.000000	0.64402	U	0.000003	D	0.82318	0.5011	M	0.89163	3.01	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86234	0.1639	10	0.59425	D	0.04	.	17.1751	0.86839	0.0:0.0:1.0:0.0	.	189	Q86TH1	ATL2_HUMAN	S	189;298;189	ENSP00000346478:G189S;ENSP00000376781:G298S;ENSP00000376780:G189S	ENSP00000346478:G189S	G	+	1	0	ADAMTSL2	135395827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.557000	0.82243	2.043000	0.60533	0.561000	0.74099	GGC		0.682	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		11	15	0	0	0	1	0	11	15				
TMEFF2	23671	broad.mit.edu	37	2	192863836	192863836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192863836G>A	ENST00000272771.5	-	6	1819	c.635C>T	c.(634-636)tCg>tTg	p.S212L	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000392314.1_Missense_Mutation_p.S212L|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	212	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTTCTGACACGATGCTTCTTT	0.378																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(634-636)tCg>tTg		transmembrane protein with EGF-like and two follistatin-like domains 2							152.0	141.0	145.0					2																	192863836		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192863836G>A	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.635C>T	2.37:g.192863836G>A	ENSP00000272771:p.Ser212Leu					TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.S212L	p.S212L			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		6	1026	-			212			Kazal-like 2.		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.635C>T	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268464	0.95429	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.04917	3.53;3.53	5.74	5.74	0.90152	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.065428	0.64402	D	0.000005	T	0.31638	0.0803	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.02026	-1.1227	10	0.66056	D	0.02	-7.3616	20.2982	0.98569	0.0:0.0:1.0:0.0	.	212	Q9UIK5	TEFF2_HUMAN	L	212	ENSP00000376128:S212L;ENSP00000272771:S212L	ENSP00000272771:S212L	S	-	2	0	TMEFF2	192572081	1.000000	0.71417	0.917000	0.36280	0.954000	0.61252	9.420000	0.97426	2.873000	0.98535	0.563000	0.77884	TCG		0.378	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		55	75	0	0	0	1	0	55	75				
VLDLR	7436	broad.mit.edu	37	9	2650376	2650376	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2650376A>G	ENST00000382100.3	+	15	2467	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	VLDLR_ENST00000382099.2_Missense_Mutation_p.N704S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	704	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTAGGTAAAAATTGGTGTGAA	0.413																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2110-2112)aAt>aGt		very low density lipoprotein receptor							108.0	98.0	102.0					9																	2650376		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2650376A>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2111A>G	9.37:g.2650376A>G	ENSP00000371532:p.Asn704Ser					VLDLR_ENST00000382099.2_Missense_Mutation_p.N704S	p.N704S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	15	2467	+			704			EGF-like 3.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.2111A>G	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447692	0.84101	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.84660	-1.88;-1.88	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	D	0.000040	D	0.91499	0.7316	M	0.86097	2.795	0.80722	D	1	D;D;P	0.58268	0.982;0.969;0.906	P;P;P	0.57204	0.815;0.658;0.527	D	0.92860	0.6305	10	0.72032	D	0.01	.	15.7521	0.77994	1.0:0.0:0.0:0.0	.	704;704;704	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	S	704;704;583	ENSP00000371532:N704S;ENSP00000371531:N704S	ENSP00000371524:N583S	N	+	2	0	VLDLR	2640376	1.000000	0.71417	0.977000	0.42913	0.985000	0.73830	8.875000	0.92372	2.183000	0.69458	0.383000	0.25322	AAT		0.413	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		3	37	0	0	0	1	0	3	37				
LRP1	4035	broad.mit.edu	37	12	57573202	57573202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57573202C>T	ENST00000243077.3	+	29	5295	c.4829C>T	c.(4828-4830)aCg>aTg	p.T1610M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1610					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCTCCTTCACGGTGCCCGAC	0.567																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4828-4830)aCg>aTg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						268.0	177.0	208.0					12																	57573202		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573202C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4829C>T	12.37:g.57573202C>T	ENSP00000243077:p.Thr1610Met						p.T1610M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	29	5295	+			1610					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4829C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879860	0.91740	.	.	ENSG00000123384	ENST00000243077	D	0.90504	-2.68	4.5	4.5	0.54988	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.94978	0.8375	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95294	0.8397	10	0.62326	D	0.03	.	16.4748	0.84129	0.0:1.0:0.0:0.0	.	1610	Q07954	LRP1_HUMAN	M	1610	ENSP00000243077:T1610M	ENSP00000243077:T1610M	T	+	2	0	LRP1	55859469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	2.480000	0.83734	0.655000	0.94253	ACG		0.567	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		15	17	0	0	0	1	0	15	17				
MUC21	394263	broad.mit.edu	37	6	30954212	30954212	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30954212T>G	ENST00000376296.3	+	2	501	c.260T>G	c.(259-261)aTc>aGc	p.I87S	MUC21_ENST00000486149.2_De_novo_Start_InFrame	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	87	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGATCAGCACAGCC	0.577																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(259-261)aTc>aGc		mucin 21, cell surface associated							212.0	182.0	192.0					6																	30954212		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954212T>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.260T>G	6.37:g.30954212T>G	ENSP00000365473:p.Ile87Ser					MUC21_ENST00000486149.2_De_novo_Start_InFrame	p.I87S	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	501	+			87			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.260T>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	T	1.832	-0.469512	0.04445	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01665	4.7	2.83	-4.7	0.03288	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.41342	-0.9514	8	.	.	.	.	5.1254	0.14882	0.1417:0.3505:0.0:0.5078	.	87	Q5SSG8	MUC21_HUMAN	S	87	ENSP00000365473:I87S	.	I	+	2	0	MUC21	31062191	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.860000	0.01656	-1.037000	0.03283	-1.908000	0.00523	ATC		0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		32	79	0	0	0	1	0	32	79				
TMCO4	255104	broad.mit.edu	37	1	20097881	20097881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20097881C>A	ENST00000294543.6	-	5	515	c.274G>T	c.(274-276)Gga>Tga	p.G92*	TMCO4_ENST00000375127.1_Nonsense_Mutation_p.G92*|TMCO4_ENST00000375122.2_Nonsense_Mutation_p.G92*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	92						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTTCACCTCCCAGGCCGCTC	0.537																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(274-276)Gga>Tga		transmembrane and coiled-coil domains 4							95.0	92.0	93.0					1																	20097881		2203	4300	6503	SO:0001587	stop_gained	255104					integral to membrane		g.chr1:20097881C>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.274G>T	1.37:g.20097881C>A	ENSP00000294543:p.Gly92*					TMCO4_ENST00000375127.1_Nonsense_Mutation_p.G92*|TMCO4_ENST00000375122.2_Nonsense_Mutation_p.G92*	p.G92*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	5	515	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	92					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Nonsense_Mutation	SNP	ENST00000294543.6	37	c.274G>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	39	7.602526	0.98384	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-14.5025	17.7377	0.88399	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000294543:G92X	G	-	1	0	TMCO4	19970468	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.167000	0.64972	2.526000	0.85167	0.561000	0.74099	GGA		0.537	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		17	31	1	0	0.000422831	1	0.000460248	17	31				
CCT7	10574	broad.mit.edu	37	2	73470241	73470241	+	Missense_Mutation	SNP	G	G	A	rs11544996		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73470241G>A	ENST00000258091.5	+	4	518	c.377G>A	c.(376-378)cGc>cAc	p.R126H	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000539919.1_Missense_Mutation_p.R82H|CCT7_ENST00000538797.1_Missense_Mutation_p.A16T|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.R39H|CCT7_ENST00000537131.1_Missense_Mutation_p.R26H	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	126					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CGAGCTTTCCGCACAGCCACC	0.512																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(244-246)cGc>cAc		chaperonin containing TCP1, subunit 7 (eta)							105.0	102.0	103.0					2																	73470241		1959	4141	6100	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73470241G>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.377G>A	2.37:g.73470241G>A	ENSP00000258091:p.Arg126His					CCT7_ENST00000258091.5_Missense_Mutation_p.R126H|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_Missense_Mutation_p.A16T|CCT7_ENST00000537131.1_Missense_Mutation_p.R26H|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.R39H	p.R82H	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			5	616	+			126					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.245G>A	CCDS46336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.172796|4.172796	0.78452|0.78452	.|.	.|.	ENSG00000135624|ENSG00000135624	ENST00000538797|ENST00000540468;ENST00000539919;ENST00000258091;ENST00000399032;ENST00000537131	T|T;T;T;T;T	0.11495|0.79352	2.77|-1.26;-1.26;-1.26;-1.26;-1.26	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.104252	.|0.64402	.|D	.|0.000002	D|D	0.85500|0.85500	0.5711|0.5711	M|M	0.68593|0.68593	2.085|2.085	0.35562|0.35562	D|D	0.804745|0.804745	B|P;P;D	0.28820|0.76494	0.224|0.876;0.492;0.999	B|B;B;D	0.25506|0.62955	0.061|0.269;0.069;0.909	D|D	0.89656|0.89656	0.3873|0.3873	9|10	0.72032|0.72032	D|D	0.01|0.01	-6.7831|-6.7831	16.0791|16.0791	0.80989|0.80989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs11544996|rs11544996	16|39;26;126	B7Z1C9|B7Z4Z7;F5GZK5;Q99832	.|.;.;TCPH_HUMAN	T|H	16|39;82;126;82;26	ENSP00000438462:A16T|ENSP00000442058:R39H;ENSP00000437824:R82H;ENSP00000258091:R126H;ENSP00000412996:R82H;ENSP00000444379:R26H	ENSP00000438462:A16T|ENSP00000258091:R126H	A|R	+|+	1|2	0|0	CCT7|CCT7	73323749|73323749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.564000|9.564000	0.98151|0.98151	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.512	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			34	46	0	0	0	1	0	34	46				
MUC13	56667	broad.mit.edu	37	3	124635295	124635295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124635295G>A	ENST00000311075.3	-	6	868	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	278	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTTGTCATCAGCACGCATTTC	0.333																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(829-831)gCt>gTt		mucin 13, cell surface associated							78.0	69.0	72.0					3																	124635295		2202	4299	6501	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124635295G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.830C>T	3.37:g.124635295G>A	ENSP00000312235:p.Ala277Val						p.A277V	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			6	868	-			277			SEA.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.830C>T		.	.	.	.	.	.	.	.	.	.	G	15.83	2.948607	0.53186	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;T	0.39406	1.08;1.08	4.43	0.349	0.16032	SEA (2);	0.549802	0.16836	N	0.197542	T	0.50120	0.1597	L	0.54323	1.7	0.09310	N	1	D	0.63046	0.992	D	0.65323	0.934	T	0.36016	-0.9765	10	0.36615	T	0.2	-11.265	7.6899	0.28561	0.0:0.1527:0.3766:0.4706	.	277	Q9H3R2	MUC13_HUMAN	V	277;147	ENSP00000312235:A277V;ENSP00000418660:A147V	ENSP00000312235:A277V	A	-	2	0	MUC13	126117985	0.005000	0.15991	0.000000	0.03702	0.136000	0.21042	1.479000	0.35453	0.048000	0.15891	0.563000	0.77884	GCT		0.333	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		7	10	0	0	0	1	0	7	10				
CYYR1	116159	broad.mit.edu	37	21	27945278	27945278	+	5'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27945278G>A	ENST00000299340.4	-	0	325				CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000435845.2_Silent_p.S102S	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1							integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGGCCTGAGGCTTGGAGCGA	0.637																																						ENST00000435845.2																			0				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						c.(304-306)agC>agT		cysteine/tyrosine-rich 1							36.0	37.0	37.0					21																	27945278		2201	4298	6499	SO:0001623	5_prime_UTR_variant	116159					integral to membrane		g.chr21:27945278G>A	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.-19C>T	21.37:g.27945278G>A						CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR	p.S102S			Q96J86	CYYR1_HUMAN			1	325	-			143					A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	c.306C>T	CCDS13578.1																																																																																				0.637	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		3	20	0	0	0	1	0	3	20				
IGDCC3	9543	broad.mit.edu	37	15	65625621	65625621	+	Missense_Mutation	SNP	G	G	A	rs560181953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65625621G>A	ENST00000327987.4	-	6	1207	c.956C>T	c.(955-957)aCg>aTg	p.T319M	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	319	Ig-like C2-type 3.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTGTGCCGTTCTCCTCAC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17905	0.0		0.0	False		,,,				2504	0.001					ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(955-957)aCg>aTg		immunoglobulin superfamily, DCC subclass, member 3							81.0	63.0	69.0					15																	65625621		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65625621G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.956C>T	15.37:g.65625621G>A	ENSP00000332773:p.Thr319Met					IGDCC3_ENST00000559231.1_5'UTR	p.T319M	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			6	1207	-			319			Ig-like C2-type 3.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.956C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746901	0.69418	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.28895	1.59	5.17	5.17	0.71159	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68168	-0.5480	10	0.62326	D	0.03	-7.6566	18.69	0.91580	0.0:0.0:1.0:0.0	.	319	Q8IVU1	IGDC3_HUMAN	M	319;182	ENSP00000332773:T319M	ENSP00000332773:T319M	T	-	2	0	IGDCC3	63412674	1.000000	0.71417	0.295000	0.24960	0.307000	0.27823	9.751000	0.98889	2.419000	0.82065	0.655000	0.94253	ACG		0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		5	32	0	0	0	1	0	5	32				
NPY4R	5540	broad.mit.edu	37	10	47086888	47086888	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47086888G>A	ENST00000395716.1	+	2	190	c.105G>A	c.(103-105)caG>caA	p.Q35Q	NPY4R_ENST00000374312.1_Silent_p.Q35Q			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	35					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AACATTGCCAGGATTCCGTGG	0.537																																						ENST00000374312.1																			0											c.(103-105)caG>caA		neuropeptide Y receptor Y4							192.0	171.0	178.0					10																	47086888		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47086888G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.105G>A	10.37:g.47086888G>A						NPY4R_ENST00000395716.1_Silent_p.Q35Q	p.Q35Q	NM_005972.4	NP_005963.3					3	524	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.105G>A	CCDS31193.1																																																																																				0.537	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			5	123	0	0	0	1	0	5	123				
ITIH6	347365	broad.mit.edu	37	X	54800551	54800551	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54800551T>C	ENST00000218436.6	-	6	895	c.866A>G	c.(865-867)gAc>gGc	p.D289G		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	289	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCTGCTTACGTCAATAACAAA	0.418																																						ENST00000218436.6																			0											c.(865-867)gAc>gGc		inter-alpha-trypsin inhibitor heavy chain family, member 6							79.0	60.0	66.0					X																	54800551		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54800551T>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.866A>G	X.37:g.54800551T>C	ENSP00000218436:p.Asp289Gly						p.D289G	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			6	895	-			289			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.866A>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	t	13.19	2.163232	0.38217	.	.	ENSG00000102313	ENST00000218436	T	0.62788	0.0	4.39	3.22	0.36961	von Willebrand factor, type A (3);	0.138852	0.44483	U	0.000441	D	0.82545	0.5060	H	0.95151	3.63	0.41707	D	0.98943	D	0.71674	0.998	D	0.83275	0.996	D	0.83558	0.0105	10	0.87932	D	0	.	8.6039	0.33762	0.0:0.0986:0.0:0.9014	.	289	Q6UXX5	ITH5L_HUMAN	G	289	ENSP00000218436:D289G	ENSP00000218436:D289G	D	-	2	0	ITIH5L	54817276	1.000000	0.71417	0.029000	0.17559	0.056000	0.15407	4.995000	0.63908	0.633000	0.30452	0.345000	0.21793	GAC		0.418	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		5	34	0	0	0	1	0	5	34				
SVEP1	79987	broad.mit.edu	37	9	113312385	113312385	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113312385C>A	ENST00000401783.2	-	2	868		c.e2-1		SVEP1_ENST00000374461.1_Splice_Site|SVEP1_ENST00000302728.8_Splice_Site|SVEP1_ENST00000467821.1_5'Flank|SVEP1_ENST00000374469.1_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGAATTTGCTGTAATGAAA	0.393																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.e2-1		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							203.0	203.0	203.0					9																	113312385		1905	4134	6039	SO:0001630	splice_region_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312385C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.532-1G>T	9.37:g.113312385C>A						SVEP1_ENST00000374461.1_Splice_Site|SVEP1_ENST00000302728.8_Splice_Site|SVEP1_ENST00000374469.1_Splice_Site		NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	868	-								Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Splice_Site	SNP	ENST00000401783.2	37		CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548364	0.65311	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SVEP1	112352206	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.445000	0.80570	2.737000	0.93849	0.563000	0.77884	.		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	22	190	1	0	5.35047e-06	1	6.11229e-06	22	190				
APCDD1L	164284	broad.mit.edu	37	20	57036050	57036050	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57036050A>T	ENST00000371149.3	-	4	1532	c.1302T>A	c.(1300-1302)gaT>gaA	p.D434E	APCDD1L_ENST00000491015.1_5'Flank|APCDD1L_ENST00000439429.1_Missense_Mutation_p.D445E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	434						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACTTGAGCCATCGGTGGGCC	0.622																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(1300-1302)gaT>gaA		adenomatosis polyposis coli down-regulated 1-like							106.0	101.0	103.0					20																	57036050		2203	4300	6503	SO:0001583	missense	164284					integral to membrane		g.chr20:57036050A>T	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1302T>A	20.37:g.57036050A>T	ENSP00000360191:p.Asp434Glu					APCDD1L_ENST00000439429.1_Missense_Mutation_p.D445E	p.D434E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1532	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		434						Missense_Mutation	SNP	ENST00000371149.3	37	c.1302T>A	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617628	0.46736	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.16897	2.31;2.31	4.22	-6.44	0.01920	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	M	0.73430	2.235	0.31812	N	0.627024	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.40327	-0.9569	10	0.72032	D	0.01	.	14.8623	0.70389	0.403:0.0:0.597:0.0	.	445;434	F5H6V6;Q8NCL9	.;APCDL_HUMAN	E	434;445	ENSP00000360191:D434E;ENSP00000413261:D445E	ENSP00000360191:D434E	D	-	3	2	APCDD1L	56469456	0.791000	0.28800	0.046000	0.18839	0.168000	0.22595	-0.105000	0.10907	-1.741000	0.01344	0.377000	0.23210	GAT		0.622	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		7	97	0	0	0	1	0	7	97				
SLC16A5	9121	broad.mit.edu	37	17	73089920	73089920	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089920C>A	ENST00000450736.2	+	2	604	c.189C>A	c.(187-189)ctC>ctA	p.L63L	SLC16A5_ENST00000329783.4_Silent_p.L63L|SLC16A5_ENST00000538213.2_Silent_p.L103L|SLC16A5_ENST00000580123.1_Silent_p.L63L|SLC16A5_ENST00000585293.1_3'UTR			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	63					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CGGCTGTGCTCCACATGGCAG	0.592																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(187-189)ctC>ctA		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						108.0	96.0	100.0					17																	73089920		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73089920C>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.189C>A	17.37:g.73089920C>A						SLC16A5_ENST00000580123.1_Silent_p.L63L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Silent_p.L63L|SLC16A5_ENST00000538213.2_Silent_p.L103L	p.L63L			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	604	+	all_lung(278;0.226)		63					B4E288	Silent	SNP	ENST00000450736.2	37	c.189C>A	CCDS11713.1																																																																																				0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		6	87	1	0	0.0215528	1	0.0221649	6	87				
TACC2	10579	broad.mit.edu	37	10	123846833	123846833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846833C>T	ENST00000369005.1	+	4	5158	c.4818C>T	c.(4816-4818)tgC>tgT	p.C1606C	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.C1606C|TACC2_ENST00000334433.3_Silent_p.C1606C|TACC2_ENST00000515603.1_Silent_p.C1606C|TACC2_ENST00000515273.1_Silent_p.C1606C|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1606					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGCCTGCGACAGTCCAC	0.592																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4816-4818)tgC>tgT		transforming, acidic coiled-coil containing protein 2							82.0	80.0	81.0					10																	123846833		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846833C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4818C>T	10.37:g.123846833C>T						TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.C1606C|TACC2_ENST00000515273.1_Silent_p.C1606C|TACC2_ENST00000453444.2_Silent_p.C1606C|TACC2_ENST00000515603.1_Silent_p.C1606C	p.C1606C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	5158	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1606					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.4818C>T	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			18	33	0	0	0	1	0	18	33				
NUGGC	389643	broad.mit.edu	37	8	27922074	27922074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27922074C>T	ENST00000413272.2	-	7	1028	c.886G>A	c.(886-888)Gac>Aac	p.D296N	NUGGC_ENST00000341513.6_Missense_Mutation_p.D296N	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	296					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D296N(1)									CTGTTGAAGTCGCCTGTGCCT	0.507																																						ENST00000413272.2																			1	Substitution - Missense(1)	p.D296N(1)	large_intestine(1)								c.(886-888)Gac>Aac		nuclear GTPase, germinal center associated							76.0	79.0	78.0					8																	27922074		2060	4187	6247	SO:0001583	missense	389643							g.chr8:27922074C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.886G>A	8.37:g.27922074C>T	ENSP00000408697:p.Asp296Asn					NUGGC_ENST00000341513.6_Missense_Mutation_p.D296N	p.D296N	NM_001010906.1	NP_001010906.1					7	1028	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.886G>A	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999497	0.93227	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.96856	-4.15;-4.15	6.08	6.08	0.98989	Dynamin, GTPase domain (1);	0.000000	0.64402	D	0.000002	D	0.98210	0.9408	M	0.85630	2.765	0.40611	D	0.981678	D	0.89917	1.0	D	0.97110	1.0	D	0.99187	1.0869	10	0.87932	D	0	-25.5178	16.1754	0.81847	0.0:1.0:0.0:0.0	.	296	Q68CJ6	SLIP_HUMAN	N	296	ENSP00000408697:D296N;ENSP00000345031:D296N	ENSP00000345031:D296N	D	-	1	0	C8orf80	27977993	0.996000	0.38824	0.974000	0.42286	0.998000	0.95712	4.482000	0.60257	2.895000	0.99335	0.650000	0.86243	GAC		0.507	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		11	26	0	0	0	1	0	11	26				
PACRGL	133015	broad.mit.edu	37	4	20711343	20711343	+	Missense_Mutation	SNP	G	G	A	rs543461173		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20711343G>A	ENST00000503585.1	+	5	704	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.E105K|PACRGL_ENST00000295290.8_Missense_Mutation_p.E105K|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.E105K|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000513459.1_Intron	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	105										endometrium(2)|lung(7)|prostate(1)	10						ATTACAGTGGGAATGTCCTCC	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		18168	0.001		0.0	False		,,,				2504	0.0					ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(313-315)Gaa>Aaa		PARK2 co-regulated-like							130.0	134.0	133.0					4																	20711343		2203	4298	6501	SO:0001583	missense	133015						binding	g.chr4:20711343G>A	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.313G>A	4.37:g.20711343G>A	ENSP00000423881:p.Glu105Lys					PACRGL_ENST00000507634.1_Missense_Mutation_p.E105K|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.E105K|PACRGL_ENST00000503585.1_Missense_Mutation_p.E105K|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Intron	p.E105K	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			5	704	+			105					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.313G>A	CCDS58895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.92|15.92	2.976454|2.976454	0.53720|0.53720	.|.	.|.	ENSG00000163138|ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000509469;ENST00000513590;ENST00000507634|ENST00000506457	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.376365|.	0.27659|.	N|.	0.018399|.	T|T	0.49474|0.49474	0.1559|0.1559	N|N	0.11284|0.11284	0.12|0.12	0.80722|0.80722	D|D	1|1	P;P;B|.	0.44344|.	0.601;0.833;0.404|.	B;B;B|.	0.42738|.	0.186;0.396;0.117|.	T|T	0.43540|0.43540	-0.9385|-0.9385	9|5	0.05959|.	T|.	0.93|.	-14.5347|-14.5347	19.9658|19.9658	0.97266|0.97266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105;153;105|.	Q8N7B6;D6R9N9;Q8N7B6-2|.	PACRL_HUMAN;.;.|.	K|E	153;105;105;105;105;105;105;105|36	.|.	ENSP00000295290:E105K|.	E|G	+|+	1|2	0|0	PACRGL|PACRGL	20320441|20320441	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.986000|0.986000	0.74619|0.74619	7.498000|7.498000	0.81546|0.81546	2.721000|2.721000	0.93114|0.93114	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.289	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		30	58	0	0	0	1	0	30	58				
MIB2	142678	broad.mit.edu	37	1	1563491	1563491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1563491C>T	ENST00000357210.4	+	14	2163	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	MIB2_ENST00000378710.3_Silent_p.I613I|MIB2_ENST00000504599.1_Silent_p.I605I|MIB2_ENST00000520777.1_Silent_p.I702I|MIB2_ENST00000378708.1_Silent_p.I555I|MIB2_ENST00000518681.1_Silent_p.I641I|MIB2_ENST00000378712.1_Silent_p.I526I|MIB2_ENST00000505820.2_Silent_p.I706I|MIB2_ENST00000355826.5_Silent_p.I692I|MIB2_ENST00000360522.4_Silent_p.I614I	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	649					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCAAACATCGATGTTACCG	0.662																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(1945-1947)atC>atT		mindbomb E3 ubiquitin protein ligase 2							52.0	58.0	56.0					1																	1563491		2192	4282	6474	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563491C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1947C>T	1.37:g.1563491C>T						MIB2_ENST00000504599.1_Silent_p.I605I|MIB2_ENST00000355826.5_Silent_p.I692I|MIB2_ENST00000378712.1_Silent_p.I526I|MIB2_ENST00000520777.1_Silent_p.I702I|MIB2_ENST00000378708.1_Silent_p.I555I|MIB2_ENST00000378710.3_Silent_p.I613I|MIB2_ENST00000360522.4_Silent_p.I614I|MIB2_ENST00000518681.1_Silent_p.I641I|MIB2_ENST00000505820.2_Silent_p.I706I	p.I649I	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	14	2163	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	649					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.1947C>T		.	.	.	.	.	.	.	.	.	.	C	0.826	-0.746815	0.03065	.	.	ENSG00000197530	ENST00000514234	.	.	.	3.87	-2.86	0.05717	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9088	3.7518	0.08569	0.2706:0.3144:0.0:0.415	.	.	.	.	X	465	.	.	R	+	1	2	MIB2	1553354	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.089000	0.00610	-1.004000	0.03421	-0.275000	0.10095	CGA		0.662	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		10	12	0	0	0	1	0	10	12				
TNN	63923	broad.mit.edu	37	1	175087717	175087717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175087717C>A	ENST00000239462.4	+	11	2520	c.2407C>A	c.(2407-2409)Ctg>Atg	p.L803M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	803	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCCAAAACCTGGTCACTGA	0.522																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2407-2409)Ctg>Atg		tenascin N							53.0	59.0	57.0					1																	175087717		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175087717C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2407C>A	1.37:g.175087717C>A	ENSP00000239462:p.Leu803Met						p.L803M	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	11	2520	+		Breast(1374;0.000962)	803			Fibronectin type-III 7.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2407C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789719	0.31685	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.65178	-0.14	5.17	2.25	0.28309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.213608	0.41097	D	0.000945	T	0.79100	0.4389	M	0.91920	3.255	0.47308	D	0.999384	D	0.89917	1.0	D	0.97110	1.0	T	0.76394	-0.2975	10	0.72032	D	0.01	.	5.8428	0.18643	0.0:0.6343:0.1393:0.2264	.	803	Q9UQP3	TENN_HUMAN	M	803;626	ENSP00000239462:L803M	ENSP00000239462:L803M	L	+	1	2	TNN	173354340	0.998000	0.40836	1.000000	0.80357	0.113000	0.19764	1.472000	0.35376	0.270000	0.21984	0.491000	0.48974	CTG		0.522	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	67	1	0	0.00116845	1	0.00124821	6	67				
RLTPR	146206	broad.mit.edu	37	16	67682846	67682846	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67682846C>T	ENST00000334583.6	+	17	1888	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	RLTPR_ENST00000545661.1_Silent_p.G484G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	520					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGACGCAGGCGCTGTGAGCT	0.627																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1558-1560)ggC>ggT		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							39.0	47.0	45.0					16																	67682846		2137	4248	6385	SO:0001819	synonymous_variant	146206							g.chr16:67682846C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1560C>T	16.37:g.67682846C>T						RLTPR_ENST00000545661.1_Silent_p.G484G	p.G520G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	17	1888	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	520					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1560C>T	CCDS45513.1																																																																																				0.627	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		8	7	0	0	0	1	0	8	7				
ZNF471	57573	broad.mit.edu	37	19	57029857	57029857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57029857G>A	ENST00000308031.5	+	4	300	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	ZNF471_ENST00000591537.1_Missense_Mutation_p.C56Y|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTAGGTCTTTGCATTTCTAAG	0.398																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(166-168)tGc>tAc		zinc finger protein 471							86.0	77.0	80.0					19																	57029857		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57029857G>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.167G>A	19.37:g.57029857G>A	ENSP00000309161:p.Cys56Tyr					ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.C56Y	p.C56Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	4	300	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	56			KRAB.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.167G>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286230	0.23478	.	.	ENSG00000196263	ENST00000308031	T	0.00784	5.7	4.3	1.92	0.25849	Krueppel-associated box (3);	.	.	.	.	T	0.02649	0.0080	M	0.62088	1.915	0.20563	N	0.999884	D	0.76494	0.999	D	0.83275	0.996	T	0.49254	-0.8959	9	0.18710	T	0.47	.	10.0148	0.42008	0.0:0.4045:0.5955:0.0	.	56	Q9BX82	ZN471_HUMAN	Y	56	ENSP00000309161:C56Y	ENSP00000309161:C56Y	C	+	2	0	ZNF471	61721669	0.292000	0.24362	0.919000	0.36401	0.247000	0.25773	0.431000	0.21444	1.119000	0.41883	0.655000	0.94253	TGC		0.398	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		6	10	0	0	0	1	0	6	10				
EXT1	2131	broad.mit.edu	37	8	119122459	119122459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119122459C>A	ENST00000378204.2	-	1	1633	c.827G>T	c.(826-828)gGa>gTa	p.G276V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	276					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTGTCTGATCCTATCCCTGT	0.517			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(826-828)gGa>gTa		exostosin glycosyltransferase 1							233.0	189.0	204.0					8																	119122459		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122459C>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.827G>T	8.37:g.119122459C>A	ENSP00000367446:p.Gly276Val						p.G276V	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1633	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		276					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.827G>T	CCDS6324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.470937|3.470937	0.63625|0.63625	.|.	.|.	ENSG00000182197|ENSG00000182197	ENST00000378204|ENST00000436216	D|.	0.97688|.	-4.49|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87132|0.87132	0.6101|0.6101	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.62382|.	0.901|.	D|D	0.90260|0.90260	0.4300|0.4300	10|5	0.44086|.	T|.	0.13|.	-15.5885|-15.5885	19.2346|19.2346	0.93853|0.93853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	276|.	Q16394|.	EXT1_HUMAN|.	V|S	276|65	ENSP00000367446:G276V|.	ENSP00000367446:G276V|.	G|R	-|-	2|3	0|2	EXT1|EXT1	119191640|119191640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.609000|7.609000	0.82925|0.82925	2.536000|2.536000	0.85505|0.85505	0.462000|0.462000	0.41574|0.41574	GGA|AGG		0.517	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		5	56	1	0	0.000602214	1	0.000649039	5	56				
ABCC12	94160	broad.mit.edu	37	16	48120658	48120658	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120658T>C	ENST00000311303.3	-	26	4053	c.3708A>G	c.(3706-3708)agA>agG	p.R1236R	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1236	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTACTGTGTCTCTCATGAATG	0.507																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3706-3708)agA>agG		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							170.0	169.0	169.0					16																	48120658		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48120658T>C	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3708A>G	16.37:g.48120658T>C						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.R1236R	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			26	4053	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1236			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3708A>G	CCDS10730.1																																																																																				0.507	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		14	121	0	0	0	1	0	14	121				
CADPS2	93664	broad.mit.edu	37	7	122111440	122111440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122111440C>T	ENST00000449022.2	-	14	2194	c.2175G>A	c.(2173-2175)gtG>gtA	p.V725V	CADPS2_ENST00000334010.7_Silent_p.V726V|CADPS2_ENST00000412584.2_Silent_p.V722V|CADPS2_ENST00000313070.7_Silent_p.V722V	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	725					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTGCCGTGCACATGAGAGG	0.423																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2176-2178)gtG>gtA		Ca++-dependent secretion activator 2							95.0	96.0	95.0					7																	122111440		1925	4159	6084	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111440C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2175G>A	7.37:g.122111440C>T						CADPS2_ENST00000313070.7_Silent_p.V722V|CADPS2_ENST00000449022.2_Silent_p.V725V|CADPS2_ENST00000412584.2_Silent_p.V722V	p.V726V	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			13	2599	-			725					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2178G>A	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031766	0.19590	.	.	ENSG00000081803	ENST00000397721	.	.	.	6.17	5.25	0.73442	.	.	.	.	.	T	0.60573	0.2279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56341	-0.7995	4	.	.	.	-16.444	9.484	0.38917	0.3356:0.5519:0.1125:0.0	.	.	.	.	T	371	.	.	A	-	1	0	CADPS2	121898676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.492000	0.35594	2.941000	0.99782	0.655000	0.94253	GCA		0.423	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	33	0	0	0	1	0	5	33				
NFKB1	4790	broad.mit.edu	37	4	103528372	103528372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528372G>A	ENST00000505458.1	+	18	2294	c.2017G>A	c.(2017-2019)Gct>Act	p.A673T	NFKB1_ENST00000600343.1_Missense_Mutation_p.A493T|NFKB1_ENST00000226574.4_Missense_Mutation_p.A674T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A673T			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	673	Essential for interaction with HIF1AN.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GCTGGTGGCCGCTGGGGCTGA	0.577																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2020-2022)Gct>Act		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						94.0	94.0	94.0					4																	103528372		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103528372G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2017G>A	4.37:g.103528372G>A	ENSP00000424790:p.Ala673Thr					NFKB1_ENST00000600343.1_Missense_Mutation_p.A493T|NFKB1_ENST00000505458.1_Missense_Mutation_p.A673T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A673T	p.A674T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	18	2487	+		Hepatocellular(203;0.217)	673			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2020G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514363	0.85389	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.65549	-0.16;-0.16;-0.16	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.069901	0.56097	D	0.000024	T	0.78704	0.4325	M	0.75884	2.315	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.99;0.989	T	0.78625	-0.2131	10	0.38643	T	0.18	.	18.0418	0.89321	0.0:0.0:1.0:0.0	.	493;673;674	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	T	674;673;673	ENSP00000226574:A674T;ENSP00000378297:A673T;ENSP00000424790:A673T	ENSP00000226574:A674T	A	+	1	0	NFKB1	103747410	1.000000	0.71417	0.924000	0.36721	0.467000	0.32768	6.260000	0.72502	2.308000	0.77769	0.655000	0.94253	GCT		0.577	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			5	70	0	0	0	1	0	5	70				
PHF3	23469	broad.mit.edu	37	6	64401711	64401711	+	Silent	SNP	C	C	T	rs137872439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64401711C>T	ENST00000262043.3	+	5	2614	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	PHF3_ENST00000393387.1_Silent_p.G758G			Q92576	PHF3_HUMAN	PHD finger protein 3	758					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G758G(2)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCAGATGGGCGAGGAAGACA	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16667	0.0		0.0	False		,,,				2504	0.0				GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			2	Substitution - coding silent(2)	p.G758G(2)	upper_aerodigestive_tract(2)	breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2272-2274)ggC>ggT		PHD finger protein 3		C		2,4404	4.2+/-10.8	0,2,2201	164.0	166.0	166.0		2274	4.0	1.0	6	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PHF3	NM_015153.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		758/2040	64401711	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64401711C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2274C>T	6.37:g.64401711C>T						PHF3_ENST00000393387.1_Silent_p.G758G	p.G758G			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		5	2614	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		758					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.2274C>T	CCDS4966.1																																																																																				0.413	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			57	96	0	0	0	1	0	57	96				
PIWIL1	9271	broad.mit.edu	37	12	130855859	130855859	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130855859C>T	ENST00000245255.3	+	20	2732	c.2460C>T	c.(2458-2460)taC>taT	p.Y820Y	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	820	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACATCTATTACAACTGGCCAG	0.408																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2458-2460)taC>taT		piwi-like RNA-mediated gene silencing 1							171.0	146.0	155.0					12																	130855859		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130855859C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2460C>T	12.37:g.130855859C>T						PIWIL1_ENST00000541480.1_3'UTR	p.Y820Y	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	20	2732	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		820			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.2460C>T	CCDS9268.1																																																																																				0.408	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			40	47	0	0	0	1	0	40	47				
MCCC2	64087	broad.mit.edu	37	5	70922494	70922494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70922494G>A	ENST00000340941.6	+	7	781	c.652G>A	c.(652-654)Gca>Aca	p.A218T	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000509358.2_Missense_Mutation_p.A218T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	218	Carboxyltransferase.		A -> T (in MCC2D). {ECO:0000269|PubMed:11170888}.		biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTCCTGCACCGCAGGAGGAGC	0.498																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30	GRCh37	CM010915	MCCC2	M		c.(652-654)Gca>Aca		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						83.0	75.0	78.0					5																	70922494		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70922494G>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.652G>A	5.37:g.70922494G>A	ENSP00000343657:p.Ala218Thr					MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000509358.2_Missense_Mutation_p.A218T|MCCC2_ENST00000510895.2_3'UTR	p.A218T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	7	781	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	218		A -> T (in MCC2 deficiency).	Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.652G>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181047	0.78677	.	.	ENSG00000131844	ENST00000340941;ENST00000509358	D;D	0.98313	-4.86;-4.86	5.44	5.44	0.79542	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97938	1.0324	10	0.87932	D	0	-18.005	18.0409	0.89318	0.0:0.0:1.0:0.0	.	218;87;218	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	T	218	ENSP00000343657:A218T;ENSP00000420994:A218T	ENSP00000343657:A218T	A	+	1	0	MCCC2	70958250	1.000000	0.71417	0.776000	0.31678	0.176000	0.22953	9.069000	0.93967	2.566000	0.86566	0.563000	0.77884	GCA		0.498	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			22	29	0	0	0	1	0	22	29				
FAM189B	10712	broad.mit.edu	37	1	155217722	155217722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155217722G>T	ENST00000361361.2	-	12	2367	c.1858C>A	c.(1858-1860)Cct>Act	p.P620T	FAM189B_ENST00000368368.3_Missense_Mutation_p.P602T|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.P524T	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	620						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTCGGCCAGGCCGGCCCCAC	0.617																																						ENST00000361361.2																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1858-1860)Cct>Act		family with sequence similarity 189, member B							16.0	19.0	18.0					1																	155217722		2202	4300	6502	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155217722G>T	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1858C>A	1.37:g.155217722G>T	ENSP00000354958:p.Pro620Thr					FAM189B_ENST00000368368.3_Missense_Mutation_p.P602T|FAM189B_ENST00000350210.2_Missense_Mutation_p.P524T	p.P620T	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN			12	2367	-			620					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1858C>A	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622256	0.28889	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361	T;T;T	0.02709	4.19;4.19;4.19	4.51	3.58	0.41010	.	0.372145	0.24180	N	0.040811	T	0.00754	0.0025	N	0.19112	0.55	0.27136	N	0.961789	B;B;B;B	0.32188	0.359;0.018;0.03;0.018	B;B;B;B	0.29862	0.108;0.016;0.037;0.016	T	0.49890	-0.8891	10	0.36615	T	0.2	.	8.9296	0.35661	0.1039:0.0:0.8961:0.0	.	385;602;524;620	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	T	524;602;620;303	ENSP00000307128:P524T;ENSP00000357352:P602T;ENSP00000354958:P620T	ENSP00000323164:P303T	P	-	1	0	FAM189B	153484346	0.864000	0.29904	0.987000	0.45799	0.662000	0.39071	2.972000	0.49256	1.242000	0.43836	0.650000	0.86243	CCT		0.617	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		5	11	1	0	5.68852e-11	1	7.05143e-11	5	11				
PCBP2	5094	broad.mit.edu	37	12	53865452	53865452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865452G>A	ENST00000439930.3	+	13	944	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	PCBP2_ENST00000455667.3_Missense_Mutation_p.A261T|PCBP2_ENST00000359462.5_Missense_Mutation_p.A309T|PCBP2_ENST00000447282.1_Missense_Mutation_p.A278T|PCBP2_ENST00000546463.1_Missense_Mutation_p.A305T|PCBP2_ENST00000603815.1_Missense_Mutation_p.A308T|PCBP2_ENST00000548933.1_Missense_Mutation_p.A278T|PCBP2_ENST00000552296.2_Missense_Mutation_p.A304T|PCBP2_ENST00000359282.5_Missense_Mutation_p.A274T|PCBP2_ENST00000552819.1_Missense_Mutation_p.A265T|PCBP2_ENST00000549863.1_Missense_Mutation_p.A264T|PCBP2_ENST00000437231.1_Missense_Mutation_p.A261T			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	308	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GCGTCAAGGCGCCAAAATCAA	0.493																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(922-924)Gcc>Acc		poly(rC) binding protein 2							58.0	48.0	51.0					12																	53865452		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53865452G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.922G>A	12.37:g.53865452G>A	ENSP00000408949:p.Ala308Thr					PCBP2_ENST00000455667.3_Missense_Mutation_p.A261T|PCBP2_ENST00000548933.1_Missense_Mutation_p.A278T|PCBP2_ENST00000359282.5_Missense_Mutation_p.A274T|PCBP2_ENST00000437231.1_Missense_Mutation_p.A261T|PCBP2_ENST00000359462.5_Missense_Mutation_p.A309T|PCBP2_ENST00000552296.2_Missense_Mutation_p.A304T|PCBP2_ENST00000552819.1_Missense_Mutation_p.A265T|PCBP2_ENST00000439930.3_Missense_Mutation_p.A308T|PCBP2_ENST00000447282.1_Missense_Mutation_p.A278T|PCBP2_ENST00000549863.1_Missense_Mutation_p.A264T|PCBP2_ENST00000546463.1_Missense_Mutation_p.A305T	p.A308T	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			14	1272	+			308			KH 3.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.922G>A	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673917	0.29693	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.12	4.19	0.49359	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.052568	0.85682	D	0.000000	T	0.14313	0.0346	N	0.10945	0.07	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.33171	0.002;0.0;0.0;0.4;0.0;0.0;0.011;0.0;0.0;0.008	B;B;B;B;B;B;B;B;B;B	0.27076	0.009;0.002;0.004;0.076;0.002;0.001;0.01;0.001;0.004;0.017	T	0.10042	-1.0647	10	0.10377	T	0.69	.	14.0982	0.65037	0.0:0.0:0.8494:0.1505	.	265;266;308;251;278;261;304;274;309;305	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	T	274;278;261;308;264;309;251;305;304;266;265;261;278;225;138	ENSP00000352228:A274T;ENSP00000394116:A278T;ENSP00000390304:A261T;ENSP00000408949:A308T;ENSP00000447670:A264T;ENSP00000352438:A309T;ENSP00000448762:A305T;ENSP00000448927:A304T;ENSP00000449070:A265T;ENSP00000388008:A261T;ENSP00000449062:A278T	ENSP00000352228:A274T	A	+	1	0	PCBP2	52151719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.291000	0.51764	2.664000	0.90586	0.650000	0.86243	GCC		0.493	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		21	10	0	0	0	1	0	21	10				
ERMP1	79956	broad.mit.edu	37	9	5812154	5812154	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812154C>A	ENST00000339450.5	-	6	1174	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000381506.3_Missense_Mutation_p.R138I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	362						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TGTTAGAATTCTGTCCGCTGT	0.313																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1084-1086)aGa>aTa		endoplasmic reticulum metallopeptidase 1							151.0	156.0	154.0					9																	5812154		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5812154C>A	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1085G>T	9.37:g.5812154C>A	ENSP00000340427:p.Arg362Ile					ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R138I	p.R362I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	6	1174	-		Acute lymphoblastic leukemia(23;0.158)	362					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1085G>T	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244211	0.95272	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T;T	0.50548	0.74;0.74	5.51	5.51	0.81932	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	N	0.21545	0.675	0.80722	D	1	D	0.67145	0.996	D	0.68765	0.96	T	0.48514	-0.9029	10	0.22706	T	0.39	-20.7199	19.4394	0.94811	0.0:1.0:0.0:0.0	.	362	Q7Z2K6	ERMP1_HUMAN	I	362;138	ENSP00000340427:R362I;ENSP00000370917:R138I	ENSP00000340427:R362I	R	-	2	0	ERMP1	5802154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.476000	0.81055	2.581000	0.87130	0.655000	0.94253	AGA		0.313	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		6	92	1	0	0.0293803	1	0.0301098	6	92				
PLXNB1	5364	broad.mit.edu	37	3	48460444	48460444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48460444C>T	ENST00000358536.4	-	13	3106	c.2837G>A	c.(2836-2838)gGc>gAc	p.G946D	PLXNB1_ENST00000296440.6_Missense_Mutation_p.G946D|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G763D|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G763D|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	946					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTCCTGGGCCATCCTGAGG	0.622																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2836-2838)gGc>gAc		plexin B1							67.0	63.0	65.0					3																	48460444		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48460444C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2837G>A	3.37:g.48460444C>T	ENSP00000351338:p.Gly946Asp					PLXNB1_ENST00000358459.4_Missense_Mutation_p.G763D|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G946D|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G763D	p.G946D	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	13	3106	-			946					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.2837G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	1.329	-0.597337	0.03771	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03496	3.91;3.93;3.91;3.93	4.6	3.71	0.42584	.	0.840358	0.10548	N	0.661778	T	0.04182	0.0116	L	0.42245	1.32	0.18873	N	0.999985	B;B	0.24368	0.102;0.0	B;B	0.18263	0.021;0.005	T	0.31280	-0.9949	10	0.32370	T	0.25	.	7.8854	0.29646	0.0:0.8188:0.0:0.1812	.	946;763	O43157;O43157-2	PLXB1_HUMAN;.	D	946;763;946;763	ENSP00000296440:G946D;ENSP00000351242:G763D;ENSP00000351338:G946D;ENSP00000414199:G763D	ENSP00000296440:G946D	G	-	2	0	PLXNB1	48435448	0.073000	0.21202	0.331000	0.25455	0.207000	0.24258	1.383000	0.34385	2.109000	0.64355	0.491000	0.48974	GGC		0.622	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	30	0	0	0	1	0	3	30				
SEMA3E	9723	broad.mit.edu	37	7	83032043	83032043	+	Missense_Mutation	SNP	G	G	A	rs546414937		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83032043G>A	ENST00000307792.3	-	10	1515	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R290W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	350	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGGCTGCCCGAATGCTAGAC	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		15154	0.001		0.0	False		,,,				2504	0.0					ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1048-1050)Cgg>Tgg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							93.0	79.0	84.0					7																	83032043		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83032043G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1048C>T	7.37:g.83032043G>A	ENSP00000303212:p.Arg350Trp					SEMA3E_ENST00000427262.1_Missense_Mutation_p.R290W	p.R350W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			10	1515	-		Medulloblastoma(109;0.109)	350			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1048C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736424	0.69189	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.12255	2.7;2.7	5.41	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	L	0.43152	1.355	0.80722	D	1	D	0.54207	0.965	P	0.47470	0.548	T	0.01039	-1.1472	10	0.45353	T	0.12	.	15.6233	0.76829	0.0:0.0:0.8614:0.1386	.	350	O15041	SEM3E_HUMAN	W	350;290;350	ENSP00000303212:R350W;ENSP00000405052:R290W	ENSP00000303212:R350W	R	-	1	2	SEMA3E	82869979	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.383000	0.59600	1.277000	0.44412	-0.238000	0.12139	CGG		0.408	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		23	44	0	0	0	1	0	23	44				
TUB	7275	broad.mit.edu	37	11	8117155	8117155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117155G>A	ENST00000299506.2	+	5	657	c.508G>A	c.(508-510)Gct>Act	p.A170T	TUB_ENST00000534099.1_Missense_Mutation_p.A176T|TUB_ENST00000305253.4_Missense_Mutation_p.A225T	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	170					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGAGACGGCAGCTGGTGGGGG	0.652																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(673-675)Gct>Act		tubby bipartite transcription factor							22.0	25.0	24.0					11																	8117155		2198	4293	6491	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8117155G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.508G>A	11.37:g.8117155G>A	ENSP00000299506:p.Ala170Thr					TUB_ENST00000534099.1_Missense_Mutation_p.A176T|TUB_ENST00000299506.2_Missense_Mutation_p.A170T	p.A225T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	6	914	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	170					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.673G>A	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308201	0.40895	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.85702	-2.0;-2.02;-1.99	5.38	4.47	0.54385	Tubby, N-terminal (1);	0.343078	0.34959	N	0.003546	T	0.79009	0.4374	L	0.42245	1.32	0.45528	D	0.998484	B;B;P	0.41848	0.031;0.04;0.763	B;B;B	0.39840	0.012;0.008;0.311	T	0.74751	-0.3559	10	0.16420	T	0.52	-19.7639	13.0673	0.59041	0.0793:0.0:0.9207:0.0	.	176;170;225	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	T	176;225;170	ENSP00000434400:A176T;ENSP00000305426:A225T;ENSP00000299506:A170T	ENSP00000299506:A170T	A	+	1	0	TUB	8073731	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.683000	0.54663	1.280000	0.44463	0.561000	0.74099	GCT		0.652	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		8	5	0	0	0	1	0	8	5				
LEFTY2	7044	broad.mit.edu	37	1	226125267	226125267	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226125267G>T	ENST00000366820.5	-	4	1323	c.975C>A	c.(973-975)ccC>ccA	p.P325P	LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Silent_p.P291P|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	325					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGACGATCATGGGCAGCGAGG	0.657																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(973-975)ccC>ccA		left-right determination factor 2							41.0	40.0	40.0					1																	226125267		2203	4300	6503	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125267G>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.975C>A	1.37:g.226125267G>T						LEFTY2_ENST00000420304.2_Silent_p.P291P	p.P325P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			4	1323	-	Breast(184;0.197)		325					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.975C>A	CCDS1549.1																																																																																				0.657	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		4	45	1	0	0.014758	1	0.0152625	4	45				
FNDC3A	22862	broad.mit.edu	37	13	49741399	49741399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49741399A>G	ENST00000492622.2	+	9	1302	c.997A>G	c.(997-999)Act>Gct	p.T333A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.T333A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T277A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	333	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AACAAATATCACTTTAAATGA	0.313																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(997-999)Act>Gct		fibronectin type III domain containing 3A							64.0	65.0	65.0					13																	49741399		2203	4294	6497	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49741399A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.997A>G	13.37:g.49741399A>G	ENSP00000417257:p.Thr333Ala					FNDC3A_ENST00000541916.1_Missense_Mutation_p.T333A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T277A	p.T333A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	9	1302	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	333			Fibronectin type-III 1.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.997A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069650	0.36470	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.61158	0.13;0.13;0.13	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.52092	0.1713	M	0.64997	1.995	0.54753	D	0.999985	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.15052	0.007;0.007;0.012	T	0.48340	-0.9044	10	0.13108	T	0.6	-7.4932	12.7941	0.57551	1.0:0.0:0.0:0.0	.	277;333;333	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	A	333;269;333;277	ENSP00000417257:T333A;ENSP00000441831:T333A;ENSP00000381362:T277A	ENSP00000338579:T269A	T	+	1	0	FNDC3A	48639400	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.966000	0.63715	1.965000	0.57142	0.455000	0.32223	ACT		0.313	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		6	45	0	0	0	1	0	6	45				
KRT78	196374	broad.mit.edu	37	12	53242560	53242560	+	Missense_Mutation	SNP	C	C	T	rs201936904		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242560C>T	ENST00000304620.4	-	1	218	c.155G>A	c.(154-156)cGt>cAt	p.R52H	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	52	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTACTCCCACGAGAGCCTTC	0.672																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(154-156)cGt>cAt		keratin 78		C	HIS/ARG	0,4406		0,0,2203	19.0	22.0	21.0		155	2.0	0.0	12		21	1,8597		0,1,4298	yes	missense	KRT78	NM_173352.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	52/521	53242560	1,13003	2203	4299	6502	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242560C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.155G>A	12.37:g.53242560C>T	ENSP00000306261:p.Arg52His						p.R52H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	218	-			52			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.155G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268895	0.23221	0.0	1.16E-4	ENSG00000170423	ENST00000304620	T	0.75367	-0.93	4.95	2.05	0.26809	.	.	.	.	.	T	0.62295	0.2416	L	0.53729	1.69	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.44483	-0.9325	9	0.15499	T	0.54	.	4.0955	0.09988	0.1689:0.574:0.0:0.2571	.	52	Q8N1N4	K2C78_HUMAN	H	52	ENSP00000306261:R52H	ENSP00000306261:R52H	R	-	2	0	KRT78	51528827	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.380000	0.20602	0.583000	0.29574	0.491000	0.48974	CGT		0.672	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		6	10	0	0	0	1	0	6	10				
FMO3	2328	broad.mit.edu	37	1	171080085	171080085	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171080085G>T	ENST00000367755.4	+	6	885	c.774G>T	c.(772-774)aaG>aaT	p.K258N	FMO3_ENST00000392085.2_Missense_Mutation_p.K258N|FMO3_ENST00000538429.1_Missense_Mutation_p.K195N|FMO3_ENST00000542847.1_Missense_Mutation_p.K238N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	258					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGTACGTGAAGCAGATGAATG	0.448																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(772-774)aaG>aaT		flavin containing monooxygenase 3							167.0	148.0	154.0					1																	171080085		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171080085G>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.774G>T	1.37:g.171080085G>T	ENSP00000356729:p.Lys258Asn					FMO3_ENST00000542847.1_Missense_Mutation_p.K238N|FMO3_ENST00000538429.1_Missense_Mutation_p.K195N|FMO3_ENST00000392085.2_Missense_Mutation_p.K258N	p.K258N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			6	885	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		258					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.774G>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254938	0.22965	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.82	1.95	0.26073	.	0.313144	0.37955	N	0.001869	T	0.26340	0.0643	L	0.39514	1.22	0.20764	N	0.999853	P;B;B	0.44429	0.835;0.071;0.049	P;B;B	0.48400	0.576;0.071;0.12	T	0.10965	-1.0607	10	0.29301	T	0.29	-9.8789	4.9481	0.14000	0.231:0.0:0.6217:0.1473	.	195;238;258	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	N	258;258;238;195	ENSP00000356729:K258N;ENSP00000375935:K258N;ENSP00000444073:K238N;ENSP00000439500:K195N	ENSP00000356729:K258N	K	+	3	2	FMO3	169346709	0.000000	0.05858	0.868000	0.34077	0.672000	0.39443	-0.076000	0.11412	0.246000	0.21394	-0.145000	0.13849	AAG		0.448	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		16	108	1	0	4.14922e-12	1	5.2041e-12	16	108				
ARID1B	57492	broad.mit.edu	37	6	157502224	157502224	+	Missense_Mutation	SNP	C	C	T	rs377588212		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502224C>T	ENST00000350026.5	+	11	3219	c.3218C>T	c.(3217-3219)cCt>cTt	p.P1073L	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1068L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1126L|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1086L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1073	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGGCTCTCCTGTCTCAAGT	0.562																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3256-3258)cCt>cTt		AT rich interactive domain 1B (SWI1-like)		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	83.0	73.0	76.0		3218,3257	5.8	0.9	6		76	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ARID1B	NM_017519.2,NM_020732.3	98,98	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1073/2237,1086/2250	157502224	1,12997	2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502224C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3218C>T	6.37:g.157502224C>T	ENSP00000055163:p.Pro1073Leu					ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1073L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1068L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1126L	p.P1086L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3258	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1073			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3257C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119475	0.77323	0.0	1.16E-4	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.76	5.76	0.90799	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.975;0.976;0.96;0.96	T	0.75059	-0.3451	10	0.48119	T	0.1	.	19.9719	0.97287	0.0:1.0:0.0:0.0	.	323;1073;1086;1068	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	1086;1073;1126;1068;543;595;548;140	ENSP00000344546:P1086L;ENSP00000055163:P1073L;ENSP00000356116:P1126L;ENSP00000275248:P1068L;ENSP00000412835:P595L;ENSP00000313006:P548L;ENSP00000383596:P140L	ENSP00000275248:P1068L	P	+	2	0	ARID1B	157543916	1.000000	0.71417	0.942000	0.38095	0.817000	0.46193	5.071000	0.64382	2.718000	0.92993	0.650000	0.86243	CCT		0.562	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		17	33	0	0	0	1	0	17	33				
MYH1	4619	broad.mit.edu	37	17	10404994	10404994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10404994A>G	ENST00000226207.5	-	26	3359	c.3265T>C	c.(3265-3267)Ttt>Ctt	p.F1089L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1089					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATTTCAAACTCTTTCCTA	0.358																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3265-3267)Ttt>Ctt		myosin, heavy chain 1, skeletal muscle, adult							94.0	89.0	91.0					17																	10404994		2203	4299	6502	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404994A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3265T>C	17.37:g.10404994A>G	ENSP00000226207:p.Phe1089Leu					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.F1089L	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			26	3359	-			1089					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3265T>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684913	0.88639	.	.	ENSG00000109061	ENST00000226207	D	0.82344	-1.6	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.44688	U	0.000440	D	0.87438	0.6177	M	0.88105	2.93	0.80722	D	1	B	0.24618	0.107	B	0.34418	0.182	D	0.85549	0.1220	10	0.38643	T	0.18	.	15.9255	0.79611	1.0:0.0:0.0:0.0	.	1089	P12882	MYH1_HUMAN	L	1089	ENSP00000226207:F1089L	ENSP00000226207:F1089L	F	-	1	0	MYH1	10345719	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.124000	0.77185	2.221000	0.72209	0.528000	0.53228	TTT		0.358	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		16	35	0	0	0	1	0	16	35				
SAMHD1	25939	broad.mit.edu	37	20	35559184	35559184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35559184C>T	ENST00000262878.4	-	5	803	c.604G>A	c.(604-606)Gct>Act	p.A202T	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	202	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAAAGTCCAGCAATCTGAACA	0.413																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(604-606)Gct>Act		SAM domain and HD domain 1							194.0	176.0	182.0					20																	35559184		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35559184C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.604G>A	20.37:g.35559184C>T	ENSP00000262878:p.Ala202Thr					SAMHD1_ENST00000373694.5_5'UTR	p.A202T	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			5	803	-		Myeloproliferative disorder(115;0.00878)	202			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.604G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314798	0.95655	.	.	ENSG00000101347	ENST00000262878	D	0.99105	-5.43	6.02	5.07	0.68467	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98302	1.0519	10	0.87932	D	0	-20.8614	16.6466	0.85178	0.131:0.869:0.0:0.0	.	202	Q9Y3Z3	SAMH1_HUMAN	T	202	ENSP00000262878:A202T	ENSP00000262878:A202T	A	-	1	0	SAMHD1	34992598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.524000	0.49035	0.650000	0.86243	GCT		0.413	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		12	115	0	0	0	1	0	12	115				
NEBL	10529	broad.mit.edu	37	10	21074810	21074810	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21074810C>A	ENST00000377122.4	-	28	3307	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	NEBL_ENST00000417816.2_Missense_Mutation_p.D227Y|NEBL_ENST00000377159.4_Missense_Mutation_p.D193Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	971	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGACCTCGTCTTCATCCTGG	0.498																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2911-2913)Gac>Tac		nebulette							137.0	115.0	123.0					10																	21074810		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21074810C>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2911G>T	10.37:g.21074810C>A	ENSP00000366326:p.Asp971Tyr					NEBL_ENST00000417816.2_Missense_Mutation_p.D227Y|NEBL_ENST00000377159.4_Missense_Mutation_p.D193Y	p.D971Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			28	3307	-			971			SH3.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2911G>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464965	0.84425	.	.	ENSG00000078114	ENST00000377122;ENST00000417816;ENST00000377159	T;T;T	0.60299	0.2;0.2;0.2	5.74	5.74	0.90152	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.83381	0.5242	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87007	0.2120	10	0.87932	D	0	.	19.9306	0.97117	0.0:1.0:0.0:0.0	.	227;971	Q70I54;O76041	.;NEBL_HUMAN	Y	971;227;193	ENSP00000366326:D971Y;ENSP00000393896:D227Y;ENSP00000366364:D193Y	ENSP00000366326:D971Y	D	-	1	0	NEBL	21114816	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.818000	0.86416	2.732000	0.93576	0.591000	0.81541	GAC		0.498	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		16	32	1	0	1.99824e-07	1	2.35189e-07	16	32				
AHNAK	79026	broad.mit.edu	37	11	62299568	62299568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62299568G>A	ENST00000378024.4	-	5	2595	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	774					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGCCTTGGGCAGGTTCAC	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2320-2322)cCc>cTc		AHNAK nucleoprotein							144.0	150.0	148.0					11																	62299568		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299568G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2321C>T	11.37:g.62299568G>A	ENSP00000367263:p.Pro774Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P774L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2595	-		Melanoma(852;0.155)	774					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2321C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887035	0.72410	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000043	T	0.41143	0.1146	H	0.97077	3.935	0.45704	D	0.998617	D	0.69078	0.997	D	0.79108	0.992	T	0.60475	-0.7256	10	0.66056	D	0.02	-8.1026	18.9085	0.92472	0.0:0.0:1.0:0.0	.	774	Q09666	AHNK_HUMAN	L	774	ENSP00000367263:P774L	ENSP00000367263:P774L	P	-	2	0	AHNAK	62056144	0.986000	0.35501	0.859000	0.33776	0.899000	0.52679	3.940000	0.56599	2.580000	0.87095	0.455000	0.32223	CCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		59	128	0	0	0	1	0	59	128				
DOK1	1796	broad.mit.edu	37	2	74783985	74783985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74783985G>A	ENST00000233668.5	+	5	1859	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.G258D|LOXL3_ENST00000409986.1_5'Flank|LOXL3_ENST00000393937.2_5'Flank|M1AP_ENST00000464686.1_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	397	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGAGGAGGGCTATGAGCTC	0.647																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1189-1191)gGc>gAc		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							100.0	101.0	101.0					2																	74783985		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783985G>A	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1190G>A	2.37:g.74783985G>A	ENSP00000233668:p.Gly397Asp					DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.G258D	p.G397D	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			5	1859	+			397			Pro-rich.		O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.1190G>A	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029643	0.75504	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.45276	0.9;0.95	4.95	4.95	0.65309	.	0.144192	0.46145	D	0.000317	T	0.63070	0.2480	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59231	-0.7493	10	0.25751	T	0.34	-22.2097	15.7278	0.77777	0.0:0.0:1.0:0.0	.	386;397	B4DJN1;Q99704	.;DOK1_HUMAN	D	258;397	ENSP00000387016:G258D;ENSP00000233668:G397D	ENSP00000233668:G397D	G	+	2	0	DOK1	74637493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.114000	0.64648	2.580000	0.87095	0.561000	0.74099	GGC		0.647	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		7	140	0	0	0	1	0	7	140				
KIAA0101	9768	broad.mit.edu	37	15	64658213	64658213	+	3'UTR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64658213G>T	ENST00000300035.4	-	0	490				CTD-2116N17.1_ENST00000558783.1_Intron|KIAA0101_ENST00000559519.1_3'UTR|KIAA0101_ENST00000558008.1_3'UTR|KIAA0101_ENST00000380258.2_Silent_p.I63I|CTD-2116N17.1_ENST00000606793.1_Intron	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101						cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GTTATTCAAAGATGAATGAGA	0.328																																						ENST00000380258.2																			0				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(187-189)atC>atA		KIAA0101							99.0	90.0	93.0					15																	64658213		2203	4299	6502	SO:0001624	3_prime_UTR_variant	9768					mitochondrion|nucleus		g.chr15:64658213G>T	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.*16C>A	15.37:g.64658213G>T						KIAA0101_ENST00000300035.4_3'UTR|CTD-2116N17.1_ENST00000606793.1_Intron|KIAA0101_ENST00000558008.1_3'UTR|KIAA0101_ENST00000559519.1_3'UTR|KIAA0101_ENST00000560234.1_3'UTR	p.I63I	NM_001029989.1	NP_001025160.1	Q15004	PAF_HUMAN			3	261	-			0					A6NNU5|A8K3Y3|G9G694|G9G696	Silent	SNP	ENST00000300035.4	37	c.189C>A	CCDS10193.1																																																																																				0.328	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		17	25	1	0	0.000422831	1	0.000460248	17	25				
FAM83C	128876	broad.mit.edu	37	20	33875125	33875125	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33875125C>T	ENST00000374408.3	-	4	1553	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	486										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTTGTGCCAGGTACCCA	0.632																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1456-1458)gGc>gAc		family with sequence similarity 83, member C							41.0	40.0	41.0					20																	33875125		2167	4255	6422	SO:0001583	missense	128876							g.chr20:33875125C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1457G>A	20.37:g.33875125C>T	ENSP00000363529:p.Gly486Asp						p.G486D	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1553	-			486					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1457G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	6.444	0.450095	0.12223	.	.	ENSG00000125998	ENST00000374408	T	0.07688	3.17	4.29	3.26	0.37387	.	0.537515	0.19700	N	0.108077	T	0.09730	0.0239	M	0.64997	1.995	0.09310	N	1	P	0.48162	0.906	B	0.38562	0.276	T	0.22836	-1.0205	10	0.44086	T	0.13	-9.2215	11.7556	0.51874	0.0:0.8209:0.1791:0.0	.	486	Q9BQN1	FA83C_HUMAN	D	486	ENSP00000363529:G486D	ENSP00000363529:G486D	G	-	2	0	FAM83C	33338539	0.250000	0.23951	0.425000	0.26659	0.036000	0.12997	1.125000	0.31332	2.403000	0.81681	0.561000	0.74099	GGC		0.632	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			28	38	0	0	0	1	0	28	38				
CWH43	80157	broad.mit.edu	37	4	49005809	49005809	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:49005809G>A	ENST00000226432.4	+	7	1043	c.860G>A	c.(859-861)gGc>gAc	p.G287D	CWH43_ENST00000513409.1_Missense_Mutation_p.G260D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	287					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTGGCTGTGTCTTC	0.512																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(859-861)gGc>gAc		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							98.0	86.0	90.0					4																	49005809		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49005809G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.860G>A	4.37:g.49005809G>A	ENSP00000226432:p.Gly287Asp					CWH43_ENST00000513409.1_Missense_Mutation_p.G260D	p.G287D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			7	1043	+			287					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.860G>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213782	0.39102	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.60920	0.77;0.15	3.91	3.91	0.45181	.	0.000000	0.53938	D	0.000045	T	0.73583	0.3605	M	0.69823	2.125	0.38237	D	0.941211	D	0.89917	1.0	D	0.97110	1.0	T	0.76950	-0.2769	9	.	.	.	.	15.3556	0.74425	0.0:0.0:1.0:0.0	.	287	Q9H720	PG2IP_HUMAN	D	287;260	ENSP00000226432:G287D;ENSP00000422802:G260D	.	G	+	2	0	CWH43	48700566	1.000000	0.71417	0.158000	0.22627	0.006000	0.05464	5.830000	0.69324	2.480000	0.83734	0.591000	0.81541	GGC		0.512	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		36	56	0	0	0	1	0	36	56				
ACSBG2	81616	broad.mit.edu	37	19	6147597	6147597	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6147597C>A	ENST00000586696.1	+	3	484	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	ACSBG2_ENST00000588304.1_Missense_Mutation_p.L20I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L70I|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L70I|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	70					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATCCAGCCCTCGCATCCAA	0.463																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(58-60)Ctc>Atc		acyl-CoA synthetase bubblegum family member 2							169.0	169.0	169.0					19																	6147597		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6147597C>A		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.208C>A	19.37:g.6147597C>A	ENSP00000465589:p.Leu70Ile					ACSBG2_ENST00000586696.1_Missense_Mutation_p.L70I|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L70I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L70I|ACSBG2_ENST00000588485.1_5'UTR	p.L20I			Q5FVE4	ACBG2_HUMAN			3	504	+			70					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.58C>A	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675761	0.67928	.	.	ENSG00000130377	ENST00000252669	T	0.48201	0.82	5.64	3.45	0.39498	.	0.189753	0.26122	N	0.026202	T	0.65015	0.2651	M	0.80746	2.51	0.53005	D	0.99996	P;D	0.65815	0.947;0.995	P;P	0.58013	0.831;0.831	T	0.70880	-0.4752	10	0.87932	D	0	-25.1385	14.1434	0.65334	0.0:0.7136:0.2864:0.0	.	70;70	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	I	70	ENSP00000252669:L70I	ENSP00000252669:L70I	L	+	1	0	ACSBG2	6098597	0.746000	0.28272	0.145000	0.22337	0.021000	0.10359	1.346000	0.33964	0.701000	0.31803	-0.165000	0.13383	CTC		0.463	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		9	189	1	0	0.000442599	1	0.00048047	9	189				
VPS13D	55187	broad.mit.edu	37	1	12418629	12418629	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12418629A>G	ENST00000358136.3	+	50	10243	c.10113A>G	c.(10111-10113)ggA>ggG	p.G3371G	VPS13D_ENST00000356315.4_Silent_p.G3346G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCAGCAAGGAAACCGCCCAG	0.552																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10111-10113)ggA>ggG		vacuolar protein sorting 13 homolog D (S. cerevisiae)							108.0	103.0	105.0					1																	12418629		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12418629A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10113A>G	1.37:g.12418629A>G						VPS13D_ENST00000356315.4_Silent_p.G3346G	p.G3371G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	50	10243	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3370						Silent	SNP	ENST00000358136.3	37	c.10113A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	9.586	1.124957	0.20959	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.17	5.05	0.67936	.	.	.	.	.	T	0.62660	0.2446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60219	-0.7306	4	.	.	.	.	10.9	0.47045	0.9296:0.0:0.0704:0.0	.	.	.	.	G	2193	.	.	E	+	2	0	VPS13D	12341216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.282000	0.33226	1.149000	0.42402	0.533000	0.62120	GAA		0.552	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		18	25	0	0	0	1	0	18	25				
NACA	4666	broad.mit.edu	37	12	57115005	57115005	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57115005T>C	ENST00000454682.1	-	3	590	c.309A>G	c.(307-309)ctA>ctG	p.L103L	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Silent_p.L103L	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	103	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTAGGTTTGGTAGGAAGGTTG	0.547			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(307-309)ctA>ctG		nascent polypeptide-associated complex alpha subunit							74.0	74.0	74.0					12																	57115005		1568	3582	5150	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57115005T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.309A>G	12.37:g.57115005T>C						NACA_ENST00000550952.1_Silent_p.L103L|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	p.L103L	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	590	-			35			NAC-A/B.			Silent	SNP	ENST00000454682.1	37	c.309A>G																																																																																					0.547	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	34	0	0	0	1	0	4	34				
PTGER3	5733	broad.mit.edu	37	1	71512530	71512530	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512530A>G	ENST00000306666.5	-	1	941	c.731T>C	c.(730-732)gTc>gCc	p.V244A	PTGER3_ENST00000370931.3_Missense_Mutation_p.V244A|PTGER3_ENST00000370924.4_Missense_Mutation_p.V244A|PTGER3_ENST00000460330.1_Missense_Mutation_p.V244A|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000356595.4_Missense_Mutation_p.V244A|PTGER3_ENST00000351052.5_Missense_Mutation_p.V244A|PTGER3_ENST00000414819.1_Missense_Mutation_p.V244A|PTGER3_ENST00000370932.2_Missense_Mutation_p.V244A|PTGER3_ENST00000354608.5_Missense_Mutation_p.V244A	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	244					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GGAAAAGGTGACTGTCAGCGC	0.637																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(730-732)gTc>gCc		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						92.0	89.0	90.0					1																	71512530		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512530A>G	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.731T>C	1.37:g.71512530A>G	ENSP00000302313:p.Val244Ala					PTGER3_ENST00000354608.5_Missense_Mutation_p.V244A|PTGER3_ENST00000356595.4_Missense_Mutation_p.V244A|PTGER3_ENST00000370932.2_Missense_Mutation_p.V244A|PTGER3_ENST00000306666.5_Missense_Mutation_p.V244A|PTGER3_ENST00000351052.5_Missense_Mutation_p.V244A|PTGER3_ENST00000414819.1_Missense_Mutation_p.V244A|PTGER3_ENST00000370931.3_Missense_Mutation_p.V244A|PTGER3_ENST00000460330.1_Missense_Mutation_p.V244A	p.V244A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	961	-			244					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.731T>C	CCDS657.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294403	0.40594	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.184989	0.47455	D	0.000234	T	0.13286	0.0322	L	0.28115	0.83	0.53688	D	0.999975	B;B;B;B;P;B;B;B	0.38863	0.36;0.057;0.121;0.36;0.65;0.046;0.15;0.181	B;B;B;B;B;B;B;B	0.35353	0.151;0.061;0.059;0.098;0.201;0.036;0.059;0.098	T	0.05370	-1.0889	10	0.19147	T	0.46	-28.1575	9.5332	0.39207	0.9217:0.0:0.0783:0.0	.	244;244;244;244;244;244;244;244	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	A	244	ENSP00000359969:V244A;ENSP00000359970:V244A;ENSP00000280208:V244A;ENSP00000418073:V244A;ENSP00000346624:V244A;ENSP00000349003:V244A;ENSP00000401423:V244A;ENSP00000302313:V244A;ENSP00000359962:V244A	ENSP00000302313:V244A	V	-	2	0	PTGER3	71285118	0.993000	0.37304	0.896000	0.35187	0.905000	0.53344	6.071000	0.71229	2.136000	0.66102	0.379000	0.24179	GTC		0.637	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		27	52	0	0	0	1	0	27	52				
SMC1A	8243	broad.mit.edu	37	X	53440256	53440256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53440256C>T	ENST00000322213.4	-	4	668	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	181					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AACTGTGTGTCCTCTTCAGCC	0.483																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(541-543)Gac>Aac		structural maintenance of chromosomes 1A							236.0	207.0	217.0					X																	53440256		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53440256C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.541G>A	X.37:g.53440256C>T	ENSP00000323421:p.Asp181Asn					SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.D181N	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			4	668	-			181					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.541G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999338	0.74818	.	.	ENSG00000072501	ENST00000322213;ENST00000340213	T	0.76968	-1.06	4.52	4.52	0.55395	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	N	0.16233	0.39	0.80722	D	1	P;P;P	0.41475	0.671;0.751;0.751	B;P;P	0.49047	0.302;0.599;0.599	T	0.73199	-0.4058	10	0.35671	T	0.21	.	15.5515	0.76155	0.0:1.0:0.0:0.0	.	159;181;181	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	N	181;180	ENSP00000323421:D181N	ENSP00000323421:D181N	D	-	1	0	SMC1A	53456981	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.032000	0.70918	1.998000	0.58463	0.436000	0.28706	GAC		0.483	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		41	87	0	0	0	1	0	41	87				
FEZ1	9638	broad.mit.edu	37	11	125359496	125359496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125359496C>A	ENST00000278919.3	-	2	412	c.178G>T	c.(178-180)Gag>Tag	p.E60*	FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E60*|FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E60*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	60					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACGAGGTCCTCCATGGACTTG	0.483																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(178-180)Gag>Tag		fasciculation and elongation protein zeta 1 (zygin I)							83.0	87.0	85.0					11																	125359496		2201	4299	6500	SO:0001587	stop_gained	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359496C>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.178G>T	11.37:g.125359496C>A	ENSP00000278919:p.Glu60*					FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E60*|FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E60*	p.E60*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	412	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	60					O00679|O00728|Q6IBI7	Nonsense_Mutation	SNP	ENST00000278919.3	37	c.178G>T	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	37	6.080421	0.97267	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	.	.	.	5.21	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.2534	15.0317	0.71713	0.1436:0.8564:0.0:0.0	.	.	.	.	X	60	.	ENSP00000278919:E60X	E	-	1	0	FEZ1	124864706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.628000	0.83189	1.316000	0.45131	0.650000	0.86243	GAG		0.483	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		14	81	1	0	0.00185496	1	0.00197886	14	81				
ITPR3	3710	broad.mit.edu	37	6	33663346	33663346	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33663346C>T	ENST00000374316.5	+	59	9007				ITPR3_ENST00000605930.1_Intron|SBP1_ENST00000594414.1_Silent_p.G43G|MIR3934_ENST00000579806.1_RNA			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTTAAAGCACCCCGAGGGGC	0.592																																						ENST00000594414.1																			0											c.(127-129)ggG>ggA									12.0	14.0	13.0					6																	33663346		691	1587	2278	SO:0001627	intron_variant	0							g.chr6:33663346C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7948-143C>T	6.37:g.33663346C>T						ITPR3_ENST00000605930.1_Intron|ITPR3_ENST00000374316.5_Intron	p.G43G							1	128	-								Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.129G>A	CCDS4783.1																																																																																				0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	12	0	0	0	1	0	7	12				
PRICKLE2	166336	broad.mit.edu	37	3	64085353	64085353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64085353C>T	ENST00000295902.6	-	8	2494	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G693R|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	637					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCATCCTTCCGTGGGACTGC	0.602																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1909-1911)Gga>Aga		prickle homolog 2 (Drosophila)							102.0	92.0	95.0					3																	64085353		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085353C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1909G>A	3.37:g.64085353C>T	ENSP00000295902:p.Gly637Arg					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G693R|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	p.G637R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2494	-		Lung NSC(201;0.136)	637					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1909G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011227	0.35511	.	.	ENSG00000163637	ENST00000295902	D	0.84730	-1.89	5.62	5.62	0.85841	.	0.268025	0.32655	N	0.005802	T	0.80954	0.4723	L	0.43152	1.355	0.25176	N	0.99024	B	0.15719	0.014	B	0.06405	0.002	T	0.72707	-0.4212	10	0.62326	D	0.03	-15.7456	14.4935	0.67667	0.1468:0.8532:0.0:0.0	.	637	Q7Z3G6	PRIC2_HUMAN	R	637	ENSP00000295902:G637R	ENSP00000295902:G637R	G	-	1	0	PRICKLE2	64060393	0.171000	0.23029	0.857000	0.33713	0.994000	0.84299	3.246000	0.51414	2.655000	0.90218	0.591000	0.81541	GGA		0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		30	45	0	0	0	1	0	30	45				
SCN8A	6334	broad.mit.edu	37	12	52100384	52100384	+	Missense_Mutation	SNP	A	A	G	rs371383623		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52100384A>G	ENST00000354534.6	+	11	1698	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	SCN8A_ENST00000550891.1_Missense_Mutation_p.E507G|SCN8A_ENST00000545061.1_Missense_Mutation_p.E507G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	507					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCTGAAGGAGAGGAGAAAGGG	0.468																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1519-1521)gAg>gGg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						43.0	43.0	43.0					12																	52100384		1899	4119	6018	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52100384A>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1520A>G	12.37:g.52100384A>G	ENSP00000346534:p.Glu507Gly					SCN8A_ENST00000545061.1_Missense_Mutation_p.E507G|SCN8A_ENST00000550891.1_Missense_Mutation_p.E507G	p.E507G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	11	1698	+			507					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1520A>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942656	0.34283	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	4.41	3.22	0.36961	Domain of unknown function DUF3451 (1);	0.186318	0.46758	D	0.000280	D	0.85906	0.5806	L	0.56769	1.78	0.52099	D	0.999943	B;B;B;B	0.33549	0.003;0.417;0.13;0.002	B;B;B;B	0.30495	0.01;0.116;0.015;0.006	T	0.80018	-0.1558	10	0.21014	T	0.42	.	10.3582	0.43977	0.8528:0.0:0.0:0.1472	.	507;507;507;507	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	G	507;507;507;507;420;305	ENSP00000448415:E507G;ENSP00000346534:E507G;ENSP00000440360:E507G;ENSP00000347255:E507G;ENSP00000447567:E305G	ENSP00000346534:E507G	E	+	2	0	SCN8A	50386651	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.202000	0.77856	0.794000	0.33899	0.379000	0.24179	GAG		0.468	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	7	0	0	0	1	0	4	7				
KRT84	3890	broad.mit.edu	37	12	52779359	52779359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779359C>T	ENST00000257951.3	-	1	77	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	4	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGGTAGGAGCGGCAAGACAT	0.572																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(10-12)cGc>cAc		keratin 84							66.0	72.0	70.0					12																	52779359		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52779359C>T	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.11G>A	12.37:g.52779359C>T	ENSP00000257951:p.Arg4His					RP3-416H24.4_ENST00000547174.1_RNA	p.R4H	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	77	-	all_hematologic(5;0.12)		4			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.11G>A	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818983	0.50633	.	.	ENSG00000161849	ENST00000257951	D	0.83250	-1.7	5.06	5.06	0.68205	.	0.461523	0.18671	N	0.134428	T	0.72078	0.3416	L	0.28400	0.85	0.31932	N	0.612084	B	0.25486	0.127	B	0.15052	0.012	T	0.72557	-0.4257	10	0.48119	T	0.1	.	9.5811	0.39488	0.0:0.8443:0.0:0.1557	.	4	Q9NSB2	KRT84_HUMAN	H	4	ENSP00000257951:R4H	ENSP00000257951:R4H	R	-	2	0	KRT84	51065626	0.003000	0.15002	1.000000	0.80357	0.592000	0.36648	-0.042000	0.12063	2.802000	0.96397	0.543000	0.68304	CGC		0.572	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		26	56	0	0	0	1	0	26	56				
PRDM10	56980	broad.mit.edu	37	11	129787027	129787027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129787027C>T	ENST00000360871.3	-	15	2551	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	PRDM10_ENST00000528746.1_Missense_Mutation_p.D748N|PRDM10_ENST00000304538.6_Missense_Mutation_p.D688N|PRDM10_ENST00000358825.5_Missense_Mutation_p.D778N|PRDM10_ENST00000526082.1_Missense_Mutation_p.D692N|PRDM10_ENST00000423662.2_Missense_Mutation_p.D692N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	778					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.D774N(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTACCTTATCGCAATACTGA	0.378																																						ENST00000358825.5																			1	Substitution - Missense(1)	p.D774N(1)	large_intestine(1)	breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2332-2334)Gat>Aat		PR domain containing 10							174.0	157.0	163.0					11																	129787027		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129787027C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2320G>A	11.37:g.129787027C>T	ENSP00000354118:p.Asp774Asn					PRDM10_ENST00000304538.6_Missense_Mutation_p.D688N|PRDM10_ENST00000360871.3_Missense_Mutation_p.D774N|PRDM10_ENST00000526082.1_Missense_Mutation_p.D692N|PRDM10_ENST00000423662.2_Missense_Mutation_p.D692N|PRDM10_ENST00000528746.1_Missense_Mutation_p.D748N	p.D778N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	16	2563	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	778					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2332G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780475	0.49891	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;2.8;1.6;2.8;1.6	5.52	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	N	0.19112	0.55	0.54753	D	0.999983	D;D;D;D;D;D	0.69078	0.996;0.995;0.996;0.995;0.997;0.995	P;P;P;P;P;P	0.60117	0.869;0.794;0.869;0.794;0.689;0.794	T	0.35847	-0.9772	10	0.66056	D	0.02	-26.986	15.8563	0.78979	0.1366:0.8634:0.0:0.0	.	688;774;778;692;688;692	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	N	778;688;774;692;748;692;491	ENSP00000351686:D778N;ENSP00000302669:D688N;ENSP00000354118:D774N;ENSP00000398431:D692N;ENSP00000431262:D748N;ENSP00000432237:D692N;ENSP00000435940:D491N	ENSP00000302669:D688N	D	-	1	0	PRDM10	129292237	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	7.268000	0.78473	1.331000	0.45412	-0.152000	0.13540	GAT		0.378	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		25	37	0	0	0	1	0	25	37				
GNAI2	2771	broad.mit.edu	37	3	50294242	50294242	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50294242C>A	ENST00000313601.6	+	6	1065	c.681C>A	c.(679-681)gcC>gcA	p.A227A	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.A190A|GNAI2_ENST00000266027.5_Silent_p.A211A|GNAI2_ENST00000440628.1_Silent_p.A175A|GNAI2_ENST00000536647.1_Silent_p.A146A|GNAI2_ENST00000422163.1_Silent_p.A211A	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	227					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGCGTAGCCTTGAGCGCCT	0.572																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(679-681)gcC>gcA		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							146.0	136.0	140.0					3																	50294242		2203	4300	6503	SO:0001819	synonymous_variant	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50294242C>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.681C>A	3.37:g.50294242C>A						GNAI2_ENST00000422163.1_Silent_p.A211A|GNAI2_ENST00000266027.5_Silent_p.A211A|GNAI2_ENST00000440628.1_Silent_p.A175A|GNAI2_ENST00000451956.1_Silent_p.A190A|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Silent_p.A146A	p.A227A	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	6	1065	+			227					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	c.681C>A	CCDS2813.1																																																																																				0.572	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		16	59	1	0	2.32078e-09	1	2.82054e-09	16	59				
NUP107	57122	broad.mit.edu	37	12	69083346	69083346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69083346C>A	ENST00000229179.4	+	3	466	c.134C>A	c.(133-135)aCt>aAt	p.T45N	NUP107_ENST00000539906.1_Missense_Mutation_p.L7I|RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000378905.2_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	45					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTGGTAATACTACACCAAGA	0.328																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(133-135)aCt>aAt		nucleoporin 107kDa							118.0	117.0	117.0					12																	69083346		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69083346C>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.134C>A	12.37:g.69083346C>A	ENSP00000229179:p.Thr45Asn					NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.L7I	p.T45N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		3	466	+	Breast(13;6.25e-06)		45					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.134C>A	CCDS8985.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.954|9.954	1.220856|1.220856	0.22457|0.22457	.|.	.|.	ENSG00000111581|ENSG00000111581	ENST00000539906|ENST00000229179	.|.	.|.	.|.	5.61|5.61	-0.66|-0.66	0.11421|0.11421	.|.	.|0.561041	.|0.20364	.|N	.|0.093794	T|T	0.28167|0.28167	0.0695|0.0695	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	0.999994|0.999994	B|B	0.09022|0.21688	0.002|0.059	B|B	0.11329|0.23419	0.006|0.046	T|T	0.16041|0.16041	-1.0416|-1.0416	7|8	.|.	.|.	.|.	-2.638|-2.638	5.7242|5.7242	0.18004|0.18004	0.0:0.4701:0.1341:0.3959|0.0:0.4701:0.1341:0.3959	.|.	7|45	B4DZ67|P57740	.|NU107_HUMAN	I|N	7|45	.|.	.|.	L|T	+|+	1|2	2|0	NUP107|NUP107	67369613|67369613	0.000000|0.000000	0.05858|0.05858	0.025000|0.025000	0.17156|0.17156	0.435000|0.435000	0.31806|0.31806	-0.039000|-0.039000	0.12124|0.12124	-0.083000|-0.083000	0.12618|0.12618	-0.140000|-0.140000	0.14226|0.14226	CTA|ACT		0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		7	80	1	0	0.00448238	1	0.00472561	7	80				
KCNH8	131096	broad.mit.edu	37	3	19498417	19498417	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19498417C>T	ENST00000328405.2	+	11	2249	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	661					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.F661F(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCACAAATTCGTGGAAGACA	0.413																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			1	Substitution - coding silent(1)	p.F661F(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1981-1983)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 8							133.0	112.0	119.0					3																	19498417		2203	4298	6501	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19498417C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1983C>T	3.37:g.19498417C>T							p.F661F	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			11	2249	+			661					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.1983C>T	CCDS2632.1																																																																																				0.413	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		21	28	0	0	0	1	0	21	28				
ADRBK1	156	broad.mit.edu	37	11	67049350	67049350	+	Missense_Mutation	SNP	G	G	A	rs374978008		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049350G>A	ENST00000308595.5	+	11	1174	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.R295H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCTGACATGCGCTTCTATGCG	0.642																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(883-885)cGc>cAc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)	G	HIS/ARG	0,4400		0,0,2200	88.0	86.0	86.0		884	5.0	1.0	11		86	1,8589	1.2+/-3.3	0,1,4294	no	missense	ADRBK1	NM_001619.3	29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	295/690	67049350	1,12989	2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049350G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.884G>A	11.37:g.67049350G>A	ENSP00000312262:p.Arg295His					ADRBK1_ENST00000526285.1_Missense_Mutation_p.R295H|ADRBK1_ENST00000527176.1_3'UTR	p.R295H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	1174	+			295			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.884G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429983	0.62844	0.0	1.16E-4	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.27256	1.68;1.68	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	T	0.50292	0.1607	M	0.66560	2.04	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.68765	0.942;0.96	T	0.51458	-0.8703	10	0.59425	D	0.04	-0.0113	18.674	0.91523	0.0:0.0:1.0:0.0	.	295;295	P25098;E9PRV7	ARBK1_HUMAN;.	H	295	ENSP00000312262:R295H;ENSP00000434126:R295H	ENSP00000312262:R295H	R	+	2	0	ADRBK1	66805926	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	6.111000	0.71541	2.493000	0.84123	0.591000	0.81541	CGC		0.642	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		30	41	0	0	0	1	0	30	41				
ADCY2	108	broad.mit.edu	37	5	7789844	7789844	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7789844C>T	ENST00000338316.4	+	20	2648	c.2559C>T	c.(2557-2559)cgC>cgT	p.R853R	ADCY2_ENST00000537121.1_Silent_p.R673R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTGAACCGCGTGCTGCTGG	0.532																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2557-2559)cgC>cgT		adenylate cyclase 2 (brain)							81.0	82.0	82.0					5																	7789844		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789844C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2559C>T	5.37:g.7789844C>T						ADCY2_ENST00000537121.1_Silent_p.R673R	p.R853R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			20	2648	+			853					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2559C>T	CCDS3872.2																																																																																				0.532	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	43	0	0	0	1	0	6	43				
MTR	4548	broad.mit.edu	37	1	236966835	236966835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236966835G>A	ENST00000366577.5	+	2	536	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTR_ENST00000418145.2_Intron|MTR_ENST00000535889.1_Missense_Mutation_p.E48K	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	48	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCTAAACGAAGAACACTT	0.463																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(142-144)Gaa>Aaa		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						117.0	116.0	116.0					1																	236966835		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236966835G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.142G>A	1.37:g.236966835G>A	ENSP00000355536:p.Glu48Lys					MTR_ENST00000418145.2_Intron|MTR_ENST00000535889.1_Missense_Mutation_p.E48K	p.E48K	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	2	536	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	48			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.142G>A	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545515	0.96488	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.36878	1.23;1.23	4.95	4.95	0.65309	Homocysteine S-methyltransferase (4);	0.059375	0.64402	D	0.000004	T	0.70141	0.3190	M	0.93150	3.385	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.79220	-0.1893	10	0.87932	D	0	-23.5127	17.4134	0.87493	0.0:0.0:1.0:0.0	.	48;48;48	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	K	48	ENSP00000355536:E48K;ENSP00000441845:E48K	ENSP00000355536:E48K	E	+	1	0	MTR	235033458	1.000000	0.71417	0.989000	0.46669	0.938000	0.57974	9.615000	0.98356	2.594000	0.87642	0.644000	0.83932	GAA		0.463	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		49	49	0	0	0	1	0	49	49				
PTCD1	26024	broad.mit.edu	37	7	99022750	99022750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99022750C>A	ENST00000292478.4	-	6	1655	c.1405G>T	c.(1405-1407)Ggg>Tgg	p.G469W	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.G518W|PTCD1_ENST00000555673.1_Missense_Mutation_p.G518W	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	469					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGGCCCCCTATCAAGGCC	0.657																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(1405-1407)Ggg>Tgg		pentatricopeptide repeat domain 1							31.0	36.0	34.0					7																	99022750		2203	4298	6501	SO:0001583	missense	26024							g.chr7:99022750C>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1405G>T	7.37:g.99022750C>A	ENSP00000292478:p.Gly469Trp					ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.G518W|PTCD1_ENST00000555673.1_Missense_Mutation_p.G518W	p.G469W	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1655	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1405G>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086640	0.76642	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.72282	-0.64;-0.6;-0.6	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88533	0.3104	10	0.87932	D	0	-43.7688	19.8766	0.96875	0.0:1.0:0.0:0.0	.	518;469	G3V325;O75127	.;PTCD1_HUMAN	W	469;251;518;518	ENSP00000292478:G469W;ENSP00000450995:G518W;ENSP00000400168:G518W	ENSP00000400168:G518W	G	-	1	0	ATP5J2-PTCD1;PTCD1	98860686	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	GGG		0.657	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		9	75	1	0	0.000274275	1	0.000298791	9	75				
SACS	26278	broad.mit.edu	37	13	23911318	23911318	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911318T>C	ENST00000382292.3	-	9	6970	c.6697A>G	c.(6697-6699)Agt>Ggt	p.S2233G	SACS_ENST00000402364.1_Missense_Mutation_p.S1483G|SACS_ENST00000382298.3_Missense_Mutation_p.S2233G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2233					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGCTTAAAACTGTTGCCTTTC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6697-6699)Agt>Ggt		spastic ataxia of Charlevoix-Saguenay (sacsin)							61.0	63.0	62.0					13																	23911318		2202	4299	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911318T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6697A>G	13.37:g.23911318T>C	ENSP00000371729:p.Ser2233Gly					SACS_ENST00000382292.3_Missense_Mutation_p.S2233G|SACS_ENST00000402364.1_Missense_Mutation_p.S1483G	p.S2233G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7285	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2233					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.6697A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	7.374	0.627424	0.14257	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86956	-2.04;-2.19;-2.04	5.93	3.31	0.37934	.	0.276515	0.41605	D	0.000841	T	0.69133	0.3077	N	0.08118	0	0.27666	N	0.946913	B	0.23937	0.094	B	0.16722	0.016	T	0.57877	-0.7735	10	0.34782	T	0.22	.	4.1257	0.10126	0.0:0.1568:0.4001:0.4431	.	2233	Q9NZJ4	SACS_HUMAN	G	2233;1483;2233	ENSP00000371729:S2233G;ENSP00000385844:S1483G;ENSP00000371735:S2233G	ENSP00000371729:S2233G	S	-	1	0	SACS	22809318	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.955000	0.40372	1.028000	0.39785	0.528000	0.53228	AGT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	48	0	0	0	1	0	7	48				
PTPRG	5793	broad.mit.edu	37	3	62254828	62254828	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62254828A>G	ENST00000474889.1	+	20	3370	c.2993A>G	c.(2992-2994)aAt>aGt	p.N998S	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N969S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	998	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAATCAGAAATACAAAAGTG	0.403																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2992-2994)aAt>aGt		protein tyrosine phosphatase, receptor type, G							89.0	85.0	86.0					3																	62254828		2203	4299	6502	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62254828A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2993A>G	3.37:g.62254828A>G	ENSP00000418112:p.Asn998Ser					PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N969S|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	p.N998S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	20	3370	+			998			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2993A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370679	0.61624	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.84146	-1.81;-1.81	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.091061	0.85682	D	0.000000	D	0.87422	0.6173	L	0.56124	1.755	0.58432	D	0.999999	D;B;B	0.53462	0.96;0.014;0.415	P;B;B	0.51385	0.668;0.03;0.244	D	0.88651	0.3182	10	0.72032	D	0.01	.	16.1966	0.82029	1.0:0.0:0.0:0.0	.	244;969;998	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	998;969	ENSP00000418112:N998S;ENSP00000295874:N969S	ENSP00000295874:N969S	N	+	2	0	PTPRG	62229868	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	9.045000	0.93812	2.232000	0.73038	0.528000	0.53228	AAT		0.403	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		25	64	0	0	0	1	0	25	64				
C6orf62	81688	broad.mit.edu	37	6	24714603	24714603	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24714603G>A	ENST00000378119.4	-	3	2539	c.372C>T	c.(370-372)atC>atT	p.I124I	C6orf62_ENST00000540769.1_Silent_p.I66I|C6orf62_ENST00000378102.3_Silent_p.I95I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	124						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GGAGACAGACGATTTTTTCAA	0.333																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(370-372)atC>atT		chromosome 6 open reading frame 62							76.0	79.0	78.0					6																	24714603		2203	4300	6503	SO:0001819	synonymous_variant	81688					intracellular		g.chr6:24714603G>A	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.372C>T	6.37:g.24714603G>A						C6orf62_ENST00000540769.1_Silent_p.I66I|C6orf62_ENST00000378102.3_Silent_p.I95I	p.I124I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			3	2539	-			124					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Silent	SNP	ENST00000378119.4	37	c.372C>T	CCDS4559.1																																																																																				0.333	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		50	66	0	0	0	1	0	50	66				
NOS1	4842	broad.mit.edu	37	12	117768386	117768386	+	Silent	SNP	G	G	A	rs375672027		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117768386G>A	ENST00000338101.4	-	1	493	c.489C>T	c.(487-489)taC>taT	p.Y163Y	NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Silent_p.Y163Y|NOS1_ENST00000344089.3_Silent_p.Y163Y			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCCCATCATCGTAGGCATGCT	0.682																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(487-489)taC>taT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)	G	,	0,3882		0,0,1941	48.0	53.0	51.0		489,489	-7.4	0.0	12		51	1,8267		0,1,4133	no	coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204218.1	,	0,1,6074	AA,AG,GG		0.0121,0.0,0.0082	,	163/1435,163/1469	117768386	1,12149	1941	4134	6075	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768386G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.489C>T	12.37:g.117768386G>A						NOS1_ENST00000344089.3_Silent_p.Y163Y|NOS1_ENST00000338101.4_Silent_p.Y163Y	p.Y163Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1174	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		163			Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.			Silent	SNP	ENST00000338101.4	37	c.489C>T	CCDS55890.1																																																																																				0.682	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			30	43	0	0	0	1	0	30	43				
ELF5	2001	broad.mit.edu	37	11	34515065	34515065	+	Missense_Mutation	SNP	C	C	T	rs367861770		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34515065C>T	ENST00000312319.2	-	3	575	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ELF5_ENST00000429939.2_Intron|ELF5_ENST00000532417.1_Missense_Mutation_p.E106K|ELF5_ENST00000528709.1_Intron|ELF5_ENST00000257832.2_Missense_Mutation_p.E106K	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	116	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TACAGGTACTCGCCGCAGAGG	0.557											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(61;202 1660 4348 21594)	ENST00000312319.2																			0				large_intestine(4)|skin(1)	5						c.(346-348)Gag>Aag		E74-like factor 5 (ets domain transcription factor)		C	LYS/GLU,LYS/GLU	0,4404		0,0,2202	64.0	49.0	54.0		316,346	4.7	1.0	11		54	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	ELF5	NM_001422.3,NM_198381.1	56,56	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	106/256,116/266	34515065	1,12999	2202	4298	6500	SO:0001583	missense	2001				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34515065C>T	AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.346G>A	11.37:g.34515065C>T	ENSP00000311010:p.Glu116Lys		OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	ELF5_ENST00000429939.2_Intron|ELF5_ENST00000528709.1_Intron|ELF5_ENST00000532417.1_Missense_Mutation_p.E106K|ELF5_ENST00000257832.2_Missense_Mutation_p.E106K	p.E116K	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN			3	575	-		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)	116			PNT.		A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Missense_Mutation	SNP	ENST00000312319.2	37	c.346G>A	CCDS7892.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371647	0.82573	0.0	1.16E-4	ENSG00000135374	ENST00000257832;ENST00000312319;ENST00000532417	T;T;T	0.30714	1.52;1.52;1.52	4.66	4.66	0.58398	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.185133	0.37393	N	0.002113	T	0.37679	0.1012	L	0.28192	0.835	0.40666	D	0.982177	D;D	0.76494	0.999;0.999	P;P	0.62089	0.885;0.898	T	0.20075	-1.0286	10	0.48119	T	0.1	.	12.6542	0.56778	0.1651:0.8349:0.0:0.0	.	106;116	Q9UKW6-3;Q9UKW6	.;ELF5_HUMAN	K	106;116;106	ENSP00000257832:E106K;ENSP00000311010:E116K;ENSP00000436386:E106K	ENSP00000257832:E106K	E	-	1	0	ELF5	34471641	0.996000	0.38824	1.000000	0.80357	0.929000	0.56500	2.183000	0.42565	2.146000	0.66826	0.561000	0.74099	GAG		0.557	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389845.1	NM_198381		12	15	0	0	0	1	0	12	15				
DCAF10	79269	broad.mit.edu	37	9	37857348	37857348	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37857348G>T	ENST00000377724.3	+	5	1530	c.1165G>T	c.(1165-1167)Gga>Tga	p.G389*	DCAF10_ENST00000242323.7_Intron|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	389					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TCAAAGAGAAGGTAGGTTAAA	0.333																																						ENST00000377724.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.e5+1		DDB1 and CUL4 associated factor 10							69.0	69.0	69.0					9																	37857348		2203	4300	6503	SO:0001630	splice_region_variant	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37857348G>T	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1165+1G>T	9.37:g.37857348G>T						DCAF10_ENST00000483167.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Intron	p.G389_splice	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN			5	1530	+			389					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Splice_Site	SNP	ENST00000377724.3	37	c.1165_splice	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	G	41	9.022291	0.99038	.	.	ENSG00000122741	ENST00000377724	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.8727	0.88815	0.0:0.0:1.0:0.0	.	.	.	.	X	389	.	ENSP00000366953:G389X	G	+	1	0	DCAF10	37847348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.624000	0.74243	2.826000	0.97356	0.563000	0.77884	GGA		0.333	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345	Nonsense_Mutation	25	37	1	0	7.33532e-06	1	8.36534e-06	25	37				
ELFN2	114794	broad.mit.edu	37	22	37769952	37769952	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37769952C>A	ENST00000402918.2	-	3	2408	c.1623G>T	c.(1621-1623)gtG>gtT	p.V541V	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	541					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGACCTTGTCCACCTCCTTGG	0.642																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1621-1623)gtG>gtT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							97.0	91.0	93.0					22																	37769952		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769952C>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1623G>T	22.37:g.37769952C>A						ELFN2_ENST00000349653.3_Silent_p.V541V|RP1-63G5.5_ENST00000430883.1_RNA	p.V541V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2408	-	Melanoma(58;0.0574)		541					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1623G>T	CCDS33642.1																																																																																				0.642	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		6	91	1	0	0.00116845	1	0.00124821	6	91				
PTGFRN	5738	broad.mit.edu	37	1	117529445	117529445	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529445C>A	ENST00000393203.2	+	9	2643	c.2496C>A	c.(2494-2496)ccC>ccA	p.P832P		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	832					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAAGTATCCCTTGCTGATCG	0.607																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2494-2496)ccC>ccA		prostaglandin F2 receptor inhibitor							101.0	86.0	91.0					1																	117529445		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117529445C>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2496C>A	1.37:g.117529445C>A							p.P832P	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	9	2643	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	832					Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.2496C>A	CCDS890.1																																																																																				0.607	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		4	60	1	0	0.00909568	1	0.00947522	4	60				
IFT140	9742	broad.mit.edu	37	16	1630804	1630804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1630804C>T	ENST00000426508.2	-	13	1843	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA|LA16c-425C2.1_ENST00000568149.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	494					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCGTGTAAACGTTTTCTTCA	0.498																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1480-1482)Gtt>Att		intraflagellar transport 140 homolog (Chlamydomonas)							120.0	96.0	104.0					16																	1630804		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1630804C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1480G>A	16.37:g.1630804C>T	ENSP00000406012:p.Val494Ile					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.V494I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			13	1843	-		Hepatocellular(780;0.219)	494					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1480G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	8.482	0.859929	0.17178	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.57436	0.4	5.42	3.42	0.39159	.	0.392259	0.26820	N	0.022335	T	0.34308	0.0893	L	0.35487	1.065	0.26049	N	0.981509	B;B	0.22746	0.024;0.074	B;B	0.21708	0.009;0.036	T	0.21008	-1.0258	10	0.09590	T	0.72	.	6.8244	0.23874	0.0:0.4814:0.3553:0.1634	.	494;219	Q96RY7;B4DR58	IF140_HUMAN;.	I	494	ENSP00000406012:V494I	ENSP00000380562:V494I	V	-	1	0	IFT140	1570805	0.048000	0.20356	0.047000	0.18901	0.869000	0.49853	0.256000	0.18351	0.726000	0.32339	0.655000	0.94253	GTT		0.498	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		10	41	0	0	0	1	0	10	41				
PTGER3	5733	broad.mit.edu	37	1	71512568	71512568	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512568G>T	ENST00000306666.5	-	1	903	c.693C>A	c.(691-693)gcC>gcA	p.A231A	PTGER3_ENST00000370931.3_Silent_p.A231A|PTGER3_ENST00000370924.4_Silent_p.A231A|PTGER3_ENST00000460330.1_Silent_p.A231A|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000356595.4_Silent_p.A231A|PTGER3_ENST00000351052.5_Silent_p.A231A|PTGER3_ENST00000414819.1_Silent_p.A231A|PTGER3_ENST00000370932.2_Silent_p.A231A|PTGER3_ENST00000354608.5_Silent_p.A231A	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	231					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CAAAGGCAGAGGCGAAGAAAA	0.627																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(691-693)gcC>gcA		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						109.0	106.0	107.0					1																	71512568		2203	4300	6503	SO:0001819	synonymous_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512568G>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.693C>A	1.37:g.71512568G>T						PTGER3_ENST00000354608.5_Silent_p.A231A|PTGER3_ENST00000356595.4_Silent_p.A231A|PTGER3_ENST00000370932.2_Silent_p.A231A|PTGER3_ENST00000306666.5_Silent_p.A231A|PTGER3_ENST00000351052.5_Silent_p.A231A|PTGER3_ENST00000414819.1_Silent_p.A231A|PTGER3_ENST00000370931.3_Silent_p.A231A|PTGER3_ENST00000460330.1_Silent_p.A231A	p.A231A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	923	-			231					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	c.693C>A	CCDS657.1																																																																																				0.627	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		5	77	1	0	3.59834e-05	1	4.01776e-05	5	77				
IRF8	3394	broad.mit.edu	37	16	85953808	85953808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85953808G>A	ENST00000268638.5	+	8	1504	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	IRF8_ENST00000562492.1_Missense_Mutation_p.R157H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	361					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCCCCTTGCGCTCCAAACTC	0.502																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1081-1083)cGc>cAc		interferon regulatory factor 8							66.0	60.0	62.0					16																	85953808		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85953808G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1082G>A	16.37:g.85953808G>A	ENSP00000268638:p.Arg361His					IRF8_ENST00000562492.1_Missense_Mutation_p.R157H	p.R361H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			8	1504	+		Prostate(104;0.0771)	361					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.1082G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	8.426	0.847443	0.17034	.	.	ENSG00000140968	ENST00000268638	D	0.94931	-3.56	5.15	5.15	0.70609	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.277219	0.38164	N	0.001799	D	0.90731	0.7091	L	0.37561	1.115	0.42286	D	0.992115	B	0.25955	0.138	B	0.28139	0.086	D	0.88486	0.3072	10	0.49607	T	0.09	-30.8751	11.7322	0.51744	0.0819:0.0:0.9181:0.0	.	361	Q02556	IRF8_HUMAN	H	361	ENSP00000268638:R361H	ENSP00000268638:R361H	R	+	2	0	IRF8	84511309	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.838000	0.62803	2.397000	0.81536	0.655000	0.94253	CGC		0.502	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		10	17	0	0	0	1	0	10	17				
TEX14	56155	broad.mit.edu	37	17	56647841	56647841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56647841C>A	ENST00000240361.8	-	26	3945	c.3860G>T	c.(3859-3861)aGa>aTa	p.R1287I	TEX14_ENST00000389934.3_Missense_Mutation_p.R1281I|TEX14_ENST00000349033.5_Missense_Mutation_p.R1241I			Q8IWB6	TEX14_HUMAN	testis expressed 14	1287					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGACAATCTTTTCTATAA	0.443																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(3841-3843)aGa>aTa		testis expressed 14							68.0	69.0	69.0					17																	56647841		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56647841C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3860G>T	17.37:g.56647841C>A	ENSP00000240361:p.Arg1287Ile					TEX14_ENST00000349033.5_Missense_Mutation_p.R1241I|TEX14_ENST00000240361.8_Missense_Mutation_p.R1287I	p.R1281I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			26	3959	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1287					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3842G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974779	0.74360	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.28069	1.63;1.63;1.63	3.91	0.43	0.16515	.	0.532850	0.19310	N	0.117415	T	0.35008	0.0917	L	0.55481	1.735	0.34551	D	0.711321	P;D;P	0.53151	0.788;0.958;0.928	B;P;P	0.53593	0.293;0.66;0.73	T	0.47661	-0.9100	10	0.87932	D	0	-6.1255	5.526	0.16959	0.0:0.5617:0.0:0.4383	.	1287;1241;1281	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	1287;1281;1241	ENSP00000240361:R1287I;ENSP00000374584:R1281I;ENSP00000268910:R1241I	ENSP00000240361:R1287I	R	-	2	0	TEX14	54002840	0.017000	0.18338	0.356000	0.25785	0.851000	0.48451	-0.297000	0.08276	0.120000	0.18254	0.655000	0.94253	AGA		0.443	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			6	48	1	0	0.0381472	1	0.0390147	6	48				
INTS3	65123	broad.mit.edu	37	1	153733342	153733342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153733342C>T	ENST00000318967.2	+	13	1925	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R453W|INTS3_ENST00000512605.1_Missense_Mutation_p.R247W|INTS3_ENST00000456435.1_Missense_Mutation_p.R247W	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	454					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCCACGTGCGGCAGGGTGT	0.512																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(739-741)Cgg>Tgg		integrator complex subunit 3							177.0	163.0	168.0					1																	153733342		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153733342C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1357C>T	1.37:g.153733342C>T	ENSP00000318641:p.Arg453Trp					INTS3_ENST00000512605.1_Missense_Mutation_p.R247W|INTS3_ENST00000318967.2_Missense_Mutation_p.R453W|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R453W	p.R247W			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	1925	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		454					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.739C>T	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152146	0.78001	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.0	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.80616	2.505	0.54753	D	0.999981	D;D;D	0.65815	0.994;0.995;0.986	P;P;B	0.48141	0.556;0.568;0.432	T	0.57021	-0.7882	9	0.87932	D	0	.	7.784	0.29080	0.3321:0.5071:0.1609:0.0	.	247;454;453	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	W	453;247;453;247	.	ENSP00000318641:R453W	R	+	1	2	INTS3	151999966	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	3.440000	0.52886	0.668000	0.31126	0.455000	0.32223	CGG		0.512	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		14	93	0	0	0	1	0	14	93				
BMPR2	659	broad.mit.edu	37	2	203329608	203329608	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203329608C>A	ENST00000374580.4	+	2	692	c.153C>A	c.(151-153)atC>atA	p.I51I	BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Silent_p.I51I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	51					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGAGTAGAATCTCTCATGAAA	0.398																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(151-153)atC>atA		bone morphogenetic protein receptor, type II (serine/threonine kinase)							110.0	107.0	108.0					2																	203329608		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203329608C>A	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.153C>A	2.37:g.203329608C>A						BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Silent_p.I51I	p.I51I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			2	692	+			51					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.153C>A	CCDS33361.1																																																																																				0.398	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		4	88	1	0	3.59834e-05	1	4.01776e-05	4	88				
UNC13B	10497	broad.mit.edu	37	9	35403967	35403967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35403967C>T	ENST00000378495.3	+	39	4935	c.4713C>T	c.(4711-4713)gaC>gaT	p.D1571D	ATP8B5P_ENST00000430846.1_RNA|UNC13B_ENST00000378496.4_Silent_p.D1590D|UNC13B_ENST00000396787.1_Silent_p.D1602D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1571					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCAATGACGAGGTGGCCC	0.552																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4711-4713)gaC>gaT		unc-13 homolog B (C. elegans)							67.0	67.0	67.0					9																	35403967		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35403967C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4713C>T	9.37:g.35403967C>T						UNC13B_ENST00000396787.1_Silent_p.D1602D|UNC13B_ENST00000378496.4_Silent_p.D1590D	p.D1571D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		39	4935	+	all_epithelial(49;0.212)		1571					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.4713C>T	CCDS6579.1																																																																																				0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		5	51	0	0	0	1	0	5	51				
WDR75	84128	broad.mit.edu	37	2	190340124	190340124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190340124G>A	ENST00000314761.4	+	21	2534	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	825						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATAGACTACAGCTGGATAGCT	0.348																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(2473-2475)aGc>aAc		WD repeat domain 75							39.0	40.0	39.0					2																	190340124		2202	4300	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190340124G>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2474G>A	2.37:g.190340124G>A	ENSP00000314193:p.Ser825Asn						p.S825N	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		21	2534	+			825					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.2474G>A	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709650	0.68730	.	.	ENSG00000115368	ENST00000314761	T	0.62941	-0.01	5.54	4.66	0.58398	.	0.121897	0.85682	N	0.000000	T	0.75946	0.3919	M	0.68952	2.095	0.47994	D	0.999563	D	0.76494	0.999	D	0.68943	0.961	T	0.78267	-0.2270	10	0.56958	D	0.05	-10.7999	14.6136	0.68531	0.0703:0.0:0.9297:0.0	.	825	Q8IWA0	WDR75_HUMAN	N	825	ENSP00000314193:S825N	ENSP00000314193:S825N	S	+	2	0	WDR75	190048369	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.518000	0.81795	1.482000	0.48325	0.591000	0.81541	AGC		0.348	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		6	17	0	0	0	1	0	6	17				
GIGYF1	64599	broad.mit.edu	37	7	100280061	100280061	+	Missense_Mutation	SNP	G	G	A	rs368692628		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100280061G>A	ENST00000275732.5	-	21	3854	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	882					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.T882M(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTTCCTCCGTCTTTTTGCG	0.617																																						ENST00000275732.5																			1	Substitution - Missense(1)	p.T882M(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2644-2646)aCg>aTg		GRB10 interacting GYF protein 1		G	MET/THR	1,4403		0,1,2201	61.0	53.0	55.0		2645	4.2	1.0	7		55	0,8600		0,0,4300	no	missense	GIGYF1	NM_022574.4	81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	882/1036	100280061	1,13003	2202	4300	6502	SO:0001583	missense	64599							g.chr7:100280061G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2645C>T	7.37:g.100280061G>A	ENSP00000275732:p.Thr882Met						p.T882M	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			21	3854	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		882					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2645C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	9.644	1.139801	0.21205	2.27E-4	0.0	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.84070	-1.8	5.03	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	L	0.50919	1.6	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	D	0.86758	0.1965	10	0.46703	T	0.11	-9.5878	12.6747	0.56887	0.0:0.0:0.834:0.166	.	882	O75420	PERQ1_HUMAN	M	601;882	ENSP00000275732:T882M	ENSP00000275732:T882M	T	-	2	0	GIGYF1	100117997	1.000000	0.71417	0.994000	0.49952	0.158000	0.22134	5.543000	0.67225	1.337000	0.45525	-0.320000	0.08662	ACG		0.617	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		21	22	0	0	0	1	0	21	22				
MARCH4	57574	broad.mit.edu	37	2	217124103	217124103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217124103T>C	ENST00000273067.4	-	4	2931	c.1165A>G	c.(1165-1167)Aga>Gga	p.R389G	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	389						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCATGAGGTCTCAAGTGACTC	0.622																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(1165-1167)Aga>Gga		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							79.0	76.0	77.0					2																	217124103		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124103T>C	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1165A>G	2.37:g.217124103T>C	ENSP00000273067:p.Arg389Gly						p.R389G	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2931	-		Renal(323;0.0854)	389					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.1165A>G	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.864519	0.71949	.	.	ENSG00000144583	ENST00000273067	T	0.29142	1.58	5.47	1.48	0.22813	.	0.046562	0.85682	D	0.000000	T	0.52322	0.1727	M	0.70275	2.135	0.53688	D	0.999977	D	0.76494	0.999	D	0.85130	0.997	T	0.57075	-0.7873	10	0.72032	D	0.01	-11.1077	13.9822	0.64313	0.0:0.0:0.6007:0.3993	.	389	Q9P2E8	MARH4_HUMAN	G	389	ENSP00000273067:R389G	ENSP00000273067:R389G	R	-	1	2	MARCH4	216832348	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.983000	0.29552	0.336000	0.23639	0.459000	0.35465	AGA		0.622	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		30	40	0	0	0	1	0	30	40				
BRWD1	54014	broad.mit.edu	37	21	40578093	40578093	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40578093G>C	ENST00000333229.2	-	37	4632	c.4305C>G	c.(4303-4305)agC>agG	p.S1435R	BRWD1_ENST00000380800.3_Missense_Mutation_p.S1435R|BRWD1_ENST00000342449.3_Missense_Mutation_p.S1435R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1435					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAACCTCTGGCTTCTTCGAA	0.323																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4303-4305)agC>agG		bromodomain and WD repeat domain containing 1							117.0	122.0	120.0					21																	40578093		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578093G>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4305C>G	21.37:g.40578093G>C	ENSP00000330753:p.Ser1435Arg					BRWD1_ENST00000333229.2_Missense_Mutation_p.S1435R|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1435R	p.S1435R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			37	4383	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1435					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4305C>G	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.809|9.809	1.182573|1.182573	0.21870|0.21870	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.56611	.|0.45;0.48;0.55	4.87|4.87	2.76|2.76	0.32466|0.32466	.|.	.|0.148041	.|0.48767	.|D	.|0.000165	T|T	0.50000|0.50000	0.1590|0.1590	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|B;B;D	.|0.59767	.|0.019;0.148;0.986	.|B;B;P	.|0.48873	.|0.061;0.122;0.593	T|T	0.46400|0.46400	-0.9194|-0.9194	5|10	.|0.27082	.|T	.|0.32	-5.8725|-5.8725	4.7801|4.7801	0.13197|0.13197	0.2886:0.174:0.5374:0.0|0.2886:0.174:0.5374:0.0	.|.	.|1435;1435;1435	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	A|R	373|1435;1435;1435;391	.|ENSP00000330753:S1435R;ENSP00000344333:S1435R;ENSP00000370178:S1435R	.|ENSP00000330753:S1435R	P|S	-|-	1|3	0|2	BRWD1|BRWD1	39499963|39499963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	1.274000|1.274000	0.33132|0.33132	1.051000|1.051000	0.40369|0.40369	0.561000|0.561000	0.74099|0.74099	CCA|AGC		0.323	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		70	102	0	0	0	1	0	70	102				
OMA1	115209	broad.mit.edu	37	1	59004856	59004856	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59004856G>A	ENST00000371226.3	-	2	224	c.111C>T	c.(109-111)ggC>ggT	p.G37G	OMA1_ENST00000358603.2_Silent_p.G37G|OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	37					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CTTGATGACAGCCCCGTGAGG	0.403																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(109-111)ggC>ggT		OMA1 zinc metallopeptidase							104.0	105.0	105.0					1																	59004856		2203	4300	6503	SO:0001819	synonymous_variant	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004856G>A	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.111C>T	1.37:g.59004856G>A						OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Silent_p.G37G	p.G37G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			2	224	-	all_cancers(7;6.54e-05)		37					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Silent	SNP	ENST00000371226.3	37	c.111C>T	CCDS608.1																																																																																				0.403	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		8	132	0	0	0	1	0	8	132				
RNF145	153830	broad.mit.edu	37	5	158585820	158585820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158585820G>T	ENST00000424310.2	-	11	2209	c.1850C>A	c.(1849-1851)aCt>aAt	p.T617N	RNF145_ENST00000520638.1_Missense_Mutation_p.T631N|RNF145_ENST00000519865.1_Missense_Mutation_p.T617N|RNF145_ENST00000274542.2_Missense_Mutation_p.T645N|RNF145_ENST00000521606.2_Missense_Mutation_p.T634N|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000518802.1_Missense_Mutation_p.T647N	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	617						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCTGGAGTATGCTCCTG	0.507																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1849-1851)aCt>aAt		ring finger protein 145							106.0	98.0	101.0					5																	158585820		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158585820G>T	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1850C>A	5.37:g.158585820G>T	ENSP00000409064:p.Thr617Asn					RNF145_ENST00000519865.1_Missense_Mutation_p.T617N|RNF145_ENST00000518802.1_Missense_Mutation_p.T647N|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.T634N|RNF145_ENST00000520638.1_Missense_Mutation_p.T631N|RNF145_ENST00000274542.2_Missense_Mutation_p.T645N	p.T617N	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2209	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	617					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1850C>A	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	0.807	-0.753237	0.03041	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76839	-1.05;-1.04;-1.04;-1.05;-1.05;-1.05;-1.04	4.9	4.03	0.46877	.	0.272819	0.33980	N	0.004370	T	0.51669	0.1688	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.001;0.003;0.0;0.006	B;B;B;B;B	0.15870	0.002;0.004;0.006;0.0;0.014	T	0.34700	-0.9818	10	0.07990	T	0.79	-2.9255	6.6133	0.22763	0.0927:0.0:0.6817:0.2256	.	634;631;647;617;645	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	N	645;617;617;633;634;647;617;631	ENSP00000274542:T645N;ENSP00000430397:T617N;ENSP00000409064:T617N;ENSP00000430753:T633N;ENSP00000445115:T634N;ENSP00000430955:T647N;ENSP00000429071:T631N	ENSP00000274542:T645N	T	-	2	0	RNF145	158518398	0.062000	0.20869	0.010000	0.14722	0.193000	0.23685	2.231000	0.43009	1.057000	0.40506	0.655000	0.94253	ACT		0.507	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		40	57	1	0	4.32679e-17	1	5.60236e-17	40	57				
RBBP4	5928	broad.mit.edu	37	1	33145306	33145306	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33145306G>T	ENST00000373493.5	+	12	1437	c.1278G>T	c.(1276-1278)taG>taT	p.*426Y	RBBP4_ENST00000544435.1_Nonstop_Mutation_p.*174Y|RBBP4_ENST00000373485.1_Intron|RBBP4_ENST00000458695.2_Nonstop_Mutation_p.*391Y|RBBP4_ENST00000414241.3_Nonstop_Mutation_p.*425Y	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	0					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAGGGTCCTAGATATGTCTTT	0.388																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(1276-1278)taG>taT		retinoblastoma binding protein 4							114.0	111.0	112.0					1																	33145306		2203	4300	6503	SO:0001578	stop_lost	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33145306G>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1278G>T	1.37:g.33145306G>T	ENSP00000362592:p.*426Tyrext*7					RBBP4_ENST00000544435.1_Nonstop_Mutation_p.*174Y|RBBP4_ENST00000373485.1_Intron|RBBP4_ENST00000458695.2_Nonstop_Mutation_p.*391Y|RBBP4_ENST00000414241.3_Nonstop_Mutation_p.*425Y	p.*426Y	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN			12	1437	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	0					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Nonstop_Mutation	SNP	ENST00000373493.5	37	c.1278G>T	CCDS366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.891290|1.891290	0.33442|0.33442	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000463378|ENST00000414241;ENST00000373493;ENST00000544435;ENST00000458695	.|.	.|.	.|.	5.3|5.3	4.39|4.39	0.52855|0.52855	.|.	.|.	.|.	.|.	.|.	T|.	0.43478|.	0.1249|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29119|.	-1.0022|.	4|.	.|.	.|.	.|.	.|.	13.1207|13.1207	0.59325|0.59325	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	.|.	.|.	.|.	Y|Y	227|425;426;174;391	.|.	.|.	D|X	+|+	1|3	0|2	RBBP4|RBBP4	32917893|32917893	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.784000|0.784000	0.44337|0.44337	2.807000|2.807000	0.47955|0.47955	1.374000|1.374000	0.46228|0.46228	0.557000|0.557000	0.71058|0.71058	GAT|TAG		0.388	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		21	33	1	0	7.87624e-14	1	1.00187e-13	21	33				
KRT6C	286887	broad.mit.edu	37	12	52867487	52867487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52867487C>T	ENST00000252250.6	-	1	82	c.35G>A	c.(34-36)aGc>aAc	p.S12N		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	12	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCGGCTGCTGCTGTGGCTCCT	0.657																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(34-36)aGc>aAc		keratin 6C							14.0	18.0	17.0					12																	52867487		2076	4100	6176	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52867487C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.35G>A	12.37:g.52867487C>T	ENSP00000252250:p.Ser12Asn						p.S12N	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	1	82	-			12			Head.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.35G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.763411	0.49574	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	T	0.65178	-0.14	2.71	-2.21	0.06973	.	0.404467	0.23834	N	0.044111	T	0.56277	0.1974	M	0.76574	2.34	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52548	-0.8561	10	0.48119	T	0.1	.	10.6253	0.45504	0.1374:0.2948:0.5678:0.0	.	12	P48668	K2C6C_HUMAN	N	12	ENSP00000252250:S12N	ENSP00000252250:S12N	S	-	2	0	KRT6C	51153754	0.001000	0.12720	0.004000	0.12327	0.754000	0.42855	0.235000	0.17948	-0.512000	0.06505	0.514000	0.50259	AGC		0.657	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		9	17	0	0	0	1	0	9	17				
WDR81	124997	broad.mit.edu	37	17	1636912	1636912	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1636912C>A	ENST00000409644.1	+	7	4581	c.4581C>A	c.(4579-4581)aaC>aaA	p.N1527K	WDR81_ENST00000446363.1_Missense_Mutation_p.N166K|WDR81_ENST00000419248.1_Missense_Mutation_p.N300K|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.N158K|WDR81_ENST00000309182.5_Missense_Mutation_p.N476K|WDR81_ENST00000437219.2_Missense_Mutation_p.N324K	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1527					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGTCGCAACCCTGCCAGCG	0.657																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4579-4581)aaC>aaA		WD repeat domain 81							39.0	46.0	44.0					17																	1636912		2202	4290	6492	SO:0001583	missense	124997							g.chr17:1636912C>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4581C>A	17.37:g.1636912C>A	ENSP00000386609:p.Asn1527Lys					WDR81_ENST00000446363.1_Missense_Mutation_p.N166K|WDR81_ENST00000437219.2_Missense_Mutation_p.N324K|WDR81_ENST00000419248.1_Missense_Mutation_p.N300K|WDR81_ENST00000309182.5_Missense_Mutation_p.N476K|WDR81_ENST00000545662.1_Missense_Mutation_p.N158K|RP11-961A15.1_ENST00000576540.1_RNA	p.N1527K	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4581	+			300					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4581C>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	6.456	0.452335	0.12283	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	4.99	0.748	0.18376	.	0.704247	0.14813	N	0.296904	T	0.57272	0.2042	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20887	0.0;0.0;0.049;0.006	B;B;B;B	0.14023	0.0;0.001;0.01;0.01	T	0.43877	-0.9364	10	0.42905	T	0.14	.	1.991	0.03446	0.1272:0.4438:0.1242:0.3049	.	158;324;654;476	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	K	324;476;166;300;112;1527;278;158	ENSP00000391074:N324K;ENSP00000312074:N476K;ENSP00000401560:N166K;ENSP00000407845:N300K;ENSP00000395198:N112K;ENSP00000386609:N1527K;ENSP00000442726:N158K	ENSP00000312074:N476K	N	+	3	2	WDR81	1583662	0.000000	0.05858	0.229000	0.23960	0.073000	0.16967	-0.620000	0.05565	0.161000	0.19458	0.563000	0.77884	AAC		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		11	66	1	0	0.00010058	1	0.000111121	11	66				
PSD3	23362	broad.mit.edu	37	8	18430054	18430054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18430054G>A	ENST00000327040.8	-	14	2870	c.2768C>T	c.(2767-2769)aCa>aTa	p.T923I	PSD3_ENST00000523619.1_Missense_Mutation_p.T858I|PSD3_ENST00000286485.8_Missense_Mutation_p.T389I|PSD3_ENST00000428502.2_Missense_Mutation_p.T252I|PSD3_ENST00000440756.2_Missense_Mutation_p.T925I	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	924					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGTTTTGTTGTAGTGGCAGG	0.403																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2773-2775)aCa>aTa		pleckstrin and Sec7 domain containing 3							127.0	134.0	132.0					8																	18430054		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18430054G>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2768C>T	8.37:g.18430054G>A	ENSP00000324127:p.Thr923Ile					PSD3_ENST00000327040.8_Missense_Mutation_p.T923I|PSD3_ENST00000428502.2_Missense_Mutation_p.T252I|PSD3_ENST00000523619.1_Missense_Mutation_p.T858I|PSD3_ENST00000286485.8_Missense_Mutation_p.T389I	p.T925I			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	14	2876	-			924					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2774C>T	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446012	0.43429	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.17854	2.9;2.9;2.25;2.9	5.61	5.61	0.85477	.	0.118515	0.31123	U	0.008213	T	0.14960	0.0361	L	0.38838	1.175	0.33633	D	0.60626	B;B;B;P	0.41080	0.162;0.162;0.024;0.737	B;B;B;B	0.42062	0.172;0.172;0.021;0.374	T	0.12066	-1.0562	10	0.20519	T	0.43	.	10.8593	0.46817	0.0858:0.0:0.9142:0.0	.	923;924;389;252	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	I	923;925;389;252;858	ENSP00000324127:T923I;ENSP00000401704:T925I;ENSP00000286485:T389I;ENSP00000430640:T858I	ENSP00000286485:T389I	T	-	2	0	PSD3	18474334	1.000000	0.71417	0.971000	0.41717	0.922000	0.55478	4.489000	0.60309	2.803000	0.96430	0.650000	0.86243	ACA		0.403	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		39	58	0	0	0	1	0	39	58				
FMO3	2328	broad.mit.edu	37	1	171086350	171086350	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086350A>C	ENST00000367755.4	+	9	1478	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	FMO3_ENST00000392085.2_Missense_Mutation_p.K456T|FMO3_ENST00000538429.1_Missense_Mutation_p.K393T|FMO3_ENST00000542847.1_Missense_Mutation_p.K436T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ACAGATCCCAAATTGGCCATG	0.502																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1366-1368)aAa>aCa		flavin containing monooxygenase 3							99.0	91.0	94.0					1																	171086350		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086350A>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1367A>C	1.37:g.171086350A>C	ENSP00000356729:p.Lys456Thr					FMO3_ENST00000542847.1_Missense_Mutation_p.K436T|FMO3_ENST00000538429.1_Missense_Mutation_p.K393T|FMO3_ENST00000392085.2_Missense_Mutation_p.K456T	p.K456T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1478	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		456					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1367A>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200816	0.38905	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.34	-1.0	0.10196	.	0.241522	0.41823	D	0.000810	T	0.25419	0.0618	M	0.71206	2.165	0.09310	N	1	P;P;B	0.43094	0.799;0.696;0.293	B;B;B	0.39971	0.297;0.211;0.315	T	0.26360	-1.0105	10	0.30854	T	0.27	-1.9067	5.9073	0.19008	0.3858:0.0:0.4774:0.1368	.	393;436;456	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	T	456;456;436;393	ENSP00000356729:K456T;ENSP00000375935:K456T;ENSP00000444073:K436T;ENSP00000439500:K393T	ENSP00000356729:K456T	K	+	2	0	FMO3	169352974	0.000000	0.05858	0.107000	0.21349	0.929000	0.56500	-0.432000	0.06956	-0.196000	0.10366	0.533000	0.62120	AAA		0.502	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		5	55	0	0	0	1	0	5	55				
ZBTB38	253461	broad.mit.edu	37	3	141161791	141161791	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161791A>G	ENST00000514251.1	+	4	840	c.561A>G	c.(559-561)gcA>gcG	p.A187A	ZBTB38_ENST00000321464.5_Silent_p.A188A|ZBTB38_ENST00000441582.2_Silent_p.A187A					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTTGAGGGCAAGTTTCAAAA	0.502																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(559-561)gcA>gcG		zinc finger and BTB domain containing 38							88.0	83.0	85.0					3																	141161791		1975	4152	6127	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161791A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.561A>G	3.37:g.141161791A>G						ZBTB38_ENST00000321464.5_Silent_p.A188A|ZBTB38_ENST00000441582.2_Silent_p.A187A	p.A187A			Q8NAP3	ZBT38_HUMAN			4	840	+			187						Silent	SNP	ENST00000514251.1	37	c.561A>G	CCDS43157.1																																																																																				0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			9	94	0	0	0	1	0	9	94				
KLHDC1	122773	broad.mit.edu	37	14	50218357	50218357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50218357C>T	ENST00000359332.2	+	13	1178	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	363						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGTCAGATATCTTTATTACCT	0.333																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(1087-1089)tCt>tTt		kelch domain containing 1							53.0	54.0	54.0					14																	50218357		2203	4297	6500	SO:0001583	missense	122773					cytoplasm		g.chr14:50218357C>T	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.1088C>T	14.37:g.50218357C>T	ENSP00000352282:p.Ser363Phe						p.S363F	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			13	1178	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		363					B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.1088C>T	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158095	0.57368	.	.	ENSG00000197776	ENST00000359332	T	0.12879	2.64	5.53	5.53	0.82687	.	0.218401	0.41097	D	0.000948	T	0.13970	0.0338	L	0.40543	1.245	0.35650	D	0.811674	B	0.29716	0.255	B	0.22753	0.041	T	0.08597	-1.0714	10	0.72032	D	0.01	-15.0963	16.9536	0.86252	0.0:1.0:0.0:0.0	.	363	Q8N7A1	KLDC1_HUMAN	F	363	ENSP00000352282:S363F	ENSP00000352282:S363F	S	+	2	0	KLHDC1	49288107	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.269000	0.51592	2.585000	0.87301	0.467000	0.42956	TCT		0.333	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		15	19	0	0	0	1	0	15	19				
MUC17	140453	broad.mit.edu	37	7	100682290	100682290	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100682290G>T	ENST00000306151.4	+	3	7657	c.7593G>T	c.(7591-7593)gaG>gaT	p.E2531D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2531	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTCCTGAGGCTAGCACCC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7591-7593)gaG>gaT		mucin 17, cell surface associated							248.0	263.0	258.0					7																	100682290		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682290G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7593G>T	7.37:g.100682290G>T	ENSP00000302716:p.Glu2531Asp						p.E2531D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7657	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2531			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7593G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	2.978	-0.210895	0.06140	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.37	0.37	0.16160	.	.	.	.	.	T	0.01661	0.0053	L	0.29908	0.895	0.09310	N	1	P	0.37985	0.613	B	0.25140	0.058	T	0.46884	-0.9159	9	0.12103	T	0.63	.	6.6184	0.22790	2.0E-4:0.0:0.9998:0.0	.	2531	Q685J3	MUC17_HUMAN	D	2531	ENSP00000302716:E2531D	ENSP00000302716:E2531D	E	+	3	2	MUC17	100469010	0.000000	0.05858	0.007000	0.13788	0.146000	0.21551	-0.224000	0.09164	0.469000	0.27268	0.134000	0.15878	GAG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		22	358	1	0	2.89027e-11	1	3.59474e-11	22	358				
TTN	7273	broad.mit.edu	37	2	179446359	179446359	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446359T>C	ENST00000591111.1	-	266	61937	c.61713A>G	c.(61711-61713)ctA>ctG	p.L20571L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.L13147L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L13272L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L19644L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.L22212L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.L13339L|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20571	Fibronectin type-III 49. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTTTCTGTAGATTCTGTG	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66634-66636)ctA>ctG		titin							92.0	90.0	91.0					2																	179446359		1983	4148	6131	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446359T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61713A>G	2.37:g.179446359T>C						TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.L13147L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L19644L|TTN_ENST00000359218.5_Silent_p.L13272L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.L13339L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.L20571L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.L22212L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		316	66860	-			20571			Fibronectin type-III 61.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.66636A>G																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	23	0	0	0	1	0	8	23				
FOXM1	2305	broad.mit.edu	37	12	2977736	2977736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2977736C>T	ENST00000359843.3	-	4	907	c.839G>A	c.(838-840)gGc>gAc	p.G280D	FOXM1_ENST00000361953.3_Missense_Mutation_p.G280D|FOXM1_ENST00000342628.2_Missense_Mutation_p.G280D|FOXM1_ENST00000537018.1_5'UTR	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	280					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TACCTTCCAGCCTGGCTTGGC	0.488																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(838-840)gGc>gAc		forkhead box M1							203.0	163.0	177.0					12																	2977736		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2977736C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.839G>A	12.37:g.2977736C>T	ENSP00000352901:p.Gly280Asp					FOXM1_ENST00000359843.3_Missense_Mutation_p.G280D|FOXM1_ENST00000361953.3_Missense_Mutation_p.G280D|FOXM1_ENST00000537018.1_5'UTR	p.G280D	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		4	952	-			280					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.839G>A	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084308	0.94100	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.96011	-3.88;-3.88;-3.88	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98487	1.0608	10	0.72032	D	0.01	.	18.7398	0.91769	0.0:1.0:0.0:0.0	.	279;280;280;280;280	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	D	280	ENSP00000342307:G280D;ENSP00000354492:G280D;ENSP00000352901:G280D	ENSP00000342307:G280D	G	-	2	0	FOXM1	2847997	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.487000	0.81328	2.656000	0.90262	0.655000	0.94253	GGC		0.488	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		8	99	0	0	0	1	0	8	99				
XPOT	11260	broad.mit.edu	37	12	64825547	64825547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64825547G>A	ENST00000332707.5	+	18	2735	c.2206G>A	c.(2206-2208)Gca>Aca	p.A736T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	736	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTGTGAAGCAAAAGATCT	0.413																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2206-2208)Gca>Aca		exportin, tRNA							85.0	79.0	81.0					12																	64825547		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64825547G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2206G>A	12.37:g.64825547G>A	ENSP00000327821:p.Ala736Thr						p.A736T	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	18	2735	+			736			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2206G>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756771	0.49362	.	.	ENSG00000184575	ENST00000332707	T	0.65364	-0.15	4.27	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	L	0.36672	1.1	0.80722	D	1	P	0.48230	0.907	B	0.41764	0.366	T	0.56098	-0.8035	9	.	.	.	.	17.6502	0.88161	0.0:0.0:1.0:0.0	.	736	O43592	XPOT_HUMAN	T	736	ENSP00000327821:A736T	.	A	+	1	0	XPOT	63111814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.262000	0.72514	2.344000	0.79699	0.549000	0.68633	GCA		0.413	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		42	47	0	0	0	1	0	42	47				
ATP7B	540	broad.mit.edu	37	13	52585455	52585455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52585455G>A	ENST00000242839.4	-	1	175	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	ATP7B_ENST00000344297.5_Nonsense_Mutation_p.Q7*|ALG11_ENST00000523764.1_5'Flank|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.Q7*|ALG11_ENST00000521508.1_5'Flank|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.Q7*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	7					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCTGTGATCTGTCTCTCCTGC	0.597									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(19-21)Cag>Tag		ATPase, Cu++ transporting, beta polypeptide							75.0	89.0	85.0					13																	52585455		2054	4200	6254	SO:0001587	stop_gained	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52585455G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.19C>T	13.37:g.52585455G>A	ENSP00000242839:p.Gln7*					ATP7B_ENST00000344297.5_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.Q7*	p.Q7*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	1	175	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	7					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	ENST00000242839.4	37	c.19C>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327573	0.81690	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	3.74	2.87	0.33458	.	3.982800	0.02459	U	0.086428	.	.	.	.	.	.	0.19575	N	0.999967	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	1.4072	8.7416	0.34560	0.0:0.0:0.7752:0.2248	.	.	.	.	X	7	.	ENSP00000242839:Q7X	Q	-	1	0	ATP7B	51483456	0.022000	0.18835	0.002000	0.10522	0.060000	0.15804	2.296000	0.43584	0.873000	0.35799	0.460000	0.39030	CAG		0.597	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		5	55	0	0	0	1	0	5	55				
ZNF841	284371	broad.mit.edu	37	19	52570128	52570128	+	Missense_Mutation	SNP	C	C	T	rs535315503	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52570128C>T	ENST00000426391.2	-	5	1210	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	ZNF841_ENST00000389534.4_Missense_Mutation_p.R336Q|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R336Q|ZNF841_ENST00000359973.2_Missense_Mutation_p.R220Q			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTGACTTCTCCGGTGATTTAC	0.403													C|||	4	0.000798722	0.0	0.0	5008	,	,		21484	0.0		0.0	False		,,,				2504	0.0041					ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1006-1008)cGg>cAg		zinc finger protein 841							103.0	87.0	91.0					19																	52570128		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52570128C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.659G>A	19.37:g.52570128C>T	ENSP00000415453:p.Arg220Gln					ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R336Q|ZNF841_ENST00000359973.2_Missense_Mutation_p.R220Q|ZNF841_ENST00000426391.2_Missense_Mutation_p.R220Q	p.R336Q	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	1466	-			220					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1007G>A		.	.	.	.	.	.	.	.	.	.	C	0.020	-1.436649	0.01108	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.07444	3.19;3.19;3.19	2.11	-4.22	0.03800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	N	0.00738	-1.235	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28138	-1.0053	9	0.02654	T	1	.	3.7424	0.08536	0.4214:0.255:0.0:0.3236	.	336;220;220	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	Q	336;220;220	ENSP00000374185:R336Q;ENSP00000415453:R220Q;ENSP00000353060:R220Q	ENSP00000353060:R220Q	R	-	2	0	ZNF841	57261940	0.000000	0.05858	0.012000	0.15200	0.241000	0.25554	-3.380000	0.00491	-2.147000	0.00799	-0.671000	0.03813	CGG		0.403	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		11	19	0	0	0	1	0	11	19				
FAM167B	84734	broad.mit.edu	37	1	32713256	32713256	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32713256C>T	ENST00000373582.3	+	1	423	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	78										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAATGGACTCCGCCCTTGAGT	0.652																																						ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(232-234)tcC>tcT		family with sequence similarity 167, member B							42.0	51.0	48.0					1																	32713256		2001	4168	6169	SO:0001819	synonymous_variant	84734							g.chr1:32713256C>T	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.234C>T	1.37:g.32713256C>T							p.S78S	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	423	+			78					Q5TDH6	Silent	SNP	ENST00000373582.3	37	c.234C>T	CCDS358.2																																																																																				0.652	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		20	40	0	0	0	1	0	20	40				
SPON2	10417	broad.mit.edu	37	4	1164196	1164196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1164196C>T	ENST00000290902.5	-	5	1137	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Missense_Mutation_p.A269T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	269					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TTACCTGAGGCGCTGTCTACA	0.617																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(805-807)Gcc>Acc		spondin 2, extracellular matrix protein							166.0	158.0	161.0					4																	1164196		2203	4300	6503	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1164196C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.805G>A	4.37:g.1164196C>T	ENSP00000290902:p.Ala269Thr					SPON2_ENST00000431380.1_Missense_Mutation_p.A269T	p.A269T	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	1137	-			269					D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.805G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	5.149	0.213031	0.09757	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.09723	2.95;2.95	4.73	2.99	0.34606	.	0.631757	0.14550	N	0.312704	T	0.03564	0.0102	N	0.03154	-0.405	0.09310	N	1	B;B	0.22604	0.036;0.072	B;B	0.10450	0.005;0.005	T	0.42666	-0.9438	10	0.18710	T	0.47	.	2.156	0.03813	0.1677:0.2911:0.3964:0.1447	.	269;269	D3DVN9;Q9BUD6	.;SPON2_HUMAN	T	269	ENSP00000290902:A269T;ENSP00000394832:A269T	ENSP00000290902:A269T	A	-	1	0	SPON2	1154196	0.786000	0.28738	0.798000	0.32154	0.078000	0.17371	0.859000	0.27858	0.419000	0.25927	-0.232000	0.12228	GCC		0.617	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			48	105	0	0	0	1	0	48	105				
FOXR2	139628	broad.mit.edu	37	X	55650714	55650714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650714G>A	ENST00000339140.3	+	1	882	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	190					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AGAAGTCCTGGCAAAGGCCCC	0.502																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(568-570)tgG>tgA		forkhead box R2							65.0	61.0	62.0					X																	55650714		2203	4300	6503	SO:0001587	stop_gained	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650714G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.570G>A	X.37:g.55650714G>A	ENSP00000427329:p.Trp190*						p.W190*	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	882	+			190						Nonsense_Mutation	SNP	ENST00000339140.3	37	c.570G>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384083	0.95967	.	.	ENSG00000189299	ENST00000339140	.	.	.	3.02	3.02	0.34903	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2325	0.48920	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000427329:W190X	W	+	3	0	FOXR2	55667439	1.000000	0.71417	0.162000	0.22713	0.012000	0.07955	5.741000	0.68638	1.778000	0.52293	0.600000	0.82982	TGG		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		8	30	0	0	0	1	0	8	30				
CCT5	22948	broad.mit.edu	37	5	10262654	10262654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10262654G>A	ENST00000280326.4	+	9	1661	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	CCT5_ENST00000515390.1_Missense_Mutation_p.R359H|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.R321H|CCT5_ENST00000503026.1_Missense_Mutation_p.R393H|CCT5_ENST00000515676.1_Missense_Mutation_p.R376H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	414					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AACCTCATCCGCGATAATCGT	0.493																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(1240-1242)cGc>cAc		chaperonin containing TCP1, subunit 5 (epsilon)							173.0	140.0	151.0					5																	10262654		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10262654G>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1241G>A	5.37:g.10262654G>A	ENSP00000280326:p.Arg414His					CCT5_ENST00000515676.1_Missense_Mutation_p.R376H|CCT5_ENST00000503026.1_Missense_Mutation_p.R393H|CCT5_ENST00000506600.1_Missense_Mutation_p.R321H|CCT5_ENST00000515390.1_Missense_Mutation_p.R359H	p.R414H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			9	1661	+			414					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.1241G>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094154	0.76870	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.09	5.09	0.68999	.	0.045995	0.85682	D	0.000000	D	0.85128	0.5626	M	0.86740	2.835	0.58432	D	0.999999	B;B;B;B;B	0.23990	0.076;0.095;0.009;0.009;0.009	B;B;B;B;B	0.30572	0.08;0.117;0.021;0.034;0.021	D	0.84842	0.0808	10	0.66056	D	0.02	-14.4748	17.9213	0.88966	0.0:0.0:1.0:0.0	.	321;359;412;414;414	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	H	414;393;359;387;376;321	ENSP00000280326:R414H;ENSP00000423318:R393H;ENSP00000426923:R359H;ENSP00000427297:R376H;ENSP00000423052:R321H	ENSP00000280326:R414H	R	+	2	0	CCT5	10315654	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	5.550000	0.67268	2.528000	0.85240	0.558000	0.71614	CGC		0.493	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			27	45	0	0	0	1	0	27	45				
PCDHB12	56124	broad.mit.edu	37	5	140590516	140590516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140590516C>T	ENST00000239450.2	+	1	2226	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	PCDHB12_ENST00000541609.1_Silent_p.A342A|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	679					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGCCCAGGCCCAGG	0.701																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2035-2037)gcC>gcT									55.0	61.0	59.0					5																	140590516		2192	4277	6469	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590516C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2037C>T	5.37:g.140590516C>T						PCDHB12_ENST00000541609.1_Silent_p.A342A	p.A679A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2226	+			679					B4DDU1	Silent	SNP	ENST00000239450.2	37	c.2037C>T	CCDS4254.1																																																																																				0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		38	45	0	0	0	1	0	38	45				
COG5	10466	broad.mit.edu	37	7	106871105	106871105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106871105C>T	ENST00000347053.3	-	18	2203	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	COG5_ENST00000393603.2_Missense_Mutation_p.R739Q|COG5_ENST00000297135.3_Missense_Mutation_p.R739Q	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	718					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.R739L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGATACTCGTCTACAGAA	0.388																																						ENST00000393603.2																			1	Substitution - Missense(1)	p.R739L(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(2215-2217)cGa>cAa		component of oligomeric golgi complex 5							157.0	159.0	158.0					7																	106871105		2203	4300	6503	SO:0001583	missense	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106871105C>T	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2153G>A	7.37:g.106871105C>T	ENSP00000334703:p.Arg718Gln					COG5_ENST00000297135.3_Missense_Mutation_p.R739Q|COG5_ENST00000347053.3_Missense_Mutation_p.R718Q	p.R739Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			19	2487	-			718					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.2216G>A	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198588	0.79015	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.58358	0.34;0.34;0.34	5.88	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.81682	2.555	0.46586	D	0.999119	D;D	0.61080	0.975;0.989	B;P	0.50896	0.372;0.653	T	0.67377	-0.5686	10	0.41790	T	0.15	-14.5824	13.5429	0.61686	0.0:0.928:0.0:0.072	.	718;739	Q9UP83;Q9UP83-2	COG5_HUMAN;.	Q	718;739;739	ENSP00000334703:R718Q;ENSP00000297135:R739Q;ENSP00000377228:R739Q	ENSP00000297135:R739Q	R	-	2	0	COG5	106658341	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.879000	0.75572	1.502000	0.48669	0.561000	0.74099	CGA		0.388	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			18	214	0	0	0	1	0	18	214				
PTPN4	5775	broad.mit.edu	37	2	120690017	120690017	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120690017T>C	ENST00000263708.2	+	14	1859	c.1088T>C	c.(1087-1089)tTg>tCg	p.L363S	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	363					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTAAGCCCTTGGCACGGAAA	0.353																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1087-1089)tTg>tCg		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						52.0	49.0	50.0					2																	120690017		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120690017T>C		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1088T>C	2.37:g.120690017T>C	ENSP00000263708:p.Leu363Ser					PTPN4_ENST00000544261.1_5'UTR	p.L363S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			14	1859	+			363					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1088T>C	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.864264	0.71949	.	.	ENSG00000088179	ENST00000263708	D	0.85013	-1.93	5.1	5.1	0.69264	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.87402	0.2370	10	0.35671	T	0.21	.	15.2088	0.73202	0.0:0.0:0.0:1.0	.	363	P29074	PTN4_HUMAN	S	363	ENSP00000263708:L363S	ENSP00000263708:L363S	L	+	2	0	PTPN4	120406487	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.954000	0.76001	2.045000	0.60652	0.460000	0.39030	TTG		0.353	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			3	31	0	0	0	1	0	3	31				
SGSM3	27352	broad.mit.edu	37	22	40800570	40800570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40800570C>T	ENST00000248929.9	+	6	565	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	SGSM3_ENST00000454798.2_Missense_Mutation_p.R59W	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTGTGGATGCGGCTCTCTGG	0.592																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(376-378)Cgg>Tgg		small G protein signaling modulator 3							36.0	33.0	34.0					22																	40800570		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40800570C>T	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.376C>T	22.37:g.40800570C>T	ENSP00000248929:p.Arg126Trp					SGSM3_ENST00000454798.2_Missense_Mutation_p.R59W	p.R126W	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			6	565	+			126			Rab-GAP TBC.			Missense_Mutation	SNP	ENST00000248929.9	37	c.376C>T	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683282	0.68157	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.04360	3.64;3.64;3.64	5.87	4.84	0.62591	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.62088	1.915	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.903;0.903	D;D;D;P;P	0.91635	0.999;0.999;0.978;0.455;0.455	T	0.01294	-1.1393	10	0.33141	T	0.24	.	16.3956	0.83604	0.1328:0.8672:0.0:0.0	.	63;59;126;126;126	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	W	59;126;69;59	ENSP00000399249:R59W;ENSP00000248929:R126W;ENSP00000390998:R59W	ENSP00000248929:R126W	R	+	1	2	SGSM3	39130516	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	5.705000	0.68355	1.472000	0.48140	-0.182000	0.12963	CGG		0.592	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		12	14	0	0	0	1	0	12	14				
MLLT3	4300	broad.mit.edu	37	9	20414197	20414197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20414197C>T	ENST00000380338.4	-	5	933	c.647G>A	c.(646-648)aGt>aAt	p.S216N	MLLT3_ENST00000429426.2_Missense_Mutation_p.S213N|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_De_novo_Start_OutOfFrame|MIR4473_ENST00000583731.1_RNA	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	216					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTGAAGGCACTTTTATGTTC	0.393			T	MLL	ALL																																	ENST00000355930.6				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66								myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							248.0	262.0	257.0					9																	20414197		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414197C>T	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.647G>A	9.37:g.20414197C>T	ENSP00000369695:p.Ser216Asn					MLLT3_ENST00000380338.4_Missense_Mutation_p.S216N|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S213N				P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	0	905	-								B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Translation_Start_Site	SNP	ENST00000380338.4	37		CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922702	0.52653	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.48	5.48	0.80851	.	0.077863	0.85682	D	0.000000	T	0.61148	0.2324	M	0.64997	1.995	0.80722	D	1	B;B	0.30824	0.296;0.296	B;B	0.22753	0.041;0.041	T	0.61836	-0.6981	9	0.49607	T	0.09	-8.4394	19.3377	0.94326	0.0:1.0:0.0:0.0	.	213;216	B7Z755;P42568	.;AF9_HUMAN	N	216;213;255	.	ENSP00000369695:S216N	S	-	2	0	MLLT3	20404197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.570000	0.86706	0.591000	0.81541	AGT		0.393	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		30	274	0	0	0	1	0	30	274				
HSP90B1	7184	broad.mit.edu	37	12	104335272	104335272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104335272G>A	ENST00000299767.5	+	9	1359	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	393					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACCCACATCTGCTCCACGTGG	0.368																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1177-1179)Gct>Act		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						115.0	117.0	116.0					12																	104335272		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104335272G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1177G>A	12.37:g.104335272G>A	ENSP00000299767:p.Ala393Thr						p.A393T	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			9	1359	+			393					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1177G>A	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770776	0.90108	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.14640	2.49	5.47	5.47	0.80525	Ribosomal protein S5 domain 2-type fold (1);	0.051346	0.85682	D	0.000000	T	0.27313	0.0670	M	0.85859	2.78	0.80722	D	1	P	0.34826	0.471	B	0.35655	0.207	T	0.10042	-1.0647	10	0.59425	D	0.04	.	19.3381	0.94329	0.0:0.0:1.0:0.0	.	393	P14625	ENPL_HUMAN	T	393;143	ENSP00000299767:A393T	ENSP00000299767:A393T	A	+	1	0	HSP90B1	102859402	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.869000	0.99810	2.558000	0.86282	0.655000	0.94253	GCT		0.368	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		10	107	0	0	0	1	0	10	107				
ABCC4	10257	broad.mit.edu	37	13	95735409	95735409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95735409G>A	ENST00000376887.4	-	21	2785	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	ABCC4_ENST00000412704.1_Missense_Mutation_p.R844C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	891	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GATTCCAGGCGCTTCACATCT	0.438																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2671-2673)Cgc>Tgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						84.0	89.0	87.0					13																	95735409		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95735409G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2671C>T	13.37:g.95735409G>A	ENSP00000366084:p.Arg891Cys					ABCC4_ENST00000412704.1_Missense_Mutation_p.R844C	p.R891C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			21	2785	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		891			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2671C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612203	0.66672	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90563	-2.69;-2.69	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	H	0.99789	4.78	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.64321	0.914;0.924	D	0.99466	1.0944	10	0.72032	D	0.01	.	18.9106	0.92483	0.0:0.0:1.0:0.0	.	844;891	O15439-2;O15439	.;MRP4_HUMAN	C	844;891	ENSP00000388657:R844C;ENSP00000366084:R891C	ENSP00000366084:R891C	R	-	1	0	ABCC4	94533410	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	9.248000	0.95456	2.622000	0.88805	0.563000	0.77884	CGC		0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		16	39	0	0	0	1	0	16	39				
PKHD1L1	93035	broad.mit.edu	37	8	110476889	110476889	+	Missense_Mutation	SNP	G	G	A	rs368232255		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110476889G>A	ENST00000378402.5	+	49	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2610					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7828-7830)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	LYS/GLU	0,3732		0,0,1866	101.0	101.0	101.0		7828	4.0	1.0	8		101	1,8215		0,1,4107	no	missense	PKHD1L1	NM_177531.4	56	0,1,5973	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	2610/4244	110476889	1,11947	1866	4108	5974	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476889G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7828G>A	8.37:g.110476889G>A	ENSP00000367655:p.Glu2610Lys	HNSCC(38;0.096)					p.E2610K	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7932	+			2610					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7828G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676324	0.47886	0.0	1.22E-4	ENSG00000205038	ENST00000378402	T	0.80480	-1.38	5.79	3.99	0.46301	Pectin lyase fold/virulence factor (1);	0.265965	0.35708	N	0.003027	T	0.76018	0.3929	L	0.48642	1.525	0.24537	N	0.994086	P	0.51537	0.946	B	0.43867	0.434	T	0.66031	-0.6024	10	0.36615	T	0.2	.	13.5739	0.61862	0.1436:0.0:0.8564:0.0	.	2610	Q86WI1	PKHL1_HUMAN	K	2610	ENSP00000367655:E2610K	ENSP00000367655:E2610K	E	+	1	0	PKHD1L1	110546065	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.388000	0.52509	0.377000	0.24735	-0.797000	0.03246	GAA		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	94	0	0	0	1	0	18	94				
ACADL	33	broad.mit.edu	37	2	211057568	211057568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211057568G>T	ENST00000233710.3	-	10	1386	c.1159C>A	c.(1159-1161)Cat>Aat	p.H387N	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	387					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CAACCTCCATGGAGCTGTACA	0.353																																						ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(1159-1161)Cat>Aat		acyl-CoA dehydrogenase, long chain							94.0	86.0	89.0					2																	211057568		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211057568G>T	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.1159C>A	2.37:g.211057568G>T	ENSP00000233710:p.His387Asn					AC006994.2_ENST00000412065.1_RNA	p.H387N	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	10	1386	-		Renal(323;0.202)	387					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.1159C>A	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908759	0.92107	.	.	ENSG00000115361	ENST00000233710	D	0.96459	-4.02	6.03	6.03	0.97812	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	H	0.96576	3.845	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.99123	1.0850	10	0.87932	D	0	.	20.1672	0.98154	0.0:0.0:1.0:0.0	.	387	P28330	ACADL_HUMAN	N	387	ENSP00000233710:H387N	ENSP00000233710:H387N	H	-	1	0	ACADL	210765813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.792000	0.91856	2.861000	0.98227	0.655000	0.94253	CAT		0.353	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		4	55	1	0	0.00909568	1	0.00947522	4	55				
PTPRG	5793	broad.mit.edu	37	3	62063840	62063840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62063840C>T	ENST00000474889.1	+	5	900	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q175*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	175	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTACAGATGCAGATTTTCTT	0.303																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(523-525)Cag>Tag		protein tyrosine phosphatase, receptor type, G							50.0	51.0	50.0					3																	62063840		2203	4299	6502	SO:0001587	stop_gained	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62063840C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.523C>T	3.37:g.62063840C>T	ENSP00000418112:p.Gln175*					PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q175*	p.Q175*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	5	900	+			175			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	ENST00000474889.1	37	c.523C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	40	8.309298	0.98754	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	.	.	.	X	175	.	ENSP00000295874:Q175X	Q	+	1	0	PTPRG	62038880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.338000	0.72963	2.692000	0.91855	0.655000	0.94253	CAG		0.303	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		13	20	0	0	0	1	0	13	20				
NUF2	83540	broad.mit.edu	37	1	163317594	163317594	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163317594A>C	ENST00000271452.3	+	12	1269	c.990A>C	c.(988-990)gaA>gaC	p.E330D	NUF2_ENST00000367900.3_Missense_Mutation_p.E330D|NUF2_ENST00000524800.1_Missense_Mutation_p.E283D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	330	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATGAGTCAGAACTGAAGAAAT	0.318																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(988-990)gaA>gaC		NUF2, NDC80 kinetochore complex component							75.0	78.0	77.0					1																	163317594		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317594A>C	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.990A>C	1.37:g.163317594A>C	ENSP00000271452:p.Glu330Asp					NUF2_ENST00000524800.1_Missense_Mutation_p.E283D|NUF2_ENST00000367900.3_Missense_Mutation_p.E330D	p.E330D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			12	1269	+	all_hematologic(923;0.101)		330			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.990A>C	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056987	0.76074	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.39997	1.21;1.05;1.05	6.03	-0.218	0.13142	.	0.047393	0.85682	D	0.000000	T	0.31040	0.0784	L	0.59436	1.845	0.42774	D	0.993846	D;D	0.76494	0.999;0.999	P;P	0.61070	0.883;0.883	T	0.11012	-1.0605	9	0.27785	T	0.31	-22.2545	5.3552	0.16057	0.5549:0.1426:0.3025:0.0	.	283;330	E9PQC4;Q9BZD4	.;NUF2_HUMAN	D	283;330;330	ENSP00000436888:E283D;ENSP00000356875:E330D;ENSP00000271452:E330D	ENSP00000271452:E330D	E	+	3	2	NUF2	161584218	0.385000	0.25172	0.961000	0.40146	0.980000	0.70556	0.600000	0.24104	-0.060000	0.13132	0.533000	0.62120	GAA		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		21	42	0	0	0	1	0	21	42				
TP53BP2	7159	broad.mit.edu	37	1	223968589	223968589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223968589G>T	ENST00000343537.7	-	18	3662	c.3371C>A	c.(3370-3372)cCa>cAa	p.P1124Q	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.P357Q|TP53BP2_ENST00000391878.2_Missense_Mutation_p.P995Q	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1118	Mediates interaction with APC2.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTTAATTCTTGGGTACAGCTG	0.323																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(2983-2985)cCa>cAa		tumor protein p53 binding protein, 2							89.0	89.0	89.0					1																	223968589		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223968589G>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3371C>A	1.37:g.223968589G>T	ENSP00000341957:p.Pro1124Gln					TP53BP2_ENST00000343537.7_Missense_Mutation_p.P1124Q|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.P357Q	p.P995Q	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	19	3752	-			1118			Mediates interaction with APC2.		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2984C>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806060	0.90623	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.55760	2.28;0.5;2.28	5.48	5.48	0.80851	Src homology-3 domain (3);Spectrin alpha chain, SH3 domain (1);	0.047910	0.85682	D	0.000000	T	0.74928	0.3781	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.984	T	0.77275	-0.2648	10	0.87932	D	0	.	19.7152	0.96115	0.0:0.0:1.0:0.0	.	1124;1118	B4DG66;Q13625	.;ASPP2_HUMAN	Q	995;1124;357	ENSP00000375750:P995Q;ENSP00000341957:P1124Q;ENSP00000375751:P357Q	ENSP00000341957:P1124Q	P	-	2	0	TP53BP2	222035212	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.528000	0.81941	2.733000	0.93635	0.591000	0.81541	CCA		0.323	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		4	67	1	0	0.00024832	1	0.0002712	4	67				
PDCD11	22984	broad.mit.edu	37	10	105185237	105185237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105185237C>T	ENST00000369797.3	+	20	3354	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1087	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGGAAGACGGTCACTGCC	0.532																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3259-3261)aCg>aTg		programmed cell death 11							89.0	82.0	84.0					10																	105185237		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105185237C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3260C>T	10.37:g.105185237C>T	ENSP00000358812:p.Thr1087Met						p.T1087M	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	3354	+		Colorectal(252;0.0747)|Breast(234;0.128)	1087			S1 motif 9.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3260C>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193423	0.38707	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.47528	0.84	5.91	-4.78	0.03209	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.969671	0.08574	N	0.925596	T	0.44746	0.1308	L	0.58810	1.83	0.09310	N	1	D	0.65815	0.995	P	0.51055	0.657	T	0.44892	-0.9298	10	0.48119	T	0.1	-1.2989	3.8399	0.08909	0.4537:0.2659:0.1978:0.0826	.	1087	Q14690	RRP5_HUMAN	M	1087	ENSP00000358812:T1087M	ENSP00000358812:T1087M	T	+	2	0	PDCD11	105175227	0.000000	0.05858	0.035000	0.18076	0.492000	0.33523	-0.723000	0.04952	-0.416000	0.07473	-1.281000	0.01382	ACG		0.532	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	15	0	0	0	1	0	10	15				
TRPC5	7224	broad.mit.edu	37	X	111090401	111090401	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111090401G>A	ENST00000262839.2	-	6	2559	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	547					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGCTCATCGATAGCTCTGG	0.393																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1639-1641)atC>atT		transient receptor potential cation channel, subfamily C, member 5							151.0	130.0	138.0					X																	111090401		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090401G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1641C>T	X.37:g.111090401G>A							p.I547I	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			6	2559	-			547					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1641C>T	CCDS14561.1																																																																																				0.393	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		13	168	0	0	0	1	0	13	168				
GPNMB	10457	broad.mit.edu	37	7	23306115	23306115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23306115C>A	ENST00000381990.2	+	7	1195	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	GPNMB_ENST00000453162.2_Missense_Mutation_p.S287Y|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000539136.1_Intron	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	345					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTAAAATCTTATGATTCA	0.363																																						ENST00000381990.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1033-1035)tCt>tAt		glycoprotein (transmembrane) nmb							69.0	68.0	69.0					7																	23306115		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23306115C>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1034C>A	7.37:g.23306115C>A	ENSP00000371420:p.Ser345Tyr					GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.S287Y	p.S345Y	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		7	1195	+			345					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1034C>A	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	6.212	0.407214	0.11754	.	.	ENSG00000136235	ENST00000435486;ENST00000381990;ENST00000425903;ENST00000453162	T;T	0.15718	2.41;2.4	5.63	0.636	0.17729	PKD/Chitinase domain (1);	1.051620	0.07387	N	0.888446	T	0.16642	0.0400	L	0.44542	1.39	0.09310	N	1	P;P	0.45078	0.85;0.593	B;B	0.43575	0.424;0.174	T	0.22941	-1.0202	10	0.56958	D	0.05	-7.5002	5.2885	0.15714	0.0:0.5598:0.1371:0.3031	.	287;345	F5GY20;Q14956	.;GPNMB_HUMAN	Y	380;345;228;287	ENSP00000371420:S345Y;ENSP00000405586:S287Y	ENSP00000371420:S345Y	S	+	2	0	GPNMB	23272640	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.690000	0.25451	0.054000	0.16065	-0.124000	0.14976	TCT		0.363	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		4	67	1	0	0.150653	1	0.152692	4	67				
DNAH7	56171	broad.mit.edu	37	2	196674469	196674469	+	Splice_Site	SNP	C	C	T	rs374999067		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196674469C>T	ENST00000312428.6	-	52	9988	c.9888G>A	c.(9886-9888)gcG>gcA	p.A3296A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3296					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTACTGACCGCCCGCTCAT	0.328																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.e52+1		dynein, axonemal, heavy chain 7		C		0,3664		0,0,1832	65.0	59.0	61.0		9888	6.1	1.0	2		61	1,8157		0,1,4078	no	coding-synonymous-near-splice	DNAH7	NM_018897.2		0,1,5910	TT,TC,CC		0.0123,0.0,0.0085		3296/4025	196674469	1,11821	1832	4079	5911	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196674469C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9888+1G>A	2.37:g.196674469C>T							p.A3296_splice	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			52	9988	-			3296					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	ENST00000312428.6	37	c.9888_splice	CCDS42794.1																																																																																				0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Silent	24	36	0	0	0	1	0	24	36				
ZNF473	25888	broad.mit.edu	37	19	50550015	50550015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50550015G>A	ENST00000595661.1	+	6	2810	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	ZNF473_ENST00000445728.3_Missense_Mutation_p.C760Y|ZNF473_ENST00000270617.3_Missense_Mutation_p.C772Y|ZNF473_ENST00000391821.2_Missense_Mutation_p.C772Y|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	772					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGAGCTCATGCCTTTCTATT	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2314-2316)tGc>tAc		zinc finger protein 473							85.0	82.0	83.0					19																	50550015		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50550015G>A	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2315G>A	19.37:g.50550015G>A	ENSP00000472808:p.Cys772Tyr		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.C772Y|ZNF473_ENST00000445728.3_Missense_Mutation_p.C760Y|ZNF473_ENST00000391821.2_Missense_Mutation_p.C772Y	p.C772Y			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2810	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	772					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2315G>A	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976179	0.34848	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07444	3.19;3.19;3.19	3.95	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000231	T	0.04497	0.0123	N	0.03050	-0.425	0.27385	N	0.955293	D	0.62365	0.991	P	0.51999	0.687	T	0.22452	-1.0216	10	0.02654	T	1	-9.2146	9.9612	0.41697	0.1019:0.0:0.8981:0.0	.	772	Q8WTR7	ZN473_HUMAN	Y	772;772;760	ENSP00000270617:C772Y;ENSP00000375697:C772Y;ENSP00000388961:C760Y	ENSP00000270617:C772Y	C	+	2	0	ZNF473	55241827	0.000000	0.05858	0.791000	0.31998	0.869000	0.49853	-0.781000	0.04648	1.257000	0.44085	0.650000	0.86243	TGC		0.512	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		25	31	0	0	0	1	0	25	31				
DIO2	1734	broad.mit.edu	37	14	80669379	80669379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669379C>T	ENST00000557125.1	-	2	98	c.99G>A	c.(97-99)tgG>tgA	p.W33*	DIO2_ENST00000557010.1_Missense_Mutation_p.V159I|DIO2_ENST00000438257.4_Missense_Mutation_p.V159I|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.V195I			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCAATGTAGACCAGCAGGAAG	0.542											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557125.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(97-99)tgG>tgA		deiodinase, iodothyronine, type II							57.0	60.0	59.0					14																	80669379		2089	4222	6311	SO:0001587	stop_gained	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669379C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557125.1:c.99G>A	14.37:g.80669379C>T	ENSP00000450547:p.Trp33*		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000557010.1_Missense_Mutation_p.V159I|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.V195I|DIO2_ENST00000438257.4_Missense_Mutation_p.V159I	p.W33*			Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	98	-			0					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Nonsense_Mutation	SNP	ENST00000557125.1	37	c.99G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.96|19.96	3.923342|3.923342	0.73213|0.73213	.|.	.|.	ENSG00000211448|ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750|ENST00000557125	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Thioredoxin-like fold (1);|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|.	0.72277|.	0.3440|.	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.85130|.	0.994;0.997;0.994|.	T|.	0.68161|.	-0.5482|.	10|.	0.22109|.	T|.	0.4|.	.|.	19.7712|19.7712	0.96366|0.96366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	195;159;195|.	Q92813-2;Q92813;G3V315|.	.;IOD2_HUMAN;.|.	I|X	159;159;195|33	ENSP00000405854:V159I;ENSP00000451419:V159I;ENSP00000450980:V195I|.	ENSP00000405854:V159I|.	V|W	-|-	1|3	0|0	DIO2|DIO2	79739132|79739132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.625000|7.625000	0.83145|0.83145	2.677000|2.677000	0.91161|0.91161	0.585000|0.585000	0.79938|0.79938	GTC|TGG		0.542	DIO2-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000413753.1			11	27	0	0	0	1	0	11	27				
PCDHB10	56126	broad.mit.edu	37	5	140572975	140572975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140572975G>A	ENST00000239446.4	+	1	1034	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	284	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTTTGATGCCTCAGAAAA	0.378																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(850-852)Gcc>Acc									76.0	81.0	79.0					5																	140572975		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572975G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.850G>A	5.37:g.140572975G>A	ENSP00000239446:p.Ala284Thr						p.A284T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1034	+			284			Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.850G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	6.230	0.410520	0.11812	.	.	ENSG00000120324	ENST00000239446	T	0.50001	0.76	3.41	1.59	0.23543	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45696	0.1355	N	0.17764	0.52	0.09310	N	1	D	0.60575	0.988	P	0.61477	0.889	T	0.27054	-1.0085	9	0.52906	T	0.07	.	7.0427	0.25029	0.2974:0.0:0.7026:0.0	.	284	Q9UN67	PCDBA_HUMAN	T	284	ENSP00000239446:A284T	ENSP00000239446:A284T	A	+	1	0	PCDHB10	140553159	0.000000	0.05858	0.730000	0.30809	0.336000	0.28762	0.244000	0.18124	0.282000	0.22254	0.556000	0.70494	GCC		0.378	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		30	52	0	0	0	1	0	30	52				
OR51T1	401665	broad.mit.edu	37	11	4904038	4904038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4904038G>T	ENST00000322049.1	+	1	909	c.909G>T	c.(907-909)caG>caT	p.Q303H	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.Q330H|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCCGCCAGGCTATGTTCC	0.483																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(988-990)caG>caT		olfactory receptor, family 51, subfamily T, member 1							92.0	88.0	89.0					11																	4904038		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904038G>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.909G>T	11.37:g.4904038G>T	ENSP00000322679:p.Gln303His					MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.Q303H|MMP26_ENST00000380390.1_Intron	p.Q330H	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	990	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	303					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.990G>T		.	.	.	.	.	.	.	.	.	.	G	11.90	1.776697	0.31411	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.38240	1.15;1.15	4.97	0.85	0.18980	.	0.353444	0.20420	N	0.092688	T	0.16257	0.0391	N	0.08118	0	0.25990	N	0.982259	B	0.12630	0.006	B	0.10450	0.005	T	0.14200	-1.0481	10	0.48119	T	0.1	.	6.0215	0.19632	0.2459:0.137:0.617:0.0	.	303	Q8NGJ9	O51T1_HUMAN	H	330;303	ENSP00000369738:Q330H;ENSP00000322679:Q303H	ENSP00000322679:Q303H	Q	+	3	2	OR51T1	4860614	0.000000	0.05858	0.776000	0.31678	0.978000	0.69477	-0.948000	0.03897	0.268000	0.21939	0.491000	0.48974	CAG		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		5	69	1	0	4.096e-09	1	4.95403e-09	5	69				
RCE1	9986	broad.mit.edu	37	11	66612667	66612667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66612667G>A	ENST00000309657.3	+	6	694	c.650G>A	c.(649-651)cGt>cAt	p.R217H	RCE1_ENST00000524506.1_Missense_Mutation_p.R217H|RCE1_ENST00000525356.1_Missense_Mutation_p.R94H	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	217					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAGCAGCTGCGTTTCCGCCAG	0.537																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(649-651)cGt>cAt		Ras converting CAAX endopeptidase 1							152.0	121.0	131.0					11																	66612667		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66612667G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.650G>A	11.37:g.66612667G>A	ENSP00000309163:p.Arg217His					RCE1_ENST00000525356.1_Missense_Mutation_p.R94H|RCE1_ENST00000524506.1_Missense_Mutation_p.R217H	p.R217H	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			6	694	+			217					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.650G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232492	0.79688	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	L	0.38175	1.15	0.53005	D	0.999968	D	0.89917	1.0	D	0.71414	0.973	T	0.65162	-0.6235	9	0.42905	T	0.14	-13.0049	14.9272	0.70887	0.0:0.0:1.0:0.0	.	217	Q9Y256	FACE2_HUMAN	H	217;217;94	.	ENSP00000309163:R217H	R	+	2	0	RCE1	66369243	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.692000	0.61746	2.452000	0.82932	0.655000	0.94253	CGT		0.537	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		15	22	0	0	0	1	0	15	22				
TSPYL1	7259	broad.mit.edu	37	6	116600638	116600638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116600638C>T	ENST00000368608.3	-	1	428	c.356G>A	c.(355-357)cGc>cAc	p.R119H	DSE_ENST00000452085.3_5'Flank|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	119					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TTTCAGGCTGCGGTCGGCTGC	0.672																																						ENST00000368608.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11						c.(355-357)cGc>cAc		TSPY-like 1							33.0	38.0	37.0					6																	116600638		2202	4296	6498	SO:0001583	missense	7259				nucleosome assembly	nucleolus		g.chr6:116600638C>T	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.356G>A	6.37:g.116600638C>T	ENSP00000357597:p.Arg119His					DSE_ENST00000540275.1_Intron	p.R119H	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	428	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	119					O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	c.356G>A	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464317	0.26335	.	.	ENSG00000189241	ENST00000368608;ENST00000545830	T	0.25749	1.78	3.57	-2.57	0.06248	.	.	.	.	.	T	0.05273	0.0140	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40887	-0.9539	9	0.42905	T	0.14	0.2514	8.86	0.35251	0.0:0.4101:0.0:0.5899	.	119	Q9H0U9	TSYL1_HUMAN	H	119	ENSP00000357597:R119H	ENSP00000357597:R119H	R	-	2	0	TSPYL1	116707331	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.879000	0.04188	-0.657000	0.05373	-1.744000	0.00683	CGC		0.672	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			18	36	0	0	0	1	0	18	36				
PKP2	5318	broad.mit.edu	37	12	33030843	33030843	+	Missense_Mutation	SNP	G	G	T	rs397517030|rs529523595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33030843G>T	ENST00000070846.6	-	3	995	c.971C>A	c.(970-972)gCg>gAg	p.A324E	PKP2_ENST00000340811.4_Missense_Mutation_p.A324E	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	324					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCCTGCGGCCGCCTGGCCGAC	0.622																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(970-972)gCg>gAg		plakophilin 2							44.0	42.0	42.0					12																	33030843		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33030843G>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.971C>A	12.37:g.33030843G>T	ENSP00000070846:p.Ala324Glu					PKP2_ENST00000070846.6_Missense_Mutation_p.A324E	p.A324E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	1079	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		324					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.971C>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296613	0.23650	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;T	0.81579	-1.51;-1.45	5.09	-2.36	0.06663	.	0.862214	0.09892	N	0.742238	T	0.74688	0.3749	L	0.38175	1.15	0.28696	N	0.904344	P;P;P	0.46220	0.874;0.8;0.702	P;B;B	0.49140	0.601;0.397;0.352	T	0.66874	-0.5813	10	0.21540	T	0.41	-5.928	10.6606	0.45700	0.308:0.0:0.692:0.0	.	324;324;324	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	E	324	ENSP00000342800:A324E;ENSP00000070846:A324E	ENSP00000070846:A324E	A	-	2	0	PKP2	32922110	0.997000	0.39634	0.880000	0.34516	0.009000	0.06853	1.230000	0.32612	-0.255000	0.09486	-0.985000	0.02557	GCG		0.622	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		17	18	1	0	2.48551e-13	1	3.1506e-13	17	18				
TRPM1	4308	broad.mit.edu	37	15	31362287	31362287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31362287C>A	ENST00000256552.6	-	4	373	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	TRPM1_ENST00000542188.1_Missense_Mutation_p.D93Y|TRPM1_ENST00000397795.2_Missense_Mutation_p.D54Y|TRPM1_ENST00000559179.1_Missense_Mutation_p.D54Y	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATAGGAATCTGTTGGGTAG	0.483																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(277-279)Gat>Tat		transient receptor potential cation channel, subfamily M, member 1							379.0	364.0	369.0					15																	31362287		1941	4150	6091	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362287C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.226G>T	15.37:g.31362287C>A	ENSP00000256552:p.Asp76Tyr					TRPM1_ENST00000559179.1_Missense_Mutation_p.D54Y|TRPM1_ENST00000256552.6_Missense_Mutation_p.D76Y|TRPM1_ENST00000397795.2_Missense_Mutation_p.D54Y	p.D93Y	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	590	-		all_lung(180;1.92e-11)	54						Missense_Mutation	SNP	ENST00000256552.6	37	c.277G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592420	0.86953	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.65549	-0.16;-0.16;-0.16	5.73	5.73	0.89815	.	0.000000	0.64402	U	0.000001	D	0.84638	0.5516	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.963	D	0.86972	0.2098	10	0.87932	D	0	-27.4768	20.27	0.98469	0.0:1.0:0.0:0.0	.	54;54	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	Y	54;93;76;54	ENSP00000380897:D54Y;ENSP00000437849:D93Y;ENSP00000256552:D76Y	ENSP00000256552:D76Y	D	-	1	0	TRPM1	29149579	1.000000	0.71417	0.113000	0.21522	0.913000	0.54294	7.363000	0.79516	2.854000	0.98071	0.655000	0.94253	GAT		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		71	457	1	0	2.23399e-28	1	2.98541e-28	71	457				
CAPG	822	broad.mit.edu	37	2	85628938	85628938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85628938C>A	ENST00000409921.1	-	3	232	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CAPG_ENST00000263867.4_Nonsense_Mutation_p.E56*|CAPG_ENST00000409724.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000409670.1_Nonsense_Mutation_p.E56*			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GAAACCTCTTCTGGGCCATTG	0.607																																						ENST00000263867.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(166-168)Gaa>Taa		capping protein (actin filament), gelsolin-like							98.0	94.0	96.0					2																	85628938		2203	4300	6503	SO:0001587	stop_gained	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628938C>A	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.166G>T	2.37:g.85628938C>A	ENSP00000387063:p.Glu56*					CAPG_ENST00000409670.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409724.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409921.1_Nonsense_Mutation_p.E56*	p.E56*	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN			3	415	-			56					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	ENST00000409921.1	37	c.166G>T	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	36	5.748715	0.96882	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000409921;ENST00000409670;ENST00000409724;ENST00000439385;ENST00000449030;ENST00000447219;ENST00000409275	.	.	.	5.85	5.85	0.93711	.	0.351580	0.33496	N	0.004851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	15.6543	0.77121	0.0:1.0:0.0:0.0	.	.	.	.	X	56	.	ENSP00000263867:E56X	E	-	1	0	CAPG	85482449	0.912000	0.30974	0.447000	0.26932	0.871000	0.50021	2.796000	0.47869	2.767000	0.95098	0.563000	0.77884	GAA		0.607	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		35	43	1	0	6.90743e-12	1	8.64953e-12	35	43				
GRHL3	57822	broad.mit.edu	37	1	24657946	24657946	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24657946C>T	ENST00000350501.5	+	2	175	c.48C>T	c.(46-48)gaC>gaT	p.D16D	GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Silent_p.D21D|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000361548.4_Silent_p.D16D	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	16					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAAGAACGACCCAGTCAACT	0.507																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(46-48)gaC>gaT		grainyhead-like 3 (Drosophila)							110.0	107.0	108.0					1																	24657946		2203	4300	6503	SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24657946C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.48C>T	1.37:g.24657946C>T						GRHL3_ENST00000236255.4_Silent_p.D21D|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000350501.5_Silent_p.D16D|GRHL3_ENST00000342072.4_5'UTR	p.D16D	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	2	278	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	16					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.48C>T	CCDS252.2																																																																																				0.507	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		16	40	0	0	0	1	0	16	40				
RTEL1	51750	broad.mit.edu	37	20	62293280	62293280	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62293280C>T	ENST00000360203.5	+	4	704	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	RTEL1_ENST00000370018.3_Missense_Mutation_p.R127W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R127W|RTEL1_ENST00000318100.4_Missense_Mutation_p.R127W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R127W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAACGAGCTTCGGAACACCTC	0.552																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(379-381)Cgg>Tgg		regulator of telomere elongation helicase 1							134.0	104.0	114.0					20																	62293280		2203	4300	6503	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62293280C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.379C>T	20.37:g.62293280C>T	ENSP00000353332:p.Arg127Trp					RTEL1_ENST00000508582.2_Missense_Mutation_p.R127W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R127W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R127W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R127W	p.R127W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		4	1206	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		127			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000360203.5	37	c.379C>T		.	.	.	.	.	.	.	.	.	.	C	16.80	3.222786	0.58668	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	4.84	2.61	0.31194	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.190858	0.44483	D	0.000455	D	0.83464	0.5260	M	0.85373	2.75	0.35853	D	0.826897	D;D;D;D	0.89917	1.0;0.978;1.0;1.0	D;P;D;D	0.76575	0.978;0.715;0.987;0.988	D	0.88326	0.2965	10	0.87932	D	0	-33.3337	11.6717	0.51406	0.4248:0.5752:0.0:0.0	.	127;127;127;127	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	127	ENSP00000359035:R127W;ENSP00000322287:R127W;ENSP00000424307:R127W;ENSP00000353332:R127W;ENSP00000349265:R127W	ENSP00000349265:R127W	R	+	1	2	AL353715.1	61763724	0.999000	0.42202	0.948000	0.38648	0.455000	0.32408	4.321000	0.59209	0.999000	0.39023	0.462000	0.41574	CGG		0.552	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	28	0	0	0	1	0	3	28				
MMP15	4324	broad.mit.edu	37	16	58073914	58073914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58073914G>T	ENST00000219271.3	+	4	1361	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	192					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TGCGGCGACAGAAGGAGGCCG	0.647																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(574-576)caG>caT		matrix metallopeptidase 15 (membrane-inserted)							70.0	62.0	65.0					16																	58073914		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58073914G>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.576G>T	16.37:g.58073914G>T	ENSP00000219271:p.Gln192His						p.Q192H	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			4	1361	+			192					A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.576G>T	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455934	0.43634	.	.	ENSG00000102996	ENST00000219271	T	0.21932	1.98	4.69	2.69	0.31865	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.189298	0.47455	D	0.000222	T	0.09774	0.0240	N	0.02721	-0.515	0.27760	N	0.943841	P	0.37573	0.6	B	0.42282	0.382	T	0.10917	-1.0609	10	0.37606	T	0.19	.	7.2678	0.26239	0.2082:0.0:0.7918:0.0	.	192	P51511	MMP15_HUMAN	H	192	ENSP00000219271:Q192H	ENSP00000219271:Q192H	Q	+	3	2	MMP15	56631415	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.222000	0.32515	0.943000	0.37553	0.462000	0.41574	CAG		0.647	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		4	44	1	0	0.00909568	1	0.00947522	4	44				
FUT2	2524	broad.mit.edu	37	19	49206262	49206262	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206262C>A	ENST00000425340.2	+	2	166	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	FUT2_ENST00000391876.4_Missense_Mutation_p.L17I	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	17					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CCACTTCATCCTCTTTGTCTT	0.542																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(49-51)Ctc>Atc		fucosyltransferase 2 (secretor status included)							290.0	253.0	266.0					19																	49206262		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206262C>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.49C>A	19.37:g.49206262C>A	ENSP00000387498:p.Leu17Ile					FUT2_ENST00000391876.4_Missense_Mutation_p.L17I	p.L17I	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	166	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	17					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.49C>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537653	0.27475	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.98044	-4.68;-4.17;-4.17	4.05	0.581	0.17407	.	.	.	.	.	D	0.94374	0.8191	L	0.56769	1.78	0.20873	N	0.99984	B	0.16166	0.016	B	0.11329	0.006	D	0.84814	0.0792	9	0.18710	T	0.47	.	3.4029	0.07330	0.21:0.5654:0.0:0.2245	.	17	Q10981	FUT2_HUMAN	I	17	ENSP00000430227:L17I;ENSP00000387498:L17I;ENSP00000375748:L17I	ENSP00000375748:L17I	L	+	1	0	FUT2	53898074	0.040000	0.19996	0.250000	0.24296	0.083000	0.17756	-0.065000	0.11617	0.101000	0.17610	0.543000	0.68304	CTC		0.542	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		12	175	1	0	0.000151284	1	0.000166931	12	175				
HEATR2	54919	broad.mit.edu	37	7	780575	780575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:780575G>T	ENST00000297440.6	+	3	920	c.900G>T	c.(898-900)gaG>gaT	p.E300D	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.E300D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	300						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGGTGCCTGAGGTCAGGTACG	0.597																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(898-900)gaG>gaT		HEAT repeat containing 2							118.0	100.0	106.0					7																	780575		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:780575G>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.900G>T	7.37:g.780575G>T	ENSP00000297440:p.Glu300Asp					HEATR2_ENST00000313147.5_Missense_Mutation_p.E300D|HEATR2_ENST00000438961.1_3'UTR	p.E300D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	3	920	+		Ovarian(82;0.0112)	300					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.900G>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.04|11.04	1.521216|1.521216	0.27211|0.27211	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862|ENST00000437419;ENST00000440747	T;T|.	0.64260|.	-0.09;-0.09|.	4.66|4.66	-7.02|-7.02	0.01589|0.01589	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.570045|.	0.15457|.	N|.	0.261357|.	T|T	0.35219|0.35219	0.0924|0.0924	L|L	0.49640|0.49640	1.575|1.575	0.20703|0.20703	N|N	0.999864|0.999864	B;B|.	0.29232|.	0.145;0.238|.	B;B|.	0.34301|.	0.179;0.178|.	T|T	0.38478|0.38478	-0.9659|-0.9659	10|5	0.24483|.	T|.	0.36|.	-4.0349|-4.0349	8.2841|8.2841	0.31917|0.31917	0.484:0.2674:0.2486:0.0|0.484:0.2674:0.2486:0.0	.|.	300;46|.	Q86Y56;F5H8D4|.	HEAT2_HUMAN;.|.	D|C	300;300;46|73;102	ENSP00000297440:E300D;ENSP00000321451:E300D|.	ENSP00000297440:E300D|.	E|G	+|+	3|1	2|0	HEATR2|HEATR2	747101|747101	0.375000|0.375000	0.25089|0.25089	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.286000|-0.286000	0.08399|0.08399	-1.674000|-1.674000	0.01461|0.01461	-0.859000|-0.859000	0.03014|0.03014	GAG|GGT		0.597	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		5	92	1	0	5.9392e-07	1	6.91975e-07	5	92				
PPARGC1B	133522	broad.mit.edu	37	5	149212524	149212524	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212524C>A	ENST00000309241.5	+	5	920	c.888C>A	c.(886-888)acC>acA	p.T296T	PPARGC1B_ENST00000394320.3_Silent_p.T296T|PPARGC1B_ENST00000360453.4_Silent_p.T257T|PPARGC1B_ENST00000403750.1_Silent_p.T232T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	296					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACATGCACACCTACTGCCTCC	0.667																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(886-888)acC>acA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							45.0	53.0	50.0					5																	149212524		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212524C>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.888C>A	5.37:g.149212524C>A						PPARGC1B_ENST00000403750.1_Silent_p.T232T|PPARGC1B_ENST00000360453.4_Silent_p.T257T|PPARGC1B_ENST00000394320.3_Silent_p.T296T	p.T296T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	920	+			296					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.888C>A	CCDS4298.1																																																																																				0.667	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		21	40	1	0	1.96895e-08	1	2.35655e-08	21	40				
LRIT3	345193	broad.mit.edu	37	4	110791214	110791214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791214G>A	ENST00000594814.1	+	4	1309	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	LRIT3_ENST00000379920.3_Missense_Mutation_p.A392T|LRIT3_ENST00000409621.2_Missense_Mutation_p.A254T|LRIT3_ENST00000327908.3_Missense_Mutation_p.A254T	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	437					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TACCACCATGGCCAACAAGCG	0.468																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(760-762)Gcc>Acc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							110.0	108.0	108.0					4																	110791214		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791214G>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1309G>A	4.37:g.110791214G>A	ENSP00000469759:p.Ala437Thr					LRIT3_ENST00000409621.2_Missense_Mutation_p.A254T|LRIT3_ENST00000594814.1_Missense_Mutation_p.A437T|LRIT3_ENST00000379920.3_Missense_Mutation_p.A392T	p.A254T			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1524	+			392			Ig-like.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.760G>A	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	8.359	0.832634	0.16820	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57595	0.39;0.56;0.39	4.95	2.81	0.32909	.	1.426990	0.03836	N	0.269872	T	0.34048	0.0884	N	0.08118	0	0.09310	N	1	B;B	0.17852	0.024;0.018	B;B	0.16722	0.01;0.016	T	0.17623	-1.0363	10	0.12103	T	0.63	.	10.332	0.43829	0.2611:0.0:0.7389:0.0	.	392;254	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	T	254;392;254	ENSP00000328222:A254T;ENSP00000369252:A392T;ENSP00000386734:A254T	ENSP00000328222:A254T	A	+	1	0	LRIT3	111010663	0.000000	0.05858	0.012000	0.15200	0.018000	0.09664	0.683000	0.25349	1.043000	0.40175	0.655000	0.94253	GCC		0.468	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		30	32	0	0	0	1	0	30	32				
KIAA0226	9711	broad.mit.edu	37	3	197444963	197444963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444963G>A	ENST00000296343.5	-	2	103	c.104C>T	c.(103-105)aCg>aTg	p.T35M	KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T35M|KIAA0226_ENST00000273582.5_De_novo_Start_InFrame|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T35M	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	35					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACCCTCCACCGTCGTCTTCAA	0.512																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31								KIAA0226							96.0	96.0	96.0					3																	197444963		1975	4156	6131	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197444963G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.104C>T	3.37:g.197444963G>A	ENSP00000296343:p.Thr35Met					KIAA0226_ENST00000296343.5_Missense_Mutation_p.T35M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T35M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T35M		NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	0	469	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)							Q96CK5	Translation_Start_Site	SNP	ENST00000296343.5	37		CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.690119	0.88735	.	.	ENSG00000145016	ENST00000296343;ENST00000389665;ENST00000449205	T;T;T	0.12039	2.72;2.72;2.72	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01102	-1.1451	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	35;35	E9PEM3;Q92622	.;RUBIC_HUMAN	M	35	ENSP00000296343:T35M;ENSP00000374316:T35M;ENSP00000390962:T35M	ENSP00000296343:T35M	T	-	2	0	KIAA0226	198929360	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	9.178000	0.94855	2.738000	0.93877	0.655000	0.94253	ACG		0.512	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		28	23	0	0	0	1	0	28	23				
CCL4L1	9560	broad.mit.edu	37	17	34539909	34539909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34539909G>A	ENST00000444414.1	+	3	451	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	CCL4L1_ENST00000400702.4_3'UTR|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000591167.1_3'UTR|CCL4L1_ENST00000591637.1_3'UTR|CCL4L1_ENST00000378350.4_3'UTR|CCL4L1_ENST00000358756.5_Silent_p.K34K|CCL4L1_ENST00000389068.5_Silent_p.K29K|CCL4L1_ENST00000378352.4_Missense_Mutation_p.V73I|CCL4L1_ENST00000588929.1_Missense_Mutation_p.V68I|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000589079.1_3'UTR			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 1	73					cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)							Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCAAGCAAGTCTGCGCTGA	0.522																																						ENST00000588929.1																			0											c.(202-204)Gtc>Atc		chemokine (C-C motif) ligand 4-like 1							126.0	63.0	96.0					17																	34539909		1883	1783	3666	SO:0001583	missense	9560							g.chr17:34539909G>A	X53682	CCDS32627.1	17q12	2014-04-11	2003-07-17	2005-04-27	ENSG00000205020	ENSG00000276070		"""Chemokine ligands"""	10631	protein-coding gene	gene with protein product		610757	"""small inducible cytokine A4-like"", ""chemokine (C-C motif) ligand 4-like"""	SCYA4L, CCL4L		8661057, 1972563, 15028295	Standard	XM_006710030		Approved	AT744.2, LAG-1		Q8NHW4	OTTHUMG00000188420	ENST00000444414.1:c.217G>A	17.37:g.34539909G>A	ENSP00000405533:p.Val73Ile					CCL4L1_ENST00000389068.5_Silent_p.K29K|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000591167.1_3'UTR|CCL4L1_ENST00000444414.1_Missense_Mutation_p.V73I|CCL4L1_ENST00000378352.4_Missense_Mutation_p.V73I|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000358756.5_Silent_p.K34K|CCL4L1_ENST00000400702.4_3'UTR|CCL4L1_ENST00000589079.1_3'UTR|CCL4L1_ENST00000378350.4_3'UTR|CCL4L1_ENST00000591637.1_3'UTR	p.V68I	NM_001001435.2	NP_001001435.1				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	281	+		Breast(25;0.102)|Ovarian(249;0.17)						B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Missense_Mutation	SNP	ENST00000444414.1	37	c.202G>A	CCDS32627.1	.	.	.	.	.	.	.	.	.	.	G	3.107	-0.183460	0.06340	.	.	ENSG00000205020	ENST00000444414;ENST00000361022;ENST00000378352	T;T	0.05855	3.38;3.38	2.88	-0.865	0.10662	.	.	.	.	.	T	0.02533	0.0077	.	.	.	0.54753	D	0.999983	B	0.25850	0.136	B	0.22152	0.038	T	0.48210	-0.9055	8	0.12430	T	0.62	.	2.0378	0.03543	0.3387:0.0:0.4032:0.2581	.	68	Q8NHW4-2	.	I	73;74;73	ENSP00000405533:V73I;ENSP00000367603:V73I	ENSP00000354299:V74I	V	+	1	0	CCL4L1	31564022	0.001000	0.12720	0.975000	0.42487	0.325000	0.28411	-0.723000	0.04952	0.106000	0.17784	0.064000	0.15345	GTC		0.522	CCL4L1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450625.1	NM_001001435		4	51	0	0	0	1	0	4	51				
USP33	23032	broad.mit.edu	37	1	78183609	78183609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78183609C>A	ENST00000370793.1	-	18	2300	c.1954G>T	c.(1954-1956)Gct>Tct	p.A652S	USP33_ENST00000357428.1_Missense_Mutation_p.A652S|USP33_ENST00000370792.3_Missense_Mutation_p.A644S|USP33_ENST00000370794.3_Missense_Mutation_p.A621S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	652	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAATTTGAGCTGGACTATCC	0.363																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1954-1956)Gct>Tct		ubiquitin specific peptidase 33							127.0	130.0	129.0					1																	78183609		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78183609C>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1954G>T	1.37:g.78183609C>A	ENSP00000359829:p.Ala652Ser					USP33_ENST00000357428.1_Missense_Mutation_p.A652S|USP33_ENST00000370792.3_Missense_Mutation_p.A644S|USP33_ENST00000370794.3_Missense_Mutation_p.A621S	p.A652S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			18	2300	-			652					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1954G>T	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.865|2.865	-0.235305|-0.235305	0.05983|0.05983	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792|ENST00000481579	T;T;T;T|.	0.28255|.	4.32;1.62;1.62;4.32|.	4.7|4.7	0.462|0.462	0.16695|0.16695	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.622982|.	0.17457|.	N|.	0.173584|.	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.04018|0.04018	-0.295|-0.295	0.32698|0.32698	N|N	0.513267|0.513267	B;B;B|.	0.12013|.	0.001;0.004;0.005|.	B;B;B|.	0.16289|.	0.004;0.009;0.015|.	T|T	0.33879|0.33879	-0.9851|-0.9851	10|5	0.02654|.	T|.	1|.	.|.	8.1677|8.1677	0.31237|0.31237	0.0:0.5776:0.0:0.4224|0.0:0.5776:0.0:0.4224	.|.	644;621;652|.	Q8TEY7-3;Q8TEY7-2;Q8TEY7|.	.;.;UBP33_HUMAN|.	S|H	621;652;652;644|256	ENSP00000359830:A621S;ENSP00000359829:A652S;ENSP00000350009:A652S;ENSP00000359828:A644S|.	ENSP00000350009:A652S|.	A|Q	-|-	1|3	0|2	USP33|USP33	77956197|77956197	0.023000|0.023000	0.18921|0.18921	0.947000|0.947000	0.38551|0.38551	0.970000|0.970000	0.65996|0.65996	0.360000|0.360000	0.20250|0.20250	-0.097000|-0.097000	0.12307|0.12307	-0.253000|-0.253000	0.11424|0.11424	GCT|CAG		0.363	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		49	134	1	0	2.27781e-18	1	2.96919e-18	49	134				
PLEKHA7	144100	broad.mit.edu	37	11	16837804	16837804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16837804G>A	ENST00000355661.3	-	12	1884	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S625F|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S625F			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	625	Interaction with CTNND1.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCCACATGAGATGAGTTCTG	0.567																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1873-1875)tCt>tTt		pleckstrin homology domain containing, family A member 7							89.0	77.0	81.0					11																	16837804		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16837804G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1874C>T	11.37:g.16837804G>A	ENSP00000347883:p.Ser625Phe					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S625F|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S625F	p.S625F			Q6IQ23	PKHA7_HUMAN			12	1884	-			625			Interaction with CTNND1.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1874C>T	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.17|13.17	2.156909|2.156909	0.38119|0.38119	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.37058	.|1.22;1.22;1.22	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.052211	.|0.85682	.|D	.|0.000000	T|T	0.44307|0.44307	0.1287|0.1287	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P;P;P	.|0.52061	.|0.789;0.863;0.895;0.95	.|P;P;P;P	.|0.54889	.|0.581;0.534;0.48;0.763	T|T	0.07790|0.07790	-1.0754|-1.0754	5|10	.|0.11182	.|T	.|0.66	-11.4113|-11.4113	19.7785|19.7785	0.96405|0.96405	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|199;625;625;625	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	F|F	256|625	.|ENSP00000435389:S625F;ENSP00000347883:S625F;ENSP00000416895:S625F	.|ENSP00000347883:S625F	L|S	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16794380|16794380	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.170000|0.170000	0.22686|0.22686	6.791000|6.791000	0.75120|0.75120	2.667000|2.667000	0.90743|0.90743	0.563000|0.563000	0.77884|0.77884	CTC|TCT		0.567	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		9	19	0	0	0	1	0	9	19				
ATM	472	broad.mit.edu	37	11	108163424	108163424	+	Silent	SNP	C	C	T	rs540798997		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163424C>T	ENST00000452508.2	+	31	4704	c.4515C>T	c.(4513-4515)gcC>gcT	p.A1505A	ATM_ENST00000278616.4_Silent_p.A1505A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1505					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCCAGACAGCCGTGACTTACT	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.001					ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4513-4515)gcC>gcT	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							253.0	226.0	235.0					11																	108163424		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108163424C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4515C>T	11.37:g.108163424C>T		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.A1505A	p.A1505A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	30	4900	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1505					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.4515C>T	CCDS31669.1																																																																																				0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		79	127	0	0	0	1	0	79	127				
IFIT5	24138	broad.mit.edu	37	10	91177747	91177747	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91177747C>A	ENST00000371795.4	+	2	1004	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.S216Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	264					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AGAAAAAATTCCTGGAACAAA	0.433																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(790-792)tCc>tAc		interferon-induced protein with tetratricopeptide repeats 5							78.0	83.0	81.0					10																	91177747		2202	4299	6501	SO:0001583	missense	24138						binding	g.chr10:91177747C>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.791C>A	10.37:g.91177747C>A	ENSP00000360860:p.Ser264Tyr					IFIT5_ENST00000416601.1_Missense_Mutation_p.S216Y	p.S264Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1004	+			264					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.791C>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754368	0.15778	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;D	0.87966	0.6;-2.32	5.79	1.61	0.23674	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.564999	0.19778	N	0.106284	D	0.82403	0.5029	L	0.48362	1.52	0.09310	N	1	P;P	0.49253	0.822;0.921	P;P	0.51487	0.58;0.671	T	0.70575	-0.4834	10	0.09843	T	0.71	-2.548	4.0885	0.09958	0.3168:0.4036:0.2077:0.0719	.	264;216	Q13325;B4DDV1	IFIT5_HUMAN;.	Y	264;216	ENSP00000360860:S264Y;ENSP00000414042:S216Y	ENSP00000360860:S264Y	S	+	2	0	IFIT5	91167727	0.000000	0.05858	0.870000	0.34147	0.993000	0.82548	0.038000	0.13862	0.341000	0.23771	0.655000	0.94253	TCC		0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		8	63	1	0	3.09899e-07	1	3.63227e-07	8	63				
CSNK1A1L	122011	broad.mit.edu	37	13	37678880	37678880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37678880G>A	ENST00000379800.3	-	1	923	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TACGGTATGTGTTGCCTGGTC	0.458																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(514-516)Cac>Tac		casein kinase 1, alpha 1-like							233.0	213.0	220.0					13																	37678880		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678880G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.514C>T	13.37:g.37678880G>A	ENSP00000369126:p.His172Tyr						p.H172Y	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	923	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	172			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.514C>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898328	0.52227	.	.	ENSG00000180138	ENST00000379800	T	0.10763	2.84	1.04	1.04	0.20106	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	H	0.98446	4.235	0.46028	D	0.998821	D	0.89917	1.0	D	0.97110	1.0	T	0.54662	-0.8260	10	0.87932	D	0	.	7.9732	0.30140	0.0:0.0:1.0:0.0	.	172	Q8N752	KC1AL_HUMAN	Y	172	ENSP00000369126:H172Y	ENSP00000369126:H172Y	H	-	1	0	CSNK1A1L	36576880	1.000000	0.71417	0.968000	0.41197	0.817000	0.46193	6.669000	0.74462	0.866000	0.35629	0.556000	0.70494	CAC		0.458	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		37	50	0	0	0	1	0	37	50				
KIF26A	26153	broad.mit.edu	37	14	104639572	104639572	+	Missense_Mutation	SNP	C	C	T	rs371178408		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104639572C>T	ENST00000423312.2	+	8	1679	c.1679C>T	c.(1678-1680)gCg>gTg	p.A560V	KIF26A_ENST00000315264.7_Missense_Mutation_p.A421V	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	560	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGTGTGGGGCGCAGGTGCGC	0.701																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1261-1263)gCg>gTg		kinesin family member 26A		C	VAL/ALA	0,4072		0,0,2036	17.0	23.0	21.0		1679	4.3	0.8	14		21	1,8275		0,1,4137	yes	missense	KIF26A	NM_015656.1	64	0,1,6173	TT,TC,CC		0.0121,0.0,0.0081	possibly-damaging	560/1883	104639572	1,12347	2036	4138	6174	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104639572C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1679C>T	14.37:g.104639572C>T	ENSP00000388241:p.Ala560Val					KIF26A_ENST00000423312.2_Missense_Mutation_p.A560V	p.A421V			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	7	1640	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	560			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.1262C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160602	0.57368	0.0	1.21E-4	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.72394	-0.65;-0.65	5.18	4.27	0.50696	Kinesin, motor domain (4);	.	.	.	.	T	0.36799	0.0980	N	0.00583	-1.355	0.28426	N	0.917495	P	0.49090	0.919	B	0.38655	0.278	T	0.26710	-1.0095	9	0.15499	T	0.54	.	15.397	0.74805	0.0:0.8599:0.1401:0.0	.	560	Q9ULI4	KI26A_HUMAN	V	560;421	ENSP00000388241:A560V;ENSP00000325452:A421V	ENSP00000325452:A421V	A	+	2	0	KIF26A	103709325	1.000000	0.71417	0.765000	0.31456	0.333000	0.28666	4.717000	0.61923	1.112000	0.41740	0.462000	0.41574	GCG		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			7	27	0	0	0	1	0	7	27				
TCHH	7062	broad.mit.edu	37	1	152082035	152082035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082035G>A	ENST00000368804.1	-	2	3657	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1220					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCACTGCGCTGATCCTCA	0.517																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3658-3660)Cgc>Tgc		trichohyalin							123.0	124.0	123.0					1																	152082035		2095	4215	6310	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082035G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3658C>T	1.37:g.152082035G>A	ENSP00000357794:p.Arg1220Cys						p.R1220C	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3657	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1220					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3658C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772753	0.49680	.	.	ENSG00000159450	ENST00000368804	T	0.07800	3.16	3.87	-2.85	0.05734	.	.	.	.	.	T	0.01523	0.0049	L	0.27053	0.805	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.46748	-0.9169	9	0.66056	D	0.02	.	4.3817	0.11297	0.1831:0.0:0.3846:0.4323	.	1220	Q07283	TRHY_HUMAN	C	1220	ENSP00000357794:R1220C	ENSP00000357794:R1220C	R	-	1	0	TCHH	150348659	0.034000	0.19679	0.002000	0.10522	0.605000	0.37080	0.129000	0.15830	-0.525000	0.06391	0.462000	0.41574	CGC		0.517	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		42	36	0	0	0	1	0	42	36				
INO80B	83444	broad.mit.edu	37	2	74683276	74683276	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74683276A>C	ENST00000233331.7	+	4	511	c.417A>C	c.(415-417)ggA>ggC	p.G139G	WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000409917.1_Silent_p.G139G|WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	139					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						ACCTATCAGGAGGGTTAGGGG	0.517																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(415-417)ggA>ggC		INO80 complex subunit B							82.0	81.0	82.0					2																	74683276		2203	4300	6503	SO:0001819	synonymous_variant	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74683276A>C	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.417A>C	2.37:g.74683276A>C						INO80B_ENST00000409917.1_Silent_p.G139G|INO80B_ENST00000469849.1_3'UTR	p.G139G	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			4	511	+			139						Silent	SNP	ENST00000233331.7	37	c.417A>C	CCDS1942.2																																																																																				0.517	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		16	27	0	0	0	1	0	16	27				
COPB2	9276	broad.mit.edu	37	3	139092254	139092254	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092254G>A	ENST00000333188.5	-	9	1076	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	COPB2_ENST00000507777.1_Splice_Site_p.L270F	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	299					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCCGACCAAGCTGAAAGAAA	0.408																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.e9-1		coatomer protein complex, subunit beta 2 (beta prime)							58.0	56.0	57.0					3																	139092254		2203	4300	6503	SO:0001630	splice_region_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139092254G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.895-1C>T	3.37:g.139092254G>A						COPB2_ENST00000507777.1_Splice_Site_p.L270_splice	p.L299_splice	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			9	1076	-			299					B4DZI8	Splice_Site	SNP	ENST00000333188.5	37	c.894_splice	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748664	0.49257	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.21031	2.29;2.03	5.36	5.36	0.76844	WD40 repeat-like-containing domain (1);	0.057191	0.64402	D	0.000002	T	0.33760	0.0874	M	0.87456	2.885	0.80722	D	1	B	0.26577	0.153	B	0.30646	0.118	T	0.25293	-1.0136	10	0.72032	D	0.01	-0.8988	12.7652	0.57388	0.0758:0.0:0.9242:0.0	.	299	P35606	COPB2_HUMAN	F	299;270	ENSP00000329419:L299F;ENSP00000422295:L270F	ENSP00000329419:L299F	L	-	1	0	COPB2	140574944	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.188000	0.50958	2.668000	0.90789	0.591000	0.81541	CTT		0.408	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	Missense_Mutation	4	29	0	0	0	1	0	4	29				
FCGR2A	2212	broad.mit.edu	37	1	161483700	161483700	+	Missense_Mutation	SNP	C	C	T	rs149146966		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161483700C>T	ENST00000271450.6	+	6	796	c.758C>T	c.(757-759)cCt>cTt	p.P253L	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.P252L	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	253					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCACTGATCCTGTGAAGGCT	0.488																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(757-759)cCt>cTt		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	C	LEU/PRO,LEU/PRO	1,4405		0,1,2202	308.0	302.0	304.0		758,755	-1.1	0.0	1	dbSNP_134	304	0,8600		0,0,4300	no	missense,missense	FCGR2A	NM_001136219.1,NM_021642.3	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	253/318,252/317	161483700	1,13005	2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161483700C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.758C>T	1.37:g.161483700C>T	ENSP00000271450:p.Pro253Leu					FCGR2A_ENST00000367972.4_Missense_Mutation_p.P252L|FCGR2A_ENST00000461298.1_5'UTR|FCGR2A_ENST00000467525.1_Intron	p.P253L	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	796	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		253					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.758C>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	4.319	0.058479	0.08339	2.27E-4	0.0	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01854	4.6;4.6	2.16	-1.11	0.09840	.	0.173442	0.27773	N	0.017911	T	0.00552	0.0018	L	0.42245	1.32	0.25344	N	0.988929	B;B	0.12013	0.003;0.005	B;B	0.08055	0.002;0.003	T	0.49021	-0.8982	9	0.21540	T	0.41	.	2.7131	0.05180	0.0:0.3877:0.2554:0.3569	.	253;252	P12318;P12318-2	FCG2A_HUMAN;.	L	252;253	ENSP00000356949:P252L;ENSP00000271450:P253L	ENSP00000271450:P253L	P	+	2	0	FCGR2A	159750324	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.366000	0.07563	-0.292000	0.08999	-1.080000	0.02220	CCT		0.488	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		48	176	0	0	0	1	0	48	176				
TCEB3B	51224	broad.mit.edu	37	18	44559560	44559560	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559560G>A	ENST00000332567.4	-	1	2428	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	692					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ctctgccaccgccgctgctgc	0.667																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2074-2076)ggC>ggT		transcription elongation factor B polypeptide 3B (elongin A2)							32.0	37.0	35.0					18																	44559560		2202	4299	6501	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559560G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2076C>T	18.37:g.44559560G>A						KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.G692G	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2428	-			692					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.2076C>T	CCDS11932.1																																																																																				0.667	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		4	46	0	0	0	1	0	4	46				
EXTL3	2137	broad.mit.edu	37	8	28574068	28574068	+	Silent	SNP	C	C	T	rs371856118	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28574068C>T	ENST00000220562.4	+	3	1394	c.492C>T	c.(490-492)gaC>gaT	p.D164D	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	164					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CAGAGAAGGACGATGCCGGCC	0.602													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20298	0.0		0.0	False		,,,				2504	0.001					ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(490-492)gaC>gaT		exostosin-like glycosyltransferase 3		C		0,4406		0,0,2203	59.0	58.0	58.0		492	-8.2	0.2	8		58	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	EXTL3	NM_001440.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		164/920	28574068	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574068C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.492C>T	8.37:g.28574068C>T						EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.D164D	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1394	+		Ovarian(32;0.069)	164					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.492C>T	CCDS6070.1																																																																																				0.602	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		12	29	0	0	0	1	0	12	29				
USP48	84196	broad.mit.edu	37	1	22047590	22047590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22047590A>G	ENST00000308271.9	-	14	2481	c.1833T>C	c.(1831-1833)gaT>gaC	p.D611D	USP48_ENST00000400301.1_Silent_p.D611D|USP48_ENST00000529637.1_Silent_p.D610D|USP48_ENST00000374732.3_Silent_p.D149D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	611	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATCTTGCTCATCCAGCTGTT	0.438																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1831-1833)gaT>gaC		ubiquitin specific peptidase 48							237.0	203.0	215.0					1																	22047590		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22047590A>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1833T>C	1.37:g.22047590A>G						USP48_ENST00000400301.1_Silent_p.D611D|USP48_ENST00000374732.3_Silent_p.D149D|USP48_ENST00000529637.1_Silent_p.D610D	p.D611D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	14	2481	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	611			DUSP 2.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.1833T>C	CCDS30623.1																																																																																				0.438	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		46	79	0	0	0	1	0	46	79				
PHC1	1911	broad.mit.edu	37	12	9089802	9089802	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9089802G>A	ENST00000543824.1	+	14	2840	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	PHC1_ENST00000536844.1_Silent_p.R442R|PHC1_ENST00000544916.1_Silent_p.R836R|PHC1_ENST00000433083.2_Silent_p.R791R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	836					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATCAGTTCCGGCTGAAGAGGA	0.502																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2371-2373)cgG>cgA		polyhomeotic homolog 1 (Drosophila)							46.0	45.0	45.0					12																	9089802		2203	4300	6503	SO:0001819	synonymous_variant	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9089802G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2508G>A	12.37:g.9089802G>A						PHC1_ENST00000544916.1_Silent_p.R836R|PHC1_ENST00000543824.1_Silent_p.R836R|PHC1_ENST00000536844.1_Silent_p.R442R	p.R791R			P78364	PHC1_HUMAN			12	2518	+			836					D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	c.2373G>A	CCDS8597.1																																																																																				0.502	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		4	56	0	0	0	1	0	4	56				
LPO	4025	broad.mit.edu	37	17	56329583	56329583	+	Missense_Mutation	SNP	G	G	A	rs371935176		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56329583G>A	ENST00000262290.4	+	8	1137	c.821G>A	c.(820-822)tGc>tAc	p.C274Y	LPO_ENST00000543544.1_Missense_Mutation_p.C215Y|LPO_ENST00000582328.1_Missense_Mutation_p.C191Y|LPO_ENST00000421678.2_Missense_Mutation_p.C191Y	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	274					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAAGGGAAATGCATGCCTTTC	0.607																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(820-822)tGc>tAc		lactoperoxidase		G	TYR/CYS,TYR/CYS	0,4406		0,0,2203	97.0	84.0	89.0		572,821	5.3	1.0	17		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LPO	NM_001160102.1,NM_006151.2	194,194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	191/630,274/713	56329583	1,13005	2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56329583G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.821G>A	17.37:g.56329583G>A	ENSP00000262290:p.Cys274Tyr					LPO_ENST00000543544.1_Missense_Mutation_p.C215Y|LPO_ENST00000421678.2_Missense_Mutation_p.C191Y|LPO_ENST00000582328.1_Missense_Mutation_p.C191Y	p.C274Y	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			8	1137	+			274					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.821G>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622369	0.87460	0.0	1.16E-4	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.75477	-0.94;-0.94;-0.94	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.89343	0.6688	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	D	0.91635	0.5322	10	0.87932	D	0	.	17.9406	0.89025	0.0:0.0:1.0:0.0	.	191;274	E7EMJ3;P22079	.;PERL_HUMAN	Y	274;191;215;19	ENSP00000262290:C274Y;ENSP00000400245:C191Y;ENSP00000445344:C215Y	ENSP00000262290:C274Y	C	+	2	0	LPO	53684582	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.679000	0.91220	2.480000	0.83734	0.655000	0.94253	TGC		0.607	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			17	23	0	0	0	1	0	17	23				
CELSR3	1951	broad.mit.edu	37	3	48679324	48679324	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48679324G>A	ENST00000164024.4	-	32	9064	c.8784C>T	c.(8782-8784)tgC>tgT	p.C2928C	CELSR3_ENST00000544264.1_Silent_p.C2933C|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2928					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCTGCTCGGCAGAGTGGCC	0.617																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8797-8799)tgC>tgT		cadherin, EGF LAG seven-pass G-type receptor 3							12.0	14.0	14.0					3																	48679324		2193	4286	6479	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48679324G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8784C>T	3.37:g.48679324G>A						CELSR3_ENST00000164024.4_Silent_p.C2928C	p.C2933C			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	33	9079	-			2928					O75092	Silent	SNP	ENST00000164024.4	37	c.8799C>T	CCDS2775.1																																																																																				0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	3	0	0	0	1	0	4	3				
APOB	338	broad.mit.edu	37	2	21236129	21236129	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21236129G>A	ENST00000233242.1	-	25	4246	c.4119C>T	c.(4117-4119)taC>taT	p.Y1373Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1373					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCACCACTGTAGGAGGCGG	0.512																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4117-4119)taC>taT		apolipoprotein B	Atorvastatin(DB01076)						202.0	185.0	191.0					2																	21236129		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236129G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4119C>T	2.37:g.21236129G>A							p.Y1373Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4246	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1373					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.4119C>T	CCDS1703.1																																																																																				0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	190	0	0	0	1	0	8	190				
ZNF318	24149	broad.mit.edu	37	6	43310568	43310568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43310568G>A	ENST00000361428.2	-	7	3199	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A1041V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1041					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGGCTTTCGGCAGGCTTGGG	0.458																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3121-3123)gCc>gTc		zinc finger protein 318							89.0	92.0	91.0					6																	43310568		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43310568G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3122C>T	6.37:g.43310568G>A	ENSP00000354964:p.Ala1041Val					ZNF318_ENST00000318149.3_Missense_Mutation_p.A1041V	p.A1041V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		7	3199	-			1041					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.3122C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284222	0.23392	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.33654	1.4;2.63	5.74	3.94	0.45596	.	0.699535	0.14202	N	0.334640	T	0.10035	0.0246	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.28650	-1.0037	10	0.49607	T	0.09	-0.4625	12.9041	0.58141	0.1339:0.0:0.8661:0.0	.	1041	Q5VUA4	ZN318_HUMAN	V	1041	ENSP00000323032:A1041V;ENSP00000354964:A1041V	ENSP00000323032:A1041V	A	-	2	0	ZNF318	43418546	0.886000	0.30341	0.595000	0.28798	0.720000	0.41350	2.920000	0.48844	0.757000	0.33036	0.557000	0.71058	GCC		0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		29	43	0	0	0	1	0	29	43				
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T	rs551194665		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1894-1896)cgC>cgT									31.0	34.0	33.0					5																	140516912		1994	3940	5934	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516912C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1896C>T	5.37:g.140516912C>T							p.R632R	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2113	+			632			Cadherin 6.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1896C>T	CCDS4247.1																																																																																				0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		32	24	0	0	0	1	0	32	24				
OVOS2	144203	broad.mit.edu	37	12	31269385	31269385	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31269385C>T	ENST00000542490.1	-	0	70																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						GGTAGGAGAACATTGTACTTA	0.358																																						ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41															71.0	70.0	70.0					12																	31269385		1808	4065	5873			0							g.chr12:31269385C>T																													12.37:g.31269385C>T														0	70	-									RNA	SNP	ENST00000542490.1	37																																																																																						0.358	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			23	35	0	0	0	1	0	23	35				
RNF185	91445	broad.mit.edu	37	22	31583084	31583084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31583084G>A	ENST00000326132.6	+	2	163	c.4G>A	c.(4-6)Gca>Aca	p.A2T	RNF185_ENST00000426256.2_5'UTR|RNF185_ENST00000266252.7_Missense_Mutation_p.A2T	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	2					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						GCCAAGGATGGCAAGCAAGGG	0.607																																						ENST00000326132.5																			0				NS(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(4-6)Gca>Aca		ring finger protein 185							70.0	76.0	74.0					22																	31583084		2203	4300	6503	SO:0001583	missense	91445					integral to membrane	zinc ion binding	g.chr22:31583084G>A		CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"""RING-type (C3HC4) zinc fingers"""	26783	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38628"""					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.4G>A	22.37:g.31583084G>A	ENSP00000320508:p.Ala2Thr					RNF185_ENST00000266252.7_Missense_Mutation_p.A2T|RNF185_ENST00000426256.2_5'UTR	p.A2T	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN			2	163	+			2					A8K5C1|A9X3T8|Q8N900	Missense_Mutation	SNP	ENST00000326132.6	37	c.4G>A	CCDS13890.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107893	0.77096	.	.	ENSG00000138942	ENST00000326132;ENST00000436825;ENST00000266252	D	0.95205	-3.64	5.62	5.62	0.85841	.	0.264556	0.42821	D	0.000644	D	0.94456	0.8216	N	0.19112	0.55	0.80722	D	1	D;D	0.60575	0.988;0.98	P;P	0.62885	0.908;0.811	D	0.95316	0.8416	10	0.66056	D	0.02	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	2;2	Q96GF1-2;Q96GF1	.;RN185_HUMAN	T	2	ENSP00000320508:A2T	ENSP00000266252:A2T	A	+	1	0	RNF185	29913084	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.562000	0.82300	2.665000	0.90641	0.650000	0.86243	GCA		0.607	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267		38	67	0	0	0	1	0	38	67				
ZFP3	124961	broad.mit.edu	37	17	4995471	4995471	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4995471C>A	ENST00000318833.3	+	2	1008	c.672C>A	c.(670-672)ccC>ccA	p.P224P		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAGAGAGACCCTATAAATGTG	0.383																																						ENST00000318833.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(670-672)ccC>ccA		ZFP3 zinc finger protein							69.0	76.0	74.0					17																	4995471		2203	4300	6503	SO:0001819	synonymous_variant	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4995471C>A	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.672C>A	17.37:g.4995471C>A							p.P224P	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	1008	+			224					A5PLL4	Silent	SNP	ENST00000318833.3	37	c.672C>A	CCDS11067.1																																																																																				0.383	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		6	70	1	0	0.248553	1	0.25002	6	70				
CDHR2	54825	broad.mit.edu	37	5	176016106	176016106	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176016106C>T	ENST00000510636.1	+	22	3205	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	CDHR2_ENST00000261944.5_Silent_p.D977D|CDHR2_ENST00000506348.1_Silent_p.D977D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	977	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCTAAGGACGGGGCCACCA	0.577																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2929-2931)gaC>gaT		cadherin-related family member 2							230.0	221.0	224.0					5																	176016106		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016106C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2931C>T	5.37:g.176016106C>T						CDHR2_ENST00000506348.1_Silent_p.D977D|CDHR2_ENST00000261944.5_Silent_p.D977D	p.D977D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			22	3205	+			977			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2931C>T	CCDS34297.1																																																																																				0.577	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		84	146	0	0	0	1	0	84	146				
ACAA1	30	broad.mit.edu	37	3	38164583	38164583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38164583C>T	ENST00000333167.8	-	12	1402	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Silent_p.G369G|ACAA1_ENST00000301810.7_Silent_p.G317G|Y_RNA_ENST00000365095.1_RNA|DLEC1_ENST00000308059.6_3'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	410					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCATTCCAGTCCCGATGCACA	0.567																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(1228-1230)ggG>ggA		acetyl-CoA acyltransferase 1							94.0	82.0	86.0					3																	38164583		2203	4300	6503	SO:0001819	synonymous_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38164583C>T	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1230G>A	3.37:g.38164583C>T						ACAA1_ENST00000301810.7_Silent_p.G317G|ACAA1_ENST00000450296.1_Silent_p.G369G|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000480865.1_5'UTR	p.G410G	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	12	1402	-			410					G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.1230G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	3.681	-0.065514	0.07273	.	.	ENSG00000060971	ENST00000452171	D	0.85702	-2.02	5.48	-2.85	0.05734	.	0.000000	0.85682	D	0.000000	D	0.84929	0.5581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80743	-0.1246	7	0.87932	D	0	-22.1694	7.387	0.26888	0.0:0.2759:0.4221:0.302	.	.	.	.	E	223	ENSP00000391078:G223E	ENSP00000391078:G223E	G	-	2	0	ACAA1	38139587	0.980000	0.34600	0.150000	0.22450	0.361000	0.29550	0.128000	0.15810	-0.535000	0.06307	-2.069000	0.00389	GGA		0.567	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		16	26	0	0	0	1	0	16	26				
CH25H	9023	broad.mit.edu	37	10	90966941	90966941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90966941G>A	ENST00000371852.2	-	1	130	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	37					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GGGAAGAAGGGCGACTGTAGG	0.647																																						ENST00000371852.2																			0				kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7						c.(109-111)Ccc>Tcc		cholesterol 25-hydroxylase							32.0	37.0	35.0					10																	90966941		2203	4300	6503	SO:0001583	missense	9023				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding	g.chr10:90966941G>A	AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"""Fatty acid hydroxylase domain containing"""	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.109C>T	10.37:g.90966941G>A	ENSP00000360918:p.Pro37Ser						p.P37S	NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN		GBM - Glioblastoma multiforme(2;0.000133)	1	130	-		Colorectal(252;0.0161)	37					B2RBY3	Missense_Mutation	SNP	ENST00000371852.2	37	c.109C>T	CCDS7400.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221352	0.79464	.	.	ENSG00000138135	ENST00000371852	T	0.69806	-0.43	5.1	4.18	0.49190	.	0.057242	0.64402	D	0.000001	T	0.80675	0.4668	M	0.79926	2.475	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	T	0.79165	-0.1916	10	0.21014	T	0.42	-38.3725	14.7514	0.69528	0.0:0.1456:0.8544:0.0	.	37	O95992	CH25H_HUMAN	S	37	ENSP00000360918:P37S	ENSP00000360918:P37S	P	-	1	0	CH25H	90956921	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	6.437000	0.73421	1.242000	0.43836	0.650000	0.86243	CCC		0.647	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956		4	6	0	0	0	1	0	4	6				
MMACHC	25974	broad.mit.edu	37	1	45974726	45974726	+	Nonsense_Mutation	SNP	C	C	T	rs201183360		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45974726C>T	ENST00000401061.4	+	4	968	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	230					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGCCCAACGATTGGCCCT	0.587																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(688-690)Cga>Tga		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						94.0	104.0	101.0					1																	45974726		1982	4153	6135	SO:0001587	stop_gained	25974						cobalamin binding	g.chr1:45974726C>T		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.688C>T	1.37:g.45974726C>T	ENSP00000383840:p.Arg230*						p.R230*	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	968	+	Acute lymphoblastic leukemia(166;0.155)		230					Q5T157|Q9BRQ7	Nonsense_Mutation	SNP	ENST00000401061.4	37	c.688C>T	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961995	0.92791	.	.	ENSG00000132763	ENST00000401061	.	.	.	5.28	3.36	0.38483	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6061	12.4389	0.55614	0.4366:0.5634:0.0:0.0	.	.	.	.	X	230	.	ENSP00000383840:R230X	R	+	1	2	MMACHC	45747313	1.000000	0.71417	0.999000	0.59377	0.206000	0.24218	3.295000	0.51794	0.765000	0.33221	-0.309000	0.09137	CGA		0.587	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		4	95	0	0	0	1	0	4	95				
TMEM26	219623	broad.mit.edu	37	10	63170129	63170129	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170129G>T	ENST00000399298.3	-	6	1426	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	353						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCCCGCAAAGGAATAGCCAG	0.582																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1057-1059)cCt>cAt		transmembrane protein 26							54.0	64.0	61.0					10																	63170129		1879	4112	5991	SO:0001583	missense	219623					integral to membrane		g.chr10:63170129G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.1058C>A	10.37:g.63170129G>T	ENSP00000382237:p.Pro353His					TMEM26_ENST00000507507.1_5'UTR	p.P353H	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1426	-	Prostate(12;0.0112)		353					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.1058C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103470	0.76983	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.75	5.75	0.90469	.	0.072542	0.56097	D	0.000035	T	0.63283	0.2498	L	0.34521	1.04	0.80722	D	1	D	0.58620	0.983	P	0.54499	0.754	T	0.65405	-0.6176	9	0.72032	D	0.01	-9.9544	19.956	0.97218	0.0:0.0:1.0:0.0	.	353	Q6ZUK4	TMM26_HUMAN	H	353	.	ENSP00000382237:P353H	P	-	2	0	TMEM26	62840135	0.983000	0.35010	0.038000	0.18304	0.017000	0.09413	6.324000	0.72896	2.723000	0.93209	0.655000	0.94253	CCT		0.582	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		5	36	1	0	0.014758	1	0.0152625	5	36				
LRRK1	79705	broad.mit.edu	37	15	101566188	101566188	+	Missense_Mutation	SNP	G	G	A	rs141579296	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101566188G>A	ENST00000388948.3	+	17	2610	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	LRRK1_ENST00000284395.5_Missense_Mutation_p.V748M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAAACGCCGTGGTGCTGGT	0.587													G|||	2	0.000399361	0.0	0.0014	5008	,	,		21240	0.0		0.001	False		,,,				2504	0.0					ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2242-2244)Gtg>Atg		leucine-rich repeat kinase 1							88.0	100.0	96.0					15																	101566188		2075	4191	6266	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101566188G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2251G>A	15.37:g.101566188G>A	ENSP00000373600:p.Val751Met					LRRK1_ENST00000388948.3_Missense_Mutation_p.V751M	p.V748M			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		18	2642	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		751			Roc.			Missense_Mutation	SNP	ENST00000388948.3	37	c.2242G>A	CCDS42086.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	18.74	3.689273	0.68271	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.67865	-0.29;-0.29	4.95	4.95	0.65309	ROC GTPase (1);Mitochondrial Rho-like (1);	0.130505	0.50627	D	0.000101	T	0.57975	0.2090	L	0.47190	1.495	0.38579	D	0.950131	P	0.38745	0.645	B	0.28709	0.093	T	0.65664	-0.6113	10	0.45353	T	0.12	.	18.2273	0.89921	0.0:0.0:1.0:0.0	.	751	Q38SD2	LRRK1_HUMAN	M	751;748	ENSP00000373600:V751M;ENSP00000284395:V748M	ENSP00000284395:V748M	V	+	1	0	LRRK1	99383711	1.000000	0.71417	0.933000	0.37362	0.734000	0.41952	7.169000	0.77578	2.289000	0.77006	0.561000	0.74099	GTG		0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		7	68	0	0	0	1	0	7	68				
AP2A1	160	broad.mit.edu	37	19	50302934	50302934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50302934G>A	ENST00000359032.5	+	10	1183	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	AP2A1_ENST00000354293.5_Missense_Mutation_p.A395T	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	395					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCTCTACGCCATGTGTGA	0.632																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1183-1185)Gcc>Acc		adaptor-related protein complex 2, alpha 1 subunit							61.0	66.0	65.0					19																	50302934		2203	4300	6503	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302934G>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1183G>A	19.37:g.50302934G>A	ENSP00000351926:p.Ala395Thr					AP2A1_ENST00000359032.5_Missense_Mutation_p.A395T	p.A395T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	10	1349	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	395					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1183G>A	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521778	0.96416	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.26067	1.76;1.76	4.52	4.52	0.55395	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.46816	-0.9164	10	0.38643	T	0.18	.	16.1546	0.81649	0.0:0.0:1.0:0.0	.	395;395	O95782-2;O95782	.;AP2A1_HUMAN	T	395	ENSP00000346246:A395T;ENSP00000351926:A395T	ENSP00000346246:A395T	A	+	1	0	AP2A1	54994746	1.000000	0.71417	0.987000	0.45799	0.957000	0.61999	9.306000	0.96204	2.345000	0.79718	0.561000	0.74099	GCC		0.632	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			17	41	0	0	0	1	0	17	41				
PARS2	25973	broad.mit.edu	37	1	55224353	55224353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55224353G>A	ENST00000371279.3	-	2	564	c.482C>T	c.(481-483)gCc>gTc	p.A161V		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	161					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGCCGTAATGGCTTCCTCGTG	0.532																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(481-483)gCc>gTc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						216.0	211.0	213.0					1																	55224353		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224353G>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.482C>T	1.37:g.55224353G>A	ENSP00000360327:p.Ala161Val						p.A161V	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	564	-			161					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.482C>T	CCDS597.1	.	.	.	.	.	.	.	.	.	.	G	8.274	0.814032	0.16537	.	.	ENSG00000162396	ENST00000371279	T	0.67523	-0.27	4.99	0.837	0.18896	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.273881	0.34906	N	0.003596	T	0.34745	0.0908	N	0.03967	-0.31	0.53005	D	0.999961	B	0.15141	0.012	B	0.24269	0.052	T	0.33548	-0.9864	10	0.02654	T	1	-8.8577	9.4135	0.38507	0.4667:0.0:0.5333:0.0	.	161	Q7L3T8	SYPM_HUMAN	V	161	ENSP00000360327:A161V	ENSP00000360327:A161V	A	-	2	0	PARS2	54996941	1.000000	0.71417	0.527000	0.27925	0.460000	0.32559	3.161000	0.50747	0.457000	0.26962	-0.253000	0.11424	GCC		0.532	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		73	119	0	0	0	1	0	73	119				
MAP4K3	8491	broad.mit.edu	37	2	39499678	39499678	+	Silent	SNP	G	G	A	rs200427628		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39499678G>A	ENST00000263881.3	-	25	2124	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	MAP4K3_ENST00000341681.5_Silent_p.F579F|MAP4K3_ENST00000437545.1_Silent_p.F516F|MAP4K3_ENST00000536018.1_Silent_p.F153F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	600	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACCTTCGAGGGAATAGCTGAT	0.303																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1798-1800)ttC>ttT		mitogen-activated protein kinase kinase kinase kinase 3							69.0	72.0	71.0					2																	39499678		2203	4299	6502	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499678G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1800C>T	2.37:g.39499678G>A						MAP4K3_ENST00000341681.5_Silent_p.F579F|MAP4K3_ENST00000536018.1_Silent_p.F153F|MAP4K3_ENST00000437545.1_Silent_p.F516F	p.F600F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			25	2124	-		all_hematologic(82;0.211)	600			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.1800C>T	CCDS1803.1																																																																																				0.303	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		6	58	0	0	0	1	0	6	58				
PCLO	27445	broad.mit.edu	37	7	82545693	82545693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82545693G>T	ENST00000333891.9	-	7	11946	c.11609C>A	c.(11608-11610)cCa>cAa	p.P3870Q	PCLO_ENST00000437081.1_Missense_Mutation_p.P590Q|PCLO_ENST00000423517.2_Missense_Mutation_p.P3870Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGTTTGTGGTGGTATAAA	0.478																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11608-11610)cCa>cAa		piccolo presynaptic cytomatrix protein							496.0	491.0	492.0					7																	82545693		2019	4184	6203	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545693G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11609C>A	7.37:g.82545693G>T	ENSP00000334319:p.Pro3870Gln					PCLO_ENST00000437081.1_Missense_Mutation_p.P590Q|PCLO_ENST00000333891.8_Missense_Mutation_p.P3870Q	p.P3870Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11946	-			3801			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.11609C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539140	0.65085	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19105	2.17;2.17	5.71	5.71	0.89125	.	.	.	.	.	T	0.48572	0.1507	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.43442	-0.9391	9	0.87932	D	0	.	19.8534	0.96748	0.0:0.0:1.0:0.0	.	3801;3870;3870	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3870;3870;590	ENSP00000334319:P3870Q;ENSP00000388393:P3870Q	ENSP00000334319:P3870Q	P	-	2	0	PCLO	82383629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.711000	0.92665	0.563000	0.77884	CCA		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		24	499	1	0	1.5548e-18	1	2.02858e-18	24	499				
KRT19P2	160313	broad.mit.edu	37	12	95228215	95228215	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95228215A>T	ENST00000405395.2	+	0	0				MIR492_ENST00000385303.1_RNA	NR_036685.1				keratin 19 pseudogene 2																		GACCTGCGGGACAAGATTCTT	0.532																																						ENST00000385303.1																			0																				107.0	99.0	102.0					12																	95228215		1568	3582	5150			0							g.chr12:95228215A>T			12q22	2013-06-25			ENSG00000216306	ENSG00000216306			33423	pseudogene	pseudogene			"""keratin 19 pseudogene 5"""	KRT19P5			Standard	NR_036685		Approved		uc001tdk.2		OTTHUMG00000170700		12.37:g.95228215A>T								NR_030171.1						0	42	+									RNA	SNP	ENST00000405395.2	37																																																																																						0.532	KRT19P2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410053.1	NT_019546		10	18	0	0	0	1	0	10	18				
RBBP6	5930	broad.mit.edu	37	16	24567681	24567681	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24567681G>T	ENST00000319715.4	+	7	1019	c.587G>T	c.(586-588)aGa>aTa	p.R196I	RBBP6_ENST00000348022.2_Missense_Mutation_p.R196I|RBBP6_ENST00000381039.3_Missense_Mutation_p.R196I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	196					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGAATTCCCAGAAGTTTCATG	0.368																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(586-588)aGa>aTa		retinoblastoma binding protein 6							89.0	85.0	86.0					16																	24567681		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567681G>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.587G>T	16.37:g.24567681G>T	ENSP00000317872:p.Arg196Ile					RBBP6_ENST00000348022.2_Missense_Mutation_p.R196I|RBBP6_ENST00000381039.3_Missense_Mutation_p.R196I	p.R196I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	7	1019	+			196					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.587G>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176681	0.78564	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.22336	1.96;2.14;2.19	5.68	5.68	0.88126	.	0.062472	0.64402	D	0.000003	T	0.51669	0.1688	M	0.79805	2.47	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.996;0.994	D;D;P	0.70227	0.968;0.93;0.852	T	0.53279	-0.8461	10	0.87932	D	0	-31.6733	20.1553	0.98111	0.0:0.0:1.0:0.0	.	196;196;196	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	I	196	ENSP00000370427:R196I;ENSP00000317872:R196I;ENSP00000316291:R196I	ENSP00000317872:R196I	R	+	2	0	RBBP6	24475182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.598000	0.46223	2.838000	0.97847	0.591000	0.81541	AGA		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		22	33	1	0	2.89027e-11	1	3.59474e-11	22	33				
SLC25A2	83884	broad.mit.edu	37	5	140683316	140683316	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140683316C>T	ENST00000239451.4	-	1	296	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	39					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGTCAGGGAACGTCTGCATCT	0.612																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(115-117)acG>acA		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						88.0	85.0	86.0					5																	140683316		2203	4300	6503	SO:0001819	synonymous_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683316C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.117G>A	5.37:g.140683316C>T							p.T39T	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	296	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	39					Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	c.117G>A	CCDS4258.1																																																																																				0.612	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		4	58	0	0	0	1	0	4	58				
KRT77	374454	broad.mit.edu	37	12	53086375	53086375	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53086375C>A	ENST00000341809.3	-	7	1285	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.Q186H	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	419	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGGAGGGCCTGCTCGCCTC	0.582																																						ENST00000341809.3																			0				NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1255-1257)caG>caT		keratin 77							47.0	43.0	45.0					12																	53086375		2202	4268	6470	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53086375C>A	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1257G>T	12.37:g.53086375C>A	ENSP00000342710:p.Gln419His					KRT77_ENST00000537195.1_Missense_Mutation_p.Q186H	p.Q419H	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN			7	1285	-			419			Coil 2.|Rod.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.1257G>T	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.136335	0.01742	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.85955	-2.05;-1.76	4.39	-1.14	0.09741	Filament (1);	.	.	.	.	T	0.64527	0.2606	N	0.04768	-0.165	0.09310	N	0.999996	B	0.11235	0.004	B	0.20577	0.03	T	0.52888	-0.8515	9	0.49607	T	0.09	.	1.0952	0.01672	0.2306:0.3756:0.1132:0.2806	.	419	Q7Z794	K2C1B_HUMAN	H	419;186	ENSP00000342710:Q419H;ENSP00000440803:Q186H	ENSP00000342710:Q419H	Q	-	3	2	KRT77	51372642	0.000000	0.05858	0.010000	0.14722	0.016000	0.09150	-0.174000	0.09839	-0.172000	0.10779	-0.492000	0.04666	CAG		0.582	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		14	31	1	0	3.45872e-05	1	3.88335e-05	14	31				
PRKAA2	5563	broad.mit.edu	37	1	57170134	57170134	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57170134G>T	ENST00000371244.4	+	7	1345	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	427					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GAAGCAGCTGGATTTTGAATG	0.373																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1279-1281)Gat>Tat		protein kinase, AMP-activated, alpha 2 catalytic subunit							80.0	83.0	82.0					1																	57170134		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57170134G>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1279G>T	1.37:g.57170134G>T	ENSP00000360290:p.Asp427Tyr						p.D427Y	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			7	1345	+			427					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1279G>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770651	0.69992	.	.	ENSG00000162409	ENST00000371244	T	0.73897	-0.79	6.17	6.17	0.99709	.	0.393403	0.33040	N	0.005351	T	0.80226	0.4584	M	0.70595	2.14	0.50313	D	0.999867	P	0.46859	0.885	P	0.45946	0.498	T	0.81355	-0.0970	10	0.72032	D	0.01	-21.135	20.8794	0.99867	0.0:0.0:1.0:0.0	.	427	P54646	AAPK2_HUMAN	Y	427	ENSP00000360290:D427Y	ENSP00000360290:D427Y	D	+	1	0	PRKAA2	56942722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.198000	0.72106	2.941000	0.99782	0.655000	0.94253	GAT		0.373	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		10	105	1	0	2.17888e-05	1	2.45068e-05	10	105				
MUC16	94025	broad.mit.edu	37	19	9024862	9024862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9024862G>A	ENST00000397910.4	-	16	37203	c.37000C>T	c.(37000-37002)Ccc>Tcc	p.P12334S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12336	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGTGTAGGGGCCCAGCTCT	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37000-37002)Ccc>Tcc		mucin 16, cell surface associated							165.0	154.0	158.0					19																	9024862		1979	4163	6142	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9024862G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37000C>T	19.37:g.9024862G>A	ENSP00000381008:p.Pro12334Ser						p.P12334S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			16	37203	-			12336			SEA 2.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37000C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.09	1.535217	0.27475	.	.	ENSG00000181143	ENST00000397910	T	0.23754	1.89	2.73	-3.05	0.05396	.	.	.	.	.	T	0.20941	0.0504	L	0.58969	1.84	.	.	.	B	0.16603	0.018	B	0.23574	0.047	T	0.40831	-0.9542	8	0.87932	D	0	.	2.6905	0.05119	0.2555:0.0:0.3927:0.3518	.	12334	B5ME49	.	S	12334	ENSP00000381008:P12334S	ENSP00000381008:P12334S	P	-	1	0	MUC16	8885862	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.438000	0.06905	-0.448000	0.07128	0.430000	0.28490	CCC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		70	80	0	0	0	1	0	70	80				
ARHGEF15	22899	broad.mit.edu	37	17	8218780	8218780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8218780C>T	ENST00000361926.3	+	7	1419	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R437W	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	437	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCGCTCCCTGCGGCTGCTGAC	0.607																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1309-1311)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 15							124.0	116.0	119.0					17																	8218780		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8218780C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1309C>T	17.37:g.8218780C>T	ENSP00000355026:p.Arg437Trp					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R437W	p.R437W	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			7	1419	+			437			DH.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1309C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.157462	0.78114	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.32023	1.47;1.47	5.04	1.72	0.24424	Dbl homology (DH) domain (5);	0.365247	0.28338	N	0.015711	T	0.43964	0.1271	L	0.56769	1.78	0.31335	N	0.684297	D;D	0.76494	0.999;0.999	P;P	0.60609	0.877;0.877	T	0.52275	-0.8597	10	0.72032	D	0.01	-12.493	10.5333	0.44990	0.5224:0.4776:0.0:0.0	.	437;437	D3DTR7;O94989	.;ARHGF_HUMAN	W	437;227;437	ENSP00000355026:R437W;ENSP00000412505:R437W	ENSP00000355026:R437W	R	+	1	2	ARHGEF15	8159505	0.392000	0.25229	0.998000	0.56505	0.991000	0.79684	0.200000	0.17257	0.220000	0.20860	0.561000	0.74099	CGG		0.607	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		8	126	0	0	0	1	0	8	126				
FXR1	8087	broad.mit.edu	37	3	180652995	180652995	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180652995A>G	ENST00000357559.4	+	3	558	c.174A>G	c.(172-174)gaA>gaG	p.E58E	FXR1_ENST00000480918.1_Silent_p.E45E|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000445140.2_Silent_p.E58E|FXR1_ENST00000468861.1_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	58					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAAAAAGAAATTAGTGAAG	0.303																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(172-174)gaA>gaG		fragile X mental retardation, autosomal homolog 1							61.0	63.0	62.0					3																	180652995		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180652995A>G	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.174A>G	3.37:g.180652995A>G						FXR1_ENST00000480918.1_Silent_p.E45E|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000445140.2_Silent_p.E58E	p.E58E	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		3	558	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		58					A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.174A>G	CCDS3238.1																																																																																				0.303	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			5	36	0	0	0	1	0	5	36				
NCOR1	9611	broad.mit.edu	37	17	16021243	16021243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16021243G>A	ENST00000268712.3	-	18	2271	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*	NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R563*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R672*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	672	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATTGTGTCGCCTTTTATAG	0.373																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(2014-2016)Cga>Tga		nuclear receptor corepressor 1							173.0	150.0	157.0					17																	16021243		2202	4300	6502	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16021243G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2014C>T	17.37:g.16021243G>A	ENSP00000268712:p.Arg672*					NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R672*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R563*	p.R672*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	18	2271	-			672			SANT 2.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.2014C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	38	7.139634	0.98088	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	.	.	.	5.98	2.65	0.31530	.	0.111906	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9931	14.1918	0.65644	0.0:0.0:0.5199:0.4801	.	.	.	.	X	672;672;563;563	.	ENSP00000268712:R672X	R	-	1	2	NCOR1	15961968	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.856000	0.48341	0.812000	0.34326	0.650000	0.86243	CGA		0.373	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		8	66	0	0	0	1	0	8	66				
IGFN1	91156	broad.mit.edu	37	1	201187676	201187676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201187676C>T	ENST00000335211.4	+	18	9918	c.9788C>T	c.(9787-9789)gCg>gTg	p.A3263V	IGFN1_ENST00000295591.8_Missense_Mutation_p.A423V	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	806						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGACGGTGGCGGACGTGCGG	0.622																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9787-9789)gCg>gTg		immunoglobulin-like and fibronectin type III domain containing 1							70.0	63.0	65.0					1																	201187676		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201187676C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9788C>T	1.37:g.201187676C>T	ENSP00000334714:p.Ala3263Val					IGFN1_ENST00000295591.8_Missense_Mutation_p.A423V	p.A3263V	NM_001164586.1	NP_001158058.1					18	9918	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9788C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764963	0.49574	.	.	ENSG00000163395	ENST00000335211;ENST00000295591	T;T	0.56776	0.44;0.44	4.77	-9.54	0.00572	.	1.196270	0.06003	N	0.648083	T	0.24812	0.0602	N	0.04636	-0.2	0.09310	N	1	B	0.29590	0.25	B	0.27715	0.082	T	0.31081	-0.9956	10	0.26408	T	0.33	.	11.7491	0.51839	0.1811:0.7097:0.0:0.1092	.	3263	F8WAI1	.	V	3263;423	ENSP00000334714:A3263V;ENSP00000295591:A423V	ENSP00000295591:A423V	A	+	2	0	IGFN1	199454299	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.078000	0.03413	-2.425000	0.00561	-0.367000	0.07326	GCG		0.622	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		14	16	0	0	0	1	0	14	16				
SLC39A5	283375	broad.mit.edu	37	12	56631045	56631045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56631045G>T	ENST00000266980.4	+	10	1693	c.1400G>T	c.(1399-1401)aGc>aTc	p.S467I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.S467I|SLC39A5_ENST00000419232.1_3'UTR|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	467					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGGGGCTCAGCCTGGGCCCT	0.647																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1399-1401)aGc>aTc		solute carrier family 39 (zinc transporter), member 5							62.0	65.0	64.0					12																	56631045		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56631045G>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1400G>T	12.37:g.56631045G>T	ENSP00000266980:p.Ser467Ile					SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.S467I	p.S467I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			10	1693	+			467					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.1400G>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855653	0.91355	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.54675	0.56;0.56	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000002	T	0.68897	0.3051	L	0.57130	1.785	0.58432	D	0.999996	D	0.76494	0.999	D	0.75020	0.985	T	0.70219	-0.4932	10	0.56958	D	0.05	-1.8575	17.1368	0.86742	0.0:0.0:1.0:0.0	.	467	Q6ZMH5	S39A5_HUMAN	I	467	ENSP00000405360:S467I;ENSP00000266980:S467I	ENSP00000266980:S467I	S	+	2	0	SLC39A5	54917312	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	6.913000	0.75759	2.669000	0.90835	0.561000	0.74099	AGC		0.647	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		16	27	1	0	9.16793e-09	1	1.10245e-08	16	27				
NACAP1	83955	broad.mit.edu	37	8	102381656	102381656	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102381656G>A	ENST00000419462.1	+	0	1068					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		CGATGAAACAGGTGTAGAAAT	0.423																																						ENST00000419462.1																			0																																																			0							g.chr8:102381656G>A	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381656G>A								NR_002182.1						0	1068	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.423	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		16	37	0	0	0	1	0	16	37				
FAAH	2166	broad.mit.edu	37	1	46871725	46871725	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46871725G>T	ENST00000243167.8	+	6	885	c.801G>T	c.(799-801)aaG>aaT	p.K267N	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	267					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTGGCCTGAAGGGCTGTGTCT	0.612											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(799-801)aaG>aaT		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						79.0	80.0	80.0					1																	46871725		2203	4300	6503	SO:0001583	missense	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46871725G>T	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.801G>T	1.37:g.46871725G>T	ENSP00000243167:p.Lys267Asn		OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	FAAH_ENST00000493735.1_3'UTR	p.K267N	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			6	885	+	Acute lymphoblastic leukemia(166;0.155)		267					D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.801G>T	CCDS535.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784153	0.31593	.	.	ENSG00000117480	ENST00000243167	T	0.54279	0.58	4.5	4.5	0.54988	Amidase signature domain (2);	0.898946	0.09739	N	0.762154	T	0.41003	0.1140	L	0.28556	0.865	0.42169	D	0.991638	B	0.28801	0.223	B	0.27715	0.082	T	0.10520	-1.0626	10	0.16420	T	0.52	-9.9131	12.5887	0.56432	0.0:0.0:1.0:0.0	.	267	O00519	FAAH1_HUMAN	N	267	ENSP00000243167:K267N	ENSP00000243167:K267N	K	+	3	2	FAAH	46644312	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.851000	0.48302	2.336000	0.79503	0.655000	0.94253	AAG		0.612	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		25	47	1	0	2.48779e-11	1	3.09936e-11	25	47				
PHKG1	5260	broad.mit.edu	37	7	56145875	56145875	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56145875C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000437307.2_Silent_p.N155N|SUMF2_ENST00000395436.2_Silent_p.N228N|SUMF2_ENST00000342190.6_Silent_p.N243N|SUMF2_ENST00000434526.2_Silent_p.N243N|SUMF2_ENST00000413756.1_Silent_p.N224N|SUMF2_ENST00000275607.9_Silent_p.N136N|SUMF2_ENST00000395435.2_Silent_p.N159N	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCAGAACAACTACGGTAAGA	0.567																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(727-729)aaC>aaT		sulfatase modifying factor 2							105.0	91.0	96.0					7																	56145875		2203	4300	6503	SO:0001628	intergenic_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56145875C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56145875C>T						SUMF2_ENST00000395435.2_Silent_p.N159N|SUMF2_ENST00000342190.6_Silent_p.N243N|SUMF2_ENST00000413756.1_Silent_p.N224N|SUMF2_ENST00000275607.9_Silent_p.N136N|SUMF2_ENST00000437307.2_Silent_p.N155N|SUMF2_ENST00000395436.2_Silent_p.N228N	p.N243N	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	760	+	Breast(14;0.214)		224					B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	c.729C>T	CCDS5525.1																																																																																				0.567	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		38	55	0	0	0	1	0	38	55				
DEPDC1	55635	broad.mit.edu	37	1	68943596	68943596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68943596C>A	ENST00000456315.2	-	11	2286	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.Q440H|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	724					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAGCACTAATCTGCTTACAGT	0.348																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(2170-2172)caG>caT		DEP domain containing 1							134.0	141.0	139.0					1																	68943596		2203	4299	6502	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68943596C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2172G>T	1.37:g.68943596C>A	ENSP00000412292:p.Gln724His					DEPDC1_ENST00000370966.5_Missense_Mutation_p.Q440H	p.Q724H	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	11	2286	-			724					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.2172G>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531155	0.64972	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.86497	-2.13;-2.13	5.7	-0.414	0.12359	.	.	.	.	.	D	0.88492	0.6451	M	0.80183	2.485	0.27093	N	0.96279	D;D	0.71674	0.998;0.98	D;P	0.67900	0.954;0.735	T	0.82000	-0.0674	9	0.51188	T	0.08	-2.4263	11.1972	0.48719	0.0:0.4909:0.0:0.5091	.	724;440	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	H	724;440	ENSP00000412292:Q724H;ENSP00000360005:Q440H	ENSP00000360005:Q440H	Q	-	3	2	DEPDC1	68716184	0.991000	0.36638	0.941000	0.38009	0.978000	0.69477	0.312000	0.19397	-0.335000	0.08451	0.650000	0.86243	CAG		0.348	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		11	188	1	0	2.80697e-09	1	3.39963e-09	11	188				
NRDE2	55051	broad.mit.edu	37	14	90755214	90755214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90755214C>T	ENST00000354366.3	-	11	2737	c.2505G>A	c.(2503-2505)tcG>tcA	p.S835S	NRDE2_ENST00000357904.3_Silent_p.S604S	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	835																	TCACTTCTGGCGACAGCTCCA	0.542																																						ENST00000354366.3																			0											c.(2503-2505)tcG>tcA		NRDE-2, necessary for RNA interference, domain containing							45.0	43.0	44.0					14																	90755214		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90755214C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2505G>A	14.37:g.90755214C>T						NRDE2_ENST00000357904.3_Silent_p.S604S	p.S835S	NM_017970.3	NP_060440.2					11	2737	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.2505G>A	CCDS9890.1																																																																																				0.542	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		11	21	0	0	0	1	0	11	21				
MAN2C1	4123	broad.mit.edu	37	15	75652465	75652465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75652465G>T	ENST00000267978.5	-	14	1718	c.1672C>A	c.(1672-1674)Cta>Ata	p.L558I	MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000565683.1_Missense_Mutation_p.L558I|MAN2C1_ENST00000569482.1_Missense_Mutation_p.L558I|MAN2C1_ENST00000563622.1_Missense_Mutation_p.L459I	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	558					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGGTATAGGAACTGGGCA	0.622																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1672-1674)Cta>Ata		mannosidase, alpha, class 2C, member 1							107.0	118.0	114.0					15																	75652465		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75652465G>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1672C>A	15.37:g.75652465G>T	ENSP00000267978:p.Leu558Ile					MAN2C1_ENST00000569482.1_Missense_Mutation_p.L558I|MAN2C1_ENST00000563622.1_Missense_Mutation_p.L459I|MAN2C1_ENST00000267978.5_Missense_Mutation_p.L558I	p.L558I	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			14	1683	-			558					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.1672C>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859948	0.32884	.	.	ENSG00000140400	ENST00000267978	D	0.82344	-1.6	4.49	4.49	0.54785	Glycoside hydrolase, family 38, central domain (2);	0.527422	0.18279	N	0.146086	T	0.71710	0.3372	N	0.17594	0.5	0.27172	N	0.96089	B;B;B	0.26483	0.15;0.022;0.022	B;B;B	0.30401	0.115;0.016;0.016	T	0.64114	-0.6483	10	0.37606	T	0.19	-10.5709	11.4394	0.50088	0.0:0.0:0.8198:0.1802	.	340;558;558	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	I	558	ENSP00000267978:L558I	ENSP00000267978:L558I	L	-	1	2	MAN2C1	73439518	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	2.828000	0.48120	2.060000	0.61445	0.462000	0.41574	CTA		0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			12	151	1	0	4.3838e-07	1	5.12524e-07	12	151				
ITPKC	80271	broad.mit.edu	37	19	41223253	41223253	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223253T>C	ENST00000263370.2	+	1	246	c.213T>C	c.(211-213)ccT>ccC	p.P71P	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	71					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACAGCGAGCCTGAGAGGGCCG	0.756																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(211-213)ccT>ccC		inositol-trisphosphate 3-kinase C							7.0	9.0	9.0					19																	41223253		2079	4110	6189	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223253T>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.213T>C	19.37:g.41223253T>C							p.P71P	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	246	+			71					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.213T>C	CCDS12563.1																																																																																				0.756	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		5	9	0	0	0	1	0	5	9				
CHD9	80205	broad.mit.edu	37	16	53272404	53272404	+	Missense_Mutation	SNP	G	G	A	rs181647712		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53272404G>A	ENST00000398510.3	+	11	2870	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H	CHD9_ENST00000566029.1_Missense_Mutation_p.R928H|CHD9_ENST00000447540.1_Missense_Mutation_p.R928H|CHD9_ENST00000564845.1_Missense_Mutation_p.R928H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	928	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R928H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAGAATTTCGTACGTGGACT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16701	0.0		0.0	False		,,,				2504	0.0					ENST00000566029.1																			1	Substitution - Missense(1)	p.R928H(1)	endometrium(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2782-2784)cGt>cAt		chromodomain helicase DNA binding protein 9							224.0	209.0	214.0					16																	53272404		1866	4095	5961	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53272404G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2783G>A	16.37:g.53272404G>A	ENSP00000381522:p.Arg928His					CHD9_ENST00000447540.1_Missense_Mutation_p.R928H|CHD9_ENST00000398510.3_Missense_Mutation_p.R928H|CHD9_ENST00000564845.1_Missense_Mutation_p.R928H	p.R928H			Q3L8U1	CHD9_HUMAN			12	2992	+		all_cancers(37;0.0212)	928			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2783G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.7	4.941459	0.92526	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.93307	-3.2;-3.2	5.02	5.02	0.67125	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000028	D	0.93559	0.7944	N	0.20610	0.595	0.80722	D	1	P;D;B;B	0.69078	0.891;0.997;0.144;0.119	P;D;B;B	0.65773	0.767;0.938;0.046;0.027	D	0.94967	0.8113	10	0.72032	D	0.01	-10.4494	18.3513	0.90339	0.0:0.0:1.0:0.0	.	454;928;928;928	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	H	928;928;454	ENSP00000396345:R928H;ENSP00000381522:R928H	ENSP00000219084:R454H	R	+	2	0	CHD9	51829905	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.269000	0.72558	2.334000	0.79466	0.460000	0.39030	CGT		0.403	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		52	93	0	0	0	1	0	52	93				
RANBP2	5903	broad.mit.edu	37	2	109383804	109383804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109383804G>T	ENST00000283195.6	+	20	6935	c.6809G>T	c.(6808-6810)aGt>aTt	p.S2270I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2270					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAACTTCAGTTTTAAATCT	0.408																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(6808-6810)aGt>aTt		RAN binding protein 2							182.0	194.0	190.0					2																	109383804		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383804G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6809G>T	2.37:g.109383804G>T	ENSP00000283195:p.Ser2270Ile						p.S2270I	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6935	+			2270					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6809G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244873	0.59103	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29917	1.55	5.8	5.8	0.92144	.	.	.	.	.	T	0.47619	0.1455	L	0.34521	1.04	0.42114	D	0.991391	D	0.89917	1.0	D	0.71414	0.973	T	0.41502	-0.9505	9	0.62326	D	0.03	-27.7541	20.0591	0.97667	0.0:0.0:1.0:0.0	.	2270	P49792	RBP2_HUMAN	I	1294;2270	ENSP00000283195:S2270I	ENSP00000283195:S2270I	S	+	2	0	RANBP2	108750236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.956000	0.87863	2.753000	0.94483	0.455000	0.32223	AGT		0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		91	170	1	0	1.04318e-46	1	1.40957e-46	91	170				
HTR1A	3350	broad.mit.edu	37	5	63256975	63256975	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:63256975T>G	ENST00000323865.3	-	1	805	c.572A>C	c.(571-573)aAg>aCg	p.K191T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	191					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCATGATCCTTGCTAATGGT	0.572																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(571-573)aAg>aCg		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						129.0	144.0	139.0					5																	63256975		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256975T>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.572A>C	5.37:g.63256975T>G	ENSP00000316244:p.Lys191Thr					RP11-158J3.2_ENST00000502882.1_RNA	p.K191T	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	805	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	191					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.572A>C	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788795	0.70337	.	.	ENSG00000178394	ENST00000323865	T	0.39997	1.05	5.7	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.193223	0.45867	D	0.000328	T	0.20618	0.0496	N	0.04203	-0.255	0.45502	D	0.998468	B	0.23249	0.082	B	0.24701	0.055	T	0.09465	-1.0673	10	0.22109	T	0.4	.	10.4003	0.44225	0.0:0.076:0.0:0.924	.	191	P08908	5HT1A_HUMAN	T	191	ENSP00000316244:K191T	ENSP00000316244:K191T	K	-	2	0	HTR1A	63292731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.777000	0.47717	2.175000	0.68902	0.533000	0.62120	AAG		0.572	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		14	196	0	0	0	1	0	14	196				
MUC5B	727897	broad.mit.edu	37	11	1271537	1271537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271537C>T	ENST00000529681.1	+	31	13485	c.13427C>T	c.(13426-13428)gCt>gTt	p.A4476V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4479V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4476	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGGCAACTGCTGGCACCCCA	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13435-13437)gCt>gTt		mucin 5B, oligomeric mucus/gel-forming							50.0	66.0	61.0					11																	1271537		2084	4186	6270	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271537C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13427C>T	11.37:g.1271537C>T	ENSP00000436812:p.Ala4476Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4476V	p.A4479V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13494	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4476			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13436C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	6.453	0.451773	0.12283	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.18657	2.2;2.39	1.78	-3.34	0.04943	.	.	.	.	.	T	0.16257	0.0391	L	0.54323	1.7	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.35549	-0.9784	9	0.87932	D	0	.	3.3227	0.07056	0.0:0.3903:0.2158:0.3939	.	4949;4479	A7Y9J9;E9PBJ0	.;.	V	4476;4479;4420;4326;255	ENSP00000436812:A4476V;ENSP00000415793:A4479V	ENSP00000343037:A4420V	A	+	2	0	MUC5B	1228113	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-3.368000	0.00495	-0.780000	0.04553	0.121000	0.15741	GCT		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		36	55	0	0	0	1	0	36	55				
ACACB	32	broad.mit.edu	37	12	109673127	109673127	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109673127C>A	ENST00000338432.7	+	32	4476	c.4357C>A	c.(4357-4359)Ctt>Att	p.L1453I	ACACB_ENST00000377854.5_Missense_Mutation_p.L1383I|ACACB_ENST00000543201.1_Missense_Mutation_p.L119I|ACACB_ENST00000377848.3_Missense_Mutation_p.L1453I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1453					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAAAAATATCCTTGTGGATTA	0.403																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4357-4359)Ctt>Att		acetyl-CoA carboxylase beta	Biotin(DB00121)						102.0	101.0	101.0					12																	109673127		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109673127C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4357C>A	12.37:g.109673127C>A	ENSP00000341044:p.Leu1453Ile					ACACB_ENST00000543201.1_Missense_Mutation_p.L119I|ACACB_ENST00000377848.3_Missense_Mutation_p.L1453I|ACACB_ENST00000377854.5_Missense_Mutation_p.L1383I	p.L1453I			O00763	ACACB_HUMAN			32	4476	+			1453					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4357C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236367	0.79800	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.09	5.09	0.68999	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.84511	2.7	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.85858	0.1408	10	0.59425	D	0.04	.	12.2735	0.54721	0.0:0.9217:0.0:0.0783	.	1453	O00763	ACACB_HUMAN	I	1453;1453;1383;684;119	ENSP00000341044:L1453I;ENSP00000367079:L1453I;ENSP00000367085:L1383I;ENSP00000444075:L119I	ENSP00000341044:L1453I	L	+	1	0	ACACB	108157510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.999000	0.57031	2.546000	0.85860	0.609000	0.83330	CTT		0.403	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	78	1	0	0.0381472	1	0.0390147	6	78				
ATRX	546	broad.mit.edu	37	X	76875919	76875919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76875919C>T	ENST00000373344.5	-	20	5430	c.5216G>A	c.(5215-5217)cGa>cAa	p.R1739Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R1701Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTCCTTGATCGTATAGAATT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5215-5217)cGa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						79.0	66.0	71.0					X																	76875919		2202	4293	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875919C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5216G>A	X.37:g.76875919C>T	ENSP00000362441:p.Arg1739Gln					ATRX_ENST00000395603.3_Missense_Mutation_p.R1701Q|ATRX_ENST00000480283.1_5'UTR	p.R1739Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5430	-			1739			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5216G>A	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.504724|2.504724	0.44558|0.44558	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.93133	.|-3.17;-3.17	4.57|4.57	3.68|3.68	0.42216|0.42216	.|DEAD-like helicase (2);SNF2-related (1);	.|0.171135	.|0.37623	.|N	.|0.002005	D|D	0.91459|0.91459	0.7304|0.7304	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|P;D	.|0.56521	.|0.846;0.976	.|B;P	.|0.49829	.|0.131;0.623	D|D	0.89602|0.89602	0.3835|0.3835	5|10	.|0.66056	.|D	.|0.02	-1.805|-1.805	7.9196|7.9196	0.29837|0.29837	0.0:0.7187:0.0:0.2813|0.0:0.7187:0.0:0.2813	.|.	.|1701;1739	.|P46100-4;P46100	.|.;ATRX_HUMAN	N|Q	28|1739;1701	.|ENSP00000362441:R1739Q;ENSP00000378967:R1701Q	.|ENSP00000362441:R1739Q	D|R	-|-	1|2	0|0	ATRX|ATRX	76762575|76762575	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	1.357000|1.357000	0.34090|0.34090	0.688000|0.688000	0.31529|0.31529	0.600000|0.600000	0.82982|0.82982	GAT|CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		5	51	0	0	0	1	0	5	51				
ZNF652	22834	broad.mit.edu	37	17	47394333	47394333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47394333C>A	ENST00000362063.2	-	2	1073	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF652_ENST00000430262.2_Missense_Mutation_p.R252M	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTTAAATACCCTGGGGCACTT	0.488																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(754-756)aGg>aTg		zinc finger protein 652							169.0	143.0	152.0					17																	47394333		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394333C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.755G>T	17.37:g.47394333C>A	ENSP00000354686:p.Arg252Met					ZNF652_ENST00000430262.2_Missense_Mutation_p.R252M	p.R252M	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1073	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		252					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.755G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076414	0.76415	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.55052	0.54;0.54	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70245	-0.4925	10	0.87932	D	0	-17.4771	19.1921	0.93671	0.0:1.0:0.0:0.0	.	252	Q9Y2D9	ZN652_HUMAN	M	252	ENSP00000354686:R252M;ENSP00000416305:R252M	ENSP00000354686:R252M	R	-	2	0	ZNF652	44749332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	AGG		0.488	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		5	70	1	0	0.014758	1	0.0152625	5	70				
SSPO	23145	broad.mit.edu	37	7	149479958	149479958	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149479958G>T	ENST00000378016.2	+	0	1924							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAATGGGCAGGATGTGGGCTT	0.652																																						ENST00000378016.2																			0													SCO-spondin							45.0	52.0	50.0					7																	149479958		2131	4218	6349			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149479958G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149479958G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1924	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	27	1	0	8.12818e-05	1	8.99451e-05	6	27				
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6990511G>T	ENST00000381309.3	+	12	2338	c.1773G>T	c.(1771-1773)gcG>gcT	p.A591A	KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000428870.2_Silent_p.A278A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1771-1773)gcG>gcT		lysine (K)-specific demethylase 4C							53.0	44.0	47.0					9																	6990511		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6990511G>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1773G>T	9.37:g.6990511G>T						KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Silent_p.A278A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000536108.1_Silent_p.A410A	p.A591A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			12	2338	+			591					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.1773G>T	CCDS6471.1																																																																																				0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		16	15	1	0	1.15088e-07	1	1.35723e-07	16	15				
ZSCAN16	80345	broad.mit.edu	37	6	28093347	28093347	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28093347A>G	ENST00000340487.4	+	2	275	c.126A>G	c.(124-126)caA>caG	p.Q42Q	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCTATAGACAACACTTCAGGA	0.522																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(124-126)caA>caG		zinc finger and SCAN domain containing 16							218.0	222.0	221.0					6																	28093347		2203	4300	6503	SO:0001819	synonymous_variant	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093347A>G	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.126A>G	6.37:g.28093347A>G						RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.Q42Q	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			2	275	+			42			SCAN box.		Q9H6K2	Silent	SNP	ENST00000340487.4	37	c.126A>G	CCDS4644.1																																																																																				0.522	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		15	255	0	0	0	1	0	15	255				
MACF1	23499	broad.mit.edu	37	1	39763312	39763312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763312G>A	ENST00000372915.3	+	20	2478	c.2391G>A	c.(2389-2391)gaG>gaA	p.E797E	MACF1_ENST00000567887.1_Silent_p.E829E|MACF1_ENST00000361689.2_Silent_p.E797E|MACF1_ENST00000317713.7_Silent_p.E797E|MACF1_ENST00000539005.1_Silent_p.E797E|MACF1_ENST00000564288.1_Silent_p.E792E|MACF1_ENST00000545844.1_Silent_p.E797E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	797					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCACGAGAGCTGGAGTCAT	0.418																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2374-2376)gaG>gaA		microtubule-actin crosslinking factor 1							140.0	136.0	137.0					1																	39763312		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39763312G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2391G>A	1.37:g.39763312G>A						MACF1_ENST00000545844.1_Silent_p.E797E|MACF1_ENST00000567887.1_Silent_p.E829E|MACF1_ENST00000372915.3_Silent_p.E797E|MACF1_ENST00000317713.7_Silent_p.E797E|MACF1_ENST00000361689.2_Silent_p.E797E|MACF1_ENST00000539005.1_Silent_p.E797E	p.E792E			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		21	3153	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	797					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.2376G>A																																																																																					0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		36	75	0	0	0	1	0	36	75				
KCNC1	3746	broad.mit.edu	37	11	17793591	17793591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17793591G>A	ENST00000379472.3	+	2	980	c.950G>A	c.(949-951)cGc>cAc	p.R317H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R317H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	317					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R317H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CGCTTCGTGCGCATCTTGCGC	0.647																																						ENST00000379472.3																			2	Substitution - Missense(2)	p.R317H(2)	endometrium(2)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(949-951)cGc>cAc		potassium voltage-gated channel, Shaw-related subfamily, member 1							53.0	50.0	51.0					11																	17793591		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793591G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.950G>A	11.37:g.17793591G>A	ENSP00000368785:p.Arg317His					KCNC1_ENST00000265969.6_Missense_Mutation_p.R317H	p.R317H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	980	+			317					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.950G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220347	0.79464	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.99591	-6.24;-6.24	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97704	1.0186	10	0.87932	D	0	.	18.0457	0.89331	0.0:0.0:1.0:0.0	.	317;317	Q3KNS8;P48547	.;KCNC1_HUMAN	H	317	ENSP00000265969:R317H;ENSP00000368785:R317H	ENSP00000265969:R317H	R	+	2	0	KCNC1	17750167	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	9.869000	0.99810	2.254000	0.74563	0.561000	0.74099	CGC		0.647	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		7	8	0	0	0	1	0	7	8				
MKRN1	23608	broad.mit.edu	37	7	140159722	140159722	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140159722T>C	ENST00000255977.2	-	3	553	c.329A>G	c.(328-330)aAa>aGa	p.K110R	MKRN1_ENST00000443720.2_Missense_Mutation_p.K110R|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.K46R|MKRN1_ENST00000481705.1_5'Flank	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	110					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TTTCAATGGTTTGCTATGTTC	0.448																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(328-330)aAa>aGa		makorin ring finger protein 1							109.0	114.0	112.0					7																	140159722		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140159722T>C	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.329A>G	7.37:g.140159722T>C	ENSP00000255977:p.Lys110Arg					MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.K110R|MKRN1_ENST00000474576.1_Missense_Mutation_p.K46R	p.K110R	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			3	553	-	Melanoma(164;0.00956)		110					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.329A>G	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131423	0.77549	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513;ENST00000494939;ENST00000473444	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.18	5.18	0.71444	Zinc finger, CCCH-type (2);	0.142334	0.64402	D	0.000006	T	0.50667	0.1629	L	0.42744	1.35	0.80722	D	1	D	0.55800	0.973	P	0.58820	0.846	T	0.39522	-0.9610	10	0.22706	T	0.39	.	15.0508	0.71867	0.0:0.0:0.0:1.0	.	110	Q9UHC7	MKRN1_HUMAN	R	110;46;46;110;46;46;46;61	ENSP00000255977:K110R;ENSP00000417863:K46R;ENSP00000416369:K110R;ENSP00000418864:K46R;ENSP00000418588:K46R;ENSP00000419843:K46R;ENSP00000418620:K61R	ENSP00000255977:K110R	K	-	2	0	MKRN1	139806191	1.000000	0.71417	0.996000	0.52242	0.668000	0.39293	6.892000	0.75644	1.964000	0.57103	0.374000	0.22700	AAA		0.448	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		3	89	0	0	0	1	0	3	89				
TRPV6	55503	broad.mit.edu	37	7	142574279	142574279	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142574279A>T	ENST00000359396.3	-	6	889	c.644T>A	c.(643-645)aTg>aAg	p.M215K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	215					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGTTGTACATCTGGCAGGC	0.562																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(643-645)aTg>aAg		transient receptor potential cation channel, subfamily V, member 6							250.0	217.0	228.0					7																	142574279		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142574279A>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.644T>A	7.37:g.142574279A>T	ENSP00000352358:p.Met215Lys					RP11-114L10.2_ENST00000438839.1_RNA	p.M215K	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			6	889	-	Melanoma(164;0.059)		215					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.644T>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262361	0.80358	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.53857	0.6	4.87	4.87	0.63330	Ankyrin repeat-containing domain (3);	0.172966	0.64402	D	0.000007	T	0.68760	0.3036	M	0.64080	1.96	0.52099	D	0.99994	D	0.89917	1.0	D	0.83275	0.996	T	0.71283	-0.4639	10	0.56958	D	0.05	-34.5428	13.688	0.62529	1.0:0.0:0.0:0.0	.	215	Q9H1D0	TRPV6_HUMAN	K	215;47	ENSP00000352358:M215K	ENSP00000310825:M47K	M	-	2	0	TRPV6	142284401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.060000	0.64312	1.846000	0.53633	0.533000	0.62120	ATG		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		5	96	0	0	0	1	0	5	96				
ASTL	431705	broad.mit.edu	37	2	96798360	96798360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96798360G>A	ENST00000342380.2	-	6	555	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCAGCACATGCATGAGCTCA	0.642																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(556-558)Cat>Tat		astacin-like metallo-endopeptidase (M12 family)							88.0	89.0	89.0					2																	96798360		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96798360G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.556C>T	2.37:g.96798360G>A	ENSP00000343674:p.His186Tyr						p.H186Y	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			6	555	-			186						Missense_Mutation	SNP	ENST00000342380.2	37	c.556C>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394238	0.83011	.	.	ENSG00000188886	ENST00000342380	D	0.97831	-4.56	4.79	4.79	0.61399	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.48286	D	0.000189	D	0.99296	0.9754	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98450	1.0591	10	0.87932	D	0	-14.5624	15.3915	0.74747	0.0:0.0:1.0:0.0	.	186	Q6HA08	ASTL_HUMAN	Y	186	ENSP00000343674:H186Y	ENSP00000343674:H186Y	H	-	1	0	ASTL	96162087	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.866000	0.92307	2.211000	0.71520	0.551000	0.68910	CAT		0.642	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			13	99	0	0	0	1	0	13	99				
UNC79	57578	broad.mit.edu	37	14	94088531	94088531	+	Missense_Mutation	SNP	C	C	T	rs201026597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94088531C>T	ENST00000393151.2	+	30	4952	c.4952C>T	c.(4951-4953)aCg>aTg	p.T1651M	UNC79_ENST00000555664.1_Missense_Mutation_p.T1651M|UNC79_ENST00000553484.1_Missense_Mutation_p.T1673M|UNC79_ENST00000256339.4_Missense_Mutation_p.T1474M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1651					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAAGAGGAGACGATGAACCAA	0.552																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5017-5019)aCg>aTg		unc-79 homolog (C. elegans)		C	MET/THR	0,4406		0,0,2203	96.0	102.0	100.0		4421	-3.8	0.0	14		100	2,8598	2.2+/-6.3	0,2,4298	yes	missense	UNC79	NM_020818.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1474/2459	94088531	2,13004	2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088531C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4952C>T	14.37:g.94088531C>T	ENSP00000376858:p.Thr1651Met					UNC79_ENST00000393151.2_Missense_Mutation_p.T1651M|UNC79_ENST00000555664.1_Missense_Mutation_p.T1651M|UNC79_ENST00000256339.4_Missense_Mutation_p.T1474M	p.T1673M			Q9P2D8	UNC79_HUMAN			31	5172	+			1651					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5018C>T		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.947179	0.00475	0.0	2.33E-4	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.62	-3.84	0.04256	.	1.767510	0.02260	N	0.067504	T	0.10766	0.0263	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24154	-1.0168	10	0.18710	T	0.47	0.0181	6.9162	0.24361	0.1806:0.3559:0.0:0.4635	.	1673	C9JQL1	.	M	1474;1651;1673;1651;1673	ENSP00000256339:T1474M;ENSP00000450868:T1651M;ENSP00000451360:T1673M;ENSP00000376858:T1651M	ENSP00000256339:T1474M	T	+	2	0	KIAA1409	93158284	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.029000	0.13666	-1.185000	0.02716	-1.579000	0.00862	ACG		0.552	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		24	38	0	0	0	1	0	24	38				
JAG1	182	broad.mit.edu	37	20	10628720	10628720	+	Silent	SNP	G	G	A	rs200648453		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10628720G>A	ENST00000254958.5	-	13	2123	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	JAG1_ENST00000423891.2_Silent_p.N377N|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	536	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTGGGCACCGTTCTGGCAGG	0.517									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(1606-1608)aaC>aaT		jagged 1		G		1,4405	2.1+/-5.4	0,1,2202	139.0	121.0	127.0		1608	-6.5	0.9	20		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAG1	NM_000214.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		536/1219	10628720	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10628720G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1608C>T	20.37:g.10628720G>A						JAG1_ENST00000423891.2_Silent_p.N377N	p.N536N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			13	2123	-			536			EGF-like 9.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.1608C>T	CCDS13112.1																																																																																				0.517	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		14	32	0	0	0	1	0	14	32				
TBC1D2	55357	broad.mit.edu	37	9	100961719	100961719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961719G>A	ENST00000375066.5	-	13	2789	c.2698C>T	c.(2698-2700)Cgc>Tgc	p.R900C	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R693C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R451C|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	911					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ACAGCTCTGCGCCGGGATGCC	0.692																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2698-2700)Cgc>Tgc		TBC1 domain family, member 2							69.0	72.0	71.0					9																	100961719		2203	4299	6502	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961719G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2698C>T	9.37:g.100961719G>A	ENSP00000364207:p.Arg900Cys					TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R693C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R451C	p.R900C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2789	-		Myeloproliferative disorder(762;0.0255)	911					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2698C>T	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117174	0.37339	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.09073	3.02;3.44;3.02	5.51	3.66	0.41972	.	1.124670	0.06448	N	0.727258	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	P;P	0.48407	0.855;0.91	B;B	0.41723	0.2;0.365	T	0.53528	-0.8426	10	0.72032	D	0.01	.	15.5303	0.75956	0.0:0.4548:0.5452:0.0	.	911;900	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	C	900;693;451	ENSP00000364207:R900C;ENSP00000341567:R693C;ENSP00000364203:R451C	ENSP00000341567:R693C	R	-	1	0	TBC1D2	100001540	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.816000	0.27267	0.679000	0.31345	-0.416000	0.06073	CGC		0.692	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		18	118	0	0	0	1	0	18	118				
C11orf70	85016	broad.mit.edu	37	11	101937271	101937271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937271G>A	ENST00000434758.2	+	4	352	c.324G>A	c.(322-324)atG>atA	p.M108I	C11orf70_ENST00000534360.1_Intron|C11orf70_ENST00000526781.1_Missense_Mutation_p.M108I	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	108								p.M70I(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGCTTTCAATGTCATTTTTTC	0.284																																						ENST00000434758.2																			1	Substitution - Missense(1)	p.M70I(1)	breast(1)	breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(322-324)atG>atA		chromosome 11 open reading frame 70							104.0	98.0	100.0					11																	101937271		2200	4294	6494	SO:0001583	missense	85016							g.chr11:101937271G>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.324G>A	11.37:g.101937271G>A	ENSP00000414390:p.Met108Ile					C11orf70_ENST00000526781.1_Missense_Mutation_p.M108I|C11orf70_ENST00000534360.1_Intron	p.M108I	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	4	352	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	108					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.324G>A	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377170	0.82682	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.53	5.53	0.82687	.	0.073495	0.85682	D	0.000000	T	0.76414	0.3984	M	0.83483	2.645	0.80722	D	1	D	0.58620	0.983	P	0.52066	0.689	T	0.79931	-0.1595	9	0.66056	D	0.02	-19.3906	19.8234	0.96607	0.0:0.0:1.0:0.0	.	108	Q9BRQ4	CK070_HUMAN	I	108;108;70	.	ENSP00000392150:M70I	M	+	3	0	C11orf70	101442481	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.074000	0.76791	2.766000	0.95052	0.557000	0.71058	ATG		0.284	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		4	56	0	0	0	1	0	4	56				
BCKDK	10295	broad.mit.edu	37	16	31123215	31123215	+	Missense_Mutation	SNP	G	G	A	rs201445468		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31123215G>A	ENST00000394951.1	+	12	1584	c.961G>A	c.(961-963)Gct>Act	p.A321T	BCKDK_ENST00000287507.3_Missense_Mutation_p.A291T|BCKDK_ENST00000219794.6_Missense_Mutation_p.A321T|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Missense_Mutation_p.A321T			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	321	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TGGAGGAATCGCTCACAAAGA	0.567																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(961-963)Gct>Act		branched chain ketoacid dehydrogenase kinase							120.0	112.0	115.0					16																	31123215		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31123215G>A	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.961G>A	16.37:g.31123215G>A	ENSP00000378405:p.Ala321Thr					BCKDK_ENST00000394950.3_Missense_Mutation_p.A321T|BCKDK_ENST00000287507.3_Missense_Mutation_p.A291T|BCKDK_ENST00000219794.6_Missense_Mutation_p.A321T	p.A321T			O14874	BCKD_HUMAN			12	1584	+			321			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.961G>A	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841548	0.51057	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.77358	0.6;0.6;0.6;-1.09	5.66	3.6	0.41247	Signal transduction histidine kinase-related protein, C-terminal (1);Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.101586	0.64402	N	0.000002	T	0.65954	0.2741	L	0.38531	1.155	0.42872	D	0.994141	P;P	0.49447	0.913;0.924	B;B	0.40636	0.113;0.335	T	0.68300	-0.5445	10	0.59425	D	0.04	-0.6025	8.3068	0.32047	0.0862:0.3038:0.6099:0.0	.	291;321	Q96G95;O14874	.;BCKD_HUMAN	T	321;321;321;291	ENSP00000378405:A321T;ENSP00000219794:A321T;ENSP00000378404:A321T;ENSP00000287507:A291T	ENSP00000219794:A321T	A	+	1	0	BCKDK	31030716	1.000000	0.71417	0.928000	0.36995	0.927000	0.56198	4.358000	0.59442	1.407000	0.46875	0.591000	0.81541	GCT		0.567	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		30	44	0	0	0	1	0	30	44				
TRGC1	6966	broad.mit.edu	37	7	38305111	38305111	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38305111G>A	ENST00000443402.2	-	0	168					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											CCCCTCCTGGGATCCCAGAAT	0.423																																						ENST00000443402.2																			0																				164.0	165.0	165.0					7																	38305111		1812	4074	5886			0							g.chr7:38305111G>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305111G>A								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	168	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.423	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		151	130	0	0	0	1	0	151	130				
RXFP3	51289	broad.mit.edu	37	5	33937928	33937928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937928G>T	ENST00000330120.3	+	1	1438	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	361					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTTCAGCCAGGAGTATTTCC	0.602																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1081-1083)caG>caT		relaxin/insulin-like family peptide receptor 3							102.0	102.0	102.0					5																	33937928		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937928G>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1083G>T	5.37:g.33937928G>T	ENSP00000328708:p.Gln361His						p.Q361H	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1438	+			361					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1083G>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430309	0.25726	.	.	ENSG00000182631	ENST00000330120	T	0.70399	-0.48	5.79	-3.12	0.05282	GPCR, rhodopsin-like superfamily (1);	0.671580	0.14593	N	0.310135	T	0.44477	0.1295	N	0.20766	0.605	0.30872	N	0.732316	B	0.09022	0.002	B	0.15052	0.012	T	0.19516	-1.0303	10	0.23302	T	0.38	-2.6993	2.7466	0.05268	0.1911:0.2001:0.4843:0.1245	.	361	Q9NSD7	RL3R1_HUMAN	H	361	ENSP00000328708:Q361H	ENSP00000328708:Q361H	Q	+	3	2	RXFP3	33973685	0.000000	0.05858	0.867000	0.34043	0.998000	0.95712	-1.928000	0.01560	-0.594000	0.05836	0.655000	0.94253	CAG		0.602	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		6	54	1	0	0.00116845	1	0.00124821	6	54				
KCTD21	283219	broad.mit.edu	37	11	77885272	77885272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885272G>A	ENST00000340067.3	-	2	607	c.329C>T	c.(328-330)gCc>gTc	p.A110V	KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	110					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTTGAGCATGGCATTCTTCTC	0.602																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(328-330)gCc>gTc		potassium channel tetramerization domain containing 21							135.0	105.0	115.0					11																	77885272		2200	4292	6492	SO:0001583	missense	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885272G>A	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.329C>T	11.37:g.77885272G>A	ENSP00000339340:p.Ala110Val					KCTD21-AS1_ENST00000600795.1_RNA	p.A110V	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	607	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		110					B4DTR0	Missense_Mutation	SNP	ENST00000340067.3	37	c.329C>T	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997704	0.54147	.	.	ENSG00000188997	ENST00000340067;ENST00000526208;ENST00000525447;ENST00000529350	T;T;T;T	0.55760	0.5;0.57;0.61;0.69	6.03	6.03	0.97812	BTB/POZ fold (2);	0.000000	0.56097	D	0.000028	T	0.43590	0.1254	N	0.24115	0.695	0.36956	D	0.893087	B	0.33103	0.397	B	0.35510	0.204	T	0.41980	-0.9478	10	0.26408	T	0.33	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	110	Q4G0X4	KCD21_HUMAN	V	110	ENSP00000339340:A110V;ENSP00000431789:A110V;ENSP00000434174:A110V;ENSP00000431130:A110V	ENSP00000339340:A110V	A	-	2	0	KCTD21	77562920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.230000	0.72301	2.861000	0.98227	0.655000	0.94253	GCC		0.602	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		16	25	0	0	0	1	0	16	25				
ATP13A3	79572	broad.mit.edu	37	3	194162084	194162084	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194162084A>T	ENST00000439040.1	-	16	2457	c.1666T>A	c.(1666-1668)Tct>Act	p.S556T	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S556T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	556						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GGATCACCAGAGAGCACTCCT	0.323																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1666-1668)Tct>Act		ATPase type 13A3							103.0	95.0	97.0					3																	194162084		1820	4089	5909	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194162084A>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1666T>A	3.37:g.194162084A>T	ENSP00000416508:p.Ser556Thr					ATP13A3_ENST00000256031.4_Missense_Mutation_p.S556T	p.S556T			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	16	2457	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	556					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1666T>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420312	0.83559	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.69685	-0.42;-0.42	5.23	5.23	0.72850	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.64227	0.2579	L	0.31157	0.91	0.58432	D	0.999991	B	0.33549	0.417	P	0.45167	0.472	T	0.61874	-0.6973	10	0.28530	T	0.3	0.8763	15.1115	0.72362	1.0:0.0:0.0:0.0	.	556	Q9H7F0	AT133_HUMAN	T	556;556;294	ENSP00000416508:S556T;ENSP00000256031:S556T	ENSP00000256031:S556T	S	-	1	0	ATP13A3	195643373	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.992000	0.76238	1.976000	0.57569	0.482000	0.46254	TCT		0.323	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		8	67	0	0	0	1	0	8	67				
ARRDC4	91947	broad.mit.edu	37	15	98514380	98514380	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:98514380A>G	ENST00000268042.6	+	8	1384	c.1220A>G	c.(1219-1221)gAc>gGc	p.D407G	ARRDC4_ENST00000538249.1_Missense_Mutation_p.D320G	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CATCCTAGCGACGTAGAAGAG	0.383																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(1219-1221)gAc>gGc		arrestin domain containing 4							182.0	184.0	183.0					15																	98514380		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98514380A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1220A>G	15.37:g.98514380A>G	ENSP00000268042:p.Asp407Gly					ARRDC4_ENST00000538249.1_Missense_Mutation_p.D320G	p.D407G	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		8	1384	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		407					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.1220A>G	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.400406	0.25291	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.10005	2.92;3.09	5.44	4.27	0.50696	.	0.250123	0.34700	N	0.003746	T	0.09335	0.0230	L	0.39898	1.24	0.09310	N	1	B;B	0.18741	0.018;0.03	B;B	0.21917	0.016;0.037	T	0.25537	-1.0129	10	0.48119	T	0.1	.	6.2928	0.21069	0.7555:0.1554:0.0891:0.0	.	407;320	Q8NCT1;F5H824	ARRD4_HUMAN;.	G	320;407	ENSP00000443774:D320G;ENSP00000268042:D407G	ENSP00000268042:D407G	D	+	2	0	ARRDC4	96315384	0.258000	0.24033	0.035000	0.18076	0.817000	0.46193	2.751000	0.47508	0.846000	0.35142	0.482000	0.46254	GAC		0.383	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		45	96	0	0	0	1	0	45	96				
ARHGEF1	9138	broad.mit.edu	37	19	42396804	42396804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396804G>A	ENST00000354532.3	+	7	646	c.498G>A	c.(496-498)acG>acA	p.T166T	ARHGEF1_ENST00000347545.4_Silent_p.T133T|ARHGEF1_ENST00000378152.4_Silent_p.T148T|ARHGEF1_ENST00000337665.4_Silent_p.T181T|ARHGEF1_ENST00000599846.1_Silent_p.T166T	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	166	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGGCATGACGCCCTGGGAGC	0.697																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(496-498)acG>acA		Rho guanine nucleotide exchange factor (GEF) 1							30.0	33.0	32.0					19																	42396804		2203	4300	6503	SO:0001819	synonymous_variant	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396804G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.498G>A	19.37:g.42396804G>A						ARHGEF1_ENST00000337665.4_Silent_p.T181T|ARHGEF1_ENST00000347545.4_Silent_p.T133T|ARHGEF1_ENST00000354532.3_Silent_p.T166T|ARHGEF1_ENST00000378152.4_Silent_p.T148T	p.T166T			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	7	623	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	166			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.498G>A	CCDS12591.1																																																																																				0.697	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		13	16	0	0	0	1	0	13	16				
SYNE1	23345	broad.mit.edu	37	6	152557334	152557334	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152557334T>C	ENST00000367255.5	-	110	20905	c.20304A>G	c.(20302-20304)caA>caG	p.Q6768Q	SYNE1_ENST00000356820.4_Silent_p.Q1292Q|SYNE1_ENST00000265368.4_Silent_p.Q6768Q|SYNE1_ENST00000341594.5_Silent_p.Q6380Q|SYNE1_ENST00000448038.1_Silent_p.Q6697Q|SYNE1_ENST00000423061.1_Silent_p.Q6697Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6768					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGATTTAGTTGGCTTTCTA	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20302-20304)caA>caG		spectrin repeat containing, nuclear envelope 1							165.0	160.0	161.0					6																	152557334		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152557334T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20304A>G	6.37:g.152557334T>C		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.Q6380Q|SYNE1_ENST00000265368.4_Silent_p.Q6768Q|SYNE1_ENST00000448038.1_Silent_p.Q6697Q|SYNE1_ENST00000356820.4_Silent_p.Q1292Q|SYNE1_ENST00000423061.1_Silent_p.Q6697Q	p.Q6768Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	110	20905	-		Ovarian(120;0.0955)	6768					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.20304A>G	CCDS5236.2																																																																																				0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	121	0	0	0	1	0	8	121				
CBFA2T3	863	broad.mit.edu	37	16	88967912	88967912	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88967912G>A	ENST00000268679.4	-	2	700	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Splice_Site_p.L102L|CBFA2T3_ENST00000360302.2_Splice_Site_p.L41L|CBFA2T3_ENST00000327483.5_Splice_Site_p.L41L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	102	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCTACTTACGTGTGTGTGGC	0.682			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.e2+1		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							16.0	21.0	19.0					16																	88967912		2178	4281	6459	SO:0001630	splice_region_variant	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88967912G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.304+1C>T	16.37:g.88967912G>A						CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Splice_Site_p.L102_splice|CBFA2T3_ENST00000360302.2_Splice_Site_p.L41_splice|CBFA2T3_ENST00000327483.5_Splice_Site_p.L41_splice	p.H102_splice	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	2	700	-			102			Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Required for nucleolar targeting (in isoform 1).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Splice_Site	SNP	ENST00000268679.4	37	c.304_splice	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238641	0.22711	.	.	ENSG00000129993	ENST00000268679	T	0.42900	0.96	3.95	-0.366	0.12545	.	2.373320	0.02101	N	0.053960	T	0.22704	0.0548	N	0.22421	0.69	0.80722	D	1	P	0.51351	0.944	B	0.28916	0.096	T	0.34625	-0.9821	9	.	.	.	-11.7589	7.039	0.25008	0.0:0.1092:0.2245:0.6664	.	102	O75081	MTG16_HUMAN	Y	102	ENSP00000268679:H102Y	.	H	-	1	0	CBFA2T3	87495413	0.360000	0.24964	0.998000	0.56505	0.749000	0.42624	0.385000	0.20685	0.168000	0.19655	0.491000	0.48974	CAT		0.682	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187	Missense_Mutation	17	17	0	0	0	1	0	17	17				
MED13	9969	broad.mit.edu	37	17	60060019	60060019	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60060019C>T	ENST00000397786.2	-	16	3421	c.3345G>A	c.(3343-3345)acG>acA	p.T1115T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1115					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGCTTCCTGCGTTGGATCTG	0.378																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3343-3345)acG>acA		mediator complex subunit 13							145.0	129.0	134.0					17																	60060019		1926	4147	6073	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60060019C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3345G>A	17.37:g.60060019C>T							p.T1115T	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			16	3421	-			1115					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.3345G>A	CCDS42366.1																																																																																				0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		10	129	0	0	0	1	0	10	129				
MDM2	4193	broad.mit.edu	37	12	69210696	69210696	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69210696C>T	ENST00000350057.5	+	2	186	c.186C>T	c.(184-186)ggC>ggT	p.G62G	MDM2_ENST00000540827.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000462284.1_Silent_p.G93G|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000258149.5_Silent_p.G87G|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258148.7_Silent_p.G93G|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000517852.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	87	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATTTGTTTGGCGTGCCAAGCT	0.363			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(277-279)ggC>ggT		MDM2 oncogene, E3 ubiquitin protein ligase							98.0	92.0	94.0					12																	69210696		1842	4087	5929	SO:0001819	synonymous_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69210696C>T		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.186C>T	12.37:g.69210696C>T						MDM2_ENST00000393413.3_Intron|MDM2_ENST00000350057.5_Silent_p.G62G|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000258148.7_Silent_p.G93G|MDM2_ENST00000258149.5_Silent_p.G87G|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000544561.1_Intron	p.G93G	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	581	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		87			Necessary for interaction with USP2.|SWIB.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Silent	SNP	ENST00000350057.5	37	c.279C>T																																																																																					0.363	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		16	23	0	0	0	1	0	16	23				
JMJD1C	221037	broad.mit.edu	37	10	64967463	64967463	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64967463C>T	ENST00000399262.2	-	10	4184	c.3966G>A	c.(3964-3966)caG>caA	p.Q1322Q	JMJD1C_ENST00000402544.1_Silent_p.Q1103Q|JMJD1C_ENST00000399251.1_Silent_p.Q1103Q|JMJD1C_ENST00000542921.1_Silent_p.Q1140Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1322					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAGAAGCTAACTGCATTGCTG	0.438																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3964-3966)caG>caA		jumonji domain containing 1C							125.0	115.0	118.0					10																	64967463		1910	4115	6025	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967463C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3966G>A	10.37:g.64967463C>T						JMJD1C_ENST00000402544.1_Silent_p.Q1103Q|JMJD1C_ENST00000542921.1_Silent_p.Q1140Q|JMJD1C_ENST00000399251.1_Silent_p.Q1103Q	p.Q1322Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4184	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1322					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.3966G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660151	0.03454	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.94	1.08	0.20341	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	0.1112	4.0233	0.09675	0.3575:0.4321:0.1156:0.0949	.	.	.	.	N	8	.	.	S	-	2	0	JMJD1C	64637469	0.953000	0.32496	0.759000	0.31340	0.967000	0.64934	-0.004000	0.12878	-0.070000	0.12908	0.591000	0.81541	AGT		0.438	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		7	124	0	0	0	1	0	7	124				
POLR3A	11128	broad.mit.edu	37	10	79777428	79777428	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79777428A>G	ENST00000372371.3	-	10	1473	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	446					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTCACCATACTTGAGCTCT	0.443																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1336-1338)Tat>Cat		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							180.0	160.0	166.0					10																	79777428		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79777428A>G	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1336T>C	10.37:g.79777428A>G	ENSP00000361446:p.Tyr446His					POLR3A_ENST00000484760.1_5'UTR	p.Y446H	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		10	1473	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		446					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1336T>C	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437366	0.43224	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68181	-0.31	5.9	5.9	0.94986	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.430845	0.28630	N	0.014672	T	0.68632	0.3022	M	0.77406	2.37	0.33614	D	0.603903	B	0.10296	0.003	B	0.11329	0.006	T	0.71833	-0.4473	9	.	.	.	-6.2568	16.3291	0.83001	1.0:0.0:0.0:0.0	.	446	O14802	RPC1_HUMAN	H	446	ENSP00000361446:Y446H	.	Y	-	1	0	POLR3A	79447434	0.997000	0.39634	0.941000	0.38009	0.997000	0.91878	4.000000	0.57039	2.257000	0.74773	0.528000	0.53228	TAT		0.443	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		58	59	0	0	0	1	0	58	59				
ZNF860	344787	broad.mit.edu	37	3	32030954	32030954	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030954T>C	ENST00000360311.4	+	2	932	c.383T>C	c.(382-384)aTg>aCg	p.M128T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						GAAGCAACTATGACACAAATC	0.383																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(382-384)aTg>aCg		zinc finger protein 860							61.0	46.0	51.0					3																	32030954		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030954T>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.383T>C	3.37:g.32030954T>C	ENSP00000373274:p.Met128Thr						p.M128T	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	932	+			128					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.383T>C	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	T	1.758	-0.487416	0.04352	.	.	ENSG00000197385	ENST00000360311	T	0.04502	3.61	0.248	0.248	0.15526	.	.	.	.	.	T	0.03739	0.0106	L	0.38838	1.175	0.09310	N	1	B	0.28350	0.208	B	0.21151	0.033	T	0.44003	-0.9356	7	.	.	.	.	.	.	.	.	128	A6NHJ4	ZN860_HUMAN	T	128	ENSP00000373274:M128T	.	M	+	2	0	ZNF860	32005958	0.015000	0.18098	0.003000	0.11579	0.003000	0.03518	1.919000	0.40015	0.317000	0.23160	0.308000	0.20428	ATG		0.383	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			4	52	0	0	0	1	0	4	52				
ACAP2	23527	broad.mit.edu	37	3	195022730	195022730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022730G>A	ENST00000326793.6	-	14	1520	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	430	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ACAAGGTGATGCCCAGGTTGA	0.527																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1288-1290)ggC>ggT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							137.0	140.0	139.0					3																	195022730		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195022730G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1290C>T	3.37:g.195022730G>A							p.G430G	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			14	1520	-			430			Arf-GAP.		A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.1290C>T	CCDS33924.1																																																																																				0.527	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		59	73	0	0	0	1	0	59	73				
HPX	3263	broad.mit.edu	37	11	6459619	6459619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6459619C>T	ENST00000265983.3	-	5	557	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	153					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCTTGACATTCTCCACGGTGA	0.512																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(457-459)Gaa>Aaa		hemopexin							195.0	174.0	181.0					11																	6459619		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6459619C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.457G>A	11.37:g.6459619C>T	ENSP00000265983:p.Glu153Lys					HPX_ENST00000525057.1_5'UTR	p.E153K	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	5	557	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	153					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.457G>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784666	0.90282	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.28255	1.62	4.15	4.15	0.48705	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	M	0.84326	2.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.64960	-0.6284	10	0.72032	D	0.01	-31.2948	13.9367	0.64029	0.0:1.0:0.0:0.0	.	153	P02790	HEMO_HUMAN	K	153	ENSP00000265983:E153K	ENSP00000265983:E153K	E	-	1	0	HPX	6416195	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.711000	0.68400	2.132000	0.65825	0.455000	0.32223	GAA		0.512	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		7	157	0	0	0	1	0	7	157				
IQGAP1	8826	broad.mit.edu	37	15	91025491	91025491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025491C>T	ENST00000268182.5	+	28	3657	c.3533C>T	c.(3532-3534)gCt>gTt	p.A1178V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A606V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1178	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCCCTGATGCTGGTGAGGAT	0.493											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3532-3534)gCt>gTt		IQ motif containing GTPase activating protein 1							114.0	99.0	104.0					15																	91025491		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91025491C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3533C>T	15.37:g.91025491C>T	ENSP00000268182:p.Ala1178Val		OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A606V	p.A1178V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		28	3657	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1178			C1.|Ras-GAP.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3533C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474170	0.84640	.	.	ENSG00000140575	ENST00000268182	T	0.80909	-1.43	6.17	6.17	0.99709	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	M	0.86573	2.825	0.80722	D	1	P	0.37441	0.595	B	0.33392	0.163	D	0.84336	0.0524	10	0.52906	T	0.07	-16.3266	18.0354	0.89301	0.0:1.0:0.0:0.0	.	1178	P46940	IQGA1_HUMAN	V	1178	ENSP00000268182:A1178V	ENSP00000268182:A1178V	A	+	2	0	IQGAP1	88826495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.671000	0.83941	2.941000	0.99782	0.655000	0.94253	GCT		0.493	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		13	36	0	0	0	1	0	13	36				
KIF21A	55605	broad.mit.edu	37	12	39725524	39725524	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39725524G>A	ENST00000361418.5	-	22	3136	c.3121C>T	c.(3121-3123)Cta>Tta	p.L1041L	KIF21A_ENST00000395670.3_Silent_p.L1041L|KIF21A_ENST00000361961.3_Silent_p.L1028L|KIF21A_ENST00000544797.2_Silent_p.L1028L|KIF21A_ENST00000541463.2_Silent_p.L1005L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1041					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGATCTAGCAGGTATCGG	0.368																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3121-3123)Cta>Tta		kinesin family member 21A							187.0	167.0	173.0					12																	39725524		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39725524G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3121C>T	12.37:g.39725524G>A						KIF21A_ENST00000544797.2_Silent_p.L1028L|KIF21A_ENST00000361961.3_Silent_p.L1028L|KIF21A_ENST00000361418.5_Silent_p.L1041L|KIF21A_ENST00000541463.2_Silent_p.L1005L	p.L1041L			Q7Z4S6	KI21A_HUMAN			22	3540	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1041					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.3121C>T	CCDS53776.1																																																																																				0.368	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		7	104	0	0	0	1	0	7	104				
SPTA1	6708	broad.mit.edu	37	1	158641244	158641244	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158641244C>A	ENST00000368147.4	-	12	1669		c.e12-1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e12-1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							73.0	70.0	71.0					1																	158641244		1875	4097	5972	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641244C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1489-1G>T	1.37:g.158641244C>A						SPTA1_ENST00000368147.3_Splice_Site		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			12	1669	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37		CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227058	0.79576	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4152	0.87498	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156907868	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	6.856000	0.75450	2.692000	0.91855	0.655000	0.94253	.		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	12	30	1	0	5.50884e-06	1	6.28354e-06	12	30				
PANK2	80025	broad.mit.edu	37	20	3888790	3888790	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3888790G>A	ENST00000316562.4	+	2	852	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PANK2_ENST00000610179.1_Silent_p.L159L|PANK2_ENST00000497424.1_5'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	282			L -> V (in NBIA1). {ECO:0000269|PubMed:11479594}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.L282L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGGCAATCTGCACTTTATAC	0.498																																						ENST00000316562.4																			1	Substitution - coding silent(1)	p.L282L(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(844-846)ctG>ctA		pantothenate kinase 2							148.0	122.0	131.0					20																	3888790		2203	4300	6503	SO:0001819	synonymous_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3888790G>A	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.846G>A	20.37:g.3888790G>A						PANK2_ENST00000336066.3_Intron|PANK2_ENST00000497424.1_5'UTR	p.L282L	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN			2	852	+			282		L -> V (in NBIA1).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	c.846G>A	CCDS13071.2																																																																																				0.498	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		6	89	0	0	0	1	0	6	89				
WIPF2	147179	broad.mit.edu	37	17	38420925	38420925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38420925G>A	ENST00000323571.4	+	5	737	c.497G>A	c.(496-498)aGc>aAc	p.S166N	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.S166N|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.S166N	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	166					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AATACCACCAGCAGTACGGGC	0.637										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(496-498)aGc>aAc		WAS/WASL interacting protein family, member 2							83.0	85.0	84.0					17																	38420925		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38420925G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.497G>A	17.37:g.38420925G>A	ENSP00000320924:p.Ser166Asn	HNSCC(43;0.11)				WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S166N|WIPF2_ENST00000583130.1_Missense_Mutation_p.S166N|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR	p.S166N	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	737	+			166					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.497G>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715677	0.48622	.	.	ENSG00000171475	ENST00000323571	T	0.33216	1.42	5.81	5.81	0.92471	.	0.413451	0.27105	N	0.020919	T	0.28732	0.0712	L	0.46157	1.445	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.04752	-1.0929	10	0.18710	T	0.47	-10.059	15.6002	0.76620	0.0:0.1369:0.8631:0.0	.	166	Q8TF74	WIPF2_HUMAN	N	166	ENSP00000320924:S166N	ENSP00000320924:S166N	S	+	2	0	WIPF2	35674451	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.942000	0.56614	2.762000	0.94881	0.549000	0.68633	AGC		0.637	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		33	68	0	0	0	1	0	33	68				
PTGES3L	100885848	broad.mit.edu	37	17	41131673	41131673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41131673C>T	ENST00000453594.1	-	2	490	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.A49T|RUNDC1_ENST00000361677.1_5'Flank|PTGES3L-AARSD1_ENST00000409103.1_5'UTR|PTGES3L_ENST00000409446.3_Intron|PTGES3L-AARSD1_ENST00000360221.4_5'UTR|RP11-376M2.2_ENST00000587526.1_RNA|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.A49T	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	49	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.																AAGGTCCGGGCGTGCTGCCTG	0.542																																						ENST00000421990.2																			0											c.(145-147)Gcc>Acc									57.0	53.0	55.0					17																	41131673		2203	4300	6503	SO:0001583	missense	0							g.chr17:41131673C>T		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.145G>A	17.37:g.41131673C>T	ENSP00000394415:p.Ala49Thr					PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.A49T|PTGES3L_ENST00000409446.3_Intron|PTGES3L-AARSD1_ENST00000409103.1_5'UTR|PTGES3L-AARSD1_ENST00000360221.4_5'UTR|PTGES3L_ENST00000453594.1_Missense_Mutation_p.A49T	p.A49T	NM_001136042.2	NP_001129514.2					2	490	-									Missense_Mutation	SNP	ENST00000453594.1	37	c.145G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.002077|5.002077	0.93227|0.93227	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000409399;ENST00000421990;ENST00000453594;ENST00000451885|ENST00000452752	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|.	.|.	.|.	.|.	T|T	0.75693|0.75693	0.3884|0.3884	M|M	0.72894|0.72894	2.215|2.215	.|.	.|.	.|.	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	T|T	0.75326|0.75326	-0.3357|-0.3357	8|4	0.72032|.	D|.	0.01|.	-9.7405|-9.7405	18.5256|18.5256	0.90971|0.90971	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	49;49|.	E9PB15;B4DI73|.	.;.|.	T|H	49|3	ENSP00000386621:A49T;ENSP00000409924:A49T;ENSP00000394415:A49T|.	ENSP00000386621:A49T|.	A|R	-|-	1|2	0|0	AARSD1|AARSD1	38385199|38385199	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.586000|0.586000	0.36452|0.36452	5.115000|5.115000	0.64655|0.64655	2.590000|2.590000	0.87494|0.87494	0.643000|0.643000	0.83706|0.83706	GCC|CGC		0.542	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		5	16	0	0	0	1	0	5	16				
NFS1	9054	broad.mit.edu	37	20	34284379	34284379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34284379C>A	ENST00000374092.4	-	4	398	c.328G>T	c.(328-330)Gta>Tta	p.V110L	ROMO1_ENST00000374077.3_5'Flank|NFS1_ENST00000540053.1_5'UTR|ROMO1_ENST00000374078.1_5'Flank|NFS1_ENST00000541387.1_Missense_Mutation_p.V110L|NFS1_ENST00000397425.1_Missense_Mutation_p.V50L|ROMO1_ENST00000374072.1_5'Flank|NFS1_ENST00000374085.1_Missense_Mutation_p.V50L|ROMO1_ENST00000397416.1_5'Flank|ROMO1_ENST00000336695.4_5'Flank|NFS1_ENST00000306750.3_Missense_Mutation_p.V110L	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	110					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	AGAGATGCTACTTGCTGCAAG	0.463																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(328-330)Gta>Tta		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						173.0	164.0	167.0					20																	34284379		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34284379C>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.328G>T	20.37:g.34284379C>A	ENSP00000363205:p.Val110Leu					NFS1_ENST00000541387.1_Missense_Mutation_p.V110L|NFS1_ENST00000374085.1_Missense_Mutation_p.V50L|NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000306750.3_Missense_Mutation_p.V110L|NFS1_ENST00000397425.1_Missense_Mutation_p.V50L	p.V110L	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		4	398	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		110					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.328G>T	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297360	0.60086	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000541387;ENST00000537772;ENST00000419569;ENST00000306750	D;D;D;T;T;D	0.88664	-2.41;-2.41;-2.41;1.53;1.77;-2.41	4.7	4.7	0.59300	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.91945	0.7449	L	0.60904	1.88	0.80722	D	1	B;D;P	0.65815	0.041;0.995;0.693	B;D;P	0.65323	0.073;0.934;0.512	D	0.92291	0.5841	10	0.72032	D	0.01	-3.5547	12.2931	0.54829	0.0:0.918:0.0:0.082	.	110;110;110	F5GYK5;Q8WV90;Q9Y697	.;.;NFS1_HUMAN	L	110;50;50;110;110;50;110	ENSP00000363205:V110L;ENSP00000363198:V50L;ENSP00000380570:V50L;ENSP00000440897:V110L;ENSP00000393482:V50L;ENSP00000304740:V110L	ENSP00000304740:V110L	V	-	1	0	NFS1	33747793	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.549000	0.67261	2.430000	0.82344	0.411000	0.27672	GTA		0.463	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		24	74	1	0	3.5997e-14	1	4.58862e-14	24	74				
NAPSA	9476	broad.mit.edu	37	19	50864365	50864365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864365G>A	ENST00000253719.2	-	5	709	c.501C>T	c.(499-501)ttC>ttT	p.F167F	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	167					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GAGCCTCCCCGAAAATCACTG	0.517																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(499-501)ttC>ttT		napsin A aspartic peptidase							84.0	86.0	85.0					19																	50864365		2203	4300	6503	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864365G>A	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.501C>T	19.37:g.50864365G>A						NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.F167F	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	709	-		all_neural(266;0.057)	167					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.501C>T	CCDS12794.1																																																																																				0.517	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		19	96	0	0	0	1	0	19	96				
CD99L2	83692	broad.mit.edu	37	X	149963705	149963705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963705C>T	ENST00000370377.3	-	6	521	c.404G>A	c.(403-405)cGc>cAc	p.R135H	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R63H|CD99L2_ENST00000466436.1_Missense_Mutation_p.R86H|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	135					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTTCCTGCGGCCATCATC	0.478																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(403-405)cGc>cAc		CD99 molecule-like 2							156.0	158.0	157.0					X																	149963705		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149963705C>T	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.404G>A	X.37:g.149963705C>T	ENSP00000359403:p.Arg135His					CD99L2_ENST00000355149.3_Missense_Mutation_p.R63H|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.R86H	p.R135H	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			6	521	-	Acute lymphoblastic leukemia(192;6.56e-05)		135					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.404G>A	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519712	0.27211	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	3.67	-4.05	0.03998	.	1.014450	0.07870	N	0.967678	T	0.40145	0.1105	M	0.69823	2.125	0.09310	N	0.999995	D;D;D	0.65815	0.986;0.957;0.995	P;P;P	0.60886	0.578;0.583;0.88	T	0.39440	-0.9614	9	.	.	.	-1.7665	7.2396	0.26090	0.0:0.1858:0.1468:0.6673	.	63;86;135	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	H	135;139;63;86;98	ENSP00000359403:R135H;ENSP00000347275:R63H;ENSP00000417697:R86H;ENSP00000391821:R98H	.	R	-	2	0	CD99L2	149714363	0.000000	0.05858	0.000000	0.03702	0.764000	0.43329	-3.263000	0.00535	-1.364000	0.02161	0.513000	0.50165	CGC		0.478	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		61	135	0	0	0	1	0	61	135				
PTPN14	5784	broad.mit.edu	37	1	214576228	214576228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214576228G>A	ENST00000366956.5	-	6	773	c.579C>T	c.(577-579)caC>caT	p.H193H	PTPN14_ENST00000543945.1_Silent_p.H193H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	193	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTTACCTGTGGGCTTTGT	0.532																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(577-579)caC>caT		protein tyrosine phosphatase, non-receptor type 14							192.0	163.0	173.0					1																	214576228		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214576228G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.579C>T	1.37:g.214576228G>A						PTPN14_ENST00000543945.1_Silent_p.H193H	p.H193H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	6	773	-			193			FERM.		Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.579C>T	CCDS1514.1																																																																																				0.532	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		16	150	0	0	0	1	0	16	150				
RMND5B	64777	broad.mit.edu	37	5	177571012	177571012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:177571012G>A	ENST00000515098.1	+	8	948	c.597G>A	c.(595-597)ctG>ctA	p.L199L	RMND5B_ENST00000542098.1_Silent_p.L186L|RMND5B_ENST00000313386.4_Silent_p.L199L			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	199	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCGACTGCACTTCATCC	0.632																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(595-597)ctG>ctA		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							62.0	67.0	65.0					5																	177571012		2203	4300	6503	SO:0001819	synonymous_variant	64777							g.chr5:177571012G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.597G>A	5.37:g.177571012G>A						RMND5B_ENST00000313386.4_Silent_p.L199L|RMND5B_ENST00000542098.1_Silent_p.L186L	p.L199L			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	948	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	199			CTLH.		Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	c.597G>A	CCDS4431.1																																																																																				0.632	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		7	67	0	0	0	1	0	7	67				
OTUD3	23252	broad.mit.edu	37	1	20234222	20234222	+	Missense_Mutation	SNP	G	G	A	rs199722871		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20234222G>A	ENST00000375120.3	+	8	1181	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	394					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACCTTCGCCGCTCTCAA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18348	0.0		0.0	False		,,,				2504	0.0					ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(1180-1182)Gcc>Acc		OTU domain containing 3		G	THR/ALA	0,4138		0,0,2069	62.0	71.0	68.0		1180	5.9	0.9	1		68	5,8397		0,5,4196	yes	missense	OTUD3	NM_015207.1	58	0,5,6265	AA,AG,GG		0.0595,0.0,0.0399	possibly-damaging	394/399	20234222	5,12535	2069	4201	6270	SO:0001583	missense	23252							g.chr1:20234222G>A	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.1180G>A	1.37:g.20234222G>A	ENSP00000364261:p.Ala394Thr						p.A394T	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	1181	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	394					O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.1180G>A	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314147	0.81358	0.0	5.95E-4	ENSG00000169914	ENST00000375120	T	0.25085	1.82	5.93	5.93	0.95920	.	0.155684	0.56097	D	0.000025	T	0.24314	0.0589	L	0.27053	0.805	0.39624	D	0.970077	D	0.58970	0.984	P	0.45712	0.491	T	0.01591	-1.1317	10	0.21540	T	0.41	.	18.9006	0.92440	0.0:0.0:1.0:0.0	.	394	Q5T2D3	OTUD3_HUMAN	T	394	ENSP00000364261:A394T	ENSP00000364261:A394T	A	+	1	0	OTUD3	20106809	1.000000	0.71417	0.934000	0.37439	0.994000	0.84299	5.182000	0.65059	2.805000	0.96524	0.655000	0.94253	GCC		0.542	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			15	17	0	0	0	1	0	15	17				
KRT2	3849	broad.mit.edu	37	12	53040720	53040720	+	Missense_Mutation	SNP	C	C	T	rs148103071	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53040720C>T	ENST00000309680.3	-	7	1294	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	425	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCGGCATCTGCGATGGCATCT	0.572																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1273-1275)Gca>Aca		keratin 2		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	97.0	85.0	89.0		1273	3.6	1.0	12	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT2	NM_000423.2	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	425/640	53040720	2,13004	2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53040720C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1273G>A	12.37:g.53040720C>T	ENSP00000310861:p.Ala425Thr						p.A425T	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	7	1294	-			425			Coil 2.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1273G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613124	0.66672	2.27E-4	1.16E-4	ENSG00000172867	ENST00000309680	T	0.76448	-1.02	4.48	3.58	0.41010	Filament (1);	.	.	.	.	T	0.70029	0.3177	L	0.47716	1.5	0.36992	D	0.89482	P	0.47191	0.891	B	0.41646	0.362	T	0.74256	-0.3724	9	0.48119	T	0.1	.	9.8399	0.40993	0.0:0.8165:0.0:0.1835	.	425	P35908	K22E_HUMAN	T	425	ENSP00000310861:A425T	ENSP00000310861:A425T	A	-	1	0	KRT2	51326987	0.000000	0.05858	0.991000	0.47740	0.950000	0.60333	-0.099000	0.11007	1.245000	0.43885	0.563000	0.77884	GCA		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		32	44	0	0	0	1	0	32	44				
SEMA5B	54437	broad.mit.edu	37	3	122646755	122646755	+	Missense_Mutation	SNP	C	C	A	rs144152379	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122646755C>A	ENST00000357599.3	-	8	1118	c.732G>T	c.(730-732)caG>caT	p.Q244H	SEMA5B_ENST00000195173.4_Missense_Mutation_p.Q244H|AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Missense_Mutation_p.Q298H	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	244	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAGCTCCCCCTGGGAGGAGA	0.617																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(730-732)caG>caT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		C	HIS/GLN	4,4402	8.1+/-20.4	0,4,2199	93.0	87.0	89.0		732	1.8	1.0	3	dbSNP_134	89	0,8600		0,0,4300	no	missense	SEMA5B	NM_001031702.2	24	0,4,6499	AA,AC,CC		0.0,0.0908,0.0308	benign	244/1152	122646755	4,13002	2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646755C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.732G>T	3.37:g.122646755C>A	ENSP00000350215:p.Gln244His					SEMA5B_ENST00000451055.2_Missense_Mutation_p.Q298H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.Q244H	p.Q244H			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	1035	-			244			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.732G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525451	0.64860	9.08E-4	0.0	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.53	1.79	0.24919	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.440582	0.25912	N	0.027496	T	0.21307	0.0513	L	0.34521	1.04	0.35127	D	0.76763	P;P;P	0.49358	0.905;0.923;0.923	P;P;P	0.53266	0.6;0.722;0.722	T	0.21759	-1.0236	10	0.56958	D	0.05	.	4.9109	0.13821	0.1404:0.5468:0.0:0.3128	.	186;244;244	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	H	244;244;186;298;244	ENSP00000350215:Q244H;ENSP00000195173:Q244H;ENSP00000389588:Q298H;ENSP00000377208:Q244H	ENSP00000195173:Q244H	Q	-	3	2	SEMA5B	124129445	0.995000	0.38212	0.998000	0.56505	0.961000	0.63080	0.262000	0.18460	0.154000	0.19237	0.655000	0.94253	CAG		0.617	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		4	55	1	0	2.56e-06	1	2.9446e-06	4	55				
PDE6C	5146	broad.mit.edu	37	10	95385337	95385337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95385337C>A	ENST00000371447.3	+	5	1008	c.870C>A	c.(868-870)ttC>ttA	p.F290L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	290	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TCCAGGAATTCTACGATGAAT	0.373																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(868-870)ttC>ttA		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							102.0	93.0	96.0					10																	95385337		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95385337C>A	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.870C>A	10.37:g.95385337C>A	ENSP00000360502:p.Phe290Leu						p.F290L	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			5	1008	+		Colorectal(252;0.123)	290			GAF 2.		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.870C>A	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732923	0.69189	.	.	ENSG00000095464	ENST00000371447	T	0.69435	-0.4	4.69	2.8	0.32819	GAF (2);	0.143817	0.64402	D	0.000005	T	0.77082	0.4078	M	0.65677	2.01	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.75213	-0.3397	10	0.45353	T	0.12	.	10.4897	0.44744	0.0:0.8389:0.0:0.1611	.	290	P51160	PDE6C_HUMAN	L	290	ENSP00000360502:F290L	ENSP00000360502:F290L	F	+	3	2	PDE6C	95375327	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	0.897000	0.28390	0.662000	0.31006	0.655000	0.94253	TTC		0.373	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		6	42	1	0	8.12818e-05	1	8.99451e-05	6	42				
COA3	28958	broad.mit.edu	37	17	40950138	40950138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40950138G>A	ENST00000328434.7	-	2	284	c.262C>T	c.(262-264)Cta>Tta	p.L88L	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_001040431.1	NP_001035521.1	Q9Y2R0	COA3_HUMAN	cytochrome c oxidase assembly factor 3	88					mitochondrial respiratory chain complex IV assembly (GO:0033617)|positive regulation of mitochondrial translation (GO:0070131)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											TCGTCTTCTAGCTCATCTAGG	0.537																																						ENST00000328434.7																			0											c.(262-264)Cta>Tta		cytochrome c oxidase assembly factor 3							68.0	61.0	63.0					17																	40950138		2203	4300	6503	SO:0001819	synonymous_variant	28958							g.chr17:40950138G>A	AF070665	CCDS32660.1	17q21.31	2014-01-28	2012-10-15	2012-08-07				"""Mitochondrial respiratory chain complex assembly factors"""	24990	protein-coding gene	gene with protein product		614775	"""coiled-coil domain containing 56"""	CCDC56		22356826, 22610097	Standard	NM_001040431		Approved	HSPC009, MITRAC12	uc010wgz.2	Q9Y2R0		ENST00000328434.7:c.262C>T	17.37:g.40950138G>A							p.L88L	NM_001040431.1	NP_001035521.1					2	284	-								A8K498	Silent	SNP	ENST00000328434.7	37	c.262C>T	CCDS32660.1																																																																																				0.537	COA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452397.1	NM_014019		10	44	0	0	0	1	0	10	44				
GIT2	9815	broad.mit.edu	37	12	110429453	110429453	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110429453C>T	ENST00000355312.3	-	2	164	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GIT2_ENST00000343646.5_Silent_p.P55P|GIT2_ENST00000338373.5_Silent_p.P55P|GIT2_ENST00000360185.4_Silent_p.P55P|GIT2_ENST00000356259.4_Silent_p.P55P|GIT2_ENST00000361006.5_Silent_p.P55P|GIT2_ENST00000553118.1_Silent_p.P55P|GIT2_ENST00000354574.4_Silent_p.P55P|GIT2_ENST00000547815.1_Silent_p.P55P|GIT2_ENST00000457474.2_Silent_p.P55P|GIT2_ENST00000320063.9_Silent_p.P55P|GIT2_ENST00000551209.1_Silent_p.P55P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	55	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTGGAGGCCACGGTGTGTGTT	0.438																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(163-165)ccG>ccA		G protein-coupled receptor kinase interacting ArfGAP 2							150.0	132.0	138.0					12																	110429453		2203	4300	6503	SO:0001819	synonymous_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110429453C>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.165G>A	12.37:g.110429453C>T						GIT2_ENST00000355312.3_Silent_p.P55P|GIT2_ENST00000361006.5_Silent_p.P55P|GIT2_ENST00000343646.5_Silent_p.P55P|GIT2_ENST00000547815.1_Silent_p.P55P|GIT2_ENST00000457474.2_Silent_p.P55P|GIT2_ENST00000338373.5_Silent_p.P55P|GIT2_ENST00000356259.4_Silent_p.P55P|GIT2_ENST00000551209.1_Silent_p.P55P|GIT2_ENST00000553118.1_Silent_p.P55P|GIT2_ENST00000354574.4_Silent_p.P55P|GIT2_ENST00000320063.9_Silent_p.P55P	p.P55P			Q14161	GIT2_HUMAN			2	329	-			55			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	37	c.165G>A	CCDS9138.1																																																																																				0.438	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		8	55	0	0	0	1	0	8	55				
STAG3L2	442582	broad.mit.edu	37	7	74301237	74301237	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74301237G>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AATGCAGATAGCACGGATCTC	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5															83.0	73.0	76.0					7																	74301237		2199	4256	6455			0					nucleus	binding	g.chr7:74301237G>T			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74301237G>T										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	SNP	ENST00000423186.1	37			.	.	.	.	.	.	.	.	.	.	G	7.531	0.658719	0.14645	.	.	ENSG00000160828	ENST00000457631;ENST00000448772;ENST00000429726	.	.	.	.	.	.	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.322809	0.22403	N	0.060505	T	0.61286	0.2335	.	.	.	0.37410	D	0.913188	D	0.61697	0.99	D	0.65684	0.937	T	0.64935	-0.6290	5	.	.	.	.	5.8178	0.18506	0.001:0.0:0.999:0.0	.	23	P0CL84	ST3L2_HUMAN	D	23	.	.	A	-	2	0	STAG3L2	73939173	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.295000	0.51794	-0.000000	0.14550	0.000000	0.15137	GCT		0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		21	346	1	0	1.38267e-23	1	1.83153e-23	21	346				
CAMK1D	57118	broad.mit.edu	37	10	12867689	12867689	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12867689T>A	ENST00000378847.3	+	10	1376	c.1039T>A	c.(1039-1041)Tgt>Agt	p.C347S	CAMK1D_ENST00000378845.1_Missense_Mutation_p.C347S	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	347	Ser-rich.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCAAAAAGACTGTGCGTATGT	0.552																																						ENST00000378845.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(1039-1041)Tgt>Agt		calcium/calmodulin-dependent protein kinase ID							137.0	130.0	132.0					10																	12867689		2203	4300	6503	SO:0001630	splice_region_variant	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12867689T>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1039+1T>A	10.37:g.12867689T>A						CAMK1D_ENST00000378847.3_Splice_Site_p.C347_splice	p.C347S	NM_020397.2	NP_065130.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	10	1125	+			347			Ser-rich.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1039T>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184287	0.38609	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.65549	-0.16;-0.13	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	N	0.10916	0.065	0.35538	D	0.80282	P;B	0.40431	0.717;0.118	P;B	0.45377	0.478;0.025	T	0.51004	-0.8760	10	0.07175	T	0.84	-14.8651	13.9183	0.63914	0.0:0.0:0.0:1.0	.	347;347	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	S	347	ENSP00000368124:C347S;ENSP00000368122:C347S	ENSP00000368122:C347S	C	+	1	0	CAMK1D	12907695	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.173000	0.58249	2.074000	0.62210	0.528000	0.53228	TGT		0.552	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	Missense_Mutation	38	64	0	0	0	1	0	38	64				
FAM193A	8603	broad.mit.edu	37	4	2692619	2692619	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2692619T>G	ENST00000324666.5	+	13	2203	c.1852T>G	c.(1852-1854)Tct>Gct	p.S618A	FAM193A_ENST00000502458.1_Missense_Mutation_p.S640A|FAM193A_ENST00000382839.3_Missense_Mutation_p.S618A|FAM193A_ENST00000505311.1_Missense_Mutation_p.S618A|FAM193A_ENST00000545951.1_Missense_Mutation_p.S618A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	618										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGCCACGTCCTCTGTGTCCTG	0.458																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1852-1854)Tct>Gct		family with sequence similarity 193, member A							98.0	91.0	94.0					4																	2692619		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2692619T>G	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1852T>G	4.37:g.2692619T>G	ENSP00000324587:p.Ser618Ala					FAM193A_ENST00000545951.1_Missense_Mutation_p.S618A|FAM193A_ENST00000505311.1_Missense_Mutation_p.S618A|FAM193A_ENST00000382839.3_Missense_Mutation_p.S618A|FAM193A_ENST00000502458.1_Missense_Mutation_p.S640A	p.S618A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			13	2203	+			618					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1852T>G	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.531073	0.64972	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.59	5.59	0.84812	.	0.100830	0.64402	D	0.000001	D	0.85053	0.5609	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996	D;D;D;D;D	0.77557	0.99;0.99;0.99;0.987;0.99	D	0.85377	0.1117	10	0.49607	T	0.09	-10.7958	14.9954	0.71428	0.0:0.0:0.0:1.0	.	618;640;618;640;618	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	A	618;618;618;640;472	ENSP00000372290:S618A;ENSP00000324587:S618A;ENSP00000443617:S618A;ENSP00000427505:S640A;ENSP00000427260:S472A	ENSP00000324587:S618A	S	+	1	0	FAM193A	2662417	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	7.498000	0.81546	2.147000	0.66899	0.449000	0.29647	TCT		0.458	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		5	64	0	0	0	1	0	5	64				
SLC8A1	6546	broad.mit.edu	37	2	40342396	40342396	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40342396G>A	ENST00000403092.1	-	11	2952	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	SLC8A1_ENST00000406785.2_Silent_p.F937F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F937F|SLC8A1_ENST00000408028.2_Silent_p.F965F|SLC8A1_ENST00000332839.4_Silent_p.F973F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F937F|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.F937F|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F968F|SLC8A1_ENST00000405901.3_Silent_p.F968F|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F937F|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	973					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTCCTTTAGAAGCCTTTTA	0.383																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2809-2811)ttC>ttT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						26.0	30.0	29.0					2																	40342396		2199	4300	6499	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342396G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2919C>T	2.37:g.40342396G>A						SLC8A1_ENST00000403092.1_Silent_p.F973F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F937F|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F968F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F965F|SLC8A1_ENST00000406391.2_Silent_p.F937F|SLC8A1_ENST00000405901.3_Silent_p.F968F|SLC8A1_ENST00000405269.1_Silent_p.F937F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F937F|SLC8A1_ENST00000332839.4_Silent_p.F973F	p.F937F			P32418	NAC1_HUMAN			8	3000	-			973					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2811C>T	CCDS1806.1																																																																																				0.383	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		16	24	0	0	0	1	0	16	24				
KCNH6	81033	broad.mit.edu	37	17	61611329	61611329	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61611329G>T	ENST00000583023.1	+	5	769	c.758G>T	c.(757-759)aGc>aTc	p.S253I	KCNH6_ENST00000314672.5_Missense_Mutation_p.S253I|KCNH6_ENST00000456941.2_Missense_Mutation_p.S253I|KCNH6_ENST00000580652.1_Missense_Mutation_p.S253I|KCNH6_ENST00000581784.1_Missense_Mutation_p.S253I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	253					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTGCACTACAGCCCCTTCAAG	0.662																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(757-759)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						148.0	122.0	130.0					17																	61611329		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611329G>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.758G>T	17.37:g.61611329G>T	ENSP00000463533:p.Ser253Ile					KCNH6_ENST00000456941.2_Missense_Mutation_p.S253I|KCNH6_ENST00000580652.1_Missense_Mutation_p.S253I|KCNH6_ENST00000314672.5_Missense_Mutation_p.S253I|KCNH6_ENST00000581784.1_Missense_Mutation_p.S253I	p.S253I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			5	769	+			253					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.758G>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942277	0.34283	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.97888	-4.59;-4.59	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	M	0.83953	2.67	0.80722	D	1	P;P;D;P;D	0.76494	0.928;0.927;0.998;0.927;0.999	P;P;D;P;D	0.78314	0.886;0.895;0.99;0.864;0.991	D	0.99809	1.1040	10	0.87932	D	0	.	16.6996	0.85345	0.0:0.0:1.0:0.0	.	130;253;253;253;253	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	I	253	ENSP00000318212:S253I;ENSP00000396900:S253I	ENSP00000318212:S253I	S	+	2	0	KCNH6	58965061	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	9.652000	0.98499	2.153000	0.67306	0.305000	0.20034	AGC		0.662	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		12	92	1	0	1.08611e-07	1	1.2824e-07	12	92				
OTUD7A	161725	broad.mit.edu	37	15	31862287	31862287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31862287G>A	ENST00000307050.4	-	2	357	c.265C>T	c.(265-267)Cga>Tga	p.R89*	OTUD7A_ENST00000382902.1_Nonsense_Mutation_p.R89*	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	89					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R89*(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTGGCTCTCGCTCTGGCTGC	0.642																																						ENST00000382902.1																			1	Substitution - Nonsense(1)	p.R89*(1)	endometrium(1)	endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(265-267)Cga>Tga		OTU domain containing 7A							65.0	60.0	61.0					15																	31862287		2201	4300	6501	SO:0001587	stop_gained	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31862287G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.265C>T	15.37:g.31862287G>A	ENSP00000305926:p.Arg89*					OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.R89*	p.R89*			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	2	357	-		all_lung(180;1.6e-09)	89					Q8IWK5	Nonsense_Mutation	SNP	ENST00000307050.4	37	c.265C>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710560	0.89112	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	.	.	.	5.28	4.24	0.50183	.	0.529823	0.19151	N	0.121459	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.6117	13.2075	0.59805	0.0:0.0:0.7047:0.2953	.	.	.	.	X	89	.	ENSP00000305926:R89X	R	-	1	2	OTUD7A	29649579	0.993000	0.37304	0.979000	0.43373	0.946000	0.59487	2.155000	0.42301	2.626000	0.88956	0.655000	0.94253	CGA		0.642	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		21	28	0	0	0	1	0	21	28				
GPR88	54112	broad.mit.edu	37	1	101005515	101005515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101005515C>T	ENST00000315033.4	+	2	1432	c.993C>T	c.(991-993)ctC>ctT	p.L331L		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	331					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TGTCCGCGCTCAATCCGCTGC	0.726																																						ENST00000315033.4																			0				large_intestine(2)|skin(1)	3						c.(991-993)ctC>ctT		G protein-coupled receptor 88							8.0	10.0	9.0					1																	101005515		2145	4202	6347	SO:0001819	synonymous_variant	54112					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:101005515C>T	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.993C>T	1.37:g.101005515C>T							p.L331L	NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)	2	1432	+		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)	331					Q29S24|Q6VN48	Silent	SNP	ENST00000315033.4	37	c.993C>T	CCDS772.1																																																																																				0.726	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1	NM_022049		8	13	0	0	0	1	0	8	13				
PTPRZ1	5803	broad.mit.edu	37	7	121653746	121653746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121653746G>A	ENST00000393386.2	+	12	5057	c.4646G>A	c.(4645-4647)aGt>aAt	p.S1549N	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1549					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1549E(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGAAGAAAGTGGATCAGGG	0.433																																						ENST00000393386.2																			1	Substitution - Missense(1)	p.G1549E(1)	skin(1)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(4645-4647)aGt>aAt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							130.0	123.0	125.0					7																	121653746		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121653746G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4646G>A	7.37:g.121653746G>A	ENSP00000377047:p.Ser1549Asn					PTPRZ1_ENST00000449182.1_Intron	p.S1549N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	5057	+			1549					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4646G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677303	0.88445	.	.	ENSG00000106278	ENST00000393386	T	0.57107	0.42	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	P	0.58391	0.838	T	0.71258	-0.4646	10	0.66056	D	0.02	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	1549	P23471	PTPRZ_HUMAN	N	1549	ENSP00000377047:S1549N	ENSP00000377047:S1549N	S	+	2	0	PTPRZ1	121440982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.864000	0.87037	2.878000	0.98634	0.650000	0.86243	AGT		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		30	69	0	0	0	1	0	30	69				
ITPR2	3709	broad.mit.edu	37	12	26636744	26636744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26636744T>C	ENST00000381340.3	-	42	6315	c.5899A>G	c.(5899-5901)Acc>Gcc	p.T1967A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1967					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGGCCACCGGTTGTACTTCCA	0.473																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5899-5901)Acc>Gcc		inositol 1,4,5-trisphosphate receptor, type 2							180.0	172.0	174.0					12																	26636744		1870	4109	5979	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26636744T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5899A>G	12.37:g.26636744T>C	ENSP00000370744:p.Thr1967Ala						p.T1967A	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			42	6315	-	Colorectal(261;0.0847)		1967					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5899A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	t	23.9	4.468424	0.84533	.	.	ENSG00000123104	ENST00000381340	T	0.66638	-0.22	5.17	5.17	0.71159	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.87456	2.885	0.80722	D	1	P	0.37083	0.581	P	0.45946	0.498	T	0.80699	-0.1266	10	0.52906	T	0.07	.	15.1758	0.72910	0.0:0.0:0.0:1.0	.	1967	Q14571	ITPR2_HUMAN	A	1967	ENSP00000370744:T1967A	ENSP00000370744:T1967A	T	-	1	0	ITPR2	26528011	1.000000	0.71417	0.278000	0.24718	0.897000	0.52465	7.805000	0.86005	2.158000	0.67659	0.478000	0.44815	ACC		0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		16	158	0	0	0	1	0	16	158				
TMEM43	79188	broad.mit.edu	37	3	14183116	14183116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14183116G>T	ENST00000306077.4	+	12	1278	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	342					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGTTTTCCGAGACCTGGTCAA	0.577																																						ENST00000306077.4																			0				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						c.(1024-1026)Gac>Tac		transmembrane protein 43							181.0	140.0	154.0					3																	14183116		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14183116G>T	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.1024G>T	3.37:g.14183116G>T	ENSP00000303992:p.Asp342Tyr					RP11-434D12.1_ENST00000601399.1_RNA	p.D342Y	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN			12	1278	+			342					Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.1024G>T	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007735	0.93287	.	.	ENSG00000170876	ENST00000306077	T	0.37058	1.22	5.71	5.71	0.89125	.	0.103355	0.64402	D	0.000004	T	0.48333	0.1494	L	0.29908	0.895	0.80722	D	1	D	0.61080	0.989	P	0.61070	0.883	T	0.46275	-0.9203	10	0.66056	D	0.02	-39.9708	19.8516	0.96743	0.0:0.0:1.0:0.0	.	342	Q9BTV4	TMM43_HUMAN	Y	342	ENSP00000303992:D342Y	ENSP00000303992:D342Y	D	+	1	0	TMEM43	14158117	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.114000	0.94329	2.685000	0.91497	0.585000	0.79938	GAC		0.577	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		18	27	1	0	7.07596e-05	1	7.86387e-05	18	27				
SHB	6461	broad.mit.edu	37	9	38068631	38068631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38068631C>T	ENST00000377707.3	-	1	577	c.12G>A	c.(10-12)tgG>tgA	p.W4*	SHB_ENST00000377700.4_Nonsense_Mutation_p.W4*|RP11-613M10.9_ENST00000540557.1_Nonsense_Mutation_p.W4*	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	4	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACTTGTTTAGCCACTTGGCCA	0.741																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(10-12)tgG>tgA		Src homology 2 domain containing adaptor protein B							6.0	6.0	6.0					9																	38068631		985	2255	3240	SO:0001587	stop_gained	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38068631C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.12G>A	9.37:g.38068631C>T	ENSP00000366936:p.Trp4*					SHB_ENST00000377700.4_Nonsense_Mutation_p.W4*|RP11-613M10.9_ENST00000540557.1_Nonsense_Mutation_p.W4*	p.W4*	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	1	577	-		all_epithelial(88;0.122)	4			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Nonsense_Mutation	SNP	ENST00000377707.3	37	c.12G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	43	10.312177	0.99381	.	.	ENSG00000107338	ENST00000377707;ENST00000377700	.	.	.	3.55	3.55	0.40652	.	0.000000	0.46758	D	0.000269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.9195	13.0448	0.58920	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000366929:W4X	W	-	3	0	SHB	38058631	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.569000	0.45973	1.699000	0.51192	0.436000	0.28706	TGG		0.741	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			5	7	0	0	0	1	0	5	7				
IKZF3	22806	broad.mit.edu	37	17	37922061	37922061	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37922061G>A	ENST00000346872.3	-	8	1573	c.1512C>T	c.(1510-1512)caC>caT	p.H504H	IKZF3_ENST00000439016.2_Silent_p.H409H|IKZF3_ENST00000394189.2_Silent_p.H322H|IKZF3_ENST00000439167.2_Silent_p.H431H|IKZF3_ENST00000346243.3_Silent_p.H426H|IKZF3_ENST00000535189.1_Silent_p.H470H|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000351680.3_Silent_p.H465H|IKZF3_ENST00000377952.2_Silent_p.H283H|IKZF3_ENST00000350532.3_Silent_p.H465H|IKZF3_ENST00000377958.2_Silent_p.H417H|IKZF3_ENST00000377945.3_Silent_p.H370H|IKZF3_ENST00000377944.3_Silent_p.H361H|IKZF3_ENST00000583368.1_Silent_p.H257H|IKZF3_ENST00000467757.1_Silent_p.H448H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	504					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAGGGCTCTGTGTTCTCCTC	0.483																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1510-1512)caC>caT		IKAROS family zinc finger 3 (Aiolos)							93.0	91.0	92.0					17																	37922061		2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922061G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1512C>T	17.37:g.37922061G>A						IKZF3_ENST00000467757.1_Silent_p.H448H|IKZF3_ENST00000439167.2_Silent_p.H431H|IKZF3_ENST00000394189.2_Silent_p.H322H|IKZF3_ENST00000377944.3_Silent_p.H361H|IKZF3_ENST00000377952.2_Silent_p.H283H|IKZF3_ENST00000350532.3_Silent_p.H465H|IKZF3_ENST00000346243.3_Silent_p.H426H|IKZF3_ENST00000439016.2_Silent_p.H409H|IKZF3_ENST00000377945.3_Silent_p.H370H|IKZF3_ENST00000583368.1_Silent_p.H257H|IKZF3_ENST00000377958.2_Silent_p.H417H|IKZF3_ENST00000351680.3_Silent_p.H465H|IKZF3_ENST00000535189.1_Silent_p.H470H	p.H504H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1573	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		504					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.1512C>T	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	4.909	0.168999	0.09339	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.73908	0.3647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72527	-0.4266	4	.	.	.	-18.4825	17.5725	0.87939	0.0:0.0:1.0:0.0	.	.	.	.	I	419;458	.	.	T	-	2	0	IKZF3	35175587	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.425000	0.44723	2.580000	0.87095	0.591000	0.81541	ACA		0.483	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		10	71	0	0	0	1	0	10	71				
KLHL17	339451	broad.mit.edu	37	1	898614	898614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:898614C>T	ENST00000338591.3	+	7	1275	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	390	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGGGAACCGGCTCTATGC	0.687																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1168-1170)Cgg>Tgg		kelch-like family member 17							37.0	45.0	42.0					1																	898614		2189	4294	6483	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:898614C>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1168C>T	1.37:g.898614C>T	ENSP00000343930:p.Arg390Trp						p.R390W	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	1275	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	390			Interaction with F-actin (By similarity).		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.1168C>T	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616552	0.46736	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	T	0.78707	-1.2	5.52	2.37	0.29283	Galactose oxidase, beta-propeller (1);	0.531595	0.21391	N	0.075313	T	0.77552	0.4147	L	0.52573	1.65	0.47862	D	0.999538	D	0.65815	0.995	P	0.51266	0.664	T	0.75844	-0.3174	10	0.38643	T	0.18	.	13.5027	0.61467	0.6547:0.3453:0.0:0.0	.	390	Q6TDP4	KLH17_HUMAN	W	390;266;113	ENSP00000343930:R390W	ENSP00000343930:R390W	R	+	1	2	KLHL17	888477	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	4.169000	0.58223	0.665000	0.31066	0.448000	0.29417	CGG		0.687	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		9	10	0	0	0	1	0	9	10				
HIRIP3	8479	broad.mit.edu	37	16	30005816	30005816	+	Missense_Mutation	SNP	G	G	T	rs371999310		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30005816G>T	ENST00000279392.3	-	4	1480	c.650C>A	c.(649-651)aCt>aAt	p.T217N	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	217	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CAGGCTTTTAGTTCCTTTATT	0.507																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(649-651)aCt>aAt		HIRA interacting protein 3		G	ASN/THR	2,4392	4.2+/-10.8	0,2,2195	231.0	226.0	228.0		650	1.7	0.0	16		228	0,8600		0,0,4300	no	missense	HIRIP3	NM_003609.4	65	0,2,6495	TT,TG,GG		0.0,0.0455,0.0154	benign	217/557	30005816	2,12992	2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30005816G>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.650C>A	16.37:g.30005816G>T	ENSP00000279392:p.Thr217Asn					HIRIP3_ENST00000564026.1_Intron	p.T217N	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1480	-			217			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.650C>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472081	0.26423	4.55E-4	0.0	ENSG00000149929	ENST00000279392	T	0.28895	1.59	3.67	1.69	0.24217	.	1.460200	0.04362	N	0.357658	T	0.19765	0.0475	N	0.14661	0.345	0.09310	N	0.999991	B	0.32693	0.38	B	0.29440	0.102	T	0.28870	-1.0030	10	0.62326	D	0.03	4.3355	7.5306	0.27681	0.2196:0.0:0.7804:0.0	.	217	Q9BW71	HIRP3_HUMAN	N	217	ENSP00000279392:T217N	ENSP00000279392:T217N	T	-	2	0	HIRIP3	29913317	0.002000	0.14202	0.000000	0.03702	0.163000	0.22366	1.096000	0.30976	0.529000	0.28599	0.591000	0.81541	ACT		0.507	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		87	125	1	0	2.36867e-37	1	3.19063e-37	87	125				
DCST2	127579	broad.mit.edu	37	1	155003095	155003095	+	Missense_Mutation	SNP	G	G	A	rs377731845		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155003095G>A	ENST00000368424.3	-	6	890	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	DCST2_ENST00000295536.5_Missense_Mutation_p.R278C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	278						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACTCCTGACGCACCCGGTTG	0.617																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(832-834)Cgt>Tgt		DC-STAMP domain containing 2		G	CYS/ARG	0,4406		0,0,2203	68.0	48.0	55.0		832	4.6	0.9	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCST2	NM_144622.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	278/774	155003095	1,13005	2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155003095G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.832C>T	1.37:g.155003095G>A	ENSP00000357409:p.Arg278Cys					DCST2_ENST00000295536.5_Missense_Mutation_p.R278C	p.R278C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	890	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		278					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.832C>T	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754102	0.69648	0.0	1.16E-4	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.26067	1.76;1.81	4.56	4.56	0.56223	.	0.161111	0.35525	N	0.003149	T	0.21674	0.0522	L	0.32530	0.975	0.45621	D	0.998556	D	0.76494	0.999	P	0.53146	0.719	T	0.01500	-1.1339	10	0.72032	D	0.01	-13.4271	14.6832	0.69033	0.0:0.0:1.0:0.0	.	278	Q5T1A1	DCST2_HUMAN	C	278	ENSP00000357409:R278C;ENSP00000295536:R278C	ENSP00000295536:R278C	R	-	1	0	DCST2	153269719	1.000000	0.71417	0.935000	0.37517	0.630000	0.37929	4.253000	0.58791	2.531000	0.85337	0.655000	0.94253	CGT		0.617	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		10	37	0	0	0	1	0	10	37				
DPEP3	64180	broad.mit.edu	37	16	68011861	68011861	+	Missense_Mutation	SNP	C	C	T	rs371310931		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68011861C>T	ENST00000268793.4	-	5	1184	c.811G>A	c.(811-813)Gga>Aga	p.G271R	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	246					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTTGTCAATCCGCTGACGTTG	0.542																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(811-813)Gga>Aga		dipeptidase 3		C	ARG/GLY,ARG/GLY	0,4396		0,0,2198	224.0	148.0	174.0		811,811	3.2	0.7	16		174	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DPEP3	NM_001129758.1,NM_022357.3	125,125	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	271/513,271/514	68011861	1,12995	2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68011861C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.811G>A	16.37:g.68011861C>T	ENSP00000268793:p.Gly271Arg						p.G271R	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	5	1184	-		Ovarian(137;0.192)	246					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.811G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172220	0.38315	0.0	1.16E-4	ENSG00000141096	ENST00000268793	T	0.76578	-1.03	4.1	3.15	0.36227	.	0.176722	0.51477	D	0.000094	D	0.89962	0.6867	H	0.96398	3.815	0.40423	D	0.979862	D	0.89917	1.0	D	0.91635	0.999	D	0.89802	0.3976	10	0.87932	D	0	-0.5475	7.5934	0.28033	0.0:0.8835:0.0:0.1165	.	246	Q9H4B8	DPEP3_HUMAN	R	271	ENSP00000268793:G271R	ENSP00000268793:G271R	G	-	1	0	DPEP3	66569362	0.630000	0.27155	0.688000	0.30117	0.161000	0.22273	2.529000	0.45632	0.949000	0.37715	0.555000	0.69702	GGA		0.542	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		6	49	0	0	0	1	0	6	49				
FLT4	2324	broad.mit.edu	37	5	180035977	180035977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180035977C>T	ENST00000261937.6	-	29	3962	c.3884G>A	c.(3883-3885)aGc>aAc	p.S1295N	FLT4_ENST00000393347.3_Missense_Mutation_p.S1295N|FLT4_ENST00000502649.1_Missense_Mutation_p.S1295N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1295					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGAAGCCGCTTTCTTGTCT	0.602																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3883-3885)aGc>aAc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						260.0	198.0	219.0					5																	180035977		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180035977C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3884G>A	5.37:g.180035977C>T	ENSP00000261937:p.Ser1295Asn					FLT4_ENST00000393347.3_Missense_Mutation_p.S1295N|FLT4_ENST00000502649.1_Missense_Mutation_p.S1295N	p.S1295N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	29	3962	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1295					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3884G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	1.966	-0.437721	0.04636	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76709	-1.04;-1.01;-1.03	4.29	3.42	0.39159	.	.	.	.	.	T	0.58495	0.2126	N	0.08118	0	0.22305	N	0.999215	B;B	0.17038	0.02;0.005	B;B	0.20577	0.03;0.006	T	0.39375	-0.9617	9	0.15952	T	0.53	.	12.358	0.55186	0.0:0.9175:0.0:0.0824	.	1295;1295	E9PD35;P35916	.;VGFR3_HUMAN	N	1295	ENSP00000261937:S1295N;ENSP00000377016:S1295N;ENSP00000426057:S1295N	ENSP00000261937:S1295N	S	-	2	0	FLT4	179968583	0.819000	0.29175	0.004000	0.12327	0.011000	0.07611	2.730000	0.47335	1.157000	0.42530	0.561000	0.74099	AGC		0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			25	54	0	0	0	1	0	25	54				
TLR3	7098	broad.mit.edu	37	4	187005843	187005843	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005843T>C	ENST00000296795.3	+	5	2635	c.2531T>C	c.(2530-2532)cTg>cCg	p.L844P	TLR3_ENST00000504367.1_Missense_Mutation_p.L567P	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	844	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAACAAAATCTGGATTCCATT	0.338																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2530-2532)cTg>cCg		toll-like receptor 3							62.0	63.0	63.0					4																	187005843		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187005843T>C	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2531T>C	4.37:g.187005843T>C	ENSP00000296795:p.Leu844Pro					TLR3_ENST00000504367.1_Missense_Mutation_p.L567P	p.L844P	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	5	2635	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	844			TIR.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.2531T>C	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804929	0.70682	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.02498	4.27;4.27	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.054834	0.64402	D	0.000001	T	0.12732	0.0309	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.71656	0.974	T	0.00345	-1.1801	10	0.49607	T	0.09	.	11.9068	0.52717	0.0:0.0:0.2569:0.7431	.	844	O15455	TLR3_HUMAN	P	844;844;567	ENSP00000296795:L844P;ENSP00000423684:L567P	ENSP00000296795:L844P	L	+	2	0	TLR3	187242837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.303000	0.65738	2.299000	0.77371	0.528000	0.53228	CTG		0.338	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			27	21	0	0	0	1	0	27	21				
WRN	7486	broad.mit.edu	37	8	30922521	30922521	+	Missense_Mutation	SNP	G	G	A	rs61761625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30922521G>A	ENST00000298139.5	+	5	695	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	149	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAACTTCTACGTGACTTTGAT	0.308			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(445-447)cGt>cAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	101.0	111.0	108.0		446	2.1	1.0	8	dbSNP_129	108	1,8597	1.2+/-3.3	0,1,4298	yes	missense	WRN	NM_000553.4	29	0,3,6499	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	149/1433	30922521	3,13001	2203	4299	6502	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30922521G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.446G>A	8.37:g.30922521G>A	ENSP00000298139:p.Arg149His						p.R149H	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	5	695	+		Breast(100;0.195)	149			3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.446G>A	CCDS6082.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.04	3.534831	0.64972	4.54E-4	1.16E-4	ENSG00000165392	ENST00000298139	T	0.65916	-0.18	5.82	2.12	0.27331	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.397217	0.28187	N	0.016264	T	0.71065	0.3296	M	0.62154	1.92	0.27192	N	0.960398	D	0.89917	1.0	D	0.64321	0.924	T	0.64071	-0.6493	10	0.59425	D	0.04	-2.558	10.0714	0.42335	0.2708:0.0:0.7292:0.0	rs61761625	149	Q14191	WRN_HUMAN	H	149	ENSP00000298139:R149H	ENSP00000298139:R149H	R	+	2	0	WRN	31042063	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	2.805000	0.47939	0.112000	0.17975	-0.136000	0.14681	CGT		0.308	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			31	46	0	0	0	1	0	31	46				
LONP1	9361	broad.mit.edu	37	19	5700874	5700874	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700874G>T	ENST00000360614.3	-	9	1589	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	LONP1_ENST00000585374.1_Missense_Mutation_p.L364M|LONP1_ENST00000593119.1_Missense_Mutation_p.L414M|LONP1_ENST00000590729.1_Missense_Mutation_p.L348M|LONP1_ENST00000540670.2_Missense_Mutation_p.L282M	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCAGGTCCAGGTTCTCGTTG	0.602																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1432-1434)Ctg>Atg		lon peptidase 1, mitochondrial							221.0	150.0	174.0					19																	5700874		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5700874G>T	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1432C>A	19.37:g.5700874G>T	ENSP00000353826:p.Leu478Met					LONP1_ENST00000590729.1_Missense_Mutation_p.L348M|LONP1_ENST00000585374.1_Missense_Mutation_p.L364M|LONP1_ENST00000593119.1_Missense_Mutation_p.L414M|LONP1_ENST00000540670.2_Missense_Mutation_p.L282M	p.L478M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			9	1589	-			478						Missense_Mutation	SNP	ENST00000360614.3	37	c.1432C>A	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397813	0.42512	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.26810	1.71;1.71	4.57	1.22	0.21188	.	0.081158	0.49916	D	0.000132	T	0.47525	0.1450	M	0.86864	2.845	0.46701	D	0.999161	D;D;D	0.76494	0.988;0.999;0.988	D;D;D	0.65684	0.928;0.937;0.928	T	0.40850	-0.9541	10	0.66056	D	0.02	-23.3241	6.7635	0.23554	0.409:0.0:0.591:0.0	.	478;414;478	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	M	478;442;282	ENSP00000353826:L478M;ENSP00000441523:L282M	ENSP00000351177:L442M	L	-	1	2	LONP1	5651874	1.000000	0.71417	0.998000	0.56505	0.450000	0.32258	2.121000	0.41977	0.047000	0.15862	-0.224000	0.12420	CTG		0.602	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		10	96	1	0	7.48243e-07	1	8.70085e-07	10	96				
FLRT2	23768	broad.mit.edu	37	14	86088012	86088012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088012C>T	ENST00000330753.4	+	2	921	c.154C>T	c.(154-156)Cga>Tga	p.R52*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.R52*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	52	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGTAATGAGCGAAGCTTGAC	0.512																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(154-156)Cga>Tga		fibronectin leucine rich transmembrane protein 2							137.0	126.0	130.0					14																	86088012		2203	4300	6503	SO:0001587	stop_gained	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088012C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.154C>T	14.37:g.86088012C>T	ENSP00000332879:p.Arg52*					FLRT2_ENST00000554746.1_Nonsense_Mutation_p.R52*	p.R52*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	921	+			52			LRRNT.		A0AV84|B7ZLP3	Nonsense_Mutation	SNP	ENST00000330753.4	37	c.154C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	43	10.107794	0.99338	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	.	.	.	5.73	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9687	15.6816	0.77373	0.142:0.858:0.0:0.0	.	.	.	.	X	52	.	ENSP00000332879:R52X	R	+	1	2	FLRT2	85157765	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.398000	0.44486	1.363000	0.46019	0.655000	0.94253	CGA		0.512	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			46	62	0	0	0	1	0	46	62				
MED12	9968	broad.mit.edu	37	X	70339947	70339947	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70339947T>C	ENST00000374080.3	+	4	512	c.480T>C	c.(478-480)atT>atC	p.I160I	MED12_ENST00000333646.6_Silent_p.I160I|MED12_ENST00000374102.1_Silent_p.I160I			Q93074	MED12_HUMAN	mediator complex subunit 12	160					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTGGCTCATTAAGATGACCT	0.478			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(478-480)atT>atC		mediator complex subunit 12							117.0	112.0	114.0					X																	70339947		2035	4168	6203	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339947T>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.480T>C	X.37:g.70339947T>C						MED12_ENST00000374102.1_Silent_p.I160I|MED12_ENST00000374080.3_Silent_p.I160I	p.I160I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			4	679	+	Renal(35;0.156)		160					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.480T>C	CCDS43970.1																																																																																				0.478	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	83	0	0	0	1	0	7	83				
PDE4C	5143	broad.mit.edu	37	19	18329299	18329299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18329299G>T	ENST00000355502.3	-	14	1946	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Missense_Mutation_p.L359M|PDE4C_ENST00000539010.1_Missense_Mutation_p.L128M|PDE4C_ENST00000262805.12_Missense_Mutation_p.L327M|PDE4C_ENST00000447275.3_Missense_Mutation_p.L253M|PDE4C_ENST00000594465.3_Missense_Mutation_p.L359M|PDE4C_ENST00000597297.1_Missense_Mutation_p.L129M|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	359					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTCTTCAGCAGGTCCCGCTCC	0.582																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1075-1077)Ctg>Atg		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						126.0	124.0	125.0					19																	18329299		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18329299G>T		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1075C>A	19.37:g.18329299G>T	ENSP00000347689:p.Leu359Met					AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.L359M|PDE4C_ENST00000539010.1_Missense_Mutation_p.L128M|PDE4C_ENST00000447275.2_Missense_Mutation_p.L253M|PDE4C_ENST00000262805.11_Missense_Mutation_p.L327M|PDE4C_ENST00000594617.2_Missense_Mutation_p.L359M	p.L359M			Q08493	PDE4C_HUMAN			14	1946	-			359					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1075C>A	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395492	0.62066	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000539010;ENST00000543547	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.83	3.8	0.43715	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.64402	D	0.000003	D	0.86297	0.5899	M	0.89095	3.005	0.35157	D	0.770273	D;D;D	0.76494	0.999;0.995;0.973	D;D;P	0.75020	0.985;0.914;0.777	D	0.90331	0.4352	10	0.62326	D	0.03	.	10.4835	0.44708	0.0964:0.0:0.9036:0.0	.	359;327;165	Q08493;Q08493-3;O43850	PDE4C_HUMAN;.;.	M	438;359;347;327;253;165;128;468	ENSP00000347689:L359M;ENSP00000262805:L327M;ENSP00000402091:L253M;ENSP00000439470:L128M	ENSP00000262805:L327M	L	-	1	2	PDE4C	18190299	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.388000	0.66249	1.024000	0.39682	0.313000	0.20887	CTG		0.582	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			9	87	1	0	7.48243e-07	1	8.70085e-07	9	87				
TNC	3371	broad.mit.edu	37	9	117819616	117819616	+	Silent	SNP	G	G	A	rs539803972	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117819616G>A	ENST00000350763.4	-	15	4806	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F	TNC_ENST00000542877.1_Silent_p.F1101F|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000341037.4_Silent_p.F1374F|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Silent_p.F1101F|TNC_ENST00000340094.3_Silent_p.F1101F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1465	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TAAAGGTCTCGAAGATCCCAT	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		19237	0.001		0.0	False		,,,				2504	0.001					ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(4393-4395)ttC>ttT		tenascin C							154.0	167.0	162.0					9																	117819616		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117819616G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4395C>T	9.37:g.117819616G>A						TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Silent_p.F1101F|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Silent_p.F1101F|TNC_ENST00000341037.4_Silent_p.F1374F|TNC_ENST00000535648.1_Silent_p.F1101F	p.F1465F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			15	4806	-			1465			Fibronectin type-III 10.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.4395C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	9.443	1.088520	0.20390	.	.	ENSG00000041982	ENST00000544972	.	.	.	5.81	2.17	0.27698	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2132	0.43154	0.5176:0.0:0.4824:0.0	.	.	.	.	X	119	.	.	R	-	1	2	TNC	116859437	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.711000	0.37930	0.088000	0.17205	0.563000	0.77884	CGA		0.423	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		78	136	0	0	0	1	0	78	136				
NAV3	89795	broad.mit.edu	37	12	78513292	78513292	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513292T>C	ENST00000397909.2	+	15	3489	c.3316T>C	c.(3316-3318)Tca>Cca	p.S1106P	NAV3_ENST00000266692.7_Missense_Mutation_p.S1106P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1106P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1106P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1106	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCGGGAAGTCAAATGCAGG	0.478										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3316-3318)Tca>Cca		neuron navigator 3							66.0	69.0	68.0					12																	78513292		1967	4152	6119	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513292T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3316T>C	12.37:g.78513292T>C	ENSP00000381007:p.Ser1106Pro	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S1106P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1106P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1106P	p.S1106P			Q8IVL0	NAV3_HUMAN			15	3489	+			1106			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3316T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.43|12.43	1.936116|1.936116	0.34189|0.34189	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43|.	5.64|5.64	4.48|4.48	0.54585|0.54585	.|.	0.000000|.	0.36234|.	U|.	0.002703|.	T|T	0.36663|0.36663	0.0975|0.0975	N|N	0.11201|0.11201	0.11|0.11	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.76494|.	0.998;0.999;0.999;0.467|.	P;D;P;B|.	0.66979|.	0.852;0.948;0.869;0.133|.	T|T	0.13442|0.13442	-1.0509|-1.0509	10|5	0.12766|.	T|.	0.61|.	-6.1804|-6.1804	11.6774|11.6774	0.51438|0.51438	0.0:0.0:0.148:0.852|0.0:0.0:0.148:0.852	.|.	1106;1106;1106;1106|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	P|A	1106|177	ENSP00000446132:S1106P;ENSP00000381007:S1106P;ENSP00000228327:S1106P;ENSP00000266692:S1106P|.	ENSP00000228327:S1106P|.	S|V	+|+	1|2	0|0	NAV3|NAV3	77037423|77037423	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.926000|0.926000	0.56050|0.56050	1.709000|1.709000	0.37909|0.37909	0.929000|0.929000	0.37192|0.37192	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.478	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	45	0	0	0	1	0	6	45				
MTCH1	23787	broad.mit.edu	37	6	36949365	36949365	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949365G>A	ENST00000373627.5	-	2	529	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MTCH1_ENST00000373616.5_Splice_Site_p.Y135Y|MTCH1_ENST00000538808.1_Intron	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	135					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CACACTCACCGTAGGTGAAGA	0.592																																						ENST00000373627.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.e2+1		mitochondrial carrier 1							51.0	43.0	46.0					6																	36949365		2203	4300	6503	SO:0001630	splice_region_variant	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36949365G>A	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.406+1C>T	6.37:g.36949365G>A						MTCH1_ENST00000373616.5_Splice_Site_p.Y135_splice|MTCH1_ENST00000538808.1_Intron	p.Y135_splice	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN			2	529	-			135					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Splice_Site	SNP	ENST00000373627.5	37	c.406_splice																																																																																					0.592	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341	Silent	11	14	0	0	0	1	0	11	14				
ZNF121	7675	broad.mit.edu	37	19	9677073	9677073	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677073C>A	ENST00000586602.1	-	6	1132	c.716G>T	c.(715-717)aGg>aTg	p.R239M	ZNF121_ENST00000320451.6_Missense_Mutation_p.R239M			P58317	ZN121_HUMAN	zinc finger protein 121	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TAGATAAAACCTATTGTAGGC	0.428																																						ENST00000586602.1																			0				breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						c.(715-717)aGg>aTg		zinc finger protein 121							61.0	64.0	63.0					19																	9677073		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677073C>A	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.716G>T	19.37:g.9677073C>A	ENSP00000468643:p.Arg239Met					ZNF121_ENST00000320451.6_Missense_Mutation_p.R239M	p.R239M			P58317	ZN121_HUMAN			6	1132	-			239						Missense_Mutation	SNP	ENST00000586602.1	37	c.716G>T		.	.	.	.	.	.	.	.	.	.	C	3.040	-0.197759	0.06219	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.07216	3.21	1.3	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18635	0.0447	M	0.82923	2.615	0.09310	N	1	P	0.51653	0.947	P	0.54706	0.759	T	0.08785	-1.0705	9	0.62326	D	0.03	.	4.0226	0.09672	0.0:0.5765:0.2465:0.1769	.	239	P58317	ZN121_HUMAN	M	239	ENSP00000326967:R239M	ENSP00000326967:R239M	R	-	2	0	ZNF121	9538073	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.990000	0.00658	-0.244000	0.09639	-0.325000	0.08501	AGG		0.428	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		5	99	1	0	0.184627	1	0.186383	5	99				
MOGAT3	346606	broad.mit.edu	37	7	100839654	100839654	+	Missense_Mutation	SNP	C	C	T	rs151326500	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839654C>T	ENST00000223114.4	-	6	851	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000440203.2_Missense_Mutation_p.V229M	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	229					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGGAGTACACGGGCACCAGG	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		16283	0.0		0.0	False		,,,				2504	0.0031					ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(685-687)Gtg>Atg		monoacylglycerol O-acyltransferase 3		C	MET/VAL	0,4406		0,0,2203	33.0	35.0	34.0		685	1.0	0.0	7	dbSNP_134	34	6,8594		0,6,4294	yes	missense	MOGAT3	NM_178176.2	21	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	possibly-damaging	229/342	100839654	6,13000	2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839654C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.685G>A	7.37:g.100839654C>T	ENSP00000223114:p.Val229Met					MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000440203.2_Missense_Mutation_p.V229M	p.V229M	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			6	851	-	Lung NSC(181;0.168)|all_lung(186;0.215)		229					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.685G>A	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.856551	0.32791	0.0	6.98E-4	ENSG00000106384	ENST00000223114;ENST00000440203	D;T	0.95885	-3.84;2.32	4.83	1.0	0.19881	.	0.069642	0.56097	D	0.000021	D	0.95843	0.8647	M	0.80332	2.49	0.25562	N	0.986984	D	0.71674	0.998	P	0.55303	0.773	D	0.90811	0.4701	10	0.59425	D	0.04	-1.9265	8.0562	0.30606	0.0:0.6486:0.0:0.3514	.	229	Q86VF5	MOGT3_HUMAN	M	229	ENSP00000223114:V229M;ENSP00000403756:V229M	ENSP00000223114:V229M	V	-	1	0	MOGAT3	100626374	0.000000	0.05858	0.044000	0.18714	0.395000	0.30598	0.484000	0.22308	-0.103000	0.12175	-0.142000	0.14014	GTG		0.587	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		17	11	0	0	0	1	0	17	11				
MGAT4C	25834	broad.mit.edu	37	12	86377346	86377346	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86377346T>G	ENST00000604798.1	-	7	1454	c.250A>C	c.(250-252)Aat>Cat	p.N84H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.N113H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000552435.2_Missense_Mutation_p.N84H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	84					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGTGACATTTATGGCTCCT	0.328																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(250-252)Aat>Cat		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							127.0	132.0	130.0					12																	86377346		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86377346T>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.250A>C	12.37:g.86377346T>G	ENSP00000474896:p.Asn84His					MGAT4C_ENST00000548651.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.N113H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000552435.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.N84H	p.N84H			Q9UBM8	MGT4C_HUMAN			7	1454	-			84					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.250A>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907613	0.72868	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.44	5.44	0.79542	.	0.065845	0.64402	D	0.000008	T	0.58264	0.2110	L	0.49350	1.555	0.47308	D	0.999381	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.55829	-0.8079	10	0.37606	T	0.19	-9.5548	15.502	0.75705	0.0:0.0:0.0:1.0	.	113;84	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	84;113;84;84;84;84;84;84	ENSP00000331664:N84H;ENSP00000376900:N113H;ENSP00000449022:N84H;ENSP00000446647:N84H;ENSP00000447253:N84H;ENSP00000449172:N84H	ENSP00000331664:N84H	N	-	1	0	MGAT4C	84901477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.071000	0.62044	0.460000	0.39030	AAT		0.328	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		11	112	0	0	0	1	0	11	112				
LRP1B	53353	broad.mit.edu	37	2	141264418	141264418	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141264418A>G	ENST00000389484.3	-	53	9439	c.8468T>C	c.(8467-8469)gTt>gCt	p.V2823A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2823	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGTCACAAACAAATTGCTT	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8467-8469)gTt>gCt		low density lipoprotein receptor-related protein 1B							162.0	150.0	154.0					2																	141264418		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141264418A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8468T>C	2.37:g.141264418A>G	ENSP00000374135:p.Val2823Ala	TSP Lung(27;0.18)					p.V2823A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	53	9439	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2823			LDL-receptor class A 18.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8468T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.285415	0.59867	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.41400	1.0	5.65	5.65	0.86999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.078614	0.50627	D	0.000117	T	0.50854	0.1640	M	0.86953	2.85	0.43430	D	0.995597	B	0.15141	0.012	B	0.22152	0.038	T	0.51148	-0.8742	10	0.21540	T	0.41	.	15.882	0.79211	1.0:0.0:0.0:0.0	.	2823	Q9NZR2	LRP1B_HUMAN	A	2823;2761	ENSP00000374135:V2823A	ENSP00000374135:V2823A	V	-	2	0	LRP1B	140980888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.155000	0.67459	0.533000	0.62120	GTT		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	148	0	0	0	1	0	8	148				
LRP2	4036	broad.mit.edu	37	2	170062575	170062575	+	Missense_Mutation	SNP	C	C	T	rs371708810		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170062575C>T	ENST00000263816.3	-	40	7799	c.7514G>A	c.(7513-7515)cGc>cAc	p.R2505H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTTGGAACGCGGGCTATCAC	0.428																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7513-7515)cGc>cAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	153.0	147.0	149.0		7514	2.1	0.1	2		149	0,8600		0,0,4300	no	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2505/4656	170062575	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062575C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7514G>A	2.37:g.170062575C>T	ENSP00000263816:p.Arg2505His						p.R2505H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7799	-			2505					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7514G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713676	0.30413	2.27E-4	0.0	ENSG00000081479	ENST00000263816	D	0.93712	-3.27	6.17	2.1	0.27182	Six-bladed beta-propeller, TolB-like (1);	0.296236	0.43260	N	0.000584	D	0.86142	0.5862	N	0.16233	0.39	0.80722	D	1	B	0.16396	0.017	B	0.04013	0.001	T	0.75929	-0.3144	10	0.34782	T	0.22	.	13.6436	0.62267	0.0:0.9031:0.0:0.0969	.	2505	P98164	LRP2_HUMAN	H	2505	ENSP00000263816:R2505H	ENSP00000263816:R2505H	R	-	2	0	LRP2	169770821	0.064000	0.20934	0.146000	0.22360	0.863000	0.49368	0.485000	0.22324	0.082000	0.17018	0.655000	0.94253	CGC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		38	53	0	0	0	1	0	38	53				
CUL4B	8450	broad.mit.edu	37	X	119672534	119672534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119672534C>T	ENST00000404115.3	-	15	2288	c.1887G>A	c.(1885-1887)atG>atA	p.M629I	CUL4B_ENST00000371322.5_Missense_Mutation_p.M611I|CUL4B_ENST00000336592.6_Missense_Mutation_p.M616I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	629					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTGGACAGCATTGATTTTT	0.378																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1831-1833)atG>atA		cullin 4B							117.0	114.0	115.0					X																	119672534		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119672534C>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1887G>A	X.37:g.119672534C>T	ENSP00000384109:p.Met629Ile					CUL4B_ENST00000404115.3_Missense_Mutation_p.M629I|CUL4B_ENST00000336592.6_Missense_Mutation_p.M616I	p.M611I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			13	1894	-			629					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1833G>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065639	0.76187	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.74737	-0.87;-0.87;-0.87	5.51	5.51	0.81932	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.86764	0.6011	M	0.80616	2.505	0.80722	D	1	P;D;D	0.89917	0.85;1.0;1.0	P;D;D	0.91635	0.74;0.999;0.999	D	0.87399	0.2368	9	.	.	.	-12.9049	16.9276	0.86180	0.0:1.0:0.0:0.0	.	433;629;611	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	611;616;629	ENSP00000360373:M611I;ENSP00000338919:M616I;ENSP00000384109:M629I	.	M	-	3	0	CUL4B	119556562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.056000	0.71111	2.315000	0.78130	0.594000	0.82650	ATG		0.378	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		12	130	0	0	0	1	0	12	130				
NUTM2F	54754	broad.mit.edu	37	9	97082793	97082793	+	Missense_Mutation	SNP	C	C	A	rs577940402		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97082793C>A	ENST00000253262.4	-	5	1085	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	NUTM2F_ENST00000341207.4_Missense_Mutation_p.K355N|NUTM2F_ENST00000335456.7_Missense_Mutation_p.K355N	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	355	Pro-rich.							p.K236N(5)									GCAGGTGGGCCTTGGTCTCCG	0.706																																						ENST00000335456.7																			5	Substitution - Missense(5)	p.K236N(5)	large_intestine(5)								c.(1063-1065)aaG>aaT		NUT family member 2F							17.0	24.0	21.0					9																	97082793		1985	4123	6108	SO:0001583	missense	54754							g.chr9:97082793C>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1065G>T	9.37:g.97082793C>A	ENSP00000253262:p.Lys355Asn					NUTM2F_ENST00000253262.4_Missense_Mutation_p.K355N|NUTM2F_ENST00000341207.4_Missense_Mutation_p.K355N	p.K355N							5	1085	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.1065G>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.538749	0.27475	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.24151	1.87;2.67;2.67	0.1	0.1	0.14510	.	.	.	.	.	T	0.30070	0.0753	N	0.24115	0.695	0.09310	N	1	D	0.57899	0.981	D	0.69824	0.966	T	0.14062	-1.0486	9	0.62326	D	0.03	.	5.97	0.19346	0.0:0.9994:0.0:6.0E-4	.	355	A1L443	FA22F_HUMAN	N	355	ENSP00000335067:K355N;ENSP00000253262:K355N;ENSP00000343865:K355N	ENSP00000253262:K355N	K	-	3	2	FAM22F	96122614	0.001000	0.12720	0.113000	0.21522	0.093000	0.18481	0.349000	0.20055	0.170000	0.19704	0.173000	0.16961	AAG		0.706	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		9	16	1	0	2.31682e-05	1	2.60394e-05	9	16				
CEP85	64793	broad.mit.edu	37	1	26582026	26582026	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26582026G>A	ENST00000252992.4	+	4	704	c.573G>A	c.(571-573)tcG>tcA	p.S191S	CEP85_ENST00000451429.2_Silent_p.S140S	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	191						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCAATCAGTCGGCAATGATGG	0.488																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(571-573)tcG>tcA		centrosomal protein 85kDa							104.0	97.0	99.0					1																	26582026		2203	4300	6503	SO:0001819	synonymous_variant	64793					centrosome|nucleolus|spindle pole		g.chr1:26582026G>A	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.573G>A	1.37:g.26582026G>A						CEP85_ENST00000451429.2_Silent_p.S140S	p.S191S	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			4	704	+			191					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	c.573G>A	CCDS277.1																																																																																				0.488	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		28	47	0	0	0	1	0	28	47				
LPIN2	9663	broad.mit.edu	37	18	2920358	2920358	+	Missense_Mutation	SNP	G	G	A	rs367929381		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2920358G>A	ENST00000261596.4	-	20	2862	c.2624C>T	c.(2623-2625)cCg>cTg	p.P875L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	875					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTGAACTCCGGGCAGGGAAA	0.577																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2623-2625)cCg>cTg		lipin 2							55.0	50.0	51.0					18																	2920358		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2920358G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2624C>T	18.37:g.2920358G>A	ENSP00000261596:p.Pro875Leu						p.P875L	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	20	2862	-			875					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2624C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945180	0.92593	.	.	ENSG00000101577	ENST00000261596	T	0.80824	-1.42	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90971	0.4820	10	0.49607	T	0.09	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	875	Q92539	LPIN2_HUMAN	L	875	ENSP00000261596:P875L	ENSP00000261596:P875L	P	-	2	0	LPIN2	2910358	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	9.358000	0.97109	2.804000	0.96469	0.655000	0.94253	CCG		0.577	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		3	33	0	0	0	1	0	3	33				
PTPRB	5787	broad.mit.edu	37	12	70989893	70989893	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70989893A>G	ENST00000261266.5	-	3	569	c.540T>C	c.(538-540)aaT>aaC	p.N180N	PTPRB_ENST00000538708.1_Silent_p.N180N|PTPRB_ENST00000551525.1_Silent_p.N397N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.N398N|PTPRB_ENST00000550857.1_Silent_p.N180N|PTPRB_ENST00000334414.6_Silent_p.N398N|PTPRB_ENST00000451516.2_Silent_p.N180N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	180	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATGGCAATATTGTATTTAC	0.333																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1192-1194)aaT>aaC		protein tyrosine phosphatase, receptor type, B							67.0	64.0	65.0					12																	70989893		1843	4088	5931	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70989893A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.540T>C	12.37:g.70989893A>G						PTPRB_ENST00000538708.1_Silent_p.N180N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.N397N|PTPRB_ENST00000550857.1_Silent_p.N180N|PTPRB_ENST00000550358.1_Silent_p.N398N|PTPRB_ENST00000261266.5_Silent_p.N180N|PTPRB_ENST00000451516.2_Silent_p.N180N	p.N398N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		5	1238	-	Renal(347;0.236)		180			Fibronectin type-III 5.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1194T>C	CCDS44944.1																																																																																				0.333	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			10	39	0	0	0	1	0	10	39				
PM20D2	135293	broad.mit.edu	37	6	89859062	89859062	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89859062C>A	ENST00000275072.4	+	2	639	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	182						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTTTACAAATCTTGATGTTGT	0.403																																						ENST00000275072.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12						c.(544-546)Ctt>Att		peptidase M20 domain containing 2							161.0	159.0	160.0					6																	89859062		2203	4300	6503	SO:0001583	missense	135293						hydrolase activity	g.chr6:89859062C>A	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.544C>A	6.37:g.89859062C>A	ENSP00000275072:p.Leu182Ile						p.L182I	NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	2	639	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	182					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.544C>A	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	C	3.275	-0.148336	0.06627	.	.	ENSG00000146281	ENST00000275072	T	0.40756	1.02	5.87	5.87	0.94306	.	0.292105	0.33813	N	0.004540	T	0.09642	0.0237	N	0.05124	-0.11	0.32065	N	0.595227	B	0.10296	0.003	B	0.16289	0.015	T	0.06534	-1.0821	10	0.09338	T	0.73	-11.5909	14.9754	0.71267	0.1427:0.8572:0.0:0.0	.	182	Q8IYS1	P20D2_HUMAN	I	182	ENSP00000275072:L182I	ENSP00000275072:L182I	L	+	1	0	PM20D2	89915781	0.719000	0.27986	1.000000	0.80357	0.924000	0.55760	0.431000	0.21444	2.941000	0.99782	0.655000	0.94253	CTT		0.403	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		16	139	1	0	2.23348e-06	1	2.57349e-06	16	139				
ANKHD1	54882	broad.mit.edu	37	5	139887505	139887505	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139887505C>A	ENST00000360839.2	+	20	3841	c.3687C>A	c.(3685-3687)acC>acA	p.T1229T	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T1229T|ANKHD1_ENST00000297183.6_Silent_p.T1229T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1229						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCTCACCCTGGCCTGTT	0.463																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(3685-3687)acC>acA		ankyrin repeat and KH domain containing 1							96.0	90.0	92.0					5																	139887505		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139887505C>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3687C>A	5.37:g.139887505C>A						ANKHD1_ENST00000360839.2_Silent_p.T1229T|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T1229T	p.T1229T	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	3811	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.3687C>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	9.795	1.179089	0.21787	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.69	1.85	0.25348	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22906	-1.0203	4	.	.	.	.	1.4516	0.02376	0.226:0.4224:0.1101:0.2416	.	.	.	.	H	455	.	.	P	+	2	0	ANKHD1	139867689	0.000000	0.05858	0.997000	0.53966	0.995000	0.86356	-1.155000	0.03163	0.117000	0.18138	0.650000	0.86243	CCC		0.463	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	61	1	0	0.27861	1	0.279982	7	61				
CD93	22918	broad.mit.edu	37	20	23065850	23065850	+	Missense_Mutation	SNP	G	G	A	rs144280933		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065850G>A	ENST00000246006.4	-	1	1127	c.980C>T	c.(979-981)aCg>aTg	p.T327M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	327	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCGGCACGTGTAGTTTTT	0.627																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(979-981)aCg>aTg		CD93 molecule		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	33.0	36.0	35.0		980	-6.5	0.0	20	dbSNP_134	35	0,8600		0,0,4300	no	missense	CD93	NM_012072.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	327/653	23065850	2,13004	2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065850G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.980C>T	20.37:g.23065850G>A	ENSP00000246006:p.Thr327Met						p.T327M	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1127	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		327			EGF-like 2.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.980C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615941	0.28801	4.54E-4	0.0	ENSG00000125810	ENST00000246006	D	0.96265	-3.96	5.42	-6.54	0.01860	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.966570	0.02395	N	0.080068	D	0.90584	0.7048	L	0.46157	1.445	0.09310	N	1	B	0.31581	0.329	B	0.22386	0.039	T	0.81486	-0.0911	10	0.31617	T	0.26	0.3555	0.1939	0.00137	0.3007:0.1484:0.233:0.3178	.	327	Q9NPY3	C1QR1_HUMAN	M	327	ENSP00000246006:T327M	ENSP00000246006:T327M	T	-	2	0	CD93	23013850	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.031000	0.12287	-0.738000	0.04817	-0.142000	0.14014	ACG		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		4	33	0	0	0	1	0	4	33				
THOC2	57187	broad.mit.edu	37	X	122765688	122765688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122765688C>T	ENST00000245838.8	-	22	2363	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	THOC2_ENST00000355725.4_Missense_Mutation_p.V778M|THOC2_ENST00000491737.1_Missense_Mutation_p.V663M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	778					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAAACTGCACCAGGGTATCA	0.313																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(2332-2334)Gtg>Atg		THO complex 2							133.0	124.0	127.0					X																	122765688		1829	4081	5910	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122765688C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2332G>A	X.37:g.122765688C>T	ENSP00000245838:p.Val778Met					THOC2_ENST00000491737.1_Missense_Mutation_p.V663M|THOC2_ENST00000355725.4_Missense_Mutation_p.V778M	p.V778M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			22	2363	-			778					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2332G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701248	0.88924	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000013	T	0.79839	0.4515	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.984	T	0.79135	-0.1928	9	0.46703	T	0.11	-13.7945	19.3529	0.94398	0.0:1.0:0.0:0.0	.	703;778	B4DKZ6;Q8NI27	.;THOC2_HUMAN	M	778;778;663;703	.	ENSP00000245838:V778M	V	-	1	0	THOC2	122593369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.802000	0.85969	2.523000	0.85059	0.594000	0.82650	GTG		0.313	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			60	113	0	0	0	1	0	60	113				
NRP2	8828	broad.mit.edu	37	2	206659519	206659519	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206659519T>A	ENST00000357785.5	+	17	2549	c.2518T>A	c.(2518-2520)Tca>Aca	p.S840T	NRP2_ENST00000360409.3_Missense_Mutation_p.S845T|NRP2_ENST00000540178.1_Missense_Mutation_p.S840T|NRP2_ENST00000540841.1_Missense_Mutation_p.S823T|NRP2_ENST00000412873.2_Missense_Mutation_p.S823T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTCTGCAACCTCAGGGTCTGG	0.527																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2533-2535)Tca>Aca		neuropilin 2							86.0	82.0	83.0					2																	206659519		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659519T>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2518T>A	2.37:g.206659519T>A	ENSP00000350432:p.Ser840Thr					NRP2_ENST00000357785.5_Missense_Mutation_p.S840T|NRP2_ENST00000540841.1_Missense_Mutation_p.S823T|NRP2_ENST00000412873.2_Missense_Mutation_p.S823T|NRP2_ENST00000540178.1_Missense_Mutation_p.S840T	p.S845T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			17	3324	+			845					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2533T>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	T	3.037	-0.198363	0.06219	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.87491	-2.16;-2.19;-2.21;-2.25;-2.26	5.93	4.74	0.60224	.	0.392449	0.25307	N	0.031601	T	0.72827	0.3509	N	0.08118	0	0.36150	D	0.847412	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.72268	-0.4343	10	0.42905	T	0.14	-11.8272	8.7545	0.34637	0.373:0.0:0.0:0.627	.	823;840;845	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	T	845;840;823;840;823	ENSP00000353582:S845T;ENSP00000439658:S840T;ENSP00000439261:S823T;ENSP00000350432:S840T;ENSP00000407626:S823T	ENSP00000350432:S840T	S	+	1	0	NRP2	206367764	0.999000	0.42202	0.995000	0.50966	0.017000	0.09413	2.177000	0.42509	2.281000	0.76405	0.533000	0.62120	TCA		0.527	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			5	73	0	0	0	1	0	5	73				
PSMD9	5715	broad.mit.edu	37	12	122337707	122337707	+	Missense_Mutation	SNP	G	G	A	rs376571677		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122337707G>A	ENST00000541212.1	+	3	535	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	PSMD9_ENST00000261817.2_Missense_Mutation_p.A137T|PSMD9_ENST00000340175.5_Missense_Mutation_p.A137T|RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000542602.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	137	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ACGGGCCTTCGCCAAAGTGAA	0.642																																						ENST00000544724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(142-144)Gcc>Acc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 9		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	44.0	48.0	47.0		409	4.9	1.0	12		47	0,8600		0,0,4300	no	missense	PSMD9	NM_002813.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	137/224	122337707	1,13005	2203	4300	6503	SO:0001583	missense	5715				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity	g.chr12:122337707G>A	AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.409G>A	12.37:g.122337707G>A	ENSP00000440485:p.Ala137Thr					PSMD9_ENST00000340175.5_Missense_Mutation_p.A137T|PSMD9_ENST00000261817.2_Missense_Mutation_p.A137T|RP11-87C12.2_ENST00000542602.1_Intron|PSMD9_ENST00000541212.1_Missense_Mutation_p.A137T	p.A48T			O00233	PSMD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)	1	2531	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		137					B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	ENST00000541212.1	37	c.142G>A	CCDS9225.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169374	0.94768	2.27E-4	0.0	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000544724	T;T;T;T;T	0.28666	2.34;2.34;1.6;2.34;2.34	5.78	4.89	0.63831	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70375	-0.4889	10	0.66056	D	0.02	-25.8089	14.8081	0.69974	0.0688:0.0:0.9312:0.0	.	137;137	F8W7V8;O00233	.;PSMD9_HUMAN	T	137;137;137;137;48	ENSP00000440485:A137T;ENSP00000340847:A137T;ENSP00000261817:A137T;ENSP00000443081:A137T;ENSP00000443929:A48T	ENSP00000261817:A137T	A	+	1	0	PSMD9	120822090	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	8.599000	0.90856	1.447000	0.47661	0.563000	0.77884	GCC		0.642	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401686.1	NM_002813		10	26	0	0	0	1	0	10	26				
SOCS4	122809	broad.mit.edu	37	14	55511019	55511019	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55511019G>T	ENST00000395472.2	+	2	1592	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	SOCS4_ENST00000555846.1_Missense_Mutation_p.K420N|SOCS4_ENST00000339298.2_Missense_Mutation_p.K420N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	420	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TATATCTGAAGGAATATCATT	0.348																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(1258-1260)aaG>aaT		suppressor of cytokine signaling 4							44.0	44.0	44.0					14																	55511019		2201	4296	6497	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55511019G>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1260G>T	14.37:g.55511019G>T	ENSP00000378855:p.Lys420Asn					SOCS4_ENST00000339298.2_Missense_Mutation_p.K420N|SOCS4_ENST00000555846.1_Missense_Mutation_p.K420N	p.K420N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1592	+			420			SOCS box.			Missense_Mutation	SNP	ENST00000395472.2	37	c.1260G>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802656	0.50315	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.47177	0.85;0.85;0.85	5.49	2.64	0.31445	SOCS protein, C-terminal (4);	0.065003	0.56097	N	0.000022	T	0.63189	0.2490	M	0.68593	2.085	0.53688	D	0.999972	D	0.89917	1.0	D	0.80764	0.994	T	0.63292	-0.6670	10	0.46703	T	0.11	-17.7734	12.0146	0.53307	0.2237:0.0:0.7763:0.0	.	420	Q8WXH5	SOCS4_HUMAN	N	420	ENSP00000378855:K420N;ENSP00000452522:K420N;ENSP00000341327:K420N	ENSP00000341327:K420N	K	+	3	2	SOCS4	54580772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.376000	0.34306	0.795000	0.33922	0.655000	0.94253	AAG		0.348	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			8	39	1	0	1.06961e-07	1	1.26574e-07	8	39				
ABCA9	10350	broad.mit.edu	37	17	66982385	66982385	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66982385G>A	ENST00000340001.4	-	32	4339	c.4128C>T	c.(4126-4128)aaC>aaT	p.N1376N	ABCA9_ENST00000370732.2_Silent_p.N1376N|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Silent_p.N1338N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1376	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCACTGTCAGGTTGGGCCACA	0.577																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4126-4128)aaC>aaT		ATP-binding cassette, sub-family A (ABC1), member 9							133.0	108.0	116.0					17																	66982385		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982385G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4128C>T	17.37:g.66982385G>A						ABCA9_ENST00000453985.2_Silent_p.N1338N|ABCA9_ENST00000370732.2_Silent_p.N1376N	p.N1376N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4339	-	Breast(10;1.47e-12)		1376			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4128C>T	CCDS11681.1																																																																																				0.577	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		26	42	0	0	0	1	0	26	42				
DSCAM	1826	broad.mit.edu	37	21	41452189	41452189	+	Missense_Mutation	SNP	C	C	T	rs534405933		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41452189C>T	ENST00000400454.1	-	25	4787	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1437	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTTCCAAGCGATAGGAACG	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18520	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4309-4311)cGc>cAc		Down syndrome cell adhesion molecule							123.0	115.0	117.0					21																	41452189		1862	4108	5970	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41452189C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4310G>A	21.37:g.41452189C>T	ENSP00000383303:p.Arg1437His						p.R1437H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			25	4787	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1437			Fibronectin type-III 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4310G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492938	0.64074	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56776	0.44;0.44	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.32530	0.975	0.41902	D	0.990423	D	0.89917	1.0	D	0.87578	0.998	T	0.64702	-0.6345	10	0.46703	T	0.11	.	17.9266	0.88985	0.0:1.0:0.0:0.0	.	1437	O60469	DSCAM_HUMAN	H	1437;1189	ENSP00000383303:R1437H;ENSP00000385342:R1189H	ENSP00000383303:R1437H	R	-	2	0	DSCAM	40374059	1.000000	0.71417	0.999000	0.59377	0.437000	0.31866	4.801000	0.62532	2.454000	0.82982	0.563000	0.77884	CGC		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		32	64	0	0	0	1	0	32	64				
TXNDC16	57544	broad.mit.edu	37	14	52922169	52922169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922169T>C	ENST00000281741.4	-	18	2086	c.1715A>G	c.(1714-1716)tAt>tGt	p.Y572C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	572					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACTTGCAGCATATTTGGTTGA	0.433																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1714-1716)tAt>tGt		thioredoxin domain containing 16							180.0	150.0	160.0					14																	52922169		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52922169T>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1715A>G	14.37:g.52922169T>C	ENSP00000281741:p.Tyr572Cys					TXNDC16_ENST00000554399.1_Intron	p.Y572C	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			18	2086	-	Breast(41;0.0716)		572					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1715A>G	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454659	0.63290	.	.	ENSG00000087301	ENST00000281741	T	0.34072	1.38	4.98	4.98	0.66077	.	0.131269	0.53938	D	0.000058	T	0.56124	0.1964	M	0.69823	2.125	0.47778	D	0.999519	D;D	0.71674	0.997;0.998	P;D	0.65573	0.905;0.936	T	0.60919	-0.7167	10	0.87932	D	0	-40.4968	12.3353	0.55062	0.0:0.0:0.0:1.0	.	567;572	B7ZME4;Q9P2K2	.;TXD16_HUMAN	C	572	ENSP00000281741:Y572C	ENSP00000281741:Y572C	Y	-	2	0	TXNDC16	51991919	1.000000	0.71417	0.976000	0.42696	0.836000	0.47400	4.081000	0.57627	1.997000	0.58415	0.460000	0.39030	TAT		0.433	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		24	54	0	0	0	1	0	24	54				
MYO9A	4649	broad.mit.edu	37	15	72338703	72338703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72338703C>A	ENST00000356056.5	-	2	674	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.E68*|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.E68*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	68	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACCAAATTCCTTTACCTCT	0.423																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(202-204)Gaa>Taa		myosin IXA							95.0	93.0	94.0					15																	72338703		2199	4297	6496	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338703C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.202G>T	15.37:g.72338703C>A	ENSP00000348349:p.Glu68*					MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.E68*	p.E68*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	674	-			68			Ras-associating.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.202G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	38	7.218559	0.98143	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.6761	0.91529	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000261864:E68X	E	-	1	0	MYO9A	70125757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.741000	0.84997	2.502000	0.84385	0.454000	0.30748	GAA		0.423	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		30	46	1	0	1.75199e-13	1	2.22232e-13	30	46				
LRIG1	26018	broad.mit.edu	37	3	66502059	66502059	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66502059T>C	ENST00000273261.3	-	3	815		c.e3-2		LRIG1_ENST00000383703.3_Splice_Site	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGAGGTACCTGTAACAACAA	0.418																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.e3-2		leucine-rich repeats and immunoglobulin-like domains 1							138.0	124.0	129.0					3																	66502059		2203	4300	6503	SO:0001630	splice_region_variant	26018					integral to membrane		g.chr3:66502059T>C	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.291-2A>G	3.37:g.66502059T>C						LRIG1_ENST00000273261.3_Splice_Site				Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	3	894	-		Lung NSC(201;0.0101)						Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Splice_Site	SNP	ENST00000273261.3	37		CCDS33783.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814158	0.70912	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7354	0.57220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRIG1	66584749	1.000000	0.71417	0.994000	0.49952	0.924000	0.55760	4.214000	0.58527	2.269000	0.75478	0.533000	0.62120	.		0.418	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	Intron	5	79	0	0	0	1	0	5	79				
SYNE2	23224	broad.mit.edu	37	14	64497763	64497763	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64497763T>C	ENST00000344113.4	+	45	7121	c.6909T>C	c.(6907-6909)gaT>gaC	p.D2303D	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.D2303D|SYNE2_ENST00000554584.1_Silent_p.D2303D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2303					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTACAAGATGGCACATTAA	0.328																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6907-6909)gaT>gaC		spectrin repeat containing, nuclear envelope 2							84.0	82.0	82.0					14																	64497763		1817	4083	5900	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64497763T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6909T>C	14.37:g.64497763T>C						SYNE2_ENST00000344113.4_Silent_p.D2303D|SYNE2_ENST00000554584.1_Silent_p.D2303D|SYNE2_ENST00000357395.3_5'UTR	p.D2303D	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	45	7139	+			2303					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6909T>C	CCDS41963.1																																																																																				0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		15	62	0	0	0	1	0	15	62				
PKD2L2	27039	broad.mit.edu	37	5	137242000	137242000	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137242000C>A	ENST00000508883.1	+	6	878	c.852C>A	c.(850-852)tcC>tcA	p.S284S	PKD2L2_ENST00000508638.1_Silent_p.S284S|PKD2L2_ENST00000350250.4_Silent_p.S250S|PKD2L2_ENST00000502810.1_Silent_p.S284S|PKD2L2_ENST00000290431.5_Silent_p.S284S			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	284					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTATTGCTTCCTGTGAAATCA	0.338																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(850-852)tcC>tcA		polycystic kidney disease 2-like 2							130.0	118.0	122.0					5																	137242000		1815	4080	5895	SO:0001819	synonymous_variant	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137242000C>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.852C>A	5.37:g.137242000C>A						PKD2L2_ENST00000290431.5_Silent_p.S284S|PKD2L2_ENST00000508883.1_Silent_p.S284S|PKD2L2_ENST00000350250.4_Silent_p.S250S|PKD2L2_ENST00000502810.1_Silent_p.S284S	p.S284S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	907	+			284					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37	c.852C>A																																																																																					0.338	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		31	61	1	0	2.65835e-16	1	3.4289e-16	31	61				
FAT4	79633	broad.mit.edu	37	4	126337709	126337709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337709G>A	ENST00000394329.3	+	6	6963	c.6950G>A	c.(6949-6951)gGa>gAa	p.G2317E	FAT4_ENST00000335110.5_Missense_Mutation_p.G615E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2317	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6949-6951)gGa>gAa		FAT atypical cadherin 4							261.0	250.0	254.0					4																	126337709		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337709G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6950G>A	4.37:g.126337709G>A	ENSP00000377862:p.Gly2317Glu					FAT4_ENST00000335110.5_Missense_Mutation_p.G615E	p.G2317E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6963	+			2317			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6950G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	6.864	0.528780	0.13127	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01725	4.67;4.67	5.22	-1.67	0.08238	Cadherin (4);Cadherin-like (1);	0.275203	0.18618	U	0.135948	T	0.00906	0.0030	N	0.02315	-0.6	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.47195	-0.9136	10	0.30078	T	0.28	.	12.4622	0.55738	0.5034:0.0:0.4966:0.0	.	615;2317	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	E	2317;615	ENSP00000377862:G2317E;ENSP00000335169:G615E	ENSP00000335169:G615E	G	+	2	0	FAT4	126557159	0.004000	0.15560	0.192000	0.23308	0.555000	0.35460	0.209000	0.17435	-0.291000	0.09012	-0.262000	0.10625	GGA		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		73	123	0	0	0	1	0	73	123				
OR10G7	390265	broad.mit.edu	37	11	123909476	123909476	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123909476T>C	ENST00000330487.5	-	1	241	c.233A>G	c.(232-234)aAa>aGa	p.K78R		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATCAGCATTTTGGGCACCGT	0.542																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(232-234)aAa>aGa		olfactory receptor, family 10, subfamily G, member 7							125.0	135.0	132.0					11																	123909476		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909476T>C	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.233A>G	11.37:g.123909476T>C	ENSP00000329689:p.Lys78Arg						p.K78R	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	241	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	78					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.233A>G	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.535859	0.45176	.	.	ENSG00000182634	ENST00000330487	D	0.85556	-2.0	3.39	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.143533	0.32134	N	0.006528	D	0.82600	0.5072	N	0.12527	0.23	0.24946	N	0.991821	D	0.76494	0.999	D	0.87578	0.998	T	0.73691	-0.3903	10	0.40728	T	0.16	.	9.6162	0.39692	0.0:0.0:0.1765:0.8235	.	78	Q8NGN6	O10G7_HUMAN	R	78	ENSP00000329689:K78R	ENSP00000329689:K78R	K	-	2	0	OR10G7	123414686	0.001000	0.12720	1.000000	0.80357	0.902000	0.53008	0.381000	0.20619	0.486000	0.27676	0.374000	0.22700	AAA		0.542	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		5	120	0	0	0	1	0	5	120				
ZNF16	7564	broad.mit.edu	37	8	146157522	146157522	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146157522G>T	ENST00000276816.4	-	4	837	c.651C>A	c.(649-651)acC>acA	p.T217T	ZNF16_ENST00000394909.2_Silent_p.T217T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	217					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTCCTTGGAAGGTTTTCCCAC	0.488																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(649-651)acC>acA		zinc finger protein 16							104.0	106.0	105.0					8																	146157522		2203	4300	6503	SO:0001819	synonymous_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157522G>T	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.651C>A	8.37:g.146157522G>T						ZNF16_ENST00000394909.2_Silent_p.T217T	p.T217T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	837	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	217					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	c.651C>A	CCDS6437.1																																																																																				0.488	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		19	132	1	0	5.03518e-11	1	6.25324e-11	19	132				
CFHR5	81494	broad.mit.edu	37	1	196952198	196952198	+	Missense_Mutation	SNP	C	C	T	rs544857720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196952198C>T	ENST00000256785.4	+	2	351	c.242C>T	c.(241-243)cCg>cTg	p.P81L	CFHR5_ENST00000367414.5_Missense_Mutation_p.P105L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	81	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCACCAACACCGAAGTGTCTC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		18564	0.001		0.0	False		,,,				2504	0.0					ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(313-315)cCg>cTg		complement factor H-related 5							114.0	98.0	103.0					1																	196952198		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952198C>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.242C>T	1.37:g.196952198C>T	ENSP00000256785:p.Pro81Leu					CFHR5_ENST00000256785.4_Missense_Mutation_p.P81L	p.P105L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			2	370	+			81			Sushi 2.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.314C>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.160904	0.57368	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.77358	-1.09;-1.09	2.45	2.45	0.29901	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.75525	0.3861	M	0.80616	2.505	0.18873	N	0.999988	P	0.42248	0.774	B	0.37508	0.252	T	0.70189	-0.4940	9	0.87932	D	0	.	8.4585	0.32915	0.0:1.0:0.0:0.0	.	81	Q9BXR6	FHR5_HUMAN	L	105;81	ENSP00000356384:P105L;ENSP00000256785:P81L	ENSP00000256785:P81L	P	+	2	0	CFHR5	195218821	0.000000	0.05858	0.096000	0.21009	0.500000	0.33767	0.186000	0.16978	1.679000	0.50963	0.305000	0.20034	CCG		0.403	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		6	66	0	0	0	1	0	6	66				
LAMA5	3911	broad.mit.edu	37	20	60907503	60907503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60907503C>A	ENST00000252999.3	-	28	3543	c.3477G>T	c.(3475-3477)caG>caT	p.Q1159H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1159	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCAGGTGGTCCTGGGTATCCC	0.697																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(3475-3477)caG>caT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						41.0	45.0	44.0					20																	60907503		2203	4299	6502	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60907503C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3477G>T	20.37:g.60907503C>A	ENSP00000252999:p.Gln1159His						p.Q1159H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		28	3543	-	Breast(26;1.57e-08)		1159			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.3477G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315380	0.05422	.	.	ENSG00000130702	ENST00000252999	T	0.18960	2.18	4.76	2.74	0.32292	.	0.413038	0.26696	N	0.022968	T	0.12050	0.0293	N	0.25890	0.77	0.45342	D	0.998331	B	0.12630	0.006	B	0.10450	0.005	T	0.13282	-1.0515	10	0.36615	T	0.2	.	4.0621	0.09843	0.2915:0.4892:0.1413:0.078	.	1159	O15230	LAMA5_HUMAN	H	1159	ENSP00000252999:Q1159H	ENSP00000252999:Q1159H	Q	-	3	2	LAMA5	60340898	0.815000	0.29118	0.415000	0.26534	0.075000	0.17131	-0.084000	0.11268	0.390000	0.25115	-0.678000	0.03780	CAG		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	49	1	0	0.00024832	1	0.0002712	4	49				
ATE1	11101	broad.mit.edu	37	10	123658451	123658451	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658451C>A	ENST00000224652.6	-	7	1028				ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000540606.1_Nonsense_Mutation_p.E276*|ATE1_ENST00000369043.3_Nonsense_Mutation_p.E283*|ATE1_ENST00000369040.3_Nonsense_Mutation_p.E187*|ATE1_ENST00000481784.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GACTTGAACTCTGGGTCCTCA	0.438																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(847-849)Gag>Tag		arginyltransferase 1							166.0	138.0	148.0					10																	123658451		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658451C>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+929G>T	10.37:g.123658451C>A						ATE1_ENST00000540606.1_Nonsense_Mutation_p.E276*|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000369040.3_Nonsense_Mutation_p.E187*	p.E283*	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			7	933	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	283					O95261|Q5SQQ3|Q8WW04	Nonsense_Mutation	SNP	ENST00000224652.6	37	c.847G>T	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	38	6.896140	0.97916	.	.	ENSG00000107669	ENST00000369043;ENST00000369040;ENST00000540606	.	.	.	5.66	5.66	0.87406	.	0.235565	0.43579	D	0.000559	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.6327	15.5539	0.76177	0.0:0.8233:0.1767:0.0	.	.	.	.	X	283;187;276	.	ENSP00000358036:E187X	E	-	1	0	ATE1	123648441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.691000	0.47010	2.680000	0.91292	0.655000	0.94253	GAG		0.438	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		9	50	1	0	7.48243e-07	1	8.70085e-07	9	50				
ZDHHC18	84243	broad.mit.edu	37	1	27177723	27177723	+	Splice_Site	SNP	G	G	A	rs200472166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27177723G>A	ENST00000374142.4	+	6	1031		c.e6+1		ZDHHC18_ENST00000478902.1_Splice_Site	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18						cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TAATGAAGACGTGAGTAAACC	0.587																																						ENST00000374142.3																			0				endometrium(1)|large_intestine(2)	3						c.e6+1		zinc finger, DHHC-type containing 18		G		0,4406		0,0,2203	128.0	111.0	117.0			5.0	1.0	1		117	1,8599	1.2+/-3.3	0,1,4299	yes	splice-5	ZDHHC18	NM_032283.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			27177723	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	84243					integral to membrane	zinc ion binding	g.chr1:27177723G>A	AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"""Zinc fingers, DHHC-type"""	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.936+1G>A	1.37:g.27177723G>A						ZDHHC18_ENST00000478902.1_Splice_Site		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)	6	1031	+		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)						A6NHY9|B4DQ84|Q5JYH0|Q9H020	Splice_Site	SNP	ENST00000374142.4	37		CCDS30650.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900664	0.72754	0.0	1.16E-4	ENSG00000204160	ENST00000374142;ENST00000374141;ENST00000488397	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8054	0.92035	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZDHHC18	27050310	1.000000	0.71417	0.964000	0.40570	0.788000	0.44548	9.208000	0.95075	2.744000	0.94065	0.655000	0.94253	.		0.587	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283	Intron	19	27	0	0	0	1	0	19	27				
CCDC176	80127	broad.mit.edu	37	14	74516428	74516428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74516428G>A	ENST00000394009.3	+	8	939	c.816G>A	c.(814-816)aaG>aaA	p.K272K	CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	272					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											TGTTGGTTAAGGAAAAGATTA	0.413																																						ENST00000394009.3																			0											c.(814-816)aaG>aaA		coiled-coil domain containing 176							42.0	35.0	37.0					14																	74516428		692	1591	2283	SO:0001819	synonymous_variant	80127							g.chr14:74516428G>A	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.816G>A	14.37:g.74516428G>A						AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_5'UTR	p.K272K	NM_025057.2	NP_079333.2					8	939	+								Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	c.816G>A	CCDS32119.2																																																																																				0.413	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		10	24	0	0	0	1	0	10	24				
TIPARP	25976	broad.mit.edu	37	3	156411977	156411977	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156411977G>T	ENST00000461166.1	+	3	1674	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	TIPARP_ENST00000542783.1_Splice_Site_p.E362D|TIPARP_ENST00000486483.1_Splice_Site_p.E362D|TIPARP_ENST00000295924.7_Splice_Site_p.E362D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	362	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGTATCCCGAGGTATTTACAG	0.373																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.e3+1		TCDD-inducible poly(ADP-ribose) polymerase							119.0	119.0	119.0					3																	156411977		2203	4300	6503	SO:0001630	splice_region_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411977G>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1086+1G>T	3.37:g.156411977G>T						TIPARP_ENST00000542783.1_Splice_Site_p.E362_splice|TIPARP_ENST00000486483.1_Splice_Site_p.E362_splice|TIPARP_ENST00000295924.7_Splice_Site_p.E362_splice	p.E362_splice	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1674	+			362			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Splice_Site	SNP	ENST00000461166.1	37	c.1086_splice	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.26|19.26	3.793261|3.793261	0.70452|0.70452	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.51;1.51;1.51|.	5.04|5.04	5.04|5.04	0.67666|0.67666	WWE domain (1);|.	0.111525|.	0.64402|.	D|.	0.000015|.	T|T	0.73125|0.73125	0.3547|0.3547	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|.	0.34462|.	0.454|.	B|.	0.27262|.	0.078|.	T|T	0.71642|0.71642	-0.4531|-0.4531	10|5	0.54805|.	T|.	0.06|.	.|.	18.3717|18.3717	0.90409|0.90409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	362|.	Q7Z3E1|.	PARPT_HUMAN|.	D|F	362|65	ENSP00000418757:E362D;ENSP00000295924:E362D;ENSP00000420612:E362D;ENSP00000419982:E362D;ENSP00000418829:E362D;ENSP00000438345:E362D|.	ENSP00000295924:E362D|.	E|V	+|+	3|1	2|0	TIPARP|TIPARP	157894671|157894671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	9.160000|9.160000	0.94734|0.94734	2.525000|2.525000	0.85131|0.85131	0.655000|0.655000	0.94253|0.94253	GAG|GTC		0.373	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	Missense_Mutation	6	99	1	0	3.59834e-05	1	4.01776e-05	6	99				
ACTG1	71	broad.mit.edu	37	17	79478420	79478420	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79478420C>A	ENST00000575842.1	-	3	1022	c.596G>T	c.(595-597)aGc>aTc	p.S199I	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.S199I|ACTG1_ENST00000331925.2_Missense_Mutation_p.S199I|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.S199I			P63261	ACTG_HUMAN	actin, gamma 1	199					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGTGGTGAAGCTGTAGCCTCG	0.642																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(595-597)aGc>aTc		actin, gamma 1							56.0	58.0	57.0					17																	79478420		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478420C>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.596G>T	17.37:g.79478420C>A	ENSP00000458162:p.Ser199Ile					ACTG1_ENST00000573283.1_Missense_Mutation_p.S199I|ACTG1_ENST00000575087.1_Missense_Mutation_p.S199I|ACTG1_ENST00000331925.2_Missense_Mutation_p.S199I	p.S199I			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	1022	-	all_neural(118;0.0878)|Melanoma(429;0.242)		199					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.596G>T	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	c	13.36	2.214872	0.39102	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.95656	-3.77	4.56	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	M	0.85542	2.76	0.41608	D	0.98889	B	0.27140	0.169	B	0.43680	0.427	D	0.96347	0.9255	10	0.87932	D	0	.	12.8917	0.58076	0.1644:0.8356:0.0:0.0	.	199	P63261	ACTG_HUMAN	I	199;157	ENSP00000331514:S199I	ENSP00000331514:S199I	S	-	2	0	ACTG1	77093015	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	3.761000	0.55242	0.922000	0.37019	0.553000	0.69018	AGC		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		4	59	1	0	0.014758	1	0.0152625	4	59				
PDE7A	5150	broad.mit.edu	37	8	66637059	66637059	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66637059C>A	ENST00000401827.3	-	10	1461	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	PDE7A_ENST00000379419.4_Missense_Mutation_p.G314C|PDE7A_ENST00000396642.3_Missense_Mutation_p.G340C|PDE7A_ENST00000518667.1_5'Flank	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	340	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CATAAATCACCTCTATCCAAA	0.413																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(1018-1020)Ggt>Tgt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						117.0	114.0	115.0					8																	66637059		2203	4300	6503	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66637059C>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1018G>T	8.37:g.66637059C>A	ENSP00000385632:p.Gly340Cys					PDE7A_ENST00000379419.4_Missense_Mutation_p.G314C|PDE7A_ENST00000396642.3_Missense_Mutation_p.G340C	p.G340C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		10	1461	-			340			Catalytic (By similarity).		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.1018G>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063930	0.76187	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	T;T;T	0.79749	-1.3;-1.3;-0.73	5.61	5.61	0.85477	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.182869	0.56097	D	0.000037	D	0.88858	0.6551	M	0.83223	2.63	0.45777	D	0.998664	P;D;D	0.56035	0.937;0.97;0.974	B;P;P	0.55222	0.386;0.771;0.612	D	0.90153	0.4222	10	0.87932	D	0	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	340;340;314	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	C	340;314;340	ENSP00000385632:G340C;ENSP00000368730:G314C;ENSP00000379881:G340C	ENSP00000368730:G314C	G	-	1	0	PDE7A	66799613	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	3.987000	0.56944	2.630000	0.89119	0.650000	0.86243	GGT		0.413	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			7	94	1	0	1	1	1	7	94				
GLIS1	148979	broad.mit.edu	37	1	54060032	54060032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54060032G>T	ENST00000312233.2	-	3	1110	c.544C>A	c.(544-546)Ctg>Atg	p.L182M		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCAGCCCCAGGCCTCCAAGG	0.697																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(544-546)Ctg>Atg		GLIS family zinc finger 1							11.0	12.0	12.0					1																	54060032		2176	4261	6437	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060032G>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.544C>A	1.37:g.54060032G>T	ENSP00000309653:p.Leu182Met						p.L182M	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			3	1110	-			182						Missense_Mutation	SNP	ENST00000312233.2	37	c.544C>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347087	0.61183	.	.	ENSG00000174332	ENST00000312233	T	0.11277	2.79	5.07	2.0	0.26442	.	0.000000	0.43110	D	0.000612	T	0.10165	0.0249	M	0.72118	2.19	0.28529	N	0.912668	P	0.39831	0.69	B	0.36666	0.23	T	0.10941	-1.0608	10	0.33141	T	0.24	.	3.4878	0.07626	0.1561:0.1317:0.577:0.1352	.	182	Q8NBF1	GLIS1_HUMAN	M	182	ENSP00000309653:L182M	ENSP00000309653:L182M	L	-	1	2	GLIS1	53832620	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.027000	0.49697	0.668000	0.31126	0.462000	0.41574	CTG		0.697	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		4	6	1	0	0.00909568	1	0.00947522	4	6				
SLC4A3	6508	broad.mit.edu	37	2	220497697	220497697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220497697G>A	ENST00000358055.3	+	9	1755	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	SLC4A3_ENST00000373760.2_Missense_Mutation_p.A415T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A442T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A415T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A442T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	415					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACAGGGCCAGCGTCCT	0.637																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(1243-1245)Gcc>Acc		solute carrier family 4 (anion exchanger), member 3							66.0	57.0	60.0					2																	220497697		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220497697G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1243G>A	2.37:g.220497697G>A	ENSP00000350756:p.Ala415Thr					SLC4A3_ENST00000373760.2_Missense_Mutation_p.A415T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A415T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A442T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A442T	p.A415T			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1755	+		Renal(207;0.0183)	415					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.1243G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038895	0.75617	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	4.72	4.72	0.59763	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.061139	0.64402	D	0.000004	D	0.88288	0.6396	M	0.85859	2.78	0.58432	D	0.999994	P;P	0.47604	0.898;0.876	P;P	0.53035	0.716;0.511	D	0.90399	0.4401	10	0.62326	D	0.03	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	415;442	P48751;P48751-3	B3A3_HUMAN;.	T	415;415;442;442;415;217	ENSP00000350756:A415T;ENSP00000362865:A415T;ENSP00000273063:A442T;ENSP00000362867:A442T;ENSP00000314006:A415T;ENSP00000414722:A217T	ENSP00000273063:A442T	A	+	1	0	SLC4A3	220205941	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	3.770000	0.55310	2.163000	0.67991	0.643000	0.83706	GCC		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		16	23	0	0	0	1	0	16	23				
BPI	671	broad.mit.edu	37	20	36936031	36936031	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36936031T>C	ENST00000262865.4	+	2	294	c.205T>C	c.(205-207)Tca>Cca	p.S69P	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	69					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCTGACTACTCAGACAGCTT	0.527																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(205-207)Tca>Cca		bactericidal/permeability-increasing protein							119.0	113.0	115.0					20																	36936031		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36936031T>C	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.205T>C	20.37:g.36936031T>C	ENSP00000262865:p.Ser69Pro					CTD-2308N23.2_ENST00000437016.1_RNA	p.S69P	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			2	294	+		Myeloproliferative disorder(115;0.00878)	69					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.205T>C	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416860	0.42918	.	.	ENSG00000101425	ENST00000262865	T	0.06371	3.31	4.21	1.83	0.25207	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.605200	0.15240	N	0.272909	T	0.25195	0.0612	M	0.88031	2.925	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.03384	-1.1042	10	0.59425	D	0.04	-5.4348	8.3509	0.32301	0.0:0.0:0.3975:0.6025	.	69	P17213	BPI_HUMAN	P	69	ENSP00000262865:S69P	ENSP00000262865:S69P	S	+	1	0	BPI	36369445	0.020000	0.18652	0.017000	0.16124	0.001000	0.01503	0.897000	0.28390	0.365000	0.24400	-0.316000	0.08728	TCA		0.527	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		27	55	0	0	0	1	0	27	55				
ADAMTS10	81794	broad.mit.edu	37	19	8651776	8651776	+	Silent	SNP	G	G	A	rs141517207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651776G>A	ENST00000597188.1	-	19	2433	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	ADAMTS10_ENST00000595838.1_Silent_p.Y208Y|ADAMTS10_ENST00000270328.4_Silent_p.Y721Y	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	721	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGACATCCTCGTACCCTGAAC	0.557											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2161-2163)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 10		G		6,4400	11.4+/-27.6	0,6,2197	139.0	115.0	123.0		2163	-7.4	0.9	19	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous	ADAMTS10	NM_030957.2		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		721/1104	8651776	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651776G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2163C>T	19.37:g.8651776G>A			OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_ENST00000597188.1_Silent_p.Y721Y|ADAMTS10_ENST00000595838.1_Silent_p.Y208Y	p.Y721Y			Q9H324	ATS10_HUMAN			18	2429	-			721			Spacer.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.2163C>T	CCDS12206.1																																																																																				0.557	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		24	30	0	0	0	1	0	24	30				
STAU1	6780	broad.mit.edu	37	20	47734473	47734473	+	Silent	SNP	C	C	A	rs374676040		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47734473C>A	ENST00000371856.2	-	11	1760	c.1350G>T	c.(1348-1350)acG>acT	p.T450T	STAU1_ENST00000340954.7_Silent_p.T369T|STAU1_ENST00000360426.4_Silent_p.T369T|STAU1_ENST00000371802.1_Silent_p.T375T|STAU1_ENST00000371792.1_Silent_p.T367T|STAU1_ENST00000371828.3_Silent_p.T375T|STAU1_ENST00000347458.5_Silent_p.T369T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	450					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCAGTTACCGTGGCCTTGG	0.542																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1123-1125)acG>acT		staufen double-stranded RNA binding protein 1							139.0	133.0	135.0					20																	47734473		2203	4300	6503	SO:0001819	synonymous_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734473C>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1350G>T	20.37:g.47734473C>A						STAU1_ENST00000340954.7_Silent_p.T369T|STAU1_ENST00000347458.5_Silent_p.T369T|STAU1_ENST00000371856.2_Silent_p.T450T|STAU1_ENST00000371792.1_Silent_p.T367T|STAU1_ENST00000360426.4_Silent_p.T369T|STAU1_ENST00000371802.1_Silent_p.T375T	p.T375T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1612	-			450	QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).				A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	ENST00000371856.2	37	c.1125G>T	CCDS13414.1																																																																																				0.542	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		11	93	1	0	2.80697e-09	1	3.39963e-09	11	93				
IL3RA	3563	broad.mit.edu	37	X	1475123	1475123	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1475123C>A	ENST00000331035.4	+	7	975	c.626C>A	c.(625-627)aCt>aAt	p.T209N	IL3RA_ENST00000381469.2_Missense_Mutation_p.T131N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	209					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGATATTAACTCCACCCAAC	0.328																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(625-627)aCt>aAt		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						182.0	174.0	177.0					X																	1475123		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1475123C>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.626C>A	X.37:g.1475123C>A	ENSP00000327890:p.Thr209Asn					IL3RA_ENST00000381469.2_Missense_Mutation_p.T131N	p.T209N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			7	975	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	209					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.626C>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.550779	0.00140	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	D;T;D	0.85773	-2.03;0.65;-2.03	0.852	-1.7	0.08159	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.368680	0.06062	U	0.658541	T	0.64450	0.2599	N	0.05078	-0.115	0.09310	N	1	B;B	0.14805	0.011;0.002	B;B	0.15052	0.012;0.002	T	0.45833	-0.9234	10	0.13470	T	0.59	-21.9647	2.8406	0.05528	0.0:0.2926:0.4222:0.2852	.	130;209	P26951-2;P26951	.;IL3RA_HUMAN	N	209;131;131	ENSP00000327890:T209N;ENSP00000414867:T131N;ENSP00000370878:T131N	ENSP00000327890:T209N	T	+	2	0	IL3RA	1435123	0.000000	0.05858	0.001000	0.08648	0.394000	0.30568	-1.891000	0.01611	-1.525000	0.01762	0.115000	0.15696	ACT		0.328	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			7	101	1	0	0.27861	1	0.279982	7	101				
DISP2	85455	broad.mit.edu	37	15	40661824	40661824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40661824C>T	ENST00000267889.3	+	8	3598	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1171					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGGCACGGCGTCGGAGCCC	0.652																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(3511-3513)Cgt>Tgt		dispatched homolog 2 (Drosophila)							61.0	68.0	65.0					15																	40661824		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40661824C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3511C>T	15.37:g.40661824C>T	ENSP00000267889:p.Arg1171Cys					RP11-64K12.4_ENST00000558421.1_RNA	p.R1171C	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3598	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1171					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.3511C>T	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029367	0.75504	.	.	ENSG00000140323	ENST00000267889	T	0.15952	2.38	5.51	5.51	0.81932	.	0.180634	0.50627	D	0.000105	T	0.22975	0.0555	L	0.27053	0.805	0.45806	D	0.998684	D	0.76494	0.999	P	0.56916	0.809	T	0.00341	-1.1804	10	0.87932	D	0	-34.7065	12.2234	0.54447	0.2802:0.7198:0.0:0.0	.	1171	A7MBM2	DISP2_HUMAN	C	1171	ENSP00000267889:R1171C	ENSP00000267889:R1171C	R	+	1	0	DISP2	38449116	0.997000	0.39634	0.999000	0.59377	0.946000	0.59487	3.118000	0.50414	2.873000	0.98535	0.561000	0.74099	CGT		0.652	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		30	58	0	0	0	1	0	30	58				
FLNA	2316	broad.mit.edu	37	X	153589697	153589697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153589697C>T	ENST00000369850.3	-	21	3422	c.3186G>A	c.(3184-3186)gtG>gtA	p.V1062V	FLNA_ENST00000422373.1_Silent_p.V1062V|FLNA_ENST00000344736.4_Silent_p.V1062V|FLNA_ENST00000360319.4_Silent_p.V1062V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1062					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGGGGCCACAGCTTCCA	0.622																																						ENST00000422373.1																			0				breast(6)	6						c.(3184-3186)gtG>gtA		filamin A, alpha							41.0	45.0	44.0					X																	153589697		1988	4117	6105	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153589697C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3186G>A	X.37:g.153589697C>T						FLNA_ENST00000344736.4_Silent_p.V1062V|FLNA_ENST00000360319.4_Silent_p.V1062V|FLNA_ENST00000369850.3_Silent_p.V1062V	p.V1062V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			21	3434	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1062					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.3186G>A	CCDS48194.1																																																																																				0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			24	32	0	0	0	1	0	24	32				
CSF1R	1436	broad.mit.edu	37	5	149441346	149441346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149441346C>T	ENST00000286301.3	-	12	1984	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	565	Regulatory juxtamembrane domain.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCGTGGGGTCGATGAAAGTA	0.552																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(1693-1695)Gac>Aac		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						188.0	178.0	181.0					5																	149441346		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149441346C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1693G>A	5.37:g.149441346C>T	ENSP00000286301:p.Asp565Asn					CSF1R_ENST00000515239.1_5'UTR	p.D565N	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		12	1984	-			565					B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1693G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252416	0.80135	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	D	0.97352	-4.35	4.56	3.7	0.42460	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000078	D	0.98213	0.9409	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.85130	0.826;0.997	D	0.98755	1.0722	10	0.87932	D	0	.	12.5746	0.56357	0.0:0.9194:0.0:0.0806	.	417;565	B4E2Y8;P07333	.;CSF1R_HUMAN	N	565;417	ENSP00000286301:D565N	ENSP00000286301:D565N	D	-	1	0	CSF1R	149421539	1.000000	0.71417	0.915000	0.36163	0.532000	0.34746	5.905000	0.69893	1.139000	0.42245	0.448000	0.29417	GAC		0.552	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		43	75	0	0	0	1	0	43	75				
ZNF304	57343	broad.mit.edu	37	19	57865197	57865197	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57865197C>A	ENST00000282286.5	+	2	311	c.138C>A	c.(136-138)aaC>aaA	p.N46K	CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000598744.1_Missense_Mutation_p.N4K|ZNF304_ENST00000443917.2_Missense_Mutation_p.N46K|ZNF304_ENST00000391705.3_Missense_Mutation_p.N46K			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGCTGGAGAACTTTGCACTTG	0.438																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(136-138)aaC>aaA		zinc finger protein 304							243.0	185.0	204.0					19																	57865197		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57865197C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.138C>A	19.37:g.57865197C>A	ENSP00000282286:p.Asn46Lys					ZNF304_ENST00000282286.5_Missense_Mutation_p.N46K|ZNF304_ENST00000443917.2_Missense_Mutation_p.N46K|ZNF304_ENST00000598744.1_Missense_Mutation_p.N4K	p.N46K	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	422	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	46			KRAB.			Missense_Mutation	SNP	ENST00000282286.5	37	c.138C>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202030	0.58234	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.03607	3.87;3.87;3.87	3.49	2.4	0.29515	Krueppel-associated box (4);	.	.	.	.	T	0.26340	0.0643	H	0.97051	3.93	0.21604	N	0.999626	D;P	0.89917	1.0;0.463	D;B	0.87578	0.998;0.139	T	0.08659	-1.0711	9	0.62326	D	0.03	.	9.5722	0.39436	0.0:0.5763:0.4237:0.0	.	46;46	Q9HCX3;E7EQD3	ZN304_HUMAN;.	K	46	ENSP00000282286:N46K;ENSP00000375586:N46K;ENSP00000401642:N46K	ENSP00000282286:N46K	N	+	3	2	ZNF304	62557009	0.064000	0.20934	0.976000	0.42696	0.995000	0.86356	-0.387000	0.07361	0.997000	0.38969	0.557000	0.71058	AAC		0.438	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			18	23	1	0	2.4624e-09	1	2.98951e-09	18	23				
ZNF423	23090	broad.mit.edu	37	16	49559304	49559304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:49559304C>T	ENST00000561648.1	-	6	3732	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	ZNF423_ENST00000535559.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1167S|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1227S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1227					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGAAGGTGCCGCCCATGCCC	0.577																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3679-3681)Ggc>Agc		zinc finger protein 423							108.0	87.0	94.0					16																	49559304		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49559304C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3679G>A	16.37:g.49559304C>T	ENSP00000455426:p.Gly1227Ser					ZNF423_ENST00000262383.2_Missense_Mutation_p.G1227S|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1167S|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1167S	p.G1227S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			6	3732	-		all_cancers(37;0.0155)	1227					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3679G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325683	0.81580	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08896	3.04;3.1	5.38	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	N	0.10837	0.055	0.45946	D	0.998779	D	0.89917	1.0	D	0.91635	0.999	T	0.37663	-0.9696	9	.	.	.	-28.7483	15.5465	0.76104	0.139:0.861:0.0:0.0	.	1227	Q2M1K9	ZN423_HUMAN	S	1227;1110	ENSP00000262383:G1227S;ENSP00000442321:G1110S	.	G	-	1	0	ZNF423	48116805	1.000000	0.71417	0.928000	0.36995	0.987000	0.75469	5.766000	0.68843	1.248000	0.43934	0.462000	0.41574	GGC		0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		11	25	0	0	0	1	0	11	25				
LSM12	124801	broad.mit.edu	37	17	42113579	42113579	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42113579G>C	ENST00000591247.1	-	6	907	c.585C>G	c.(583-585)tcC>tcG	p.S195S	LSM12_ENST00000293406.3_Silent_p.S195S|LSM12_ENST00000585388.1_3'UTR	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	195										NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TACGGACTCAGGATGACAGGG	0.542																																						ENST00000591247.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6						c.(583-585)tcC>tcG		LSM12 homolog (S. cerevisiae)							75.0	68.0	71.0					17																	42113579		2202	4281	6483	SO:0001819	synonymous_variant	124801						protein binding	g.chr17:42113579G>C	BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.585C>G	17.37:g.42113579G>C						LSM12_ENST00000585388.1_3'UTR|LSM12_ENST00000293406.3_Silent_p.S195S	p.S195S	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	6	907	-		Breast(137;0.0313)|Prostate(33;0.0861)	195					Q86YB1|Q96NL5	Silent	SNP	ENST00000591247.1	37	c.585C>G	CCDS11475.1																																																																																				0.542	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457672.1	NM_152344		5	26	0	0	0	1	0	5	26				
P2RY6	5031	broad.mit.edu	37	11	73007793	73007793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007793G>A	ENST00000393590.2	+	2	529	c.230G>A	c.(229-231)tGc>tAc	p.C77Y	P2RY6_ENST00000538328.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000540342.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000393591.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000540124.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000542092.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000393592.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000349767.2_Missense_Mutation_p.C77Y	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	77					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTATATGCCTGCTCCCTGCCC	0.597																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(229-231)tGc>tAc		pyrimidinergic receptor P2Y, G-protein coupled, 6							199.0	176.0	184.0					11																	73007793		2200	4293	6493	SO:0001583	missense	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007793G>A		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.230G>A	11.37:g.73007793G>A	ENSP00000377215:p.Cys77Tyr					P2RY6_ENST00000542092.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000349767.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000540342.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000540124.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000393592.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000393591.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000538328.1_Missense_Mutation_p.C77Y	p.C77Y	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	529	+			77					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.230G>A	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395774	0.42512	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	4.36	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.221758	0.46145	D	0.000313	T	0.54695	0.1874	M	0.67569	2.06	0.43485	D	0.995715	D	0.67145	0.996	D	0.64877	0.93	T	0.60398	-0.7271	10	0.72032	D	0.01	.	13.7002	0.62604	0.0:0.156:0.844:0.0	.	77	Q15077	P2RY6_HUMAN	Y	77	ENSP00000443427:C77Y;ENSP00000445652:C77Y;ENSP00000309771:C77Y;ENSP00000377217:C77Y;ENSP00000441079:C77Y;ENSP00000377216:C77Y;ENSP00000442551:C77Y;ENSP00000377215:C77Y;ENSP00000440770:C77Y;ENSP00000442990:C77Y	ENSP00000309771:C77Y	C	+	2	0	P2RY6	72685441	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	2.738000	0.47401	1.159000	0.42565	0.491000	0.48974	TGC		0.597	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			18	130	0	0	0	1	0	18	130				
GOLGB1	2804	broad.mit.edu	37	3	121410038	121410038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121410038G>T	ENST00000340645.5	-	14	8283	c.8158C>A	c.(8158-8160)Ctc>Atc	p.L2720I	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L2725I	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2720					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGACCATGAGTAATTTCTGT	0.403																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8173-8175)Ctc>Atc		golgin B1							256.0	263.0	261.0					3																	121410038		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410038G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8158C>A	3.37:g.121410038G>T	ENSP00000341848:p.Leu2720Ile					GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2720I	p.L2725I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8283	-			2720					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8173C>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328617	0.24167	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.18657	2.2;2.2	5.72	3.92	0.45320	.	0.116159	0.39341	N	0.001390	T	0.23532	0.0569	L	0.56769	1.78	0.43255	D	0.995189	P;P;P	0.47841	0.901;0.901;0.822	B;B;B	0.44044	0.439;0.439;0.276	T	0.02220	-1.1193	10	0.37606	T	0.19	.	10.668	0.45741	0.1595:0.0:0.8405:0.0	.	2725;2725;2720	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	I	2720;2725	ENSP00000341848:L2720I;ENSP00000377275:L2725I	ENSP00000341848:L2720I	L	-	1	0	GOLGB1	122892728	0.991000	0.36638	0.463000	0.27130	0.994000	0.84299	1.983000	0.40648	1.418000	0.47098	0.655000	0.94253	CTC		0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		24	285	1	0	2.27525e-19	1	2.97756e-19	24	285				
FUT8	2530	broad.mit.edu	37	14	66028381	66028381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:66028381G>A	ENST00000360689.5	+	3	1827	c.100G>A	c.(100-102)Gac>Aac	p.D34N	FUT8_ENST00000394586.2_Missense_Mutation_p.D34N|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.D34N|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	34					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACGAGATAATGACCATCCTGA	0.468																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(100-102)Gac>Aac		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							140.0	135.0	137.0					14																	66028381		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028381G>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.100G>A	14.37:g.66028381G>A	ENSP00000353910:p.Asp34Asn					FUT8_ENST00000394586.2_Missense_Mutation_p.D34N|FUT8_ENST00000394585.1_Missense_Mutation_p.D34N|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron	p.D34N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1827	+			34					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.100G>A	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000627	0.74818	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000555559;ENST00000394585;ENST00000557338;ENST00000554610;ENST00000554667	T;T;T	0.23348	1.91;1.91;1.91	5.85	5.85	0.93711	.	0.049221	0.85682	D	0.000000	T	0.18964	0.0455	N	0.14661	0.345	0.80722	D	1	B	0.23185	0.081	B	0.27796	0.083	T	0.07328	-1.0778	10	0.25751	T	0.34	-14.4304	17.6515	0.88165	0.0:0.0:1.0:0.0	.	34	Q9BYC5	FUT8_HUMAN	N	34	ENSP00000353910:D34N;ENSP00000378087:D34N;ENSP00000378086:D34N	ENSP00000345865:D34N	D	+	1	0	FUT8	65098134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.767000	0.95098	0.655000	0.94253	GAC		0.468	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		57	62	0	0	0	1	0	57	62				
SLC34A2	10568	broad.mit.edu	37	4	25667852	25667852	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25667852G>A	ENST00000382051.3	+	5	532	c.482G>A	c.(481-483)aGc>aAc	p.S161N	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Missense_Mutation_p.S160N|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S160N	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	161					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGAGCTCCAGCACCTCAACG	0.547			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(481-483)aGc>aAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							130.0	117.0	121.0					4																	25667852		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25667852G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.482G>A	4.37:g.25667852G>A	ENSP00000371483:p.Ser161Asn					SLC34A2_ENST00000503434.1_Missense_Mutation_p.S160N|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S160N|SLC34A2_ENST00000510033.2_3'UTR	p.S161N	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			5	532	+		Breast(46;0.0503)	161					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.482G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257336	0.95368	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	H	0.98559	4.265	0.80722	D	1	P;P	0.50617	0.922;0.937	P;D	0.63877	0.833;0.919	D	0.98136	1.0433	10	0.72032	D	0.01	-36.7783	19.1394	0.93441	0.0:0.0:1.0:0.0	.	160;161	O95436-2;O95436	.;NPT2B_HUMAN	N	160;160;161;160;161	ENSP00000423038:S160N;ENSP00000425501:S160N;ENSP00000371483:S161N;ENSP00000423021:S160N;ENSP00000424266:S161N	ENSP00000371483:S161N	S	+	2	0	SLC34A2	25276950	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.779000	0.62375	2.609000	0.88269	0.561000	0.74099	AGC		0.547	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		33	54	0	0	0	1	0	33	54				
LMTK2	22853	broad.mit.edu	37	7	97822821	97822821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822821C>A	ENST00000297293.5	+	11	3337	c.3044C>A	c.(3043-3045)tCt>tAt	p.S1015Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1015					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTTAGGATCTCACACTCCC	0.587																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3043-3045)tCt>tAt		lemur tyrosine kinase 2							91.0	99.0	97.0					7																	97822821		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822821C>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3044C>A	7.37:g.97822821C>A	ENSP00000297293:p.Ser1015Tyr						p.S1015Y	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3337	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1015					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3044C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239651	0.22711	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.13	4.24	0.50183	.	0.699642	0.15059	N	0.282861	T	0.72692	0.3492	L	0.54323	1.7	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.65994	-0.6033	10	0.66056	D	0.02	.	8.7193	0.34430	0.0:0.7676:0.1515:0.0809	.	1015	Q8IWU2	LMTK2_HUMAN	Y	1015	ENSP00000297293:S1015Y	ENSP00000297293:S1015Y	S	+	2	0	LMTK2	97660757	0.001000	0.12720	0.002000	0.10522	0.038000	0.13279	1.243000	0.32767	1.269000	0.44280	0.650000	0.86243	TCT		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	105	1	0	0.0293803	1	0.0301098	7	105				
PDSS1	23590	broad.mit.edu	37	10	26998656	26998656	+	Silent	SNP	G	G	A	rs149274703	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26998656G>A	ENST00000376215.5	+	5	479	c.426G>A	c.(424-426)gcG>gcA	p.A142A	PDSS1_ENST00000376203.5_Silent_p.A142A	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	142				A -> V (in Ref. 1; AAD28559). {ECO:0000305}.	isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTATTGTGGCGCTAATGGCCC	0.398													G|||	6	0.00119808	0.0	0.0	5008	,	,		17498	0.0		0.0	False		,,,				2504	0.0061					ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(424-426)gcG>gcA		prenyl (decaprenyl) diphosphate synthase, subunit 1		G		1,4405	2.1+/-5.4	0,1,2202	146.0	146.0	146.0		426	4.4	1.0	10	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDSS1	NM_014317.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		142/416	26998656	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26998656G>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.426G>A	10.37:g.26998656G>A						PDSS1_ENST00000376203.5_Silent_p.A142A	p.A142A	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			5	479	+			142	A -> V (in Ref. 1; AAD28559).				Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Silent	SNP	ENST00000376215.5	37	c.426G>A	CCDS31168.1																																																																																				0.398	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			58	77	0	0	0	1	0	58	77				
TLR10	81793	broad.mit.edu	37	4	38776080	38776080	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776080T>C	ENST00000308973.4	-	4	1737	c.1132A>G	c.(1132-1134)Att>Gtt	p.I378V	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.I378V|TLR10_ENST00000508334.1_Missense_Mutation_p.I378V|TLR10_ENST00000361424.2_Missense_Mutation_p.I378V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	378					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCATTCAAAATGAGAGTTTTC	0.333																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1132-1134)Att>Gtt		toll-like receptor 10							66.0	71.0	69.0					4																	38776080		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776080T>C	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1132A>G	4.37:g.38776080T>C	ENSP00000308925:p.Ile378Val					TLR10_ENST00000361424.2_Missense_Mutation_p.I378V|TLR10_ENST00000506111.1_Missense_Mutation_p.I378V|TLR10_ENST00000508334.1_Missense_Mutation_p.I378V	p.I378V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1737	-			378					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1132A>G	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	T	9.113	1.007069	0.19199	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.17	-0.337	0.12654	.	0.434585	0.18086	N	0.152139	T	0.19685	0.0473	L	0.44542	1.39	0.20764	N	0.99985	B	0.14438	0.01	B	0.26864	0.074	T	0.22312	-1.0220	10	0.51188	T	0.08	.	6.5122	0.22228	0.0:0.1909:0.1206:0.6886	.	378	Q9BXR5	TLR10_HUMAN	V	378	ENSP00000308925:I378V;ENSP00000421483:I378V;ENSP00000354459:I378V;ENSP00000424923:I378V	ENSP00000308925:I378V	I	-	1	0	TLR10	38452475	0.034000	0.19679	0.993000	0.49108	0.808000	0.45660	0.401000	0.20948	-0.003000	0.14444	-0.346000	0.07831	ATT		0.333	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			41	57	0	0	0	1	0	41	57				
UBASH3A	53347	broad.mit.edu	37	21	43829702	43829702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829702C>T	ENST00000319294.6	+	3	370	c.339C>T	c.(337-339)ctC>ctT	p.L113L	UBASH3A_ENST00000450356.1_Silent_p.L113L|UBASH3A_ENST00000398367.1_Silent_p.L113L|UBASH3A_ENST00000291535.6_Silent_p.L113L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	113					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGTGACACTCTGTGACTTCT	0.522																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(337-339)ctC>ctT		ubiquitin associated and SH3 domain containing A							125.0	107.0	113.0					21																	43829702		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43829702C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.339C>T	21.37:g.43829702C>T						UBASH3A_ENST00000398367.1_Silent_p.L113L|UBASH3A_ENST00000291535.6_Silent_p.L113L|UBASH3A_ENST00000450356.1_Silent_p.L113L	p.L113L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			3	370	+			113					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.339C>T	CCDS13687.1																																																																																				0.522	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		4	61	0	0	0	1	0	4	61				
GUSB	2990	broad.mit.edu	37	7	65435343	65435343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65435343C>T	ENST00000304895.4	-	9	1532	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_ENST00000421103.1_Missense_Mutation_p.A322T|GUSB_ENST00000345660.6_Missense_Mutation_p.A417T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	468					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1402-1404)Gct>Act		glucuronidase, beta							85.0	83.0	84.0					7																	65435343		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65435343C>T	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1402G>A	7.37:g.65435343C>T	ENSP00000302728:p.Ala468Thr					GUSB_ENST00000345660.6_Missense_Mutation_p.A417T|GUSB_ENST00000421103.1_Missense_Mutation_p.A322T	p.A468T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			9	1532	-			468					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1402G>A	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106648	0.08780	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95821	-3.82;-3.82;-3.82	4.68	-1.99	0.07457	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.958632	0.08763	N	0.897413	D	0.90424	0.7002	L	0.50333	1.59	0.19775	N	0.999957	B;B	0.26708	0.157;0.0	B;B	0.18263	0.021;0.001	T	0.77262	-0.2653	10	0.19147	T	0.46	.	5.3881	0.16229	0.1235:0.5286:0.0:0.3479	.	322;468	E9PCV0;P08236	.;BGLR_HUMAN	T	468;322;417	ENSP00000302728:A468T;ENSP00000391390:A322T;ENSP00000340734:A417T	ENSP00000302728:A468T	A	-	1	0	GUSB	65072778	0.000000	0.05858	0.838000	0.33150	0.150000	0.21749	-0.172000	0.09868	-0.678000	0.05224	-2.978000	0.00080	GCT		0.572	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		32	18	0	0	0	1	0	32	18				
EPHB2	2048	broad.mit.edu	37	1	23111559	23111559	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111559C>T	ENST00000400191.3	+	3	819	c.801C>T	c.(799-801)acC>acT	p.T267T	EPHB2_ENST00000374630.3_Silent_p.T267T|EPHB2_ENST00000544305.1_Silent_p.T267T|EPHB2_ENST00000374627.1_Silent_p.T261T|EPHB2_ENST00000374632.3_Silent_p.T267T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	267	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAATGGCACCGTCTGCCGAG	0.622																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(799-801)acC>acT		EPH receptor B2							39.0	41.0	40.0					1																	23111559		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111559C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.801C>T	1.37:g.23111559C>T						EPHB2_ENST00000374627.1_Silent_p.T261T|EPHB2_ENST00000544305.1_Silent_p.T267T|EPHB2_ENST00000374630.3_Silent_p.T267T|EPHB2_ENST00000374632.3_Silent_p.T267T	p.T267T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	819	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	267			Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.801C>T																																																																																					0.622	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		22	37	0	0	0	1	0	22	37				
RGAG1	57529	broad.mit.edu	37	X	109694910	109694910	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109694910C>A	ENST00000465301.2	+	3	1311	c.1065C>A	c.(1063-1065)ccC>ccA	p.P355P	RGAG1_ENST00000540313.1_Silent_p.P355P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	355										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGGCCCTACCCTCTGGAGTGA	0.542																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1063-1065)ccC>ccA		retrotransposon gag domain containing 1							212.0	205.0	207.0					X																	109694910		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694910C>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1065C>A	X.37:g.109694910C>A						RGAG1_ENST00000540313.1_Silent_p.P355P	p.P355P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1311	+			355					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1065C>A	CCDS14552.1																																																																																				0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		44	346	1	0	1.8453e-21	1	2.42927e-21	44	346				
ZNF71	58491	broad.mit.edu	37	19	57134091	57134091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57134091C>T	ENST00000328070.6	+	3	1670	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCGCAACACGAACCTGACG	0.642																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1435-1437)aCg>aTg		zinc finger protein 71							47.0	49.0	48.0					19																	57134091		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57134091C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1436C>T	19.37:g.57134091C>T	ENSP00000328245:p.Thr479Met						p.T479M	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1670	+			479					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1436C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059742	0.36373	.	.	ENSG00000197951	ENST00000328070	T	0.28895	1.59	3.11	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49133	0.1539	M	0.64404	1.975	0.24537	N	0.994083	D	0.89917	1.0	P	0.61722	0.893	T	0.36915	-0.9728	9	0.72032	D	0.01	.	14.1288	0.65240	0.0:1.0:0.0:0.0	.	479	Q9NQZ8	ZNF71_HUMAN	M	479	ENSP00000328245:T479M	ENSP00000328245:T479M	T	+	2	0	ZNF71	61825903	0.000000	0.05858	0.997000	0.53966	0.779000	0.44077	0.755000	0.26405	2.052000	0.61016	0.561000	0.74099	ACG		0.642	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		9	20	0	0	0	1	0	9	20				
PWP1	11137	broad.mit.edu	37	12	108102955	108102955	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102955C>A	ENST00000412830.3	+	13	1404	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	PWP1_ENST00000541166.1_Silent_p.I350I	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	412					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGTGAAGATCTGGGACATCT	0.398																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(1234-1236)atC>atA		PWP1 homolog (S. cerevisiae)							142.0	139.0	140.0					12																	108102955		2203	4300	6503	SO:0001819	synonymous_variant	11137				transcription, DNA-dependent	nucleus		g.chr12:108102955C>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1236C>A	12.37:g.108102955C>A						PWP1_ENST00000541166.1_Silent_p.I350I	p.I412I	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			13	1404	+			412					A8K3R6|Q7Z3X9	Silent	SNP	ENST00000412830.3	37	c.1236C>A	CCDS9114.1																																																																																				0.398	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		7	125	1	0	0.00198382	1	0.00210581	7	125				
IGFBPL1	347252	broad.mit.edu	37	9	38411458	38411458	+	Missense_Mutation	SNP	G	G	A	rs185417506		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38411458G>A	ENST00000377694.1	-	4	798	c.776C>T	c.(775-777)aCg>aTg	p.T259M		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	259	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		ATCTAGAACCGTCACTGTGCT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18943	0.001		0.0	False		,,,				2504	0.0					ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(775-777)aCg>aTg		insulin-like growth factor binding protein-like 1							121.0	106.0	111.0					9																	38411458		2203	4300	6503	SO:0001583	missense	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38411458G>A		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.776C>T	9.37:g.38411458G>A	ENSP00000366923:p.Thr259Met						p.T259M	NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	4	798	-			259			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000377694.1	37	c.776C>T	CCDS35017.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.337	0.827740	0.16749	.	.	ENSG00000137142	ENST00000377694	T	0.69306	-0.39	6.16	0.773	0.18516	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138937	0.29300	U	0.012547	T	0.59169	0.2174	M	0.84326	2.69	0.09310	N	0.999996	B	0.27316	0.175	B	0.19391	0.025	T	0.57394	-0.7819	10	0.62326	D	0.03	-4.3089	1.1533	0.01790	0.2439:0.1281:0.4438:0.1842	.	259	Q8WX77	IBPL1_HUMAN	M	259	ENSP00000366923:T259M	ENSP00000366923:T259M	T	-	2	0	IGFBPL1	38401458	0.457000	0.25752	0.190000	0.23270	0.486000	0.33341	0.542000	0.23222	0.189000	0.20188	-0.808000	0.03180	ACG		0.483	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		19	21	0	0	0	1	0	19	21				
POLK	51426	broad.mit.edu	37	5	74892160	74892160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74892160G>T	ENST00000241436.4	+	13	1814	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000352007.5_Nonsense_Mutation_p.E350*|POLK_ENST00000508526.1_Nonsense_Mutation_p.E350*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Nonsense_Mutation_p.E458*|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	548					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTACATTAGAGAAAACTGA	0.383								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1642-1644)Gag>Tag	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							41.0	43.0	43.0					5																	74892160		2201	4300	6501	SO:0001587	stop_gained	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892160G>T	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1642G>T	5.37:g.74892160G>T	ENSP00000241436:p.Glu548*					POLK_ENST00000508526.1_Nonsense_Mutation_p.E350*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Nonsense_Mutation_p.E458*|POLK_ENST00000352007.5_Nonsense_Mutation_p.E350*|POLK_ENST00000504026.1_Intron	p.E548*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1814	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	548					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	ENST00000241436.4	37	c.1642G>T	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386280	0.61956	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	.	.	.	5.66	4.79	0.61399	.	0.526637	0.21121	N	0.079801	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-6.8553	11.6882	0.51499	0.1421:0.0:0.8579:0.0	.	.	.	.	X	548;350;350;458	.	ENSP00000241436:E548X	E	+	1	0	POLK	74927916	0.995000	0.38212	0.517000	0.27799	0.028000	0.11728	2.316000	0.43761	1.392000	0.46585	-0.140000	0.14226	GAG		0.383	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		5	40	1	0	0.000602214	1	0.000649039	5	40				
ASIC5	51802	broad.mit.edu	37	4	156757855	156757855	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156757855G>A	ENST00000537611.2	-	8	1267	c.1221C>T	c.(1219-1221)agC>agT	p.S407S		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	407					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TGTATTTCCGGCTTTGATTCA	0.318																																						ENST00000537611.2																			0											c.(1219-1221)agC>agT		acid-sensing (proton-gated) ion channel family member 5							65.0	72.0	70.0					4																	156757855		2200	4300	6500	SO:0001819	synonymous_variant	51802					integral to membrane|plasma membrane		g.chr4:156757855G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1221C>T	4.37:g.156757855G>A							p.S407S	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			8	1267	-			407						Silent	SNP	ENST00000537611.2	37	c.1221C>T	CCDS3793.1																																																																																				0.318	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			36	41	0	0	0	1	0	36	41				
KIAA2022	340533	broad.mit.edu	37	X	73960023	73960023	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960023G>T	ENST00000055682.6	-	3	4980	c.4369C>A	c.(4369-4371)Ctg>Atg	p.L1457M		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1457					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATCTCTCAGGGCCTTGGAG	0.433																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4369-4371)Ctg>Atg		KIAA2022							205.0	167.0	180.0					X																	73960023		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960023G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4369C>A	X.37:g.73960023G>T	ENSP00000055682:p.Leu1457Met					KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1457M	p.L1457M			Q5QGS0	K2022_HUMAN			3	5020	-			1457					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4369C>A	CCDS35337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.57|12.57	1.978679|1.978679	0.34942|0.34942	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000373468;ENST00000055682|ENST00000424929	T;T|.	0.34859|.	1.34;1.34|.	5.36|5.36	3.61|3.61	0.41365|0.41365	.|.	0.067612|.	0.64402|.	D|.	0.000011|.	T|T	0.44329|0.44329	0.1288|0.1288	L|L	0.32530|0.32530	0.975|0.975	0.36298|0.36298	D|D	0.85683|0.85683	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.43310|0.43310	-0.9399|-0.9399	10|5	0.62326|.	D|.	0.03|.	-3.9279|-3.9279	7.933|7.933	0.29914|0.29914	0.3232:0.0:0.6768:0.0|0.3232:0.0:0.6768:0.0	.|.	1457|.	Q5QGS0|.	K2022_HUMAN|.	M|H	1457|58	ENSP00000362567:L1457M;ENSP00000055682:L1457M|.	ENSP00000055682:L1457M|.	L|P	-|-	1|2	2|0	KIAA2022|KIAA2022	73876748|73876748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.706000|4.706000	0.61845|0.61845	0.479000|0.479000	0.27511|0.27511	-0.296000|-0.296000	0.09543|0.09543	CTG|CCT		0.433	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		4	100	1	0	0.150653	1	0.152692	4	100				
UBR1	197131	broad.mit.edu	37	15	43330062	43330062	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43330062A>G	ENST00000290650.4	-	17	2009	c.1931T>C	c.(1930-1932)gTa>gCa	p.V644A	UBR1_ENST00000382177.2_Missense_Mutation_p.V644A	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	644					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTCCACTAGTACCTCTACTTG	0.418																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1930-1932)gTa>gCa		ubiquitin protein ligase E3 component n-recognin 1							89.0	74.0	79.0					15																	43330062		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43330062A>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1931T>C	15.37:g.43330062A>G	ENSP00000290650:p.Val644Ala					UBR1_ENST00000382177.2_Missense_Mutation_p.V644A	p.V644A	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	17	2009	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	644					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1931T>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284153	0.23392	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.47177	0.85;0.85	4.92	3.79	0.43588	.	0.513574	0.19509	N	0.112547	T	0.28101	0.0693	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	10	0.02654	T	1	-10.5343	10.7805	0.46376	0.9252:0.0:0.0748:0.0	.	644;644	B4DYL2;Q8IWV7	.;UBR1_HUMAN	A	644	ENSP00000290650:V644A;ENSP00000371612:V644A	ENSP00000290650:V644A	V	-	2	0	UBR1	41117354	0.997000	0.39634	0.569000	0.28460	0.964000	0.63967	4.529000	0.60588	1.005000	0.39183	0.460000	0.39030	GTA		0.418	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		9	17	0	0	0	1	0	9	17				
MC4R	4160	broad.mit.edu	37	18	58039503	58039503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039503G>A	ENST00000299766.3	-	1	498	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	27					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GGACTCACTGGCATTGCTGTG	0.532																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(79-81)gCc>gTc		melanocortin 4 receptor							65.0	63.0	63.0					18																	58039503		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039503G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.80C>T	18.37:g.58039503G>A	ENSP00000299766:p.Ala27Val						p.A27V	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	498	-		Colorectal(73;0.0946)	27					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.80C>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334175	0.41297	.	.	ENSG00000166603	ENST00000299766	T	0.33438	1.41	5.56	4.69	0.59074	.	0.541381	0.20236	N	0.096391	T	0.20047	0.0482	N	0.24115	0.695	0.40614	D	0.981708	B	0.02656	0.0	B	0.04013	0.001	T	0.05818	-1.0862	10	0.56958	D	0.05	.	7.6256	0.28210	0.0834:0.0:0.7541:0.1625	.	27	P32245	MC4R_HUMAN	V	27	ENSP00000299766:A27V	ENSP00000299766:A27V	A	-	2	0	MC4R	56190483	0.997000	0.39634	0.998000	0.56505	0.954000	0.61252	2.259000	0.43259	1.493000	0.48517	0.655000	0.94253	GCC		0.532	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		19	33	0	0	0	1	0	19	33				
PCK1	5105	broad.mit.edu	37	20	56137900	56137900	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56137900C>T	ENST00000319441.4	+	4	719	c.555C>T	c.(553-555)ggC>ggT	p.G185G	PCK1_ENST00000535860.1_Silent_p.G53G|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	185					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGCAGTGGGCGATGGGGAGT	0.502																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(553-555)ggC>ggT		phosphoenolpyruvate carboxykinase 1 (soluble)							62.0	60.0	61.0					20																	56137900		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137900C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.555C>T	20.37:g.56137900C>T						PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.G53G	p.G185G	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	719	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		185					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.555C>T	CCDS13460.1																																																																																				0.502	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			9	25	0	0	0	1	0	9	25				
HIRA	7290	broad.mit.edu	37	22	19384429	19384429	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19384429C>A	ENST00000263208.5	-	7	791	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000541063.1_Missense_Mutation_p.G135W|HIRA_ENST00000340170.4_Missense_Mutation_p.G179W|HIRA_ENST00000546308.1_Missense_Mutation_p.G135W	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	179					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CATGTCAACCCTTTGACCAAG	0.488																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(535-537)Ggg>Tgg		histone cell cycle regulator							85.0	81.0	82.0					22																	19384429		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19384429C>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.535G>T	22.37:g.19384429C>A	ENSP00000263208:p.Gly179Trp					HIRA_ENST00000546308.1_Missense_Mutation_p.G135W|HIRA_ENST00000541063.1_Missense_Mutation_p.G135W|HIRA_ENST00000340170.4_Missense_Mutation_p.G179W	p.G179W	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			7	791	-	Colorectal(54;0.0993)		179					Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.535G>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970690	0.92919	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80790	-0.1225	10	0.87932	D	0	-23.9984	19.3562	0.94414	0.0:1.0:0.0:0.0	.	135;179;179	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	W	179;179;135;135	ENSP00000345350:G179W;ENSP00000263208:G179W;ENSP00000446073:G135W;ENSP00000441870:G135W	ENSP00000263208:G179W	G	-	1	0	HIRA	17764429	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.119000	0.77145	2.804000	0.96469	0.655000	0.94253	GGG		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		7	49	1	0	5.18039e-06	1	5.91835e-06	7	49				
ZNF337	26152	broad.mit.edu	37	20	25655668	25655668	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25655668T>C	ENST00000376436.1	-	4	2795	c.2256A>G	c.(2254-2256)tgA>tgG	p.*752W	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Nonstop_Mutation_p.*720W|ZNF337_ENST00000252979.5_Nonstop_Mutation_p.*752W			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATATAACTTCAAGATGAAG	0.403																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2254-2256)tgA>tgG		zinc finger protein 337							103.0	94.0	97.0					20																	25655668		2203	4300	6503	SO:0001578	stop_lost	26152							g.chr20:25655668T>C		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.2256A>G	20.37:g.25655668T>C	ENSP00000365619:p.*752Cysext*27					ZNF337_ENST00000538750.1_Nonstop_Mutation_p.*720W|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Nonstop_Mutation_p.*752W|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA	p.*752W							4	2795	-								B4DSM2|Q9Y3Y5	Nonstop_Mutation	SNP	ENST00000376436.1	37	c.2256A>G	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	6.571	0.473743	0.12521	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	.	.	.	1.17	1.17	0.20885	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5095	0.22214	0.0:0.0:0.0:1.0	.	.	.	.	W	752;752;640;720	.	.	X	-	3	0	ZNF337	25603668	0.000000	0.05858	0.002000	0.10522	0.143000	0.21401	-0.407000	0.07178	0.793000	0.33875	0.254000	0.18369	TGA		0.403	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	45	0	0	0	1	0	7	45				
GPN2	54707	broad.mit.edu	37	1	27206198	27206198	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27206198C>A	ENST00000374135.4	-	5	1103	c.903G>T	c.(901-903)caG>caT	p.Q301H	GPN2_ENST00000374133.3_Missense_Mutation_p.Q122H|RP1-50O24.6_ENST00000448791.1_RNA	NM_018066.3	NP_060536.3			GPN-loop GTPase 2											endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCTCCACTGACTGGTTCGAGG	0.587																																						ENST00000374135.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(901-903)caG>caT		GPN-loop GTPase 2							167.0	117.0	134.0					1																	27206198		2203	4300	6503	SO:0001583	missense	54707						GTP binding	g.chr1:27206198C>A	AK001211	CCDS289.1	1p36.11	2008-04-30	2008-04-30	2008-04-30	ENSG00000142751	ENSG00000142751		"""GPN-loop GTPases"""	25513	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member B"""	ATPBD1B		12975309	Standard	NM_018066		Approved	FLJ10349	uc001bnd.1	Q9H9Y4	OTTHUMG00000004227	ENST00000374135.4:c.903G>T	1.37:g.27206198C>A	ENSP00000363250:p.Gln301His					GPN2_ENST00000374133.3_Missense_Mutation_p.Q122H	p.Q301H	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN			5	1103	-			301						Missense_Mutation	SNP	ENST00000374135.4	37	c.903G>T	CCDS289.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150562	0.37923	.	.	ENSG00000142751	ENST00000374135;ENST00000374133	T;T	0.23348	2.26;1.91	5.4	2.46	0.29980	.	0.505980	0.20339	N	0.094271	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.31869	0.137	T	0.13229	-1.0517	10	0.45353	T	0.12	-33.7748	2.6684	0.05059	0.1228:0.5106:0.1201:0.2465	.	301	Q9H9Y4	GPN2_HUMAN	H	301;122	ENSP00000363250:Q301H;ENSP00000363248:Q122H	ENSP00000363248:Q122H	Q	-	3	2	GPN2	27078785	0.020000	0.18652	0.966000	0.40874	0.987000	0.75469	-0.228000	0.09114	0.637000	0.30526	0.563000	0.77884	CAG		0.587	GPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012175.2	NM_018066		8	12	1	0	1.58986e-06	1	1.84011e-06	8	12				
NOLC1	9221	broad.mit.edu	37	10	103916958	103916958	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103916958C>T	ENST00000605788.1	+	3	424	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NOLC1_ENST00000405356.1_Silent_p.V63V|NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000488254.2_Silent_p.V64V	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	63					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGCCAAGGTCCCAGAGCGAA	0.512																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(187-189)gtC>gtT		nucleolar and coiled-body phosphoprotein 1							102.0	105.0	104.0					10																	103916958		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103916958C>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.189C>T	10.37:g.103916958C>T						NOLC1_ENST00000605788.1_Silent_p.V63V|NOLC1_ENST00000488254.2_Silent_p.V64V|NOLC1_ENST00000603742.1_Intron	p.V63V			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	3	424	+		Colorectal(252;0.122)	63					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.189C>T	CCDS7530.1																																																																																				0.512	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		32	54	0	0	0	1	0	32	54				
ANXA6	309	broad.mit.edu	37	5	150514015	150514015	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150514015G>A	ENST00000354546.5	-	8	746	c.519C>T	c.(517-519)agC>agT	p.S173S	ANXA6_ENST00000523714.1_Silent_p.S141S|ANXA6_ENST00000356496.5_Silent_p.S173S|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	173					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTCCTCGCTCACTACGT	0.562																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(517-519)agC>agT		annexin A6							177.0	181.0	180.0					5																	150514015		2008	4182	6190	SO:0001819	synonymous_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150514015G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.519C>T	5.37:g.150514015G>A						ANXA6_ENST00000523714.1_Silent_p.S141S|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Silent_p.S173S|ANXA6_ENST00000521512.1_Intron	p.S173S	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	746	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	173					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	c.519C>T	CCDS47315.1																																																																																				0.562	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		59	83	0	0	0	1	0	59	83				
GPRASP1	9737	broad.mit.edu	37	X	101911928	101911928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101911928G>A	ENST00000361600.5	+	5	3888	c.3087G>A	c.(3085-3087)acG>acA	p.T1029T	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.T1029T|GPRASP1_ENST00000444152.1_Silent_p.T1029T|GPRASP1_ENST00000537097.1_Silent_p.T1029T	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1029	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAGGTCCACGTGTTCAGTTG	0.557													G||||G|||	1|1	0.000264901|0.000264901	0.0|0.0	0.0|0.0	3775|3775	,|,	,|,		13981|13981	0.0|0.0		0.0|0.0	False|False		,,,|,,,				2504|2504	0.001|0.001					ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3085-3087)acG>acA		G protein-coupled receptor associated sorting protein 1							136.0	121.0	126.0					X																	101911928		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101911928G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3087G>A	X.37:g.101911928G>A						GPRASP1_ENST00000415986.1_Silent_p.T1029T|GPRASP1_ENST00000361600.5_Silent_p.T1029T|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.T1029T	p.T1029T	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3900	+			1029			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3087G>A	CCDS35352.1																																																																																				0.557	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		57	105	0	0	0	1	0	57	105				
PLEKHG2	64857	broad.mit.edu	37	19	39907053	39907053	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39907053G>T	ENST00000409794.3	+	5	1395	c.545G>T	c.(544-546)aGg>aTg	p.R182M	PLEKHG2_ENST00000409797.2_Splice_Site_p.R182M|PLEKHG2_ENST00000425673.1_Splice_Site_p.R182M|PLEKHG2_ENST00000378550.1_Splice_Site_p.R182M|PLEKHG2_ENST00000458508.2_Splice_Site_p.R123M	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	182	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGTGCAGAGGGTGAGTGGA	0.667																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.e5+1		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							51.0	59.0	56.0					19																	39907053		2203	4299	6502	SO:0001630	splice_region_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907053G>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.546+1G>T	19.37:g.39907053G>T						PLEKHG2_ENST00000458508.2_Splice_Site_p.R123_splice|PLEKHG2_ENST00000409794.3_Splice_Site_p.R182_splice|PLEKHG2_ENST00000409797.2_Splice_Site_p.R182_splice|PLEKHG2_ENST00000378550.1_Splice_Site_p.R182_splice	p.R182_splice			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	870	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		182			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Splice_Site	SNP	ENST00000409794.3	37	c.546_splice	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.335690|4.335690	0.81801|0.81801	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354	.|T;T;T;T;T;T	.|0.68025	.|-0.3;-0.3;-0.3;-0.3;-0.3;1.57	4.68|4.68	4.68|4.68	0.58851|0.58851	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.73567	.|0.3603	L|L	0.31578|0.31578	0.945|0.945	0.42088|0.42088	D|D	0.991285|0.991285	.|D;D;D	.|0.89917	.|1.0;0.994;0.993	.|D;D;D	.|0.87578	.|0.998;0.989;0.946	.|T	.|0.77670	.|-0.2501	.|10	.|0.87932	.|D	.|0	.|.	16.5224|16.5224	0.84320|0.84320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182;123;182	.|Q9H7P9;E7ESZ3;Q9H7P9-2	.|PKHG2_HUMAN;.;.	X|M	79|182;182;182;123;182;183	.|ENSP00000386733:R182M;ENSP00000392906:R182M;ENSP00000367812:R182M;ENSP00000408857:R123M;ENSP00000386492:R182M;ENSP00000412818:R183M	.|ENSP00000367812:R182M	G|R	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44598893|44598893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	4.943000|4.943000	0.63554|0.63554	2.452000|2.452000	0.82932|0.82932	0.491000|0.491000	0.48974|0.48974	GGA|AGG		0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	Missense_Mutation	13	76	1	0	2.27111e-07	1	2.66951e-07	13	76				
ZNF776	284309	broad.mit.edu	37	19	58264658	58264658	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58264658G>T	ENST00000317178.5	+	3	423		c.e3-1		ZNF776_ENST00000431353.1_Nonstop_Mutation_p.*59Y|AC003006.7_ENST00000594684.1_Splice_Site	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATTTCTTTTAGGTTGTTGGTA	0.408																																						ENST00000431353.1																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(175-177)taG>taT		zinc finger protein 776							108.0	110.0	110.0					19																	58264658		2203	4300	6503	SO:0001630	splice_region_variant	284309							g.chr19:58264658G>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.161-1G>T	19.37:g.58264658G>T						ZNF776_ENST00000317178.5_Splice_Site	p.*59Y						UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	395	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Nonstop_Mutation	SNP	ENST00000317178.5	37	c.177G>T	CCDS12962.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.65|11.65	1.702310|1.702310	0.30232|0.30232	.|.	.|.	ENSG00000152443|ENSG00000152443	ENST00000317178|ENST00000431353	.|.	.|.	.|.	2.08|2.08	1.01|1.01	0.19927|0.19927	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.1864|6.1864	0.20500|0.20500	0.1838:0.0:0.8162:0.0|0.1838:0.0:0.8162:0.0	.|.	.|.	.|.	.|.	.|Y	-1|59	.|.	.|.	.|X	+|+	.|3	.|2	ZNF776|ZNF776	62956470|62956470	0.022000|0.022000	0.18835|0.18835	0.160000|0.160000	0.22671|0.22671	0.736000|0.736000	0.42039|0.42039	1.656000|1.656000	0.37355|0.37355	1.151000|1.151000	0.42436|0.42436	0.313000|0.313000	0.20887|0.20887	.|TAG		0.408	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632	Intron	10	106	1	0	0.000978159	1	0.00105116	10	106				
MBD4	8930	broad.mit.edu	37	3	129156736	129156736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129156736C>T	ENST00000249910.1	-	2	337	c.162G>A	c.(160-162)atG>atA	p.M54I	IFT122_ENST00000440957.2_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.M54I|IFT122_ENST00000347300.2_5'Flank|MBD4_ENST00000509587.1_5'UTR|IFT122_ENST00000348417.2_5'Flank|IFT122_ENST00000507564.1_5'Flank|IFT122_ENST00000349441.2_5'Flank|IFT122_ENST00000296266.3_5'Flank|MBD4_ENST00000503197.1_Missense_Mutation_p.M54I|MBD4_ENST00000429544.2_Missense_Mutation_p.M54I|MBD4_ENST00000507208.1_Missense_Mutation_p.M54I|IFT122_ENST00000431818.2_5'Flank|IFT122_ENST00000504021.1_5'Flank	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	54					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTTTTTATCATCATTTGTT	0.383								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(160-162)atG>atA	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							213.0	205.0	208.0					3																	129156736		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129156736C>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.162G>A	3.37:g.129156736C>T	ENSP00000249910:p.Met54Ile					MBD4_ENST00000503197.1_Missense_Mutation_p.M54I|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000507208.1_Missense_Mutation_p.M54I|MBD4_ENST00000249910.1_Missense_Mutation_p.M54I|MBD4_ENST00000393278.2_Missense_Mutation_p.M54I	p.M54I	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			2	357	-			54					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.162G>A	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950442	0.18431	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.39	4.5	0.54988	Methyl-CpG DNA binding (1);	0.784305	0.11441	N	0.563786	T	0.25269	0.0614	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.17268	0.001;0.0;0.007;0.021;0.004	B;B;B;B;B	0.11329	0.002;0.0;0.004;0.006;0.002	T	0.14172	-1.0482	10	0.08381	T	0.77	0.4416	12.0353	0.53420	0.0:0.826:0.174:0.0	.	54;54;54;54;54	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	I	54	ENSP00000394080:M54I;ENSP00000249910:M54I;ENSP00000424873:M54I;ENSP00000376959:M54I;ENSP00000422327:M54I	ENSP00000249910:M54I	M	-	3	0	MBD4	130639426	0.064000	0.20934	0.035000	0.18076	0.939000	0.58152	1.277000	0.33167	1.240000	0.43803	0.549000	0.68633	ATG		0.383	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		59	81	0	0	0	1	0	59	81				
SLCO4A1	28231	broad.mit.edu	37	20	61292446	61292446	+	Missense_Mutation	SNP	C	C	T	rs142725476	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61292446C>T	ENST00000370507.1	+	4	1136	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.A347V			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	347					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ATGAGAGCGGCGGAAATGCAC	0.647													c|||	5	0.000998403	0.0	0.0014	5008	,	,		9933	0.0		0.001	False		,,,				2504	0.0031				Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1039-1041)gCg>gTg		solute carrier organic anion transporter family, member 4A1			VAL/ALA	0,4406		0,0,2203	76.0	70.0	72.0		1040	4.2	0.0	20	dbSNP_134	72	4,8596	3.7+/-12.6	0,4,4296	no	missense	SLCO4A1	NM_016354.3	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	347/723	61292446	4,13002	2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61292446C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1040C>T	20.37:g.61292446C>T	ENSP00000359538:p.Ala347Val					SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A347V	p.A347V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		5	1245	+	Breast(26;3.65e-08)		347					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.1040C>T	CCDS13501.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	c	10.62	1.400718	0.25291	0.0	4.65E-4	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.60424	0.19;0.19	4.25	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.659460	0.15177	N	0.276289	T	0.51669	0.1688	L	0.40543	1.245	0.09310	N	1	B	0.27498	0.18	B	0.26969	0.075	T	0.50642	-0.8804	10	0.51188	T	0.08	.	16.6873	0.85312	0.0:1.0:0.0:0.0	.	347	Q96BD0	SO4A1_HUMAN	V	347	ENSP00000217159:A347V;ENSP00000359538:A347V	ENSP00000217159:A347V	A	+	2	0	SLCO4A1	60762891	0.402000	0.25311	0.003000	0.11579	0.003000	0.03518	4.080000	0.57620	1.940000	0.56252	0.450000	0.29827	GCG		0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		24	43	0	0	0	1	0	24	43				
XIRP2	129446	broad.mit.edu	37	2	168107137	168107137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168107137A>G	ENST00000409195.1	+	9	9324	c.9235A>G	c.(9235-9237)Aca>Gca	p.T3079A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3079A|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2857A|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2904				E -> G (in Ref. 8; CAD91137). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T3079A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGAGAAAACAGTACAGCA	0.368																																						ENST00000409195.1																			1	Substitution - Missense(1)	p.T3079A(1)	large_intestine(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9235-9237)Aca>Gca		xin actin-binding repeat containing 2							81.0	78.0	79.0					2																	168107137		1893	4120	6013	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107137A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9235A>G	2.37:g.168107137A>G	ENSP00000386840:p.Thr3079Ala					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2857A|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3079A|XIRP2_ENST00000420519.1_Intron	p.T3079A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9324	+			2904	E -> G (in Ref. 8; CAD91137).				A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9235A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.015724	0.00422	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	4.84	-0.603	0.11630	.	1.018130	0.07827	N	0.960775	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	0.999997	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.47420	-0.9119	10	0.05721	T	0.95	-0.2824	4.0986	0.10004	0.5548:0.0:0.1741:0.2711	.	2904;2904;2857	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	3079;3079;2857;493	ENSP00000386840:T3079A;ENSP00000295237:T3079A;ENSP00000387255:T2857A	ENSP00000295237:T3079A	T	+	1	0	XIRP2	167815383	0.016000	0.18221	0.680000	0.29994	0.231000	0.25187	0.361000	0.20267	0.001000	0.14605	0.455000	0.32223	ACA		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		11	66	0	0	0	1	0	11	66				
PCDHA11	56138	broad.mit.edu	37	5	140250251	140250251	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250251G>A	ENST00000398640.2	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1561-1563)ccG>ccA									61.0	68.0	65.0					5																	140250251		2196	4281	6477	SO:0001819	synonymous_variant	0							g.chr5:140250251G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1563G>A	5.37:g.140250251G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.P521P	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1563	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1563G>A	CCDS47284.1																																																																																				0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		5	97	0	0	0	1	0	5	97				
MFSD2B	388931	broad.mit.edu	37	2	24247137	24247137	+	Missense_Mutation	SNP	C	C	T	rs373852333		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24247137C>T	ENST00000406420.3	+	13	1502	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MFSD2B_ENST00000338315.4_Missense_Mutation_p.R496W	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	496					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCTGAGCCTTCGGAGGTAAGC	0.652																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1486-1488)Cgg>Tgg		major facilitator superfamily domain containing 2B		C	TRP/ARG	0,4062		0,0,2031	22.0	25.0	24.0		1486	2.1	0.8	2		24	1,8345		0,1,4172	no	missense	MFSD2B	NM_001080473.1	101	0,1,6203	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	496/498	24247137	1,12407	2031	4173	6204	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24247137C>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1486C>T	2.37:g.24247137C>T	ENSP00000385527:p.Arg496Trp					MFSD2B_ENST00000406420.3_Missense_Mutation_p.R496W	p.R496W			A6NFX1	MFS2B_HUMAN			13	1486	+			496					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1486C>T	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020859	0.35606	0.0	1.2E-4	ENSG00000205639	ENST00000406420;ENST00000338315	T;T	0.23348	1.91;2.09	4.97	2.11	0.27256	.	0.667694	0.12468	U	0.466238	T	0.24890	0.0604	M	0.64404	1.975	0.25573	N	0.986879	D	0.61697	0.99	P	0.44477	0.451	T	0.21348	-1.0248	10	0.56958	D	0.05	-0.0349	3.1602	0.06517	0.1771:0.5372:0.1888:0.0969	.	496	A6NFX1	MFS2B_HUMAN	W	496	ENSP00000385527:R496W;ENSP00000342501:R496W	ENSP00000342501:R496W	R	+	1	2	MFSD2B	24100641	0.001000	0.12720	0.842000	0.33263	0.262000	0.26303	0.812000	0.27211	0.615000	0.30124	-0.521000	0.04368	CGG		0.652	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		5	4	0	0	0	1	0	5	4				
ARHGEF10L	55160	broad.mit.edu	37	1	17942691	17942691	+	Missense_Mutation	SNP	G	G	A	rs535420589		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17942691G>A	ENST00000361221.3	+	9	988	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000167825.4_5'Flank|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V277I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V35I|ARHGEF10L_ENST00000375408.3_5'Flank	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	277						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGAAGGACGTCCTCGGTGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17983	0.0		0.001	False		,,,				2504	0.0					ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(829-831)Gtc>Atc		Rho guanine nucleotide exchange factor (GEF) 10-like							84.0	69.0	74.0					1																	17942691		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17942691G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.829G>A	1.37:g.17942691G>A	ENSP00000355060:p.Val277Ile					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V35I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V277I	p.V277I	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	9	988	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	277					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.829G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805941	0.31961	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420	T;T;T;T;T	0.60797	0.5;0.53;0.32;0.53;0.16	5.19	4.28	0.50868	.	0.378429	0.25143	N	0.032808	T	0.39009	0.1062	N	0.22421	0.69	0.20074	N	0.999936	B;B;B;B;B;B	0.34313	0.127;0.32;0.097;0.32;0.441;0.448	B;B;B;B;B;B	0.31101	0.03;0.103;0.018;0.103;0.124;0.058	T	0.17107	-1.0380	10	0.25106	T	0.35	-25.4701	10.434	0.44424	0.0912:0.0:0.9088:0.0	.	35;277;43;238;238;277	B4DTE2;Q9HCE6-5;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	I	277;238;277;238;35	ENSP00000355060:V277I;ENSP00000399401:V238I;ENSP00000394621:V277I;ENSP00000364564:V238I;ENSP00000364569:V35I	ENSP00000355060:V277I	V	+	1	0	ARHGEF10L	17815278	0.011000	0.17503	0.743000	0.31040	0.946000	0.59487	1.736000	0.38187	1.178000	0.42870	0.563000	0.77884	GTC		0.637	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		6	53	0	0	0	1	0	6	53				
BMS1P20	96610	broad.mit.edu	37	22	22661985	22661985	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22661985G>T	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TTCTTTTACAGATTGGTTTTG	0.323																																						ENST00000426066.1																			0																																																			0							g.chr22:22661985G>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661985G>T								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.323	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			29	41	1	0	3.80469e-20	1	4.98859e-20	29	41				
BRD3	8019	broad.mit.edu	37	9	136906967	136906967	+	Missense_Mutation	SNP	C	C	T	rs56017928	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136906967C>T	ENST00000303407.7	-	8	1507	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000371834.2_Missense_Mutation_p.R441H|BRD3_ENST00000357885.2_Missense_Mutation_p.R441H	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	441			R -> H (in dbSNP:rs56017928). {ECO:0000269|PubMed:17344846}.		chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCACTGCTACGGCTGCTCTC	0.672			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1321-1323)cGt>cAt		bromodomain containing 3		C	HIS/ARG	0,4406		0,0,2203	35.0	34.0	34.0		1322	4.0	1.0	9	dbSNP_129	34	3,8595	3.0+/-9.4	0,3,4296	yes	missense	BRD3	NM_007371.3	29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	benign	441/727	136906967	3,13001	2203	4299	6502	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136906967C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1322G>A	9.37:g.136906967C>T	ENSP00000305918:p.Arg441His					BRD3_ENST00000357885.2_Missense_Mutation_p.R441H|BRD3_ENST00000371834.2_Missense_Mutation_p.R441H	p.R441H	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	8	1507	-			441		R -> H (in dbSNP:rs56017928).			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1322G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992879	0.35131	0.0	3.49E-4	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.39997	1.05;2.2;2.2	4.99	3.96	0.45880	.	0.230706	0.36972	N	0.002308	T	0.18383	0.0441	N	0.04959	-0.14	0.32951	D	0.519682	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07404	-1.0774	10	0.46703	T	0.11	-17.4723	3.6138	0.08070	0.0:0.6464:0.0:0.3536	rs56017928	441;441	Q15059-2;Q15059	.;BRD3_HUMAN	H	441;120;441;441	ENSP00000305918:R441H;ENSP00000360900:R441H;ENSP00000350557:R441H	ENSP00000305918:R441H	R	-	2	0	BRD3	135896788	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	1.798000	0.38814	2.305000	0.77605	0.462000	0.41574	CGT		0.672	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		5	18	0	0	0	1	0	5	18				
POU2F3	25833	broad.mit.edu	37	11	120175896	120175896	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175896G>T	ENST00000543440.2	+	7	752	c.602G>T	c.(601-603)aGg>aTg	p.R201M	POU2F3_ENST00000260264.4_Missense_Mutation_p.R203M	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	201	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCAAGCAGAGGCGCATTAAG	0.557																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(607-609)aGg>aTg		POU class 2 homeobox 3							79.0	84.0	82.0					11																	120175896		2203	4299	6502	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120175896G>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.602G>T	11.37:g.120175896G>T	ENSP00000441687:p.Arg201Met					POU2F3_ENST00000543440.2_Missense_Mutation_p.R201M	p.R203M	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	7	642	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	201			POU-specific.		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.608G>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381755	0.95967	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620	D;D;D	0.86769	-2.17;-2.17;-2.17	6.16	6.16	0.99307	POU-specific (4);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93089	0.6498	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	155;201	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	M	203;201;155	ENSP00000441687:R203M;ENSP00000260264:R201M;ENSP00000435738:R155M	ENSP00000260264:R201M	R	+	2	0	POU2F3	119681106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	AGG		0.557	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			7	79	1	0	5.18039e-06	1	5.91835e-06	7	79				
EIF5B	9669	broad.mit.edu	37	2	100013244	100013244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100013244C>T	ENST00000289371.6	+	22	3478	c.3276C>T	c.(3274-3276)tgC>tgT	p.C1092C		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1092					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TATTTCCCTGCAAGATAAAAA	0.408																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3274-3276)tgC>tgT		eukaryotic translation initiation factor 5B							114.0	110.0	111.0					2																	100013244		1836	4092	5928	SO:0001819	synonymous_variant	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100013244C>T	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3276C>T	2.37:g.100013244C>T							p.C1092C	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			22	3478	+			1092					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	c.3276C>T	CCDS42721.1																																																																																				0.408	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		8	126	0	0	0	1	0	8	126				
C5orf55	116349	broad.mit.edu	37	5	442595	442595	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:442595C>T	ENST00000408966.2	-	1	663	c.343G>A	c.(343-345)Gca>Aca	p.A115T	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	115						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CGGCCCTCTGCAGCGCGGCCC	0.642																																						ENST00000408966.2																			0				large_intestine(1)|lung(2)	3						c.(343-345)Gca>Aca		chromosome 5 open reading frame 55							32.0	35.0	34.0					5																	442595		1917	4121	6038	SO:0001583	missense	116349					extracellular region		g.chr5:442595C>T	BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.343G>A	5.37:g.442595C>T	ENSP00000386139:p.Ala115Thr						p.A115T	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN			1	663	-			115					Q96CR9	Missense_Mutation	SNP	ENST00000408966.2	37	c.343G>A	CCDS43298.1	.	.	.	.	.	.	.	.	.	.	C	7.713	0.695644	0.15106	.	.	ENSG00000221990	ENST00000408966	T	0.38722	1.12	0.849	-0.834	0.10779	.	.	.	.	.	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B	0.26845	0.161	B	0.17979	0.02	T	0.15235	-1.0444	9	0.87932	D	0	.	4.9911	0.14214	0.0:0.4902:0.5098:0.0	.	115	Q8N2X6	CE055_HUMAN	T	115	ENSP00000386139:A115T	ENSP00000386139:A115T	A	-	1	0	C5orf55	495595	0.010000	0.17322	0.002000	0.10522	0.404000	0.30871	0.008000	0.13197	-0.324000	0.08589	0.205000	0.17691	GCA		0.642	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		5	48	0	0	0	1	0	5	48				
PLXNB2	23654	broad.mit.edu	37	22	50727510	50727510	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50727510T>A	ENST00000449103.1	-	4	1270	c.1130A>T	c.(1129-1131)gAc>gTc	p.D377V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D377V|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	377	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGAGCCCGTCGCGGCTGCC	0.672																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1129-1131)gAc>gTc		plexin B2							14.0	17.0	16.0					22																	50727510		2026	4181	6207	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50727510T>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1130A>T	22.37:g.50727510T>A	ENSP00000409171:p.Asp377Val					PLXNB2_ENST00000359337.4_Missense_Mutation_p.D377V	p.D377V			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	1270	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	377			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1130A>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	6.214	0.407682	0.11754	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000411680;ENST00000432455	T;T;T;T	0.10573	2.86;2.86;3.64;2.86	4.28	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.112744	0.39146	N	0.001448	T	0.08223	0.0205	N	0.20685	0.6	0.36662	D	0.878001	B	0.11235	0.004	B	0.20384	0.029	T	0.23547	-1.0185	10	0.28530	T	0.3	.	13.8591	0.63548	0.0:0.0:0.0:1.0	.	377	O15031	PLXB2_HUMAN	V	377;377;377;36;377	ENSP00000409171:D377V;ENSP00000352288:D377V;ENSP00000400679:D36V;ENSP00000392620:D377V	ENSP00000352288:D377V	D	-	2	0	PLXNB2	49069637	0.012000	0.17670	0.215000	0.23724	0.272000	0.26649	2.136000	0.42121	1.928000	0.55862	0.459000	0.35465	GAC		0.672	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	16	0	0	0	1	0	4	16				
KMT2C	58508	broad.mit.edu	37	7	151873659	151873659	+	Missense_Mutation	SNP	G	G	A	rs142287778		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151873659G>A	ENST00000262189.6	-	38	9097	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2960L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2960					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACGGCCAGGCGGTGCTATGAA	0.498																																						ENST00000355193.2																			0											c.(8878-8880)cCg>cTg		lysine (K)-specific methyltransferase 2C		G	LEU/PRO	0,4406		0,0,2203	45.0	49.0	47.0		8879	5.2	0.6	7	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLL3	NM_170606.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2960/4912	151873659	1,13005	2203	4300	6503	SO:0001583	missense	58508							g.chr7:151873659G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8879C>T	7.37:g.151873659G>A	ENSP00000262189:p.Pro2960Leu					KMT2C_ENST00000262189.6_Missense_Mutation_p.P2960L	p.P2960L							38	9097	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8879C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736000	0.30774	0.0	1.16E-4	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84070	-1.8;-1.79	5.25	5.25	0.73442	.	0.000000	0.46145	D	0.000303	D	0.85531	0.5718	L	0.34521	1.04	0.80722	D	1	D;D;P	0.89917	0.993;1.0;0.938	P;D;B	0.66847	0.632;0.947;0.386	T	0.83086	-0.0135	10	0.25106	T	0.35	.	17.0478	0.86509	0.0:0.0:1.0:0.0	.	2960;2021;2960	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	L	2960	ENSP00000262189:P2960L;ENSP00000347325:P2960L	ENSP00000262189:P2960L	P	-	2	0	MLL3	151504592	1.000000	0.71417	0.634000	0.29324	0.727000	0.41649	7.408000	0.80041	2.444000	0.82710	0.655000	0.94253	CCG		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			24	17	0	0	0	1	0	24	17				
GALNT12	79695	broad.mit.edu	37	9	101599426	101599426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101599426G>A	ENST00000375011.3	+	6	1208	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	403					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCCCGTGCCCGCTTGGTGAGT	0.532																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1207-1209)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							124.0	121.0	122.0					9																	101599426		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101599426G>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1208G>A	9.37:g.101599426G>A	ENSP00000364150:p.Arg403His						p.R403H	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			6	1208	+		Acute lymphoblastic leukemia(62;0.0559)	403					Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1208G>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208666	0.95069	.	.	ENSG00000119514	ENST00000375011	T	0.71341	-0.56	5.73	5.73	0.89815	.	0.051875	0.85682	D	0.000000	D	0.84701	0.5530	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85853	0.1405	10	0.72032	D	0.01	.	17.3963	0.87446	0.0:0.0:1.0:0.0	.	403	Q8IXK2	GLT12_HUMAN	H	403	ENSP00000364150:R403H	ENSP00000364150:R403H	R	+	2	0	GALNT12	100639247	1.000000	0.71417	0.959000	0.39883	0.842000	0.47809	9.624000	0.98398	2.722000	0.93159	0.655000	0.94253	CGC		0.532	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		48	60	0	0	0	1	0	48	60				
FBXO6	26270	broad.mit.edu	37	1	11733671	11733671	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733671G>T	ENST00000376753.4	+	6	780		c.e6-1			NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6						DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCAACAGGTCTCCTACA	0.642																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.e6-1		F-box protein 6							79.0	77.0	78.0					1																	11733671		2203	4300	6503	SO:0001630	splice_region_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733671G>T	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.646-1G>T	1.37:g.11733671G>T								NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	780	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)						B1AK42|B2RC88|Q9UKT3	Splice_Site	SNP	ENST00000376753.4	37		CCDS133.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757994	0.69648	.	.	ENSG00000116663	ENST00000376753;ENST00000449067	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5806	0.84714	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO6	11656258	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.212000	0.77941	2.703000	0.92315	0.561000	0.74099	.		0.642	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438	Intron	7	71	1	0	2.7689e-08	1	3.31013e-08	7	71				
ZNF101	94039	broad.mit.edu	37	19	19790898	19790898	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19790898A>C	ENST00000592502.1	+	4	1210	c.1100A>C	c.(1099-1101)gAa>gCa	p.E367A	ZNF101_ENST00000415784.2_Missense_Mutation_p.E247A			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E367V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AAGCCATATGAATGTACAAGG	0.388																																						ENST00000592502.1																			1	Substitution - Missense(1)	p.E367V(1)	breast(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(1099-1101)gAa>gCa		zinc finger protein 101							80.0	79.0	79.0					19																	19790898		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790898A>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1100A>C	19.37:g.19790898A>C	ENSP00000468049:p.Glu367Ala					ZNF101_ENST00000415784.2_Missense_Mutation_p.E247A	p.E367A			Q8IZC7	ZN101_HUMAN			4	1210	+			367					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.1100A>C	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	9.641	1.138957	0.21123	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.21932	1.98;1.98	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12774	0.0310	L	0.41079	1.255	0.09310	N	1	B	0.29909	0.261	B	0.23716	0.048	T	0.26155	-1.0111	8	.	.	.	.	3.0351	0.06119	0.5244:0.4753:1.0E-4:2.0E-4	.	367	Q8IZC7	ZN101_HUMAN	A	367;367;247	ENSP00000319716:E367A;ENSP00000400952:E247A	.	E	+	2	0	ZNF101	19651898	0.000000	0.05858	0.430000	0.26722	0.430000	0.31655	0.118000	0.15605	0.263000	0.21812	0.260000	0.18958	GAA		0.388	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		3	55	0	0	0	1	0	3	55				
WDR35	57539	broad.mit.edu	37	2	20160376	20160376	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20160376C>A	ENST00000345530.3	-	12	1343		c.e12-1		WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Splice_Site	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35						cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTACAAACTGTGAACAAA	0.289																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.e12-1		WD repeat domain 35							60.0	60.0	60.0					2																	20160376		2198	4285	6483	SO:0001630	splice_region_variant	57539							g.chr2:20160376C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1228-1G>T	2.37:g.20160376C>A						WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Splice_Site		NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			12	1343	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B3KVI5|Q4ZG01|Q8NE11	Splice_Site	SNP	ENST00000345530.3	37		CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603558	0.87157	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1694	0.93570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR35	20023857	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.371000	0.79600	2.777000	0.95525	0.591000	0.81541	.		0.289	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	Intron	12	27	1	0	4.93089e-13	1	6.23885e-13	12	27				
RP1	6101	broad.mit.edu	37	8	55539476	55539476	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55539476C>A	ENST00000220676.1	+	4	3182	c.3034C>A	c.(3034-3036)Ctg>Atg	p.L1012M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1012					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTGGATCTCTGAATGATGC	0.388																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3034-3036)Ctg>Atg		retinitis pigmentosa 1 (autosomal dominant)							211.0	228.0	222.0					8																	55539476		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539476C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3034C>A	8.37:g.55539476C>A	ENSP00000220676:p.Leu1012Met						p.L1012M	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3182	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1012						Missense_Mutation	SNP	ENST00000220676.1	37	c.3034C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441716	0.43326	.	.	ENSG00000104237	ENST00000220676	T	0.23754	1.89	5.38	0.205	0.15204	.	0.175880	0.27504	N	0.019080	T	0.27134	0.0665	M	0.64997	1.995	0.24577	N	0.993896	D	0.58620	0.983	P	0.51016	0.656	T	0.18999	-1.0319	10	0.72032	D	0.01	.	1.0169	0.01509	0.2209:0.3512:0.1113:0.3165	.	1012	P56715	RP1_HUMAN	M	1012	ENSP00000220676:L1012M	ENSP00000220676:L1012M	L	+	1	2	RP1	55702029	0.828000	0.29307	0.875000	0.34327	0.755000	0.42902	-0.021000	0.12504	0.011000	0.14865	-0.768000	0.03414	CTG		0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		84	183	1	0	2.99311e-26	1	3.98638e-26	84	183				
ZNF529	57711	broad.mit.edu	37	19	37038801	37038801	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038801A>C	ENST00000591340.1	-	5	817	c.659T>G	c.(658-660)aTt>aGt	p.I220S	ZNF529_ENST00000334116.7_Missense_Mutation_p.I115S	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					ACCAGTATGAATATTCAGTTG	0.294																																						ENST00000334116.7																			0				breast(1)	1						c.(343-345)aTt>aGt		zinc finger protein 529							62.0	57.0	59.0					19																	37038801		1821	4078	5899	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038801A>C	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.659T>G	19.37:g.37038801A>C	ENSP00000465578:p.Ile220Ser					ZNF529_ENST00000591340.1_Missense_Mutation_p.I220S	p.I115S	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN			6	954	-	Esophageal squamous(110;0.198)		187					K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.344T>G	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.491489	0.64074	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.68	1.9	0.25705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29158	0.0725	L	0.42529	1.33	0.25768	N	0.984863	P;P	0.38677	0.642;0.51	B;B	0.37888	0.26;0.133	T	0.14392	-1.0474	8	0.66056	D	0.02	.	6.7785	0.23632	0.8129:0.0:0.1871:0.0	.	115;187	Q6P280-2;Q6P280	.;ZN529_HUMAN	S	220	.	ENSP00000334695:I220S	I	-	2	0	ZNF529	41730641	.	.	0.003000	0.11579	0.987000	0.75469	.	.	0.165000	0.19558	0.482000	0.46254	ATT		0.294	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		10	24	0	0	0	1	0	10	24				
GAA	2548	broad.mit.edu	37	17	78083763	78083763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78083763C>T	ENST00000302262.3	+	9	1565	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	GAA_ENST00000390015.3_Missense_Mutation_p.S449L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	449					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ATCAGCAGCTCGGGCCCTGCC	0.647																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1345-1347)tCg>tTg		glucosidase, alpha; acid	Acarbose(DB00284)						41.0	46.0	44.0					17																	78083763		2203	4300	6503	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78083763C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1346C>T	17.37:g.78083763C>T	ENSP00000305692:p.Ser449Leu					GAA_ENST00000390015.3_Missense_Mutation_p.S449L	p.S449L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1565	+	all_neural(118;0.117)		449					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.1346C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962516	0.53400	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93076	-3.16;-3.16	5.15	3.1	0.35709	Glycoside hydrolase, superfamily (1);	0.398632	0.27906	N	0.017375	D	0.90865	0.7130	L	0.43757	1.38	0.24930	N	0.99193	P	0.44627	0.839	P	0.46253	0.509	D	0.83786	0.0228	10	0.49607	T	0.09	-7.9651	10.3224	0.43773	0.0:0.7895:0.1356:0.0749	.	449	P10253	LYAG_HUMAN	L	449	ENSP00000305692:S449L;ENSP00000374665:S449L	ENSP00000305692:S449L	S	+	2	0	GAA	75698358	0.301000	0.24444	0.039000	0.18376	0.158000	0.22134	4.526000	0.60566	0.534000	0.28695	-0.150000	0.13652	TCG		0.647	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			28	44	0	0	0	1	0	28	44				
HEPHL1	341208	broad.mit.edu	37	11	93796882	93796882	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93796882G>T	ENST00000315765.9	+	3	632	c.624G>T	c.(622-624)aaG>aaT	p.K208N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	208					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGTCTGCAAGGAAGGTAAGG	0.517																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(622-624)aaG>aaT		hephaestin-like 1							87.0	86.0	86.0					11																	93796882		1932	4124	6056	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796882G>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.624G>T	11.37:g.93796882G>T	ENSP00000313699:p.Lys208Asn						p.K208N	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			3	632	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	208					Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.624G>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520182	0.44866	.	.	ENSG00000181333	ENST00000315765	D	0.99005	-5.32	5.13	-0.83	0.10792	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	M	0.82823	2.61	0.41505	D	0.988307	D	0.89917	1.0	D	0.87578	0.998	D	0.98708	1.0703	10	0.56958	D	0.05	.	10.8245	0.46625	0.5583:0.0:0.4417:0.0	.	208	Q6MZM0	HPHL1_HUMAN	N	208	ENSP00000313699:K208N	ENSP00000313699:K208N	K	+	3	2	HEPHL1	93436530	1.000000	0.71417	0.968000	0.41197	0.280000	0.26924	0.955000	0.29188	-0.046000	0.13446	0.655000	0.94253	AAG		0.517	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		4	85	1	0	0.000602214	1	0.000649039	4	85				
SLC40A1	30061	broad.mit.edu	37	2	190428487	190428487	+	Nonsense_Mutation	SNP	G	G	A	rs370435973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190428487G>A	ENST00000261024.2	-	7	1651	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	409					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACCTTGATCGGATATCTTCA	0.408																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1225-1227)Cga>Tga		solute carrier family 40 (iron-regulated transporter), member 1							90.0	91.0	91.0					2																	190428487		2203	4300	6503	SO:0001587	stop_gained	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428487G>A	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1225C>T	2.37:g.190428487G>A	ENSP00000261024:p.Arg409*						p.R409*	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1651	-			409					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Nonsense_Mutation	SNP	ENST00000261024.2	37	c.1225C>T	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	41	8.625977	0.98890	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	.	.	.	6.02	4.08	0.47627	.	0.361261	0.36200	N	0.002727	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.5288	4.6415	0.12550	0.0778:0.1109:0.5626:0.2487	.	.	.	.	X	409;144	.	ENSP00000261024:R409X	R	-	1	2	SLC40A1	190136732	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	2.249000	0.43169	2.857000	0.98124	0.650000	0.86243	CGA		0.408	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			28	38	0	0	0	1	0	28	38				
NAV3	89795	broad.mit.edu	37	12	78591117	78591117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78591117C>A	ENST00000397909.2	+	35	6555	c.6382C>A	c.(6382-6384)Ctt>Att	p.L2128I	NAV3_ENST00000266692.7_Missense_Mutation_p.L1929I|NAV3_ENST00000536525.2_Missense_Mutation_p.L2106I|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000228327.6_Missense_Mutation_p.L2106I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2128						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L2106V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTGATAATCTTCATCATGT	0.333										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.L2106V(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6382-6384)Ctt>Att		neuron navigator 3							127.0	116.0	119.0					12																	78591117		1831	4081	5912	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78591117C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6382C>A	12.37:g.78591117C>A	ENSP00000381007:p.Leu2128Ile	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.L2106I|NAV3_ENST00000228327.6_Missense_Mutation_p.L2106I|NAV3_ENST00000266692.7_Missense_Mutation_p.L1929I	p.L2128I			Q8IVL0	NAV3_HUMAN			35	6555	+			2128					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6382C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.533949|4.533949	0.85812|0.85812	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.86164|.	-2.08;-2.08;-2.08;-2.08;-2.08|.	5.35|5.35	5.35|5.35	0.76521|0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.36167|.	U|.	0.002750|.	T|T	0.54224|0.54224	0.1845|0.1845	N|N	0.17723|0.17723	0.515|0.515	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.996;1.0;0.998|.	D;D;D;D|.	0.91635|.	0.999;0.986;0.999;0.996|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|5	0.35671|.	T|.	0.21|.	-12.651|-12.651	19.4322|19.4322	0.94775|0.94775	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2106;1929;2128;2106|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	I|Y	2106;2128;2106;1929;720;728|1000	ENSP00000446132:L2106I;ENSP00000381007:L2128I;ENSP00000228327:L2106I;ENSP00000266692:L1929I;ENSP00000448303:L728I|.	ENSP00000228327:L2106I|.	L|S	+|+	1|2	0|0	NAV3|NAV3	77115248|77115248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.776000|7.776000	0.85560|0.85560	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		17	31	1	0	9.16793e-09	1	1.10245e-08	17	31				
FAM24B	196792	broad.mit.edu	37	10	124609946	124609946	+	Missense_Mutation	SNP	G	G	A	rs139313059		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124609946G>A	ENST00000368898.3	-	3	376	c.86C>T	c.(85-87)gCg>gTg	p.A29V	CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000462859.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.A29V	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	29						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		TCACTTTAGCGCGTTGTGTAT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21137	0.0		0.0	False		,,,				2504	0.001					ENST00000368898.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(85-87)gCg>gTg		family with sequence similarity 24, member B		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	195.0	187.0	190.0		86,86	1.0	0.0	10	dbSNP_134	190	0,8600		0,0,4300	no	missense,missense	FAM24B	NM_001204364.1,NM_152644.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	29/95,29/95	124609946	1,13005	2203	4300	6503	SO:0001583	missense	196792					extracellular region		g.chr10:124609946G>A	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.86C>T	10.37:g.124609946G>A	ENSP00000357894:p.Ala29Val					FAM24B_ENST00000462859.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.A29V|CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR	p.A29V	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)	3	376	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	29					Q5JPG1	Missense_Mutation	SNP	ENST00000368898.3	37	c.86C>T	CCDS31303.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354654	0.41700	2.27E-4	0.0	ENSG00000213185	ENST00000368898;ENST00000368896	T;T	0.57595	0.39;0.39	2.84	0.965	0.19661	.	0.691444	0.11889	U	0.519800	T	0.35508	0.0934	.	.	.	0.09310	N	1	P	0.36065	0.535	B	0.30855	0.121	T	0.22906	-1.0203	9	0.66056	D	0.02	.	4.8145	0.13360	0.2991:0.0:0.7009:0.0	.	29	Q8N5W8	FA24B_HUMAN	V	29	ENSP00000357894:A29V;ENSP00000357892:A29V	ENSP00000357892:A29V	A	-	2	0	FAM24B	124599936	0.028000	0.19301	0.000000	0.03702	0.016000	0.09150	2.028000	0.41088	0.269000	0.21961	0.467000	0.42956	GCG		0.473	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644		22	31	0	0	0	1	0	22	31				
MYO9B	4650	broad.mit.edu	37	19	17212988	17212988	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17212988T>C	ENST00000594824.1	+	2	608	c.461T>C	c.(460-462)cTc>cCc	p.L154P	MYO9B_ENST00000595618.1_Missense_Mutation_p.L154P|CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.L154P			Q13459	MYO9B_HUMAN	myosin IXB	154	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGTGTAACCTCCCCGAGCTA	0.617																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(460-462)cTc>cCc		myosin IXB							80.0	81.0	81.0					19																	17212988		2027	4194	6221	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212988T>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.461T>C	19.37:g.17212988T>C	ENSP00000471367:p.Leu154Pro					MYO9B_ENST00000397274.2_Missense_Mutation_p.L154P|MYO9B_ENST00000594824.1_Missense_Mutation_p.L154P	p.L154P	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	613	+			154			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.461T>C		.	.	.	.	.	.	.	.	.	.	T	21.7	4.192484	0.78902	.	.	ENSG00000099331	ENST00000397274	D	0.85773	-2.03	5.62	5.62	0.85841	Myosin head, motor domain (2);	0.164288	0.28828	N	0.014017	D	0.95023	0.8389	H	0.97023	3.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.992	D	0.96538	0.9398	10	0.87932	D	0	.	14.9832	0.71327	0.0:0.0:0.0:1.0	.	154;154;160	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	P	154	ENSP00000380444:L154P	ENSP00000380444:L154P	L	+	2	0	MYO9B	17073988	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	7.735000	0.84939	2.135000	0.66039	0.533000	0.62120	CTC		0.617	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			24	43	0	0	0	1	0	24	43				
ITGA7	3679	broad.mit.edu	37	12	56092276	56092276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56092276C>A	ENST00000555728.1	-	8	1243	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	ITGA7_ENST00000257879.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Q361H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000257880.7_Missense_Mutation_p.Q405H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Q268H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Q365H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Q365H			Q13683	ITA7_HUMAN	integrin, alpha 7	405					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTGACCCCCCTGGTTCAAGT	0.607																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1213-1215)caG>caT		integrin, alpha 7							64.0	74.0	70.0					12																	56092276		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092276C>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1215G>T	12.37:g.56092276C>A	ENSP00000452387:p.Gln405His					ITGA7_ENST00000553804.1_Missense_Mutation_p.Q365H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Q268H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Q365H|ITGA7_ENST00000555728.1_Missense_Mutation_p.Q405H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Q361H	p.Q405H			Q13683	ITA7_HUMAN			8	1434	-			405					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1215G>T		.	.	.	.	.	.	.	.	.	.	C	16.04	3.010227	0.54361	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	4.72	2.88	0.33553	.	0.473166	0.19988	N	0.101624	T	0.72399	0.3455	M	0.68952	2.095	0.36775	D	0.884007	P;B;P;P	0.37663	0.58;0.349;0.481;0.604	P;P;P;B	0.45856	0.482;0.469;0.495;0.429	T	0.75144	-0.3421	10	0.62326	D	0.03	.	8.9933	0.36037	0.0:0.816:0.0:0.184	.	268;405;365;424	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	365;361;361;268;405;365;361;405;405	ENSP00000452120:Q365H;ENSP00000257879:Q361H;ENSP00000343009:Q361H;ENSP00000393844:Q268H;ENSP00000257880:Q405H;ENSP00000377777:Q365H;ENSP00000377776:Q361H;ENSP00000452387:Q405H	ENSP00000257879:Q361H	Q	-	3	2	ITGA7	54378543	0.000000	0.05858	1.000000	0.80357	0.846000	0.48090	-1.307000	0.02733	0.535000	0.28714	0.561000	0.74099	CAG		0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		22	31	1	0	0.00229938	1	0.00244063	22	31				
ROBO1	6091	broad.mit.edu	37	3	78708951	78708951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78708951C>A	ENST00000464233.1	-	17	2440	c.2327G>T	c.(2326-2328)aGt>aTt	p.S776I	ROBO1_ENST00000495273.1_Missense_Mutation_p.S740I|ROBO1_ENST00000467549.1_Missense_Mutation_p.S740I|ROBO1_ENST00000436010.2_Missense_Mutation_p.S737I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	776					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGTGGGGCACTGGGTGCTAT	0.383																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2209-2211)aGt>aTt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							51.0	51.0	51.0					3																	78708951		1835	4089	5924	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78708951C>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2327G>T	3.37:g.78708951C>A	ENSP00000420321:p.Ser776Ile					ROBO1_ENST00000495273.1_Missense_Mutation_p.S740I|ROBO1_ENST00000467549.1_Missense_Mutation_p.S740I|ROBO1_ENST00000464233.1_Missense_Mutation_p.S776I	p.S737I			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	15	3207	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	776			Fibronectin type-III 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2210G>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991783	0.93106	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.214512	0.56097	D	0.000030	T	0.78916	0.4359	M	0.92738	3.34	0.80722	D	1	D;P;P;P;B	0.64830	0.994;0.637;0.953;0.708;0.004	P;B;P;P;B	0.61328	0.837;0.431;0.887;0.723;0.031	T	0.82697	-0.0329	9	.	.	.	.	20.3719	0.98893	0.0:1.0:0.0:0.0	.	740;776;740;740;737	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	I	737;740;776;740;740;780	ENSP00000406043:S737I;ENSP00000420321:S776I;ENSP00000420637:S740I;ENSP00000417992:S740I	.	S	-	2	0	ROBO1	78791641	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.456000	0.80751	2.826000	0.97356	0.491000	0.48974	AGT		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		3	4	1	0	0.115264	1	0.117355	3	4				
RBFOX1	54715	broad.mit.edu	37	16	7568366	7568366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:7568366C>T	ENST00000550418.1	+	5	1233	c.245C>T	c.(244-246)gCt>gTt	p.A82V	RBFOX1_ENST00000547338.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A125V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A118V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A87V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A102V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A102V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A118V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A102V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A125V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	82					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GACACGAGCGCTCAGACCGTC	0.657																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(259-261)gCt>gTt		RNA binding protein, fox-1 homolog (C. elegans) 1							79.0	77.0	78.0					16																	7568366		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568366C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.245C>T	16.37:g.7568366C>T	ENSP00000450031:p.Ala82Val					RBFOX1_ENST00000422070.4_Missense_Mutation_p.A125V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A118V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A102V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A102V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A125V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A118V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A102V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A82V	p.A87V			Q9NWB1	RFOX1_HUMAN			2	557	+			82					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.260C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193100	0.38707	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.85;1.35;1.68;1.61;1.63;1.74;1.35;1.47;1.65;1.64;1.35	4.67	4.67	0.58626	.	0.228496	0.37809	N	0.001921	T	0.27419	0.0673	N	0.08118	0	0.41598	D	0.988833	B;P;P;P;B;P;B;B;P	0.42941	0.136;0.794;0.518;0.51;0.185;0.708;0.023;0.024;0.567	B;B;B;B;B;B;B;B;P	0.44696	0.077;0.31;0.071;0.149;0.132;0.294;0.033;0.043;0.458	T	0.21999	-1.0229	10	0.44086	T	0.13	-6.7002	17.5929	0.88003	0.0:1.0:0.0:0.0	.	102;118;125;102;102;102;82;82;125	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	82;82;82;125;125;118;118;82;82;102;102;102;102;87	ENSP00000450402:A82V;ENSP00000450031:A82V;ENSP00000447753:A82V;ENSP00000446842:A125V;ENSP00000391269:A125V;ENSP00000447281:A82V;ENSP00000447717:A82V;ENSP00000402745:A102V;ENSP00000309117:A102V;ENSP00000347855:A102V;ENSP00000344196:A87V	ENSP00000309117:A102V	A	+	2	0	RBFOX1	7508367	1.000000	0.71417	0.985000	0.45067	0.055000	0.15305	5.271000	0.65553	2.129000	0.65627	0.557000	0.71058	GCT		0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		35	61	0	0	0	1	0	35	61				
DPM1	8813	broad.mit.edu	37	20	49551717	49551717	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49551717T>A	ENST00000371588.5	-	9	761	c.735A>T	c.(733-735)gaA>gaT	p.E245D	DPM1_ENST00000371582.4_Missense_Mutation_p.E272D|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Missense_Mutation_p.E240D	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	245					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AAGATACTATTTCATTTCCTC	0.284																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(814-816)gaA>gaT		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							88.0	96.0	93.0					20																	49551717		2203	4298	6501	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49551717T>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.735A>T	20.37:g.49551717T>A	ENSP00000360644:p.Glu245Asp					DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.E240D|DPM1_ENST00000371588.5_Missense_Mutation_p.E245D	p.E272D			O60762	DPM1_HUMAN			10	847	-			245					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.816A>T	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.23|15.23	2.770969|2.770969	0.49680|0.49680	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583|ENST00000371584	D;D;D|.	0.86956|.	-2.13;-2.19;-2.13|.	5.55|5.55	3.29|3.29	0.37713|0.37713	.|.	0.104930|.	0.64402|.	D|.	0.000006|.	T|T	0.59155|0.59155	0.2173|0.2173	L|L	0.58510|0.58510	1.815|1.815	0.51233|0.51233	D|D	0.999917|0.999917	P;P|.	0.42409|.	0.779;0.757|.	P;P|.	0.45558|.	0.452;0.485|.	T|T	0.52351|0.52351	-0.8587|-0.8587	9|5	.|.	.|.	.|.	-25.9141|-25.9141	7.9286|7.9286	0.29889|0.29889	0.0:0.2276:0.0:0.7724|0.0:0.2276:0.0:0.7724	.|.	245;280|.	O60762;E9PBD4|.	DPM1_HUMAN;.|.	D|Y	245;272;280;240|280	ENSP00000360644:E245D;ENSP00000360638:E272D;ENSP00000360639:E240D|.	.|.	E|N	-|-	3|1	2|0	DPM1|DPM1	48985124|48985124	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.305000|0.305000	0.27757|0.27757	2.925000|2.925000	0.48884|0.48884	0.404000|0.404000	0.25506|0.25506	0.454000|0.454000	0.30748|0.30748	GAA|AAT		0.284	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		6	85	0	0	0	1	0	6	85				
TTF2	8458	broad.mit.edu	37	1	117626696	117626696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117626696C>T	ENST00000369466.4	+	11	2004	c.1960C>T	c.(1960-1962)Cat>Tat	p.H654Y		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	654	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTCCCTGATCCATCATTGGAA	0.443																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1960-1962)Cat>Tat		transcription termination factor, RNA polymerase II							193.0	170.0	178.0					1																	117626696		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117626696C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1960C>T	1.37:g.117626696C>T	ENSP00000358478:p.His654Tyr						p.H654Y	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	11	2004	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	654			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1960C>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949845	0.92660	.	.	ENSG00000116830	ENST00000369466	D	0.93426	-3.22	6.02	6.02	0.97574	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.40728	N	0.001040	D	0.93019	0.7778	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91594	0.5289	10	0.30854	T	0.27	-20.1036	18.0346	0.89296	0.0:1.0:0.0:0.0	.	654	Q9UNY4	TTF2_HUMAN	Y	654	ENSP00000358478:H654Y	ENSP00000358478:H654Y	H	+	1	0	TTF2	117428219	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.355000	0.79434	2.865000	0.98341	0.655000	0.94253	CAT		0.443	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			8	93	0	0	0	1	0	8	93				
MKL1	57591	broad.mit.edu	37	22	40825629	40825629	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40825629G>A	ENST00000355630.3	-	7	872	c.282C>T	c.(280-282)agC>agT	p.S94S	MKL1_ENST00000402042.1_Silent_p.S94S|MKL1_ENST00000407029.1_Silent_p.S94S|MKL1_ENST00000402630.1_Silent_p.S94S|MKL1_ENST00000396617.3_Silent_p.S94S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	94	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTTCCTTCAGGCTGGACTCAA	0.572			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(280-282)agC>agT		megakaryoblastic leukemia (translocation) 1							105.0	94.0	97.0					22																	40825629		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40825629G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.282C>T	22.37:g.40825629G>A						MKL1_ENST00000407029.1_Silent_p.S94S|MKL1_ENST00000355630.3_Silent_p.S94S|MKL1_ENST00000402630.1_Silent_p.S94S|MKL1_ENST00000402042.1_Silent_p.S94S	p.S94S			Q969V6	MKL1_HUMAN			7	872	-			94			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.282C>T	CCDS14003.1																																																																																				0.572	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		19	22	0	0	0	1	0	19	22				
LRP1	4035	broad.mit.edu	37	12	57570895	57570895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57570895G>A	ENST00000243077.3	+	25	4529	c.4063G>A	c.(4063-4065)Gca>Aca	p.A1355T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1355					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGACTGGATTGCAGGCAACAT	0.582																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4063-4065)Gca>Aca		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						155.0	128.0	137.0					12																	57570895		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57570895G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4063G>A	12.37:g.57570895G>A	ENSP00000243077:p.Ala1355Thr						p.A1355T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	25	4529	+			1355					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4063G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274147	0.80580	.	.	ENSG00000123384	ENST00000243077	D	0.93547	-3.24	5.0	5.0	0.66597	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93229	0.7843	L	0.46819	1.47	0.80722	D	1	D	0.61080	0.989	P	0.58331	0.837	D	0.89858	0.4014	10	0.05620	T	0.96	.	17.2315	0.86985	0.0:0.0:1.0:0.0	.	1355	Q07954	LRP1_HUMAN	T	1355	ENSP00000243077:A1355T	ENSP00000243077:A1355T	A	+	1	0	LRP1	55857162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.648000	0.98483	2.602000	0.87976	0.462000	0.41574	GCA		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	72	0	0	0	1	0	5	72				
DHCR24	1718	broad.mit.edu	37	1	55340771	55340771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55340771T>C	ENST00000371269.3	-	4	705	c.607A>G	c.(607-609)Act>Gct	p.T203A	DHCR24_ENST00000535035.1_Missense_Mutation_p.T162A|DHCR24_ENST00000537443.1_Missense_Mutation_p.T35A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	203	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CTCACCGGAGTGCATCGCACA	0.567																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(607-609)Act>Gct		24-dehydrocholesterol reductase							147.0	104.0	119.0					1																	55340771		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55340771T>C	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.607A>G	1.37:g.55340771T>C	ENSP00000360316:p.Thr203Ala					DHCR24_ENST00000535035.1_Missense_Mutation_p.T162A|DHCR24_ENST00000537443.1_Missense_Mutation_p.T35A	p.T203A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			4	705	-			203			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.607A>G	CCDS600.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387011	0.42308	.	.	ENSG00000116133	ENST00000371269;ENST00000537443;ENST00000535035	D;D;D	0.85773	-2.03;-2.03;-2.03	5.56	4.37	0.52481	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.192874	0.52532	D	0.000068	T	0.81039	0.4740	L	0.52011	1.625	0.80722	D	1	B;B;B	0.25206	0.005;0.12;0.002	B;B;B	0.27076	0.032;0.076;0.006	T	0.78952	-0.2001	10	0.45353	T	0.12	-10.6226	11.7024	0.51579	0.2154:0.0:0.0:0.7846	.	162;162;203	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	A	203;35;162	ENSP00000360316:T203A;ENSP00000439852:T35A;ENSP00000440191:T162A	ENSP00000360316:T203A	T	-	1	0	DHCR24	55113359	1.000000	0.71417	0.993000	0.49108	0.839000	0.47603	1.593000	0.36686	2.251000	0.74343	0.496000	0.49642	ACT		0.567	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		12	30	0	0	0	1	0	12	30				
CFAP58	159686	broad.mit.edu	37	10	106207489	106207489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106207489G>A	ENST00000369704.3	+	16	2424	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		764						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAAAGCACGTCTTGGCCCG	0.532																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(2290-2292)Gtc>Atc		coiled-coil domain containing 147							59.0	58.0	58.0					10																	106207489		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106207489G>A																												ENST00000369704.3:c.2290G>A	10.37:g.106207489G>A	ENSP00000358718:p.Val764Ile						p.V764I	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	16	2424	+		Colorectal(252;0.103)|Breast(234;0.122)	764					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.2290G>A	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	4.313	0.057457	0.08339	.	.	ENSG00000120051	ENST00000369704	T	0.39787	1.06	5.24	1.58	0.23477	.	0.233243	0.42294	N	0.000736	T	0.14184	0.0343	N	0.01081	-1.03	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05886	-1.0858	10	0.34782	T	0.22	-3.3686	9.091	0.36610	0.6731:0.0:0.3269:0.0	.	764	Q5T655	CC147_HUMAN	I	764	ENSP00000358718:V764I	ENSP00000358718:V764I	V	+	1	0	CCDC147	106197479	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.947000	0.29082	0.011000	0.14865	-0.302000	0.09304	GTC		0.532	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			29	25	0	0	0	1	0	29	25				
MYH3	4621	broad.mit.edu	37	17	10545871	10545871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545871G>A	ENST00000583535.1	-	16	1838	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	MYH3_ENST00000226209.7_Missense_Mutation_p.A584V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	584	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACGGTGCCCGCATAGTGGAT	0.537																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1750-1752)gCg>gTg		myosin, heavy chain 3, skeletal muscle, embryonic							167.0	162.0	164.0					17																	10545871		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545871G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1751C>T	17.37:g.10545871G>A	ENSP00000464317:p.Ala584Val					MYH3_ENST00000226209.7_Missense_Mutation_p.A584V	p.A584V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			16	1838	-			584			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1751C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661330	0.88154	.	.	ENSG00000109063	ENST00000226209	D	0.93426	-3.22	4.74	4.74	0.60224	Myosin head, motor domain (2);	.	.	.	.	D	0.97393	0.9147	H	0.99379	4.54	0.58432	D	0.999991	P	0.48162	0.906	P	0.47981	0.563	D	0.99421	1.0933	9	0.87932	D	0	.	18.2757	0.90083	0.0:0.0:1.0:0.0	.	584	P11055	MYH3_HUMAN	V	584	ENSP00000226209:A584V	ENSP00000226209:A584V	A	-	2	0	MYH3	10486596	1.000000	0.71417	0.952000	0.39060	0.627000	0.37826	9.657000	0.98554	2.627000	0.88993	0.650000	0.86243	GCG		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		34	71	0	0	0	1	0	34	71				
FAM65A	79567	broad.mit.edu	37	16	67578270	67578270	+	Missense_Mutation	SNP	C	C	T	rs202059968		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67578270C>T	ENST00000379312.3	+	15	2802	c.2681C>T	c.(2680-2682)aCg>aTg	p.T894M	FAM65A_ENST00000422602.2_Missense_Mutation_p.T910M|FAM65A_ENST00000042381.4_Missense_Mutation_p.T890M|FAM65A_ENST00000428437.2_Missense_Mutation_p.T904M|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.T909M|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	894						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCTCAGCACGGGGTGTCCA	0.642																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2725-2727)aCg>aTg		family with sequence similarity 65, member A							93.0	87.0	89.0					16																	67578270		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67578270C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2681C>T	16.37:g.67578270C>T	ENSP00000368614:p.Thr894Met					FAM65A_ENST00000042381.4_Missense_Mutation_p.T890M|FAM65A_ENST00000422602.2_Missense_Mutation_p.T910M|FAM65A_ENST00000428437.2_Missense_Mutation_p.T904M|FAM65A_ENST00000379312.3_Missense_Mutation_p.T894M	p.T909M			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	16	2946	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	894					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.2726C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804700	0.90623	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.77229	-1.08;-1.08;-1.08	5.55	4.6	0.57074	.	0.052056	0.85682	D	0.000000	D	0.87589	0.6215	M	0.77103	2.36	0.45733	D	0.998636	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.89140	0.3516	10	0.87932	D	0	-7.9279	14.3003	0.66341	0.0:0.9287:0.0:0.0712	.	904;910;894	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	M	894;890;910;904	ENSP00000368614:T894M;ENSP00000042381:T890M;ENSP00000400099:T910M	ENSP00000042381:T890M	T	+	2	0	FAM65A	66135771	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	7.009000	0.76347	1.358000	0.45922	0.655000	0.94253	ACG		0.642	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		31	90	0	0	0	1	0	31	90				
NUPL1	9818	broad.mit.edu	37	13	25914215	25914215	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25914215A>G	ENST00000381736.3	+	16	1993	c.1743A>G	c.(1741-1743)ggA>ggG	p.G581G	NUPL1_ENST00000381718.3_Silent_p.G569G	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	581					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTGGAACAGGAGGACAACTCC	0.463																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000381736.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(1741-1743)ggA>ggG		nucleoporin like 1							118.0	110.0	113.0					13																	25914215		2203	4300	6503	SO:0001819	synonymous_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25914215A>G	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1743A>G	13.37:g.25914215A>G						NUPL1_ENST00000381718.3_Silent_p.G569G	p.G581G	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	16	1993	+		Lung SC(185;0.0225)|Breast(139;0.0351)	581					A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Silent	SNP	ENST00000381736.3	37	c.1743A>G	CCDS9314.1																																																																																				0.463	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			4	102	0	0	0	1	0	4	102				
PALMD	54873	broad.mit.edu	37	1	100155449	100155449	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100155449T>C	ENST00000263174.4	+	7	1987				PALMD_ENST00000605497.1_Missense_Mutation_p.C545R	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin						regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGACAAGGCATGCCACTGCTG	0.463																																						ENST00000605497.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(1633-1635)Tgc>Cgc		palmdelphin							38.0	38.0	38.0					1																	100155449		2175	4229	6404	SO:0001627	intron_variant	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100155449T>C	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1612+21T>C	1.37:g.100155449T>C						PALMD_ENST00000263174.4_Intron	p.C545R			Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1758	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	0					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.1633T>C	CCDS758.1																																																																																				0.463	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		22	49	0	0	0	1	0	22	49				
ZFP82	284406	broad.mit.edu	37	19	36884446	36884446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36884446G>A	ENST00000392161.3	-	5	1038	c.796C>T	c.(796-798)Cga>Tga	p.R266*	ZFP82_ENST00000392171.1_Nonsense_Mutation_p.R266*	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTGTCCTCGTACCCTAAAA	0.433																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(796-798)Cga>Tga		ZFP82 zinc finger protein							152.0	152.0	152.0					19																	36884446		2203	4300	6503	SO:0001587	stop_gained	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884446G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.796C>T	19.37:g.36884446G>A	ENSP00000431265:p.Arg266*					ZFP82_ENST00000392171.1_Nonsense_Mutation_p.R266*	p.R266*	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1038	-			266					Q8NC63|Q8TF53	Nonsense_Mutation	SNP	ENST00000392161.3	37	c.796C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760761	0.89932	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	.	.	.	4.47	2.24	0.28232	.	0.000000	0.37136	N	0.002235	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.3875	0.07277	0.1877:0.0:0.4684:0.3439	.	.	.	.	X	266	.	ENSP00000431265:R266X	R	-	1	2	ZFP82	41576286	0.000000	0.05858	0.935000	0.37517	0.988000	0.76386	-0.094000	0.11094	2.319000	0.78375	0.655000	0.94253	CGA		0.433	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		53	83	0	0	0	1	0	53	83				
TOR1B	27348	broad.mit.edu	37	9	132569618	132569618	+	Missense_Mutation	SNP	G	G	A	rs142420082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132569618G>A	ENST00000259339.2	+	3	677	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	206					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGTCTTACCGCAAAGCCATC	0.478																																						ENST00000259339.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12						c.(616-618)cGc>cAc		torsin family 1, member B (torsin B)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	202.0	194.0	197.0		617	3.4	1.0	9	dbSNP_134	197	0,8600		0,0,4300	yes	missense	TOR1B	NM_014506.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	206/337	132569618	1,13005	2203	4300	6503	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132569618G>A	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.617G>A	9.37:g.132569618G>A	ENSP00000259339:p.Arg206His						p.R206H	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN			3	677	+		Ovarian(14;0.0586)	206						Missense_Mutation	SNP	ENST00000259339.2	37	c.617G>A	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949061	0.73787	2.27E-4	0.0	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.30981	1.51	5.28	3.39	0.38822	ATPase, AAA+ type, core (1);	0.055914	0.64402	D	0.000001	T	0.25044	0.0608	M	0.64170	1.965	0.80722	D	1	P	0.43885	0.82	B	0.31751	0.135	T	0.08911	-1.0699	10	0.44086	T	0.13	-14.8678	10.5046	0.44826	0.1624:0.0:0.8376:0.0	.	206	O14657	TOR1B_HUMAN	H	206;175	ENSP00000259339:R206H	ENSP00000259339:R206H	R	+	2	0	TOR1B	131609439	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.677000	0.54619	1.198000	0.43158	0.561000	0.74099	CGC		0.478	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		43	68	0	0	0	1	0	43	68				
MPP3	4356	broad.mit.edu	37	17	41886367	41886367	+	Missense_Mutation	SNP	G	G	A	rs202078532	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41886367G>A	ENST00000398389.4	-	19	1703	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M	MPP3_ENST00000398393.1_Missense_Mutation_p.T538M	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	513	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATAGGTGGCGTTTTTCTTTT	0.408													G|||	3	0.000599042	0.0	0.0	5008	,	,		18489	0.0		0.001	False		,,,				2504	0.002					ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1612-1614)aCg>aTg		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)		G	MET/THR	0,3658		0,0,1829	136.0	133.0	134.0		1538	2.9	0.9	17		134	1,8159		0,1,4079	yes	missense	MPP3	NM_001932.4	81	0,1,5908	AA,AG,GG		0.0123,0.0,0.0085	benign	513/586	41886367	1,11817	1829	4080	5909	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41886367G>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1538C>T	17.37:g.41886367G>A	ENSP00000381425:p.Thr513Met					MPP3_ENST00000398389.4_Missense_Mutation_p.T513M	p.T538M			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	17	1873	-		Breast(137;0.00394)	513			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1613C>T	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366648	0.41902	0.0	1.23E-4	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.45668	0.89;0.89	5.06	2.94	0.34122	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.368200	0.30068	N	0.010486	T	0.28665	0.0710	L	0.34521	1.04	0.37191	D	0.903938	B;B	0.15930	0.015;0.015	B;B	0.20184	0.017;0.028	T	0.20840	-1.0263	10	0.45353	T	0.12	.	6.184	0.20488	0.0935:0.0:0.6495:0.257	.	513;538	Q13368;D3DX46	MPP3_HUMAN;.	M	538;513	ENSP00000381430:T538M;ENSP00000381425:T513M	ENSP00000381425:T513M	T	-	2	0	MPP3	39241893	0.517000	0.26226	0.891000	0.34965	0.914000	0.54420	0.961000	0.29267	1.491000	0.48482	0.655000	0.94253	ACG		0.408	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		32	65	0	0	0	1	0	32	65				
WNT11	7481	broad.mit.edu	37	11	75898153	75898153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75898153A>G	ENST00000322563.3	-	5	1145	c.1021T>C	c.(1021-1023)Tgc>Cgc	p.C341R		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	341					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CACCTGCGGCAGGTGACGTAG	0.637																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1021-1023)Tgc>Cgc		wingless-type MMTV integration site family, member 11							128.0	93.0	105.0					11																	75898153		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75898153A>G	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.1021T>C	11.37:g.75898153A>G	ENSP00000325526:p.Cys341Arg						p.C341R	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			5	1145	-			341					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.1021T>C	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183522	0.78677	.	.	ENSG00000085741	ENST00000322563	D	0.87412	-2.25	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.95708	0.8604	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97072	0.9778	10	0.87932	D	0	.	13.9141	0.63885	1.0:0.0:0.0:0.0	.	341	O96014	WNT11_HUMAN	R	341	ENSP00000325526:C341R	ENSP00000325526:C341R	C	-	1	0	WNT11	75575801	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.201000	0.95017	2.033000	0.60031	0.254000	0.18369	TGC		0.637	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		19	34	0	0	0	1	0	19	34				
ENPP2	5168	broad.mit.edu	37	8	120612990	120612990	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120612990C>T	ENST00000075322.6	-	11	958	c.900G>A	c.(898-900)agG>agA	p.R300R	ENPP2_ENST00000259486.6_Splice_Site_p.R300R|ENPP2_ENST00000522826.1_Splice_Site_p.R300R|ENPP2_ENST00000427067.2_Splice_Site_p.R296R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	300					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGACCGAAGGCCTATAAGAAA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.e11-1		ectonucleotide pyrophosphatase/phosphodiesterase 2							87.0	93.0	91.0					8																	120612990		2203	4300	6503	SO:0001630	splice_region_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120612990C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.900-1G>A	8.37:g.120612990C>T						ENPP2_ENST00000259486.6_Splice_Site_p.R300_splice|ENPP2_ENST00000075322.6_Splice_Site_p.R300_splice|ENPP2_ENST00000522826.1_Splice_Site_p.R300_splice	p.R296_splice			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		11	1068	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		300					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Splice_Site	SNP	ENST00000075322.6	37	c.887_splice	CCDS34936.1																																																																																				0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		Silent	13	35	0	0	0	1	0	13	35				
IL10	3586	broad.mit.edu	37	1	206944381	206944381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206944381C>T	ENST00000423557.1	-	3	307	c.249G>A	c.(247-249)ttG>ttA	p.L83L	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	83					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCATCTCAGACAAGGCTTGGC	0.562																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(247-249)ttG>ttA		interleukin 10							123.0	120.0	121.0					1																	206944381		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944381C>T	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.249G>A	1.37:g.206944381C>T						IL10_ENST00000471071.1_5'UTR	p.L83L	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	307	-	Breast(84;0.183)		83						Silent	SNP	ENST00000423557.1	37	c.249G>A	CCDS1467.1																																																																																				0.562	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		7	72	0	0	0	1	0	7	72				
COL2A1	1280	broad.mit.edu	37	12	48367317	48367317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48367317C>T	ENST00000380518.3	-	54	4501	c.4337G>A	c.(4336-4338)gGc>gAc	p.G1446D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1377D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1446	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACAGTCTTGCCCCACTTACC	0.532																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64	GRCh37	CD042588	COL2A1	D		c.(4336-4338)gGc>gAc		collagen, type II, alpha 1	Collagenase(DB00048)						122.0	106.0	111.0					12																	48367317		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48367317C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4337G>A	12.37:g.48367317C>T	ENSP00000369889:p.Gly1446Asp					COL2A1_ENST00000337299.6_Missense_Mutation_p.G1377D|COL2A1_ENST00000493991.1_5'UTR	p.G1446D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			54	4501	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1446			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.4337G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348947	0.41599	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.73363	-0.74;-0.74	4.12	2.16	0.27623	Fibrillar collagen, C-terminal (4);	0.200115	0.43110	N	0.000612	T	0.71443	0.3340	M	0.78049	2.395	0.50632	D	0.999882	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.67860	-0.5561	10	0.62326	D	0.03	.	9.2315	0.37439	0.0:0.8082:0.0:0.1918	.	1377;1446	P02458-1;P02458	.;CO2A1_HUMAN	D	1446;1377;1377	ENSP00000369889:G1446D;ENSP00000338213:G1377D	ENSP00000338213:G1377D	G	-	2	0	COL2A1	46653584	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.814000	0.55643	0.422000	0.26005	-0.367000	0.07326	GGC		0.532	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		17	35	0	0	0	1	0	17	35				
PLCXD3	345557	broad.mit.edu	37	5	41382049	41382049	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382049C>A	ENST00000377801.3	-	2	765	c.691G>T	c.(691-693)Gca>Tca	p.A231S	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A231S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	231					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGATGGATGCTTGAAGAAAC	0.537																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(691-693)Gca>Tca		phosphatidylinositol-specific phospholipase C, X domain containing 3							66.0	71.0	69.0					5																	41382049		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382049C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.691G>T	5.37:g.41382049C>A	ENSP00000367032:p.Ala231Ser					PLCXD3_ENST00000328457.3_Missense_Mutation_p.A231S	p.A231S			Q63HM9	PLCX3_HUMAN			2	765	-			231					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.691G>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601924	0.28534	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.096275	0.64402	D	0.000001	T	0.42765	0.1217	L	0.40543	1.245	0.58432	D	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.26292	-1.0107	9	0.09590	T	0.72	-14.0643	8.554	0.33469	0.2755:0.6559:0.0:0.0686	.	231	Q63HM9	PLCX3_HUMAN	S	231	.	ENSP00000333751:A231S	A	-	1	0	PLCXD3	41417806	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.407000	0.34657	1.534000	0.49203	0.655000	0.94253	GCA		0.537	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		27	31	1	0	2.44723e-14	1	3.12147e-14	27	31				
SLCO4C1	353189	broad.mit.edu	37	5	101585411	101585411	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101585411T>C	ENST00000310954.6	-	9	1837	c.1551A>G	c.(1549-1551)ggA>ggG	p.G517G		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGACTCCATCTCCACAGACAG	0.413																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1549-1551)ggA>ggG		solute carrier organic anion transporter family, member 4C1							94.0	91.0	92.0					5																	101585411		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101585411T>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1551A>G	5.37:g.101585411T>C							p.G517G	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	9	1837	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	517			Kazal-like.			Silent	SNP	ENST00000310954.6	37	c.1551A>G	CCDS34205.1																																																																																				0.413	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		6	43	0	0	0	1	0	6	43				
GNPDA1	10007	broad.mit.edu	37	5	141382753	141382753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141382753C>T	ENST00000508177.1	-	5	1427	c.669G>A	c.(667-669)atG>atA	p.M223I	GNPDA1_ENST00000458112.2_Missense_Mutation_p.M189I|GNPDA1_ENST00000542860.1_Missense_Mutation_p.M146I|GNPDA1_ENST00000311337.6_Missense_Mutation_p.M223I|GNPDA1_ENST00000503794.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000513454.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000500692.2_Missense_Mutation_p.M223I			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	223					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTCCACATGTGGTTCA	0.512																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(667-669)atG>atA		glucosamine-6-phosphate deaminase 1							161.0	137.0	145.0					5																	141382753		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141382753C>T	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.669G>A	5.37:g.141382753C>T	ENSP00000423674:p.Met223Ile					GNPDA1_ENST00000311337.6_Missense_Mutation_p.M223I|GNPDA1_ENST00000458112.2_Missense_Mutation_p.M189I|GNPDA1_ENST00000503794.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000542860.1_Missense_Mutation_p.M146I|GNPDA1_ENST00000513454.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000500692.2_Missense_Mutation_p.M223I	p.M223I			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1427	-		all_hematologic(541;0.118)	223					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.669G>A	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435313	0.83885	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000504139;ENST00000505689	T;T;T;T;T;T;T;T;T	0.46819	1.0;1.0;1.0;1.0;1.0;1.0;0.86;0.97;1.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	M	0.75447	2.3	0.80722	D	1	P;B	0.37423	0.594;0.244	B;B	0.38156	0.266;0.074	T	0.61237	-0.7103	10	0.72032	D	0.01	-41.3039	19.3995	0.94621	0.0:1.0:0.0:0.0	.	189;223	E7EVU7;P46926	.;GNPI1_HUMAN	I	223;223;189;223;223;223;146;189;244	ENSP00000423494:M223I;ENSP00000311876:M223I;ENSP00000387718:M189I;ENSP00000424275:M223I;ENSP00000423674:M223I;ENSP00000423485:M223I;ENSP00000445143:M146I;ENSP00000424625:M189I;ENSP00000421524:M244I	ENSP00000311876:M223I	M	-	3	0	GNPDA1	141362937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.890000	0.99128	0.655000	0.94253	ATG		0.512	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		4	37	0	0	0	1	0	4	37				
GAREM	64762	broad.mit.edu	37	18	29867591	29867591	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29867591G>A	ENST00000269209.6	-	4	972	c.969C>T	c.(967-969)gtC>gtT	p.V323V	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Silent_p.V323V			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	323					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GCCAGTGATGGACCAGGGTTT	0.527																																						ENST00000399218.4																			0											c.(967-969)gtC>gtT		GRB2 associated, regulator of MAPK1							86.0	81.0	83.0					18																	29867591		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867591G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.969C>T	18.37:g.29867591G>A						GAREM_ENST00000269209.6_Silent_p.V323V|RP11-344B2.2_ENST00000579580.1_RNA	p.V323V	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	1024	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.969C>T	CCDS56057.1																																																																																				0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		15	31	0	0	0	1	0	15	31				
PHKG1	5260	broad.mit.edu	37	7	56151049	56151049	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56151049G>T	ENST00000297373.2	-	6	663	c.469C>A	c.(469-471)Ctc>Atc	p.L157I	PHKG1_ENST00000537360.1_Missense_Mutation_p.L103I|PHKG1_ENST00000452681.2_Missense_Mutation_p.L189I|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCATCCAAGAGAATGTTCTCG	0.552																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(565-567)Ctc>Atc		phosphorylase kinase, gamma 1 (muscle)							101.0	94.0	96.0					7																	56151049		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56151049G>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.469C>A	7.37:g.56151049G>T	ENSP00000297373:p.Leu157Ile					PHKG1_ENST00000537360.1_Missense_Mutation_p.L103I|PHKG1_ENST00000297373.2_Missense_Mutation_p.L157I	p.L189I	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	714	-	Breast(14;0.214)		157			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.565C>A	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397046	0.96009	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373;ENST00000446428;ENST00000432123	T;T;T;T;T	0.80033	-1.33;-0.31;-0.31;0.4;0.4	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.91102	0.7199	M	0.85710	2.77	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.996;0.999	D	0.91783	0.5437	10	0.87932	D	0	-40.8706	19.0213	0.92916	0.0:0.0:1.0:0.0	.	103;148;189;157	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	I	189;103;157;79;79	ENSP00000445440:L189I;ENSP00000441528:L103I;ENSP00000297373:L157I;ENSP00000389721:L79I;ENSP00000397193:L79I	ENSP00000297373:L157I	L	-	1	0	PHKG1	56118543	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.920000	0.87521	2.820000	0.97059	0.650000	0.86243	CTC		0.552	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		17	46	1	0	2.35188e-11	1	2.93101e-11	17	46				
ERBB3	2065	broad.mit.edu	37	12	56487333	56487333	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56487333C>T	ENST00000267101.3	+	12	1919	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Splice_Site_p.C434C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	493					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCAGAGACTGCGGTGAGGGAA	0.572																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.e12+1		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							49.0	49.0	49.0					12																	56487333		2203	4300	6503	SO:0001630	splice_region_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56487333C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1480+1C>T	12.37:g.56487333C>T						ERBB3_ENST00000415288.2_Splice_Site_p.C434_splice|ERBB3_ENST00000450146.2_Intron	p.C493_splice	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		12	1919	+			493					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Splice_Site	SNP	ENST00000267101.3	37	c.1480_splice	CCDS31833.1																																																																																				0.572	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Silent	4	49	0	0	0	1	0	4	49				
NPTX1	4884	broad.mit.edu	37	17	78444684	78444684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78444684C>T	ENST00000306773.4	-	5	1385	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	410	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGGGATTCAGCCCAGGCGATG	0.647																																						ENST00000306773.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(1228-1230)Gct>Act		neuronal pentraxin I							98.0	86.0	90.0					17																	78444684		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78444684C>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1228G>A	17.37:g.78444684C>T	ENSP00000307549:p.Ala410Thr						p.A410T	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		5	1385	-	all_neural(118;0.0538)		410			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.1228G>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	8.130	0.782887	0.16189	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.58506	0.33	5.55	2.44	0.29823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.550556	0.19816	N	0.105422	T	0.29882	0.0747	N	0.04994	-0.135	0.43238	D	0.995142	B	0.18461	0.028	B	0.15052	0.012	T	0.04900	-1.0919	10	0.11182	T	0.66	-8.9258	8.7647	0.34696	0.4983:0.4325:0.0:0.0691	.	410	Q15818	NPTX1_HUMAN	T	410;172	ENSP00000307549:A410T	ENSP00000307549:A410T	A	-	1	0	NPTX1	76059279	0.861000	0.29849	0.962000	0.40283	0.933000	0.57130	0.142000	0.16096	0.289000	0.22422	0.561000	0.74099	GCT		0.647	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			15	45	0	0	0	1	0	15	45				
ADRBK2	157	broad.mit.edu	37	22	26063737	26063737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26063737G>A	ENST00000324198.6	+	6	665	c.473G>A	c.(472-474)cGa>cAa	p.R158Q		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	158	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAAGCCTTCGAGGTGACATT	0.323																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(472-474)cGa>cAa		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						65.0	66.0	66.0					22																	26063737		2203	4299	6502	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26063737G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.473G>A	22.37:g.26063737G>A	ENSP00000317578:p.Arg158Gln						p.R158Q	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			6	665	+			158			N-terminal.|RGS.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.473G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594352	0.66219	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.02345	4.33	5.76	4.75	0.60458	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.068507	0.64402	N	0.000015	T	0.07458	0.0188	M	0.76574	2.34	0.80722	D	1	D;B	0.76494	0.999;0.167	P;B	0.47981	0.563;0.026	T	0.20174	-1.0283	10	0.41790	T	0.15	-9.3219	12.4474	0.55659	0.081:0.0:0.919:0.0	.	158;158	A8K869;P35626	.;ARBK2_HUMAN	Q	158	ENSP00000317578:R158Q	ENSP00000317578:R158Q	R	+	2	0	ADRBK2	24393737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.279000	0.72620	1.449000	0.47699	0.650000	0.86243	CGA		0.323	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		5	39	0	0	0	1	0	5	39				
PANK4	55229	broad.mit.edu	37	1	2452612	2452612	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2452612G>T	ENST00000378466.3	-	3	362	c.350C>A	c.(349-351)aCc>aAc	p.T117N	PANK4_ENST00000435556.3_Missense_Mutation_p.T117N|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	117					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GATGACCTTGGTCTCTGTGTT	0.522																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(349-351)aCc>aAc		pantothenate kinase 4							124.0	123.0	123.0					1																	2452612		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452612G>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.350C>A	1.37:g.2452612G>T	ENSP00000367727:p.Thr117Asn					PANK4_ENST00000435556.3_Missense_Mutation_p.T117N	p.T117N	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	3	362	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	117					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.350C>A	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216068	0.39201	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99527	-6.09;-3.83	4.87	4.87	0.63330	.	0.137547	0.48286	D	0.000186	D	0.97567	0.9203	N	0.12853	0.265	0.80722	D	1	P;P	0.51147	0.942;0.942	B;P	0.47015	0.415;0.534	D	0.97871	1.0286	10	0.16896	T	0.51	-42.4257	16.9923	0.86357	0.0:0.0:1.0:0.0	.	117;117	E9PHT6;Q9NVE7	.;PANK4_HUMAN	N	117	ENSP00000367727:T117N;ENSP00000421433:T117N	ENSP00000367727:T117N	T	-	2	0	PANK4	2442472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.018000	0.93657	2.248000	0.74166	0.563000	0.77884	ACC		0.522	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			10	103	1	0	2.32078e-09	1	2.82054e-09	10	103				
CENPW	387103	broad.mit.edu	37	6	126667456	126667456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126667456G>A	ENST00000368328.4	+	2	332	c.232G>A	c.(232-234)Gca>Aca	p.A78T	CENPW_ENST00000368326.1_Silent_p.P64P|CENPW_ENST00000368325.1_Missense_Mutation_p.A93T			Q5EE01	CENPW_HUMAN	centromere protein W	78					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						TGTACTGGCCGCAGCAAAGGT	0.398																																						ENST00000368328.4																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(232-234)Gca>Aca		centromere protein W							79.0	75.0	76.0					6																	126667456		2203	4300	6503	SO:0001583	missense	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126667456G>A	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.232G>A	6.37:g.126667456G>A	ENSP00000357311:p.Ala78Thr					CENPW_ENST00000368326.1_Silent_p.P64P|CENPW_ENST00000368325.1_Missense_Mutation_p.A93T	p.A78T			Q5EE01	CENPW_HUMAN			2	332	+			78					A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	c.232G>A	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471828	0.63737	.	.	ENSG00000203760	ENST00000368325;ENST00000368328	T	0.55930	0.49	5.41	3.6	0.41247	Histone-fold (1);	0.201111	0.24904	N	0.034671	T	0.20292	0.0488	.	.	.	0.31199	N	0.700026	B	0.26902	0.163	B	0.21360	0.034	T	0.06954	-1.0798	9	0.59425	D	0.04	-9.0468	6.677	0.23100	0.0908:0.0:0.7331:0.1761	.	78	Q5EE01	CENPW_HUMAN	T	93;78	ENSP00000357311:A78T	ENSP00000357308:A93T	A	+	1	0	CENPW	126709149	1.000000	0.71417	0.952000	0.39060	0.555000	0.35460	4.170000	0.58229	0.623000	0.30267	0.563000	0.77884	GCA		0.398	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			5	52	0	0	0	1	0	5	52				
SLC22A9	114571	broad.mit.edu	37	11	63177288	63177288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63177288G>A	ENST00000279178.3	+	10	1865	c.1616G>A	c.(1615-1617)aGa>aAa	p.R539K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	539					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAGACCCCAGAGAACCAAAG	0.418																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1615-1617)aGa>aAa		solute carrier family 22 (organic anion transporter), member 9							68.0	72.0	70.0					11																	63177288		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63177288G>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1616G>A	11.37:g.63177288G>A	ENSP00000279178:p.Arg539Lys					SLC22A9_ENST00000310969.4_3'UTR	p.R539K	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			10	1865	+			539					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1616G>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	6.323	0.427621	0.11987	.	.	ENSG00000149742	ENST00000279178	T	0.63580	-0.05	2.9	-0.467	0.12150	.	1.787490	0.02935	N	0.139719	T	0.50718	0.1632	L	0.53780	1.695	0.09310	N	0.999999	B	0.17268	0.021	B	0.16289	0.015	T	0.07635	-1.0762	10	0.08381	T	0.77	.	2.9002	0.05703	0.2659:0.0:0.5204:0.2136	.	539	Q8IVM8	S22A9_HUMAN	K	539	ENSP00000279178:R539K	ENSP00000279178:R539K	R	+	2	0	SLC22A9	62933864	0.476000	0.25901	0.001000	0.08648	0.002000	0.02628	1.174000	0.31932	-0.216000	0.10048	-0.745000	0.03516	AGA		0.418	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		11	18	0	0	0	1	0	11	18				
KLHL2	11275	broad.mit.edu	37	4	166226860	166226860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166226860C>T	ENST00000226725.6	+	9	1281	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	KLHL2_ENST00000538127.1_Missense_Mutation_p.S253F|KLHL2_ENST00000514860.1_Missense_Mutation_p.S345F|KLHL2_ENST00000421009.2_Missense_Mutation_p.S244F|KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000506761.1_Missense_Mutation_p.S175F	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	341					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAGTTGCCTTCCAGGAGGTGC	0.463																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1021-1023)tCc>tTc		kelch-like family member 2							144.0	138.0	140.0					4																	166226860		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166226860C>T	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1022C>T	4.37:g.166226860C>T	ENSP00000226725:p.Ser341Phe					KLHL2_ENST00000538127.1_Missense_Mutation_p.S253F|KLHL2_ENST00000506761.1_Missense_Mutation_p.S175F|KLHL2_ENST00000421009.2_Missense_Mutation_p.S244F|KLHL2_ENST00000514860.1_Missense_Mutation_p.S345F|KLHL2_ENST00000509028.1_Intron	p.S341F	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	9	1281	+	all_hematologic(180;0.221)		341					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.1022C>T	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595860	0.86953	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	6.02	6.02	0.97574	Galactose oxidase, beta-propeller (1);	0.152419	0.64402	D	0.000011	T	0.74711	0.3752	L	0.46567	1.45	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.55055	0.767;0.767	T	0.75479	-0.3303	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	345;341	B4DFH7;O95198	.;KLHL2_HUMAN	F	341;345;253;244;175	ENSP00000226725:S341F;ENSP00000424198:S345F;ENSP00000437526:S253F;ENSP00000408974:S244F;ENSP00000424108:S175F	ENSP00000226725:S341F	S	+	2	0	KLHL2	166446310	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.625000	0.83145	2.865000	0.98341	0.655000	0.94253	TCC		0.463	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			37	73	0	0	0	1	0	37	73				
PRR12	57479	broad.mit.edu	37	19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50098071G>A	ENST00000418929.2	+	4	491	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(478-480)cGc>cAc		proline rich 12							20.0	25.0	24.0					19																	50098071		1987	4141	6128	SO:0001583	missense	57479						DNA binding	g.chr19:50098071G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.479G>A	19.37:g.50098071G>A	ENSP00000394510:p.Arg160His						p.R160H	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	491	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	573			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.479G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694825	0.48202	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.78407	0.4278	.	.	.	0.36209	D	0.851264	D	0.89917	1.0	D	0.71414	0.973	D	0.85382	0.1120	7	0.87932	D	0	.	15.4155	0.74962	0.0:0.0:1.0:0.0	.	160	Q9ULL5-3	.	H	160	.	ENSP00000394510:R160H	R	+	2	0	PRR12	54789883	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	7.117000	0.77129	2.252000	0.74401	0.563000	0.77884	CGC		0.662	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		7	8	0	0	0	1	0	7	8				
CDKL5	6792	broad.mit.edu	37	X	18622549	18622549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622549C>A	ENST00000379989.3	+	13	1790	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.S502Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	502					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCAACCTTTCTGAAGCCAGG	0.537																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1504-1506)tCt>tAt		cyclin-dependent kinase-like 5							131.0	124.0	126.0					X																	18622549		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622549C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1505C>A	X.37:g.18622549C>A	ENSP00000369325:p.Ser502Tyr					CDKL5_ENST00000379996.3_Missense_Mutation_p.S502Y|CDKL5_ENST00000463994.1_3'UTR	p.S502Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			13	1790	+	Hepatocellular(33;0.183)		502					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1505C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516192	0.64634	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.72835	-0.69;-0.69	6.06	6.06	0.98353	.	0.282399	0.41605	D	0.000849	T	0.70962	0.3284	L	0.27053	0.805	0.33072	D	0.535448	D	0.61080	0.989	P	0.55087	0.768	T	0.79593	-0.1739	10	0.87932	D	0	-16.2894	14.9982	0.71449	0.0:0.8621:0.1379:0.0	.	502	O76039	CDKL5_HUMAN	Y	502	ENSP00000369332:S502Y;ENSP00000369325:S502Y	ENSP00000369325:S502Y	S	+	2	0	CDKL5	18532470	0.997000	0.39634	0.953000	0.39169	0.951000	0.60555	3.558000	0.53749	2.562000	0.86427	0.600000	0.82982	TCT		0.537	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		15	130	1	0	1.3612e-06	1	1.57881e-06	15	130				
ADRA1A	148	broad.mit.edu	37	8	26623572	26623572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26623572C>T	ENST00000354550.4	-	3	1563	c.1364G>A	c.(1363-1365)tGc>tAc	p.C455Y	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_Intron	NM_033304.2	NP_150647.2	P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGAGATCAGCATTCTGAACC	0.448																																						ENST00000354550.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1363-1365)tGc>tAc		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						123.0	112.0	116.0					8																	26623572		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26623572C>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000354550.4:c.1364G>A	8.37:g.26623572C>T	ENSP00000346557:p.Cys455Tyr					ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron	p.C455Y	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	1563	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	0					Q9NPY0	Missense_Mutation	SNP	ENST00000354550.4	37	c.1364G>A	CCDS6053.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059316	0.19987	.	.	ENSG00000120907	ENST00000354550	T	0.62364	0.03	4.14	2.33	0.28932	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44922	-0.9296	8	0.87932	D	0	.	4.9703	0.14111	0.2085:0.6851:0.0:0.1065	.	455	P35348-4	.	Y	455	ENSP00000346557:C455Y	ENSP00000346557:C455Y	C	-	2	0	ADRA1A	26679489	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.071000	0.11505	0.689000	0.31550	-0.182000	0.12963	TGC		0.448	ADRA1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216928.1	NM_033303		9	82	0	0	0	1	0	9	82				
ZNF277	11179	broad.mit.edu	37	7	111958314	111958314	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111958314A>G	ENST00000361822.3	+	5	672	c.543A>G	c.(541-543)gaA>gaG	p.E181E	ZNF277_ENST00000450657.1_Silent_p.E181E	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	181					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCAATGAAGAATTCCTTGGAA	0.328																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(541-543)gaA>gaG		zinc finger protein 277							114.0	106.0	109.0					7																	111958314		2203	4300	6503	SO:0001819	synonymous_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111958314A>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.543A>G	7.37:g.111958314A>G						ZNF277_ENST00000450657.1_Silent_p.E181E	p.E181E	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			5	672	+			181					Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	c.543A>G	CCDS5755.2																																																																																				0.328	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		4	58	0	0	0	1	0	4	58				
ABCB5	340273	broad.mit.edu	37	7	20778740	20778740	+	Missense_Mutation	SNP	G	G	A	rs528761902		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20778740G>A	ENST00000404938.2	+	24	3654	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R556H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1001					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAGACAGCCGCAGTCAAGAA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15719	0.0		0.0	False		,,,				2504	0.0					ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3001-3003)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 5							45.0	40.0	42.0					7																	20778740		2203	4299	6502	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20778740G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3002G>A	7.37:g.20778740G>A	ENSP00000384881:p.Arg1001His					ABCB5_ENST00000258738.6_Missense_Mutation_p.R556H	p.R1001H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			24	3654	+			556					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.3002G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	6.507	0.461782	0.12342	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.71817	-0.6;-0.6	4.58	-0.342	0.12635	.	0.887861	0.09472	N	0.797508	T	0.48259	0.1490	N	0.14661	0.345	0.21147	N	0.999778	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33137	-0.9880	10	0.45353	T	0.12	.	4.1815	0.10378	0.419:0.0:0.4072:0.1738	.	1001;556	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	1001;556	ENSP00000384881:R1001H;ENSP00000258738:R556H	ENSP00000258738:R556H	R	+	2	0	ABCB5	20745265	0.682000	0.27624	0.889000	0.34880	0.123000	0.20343	1.022000	0.30052	0.078000	0.16900	-0.475000	0.04921	CGC		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		11	10	0	0	0	1	0	11	10				
CALU	813	broad.mit.edu	37	7	128394464	128394464	+	Missense_Mutation	SNP	G	G	A	rs147388270		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128394464G>A	ENST00000249364.4	+	3	472	c.370G>A	c.(370-372)Gtt>Att	p.V124I	CALU_ENST00000542996.2_Intron|CALU_ENST00000449187.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.V132I|CALU_ENST00000535011.2_Missense_Mutation_p.V124I|CALU_ENST00000538546.1_Intron|CALU_ENST00000535623.1_Missense_Mutation_p.V132I	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	124	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GGACGGCCTCGTTTCCTGGGA	0.502																																						ENST00000535623.1																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(394-396)Gtt>Att		calumenin		G	,ILE/VAL,,ILE/VAL,,ILE/VAL	0,4406		0,0,2203	115.0	101.0	105.0		,394,,370,,370	4.2	1.0	7	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,missense,intron,missense	CALU	NM_001130674.2,NM_001199671.1,NM_001199672.1,NM_001199673.1,NM_001199674.1,NM_001219.4	,29,,29,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,,benign,,benign	,132/324,,124/225,,124/316	128394464	1,13005	2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128394464G>A	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.370G>A	7.37:g.128394464G>A	ENSP00000249364:p.Val124Ile					CALU_ENST00000479257.1_Missense_Mutation_p.V132I|CALU_ENST00000249364.4_Missense_Mutation_p.V124I|CALU_ENST00000535011.2_Missense_Mutation_p.V124I|CALU_ENST00000449187.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000542996.2_Intron	p.V132I	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN			4	1337	+			124			EF-hand 2.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.394G>A	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	G	7.334	0.619620	0.14193	0.0	1.16E-4	ENSG00000128595	ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.96	4.16	0.48862	EF-hand-like domain (1);	0.364538	0.30611	N	0.009250	T	0.42404	0.1201	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18461	-1.0336	10	0.09843	T	0.71	-11.1282	10.4846	0.44713	0.1567:0.0:0.8433:0.0	.	124	O43852	CALU_HUMAN	I	132;124;124;124;132	ENSP00000439139:V132I;ENSP00000442110:V124I;ENSP00000249364:V124I;ENSP00000420381:V132I	ENSP00000249364:V124I	V	+	1	0	CALU	128181700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.135000	0.42112	0.856000	0.35383	0.655000	0.94253	GTT		0.502	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		20	17	0	0	0	1	0	20	17				
CPA2	1358	broad.mit.edu	37	7	129909568	129909568	+	Silent	SNP	C	C	T	rs373673189		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129909568C>T	ENST00000222481.4	+	3	268	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	71					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGTTCCCTTCGTCAACGTCC	0.502																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(211-213)ttC>ttT		carboxypeptidase A2 (pancreatic)		C		0,4406		0,0,2203	153.0	128.0	137.0		213	-2.7	0.0	7		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPA2	NM_001869.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		71/420	129909568	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129909568C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.213C>T	7.37:g.129909568C>T							p.F71F	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			3	268	+	Melanoma(18;0.0435)		71					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.213C>T	CCDS5817.2																																																																																				0.502	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		7	79	0	0	0	1	0	7	79				
GFRA1	2674	broad.mit.edu	37	10	117884797	117884797	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117884797A>G	ENST00000355422.6	-	6	1255	c.705T>C	c.(703-705)taT>taC	p.Y235Y	GFRA1_ENST00000369236.1_Silent_p.Y230Y|GFRA1_ENST00000439649.3_Silent_p.Y230Y|GFRA1_ENST00000544592.1_Silent_p.Y114Y	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	235					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCCTCTCTTCATAGGAGCACA	0.557																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(688-690)taT>taC		GDNF family receptor alpha 1							72.0	62.0	65.0					10																	117884797		2203	4300	6503	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884797A>G	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.705T>C	10.37:g.117884797A>G						GFRA1_ENST00000369236.1_Silent_p.Y230Y|GFRA1_ENST00000355422.6_Silent_p.Y235Y|GFRA1_ENST00000544592.1_Silent_p.Y114Y	p.Y230Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	1057	-		Lung NSC(174;0.21)	235					A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.690T>C	CCDS44481.1																																																																																				0.557	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		10	46	0	0	0	1	0	10	46				
FGFR4	2264	broad.mit.edu	37	5	176518737	176518737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176518737C>T	ENST00000292408.4	+	6	900	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	FGFR4_ENST00000393648.2_Missense_Mutation_p.R219C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R219C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R219C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R219C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	219	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GCCCTCGGACCGCGGCACATA	0.637										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(655-657)Cgc>Tgc		fibroblast growth factor receptor 4	Palifermin(DB00039)						94.0	77.0	83.0					5																	176518737		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176518737C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.655C>T	5.37:g.176518737C>T	ENSP00000292408:p.Arg219Cys	TSP Lung(9;0.080)				FGFR4_ENST00000393648.2_Missense_Mutation_p.R219C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R219C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R219C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R219C	p.R219C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	900	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	219			Ig-like C2-type 2.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.655C>T	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323451	0.60634	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.13	4.13	0.48395	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	M	0.64404	1.975	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.996;0.984;0.964	T	0.80989	-0.1136	10	0.52906	T	0.07	.	16.5266	0.84332	0.0:1.0:0.0:0.0	.	219;219;219;219	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	C	219;219;219;219;219;331	ENSP00000292408:R219C;ENSP00000377259:R219C;ENSP00000424960:R219C;ENSP00000292410:R219C;ENSP00000377254:R219C	ENSP00000292408:R219C	R	+	1	0	FGFR4	176451343	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	2.003000	0.40844	2.304000	0.77564	0.491000	0.48974	CGC		0.637	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			15	31	0	0	0	1	0	15	31				
COPA	1314	broad.mit.edu	37	1	160283846	160283846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160283846G>T	ENST00000241704.7	-	9	1005	c.776C>A	c.(775-777)cCt>cAt	p.P259H	COPA_ENST00000368069.3_Missense_Mutation_p.P259H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	259					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTGGCGAGGGTGGAAGAC	0.463																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(775-777)cCt>cAt		coatomer protein complex, subunit alpha							101.0	92.0	95.0					1																	160283846		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160283846G>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.776C>A	1.37:g.160283846G>T	ENSP00000241704:p.Pro259His					COPA_ENST00000368069.3_Missense_Mutation_p.P259H	p.P259H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1005	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		259					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.776C>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092076	0.94149	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.70516	-0.49;-0.49	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83087	0.5178	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.84959	0.0876	10	0.87932	D	0	-10.857	18.2406	0.89966	0.0:0.0:1.0:0.0	.	259;259	P53621;P53621-2	COPA_HUMAN;.	H	259	ENSP00000357048:P259H;ENSP00000241704:P259H	ENSP00000241704:P259H	P	-	2	0	COPA	158550470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.317000	0.96327	2.634000	0.89283	0.655000	0.94253	CCT		0.463	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	43	1	0	0.00307968	1	0.00325696	7	43				
PHF12	57649	broad.mit.edu	37	17	27251052	27251052	+	Missense_Mutation	SNP	G	G	A	rs568207986		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27251052G>A	ENST00000332830.4	-	4	1400	c.590C>T	c.(589-591)gCg>gTg	p.A197V	RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.A197V|PHF12_ENST00000268756.3_Missense_Mutation_p.A197V|RP11-20B24.5_ENST00000582631.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTCTGGCTCCGCTGCTACTGG	0.582																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(589-591)gCg>gTg		PHD finger protein 12							75.0	61.0	66.0					17																	27251052		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27251052G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.590C>T	17.37:g.27251052G>A	ENSP00000329933:p.Ala197Val					PHF12_ENST00000332830.4_Missense_Mutation_p.A197V|PHF12_ENST00000268756.3_Missense_Mutation_p.A197V|PHF12_ENST00000582655.1_5'UTR	p.A197V			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		4	936	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		197			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.590C>T	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113370	0.56398	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94537	-3.43;-3.45;-3.45	6.01	4.03	0.46877	.	0.275476	0.41001	N	0.000977	D	0.89525	0.6740	L	0.36672	1.1	0.38031	D	0.935161	B;B;B;B	0.15141	0.0;0.012;0.001;0.0	B;B;B;B	0.08055	0.0;0.003;0.001;0.0	D	0.84666	0.0709	10	0.33940	T	0.23	-1.0709	9.2404	0.37493	0.2221:0.0:0.7779:0.0	.	179;197;197;197	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	V	197	ENSP00000329933:A197V;ENSP00000368157:A197V;ENSP00000268756:A197V	ENSP00000268756:A197V	A	-	2	0	PHF12	24275178	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.623000	0.61247	0.879000	0.35944	-0.157000	0.13467	GCG		0.582	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		16	14	0	0	0	1	0	16	14				
SCCPDH	51097	broad.mit.edu	37	1	246923291	246923291	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246923291C>T	ENST00000366510.3	+	8	1222	c.846C>T	c.(844-846)ggC>ggT	p.G282G		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	282						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTGGGAGGCATCACCTCTG	0.373																																						ENST00000366510.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17						c.(844-846)ggC>ggT		saccharopine dehydrogenase (putative)							321.0	286.0	298.0					1																	246923291		2203	4300	6503	SO:0001819	synonymous_variant	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246923291C>T		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.846C>T	1.37:g.246923291C>T							p.G282G	NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	8	1222	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	282					Q8TAR0|Q9Y363	Silent	SNP	ENST00000366510.3	37	c.846C>T	CCDS31084.1																																																																																				0.373	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		71	78	0	0	0	1	0	71	78				
AKAP6	9472	broad.mit.edu	37	14	33293146	33293146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293146C>T	ENST00000280979.4	+	13	6297	c.6127C>T	c.(6127-6129)Cca>Tca	p.P2043S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2043					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAACTGTGAGCCAGATGTTTT	0.408																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(6127-6129)Cca>Tca		A kinase (PRKA) anchor protein 6							79.0	76.0	77.0					14																	33293146		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293146C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6127C>T	14.37:g.33293146C>T	ENSP00000280979:p.Pro2043Ser					AKAP6_ENST00000557272.1_Intron	p.P2043S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6297	+	Breast(36;0.0388)|Prostate(35;0.15)		2043					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6127C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655224	0.29425	.	.	ENSG00000151320	ENST00000280979	T	0.50001	0.76	5.96	0.767	0.18482	.	0.371485	0.26863	N	0.022108	T	0.30665	0.0772	L	0.48362	1.52	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.07927	-1.0747	10	0.24483	T	0.36	-2.0193	1.6441	0.02758	0.1407:0.4161:0.1381:0.3051	.	2043	Q13023	AKAP6_HUMAN	S	2043	ENSP00000280979:P2043S	ENSP00000280979:P2043S	P	+	1	0	AKAP6	32362897	0.813000	0.29090	0.997000	0.53966	0.993000	0.82548	0.173000	0.16724	0.409000	0.25649	0.655000	0.94253	CCA		0.408	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		24	32	0	0	0	1	0	24	32				
WDR17	116966	broad.mit.edu	37	4	177052789	177052789	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177052789C>T	ENST00000280190.4	+	8	1226	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V	WDR17_ENST00000507824.2_Missense_Mutation_p.A340V|WDR17_ENST00000393643.2_Missense_Mutation_p.A333V|WDR17_ENST00000508596.1_Missense_Mutation_p.A333V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	357										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGAATCAAGCATTTTCTCTT	0.398																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(997-999)gCa>gTa		WD repeat domain 17							284.0	276.0	279.0					4																	177052789		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177052789C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1070C>T	4.37:g.177052789C>T	ENSP00000280190:p.Ala357Val					WDR17_ENST00000508596.1_Missense_Mutation_p.A333V|WDR17_ENST00000280190.4_Missense_Mutation_p.A357V|WDR17_ENST00000507824.2_Missense_Mutation_p.A340V	p.A333V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	7	1250	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	357					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.998C>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.12|17.12	3.309125|3.309125	0.60414|0.60414	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000505894	T;T;T|.	0.58506|.	0.37;0.39;0.33|.	5.45|5.45	5.45|5.45	0.79879|0.79879	WD40 repeat-like-containing domain (1);|.	0.117452|.	0.64402|.	D|.	0.000019|.	T|T	0.47673|0.47673	0.1458|0.1458	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.58268|.	0.982;0.982|.	P;P|.	0.55260|.	0.772;0.772|.	T|T	0.42378|0.42378	-0.9455|-0.9455	10|5	0.56958|.	D|.	0.05|.	-19.268|-19.268	19.6593|19.6593	0.95859|0.95859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	333;357|.	E7EQX0;Q8IZU2|.	.;WDR17_HUMAN|.	V|Y	333;333;357;340|106	ENSP00000422763:A333V;ENSP00000377258:A333V;ENSP00000280190:A357V|.	ENSP00000280190:A357V|.	A|H	+|+	2|1	0|0	WDR17|WDR17	177289783|177289783	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.124000|0.124000	0.20399|0.20399	4.447000|4.447000	0.60020|0.60020	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.398	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			76	143	0	0	0	1	0	76	143				
MTNR1A	4543	broad.mit.edu	37	4	187455433	187455433	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187455433T>G	ENST00000307161.5	-	2	664	c.463A>C	c.(463-465)Acg>Ccg	p.T155P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	155					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCCGCCAGCGTCAGGAGCCAT	0.597																																						ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(463-465)Acg>Ccg		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						141.0	103.0	116.0					4																	187455433		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455433T>G		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.463A>C	4.37:g.187455433T>G	ENSP00000302811:p.Thr155Pro					RP11-215A19.2_ENST00000509111.1_Intron	p.T155P	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	664	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	155					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.463A>C	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.406260	0.42715	.	.	ENSG00000168412	ENST00000307161	T	0.36699	1.24	4.96	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.048990	0.85682	D	0.000000	T	0.53753	0.1816	M	0.66378	2.025	0.58432	D	0.999999	D	0.63880	0.993	D	0.71184	0.972	T	0.57341	-0.7828	10	0.87932	D	0	-21.8769	9.9956	0.41898	0.0:0.0802:0.0:0.9198	.	155	P48039	MTR1A_HUMAN	P	155	ENSP00000302811:T155P	ENSP00000302811:T155P	T	-	1	0	MTNR1A	187692427	1.000000	0.71417	0.788000	0.31933	0.009000	0.06853	6.143000	0.71756	1.860000	0.53959	0.533000	0.62120	ACG		0.597	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			3	29	0	0	0	1	0	3	29				
CRB1	23418	broad.mit.edu	37	1	197326118	197326118	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197326118C>A	ENST00000367400.3	+	5	1281	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	CRB1_ENST00000535699.1_Silent_p.V313V|CRB1_ENST00000367399.2_Silent_p.V270V|CRB1_ENST00000538660.1_Silent_p.V382V|CRB1_ENST00000543483.1_Silent_p.V81V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	382	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGTTATGTCTGTATCTGTC	0.468																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1144-1146)gtC>gtA		crumbs homolog 1 (Drosophila)							148.0	125.0	132.0					1																	197326118		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197326118C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1146C>A	1.37:g.197326118C>A						CRB1_ENST00000367399.2_Silent_p.V270V|CRB1_ENST00000543483.1_Silent_p.V81V|CRB1_ENST00000538660.1_Silent_p.V382V|CRB1_ENST00000535699.1_Silent_p.V313V	p.V382V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			5	1281	+			382			EGF-like 9.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1146C>A	CCDS1390.1																																																																																				0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		10	62	1	0	2.80697e-09	1	3.39963e-09	10	62				
C3orf35	339883	broad.mit.edu	37	3	37458932	37458932	+	Nonsense_Mutation	SNP	C	C	T	rs528742914		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37458932C>T	ENST00000328376.5	+	5	1154	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	C3orf35_ENST00000452017.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000425564.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000426078.1_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Nonsense_Mutation_p.Q59*	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	59						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATGGGCCTGCAGGGCAGTGC	0.453																																						ENST00000328376.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(175-177)Cag>Tag		chromosome 3 open reading frame 35							112.0	108.0	110.0					3																	37458932		1895	4102	5997	SO:0001587	stop_gained	339883					integral to membrane		g.chr3:37458932C>T	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.175C>T	3.37:g.37458932C>T	ENSP00000331625:p.Gln59*					C3orf35_ENST00000426078.1_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000452017.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000425932.1_Nonsense_Mutation_p.Q59*	p.Q59*	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN			5	1154	+			59					B7ZMA0|Q8IVJ5|Q8IVJ9	Nonsense_Mutation	SNP	ENST00000328376.5	37	c.175C>T	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	C	42	9.530756	0.99196	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999881	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.4276	0.55556	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000331625:Q59X	Q	+	1	0	C3orf35	37433936	0.001000	0.12720	0.322000	0.25334	0.989000	0.77384	0.399000	0.20916	2.648000	0.89879	0.563000	0.77884	CAG		0.453	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		30	44	0	0	0	1	0	30	44				
DLEC1	9940	broad.mit.edu	37	3	38105394	38105394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38105394T>C	ENST00000308059.6	+	6	1178	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T	DLEC1_ENST00000346219.3_Missense_Mutation_p.I386T|DLEC1_ENST00000452631.2_Missense_Mutation_p.I386T|DLEC1_ENST00000469151.1_3'UTR					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATTATGAAATTGGTCCAGTT	0.368																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1156-1158)aTt>aCt		deleted in lung and esophageal cancer 1							175.0	163.0	167.0					3																	38105394		1836	4085	5921	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38105394T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1157T>C	3.37:g.38105394T>C	ENSP00000308597:p.Ile386Thr					DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.I386T|DLEC1_ENST00000346219.3_Missense_Mutation_p.I386T	p.I386T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	6	1178	+			386						Missense_Mutation	SNP	ENST00000308059.6	37	c.1157T>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	13.54	2.268188	0.40095	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06142	3.35;3.34;3.57	4.67	4.67	0.58626	.	0.122821	0.53938	D	0.000051	T	0.09113	0.0225	M	0.69823	2.125	0.33617	D	0.604343	P;P;P;P	0.43094	0.799;0.799;0.481;0.799	B;B;B;B	0.39258	0.217;0.295;0.217;0.295	T	0.18493	-1.0335	10	0.33141	T	0.24	-9.7622	10.426	0.44378	0.0:0.0:0.0:1.0	.	386;386;386;386	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	T	386	ENSP00000308597:I386T;ENSP00000315914:I386T;ENSP00000410427:I386T	ENSP00000308597:I386T	I	+	2	0	DLEC1	38080398	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.241000	0.58707	1.949000	0.56562	0.528000	0.53228	ATT		0.368	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		9	108	0	0	0	1	0	9	108				
TGFBRAP1	9392	broad.mit.edu	37	2	105896980	105896980	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105896980G>A	ENST00000393359.2	-	6	1748	c.1322C>T	c.(1321-1323)gCa>gTa	p.A441V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A441V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	441					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTAGCCATTTGCTACCTCTGT	0.562																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1321-1323)gCa>gTa		transforming growth factor, beta receptor associated protein 1							152.0	124.0	133.0					2																	105896980		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105896980G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1322C>T	2.37:g.105896980G>A	ENSP00000377027:p.Ala441Val					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A441V	p.A441V			Q8WUH2	TGFA1_HUMAN			6	1748	-			441					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1322C>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529624	0.27387	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.46451	0.87;0.87	5.29	4.42	0.53409	.	0.110191	0.64402	N	0.000008	T	0.31575	0.0801	L	0.29908	0.895	0.58432	D	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.05354	-1.0890	10	0.28530	T	0.3	-10.11	13.8994	0.63794	0.0736:0.0:0.9264:0.0	.	441	Q8WUH2	TGFA1_HUMAN	V	441	ENSP00000377027:A441V;ENSP00000258449:A441V	ENSP00000258449:A441V	A	-	2	0	TGFBRAP1	105263412	1.000000	0.71417	0.027000	0.17364	0.169000	0.22640	5.366000	0.66122	1.221000	0.43506	0.650000	0.86243	GCA		0.562	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		23	34	0	0	0	1	0	23	34				
MYH3	4621	broad.mit.edu	37	17	10543493	10543493	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10543493G>T	ENST00000583535.1	-	22	2589	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L	MYH3_ENST00000226209.7_Missense_Mutation_p.F834L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	834					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGATCTTGAAGAAGAGTTTCA	0.458																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(2500-2502)ttC>ttA		myosin, heavy chain 3, skeletal muscle, embryonic							134.0	125.0	128.0					17																	10543493		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543493G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2502C>A	17.37:g.10543493G>T	ENSP00000464317:p.Phe834Leu					MYH3_ENST00000226209.7_Missense_Mutation_p.F834L	p.F834L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			22	2589	-			834					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2502C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790311	0.50102	.	.	ENSG00000109063	ENST00000226209	D	0.92699	-3.09	5.4	-0.308	0.12773	.	.	.	.	.	D	0.90045	0.6891	M	0.67953	2.075	0.37142	D	0.901746	B	0.22146	0.065	B	0.30943	0.122	D	0.85123	0.0970	9	0.48119	T	0.1	.	10.542	0.45039	0.3499:0.0:0.6501:0.0	.	834	P11055	MYH3_HUMAN	L	834	ENSP00000226209:F834L	ENSP00000226209:F834L	F	-	3	2	MYH3	10484218	0.999000	0.42202	0.971000	0.41717	0.986000	0.74619	2.231000	0.43009	0.042000	0.15717	0.561000	0.74099	TTC		0.458	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		48	60	1	0	2.77807e-22	1	3.66633e-22	48	60				
KIF23	9493	broad.mit.edu	37	15	69732275	69732275	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69732275T>C	ENST00000260363.4	+	16	1863	c.1746T>C	c.(1744-1746)taT>taC	p.Y582Y	KIF23_ENST00000559279.1_Silent_p.Y582Y|KIF23_ENST00000352331.4_Silent_p.Y582Y|KIF23_ENST00000395392.2_Silent_p.Y582Y|KIF23_ENST00000558585.1_Silent_p.Y399Y|KIF23_ENST00000537891.1_Silent_p.Y399Y	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	582					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTACTATCTATGAGGAAGATA	0.358																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1744-1746)taT>taC		kinesin family member 23							65.0	62.0	63.0					15																	69732275		2199	4298	6497	SO:0001819	synonymous_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69732275T>C	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1746T>C	15.37:g.69732275T>C						KIF23_ENST00000352331.4_Silent_p.Y582Y|KIF23_ENST00000558585.1_Silent_p.Y399Y|KIF23_ENST00000537891.1_Silent_p.Y399Y|KIF23_ENST00000395392.2_Silent_p.Y582Y|KIF23_ENST00000559279.1_Silent_p.Y582Y	p.Y582Y	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			16	1863	+			582					Q8WVP0	Silent	SNP	ENST00000260363.4	37	c.1746T>C	CCDS32278.1																																																																																				0.358	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	25	0	0	0	1	0	10	25				
CA10	56934	broad.mit.edu	37	17	50008453	50008453	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:50008453A>C	ENST00000285273.4	-	4	1287	c.176T>G	c.(175-177)cTt>cGt	p.L59R	CA10_ENST00000340813.6_Missense_Mutation_p.L65R|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.L59R|CA10_ENST00000451037.2_Missense_Mutation_p.L59R	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	59					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CACAGAGCAAAGATTCCAAGC	0.468																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(175-177)cTt>cGt		carbonic anhydrase X							171.0	160.0	164.0					17																	50008453		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:50008453A>C	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.176T>G	17.37:g.50008453A>C	ENSP00000285273:p.Leu59Arg					CA10_ENST00000285273.4_Missense_Mutation_p.L59R|CA10_ENST00000442502.2_Missense_Mutation_p.L59R|CA10_ENST00000340813.6_Missense_Mutation_p.L65R|CA10_ENST00000570565.1_5'UTR	p.L59R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1116	-			59					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.176T>G	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.037267	0.93630	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.93	5.93	0.95920	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.84197	0.5419	M	0.64567	1.98	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83937	0.0309	9	.	.	.	.	15.5755	0.76380	1.0:0.0:0.0:0.0	.	59;65	Q9NS85;Q68D28	CAH10_HUMAN;.	R	59;59;59;65	ENSP00000390666:L59R;ENSP00000285273:L59R;ENSP00000405388:L59R;ENSP00000340363:L65R	.	L	-	2	0	CA10	47363452	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.730000	0.91510	2.281000	0.76405	0.533000	0.62120	CTT		0.468	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		14	117	0	0	0	1	0	14	117				
OMD	4958	broad.mit.edu	37	9	95179567	95179567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95179567G>A	ENST00000375550.4	-	2	549	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	92					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGCTGAATGTGCATCGGAATA	0.383			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(274-276)Cac>Tac		osteomodulin							226.0	210.0	216.0					9																	95179567		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179567G>A	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.274C>T	9.37:g.95179567G>A	ENSP00000364700:p.His92Tyr					CENPP_ENST00000375587.3_Intron	p.H92Y	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	549	-			92					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.274C>T	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	g	11.43	1.635366	0.29068	.	.	ENSG00000127083	ENST00000375550	T	0.04406	3.63	5.41	3.58	0.41010	Leucine-rich repeat-containing N-terminal (1);	0.072996	0.52532	D	0.000064	T	0.06826	0.0174	L	0.48877	1.53	0.09310	N	0.999995	B	0.18968	0.032	B	0.21917	0.037	T	0.20438	-1.0275	10	0.45353	T	0.12	-8.4959	14.695	0.69115	0.0817:0.0:0.9183:0.0	.	92	Q99983	OMD_HUMAN	Y	92	ENSP00000364700:H92Y	ENSP00000364700:H92Y	H	-	1	0	OMD	94219388	0.943000	0.32029	0.564000	0.28396	0.943000	0.58893	2.005000	0.40864	0.780000	0.33566	0.585000	0.79938	CAC		0.383	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		70	138	0	0	0	1	0	70	138				
TLN2	83660	broad.mit.edu	37	15	62994230	62994230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62994230C>T	ENST00000561311.1	+	17	1966	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	TLN2_ENST00000306829.6_Missense_Mutation_p.A579V			Q9Y4G6	TLN2_HUMAN	talin 2	579					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGGGATGTGCGATCACCACT	0.537																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1735-1737)gCg>gTg		talin 2							107.0	84.0	92.0					15																	62994230		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62994230C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1736C>T	15.37:g.62994230C>T	ENSP00000453508:p.Ala579Val					TLN2_ENST00000306829.6_Missense_Mutation_p.A579V	p.A579V			Q9Y4G6	TLN2_HUMAN			17	1966	+			579					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1736C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574537	0.96553	.	.	ENSG00000171914	ENST00000306829	T	0.72051	-0.62	5.1	5.1	0.69264	Talin, central (3);	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.87186	0.2231	10	0.87932	D	0	-15.7374	18.8833	0.92365	0.0:1.0:0.0:0.0	.	579	Q9Y4G6	TLN2_HUMAN	V	579	ENSP00000303476:A579V	ENSP00000303476:A579V	A	+	2	0	TLN2	60781522	1.000000	0.71417	0.953000	0.39169	0.960000	0.62799	7.776000	0.85560	2.532000	0.85374	0.561000	0.74099	GCG		0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			22	31	0	0	0	1	0	22	31				
ATP7A	538	broad.mit.edu	37	X	77254148	77254148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77254148G>T	ENST00000341514.6	+	5	1665	c.1510G>T	c.(1510-1512)Gca>Tca	p.A504S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A504S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	504	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTCCTGTGTAGCAAACATTGA	0.408																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1510-1512)Gca>Tca		ATPase, Cu++ transporting, alpha polypeptide							163.0	145.0	151.0					X																	77254148		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77254148G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1510G>T	X.37:g.77254148G>T	ENSP00000345728:p.Ala504Ser					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A504S	p.A504S	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			5	1665	+			504			HMA 5.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1510G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772288	0.49680	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.87256	-2.23;-2.23	5.37	5.37	0.77165	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.175789	0.49916	D	0.000132	T	0.79106	0.4390	N	0.12920	0.275	0.80722	D	1	B;P	0.37688	0.067;0.605	B;B	0.42163	0.167;0.378	T	0.76561	-0.2914	10	0.02654	T	1	-7.6458	18.4269	0.90612	0.0:0.0:1.0:0.0	.	504;514	Q04656;Q59HD1	ATP7A_HUMAN;.	S	504;504;514	ENSP00000343026:A504S;ENSP00000345728:A504S	ENSP00000345728:A504S	A	+	1	0	ATP7A	77140804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.309000	0.65774	2.379000	0.81126	0.600000	0.82982	GCA		0.408	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		43	84	1	0	1.3203e-36	1	1.77731e-36	43	84				
RNF135	84282	broad.mit.edu	37	17	29325990	29325990	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29325990G>T	ENST00000328381.5	+	5	1953	c.1080G>T	c.(1078-1080)tgG>tgT	p.W360C	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	360	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TCTCTGCATGGCACATGGTCA	0.562																																						ENST00000328381.5																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(1078-1080)tgG>tgT		ring finger protein 135							88.0	80.0	83.0					17																	29325990		2203	4300	6503	SO:0001583	missense	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325990G>T	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.1080G>T	17.37:g.29325990G>T	ENSP00000328340:p.Trp360Cys					RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	p.W360C	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN			5	1953	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	360			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	c.1080G>T	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691765	0.68271	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.61980	0.06	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.42172	D	0.000752	T	0.79563	0.4467	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79092	-0.1945	10	0.37606	T	0.19	-11.1584	16.3223	0.82954	0.0:0.0:1.0:0.0	.	360	Q8IUD6	RN135_HUMAN	C	360;179	ENSP00000328340:W360C	ENSP00000328340:W360C	W	+	3	0	RNF135	26350116	1.000000	0.71417	0.575000	0.28536	0.941000	0.58515	6.441000	0.73439	2.543000	0.85770	0.561000	0.74099	TGG		0.562	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		18	37	1	0	1.40151e-16	1	1.80976e-16	18	37				
NAT8L	339983	broad.mit.edu	37	4	2065625	2065625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2065625C>T	ENST00000423729.2	+	3	680	c.680C>T	c.(679-681)gCg>gTg	p.A227V	NAT8L_ENST00000331662.3_Missense_Mutation_p.A59V	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	227	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			ATCGCCAAGGCGCTGGGCCGG	0.662																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(679-681)gCg>gTg		N-acetyltransferase 8-like (GCN5-related, putative)							74.0	58.0	63.0					4																	2065625		2202	4299	6501	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065625C>T	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.680C>T	4.37:g.2065625C>T	ENSP00000413064:p.Ala227Val					NAT8L_ENST00000331662.3_Missense_Mutation_p.A59V	p.A227V	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	680	+			227			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.680C>T	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	C	33	5.234256	0.95207	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.25912	1.77;1.77	5.54	4.64	0.57946	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.143243	0.45867	U	0.000333	T	0.50377	0.1612	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.47005	-0.9150	10	0.31617	T	0.26	-34.2977	15.5113	0.75786	0.0:0.8613:0.1387:0.0	.	227	Q8N9F0	NAT8L_HUMAN	V	227;59	ENSP00000413064:A227V;ENSP00000328464:A59V	ENSP00000328464:A59V	A	+	2	0	NAT8L	2035423	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.820000	0.62671	2.604000	0.88044	0.450000	0.29827	GCG		0.662	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		4	42	0	0	0	1	0	4	42				
TOM1L2	146691	broad.mit.edu	37	17	17751069	17751069	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17751069G>T	ENST00000379504.3	-	15	1487	c.1404C>A	c.(1402-1404)gcC>gcA	p.A468A	TOM1L2_ENST00000318094.10_Silent_p.A423A|TOM1L2_ENST00000581396.1_Silent_p.A418A|TOM1L2_ENST00000535933.1_Silent_p.A444A|TOM1L2_ENST00000540946.1_Silent_p.A350A|TOM1L2_ENST00000478943.1_Silent_p.A201A|TOM1L2_ENST00000542206.1_Silent_p.A349A|TOM1L2_ENST00000395739.4_Silent_p.A423A	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	468					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAGCAGCTTTGGCTCTTTCTT	0.582																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1252-1254)gcC>gcA		target of myb1-like 2 (chicken)							98.0	106.0	103.0					17																	17751069		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17751069G>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1404C>A	17.37:g.17751069G>T						TOM1L2_ENST00000542206.1_Silent_p.A349A|TOM1L2_ENST00000318094.10_Silent_p.A423A|TOM1L2_ENST00000535933.1_Silent_p.A444A|TOM1L2_ENST00000540946.1_Silent_p.A350A|TOM1L2_ENST00000379504.3_Silent_p.A468A|TOM1L2_ENST00000395739.4_Silent_p.A423A|TOM1L2_ENST00000478943.1_Silent_p.A201A	p.A418A	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			14	1350	-	all_neural(463;0.228)		468					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.1254C>A	CCDS42270.1																																																																																				0.582	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			7	66	1	0	0.000157383	1	0.00017284	7	66				
MTSS1	9788	broad.mit.edu	37	8	125575091	125575091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125575091C>A	ENST00000518547.1	-	10	1440	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MTSS1_ENST00000325064.5_Nonsense_Mutation_p.G327*|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.G123*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Nonsense_Mutation_p.G323*|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.G213*|MTSS1_ENST00000395508.2_Nonsense_Mutation_p.G57*|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.G123*	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	323	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATATGAATCCTGAGTCATGG	0.622																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(967-969)Gga>Tga		metastasis suppressor 1							66.0	59.0	61.0					8																	125575091		2203	4300	6503	SO:0001587	stop_gained	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125575091C>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.967G>T	8.37:g.125575091C>A	ENSP00000429064:p.Gly323*					MTSS1_ENST00000395508.2_Nonsense_Mutation_p.G57*|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.G123*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Nonsense_Mutation_p.G323*|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.G213*|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.G123*|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.G327*	p.G323*	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	1440	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		323			Ser-rich.		J3KNK6|Q8TCA2|Q96RX2	Nonsense_Mutation	SNP	ENST00000518547.1	37	c.967G>T	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.693909|5.693909	0.96793|0.96793	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118|ENST00000519168;ENST00000523179	.|.	.|.	.|.	5.6|5.6	4.7|4.7	0.59300|0.59300	.|.	0.055769|.	0.64402|.	D|.	0.000001|.	.|T	.|0.71108	.|0.3301	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74636	.|-0.3599	.|3	0.66056|.	D|.	0.02|.	-14.5527|-14.5527	15.9559|15.9559	0.79886|0.79886	0.136:0.864:0.0:0.0|0.136:0.864:0.0:0.0	.|.	.|.	.|.	.|.	X|M	323;323;123;57;327;123;213;123|70;170	.|.	ENSP00000322804:G327X|.	G|R	-|-	1|2	0|0	MTSS1|MTSS1	125644272|125644272	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.706000|0.706000	0.40770|0.40770	7.818000|7.818000	0.86416|0.86416	1.452000|1.452000	0.47756|0.47756	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.622	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		18	33	1	0	4.96729e-08	1	5.9048e-08	18	33				
MRPL40	64976	broad.mit.edu	37	22	19423208	19423208	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19423208C>T	ENST00000333130.3	+	4	997	c.344C>T	c.(343-345)gCt>gTt	p.A115V	HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	115					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAGGAGAGCTCTGCTTCTG	0.532																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(343-345)gCt>gTt		mitochondrial ribosomal protein L40							203.0	209.0	207.0					22																	19423208		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423208C>T	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.344C>T	22.37:g.19423208C>T	ENSP00000333401:p.Ala115Val					HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000471259.1_3'UTR	p.A115V	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			4	997	+	Colorectal(54;0.0993)		115					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.344C>T	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302136	0.81136	.	.	ENSG00000185608	ENST00000333130	T	0.47528	0.84	5.22	5.22	0.72569	.	0.168293	0.51477	D	0.000098	T	0.50701	0.1631	L	0.52364	1.645	0.80722	D	1	P	0.42375	0.778	P	0.49332	0.607	T	0.35351	-0.9792	10	0.26408	T	0.33	-10.4956	12.7232	0.57154	0.0:0.915:0.0:0.085	.	115	Q9NQ50	RM40_HUMAN	V	115	ENSP00000333401:A115V	ENSP00000333401:A115V	A	+	2	0	MRPL40	17803208	0.996000	0.38824	0.999000	0.59377	0.977000	0.68977	3.324000	0.52022	2.700000	0.92200	0.563000	0.77884	GCT		0.532	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		27	273	0	0	0	1	0	27	273				
FBXO36	130888	broad.mit.edu	37	2	230861496	230861496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230861496A>G	ENST00000283946.3	+	3	253	c.235A>G	c.(235-237)Ata>Gta	p.I79V	FBXO36_ENST00000373652.3_Missense_Mutation_p.I48V|FBXO36_ENST00000409992.1_Intron	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	79										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTGCAAGAATATTAGACTA	0.333																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(142-144)Ata>Gta		F-box protein 36							148.0	145.0	146.0					2																	230861496		2203	4300	6503	SO:0001583	missense	130888							g.chr2:230861496A>G	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.235A>G	2.37:g.230861496A>G	ENSP00000283946:p.Ile79Val					FBXO36_ENST00000283946.3_Missense_Mutation_p.I79V|FBXO36_ENST00000409992.1_Intron	p.I48V			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	563	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	79					B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	c.142A>G	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	A	0.065	-1.215321	0.01542	.	.	ENSG00000153832	ENST00000373652;ENST00000283946	T;T	0.44881	0.91;0.94	5.37	1.82	0.25136	.	0.182221	0.45126	N	0.000400	T	0.22126	0.0533	L	0.28192	0.835	0.29216	N	0.874221	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.27502	-1.0072	10	0.02654	T	1	-10.8589	8.7914	0.34852	0.78:0.0:0.22:0.0	.	48;79	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	V	48;79	ENSP00000362756:I48V;ENSP00000283946:I79V	ENSP00000283946:I79V	I	+	1	0	FBXO36	230569740	0.018000	0.18449	0.710000	0.30468	0.004000	0.04260	0.178000	0.16820	0.883000	0.36040	-0.379000	0.06801	ATA		0.333	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		53	73	0	0	0	1	0	53	73				
ASH1L	55870	broad.mit.edu	37	1	155449532	155449532	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155449532T>C	ENST00000368346.3	-	3	3768	c.3129A>G	c.(3127-3129)ggA>ggG	p.G1043G	ASH1L_ENST00000392403.3_Silent_p.G1043G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1043					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TATAAATGGTTCCTTTCTTGC	0.398																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3127-3129)ggA>ggG		ash1 (absent, small, or homeotic)-like (Drosophila)							66.0	68.0	67.0					1																	155449532		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449532T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3129A>G	1.37:g.155449532T>C						ASH1L_ENST00000392403.3_Silent_p.G1043G	p.G1043G			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3768	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1043					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.3129A>G																																																																																					0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		15	75	0	0	0	1	0	15	75				
FKBP10	60681	broad.mit.edu	37	17	39973393	39973393	+	Missense_Mutation	SNP	G	G	A	rs137853882		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39973393G>A	ENST00000321562.4	+	2	433	c.329G>A	c.(328-330)tGt>tAt	p.C110Y	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	110	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.		Missing (in OI11).		chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGGGCATGTGTGTCAACGAG	0.662																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(328-330)tGt>tAt		FK506 binding protein 10, 65 kDa							122.0	103.0	109.0					17																	39973393		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39973393G>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.329G>A	17.37:g.39973393G>A	ENSP00000317232:p.Cys110Tyr						p.C110Y	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	2	433	+		Breast(137;0.00122)	110		Missing (in OI6).	PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.329G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763892	0.89932	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.85861	-2.04;-2.04	5.13	5.13	0.70059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	M	0.91354	3.2	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.94777	0.7950	10	0.56958	D	0.05	-14.0029	18.5825	0.91177	0.0:0.0:1.0:0.0	.	110	Q96AY3	FKB10_HUMAN	Y	110;50;110;110	ENSP00000408232:C50Y;ENSP00000317232:C110Y	ENSP00000269598:C110Y	C	+	2	0	FKBP10	37226919	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.603000	0.98315	2.408000	0.81797	0.561000	0.74099	TGT		0.662	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		25	51	0	0	0	1	0	25	51				
PCDHGA1	56114	broad.mit.edu	37	5	140711020	140711020	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711020C>A	ENST00000517417.1	+	1	769	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L257M	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGTGCCGCTGGGTACTCA	0.493																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(769-771)Ctg>Atg									64.0	64.0	64.0					5																	140711020		2203	4300	6503	SO:0001583	missense	0							g.chr5:140711020C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.769C>A	5.37:g.140711020C>A	ENSP00000431083:p.Leu257Met					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L257M	p.L257M	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	769	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.769C>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199352	0.06219	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.21361	2.01;2.01	4.2	2.37	0.29283	Cadherin (4);Cadherin-like (1);	0.439888	0.16697	N	0.203317	T	0.19167	0.0460	L	0.55017	1.72	0.09310	N	1	B;B	0.29232	0.031;0.238	B;B	0.33121	0.023;0.158	T	0.23119	-1.0197	10	0.56958	D	0.05	.	4.0587	0.09829	0.1453:0.3488:0.4123:0.0936	.	257;257	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	M	257	ENSP00000431083:L257M;ENSP00000367345:L257M	ENSP00000367345:L257M	L	+	1	2	PCDHGA1	140691204	0.000000	0.05858	0.048000	0.18961	0.007000	0.05969	-1.763000	0.01802	0.514000	0.28300	-0.150000	0.13652	CTG		0.493	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		3	49	1	0	0.004672	1	0.0049138	3	49				
ZNF157	7712	broad.mit.edu	37	X	47272259	47272259	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272259A>C	ENST00000377073.3	+	4	873	c.787A>C	c.(787-789)Att>Ctt	p.I263L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	263					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACCCTCACGATTCATCAGAG	0.433																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(787-789)Att>Ctt		zinc finger protein 157							54.0	48.0	50.0					X																	47272259		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272259A>C	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.787A>C	X.37:g.47272259A>C	ENSP00000366273:p.Ile263Leu						p.I263L	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	873	+			263					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.787A>C	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	A	8.790	0.930365	0.18131	.	.	ENSG00000147117	ENST00000377073	T	0.17854	2.25	3.09	-0.81	0.10860	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06050	0.0157	N	0.03930	-0.32	0.09310	N	1	B	0.30634	0.288	B	0.29524	0.103	T	0.40459	-0.9562	9	0.24483	T	0.36	.	5.7796	0.18299	0.5581:0.0:0.4419:0.0	.	263	P51786	ZN157_HUMAN	L	263	ENSP00000366273:I263L	ENSP00000366273:I263L	I	+	1	0	ZNF157	47157203	0.000000	0.05858	0.052000	0.19188	0.754000	0.42855	0.018000	0.13422	-0.273000	0.09246	0.486000	0.48141	ATT		0.433	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		6	41	0	0	0	1	0	6	41				
PRDM15	63977	broad.mit.edu	37	21	43222908	43222908	+	Silent	SNP	G	G	A	rs374593622		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43222908G>A	ENST00000269844.3	-	30	4115	c.4005C>T	c.(4003-4005)ggC>ggT	p.G1335G	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Silent_p.G1026G|PRDM15_ENST00000538201.1_Silent_p.G989G|PRDM15_ENST00000398548.1_Silent_p.G1006G|PRDM15_ENST00000447207.2_Silent_p.G969G	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G1335G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGTCTCGTCGCCTACACTGC	0.542																																						ENST00000422911.1																			1	Substitution - coding silent(1)	p.G1335G(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3076-3078)ggC>ggT		PR domain containing 15			,	0,4406		0,0,2203	203.0	199.0	200.0		3018,4005	-5.9	1.0	21		200	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRDM15	NM_001040424.1,NM_022115.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1006/1179,1335/1508	43222908	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43222908G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4005C>T	21.37:g.43222908G>A						PRDM15_ENST00000447207.2_Silent_p.G969G|PRDM15_ENST00000538201.1_Silent_p.G989G|PRDM15_ENST00000269844.3_Silent_p.G1335G|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Silent_p.G1006G	p.G1026G			P57071	PRD15_HUMAN			24	3179	-			1335					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.3078C>T	CCDS13676.1																																																																																				0.542	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		68	108	0	0	0	1	0	68	108				
PTCHD2	57540	broad.mit.edu	37	1	11575545	11575545	+	Missense_Mutation	SNP	G	G	A	rs376513197		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11575545G>A	ENST00000294484.6	+	5	1711	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	525	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGCCTTCGTGATCGTGGG	0.587																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1573-1575)Gtg>Atg		patched domain containing 2		G	MET/VAL	0,4258		0,0,2129	152.0	145.0	147.0		1573	5.8	1.0	1		147	1,8499		0,1,4249	no	missense	PTCHD2	NM_020780.1	21	0,1,6378	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	525/1393	11575545	1,12757	2129	4250	6379	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11575545G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1573G>A	1.37:g.11575545G>A	ENSP00000294484:p.Val525Met					PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	5	1711	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	525			SSD.		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1573G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234943	0.79800	0.0	1.18E-4	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85629	-2.01;-2.01	5.79	5.79	0.91817	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91648	0.5332	10	0.87932	D	0	-28.0638	19.0281	0.92941	0.0:0.0:1.0:0.0	.	525	Q9P2K9	PTHD2_HUMAN	M	525	ENSP00000294484:V525M;ENSP00000374226:V525M	ENSP00000294484:V525M	V	+	1	0	PTCHD2	11498132	1.000000	0.71417	0.966000	0.40874	0.513000	0.34164	9.706000	0.98722	2.733000	0.93635	0.655000	0.94253	GTG		0.587	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		18	30	0	0	0	1	0	18	30				
ZNF703	80139	broad.mit.edu	37	8	37555577	37555577	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37555577C>T	ENST00000331569.4	+	2	1387	c.1158C>T	c.(1156-1158)caC>caT	p.H386H		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	386	Gly-rich.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GAGGTTACCACGGCGCCTCGC	0.736																																						ENST00000331569.4																		FGFR1/ZNF703(2)	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7						c.(1156-1158)caC>caT		zinc finger protein 703																																				SO:0001819	synonymous_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37555577C>T	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1158C>T	8.37:g.37555577C>T							p.H386H	NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		2	1387	+			386			Gly-rich.		Q5XG76	Silent	SNP	ENST00000331569.4	37	c.1158C>T	CCDS6094.1																																																																																				0.736	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		5	4	0	0	0	1	0	5	4				
TRIM63	84676	broad.mit.edu	37	1	26383727	26383727	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26383727C>A	ENST00000374272.3	-	7	1084	c.946G>T	c.(946-948)Gca>Tca	p.A316S		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	316	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTCTGCTATGTGCTCT	0.532																																						ENST00000374272.3																			0				kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(946-948)Gca>Tca		tripartite motif containing 63, E3 ubiquitin protein ligase							151.0	134.0	139.0					1																	26383727		2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26383727C>A	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.946G>T	1.37:g.26383727C>A	ENSP00000363390:p.Ala316Ser						p.A316S	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	7	1084	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	316			COS.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.946G>T	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	6.334	0.429747	0.11987	.	.	ENSG00000158022	ENST00000374272	T	0.24723	1.84	5.84	5.84	0.93424	COS domain (1);	0.275029	0.42294	D	0.000734	T	0.18425	0.0442	L	0.28192	0.835	0.09310	N	0.999998	B	0.13594	0.008	B	0.22601	0.04	T	0.12319	-1.0552	10	0.30078	T	0.28	.	10.2586	0.43412	0.0:0.8524:0.0:0.1476	.	316	Q969Q1	TRI63_HUMAN	S	316	ENSP00000363390:A316S	ENSP00000363390:A316S	A	-	1	0	TRIM63	26256314	0.000000	0.05858	0.986000	0.45419	0.025000	0.11179	-0.102000	0.10956	2.769000	0.95229	0.563000	0.77884	GCA		0.532	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		34	39	1	0	8.4185e-14	1	1.07063e-13	34	39				
ITGA8	8516	broad.mit.edu	37	10	15726009	15726009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726009G>A	ENST00000378076.3	-	4	915	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	188				R -> G (in Ref. 5; AAA93514). {ECO:0000305}.	brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACTGTTCCGGCAAGGAGAG	0.453																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(562-564)Cgg>Tgg		integrin, alpha 8							91.0	92.0	92.0					10																	15726009		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15726009G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.562C>T	10.37:g.15726009G>A	ENSP00000367316:p.Arg188Trp						p.R188W	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			4	915	-			188	R -> G (in Ref. 5; AAA93514).				B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.562C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831653	0.71258	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.54866	0.55	5.79	4.87	0.63330	.	0.051991	0.85682	D	0.000000	T	0.78477	0.4289	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84219	0.0460	10	0.72032	D	0.01	.	16.0795	0.80995	0.0:0.0:0.865:0.1349	.	188;188	F5H818;P53708	.;ITA8_HUMAN	W	188	ENSP00000367316:R188W	ENSP00000367316:R188W	R	-	1	2	ITGA8	15766015	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	6.993000	0.76245	1.417000	0.47077	0.655000	0.94253	CGG		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		27	47	0	0	0	1	0	27	47				
MMP10	4319	broad.mit.edu	37	11	102642785	102642785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102642785G>A	ENST00000279441.4	-	9	1324	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	430					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TCAACTCCTGGAAAGTCATCA	0.393																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(1288-1290)Cca>Tca		matrix metallopeptidase 10 (stromelysin 2)							112.0	98.0	103.0					11																	102642785		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102642785G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1288C>T	11.37:g.102642785G>A	ENSP00000279441:p.Pro430Ser						p.P430S	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	9	1324	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	430			Hemopexin-like 3.		B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.1288C>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758341	0.49468	.	.	ENSG00000166670	ENST00000279441	T	0.03553	3.89	4.1	3.18	0.36537	Hemopexin/matrixin (2);	0.320648	0.22649	N	0.057347	T	0.16685	0.0401	M	0.79343	2.45	0.54753	D	0.99998	D	0.89917	1.0	D	0.83275	0.996	T	0.00597	-1.1652	10	0.52906	T	0.07	.	12.5028	0.55966	0.0826:0.0:0.9174:0.0	.	430	P09238	MMP10_HUMAN	S	430	ENSP00000279441:P430S	ENSP00000279441:P430S	P	-	1	0	MMP10	102147995	1.000000	0.71417	0.977000	0.42913	0.316000	0.28119	3.922000	0.56462	1.034000	0.39945	0.650000	0.86243	CCA		0.393	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			19	35	0	0	0	1	0	19	35				
ZNF667	63934	broad.mit.edu	37	19	56972075	56972075	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56972075C>T	ENST00000504904.3	-	5	862	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.R48Q|ZNF667_ENST00000591790.1_Missense_Mutation_p.R48Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R141Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GACCAGGTTCCGGTAATTCTC	0.502																																						ENST00000591790.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(142-144)cGg>cAg		zinc finger protein 667							115.0	102.0	106.0					19																	56972075		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56972075C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.143G>A	19.37:g.56972075C>T	ENSP00000439402:p.Arg48Gln					ZNF667_ENST00000292069.6_Missense_Mutation_p.R48Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R141Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.R48Q	p.R48Q			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	3	1571	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	48			KRAB.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.143G>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	0.742	-0.775929	0.02951	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.01981	4.52;4.52;4.52	4.28	-6.1	0.02138	Krueppel-associated box (4);	1.147620	0.06781	N	0.785399	T	0.02494	0.0076	M	0.71296	2.17	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.46638	-0.9177	10	0.15952	T	0.53	0.4491	3.4741	0.07578	0.1263:0.5238:0.1286:0.2214	.	48	Q5HYK9	ZN667_HUMAN	Q	141;48;48	ENSP00000344699:R141Q;ENSP00000439402:R48Q;ENSP00000292069:R48Q	ENSP00000292069:R48Q	R	-	2	0	ZNF667	61663887	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.144000	0.03197	-1.408000	0.02040	-0.793000	0.03317	CGG		0.502	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		14	40	0	0	0	1	0	14	40				
MOCS1	4337	broad.mit.edu	37	6	39881125	39881125	+	Silent	SNP	G	G	A	rs554765057		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39881125G>A	ENST00000340692.5	-	6	696	c.693C>T	c.(691-693)gaC>gaT	p.D231D	MOCS1_ENST00000373195.3_Silent_p.D144D|MOCS1_ENST00000425303.2_Silent_p.D231D|MOCS1_ENST00000373186.4_Silent_p.D231D|MOCS1_ENST00000308559.7_Silent_p.D231D|MOCS1_ENST00000432280.2_Silent_p.D202D|MOCS1_ENST00000373175.4_Silent_p.D202D|MOCS1_ENST00000373188.2_Silent_p.D231D			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	231	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGCCGCAAAGTCCAGGAGTT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20041	0.0		0.0	False		,,,				2504	0.001				NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(691-693)gaC>gaT		molybdenum cofactor synthesis 1							111.0	97.0	102.0					6																	39881125		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39881125G>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.693C>T	6.37:g.39881125G>A						MOCS1_ENST00000308559.7_Silent_p.D231D|MOCS1_ENST00000432280.2_Silent_p.D202D|MOCS1_ENST00000373188.2_Silent_p.D231D|MOCS1_ENST00000425303.2_Silent_p.D231D|MOCS1_ENST00000373195.3_Silent_p.D144D|MOCS1_ENST00000373175.4_Silent_p.D202D|MOCS1_ENST00000340692.5_Silent_p.D231D	p.D231D	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			5	830	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		231			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.693C>T																																																																																					0.567	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		19	13	0	0	0	1	0	19	13				
IQCD	115811	broad.mit.edu	37	12	113645772	113645772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113645772G>A	ENST00000416617.2	-	2	390	c.200C>T	c.(199-201)aCc>aTc	p.T67I	IQCD_ENST00000546692.1_Missense_Mutation_p.T67I|IQCD_ENST00000299732.2_Missense_Mutation_p.T67I			Q96DY2	IQCD_HUMAN	IQ motif containing D	67										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGACAGCAAGGTCACCAGCTC	0.537																																						ENST00000546692.1																			0				endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(199-201)aCc>aTc		IQ motif containing D							290.0	243.0	259.0					12																	113645772		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645772G>A	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.200C>T	12.37:g.113645772G>A	ENSP00000400669:p.Thr67Ile					IQCD_ENST00000416617.2_Missense_Mutation_p.T67I|IQCD_ENST00000299732.2_Missense_Mutation_p.T67I	p.T67I			Q96DY2	IQCD_HUMAN			2	573	-			67					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.200C>T		.	.	.	.	.	.	.	.	.	.	G	14.48	2.549286	0.45383	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.09911	2.93;2.93;2.93	4.58	2.66	0.31614	.	0.241900	0.35525	N	0.003147	T	0.28300	0.0699	M	0.64997	1.995	0.25621	N	0.986403	D;D	0.76494	0.999;0.989	D;D	0.77557	0.99;0.92	T	0.05131	-1.0904	10	0.87932	D	0	-29.7961	13.3112	0.60380	0.0:0.4654:0.5346:0.0	.	67;67	F8VZV9;Q96DY2-2	.;.	I	67	ENSP00000299732:T67I;ENSP00000400669:T67I;ENSP00000446623:T67I	ENSP00000299732:T67I	T	-	2	0	IQCD	112130155	0.988000	0.35896	0.536000	0.28039	0.404000	0.30871	2.066000	0.41452	0.506000	0.28125	0.563000	0.77884	ACC		0.537	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		53	94	0	0	0	1	0	53	94				
FNBP1	23048	broad.mit.edu	37	9	132662789	132662789	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132662789C>T	ENST00000446176.2	-	14	1652	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	FNBP1_ENST00000443566.2_Missense_Mutation_p.R117H|FNBP1_ENST00000355681.3_Missense_Mutation_p.R460H|FNBP1_ENST00000420781.1_Missense_Mutation_p.R480H|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	489	Interaction with RND2. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTGCTCGCTGCGTGCTGGGAG	0.617			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(1438-1440)cGc>cAc		formin binding protein 1							27.0	30.0	29.0					9																	132662789		1981	4153	6134	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132662789C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1466G>A	9.37:g.132662789C>T	ENSP00000413625:p.Arg489His					FNBP1_ENST00000355681.3_Missense_Mutation_p.R460H|FNBP1_ENST00000446176.2_Missense_Mutation_p.R489H|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000443566.2_Missense_Mutation_p.R117H	p.R480H			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	14	1657	-		Ovarian(14;0.000536)	489			Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.1439G>A	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.75|11.75	1.732452|1.732452	0.30684|0.30684	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.|T;T;T;T	.|0.75821	.|-0.97;-0.97;-0.97;-0.97	4.02|4.02	4.02|4.02	0.46733|0.46733	.|.	.|0.123811	.|0.53938	.|D	.|0.000049	T|T	0.76241|0.76241	0.3960|0.3960	L|L	0.48642|0.48642	1.525|1.525	0.23030|0.23030	N|N	0.998406|0.998406	.|B;B;D;B;B;B;B;B	.|0.61080	.|0.004;0.007;0.989;0.004;0.003;0.004;0.007;0.009	.|B;B;P;B;B;B;B;B	.|0.53006	.|0.002;0.004;0.715;0.01;0.036;0.002;0.005;0.004	T|T	0.70000|0.70000	-0.4992|-0.4992	5|10	.|0.48119	.|T	.|0.1	-23.7981|-23.7981	15.6696|15.6696	0.77262|0.77262	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|484;479;117;423;460;440;484;489	.|B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;.;FNBP1_HUMAN	T|H	441|489;489;480;489;117;460	.|ENSP00000413625:R489H;ENSP00000407548:R480H;ENSP00000389117:R117H;ENSP00000347907:R460H	.|ENSP00000347907:R460H	A|R	-|-	1|2	0|0	FNBP1|FNBP1	131702610|131702610	0.875000|0.875000	0.30112|0.30112	0.051000|0.051000	0.19133|0.19133	0.575000|0.575000	0.36095|0.36095	2.641000|2.641000	0.46587|0.46587	2.229000|2.229000	0.72834|0.72834	0.313000|0.313000	0.20887|0.20887	GCA|CGC		0.617	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			9	7	0	0	0	1	0	9	7				
ITPR2	3709	broad.mit.edu	37	12	26809236	26809236	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26809236A>G	ENST00000381340.3	-	19	2854	c.2438T>C	c.(2437-2439)aTt>aCt	p.I813T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	813					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATACTCATGAATTGTGATCTT	0.478																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2437-2439)aTt>aCt		inositol 1,4,5-trisphosphate receptor, type 2							70.0	70.0	70.0					12																	26809236		1912	4141	6053	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26809236A>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2438T>C	12.37:g.26809236A>G	ENSP00000370744:p.Ile813Thr						p.I813T	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			19	2854	-	Colorectal(261;0.0847)		813					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2438T>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341160	0.81911	.	.	ENSG00000123104	ENST00000381340	D	0.92911	-3.13	4.62	4.62	0.57501	.	0.108389	0.64402	D	0.000009	D	0.95389	0.8503	M	0.84585	2.705	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	D	0.96022	0.9010	10	0.72032	D	0.01	.	14.4962	0.67688	1.0:0.0:0.0:0.0	.	813	Q14571	ITPR2_HUMAN	T	813	ENSP00000370744:I813T	ENSP00000370744:I813T	I	-	2	0	ITPR2	26700503	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	8.900000	0.92551	2.059000	0.61396	0.533000	0.62120	ATT		0.478	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	60	0	0	0	1	0	6	60				
GLMN	11146	broad.mit.edu	37	1	92754541	92754541	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92754541C>T	ENST00000370360.3	-	6	643	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	GLMN_ENST00000534881.1_Missense_Mutation_p.V188M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	188					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ACTTCTTCCACAAAAGGCTTA	0.333									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(562-564)Gtg>Atg		glomulin, FKBP associated protein							106.0	111.0	109.0					1																	92754541		2203	4300	6503	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92754541C>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.562G>A	1.37:g.92754541C>T	ENSP00000359385:p.Val188Met					GLMN_ENST00000534881.1_Missense_Mutation_p.V188M	p.V188M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	6	643	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	188					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.562G>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815832	0.70912	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.44083	0.93;0.93	5.43	4.51	0.55191	.	0.111853	0.64402	N	0.000011	T	0.54319	0.1851	M	0.70275	2.135	0.48135	D	0.99959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62310	-0.6881	10	0.87932	D	0	-5.8755	14.0716	0.64863	0.0:0.9272:0.0:0.0728	.	188;188	B4DJ85;Q92990	.;GLMN_HUMAN	M	188	ENSP00000359385:V188M;ENSP00000440156:V188M	ENSP00000359385:V188M	V	-	1	0	GLMN	92527129	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.310000	0.59141	1.285000	0.44548	0.585000	0.79938	GTG		0.333	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		32	97	0	0	0	1	0	32	97				
SOCS4	122809	broad.mit.edu	37	14	55509911	55509911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55509911C>T	ENST00000395472.2	+	2	484	c.152C>T	c.(151-153)aCa>aTa	p.T51I	SOCS4_ENST00000555846.1_Missense_Mutation_p.T51I|SOCS4_ENST00000339298.2_Missense_Mutation_p.T51I	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	51					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GATGCTGAGACAGTGAATGGT	0.428																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(151-153)aCa>aTa		suppressor of cytokine signaling 4							160.0	151.0	154.0					14																	55509911		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55509911C>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.152C>T	14.37:g.55509911C>T	ENSP00000378855:p.Thr51Ile					SOCS4_ENST00000339298.2_Missense_Mutation_p.T51I|SOCS4_ENST00000555846.1_Missense_Mutation_p.T51I	p.T51I	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	484	+			51						Missense_Mutation	SNP	ENST00000395472.2	37	c.152C>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	5.417	0.262105	0.10239	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.31247	1.5;1.5;1.5	5.75	5.75	0.90469	.	0.262960	0.31612	N	0.007353	T	0.24699	0.0599	N	0.19112	0.55	0.09310	N	1	B	0.27380	0.177	B	0.23852	0.049	T	0.14643	-1.0465	10	0.42905	T	0.14	-1.2331	19.9522	0.97203	0.0:1.0:0.0:0.0	.	51	Q8WXH5	SOCS4_HUMAN	I	51	ENSP00000378855:T51I;ENSP00000452522:T51I;ENSP00000341327:T51I	ENSP00000341327:T51I	T	+	2	0	SOCS4	54579664	0.113000	0.22115	0.076000	0.20297	0.027000	0.11550	3.949000	0.56668	2.725000	0.93324	0.655000	0.94253	ACA		0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			5	80	0	0	0	1	0	5	80				
ARHGEF1	9138	broad.mit.edu	37	19	42396878	42396878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396878G>A	ENST00000354532.3	+	7	720	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R158Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R173Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R206Q|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R191Q	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	191	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCGGGAGCGGCACGTGGCG	0.706																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(571-573)cGg>cAg		Rho guanine nucleotide exchange factor (GEF) 1							13.0	17.0	15.0					19																	42396878		2197	4285	6482	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396878G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.572G>A	19.37:g.42396878G>A	ENSP00000346532:p.Arg191Gln					ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R206Q|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R158Q|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R191Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R173Q	p.R191Q			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	7	697	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	191			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.572G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159037	0.78226	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.32	4.32	0.51571	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.085303	0.45867	D	0.000338	D	0.91307	0.7259	M	0.70595	2.14	0.30392	N	0.780946	D;D;D;D;D	0.89917	0.997;0.999;0.999;0.999;1.0	P;P;D;P;D	0.77557	0.824;0.817;0.99;0.8;0.944	D	0.88109	0.2824	10	0.72032	D	0.01	-22.5708	8.5885	0.33672	0.1082:0.0:0.8918:0.0	.	173;206;158;191;251	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	Q	191;158;227;206;173	ENSP00000346532:R191Q;ENSP00000344429:R158Q;ENSP00000337261:R206Q;ENSP00000367394:R173Q	ENSP00000323044:R227Q	R	+	2	0	ARHGEF1	47088718	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	1.276000	0.33156	2.157000	0.67596	0.306000	0.20318	CGG		0.706	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		6	13	0	0	0	1	0	6	13				
TNPO1	3842	broad.mit.edu	37	5	72199591	72199591	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72199591T>C	ENST00000337273.5	+	23	2996	c.2570T>C	c.(2569-2571)cTc>cCc	p.L857P	TNPO1_ENST00000506351.2_Missense_Mutation_p.L849P|TNPO1_ENST00000454282.1_Missense_Mutation_p.L807P|TNPO1_ENST00000523768.1_Missense_Mutation_p.L807P	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	857					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAAGATGATCTCAGAGACATG	0.299																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(2569-2571)cTc>cCc		transportin 1							140.0	141.0	141.0					5																	72199591		2203	4299	6502	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72199591T>C	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2570T>C	5.37:g.72199591T>C	ENSP00000336712:p.Leu857Pro					TNPO1_ENST00000506351.2_Missense_Mutation_p.L849P|TNPO1_ENST00000523768.1_Missense_Mutation_p.L807P|TNPO1_ENST00000454282.1_Missense_Mutation_p.L807P	p.L857P	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	23	2996	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	857					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.2570T>C	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293097	0.80914	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83815	0.5336	H	0.95816	3.725	0.80722	D	1	D;D	0.64830	0.974;0.994	P;P	0.62560	0.901;0.904	D	0.88861	0.3326	10	0.72032	D	0.01	-7.6568	15.6521	0.77104	0.0:0.0:0.0:1.0	.	807;857	Q92973-3;Q92973	.;TNPO1_HUMAN	P	857;807;807;849;368	ENSP00000336712:L857P;ENSP00000398524:L807P;ENSP00000428899:L807P;ENSP00000425118:L849P	ENSP00000336712:L857P	L	+	2	0	TNPO1	72235347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.107000	0.64212	0.459000	0.35465	CTC		0.299	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		39	76	0	0	0	1	0	39	76				
PCDHA1	56147	broad.mit.edu	37	5	140165879	140165879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140165879G>A	ENST00000504120.2	+	1	4	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V2M|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V2M	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	2					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCAATGGTGTTTTCTAG	0.483																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(4-6)Gtg>Atg									85.0	102.0	96.0					5																	140165879		2203	4300	6503	SO:0001583	missense	0							g.chr5:140165879G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.4G>A	5.37:g.140165879G>A	ENSP00000420840:p.Val2Met					PCDHA1_ENST00000394633.3_Missense_Mutation_p.V2M|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V2M	p.V2M	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	4	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.4G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	9.185	1.024521	0.19433	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.55413	0.63;0.52;0.64	4.31	1.23	0.21249	.	0.785517	0.10278	U	0.693958	T	0.31327	0.0793	N	0.17631	0.505	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.09377	0.001;0.002;0.004	T	0.18366	-1.0339	10	0.31617	T	0.26	.	2.8195	0.05467	0.14:0.533:0.1479:0.1792	.	2;2;2	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	M	2	ENSP00000420840:V2M;ENSP00000378129:V2M;ENSP00000367373:V2M	ENSP00000367373:V2M	V	+	1	0	PCDHA1	140146063	0.000000	0.05858	0.999000	0.59377	0.276000	0.26787	-0.411000	0.07142	0.392000	0.25172	-1.075000	0.02238	GTG		0.483	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		48	87	0	0	0	1	0	48	87				
UBXN1	51035	broad.mit.edu	37	11	62445254	62445254	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62445254T>A	ENST00000301935.5	-	6	699	c.533A>T	c.(532-534)aAg>aTg	p.K178M	UBXN1_ENST00000533000.1_Splice_Site_p.K36M|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Splice_Site_p.K174M|UBXN1_ENST00000294119.2_Splice_Site_p.K178M			Q04323	UBXN1_HUMAN	UBX domain protein 1	178	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GTCACCTACCTTCTTGGCTCT	0.433																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.e6+1		UBX domain protein 1							213.0	161.0	178.0					11																	62445254		2202	4299	6501	SO:0001630	splice_region_variant	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445254T>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.534+1A>T	11.37:g.62445254T>A						UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Splice_Site_p.K178_splice|UBXN1_ENST00000533000.1_Splice_Site_p.K36_splice|UBXN1_ENST00000529640.1_Splice_Site_p.K174_splice	p.K178_splice	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			6	664	-			178			Interaction with BRCA1.		Q9BV93|Q9BVV5	Splice_Site	SNP	ENST00000301935.5	37	c.534_splice		.	.	.	.	.	.	.	.	.	.	T	18.48	3.632956	0.67015	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000533000;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.30981	1.51;1.56;1.57;1.59	4.79	3.66	0.41972	.	0.181217	0.64402	D	0.000015	T	0.43299	0.1241	L	0.55743	1.74	0.51233	D	0.999912	P;D;D;D	0.76494	0.938;0.998;0.999;0.999	B;P;D;D	0.66602	0.371;0.888;0.945;0.939	T	0.35968	-0.9767	10	0.87932	D	0	-25.0798	6.284	0.21023	0.0:0.1879:0.0:0.8121	.	178;174;178;178	B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;UBXN1_HUMAN;.	M	178;178;36;81;174;178	ENSP00000294119:K178M;ENSP00000303991:K178M;ENSP00000435964:K174M;ENSP00000435625:K178M	ENSP00000294119:K178M	K	-	2	0	UBXN1	62201830	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.644000	0.67902	1.151000	0.42436	0.533000	0.62120	AAG		0.433	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853	Missense_Mutation	46	75	0	0	0	1	0	46	75				
KIAA0430	9665	broad.mit.edu	37	16	15706483	15706483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15706483C>A	ENST00000396368.3	-	17	3611	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q970H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q737H|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1135H|CTB-193M12.1_ENST00000549756.1_RNA	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1135	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACACTCGGCACTGCTTTGCAA	0.443																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(3403-3405)caG>caT		KIAA0430							193.0	193.0	193.0					16																	15706483		2030	4208	6238	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15706483C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3405G>T	16.37:g.15706483C>A	ENSP00000379654:p.Gln1135His					KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1135H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q737H|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q970H	p.Q1135H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			17	3611	-			1134					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.3405G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939155	0.73557	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.45	-3.35	0.04928	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.75615	2.305	0.53688	D	0.999975	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.999;0.998	T	0.62632	-0.6813	10	0.72032	D	0.01	.	12.9728	0.58522	0.0:0.4244:0.0:0.5756	.	1134;1132;1131;1134	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	H	1135;970;1075;737;1132;1135;915	ENSP00000379654:Q1135H;ENSP00000439819:Q970H;ENSP00000341939:Q737H;ENSP00000449376:Q1132H;ENSP00000450309:Q1135H	ENSP00000315718:Q1075H	Q	-	3	2	KIAA0430	15613984	0.885000	0.30320	0.983000	0.44433	0.976000	0.68499	0.007000	0.13174	-0.468000	0.06922	0.544000	0.68410	CAG		0.443	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	182	1	0	0.00621372	1	0.00652201	8	182				
MR1	3140	broad.mit.edu	37	1	181018422	181018422	+	Missense_Mutation	SNP	G	G	A	rs145064363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181018422G>A	ENST00000367580.5	+	2	307	c.302G>A	c.(301-303)cGc>cAc	p.R101H	MR1_ENST00000434571.2_Missense_Mutation_p.R101H|MR1_ENST00000282990.6_Missense_Mutation_p.R101H|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.R101H	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	101	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAACTGAAGCGCCTACAGAGG	0.617																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(301-303)cGc>cAc		major histocompatibility complex, class I-related		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	41.0	40.0	40.0		302,302,302,302	-1.5	0.0	1	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	MR1	NM_001194999.1,NM_001195000.1,NM_001195035.1,NM_001531.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	101/297,101/250,101/215,101/342	181018422	1,13005	2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181018422G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.302G>A	1.37:g.181018422G>A	ENSP00000356552:p.Arg101His					MR1_ENST00000434571.2_Missense_Mutation_p.R101H|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.R101H|MR1_ENST00000282990.6_Missense_Mutation_p.R101H	p.R101H	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			2	307	+			101			Alpha-1.|Ligand-binding.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.302G>A	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425035	0.25639	0.0	1.16E-4	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.00724	5.78;5.78;5.78;5.78	4.09	-1.46	0.08800	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.954020	0.02092	N	0.053217	T	0.00524	0.0017	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.14805	0.003;0.011;0.006;0.007;0.006	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.002;0.001	T	0.46331	-0.9199	10	0.48119	T	0.1	.	3.9075	0.09188	0.388:0.3819:0.2301:0.0	.	101;101;101;101;101	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	H	101	ENSP00000388504:R101H;ENSP00000356552:R101H;ENSP00000282990:R101H;ENSP00000356551:R101H	ENSP00000282990:R101H	R	+	2	0	MR1	179285045	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.043000	0.12043	-0.036000	0.13669	-0.361000	0.07541	CGC		0.617	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		12	13	0	0	0	1	0	12	13				
KCMF1	56888	broad.mit.edu	37	2	85262220	85262220	+	Missense_Mutation	SNP	C	C	T	rs202079409		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85262220C>T	ENST00000409785.4	+	3	625	c.266C>T	c.(265-267)aCg>aTg	p.T89M		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	89							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						ATGGGCTATACGGAGACATCT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19104	0.0		0.001	False		,,,				2504	0.0					ENST00000409785.3																			0				ovary(3)	3						c.(265-267)aCg>aTg		potassium channel modulatory factor 1		C	MET/THR	0,3724		0,0,1862	89.0	79.0	82.0		266	6.0	1.0	2		82	1,8209		0,1,4104	no	missense	KCMF1	NM_020122.4	81	0,1,5966	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	89/382	85262220	1,11933	1862	4105	5967	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85262220C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.266C>T	2.37:g.85262220C>T	ENSP00000386738:p.Thr89Met						p.T89M	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			3	625	+			89					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.266C>T	CCDS46350.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	33	5.221336	0.95139	0.0	1.22E-4	ENSG00000176407	ENST00000409785;ENST00000428691;ENST00000453448	T	0.51817	0.69	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Drought induced 19/ RING finger protein 114 (1);Zinc finger, C2H2 (1);	0.095752	0.64402	D	0.000001	T	0.69287	0.3094	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70483	-0.4859	10	0.87932	D	0	-6.2255	17.9189	0.88960	0.0:1.0:0.0:0.0	.	89	Q9P0J7	KCMF1_HUMAN	M	89;38;38	ENSP00000386738:T89M	ENSP00000386738:T89M	T	+	2	0	KCMF1	85115731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.829000	0.97493	0.650000	0.86243	ACG		0.378	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		10	22	0	0	0	1	0	10	22				
RIOK2	55781	broad.mit.edu	37	5	96504510	96504510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96504510G>A	ENST00000283109.3	-	7	894	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R276C	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	276	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGCTGAAACGTTTCATAAAG	0.323																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(826-828)Cgt>Tgt		RIO kinase 2							87.0	98.0	94.0					5																	96504510		2203	4297	6500	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96504510G>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.826C>T	5.37:g.96504510G>A	ENSP00000283109:p.Arg276Cys					RIOK2_ENST00000508447.1_Missense_Mutation_p.R276C|CTD-2215E18.1_ENST00000509481.1_Intron	p.R276C	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	7	894	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	276			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.826C>T	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127086	0.77549	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.07567	3.18;3.18	5.81	4.93	0.64822	RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.52616	-0.8552	10	0.87932	D	0	-22.5067	14.9641	0.71176	0.0702:0.0:0.9298:0.0	.	276;276	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	C	276	ENSP00000283109:R276C;ENSP00000420932:R276C	ENSP00000283109:R276C	R	-	1	0	RIOK2	96530266	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.993000	0.63895	2.747000	0.94245	0.650000	0.86243	CGT		0.323	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		6	79	0	0	0	1	0	6	79				
SMAP1	60682	broad.mit.edu	37	6	71562252	71562252	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71562252C>A	ENST00000370455.3	+	8	922	c.674C>A	c.(673-675)gCt>gAt	p.A225D	SMAP1_ENST00000370452.3_Missense_Mutation_p.A198D|SMAP1_ENST00000316999.5_Missense_Mutation_p.A198D	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	225					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GATGGCCCTGCTGTGGCACCA	0.398																																						ENST00000370455.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(673-675)gCt>gAt		small ArfGAP 1							108.0	96.0	100.0					6																	71562252		2203	4300	6503	SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71562252C>A	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.674C>A	6.37:g.71562252C>A	ENSP00000359484:p.Ala225Asp					SMAP1_ENST00000316999.5_Missense_Mutation_p.A198D|SMAP1_ENST00000370452.3_Missense_Mutation_p.A198D	p.A225D	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			8	922	+			225					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	c.674C>A	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314646	0.60524	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455	T;T;T	0.27256	2.06;2.1;1.68	5.69	4.83	0.62350	.	0.707775	0.13791	N	0.362526	T	0.21387	0.0515	L	0.53249	1.67	0.80722	D	1	P;P;P;D	0.56746	0.951;0.634;0.493;0.977	P;B;B;P	0.47744	0.47;0.232;0.232;0.556	T	0.02736	-1.1117	10	0.72032	D	0.01	-26.6823	12.9511	0.58401	0.0:0.9249:0.0:0.0751	.	225;198;198;225	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	D	198;198;225	ENSP00000359481:A198D;ENSP00000313382:A198D;ENSP00000359484:A225D	ENSP00000313382:A198D	A	+	2	0	SMAP1	71618973	1.000000	0.71417	0.766000	0.31476	0.383000	0.30230	3.899000	0.56288	1.415000	0.47037	0.313000	0.20887	GCT		0.398	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		7	96	1	0	2.0095e-06	1	2.31757e-06	7	96				
SCN10A	6336	broad.mit.edu	37	3	38739556	38739556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739556C>T	ENST00000449082.2	-	27	5154	c.5155G>A	c.(5155-5157)Gca>Aca	p.A1719T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1719					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGAATCACTGCAATGTACATG	0.512																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(5155-5157)Gca>Aca		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						125.0	118.0	120.0					3																	38739556		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739556C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5155G>A	3.37:g.38739556C>T	ENSP00000390600:p.Ala1719Thr						p.A1719T	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5154	-			1719					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5155G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413045	0.83449	.	.	ENSG00000185313	ENST00000449082	D	0.99239	-5.61	5.38	4.48	0.54585	Ion transport (1);	0.057810	0.64402	D	0.000002	D	0.99638	0.9867	H	0.97214	3.96	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	D	0.97467	1.0038	10	0.87932	D	0	.	15.4459	0.75228	0.1397:0.8603:0.0:0.0	.	1719	Q9Y5Y9	SCNAA_HUMAN	T	1719	ENSP00000390600:A1719T	ENSP00000390600:A1719T	A	-	1	0	SCN10A	38714560	1.000000	0.71417	0.669000	0.29828	0.997000	0.91878	7.651000	0.83577	1.454000	0.47793	0.655000	0.94253	GCA		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		23	49	0	0	0	1	0	23	49				
TAS2R1	50834	broad.mit.edu	37	5	9629871	9629871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9629871C>T	ENST00000382492.2	-	1	592	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	92					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCCAAAGTTCCAATTCATTT	0.413																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(274-276)Gaa>Aaa		taste receptor, type 2, member 1							28.0	31.0	30.0					5																	9629871		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629871C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.274G>A	5.37:g.9629871C>T	ENSP00000371932:p.Glu92Lys					CTD-2001E22.1_ENST00000504182.2_RNA	p.E92K	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	592	-			92					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.274G>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573940	0.45902	.	.	ENSG00000169777	ENST00000382492	T	0.40225	1.04	5.32	0.0872	0.14449	.	0.820960	0.10688	N	0.645540	T	0.32526	0.0832	L	0.57536	1.79	0.09310	N	1	B	0.26809	0.16	B	0.24006	0.05	T	0.25606	-1.0127	9	.	.	.	.	3.6438	0.08177	0.178:0.3455:0.0:0.4766	.	92	Q9NYW7	TA2R1_HUMAN	K	92	ENSP00000371932:E92K	.	E	-	1	0	TAS2R1	9682871	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	0.803000	0.27083	0.087000	0.17167	0.655000	0.94253	GAA		0.413	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			9	17	0	0	0	1	0	9	17				
LGI3	203190	broad.mit.edu	37	8	22011708	22011708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22011708G>A	ENST00000306317.2	-	4	658	c.369C>T	c.(367-369)gaC>gaT	p.D123D	LGI3_ENST00000424267.2_Intron	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	123					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTGCCCAGATGTCATTGTTCT	0.557																																						ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(367-369)gaC>gaT		leucine-rich repeat LGI family, member 3							185.0	149.0	161.0					8																	22011708		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22011708G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.369C>T	8.37:g.22011708G>A						LGI3_ENST00000424267.2_Intron	p.D123D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	4	658	-			123					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.369C>T	CCDS6025.1																																																																																				0.557	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			20	41	0	0	0	1	0	20	41				
CACNA2D1	781	broad.mit.edu	37	7	81588629	81588629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81588629G>A	ENST00000356253.5	-	38	3412	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*	CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.R253*|CACNA2D1_ENST00000356860.3_Nonsense_Mutation_p.R1041*			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1053					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGCCCTTTTCGGTATCTGGGT	0.358																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3121-3123)Cga>Tga		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						114.0	103.0	107.0					7																	81588629		2203	4300	6503	SO:0001587	stop_gained	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81588629G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3157C>T	7.37:g.81588629G>A	ENSP00000348589:p.Arg1053*					CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.R253*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.R1053*	p.R1041*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			38	3459	-			1053					Q17R45|Q9UD80|Q9UD81|Q9UD82	Nonsense_Mutation	SNP	ENST00000356253.5	37	c.3121C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.290968	0.99377	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	.	.	.	5.84	2.73	0.32206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.478	13.6713	0.62427	0.0:0.0:0.496:0.504	.	.	.	.	X	1041;1060;1053;253	.	ENSP00000284088:R1060X	R	-	1	2	CACNA2D1	81426565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.898000	0.39809	1.427000	0.47276	0.563000	0.77884	CGA		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				54	45	0	0	0	1	0	54	45				
NARS2	79731	broad.mit.edu	37	11	78277319	78277319	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78277319C>A	ENST00000281038.5	-	4	748		c.e4-1		NARS2_ENST00000528850.1_Splice_Site	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGGGGAAATCCTGCCAATAAA	0.363																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.e4-1		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						47.0	47.0	47.0					11																	78277319		2200	4291	6491	SO:0001630	splice_region_variant	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78277319C>A	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.373-1G>T	11.37:g.78277319C>A						NARS2_ENST00000528850.1_Splice_Site		NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			4	748	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)							G3V178	Splice_Site	SNP	ENST00000281038.5	37		CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474457	0.63737	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7175	0.88342	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NARS2	77954967	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	6.850000	0.75420	2.547000	0.85894	0.655000	0.94253	.		0.363	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	Intron	28	32	1	0	4.59853e-10	1	5.63411e-10	28	32				
PPP1R2P1	100507444	broad.mit.edu	37	6	32847441	32847441	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32847441C>T	ENST00000420261.1	-	0	184							Q96PQ5	IPP2L_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1						glycogen metabolic process (GO:0005977)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein phosphatase inhibitor activity (GO:0004864)										GTCTGCTGGACGATATGTCGC	0.468																																						ENST00000420261.1																			0																																																			0							g.chr6:32847441C>T	AF275684		6p21.32	2013-06-10		2001-08-31	ENSG00000234515	ENSG00000234515			9289	pseudogene	pseudogene				PPP1R2P		11696978, 7949733	Standard	NG_027882		Approved	IPP-2P		Q96PQ5	OTTHUMG00000031273		6.37:g.32847441C>T														0	184	-									RNA	SNP	ENST00000420261.1	37																																																																																						0.468	PPP1R2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000276488.1	NG_027882		11	15	0	0	0	1	0	11	15				
ALG10B	144245	broad.mit.edu	37	12	38714922	38714922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38714922C>A	ENST00000308742.4	+	3	1645	c.1329C>A	c.(1327-1329)tgC>tgA	p.C443*	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	443					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTGAGTTGCTATGCAATTG	0.348																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1327-1329)tgC>tgA		ALG10B, alpha-1,2-glucosyltransferase							186.0	182.0	183.0					12																	38714922		2203	4298	6501	SO:0001587	stop_gained	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714922C>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1329C>A	12.37:g.38714922C>A	ENSP00000310120:p.Cys443*					ALG10B_ENST00000551464.1_Intron	p.C443*	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1645	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	443					B2RPF4	Nonsense_Mutation	SNP	ENST00000308742.4	37	c.1329C>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.216820	0.79352	.	.	ENSG00000175548	ENST00000308742	.	.	.	3.49	1.65	0.23941	.	0.284206	0.41500	D	0.000872	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	3.0961	0.06309	0.2113:0.5576:0.0:0.2311	.	.	.	.	X	443	.	ENSP00000310120:C443X	C	+	3	2	ALG10B	37001189	0.995000	0.38212	0.937000	0.37676	0.057000	0.15508	0.212000	0.17497	0.474000	0.27392	0.655000	0.94253	TGC		0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		74	119	1	0	1.08321e-29	1	1.45005e-29	74	119				
RNF19A	25897	broad.mit.edu	37	8	101299988	101299988	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101299988G>C	ENST00000519449.1	-	3	731	c.415C>G	c.(415-417)Cat>Gat	p.H139D	RNF19A_ENST00000341084.2_Missense_Mutation_p.H139D	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	139					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTTTAGAATGCCGCAAAAGG	0.378																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(415-417)Cat>Gat		ring finger protein 19A, RBR E3 ubiquitin protein ligase							107.0	108.0	108.0					8																	101299988		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299988G>C	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.415C>G	8.37:g.101299988G>C	ENSP00000428968:p.His139Asp					RNF19A_ENST00000341084.2_Missense_Mutation_p.H139D	p.H139D	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	731	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		139					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.415C>G	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856783	0.51376	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.83163	-1.69;-1.69	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.048723	0.85682	D	0.000000	T	0.70474	0.3228	N	0.24115	0.695	0.58432	D	0.999991	P	0.40970	0.734	B	0.35182	0.197	T	0.71731	-0.4504	10	0.35671	T	0.21	.	12.514	0.56021	0.0767:0.0:0.9233:0.0	.	139	Q9NV58	RN19A_HUMAN	D	139	ENSP00000428968:H139D;ENSP00000342667:H139D	ENSP00000342667:H139D	H	-	1	0	RNF19A	101369164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.828000	0.75308	2.606000	0.88127	0.650000	0.86243	CAT		0.378	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		35	99	0	0	0	1	0	35	99				
ZNF474	133923	broad.mit.edu	37	5	121487888	121487888	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:121487888T>C	ENST00000296600.4	+	2	586	c.203T>C	c.(202-204)cTa>cCa	p.L68P	CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	68							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ACTGTGATACTATCAAAACTG	0.468																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(202-204)cTa>cCa		zinc finger protein 474							91.0	103.0	99.0					5																	121487888		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121487888T>C	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.203T>C	5.37:g.121487888T>C	ENSP00000296600:p.Leu68Pro					ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	p.L68P	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	586	+		all_cancers(142;0.229)|Prostate(80;0.0387)	68					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.203T>C	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	T	7.899	0.734034	0.15574	.	.	ENSG00000164185	ENST00000296600	T	0.56611	0.45	5.58	5.58	0.84498	.	0.185981	0.23714	U	0.045299	T	0.41604	0.1166	L	0.34521	1.04	0.23036	N	0.998392	P	0.35844	0.524	B	0.28849	0.095	T	0.43196	-0.9406	10	0.51188	T	0.08	-9.0154	15.4325	0.75112	0.0:0.0:0.0:1.0	.	68	Q6S9Z5	ZN474_HUMAN	P	68	ENSP00000296600:L68P	ENSP00000296600:L68P	L	+	2	0	ZNF474	121515787	0.713000	0.27926	0.049000	0.19019	0.012000	0.07955	5.813000	0.69201	2.121000	0.65114	0.533000	0.62120	CTA		0.468	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		16	162	0	0	0	1	0	16	162				
PCDHGA6	56109	broad.mit.edu	37	5	140753844	140753844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140753844G>A	ENST00000517434.1	+	1	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGAGTCCGCATCGTCTCC	0.592																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(193-195)cGc>cAc									51.0	58.0	56.0					5																	140753844		2201	4300	6501	SO:0001583	missense	0							g.chr5:140753844G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.194G>A	5.37:g.140753844G>A	ENSP00000429601:p.Arg65His					PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.R65H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	194	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.194G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	11.06	1.528859	0.27387	.	.	ENSG00000253731	ENST00000517434	T	0.38240	1.15	5.19	4.32	0.51571	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.31834	U	0.006991	T	0.60495	0.2273	M	0.93150	3.385	0.09310	N	1	P;D	0.60160	0.923;0.987	B;P	0.54401	0.427;0.751	T	0.60994	-0.7152	10	0.48119	T	0.1	.	13.2556	0.60076	0.1261:0.0:0.8739:0.0	.	65;65	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	H	65	ENSP00000429601:R65H	ENSP00000429601:R65H	R	+	2	0	PCDHGA6	140734028	0.784000	0.28713	0.098000	0.21074	0.030000	0.12068	3.688000	0.54699	2.866000	0.98385	0.650000	0.86243	CGC		0.592	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		4	58	0	0	0	1	0	4	58				
LGALS8	3964	broad.mit.edu	37	1	236702296	236702296	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702296A>G	ENST00000366584.4	+	4	818	c.252A>G	c.(250-252)gaA>gaG	p.E84E	LGALS8_ENST00000525042.1_Silent_p.E84E|LGALS8_ENST00000352231.2_Silent_p.E84E|LGALS8_ENST00000323938.6_Silent_p.E57E|LGALS8_ENST00000416919.2_Silent_p.E84E|LGALS8_ENST00000526589.1_Silent_p.E84E|LGALS8_ENST00000450372.2_Silent_p.E84E|LGALS8_ENST00000341872.6_Silent_p.E84E|LGALS8_ENST00000527974.1_Silent_p.E84E|LGALS8_ENST00000526634.1_Silent_p.E84E|RP11-385F5.5_ENST00000608547.1_RNA|RP11-385F5.4_ENST00000433131.1_RNA	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	84	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGATAAATGAAAAATGGGGAC	0.438																																						ENST00000526589.1																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(250-252)gaA>gaG		lectin, galactoside-binding, soluble, 8							96.0	93.0	94.0					1																	236702296		2203	4300	6503	SO:0001819	synonymous_variant	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236702296A>G	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.252A>G	1.37:g.236702296A>G						LGALS8_ENST00000416919.2_Silent_p.E84E|LGALS8_ENST00000323938.6_Silent_p.E57E|LGALS8_ENST00000526634.1_Silent_p.E84E|LGALS8_ENST00000527974.1_Silent_p.E84E|LGALS8_ENST00000341872.6_Silent_p.E84E|LGALS8_ENST00000525042.1_Silent_p.E84E|LGALS8_ENST00000450372.2_Silent_p.E84E|LGALS8_ENST00000366584.4_Silent_p.E84E|LGALS8_ENST00000352231.2_Silent_p.E84E	p.E84E			O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		7	772	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	84			Galectin 1.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	ENST00000366584.4	37	c.252A>G	CCDS1612.1																																																																																				0.438	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		44	36	0	0	0	1	0	44	36				
SPEF2	79925	broad.mit.edu	37	5	35641674	35641674	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35641674C>T	ENST00000356031.3	+	3	457	c.303C>T	c.(301-303)taC>taT	p.Y101Y	SPEF2_ENST00000440995.2_Silent_p.Y101Y|SPEF2_ENST00000509059.1_Silent_p.Y101Y|SPEF2_ENST00000282469.6_Silent_p.Y101Y	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	101	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAATTGTACATTGCTCTTC	0.413																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(301-303)taC>taT		sperm flagellar 2							92.0	91.0	91.0					5																	35641674		2203	4300	6503	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35641674C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.303C>T	5.37:g.35641674C>T						SPEF2_ENST00000509059.1_Silent_p.Y101Y|SPEF2_ENST00000356031.3_Silent_p.Y101Y|SPEF2_ENST00000282469.6_Silent_p.Y101Y	p.Y101Y			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	303	+	all_lung(31;7.56e-05)		101			CH.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.303C>T	CCDS43309.1																																																																																				0.413	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		33	42	0	0	0	1	0	33	42				
TAF6	6878	broad.mit.edu	37	7	99710503	99710503	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99710503G>A	ENST00000344095.4	-	6	1017	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TAF6_ENST00000452041.1_Silent_p.P164P|TAF6_ENST00000497233.1_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_Silent_p.P88P|TAF6_ENST00000472509.1_Silent_p.P221P|TAF6_ENST00000453269.2_Silent_p.P164P|TAF6_ENST00000437822.2_Silent_p.P201P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	164					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGACTTCAGGGGTTCTGTGG	0.582																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(490-492)ccC>ccT		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							178.0	180.0	179.0					7																	99710503		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99710503G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.492C>T	7.37:g.99710503G>A						TAF6_ENST00000472509.1_Silent_p.P221P|TAF6_ENST00000418432.2_Silent_p.P88P|TAF6_ENST00000452041.1_Silent_p.P164P|TAF6_ENST00000437822.2_Silent_p.P201P|TAF6_ENST00000453269.2_Silent_p.P164P	p.P164P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			6	1017	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		164					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.492C>T	CCDS5686.1																																																																																				0.582	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		29	320	0	0	0	1	0	29	320				
TSPEAR	54084	broad.mit.edu	37	21	45941952	45941952	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45941952C>T	ENST00000323084.4	-	9	1445	c.1380G>A	c.(1378-1380)ccG>ccA	p.P460P	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Silent_p.P392P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	460					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCCGGGTTGCCGGGTTCCACT	0.622																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1378-1380)ccG>ccA		thrombospondin-type laminin G domain and EAR repeats							237.0	241.0	240.0					21																	45941952		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45941952C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1380G>A	21.37:g.45941952C>T						C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Silent_p.P392P	p.P460P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			9	1445	-			460						Silent	SNP	ENST00000323084.4	37	c.1380G>A	CCDS13712.1																																																																																				0.622	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		58	102	0	0	0	1	0	58	102				
MDP1	145553	broad.mit.edu	37	14	24683347	24683347	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24683347G>A	ENST00000288087.7	-	6	525	c.414C>T	c.(412-414)tgC>tgT	p.C138C	CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Silent_p.C155C|NEDD8-MDP1_ENST00000604306.1_5'Flank|MDP1_ENST00000396833.2_Missense_Mutation_p.H92Y|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	138						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						GGATGTGAATGCAGGTAACAC	0.433																																						ENST00000396833.2																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(274-276)Cat>Tat		magnesium-dependent phosphatase 1							88.0	89.0	89.0					14																	24683347		2203	4300	6503	SO:0001819	synonymous_variant	145553							g.chr14:24683347G>A	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.414C>T	14.37:g.24683347G>A						NEDD8-MDP1_ENST00000534348.1_Silent_p.C155C|MDP1_ENST00000532557.1_5'UTR|MDP1_ENST00000288087.7_Silent_p.C138C|AL136419.6_ENST00000565988.1_RNA	p.H92Y	NM_001199821.1	NP_001186750.1					5	383	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.274C>T	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665876	0.47677	.	.	ENSG00000213920	ENST00000396833	.	.	.	5.25	2.13	0.27403	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.23113	N	0.998271	B	0.10296	0.003	B	0.09377	0.004	T	0.16897	-1.0387	7	0.32370	T	0.25	-5.6988	5.5107	0.16878	0.384:0.0:0.616:0.0	.	92	Q86V88-3	.	Y	92	.	ENSP00000380045:H92Y	H	-	1	0	MDP1	23753187	0.993000	0.37304	0.998000	0.56505	0.991000	0.79684	0.294000	0.19047	0.716000	0.32124	0.655000	0.94253	CAT		0.433	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		12	102	0	0	0	1	0	12	102				
VPS33B	26276	broad.mit.edu	37	15	91551163	91551163	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91551163C>T	ENST00000333371.3	-	7	788	c.435G>A	c.(433-435)ttG>ttA	p.L145L	VPS33B_ENST00000535906.1_Silent_p.L118L|VPS33B_ENST00000535843.1_Silent_p.L54L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	145					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAAGAGGCAGCAAAGAGAAGG	0.512																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(433-435)ttG>ttA		vacuolar protein sorting 33 homolog B (yeast)							134.0	124.0	127.0					15																	91551163		2198	4298	6496	SO:0001819	synonymous_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91551163C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.435G>A	15.37:g.91551163C>T						VPS33B_ENST00000535906.1_Silent_p.L118L|VPS33B_ENST00000535843.1_Silent_p.L54L	p.L145L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			7	788	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		145					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	ENST00000333371.3	37	c.435G>A	CCDS10369.1																																																																																				0.512	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		37	53	0	0	0	1	0	37	53				
TET1	80312	broad.mit.edu	37	10	70333561	70333561	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70333561C>A	ENST00000373644.4	+	2	1675	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	489					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTCATTACCTCCAGTAATG	0.448																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(1465-1467)cCt>cAt		tet methylcytosine dioxygenase 1							48.0	45.0	46.0					10																	70333561		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70333561C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1466C>A	10.37:g.70333561C>A	ENSP00000362748:p.Pro489His						p.P489H	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	1675	+			489					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.1466C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960258	0.53400	.	.	ENSG00000138336	ENST00000373644	T	0.09073	3.02	4.78	4.78	0.61160	.	0.775507	0.11354	N	0.572601	T	0.18718	0.0449	L	0.27053	0.805	0.33937	D	0.642777	D	0.89917	1.0	D	0.68765	0.96	T	0.15752	-1.0426	10	0.72032	D	0.01	.	15.1198	0.72434	0.0:1.0:0.0:0.0	.	489	Q8NFU7	TET1_HUMAN	H	489	ENSP00000362748:P489H	ENSP00000362748:P489H	P	+	2	0	TET1	70003567	0.012000	0.17670	1.000000	0.80357	0.759000	0.43091	0.215000	0.17562	2.481000	0.83766	0.305000	0.20034	CCT		0.448	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		6	46	1	0	5.18039e-06	1	5.91835e-06	6	46				
C1orf158	93190	broad.mit.edu	37	1	12806454	12806454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12806454G>A	ENST00000288048.5	+	1	292	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.V26M	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	26										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAACGAAAGTGCTCACTGG	0.488																																						ENST00000288048.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10						c.(76-78)Gtg>Atg		chromosome 1 open reading frame 158							101.0	99.0	100.0					1																	12806454		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12806454G>A	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.76G>A	1.37:g.12806454G>A	ENSP00000288048:p.Val26Met					C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.V26M	p.V26M	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	1	292	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	26					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.76G>A	CCDS147.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458063	0.63401	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.58210	0.35;0.58	6.17	5.26	0.73747	.	0.068984	0.56097	D	0.000027	T	0.71160	0.3307	M	0.78801	2.425	0.49798	D	0.999824	D;D	0.89917	1.0;0.998	D;D	0.75484	0.986;0.966	T	0.75016	-0.3466	10	0.87932	D	0	-16.0658	11.4033	0.49883	0.0823:0.0:0.9177:0.0	.	26;26	B4DQE0;Q8N1D5	.;CA158_HUMAN	M	26	ENSP00000288048:V26M;ENSP00000365383:V26M	ENSP00000288048:V26M	V	+	1	0	C1orf158	12729041	0.999000	0.42202	0.958000	0.39756	0.587000	0.36485	4.382000	0.59594	1.616000	0.50265	0.655000	0.94253	GTG		0.488	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		14	32	0	0	0	1	0	14	32				
KIAA1324	57535	broad.mit.edu	37	1	109707210	109707210	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707210A>G	ENST00000369939.3	+	3	547	c.364A>G	c.(364-366)Att>Gtt	p.I122V	KIAA1324_ENST00000529753.1_Missense_Mutation_p.I122V	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	122					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGGCACAGGCATTCGGTTTGA	0.577																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(364-366)Att>Gtt		KIAA1324							115.0	104.0	108.0					1																	109707210		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109707210A>G	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.364A>G	1.37:g.109707210A>G	ENSP00000358955:p.Ile122Val					KIAA1324_ENST00000529753.1_Missense_Mutation_p.I122V	p.I122V	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	3	547	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	122					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.364A>G	CCDS794.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035466	0.54896	.	.	ENSG00000116299	ENST00000531664;ENST00000534476;ENST00000526264;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	6.04	6.04	0.98038	.	0.114985	0.64402	D	0.000018	T	0.08313	0.0207	N	0.12637	0.245	0.23848	N	0.996676	B;B;B;B	0.29162	0.093;0.183;0.235;0.235	B;B;B;B	0.26614	0.037;0.071;0.046;0.046	T	0.14671	-1.0464	10	0.10377	T	0.69	-34.0253	8.7931	0.34863	0.86:0.0:0.14:0.0	.	122;122;122;122	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	V	122	ENSP00000431349:I122V;ENSP00000432164:I122V;ENSP00000435066:I122V;ENSP00000358955:I122V;ENSP00000393964:I122V;ENSP00000434595:I122V	ENSP00000358955:I122V	I	+	1	0	KIAA1324	109508733	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.212000	0.51145	2.317000	0.78254	0.459000	0.35465	ATT		0.577	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		21	77	0	0	0	1	0	21	77				
STEAP1B	256227	broad.mit.edu	37	7	22532333	22532333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22532333C>T	ENST00000406890.2	-	4	650	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	STEAP1B_ENST00000404369.4_Missense_Mutation_p.E205K	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	186						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						CAGGCATCTTCTTTATTTTGT	0.403																																						ENST00000404369.4																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(613-615)Gaa>Aaa		STEAP family member 1B							123.0	110.0	114.0					7																	22532333		692	1590	2282	SO:0001583	missense	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22532333C>T		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.556G>A	7.37:g.22532333C>T	ENSP00000385239:p.Glu186Lys					STEAP1B_ENST00000406890.2_Missense_Mutation_p.E186K	p.E205K	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN			4	1028	-			186					B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	c.613G>A	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.758620	0.69763	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	T;T;T;T	0.12879	2.67;2.82;2.85;2.64	1.23	1.23	0.21249	Flavoprotein transmembrane component (1);	0.000000	0.38272	U	0.001743	T	0.29288	0.0729	M	0.68593	2.085	0.28271	N	0.92439	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.01781	-1.1275	10	0.52906	T	0.07	-15.5723	8.5117	0.33222	0.0:1.0:0.0:0.0	.	205;186	B5MCI2;Q6NZ63	.;STEAL_HUMAN	K	186;205;205;205	ENSP00000385239:E186K;ENSP00000384370:E205K;ENSP00000416608:E205K;ENSP00000408954:E205K	ENSP00000384370:E205K	E	-	1	0	STEAP1B	22498858	1.000000	0.71417	0.927000	0.36925	0.395000	0.30598	4.038000	0.57318	1.022000	0.39626	0.121000	0.15741	GAA		0.403	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			27	77	0	0	0	1	0	27	77				
LHX8	431707	broad.mit.edu	37	1	75622580	75622580	+	Silent	SNP	G	G	A	rs79714503	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75622580G>A	ENST00000294638.5	+	9	1477	c.813G>A	c.(811-813)gtG>gtA	p.V271V	LHX8_ENST00000356261.3_Silent_p.V261V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	271					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGCTCAGGTGTGGTTTCAGA	0.483																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(811-813)gtG>gtA		LIM homeobox 8							214.0	205.0	208.0					1																	75622580		2203	4300	6503	SO:0001819	synonymous_variant	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622580G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.813G>A	1.37:g.75622580G>A						LHX8_ENST00000356261.3_Silent_p.V261V	p.V271V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1477	+			271					E9PGE3	Silent	SNP	ENST00000294638.5	37	c.813G>A	CCDS30756.1																																																																																				0.483	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		27	54	0	0	0	1	0	27	54				
CPZ	8532	broad.mit.edu	37	4	8608505	8608505	+	Silent	SNP	G	G	A	rs370892504		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8608505G>A	ENST00000360986.4	+	6	1122	c.948G>A	c.(946-948)gcG>gcA	p.A316A	CPZ_ENST00000315782.6_Silent_p.A305A|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Silent_p.A179A	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	316					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAGAACGCGCAGAACCTGG	0.662																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(535-537)gcG>gcA		carboxypeptidase Z			,,	0,4406		0,0,2203	69.0	68.0	68.0		948,537,915	-3.2	1.0	4		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	316/653,179/516,305/642	8608505	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8608505G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.948G>A	4.37:g.8608505G>A						CPZ_ENST00000360986.4_Silent_p.A316A|CPZ_ENST00000315782.6_Silent_p.A305A|CPZ_ENST00000429646.2_5'UTR	p.A179A	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			6	1337	+			316					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.537G>A	CCDS33953.1																																																																																				0.662	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		25	37	0	0	0	1	0	25	37				
CAT	847	broad.mit.edu	37	11	34489941	34489941	+	Splice_Site	SNP	C	C	T	rs201903015		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34489941C>T	ENST00000241052.4	+	11	1522	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	478					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CAGAAGAAAGCGGTGAGTCTT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		15479	0.0		0.001	False		,,,				2504	0.0					ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.e11+1		catalase	Fomepizole(DB01213)						103.0	93.0	97.0					11																	34489941		2202	4298	6500	SO:0001630	splice_region_variant	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34489941C>T	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1434+1C>T	11.37:g.34489941C>T							p.A478_splice	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	11	1522	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	478					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Splice_Site	SNP	ENST00000241052.4	37	c.1434_splice	CCDS7891.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.03	2.711685	0.48517	.	.	ENSG00000121691	ENST00000241052	D	0.90732	-2.72	5.59	2.74	0.32292	Catalase domain (1);Catalase-related immune responsive (1);	0.148264	0.64402	N	0.000011	D	0.84875	0.5569	L	0.59436	1.845	0.50632	D	0.999887	B	0.30709	0.291	B	0.19391	0.025	T	0.76058	-0.3098	10	0.16896	T	0.51	-10.4877	9.8337	0.40956	0.0:0.781:0.0:0.219	.	478	P04040	CATA_HUMAN	V	478	ENSP00000241052:A478V	ENSP00000241052:A478V	A	+	2	0	CAT	34446517	1.000000	0.71417	0.943000	0.38184	0.847000	0.48162	4.458000	0.60095	0.324000	0.23333	0.555000	0.69702	GCG		0.468	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752	Missense_Mutation	37	49	0	0	0	1	0	37	49				
RNF40	9810	broad.mit.edu	37	16	30780680	30780680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30780680G>T	ENST00000324685.6	+	16	2856	c.2421G>T	c.(2419-2421)aaG>aaT	p.K807N	RNF40_ENST00000563683.1_Missense_Mutation_p.K767N|RNF40_ENST00000357890.5_Missense_Mutation_p.K707N|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000402121.3_Missense_Mutation_p.K499N	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	807					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGAGGAGAAGGATGAGTTGG	0.587																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(2419-2421)aaG>aaT		ring finger protein 40, E3 ubiquitin protein ligase							109.0	113.0	112.0					16																	30780680		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780680G>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2421G>T	16.37:g.30780680G>T	ENSP00000325677:p.Lys807Asn					RNF40_ENST00000563683.1_Missense_Mutation_p.K767N|RNF40_ENST00000357890.5_Missense_Mutation_p.K707N|RNF40_ENST00000402121.3_Missense_Mutation_p.K499N|RNF40_ENST00000567365.1_3'UTR	p.K807N	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		16	2856	+			807					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.2421G>T	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410485	0.62399	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.43294	0.95;0.98;1.02	6.07	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.80183	2.485	0.58432	D	0.999999	B;D;D;D;D	0.71674	0.407;0.975;0.998;0.983;0.97	B;P;D;P;P	0.67231	0.358;0.894;0.95;0.791;0.791	T	0.68273	-0.5452	10	0.87932	D	0	-44.6988	11.1795	0.48620	0.1474:0.0:0.8526:0.0	.	139;499;707;807;807	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	N	807;707;499;139	ENSP00000325677:K807N;ENSP00000350563:K707N;ENSP00000384942:K499N	ENSP00000325677:K807N	K	+	3	2	RNF40	30688181	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.578000	0.46051	1.582000	0.49881	-0.140000	0.14226	AAG		0.587	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		8	80	1	0	0.0381472	1	0.0390147	8	80				
LRRN1	57633	broad.mit.edu	37	3	3886579	3886579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3886579C>T	ENST00000319331.3	+	2	1015	c.254C>T	c.(253-255)gCa>gTa	p.A85V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	85						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATAACATCGCAAAGACTGTG	0.448																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(253-255)gCa>gTa		leucine rich repeat neuronal 1							85.0	79.0	81.0					3																	3886579		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886579C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.254C>T	3.37:g.3886579C>T	ENSP00000314901:p.Ala85Val					SUMF1_ENST00000534863.1_Intron	p.A85V	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1015	+			85					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.254C>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182216	0.57800	.	.	ENSG00000175928	ENST00000319331	T	0.22539	1.95	5.76	5.76	0.90799	.	0.165141	0.52532	D	0.000069	T	0.19525	0.0469	L	0.45581	1.43	0.50467	D	0.999879	P	0.35433	0.501	B	0.29785	0.107	T	0.01914	-1.1248	10	0.32370	T	0.25	.	15.4554	0.75308	0.0:0.862:0.138:0.0	.	85	Q6UXK5	LRRN1_HUMAN	V	85	ENSP00000314901:A85V	ENSP00000314901:A85V	A	+	2	0	LRRN1	3861579	1.000000	0.71417	0.577000	0.28562	0.934000	0.57294	5.946000	0.70234	2.713000	0.92767	0.655000	0.94253	GCA		0.448	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		8	43	0	0	0	1	0	8	43				
ANAPC5	51433	broad.mit.edu	37	12	121784789	121784789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121784789C>A	ENST00000261819.3	-	3	428	c.307G>T	c.(307-309)Ggc>Tgc	p.G103C	ANAPC5_ENST00000344395.4_Missense_Mutation_p.G4C|ANAPC5_ENST00000541887.1_Missense_Mutation_p.G103C|ANAPC5_ENST00000536366.1_5'Flank|ANAPC5_ENST00000441917.2_Missense_Mutation_p.G4C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCAACTCGCCTTCAGCCATC	0.368																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(307-309)Ggc>Tgc		anaphase promoting complex subunit 5							93.0	87.0	89.0					12																	121784789		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121784789C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.307G>T	12.37:g.121784789C>A	ENSP00000261819:p.Gly103Cys					ANAPC5_ENST00000541887.1_Missense_Mutation_p.G103C|ANAPC5_ENST00000441917.2_Missense_Mutation_p.G4C|ANAPC5_ENST00000344395.4_Missense_Mutation_p.G4C	p.G103C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			3	428	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		103					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.307G>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166703	0.78339	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000544442;ENST00000539871;ENST00000536837	.	.	.	5.46	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.956	T	0.79240	-0.1885	9	0.72032	D	0.01	.	13.9694	0.64230	0.0:0.9274:0.0:0.0726	.	4;103	E9PFB2;Q9UJX4	.;APC5_HUMAN	C	4;103;103;4;4;151;4	.	ENSP00000261819:G103C	G	-	1	0	ANAPC5	120269172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.468000	0.66743	1.288000	0.44600	0.655000	0.94253	GGC		0.368	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			7	54	1	0	0.000442599	1	0.00048047	7	54				
DDX52	11056	broad.mit.edu	37	17	35992283	35992283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35992283C>T	ENST00000349699.2	-	4	506	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DDX52_ENST00000394367.3_Missense_Mutation_p.D47N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	155						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCAGGAAGATCGGTTCCTTGG	0.388																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(463-465)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							149.0	147.0	148.0					17																	35992283		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35992283C>T	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.463G>A	17.37:g.35992283C>T	ENSP00000268854:p.Asp155Asn					DDX52_ENST00000394367.3_Missense_Mutation_p.D47N	p.D155N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			4	506	-		Breast(25;0.00637)|Ovarian(249;0.15)	155					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.463G>A	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497186	0.64186	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.15017	2.46;2.49	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.52126	1.63	0.58432	D	0.999999	B;B	0.18968	0.021;0.032	B;B	0.12156	0.007;0.007	T	0.06445	-1.0826	10	0.15499	T	0.54	.	18.4755	0.90791	0.0:1.0:0.0:0.0	.	154;155	Q59H21;Q9Y2R4	.;DDX52_HUMAN	N	155;47	ENSP00000268854:D155N;ENSP00000377893:D47N	ENSP00000268854:D155N	D	-	1	0	DDX52	33066396	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.160000	0.77495	2.622000	0.88805	0.655000	0.94253	GAT		0.388	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		28	74	0	0	0	1	0	28	74				
DCBLD2	131566	broad.mit.edu	37	3	98600529	98600529	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98600529G>A	ENST00000326840.6	-	2	650	c.288C>T	c.(286-288)agC>agT	p.S96S	DCBLD2_ENST00000326857.9_Silent_p.S96S|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	96	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CACAAACAGTGCTGTTGGGAT	0.413																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(286-288)agC>agT		discoidin, CUB and LCCL domain containing 2							171.0	165.0	166.0					3																	98600529		1907	4117	6024	SO:0001819	synonymous_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98600529G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.288C>T	3.37:g.98600529G>A						DCBLD2_ENST00000326857.9_Silent_p.S96S|DCBLD2_ENST00000469648.1_Intron	p.S96S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			2	650	-			96			CUB.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	37	c.288C>T	CCDS46878.1																																																																																				0.413	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		53	91	0	0	0	1	0	53	91				
NPFF	8620	broad.mit.edu	37	12	53899497	53899497	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53899497G>A	ENST00000267017.3	-	0	592				TARBP2_ENST00000394357.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000456234.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000266987.2_Missense_Mutation_p.R269Q|TARBP2_ENST00000552857.1_Silent_p.T135T	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GATTCTCTACGAAATTCAGTA	0.602																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(805-807)cGa>cAa		TAR (HIV-1) RNA binding protein 2							110.0	113.0	112.0					12																	53899497		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53899497G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899497G>A						TARBP2_ENST00000394357.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000456234.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000552857.1_Silent_p.T135T	p.R269Q	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			8	1289	+			269			Sufficient for interaction with DICER1.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.806G>A	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487011	0.96323	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	T;T;T	0.67171	-0.25;-0.23;-0.23	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79736	0.4497	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.78051	-0.2355	10	0.39692	T	0.17	-6.981	17.5584	0.87900	0.0:0.0:1.0:0.0	.	269	Q15633	TRBP2_HUMAN	Q	269;248;248	ENSP00000266987:R269Q;ENSP00000416077:R248Q;ENSP00000377885:R248Q	ENSP00000266987:R269Q	R	+	2	0	TARBP2	52185764	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.366000	0.79548	2.759000	0.94783	0.561000	0.74099	CGA		0.602	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		58	120	0	0	0	1	0	58	120				
TTC17	55761	broad.mit.edu	37	11	43423045	43423045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.C423C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1267-1269)tgC>tgT		tetratricopeptide repeat domain 17							132.0	116.0	122.0					11																	43423045		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43423045C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1269C>T	11.37:g.43423045C>T						TTC17_ENST00000299240.6_Silent_p.C423C|TTC17_ENST00000526774.1_3'UTR	p.C423C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			10	1283	+			423					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.1269C>T	CCDS31466.1																																																																																				0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		4	20	0	0	0	1	0	4	20				
LEPREL1	55214	broad.mit.edu	37	3	189692442	189692442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189692442C>T	ENST00000319332.5	-	9	1554	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.V272I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	453					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.V453I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTTGTAGACGAATGTGATG	0.537																																						ENST00000319332.5																			1	Substitution - Missense(1)	p.V453I(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1357-1359)Gtc>Atc		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						89.0	70.0	76.0					3																	189692442		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189692442C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1357G>A	3.37:g.189692442C>T	ENSP00000316881:p.Val453Ile					LEPREL1_ENST00000427335.2_Missense_Mutation_p.V272I	p.V453I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	9	1554	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		453					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1357G>A	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755469	0.89843	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.67698	-0.28;-0.28	5.81	5.81	0.92471	.	0.059957	0.64402	D	0.000003	T	0.53302	0.1788	L	0.47190	1.495	0.58432	D	0.999992	P	0.38978	0.652	B	0.26693	0.072	T	0.54788	-0.8241	9	.	.	.	-24.1597	12.3876	0.55340	0.0:0.9238:0.0:0.0761	.	453	Q8IVL5	P3H2_HUMAN	I	453;272	ENSP00000316881:V453I;ENSP00000408947:V272I	.	V	-	1	0	LEPREL1	191175136	0.969000	0.33509	0.974000	0.42286	0.959000	0.62525	2.358000	0.44134	2.738000	0.93877	0.655000	0.94253	GTC		0.537	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		14	27	0	0	0	1	0	14	27				
CLK3	1198	broad.mit.edu	37	15	74914483	74914483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74914483G>A	ENST00000395066.3	+	4	1297	c.836G>A	c.(835-837)cGc>cAc	p.R279H	CLK3_ENST00000345005.4_Missense_Mutation_p.R131H|CLK3_ENST00000352989.5_Missense_Mutation_p.R131H|CLK3_ENST00000348245.3_Intron	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	279					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGCAGTAAGCGCAGCAGCCGG	0.562																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(835-837)cGc>cAc		CDC-like kinase 3							146.0	121.0	129.0					15																	74914483		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74914483G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.836G>A	15.37:g.74914483G>A	ENSP00000378505:p.Arg279His					CLK3_ENST00000352989.5_Missense_Mutation_p.R131H|CLK3_ENST00000345005.4_Missense_Mutation_p.R131H|CLK3_ENST00000348245.3_Intron	p.R279H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			4	1297	+			279					D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.836G>A	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529648	0.85706	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T;T	0.60548	0.69;0.18;0.77	5.46	5.46	0.80206	.	0.210963	0.34959	N	0.003542	T	0.67702	0.2921	L	0.46819	1.47	0.80722	D	1	D;D;D	0.76494	0.999;0.982;0.999	P;B;P	0.57324	0.76;0.212;0.818	T	0.68830	-0.5305	10	0.56958	D	0.05	.	19.3153	0.94211	0.0:0.0:1.0:0.0	.	279;58;131	P49761;B3KUU7;G5E959	CLK3_HUMAN;.;.	H	131;131;279;131	ENSP00000344112:R131H;ENSP00000378505:R131H;ENSP00000323106:R131H	ENSP00000344112:R131H	R	+	2	0	CLK3	72701536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.948000	0.87774	2.559000	0.86315	0.655000	0.94253	CGC		0.562	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			12	28	0	0	0	1	0	12	28				
PDZRN4	29951	broad.mit.edu	37	12	41966493	41966493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966493C>T	ENST00000402685.2	+	10	1920	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	PDZRN4_ENST00000298919.7_Nonsense_Mutation_p.R378*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.R380*	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	638							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGCAAGATTCGAAATCATGG	0.458																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1132-1134)Cga>Tga		PDZ domain containing ring finger 4							100.0	96.0	97.0					12																	41966493		2203	4300	6503	SO:0001587	stop_gained	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966493C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1912C>T	12.37:g.41966493C>T	ENSP00000384197:p.Arg638*					PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.R380*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.R638*	p.R378*			Q6ZMN7	PZRN4_HUMAN			10	1520	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	638					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	ENST00000402685.2	37	c.1132C>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	37	6.532196	0.97641	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	.	.	.	4.49	2.56	0.30785	.	0.491340	0.18803	N	0.130726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-10.5756	13.5052	0.61479	0.2847:0.7153:0.0:0.0	.	.	.	.	X	638;380;378	.	ENSP00000298919:R378X	R	+	1	2	PDZRN4	40252760	0.018000	0.18449	0.007000	0.13788	0.979000	0.70002	0.668000	0.25127	0.550000	0.28991	0.650000	0.86243	CGA		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		22	25	0	0	0	1	0	22	25				
NUP98	4928	broad.mit.edu	37	11	3697536	3697536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3697536G>A	ENST00000324932.7	-	33	5676	c.5256C>T	c.(5254-5256)tcC>tcT	p.S1752S	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.S1678S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1769					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTGTTGAGTCGGAGGTTCTAT	0.562			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5254-5256)tcC>tcT		nucleoporin 98kDa							92.0	93.0	93.0					11																	3697536		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697536G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5256C>T	11.37:g.3697536G>A						NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.S1678S	p.S1752S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5676	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1769					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.5256C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	6.998	0.554228	0.13374	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.65	-8.2	0.01045	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0166	2.5738	0.04801	0.1498:0.1916:0.4029:0.2556	.	.	.	.	X	705	.	.	R	-	1	2	NUP98	3654112	0.000000	0.05858	0.780000	0.31762	0.799000	0.45148	-0.999000	0.03697	-0.742000	0.04790	-0.474000	0.04947	CGA		0.562	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		38	66	0	0	0	1	0	38	66				
UBA7	7318	broad.mit.edu	37	3	49848098	49848098	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49848098G>A	ENST00000333486.3	-	12	1477	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	440	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AATGGCACCAGCGCCCACCTG	0.612																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1318-1320)gCt>gTt		ubiquitin-like modifier activating enzyme 7							111.0	121.0	118.0					3																	49848098		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49848098G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1319C>T	3.37:g.49848098G>A	ENSP00000333266:p.Ala440Val						p.A440V	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	12	1477	-			440			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1319C>T	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474647	0.96291	.	.	ENSG00000182179	ENST00000333486	T	0.52983	0.64	5.67	5.67	0.87782	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.051911	0.85682	D	0.000000	T	0.75700	0.3885	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79881	-0.1616	10	0.87932	D	0	-9.2149	19.7824	0.96422	0.0:0.0:1.0:0.0	.	440	P41226	UBA7_HUMAN	V	440	ENSP00000333266:A440V	ENSP00000333266:A440V	A	-	2	0	UBA7	49823102	1.000000	0.71417	0.993000	0.49108	0.869000	0.49853	7.917000	0.87498	2.677000	0.91161	0.561000	0.74099	GCT		0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		51	105	0	0	0	1	0	51	105				
GINS2	51659	broad.mit.edu	37	16	85721174	85721174	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85721174G>T	ENST00000253462.3	-	2	197	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	33					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						AAAGGCCCCAGGTCCCCCTGC	0.473																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(97-99)Ctg>Atg		GINS complex subunit 2 (Psf2 homolog)							60.0	59.0	60.0					16																	85721174		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85721174G>T	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.97C>A	16.37:g.85721174G>T	ENSP00000253462:p.Leu33Met						p.L33M	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			2	197	-			33					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.97C>A	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261103	0.39995	.	.	ENSG00000131153	ENST00000253462	.	.	.	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000003	T	0.46889	0.1416	L	0.29908	0.895	0.58432	D	0.999994	D;D	0.57257	0.979;0.979	P;P	0.50378	0.639;0.639	T	0.43556	-0.9384	9	0.45353	T	0.12	-19.1803	9.6192	0.39710	0.0994:0.0:0.9006:0.0	.	33;33	Q53G08;Q9Y248	.;PSF2_HUMAN	M	33	.	ENSP00000253462:L33M	L	-	1	2	GINS2	84278675	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	2.389000	0.44407	2.009000	0.58944	0.484000	0.47621	CTG		0.473	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		6	43	1	0	8.12818e-05	1	8.99451e-05	6	43				
WDR11	55717	broad.mit.edu	37	10	122664854	122664854	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122664854A>G	ENST00000263461.6	+	26	3463	c.3217A>G	c.(3217-3219)Ata>Gta	p.I1073V	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTCTGCCTGATAGATAAGGC	0.498																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(3217-3219)Ata>Gta		WD repeat domain 11							86.0	81.0	83.0					10																	122664854		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122664854A>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3217A>G	10.37:g.122664854A>G	ENSP00000263461:p.Ile1073Val					WDR11_ENST00000604509.1_3'UTR	p.I1073V	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			26	3463	+			1073					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.3217A>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354190	0.61293	.	.	ENSG00000120008	ENST00000263461	D	0.91843	-2.92	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	L	0.39898	1.24	0.80722	D	1	P;P;D;D	0.71674	0.913;0.913;0.998;0.965	P;P;D;B	0.66497	0.891;0.891;0.944;0.322	D	0.93425	0.6780	10	0.44086	T	0.13	-26.4304	16.3756	0.83387	1.0:0.0:0.0:0.0	.	1073;1073;364;602	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	V	1073	ENSP00000263461:I1073V	ENSP00000263461:I1073V	I	+	1	0	WDR11	122654844	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	7.052000	0.76634	2.270000	0.75569	0.460000	0.39030	ATA		0.498	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			4	43	0	0	0	1	0	4	43				
CYB5D1	124637	broad.mit.edu	37	17	7761608	7761608	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7761608C>T	ENST00000332439.4	+	1	308	c.156C>T	c.(154-156)taC>taT	p.Y52Y	LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000335155.5_5'Flank|CYB5D1_ENST00000570446.1_Intron|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000570555.1_5'UTR|LSMD1_ENST00000575071.1_5'Flank|CYB5D1_ENST00000571846.1_Silent_p.Y52Y	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	52	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.						heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CACAGGAATACAAGGGTAAGG	0.602											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332439.4																			0				breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6						c.(154-156)taC>taT		cytochrome b5 domain containing 1							71.0	73.0	72.0					17																	7761608		2203	4300	6503	SO:0001819	synonymous_variant	124637						heme binding	g.chr17:7761608C>T	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.156C>T	17.37:g.7761608C>T			OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'UTR|CYB5D1_ENST00000571846.1_Silent_p.Y52Y|CYB5D1_ENST00000570446.1_Intron	p.Y52Y	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN			1	308	+		all_cancers(10;0.11)|Prostate(122;0.219)	52			Cytochrome b5 heme-binding.		D3DTQ8|Q96DM7	Silent	SNP	ENST00000332439.4	37	c.156C>T	CCDS11123.1																																																																																				0.602	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607		4	63	0	0	0	1	0	4	63				
DGAT1	8694	broad.mit.edu	37	8	145540576	145540576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145540576G>A	ENST00000332324.4	-	16	1524	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	417					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGCTCACCAGGTACTGAGATG	0.642																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(1249-1251)taC>taT		diacylglycerol O-acyltransferase 1							49.0	43.0	45.0					8																	145540576		2199	4293	6492	SO:0001819	synonymous_variant	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145540576G>A	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1251C>T	8.37:g.145540576G>A						DGAT1_ENST00000527438.1_5'UTR	p.Y417Y	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		16	1524	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		417					B2RWQ2|D3DWL6|Q96BB8	Silent	SNP	ENST00000332324.4	37	c.1251C>T	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720096	0.48728	.	.	ENSG00000185000	ENST00000526479	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	T	0.31575	0.0801	.	.	.	0.80722	D	1	B	0.24368	0.102	B	0.24701	0.055	T	0.11155	-1.0599	7	0.10902	T	0.67	-16.6151	8.4339	0.32775	0.1049:0.0:0.8951:0.0	.	252	E9PS80	.	S	252	.	ENSP00000435883:P252S	P	-	1	0	DGAT1	145511384	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.055000	0.49916	2.368000	0.80403	0.561000	0.74099	CCT		0.642	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		5	6	0	0	0	1	0	5	6				
PDE4D	5144	broad.mit.edu	37	5	58271516	58271516	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58271516C>T	ENST00000340635.6	-	14	2156	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	PDE4D_ENST00000360047.5_Missense_Mutation_p.D525N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D539N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D600N|PDE4D_ENST00000317118.8_Missense_Mutation_p.D370N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D359N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D597N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D531N|PDE4D_ENST00000502484.2_Missense_Mutation_p.D600N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	661					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTGTGCTTGTCACACATGGGG	0.493																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1981-1983)Gac>Aac		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						97.0	101.0	100.0					5																	58271516		2174	4296	6470	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58271516C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1981G>A	5.37:g.58271516C>T	ENSP00000345502:p.Asp661Asn					PDE4D_ENST00000317118.8_Missense_Mutation_p.D370N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D539N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D597N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D531N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D600N|PDE4D_ENST00000502484.2_Missense_Mutation_p.D600N|PDE4D_ENST00000360047.5_Missense_Mutation_p.D525N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D359N	p.D661N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	14	2156	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	661					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1981G>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203447	0.95033	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	4.4	4.4	0.53042	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.85470	0.5704	M	0.71296	2.17	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.995;0.996;0.995;1.0;1.0;0.995;0.994;0.997	D;D;D;D;D;D;D;D	0.97110	0.99;0.996;0.99;1.0;1.0;0.99;0.969;0.978	D	0.87538	0.2457	10	0.87932	D	0	.	17.5214	0.87787	0.0:1.0:0.0:0.0	.	600;661;597;524;539;531;436;370	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	N	661;530;525;597;359;370;531;539;600;600;359	ENSP00000345502:D661N;ENSP00000353152:D525N;ENSP00000424852:D597N;ENSP00000351800:D359N;ENSP00000321739:D370N;ENSP00000425605:D531N;ENSP00000384806:D539N;ENSP00000423094:D600N;ENSP00000442734:D600N;ENSP00000421013:D359N	ENSP00000321739:D370N	D	-	1	0	PDE4D	58307273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.602000	0.82796	2.427000	0.82271	0.655000	0.94253	GAC		0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			3	30	0	0	0	1	0	3	30				
DOCK5	80005	broad.mit.edu	37	8	25249495	25249495	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25249495C>A	ENST00000276440.7	+	43	4483	c.4439C>A	c.(4438-4440)gCt>gAt	p.A1480D		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1480	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATGAATTTGCTGTGAGTTCA	0.522																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e43+1		dedicator of cytokinesis 5							62.0	55.0	57.0					8																	25249495		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25249495C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4440+1C>A	8.37:g.25249495C>A							p.A1480_splice	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	43	4483	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1480			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	ENST00000276440.7	37	c.4440_splice	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780845	0.90195	.	.	ENSG00000147459	ENST00000276440	T	0.17528	2.27	3.94	3.94	0.45596	.	0.191311	0.44688	D	0.000438	T	0.42086	0.1187	M	0.88570	2.965	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.54664	0.758;0.758	T	0.57505	-0.7800	10	0.66056	D	0.02	.	16.3208	0.82950	0.0:1.0:0.0:0.0	.	1470;1480	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	D	1480	ENSP00000276440:A1480D	ENSP00000276440:A1480D	A	+	2	0	DOCK5	25305412	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.244000	0.78228	1.878000	0.54408	0.557000	0.71058	GCT		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation	11	8	1	0	1.58986e-06	1	1.84011e-06	11	8				
ATP1A3	478	broad.mit.edu	37	19	42489540	42489540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42489540G>T	ENST00000302102.5	-	7	792	c.642C>A	c.(640-642)ccC>ccA	p.P214P	ATP1A3_ENST00000545399.1_Silent_p.P227P|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Silent_p.P225P|ATP1A3_ENST00000602133.1_Silent_p.P184P	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	214					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCGAGTCTGGGGCTCGGATT	0.592																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(679-681)ccC>ccA		ATPase, Na+/K+ transporting, alpha 3 polypeptide							81.0	77.0	78.0					19																	42489540		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489540G>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.642C>A	19.37:g.42489540G>T						ATP1A3_ENST00000543770.1_Silent_p.P225P|ATP1A3_ENST00000302102.5_Silent_p.P214P|ATP1A3_ENST00000602133.1_Silent_p.P184P	p.P227P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			7	834	-			214					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.681C>A	CCDS12594.1																																																																																				0.592	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		17	48	1	0	1.01871e-10	1	1.25892e-10	17	48				
ANK1	286	broad.mit.edu	37	8	41559097	41559097	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41559097T>C	ENST00000347528.4	-	22	2515	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	ANK1_ENST00000379758.2_Missense_Mutation_p.D811G|ANK1_ENST00000352337.4_Missense_Mutation_p.D811G|ANK1_ENST00000265709.8_Missense_Mutation_p.D844G|ANK1_ENST00000396942.1_Missense_Mutation_p.D811G|ANK1_ENST00000289734.7_Missense_Mutation_p.D811G|ANK1_ENST00000396945.1_Missense_Mutation_p.D811G	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	811	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGATCTCATCAACTGTCTC	0.493											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2431-2433)gAt>gGt		ankyrin 1, erythrocytic							125.0	114.0	118.0					8																	41559097		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41559097T>C	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2432A>G	8.37:g.41559097T>C	ENSP00000339620:p.Asp811Gly		OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000347528.4_Missense_Mutation_p.D811G|ANK1_ENST00000379758.2_Missense_Mutation_p.D811G|ANK1_ENST00000396945.1_Missense_Mutation_p.D811G|ANK1_ENST00000352337.4_Missense_Mutation_p.D811G|ANK1_ENST00000265709.8_Missense_Mutation_p.D844G|ANK1_ENST00000289734.7_Missense_Mutation_p.D811G	p.D811G			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		22	2515	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	811			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2432A>G	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.0|24.0	4.479753|4.479753	0.84747|0.84747	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.66638|.	-0.22;-0.22;-0.19;-0.17;-0.2;-0.18;-0.2|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Ankyrin repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75788|.	0.3897|.	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;B;B;D;B|.	0.64830|.	0.981;0.994;0.005;0.449;0.981;0.321|.	D;D;B;B;D;B|.	0.65684|.	0.937;0.918;0.017;0.343;0.937;0.256|.	T|.	0.75923|.	-0.3146|.	10|.	0.51188|.	T|.	0.08|.	.|.	16.4504|16.4504	0.83984|0.83984	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	844;811;811;811;811;119|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	G|W	811;811;811;811;811;811;844;811|124	ENSP00000339620:D811G;ENSP00000289734:D811G;ENSP00000369082:D811G;ENSP00000380149:D811G;ENSP00000380147:D811G;ENSP00000309131:D811G;ENSP00000265709:D844G|.	ENSP00000265709:D844G|.	D|X	-|-	2|3	0|0	ANK1|ANK1	41678254|41678254	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.881000|0.881000	0.50899|0.50899	4.988000|4.988000	0.63863|0.63863	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.493	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	83	0	0	0	1	0	4	83				
FAM86C1	55199	broad.mit.edu	37	11	71507088	71507088	+	Missense_Mutation	SNP	C	C	T	rs200980899		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71507088C>T	ENST00000359244.4	+	4	310	c.287C>T	c.(286-288)tCg>tTg	p.S96L	FAM86C1_ENST00000346333.6_Missense_Mutation_p.S62L|FAM86C1_ENST00000426628.2_Missense_Mutation_p.S89L	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	96										lung(1)	1						CAGAAGCCATCGTGTCGCTGG	0.602																																						ENST00000359244.4																			0				lung(1)	1						c.(286-288)tCg>tTg		family with sequence similarity 86, member C1							46.0	50.0	49.0					11																	71507088		2200	4288	6488	SO:0001583	missense	55199							g.chr11:71507088C>T	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.287C>T	11.37:g.71507088C>T	ENSP00000352182:p.Ser96Leu					FAM86C1_ENST00000528685.1_Missense_Mutation_p.S62L|FAM86C1_ENST00000426628.2_Missense_Mutation_p.S89L|FAM86C1_ENST00000346333.6_Missense_Mutation_p.S62L	p.S96L	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN			4	310	+			96					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.287C>T	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337868	0.24253	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.25414	1.8;3.62;1.82;1.8	1.49	0.381	0.16228	.	.	.	.	.	T	0.24236	0.0587	N	0.24115	0.695	0.09310	N	1	B;D;P	0.61697	0.025;0.99;0.933	B;P;B	0.55455	0.001;0.776;0.123	T	0.11991	-1.0565	9	0.87932	D	0	.	4.57	0.12205	0.3752:0.6248:0.0:0.0	.	89;62;96	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	L	62;96;89;62	ENSP00000325662:S62L;ENSP00000352182:S96L;ENSP00000391329:S89L;ENSP00000436598:S62L	ENSP00000325662:S62L	S	+	2	0	FAM86C1	71184736	0.001000	0.12720	0.024000	0.17045	0.183000	0.23260	0.468000	0.22051	0.124000	0.18369	0.184000	0.17185	TCG		0.602	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		35	53	0	0	0	1	0	35	53				
TM9SF2	9375	broad.mit.edu	37	13	100193921	100193921	+	Splice_Site	SNP	G	G	A	rs372230370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100193921G>A	ENST00000376387.4	+	9	1207	c.1017G>A	c.(1015-1017)acG>acA	p.T339T		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	339					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TGGACTCTACGGTAAGTGGAA	0.338																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.e9+1		transmembrane 9 superfamily member 2							172.0	158.0	162.0					13																	100193921		2203	4300	6503	SO:0001630	splice_region_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100193921G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1017+1G>A	13.37:g.100193921G>A							p.T339_splice	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			9	1207	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		339					A8K399|Q2TAY5	Splice_Site	SNP	ENST00000376387.4	37	c.1017_splice	CCDS9493.1																																																																																				0.338	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3		Silent	3	84	0	0	0	1	0	3	84				
ZBTB47	92999	broad.mit.edu	37	3	42701050	42701050	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42701050G>A	ENST00000232974.6	+	2	1484	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	ZBTB47_ENST00000457842.3_Silent_p.G25G|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGCGGGGTGGGAAGAGGCCAA	0.706																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(73-75)ggG>ggA		zinc finger and BTB domain containing 47							12.0	17.0	16.0					3																	42701050		1845	4082	5927	SO:0001819	synonymous_variant	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42701050G>A	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1203G>A	3.37:g.42701050G>A						ZBTB47_ENST00000232974.6_Silent_p.G401G|ZBTB47_ENST00000505904.1_Intron	p.G25G	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	1484	+			25					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	ENST00000232974.6	37	c.75G>A	CCDS46805.2																																																																																				0.706	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		5	8	0	0	0	1	0	5	8				
GMIP	51291	broad.mit.edu	37	19	19741109	19741109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19741109G>A	ENST00000203556.4	-	21	2713	c.2576C>T	c.(2575-2577)aCa>aTa	p.T859I	GMIP_ENST00000587238.1_Missense_Mutation_p.T833I|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000542587.1_5'Flank|LPAR2_ENST00000407877.3_5'Flank|GMIP_ENST00000445806.2_Missense_Mutation_p.T830I|LPAR2_ENST00000589311.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	859					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGAGACTGTGTCCCCAGGAG	0.627																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2575-2577)aCa>aTa		GEM interacting protein							39.0	45.0	43.0					19																	19741109		2202	4300	6502	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19741109G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2576C>T	19.37:g.19741109G>A	ENSP00000203556:p.Thr859Ile					GMIP_ENST00000445806.2_Missense_Mutation_p.T830I|GMIP_ENST00000587238.1_Missense_Mutation_p.T833I	p.T859I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			21	2713	-			859					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2576C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072901	0.36566	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.24350	1.89;1.86	5.29	4.24	0.50183	.	0.159061	0.29522	N	0.011917	T	0.25306	0.0615	L	0.32530	0.975	0.24673	N	0.993403	P;P;P	0.50066	0.931;0.931;0.931	P;P;P	0.47402	0.546;0.546;0.546	T	0.05566	-1.0877	10	0.54805	T	0.06	-5.1571	11.3019	0.49311	0.0:0.0:0.8179:0.1821	.	830;833;859	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	I	859;830	ENSP00000203556:T859I;ENSP00000397075:T830I	ENSP00000203556:T859I	T	-	2	0	GMIP	19602109	0.950000	0.32346	0.206000	0.23566	0.205000	0.24178	4.246000	0.58740	1.213000	0.43380	-0.314000	0.08810	ACA		0.627	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		17	29	0	0	0	1	0	17	29				
ZNF566	84924	broad.mit.edu	37	19	36940119	36940119	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940119G>A	ENST00000434377.2	-	5	1098	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y	ZNF566_ENST00000424129.2_Silent_p.Y339Y|ZNF566_ENST00000493391.1_Silent_p.Y235Y|ZNF566_ENST00000454319.1_Silent_p.Y340Y|ZNF566_ENST00000392170.2_Silent_p.Y340Y	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCTTACATTCGTAAGGTTTCT	0.398																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1018-1020)taC>taT		zinc finger protein 566							62.0	66.0	65.0					19																	36940119		2203	4300	6503	SO:0001819	synonymous_variant	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940119G>A	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.1017C>T	19.37:g.36940119G>A						ZNF566_ENST00000424129.2_Silent_p.Y339Y|ZNF566_ENST00000392170.2_Silent_p.Y340Y|ZNF566_ENST00000493391.1_Silent_p.Y235Y|ZNF566_ENST00000434377.2_Silent_p.Y339Y	p.Y340Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			5	1154	-	Esophageal squamous(110;0.162)		339					B7ZL95|Q2M3J1	Silent	SNP	ENST00000434377.2	37	c.1020C>T	CCDS12494.1																																																																																				0.398	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		16	27	0	0	0	1	0	16	27				
PTPRH	5794	broad.mit.edu	37	19	55693505	55693505	+	Missense_Mutation	SNP	C	C	T	rs376054614		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55693505C>T	ENST00000376350.3	-	19	3099	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|SYT5_ENST00000537500.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.R848H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1026	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTTCCTGTGCGACCCACGCC	0.597																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3076-3078)cGc>cAc		protein tyrosine phosphatase, receptor type, H		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	78.0	78.0	78.0		2543,3077	3.8	1.0	19		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	848/938,1026/1116	55693505	1,13005	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693505C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3077G>A	19.37:g.55693505C>T	ENSP00000365528:p.Arg1026His					PTPRH_ENST00000263434.5_Missense_Mutation_p.R848H	p.R1026H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3099	-		Renal(1328;0.245)	1026			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3077G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250954	0.80135	0.0	1.16E-4	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.43294	0.95;0.95	4.86	3.81	0.43845	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.37393	N	0.002115	T	0.74959	0.3785	H	0.98980	4.39	0.52099	D	0.999945	D;D	0.69078	0.997;0.997	P;P	0.61328	0.822;0.887	D	0.84699	0.0727	10	0.87932	D	0	.	12.7985	0.57571	0.0:0.9169:0.0:0.0831	.	848;1026	C9JCH2;Q9HD43	.;PTPRH_HUMAN	H	1026;848	ENSP00000365528:R1026H;ENSP00000263434:R848H	ENSP00000263434:R848H	R	-	2	0	PTPRH	60385317	0.837000	0.29446	1.000000	0.80357	0.790000	0.44656	2.361000	0.44160	1.183000	0.42943	0.650000	0.86243	CGC		0.597	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			15	51	0	0	0	1	0	15	51				
MTHFR	4524	broad.mit.edu	37	1	11856453	11856453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11856453T>C	ENST00000376592.1	-	4	718	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	MTHFR_ENST00000376590.3_Missense_Mutation_p.Y197C|MTHFR_ENST00000376583.3_Missense_Mutation_p.Y238C|MTHFR_ENST00000376585.1_Missense_Mutation_p.Y238C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	197					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GCCTTTGGGGTAACCTGCCAA	0.572																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(589-591)tAc>tGc		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						90.0	89.0	90.0					1																	11856453		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11856453T>C	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.590A>G	1.37:g.11856453T>C	ENSP00000365777:p.Tyr197Cys					MTHFR_ENST00000376583.3_Missense_Mutation_p.Y238C|MTHFR_ENST00000376585.1_Missense_Mutation_p.Y238C|MTHFR_ENST00000376590.3_Missense_Mutation_p.Y197C	p.Y197C			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	718	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	197					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.590A>G	CCDS137.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632567	0.87660	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99433	1.0936	10	0.87932	D	0	.	13.822	0.63329	0.0:0.0:0.0:1.0	.	197;238	P42898;Q5SNW6	MTHR_HUMAN;.	C	197;238;197;238	ENSP00000365777:Y197C;ENSP00000365767:Y238C;ENSP00000365775:Y197C;ENSP00000365770:Y238C	ENSP00000365767:Y238C	Y	-	2	0	MTHFR	11779040	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.349000	0.79376	1.998000	0.58463	0.533000	0.62120	TAC		0.572	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		9	128	0	0	0	1	0	9	128				
ABCA4	24	broad.mit.edu	37	1	94496601	94496601	+	Missense_Mutation	SNP	C	C	T	rs554101094		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94496601C>T	ENST00000370225.3	-	28	4290	c.4204G>A	c.(4204-4206)Gct>Act	p.A1402T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1402					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGGTCAAAGCGGGGTATTCG	0.532																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(4204-4206)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 4							114.0	97.0	103.0					1																	94496601		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496601C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4204G>A	1.37:g.94496601C>T	ENSP00000359245:p.Ala1402Thr						p.A1402T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	28	4290	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1402					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.4204G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742452	0.30865	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.93811	-3.29	5.0	1.99	0.26369	.	0.518222	0.21514	N	0.073336	D	0.84415	0.5467	M	0.75777	2.31	0.20563	N	0.999885	B	0.12630	0.006	B	0.08055	0.003	T	0.77493	-0.2567	10	0.41790	T	0.15	.	5.9501	0.19242	0.0:0.6401:0.1371:0.2228	.	1402	P78363	ABCA4_HUMAN	T	194;1402	ENSP00000359245:A1402T	ENSP00000359245:A1402T	A	-	1	0	ABCA4	94269189	0.639000	0.27234	0.141000	0.22245	0.588000	0.36517	1.247000	0.32815	0.716000	0.32124	0.655000	0.94253	GCT		0.532	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		14	26	0	0	0	1	0	14	26				
RPS6KC1	26750	broad.mit.edu	37	1	213414375	213414375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213414375A>G	ENST00000366960.3	+	11	1706	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Y507C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Y307C|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Y222C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	519					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAATGAATATGGGCAAGAA	0.403																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1555-1557)tAt>tGt		ribosomal protein S6 kinase, 52kDa, polypeptide 1							40.0	41.0	41.0					1																	213414375		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414375A>G	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1556A>G	1.37:g.213414375A>G	ENSP00000355927:p.Tyr519Cys					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Y222C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Y307C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Y507C	p.Y519C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1706	+			519					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1556A>G	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279505	0.59758	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.70516	0.03;0.31;0.35;-0.49	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85408	0.1135	10	0.87932	D	0	-10.9667	15.7631	0.78103	1.0:0.0:0.0:0.0	.	307;519;507	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	C	307;519;507;222	ENSP00000442306:Y307C;ENSP00000355927:Y519C;ENSP00000355926:Y507C;ENSP00000439282:Y222C	ENSP00000355926:Y507C	Y	+	2	0	RPS6KC1	211480998	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	8.652000	0.91083	2.126000	0.65437	0.377000	0.23210	TAT		0.403	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		4	42	0	0	0	1	0	4	42				
FAM161A	84140	broad.mit.edu	37	2	62067501	62067501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62067501C>T	ENST00000405894.3	-	3	739	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FAM161A_ENST00000404929.1_Missense_Mutation_p.R213H	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	213					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCTTTACAGCGAATATAATC	0.388																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(637-639)cGc>cAc		family with sequence similarity 161, member A							191.0	171.0	177.0					2																	62067501		1869	4099	5968	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62067501C>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.638G>A	2.37:g.62067501C>T	ENSP00000385893:p.Arg213His					FAM161A_ENST00000405894.3_Missense_Mutation_p.R213H	p.R213H	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	649	-			213					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.638G>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	2.286	-0.363499	0.05103	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.25414	2.62;1.8	5.55	-2.96	0.05547	.	0.992212	0.08190	N	0.983970	T	0.13415	0.0325	N	0.22421	0.69	0.09310	N	1	B;B	0.25486	0.127;0.011	B;B	0.11329	0.006;0.004	T	0.31861	-0.9928	10	0.22109	T	0.4	-9.9875	7.4713	0.27351	0.0:0.3414:0.1729:0.4857	.	213;213	Q3B820;Q3B820-3	F161A_HUMAN;.	H	213	ENSP00000385158:R213H;ENSP00000385893:R213H	ENSP00000385158:R213H	R	-	2	0	FAM161A	61921005	0.026000	0.19158	0.026000	0.17262	0.010000	0.07245	-0.081000	0.11321	-0.416000	0.07473	-1.099000	0.02127	CGC		0.388	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		10	126	0	0	0	1	0	10	126				
KAZN	23254	broad.mit.edu	37	1	15382733	15382733	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15382733G>A	ENST00000376030.2	+	5	1167	c.873G>A	c.(871-873)caG>caA	p.Q291Q	KAZN_ENST00000361144.5_Silent_p.Q285Q|KAZN_ENST00000400797.3_Silent_p.Q197Q|KAZN_ENST00000503743.1_Silent_p.Q291Q|KAZN_ENST00000422387.2_Silent_p.Q291Q|KAZN_ENST00000400798.2_Silent_p.Q197Q	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	291	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGAGTCAACAGACTCTCTACC	0.667																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(871-873)caG>caA		kazrin, periplakin interacting protein							43.0	38.0	40.0					1																	15382733		2203	4300	6503	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15382733G>A	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.873G>A	1.37:g.15382733G>A						KAZN_ENST00000503743.1_Silent_p.Q291Q|KAZN_ENST00000400797.3_Silent_p.Q197Q|KAZN_ENST00000361144.5_Silent_p.Q285Q|KAZN_ENST00000422387.2_Silent_p.Q291Q|KAZN_ENST00000400798.2_Silent_p.Q197Q	p.Q291Q	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			5	1167	+			291			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.873G>A	CCDS152.2																																																																																				0.667	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		12	20	0	0	0	1	0	12	20				
GAD1	2571	broad.mit.edu	37	2	171675163	171675163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171675163C>T	ENST00000358196.3	+	2	612	c.62C>T	c.(61-63)aCc>aTc	p.T21I	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.T21I|AC007405.8_ENST00000451730.1_RNA|AC007405.8_ENST00000455988.1_RNA|AC007405.8_ENST00000418106.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.T21I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	21					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GACCCCAATACCACTAACCTG	0.627																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(61-63)aCc>aTc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						73.0	74.0	74.0					2																	171675163		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171675163C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.62C>T	2.37:g.171675163C>T	ENSP00000350928:p.Thr21Ile					GAD1_ENST00000344257.5_Missense_Mutation_p.T21I|GAD1_ENST00000375272.1_Missense_Mutation_p.T21I|GAD1_ENST00000429023.1_3'UTR	p.T21I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			2	612	+			21					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.62C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312326	0.81358	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T;T	0.79845	-1.18;-1.31;2.29;0.42;0.42;-1.16;-1.18	5.67	5.67	0.87782	.	0.100108	0.64402	D	0.000001	T	0.74007	0.3660	N	0.22421	0.69	0.34757	D	0.732402	B;P	0.37015	0.149;0.578	B;B	0.38056	0.064;0.264	T	0.80647	-0.1289	10	0.54805	T	0.06	-14.6249	19.7782	0.96405	0.0:1.0:0.0:0.0	.	21;21	Q99259;Q99259-3	DCE1_HUMAN;.	I	21	ENSP00000402366:T21I;ENSP00000394948:T21I;ENSP00000350928:T21I;ENSP00000364421:T21I;ENSP00000341167:T21I;ENSP00000405917:T21I;ENSP00000394255:T21I	ENSP00000341167:T21I	T	+	2	0	GAD1	171383409	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	4.868000	0.63021	2.667000	0.90743	0.561000	0.74099	ACC		0.627	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			19	51	0	0	0	1	0	19	51				
FUT6	2528	broad.mit.edu	37	19	5832132	5832132	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832132G>A	ENST00000318336.4	-	3	1641	c.447C>T	c.(445-447)gaC>gaT	p.D149D	FUT6_ENST00000286955.5_Silent_p.D149D|FUT6_ENST00000592563.1_Silent_p.D149D|FUT6_ENST00000524754.1_Silent_p.D149D|FUT6_ENST00000527106.1_Silent_p.D149D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	149					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGAAGTATCCGTCCATGGCTT	0.657																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(445-447)gaC>gaT		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							80.0	61.0	67.0					19																	5832132		2203	4299	6502	SO:0001819	synonymous_variant	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832132G>A		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.447C>T	19.37:g.5832132G>A						FUT6_ENST00000527106.1_Silent_p.D149D|FUT6_ENST00000592563.1_Silent_p.D149D|FUT6_ENST00000524754.1_Silent_p.D149D|FUT6_ENST00000286955.5_Silent_p.D149D	p.D149D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1641	-			149					A6NEX0|D6W637|Q9UND8	Silent	SNP	ENST00000318336.4	37	c.447C>T	CCDS12152.1																																																																																				0.657	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		16	25	0	0	0	1	0	16	25				
AGAP1	116987	broad.mit.edu	37	2	236649637	236649637	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236649637A>G	ENST00000304032.8	+	4	921	c.341A>G	c.(340-342)gAt>gGt	p.D114G	AGAP1_ENST00000336665.5_Missense_Mutation_p.D114G|AGAP1_ENST00000409538.1_Missense_Mutation_p.D379G|AGAP1_ENST00000409457.1_Missense_Mutation_p.D114G	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	114	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTGTCGTTGATGGACAGAGC	0.527																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1135-1137)gAt>gGt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							129.0	119.0	122.0					2																	236649637		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236649637A>G	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.341A>G	2.37:g.236649637A>G	ENSP00000307634:p.Asp114Gly					AGAP1_ENST00000409457.1_Missense_Mutation_p.D114G|AGAP1_ENST00000304032.7_Missense_Mutation_p.D114G|AGAP1_ENST00000336665.5_Missense_Mutation_p.D114G	p.D379G			Q9UPQ3	AGAP1_HUMAN			4	1632	+			114			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1136A>G	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990261	0.74589	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.86805	2.84	0.80722	D	1	P;D	0.57257	0.9;0.979	P;D	0.79784	0.836;0.993	T	0.65356	-0.6188	10	0.87932	D	0	.	14.664	0.68893	1.0:0.0:0.0:0.0	.	114;114	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	G	114;114;114;61;379	ENSP00000387174:D114G;ENSP00000307634:D114G;ENSP00000338378:D114G;ENSP00000385492:D61G;ENSP00000386897:D379G	ENSP00000307634:D114G	D	+	2	0	AGAP1	236314376	1.000000	0.71417	0.667000	0.29798	0.539000	0.34962	9.168000	0.94781	1.911000	0.55334	0.459000	0.35465	GAT		0.527	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		6	45	0	0	0	1	0	6	45				
NPM1	4869	broad.mit.edu	37	5	170817090	170817090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170817090A>G	ENST00000296930.5	+	2	395	c.94A>G	c.(94-96)Aag>Gag	p.K32E	NPM1_ENST00000393820.2_Missense_Mutation_p.K32E|NPM1_ENST00000351986.6_Missense_Mutation_p.K32E|NPM1_ENST00000517671.1_Missense_Mutation_p.K32E	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	32	Necessary for interaction with APEX1.|Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTATCACTTTAAGGTGGATAA	0.328			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(94-96)Aag>Gag		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							70.0	70.0	70.0					5																	170817090		2203	4299	6502	SO:0001583	missense	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170817090A>G	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.94A>G	5.37:g.170817090A>G	ENSP00000296930:p.Lys32Glu					NPM1_ENST00000517671.1_Missense_Mutation_p.K32E|NPM1_ENST00000393820.2_Missense_Mutation_p.K32E|NPM1_ENST00000351986.6_Missense_Mutation_p.K32E	p.K32E	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	395	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	32			Necessary for interaction with APEX1.|Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	c.94A>G	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328344	0.60743	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986;ENST00000393820;ENST00000523622	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.74	4.74	0.60224	Nucleoplasmin core (2);	0.176564	0.47093	U	0.000242	T	0.45597	0.1350	M	0.74467	2.265	0.36319	D	0.858135	B;B;B	0.20887	0.034;0.049;0.004	B;B;B	0.23574	0.018;0.047;0.02	T	0.54860	-0.8230	10	0.46703	T	0.11	.	13.5432	0.61686	1.0:0.0:0.0:0.0	.	32;32;32	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	E	32;32;32;32;24	ENSP00000428755:K32E;ENSP00000296930:K32E;ENSP00000341168:K32E;ENSP00000377408:K32E;ENSP00000428647:K24E	ENSP00000296930:K32E	K	+	1	0	NPM1	170749695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	1.894000	0.54839	0.533000	0.62120	AAG		0.328	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		17	22	0	0	0	1	0	17	22				
EIF4G2	1982	broad.mit.edu	37	11	10820605	10820605	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10820605T>C	ENST00000526148.1	-	21	3102	c.2592A>G	c.(2590-2592)gaA>gaG	p.E864E	EIF4G2_ENST00000525681.1_Silent_p.E864E|EIF4G2_ENST00000396525.2_Silent_p.E826E|EIF4G2_ENST00000339995.5_Silent_p.E864E|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAAGAAAGCTTCTTCTTCAA	0.328																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2590-2592)gaA>gaG		eukaryotic translation initiation factor 4 gamma, 2							82.0	92.0	88.0					11																	10820605		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820605T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2592A>G	11.37:g.10820605T>C						EIF4G2_ENST00000525681.1_Silent_p.E864E|EIF4G2_ENST00000396525.2_Silent_p.E826E|EIF4G2_ENST00000339995.5_Silent_p.E864E|RP11-685M7.5_ENST00000532365.1_RNA	p.E864E	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	21	3102	-			864			W2.			Silent	SNP	ENST00000526148.1	37	c.2592A>G	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	9.471	1.095631	0.20471	.	.	ENSG00000110321	ENST00000379653	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	T	0.76948	0.4059	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.79950	-0.1587	4	0.87932	D	0	-10.8896	16.5206	0.84315	0.0:0.0:0.0:1.0	.	.	.	.	R	245	.	ENSP00000368974:K245R	K	-	2	0	EIF4G2	10777181	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.073000	0.64395	2.299000	0.77371	0.533000	0.62120	AAG		0.328	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		62	77	0	0	0	1	0	62	77				
QDPR	5860	broad.mit.edu	37	4	17492298	17492298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17492298C>A	ENST00000281243.5	-	6	795	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	QDPR_ENST00000508623.1_Intron|QDPR_ENST00000428702.2_Nonsense_Mutation_p.E175*|QDPR_ENST00000513615.1_3'UTR	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	206					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						ACTAGGAATTCTAAGGGTGTC	0.507																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(616-618)Gaa>Taa		quinoid dihydropteridine reductase	NADH(DB00157)						129.0	115.0	120.0					4																	17492298		2203	4300	6503	SO:0001587	stop_gained	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17492298C>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.616G>T	4.37:g.17492298C>A	ENSP00000281243:p.Glu206*					QDPR_ENST00000428702.2_Nonsense_Mutation_p.E175*|QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000508623.1_Intron	p.E206*	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			6	795	-			206					A8K158|B3KW71|Q53F52|Q9H3M5	Nonsense_Mutation	SNP	ENST00000281243.5	37	c.616G>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	C	38	7.096239	0.98059	.	.	ENSG00000151552	ENST00000281243;ENST00000428702	.	.	.	5.34	5.34	0.76211	.	0.205916	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.235	17.816	0.88634	0.0:1.0:0.0:0.0	.	.	.	.	X	206;175	.	ENSP00000281243:E206X	E	-	1	0	QDPR	17101396	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.898000	0.75676	2.492000	0.84095	0.650000	0.86243	GAA		0.507	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		7	17	1	0	0.0381472	1	0.0390147	7	17				
CCDC40	55036	broad.mit.edu	37	17	78073542	78073542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78073542G>A	ENST00000397545.4	+	20	3424	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T	GAA_ENST00000302262.3_5'Flank|GAA_ENST00000390015.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1133					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGATGATCGCCAACAAGCT	0.617																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(3397-3399)Gcc>Acc		coiled-coil domain containing 40							32.0	37.0	35.0					17																	78073542		2029	4195	6224	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073542G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3397G>A	17.37:g.78073542G>A	ENSP00000380679:p.Ala1133Thr						p.A1133T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		20	3424	+	all_neural(118;0.167)		1133					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.3397G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522444	0.27211	.	.	ENSG00000141519	ENST00000397545	T	0.47177	0.85	4.76	-1.14	0.09741	.	.	.	.	.	T	0.28267	0.0698	L	0.33485	1.01	0.09310	N	1	B;B	0.27971	0.123;0.196	B;B	0.14578	0.005;0.011	T	0.12967	-1.0527	9	0.27785	T	0.31	-2.0602	4.9667	0.14094	0.1824:0.0:0.4488:0.3688	.	1133;916	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	T	1133	ENSP00000380679:A1133T	ENSP00000380679:A1133T	A	+	1	0	CCDC40	75688137	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.154000	0.10130	-0.218000	0.10018	0.655000	0.94253	GCC		0.617	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		7	17	0	0	0	1	0	7	17				
MAGED1	9500	broad.mit.edu	37	X	51640976	51640976	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640976T>C	ENST00000375722.1	+	7	1904	c.1652T>C	c.(1651-1653)cTg>cCg	p.L551P	MAGED1_ENST00000375772.3_Missense_Mutation_p.L551P|MAGED1_ENST00000375695.2_Missense_Mutation_p.L607P|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.L551P			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	551	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCTGGCATACTGGGAACGTAA	0.463										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1819-1821)cTg>cCg		melanoma antigen family D, 1							43.0	42.0	42.0					X																	51640976		2202	4300	6502	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640976T>C	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1652T>C	X.37:g.51640976T>C	ENSP00000364874:p.Leu551Pro	Multiple Myeloma(10;0.10)				MAGED1_ENST00000375722.1_Missense_Mutation_p.L551P|MAGED1_ENST00000375772.3_Missense_Mutation_p.L551P|MAGED1_ENST00000326587.7_Missense_Mutation_p.L551P|MAGED1_ENST00000494718.1_3'UTR	p.L607P	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			8	1973	+	Ovarian(276;0.236)		551			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1820T>C	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498988	0.26861	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	3.63	3.63	0.41609	.	0.000000	0.28694	N	0.014454	T	0.17195	0.0413	M	0.65320	2	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.74023	0.982;0.98	T	0.00460	-1.1726	10	0.72032	D	0.01	.	6.3145	0.21182	0.0:0.0:0.2531:0.7469	.	607;551	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	P	551;551;551;607	ENSP00000364927:L551P;ENSP00000364874:L551P;ENSP00000325333:L551P;ENSP00000364847:L607P	ENSP00000325333:L551P	L	+	2	0	MAGED1	51657716	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.370000	0.34238	1.655000	0.50712	0.412000	0.27726	CTG		0.463	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		8	11	0	0	0	1	0	8	11				
LTK	4058	broad.mit.edu	37	15	41797698	41797698	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797698A>C	ENST00000263800.6	-	14	1824	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	LTK_ENST00000453182.2_Missense_Mutation_p.C446W|LTK_ENST00000355166.5_Missense_Mutation_p.C515W|LTK_ENST00000561619.1_Missense_Mutation_p.C274W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGAGCCCCACACACCGCACAA	0.577										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(1726-1728)tgT>tgG		leukocyte receptor tyrosine kinase							41.0	40.0	40.0					15																	41797698		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797698A>C	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1728T>G	15.37:g.41797698A>C	ENSP00000263800:p.Cys576Trp	TSP Lung(18;0.14)				LTK_ENST00000561619.1_Missense_Mutation_p.C274W|LTK_ENST00000453182.2_Missense_Mutation_p.C446W|LTK_ENST00000355166.5_Missense_Mutation_p.C515W	p.C576W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	14	1824	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	576			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1728T>G	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944662	0.53079	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;T	0.89050	-2.46;-2.46;0.05	4.06	-1.04	0.10068	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.89626	0.6769	L	0.39514	1.22	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.976;1.0;1.0	D	0.85736	0.1334	9	0.72032	D	0.01	.	8.3095	0.32062	0.6261:0.0:0.3739:0.0	.	446;446;515;576	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	W	515;576;446	ENSP00000347293:C515W;ENSP00000263800:C576W;ENSP00000392196:C446W	ENSP00000263800:C576W	C	-	3	2	LTK	39584990	0.989000	0.36119	0.249000	0.24280	0.965000	0.64279	0.255000	0.18333	-0.417000	0.07461	0.402000	0.26972	TGT		0.577	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			6	23	0	0	0	1	0	6	23				
PHACTR4	65979	broad.mit.edu	37	1	28793148	28793148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28793148C>T	ENST00000373839.3	+	6	953	c.692C>T	c.(691-693)cCc>cTc	p.P231L	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P241L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	231	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGCACCCAGGACTCTG	0.577																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(691-693)cCc>cTc		phosphatase and actin regulator 4							57.0	66.0	63.0					1																	28793148		2119	4229	6348	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28793148C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.692C>T	1.37:g.28793148C>T	ENSP00000362945:p.Pro231Leu					PHACTR4_ENST00000373836.3_Missense_Mutation_p.P241L|PHACTR4_ENST00000493669.1_3'UTR	p.P231L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	6	953	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	231			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.692C>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895025	0.52121	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.26373	1.74;1.84	5.55	5.55	0.83447	.	0.325349	0.30101	N	0.010418	T	0.39358	0.1075	L	0.38531	1.155	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.373	D;D;B	0.91635	0.999;0.997;0.117	T	0.08411	-1.0723	10	0.51188	T	0.08	-3.6078	11.5504	0.50716	0.0:0.9176:0.0:0.0824	.	241;231;215	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	L	231;241;230	ENSP00000362945:P231L;ENSP00000362942:P241L	ENSP00000362942:P241L	P	+	2	0	PHACTR4	28665735	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	4.736000	0.62059	2.609000	0.88269	0.561000	0.74099	CCC		0.577	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		11	17	0	0	0	1	0	11	17				
ZNF329	79673	broad.mit.edu	37	19	58640145	58640145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640145C>A	ENST00000598312.1	-	4	959	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ZNF329_ENST00000358067.4_Missense_Mutation_p.K242N	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGTTGTAGTTCTTGGAGAAGG	0.448																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(724-726)aaG>aaT		zinc finger protein 329							141.0	136.0	138.0					19																	58640145		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640145C>A	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.726G>T	19.37:g.58640145C>A	ENSP00000470008:p.Lys242Asn					ZNF329_ENST00000358067.4_Missense_Mutation_p.K242N	p.K242N	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	959	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	242					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.726G>T	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154795	0.38021	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.36157	1.27;1.27	4.46	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000171	T	0.17280	0.0415	N	0.11427	0.14	0.32129	N	0.587034	B	0.15141	0.012	B	0.14578	0.011	T	0.07673	-1.0760	10	0.44086	T	0.13	-21.9218	6.19	0.20518	0.4346:0.4773:0.0:0.0881	.	242	Q86UD4	ZN329_HUMAN	N	242	ENSP00000350773:K242N;ENSP00000439527:K242N	ENSP00000350773:K242N	K	-	3	2	ZNF329	63331957	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.304000	0.08199	0.808000	0.34231	0.655000	0.94253	AAG		0.448	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		61	84	1	0	1.80625e-27	1	2.41067e-27	61	84				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>T	17.37:g.7579312C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	15	57	1	0	5.3912e-06	1	6.15692e-06	15	57				
OSBPL6	114880	broad.mit.edu	37	2	179238699	179238699	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179238699C>A	ENST00000190611.4	+	15	1854	c.1478C>A	c.(1477-1479)tCt>tAt	p.S493Y	OSBPL6_ENST00000392505.2_Missense_Mutation_p.S518Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S457Y|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S457Y|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S426Y|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S497Y|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S462Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	493					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGTCTGTTTCTGAGTTCTTT	0.498																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1477-1479)tCt>tAt		oxysterol binding protein-like 6							136.0	121.0	127.0					2																	179238699		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179238699C>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1478C>A	2.37:g.179238699C>A	ENSP00000190611:p.Ser493Tyr					OSBPL6_ENST00000315022.2_Missense_Mutation_p.S497Y|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S462Y|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S518Y|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S457Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S457Y|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S426Y	p.S493Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		15	1854	+			493					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1478C>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.998728	0.93227	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.12984	2.64;2.66;2.63;2.65;2.63;2.66;2.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	M	0.68317	2.08	0.80722	D	1	P;D;D;D;D;D	0.76494	0.684;0.999;0.994;0.999;0.998;0.999	P;D;D;D;D;D	0.87578	0.464;0.998;0.983;0.998;0.991;0.996	T	0.05818	-1.0862	10	0.87932	D	0	-3.0308	20.2182	0.98305	0.0:1.0:0.0:0.0	.	462;497;457;518;493;426	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	Y	518;457;426;462;493;457;497	ENSP00000376293:S518Y;ENSP00000352713:S457Y;ENSP00000349591:S426Y;ENSP00000387248:S462Y;ENSP00000190611:S493Y;ENSP00000386885:S457Y;ENSP00000318723:S497Y	ENSP00000190611:S493Y	S	+	2	0	OSBPL6	178946945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.785000	0.95823	0.655000	0.94253	TCT		0.498	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		27	43	1	0	6.07407e-21	1	7.98272e-21	27	43				
ACAP3	116983	broad.mit.edu	37	1	1235548	1235548	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1235548A>G	ENST00000354700.5	-	7	759	c.557T>C	c.(556-558)aTc>aCc	p.I186T	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.I144T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	186					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGTCCAGGATCTCAAACTT	0.652																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(556-558)aTc>aCc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							47.0	48.0	48.0					1																	1235548		2203	4296	6499	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1235548A>G	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.557T>C	1.37:g.1235548A>G	ENSP00000346733:p.Ile186Thr					ACAP3_ENST00000353662.3_Missense_Mutation_p.I144T	p.I186T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			7	759	-			186					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.557T>C	CCDS19.2	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625150	0.46840	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04603	3.59;3.59	2.96	2.96	0.34315	.	0.125619	0.51477	D	0.000084	T	0.20373	0.0490	M	0.86268	2.805	0.44531	D	0.997485	D;P;P	0.60160	0.987;0.626;0.51	D;B;B	0.64410	0.925;0.219;0.23	T	0.03068	-1.1076	10	0.87932	D	0	.	12.0909	0.53726	1.0:0.0:0.0:0.0	.	226;186;144	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	T	186;144	ENSP00000346733:I186T;ENSP00000321139:I144T	ENSP00000321139:I144T	I	-	2	0	ACAP3	1225411	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.680000	0.74518	1.611000	0.50210	0.247000	0.18012	ATC		0.652	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		9	24	0	0	0	1	0	9	24				
F8	2157	broad.mit.edu	37	X	154156921	154156921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154156921C>T	ENST00000360256.4	-	14	5344	c.5144G>A	c.(5143-5145)cGa>cAa	p.R1715Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild). {ECO:0000269|PubMed:1349567, ECO:0000269|PubMed:9886318}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAATAGTGTCGTGTTTTCTT	0.398																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM057443|CM067378	F8	M		c.(5143-5145)cGa>cAa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						73.0	63.0	66.0					X																	154156921		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154156921C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5144G>A	X.37:g.154156921C>T	ENSP00000353393:p.Arg1715Gln						p.R1715Q	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5344	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1715		R -> G (in HEMA; mild).	F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5144G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305025	0.81247	.	.	ENSG00000185010	ENST00000360256	D	0.99070	-5.39	5.01	5.01	0.66863	Cupredoxin (2);	0.303929	0.32147	N	0.006514	D	0.99230	0.9732	M	0.86268	2.805	0.41145	D	0.985989	D	0.89917	1.0	D	0.85130	0.997	D	0.99501	1.0953	10	0.72032	D	0.01	-12.3121	12.724	0.57159	0.0:1.0:0.0:0.0	.	1715	P00451	FA8_HUMAN	Q	1715	ENSP00000353393:R1715Q	ENSP00000353393:R1715Q	R	-	2	0	F8	153810115	0.999000	0.42202	0.872000	0.34217	0.988000	0.76386	3.996000	0.57009	2.056000	0.61249	0.544000	0.68410	CGA		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	57	0	0	0	1	0	5	57				
MTR	4548	broad.mit.edu	37	1	237025635	237025635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237025635G>T	ENST00000366577.5	+	21	2690	c.2296G>T	c.(2296-2298)Gaa>Taa	p.E766*	MTR_ENST00000535889.1_Nonsense_Mutation_p.E715*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	766					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGCACAGTAGAAGAAGAGGC	0.493																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2296-2298)Gaa>Taa		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						113.0	115.0	115.0					1																	237025635		2203	4300	6503	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237025635G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2296G>T	1.37:g.237025635G>T	ENSP00000355536:p.Glu766*					MTR_ENST00000535889.1_Nonsense_Mutation_p.E715*	p.E766*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	21	2690	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	766					A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.2296G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844592	0.91197	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.23	4.32	0.51571	.	0.105496	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-19.2901	13.6772	0.62460	0.0735:0.0:0.9265:0.0	.	.	.	.	X	620;766;715;320	.	ENSP00000355535:E320X	E	+	1	0	MTR	235092258	1.000000	0.71417	0.942000	0.38095	0.414000	0.31173	6.622000	0.74233	1.439000	0.47511	0.650000	0.86243	GAA		0.493	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		6	93	1	0	0.00116845	1	0.00124821	6	93				
FGFR1	2260	broad.mit.edu	37	8	38285863	38285863	+	Splice_Site	SNP	C	C	T	rs376416531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38285863C>T	ENST00000447712.2	-	4	1390		c.e4+1		FGFR1_ENST00000356207.5_Splice_Site|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000397103.1_Intron|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000532791.1_Splice_Site|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000335922.5_Splice_Site|FGFR1_ENST00000397113.2_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1						angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAGTGTCTCACGCATACGGTT	0.512		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						C|||	0	0.0	0.0	0.0	5008	,	,		22742	0.0		0.0	False		,,,				2504	0.0				Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.e4+1		fibroblast growth factor receptor 1	Palifermin(DB00039)						249.0	258.0	255.0					8																	38285863		2005	4168	6173	SO:0001630	splice_region_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38285863C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.448+1G>A	8.37:g.38285863C>T						FGFR1_ENST00000356207.5_Splice_Site|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000335922.5_Splice_Site|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000532791.1_Splice_Site		NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		4	1390	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)						A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Splice_Site	SNP	ENST00000447712.2	37		CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866699	0.72065	.	.	ENSG00000077782	ENST00000447712;ENST00000310729;ENST00000532791;ENST00000356207;ENST00000335922;ENST00000525001;ENST00000529552	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0551	0.53529	0.0:0.9217:0.0:0.0783	.	.	.	.	.	-1	.	.	.	-	.	.	FGFR1	38405020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.711000	0.37930	2.664000	0.90586	0.563000	0.77884	.		0.512	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Intron	13	28	0	0	0	1	0	13	28				
TBC1D15	64786	broad.mit.edu	37	12	72278787	72278787	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72278787T>C	ENST00000550746.1	+	5	604	c.540T>C	c.(538-540)taT>taC	p.Y180Y	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000485960.2_Silent_p.Y180Y|TBC1D15_ENST00000319106.8_Silent_p.Y188Y	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	180					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGAAAAATATGTGGTATTGT	0.353																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(538-540)taT>taC		TBC1 domain family, member 15							134.0	135.0	135.0					12																	72278787		2203	4300	6503	SO:0001819	synonymous_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72278787T>C	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.540T>C	12.37:g.72278787T>C						TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Silent_p.Y188Y|TBC1D15_ENST00000485960.2_Silent_p.Y180Y	p.Y180Y	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			5	604	+			180					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	37	c.540T>C	CCDS31858.1																																																																																				0.353	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		5	66	0	0	0	1	0	5	66				
BRD2	6046	broad.mit.edu	37	6	32945321	32945321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32945321G>A	ENST00000374825.4	+	8	3004	c.1303G>A	c.(1303-1305)Gtt>Att	p.V435I	BRD2_ENST00000395287.1_Missense_Mutation_p.V435I|BRD2_ENST00000449085.2_Missense_Mutation_p.V388I|BRD2_ENST00000395289.2_Missense_Mutation_p.V435I|BRD2_ENST00000443797.2_Missense_Mutation_p.V315I|BRD2_ENST00000374831.4_Missense_Mutation_p.V435I	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	435	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGATCACGATGTTGTGGCAAT	0.458																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(1303-1305)Gtt>Att		bromodomain containing 2							234.0	203.0	214.0					6																	32945321		1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32945321G>A	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1303G>A	6.37:g.32945321G>A	ENSP00000363958:p.Val435Ile					BRD2_ENST00000374831.4_Missense_Mutation_p.V435I|BRD2_ENST00000449085.2_Missense_Mutation_p.V388I|BRD2_ENST00000395287.1_Missense_Mutation_p.V435I|BRD2_ENST00000443797.2_Missense_Mutation_p.V315I|BRD2_ENST00000374825.4_Missense_Mutation_p.V435I	p.V435I			P25440	BRD2_HUMAN			8	2904	+			435			Bromo 2.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.1303G>A	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.949385|4.949385	0.92660|0.92660	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.17691	.|2.26;2.26;2.26;2.26;2.26;2.26	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Bromodomain (6);	.|0.151893	.|0.30723	.|N	.|0.009006	T|T	0.20292|0.20292	0.0488|0.0488	L|L	0.31476|0.31476	0.935|0.935	0.80722|0.80722	D|D	1|1	.|D;P	.|0.60575	.|0.988;0.929	.|D;P	.|0.65140	.|0.932;0.805	T|T	0.00880|0.00880	-1.1529|-1.1529	5|10	.|0.52906	.|T	.|0.07	-18.331|-18.331	16.3836|16.3836	0.83490|0.83490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|435;435	.|A2AAU0;P25440	.|.;BRD2_HUMAN	I|I	440|435;435;435;315;435;388	.|ENSP00000363958:V435I;ENSP00000363964:V435I;ENSP00000378704:V435I;ENSP00000413495:V315I;ENSP00000378702:V435I;ENSP00000409145:V388I	.|ENSP00000363958:V435I	M|V	+|+	3|1	0|0	BRD2|BRD2	33053299|33053299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.617000|9.617000	0.98361|0.98361	2.730000|2.730000	0.93505|0.93505	0.643000|0.643000	0.83706|0.83706	ATG|GTT		0.458	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			59	90	0	0	0	1	0	59	90				
PRDM2	7799	broad.mit.edu	37	1	14105542	14105542	+	Missense_Mutation	SNP	C	C	T	rs560676423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14105542C>T	ENST00000235372.7	+	8	2108	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	PRDM2_ENST00000343137.4_Missense_Mutation_p.R217W|PRDM2_ENST00000413440.1_Missense_Mutation_p.R217W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R418W|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGGGTTAAAGCGGAAACCCAG	0.512																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1252-1254)Cgg>Tgg		PR domain containing 2, with ZNF domain							50.0	49.0	50.0					1																	14105542		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105542C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1252C>T	1.37:g.14105542C>T	ENSP00000235372:p.Arg418Trp					PRDM2_ENST00000343137.4_Missense_Mutation_p.R217W|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R418W|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R217W	p.R418W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2108	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	418					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1252C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529214	0.44969	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01821	4.74;4.62;4.64;4.64	5.18	3.13	0.36017	.	0.059761	0.64402	D	0.000004	T	0.07638	0.0192	M	0.64997	1.995	0.48341	D	0.999636	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.976;0.965;0.976;0.989	T	0.07539	-1.0767	10	0.62326	D	0.03	.	12.2494	0.54589	0.4545:0.5455:0.0:0.0	.	418;276;418;418	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	W	418;418;418;217;217	ENSP00000235372:R418W;ENSP00000312352:R418W;ENSP00000411103:R217W;ENSP00000341621:R217W	ENSP00000235372:R418W	R	+	1	2	PRDM2	13978129	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	2.906000	0.48735	1.244000	0.43870	0.561000	0.74099	CGG		0.512	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		14	25	0	0	0	1	0	14	25				
PCGF6	84108	broad.mit.edu	37	10	105086326	105086326	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105086326G>T	ENST00000369847.3	-	8	941	c.874C>A	c.(874-876)Ctc>Atc	p.L292I	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L217I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	292					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTTCTTCTGAGGAATTTTTCT	0.348																																						ENST00000369847.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(874-876)Ctc>Atc		polycomb group ring finger 6							88.0	86.0	87.0					10																	105086326		2203	4300	6503	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105086326G>T	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.874C>A	10.37:g.105086326G>T	ENSP00000358862:p.Leu292Ile					PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L217I	p.L292I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	8	941	-		Colorectal(252;0.0747)|Breast(234;0.128)	292					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.874C>A	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296899	0.40594	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.46063	0.88;1.22	5.0	5.0	0.66597	.	0.056804	0.64402	D	0.000001	T	0.49440	0.1557	N	0.17594	0.5	0.29932	N	0.821821	D;B	0.67145	0.996;0.057	D;B	0.75484	0.986;0.008	T	0.52881	-0.8516	10	0.52906	T	0.07	.	17.0714	0.86574	0.0:0.0:1.0:0.0	.	217;292	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	I	292;217	ENSP00000358862:L292I;ENSP00000338845:L217I	ENSP00000338845:L217I	L	-	1	0	PCGF6	105076316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.038000	0.64177	2.318000	0.78349	0.462000	0.41574	CTC		0.348	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		9	64	1	0	1.76689e-08	1	2.11513e-08	9	64				
MBD5	55777	broad.mit.edu	37	2	149227755	149227755	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149227755T>C	ENST00000407073.1	+	9	3240	c.2243T>C	c.(2242-2244)gTt>gCt	p.V748A	MBD5_ENST00000404807.1_Missense_Mutation_p.V748A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	748					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACTCTAGTGTTCTTCAGAAC	0.473																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2242-2244)gTt>gCt		methyl-CpG binding domain protein 5							95.0	92.0	93.0					2																	149227755		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227755T>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2243T>C	2.37:g.149227755T>C	ENSP00000386049:p.Val748Ala					MBD5_ENST00000404807.1_Missense_Mutation_p.V748A	p.V748A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3240	+			748					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2243T>C	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.130|6.130	0.392281|0.392281	0.11638|0.11638	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.47869	.|0.85;0.83	4.96|4.96	2.52|2.52	0.30459|0.30459	.|.	.|0.367187	.|0.23476	.|N	.|0.047763	T|T	0.21761|0.21761	0.0524|0.0524	N|N	0.08118|0.08118	0|0	0.30478|0.30478	N|N	0.772675|0.772675	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.09422|0.09422	-1.0675|-1.0675	5|10	.|0.27082	.|T	.|0.32	-0.0131|-0.0131	4.2269|4.2269	0.10584|0.10584	0.0:0.224:0.3372:0.4387|0.0:0.224:0.3372:0.4387	.|.	.|748;748	.|Q9P267-2;Q9P267	.|.;MBD5_HUMAN	L|A	488|748	.|ENSP00000386049:V748A;ENSP00000384672:V748A	.|ENSP00000384672:V748A	F|V	+|+	1|2	0|0	MBD5|MBD5	148944225|148944225	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.436000|0.436000	0.21526|0.21526	0.443000|0.443000	0.26582|0.26582	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			19	28	0	0	0	1	0	19	28				
OCRL	4952	broad.mit.edu	37	X	128692974	128692974	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128692974T>C	ENST00000371113.4	+	8	883	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	OCRL_ENST00000357121.5_Missense_Mutation_p.F240L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	240	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CATTCAGACTTTCAGGTTAGT	0.398																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(718-720)Ttc>Ctc		oculocerebrorenal syndrome of Lowe							109.0	104.0	106.0					X																	128692974		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128692974T>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.718T>C	X.37:g.128692974T>C	ENSP00000360154:p.Phe240Leu					OCRL_ENST00000357121.5_Missense_Mutation_p.F240L	p.F240L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			8	883	+			240					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.718T>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847015	0.91277	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94723	-3.5;-3.5	5.29	5.29	0.74685	Endonuclease/exonuclease/phosphatase (1);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.62723	1.935	0.80722	D	1	D;P	0.89917	1.0;0.794	D;B	0.85130	0.997;0.14	D	0.95900	0.8914	9	.	.	.	.	13.5499	0.61726	0.0:0.0:0.0:1.0	.	240;240	Q01968-2;Q01968	.;OCRL_HUMAN	L	240	ENSP00000360154:F240L;ENSP00000349635:F240L	.	F	+	1	0	OCRL	128520655	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.503000	0.81632	1.864000	0.54056	0.481000	0.45027	TTC		0.398	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		9	99	0	0	0	1	0	9	99				
MYH7B	57644	broad.mit.edu	37	20	33584474	33584474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33584474G>A	ENST00000262873.7	+	28	3397	c.3305G>A	c.(3304-3306)cGc>cAc	p.R1102H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1060						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGGCCAAGCGCAAGCTGGAG	0.617																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3304-3306)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							29.0	32.0	31.0					20																	33584474		2203	4300	6503	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33584474G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3305G>A	20.37:g.33584474G>A	ENSP00000262873:p.Arg1102His						p.R1102H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		28	3397	+			1060					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.3305G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091915	0.76756	.	.	ENSG00000078814	ENST00000262873	D	0.95307	-3.67	4.54	4.54	0.55810	.	0.000000	0.38436	N	0.001681	D	0.98021	0.9348	H	0.94183	3.505	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.98461	1.0596	10	0.51188	T	0.08	.	17.8567	0.88765	0.0:0.0:1.0:0.0	.	1060	A7E2Y1	MYH7B_HUMAN	H	1102	ENSP00000262873:R1102H	ENSP00000262873:R1102H	R	+	2	0	MYH7B	33048135	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.580000	0.74040	2.525000	0.85131	0.655000	0.94253	CGC		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		8	20	0	0	0	1	0	8	20				
CHCHD5	84269	broad.mit.edu	37	2	113343849	113343849	+	Silent	SNP	C	C	T	rs573555238		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343849C>T	ENST00000324913.5	+	3	423	c.216C>T	c.(214-216)aaC>aaT	p.N72N	CHCHD5_ENST00000409719.1_Silent_p.N72N|CHCHD5_ENST00000489052.1_3'UTR|AC012442.5_ENST00000414784.1_RNA	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	72	CHCH.					mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTCGACAGAACGAGGCAGCTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18091	0.001		0.0	False		,,,				2504	0.0					ENST00000409719.1																			0				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						c.(214-216)aaC>aaT		coiled-coil-helix-coiled-coil-helix domain containing 5							69.0	66.0	67.0					2																	113343849		2203	4300	6503	SO:0001819	synonymous_variant	84269							g.chr2:113343849C>T	BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.216C>T	2.37:g.113343849C>T						CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Silent_p.N72N	p.N72N			Q9BSY4	CHCH5_HUMAN			3	269	+			72			CHCH.		Q585T4|Q8N8C4	Silent	SNP	ENST00000324913.5	37	c.216C>T	CCDS2098.1																																																																																				0.622	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254081.2	NM_032309		22	31	0	0	0	1	0	22	31				
ABCA2	20	broad.mit.edu	37	9	139910430	139910430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139910430G>A	ENST00000371605.3	-	21	3445	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1101C|ABCA2_ENST00000265662.5_Missense_Mutation_p.R1101C|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1100	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCTCTCTGCGGATCTCCTCC	0.662																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(3301-3303)Cgc>Tgc		ATP-binding cassette, sub-family A (ABC1), member 2							48.0	42.0	44.0					9																	139910430		1917	4107	6024	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910430G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3298C>T	9.37:g.139910430G>A	ENSP00000360666:p.Arg1100Cys					ABCA2_ENST00000341511.6_Missense_Mutation_p.R1101C|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1100C	p.R1101C			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	22	3448	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1100			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3301C>T		.	.	.	.	.	.	.	.	.	.	G	15.52	2.856807	0.51376	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94046	-3.34;-3.34;-3.34	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.063179	0.64402	U	0.000003	D	0.91938	0.7447	M	0.64567	1.98	0.80722	D	1	B;B	0.21606	0.058;0.033	B;B	0.17433	0.017;0.018	D	0.90736	0.4646	10	0.72032	D	0.01	.	16.5127	0.84290	0.0:0.0:1.0:0.0	.	1100;1131	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	C	1101;1100;1131;1101	ENSP00000265662:R1101C;ENSP00000360666:R1100C;ENSP00000344155:R1101C	ENSP00000265662:R1101C	R	-	1	0	ABCA2	139030251	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.952000	0.56691	1.880000	0.54463	0.313000	0.20887	CGC		0.662	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		15	14	0	0	0	1	0	15	14				
SPIRE2	84501	broad.mit.edu	37	16	89936622	89936622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89936622G>A	ENST00000378247.3	+	15	2130	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R648H	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	696					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGCCACGACGCAGTCGCCAG	0.607																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2086-2088)cGc>cAc		spire-type actin nucleation factor 2							105.0	66.0	79.0					16																	89936622		2196	4300	6496	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89936622G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.2087G>A	16.37:g.89936622G>A	ENSP00000367494:p.Arg696His					SPIRE2_ENST00000393062.2_Missense_Mutation_p.R648H	p.R696H	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	15	2130	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	696					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.2087G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.982913	0.53827	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.52526	0.78;0.66	4.98	4.03	0.46877	Zinc finger, FYVE/PHD-type (1);	0.253542	0.36234	N	0.002703	T	0.42653	0.1212	M	0.68317	2.08	0.30179	N	0.800609	B;B;B;B	0.25007	0.066;0.116;0.116;0.116	B;B;B;B	0.16722	0.011;0.016;0.016;0.016	T	0.45571	-0.9252	10	0.40728	T	0.16	-26.7823	8.8347	0.35104	0.1724:0.0:0.8276:0.0	.	563;648;648;696	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	H	696;648	ENSP00000367494:R696H;ENSP00000376782:R648H	ENSP00000367494:R696H	R	+	2	0	SPIRE2	88464123	0.272000	0.24172	0.008000	0.14137	0.414000	0.31173	1.815000	0.38981	1.467000	0.48044	0.543000	0.68304	CGC		0.607	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		4	7	0	0	0	1	0	4	7				
RAB14	51552	broad.mit.edu	37	9	123943691	123943691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123943691C>A	ENST00000373840.4	-	8	868	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	211					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCACAGCCTTCTCTCTGGGGT	0.532																																						ENST00000373840.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(631-633)Gaa>Taa		RAB14, member RAS oncogene family							112.0	107.0	109.0					9																	123943691		2203	4300	6503	SO:0001587	stop_gained	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123943691C>A	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.631G>T	9.37:g.123943691C>A	ENSP00000362946:p.Glu211*						p.E211*	NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN			8	868	-			211					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Nonsense_Mutation	SNP	ENST00000373840.4	37	c.631G>T	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707392	0.89018	.	.	ENSG00000119396	ENST00000373840	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	19.6279	0.95687	0.0:1.0:0.0:0.0	.	.	.	.	X	211	.	ENSP00000362946:E211X	E	-	1	0	RAB14	122983512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.705000	0.84606	2.880000	0.98712	0.650000	0.86243	GAA		0.532	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		6	54	1	0	3.59834e-05	1	4.01776e-05	6	54				
C16orf87	388272	broad.mit.edu	37	16	46836914	46836914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46836914C>T	ENST00000285697.4	-	4	676	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	C16orf87_ENST00000564250.1_Intron|C16orf87_ENST00000394806.2_Missense_Mutation_p.A78T	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	139										large_intestine(4)|urinary_tract(1)	5						TCTGCCAAGGCGACTGAAAAC	0.328																																						ENST00000394806.2																			0				large_intestine(4)|urinary_tract(1)	5						c.(232-234)Gcc>Acc		chromosome 16 open reading frame 87							78.0	75.0	76.0					16																	46836914		2202	4300	6502	SO:0001583	missense	388272							g.chr16:46836914C>T		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.415G>A	16.37:g.46836914C>T	ENSP00000285697:p.Ala139Thr					C16orf87_ENST00000285697.4_Missense_Mutation_p.A139T|C16orf87_ENST00000564250.1_Intron	p.A78T			Q6PH81	CP087_HUMAN			3	244	-			139					Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	c.232G>A	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202236	0.94997	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.8	5.8	0.92144	.	0.046723	0.85682	D	0.000000	T	0.65091	0.2658	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.64980	-0.6279	9	0.41790	T	0.15	-15.7522	20.051	0.97627	0.0:1.0:0.0:0.0	.	139	Q6PH81	CP087_HUMAN	T	139;78	.	ENSP00000285697:A139T	A	-	1	0	C16orf87	45394415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.248000	0.78268	2.740000	0.93945	0.650000	0.86243	GCC		0.328	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		22	28	0	0	0	1	0	22	28				
ARID2	196528	broad.mit.edu	37	12	46231168	46231168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46231168T>C	ENST00000334344.6	+	9	1260	c.1088T>C	c.(1087-1089)cTa>cCa	p.L363P	ARID2_ENST00000422737.1_Missense_Mutation_p.L214P|ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	363					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAAAATGTCTAATGTCAAGG	0.303			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1087-1089)cTa>cCa		AT rich interactive domain 2 (ARID, RFX-like)							82.0	89.0	87.0					12																	46231168		2203	4295	6498	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231168T>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1088T>C	12.37:g.46231168T>C	ENSP00000335044:p.Leu363Pro					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L214P	p.L363P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	9	1260	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	363					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1088T>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743434	0.69418	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.60040	0.22;0.22	5.33	5.33	0.75918	.	0.076857	0.51477	D	0.000085	T	0.74313	0.3700	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.992;0.997	T	0.77638	-0.2513	10	0.87932	D	0	-1.9518	15.3006	0.73949	0.0:0.0:0.0:1.0	.	363;214;363	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	P	363;214	ENSP00000335044:L363P;ENSP00000415650:L214P	ENSP00000335044:L363P	L	+	2	0	ARID2	44517435	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	7.698000	0.84413	2.011000	0.59026	0.260000	0.18958	CTA		0.303	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		10	82	0	0	0	1	0	10	82				
DOCK9	23348	broad.mit.edu	37	13	99479116	99479116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99479116G>A	ENST00000376460.1	-	44	5002	c.4922C>T	c.(4921-4923)aCa>aTa	p.T1641I	DOCK9_ENST00000339416.2_Missense_Mutation_p.T1642I|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1642	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACTAGGGCTGTTACGTGGAC	0.393																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(4921-4923)aCa>aTa		dedicator of cytokinesis 9							101.0	91.0	94.0					13																	99479116		1927	4135	6062	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99479116G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4922C>T	13.37:g.99479116G>A	ENSP00000365643:p.Thr1641Ile					DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.T1642I	p.T1641I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			44	5002	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1642			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4922C>T	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.43|18.43	3.622999|3.622999	0.66901|0.66901	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000451563;ENST00000340449	.|T;T;T;T	.|0.43688	.|2.56;2.63;0.94;1.09	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.055572	.|0.85682	.|D	.|0.000000	.|T	.|0.28797	.|0.0714	N|N	0.11927|0.11927	0.2|0.2	0.80722|0.80722	D|D	1|1	.|P;B;B;B;B;B;B;B	.|0.37914	.|0.611;0.002;0.003;0.249;0.149;0.0;0.038;0.004	.|B;B;B;B;B;B;B;B	.|0.32677	.|0.05;0.017;0.017;0.062;0.15;0.003;0.027;0.038	.|T	.|0.25847	.|-1.0120	.|10	.|0.87932	.|D	.|0	.|.	19.5549|19.5549	0.95342|0.95342	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1642;361;285;1641;285;1642;334;284	.|A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;.;.;DOCK9_HUMAN;.;.	X|I	59|1641;1642;1634;1642;1641;572;1642;284;29;285	.|ENSP00000365643:T1641I;ENSP00000341086:T1642I;ENSP00000407610:T29I;ENSP00000344702:T285I	.|ENSP00000341086:T1642I	Q|T	-|-	1|2	0|0	DOCK9|DOCK9	98277117|98277117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.687000|0.687000	0.40016|0.40016	9.430000|9.430000	0.97488|0.97488	2.685000|2.685000	0.91497|0.91497	0.585000|0.585000	0.79938|0.79938	CAG|ACA		0.393	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		9	9	0	0	0	1	0	9	9				
NOTCH2	4853	broad.mit.edu	37	1	120464876	120464876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120464876C>A	ENST00000256646.2	-	28	5415	c.5196G>T	c.(5194-5196)caG>caT	p.Q1732H	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1732					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAGCATCCTGTCCCACTG	0.468			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5194-5196)caG>caT		notch 2							88.0	83.0	85.0					1																	120464876		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120464876C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5196G>T	1.37:g.120464876C>A	ENSP00000256646:p.Gln1732His						p.Q1732H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	28	5415	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1732					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5196G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913248	0.72983	.	.	ENSG00000134250	ENST00000256646	D	0.83075	-1.68	5.44	3.19	0.36642	.	0.000000	0.35708	U	0.003025	T	0.75287	0.3829	M	0.70595	2.14	0.52501	D	0.99995	P	0.46395	0.877	P	0.45037	0.467	T	0.78633	-0.2128	10	0.87932	D	0	.	7.3499	0.26684	0.0:0.7238:0.0:0.2762	.	1732	Q04721	NOTC2_HUMAN	H	1732	ENSP00000256646:Q1732H	ENSP00000256646:Q1732H	Q	-	3	2	NOTCH2	120266399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.610000	0.36869	1.433000	0.47394	0.655000	0.94253	CAG		0.468	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		6	39	1	0	5.18039e-06	1	5.91835e-06	6	39				
LYPD4	147719	broad.mit.edu	37	19	42341267	42341267	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42341267C>A	ENST00000330743.3	-	5	1902	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	LYPD4_ENST00000343055.4_Missense_Mutation_p.D196Y|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Missense_Mutation_p.D196Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	231						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAAGCAGGATCTTGCCTGGAG	0.478																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(691-693)Gat>Tat		LY6/PLAUR domain containing 4							136.0	125.0	129.0					19																	42341267		2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42341267C>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.691G>T	19.37:g.42341267C>A	ENSP00000328737:p.Asp231Tyr					LYPD4_ENST00000343055.4_Missense_Mutation_p.D196Y|LYPD4_ENST00000601246.1_Missense_Mutation_p.D196Y	p.D231Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			5	1902	-			231					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.691G>T	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	C	3.541	-0.093668	0.07053	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.11604	3.42;2.76	4.28	-3.54	0.04653	.	0.742174	0.12045	N	0.504660	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B;B	0.22080	0.064;0.038	B;B	0.20955	0.032;0.014	T	0.37888	-0.9686	10	0.32370	T	0.25	0.0177	1.0903	0.01662	0.1464:0.298:0.1623:0.3933	.	196;231	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	Y	231;196	ENSP00000328737:D231Y;ENSP00000339568:D196Y	ENSP00000328737:D231Y	D	-	1	0	LYPD4	47033107	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.763000	0.04740	-0.462000	0.06984	-1.186000	0.01703	GAT		0.478	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		9	99	1	0	1.76689e-08	1	2.11513e-08	9	99				
ADAMTS7	11173	broad.mit.edu	37	15	79059357	79059357	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79059357T>G	ENST00000388820.4	-	19	3106	c.2896A>C	c.(2896-2898)Aat>Cat	p.N966H	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	966	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGAGGACATTTCGGCGCTGA	0.667																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2896-2898)Aat>Cat		ADAM metallopeptidase with thrombospondin type 1 motif, 7							39.0	43.0	41.0					15																	79059357		2189	4274	6463	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059357T>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2896A>C	15.37:g.79059357T>G	ENSP00000373472:p.Asn966His					ADAMTS7_ENST00000566303.1_5'UTR	p.N966H	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3106	-			966			TSP type-1 4.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2896A>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741564	0.30865	.	.	ENSG00000136378	ENST00000388820	T	0.51325	0.71	4.83	-1.04	0.10068	.	0.852731	0.10604	N	0.655300	T	0.39172	0.1068	N	0.21282	0.65	0.09310	N	1	P	0.41978	0.767	P	0.49637	0.617	T	0.34378	-0.9831	10	0.49607	T	0.09	.	6.235	0.20758	0.0:0.1768:0.4187:0.4045	.	966	Q9UKP4	ATS7_HUMAN	H	966	ENSP00000373472:N966H	ENSP00000373472:N966H	N	-	1	0	ADAMTS7	76846412	0.054000	0.20591	0.002000	0.10522	0.072000	0.16883	2.003000	0.40844	0.181000	0.19994	0.472000	0.43445	AAT		0.667	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		9	32	0	0	0	1	0	9	32				
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685655G>T	ENST00000343414.4	+	1	740	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.K236N(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(706-708)aaG>aaT		olfactory receptor, family 2, subfamily G, member 6							105.0	108.0	107.0					1																	248685655		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685655G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.708G>T	1.37:g.248685655G>T	ENSP00000341291:p.Lys236Asn						p.K236N	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	740	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	236					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.708G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	12.87	2.066492	0.36470	.	.	ENSG00000188558	ENST00000343414	T	0.00374	7.72	3.83	-3.1	0.05315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000297	T	0.01320	0.0043	H	0.97732	4.065	0.25621	N	0.986393	D	0.89917	1.0	D	0.97110	1.0	T	0.04767	-1.0928	10	0.87932	D	0	.	10.5308	0.44975	0.6266:0.0:0.3734:0.0	.	236	Q5TZ20	OR2G6_HUMAN	N	236	ENSP00000341291:K236N	ENSP00000341291:K236N	K	+	3	2	OR2G6	246752278	0.489000	0.26004	0.063000	0.19743	0.393000	0.30537	-0.660000	0.05317	-0.671000	0.05274	0.400000	0.26472	AAG		0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		14	83	1	0	6.31663e-08	1	7.49729e-08	14	83				
KIF27	55582	broad.mit.edu	37	9	86523414	86523414	+	Missense_Mutation	SNP	G	G	A	rs372555424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86523414G>A	ENST00000297814.2	-	3	595	c.452C>T	c.(451-453)aCa>aTa	p.T151I	KIF27_ENST00000413982.1_Missense_Mutation_p.T151I|KIF27_ENST00000334204.2_Missense_Mutation_p.T151I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	151	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTTCATGGATGTCTCCAATTC	0.358																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(451-453)aCa>aTa		kinesin family member 27		G	ILE/THR	0,4406		0,0,2203	128.0	128.0	128.0		452	5.5	1.0	9		128	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIF27	NM_017576.1	89	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	151/1402	86523414	2,13004	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86523414G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.452C>T	9.37:g.86523414G>A	ENSP00000297814:p.Thr151Ile					KIF27_ENST00000413982.1_Missense_Mutation_p.T151I|KIF27_ENST00000334204.2_Missense_Mutation_p.T151I	p.T151I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			3	595	-			151			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.452C>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371165	0.82573	0.0	2.33E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.73152	-0.72;-0.72;-0.72	5.46	5.46	0.80206	Kinesin, motor domain (4);	0.000000	0.56097	D	0.000027	T	0.81039	0.4740	L	0.47190	1.495	0.45227	D	0.998238	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.952;0.995;0.994	T	0.81382	-0.0958	10	0.56958	D	0.05	.	19.2884	0.94089	0.0:0.0:1.0:0.0	.	151;151;151	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	I	151	ENSP00000297814:T151I;ENSP00000401688:T151I;ENSP00000333928:T151I	ENSP00000297814:T151I	T	-	2	0	KIF27	85713234	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.588000	0.74076	2.573000	0.86826	0.491000	0.48974	ACA		0.358	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		52	79	0	0	0	1	0	52	79				
LAMB1	3912	broad.mit.edu	37	7	107618547	107618547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107618547G>T	ENST00000222399.6	-	9	1175	c.945C>A	c.(943-945)ttC>ttA	p.F315L	LAMB1_ENST00000393561.1_Missense_Mutation_p.F339L|LAMB1_ENST00000393560.1_Missense_Mutation_p.F315L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	315	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AATCATGGTAGAAATCCATGC	0.433																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1015-1017)ttC>ttA		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						144.0	138.0	140.0					7																	107618547		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107618547G>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.945C>A	7.37:g.107618547G>T	ENSP00000222399:p.Phe315Leu					LAMB1_ENST00000393560.1_Missense_Mutation_p.F315L|LAMB1_ENST00000222399.6_Missense_Mutation_p.F315L	p.F339L			P07942	LAMB1_HUMAN			7	1201	-			315			Laminin EGF-like 2.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1017C>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139306	0.94560	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.60797	0.16;0.16;0.16	5.27	4.38	0.52667	EGF-like, laminin (4);	.	.	.	.	T	0.67258	0.2874	L	0.39467	1.215	0.80722	D	1	P;P;D	0.89917	0.926;0.924;1.0	P;P;D	0.91635	0.857;0.649;0.999	T	0.68819	-0.5308	9	0.52906	T	0.07	.	13.7314	0.62789	0.0736:0.0:0.9264:0.0	.	315;315;339	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	L	339;315;315	ENSP00000377191:F339L;ENSP00000222399:F315L;ENSP00000377190:F315L	ENSP00000222399:F315L	F	-	3	2	LAMB1	107405783	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.102000	0.50291	1.451000	0.47736	0.462000	0.41574	TTC		0.433	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		6	157	1	0	0.00116845	1	0.00124821	6	157				
CACNA1F	778	broad.mit.edu	37	X	49063466	49063466	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49063466C>T	ENST00000376265.2	-	44	5325	c.5264G>A	c.(5263-5265)cGg>cAg	p.R1755Q	CACNA1F_ENST00000323022.5_Splice_Site_p.R1744Q|CACNA1F_ENST00000376251.1_Splice_Site_p.R1690Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1755					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCAGTGTACCGATCAGGGAC	0.567																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.e44+1		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						185.0	120.0	142.0					X																	49063466		2202	4300	6502	SO:0001630	splice_region_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063466C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5264+1G>A	X.37:g.49063466C>T						CACNA1F_ENST00000376251.1_Splice_Site_p.R1690_splice|CACNA1F_ENST00000323022.5_Splice_Site_p.R1744_splice	p.R1755_splice	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			44	5325	-			1755					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	SNP	ENST00000376265.2	37	c.5264_splice	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	7.685	0.689859	0.14973	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96300	-3.97;-3.9;-3.89	4.6	0.0261	0.14148	.	3.165220	0.01025	N	0.004049	D	0.91153	0.7214	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.81538	-0.0887	9	.	.	.	.	3.0864	0.06279	0.2185:0.364:0.0:0.4175	.	1744;1755	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	1690;1744;1755	ENSP00000365427:R1690Q;ENSP00000321618:R1744Q;ENSP00000365441:R1755Q	.	R	-	2	0	CACNA1F	48950410	0.002000	0.14202	0.000000	0.03702	0.123000	0.20343	-0.162000	0.10012	-0.031000	0.13781	0.529000	0.55759	CGG		0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	Missense_Mutation	6	13	0	0	0	1	0	6	13				
PURA	5813	broad.mit.edu	37	5	139494544	139494544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139494544C>T	ENST00000331327.3	+	1	837	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	260					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCGTGCCCTACAAGGT	0.547																																						ENST00000331327.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(778-780)Ccc>Tcc		purine-rich element binding protein A							100.0	94.0	96.0					5																	139494544		2203	4300	6503	SO:0001583	missense	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494544C>T	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.778C>T	5.37:g.139494544C>T	ENSP00000332706:p.Pro260Ser						p.P260S	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	837	+			260						Missense_Mutation	SNP	ENST00000331327.3	37	c.778C>T	CCDS4220.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405764	0.62288	.	.	ENSG00000185129	ENST00000331327	T	0.56444	0.46	5.19	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80587	-0.1316	10	0.87932	D	0	-6.952	13.8896	0.63731	0.0:0.9271:0.0:0.0729	.	260	Q00577	PURA_HUMAN	S	260	ENSP00000332706:P260S	ENSP00000332706:P260S	P	+	1	0	PURA	139474728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	1.446000	0.47643	0.650000	0.86243	CCC		0.547	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		12	35	0	0	0	1	0	12	35				
AP2A1	160	broad.mit.edu	37	19	50309432	50309432	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309432C>T	ENST00000359032.5	+	23	2778	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	AC006942.4_ENST00000600669.1_RNA|AP2A1_ENST00000354293.5_Silent_p.F904F	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	926				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTGAGAACTTCGTGGGGGCGG	0.642																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(2710-2712)ttC>ttT		adaptor-related protein complex 2, alpha 1 subunit							14.0	15.0	15.0					19																	50309432		1893	4098	5991	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50309432C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2778C>T	19.37:g.50309432C>T						AP2A1_ENST00000359032.5_Silent_p.F926F	p.F904F	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	22	2878	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	926					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.2712C>T	CCDS46148.1																																																																																				0.642	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			5	6	0	0	0	1	0	5	6				
CCDC172	374355	broad.mit.edu	37	10	118100340	118100340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118100340G>T	ENST00000333254.3	+	4	511	c.260G>T	c.(259-261)aGg>aTg	p.R87M	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	87																	ACAAACCATAGGAATATGCTT	0.284																																						ENST00000333254.3																			0											c.(259-261)aGg>aTg		coiled-coil domain containing 172							56.0	59.0	58.0					10																	118100340		2203	4287	6490	SO:0001583	missense	374355							g.chr10:118100340G>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.260G>T	10.37:g.118100340G>T	ENSP00000329860:p.Arg87Met					CCDC172_ENST00000497093.1_3'UTR	p.R87M	NM_198515.2	NP_940917.1					4	511	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.260G>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944629	0.34283	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.95	5.04	0.67666	.	0.194430	0.44688	D	0.000424	T	0.62490	0.2432	M	0.63428	1.95	0.23920	N	0.99647	D	0.89917	1.0	D	0.69479	0.964	T	0.56408	-0.7984	9	0.87932	D	0	-21.6696	11.2381	0.48953	0.1373:0.0:0.8627:0.0	.	87	P0C7W6	CJ096_HUMAN	M	87	.	ENSP00000329860:R87M	R	+	2	0	C10orf96	118090330	0.986000	0.35501	0.920000	0.36463	0.520000	0.34377	1.630000	0.37081	2.821000	0.97095	0.650000	0.86243	AGG		0.284	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		16	41	1	0	1.78486e-19	1	2.33646e-19	16	41				
USH2A	7399	broad.mit.edu	37	1	215956253	215956253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215956253G>A	ENST00000307340.3	-	53	10798	c.10412C>T	c.(10411-10413)aCa>aTa	p.T3471I	USH2A_ENST00000366943.2_Missense_Mutation_p.T3471I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3471	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACTCATATGTCATGTAGGG	0.408										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10411-10413)aCa>aTa		Usher syndrome 2A (autosomal recessive, mild)							57.0	53.0	54.0					1																	215956253		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215956253G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10412C>T	1.37:g.215956253G>A	ENSP00000305941:p.Thr3471Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T3471I	p.T3471I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	53	10798	-			3471			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10412C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	8.726	0.915416	0.17907	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56611	0.45;0.45	5.32	-6.95	0.01628	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.479210	0.05050	N	0.477957	T	0.44726	0.1307	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43734	-0.9373	10	0.45353	T	0.12	.	9.1536	0.36978	0.5478:0.0:0.3602:0.092	.	3471	O75445	USH2A_HUMAN	I	3471	ENSP00000305941:T3471I;ENSP00000355910:T3471I	ENSP00000305941:T3471I	T	-	2	0	USH2A	214022876	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	-0.085000	0.11250	-1.162000	0.02797	-1.110000	0.02074	ACA		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		24	28	0	0	0	1	0	24	28				
PITPNM1	9600	broad.mit.edu	37	11	67261829	67261829	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67261829G>A	ENST00000534749.1	-	18	2933	c.2745C>T	c.(2743-2745)aaC>aaT	p.N915N	PITPNM1_ENST00000356404.3_Silent_p.N915N|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.N914N			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	915					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGAAGTGACGTTCTAGAGGG	0.682																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2743-2745)aaC>aaT		phosphatidylinositol transfer protein, membrane-associated 1							18.0	19.0	18.0					11																	67261829		2197	4290	6487	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67261829G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2745C>T	11.37:g.67261829G>A						PITPNM1_ENST00000534749.1_Silent_p.N915N|PITPNM1_ENST00000436757.2_Silent_p.N914N|PITPNM1_ENST00000526450.1_5'UTR	p.N915N	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			19	2970	-			915					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2745C>T	CCDS31620.1																																																																																				0.682	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		10	7	0	0	0	1	0	10	7				
ZNF609	23060	broad.mit.edu	37	15	64792015	64792015	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64792015G>T	ENST00000326648.3	+	1	525	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	ZNF609_ENST00000416172.1_Missense_Mutation_p.G133C	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	133						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAATGCTGGAGGCCTGGTTGC	0.567																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(397-399)Ggc>Tgc		zinc finger protein 609							46.0	50.0	48.0					15																	64792015		2203	4300	6503	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64792015G>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.397G>T	15.37:g.64792015G>T	ENSP00000316527:p.Gly133Cys					ZNF609_ENST00000416172.1_Missense_Mutation_p.G133C	p.G133C	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			1	525	+			133					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.397G>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262386	0.39995	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.46063	0.88	5.5	2.22	0.28083	.	0.573155	0.19631	N	0.109662	T	0.33556	0.0867	L	0.38175	1.15	0.34371	D	0.692067	P;P	0.43169	0.739;0.8	B;B	0.42555	0.391;0.303	T	0.46105	-0.9215	10	0.72032	D	0.01	-21.4039	8.5352	0.33360	0.2977:0.0:0.7023:0.0	.	133;133	E7ERY8;O15014	.;ZN609_HUMAN	C	133	ENSP00000316527:G133C	ENSP00000316527:G133C	G	+	1	0	ZNF609	62579068	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	1.381000	0.34362	0.228000	0.21019	0.651000	0.88453	GGC		0.567	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		3	31	1	0	0.115264	1	0.117355	3	31				
TKT	7086	broad.mit.edu	37	3	53262328	53262328	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53262328A>G	ENST00000462138.1	-	11	1531	c.1443T>C	c.(1441-1443)taT>taC	p.Y481Y	TKT_ENST00000423525.2_Silent_p.Y481Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Silent_p.Y434Y|TKT_ENST00000423516.1_Silent_p.Y489Y			P29401	TKT_HUMAN	transketolase	481					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CATTGTTGTTATAGATGATGG	0.557																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1441-1443)taT>taC		transketolase	Thiamine(DB00152)						158.0	149.0	152.0					3																	53262328		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53262328A>G		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1443T>C	3.37:g.53262328A>G						TKT_ENST00000423525.2_Silent_p.Y481Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Silent_p.Y434Y|TKT_ENST00000423516.1_Silent_p.Y489Y	p.Y481Y			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	11	1531	-		Prostate(884;0.0959)	481					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.1443T>C	CCDS2871.1																																																																																				0.557	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			20	28	0	0	0	1	0	20	28				
AHNAK2	113146	broad.mit.edu	37	14	105409750	105409750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409750G>A	ENST00000333244.5	-	7	12157	c.12038C>T	c.(12037-12039)gCc>gTc	p.A4013V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4013						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCAGTGGCCTTGAGGTC	0.662																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12037-12039)gCc>gTc		AHNAK nucleoprotein 2							124.0	129.0	127.0					14																	105409750		1998	4163	6161	SO:0001583	missense	113146					nucleus		g.chr14:105409750G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12038C>T	14.37:g.105409750G>A	ENSP00000353114:p.Ala4013Val					AHNAK2_ENST00000557457.1_Intron	p.A4013V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12157	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4013					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12038C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	9.499	1.102620	0.20632	.	.	ENSG00000185567	ENST00000333244	T	0.01725	4.67	3.67	1.75	0.24633	.	.	.	.	.	T	0.01765	0.0056	N	0.21508	0.67	0.09310	N	1	P	0.40602	0.723	P	0.44696	0.458	T	0.50030	-0.8875	9	0.26408	T	0.33	.	4.2171	0.10540	0.2268:0.3774:0.3958:0.0	.	4013	Q8IVF2	AHNK2_HUMAN	V	4013	ENSP00000353114:A4013V	ENSP00000353114:A4013V	A	-	2	0	AHNAK2	104480795	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.756000	0.04777	0.237000	0.21200	0.306000	0.20318	GCC		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		71	83	0	0	0	1	0	71	83				
ERICH3	127254	broad.mit.edu	37	1	75039011	75039011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039011C>T	ENST00000326665.5	-	14	2601	c.2383G>A	c.(2383-2385)Gca>Aca	p.A795T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		795	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACAGTGCTGCCTCCCCTTTT	0.507																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2383-2385)Gca>Aca		chromosome 1 open reading frame 173							104.0	103.0	103.0					1																	75039011		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75039011C>T																												ENST00000326665.5:c.2383G>A	1.37:g.75039011C>T	ENSP00000322609:p.Ala795Thr					C1orf173_ENST00000433746.2_5'UTR	p.A795T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2601	-			795			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2383G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509817	0.64522	.	.	ENSG00000178965	ENST00000326665	T	0.14893	2.47	5.24	4.33	0.51752	.	.	.	.	.	T	0.04998	0.0134	L	0.36672	1.1	0.28057	N	0.93312	B	0.27351	0.176	B	0.21917	0.037	T	0.30851	-0.9964	9	0.17832	T	0.49	-4.0823	13.1425	0.59442	0.0:0.9209:0.0:0.0791	.	795	Q5RHP9	CA173_HUMAN	T	795	ENSP00000322609:A795T	ENSP00000322609:A795T	A	-	1	0	C1orf173	74811599	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.128000	0.15810	1.356000	0.45884	0.561000	0.74099	GCA		0.507	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			5	97	0	0	0	1	0	5	97				
LPAR3	23566	broad.mit.edu	37	1	85331180	85331180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85331180C>T	ENST00000440886.1	-	1	662	c.624G>A	c.(622-624)cgG>cgA	p.R208R	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Silent_p.R208R			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	208					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACACGTAGATCCGCAGGTACA	0.532																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(622-624)cgG>cgA		lysophosphatidic acid receptor 3							125.0	106.0	112.0					1																	85331180		2203	4300	6503	SO:0001819	synonymous_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331180C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.624G>A	1.37:g.85331180C>T						LPAR3_ENST00000370611.3_Silent_p.R208R|LPAR3_ENST00000491034.1_5'UTR	p.R208R			Q9UBY5	LPAR3_HUMAN			1	662	-			208					A0AVA3	Silent	SNP	ENST00000440886.1	37	c.624G>A	CCDS700.1																																																																																				0.532	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		18	49	0	0	0	1	0	18	49				
SLC24A2	25769	broad.mit.edu	37	9	19550257	19550257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19550257C>T	ENST00000341998.2	-	7	1418	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E436K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	453					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCCTCCTCCTCATCAGCGGTC	0.458																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1357-1359)Gag>Aag		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							102.0	103.0	103.0					9																	19550257		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19550257C>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1357G>A	9.37:g.19550257C>T	ENSP00000344801:p.Glu453Lys					SLC24A2_ENST00000286344.3_Missense_Mutation_p.E436K	p.E453K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	7	1418	-			453					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1357G>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	9.897	1.205889	0.22205	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.76448	-1.02;-1.02	5.0	4.09	0.47781	.	0.239806	0.41605	D	0.000857	D	0.83119	0.5185	M	0.74881	2.28	0.54753	D	0.99998	P;B	0.35959	0.53;0.041	P;B	0.48227	0.571;0.081	T	0.81998	-0.0675	9	.	.	.	.	14.5641	0.68162	0.0:0.8522:0.1478:0.0	.	436;453	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	K	453;436	ENSP00000344801:E453K;ENSP00000286344:E436K	.	E	-	1	0	SLC24A2	19540257	0.997000	0.39634	0.007000	0.13788	0.054000	0.15201	4.280000	0.58959	1.203000	0.43233	-0.175000	0.13238	GAG		0.458	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		45	63	0	0	0	1	0	45	63				
VWA8	23078	broad.mit.edu	37	13	42259287	42259287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42259287C>T	ENST00000379310.3	-	35	4291	c.4223G>A	c.(4222-4224)aGg>aAg	p.R1408K		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1408						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGGAGTCCCCCTTTTCTTCTT	0.398																																						ENST00000379310.3																			0											c.(4222-4224)aGg>aAg		von Willebrand factor A domain containing 8							166.0	147.0	153.0					13																	42259287		1851	4087	5938	SO:0001583	missense	23078							g.chr13:42259287C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4223G>A	13.37:g.42259287C>T	ENSP00000368612:p.Arg1408Lys						p.R1408K	NM_015058.1	NP_055873.1					35	4291	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4223G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.212667	0.01555	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09073	3.02	5.16	-6.96	0.01622	.	0.994560	0.08168	N	0.987477	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.47368	-0.9123	10	0.21540	T	0.41	.	9.9808	0.41813	0.0:0.2914:0.4108:0.2978	.	1408	A3KMH1	K0564_HUMAN	K	1312;1408	ENSP00000368612:R1408K	ENSP00000251030:R1312K	R	-	2	0	KIAA0564	41157287	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.215000	0.09279	-1.398000	0.02066	-0.965000	0.02619	AGG		0.398	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		30	34	0	0	0	1	0	30	34				
TRAF3IP2	10758	broad.mit.edu	37	6	111887723	111887723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111887723T>C	ENST00000340026.6	-	8	2021	c.1427A>G	c.(1426-1428)aAa>aGa	p.K476R	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.K466R|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.K55R|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.K11R|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.K467R|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	476	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CACGTCCTGTTTGTATTTGGG	0.488																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1399-1401)aAa>aGa		TRAF3 interacting protein 2							275.0	200.0	225.0					6																	111887723		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111887723T>C	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1427A>G	6.37:g.111887723T>C	ENSP00000345984:p.Lys476Arg					TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.K476R|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.K55R|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.K466R|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.K11R|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA	p.K467R	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	7	1878	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	476			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.1400A>G		.	.	.	.	.	.	.	.	.	.	T	21.4	4.147051	0.77888	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831;ENST00000368735	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.42245	1.32	0.52099	D	0.999949	D	0.89917	1.0	D	0.87578	0.998	T	0.09862	-1.0655	10	0.36615	T	0.2	-7.3292	15.3027	0.73966	0.0:0.0:0.0:1.0	.	466	Q7Z6Q1	.	R	476;467;55;476;466;11	ENSP00000357750:K467R;ENSP00000376339:K55R;ENSP00000345984:K476R;ENSP00000352889:K466R;ENSP00000357724:K11R	ENSP00000345984:K476R	K	-	2	0	TRAF3IP2	111994416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.875000	0.75551	2.026000	0.59711	0.459000	0.35465	AAA		0.488	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			43	68	0	0	0	1	0	43	68				
TTBK2	146057	broad.mit.edu	37	15	43075630	43075630	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43075630A>G	ENST00000267890.6	-	11	1292	c.1184T>C	c.(1183-1185)cTt>cCt	p.L395P	TTBK2_ENST00000567840.1_Missense_Mutation_p.L395P|TTBK2_ENST00000567274.1_Missense_Mutation_p.L360P	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	395					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		acaaattccAAGCTTTATCTT	0.438																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1183-1185)cTt>cCt		tau tubulin kinase 2							215.0	217.0	216.0					15																	43075630		1847	4099	5946	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43075630A>G	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1184T>C	15.37:g.43075630A>G	ENSP00000267890:p.Leu395Pro					TTBK2_ENST00000567840.1_Missense_Mutation_p.L395P|TTBK2_ENST00000567274.1_Missense_Mutation_p.L360P	p.L395P	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	11	1292	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	395					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1184T>C	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.006737	0.35415	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.40756	1.02	5.56	5.56	0.83823	.	0.333667	0.30338	N	0.009846	T	0.23249	0.0562	N	0.02539	-0.55	0.80722	D	1	B;B;B;B	0.16166	0.0;0.016;0.0;0.009	B;B;B;B	0.24394	0.0;0.053;0.001;0.013	T	0.09530	-1.0670	10	0.44086	T	0.13	.	15.7095	0.77615	1.0:0.0:0.0:0.0	.	800;326;395;395	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	P	395;325;800	ENSP00000267890:L395P	ENSP00000263802:L800P	L	-	2	0	TTBK2	40862922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.536000	0.45693	2.101000	0.63845	0.533000	0.62120	CTT		0.438	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		20	327	0	0	0	1	0	20	327				
ARHGAP26	23092	broad.mit.edu	37	5	142281518	142281518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142281518G>T	ENST00000274498.4	+	7	994	c.616G>T	c.(616-618)Gga>Tga	p.G206*	ARHGAP26_ENST00000378004.3_Nonsense_Mutation_p.G206*	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	206					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCTGCAAGGACTCTTCAC	0.458																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(616-618)Gga>Tga		Rho GTPase activating protein 26							155.0	130.0	139.0					5																	142281518		2203	4300	6503	SO:0001587	stop_gained	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142281518G>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.616G>T	5.37:g.142281518G>T	ENSP00000274498:p.Gly206*					ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.G206*	p.G206*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	971	+		all_hematologic(541;0.0416)	206					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Nonsense_Mutation	SNP	ENST00000274498.4	37	c.616G>T	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	40	7.956638	0.98580	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6157	0.95633	0.0:0.0:1.0:0.0	.	.	.	.	X	206	.	ENSP00000274498:G206X	G	+	1	0	ARHGAP26	142261702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.337000	0.72958	2.739000	0.93911	0.563000	0.77884	GGA		0.458	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		7	59	1	0	8.12818e-05	1	8.99451e-05	7	59				
TTN	7273	broad.mit.edu	37	2	179467258	179467258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179467258G>T	ENST00000591111.1	-	233	50172	c.49948C>A	c.(49948-49950)Cta>Ata	p.L16650I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9226I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9351I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15723I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L18291I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9418I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16650	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCATCCTAGTGAGATGCTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54871-54873)Cta>Ata		titin							75.0	69.0	71.0					2																	179467258		1872	4089	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179467258G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49948C>A	2.37:g.179467258G>T	ENSP00000465570:p.Leu16650Ile					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9226I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15723I|TTN_ENST00000359218.5_Missense_Mutation_p.L9351I|TTN_ENST00000342175.6_Missense_Mutation_p.L9418I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16650I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.L18291I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		283	55095	-			16650			Fibronectin type-III 32.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54871C>A		.	.	.	.	.	.	.	.	.	.	G	12.74	2.029477	0.35797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.81	4.02	0.46733	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68970	0.3059	M	0.67625	2.065	0.51233	D	0.99991	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.71083	-0.4695	9	0.87932	D	0	.	12.4117	0.55471	0.1358:0.0:0.8642:0.0	.	9226;9351;9418;16650	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15723;9226;9418;9351;9226	ENSP00000343764:L15723I;ENSP00000434586:L9226I;ENSP00000340554:L9418I;ENSP00000352154:L9351I	ENSP00000340554:L9418I	L	-	1	2	TTN	179175503	1.000000	0.71417	0.743000	0.31040	0.994000	0.84299	4.871000	0.63042	0.815000	0.34398	-0.150000	0.13652	CTA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	9	1	0	0.00198382	1	0.00210581	7	9				
PPP6R2	9701	broad.mit.edu	37	22	50857842	50857842	+	Missense_Mutation	SNP	G	G	A	rs137973527		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50857842G>A	ENST00000216061.5	+	9	1166	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	PPP6R2_ENST00000395741.3_Missense_Mutation_p.V267I|PPP6R2_ENST00000359139.3_Missense_Mutation_p.V266I|PPP6R2_ENST00000395744.3_Missense_Mutation_p.V266I			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	266						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAGCTGCCTCGTCAGTGGGAC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19549	0.0		0.001	False		,,,				2504	0.0					ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(796-798)Gtc>Atc		protein phosphatase 6, regulatory subunit 2		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	121.0	96.0	105.0		796,799,796,796	5.6	0.3	22	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	PPP6R2	NM_001242898.1,NM_001242899.1,NM_001242900.1,NM_014678.4	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	266/960,267/934,266/928,266/933	50857842	1,13005	2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50857842G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.796G>A	22.37:g.50857842G>A	ENSP00000216061:p.Val266Ile					PPP6R2_ENST00000395744.3_Missense_Mutation_p.V266I|PPP6R2_ENST00000395741.3_Missense_Mutation_p.V267I|PPP6R2_ENST00000216061.5_Missense_Mutation_p.V266I	p.V266I	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			8	1190	+			266					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.796G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.40	3.819822	0.71028	0.0	1.16E-4	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.35973	1.33;1.63;1.33;1.28	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D	0.65815	0.985;0.995;0.984;0.994;0.984	P;P;P;P;P	0.62740	0.685;0.906;0.875;0.848;0.837	T	0.55515	-0.8129	10	0.49607	T	0.09	-44.9459	17.1792	0.86850	0.0:0.0:1.0:0.0	.	266;266;267;266;266	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	I	266;267;266;266	ENSP00000352051:V266I;ENSP00000379090:V267I;ENSP00000379093:V266I;ENSP00000216061:V266I	ENSP00000216061:V266I	V	+	1	0	PPP6R2	49204708	1.000000	0.71417	0.317000	0.25265	0.637000	0.38172	7.700000	0.84556	2.657000	0.90304	0.549000	0.68633	GTC		0.562	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		12	18	0	0	0	1	0	12	18				
SPATA5	166378	broad.mit.edu	37	4	123978389	123978389	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123978389C>T	ENST00000274008.4	+	13	2228	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	720					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGCAGTGGCGCCTTCCATT	0.378																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2158-2160)gCg>gTg		spermatogenesis associated 5							105.0	106.0	106.0					4																	123978389		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123978389C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2159C>T	4.37:g.123978389C>T	ENSP00000274008:p.Ala720Val					SPATA5_ENST00000422835.2_3'UTR	p.A720V	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			13	2228	+			720					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.2159C>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593478	0.66219	.	.	ENSG00000145375	ENST00000274008	D	0.95103	-3.61	4.87	4.87	0.63330	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.175725	0.48767	D	0.000162	D	0.96476	0.8850	M	0.82193	2.58	0.43598	D	0.995951	D	0.76494	0.999	P	0.54100	0.742	D	0.97034	0.9752	10	0.87932	D	0	-21.1128	18.5783	0.91163	0.0:1.0:0.0:0.0	.	720	Q8NB90	SPAT5_HUMAN	V	720	ENSP00000274008:A720V	ENSP00000274008:A720V	A	+	2	0	SPATA5	124197839	1.000000	0.71417	0.992000	0.48379	0.764000	0.43329	5.810000	0.69179	2.695000	0.91970	0.655000	0.94253	GCG		0.378	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		22	46	0	0	0	1	0	22	46				
ART1	417	broad.mit.edu	37	11	3681427	3681427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681427G>A	ENST00000250693.1	+	3	779	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	226					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCTGCCTTGGGGCCCCTATCA	0.597																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(676-678)ggG>ggA		ADP-ribosyltransferase 1	Becaplermin(DB00102)						45.0	44.0	44.0					11																	3681427		2201	4298	6499	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681427G>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.678G>A	11.37:g.3681427G>A							p.G226G	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	779	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	226					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.678G>A	CCDS7744.1																																																																																				0.597	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		19	16	0	0	0	1	0	19	16				
CORIN	10699	broad.mit.edu	37	4	47663803	47663803	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47663803C>A	ENST00000273857.4	-	12	1659	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	CORIN_ENST00000508498.1_Missense_Mutation_p.D415Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D517Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D517Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D487Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	554	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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						CAATCTGTGTCTTCAGGCCAC	0.398																																						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.(1660-1662)Gac>Tac		corin, serine peptidase							97.0	94.0	95.0					4																	47663803		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.chr4:47663803C>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.1660G>T	4.37:g.47663803C>A	ENSP00000273857:p.Asp554Tyr					CORIN_ENST00000508498.1_Missense_Mutation_p.D415Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D517Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D487Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D517Y	p.D554Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			12	1659	-			554			FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1660G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659802	0.47572	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.9	5.9	0.94986	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	L	0.37750	1.13	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.983;0.994;1.0	T	0.72921	-0.4145	10	0.02654	T	1	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	517;517;487;554	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	Y	554;415;487;517;517	ENSP00000273857:D554Y;ENSP00000425597:D415Y;ENSP00000424212:D487Y;ENSP00000425401:D517Y;ENSP00000423216:D517Y	ENSP00000273857:D554Y	D	-	1	0	CORIN	47358560	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.068000	0.76748	2.802000	0.96397	0.650000	0.86243	GAC		0.398	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	52	1	0	0.00909568	1	0.00947522	4	52				
CDC42BPG	55561	broad.mit.edu	37	11	64594799	64594799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594799G>A	ENST00000342711.5	-	33	4221	c.4222C>T	c.(4222-4224)Cgc>Tgc	p.R1408C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AAGAAGCGGCGCTTGCTCTTG	0.667																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4222-4224)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							75.0	86.0	82.0					11																	64594799		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594799G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4222C>T	11.37:g.64594799G>A	ENSP00000345133:p.Arg1408Cys						p.R1408C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			33	4221	-			1408						Missense_Mutation	SNP	ENST00000342711.5	37	c.4222C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151293	0.78001	.	.	ENSG00000171219	ENST00000342711	T	0.79653	-1.29	4.82	4.82	0.62117	.	0.000000	0.45126	D	0.000399	D	0.89097	0.6618	M	0.82323	2.585	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.90062	0.4157	10	0.87932	D	0	.	10.9826	0.47504	0.0:0.0:0.8136:0.1864	.	1408	Q6DT37	MRCKG_HUMAN	C	1408	ENSP00000345133:R1408C	ENSP00000345133:R1408C	R	-	1	0	CDC42BPG	64351375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.260000	0.58835	2.409000	0.81822	0.561000	0.74099	CGC		0.667	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		54	42	0	0	0	1	0	54	42				
DEFB126	81623	broad.mit.edu	37	20	126110	126110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:126110G>A	ENST00000382398.3	+	2	373	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	38					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAAGAAGTGCAAACCTGAA	0.383																																						ENST00000382398.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(112-114)tGc>tAc		defensin, beta 126							166.0	153.0	157.0					20																	126110		2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126110G>A		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.113G>A	20.37:g.126110G>A	ENSP00000371835:p.Cys38Tyr					DEFB126_ENST00000542572.1_3'UTR	p.C38Y	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	373	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	38					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.113G>A	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547235	0.45383	.	.	ENSG00000125788	ENST00000382398	D	0.89681	-2.55	3.74	3.74	0.42951	.	0.000000	0.51477	D	0.000095	D	0.88815	0.6539	N	0.19112	0.55	0.25909	N	0.983256	D	0.89917	1.0	D	0.97110	1.0	T	0.81059	-0.1104	10	0.87932	D	0	-18.2867	11.3542	0.49607	0.0:0.0:1.0:0.0	.	38	Q9BYW3	DB126_HUMAN	Y	38	ENSP00000371835:C38Y	ENSP00000371835:C38Y	C	+	2	0	DEFB126	74110	0.954000	0.32549	0.293000	0.24932	0.006000	0.05464	3.056000	0.49923	2.371000	0.80710	0.561000	0.74099	TGC		0.383	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		38	32	0	0	0	1	0	38	32				
ZNF274	10782	broad.mit.edu	37	19	58724255	58724255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58724255A>G	ENST00000326804.4	+	9	2164	c.1705A>G	c.(1705-1707)Agg>Ggg	p.R569G	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.R537G|ZNF274_ENST00000424679.2_Missense_Mutation_p.R464G	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAGTGTGGGAGGACCTTCAA	0.522																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(1705-1707)Agg>Ggg		zinc finger protein 274							79.0	86.0	84.0					19																	58724255		2104	4249	6353	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58724255A>G	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1705A>G	19.37:g.58724255A>G	ENSP00000321209:p.Arg569Gly					ZNF274_ENST00000424679.2_Missense_Mutation_p.R464G|ZNF274_ENST00000345813.3_Missense_Mutation_p.R537G|ZNF274_ENST00000597818.1_3'UTR	p.R569G	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	9	2164	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	570					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1705A>G		.	.	.	.	.	.	.	.	.	.	A	17.58	3.424647	0.62733	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.19532	2.14;2.14;2.14	5.27	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001564	T	0.37785	0.1016	.	.	.	0.31425	N	0.673858	D;D;D	0.57571	0.976;0.976;0.98	P;P;P	0.58130	0.743;0.743;0.833	T	0.49925	-0.8887	9	0.87932	D	0	-15.4502	12.1678	0.54139	0.4943:0.5057:0.0:0.0	.	465;538;570	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	G	569;537;464	ENSP00000321209:R569G;ENSP00000321187:R537G;ENSP00000409872:R464G	ENSP00000321209:R569G	R	+	1	2	ZNF274	63416067	0.152000	0.22762	0.750000	0.31169	0.893000	0.52053	2.191000	0.42640	0.115000	0.18071	0.533000	0.62120	AGG		0.522	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		7	54	0	0	0	1	0	7	54				
WIF1	11197	broad.mit.edu	37	12	65462579	65462579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65462579G>T	ENST00000286574.4	-	4	877	c.503C>A	c.(502-504)cCt>cAt	p.P168H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	168	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGCATTTTGAGGTGTTTGGAG	0.413			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(502-504)cCt>cAt		WNT inhibitory factor 1							193.0	178.0	183.0					12																	65462579		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462579G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.503C>A	12.37:g.65462579G>T	ENSP00000286574:p.Pro168His						p.P168H	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	877	-			168			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.503C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894510	0.72639	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.42900	0.96;0.96	5.51	5.51	0.81932	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56655	-0.7943	9	.	.	.	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	168	Q9Y5W5	WIF1_HUMAN	H	168;106	ENSP00000286574:P168H;ENSP00000442063:P106H	.	P	-	2	0	WIF1	63748846	1.000000	0.71417	0.991000	0.47740	0.547000	0.35210	8.158000	0.89649	2.758000	0.94735	0.655000	0.94253	CCT		0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			4	69	1	0	5.9392e-07	1	6.91975e-07	4	69				
ISPD	729920	broad.mit.edu	37	7	16131379	16131379	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16131379T>A	ENST00000407010.2	-	10	1296	c.1297A>T	c.(1297-1299)Att>Ttt	p.I433F	RP11-196O16.1_ENST00000609163.1_lincRNA|ISPD_ENST00000399310.3_Missense_Mutation_p.I383F	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	433					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AATGAAGCAATAATGATAGCA	0.328										Multiple Myeloma(15;0.18)																												ENST00000407010.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1297-1299)Att>Ttt		isoprenoid synthase domain containing							83.0	72.0	75.0					7																	16131379		1853	4086	5939	SO:0001583	missense	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16131379T>A	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1297A>T	7.37:g.16131379T>A	ENSP00000385478:p.Ile433Phe	Multiple Myeloma(15;0.18)				ISPD_ENST00000399310.3_Missense_Mutation_p.I383F	p.I433F	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN			10	1296	-			433					A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37	c.1297A>T		.	.	.	.	.	.	.	.	.	.	T	19.07	3.755683	0.69648	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.88975	-2.4;-2.45	5.51	5.51	0.81932	.	.	.	.	.	D	0.88658	0.6496	N	0.19112	0.55	0.46981	D	0.999278	D	0.71674	0.998	D	0.63488	0.915	D	0.90050	0.4148	9	0.87932	D	0	0.4869	12.0055	0.53257	0.0:0.0:0.0:1.0	.	433	A4D126	ISPD_HUMAN	F	433;383	ENSP00000385478:I433F;ENSP00000382249:I383F	ENSP00000382249:I383F	I	-	1	0	ISPD	16097904	1.000000	0.71417	0.997000	0.53966	0.736000	0.42039	2.755000	0.47540	2.097000	0.63578	0.482000	0.46254	ATT		0.328	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		5	0	0	0	0	1	0	5	0				
ZNF782	158431	broad.mit.edu	37	9	99581760	99581760	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581760G>T	ENST00000481138.1	-	6	1206	c.545C>A	c.(544-546)aCt>aAt	p.T182N	ZNF782_ENST00000535338.1_Missense_Mutation_p.T50N|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTTGAGTGTTAGTTCT	0.398																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(544-546)aCt>aAt		zinc finger protein 782							74.0	73.0	74.0					9																	99581760		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581760G>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.545C>A	9.37:g.99581760G>T	ENSP00000419397:p.Thr182Asn					ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_Missense_Mutation_p.T50N	p.T182N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1206	-		Acute lymphoblastic leukemia(62;0.0527)	182					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.545C>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.703443|1.703443	0.30232|0.30232	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338;ENST00000478850	.|T;T;T	.|0.09350	.|3.37;2.99;5.53	3.38|3.38	-5.69|-5.69	0.02428|0.02428	.|.	.|.	.|.	.|.	.|.	T|T	0.09113|0.09113	0.0225|0.0225	M|M	0.65677|0.65677	2.01|2.01	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.15719	.|0.014	.|B	.|0.14578	.|0.011	T|T	0.41752|0.41752	-0.9491|-0.9491	5|9	.|0.51188	.|T	.|0.08	.|.	0.7037|0.7037	0.00912|0.00912	0.3557:0.1186:0.2852:0.2405|0.3557:0.1186:0.2852:0.2405	.|.	.|182	.|Q6ZMW2	.|ZN782_HUMAN	Q|N	170|182;50;182	.|ENSP00000419397:T182N;ENSP00000440624:T50N;ENSP00000417577:T182N	.|ENSP00000417577:T182N	H|T	-|-	3|2	2|0	ZNF782|ZNF782	98621581|98621581	0.031000|0.031000	0.19500|0.19500	0.000000|0.000000	0.03702|0.03702	0.196000|0.196000	0.23810|0.23810	-0.067000|-0.067000	0.11579|0.11579	-1.416000|-1.416000	0.02019|0.02019	-0.355000|-0.355000	0.07637|0.07637	CAC|ACT		0.398	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		7	75	1	0	0.000157383	1	0.00017284	7	75				
ACTR10	55860	broad.mit.edu	37	14	58690342	58690342	+	Missense_Mutation	SNP	C	C	T	rs199506195		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58690342C>T	ENST00000254286.4	+	9	717	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	213					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CCTTAAAGCGCGTACTTGCTT	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		16881	0.001		0.0	False		,,,				2504	0.0					ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(637-639)Cgt>Tgt		actin-related protein 10 homolog (S. cerevisiae)							75.0	76.0	75.0					14																	58690342		2202	4300	6502	SO:0001583	missense	55860					cytoplasm		g.chr14:58690342C>T	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.637C>T	14.37:g.58690342C>T	ENSP00000254286:p.Arg213Cys						p.R213C	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			9	717	+			213					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.637C>T	CCDS32090.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.46	3.128424	0.56721	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94723	-3.5	5.74	5.74	0.90152	.	0.105394	0.64402	D	0.000004	D	0.97439	0.9162	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.63957	0.885;0.92	D	0.97862	1.0281	10	0.87932	D	0	-26.2586	18.9079	0.92471	0.0:1.0:0.0:0.0	.	213;213	Q53H79;Q9NZ32	.;ARP10_HUMAN	C	213	ENSP00000254286:R213C	ENSP00000254286:R213C	R	+	1	0	ACTR10	57760095	0.997000	0.39634	1.000000	0.80357	0.895000	0.52256	3.256000	0.51492	2.702000	0.92279	0.655000	0.94253	CGT		0.338	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			8	14	0	0	0	1	0	8	14				
AHNAK	79026	broad.mit.edu	37	11	62297964	62297964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62297964G>A	ENST00000378024.4	-	5	4199	c.3925C>T	c.(3925-3927)Ccc>Tcc	p.P1309S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1309					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAACTTGGGGCCCTTCAGC	0.527																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3925-3927)Ccc>Tcc		AHNAK nucleoprotein							141.0	150.0	147.0					11																	62297964		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297964G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3925C>T	11.37:g.62297964G>A	ENSP00000367263:p.Pro1309Ser					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P1309S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4199	-		Melanoma(852;0.155)	1309					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3925C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	9.831	1.188523	0.21954	.	.	ENSG00000124942	ENST00000378024	T	0.03152	4.03	4.66	4.66	0.58398	.	0.000000	0.31636	U	0.007315	T	0.22126	0.0533	M	0.93678	3.445	0.43141	D	0.994897	P	0.39862	0.692	P	0.53593	0.73	T	0.05683	-1.0870	10	0.35671	T	0.21	.	17.5636	0.87913	0.0:0.0:1.0:0.0	.	1309	Q09666	AHNK_HUMAN	S	1309	ENSP00000367263:P1309S	ENSP00000367263:P1309S	P	-	1	0	AHNAK	62054540	1.000000	0.71417	0.962000	0.40283	0.448000	0.32197	3.610000	0.54125	2.309000	0.77851	0.645000	0.84053	CCC		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		78	95	0	0	0	1	0	78	95				
GRIN2D	2906	broad.mit.edu	37	19	48918275	48918275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48918275G>A	ENST00000263269.3	+	6	1655	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGTCTGGAACGGCATGATCGG	0.637																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1567-1569)Ggc>Agc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						40.0	40.0	40.0					19																	48918275		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48918275G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1567G>A	19.37:g.48918275G>A	ENSP00000263269:p.Gly523Ser						p.G523S	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	6	1655	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	523						Missense_Mutation	SNP	ENST00000263269.3	37	c.1567G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	35	5.531742	0.96446	.	.	ENSG00000105464	ENST00000263269	T	0.56103	0.48	4.88	4.88	0.63580	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85779	0.1360	10	0.87932	D	0	.	17.1833	0.86860	0.0:0.0:1.0:0.0	.	523	O15399	NMDE4_HUMAN	S	523	ENSP00000263269:G523S	ENSP00000263269:G523S	G	+	1	0	GRIN2D	53610087	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.546000	0.98097	2.445000	0.82738	0.655000	0.94253	GGC		0.637	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			18	28	0	0	0	1	0	18	28				
SPTBN5	51332	broad.mit.edu	37	15	42151146	42151146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42151146C>T	ENST00000320955.6	-	48	8248	c.8021G>A	c.(8020-8022)cGc>cAc	p.R2674H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2674					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGATGGCGGCGGGTCCCGGC	0.706																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(8020-8022)cGc>cAc		spectrin, beta, non-erythrocytic 5							10.0	12.0	11.0					15																	42151146		1892	4092	5984	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42151146C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8021G>A	15.37:g.42151146C>T	ENSP00000317790:p.Arg2674His						p.R2674H	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	48	8248	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2674						Missense_Mutation	SNP	ENST00000320955.6	37	c.8021G>A		.	.	.	.	.	.	.	.	.	.	.	18.32	3.597676	0.66332	.	.	ENSG00000137877	ENST00000320955	T	0.61392	0.11	4.62	0.592	0.17471	.	0.175691	0.37906	N	0.001884	T	0.69187	0.3083	M	0.80422	2.495	0.09310	N	1	D	0.69078	0.997	D	0.63033	0.91	T	0.61143	-0.7122	10	0.72032	D	0.01	.	7.5495	0.27788	0.0:0.6432:0.0:0.3568	.	2674	Q9NRC6	SPTN5_HUMAN	H	2674	ENSP00000317790:R2674H	ENSP00000317790:R2674H	R	-	2	0	SPTBN5	39938438	0.126000	0.22350	0.000000	0.03702	0.211000	0.24417	1.669000	0.37492	-0.158000	0.11040	0.467000	0.42956	CGC		0.706	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	6	0	0	0	1	0	3	6				
CD22	933	broad.mit.edu	37	19	35827141	35827141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35827141G>A	ENST00000085219.5	+	4	681	c.615G>A	c.(613-615)aaG>aaA	p.K205K	CD22_ENST00000594250.1_Silent_p.K205K|CD22_ENST00000536635.2_Silent_p.K205K|CD22_ENST00000544992.2_Silent_p.K205K|CD22_ENST00000419549.2_Silent_p.K33K|CD22_ENST00000270311.6_Silent_p.K85K|CD22_ENST00000341773.6_Silent_p.K205K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	205	Ig-like C2-type 1.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCGAGCTCAAGTTCTCCCCAC	0.557																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(613-615)aaG>aaA		CD22 molecule	OspA lipoprotein(DB00045)						85.0	74.0	78.0					19																	35827141		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35827141G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.615G>A	19.37:g.35827141G>A						CD22_ENST00000544992.2_Silent_p.K205K|CD22_ENST00000419549.2_Silent_p.K33K|CD22_ENST00000270311.6_Silent_p.K85K|CD22_ENST00000341773.6_Silent_p.K205K|CD22_ENST00000536635.2_Silent_p.K205K|CD22_ENST00000594250.1_Silent_p.K205K	p.K205K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	681	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		205			Ig-like C2-type 1.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.615G>A	CCDS12457.1																																																																																				0.557	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		5	43	0	0	0	1	0	5	43				
FGF13	2258	broad.mit.edu	37	X	137939758	137939758	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939758C>T	ENST00000441825.2	-	1	83	c.46G>A	c.(46-48)Gag>Aag	p.E16K	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Missense_Mutation_p.E45K	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGGGGGACTCTTTTTTCTTT	0.483																																						ENST00000441825.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(46-48)Gag>Aag		fibroblast growth factor 13							210.0	178.0	188.0					X																	137939758		1568	3582	5150	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137939758C>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000441825.2:c.46G>A	X.37:g.137939758C>T	ENSP00000409276:p.Glu16Lys					FGF13_ENST00000370603.3_Missense_Mutation_p.E45K|FGF13_ENST00000541469.1_Intron	p.E16K	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN			1	83	-	Acute lymphoblastic leukemia(192;0.000127)		0					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000441825.2	37	c.46G>A	CCDS55511.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000095	0.74818	.	.	ENSG00000129682	ENST00000441825;ENST00000370603;ENST00000436198;ENST00000455663;ENST00000448673;ENST00000421460	T;T;T;D	0.82893	-1.37;-1.45;-1.43;-1.66	6.07	6.07	0.98685	.	1.081660	0.06873	N	0.801137	T	0.72724	0.3496	N	0.08118	0	0.38330	D	0.943778	B	0.23316	0.083	B	0.21360	0.034	T	0.53606	-0.8415	10	0.14252	T	0.57	.	18.3442	0.90315	0.0:1.0:0.0:0.0	.	45	B7Z4M7	.	K	16;45;45;51;45;16	ENSP00000409276:E16K;ENSP00000359635:E45K;ENSP00000396198:E45K;ENSP00000406916:E51K	ENSP00000359635:E45K	E	-	1	0	FGF13	137767424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.557000	0.86248	0.594000	0.82650	GAG		0.483	FGF13-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_004114		10	84	0	0	0	1	0	10	84				
CEP170	9859	broad.mit.edu	37	1	243327874	243327874	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327874T>C	ENST00000366542.1	-	13	3439	c.3388A>G	c.(3388-3390)Aca>Gca	p.T1130A	CEP170_ENST00000366544.1_Missense_Mutation_p.T1032A|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.T1032A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1130	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAACTTGTTGTGGATACTTCA	0.488																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(3388-3390)Aca>Gca		centrosomal protein 170kDa							34.0	34.0	34.0					1																	243327874		1900	4111	6011	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243327874T>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3388A>G	1.37:g.243327874T>C	ENSP00000355500:p.Thr1130Ala					CEP170_ENST00000366544.1_Missense_Mutation_p.T1032A|CEP170_ENST00000366543.1_Missense_Mutation_p.T1032A	p.T1130A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3439	-	all_neural(11;0.101)	all_cancers(173;0.003)	1130			Targeting to centrosomes.|Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3388A>G	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992994	0.35131	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	T;T;T	0.48201	0.86;0.85;0.82	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.71674	0.998;0.99;0.99;0.995	D;D;D;D	0.80764	0.994;0.979;0.979;0.98	T	0.49409	-0.8943	10	0.11794	T	0.64	-13.7257	13.9643	0.64199	0.0:0.0:0.0:1.0	.	1093;1032;1032;1130	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	A	1130;1032;1032;91	ENSP00000355500:T1130A;ENSP00000355502:T1032A;ENSP00000355501:T1032A	ENSP00000355500:T1130A	T	-	1	0	CEP170	241394497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.443000	0.80521	1.879000	0.54435	0.454000	0.30748	ACA		0.488	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		4	27	0	0	0	1	0	4	27				
LMO7	4008	broad.mit.edu	37	13	76416016	76416016	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76416016C>T	ENST00000321797.8	+	22	3950	c.3229C>T	c.(3229-3231)Cgg>Tgg	p.R1077W	LMO7_ENST00000526202.1_Missense_Mutation_p.R954W|LMO7_ENST00000377534.3_Missense_Mutation_p.R1362W|LMO7_ENST00000465261.2_Missense_Mutation_p.R1077W|LMO7_ENST00000341547.4_Missense_Mutation_p.R1028W|LMO7_ENST00000357063.3_Missense_Mutation_p.R1362W			Q8WWI1	LMO7_HUMAN	LIM domain 7	1362	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGCAAAAGCGGCTTCAGGC	0.522																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4084-4086)Cgg>Tgg		LIM domain 7							78.0	78.0	78.0					13																	76416016		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76416016C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3229C>T	13.37:g.76416016C>T	ENSP00000317802:p.Arg1077Trp					LMO7_ENST00000526202.1_Missense_Mutation_p.R954W|LMO7_ENST00000377534.3_Missense_Mutation_p.R1362W|LMO7_ENST00000321797.8_Missense_Mutation_p.R1077W|LMO7_ENST00000465261.2_Missense_Mutation_p.R1077W|LMO7_ENST00000341547.4_Missense_Mutation_p.R1028W	p.R1362W			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	25	5344	+		Breast(118;0.0992)	1362					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.4084C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.075712|2.075712	0.36662|0.36662	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038;ENST00000525914|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|T;T;T;T;T;T;T	.|0.51325	.|1.31;1.34;1.35;0.77;0.76;0.71;0.75	6.07|6.07	-4.97|-4.97	0.03029|0.03029	.|.	.|1.206980	.|0.05837	.|N	.|0.618537	T|T	0.30978|0.30978	0.0782|0.0782	N|N	0.25426|0.25426	0.745|0.745	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.19331	.|0.021;0.004;0.002;0.002;0.035	.|B;B;B;B;B	.|0.16722	.|0.007;0.001;0.0;0.0;0.016	T|T	0.38156|0.38156	-0.9674|-0.9674	5|10	.|0.59425	.|D	.|0.04	0.1636|0.1636	6.6962|6.6962	0.23201|0.23201	0.4359:0.3407:0.0:0.2234|0.4359:0.3407:0.0:0.2234	.|.	.|954;1028;1362;1077;1310	.|E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.|.;.;LMO7_HUMAN;.;.	V|W	985;245|1028;1362;1362;976;1077;954;1077	.|ENSP00000342112:R1028W;ENSP00000349571:R1362W;ENSP00000366757:R1362W;ENSP00000366719:R976W;ENSP00000317802:R1077W;ENSP00000431129:R954W;ENSP00000433352:R1077W	.|ENSP00000317802:R1077W	A|R	+|+	2|1	0|2	LMO7|LMO7	75314017|75314017	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.093000|-0.093000	0.11111|0.11111	-0.618000|-0.618000	0.05656|0.05656	-2.451000|-2.451000	0.00208|0.00208	GCG|CGG		0.522	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		20	34	0	0	0	1	0	20	34				
HFE	3077	broad.mit.edu	37	6	26091280	26091280	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091280C>T	ENST00000357618.5	+	2	410	c.288C>T	c.(286-288)caC>caT	p.H96H	HFE_ENST00000309234.6_Silent_p.H96H|HFE_ENST00000349999.4_Intron|HFE_ENST00000397022.3_Silent_p.H73H|HFE_ENST00000353147.5_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Silent_p.H96H|HFE_ENST00000336625.8_Silent_p.H96H|HFE_ENST00000317896.7_Silent_p.H96H|HFE_ENST00000470149.1_Silent_p.H96H	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	96	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGGGATCACATGTTCACTG	0.507									Hemochromatosis																													ENST00000357618.5																			0				endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(286-288)caC>caT		hemochromatosis							114.0	112.0	112.0					6																	26091280		2203	4300	6503	SO:0001819	synonymous_variant	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091280C>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.288C>T	6.37:g.26091280C>T						HFE_ENST00000309234.6_Silent_p.H96H|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000317896.7_Silent_p.H96H|HFE_ENST00000349999.4_Intron|HFE_ENST00000336625.8_Silent_p.H96H|HFE_ENST00000470149.1_Silent_p.H96H|HFE_ENST00000461397.1_Silent_p.H96H|HFE_ENST00000353147.5_Intron|HFE_ENST00000397022.3_Silent_p.H73H	p.H96H	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN			2	410	+			96			Alpha-1.		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Silent	SNP	ENST00000357618.5	37	c.288C>T	CCDS4578.1																																																																																				0.507	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			7	60	0	0	0	1	0	7	60				
NTRK3	4916	broad.mit.edu	37	15	88678612	88678612	+	Silent	SNP	C	C	T	rs145564369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88678612C>T	ENST00000360948.2	-	9	1085	c.924G>A	c.(922-924)gtG>gtA	p.V308V	NTRK3_ENST00000557856.1_Silent_p.V308V|NTRK3_ENST00000357724.2_Silent_p.V308V|NTRK3_ENST00000540489.2_Silent_p.V308V|NTRK3_ENST00000317501.3_Silent_p.V308V|NTRK3_ENST00000558676.1_Silent_p.V308V|NTRK3_ENST00000542733.2_Silent_p.V210V|NTRK3_ENST00000355254.2_Silent_p.V308V|NTRK3_ENST00000394480.2_Silent_p.V308V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	308					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCAGGCTCACCACACGTG	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(922-924)gtG>gtA		neurotrophic tyrosine kinase, receptor, type 3		C	,,	3,4399	6.2+/-15.9	0,3,2198	29.0	31.0	31.0		924,924,924	4.3	1.0	15	dbSNP_134	31	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK3	NM_001007156.2,NM_001012338.2,NM_002530.3	,,	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	,,	308/613,308/840,308/826	88678612	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678612C>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.924G>A	15.37:g.88678612C>T		TSP Lung(13;0.10)				NTRK3_ENST00000317501.3_Silent_p.V308V|NTRK3_ENST00000557856.1_Silent_p.V308V|NTRK3_ENST00000558676.1_Silent_p.V308V|NTRK3_ENST00000542733.2_Silent_p.V210V|NTRK3_ENST00000357724.2_Silent_p.V308V|NTRK3_ENST00000540489.2_Silent_p.V308V|NTRK3_ENST00000360948.2_Silent_p.V308V|NTRK3_ENST00000355254.2_Silent_p.V308V	p.V308V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		10	1245	-			308					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.924G>A	CCDS32322.1																																																																																				0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				9	18	0	0	0	1	0	9	18				
ALLC	55821	broad.mit.edu	37	2	3750056	3750056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3750056G>A	ENST00000252505.3	+	12	1241	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	379					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTGAGCCGCCTTCGGCTC	0.592										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(1078-1080)cGc>cAc		allantoicase							27.0	30.0	29.0					2																	3750056		1886	4099	5985	SO:0001583	missense	55821						allantoicase activity	g.chr2:3750056G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.1079G>A	2.37:g.3750056G>A	ENSP00000252505:p.Arg360His	HNSCC(21;0.051)					p.R360H	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	12	1241	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	379					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.1079G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239720	0.79800	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.88	4.88	0.63580	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	H	0.97896	4.1	0.49798	D	0.999829	D	0.89917	1.0	D	0.97110	1.0	D	0.93599	0.6928	9	0.87932	D	0	-23.1373	15.8834	0.79222	0.0:0.0:1.0:0.0	.	379	Q8N6M5	ALLC_HUMAN	H	360	.	ENSP00000252505:R360H	R	+	2	0	ALLC	3727931	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	6.194000	0.72082	2.409000	0.81822	0.467000	0.42956	CGC		0.592	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			11	11	0	0	0	1	0	11	11				
SLC19A2	10560	broad.mit.edu	37	1	169439274	169439274	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169439274A>G	ENST00000236137.5	-	3	1194	c.958T>C	c.(958-960)Tgg>Cgg	p.W320R	SLC19A2_ENST00000367804.4_Missense_Mutation_p.W119R	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	320					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	ACTTTCTCCCACAGGCCCTGT	0.522																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(958-960)Tgg>Cgg		solute carrier family 19 (thiamine transporter), member 2							116.0	111.0	113.0					1																	169439274		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169439274A>G	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.958T>C	1.37:g.169439274A>G	ENSP00000236137:p.Trp320Arg					SLC19A2_ENST00000367802.3_Missense_Mutation_p.W282R|SLC19A2_ENST00000367804.3_Missense_Mutation_p.W119R	p.W320R	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			3	1194	-	all_hematologic(923;0.208)		320					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.958T>C	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643036	0.87859	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.90732	-2.72;-2.72;-2.72	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	M	0.92970	3.365	0.49299	D	0.999774	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97073	0.9779	9	0.87932	D	0	-5.6405	16.26	0.82535	1.0:0.0:0.0:0.0	.	119;320	O60779-2;O60779	.;S19A2_HUMAN	R	320;119;282	ENSP00000236137:W320R;ENSP00000356778:W119R;ENSP00000356776:W282R	ENSP00000236137:W320R	W	-	1	0	SLC19A2	167705898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.240000	0.73641	0.477000	0.44152	TGG		0.522	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		28	48	0	0	0	1	0	28	48				
HMCN1	83872	broad.mit.edu	37	1	185984381	185984381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185984381T>C	ENST00000271588.4	+	31	4950	c.4721T>C	c.(4720-4722)cTt>cCt	p.L1574P	HMCN1_ENST00000367492.2_Missense_Mutation_p.L1574P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1574	Ig-like C2-type 13.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACGGGGACTTCCAATGCCT	0.408																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4720-4722)cTt>cCt		hemicentin 1							99.0	89.0	93.0					1																	185984381		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185984381T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4721T>C	1.37:g.185984381T>C	ENSP00000271588:p.Leu1574Pro					HMCN1_ENST00000367492.2_Missense_Mutation_p.L1574P	p.L1574P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			31	4950	+			1574			Ig-like C2-type 13.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4721T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.915137	0.73098	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67171	-0.25;-0.25	5.35	4.19	0.49359	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.265309	0.37577	N	0.002025	T	0.77857	0.4193	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74484	-0.3650	10	0.23302	T	0.38	.	11.6325	0.51185	0.1334:0.0:0.0:0.8666	.	1574	Q96RW7	HMCN1_HUMAN	P	1574	ENSP00000271588:L1574P;ENSP00000356462:L1574P	ENSP00000271588:L1574P	L	+	2	0	HMCN1	184251004	1.000000	0.71417	0.915000	0.36163	0.992000	0.81027	5.546000	0.67243	0.918000	0.36919	0.528000	0.53228	CTT		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	78	0	0	0	1	0	3	78				
TK2	7084	broad.mit.edu	37	16	66551710	66551710	+	Missense_Mutation	SNP	C	C	T	rs149036717	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66551710C>T	ENST00000451102.2	-	7	870	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	TK2_ENST00000527284.1_Missense_Mutation_p.V143M|TK2_ENST00000563369.2_Missense_Mutation_p.V77M|TK2_ENST00000564917.1_Missense_Mutation_p.V174M|TK2_ENST00000527800.1_Missense_Mutation_p.V77M|RP11-403P17.5_ENST00000561728.1_5'Flank|TK2_ENST00000544898.1_Missense_Mutation_p.V125M|TK2_ENST00000525974.1_Missense_Mutation_p.V77M|TK2_ENST00000545043.2_Missense_Mutation_p.V149M|TK2_ENST00000417693.3_Missense_Mutation_p.V156M|TK2_ENST00000299697.7_Missense_Mutation_p.V216M			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	174					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TCAACAGACACGTCCATGTTC	0.517													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21112	0.002		0.0	False		,,,				2504	0.0					ENST00000299697.7																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(646-648)Gtg>Atg		thymidine kinase 2, mitochondrial		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4400	4.2+/-10.8	0,2,2199	273.0	198.0	223.0		427,445,466,520	4.8	0.1	16	dbSNP_134	223	0,8600		0,0,4300	yes	missense,missense,missense,missense	TK2	NM_001172643.1,NM_001172644.1,NM_001172645.1,NM_004614.4	21,21,21,21	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign	143/235,149/241,156/248,174/266	66551710	2,13000	2201	4300	6501	SO:0001583	missense	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66551710C>T		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.520G>A	16.37:g.66551710C>T	ENSP00000414334:p.Val174Met					TK2_ENST00000527284.1_Missense_Mutation_p.V143M|TK2_ENST00000527800.1_Missense_Mutation_p.V77M|TK2_ENST00000564917.1_Missense_Mutation_p.V174M|TK2_ENST00000417693.3_Missense_Mutation_p.V156M|TK2_ENST00000545043.2_Missense_Mutation_p.V149M|TK2_ENST00000563369.2_Missense_Mutation_p.V77M|TK2_ENST00000544898.1_Missense_Mutation_p.V125M|TK2_ENST00000525974.1_Missense_Mutation_p.V77M|TK2_ENST00000451102.2_Missense_Mutation_p.V174M	p.V216M	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	7	870	-		Ovarian(137;0.0563)	174					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	c.646G>A	CCDS10805.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	9.950	1.219924	0.22373	4.54E-4	0.0	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000545043;ENST00000451102;ENST00000527800;ENST00000527284;ENST00000544898;ENST00000525974	D;D;D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64	5.78	4.82	0.62117	.	0.378221	0.30473	N	0.009558	D	0.97776	0.9270	M	0.64997	1.995	0.20764	N	0.999853	D;D;P;D;P	0.76494	0.999;0.997;0.864;0.999;0.914	D;D;B;D;B	0.66979	0.948;0.937;0.206;0.948;0.313	D	0.93666	0.6986	10	0.59425	D	0.04	-23.6563	8.2145	0.31503	0.0:0.7582:0.1596:0.0822	.	216;174;125;216;143	Q8IZR3;O00142;F5GYK4;E5KNQ5;O00142-2	.;KITM_HUMAN;.;.;.	M	216;156;149;174;77;143;125;77	ENSP00000299697:V216M;ENSP00000407469:V156M;ENSP00000438143:V149M;ENSP00000414334:V174M;ENSP00000433770:V77M;ENSP00000435312:V143M;ENSP00000440898:V125M;ENSP00000434594:V77M	ENSP00000299697:V216M	V	-	1	0	TK2	65109211	0.996000	0.38824	0.101000	0.21167	0.099000	0.18886	3.027000	0.49697	1.435000	0.47434	-0.305000	0.09177	GTG		0.517	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			17	53	0	0	0	1	0	17	53				
MKI67	4288	broad.mit.edu	37	10	129910032	129910032	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129910032A>G	ENST00000368654.3	-	11	2512	c.2137T>C	c.(2137-2139)Tct>Cct	p.S713P	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.S353P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	713					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTACAAGGAGAGTTTGCGTGG	0.418																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(2137-2139)Tct>Cct		marker of proliferation Ki-67							146.0	143.0	144.0					10																	129910032		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129910032A>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2137T>C	10.37:g.129910032A>G	ENSP00000357643:p.Ser713Pro					MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.S353P	p.S713P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			11	2512	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	713					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2137T>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185920	0.78789	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.08193	3.12;3.14	5.13	5.13	0.70059	.	0.256336	0.30011	N	0.010627	T	0.26919	0.0659	M	0.67397	2.05	0.45403	D	0.998383	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00773	-1.1572	10	0.87932	D	0	.	13.6694	0.62416	1.0:0.0:0.0:0.0	.	712;353;713	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	P	713;353;712;288	ENSP00000357643:S713P;ENSP00000357642:S353P	ENSP00000357641:S288P	S	-	1	0	MKI67	129800022	1.000000	0.71417	0.631000	0.29282	0.722000	0.41435	5.755000	0.68750	2.146000	0.66826	0.533000	0.62120	TCT		0.418	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		42	57	0	0	0	1	0	42	57				
PRKCA	5578	broad.mit.edu	37	17	64684448	64684448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684448C>T	ENST00000413366.3	+	7	741	c.715C>T	c.(715-717)Cga>Tga	p.R239*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	239	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CAAAGACCGACGACTGTCTGT	0.448																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(715-717)Cga>Tga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						145.0	134.0	138.0					17																	64684448		2203	4300	6503	SO:0001587	stop_gained	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64684448C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.715C>T	17.37:g.64684448C>T	ENSP00000408695:p.Arg239*						p.R239*	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		7	741	+			239			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Nonsense_Mutation	SNP	ENST00000413366.3	37	c.715C>T	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273884	0.95459	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	.	.	.	5.2	4.17	0.49024	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7448	0.62868	0.2965:0.7035:0.0:0.0	.	.	.	.	X	239;146	.	ENSP00000284384:R146X	R	+	1	2	PRKCA	62114910	0.326000	0.24669	0.982000	0.44146	0.986000	0.74619	0.776000	0.26704	2.580000	0.87095	0.555000	0.69702	CGA		0.448	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			28	45	0	0	0	1	0	28	45				
MAP1B	4131	broad.mit.edu	37	5	71492953	71492953	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71492953G>A	ENST00000296755.7	+	5	4069	c.3771G>A	c.(3769-3771)ccG>ccA	p.P1257P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1257					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P1257P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			2	Substitution - coding silent(2)	p.P1257P(2)	large_intestine(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3769-3771)ccG>ccA		microtubule-associated protein 1B							87.0	85.0	86.0					5																	71492953		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492953G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3771G>A	5.37:g.71492953G>A							p.P1257P	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4069	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1257					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3771G>A	CCDS4012.1																																																																																				0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		22	34	0	0	0	1	0	22	34				
PRPF8	10594	broad.mit.edu	37	17	1558720	1558720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1558720G>T	ENST00000572621.1	-	36	6176	c.5911C>A	c.(5911-5913)Ctg>Atg	p.L1971M	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1971M|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1971	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGTCAGTCAGAGTGGGCCAG	0.507																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5911-5913)Ctg>Atg		pre-mRNA processing factor 8							229.0	173.0	192.0					17																	1558720		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1558720G>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5911C>A	17.37:g.1558720G>T	ENSP00000460348:p.Leu1971Met					PRPF8_ENST00000304992.6_Missense_Mutation_p.L1971M	p.L1971M			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	36	6176	-			1971			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5911C>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048015	0.93740	.	.	ENSG00000174231	ENST00000304992	D	0.81821	-1.54	5.91	5.91	0.95273	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92709	0.6181	10	0.72032	D	0.01	-16.4353	19.2845	0.94065	0.0:0.0:1.0:0.0	.	1971	Q6P2Q9	PRP8_HUMAN	M	1971	ENSP00000304350:L1971M	ENSP00000304350:L1971M	L	-	1	2	PRPF8	1505470	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.728000	0.84847	2.813000	0.96785	0.655000	0.94253	CTG		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			21	40	1	0	2.4624e-09	1	2.98951e-09	21	40				
CD1A	909	broad.mit.edu	37	1	158224912	158224912	+	Missense_Mutation	SNP	G	G	A	rs140904380		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158224912G>A	ENST00000289429.5	+	2	630	c.97G>A	c.(97-99)Gca>Aca	p.A33T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	33					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CACCTGGATCGCATCCTTTTA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20436	0.0		0.0	False		,,,				2504	0.0					ENST00000289429.5																			1	Substitution - Missense(1)	p.A33T(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(97-99)Gca>Aca		CD1a molecule	Antithymocyte globulin(DB00098)	G	THR/ALA	0,4406		0,0,2203	137.0	115.0	123.0		97	-0.8	0.0	1	dbSNP_134	123	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CD1A	NM_001763.2	58	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	33/328	158224912	5,13001	2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158224912G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.97G>A	1.37:g.158224912G>A	ENSP00000289429:p.Ala33Thr						p.A33T	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			2	630	+	all_hematologic(112;0.0378)		33					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.97G>A	CCDS1174.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.67	1.414423	0.25465	0.0	5.81E-4	ENSG00000158477	ENST00000289429	T	0.18174	2.23	4.54	-0.785	0.10950	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.826170	0.03768	N	0.259261	T	0.02267	0.0070	N	0.04203	-0.255	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.41502	-0.9505	10	0.51188	T	0.08	-0.0225	4.9472	0.13994	0.3014:0.0:0.3237:0.3748	.	33	P06126	CD1A_HUMAN	T	33	ENSP00000289429:A33T	ENSP00000289429:A33T	A	+	1	0	CD1A	156491536	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.297000	0.08934	-1.810000	0.00614	GCA		0.468	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		38	71	0	0	0	1	0	38	71				
TBC1D32	221322	broad.mit.edu	37	6	121427277	121427277	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121427277G>A	ENST00000398212.2	-	30	3406	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Silent_p.G1160G	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1119	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CTGGATGGATGCCAGATTCTA	0.303																																						ENST00000275159.6																			0											c.(3478-3480)ggC>ggT		TBC1 domain family, member 32							173.0	163.0	166.0					6																	121427277		1823	4080	5903	SO:0001819	synonymous_variant	221322							g.chr6:121427277G>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3357C>T	6.37:g.121427277G>A						TBC1D32_ENST00000398212.2_Silent_p.G1119G|TBC1D32_ENST00000398197.2_5'UTR	p.G1160G							31	3479	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.3480C>T	CCDS43501.1																																																																																				0.303	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		11	166	0	0	0	1	0	11	166				
PSTPIP2	9050	broad.mit.edu	37	18	43591213	43591213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43591213C>A	ENST00000409746.5	-	5	359	c.288G>T	c.(286-288)caG>caT	p.Q96H	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.Q96H	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	96						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CTCTTAAACTCTGTGCAAGCT	0.338																																						ENST00000409746.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						c.(286-288)caG>caT		proline-serine-threonine phosphatase interacting protein 2							267.0	243.0	251.0					18																	43591213		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43591213C>A		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.288G>T	18.37:g.43591213C>A	ENSP00000387261:p.Gln96His					PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.Q96H	p.Q96H	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN			5	359	-			96						Missense_Mutation	SNP	ENST00000409746.5	37	c.288G>T	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909963	0.33721	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.18657	2.2	5.23	0.734	0.18294	Fps/Fes/Fer/CIP4 homology (2);	0.115412	0.64402	N	0.000011	T	0.22003	0.0530	M	0.67517	2.055	0.38319	D	0.943461	B;B	0.25486	0.096;0.127	B;B	0.35312	0.081;0.2	T	0.05305	-1.0893	10	0.40728	T	0.16	-17.0324	4.9731	0.14127	0.0:0.454:0.1527:0.3933	.	96;96	Q9H939-2;Q9H939	.;PPIP2_HUMAN	H	96	ENSP00000387261:Q96H	ENSP00000353189:Q96H	Q	-	3	2	PSTPIP2	41845211	0.983000	0.35010	0.972000	0.41901	0.902000	0.53008	0.020000	0.13466	0.204000	0.20548	-0.362000	0.07510	CAG		0.338	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			8	201	1	0	0.000274275	1	0.000298791	8	201				
CDC42BPA	8476	broad.mit.edu	37	1	227335230	227335230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227335230C>A	ENST00000366769.3	-	7	2015	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D242Y	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGATATAATCTGGAGTTCCT	0.348																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(724-726)Gat>Tat		CDC42 binding protein kinase alpha (DMPK-like)							75.0	73.0	73.0					1																	227335230		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227335230C>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.724G>T	1.37:g.227335230C>A	ENSP00000355731:p.Asp242Tyr					CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D242Y	p.D242Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			7	2015	-		all_cancers(173;0.156)|Prostate(94;0.0792)	242			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.724G>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989538	0.93106	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	L	0.41356	1.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76135	-0.3070	10	0.87932	D	0	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	242;242;242;242	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Y	242	ENSP00000355731:D242Y;ENSP00000355729:D242Y;ENSP00000335341:D242Y;ENSP00000355728:D242Y;ENSP00000355726:D242Y;ENSP00000443275:D242Y;ENSP00000355727:D242Y	ENSP00000335341:D242Y	D	-	1	0	CDC42BPA	225401853	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.783000	0.85696	2.626000	0.88956	0.650000	0.86243	GAT		0.348	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		30	51	1	0	9.78485e-24	1	1.2965e-23	30	51				
COL1A2	1278	broad.mit.edu	37	7	94039589	94039589	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94039589C>T	ENST00000297268.6	+	20	1542	c.1071C>T	c.(1069-1071)agC>agT	p.S357S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	357					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGAGAGAGCGGTAACAAGG	0.418										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1069-1071)agC>agT		collagen, type I, alpha 2	Collagenase(DB00048)						64.0	61.0	62.0					7																	94039589		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039589C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1071C>T	7.37:g.94039589C>T		HNSCC(75;0.22)					p.S357S	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		20	1542	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		357					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.1071C>T	CCDS34682.1																																																																																				0.418	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		20	20	0	0	0	1	0	20	20				
CDAN1	146059	broad.mit.edu	37	15	43020212	43020212	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43020212T>C	ENST00000356231.3	-	22	2911	c.2888A>G	c.(2887-2889)aAc>aGc	p.N963S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	963					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CACAGCAATGTTCTCTGCACT	0.552																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(2887-2889)aAc>aGc		codanin 1							173.0	166.0	168.0					15																	43020212		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43020212T>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2888A>G	15.37:g.43020212T>C	ENSP00000348564:p.Asn963Ser						p.N963S	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	22	2911	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	963					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2888A>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.388511	0.25118	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86497	-2.13	6.05	2.2	0.27929	.	0.397018	0.35124	N	0.003428	T	0.73651	0.3614	N	0.15975	0.35	0.30923	N	0.72779	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.64032	-0.6502	10	0.33141	T	0.24	-3.6651	8.7975	0.34887	0.0:0.2235:0.0:0.7765	.	963;961	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	S	963;961	ENSP00000348564:N963S	ENSP00000267892:N961S	N	-	2	0	CDAN1	40807504	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.421000	0.34815	0.117000	0.18138	-0.304000	0.09214	AAC		0.552	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		9	224	0	0	0	1	0	9	224				
APBA1	320	broad.mit.edu	37	9	72131763	72131763	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131763A>G	ENST00000265381.4	-	2	586	c.364T>C	c.(364-366)Tac>Cac	p.Y122H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	122					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGGGCCGGTACTGCACAGCA	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(364-366)Tac>Cac		amyloid beta (A4) precursor protein-binding, family A, member 1							28.0	25.0	26.0					9																	72131763		2201	4298	6499	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131763A>G	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.364T>C	9.37:g.72131763A>G	ENSP00000265381:p.Tyr122His						p.Y122H	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	586	-			122					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.364T>C	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555555	0.65425	.	.	ENSG00000107282	ENST00000265381	T	0.05081	3.5	5.16	5.16	0.70880	.	0.235855	0.37178	N	0.002203	T	0.06371	0.0164	N	0.24115	0.695	0.40016	D	0.975355	P	0.50943	0.94	B	0.41691	0.364	T	0.29671	-1.0004	10	0.87932	D	0	.	15.2817	0.73790	1.0:0.0:0.0:0.0	.	122	Q02410	APBA1_HUMAN	H	122	ENSP00000265381:Y122H	ENSP00000265381:Y122H	Y	-	1	0	APBA1	71321583	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.389000	0.66255	2.084000	0.62774	0.459000	0.35465	TAC		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		3	25	0	0	0	1	0	3	25				
C14orf28	122525	broad.mit.edu	37	14	45370113	45370113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370113C>T	ENST00000325192.3	+	2	750	c.475C>T	c.(475-477)Cga>Tga	p.R159*	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Nonsense_Mutation_p.R159*	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	159										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTCCAACTGGCGATGCCCAAC	0.343																																						ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(475-477)Cga>Tga		chromosome 14 open reading frame 28							69.0	71.0	70.0					14																	45370113		2203	4300	6503	SO:0001587	stop_gained	122525							g.chr14:45370113C>T	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.475C>T	14.37:g.45370113C>T	ENSP00000326846:p.Arg159*					RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Nonsense_Mutation_p.R159*|C14orf28_ENST00000553841.1_3'UTR	p.R159*	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN			2	750	+			159						Nonsense_Mutation	SNP	ENST00000325192.3	37	c.475C>T	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	C	37	6.295475	0.97449	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	.	.	.	5.86	2.54	0.30619	.	0.227351	0.44285	D	0.000467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7653	0.34700	0.4889:0.3816:0.1295:0.0	.	.	.	.	X	159	.	ENSP00000326846:R159X	R	+	1	2	C14orf28	44439863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.663000	0.37429	0.882000	0.36016	0.650000	0.86243	CGA		0.343	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		17	31	0	0	0	1	0	17	31				
RAB20	55647	broad.mit.edu	37	13	111176381	111176381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111176381C>T	ENST00000267328.3	-	2	549	c.336G>A	c.(334-336)ggG>ggA	p.G112G		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	112					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACTTTGTTCCCCACGATGG	0.612																																						ENST00000267328.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(334-336)ggG>ggA		RAB20, member RAS oncogene family							64.0	61.0	62.0					13																	111176381		2203	4300	6503	SO:0001819	synonymous_variant	55647				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr13:111176381C>T	AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.336G>A	13.37:g.111176381C>T							p.G112G	NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)		2	549	-	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		112					Q5T9X5|Q9NX49	Silent	SNP	ENST00000267328.3	37	c.336G>A	CCDS9512.1																																																																																				0.612	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817		21	35	0	0	0	1	0	21	35				
IRF1	3659	broad.mit.edu	37	5	131820178	131820178	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131820178C>A	ENST00000245414.4	-	9	987	c.729G>T	c.(727-729)caG>caT	p.Q243H	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Missense_Mutation_p.Q243H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	243					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCACTCCGACTGCTCCAAGA	0.567																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(727-729)caG>caT		interferon regulatory factor 1							114.0	112.0	113.0					5																	131820178		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131820178C>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.729G>T	5.37:g.131820178C>A	ENSP00000245414:p.Gln243His					IRF1_ENST00000405885.2_Missense_Mutation_p.Q243H	p.Q243H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	9	987	-		all_cancers(142;0.026)|Breast(839;0.198)	243					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.729G>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299727	0.60195	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.81499	-1.5;-1.5	5.67	2.52	0.30459	.	0.576259	0.15685	U	0.249725	D	0.85531	0.5718	L	0.57536	1.79	0.31396	N	0.677201	D	0.67145	0.996	D	0.75484	0.986	T	0.82653	-0.0351	10	0.52906	T	0.07	-24.1453	9.2823	0.37735	0.0:0.6701:0.0:0.3299	.	243	P10914	IRF1_HUMAN	H	243	ENSP00000245414:Q243H;ENSP00000384406:Q243H	ENSP00000245414:Q243H	Q	-	3	2	IRF1	131848077	0.983000	0.35010	0.977000	0.42913	0.875000	0.50365	0.618000	0.24373	0.766000	0.33244	0.561000	0.74099	CAG		0.567	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		29	52	1	0	3.57733e-08	1	4.26642e-08	29	52				
JAKMIP1	152789	broad.mit.edu	37	4	6050601	6050601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6050601G>A	ENST00000409021.3	-	16	2460	c.2011C>T	c.(2011-2013)Ctt>Ttt	p.L671F	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L486F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGGGCAAGCACAGTTCCA	0.463																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2011-2013)Ctt>Ttt		janus kinase and microtubule interacting protein 1							101.0	99.0	100.0					4																	6050601		1978	4139	6117	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6050601G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2011C>T	4.37:g.6050601G>A	ENSP00000386711:p.Leu671Phe					JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L486F	p.L671F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			16	2460	-			442					A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000409021.3	37	c.2011C>T	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802676	0.70682	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.51574	1.13;0.7	4.91	4.91	0.64330	.	0.146881	0.26166	U	0.025957	T	0.57504	0.2058	.	.	.	0.80722	D	1	D;D	0.57257	0.979;0.979	P;P	0.56563	0.801;0.801	T	0.58081	-0.7699	9	0.48119	T	0.1	.	11.0788	0.48047	0.0845:0.0:0.9154:0.0	.	486;671	Q96N16-5;Q96N16-2	.;.	F	671;486	ENSP00000386711:L671F;ENSP00000387042:L486F	ENSP00000386711:L671F	L	-	1	0	JAKMIP1	6101502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.568000	0.67385	2.444000	0.82710	0.650000	0.86243	CTT		0.463	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		3	30	0	0	0	1	0	3	30				
ZNF646	9726	broad.mit.edu	37	16	31088179	31088179	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31088179A>G	ENST00000394979.2	+	1	957	c.534A>G	c.(532-534)ccA>ccG	p.P178P	ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Silent_p.P178P|ZNF668_ENST00000564456.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAAGCCACCCAGGTCCTGAGG	0.592																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(532-534)ccA>ccG		zinc finger protein 646							52.0	54.0	53.0					16																	31088179		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088179A>G	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.534A>G	16.37:g.31088179A>G						ZNF646_ENST00000300850.5_Silent_p.P178P	p.P178P			O15015	ZN646_HUMAN			1	957	+			178					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.534A>G																																																																																					0.592	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		4	64	0	0	0	1	0	4	64				
TULP4	56995	broad.mit.edu	37	6	158850911	158850911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158850911G>A	ENST00000367097.3	+	3	1882	c.525G>A	c.(523-525)tgG>tgA	p.W175*	TULP4_ENST00000367094.2_Nonsense_Mutation_p.W175*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	175					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGGCATATGGACTCCTGACG	0.498																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(523-525)tgG>tgA		tubby like protein 4							198.0	179.0	186.0					6																	158850911		2203	4300	6503	SO:0001587	stop_gained	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158850911G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.525G>A	6.37:g.158850911G>A	ENSP00000356064:p.Trp175*					TULP4_ENST00000367094.2_Nonsense_Mutation_p.W175*	p.W175*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	3	1882	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	175					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Nonsense_Mutation	SNP	ENST00000367097.3	37	c.525G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	49	15.947577	0.99850	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0567	18.9528	0.92646	0.0:0.0:1.0:0.0	.	.	.	.	X	175	.	ENSP00000356061:W175X	W	+	3	0	TULP4	158770899	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.751000	0.98889	2.479000	0.83701	0.655000	0.94253	TGG		0.498	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		11	81	0	0	0	1	0	11	81				
ADAM33	80332	broad.mit.edu	37	20	3652086	3652086	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652086T>C	ENST00000356518.2	-	17	2204	c.1963A>G	c.(1963-1965)Act>Gct	p.T655A	ADAM33_ENST00000379861.4_Missense_Mutation_p.T655A|ADAM33_ENST00000350009.2_Intron|ADAM33_ENST00000466620.1_Intron	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	655	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCAGGCAGTCAGGCAGCGC	0.632																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1963-1965)Act>Gct		ADAM metallopeptidase domain 33							67.0	67.0	67.0					20																	3652086		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652086T>C	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1963A>G	20.37:g.3652086T>C	ENSP00000348912:p.Thr655Ala					ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.T655A|ADAM33_ENST00000350009.2_Intron	p.T655A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			17	2204	-			655			EGF-like.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1963A>G	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	T	0.180	-1.062858	0.01950	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000439201	T;T	0.76060	-0.99;-0.99	5.46	0.456	0.16655	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.49847	0.1581	N	0.20357	0.565	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24048	-1.0171	9	0.13108	T	0.6	.	1.4243	0.02320	0.1429:0.3227:0.1457:0.3887	.	655;655	Q9BZ11;A2A2L3	ADA33_HUMAN;.	A	655;655;535	ENSP00000348912:T655A;ENSP00000369190:T655A	ENSP00000348912:T655A	T	-	1	0	ADAM33	3600086	0.000000	0.05858	0.169000	0.22859	0.012000	0.07955	-2.274000	0.01163	0.045000	0.15804	-0.379000	0.06801	ACT		0.632	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		7	87	0	0	0	1	0	7	87				
BORA	79866	broad.mit.edu	37	13	73320902	73320902	+	Missense_Mutation	SNP	G	G	A	rs376265700		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73320902G>A	ENST00000390667.5	+	10	1232	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	BORA_ENST00000377815.3_Missense_Mutation_p.D309N	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	379					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ACCCGCCATGGATGCTGCTGG	0.443																																						ENST00000390667.5																			0											c.(1135-1137)Gat>Aat		bora, aurora kinase A activator		G	ASN/ASP	1,3891		0,1,1945	117.0	114.0	115.0		1135	4.8	0.0	13		115	0,8306		0,0,4153	no	missense	BORA	NM_024808.2	23	0,1,6098	AA,AG,GG		0.0,0.0257,0.0082	benign	379/560	73320902	1,12197	1946	4153	6099	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320902G>A	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1135G>A	13.37:g.73320902G>A	ENSP00000375082:p.Asp379Asn					BORA_ENST00000377815.3_Missense_Mutation_p.D309N	p.D379N	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			10	1232	+			379					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.1135G>A	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	7.228	0.598744	0.13939	2.57E-4	0.0	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.48522	0.81;0.81	5.7	4.84	0.62591	.	0.518933	0.22734	N	0.056289	T	0.36908	0.0984	L	0.35854	1.095	0.09310	N	1	B;B;B;B	0.12630	0.002;0.003;0.005;0.006	B;B;B;B	0.14578	0.004;0.006;0.006;0.011	T	0.22626	-1.0211	10	0.37606	T	0.19	-3.2855	10.0768	0.42366	0.1542:0.0:0.8458:0.0	.	309;379;439;379	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	N	309;379	ENSP00000367046:D309N;ENSP00000375082:D379N	ENSP00000367046:D309N	D	+	1	0	BORA	72218903	0.894000	0.30519	0.004000	0.12327	0.292000	0.27327	3.904000	0.56325	1.380000	0.46344	0.655000	0.94253	GAT		0.443	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		29	49	0	0	0	1	0	29	49				
CD163L1	283316	broad.mit.edu	37	12	7527243	7527243	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7527243G>A	ENST00000313599.3	-	13	3261	c.3204C>T	c.(3202-3204)agC>agT	p.S1068S	CD163L1_ENST00000416109.2_Silent_p.S1078S|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Silent_p.S1068S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1068	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CGTGGGCATCGCTCAGGTCCC	0.622											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313599.3																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.D1069fs*27(1)|p.S1068S(1)	ovary(1)|large_intestine(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3202-3204)agC>agT		CD163 molecule-like 1							72.0	64.0	67.0					12																	7527243		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527243G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3204C>T	12.37:g.7527243G>A			OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	CD163L1_ENST00000416109.2_Silent_p.S1078S|CD163L1_ENST00000396630.1_Silent_p.S1068S	p.S1068S			Q9NR16	C163B_HUMAN			13	3261	-			1068			SRCR 10.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3204C>T	CCDS8577.1																																																																																				0.622	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		11	18	0	0	0	1	0	11	18				
ARHGAP11A	9824	broad.mit.edu	37	15	32928743	32928743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32928743A>G	ENST00000361627.3	+	12	2491	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N401S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N401S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	590					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GATGAAAATAACATGACCAAA	0.383																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1768-1770)aAc>aGc		Rho GTPase activating protein 11A							82.0	87.0	85.0					15																	32928743		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928743A>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1769A>G	15.37:g.32928743A>G	ENSP00000355090:p.Asn590Ser					ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N401S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N401S	p.N590S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2491	+		all_lung(180;1.3e-11)	590					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.1769A>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	9.018	0.984173	0.18889	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10099	2.91	5.03	2.7	0.31948	.	0.093420	0.46145	D	0.000304	T	0.10337	0.0253	L	0.52266	1.64	0.26818	N	0.968868	P	0.42692	0.787	B	0.40199	0.322	T	0.11817	-1.0572	10	0.45353	T	0.12	.	7.4597	0.27287	0.7809:0.1437:0.0755:0.0	.	590	Q6P4F7	RHGBA_HUMAN	S	590;401	ENSP00000355090:N590S	ENSP00000355090:N590S	N	+	2	0	ARHGAP11A	30716035	0.915000	0.31059	0.637000	0.29366	0.227000	0.25037	3.024000	0.49674	0.385000	0.24970	-0.499000	0.04595	AAC		0.383	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		31	59	0	0	0	1	0	31	59				
CUL9	23113	broad.mit.edu	37	6	43153263	43153263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43153263G>A	ENST00000252050.4	+	3	749	c.665G>A	c.(664-666)aGt>aAt	p.S222N	CUL9_ENST00000354495.3_Missense_Mutation_p.S222N|CUL9_ENST00000372647.2_Missense_Mutation_p.S222N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	222					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GATTTTGACAGTCGCTATACA	0.507																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(664-666)aGt>aAt		cullin 9							145.0	119.0	128.0					6																	43153263		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43153263G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.665G>A	6.37:g.43153263G>A	ENSP00000252050:p.Ser222Asn					CUL9_ENST00000372647.2_Missense_Mutation_p.S222N|CUL9_ENST00000354495.3_Missense_Mutation_p.S222N	p.S222N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			3	749	+			222					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.665G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437959	0.43326	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.46451	0.87;0.87;0.87	4.36	4.36	0.52297	.	0.162995	0.53938	D	0.000057	T	0.23330	0.0564	L	0.55743	1.74	0.28162	N	0.928924	B;B;P	0.43750	0.188;0.188;0.816	B;B;B	0.35039	0.1;0.1;0.194	T	0.14643	-1.0465	10	0.49607	T	0.09	-20.2036	17.0698	0.86570	0.0:0.0:1.0:0.0	.	222;222;222	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	N	222	ENSP00000252050:S222N;ENSP00000346490:S222N;ENSP00000361730:S222N	ENSP00000252050:S222N	S	+	2	0	CUL9	43261241	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.071000	0.76770	2.262000	0.75019	0.462000	0.41574	AGT		0.507	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	44	0	0	0	1	0	4	44				
PBRM1	55193	broad.mit.edu	37	3	52678781	52678781	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52678781A>C	ENST00000296302.7	-	8	839	c.838T>G	c.(838-840)Ttt>Gtt	p.F280V	PBRM1_ENST00000337303.4_Missense_Mutation_p.F280V|PBRM1_ENST00000356770.4_Missense_Mutation_p.F280V|PBRM1_ENST00000394830.3_Missense_Mutation_p.F280V|PBRM1_ENST00000409767.1_Missense_Mutation_p.F280V|PBRM1_ENST00000409114.3_Missense_Mutation_p.F280V|PBRM1_ENST00000409057.1_Missense_Mutation_p.F280V|PBRM1_ENST00000410007.1_Missense_Mutation_p.F280V			Q86U86	PB1_HUMAN	polybromo 1	280					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCatataaaatattttttta	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(838-840)Ttt>Gtt		polybromo 1							42.0	42.0	42.0					3																	52678781		2201	4300	6501	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52678781A>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.838T>G	3.37:g.52678781A>C	ENSP00000296302:p.Phe280Val					PBRM1_ENST00000394830.3_Missense_Mutation_p.F280V|PBRM1_ENST00000296302.7_Missense_Mutation_p.F280V|PBRM1_ENST00000409114.3_Missense_Mutation_p.F280V|PBRM1_ENST00000409057.1_Missense_Mutation_p.F280V|PBRM1_ENST00000409767.1_Missense_Mutation_p.F280V|PBRM1_ENST00000337303.4_Missense_Mutation_p.F280V|PBRM1_ENST00000410007.1_Missense_Mutation_p.F280V	p.F280V			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	8	840	-			280					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.838T>G		.	.	.	.	.	.	.	.	.	.	A	26.1	4.707995	0.89018	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.69	5.69	0.88448	Bromodomain (3);	0.105164	0.64402	D	0.000002	T	0.35128	0.0921	L	0.32530	0.975	0.58432	D	0.999999	P;B;B;P;D;P;B;P;B	0.54964	0.81;0.006;0.438;0.81;0.969;0.845;0.407;0.81;0.438	P;B;P;P;D;P;B;P;P	0.76071	0.781;0.019;0.658;0.781;0.987;0.832;0.214;0.781;0.658	T	0.03818	-1.1001	10	0.40728	T	0.16	-13.4308	14.1918	0.65644	1.0:0.0:0.0:0.0	.	280;280;280;280;280;280;280;280;280	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	V	280;280;280;280;280;280;280;280;280;224	ENSP00000349213:F280V;ENSP00000378307:F280V;ENSP00000296302:F280V;ENSP00000338302:F280V;ENSP00000386593:F280V;ENSP00000386529:F280V;ENSP00000386643:F280V;ENSP00000386601:F280V;ENSP00000387775:F280V;ENSP00000397662:F224V	ENSP00000296302:F280V	F	-	1	0	PBRM1	52653821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.393000	0.79851	2.167000	0.68274	0.460000	0.39030	TTT		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		6	7	0	0	0	1	0	6	7				
EIF4G1	1981	broad.mit.edu	37	3	184040467	184040467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184040467C>T	ENST00000346169.2	+	12	2015	c.1744C>T	c.(1744-1746)Cac>Tac	p.H582Y	EIF4G1_ENST00000342981.4_Missense_Mutation_p.H582Y|EIF4G1_ENST00000411531.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000392537.2_Missense_Mutation_p.H495Y|EIF4G1_ENST00000441154.1_Missense_Mutation_p.H418Y|EIF4G1_ENST00000434061.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000424196.1_Missense_Mutation_p.H589Y|EIF4G1_ENST00000352767.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000414031.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000435046.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000350481.5_Missense_Mutation_p.H418Y|EIF4G1_ENST00000319274.6_Missense_Mutation_p.H582Y|EIF4G1_ENST00000427845.1_Missense_Mutation_p.H495Y|EIF4G1_ENST00000382330.3_Missense_Mutation_p.H589Y|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	582	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACAAAATTCACAATGCTGA	0.507																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1744-1746)Cac>Tac		eukaryotic translation initiation factor 4 gamma, 1							53.0	55.0	54.0					3																	184040467		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040467C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1744C>T	3.37:g.184040467C>T	ENSP00000316879:p.His582Tyr					EIF4G1_ENST00000427845.1_Missense_Mutation_p.H495Y|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000346169.2_Missense_Mutation_p.H582Y|EIF4G1_ENST00000319274.6_Missense_Mutation_p.H582Y|EIF4G1_ENST00000411531.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000352767.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000441154.1_Missense_Mutation_p.H418Y|EIF4G1_ENST00000424196.1_Missense_Mutation_p.H589Y|EIF4G1_ENST00000350481.5_Missense_Mutation_p.H418Y|EIF4G1_ENST00000414031.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000382330.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000435046.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000392537.2_Missense_Mutation_p.H495Y	p.H582Y	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	2158	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		582			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1744C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804628	0.31961	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.14	3.23	0.37069	.	0.856659	0.10757	N	0.637660	T	0.46425	0.1392	N	0.22421	0.69	0.27741	N	0.944494	D;D;P;D	0.57571	0.964;0.96;0.931;0.98	B;B;B;P	0.46275	0.406;0.358;0.268;0.51	T	0.18967	-1.0320	10	0.08599	T	0.76	-2.503	7.4866	0.27437	0.1799:0.6217:0.1984:0.0	.	589;582;582;589	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Y	582;542;495;582;589;589;523;418;589;495;582;582;589;542;418;418;386;386	ENSP00000316879:H582Y;ENSP00000391935:H542Y;ENSP00000376320:H495Y;ENSP00000391412:H582Y;ENSP00000413159:H589Y;ENSP00000371767:H589Y;ENSP00000403269:H523Y;ENSP00000317600:H418Y;ENSP00000338020:H589Y;ENSP00000407682:H495Y;ENSP00000343450:H582Y;ENSP00000323737:H582Y;ENSP00000416255:H589Y;ENSP00000395974:H542Y;ENSP00000398145:H418Y;ENSP00000399858:H418Y;ENSP00000411826:H386Y;ENSP00000404754:H386Y	ENSP00000323737:H582Y	H	+	1	0	EIF4G1	185523161	0.906000	0.30813	0.972000	0.41901	0.973000	0.67179	1.169000	0.31871	1.368000	0.46115	0.462000	0.41574	CAC		0.507	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		18	21	0	0	0	1	0	18	21				
HERC1	8925	broad.mit.edu	37	15	63904729	63904729	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63904729G>T	ENST00000443617.2	-	77	14208	c.14121C>A	c.(14119-14121)tcC>tcA	p.S4707S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4707	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAACAATCCAGGACATCCCTT	0.577																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14119-14121)tcC>tcA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							104.0	102.0	103.0					15																	63904729		2158	4252	6410	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904729G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14121C>A	15.37:g.63904729G>T							p.S4707S	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			77	14208	-			4707			HECT.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.14121C>A	CCDS45277.1																																																																																				0.577	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		8	50	1	0	0.00621372	1	0.00652201	8	50				
ZNF222	7673	broad.mit.edu	37	19	44531552	44531552	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44531552C>T	ENST00000187879.8	+	3	304				ZNF222_ENST00000590160.1_3'UTR|ZNF222_ENST00000391960.3_Missense_Mutation_p.H58Y|ZNF222_ENST00000587846.1_Missense_Mutation_p.H58Y|AC067968.3_ENST00000592583.1_lincRNA|ZNF223_ENST00000591793.1_Missense_Mutation_p.H58Y	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GTTCACAGGGCATCAACCATT	0.423																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(172-174)Cat>Tat		zinc finger protein 223							200.0	162.0	173.0					19																	44531552		692	1591	2283	SO:0001627	intron_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44531552C>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.142+251C>T	19.37:g.44531552C>T						ZNF222_ENST00000391960.3_Missense_Mutation_p.H58Y|ZNF222_ENST00000587846.1_Missense_Mutation_p.H58Y|ZNF222_ENST00000187879.8_Intron|ZNF222_ENST00000590160.1_3'UTR	p.H58Y			Q9UK11	ZN223_HUMAN			3	255	+		Prostate(69;0.0352)	49			KRAB.		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.172C>T	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	3.643	-0.073132	0.07228	.	.	ENSG00000159885	ENST00000391960	T	0.00724	5.78	1.42	1.42	0.22433	.	.	.	.	.	T	0.00552	0.0018	N	0.17631	0.505	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.45249	-0.9274	9	0.02654	T	1	.	6.2369	0.20768	0.0:1.0:0.0:0.0	.	58	G5E9B9	.	Y	58	ENSP00000375822:H58Y	ENSP00000375822:H58Y	H	+	1	0	ZNF222	49223392	0.000000	0.05858	0.075000	0.20258	0.647000	0.38526	-1.546000	0.02188	1.084000	0.41184	0.436000	0.28706	CAT		0.423	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			17	29	0	0	0	1	0	17	29				
TAF1	6872	broad.mit.edu	37	X	70586309	70586309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70586309G>A	ENST00000373790.4	+	1	196	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	TAF1_ENST00000423759.1_Missense_Mutation_p.A49T|TAF1_ENST00000449580.1_Missense_Mutation_p.A49T|TAF1_ENST00000276072.3_Missense_Mutation_p.A49T	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	49	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCAATGGAGCCGGGCAGCT	0.627																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(145-147)Gcc>Acc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							27.0	27.0	27.0					X																	70586309		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70586309G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.145G>A	X.37:g.70586309G>A	ENSP00000362895:p.Ala49Thr					TAF1_ENST00000276072.3_Missense_Mutation_p.A49T|TAF1_ENST00000373790.4_Missense_Mutation_p.A49T|TAF1_ENST00000423759.1_Missense_Mutation_p.A49T	p.A49T			P21675	TAF1_HUMAN			1	196	+	Renal(35;0.156)	all_lung(315;0.000321)	49			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.145G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.371668	0.42003	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.08720	3.06;3.13;3.13;3.08	4.99	4.06	0.47325	TAFII-230 TBP-binding (2);	0.117943	0.64402	D	0.000020	T	0.05227	0.0139	N	0.19112	0.55	0.31048	N	0.715548	B;P	0.35272	0.183;0.493	B;B	0.30495	0.054;0.116	T	0.18085	-1.0348	10	0.25106	T	0.35	.	11.7299	0.51730	0.0:0.0:0.8243:0.1757	.	49;49	P21675;P21675-2	TAF1_HUMAN;.	T	49	ENSP00000362895:A49T;ENSP00000389000:A49T;ENSP00000406549:A49T;ENSP00000276072:A49T	ENSP00000276072:A49T	A	+	1	0	TAF1	70503034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.085000	0.76875	2.235000	0.73313	0.509000	0.49947	GCC		0.627	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		9	10	0	0	0	1	0	9	10				
TRAPPC4	51399	broad.mit.edu	37	11	118889524	118889524	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889524T>C	ENST00000533632.1	+	1	383	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	TRAPPC4_ENST00000434101.2_Missense_Mutation_p.Y7H|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Y7H|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.Y7H|RPS25_ENST00000527673.1_5'Flank|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Y7H	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	7					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTTTAGTGTGTATGTGGTGAA	0.572																																						ENST00000533632.1																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(19-21)Tat>Cat		trafficking protein particle complex 4							140.0	134.0	136.0					11																	118889524		2200	4295	6495	SO:0001583	missense	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118889524T>C	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.19T>C	11.37:g.118889524T>C	ENSP00000436005:p.Tyr7His					TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.Y7H	p.Y7H	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	1	383	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	7					A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	c.19T>C	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	T	36	5.628182	0.96671	.	.	ENSG00000196655	ENST00000533632;ENST00000528230;ENST00000525303;ENST00000434101;ENST00000359005;ENST00000533058	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.86	5.86	0.93980	Longin-like (1);	0.052068	0.85682	D	0.000000	T	0.73666	0.3616	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.76494	0.975;0.998;0.999;0.999	P;D;D;D	0.78314	0.9;0.969;0.991;0.989	T	0.77286	-0.2644	10	0.87932	D	0	-5.3618	16.2461	0.82446	0.0:0.0:0.0:1.0	.	7;7;7;7	B4DF86;B4DME1;Q9Y296;B4DF36	.;.;TPPC4_HUMAN;.	H	7	ENSP00000436005:Y7H;ENSP00000436827:Y7H;ENSP00000435339:Y7H;ENSP00000405033:Y7H;ENSP00000351896:Y7H;ENSP00000432920:Y7H	ENSP00000351896:Y7H	Y	+	1	0	TRAPPC4	118394734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.723000	0.84788	2.246000	0.74042	0.533000	0.62120	TAT		0.572	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		9	148	0	0	0	1	0	9	148				
MCF2L2	23101	broad.mit.edu	37	3	183013151	183013151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183013151C>T	ENST00000328913.3	-	13	1909	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	MCF2L2_ENST00000473233.1_Missense_Mutation_p.A538T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A538T|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.A538T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	538							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGATGTGGGGCCACAGGTTGC	0.488																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1612-1614)Gcc>Acc		MCF.2 cell line derived transforming sequence-like 2							173.0	149.0	157.0					3																	183013151		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183013151C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1612G>A	3.37:g.183013151C>T	ENSP00000328118:p.Ala538Thr					MCF2L2_ENST00000473233.1_Missense_Mutation_p.A538T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A538T|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.A538T	p.A538T	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		13	1909	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		538					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1612G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904871	0.72868	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.05649	4.59;4.6;3.7;3.41	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.925;0.996	T	0.00287	-1.1846	10	0.45353	T	0.12	.	18.1772	0.89764	0.0:1.0:0.0:0.0	.	538;538	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	T	538;538;538;74;538	ENSP00000328118:A538T;ENSP00000420070:A538T;ENSP00000388190:A538T;ENSP00000414131:A538T	ENSP00000328118:A538T	A	-	1	0	MCF2L2	184495845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.921000	0.75805	2.539000	0.85634	0.655000	0.94253	GCC		0.488	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		27	46	0	0	0	1	0	27	46				
STK16	8576	broad.mit.edu	37	2	220111265	220111265	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220111265T>C	ENST00000409638.3	+	3	258				STK16_ENST00000486813.1_Intron|STK16_ENST00000409516.3_Intron|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000396738.2_Intron|STK16_ENST00000409260.1_Silent_p.L36L|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409743.1_Intron|GLB1L_ENST00000409640.1_5'Flank|GLB1L_ENST00000295759.7_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16						cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCACATCTTGGGAAGGTTT	0.473																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409260.1																			0				skin(1)	1						c.(106-108)ctT>ctC		serine/threonine kinase 16																																				SO:0001627	intron_variant	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220111265T>C	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.87-114T>C	2.37:g.220111265T>C						STK16_ENST00000486813.1_Intron|STK16_ENST00000409743.1_Intron|STK16_ENST00000409516.3_Intron|STK16_ENST00000409638.3_Intron|STK16_ENST00000396738.2_Intron	p.L36L			O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	216	+		Renal(207;0.0474)	29			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Silent	SNP	ENST00000409638.3	37	c.108T>C	CCDS42822.1																																																																																				0.473	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			4	2	0	0	0	1	0	4	2				
STXBP5	134957	broad.mit.edu	37	6	147703945	147703945	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:147703945G>A	ENST00000321680.6	+	27	3225	c.3225G>A	c.(3223-3225)agG>agA	p.R1075R	STXBP5_ENST00000367481.3_Silent_p.R1039R|STXBP5_ENST00000367480.3_Silent_p.R1022R|STXBP5_ENST00000179882.6_Silent_p.R730R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1075					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGGCTTCAAGGAGCCTTGCAC	0.443																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(3115-3117)agG>agA		syntaxin binding protein 5 (tomosyn)							173.0	173.0	173.0					6																	147703945		2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147703945G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3225G>A	6.37:g.147703945G>A						STXBP5_ENST00000179882.6_Silent_p.R730R|STXBP5_ENST00000321680.6_Silent_p.R1075R|STXBP5_ENST00000367480.3_Silent_p.R1022R	p.R1039R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	25	3225	+		Ovarian(120;0.0164)	1075					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.3117G>A	CCDS47499.1																																																																																				0.443	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			67	114	0	0	0	1	0	67	114				
SHANK2	22941	broad.mit.edu	37	11	70507832	70507832	+	Intron	SNP	A	A	G	rs200913076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70507832A>G	ENST00000423696.2	-	6	753				SHANK2_ENST00000409530.1_Missense_Mutation_p.M13T|SHANK2_ENST00000409161.1_Missense_Mutation_p.M13T|SHANK2_ENST00000357171.3_Missense_Mutation_p.M14T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449833.2_Missense_Mutation_p.M14T|SHANK2_ENST00000449116.2_Missense_Mutation_p.M14T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCCGTCATCATCACCGCGGC	0.547																																						ENST00000449833.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(40-42)aTg>aCg		SH3 and multiple ankyrin repeat domains 2							125.0	127.0	127.0					11																	70507832		2200	4294	6494	SO:0001627	intron_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507832A>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-49T>C	11.37:g.70507832A>G						SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.M14T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.M14T|SHANK2_ENST00000409161.1_Missense_Mutation_p.M13T|SHANK2_ENST00000409530.1_Missense_Mutation_p.M13T	p.M14T	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		1	91	-			0					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.41T>C		.	.	.	.	.	.	.	.	.	.	.	14.88	2.667038	0.47677	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T	0.53857	2.52;2.52;1.02;0.6;1.02	4.56	4.56	0.56223	.	.	.	.	.	T	0.34803	0.0910	N	0.08118	0	0.31731	N	0.637002	B;B	0.26363	0.147;0.038	B;B	0.24006	0.028;0.05	T	0.46034	-0.9220	9	0.66056	D	0.02	.	13.9299	0.63989	1.0:0.0:0.0:0.0	.	14;14	B7ZKU9;Q9UPX8-4	.;.	T	14;13;13;14;14	ENSP00000399423:M14T;ENSP00000386491:M13T;ENSP00000387324:M13T;ENSP00000394939:M14T;ENSP00000349694:M14T	ENSP00000349694:M14T	M	-	2	0	SHANK2	70185480	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.165000	0.50778	1.693000	0.51124	0.402000	0.26972	ATG		0.547	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		36	83	0	0	0	1	0	36	83				
EPB41L5	57669	broad.mit.edu	37	2	120799600	120799600	+	Nonsense_Mutation	SNP	G	G	T	rs142458983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120799600G>T	ENST00000263713.5	+	3	413	c.199G>T	c.(199-201)Gag>Tag	p.E67*	EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E67*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	67	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAAAGGACAAGAGTTGTTTGA	0.348																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(199-201)Gag>Tag		erythrocyte membrane protein band 4.1 like 5							157.0	150.0	152.0					2																	120799600		2203	4300	6503	SO:0001587	stop_gained	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120799600G>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.199G>T	2.37:g.120799600G>T	ENSP00000263713:p.Glu67*					EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.E67*	p.E67*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			3	413	+			67			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Nonsense_Mutation	SNP	ENST00000263713.5	37	c.199G>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	G	36	5.826420	0.96996	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	.	.	.	5.18	5.18	0.71444	.	0.496080	0.17838	N	0.160299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	13.8361	0.63410	0.0:0.1544:0.8456:0.0	.	.	.	.	X	67	.	ENSP00000263713:E67X	E	+	1	0	EPB41L5	120516070	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	7.137000	0.77295	2.420000	0.82092	0.460000	0.39030	GAG		0.348	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		6	98	1	0	3.59834e-05	1	4.01776e-05	6	98				
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639635C>T	ENST00000535489.1	-	6	1422	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF426_ENST00000593003.1_Silent_p.K324K|ZNF426_ENST00000253115.2_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(970-972)aaG>aaA		zinc finger protein 426							92.0	92.0	92.0					19																	9639635		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639635C>T	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1086G>A	19.37:g.9639635C>T						ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000535489.1_Silent_p.K362K	p.K324K			Q9BUY5	ZN426_HUMAN			6	1449	-			362					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.972G>A	CCDS12215.1																																																																																				0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		18	35	0	0	0	1	0	18	35				
PLXNA2	5362	broad.mit.edu	37	1	208206762	208206762	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208206762G>A	ENST00000367033.3	-	28	5714	c.4957C>T	c.(4957-4959)Cat>Tat	p.H1653Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1653					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCACCAGATGCCACACCTTG	0.622																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4957-4959)Cat>Tat		plexin A2							89.0	76.0	80.0					1																	208206762		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208206762G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4957C>T	1.37:g.208206762G>A	ENSP00000356000:p.His1653Tyr						p.H1653Y	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	28	5714	-			1653					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.4957C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344977	0.95807	.	.	ENSG00000076356	ENST00000367033	T	0.24908	1.83	5.53	5.53	0.82687	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.049127	0.85682	D	0.000000	T	0.64394	0.2594	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74396	-0.3679	10	0.87932	D	0	.	19.4936	0.95062	0.0:0.0:1.0:0.0	.	1653	O75051	PLXA2_HUMAN	Y	1653	ENSP00000356000:H1653Y	ENSP00000356000:H1653Y	H	-	1	0	PLXNA2	206273385	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.507000	0.97996	2.605000	0.88082	0.655000	0.94253	CAT		0.622	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		27	36	0	0	0	1	0	27	36				
ZCCHC14	23174	broad.mit.edu	37	16	87446036	87446036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87446036C>T	ENST00000268616.4	-	12	2097	c.1880G>A	c.(1879-1881)aGc>aAc	p.S627N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	627							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAGGACTGTGCTGGGCGTCCC	0.602																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1879-1881)aGc>aAc		zinc finger, CCHC domain containing 14							63.0	72.0	69.0					16																	87446036		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446036C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1880G>A	16.37:g.87446036C>T	ENSP00000268616:p.Ser627Asn						p.S627N	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2097	-			627					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1880G>A	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	6.046	0.376749	0.11466	.	.	ENSG00000140948	ENST00000268616	T	0.18502	2.21	5.83	5.83	0.93111	.	0.135808	0.64402	D	0.000003	T	0.11793	0.0287	N	0.19112	0.55	0.31043	N	0.716127	B;B	0.29988	0.264;0.03	B;B	0.27715	0.082;0.014	T	0.09885	-1.0654	10	0.20046	T	0.44	-22.3132	14.9101	0.70749	0.0:0.7389:0.2611:0.0	.	627;627	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	N	627	ENSP00000268616:S627N	ENSP00000268616:S627N	S	-	2	0	ZCCHC14	86003537	1.000000	0.71417	0.484000	0.27391	0.020000	0.10135	3.106000	0.50322	2.746000	0.94184	0.563000	0.77884	AGC		0.602	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	88	0	0	0	1	0	4	88				
PCDHA13	56136	broad.mit.edu	37	5	140263264	140263264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140263264G>A	ENST00000289272.2	+	1	1411	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G471S|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	471	Cadherin 5. {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(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCCGCCGGGCTGCCACAT	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1411-1413)Ggc>Agc									62.0	65.0	64.0					5																	140263264		2203	4300	6503	SO:0001583	missense	0							g.chr5:140263264G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1411G>A	5.37:g.140263264G>A	ENSP00000289272:p.Gly471Ser					PCDHA13_ENST00000409494.1_Missense_Mutation_p.G471S|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.G471S	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1411	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1411G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948145	0.92593	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.69306	-0.39;-0.39	4.62	4.62	0.57501	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.84133	0.5405	M	0.87381	2.88	0.45607	D	0.99854	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.995	D	0.87507	0.2437	9	0.87932	D	0	.	17.2979	0.87174	0.0:0.0:1.0:0.0	.	471;471;471	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	471	ENSP00000386821:G471S;ENSP00000289272:G471S	ENSP00000289272:G471S	G	+	1	0	PCDHA13	140243448	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	9.043000	0.93799	2.386000	0.81285	0.556000	0.70494	GGC		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		22	57	0	0	0	1	0	22	57				
ROR2	4920	broad.mit.edu	37	9	94486137	94486137	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94486137T>A	ENST00000375708.3	-	9	2837	c.2639A>T	c.(2638-2640)aAc>aTc	p.N880I	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	880	Ser/Thr-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATGGATGTGTTGGAGGGGGC	0.652																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2638-2640)aAc>aTc		receptor tyrosine kinase-like orphan receptor 2							99.0	94.0	96.0					9																	94486137		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486137T>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2639A>T	9.37:g.94486137T>A	ENSP00000364860:p.Asn880Ile					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.N880I	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2837	-			880			Ser/Thr-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2639A>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.745785	0.30955	.	.	ENSG00000169071	ENST00000375708	T	0.78126	-1.15	4.86	4.86	0.63082	.	0.000000	0.45361	D	0.000371	T	0.78755	0.4333	N	0.24115	0.695	0.58432	D	0.999994	D	0.63880	0.993	P	0.61397	0.888	T	0.82045	-0.0652	10	0.72032	D	0.01	.	14.6483	0.68777	0.0:0.0:0.0:1.0	.	880	Q01974	ROR2_HUMAN	I	880	ENSP00000364860:N880I	ENSP00000364860:N880I	N	-	2	0	ROR2	93525958	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	1.795000	0.38784	2.044000	0.60594	0.459000	0.35465	AAC		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			13	78	0	0	0	1	0	13	78				
TMC7	79905	broad.mit.edu	37	16	19049260	19049260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19049260G>A	ENST00000304381.5	+	8	1200	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	TMC7_ENST00000569532.1_Missense_Mutation_p.R357H|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000421369.3_Missense_Mutation_p.R247H	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	357					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAAACAATACGCATTTACTCT	0.413																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(739-741)cGc>cAc		transmembrane channel-like 7							202.0	174.0	184.0					16																	19049260		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19049260G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1070G>A	16.37:g.19049260G>A	ENSP00000304710:p.Arg357His					TMC7_ENST00000304381.5_Missense_Mutation_p.R357H|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.R357H	p.R247H	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			8	1298	+			357					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.740G>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335666	0.81801	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.59906	0.23;0.23	5.5	5.5	0.81552	.	0.206985	0.42548	D	0.000697	T	0.57242	0.2040	L	0.42529	1.33	0.35722	D	0.817205	D;D	0.61697	0.99;0.99	P;P	0.52957	0.714;0.696	T	0.58624	-0.7604	10	0.14252	T	0.57	.	12.984	0.58581	0.0766:0.0:0.9234:0.0	.	357;357	Q7Z402;B3KSZ3	TMC7_HUMAN;.	H	357;247	ENSP00000304710:R357H;ENSP00000397081:R247H	ENSP00000304710:R357H	R	+	2	0	TMC7	18956761	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.979000	0.63806	2.588000	0.87417	0.650000	0.86243	CGC		0.413	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		55	57	0	0	0	1	0	55	57				
ZNF577	84765	broad.mit.edu	37	19	52376558	52376558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376558G>T	ENST00000301399.5	-	7	1050	c.685C>A	c.(685-687)Ctc>Atc	p.L229I	ZNF577_ENST00000420592.1_Missense_Mutation_p.L170I|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.L170I|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGGACCATGAGCTGTGACTTT	0.498																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(508-510)Ctc>Atc		zinc finger protein 577							88.0	79.0	82.0					19																	52376558		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376558G>T	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.685C>A	19.37:g.52376558G>T	ENSP00000301399:p.Leu229Ile					ZNF577_ENST00000301399.5_Missense_Mutation_p.L229I|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.L170I	p.L170I			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1841	-		all_neural(266;0.0602)	229					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.508C>A	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	9.576	1.122216	0.20877	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	3.1	0.865	0.19074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66896	0.2836	M	0.80746	2.51	0.09310	N	1	D;D	0.58620	0.983;0.979	D;P	0.63192	0.912;0.829	T	0.55153	-0.8185	9	0.87932	D	0	.	6.8621	0.24072	0.3389:0.0:0.6611:0.0	.	229;170	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	I	229;170;170;229	ENSP00000301399:L229I;ENSP00000413476:L170I;ENSP00000389652:L170I;ENSP00000404509:L229I	ENSP00000301399:L229I	L	-	1	0	ZNF577	57068370	0.694000	0.27738	0.010000	0.14722	0.133000	0.20885	0.957000	0.29215	0.149000	0.19098	-0.140000	0.14226	CTC		0.498	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		10	20	1	0	0.000442599	1	0.00048047	10	20				
ARAP1	116985	broad.mit.edu	37	11	72408216	72408216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408216C>T	ENST00000393609.3	-	22	3180	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	ARAP1_ENST00000393605.3_Missense_Mutation_p.R753H|ARAP1_ENST00000359373.5_Missense_Mutation_p.R993H|ARAP1_ENST00000426523.1_Missense_Mutation_p.R748H|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.R748H|ARAP1_ENST00000429686.1_Missense_Mutation_p.R687H|ARAP1_ENST00000455638.2_Missense_Mutation_p.R993H	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	993	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCACACTTGCGGTAGATGCC	0.682																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2977-2979)cGc>cAc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							43.0	42.0	42.0					11																	72408216		2200	4291	6491	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408216C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2978G>A	11.37:g.72408216C>T	ENSP00000377233:p.Arg993His					ARAP1_ENST00000426523.1_Missense_Mutation_p.R748H|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.R993H|ARAP1_ENST00000334211.8_Missense_Mutation_p.R748H|ARAP1_ENST00000393609.3_Missense_Mutation_p.R993H|ARAP1_ENST00000429686.1_Missense_Mutation_p.R687H|ARAP1_ENST00000393605.3_Missense_Mutation_p.R753H	p.R993H			Q96P48	ARAP1_HUMAN			22	3829	-			993			Rho-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2978G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853919	0.91355	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.2	5.2	0.72013	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	H	0.95745	3.715	0.49483	D	0.999795	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.997;0.993	D	0.85608	0.1256	10	0.87932	D	0	.	17.3159	0.87224	0.0:1.0:0.0:0.0	.	748;687;993;993;753	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	H	993;993;753;748;993;748;687;281	ENSP00000352332:R993H;ENSP00000390461:R993H;ENSP00000377230:R753H;ENSP00000335506:R748H;ENSP00000377233:R993H;ENSP00000392264:R748H;ENSP00000403127:R687H;ENSP00000411452:R281H	ENSP00000335506:R748H	R	-	2	0	ARAP1	72085864	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.421000	0.80204	2.424000	0.82194	0.455000	0.32223	CGC		0.682	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		5	55	0	0	0	1	0	5	55				
OSBPL11	114885	broad.mit.edu	37	3	125295110	125295110	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125295110T>C	ENST00000296220.5	-	5	878	c.589A>G	c.(589-591)Aat>Gat	p.N197D		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	197					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGTCCAACATTAAAAAAAGAA	0.383																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(589-591)Aat>Gat		oxysterol binding protein-like 11							120.0	123.0	122.0					3																	125295110		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125295110T>C	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.589A>G	3.37:g.125295110T>C	ENSP00000296220:p.Asn197Asp						p.N197D	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			5	878	-			197					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.589A>G	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220287	0.39201	.	.	ENSG00000144909	ENST00000296220	T	0.40476	1.03	5.06	5.06	0.68205	.	0.394751	0.29126	N	0.013078	T	0.33177	0.0854	L	0.47716	1.5	0.42940	D	0.994349	B	0.31125	0.309	B	0.22386	0.039	T	0.13469	-1.0508	10	0.12430	T	0.62	-27.3109	15.0474	0.71838	0.0:0.0:0.0:1.0	.	197	Q9BXB4	OSB11_HUMAN	D	197	ENSP00000296220:N197D	ENSP00000296220:N197D	N	-	1	0	OSBPL11	126777800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.694000	0.47035	2.138000	0.66242	0.451000	0.29950	AAT		0.383	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		6	81	0	0	0	1	0	6	81				
OR2G2	81470	broad.mit.edu	37	1	247751701	247751701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751701G>T	ENST00000320065.1	+	1	40	c.40G>T	c.(40-42)Ggt>Tgt	p.G14C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAACCTAGCAGGTTTCATCCT	0.403																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(40-42)Ggt>Tgt		olfactory receptor, family 2, subfamily G, member 2							169.0	160.0	163.0					1																	247751701		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751701G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.40G>T	1.37:g.247751701G>T	ENSP00000326349:p.Gly14Cys					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.G14C	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	40	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		14					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.40G>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562184	0.45590	.	.	ENSG00000177489	ENST00000320065	T	0.03065	4.06	3.87	2.92	0.33932	.	0.506796	0.14220	U	0.333520	T	0.15392	0.0371	M	0.81802	2.56	0.09310	N	0.999996	D	0.76494	0.999	D	0.66497	0.944	T	0.01725	-1.1287	10	0.66056	D	0.02	.	9.6584	0.39941	0.1098:0.0:0.8902:0.0	.	14	Q8NGZ5	OR2G2_HUMAN	C	14	ENSP00000326349:G14C	ENSP00000326349:G14C	G	+	1	0	OR2G2	245818324	0.000000	0.05858	0.185000	0.23176	0.012000	0.07955	0.164000	0.16542	1.968000	0.57251	0.591000	0.81541	GGT		0.403	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			52	60	1	0	3.10996e-30	1	4.16621e-30	52	60				
BCL6	604	broad.mit.edu	37	3	187447458	187447458	+	Silent	SNP	C	C	T	rs2228258	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187447458C>T	ENST00000406870.2	-	5	1101	c.735G>A	c.(733-735)ccG>ccA	p.P245P	BCL6_ENST00000450123.2_Silent_p.P245P|BCL6_ENST00000232014.4_Silent_p.P245P|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	245					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCTCCAAAGTCGGCCGGCTGT	0.567			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(733-735)ccG>ccA		B-cell CLL/lymphoma 6		C	,,	0,4406		0,0,2203	50.0	51.0	51.0		735,735,735	-8.1	0.1	3	dbSNP_98	51	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	,,	0,11,6492	TT,TC,CC		0.1279,0.0,0.0846	,,	245/707,245/651,245/707	187447458	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447458C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.735G>A	3.37:g.187447458C>T						BCL6_ENST00000232014.4_Silent_p.P245P|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.P245P|RP11-211G3.3_ENST00000449623.1_Intron	p.P245P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1101	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		245					A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	c.735G>A	CCDS3289.1																																																																																				0.567	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		8	17	0	0	0	1	0	8	17				
KRT26	353288	broad.mit.edu	37	17	38922856	38922856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922856G>T	ENST00000335552.4	-	8	1366	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCAGTGAAAGGAGATTGCCA	0.338																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(1318-1320)Ctt>Att		keratin 26							162.0	160.0	161.0					17																	38922856		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38922856G>T	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.1318C>A	17.37:g.38922856G>T	ENSP00000334798:p.Leu440Ile						p.L440I	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			8	1366	-		Breast(137;0.00526)	440			Tail.			Missense_Mutation	SNP	ENST00000335552.4	37	c.1318C>A	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026556	0.35797	.	.	ENSG00000186393	ENST00000335552	D	0.82803	-1.65	5.49	2.15	0.27550	.	0.267019	0.26967	N	0.021598	T	0.81182	0.4769	M	0.80183	2.485	0.27674	N	0.946671	B	0.24043	0.096	B	0.31245	0.126	T	0.67745	-0.5591	10	0.20519	T	0.43	.	8.4384	0.32801	0.0:0.3223:0.5113:0.1664	.	440	Q7Z3Y9	K1C26_HUMAN	I	440	ENSP00000334798:L440I	ENSP00000334798:L440I	L	-	1	0	KRT26	36176382	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	0.545000	0.23268	0.653000	0.30826	0.655000	0.94253	CTT		0.338	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		8	79	1	0	5.4927e-09	1	6.6252e-09	8	79				
PDE10A	10846	broad.mit.edu	37	6	165749631	165749631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165749631G>A	ENST00000366882.1	-	22	2372	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	PDE10A_ENST00000354448.4_Missense_Mutation_p.P740S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P750S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	740					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TTCAGAAGAGGCTCCGTGGGA	0.468																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2218-2220)Cct>Tct		phosphodiesterase 10A	Dipyridamole(DB00975)						94.0	88.0	90.0					6																	165749631		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165749631G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2218C>T	6.37:g.165749631G>A	ENSP00000355847:p.Pro740Ser					PDE10A_ENST00000354448.4_Missense_Mutation_p.P740S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P750S	p.P740S			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	22	2372	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	740					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2218C>T		.	.	.	.	.	.	.	.	.	.	G	24.5	4.535909	0.85812	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.81330	-1.48;-1.48	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	L	0.54323	1.7	0.80722	D	1	D;P	0.89917	1.0;0.922	D;P	0.85130	0.997;0.519	D	0.86329	0.1697	10	0.59425	D	0.04	.	19.5373	0.95257	0.0:0.0:1.0:0.0	.	750;740	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	740;768;750;740;739	ENSP00000355847:P740S;ENSP00000346435:P740S	ENSP00000341187:P750S	P	-	1	0	PDE10A	165669621	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	8.942000	0.92970	2.681000	0.91329	0.655000	0.94253	CCT		0.468	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			16	21	0	0	0	1	0	16	21				
ZNF354B	117608	broad.mit.edu	37	5	178310441	178310441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310441C>T	ENST00000322434.3	+	5	1214	c.988C>T	c.(988-990)Cca>Tca	p.P330S	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAATACAATCCAGGCAGGAA	0.388																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(988-990)Cca>Tca		zinc finger protein 354B							66.0	68.0	67.0					5																	178310441		2201	4298	6499	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310441C>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.988C>T	5.37:g.178310441C>T	ENSP00000327143:p.Pro330Ser						p.P330S	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1214	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	330					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.988C>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	C	7.277	0.608328	0.14002	.	.	ENSG00000178338	ENST00000322434	T	0.14640	2.49	3.62	2.69	0.31865	.	.	.	.	.	T	0.04588	0.0125	N	0.01048	-1.04	0.09310	N	1	B	0.34015	0.435	B	0.30105	0.111	T	0.24693	-1.0153	9	0.72032	D	0.01	-30.3011	9.9535	0.41653	0.0:0.631:0.369:0.0	.	330	Q96LW1	Z354B_HUMAN	S	330	ENSP00000327143:P330S	ENSP00000327143:P330S	P	+	1	0	ZNF354B	178243047	0.000000	0.05858	0.903000	0.35520	0.027000	0.11550	0.507000	0.22675	1.855000	0.53841	0.561000	0.74099	CCA		0.388	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		21	54	0	0	0	1	0	21	54				
DYNC1H1	1778	broad.mit.edu	37	14	102477134	102477134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102477134C>T	ENST00000360184.4	+	32	6627	c.6463C>T	c.(6463-6465)Ccg>Tcg	p.P2155S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2155					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGGACATCCCGCTGCTCTT	0.582																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(6463-6465)Ccg>Tcg		dynein, cytoplasmic 1, heavy chain 1							103.0	93.0	96.0					14																	102477134		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102477134C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6463C>T	14.37:g.102477134C>T	ENSP00000348965:p.Pro2155Ser						p.P2155S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			32	6627	+			2155					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.6463C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886229	0.72410	.	.	ENSG00000197102	ENST00000360184	T	0.44482	0.92	5.49	4.59	0.56863	.	0.104089	0.64402	D	0.000002	T	0.68559	0.3014	M	0.90977	3.165	0.80722	D	1	D	0.64830	0.994	P	0.60415	0.874	T	0.78145	-0.2318	10	0.87932	D	0	.	15.6263	0.76859	0.1385:0.8615:0.0:0.0	.	2155	Q14204	DYHC1_HUMAN	S	2155	ENSP00000348965:P2155S	ENSP00000348965:P2155S	P	+	1	0	DYNC1H1	101546887	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.649000	0.83500	1.296000	0.44742	0.563000	0.77884	CCG		0.582	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		17	41	0	0	0	1	0	17	41				
USH2A	7399	broad.mit.edu	37	1	216496819	216496819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216496819C>T	ENST00000307340.3	-	8	1933	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	USH2A_ENST00000366942.3_Missense_Mutation_p.G516E|USH2A_ENST00000366943.2_Missense_Mutation_p.G516E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	516	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		G -> V (in USH2A; unknown pathological significance).		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAATACCTCCCACTAATGGT	0.368										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527	GRCh37	CM044734	USH2A	M		c.(1546-1548)gGg>gAg		Usher syndrome 2A (autosomal recessive, mild)							103.0	100.0	101.0					1																	216496819		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216496819C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1547G>A	1.37:g.216496819C>T	ENSP00000305941:p.Gly516Glu	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.G516E|USH2A_ENST00000307340.3_Missense_Mutation_p.G516E	p.G516E			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1933	-			516		G -> V (in USH2A; uncertain pathogenicity).	Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1547G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504153	0.85176	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.42131	0.99;0.98;1.02	5.3	5.3	0.74995	Laminin, N-terminal (3);	0.000000	0.44483	D	0.000454	T	0.73321	0.3572	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.958;1.0	T	0.80331	-0.1427	10	0.87932	D	0	.	18.964	0.92687	0.0:1.0:0.0:0.0	.	516;516	O75445-2;O75445	.;USH2A_HUMAN	E	516	ENSP00000305941:G516E;ENSP00000355910:G516E;ENSP00000355909:G516E	ENSP00000305941:G516E	G	-	2	0	USH2A	214563442	1.000000	0.71417	0.916000	0.36221	0.788000	0.44548	7.230000	0.78097	2.459000	0.83118	0.655000	0.94253	GGG		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		29	53	0	0	0	1	0	29	53				
SNHG14	104472715	broad.mit.edu	37	15	25432740	25432740	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25432740C>A	ENST00000424208.1	+	0	761				SNORD115-9_ENST00000362912.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNORD115-10_ENST00000365073.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAAAATCATGCTCAATAGGAT	0.488																																						ENST00000424208.1																			0																				446.0	444.0	444.0					15																	25432740		876	1991	2867			0							g.chr15:25432740C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25432740C>A						SNORD115-10_ENST00000365073.1_RNA		NR_003305.1						0	761	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.488	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			17	282	1	0	1.99824e-07	1	2.35189e-07	17	282				
CCDC109B	55013	broad.mit.edu	37	4	110608696	110608696	+	Missense_Mutation	SNP	G	G	A	rs144584495	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110608696G>A	ENST00000394650.4	+	8	1092	c.959G>A	c.(958-960)cGt>cAt	p.R320H	CASP6_ENST00000510324.1_5'Flank	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	320					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AAACAGGCGCGTCATTCTCTC	0.353																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(958-960)cGt>cAt		coiled-coil domain containing 109B		G	HIS/ARG	0,4406		0,0,2203	98.0	100.0	100.0		959	4.3	0.1	4	dbSNP_134	100	9,8591	7.1+/-27.0	0,9,4291	yes	missense	CCDC109B	NM_017918.4	29	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging	320/337	110608696	9,12997	2203	4300	6503	SO:0001583	missense	55013					integral to membrane		g.chr4:110608696G>A	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.959G>A	4.37:g.110608696G>A	ENSP00000378145:p.Arg320His						p.R320H	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	8	1092	+			320					A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	c.959G>A	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278949	0.59758	0.0	0.001047	ENSG00000005059	ENST00000394650	T	0.34072	1.38	5.21	4.34	0.51931	.	0.063541	0.64402	D	0.000009	T	0.35068	0.0919	L	0.32530	0.975	0.22226	N	0.999277	D	0.65815	0.995	P	0.51777	0.679	T	0.14448	-1.0472	10	0.62326	D	0.03	-2.0076	8.0725	0.30697	0.0799:0.0:0.7614:0.1587	.	320	Q9NWR8	C109B_HUMAN	H	320	ENSP00000378145:R320H	ENSP00000378145:R320H	R	+	2	0	CCDC109B	110828145	0.851000	0.29673	0.053000	0.19242	0.020000	0.10135	1.366000	0.34193	1.276000	0.44395	0.591000	0.81541	CGT		0.353	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		25	48	0	0	0	1	0	25	48				
PCDHAC2	56134	broad.mit.edu	37	5	140347082	140347082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347082C>T	ENST00000289269.5	+	1	1263	c.731C>T	c.(730-732)tCt>tTt	p.S244F	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	244	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGATCTCTGTGCGTGTC	0.622																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(730-732)tCt>tTt									63.0	63.0	63.0					5																	140347082		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347082C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.731C>T	5.37:g.140347082C>T	ENSP00000289269:p.Ser244Phe					PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.S244F	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1263	+			244			Cadherin 2.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.731C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	2.901	-0.227447	0.06022	.	.	ENSG00000243232	ENST00000289269	T	0.53640	0.61	5.72	3.55	0.40652	Cadherin (4);Cadherin-like (1);	0.365855	0.20095	N	0.099352	T	0.26448	0.0646	N	0.17564	0.495	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.15665	-1.0429	10	0.11182	T	0.66	.	8.5048	0.33181	0.0:0.6142:0.264:0.1218	.	244;244	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	F	244	ENSP00000289269:S244F	ENSP00000289269:S244F	S	+	2	0	PCDHAC2	140327266	0.000000	0.05858	0.675000	0.29917	0.987000	0.75469	0.257000	0.18369	1.370000	0.46153	0.561000	0.74099	TCT		0.622	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		24	50	0	0	0	1	0	24	50				
RELN	5649	broad.mit.edu	37	7	103202385	103202385	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103202385C>A	ENST00000428762.1	-	35	5385	c.5226G>T	c.(5224-5226)cgG>cgT	p.R1742R	RELN_ENST00000424685.2_Silent_p.R1742R|RELN_ENST00000343529.5_Silent_p.R1742R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1742					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCATCTGAACCGGGTCCTGG	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5224-5226)cgG>cgT		reelin							56.0	46.0	49.0					7																	103202385		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202385C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5226G>T	7.37:g.103202385C>A						RELN_ENST00000424685.2_Silent_p.R1742R|RELN_ENST00000343529.5_Silent_p.R1742R	p.R1742R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5385	-			1742					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5226G>T	CCDS47680.1																																																																																				0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	32	1	0	0.248553	1	0.25002	7	32				
SMO	6608	broad.mit.edu	37	7	128845485	128845485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128845485G>A	ENST00000249373.3	+	4	1062	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	261					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AACTCGAATCGCTACCCTGCT	0.537			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(781-783)cGc>cAc		smoothened, frizzled family receptor							116.0	112.0	113.0					7																	128845485		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128845485G>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.782G>A	7.37:g.128845485G>A	ENSP00000249373:p.Arg261His						p.R261H	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			4	1062	+			261					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.782G>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499891	0.96355	.	.	ENSG00000128602	ENST00000249373	D	0.83914	-1.78	5.66	5.66	0.87406	GPCR, family 2-like (1);	0.091893	0.85682	D	0.000000	D	0.91442	0.7299	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91670	0.5349	10	0.62326	D	0.03	.	18.7297	0.91730	0.0:0.0:1.0:0.0	.	261	Q99835	SMO_HUMAN	H	261	ENSP00000249373:R261H	ENSP00000249373:R261H	R	+	2	0	SMO	128632721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.795000	0.99099	2.668000	0.90789	0.561000	0.74099	CGC		0.537	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		25	96	0	0	0	1	0	25	96				
PTCHD1	139411	broad.mit.edu	37	X	23411710	23411710	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411710A>G	ENST00000379361.4	+	3	2935	c.2075A>G	c.(2074-2076)tAt>tGt	p.Y692C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	692					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATGGATCGATATGCCTCCTCT	0.493																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(2074-2076)tAt>tGt		patched domain containing 1							96.0	87.0	90.0					X																	23411710		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411710A>G	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2075A>G	X.37:g.23411710A>G	ENSP00000368666:p.Tyr692Cys						p.Y692C	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	2935	+			692					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2075A>G	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056918	0.55325	.	.	ENSG00000165186	ENST00000379361	D	0.86497	-2.13	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	M	0.66297	2.02	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	D	0.93164	0.6560	10	0.87932	D	0	.	14.3779	0.66892	1.0:0.0:0.0:0.0	.	692	Q96NR3	PTHD1_HUMAN	C	692	ENSP00000368666:Y692C	ENSP00000368666:Y692C	Y	+	2	0	PTCHD1	23321631	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.957000	0.93082	1.775000	0.52247	0.430000	0.28490	TAT		0.493	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		40	53	0	0	0	1	0	40	53				
HIRA	7290	broad.mit.edu	37	22	19365463	19365463	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19365463G>T	ENST00000263208.5	-	14	1798	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A	HIRA_ENST00000541063.1_Silent_p.A470A|HIRA_ENST00000340170.4_Silent_p.A514A|HIRA_ENST00000546308.1_Silent_p.A470A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	514	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAGGCTTCGAGGCGCCGAAGG	0.597																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1540-1542)gcC>gcA		histone cell cycle regulator							96.0	104.0	101.0					22																	19365463		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365463G>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1542C>A	22.37:g.19365463G>T						HIRA_ENST00000546308.1_Silent_p.A470A|HIRA_ENST00000541063.1_Silent_p.A470A|HIRA_ENST00000340170.4_Silent_p.A514A	p.A514A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			14	1798	-	Colorectal(54;0.0993)		514			Interaction with CCNA1.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.1542C>A	CCDS13759.1																																																																																				0.597	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		8	103	1	0	0.27861	1	0.279982	8	103				
TMEM237	65062	broad.mit.edu	37	2	202494502	202494502	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202494502C>T	ENST00000409883.2	-	8	743	c.627G>A	c.(625-627)aaG>aaA	p.K209K	TMEM237_ENST00000409444.2_Silent_p.K201K|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	209					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TCCAGGAAGGCTTCACGTCCA	0.433																																						ENST00000409444.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						c.(601-603)aaG>aaA		transmembrane protein 237							111.0	113.0	112.0					2																	202494502		1919	4123	6042	SO:0001819	synonymous_variant	65062					integral to membrane	protein binding	g.chr2:202494502C>T	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.627G>A	2.37:g.202494502C>T						TMEM237_ENST00000409883.2_Silent_p.K209K|TMEM237_ENST00000466839.1_5'UTR	p.K201K	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN			8	920	-			233					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Silent	SNP	ENST00000409883.2	37	c.603G>A	CCDS46489.1																																																																																				0.433	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		24	53	0	0	0	1	0	24	53				
IRAK3	11213	broad.mit.edu	37	12	66641935	66641935	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641935A>G	ENST00000261233.4	+	12	2196	c.1775A>G	c.(1774-1776)cAg>cGg	p.Q592R	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q531R	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATATGAACAGTACAAAAAA	0.418																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1774-1776)cAg>cGg		interleukin-1 receptor-associated kinase 3							46.0	50.0	49.0					12																	66641935		2132	4274	6406	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641935A>G	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1775A>G	12.37:g.66641935A>G	ENSP00000261233:p.Gln592Arg					IRAK3_ENST00000457197.2_Missense_Mutation_p.Q531R	p.Q592R	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	2196	+			592						Missense_Mutation	SNP	ENST00000261233.4	37	c.1775A>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746955	0.30955	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.73258	-0.7;-0.73	5.4	2.97	0.34412	.	0.867296	0.09834	N	0.749878	T	0.50803	0.1637	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.062;0.079	B;B	0.24701	0.055;0.025	T	0.37663	-0.9696	9	.	.	.	-0.9991	6.0891	0.19985	0.6667:0.1705:0.0:0.1628	.	531;592	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	R	592;531	ENSP00000261233:Q592R;ENSP00000409852:Q531R	.	Q	+	2	0	IRAK3	64928202	0.002000	0.14202	0.004000	0.12327	0.005000	0.04900	0.569000	0.23638	0.327000	0.23409	0.459000	0.35465	CAG		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			10	66	0	0	0	1	0	10	66				
NUP210	23225	broad.mit.edu	37	3	13373855	13373855	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13373855A>G	ENST00000254508.5	-	29	3955	c.3873T>C	c.(3871-3873)ccT>ccC	p.P1291P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1291					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTCTATTTCAGGGTTGAGCA	0.473																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3871-3873)ccT>ccC		nucleoporin 210kDa							201.0	201.0	201.0					3																	13373855		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13373855A>G	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3873T>C	3.37:g.13373855A>G							p.P1291P	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			29	3955	-	all_neural(104;0.187)		1291					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3873T>C	CCDS33704.1																																																																																				0.473	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		4	108	0	0	0	1	0	4	108				
WDR75	84128	broad.mit.edu	37	2	190331306	190331306	+	Missense_Mutation	SNP	A	A	G	rs538721609		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190331306A>G	ENST00000314761.4	+	13	1505	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	482						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGACATATACAGTAAGTTA	0.333																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(1444-1446)tAc>tGc		WD repeat domain 75							72.0	75.0	74.0					2																	190331306		2203	4299	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190331306A>G	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1445A>G	2.37:g.190331306A>G	ENSP00000314193:p.Tyr482Cys						p.Y482C	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		13	1505	+			482					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.1445A>G	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812367	0.70912	.	.	ENSG00000115368	ENST00000314761	T	0.04758	3.56	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);	0.559188	0.20197	N	0.097162	T	0.11922	0.0290	L	0.43152	1.355	0.50467	D	0.99987	D;D	0.67145	0.985;0.996	P;P	0.56700	0.731;0.804	T	0.02358	-1.1171	10	0.46703	T	0.11	-17.832	15.0721	0.72046	1.0:0.0:0.0:0.0	.	482;482	A8K330;Q8IWA0	.;WDR75_HUMAN	C	482	ENSP00000314193:Y482C	ENSP00000314193:Y482C	Y	+	2	0	WDR75	190039551	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.220000	0.65267	2.222000	0.72286	0.533000	0.62120	TAC		0.333	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		25	36	0	0	0	1	0	25	36				
FRS2	10818	broad.mit.edu	37	12	69964235	69964235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69964235G>A	ENST00000550389.1	+	4	437	c.191G>A	c.(190-192)cGc>cAc	p.R64H	FRS2_ENST00000397997.2_Missense_Mutation_p.R64H|FRS2_ENST00000549921.1_Missense_Mutation_p.R64H|FRS2_ENST00000299293.2_Missense_Mutation_p.R64H	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	64	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGCCTGCGACGCTATGGCTAT	0.403																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(190-192)cGc>cAc		fibroblast growth factor receptor substrate 2							128.0	119.0	122.0					12																	69964235		1975	4155	6130	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69964235G>A	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.191G>A	12.37:g.69964235G>A	ENSP00000447241:p.Arg64His					FRS2_ENST00000397997.2_Missense_Mutation_p.R64H|FRS2_ENST00000550389.1_Missense_Mutation_p.R64H|FRS2_ENST00000549921.1_Missense_Mutation_p.R64H	p.R64H	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		7	701	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		64			IRS-type PTB.		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.191G>A	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876722	0.97055	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000547414;ENST00000550389;ENST00000550937;ENST00000397997;ENST00000551325	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.65	5.65	0.86999	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.91129	0.7207	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91129	0.4936	9	.	.	.	-12.1511	19.7056	0.96070	0.0:0.0:1.0:0.0	.	64	Q8WU20	FRS2_HUMAN	H	64;64;27;64;64;64;64	ENSP00000299293:R64H;ENSP00000450048:R64H;ENSP00000447007:R27H;ENSP00000447241:R64H;ENSP00000447804:R64H;ENSP00000381083:R64H;ENSP00000449432:R64H	.	R	+	2	0	FRS2	68250502	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.808000	0.99193	2.659000	0.90383	0.462000	0.41574	CGC		0.403	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		27	48	0	0	0	1	0	27	48				
RBMXL1	494115	broad.mit.edu	37	1	89448867	89448867	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448867A>G	ENST00000321792.5	-	2	1070	c.643T>C	c.(643-645)Tct>Cct	p.S215P	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.S215P	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	215					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TCTTTAGTAGAATACCCATCA	0.448																																						ENST00000399794.2																			0											c.(643-645)Tct>Cct		RNA binding motif protein, X-linked-like 1							158.0	152.0	154.0					1																	89448867		2203	4298	6501	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448867A>G	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.643T>C	1.37:g.89448867A>G	ENSP00000318415:p.Ser215Pro					CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S215P|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	p.S215P	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1358	-			215						Missense_Mutation	SNP	ENST00000321792.5	37	c.643T>C	CCDS716.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284772	0.80803	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76578	-1.03;-1.03	1.53	-0.0492	0.13836	RBM1CTR (1);	0.336788	0.30036	N	0.010571	T	0.71151	0.3306	M	0.64404	1.975	0.19300	N	0.999977	D	0.60575	0.988	D	0.63192	0.912	T	0.60551	-0.7241	10	0.62326	D	0.03	-0.2911	3.8825	0.09083	0.467:0.0:0.0:0.533	.	215	Q96E39	RBMXL_HUMAN	P	215	ENSP00000318415:S215P;ENSP00000446099:S215P	ENSP00000318415:S215P	S	-	1	0	RBMXL1	89221455	1.000000	0.71417	0.993000	0.49108	0.845000	0.48019	2.322000	0.43814	0.706000	0.31912	0.254000	0.18369	TCT		0.448	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		122	86	0	0	0	1	0	122	86				
PGGT1B	5229	broad.mit.edu	37	5	114573601	114573601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114573601C>A	ENST00000419445.1	-	4	453	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PGGT1B_ENST00000379615.3_Nonsense_Mutation_p.E145*	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	145					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		AAGCAAGCTTCTTTATTTACT	0.408																																						ENST00000419445.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(433-435)Gaa>Taa		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						76.0	81.0	79.0					5																	114573601		2202	4300	6502	SO:0001587	stop_gained	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114573601C>A		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.433G>T	5.37:g.114573601C>A	ENSP00000404676:p.Glu145*					PGGT1B_ENST00000379615.3_Nonsense_Mutation_p.E145*	p.E145*	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	4	453	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	145					Q5MJP9	Nonsense_Mutation	SNP	ENST00000419445.1	37	c.433G>T	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603016	0.96614	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	.	.	.	5.47	5.47	0.80525	.	0.202242	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-21.4672	19.6958	0.96026	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000368935:E145X	E	-	1	0	PGGT1B	114601500	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.045000	0.57368	2.721000	0.93114	0.655000	0.94253	GAA		0.408	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		13	109	1	0	2.31682e-05	1	2.60394e-05	13	109				
REV3L	5980	broad.mit.edu	37	6	111694798	111694798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111694798C>A	ENST00000358835.3	-	14	5214	c.4760G>T	c.(4759-4761)aGa>aTa	p.R1587I	REV3L_ENST00000368805.1_Missense_Mutation_p.R1587I|REV3L_ENST00000435970.1_Missense_Mutation_p.R1509I|REV3L_ENST00000368802.3_Missense_Mutation_p.R1587I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1587					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTGTACTTCTGGGAGTTCG	0.358								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4525-4527)aGa>aTa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							182.0	191.0	188.0					6																	111694798		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694798C>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4760G>T	6.37:g.111694798C>A	ENSP00000351697:p.Arg1587Ile					REV3L_ENST00000368805.1_Missense_Mutation_p.R1587I|REV3L_ENST00000358835.3_Missense_Mutation_p.R1587I|REV3L_ENST00000368802.3_Missense_Mutation_p.R1587I	p.R1509I			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5342	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1587					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4526G>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231384	0.58777	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02216	4.48;4.48;4.48;4.39	6.04	6.04	0.98038	Ribonuclease H-like (1);	0.185104	0.47093	D	0.000247	T	0.07683	0.0193	M	0.63843	1.955	0.54753	D	0.999985	D	0.76494	0.999	D	0.66196	0.942	T	0.06991	-1.0796	10	0.87932	D	0	-7.9041	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1587	O60673	DPOLZ_HUMAN	I	1587;1587;1587;1509	ENSP00000357792:R1587I;ENSP00000357795:R1587I;ENSP00000351697:R1587I;ENSP00000402003:R1509I	ENSP00000351697:R1587I	R	-	2	0	REV3L	111801491	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.316000	0.51960	2.873000	0.98535	0.563000	0.77884	AGA		0.358	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		9	290	1	0	3.07112e-06	1	3.52574e-06	9	290				
CAMSAP3	57662	broad.mit.edu	37	19	7677157	7677157	+	Missense_Mutation	SNP	C	C	T	rs201644239	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7677157C>T	ENST00000160298.4	+	11	1879	c.1778C>T	c.(1777-1779)cCg>cTg	p.P593L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.P620L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	593					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCGGCCCCGCCGGAGGCCCTG	0.637													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14956	0.0		0.0	False		,,,				2504	0.0					ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1858-1860)cCg>cTg		calmodulin regulated spectrin-associated protein family, member 3		C	LEU/PRO,LEU/PRO	2,3538		0,2,1768	5.0	6.0	6.0		1859,1778	2.9	0.0	19		6	0,7820		0,0,3910	no	missense,missense	CAMSAP3	NM_001080429.2,NM_020902.1	98,98	0,2,5678	TT,TC,CC		0.0,0.0565,0.0176	possibly-damaging,possibly-damaging	620/1277,593/1250	7677157	2,11358	1770	3910	5680	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677157C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1778C>T	19.37:g.7677157C>T	ENSP00000160298:p.Pro593Leu					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P593L	p.P620L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	1960	+			593					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1859C>T	CCDS42489.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	7.449	0.642357	0.14451	5.65E-4	0.0	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15834	2.39;2.39	3.96	2.9	0.33743	.	0.250839	0.34245	U	0.004139	T	0.14270	0.0345	L	0.34521	1.04	0.37052	D	0.897642	P;P	0.50443	0.916;0.935	B;B	0.42319	0.107;0.383	T	0.09357	-1.0678	10	0.56958	D	0.05	-10.5232	12.2455	0.54568	0.0:0.8259:0.1741:0.0	.	593;620	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	620;593	ENSP00000416797:P620L;ENSP00000160298:P593L	ENSP00000160298:P593L	P	+	2	0	KIAA1543	7583157	0.138000	0.22547	0.011000	0.14972	0.003000	0.03518	3.489000	0.53237	0.618000	0.30179	-0.333000	0.08304	CCG		0.637	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		5	4	0	0	0	1	0	5	4				
PPARA	5465	broad.mit.edu	37	22	46614215	46614215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46614215G>T	ENST00000396000.2	+	5	690	c.425G>T	c.(424-426)aGc>aTc	p.S142I	PPARA_ENST00000434345.2_Missense_Mutation_p.S142I|PPARA_ENST00000407236.1_Missense_Mutation_p.S142I|PPARA_ENST00000402126.1_Missense_Mutation_p.S142I|PPARA_ENST00000262735.5_Missense_Mutation_p.S142I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	142					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TGCGACCGCAGCTGCAAGATC	0.493																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(424-426)aGc>aTc		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						159.0	138.0	145.0					22																	46614215		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46614215G>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.425G>T	22.37:g.46614215G>T	ENSP00000379322:p.Ser142Ile					PPARA_ENST00000407236.1_Missense_Mutation_p.S142I|PPARA_ENST00000402126.1_Missense_Mutation_p.S142I|PPARA_ENST00000434345.2_Missense_Mutation_p.S142I|PPARA_ENST00000262735.5_Missense_Mutation_p.S142I	p.S142I			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	5	690	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	142					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.425G>T	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293898	0.40594	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.67	1.0	0.19881	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.407546	0.31507	N	0.007540	D	0.93413	0.7899	L	0.58925	1.835	0.27558	N	0.950261	B;B	0.23806	0.091;0.091	B;B	0.32583	0.148;0.148	D	0.87367	0.2348	10	0.52906	T	0.07	.	4.2397	0.10642	0.322:0.3153:0.3627:0.0	.	142;142	F1D8S4;Q07869	.;PPARA_HUMAN	I	142	ENSP00000379322:S142I;ENSP00000262735:S142I;ENSP00000385523:S142I;ENSP00000385246:S142I;ENSP00000408149:S142I	ENSP00000262735:S142I	S	+	2	0	PPARA	44992879	0.047000	0.20315	0.756000	0.31282	0.983000	0.72400	0.067000	0.14510	0.321000	0.23259	0.591000	0.81541	AGC		0.493	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		8	54	1	0	1.06961e-07	1	1.26574e-07	8	54				
CSMD2	114784	broad.mit.edu	37	1	34238175	34238175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34238175C>T	ENST00000338325.1	-	7	1077	c.665G>A	c.(664-666)tGc>tAc	p.C222Y	CSMD2_ENST00000373381.4_Missense_Mutation_p.C614Y			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	574	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACACACGCAGCCTGGCTT	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1840-1842)tGc>tAc		CUB and Sushi multiple domains 2							113.0	99.0	104.0					1																	34238175		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34238175C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.665G>A	1.37:g.34238175C>T	ENSP00000340311:p.Cys222Tyr					CSMD2_ENST00000338325.1_Missense_Mutation_p.C222Y	p.C614Y	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			13	2017	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	574			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1841G>A		.	.	.	.	.	.	.	.	.	.	C	29.2	4.985380	0.93044	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	D;D	0.99784	-6.74;-6.74	5.92	5.92	0.95590	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.99626	4.665	0.80722	D	1	D;D	0.60160	0.987;0.977	D;D	0.74674	0.984;0.954	D	0.96207	0.9150	10	0.87932	D	0	.	18.8845	0.92370	0.0:1.0:0.0:0.0	.	574;614	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Y	614;222	ENSP00000362479:C614Y;ENSP00000340311:C222Y	ENSP00000241312:C574Y	C	-	2	0	CSMD2	34010762	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.796000	0.85898	2.813000	0.96785	0.561000	0.74099	TGC		0.582	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		5	61	0	0	0	1	0	5	61				
CCSAP	126731	broad.mit.edu	37	1	229462700	229462700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229462700C>A	ENST00000366687.1	-	2	472	c.421G>T	c.(421-423)Gag>Tag	p.E141*	CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366686.1_Nonsense_Mutation_p.E27*|CCSAP_ENST00000284617.2_Nonsense_Mutation_p.E141*			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	141					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											TTGTCAGTCTCTCTTGTTCTG	0.403																																						ENST00000284617.2																			0											c.(421-423)Gag>Tag		centriole, cilia and spindle-associated protein							277.0	276.0	277.0					1																	229462700		2203	4300	6503	SO:0001587	stop_gained	126731							g.chr1:229462700C>A	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.421G>T	1.37:g.229462700C>A	ENSP00000355648:p.Glu141*					CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Nonsense_Mutation_p.E141*|CCSAP_ENST00000366686.1_Nonsense_Mutation_p.E27*	p.E141*	NM_145257.3	NP_660300.3					3	545	-								A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Nonsense_Mutation	SNP	ENST00000366687.1	37	c.421G>T	CCDS1577.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734445	0.48939	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	.	.	.	5.7	3.79	0.43588	.	0.746870	0.13291	N	0.398972	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-24.8022	7.1372	0.25535	0.0:0.7099:0.1415:0.1486	.	.	.	.	X	141;141;27	.	ENSP00000284617:E141X	E	-	1	0	C1orf96	227529323	0.770000	0.28543	0.006000	0.13384	0.002000	0.02628	0.791000	0.26915	0.733000	0.32492	-0.140000	0.14226	GAG		0.403	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		20	137	1	0	1.15919e-05	1	1.31461e-05	20	137				
HAS3	3038	broad.mit.edu	37	16	69143877	69143877	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143877G>T	ENST00000306560.1	+	2	735	c.579G>T	c.(577-579)aaG>aaT	p.K193N	HAS3_ENST00000569188.1_Missense_Mutation_p.K193N|HAS3_ENST00000219322.3_Missense_Mutation_p.K193N	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	193					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGGGAGGCAAGCGCGAGGTCA	0.627																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(577-579)aaG>aaT		hyaluronan synthase 3							79.0	63.0	68.0					16																	69143877		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143877G>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.579G>T	16.37:g.69143877G>T	ENSP00000304440:p.Lys193Asn					HAS3_ENST00000219322.3_Missense_Mutation_p.K193N|HAS3_ENST00000569188.1_Missense_Mutation_p.K193N	p.K193N	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	735	+		Ovarian(137;0.101)	193					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.579G>T	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759754	0.69763	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	D;T	0.87256	-2.23;-0.04	5.48	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.94833	0.8331	H	0.95402	3.665	0.49299	D	0.999777	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95272	0.8378	10	0.87932	D	0	-22.1627	11.4132	0.49937	0.1575:0.0:0.8425:0.0	.	193;193	O00219;O00219-2	HAS3_HUMAN;.	N	193	ENSP00000219322:K193N;ENSP00000304440:K193N	ENSP00000219322:K193N	K	+	3	2	HAS3	67701378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.351000	0.34022	2.593000	0.87608	0.561000	0.74099	AAG		0.627	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		4	31	1	0	0.00024832	1	0.0002712	4	31				
PCDHGB2	56103	broad.mit.edu	37	5	140740498	140740498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140740498G>A	ENST00000522605.1	+	1	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	266	Cadherin 3. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGTGACAGCCACCGACCG	0.507																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(796-798)Gcc>Acc									56.0	58.0	57.0					5																	140740498		2004	4168	6172	SO:0001583	missense	0							g.chr5:140740498G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.796G>A	5.37:g.140740498G>A	ENSP00000429018:p.Ala266Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A266T	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	796	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.796G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	15.97	2.988879	0.53934	.	.	ENSG00000253910	ENST00000522605	T	0.61392	0.11	5.54	4.67	0.58626	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.83459	0.5259	H	0.96996	3.92	0.37806	D	0.927883	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90501	0.4474	9	0.87932	D	0	.	14.3278	0.66532	0.0722:0.0:0.9278:0.0	.	266;266	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	T	266	ENSP00000429018:A266T	ENSP00000429018:A266T	A	+	1	0	PCDHGB2	140720682	1.000000	0.71417	0.839000	0.33178	0.011000	0.07611	7.774000	0.85478	1.474000	0.48178	0.655000	0.94253	GCC		0.507	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		22	18	0	0	0	1	0	22	18				
SYNJ2	8871	broad.mit.edu	37	6	158490681	158490681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158490681G>A	ENST00000355585.4	+	14	1991	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R639H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R639H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	639					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTTTGTACGTCCATACCAT	0.458																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1915-1917)cGt>cAt		synaptojanin 2							161.0	147.0	152.0					6																	158490681		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158490681G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1916G>A	6.37:g.158490681G>A	ENSP00000347792:p.Arg639His					SYNJ2_ENST00000367122.2_Missense_Mutation_p.R639H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R639H	p.R639H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	14	1991	+			639					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1916G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484248	0.96307	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.84589	-1.87;-1.87;-1.87	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000012	D	0.91623	0.7353	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.90771	0.4672	10	0.87932	D	0	.	19.3673	0.94469	0.0:0.0:1.0:0.0	.	639;639	O15056;O15056-3	SYNJ2_HUMAN;.	H	639	ENSP00000356089:R639H;ENSP00000356088:R639H;ENSP00000347792:R639H	ENSP00000347792:R639H	R	+	2	0	SYNJ2	158410669	1.000000	0.71417	0.863000	0.33907	0.992000	0.81027	9.595000	0.98260	-0.135000	0.11495	0.529000	0.55759	CGT		0.458	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			21	25	0	0	0	1	0	21	25				
RALGPS2	55103	broad.mit.edu	37	1	178875981	178875981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178875981C>T	ENST00000367635.3	+	19	2039	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	RALGPS2_ENST00000367634.2_Silent_p.A541A	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	567	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAGTGCAGCCTGCCAAAGTA	0.348																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1699-1701)gcC>gcT		Ral GEF with PH domain and SH3 binding motif 2							98.0	94.0	96.0					1																	178875981		2203	4300	6503	SO:0001819	synonymous_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178875981C>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1701C>T	1.37:g.178875981C>T						RALGPS2_ENST00000367634.2_Silent_p.A541A|RALGPS2_ENST00000324778.4_Silent_p.A532A	p.A567A	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			19	2039	+			567			PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	ENST00000367635.3	37	c.1701C>T	CCDS1325.1																																																																																				0.348	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		6	51	0	0	0	1	0	6	51				
C4A	720	broad.mit.edu	37	6	31964364	31964364	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31964364C>T	ENST00000428956.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4A_ENST00000498271.1_Silent_p.A1221A	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1221					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TGGCAATGGCCCAGGAGACTG	0.642																																						ENST00000428956.2																			0											c.(3661-3663)gcC>gcT		complement component 4A (Rodgers blood group)							61.0	69.0	67.0					6																	31964364		1552	3539	5091	SO:0001819	synonymous_variant	720							g.chr6:31964364C>T	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3663C>T	6.37:g.31964364C>T						C4A_ENST00000498271.1_Silent_p.A1221A	p.A1221A	NM_007293.2	NP_009224.2					28	3747	+								A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000428956.2	37	c.3663C>T	CCDS47404.1																																																																																				0.642	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		10	37	0	0	0	1	0	10	37				
LAMC1	3915	broad.mit.edu	37	1	183072602	183072602	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183072602C>T	ENST00000258341.4	+	2	815	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	186	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGAACACCTACTCCAAGGCAA	0.567																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(556-558)taC>taT		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						87.0	78.0	81.0					1																	183072602		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183072602C>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.558C>T	1.37:g.183072602C>T							p.Y186Y	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			2	815	+			186			Laminin N-terminal.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.558C>T	CCDS1351.1																																																																																				0.567	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		7	84	0	0	0	1	0	7	84				
SLK	9748	broad.mit.edu	37	10	105765355	105765355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105765355C>T	ENST00000369755.3	+	10	2931	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C	SLK_ENST00000335753.4_Missense_Mutation_p.R796C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	796					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAAAACACGCAAATTTAT	0.333																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(2386-2388)Cgc>Tgc		STE20-like kinase							88.0	86.0	87.0					10																	105765355		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105765355C>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2386C>T	10.37:g.105765355C>T	ENSP00000358770:p.Arg796Cys					SLK_ENST00000335753.4_Missense_Mutation_p.R796C	p.R796C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	10	2931	+		Colorectal(252;0.178)	796					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.2386C>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369221	0.82463	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	D;D	0.94184	-3.37;-3.17	5.46	4.52	0.55395	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97087	0.9788	10	0.87932	D	0	.	15.7838	0.78286	0.1365:0.8635:0.0:0.0	.	796;796	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	C	796	ENSP00000336824:R796C;ENSP00000358770:R796C	ENSP00000336824:R796C	R	+	1	0	SLK	105755345	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.044000	0.49830	2.847000	0.97988	0.591000	0.81541	CGC		0.333	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		29	38	0	0	0	1	0	29	38				
CNTN3	5067	broad.mit.edu	37	3	74347325	74347325	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74347325T>C	ENST00000263665.6	-	17	2211	c.2184A>G	c.(2182-2184)ctA>ctG	p.L728L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	728	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACCATTCTGTAGTTCTTCAG	0.463																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2182-2184)ctA>ctG		contactin 3 (plasmacytoma associated)							125.0	122.0	123.0					3																	74347325		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74347325T>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2184A>G	3.37:g.74347325T>C							p.L728L	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	17	2211	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	728			Fibronectin type-III 2.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2184A>G	CCDS33790.1																																																																																				0.463	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		18	12	0	0	0	1	0	18	12				
UGT2B4	7363	broad.mit.edu	37	4	70361517	70361517	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361517C>T	ENST00000305107.6	-	1	109	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.G21G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	21					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTCCACAACTCCCAGAGCTAA	0.468																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(61-63)ggG>ggA		UDP glucuronosyltransferase 2 family, polypeptide B4							153.0	153.0	153.0					4																	70361517		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361517C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.63G>A	4.37:g.70361517C>T						UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.G21G	p.G21G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	109	-			21					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.63G>A	CCDS43234.1																																																																																				0.468	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		66	122	0	0	0	1	0	66	122				
FNBP1	23048	broad.mit.edu	37	9	132719709	132719709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132719709G>A	ENST00000446176.2	-	6	629	c.443C>T	c.(442-444)gCg>gTg	p.A148V	FNBP1_ENST00000355681.3_Missense_Mutation_p.A148V|FNBP1_ENST00000420781.1_Missense_Mutation_p.A148V	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	148	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CGCCCTGTCCGCCTCTTTGCA	0.428			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(442-444)gCg>gTg		formin binding protein 1							107.0	103.0	104.0					9																	132719709		2032	4187	6219	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132719709G>A	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.443C>T	9.37:g.132719709G>A	ENSP00000413625:p.Ala148Val					FNBP1_ENST00000355681.3_Missense_Mutation_p.A148V|FNBP1_ENST00000446176.2_Missense_Mutation_p.A148V	p.A148V			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	6	661	-		Ovarian(14;0.000536)	148			Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.443C>T	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.233426|5.233426	0.95207|0.95207	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681|ENST00000449089	T;T;T|.	0.20069|.	2.1;2.1;2.1|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78194|0.78194	0.4245|0.4245	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;P|.	0.79784|.	0.976;0.983;0.91;0.993;0.973;0.989;0.898|.	T|T	0.79593|0.79593	-0.1739|-0.1739	10|5	0.87932|.	D|.	0|.	-22.0039|-22.0039	17.3082|17.3082	0.87201|0.87201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	148;148;148;148;109;148;148|.	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;FNBP1_HUMAN|.	V|W	148|110	ENSP00000413625:A148V;ENSP00000407548:A148V;ENSP00000347907:A148V|.	ENSP00000347907:A148V|.	A|R	-|-	2|1	0|2	FNBP1|FNBP1	131759530|131759530	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.918000|0.918000	0.54935|0.54935	9.361000|9.361000	0.97122|0.97122	2.434000|2.434000	0.82447|0.82447	0.479000|0.479000	0.44913|0.44913	GCG|CGG		0.428	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			17	17	0	0	0	1	0	17	17				
ARID1B	57492	broad.mit.edu	37	6	157454310	157454310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157454310C>T	ENST00000350026.5	+	7	2482	c.2481C>T	c.(2479-2481)taC>taT	p.Y827Y	ARID1B_ENST00000275248.4_Silent_p.Y769Y|ARID1B_ENST00000367148.1_Silent_p.Y827Y|ARID1B_ENST00000346085.5_Silent_p.Y840Y	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	827					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGGGACTTACGGTCCACAGA	0.478																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2518-2520)taC>taT		AT rich interactive domain 1B (SWI1-like)							73.0	63.0	66.0					6																	157454310		2203	4300	6503	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157454310C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2481C>T	6.37:g.157454310C>T						ARID1B_ENST00000350026.5_Silent_p.Y827Y|ARID1B_ENST00000275248.4_Silent_p.Y769Y|ARID1B_ENST00000367148.1_Silent_p.Y827Y	p.Y840Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2521	+		Breast(66;0.000162)|Ovarian(120;0.0265)	827					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.2520C>T	CCDS5251.2																																																																																				0.478	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		11	23	0	0	0	1	0	11	23				
OR4M2	390538	broad.mit.edu	37	15	22368619	22368619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22368619C>A	ENST00000332663.2	+	1	142	c.44C>A	c.(43-45)aCt>aAt	p.T15N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTGTTCTCACTGGCCTATCC	0.338																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(43-45)aCt>aAt		olfactory receptor, family 4, subfamily M, member 2							249.0	220.0	230.0					15																	22368619		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368619C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.44C>A	15.37:g.22368619C>A	ENSP00000329467:p.Thr15Asn					RP11-69H14.6_ENST00000558896.1_RNA	p.T15N	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	142	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	15					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.44C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.383840	0.25031	.	.	ENSG00000182974	ENST00000332663	T	0.00438	7.42	2.5	1.56	0.23342	.	0.000000	0.48767	D	0.000177	T	0.00412	0.0013	L	0.38175	1.15	0.27893	N	0.93928	D	0.56968	0.978	P	0.53722	0.733	T	0.53878	-0.8376	10	0.87932	D	0	-9.8311	4.7357	0.12986	0.0:0.6842:0.0:0.3158	.	15	Q8NGB6	OR4M2_HUMAN	N	15	ENSP00000329467:T15N	ENSP00000329467:T15N	T	+	2	0	OR4M2	19869983	0.002000	0.14202	0.999000	0.59377	0.513000	0.34164	0.003000	0.13083	0.399000	0.25367	-0.406000	0.06334	ACT		0.338	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			69	97	1	0	6.72169e-28	1	8.9774e-28	69	97				
ART5	116969	broad.mit.edu	37	11	3660958	3660958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3660958C>A	ENST00000397068.3	-	2	1093	c.701G>T	c.(700-702)aGa>aTa	p.R234I	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Missense_Mutation_p.R234I	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	234					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGAGAATCTGGTAACCAA	0.512																																						ENST00000397068.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(700-702)aGa>aTa		ADP-ribosyltransferase 5							71.0	83.0	79.0					11																	3660958		2201	4298	6499	SO:0001583	missense	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660958C>A	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.701G>T	11.37:g.3660958C>A	ENSP00000380258:p.Arg234Ile					ART5_ENST00000359918.4_Missense_Mutation_p.R234I|ART5_ENST00000397067.3_Intron	p.R234I	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1093	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	234					C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	c.701G>T	CCDS7743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.83|10.83	1.460252|1.460252	0.26248|0.26248	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000453353|ENST00000397068;ENST00000359918;ENST00000425767	.|T;T;T	.|0.08370	.|3.1;3.1;3.1	6.17|6.17	3.29|3.29	0.37713|0.37713	.|.	.|0.752485	.|0.13600	.|N	.|0.375917	T|T	0.09862|0.09862	0.0242|0.0242	L|L	0.38175|0.38175	1.15|1.15	0.33036|0.33036	D|D	0.530783|0.530783	.|P	.|0.38677	.|0.642	.|P	.|0.44359	.|0.447	T|T	0.12708|0.12708	-1.0537|-1.0537	5|10	.|0.49607	.|T	.|0.09	-1.6353|-1.6353	7.5337|7.5337	0.27697|0.27697	0.0:0.705:0.0:0.295|0.0:0.705:0.0:0.295	.|.	.|234	.|Q96L15	.|NAR5_HUMAN	H|I	190|234;234;115	.|ENSP00000380258:R234I;ENSP00000352992:R234I;ENSP00000413852:R115I	.|ENSP00000352992:R234I	Q|R	-|-	3|2	2|0	ART5|ART5	3617534|3617534	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.309000|0.309000	0.27889|0.27889	-0.282000|-0.282000	0.08445|0.08445	1.621000|1.621000	0.50320|0.50320	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.512	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		11	122	1	0	0.00010058	1	0.000111121	11	122				
ZNF85	7639	broad.mit.edu	37	19	21131860	21131860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131860C>T	ENST00000328178.8	+	4	653	c.540C>T	c.(538-540)ggC>ggT	p.G180G	ZNF85_ENST00000345030.6_Silent_p.G147G|ZNF85_ENST00000601023.1_Silent_p.G121G	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	180					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAAATGTGGCAAATCATTTG	0.303																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(361-363)ggC>ggT		zinc finger protein 85							50.0	56.0	54.0					19																	21131860		2201	4298	6499	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131860C>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.540C>T	19.37:g.21131860C>T						ZNF85_ENST00000328178.8_Silent_p.G180G|ZNF85_ENST00000345030.6_Silent_p.G147G	p.G121G			Q03923	ZNF85_HUMAN			2	1009	+			180					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.363C>T	CCDS32977.1																																																																																				0.303	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		17	51	0	0	0	1	0	17	51				
PTGDS	5730	broad.mit.edu	37	9	139873514	139873514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139873514T>C	ENST00000371625.3	+	2	258	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000224167.2_Silent_p.L62L|RP11-229P13.19_ENST00000413913.2_RNA	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	62					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGGCGGCGTTGTCCATGTG	0.687																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(184-186)Ttg>Ctg		prostaglandin D2 synthase 21kDa (brain)							64.0	64.0	64.0					9																	139873514		2203	4299	6502	SO:0001819	synonymous_variant	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873514T>C	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.184T>C	9.37:g.139873514T>C						PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Silent_p.L62L	p.L62L			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	259	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	62					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Silent	SNP	ENST00000371625.3	37	c.184T>C	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	t	12.92	2.081219	0.36758	.	.	ENSG00000107317	ENST00000446677	.	.	.	3.61	-4.09	0.03951	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.35883	D	0.829097	.	.	.	.	.	.	T	0.45818	-0.9235	4	.	.	.	-4.13	6.3601	0.21422	0.5508:0.2857:0.0:0.1635	.	.	.	.	A	84	.	.	V	+	2	0	PTGDS	138993335	0.000000	0.05858	0.011000	0.14972	0.661000	0.39034	-1.675000	0.01947	-1.041000	0.03266	-0.411000	0.06167	GTT		0.687	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		4	35	0	0	0	1	0	4	35				
ITFG2	55846	broad.mit.edu	37	12	2931989	2931989	+	Silent	SNP	C	C	T	rs61744187	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2931989C>T	ENST00000228799.2	+	10	1117	c.978C>T	c.(976-978)tgC>tgT	p.C326C	ITFG2_ENST00000419778.2_Silent_p.C149C|ITFG2_ENST00000542548.1_Silent_p.C214C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	326					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TAGTTGCATGCGCCTGGGATG	0.522																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(976-978)tgC>tgT		integrin alpha FG-GAP repeat containing 2		C		1,4405	2.1+/-5.4	0,1,2202	144.0	115.0	125.0		978	2.5	1.0	12	dbSNP_129	125	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	ITFG2	NM_018463.3		0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615		326/448	2931989	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	55846							g.chr12:2931989C>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.978C>T	12.37:g.2931989C>T						ITFG2_ENST00000542548.1_Silent_p.C214C|ITFG2_ENST00000419778.2_Silent_p.C149C	p.C326C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		10	1117	+			326					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	37	c.978C>T	CCDS8513.1																																																																																				0.522	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		16	39	0	0	0	1	0	16	39				
PTPRN2	5799	broad.mit.edu	37	7	157370773	157370773	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370773G>A	ENST00000389418.4	-	18	2565	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G	PTPRN2_ENST00000404321.2_Silent_p.G875G|PTPRN2_ENST00000389416.4_Silent_p.G835G|PTPRN2_ENST00000409483.1_Silent_p.G814G|PTPRN2_ENST00000389413.3_Silent_p.G823G	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	852	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTGCCGGACGCCGTTCTCCG	0.632																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(2467-2469)ggC>ggT		protein tyrosine phosphatase, receptor type, N polypeptide 2							85.0	69.0	75.0					7																	157370773		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157370773G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2556C>T	7.37:g.157370773G>A						PTPRN2_ENST00000409483.1_Silent_p.G814G|PTPRN2_ENST00000389418.4_Silent_p.G852G|PTPRN2_ENST00000404321.2_Silent_p.G875G|PTPRN2_ENST00000389416.4_Silent_p.G835G	p.G823G	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2572	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	852			Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.2469C>T	CCDS5947.1																																																																																				0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			35	28	0	0	0	1	0	35	28				
MFAP1	4236	broad.mit.edu	37	15	44105185	44105185	+	Splice_Site	SNP	G	G	A	rs377106172		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105185G>A	ENST00000267812.3	-	6	1119	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	296					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTTTACTCACGCTTCTCGATC	0.423																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.e6+1		microfibrillar-associated protein 1		G	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	329.0	317.0	321.0		887	5.1	1.0	15		321	0,8596		0,0,4298	no	missense-near-splice	MFAP1	NM_005926.2	64	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	296/440	44105185	1,12991	2198	4298	6496	SO:0001630	splice_region_variant	4236					microfibril		g.chr15:44105185G>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.887+1C>T	15.37:g.44105185G>A							p.A296_splice	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	6	1119	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	296					Q86TG6	Splice_Site	SNP	ENST00000267812.3	37	c.887_splice	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021291	0.75275	2.27E-4	0.0	ENSG00000140259	ENST00000267812	.	.	.	5.08	5.08	0.68730	.	0.320832	0.31747	N	0.007121	T	0.65228	0.2671	M	0.80028	2.48	0.51012	D	0.9999	D	0.53312	0.959	P	0.46320	0.512	T	0.69727	-0.5067	8	.	.	.	-15.6741	15.6948	0.77488	0.0:0.0:1.0:0.0	.	296	P55081	MFAP1_HUMAN	V	296	.	.	A	-	2	0	MFAP1	41892477	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.961000	0.63681	2.793000	0.96121	0.655000	0.94253	GCG		0.423	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926	Missense_Mutation	130	201	0	0	0	1	0	130	201				
TRMT2B	79979	broad.mit.edu	37	X	100274325	100274325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100274325C>A	ENST00000372936.3	-	12	2008	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	TRMT2B_ENST00000545398.1_Missense_Mutation_p.K412N|TRMT2B_ENST00000372939.1_Missense_Mutation_p.K367N|TRMT2B_ENST00000338687.7_Missense_Mutation_p.K367N|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K412N|TRMT2B_ENST00000372931.5_Missense_Mutation_p.K412N	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	412						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GTCCATCTTCCTTTGACTTTA	0.468																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1099-1101)aaG>aaT		tRNA methyltransferase 2 homolog B (S. cerevisiae)							144.0	108.0	120.0					X																	100274325		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100274325C>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1236G>T	X.37:g.100274325C>A	ENSP00000362027:p.Lys412Asn					TRMT2B_ENST00000372939.1_Missense_Mutation_p.K367N|TRMT2B_ENST00000372936.3_Missense_Mutation_p.K412N|TRMT2B_ENST00000545398.1_Missense_Mutation_p.K412N|TRMT2B_ENST00000372931.5_Missense_Mutation_p.K412N|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K412N	p.K367N			Q96GJ1	TRM2_HUMAN			11	1906	-			412					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.1101G>T	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488712	0.26686	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.17	5.17	0.71159	.	2.608710	0.01228	N	0.008271	T	0.28764	0.0713	N	0.22421	0.69	0.32264	N	0.56974	B;B;B	0.32338	0.365;0.244;0.148	B;B;B	0.41135	0.103;0.348;0.21	T	0.19712	-1.0297	10	0.45353	T	0.12	-18.9659	9.1069	0.36703	0.0:0.8978:0.0:0.1022	.	367;412;412	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	N	367;412;367;412;412;412	ENSP00000340970:K367N;ENSP00000438134:K412N;ENSP00000362030:K367N;ENSP00000362026:K412N;ENSP00000362027:K412N;ENSP00000362022:K412N	ENSP00000340970:K367N	K	-	3	2	TRMT2B	100160981	0.970000	0.33590	0.995000	0.50966	0.390000	0.30446	1.976000	0.40579	2.308000	0.77769	0.600000	0.82982	AAG		0.468	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		25	34	1	0	5.45024e-15	1	6.98109e-15	25	34				
USP20	10868	broad.mit.edu	37	9	132630508	132630508	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132630508G>A	ENST00000315480.4	+	11	1073	c.915G>A	c.(913-915)tcG>tcA	p.S305S	USP20_ENST00000358355.1_Silent_p.S305S|USP20_ENST00000372429.3_Silent_p.S305S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	305	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGGCAGCTCGCAGGCCGAGA	0.657																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(913-915)tcG>tcA		ubiquitin specific peptidase 20							42.0	53.0	49.0					9																	132630508		2074	4200	6274	SO:0001819	synonymous_variant	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630508G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.915G>A	9.37:g.132630508G>A						USP20_ENST00000358355.1_Silent_p.S305S|USP20_ENST00000372429.3_Silent_p.S305S	p.S305S			Q9Y2K6	UBP20_HUMAN			11	1073	+		Ovarian(14;0.00556)	305					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.915G>A	CCDS43892.1																																																																																				0.657	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			15	27	0	0	0	1	0	15	27				
TRIP11	9321	broad.mit.edu	37	14	92470569	92470569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92470569C>A	ENST00000267622.4	-	11	4124	c.3751G>T	c.(3751-3753)Gca>Tca	p.A1251S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1251					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAACCTGTGCTTGAAGTTGG	0.398			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3751-3753)Gca>Tca		thyroid hormone receptor interactor 11							76.0	64.0	68.0					14																	92470569		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470569C>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3751G>T	14.37:g.92470569C>A	ENSP00000267622:p.Ala1251Ser						p.A1251S	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4124	-			1251					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3751G>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.01|10.01	1.234507|1.234507	0.22626|0.22626	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04156|.	3.69|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.123818|.	0.52532|.	D|.	0.000075|.	T|T	0.42494|0.42494	0.1205|0.1205	N|N	0.14661|0.14661	0.345|0.345	0.37237|0.37237	D|D	0.905946|0.905946	P;P|.	0.44281|.	0.759;0.831|.	B;B|.	0.38880|.	0.256;0.284|.	T|T	0.45629|0.45629	-0.9248|-0.9248	10|5	0.26408|.	T|.	0.33|.	.|.	14.0949|14.0949	0.65013|0.65013	0.0:0.9252:0.0:0.0748|0.0:0.9252:0.0:0.0748	.|.	987;1251|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	S|I	1251;987|966	ENSP00000267622:A1251S|.	ENSP00000267622:A1251S|.	A|S	-|-	1|2	0|0	TRIP11|TRIP11	91540322|91540322	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.206000|0.206000	0.24218|0.24218	2.638000|2.638000	0.46562|0.46562	2.432000|2.432000	0.82394|0.82394	0.455000|0.455000	0.32223|0.32223	GCA|AGC		0.398	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			29	33	1	0	1.74807e-11	1	2.18057e-11	29	33				
GRIK4	2900	broad.mit.edu	37	11	120776053	120776053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776053C>T	ENST00000527524.2	+	13	1614	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	GRIK4_ENST00000438375.2_Missense_Mutation_p.R443C	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	443					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AGGCAATGACCGCTACGAGGG	0.542																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1327-1329)Cgc>Tgc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						195.0	191.0	192.0					11																	120776053		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776053C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1327C>T	11.37:g.120776053C>T	ENSP00000435648:p.Arg443Cys					GRIK4_ENST00000438375.2_Missense_Mutation_p.R443C	p.R443C			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1614	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	443					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1327C>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058785	0.93846	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.77358	-1.09;-1.09	5.47	5.47	0.80525	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	D	0.87618	0.2508	10	0.87932	D	0	.	19.323	0.94250	0.0:1.0:0.0:0.0	.	443;443	A6H8K8;Q16099	.;GRIK4_HUMAN	C	443	ENSP00000435648:R443C;ENSP00000404063:R443C	ENSP00000404063:R443C	R	+	1	0	GRIK4	120281263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.561000	0.86390	0.655000	0.94253	CGC		0.542	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		82	131	0	0	0	1	0	82	131				
PER2	8864	broad.mit.edu	37	2	239180112	239180112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239180112G>A	ENST00000254657.3	-	6	892	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	PER2_ENST00000355768.2_Silent_p.L205L|PER2_ENST00000440245.1_Silent_p.L205L|PER2_ENST00000254658.3_Silent_p.L205L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	205	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGATGTACAGGATCTTCCCA	0.527																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(613-615)Ctg>Ttg		period circadian clock 2							101.0	95.0	97.0					2																	239180112		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239180112G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.613C>T	2.37:g.239180112G>A						PER2_ENST00000440245.1_Silent_p.L205L|PER2_ENST00000355768.2_Silent_p.L205L|PER2_ENST00000254658.3_Silent_p.L205L	p.L205L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	6	892	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	205			PAS 1.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.613C>T	CCDS2528.1																																																																																				0.527	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		3	31	0	0	0	1	0	3	31				
SLC39A6	25800	broad.mit.edu	37	18	33704581	33704581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33704581C>T	ENST00000590986.1	-	3	1161	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	SLC39A6_ENST00000440549.2_Missense_Mutation_p.C16Y|SLC39A6_ENST00000269187.5_Missense_Mutation_p.C291Y			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	291					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GATGGCTGGACAGAGATAGTT	0.413																																						ENST00000269187.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						c.(871-873)tGt>tAt		solute carrier family 39 (zinc transporter), member 6							140.0	127.0	131.0					18																	33704581		1928	4147	6075	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33704581C>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.872G>A	18.37:g.33704581C>T	ENSP00000465915:p.Cys291Tyr					SLC39A6_ENST00000440549.2_Missense_Mutation_p.C16Y|SLC39A6_ENST00000590986.1_Missense_Mutation_p.C291Y	p.C291Y	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN			3	1085	-			291					B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.872G>A	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175787	0.78564	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;D	0.83992	1.91;-1.79	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.982;0.997	D	0.91260	0.5036	10	0.87932	D	0	-9.1405	16.8263	0.85933	0.0:1.0:0.0:0.0	.	291;16	Q13433;Q13433-2	S39A6_HUMAN;.	Y	291;16;16	ENSP00000269187:C291Y;ENSP00000401139:C16Y	ENSP00000269187:C291Y	C	-	2	0	SLC39A6	31958579	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.273000	0.78527	2.642000	0.89623	0.462000	0.41574	TGT		0.413	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			38	50	0	0	0	1	0	38	50				
MFSD2B	388931	broad.mit.edu	37	2	24239760	24239760	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24239760G>A	ENST00000406420.3	+	4	409	c.393G>A	c.(391-393)ctG>ctA	p.L131L	MFSD2B_ENST00000338315.4_Silent_p.L131L	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	131					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTTCTTCCTGTGGTTCCTGC	0.662																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(391-393)ctG>ctA		major facilitator superfamily domain containing 2B							62.0	68.0	66.0					2																	24239760		2061	4184	6245	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24239760G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.393G>A	2.37:g.24239760G>A						MFSD2B_ENST00000406420.3_Silent_p.L131L	p.L131L			A6NFX1	MFS2B_HUMAN			4	393	+			131					B5MC32	Silent	SNP	ENST00000406420.3	37	c.393G>A	CCDS46228.1																																																																																				0.662	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		4	37	0	0	0	1	0	4	37				
TOB2	10766	broad.mit.edu	37	22	41833168	41833168	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41833168C>A	ENST00000327492.3	-	2	888	c.182G>T	c.(181-183)gGg>gTg	p.G61V		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	61					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CACCATCTCCCCAATGTGAAC	0.577																																						ENST00000327492.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(181-183)gGg>gTg		transducer of ERBB2, 2							47.0	44.0	45.0					22																	41833168		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41833168C>A	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.182G>T	22.37:g.41833168C>A	ENSP00000331305:p.Gly61Val						p.G61V	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	888	-			61					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.182G>T	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345636	0.82022	.	.	ENSG00000183864	ENST00000327492;ENST00000434408	T	0.50813	0.73	5.82	5.82	0.92795	Anti-proliferative protein (3);	0.059038	0.64402	D	0.000002	T	0.68677	0.3027	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69316	-0.5177	10	0.87932	D	0	.	20.0893	0.97812	0.0:1.0:0.0:0.0	.	61	Q14106	TOB2_HUMAN	V	61	ENSP00000331305:G61V	ENSP00000331305:G61V	G	-	2	0	TOB2	40163114	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.761000	0.94854	0.655000	0.94253	GGG		0.577	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		6	43	1	0	0.0293803	1	0.0301098	6	43				
SLC7A1	6541	broad.mit.edu	37	13	30110258	30110258	+	Missense_Mutation	SNP	C	C	T	rs200608225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30110258C>T	ENST00000380752.5	-	3	454	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	23				R -> P (in Ref. 2; CAA40560). {ECO:0000305}.	amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTCTCCTCCCGGCTACAGTC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19439	0.0		0.0	False		,,,				2504	0.001					ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(67-69)cGg>cAg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						57.0	61.0	60.0					13																	30110258		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30110258C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.68G>A	13.37:g.30110258C>T	ENSP00000370128:p.Arg23Gln						p.R23Q	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	3	454	-		Lung SC(185;0.0257)|Breast(139;0.238)	23	R -> P (in Ref. 2; CAA40560).				Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.68G>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135716	0.37728	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.87650	-2.04;-2.28	4.82	4.82	0.62117	.	0.203430	0.41001	D	0.000964	T	0.79753	0.4500	L	0.31664	0.95	0.38172	D	0.939367	B	0.28605	0.217	B	0.25614	0.062	T	0.77011	-0.2746	10	0.15066	T	0.55	.	17.0677	0.86563	0.0:1.0:0.0:0.0	.	23	P30825	CTR1_HUMAN	Q	23	ENSP00000370128:R23Q;ENSP00000390092:R23Q	ENSP00000370128:R23Q	R	-	2	0	SLC7A1	29008258	0.995000	0.38212	1.000000	0.80357	0.821000	0.46438	2.952000	0.49097	2.504000	0.84457	0.655000	0.94253	CGG		0.587	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		18	29	0	0	0	1	0	18	29				
PLEKHG5	57449	broad.mit.edu	37	1	6532586	6532586	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6532586C>T	ENST00000400915.3	-	11	1315		c.e11+1		PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000377748.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTACTCACGTTGATGATC	0.642																																						ENST00000377748.1																			0				liver(1)	1						c.e11+1		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							50.0	43.0	45.0					1																	6532586		2203	4300	6503	SO:0001630	splice_region_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6532586C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1248+1G>A	1.37:g.6532586C>T						PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site		NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	11	1809	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)						B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Splice_Site	SNP	ENST00000400915.3	37		CCDS41241.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581974	0.46006	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8907	0.79296	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLEKHG5	6455173	0.998000	0.40836	1.000000	0.80357	0.255000	0.26057	3.547000	0.53663	2.347000	0.79759	0.462000	0.41574	.		0.642	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	Intron	3	17	0	0	0	1	0	3	17				
ABCC3	8714	broad.mit.edu	37	17	48761033	48761033	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761033G>T	ENST00000285238.8	+	27	3950	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1290					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGGAGGTGGAGTTCCGGAATT	0.662																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3868-3870)gaG>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						108.0	97.0	101.0					17																	48761033		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48761033G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3870G>T	17.37:g.48761033G>T	ENSP00000285238:p.Glu1290Asp						p.E1290D	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		27	3950	+			1290					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3870G>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	g	19.07	3.755401	0.69648	.	.	ENSG00000108846	ENST00000285238	D	0.91124	-2.79	5.94	4.98	0.66077	.	0.054621	0.64402	D	0.000001	D	0.90345	0.6979	L	0.49126	1.545	0.80722	D	1	D	0.58268	0.982	P	0.52793	0.709	D	0.89817	0.3986	10	0.52906	T	0.07	-19.7954	9.6016	0.39607	0.2089:0.0:0.7911:0.0	.	1290	O15438	MRP3_HUMAN	D	1290	ENSP00000285238:E1290D	ENSP00000285238:E1290D	E	+	3	2	ABCC3	46116032	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	2.923000	0.48868	1.530000	0.49136	-0.142000	0.14014	GAG		0.662	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		4	32	1	0	2.56e-06	1	2.9446e-06	4	32				
SIPA1L1	26037	broad.mit.edu	37	14	72128039	72128039	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72128039C>T	ENST00000555818.1	+	7	2458	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R704W|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R179W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R704W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	704	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGAGGAAGCGGCACATTGG	0.423																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(2110-2112)Cgg>Tgg		signal-induced proliferation-associated 1 like 1							103.0	95.0	97.0					14																	72128039		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72128039C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2110C>T	14.37:g.72128039C>T	ENSP00000450832:p.Arg704Trp					SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R179W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R704W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R704W	p.R704W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	7	2458	+			704			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2110C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369644	0.82573	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21	5.87	3.84	0.44239	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98887	0.9623	H	0.98646	4.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.998	D	0.99445	1.0939	10	0.87932	D	0	-20.9863	15.2246	0.73342	0.2927:0.7073:0.0:0.0	.	179;704;179;704;704	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	W	704;704;704;179;220	ENSP00000370630:R704W;ENSP00000450832:R704W;ENSP00000351352:R704W;ENSP00000440682:R179W;ENSP00000452450:R220W	ENSP00000351352:R704W	R	+	1	2	SIPA1L1	71197792	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.569000	0.45973	1.449000	0.47699	0.655000	0.94253	CGG		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	29	0	0	0	1	0	14	29				
CFAP43	80217	broad.mit.edu	37	10	105912435	105912435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105912435G>A	ENST00000357060.3	-	28	3705	c.3590C>T	c.(3589-3591)aCa>aTa	p.T1197I	WDR96_ENST00000428666.1_Missense_Mutation_p.T1198I	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGGCCTGTGTGCTTTCTTG	0.338																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3589-3591)aCa>aTa		WD repeat domain 96							125.0	124.0	125.0					10																	105912435		2202	4300	6502	SO:0001583	missense	80217							g.chr10:105912435G>A																												ENST00000357060.3:c.3590C>T	10.37:g.105912435G>A	ENSP00000349568:p.Thr1197Ile					WDR96_ENST00000428666.1_Missense_Mutation_p.T1198I	p.T1197I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			28	3705	-			1197						Missense_Mutation	SNP	ENST00000357060.3	37	c.3590C>T	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.79|18.79	3.698085|3.698085	0.68386|0.68386	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000457071;ENST00000434629|ENST00000357060;ENST00000428666	.|T;T	.|0.11930	.|2.73;2.75	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22513|0.22513	0.0543|0.0543	L|L	0.45228|0.45228	1.405|1.405	0.58432|0.58432	D|D	0.999994|0.999994	.|B;D	.|0.53151	.|0.328;0.958	.|B;P	.|0.56163	.|0.237;0.793	T|T	0.01397|0.01397	-1.1365|-1.1365	5|10	.|0.09084	.|T	.|0.74	.|.	17.2956|17.2956	0.87170|0.87170	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1198;1197	.|G5E9L1;Q8NDM7	.|.;WDR96_HUMAN	Y|I	46;558|1197;1198	.|ENSP00000349568:T1197I;ENSP00000400289:T1198I	.|ENSP00000349568:T1197I	H|T	-|-	1|2	0|0	WDR96|WDR96	105902425|105902425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	7.730000|7.730000	0.84881|0.84881	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CAC|ACA		0.338	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				48	72	0	0	0	1	0	48	72				
NOTCH4	4855	broad.mit.edu	37	6	32180367	32180367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32180367C>T	ENST00000375023.3	-	17	2702	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	855	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGAATTGCGTGGGCAGGG	0.607																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2563-2565)cGc>cAc		notch 4							145.0	121.0	129.0					6																	32180367		1510	2709	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180367C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2564G>A	6.37:g.32180367C>T	ENSP00000364163:p.Arg855His					NOTCH4_ENST00000465528.1_5'UTR	p.R855H	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			17	2702	-			855			EGF-like 22.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.2564G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	7.952	0.745134	0.15710	.	.	ENSG00000204301	ENST00000375023	T	0.61274	0.12	4.35	-6.02	0.02192	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.509214	0.16417	N	0.215329	T	0.04543	0.0124	N	0.00413	-1.525	0.19775	N	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.39820	-0.9595	10	0.35671	T	0.21	.	2.0602	0.03590	0.1276:0.169:0.392:0.3114	.	855	Q99466	NOTC4_HUMAN	H	855	ENSP00000364163:R855H	ENSP00000364163:R855H	R	-	2	0	NOTCH4	32288345	0.034000	0.19679	0.002000	0.10522	0.205000	0.24178	-0.147000	0.10234	-1.165000	0.02786	-0.367000	0.07326	CGC		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			35	77	0	0	0	1	0	35	77				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240752	39240752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240752G>T	ENST00000391417.4	+	1	294	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	123	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gcaagccccagtgctgccagt	0.682																																						ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(292-294)caG>caT		keratin associated protein 4-7							9.0	14.0	13.0					17																	39240752		683	1565	2248	SO:0001583	missense	100132476							g.chr17:39240752G>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.294G>T	17.37:g.39240752G>T	ENSP00000375236:p.Gln98His						p.Q98H	NM_033061.3	NP_149050.3					1	294	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.294G>T	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	4.503	0.093261	0.08632	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00591	6.35	2.97	-3.35	0.04928	.	1.269160	0.05476	U	0.553971	T	0.00468	0.0015	.	.	.	0.20403	N	0.999905	P	0.41265	0.744	B	0.36092	0.217	T	0.47045	-0.9147	9	0.34782	T	0.22	.	7.1011	0.25338	0.0:0.3536:0.5149:0.1315	.	98	Q9BYR0	KRA47_HUMAN	H	98;89	ENSP00000375236:Q98H	ENSP00000375236:Q98H	Q	+	3	2	KRTAP4-9;KRTAP4-7	36494278	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-1.411000	0.02478	-0.734000	0.04843	-0.519000	0.04390	CAG		0.682	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	17	1	0	0.115264	1	0.117355	3	17				
QPCT	25797	broad.mit.edu	37	2	37586802	37586802	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37586802G>T	ENST00000338415.3	+	3	505	c.347G>T	c.(346-348)gGg>gTg	p.G116V	QPCT_ENST00000537448.1_Missense_Mutation_p.G67V	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	116					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACACCCTATGGGTACCGGTCT	0.463																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(346-348)gGg>gTg		glutaminyl-peptide cyclotransferase							97.0	80.0	86.0					2																	37586802		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586802G>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.347G>T	2.37:g.37586802G>T	ENSP00000344829:p.Gly116Val					QPCT_ENST00000537448.1_Missense_Mutation_p.G67V	p.G116V	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			3	505	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	116					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.347G>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594500	0.86953	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.25250	1.81;1.81;1.81	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71331	-0.4625	10	0.87932	D	0	-16.7266	19.4608	0.94916	0.0:0.0:1.0:0.0	.	67;116	Q16769-2;Q16769	.;QPCT_HUMAN	V	116;67;67	ENSP00000344829:G116V;ENSP00000385391:G67V;ENSP00000441606:G67V	ENSP00000344829:G116V	G	+	2	0	QPCT	37440306	1.000000	0.71417	0.912000	0.35992	0.881000	0.50899	9.675000	0.98638	2.587000	0.87381	0.655000	0.94253	GGG		0.463	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			21	35	1	0	1.50039e-11	1	1.87199e-11	21	35				
CASD1	64921	broad.mit.edu	37	7	94175012	94175012	+	Splice_Site	SNP	C	C	T	rs376448411		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94175012C>T	ENST00000297273.4	+	12	1919	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	544						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.e12+1		CAS1 domain containing 1		C		0,4402		0,0,2201	81.0	72.0	75.0		1632	-3.9	1.0	7		75	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous-near-splice	CASD1	NM_022900.4		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		544/798	94175012	1,12997	2201	4298	6499	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94175012C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1633+1C>T	7.37:g.94175012C>T							p.N544_splice	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	1919	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		544					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Splice_Site	SNP	ENST00000297273.4	37	c.1633_splice	CCDS5636.1																																																																																				0.284	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	Silent	23	17	0	0	0	1	0	23	17				
DHCR24	1718	broad.mit.edu	37	1	55337188	55337188	+	Silent	SNP	G	G	A	rs145971053	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55337188G>A	ENST00000371269.3	-	5	809	c.711C>T	c.(709-711)taC>taT	p.Y237Y	DHCR24_ENST00000535035.1_Silent_p.Y196Y|DHCR24_ENST00000537443.1_Silent_p.Y69Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	237					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCAGCTTGACGTACTTCTTGG	0.602																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(709-711)taC>taT		24-dehydrocholesterol reductase							82.0	77.0	79.0					1																	55337188		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55337188G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.711C>T	1.37:g.55337188G>A						DHCR24_ENST00000535035.1_Silent_p.Y196Y|DHCR24_ENST00000537443.1_Silent_p.Y69Y	p.Y237Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			5	809	-			237					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.711C>T	CCDS600.1																																																																																				0.602	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		20	36	0	0	0	1	0	20	36				
CDKN2AIP	55602	broad.mit.edu	37	4	184366750	184366750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184366750C>A	ENST00000504169.1	+	2	542	c.335C>A	c.(334-336)gCt>gAt	p.A112D	CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	112					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTGACAGATGCTCCAACCTAT	0.363																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(334-336)gCt>gAt		CDKN2A interacting protein							112.0	102.0	105.0					4																	184366750		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184366750C>A	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.335C>A	4.37:g.184366750C>A	ENSP00000427108:p.Ala112Asp					CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.A112D	p.A112D	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	542	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	112					Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.335C>A	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357687	0.95854	.	.	ENSG00000168564	ENST00000504169;ENST00000302350;ENST00000510928	.	.	.	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000002	T	0.78610	0.4310	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77728	-0.2479	9	0.72032	D	0.01	-14.2394	20.7342	0.99715	0.0:1.0:0.0:0.0	.	112	Q9NXV6	CARF_HUMAN	D	112	.	ENSP00000303788:A112D	A	+	2	0	CDKN2AIP	184603744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.646000	0.74348	2.906000	0.99361	0.655000	0.94253	GCT		0.363	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		39	42	1	0	8.16277e-20	1	1.06952e-19	39	42				
SEC16A	9919	broad.mit.edu	37	9	139371902	139371902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139371902C>T	ENST00000313050.7	-	1	239	c.166G>A	c.(166-168)Gct>Act	p.A56T	SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000290037.6_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTACTAAAAGCAAATGGATCC	0.562																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(166-168)Gct>Act		SEC16 homolog A (S. cerevisiae)							57.0	60.0	59.0					9																	139371902		1956	4133	6089	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371902C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.166G>A	9.37:g.139371902C>T	ENSP00000325827:p.Ala56Thr						p.A56T	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	239	-		Myeloproliferative disorder(178;0.0511)	2023					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000313050.7	37	c.166G>A	CCDS55351.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041868	0.75732	.	.	ENSG00000148396	ENST00000313050	T	0.52526	0.66	5.36	4.45	0.53987	.	.	.	.	.	T	0.55130	0.1901	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.50242	-0.8851	8	.	.	.	.	13.5493	0.61723	0.0:0.9234:0.0:0.0766	.	56	F1T0I1	.	T	56	ENSP00000325827:A56T	.	A	-	1	0	SEC16A	138491723	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.591000	0.67536	2.513000	0.84729	0.655000	0.94253	GCT		0.562	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		16	24	0	0	0	1	0	16	24				
THRAP3	9967	broad.mit.edu	37	1	36752451	36752451	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752451C>A	ENST00000354618.5	+	4	844	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	THRAP3_ENST00000469141.2_Missense_Mutation_p.S207Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	207	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGACATTCTCTGGAGGCACC	0.547			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(619-621)tCt>tAt		thyroid hormone receptor associated protein 3							60.0	64.0	62.0					1																	36752451		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752451C>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.620C>A	1.37:g.36752451C>A	ENSP00000346634:p.Ser207Tyr					THRAP3_ENST00000469141.2_Missense_Mutation_p.S207Y	p.S207Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	844	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	207			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.620C>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249050	0.59103	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15952	2.38;2.38	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	T	0.27098	0.0664	L	0.47716	1.5	0.41481	D	0.988166	P	0.47191	0.891	P	0.48141	0.568	T	0.00290	-1.1843	10	0.62326	D	0.03	-8.3986	19.2499	0.93919	0.0:1.0:0.0:0.0	.	207	Q9Y2W1	TR150_HUMAN	Y	207	ENSP00000346634:S207Y;ENSP00000433825:S207Y	ENSP00000346634:S207Y	S	+	2	0	THRAP3	36525038	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.526000	0.60566	2.793000	0.96121	0.655000	0.94253	TCT		0.547	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		11	91	1	0	3.07112e-06	1	3.52574e-06	11	91				
CREBBP	1387	broad.mit.edu	37	16	3929833	3929833	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3929833C>A	ENST00000262367.5	-	1	894	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	CREBBP_ENST00000382070.3_Splice_Site_p.D29Y	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	29		Breakpoint for translocation to form KAT6B-CREBBP.			cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCTCCTCACCTGTGCTGTCA	0.672			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.e1+1		CREB binding protein							26.0	22.0	23.0					16																	3929833		2197	4300	6497	SO:0001630	splice_region_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3929833C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.85+1G>T	16.37:g.3929833C>A						CREBBP_ENST00000382070.3_Splice_Site_p.D29_splice	p.D29_splice	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	1	894	-		Ovarian(90;0.0266)	29				Breakpoint for translocation to form MYST4-CREBBP.	D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	SNP	ENST00000262367.5	37	c.85_splice	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901582	0.52227	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.89939	-2.49;-2.59	3.47	3.47	0.39725	.	0.000000	0.53938	U	0.000042	D	0.93154	0.7820	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.75484	0.929;0.986	D	0.93022	0.6441	9	.	.	.	-7.0615	14.5603	0.68130	0.0:1.0:0.0:0.0	.	97;29	Q4LE28;Q92793	.;CBP_HUMAN	Y	29;97;29	ENSP00000262367:D29Y;ENSP00000371502:D29Y	.	D	-	1	0	CREBBP	3869834	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.596000	0.61055	1.480000	0.48289	0.205000	0.17691	GAT		0.672	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	Missense_Mutation	7	7	1	0	8.12818e-05	1	8.99451e-05	7	7				
RERE	473	broad.mit.edu	37	1	8418647	8418647	+	Silent	SNP	C	C	T	rs386628264		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8418647C>T	ENST00000337907.3	-	21	4582	c.3948G>A	c.(3946-3948)gaG>gaA	p.E1316E	RERE_ENST00000377464.1_Silent_p.E1048E|RERE_ENST00000476556.1_Silent_p.E762E|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.E1316E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1316	Arg/Glu-rich (mixed charge).				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCAGCTCCCGCTCTCGGATCT	0.692																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3946-3948)gaG>gaA		arginine-glutamic acid dipeptide (RE) repeats							19.0	24.0	22.0					1																	8418647		2187	4293	6480	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418647C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3948G>A	1.37:g.8418647C>T						RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.E1048E|RERE_ENST00000476556.1_Silent_p.E762E|RERE_ENST00000400908.2_Silent_p.E1316E	p.E1316E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4582	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1316			Arg/Glu-rich (mixed charge).		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.3948G>A	CCDS95.1																																																																																				0.692	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			6	16	0	0	0	1	0	6	16				
TTN	7273	broad.mit.edu	37	2	179603981	179603981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179603981G>A	ENST00000591111.1	-	46	13252	c.13028C>T	c.(13027-13029)aCg>aTg	p.T4343M	TTN_ENST00000460472.2_Missense_Mutation_p.T4297M|TTN_ENST00000359218.5_Missense_Mutation_p.T4422M|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T4660M|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T4489M			Q8WZ42	TITIN_HUMAN	titin	12101	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGACTAGCGTATATGTATT	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13978-13980)aCg>aTg		titin							134.0	117.0	123.0					2																	179603981		1895	4126	6021	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179603981G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13028C>T	2.37:g.179603981G>A	ENSP00000465570:p.Thr4343Met					TTN_ENST00000460472.2_Missense_Mutation_p.T4297M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.T4422M|TTN_ENST00000342175.6_Missense_Mutation_p.T4489M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T4343M	p.T4660M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	14203	-			4343					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13979C>T		.	.	.	.	.	.	.	.	.	.	G	6.709	0.499476	0.12762	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.70986	-0.53;-0.53;-0.53	5.83	4.96	0.65561	.	.	.	.	.	T	0.79690	0.4489	H	0.94925	3.6	0.26039	N	0.981636	B;B;B	0.31548	0.328;0.328;0.328	B;B;B	0.34138	0.176;0.176;0.176	T	0.75682	-0.3233	9	0.87932	D	0	.	11.4512	0.50154	0.0659:0.0:0.8089:0.1252	.	4297;4422;4489	D3DPF9;E7EQE6;E7ET18	.;.;.	M	4297;4489;4422;4297	ENSP00000434586:T4297M;ENSP00000340554:T4489M;ENSP00000352154:T4422M	ENSP00000340554:T4489M	T	-	2	0	TTN	179312226	0.997000	0.39634	0.157000	0.22605	0.147000	0.21601	2.490000	0.45294	1.484000	0.48361	0.655000	0.94253	ACG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	21	0	0	0	1	0	9	21				
SMCHD1	23347	broad.mit.edu	37	18	2738483	2738483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2738483G>A	ENST00000320876.6	+	26	3703	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1122H	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1122					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGATATGCGCTATTGCCAG	0.398																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(3364-3366)cGc>cAc		structural maintenance of chromosomes flexible hinge domain containing 1							143.0	131.0	134.0					18																	2738483		1903	4118	6021	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2738483G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3365G>A	18.37:g.2738483G>A	ENSP00000326603:p.Arg1122His					SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1122H|RP11-703M24.5_ENST00000583546.1_RNA	p.R1122H	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			26	3703	+			1122					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3365G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628808	0.87560	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27402	1.67;1.68	5.22	5.22	0.72569	.	0.133425	0.48286	D	0.000195	T	0.51415	0.1673	L	0.50333	1.59	0.41228	D	0.986552	D	0.76494	0.999	D	0.76071	0.987	T	0.44298	-0.9337	10	0.41790	T	0.15	-5.2719	19.1396	0.93443	0.0:0.0:1.0:0.0	.	1122	A6NHR9	SMHD1_HUMAN	H	1122	ENSP00000326603:R1122H;ENSP00000261598:R1122H	ENSP00000261598:R1122H	R	+	2	0	SMCHD1	2728483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.026000	0.76455	2.573000	0.86826	0.585000	0.79938	CGC		0.398	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			8	26	0	0	0	1	0	8	26				
CUL5	8065	broad.mit.edu	37	11	107944222	107944222	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107944222A>G	ENST00000393094.2	+	10	1727	c.1111A>G	c.(1111-1113)Aag>Gag	p.K371E	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	371					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCAAGAGATAAGGTATATAT	0.239																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1111-1113)Aag>Gag		cullin 5							25.0	27.0	27.0					11																	107944222		2190	4272	6462	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107944222A>G	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1111A>G	11.37:g.107944222A>G	ENSP00000376808:p.Lys371Glu					CUL5_ENST00000531843.1_3'UTR	p.K371E	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	10	1727	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	371					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1111A>G	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500405	0.85176	.	.	ENSG00000166266	ENST00000393094	T	0.74632	-0.86	4.94	4.94	0.65067	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.64630	1.985	0.80722	D	1	P	0.43542	0.81	P	0.44561	0.453	T	0.74247	-0.3727	10	0.33141	T	0.24	-12.2537	14.5907	0.68362	1.0:0.0:0.0:0.0	.	371	Q93034	CUL5_HUMAN	E	371	ENSP00000376808:K371E	ENSP00000376808:K371E	K	+	1	0	CUL5	107449432	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.300000	0.96151	1.850000	0.53721	0.533000	0.62120	AAG		0.239	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			3	36	0	0	0	1	0	3	36				
GDI1	2664	broad.mit.edu	37	X	153669466	153669466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153669466C>T	ENST00000447750.2	+	7	1078	c.743C>T	c.(742-744)aCa>aTa	p.T248I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	248					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TATGGGGGGACATATATGCTG	0.567																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(742-744)aCa>aTa		GDP dissociation inhibitor 1							160.0	136.0	144.0					X																	153669466		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153669466C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.743C>T	X.37:g.153669466C>T	ENSP00000394071:p.Thr248Ile						p.T248I	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			7	1078	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		248					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.743C>T	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381982	0.42207	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.86497	-2.13	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.72624	2.21	0.80722	D	1	B	0.25719	0.132	B	0.32677	0.15	D	0.85227	0.1030	10	0.39692	T	0.17	-20.893	15.3312	0.74212	0.0:1.0:0.0:0.0	.	248	P31150	GDIA_HUMAN	I	248;232	ENSP00000394071:T248I	ENSP00000358756:T232I	T	+	2	0	GDI1	153322660	1.000000	0.71417	0.759000	0.31340	0.122000	0.20287	7.818000	0.86416	2.211000	0.71520	0.600000	0.82982	ACA		0.567	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		50	89	0	0	0	1	0	50	89				
FAT2	2196	broad.mit.edu	37	5	150892037	150892037	+	Missense_Mutation	SNP	C	C	T	rs139222111		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150892037C>T	ENST00000261800.5	-	20	11606	c.11594G>A	c.(11593-11595)cGc>cAc	p.R3865H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3865	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCATCAGGCGAATGGAAGC	0.582																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11593-11595)cGc>cAc		FAT atypical cadherin 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	85.0	89.0		11594	1.0	0.0	5	dbSNP_134	89	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	3865/4350	150892037	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150892037C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11594G>A	5.37:g.150892037C>T	ENSP00000261800:p.Arg3865His					CTC-251D13.1_ENST00000606930.1_RNA	p.R3865H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11606	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3865			Laminin G-like.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11594G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588973	0.28357	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.78481	-1.18	5.02	1.01	0.19927	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.459039	0.20657	N	0.088081	T	0.64886	0.2639	L	0.41824	1.3	0.09310	N	1	B	0.20368	0.044	B	0.16722	0.016	T	0.49341	-0.8950	9	.	.	.	.	8.8878	0.35414	0.0:0.5929:0.0:0.4071	.	3865	Q9NYQ8	FAT2_HUMAN	H	3865	ENSP00000261800:R3865H	.	R	-	2	0	FAT2	150872230	0.000000	0.05858	0.004000	0.12327	0.619000	0.37552	-0.439000	0.06897	-0.044000	0.13491	0.561000	0.74099	CGC		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		30	39	0	0	0	1	0	30	39				
FICD	11153	broad.mit.edu	37	12	108912950	108912950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108912950C>T	ENST00000552695.1	+	3	1310	c.1075C>T	c.(1075-1077)Ctc>Ttc	p.L359F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	359	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCATTATAAACTCGTTTACAT	0.542																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(1075-1077)Ctc>Ttc		FIC domain containing							191.0	181.0	184.0					12																	108912950		2203	4300	6503	SO:0001583	missense	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108912950C>T	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1075C>T	12.37:g.108912950C>T	ENSP00000446479:p.Leu359Phe					FICD_ENST00000361549.2_3'UTR	p.L359F	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	1310	+			359			Fido.		O75406	Missense_Mutation	SNP	ENST00000552695.1	37	c.1075C>T	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080349	0.36662	.	.	ENSG00000198855	ENST00000552695	.	.	.	5.88	4.04	0.47022	Filamentation induced by cAMP/death on curing-related (3);	0.060396	0.64402	D	0.000003	T	0.34687	0.0906	N	0.05592	-0.015	0.80722	D	1	P	0.40250	0.709	P	0.46975	0.533	T	0.11324	-1.0592	9	0.06891	T	0.86	-12.2294	11.7328	0.51748	0.0:0.8496:0.0:0.1504	.	359	Q9BVA6	FICD_HUMAN	F	359	.	ENSP00000446479:L359F	L	+	1	0	FICD	107437080	0.993000	0.37304	0.945000	0.38365	0.978000	0.69477	1.293000	0.33353	2.797000	0.96272	0.561000	0.74099	CTC		0.542	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		43	54	0	0	0	1	0	43	54				
CCNL2	81669	broad.mit.edu	37	1	1325839	1325839	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1325839C>A	ENST00000400809.3	-	7	869	c.864G>T	c.(862-864)aaG>aaT	p.K288N	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Splice_Site_p.K66N	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	288					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.e7+1		cyclin L2							101.0	103.0	102.0					1																	1325839		2203	4296	6499	SO:0001630	splice_region_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325839C>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.864+1G>T	1.37:g.1325839C>A						CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Splice_Site_p.K66_splice	p.K288_splice	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	7	869	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	288					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Splice_Site	SNP	ENST00000400809.3	37	c.864_splice	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299515	0.60195	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.22134	1.97;1.97	5.66	5.66	0.87406	Cyclin, C-terminal (1);Cyclin-like (2);	0.133396	0.51477	D	0.000085	T	0.52256	0.1723	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52983	-0.8502	9	.	.	.	.	18.722	0.91698	0.0:1.0:0.0:0.0	.	288	Q96S94	CCNL2_HUMAN	N	288;66	ENSP00000383611:K288N;ENSP00000386132:K66N	.	K	-	3	2	CCNL2	1315702	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	3.769000	0.55303	2.682000	0.91365	0.650000	0.86243	AAG		0.433	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937	Missense_Mutation	27	53	1	0	9.04412e-07	1	1.0505e-06	27	53				
FOXL2	668	broad.mit.edu	37	3	138664485	138664485	+	Silent	SNP	G	G	A	rs377175851		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138664485G>A	ENST00000330315.3	-	1	1497	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	360					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGTGGTCCCAGTAAGAGCAAT	0.711			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																															ENST00000330315.3				Dom	yes		3	3q23	668	Mis	forkhead box L2	yes	"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""	O			granulosa-cell tumour of the ovary		0				large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						c.(1078-1080)taC>taT		forkhead box L2		G		0,4402		0,0,2201	28.0	29.0	29.0		1080	2.6	1.0	3		29	1,8597		0,1,4298	no	coding-synonymous	FOXL2	NM_023067.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		360/377	138664485	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	668				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr3:138664485G>A	AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.1080C>T	3.37:g.138664485G>A							p.Y360Y	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN			1	1497	-			360					Q4ZGJ3	Silent	SNP	ENST00000330315.3	37	c.1080C>T	CCDS3105.1																																																																																				0.711	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1			15	23	0	0	0	1	0	15	23				
CLSTN1	22883	broad.mit.edu	37	1	9795563	9795563	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9795563C>T	ENST00000377298.4	-	13	2637	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	CLSTN1_ENST00000377288.3_Silent_p.T596T|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Silent_p.T605T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	615					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAATTCCGGGCGTGGGGAACT	0.502																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1843-1845)acG>acA		calsyntenin 1							177.0	177.0	177.0					1																	9795563		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9795563C>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1845G>A	1.37:g.9795563C>T						CLSTN1_ENST00000377288.3_Silent_p.T596T|CLSTN1_ENST00000361311.4_Silent_p.T605T	p.T615T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	13	2637	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	615					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.1845G>A	CCDS30580.1																																																																																				0.502	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			8	94	0	0	0	1	0	8	94				
ITGAV	3685	broad.mit.edu	37	2	187501837	187501837	+	Splice_Site	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187501837G>C	ENST00000261023.3	+	8	1076		c.e8+1		ITGAV_ENST00000433736.2_Splice_Site|ITGAV_ENST00000374907.3_Splice_Site	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V						angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGCATAGATGGTATGAAGTAC	0.378																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.e8+1		integrin, alpha V							246.0	212.0	224.0					2																	187501837		2203	4300	6503	SO:0001630	splice_region_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187501837G>C		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.802+1G>C	2.37:g.187501837G>C						ITGAV_ENST00000374907.3_Splice_Site|ITGAV_ENST00000433736.2_Splice_Site		NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	8	1076	+								A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Splice_Site	SNP	ENST00000261023.3	37		CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913211	0.72983	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7843	0.91947	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAV	187210082	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.023000	0.93683	2.503000	0.84419	0.561000	0.74099	.		0.378	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	Intron	3	105	0	0	0	1	0	3	105				
TEX13B	56156	broad.mit.edu	37	X	107225148	107225148	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107225148G>A	ENST00000302917.1	-	2	302	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	70										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGGCCAGGCTGCCCCAGGTGC	0.597																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(208-210)ggC>ggT		testis expressed 13B							83.0	81.0	81.0					X																	107225148		2199	4300	6499	SO:0001819	synonymous_variant	0							g.chrX:107225148G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.210C>T	X.37:g.107225148G>A							p.G70G	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			2	302	-			70					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.210C>T	CCDS14534.1																																																																																				0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			45	93	0	0	0	1	0	45	93				
FAM21C	253725	broad.mit.edu	37	10	46224421	46224421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46224421C>T	ENST00000336378.4	+	3	356	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	FAM21C_ENST00000537517.1_Missense_Mutation_p.H80Y|FAM21C_ENST00000374362.2_Missense_Mutation_p.H80Y|FAM21C_ENST00000359860.4_Intron|FAM21FP_ENST00000608637.1_RNA|FAM21C_ENST00000540872.1_Missense_Mutation_p.H80Y	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	80					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGTCGCCTGCATAATGTCTT	0.388																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(238-240)Cat>Tat		family with sequence similarity 21, member C							165.0	169.0	167.0					10																	46224421		1850	4090	5940	SO:0001583	missense	253725							g.chr10:46224421C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.238C>T	10.37:g.46224421C>T	ENSP00000337541:p.His80Tyr					FAM21C_ENST00000540872.1_Missense_Mutation_p.H80Y|FAM21C_ENST00000359860.4_Intron|FAM21C_ENST00000537517.1_Missense_Mutation_p.H80Y|FAM21C_ENST00000374362.2_Missense_Mutation_p.H80Y	p.H80Y	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			3	356	+			80					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.238C>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.314853	0.81358	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.84846	2.72	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.83275	0.986;0.996;0.996	D	0.84132	0.0412	9	0.87932	D	0	-15.3032	14.2107	0.65762	0.0:1.0:0.0:0.0	.	80;80;80	F5H871;Q9Y4E1-4;Q9Y4E1	.;.;FA21C_HUMAN	Y	80	.	ENSP00000337541:H80Y	H	+	1	0	FAM21C	45544427	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.462000	0.80851	2.215000	0.71742	0.650000	0.86243	CAT		0.388	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				53	91	0	0	0	1	0	53	91				
PCDHGA12	26025	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(775-777)aCg>aTg									55.0	56.0	56.0					5																	140811102		2203	4300	6503	SO:0001583	missense	0							g.chr5:140811102C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.776C>T	5.37:g.140811102C>T	ENSP00000252085:p.Thr259Met					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T259M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	918	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.776C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282306	0.40394	.	.	ENSG00000253159	ENST00000252085	T	0.58358	0.34	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81088	0.4750	H	0.94964	3.605	0.28706	N	0.903812	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.78790	-0.2066	9	0.66056	D	0.02	.	17.9729	0.89118	0.0:1.0:0.0:0.0	.	259;259	O60330-2;O60330	.;PCDGC_HUMAN	M	259	ENSP00000252085:T259M	ENSP00000252085:T259M	T	+	2	0	PCDHGA12	140791286	0.029000	0.19370	0.948000	0.38648	0.063000	0.16089	3.056000	0.49923	2.566000	0.86566	0.655000	0.94253	ACG		0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		17	33	0	0	0	1	0	17	33				
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TCGACGCTTGTCTGGGAGGCT	0.423																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(949-951)tgT>tgC		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						146.0	136.0	139.0					10																	72631635		2203	4300	6503	SO:0001819	synonymous_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72631635T>C	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.951T>C	10.37:g.72631635T>C							p.C317C	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			11	1151	+			317					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	c.951T>C	CCDS31216.1																																																																																				0.423	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		12	116	0	0	0	1	0	12	116				
USP15	9958	broad.mit.edu	37	12	62749132	62749132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62749132G>A	ENST00000280377.5	+	8	849	c.791G>A	c.(790-792)tGt>tAt	p.C264Y	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.C235Y|USP15_ENST00000393654.3_Missense_Mutation_p.C239Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	264					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAATTACTGTCTTCCATCA	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(790-792)tGt>tAt		ubiquitin specific peptidase 15							70.0	69.0	70.0					12																	62749132		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749132G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.791G>A	12.37:g.62749132G>A	ENSP00000280377:p.Cys264Tyr					USP15_ENST00000353364.3_Missense_Mutation_p.C235Y|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.C239Y	p.C264Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	849	+			264					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.791G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457438	0.63401	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.18810	2.19;2.19;2.2	5.45	5.45	0.79879	.	0.222404	0.47093	D	0.000255	T	0.21427	0.0516	L	0.34521	1.04	0.58432	D	0.999998	P;P	0.50819	0.939;0.924	B;B	0.43536	0.423;0.277	T	0.01045	-1.1470	9	.	.	.	-9.9362	19.2911	0.94100	0.0:0.0:1.0:0.0	.	264;235	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	Y	235;264;239	ENSP00000258123:C235Y;ENSP00000280377:C264Y;ENSP00000377264:C239Y	.	C	+	2	0	USP15	61035399	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.916000	0.92745	2.569000	0.86673	0.557000	0.71058	TGT		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		9	27	0	0	0	1	0	9	27				
RDX	5962	broad.mit.edu	37	11	110102601	110102601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110102601G>A	ENST00000343115.4	-	14	2064	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	RDX_ENST00000405097.1_Missense_Mutation_p.A582V|RDX_ENST00000528498.1_Missense_Mutation_p.A582V|RDX_ENST00000530301.1_Missense_Mutation_p.A178V|RDX_ENST00000528900.1_Missense_Mutation_p.A235V|RDX_ENST00000544551.1_Missense_Mutation_p.A446V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	582					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTCACATTGCTTCAAACTC	0.428																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1744-1746)gCa>gTa		radixin							253.0	227.0	236.0					11																	110102601		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110102601G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1745C>T	11.37:g.110102601G>A	ENSP00000342830:p.Ala582Val					RDX_ENST00000405097.1_Missense_Mutation_p.A582V|RDX_ENST00000528498.1_Missense_Mutation_p.A582V|RDX_ENST00000528900.1_Missense_Mutation_p.A235V|RDX_ENST00000530301.1_Missense_Mutation_p.A178V|RDX_ENST00000544551.1_Missense_Mutation_p.A446V	p.A582V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	14	2064	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	582					A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.1745C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366682	0.82463	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000530301;ENST00000343115;ENST00000544551;ENST00000530085	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.87	5.87	0.94306	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.176937	0.51477	D	0.000096	D	0.88202	0.6373	M	0.62723	1.935	0.52501	D	0.999954	P;P;P;P;P	0.45348	0.855;0.643;0.656;0.744;0.856	P;P;B;P;P	0.53313	0.69;0.482;0.243;0.7;0.723	D	0.86348	0.1709	10	0.45353	T	0.12	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	446;178;582;582;235	F5H1A7;A7YIK0;A7YIJ8;P35241;A7YIK3	.;.;.;RADI_HUMAN;.	V	582;582;235;178;582;446;252	ENSP00000432112:A582V;ENSP00000384136:A582V;ENSP00000433580:A235V;ENSP00000436277:A178V;ENSP00000342830:A582V;ENSP00000445826:A446V;ENSP00000434788:A252V	ENSP00000342830:A582V	A	-	2	0	RDX	109607811	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.683000	0.74533	2.941000	0.99782	0.655000	0.94253	GCA		0.428	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		19	217	0	0	0	1	0	19	217				
PRL	5617	broad.mit.edu	37	6	22294743	22294743	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22294743G>A	ENST00000306482.1	-	2	617	c.99C>T	c.(97-99)ccC>ccT	p.P33P	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	33					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CAGCCCCGCCGGGACAGATGG	0.607																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(97-99)ccC>ccT		prolactin							40.0	39.0	39.0					6																	22294743		2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22294743G>A	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.99C>T	6.37:g.22294743G>A						RP3-404K8.2_ENST00000561912.1_RNA	p.P33P	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			2	617	-	Ovarian(93;0.163)		33					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.99C>T	CCDS4548.1																																																																																				0.607	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		12	12	0	0	0	1	0	12	12				
ABCD1	215	broad.mit.edu	37	X	153005669	153005669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005669C>T	ENST00000218104.3	+	6	2011	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	538	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCCCAGCGCATGTTCTA	0.637																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1612-1614)Cgc>Tgc		ATP-binding cassette, sub-family D (ALD), member 1							87.0	82.0	84.0					X																	153005669		2203	4300	6503	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153005669C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1612C>T	X.37:g.153005669C>T	ENSP00000218104:p.Arg538Cys					U52111.14_ENST00000434284.1_RNA	p.R538C	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			6	2011	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		538			ABC transporter.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1612C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911729	0.52439	.	.	ENSG00000101986	ENST00000218104	D	0.94092	-3.35	4.93	4.93	0.64822	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.127081	0.53938	D	0.000053	D	0.90686	0.7078	L	0.48935	1.535	0.80722	D	1	B	0.18863	0.031	B	0.20955	0.032	D	0.88303	0.2951	10	0.59425	D	0.04	-16.5695	14.4412	0.67318	0.0:1.0:0.0:0.0	.	538	P33897	ABCD1_HUMAN	C	538	ENSP00000218104:R538C	ENSP00000218104:R538C	R	+	1	0	ABCD1	152658863	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.440000	0.59975	2.283000	0.76528	0.429000	0.28392	CGC		0.637	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		28	60	0	0	0	1	0	28	60				
AMMECR1L	83607	broad.mit.edu	37	2	128631594	128631594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128631594C>T	ENST00000272647.5	-	3	475	c.215G>A	c.(214-216)gGa>gAa	p.G72E	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.G72E	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	72										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGGAGAGTTTCCAGGTCCCAG	0.547																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(214-216)gGa>gAa		AMMECR1-like							170.0	154.0	159.0					2																	128631594		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128631594C>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.215G>A	2.37:g.128631594C>T	ENSP00000272647:p.Gly72Glu					AMMECR1L_ENST00000393001.1_Missense_Mutation_p.G72E	p.G72E	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	475	-	Colorectal(110;0.1)		72					B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.215G>A	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299450	0.60195	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000002	T	0.47728	0.1461	N	0.24115	0.695	0.52501	D	0.999956	B	0.21381	0.055	B	0.06405	0.002	T	0.44128	-0.9348	9	0.09843	T	0.71	-34.7873	18.9231	0.92534	0.0:1.0:0.0:0.0	.	72	Q6DCA0	AMERL_HUMAN	E	72	.	ENSP00000272647:G72E	G	-	2	0	AMMECR1L	128348064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.661000	0.54503	2.474000	0.83562	0.655000	0.94253	GGA		0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		27	56	0	0	0	1	0	27	56				
TRIM32	22954	broad.mit.edu	37	9	119461189	119461189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119461189C>T	ENST00000450136.1	+	2	1329	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R390C	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	390					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTCGCTGACCGTGGTAACTA	0.493																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1168-1170)Cgt>Tgt		tripartite motif containing 32							80.0	81.0	81.0					9																	119461189		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461189C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1168C>T	9.37:g.119461189C>T	ENSP00000408292:p.Arg390Cys					ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R390C	p.R390C	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1329	+			390					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1168C>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844797	0.32606	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.73047	-0.71;-0.71	5.47	4.56	0.56223	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	T	0.60547	0.2277	L	0.45744	1.44	0.80722	D	1	B	0.24882	0.113	B	0.15052	0.012	T	0.55522	-0.8128	9	.	.	.	-6.0872	11.1951	0.48709	0.1441:0.7173:0.1386:0.0	.	390	Q13049	TRI32_HUMAN	C	390	ENSP00000408292:R390C;ENSP00000363095:R390C	.	R	+	1	0	TRIM32	118501010	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.663000	0.54518	1.276000	0.44395	0.650000	0.86243	CGT		0.493	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		5	90	0	0	0	1	0	5	90				
THOC5	8563	broad.mit.edu	37	22	29904471	29904471	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29904471G>A	ENST00000490103.1	-	20	2149	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	THOC5_ENST00000397871.1_Missense_Mutation_p.P676L|THOC5_ENST00000397872.1_Missense_Mutation_p.P676L|THOC5_ENST00000397873.2_Missense_Mutation_p.P676L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	676					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATCCCTGAGGATGGTTGTA	0.488																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2026-2028)cCt>cTt		THO complex 5							102.0	90.0	94.0					22																	29904471		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29904471G>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.2027C>T	22.37:g.29904471G>A	ENSP00000420306:p.Pro676Leu					THOC5_ENST00000397873.2_Missense_Mutation_p.P676L|THOC5_ENST00000397872.1_Missense_Mutation_p.P676L|THOC5_ENST00000397871.1_Missense_Mutation_p.P676L	p.P676L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			20	2149	-			676					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.2027C>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.496115	0.64186	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	L	0.36672	1.1	0.80722	D	1	B	0.25441	0.126	B	0.16289	0.015	T	0.03555	-1.1025	10	0.22706	T	0.39	-30.2188	19.9372	0.97144	0.0:0.0:1.0:0.0	.	676	Q13769	THOC5_HUMAN	L	676	ENSP00000420306:P676L;ENSP00000380970:P676L;ENSP00000380969:P676L;ENSP00000380971:P676L	ENSP00000380969:P676L	P	-	2	0	THOC5	28234471	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.253000	0.78320	2.810000	0.96702	0.655000	0.94253	CCT		0.488	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		12	20	0	0	0	1	0	12	20				
ADCY10	55811	broad.mit.edu	37	1	167830117	167830117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167830117G>T	ENST00000367851.4	-	15	1985	c.1801C>A	c.(1801-1803)Cat>Aat	p.H601N	ADCY10_ENST00000545172.1_Missense_Mutation_p.H448N|ADCY10_ENST00000367848.1_Missense_Mutation_p.H509N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	601					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTGAACATGGAAAATGTCA	0.398																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1525-1527)Cat>Aat		adenylate cyclase 10 (soluble)							177.0	162.0	167.0					1																	167830117		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167830117G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1801C>A	1.37:g.167830117G>T	ENSP00000356825:p.His601Asn					ADCY10_ENST00000367851.4_Missense_Mutation_p.H601N|ADCY10_ENST00000545172.1_Missense_Mutation_p.H448N	p.H509N			Q96PN6	ADCYA_HUMAN			15	2022	-			601					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1525C>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	6.082	0.383369	0.11524	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.60797	0.16;0.16;0.16	5.56	3.71	0.42584	.	0.349563	0.25211	N	0.032318	T	0.34135	0.0887	L	0.31207	0.915	0.30248	N	0.794393	P;D;D	0.57571	0.867;0.98;0.966	P;P;B	0.50754	0.528;0.649;0.446	T	0.14392	-1.0474	9	0.27082	T	0.32	-8.9507	8.8079	0.34950	0.1729:0.0:0.8271:0.0	.	448;509;601	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	N	448;601;509	ENSP00000441992:H448N;ENSP00000356825:H601N;ENSP00000356822:H509N	ENSP00000356822:H509N	H	-	1	0	ADCY10	166096741	1.000000	0.71417	0.999000	0.59377	0.164000	0.22412	3.303000	0.51858	0.839000	0.34971	-0.251000	0.11542	CAT		0.398	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		20	72	1	0	1.96292e-10	1	2.41709e-10	20	72				
MEF2B	100271849	broad.mit.edu	37	19	19257608	19257608	+	Silent	SNP	C	C	A	rs577437789		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19257608C>A	ENST00000602424.2	-	8	1344	c.618G>T	c.(616-618)ggG>ggT	p.G206G	MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.G206G|MEF2B_ENST00000410050.1_Silent_p.G206G|MEF2B_ENST00000162023.5_Silent_p.G206G|MEF2B_ENST00000424583.2_Silent_p.G206G|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.G223G|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000409224.1_Silent_p.G209G	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	206					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CTGACCTCCGCCCTTCCGTCG	0.662																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(616-618)ggG>ggT		myocyte enhancer factor 2B							54.0	50.0	51.0					19																	19257608		2203	4300	6503	SO:0001819	synonymous_variant	100271849							g.chr19:19257608C>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.618G>T	19.37:g.19257608C>A						MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.G223G|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.G206G|MEF2B_ENST00000162023.5_Silent_p.G206G|MEF2B_ENST00000410050.1_Silent_p.G206G|MEF2B_ENST00000424583.2_Silent_p.G206G|MEF2B_ENST00000409447.2_Intron|MEF2B_ENST00000409224.1_Silent_p.G209G	p.G206G	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		8	1344	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP	ENST00000602424.2	37	c.618G>T	CCDS12394.1																																																																																				0.662	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		10	20	1	0	9.70103e-10	1	1.18443e-09	10	20				
ERGIC2	51290	broad.mit.edu	37	12	29496212	29496212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29496212G>A	ENST00000360150.4	-	12	904	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	277					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TTAATGATACGTTCCTAAAAG	0.418																																						ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(829-831)Cgt>Tgt		ERGIC and golgi 2	Arsenic trioxide(DB01169)						72.0	68.0	69.0					12																	29496212		1880	4108	5988	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29496212G>A	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.829C>T	12.37:g.29496212G>A	ENSP00000353270:p.Arg277Cys						p.R277C	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			12	904	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		277					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.829C>T	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.815413|3.815413	0.70912|0.70912	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023|ENST00000548909	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Domain of unknown function DUF1692 (1);|.	0.052447|.	0.64402|.	D|.	0.000001|.	T|T	0.81730|0.81730	0.4884|0.4884	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72625|.	0.978|.	D|D	0.85401|0.85401	0.1131|0.1131	9|5	0.87932|.	D|.	0|.	.|.	10.9894|10.9894	0.47541|0.47541	0.0:0.0:0.8141:0.1859|0.0:0.0:0.8141:0.1859	.|.	277|.	Q96RQ1|.	ERGI2_HUMAN|.	C|M	277;285|86	.|.	ENSP00000201023:R285C|.	R|T	-|-	1|2	0|0	ERGIC2|ERGIC2	29387479|29387479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	4.825000|4.825000	0.62708|0.62708	2.648000|2.648000	0.89879|0.89879	0.555000|0.555000	0.69702|0.69702	CGT|ACG		0.418	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		7	65	0	0	0	1	0	7	65				
HIPK3	10114	broad.mit.edu	37	11	33373380	33373380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33373380G>A	ENST00000303296.4	+	15	3339	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	HIPK3_ENST00000456517.1_Missense_Mutation_p.A991T|HIPK3_ENST00000525975.1_Missense_Mutation_p.A991T|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Missense_Mutation_p.A991T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1012					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGAGCATATGGCAAACACAGG	0.438																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3034-3036)Gca>Aca		homeodomain interacting protein kinase 3							71.0	57.0	62.0					11																	33373380		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373380G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3034G>A	11.37:g.33373380G>A	ENSP00000304226:p.Ala1012Thr					HIPK3_ENST00000525975.1_Missense_Mutation_p.A991T|HIPK3_ENST00000456517.1_Missense_Mutation_p.A991T|HIPK3_ENST00000379016.3_Missense_Mutation_p.A991T	p.A1012T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			15	3339	+			1012					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3034G>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475598	0.26511	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.52057	0.69;0.68;0.69;0.69	6.06	4.19	0.49359	.	0.196295	0.35677	N	0.003051	T	0.21761	0.0524	N	0.08118	0	0.28119	N	0.930694	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.19811	-1.0294	10	0.10377	T	0.69	.	6.2408	0.20789	0.1347:0.0:0.5986:0.2666	.	991;1012	Q9H422-2;Q9H422	.;HIPK3_HUMAN	T	991;1012;991;991	ENSP00000431710:A991T;ENSP00000304226:A1012T;ENSP00000368301:A991T;ENSP00000398241:A991T	ENSP00000304226:A1012T	A	+	1	0	HIPK3	33329956	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.560000	0.36331	0.889000	0.36185	0.655000	0.94253	GCA		0.438	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		13	13	0	0	0	1	0	13	13				
TSN	7247	broad.mit.edu	37	2	122522801	122522801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122522801G>A	ENST00000389682.3	+	6	792	c.545G>A	c.(544-546)cGc>cAc	p.R182H	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.R177H|TSN_ENST00000536142.1_3'UTR	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	182	Leucine-zipper. {ECO:0000255}.				DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCCGGTTTTCGCCTTCTCAAC	0.512																																						ENST00000389682.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12						c.(544-546)cGc>cAc		translin							210.0	208.0	209.0					2																	122522801		2203	4300	6503	SO:0001583	missense	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122522801G>A	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.545G>A	2.37:g.122522801G>A	ENSP00000374332:p.Arg182His					TSN_ENST00000536142.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.R177H|TSN_ENST00000498545.1_3'UTR	p.R182H	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN			6	792	+		Ovarian(717;0.0563)|Prostate(154;0.116)	182			Leucine-zipper (Potential).		B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	37	c.545G>A	CCDS33284.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506018	0.96386	.	.	ENSG00000211460	ENST00000389682;ENST00000413418;ENST00000409193	.	.	.	5.67	5.67	0.87782	Translin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85599	0.1251	8	.	.	.	-28.0802	19.1191	0.93355	0.0:0.0:1.0:0.0	.	135;182	B3KRM8;Q15631	.;TSN_HUMAN	H	182;148;177	.	.	R	+	2	0	TSN	122239271	1.000000	0.71417	0.994000	0.49952	0.896000	0.52359	9.647000	0.98478	2.837000	0.97791	0.655000	0.94253	CGC		0.512	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		95	141	0	0	0	1	0	95	141				
DCUN1D1	54165	broad.mit.edu	37	3	182683487	182683487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182683487G>A	ENST00000292782.4	-	2	211	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.Q5*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	20	UBA-like.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCACTAGATTGTGTGAAGATC	0.313																																						ENST00000292782.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(58-60)Caa>Taa		DCN1, defective in cullin neddylation 1, domain containing 1							113.0	116.0	115.0					3																	182683487		2202	4299	6501	SO:0001587	stop_gained	54165					ubiquitin ligase complex	protein binding	g.chr3:182683487G>A	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.58C>T	3.37:g.182683487G>A	ENSP00000292782:p.Gln20*					DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.Q5*	p.Q20*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		2	211	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		20			UBA-like.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Nonsense_Mutation	SNP	ENST00000292782.4	37	c.58C>T	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	G	37	6.051903	0.97236	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954;ENST00000497606;ENST00000460412;ENST00000487822;ENST00000466812	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-5.716	20.1294	0.97995	0.0:0.0:1.0:0.0	.	.	.	.	X	20;20;5;5;5;5;5	.	ENSP00000292782:Q20X	Q	-	1	0	DCUN1D1	184166181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.758000	0.94735	0.591000	0.81541	CAA		0.313	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		35	56	0	0	0	1	0	35	56				
DYRK1A	1859	broad.mit.edu	37	21	38884408	38884408	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38884408A>C	ENST00000398960.2	+	11	1941	c.1866A>C	c.(1864-1866)caA>caC	p.Q622H	DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q613H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q394H|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	622					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						atGGACAACAAGCCTTGGGTA	0.512																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1837-1839)caA>caC		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							90.0	80.0	83.0					21																	38884408		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884408A>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1866A>C	21.37:g.38884408A>C	ENSP00000381932:p.Gln622His					DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Q622H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q394H	p.Q613H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3309	+			622			Poly-His.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1839A>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	A	5.710	0.315430	0.10789	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58358	0.34;0.35;0.89	5.41	5.41	0.78517	.	0.275955	0.41294	D	0.000910	T	0.29061	0.0722	N	0.08118	0	0.49299	D	0.999776	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16217	-1.0410	10	0.11794	T	0.64	.	10.6769	0.45792	0.8574:0.0:0.0:0.1426	.	622;613	Q13627;Q13627-2	DYR1A_HUMAN;.	H	613;622;394	ENSP00000340373:Q613H;ENSP00000381932:Q622H;ENSP00000407854:Q394H	ENSP00000340373:Q613H	Q	+	3	2	DYRK1A	37806278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.237000	0.51344	2.056000	0.61249	0.533000	0.62120	CAA		0.512	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		3	46	0	0	0	1	0	3	46				
IWS1	55677	broad.mit.edu	37	2	128252448	128252448	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128252448T>G	ENST00000295321.4	-	8	2058	c.1799A>C	c.(1798-1800)aAg>aCg	p.K600T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	600	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AAATACTTACTTCTTAAGGTG	0.289																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.e8+1		IWS1 homolog (S. cerevisiae)							73.0	78.0	76.0					2																	128252448		2201	4284	6485	SO:0001630	splice_region_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128252448T>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1799+1A>C	2.37:g.128252448T>G						AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	p.K600_splice	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	8	2058	-	Colorectal(110;0.1)		600					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Splice_Site	SNP	ENST00000295321.4	37	c.1799_splice	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072422	0.76415	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.47528	0.84	5.82	4.67	0.58626	.	0.047391	0.85682	D	0.000000	T	0.67655	0.2916	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.69503	-0.5128	9	.	.	.	-15.0143	11.6473	0.51269	0.0:0.0692:0.0:0.9308	.	600	Q96ST2	IWS1_HUMAN	T	600;553	ENSP00000295321:K600T	.	K	-	2	0	IWS1	127968918	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.793000	0.85851	1.042000	0.40150	0.383000	0.25322	AAG		0.289	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969	Missense_Mutation	4	38	0	0	0	1	0	4	38				
GSPT2	23708	broad.mit.edu	37	X	51486831	51486831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51486831G>A	ENST00000340438.4	+	1	351	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	37					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CTCTGCGGTGGCCGAGGCCCA	0.687																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(109-111)Gcc>Acc		G1 to S phase transition 2							26.0	28.0	28.0					X																	51486831		2202	4297	6499	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51486831G>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.109G>A	X.37:g.51486831G>A	ENSP00000341247:p.Ala37Thr						p.A37T	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	351	+	Ovarian(276;0.236)		37					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.109G>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986773	0.53934	.	.	ENSG00000189369	ENST00000340438	T	0.34072	1.38	3.63	3.63	0.41609	.	0.135474	0.31897	U	0.006882	T	0.36991	0.0987	M	0.61703	1.905	0.36533	D	0.870845	P	0.47762	0.9	P	0.45946	0.498	T	0.39563	-0.9608	10	0.23891	T	0.37	-0.91	9.8736	0.41189	0.0:0.0:1.0:0.0	.	37	Q8IYD1	ERF3B_HUMAN	T	37	ENSP00000341247:A37T	ENSP00000341247:A37T	A	+	1	0	GSPT2	51503571	.	.	0.976000	0.42696	0.894000	0.52154	.	.	2.079000	0.62486	0.519000	0.50382	GCC		0.687	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			20	15	0	0	0	1	0	20	15				
LAMC1	3915	broad.mit.edu	37	1	183087260	183087260	+	Missense_Mutation	SNP	C	C	T	rs200987098		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183087260C>T	ENST00000258341.4	+	11	2226	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	657	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TATCAAGATACGTGGGACATA	0.383																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1969-1971)Cgt>Tgt		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103.0	108.0	106.0					1																	183087260		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087260C>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1969C>T	1.37:g.183087260C>T	ENSP00000258341:p.Arg657Cys						p.R657C	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			11	2226	+			657			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1969C>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880031	0.91740	.	.	ENSG00000135862	ENST00000258341	T	0.51071	0.72	5.0	5.0	0.66597	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81947	-0.0700	10	0.87932	D	0	.	18.3308	0.90268	0.0:1.0:0.0:0.0	.	657	P11047	LAMC1_HUMAN	C	657	ENSP00000258341:R657C	ENSP00000258341:R657C	R	+	1	0	LAMC1	181353883	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.224000	0.78042	2.317000	0.78254	0.650000	0.86243	CGT		0.383	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		32	50	0	0	0	1	0	32	50				
B4GALNT1	2583	broad.mit.edu	37	12	58022541	58022541	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58022541G>A	ENST00000341156.4	-	8	1541	c.957C>T	c.(955-957)cgC>cgT	p.R319R	B4GALNT1_ENST00000449184.3_Silent_p.R286R|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Silent_p.R264R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	319					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGCCACTAACGCGCTCTGGCT	0.612																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(955-957)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 1							80.0	65.0	70.0					12																	58022541		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022541G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.957C>T	12.37:g.58022541G>A						B4GALNT1_ENST00000449184.3_Silent_p.R286R|B4GALNT1_ENST00000418555.2_Silent_p.R264R	p.R319R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	1541	-	Melanoma(17;0.122)		319					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.957C>T	CCDS8950.1																																																																																				0.612	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		4	37	0	0	0	1	0	4	37				
ZNF429	353088	broad.mit.edu	37	19	21720457	21720457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21720457G>A	ENST00000358491.4	+	4	1810	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E534D(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATACTGGAGAGAAACCTTACA	0.363																																						ENST00000358491.4																			1	Substitution - Missense(1)	p.E534D(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1600-1602)gaG>gaA		zinc finger protein 429							40.0	44.0	43.0					19																	21720457		2129	4262	6391	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720457G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1602G>A	19.37:g.21720457G>A						ZNF429_ENST00000597078.1_Intron	p.E534E	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1810	+			534					A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.1602G>A	CCDS42537.1																																																																																				0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		19	26	0	0	0	1	0	19	26				
IQGAP2	10788	broad.mit.edu	37	5	75902110	75902110	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75902110A>G	ENST00000274364.6	+	12	1636	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	IQGAP2_ENST00000502745.1_5'Flank|IQGAP2_ENST00000379730.3_Missense_Mutation_p.I6V|IQGAP2_ENST00000396234.3_5'Flank|CTD-2236F14.1_ENST00000511327.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	447					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATGCTCAAATTCAAGAAGA	0.348																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1339-1341)Att>Gtt		IQ motif containing GTPase activating protein 2							87.0	86.0	87.0					5																	75902110		2203	4298	6501	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75902110A>G	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1339A>G	5.37:g.75902110A>G	ENSP00000274364:p.Ile447Val					IQGAP2_ENST00000379730.3_Missense_Mutation_p.I6V	p.I447V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	12	1636	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	447					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.1339A>G	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	0.877	-0.729997	0.03135	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.58	4.43	0.53597	.	0.057848	0.64402	D	0.000002	T	0.03263	0.0095	N	0.25890	0.77	0.38533	D	0.949019	B	0.02656	0.0	B	0.09377	0.004	T	0.31806	-0.9930	10	0.07030	T	0.85	-18.9423	8.8559	0.35227	0.8562:0.0:0.1438:0.0	.	447	Q13576	IQGA2_HUMAN	V	447;6;420;397	ENSP00000274364:I447V;ENSP00000442313:I6V;ENSP00000423672:I420V;ENSP00000421097:I397V	ENSP00000274364:I447V	I	+	1	0	IQGAP2	75937866	1.000000	0.71417	0.889000	0.34880	0.830000	0.47004	3.742000	0.55097	2.108000	0.64289	0.528000	0.53228	ATT		0.348	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		16	23	0	0	0	1	0	16	23				
SULF1	23213	broad.mit.edu	37	8	70514019	70514019	+	Missense_Mutation	SNP	G	G	A	rs61747207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70514019G>A	ENST00000260128.4	+	10	1733	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.R339H|SULF1_ENST00000419716.3_Missense_Mutation_p.R339H|SULF1_ENST00000402687.4_Missense_Mutation_p.R339H	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R339H(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTGATATTCGTGTGCCTTTT	0.423																																						ENST00000260128.4																			1	Substitution - Missense(1)	p.R339H(1)	lung(1)	breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1015-1017)cGt>cAt		sulfatase 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	404.0	349.0	368.0		1016,1016,1016,1016	6.2	1.0	8	dbSNP_129	368	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	29,29,29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	339/872,339/872,339/872,339/872	70514019	4,13002	2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514019G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1016G>A	8.37:g.70514019G>A	ENSP00000260128:p.Arg339His					SULF1_ENST00000458141.2_Missense_Mutation_p.R339H|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R339H|SULF1_ENST00000402687.4_Missense_Mutation_p.R339H	p.R339H	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1733	+	Breast(64;0.0654)		339					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1016G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017245	0.97205	0.0	4.65E-4	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.74467	2.265	0.80722	D	1	P	0.51057	0.941	P	0.52646	0.705	D	0.98455	1.0593	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	rs61747207	339	Q8IWU6	SULF1_HUMAN	H	339	ENSP00000403040:R339H;ENSP00000260128:R339H;ENSP00000385704:R339H;ENSP00000390315:R339H	ENSP00000260128:R339H	R	+	2	0	SULF1	70676573	1.000000	0.71417	0.975000	0.42487	0.980000	0.70556	9.808000	0.99193	2.937000	0.99478	0.650000	0.86243	CGT		0.423	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		10	208	0	0	0	1	0	10	208				
PEX16	9409	broad.mit.edu	37	11	45937384	45937384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45937384G>T	ENST00000378750.5	-	4	472	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	PEX16_ENST00000532554.1_Intron|PEX16_ENST00000532681.1_De_novo_Start_InFrame|PEX16_ENST00000241041.3_Missense_Mutation_p.L77M			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	77	Required for peroxisomal location.				ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCTGGGACAGCGACTGCAAG	0.612																																						ENST00000532681.1																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7								peroxisomal biogenesis factor 16							114.0	120.0	118.0					11																	45937384		2203	4299	6502	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45937384G>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.229C>A	11.37:g.45937384G>T	ENSP00000368024:p.Leu77Met					PEX16_ENST00000241041.3_Missense_Mutation_p.L77M|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000378750.5_Missense_Mutation_p.L77M				Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	0	807	-								Q9BWB9	Translation_Start_Site	SNP	ENST00000378750.5	37		CCDS31472.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773733	0.49786	.	.	ENSG00000121680	ENST00000241041;ENST00000378750	T;T	0.22336	1.96;1.96	4.99	4.99	0.66335	.	0.461241	0.21946	N	0.066802	T	0.32615	0.0835	L	0.57536	1.79	0.80722	D	1	P;P	0.51147	0.942;0.928	P;P	0.55222	0.771;0.748	T	0.01743	-1.1283	10	0.46703	T	0.11	-18.3164	9.1856	0.37168	0.164:0.0:0.8359:0.0	.	77;77	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	M	77	ENSP00000241041:L77M;ENSP00000368024:L77M	ENSP00000241041:L77M	L	-	1	2	PEX16	45893960	0.973000	0.33851	0.996000	0.52242	0.978000	0.69477	1.661000	0.37408	2.480000	0.83734	0.561000	0.74099	CTG		0.612	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		55	94	1	0	7.47603e-22	1	9.8545e-22	55	94				
ZNF354B	117608	broad.mit.edu	37	5	178310185	178310185	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310185T>C	ENST00000322434.3	+	5	958	c.732T>C	c.(730-732)tgT>tgC	p.C244C	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTAAATGTAAAGAATGTT	0.333																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(730-732)tgT>tgC		zinc finger protein 354B							67.0	78.0	74.0					5																	178310185		2203	4290	6493	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310185T>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.732T>C	5.37:g.178310185T>C							p.C244C	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	958	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	244					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.732T>C	CCDS4439.1																																																																																				0.333	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		69	98	0	0	0	1	0	69	98				
KCNK15	60598	broad.mit.edu	37	20	43374622	43374622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43374622C>A	ENST00000372861.3	+	1	202	c.71C>A	c.(70-72)gCt>gAt	p.A24D	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	24					regulation of ion transmembrane transport (GO:0034765)	integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTGGGCGCTGCTGTCTTCGAC	0.736																																						ENST00000372861.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(70-72)gCt>gAt		potassium channel, subfamily K, member 15							11.0	18.0	15.0					20																	43374622		2169	4246	6415	SO:0001583	missense	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43374622C>A	AF257081	CCDS13337.1	20q13.12	2012-03-07			ENSG00000124249	ENSG00000124249		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	13814	protein-coding gene	gene with protein product		607368		KCNK11, KCNK14		11409881, 11431495, 16382106	Standard	NM_022358		Approved	K2p15.1, dJ781B1.1, KT3.3, KIAA0237, TASK5, TASK-5	uc002xmr.3	Q9H427	OTTHUMG00000032544	ENST00000372861.3:c.71C>A	20.37:g.43374622C>A	ENSP00000361952:p.Ala24Asp					RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA	p.A24D	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN			1	202	+		Myeloproliferative disorder(115;0.0122)	24					Q52LL3|Q9HBC8	Missense_Mutation	SNP	ENST00000372861.3	37	c.71C>A	CCDS13337.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262679	0.80358	.	.	ENSG00000124249	ENST00000372861	T	0.15952	2.38	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.63139	-0.6704	10	0.87932	D	0	.	14.9332	0.70933	0.0:1.0:0.0:0.0	.	24	Q9H427	KCNKF_HUMAN	D	24	ENSP00000361952:A24D	ENSP00000361952:A24D	A	+	2	0	KCNK15	42808036	0.999000	0.42202	0.963000	0.40424	0.599000	0.36880	4.296000	0.59055	2.076000	0.62316	0.557000	0.71058	GCT		0.736	KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079378.2	NM_022358		5	4	1	0	0.0215528	1	0.0221649	5	4				
PFKFB1	5207	broad.mit.edu	37	X	54984796	54984796	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54984796C>A	ENST00000375006.3	-	6	530		c.e6-1		PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Splice_Site	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1						carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGAAAAACACCTATAAAAGAA	0.408																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.e6-1		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							94.0	83.0	87.0					X																	54984796		2203	4300	6503	SO:0001630	splice_region_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54984796C>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.460-1G>T	X.37:g.54984796C>A						PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Splice_Site		NM_002625.2	NP_002616.2	P16118	F261_HUMAN			6	530	-								B2RA88|B4DUN5|Q5JXS5|Q99951	Splice_Site	SNP	ENST00000375006.3	37		CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904709	0.72868	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9862	0.71351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PFKFB1	55001521	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	7.556000	0.82233	1.970000	0.57323	0.600000	0.82982	.		0.408	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		Intron	16	37	1	0	4.14922e-12	1	5.2041e-12	16	37				
COL12A1	1303	broad.mit.edu	37	6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T	rs201408175		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15140	0.0		0.0	False		,,,				2504	0.0					ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5467-5469)Gta>Ata		collagen, type XII, alpha 1		C	ILE/VAL,ILE/VAL	0,3924		0,0,1962	134.0	136.0	135.0		5467,1975	5.0	0.9	6		135	3,8305		0,3,4151	yes	missense,missense	COL12A1	NM_004370.5,NM_080645.2	29,29	0,3,6113	TT,TC,CC		0.0361,0.0,0.0245	possibly-damaging,possibly-damaging	1823/3064,659/1900	75844499	3,12229	1962	4154	6116	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844499C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5467G>A	6.37:g.75844499C>T	ENSP00000325146:p.Val1823Ile					COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I	p.V1823I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5776	-			1823			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5467G>A	CCDS43482.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	23.7|23.7	4.444654|4.444654	0.83993|0.83993	0.0|0.0	3.61E-4|3.61E-4	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51	5.87|5.87	5.0|5.0	0.66597|0.66597	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.73410|0.73410	0.3583|0.3583	L|L	0.52905|0.52905	1.665|1.665	0.42919|0.42919	D|D	0.994285|0.994285	.|D;D	.|0.76494	.|0.997;0.999	.|P;P	.|0.60541	.|0.779;0.876	T|T	0.76033|0.76033	-0.3107|-0.3107	5|10	.|0.49607	.|T	.|0.09	.|.	17.0718|17.0718	0.86576|0.86576	0.0:0.873:0.127:0.0|0.0:0.873:0.127:0.0	.|.	.|659;1823	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	H|I	557|1823;1823;659;1823;1823	.|ENSP00000325146:V1823I;ENSP00000305147:V659I;ENSP00000412864:V1823I;ENSP00000421216:V1823I	.|ENSP00000325146:V1823I	R|V	-|-	2|1	0|0	COL12A1|COL12A1	75901219|75901219	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.551000|0.551000	0.35334|0.35334	7.294000|7.294000	0.78760|0.78760	1.472000|1.472000	0.48140|0.48140	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		24	56	0	0	0	1	0	24	56				
EVPL	2125	broad.mit.edu	37	17	74003886	74003886	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74003886C>T	ENST00000301607.3	-	22	5653	c.5400G>A	c.(5398-5400)ccG>ccA	p.P1800P	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.P1822P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1800	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGAGGCGAGCGGGGACTTGG	0.607																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5398-5400)ccG>ccA		envoplakin							80.0	89.0	86.0					17																	74003886		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003886C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5400G>A	17.37:g.74003886C>T						EVPL_ENST00000586740.1_Silent_p.P1822P	p.P1800P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5653	-			1800			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5400G>A	CCDS11737.1																																																																																				0.607	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	70	0	0	0	1	0	5	70				
CCDC137	339230	broad.mit.edu	37	17	79638824	79638824	+	Missense_Mutation	SNP	C	C	T	rs79563828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79638824C>T	ENST00000329214.8	+	4	951	c.548C>T	c.(547-549)gCg>gTg	p.A183V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	183							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGGAAAAGGCGGCAGACAGG	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		18442	0.002		0.0	False		,,,				2504	0.0					ENST00000329214.8																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12						c.(547-549)gCg>gTg		coiled-coil domain containing 137							52.0	59.0	57.0					17																	79638824		2007	4169	6176	SO:0001583	missense	339230							g.chr17:79638824C>T	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.548C>T	17.37:g.79638824C>T	ENSP00000329360:p.Ala183Val						p.A183V	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		4	951	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		183						Missense_Mutation	SNP	ENST00000329214.8	37	c.548C>T	CCDS42400.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	C	15.04	2.715665	0.48622	.	.	ENSG00000185298	ENST00000329214	D	0.90504	-2.68	5.12	4.14	0.48551	.	0.402818	0.25903	N	0.027543	D	0.91942	0.7448	L	0.58669	1.825	0.25590	N	0.98671	D	0.89917	1.0	D	0.64144	0.922	D	0.84288	0.0498	10	0.46703	T	0.11	-6.4307	6.6408	0.22909	0.2812:0.6296:0.0:0.0892	.	183	Q6PK04	CC137_HUMAN	V	183	ENSP00000329360:A183V	ENSP00000329360:A183V	A	+	2	0	CCDC137	77249229	0.833000	0.29383	0.070000	0.20053	0.311000	0.27955	1.310000	0.33551	1.135000	0.42183	0.655000	0.94253	GCG		0.567	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			9	21	0	0	0	1	0	9	21				
CES5A	221223	broad.mit.edu	37	16	55907780	55907780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55907780C>T	ENST00000290567.9	-	2	364	c.243G>A	c.(241-243)tgG>tgA	p.W81*	CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000319165.9_Nonsense_Mutation_p.W81*|CES5A_ENST00000520435.1_Nonsense_Mutation_p.W81*|CES5A_ENST00000521992.1_Nonsense_Mutation_p.W110*|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	81						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCAAGTTATCCCAGGGCGATG	0.592																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(328-330)tgG>tgA		carboxylesterase 5A							66.0	63.0	64.0					16																	55907780		2198	4300	6498	SO:0001587	stop_gained	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55907780C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.243G>A	16.37:g.55907780C>T	ENSP00000290567:p.Trp81*					CES5A_ENST00000520435.1_Nonsense_Mutation_p.W81*|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000319165.9_Nonsense_Mutation_p.W81*|CES5A_ENST00000290567.9_Nonsense_Mutation_p.W81*	p.W110*	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			3	475	-			81					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Nonsense_Mutation	SNP	ENST00000290567.9	37	c.330G>A	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	C	35	5.534322	0.96460	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000290567;ENST00000520435	.	.	.	5.7	5.7	0.88788	.	0.401392	0.19960	N	0.102221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7138	0.88330	0.0:1.0:0.0:0.0	.	.	.	.	X	110;81;81;81	.	ENSP00000290567:W81X	W	-	3	0	CES5A	54465281	1.000000	0.71417	0.476000	0.27291	0.086000	0.17979	6.059000	0.71133	2.861000	0.98227	0.655000	0.94253	TGG		0.592	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		11	18	0	0	0	1	0	11	18				
STRIP2	57464	broad.mit.edu	37	7	129125492	129125492	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129125492G>T	ENST00000249344.2	+	21	2367	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I	RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	776					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GCTTTTAACAGCCGTCGCTAT	0.502																																						ENST00000249344.2																			0											c.(2326-2328)aGc>aTc		striatin interacting protein 2							99.0	90.0	93.0					7																	129125492		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129125492G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2327G>T	7.37:g.129125492G>T	ENSP00000249344:p.Ser776Ile						p.S776I	NM_020704.2	NP_065755.1					21	2367	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.2327G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027725	0.75390	.	.	ENSG00000128578	ENST00000249344	T	0.44482	0.92	5.89	5.89	0.94794	.	0.043298	0.85682	D	0.000000	T	0.47414	0.1444	L	0.43152	1.355	0.80722	D	1	P	0.49307	0.922	P	0.49953	0.627	T	0.11966	-1.0566	10	0.21540	T	0.41	-23.4193	19.2409	0.93883	0.0:0.0:1.0:0.0	.	776	Q9ULQ0	FA40B_HUMAN	I	776	ENSP00000249344:S776I	ENSP00000249344:S776I	S	+	2	0	FAM40B	128912728	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.094000	0.50227	2.788000	0.95919	0.557000	0.71058	AGC		0.502	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		24	71	1	0	1.17739e-12	1	1.48344e-12	24	71				
VWA3A	146177	broad.mit.edu	37	16	22134955	22134955	+	Missense_Mutation	SNP	C	C	T	rs202091597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22134955C>T	ENST00000389398.5	+	16	1555	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	487						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGAGCTATGCGGATGTATGA	0.547																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1459-1461)Cgg>Tgg		von Willebrand factor A domain containing 3A							107.0	108.0	108.0					16																	22134955		1991	4165	6156	SO:0001583	missense	146177					extracellular region		g.chr16:22134955C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1459C>T	16.37:g.22134955C>T	ENSP00000374049:p.Arg487Trp					VWA3A_ENST00000389397.4_5'UTR	p.R487W	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	16	1555	+			487					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1459C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518516	0.44763	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.13196	2.61	5.83	3.75	0.43078	.	0.258235	0.30011	N	0.010637	T	0.29749	0.0743	M	0.64997	1.995	0.43930	D	0.99658	D;D	0.89917	0.998;1.0	P;P	0.62184	0.794;0.899	T	0.03750	-1.1007	10	0.72032	D	0.01	.	12.091	0.53726	0.4814:0.5186:0.0:0.0	.	487;111	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	W	487;110	ENSP00000374049:R487W	ENSP00000299840:R110W	R	+	1	2	VWA3A	22042456	0.971000	0.33674	0.571000	0.28486	0.047000	0.14425	2.002000	0.40835	1.450000	0.47717	0.563000	0.77884	CGG		0.547	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			45	79	0	0	0	1	0	45	79				
FBXO24	26261	broad.mit.edu	37	7	100198336	100198336	+	Silent	SNP	C	C	T	rs139735860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100198336C>T	ENST00000241071.6	+	10	1879	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	FBXO24_ENST00000427939.2_Silent_p.C557C|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Silent_p.C507C|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	519					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAGGCCTGCGAGGAGTACC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17406	0.0		0.0	False		,,,				2504	0.0					ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1555-1557)tgC>tgT		F-box protein 24		C	,,	2,4404	4.2+/-10.8	0,2,2201	57.0	52.0	54.0		1521,1671,1557	-1.0	1.0	7	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FBXO24	NM_001163499.1,NM_012172.4,NM_033506.2	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	507/569,557/619,519/581	100198336	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198336C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1557C>T	7.37:g.100198336C>T						PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C557C|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Silent_p.C507C	p.C519C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			10	1879	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		519					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.1557C>T	CCDS5698.1																																																																																				0.667	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			32	23	0	0	0	1	0	32	23				
ALG10	84920	broad.mit.edu	37	12	34178815	34178815	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:34178815G>A	ENST00000266483.2	+	3	706	c.387G>A	c.(385-387)caG>caA	p.Q129Q	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	129					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAAGTATCCAGAGAGTCTTGT	0.303																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(385-387)caG>caA		ALG10, alpha-1,2-glucosyltransferase							78.0	79.0	79.0					12																	34178815		2203	4298	6501	SO:0001819	synonymous_variant	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34178815G>A	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.387G>A	12.37:g.34178815G>A						ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.Q129Q	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			3	706	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	129					Q6NS98|Q96DU0|Q96SM6	Silent	SNP	ENST00000266483.2	37	c.387G>A	CCDS41769.1																																																																																				0.303	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		44	65	0	0	0	1	0	44	65				
TRMT1L	81627	broad.mit.edu	37	1	185089377	185089377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185089377G>T	ENST00000367506.5	-	15	2244	c.1976C>A	c.(1975-1977)tCt>tAt	p.S659Y	TRMT1L_ENST00000465827.1_5'UTR|TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	659	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCTGCTTGAGATAAATAGCA	0.323																																						ENST00000367506.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1975-1977)tCt>tAt		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							84.0	89.0	87.0					1																	185089377		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185089377G>T	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1976C>A	1.37:g.185089377G>T	ENSP00000356476:p.Ser659Tyr					TRMT1L_ENST00000465827.1_5'UTR|TRMT1L_ENST00000367504.3_3'UTR	p.S659Y	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN			15	2244	-			659					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.1976C>A	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002893	0.93287	.	.	ENSG00000121486	ENST00000367506	.	.	.	6.08	6.08	0.98989	.	0.231906	0.46145	D	0.000318	T	0.69806	0.3152	L	0.54323	1.7	0.80722	D	1	D	0.56287	0.975	P	0.58077	0.832	T	0.61855	-0.6977	9	0.02654	T	1	-14.2631	20.6634	0.99662	0.0:0.0:1.0:0.0	.	659	Q7Z2T5	TRM1L_HUMAN	Y	659	.	ENSP00000356476:S659Y	S	-	2	0	TRMT1L	183356000	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.317000	0.96327	2.894000	0.99253	0.655000	0.94253	TCT		0.323	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		14	167	1	0	1.5842e-08	1	1.90059e-08	14	167				
PCDHB10	56126	broad.mit.edu	37	5	140574228	140574228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140574228G>A	ENST00000239446.4	+	1	2287	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	701					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGTCTTCGCTCTTCCTCC	0.706																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2101-2103)tcG>tcA									33.0	43.0	40.0					5																	140574228		2149	4161	6310	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574228G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2103G>A	5.37:g.140574228G>A							p.S701S	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2287	+			701					Q96T99	Silent	SNP	ENST00000239446.4	37	c.2103G>A	CCDS4252.1																																																																																				0.706	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		45	67	0	0	0	1	0	45	67				
GPR158	57512	broad.mit.edu	37	10	25878043	25878043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25878043C>T	ENST00000376351.3	+	8	2220	c.1861C>T	c.(1861-1863)Ctc>Ttc	p.L621F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	621				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3). {ECO:0000305}.	protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCACAATGAGCTCATCATCTC	0.398																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(1861-1863)Ctc>Ttc		G protein-coupled receptor 158							102.0	97.0	99.0					10																	25878043		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25878043C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1861C>T	10.37:g.25878043C>T	ENSP00000365529:p.Leu621Phe						p.L621F	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			8	2220	+			621	ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).				Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1861C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441060	0.83993	.	.	ENSG00000151025	ENST00000376351	D	0.88046	-2.33	4.76	4.76	0.60689	GPCR, family 3, C-terminal (2);	0.000000	0.56097	D	0.000035	D	0.90995	0.7168	L	0.43923	1.385	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90904	0.4771	10	0.45353	T	0.12	.	18.1492	0.89669	0.0:1.0:0.0:0.0	.	621	Q5T848	GP158_HUMAN	F	621	ENSP00000365529:L621F	ENSP00000365529:L621F	L	+	1	0	GPR158	25918049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.721000	0.68477	2.359000	0.80004	0.650000	0.86243	CTC		0.398	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		16	42	0	0	0	1	0	16	42				
CNOT4	4850	broad.mit.edu	37	7	135082964	135082964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135082964G>T	ENST00000315544.5	-	8	1115	c.836C>A	c.(835-837)cCt>cAt	p.P279H	CNOT4_ENST00000541284.1_Missense_Mutation_p.P279H|CNOT4_ENST00000423368.2_Missense_Mutation_p.P279H|CNOT4_ENST00000428680.2_Missense_Mutation_p.P276H|CNOT4_ENST00000356162.4_Missense_Mutation_p.P279H|CNOT4_ENST00000361528.4_Missense_Mutation_p.P276H|CNOT4_ENST00000414802.1_Missense_Mutation_p.P279H|CNOT4_ENST00000451834.1_Missense_Mutation_p.P276H	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	279					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGAATCTGAAGGTTTGTCAAT	0.323																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(826-828)cCt>cAt		CCR4-NOT transcription complex, subunit 4							93.0	85.0	88.0					7																	135082964		1796	4070	5866	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135082964G>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.836C>A	7.37:g.135082964G>T	ENSP00000326731:p.Pro279His					CNOT4_ENST00000423368.2_Missense_Mutation_p.P279H|CNOT4_ENST00000451834.1_Missense_Mutation_p.P276H|CNOT4_ENST00000541284.1_Missense_Mutation_p.P279H|CNOT4_ENST00000315544.5_Missense_Mutation_p.P279H|CNOT4_ENST00000356162.4_Missense_Mutation_p.P279H|CNOT4_ENST00000361528.4_Missense_Mutation_p.P276H|CNOT4_ENST00000414802.1_Missense_Mutation_p.P279H	p.P276H	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			8	1106	-			279					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.827C>A	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306438	0.81247	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.22	5.22	0.72569	.	0.097548	0.64402	D	0.000001	T	0.43590	0.1254	N	0.24115	0.695	0.51767	D	0.999934	P;P;P;P;P;D	0.58268	0.832;0.895;0.926;0.956;0.743;0.982	B;P;B;P;P;P	0.47915	0.308;0.505;0.308;0.505;0.561;0.548	T	0.40327	-0.9569	10	0.48119	T	0.1	-1.4496	17.7136	0.88328	0.0:0.0:1.0:0.0	.	276;279;279;276;279;276	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	H	279;276;279;279;276;279;279;276;279	ENSP00000445508:P279H;ENSP00000388491:P276H;ENSP00000406777:P279H;ENSP00000354673:P276H;ENSP00000416532:P279H;ENSP00000348485:P279H;ENSP00000399108:P276H;ENSP00000326731:P279H	ENSP00000262563:P279H	P	-	2	0	CNOT4	134733504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.312000	0.78968	2.588000	0.87417	0.650000	0.86243	CCT		0.323	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		9	58	1	0	7.48243e-07	1	8.70085e-07	9	58				
ACVRL1	94	broad.mit.edu	37	12	52314611	52314611	+	Silent	SNP	G	G	A	rs142343727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52314611G>A	ENST00000388922.4	+	10	1729	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	ACVRL1_ENST00000550683.1_Silent_p.A496A|ACVRL1_ENST00000419526.2_Silent_p.A308A	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> V (in HHT2; dbSNP:rs139142865). {ECO:0000269|PubMed:15024723}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GACTCACCGCGCTGCGGATCA	0.557																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1486-1488)gcG>gcA		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)	G	,	1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	58.0		1446,1446	-7.9	0.1	12	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACVRL1	NM_000020.2,NM_001077401.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	482/504,482/504	52314611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52314611G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1446G>A	12.37:g.52314611G>A						ACVRL1_ENST00000388922.4_Silent_p.A482A|ACVRL1_ENST00000419526.2_Silent_p.A308A	p.A496A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	9	1589	+			482					A6NGA8	Silent	SNP	ENST00000388922.4	37	c.1488G>A	CCDS31804.1																																																																																				0.557	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			13	21	0	0	0	1	0	13	21				
CDH5	1003	broad.mit.edu	37	16	66436740	66436740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66436740C>T	ENST00000341529.3	+	12	2171	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	CDH5_ENST00000539168.1_Missense_Mutation_p.R114W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	675					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	caagcccccgcggcccgcgcT	0.726																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2023-2025)Cgg>Tgg		cadherin 5, type 2 (vascular endothelium)							11.0	16.0	14.0					16																	66436740		2151	4110	6261	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436740C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2023C>T	16.37:g.66436740C>T	ENSP00000344115:p.Arg675Trp					CDH5_ENST00000539168.1_Missense_Mutation_p.R114W	p.R675W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2171	+		Ovarian(137;0.0955)	675					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.2023C>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221159	0.58560	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.77620	-1.11;-1.11	5.28	4.27	0.50696	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.85639	0.5743	M	0.76002	2.32	0.09310	N	0.999998	D	0.89917	1.0	D	0.68483	0.958	T	0.75436	-0.3318	9	0.59425	D	0.04	.	9.9022	0.41355	0.3403:0.6597:0.0:0.0	.	675	P33151	CADH5_HUMAN	W	675;560;416;114	ENSP00000344115:R675W;ENSP00000461880:R114W	ENSP00000344115:R675W	R	+	1	2	CDH5	64994241	0.012000	0.17670	0.058000	0.19502	0.659000	0.38960	0.638000	0.24674	2.477000	0.83638	0.456000	0.33151	CGG		0.726	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		6	7	0	0	0	1	0	6	7				
SMAD9	4093	broad.mit.edu	37	13	37439705	37439705	+	Silent	SNP	C	C	T	rs561479397		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439705C>T	ENST00000399275.2	-	4	1111	c.972G>A	c.(970-972)acG>acA	p.T324T	SMAD9_ENST00000350148.5_Silent_p.T287T|SMAD9_ENST00000379826.4_Silent_p.T324T			O15198	SMAD9_HUMAN	SMAD family member 9	324	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTTTCTATCGTTGAGTTTC	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21591	0.0		0.0	False		,,,				2504	0.0					ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(970-972)acG>acA		SMAD family member 9							111.0	103.0	106.0					13																	37439705		2203	4300	6503	SO:0001819	synonymous_variant	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37439705C>T		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.972G>A	13.37:g.37439705C>T						SMAD9_ENST00000350148.5_Silent_p.T287T|SMAD9_ENST00000399275.2_Silent_p.T324T	p.T324T	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	5	1314	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	324			MH2.		A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	c.972G>A	CCDS45032.1																																																																																				0.408	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		20	56	0	0	0	1	0	20	56				
ITGA8	8516	broad.mit.edu	37	10	15726032	15726032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726032G>A	ENST00000378076.3	-	4	892	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	180					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTCGGCATAGGCGCTGAAGTT	0.463																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(538-540)gCc>gTc		integrin, alpha 8							105.0	105.0	105.0					10																	15726032		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15726032G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.539C>T	10.37:g.15726032G>A	ENSP00000367316:p.Ala180Val						p.A180V	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			4	892	-			180					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.539C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711993	0.89112	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.54866	0.55	5.79	5.79	0.91817	.	0.047085	0.85682	D	0.000000	T	0.65512	0.2698	L	0.53249	1.67	0.58432	D	0.999998	D;D	0.57257	0.979;0.965	P;P	0.58820	0.846;0.706	T	0.57142	-0.7862	10	0.23891	T	0.37	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	180;180	F5H818;P53708	.;ITA8_HUMAN	V	180	ENSP00000367316:A180V	ENSP00000367316:A180V	A	-	2	0	ITGA8	15766038	1.000000	0.71417	0.925000	0.36789	0.958000	0.62258	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	GCC		0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		32	36	0	0	0	1	0	32	36				
PRDM10	56980	broad.mit.edu	37	11	129805097	129805097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129805097C>A	ENST00000360871.3	-	9	1287	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	PRDM10_ENST00000528746.1_Missense_Mutation_p.E326D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E266D|PRDM10_ENST00000358825.5_Missense_Mutation_p.E352D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E266D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E266D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCCAATTCTTCTCTTGCTCTC	0.428																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1054-1056)gaG>gaT		PR domain containing 10							113.0	109.0	111.0					11																	129805097		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129805097C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1056G>T	11.37:g.129805097C>A	ENSP00000354118:p.Glu352Asp					PRDM10_ENST00000304538.6_Missense_Mutation_p.E266D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E352D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E266D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E266D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E326D	p.E352D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	9	1287	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	352					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1056G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	c	17.81	3.480744	0.63849	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.12039	2.72;2.75;2.73;2.72;2.79;2.72;2.81	5.11	5.11	0.69529	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.51422	1.61	0.54753	D	0.999983	D;P;D;D;D;P;D	0.67145	0.994;0.734;0.99;0.994;0.996;0.518;0.99	D;B;D;D;D;B;D	0.76071	0.97;0.391;0.98;0.97;0.987;0.303;0.98	T	0.00912	-1.1517	10	0.66056	D	0.02	-36.3798	11.5726	0.50843	0.0:0.8689:0.0:0.1311	.	266;352;352;352;266;266;266	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	D	352;266;352;266;326;266;69	ENSP00000351686:E352D;ENSP00000302669:E266D;ENSP00000354118:E352D;ENSP00000398431:E266D;ENSP00000431262:E326D;ENSP00000432237:E266D;ENSP00000435940:E69D	ENSP00000302669:E266D	E	-	3	2	PRDM10	129310307	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.127000	0.50484	2.401000	0.81631	0.486000	0.48141	GAG		0.428	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		9	101	1	0	1.08611e-07	1	1.2824e-07	9	101				
EPHA2	1969	broad.mit.edu	37	1	16456915	16456915	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16456915C>A	ENST00000358432.5	-	15	2630		c.e15-1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTTTCATCACCTGGCGGGGCA	0.632																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.e15-1		EPH receptor A2	Dasatinib(DB01254)						34.0	36.0	35.0					1																	16456915		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456915C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2476-1G>T	1.37:g.16456915C>A								NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	15	2630	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37		CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696354	0.68386	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.516	0.90936	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA2	16329502	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.058000	0.71126	2.725000	0.93324	0.655000	0.94253	.		0.632	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Intron	5	33	1	0	0.014758	1	0.0152625	5	33				
F5	2153	broad.mit.edu	37	1	169495202	169495202	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169495202T>G	ENST00000367797.3	-	18	5854	c.5653A>C	c.(5653-5655)Aac>Cac	p.N1885H	F5_ENST00000367796.3_Missense_Mutation_p.N1890H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1885	F5/8 type A 3.|Plastocyanin-like 6.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACCTCTGTGTTTAGGAGCCAC	0.383																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5668-5670)Aac>Cac		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						167.0	161.0	164.0					1																	169495202		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169495202T>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5653A>C	1.37:g.169495202T>G	ENSP00000356771:p.Asn1885His					F5_ENST00000367797.3_Missense_Mutation_p.N1885H	p.N1890H			P12259	FA5_HUMAN			18	5869	-	all_hematologic(923;0.208)		1885			F5/8 type A 3.|Plastocyanin-like 6.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5668A>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938028	0.73557	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99607	-6.27;-6.27	5.81	1.76	0.24704	Cupredoxin (2);	0.307903	0.39210	N	0.001436	D	0.92899	0.7741	N	0.00608	-1.33	0.22389	N	0.999148	P	0.50819	0.939	P	0.48873	0.593	D	0.93639	0.6963	9	0.20519	T	0.43	-4.3792	5.8185	0.18514	0.1354:0.6423:0.0:0.2223	.	1885	P12259	FA5_HUMAN	H	1885;1890	ENSP00000356771:N1885H;ENSP00000356770:N1890H	ENSP00000356770:N1890H	N	-	1	0	F5	167761826	0.989000	0.36119	0.982000	0.44146	0.996000	0.88848	1.301000	0.33447	0.055000	0.16094	0.533000	0.62120	AAC		0.383	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		13	164	0	0	0	1	0	13	164				
SCN4A	6329	broad.mit.edu	37	17	62018424	62018424	+	Missense_Mutation	SNP	G	G	A	rs373804267		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62018424G>A	ENST00000435607.1	-	24	5294	c.5218C>T	c.(5218-5220)Cgg>Tgg	p.R1740W	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1740W	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1740	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)	AGCAGGTGCCGGCGGTAGGCC	0.642																																						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.(5218-5220)Cgg>Tgg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)	G	TRP/ARG	0,4270		0,0,2135	93.0	98.0	96.0		5218	4.0	1.0	17		96	1,8457		0,1,4228	no	missense	SCN4A	NM_000334.4	101	0,1,6363	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	1740/1837	62018424	1,12727	2135	4229	6364	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018424G>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.5218C>T	17.37:g.62018424G>A	ENSP00000396320:p.Arg1740Trp					SCN4A_ENST00000578147.1_Missense_Mutation_p.R1740W	p.R1740W	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			24	5294	-			1740			IQ.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.5218C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466964	0.63625	0.0	1.18E-4	ENSG00000007314	ENST00000435607	D	0.96554	-4.05	4.04	4.04	0.47022	.	0.101356	0.64402	D	0.000004	D	0.97754	0.9263	M	0.86740	2.835	0.44702	D	0.997691	D	0.89917	1.0	D	0.69142	0.962	D	0.97789	1.0237	10	0.87932	D	0	.	9.7277	0.40342	0.0:0.0:0.6729:0.3271	.	1740	P35499	SCN4A_HUMAN	W	1740	ENSP00000396320:R1740W	ENSP00000396320:R1740W	R	-	1	2	SCN4A	59372156	0.760000	0.28428	1.000000	0.80357	0.995000	0.86356	1.277000	0.33167	2.258000	0.74832	0.561000	0.74099	CGG		0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		34	47	0	0	0	1	0	34	47				
FLG	2312	broad.mit.edu	37	1	152279721	152279721	+	Silent	SNP	C	C	T	rs12081090	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152279721C>T	ENST00000368799.1	-	3	7676	c.7641G>A	c.(7639-7641)tcG>tcA	p.S2547S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2547	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCACCTGCGAGTGTCCAG	0.582									Ichthyosis				c|||	12	0.00239617	0.0091	0.0	5008	,	,		19180	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7639-7641)tcG>tcA		filaggrin							194.0	216.0	209.0					1																	152279721		2200	4300	6500	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279721C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7641G>A	1.37:g.152279721C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2547S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7676	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2547			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7641G>A	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		104	172	0	0	0	1	0	104	172				
KLHL38	340359	broad.mit.edu	37	8	124658070	124658070	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124658070G>T	ENST00000325995.7	-	3	1678	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	552										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGATGTCCAGGTGTCCGTCTC	0.612																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1654-1656)aCc>aAc		kelch-like family member 38							104.0	117.0	113.0					8																	124658070		2113	4236	6349	SO:0001583	missense	340359							g.chr8:124658070G>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1655C>A	8.37:g.124658070G>T	ENSP00000321475:p.Thr552Asn					CTD-2552K11.2_ENST00000524355.1_RNA	p.T552N	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			3	1678	-			552					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1655C>A	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560992	0.65538	.	.	ENSG00000175946	ENST00000325995	T	0.80214	-1.35	4.9	3.99	0.46301	Kelch-type beta propeller (1);	0.403753	0.29342	N	0.012427	D	0.88709	0.6510	M	0.88842	2.985	0.29668	N	0.842725	D	0.54397	0.966	P	0.58620	0.842	D	0.85247	0.1042	10	0.30078	T	0.28	.	15.2163	0.73270	0.0:0.1407:0.8593:0.0	.	552	Q2WGJ6	KLH38_HUMAN	N	552	ENSP00000321475:T552N	ENSP00000321475:T552N	T	-	2	0	KLHL38	124727251	0.995000	0.38212	0.998000	0.56505	0.936000	0.57629	2.357000	0.44125	2.255000	0.74692	0.455000	0.32223	ACC		0.612	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			5	62	1	0	1.6384e-10	1	2.02096e-10	5	62				
KLHL20	27252	broad.mit.edu	37	1	173725148	173725148	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173725148C>A	ENST00000209884.4	+	6	1074	c.938C>A	c.(937-939)cCt>cAt	p.P313H	KLHL20_ENST00000546011.1_Missense_Mutation_p.P124H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	313					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCACGGAAACCTATCCGATGT	0.408																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(937-939)cCt>cAt		kelch-like family member 20							120.0	109.0	113.0					1																	173725148		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173725148C>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.938C>A	1.37:g.173725148C>A	ENSP00000209884:p.Pro313His					KLHL20_ENST00000546011.1_Missense_Mutation_p.P124H	p.P313H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			6	1074	+			313					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.938C>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120110	0.94385	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.70399	-0.21;-0.48	5.41	5.41	0.78517	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	L	0.51422	1.61	0.80722	D	1	D;D	0.64830	0.994;0.987	P;P	0.58391	0.838;0.789	T	0.76116	-0.3077	10	0.62326	D	0.03	.	17.9806	0.89140	0.0:1.0:0.0:0.0	.	124;313	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	H	124;313	ENSP00000443121:P124H;ENSP00000209884:P313H	ENSP00000209884:P313H	P	+	2	0	KLHL20	171991771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.550000	0.82173	2.504000	0.84457	0.655000	0.94253	CCT		0.408	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		8	22	1	0	0.000157383	1	0.00017284	8	22				
DRD3	1814	broad.mit.edu	37	3	113866319	113866319	+	Missense_Mutation	SNP	C	C	T	rs181422088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113866319C>T	ENST00000460779.1	-	5	758	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	DRD3_ENST00000383673.2_Missense_Mutation_p.V157I|DRD3_ENST00000295881.7_Missense_Mutation_p.V157I|DRD3_ENST00000467632.1_Missense_Mutation_p.V157I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	157					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTACCCAGACGGCCGTGATC	0.542													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18471	0.0		0.0	False		,,,				2504	0.0					ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(469-471)Gtc>Atc		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						142.0	122.0	129.0					3																	113866319		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113866319C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.469G>A	3.37:g.113866319C>T	ENSP00000419402:p.Val157Ile					DRD3_ENST00000460779.1_Missense_Mutation_p.V157I|DRD3_ENST00000467632.1_Missense_Mutation_p.V157I|DRD3_ENST00000295881.7_Missense_Mutation_p.V157I	p.V157I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			4	899	-			157					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.469G>A	CCDS2978.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	35	5.561409	0.96527	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.988	D;D;D;P	0.91635	0.999;0.999;0.998;0.889	D	0.85085	0.0948	10	0.87932	D	0	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	157;157;157;157	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	157	ENSP00000419402:V157I;ENSP00000420662:V157I;ENSP00000373169:V157I;ENSP00000295881:V157I	ENSP00000281274:V157I	V	-	1	0	DRD3	115349009	1.000000	0.71417	0.968000	0.41197	0.955000	0.61496	7.609000	0.82925	2.840000	0.97914	0.655000	0.94253	GTC		0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		8	68	0	0	0	1	0	8	68				
MAPKBP1	23005	broad.mit.edu	37	15	42109134	42109134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42109134C>T	ENST00000456763.2	+	15	1826	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R377W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R538W|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R538W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R421W	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	544										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATCGGCGAGCCGGGACCGGCT	0.582																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1612-1614)Cgg>Tgg		mitogen-activated protein kinase binding protein 1							93.0	94.0	94.0					15																	42109134		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109134C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1630C>T	15.37:g.42109134C>T	ENSP00000393099:p.Arg544Trp					MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R421W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R377W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R544W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R538W	p.R538W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	14	1898	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	544					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1612C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.931979	0.73442	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.66638	1.53;1.53;0.98;-0.22;0.98	5.63	3.68	0.42216	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.90252	3.1	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.969;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.999;0.7;1.0;1.0;1.0	D	0.87502	0.2434	10	0.62326	D	0.03	-18.4331	14.4782	0.67562	0.3789:0.6211:0.0:0.0	.	377;421;538;544;538	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	W	538;421;377;544;538	ENSP00000397570:R538W;ENSP00000221214:R421W;ENSP00000260357:R377W;ENSP00000393099:R544W;ENSP00000426154:R538W	ENSP00000221214:R421W	R	+	1	2	MAPKBP1	39896426	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	1.769000	0.38522	1.370000	0.46153	-0.169000	0.13324	CGG		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		40	64	0	0	0	1	0	40	64				
CRY1	1407	broad.mit.edu	37	12	107395629	107395629	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395629T>C	ENST00000008527.5	-	4	1375	c.508A>G	c.(508-510)Att>Gtt	p.I170V		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	170					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCTGAAGTAATTGTCTCTACT	0.413																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(508-510)Att>Gtt		cryptochrome 1 (photolyase-like)							202.0	188.0	192.0					12																	107395629		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107395629T>C	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.508A>G	12.37:g.107395629T>C	ENSP00000008527:p.Ile170Val						p.I170V	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			4	1375	-			170			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.508A>G	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645625	0.29246	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.21	5.21	0.72293	DNA photolyase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	N	0.08118	0	0.58432	D	0.999993	B	0.06786	0.001	B	0.13407	0.009	T	0.24905	-1.0147	9	0.07644	T	0.81	-16.1415	15.3723	0.74573	0.0:0.0:0.0:1.0	.	170	Q16526	CRY1_HUMAN	V	170	.	ENSP00000008527:I170V	I	-	1	0	CRY1	105919759	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	3.302000	0.51849	2.085000	0.62840	0.477000	0.44152	ATT		0.413	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		16	139	0	0	0	1	0	16	139				
SH3RF3	344558	broad.mit.edu	37	2	110065843	110065843	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110065843C>A	ENST00000309415.6	+	8	2046	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	682							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACGTCAGTGCCGCAAACCTCA	0.627																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(2044-2046)gcC>gcA		SH3 domain containing ring finger 3							32.0	39.0	37.0					2																	110065843		2088	4226	6314	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110065843C>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2046C>A	2.37:g.110065843C>A							p.A682A	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			8	2046	+			682					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.2046C>A																																																																																					0.627	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		9	12	1	0	1.12685e-05	1	1.27857e-05	9	12				
ZNF433	163059	broad.mit.edu	37	19	12126905	12126905	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12126905A>C	ENST00000344980.6	-	4	947	c.777T>G	c.(775-777)tgT>tgG	p.C259W	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.C224W|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGCTTTCCCACATTCATTAC	0.408																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(670-672)tgT>tgG		zinc finger protein 433							84.0	85.0	85.0					19																	12126905		2202	4300	6502	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126905A>C	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.777T>G	19.37:g.12126905A>C	ENSP00000339767:p.Cys259Trp					CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.C259W|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	p.C224W			Q8N7K0	ZN433_HUMAN			5	963	-			259					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.672T>G	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170916	0.38315	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	D;D	0.85955	-2.05;-2.05	1.19	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94225	0.8146	H	0.98295	4.195	0.52099	D	0.999945	D	0.89917	1.0	D	0.87578	0.998	D	0.92681	0.6158	9	0.87932	D	0	.	7.8727	0.29576	1.0:0.0:0.0:0.0	.	259	Q8N7K0	ZN433_HUMAN	W	224;259	ENSP00000393416:C224W;ENSP00000339767:C259W	ENSP00000339767:C259W	C	-	3	2	ZNF433	11987905	0.758000	0.28405	0.014000	0.15608	0.065000	0.16274	0.398000	0.20899	0.789000	0.33779	0.254000	0.18369	TGT		0.408	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		4	58	0	0	0	1	0	4	58				
ADAM22	53616	broad.mit.edu	37	7	87822530	87822530	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87822530G>T	ENST00000265727.7	+	30	2755	c.2676G>T	c.(2674-2676)aaG>aaT	p.K892N	ADAM22_ENST00000398204.4_Missense_Mutation_p.K856N|ADAM22_ENST00000398209.3_Missense_Mutation_p.K885N|ADAM22_ENST00000315984.7_Missense_Mutation_p.K885N			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	892					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAGGACAAGAAAGTGAACC	0.428																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2566-2568)aaG>aaT		ADAM metallopeptidase domain 22							71.0	66.0	68.0					7																	87822530		1917	4123	6040	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87822530G>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2676G>T	7.37:g.87822530G>T	ENSP00000265727:p.Lys892Asn					ADAM22_ENST00000398209.3_Missense_Mutation_p.K885N|ADAM22_ENST00000265727.7_Missense_Mutation_p.K892N|ADAM22_ENST00000315984.7_Missense_Mutation_p.K885N	p.K856N	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		29	2891	+	Esophageal squamous(14;0.00202)		892					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2568G>T	CCDS47637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.06|15.06	2.720634|2.720634	0.48728|0.48728	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000413139|ENST00000398204;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000426930	.|T;T;T;T;T	.|0.55930	.|4.18;4.18;3.94;3.93;0.49	5.72|5.72	1.78|1.78	0.24846|0.24846	.|.	.|0.050341	.|0.85682	.|D	.|0.000000	.|T	.|0.37210	.|0.0995	N|N	0.19112|0.19112	0.55|0.55	0.31039|0.31039	N|N	0.716557|0.716557	.|P;B;B	.|0.47545	.|0.897;0.381;0.261	.|P;B;B	.|0.48089	.|0.566;0.046;0.246	.|T	.|0.32481	.|-0.9905	.|10	.|0.27082	.|T	.|0.32	.|.	5.6692|5.6692	0.17713|0.17713	0.3784:0.134:0.4876:0.0|0.3784:0.134:0.4876:0.0	.|.	.|856;892;885	.|Q9P0K1-5;Q9P0K1;Q9P0K1-2	.|.;ADA22_HUMAN;.	X|N	250|856;892;885;885;316	.|ENSP00000381262:K856N;ENSP00000265727:K892N;ENSP00000315900:K885N;ENSP00000381267:K885N;ENSP00000396233:K316N	.|ENSP00000265727:K892N	E|K	+|+	1|3	0|2	ADAM22|ADAM22	87660466|87660466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.927000|1.927000	0.40094|0.40094	0.790000|0.790000	0.33803|0.33803	-0.143000|-0.143000	0.13931|0.13931	GAA|AAG		0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		11	43	1	0	6.40141e-05	1	7.11719e-05	11	43				
NDUFA9	4704	broad.mit.edu	37	12	4763994	4763994	+	Missense_Mutation	SNP	G	G	A	rs35263902	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4763994G>A	ENST00000266544.5	+	3	244	c.224G>A	c.(223-225)cGc>cAc	p.R75H	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						CTTTTAGGACGCATGGGGTCA	0.383													G|||	10	0.00199681	0.0061	0.0	5008	,	,		19270	0.0		0.0	False		,,,				2504	0.002				Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(223-225)cGc>cAc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)	G	HIS/ARG	31,4375	36.8+/-68.6	0,31,2172	96.0	86.0	90.0		224	4.7	1.0	12	dbSNP_126	90	0,8600		0,0,4300	yes	missense	NDUFA9	NM_005002.4	29	0,31,6472	AA,AG,GG		0.0,0.7036,0.2384	probably-damaging	75/378	4763994	31,12975	2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4763994G>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.224G>A	12.37:g.4763994G>A	ENSP00000266544:p.Arg75His					NDUFA9_ENST00000542369.1_3'UTR	p.R75H	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			3	244	+			75					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.224G>A	CCDS8532.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.6	4.167055	0.78339	0.007036	0.0	ENSG00000139180	ENST00000266544;ENST00000535050	D;D	0.93547	-3.24;-1.93	5.59	4.7	0.59300	NAD(P)-binding domain (1);NmrA-like (1);	0.047437	0.85682	D	0.000000	D	0.96281	0.8787	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	D	0.95629	0.8688	10	0.87932	D	0	-3.8519	13.5143	0.61530	0.0763:0.0:0.9237:0.0	rs35263902	75;75	A8K4V2;Q16795	.;NDUA9_HUMAN	H	75;97	ENSP00000266544:R75H;ENSP00000440305:R97H	ENSP00000266544:R75H	R	+	2	0	NDUFA9	4634255	1.000000	0.71417	0.982000	0.44146	0.538000	0.34931	7.324000	0.79115	1.479000	0.48272	0.655000	0.94253	CGC		0.383	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		23	40	0	0	0	1	0	23	40				
SSR3	6747	broad.mit.edu	37	3	156266708	156266708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156266708C>T	ENST00000265044.2	-	3	439	c.345G>A	c.(343-345)aaG>aaA	p.K115K	SSR3_ENST00000467789.1_Silent_p.K115K|SSR3_ENST00000496050.1_Silent_p.K63K|SSR3_ENST00000463503.1_Silent_p.K63K|SSR3_ENST00000476217.1_Silent_p.K115K|SSR3_ENST00000478842.1_5'UTR	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	115					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATCTTTCTCCTTCCGAGACA	0.363																																						ENST00000265044.2																			0				endometrium(1)|prostate(2)	3						c.(343-345)aaG>aaA		signal sequence receptor, gamma (translocon-associated protein gamma)							88.0	85.0	86.0					3																	156266708		2203	4300	6503	SO:0001819	synonymous_variant	6747				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	g.chr3:156266708C>T	BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.345G>A	3.37:g.156266708C>T						SSR3_ENST00000463503.1_Silent_p.K63K|SSR3_ENST00000496050.1_Silent_p.K63K|SSR3_ENST00000476217.1_Silent_p.K115K|SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000467789.1_Silent_p.K115K	p.K115K	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	439	-			115					B2R7D0|B4E2P2|D3DNK5|Q549M4	Silent	SNP	ENST00000265044.2	37	c.345G>A	CCDS3176.1																																																																																				0.363	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1	NM_007107		4	40	0	0	0	1	0	4	40				
RAB40AL	282808	broad.mit.edu	37	X	102192394	102192394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192394G>A	ENST00000218249.5	+	1	195	c.148G>A	c.(148-150)Gac>Aac	p.D50N	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	50					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GGGGGGAATCGACTACAAGAC	0.607																																						ENST00000218249.5																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						c.(148-150)Gac>Aac		RAB40A, member RAS oncogene family-like							137.0	123.0	128.0					X																	102192394		2203	4300	6503	SO:0001583	missense	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192394G>A	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.148G>A	X.37:g.102192394G>A	ENSP00000218249:p.Asp50Asn						p.D50N	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN			1	195	+			50					Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	c.148G>A	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	19.23	3.787766	0.70337	.	.	ENSG00000102128	ENST00000218249	D	0.83335	-1.71	0.779	0.779	0.18550	Small GTP-binding protein domain (1);	0.000000	0.48286	U	0.000187	D	0.89283	0.6671	M	0.79123	2.44	0.46631	D	0.999139	D	0.89917	1.0	D	0.97110	1.0	D	0.89460	0.3736	9	0.87932	D	0	.	.	.	.	.	50	P0C0E4	RB40L_HUMAN	N	50	ENSP00000218249:D50N	ENSP00000218249:D50N	D	+	1	0	RAB40AL	102079050	1.000000	0.71417	0.398000	0.26321	0.241000	0.25554	5.231000	0.65327	0.678000	0.31325	0.458000	0.33432	GAC		0.607	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		42	76	0	0	0	1	0	42	76				
EIF2AK1	27102	broad.mit.edu	37	7	6078266	6078266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6078266G>A	ENST00000199389.6	-	10	1302	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	EIF2AK1_ENST00000536084.1_Silent_p.L262L|EIF2AK1_ENST00000495565.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGCTCACACAGCTGCATCTGG	0.547																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(1156-1158)Ctg>Ttg		eukaryotic translation initiation factor 2-alpha kinase 1							120.0	108.0	112.0					7																	6078266		2203	4300	6503	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6078266G>A	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1156C>T	7.37:g.6078266G>A						EIF2AK1_ENST00000536084.1_Silent_p.L262L	p.L386L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	10	1302	-		Ovarian(82;0.0423)	386			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.1156C>T	CCDS5345.1																																																																																				0.547	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		31	78	0	0	0	1	0	31	78				
CCDC170	80129	broad.mit.edu	37	6	151939260	151939260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151939260G>A	ENST00000239374.7	+	11	2225	c.2126G>A	c.(2125-2127)gGc>gAc	p.G709D	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.G716D	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	709																	CACCCACAAGGCCATTTACAG	0.443																																						ENST00000367290.5																			0											c.(2146-2148)gGc>gAc		coiled-coil domain containing 170							92.0	89.0	90.0					6																	151939260		1972	4158	6130	SO:0001583	missense	80129							g.chr6:151939260G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.2126G>A	6.37:g.151939260G>A	ENSP00000239374:p.Gly709Asp					CCDC170_ENST00000239374.7_Missense_Mutation_p.G709D	p.G716D			Q8IYT3	CF097_HUMAN			11	2236	+			709					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.2147G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	6.129	0.392044	0.11581	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.07908	3.15;3.15	5.96	0.396	0.16309	.	1.160920	0.06102	N	0.665631	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47736	-0.9094	10	0.14656	T	0.56	-4.0E-4	1.937	0.03339	0.4323:0.1286:0.3097:0.1294	.	709	Q8IYT3	CF097_HUMAN	D	709;716	ENSP00000239374:G709D;ENSP00000356259:G716D	ENSP00000239374:G709D	G	+	2	0	C6orf97	151980953	0.000000	0.05858	0.004000	0.12327	0.754000	0.42855	0.687000	0.25407	-0.133000	0.11537	0.655000	0.94253	GGC		0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		25	36	0	0	0	1	0	25	36				
MCM8	84515	broad.mit.edu	37	20	5948475	5948475	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948475G>A	ENST00000378896.3	+	10	1404		c.e10-1		MCM8_ENST00000378883.1_Splice_Site|MCM8_ENST00000265187.4_Intron|MCM8_ENST00000378886.2_Splice_Site	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8						cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTAATTTACAGGTTCTCGAAA	0.303																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.e10-1		minichromosome maintenance complex component 8							42.0	45.0	44.0					20																	5948475		2203	4299	6502	SO:0001630	splice_region_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5948475G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1028-1G>A	20.37:g.5948475G>A						MCM8_ENST00000265187.4_Intron|MCM8_ENST00000378886.2_Splice_Site|MCM8_ENST00000378883.1_Splice_Site		NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			10	1404	+								B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Splice_Site	SNP	ENST00000378896.3	37		CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.178084	0.57692	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7324	0.96188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCM8	5896475	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.457000	0.73505	2.663000	0.90544	0.655000	0.94253	.		0.303	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485	Intron	8	29	0	0	0	1	0	8	29				
TRAPPC8	22878	broad.mit.edu	37	18	29429587	29429587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29429587G>A	ENST00000283351.4	-	25	4012	c.3677C>T	c.(3676-3678)gCt>gTt	p.A1226V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.A1172V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1226					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATCTCACAGCATCCTCTGT	0.363																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3676-3678)gCt>gTt		trafficking protein particle complex 8							137.0	120.0	126.0					18																	29429587		2202	4300	6502	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29429587G>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3677C>T	18.37:g.29429587G>A	ENSP00000283351:p.Ala1226Val					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.A1172V	p.A1226V	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			25	4012	-			1226					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3677C>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747637	0.49257	.	.	ENSG00000153339	ENST00000283351	T	0.17213	2.29	5.86	5.0	0.66597	.	0.354983	0.33610	N	0.004734	T	0.13543	0.0328	L	0.31294	0.92	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.07102	-1.0790	10	0.16896	T	0.51	.	15.0306	0.71705	0.068:0.0:0.932:0.0	.	1226	Q9Y2L5	TPPC8_HUMAN	V	1226	ENSP00000283351:A1226V	ENSP00000283351:A1226V	A	-	2	0	TRAPPC8	27683585	0.961000	0.32948	1.000000	0.80357	0.987000	0.75469	4.651000	0.61447	1.492000	0.48499	0.655000	0.94253	GCT		0.363	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		23	62	0	0	0	1	0	23	62				
GPR89A	653519	broad.mit.edu	37	1	145765405	145765405	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145765405G>T	ENST00000313835.9	-	13	1268	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	GPR89A_ENST00000454423.3_Silent_p.S255S|GPR89A_ENST00000534502.1_Silent_p.S350S|GPR89A_ENST00000462900.2_Silent_p.S350S			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	375					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGACATTGGAGGACTTACTGC	0.348																																						ENST00000313835.9																			0				breast(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(1123-1125)tcC>tcA		G protein-coupled receptor 89A							176.0	211.0	199.0					1																	145765405		2196	4296	6492	SO:0001819	synonymous_variant	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145765405G>T	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.1125C>A	1.37:g.145765405G>T						GPR89A_ENST00000534502.1_Silent_p.S350S|GPR89A_ENST00000462900.2_Silent_p.S350S|GPR89A_ENST00000454423.3_Silent_p.S255S	p.S375S			B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		13	1268	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		375					A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000313835.9	37	c.1125C>A	CCDS41377.1																																																																																				0.348	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612		75	233	1	0	3.27475e-32	1	4.39361e-32	75	233				
DDX4	54514	broad.mit.edu	37	5	55075867	55075867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55075867G>A	ENST00000505374.1	+	8	562	c.470G>A	c.(469-471)cGt>cAt	p.R157H	RNA5SP183_ENST00000362452.1_RNA|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.R137H|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000353507.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	157	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGAGGTTGCCGTGGAGGATTT	0.373																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(469-471)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							147.0	139.0	141.0					5																	55075867		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55075867G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.470G>A	5.37:g.55075867G>A	ENSP00000424838:p.Arg157His					DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.R137H	p.R157H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			8	562	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	157			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.470G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414034	0.62511	.	.	ENSG00000152670	ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000514679	T;T;T;T;T	0.57107	1.94;1.9;3.44;0.67;0.42	5.37	2.66	0.31614	.	0.068799	0.56097	N	0.000033	T	0.49677	0.1571	L	0.37850	1.14	0.39584	D	0.969486	D;B	0.69078	0.997;0.002	P;B	0.54499	0.754;0.001	T	0.45775	-0.9238	10	0.44086	T	0.13	-17.7369	7.362	0.26752	0.3367:0.0:0.6633:0.0	.	137;157	D6RDK4;Q9NQI0	.;DDX4_HUMAN	H	137;157;137;131;157	ENSP00000425359:R137H;ENSP00000424838:R157H;ENSP00000427167:R137H;ENSP00000424779:R131H;ENSP00000424112:R157H	ENSP00000424838:R157H	R	+	2	0	DDX4	55111624	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	0.629000	0.24538	0.408000	0.25621	-0.897000	0.02905	CGT		0.373	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		10	36	0	0	0	1	0	10	36				
RTL1	388015	broad.mit.edu	37	14	101350844	101350844	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101350844G>A	ENST00000534062.1	-	1	340	c.282C>T	c.(280-282)gaC>gaT	p.D94D	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	94					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTGGAGTAGGTCATTGGGTG	0.537																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(280-282)gaC>gaT		retrotransposon-like 1							83.0	73.0	76.0					14																	101350844		1568	3582	5150	SO:0001819	synonymous_variant	388015							g.chr14:101350844G>A		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.282C>T	14.37:g.101350844G>A						MIR432_ENST00000606207.1_RNA	p.D94D	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	340	-			94					E9PKS8	Silent	SNP	ENST00000534062.1	37	c.282C>T	CCDS53910.1																																																																																				0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		14	33	0	0	0	1	0	14	33				
RABEP2	79874	broad.mit.edu	37	16	28925758	28925758	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925758G>A	ENST00000358201.4	-	5	1281	c.693C>T	c.(691-693)agC>agT	p.S231S	RABEP2_ENST00000357573.6_Silent_p.S231S|RABEP2_ENST00000561803.1_5'Flank|RABEP2_ENST00000544477.1_Silent_p.S160S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	231					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGATGGAGGCGCTGTCATCGC	0.682																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(691-693)agC>agT		rabaptin, RAB GTPase binding effector protein 2							23.0	29.0	27.0					16																	28925758		2043	4207	6250	SO:0001819	synonymous_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925758G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.693C>T	16.37:g.28925758G>A						RABEP2_ENST00000544477.1_Silent_p.S160S|RABEP2_ENST00000357573.6_Silent_p.S231S	p.S231S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			5	1281	-			231						Silent	SNP	ENST00000358201.4	37	c.693C>T	CCDS42140.1																																																																																				0.682	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		15	21	0	0	0	1	0	15	21				
LGI2	55203	broad.mit.edu	37	4	25013964	25013964	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25013964G>A	ENST00000382114.4	-	7	998	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	271						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CACCTGTAATGTTGTCATAGC	0.512																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(811-813)aaC>aaT		leucine-rich repeat LGI family, member 2							160.0	132.0	141.0					4																	25013964		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25013964G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.813C>T	4.37:g.25013964G>A							p.N271N	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			7	998	-		Breast(46;0.173)	271					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.813C>T	CCDS3431.1																																																																																				0.512	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			28	60	0	0	0	1	0	28	60				
PCED1B	91523	broad.mit.edu	37	12	47472371	47472371	+	5'Flank	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472371C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Missense_Mutation_p.E139K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E139K|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E139K|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E139K			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										ACCTTCAACTCTTGGAATACA	0.438																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(415-417)Gag>Aag		adhesion molecule with Ig-like domain 2							126.0	126.0	126.0					12																	47472371		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472371C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472371C>T	Exception_encountered					AMIGO2_ENST00000429635.1_Missense_Mutation_p.E139K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E139K|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E139K	p.E139K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	881	-	Renal(347;0.138)|Lung SC(27;0.192)		139					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.415G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856264	0.71834	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.83	4.83	0.62350	.	0.130133	0.51477	D	0.000100	T	0.47875	0.1469	N	0.05351	-0.065	0.52099	D	0.999949	D	0.61697	0.99	P	0.60173	0.87	T	0.40384	-0.9566	10	0.12430	T	0.62	-20.1198	17.7901	0.88550	0.0:1.0:0.0:0.0	.	139	Q86SJ2	AMGO2_HUMAN	K	139	ENSP00000266581:E139K;ENSP00000449034:E139K;ENSP00000406020:E139K;ENSP00000320848:E139K	ENSP00000266581:E139K	E	-	1	0	AMIGO2	45758638	1.000000	0.71417	0.961000	0.40146	0.963000	0.63663	5.101000	0.64566	2.611000	0.88343	0.655000	0.94253	GAG		0.438	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		41	68	0	0	0	1	0	41	68				
C7orf49	78996	broad.mit.edu	37	7	134851540	134851540	+	Silent	SNP	C	C	T	rs146289482	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134851540C>T	ENST00000393114.3	-	4	478	c.297G>A	c.(295-297)tcG>tcA	p.S99S	C7orf49_ENST00000424142.1_Silent_p.S44S|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.S98S|C7orf49_ENST00000483029.2_Silent_p.S44S|RP11-134L10.1_ENST00000608819.1_RNA			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	99						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTGTGTGAGGCGACACGGAGC	0.642																																						ENST00000424142.1																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(130-132)tcG>tcA		chromosome 7 open reading frame 49							64.0	70.0	68.0					7																	134851540		2203	4300	6503	SO:0001819	synonymous_variant	78996					cytoplasm		g.chr7:134851540C>T	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.297G>A	7.37:g.134851540C>T						C7orf49_ENST00000483029.2_Silent_p.S44S|C7orf49_ENST00000393114.3_Silent_p.S99S|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.S98S	p.S44S	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN			4	734	-			99					Q6NWZ4|Q6ZNR5	Silent	SNP	ENST00000393114.3	37	c.132G>A	CCDS5838.2																																																																																				0.642	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		59	45	0	0	0	1	0	59	45				
TCP11L1	55346	broad.mit.edu	37	11	33080616	33080616	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33080616T>G	ENST00000334274.4	+	6	1150	c.750T>G	c.(748-750)ttT>ttG	p.F250L	TCP11L1_ENST00000324357.9_Missense_Mutation_p.F29L|TCP11L1_ENST00000432887.1_Missense_Mutation_p.F250L|TCP11L1_ENST00000531632.2_Missense_Mutation_p.F250L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	250						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						GGAAGAAGTTTCAAGAGATTT	0.398																																						ENST00000334274.4																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(748-750)ttT>ttG		t-complex 11, testis-specific-like 1							154.0	159.0	157.0					11																	33080616		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33080616T>G	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.750T>G	11.37:g.33080616T>G	ENSP00000335595:p.Phe250Leu					TCP11L1_ENST00000432887.1_Missense_Mutation_p.F250L|TCP11L1_ENST00000531632.2_Missense_Mutation_p.F250L|TCP11L1_ENST00000324357.9_Missense_Mutation_p.F29L	p.F250L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN			6	1150	+			250					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.750T>G	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.720155	0.68844	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.1	0.123	0.14709	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.86740	2.835	0.58432	D	0.999999	P	0.46784	0.884	P	0.45138	0.471	T	0.51395	-0.8711	10	0.72032	D	0.01	-17.4836	9.2465	0.37529	0.0:0.3673:0.0:0.6327	.	250	Q9NUJ3	T11L1_HUMAN	L	250;250;250;29	ENSP00000335595:F250L;ENSP00000433067:F250L;ENSP00000395070:F250L;ENSP00000316279:F29L	ENSP00000316279:F29L	F	+	3	2	TCP11L1	33037192	1.000000	0.71417	0.972000	0.41901	0.820000	0.46376	0.853000	0.27777	0.016000	0.14998	-0.415000	0.06103	TTT		0.398	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		10	157	0	0	0	1	0	10	157				
NISCH	11188	broad.mit.edu	37	3	52492834	52492834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52492834G>A	ENST00000479054.1	+	4	406	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	NISCH_ENST00000488380.1_Missense_Mutation_p.A112T|NISCH_ENST00000345716.4_Missense_Mutation_p.A112T|NISCH_ENST00000420808.2_Missense_Mutation_p.A112T			Q9Y2I1	NISCH_HUMAN	nischarin	112	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CAGAGTACTGGCCCACTTCTT	0.527																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(334-336)Gcc>Acc		nischarin							115.0	112.0	113.0					3																	52492834		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52492834G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.334G>A	3.37:g.52492834G>A	ENSP00000418232:p.Ala112Thr					NISCH_ENST00000488380.1_Missense_Mutation_p.A112T|NISCH_ENST00000479054.1_Missense_Mutation_p.A112T|NISCH_ENST00000420808.2_Missense_Mutation_p.A112T	p.A112T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	3	468	+			112			Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.334G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428318	0.62844	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.55	4.59	0.56863	Phox homologous domain (5);	0.126749	0.56097	D	0.000040	T	0.30792	0.0776	L	0.37800	1.135	0.58432	D	0.999999	P;B	0.44690	0.841;0.24	B;B	0.41135	0.348;0.184	T	0.10847	-1.0612	10	0.62326	D	0.03	-25.0106	13.0921	0.59171	0.0:0.0:0.7572:0.2428	.	112;112	Q9Y2I1;C9J715	NISCH_HUMAN;.	T	112	ENSP00000418232:A112T;ENSP00000339958:A112T;ENSP00000417812:A112T;ENSP00000392484:A112T	ENSP00000339958:A112T	A	+	1	0	NISCH	52467874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.071000	0.57556	2.636000	0.89361	0.655000	0.94253	GCC		0.527	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		33	45	0	0	0	1	0	33	45				
SYNM	23336	broad.mit.edu	37	15	99670344	99670344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99670344G>A	ENST00000560674.1	+	4	1390	c.921G>A	c.(919-921)ccG>ccA	p.P307P	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.P592P|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Silent_p.P592P			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	593	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGGTGTCCCCGAAAGGTTTGC	0.562																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1774-1776)ccG>ccA		synemin, intermediate filament protein							70.0	71.0	71.0					15																	99670344		2000	4175	6175	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670344G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.921G>A	15.37:g.99670344G>A						SYNM_ENST00000560674.1_Silent_p.P307P|SYNM_ENST00000328642.7_Silent_p.P592P|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	p.P592P	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1896	+			593			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.1776G>A																																																																																					0.562	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		19	17	0	0	0	1	0	19	17				
CYP4B1	1580	broad.mit.edu	37	1	47279658	47279658	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47279658A>G	ENST00000271153.4	+	6	731	c.695A>G	c.(694-696)cAt>cGt	p.H232R	CYP4B1_ENST00000371923.4_Missense_Mutation_p.H233R|CYP4B1_ENST00000452782.2_Missense_Mutation_p.H70R|CYP4B1_ENST00000371919.4_Missense_Mutation_p.H218R			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	232					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTCCAGTACCATAATGACTTC	0.587																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(694-696)cAt>cGt		cytochrome P450, family 4, subfamily B, polypeptide 1							179.0	159.0	166.0					1																	47279658		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279658A>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.695A>G	1.37:g.47279658A>G	ENSP00000271153:p.His232Arg					CYP4B1_ENST00000452782.2_Missense_Mutation_p.H70R|CYP4B1_ENST00000371919.4_Missense_Mutation_p.H218R|CYP4B1_ENST00000371923.4_Missense_Mutation_p.H233R	p.H232R			P13584	CP4B1_HUMAN			6	731	+	Acute lymphoblastic leukemia(166;0.155)		232					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.695A>G	CCDS542.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547810	0.45383	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;1.01;-0.29;-0.29	5.26	5.26	0.73747	.	0.096695	0.64402	D	0.000001	T	0.63082	0.2481	L	0.27053	0.805	0.52501	D	0.999951	P;B;P;B	0.36010	0.532;0.332;0.503;0.06	P;B;B;B	0.46940	0.532;0.211;0.384;0.169	T	0.65932	-0.6048	10	0.54805	T	0.06	.	11.515	0.50515	0.8659:0.0:0.0:0.1341	.	70;218;233;232	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	R	233;232;218;70;70;69	ENSP00000360991:H233R;ENSP00000271153:H232R;ENSP00000360987:H218R;ENSP00000438995:H70R;ENSP00000400413:H70R;ENSP00000437670:H69R	ENSP00000271153:H232R	H	+	2	0	CYP4B1	47052245	1.000000	0.71417	0.999000	0.59377	0.481000	0.33189	5.865000	0.69583	1.990000	0.58119	0.402000	0.26972	CAT		0.587	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		15	125	0	0	0	1	0	15	125				
SYNE1	23345	broad.mit.edu	37	6	152702469	152702469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152702469G>A	ENST00000367255.5	-	56	9282	c.8681C>T	c.(8680-8682)gCa>gTa	p.A2894V	SYNE1_ENST00000265368.4_Missense_Mutation_p.A2894V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2933V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2901V|SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2901V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2894					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGACGGCTTGCACCAATCTC	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8680-8682)gCa>gTa		spectrin repeat containing, nuclear envelope 1							122.0	123.0	122.0					6																	152702469		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152702469G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8681C>T	6.37:g.152702469G>A	ENSP00000356224:p.Ala2894Val	HNSCC(10;0.0054)				SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2933V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2894V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2901V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2901V	p.A2894V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	56	9282	-		Ovarian(120;0.0955)	2894					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8681C>T	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.69|17.69	3.452932|3.452932	0.63290|0.63290	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.54866|.	0.64;0.65;0.55;0.65;0.75|.	6.01|6.01	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.64402|.	D|.	0.000008|.	T|.	0.53206|.	0.1782|.	M|M	0.63428|0.63428	1.95|1.95	0.49915|0.49915	D|D	0.999837|0.999837	B;P;P;P|.	0.51791|.	0.004;0.913;0.913;0.948|.	B;B;B;P|.	0.50708|.	0.003;0.445;0.445;0.648|.	T|.	0.56202|.	-0.8018|.	10|.	0.39692|.	T|.	0.17|.	.|.	11.0912|11.0912	0.48117|0.48117	0.0662:0.0:0.8057:0.1281|0.0662:0.0:0.8057:0.1281	.|.	2877;2894;2894;2901|.	B3W695;Q8NF91;E7EQI5;Q8NF91-4|.	.;SYNE1_HUMAN;.;.|.	V|X	2894;2901;2894;2901;2933|11	ENSP00000356224:A2894V;ENSP00000396024:A2901V;ENSP00000265368:A2894V;ENSP00000390975:A2901V;ENSP00000341887:A2933V|.	ENSP00000265368:A2894V|.	A|Q	-|-	2|1	0|0	SYNE1|SYNE1	152744162|152744162	0.476000|0.476000	0.25901|0.25901	0.048000|0.048000	0.18961|0.18961	0.586000|0.586000	0.36452|0.36452	1.984000|1.984000	0.40658|0.40658	1.562000|1.562000	0.49601|0.49601	0.650000|0.650000	0.86243|0.86243	GCA|CAA		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	158	0	0	0	1	0	13	158				
LRRK2	120892	broad.mit.edu	37	12	40671969	40671969	+	Missense_Mutation	SNP	C	C	T	rs281865043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40671969C>T	ENST00000298910.7	+	18	2205	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	LRRK2_ENST00000343742.2_Missense_Mutation_p.A716V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	716			A -> V. {ECO:0000269|PubMed:18213618}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.A716E(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTAGAGAGAGCGTGTGATCAG	0.368																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.A716E(2)	stomach(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2146-2148)gCg>gTg		leucine-rich repeat kinase 2							155.0	152.0	153.0					12																	40671969		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40671969C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2147C>T	12.37:g.40671969C>T	ENSP00000298910:p.Ala716Val					LRRK2_ENST00000343742.2_Missense_Mutation_p.A716V	p.A716V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			18	2205	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	716		A -> V.			A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2147C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312169	0.81358	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.73897	-0.79;1.39;1.39	5.94	5.02	0.67125	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	L	0.36672	1.1	0.48135	D	0.999599	D;D	0.89917	1.0;1.0	D;D	0.87578	0.962;0.998	T	0.82472	-0.0440	10	0.87932	D	0	.	16.5895	0.84761	0.1307:0.8693:0.0:0.0	.	716;716	E9PC85;Q5S007	.;LRRK2_HUMAN	V	464;716;716	ENSP00000398726:A464V;ENSP00000341930:A716V;ENSP00000298910:A716V	ENSP00000298910:A716V	A	+	2	0	LRRK2	38958236	0.998000	0.40836	0.547000	0.28179	0.806000	0.45545	4.286000	0.58995	2.807000	0.96579	0.591000	0.81541	GCG		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		14	114	0	0	0	1	0	14	114				
USP44	84101	broad.mit.edu	37	12	95927508	95927508	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95927508C>T	ENST00000258499.3	-	2	813	c.525G>A	c.(523-525)aaG>aaA	p.K175K	USP44_ENST00000393091.2_Silent_p.K175K|USP44_ENST00000552440.1_Silent_p.K175K|USP44_ENST00000537435.2_Silent_p.K175K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	175					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTTCTTCTTGCTTTTTTCTTC	0.363																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(523-525)aaG>aaA		ubiquitin specific peptidase 44							91.0	92.0	91.0					12																	95927508		2203	4300	6503	SO:0001819	synonymous_variant	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927508C>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.525G>A	12.37:g.95927508C>T						USP44_ENST00000552440.1_Silent_p.K175K|USP44_ENST00000537435.2_Silent_p.K175K|USP44_ENST00000393091.2_Silent_p.K175K	p.K175K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			2	813	-			175					B2RDW3	Silent	SNP	ENST00000258499.3	37	c.525G>A	CCDS9053.1																																																																																				0.363	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		21	50	0	0	0	1	0	21	50				
FLII	2314	broad.mit.edu	37	17	18156617	18156617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18156617G>A	ENST00000327031.4	-	9	1236	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FLII_ENST00000579294.1_Silent_p.C326C|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000545457.2_Silent_p.C283C|FLII_ENST00000379450.4_Silent_p.C252C|FLII_ENST00000578558.1_Silent_p.C337C	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	337	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCAGCACCTGCAGAGACTTT	0.582																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1009-1011)tgC>tgT		flightless I homolog (Drosophila)							44.0	43.0	44.0					17																	18156617		2203	4300	6503	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18156617G>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1011C>T	17.37:g.18156617G>A						FLII_ENST00000379450.4_Silent_p.C252C|FLII_ENST00000545457.2_Silent_p.C283C|FLII_ENST00000578558.1_Silent_p.C337C|FLII_ENST00000579294.1_Silent_p.C326C	p.C337C	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			9	1236	-	all_neural(463;0.228)		337			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.1011C>T	CCDS11192.1																																																																																				0.582	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	17	0	0	0	1	0	7	17				
SLC9A6	10479	broad.mit.edu	37	X	135067917	135067917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135067917C>A	ENST00000370698.3	+	1	291	c.256C>A	c.(256-258)Ctc>Atc	p.L86I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.L86I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.L34I	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	86					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTCACCATTCTCACAATCTG	0.592																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(256-258)Ctc>Atc		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							136.0	126.0	129.0					X																	135067917		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135067917C>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.256C>A	X.37:g.135067917C>A	ENSP00000359732:p.Leu86Ile					SLC9A6_ENST00000370701.1_Missense_Mutation_p.L34I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L86I	p.L86I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			1	291	+	Acute lymphoblastic leukemia(192;0.000127)		86					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.256C>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.007017	0.74932	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.18016	2.24;2.24;2.24	4.82	3.95	0.45737	Cation/H+ exchanger (1);	0.373629	0.30658	N	0.009146	T	0.31263	0.0791	L	0.60012	1.86	0.51767	D	0.999933	P;D;D	0.60160	0.95;0.987;0.972	P;P;P	0.60415	0.874;0.873;0.836	T	0.03148	-1.1067	10	0.62326	D	0.03	.	10.757	0.46243	0.0:0.9046:0.0:0.0954	.	34;86;86	B4DU30;Q92581-2;Q92581	.;.;SL9A6_HUMAN	I	34;86;86	ENSP00000359735:L34I;ENSP00000359732:L86I;ENSP00000359729:L86I	ENSP00000359729:L86I	L	+	1	0	SLC9A6	134895583	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	3.418000	0.52721	1.965000	0.57142	0.373000	0.22412	CTC		0.592	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		12	162	1	0	3.27435e-08	1	3.90559e-08	12	162				
PKN2	5586	broad.mit.edu	37	1	89251812	89251812	+	Silent	SNP	C	C	T	rs535484606		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89251812C>T	ENST00000370521.3	+	8	1556	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L	PKN2_ENST00000544045.1_Silent_p.L73L|PKN2_ENST00000370513.5_Silent_p.L399L|PKN2_ENST00000370505.3_Silent_p.L242L|PKN2_ENST00000316005.7_Silent_p.L399L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	399	C2.|Necessary to rescue apical junction formation. {ECO:0000250}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTGAAGCTCGATAATACTG	0.368																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1195-1197)ctC>ctT		protein kinase N2							98.0	92.0	94.0					1																	89251812		1838	4092	5930	SO:0001819	synonymous_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89251812C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1197C>T	1.37:g.89251812C>T						PKN2_ENST00000316005.7_Silent_p.L399L|PKN2_ENST00000370513.5_Silent_p.L399L|PKN2_ENST00000544045.1_Silent_p.L73L|PKN2_ENST00000370505.3_Silent_p.L242L	p.L399L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	8	1556	+		Lung NSC(277;0.123)	399			C2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Silent	SNP	ENST00000370521.3	37	c.1197C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	7.668	0.686413	0.14973	.	.	ENSG00000065243	ENST00000436111	.	.	.	5.48	-1.42	0.08913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8653	0.01202	0.1583:0.2952:0.2537:0.2928	.	.	.	.	X	119	.	.	R	+	1	2	PKN2	89024400	1.000000	0.71417	0.990000	0.47175	0.918000	0.54935	2.582000	0.46085	-0.465000	0.06953	-2.811000	0.00111	CGA		0.368	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		8	44	0	0	0	1	0	8	44				
EFNA4	1945	broad.mit.edu	37	1	155039407	155039407	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155039407T>C	ENST00000368409.3	+	2	408	c.315T>C	c.(313-315)caT>caC	p.H105H	EFNA4_ENST00000427683.2_Silent_p.H105H|EFNA4_ENST00000359751.4_Silent_p.H105H|EFNA3_ENST00000505139.1_Intron|EFNA3_ENST00000556931.1_Intron	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	105	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTTTGGCCATGTTCAATTCT	0.562																																						ENST00000368409.3																			0				breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(313-315)caT>caC		ephrin-A4							78.0	77.0	77.0					1																	155039407		2203	4300	6503	SO:0001819	synonymous_variant	1945							g.chr1:155039407T>C	AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"""Ephrins"""	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.315T>C	1.37:g.155039407T>C						EFNA4_ENST00000427683.2_Silent_p.H105H|EFNA4_ENST00000359751.4_Silent_p.H105H|EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron	p.H105H	NM_005227.2	NP_005218.1			BRCA - Breast invasive adenocarcinoma(34;0.000434)		2	408	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Silent	SNP	ENST00000368409.3	37	c.315T>C	CCDS1089.1																																																																																				0.562	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2	NM_005227		6	50	0	0	0	1	0	6	50				
BACE2	25825	broad.mit.edu	37	21	42609525	42609525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42609525G>A	ENST00000330333.6	+	3	950	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.V163I|BACE2_ENST00000347667.5_Missense_Mutation_p.V163I	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	163					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGAAGACCTCGTCACCATCCC	0.448																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(487-489)Gtc>Atc		beta-site APP-cleaving enzyme 2							102.0	82.0	89.0					21																	42609525		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42609525G>A	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.487G>A	21.37:g.42609525G>A	ENSP00000332979:p.Val163Ile					BACE2_ENST00000328735.6_Missense_Mutation_p.V163I|BACE2_ENST00000347667.4_Missense_Mutation_p.V163I|BACE2_ENST00000466122.1_3'UTR	p.V163I	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			3	950	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	163					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.487G>A	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565149	0.45694	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.51325	0.71;0.71;0.71	5.85	4.96	0.65561	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.179966	0.49305	D	0.000143	T	0.30603	0.0770	L	0.38649	1.16	0.52501	D	0.99995	P;P;B	0.42123	0.465;0.771;0.185	B;B;B	0.29862	0.051;0.108;0.041	T	0.15636	-1.0430	10	0.52906	T	0.07	.	8.8252	0.35050	0.2109:0.0:0.7891:0.0	.	163;163;163	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	I	163;163;163;68	ENSP00000332979:V163I;ENSP00000327528:V163I;ENSP00000333854:V163I	ENSP00000333854:V163I	V	+	1	0	BACE2	41531395	0.987000	0.35691	0.959000	0.39883	0.879000	0.50718	2.213000	0.42844	2.773000	0.95371	0.585000	0.79938	GTC		0.448	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			14	33	0	0	0	1	0	14	33				
L1CAM	3897	broad.mit.edu	37	X	153132843	153132843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153132843G>A	ENST00000370060.1	-	17	2294	c.2105C>T	c.(2104-2106)cCg>cTg	p.P702L	L1CAM_ENST00000361699.4_Missense_Mutation_p.P702L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P704L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P704L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P697L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P702L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P697L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	702	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGACCGGGCTGGGCTC	0.607													g|||	1	0.000264901	0.0	0.0	3775	,	,		12216	0.0		0.0	False		,,,				2504	0.001					ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2104-2106)cCg>cTg		L1 cell adhesion molecule							75.0	81.0	79.0					X																	153132843		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132843G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2105C>T	X.37:g.153132843G>A	ENSP00000359077:p.Pro702Leu					L1CAM_ENST00000361981.3_Missense_Mutation_p.P697L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P702L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P697L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P702L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P704L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P704L	p.P702L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			17	2294	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		702			Fibronectin type-III 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2105C>T	CCDS14733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.777|7.777	0.708707|0.708707	0.15239|0.15239	.|.	.|.	ENSG00000198910|ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699|ENST00000455590	T;T;T;T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59;0.59;0.59;0.59|.	5.42|5.42	2.52|2.52	0.30459|0.30459	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.439888|.	0.21542|.	N|.	0.072869|.	T|T	0.31606|0.31606	0.0802|0.0802	N|N	0.21324|0.21324	0.655|0.655	0.36467|0.36467	D|D	0.86702|0.86702	B;B;B|.	0.18166|.	0.0;0.026;0.0|.	B;B;B|.	0.12156|.	0.007;0.007;0.003|.	T|T	0.18366|0.18366	-1.0339|-1.0339	10|5	0.25751|.	T|.	0.34|.	.|.	3.9426|3.9426	0.09334|0.09334	0.203:0.0:0.6099:0.1871|0.203:0.0:0.6099:0.1871	.|.	697;702;702|.	G3XAF4;P32004-2;P32004|.	.;.;L1CAM_HUMAN|.	L|W	702;704;702;704;697;697;702|123	ENSP00000359077:P702L;ENSP00000438430:P704L;ENSP00000359074:P702L;ENSP00000439645:P704L;ENSP00000354712:P697L;ENSP00000359072:P697L;ENSP00000355380:P702L|.	ENSP00000355380:P702L|.	P|R	-|-	2|1	0|2	L1CAM|L1CAM	152786037|152786037	0.082000|0.082000	0.21442|0.21442	0.566000|0.566000	0.28421|0.28421	0.501000|0.501000	0.33797|0.33797	0.464000|0.464000	0.21988|0.21988	0.488000|0.488000	0.27723|0.27723	-0.344000|-0.344000	0.07964|0.07964	CCG|CGG		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		44	96	0	0	0	1	0	44	96				
IL33	90865	broad.mit.edu	37	9	6250588	6250588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6250588C>T	ENST00000381434.3	+	2	219	c.206C>T	c.(205-207)tCa>tTa	p.S69L	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.S69L	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	69	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AAAAGGCCTTCACTGAAAACA	0.413																																						ENST00000381434.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(205-207)tCa>tTa		interleukin 33							85.0	82.0	83.0					9																	6250588		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6250588C>T	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.206C>T	9.37:g.6250588C>T	ENSP00000370842:p.Ser69Leu					IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.S69L	p.S69L	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	2	219	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	69					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.206C>T	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050497	0.55218	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.58358	0.34;0.34	4.43	3.53	0.40419	.	1.304800	0.05254	N	0.514575	T	0.62258	0.2413	L	0.61218	1.895	0.09310	N	1	D;D	0.53462	0.96;0.96	P;P	0.52217	0.693;0.693	T	0.46898	-0.9158	10	0.54805	T	0.06	-0.0652	8.5222	0.33282	0.0:0.8961:0.0:0.1039	.	69;69	B4E1Q9;O95760	.;IL33_HUMAN	L	69	ENSP00000414238:S69L;ENSP00000370842:S69L	ENSP00000370842:S69L	S	+	2	0	IL33	6240588	0.016000	0.18221	0.055000	0.19348	0.183000	0.23260	0.901000	0.28445	1.475000	0.48197	0.591000	0.81541	TCA		0.413	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		24	32	0	0	0	1	0	24	32				
ANK2	287	broad.mit.edu	37	4	114274547	114274547	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114274547A>G	ENST00000357077.4	+	38	4826	c.4773A>G	c.(4771-4773)gaA>gaG	p.E1591E	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.E1558E|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1591					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGAAGAGGAATGGGTTATTG	0.403																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4771-4773)gaA>gaG		ankyrin 2, neuronal							92.0	99.0	97.0					4																	114274547		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274547A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4773A>G	4.37:g.114274547A>G						ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.E1558E|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	p.E1591E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4826	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1558					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4773A>G	CCDS3702.1																																																																																				0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		19	35	0	0	0	1	0	19	35				
TM7SF2	7108	broad.mit.edu	37	11	64880801	64880801	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64880801C>A	ENST00000279263.7	+	4	576	c.414C>A	c.(412-414)acC>acA	p.T138T	TM7SF2_ENST00000540748.1_Silent_p.T22T|TM7SF2_ENST00000345348.5_Silent_p.T138T|TM7SF2_ENST00000531029.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	138					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTCGCCACCCTCACCGCTT	0.647											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279263.7																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(412-414)acC>acA		transmembrane 7 superfamily member 2							54.0	64.0	60.0					11																	64880801		2088	4211	6299	SO:0001819	synonymous_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64880801C>A	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.414C>A	11.37:g.64880801C>A			OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	TM7SF2_ENST00000540748.1_Silent_p.T22T|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Silent_p.T138T	p.T138T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			4	576	+			138					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	c.414C>A	CCDS41669.1																																																																																				0.647	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		8	73	1	0	0.000157383	1	0.00017284	8	73				
MAP7D3	79649	broad.mit.edu	37	X	135326876	135326876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135326876C>A	ENST00000316077.9	-	4	552	c.332G>T	c.(331-333)aGa>aTa	p.R111I	MAP7D3_ENST00000370661.1_Missense_Mutation_p.R111I|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R93I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	111					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTTCAGCTTTCTCTGTCTTTC	0.358																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(331-333)aGa>aTa		MAP7 domain containing 3							239.0	208.0	218.0					X																	135326876		1865	4086	5951	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135326876C>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.332G>T	X.37:g.135326876C>A	ENSP00000318086:p.Arg111Ile					MAP7D3_ENST00000370663.5_Missense_Mutation_p.R93I|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R111I	p.R111I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			4	552	-	Acute lymphoblastic leukemia(192;0.000127)		111					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.332G>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848837	0.51164	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	5.23	1.43	0.22495	.	.	.	.	.	T	0.14570	0.0352	L	0.61036	1.89	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.12041	-1.0563	9	0.87932	D	0	-10.0311	5.336	0.15957	0.0:0.4711:0.1345:0.3944	.	93;111;111;111	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	I	111;111;93;111	ENSP00000359695:R111I;ENSP00000318086:R111I;ENSP00000359697:R93I;ENSP00000359694:R111I	ENSP00000318086:R111I	R	-	2	0	MAP7D3	135154542	0.241000	0.23857	0.000000	0.03702	0.008000	0.06430	1.567000	0.36407	-0.066000	0.12998	0.506000	0.49869	AGA		0.358	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			35	71	1	0	2.80507e-11	1	3.49135e-11	35	71				
TPR	7175	broad.mit.edu	37	1	186292915	186292915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186292915G>A	ENST00000367478.4	-	43	6496	c.6200C>T	c.(6199-6201)gCc>gTc	p.A2067V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2067					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGCTCGAGGGGCCTGTCTTTC	0.517			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6199-6201)gCc>gTc		translocated promoter region, nuclear basket protein							137.0	146.0	143.0					1																	186292915		1957	4163	6120	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186292915G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6200C>T	1.37:g.186292915G>A	ENSP00000356448:p.Ala2067Val						p.A2067V	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	43	6496	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2067					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6200C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890449	0.52014	.	.	ENSG00000047410	ENST00000367478	T	0.23552	1.9	5.36	4.39	0.52855	.	0.376195	0.29508	N	0.011958	T	0.23330	0.0564	L	0.50333	1.59	0.28009	N	0.934996	B	0.02656	0.0	B	0.01281	0.0	T	0.05954	-1.0854	10	0.42905	T	0.14	.	10.8539	0.46786	0.0746:0.2864:0.6391:0.0	.	2067	P12270	TPR_HUMAN	V	2067	ENSP00000356448:A2067V	ENSP00000356448:A2067V	A	-	2	0	TPR	184559538	0.821000	0.29204	0.989000	0.46669	0.993000	0.82548	1.253000	0.32886	2.673000	0.90976	0.650000	0.86243	GCC		0.517	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		46	88	0	0	0	1	0	46	88				
RIOK1	83732	broad.mit.edu	37	6	7401281	7401281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7401281G>T	ENST00000379834.2	+	6	1078	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	191	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CACAGGAAAAGAAGTGAGCTC	0.338																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(571-573)Gaa>Taa		RIO kinase 1							78.0	77.0	77.0					6																	7401281		2203	4300	6503	SO:0001587	stop_gained	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7401281G>T	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.571G>T	6.37:g.7401281G>T	ENSP00000369162:p.Glu191*						p.E191*	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			6	1078	+	Ovarian(93;0.0418)		191			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Nonsense_Mutation	SNP	ENST00000379834.2	37	c.571G>T	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	42	9.179360	0.99091	.	.	ENSG00000124784	ENST00000379834	.	.	.	5.31	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.5465	13.0969	0.59197	0.0774:0.0:0.9226:0.0	.	.	.	.	X	191	.	ENSP00000369162:E191X	E	+	1	0	RIOK1	7346280	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.320000	0.96346	1.371000	0.46172	0.655000	0.94253	GAA		0.338	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		13	30	1	0	1.52009e-12	1	1.91418e-12	13	30				
ANKRD13C	81573	broad.mit.edu	37	1	70736577	70736577	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70736577A>G	ENST00000370944.4	-	12	1770	c.1457T>C	c.(1456-1458)gTt>gCt	p.V486A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V451A|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	486					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTCATCTGAACAAATTCTCT	0.308																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1456-1458)gTt>gCt		ankyrin repeat domain 13C							64.0	67.0	66.0					1																	70736577		2200	4299	6499	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70736577A>G		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1457T>C	1.37:g.70736577A>G	ENSP00000359982:p.Val486Ala					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V451A|ANKRD13C_ENST00000464236.1_5'UTR	p.V486A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			12	1770	-			486					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1457T>C	CCDS648.2	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932072	0.92389	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.53206	0.63;0.63	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.82056	2.57	0.80722	D	1	D;D	0.60160	0.984;0.987	P;D	0.69307	0.888;0.963	T	0.70421	-0.4876	10	0.87932	D	0	0.5016	16.2035	0.82105	1.0:0.0:0.0:0.0	.	451;486	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	A	486;451	ENSP00000359982:V486A;ENSP00000262346:V451A	ENSP00000262346:V451A	V	-	2	0	ANKRD13C	70509165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.114000	0.94329	2.305000	0.77605	0.529000	0.55759	GTT		0.308	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		15	20	0	0	0	1	0	15	20				
CRTAM	56253	broad.mit.edu	37	11	122722468	122722468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122722468C>T	ENST00000227348.4	+	3	308	c.261C>T	c.(259-261)aaC>aaT	p.N87N		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTGCCTAACGTAACCCTGC	0.448																																						ENST00000227348.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19						c.(259-261)aaC>aaT		cytotoxic and regulatory T cell molecule							177.0	151.0	160.0					11																	122722468		2202	4299	6501	SO:0001819	synonymous_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122722468C>T	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.261C>T	11.37:g.122722468C>T							p.N87N	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	308	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	87			Ig-like V-type.			Silent	SNP	ENST00000227348.4	37	c.261C>T	CCDS8437.1																																																																																				0.448	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		47	68	0	0	0	1	0	47	68				
CCBL1	883	broad.mit.edu	37	9	131597777	131597777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131597777G>A	ENST00000302586.3	-	10	1187	c.1025C>T	c.(1024-1026)aCa>aTa	p.T342I	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.T436I|CCBL1_ENST00000320665.6_Missense_Mutation_p.T292I	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	342					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TGAGATGTCTGTGATGAGGAA	0.617																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1306-1308)aCa>aTa		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						86.0	86.0	86.0					9																	131597777		2111	4241	6352	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597777G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.1025C>T	9.37:g.131597777G>A	ENSP00000302227:p.Thr342Ile					CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.T342I|CCBL1_ENST00000320665.6_Missense_Mutation_p.T292I	p.T436I			Q16773	KAT1_HUMAN			12	1456	-			342					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.1307C>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033546	0.35893	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.91011	-2.77;-2.77;-2.77	5.36	4.47	0.54385	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.315171	0.35555	N	0.003138	D	0.84000	0.5376	N	0.20483	0.58	0.09310	N	1	B;B;B;B	0.23128	0.08;0.025;0.002;0.025	B;B;B;B	0.25506	0.061;0.015;0.005;0.015	T	0.76675	-0.2872	10	0.72032	D	0.01	-14.3974	12.9309	0.58286	0.078:0.0:0.922:0.0	.	436;342;292;342	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	I	342;292;436	ENSP00000302227:T342I;ENSP00000317342:T292I;ENSP00000399415:T436I	ENSP00000302227:T342I	T	-	2	0	CCBL1	130637598	0.692000	0.27719	0.400000	0.26346	0.992000	0.81027	3.437000	0.52863	1.258000	0.44101	0.436000	0.28706	ACA		0.617	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			25	40	0	0	0	1	0	25	40				
IGFALS	3483	broad.mit.edu	37	16	1837967	1837967	+	IGR	SNP	G	G	A	rs143322275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1837967G>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000543305.1_Missense_Mutation_p.R31H|NUBP2_ENST00000568706.1_Missense_Mutation_p.R31H|NUBP2_ENST00000565987.1_Missense_Mutation_p.R112H|NUBP2_ENST00000565134.1_Missense_Mutation_p.R172H|NUBP2_ENST00000262302.9_Missense_Mutation_p.R172H			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GACGTGAGGCGCGAGCTGACC	0.682																																						ENST00000262302.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(514-516)cGc>cAc		nucleotide binding protein 2		G	HIS/ARG	0,4396		0,0,2198	78.0	79.0	79.0		515	3.3	1.0	16	dbSNP_134	79	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NUBP2	NM_012225.2	29	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	172/272	1837967	3,12993	2198	4300	6498	SO:0001628	intergenic_variant	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1837967G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1837967G>A						NUBP2_ENST00000568706.1_Missense_Mutation_p.R31H|NUBP2_ENST00000565134.1_Missense_Mutation_p.R172H|NUBP2_ENST00000565987.1_Missense_Mutation_p.R112H|NUBP2_ENST00000543305.1_Missense_Mutation_p.R31H	p.R172H	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN			5	635	+			172					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.515G>A	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485665	0.84854	0.0	3.49E-4	ENSG00000095906	ENST00000262302;ENST00000543305	T;T	0.36520	1.25;1.25	4.24	3.28	0.37604	.	0.061045	0.64402	D	0.000004	T	0.66218	0.2767	M	0.94101	3.495	0.49389	D	0.999784	D	0.89917	1.0	D	0.79784	0.993	T	0.73297	-0.4027	10	0.87932	D	0	-1.8951	10.7892	0.46424	0.0949:0.0:0.9051:0.0	.	172	Q9Y5Y2	NUBP2_HUMAN	H	172;31	ENSP00000262302:R172H;ENSP00000437763:R31H	ENSP00000262302:R172H	R	+	2	0	NUBP2	1777968	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	9.462000	0.97649	0.998000	0.38996	0.561000	0.74099	CGC		0.682	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			30	39	0	0	0	1	0	30	39				
UVSSA	57654	broad.mit.edu	37	4	1369293	1369293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1369293C>T	ENST00000389851.4	+	9	1877	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	UVSSA_ENST00000507531.1_Missense_Mutation_p.A477V|UVSSA_ENST00000511216.1_Missense_Mutation_p.A477V|UVSSA_ENST00000512728.1_Missense_Mutation_p.A28V|UVSSA_ENST00000511563.1_Missense_Mutation_p.A28V	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	477					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCCTCATCTGCCAGGTGACTC	0.677																																						ENST00000389851.4																			0											c.(1429-1431)gCc>gTc		UV-stimulated scaffold protein A							72.0	66.0	68.0					4																	1369293		2203	4299	6502	SO:0001583	missense	57654							g.chr4:1369293C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1430C>T	4.37:g.1369293C>T	ENSP00000374501:p.Ala477Val					UVSSA_ENST00000511216.1_Missense_Mutation_p.A477V|UVSSA_ENST00000511563.1_Missense_Mutation_p.A28V|UVSSA_ENST00000507531.1_Missense_Mutation_p.A477V|UVSSA_ENST00000512728.1_Missense_Mutation_p.A28V	p.A477V	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			9	1877	+			477					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1430C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	4.137	0.023777	0.08006	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.42900	1.59;1.59;1.59;0.96;0.96	3.97	0.972	0.19704	.	1.153180	0.06103	N	0.665699	T	0.22437	0.0541	N	0.14661	0.345	0.19575	N	0.999962	B	0.24882	0.113	B	0.21151	0.033	T	0.21655	-1.0239	10	0.28530	T	0.3	.	2.1522	0.03803	0.2028:0.4867:0.1972:0.1133	.	477	Q2YD98	K1530_HUMAN	V	28;477;477;477;28;28	ENSP00000425130:A477V;ENSP00000374501:A477V;ENSP00000421741:A477V;ENSP00000423340:A28V;ENSP00000427701:A28V	ENSP00000296312:A28V	A	+	2	0	KIAA1530	1359293	0.541000	0.26417	0.537000	0.28052	0.122000	0.20287	0.714000	0.25808	0.436000	0.26393	-0.182000	0.12963	GCC		0.677	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		18	24	0	0	0	1	0	18	24				
SLC7A2	6542	broad.mit.edu	37	8	17415834	17415834	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17415834C>T	ENST00000494857.1	+	9	1444	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	SLC7A2_ENST00000470360.1_Missense_Mutation_p.A448V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A449V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A409V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A448V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	409					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCTGAAGGCGCTTGTGGAC	0.507																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1342-1344)gCg>gTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						209.0	173.0	185.0					8																	17415834		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17415834C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1226C>T	8.37:g.17415834C>T	ENSP00000419140:p.Ala409Val					SLC7A2_ENST00000494857.1_Missense_Mutation_p.A409V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A409V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A448V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A449V	p.A448V			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	10	1460	+			409					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1343C>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219760	0.58560	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.38	4.51	0.55191	Amino acid permease domain (1);	0.046049	0.85682	N	0.000000	D	0.91236	0.7238	N	0.21324	0.655	0.58432	D	0.999999	P;P;D	0.76494	0.839;0.948;0.999	B;B;D	0.72982	0.445;0.355;0.979	D	0.92299	0.5848	10	0.62326	D	0.03	.	14.5856	0.68322	0.0:0.9294:0.0:0.0706	.	449;448;409	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	V	409;409;448;449;448	ENSP00000419140:A409V;ENSP00000430464:A409V;ENSP00000419873:A448V;ENSP00000004531:A449V;ENSP00000381164:A448V	ENSP00000004531:A449V	A	+	2	0	SLC7A2	17460126	1.000000	0.71417	0.882000	0.34594	0.589000	0.36550	4.819000	0.62664	1.414000	0.47017	-0.291000	0.09656	GCG		0.507	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		26	36	0	0	0	1	0	26	36				
LAMA5	3911	broad.mit.edu	37	20	60909037	60909037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60909037C>T	ENST00000252999.3	-	23	2864	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	933	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTTGACGTATCGGAAGACGAG	0.667																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2797-2799)cGa>cAa		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						38.0	33.0	35.0					20																	60909037		2201	4298	6499	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60909037C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2798G>A	20.37:g.60909037C>T	ENSP00000252999:p.Arg933Gln						p.R933Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		23	2864	-	Breast(26;1.57e-08)		933			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2798G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	17.68	3.448986	0.63178	.	.	ENSG00000130702	ENST00000252999	T	0.27402	1.67	4.54	4.54	0.55810	.	0.115566	0.64402	U	0.000011	T	0.54743	0.1877	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	T	0.63193	-0.6692	10	0.72032	D	0.01	.	17.2619	0.87072	0.0:1.0:0.0:0.0	.	933	O15230	LAMA5_HUMAN	Q	933	ENSP00000252999:R933Q	ENSP00000252999:R933Q	R	-	2	0	LAMA5	60342432	1.000000	0.71417	0.933000	0.37362	0.141000	0.21300	3.011000	0.49567	2.049000	0.60858	0.543000	0.68304	CGA		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		7	12	0	0	0	1	0	7	12				
MUS81	80198	broad.mit.edu	37	11	65632736	65632736	+	Missense_Mutation	SNP	C	C	T	rs368415771		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65632736C>T	ENST00000308110.4	+	14	1796	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.R408C	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	483					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GATGCAGGTGCGCGGAGTGAG	0.647								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1447-1449)Cgc>Tgc	Homologous recombination	MUS81 structure-specific endonuclease subunit		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	95.0	96.0	96.0		1447	1.3	0.1	11		96	0,8592		0,0,4296	no	missense	MUS81	NM_025128.4	180	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	483/552	65632736	1,12993	2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65632736C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1447C>T	11.37:g.65632736C>T	ENSP00000307853:p.Arg483Cys					MUS81_ENST00000533035.1_Missense_Mutation_p.R408C	p.R483C	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	14	1796	+			483					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1447C>T	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.92|14.92	2.680311|2.680311	0.47886|0.47886	2.27E-4|2.27E-4	0.0|0.0	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	.|T;T;T	.|0.49720	.|2.37;2.6;0.77	5.75|5.75	1.28|1.28	0.21552|0.21552	.|Helix-hairpin-helix DNA-binding motif, class 1 (1);	.|0.186216	.|0.56097	.|N	.|0.000031	T|T	0.41604|0.41604	0.1166|0.1166	M|M	0.77820|0.77820	2.39|2.39	0.22096|0.22096	N|N	0.999363|0.999363	.|P	.|0.52061	.|0.95	.|B	.|0.40636	.|0.335	T|T	0.43766|0.43766	-0.9371|-0.9371	5|10	.|0.59425	.|D	.|0.04	-4.7541|-4.7541	3.6413|3.6413	0.08168|0.08168	0.4093:0.3745:0.1337:0.0825|0.4093:0.3745:0.1337:0.0825	.|.	.|483	.|Q96NY9	.|MUS81_HUMAN	V|C	408|408;483;483;16	.|ENSP00000432287:R408C;ENSP00000307853:R483C;ENSP00000435277:R16C	.|ENSP00000307853:R483C	A|R	+|+	2|1	0|0	MUS81|MUS81	65389312|65389312	0.892000|0.892000	0.30473|0.30473	0.070000|0.070000	0.20053|0.20053	0.936000|0.936000	0.57629|0.57629	2.406000|2.406000	0.44557|0.44557	0.261000|0.261000	0.21753|0.21753	0.511000|0.511000	0.50034|0.50034	GCG|CGC		0.647	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		31	49	0	0	0	1	0	31	49				
CACNA1H	8912	broad.mit.edu	37	16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGTTCTGCGCGTGCTGCGTCT	0.682																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4189-4191)Gtg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						92.0	108.0	103.0					16																	1260937		2191	4276	6467	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1260937G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4189G>A	16.37:g.1260937G>A	ENSP00000334198:p.Val1397Met					CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M	p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			21	4437	+		Hepatocellular(780;0.00369)	1397					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4189G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871832	0.72180	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98807	-5.15;-5.15	4.25	4.25	0.50352	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	M	0.87827	2.91	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.997;0.996;0.999	D	0.99133	1.0853	10	0.87932	D	0	.	16.1494	0.81602	0.0:0.0:1.0:0.0	.	138;138;138;1397;1397	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	M	1397	ENSP00000334198:V1397M;ENSP00000351401:V1397M	ENSP00000334198:V1397M	V	+	1	0	CACNA1H	1200938	1.000000	0.71417	0.996000	0.52242	0.317000	0.28152	9.441000	0.97557	2.367000	0.80283	0.591000	0.81541	GTG		0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		50	58	0	0	0	1	0	50	58				
IL18RAP	8807	broad.mit.edu	37	2	103068357	103068357	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068357A>G	ENST00000264260.2	+	12	2105	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T364A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	506	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGATCAAACACTGAAACT	0.413																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1516-1518)Aca>Gca		interleukin 18 receptor accessory protein							119.0	121.0	120.0					2																	103068357		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068357A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1516A>G	2.37:g.103068357A>G	ENSP00000264260:p.Thr506Ala					IL18RAP_ENST00000409369.1_Missense_Mutation_p.T364A	p.T506A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2105	+			506			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1516A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501092	0.44455	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02421	4.3;4.3	6.02	4.87	0.63330	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.391514	0.25014	N	0.033810	T	0.03477	0.0100	L	0.52905	1.665	0.09310	N	1	P	0.47484	0.896	B	0.43301	0.415	T	0.27606	-1.0069	10	0.10377	T	0.69	.	6.4612	0.21958	0.7315:0.1322:0.1364:0.0	.	506	O95256	I18RA_HUMAN	A	506;364	ENSP00000264260:T506A;ENSP00000387201:T364A	ENSP00000264260:T506A	T	+	1	0	IL18RAP	102434789	0.308000	0.24509	0.013000	0.15412	0.988000	0.76386	2.286000	0.43496	1.105000	0.41606	0.528000	0.53228	ACA		0.413	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		43	53	0	0	0	1	0	43	53				
SLC25A6	293	broad.mit.edu	37	X	1508334	1508334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1508334G>A	ENST00000381401.5	-	2	1112	c.398C>T	c.(397-399)cCg>cTg	p.P133L	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	133					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GAAATCCAGCGGGTACACGAA	0.662																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(397-399)cCg>cTg		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						113.0	121.0	118.0					X																	1508334		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508334G>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.398C>T	X.37:g.1508334G>A	ENSP00000370808:p.Pro133Leu					SLC25A6_ENST00000475167.1_5'UTR	p.P133L	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1112	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	133					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.398C>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	18.52	3.641561	0.67244	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	D	0.96940	-4.18	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000036	D	0.98899	0.9627	H	0.99968	5.105	0.09310	N	1	D	0.56287	0.975	P	0.60541	0.876	D	0.93893	0.7181	10	0.87932	D	0	.	12.0543	0.53524	0.0:0.0:1.0:0.0	.	133	P12236	ADT3_HUMAN	L	133	ENSP00000370808:P133L	ENSP00000370808:P133L	P	-	2	0	SLC25A6	1468334	1.000000	0.71417	0.745000	0.31077	0.819000	0.46315	7.368000	0.79567	0.982000	0.38575	0.402000	0.26972	CCG		0.662	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		57	74	0	0	0	1	0	57	74				
GTF2H1	2965	broad.mit.edu	37	11	18379514	18379514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18379514G>A	ENST00000265963.4	+	12	1436	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	GTF2H1_ENST00000530496.2_Missense_Mutation_p.A114T|GTF2H1_ENST00000526630.2_Missense_Mutation_p.A16T|GTF2H1_ENST00000534641.1_Missense_Mutation_p.A310T|GTF2H1_ENST00000453096.2_Missense_Mutation_p.A426T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	426					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCAAGTAGTGCTGCCAGTAG	0.428								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1276-1278)Gct>Act	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							78.0	68.0	72.0					11																	18379514		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18379514G>A		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1276G>A	11.37:g.18379514G>A	ENSP00000265963:p.Ala426Thr					GTF2H1_ENST00000453096.2_Missense_Mutation_p.A426T|GTF2H1_ENST00000530496.2_Missense_Mutation_p.A114T|GTF2H1_ENST00000534641.1_Missense_Mutation_p.A310T|GTF2H1_ENST00000526630.2_Missense_Mutation_p.A16T	p.A426T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			12	1436	+			426					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.1276G>A	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288837	0.59976	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496;ENST00000526630	T;T;T;T;T	0.50813	1.81;1.78;1.81;0.73;0.82	5.66	5.66	0.87406	.	0.099200	0.64402	D	0.000002	T	0.49184	0.1542	M	0.61703	1.905	0.80722	D	1	B	0.17465	0.022	B	0.19946	0.027	T	0.41142	-0.9525	10	0.21540	T	0.41	-11.316	19.752	0.96271	0.0:0.0:1.0:0.0	.	426	P32780	TF2H1_HUMAN	T	426;310;426;114;16	ENSP00000393638:A426T;ENSP00000435375:A310T;ENSP00000265963:A426T;ENSP00000433133:A114T;ENSP00000439774:A16T	ENSP00000265963:A426T	A	+	1	0	GTF2H1	18336090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.103000	0.71492	2.668000	0.90789	0.462000	0.41574	GCT		0.428	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		17	24	0	0	0	1	0	17	24				
PTPRU	10076	broad.mit.edu	37	1	29644280	29644280	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29644280G>A	ENST00000345512.3	+	26	3693	c.3564G>A	c.(3562-3564)ccG>ccA	p.P1188P	PTPRU_ENST00000323874.8_Silent_p.P1184P|PTPRU_ENST00000373779.3_Silent_p.P1178P|PTPRU_ENST00000460170.2_Silent_p.P1184P|PTPRU_ENST00000356870.3_Silent_p.P1184P|PTPRU_ENST00000428026.2_Silent_p.P1175P	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1188	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGTCACCCCGCCGCTGGACG	0.672																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(3532-3534)ccG>ccA		protein tyrosine phosphatase, receptor type, U							75.0	62.0	67.0					1																	29644280		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29644280G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3564G>A	1.37:g.29644280G>A						PTPRU_ENST00000428026.2_Silent_p.P1175P|PTPRU_ENST00000460170.2_Silent_p.P1184P|PTPRU_ENST00000356870.3_Silent_p.P1184P|PTPRU_ENST00000323874.8_Silent_p.P1184P|PTPRU_ENST00000345512.3_Silent_p.P1188P	p.P1178P	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	25	3663	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1188			Tyrosine-protein phosphatase 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.3534G>A	CCDS334.1																																																																																				0.672	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			22	21	0	0	0	1	0	22	21				
MUC17	140453	broad.mit.edu	37	7	100681191	100681191	+	Missense_Mutation	SNP	G	G	A	rs148535690		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100681191G>A	ENST00000306151.4	+	3	6558	c.6494G>A	c.(6493-6495)aGt>aAt	p.S2165N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2165	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTTTAACAAGTATGCCTGTC	0.468																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6493-6495)aGt>aAt		mucin 17, cell surface associated							234.0	231.0	232.0					7																	100681191		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681191G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6494G>A	7.37:g.100681191G>A	ENSP00000302716:p.Ser2165Asn						p.S2165N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6558	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2165			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6494G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.480	-0.880103	0.02530	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	P	0.42584	0.784	B	0.28638	0.092	T	0.50608	-0.8808	8	0.24483	T	0.36	.	.	.	.	.	2165	Q685J3	MUC17_HUMAN	N	2165	ENSP00000302716:S2165N	ENSP00000302716:S2165N	S	+	2	0	MUC17	100467911	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-0.985000	0.03751	0.132000	0.18615	0.134000	0.15878	AGT		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		20	315	0	0	0	1	0	20	315				
PTPRD	5789	broad.mit.edu	37	9	8471069	8471069	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8471069T>A	ENST00000381196.4	-	28	3973	c.3430A>T	c.(3430-3432)Att>Ttt	p.I1144F	PTPRD_ENST00000397611.3_Missense_Mutation_p.I730F|PTPRD_ENST00000537002.1_Missense_Mutation_p.I730F|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1131F|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1122F|PTPRD_ENST00000355233.5_Missense_Mutation_p.I733F|PTPRD_ENST00000486161.1_Missense_Mutation_p.I733F|PTPRD_ENST00000397617.3_Missense_Mutation_p.I723F|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1144F|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1144F|PTPRD_ENST00000397606.3_Missense_Mutation_p.I723F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1144					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGGCACAATTATTATGTAG	0.393										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3430-3432)Att>Ttt		protein tyrosine phosphatase, receptor type, D							120.0	118.0	119.0					9																	8471069		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8471069T>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3430A>T	9.37:g.8471069T>A	ENSP00000370593:p.Ile1144Phe	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.I1144F|PTPRD_ENST00000355233.5_Missense_Mutation_p.I733F|PTPRD_ENST00000397606.3_Missense_Mutation_p.I723F|PTPRD_ENST00000397617.3_Missense_Mutation_p.I723F|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1144F|PTPRD_ENST00000397611.3_Missense_Mutation_p.I730F|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1131F|PTPRD_ENST00000537002.1_Missense_Mutation_p.I730F|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1122F|PTPRD_ENST00000486161.1_Missense_Mutation_p.I733F	p.I1144F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	28	3973	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1144					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3430A>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.312032	0.60414	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.72	5.72	0.89469	.	0.053881	0.64402	D	0.000001	T	0.45975	0.1369	N	0.08118	0	0.58432	D	0.999996	P;B;B;P;B;P;B;B;B	0.51537	0.848;0.072;0.18;0.933;0.159;0.946;0.064;0.164;0.0	P;B;B;P;B;P;B;B;B	0.54499	0.564;0.031;0.051;0.462;0.358;0.754;0.017;0.081;0.0	T	0.46803	-0.9165	9	.	.	.	.	15.6732	0.77295	0.0:0.0:0.0:1.0	.	723;728;733;733;730;730;1131;1144;1144	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1144;1144;1131;1122;733;723;730;730;615;1144;733;723	ENSP00000370593:I1144F;ENSP00000348812:I1144F;ENSP00000353187:I1131F;ENSP00000351293:I1122F;ENSP00000347373:I733F;ENSP00000380741:I723F;ENSP00000380735:I730F;ENSP00000440515:I730F;ENSP00000438164:I1144F;ENSP00000417093:I733F;ENSP00000380731:I723F	.	I	-	1	0	PTPRD	8461069	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.089000	0.57685	2.189000	0.69895	0.533000	0.62120	ATT		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			43	74	0	0	0	1	0	43	74				
CTNS	1497	broad.mit.edu	37	17	3559990	3559990	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3559990C>T	ENST00000046640.3	+	9	1175	c.582C>T	c.(580-582)taC>taT	p.Y194Y	CTNS_ENST00000441220.2_Silent_p.Y86Y|CTNS_ENST00000381870.3_Silent_p.Y194Y|CTNS_ENST00000414524.2_Silent_p.Y47Y|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	194					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCCTCAAATACCCCAACGGAG	0.597																																						ENST00000046640.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10						c.(580-582)taC>taT		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)						169.0	141.0	151.0					17																	3559990		2203	4300	6503	SO:0001819	synonymous_variant	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3559990C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.582C>T	17.37:g.3559990C>T						CTNS_ENST00000414524.2_Silent_p.Y47Y|CTNS_ENST00000381870.3_Silent_p.Y194Y|CTNS_ENST00000441220.2_Silent_p.Y86Y|RP11-235E17.6_ENST00000575741.1_RNA	p.Y194Y	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	9	1175	+			194					D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.582C>T	CCDS11031.1																																																																																				0.597	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		24	37	0	0	0	1	0	24	37				
KIF20B	9585	broad.mit.edu	37	10	91518496	91518496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91518496A>G	ENST00000371728.3	+	27	4602	c.4537A>G	c.(4537-4539)Agt>Ggt	p.S1513G	KIF20B_ENST00000416354.1_Missense_Mutation_p.S1543G|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1473G|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1513G	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1513					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAGAAAGATAGTGACCTTCA	0.338																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(4627-4629)Agt>Ggt		kinesin family member 20B							65.0	61.0	63.0					10																	91518496		2202	4300	6502	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91518496A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4537A>G	10.37:g.91518496A>G	ENSP00000360793:p.Ser1513Gly					KIF20B_ENST00000394289.2_Missense_Mutation_p.S1513G|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1513G|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1473G	p.S1543G			Q96Q89	KI20B_HUMAN			27	4699	+			1513					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.4627A>G		.	.	.	.	.	.	.	.	.	.	A	6.132	0.392567	0.11638	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.91	-1.41	0.08941	.	1.130380	0.06506	N	0.737234	T	0.20292	0.0488	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.24333	-1.0163	10	0.14252	T	0.57	0.812	7.9595	0.30062	0.5348:0.1096:0.3556:0.0	.	1513;1473	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	G	1473;1543;1513;1513	ENSP00000260753:S1473G;ENSP00000411545:S1543G;ENSP00000377830:S1513G;ENSP00000360793:S1513G	ENSP00000260753:S1473G	S	+	1	0	KIF20B	91508476	0.000000	0.05858	0.010000	0.14722	0.939000	0.58152	0.078000	0.14761	-0.120000	0.11809	0.533000	0.62120	AGT		0.338	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		6	14	0	0	0	1	0	6	14				
GLDC	2731	broad.mit.edu	37	9	6602179	6602179	+	Missense_Mutation	SNP	C	C	T	rs535771852		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6602179C>T	ENST00000321612.6	-	8	1235	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	362					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AAGAGCAAGACGATACACTTC	0.448																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1084-1086)cGt>cAt		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						248.0	188.0	208.0					9																	6602179		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6602179C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1085G>A	9.37:g.6602179C>T	ENSP00000370737:p.Arg362His						p.R362H	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	8	1235	-		Acute lymphoblastic leukemia(23;0.161)	362					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1085G>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256961	0.95336	.	.	ENSG00000178445	ENST00000321612	D	0.96427	-4.01	4.81	4.81	0.61882	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99226	1.0880	10	0.87932	D	0	-14.8524	18.4464	0.90685	0.0:1.0:0.0:0.0	.	362	P23378	GCSP_HUMAN	H	362	ENSP00000370737:R362H	ENSP00000370737:R362H	R	-	2	0	GLDC	6592179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.259000	0.78381	2.673000	0.90976	0.555000	0.69702	CGT		0.448	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		20	40	0	0	0	1	0	20	40				
ATM	472	broad.mit.edu	37	11	108165730	108165730	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108165730G>A	ENST00000452508.2	+	33	5042	c.4853G>A	c.(4852-4854)cGa>cAa	p.R1618Q	ATM_ENST00000278616.4_Missense_Mutation_p.R1618Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1618					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGGATCTTCGAAGACAACTG	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Complex - deletion inframe(1)	p.E1612_Q1620>*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4852-4854)cGa>cAa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							156.0	156.0	156.0					11																	108165730		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108165730G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4853G>A	11.37:g.108165730G>A	ENSP00000388058:p.Arg1618Gln	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R1618Q	p.R1618Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	32	5238	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1618					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4853G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134709	0.56828	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69806	-0.43;-0.43	5.55	3.68	0.42216	Armadillo-type fold (1);	0.417641	0.25264	N	0.031927	T	0.62073	0.2398	M	0.62723	1.935	0.33043	D	0.531744	B	0.18166	0.026	B	0.17722	0.019	T	0.64728	-0.6339	10	0.35671	T	0.21	.	11.7433	0.51804	0.1426:0.0:0.8574:0.0	.	1618	Q13315	ATM_HUMAN	Q	1618	ENSP00000278616:R1618Q;ENSP00000388058:R1618Q	ENSP00000278616:R1618Q	R	+	2	0	ATM	107670940	0.998000	0.40836	0.971000	0.41717	0.987000	0.75469	2.111000	0.41883	0.695000	0.31675	0.650000	0.86243	CGA		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		49	66	0	0	0	1	0	49	66				
KMT2C	58508	broad.mit.edu	37	7	151878436	151878436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151878436G>A	ENST00000262189.6	-	36	6727	c.6509C>T	c.(6508-6510)aCt>aTt	p.T2170I	KMT2C_ENST00000355193.2_Missense_Mutation_p.T2170I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2170	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGGTCAACAGTAGTAGGCCG	0.463																																						ENST00000355193.2																			0											c.(6508-6510)aCt>aTt		lysine (K)-specific methyltransferase 2C							123.0	126.0	125.0					7																	151878436		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878436G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6509C>T	7.37:g.151878436G>A	ENSP00000262189:p.Thr2170Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.T2170I	p.T2170I							36	6727	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6509C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.505	0.865179	0.17250	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83837	-1.77;-1.77	5.51	5.51	0.81932	.	0.460059	0.18079	N	0.152371	D	0.83505	0.5269	L	0.47716	1.5	0.80722	D	1	B;P	0.41265	0.437;0.744	B;B	0.44044	0.143;0.439	D	0.84495	0.0613	10	0.62326	D	0.03	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	2170;1231	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	I	2170	ENSP00000262189:T2170I;ENSP00000347325:T2170I	ENSP00000262189:T2170I	T	-	2	0	MLL3	151509369	0.006000	0.16342	0.006000	0.13384	0.219000	0.24729	1.558000	0.36309	2.600000	0.87896	0.655000	0.94253	ACT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			41	96	0	0	0	1	0	41	96				
SMAD1	4086	broad.mit.edu	37	4	146435905	146435905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146435905C>T	ENST00000515385.1	+	2	682	c.140C>T	c.(139-141)gCc>gTc	p.A47V	RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000302085.4_Missense_Mutation_p.A47V|SMAD1_ENST00000394092.2_Missense_Mutation_p.A47V			Q15797	SMAD1_HUMAN	SMAD family member 1	47	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAGGTGCCATGGAGGAA	0.512																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(139-141)gCc>gTc		SMAD family member 1							81.0	79.0	79.0					4																	146435905		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146435905C>T	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.140C>T	4.37:g.146435905C>T	ENSP00000426568:p.Ala47Val					SMAD1_ENST00000394092.2_Missense_Mutation_p.A47V|SMAD1_ENST00000302085.4_Missense_Mutation_p.A47V|RP11-301H24.4_ENST00000513542.1_RNA	p.A47V			Q15797	SMAD1_HUMAN			2	682	+	all_hematologic(180;0.151)		47			MH1.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.140C>T	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940695	0.92526	.	.	ENSG00000170365	ENST00000514778;ENST00000507594;ENST00000514831;ENST00000302085;ENST00000512019;ENST00000503324;ENST00000394092;ENST00000515385	T;T;T;T;T;D;T;T	0.84146	-1.07;-1.07;-1.07;-1.07;-1.07;-1.81;-1.07;-1.07	4.83	4.83	0.62350	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.67569	2.06	0.80722	D	1	B;P	0.36974	0.059;0.576	B;P	0.50440	0.013;0.641	D	0.90497	0.4471	10	0.62326	D	0.03	.	18.2864	0.90115	0.0:1.0:0.0:0.0	.	47;47	D6RD62;Q15797	.;SMAD1_HUMAN	V	47	ENSP00000424959:A47V;ENSP00000424649:A47V;ENSP00000425270:A47V;ENSP00000305769:A47V;ENSP00000427002:A47V;ENSP00000422706:A47V;ENSP00000377652:A47V;ENSP00000426568:A47V	ENSP00000305769:A47V	A	+	2	0	SMAD1	146655355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.383000	0.81215	0.655000	0.94253	GCC		0.512	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		16	17	0	0	0	1	0	16	17				
XRN2	22803	broad.mit.edu	37	20	21327052	21327052	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21327052G>T	ENST00000377191.3	+	17	1624		c.e17-1		XRN2_ENST00000430571.2_Splice_Site|XRN2_ENST00000539513.1_Splice_Site	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2						cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCTGGTTTTAGGTTATGGGAA	0.418																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.e17-1		5'-3' exoribonuclease 2							136.0	132.0	133.0					20																	21327052		2203	4300	6503	SO:0001630	splice_region_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21327052G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1530-1G>T	20.37:g.21327052G>T						XRN2_ENST00000539513.1_Splice_Site|XRN2_ENST00000430571.2_Splice_Site		NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			17	1624	+								Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Splice_Site	SNP	ENST00000377191.3	37		CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642190	0.87859	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8208	0.96592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XRN2	21275052	1.000000	0.71417	0.988000	0.46212	0.923000	0.55619	9.444000	0.97578	2.680000	0.91292	0.591000	0.81541	.		0.418	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	Intron	14	99	1	0	0.000151284	1	0.000166931	14	99				
CCDC112	153733	broad.mit.edu	37	5	114604589	114604589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114604589T>C	ENST00000512261.1	-	10	1704	c.1288A>G	c.(1288-1290)Atc>Gtc	p.I430V	CCDC112_ENST00000379611.5_Missense_Mutation_p.I513V|CCDC112_ENST00000395557.4_Missense_Mutation_p.I430V|CCDC112_ENST00000506442.1_Missense_Mutation_p.I398V			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	430										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTATGTGGGATATGTAGAAGT	0.353																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1537-1539)Atc>Gtc		coiled-coil domain containing 112							186.0	178.0	181.0					5																	114604589		2202	4300	6502	SO:0001583	missense	153733							g.chr5:114604589T>C	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1288A>G	5.37:g.114604589T>C	ENSP00000423712:p.Ile430Val					CCDC112_ENST00000512261.1_Missense_Mutation_p.I430V|CCDC112_ENST00000395557.4_Missense_Mutation_p.I430V|CCDC112_ENST00000506442.1_Missense_Mutation_p.I398V	p.I513V	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	9	1824	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	430					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1537A>G	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.052577	0.75960	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21543	2.07;2.11;2.0;2.11	5.9	5.9	0.94986	.	0.105618	0.64402	D	0.000008	T	0.41213	0.1149	M	0.62723	1.935	0.33695	D	0.613798	D;P;P	0.56968	0.978;0.746;0.592	P;P;P	0.60286	0.872;0.488;0.488	T	0.56323	-0.7998	10	0.62326	D	0.03	-8.7809	15.3534	0.74409	0.0:0.0:0.0:1.0	.	398;513;430	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	V	513;430;398;430	ENSP00000368931:I513V;ENSP00000423712:I430V;ENSP00000424876:I398V;ENSP00000378925:I430V	ENSP00000368931:I513V	I	-	1	0	CCDC112	114632488	1.000000	0.71417	0.981000	0.43875	0.904000	0.53231	3.595000	0.54016	2.262000	0.75019	0.529000	0.55759	ATC		0.353	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		7	68	0	0	0	1	0	7	68				
CPD	1362	broad.mit.edu	37	17	28750624	28750624	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28750624A>C	ENST00000225719.4	+	6	1834	c.1758A>C	c.(1756-1758)ggA>ggC	p.G586G	CPD_ENST00000543464.2_Silent_p.G339G	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	586	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAACTTTGGAACAGACCCTG	0.388																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(1756-1758)ggA>ggC		carboxypeptidase D							138.0	132.0	134.0					17																	28750624		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28750624A>C	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1758A>C	17.37:g.28750624A>C						CPD_ENST00000543464.2_Silent_p.G339G	p.G586G	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			6	1834	+			586			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.1758A>C	CCDS11257.1																																																																																				0.388	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		18	53	0	0	0	1	0	18	53				
CRNKL1	51340	broad.mit.edu	37	20	20030056	20030056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20030056C>A	ENST00000377340.2	-	4	738	c.707G>T	c.(706-708)aGa>aTa	p.R236I	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R224I|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R75I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	236					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCTGTTTTTTCTTATATTATC	0.343																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(706-708)aGa>aTa		crooked neck pre-mRNA splicing factor 1							107.0	101.0	103.0					20																	20030056		2201	4299	6500	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20030056C>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.707G>T	20.37:g.20030056C>A	ENSP00000366557:p.Arg236Ile					CRNKL1_ENST00000377327.4_Missense_Mutation_p.R224I|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R75I	p.R236I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			4	738	-			236					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.707G>T	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201589	0.94997	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.43688	0.94;0.94;0.94	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.79784	0.665;0.993	T	0.78303	-0.2256	10	0.62326	D	0.03	-18.8347	20.126	0.97982	0.0:1.0:0.0:0.0	.	224;236	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	I	224;236;75	ENSP00000366544:R224I;ENSP00000366557:R236I;ENSP00000440733:R75I	ENSP00000366544:R224I	R	-	2	0	CRNKL1	19978056	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.818000	0.86416	2.749000	0.94314	0.655000	0.94253	AGA		0.343	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			13	22	1	0	4.36969e-10	1	5.35656e-10	13	22				
SLC35C2	51006	broad.mit.edu	37	20	44983845	44983845	+	Silent	SNP	G	G	A	rs201199146		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44983845G>A	ENST00000372227.1	-	6	984	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SLC35C2_ENST00000493599.1_5'Flank|SLC35C2_ENST00000372229.1_Silent_p.A15A|SLC35C2_ENST00000317734.8_Intron|SLC35C2_ENST00000372230.5_Silent_p.A148A|SLC35C2_ENST00000543605.1_Silent_p.A177A|SLC35C2_ENST00000243896.2_Silent_p.A148A	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	148					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGAGACCCCCGGCGATGAGGA	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20537	0.0		0.0	False		,,,				2504	0.0					ENST00000372227.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16						c.(442-444)gcC>gcT		solute carrier family 35 (GDP-fucose transporter), member C2		G	,,	1,4405	2.1+/-5.4	0,1,2202	44.0	35.0	38.0		444,,444	-5.4	0.9	20		38	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous	SLC35C2	NM_015945.10,NM_173073.2,NM_173179.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	148/366,,148/366	44983845	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51006				transport	integral to membrane		g.chr20:44983845G>A		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.444C>T	20.37:g.44983845G>A						SLC35C2_ENST00000543605.1_Silent_p.A177A|SLC35C2_ENST00000317734.8_Intron|SLC35C2_ENST00000372229.1_Silent_p.A15A|SLC35C2_ENST00000372230.5_Silent_p.A148A|SLC35C2_ENST00000243896.2_Silent_p.A148A	p.A148A			Q9NQQ7	S35C2_HUMAN			6	984	-		Myeloproliferative disorder(115;0.0122)	148					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Silent	SNP	ENST00000372227.1	37	c.444C>T	CCDS13396.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.724	0.318039	0.10845	2.27E-4	0.0	ENSG00000080189	ENST00000372223;ENST00000424568	.	.	.	5.28	-5.44	0.02624	.	.	.	.	.	T	0.28034	0.0691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24548	-1.0157	5	0.09338	T	0.73	-9.6877	5.2398	0.15465	0.6294:0.1053:0.159:0.1063	.	.	.	.	L	124	.	ENSP00000361297:P124L	P	-	2	0	SLC35C2	44417252	0.301000	0.24444	0.914000	0.36105	0.995000	0.86356	-0.306000	0.08178	-0.895000	0.03920	-0.150000	0.13652	CCG		0.607	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		12	23	0	0	0	1	0	12	23				
CCDC87	55231	broad.mit.edu	37	11	66359608	66359608	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66359608G>T	ENST00000333861.3	-	1	946	c.879C>A	c.(877-879)ccC>ccA	p.P293P	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	293					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCCTGCTGGTGGGGGCCACAG	0.607																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(877-879)ccC>ccA		coiled-coil domain containing 87							49.0	52.0	51.0					11																	66359608		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359608G>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.879C>A	11.37:g.66359608G>T							p.P293P	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	946	-			293					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.879C>A	CCDS8145.1																																																																																				0.607	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		8	86	1	0	1.12685e-05	1	1.27857e-05	8	86				
MXRA5	25878	broad.mit.edu	37	X	3238348	3238348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3238348G>A	ENST00000217939.6	-	5	5532	c.5378C>T	c.(5377-5379)cCg>cTg	p.P1793L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1793						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGGTCTGCGGAGTGTGCAA	0.483																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5377-5379)cCg>cTg		matrix-remodelling associated 5							84.0	79.0	81.0					X																	3238348		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238348G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5378C>T	X.37:g.3238348G>A	ENSP00000217939:p.Pro1793Leu						p.P1793L	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5532	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1793					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5378C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305431	0.23736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63096	-0.02	3.53	3.53	0.40419	.	0.000000	0.38663	U	0.001610	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	P	0.49307	0.922	B	0.36719	0.231	T	0.21965	-1.0230	10	0.11485	T	0.65	.	9.8006	0.40761	0.1055:0.0:0.8945:0.0	.	1793	Q9NR99	MXRA5_HUMAN	L	1793	ENSP00000217939:P1793L	ENSP00000217939:P1793L	P	-	2	0	MXRA5	3248348	0.010000	0.17322	0.007000	0.13788	0.025000	0.11179	1.781000	0.38644	1.399000	0.46721	0.464000	0.42555	CCG		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		16	16	0	0	0	1	0	16	16				
FLNA	2316	broad.mit.edu	37	X	153587864	153587864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153587864G>A	ENST00000369850.3	-	24	4366	c.4130C>T	c.(4129-4131)aCt>aTt	p.T1377I	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.T1377I|FLNA_ENST00000344736.4_Missense_Mutation_p.T1377I|FLNA_ENST00000360319.4_Missense_Mutation_p.T1377I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1377					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCTCCACAGTGAACTTGTT	0.662																																						ENST00000422373.1																			0				breast(6)	6						c.(4129-4131)aCt>aTt		filamin A, alpha							179.0	191.0	187.0					X																	153587864		2012	4137	6149	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587864G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4130C>T	X.37:g.153587864G>A	ENSP00000358866:p.Thr1377Ile					FLNA_ENST00000344736.4_Missense_Mutation_p.T1377I|FLNA_ENST00000360319.4_Missense_Mutation_p.T1377I|FLNA_ENST00000369850.3_Missense_Mutation_p.T1377I	p.T1377I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			24	4378	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1377					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4130C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160003	0.78226	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.47	5.47	0.80525	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89347	0.6689	M	0.64080	1.96	0.80722	D	1	P;P	0.47762	0.717;0.9	P;P	0.53035	0.559;0.716	D	0.90451	0.4439	10	0.87932	D	0	.	18.4053	0.90533	0.0:0.0:1.0:0.0	.	1377;1377	P21333-2;P21333	.;FLNA_HUMAN	I	1377;1350;1377;1377;1377	ENSP00000353467:T1377I;ENSP00000416926:T1377I;ENSP00000358866:T1377I;ENSP00000358863:T1377I	ENSP00000358863:T1377I	T	-	2	0	FLNA	153241058	1.000000	0.71417	0.985000	0.45067	0.979000	0.70002	5.729000	0.68538	2.287000	0.76781	0.600000	0.82982	ACT		0.662	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			110	190	0	0	0	1	0	110	190				
ATG9B	285973	broad.mit.edu	37	7	150713794	150713794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150713794C>T	ENST00000377974.2	-	11	2477	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R287Q|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662																																						ENST00000377974.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2401-2403)cGa>cAa		autophagy related 9B							35.0	39.0	38.0					7																	150713794		692	1591	2283	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150713794C>T	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2402G>A	7.37:g.150713794C>T	ENSP00000475005:p.Arg801Gln					ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R287Q	p.R801Q			Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	2477	-	all_neural(206;0.219)		802					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2402G>A		.	.	.	.	.	.	.	.	.	.	C	14.12	2.441260	0.43326	.	.	ENSG00000248602	ENST00000377974;ENST00000444312	.	.	.	5.54	3.47	0.39725	.	0.544272	0.19726	N	0.107478	T	0.25754	0.0627	.	.	.	.	.	.	B	0.20671	0.047	B	0.15484	0.013	T	0.19192	-1.0313	7	0.15952	T	0.53	-17.2276	7.254	0.26166	0.1735:0.7294:0.0:0.0971	.	802	Q674R7	ATG9B_HUMAN	Q	801;287	.	ENSP00000444232:R801Q	R	-	2	0	AC010973.1	150344727	.	.	0.957000	0.39632	0.907000	0.53573	.	.	2.595000	0.87683	0.561000	0.74099	CGA		0.662	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		8	6	0	0	0	1	0	8	6				
NDC1	55706	broad.mit.edu	37	1	54266450	54266450	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54266450G>A	ENST00000371429.3	-	11	1736	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	NDC1_ENST00000537333.1_Silent_p.L45L|NDC1_ENST00000234725.8_Silent_p.L265L|NDC1_ENST00000540001.1_Silent_p.L380L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	380					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TAGAGAATCAGTTTCTGAGTC	0.418																																						ENST00000371429.3																			0											c.(1138-1140)Ctg>Ttg		NDC1 transmembrane nucleoporin							106.0	103.0	104.0					1																	54266450		2203	4300	6503	SO:0001819	synonymous_variant	55706							g.chr1:54266450G>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1138C>T	1.37:g.54266450G>A						NDC1_ENST00000540001.1_Silent_p.L380L|NDC1_ENST00000537333.1_Silent_p.L45L|NDC1_ENST00000234725.8_Silent_p.L265L	p.L380L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					11	1736	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	c.1138C>T	CCDS583.1																																																																																				0.418	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		30	38	0	0	0	1	0	30	38				
FEM1B	10116	broad.mit.edu	37	15	68583125	68583125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68583125C>A	ENST00000306917.4	+	2	2044	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	477					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCTGATTCACCTTGATCCCAG	0.433																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1429-1431)Ctt>Att		fem-1 homolog b (C. elegans)							165.0	148.0	154.0					15																	68583125		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583125C>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1429C>A	15.37:g.68583125C>A	ENSP00000307298:p.Leu477Ile						p.L477I	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	2044	+			477					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1429C>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336686	0.41398	.	.	ENSG00000169018	ENST00000306917	T	0.50813	0.73	5.95	5.95	0.96441	Ankyrin repeat-containing domain (2);	0.060753	0.64402	D	0.000002	T	0.60586	0.2280	M	0.68593	2.085	0.80722	D	1	D	0.65815	0.995	P	0.53006	0.715	T	0.55698	-0.8100	10	0.33940	T	0.23	-35.6263	19.3601	0.94434	0.0:1.0:0.0:0.0	.	477	Q9UK73	FEM1B_HUMAN	I	477	ENSP00000307298:L477I	ENSP00000307298:L477I	L	+	1	0	FEM1B	66370179	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.974000	0.56852	2.826000	0.97356	0.491000	0.48974	CTT		0.433	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			14	109	1	0	3.45872e-05	1	3.88335e-05	14	109				
TTN	7273	broad.mit.edu	37	2	179500846	179500846	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500846T>C	ENST00000591111.1	-	176	36753	c.36529A>G	c.(36529-36531)Att>Gtt	p.I12177V	TTN_ENST00000460472.2_Missense_Mutation_p.I4753V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I4878V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I11250V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I13818V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4945V|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12177	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACCACAATCTTGCCATCC	0.512																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41452-41454)Att>Gtt		titin							82.0	84.0	83.0					2																	179500846		2061	4192	6253	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500846T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36529A>G	2.37:g.179500846T>C	ENSP00000465570:p.Ile12177Val					TTN_ENST00000460472.2_Missense_Mutation_p.I4753V|TTN_ENST00000342992.6_Missense_Mutation_p.I11250V|TTN_ENST00000359218.5_Missense_Mutation_p.I4878V|TTN_ENST00000342175.6_Missense_Mutation_p.I4945V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I12177V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.I13818V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	41676	-			12177			Ig-like 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41452A>G		.	.	.	.	.	.	.	.	.	.	T	12.27	1.886969	0.33348	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	5.8	4.62	0.57501	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03220	0.0094	N	0.03324	-0.35	0.24558	N	0.993987	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.11329	0.006;0.006;0.006;0.006	T	0.42682	-0.9437	9	0.87932	D	0	.	12.9446	0.58365	0.0:0.0:0.1354:0.8646	.	4753;4878;4945;12177	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	11250;4753;4945;4878;4753	ENSP00000343764:I11250V;ENSP00000434586:I4753V;ENSP00000340554:I4945V;ENSP00000352154:I4878V	ENSP00000340554:I4945V	I	-	1	0	TTN	179209091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.485000	0.45250	0.994000	0.38892	0.477000	0.44152	ATT		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	48	0	0	0	1	0	4	48				
OR10Q1	219960	broad.mit.edu	37	11	57996253	57996253	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996253A>G	ENST00000316770.2	-	1	137	c.95T>C	c.(94-96)tTc>tCc	p.F32S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAAGAGAAGGAAGAGAAGAAC	0.522																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(94-96)tTc>tCc		olfactory receptor, family 10, subfamily Q, member 1							129.0	138.0	135.0					11																	57996253		2197	4292	6489	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996253A>G	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.95T>C	11.37:g.57996253A>G	ENSP00000314324:p.Phe32Ser						p.F32S	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	137	-		Breast(21;0.0589)	32					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.95T>C	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496936	0.64186	.	.	ENSG00000180475	ENST00000316770	T	0.04551	3.6	5.13	2.79	0.32731	.	0.000000	0.44902	D	0.000414	T	0.16981	0.0408	M	0.77313	2.365	0.27794	N	0.942732	D	0.89917	1.0	D	0.87578	0.998	T	0.02901	-1.1096	10	0.62326	D	0.03	.	6.2595	0.20891	0.7798:0.0:0.0784:0.1418	.	32	Q8NGQ4	O10Q1_HUMAN	S	32	ENSP00000314324:F32S	ENSP00000314324:F32S	F	-	2	0	OR10Q1	57752829	1.000000	0.71417	0.325000	0.25375	0.950000	0.60333	5.108000	0.64609	0.402000	0.25451	0.528000	0.53228	TTC		0.522	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	109	0	0	0	1	0	7	109				
KIAA0020	9933	broad.mit.edu	37	9	2828698	2828698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2828698C>T	ENST00000397885.2	-	9	1139	c.933G>A	c.(931-933)caG>caA	p.Q311Q	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	311	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAGTTAGAATCTGTTTCATTT	0.358																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(931-933)caG>caA		KIAA0020							168.0	157.0	161.0					9																	2828698		2201	4300	6501	SO:0001819	synonymous_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2828698C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.933G>A	9.37:g.2828698C>T						KIAA0020_ENST00000469168.1_5'UTR	p.Q311Q	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	9	1139	-			311			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	ENST00000397885.2	37	c.933G>A	CCDS6448.2																																																																																				0.358	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		15	37	0	0	0	1	0	15	37				
SLC27A5	10998	broad.mit.edu	37	19	59009910	59009910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009910G>T	ENST00000263093.2	-	10	2154	c.2045C>A	c.(2044-2046)gCt>gAt	p.A682D	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_Missense_Mutation_p.A87D|SLC27A5_ENST00000601355.1_Missense_Mutation_p.A598D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	682					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTCACACACAGCCTGGTACAT	0.607																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2044-2046)gCt>gAt		solute carrier family 27 (fatty acid transporter), member 5							93.0	84.0	87.0					19																	59009910		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59009910G>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.2045C>A	19.37:g.59009910G>T	ENSP00000263093:p.Ala682Asp					SLC27A5_ENST00000594786.1_Missense_Mutation_p.A87D|SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.A598D	p.A682D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	10	2154	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	682					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.2045C>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225648	0.39300	.	.	ENSG00000083807	ENST00000263093	T	0.54279	0.58	4.85	4.85	0.62838	.	0.593369	0.17184	N	0.183781	T	0.50990	0.1648	L	0.43152	1.355	0.30002	N	0.815918	P	0.40602	0.723	P	0.44946	0.465	T	0.50372	-0.8836	10	0.29301	T	0.29	-8.3028	13.8358	0.63408	0.0:0.0:1.0:0.0	.	682	Q9Y2P5	S27A5_HUMAN	D	682	ENSP00000263093:A682D	ENSP00000263093:A682D	A	-	2	0	SLC27A5	63701722	0.994000	0.37717	0.622000	0.29159	0.862000	0.49288	6.700000	0.74619	2.393000	0.81446	0.655000	0.94253	GCT		0.607	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		7	11	1	0	1.26484e-09	1	1.54084e-09	7	11				
EPPK1	83481	broad.mit.edu	37	8	144941327	144941327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941327C>T	ENST00000525985.1	-	2	6166	c.6095G>A	c.(6094-6096)aGa>aAa	p.R2032K				P58107	EPIPL_HUMAN	epiplakin 1	2032						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCCCCGTCTGTAGGCTGT	0.602																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6094-6096)aGa>aAa		epiplakin 1							59.0	65.0	63.0					8																	144941327		2117	4238	6355	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941327C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6095G>A	8.37:g.144941327C>T	ENSP00000436337:p.Arg2032Lys						p.R2032K			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6166	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2032					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6095G>A		.	.	.	.	.	.	.	.	.	.	C	13.93	2.383882	0.42308	.	.	ENSG00000227184	ENST00000525985	T	0.73897	-0.79	4.88	-5.43	0.02632	.	.	.	.	.	T	0.46795	0.1411	N	0.04686	-0.185	0.09310	N	1	B	0.22800	0.075	B	0.30105	0.111	T	0.47459	-0.9116	9	0.07325	T	0.83	.	9.3215	0.37966	0.1197:0.1529:0.0:0.7275	.	2032	E9PPU0	.	K	2032	ENSP00000436337:R2032K	ENSP00000436337:R2032K	R	-	2	0	EPPK1	145013315	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.059000	0.03479	-1.025000	0.03334	-0.237000	0.12165	AGA		0.602	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		20	21	0	0	0	1	0	20	21				
RTP5	285093	broad.mit.edu	37	2	242814298	242814298	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242814298G>T	ENST00000343216.3	+	2	619	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_173821.2	NP_776182.2																					ACCTTGGCAAGGGTGGCGTTG	0.677																																						ENST00000343216.3																			0											c.(589-591)aaG>aaT		CXXC finger protein 11							23.0	26.0	25.0					2																	242814298		2052	4183	6235	SO:0001583	missense	285093					integral to membrane		g.chr2:242814298G>T																												ENST00000343216.3:c.591G>T	2.37:g.242814298G>T	ENSP00000345374:p.Lys197Asn						p.K197N	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	619	+			197						Missense_Mutation	SNP	ENST00000343216.3	37	c.591G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238295	0.22711	.	.	ENSG00000188011	ENST00000343216	T	0.26810	1.71	2.88	-1.2	0.09554	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.19391	0.025	T	0.26643	-1.0097	9	0.48119	T	0.1	-1.1638	0.496	0.00572	0.3452:0.177:0.2976:0.1802	.	197	Q14D33	CB085_HUMAN	N	197	ENSP00000345374:K197N	ENSP00000345374:K197N	K	+	3	2	C2orf85	242462971	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-2.229000	0.01208	-0.281000	0.09141	0.394000	0.25966	AAG		0.677	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			3	18	1	0	0.004672	1	0.0049138	3	18				
PPP2CB	5516	broad.mit.edu	37	8	30655186	30655186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30655186A>G	ENST00000221138.4	-	3	847	c.397T>C	c.(397-399)Tgt>Cgt	p.C133R	PPP2CB_ENST00000520500.1_5'Flank|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	133					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TTTCGCAGACATTCATCATAA	0.378																																						ENST00000221138.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(397-399)Tgt>Cgt		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						102.0	94.0	97.0					8																	30655186		2203	4300	6503	SO:0001583	missense	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30655186A>G		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.397T>C	8.37:g.30655186A>G	ENSP00000221138:p.Cys133Arg					PPP2CB_ENST00000518564.1_Intron	p.C133R	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	3	847	-			133					D3DSV4|P11082|Q6FHK5	Missense_Mutation	SNP	ENST00000221138.4	37	c.397T>C	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360441	0.82353	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000518243;ENST00000520056	T;T;T	0.06528	3.29;3.29;3.29	5.15	5.15	0.70609	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	H	0.99993	5.385	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78650	-0.2121	10	0.87932	D	0	-0.0268	14.9426	0.71006	1.0:0.0:0.0:0.0	.	133	P62714	PP2AB_HUMAN	R	133;133;86;68	ENSP00000221138:C133R;ENSP00000428618:C86R;ENSP00000428866:C68R	ENSP00000221138:C133R	C	-	1	0	PPP2CB	30774728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.060000	0.61445	0.528000	0.53228	TGT		0.378	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		10	56	0	0	0	1	0	10	56				
TBX10	347853	broad.mit.edu	37	11	67402558	67402558	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67402558C>T	ENST00000335385.3	-	2	271	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	62					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ACTCTGGACACACGTGGGTTC	0.622																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(184-186)Gtg>Atg		T-box 10							52.0	50.0	50.0					11																	67402558		2200	4294	6494	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402558C>T	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.184G>A	11.37:g.67402558C>T	ENSP00000335191:p.Val62Met						p.V62M	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			2	271	-			62					Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.184G>A	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449301	0.63178	.	.	ENSG00000167800	ENST00000335385	D	0.87029	-2.2	4.55	4.55	0.56014	.	0.000000	0.52532	D	0.000080	D	0.89008	0.6593	L	0.27053	0.805	0.48901	D	0.999726	D	0.76494	0.999	D	0.75020	0.985	D	0.90515	0.4484	10	0.66056	D	0.02	.	16.2283	0.82315	0.0:1.0:0.0:0.0	.	62	O75333	TBX10_HUMAN	M	62	ENSP00000335191:V62M	ENSP00000335191:V62M	V	-	1	0	TBX10	67159134	1.000000	0.71417	0.934000	0.37439	0.620000	0.37586	5.288000	0.65651	2.366000	0.80165	0.462000	0.41574	GTG		0.622	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		24	31	0	0	0	1	0	24	31				
OPRL1	4987	broad.mit.edu	37	20	62729242	62729242	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62729242G>T	ENST00000349451.3	+	5	733	c.321G>T	c.(319-321)caG>caT	p.Q107H	OPRL1_ENST00000336866.2_Missense_Mutation_p.Q107H|OPRL1_ENST00000355631.4_Missense_Mutation_p.Q107H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	107					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTTCCAGGGCACGGACA	0.547																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(319-321)caG>caT		opiate receptor-like 1							146.0	137.0	140.0					20																	62729242		2203	4300	6503	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729242G>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.321G>T	20.37:g.62729242G>T	ENSP00000336764:p.Gln107His					OPRL1_ENST00000336866.2_Missense_Mutation_p.Q107H|OPRL1_ENST00000355631.4_Missense_Mutation_p.Q107H	p.Q107H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			5	733	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		107					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.321G>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849542	0.71603	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.19669	2.13;2.13;2.13	4.75	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.122641	0.56097	D	0.000023	T	0.43722	0.1260	M	0.81942	2.565	0.58432	D	0.999997	D;D	0.76494	0.997;0.999	D;D	0.87578	0.995;0.998	T	0.39881	-0.9592	10	0.72032	D	0.01	.	7.8081	0.29215	0.2416:0.0:0.7584:0.0	.	102;107	P41146-2;P41146	.;OPRX_HUMAN	H	107	ENSP00000336843:Q107H;ENSP00000347848:Q107H;ENSP00000336764:Q107H	ENSP00000336843:Q107H	Q	+	3	2	OPRL1	62199686	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.400000	0.52594	2.374000	0.81015	0.551000	0.68910	CAG		0.547	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		48	57	1	0	2.43468e-25	1	3.2359e-25	48	57				
RETSAT	54884	broad.mit.edu	37	2	85577194	85577194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85577194C>A	ENST00000295802.4	-	4	880	c.768G>T	c.(766-768)caG>caT	p.Q256H	RETSAT_ENST00000457495.2_Missense_Mutation_p.Q195H|RETSAT_ENST00000263854.6_Missense_Mutation_p.Q256H	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	256					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGAGTACTGCCTGGAGCTCAG	0.597																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(766-768)caG>caT		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						50.0	52.0	51.0					2																	85577194		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85577194C>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.768G>T	2.37:g.85577194C>A	ENSP00000295802:p.Gln256His					RETSAT_ENST00000457495.2_Missense_Mutation_p.Q195H|RETSAT_ENST00000263854.6_Missense_Mutation_p.Q256H	p.Q256H	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			4	880	-			256					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.768G>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.27|13.27	2.186302|2.186302	0.38609|0.38609	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000409984	T;T;T|.	0.59224|.	0.28;0.28;0.28|.	5.82|5.82	2.58|2.58	0.30949|0.30949	.|.	0.251060|.	0.40385|.	N|.	0.001107|.	T|T	0.55289|0.55289	0.1911|0.1911	M|M	0.64170|0.64170	1.965|1.965	0.33640|0.33640	D|D	0.607104|0.607104	B;B|.	0.19583|.	0.037;0.012|.	B;B|.	0.26202|.	0.067;0.014|.	T|T	0.63111|0.63111	-0.6710|-0.6710	10|5	0.41790|.	T|.	0.15|.	-6.9533|-6.9533	7.9079|7.9079	0.29774|0.29774	0.1359:0.7015:0.0:0.1626|0.1359:0.7015:0.0:0.1626	.|.	195;256|.	G5E9N3;Q6NUM9|.	.;RETST_HUMAN|.	H|M	256;256;195|195	ENSP00000295802:Q256H;ENSP00000263854:Q256H;ENSP00000405040:Q195H|.	ENSP00000263854:Q256H|.	Q|R	-|-	3|2	2|0	RETSAT|RETSAT	85430705|85430705	0.815000|0.815000	0.29118|0.29118	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	0.184000|0.184000	0.16939|0.16939	0.782000|0.782000	0.33613|0.33613	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.597	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		22	40	1	0	6.44725e-10	1	7.89499e-10	22	40				
CREBBP	1387	broad.mit.edu	37	16	3817888	3817888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3817888C>T	ENST00000262367.5	-	16	3892	c.3083G>A	c.(3082-3084)gGa>gAa	p.G1028E	CREBBP_ENST00000382070.3_Missense_Mutation_p.G990E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1028					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGGAAGCTCCTTGCAAATC	0.383			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3082-3084)gGa>gAa		CREB binding protein							210.0	197.0	201.0					16																	3817888		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817888C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3083G>A	16.37:g.3817888C>T	ENSP00000262367:p.Gly1028Glu					CREBBP_ENST00000382070.3_Missense_Mutation_p.G990E	p.G1028E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	3892	-		Ovarian(90;0.0266)	1028					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3083G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024652	0.35701	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82711	-1.64;-1.57	5.54	4.59	0.56863	.	0.162708	0.43416	D	0.000569	T	0.66327	0.2778	N	0.14661	0.345	0.40058	D	0.975864	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.59537	-0.7436	10	0.11794	T	0.64	-8.9662	10.0637	0.42290	0.0:0.7906:0.1374:0.072	.	1058;1028	Q4LE28;Q92793	.;CBP_HUMAN	E	1028;1058;990	ENSP00000262367:G1028E;ENSP00000371502:G990E	ENSP00000262367:G1028E	G	-	2	0	CREBBP	3757889	0.711000	0.27906	1.000000	0.80357	0.969000	0.65631	1.223000	0.32527	1.475000	0.48197	0.655000	0.94253	GGA		0.383	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		47	88	0	0	0	1	0	47	88				
SSTR2	6752	broad.mit.edu	37	17	71165681	71165681	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71165681A>C	ENST00000357585.2	+	2	592	c.223A>C	c.(223-225)Aag>Cag	p.K75Q	SSTR2_ENST00000315332.2_Missense_Mutation_p.K75Q|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	75					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCCAAGATGAAGACCATCAC	0.483																																						ENST00000357585.2																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(223-225)Aag>Cag		somatostatin receptor 2							250.0	201.0	218.0					17																	71165681		2203	4300	6503	SO:0001583	missense	0				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71165681A>C		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.223A>C	17.37:g.71165681A>C	ENSP00000350198:p.Lys75Gln					SSTR2_ENST00000315332.2_Missense_Mutation_p.K75Q|RP11-143K11.5_ENST00000580671.1_RNA	p.K75Q	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	592	+			75					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.223A>C	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259835	0.80246	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.38077	1.16;1.16	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.59912	1.85	0.80722	D	1	D	0.55385	0.971	P	0.61328	0.887	T	0.56631	-0.7947	10	0.72032	D	0.01	.	15.7807	0.78257	1.0:0.0:0.0:0.0	.	75	P30874	SSR2_HUMAN	Q	75	ENSP00000350198:K75Q;ENSP00000326616:K75Q	ENSP00000326616:K75Q	K	+	1	0	SSTR2	68677276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.335000	0.96500	2.204000	0.70986	0.528000	0.53228	AAG		0.483	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			10	54	0	0	0	1	0	10	54				
FBN2	2201	broad.mit.edu	37	5	127680187	127680187	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127680187T>C	ENST00000508053.1	-	31	4207	c.3233A>G	c.(3232-3234)aAa>aGa	p.K1078R	FBN2_ENST00000262464.4_Missense_Mutation_p.K1078R|FBN2_ENST00000508989.1_Missense_Mutation_p.K1045R			P35556	FBN2_HUMAN	fibrillin 2	1078	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGAAATGCTTTGCATTCATT	0.398																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3232-3234)aAa>aGa		fibrillin 2							106.0	103.0	104.0					5																	127680187		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127680187T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3233A>G	5.37:g.127680187T>C	ENSP00000424571:p.Lys1078Arg					FBN2_ENST00000508989.1_Missense_Mutation_p.K1045R|FBN2_ENST00000262464.4_Missense_Mutation_p.K1078R	p.K1078R			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	31	4207	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1078			EGF-like 15; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3233A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	9.964	1.223491	0.22457	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91894	-2.93;-2.93;-2.93	4.3	4.3	0.51218	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	D	0.90570	0.7044	N	0.16368	0.405	0.38382	D	0.945152	P;B	0.52316	0.952;0.003	P;B	0.60012	0.867;0.006	D	0.90361	0.4373	10	0.30854	T	0.27	.	14.5194	0.67840	0.0:0.0:0.0:1.0	.	1045;1078	D6RJI3;P35556	.;FBN2_HUMAN	R	1078;1078;1045	ENSP00000262464:K1078R;ENSP00000424571:K1078R;ENSP00000425596:K1045R	ENSP00000262464:K1078R	K	-	2	0	FBN2	127708086	1.000000	0.71417	0.996000	0.52242	0.003000	0.03518	3.332000	0.52083	2.178000	0.69098	0.454000	0.30748	AAA		0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		15	86	0	0	0	1	0	15	86				
SLFN12L	100506736	broad.mit.edu	37	17	33802201	33802201	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33802201A>C	ENST00000260908.7	-	4	1625	c.1508T>G	c.(1507-1509)aTt>aGt	p.I503S	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.I534S|SLFN12L_ENST00000361112.4_Missense_Mutation_p.I532S	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	503						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTAACCACCAATTTTTGCCAG	0.403																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(1507-1509)aTt>aGt		schlafen family member 12-like							181.0	136.0	150.0					17																	33802201		692	1591	2283	SO:0001583	missense	100506736					integral to membrane	ATP binding	g.chr17:33802201A>C	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1508T>G	17.37:g.33802201A>C	ENSP00000437635:p.Ile503Ser					SLFN12L_ENST00000449046.1_Missense_Mutation_p.I534S|SLFN12L_ENST00000361112.4_Missense_Mutation_p.I532S	p.I503S	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			4	1625	-			535					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.1508T>G	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022375	0.35701	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.03745	3.84;3.94;3.82	2.37	-3.85	0.04243	.	.	.	.	.	T	0.03305	0.0096	L	0.59436	1.845	0.09310	N	1	B	0.27656	0.184	B	0.16722	0.016	T	0.42548	-0.9445	9	0.59425	D	0.04	.	0.4665	0.00525	0.2608:0.2009:0.3206:0.2177	.	532	Q6IEE8-2	.	S	503;532;534	ENSP00000437635:I503S;ENSP00000354412:I532S;ENSP00000389348:I534S	ENSP00000437635:I503S	I	-	2	0	SLFN12L	30826314	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-2.025000	0.01435	-0.803000	0.04415	0.164000	0.16699	ATT		0.403	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		24	53	0	0	0	1	0	24	53				
ARHGEF11	9826	broad.mit.edu	37	1	157014177	157014177	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157014177G>T	ENST00000361409.2	-	0	688				ARHGEF11_ENST00000368194.3_De_novo_Start_OutOfFrame	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCTTGATCAGGATTGAATCG	0.473																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81								Rho guanine nucleotide exchange factor (GEF) 11							186.0	156.0	165.0					1																	157014177		692	1591	2283			9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:157014177G>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.-55C>A	1.37:g.157014177G>T						ARHGEF11_ENST00000361409.2_De_novo_Start_OutOfFrame		NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			0	985	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							D3DVD0|Q5VY40|Q6PFW2	Translation_Start_Site	SNP	ENST00000361409.2	37		CCDS1162.1																																																																																				0.473	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		16	137	1	0	3.52763e-06	1	4.04633e-06	16	137				
COPB2	9276	broad.mit.edu	37	3	139090653	139090653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139090653C>A	ENST00000333188.5	-	10	1298	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	COPB2_ENST00000507777.1_Missense_Mutation_p.G344W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	373					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATATACTCCCCATCACCACAC	0.433																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1117-1119)Ggg>Tgg		coatomer protein complex, subunit beta 2 (beta prime)							152.0	133.0	139.0					3																	139090653		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139090653C>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1117G>T	3.37:g.139090653C>A	ENSP00000329419:p.Gly373Trp					COPB2_ENST00000507777.1_Missense_Mutation_p.G344W	p.G373W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			10	1298	-			373					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1117G>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968094	0.92855	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.19532	2.22;2.14	5.68	5.68	0.88126	WD40 repeat-like-containing domain (1);Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75531	-0.3285	10	0.87932	D	0	-18.0919	19.7834	0.96426	0.0:1.0:0.0:0.0	.	373	P35606	COPB2_HUMAN	W	373;344	ENSP00000329419:G373W;ENSP00000422295:G344W	ENSP00000329419:G373W	G	-	1	0	COPB2	140573343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.682000	0.91365	0.561000	0.74099	GGG		0.433	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		18	33	1	0	1.00905e-13	1	1.28195e-13	18	33				
HERC2P9	440248	broad.mit.edu	37	15	28929371	28929371	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28929371G>T	ENST00000528584.1	+	0	1908					NR_036443.1				hect domain and RLD 2 pseudogene 9																		GGAAGGAAAAGGCACACGCTG	0.453																																						ENST00000528584.1																			0																																																			0							g.chr15:28929371G>T	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929371G>T								NR_036443.1						0	1908	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.453	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	37	1	0	1	1	1	4	37				
NRAP	4892	broad.mit.edu	37	10	115401192	115401192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115401192G>A	ENST00000359988.3	-	13	1499	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NRAP_ENST00000369360.3_Missense_Mutation_p.R384C|NRAP_ENST00000360478.3_Missense_Mutation_p.R384C|NRAP_ENST00000369358.4_Missense_Mutation_p.R419C	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTTCATAGCGGCCTCTCATG	0.438																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1255-1257)Cgc>Tgc		nebulin-related anchoring protein							174.0	156.0	162.0					10																	115401192		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115401192G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1255C>T	10.37:g.115401192G>A	ENSP00000353078:p.Arg419Cys					NRAP_ENST00000360478.3_Missense_Mutation_p.R384C|NRAP_ENST00000359988.3_Missense_Mutation_p.R419C|NRAP_ENST00000369360.3_Missense_Mutation_p.R384C	p.R419C			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	13	1499	-		Colorectal(252;0.0233)|Breast(234;0.188)	419						Missense_Mutation	SNP	ENST00000359988.3	37	c.1255C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837291	0.91117	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.16897	2.49;2.48;2.41;2.31	5.49	5.49	0.81192	.	0.302649	0.40908	D	0.000983	T	0.18593	0.0446	N	0.19112	0.55	0.43334	D	0.995376	D;D;P	0.59357	0.975;0.985;0.918	P;P;B	0.47162	0.453;0.54;0.339	T	0.01496	-1.1340	10	0.72032	D	0.01	.	19.3762	0.94510	0.0:0.0:1.0:0.0	.	419;384;419	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	C	419;384;419;384;148;148	ENSP00000358365:R419C;ENSP00000358367:R384C;ENSP00000353078:R419C;ENSP00000353666:R384C	ENSP00000353078:R419C	R	-	1	0	NRAP	115391182	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.819000	0.91997	2.591000	0.87537	0.561000	0.74099	CGC		0.438	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		16	46	0	0	0	1	0	16	46				
IGLV2-18	28814	broad.mit.edu	37	22	23077525	23077525	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23077525C>A	ENST00000390310.2	+	0	315				D87007.1_ENST00000579613.1_RNA					immunoglobulin lambda variable 2-18																		GGGCTCCAGGCTGAGGACGAG	0.547																																						ENST00000390310.2																			0																				97.0	100.0	99.0					22																	23077525		1873	4098	5971			0							g.chr22:23077525C>A	Z73642		22q11.2	2012-02-08			ENSG00000211664	ENSG00000211664		"""Immunoglobulins / IGL locus"""	5889	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151232		22.37:g.23077525C>A														0	315	+									RNA	SNP	ENST00000390310.2	37																																																																																						0.547	IGLV2-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321836.1	NG_000002		45	95	1	0	5.34276e-22	1	7.04553e-22	45	95				
C6orf10	10665	broad.mit.edu	37	6	32261804	32261804	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32261804T>C	ENST00000447241.2	-	23	818	c.646A>G	c.(646-648)Aca>Gca	p.T216A	C6orf10_ENST00000375015.4_Missense_Mutation_p.T215A|C6orf10_ENST00000533191.1_Missense_Mutation_p.T214A|C6orf10_ENST00000527965.1_Missense_Mutation_p.T200A|C6orf10_ENST00000375007.4_Missense_Mutation_p.T214A|C6orf10_ENST00000442822.2_Missense_Mutation_p.T207A	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	216						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATGTAACCTGTTAATATAACT	0.343																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(643-645)Aca>Gca		chromosome 6 open reading frame 10							78.0	95.0	89.0					6																	32261804		1508	2708	4216	SO:0001583	missense	10665					integral to membrane		g.chr6:32261804T>C	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.646A>G	6.37:g.32261804T>C	ENSP00000415517:p.Thr216Ala					C6orf10_ENST00000527965.1_Missense_Mutation_p.T200A|C6orf10_ENST00000533191.1_Missense_Mutation_p.T214A|C6orf10_ENST00000375007.4_Missense_Mutation_p.T214A|C6orf10_ENST00000442822.2_Missense_Mutation_p.T207A|C6orf10_ENST00000447241.2_Missense_Mutation_p.T216A	p.T215A			Q5SRN2	CF010_HUMAN			26	843	-			216					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.643A>G	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	5.174	0.217744	0.09810	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.03831	3.8;3.8;3.85;3.8;3.85;3.79	3.85	2.04	0.26737	.	.	.	.	.	T	0.01254	0.0041	L	0.44542	1.39	0.23168	N	0.998182	B	0.18013	0.025	B	0.11329	0.006	T	0.47302	-0.9128	9	0.22109	T	0.4	-12.336	4.7696	0.13150	0.113:0.0:0.6707:0.2163	.	216	Q5SRN2	CF010_HUMAN	A	207;216;215;214;200;214;215;213	ENSP00000411164:T207A;ENSP00000415517:T216A;ENSP00000364155:T215A;ENSP00000431199:T214A;ENSP00000435103:T200A;ENSP00000364146:T214A	ENSP00000303292:T213A	T	-	1	0	C6orf10	32369782	1.000000	0.71417	0.993000	0.49108	0.043000	0.13939	1.446000	0.35090	0.586000	0.29626	-0.294000	0.09567	ACA		0.343	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		8	84	0	0	0	1	0	8	84				
KIAA1549	57670	broad.mit.edu	37	7	138588381	138588381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138588381G>A	ENST00000422774.1	-	8	3670	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1208W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1158W			Q9HCM3	K1549_HUMAN	KIAA1549	1208						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCCACATCCGCCTTCTGGTG	0.572			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3622-3624)Cgg>Tgg		KIAA1549							65.0	68.0	67.0					7																	138588381		2047	4189	6236	SO:0001583	missense	57670					integral to membrane		g.chr7:138588381G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3622C>T	7.37:g.138588381G>A	ENSP00000416040:p.Arg1208Trp					KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1208W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1158W	p.R1208W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			8	3670	-			1208					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3622C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590564	0.66219	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.33654	1.4;1.4;1.4	4.61	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63260	-0.6677	10	0.87932	D	0	.	12.7998	0.57580	0.0:0.0:0.7251:0.2749	.	1208;1208	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	W	1208;1158;1208	ENSP00000406661:R1208W;ENSP00000242365:R1158W;ENSP00000416040:R1208W	ENSP00000242365:R1158W	R	-	1	2	KIAA1549	138238921	1.000000	0.71417	0.668000	0.29813	0.748000	0.42578	3.562000	0.53777	2.393000	0.81446	0.591000	0.81541	CGG		0.572	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			16	11	0	0	0	1	0	16	11				
FAM184A	79632	broad.mit.edu	37	6	119295646	119295646	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119295646A>C	ENST00000338891.7	-	14	3305	c.2862T>G	c.(2860-2862)gaT>gaG	p.D954E	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	954						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTATTAAAATCTGCCCGCA	0.343																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2860-2862)gaT>gaG		family with sequence similarity 184, member A							241.0	228.0	232.0					6																	119295646		1809	4082	5891	SO:0001583	missense	79632							g.chr6:119295646A>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2862T>G	6.37:g.119295646A>C	ENSP00000342604:p.Asp954Glu					FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA	p.D954E	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			14	3305	-			954					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2862T>G	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.930875	0.34096	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000368472	T;T	0.52057	2.36;0.68	5.3	5.3	0.74995	.	0.049944	0.85682	D	0.000000	T	0.20210	0.0486	L	0.51914	1.62	0.80722	D	1	B	0.24043	0.096	B	0.22152	0.038	T	0.06006	-1.0851	10	0.07325	T	0.83	-19.5444	10.7349	0.46120	0.8579:0.0:0.0:0.1421	.	954	Q8NB25	F184A_HUMAN	E	117;954;15	ENSP00000342604:D954E;ENSP00000357457:D15E	ENSP00000342604:D954E	D	-	3	2	FAM184A	119337345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.567000	0.45956	2.140000	0.66376	0.477000	0.44152	GAT		0.343	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		90	137	0	0	0	1	0	90	137				
HTR3C	170572	broad.mit.edu	37	3	183774017	183774017	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774017A>T	ENST00000318351.1	+	4	366	c.332A>T	c.(331-333)aAt>aTt	p.N111I		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	111					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GTTGGCATCAATAAACTCACA	0.502																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(331-333)aAt>aTt		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							166.0	161.0	163.0					3																	183774017		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183774017A>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.332A>T	3.37:g.183774017A>T	ENSP00000322617:p.Asn111Ile						p.N111I	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	366	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		111					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.332A>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.747569	0.49257	.	.	ENSG00000178084	ENST00000318351	T	0.79653	-1.29	4.68	-2.79	0.05841	Neurotransmitter-gated ion-channel ligand-binding (3);	1.632360	0.03199	N	0.174498	T	0.74038	0.3664	L	0.54323	1.7	0.09310	N	1	B	0.27951	0.195	B	0.34242	0.178	T	0.56074	-0.8039	10	0.44086	T	0.13	2.1715	0.44	0.00484	0.4187:0.1405:0.168:0.2728	.	111	Q8WXA8	5HT3C_HUMAN	I	111	ENSP00000322617:N111I	ENSP00000322617:N111I	N	+	2	0	HTR3C	185256711	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	-0.171000	0.09883	-0.244000	0.09639	0.529000	0.55759	AAT		0.502	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		8	84	0	0	0	1	0	8	84				
ETV6	2120	broad.mit.edu	37	12	12038938	12038938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12038938C>T	ENST00000396373.4	+	7	1505	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	411					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGAAGGAGCCAGGACAAAG	0.448			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1231-1233)Cca>Tca		ets variant 6							126.0	124.0	125.0					12																	12038938		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12038938C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1231C>T	12.37:g.12038938C>T	ENSP00000379658:p.Pro411Ser						p.P411S	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			7	1505	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	411					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1231C>T	CCDS8643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150321|2.150321	0.37923|0.37923	.|.	.|.	ENSG00000139083|ENSG00000139083	ENST00000266427|ENST00000396373	.|D	.|0.88431	.|-2.38	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91260|0.91260	0.7245|0.7245	L|L	0.33093|0.33093	0.98|0.98	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.79784	.|0.993	D|D	0.90733|0.90733	0.4644|0.4644	5|10	.|0.38643	.|T	.|0.18	.|.	18.1486|18.1486	0.89667|0.89667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|411	.|P41212	.|ETV6_HUMAN	V|S	23|411	.|ENSP00000379658:P411S	.|ENSP00000379658:P411S	A|P	+|+	2|1	0|0	ETV6|ETV6	11930205|11930205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	4.806000|4.806000	0.62569|0.62569	2.460000|2.460000	0.83146|0.83146	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.448	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		48	76	0	0	0	1	0	48	76				
KCNS3	3790	broad.mit.edu	37	2	18112667	18112667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18112667A>G	ENST00000403915.1	+	3	843	c.392A>G	c.(391-393)aAg>aGg	p.K131R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.K131R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	131					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCACGAGAAGGACTGGGAC	0.493																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(391-393)aAg>aGg		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							110.0	112.0	112.0					2																	18112667		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112667A>G	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.392A>G	2.37:g.18112667A>G	ENSP00000385968:p.Lys131Arg					KCNS3_ENST00000304101.4_Missense_Mutation_p.K131R|KCNS3_ENST00000465292.1_Intron	p.K131R			Q9BQ31	KCNS3_HUMAN			3	843	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		131					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.392A>G	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	A	4.197	0.035342	0.08148	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97016	-4.21;-4.21	6.07	2.45	0.29901	BTB/POZ fold (1);	0.633028	0.16695	N	0.203400	D	0.90628	0.7061	L	0.29908	0.895	0.27975	N	0.936256	B	0.02656	0.0	B	0.01281	0.0	T	0.76402	-0.2972	10	0.07813	T	0.8	.	9.5798	0.39481	0.8038:0.0:0.1962:0.0	.	131	Q9BQ31	KCNS3_HUMAN	R	131	ENSP00000385968:K131R;ENSP00000305824:K131R	ENSP00000305824:K131R	K	+	2	0	KCNS3	17976148	0.997000	0.39634	0.724000	0.30704	0.959000	0.62525	1.813000	0.38962	0.192000	0.20272	0.533000	0.62120	AAG		0.493	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		3	48	0	0	0	1	0	3	48				
CLEC1A	51267	broad.mit.edu	37	12	10228126	10228126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10228126T>A	ENST00000315330.4	-	4	582	c.520A>T	c.(520-522)Aag>Tag	p.K174*	CLEC1A_ENST00000457018.2_Nonsense_Mutation_p.K141*|CLEC1A_ENST00000420265.2_Nonsense_Mutation_p.K82*	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TTGTTTATCTTCAGCATGGTA	0.378																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(520-522)Aag>Tag		C-type lectin domain family 1, member A							128.0	126.0	127.0					12																	10228126		2203	4300	6503	SO:0001587	stop_gained	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10228126T>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.520A>T	12.37:g.10228126T>A	ENSP00000326407:p.Lys174*					CLEC1A_ENST00000420265.2_Nonsense_Mutation_p.K82*|CLEC1A_ENST00000457018.2_Nonsense_Mutation_p.K141*	p.K174*	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			4	582	-			174			C-type lectin.		Q8IUW7|Q9NZH3	Nonsense_Mutation	SNP	ENST00000315330.4	37	c.520A>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699597	0.88830	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	.	.	.	5.06	5.06	0.68205	.	0.103397	0.43416	D	0.000576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5034	0.50451	0.0:0.0:0.0:1.0	.	.	.	.	X	174;141;82	.	ENSP00000326407:K174X	K	-	1	0	CLEC1A	10119393	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.752000	0.55172	2.040000	0.60383	0.533000	0.62120	AAG		0.378	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		33	66	0	0	0	1	0	33	66				
NAP1L4	4676	broad.mit.edu	37	11	2981014	2981014	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2981014A>C	ENST00000380542.4	-	9	872	c.732T>G	c.(730-732)atT>atG	p.I244M	NAP1L4_ENST00000526115.1_Missense_Mutation_p.I244M	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	244					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CACAGTCCACAATCTCAGGAC	0.373																																						ENST00000380542.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.(730-732)atT>atG		nucleosome assembly protein 1-like 4							133.0	120.0	124.0					11																	2981014		1849	4086	5935	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2981014A>C	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.732T>G	11.37:g.2981014A>C	ENSP00000369915:p.Ile244Met					NAP1L4_ENST00000526115.1_Missense_Mutation_p.I244M	p.I244M	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	9	872	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	244					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.732T>G	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559947	0.45590	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000532325;ENST00000448187	T;T;T	0.47528	0.84;0.84;0.84	4.73	-7.01	0.01594	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.92970	3.365	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72357	-0.4318	10	0.87932	D	0	-20.8605	9.2702	0.37666	0.6285:0.0:0.2167:0.1548	.	244;244	F5HFY4;Q99733	.;NP1L4_HUMAN	M	244;244;244;129;256	ENSP00000369915:I244M;ENSP00000436397:I244M;ENSP00000387783:I256M	ENSP00000369915:I244M	I	-	3	3	NAP1L4	2937590	0.017000	0.18338	0.583000	0.28640	0.531000	0.34715	-1.320000	0.02700	-1.427000	0.01992	-0.321000	0.08615	ATT		0.373	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		18	46	0	0	0	1	0	18	46				
ZNF439	90594	broad.mit.edu	37	19	11979032	11979032	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11979032A>G	ENST00000304030.2	+	3	1348	c.1148A>G	c.(1147-1149)aAa>aGa	p.K383R	ZNF439_ENST00000455282.1_Missense_Mutation_p.K247R|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAACCGTATAAATGCAAGCAA	0.418																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(1147-1149)aAa>aGa		zinc finger protein 439							58.0	57.0	57.0					19																	11979032		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11979032A>G	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1148A>G	19.37:g.11979032A>G	ENSP00000305077:p.Lys383Arg					ZNF439_ENST00000455282.1_Missense_Mutation_p.K247R|ZNF439_ENST00000592534.1_Intron	p.K383R	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	1348	+			383					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.1148A>G	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	a	7.025	0.559560	0.13436	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.19938	2.11;2.11	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17534	0.0421	L	0.56396	1.775	0.09310	N	1	P	0.42409	0.779	B	0.39094	0.29	T	0.23868	-1.0176	9	0.87932	D	0	.	2.0897	0.03654	0.3954:0.3439:0.2607:0.0	.	383	Q8NDP4	ZN439_HUMAN	R	247;383	ENSP00000395632:K247R;ENSP00000305077:K383R	ENSP00000305077:K383R	K	+	2	0	ZNF439	11840032	0.000000	0.05858	0.063000	0.19743	0.030000	0.12068	-0.127000	0.10547	0.485000	0.27652	0.163000	0.16589	AAA		0.418	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			5	50	0	0	0	1	0	5	50				
UGGT1	56886	broad.mit.edu	37	2	128900742	128900742	+	Silent	SNP	G	G	A	rs548464056		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128900742G>A	ENST00000259253.6	+	17	1841	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	UGGT1_ENST00000375990.3_Silent_p.P574P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	598					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAATATCCGTATGTAGAAG	0.353																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1720-1722)ccG>ccA		UDP-glucose glycoprotein glucosyltransferase 1							183.0	177.0	179.0					2																	128900742		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128900742G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1794G>A	2.37:g.128900742G>A						UGGT1_ENST00000259253.6_Silent_p.P598P	p.P574P			Q9NYU2	UGGG1_HUMAN			17	2125	+			598					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.1722G>A	CCDS2154.1																																																																																				0.353	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		41	59	0	0	0	1	0	41	59				
USP26	83844	broad.mit.edu	37	X	132160551	132160551	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132160551T>C	ENST00000511190.1	-	6	2167	c.1698A>G	c.(1696-1698)gaA>gaG	p.E566E	USP26_ENST00000370832.1_Silent_p.E566E|USP26_ENST00000406273.1_Silent_p.E566E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	566	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AATCTGTAATTTCTCCATCCT	0.393																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1696-1698)gaA>gaG		ubiquitin specific peptidase 26							71.0	69.0	70.0					X																	132160551		2203	4299	6502	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160551T>C	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1698A>G	X.37:g.132160551T>C						USP26_ENST00000406273.1_Silent_p.E566E|USP26_ENST00000370832.1_Silent_p.E566E	p.E566E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2167	-	Acute lymphoblastic leukemia(192;0.000127)		566					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.1698A>G	CCDS14635.1																																																																																				0.393	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		6	92	0	0	0	1	0	6	92				
CDH2	1000	broad.mit.edu	37	18	25572622	25572622	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25572622G>A	ENST00000269141.3	-	9	1764	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V	CDH2_ENST00000399380.3_Silent_p.V416V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	447	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTACTTTGACCACGGTGA	0.527																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1339-1341)gtC>gtT		cadherin 2, type 1, N-cadherin (neuronal)							142.0	122.0	129.0					18																	25572622		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572622G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1341C>T	18.37:g.25572622G>A						CDH2_ENST00000399380.3_Silent_p.V416V	p.V447V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1764	-			447			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.1341C>T	CCDS11891.1																																																																																				0.527	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		6	45	0	0	0	1	0	6	45				
CCDC180	100499483	broad.mit.edu	37	9	100088895	100088895	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100088895A>C	ENST00000357054.1	+	29	3089	c.2154A>C	c.(2152-2154)gaA>gaC	p.E718D	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.E576D|CCDC180_ENST00000529487.1_Missense_Mutation_p.E579D|CCDC180_ENST00000375202.2_Missense_Mutation_p.E579D|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	718						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTGACAAAGAAACACTGGCGT	0.512																																						ENST00000375202.2																			0											c.(1735-1737)gaA>gaC		coiled-coil domain containing 180							182.0	166.0	172.0					9																	100088895		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100088895A>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2154A>C	9.37:g.100088895A>C	ENSP00000349562:p.Glu718Asp					CCDC180_ENST00000411667.2_Missense_Mutation_p.E576D|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E579D|CCDC180_ENST00000357054.1_Missense_Mutation_p.E718D|CCDC180_ENST00000460482.2_3'UTR	p.E579D							29	3089	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1737A>C		.	.	.	.	.	.	.	.	.	.	A	11.53	1.664963	0.29604	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.69	-0.615	0.11587	.	0.670364	0.14508	N	0.315262	T	0.17066	0.0410	L	0.56769	1.78	0.09310	N	1	P;B;B;B	0.38677	0.642;0.008;0.129;0.008	B;B;B;B	0.35278	0.199;0.015;0.067;0.025	T	0.12837	-1.0532	10	0.33141	T	0.24	-1.3469	0.5423	0.00647	0.448:0.168:0.2056:0.1784	.	576;718;579;718	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	D	718;579;576;602;579	ENSP00000349562:E718D;ENSP00000364348:E579D;ENSP00000414000:E576D;ENSP00000434727:E579D	ENSP00000349562:E718D	E	+	3	2	C9orf174	99128716	0.005000	0.15991	0.000000	0.03702	0.363000	0.29612	-0.122000	0.10627	-0.175000	0.10725	0.533000	0.62120	GAA		0.512	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		12	157	0	0	0	1	0	12	157				
PPAPDC1B	84513	broad.mit.edu	37	8	38124795	38124795	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38124795T>C	ENST00000424479.2	-	5	473	c.453A>G	c.(451-453)ggA>ggG	p.G151G	PPAPDC1B_ENST00000419686.2_Silent_p.G151G|PPAPDC1B_ENST00000422581.2_Silent_p.G151G|PPAPDC1B_ENST00000531823.1_Silent_p.G19G|PPAPDC1B_ENST00000530588.1_5'Flank|PPAPDC1B_ENST00000529359.1_Silent_p.G110G	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	151	Phosphatase sequence motif II.				phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGAAGAATGTCCACTGGGGA	0.453																																						ENST00000529359.1																			0				kidney(1)|lung(1)	2						c.(328-330)ggA>ggG		phosphatidic acid phosphatase type 2 domain containing 1B							106.0	101.0	103.0					8																	38124795		1933	4126	6059	SO:0001819	synonymous_variant	84513				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity	g.chr8:38124795T>C	AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.453A>G	8.37:g.38124795T>C						PPAPDC1B_ENST00000531823.1_Silent_p.G19G|PPAPDC1B_ENST00000422581.2_Silent_p.G151G|PPAPDC1B_ENST00000419686.2_Silent_p.G151G|PPAPDC1B_ENST00000424479.2_Silent_p.G151G	p.G110G			Q8NEB5	PPC1B_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)		4	528	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	151			Phosphatase sequence motif I.		C9JKF5|Q3KQX6|Q9BY45	Silent	SNP	ENST00000424479.2	37	c.330A>G	CCDS47841.1	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134488	0.21123	.	.	ENSG00000147535	ENST00000534339	.	.	.	5.01	-5.68	0.02436	.	.	.	.	.	T	0.45034	0.1322	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46857	-0.9161	4	.	.	.	-33.5749	5.1759	0.15135	0.1029:0.1424:0.5209:0.2339	.	.	.	.	G	145	.	.	D	-	2	0	PPAPDC1B	38243952	0.021000	0.18746	0.911000	0.35937	0.937000	0.57800	-1.348000	0.02629	-0.641000	0.05487	0.455000	0.32223	GAC		0.453	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	NM_032483		25	31	0	0	0	1	0	25	31				
SCRN2	90507	broad.mit.edu	37	17	45916866	45916866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45916866G>A	ENST00000290216.9	-	4	625	c.500C>T	c.(499-501)aCt>aTt	p.T167I	SCRN2_ENST00000407215.3_Missense_Mutation_p.T167I|SCRN2_ENST00000584123.1_Missense_Mutation_p.T175I	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	167						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCACGCCTCAGTGCGGTCAGC	0.607																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(499-501)aCt>aTt		secernin 2							84.0	78.0	80.0					17																	45916866		2203	4300	6503	SO:0001583	missense	90507				proteolysis		dipeptidase activity	g.chr17:45916866G>A	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.500C>T	17.37:g.45916866G>A	ENSP00000290216:p.Thr167Ile					SCRN2_ENST00000290216.9_Missense_Mutation_p.T167I|SCRN2_ENST00000584123.1_Missense_Mutation_p.T175I	p.T167I			Q96FV2	SCRN2_HUMAN			4	581	-			167					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	c.500C>T	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990123	0.35131	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.22539	1.95;1.95	5.34	0.666	0.17901	.	0.840979	0.11174	N	0.591717	T	0.28400	0.0702	M	0.62723	1.935	0.09310	N	1	P;P;P	0.49696	0.927;0.927;0.927	P;P;P	0.48952	0.596;0.596;0.596	T	0.15206	-1.0445	10	0.49607	T	0.09	-6.7234	9.3599	0.38190	0.0:0.1112:0.4376:0.4512	.	167;167;167	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	I	167	ENSP00000290216:T167I;ENSP00000383935:T167I	ENSP00000290216:T167I	T	-	2	0	SCRN2	43271865	0.000000	0.05858	0.491000	0.27477	0.461000	0.32589	-0.993000	0.03720	0.587000	0.29643	-0.314000	0.08810	ACT		0.607	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		6	96	0	0	0	1	0	6	96				
LCA5L	150082	broad.mit.edu	37	21	40800154	40800154	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40800154A>G	ENST00000358268.2	-	4	794	c.266T>C	c.(265-267)gTg>gCg	p.V89A	LCA5L_ENST00000380671.2_Missense_Mutation_p.V89A|LCA5L_ENST00000485895.2_Missense_Mutation_p.V89A|LCA5L_ENST00000288350.3_Missense_Mutation_p.V89A			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	89										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTCTTTTACCACAGGCTGCTT	0.323																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(265-267)gTg>gCg		Leber congenital amaurosis 5-like							55.0	60.0	58.0					21																	40800154		2201	4300	6501	SO:0001583	missense	150082							g.chr21:40800154A>G	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.266T>C	21.37:g.40800154A>G	ENSP00000351008:p.Val89Ala					LCA5L_ENST00000288350.3_Missense_Mutation_p.V89A|LCA5L_ENST00000380671.2_Missense_Mutation_p.V89A|LCA5L_ENST00000485895.2_Missense_Mutation_p.V89A	p.V89A			O95447	LCA5L_HUMAN			4	794	-		Prostate(19;1.2e-06)	89					D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	c.266T>C	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	A	6.533	0.466625	0.12402	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018;ENST00000448288;ENST00000434281;ENST00000438404;ENST00000411566	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.9;0.85;0.8;0.8;0.76	5.55	-2.15	0.07102	.	1.732920	0.02940	N	0.140367	T	0.29458	0.0734	N	0.16478	0.41	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.14578	0.011;0.003	T	0.06607	-1.0817	10	0.10902	T	0.67	-0.0653	1.3423	0.02157	0.4396:0.1189:0.2812:0.1604	.	89;89	C9JFB6;O95447	.;LCA5L_HUMAN	A	89	ENSP00000288350:V89A;ENSP00000370046:V89A;ENSP00000351008:V89A;ENSP00000404521:V89A;ENSP00000405598:V89A;ENSP00000400086:V89A;ENSP00000405130:V89A;ENSP00000412691:V89A	ENSP00000288350:V89A	V	-	2	0	LCA5L	39722024	0.000000	0.05858	0.000000	0.03702	0.729000	0.41735	-0.081000	0.11321	-0.180000	0.10637	0.528000	0.53228	GTG		0.323	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		41	71	0	0	0	1	0	41	71				
MRPL11	65003	broad.mit.edu	37	11	66204828	66204828	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66204828C>A	ENST00000310999.7	-	3	399	c.306G>T	c.(304-306)cgG>cgT	p.R102R	MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Silent_p.R76R|MRPL11_ENST00000329819.4_Silent_p.R102R	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	102					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CACCTGTTTGCCGGGCCCCCT	0.507																																						ENST00000310999.7																			0				endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						c.(304-306)cgG>cgT		mitochondrial ribosomal protein L11							56.0	56.0	56.0					11																	66204828		2200	4295	6495	SO:0001819	synonymous_variant	65003				translation		structural constituent of ribosome	g.chr11:66204828C>A	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.306G>T	11.37:g.66204828C>A						MRPL11_ENST00000329819.4_Silent_p.R102R|MRPL11_ENST00000430466.2_Silent_p.R76R|MRPL11_ENST00000524576.1_5'UTR	p.R102R	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN			3	399	-			102					A6NLT0|A8K219|Q32P46|Q96Q73	Silent	SNP	ENST00000310999.7	37	c.306G>T	CCDS8139.1																																																																																				0.507	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		8	39	1	0	0.0381472	1	0.0390147	8	39				
PPP1R2	5504	broad.mit.edu	37	3	195256664	195256664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195256664G>A	ENST00000328432.3	-	2	521	c.161C>T	c.(160-162)gCg>gTg	p.A54V		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	54	Required for binding PPP1CC. {ECO:0000250}.				generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATGATACGTCGCCAAGATGTT	0.353																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(160-162)gCg>gTg		protein phosphatase 1, regulatory (inhibitor) subunit 2							123.0	105.0	111.0					3																	195256664		2203	4300	6503	SO:0001583	missense	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195256664G>A	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.161C>T	3.37:g.195256664G>A	ENSP00000328178:p.Ala54Val						p.A54V	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	2	521	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		54			Required for binding PPP1CC (By similarity).			Missense_Mutation	SNP	ENST00000328432.3	37	c.161C>T	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208990	0.79240	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	6.06	6.06	0.98353	.	0.053616	0.85682	D	0.000000	T	0.63355	0.2504	M	0.69185	2.1	0.80722	D	1	B;P	0.35328	0.044;0.495	B;B	0.33254	0.02;0.16	T	0.65307	-0.6200	9	0.59425	D	0.04	.	18.1336	0.89610	0.0:0.0:1.0:0.0	.	54;54	E7EMN6;P41236	.;IPP2_HUMAN	V	54	.	ENSP00000328178:A54V	A	-	2	0	PPP1R2	196737953	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.073000	0.93992	2.880000	0.98712	0.650000	0.86243	GCG		0.353	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		27	62	0	0	0	1	0	27	62				
CFLAR	8837	broad.mit.edu	37	2	202025238	202025238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202025238C>A	ENST00000309955.3	+	9	1392	c.877C>A	c.(877-879)Ctt>Att	p.L293I	CFLAR_ENST00000443227.1_Missense_Mutation_p.L197I|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.L293I|CFLAR_ENST00000479953.2_Missense_Mutation_p.L197I|CFLAR_ENST00000340870.5_Missense_Mutation_p.L293I|CFLAR_ENST00000341582.6_Missense_Mutation_p.L258I|CFLAR_ENST00000423241.2_Missense_Mutation_p.L293I|CFLAR-AS1_ENST00000415011.2_RNA	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	293	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.L293V(1)|p.L293I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ATCCCAGATTCTTGGCCAATT	0.498																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			2	Substitution - Missense(2)	p.L293V(1)|p.L293I(1)	large_intestine(1)|stomach(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(877-879)Ctt>Att		CASP8 and FADD-like apoptosis regulator							192.0	172.0	179.0					2																	202025238		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025238C>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.877C>A	2.37:g.202025238C>A	ENSP00000312455:p.Leu293Ile					CFLAR_ENST00000340870.5_Missense_Mutation_p.L293I|CFLAR_ENST00000341582.6_Missense_Mutation_p.L258I|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000479953.2_Missense_Mutation_p.L197I|CFLAR_ENST00000457277.1_Missense_Mutation_p.L293I|CFLAR_ENST00000423241.2_Missense_Mutation_p.L293I|CFLAR_ENST00000443227.1_Missense_Mutation_p.L197I	p.L293I	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1392	+			293			Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.877C>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572750	0.65765	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53;3.53	5.62	4.73	0.59995	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.130249	0.49916	D	0.000122	T	0.16896	0.0406	M	0.70842	2.15	0.21915	N	0.999471	P;D;P;D	0.76494	0.945;0.999;0.951;0.997	P;P;P;P	0.62813	0.858;0.907;0.527;0.906	T	0.13072	-1.0523	10	0.54805	T	0.06	-8.8723	4.9307	0.13916	0.0:0.6115:0.2018:0.1867	.	197;293;258;293	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	I	293;197;293;179;258;293;293	ENSP00000312455:L293I;ENSP00000413270:L197I;ENSP00000339326:L293I;ENSP00000345807:L258I;ENSP00000399420:L293I;ENSP00000411535:L293I	ENSP00000312455:L293I	L	+	1	0	CFLAR	201733483	0.854000	0.29725	0.037000	0.18230	0.008000	0.06430	1.776000	0.38594	1.332000	0.45431	0.561000	0.74099	CTT		0.498	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		56	112	1	0	6.56871e-35	1	8.83534e-35	56	112				
HHIP	64399	broad.mit.edu	37	4	145635498	145635498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145635498T>C	ENST00000296575.3	+	9	2200	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	515					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGATCGTAATGGGTAGGTTT	0.388																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1543-1545)aaT>aaC		hedgehog interacting protein							135.0	115.0	122.0					4																	145635498		2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145635498T>C	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1545T>C	4.37:g.145635498T>C							p.N515N	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	9	2200	+	all_hematologic(180;0.151)		515					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.1545T>C	CCDS3762.1																																																																																				0.388	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			15	28	0	0	0	1	0	15	28				
CAMSAP3	57662	broad.mit.edu	37	19	7682811	7682811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7682811G>A	ENST00000160298.4	+	17	3719	c.3618G>A	c.(3616-3618)tcG>tcA	p.S1206S	CAMSAP3_ENST00000446248.2_Silent_p.S1233S	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1206	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGTACAACTCGGACCGCAAGC	0.632																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(3697-3699)tcG>tcA		calmodulin regulated spectrin-associated protein family, member 3							46.0	52.0	50.0					19																	7682811		2066	4187	6253	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682811G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3618G>A	19.37:g.7682811G>A						CAMSAP3_ENST00000160298.4_Silent_p.S1206S	p.S1233S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			19	3800	+			1206			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3699G>A	CCDS42489.1																																																																																				0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		19	23	0	0	0	1	0	19	23				
HGSNAT	138050	broad.mit.edu	37	8	43014188	43014188	+	Splice_Site	SNP	G	G	A	rs193066451		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43014188G>A	ENST00000458501.2	+	4	577		c.e4+1		HGSNAT_ENST00000379644.4_Splice_Site			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTAACCTTCGTACGTATATG	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15879	0.0		0.0	False		,,,				2504	0.0					ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	GRCh37	CS064420	HGSNAT	S	rs193066451	c.e4+1		heparan-alpha-glucosaminide N-acetyltransferase							147.0	139.0	141.0					8																	43014188		1895	4124	6019	SO:0001630	splice_region_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43014188G>A		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.577+1G>A	8.37:g.43014188G>A						HGSNAT_ENST00000379644.4_Splice_Site				Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		4	577	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)						B4E2V0	Splice_Site	SNP	ENST00000458501.2	37			1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.76	2.927465	0.52759	.	.	ENSG00000165102	ENST00000458501;ENST00000332689;ENST00000379644	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0052	0.71507	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HGSNAT	43133345	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	5.039000	0.64185	2.616000	0.88540	0.585000	0.79938	.		0.393	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	Intron	8	23	0	0	0	1	0	8	23				
PARP14	54625	broad.mit.edu	37	3	122447187	122447187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122447187G>A	ENST00000474629.2	+	17	5415	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1717	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTATTTTGCTGTCAATGCCAA	0.373																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(5149-5151)Gtc>Atc		poly (ADP-ribose) polymerase family, member 14							101.0	98.0	99.0					3																	122447187		2043	4225	6268	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122447187G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5149G>A	3.37:g.122447187G>A	ENSP00000418194:p.Val1717Ile						p.V1717I	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	17	5415	+			1717			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5149G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562608	0.86335	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.14391	2.51	5.83	5.83	0.93111	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000015	T	0.47525	0.1450	M	0.89785	3.06	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	T	0.53585	-0.8418	10	0.62326	D	0.03	.	18.6762	0.91529	0.0:0.0:1.0:0.0	.	1717	Q460N5	PAR14_HUMAN	I	1717;1636;713	ENSP00000418194:V1717I	ENSP00000381224:V713I	V	+	1	0	PARP14	123929877	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.718000	0.54919	2.749000	0.94314	0.655000	0.94253	GTC		0.373	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		34	51	0	0	0	1	0	34	51				
SMC3	9126	broad.mit.edu	37	10	112357911	112357911	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112357911A>C	ENST00000361804.4	+	20	2257	c.2131A>C	c.(2131-2133)Att>Ctt	p.I711L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	711					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAATAATGAAATTGATCAGTT	0.323																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2131-2133)Att>Ctt		structural maintenance of chromosomes 3							102.0	111.0	108.0					10																	112357911		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112357911A>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2131A>C	10.37:g.112357911A>C	ENSP00000354720:p.Ile711Leu						p.I711L	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	20	2257	+		Breast(234;0.0848)|Lung NSC(174;0.238)	711					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2131A>C	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586450	0.86851	.	.	ENSG00000108055	ENST00000361804	T	0.74106	-0.81	5.23	5.23	0.72850	RecF/RecN/SMC (1);	0.092629	0.64402	D	0.000001	T	0.76011	0.3928	L	0.52823	1.66	0.80722	D	1	P	0.45531	0.86	P	0.52309	0.695	T	0.71882	-0.4458	10	0.07990	T	0.79	.	15.4369	0.75155	1.0:0.0:0.0:0.0	.	711	Q9UQE7	SMC3_HUMAN	L	711	ENSP00000354720:I711L	ENSP00000354720:I711L	I	+	1	0	SMC3	112347901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.799000	0.91895	2.103000	0.63969	0.477000	0.44152	ATT		0.323	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		9	81	0	0	0	1	0	9	81				
C11orf63	79864	broad.mit.edu	37	11	122774696	122774696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122774696G>T	ENST00000531316.1	+	2	500	c.408G>T	c.(406-408)aaG>aaT	p.K136N	C11orf63_ENST00000227349.2_Missense_Mutation_p.K136N|C11orf63_ENST00000307257.6_Missense_Mutation_p.K136N			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	136					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAGTAAGAAGGAGGAAGGGC	0.512																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(406-408)aaG>aaT		chromosome 11 open reading frame 63							128.0	142.0	137.0					11																	122774696		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122774696G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.408G>T	11.37:g.122774696G>T	ENSP00000431669:p.Lys136Asn					C11orf63_ENST00000531316.1_Missense_Mutation_p.K136N|C11orf63_ENST00000307257.6_Missense_Mutation_p.K136N	p.K136N	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	705	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	136					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.408G>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	7.446	0.641635	0.14451	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.53857	0.6;0.6	5.83	-0.998	0.10212	.	0.540270	0.19102	N	0.122673	T	0.34308	0.0893	L	0.40543	1.245	0.09310	N	0.999997	B;B	0.23249	0.082;0.082	B;B	0.25140	0.058;0.058	T	0.15235	-1.0444	10	0.41790	T	0.15	-8.3559	1.6778	0.02825	0.5414:0.1283:0.2071:0.1233	.	136;136	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	N	136	ENSP00000227349:K136N;ENSP00000431669:K136N	ENSP00000227349:K136N	K	+	3	2	C11orf63	122279906	0.196000	0.23350	0.097000	0.21041	0.034000	0.12701	0.278000	0.18753	-0.101000	0.12219	-0.793000	0.03317	AAG		0.512	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		70	162	1	0	2.18329e-32	1	2.92945e-32	70	162				
SERPINB4	6318	broad.mit.edu	37	18	61305127	61305127	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61305127A>G	ENST00000341074.5	-	8	1114	c.999T>C	c.(997-999)ttT>ttC	p.F333F	SERPINB4_ENST00000356424.6_Silent_p.F281F	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	333					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGACCTCCACAAAGGCCTTGT	0.488																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(997-999)ttT>ttC		serpin peptidase inhibitor, clade B (ovalbumin), member 4							113.0	107.0	109.0					18																	61305127		2203	4300	6503	SO:0001819	synonymous_variant	6318							g.chr18:61305127A>G	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.999T>C	18.37:g.61305127A>G						SERPINB4_ENST00000356424.6_Silent_p.F281F	p.F333F	NM_002974.2	NP_002965.1					8	1114	-								A8K847	Silent	SNP	ENST00000341074.5	37	c.999T>C	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	A	0.907	-0.720490	0.03182	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	0.642	0.17765	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45454	-0.9260	4	.	.	.	.	8.1312	0.31029	0.7535:0.0:0.2465:0.0	.	.	.	.	S	314	.	.	L	-	2	0	SERPINB4	59456107	0.928000	0.31464	0.989000	0.46669	0.027000	0.11550	0.281000	0.18810	0.026000	0.15269	0.496000	0.49642	TTG		0.488	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		4	86	0	0	0	1	0	4	86				
PLOD1	5351	broad.mit.edu	37	1	12017043	12017043	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12017043T>C	ENST00000196061.4	+	7	740	c.713T>C	c.(712-714)gTc>gCc	p.V238A	PLOD1_ENST00000376369.3_Missense_Mutation_p.V285A|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	238					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCTCCCGGTCCTGATCCAT	0.607																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(712-714)gTc>gCc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						120.0	102.0	108.0					1																	12017043		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017043T>C	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.713T>C	1.37:g.12017043T>C	ENSP00000196061:p.Val238Ala					PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.V285A	p.V238A	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	740	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	238					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.713T>C	CCDS142.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.017735	0.54576	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	T;T	0.64803	-0.12;-0.11	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	0.964;1.0	P;D	0.80764	0.701;0.994	T	0.68250	-0.5458	10	0.30854	T	0.27	.	12.9095	0.58173	0.0:0.0:0.0:1.0	.	285;238	B4DR87;Q02809	.;PLOD1_HUMAN	A	285;238	ENSP00000365548:V285A;ENSP00000196061:V238A	ENSP00000196061:V238A	V	+	2	0	PLOD1	11939630	1.000000	0.71417	0.875000	0.34327	0.915000	0.54546	7.828000	0.86729	1.835000	0.53391	0.533000	0.62120	GTC		0.607	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		7	67	0	0	0	1	0	7	67				
CRTC3	64784	broad.mit.edu	37	15	91136970	91136970	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91136970G>T	ENST00000268184.6	+	3	338	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	CTD-3065B20.2_ENST00000558389.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.D112Y|CRTC3_ENST00000560098.1_Intron|CRTC3_ENST00000558619.1_3'UTR			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	112					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGGTCTGGGGACAAGCCAGG	0.502			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(334-336)Gac>Tac		CREB regulated transcription coactivator 3							65.0	71.0	69.0					15																	91136970		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91136970G>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.334G>T	15.37:g.91136970G>T	ENSP00000268184:p.Asp112Tyr					CRTC3_ENST00000268184.6_Missense_Mutation_p.D112Y|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Intron	p.D112Y	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		3	481	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		112					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.334G>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039747	0.75732	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.12984	2.63;2.64	5.67	5.67	0.87782	.	0.205951	0.49305	D	0.000149	T	0.28267	0.0698	L	0.39898	1.24	0.53005	D	0.999967	P;P	0.50710	0.804;0.938	P;P	0.60682	0.691;0.878	T	0.00134	-1.2008	10	0.72032	D	0.01	-16.6267	17.6312	0.88108	0.0:0.0:1.0:0.0	.	112;112	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	Y	76;112;112	ENSP00000268184:D112Y;ENSP00000416573:D112Y	ENSP00000268184:D112Y	D	+	1	0	CRTC3	88937974	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.786000	0.62425	2.836000	0.97738	0.655000	0.94253	GAC		0.502	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		18	38	1	0	5.35267e-07	1	6.25286e-07	18	38				
UGGT1	56886	broad.mit.edu	37	2	128877980	128877980	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128877980T>C	ENST00000259253.6	+	9	970	c.923T>C	c.(922-924)cTt>cCt	p.L308P	UGGT1_ENST00000375990.3_Missense_Mutation_p.L284P|RN7SL206P_ENST00000580933.1_RNA	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	308					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAAGCATCTTGTAGAGAGC	0.403																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(850-852)cTt>cCt		UDP-glucose glycoprotein glucosyltransferase 1							160.0	165.0	164.0					2																	128877980		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128877980T>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.923T>C	2.37:g.128877980T>C	ENSP00000259253:p.Leu308Pro					UGGT1_ENST00000259253.6_Missense_Mutation_p.L308P	p.L284P			Q9NYU2	UGGG1_HUMAN			9	1254	+			308					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.851T>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.623166	0.66901	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.46063	0.88;0.88	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.975;1.0	T	0.80320	-0.1432	10	0.87932	D	0	.	14.7077	0.69203	0.0:0.0:0.0:1.0	.	284;308	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	P	284;308	ENSP00000365158:L284P;ENSP00000259253:L308P	ENSP00000259253:L308P	L	+	2	0	UGGT1	128594450	1.000000	0.71417	0.810000	0.32431	0.583000	0.36354	7.387000	0.79785	1.872000	0.54250	0.379000	0.24179	CTT		0.403	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		6	201	0	0	0	1	0	6	201				
KRTAP4-8	728224	broad.mit.edu	37	17	39254125	39254125	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39254125A>G	ENST00000333822.4	-	1	268	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCAGCTGGACACACAGCAGCT	0.667																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(211-213)gTg>gCg		keratin associated protein 4-8							5.0	8.0	7.0					17																	39254125		620	1440	2060	SO:0001583	missense	728224					keratin filament		g.chr17:39254125A>G	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.212T>C	17.37:g.39254125A>G	ENSP00000328444:p.Val71Ala						p.V71A	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	268	-			71			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.212T>C	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	1.181	-0.638187	0.03557	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01369	4.97	3.63	-0.24	0.13047	.	3.062900	0.01485	U	0.016837	T	0.02012	0.0063	M	0.72479	2.2	0.09310	N	1	B	0.28820	0.224	B	0.26202	0.067	T	0.51896	-0.8647	10	0.09084	T	0.74	.	1.6233	0.02718	0.551:0.1816:0.1045:0.1629	.	71	Q9BYQ9	KRA48_HUMAN	A	71	ENSP00000328444:V71A	ENSP00000414561:V71A	V	-	2	0	KRTAP4-8	36507651	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	-1.890000	0.01613	-0.327000	0.08551	-0.804000	0.03201	GTG		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		13	11	0	0	0	1	0	13	11				
MDGA2	161357	broad.mit.edu	37	14	47343308	47343308	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47343308T>C	ENST00000399232.2	-	13	2690	c.2326A>G	c.(2326-2328)Aga>Gga	p.R776G	MDGA2_ENST00000426342.1_Missense_Mutation_p.R547G|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Missense_Mutation_p.R547G|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGTATTTCTTGTTGCTGTA	0.368																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1639-1641)Aga>Gga		MAM domain containing glycosylphosphatidylinositol anchor 2							170.0	162.0	165.0					14																	47343308		1843	4098	5941	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47343308T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2326A>G	14.37:g.47343308T>C	ENSP00000382178:p.Arg776Gly					MDGA2_ENST00000439988.2_Missense_Mutation_p.R776G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R547G|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.R845G	p.R547G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			13	2385	-			776			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1639A>G		.	.	.	.	.	.	.	.	.	.	T	19.40	3.819730	0.71028	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.37	4.15	0.48705	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.50627	U	0.000107	T	0.05364	0.0142	N	0.25647	0.755	0.80722	D	1	B;D	0.56521	0.178;0.976	B;D	0.65140	0.084;0.932	T	0.46925	-0.9156	10	0.72032	D	0.01	.	11.0016	0.47609	0.0:0.0:0.156:0.844	rs35704871	547;776	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	776;547;845;547	ENSP00000400011:R776G;ENSP00000405456:R547G;ENSP00000382178:R845G;ENSP00000349925:R547G	ENSP00000349925:R547G	R	-	1	2	MDGA2	46413058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.251000	0.51453	2.024000	0.59613	0.383000	0.25322	AGA		0.368	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	82	0	0	0	1	0	5	82				
ADAMTS1	9510	broad.mit.edu	37	21	28210177	28210177	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28210177C>A	ENST00000284984.3	-	9	3079	c.2625G>T	c.(2623-2625)caG>caT	p.Q875H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	875	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCAGTCTTCTCTGCCAACCCA	0.478																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2623-2625)caG>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							124.0	117.0	119.0					21																	28210177		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210177C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2625G>T	21.37:g.28210177C>A	ENSP00000284984:p.Gln875His						p.Q875H	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3079	-		Breast(209;0.000962)	875			TSP type-1 2.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.2625G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345481	0.41498	.	.	ENSG00000154734	ENST00000284984	T	0.57752	0.38	5.51	4.55	0.56014	.	.	.	.	.	T	0.67411	0.2890	M	0.88906	2.99	0.80722	D	1	P	0.42649	0.786	P	0.48089	0.566	T	0.72221	-0.4356	9	0.49607	T	0.09	.	14.9245	0.70866	0.0:0.9219:0.0:0.0781	.	875	Q9UHI8	ATS1_HUMAN	H	875	ENSP00000284984:Q875H	ENSP00000284984:Q875H	Q	-	3	2	ADAMTS1	27132048	0.998000	0.40836	1.000000	0.80357	0.368000	0.29767	1.193000	0.32162	2.868000	0.98415	0.557000	0.71058	CAG		0.478	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			18	83	1	0	1.33834e-09	1	1.62941e-09	18	83				
LTBP2	4053	broad.mit.edu	37	14	75078499	75078499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75078499G>A	ENST00000261978.4	-	1	535	c.149C>T	c.(148-150)gCg>gTg	p.A50V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A50V|LTBP2_ENST00000557425.1_Intron|CTD-2207P18.2_ENST00000556652.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	50					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGTCGATTCGCGTCTCCACC	0.692																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(148-150)gCg>gTg		latent transforming growth factor beta binding protein 2							12.0	14.0	14.0					14																	75078499		2178	4264	6442	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078499G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.149C>T	14.37:g.75078499G>A	ENSP00000261978:p.Ala50Val					LTBP2_ENST00000556690.1_Missense_Mutation_p.A50V|LTBP2_ENST00000557425.1_Intron	p.A50V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	1	535	-			50					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.149C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612633	0.66672	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78924	-1.21;-1.22	3.5	1.45	0.22620	.	0.696787	0.11843	N	0.524100	T	0.68979	0.3060	L	0.27053	0.805	0.09310	N	1	D	0.60575	0.988	P	0.48795	0.59	T	0.59451	-0.7452	10	0.72032	D	0.01	.	7.0763	0.25207	0.1042:0.1737:0.7221:0.0	.	50	Q14767	LTBP2_HUMAN	V	50	ENSP00000261978:A50V;ENSP00000451477:A50V	ENSP00000261978:A50V	A	-	2	0	LTBP2	74148252	0.002000	0.14202	0.552000	0.28243	0.841000	0.47740	0.486000	0.22340	0.820000	0.34516	-0.379000	0.06801	GCG		0.692	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	8	0	0	0	1	0	4	8				
SRF	6722	broad.mit.edu	37	6	43143694	43143694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43143694C>T	ENST00000265354.4	+	3	1389	c.1031C>T	c.(1030-1032)aCc>aTc	p.T344I	SRF_ENST00000457278.2_Missense_Mutation_p.T140I	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	344					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCAGCTTCACCCTCATGCCT	0.587																																						ENST00000265354.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12						c.(1030-1032)aCc>aTc		serum response factor (c-fos serum response element-binding transcription factor)							51.0	47.0	48.0					6																	43143694		2203	4300	6503	SO:0001583	missense	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43143694C>T	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1031C>T	6.37:g.43143694C>T	ENSP00000265354:p.Thr344Ile					SRF_ENST00000457278.2_Missense_Mutation_p.T140I	p.T344I	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	1389	+			344					Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	c.1031C>T	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434376	0.62955	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.84516	-1.86	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.61397	0.888	D	0.85218	0.1025	10	0.34782	T	0.22	0.1424	18.4766	0.90795	0.0:1.0:0.0:0.0	.	344	P11831	SRF_HUMAN	I	344;140	ENSP00000265354:T344I	ENSP00000265354:T344I	T	+	2	0	SRF	43251672	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.214000	0.77958	2.361000	0.80049	0.561000	0.74099	ACC		0.587	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		13	21	0	0	0	1	0	13	21				
TRAIP	10293	broad.mit.edu	37	3	49869458	49869458	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49869458A>G	ENST00000331456.2	-	11	1041	c.928T>C	c.(928-930)Ttc>Ctc	p.F310L	TRAIP_ENST00000469027.1_Missense_Mutation_p.F155L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	310	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCACGGAAGGATGGCCGG	0.552																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(928-930)Ttc>Ctc		TRAF interacting protein							85.0	88.0	87.0					3																	49869458		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49869458A>G	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.928T>C	3.37:g.49869458A>G	ENSP00000328203:p.Phe310Leu					TRAIP_ENST00000469027.1_Missense_Mutation_p.F155L	p.F310L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1041	-			310			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.928T>C	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610002	0.28712	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.40756	1.02	5.83	3.07	0.35406	.	0.557994	0.21514	N	0.073324	T	0.20820	0.0501	L	0.34521	1.04	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.21280	-1.0250	10	0.07482	T	0.82	-0.5499	0.3313	0.00319	0.3892:0.2367:0.1477:0.2264	.	310;310	A8K807;Q9BWF2	.;TRAIP_HUMAN	L	310;155	ENSP00000420085:F155L	ENSP00000328203:F310L	F	-	1	0	TRAIP	49844462	0.000000	0.05858	0.714000	0.30535	0.961000	0.63080	-0.072000	0.11486	2.235000	0.73313	0.533000	0.62120	TTC		0.552	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		7	63	0	0	0	1	0	7	63				
DLGAP1	9229	broad.mit.edu	37	18	3729277	3729277	+	Missense_Mutation	SNP	C	C	T	rs200155937		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3729277C>T	ENST00000315677.3	-	7	2044	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	DLGAP1_ENST00000581527.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.M181I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.M483I|DLGAP1_ENST00000400145.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400149.3_Missense_Mutation_p.M191I|DLGAP1_ENST00000400147.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.M189I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000534970.1_Missense_Mutation_p.M195I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	483					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGCAGCCGGGCATGGGCAGGT	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15943	0.0		0.0	False		,,,				2504	0.0					ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(1447-1449)atG>atA		discs, large (Drosophila) homolog-associated protein 1							46.0	39.0	41.0					18																	3729277		2203	4298	6501	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3729277C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1449G>A	18.37:g.3729277C>T	ENSP00000316377:p.Met483Ile					DLGAP1_ENST00000400145.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.M191I|DLGAP1_ENST00000400147.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.M483I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.M181I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000581527.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000534970.1_Missense_Mutation_p.M195I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.M189I	p.M483I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			7	2044	-		Colorectal(8;0.0257)	483					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1449G>A	CCDS11836.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	C	18.46	3.629611	0.67015	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	D;D;D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.9	5.9	0.94986	.	0.335609	0.37095	N	0.002254	D	0.85208	0.5644	L	0.59436	1.845	0.51767	D	0.999931	B;B;B;B;B;B;B;B;B	0.16396	0.005;0.0;0.004;0.001;0.017;0.01;0.008;0.004;0.002	B;B;B;B;B;B;B;B;B	0.15052	0.003;0.001;0.009;0.003;0.009;0.01;0.007;0.009;0.012	T	0.82192	-0.0579	10	0.59425	D	0.04	-8.6807	20.2821	0.98520	0.0:1.0:0.0:0.0	.	483;195;169;189;181;483;181;483;181	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;Q6IS01;O14490-3;O14490;O14490-2	.;.;.;.;.;.;.;DLGP1_HUMAN;.	I	483;181;189;191;189;195;181;181;483	ENSP00000316377:M483I;ENSP00000383011:M181I;ENSP00000383014:M189I;ENSP00000383013:M191I;ENSP00000383019:M189I;ENSP00000437817:M195I;ENSP00000446312:M181I;ENSP00000383010:M181I;ENSP00000445973:M483I	ENSP00000316377:M483I	M	-	3	0	DLGAP1	3719277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.544000	0.53640	2.786000	0.95864	0.563000	0.77884	ATG		0.652	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			7	22	0	0	0	1	0	7	22				
MIA3	375056	broad.mit.edu	37	1	222801943	222801943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222801943G>A	ENST00000344922.5	+	4	1406	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	MIA3_ENST00000344507.1_Missense_Mutation_p.E461K|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E461K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	461					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTAAACGCAGAACATCACAT	0.393																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(1381-1383)Gaa>Aaa		melanoma inhibitory activity family, member 3							105.0	103.0	104.0					1																	222801943		1873	4102	5975	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222801943G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1381G>A	1.37:g.222801943G>A	ENSP00000340900:p.Glu461Lys					MIA3_ENST00000344507.1_Missense_Mutation_p.E461K|MIA3_ENST00000344441.6_Missense_Mutation_p.E461K|MIA3_ENST00000470521.1_3'UTR	p.E461K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1406	+			461					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1381G>A	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.32|13.32	2.201400|2.201400	0.38905|0.38905	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507|ENST00000354906	T;T;T|.	0.41065|.	1.01;1.01;1.35|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	.|.	.|.	.|.	.|.	T|T	0.42063|0.42063	0.1186|0.1186	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B;B|.	0.25609|.	0.13;0.1|.	B;B|.	0.30029|.	0.11;0.033|.	T|T	0.28073|0.28073	-1.0055|-1.0055	9|5	0.54805|.	T|.	0.06|.	.|.	9.1701|9.1701	0.37076|0.37076	0.0807:0.0:0.773:0.1463|0.0807:0.0:0.773:0.1463	.|.	461;461|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|K	461|43	ENSP00000340900:E461K;ENSP00000340587:E461K;ENSP00000341348:E461K|.	ENSP00000325973:E461K|.	E|R	+|+	1|2	0|0	MIA3|MIA3	220868566|220868566	0.033000|0.033000	0.19621|0.19621	0.073000|0.073000	0.20177|0.20177	0.186000|0.186000	0.23388|0.23388	1.239000|1.239000	0.32719|0.32719	2.269000|2.269000	0.75478|0.75478	0.305000|0.305000	0.20034|0.20034	GAA|AGA		0.393	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		19	121	0	0	0	1	0	19	121				
BOD1L1	259282	broad.mit.edu	37	4	13615173	13615173	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13615173C>T	ENST00000040738.5	-	5	1422	c.1287G>A	c.(1285-1287)acG>acA	p.T429T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	429	Lys-rich.		T -> M (in dbSNP:rs2035820).			nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T429T(1)									TGCTATCAGACGTTACAACTT	0.383																																						ENST00000040738.5																			1	Substitution - coding silent(1)	p.T429T(1)	endometrium(1)								c.(1285-1287)acG>acA		biorientation of chromosomes in cell division 1-like 1							169.0	159.0	162.0					4																	13615173		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13615173C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1287G>A	4.37:g.13615173C>T							p.T429T	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			5	1422	-			429		T -> M (in dbSNP:rs2035820).	Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.1287G>A	CCDS3411.2																																																																																				0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		30	61	0	0	0	1	0	30	61				
OCLN	100506658	broad.mit.edu	37	5	68805040	68805040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805040G>A	ENST00000355237.2	+	3	559	c.123G>A	c.(121-123)caG>caA	p.Q41Q	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Silent_p.Q41Q|OCLN_ENST00000380766.2_Silent_p.Q41Q|OCLN_ENST00000538151.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	41					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGCTCTCTCAGCCAGCCTACT	0.408																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(121-123)caG>caA		occludin							106.0	108.0	107.0					5																	68805040		2203	4300	6503	SO:0001819	synonymous_variant	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805040G>A	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.123G>A	5.37:g.68805040G>A						OCLN_ENST00000380766.2_Silent_p.Q41Q|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Silent_p.Q41Q	p.Q41Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	559	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	41					B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	ENST00000355237.2	37	c.123G>A	CCDS4006.1																																																																																				0.408	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		37	72	0	0	0	1	0	37	72				
FLG2	388698	broad.mit.edu	37	1	152328811	152328811	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152328811G>T	ENST00000388718.5	-	3	1523	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	484	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCAGACCCATGTTG	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1450-1452)tCt>tAt		filaggrin family member 2							213.0	211.0	212.0					1																	152328811		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328811G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1451C>A	1.37:g.152328811G>T	ENSP00000373370:p.Ser484Tyr					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S484Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1523	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		484			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1451C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867660	0.32977	.	.	ENSG00000143520	ENST00000388718	T	0.23147	1.92	4.42	2.47	0.30058	.	.	.	.	.	T	0.16471	0.0396	L	0.31926	0.97	0.09310	N	1	D	0.64830	0.994	P	0.61397	0.888	T	0.05084	-1.0907	9	0.52906	T	0.07	0.1127	5.5621	0.17150	0.1095:0.2028:0.6877:0.0	.	484	Q5D862	FILA2_HUMAN	Y	484	ENSP00000373370:S484Y	ENSP00000373370:S484Y	S	-	2	0	FLG2	150595435	0.036000	0.19791	0.001000	0.08648	0.206000	0.24218	1.274000	0.33132	0.457000	0.26962	0.655000	0.94253	TCT		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		104	123	1	0	2.91292e-72	1	3.94406e-72	104	123				
COL12A1	1303	broad.mit.edu	37	6	75843580	75843580	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75843580C>A	ENST00000322507.8	-	33	5967	c.5658G>T	c.(5656-5658)gaG>gaT	p.E1886D	COL12A1_ENST00000345356.6_Missense_Mutation_p.E722D|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1886D|COL12A1_ENST00000416123.2_Missense_Mutation_p.E1886D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1886	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTACCAGTTCCTCTGGACCAC	0.433																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5656-5658)gaG>gaT		collagen, type XII, alpha 1							88.0	85.0	86.0					6																	75843580		1884	4115	5999	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75843580C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5658G>T	6.37:g.75843580C>A	ENSP00000325146:p.Glu1886Asp					COL12A1_ENST00000416123.2_Missense_Mutation_p.E1886D|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1886D|COL12A1_ENST00000345356.6_Missense_Mutation_p.E722D	p.E1886D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			33	5967	-			1886			Fibronectin type-III 14.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5658G>T	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.56|14.56	2.570744|2.570744	0.45798|0.45798	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.54479|.	0.57;0.57;0.57;0.57|.	5.86|5.86	3.07|3.07	0.35406|0.35406	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.43144|.	0.1234|.	L|L	0.58583|0.58583	1.82|1.82	0.41755|0.41755	D|D	0.989686|0.989686	B;B|.	0.19073|.	0.033;0.031|.	B;B|.	0.27796|.	0.034;0.083|.	T|.	0.40365|.	-0.9567|.	10|.	0.17832|.	T|.	0.49|.	.|.	5.5755|5.5755	0.17220|0.17220	0.1315:0.5704:0.0:0.2981|0.1315:0.5704:0.0:0.2981	.|.	722;1886|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	D|X	1886;1886;722;1886;1886|621	ENSP00000325146:E1886D;ENSP00000305147:E722D;ENSP00000412864:E1886D;ENSP00000421216:E1886D|.	ENSP00000325146:E1886D|.	E|G	-|-	3|1	2|0	COL12A1|COL12A1	75900300|75900300	0.419000|0.419000	0.25449|0.25449	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	-0.237000|-0.237000	0.08990|0.08990	0.804000|0.804000	0.34136|0.34136	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	26	1	0	1.3612e-06	1	1.57881e-06	15	26				
PARL	55486	broad.mit.edu	37	3	183585821	183585821	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183585821G>A	ENST00000317096.4	-	2	213	c.153C>T	c.(151-153)tgC>tgT	p.C51C	PARL_ENST00000435888.1_Silent_p.C51C|PARL_ENST00000311101.5_Silent_p.C51C	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	51					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTGAATCCGCATTTTTGTT	0.423																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(151-153)tgC>tgT		presenilin associated, rhomboid-like							87.0	80.0	82.0					3																	183585821		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183585821G>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.153C>T	3.37:g.183585821G>A						PARL_ENST00000311101.5_Silent_p.C51C|PARL_ENST00000435888.1_Silent_p.C51C	p.C51C	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	213	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		51					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.153C>T	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114669	0.20795	.	.	ENSG00000175193	ENST00000449306	.	.	.	5.19	1.53	0.23141	.	.	.	.	.	T	0.54791	0.1880	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43114	-0.9411	4	.	.	.	-20.4156	7.3409	0.26635	0.7304:0.0:0.2696:0.0	.	.	.	.	W	12	.	.	R	-	1	2	PARL	185068515	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.891000	0.28309	0.076000	0.16826	-0.302000	0.09304	CGG		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		30	39	0	0	0	1	0	30	39				
NEIL2	252969	broad.mit.edu	37	8	11637279	11637279	+	Missense_Mutation	SNP	C	C	T	rs368410610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11637279C>T	ENST00000284503.6	+	3	910	c.311C>T	c.(310-312)tCt>tTt	p.S104F	NEIL2_ENST00000403422.3_Missense_Mutation_p.S43F|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Missense_Mutation_p.S104F|NEIL2_ENST00000455213.2_Missense_Mutation_p.S104F	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	104					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCTCACGGTCTGCAGAGCTC	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(310-312)tCt>tTt	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							71.0	74.0	73.0					8																	11637279		2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637279C>T	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.311C>T	8.37:g.11637279C>T	ENSP00000284503:p.Ser104Phe					NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000455213.2_Missense_Mutation_p.S104F|NEIL2_ENST00000436750.3_Missense_Mutation_p.S104F|NEIL2_ENST00000403422.3_Missense_Mutation_p.S43F	p.S104F	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	910	+	all_epithelial(15;0.103)		104					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.311C>T	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950956	0.53186	.	.	ENSG00000154328	ENST00000530433;ENST00000455213;ENST00000403422;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T	0.07688	3.4;3.17;3.4;3.4	5.28	2.03	0.26663	DNA glycosylase/AP lyase, catalytic domain (2);	0.791425	0.11849	N	0.523541	T	0.13841	0.0335	L	0.51422	1.61	0.09310	N	1	P	0.49696	0.927	P	0.52109	0.69	T	0.13150	-1.0520	10	0.66056	D	0.02	-25.9246	6.9653	0.24619	0.0:0.6246:0.1306:0.2448	.	104	Q969S2	NEIL2_HUMAN	F	104;104;43;104;104;89	ENSP00000397538:S104F;ENSP00000384070:S43F;ENSP00000394023:S104F;ENSP00000284503:S104F	ENSP00000284503:S104F	S	+	2	0	NEIL2	11674688	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.011000	0.13264	0.610000	0.30035	0.561000	0.74099	TCT		0.602	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		32	48	0	0	0	1	0	32	48				
SLC14A2	8170	broad.mit.edu	37	18	43217042	43217042	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43217042G>A	ENST00000255226.6	+	6	1554	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SLC14A2_ENST00000586448.1_Silent_p.L246L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	246					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCACCTTGTACCTTGCAG	0.512																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(736-738)ttG>ttA		solute carrier family 14 (urea transporter), member 2							203.0	174.0	184.0					18																	43217042		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43217042G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.738G>A	18.37:g.43217042G>A						SLC14A2_ENST00000586448.1_Silent_p.L246L	p.L246L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			6	1554	+			246					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.738G>A	CCDS11924.1																																																																																				0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			15	155	0	0	0	1	0	15	155				
RASGEF1B	153020	broad.mit.edu	37	4	82369301	82369301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:82369301T>C	ENST00000264400.2	-	5	727	c.576A>G	c.(574-576)ccA>ccG	p.P192P	RASGEF1B_ENST00000509081.1_Silent_p.P191P|RASGEF1B_ENST00000335927.7_Silent_p.P150P	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	192					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTATAGACTGTGGCTTGGTCT	0.502																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(571-573)ccA>ccG		RasGEF domain family, member 1B							287.0	240.0	256.0					4																	82369301		2203	4300	6503	SO:0001819	synonymous_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369301T>C	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.576A>G	4.37:g.82369301T>C						RASGEF1B_ENST00000335927.7_Silent_p.P150P|RASGEF1B_ENST00000264400.2_Silent_p.P192P	p.P191P			Q0VAM2	RGF1B_HUMAN			5	794	-			192					Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	c.573A>G	CCDS34022.1																																																																																				0.502	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		43	115	0	0	0	1	0	43	115				
CYSLTR1	10800	broad.mit.edu	37	X	77528525	77528525	+	Missense_Mutation	SNP	G	G	A	rs200785164		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77528525G>A	ENST00000373304.3	-	3	1011	c.719C>T	c.(718-720)gCt>gTt	p.A240V		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	240					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAAAAAGGCAGCGGTCACGAC	0.343																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(718-720)gCt>gTt		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						104.0	93.0	97.0					X																	77528525		2202	4300	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528525G>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.719C>T	X.37:g.77528525G>A	ENSP00000362401:p.Ala240Val						p.A240V	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	1011	-			240					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.719C>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.692715	0.00731	.	.	ENSG00000173198	ENST00000373304	T	0.35048	1.33	4.15	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.280817	0.34986	N	0.003529	T	0.20210	0.0486	N	0.17764	0.52	0.26162	N	0.979991	B	0.12630	0.006	B	0.12156	0.007	T	0.16188	-1.0411	10	0.02654	T	1	.	12.8919	0.58076	0.0:0.0:1.0:0.0	.	240	Q9Y271	CLTR1_HUMAN	V	240	ENSP00000362401:A240V	ENSP00000362401:A240V	A	-	2	0	CYSLTR1	77415181	1.000000	0.71417	0.983000	0.44433	0.019000	0.09904	4.763000	0.62257	1.893000	0.54813	0.468000	0.43344	GCT		0.343	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			48	51	0	0	0	1	0	48	51				
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95228754T>A	ENST00000375544.3	-	4	730	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Missense_Mutation_p.S163C|ASPN_ENST00000375543.1_Missense_Mutation_p.S163C	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(487-489)Agt>Tgt		asporin							225.0	212.0	217.0					9																	95228754		2203	4300	6503	SO:0001583	missense	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228754T>A	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.487A>T	9.37:g.95228754T>A	ENSP00000364694:p.Ser163Cys					ASPN_ENST00000395538.3_Missense_Mutation_p.S163C|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.S163C	p.S163C	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			4	730	-			163					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37	c.487A>T		.	.	.	.	.	.	.	.	.	.	T	18.93	3.726977	0.69074	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538	T;T;T	0.04917	3.53;3.53;3.53	5.73	4.59	0.56863	.	0.421997	0.30840	N	0.008767	T	0.08670	0.0215	L	0.49126	1.545	0.31486	N	0.66658	P;P	0.44478	0.836;0.667	B;B	0.41299	0.353;0.353	T	0.03025	-1.1081	10	0.56958	D	0.05	.	12.16	0.54099	0.0:0.0672:0.0:0.9328	.	163;163	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	C	163	ENSP00000364694:S163C;ENSP00000364693:S163C;ENSP00000378909:S163C	ENSP00000364693:S163C	S	-	1	0	ASPN	94268575	0.877000	0.30153	0.996000	0.52242	0.980000	0.70556	2.579000	0.46059	1.103000	0.41568	0.533000	0.62120	AGT		0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		10	126	0	0	0	1	0	10	126				
PIGQ	9091	broad.mit.edu	37	16	633214	633214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633214G>A	ENST00000026218.5	+	10	1951	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	621					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGAGCAGATGTGGGGGTGGC	0.642																																						ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1861-1863)atG>atA		phosphatidylinositol glycan anchor biosynthesis, class Q							110.0	118.0	115.0					16																	633214		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633214G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1863G>A	16.37:g.633214G>A	ENSP00000026218:p.Met621Ile					PIGQ_ENST00000321878.5_3'UTR	p.M621I	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	1951	+		Hepatocellular(780;0.00335)	621					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1863G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	8.899	0.955807	0.18507	.	.	ENSG00000007541	ENST00000026218	T	0.18657	2.2	1.92	-3.0	0.05480	.	0.783938	0.12318	N	0.479558	T	0.06690	0.0171	N	0.08118	0	0.09310	N	0.999999	B;B	0.16603	0.018;0.0	B;B	0.09377	0.004;0.0	T	0.32375	-0.9909	9	.	.	.	-7.564	1.0709	0.01621	0.1599:0.2182:0.4005:0.2214	.	191;621	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	I	621	ENSP00000026218:M621I	.	M	+	3	0	PIGQ	573215	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.028000	0.03589	-0.879000	0.04002	-0.693000	0.03709	ATG		0.642	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		54	146	0	0	0	1	0	54	146				
SLC10A5	347051	broad.mit.edu	37	8	82606128	82606128	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82606128C>G	ENST00000518568.1	-	1	2281	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	360						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAGGAAGAGGCAGCGTACAAA	0.408																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(1078-1080)ctG>ctC		solute carrier family 10, member 5							76.0	73.0	74.0					8																	82606128		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606128C>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.1080G>C	8.37:g.82606128C>G							p.L360L	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	2281	-			360					B2RN26	Silent	SNP	ENST00000518568.1	37	c.1080G>C	CCDS34915.1																																																																																				0.408	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		23	40	0	0	0	1	0	23	40				
UBR5	51366	broad.mit.edu	37	8	103312275	103312275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312275G>T	ENST00000520539.1	-	23	3665	c.3059C>A	c.(3058-3060)cCc>cAc	p.P1020H	UBR5_ENST00000220959.4_Missense_Mutation_p.P1020H|UBR5_ENST00000521922.1_Missense_Mutation_p.P1014H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1020					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGGAGCTATGGGGGGTGAAAC	0.478																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(3058-3060)cCc>cAc		ubiquitin protein ligase E3 component n-recognin 5							85.0	86.0	86.0					8																	103312275		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103312275G>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3059C>A	8.37:g.103312275G>T	ENSP00000429084:p.Pro1020His					UBR5_ENST00000220959.4_Missense_Mutation_p.P1020H|UBR5_ENST00000521922.1_Missense_Mutation_p.P1014H	p.P1020H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		23	3665	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1020					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3059C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054486	0.55218	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49432	0.78;0.78;0.78	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.64799	-0.6322	10	0.54805	T	0.06	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	1014;1020	E7EMW7;O95071	.;UBR5_HUMAN	H	1020;1020;1014	ENSP00000429084:P1020H;ENSP00000220959:P1020H;ENSP00000427819:P1014H	ENSP00000220959:P1020H	P	-	2	0	UBR5	103381451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.173000	0.94815	2.810000	0.96702	0.585000	0.79938	CCC		0.478	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		9	117	1	0	3.86212e-05	1	4.30401e-05	9	117				
DEAF1	10522	broad.mit.edu	37	11	686916	686916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:686916C>T	ENST00000382409.3	-	5	1230	c.746G>A	c.(745-747)aGt>aAt	p.S249N	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	249	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCAGTCCTTACTGCTGGCTCT	0.602																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(745-747)aGt>aAt		DEAF1 transcription factor							232.0	157.0	182.0					11																	686916		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:686916C>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.746G>A	11.37:g.686916C>T	ENSP00000371846:p.Ser249Asn					DEAF1_ENST00000338675.6_Intron	p.S249N	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	5	1230	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	249			SAND.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.746G>A	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129823	0.94473	.	.	ENSG00000177030	ENST00000382409;ENST00000359958;ENST00000388804	T	0.65364	-0.15	4.95	4.95	0.65309	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	T	0.79986	0.4541	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82900	-0.0228	10	0.87932	D	0	-24.286	17.3225	0.87239	0.0:1.0:0.0:0.0	.	249	O75398	DEAF1_HUMAN	N	249;235;172	ENSP00000371846:S249N	ENSP00000353043:S235N	S	-	2	0	DEAF1	676916	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	7.566000	0.82347	2.440000	0.82611	0.643000	0.83706	AGT		0.602	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		5	39	0	0	0	1	0	5	39				
RNF31	55072	broad.mit.edu	37	14	24621172	24621172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24621172G>A	ENST00000324103.6	+	11	2421	c.2101G>A	c.(2101-2103)Gtg>Atg	p.V701M	RNF31_ENST00000559275.1_Missense_Mutation_p.V550M|RNF31_ENST00000382687.3_Missense_Mutation_p.V550M|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.V176M	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	701					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGAGTGTGCCGTGTGTGGCTG	0.602																																						ENST00000558468.1																			0											c.(526-528)Gtg>Atg									40.0	53.0	49.0					14																	24621172		1999	4157	6156	SO:0001583	missense	0							g.chr14:24621172G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2101G>A	14.37:g.24621172G>A	ENSP00000315112:p.Val701Met					RNF31_ENST00000382687.3_Missense_Mutation_p.V550M|RNF31_ENST00000324103.6_Missense_Mutation_p.V701M|RNF31_ENST00000559275.1_Missense_Mutation_p.V550M	p.V176M							3	526	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.526G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455421	0.63401	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.51325	0.71;0.71	5.83	5.83	0.93111	Zinc finger, RING-type (1);	0.244243	0.33309	N	0.005052	T	0.65842	0.2730	L	0.50333	1.59	0.38454	D	0.947045	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.947;0.997;0.999	T	0.68273	-0.5452	10	0.87932	D	0	-17.2774	18.8899	0.92395	0.0:0.0:1.0:0.0	.	460;701;550	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	M	143;701;550	ENSP00000315112:V701M;ENSP00000372134:V550M	ENSP00000315112:V701M	V	+	1	0	RNF31	23691012	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	2.841000	0.48223	2.769000	0.95229	0.655000	0.94253	GTG		0.602	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		11	22	0	0	0	1	0	11	22				
ZNF347	84671	broad.mit.edu	37	19	53643864	53643864	+	Silent	SNP	G	G	A	rs151303414		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53643864G>A	ENST00000334197.7	-	5	2285	c.2217C>T	c.(2215-2217)tgC>tgT	p.C739C	ZNF347_ENST00000601469.2_Silent_p.C740C|ZNF347_ENST00000452676.2_Silent_p.C740C|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	739					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACACTCATTGCATTTGTAAG	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2218-2220)tgC>tgT		zinc finger protein 347							172.0	159.0	163.0					19																	53643864		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643864G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2217C>T	19.37:g.53643864G>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C740C|ZNF347_ENST00000334197.7_Silent_p.C739C	p.C740C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2646	-			739					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.2220C>T	CCDS33097.1																																																																																				0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		71	110	0	0	0	1	0	71	110				
HMGCR	3156	broad.mit.edu	37	5	74650486	74650486	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74650486C>T	ENST00000287936.4	+	12	1683	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	HMGCR_ENST00000511206.1_Silent_p.L509L|HMGCR_ENST00000343975.5_Silent_p.L509L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	509	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTCTTCTCTCCAGTACCTAC	0.378																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1525-1527)ctC>ctT		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						103.0	96.0	99.0					5																	74650486		2203	4300	6503	SO:0001819	synonymous_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74650486C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1527C>T	5.37:g.74650486C>T						HMGCR_ENST00000511206.1_Silent_p.L509L|HMGCR_ENST00000343975.5_Silent_p.L509L	p.L509L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	12	1683	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	509			Catalytic.		B7Z3Y9|Q8N190	Silent	SNP	ENST00000287936.4	37	c.1527C>T	CCDS4027.1																																																																																				0.378	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			27	32	0	0	0	1	0	27	32				
PDDC1	347862	broad.mit.edu	37	11	771345	771345	+	Missense_Mutation	SNP	C	C	T	rs576751525		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:771345C>T	ENST00000319863.8	-	6	553	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PDDC1_ENST00000524550.1_Missense_Mutation_p.A142T|PDDC1_ENST00000526325.1_3'UTR|PDDC1_ENST00000442059.2_Missense_Mutation_p.A128T|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Missense_Mutation_p.A178T	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	178						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAAGCAGGCGCCCGAATCC	0.697													c|||	1	0.000199681	0.0	0.0	5008	,	,		15333	0.0		0.0	False		,,,				2504	0.001					ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(532-534)Gcc>Acc		Parkinson disease 7 domain containing 1							19.0	22.0	21.0					11																	771345		2194	4295	6489	SO:0001583	missense	347862					extracellular region		g.chr11:771345C>T	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.532G>A	11.37:g.771345C>T	ENSP00000321691:p.Ala178Thr					PDDC1_ENST00000524550.1_Missense_Mutation_p.A142T|PDDC1_ENST00000526325.1_3'UTR|PDDC1_ENST00000442059.2_Missense_Mutation_p.A128T|PDDC1_ENST00000397472.2_Missense_Mutation_p.A178T|PDDC1_ENST00000529966.1_5'UTR	p.A178T	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	553	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	178					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.532G>A	CCDS7713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.943290|3.943290	0.73672|0.73672	.|.	.|.	ENSG00000177225|ENSG00000177225	ENST00000528309;ENST00000397472;ENST00000319863;ENST00000526650;ENST00000442059;ENST00000524550|ENST00000465313	.|.	.|.	.|.	4.44|4.44	4.44|4.44	0.53790|0.53790	ThiJ/PfpI (1);|.	0.196678|.	0.43579|.	D|.	0.000542|.	T|T	0.78735|0.78735	0.4330|0.4330	M|M	0.84948|0.84948	2.725|2.725	0.42879|0.42879	D|D	0.994166|0.994166	D;D;D;D|.	0.76494|.	0.964;0.996;0.999;0.997|.	P;P;D;D|.	0.68765|.	0.6;0.908;0.915;0.96|.	T|T	0.82374|0.82374	-0.0489|-0.0489	9|5	0.87932|.	D|.	0|.	-13.6804|-13.6804	16.198|16.198	0.82043|0.82043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;128;178;178|.	B7ZKW3;B7Z1J9;Q8NB37-2;Q8NB37|.	.;.;.;PDDC1_HUMAN|.	T|H	116;178;178;102;128;142|28	.|.	ENSP00000321691:A178T|.	A|R	-|-	1|2	0|0	PDDC1|PDDC1	761345|761345	0.997000|0.997000	0.39634|0.39634	0.739000|0.739000	0.30968|0.30968	0.260000|0.260000	0.26232|0.26232	5.959000|5.959000	0.70339|0.70339	2.193000|2.193000	0.70182|0.70182	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.697	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		6	12	0	0	0	1	0	6	12				
COL4A6	1288	broad.mit.edu	37	X	107420134	107420134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107420134C>A	ENST00000372216.4	-	28	2726	c.2626G>T	c.(2626-2628)Gga>Tga	p.G876*	COL4A6_ENST00000545689.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000394872.2_Nonsense_Mutation_p.G876*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.G875*	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	876	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTCAGTCCTACTAGGCCT	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2626-2628)Gga>Tga		collagen, type IV, alpha 6							131.0	131.0	131.0					X																	107420134		2203	4300	6503	SO:0001587	stop_gained	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107420134C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2626G>T	X.37:g.107420134C>A	ENSP00000361290:p.Gly876*					COL4A6_ENST00000372216.4_Nonsense_Mutation_p.G876*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.G875*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.G875*	p.G876*			Q14031	CO4A6_HUMAN			28	2857	-			876			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Nonsense_Mutation	SNP	ENST00000372216.4	37	c.2626G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	37	6.350531	0.97498	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	4.28	4.28	0.50868	.	0.000000	0.43260	D	0.000595	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9041	0.86122	0.0:1.0:0.0:0.0	.	.	.	.	X	876;875;876;875;875;875	.	ENSP00000334733:G875X	G	-	1	0	COL4A6	107306790	0.998000	0.40836	0.064000	0.19789	0.001000	0.01503	5.147000	0.64851	2.378000	0.81104	0.436000	0.28706	GGA		0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			18	213	1	0	1.00905e-13	1	1.28195e-13	18	213				
AGBL5	60509	broad.mit.edu	37	2	27275942	27275942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27275942C>T	ENST00000360131.4	+	2	275	c.116C>T	c.(115-117)gCg>gTg	p.A39V	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.A39V|AGBL5-AS1_ENST00000444217.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	39				GAS -> CLL (in Ref. 5; AAI31499). {ECO:0000305}.	protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGTGGGGCGTCAGCCCTG	0.542																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(115-117)gCg>gTg		ATP/GTP binding protein-like 5							101.0	97.0	98.0					2																	27275942		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27275942C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.116C>T	2.37:g.27275942C>T	ENSP00000353249:p.Ala39Val					AGBL5_ENST00000323064.8_Missense_Mutation_p.A39V	p.A39V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			2	275	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		39	GAS -> CLL (in Ref. 5; AAI31499).				A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.116C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293150	0.23564	.	.	ENSG00000084693	ENST00000421915;ENST00000453161;ENST00000451003;ENST00000323064;ENST00000360131	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	4.53	3.61	0.41365	.	0.377447	0.29609	N	0.011670	T	0.65396	0.2687	N	0.01109	-1.01	0.22253	N	0.999256	B;B;B	0.32653	0.127;0.379;0.379	B;B;B	0.27170	0.035;0.077;0.048	T	0.60332	-0.7284	10	0.30078	T	0.28	-2.197	14.6667	0.68913	0.0:0.8405:0.1595:0.0	.	39;39;39	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	V	39	ENSP00000395266:A39V;ENSP00000394730:A39V;ENSP00000407584:A39V;ENSP00000323681:A39V;ENSP00000353249:A39V	ENSP00000323681:A39V	A	+	2	0	AGBL5	27129446	0.121000	0.22262	0.250000	0.24296	0.697000	0.40408	0.817000	0.27281	2.342000	0.79632	0.561000	0.74099	GCG		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		26	30	0	0	0	1	0	26	30				
COL6A3	1293	broad.mit.edu	37	2	238277674	238277674	+	Missense_Mutation	SNP	C	C	T	rs374493032		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238277674C>T	ENST00000295550.4	-	10	4884	c.4432G>A	c.(4432-4434)Gtg>Atg	p.V1478M	COL6A3_ENST00000346358.4_Missense_Mutation_p.V1278M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1272M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1272M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1277M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V871M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1478	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAACTGCACGACCCCAACT	0.527																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4432-4434)Gtg>Atg		collagen, type VI, alpha 3		C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	65.0	62.0	63.0		4432,2611,3814	3.3	0.8	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1478/3178,871/2571,1272/2972	238277674	1,13005	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277674C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4432G>A	2.37:g.238277674C>T	ENSP00000295550:p.Val1478Met					COL6A3_ENST00000347401.3_Missense_Mutation_p.V1277M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1272M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1278M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1272M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V871M	p.V1478M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4884	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1478			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4432G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987333	0.35036	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.19	3.28	0.37604	von Willebrand factor, type A (3);	0.135257	0.32719	N	0.005726	D	0.92770	0.7701	M	0.77486	2.375	0.52501	D	0.999954	D;D;D	0.89917	1.0;0.999;0.996	D;D;P	0.74674	0.984;0.952;0.825	D	0.93718	0.7030	10	0.72032	D	0.01	.	15.3739	0.74590	0.0:0.7366:0.2634:0.0	.	871;1272;1478	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	1478;1277;1272;871;1272;1278	ENSP00000295550:V1478M;ENSP00000315609:V1277M;ENSP00000315873:V1272M;ENSP00000418285:V871M;ENSP00000386844:V1272M;ENSP00000295546:V1278M	ENSP00000295550:V1478M	V	-	1	0	COL6A3	237942413	0.976000	0.34144	0.818000	0.32626	0.255000	0.26057	3.166000	0.50785	1.160000	0.42584	0.650000	0.86243	GTG		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		15	27	0	0	0	1	0	15	27				
AP2A2	161	broad.mit.edu	37	11	977142	977142	+	Missense_Mutation	SNP	G	G	A	rs549459789		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:977142G>A	ENST00000448903.2	+	5	662	c.521G>A	c.(520-522)cGc>cAc	p.R174H	AP2A2_ENST00000332231.5_Missense_Mutation_p.R174H|AP2A2_ENST00000534328.1_Missense_Mutation_p.R174H	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	174					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTTGCTGCGCCTGTACAGG	0.587																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(520-522)cGc>cAc		adaptor-related protein complex 2, alpha 2 subunit							64.0	74.0	71.0					11																	977142		2147	4244	6391	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:977142G>A	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.521G>A	11.37:g.977142G>A	ENSP00000413234:p.Arg174His					AP2A2_ENST00000534328.1_Missense_Mutation_p.R174H|AP2A2_ENST00000332231.5_Missense_Mutation_p.R174H	p.R174H	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	662	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	174					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.521G>A	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088693	0.36855	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000531548;ENST00000534485;ENST00000329626	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	2.96	2.05	0.26809	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.44128	-0.9348	10	0.59425	D	0.04	-10.9019	10.6704	0.45755	0.0978:0.0:0.9022:0.0	.	67;174;174	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	H	14;174;174;174;174;174;180;164;47	ENSP00000437228:R14H;ENSP00000436059:R174H;ENSP00000413234:R174H;ENSP00000327694:R174H;ENSP00000433498:R180H;ENSP00000435756:R164H	ENSP00000328024:R47H	R	+	2	0	AP2A2	967142	1.000000	0.71417	0.298000	0.25002	0.004000	0.04260	9.514000	0.98013	0.835000	0.34877	-0.229000	0.12294	CGC		0.587	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		8	21	0	0	0	1	0	8	21				
ANKMY2	57037	broad.mit.edu	37	7	16650315	16650315	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16650315T>C	ENST00000306999.2	-	6	848	c.605A>G	c.(604-606)gAt>gGt	p.D202G		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	202						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACAAATCAAATCCATCACTCT	0.383																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(604-606)gAt>gGt		ankyrin repeat and MYND domain containing 2							141.0	129.0	133.0					7																	16650315		2203	4300	6503	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16650315T>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.605A>G	7.37:g.16650315T>C	ENSP00000303570:p.Asp202Gly						p.D202G	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	6	848	-	Lung NSC(10;0.103)|all_lung(11;0.204)		202					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.605A>G	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933924	0.52866	.	.	ENSG00000106524	ENST00000306999	T	0.72167	-0.63	5.78	5.78	0.91487	.	0.043602	0.85682	D	0.000000	T	0.67813	0.2933	L	0.55834	1.745	0.58432	D	0.999998	B	0.13145	0.007	B	0.11329	0.006	T	0.63664	-0.6586	10	0.44086	T	0.13	-25.1685	16.0998	0.81163	0.0:0.0:0.0:1.0	.	202	Q8IV38	ANKY2_HUMAN	G	202	ENSP00000303570:D202G	ENSP00000303570:D202G	D	-	2	0	ANKMY2	16616840	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	2.199000	0.70637	0.533000	0.62120	GAT		0.383	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		10	118	0	0	0	1	0	10	118				
ATRX	546	broad.mit.edu	37	X	76776885	76776885	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776885G>T	ENST00000373344.5	-	33	7281	c.7067C>A	c.(7066-7068)gCt>gAt	p.A2356D	ATRX_ENST00000395603.3_Missense_Mutation_p.A2318D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2356					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCTTACTACAGCTGAAATTAT	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(7066-7068)gCt>gAt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						149.0	123.0	132.0					X																	76776885		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76776885G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7067C>A	X.37:g.76776885G>T	ENSP00000362441:p.Ala2356Asp					ATRX_ENST00000395603.3_Missense_Mutation_p.A2318D|ATRX_ENST00000480283.1_5'UTR	p.A2356D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			33	7281	-			2356					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.7067C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	7.778	0.708859	0.15239	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92249	-3.0;-3.0	5.06	5.06	0.68205	.	0.443693	0.23112	N	0.051794	D	0.85017	0.5601	N	0.19112	0.55	0.80722	D	1	B;B	0.30281	0.275;0.01	B;B	0.31337	0.128;0.004	T	0.81743	-0.0793	10	0.15066	T	0.55	.	13.9927	0.64376	0.0:0.1483:0.8517:0.0	.	2318;2356	P46100-4;P46100	.;ATRX_HUMAN	D	2356;2318	ENSP00000362441:A2356D;ENSP00000378967:A2318D	ENSP00000362441:A2356D	A	-	2	0	ATRX	76663541	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	2.086000	0.62901	0.513000	0.50165	GCT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	68	1	0	2.0095e-06	1	2.31757e-06	6	68				
LRRC37A6P	387646	broad.mit.edu	37	10	27536594	27536594	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27536594C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTTTCCACCTCTTTGAAGTGC	0.532																																						ENST00000574842.1																			0																																																			0							g.chr10:27536594C>A																													10.37:g.27536594C>A						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.532	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			5	20	1	0	0.0215528	1	0.0221649	5	20				
PHF11	51131	broad.mit.edu	37	13	50087244	50087244	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50087244C>A	ENST00000378319.3	+	3	307	c.266C>A	c.(265-267)cCt>cAt	p.P89H	PHF11_ENST00000488958.1_Missense_Mutation_p.P50H|PHF11_ENST00000357596.3_Missense_Mutation_p.P50H	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCACTTAATCCTGATAGAAGT	0.363																																						ENST00000357596.3																			0				large_intestine(3)|lung(1)	4						c.(148-150)cCt>cAt		PHD finger protein 11							125.0	123.0	123.0					13																	50087244		2203	4300	6503	SO:0001583	missense	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50087244C>A	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.266C>A	13.37:g.50087244C>A	ENSP00000367570:p.Pro89His					PHF11_ENST00000378319.3_Missense_Mutation_p.P89H|PHF11_ENST00000488958.1_Missense_Mutation_p.P50H	p.P50H	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)	4	425	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	89					Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	c.149C>A	CCDS31975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.352|4.352	0.064864|0.064864	0.08388|0.08388	.|.	.|.	ENSG00000136147|ENSG00000136147	ENST00000426879|ENST00000378319;ENST00000496612;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	.|T;T;T;T;T;T	.|0.79141	.|-0.72;-0.28;-0.7;-1.24;-0.72;-0.7	4.63|4.63	-9.26|-9.26	0.00662|0.00662	.|.	.|5.346840	.|0.00447	.|N	.|0.000088	T|T	0.59622|0.59622	0.2207|0.2207	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.001;0.003	T|T	0.49862|0.49862	-0.8894|-0.8894	5|10	.|0.28530	.|T	.|0.3	8.5545|8.5545	1.7359|1.7359	0.02941|0.02941	0.1235:0.2427:0.196:0.4378|0.1235:0.2427:0.196:0.4378	.|.	.|89;89	.|B4DTX8;Q9UIL8	.|.;PHF11_HUMAN	M|H	44|89;21;50;50;50;50	.|ENSP00000367570:P89H;ENSP00000419229:P21H;ENSP00000350209:P50H;ENSP00000420129:P50H;ENSP00000405227:P50H;ENSP00000417539:P50H	.|ENSP00000350209:P50H	L|P	+|+	1|2	2|0	PHF11|PHF11	48985245|48985245	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.070000|-3.070000	0.00619|0.00619	-3.375000|-3.375000	0.00176|0.00176	-1.498000|-1.498000	0.00962|0.00962	CTG|CCT		0.363	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		4	43	1	0	0.00909568	1	0.00947522	4	43				
TOPBP1	11073	broad.mit.edu	37	3	133358811	133358811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133358811G>A	ENST00000260810.5	-	13	2356	c.2225C>T	c.(2224-2226)aCt>aTt	p.T742I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	742					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACCTTCTTTAGTTGAATTTTC	0.363								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2224-2226)aCt>aTt	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							64.0	60.0	61.0					3																	133358811		1818	4065	5883	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133358811G>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2225C>T	3.37:g.133358811G>A	ENSP00000260810:p.Thr742Ile						p.T742I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			13	2356	-			742					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.2225C>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	4.121	0.020720	0.08006	.	.	ENSG00000163781	ENST00000260810	T	0.12255	2.7	5.59	2.59	0.31030	BRCT (1);	0.795939	0.12047	N	0.504422	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.41556	-0.9502	10	0.23302	T	0.38	.	5.9337	0.19152	0.1508:0.0:0.4616:0.3876	.	742	Q92547	TOPB1_HUMAN	I	742	ENSP00000260810:T742I	ENSP00000260810:T742I	T	-	2	0	TOPBP1	134841501	0.001000	0.12720	0.073000	0.20177	0.065000	0.16274	0.648000	0.24828	0.647000	0.30713	0.650000	0.86243	ACT		0.363	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		16	25	0	0	0	1	0	16	25				
C12orf56	115749	broad.mit.edu	37	12	64746765	64746765	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64746765A>C	ENST00000543942.2	-	2	950	c.324T>G	c.(322-324)tcT>tcG	p.S108S	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.S108S|snoU13_ENST00000459220.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	108										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AAACGGTTGAAGAATAGATGA	0.338																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(322-324)tcT>tcG		chromosome 12 open reading frame 56							124.0	117.0	119.0					12																	64746765		1832	4083	5915	SO:0001819	synonymous_variant	115749							g.chr12:64746765A>C		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.324T>G	12.37:g.64746765A>C						C12orf56_ENST00000333722.5_Silent_p.S108S|RPS11P6_ENST00000535684.1_RNA	p.S108S	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	2	950	-			108						Silent	SNP	ENST00000543942.2	37	c.324T>G																																																																																					0.338	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		5	57	0	0	0	1	0	5	57				
AOX1	316	broad.mit.edu	37	2	201531428	201531428	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201531428G>C	ENST00000374700.2	+	32	3803	c.3562G>C	c.(3562-3564)Gtc>Ctc	p.V1188L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1188					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACAGACATTGTCATGGATGT	0.383																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3562-3564)Gtc>Ctc		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						101.0	95.0	97.0					2																	201531428		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201531428G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3562G>C	2.37:g.201531428G>C	ENSP00000363832:p.Val1188Leu					AOX1_ENST00000485106.1_3'UTR	p.V1188L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			32	3803	+			1188					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3562G>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491340	0.64074	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.42131	0.98;0.98;0.98	5.09	4.11	0.48088	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.118844	0.56097	D	0.000027	T	0.34629	0.0904	L	0.37697	1.125	0.80722	D	1	B	0.14805	0.011	B	0.24541	0.054	T	0.10753	-1.0616	10	0.31617	T	0.26	-28.8085	13.5621	0.61795	0.0806:0.0:0.9194:0.0	.	1188	Q06278	ADO_HUMAN	L	1188;74;28	ENSP00000363832:V1188L;ENSP00000260930:V74L;ENSP00000413326:V28L	ENSP00000260930:V74L	V	+	1	0	AOX1	201239673	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.184000	0.65070	1.351000	0.45789	0.467000	0.42956	GTC		0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		7	53	0	0	0	1	0	7	53				
SUPT6H	6830	broad.mit.edu	37	17	27014145	27014145	+	Missense_Mutation	SNP	G	G	A	rs539917385		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27014145G>A	ENST00000314616.6	+	22	3023	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V914I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	914	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGACAGGCCGTCTCCCTGGC	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18288	0.0		0.0	False		,,,				2504	0.0					ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2740-2742)Gtc>Atc		suppressor of Ty 6 homolog (S. cerevisiae)							96.0	106.0	103.0					17																	27014145		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27014145G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2740G>A	17.37:g.27014145G>A	ENSP00000319104:p.Val914Ile					SUPT6H_ENST00000347486.4_Missense_Mutation_p.V914I	p.V914I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			22	3023	+	Lung NSC(42;0.00431)		914					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.2740G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375620	0.42105	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.82	5.82	0.92795	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	N	0.04705	-0.18	0.80722	D	1	P	0.35872	0.525	B	0.24974	0.057	T	0.23368	-1.0190	9	0.10636	T	0.68	-25.1142	20.1027	0.97880	0.0:0.0:1.0:0.0	.	914	Q7KZ85	SPT6H_HUMAN	I	914	.	ENSP00000319104:V914I	V	+	1	0	SUPT6H	24038272	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	7.740000	0.84986	2.760000	0.94817	0.551000	0.68910	GTC		0.542	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		55	72	0	0	0	1	0	55	72				
LY6G5C	80741	broad.mit.edu	37	6	31646976	31646976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31646976C>T	ENST00000383237.4	-	2	194	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	LY6G5C_ENST00000375860.2_Missense_Mutation_p.R62Q|LY6G5C_ENST00000375858.3_Missense_Mutation_p.R61Q|LY6G5C_ENST00000474395.1_5'UTR			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	64	UPAR/Ly6.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						CAAGAGGCATCGGTAGCAGCG	0.527																																						ENST00000375858.3																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						c.(181-183)cGa>cAa		lymphocyte antigen 6 complex, locus G5C							233.0	209.0	218.0					6																	31646976		1511	2709	4220	SO:0001583	missense	80741					extracellular region		g.chr6:31646976C>T		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.191G>A	6.37:g.31646976C>T	ENSP00000372724:p.Arg64Gln					LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Missense_Mutation_p.R62Q|LY6G5C_ENST00000383237.4_Missense_Mutation_p.R64Q	p.R61Q	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN			2	190	-			64			UPAR/Ly6.		A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Missense_Mutation	SNP	ENST00000383237.4	37	c.182G>A	CCDS34401.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.050949|4.050949	0.75960|0.75960	.|.	.|.	ENSG00000204428|ENSG00000204428	ENST00000375863|ENST00000375860;ENST00000375858;ENST00000383237	.|D;D;D	.|0.86030	.|-2.06;-2.06;-2.06	3.46|3.46	3.46|3.46	0.39613|0.39613	.|.	.|0.000000	.|0.27654	.|N	.|0.018403	T|T	0.80844|0.80844	0.4701|0.4701	L|L	0.34521|0.34521	1.04|1.04	0.30503|0.30503	N|N	0.770191|0.770191	.|D	.|0.89917	.|1.0	.|D	.|0.64144	.|0.922	T|T	0.76143|0.76143	-0.3067|-0.3067	5|10	.|0.49607	.|T	.|0.09	-10.7557|-10.7557	10.6226|10.6226	0.45489|0.45489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64	.|Q5SRR4	.|LY65C_HUMAN	N|Q	139|62;61;64	.|ENSP00000365020:R62Q;ENSP00000365018:R61Q;ENSP00000372724:R64Q	.|ENSP00000365018:R61Q	D|R	-|-	1|2	0|0	LY6G5C|LY6G5C	31754955|31754955	0.159000|0.159000	0.22864|0.22864	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	0.546000|0.546000	0.23284|0.23284	1.943000|1.943000	0.56356|0.56356	0.462000|0.462000	0.41574|0.41574	GAT|CGA		0.527	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			55	92	0	0	0	1	0	55	92				
C3	718	broad.mit.edu	37	19	6697416	6697416	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6697416A>T	ENST00000245907.6	-	21	2827	c.2735T>A	c.(2734-2736)gTc>gAc	p.V912D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	912					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGCAGCCTTGACTTCCACTTC	0.557																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2734-2736)gTc>gAc		complement component 3							109.0	91.0	97.0					19																	6697416		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697416A>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2735T>A	19.37:g.6697416A>T	ENSP00000245907:p.Val912Asp						p.V912D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2827	-			912					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2735T>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994708	0.74703	.	.	ENSG00000125730	ENST00000245907	T	0.44083	0.93	5.96	5.96	0.96718	.	0.262503	0.37304	N	0.002151	T	0.71298	0.3323	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77930	-0.2403	10	0.87932	D	0	.	15.4272	0.75061	1.0:0.0:0.0:0.0	.	912	P01024	CO3_HUMAN	D	912	ENSP00000245907:V912D	ENSP00000245907:V912D	V	-	2	0	C3	6648416	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	8.395000	0.90188	2.284000	0.76573	0.528000	0.53228	GTC		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		8	38	0	0	0	1	0	8	38				
RRM1	6240	broad.mit.edu	37	11	4123242	4123242	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4123242C>T	ENST00000300738.5	+	2	243	c.39C>T	c.(37-39)gtC>gtT	p.V13V	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	13	ATP-cone. {ECO:0000255|PROSITE- ProRule:PRU00492}.|Allosteric activator binding. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAGAACGAGTCATGTTTGACA	0.318																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(37-39)gtC>gtT		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						161.0	145.0	151.0					11																	4123242		2201	4298	6499	SO:0001819	synonymous_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4123242C>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.39C>T	11.37:g.4123242C>T						RRM1_ENST00000423050.2_5'UTR	p.V13V	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	2	243	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	13			ATP-cone.|Allosteric activator binding (By similarity).		Q9UNN2	Silent	SNP	ENST00000300738.5	37	c.39C>T	CCDS7750.1																																																																																				0.318	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		5	62	0	0	0	1	0	5	62				
MERTK	10461	broad.mit.edu	37	2	112786167	112786167	+	Missense_Mutation	SNP	G	G	A	rs149131360	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112786167G>A	ENST00000295408.4	+	19	2983	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	MERTK_ENST00000421804.2_Missense_Mutation_p.R909H|MERTK_ENST00000409780.1_Missense_Mutation_p.R733H			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	909					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGCACTCCCCGCGCTGCCATC	0.562													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18898	0.0		0.0	False		,,,				2504	0.0					ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46	GRCh37	CM066130	MERTK	M	rs149131360	c.(2725-2727)cGc>cAc		c-mer proto-oncogene tyrosine kinase		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	127.0	126.0	126.0		2726	0.0	0.0	2	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MERTK	NM_006343.2	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	909/1000	112786167	3,13003	2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786167G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2726G>A	2.37:g.112786167G>A	ENSP00000295408:p.Arg909His					MERTK_ENST00000409780.1_Missense_Mutation_p.R733H|MERTK_ENST00000421804.2_Missense_Mutation_p.R909H	p.R909H			Q12866	MERTK_HUMAN			19	2983	+			909					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2726G>A	CCDS2094.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.926	-0.017163	0.07681	4.54E-4	1.16E-4	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	T;T;T;D	0.84070	-0.9;-0.9;-0.9;-1.8	5.47	0.0185	0.14117	.	1.458540	0.04746	N	0.423710	T	0.64057	0.2564	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52756	-0.8533	10	0.31617	T	0.26	-1.4491	7.1409	0.25556	0.3983:0.1155:0.4862:0.0	.	909	Q12866	MERTK_HUMAN	H	909;909;733;233	ENSP00000295408:R909H;ENSP00000389152:R909H;ENSP00000387277:R733H;ENSP00000412660:R233H	ENSP00000295408:R909H	R	+	2	0	MERTK	112502638	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.359000	0.20233	0.299000	0.22661	-0.766000	0.03442	CGC		0.562	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			4	73	0	0	0	1	0	4	73				
SLIT3	6586	broad.mit.edu	37	5	168149937	168149937	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:168149937C>T	ENST00000519560.1	-	22	2831		c.e22+1		SLIT3_ENST00000332966.8_Splice_Site|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Splice_Site	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGTACTCACAGAGTGGAGA	0.488																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.e22+1		slit homolog 3 (Drosophila)							308.0	260.0	276.0					5																	168149937		2203	4300	6503	SO:0001630	splice_region_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168149937C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2411+1G>A	5.37:g.168149937C>T						SLIT3_ENST00000332966.8_Splice_Site|SLIT3_ENST00000404867.3_Splice_Site		NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	2831	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)						A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	ENST00000519560.1	37		CCDS4369.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.691796	0.48097	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9476	0.86233	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLIT3	168082515	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	6.523000	0.73787	1.979000	0.57680	0.282000	0.19409	.		0.488	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Intron	4	82	0	0	0	1	0	4	82				
VPS11	55823	broad.mit.edu	37	11	118939909	118939909	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118939909A>G	ENST00000300793.6	+	2	232	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	64					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCCTGCACATATGGAAGGCCA	0.438																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(190-192)Atg>Gtg		vacuolar protein sorting 11 homolog (S. cerevisiae)							121.0	118.0	119.0					11																	118939909		1920	4126	6046	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118939909A>G	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.190A>G	11.37:g.118939909A>G	ENSP00000475301:p.Met64Val					VPS11_ENST00000527798.1_3'UTR	p.M64V	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	2	232	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	64					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.190A>G																																																																																					0.438	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		10	146	0	0	0	1	0	10	146				
CADPS2	93664	broad.mit.edu	37	7	122526096	122526096	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122526096A>G	ENST00000449022.2	-	1	315	c.296T>C	c.(295-297)tTc>tCc	p.F99S	CADPS2_ENST00000412584.2_Missense_Mutation_p.F99S|CADPS2_ENST00000334010.7_Missense_Mutation_p.F99S|CADPS2_ENST00000313070.7_Missense_Mutation_p.F99S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	99					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTTGGCGTTGAAGGGGTACGC	0.662																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(295-297)tTc>tCc		Ca++-dependent secretion activator 2							22.0	30.0	28.0					7																	122526096		2201	4300	6501	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122526096A>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.296T>C	7.37:g.122526096A>G	ENSP00000398481:p.Phe99Ser					CADPS2_ENST00000313070.7_Missense_Mutation_p.F99S|CADPS2_ENST00000449022.2_Missense_Mutation_p.F99S|CADPS2_ENST00000412584.2_Missense_Mutation_p.F99S	p.F99S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			1	717	-			99					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.296T>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.019603	0.93462	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.90473	0.7016	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.979	D	0.91543	0.5251	10	0.87932	D	0	-9.3276	12.1324	0.53950	1.0:0.0:0.0:0.0	.	99;99	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	S	99;99;99;66;99;99	ENSP00000325581:F99S;ENSP00000333940:F99S;ENSP00000400401:F99S;ENSP00000398481:F99S	ENSP00000325581:F99S	F	-	2	0	CADPS2	122313332	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.427000	0.90275	1.725000	0.51514	0.416000	0.27883	TTC		0.662	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		6	21	0	0	0	1	0	6	21				
GABRA5	2558	broad.mit.edu	37	15	27193350	27193350	+	Silent	SNP	G	G	A	rs372663352		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:27193350G>A	ENST00000335625.5	+	11	2247	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	GABRA5_ENST00000355395.5_Silent_p.P453P|GABRA5_ENST00000400081.3_Silent_p.P453P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	453					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ATAGGGAGCCGGTGATAAAAG	0.468																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1357-1359)ccG>ccA		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	G	,	2,3688		0,2,1843	19.0	20.0	20.0		1359,1359	-10.1	0.1	15		20	0,8152		0,0,4076	no	coding-synonymous,coding-synonymous	GABRA5	NM_000810.3,NM_001165037.1	,	0,2,5919	AA,AG,GG		0.0,0.0542,0.0169	,	453/463,453/463	27193350	2,11840	1845	4076	5921	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193350G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1359G>A	15.37:g.27193350G>A						GABRA5_ENST00000355395.5_Silent_p.P453P|GABRA5_ENST00000400081.3_Silent_p.P453P	p.P453P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	2247	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	453					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.1359G>A	CCDS45194.1																																																																																				0.468	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			9	10	0	0	0	1	0	9	10				
DEGS2	123099	broad.mit.edu	37	14	100616003	100616003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100616003G>T	ENST00000305631.5	-	2	702	c.127C>A	c.(127-129)Ctc>Atc	p.L43I	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCACTTGAGGCGCGGGTCT	0.697																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(127-129)Ctc>Atc		delta(4)-desaturase, sphingolipid 2							20.0	24.0	23.0					14																	100616003		2193	4293	6486	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100616003G>T		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.127C>A	14.37:g.100616003G>T	ENSP00000307126:p.Leu43Ile					DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	p.L43I	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	702	-		Melanoma(154;0.212)	43						Missense_Mutation	SNP	ENST00000305631.5	37	c.127C>A	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266838	0.23136	.	.	ENSG00000168350	ENST00000305631	T	0.32272	1.46	4.4	1.06	0.20224	.	0.068625	0.64402	N	0.000018	T	0.22322	0.0538	L	0.45581	1.43	0.80722	D	1	B	0.18968	0.032	B	0.20184	0.028	T	0.04915	-1.0918	10	0.32370	T	0.25	-34.2345	6.2042	0.20593	0.1674:0.0:0.601:0.2316	.	43	Q6QHC5	DEGS2_HUMAN	I	43	ENSP00000307126:L43I	ENSP00000307126:L43I	L	-	1	0	DEGS2	99685756	0.049000	0.20398	0.392000	0.26245	0.648000	0.38561	0.307000	0.19296	0.264000	0.21851	0.561000	0.74099	CTC		0.697	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		5	17	1	0	0.000602214	1	0.000649039	5	17				
MYO18B	84700	broad.mit.edu	37	22	26165202	26165202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26165202G>A	ENST00000407587.2	+	4	1488	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	MYO18B_ENST00000335473.7_Missense_Mutation_p.S440N|MYO18B_ENST00000536101.1_Missense_Mutation_p.S440N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	440						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCCAGGAAGCCGTGGGCAG	0.632																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1318-1320)aGc>aAc		myosin XVIIIB							17.0	22.0	20.0					22																	26165202		2112	4225	6337	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165202G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1319G>A	22.37:g.26165202G>A	ENSP00000386096:p.Ser440Asn					MYO18B_ENST00000536101.1_Missense_Mutation_p.S440N|MYO18B_ENST00000407587.2_Missense_Mutation_p.S440N	p.S440N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1569	+			440					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1319G>A		.	.	.	.	.	.	.	.	.	.	G	12.77	2.038926	0.35989	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.90069	-2.58;-2.58;-2.61	4.73	-1.49	0.08718	.	0.933821	0.08890	N	0.878783	T	0.82250	0.4996	L	0.54323	1.7	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.68655	-0.5351	10	0.54805	T	0.06	.	1.3384	0.02149	0.2098:0.1266:0.4085:0.2551	.	440;440;440	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	440	ENSP00000441229:S440N;ENSP00000334563:S440N;ENSP00000386096:S440N	ENSP00000334563:S440N	S	+	2	0	MYO18B	24495202	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.018000	0.13422	0.016000	0.14998	0.491000	0.48974	AGC		0.632	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	5	0	0	0	1	0	4	5				
CAPN13	92291	broad.mit.edu	37	2	30980986	30980986	+	Silent	SNP	G	G	A	rs558172065		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30980986G>A	ENST00000295055.8	-	8	968	c.792C>T	c.(790-792)ggC>ggT	p.G264G	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Silent_p.G264G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	264	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTTCTTCCCAGCCCCTTCGGT	0.512																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(790-792)ggC>ggT		calpain 13							36.0	40.0	39.0					2																	30980986		1852	4096	5948	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30980986G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.792C>T	2.37:g.30980986G>A						CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Silent_p.G264G	p.G264G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			8	968	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		264			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.792C>T	CCDS46252.1																																																																																				0.512	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		4	10	0	0	0	1	0	4	10				
IGSF10	285313	broad.mit.edu	37	3	151163978	151163978	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151163978G>T	ENST00000282466.3	-	4	3790	c.3791C>A	c.(3790-3792)tCt>tAt	p.S1264Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1264					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S1264C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458																																						ENST00000282466.3																			1	Substitution - Missense(1)	p.S1264C(1)	urinary_tract(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3790-3792)tCt>tAt		immunoglobulin superfamily, member 10							220.0	203.0	209.0					3																	151163978		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163978G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3791C>A	3.37:g.151163978G>T	ENSP00000282466:p.Ser1264Tyr						p.S1264Y	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3790	-			1264					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3791C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413669	0.42817	.	.	ENSG00000152580	ENST00000282466	T	0.69926	-0.44	5.0	4.12	0.48240	.	0.537909	0.15211	N	0.274451	T	0.54679	0.1873	L	0.34521	1.04	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.53322	-0.8455	10	0.87932	D	0	.	5.086	0.14682	0.0837:0.145:0.6219:0.1494	.	1264	Q6WRI0	IGS10_HUMAN	Y	1264	ENSP00000282466:S1264Y	ENSP00000282466:S1264Y	S	-	2	0	IGSF10	152646668	0.013000	0.17824	0.014000	0.15608	0.023000	0.10783	1.942000	0.40243	2.340000	0.79590	0.591000	0.81541	TCT		0.458	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		46	83	1	0	1.6237e-14	1	2.07233e-14	46	83				
INTS10	55174	broad.mit.edu	37	8	19675794	19675794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19675794G>A	ENST00000397977.3	+	2	536	c.138G>A	c.(136-138)atG>atA	p.M46I	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	46					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGTATGAGATGTACACCATCG	0.587																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(136-138)atG>atA		integrator complex subunit 10							122.0	135.0	130.0					8																	19675794		2172	4262	6434	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19675794G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.138G>A	8.37:g.19675794G>A	ENSP00000381064:p.Met46Ile					INTS10_ENST00000521758.1_3'UTR	p.M46I	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	2	536	+			46					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.138G>A	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377761	0.82682	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	U	0.000000	T	0.58481	0.2125	L	0.44542	1.39	0.80722	D	1	P	0.52692	0.955	P	0.47162	0.54	T	0.62572	-0.6826	9	0.59425	D	0.04	-18.4694	17.6885	0.88262	0.0:0.0:1.0:0.0	.	46	Q9NVR2	INT10_HUMAN	I	46	.	ENSP00000381064:M46I	M	+	3	0	INTS10	19720074	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	8.973000	0.93428	2.577000	0.86979	0.655000	0.94253	ATG		0.587	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		31	82	0	0	0	1	0	31	82				
NLRC3	197358	broad.mit.edu	37	16	3614600	3614600	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3614600C>T	ENST00000301749.7	-	0	743				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCGCCCCCGCGGGTGGCCTC	0.711																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							18.0	23.0	22.0					16																	3614600		1894	4006	5900			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614600C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614600C>T						NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	743	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	16.46	3.130117	0.56721	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.78707	-0.7;-0.73;-0.71;-1.2	4.73	4.73	0.59995	.	0.163089	0.42172	D	0.000751	D	0.83547	0.5278	.	.	.	0.24709	N	0.993212	D	0.89917	1.0	D	0.63957	0.92	T	0.76041	-0.3104	9	0.72032	D	0.01	.	8.9414	0.35731	0.0:0.8983:0.0:0.1017	.	160	C9JLH9	.	H	113;113;113;160;95	ENSP00000301749:R113H;ENSP00000352039:R113H;ENSP00000414415:R160H;ENSP00000323897:R95H	ENSP00000301749:R113H	R	-	2	0	NLRC3	3554601	0.994000	0.37717	0.591000	0.28745	0.597000	0.36814	3.413000	0.52686	2.162000	0.67917	0.655000	0.94253	CGC		0.711	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		16	24	0	0	0	1	0	16	24				
USP10	9100	broad.mit.edu	37	16	84778569	84778569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84778569G>T	ENST00000219473.7	+	4	595	c.482G>T	c.(481-483)aGc>aTc	p.S161I	USP10_ENST00000570191.1_Missense_Mutation_p.S165I|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	161					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGATATTACAGCTATTTGAAA	0.478																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(481-483)aGc>aTc		ubiquitin specific peptidase 10							41.0	38.0	39.0					16																	84778569		1916	4133	6049	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778569G>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.482G>T	16.37:g.84778569G>T	ENSP00000219473:p.Ser161Ile					USP10_ENST00000570191.1_Missense_Mutation_p.S165I|USP10_ENST00000562743.1_3'UTR	p.S161I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	595	+			161					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.482G>T	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634819	0.67130	.	.	ENSG00000103194	ENST00000219473	T	0.08896	3.04	5.17	5.17	0.71159	.	0.262471	0.39544	N	0.001325	T	0.25901	0.0631	M	0.65975	2.015	0.43114	D	0.994821	D;D	0.64830	0.994;0.99	D;P	0.63597	0.916;0.827	T	0.00684	-1.1611	10	0.87932	D	0	-18.6065	15.8288	0.78736	0.0:0.0:1.0:0.0	.	165;161	Q14694-3;Q14694	.;UBP10_HUMAN	I	161	ENSP00000219473:S161I	ENSP00000219473:S161I	S	+	2	0	USP10	83336070	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.189000	0.72051	2.403000	0.81681	0.491000	0.48974	AGC		0.478	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			6	32	1	0	0.00198382	1	0.00210581	6	32				
VWA8	23078	broad.mit.edu	37	13	42161672	42161672	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42161672G>A	ENST00000379310.3	-	42	5315	c.5247C>T	c.(5245-5247)ttC>ttT	p.F1749F		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1749	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CATAGTTCTCGAAGGCTTCCA	0.478																																						ENST00000379310.3																			0											c.(5245-5247)ttC>ttT		von Willebrand factor A domain containing 8							116.0	113.0	114.0					13																	42161672		2060	4196	6256	SO:0001819	synonymous_variant	23078							g.chr13:42161672G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5247C>T	13.37:g.42161672G>A							p.F1749F	NM_015058.1	NP_055873.1					42	5315	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.5247C>T	CCDS41881.1																																																																																				0.478	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		20	35	0	0	0	1	0	20	35				
TANC1	85461	broad.mit.edu	37	2	160074022	160074022	+	Missense_Mutation	SNP	G	G	A	rs372287259		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160074022G>A	ENST00000263635.6	+	20	3496	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T	TANC1_ENST00000454300.1_Missense_Mutation_p.A981T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1087					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACTGCCGCCGCAGGAAGAGG	0.552																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3259-3261)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1		G	THR/ALA,THR/ALA	0,4080		0,0,2040	107.0	116.0	113.0		3235,3259	4.1	0.1	2		113	1,8439		0,1,4219	no	missense,missense	TANC1	NM_001145909.1,NM_033394.2	58,58	0,1,6259	AA,AG,GG		0.0118,0.0,0.0080	benign,benign	1079/1391,1087/1862	160074022	1,12519	2040	4220	6260	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160074022G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3259G>A	2.37:g.160074022G>A	ENSP00000263635:p.Ala1087Thr					TANC1_ENST00000454300.1_Missense_Mutation_p.A981T	p.A1087T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			20	3496	+			1087					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3259G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849400	0.91277	0.0	1.18E-4	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72051	-0.62;-0.37	5.91	4.09	0.47781	Ankyrin repeat-containing domain (3);	0.098040	0.64402	N	0.000001	T	0.71728	0.3374	M	0.80422	2.495	0.80722	D	1	B;B;P	0.40638	0.104;0.085;0.725	B;B;B	0.38616	0.012;0.013;0.277	T	0.74290	-0.3713	10	0.66056	D	0.02	.	12.8088	0.57628	0.1338:0.0:0.8662:0.0	.	1079;981;1087	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	T	981;1087	ENSP00000396339:A981T;ENSP00000263635:A1087T	ENSP00000263635:A1087T	A	+	1	0	TANC1	159782268	1.000000	0.71417	0.082000	0.20525	0.680000	0.39746	5.530000	0.67141	0.822000	0.34565	0.655000	0.94253	GCA		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			42	82	0	0	0	1	0	42	82				
PRSS12	8492	broad.mit.edu	37	4	119203986	119203986	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119203986C>A	ENST00000296498.3	-	12	2602	c.2320G>T	c.(2320-2322)Gga>Tga	p.G774*	PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	774	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TATGCCTTACCTGTGTCACCC	0.433																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.e12+1		protease, serine, 12 (neurotrypsin, motopsin)							338.0	336.0	337.0					4																	119203986		2203	4300	6503	SO:0001630	splice_region_variant	8492					membrane	scavenger receptor activity	g.chr4:119203986C>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2320+1G>T	4.37:g.119203986C>A							p.G774_splice	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			12	2602	-			774			Peptidase S1.		Q9UP16	Splice_Site	SNP	ENST00000296498.3	37	c.2320_splice	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	40	8.272848	0.98737	.	.	ENSG00000164099	ENST00000296498	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9312	0.97120	0.0:1.0:0.0:0.0	.	.	.	.	X	774	.	.	G	-	1	0	PRSS12	119423434	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.476000	0.81055	2.720000	0.93068	0.491000	0.48974	GGA		0.433	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2		Nonsense_Mutation	54	428	1	0	4.17463e-26	1	5.55879e-26	54	428				
C9orf172	389813	broad.mit.edu	37	9	139741107	139741107	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741107C>T	ENST00000436881.1	+	1	2241	c.2241C>T	c.(2239-2241)cgC>cgT	p.R747R	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747										endometrium(2)|large_intestine(1)|lung(6)	9						TCCTGTCGCGCGGCCGCGGCG	0.687																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2239-2241)cgC>cgT		chromosome 9 open reading frame 172							8.0	10.0	9.0					9																	139741107		1807	3959	5766	SO:0001819	synonymous_variant	389813							g.chr9:139741107C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2241C>T	9.37:g.139741107C>T							p.R747R	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2241	+			747						Silent	SNP	ENST00000436881.1	37	c.2241C>T	CCDS48059.1																																																																																				0.687	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		3	10	0	0	0	1	0	3	10				
IBTK	25998	broad.mit.edu	37	6	82933169	82933169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82933169T>C	ENST00000306270.7	-	8	1661	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R	IBTK_ENST00000510291.1_Missense_Mutation_p.K371R|IBTK_ENST00000503631.1_Missense_Mutation_p.K371R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	371					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGAAGCCATCTTCTTGCACTG	0.368																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1111-1113)aAg>aGg		inhibitor of Bruton agammaglobulinemia tyrosine kinase							100.0	89.0	93.0					6																	82933169		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82933169T>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1112A>G	6.37:g.82933169T>C	ENSP00000305721:p.Lys371Arg					IBTK_ENST00000510291.1_Missense_Mutation_p.K371R|IBTK_ENST00000503631.1_Missense_Mutation_p.K371R	p.K371R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	8	1661	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	371					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1112A>G	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423260	0.62733	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.33654	1.52;1.4;1.52	5.11	5.11	0.69529	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.098185	0.64402	D	0.000002	T	0.37839	0.1018	L	0.46741	1.465	0.58432	D	0.999999	D;B;B;B	0.69078	0.997;0.176;0.406;0.176	D;B;B;B	0.75020	0.985;0.079;0.226;0.079	T	0.12451	-1.0547	10	0.18276	T	0.48	-10.7182	13.7445	0.62868	0.0:0.0:0.0:1.0	.	371;371;371;371	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	R	371	ENSP00000305721:K371R;ENSP00000422762:K371R;ENSP00000426405:K371R	ENSP00000305721:K371R	K	-	2	0	IBTK	82989888	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.661000	0.83786	2.047000	0.60756	0.383000	0.25322	AAG		0.368	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		6	52	0	0	0	1	0	6	52				
TTN	7273	broad.mit.edu	37	2	179581942	179581942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179581942C>T	ENST00000591111.1	-	86	24792	c.24568G>A	c.(24568-24570)Gta>Ata	p.V8190I	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7263I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V8507I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12374	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTTTCTACCAAAGTCATC	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25519-25521)Gta>Ata		titin							67.0	68.0	68.0					2																	179581942		1911	4129	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179581942C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24568G>A	2.37:g.179581942C>T	ENSP00000465570:p.Val8190Ile					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7263I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8190I	p.V8507I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		88	25743	-			8190			Ig-like 67.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25519G>A		.	.	.	.	.	.	.	.	.	.	C	11.20	1.567675	0.28003	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.52	4.65	0.58169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58061	0.2096	L	0.45137	1.4	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57997	-0.7714	9	0.87932	D	0	.	10.6296	0.45527	0.0:0.8537:0.0:0.1463	.	8190	Q8WZ42	TITIN_HUMAN	I	7263	ENSP00000343764:V7263I	ENSP00000343764:V7263I	V	-	1	0	TTN	179290187	0.999000	0.42202	0.997000	0.53966	0.973000	0.67179	3.177000	0.50871	1.461000	0.47929	0.655000	0.94253	GTA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	30	0	0	0	1	0	13	30				
OR2D2	120776	broad.mit.edu	37	11	6913227	6913227	+	Nonsense_Mutation	SNP	G	G	A	rs148113613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6913227G>A	ENST00000299459.2	-	1	603	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	169					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTACTGCCTCGGTAGGGTAGC	0.493																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(505-507)Cga>Tga		olfactory receptor, family 2, subfamily D, member 2			stop/ARG	0,4402		0,0,2201	106.0	83.0	91.0		505	3.2	0.3	11	dbSNP_134	91	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained	OR2D2	NM_003700.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		169/309	6913227	1,12993	2201	4296	6497	SO:0001587	stop_gained	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913227G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.505C>T	11.37:g.6913227G>A	ENSP00000299459:p.Arg169*						p.R169*	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	603	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	169					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Nonsense_Mutation	SNP	ENST00000299459.2	37	c.505C>T	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	g	18.10	3.548873	0.65311	0.0	1.16E-4	ENSG00000166368	ENST00000299459	.	.	.	5.12	3.18	0.36537	.	0.991378	0.08182	N	0.985236	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.7948	6.0501	0.19781	0.0862:0.0:0.5715:0.3422	.	.	.	.	X	169	.	ENSP00000299459:R169X	R	-	1	2	OR2D2	6869803	0.107000	0.21998	0.283000	0.24790	0.553000	0.35397	2.705000	0.47127	0.809000	0.34255	0.645000	0.84053	CGA		0.493	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		22	33	0	0	0	1	0	22	33				
BMP6	654	broad.mit.edu	37	6	7862681	7862681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7862681G>A	ENST00000283147.6	+	4	1313	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	385					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAACAGAGTCGTAATCGCTCT	0.597																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(1153-1155)cGt>cAt		bone morphogenetic protein 6							65.0	63.0	63.0					6																	7862681		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7862681G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1154G>A	6.37:g.7862681G>A	ENSP00000283147:p.Arg385His						p.R385H	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			4	1313	+	Ovarian(93;0.0721)		385					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.1154G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216279	0.95104	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.75260	-0.92	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.83875	0.0276	10	0.56958	D	0.05	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	385	P22004	BMP6_HUMAN	H	307;385;348	ENSP00000283147:R385H	ENSP00000283147:R385H	R	+	2	0	BMP6	7807680	1.000000	0.71417	0.644000	0.29465	0.980000	0.70556	7.838000	0.86804	2.735000	0.93741	0.655000	0.94253	CGT		0.597	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		13	41	0	0	0	1	0	13	41				
ABHD17B	51104	broad.mit.edu	37	9	74489728	74489728	+	Missense_Mutation	SNP	G	G	A	rs372210485		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74489728G>A	ENST00000333421.6	-	2	380	c.269C>T	c.(268-270)gCg>gTg	p.A90V	ABHD17B_ENST00000377041.2_Missense_Mutation_p.A90V	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	90						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGTGTATTTCGCATTGGGTGA	0.363																																						ENST00000333421.6																			0											c.(268-270)gCg>gTg		abhydrolase domain containing 17B							187.0	168.0	175.0					9																	74489728		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74489728G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.269C>T	9.37:g.74489728G>A	ENSP00000330222:p.Ala90Val					ABHD17B_ENST00000377041.2_Missense_Mutation_p.A90V	p.A90V	NM_001025780.1	NP_001020951.1					2	380	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.269C>T	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984027	0.93044	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.44881	0.91;0.91	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.91920	3.255	0.80722	D	1	P;P	0.45396	0.776;0.857	B;B	0.38428	0.14;0.273	T	0.68250	-0.5458	10	0.87932	D	0	-7.9202	15.7563	0.78030	0.065:0.0:0.935:0.0	.	90;90	Q5VST6;Q5VST6-2	F108B_HUMAN;.	V	90	ENSP00000366240:A90V;ENSP00000330222:A90V	ENSP00000330222:A90V	A	-	2	0	FAM108B1	73679548	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	1.626000	0.50381	0.655000	0.94253	GCG		0.363	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		13	115	0	0	0	1	0	13	115				
LRP4	4038	broad.mit.edu	37	11	46895013	46895013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46895013G>A	ENST00000378623.1	-	29	4603	c.4361C>T	c.(4360-4362)gCg>gTg	p.A1454V	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1454					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCTGGACGCCTCAATGGT	0.572																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4360-4362)gCg>gTg		low density lipoprotein receptor-related protein 4							75.0	63.0	67.0					11																	46895013		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46895013G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4361C>T	11.37:g.46895013G>A	ENSP00000367888:p.Ala1454Val					LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	p.A1454V	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	29	4603	-			1454					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4361C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608239	0.46527	.	.	ENSG00000134569	ENST00000378623	T	0.80994	-1.44	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);	0.058116	0.64402	D	0.000002	T	0.38295	0.1035	N	0.00119	-2.075	0.46521	D	0.999089	B	0.06786	0.001	B	0.06405	0.002	T	0.58200	-0.7678	10	0.02654	T	1	.	7.743	0.28851	0.189:0.0:0.811:0.0	.	1454	O75096	LRP4_HUMAN	V	1454	ENSP00000367888:A1454V	ENSP00000367888:A1454V	A	-	2	0	LRP4	46851589	1.000000	0.71417	0.992000	0.48379	0.892000	0.51952	7.578000	0.82498	2.793000	0.96121	0.655000	0.94253	GCG		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		27	27	0	0	0	1	0	27	27				
EVPL	2125	broad.mit.edu	37	17	74006603	74006603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74006603G>A	ENST00000301607.3	-	22	2936	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R917*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	895	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGTCCTTCGGATGTCCTCA	0.587																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2683-2685)Cga>Tga		envoplakin							26.0	27.0	27.0					17																	74006603		2203	4300	6503	SO:0001587	stop_gained	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006603G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2683C>T	17.37:g.74006603G>A	ENSP00000301607:p.Arg895*					EVPL_ENST00000586740.1_Nonsense_Mutation_p.R917*	p.R895*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	2936	-			895			Central fibrous rod domain.		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	c.2683C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	37	6.391812	0.97529	.	.	ENSG00000167880	ENST00000301607	.	.	.	5.0	4.0	0.46444	.	0.614918	0.15896	N	0.239304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-7.4869	10.3744	0.44073	0.0:0.1453:0.7039:0.1508	.	.	.	.	X	895	.	ENSP00000301607:R895X	R	-	1	2	EVPL	71518198	0.996000	0.38824	0.486000	0.27416	0.217000	0.24651	3.300000	0.51834	1.181000	0.42912	0.555000	0.69702	CGA		0.587	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		13	15	0	0	0	1	0	13	15				
TRIM59	286827	broad.mit.edu	37	3	160156009	160156009	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160156009T>G	ENST00000309784.4	-	3	1148	c.963A>C	c.(961-963)gaA>gaC	p.E321D	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	321					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACTTCCTTTTCATCCTTAC	0.318																																						ENST00000309784.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(961-963)gaA>gaC		tripartite motif containing 59							69.0	75.0	73.0					3																	160156009		2196	4299	6495	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156009T>G	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.963A>C	3.37:g.160156009T>G	ENSP00000311219:p.Glu321Asp					RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	p.E321D	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	1148	-			321					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.963A>C	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667297	0.29604	.	.	ENSG00000213186	ENST00000309784	T	0.23754	1.89	5.55	1.49	0.22878	.	0.664389	0.16100	N	0.229626	T	0.15305	0.0369	L	0.36672	1.1	0.31326	N	0.685394	B	0.09022	0.002	B	0.04013	0.001	T	0.11616	-1.0580	9	.	.	.	-0.482	3.6565	0.08222	0.1196:0.0706:0.247:0.5628	.	321	Q8IWR1	TRI59_HUMAN	D	321	ENSP00000311219:E321D	.	E	-	3	2	TRIM59	161638703	0.801000	0.28930	1.000000	0.80357	0.933000	0.57130	0.635000	0.24629	0.903000	0.36546	0.459000	0.35465	GAA		0.318	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		40	52	0	0	0	1	0	40	52				
RAB19	401409	broad.mit.edu	37	7	140125904	140125904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140125904T>C	ENST00000356407.3	+	3	676	c.608T>C	c.(607-609)gTt>gCt	p.V203A	RAB19_ENST00000275874.5_Missense_Mutation_p.V250A|RAB19_ENST00000537763.1_Missense_Mutation_p.V203A			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	203					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCAGCCCCGTTCTTATGGCC	0.577																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(748-750)gTt>gCt		RAB19, member RAS oncogene family							66.0	59.0	62.0					7																	140125904		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125904T>C		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.608T>C	7.37:g.140125904T>C	ENSP00000348778:p.Val203Ala					RAB19_ENST00000356407.3_Missense_Mutation_p.V203A|RAB19_ENST00000537763.1_Missense_Mutation_p.V203A	p.V250A			A4D1S5	RAB19_HUMAN			5	947	+	Melanoma(164;0.0142)		203					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.749T>C	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306666	0.60305	.	.	ENSG00000146955	ENST00000275874;ENST00000537763;ENST00000356407	T;T;T	0.64085	-0.08;0.03;0.03	5.69	5.69	0.88448	.	0.263284	0.36034	N	0.002835	T	0.39279	0.1072	N	0.08118	0	0.31206	N	0.699205	P	0.39665	0.682	B	0.31946	0.138	T	0.44726	-0.9309	9	.	.	.	.	15.9416	0.79758	0.0:0.0:0.0:1.0	.	203	A4D1S5	RAB19_HUMAN	A	250;203;203	ENSP00000275874:V250A;ENSP00000440167:V203A;ENSP00000348778:V203A	.	V	+	2	0	RAB19	139772373	0.984000	0.35163	0.006000	0.13384	0.101000	0.19017	4.635000	0.61332	2.170000	0.68504	0.459000	0.35465	GTT		0.577	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			9	94	0	0	0	1	0	9	94				
DCAKD	79877	broad.mit.edu	37	17	43111732	43111732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43111732G>A	ENST00000452796.2	-	2	394	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	DCAKD_ENST00000310604.4_Missense_Mutation_p.R47W|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.R47W|DCAKD_ENST00000342350.5_Missense_Mutation_p.R47W			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	47	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACGATGCGCCGGTGGGCAGGG	0.617																																						ENST00000452796.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(139-141)Cgg>Tgg		dephospho-CoA kinase domain containing							58.0	50.0	53.0					17																	43111732		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43111732G>A	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.139C>T	17.37:g.43111732G>A	ENSP00000413483:p.Arg47Trp					DCAKD_ENST00000588499.1_Missense_Mutation_p.R47W|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000342350.5_Missense_Mutation_p.R47W|DCAKD_ENST00000310604.4_Missense_Mutation_p.R47W	p.R47W			Q8WVC6	DCAKD_HUMAN			2	394	-		Prostate(33;0.155)	47			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.139C>T	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537312	0.65085	.	.	ENSG00000172992	ENST00000342350;ENST00000452796;ENST00000310604	T;T;T	0.46819	0.86;0.86;0.92	5.04	4.05	0.47172	.	0.830523	0.11437	N	0.564153	T	0.60392	0.2265	M	0.77712	2.385	0.41445	D	0.987948	P;D	0.63880	0.926;0.993	B;P	0.56088	0.276;0.791	T	0.63681	-0.6582	10	0.72032	D	0.01	-28.7549	6.9457	0.24518	0.1512:0.1461:0.7026:0.0	.	47;47	Q8WVC6-2;Q8WVC6	.;DCAKD_HUMAN	W	47	ENSP00000341504:R47W;ENSP00000413483:R47W;ENSP00000308515:R47W	ENSP00000308515:R47W	R	-	1	2	DCAKD	40467258	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	0.709000	0.25734	2.619000	0.88677	0.561000	0.74099	CGG		0.617	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		6	30	0	0	0	1	0	6	30				
MET	4233	broad.mit.edu	37	7	116436105	116436105	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116436105C>A	ENST00000318493.6	+	21	4341	c.4154C>A	c.(4153-4155)tCt>tAt	p.S1385Y	MET_ENST00000539704.1_Missense_Mutation_p.S237Y|MET_ENST00000397752.3_Missense_Mutation_p.S1367Y			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCGTATCCTTCTCTGTTGTCA	0.468			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(4099-4101)tCt>tAt		met proto-oncogene							199.0	180.0	186.0					7																	116436105		2006	4193	6199	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116436105C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4154C>A	7.37:g.116436105C>A	ENSP00000317272:p.Ser1385Tyr					MET_ENST00000318493.6_Missense_Mutation_p.S1385Y|MET_ENST00000539704.1_Missense_Mutation_p.S237Y	p.S1367Y	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		21	4300	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1367			Interaction with RANBP9.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.4100C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360483	0.95877	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.77877	-0.85;-0.86;-1.13	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.88157	0.6361	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.971	D;P	0.71414	0.973;0.602	D	0.87967	0.2734	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1385;1367	P08581-2;P08581	.;MET_HUMAN	Y	1367;1385;237	ENSP00000380860:S1367Y;ENSP00000317272:S1385Y;ENSP00000445020:S237Y	ENSP00000317272:S1385Y	S	+	2	0	MET	116223341	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.689000	0.68234	2.865000	0.98341	0.655000	0.94253	TCT		0.468	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			143	104	1	0	5.35463e-67	1	7.24852e-67	143	104				
CEP192	55125	broad.mit.edu	37	18	13056133	13056133	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056133G>T	ENST00000325971.8	+	17	3349	c.1756G>T	c.(1756-1758)Gcc>Tcc	p.A586S	CEP192_ENST00000430049.2_Missense_Mutation_p.A707S|CEP192_ENST00000506447.1_Missense_Mutation_p.A1182S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	586					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTGGGGTCAGCCACATCACA	0.532																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3544-3546)Gcc>Tcc		centrosomal protein 192kDa							59.0	61.0	60.0					18																	13056133		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13056133G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1756G>T	18.37:g.13056133G>T	ENSP00000317156:p.Ala586Ser					CEP192_ENST00000325971.8_Missense_Mutation_p.A586S|CEP192_ENST00000430049.2_Missense_Mutation_p.A707S	p.A1182S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3624	+			777					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3544G>T		.	.	.	.	.	.	.	.	.	.	G	9.980	1.227780	0.22542	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.24151	1.87;1.87;1.87	4.71	-0.766	0.11020	.	0.844564	0.10294	N	0.692003	T	0.13713	0.0332	L	0.34521	1.04	0.09310	N	1	B;B;B	0.14805	0.001;0.001;0.011	B;B;B	0.15484	0.003;0.008;0.013	T	0.37957	-0.9683	10	0.07813	T	0.8	-0.0406	4.4727	0.11720	0.1806:0.0:0.3896:0.4297	.	707;1182;586	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	1182;586;586;707	ENSP00000427550:A1182S;ENSP00000317156:A586S;ENSP00000389190:A707S	ENSP00000317156:A586S	A	+	1	0	CEP192	13046133	0.002000	0.14202	0.001000	0.08648	0.036000	0.12997	0.769000	0.26604	0.078000	0.16900	-0.261000	0.10672	GCC		0.532	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		15	27	1	0	2.23348e-06	1	2.57349e-06	15	27				
GOLGA3	2802	broad.mit.edu	37	12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133381515G>A	ENST00000450791.2	-	6	1567	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000204726.3_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W			Q08378	GOGA3_HUMAN	golgin A3	462					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1384-1386)Cgg>Tgg		golgin A3							45.0	44.0	44.0					12																	133381515		2203	4291	6494	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133381515G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1384C>T	12.37:g.133381515G>A	ENSP00000410378:p.Arg462Trp					GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W	p.R462W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	7	1942	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	462					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1384C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240122	0.79912	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.45	3.12	0.35913	.	0.357463	0.36167	N	0.002757	T	0.74099	0.3672	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.995;0.995;0.998	P;B;P	0.50708	0.648;0.431;0.62	T	0.73503	-0.3962	10	0.87932	D	0	.	7.5344	0.27702	0.0:0.0804:0.1589:0.7607	.	462;462;462	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	W	462	ENSP00000204726:R462W;ENSP00000410378:R462W;ENSP00000409303:R462W;ENSP00000442143:R462W;ENSP00000442603:R462W	ENSP00000204726:R462W	R	-	1	2	GOLGA3	131891588	1.000000	0.71417	0.973000	0.42090	0.927000	0.56198	2.687000	0.46976	0.376000	0.24707	0.561000	0.74099	CGG		0.612	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		26	26	0	0	0	1	0	26	26				
CXorf66	347487	broad.mit.edu	37	X	139038581	139038581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139038581C>T	ENST00000370540.1	-	3	583	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	187						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTTCTAGGCTGCCTTTCTT	0.403																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(559-561)aGc>aAc		chromosome X open reading frame 66							230.0	206.0	214.0					X																	139038581		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038581C>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.560G>A	X.37:g.139038581C>T	ENSP00000359571:p.Ser187Asn						p.S187N	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			3	583	-			187						Missense_Mutation	SNP	ENST00000370540.1	37	c.560G>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.841196	0.00573	.	.	ENSG00000203933	ENST00000370540	T	0.50548	0.74	3.84	-3.68	0.04463	.	1.564180	0.03827	N	0.268531	T	0.26085	0.0636	N	0.12746	0.255	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.10154	-1.0642	9	.	.	.	0.0589	6.6284	0.22843	0.0:0.2583:0.1504:0.5913	.	187	Q5JRM2	CX066_HUMAN	N	187	ENSP00000359571:S187N	.	S	-	2	0	CXorf66	138866247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.456000	0.06754	-1.252000	0.02491	-1.067000	0.02272	AGC		0.403	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		25	233	0	0	0	1	0	25	233				
CASC5	57082	broad.mit.edu	37	15	40913832	40913832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40913832G>T	ENST00000346991.5	+	11	1838	c.1448G>T	c.(1447-1449)aGt>aTt	p.S483I	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S457I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	483	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGCATGACAGTAATTATGCT	0.358																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1447-1449)aGt>aTt		cancer susceptibility candidate 5							57.0	54.0	55.0					15																	40913832		1833	4083	5916	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913832G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1448G>T	15.37:g.40913832G>T	ENSP00000335463:p.Ser483Ile					CASC5_ENST00000399668.2_Missense_Mutation_p.S457I|CASC5_ENST00000527044.1_3'UTR	p.S483I			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	1838	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	483			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.1448G>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886219	0.33348	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06294	3.33;3.32	5.46	-2.23	0.06930	.	0.935659	0.08955	N	0.869527	T	0.06280	0.0162	L	0.31664	0.95	0.09310	N	1	P;P;P	0.49090	0.834;0.834;0.919	B;B;P	0.46208	0.325;0.325;0.507	T	0.35276	-0.9795	10	0.72032	D	0.01	.	6.5519	0.22438	0.4662:0.2216:0.3122:0.0	.	457;483;457	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	483;457;457	ENSP00000335463:S483I;ENSP00000382576:S457I	ENSP00000260369:S457I	S	+	2	0	CASC5	38701124	0.000000	0.05858	0.003000	0.11579	0.715000	0.41141	-0.079000	0.11357	-0.357000	0.08175	-0.262000	0.10625	AGT		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		5	59	1	0	0.000602214	1	0.000649039	5	59				
DUOX1	53905	broad.mit.edu	37	15	45426379	45426379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45426379C>T	ENST00000321429.4	+	5	586	c.179C>T	c.(178-180)gCa>gTa	p.A60V	DUOX1_ENST00000389037.3_Missense_Mutation_p.A60V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	60	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCAGCTATGCAGATGGCGTG	0.632																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(178-180)gCa>gTa		dual oxidase 1							35.0	38.0	37.0					15																	45426379		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45426379C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.179C>T	15.37:g.45426379C>T	ENSP00000317997:p.Ala60Val					DUOX1_ENST00000389037.3_Missense_Mutation_p.A60V	p.A60V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	5	586	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	60			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.179C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636787	0.87760	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.74421	-0.84;-0.84	5.01	5.01	0.66863	.	0.259265	0.39759	N	0.001262	T	0.81034	0.4739	M	0.73598	2.24	0.42978	D	0.994454	P	0.41848	0.763	P	0.49421	0.61	T	0.81651	-0.0836	10	0.46703	T	0.11	-14.7966	16.1964	0.82029	0.0:1.0:0.0:0.0	.	60	Q9NRD9	DUOX1_HUMAN	V	60	ENSP00000317997:A60V;ENSP00000373689:A60V	ENSP00000317997:A60V	A	+	2	0	DUOX1	43213671	0.999000	0.42202	1.000000	0.80357	0.928000	0.56348	4.157000	0.58144	2.765000	0.95021	0.655000	0.94253	GCA		0.632	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		13	24	0	0	0	1	0	13	24				
GPBAR1	151306	broad.mit.edu	37	2	219127520	219127520	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219127520G>A	ENST00000522678.1	+	2	941	c.73G>A	c.(73-75)Gca>Aca	p.A25T	GPBAR1_ENST00000479077.1_Missense_Mutation_p.A25T|GPBAR1_ENST00000521462.1_Missense_Mutation_p.A25T|GPBAR1_ENST00000519574.1_Missense_Mutation_p.A25T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	25					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGCCCTGGCAAGCCTCAT	0.672																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(73-75)Gca>Aca		G protein-coupled bile acid receptor 1							19.0	23.0	22.0					2																	219127520		2060	4203	6263	SO:0001583	missense	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219127520G>A	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.73G>A	2.37:g.219127520G>A	ENSP00000430886:p.Ala25Thr					GPBAR1_ENST00000521462.1_Missense_Mutation_p.A25T|GPBAR1_ENST00000519574.1_Missense_Mutation_p.A25T|GPBAR1_ENST00000479077.1_Missense_Mutation_p.A25T	p.A25T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	941	+		Renal(207;0.0474)	25					B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	c.73G>A	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681293	0.68042	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.62	4.62	0.57501	.	0.105817	0.39759	U	0.001266	T	0.33000	0.0848	L	0.29908	0.895	0.38527	D	0.948879	D	0.53151	0.958	P	0.49252	0.604	T	0.16482	-1.0401	10	0.54805	T	0.06	-4.2863	10.1586	0.42838	0.0:0.0:0.6866:0.3134	.	25	Q8TDU6	GPBAR_HUMAN	T	25	ENSP00000430698:A25T;ENSP00000430886:A25T;ENSP00000430202:A25T;ENSP00000428824:A25T	ENSP00000430698:A25T	A	+	1	0	GPBAR1	218835765	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	3.831000	0.55776	2.415000	0.81967	0.555000	0.69702	GCA		0.672	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		8	7	0	0	0	1	0	8	7				
CHEK2P2	646096	broad.mit.edu	37	15	20488798	20488798	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20488798G>T	ENST00000555186.1	+	0	281					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TCTCTCATGAGAACTTTATGT	0.418																																						ENST00000555186.1																			0																																																			0							g.chr15:20488798G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20488798G>T								NR_038836.1						0	281	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.418	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		19	73	1	0	5.35267e-07	1	6.25286e-07	19	73				
TICRR	90381	broad.mit.edu	37	15	90161406	90161406	+	Missense_Mutation	SNP	T	T	G	rs371407367		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90161406T>G	ENST00000268138.7	+	17	3089	c.2984T>G	c.(2983-2985)aTt>aGt	p.I995S	KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Missense_Mutation_p.I994S			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	995					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGTCCTGATATTGGTGTTGTT	0.413																																						ENST00000268138.7																			0											c.(2983-2985)aTt>aGt		TOPBP1-interacting checkpoint and replication regulator							397.0	380.0	386.0					15																	90161406		1941	4134	6075	SO:0001583	missense	90381							g.chr15:90161406T>G	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2984T>G	15.37:g.90161406T>G	ENSP00000268138:p.Ile995Ser					KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Missense_Mutation_p.I994S	p.I995S							17	3089	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2984T>G	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929266	0.52759	.	.	ENSG00000140534	ENST00000268138	T	0.20069	2.1	4.45	4.45	0.53987	.	0.524553	0.18848	N	0.129497	T	0.28400	0.0702	M	0.64997	1.995	0.09310	N	0.999993	P	0.50819	0.939	P	0.48425	0.577	T	0.13845	-1.0494	10	0.56958	D	0.05	-8.7783	9.0968	0.36645	0.0:0.0969:0.0:0.9031	.	995	Q7Z2Z1	TICRR_HUMAN	S	995	ENSP00000268138:I995S	ENSP00000268138:I995S	I	+	2	0	C15orf42	87962410	0.028000	0.19301	0.015000	0.15790	0.979000	0.70002	1.078000	0.30754	1.764000	0.52075	0.260000	0.18958	ATT		0.413	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		8	324	0	0	0	1	0	8	324				
NLRP4	147945	broad.mit.edu	37	19	56363645	56363645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56363645C>T	ENST00000301295.6	+	2	621	c.199C>T	c.(199-201)Caa>Taa	p.Q67*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q67*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	67	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAGAACAACAAGCTTGGAA	0.448																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(199-201)Caa>Taa		NLR family, pyrin domain containing 4							82.0	82.0	82.0					19																	56363645		2203	4300	6503	SO:0001587	stop_gained	147945						ATP binding	g.chr19:56363645C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.199C>T	19.37:g.56363645C>T	ENSP00000301295:p.Gln67*					NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q67*	p.Q67*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	621	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	67			DAPIN.		Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	c.199C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689661	0.96784	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.46	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	2.6919	0.05123	0.1934:0.5168:0.1872:0.1026	.	.	.	.	X	67	.	ENSP00000301295:Q67X	Q	+	1	0	NLRP4	61055457	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.235000	0.09016	0.547000	0.28938	0.655000	0.94253	CAA		0.448	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		26	38	0	0	0	1	0	26	38				
GLB1L2	89944	broad.mit.edu	37	11	134239705	134239705	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239705A>C	ENST00000535456.2	+	11	1222	c.1034A>C	c.(1033-1035)gAt>gCt	p.D345A	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D345A|GLB1L2_ENST00000389881.3_Missense_Mutation_p.D345A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	345					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCAGACTATGATGCTGTGCTG	0.552																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1033-1035)gAt>gCt		galactosidase, beta 1-like 2							176.0	160.0	166.0					11																	134239705		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134239705A>C		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1034A>C	11.37:g.134239705A>C	ENSP00000444628:p.Asp345Ala					GLB1L2_ENST00000389881.3_Missense_Mutation_p.D345A|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D345A|GLB1L2_ENST00000529077.1_3'UTR	p.D345A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	11	1222	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	345					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1034A>C	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.184847|4.184847	0.78677|0.78677	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.98296|.	-4.85;-4.85;-4.85|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79753|.	0.4500|.	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|.	0.82713|.	-0.0321|.	10|.	0.72032|.	D|.	0.01|.	-15.8335|-15.8335	14.8761|14.8761	0.70496|0.70496	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	345|.	Q8IW92|.	GLBL2_HUMAN|.	A|C	345|283;172	ENSP00000344659:D345A;ENSP00000444628:D345A;ENSP00000374531:D345A|.	ENSP00000344659:D345A|.	D|X	+|+	2|3	0|0	GLB1L2|GLB1L2	133744915|133744915	1.000000|1.000000	0.71417|0.71417	0.442000|0.442000	0.26870|0.26870	0.679000|0.679000	0.39708|0.39708	8.385000|8.385000	0.90163|0.90163	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.552	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		12	118	0	0	0	1	0	12	118				
CENPE	1062	broad.mit.edu	37	4	104080348	104080348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104080348G>A	ENST00000265148.3	-	22	2509	c.2420C>T	c.(2419-2421)aCt>aTt	p.T807I	CENPE_ENST00000380026.3_Missense_Mutation_p.T782I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	807					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CGACTGTGTAGTTGCTAGGTC	0.333																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(2419-2421)aCt>aTt		centromere protein E, 312kDa							134.0	137.0	136.0					4																	104080348		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104080348G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2420C>T	4.37:g.104080348G>A	ENSP00000265148:p.Thr807Ile					CENPE_ENST00000380026.3_Missense_Mutation_p.T782I	p.T807I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	22	2509	-			807					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2420C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	3.755	-0.050777	0.07407	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.81739	-1.53;-1.53;-1.53	5.03	4.17	0.49024	.	.	.	.	.	T	0.68293	0.2985	L	0.47716	1.5	0.09310	N	1	B;P	0.45902	0.279;0.868	B;B	0.33690	0.165;0.168	T	0.63323	-0.6663	9	0.44086	T	0.13	.	6.4687	0.21995	0.0905:0.0:0.5932:0.3163	.	782;807	Q02224-3;Q02224	.;CENPE_HUMAN	I	807;807;782;807	ENSP00000265148:T807I;ENSP00000369365:T782I;ENSP00000423981:T807I	ENSP00000265148:T807I	T	-	2	0	CENPE	104299797	0.000000	0.05858	0.016000	0.15963	0.027000	0.11550	0.477000	0.22196	2.482000	0.83794	0.650000	0.86243	ACT		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				33	45	0	0	0	1	0	33	45				
REV3L	5980	broad.mit.edu	37	6	111697474	111697474	+	Missense_Mutation	SNP	C	C	T	rs201474223		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111697474C>T	ENST00000358835.3	-	14	2538	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H	REV3L_ENST00000368805.1_Missense_Mutation_p.R695H|REV3L_ENST00000435970.1_Missense_Mutation_p.R617H|REV3L_ENST00000368802.3_Missense_Mutation_p.R695H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	695					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGGGTGACGGTGCATATG	0.313								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0	0.0	5008	,	,		18655	0.001		0.0	False		,,,				2504	0.0					ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(1849-1851)cGt>cAt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							61.0	66.0	64.0					6																	111697474		2203	4298	6501	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697474C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2084G>A	6.37:g.111697474C>T	ENSP00000351697:p.Arg695His					REV3L_ENST00000368805.1_Missense_Mutation_p.R695H|REV3L_ENST00000358835.3_Missense_Mutation_p.R695H|REV3L_ENST00000368802.3_Missense_Mutation_p.R695H	p.R617H			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	2666	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	695					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1850G>A	CCDS5091.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.659	0.900000	0.17686	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01629	4.82;4.82;4.82;4.72	5.53	2.77	0.32553	Ribonuclease H-like (1);	0.301808	0.31370	N	0.007771	T	0.00580	0.0019	N	0.19112	0.55	0.32556	N	0.531703	B	0.09022	0.002	B	0.06405	0.002	T	0.48091	-0.9065	10	0.40728	T	0.16	-25.2776	10.2382	0.43297	0.0:0.7428:0.0:0.2572	.	695	O60673	DPOLZ_HUMAN	H	695;695;695;617	ENSP00000357792:R695H;ENSP00000357795:R695H;ENSP00000351697:R695H;ENSP00000402003:R617H	ENSP00000351697:R695H	R	-	2	0	REV3L	111804167	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.628000	0.24522	1.344000	0.45657	0.563000	0.77884	CGT		0.313	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		20	32	0	0	0	1	0	20	32				
C5orf42	65250	broad.mit.edu	37	5	37120417	37120417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37120417G>T	ENST00000508244.1	-	48	9142	c.9049C>A	c.(9049-9051)Cta>Ata	p.L3017I	C5orf42_ENST00000425232.2_Missense_Mutation_p.L3017I|C5orf42_ENST00000274258.7_Missense_Mutation_p.L1915I|C5orf42_ENST00000512288.1_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3017						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGATTTATTAGAAAACTGTGA	0.368																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(5743-5745)Cta>Ata		chromosome 5 open reading frame 42							88.0	86.0	87.0					5																	37120417		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37120417G>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9049C>A	5.37:g.37120417G>T	ENSP00000421690:p.Leu3017Ile					C5orf42_ENST00000425232.2_Missense_Mutation_p.L3017I|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Missense_Mutation_p.L3017I	p.L1915I			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		49	9330	-	all_lung(31;0.000616)		3017					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.5743C>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728744	0.30593	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.21	1.98	0.26296	.	0.563694	0.17027	N	0.189871	T	0.24160	0.0585	L	0.29908	0.895	0.09310	N	1	B;P	0.36249	0.378;0.545	B;B	0.35114	0.145;0.196	T	0.10989	-1.0606	10	0.15066	T	0.55	.	5.5762	0.17225	0.3958:0.0:0.6042:0.0	.	3017;1915	E9PH94;Q9H799	.;CE042_HUMAN	I	3017;3017;1915;2083	ENSP00000421690:L3017I;ENSP00000389014:L3017I;ENSP00000274258:L1915I;ENSP00000424223:L2083I	ENSP00000274258:L1915I	L	-	1	2	C5orf42	37156174	0.043000	0.20138	0.004000	0.12327	0.004000	0.04260	1.072000	0.30678	0.582000	0.29556	0.650000	0.86243	CTA		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		4	37	1	0	0.00024832	1	0.0002712	4	37				
SLC47A2	146802	broad.mit.edu	37	17	19610012	19610012	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19610012G>T	ENST00000325411.5	-	9	948	c.898C>A	c.(898-900)Ctc>Atc	p.L300I	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.L264I	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	300					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CAGATCATGAGCATGCTGGGG	0.627																																						ENST00000350657.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(790-792)Ctc>Atc		solute carrier family 47 (multidrug and toxin extrusion), member 2							105.0	92.0	96.0					17																	19610012		2203	4300	6503	SO:0001583	missense	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19610012G>T	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.898C>A	17.37:g.19610012G>T	ENSP00000326671:p.Leu300Ile					SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.L300I	p.L264I	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN			9	964	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		300					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	c.790C>A	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781098	0.49891	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.29397	1.57;1.57;1.57	5.36	4.39	0.52855	.	0.290991	0.31404	N	0.007712	T	0.40694	0.1127	L	0.45422	1.42	0.41637	D	0.989055	D;D;P	0.59357	0.985;0.985;0.859	P;P;P	0.57846	0.828;0.828;0.759	T	0.24870	-1.0148	10	0.51188	T	0.08	-24.3657	11.9299	0.52841	0.0853:0.0:0.9147:0.0	.	264;264;300	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	I	264;300;215;264	ENSP00000338084:L264I;ENSP00000326671:L300I;ENSP00000391848:L264I	ENSP00000326671:L300I	L	-	1	0	SLC47A2	19550604	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	3.028000	0.49705	1.404000	0.46819	0.462000	0.41574	CTC		0.627	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		22	51	1	0	6.21321e-17	1	8.03594e-17	22	51				
ADIPOR1	51094	broad.mit.edu	37	1	202917539	202917539	+	Nonsense_Mutation	SNP	C	C	A	rs569050331		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202917539C>A	ENST00000340990.5	-	3	449	c.151G>T	c.(151-153)Gag>Tag	p.E51*	ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.E51*|ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.E51*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	51					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CATGTTTGCTCTTCTTCAGCC	0.502																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(151-153)Gag>Tag		adiponectin receptor 1							80.0	75.0	77.0					1																	202917539		2203	4300	6503	SO:0001587	stop_gained	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202917539C>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.151G>T	1.37:g.202917539C>A	ENSP00000341785:p.Glu51*					ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.E51*|ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.E51*	p.E51*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		3	449	-			51					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Nonsense_Mutation	SNP	ENST00000340990.5	37	c.151G>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	37	6.599698	0.97697	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	.	.	.	6.06	5.15	0.70609	.	0.293323	0.41396	D	0.000889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.6964	0.23201	0.0:0.6992:0.1475:0.1533	.	.	.	.	X	51	.	ENSP00000341785:E51X	E	-	1	0	ADIPOR1	201184162	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	3.407000	0.52644	1.566000	0.49654	0.655000	0.94253	GAG		0.502	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		24	26	1	0	5.45024e-15	1	6.98109e-15	24	26				
ALCAM	214	broad.mit.edu	37	3	105253607	105253607	+	Missense_Mutation	SNP	G	G	A	rs577619201		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105253607G>A	ENST00000306107.5	+	6	1148	c.648G>A	c.(646-648)atG>atA	p.M216I	ALCAM_ENST00000486979.2_Missense_Mutation_p.M165I|ALCAM_ENST00000389927.4_Missense_Mutation_p.M25I|ALCAM_ENST00000472644.2_Missense_Mutation_p.M216I|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	216	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACATACAAATGCCATTCACCT	0.398																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(646-648)atG>atA		activated leukocyte cell adhesion molecule							138.0	132.0	134.0					3																	105253607		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105253607G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.648G>A	3.37:g.105253607G>A	ENSP00000305988:p.Met216Ile					ALCAM_ENST00000486979.2_Missense_Mutation_p.M165I|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Missense_Mutation_p.M25I|ALCAM_ENST00000472644.2_Missense_Mutation_p.M216I	p.M216I	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			6	1148	+			216			Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.648G>A	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.470736|2.470736	0.43942|0.43942	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000465413|ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	.|T;T;T;T	.|0.75704	.|1.0;1.0;1.0;-0.96	5.54|5.54	1.53|1.53	0.23141|0.23141	.|CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.552047	.|0.22344	.|N	.|0.061288	T|T	0.47303|0.47303	0.1438|0.1438	N|N	0.03115|0.03115	-0.41|-0.41	0.21861|0.21861	N|N	0.999509|0.999509	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.43475|0.43475	-0.9389|-0.9389	5|10	.|0.51188	.|T	.|0.08	-3.8209|-3.8209	7.3927|7.3927	0.26919|0.26919	0.1342:0.0:0.623:0.2428|0.1342:0.0:0.623:0.2428	.|.	.|25;216;216	.|Q6ZS95;B4DTU0;Q13740	.|.;.;CD166_HUMAN	T|I	64|216;216;165;25	.|ENSP00000305988:M216I;ENSP00000419236:M216I;ENSP00000418213:M165I;ENSP00000374577:M25I	.|ENSP00000305988:M216I	A|M	+|+	1|3	0|0	ALCAM|ALCAM	106736297|106736297	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.979000|0.979000	0.70002|0.70002	1.341000|1.341000	0.33907|0.33907	0.811000|0.811000	0.34303|0.34303	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.398	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		42	77	0	0	0	1	0	42	77				
XIRP2	129446	broad.mit.edu	37	2	168114997	168114997	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168114997C>T	ENST00000409728.1	+	11	2129	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Silent_p.D425D|XIRP2_ENST00000420519.1_Silent_p.D680D|XIRP2_ENST00000409756.2_Silent_p.D647D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Silent_p.D647D|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2758					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCTGAAGACACAAAGAGTA	0.358																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2038-2040)gaC>gaT		xin actin-binding repeat containing 2							48.0	46.0	47.0					2																	168114997		1931	4145	6076	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168114997C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2040C>T	2.37:g.168114997C>T						XIRP2_ENST00000409605.1_Silent_p.D425D|XIRP2_ENST00000409756.2_Silent_p.D647D|XIRP2_ENST00000409043.1_Silent_p.D647D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Silent_p.D680D	p.D680D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2129	+			2758					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.2040C>T	CCDS56143.1																																																																																				0.358	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		15	14	0	0	0	1	0	15	14				
MSH4	4438	broad.mit.edu	37	1	76280818	76280818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76280818C>T	ENST00000263187.3	+	5	916	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	271					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTTCAGTCCAAGTAAGtt	0.313								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(811-813)tCc>tTc	Mismatch excision repair (MMR)	mutS homolog 4							64.0	66.0	65.0					1																	76280818		2203	4299	6502	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76280818C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.812C>T	1.37:g.76280818C>T	ENSP00000263187:p.Ser271Phe						p.S271F	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			5	916	+			271					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.812C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361183	0.82353	.	.	ENSG00000057468	ENST00000263187	T	0.60797	0.16	5.01	5.01	0.66863	DNA mismatch repair protein MutS, connector (2);	0.589219	0.18140	N	0.150436	T	0.65481	0.2695	L	0.54323	1.7	0.51482	D	0.999923	D	0.64830	0.994	P	0.61201	0.885	T	0.68450	-0.5405	10	0.72032	D	0.01	-2.6376	18.6984	0.91611	0.0:1.0:0.0:0.0	.	271	O15457	MSH4_HUMAN	F	271	ENSP00000263187:S271F	ENSP00000263187:S271F	S	+	2	0	MSH4	76053406	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.904000	0.75708	2.513000	0.84729	0.655000	0.94253	TCC		0.313	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		11	61	0	0	0	1	0	11	61				
KIAA0232	9778	broad.mit.edu	37	4	6864544	6864544	+	Missense_Mutation	SNP	A	A	G	rs201477641	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864544A>G	ENST00000307659.5	+	7	2890	c.2435A>G	c.(2434-2436)aAt>aGt	p.N812S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.N812S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	812							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAAGTATGTAATGAAAGTCCA	0.343													A|||	3	0.000599042	0.0015	0.0014	5008	,	,		20750	0.0		0.0	False		,,,				2504	0.0					ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2434-2436)aAt>aGt		KIAA0232		A	SER/ASN,SER/ASN	9,3663		0,9,1827	65.0	61.0	62.0		2435,2435	3.2	0.0	4		62	0,8190		0,0,4095	yes	missense,missense	KIAA0232	NM_001100590.1,NM_014743.2	46,46	0,9,5922	GG,GA,AA		0.0,0.2451,0.0759	benign,benign	812/1396,812/1396	6864544	9,11853	1836	4095	5931	SO:0001583	missense	9778						ATP binding	g.chr4:6864544A>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2435A>G	4.37:g.6864544A>G	ENSP00000303928:p.Asn812Ser					KIAA0232_ENST00000425103.1_Missense_Mutation_p.N812S	p.N812S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2890	+			812					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2435A>G	CCDS43209.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	0.001	-3.788231	0.00004	0.002451	0.0	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.1	3.16	0.36331	.	0.636044	0.18167	N	0.149594	T	0.07052	0.0179	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37776	-0.9691	9	0.02654	T	1	0.0945	7.8859	0.29651	0.2746:0.0:0.7254:0.0	.	812	Q92628	K0232_HUMAN	S	812	.	ENSP00000303928:N812S	N	+	2	0	KIAA0232	6915445	0.728000	0.28080	0.001000	0.08648	0.007000	0.05969	1.871000	0.39539	0.579000	0.29504	-0.334000	0.08254	AAT		0.343	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		9	67	0	0	0	1	0	9	67				
ZBTB45	84878	broad.mit.edu	37	19	59028726	59028726	+	Silent	SNP	G	G	A	rs551242625	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028726G>A	ENST00000594051.1	-	2	795	c.315C>T	c.(313-315)gcC>gcT	p.A105A	ZBTB45_ENST00000354590.3_Silent_p.A105A|ZBTB45_ENST00000600990.1_Silent_p.A105A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCACTGACGCGGCCGTGAGCA	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	18	0.00359425	0.0	0.0	5008	,	,		16205	0.001		0.0	False		,,,				2504	0.0174				NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(313-315)gcC>gcT		zinc finger and BTB domain containing 45							51.0	48.0	49.0					19																	59028726		2202	4298	6500	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028726G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.315C>T	19.37:g.59028726G>A			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Silent_p.A105A|ZBTB45_ENST00000600990.1_Silent_p.A105A	p.A105A			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	795	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	105						Silent	SNP	ENST00000594051.1	37	c.315C>T	CCDS12984.1																																																																																				0.662	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		17	39	0	0	0	1	0	17	39				
ABCC3	8714	broad.mit.edu	37	17	48741188	48741188	+	Missense_Mutation	SNP	G	G	A	rs376917479		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48741188G>A	ENST00000285238.8	+	9	1225	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	ABCC3_ENST00000427699.1_Missense_Mutation_p.R382H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	382	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GTGAAGTTTCGTACTGGGATC	0.562																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1144-1146)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						112.0	93.0	99.0					17																	48741188		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48741188G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1145G>A	17.37:g.48741188G>A	ENSP00000285238:p.Arg382His					ABCC3_ENST00000427699.1_Missense_Mutation_p.R382H	p.R382H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		9	1225	+			382			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.1145G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431395	0.43122	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.91894	-2.93;-2.93	4.71	3.74	0.42951	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.133554	0.46758	D	0.000273	D	0.97504	0.9183	H	0.98507	4.25	0.41694	D	0.989368	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.993	D	0.98216	1.0475	10	0.87932	D	0	-5.0374	12.6815	0.56924	0.0798:0.0:0.9202:0.0	.	157;382;382	D3DTY0;O15438;O15438-5	.;MRP3_HUMAN;.	H	382	ENSP00000395160:R382H;ENSP00000285238:R382H	ENSP00000285238:R382H	R	+	2	0	ABCC3	46096187	0.994000	0.37717	0.008000	0.14137	0.009000	0.06853	4.509000	0.60448	1.187000	0.43000	0.591000	0.81541	CGT		0.562	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		22	45	0	0	0	1	0	22	45				
MED18	54797	broad.mit.edu	37	1	28660946	28660946	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28660946G>T	ENST00000373842.4	+	3	301	c.92G>T	c.(91-93)aGt>aTt	p.S31I	MED18_ENST00000398997.2_Missense_Mutation_p.S31I|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	31						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGATCACAGTTTGGAAAGC	0.418																																						ENST00000373842.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(91-93)aGt>aTt		mediator complex subunit 18							174.0	165.0	168.0					1																	28660946		2203	4300	6503	SO:0001583	missense	54797				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding	g.chr1:28660946G>T	BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"""mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"""			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.92G>T	1.37:g.28660946G>T	ENSP00000362948:p.Ser31Ile					MED18_ENST00000398997.2_Missense_Mutation_p.S31I|MED18_ENST00000479574.1_3'UTR	p.S31I	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)	3	301	+		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)	31					D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	c.92G>T	CCDS322.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858278	0.32791	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	4.82	0.62117	Mediator complex, subunit Med18, metazoa/fungi (1);	0.214274	0.50627	N	0.000107	T	0.33089	0.0851	L	0.43152	1.355	0.23754	N	0.996937	B	0.33413	0.411	B	0.28709	0.093	T	0.13495	-1.0507	9	0.22706	T	0.39	-14.151	13.8543	0.63517	0.0:0.0:0.8459:0.1541	.	31	Q9BUE0	MED18_HUMAN	I	31	.	ENSP00000362948:S31I	S	+	2	0	MED18	28533533	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.369000	0.73109	1.418000	0.47098	0.655000	0.94253	AGT		0.418	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		17	164	1	0	1.33834e-09	1	1.62941e-09	17	164				
FAT2	2196	broad.mit.edu	37	5	150945414	150945414	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945414G>T	ENST00000261800.5	-	1	3091	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1027	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGTGGAGATTCTCATTC	0.602																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3079-3081)Ctc>Atc		FAT atypical cadherin 2							80.0	64.0	69.0					5																	150945414		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945414G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3079C>A	5.37:g.150945414G>T	ENSP00000261800:p.Leu1027Ile						p.L1027I	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3091	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1027			Cadherin 8.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3079C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276372	0.59649	.	.	ENSG00000086570	ENST00000261800	T	0.72282	-0.64	5.16	4.27	0.50696	Cadherin (3);Cadherin-like (1);	0.000000	0.49916	D	0.000121	T	0.76212	0.3956	L	0.56769	1.78	0.45930	D	0.99876	D	0.76494	0.999	D	0.83275	0.996	T	0.72040	-0.4410	10	0.23302	T	0.38	.	6.4691	0.21997	0.2669:0.0:0.7331:0.0	.	1027	Q9NYQ8	FAT2_HUMAN	I	1027	ENSP00000261800:L1027I	ENSP00000261800:L1027I	L	-	1	0	FAT2	150925607	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.915000	0.48805	2.559000	0.86315	0.655000	0.94253	CTC		0.602	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	28	1	0	3.28513e-13	1	4.1605e-13	27	28				
ABCA12	26154	broad.mit.edu	37	2	215819927	215819927	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215819927G>T	ENST00000272895.7	-	43	6611	c.6392C>A	c.(6391-6393)cCg>cAg	p.P2131Q	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.P1813Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2131					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGACCTTACCGGATCATTAGG	0.343																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.e43+1		ATP-binding cassette, sub-family A (ABC1), member 12							64.0	60.0	61.0					2																	215819927		2203	4300	6503	SO:0001630	splice_region_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215819927G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6393+1C>A	2.37:g.215819927G>T						AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.P1813_splice	p.P2131_splice	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	43	6611	-		Renal(323;0.127)	2131					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37	c.6393_splice	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342509	0.01277	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82711	-1.64;-1.64	5.97	5.08	0.68730	.	0.254803	0.35207	N	0.003371	T	0.58278	0.2111	N	0.02708	-0.52	0.80722	D	1	B;B	0.18968	0.032;0.026	B;B	0.18561	0.022;0.013	T	0.57207	-0.7851	10	0.02654	T	1	.	9.936	0.41552	0.0:0.1131:0.6236:0.2632	.	2131;1813	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	2131;1813	ENSP00000272895:P2131Q;ENSP00000374312:P1813Q	ENSP00000272895:P2131Q	P	-	2	0	ABCA12	215528172	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.720000	0.47252	1.516000	0.48900	-0.181000	0.13052	CCG		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Missense_Mutation	13	32	1	0	3.27435e-08	1	3.90559e-08	13	32				
EML1	2009	broad.mit.edu	37	14	100363487	100363487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100363487G>A	ENST00000262233.6	+	7	822	c.683G>A	c.(682-684)gGg>gAg	p.G228E	EML1_ENST00000334192.4_Missense_Mutation_p.G247E|EML1_ENST00000327921.9_Missense_Mutation_p.G216E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	228	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.G247V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAAAGCTATGGGTACAGGGGT	0.443																																						ENST00000262233.6																			1	Substitution - Missense(1)	p.G247V(1)	lung(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(682-684)gGg>gAg		echinoderm microtubule associated protein like 1							96.0	91.0	93.0					14																	100363487		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100363487G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.683G>A	14.37:g.100363487G>A	ENSP00000262233:p.Gly228Glu					EML1_ENST00000327921.9_Missense_Mutation_p.G216E|EML1_ENST00000334192.4_Missense_Mutation_p.G247E	p.G228E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			7	822	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	228					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.683G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948897	0.92660	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.29	5.29	0.74685	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.964;0.97;0.997;0.988;0.988	T	0.83301	-0.0028	10	0.87932	D	0	-24.8931	18.9498	0.92637	0.0:0.0:1.0:0.0	.	216;216;228;247;247	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	E	215;216;228;247;247;197	ENSP00000451346:G215E;ENSP00000327384:G216E;ENSP00000262233:G228E;ENSP00000334314:G247E;ENSP00000452089:G197E	ENSP00000262233:G228E	G	+	2	0	EML1	99433240	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	9.675000	0.98638	2.480000	0.83734	0.650000	0.86243	GGG		0.443	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		17	22	0	0	0	1	0	17	22				
TMEM109	79073	broad.mit.edu	37	11	60689458	60689458	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60689458C>T	ENST00000227525.3	+	4	956	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Missense_Mutation_p.R185W|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	185					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)		p.R185W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCCTTCCACCCGGGCCCTGCT	0.672																																						ENST00000227525.3																			1	Substitution - Missense(1)	p.R185W(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(553-555)Cgg>Tgg		transmembrane protein 109							69.0	69.0	69.0					11																	60689458		2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60689458C>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.553C>T	11.37:g.60689458C>T	ENSP00000227525:p.Arg185Trp					TMEM109_ENST00000536171.1_Missense_Mutation_p.R185W|RP11-881M11.4_ENST00000543907.1_RNA	p.R185W	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			4	956	+			185						Missense_Mutation	SNP	ENST00000227525.3	37	c.553C>T	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730095	0.69074	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000540407;ENST00000536171	.	.	.	4.9	3.99	0.46301	.	0.000000	0.48767	D	0.000163	T	0.57286	0.2043	M	0.61703	1.905	0.37845	D	0.929193	B	0.25521	0.128	B	0.18871	0.023	T	0.61662	-0.7017	9	0.66056	D	0.02	-28.2172	11.1326	0.48356	0.0:0.9125:0.0:0.0875	.	185	Q9BVC6	TM109_HUMAN	W	185;185;107;185	.	ENSP00000227525:R185W	R	+	1	2	TMEM109	60446034	0.994000	0.37717	1.000000	0.80357	0.807000	0.45602	3.231000	0.51294	1.065000	0.40693	-0.136000	0.14681	CGG		0.672	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		38	51	0	0	0	1	0	38	51				
GRM3	2913	broad.mit.edu	37	7	86394808	86394808	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394808C>A	ENST00000361669.2	+	2	1446	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GRM3_ENST00000394720.2_Missense_Mutation_p.S114Y|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.S116Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	116					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GTCAGGGCATCTTTGACAAAA	0.443																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(346-348)tCt>tAt		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						178.0	164.0	169.0					7																	86394808		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86394808C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.347C>A	7.37:g.86394808C>A	ENSP00000355316:p.Ser116Tyr					GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.S114Y|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.S116Y	p.S116Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			2	1446	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		116					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.347C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965548	0.53507	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	D;D;D	0.86769	-2.17;-2.17;-2.17	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93284	0.7860	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.981;0.995	D	0.92691	0.6166	10	0.45353	T	0.12	.	17.9854	0.89154	0.0:1.0:0.0:0.0	.	116;116	G5E9K2;Q14832	.;GRM3_HUMAN	Y	116;116;114	ENSP00000355316:S116Y;ENSP00000398767:S116Y;ENSP00000378209:S114Y	ENSP00000355316:S116Y	S	+	2	0	GRM3	86232744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.645000	0.83430	2.732000	0.93576	0.655000	0.94253	TCT		0.443	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			82	145	1	0	2.43516e-34	1	3.27332e-34	82	145				
IPO5	3843	broad.mit.edu	37	13	98654812	98654812	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98654812C>T	ENST00000490680.1	+	11	1265	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	IPO5_ENST00000261574.5_Silent_p.I418I|IPO5_ENST00000539640.1_Silent_p.I275I			O00410	IPO5_HUMAN	importin 5	400					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAAATGAGATCGTAAATTTTG	0.393																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1252-1254)atC>atT		importin 5							109.0	108.0	108.0					13																	98654812		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98654812C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1200C>T	13.37:g.98654812C>T						IPO5_ENST00000539640.1_Silent_p.I275I|IPO5_ENST00000490680.1_Silent_p.I400I	p.I418I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			14	1434	+			400					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.1254C>T		.	.	.	.	.	.	.	.	.	.	C	9.300	1.052918	0.19907	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.24	-5.6	0.02497	.	.	.	.	.	T	0.38161	0.1030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36311	-0.9753	4	.	.	.	-6.0968	2.9851	0.05965	0.2153:0.291:0.063:0.4307	.	.	.	.	L	402	.	.	S	+	2	0	IPO5	97452813	0.131000	0.22433	0.930000	0.37139	0.977000	0.68977	-0.342000	0.07801	-1.272000	0.02427	-0.539000	0.04255	TCG		0.393	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		19	46	0	0	0	1	0	19	46				
NRCAM	4897	broad.mit.edu	37	7	107834762	107834762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834762C>T	ENST00000425651.2	-	13	1573	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	NRCAM_ENST00000379024.4_Missense_Mutation_p.C506Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.C519Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.C506Y|NRCAM_ENST00000379028.3_Missense_Mutation_p.C525Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.C525Y	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	525	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTTGCAACACACGTATAAGT	0.353																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1573-1575)tGt>tAt		neuronal cell adhesion molecule							152.0	141.0	145.0					7																	107834762		2202	4300	6502	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834762C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1574G>A	7.37:g.107834762C>T	ENSP00000401244:p.Cys525Tyr					NRCAM_ENST00000413765.2_Missense_Mutation_p.C506Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.C506Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.C519Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.C525Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.C525Y	p.C525Y			Q92823	NRCAM_HUMAN			16	2044	-			525			Ig-like 5.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1574G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624150	0.87560	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	H	0.99726	4.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;1.0;1.0;1.0;1.0	D	0.91940	0.5562	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	525;506;506;519;525	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Y	525;525;506;525;519;506;525;525;519	ENSP00000368314:C525Y;ENSP00000407858:C506Y;ENSP00000325269:C519Y;ENSP00000368310:C506Y;ENSP00000401244:C525Y;ENSP00000368308:C525Y	ENSP00000325269:C519Y	C	-	2	0	NRCAM	107621998	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	7.294000	0.78760	2.861000	0.98227	0.655000	0.94253	TGT		0.353	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		6	142	0	0	0	1	0	6	142				
GRIA3	2892	broad.mit.edu	37	X	122538588	122538588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122538588C>T	ENST00000371251.1	+	10	1375	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	GRIA3_ENST00000542149.1_Silent_p.N441N|GRIA3_ENST00000264357.5_Silent_p.N441N|GRIA3_ENST00000541091.1_Silent_p.N425N|GRIA3_ENST00000371256.5_Silent_p.N441N			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	441					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACAAGAAGAACCATGAGCAAC	0.353																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1321-1323)aaC>aaT		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						125.0	97.0	106.0					X																	122538588		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122538588C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1323C>T	X.37:g.122538588C>T						GRIA3_ENST00000542149.1_Silent_p.N441N|GRIA3_ENST00000371251.1_Silent_p.N441N|GRIA3_ENST00000541091.1_Silent_p.N425N|GRIA3_ENST00000371256.5_Silent_p.N441N	p.N441N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			10	1615	+			441					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.1323C>T	CCDS14604.1																																																																																				0.353	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		28	56	0	0	0	1	0	28	56				
ANK2	287	broad.mit.edu	37	4	114278686	114278686	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114278686T>G	ENST00000357077.4	+	38	8965	c.8912T>G	c.(8911-8913)gTt>gGt	p.V2971G	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V2938G|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2971					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGAAGACGTTGTAGTGGCA	0.413																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8911-8913)gTt>gGt		ankyrin 2, neuronal							159.0	159.0	159.0					4																	114278686		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278686T>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8912T>G	4.37:g.114278686T>G	ENSP00000349588:p.Val2971Gly					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V2938G|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	p.V2971G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8965	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2938					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8912T>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.558405	0.27827	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68025	-0.29;-0.3	5.58	-5.68	0.02436	.	0.928117	0.08971	N	0.867282	T	0.55878	0.1948	M	0.62723	1.935	0.09310	N	1	B;B	0.28713	0.22;0.05	B;B	0.25140	0.058;0.033	T	0.46289	-0.9202	9	.	.	.	.	9.3993	0.38422	0.0:0.4237:0.1035:0.4728	.	2938;2971	Q01484;Q01484-4	ANK2_HUMAN;.	G	2971;2938	ENSP00000349588:V2971G;ENSP00000264366:V2938G	.	V	+	2	0	ANK2	114498135	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.927000	0.01561	-0.789000	0.04498	-0.256000	0.11100	GTT		0.413	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	197	0	0	0	1	0	5	197				
PRAMEF1	65121	broad.mit.edu	37	1	12853431	12853431	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12853431A>T	ENST00000332296.7	+	2	158	c.55A>T	c.(55-57)Aga>Tga	p.R19*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	19					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCTGCTGAGAGACCAGGC	0.557																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(55-57)Aga>Tga		PRAME family member 1							76.0	83.0	80.0					1																	12853431		2200	4295	6495	SO:0001587	stop_gained	65121							g.chr1:12853431A>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.55A>T	1.37:g.12853431A>T	ENSP00000332134:p.Arg19*						p.R19*	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	158	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	19					Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	c.55A>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.540477	0.45176	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.42	0.249	0.15531	.	0.662303	0.14767	N	0.299662	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3057	0.06998	0.7562:0.0:0.2438:0.0	.	.	.	.	X	19	.	ENSP00000332134:R19X	R	+	1	2	PRAMEF1	12776018	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.672000	0.25187	0.056000	0.16144	-0.570000	0.04155	AGA		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		4	95	0	0	0	1	0	4	95				
VWA3B	200403	broad.mit.edu	37	2	98736143	98736143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98736143G>T	ENST00000477737.1	+	4	663	c.459G>T	c.(457-459)gaG>gaT	p.E153D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.E153D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	153										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATTCTGGAGGGGGAGCTTG	0.522																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(457-459)gaG>gaT		von Willebrand factor A domain containing 3B							189.0	184.0	186.0					2																	98736143		1978	4146	6124	SO:0001583	missense	200403							g.chr2:98736143G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.459G>T	2.37:g.98736143G>T	ENSP00000417955:p.Glu153Asp					VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.E153D	p.E153D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			4	663	+			153					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.459G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	6.065	0.380328	0.11466	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.08720	3.06;3.06	6.02	3.19	0.36642	.	0.773311	0.12310	N	0.480285	T	0.08223	0.0205	L	0.44542	1.39	0.09310	N	0.999997	P;P	0.39862	0.673;0.692	B;B	0.42738	0.396;0.275	T	0.27157	-1.0082	10	0.17369	T	0.5	.	4.2947	0.10895	0.286:0.1652:0.5488:0.0	.	153;153	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	153	ENSP00000401959:E153D;ENSP00000417955:E153D	ENSP00000411168:E153D	E	+	3	2	VWA3B	98102575	0.067000	0.21026	0.011000	0.14972	0.072000	0.16883	1.429000	0.34903	0.841000	0.35020	0.655000	0.94253	GAG		0.522	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		21	190	1	0	5.26018e-13	1	6.65277e-13	21	190				
SCAP	22937	broad.mit.edu	37	3	47460853	47460853	+	Silent	SNP	C	C	T	rs372590558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460853C>T	ENST00000265565.5	-	13	2317	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	SCAP_ENST00000441517.2_Silent_p.T380T|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000545718.1_Silent_p.T243T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	635					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGCTGAAGAGCGTCGGCCAGT	0.577																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1903-1905)acG>acA		SREBF chaperone		C		0,4406		0,0,2203	55.0	52.0	53.0		1905	-2.7	0.4	3		53	1,8599		0,1,4299	no	coding-synonymous	SCAP	NM_012235.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		635/1280	47460853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460853C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1905G>A	3.37:g.47460853C>T						SCAP_ENST00000545718.1_Silent_p.T243T|SCAP_ENST00000441517.2_Silent_p.T380T	p.T635T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	2317	-			635					Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.1905G>A	CCDS2755.2																																																																																				0.577	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		11	25	0	0	0	1	0	11	25				
LXN	56925	broad.mit.edu	37	3	158384464	158384464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158384464G>A	ENST00000264265.3	-	6	854	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	214	Cystatin-like fold 2. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTGGCAGACGGCTATTATGT	0.388																																						ENST00000264265.3																			0				breast(2)|endometrium(1)|kidney(2)	5						c.(640-642)Cgt>Tgt		latexin							164.0	149.0	155.0					3																	158384464		2203	4300	6503	SO:0001583	missense	56925					cytoplasm	metalloendopeptidase inhibitor activity|protein binding	g.chr3:158384464G>A	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.640C>T	3.37:g.158384464G>A	ENSP00000264265:p.Arg214Cys					GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	p.R214C	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		6	854	-			214					Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	c.640C>T	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615761	0.46631	.	.	ENSG00000079257	ENST00000264265	T	0.25579	1.79	6.08	5.21	0.72293	.	0.317119	0.37577	N	0.002027	T	0.17238	0.0414	N	0.22421	0.69	0.53688	D	0.999973	P	0.46395	0.877	B	0.38458	0.274	T	0.02471	-1.1154	10	0.44086	T	0.13	-12.744	12.6745	0.56887	0.136:0.0:0.864:0.0	.	214	Q9BS40	LXN_HUMAN	C	214	ENSP00000264265:R214C	ENSP00000264265:R214C	R	-	1	0	LXN	159867158	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	3.112000	0.50368	1.599000	0.50093	-0.126000	0.14955	CGT		0.388	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		22	35	0	0	0	1	0	22	35				
PROX2	283571	broad.mit.edu	37	14	75330051	75330051	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75330051G>A	ENST00000445876.1	-	1	486	c.487C>T	c.(487-489)Cca>Tca	p.P163S	PROX2_ENST00000556084.2_Missense_Mutation_p.P163S|PROX2_ENST00000556489.2_Missense_Mutation_p.P163S			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	163					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAGCCTCCTGGCCCCTGAGCT	0.602																																						ENST00000556084.2																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(487-489)Cca>Tca		prospero homeobox 2							29.0	30.0	30.0					14																	75330051		1977	4157	6134	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75330051G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.487C>T	14.37:g.75330051G>A	ENSP00000405932:p.Pro163Ser					PROX2_ENST00000445876.1_Missense_Mutation_p.P163S|PROX2_ENST00000556489.2_Missense_Mutation_p.P163S	p.P163S	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	486	-			163					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.487C>T	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384704	0.42308	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	T;T	0.42131	0.98;0.98	5.35	3.52	0.40303	.	0.273852	0.28847	N	0.013943	T	0.31765	0.0807	L	0.51422	1.61	0.09310	N	1	B;B	0.28850	0.225;0.006	B;B	0.21151	0.033;0.008	T	0.21415	-1.0246	10	0.45353	T	0.12	.	6.7918	0.23703	0.1535:0.1463:0.7002:0.0	.	163;163	G3V3G0;Q3B8N5-2	.;.	S	163	ENSP00000451223:P163S;ENSP00000405932:P163S	ENSP00000374315:P163S	P	-	1	0	PROX2	74399804	0.000000	0.05858	0.015000	0.15790	0.015000	0.08874	0.736000	0.26130	1.257000	0.44085	0.555000	0.69702	CCA		0.602	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				16	16	0	0	0	1	0	16	16				
URB2	9816	broad.mit.edu	37	1	229773414	229773414	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229773414C>A	ENST00000258243.2	+	4	3190	c.3054C>A	c.(3052-3054)agC>agA	p.S1018R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1018						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAAGCTGAGCTTGGTGCTCA	0.453																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3052-3054)agC>agA		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							73.0	73.0	73.0					1																	229773414		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773414C>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3054C>A	1.37:g.229773414C>A	ENSP00000258243:p.Ser1018Arg						p.S1018R	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	3190	+			1018					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3054C>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209230	0.58343	.	.	ENSG00000135763	ENST00000258243	T	0.57273	0.41	5.54	-1.37	0.09056	.	0.039150	0.85682	D	0.000000	T	0.53351	0.1791	L	0.36672	1.1	0.39084	D	0.96097	D	0.69078	0.997	P	0.62435	0.902	T	0.51260	-0.8728	9	.	.	.	-16.7618	11.6746	0.51422	0.0:0.3148:0.0:0.6852	.	1018	Q14146	URB2_HUMAN	R	1018	ENSP00000258243:S1018R	.	S	+	3	2	URB2	227840037	0.001000	0.12720	0.147000	0.22382	0.915000	0.54546	-0.498000	0.06420	-0.176000	0.10707	0.585000	0.79938	AGC		0.453	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		20	45	1	0	0.000132079	1	0.000145887	20	45				
DCAF4L2	138009	broad.mit.edu	37	8	88885738	88885738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885738G>T	ENST00000319675.3	-	1	558	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	154										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCACGGCACAGCTTGGAGTAT	0.552																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(460-462)agC>agA		DDB1 and CUL4 associated factor 4-like 2							95.0	89.0	91.0					8																	88885738		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885738G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.462C>A	8.37:g.88885738G>T	ENSP00000316496:p.Ser154Arg						p.S154R	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	558	-			154						Missense_Mutation	SNP	ENST00000319675.3	37	c.462C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.529147	0.27387	.	.	ENSG00000176566	ENST00000319675	T	0.70749	-0.51	1.39	-0.844	0.10741	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.044601	0.85682	D	0.000000	T	0.56978	0.2022	L	0.40543	1.245	0.09310	N	1	P	0.44429	0.835	B	0.42555	0.391	T	0.54417	-0.8297	10	0.72032	D	0.01	.	5.8745	0.18822	0.3954:0.0:0.6046:0.0	.	154	Q8NA75	DC4L2_HUMAN	R	154	ENSP00000316496:S154R	ENSP00000316496:S154R	S	-	3	2	DCAF4L2	88954854	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	1.002000	0.29796	-0.634000	0.05538	-1.595000	0.00837	AGC		0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		13	50	1	0	0.00010058	1	0.000111121	13	50				
LRRC16A	55604	broad.mit.edu	37	6	25471461	25471461	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25471461T>C	ENST00000329474.6	+	10	1123	c.755T>C	c.(754-756)gTg>gCg	p.V252A	LRRC16A_ENST00000377969.3_Missense_Mutation_p.V91A	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	252					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAGAATTGGTGTTGGAAAAT	0.363																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(754-756)gTg>gCg		leucine rich repeat containing 16A							150.0	143.0	145.0					6																	25471461		1846	4097	5943	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25471461T>C	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.755T>C	6.37:g.25471461T>C	ENSP00000331983:p.Val252Ala					LRRC16A_ENST00000377969.3_Missense_Mutation_p.V91A	p.V252A	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			10	1123	+			252					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.755T>C	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300075	0.81136	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.52983	0.64;0.64	5.3	5.3	0.74995	.	0.069823	0.56097	D	0.000021	T	0.56156	0.1966	M	0.72118	2.19	0.58432	D	0.999996	D;D;D;P	0.76494	0.997;0.992;0.999;0.942	P;P;D;B	0.63113	0.817;0.817;0.911;0.419	T	0.56238	-0.8012	10	0.35671	T	0.21	.	15.5447	0.76090	0.0:0.0:0.0:1.0	.	252;252;252;91	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	A	252;252;91	ENSP00000331983:V252A;ENSP00000367206:V91A	ENSP00000331983:V252A	V	+	2	0	LRRC16A	25579440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.736000	0.74811	2.127000	0.65507	0.528000	0.53228	GTG		0.363	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		28	47	0	0	0	1	0	28	47				
TTC29	83894	broad.mit.edu	37	4	147824791	147824791	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147824791T>A	ENST00000325106.4	-	6	717	c.491A>T	c.(490-492)gAa>gTa	p.E164V	TTC29_ENST00000513335.1_Missense_Mutation_p.E190V|TTC29_ENST00000398886.4_Missense_Mutation_p.E190V	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	164										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAAACATCGTTCATAGAAGTG	0.413																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(568-570)gAa>gTa		tetratricopeptide repeat domain 29							87.0	85.0	85.0					4																	147824791		1883	4113	5996	SO:0001583	missense	83894						binding	g.chr4:147824791T>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.491A>T	4.37:g.147824791T>A	ENSP00000316740:p.Glu164Val					TTC29_ENST00000325106.4_Missense_Mutation_p.E164V|TTC29_ENST00000398886.4_Missense_Mutation_p.E190V	p.E190V			Q8NA56	TTC29_HUMAN			7	768	-	all_hematologic(180;0.151)		164					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.569A>T	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096424	0.36952	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.62	4.42	0.53409	.	0.298918	0.35870	N	0.002928	T	0.30947	0.0781	M	0.72118	2.19	0.35814	D	0.824104	P;P;P	0.50369	0.846;0.934;0.846	B;P;B	0.52343	0.265;0.696;0.265	T	0.42548	-0.9445	10	0.59425	D	0.04	-14.413	11.5141	0.50511	0.0:0.0:0.15:0.85	.	164;190;164	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	V	190;190;164;164;164	ENSP00000423505:E190V;ENSP00000381861:E190V;ENSP00000316740:E164V;ENSP00000425778:E164V	ENSP00000316740:E164V	E	-	2	0	TTC29	148044241	0.999000	0.42202	0.657000	0.29651	0.417000	0.31264	3.814000	0.55643	0.936000	0.37367	0.528000	0.53228	GAA		0.413	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		13	18	0	0	0	1	0	13	18				
KIAA2022	340533	broad.mit.edu	37	X	73960348	73960348	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960348A>G	ENST00000055682.6	-	3	4655	c.4044T>C	c.(4042-4044)caT>caC	p.H1348H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1348					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGATCCCCATGGTGCTCCA	0.458																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4042-4044)caT>caC		KIAA2022							68.0	64.0	65.0					X																	73960348		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960348A>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4044T>C	X.37:g.73960348A>G						KIAA2022_ENST00000055682.5_Silent_p.H1348H	p.H1348H			Q5QGS0	K2022_HUMAN			3	4695	-			1348					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.4044T>C	CCDS35337.1																																																																																				0.458	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		8	56	0	0	0	1	0	8	56				
CEP350	9857	broad.mit.edu	37	1	180012259	180012259	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180012259G>A	ENST00000367607.3	+	20	4849	c.4431G>A	c.(4429-4431)ctG>ctA	p.L1477L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1477					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGCAATACTGTATGACCACC	0.428																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4429-4431)ctG>ctA		centrosomal protein 350kDa							149.0	138.0	142.0					1																	180012259		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180012259G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4431G>A	1.37:g.180012259G>A							p.L1477L	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			20	4849	+			1477					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.4431G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	4.208	0.037350	0.08148	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.9	-3.27	0.05048	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.50039	D	0.999847	.	.	.	.	.	.	T	0.34527	-0.9825	4	.	.	.	.	3.1676	0.06541	0.3544:0.098:0.438:0.1096	.	.	.	.	I	86	.	.	V	+	1	0	CEP350	178278882	0.164000	0.22935	0.390000	0.26220	0.391000	0.30476	-0.832000	0.04400	-0.361000	0.08125	-0.258000	0.10820	GTA		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		9	106	0	0	0	1	0	9	106				
PMS1	5378	broad.mit.edu	37	2	190718693	190718693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190718693G>A	ENST00000441310.2	+	8	1084	c.851G>A	c.(850-852)tGc>tAc	p.C284Y	PMS1_ENST00000447232.2_Missense_Mutation_p.C284Y|PMS1_ENST00000418224.3_Missense_Mutation_p.C108Y|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.C245Y|PMS1_ENST00000432292.3_Missense_Mutation_p.C108Y	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	284					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.C284F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATCTGAAATGCCTAAAGGAA	0.289			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			1	Substitution - Missense(1)	p.C284F(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(850-852)tGc>tAc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							77.0	71.0	73.0					2																	190718693		2201	4295	6496	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190718693G>A		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.851G>A	2.37:g.190718693G>A	ENSP00000406490:p.Cys284Tyr					PMS1_ENST00000432292.3_Missense_Mutation_p.C108Y|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.C108Y|PMS1_ENST00000409823.3_Missense_Mutation_p.C245Y|PMS1_ENST00000447232.2_Missense_Mutation_p.C284Y	p.C284Y	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		8	1084	+			284					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.851G>A	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.938061	0.18206	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;T;T;T;T;T;T	0.80480	-1.31;-1.31;-1.38;-1.31;-1.31;-1.31;-1.31	4.6	4.6	0.57074	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.570429	0.21779	N	0.069222	T	0.70833	0.3269	L	0.36672	1.1	0.32257	N	0.570672	P;B;B;B;B;B;P	0.35944	0.529;0.086;0.078;0.026;0.375;0.069;0.529	B;B;B;B;B;B;B	0.43623	0.326;0.18;0.055;0.029;0.425;0.115;0.425	T	0.67643	-0.5618	10	0.02654	T	1	-7.4466	8.0489	0.30566	0.0:0.1343:0.5306:0.3351	.	284;245;245;69;245;284;284	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	Y	108;284;108;245;284;108;223;69	ENSP00000406490:C284Y;ENSP00000404492:C108Y;ENSP00000387125:C245Y;ENSP00000401064:C284Y;ENSP00000398378:C108Y;ENSP00000389938:C223Y;ENSP00000387169:C69Y	ENSP00000376149:C108Y	C	+	2	0	PMS1	190426938	0.822000	0.29219	1.000000	0.80357	0.990000	0.78478	1.214000	0.32419	2.531000	0.85337	0.557000	0.71058	TGC		0.289	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			12	28	0	0	0	1	0	12	28				
PLCB3	5331	broad.mit.edu	37	11	64027527	64027527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64027527G>T	ENST00000540288.1	+	14	1655	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	PLCB3_ENST00000325234.5_Missense_Mutation_p.G451C|PLCB3_ENST00000279230.6_Missense_Mutation_p.G518C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	518					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGCTGCCCAGGCCTGAGCAA	0.622																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1552-1554)Ggc>Tgc		phospholipase C, beta 3 (phosphatidylinositol-specific)							30.0	31.0	31.0					11																	64027527		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64027527G>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1552G>T	11.37:g.64027527G>T	ENSP00000443631:p.Gly518Cys					PLCB3_ENST00000325234.5_Missense_Mutation_p.G451C|PLCB3_ENST00000279230.6_Missense_Mutation_p.G518C	p.G518C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			14	1655	+			518					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1552G>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723736	0.48728	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.21932	2.12;2.12;1.98	5.66	3.53	0.40419	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.949822	0.08892	N	0.878491	T	0.20861	0.0502	L	0.40543	1.245	0.38168	D	0.939249	P;P	0.37708	0.606;0.533	B;B	0.42625	0.393;0.198	T	0.27872	-1.0061	10	0.59425	D	0.04	.	5.0972	0.14739	0.1069:0.0:0.6844:0.2087	.	451;518	G5E960;Q01970	.;PLCB3_HUMAN	C	518;518;451	ENSP00000279230:G518C;ENSP00000443631:G518C;ENSP00000324660:G451C	ENSP00000279230:G518C	G	+	1	0	PLCB3	63784103	0.977000	0.34250	0.987000	0.45799	0.846000	0.48090	1.917000	0.39996	2.679000	0.91253	0.561000	0.74099	GGC		0.622	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			6	18	1	0	5.9392e-07	1	6.91975e-07	6	18				
DRP2	1821	broad.mit.edu	37	X	100486730	100486730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100486730C>T	ENST00000395209.3	+	3	621	c.94C>T	c.(94-96)Cga>Tga	p.R32*	DRP2_ENST00000538510.1_Nonsense_Mutation_p.R32*|DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Nonsense_Mutation_p.R32*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	32					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGCAGCCTCCGAAGCACCTG	0.542																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(94-96)Cga>Tga		dystrophin related protein 2							116.0	96.0	103.0					X																	100486730		2203	4300	6503	SO:0001587	stop_gained	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100486730C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.94C>T	X.37:g.100486730C>T	ENSP00000378635:p.Arg32*					DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Nonsense_Mutation_p.R32*|DRP2_ENST00000538510.1_Nonsense_Mutation_p.R32*	p.R32*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			3	621	+			32					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Nonsense_Mutation	SNP	ENST00000395209.3	37	c.94C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	c	38	6.730938	0.97796	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	.	.	.	5.82	3.85	0.44370	.	0.351880	0.21054	N	0.080959	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1815	5.8716	0.18807	0.5553:0.3383:0.0:0.1064	.	.	.	.	X	32	.	ENSP00000362007:R32X	R	+	1	2	DRP2	100373386	0.999000	0.42202	0.983000	0.44433	0.941000	0.58515	0.699000	0.25586	0.541000	0.28827	0.597000	0.82753	CGA		0.542	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		35	52	0	0	0	1	0	35	52				
NMUR1	10316	broad.mit.edu	37	2	232390003	232390003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232390003G>T	ENST00000305141.4	-	3	1165	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	344					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGTAGAAGAAGATGCCGG	0.657																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(1030-1032)ttC>ttA		neuromedin U receptor 1							75.0	69.0	71.0					2																	232390003		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232390003G>T	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.1032C>A	2.37:g.232390003G>T	ENSP00000305877:p.Phe344Leu						p.F344L	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1165	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	344					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.1032C>A	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	G	4.106	0.017822	0.07959	.	.	ENSG00000171596	ENST00000305141	T	0.28454	1.61	4.79	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.174615	0.51477	N	0.000093	T	0.14270	0.0345	N	0.05414	-0.055	0.42829	D	0.994018	B	0.19817	0.039	B	0.29785	0.107	T	0.08452	-1.0721	10	0.05959	T	0.93	-31.5495	9.2923	0.37793	0.0:0.1584:0.6775:0.1641	.	344	Q9HB89	NMUR1_HUMAN	L	344	ENSP00000305877:F344L	ENSP00000305877:F344L	F	-	3	2	NMUR1	232098247	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	3.432000	0.52824	1.205000	0.43262	0.555000	0.69702	TTC		0.657	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		26	41	1	0	2.12542e-12	1	2.67336e-12	26	41				
HECW1	23072	broad.mit.edu	37	7	43483896	43483896	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43483896C>T	ENST00000395891.2	+	11	1730	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	HECW1_ENST00000453890.1_Silent_p.S375S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S354S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGATGGAAAGCGGCAGTGGGG	0.552																																						ENST00000395891.1																			1	Substitution - coding silent(1)	p.S354S(1)	large_intestine(1)	NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1123-1125)agC>agT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							57.0	64.0	62.0					7																	43483896		2105	4225	6330	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483896C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1125C>T	7.37:g.43483896C>T						HECW1_ENST00000453890.1_Silent_p.S375S	p.S375S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1730	+			375					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1125C>T	CCDS5469.2																																																																																				0.552	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	32	0	0	0	1	0	11	32				
ADAMTSL4	54507	broad.mit.edu	37	1	150525644	150525644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525644C>T	ENST00000369038.2	+	3	550	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.Q117*			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	117					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAGGACACAGTCTCGGGG	0.667																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(349-351)Cag>Tag		ADAMTS-like 4							33.0	39.0	37.0					1																	150525644		2201	4284	6485	SO:0001587	stop_gained	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525644C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.349C>T	1.37:g.150525644C>T	ENSP00000358034:p.Gln117*					ADAMTSL4_ENST00000369038.2_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.Q117*|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.Q117*	p.Q117*	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	585	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		117					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Nonsense_Mutation	SNP	ENST00000369038.2	37	c.349C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272460	0.95429	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	.	.	.	4.46	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	5.2356	0.15445	0.0:0.512:0.3594:0.1285	.	.	.	.	X	117	.	ENSP00000271643:Q117X	Q	+	1	0	ADAMTSL4	148792268	0.039000	0.19947	0.893000	0.35052	0.927000	0.56198	1.135000	0.31454	0.845000	0.35118	0.561000	0.74099	CAG		0.667	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		30	49	0	0	0	1	0	30	49				
PRUNE2	158471	broad.mit.edu	37	9	79324162	79324162	+	Missense_Mutation	SNP	T	T	G	rs560918476		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79324162T>G	ENST00000376718.3	-	8	3151	c.3028A>C	c.(3028-3030)Att>Ctt	p.I1010L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.I651L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1010					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGAGGAGGAATGTCAGTCTCC	0.453																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(1951-1953)Att>Ctt		prune homolog 2 (Drosophila)							131.0	104.0	113.0					9																	79324162		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324162T>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3028A>C	9.37:g.79324162T>G	ENSP00000365908:p.Ile1010Leu					PRUNE2_ENST00000376718.3_Missense_Mutation_p.I1010L	p.I651L			Q8WUY3	PRUN2_HUMAN			8	3151	-			1010					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1951A>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.331|3.331	-0.136682|-0.136682	0.06711|0.06711	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.40476	.|1.03;1.03	5.94|5.94	-0.0595|-0.0595	0.13793|0.13793	.|.	.|1.953640	.|0.01748	.|N	.|0.029762	T|T	0.29491|0.29491	0.0735|0.0735	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.08055	.|0.003	T|T	0.22941|0.22941	-1.0202|-1.0202	5|10	.|0.28530	.|T	.|0.3	3.0249|3.0249	11.2002|11.2002	0.48736|0.48736	0.0:0.5111:0.0:0.4889|0.0:0.5111:0.0:0.4889	.|.	.|1010	.|Q8WUY3	.|PRUN2_HUMAN	P|L	331|1010;651;1009	.|ENSP00000365908:I1010L;ENSP00000397425:I651L	.|ENSP00000365908:I1010L	H|I	-|-	2|1	0|0	PRUNE2|PRUNE2	78513982|78513982	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	.|.	.|.	-0.020000|-0.020000	0.14032|0.14032	-0.441000|-0.441000	0.05720|0.05720	CAT|ATT		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		12	29	0	0	0	1	0	12	29				
OR4M1	441670	broad.mit.edu	37	14	20248802	20248802	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248802T>G	ENST00000315957.4	+	1	402	c.321T>G	c.(319-321)gtT>gtG	p.V107V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACACTTTGTTGGGGCTTCGG	0.473																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(319-321)gtT>gtG		olfactory receptor, family 4, subfamily M, member 1							231.0	249.0	243.0					14																	20248802		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248802T>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.321T>G	14.37:g.20248802T>G							p.V107V	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	402	+	all_cancers(95;0.00108)		107					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.321T>G	CCDS32021.1																																																																																				0.473	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			11	294	0	0	0	1	0	11	294				
PLEC	5339	broad.mit.edu	37	8	145024784	145024784	+	Missense_Mutation	SNP	G	G	A	rs201184249	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145024784G>A	ENST00000322810.4	-	1	260	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	31	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R31R(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGCCGCCGGTCCTTCTTG	0.697													G|||	4	0.000798722	0.0	0.0	5008	,	,		13021	0.001		0.0	False		,,,				2504	0.0031					ENST00000322810.4																			1	Substitution - coding silent(1)	p.R31R(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(91-93)Cgg>Tgg		plectin							9.0	13.0	11.0					8																	145024784		2076	4174	6250	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024784G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.91C>T	8.37:g.145024784G>A	ENSP00000323856:p.Arg31Trp					PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	p.R31W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	260	-			31			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.91C>T	CCDS43772.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.90	1.480142	0.26598	.	.	ENSG00000178209	ENST00000322810	T	0.76968	-1.06	4.9	3.06	0.35304	Plectin/S10, N-terminal (1);	0.775582	0.10222	N	0.700769	T	0.61324	0.2338	N	0.12182	0.205	0.80722	D	1	B	0.19706	0.038	B	0.12837	0.008	T	0.52434	-0.8576	10	0.72032	D	0.01	.	8.2544	0.31746	0.0897:0.1585:0.7517:0.0	.	31	Q15149	PLEC_HUMAN	W	31	ENSP00000323856:R31W	ENSP00000323856:R31W	R	-	1	2	PLEC	145096772	0.200000	0.23398	0.161000	0.22692	0.461000	0.32589	0.504000	0.22626	0.451000	0.26802	0.563000	0.77884	CGG		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	2	0	0	0	1	0	3	2				
CTNND2	1501	broad.mit.edu	37	5	11236855	11236855	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11236855G>A	ENST00000304623.8	-	10	1898	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	CTNND2_ENST00000458100.2_Missense_Mutation_p.A137V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.A479V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A233V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A570V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	570					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGCTGCCGCGTTAGACTG	0.473																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1708-1710)gCg>gTg		catenin (cadherin-associated protein), delta 2							123.0	126.0	125.0					5																	11236855		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236855G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1709C>T	5.37:g.11236855G>A	ENSP00000307134:p.Ala570Val					CTNND2_ENST00000511377.1_Missense_Mutation_p.A479V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A233V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A570V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A137V	p.A570V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			10	1898	-			570					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1709C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699492	0.88830	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.75484	0.936;0.881;0.986	T	0.82914	-0.0221	10	0.87932	D	0	-11.3108	20.0734	0.97734	0.0:0.0:1.0:0.0	.	233;137;570	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	570;570;479;137;233	ENSP00000307134:A570V;ENSP00000352661:A570V;ENSP00000426510:A479V;ENSP00000391155:A137V;ENSP00000426887:A233V	ENSP00000307134:A570V	A	-	2	0	CTNND2	11289855	1.000000	0.71417	0.969000	0.41365	0.346000	0.29079	9.869000	0.99810	2.751000	0.94390	0.555000	0.69702	GCG		0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		43	80	0	0	0	1	0	43	80				
AREG	374	broad.mit.edu	37	4	75314872	75314872	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75314872G>T	ENST00000395748.3	+	3	631	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AREG_ENST00000511560.1_3'UTR|AREG_ENST00000502307.1_Missense_Mutation_p.R140I|AREG_ENST00000264487.2_Missense_Mutation_p.R140I	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	140					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			agaagaaacagaaagaagaaa	0.353																																						ENST00000395748.3																			0				lung(4)	4						c.(418-420)aGa>aTa		amphiregulin							5.0	5.0	5.0					4																	75314872		1689	3816	5505	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75314872G>T	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.419G>T	4.37:g.75314872G>T	ENSP00000379097:p.Arg140Ile					AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.R140I|AREG_ENST00000502307.1_Missense_Mutation_p.R140I	p.R140I	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	Lung(101;0.196)		3	631	+			140					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.419G>T	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450630	0.63290	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.45276	0.9;0.9;0.9	4.89	-2.1	0.07210	.	0.555881	0.21376	N	0.075548	T	0.27967	0.0689	L	0.44542	1.39	0.35292	D	0.782251	P	0.36249	0.545	B	0.29440	0.102	T	0.18935	-1.0321	10	0.59425	D	0.04	-5.0553	10.6465	0.45623	0.8067:0.0:0.1933:0.0	.	140	P15514	AREG_HUMAN	I	140	ENSP00000379097:R140I;ENSP00000264487:R140I;ENSP00000421414:R140I	ENSP00000264487:R140I	R	+	2	0	AREG	75533736	0.470000	0.25854	0.242000	0.24170	0.938000	0.57974	-0.070000	0.11523	-0.496000	0.06650	-0.259000	0.10710	AGA		0.353	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			8	9	1	0	8.00594e-06	1	9.12844e-06	8	9				
SESN3	143686	broad.mit.edu	37	11	94918426	94918426	+	Silent	SNP	G	G	A	rs138689867		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94918426G>A	ENST00000536441.1	-	5	1092	c.756C>T	c.(754-756)aaC>aaT	p.N252N	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Silent_p.N252N|SESN3_ENST00000416495.2_Silent_p.N252N|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Silent_p.N113N	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	252					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TAACCCCAAAGTTGCTGCCTG	0.313																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(754-756)aaC>aaT		sestrin 3		G		1,4401	2.1+/-5.4	0,1,2200	164.0	169.0	167.0		756	4.7	1.0	11	dbSNP_134	167	0,8596		0,0,4298	no	coding-synonymous	SESN3	NM_144665.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		252/493	94918426	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	143686				cell cycle arrest	nucleus		g.chr11:94918426G>A	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.756C>T	11.37:g.94918426G>A						SESN3_ENST00000416495.2_Silent_p.N252N|SESN3_ENST00000278499.2_Silent_p.N113N|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Silent_p.N252N|RP11-712B9.2_ENST00000534891.1_RNA	p.N252N	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	5	1092	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	252					B7Z7P9|Q96AD1	Silent	SNP	ENST00000536441.1	37	c.756C>T	CCDS8303.1																																																																																				0.313	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		89	130	0	0	0	1	0	89	130				
PRMT2	3275	broad.mit.edu	37	21	48068466	48068466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48068466C>A	ENST00000397637.1	+	5	1378	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	PRMT2_ENST00000397628.1_Missense_Mutation_p.L142M|PRMT2_ENST00000458387.2_Missense_Mutation_p.L142M|PRMT2_ENST00000451211.2_Missense_Mutation_p.L142M|PRMT2_ENST00000397638.2_Missense_Mutation_p.L142M|PRMT2_ENST00000440086.1_Missense_Mutation_p.L142M|PRMT2_ENST00000334494.4_Missense_Mutation_p.L142M|PRMT2_ENST00000355680.3_Missense_Mutation_p.L142M|PRMT2_ENST00000291705.6_Missense_Mutation_p.L142M|PRMT2_ENST00000491389.1_3'UTR			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	142	Interaction with ESR1.|Interaction with RB1. {ECO:0000250}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TAAAGTCATCCTGGACGTGGG	0.537																																						ENST00000397637.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(424-426)Ctg>Atg		protein arginine methyltransferase 2							170.0	153.0	159.0					21																	48068466		2203	4300	6503	SO:0001583	missense	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48068466C>A	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.424C>A	21.37:g.48068466C>A	ENSP00000380759:p.Leu142Met					PRMT2_ENST00000451211.2_Missense_Mutation_p.L142M|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000397628.1_Missense_Mutation_p.L142M|PRMT2_ENST00000458387.2_Missense_Mutation_p.L142M|PRMT2_ENST00000291705.6_Missense_Mutation_p.L142M|PRMT2_ENST00000355680.3_Missense_Mutation_p.L142M|PRMT2_ENST00000440086.1_Missense_Mutation_p.L142M|PRMT2_ENST00000334494.4_Missense_Mutation_p.L142M|PRMT2_ENST00000397638.2_Missense_Mutation_p.L142M	p.L142M			P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	5	1378	+	Breast(49;0.247)	Lung NSC(3;0.245)	142			Interaction with ESR1.|Interaction with RB1 (By similarity).		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	c.424C>A	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270680	0.23221	.	.	ENSG00000160310	ENST00000355680;ENST00000397638;ENST00000458387;ENST00000451211;ENST00000291705;ENST00000397637;ENST00000334494;ENST00000397628;ENST00000440086	T;T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.14	4.18	0.49190	.	0.160805	0.44483	D	0.000448	T	0.65112	0.2660	L	0.45698	1.435	0.46096	D	0.998867	P;D;D;D;P;P	0.76494	0.953;0.984;0.999;0.999;0.861;0.844	P;P;D;D;P;P	0.83275	0.822;0.867;0.991;0.996;0.462;0.73	T	0.64816	-0.6318	10	0.52906	T	0.07	-8.1819	6.572	0.22543	0.0:0.7725:0.0:0.2275	.	142;142;142;142;28;142	B7U632;B7U630;B7U631;Q498Y5;Q49AF9;P55345	.;.;.;.;.;ANM2_HUMAN	M	142	ENSP00000347906:L142M;ENSP00000380760:L142M;ENSP00000407463:L142M;ENSP00000411984:L142M;ENSP00000291705:L142M;ENSP00000380759:L142M;ENSP00000335490:L142M;ENSP00000380752:L142M;ENSP00000397266:L142M	ENSP00000291705:L142M	L	+	1	2	PRMT2	46892894	0.973000	0.33851	0.974000	0.42286	0.202000	0.24057	0.512000	0.22755	1.226000	0.43582	0.655000	0.94253	CTG		0.537	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		8	108	1	0	0.0477658	1	0.0488009	8	108				
CASP10	843	broad.mit.edu	37	2	202082435	202082435	+	Intron	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202082435C>A	ENST00000272879.5	+	9	1599				CASP10_ENST00000346817.5_Missense_Mutation_p.P471T|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.P447T|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000286186.6_Missense_Mutation_p.P514T|CASP10_ENST00000448480.1_Intron	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACTAGTATTCCCTGTGCCCCT	0.468																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1540-1542)Cct>Act		caspase 10, apoptosis-related cysteine peptidase							171.0	158.0	162.0					2																	202082435		2203	4300	6503	SO:0001627	intron_variant	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202082435C>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1415+8150C>A	2.37:g.202082435C>A						CASP10_ENST00000346817.5_Missense_Mutation_p.P471T|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.P447T|CASP10_ENST00000492363.1_3'UTR	p.P514T	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			10	1975	+			0					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1540C>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350052	0.95830	.	.	ENSG00000003400	ENST00000286186;ENST00000346817;ENST00000313728	T;T;T	0.80304	-1.36;-1.36;-1.36	5.4	5.4	0.78164	.	0.176195	0.49305	D	0.000144	D	0.90048	0.6892	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.89917	0.4056	9	0.49607	T	0.09	.	19.1804	0.93620	0.0:1.0:0.0:0.0	.	447;471;514	Q92851-6;Q92851-2;Q92851-4	.;.;.	T	514;471;447	ENSP00000286186:P514T;ENSP00000237865:P471T;ENSP00000314599:P447T	ENSP00000286186:P514T	P	+	1	0	CASP10	201790680	0.981000	0.34729	0.799000	0.32177	0.648000	0.38561	2.946000	0.49050	2.520000	0.84964	0.655000	0.94253	CCT		0.468	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		49	91	1	0	1.63038e-21	1	2.14664e-21	49	91				
KCNK10	54207	broad.mit.edu	37	14	88729675	88729675	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88729675G>A	ENST00000340700.5	-	2	709	c.258C>T	c.(256-258)ggC>ggT	p.G86G	KCNK10_ENST00000312350.5_Silent_p.G91G|KCNK10_ENST00000319231.5_Silent_p.G91G	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	86					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGACAAGACCGCCAGTGACAA	0.562																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(256-258)ggC>ggT		potassium channel, subfamily K, member 10							101.0	86.0	91.0					14																	88729675		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729675G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.258C>T	14.37:g.88729675G>A						KCNK10_ENST00000319231.5_Silent_p.G91G|KCNK10_ENST00000312350.5_Silent_p.G91G	p.G86G	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			2	709	-			86					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.258C>T	CCDS9880.1																																																																																				0.562	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		34	40	0	0	0	1	0	34	40				
CDH10	1008	broad.mit.edu	37	5	24488135	24488135	+	Missense_Mutation	SNP	C	C	A	rs146231810		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24488135C>A	ENST00000264463.4	-	12	2511	c.2004G>T	c.(2002-2004)caG>caT	p.Q668H	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	668					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAAAGGCCTGGGTGTCCT	0.458										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2002-2004)caG>caT		cadherin 10, type 2 (T2-cadherin)							63.0	66.0	65.0					5																	24488135		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488135C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2004G>T	5.37:g.24488135C>A	ENSP00000264463:p.Gln668His	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.Q668H	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2511	-			668					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2004G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968396	0.53614	.	.	ENSG00000040731	ENST00000264463	T	0.77489	-1.1	5.46	3.67	0.42095	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.60845	1.875	0.44092	D	0.996851	P	0.34522	0.455	B	0.34301	0.179	T	0.68934	-0.5278	10	0.66056	D	0.02	.	7.4088	0.27006	0.0:0.6615:0.0:0.3385	.	668	Q9Y6N8	CAD10_HUMAN	H	668	ENSP00000264463:Q668H	ENSP00000264463:Q668H	Q	-	3	2	CDH10	24523892	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.553000	0.45837	0.675000	0.31264	0.655000	0.94253	CAG		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		4	61	1	0	0.00909568	1	0.00947522	4	61				
BRAF	673	broad.mit.edu	37	7	140500184	140500184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140500184C>T	ENST00000288602.6	-	7	1018	c.958G>A	c.(958-960)Gca>Aca	p.A320T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	320					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GAGGCGGGTGCGGAAGGGGAT	0.493		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(958-960)Gca>Aca		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						158.0	123.0	135.0					7																	140500184		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140500184C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.958G>A	7.37:g.140500184C>T	ENSP00000288602:p.Ala320Thr						p.A320T	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			7	1018	-	Melanoma(164;0.00956)		320					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.958G>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	6.737	0.504728	0.12822	.	.	ENSG00000157764	ENST00000288602	T	0.76316	-1.01	6.06	5.19	0.71726	.	0.298853	0.37906	N	0.001886	T	0.56673	0.2001	N	0.08118	0	0.32358	N	0.557527	B	0.02656	0.0	B	0.01281	0.0	T	0.57700	-0.7766	10	0.17369	T	0.5	.	10.8729	0.46894	0.0:0.8023:0.13:0.0677	.	320	P15056	BRAF_HUMAN	T	320	ENSP00000288602:A320T	ENSP00000288602:A320T	A	-	1	0	BRAF	140146653	0.994000	0.37717	0.978000	0.43139	0.159000	0.22180	2.860000	0.48372	1.575000	0.49775	0.650000	0.86243	GCA		0.493	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		50	42	0	0	0	1	0	50	42				
SATB1	6304	broad.mit.edu	37	3	18462280	18462280	+	Silent	SNP	C	C	T	rs138373358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18462280C>T	ENST00000338745.6	-	2	1914	c.180G>A	c.(178-180)tcG>tcA	p.S60S	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Silent_p.S60S|SATB1_ENST00000417717.2_Silent_p.S60S|SATB1_ENST00000454909.2_Silent_p.S60S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	60					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGATGGCCCGAGTGTTTTA	0.507																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(178-180)tcG>tcA		SATB homeobox 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	146.0	147.0	147.0		180,180,180	2.6	1.0	3	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SATB1	NM_001131010.2,NM_001195470.1,NM_002971.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	60/764,60/796,60/764	18462280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18462280C>T		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.180G>A	3.37:g.18462280C>T						SATB1_ENST00000493952.2_Silent_p.S60S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.S60S|SATB1_ENST00000417717.2_Silent_p.S60S	p.S60S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			2	1914	-			60					B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	c.180G>A	CCDS2631.1																																																																																				0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		9	128	0	0	0	1	0	9	128				
RAD54B	25788	broad.mit.edu	37	8	95470649	95470649	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95470649T>C	ENST00000336148.5	-	3	275	c.151A>G	c.(151-153)Aac>Gac	p.N51D	RAD54B_ENST00000297592.5_Missense_Mutation_p.N51D	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	51					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAAAGGTGTTATTAATTGCA	0.284								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(151-153)Aac>Gac	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							72.0	70.0	71.0					8																	95470649		2203	4298	6501	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95470649T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.151A>G	8.37:g.95470649T>C	ENSP00000336606:p.Asn51Asp					RAD54B_ENST00000297592.5_Missense_Mutation_p.N51D	p.N51D	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		3	275	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.151A>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	6.486	0.457862	0.12342	.	.	ENSG00000197275	ENST00000336148;ENST00000523839;ENST00000297592	D;T;T	0.88201	-2.35;1.57;1.55	3.08	1.9	0.25705	.	0.468088	0.18935	N	0.127087	T	0.78387	0.4275	N	0.22421	0.69	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.15484	0.013;0.0	T	0.66846	-0.5820	10	0.52906	T	0.07	-9.1524	5.2639	0.15588	0.0:0.1466:0.0:0.8534	.	51;51	F6WBS8;Q9Y620	.;RA54B_HUMAN	D	51	ENSP00000336606:N51D;ENSP00000428554:N51D;ENSP00000430153:N51D	ENSP00000430153:N51D	N	-	1	0	RAD54B	95539825	0.002000	0.14202	0.003000	0.11579	0.057000	0.15508	0.195000	0.17155	0.387000	0.25024	0.528000	0.53228	AAC		0.284	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		5	49	0	0	0	1	0	5	49				
TRIM8	81603	broad.mit.edu	37	10	104416970	104416970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104416970G>A	ENST00000302424.7	+	6	1637	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	505					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCACACCCGCTCCCGCCCA	0.667																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1513-1515)ccG>ccA		tripartite motif containing 8							49.0	45.0	46.0					10																	104416970		2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416970G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1515G>A	10.37:g.104416970G>A							p.P505P	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1637	+		Colorectal(252;0.122)	505					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.1515G>A	CCDS31274.1																																																																																				0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		10	15	0	0	0	1	0	10	15				
PIBF1	10464	broad.mit.edu	37	13	73401954	73401954	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73401954C>A	ENST00000326291.6	+	8	1337	c.999C>A	c.(997-999)cgC>cgA	p.R333R		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	333				R -> C (in Ref. 3; CAA70844). {ECO:0000305}.		centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTAGTGTTCGCTGTGCTCATG	0.393																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(997-999)cgC>cgA		progesterone immunomodulatory binding factor 1							110.0	99.0	102.0					13																	73401954		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73401954C>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.999C>A	13.37:g.73401954C>A							p.R333R	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	8	1337	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	333	R -> C (in Ref. 3; CAA70844).				O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.999C>A	CCDS31991.1																																																																																				0.393	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		6	63	1	0	0.0293803	1	0.0301098	6	63				
PCDHB14	56122	broad.mit.edu	37	5	140605187	140605187	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140605187T>C	ENST00000239449.4	+	1	2110	c.2110T>C	c.(2110-2112)Tcg>Ccg	p.S704P	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S551P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	704					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCTTCTCGGTGCTCCT	0.706																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2110-2112)Tcg>Ccg									79.0	91.0	87.0					5																	140605187		2199	4292	6491	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605187T>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2110T>C	5.37:g.140605187T>C	ENSP00000239449:p.Ser704Pro					PCDHB14_ENST00000515856.2_Missense_Mutation_p.S551P	p.S704P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2110	+			704					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2110T>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	17.25	3.341483	0.61073	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.20598	2.06;2.06	4.17	2.96	0.34315	.	.	.	.	.	T	0.53594	0.1806	H	0.97131	3.945	0.09310	N	1	D	0.60575	0.988	P	0.62649	0.905	T	0.49504	-0.8933	9	0.45353	T	0.12	.	8.1339	0.31043	0.3227:0.0:0.0:0.6773	.	704	Q9Y5E9	PCDBE_HUMAN	P	551;704	ENSP00000444518:S551P;ENSP00000239449:S704P	ENSP00000239449:S704P	S	+	1	0	PCDHB14	140585371	0.039000	0.19947	0.006000	0.13384	0.180000	0.23129	2.528000	0.45624	0.534000	0.28695	0.529000	0.55759	TCG		0.706	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		7	133	0	0	0	1	0	7	133				
DNAH2	146754	broad.mit.edu	37	17	7644154	7644154	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7644154G>T	ENST00000572933.1	+	11	2993	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	DNAH2_ENST00000082259.3_Missense_Mutation_p.K593N|DNAH2_ENST00000570791.1_Missense_Mutation_p.K593N|DNAH2_ENST00000389173.2_Missense_Mutation_p.K511N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	511	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGACAAGAAGGCGGTGGATC	0.572																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1531-1533)aaG>aaT		dynein, axonemal, heavy chain 2							119.0	110.0	113.0					17																	7644154		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7644154G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1533G>T	17.37:g.7644154G>T	ENSP00000458355:p.Lys511Asn					DNAH2_ENST00000570791.1_Missense_Mutation_p.K593N|DNAH2_ENST00000389173.2_Missense_Mutation_p.K511N|DNAH2_ENST00000082259.3_Missense_Mutation_p.K593N	p.K511N			Q9P225	DYH2_HUMAN			11	2993	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	511			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1533G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821566	0.50633	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.59772	0.24;0.24	5.19	0.206	0.15208	Dynein heavy chain, domain-1 (1);	0.114918	0.56097	D	0.000027	T	0.58192	0.2105	M	0.75615	2.305	0.27879	N	0.939766	B;B	0.26363	0.023;0.147	B;B	0.38985	0.13;0.287	T	0.59150	-0.7508	10	0.72032	D	0.01	.	6.3431	0.21335	0.3136:0.1392:0.5471:0.0	.	511;593	Q9P225;Q9P225-3	DYH2_HUMAN;.	N	511;511;593	ENSP00000373825:K511N;ENSP00000082259:K593N	ENSP00000082259:K593N	K	+	3	2	DNAH2	7584879	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	1.843000	0.39259	0.198000	0.20407	0.551000	0.68910	AAG		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	74	1	0	0.000602214	1	0.000649039	5	74				
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314193	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314193T>C	ENST00000316077.9	-	8	1143	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273R|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290R	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)cAg>cGg		MAP7 domain containing 3							179.0	175.0	176.0					X																	135314193		2047	4174	6221	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314193T>C	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923A>G	X.37:g.135314193T>C	ENSP00000318086:p.Gln308Arg					MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290R|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273R	p.Q308R	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1143	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.923A>G	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	5.867	0.344145	0.11126	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	3.95	-2.44	0.06502	.	.	.	.	.	T	0.03011	0.0089	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.35363	0.105;0.497;0.364;0.331	B;B;B;B	0.28465	0.048;0.09;0.077;0.09	T	0.40572	-0.9556	9	0.12103	T	0.63	-0.5645	0.85	0.01170	0.1552:0.1994:0.3132:0.3322	.	290;267;308;273	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	R	273;308;290;267	ENSP00000359695:Q273R;ENSP00000318086:Q308R;ENSP00000359697:Q290R;ENSP00000359694:Q267R	ENSP00000318086:Q308R	Q	-	2	0	MAP7D3	135141859	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.171000	0.09883	-0.697000	0.05092	-0.459000	0.05422	CAG		0.537	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			17	261	0	0	0	1	0	17	261				
ZNF282	8427	broad.mit.edu	37	7	148909549	148909549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148909549C>T	ENST00000262085.3	+	6	1157	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ZNF282_ENST00000479907.1_Missense_Mutation_p.T351M	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	351					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GATATTCCCACGGATCCCAAT	0.433																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1051-1053)aCg>aTg		zinc finger protein 282							71.0	62.0	65.0					7																	148909549		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148909549C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1052C>T	7.37:g.148909549C>T	ENSP00000262085:p.Thr351Met					ZNF282_ENST00000479907.1_Missense_Mutation_p.T351M	p.T351M	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	6	1157	+	Melanoma(164;0.15)		351					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1052C>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875613	0.72180	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.09073	3.02;4.85	5.38	5.38	0.77491	.	0.120845	0.37577	N	0.002033	T	0.23926	0.0579	M	0.62723	1.935	0.37471	D	0.915628	D;D;D	0.89917	1.0;0.998;0.998	P;P;D	0.64877	0.894;0.858;0.93	T	0.01280	-1.1397	10	0.45353	T	0.12	-17.9532	14.6551	0.68828	0.0:1.0:0.0:0.0	.	351;323;351	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	M	351	ENSP00000262085:T351M;ENSP00000418840:T351M	ENSP00000262085:T351M	T	+	2	0	ZNF282	148540482	0.022000	0.18835	0.984000	0.44739	0.950000	0.60333	2.746000	0.47467	2.529000	0.85273	0.655000	0.94253	ACG		0.433	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		4	18	0	0	0	1	0	4	18				
TMPRSS3	64699	broad.mit.edu	37	21	43795969	43795969	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43795969G>A	ENST00000291532.3	-	12	2158	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	TMPRSS3_ENST00000433957.2_Silent_p.S400S|TMPRSS3_ENST00000380399.1_Silent_p.S485S|TMPRSS3_ENST00000398405.1_Silent_p.S398S|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	401	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGGGCCCCCCGCTGTCCCCCT	0.597																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(1201-1203)agC>agT		transmembrane protease, serine 3							94.0	105.0	101.0					21																	43795969		2203	4300	6503	SO:0001819	synonymous_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43795969G>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1203C>T	21.37:g.43795969G>A						TMPRSS3_ENST00000380399.1_Silent_p.S485S|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.S400S|TMPRSS3_ENST00000398405.1_Silent_p.S398S	p.S401S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			12	2158	-			401			Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	c.1203C>T	CCDS13686.1																																																																																				0.597	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			59	108	0	0	0	1	0	59	108				
POLR1A	25885	broad.mit.edu	37	2	86254575	86254575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86254575G>T	ENST00000263857.6	-	34	5512	c.5134C>A	c.(5134-5136)Ctg>Atg	p.L1712M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L1651M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1712					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCTCGAACAGGCCTGTCCCG	0.612																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(5134-5136)Ctg>Atg		polymerase (RNA) I polypeptide A, 194kDa							70.0	79.0	76.0					2																	86254575		2091	4222	6313	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86254575G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.5134C>A	2.37:g.86254575G>T	ENSP00000263857:p.Leu1712Met					POLR1A_ENST00000409681.1_Missense_Mutation_p.L1651M	p.L1712M			O95602	RPA1_HUMAN			34	5512	-			1712					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.5134C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645976	0.47258	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69306	-0.39;-0.39	5.36	5.36	0.76844	.	0.076984	0.53938	D	0.000055	T	0.69223	0.3087	L	0.50993	1.605	0.39287	D	0.964669	D	0.63880	0.993	P	0.56343	0.796	T	0.71537	-0.4563	10	0.46703	T	0.11	-13.2665	7.8443	0.29417	0.1767:0.0:0.8233:0.0	.	1712	O95602	RPA1_HUMAN	M	1712;1651	ENSP00000263857:L1712M;ENSP00000386300:L1651M	ENSP00000263857:L1712M	L	-	1	2	POLR1A	86108086	1.000000	0.71417	0.987000	0.45799	0.355000	0.29361	5.265000	0.65519	2.502000	0.84385	0.655000	0.94253	CTG		0.612	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		32	58	1	0	3.76114e-14	1	4.79375e-14	32	58				
WDR81	124997	broad.mit.edu	37	17	1634379	1634379	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1634379C>A	ENST00000409644.1	+	4	3984	c.3984C>A	c.(3982-3984)gcC>gcA	p.A1328A	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.A101A|WDR81_ENST00000309182.5_Silent_p.A277A|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000437219.2_Silent_p.A125A	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1328					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGGAGTGCCTCAGGCCCCA	0.677																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3982-3984)gcC>gcA		WD repeat domain 81							24.0	25.0	24.0					17																	1634379		2203	4300	6503	SO:0001819	synonymous_variant	124997							g.chr17:1634379C>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3984C>A	17.37:g.1634379C>A						WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000437219.2_Silent_p.A125A|WDR81_ENST00000419248.1_Silent_p.A101A|WDR81_ENST00000309182.5_Silent_p.A277A|WDR81_ENST00000545662.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	p.A1328A	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	3984	+			101					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.3984C>A	CCDS54062.1																																																																																				0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		6	19	1	0	0.00198382	1	0.00210581	6	19				
CACNB2	783	broad.mit.edu	37	10	18807845	18807845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18807845G>T	ENST00000324631.7	+	9	952	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	CACNB2_ENST00000377329.4_Missense_Mutation_p.D244Y|CACNB2_ENST00000396576.2_Missense_Mutation_p.D243Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.D274Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D250Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.D270Y|CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.D246Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.D205Y	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	298					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGGTCACAGATATGATGCA	0.333																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(727-729)Gat>Tat		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						137.0	138.0	137.0					10																	18807845		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18807845G>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.892G>T	10.37:g.18807845G>T	ENSP00000320025:p.Asp298Tyr					CACNB2_ENST00000282343.8_Missense_Mutation_p.D270Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.D274Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D250Y|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.D246Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.D205Y|CACNB2_ENST00000324631.7_Missense_Mutation_p.D298Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.D244Y|CACNB2_ENST00000377328.1_Intron	p.D243Y	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			8	1228	+			298					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.727G>T	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708566	0.89018	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.3	5.3	0.74995	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.94076	0.8101	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95049	0.8185	10	0.87932	D	0	-19.279	17.867	0.88797	0.0:0.0:1.0:0.0	.	212;212;244;270;250;220;244;254;205;246;270;260;274;298	B7Z1U5;B7Z2U3;Q5QJ99;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Y	298;274;270;246;243;205;244;250	ENSP00000320025:D298Y;ENSP00000344474:D274Y;ENSP00000282343:D270Y;ENSP00000366548:D246Y;ENSP00000379821:D243Y;ENSP00000366536:D205Y;ENSP00000366546:D244Y;ENSP00000366532:D250Y	ENSP00000282343:D270Y	D	+	1	0	CACNB2	18847851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.645000	0.89757	0.650000	0.86243	GAT		0.333	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		10	106	1	0	0.00010058	1	0.000111121	10	106				
ANO1	55107	broad.mit.edu	37	11	70017073	70017073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70017073G>A	ENST00000355303.5	+	22	2583	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ANO1_ENST00000538023.1_Missense_Mutation_p.E760K|ANO1_ENST00000398543.2_Missense_Mutation_p.E614K|ANO1_ENST00000531349.1_Missense_Mutation_p.E469K|ANO1_ENST00000530676.1_Missense_Mutation_p.E614K|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	760					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CAACATCATCGAGATCCGCCT	0.592																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2278-2280)Gag>Aag		anoctamin 1, calcium activated chloride channel							59.0	63.0	62.0					11																	70017073		2057	4216	6273	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70017073G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2278G>A	11.37:g.70017073G>A	ENSP00000347454:p.Glu760Lys					ANO1_ENST00000398543.2_Missense_Mutation_p.E614K|ANO1_ENST00000531349.1_Missense_Mutation_p.E469K|ANO1_ENST00000538023.1_Missense_Mutation_p.E760K|ANO1_ENST00000530676.1_Missense_Mutation_p.E614K|ANO1_ENST00000525494.1_3'UTR	p.E760K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			22	2583	+			760					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2278G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316713	0.95682	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	4.39	4.39	0.52855	.	0.114714	0.56097	D	0.000021	D	0.88157	0.6361	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.91814	0.5462	9	.	.	.	.	17.3611	0.87350	0.0:0.0:1.0:0.0	.	469;760	E9PNA7;Q5XXA6	.;ANO1_HUMAN	K	760;760;614;518;614;469;87	ENSP00000347454:E760K;ENSP00000444689:E760K;ENSP00000381551:E614K;ENSP00000435797:E614K;ENSP00000432843:E469K	.	E	+	1	0	ANO1	69694721	1.000000	0.71417	0.994000	0.49952	0.899000	0.52679	9.553000	0.98118	2.185000	0.69588	0.462000	0.41574	GAG		0.592	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	9	0	0	0	1	0	6	9				
MIS18BP1	55320	broad.mit.edu	37	14	45687570	45687570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45687570C>A	ENST00000310806.4	-	12	3215	c.2757G>T	c.(2755-2757)caG>caT	p.Q919H		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	919	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTATTTCCTCTGGCATTCTT	0.453																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2755-2757)caG>caT		MIS18 binding protein 1							116.0	112.0	113.0					14																	45687570		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687570C>A	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2757G>T	14.37:g.45687570C>A	ENSP00000309790:p.Gln919His						p.Q919H	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			12	3215	-			919			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2757G>T	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924857	0.52759	.	.	ENSG00000129534	ENST00000310806	T	0.42513	0.97	5.53	4.63	0.57726	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.196371	0.56097	D	0.000039	T	0.33352	0.0860	L	0.55481	1.735	0.43896	D	0.996529	P	0.35272	0.493	B	0.26094	0.066	T	0.10086	-1.0645	10	0.23302	T	0.38	-6.9698	12.6294	0.56649	0.0:0.9172:0.0:0.0828	.	919	Q6P0N0	M18BP_HUMAN	H	919	ENSP00000309790:Q919H	ENSP00000309790:Q919H	Q	-	3	2	MIS18BP1	44757320	0.999000	0.42202	1.000000	0.80357	0.725000	0.41563	0.938000	0.28965	2.618000	0.88619	0.585000	0.79938	CAG		0.453	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			9	100	1	0	2.17888e-05	1	2.45068e-05	9	100				
RHBDL1	9028	broad.mit.edu	37	16	727827	727827	+	Silent	SNP	G	G	A	rs536311737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:727827G>A	ENST00000219551.2	+	7	1119	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	STUB1_ENST00000219548.4_5'Flank|LA16c-313D11.9_ENST00000571933.1_RNA|RHBDL1_ENST00000352681.3_Silent_p.P299P|STUB1_ENST00000565677.1_5'Flank|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	364					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TCTCCCCGCCGCTGCCCGCCT	0.736													G|||	1	0.000199681	0.0	0.0	5008	,	,		11714	0.001		0.0	False		,,,				2504	0.0					ENST00000219551.2																			0				endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9						c.(1090-1092)ccG>ccA		rhomboid, veinlet-like 1 (Drosophila)							8.0	10.0	9.0					16																	727827		2127	4151	6278	SO:0001819	synonymous_variant	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:727827G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.1092G>A	16.37:g.727827G>A						RHBDL1_ENST00000352681.3_Silent_p.P299P	p.P364P			O75783	RHBL1_HUMAN			7	1119	+		Hepatocellular(780;0.0218)	364					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	37	c.1092G>A	CCDS10418.1																																																																																				0.736	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		3	6	0	0	0	1	0	3	6				
CCDC102A	92922	broad.mit.edu	37	16	57550268	57550268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57550268C>A	ENST00000258214.2	-	7	1602	c.1356G>T	c.(1354-1356)gaG>gaT	p.E452D		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	452										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCTTCTTCACCTCAGCCTCGT	0.627																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1354-1356)gaG>gaT		coiled-coil domain containing 102A							56.0	42.0	47.0					16																	57550268		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57550268C>A	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1356G>T	16.37:g.57550268C>A	ENSP00000258214:p.Glu452Asp						p.E452D	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			7	1602	-			452					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1356G>T	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	c	16.72	3.200518	0.58126	.	.	ENSG00000135736	ENST00000258214	T	0.80393	-1.37	4.13	2.13	0.27403	.	0.000000	0.85682	U	0.000000	D	0.85737	0.5766	M	0.69358	2.11	0.47994	D	0.999562	D	0.89917	1.0	D	0.83275	0.996	D	0.83656	0.0158	10	0.72032	D	0.01	-23.2102	7.3886	0.26897	0.0:0.7228:0.0:0.2772	.	452	Q96A19	C102A_HUMAN	D	452	ENSP00000258214:E452D	ENSP00000258214:E452D	E	-	3	2	CCDC102A	56107769	1.000000	0.71417	0.987000	0.45799	0.772000	0.43724	1.130000	0.31393	0.390000	0.25115	0.466000	0.42574	GAG		0.627	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		18	20	1	0	5.03518e-11	1	6.25324e-11	18	20				
BSN	8927	broad.mit.edu	37	3	49689793	49689793	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689793A>C	ENST00000296452.4	+	5	2918	c.2804A>C	c.(2803-2805)gAg>gCg	p.E935A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	935					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGACCATTGAGCTCAACAGC	0.622																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2803-2805)gAg>gCg		bassoon presynaptic cytomatrix protein							61.0	62.0	62.0					3																	49689793		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689793A>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2804A>C	3.37:g.49689793A>C	ENSP00000296452:p.Glu935Ala						p.E935A	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2918	+			935					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2804A>C	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748863	0.49257	.	.	ENSG00000164061	ENST00000296452	T	0.33216	1.42	4.81	4.81	0.61882	.	0.114239	0.56097	D	0.000021	T	0.40719	0.1128	M	0.64404	1.975	0.41786	D	0.989847	P	0.52316	0.952	P	0.49477	0.612	T	0.36456	-0.9747	10	0.48119	T	0.1	.	14.0201	0.64547	1.0:0.0:0.0:0.0	.	935	Q9UPA5	BSN_HUMAN	A	935	ENSP00000296452:E935A	ENSP00000296452:E935A	E	+	2	0	BSN	49664797	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	9.302000	0.96175	1.790000	0.52503	0.459000	0.35465	GAG		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		16	35	0	0	0	1	0	16	35				
TMED5	50999	broad.mit.edu	37	1	93646192	93646192	+	5'UTR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93646192G>A	ENST00000370282.3	-	0	93				CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Silent_p.R35R|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|TMED5_ENST00000479918.1_5'Flank|TMED5_ENST00000370280.1_5'Flank|CCDC18_ENST00000343253.7_Intron	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5						Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		ACGATCCCCGGCAAGCCCCGC	0.711																																						ENST00000557479.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(103-105)cgG>cgA		coiled-coil domain containing 18							14.0	16.0	15.0					1																	93646192		1786	4017	5803	SO:0001623	5_prime_UTR_variant	343099							g.chr1:93646192G>A	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.-393C>T	1.37:g.93646192G>A						TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR	p.R35R	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	273	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	0					B1AKT4|B2R703|D3DT38|Q96AX8	Silent	SNP	ENST00000370282.3	37	c.105G>A	CCDS743.1																																																																																				0.711	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		14	6	0	0	0	1	0	14	6				
PTTG1	9232	broad.mit.edu	37	5	159849771	159849771	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159849771G>C	ENST00000393964.1	+	2	550	c.147G>C	c.(145-147)acG>acC	p.T49T	PTTG1_ENST00000352433.5_Silent_p.T49T|PTTG1_ENST00000520452.1_Silent_p.T49T|PTTG1_ENST00000519287.1_3'UTR	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	49					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TTGGCAAAACGTTCGATGCCC	0.433																																						ENST00000393964.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(145-147)acG>acC		pituitary tumor-transforming 1							87.0	88.0	88.0					5																	159849771		2203	4300	6503	SO:0001819	synonymous_variant	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159849771G>C	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.147G>C	5.37:g.159849771G>C						PTTG1_ENST00000520452.1_Silent_p.T49T|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.T49T	p.T49T			O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	2	550	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	49						Silent	SNP	ENST00000393964.1	37	c.147G>C	CCDS4353.1																																																																																				0.433	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		44	51	0	0	0	1	0	44	51				
TP53INP1	94241	broad.mit.edu	37	8	95953126	95953126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95953126G>A	ENST00000342697.4	-	2	451	c.44C>T	c.(43-45)tCt>tTt	p.S15F	TP53INP1_ENST00000378776.4_Missense_Mutation_p.S15F|TP53INP1_ENST00000448464.2_Missense_Mutation_p.S15F|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	15	Poly-Ser.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GTTGGAGGAAGAACTGACTTC	0.393																																						ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(43-45)tCt>tTt		tumor protein p53 inducible nuclear protein 1							178.0	157.0	164.0					8																	95953126		2203	4300	6503	SO:0001583	missense	0				apoptosis	PML body		g.chr8:95953126G>A	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.44C>T	8.37:g.95953126G>A	ENSP00000344215:p.Ser15Phe					NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.S15F|TP53INP1_ENST00000378776.4_Missense_Mutation_p.S15F	p.S15F	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			2	451	-	Breast(36;8.75e-07)		15			Poly-Ser.		B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.44C>T	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029911	0.35797	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.46819	0.86;0.86;0.86	5.88	2.87	0.33458	.	0.896243	0.09994	N	0.729283	T	0.29850	0.0746	L	0.39898	1.24	0.09310	N	1	P;B	0.37636	0.603;0.374	B;B	0.26969	0.075;0.075	T	0.35968	-0.9767	10	0.62326	D	0.03	-8.056	1.4425	0.02357	0.1725:0.1218:0.3886:0.3172	.	15;15	Q96A56-2;Q96A56	.;T53I1_HUMAN	F	15	ENSP00000390063:S15F;ENSP00000344215:S15F;ENSP00000368052:S15F	ENSP00000344215:S15F	S	-	2	0	TP53INP1	96022302	0.733000	0.28132	0.666000	0.29783	0.942000	0.58702	1.334000	0.33827	0.839000	0.34971	0.561000	0.74099	TCT		0.393	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			4	86	0	0	0	1	0	4	86				
FBN2	2201	broad.mit.edu	37	5	127702084	127702084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127702084G>A	ENST00000508053.1	-	23	3262	c.2288C>T	c.(2287-2289)aCt>aTt	p.T763I	FBN2_ENST00000262464.4_Missense_Mutation_p.T763I|FBN2_ENST00000508989.1_Missense_Mutation_p.T730I|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	763					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCATCCACAGTGATACCTAC	0.299																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(2287-2289)aCt>aTt		fibrillin 2							58.0	57.0	57.0					5																	127702084		2203	4297	6500	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127702084G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2288C>T	5.37:g.127702084G>A	ENSP00000424571:p.Thr763Ile					FBN2_ENST00000508989.1_Missense_Mutation_p.T730I|FBN2_ENST00000262464.4_Missense_Mutation_p.T763I|FBN2_ENST00000511489.1_5'UTR	p.T763I			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	23	3262	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	763					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2288C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772758	0.49680	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.90620	-2.22;-2.22;-2.7	4.73	4.73	0.59995	Matrix fibril-associated (2);	0.086289	0.47852	D	0.000217	D	0.89234	0.6657	L	0.42686	1.345	0.54753	D	0.999982	P;P	0.50710	0.938;0.917	P;B	0.45195	0.473;0.348	D	0.90751	0.4657	10	0.66056	D	0.02	.	18.5844	0.91183	0.0:0.0:1.0:0.0	.	730;763	D6RJI3;P35556	.;FBN2_HUMAN	I	763;763;730	ENSP00000262464:T763I;ENSP00000424571:T763I;ENSP00000425596:T730I	ENSP00000262464:T763I	T	-	2	0	FBN2	127729983	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.801000	0.62532	2.569000	0.86673	0.585000	0.79938	ACT		0.299	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	19	0	0	0	1	0	11	19				
SUGP2	10147	broad.mit.edu	37	19	19121087	19121087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19121087G>A	ENST00000601879.1	-	5	2212	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W	SUGP2_ENST00000337018.6_Missense_Mutation_p.R639W|SUGP2_ENST00000452918.2_Missense_Mutation_p.R639W|SUGP2_ENST00000600377.1_Missense_Mutation_p.R653W|SUGP2_ENST00000456085.2_Missense_Mutation_p.R408W			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	639					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCGCTCATCCGCTGCATTTCT	0.478																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1915-1917)Cgg>Tgg		SURP and G patch domain containing 2							152.0	159.0	157.0					19																	19121087		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19121087G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1915C>T	19.37:g.19121087G>A	ENSP00000472286:p.Arg639Trp					SUGP2_ENST00000600377.1_Missense_Mutation_p.R653W|SUGP2_ENST00000452918.2_Missense_Mutation_p.R639W|SUGP2_ENST00000456085.2_Missense_Mutation_p.R408W|SUGP2_ENST00000337018.6_Missense_Mutation_p.R639W	p.R639W			Q8IX01	SUGP2_HUMAN			5	2212	-			639					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.1915C>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433545	0.62955	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.19250	2.32;2.32;2.32;2.16	5.49	3.14	0.36123	SWAP/Surp (1);	0.107759	0.39475	N	0.001346	T	0.33644	0.0870	L	0.32530	0.975	0.37830	D	0.928694	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.87578	0.998;0.998;0.719	T	0.34153	-0.9840	10	0.87932	D	0	-9.15	12.952	0.58407	0.0:0.0:0.5843:0.4157	.	408;639;639	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	W	639;639;639;408	ENSP00000337926:R639W;ENSP00000332373:R639W;ENSP00000389380:R639W;ENSP00000409603:R408W	ENSP00000332373:R639W	R	-	1	2	SUGP2	18982087	0.913000	0.31002	0.538000	0.28064	0.817000	0.46193	1.842000	0.39250	1.309000	0.44985	0.655000	0.94253	CGG		0.478	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		15	216	0	0	0	1	0	15	216				
DCAF4L1	285429	broad.mit.edu	37	4	41984211	41984211	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41984211G>A	ENST00000333141.5	+	1	499	c.402G>A	c.(400-402)tcG>tcA	p.S134S		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	134										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGGGCCTCGCTGAACCAGT	0.562																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(400-402)tcG>tcA		DDB1 and CUL4 associated factor 4-like 1							105.0	99.0	101.0					4																	41984211		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984211G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.402G>A	4.37:g.41984211G>A							p.S134S	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	499	+			134					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.402G>A	CCDS33978.1																																																																																				0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		25	66	0	0	0	1	0	25	66				
SBDS	51119	broad.mit.edu	37	7	66458363	66458363	+	Silent	SNP	T	T	C	rs113993994		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66458363T>C	ENST00000246868.2	-	3	483	c.300A>G	c.(298-300)agA>agG	p.R100R		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	100					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTGTGTGTGTCTTTCTTTAT	0.353			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(298-300)agA>agG		Shwachman-Bodian-Diamond syndrome							225.0	194.0	204.0					7																	66458363		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66458363T>C	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.300A>G	7.37:g.66458363T>C							p.R100R	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			3	483	-			100					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.300A>G	CCDS5537.1																																																																																				0.353	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		102	86	0	0	0	1	0	102	86				
CA5A	763	broad.mit.edu	37	16	87921757	87921757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921757G>A	ENST00000309893.2	-	7	961	c.896C>T	c.(895-897)aCt>aTt	p.T299I		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	299					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	GCCCTCATTAGTGGCCTGGAA	0.478																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(895-897)aCt>aTt		carbonic anhydrase VA, mitochondrial							92.0	80.0	84.0					16																	87921757		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87921757G>A	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.896C>T	16.37:g.87921757G>A	ENSP00000309649:p.Thr299Ile						p.T299I	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	7	961	-			299					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.896C>T	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	g	9.807	1.181988	0.21787	.	.	ENSG00000174990	ENST00000309893	T	0.68025	-0.3	4.03	-4.56	0.03431	.	5.034790	0.01147	U	0.006331	T	0.44973	0.1319	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14448	-1.0472	10	0.38643	T	0.18	2.8185	0.7233	0.00944	0.2756:0.1261:0.3428:0.2555	.	299	P35218	CAH5A_HUMAN	I	299	ENSP00000309649:T299I	ENSP00000309649:T299I	T	-	2	0	CA5A	86479258	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.096000	0.15147	-0.530000	0.06349	0.313000	0.20887	ACT		0.478	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		4	64	0	0	0	1	0	4	64				
ALG13	79868	broad.mit.edu	37	X	110925385	110925385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110925385G>A	ENST00000394780.3	+	2	119	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	ALG13_ENST00000371979.3_Missense_Mutation_p.R36Q|ALG13_ENST00000251943.4_5'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	36	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GGTTACAACCGACTTATCCTG	0.438																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(106-108)cGa>cAa		ALG13, UDP-N-acetylglucosaminyltransferase subunit							151.0	133.0	139.0					X																	110925385		2203	4300	6503	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110925385G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.107G>A	X.37:g.110925385G>A	ENSP00000378260:p.Arg36Gln					ALG13_ENST00000371979.3_Missense_Mutation_p.R36Q|ALG13_ENST00000251943.4_5'UTR	p.R36Q	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			2	119	+			36					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.107G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.970065	0.34754	.	.	ENSG00000101901	ENST00000371979;ENST00000486353;ENST00000394780	T;T;T	0.73789	-0.78;-0.78;-0.78	6.03	2.83	0.33086	Glycosyl transferase, family 28, C-terminal (1);	.	.	.	.	T	0.56630	0.1998	N	0.21545	0.675	0.19945	N	0.999947	B;B	0.29115	0.233;0.005	B;B	0.15484	0.013;0.009	T	0.40961	-0.9535	9	0.34782	T	0.22	.	9.0691	0.36482	0.379:0.0:0.621:0.0	.	36;36	Q9NP73;Q9NP73-2	ALG13_HUMAN;.	Q	36	ENSP00000361047:R36Q;ENSP00000426892:R36Q;ENSP00000378260:R36Q	ENSP00000361047:R36Q	R	+	2	0	ALG13	110812041	0.019000	0.18553	0.053000	0.19242	0.011000	0.07611	0.833000	0.27504	0.644000	0.30656	0.600000	0.82982	CGA		0.438	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		62	114	0	0	0	1	0	62	114				
ABCC10	89845	broad.mit.edu	37	6	43400775	43400775	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400775C>A	ENST00000372530.4	+	3	1272	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.L310I	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	353	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TAAGGTAACACTTCAGGCACG	0.592																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(928-930)Ctt>Att		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							59.0	58.0	58.0					6																	43400775		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400775C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1057C>A	6.37:g.43400775C>A	ENSP00000361608:p.Leu353Ile					ABCC10_ENST00000372530.4_Missense_Mutation_p.L353I|ABCC10_ENST00000443426.2_Intron	p.L310I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	1287	+	all_lung(25;0.00536)		353			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.928C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237519	0.39498	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.89050	-2.46;-2.46	5.2	4.13	0.48395	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.352176	0.26023	N	0.026814	D	0.88426	0.6433	L	0.35854	1.095	0.47547	D	0.999454	P;D	0.89917	0.851;1.0	P;D	0.87578	0.45;0.998	D	0.85805	0.1376	10	0.25106	T	0.35	-9.0154	14.6369	0.68696	0.0:0.9173:0.0:0.0827	.	310;353	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	I	353;310	ENSP00000361608:L353I;ENSP00000244533:L310I	ENSP00000244533:L310I	L	+	1	0	ABCC10	43508753	0.985000	0.35326	0.991000	0.47740	0.111000	0.19643	2.673000	0.46858	2.445000	0.82738	0.561000	0.74099	CTT		0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		20	45	1	0	1.87028e-06	1	2.164e-06	20	45				
TRBV5-1	28614	broad.mit.edu	37	7	142021229	142021229	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142021229G>A	ENST00000390381.3	+	0	518									T cell receptor beta variable 5-1																		GAATACTTCAGTGAGACACAG	0.522																																						ENST00000390381.3																			0																				46.0	45.0	45.0					7																	142021229		1864	4104	5968			0							g.chr7:142021229G>A	L36092		7q34	2012-02-07			ENSG00000211734	ENSG00000211734		"""T cell receptors / TRB locus"""	12218	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV51, TCRBV5S1, TCRBV5S1A1T			OTTHUMG00000158520		7.37:g.142021229G>A														0	518	+									RNA	SNP	ENST00000390381.3	37																																																																																						0.522	TRBV5-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351226.1	NG_001333		29	15	0	0	0	1	0	29	15				
TBC1D10A	83874	broad.mit.edu	37	22	30688802	30688802	+	Silent	SNP	G	G	A	rs376106240		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30688802G>A	ENST00000215790.7	-	9	1253	c.1089C>T	c.(1087-1089)cgC>cgT	p.R363R	TBC1D10A_ENST00000403362.1_Silent_p.R275R|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.R370R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGAGGTGTTCGCGCTCAATCT	0.637																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1087-1089)cgC>cgT		TBC1 domain family, member 10A		G	,	0,4406		0,0,2203	33.0	32.0	32.0		1110,1089	-9.7	0.2	22		32	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TBC1D10A	NM_001204240.1,NM_031937.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	370/516,363/509	30688802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688802G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1089C>T	22.37:g.30688802G>A						TBC1D10A_ENST00000403362.1_Silent_p.R275R|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.R370R	p.R363R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1253	-			363					B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.1089C>T	CCDS13874.1																																																																																				0.637	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		15	16	0	0	0	1	0	15	16				
FAM171A1	221061	broad.mit.edu	37	10	15256494	15256494	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256494G>T	ENST00000378116.4	-	8	1099	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	365						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CGTGAAAACAGCAAGTTAATG	0.587																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1093-1095)Ctg>Atg		family with sequence similarity 171, member A1							67.0	68.0	68.0					10																	15256494		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15256494G>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1093C>A	10.37:g.15256494G>T	ENSP00000367356:p.Leu365Met					FAM171A1_ENST00000477161.1_5'UTR	p.L365M	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1099	-			365					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.1093C>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432262	0.43122	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.35421	1.31	4.96	4.06	0.47325	.	0.065791	0.56097	D	0.000037	T	0.38746	0.1052	L	0.36672	1.1	0.31185	N	0.701572	P	0.51147	0.942	P	0.55455	0.776	T	0.45101	-0.9284	10	0.72032	D	0.01	-21.6205	6.5103	0.22218	0.0905:0.0:0.6839:0.2255	.	365	Q5VUB5	F1711_HUMAN	M	365;366	ENSP00000367356:L365M	ENSP00000367356:L365M	L	-	1	2	FAM171A1	15296500	.	.	1.000000	0.80357	0.694000	0.40290	.	.	1.310000	0.45006	0.563000	0.77884	CTG		0.587	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		15	25	1	0	6.72482e-11	1	8.32712e-11	15	25				
SIGLEC11	114132	broad.mit.edu	37	19	50463907	50463907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463907G>A	ENST00000447370.2	-	2	452	c.362C>T	c.(361-363)gCg>gTg	p.A121V	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121V|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCTCTGCGCGTCTCTGAT	0.537																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(361-363)gCg>gTg		sialic acid binding Ig-like lectin 11							21.0	32.0	28.0					19																	50463907		2070	4291	6361	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50463907G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.362C>T	19.37:g.50463907G>A	ENSP00000412361:p.Ala121Val					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121V	p.A121V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	2	452	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	121			Ig-like V-type.			Missense_Mutation	SNP	ENST00000447370.2	37	c.362C>T	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.700|9.700	1.154285|1.154285	0.21371|0.21371	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.62105|.	0.05|.	3.28|3.28	-0.382|-0.382	0.12481|0.12481	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	0.745519|.	0.12354|.	N|.	0.476308|.	T|T	0.39279|0.39279	0.1072|0.1072	L|L	0.52823|0.52823	1.66|1.66	0.09310|0.09310	N|N	1|1	B;D|.	0.67145|.	0.011;0.996|.	B;B|.	0.43680|.	0.018;0.427|.	T|T	0.35226|0.35226	-0.9797|-0.9797	10|5	0.11485|.	T|.	0.65|.	.|.	6.4194|6.4194	0.21736|0.21736	0.366:0.0:0.634:0.0|0.366:0.0:0.634:0.0	.|.	121;121|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	V|C	121|111	ENSP00000412361:A121V|.	ENSP00000412361:A121V|.	A|R	-|-	2|1	0|0	SIGLEC11|SIGLEC11	55155719|55155719	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.101000|1.101000	0.31037|0.31037	-0.090000|-0.090000	0.12462|0.12462	-1.075000|-1.075000	0.02238|0.02238	GCG|CGC		0.537	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		15	22	0	0	0	1	0	15	22				
CHPF2	54480	broad.mit.edu	37	7	150932416	150932416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150932416G>T	ENST00000035307.2	+	2	2059	c.546G>T	c.(544-546)caG>caT	p.Q182H	CHPF2_ENST00000495645.1_Missense_Mutation_p.Q174H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	182					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCATCATGCAGGATGACACAT	0.602																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(544-546)caG>caT		chondroitin polymerizing factor 2							95.0	96.0	96.0					7																	150932416		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150932416G>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.546G>T	7.37:g.150932416G>T	ENSP00000035307:p.Gln182His					CHPF2_ENST00000495645.1_Missense_Mutation_p.Q174H	p.Q182H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			2	2059	+			182					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.546G>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212919	0.58452	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.26518	1.73;1.74	5.43	3.64	0.41730	.	0.055915	0.85682	D	0.000000	T	0.37839	0.1018	L	0.55481	1.735	0.58432	D	0.99999	D;D	0.69078	0.982;0.997	P;D	0.64237	0.798;0.923	T	0.07195	-1.0785	9	.	.	.	-28.0756	6.9704	0.24646	0.1522:0.1419:0.7059:0.0	.	182;174	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	H	174;182;182	ENSP00000418914:Q174H;ENSP00000035307:Q182H	.	Q	+	3	2	CHPF2	150563349	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.448000	0.52943	0.675000	0.31264	-0.216000	0.12614	CAG		0.602	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		7	132	1	0	0.307466	1	0.308846	7	132				
SORCS2	57537	broad.mit.edu	37	4	7714488	7714488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7714488G>A	ENST00000507866.2	+	15	2006	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	SORCS2_ENST00000329016.9_Missense_Mutation_p.D461N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	633					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTCCGCTCCGATTGGGAGCT	0.592																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1897-1899)Gat>Aat		sortilin-related VPS10 domain containing receptor 2							54.0	60.0	58.0					4																	7714488		2030	4201	6231	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7714488G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1897G>A	4.37:g.7714488G>A	ENSP00000422185:p.Asp633Asn					SORCS2_ENST00000329016.9_Missense_Mutation_p.D461N	p.D633N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			15	2006	+			633					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1897G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333922	0.60853	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.28895	1.59;1.59	3.91	3.07	0.35406	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.74881	2.28	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.52358	-0.8586	10	0.56958	D	0.05	.	10.3973	0.44209	0.0998:0.0:0.9002:0.0	.	461;633	B5MED8;Q96PQ0	.;SORC2_HUMAN	N	633;461	ENSP00000422185:D633N;ENSP00000329124:D461N	ENSP00000329124:D461N	D	+	1	0	SORCS2	7765388	1.000000	0.71417	0.901000	0.35422	0.354000	0.29330	7.660000	0.83776	0.842000	0.35045	-0.251000	0.11542	GAT		0.592	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	37	0	0	0	1	0	7	37				
ARHGAP20	57569	broad.mit.edu	37	11	110462832	110462832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110462832C>T	ENST00000260283.4	-	11	1296	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A312T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000529591.1_5'Flank|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A312T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A315T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	338					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CGCCAGAAGGCCCAGTTTATG	0.403																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(1012-1014)Gcc>Acc		Rho GTPase activating protein 20							175.0	168.0	170.0					11																	110462832		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110462832C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1012G>A	11.37:g.110462832C>T	ENSP00000260283:p.Ala338Thr					ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A312T|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A315T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A312T	p.A338T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	11	1296	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	338					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.1012G>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.319234	0.23994	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.98	4.08	0.47627	.	0.241630	0.48767	N	0.000180	T	0.51550	0.1681	L	0.34521	1.04	0.33223	D	0.554911	B;B	0.32507	0.256;0.373	B;B	0.31614	0.063;0.133	T	0.59600	-0.7424	10	0.40728	T	0.16	.	7.9077	0.29771	0.0:0.7288:0.1336:0.1376	.	338;315	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	T	338;312;315;302;312;302	ENSP00000260283:A338T;ENSP00000349660:A312T;ENSP00000432076:A315T;ENSP00000436319:A302T;ENSP00000436522:A312T;ENSP00000431399:A302T	ENSP00000260283:A338T	A	-	1	0	ARHGAP20	109968042	1.000000	0.71417	0.996000	0.52242	0.068000	0.16541	3.075000	0.50073	0.830000	0.34757	0.650000	0.86243	GCC		0.403	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		30	90	0	0	0	1	0	30	90				
PTX4	390667	broad.mit.edu	37	16	1537618	1537618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537618G>A	ENST00000447419.2	-	2	520	c.495C>T	c.(493-495)ggC>ggT	p.G165G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.G160G			Q96A99	PTX4_HUMAN	pentraxin 4, long	165						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGCCTGGCGCCCTGGCTGT	0.736																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(493-495)ggC>ggT		pentraxin 4, long							13.0	17.0	16.0					16																	1537618		2166	4224	6390	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1537618G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.495C>T	16.37:g.1537618G>A						PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.G160G	p.G165G			Q96A99	PTX4_HUMAN			2	520	-			165						Silent	SNP	ENST00000447419.2	37	c.495C>T																																																																																					0.736	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		6	18	0	0	0	1	0	6	18				
MMP16	4325	broad.mit.edu	37	8	89053797	89053797	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:89053797G>T	ENST00000286614.6	-	10	1997	c.1716C>A	c.(1714-1716)atC>atA	p.I572I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	572					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATAAGGCCAAGATGCAGGGAA	0.458																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1714-1716)atC>atA		matrix metallopeptidase 16 (membrane-inserted)							280.0	221.0	241.0					8																	89053797		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053797G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1716C>A	8.37:g.89053797G>T							p.I572I	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			10	1997	-			572					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.1716C>A	CCDS6246.1																																																																																				0.458	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		8	95	1	0	0.000157383	1	0.00017284	8	95				
SUV39H1	6839	broad.mit.edu	37	X	48557420	48557420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48557420C>T	ENST00000376687.3	+	2	337	c.147C>T	c.(145-147)tgC>tgT	p.C49C	SUV39H1_ENST00000337852.6_Silent_p.C60C|SUV39H1_ENST00000453214.2_5'UTR|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	49	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with SIRT1.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTACCTGTGCGATTACAAGA	0.572																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(145-147)tgC>tgT		suppressor of variegation 3-9 homolog 1 (Drosophila)							79.0	64.0	69.0					X																	48557420		2203	4300	6503	SO:0001819	synonymous_variant	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48557420C>T	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.147C>T	X.37:g.48557420C>T						SUV39H1_ENST00000453214.2_5'UTR|SUV39H1_ENST00000337852.6_Silent_p.C60C|AF196970.3_ENST00000416061.1_RNA	p.C49C	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			2	337	+			49			Chromo.|Interaction with SIRT1.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	ENST00000376687.3	37	c.147C>T	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706961	0.30232	.	.	ENSG00000101945	ENST00000448548	.	.	.	3.75	-5.19	0.02832	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	13.7944	0.63162	0.0:0.7698:0.0:0.2302	.	.	.	.	X	49	.	ENSP00000410043:R49X	R	+	1	2	SUV39H1	48442364	0.033000	0.19621	0.975000	0.42487	0.948000	0.59901	-0.992000	0.03724	-1.046000	0.03246	-0.444000	0.05651	CGA		0.572	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		5	15	0	0	0	1	0	5	15				
MEGF10	84466	broad.mit.edu	37	5	126674846	126674846	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126674846C>A	ENST00000274473.6	+	4	418	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	MEGF10_ENST00000503335.2_Missense_Mutation_p.P51T|MEGF10_ENST00000418761.2_Missense_Mutation_p.P51T|MEGF10_ENST00000508365.1_Missense_Mutation_p.P51T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	51	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATACCCACATCCCTTTGATCA	0.358																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(151-153)Ccc>Acc		multiple EGF-like-domains 10							125.0	113.0	117.0					5																	126674846		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126674846C>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.151C>A	5.37:g.126674846C>A	ENSP00000274473:p.Pro51Thr					MEGF10_ENST00000418761.2_Missense_Mutation_p.P51T|MEGF10_ENST00000503335.2_Missense_Mutation_p.P51T|MEGF10_ENST00000508365.1_Missense_Mutation_p.P51T	p.P51T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	4	418	+		Prostate(80;0.165)	51			EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.151C>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847388	0.91277	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	D;D;D;D	0.84516	-1.59;-1.86;-1.86;-1.59	5.69	5.69	0.88448	EMI domain (1);	0.000000	0.64402	D	0.000001	D	0.91543	0.7329	M	0.67397	2.05	0.80722	D	1	P;D	0.89917	0.845;1.0	P;D	0.97110	0.756;1.0	D	0.89910	0.4051	10	0.36615	T	0.2	-16.7006	18.5816	0.91172	0.0:1.0:0.0:0.0	.	51;51	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	T	51	ENSP00000423354:P51T;ENSP00000423195:P51T;ENSP00000416284:P51T;ENSP00000274473:P51T	ENSP00000274473:P51T	P	+	1	0	MEGF10	126702745	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.989000	0.56958	2.696000	0.92011	0.655000	0.94253	CCC		0.358	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		11	93	1	0	2.68362e-12	1	3.37045e-12	11	93				
LPA	4018	broad.mit.edu	37	6	161010738	161010738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161010738G>A	ENST00000316300.5	-	24	3838	c.3794C>T	c.(3793-3795)aCg>aTg	p.T1265M	LPA_ENST00000447678.1_Missense_Mutation_p.T1265M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3773	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTTGCTCCGTTGGTGCTGA	0.448																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3793-3795)aCg>aTg		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						106.0	110.0	109.0					6																	161010738		2162	4290	6452	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161010738G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3794C>T	6.37:g.161010738G>A	ENSP00000321334:p.Thr1265Met					LPA_ENST00000316300.5_Missense_Mutation_p.T1265M	p.T1265M	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	25	3914	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3773			Kringle 11.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3794C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.450908	0.01080	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62639	0.01;0.01	2.74	1.82	0.25136	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.46580	0.1400	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	D	0.71184	0.972	T	0.35001	-0.9806	9	0.33940	T	0.23	.	7.3705	0.26798	0.2611:0.0:0.7389:0.0	.	3773	P08519	APOA_HUMAN	M	1265	ENSP00000321334:T1265M;ENSP00000395608:T1265M	ENSP00000321334:T1265M	T	-	2	0	LPA	160930728	0.036000	0.19791	0.004000	0.12327	0.014000	0.08584	1.661000	0.37408	0.064000	0.16427	-1.401000	0.01141	ACG		0.448	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		25	23	0	0	0	1	0	25	23				
ADCY3	109	broad.mit.edu	37	2	25050827	25050827	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25050827G>T	ENST00000260600.5	-	13	3227	c.2376C>A	c.(2374-2376)ctC>ctA	p.L792L	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Silent_p.L379L|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	792					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCAGGCATAGAGGTTGATGG	0.572											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2374-2376)ctC>ctA		adenylate cyclase 3							102.0	89.0	93.0					2																	25050827		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25050827G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2376C>A	2.37:g.25050827G>T			OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000405392.1_Silent_p.L379L|ADCY3_ENST00000450524.1_5'UTR	p.L792L	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			13	3227	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		792					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.2376C>A	CCDS1715.1																																																																																				0.572	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			16	27	1	0	3.45872e-05	1	3.88335e-05	16	27				
MLKL	197259	broad.mit.edu	37	16	74729471	74729471	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74729471A>G	ENST00000308807.7	-	2	648	c.185T>C	c.(184-186)aTg>aCg	p.M62T	MLKL_ENST00000306247.7_Missense_Mutation_p.M62T	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GAAGCGGTTCATGGCTGTGGT	0.552																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(184-186)aTg>aCg		mixed lineage kinase domain-like							101.0	98.0	99.0					16																	74729471		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74729471A>G	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.185T>C	16.37:g.74729471A>G	ENSP00000308351:p.Met62Thr					MLKL_ENST00000306247.7_Missense_Mutation_p.M62T	p.M62T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			2	648	-			62						Missense_Mutation	SNP	ENST00000308807.7	37	c.185T>C	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	A	7.011	0.556867	0.13436	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.78595	-1.19;2.68	4.42	3.32	0.38043	.	0.279524	0.30043	N	0.010559	T	0.61324	0.2338	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55673	-0.8104	10	0.87932	D	0	-5.537	7.3583	0.26731	0.8949:0.0:0.1051:0.0	.	62;62	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	T	62	ENSP00000308351:M62T;ENSP00000303118:M62T	ENSP00000303118:M62T	M	-	2	0	MLKL	73286972	0.161000	0.22892	0.007000	0.13788	0.002000	0.02628	1.259000	0.32956	0.801000	0.34066	-0.274000	0.10170	ATG		0.552	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		18	58	0	0	0	1	0	18	58				
FAM208B	54906	broad.mit.edu	37	10	5762885	5762885	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5762885G>A	ENST00000328090.5	+	6	723	c.98G>A	c.(97-99)tGt>tAt	p.C33Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	33																	CGTATGCTATGTGATATAGCT	0.333																																						ENST00000328090.5																			0											c.(97-99)tGt>tAt		family with sequence similarity 208, member B							109.0	95.0	100.0					10																	5762885		1854	4098	5952	SO:0001583	missense	54906							g.chr10:5762885G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.98G>A	10.37:g.5762885G>A	ENSP00000328426:p.Cys33Tyr					RP11-336A10.2_ENST00000411512.2_RNA	p.C33Y	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			6	723	+			33					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.98G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503899	0.44558	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.45276	0.9	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000005	T	0.61236	0.2331	M	0.63428	1.95	0.37557	D	0.918917	D	0.89917	1.0	D	0.80764	0.994	T	0.67122	-0.5750	10	0.72032	D	0.01	.	13.9704	0.64237	0.0:0.1515:0.8485:0.0	.	33	Q5VWN6	F208B_HUMAN	Y	33	ENSP00000328426:C33Y	ENSP00000328426:C33Y	C	+	2	0	C10orf18	5802891	1.000000	0.71417	0.999000	0.59377	0.231000	0.25187	3.563000	0.53784	2.631000	0.89168	0.655000	0.94253	TGT		0.333	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		10	68	0	0	0	1	0	10	68				
SRSF12	135295	broad.mit.edu	37	6	89808362	89808362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89808362C>T	ENST00000452027.2	-	5	914	c.721G>A	c.(721-723)Gca>Aca	p.A241T		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	241	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						GAATGCTTTGCTGTTTGTACT	0.393																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(721-723)Gca>Aca		serine/arginine-rich splicing factor 12							192.0	180.0	183.0					6																	89808362		1902	4114	6016	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89808362C>T	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.721G>A	6.37:g.89808362C>T	ENSP00000414302:p.Ala241Thr						p.A241T	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			5	914	-			241			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.721G>A	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773424	0.16051	.	.	ENSG00000154548	ENST00000452027	T	0.06687	3.27	4.57	1.8	0.24995	.	1.164360	0.06352	N	0.710036	T	0.00875	0.0029	N	0.02011	-0.69	0.26469	N	0.975319	B	0.06786	0.001	B	0.04013	0.001	T	0.46076	-0.9217	10	0.14252	T	0.57	.	7.8764	0.29597	0.0:0.7122:0.0:0.2878	.	241	Q8WXF0	SRS12_HUMAN	T	241	ENSP00000414302:A241T	ENSP00000414302:A241T	A	-	1	0	SRSF12	89865081	0.997000	0.39634	1.000000	0.80357	0.660000	0.38997	0.293000	0.19029	0.408000	0.25621	0.591000	0.81541	GCA		0.393	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		39	54	0	0	0	1	0	39	54				
MYO1C	4641	broad.mit.edu	37	17	1387545	1387545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1387545C>T	ENST00000575158.1	-	2	199	c.23G>A	c.(22-24)cGt>cAt	p.R8H	MYO1C_ENST00000438665.2_Missense_Mutation_p.R24H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R8H|MYO1C_ENST00000359786.5_Missense_Mutation_p.R43H|MYO1C_ENST00000545534.2_Missense_Mutation_p.R19H			Q12965	MYO1E_HUMAN	myosin IC	0					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCGGTCACGGGCGGTGAG	0.647																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(127-129)cGt>cAt		myosin IC							48.0	45.0	46.0					17																	1387545		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1387545C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.23G>A	17.37:g.1387545C>T	ENSP00000459174:p.Arg8His					MYO1C_ENST00000545534.2_Missense_Mutation_p.R19H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R8H|MYO1C_ENST00000438665.2_Missense_Mutation_p.R24H|MYO1C_ENST00000575158.1_Missense_Mutation_p.R8H	p.R43H	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	452	-			43			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.128G>A	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828599	0.90955	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;D;T	0.87809	-0.59;-0.59;-2.3;-0.59	4.54	4.54	0.55810	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.88450	2.955	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.95400	0.8489	10	0.87932	D	0	.	16.4672	0.84083	0.0:1.0:0.0:0.0	.	19;43;24	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	H	43;24;24;8;19;8	ENSP00000352834:R43H;ENSP00000412197:R24H;ENSP00000354283:R8H;ENSP00000437685:R19H	ENSP00000352834:R43H	R	-	2	0	MYO1C	1334295	1.000000	0.71417	0.997000	0.53966	0.741000	0.42261	5.563000	0.67352	2.353000	0.79882	0.561000	0.74099	CGT		0.647	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			8	20	0	0	0	1	0	8	20				
KIAA2013	90231	broad.mit.edu	37	1	11983089	11983089	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983089C>T	ENST00000376572.3	-	2	1676	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	KIAA2013_ENST00000376576.3_Silent_p.V497V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	497						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCGCCAGCACGGCCAGGT	0.612																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(1489-1491)gtG>gtA		KIAA2013							31.0	30.0	30.0					1																	11983089		2194	4286	6480	SO:0001819	synonymous_variant	90231					integral to membrane		g.chr1:11983089C>T	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1491G>A	1.37:g.11983089C>T						KIAA2013_ENST00000376576.3_Silent_p.V497V	p.V497V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1676	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	497					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	c.1491G>A	CCDS141.1																																																																																				0.612	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		8	24	0	0	0	1	0	8	24				
RANBP10	57610	broad.mit.edu	37	16	67805960	67805960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67805960C>T	ENST00000317506.3	-	3	492	c.377G>A	c.(376-378)gGc>gAc	p.G126D	RANBP10_ENST00000602677.1_Missense_Mutation_p.G126D|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Missense_Mutation_p.G126D|RANBP10_ENST00000411657.2_Missense_Mutation_p.G9D|RANBP10_ENST00000425512.2_Intron	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	126	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CATGTTGACGCCTTGAGCCGA	0.408																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(376-378)gGc>gAc		RAN binding protein 10							159.0	150.0	153.0					16																	67805960		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67805960C>T	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.377G>A	16.37:g.67805960C>T	ENSP00000316589:p.Gly126Asp					RANBP10_ENST00000425512.2_Intron|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000411657.2_Missense_Mutation_p.G9D|RANBP10_ENST00000602677.1_Missense_Mutation_p.G126D|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000448631.2_Missense_Mutation_p.G126D	p.G126D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	3	492	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	126			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.377G>A	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265594	0.80358	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000411657	T;T;T	0.58506	0.33;0.33;0.33	5.04	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.106561	0.64402	D	0.000004	T	0.61388	0.2343	N	0.19112	0.55	0.80722	D	1	B;B;D;B	0.89917	0.025;0.243;1.0;0.167	B;B;D;B	0.83275	0.034;0.133;0.996;0.199	T	0.56214	-0.8016	10	0.23891	T	0.37	-18.4688	15.7681	0.78143	0.0:1.0:0.0:0.0	.	126;9;126;126	B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;RBP10_HUMAN	D	126;126;9	ENSP00000316589:G126D;ENSP00000392808:G126D;ENSP00000416460:G9D	ENSP00000316589:G126D	G	-	2	0	RANBP10	66363461	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.426000	0.66476	2.791000	0.96007	0.655000	0.94253	GGC		0.408	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		13	116	0	0	0	1	0	13	116				
FH	2271	broad.mit.edu	37	1	241667422	241667422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241667422C>T	ENST00000366560.3	-	7	1066	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	343					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCCAAAAATCGAATATCATT	0.448			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1027-1029)cGa>cAa		fumarate hydratase							109.0	89.0	96.0					1																	241667422		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241667422C>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1028G>A	1.37:g.241667422C>T	ENSP00000355518:p.Arg343Gln						p.R343Q	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	7	1066	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	343					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1028G>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327055	0.95708	.	.	ENSG00000091483	ENST00000366560	D	0.99719	-6.52	5.73	5.73	0.89815	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96222	0.9161	10	0.87932	D	0	-21.8352	17.3941	0.87440	0.0:1.0:0.0:0.0	.	343	P07954	FUMH_HUMAN	Q	343	ENSP00000355518:R343Q	ENSP00000355518:R343Q	R	-	2	0	FH	239734045	1.000000	0.71417	0.974000	0.42286	0.865000	0.49528	7.293000	0.78740	2.709000	0.92574	0.655000	0.94253	CGA		0.448	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		15	28	0	0	0	1	0	15	28				
CNTFR	1271	broad.mit.edu	37	9	34564615	34564615	+	Missense_Mutation	SNP	C	C	T	rs185463299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34564615C>T	ENST00000378980.3	-	4	594	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	CNTFR_ENST00000351266.4_Missense_Mutation_p.V101I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	101	Ig-like C2-type.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGCAGCAGGACTTGGTGGCGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18950	0.001		0.0	False		,,,				2504	0.0					ENST00000378980.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15						c.(301-303)Gtc>Atc		ciliary neurotrophic factor receptor							82.0	72.0	76.0					9																	34564615		2202	4300	6502	SO:0001583	missense	1271				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	g.chr9:34564615C>T	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.301G>A	9.37:g.34564615C>T	ENSP00000368265:p.Val101Ile					CNTFR_ENST00000351266.4_Missense_Mutation_p.V101I	p.V101I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)	4	594	-	all_epithelial(49;0.0899)		101			Ig-like C2-type.		Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	c.301G>A	CCDS6558.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.97	1.797183	0.31777	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.80033	-1.33;-1.33;-1.33	5.26	4.37	0.52481	Immunoglobulin-like fold (1);	0.312987	0.28736	N	0.014320	T	0.63177	0.2489	N	0.25201	0.72	0.29350	N	0.865388	B	0.15141	0.012	B	0.09377	0.004	T	0.59440	-0.7454	9	0.09338	T	0.73	.	7.8281	0.29326	0.0:0.8141:0.0:0.1859	.	101	P26992	CNTFR_HUMAN	I	101	ENSP00000368265:V101I;ENSP00000242338:V101I;ENSP00000388082:V101I	ENSP00000242338:V101I	V	-	1	0	CNTFR	34554615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.628000	0.37060	1.215000	0.43411	0.467000	0.42956	GTC		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			7	6	0	0	0	1	0	7	6				
TSSC2	650368	broad.mit.edu	37	11	3427880	3427880	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3427880C>A	ENST00000529482.1	+	0	997									tumor suppressing subtransferable candidate 2 pseudogene																		GGGATAGCTTCACAGATCCAC	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427880C>A			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.3427880C>A														0	997	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			9	4	1	0	3.09899e-07	1	3.63227e-07	9	4				
LCMT1	51451	broad.mit.edu	37	16	25180518	25180518	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25180518A>C	ENST00000399069.3	+	8	931	c.776A>C	c.(775-777)aAg>aCg	p.K259T	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.K204T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	259					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGACCTGCAAGTCATTAGAG	0.493																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(775-777)aAg>aCg		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						96.0	96.0	96.0					16																	25180518		1943	4158	6101	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25180518A>C	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.776A>C	16.37:g.25180518A>C	ENSP00000382021:p.Lys259Thr					LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.K204T	p.K259T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	8	931	+			259					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.776A>C	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378279	0.42207	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.22539	1.95;1.95	6.17	5.08	0.68730	.	0.209202	0.50627	D	0.000104	T	0.13157	0.0319	N	0.16743	0.435	0.39080	D	0.960885	B;B	0.15141	0.012;0.002	B;B	0.18561	0.022;0.006	T	0.11494	-1.0585	10	0.27785	T	0.31	-36.1458	10.4816	0.44698	0.9241:0.0:0.0759:0.0	.	204;259	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	259;204;276	ENSP00000382021:K259T;ENSP00000370353:K204T	ENSP00000370349:K276T	K	+	2	0	LCMT1	25088019	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.247000	0.43151	1.151000	0.42436	0.533000	0.62120	AAG		0.493	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		10	107	0	0	0	1	0	10	107				
C9orf43	257169	broad.mit.edu	37	9	116191520	116191520	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116191520G>T	ENST00000288462.4	+	14	1686	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	C9orf43_ENST00000374165.1_Missense_Mutation_p.A414S	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	414										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGTGCCAGAAGCCCAGGCTGC	0.448																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(1240-1242)Gcc>Tcc		chromosome 9 open reading frame 43							134.0	134.0	134.0					9																	116191520		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116191520G>T	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1240G>T	9.37:g.116191520G>T	ENSP00000288462:p.Ala414Ser					C9orf43_ENST00000374165.1_Missense_Mutation_p.A414S	p.A414S	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			14	1686	+			414						Missense_Mutation	SNP	ENST00000288462.4	37	c.1240G>T	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197502	0.38806	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.42513	0.97;0.97	4.17	-1.42	0.08913	.	2.331520	0.01903	N	0.039310	T	0.23054	0.0557	N	0.12182	0.205	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.13176	-1.0519	10	0.46703	T	0.11	5.6364	1.0744	0.01629	0.1742:0.1384:0.3464:0.341	.	414	Q8TAL5	CI043_HUMAN	S	414	ENSP00000363280:A414S;ENSP00000288462:A414S	ENSP00000288462:A414S	A	+	1	0	C9orf43	115231341	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.062000	0.14389	-0.254000	0.09500	-0.282000	0.10007	GCC		0.448	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		15	125	1	0	6.72482e-11	1	8.32712e-11	15	125				
SCN1A	6323	broad.mit.edu	37	2	166848361	166848361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166848361G>T	ENST00000303395.4	-	26	5423	c.5424C>A	c.(5422-5424)ttC>ttA	p.F1808L	SCN1A_ENST00000375405.3_Missense_Mutation_p.F1797L|SCN1A_ENST00000423058.2_Missense_Mutation_p.F1808L|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1780L|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1808			F -> L (in ICEGTC; dbSNP:rs121918757). {ECO:0000269|PubMed:12566275}.|Missing (in EIEE6). {ECO:0000269|PubMed:12566275}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAACCTCATAGAACATCTCAA	0.458																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5422-5424)ttC>ttA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						118.0	118.0	118.0					2																	166848361		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848361G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5424C>A	2.37:g.166848361G>T	ENSP00000303540:p.Phe1808Leu					AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1780L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1797L|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1808L	p.F1808L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5441	-			1808		F -> L (in ICEGTC; dbSNP:rs121918757).|Missing (in SMEI).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5424C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167159	0.78339	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98012	-4.66;-4.66;-4.61;-4.56	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000002	D	0.98966	0.9648	M	0.94021	3.485	0.53005	D	0.999967	D	0.76494	0.999	D	0.87578	0.998	D	0.99312	1.0904	10	0.87932	D	0	.	13.2623	0.60113	0.072:0.0:0.9279:0.0	.	1797	P35498-2	.	L	1808;1808;1797;1780	ENSP00000407030:F1808L;ENSP00000303540:F1808L;ENSP00000364554:F1797L;ENSP00000386312:F1780L	ENSP00000303540:F1808L	F	-	3	2	SCN1A	166556607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.855000	0.55957	2.731000	0.93534	0.650000	0.86243	TTC		0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		46	65	1	0	1.19451e-25	1	1.58886e-25	46	65				
STK31	56164	broad.mit.edu	37	7	23768859	23768859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23768859G>T	ENST00000355870.3	+	6	593	c.474G>T	c.(472-474)caG>caT	p.Q158H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.Q158H|STK31_ENST00000428484.1_Missense_Mutation_p.Q135H|STK31_ENST00000354639.3_Missense_Mutation_p.Q135H	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	158						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGTTACCCAGTTTGATCAGG	0.318																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(403-405)caG>caT		serine/threonine kinase 31							64.0	68.0	67.0					7																	23768859		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23768859G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.474G>T	7.37:g.23768859G>T	ENSP00000348132:p.Gln158His					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.Q135H|STK31_ENST00000355870.3_Missense_Mutation_p.Q158H|STK31_ENST00000433467.2_Missense_Mutation_p.Q158H	p.Q135H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			6	869	+			158			Tudor.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.405G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	15.54	2.863824	0.51482	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T;T;T	0.32272	1.61;1.46;1.88;1.61;1.61;1.61	5.87	3.12	0.35913	.	0.318092	0.30901	N	0.008660	T	0.30417	0.0764	L	0.27053	0.805	0.26503	N	0.974747	D;D	0.67145	0.996;0.996	P;P	0.56700	0.804;0.804	T	0.08534	-1.0717	10	0.66056	D	0.02	-9.2228	5.9574	0.19281	0.2255:0.1379:0.6365:0.0	.	158;158	B4DZ06;Q9BXU1	.;STK31_HUMAN	H	158;114;135;158;135;135	ENSP00000348132:Q158H;ENSP00000414087:Q114H;ENSP00000389340:Q135H;ENSP00000411852:Q158H;ENSP00000346660:Q135H;ENSP00000406146:Q135H	ENSP00000346660:Q135H	Q	+	3	2	STK31	23735384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.510000	0.22723	0.396000	0.25283	0.591000	0.81541	CAG		0.318	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		5	68	1	0	5.9392e-07	1	6.91975e-07	5	68				
RAPGEF2	9693	broad.mit.edu	37	4	160252938	160252938	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160252938G>T	ENST00000264431.4	+	9	1668	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	417	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGACAGTGTAGATTCAGGTAG	0.413																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1249-1251)Gat>Tat		Rap guanine nucleotide exchange factor (GEF) 2							130.0	119.0	123.0					4																	160252938		1862	4104	5966	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160252938G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1249G>T	4.37:g.160252938G>T	ENSP00000264431:p.Asp417Tyr						p.D417Y	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	9	1668	+	all_hematologic(180;0.24)		417			PDZ.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.1249G>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.527273|4.527273	0.85706|0.85706	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000512056	T|.	0.27557|.	1.66|.	5.29|5.29	5.29|5.29	0.74685|0.74685	PDZ/DHR/GLGF (4);Ras guanine nucleotide exchange factor, domain (1);|.	0.050685|.	0.85682|.	D|.	0.000000|.	T|T	0.57095|0.57095	0.2030|0.2030	N|N	0.26092|0.26092	0.79|0.79	0.80722|0.80722	D|D	1|1	B|.	0.24721|.	0.11|.	B|.	0.35971|.	0.215|.	T|T	0.52109|0.52109	-0.8619|-0.8619	10|5	0.51188|.	T|.	0.08|.	.|.	18.9272|18.9272	0.92550|0.92550	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	417|.	Q9Y4G8|.	RPGF2_HUMAN|.	Y|I	417|54	ENSP00000264431:D417Y|.	ENSP00000264431:D417Y|.	D|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160472388|160472388	1.000000|1.000000	0.71417|0.71417	0.283000|0.283000	0.24790|0.24790	0.947000|0.947000	0.59692|0.59692	9.869000|9.869000	0.99810|0.99810	2.491000|2.491000	0.84063|0.84063	0.313000|0.313000	0.20887|0.20887	GAT|AGA		0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		17	124	1	0	6.49762e-13	1	8.19883e-13	17	124				
TCTN2	79867	broad.mit.edu	37	12	124171499	124171499	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171499T>C	ENST00000303372.5	+	6	809	c.681T>C	c.(679-681)ggT>ggC	p.G227G	TCTN2_ENST00000426174.2_Silent_p.G226G	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	227					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGACACGTGGTGTCCCCGATT	0.542																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(679-681)ggT>ggC		tectonic family member 2							327.0	282.0	297.0					12																	124171499		2203	4300	6503	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171499T>C	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.681T>C	12.37:g.124171499T>C						TCTN2_ENST00000426174.2_Silent_p.G226G	p.G227G	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	809	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		227					A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.681T>C	CCDS9253.1																																																																																				0.542	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		12	209	0	0	0	1	0	12	209				
WASF1	8936	broad.mit.edu	37	6	110423283	110423283	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110423283T>C	ENST00000392589.1	-	10	1866	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	WASF1_ENST00000392587.2_Missense_Mutation_p.M344V|WASF1_ENST00000392588.1_Missense_Mutation_p.M344V|WASF1_ENST00000359451.2_Missense_Mutation_p.M344V|WASF1_ENST00000392586.1_Missense_Mutation_p.M344V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	344					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTTGAAGTCATTGAAGCTCTT	0.562																																						ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1030-1032)Atg>Gtg		WAS protein family, member 1							128.0	123.0	125.0					6																	110423283		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423283T>C	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1030A>G	6.37:g.110423283T>C	ENSP00000376368:p.Met344Val					WASF1_ENST00000359451.2_Missense_Mutation_p.M344V|WASF1_ENST00000392586.1_Missense_Mutation_p.M344V|WASF1_ENST00000392587.2_Missense_Mutation_p.M344V|WASF1_ENST00000392588.1_Missense_Mutation_p.M344V	p.M344V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	1866	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	344					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1030A>G	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745243	0.15710	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.59	5.59	0.84812	.	0.574467	0.20318	N	0.094700	T	0.12860	0.0312	N	0.14661	0.345	0.34832	D	0.739769	B	0.06786	0.001	B	0.06405	0.002	T	0.07790	-1.0754	10	0.14252	T	0.57	.	15.8009	0.78453	0.0:0.0:0.0:1.0	.	344	Q92558	WASF1_HUMAN	V	344	ENSP00000376365:M344V;ENSP00000376366:M344V;ENSP00000376368:M344V;ENSP00000376367:M344V;ENSP00000352425:M344V	ENSP00000352425:M344V	M	-	1	0	WASF1	110529976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.958000	0.49145	2.137000	0.66172	0.440000	0.28878	ATG		0.562	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		40	57	0	0	0	1	0	40	57				
NACAP1	83955	broad.mit.edu	37	8	102381654	102381654	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102381654C>T	ENST00000419462.1	+	0	1066					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		GTCGATGAAACAGGTGTAGAA	0.418																																						ENST00000419462.1																			0																																																			0							g.chr8:102381654C>T	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381654C>T								NR_002182.1						0	1066	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.418	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		4	53	0	0	0	1	0	4	53				
ADAM19	8728	broad.mit.edu	37	5	156915368	156915368	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156915368G>T	ENST00000517905.1	-	21	2499	c.2455C>A	c.(2455-2457)Cca>Aca	p.P819T	ADAM19_ENST00000394020.1_Missense_Mutation_p.P821T|ADAM19_ENST00000430702.2_Missense_Mutation_p.P552T|ADAM19_ENST00000257527.4_Missense_Mutation_p.P819T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	819					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGGCCCTGGGGAGTTCCTA	0.647																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2455-2457)Cca>Aca		ADAM metallopeptidase domain 19							47.0	54.0	51.0					5																	156915368		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915368G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2455C>A	5.37:g.156915368G>T	ENSP00000428654:p.Pro819Thr					ADAM19_ENST00000430702.2_Missense_Mutation_p.P552T|ADAM19_ENST00000517905.1_Missense_Mutation_p.P819T|ADAM19_ENST00000394020.1_Missense_Mutation_p.P821T	p.P819T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2533	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	819					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2455C>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.247940	0.22880	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;T;T;T	0.01804	4.63;4.77;4.79;4.75	5.69	4.81	0.61882	.	0.179987	0.39985	N	0.001204	T	0.03348	0.0097	M	0.63843	1.955	0.21105	N	0.999782	P;P;P	0.39717	0.634;0.651;0.684	B;B;B	0.37780	0.23;0.214;0.258	T	0.25187	-1.0139	10	0.54805	T	0.06	.	14.0485	0.64719	0.0:0.3639:0.6361:0.0	.	819;819;552	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	T	552;819;821;819	ENSP00000414088:P552T;ENSP00000257527:P819T;ENSP00000377588:P821T;ENSP00000428654:P819T	ENSP00000257527:P819T	P	-	1	0	ADAM19	156847946	0.039000	0.19947	0.296000	0.24974	0.382000	0.30200	0.610000	0.24253	1.388000	0.46506	0.491000	0.48974	CCA		0.647	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		13	82	1	0	5.50884e-06	1	6.28354e-06	13	82				
ABCB1	5243	broad.mit.edu	37	7	87180053	87180053	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87180053C>A	ENST00000265724.3	-	11	1518	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	ABCB1_ENST00000543898.1_Missense_Mutation_p.K303N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	367					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TATCAATTATCTTGAAGATTT	0.368																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1099-1101)aaG>aaT		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						132.0	125.0	128.0					7																	87180053		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87180053C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1101G>T	7.37:g.87180053C>A	ENSP00000265724:p.Lys367Asn					ABCB1_ENST00000543898.1_Missense_Mutation_p.K303N	p.K367N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			11	1518	-	Esophageal squamous(14;0.00164)		367					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1101G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	8.239	0.806310	0.16467	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	T;T	0.42900	0.96;0.96	6.17	2.36	0.29203	ABC transporter, transmembrane domain, type 1 (1);	0.826496	0.11548	N	0.553083	T	0.25306	0.0615	L	0.31752	0.955	0.38524	D	0.948799	B;B	0.13145	0.007;0.002	B;B	0.04013	0.0;0.001	T	0.15607	-1.0431	10	0.25751	T	0.34	-5.8616	2.2766	0.04103	0.2482:0.2941:0.321:0.1367	.	303;367	B5AK60;P08183	.;MDR1_HUMAN	N	148;367;303	ENSP00000265724:K367N;ENSP00000444095:K303N	ENSP00000265724:K367N	K	-	3	2	ABCB1	87017989	0.000000	0.05858	0.999000	0.59377	0.982000	0.71751	-2.434000	0.01021	0.466000	0.27193	0.655000	0.94253	AAG		0.368	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		35	36	1	0	3.86903e-22	1	5.10393e-22	35	36				
FRS3	10817	broad.mit.edu	37	6	41738413	41738413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41738413G>A	ENST00000373018.3	-	7	1674	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	FRS3_ENST00000259748.2_Nonsense_Mutation_p.R475*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	475					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATCGTCTCGGGGCAGAGCT	0.632																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1423-1425)Cga>Tga		fibroblast growth factor receptor substrate 3							100.0	95.0	97.0					6																	41738413		2203	4300	6503	SO:0001587	stop_gained	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738413G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1423C>T	6.37:g.41738413G>A	ENSP00000362109:p.Arg475*					FRS3_ENST00000259748.2_Nonsense_Mutation_p.R475*	p.R475*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1674	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		475					Q5T3D5	Nonsense_Mutation	SNP	ENST00000373018.3	37	c.1423C>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.211324	0.97380	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	.	.	.	5.8	2.95	0.34219	.	0.053205	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2881	9.43	0.38604	0.0684:0.0:0.5422:0.3894	.	.	.	.	X	475	.	ENSP00000259748:R475X	R	-	1	2	FRS3	41846391	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	1.328000	0.33758	0.790000	0.33803	0.655000	0.94253	CGA		0.632	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		34	47	0	0	0	1	0	34	47				
ZSWIM1	90204	broad.mit.edu	37	20	44511609	44511609	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44511609C>T	ENST00000372523.1	+	2	473	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ZSWIM1_ENST00000372520.1_Silent_p.A126A	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	126						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAGGCCTGGCCCAGATGTTCC	0.532																																						ENST00000372523.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(376-378)gcC>gcT		zinc finger, SWIM-type containing 1							105.0	98.0	101.0					20																	44511609		2203	4300	6503	SO:0001819	synonymous_variant	90204						zinc ion binding	g.chr20:44511609C>T	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.378C>T	20.37:g.44511609C>T						ZSWIM1_ENST00000372520.1_Silent_p.A126A	p.A126A	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN			2	473	+		Myeloproliferative disorder(115;0.028)	126					Q5JZH2|Q9BR12|Q9BV30	Silent	SNP	ENST00000372523.1	37	c.378C>T	CCDS13382.2																																																																																				0.532	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		27	36	0	0	0	1	0	27	36				
B4GALNT2	124872	broad.mit.edu	37	17	47237959	47237959	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47237959C>T	ENST00000300404.2	+	7	961	c.902C>T	c.(901-903)aCc>aTc	p.T301I	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T241I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T215I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	301					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTCCAGTGACCATCCGCCAT	0.527																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(901-903)aCc>aTc		beta-1,4-N-acetyl-galactosaminyl transferase 2							229.0	204.0	213.0					17																	47237959		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47237959C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.902C>T	17.37:g.47237959C>T	ENSP00000300404:p.Thr301Ile					B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T241I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T215I	p.T301I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		7	961	+			301					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.902C>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698830	0.30142	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.24350	1.86;1.87;2.16	5.26	-0.848	0.10727	.	0.131674	0.48286	D	0.000185	T	0.14184	0.0343	L	0.38531	1.155	0.24182	N	0.995582	B;B	0.28636	0.218;0.055	B;B	0.24701	0.055;0.014	T	0.11012	-1.0605	10	0.37606	T	0.19	-11.6085	4.1378	0.10179	0.1126:0.5047:0.2377:0.145	.	241;301	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	I	215;241;301	ENSP00000425510:T215I;ENSP00000377022:T241I;ENSP00000300404:T301I	ENSP00000300404:T301I	T	+	2	0	B4GALNT2	44592958	0.014000	0.17966	0.947000	0.38551	0.933000	0.57130	-0.217000	0.09253	0.183000	0.20059	0.561000	0.74099	ACC		0.527	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		13	193	0	0	0	1	0	13	193				
OGT	8473	broad.mit.edu	37	X	70787571	70787571	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70787571C>A	ENST00000373719.3	+	20	3028	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L	OGT_ENST00000373701.3_Silent_p.L927L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	937					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGGATGTCCTCTGGGCAGGGA	0.517																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2809-2811)ctC>ctA		O-linked N-acetylglucosamine (GlcNAc) transferase							68.0	50.0	56.0					X																	70787571		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70787571C>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2811C>A	X.37:g.70787571C>A						OGT_ENST00000373701.3_Silent_p.L927L	p.L937L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			20	3028	+	Renal(35;0.156)		937					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.2811C>A	CCDS14414.1																																																																																				0.517	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		5	20	1	0	0.184627	1	0.186383	5	20				
MTRF1	9617	broad.mit.edu	37	13	41834982	41834982	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41834982C>T	ENST00000379480.4	-	2	162	c.62G>A	c.(61-63)tGt>tAt	p.C21Y	MTRF1_ENST00000379477.1_Missense_Mutation_p.C21Y|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.C34Y	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	21					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTGGATGTGACACTGGAGGTA	0.363																																						ENST00000379480.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14						c.(61-63)tGt>tAt		mitochondrial translational release factor 1							90.0	85.0	87.0					13																	41834982		2203	4300	6503	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41834982C>T	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.62G>A	13.37:g.41834982C>T	ENSP00000368793:p.Cys21Tyr					MTRF1_ENST00000430347.2_Missense_Mutation_p.C34Y|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.C21Y	p.C21Y	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	2	162	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	21					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.62G>A	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	C	3.867	-0.028662	0.07589	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000239852;ENST00000452359	T;T;T;T	0.25749	2.91;2.91;2.83;1.78	5.1	-0.159	0.13379	.	0.654064	0.14580	N	0.310907	T	0.13372	0.0324	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27434	-1.0074	10	0.24483	T	0.36	5.0848	5.7176	0.17968	0.1233:0.4383:0.0:0.4383	.	34;21	B4DG01;O75570	.;RF1M_HUMAN	Y	21;21;34;21;21	ENSP00000368793:C21Y;ENSP00000368790:C21Y;ENSP00000400031:C34Y;ENSP00000399279:C21Y	ENSP00000239852:C21Y	C	-	2	0	MTRF1	40732982	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.219000	0.09228	-0.270000	0.09285	-0.251000	0.11542	TGT		0.363	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		19	48	0	0	0	1	0	19	48				
ADPRHL1	113622	broad.mit.edu	37	13	114078566	114078566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114078566C>T	ENST00000375418.3	-	6	959	c.873G>A	c.(871-873)tgG>tgA	p.W291*	ADPRHL1_ENST00000356501.4_Nonsense_Mutation_p.W209*	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	291					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ACAGCTCAGTCCAGCTGTTTC	0.587																																						ENST00000356501.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(625-627)tgG>tgA		ADP-ribosylhydrolase like 1							136.0	109.0	118.0					13																	114078566		2201	4296	6497	SO:0001587	stop_gained	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114078566C>T	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.873G>A	13.37:g.114078566C>T	ENSP00000364567:p.Trp291*					ADPRHL1_ENST00000375418.3_Nonsense_Mutation_p.W291*	p.W209*	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		6	802	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	291					Q5JUG2|Q96GD1	Nonsense_Mutation	SNP	ENST00000375418.3	37	c.627G>A	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	c	19.83	3.900811	0.72754	.	.	ENSG00000153531	ENST00000356501;ENST00000375418	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5388	17.8685	0.88803	0.0:1.0:0.0:0.0	.	.	.	.	X	209;291	.	ENSP00000348894:W209X	W	-	3	0	ADPRHL1	113126567	1.000000	0.71417	0.580000	0.28601	0.243000	0.25628	6.905000	0.75714	2.211000	0.71520	0.543000	0.68304	TGG		0.587	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		9	20	0	0	0	1	0	9	20				
OTUD6A	139562	broad.mit.edu	37	X	69282892	69282892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69282892G>A	ENST00000338352.2	+	1	552	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	173	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTGCGCTGCCGCACCGCCAGC	0.602																																						ENST00000338352.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(517-519)cGc>cAc		OTU domain containing 6A							53.0	39.0	44.0					X																	69282892		2203	4300	6503	SO:0001583	missense	139562							g.chrX:69282892G>A	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.518G>A	X.37:g.69282892G>A	ENSP00000339389:p.Arg173His						p.R173H	NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN			1	552	+			173			OTU.		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.518G>A	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547691	0.45383	.	.	ENSG00000189401	ENST00000338352	T	0.40756	1.02	4.27	1.52	0.23074	Ovarian tumour, otubain (2);	0.564926	0.19458	N	0.113778	T	0.48429	0.1499	L	0.51422	1.61	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.28459	-1.0043	10	0.39692	T	0.17	.	3.0328	0.06112	0.3167:0.0:0.4897:0.1936	.	173	Q7L8S5	OTU6A_HUMAN	H	173	ENSP00000339389:R173H	ENSP00000339389:R173H	R	+	2	0	OTUD6A	69199617	0.143000	0.22626	0.001000	0.08648	0.000000	0.00434	1.245000	0.32790	0.189000	0.20188	-0.912000	0.02778	CGC		0.602	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		4	13	0	0	0	1	0	4	13				
LAP3	51056	broad.mit.edu	37	4	17609105	17609105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17609105G>A	ENST00000226299.4	+	13	1727	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V454M|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	485					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CATAGCAGGCGTGATGACCAA	0.448																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(1453-1455)Gtg>Atg		leucine aminopeptidase 3							140.0	125.0	130.0					4																	17609105		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17609105G>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1453G>A	4.37:g.17609105G>A	ENSP00000226299:p.Val485Met					LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V454M	p.V485M	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			13	1727	+			485					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.1453G>A	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300268	0.95574	.	.	ENSG00000002549	ENST00000226299	T	0.46819	0.86	5.87	5.87	0.94306	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62258	-0.6892	10	0.35671	T	0.21	-30.1751	20.206	0.98277	0.0:0.0:1.0:0.0	.	485	P28838	AMPL_HUMAN	M	485	ENSP00000226299:V485M	ENSP00000226299:V485M	V	+	1	0	LAP3	17218203	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.751000	0.85126	2.785000	0.95823	0.655000	0.94253	GTG		0.448	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			34	53	0	0	0	1	0	34	53				
KLHDC7A	127707	broad.mit.edu	37	1	18809726	18809726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18809726C>T	ENST00000400664.1	+	1	2303	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	751						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGAGCTGCGGAGTTTCCC	0.647																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2251-2253)Cgg>Tgg		kelch domain containing 7A							72.0	74.0	74.0					1																	18809726		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18809726C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2251C>T	1.37:g.18809726C>T	ENSP00000383505:p.Arg751Trp						p.R751W	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2303	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	751					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.2251C>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770683	0.31320	.	.	ENSG00000179023	ENST00000400664	T	0.20069	2.1	5.32	3.3	0.37823	.	0.949827	0.08795	N	0.892625	T	0.30324	0.0761	L	0.40543	1.245	0.09310	N	1	D	0.71674	0.998	P	0.53146	0.719	T	0.21930	-1.0231	10	0.87932	D	0	.	12.0907	0.53724	0.4318:0.5682:0.0:0.0	.	751	Q5VTJ3	KLD7A_HUMAN	W	751	ENSP00000383505:R751W	ENSP00000383505:R751W	R	+	1	2	KLHDC7A	18682313	0.027000	0.19231	0.023000	0.16930	0.271000	0.26615	1.694000	0.37752	1.191000	0.43056	0.655000	0.94253	CGG		0.647	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		29	45	0	0	0	1	0	29	45				
HHIP	64399	broad.mit.edu	37	4	145573764	145573764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145573764C>A	ENST00000296575.3	+	2	942	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	HHIP_ENST00000434550.2_Missense_Mutation_p.S96Y|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	96					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGATATTTTCTGTTACCAAC	0.343																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(286-288)tCt>tAt		hedgehog interacting protein							75.0	78.0	77.0					4																	145573764		2203	4299	6502	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145573764C>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.287C>A	4.37:g.145573764C>A	ENSP00000296575:p.Ser96Tyr					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.S96Y|HHIP_ENST00000511314.1_3'UTR	p.S96Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	2	942	+	all_hematologic(180;0.151)		96					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.287C>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847989	0.91277	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.76578	-1.03;-1.03	5.83	5.83	0.93111	Folate receptor-like (1);	0.098404	0.64402	D	0.000001	D	0.87091	0.6091	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.68621	0.959;0.929	D	0.87128	0.2195	10	0.72032	D	0.01	-18.3085	20.1338	0.98010	0.0:1.0:0.0:0.0	.	96;96	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	Y	96	ENSP00000296575:S96Y;ENSP00000408587:S96Y	ENSP00000296575:S96Y	S	+	2	0	HHIP	145793214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	TCT		0.343	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			15	49	1	0	1.02788e-11	1	1.28409e-11	15	49				
NUP210	23225	broad.mit.edu	37	3	13378358	13378358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13378358C>T	ENST00000254508.5	-	27	3695	c.3613G>A	c.(3613-3615)Gtg>Atg	p.V1205M	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1205					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGGCCTGGCACGGCATTGCCA	0.617																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3613-3615)Gtg>Atg		nucleoporin 210kDa							127.0	108.0	114.0					3																	13378358		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13378358C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3613G>A	3.37:g.13378358C>T	ENSP00000254508:p.Val1205Met					NUP210_ENST00000485755.1_5'UTR	p.V1205M	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			27	3695	-	all_neural(104;0.187)		1205					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3613G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430115	0.25726	.	.	ENSG00000132182	ENST00000254508	T	0.05258	3.47	5.26	3.43	0.39272	.	0.233554	0.34879	N	0.003618	T	0.07728	0.0194	L	0.53249	1.67	0.45354	D	0.998348	P	0.48998	0.918	B	0.39503	0.301	T	0.24012	-1.0172	10	0.49607	T	0.09	-15.269	12.3913	0.55360	0.0:0.8546:0.0:0.1454	.	1205	Q8TEM1	PO210_HUMAN	M	1205	ENSP00000254508:V1205M	ENSP00000254508:V1205M	V	-	1	0	NUP210	13353358	0.452000	0.25713	0.977000	0.42913	0.379000	0.30106	0.895000	0.28363	1.348000	0.45733	0.591000	0.81541	GTG		0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		27	48	0	0	0	1	0	27	48				
ANK3	288	broad.mit.edu	37	10	61847910	61847910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61847910G>T	ENST00000280772.2	-	29	3726	c.3535C>A	c.(3535-3537)Ctc>Atc	p.L1179I	ANK3_ENST00000355288.2_Missense_Mutation_p.L313I|ANK3_ENST00000503366.1_Missense_Mutation_p.L1180I|ANK3_ENST00000373827.2_Missense_Mutation_p.L1173I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1179	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTACCTGGAGGCCCACTCGA	0.463																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3535-3537)Ctc>Atc		ankyrin 3, node of Ranvier (ankyrin G)							94.0	96.0	96.0					10																	61847910		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61847910G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3535C>A	10.37:g.61847910G>T	ENSP00000280772:p.Leu1179Ile					ANK3_ENST00000355288.2_Missense_Mutation_p.L313I|ANK3_ENST00000503366.1_Missense_Mutation_p.L1180I|ANK3_ENST00000373827.2_Missense_Mutation_p.L1173I	p.L1179I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3726	-			1179					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3535C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618403	0.87359	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.75367	-0.93;-0.82;-0.82;-0.82	6.17	6.17	0.99709	.	0.000000	0.37304	N	0.002152	D	0.88782	0.6530	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.993;0.998;0.999;1.0;0.997;0.964;0.997	D;D;D;D;D;D;D	0.87578	0.949;0.99;0.996;0.998;0.991;0.936;0.978	D	0.88804	0.3287	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1180;313;712;1173;1179;414;313	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	I	1179;1173;313;313;1180;1159;414;814;814;312;712	ENSP00000280772:L1179I;ENSP00000362933:L1173I;ENSP00000347436:L313I;ENSP00000425236:L1180I	ENSP00000280772:L1179I	L	-	1	0	ANK3	61517916	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.813000	0.62620	2.941000	0.99782	0.655000	0.94253	CTC		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	82	1	0	0.014758	1	0.0152625	4	82				
VPS52	6293	broad.mit.edu	37	6	33236905	33236905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33236905C>T	ENST00000445902.2	-	6	652	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R20Q|RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	145					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTGCAGTGTCCGGATCTCAGA	0.542																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(433-435)cGg>cAg		vacuolar protein sorting 52 homolog (S. cerevisiae)							197.0	197.0	197.0					6																	33236905		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236905C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.434G>A	6.37:g.33236905C>T	ENSP00000409952:p.Arg145Gln					VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R20Q|VPS52_ENST00000482399.1_3'UTR	p.R145Q	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			6	652	-			145					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.434G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549998	0.27652	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	5.0	0.66597	.	0.112351	0.64402	D	0.000006	T	0.07638	0.0192	N	0.01168	-0.975	0.38458	D	0.947132	B;B;B	0.16396	0.017;0.007;0.017	B;B;B	0.08055	0.003;0.003;0.003	T	0.25813	-1.0121	9	0.15066	T	0.55	-23.3352	9.5446	0.39273	0.0:0.9061:0.0:0.0939	.	123;20;145	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	Q	145;123;20	.	ENSP00000414785:R123Q	R	-	2	0	VPS52	33344883	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.835000	0.55805	2.776000	0.95493	0.573000	0.79308	CGG		0.542	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		74	102	0	0	0	1	0	74	102				
APPL1	26060	broad.mit.edu	37	3	57303661	57303661	+	Silent	SNP	G	G	A	rs146152896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303661G>A	ENST00000288266.3	+	22	2223	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	ASB14_ENST00000487349.1_Intron|ASB14_ENST00000389601.3_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	692					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCAGTAGCCAGTCAGAAGAGA	0.443																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(2074-2076)caG>caA		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	150.0	143.0	146.0		,2076,	3.0	1.0	3	dbSNP_134	146	0,8600		0,0,4300	no	intron,coding-synonymous,intron	APPL1,ASB14	NM_001142733.2,NM_012096.2,NM_130387.5	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,692/710,	57303661	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57303661G>A	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.2076G>A	3.37:g.57303661G>A						ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	p.Q692Q	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	22	2223	+			692					Q9P2B9	Silent	SNP	ENST00000288266.3	37	c.2076G>A	CCDS2882.1																																																																																				0.443	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		7	99	0	0	0	1	0	7	99				
ORC3	23595	broad.mit.edu	37	6	88331704	88331704	+	Silent	SNP	G	G	A	rs535822044	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88331704G>A	ENST00000392844.3	+	11	1206	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	ORC3_ENST00000546266.1_Silent_p.A243A|ORC3_ENST00000417380.2_Silent_p.A333A|ORC3_ENST00000257789.4_Silent_p.A386A	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	386					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGCAAGTTGCGCTCTTGACCA	0.313													g|||	3	0.000599042	0.0	0.0	5008	,	,		18926	0.0		0.0	False		,,,				2504	0.0031					ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(1156-1158)gcG>gcA		origin recognition complex, subunit 3							170.0	158.0	162.0					6																	88331704		2203	4300	6503	SO:0001819	synonymous_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88331704G>A	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1158G>A	6.37:g.88331704G>A						ORC3_ENST00000417380.2_Silent_p.A333A|ORC3_ENST00000546266.1_Silent_p.A243A|ORC3_ENST00000257789.4_Silent_p.A386A	p.A386A	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			11	1206	+			386					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	c.1158G>A	CCDS43486.1																																																																																				0.313	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			7	80	0	0	0	1	0	7	80				
EIF4A1	1973	broad.mit.edu	37	17	7480800	7480800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7480800C>T	ENST00000293831.8	+	7	779	c.763C>T	c.(763-765)Cga>Tga	p.R255*	SNORD10_ENST00000459579.1_RNA|SNORA48_ENST00000386847.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000577269.1_Nonsense_Mutation_p.R255*|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000582746.1_Nonsense_Mutation_p.R255*|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	255	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAACGTGGAACGAGAGGTGGG	0.552																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(763-765)Cga>Tga		eukaryotic translation initiation factor 4A1							60.0	53.0	55.0					17																	7480800		2203	4300	6503	SO:0001587	stop_gained	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480800C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.763C>T	17.37:g.7480800C>T	ENSP00000293831:p.Arg255*					EIF4A1_ENST00000577269.1_Nonsense_Mutation_p.R255*|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Nonsense_Mutation_p.R255*	p.R255*	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			7	779	+			255			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Nonsense_Mutation	SNP	ENST00000293831.8	37	c.763C>T	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753937	0.69648	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	.	.	.	5.16	3.09	0.35607	.	0.060757	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-28.1231	11.9709	0.53063	0.3153:0.6847:0.0:0.0	.	.	.	.	X	255;78	.	ENSP00000293831:R255X	R	+	1	2	EIF4A1	7421524	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.658000	0.37376	0.518000	0.28383	0.491000	0.48974	CGA		0.552	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		25	29	0	0	0	1	0	25	29				
LRFN5	145581	broad.mit.edu	37	14	42360875	42360875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360875G>A	ENST00000298119.4	+	4	2997	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	603						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCAGTGTTGTAAAGCTACC	0.488										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1807-1809)tGt>tAt		leucine rich repeat and fibronectin type III domain containing 5							138.0	112.0	121.0					14																	42360875		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360875G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1808G>A	14.37:g.42360875G>A	ENSP00000298119:p.Cys603Tyr	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.C603Y	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2997	+			603					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1808G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	8.892	0.954135	0.18431	.	.	ENSG00000165379	ENST00000298119	T	0.45668	0.89	5.95	2.67	0.31697	.	0.100658	0.44285	D	0.000466	T	0.17323	0.0416	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.02654	T	1	.	8.936	0.35700	0.0795:0.0:0.6534:0.267	.	603	Q96NI6	LRFN5_HUMAN	Y	603	ENSP00000298119:C603Y	ENSP00000298119:C603Y	C	+	2	0	LRFN5	41430625	0.994000	0.37717	0.998000	0.56505	0.805000	0.45488	1.261000	0.32980	0.837000	0.34925	0.650000	0.86243	TGT		0.488	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		12	32	0	0	0	1	0	12	32				
RFX2	5990	broad.mit.edu	37	19	6004263	6004263	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6004263G>A	ENST00000303657.5	-	13	1598	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	RFX2_ENST00000592546.1_Silent_p.G458G|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.G483G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTGTCAACCAGCCTTCCAAGC	0.577																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1447-1449)ggC>ggT		regulatory factor X, 2 (influences HLA class II expression)							193.0	165.0	175.0					19																	6004263		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6004263G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1449C>T	19.37:g.6004263G>A						RFX2_ENST00000359161.3_Silent_p.G483G|RFX2_ENST00000592546.1_Silent_p.G458G|CTC-232P5.1_ENST00000587836.1_RNA	p.G483G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			13	1598	-			483					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.1449C>T	CCDS12157.1																																																																																				0.577	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		50	58	0	0	0	1	0	50	58				
PHC1	1911	broad.mit.edu	37	12	9087028	9087028	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9087028A>G	ENST00000543824.1	+	11	2539	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	PHC1_ENST00000433083.2_Missense_Mutation_p.H691R|PHC1_ENST00000536844.1_Missense_Mutation_p.H342R|PHC1_ENST00000544916.1_Missense_Mutation_p.H736R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	736					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATTCTCACCCACATCATTGAA	0.542																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2071-2073)cAc>cGc		polyhomeotic homolog 1 (Drosophila)							59.0	58.0	59.0					12																	9087028		2203	4297	6500	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9087028A>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2207A>G	12.37:g.9087028A>G	ENSP00000440674:p.His736Arg					PHC1_ENST00000544916.1_Missense_Mutation_p.H736R|PHC1_ENST00000543824.1_Missense_Mutation_p.H736R|PHC1_ENST00000536844.1_Missense_Mutation_p.H342R	p.H691R			P78364	PHC1_HUMAN			9	2217	+			736					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2072A>G	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370367	0.61624	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	M	0.80508	2.5	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.78119	-0.2328	10	0.87932	D	0	-28.0429	16.1342	0.81471	1.0:0.0:0.0:0.0	.	736	P78364	PHC1_HUMAN	R	736;736;691;736;342	ENSP00000440674:H736R;ENSP00000251757:H736R;ENSP00000399194:H691R;ENSP00000437659:H736R;ENSP00000440488:H342R	ENSP00000251757:H736R	H	+	2	0	PHC1	8978295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.296000	0.77279	0.482000	0.46254	CAC		0.542	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		5	41	0	0	0	1	0	5	41				
ETS1	2113	broad.mit.edu	37	11	128426321	128426321	+	Missense_Mutation	SNP	G	G	A	rs568094885		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128426321G>A	ENST00000392668.4	-	3	163	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTGTTGCTAGGTCCTTGCCTC	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20727	0.0		0.001	False		,,,				2504	0.0					ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(79-81)Cct>Tct		v-ets avian erythroblastosis virus E26 oncogene homolog 1							101.0	88.0	92.0					11																	128426321		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426321G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.79C>T	11.37:g.128426321G>A	ENSP00000376436:p.Pro27Ser					ETS1_ENST00000525404.1_5'UTR	p.P27S	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	147	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	0					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.79C>T	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	G	8.814	0.936026	0.18206	.	.	ENSG00000134954	ENST00000392668	T	0.10763	2.84	5.89	4.97	0.65823	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.19575	N	0.999965	B	0.20052	0.041	B	0.17098	0.017	T	0.16660	-1.0395	8	0.62326	D	0.03	.	13.3761	0.60739	0.0:0.3014:0.6986:0.0	.	27	Q6N087	.	S	27	ENSP00000376436:P27S	ENSP00000376436:P27S	P	-	1	0	ETS1	127931531	0.034000	0.19679	0.227000	0.23927	0.859000	0.49053	1.456000	0.35201	1.473000	0.48159	0.563000	0.77884	CCT		0.393	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		23	19	0	0	0	1	0	23	19				
SLC13A5	284111	broad.mit.edu	37	17	6606399	6606399	+	Missense_Mutation	SNP	C	C	A	rs202163457		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6606399C>A	ENST00000433363.2	-	5	839	c.606G>T	c.(604-606)aaG>aaT	p.K202N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.K202N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K159N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K185N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	202					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TACACAACCTCTTCCGCTCTT	0.637																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(604-606)aaG>aaT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							151.0	122.0	132.0					17																	6606399		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6606399C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.606G>T	17.37:g.6606399C>A	ENSP00000406220:p.Lys202Asn					SLC13A5_ENST00000573648.1_Missense_Mutation_p.K202N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K185N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K159N	p.K202N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			5	839	-			202					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.606G>T	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538634	0.27475	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.03124	4.04;4.04	5.07	4.1	0.47936	.	0.249942	0.44483	N	0.000446	T	0.05640	0.0148	L	0.49513	1.565	0.30700	N	0.750376	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.15870	0.014;0.003;0.009;0.005;0.005	T	0.04737	-1.0930	10	0.25751	T	0.34	.	16.2168	0.82237	0.136:0.864:0.0:0.0	.	202;159;159;185;202	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	N	202;202;159	ENSP00000406220:K202N;ENSP00000370464:K159N	ENSP00000293800:K202N	K	-	3	2	SLC13A5	6547123	0.974000	0.33945	0.218000	0.23776	0.002000	0.02628	0.762000	0.26503	0.808000	0.34231	-1.367000	0.01198	AAG		0.637	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		24	43	1	0	3.08376e-08	1	3.68275e-08	24	43				
ULBP3	79465	broad.mit.edu	37	6	150386666	150386666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150386666C>A	ENST00000367339.2	-	3	524	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ULBP3_ENST00000438272.2_Missense_Mutation_p.A166S			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	166	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ATCCGCCTGGCTCCAGCGTGA	0.512																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(496-498)Gcc>Tcc		UL16 binding protein 3							150.0	145.0	147.0					6																	150386666		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150386666C>A	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.496G>T	6.37:g.150386666C>A	ENSP00000356308:p.Ala166Ser					ULBP3_ENST00000438272.2_Missense_Mutation_p.A166S	p.A166S			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	3	524	-		Ovarian(120;0.12)	166			MHC class I alpha-2 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.496G>T	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643699	0.47258	.	.	ENSG00000131019	ENST00000399812;ENST00000367339;ENST00000438272	T;T	0.12255	2.7;2.7	3.34	-0.533	0.11887	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.14787	0.0357	M	0.74467	2.265	0.09310	N	1	P;P	0.40083	0.702;0.702	P;P	0.58013	0.831;0.831	T	0.25779	-1.0122	9	0.87932	D	0	-0.689	4.3498	0.11150	0.5223:0.3575:0.0:0.1202	.	166;166	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	S	117;166;166	ENSP00000356308:A166S;ENSP00000403562:A166S	ENSP00000356308:A166S	A	-	1	0	ULBP3	150428359	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.352000	0.20113	-0.111000	0.12001	0.491000	0.48974	GCC		0.512	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			12	107	1	0	1.05317e-09	1	1.28483e-09	12	107				
EIF4G2	1982	broad.mit.edu	37	11	10824815	10824815	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824815T>C	ENST00000526148.1	-	10	1350	c.840A>G	c.(838-840)cgA>cgG	p.R280R	EIF4G2_ENST00000525681.1_Silent_p.R280R|EIF4G2_ENST00000396525.2_Silent_p.R280R|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000339995.5_Silent_p.R280R|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGAGCACATTCGGGCAAAGT	0.368																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(838-840)cgA>cgG		eukaryotic translation initiation factor 4 gamma, 2							73.0	65.0	68.0					11																	10824815		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10824815T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.840A>G	11.37:g.10824815T>C						EIF4G2_ENST00000525681.1_Silent_p.R280R|EIF4G2_ENST00000396525.2_Silent_p.R280R|EIF4G2_ENST00000339995.5_Silent_p.R280R	p.R280R	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	10	1350	-			280			MIF4G.			Silent	SNP	ENST00000526148.1	37	c.840A>G	CCDS31428.1																																																																																				0.368	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		3	40	0	0	0	1	0	3	40				
DUSP16	80824	broad.mit.edu	37	12	12630810	12630810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630810G>A	ENST00000228862.2	-	7	1586	c.955C>T	c.(955-957)Cca>Tca	p.P319S	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	319					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGTTCATTTGGCTTCTCCAGG	0.542																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(955-957)Cca>Tca		dual specificity phosphatase 16							79.0	74.0	76.0					12																	12630810		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630810G>A	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.955C>T	12.37:g.12630810G>A	ENSP00000228862:p.Pro319Ser					DUSP16_ENST00000298573.4_3'UTR	p.P319S	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1586	-		Prostate(47;0.0687)	319					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.955C>T	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932694	0.18131	.	.	ENSG00000111266	ENST00000228862	T	0.01871	4.59	5.34	2.4	0.29515	.	1.775900	0.02661	N	0.107514	T	0.02012	0.0063	N	0.16478	0.41	0.49213	D	0.999768	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42085	-0.9472	10	0.19590	T	0.45	.	5.6426	0.17572	0.0817:0.3366:0.4663:0.1154	.	319;319	Q9BY84;Q96N49	DUS16_HUMAN;.	S	319	ENSP00000228862:P319S	ENSP00000228862:P319S	P	-	1	0	DUSP16	12522077	0.980000	0.34600	0.968000	0.41197	0.866000	0.49608	0.414000	0.21164	0.621000	0.30232	0.563000	0.77884	CCA		0.542	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		30	58	0	0	0	1	0	30	58				
PEX3	8504	broad.mit.edu	37	6	143810334	143810334	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143810334T>G	ENST00000367591.4	+	12	1156	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	365					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GTATGAAGCTTTTAGTACCCC	0.338																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(1093-1095)Ttt>Gtt		peroxisomal biogenesis factor 3							147.0	148.0	148.0					6																	143810334		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143810334T>G	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.1093T>G	6.37:g.143810334T>G	ENSP00000356563:p.Phe365Val					RP1-20N2.6_ENST00000591892.1_RNA	p.F365V	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	12	1156	+			365					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.1093T>G	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998559	0.74818	.	.	ENSG00000034693	ENST00000367591	T	0.54279	0.58	5.48	5.48	0.80851	.	0.132292	0.64402	D	0.000001	T	0.68430	0.3000	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74365	-0.3689	10	0.87932	D	0	-23.1156	14.851	0.70297	0.0:0.0:0.0:1.0	.	365	P56589	PEX3_HUMAN	V	365	ENSP00000356563:F365V	ENSP00000356563:F365V	F	+	1	0	PEX3	143852027	1.000000	0.71417	0.994000	0.49952	0.895000	0.52256	4.607000	0.61133	2.209000	0.71365	0.528000	0.53228	TTT		0.338	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			8	108	0	0	0	1	0	8	108				
CLEC12B	387837	broad.mit.edu	37	12	10168241	10168241	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10168241T>C	ENST00000338896.5	+	5	723	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Missense_Mutation_p.F199L	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						ATTACTCATGTTTTCGTTCTT	0.428																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(595-597)Ttt>Ctt		C-type lectin domain family 12, member B							166.0	152.0	157.0					12																	10168241		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10168241T>C	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.595T>C	12.37:g.10168241T>C	ENSP00000344563:p.Phe199Leu					RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.F199L	p.F199L	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			5	723	+			199			C-type lectin.		Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.595T>C	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	T	6.946	0.544344	0.13312	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.17854	2.25;2.25	4.04	-2.96	0.05547	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.806640	0.02730	N	0.114955	T	0.11324	0.0276	L	0.31371	0.925	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22765	-1.0207	10	0.23891	T	0.37	.	4.3392	0.11101	0.16:0.3826:0.0:0.4574	.	199;199	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	L	199	ENSP00000379759:F199L;ENSP00000344563:F199L	ENSP00000344563:F199L	F	+	1	0	CLEC12B	10059508	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.785000	0.04628	-0.531000	0.06340	0.402000	0.26972	TTT		0.428	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		43	71	0	0	0	1	0	43	71				
TPH2	121278	broad.mit.edu	37	12	72338373	72338373	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72338373G>T	ENST00000333850.3	+	4	588	c.447G>T	c.(445-447)gaG>gaT	p.E149D	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	149					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAGAGCTAGAGGATGTGCCCT	0.438																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(445-447)gaG>gaT		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						150.0	148.0	149.0					12																	72338373		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72338373G>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.447G>T	12.37:g.72338373G>T	ENSP00000329093:p.Glu149Asp					TPH2_ENST00000546576.1_3'UTR	p.E149D	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			4	588	+			149					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.447G>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	5.808	0.333416	0.11013	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99483	-5.99	5.73	0.354	0.16063	Aromatic amino acid hydroxylase, C-terminal (1);	0.667428	0.15487	N	0.259765	D	0.94751	0.8306	N	0.10707	0.03	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.88768	0.3262	10	0.10111	T	0.7	-19.7069	0.6398	0.00809	0.2763:0.2764:0.2556:0.1917	.	149	Q8IWU9	TPH2_HUMAN	D	149	ENSP00000329093:E149D	ENSP00000266669:E149D	E	+	3	2	TPH2	70624640	0.258000	0.24033	1.000000	0.80357	0.994000	0.84299	-0.458000	0.06737	0.344000	0.23847	0.650000	0.86243	GAG		0.438	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		4	82	1	0	0.150653	1	0.152692	4	82				
ZBTB34	403341	broad.mit.edu	37	9	129643140	129643140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129643140A>G	ENST00000373452.2	+	1	1514	c.1450A>G	c.(1450-1452)Atg>Gtg	p.M484V	ZBTB34_ENST00000319119.4_Missense_Mutation_p.M488V			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGCCTCAGAGATGGGCCTAGA	0.483																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(1462-1464)Atg>Gtg		zinc finger and BTB domain containing 34							38.0	39.0	38.0					9																	129643140		2000	4154	6154	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129643140A>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.1450A>G	9.37:g.129643140A>G	ENSP00000362551:p.Met484Val					ZBTB34_ENST00000373452.2_Missense_Mutation_p.M484V	p.M488V	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	1547	+			484					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.1462A>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.988155	0.00443	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.07908	3.15;3.16	5.63	1.76	0.24704	.	0.613339	0.18715	N	0.133200	T	0.03434	0.0099	N	0.08118	0	0.23661	N	0.99718	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	10	0.30854	T	0.27	.	3.3303	0.07082	0.6217:0.1296:0.1219:0.1268	.	484	Q8NCN2	ZBT34_HUMAN	V	488;484	ENSP00000317534:M488V;ENSP00000362551:M484V	ENSP00000317534:M488V	M	+	1	0	ZBTB34	128682961	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	1.485000	0.35519	0.350000	0.24002	0.459000	0.35465	ATG		0.483	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		7	29	0	0	0	1	0	7	29				
SLC27A6	28965	broad.mit.edu	37	5	128365298	128365298	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:128365298T>C	ENST00000262462.4	+	9	2591	c.1581T>C	c.(1579-1581)tcT>tcC	p.S527S	SLC27A6_ENST00000506176.1_Silent_p.S527S|SLC27A6_ENST00000395266.1_Silent_p.S527S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	527					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATGGCTTCTATTATTTTAA	0.284																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1579-1581)tcT>tcC		solute carrier family 27 (fatty acid transporter), member 6							50.0	51.0	51.0					5																	128365298		2201	4290	6491	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128365298T>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1581T>C	5.37:g.128365298T>C						SLC27A6_ENST00000395266.1_Silent_p.S527S|SLC27A6_ENST00000506176.1_Silent_p.S527S	p.S527S			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	9	2591	+		all_cancers(142;0.0483)|Prostate(80;0.055)	527					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.1581T>C	CCDS4145.1																																																																																				0.284	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		19	41	0	0	0	1	0	19	41				
USF2	7392	broad.mit.edu	37	19	35761456	35761456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35761456C>T	ENST00000222305.3	+	5	573	c.536C>T	c.(535-537)aCg>aTg	p.T179M	USF2_ENST00000379134.3_Intron|USF2_ENST00000343550.5_Missense_Mutation_p.T112M|USF2_ENST00000595068.1_Missense_Mutation_p.T179M|USF2_ENST00000594064.1_Missense_Mutation_p.T177M	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	179					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGAGATACTACGGCTGTGTCC	0.607																																					NSCLC(103;173 2832 8890)	ENST00000222305.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13						c.(535-537)aCg>aTg		upstream transcription factor 2, c-fos interacting							86.0	84.0	85.0					19																	35761456		2203	4300	6503	SO:0001583	missense	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35761456C>T	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.536C>T	19.37:g.35761456C>T	ENSP00000222305:p.Thr179Met					USF2_ENST00000379134.3_Intron|USF2_ENST00000594064.1_Missense_Mutation_p.T177M|USF2_ENST00000343550.5_Missense_Mutation_p.T112M|USF2_ENST00000595068.1_Missense_Mutation_p.T179M	p.T179M	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	573	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		179					O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Missense_Mutation	SNP	ENST00000222305.3	37	c.536C>T	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026415	0.54683	.	.	ENSG00000105698	ENST00000222305;ENST00000343550	D;D	0.93859	-3.3;-3.26	3.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	L	0.46741	1.465	0.80722	D	1	P;P;P	0.47677	0.899;0.884;0.815	B;B;B	0.41988	0.372;0.301;0.158	D	0.89399	0.3694	10	0.38643	T	0.18	.	13.1763	0.59629	0.0:1.0:0.0:0.0	.	177;112;179	B4DLJ1;Q15853-3;Q15853	.;.;USF2_HUMAN	M	179;112	ENSP00000222305:T179M;ENSP00000340633:T112M	ENSP00000222305:T179M	T	+	2	0	USF2	40453296	1.000000	0.71417	0.990000	0.47175	0.633000	0.38033	6.747000	0.74872	2.025000	0.59659	0.555000	0.69702	ACG		0.607	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		11	28	0	0	0	1	0	11	28				
CXorf21	80231	broad.mit.edu	37	X	30577669	30577669	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30577669T>A	ENST00000378962.3	-	3	1126	c.804A>T	c.(802-804)agA>agT	p.R268S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	268										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGACTATATCTCTGGCTTTTG	0.403																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(802-804)agA>agT		chromosome X open reading frame 21							75.0	68.0	71.0					X																	30577669		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577669T>A	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.804A>T	X.37:g.30577669T>A	ENSP00000368245:p.Arg268Ser						p.R268S	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	1126	-			268						Missense_Mutation	SNP	ENST00000378962.3	37	c.804A>T	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	T	5.218	0.225744	0.09916	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	-4.5	0.03493	.	0.290571	0.32416	N	0.006130	T	0.45637	0.1352	L	0.50333	1.59	0.19575	N	0.999963	B	0.19200	0.034	B	0.21708	0.036	T	0.28839	-1.0031	9	0.72032	D	0.01	-3.8943	17.6614	0.88193	0.0:0.2606:0.0:0.7394	.	268	Q9HAI6	CX021_HUMAN	S	268	.	ENSP00000368245:R268S	R	-	3	2	CXorf21	30487590	0.450000	0.25697	0.015000	0.15790	0.227000	0.25037	-0.309000	0.08145	-1.349000	0.02202	-2.203000	0.00303	AGA		0.403	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		10	92	0	0	0	1	0	10	92				
AARSD1	80755	broad.mit.edu	37	17	41107181	41107181	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41107181C>T	ENST00000427569.2	-	8	890	c.855G>A	c.(853-855)ctG>ctA	p.L285L	PTGES3L-AARSD1_ENST00000409103.1_Silent_p.L368L|AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_Silent_p.L398L|PTGES3L-AARSD1_ENST00000409399.1_Silent_p.L459L|PTGES3L-AARSD1_ENST00000421990.2_Silent_p.L459L	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	285					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCACCTTCTGCAGGATCTTGG	0.512																																						ENST00000421990.2																			0											c.(1375-1377)ctG>ctA									118.0	109.0	112.0					17																	41107181		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:41107181C>T	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.855G>A	17.37:g.41107181C>T						PTGES3L-AARSD1_ENST00000409399.1_Silent_p.L459L|PTGES3L-AARSD1_ENST00000409103.1_Silent_p.L368L|PTGES3L-AARSD1_ENST00000360221.4_Silent_p.L398L|AARSD1_ENST00000427569.2_Silent_p.L285L	p.L459L	NM_001136042.2	NP_001129514.2					13	1722	-								B4DI73	Silent	SNP	ENST00000427569.2	37	c.1377G>A	CCDS58552.1																																																																																				0.512	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		6	66	0	0	0	1	0	6	66				
DHX30	22907	broad.mit.edu	37	3	47888776	47888776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888776G>A	ENST00000445061.1	+	12	2350	c.1943G>A	c.(1942-1944)tGc>tAc	p.C648Y	DHX30_ENST00000348968.4_Missense_Mutation_p.C620Y|DHX30_ENST00000446256.2_Missense_Mutation_p.C609Y|DHX30_ENST00000457607.1_Missense_Mutation_p.C676Y|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	648						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGGATGAATGCGCACTCGAT	0.612																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1825-1827)tGc>tAc		DEAH (Asp-Glu-Ala-His) box helicase 30							178.0	142.0	154.0					3																	47888776		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888776G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1943G>A	3.37:g.47888776G>A	ENSP00000405620:p.Cys648Tyr					DHX30_ENST00000445061.1_Missense_Mutation_p.C648Y|DHX30_ENST00000348968.4_Missense_Mutation_p.C620Y|DHX30_ENST00000457607.1_Missense_Mutation_p.C676Y	p.C609Y	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	13	2398	+			648			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1826G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896294	0.17686	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02579	4.24;4.24;4.24;4.24	4.76	3.87	0.44632	.	0.512898	0.22288	N	0.062038	T	0.01765	0.0056	N	0.11201	0.11	0.09310	N	0.999997	B;B	0.33883	0.43;0.001	B;B	0.25614	0.062;0.001	T	0.51276	-0.8726	10	0.40728	T	0.16	.	11.4261	0.50012	0.088:0.0:0.912:0.0	.	648;609	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	Y	609;648;620;676	ENSP00000392601:C609Y;ENSP00000405620:C648Y;ENSP00000343442:C620Y;ENSP00000394682:C676Y	ENSP00000343442:C620Y	C	+	2	0	DHX30	47863780	0.941000	0.31946	0.436000	0.26797	0.885000	0.51271	2.488000	0.45276	2.157000	0.67596	0.462000	0.41574	TGC		0.612	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		30	53	0	0	0	1	0	30	53				
GSTA5	221357	broad.mit.edu	37	6	52698993	52698993	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52698993C>A	ENST00000370989.2	-	4	389	c.360G>T	c.(358-360)aaG>aaT	p.K120N	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.K120N			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	120	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CCAAGGCAGTCTTGGCATCTC	0.383																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(358-360)aaG>aaT		glutathione S-transferase alpha 5	Glutathione(DB00143)						260.0	249.0	252.0					6																	52698993		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52698993C>A	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.360G>T	6.37:g.52698993C>A	ENSP00000360028:p.Lys120Asn					GSTA5_ENST00000284562.2_Missense_Mutation_p.K120N|GSTA5_ENST00000475052.1_5'UTR	p.K120N			Q7RTV2	GSTA5_HUMAN			5	518	-	Lung NSC(77;0.0912)		120			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.360G>T	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	2.516	-0.311854	0.05422	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02067	4.47;4.47	2.58	-1.16	0.09678	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.792838	0.11713	N	0.536758	T	0.00580	0.0019	L	0.42686	1.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47573	-0.9107	10	0.25106	T	0.35	.	0.8766	0.01225	0.1694:0.2474:0.3339:0.2493	.	120	Q7RTV2	GSTA5_HUMAN	N	120	ENSP00000360028:K120N;ENSP00000284562:K120N	ENSP00000284562:K120N	K	-	3	2	GSTA5	52806952	0.000000	0.05858	0.040000	0.18447	0.082000	0.17680	-0.788000	0.04614	-0.016000	0.14127	0.184000	0.17185	AAG		0.383	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		20	229	1	0	3.8784e-16	1	4.99462e-16	20	229				
EIF2AK4	440275	broad.mit.edu	37	15	40265883	40265883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40265883C>T	ENST00000263791.5	+	11	1794	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.S584F|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S584F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	584					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGACAGTTTTCCCGATACTTC	0.428																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1750-1752)tCc>tTc		eukaryotic translation initiation factor 2 alpha kinase 4							157.0	146.0	149.0					15																	40265883		1887	4114	6001	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40265883C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1751C>T	15.37:g.40265883C>T	ENSP00000263791:p.Ser584Phe					EIF2AK4_ENST00000559624.1_Missense_Mutation_p.S584F|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S584F	p.S584F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	11	1794	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	584					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.1751C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200822	0.94997	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.79033	-1.23;-1.16	5.7	5.7	0.88788	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87841	0.2651	10	0.87932	D	0	-16.5305	19.8894	0.96925	0.0:1.0:0.0:0.0	.	584;584	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	F	584	ENSP00000263791:S584F;ENSP00000372174:S584F	ENSP00000263791:S584F	S	+	2	0	EIF2AK4	38053175	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.575000	0.82447	2.704000	0.92352	0.586000	0.80456	TCC		0.428	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			58	81	0	0	0	1	0	58	81				
IL1R2	7850	broad.mit.edu	37	2	102626209	102626209	+	Missense_Mutation	SNP	C	C	T	rs139061430	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626209C>T	ENST00000332549.3	+	3	482	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	IL1R2_ENST00000441002.1_Missense_Mutation_p.R85W|IL1R2_ENST00000393414.2_Missense_Mutation_p.R85W	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	85	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						AGAAGAGACACGGATGTGGGC	0.597																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(253-255)Cgg>Tgg		interleukin 1 receptor, type II	Anakinra(DB00026)	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	149.0	158.0	155.0		253,253	1.9	0.0	2	dbSNP_134	155	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	IL1R2	NM_004633.3,NM_173343.1	101,101	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging,probably-damaging	85/399,85/399	102626209	5,13001	2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626209C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.253C>T	2.37:g.102626209C>T	ENSP00000330959:p.Arg85Trp					IL1R2_ENST00000393414.2_Missense_Mutation_p.R85W|IL1R2_ENST00000441002.1_Missense_Mutation_p.R85W	p.R85W	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			3	482	+			85			Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.253C>T	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359332	0.82353	0.0	5.81E-4	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.5	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	M	0.91406	3.205	0.09310	N	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.72981	-0.4126	10	0.87932	D	0	.	11.8448	0.52378	0.6777:0.3223:0.0:0.0	.	85	P27930	IL1R2_HUMAN	W	85	ENSP00000330959:R85W;ENSP00000377066:R85W;ENSP00000408415:R85W;ENSP00000414611:R85W	ENSP00000330959:R85W	R	+	1	2	IL1R2	101992641	0.122000	0.22280	0.014000	0.15608	0.666000	0.39218	0.424000	0.21330	0.655000	0.30866	0.561000	0.74099	CGG		0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		8	194	0	0	0	1	0	8	194				
LTBP4	8425	broad.mit.edu	37	19	41120228	41120228	+	Silent	SNP	C	C	T	rs370260014		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41120228C>T	ENST00000308370.7	+	22	2889	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	LTBP4_ENST00000545697.1_Silent_p.D416D|LTBP4_ENST00000396819.3_Silent_p.D896D|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.D926D|LTBP4_ENST00000243562.9_Silent_p.D61D	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	963	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGACGTGGACGAATGTCGCG	0.652																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2887-2889)gaC>gaT		latent transforming growth factor beta binding protein 4							38.0	41.0	40.0					19																	41120228		1977	4163	6140	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41120228C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2889C>T	19.37:g.41120228C>T						LTBP4_ENST00000204005.9_Silent_p.D926D|LTBP4_ENST00000243562.9_Silent_p.D61D|LTBP4_ENST00000396819.3_Silent_p.D896D|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.D416D	p.D963D	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		22	2889	+			963			Cys-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.2889C>T																																																																																					0.652	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		14	19	0	0	0	1	0	14	19				
FUBP3	8939	broad.mit.edu	37	9	133491792	133491792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133491792C>A	ENST00000319725.9	+	7	530	c.455C>A	c.(454-456)cCt>cAt	p.P152H		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	152					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CGAAATGGACCTGGCTTTCAT	0.498																																						ENST00000319725.9																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(454-456)cCt>cAt		far upstream element (FUSE) binding protein 3							74.0	73.0	73.0					9																	133491792		1988	4158	6146	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133491792C>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.455C>A	9.37:g.133491792C>A	ENSP00000318177:p.Pro152His						p.P152H	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	7	530	+			152					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.455C>A	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870037	0.72065	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.46063	0.88	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.959;0.959	T	0.80223	-0.1471	10	0.62326	D	0.03	-10.4561	17.735	0.88390	0.0:1.0:0.0:0.0	.	92;152;152	Q96I24-2;A3KFK8;Q96I24	.;.;FUBP3_HUMAN	H	139;152;92	ENSP00000318177:P152H	ENSP00000318177:P152H	P	+	2	0	FUBP3	132481613	1.000000	0.71417	0.937000	0.37676	0.966000	0.64601	7.757000	0.85209	2.437000	0.82529	0.561000	0.74099	CCT		0.498	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			18	37	1	0	1.99824e-07	1	2.35189e-07	18	37				
EEF2K	29904	broad.mit.edu	37	16	22269826	22269826	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22269826G>T	ENST00000263026.5	+	10	1515	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	347					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AATCAGCCAAGACCATCTTGA	0.532																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(1039-1041)aaG>aaT		eukaryotic elongation factor-2 kinase							67.0	74.0	72.0					16																	22269826		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22269826G>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1041G>T	16.37:g.22269826G>T	ENSP00000263026:p.Lys347Asn						p.K347N	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	10	1515	+			347					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1041G>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749700	0.49257	.	.	ENSG00000103319	ENST00000263026	T	0.29655	1.56	5.8	3.86	0.44501	.	0.102688	0.64402	D	0.000002	T	0.19087	0.0458	N	0.19112	0.55	0.46954	D	0.999263	B	0.18166	0.026	B	0.18871	0.023	T	0.04593	-1.0940	10	0.22109	T	0.4	-15.1735	11.3398	0.49527	0.2002:0.0:0.7998:0.0	.	347	O00418	EF2K_HUMAN	N	347	ENSP00000263026:K347N	ENSP00000263026:K347N	K	+	3	2	EEF2K	22177327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.430000	0.44766	0.821000	0.34540	0.563000	0.77884	AAG		0.532	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		6	71	1	0	0.217242	1	0.218821	6	71				
DOCK3	1795	broad.mit.edu	37	3	51127792	51127792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51127792C>T	ENST00000266037.9	+	9	746	c.723C>T	c.(721-723)gaC>gaT	p.D241D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	241					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTTATATGACATGAGGGAAG	0.458																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(721-723)gaC>gaT		dedicator of cytokinesis 3							69.0	65.0	67.0					3																	51127792		1938	4148	6086	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51127792C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.723C>T	3.37:g.51127792C>T							p.D241D	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	9	746	+			241					O15017	Silent	SNP	ENST00000266037.9	37	c.723C>T	CCDS46835.1																																																																																				0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		7	14	0	0	0	1	0	7	14				
TTC27	55622	broad.mit.edu	37	2	33012102	33012102	+	Silent	SNP	C	C	T	rs201493752		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33012102C>T	ENST00000317907.4	+	16	2115	c.1884C>T	c.(1882-1884)caC>caT	p.H628H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	628										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTATGAACACTGGCAGATTT	0.368																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1882-1884)caC>caT		tetratricopeptide repeat domain 27							81.0	79.0	79.0					2																	33012102		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:33012102C>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1884C>T	2.37:g.33012102C>T							p.H628H	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			16	2115	+			628					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.1884C>T	CCDS33176.1																																																																																				0.368	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		5	55	0	0	0	1	0	5	55				
RAD54L2	23132	broad.mit.edu	37	3	51667724	51667724	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51667724C>T	ENST00000409535.2	+	7	1082	c.957C>T	c.(955-957)atC>atT	p.I319I	RAD54L2_ENST00000296477.3_Silent_p.I13I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	319	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTCTTTCATCGACGTCCTCT	0.517																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(955-957)atC>atT		RAD54-like 2 (S. cerevisiae)							87.0	90.0	89.0					3																	51667724		2203	4300	6503	SO:0001819	synonymous_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51667724C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.957C>T	3.37:g.51667724C>T						RAD54L2_ENST00000296477.3_Silent_p.I13I	p.I319I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	7	1082	+			319			Helicase ATP-binding.		Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	c.957C>T	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	C	1.200	-0.632721	0.03584	.	.	ENSG00000164080	ENST00000432863	.	.	.	5.46	-6.02	0.02192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.411	3.6174	0.08082	0.0964:0.1184:0.3168:0.4683	.	.	.	.	X	148	.	.	R	+	1	2	RAD54L2	51642764	0.003000	0.15002	0.122000	0.21767	0.091000	0.18340	-1.468000	0.02350	-0.641000	0.05487	-0.150000	0.13652	CGA		0.517	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		30	47	0	0	0	1	0	30	47				
APBB1	322	broad.mit.edu	37	11	6422859	6422859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6422859C>T	ENST00000609360.1	-	10	1547	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	APBB1_ENST00000608645.1_Missense_Mutation_p.R224H|APBB1_ENST00000389906.2_Missense_Mutation_p.R483H|APBB1_ENST00000299402.6_Missense_Mutation_p.R481H|APBB1_ENST00000311051.3_Missense_Mutation_p.R481H|APBB1_ENST00000608394.1_Missense_Mutation_p.R224H|APBB1_ENST00000609331.1_Missense_Mutation_p.R248H|APBB1_ENST00000608704.1_Missense_Mutation_p.R224H|APBB1_ENST00000529519.1_Missense_Mutation_p.R8H|APBB1_ENST00000530885.1_Missense_Mutation_p.R261H|APBB1_ENST00000608655.1_Missense_Mutation_p.R263H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	483	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCCTCACAGCGAAACACGTG	0.577																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.R481L(1)	kidney(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1447-1449)cGc>cAc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							176.0	123.0	141.0					11																	6422859		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422859C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1448G>A	11.37:g.6422859C>T	ENSP00000477213:p.Arg483His					APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000533407.1_Missense_Mutation_p.R222H|APBB1_ENST00000530885.1_Missense_Mutation_p.R261H|APBB1_ENST00000299402.6_Missense_Mutation_p.R481H|APBB1_ENST00000311051.3_Missense_Mutation_p.R481H	p.R483H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	9	1547	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	483			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1448G>A		.	.	.	.	.	.	.	.	.	.	C	19.55	3.848290	0.71603	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	4.15	3.24	0.37175	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.43875	0.1267	M	0.79123	2.44	0.58432	D	0.999997	D;P;P;B	0.89917	1.0;0.669;0.837;0.291	D;B;P;B	0.87578	0.998;0.415;0.517;0.063	T	0.37174	-0.9717	10	0.62326	D	0.03	-9.0566	9.629	0.39768	0.0:0.895:0.0:0.105	.	86;483;261;481	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	H	481;481;483;332;224;248;261;222	ENSP00000299402:R481H;ENSP00000311912:R481H;ENSP00000374556:R483H;ENSP00000433338:R261H;ENSP00000437114:R222H	ENSP00000299402:R481H	R	-	2	0	APBB1	6379435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.916000	0.39986	0.951000	0.37770	0.591000	0.81541	CGC		0.577	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		21	29	0	0	0	1	0	21	29				
PCDH11X	27328	broad.mit.edu	37	X	91873475	91873475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91873475G>A	ENST00000373094.1	+	7	4425	c.3580G>A	c.(3580-3582)Gct>Act	p.A1194T	PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1186T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1157T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1157T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1176T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1184T|PCDH11X_ENST00000504220.2_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1194					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACAGACCATTGCTCTCTGCCA	0.587																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3580-3582)Gct>Act		protocadherin 11 X-linked							269.0	201.0	224.0					X																	91873475		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873475G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3580G>A	X.37:g.91873475G>A	ENSP00000362186:p.Ala1194Thr					PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1184T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1186T|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1157T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1176T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1157T	p.A1194T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4425	+			1194					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3580G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	8.866	0.948145	0.18356	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.51817	0.69;0.7;0.72;0.69;0.71;0.72	3.93	2.08	0.27032	.	.	.	.	.	T	0.13670	0.0331	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.001	T	0.29822	-0.9999	9	0.06891	T	0.86	.	3.2408	0.06780	0.2389:0.0:0.5557:0.2054	.	1157;1176;1186;1184;1194	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	T	1194;1184;1157;1176;1186;1194;1157	ENSP00000362186:A1194T;ENSP00000362189:A1184T;ENSP00000362180:A1157T;ENSP00000355105:A1176T;ENSP00000384758:A1186T;ENSP00000298274:A1157T	ENSP00000298274:A1157T	A	+	1	0	PCDH11X	91760131	0.002000	0.14202	0.496000	0.27539	0.932000	0.56968	1.013000	0.29937	0.265000	0.21872	0.466000	0.42574	GCT		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	85	0	0	0	1	0	5	85				
ENOSF1	55556	broad.mit.edu	37	18	691249	691249	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691249C>A	ENST00000251101.7	-	6	539	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D172Y|ENOSF1_ENST00000383578.3_Missense_Mutation_p.D69Y	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	151					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TACCTGAAATCTATGCAGGAT	0.458																																						ENST00000383578.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(205-207)Gat>Tat		enolase superfamily member 1							79.0	75.0	76.0					18																	691249		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:691249C>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.451G>T	18.37:g.691249C>A	ENSP00000251101:p.Asp151Tyr					ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D172Y|ENOSF1_ENST00000251101.7_Missense_Mutation_p.D151Y|ENOSF1_ENST00000580982.1_Intron	p.D69Y	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN			5	409	-			151					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.205G>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478379	0.84747	.	.	ENSG00000132199	ENST00000383578;ENST00000251101;ENST00000340116	T;T;T	0.36520	1.25;1.65;1.57	5.37	4.49	0.54785	.	0.044888	0.85682	D	0.000000	T	0.69984	0.3172	H	0.95224	3.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.78976	-0.1991	10	0.62326	D	0.03	.	13.4198	0.60989	0.0:0.9214:0.0:0.0786	.	172;196;151;69	A6NMP3;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;ENOF1_HUMAN;.	Y	69;151;172	ENSP00000373072:D69Y;ENSP00000251101:D151Y;ENSP00000345974:D172Y	ENSP00000251101:D151Y	D	-	1	0	ENOSF1	681249	1.000000	0.71417	0.839000	0.33178	0.984000	0.73092	4.759000	0.62227	1.241000	0.43820	0.650000	0.86243	GAT		0.458	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		11	45	1	0	0.000978159	1	0.00105116	11	45				
COL15A1	1306	broad.mit.edu	37	9	101748295	101748295	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101748295C>T	ENST00000375001.3	+	3	972	c.549C>T	c.(547-549)agC>agT	p.S183S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	183	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGAGCACAGCCGCATCCCCT	0.587																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(547-549)agC>agT		collagen, type XV, alpha 1							58.0	58.0	58.0					9																	101748295		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748295C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.549C>T	9.37:g.101748295C>T							p.S183S	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	972	+		Acute lymphoblastic leukemia(62;0.0562)	183			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.549C>T	CCDS35081.1																																																																																				0.587	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		29	33	0	0	0	1	0	29	33				
HERC2	8924	broad.mit.edu	37	15	28369239	28369239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28369239G>A	ENST00000261609.7	-	85	13240	c.13132C>T	c.(13132-13134)Ctc>Ttc	p.L4378F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGGCCCGAGTCCAGTTTCG	0.562																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(13132-13134)Ctc>Ttc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							99.0	92.0	95.0					15																	28369239		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28369239G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13132C>T	15.37:g.28369239G>A	ENSP00000261609:p.Leu4378Phe						p.L4378F	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	85	13240	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4378						Missense_Mutation	SNP	ENST00000261609.7	37	c.13132C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	7.205	0.594166	0.13875	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.55	5.55	0.83447	.	0.267076	0.37906	N	0.001889	T	0.25606	0.0623	N	0.08118	0	0.39911	D	0.974027	B	0.21381	0.055	B	0.20384	0.029	T	0.13629	-1.0502	10	0.09843	T	0.71	.	19.5062	0.95116	0.0:0.0:1.0:0.0	.	4378	O95714	HERC2_HUMAN	F	4378	ENSP00000261609:L4378F	ENSP00000261609:L4378F	L	-	1	0	HERC2	26042834	1.000000	0.71417	0.048000	0.18961	0.005000	0.04900	9.860000	0.99555	2.604000	0.88044	0.655000	0.94253	CTC		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		17	30	0	0	0	1	0	17	30				
OR6C74	254783	broad.mit.edu	37	12	55641583	55641583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641583C>T	ENST00000343870.4	+	1	602	c.512C>T	c.(511-513)aCt>aTt	p.T171I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCAACACTGTAGATCAT	0.443																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(511-513)aCt>aTt		olfactory receptor, family 6, subfamily C, member 74							83.0	79.0	80.0					12																	55641583		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641583C>T		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.512C>T	12.37:g.55641583C>T	ENSP00000342836:p.Thr171Ile						p.T171I	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	602	+			171						Missense_Mutation	SNP	ENST00000343870.4	37	c.512C>T	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.240519	0.00274	.	.	ENSG00000197706	ENST00000343870	T	0.00027	8.93	5.45	0.81	0.18732	GPCR, rhodopsin-like superfamily (1);	0.733106	0.12161	N	0.493999	T	0.00039	0.0001	N	0.01009	-1.055	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03807	-1.1002	10	0.08599	T	0.76	.	3.7994	0.08753	0.2693:0.4001:0.0:0.3305	.	171	A6NCV1	O6C74_HUMAN	I	171	ENSP00000342836:T171I	ENSP00000342836:T171I	T	+	2	0	OR6C74	53927850	0.000000	0.05858	0.001000	0.08648	0.281000	0.26958	-1.192000	0.03052	0.324000	0.23333	0.551000	0.68910	ACT		0.443	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			22	54	0	0	0	1	0	22	54				
CAPN9	10753	broad.mit.edu	37	1	230895265	230895265	+	Nonsense_Mutation	SNP	C	C	A	rs546649026		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230895265C>A	ENST00000271971.2	+	3	404	c.291C>A	c.(289-291)tgC>tgA	p.C97*	CAPN9_ENST00000354537.1_Nonsense_Mutation_p.C97*|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Intron	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	97	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGAGACTGCTGGCTATTAG	0.478																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(289-291)tgC>tgA		calpain 9							67.0	66.0	66.0					1																	230895265		2203	4300	6503	SO:0001587	stop_gained	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230895265C>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.291C>A	1.37:g.230895265C>A	ENSP00000271971:p.Cys97*					RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.C97*	p.C97*	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			3	373	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	97			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Nonsense_Mutation	SNP	ENST00000271971.2	37	c.291C>A	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	C	37	6.067104	0.97251	.	.	ENSG00000135773	ENST00000271971;ENST00000354537	.	.	.	5.23	2.98	0.34508	.	0.082712	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2399	0.37489	0.0:0.6898:0.0:0.3102	.	.	.	.	X	97	.	ENSP00000271971:C97X	C	+	3	2	CAPN9	228961888	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.169000	0.31871	1.197000	0.43143	0.591000	0.81541	TGC		0.478	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		34	35	1	0	6.70999e-13	1	8.46507e-13	34	35				
SND1	27044	broad.mit.edu	37	7	127326801	127326801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127326801G>T	ENST00000354725.3	+	2	407	c.213G>T	c.(211-213)aaG>aaT	p.K71N		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	71	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGATGCAAAGGATACCCCTG	0.557																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(211-213)aaG>aaT		staphylococcal nuclease and tudor domain containing 1							87.0	75.0	79.0					7																	127326801		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127326801G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.213G>T	7.37:g.127326801G>T	ENSP00000346762:p.Lys71Asn						p.K71N	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			2	407	+			71			TNase-like 1.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.213G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231985	0.39399	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.31769	1.48	5.77	-3.16	0.05217	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.044612	0.85682	D	0.000000	T	0.21307	0.0513	L	0.35644	1.08	0.48511	D	0.999663	B	0.23806	0.091	B	0.29663	0.105	T	0.07028	-1.0794	10	0.26408	T	0.33	-19.9309	12.4255	0.55544	0.3587:0.0:0.6413:0.0	.	71	Q7KZF4	SND1_HUMAN	N	71;61	ENSP00000346762:K71N	ENSP00000346762:K71N	K	+	3	2	SND1	127114037	1.000000	0.71417	0.962000	0.40283	0.797000	0.45037	1.636000	0.37144	-0.287000	0.09064	-0.290000	0.09829	AAG		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		17	69	1	0	7.21436e-19	1	9.4273e-19	17	69				
PRPF38B	55119	broad.mit.edu	37	1	109241947	109241947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109241947C>T	ENST00000370025.4	+	6	1215	c.946C>T	c.(946-948)Cga>Tga	p.R316*	PRPF38B_ENST00000370021.1_Nonsense_Mutation_p.R205*	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	316	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAAAGAACGGCGAAGATCCCG	0.512																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(613-615)Cga>Tga		pre-mRNA processing factor 38B							91.0	90.0	90.0					1																	109241947		2203	4300	6503	SO:0001587	stop_gained	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241947C>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.946C>T	1.37:g.109241947C>T	ENSP00000359042:p.Arg316*					PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R316*	p.R205*			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1250	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	316					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Nonsense_Mutation	SNP	ENST00000370025.4	37	c.613C>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	37	5.991173	0.97179	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	.	.	.	5.69	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	14.3049	0.66377	0.1488:0.8512:0.0:0.0	.	.	.	.	X	316;205	.	ENSP00000359038:R205X	R	+	1	2	PRPF38B	109043470	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.203000	0.51075	1.390000	0.46547	-0.293000	0.09583	CGA		0.512	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		6	108	0	0	0	1	0	6	108				
IKBKE	9641	broad.mit.edu	37	1	206651588	206651588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206651588G>A	ENST00000367120.3	+	9	1271	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	IKBKE_ENST00000537984.1_Missense_Mutation_p.A215T	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTTCTTTGCGGAGACCAG	0.602																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(898-900)Gcg>Acg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							162.0	133.0	143.0					1																	206651588		2203	4300	6503	SO:0001583	missense	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206651588G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.898G>A	1.37:g.206651588G>A	ENSP00000356087:p.Ala300Thr					IKBKE_ENST00000537984.1_Missense_Mutation_p.A215T|IKBKE_ENST00000462698.1_3'UTR	p.A300T	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			9	1271	+	Breast(84;0.137)		300			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.898G>A	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.159490	0.78226	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.43688	0.94;1.82	5.31	5.31	0.75309	Protein kinase, catalytic domain (1);	0.168613	0.52532	D	0.000075	T	0.53158	0.1779	N	0.25890	0.77	0.33263	D	0.560066	D;P	0.76494	0.999;0.843	D;B	0.72982	0.979;0.336	T	0.61510	-0.7048	10	0.45353	T	0.12	-5.4135	18.9825	0.92760	0.0:0.0:1.0:0.0	.	215;300	Q3B754;Q14164	.;IKKE_HUMAN	T	300;215	ENSP00000356087:A300T;ENSP00000444529:A215T	ENSP00000356087:A300T	A	+	1	0	IKBKE	204718211	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	5.325000	0.65869	2.496000	0.84212	0.556000	0.70494	GCG		0.602	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			6	87	0	0	0	1	0	6	87				
PTPRT	11122	broad.mit.edu	37	20	41420033	41420033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:41420033C>A	ENST00000373187.1	-	3	287	c.288G>T	c.(286-288)aaG>aaT	p.K96N	PTPRT_ENST00000373193.3_Missense_Mutation_p.K96N|PTPRT_ENST00000356100.2_Missense_Mutation_p.K96N|PTPRT_ENST00000373201.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373190.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373184.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373198.4_Missense_Mutation_p.K96N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	96	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTCATTCTCCTTCAGGGTTG	0.567																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(286-288)aaG>aaT		protein tyrosine phosphatase, receptor type, T							50.0	53.0	52.0					20																	41420033		1939	4156	6095	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41420033C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.288G>T	20.37:g.41420033C>A	ENSP00000362283:p.Lys96Asn					PTPRT_ENST00000373184.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373187.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373190.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373193.3_Missense_Mutation_p.K96N|PTPRT_ENST00000356100.2_Missense_Mutation_p.K96N|PTPRT_ENST00000373201.1_Missense_Mutation_p.K96N	p.K96N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			3	523	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	96			MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.288G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987404	0.53934	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.01947	4.54;4.54;4.54;4.54;4.54;4.54;4.54	5.67	2.69	0.31865	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.42686	1.345	0.52501	D	0.999958	D;D	0.76494	0.999;0.999	D;D	0.74674	0.972;0.984	T	0.22765	-1.0207	10	0.52906	T	0.07	.	8.9654	0.35874	0.0:0.7172:0.0:0.2828	.	96;96	O14522-1;O14522	.;PTPRT_HUMAN	N	96	ENSP00000362286:K96N;ENSP00000362283:K96N;ENSP00000362289:K96N;ENSP00000348408:K96N;ENSP00000362294:K96N;ENSP00000362280:K96N;ENSP00000362297:K96N	ENSP00000348408:K96N	K	-	3	2	PTPRT	40853447	1.000000	0.71417	0.999000	0.59377	0.545000	0.35147	2.206000	0.42779	0.336000	0.23639	0.561000	0.74099	AAG		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	40	1	0	0.00024832	1	0.0002712	4	40				
C12orf4	57102	broad.mit.edu	37	12	4600386	4600386	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4600386G>T	ENST00000261250.3	-	12	1542	c.1455C>A	c.(1453-1455)ccC>ccA	p.P485P	C12orf4_ENST00000545746.1_Silent_p.P485P	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	485										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTAAGCACCAGGGTATAGTCA	0.348																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(1453-1455)ccC>ccA		chromosome 12 open reading frame 4							152.0	137.0	142.0					12																	4600386		2203	4300	6503	SO:0001819	synonymous_variant	57102							g.chr12:4600386G>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1455C>A	12.37:g.4600386G>T						C12orf4_ENST00000545746.1_Silent_p.P485P	p.P485P	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	12	1542	-			485					D3DUQ8|Q6MZH5	Silent	SNP	ENST00000261250.3	37	c.1455C>A	CCDS8528.1																																																																																				0.348	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		43	67	1	0	2.64894e-19	1	3.46538e-19	43	67				
PHLPP2	23035	broad.mit.edu	37	16	71689282	71689282	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71689282A>G	ENST00000568954.1	-	17	2824	c.2446T>C	c.(2446-2448)Tat>Cat	p.Y816H	PHLPP2_ENST00000356272.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000540628.1_Missense_Mutation_p.Y26H|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Missense_Mutation_p.Y851H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000393524.2_Missense_Mutation_p.Y749H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	816	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AACATGCCATACACAGCTCCC	0.463																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2245-2247)Tat>Cat		PH domain and leucine rich repeat protein phosphatase 2							164.0	152.0	156.0					16																	71689282		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71689282A>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2446T>C	16.37:g.71689282A>G	ENSP00000457991:p.Tyr816His					RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Missense_Mutation_p.Y851H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000540628.1_Missense_Mutation_p.Y26H|PHLPP2_ENST00000568954.1_Missense_Mutation_p.Y816H	p.Y749H			Q6ZVD8	PHLP2_HUMAN			15	2978	-			816					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2245T>C	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472955	0.84640	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.68	4.58	0.56647	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.83384	2.64	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09640	-1.0665	10	0.62326	D	0.03	-15.1902	11.435	0.50062	0.8649:0.0:0.0:0.1351	.	749;816	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	H	26;623;816;816;749	ENSP00000445781:Y26H;ENSP00000353610:Y816H;ENSP00000348611:Y816H;ENSP00000377159:Y749H	ENSP00000299971:Y623H	Y	-	1	0	PHLPP2	70246783	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	9.339000	0.96797	0.967000	0.38186	0.533000	0.62120	TAT		0.463	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		8	121	0	0	0	1	0	8	121				
LRRK2	120892	broad.mit.edu	37	12	40692959	40692959	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40692959G>T	ENST00000298910.7	+	25	3454	c.3396G>T	c.(3394-3396)aaG>aaT	p.K1132N	LRRK2_ENST00000343742.2_Missense_Mutation_p.K1132N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1132					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAACTGAAGATTTTAAACC	0.353																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3394-3396)aaG>aaT		leucine-rich repeat kinase 2							149.0	159.0	156.0					12																	40692959		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40692959G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3396G>T	12.37:g.40692959G>T	ENSP00000298910:p.Lys1132Asn					LRRK2_ENST00000343742.2_Missense_Mutation_p.K1132N	p.K1132N	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			25	3454	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1132					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3396G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595420	0.66219	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.26518	2.12;1.73	5.38	4.49	0.54785	.	0.157137	0.56097	D	0.000031	T	0.45438	0.1342	M	0.79123	2.44	0.44880	D	0.997895	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.966	T	0.45381	-0.9265	10	0.66056	D	0.02	.	4.9945	0.14231	0.2138:0.1701:0.6161:0.0	.	1132;1132	E9PC85;Q5S007	.;LRRK2_HUMAN	N	1132	ENSP00000341930:K1132N;ENSP00000298910:K1132N	ENSP00000298910:K1132N	K	+	3	2	LRRK2	38979226	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.317000	0.43770	1.253000	0.44018	0.491000	0.48974	AAG		0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		54	70	1	0	6.60958e-23	1	8.73533e-23	54	70				
MRPS22	56945	broad.mit.edu	37	3	139069024	139069024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139069024C>T	ENST00000495075.1	+	6	940	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	RP11-219D15.3_ENST00000608472.1_RNA|MRPS22_ENST00000478464.1_Missense_Mutation_p.R129C|MRPS22_ENST00000310776.4_Missense_Mutation_p.R170C|MRPS22_ENST00000465056.1_Missense_Mutation_p.R169C			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	170			R -> H (in COXPD5). {ECO:0000269|PubMed:17873122}.			mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTTTAGGAGCGTTTTATTGT	0.398																																						ENST00000495075.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(508-510)Cgt>Tgt		mitochondrial ribosomal protein S22							68.0	66.0	66.0					3																	139069024		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139069024C>T	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.508C>T	3.37:g.139069024C>T	ENSP00000418008:p.Arg170Cys					MRPS22_ENST00000478464.1_Missense_Mutation_p.R129C|MRPS22_ENST00000465056.1_Missense_Mutation_p.R169C|MRPS22_ENST00000310776.4_Missense_Mutation_p.R170C	p.R170C			P82650	RT22_HUMAN			6	940	+			170		R -> H (in COXPD5).			Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.508C>T	CCDS3107.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.372779|4.372779	0.82573|0.82573	.|.	.|.	ENSG00000175110|ENSG00000175110	ENST00000480644|ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	.|D;D;D;D;D	.|0.90324	.|-2.65;-2.65;-2.65;-2.65;-2.65	5.47|5.47	4.59|4.59	0.56863|0.56863	.|.	.|0.044822	.|0.85682	.|D	.|0.000000	D|D	0.95730|0.95730	0.8611|0.8611	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.96222|0.96222	0.9161|0.9161	5|10	.|0.87932	.|D	.|0	-2.6332|-2.6332	14.6342|14.6342	0.68678|0.68678	0.0:0.9284:0.0:0.0716|0.0:0.9284:0.0:0.0716	.|.	.|129;169;170	.|G5E9W7;G5E9V5;P82650	.|.;.;RT22_HUMAN	V|C	16|170;170;169;175;129	.|ENSP00000418008:R170C;ENSP00000310785:R170C;ENSP00000418233:R169C;ENSP00000419920:R175C;ENSP00000419303:R129C	.|ENSP00000310785:R170C	A|R	+|+	2|1	0|0	MRPS22|MRPS22	140551714|140551714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.208000|4.208000	0.58486|0.58486	2.562000|2.562000	0.86427|0.86427	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.398	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		18	28	0	0	0	1	0	18	28				
SH3PXD2A	9644	broad.mit.edu	37	10	105377025	105377025	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105377025G>A	ENST00000369774.4	-	11	1125	c.849C>T	c.(847-849)gaC>gaT	p.D283D	SH3PXD2A_ENST00000355946.2_Silent_p.D255D|SH3PXD2A_ENST00000427662.2_Silent_p.D145D|SH3PXD2A_ENST00000538130.1_Silent_p.D118D|SH3PXD2A_ENST00000540321.1_Silent_p.D150D|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	283	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCCAATCTCGTCCTTGCTTT	0.527																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(847-849)gaC>gaT		SH3 and PX domains 2A							243.0	179.0	201.0					10																	105377025		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105377025G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.849C>T	10.37:g.105377025G>A						SH3PXD2A_ENST00000540321.1_Silent_p.D150D|SH3PXD2A_ENST00000427662.2_Silent_p.D145D|SH3PXD2A_ENST00000355946.2_Silent_p.D255D|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.D118D	p.D283D			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	11	1125	-		Colorectal(252;0.0815)|Breast(234;0.131)	283			SH3 2.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.849C>T		.	.	.	.	.	.	.	.	.	.	G	10.54	1.378966	0.24944	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.6	-1.97	0.07503	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-42.9892	8.2877	0.31939	0.4834:0.1036:0.413:0.0	.	.	.	.	X	210	.	.	R	-	1	2	SH3PXD2A	105367015	0.899000	0.30636	0.994000	0.49952	0.996000	0.88848	0.130000	0.15850	-0.158000	0.11040	0.561000	0.74099	CGA		0.527	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		6	46	0	0	0	1	0	6	46				
MXRA8	54587	broad.mit.edu	37	1	1289437	1289437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1289437G>A	ENST00000309212.6	-	8	1225	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	MXRA8_ENST00000342753.4_Missense_Mutation_p.L298F|MXRA8_ENST00000477278.2_Missense_Mutation_p.L390F|MXRA8_ENST00000445648.2_Missense_Mutation_p.L399F	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	399					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCCTGTAAAGCATCTGGTCC	0.642																																						ENST00000309212.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7						c.(1195-1197)Ctt>Ttt		matrix-remodelling associated 8							74.0	70.0	72.0					1																	1289437		2200	4297	6497	SO:0001583	missense	54587					integral to membrane		g.chr1:1289437G>A	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.1195C>T	1.37:g.1289437G>A	ENSP00000307887:p.Leu399Phe					MXRA8_ENST00000445648.2_Missense_Mutation_p.L399F|MXRA8_ENST00000342753.4_Missense_Mutation_p.L298F	p.L399F	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	1225	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	399					B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.1195C>T	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	5.492	0.275806	0.10403	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.14640	2.5;2.5;2.49	4.12	1.09	0.20402	.	1.365420	0.04805	U	0.434180	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	B;P;B;B	0.37864	0.001;0.61;0.001;0.001	B;B;B;B	0.29353	0.001;0.101;0.002;0.001	T	0.28202	-1.0051	10	0.35671	T	0.21	-26.4954	3.6896	0.08340	0.0923:0.1646:0.5727:0.1703	.	390;298;399;399	B3KTR6;B4DE34;Q9BRK3-2;Q9BRK3	.;.;.;MXRA8_HUMAN	F	399;390;298;399	ENSP00000307887:L399F;ENSP00000344998:L298F;ENSP00000399229:L399F	ENSP00000307887:L399F	L	-	1	0	MXRA8	1279300	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	1.159000	0.31749	-0.059000	0.13154	0.550000	0.68814	CTT		0.642	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		6	48	0	0	0	1	0	6	48				
MAST2	23139	broad.mit.edu	37	1	46295224	46295224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46295224C>T	ENST00000361297.2	+	3	722	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.Q147*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCCCTTGGACAGTCTGCACC	0.458																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(439-441)Cag>Tag		microtubule associated serine/threonine kinase 2							107.0	101.0	103.0					1																	46295224		1940	4150	6090	SO:0001587	stop_gained	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46295224C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.439C>T	1.37:g.46295224C>T	ENSP00000354671:p.Gln147*					MAST2_ENST00000372009.2_Nonsense_Mutation_p.Q147*	p.Q147*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			3	722	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		147						Nonsense_Mutation	SNP	ENST00000361297.2	37	c.439C>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	39	7.380792	0.98248	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	5.03	5.03	0.67393	.	0.339338	0.22613	N	0.057818	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-3.6986	18.3595	0.90370	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000354671:Q147X	Q	+	1	0	MAST2	46067811	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.172000	0.77604	2.345000	0.79718	0.650000	0.86243	CAG		0.458	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		6	56	0	0	0	1	0	6	56				
BOD1L1	259282	broad.mit.edu	37	4	13601606	13601606	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13601606A>G	ENST00000040738.5	-	10	7053	c.6918T>C	c.(6916-6918)atT>atC	p.I2306I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2306						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGACAGCACCAATCATGACTG	0.532																																						ENST00000040738.5																			0											c.(6916-6918)atT>atC		biorientation of chromosomes in cell division 1-like 1							77.0	62.0	67.0					4																	13601606		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601606A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6918T>C	4.37:g.13601606A>G							p.I2306I	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7053	-			2306					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.6918T>C	CCDS3411.2																																																																																				0.532	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	12	0	0	0	1	0	7	12				
MAU2	23383	broad.mit.edu	37	19	19466199	19466199	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19466199C>T	ENST00000392313.6	+	18	1945	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M	MAU2_ENST00000262815.8_Splice_Site_p.T589M	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	589					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AACCTCATCACGGTACGGGTG	0.582																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.e18+1		MAU2 sister chromatid cohesion factor							84.0	78.0	80.0					19																	19466199		2203	4300	6503	SO:0001630	splice_region_variant	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19466199C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1767+1C>T	19.37:g.19466199C>T						MAU2_ENST00000262815.8_Splice_Site_p.T589_splice	p.T589_splice	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			18	1812	+			589					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Splice_Site	SNP	ENST00000392313.6	37	c.1767_splice	CCDS32969.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.513677|2.513677	0.44763|0.44763	.|.	.|.	ENSG00000129933|ENSG00000129933	ENST00000262816;ENST00000499453|ENST00000392313;ENST00000262815	.|.	.|.	.|.	5.43|5.43	4.38|4.38	0.52667|0.52667	.|.	.|0.057022	.|0.64402	.|D	.|0.000001	T|T	0.32496|0.32496	0.0831|0.0831	N|N	0.03608|0.03608	-0.345|-0.345	0.53005|0.53005	D|D	0.999967|0.999967	.|D;P;B	.|0.57257	.|0.979;0.86;0.016	.|P;B;B	.|0.47744	.|0.556;0.432;0.004	T|T	0.41034|0.41034	-0.9531|-0.9531	6|9	0.87932|0.49607	D|T	0|0.09	.|.	14.8309|14.8309	0.70149|0.70149	0.0:0.8551:0.1449:0.0|0.0:0.8551:0.1449:0.0	.|.	.|165;194;589	.|Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.|.;.;SCC4_HUMAN	C|M	33|589	.|.	ENSP00000262816:R33C|ENSP00000262815:T589M	R|T	+|+	1|2	0|0	MAU2|MAU2	19327199|19327199	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.845000|0.845000	0.48019|0.48019	4.782000|4.782000	0.62396|0.62396	1.279000|1.279000	0.44446|0.44446	0.561000|0.561000	0.74099|0.74099	CGT|ACG		0.582	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	Missense_Mutation	27	46	0	0	0	1	0	27	46				
PBRM1	55193	broad.mit.edu	37	3	52598163	52598163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52598163G>A	ENST00000296302.7	-	23	3779	c.3778C>T	c.(3778-3780)Cgc>Tgc	p.R1260C	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1235C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R1228C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1260C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1275C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1275C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1260C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1235C			Q86U86	PB1_HUMAN	polybromo 1	1260	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATTGTAGCGGCTCTCACAA	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3682-3684)Cgc>Tgc		polybromo 1							105.0	104.0	104.0					3																	52598163		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598163G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3778C>T	3.37:g.52598163G>A	ENSP00000296302:p.Arg1260Cys					PBRM1_ENST00000394830.3_Missense_Mutation_p.R1235C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1260C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1275C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1260C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1275C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1260C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1235C|SMIM4_ENST00000476842.1_Intron	p.R1228C			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3684	-			1260			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3682C>T		.	.	.	.	.	.	.	.	.	.	G	29.2	4.988634	0.93106	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.05	5.05	0.67936	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.994;0.999;0.998;0.998;0.997	D	0.94652	0.7840	10	0.66056	D	0.02	-6.0466	18.4255	0.90607	0.0:0.0:1.0:0.0	.	1235;1235;1260;1275;1275;1260;1228;1260	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	C	1228;1235;1260;1260;1260;1235;1275;1275;1259	ENSP00000349213:R1228C;ENSP00000378307:R1235C;ENSP00000296302:R1260C;ENSP00000338302:R1260C;ENSP00000386593:R1260C;ENSP00000386529:R1235C;ENSP00000386643:R1275C;ENSP00000386601:R1275C;ENSP00000387775:R1259C	ENSP00000296302:R1260C	R	-	1	0	PBRM1	52573203	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.351000	0.79841	0.655000	0.94253	CGC		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		25	42	0	0	0	1	0	25	42				
TMEM119	338773	broad.mit.edu	37	12	108985995	108985995	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108985995C>T	ENST00000392806.3	-	2	333	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	55					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.P55P(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCAGGGTGGCGGGAGGCTCG	0.706																																						ENST00000392806.3																			1	Substitution - coding silent(1)	p.P55P(1)	large_intestine(1)	large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						c.(163-165)ccG>ccA		transmembrane protein 119							18.0	23.0	22.0					12																	108985995		2201	4293	6494	SO:0001819	synonymous_variant	338773					integral to membrane		g.chr12:108985995C>T	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.165G>A	12.37:g.108985995C>T							p.P55P	NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN			2	333	-			55					Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	c.165G>A	CCDS9119.1																																																																																				0.706	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		6	10	0	0	0	1	0	6	10				
SLC2A4RG	56731	broad.mit.edu	37	20	62374245	62374245	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374245G>A	ENST00000266077.2	+	8	1118	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCCCGCGGCGACGCGAAGAA	0.672																																						ENST00000266077.2																			0				NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7						c.(1066-1068)Gac>Aac		SLC2A4 regulator							27.0	34.0	32.0					20																	62374245		2198	4299	6497	SO:0001583	missense	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62374245G>A	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.1066G>A	20.37:g.62374245G>A	ENSP00000266077:p.Asp356Asn					SLC2A4RG_ENST00000493772.1_3'UTR	p.D356N	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN			8	1118	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		356					Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	37	c.1066G>A	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548603	0.65311	.	.	ENSG00000125520	ENST00000266077	T	0.36878	1.23	4.17	4.17	0.49024	.	0.107026	0.32624	U	0.005846	T	0.39172	0.1068	L	0.33137	0.985	0.39519	D	0.968489	D	0.60575	0.988	P	0.51385	0.668	T	0.45804	-0.9236	10	0.87932	D	0	-56.1473	15.0401	0.71785	0.0:0.0:1.0:0.0	.	356	Q9NR83	S2A4R_HUMAN	N	356	ENSP00000266077:D356N	ENSP00000266077:D356N	D	+	1	0	SLC2A4RG	61844689	1.000000	0.71417	0.090000	0.20809	0.019000	0.09904	8.982000	0.93471	1.871000	0.54225	0.313000	0.20887	GAC		0.672	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		4	11	0	0	0	1	0	4	11				
SIPA1L2	57568	broad.mit.edu	37	1	232649691	232649691	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232649691C>T	ENST00000366630.1	-	2	1753	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	SIPA1L2_ENST00000262861.4_Silent_p.Q465Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	465					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGTGAATAGGCTGGTTTTCTC	0.478																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1393-1395)caG>caA		signal-induced proliferation-associated 1 like 2							159.0	155.0	156.0					1																	232649691		1954	4145	6099	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649691C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1395G>A	1.37:g.232649691C>T						SIPA1L2_ENST00000262861.4_Silent_p.Q465Q	p.Q465Q			Q9P2F8	SI1L2_HUMAN			2	1753	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	465					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.1395G>A	CCDS41474.1																																																																																				0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		80	86	0	0	0	1	0	80	86				
DNMT3B	1789	broad.mit.edu	37	20	31395665	31395665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31395665C>T	ENST00000328111.2	+	23	2839	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	DNMT3B_ENST00000344505.4_Missense_Mutation_p.P780L|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R757*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R820*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R681*|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R832*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R715*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> Q (in ICF1; dbSNP:rs121908946). {ECO:0000269|PubMed:15580563}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTCATCCGACACCTCTT	0.602																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2518-2520)Cga>Tga		DNA (cytosine-5-)-methyltransferase 3 beta							139.0	127.0	131.0					20																	31395665		2203	4300	6503	SO:0001587	stop_gained	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31395665C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2518C>T	20.37:g.31395665C>T	ENSP00000328547:p.Arg840*					DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R681*|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R832*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R820*|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P780L|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R715*|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R757*	p.R840*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			23	2839	+			840		R -> Q (in ICF).			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Nonsense_Mutation	SNP	ENST00000328111.2	37	c.2518C>T	CCDS13205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.116046|8.116046	0.98662|0.98662	.|.	.|.	ENSG00000088305|ENSG00000088305	ENST00000344505|ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000201963	D|.	0.96774|.	-4.12|.	5.35|5.35	-2.25|-2.25	0.06888|0.06888	.|.	.|0.064013	.|0.64402	.|D	.|0.000007	T|.	0.40171|.	0.1106|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36311|.	-0.9753|.	6|.	0.87932|0.02654	D|T	0|1	-9.8178|-9.8178	17.2372|17.2372	0.87002|0.87002	0.7184:0.2816:0.0:0.0|0.7184:0.2816:0.0:0.0	.|.	.|.	.|.	.|.	L|X	780|840;820;757;715;681;832	ENSP00000345105:P780L|.	ENSP00000345105:P780L|ENSP00000201963:R832X	P|R	+|+	2|1	0|2	DNMT3B|DNMT3B	30859326|30859326	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.993000|0.993000	0.82548|0.82548	0.874000|0.874000	0.28065|0.28065	-0.415000|-0.415000	0.07484|0.07484	-0.169000|-0.169000	0.13324|0.13324	CCG|CGA		0.602	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		12	102	0	0	0	1	0	12	102				
CSMD2	114784	broad.mit.edu	37	1	34083159	34083159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34083159G>A	ENST00000373380.1	-	17	2725	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	CSMD2_ENST00000373381.4_Silent_p.G1962G|CSMD2_ENST00000373388.2_Silent_p.G61G|CSMD2_ENST00000373377.1_Silent_p.G61G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1922	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTAGCGCTCGCCAGTCTTCA	0.572																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5884-5886)ggC>ggT		CUB and Sushi multiple domains 2							108.0	83.0	92.0					1																	34083159		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34083159G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2505C>T	1.37:g.34083159G>A						CSMD2_ENST00000373380.1_Silent_p.G835G|CSMD2_ENST00000373377.1_Silent_p.G61G|CSMD2_ENST00000373388.2_Silent_p.G61G	p.G1962G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			38	6062	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1922			Sushi 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5886C>T																																																																																					0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		11	23	0	0	0	1	0	11	23				
THG1L	54974	broad.mit.edu	37	5	157161725	157161725	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161725G>T	ENST00000231198.7	+	3	754	c.510G>T	c.(508-510)aaG>aaT	p.K170N	AC026407.1_ENST00000599823.1_Silent_p.S1S	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	170					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACTTTAAAGGACTACCTCA	0.468																																						ENST00000231198.7																			0				NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13						c.(508-510)aaG>aaT		tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)							106.0	94.0	98.0					5																	157161725		2203	4300	6503	SO:0001583	missense	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157161725G>T	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.510G>T	5.37:g.157161725G>T	ENSP00000231198:p.Lys170Asn					AC026407.1_ENST00000599823.1_Silent_p.S1S	p.K170N	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	754	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	170					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	ENST00000231198.7	37	c.510G>T	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448627	0.84101	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	T	0.45276	0.9	5.95	5.08	0.68730	.	0.081458	0.85682	D	0.000000	T	0.61874	0.2382	M	0.83774	2.66	0.80722	D	1	P;D	0.59357	0.939;0.985	P;P	0.62885	0.908;0.858	T	0.62737	-0.6791	10	0.45353	T	0.12	-25.1914	10.7557	0.46234	0.1409:0.0:0.8591:0.0	.	38;170	B4E366;Q9NWX6	.;THG1_HUMAN	N	170;45	ENSP00000231198:K170N	ENSP00000231198:K170N	K	+	3	2	THG1L	157094303	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.109000	0.50345	2.819000	0.97034	0.650000	0.86243	AAG		0.468	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		17	33	1	0	0.000422831	1	0.000460248	17	33				
COL7A1	1294	broad.mit.edu	37	3	48609476	48609476	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48609476A>G	ENST00000328333.8	-	91	7133	c.7026T>C	c.(7024-7026)ggT>ggC	p.G2342G	COL7A1_ENST00000454817.1_Silent_p.G2310G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2342	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCAGCTTCACCCTGCACAG	0.662																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7024-7026)ggT>ggC		collagen, type VII, alpha 1							32.0	30.0	31.0					3																	48609476		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48609476A>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7026T>C	3.37:g.48609476A>G						COL7A1_ENST00000454817.1_Silent_p.G2310G	p.G2342G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	91	7133	-			2342			Triple-helical region.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.7026T>C	CCDS2773.1																																																																																				0.662	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	11	0	0	0	1	0	4	11				
GCM1	8521	broad.mit.edu	37	6	52993010	52993010	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993010C>T	ENST00000259803.7	-	6	1516	c.1305G>A	c.(1303-1305)ttG>ttA	p.L435L	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	435					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGGTCATCTCAAAGGACACA	0.418																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(1303-1305)ttG>ttA		glial cells missing homolog 1 (Drosophila)							127.0	131.0	130.0					6																	52993010		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993010C>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1305G>A	6.37:g.52993010C>T							p.L435L	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			6	1516	-	Lung NSC(77;0.0755)		435					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.1305G>A	CCDS4950.1																																																																																				0.418	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			83	123	0	0	0	1	0	83	123				
FOCAD	54914	broad.mit.edu	37	9	20862604	20862604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20862604G>A	ENST00000380249.1	+	18	2312	c.1948G>A	c.(1948-1950)Gct>Act	p.A650T	FOCAD_ENST00000338382.6_Missense_Mutation_p.A650T|FOCAD_ENST00000605086.1_Missense_Mutation_p.A86T	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	650						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CACTTGGAATGCTCTCTCTCC	0.403																																						ENST00000380249.1																			0											c.(1948-1950)Gct>Act		focadhesin							209.0	175.0	187.0					9																	20862604		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20862604G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1948G>A	9.37:g.20862604G>A	ENSP00000369599:p.Ala650Thr					FOCAD_ENST00000605086.1_Missense_Mutation_p.A86T|FOCAD_ENST00000338382.6_Missense_Mutation_p.A650T	p.A650T	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			18	2312	+			650					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1948G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170396	0.94768	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.24538	1.85;1.85	5.75	5.75	0.90469	Armadillo-type fold (1);Domain of unknown function DUF3730 (1);	0.211680	0.49916	D	0.000134	T	0.47116	0.1428	L	0.47716	1.5	0.58432	D	0.999999	D	0.71674	0.998	D	0.71870	0.975	T	0.32955	-0.9887	10	0.66056	D	0.02	-3.8893	19.9542	0.97213	0.0:0.0:1.0:0.0	.	650	Q5VW36	K1797_HUMAN	T	650	ENSP00000369599:A650T;ENSP00000344307:A650T	ENSP00000344307:A650T	A	+	1	0	KIAA1797	20852604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.649000	0.83500	2.728000	0.93425	0.650000	0.86243	GCT		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		10	118	0	0	0	1	0	10	118				
LHFPL1	340596	broad.mit.edu	37	X	111914520	111914520	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111914520G>T	ENST00000371968.3	-	2	338	c.99C>A	c.(97-99)ctC>ctA	p.L33L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L33L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	33						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGGATCCAAAGAGCCAGTAAG	0.547																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(97-99)ctC>ctA		lipoma HMGIC fusion partner-like 1							156.0	146.0	149.0					X																	111914520		2203	4300	6503	SO:0001819	synonymous_variant	340596					integral to membrane		g.chrX:111914520G>T	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.99C>A	X.37:g.111914520G>T						LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L33L	p.L33L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	338	-			33					A8K1N1|Q496M9|Q496N0|Q6UXU2	Silent	SNP	ENST00000371968.3	37	c.99C>A	CCDS14562.1																																																																																				0.547	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		14	202	1	0	1.36491e-13	1	1.73287e-13	14	202				
ADAMTSL1	92949	broad.mit.edu	37	9	18777746	18777746	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777746C>T	ENST00000380548.4	+	19	3858	c.3519C>T	c.(3517-3519)gcC>gcT	p.A1173A		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1173	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCAGCGGCCCAGCAGCTCT	0.687																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3517-3519)gcC>gcT		ADAMTS-like 1							23.0	28.0	26.0					9																	18777746		2146	4240	6386	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777746C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3519C>T	9.37:g.18777746C>T							p.A1173A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3858	+			1173			Ig-like C2-type 2.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.3519C>T	CCDS47954.1																																																																																				0.687	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			6	8	0	0	0	1	0	6	8				
HSPD1	3329	broad.mit.edu	37	2	198358920	198358920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198358920G>A	ENST00000388968.3	-	6	928	c.661C>T	c.(661-663)Cga>Tga	p.R221*	HSPD1_ENST00000345042.2_Nonsense_Mutation_p.R221*	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	221					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATATAGCCTCGATCAAACTTC	0.269																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(661-663)Cga>Tga		heat shock 60kDa protein 1 (chaperonin)							37.0	42.0	40.0					2																	198358920		2201	4294	6495	SO:0001587	stop_gained	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198358920G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.661C>T	2.37:g.198358920G>A	ENSP00000373620:p.Arg221*					HSPD1_ENST00000345042.2_Nonsense_Mutation_p.R221*	p.R221*	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		6	928	-			221					B2R5M6|B7Z712|Q38L19|Q9UCR6	Nonsense_Mutation	SNP	ENST00000388968.3	37	c.661C>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177918	0.78564	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745;ENST00000430176;ENST00000452200	.	.	.	5.31	1.82	0.25136	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6159	14.4712	0.67517	0.0:0.0:0.3988:0.6012	.	.	.	.	X	221;221;77;219;221	.	ENSP00000340019:R221X	R	-	1	2	HSPD1	198067165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.120000	0.41968	0.650000	0.30769	0.585000	0.79938	CGA		0.269	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		21	40	0	0	0	1	0	21	40				
TUBA4B	80086	broad.mit.edu	37	2	220136778	220136778	+	RNA	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220136778A>T	ENST00000490341.1	+	0	1248					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										AAGGCCCATGAGGATATGACT	0.537																																						ENST00000490341.1																			0																																																			0							g.chr2:220136778A>T	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136778A>T								NR_003063.1						0	1248	+									RNA	SNP	ENST00000490341.1	37																																																																																						0.537	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		3	7	0	0	0	1	0	3	7				
ZNF649	65251	broad.mit.edu	37	19	52394292	52394292	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394292C>A	ENST00000354957.3	-	5	1381	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R338I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGATATCTCTGATGTGC	0.453																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1096-1098)aGa>aTa		zinc finger protein 649							120.0	109.0	113.0					19																	52394292		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394292C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1097G>T	19.37:g.52394292C>A	ENSP00000347043:p.Arg366Ile					ZNF649_ENST00000600738.1_Missense_Mutation_p.R338I|CTC-429C10.2_ENST00000600329.1_RNA	p.R366I	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1381	-		all_neural(266;0.0602)	366					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1097G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866576	0.32977	.	.	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.63	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38852	0.1056	L	0.60012	1.86	0.33302	D	0.564973	D	0.76494	0.999	D	0.66196	0.942	T	0.51560	-0.8690	9	0.66056	D	0.02	.	6.062	0.19842	0.0:0.7308:0.0:0.2692	.	366	Q9BS31	ZN649_HUMAN	I	366	ENSP00000347043:R366I	ENSP00000347043:R366I	R	-	2	0	ZNF649	57086104	0.000000	0.05858	0.033000	0.17914	0.061000	0.15899	0.068000	0.14531	1.309000	0.44985	0.404000	0.27445	AGA		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		23	36	1	0	2.70639e-06	1	3.11222e-06	23	36				
EPB41L2	2037	broad.mit.edu	37	6	131225615	131225615	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131225615C>A	ENST00000337057.3	-	6	1100	c.919G>T	c.(919-921)Gat>Tat	p.D307Y	EPB41L2_ENST00000445890.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D307Y|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D307Y	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	307	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGGTGATATCTTCAGTCAAT	0.353																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(919-921)Gat>Tat		erythrocyte membrane protein band 4.1-like 2							90.0	92.0	91.0					6																	131225615		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131225615C>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.919G>T	6.37:g.131225615C>A	ENSP00000338481:p.Asp307Tyr					EPB41L2_ENST00000392427.3_Missense_Mutation_p.D307Y|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D307Y	p.D307Y	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	6	1100	-	Breast(56;0.0639)		307			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.919G>T	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783360	0.90282	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.73	5.73	0.89815	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.90920	0.7146	H	0.96970	3.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93246	0.6630	10	0.87932	D	0	.	19.9054	0.97006	0.0:1.0:0.0:0.0	.	307;307;307;307;307	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	Y	307	ENSP00000434308:D307Y;ENSP00000434576:D307Y;ENSP00000402041:D307Y;ENSP00000338481:D307Y;ENSP00000376222:D307Y;ENSP00000357110:D307Y;ENSP00000436348:D307Y;ENSP00000432803:D307Y;ENSP00000431988:D307Y;ENSP00000431647:D307Y;ENSP00000436641:D307Y	ENSP00000338481:D307Y	D	-	1	0	EPB41L2	131267308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.698000	0.92095	0.655000	0.94253	GAT		0.353	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			4	45	1	0	0.00024832	1	0.0002712	4	45				
MCCC2	64087	broad.mit.edu	37	5	70945895	70945895	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70945895G>T	ENST00000340941.6	+	15	1502		c.e15-1		MCCC2_ENST00000323375.8_Splice_Site	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)						biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TCTTCCCCCAGCCCAAGATTT	0.433																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.e15-1		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						85.0	90.0	88.0					5																	70945895		2203	4300	6503	SO:0001630	splice_region_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70945895G>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1374-1G>T	5.37:g.70945895G>T						MCCC2_ENST00000323375.8_Splice_Site		NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	15	1502	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)						A6NIY9|Q96C27|Q9Y4L7	Splice_Site	SNP	ENST00000340941.6	37		CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837347	0.71373	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8841	0.92368	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCCC2	70981651	1.000000	0.71417	0.997000	0.53966	0.649000	0.38597	9.837000	0.99465	2.763000	0.94921	0.655000	0.94253	.		0.433	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		Intron	14	22	1	0	0.000151284	1	0.000166931	14	22				
CLTA	1211	broad.mit.edu	37	9	36199092	36199092	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36199092T>C	ENST00000242285.6	+	3	492	c.372T>C	c.(370-372)ctT>ctC	p.L124L	CLTA_ENST00000470744.1_Splice_Site_p.L124L|CLTA_ENST00000396603.2_Splice_Site_p.L124L|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000538225.1_Splice_Site_p.L124L|CLTA_ENST00000345519.5_Splice_Site_p.L124L|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000433436.2_Splice_Site_p.L124L			P09496	CLCA_HUMAN	clathrin, light chain A	124	Involved in binding clathrin heavy chain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			TGGAAGCCCTTGGTAAGGAAT	0.423																																						ENST00000433436.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6						c.e3+1		clathrin, light chain A							201.0	189.0	193.0					9																	36199092		2203	4300	6503	SO:0001630	splice_region_variant	1211				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity	g.chr9:36199092T>C		CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"""clathrin, light polypeptide (Lca)"""			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.373+1T>C	9.37:g.36199092T>C						CLTA_ENST00000538225.1_Splice_Site_p.L124_splice|CLTA_ENST00000470744.1_Splice_Site_p.L124_splice|CLTA_ENST00000396603.2_Splice_Site_p.L124_splice|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000345519.5_Splice_Site_p.L124_splice|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000242285.6_Splice_Site_p.L124_splice	p.L124_splice	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	573	+			124			Involved in binding clathrin heavy chain.		A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Splice_Site	SNP	ENST00000242285.6	37	c.373_splice	CCDS6601.1																																																																																				0.423	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096	Silent	9	122	0	0	0	1	0	9	122				
SSX1	6756	broad.mit.edu	37	X	48125807	48125807	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48125807G>A	ENST00000376919.3	+	7	688	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GTGACCCTGAGGAAGATGACG	0.488			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(550-552)gaG>gaA		synovial sarcoma, X breakpoint 1							314.0	290.0	299.0					X																	48125807		1511	2708	4219	SO:0001819	synonymous_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48125807G>A	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.552G>A	X.37:g.48125807G>A							p.E184E	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			7	688	+			184					A3KN76|Q08AJ2|Q5JQ64	Silent	SNP	ENST00000376919.3	37	c.552G>A	CCDS14290.1																																																																																				0.488	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		120	267	0	0	0	1	0	120	267				
MAML3	55534	broad.mit.edu	37	4	140641269	140641269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641269G>A	ENST00000509479.2	-	5	3481	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCATGCCTGTGCTCATATTGT	0.582																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2623-2625)agC>agT		mastermind-like 3 (Drosophila)							309.0	316.0	313.0					4																	140641269		2136	4253	6389	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641269G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2625C>T	4.37:g.140641269G>A						MGST2_ENST00000515137.1_Intron	p.S875S	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3481	-	all_hematologic(180;0.162)		871			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.2625C>T	CCDS54805.1																																																																																				0.582	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			148	188	0	0	0	1	0	148	188				
PCDHB16	57717	broad.mit.edu	37	5	140562776	140562776	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562776G>A	ENST00000361016.2	+	1	1797	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGACAGCGCTGGATGGTG	0.502																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(640-642)gcG>gcA									64.0	65.0	65.0					5																	140562776		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562776G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.642G>A	5.37:g.140562776G>A							p.A214A	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1797	+			214			Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.642G>A	CCDS4251.1																																																																																				0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		24	38	0	0	0	1	0	24	38				
NFATC3	4775	broad.mit.edu	37	16	68156145	68156145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68156145G>A	ENST00000346183.3	+	2	383	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	NFATC3_ENST00000349223.5_Missense_Mutation_p.C120Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.C120Y|NFATC3_ENST00000575270.1_Missense_Mutation_p.C120Y|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	120					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTCCTAACTGTCATCAAGAA	0.398																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(358-360)tGt>tAt		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							80.0	77.0	78.0					16																	68156145		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156145G>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.359G>A	16.37:g.68156145G>A	ENSP00000300659:p.Cys120Tyr					NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.C120Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.C120Y|NFATC3_ENST00000575270.1_Missense_Mutation_p.C120Y|RP11-67A1.2_ENST00000548144.1_RNA	p.C120Y	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	583	+		Ovarian(137;0.0563)	120					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.359G>A	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611242	0.66558	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08984	3.03;3.04;3.04	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.998	D;D;D;D	0.79784	0.993;0.982;0.993;0.993	T	0.07578	-1.0765	10	0.02654	T	1	-8.4674	19.561	0.95373	0.0:0.0:1.0:0.0	.	120;120;120;120	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	120	ENSP00000264008:C120Y;ENSP00000300659:C120Y;ENSP00000331324:C120Y	ENSP00000331324:C120Y	C	+	2	0	NFATC3	66713646	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.447000	0.80620	2.700000	0.92200	0.467000	0.42956	TGT		0.398	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		35	67	0	0	0	1	0	35	67				
OR2A2	442361	broad.mit.edu	37	7	143807592	143807592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143807592G>A	ENST00000408979.2	+	1	986	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACTCCAGAGGAAGAGGTCC	0.438																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(916-918)aGg>aAg		olfactory receptor, family 2, subfamily A, member 2							91.0	87.0	88.0					7																	143807592		1900	4126	6026	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807592G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.917G>A	7.37:g.143807592G>A	ENSP00000386209:p.Arg306Lys						p.R306K	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	986	+	Melanoma(164;0.0783)		306					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.917G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338130	0.01287	.	.	ENSG00000221989	ENST00000408979	T	0.37411	1.2	3.47	-1.49	0.08718	.	0.225615	0.22188	N	0.063416	T	0.12732	0.0309	N	0.11673	0.155	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33240	-0.9876	10	0.02654	T	1	.	6.8796	0.24166	0.5182:0.0:0.4818:0.0	.	306	Q6IF42	OR2A2_HUMAN	K	306	ENSP00000386209:R306K	ENSP00000386209:R306K	R	+	2	0	OR2A2	143438525	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.780000	0.04654	-0.388000	0.07797	-0.424000	0.05967	AGG		0.438	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			92	76	0	0	0	1	0	92	76				
SLIT2	9353	broad.mit.edu	37	4	20512133	20512133	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20512133C>T	ENST00000504154.1	+	10	1182	c.930C>T	c.(928-930)aaC>aaT	p.N310N	SLIT2_ENST00000503837.1_Silent_p.N314N|SLIT2_ENST00000273739.5_Silent_p.N314N|SLIT2_ENST00000503823.1_Silent_p.N310N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	310					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAACAGAACACAATCAAAG	0.323																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(928-930)aaC>aaT		slit homolog 2 (Drosophila)							104.0	113.0	110.0					4																	20512133		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20512133C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.930C>T	4.37:g.20512133C>T						SLIT2_ENST00000273739.5_Silent_p.N314N|SLIT2_ENST00000503837.1_Silent_p.N314N|SLIT2_ENST00000503823.1_Silent_p.N310N	p.N310N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			10	1182	+			310					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.930C>T	CCDS3426.1																																																																																				0.323	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			8	78	0	0	0	1	0	8	78				
RSC1A1	6248	broad.mit.edu	37	1	15987550	15987550	+	Missense_Mutation	SNP	C	C	T	rs144434741		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15987550C>T	ENST00000345034.1	+	1	1187	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	396					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGACCTTTCTGAAAGATGG	0.398																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1186-1188)tCt>tTt		regulatory solute carrier protein, family 1, member 1		C	PHE/SER,	1,4405	2.1+/-5.4	0,1,2202	60.0	59.0	59.0		1187,	5.6	1.0	1	dbSNP_134	59	0,8600		0,0,4300	no	missense,utr-3	RSC1A1,DDI2	NM_006511.1,NM_032341.4	155,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	396/618,	15987550	1,13005	2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987550C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1187C>T	1.37:g.15987550C>T	ENSP00000341963:p.Ser396Phe					DDI2_ENST00000480945.1_3'UTR	p.S396F	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1187	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	396					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1187C>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674175	0.67928	2.27E-4	0.0	ENSG00000215695	ENST00000345034	T	0.32515	1.45	5.61	5.61	0.85477	.	0.333306	0.23598	N	0.046478	T	0.44623	0.1302	L	0.32530	0.975	0.37572	D	0.919489	D	0.76494	0.999	D	0.65874	0.939	T	0.47799	-0.9089	10	0.72032	D	0.01	-4.9542	16.384	0.83495	0.0:1.0:0.0:0.0	.	396	Q92681	RSCA1_HUMAN	F	396	ENSP00000341963:S396F	ENSP00000341963:S396F	S	+	2	0	RSC1A1	15860137	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.273000	0.51623	2.646000	0.89796	0.563000	0.77884	TCT		0.398	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		28	31	0	0	0	1	0	28	31				
MCM6	4175	broad.mit.edu	37	2	136626210	136626210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136626210T>C	ENST00000264156.2	-	4	646	c.586A>G	c.(586-588)Aat>Gat	p.N196D		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	196					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTTGATTTATTTGTATCCAGT	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(586-588)Aat>Gat		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						100.0	105.0	103.0					2																	136626210		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136626210T>C		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.586A>G	2.37:g.136626210T>C	ENSP00000264156:p.Asn196Asp						p.N196D	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	4	646	-			196					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.586A>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	T	7.146	0.582774	0.13749	.	.	ENSG00000076003	ENST00000264156	T	0.04015	3.73	5.82	5.82	0.92795	Nucleic acid-binding, OB-fold-like (1);	0.040866	0.85682	D	0.000000	T	0.03739	0.0106	N	0.20304	0.555	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.21348	-1.0248	10	0.02654	T	1	-24.4761	16.1986	0.82053	0.0:0.0:0.0:1.0	.	196	Q14566	MCM6_HUMAN	D	196	ENSP00000264156:N196D	ENSP00000264156:N196D	N	-	1	0	MCM6	136342680	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.262000	0.72514	2.227000	0.72691	0.455000	0.32223	AAT		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		10	77	0	0	0	1	0	10	77				
LOC653786	653786	broad.mit.edu	37	16	22588019	22588019	+	RNA	SNP	C	C	T	rs201955506	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22588019C>T	ENST00000550753.1	+	0	2494					NR_003676.2																						CTGAGCACATCGTCCTGTGTT	0.572													C|||	22	0.00439297	0.0	0.0058	5008	,	,		24984	0.0		0.005	False		,,,				2504	0.0133					ENST00000550753.1																			0																																																			0							g.chr16:22588019C>T																													16.37:g.22588019C>T								NR_003676.2						0	2494	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.572	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			24	66	0	0	0	1	0	24	66				
OR6B1	135946	broad.mit.edu	37	7	143701154	143701154	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143701154G>T	ENST00000408922.2	+	1	133	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGGAGCTTGAGTATGCGGGCA	0.502																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(64-66)aGt>aTt		olfactory receptor, family 6, subfamily B, member 1							111.0	104.0	106.0					7																	143701154		1969	4175	6144	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701154G>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.65G>T	7.37:g.143701154G>T	ENSP00000386151:p.Ser22Ile						p.S22I	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	133	+	Melanoma(164;0.0783)		22					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.65G>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096987	0.07010	.	.	ENSG00000221813	ENST00000408922	T	0.00444	7.4	5.37	2.43	0.29744	.	0.943966	0.08636	U	0.916339	T	0.00328	0.0010	L	0.28400	0.85	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.39440	-0.9614	10	0.44086	T	0.13	.	9.0229	0.36211	0.0812:0.4677:0.4511:0.0	.	22	O95007	OR6B1_HUMAN	I	22	ENSP00000386151:S22I	ENSP00000386151:S22I	S	+	2	0	OR6B1	143332087	0.000000	0.05858	0.001000	0.08648	0.269000	0.26545	0.370000	0.20433	0.804000	0.34136	0.557000	0.71058	AGT		0.502	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			5	72	1	0	1.23904e-05	1	1.39987e-05	5	72				
FAT1	2195	broad.mit.edu	37	4	187531103	187531103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187531103G>A	ENST00000441802.2	-	15	10129	c.9920C>T	c.(9919-9921)gCc>gTc	p.A3307V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3307	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCAGTGGCCTCTACTGT	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9919-9921)gCc>gTc		FAT atypical cadherin 1							93.0	95.0	95.0					4																	187531103		1988	4168	6156	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187531103G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9920C>T	4.37:g.187531103G>A	ENSP00000406229:p.Ala3307Val	HNSCC(5;0.00058)					p.A3307V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			15	10129	-			3307			Cadherin 30.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9920C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044159	0.75732	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52295	0.67	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59984	-0.7351	10	0.33940	T	0.23	.	18.9748	0.92731	0.0:0.0:1.0:0.0	.	3307	Q14517	FAT1_HUMAN	V	3307;3309	ENSP00000406229:A3307V	ENSP00000260147:A3309V	A	-	2	0	FAT1	187768097	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	7.739000	0.84976	2.721000	0.93114	0.650000	0.86243	GCC		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	14	0	0	0	1	0	8	14				
CCDC129	223075	broad.mit.edu	37	7	31682533	31682533	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682533C>A	ENST00000407970.3	+	11	1587	c.1549C>A	c.(1549-1551)Ctg>Atg	p.L517M	CCDC129_ENST00000319386.3_Missense_Mutation_p.L369M|CCDC129_ENST00000409210.1_Missense_Mutation_p.L425M|CCDC129_ENST00000451887.2_Missense_Mutation_p.L543M	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	517										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCACCAGAGCTGTATATCCC	0.542																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1105-1107)Ctg>Atg		coiled-coil domain containing 129							109.0	108.0	108.0					7																	31682533		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682533C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1549C>A	7.37:g.31682533C>A	ENSP00000384416:p.Leu517Met					CCDC129_ENST00000451887.2_Missense_Mutation_p.L543M|CCDC129_ENST00000407970.3_Missense_Mutation_p.L517M|CCDC129_ENST00000409210.1_Missense_Mutation_p.L425M	p.L369M			Q6ZRS4	CC129_HUMAN			11	2098	+			517					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1105C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120289	0.37436	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20200	2.09;2.35;2.35;2.09	5.86	3.01	0.34805	.	1.653360	0.03296	N	0.188282	T	0.35711	0.0941	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.59357	0.967;0.985;0.985;0.967	P;P;P;P	0.62740	0.693;0.906;0.847;0.562	T	0.05115	-1.0905	10	0.33141	T	0.24	-15.3382	4.5719	0.12214	0.1626:0.6082:0.1467:0.0826	.	543;527;517;369	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	M	369;517;543;527;425	ENSP00000313062:L369M;ENSP00000384416:L517M;ENSP00000395835:L543M;ENSP00000387214:L425M	ENSP00000313062:L369M	L	+	1	2	CCDC129	31649058	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.015000	0.13355	0.353000	0.24079	-0.229000	0.12294	CTG		0.542	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		100	70	1	0	4.91162e-27	1	6.54906e-27	100	70				
HEATR9	256957	broad.mit.edu	37	17	34190004	34190004	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34190004C>A	ENST00000311880.2	-	8	899	c.751G>T	c.(751-753)Gac>Tac	p.D251Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.D211Y|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		251					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATCACCTTGTCTTTAGAGACA	0.483																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(751-753)Gac>Tac		chromosome 17 open reading frame 66							139.0	132.0	135.0					17																	34190004		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34190004C>A																												ENST00000311880.2:c.751G>T	17.37:g.34190004C>A	ENSP00000309560:p.Asp251Tyr					C17orf66_ENST00000592980.1_Missense_Mutation_p.D211Y	p.D251Y	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	8	899	-		Ovarian(249;0.17)	251					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.751G>T	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078021	0.55753	.	.	ENSG00000172653	ENST00000311880	T	0.52526	0.66	5.17	0.778	0.18543	Armadillo-like helical (1);Armadillo-type fold (1);	0.536026	0.17193	N	0.183410	T	0.43875	0.1267	L	0.29908	0.895	0.28781	N	0.899829	D;D;D	0.76494	0.999;0.994;0.998	D;P;P	0.63192	0.912;0.878;0.888	T	0.29212	-1.0019	10	0.27082	T	0.32	.	3.7962	0.08740	0.0:0.5082:0.184:0.3078	.	217;211;251	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	Y	251	ENSP00000309560:D251Y	ENSP00000309560:D251Y	D	-	1	0	C17orf66	31214117	0.996000	0.38824	1.000000	0.80357	0.931000	0.56810	0.385000	0.20685	0.729000	0.32403	0.655000	0.94253	GAC		0.483	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			35	45	1	0	5.59293e-11	1	6.93756e-11	35	45				
MTA3	57504	broad.mit.edu	37	2	42936207	42936207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42936207C>A	ENST00000405094.1	+	14	1496	c.1496C>A	c.(1495-1497)gCt>gAt	p.A499D	MTA3_ENST00000406652.1_Missense_Mutation_p.A442D|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Missense_Mutation_p.A498D|MTA3_ENST00000407270.3_Missense_Mutation_p.A499D|MTA3_ENST00000405592.1_Missense_Mutation_p.A442D			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	499						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CCGTTTGTTGCTATTAATTAT	0.408																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(1324-1326)gCt>gAt		metastasis associated 1 family, member 3							57.0	56.0	56.0					2																	42936207		1832	4084	5916	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42936207C>A	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1496C>A	2.37:g.42936207C>A	ENSP00000385823:p.Ala499Asp					MTA3_ENST00000407270.3_Missense_Mutation_p.A499D|MTA3_ENST00000406652.1_Missense_Mutation_p.A442D|MTA3_ENST00000405094.1_Missense_Mutation_p.A499D|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Missense_Mutation_p.A498D	p.A442D			Q9BTC8	MTA3_HUMAN			15	1995	+			499					Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.1325C>A		.	.	.	.	.	.	.	.	.	.	C	19.07	3.756607	0.69648	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.48522	0.81;0.81;0.82;0.82;0.82	5.71	5.71	0.89125	.	0.054763	0.85682	D	0.000000	T	0.40694	0.1127	L	0.32530	0.975	0.46260	D	0.998954	B;B;B	0.28512	0.061;0.214;0.02	B;B;B	0.30782	0.039;0.12;0.075	T	0.34875	-0.9811	10	0.72032	D	0.01	-10.159	14.0584	0.64784	0.0:0.9284:0.0:0.0716	.	498;499;442	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	D	442;442;499;499;498;499	ENSP00000383973:A442D;ENSP00000384249:A442D;ENSP00000385045:A499D;ENSP00000385241:A498D;ENSP00000385823:A499D	ENSP00000282366:A499D	A	+	2	0	MTA3	42789711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.869000	0.69613	2.687000	0.91594	0.655000	0.94253	GCT		0.408	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		4	6	1	0	1.23904e-05	1	1.39987e-05	4	6				
FICD	11153	broad.mit.edu	37	12	108910886	108910886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108910886C>T	ENST00000552695.1	+	2	372	c.137C>T	c.(136-138)gCt>gTt	p.A46V	FICD_ENST00000361549.2_Missense_Mutation_p.A46V|FICD_ENST00000552758.1_Missense_Mutation_p.A46V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	46					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCGCTGGGGGCTGTGGAGGAG	0.657																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(136-138)gCt>gTt		FIC domain containing							52.0	43.0	46.0					12																	108910886		2203	4300	6503	SO:0001583	missense	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108910886C>T	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.137C>T	12.37:g.108910886C>T	ENSP00000446479:p.Ala46Val					FICD_ENST00000552758.1_Missense_Mutation_p.A46V|FICD_ENST00000361549.2_Missense_Mutation_p.A46V	p.A46V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			2	372	+			46					O75406	Missense_Mutation	SNP	ENST00000552695.1	37	c.137C>T	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921858	0.33908	.	.	ENSG00000198855	ENST00000552695;ENST00000552758;ENST00000361549	.	.	.	5.21	3.23	0.37069	.	0.366959	0.32624	N	0.005850	T	0.25494	0.0620	N	0.16478	0.41	0.20764	N	0.99985	B	0.02656	0.0	B	0.04013	0.001	T	0.18999	-1.0319	9	0.52906	T	0.07	-2.1698	9.1645	0.37043	0.0:0.7754:0.1454:0.0793	.	46	Q9BVA6	FICD_HUMAN	V	46	.	ENSP00000354421:A46V	A	+	2	0	FICD	107435016	0.041000	0.20044	0.106000	0.21319	0.338000	0.28826	2.755000	0.47540	1.148000	0.42385	0.561000	0.74099	GCT		0.657	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		13	17	0	0	0	1	0	13	17				
OR52B2	255725	broad.mit.edu	37	11	6190908	6190908	+	Missense_Mutation	SNP	C	C	T	rs569584182		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190908C>T	ENST00000530810.1	-	1	730	c.649G>A	c.(649-651)Gct>Act	p.A217T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGACACAGCGATGAGGATA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		22974	0.0		0.001	False		,,,				2504	0.0				NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(649-651)Gct>Act		olfactory receptor, family 52, subfamily B, member 2							61.0	61.0	61.0					11																	6190908		2094	4224	6318	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190908C>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.649G>A	11.37:g.6190908C>T	ENSP00000432011:p.Ala217Thr					RP11-290F24.3_ENST00000529961.1_RNA	p.A217T	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	730	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	217					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.649G>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559694	0.27827	.	.	ENSG00000255307	ENST00000530810	T	0.00123	8.7	5.32	-0.925	0.10458	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.39397	1.21	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.04825	-1.0924	9	0.31617	T	0.26	.	5.5263	0.16960	0.1233:0.5375:0.0:0.3392	.	217	Q96RD2	O52B2_HUMAN	T	217	ENSP00000432011:A217T	ENSP00000432011:A217T	A	-	1	0	OR52B2	6147484	0.000000	0.05858	0.012000	0.15200	0.923000	0.55619	-2.713000	0.00816	-0.329000	0.08527	-0.262000	0.10625	GCT		0.512	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		20	22	0	0	0	1	0	20	22				
KCTD21	283219	broad.mit.edu	37	11	77885145	77885145	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885145G>T	ENST00000340067.3	-	2	734	c.456C>A	c.(454-456)tcC>tcA	p.S152S	KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	152				S -> P (in Ref. 1; BAG62072). {ECO:0000305}.	protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGAAGAGGCAGGAGGTGCTGA	0.567																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(454-456)tcC>tcA		potassium channel tetramerization domain containing 21							138.0	122.0	127.0					11																	77885145		2200	4292	6492	SO:0001819	synonymous_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885145G>T	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.456C>A	11.37:g.77885145G>T						KCTD21-AS1_ENST00000600795.1_RNA	p.S152S	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	734	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		152					B4DTR0	Silent	SNP	ENST00000340067.3	37	c.456C>A	CCDS31645.1																																																																																				0.567	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		8	80	1	0	0.0381472	1	0.0390147	8	80				
GNRHR	2798	broad.mit.edu	37	4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	rs150422225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68619905G>A	ENST00000226413.4	-	1	173	c.149C>T	c.(148-150)gCg>gTg	p.A50V	UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	50					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(148-150)gCg>gTg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	79.0	84.0	82.0		149,149	5.3	0.4	4	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNRHR	NM_000406.2,NM_001012763.1	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	50/329,50/250	68619905	1,13005	2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619905G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.149C>T	4.37:g.68619905G>A	ENSP00000226413:p.Ala50Val					GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA	p.A50V	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	173	-			50					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.149C>T	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901562	0.17760	0.0	1.16E-4	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.32272	1.46;1.46	6.17	5.34	0.76211	.	0.084539	0.51477	D	0.000085	T	0.16811	0.0404	N	0.08118	0	0.30657	N	0.754812	B;B	0.18610	0.014;0.029	B;B	0.14023	0.004;0.01	T	0.09640	-1.0665	10	0.23891	T	0.37	-10.6622	13.3312	0.60488	0.0754:0.0:0.9246:0.0	.	50;50	P30968;P30968-2	GNRHR_HUMAN;.	V	50	ENSP00000226413:A50V;ENSP00000397561:A50V	ENSP00000226413:A50V	A	-	2	0	GNRHR	68302500	0.999000	0.42202	0.402000	0.26371	0.058000	0.15608	6.949000	0.75971	1.635000	0.50512	0.655000	0.94253	GCG		0.443	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			33	51	0	0	0	1	0	33	51				
MYO1G	64005	broad.mit.edu	37	7	45005867	45005867	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45005867G>T	ENST00000258787.7	-	16	2098	c.1962C>A	c.(1960-1962)acC>acA	p.T654T		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	654	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTATTCACAGGTCATCTTGT	0.657																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1960-1962)acC>acA		myosin IG							34.0	29.0	31.0					7																	45005867		2201	4300	6501	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45005867G>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1962C>A	7.37:g.45005867G>T							p.T654T	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			16	2098	-			654			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.1962C>A	CCDS34629.1																																																																																				0.657	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			5	23	1	0	5.9392e-07	1	6.91975e-07	5	23				
TBC1D3P5	440419	broad.mit.edu	37	17	25753542	25753542	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25753542G>T	ENST00000586223.1	+	0	1552					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		AAGGGGAACAGATGTTGATGC	0.572																																						ENST00000586223.1																			0																																																			0							g.chr17:25753542G>T			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25753542G>T								NR_033892.1						0	1552	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.572	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		5	42	1	0	0.00116845	1	0.00124821	5	42				
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(742-744)Gcc>Acc		keratin 33A							65.0	59.0	61.0					17																	39503321		2203	4296	6499	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503321C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.742G>A	17.37:g.39503321C>T	ENSP00000007735:p.Ala248Thr						p.A248T	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			4	786	-		Breast(137;0.000496)	248			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.742G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	KRT33A	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		16	20	0	0	0	1	0	16	20				
HNRNPUL1	11100	broad.mit.edu	37	19	41787069	41787069	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41787069C>T	ENST00000392006.3	+	7	1061	c.888C>T	c.(886-888)ggC>ggT	p.G296G	HNRNPUL1_ENST00000263367.3_Splice_Site_p.G207G|HNRNPUL1_ENST00000593587.1_Splice_Site_p.G196G|HNRNPUL1_ENST00000352456.3_Splice_Site_p.G196G|HNRNPUL1_ENST00000602130.1_Splice_Site_p.G296G|HNRNPUL1_ENST00000595018.1_Splice_Site_p.G196G|HNRNPUL1_ENST00000378215.4_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	296	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCCGTCAGGCGAAGAGCCTT	0.438																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.e7-1		heterogeneous nuclear ribonucleoprotein U-like 1							83.0	68.0	73.0					19																	41787069		2203	4300	6503	SO:0001630	splice_region_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41787069C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.887-1C>T	19.37:g.41787069C>T						HNRNPUL1_ENST00000263367.3_Splice_Site_p.G207_splice|HNRNPUL1_ENST00000595018.1_Splice_Site_p.G196_splice|HNRNPUL1_ENST00000602130.1_Splice_Site_p.G296_splice|HNRNPUL1_ENST00000352456.3_Splice_Site_p.G196_splice|HNRNPUL1_ENST00000593587.1_Splice_Site_p.G196_splice|HNRNPUL1_ENST00000378215.4_Intron	p.G296_splice	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			7	1061	+			296			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Splice_Site	SNP	ENST00000392006.3	37	c.886_splice	CCDS12576.1																																																																																				0.438	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040	Silent	24	21	0	0	0	1	0	24	21				
HYDIN	54768	broad.mit.edu	37	16	71061529	71061529	+	Silent	SNP	G	G	A	rs141223232	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71061529G>A	ENST00000393567.2	-	20	3168	c.3018C>T	c.(3016-3018)ctC>ctT	p.L1006L	HYDIN_ENST00000448691.1_Silent_p.L1006L|HYDIN_ENST00000448089.2_Silent_p.L1006L|HYDIN_ENST00000321489.5_Silent_p.L1006L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1006					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AATAGCCTTCGAGTATCACAT	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19608	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3016-3018)ctC>ctT		HYDIN, axonemal central pair apparatus protein		G	,	7,4377		0,7,2185	27.0	28.0	28.0		3018,3018	-9.7	0.0	16	dbSNP_134	28	2,8592		0,2,4295	no	coding-synonymous,coding-synonymous	HYDIN	NM_017558.3,NM_032821.2	,	0,9,6480	AA,AG,GG		0.0233,0.1597,0.0693	,	1006/1018,1006/5121	71061529	9,12969	2192	4297	6489	SO:0001819	synonymous_variant	54768							g.chr16:71061529G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3018C>T	16.37:g.71061529G>A						HYDIN_ENST00000448691.1_Silent_p.L1006L|HYDIN_ENST00000321489.5_Silent_p.L1006L|HYDIN_ENST00000448089.2_Silent_p.L1006L	p.L1006L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			20	3168	-		Ovarian(137;0.0654)	1006					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.3018C>T	CCDS59269.1																																																																																				0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			8	16	0	0	0	1	0	8	16				
PRPH	5630	broad.mit.edu	37	12	49691175	49691175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49691175G>T	ENST00000257860.4	+	6	2531	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0	Interaction with MREG. {ECO:0000250}.				cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGAGCTGGAGGAGCAGTTCG	0.672											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257860.4																			0				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(1030-1032)gaG>gaT		peripherin							16.0	19.0	18.0					12																	49691175		2199	4295	6494	SO:0001583	missense	5630						structural molecule activity	g.chr12:49691175G>T		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1032G>T	12.37:g.49691175G>T	ENSP00000257860:p.Glu344Asp		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RP11-161H23.9_ENST00000553259.1_RNA	p.E344D	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN			6	2531	+			344			Coil 2.|Rod.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.1032G>T	CCDS8783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.164381|5.164381	0.94727|0.94727	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000257860|ENST00000532332	D|.	0.91894|.	-2.93|.	5.48|5.48	2.6|2.6	0.31112|0.31112	Filament (1);|.	0.000000|.	0.40144|.	N|.	0.001172|.	T|.	0.80644|.	0.4662|.	M|M	0.93898|0.93898	3.47|3.47	0.48087|0.48087	D|D	0.999581|0.999581	P|.	0.45531|.	0.86|.	P|.	0.51999|.	0.687|.	T|.	0.83265|.	-0.0046|.	10|.	0.87932|.	D|.	0|.	.|.	10.8263|10.8263	0.46633|0.46633	0.2199:0.0:0.7801:0.0|0.2199:0.0:0.7801:0.0	.|.	344|.	P41219|.	PERI_HUMAN|.	D|X	344|73	ENSP00000257860:E344D|.	ENSP00000257860:E344D|.	E|G	+|+	3|1	2|0	PRPH|PRPH	47977442|47977442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.813000|3.813000	0.55636|0.55636	0.652000|0.652000	0.30806|0.30806	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.672	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		7	11	1	0	2.0095e-06	1	2.31757e-06	7	11				
MAN2A1	4124	broad.mit.edu	37	5	109117137	109117137	+	Missense_Mutation	SNP	A	A	G	rs562237822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109117137A>G	ENST00000261483.4	+	9	2467	c.1415A>G	c.(1414-1416)gAt>gGt	p.D472G		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	472					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATGCGCTGGATAAAGCAGAT	0.333													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16407	0.0		0.0	False		,,,				2504	0.0					ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1414-1416)gAt>gGt		mannosidase, alpha, class 2A, member 1							100.0	97.0	98.0					5																	109117137		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109117137A>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1415A>G	5.37:g.109117137A>G	ENSP00000261483:p.Asp472Gly						p.D472G	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	9	2467	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	472					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1415A>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.073921	0.36566	.	.	ENSG00000112893	ENST00000261483	T	0.73897	-0.79	5.91	3.39	0.38822	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.505078	0.23768	N	0.044754	T	0.62344	0.2420	L	0.45137	1.4	0.28198	N	0.927481	B	0.23249	0.082	B	0.33121	0.158	T	0.48833	-0.9000	10	0.17832	T	0.49	-10.5818	3.291	0.06949	0.4329:0.0:0.3864:0.1807	.	472	Q16706	MA2A1_HUMAN	G	472	ENSP00000261483:D472G	ENSP00000261483:D472G	D	+	2	0	MAN2A1	109145036	0.999000	0.42202	0.883000	0.34634	0.937000	0.57800	1.579000	0.36536	0.930000	0.37217	0.528000	0.53228	GAT		0.333	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			5	49	0	0	0	1	0	5	49				
XDH	7498	broad.mit.edu	37	2	31602786	31602786	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31602786G>T	ENST00000379416.3	-	13	1237	c.1189C>A	c.(1189-1191)Ctg>Atg	p.L397M		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	397	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGGCTCAGCAGGGTCTTTCTG	0.527																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1189-1191)Ctg>Atg		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						111.0	109.0	110.0					2																	31602786		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31602786G>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1189C>A	2.37:g.31602786G>T	ENSP00000368727:p.Leu397Met						p.L397M	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			13	1237	-	Acute lymphoblastic leukemia(172;0.155)		397			FAD-binding PCMH-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1189C>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743107	0.69418	.	.	ENSG00000158125	ENST00000379416	T	0.22336	1.96	6.1	5.17	0.71159	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.503802	0.20858	N	0.084408	T	0.34919	0.0914	L	0.52573	1.65	0.32277	N	0.568133	P	0.49307	0.922	P	0.58721	0.844	T	0.23226	-1.0194	10	0.45353	T	0.12	.	12.5262	0.56087	0.0:0.0:0.6959:0.3041	.	397	P47989	XDH_HUMAN	M	397	ENSP00000368727:L397M	ENSP00000368727:L397M	L	-	1	2	XDH	31456290	0.003000	0.15002	1.000000	0.80357	0.998000	0.95712	0.491000	0.22419	2.902000	0.99343	0.650000	0.86243	CTG		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		36	67	1	0	8.01111e-26	1	1.06612e-25	36	67				
GPATCH2	55105	broad.mit.edu	37	1	217793349	217793349	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217793349C>T	ENST00000366935.3	-	2	659	c.549G>A	c.(547-549)caG>caA	p.Q183Q	GPATCH2_ENST00000366934.3_Silent_p.Q183Q	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	183					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTCAGGTGGCTGGGTCATTG	0.433																																						ENST00000366935.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(547-549)caG>caA		G patch domain containing 2							221.0	204.0	210.0					1																	217793349		2203	4300	6503	SO:0001819	synonymous_variant	55105					intracellular	nucleic acid binding	g.chr1:217793349C>T	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.549G>A	1.37:g.217793349C>T						GPATCH2_ENST00000366934.3_Silent_p.Q183Q	p.Q183Q	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	2	659	-			183					Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	ENST00000366935.3	37	c.549G>A	CCDS1518.1																																																																																				0.433	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		75	71	0	0	0	1	0	75	71				
R3HDM1	23518	broad.mit.edu	37	2	136409340	136409340	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136409340C>A	ENST00000264160.4	+	17	2031	c.1661C>A	c.(1660-1662)gCt>gAt	p.A554D	R3HDM1_ENST00000329971.3_Missense_Mutation_p.A425D|R3HDM1_ENST00000410054.1_Missense_Mutation_p.A499D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.A426D|R3HDM1_ENST00000409606.1_Missense_Mutation_p.A555D	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	554							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATGAGTCTTGCTCGCCAGCCA	0.458																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1660-1662)gCt>gAt		R3H domain containing 1							194.0	177.0	183.0					2																	136409340		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136409340C>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1661C>A	2.37:g.136409340C>A	ENSP00000264160:p.Ala554Asp					R3HDM1_ENST00000410054.1_Missense_Mutation_p.A499D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.A425D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.A426D|R3HDM1_ENST00000409606.1_Missense_Mutation_p.A555D	p.A554D	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2031	+			554					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1661C>A	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.58|16.58	3.163454|3.163454	0.57476|0.57476	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000441871;ENST00000429703;ENST00000425804	T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74|.	5.68|5.68	2.33|2.33	0.28932|0.28932	.|.	0.390934|.	0.28021|.	N|.	0.016920|.	T|.	0.61476|.	0.2350|.	L|L	0.57536|0.57536	1.79|1.79	0.36658|0.36658	D|D	0.877796|0.877796	D;P;P;P|.	0.62365|.	0.991;0.846;0.931;0.883|.	P;B;B;B|.	0.55345|.	0.774;0.235;0.274;0.274|.	T|.	0.64580|.	-0.6374|.	10|.	0.51188|.	T|.	0.08|.	-0.7736|-0.7736	11.5919|11.5919	0.50951|0.50951	0.0:0.6933:0.2346:0.0721|0.0:0.6933:0.2346:0.0721	.|.	426;555;499;554|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	D|X	426;554;425;499;555|184;277;137	ENSP00000386457:A426D;ENSP00000264160:A554D;ENSP00000331396:A425D;ENSP00000386877:A499D;ENSP00000387010:A555D|.	ENSP00000264160:A554D|.	A|C	+|+	2|3	0|2	R3HDM1|R3HDM1	136125810|136125810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.479000|0.479000	0.33129|0.33129	1.127000|1.127000	0.31357|0.31357	0.691000|0.691000	0.31592|0.31592	0.561000|0.561000	0.74099|0.74099	GCT|TGC		0.458	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		6	192	1	0	0.248553	1	0.25002	6	192				
CSMD2	114784	broad.mit.edu	37	1	34180325	34180325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34180325G>A	ENST00000373381.4	-	21	3444	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1050	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCCTTCCGGATGCTGTAG	0.642																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3268-3270)Cgg>Tgg		CUB and Sushi multiple domains 2							58.0	59.0	59.0					1																	34180325		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180325G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3268C>T	1.37:g.34180325G>A	ENSP00000362479:p.Arg1090Trp						p.R1090W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3444	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1050			Sushi 6.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3268C>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.034069	0.75504	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.85	4.9	0.64082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83610	0.0133	10	0.62326	D	0.03	.	13.2389	0.59985	0.0:0.0:0.6745:0.3255	.	1050;1090	Q7Z408;E7EUA6	CSMD2_HUMAN;.	W	1090	ENSP00000362479:R1090W	ENSP00000241312:R1050W	R	-	1	2	CSMD2	33952912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.998000	0.29744	2.753000	0.94483	0.655000	0.94253	CGG		0.642	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		19	40	0	0	0	1	0	19	40				
TRIM21	6737	broad.mit.edu	37	11	4411432	4411432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4411432C>T	ENST00000254436.7	-	2	320	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TRIM21_ENST00000543625.1_Missense_Mutation_p.A70T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	70					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACCATGTTGGCTAGCTGTCGA	0.567																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(208-210)Gcc>Acc		tripartite motif containing 21							85.0	88.0	87.0					11																	4411432		2054	4214	6268	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411432C>T	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.208G>A	11.37:g.4411432C>T	ENSP00000254436:p.Ala70Thr					TRIM21_ENST00000543625.1_Missense_Mutation_p.A70T	p.A70T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	320	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	70					Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.208G>A	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323652	0.41096	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	D;D	0.84589	-1.87;-1.87	4.46	4.46	0.54185	Zinc finger, RING/FYVE/PHD-type (1);	0.134719	0.34460	N	0.003945	D	0.84261	0.5433	N	0.08118	0	0.26119	N	0.980574	D	0.89917	1.0	D	0.83275	0.996	T	0.78856	-0.2039	10	0.87932	D	0	.	15.4291	0.75077	0.0:1.0:0.0:0.0	.	70	P19474	RO52_HUMAN	T	70	ENSP00000254436:A70T;ENSP00000444045:A70T	ENSP00000254436:A70T	A	-	1	0	TRIM21	4368008	0.684000	0.27642	0.434000	0.26772	0.007000	0.05969	1.112000	0.31172	2.760000	0.94817	0.655000	0.94253	GCC		0.567	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		34	41	0	0	0	1	0	34	41				
CLDND2	125875	broad.mit.edu	37	19	51871826	51871826	+	Silent	SNP	C	C	T	rs538045785		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51871826C>T	ENST00000291715.1	-	1	431	c.6G>A	c.(4-6)ggG>ggA	p.G2G	ETFB_ENST00000309244.4_5'Flank|CLDND2_ENST00000601435.1_Silent_p.G2G|CTD-2616J11.11_ENST00000600067.1_5'Flank	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	2						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCGCTTCACCCCCATGCCAC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		12236	0.001		0.0	False		,,,				2504	0.0					ENST00000291715.1																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(4-6)ggG>ggA		claudin domain containing 2							45.0	40.0	42.0					19																	51871826		2203	4300	6503	SO:0001819	synonymous_variant	125875					integral to membrane		g.chr19:51871826C>T	BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.6G>A	19.37:g.51871826C>T						CLDND2_ENST00000601435.1_Silent_p.G2G	p.G2G	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	431	-		all_neural(266;0.0199)	2						Silent	SNP	ENST00000291715.1	37	c.6G>A	CCDS12829.1																																																																																				0.672	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1	NM_152353		10	11	0	0	0	1	0	10	11				
PRDM16	63976	broad.mit.edu	37	1	3102694	3102694	+	Missense_Mutation	SNP	G	G	A	rs201559520		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3102694G>A	ENST00000270722.5	+	2	92	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	PRDM16_ENST00000441472.2_Missense_Mutation_p.G15S|PRDM16_ENST00000378391.2_Missense_Mutation_p.G15S|PRDM16_ENST00000511072.1_Missense_Mutation_p.G15S|PRDM16_ENST00000378398.3_Missense_Mutation_p.G15S|PRDM16_ENST00000442529.2_Missense_Mutation_p.G15S|PRDM16_ENST00000514189.1_Missense_Mutation_p.G15S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	15					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTTAGGTGACGGTGACGTTGT	0.622			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(43-45)Ggt>Agt		PR domain containing 16							43.0	55.0	51.0					1																	3102694		2177	4256	6433	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3102694G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.43G>A	1.37:g.3102694G>A	ENSP00000270722:p.Gly15Ser					PRDM16_ENST00000514189.1_Missense_Mutation_p.G15S|PRDM16_ENST00000511072.1_Missense_Mutation_p.G15S|PRDM16_ENST00000442529.2_Missense_Mutation_p.G15S|PRDM16_ENST00000441472.2_Missense_Mutation_p.G15S|PRDM16_ENST00000378391.2_Missense_Mutation_p.G15S|PRDM16_ENST00000270722.5_Missense_Mutation_p.G15S	p.G15S			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	2	125	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	15					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.43G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954134	0.34471	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.1	4.07	0.47477	.	0.129648	0.31859	U	0.006944	T	0.10294	0.0252	N	0.03115	-0.41	0.80722	D	1	B;B;B;B	0.24533	0.064;0.105;0.093;0.064	B;B;B;B	0.16722	0.007;0.016;0.011;0.007	T	0.19811	-1.0294	10	0.18710	T	0.47	.	3.3383	0.07108	0.397:0.0:0.603:0.0	.	15;15;15;15	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	S	15	ENSP00000426975:G15S;ENSP00000367651:G15S;ENSP00000407968:G15S;ENSP00000405253:G15S;ENSP00000367643:G15S;ENSP00000421400:G15S;ENSP00000270722:G15S	ENSP00000270722:G15S	G	+	1	0	PRDM16	3092554	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.427000	0.73378	2.368000	0.80403	0.561000	0.74099	GGT		0.622	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		18	35	0	0	0	1	0	18	35				
C1orf112	55732	broad.mit.edu	37	1	169773305	169773305	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169773305G>A	ENST00000286031.6	+	6	1102	c.402G>A	c.(400-402)caG>caA	p.Q134Q	C1orf112_ENST00000413811.2_Silent_p.Q105Q|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000456684.1_Silent_p.Q192Q|C1orf112_ENST00000359326.4_Silent_p.Q134Q	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	134										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAAAAGCAGTTAATGGAAC	0.393																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(400-402)caG>caA		chromosome 1 open reading frame 112							129.0	126.0	127.0					1																	169773305		2203	4300	6503	SO:0001819	synonymous_variant	55732							g.chr1:169773305G>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.402G>A	1.37:g.169773305G>A						C1orf112_ENST00000413811.2_Silent_p.Q105Q|C1orf112_ENST00000456684.1_Silent_p.Q192Q|C1orf112_ENST00000359326.4_Silent_p.Q134Q|C1orf112_ENST00000498289.1_3'UTR	p.Q134Q	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			6	1102	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		134					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	c.402G>A	CCDS1285.1																																																																																				0.393	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		69	78	0	0	0	1	0	69	78				
PRRC2C	23215	broad.mit.edu	37	1	171482312	171482312	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171482312G>A	ENST00000338920.4	+	3	521		c.e3+1		PRRC2C_ENST00000367742.3_Splice_Site|PRRC2C_ENST00000476522.1_Splice_Site|PRRC2C_ENST00000426496.2_Splice_Site|PRRC2C_ENST00000392078.3_Splice_Site	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C						hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAGAAGAAAAGTGAGTCAAAG	0.383																																						ENST00000367742.3																			0											c.e3+1		proline-rich coiled-coil 2C							52.0	47.0	49.0					1																	171482312		2203	4300	6503	SO:0001630	splice_region_variant	23215						protein C-terminus binding	g.chr1:171482312G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.284+1G>A	1.37:g.171482312G>A						PRRC2C_ENST00000392078.3_Splice_Site|PRRC2C_ENST00000426496.2_Splice_Site|PRRC2C_ENST00000338920.4_Splice_Site|PRRC2C_ENST00000476522.1_Splice_Site				Q9Y520	PRC2C_HUMAN			3	532	+								Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Splice_Site	SNP	ENST00000338920.4	37		CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781870	0.90282	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7554	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRC2C	169748936	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.340000	0.97038	2.665000	0.90641	0.563000	0.77884	.		0.383	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	Intron	7	8	0	0	0	1	0	7	8				
NUDT15	55270	broad.mit.edu	37	13	48615099	48615099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48615099G>T	ENST00000258662.2	+	2	382	c.202G>T	c.(202-204)Gca>Tca	p.A68S	SUCLA2_ENST00000543413.1_5'Flank	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	68	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		CTGGGAAGAAGCAGCTCTTCA	0.333																																						ENST00000258662.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(202-204)Gca>Tca		nudix (nucleoside diphosphate linked moiety X)-type motif 15							76.0	75.0	75.0					13																	48615099		2203	4300	6503	SO:0001583	missense	55270						hydrolase activity|metal ion binding	g.chr13:48615099G>T		CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"""Nudix motif containing"""	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.202G>T	13.37:g.48615099G>T	ENSP00000258662:p.Ala68Ser						p.A68S	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN		GBM - Glioblastoma multiforme(144;4.83e-07)	2	382	+		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	68			Nudix hydrolase.		A2RUR6|Q32Q27|Q6P2C9	Missense_Mutation	SNP	ENST00000258662.2	37	c.202G>T	CCDS9407.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640072	0.47153	.	.	ENSG00000136159	ENST00000258662	T	0.15718	2.4	5.66	3.93	0.45458	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.104089	0.64402	D	0.000004	T	0.17109	0.0411	L	0.52266	1.64	0.38907	D	0.957442	B	0.18863	0.031	B	0.24394	0.053	T	0.05305	-1.0893	10	0.54805	T	0.06	-6.5827	9.6846	0.40091	0.1669:0.0:0.8331:0.0	.	68	Q9NV35	NUD15_HUMAN	S	68	ENSP00000258662:A68S	ENSP00000258662:A68S	A	+	1	0	NUDT15	47513100	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	1.834000	0.39171	1.405000	0.46838	0.555000	0.69702	GCA		0.333	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283		9	33	1	0	4.36969e-10	1	5.35656e-10	9	33				
INPP4B	8821	broad.mit.edu	37	4	143159150	143159150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143159150C>A	ENST00000513000.1	-	13	1136	c.703G>T	c.(703-705)Gta>Tta	p.V235L	INPP4B_ENST00000508116.1_Missense_Mutation_p.V235L|INPP4B_ENST00000509777.1_Missense_Mutation_p.V235L|INPP4B_ENST00000262992.4_Missense_Mutation_p.V235L|INPP4B_ENST00000308502.4_Missense_Mutation_p.V235L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	235					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AATTTACATACTGGGTTCTTT	0.313																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(703-705)Gta>Tta		inositol polyphosphate-4-phosphatase, type II, 105kDa							37.0	37.0	37.0					4																	143159150		2202	4298	6500	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143159150C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.703G>T	4.37:g.143159150C>A	ENSP00000425487:p.Val235Leu					INPP4B_ENST00000308502.4_Missense_Mutation_p.V235L|INPP4B_ENST00000508116.1_Missense_Mutation_p.V235L|INPP4B_ENST00000262992.4_Missense_Mutation_p.V235L|INPP4B_ENST00000509777.1_Missense_Mutation_p.V235L	p.V235L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			13	1136	-	all_hematologic(180;0.158)		235					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.703G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642778	0.29246	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.49	5.49	0.81192	.	0.232649	0.33691	N	0.004656	T	0.22044	0.0531	L	0.31752	0.955	0.39786	D	0.972365	B;P	0.36712	0.383;0.566	B;B	0.40101	0.095;0.319	T	0.04870	-1.0921	10	0.10636	T	0.68	.	9.6923	0.40136	0.0:0.8074:0.0:0.1926	.	106;235	B7Z6T2;O15327	.;INP4B_HUMAN	L	235;235;235;106;235;235;50;50;235;106	ENSP00000425487:V235L;ENSP00000262992:V235L;ENSP00000308441:V235L;ENSP00000423954:V235L;ENSP00000422793:V235L;ENSP00000426207:V50L;ENSP00000427250:V235L;ENSP00000421065:V106L	ENSP00000262992:V235L	V	-	1	0	INPP4B	143378600	0.740000	0.28207	1.000000	0.80357	0.315000	0.28087	1.320000	0.33666	2.718000	0.92993	0.655000	0.94253	GTA		0.313	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		10	13	1	0	3.07112e-06	1	3.52574e-06	10	13				
CNP	1267	broad.mit.edu	37	17	40120334	40120334	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40120334C>T	ENST00000393892.3	+	2	396	c.252C>T	c.(250-252)gaC>gaT	p.D84D	CNP_ENST00000472031.1_Intron|TTC25_ENST00000591658.1_RNA|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Silent_p.D64D	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	84					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGTCGGCTGACGCTTACAAGA	0.632																																						ENST00000393892.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(250-252)gaC>gaT		2',3'-cyclic nucleotide 3' phosphodiesterase							30.0	34.0	33.0					17																	40120334		2088	4202	6290	SO:0001819	synonymous_variant	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40120334C>T		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.252C>T	17.37:g.40120334C>T						CNP_ENST00000393888.1_Silent_p.D64D|CNP_ENST00000472031.1_Intron|CNP_ENST00000591072.1_Intron|CNP_ENST00000592446.1_3'UTR	p.D84D	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	2	396	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	84						Silent	SNP	ENST00000393892.3	37	c.252C>T	CCDS11414.2																																																																																				0.632	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			10	12	0	0	0	1	0	10	12				
C9orf84	158401	broad.mit.edu	37	9	114543212	114543212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114543212C>A	ENST00000318737.4	-	2	191	c.63G>T	c.(61-63)gaG>gaT	p.E21D	C9orf84_ENST00000374283.5_Missense_Mutation_p.E85D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E21D	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	21										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATACATACTTCTCAAGGAAAT	0.368																																						ENST00000374287.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(61-63)gaG>gaT		chromosome 9 open reading frame 84							75.0	73.0	74.0					9																	114543212		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114543212C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.63G>T	9.37:g.114543212C>A	ENSP00000322108:p.Glu21Asp					C9orf84_ENST00000318737.4_Missense_Mutation_p.E21D|C9orf84_ENST00000374283.5_Missense_Mutation_p.E85D	p.E21D			Q5VXU9	CI084_HUMAN			4	323	-			21					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.63G>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094604	0.56075	.	.	ENSG00000165181	ENST00000374287;ENST00000318737;ENST00000374283	T;T;T	0.58940	3.15;3.15;0.3	4.52	-0.902	0.10537	.	0.487541	0.16288	N	0.221001	T	0.54029	0.1833	L	0.29908	0.895	0.25885	N	0.983546	D;D	0.63880	0.993;0.99	P;P	0.61397	0.888;0.829	T	0.48422	-0.9037	10	0.33940	T	0.23	-19.8382	7.3696	0.26794	0.0:0.4671:0.0:0.5329	.	85;21	Q5VXU9-2;Q5VXU9	.;CI084_HUMAN	D	21;21;85	ENSP00000363405:E21D;ENSP00000322108:E21D;ENSP00000363401:E85D	ENSP00000322108:E21D	E	-	3	2	C9orf84	113583033	0.998000	0.40836	0.967000	0.41034	0.784000	0.44337	0.171000	0.16685	-0.054000	0.13266	-0.237000	0.12165	GAG		0.368	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		5	45	1	0	0.014758	1	0.0152625	5	45				
CNTD1	124817	broad.mit.edu	37	17	40951108	40951108	+	Missense_Mutation	SNP	G	G	A	rs576984150	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40951108G>A	ENST00000588408.1	+	1	299	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	8										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGAGGCCACGATCGGCCTCC	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		15969	0.0		0.0	False		,,,				2504	0.0031					ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(22-24)cGa>cAa		cyclin N-terminal domain containing 1							45.0	38.0	40.0					17																	40951108		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40951108G>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.23G>A	17.37:g.40951108G>A	ENSP00000465204:p.Arg8Gln					CNTD1_ENST00000588527.1_Intron	p.R8Q	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	299	+		Breast(137;0.00104)	8					Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.23G>A	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086629	0.55861	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.04	4.07	0.47477	.	0.117120	0.52532	D	0.000063	T	0.33118	0.0852	L	0.59436	1.845	0.22017	N	0.999415	B	0.32731	0.382	B	0.19666	0.026	T	0.33163	-0.9879	9	0.52906	T	0.07	-2.0362	7.6547	0.28369	0.1857:0.0:0.8143:0.0	.	8	Q8N815	CNTD1_HUMAN	Q	8	.	ENSP00000316647:R8Q	R	+	2	0	CNTD1	38204634	0.005000	0.15991	0.008000	0.14137	0.039000	0.13416	1.374000	0.34283	1.358000	0.45922	0.655000	0.94253	CGA		0.572	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		4	14	0	0	0	1	0	4	14				
DDAH2	23564	broad.mit.edu	37	6	31696257	31696257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31696257C>A	ENST00000375789.2	-	3	1072	c.442G>T	c.(442-444)Gga>Tga	p.G148*	DDAH2_ENST00000375787.2_Nonsense_Mutation_p.G148*|DDAH2_ENST00000375792.3_Nonsense_Mutation_p.G148*|DDAH2_ENST00000480913.1_5'UTR			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	148					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ATCTCAGCTCCTCGGTGATTG	0.662																																						ENST00000375789.2																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(442-444)Gga>Tga		dimethylarginine dimethylaminohydrolase 2	L-Citrulline(DB00155)						29.0	32.0	31.0					6																	31696257		1509	2707	4216	SO:0001587	stop_gained	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31696257C>A	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.442G>T	6.37:g.31696257C>A	ENSP00000364945:p.Gly148*					DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Nonsense_Mutation_p.G148*|DDAH2_ENST00000375787.2_Nonsense_Mutation_p.G148*	p.G148*			O95865	DDAH2_HUMAN			3	1072	-			148					A2BEZ7	Nonsense_Mutation	SNP	ENST00000375789.2	37	c.442G>T	CCDS4718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.327098|7.327098	0.98214|0.98214	.|.	.|.	ENSG00000213722|ENSG00000213722	ENST00000375789;ENST00000375787;ENST00000375792;ENST00000416410;ENST00000436437|ENST00000437288	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69324	.|0.3098	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73081	.|-0.4095	.|4	0.87932|0.59425	D|D	0|0.04	-0.1414|-0.1414	16.304|16.304	0.82841|0.82841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	148|53	.|.	ENSP00000364943:G148X|ENSP00000413164:R53M	G|R	-|-	1|2	0|0	DDAH2|DDAH2	31804236|31804236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	6.795000|6.795000	0.75140|0.75140	2.439000|2.439000	0.82584|0.82584	0.563000|0.563000	0.77884|0.77884	GGA|AGG		0.662	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			4	23	1	0	0.184627	1	0.186383	4	23				
SEC14L3	266629	broad.mit.edu	37	22	30857347	30857347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30857347G>A	ENST00000215812.4	-	11	1121	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	SEC14L3_ENST00000401751.1_Missense_Mutation_p.A285V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A267V|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A267V|SEC14L3_ENST00000403066.1_Missense_Mutation_p.A285V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.A285V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A285V	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	344	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CACCATGTGGGCGTTATAGCG	0.612																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(853-855)gCc>gTc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						87.0	83.0	84.0					22																	30857347		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857347G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1031C>T	22.37:g.30857347G>A	ENSP00000215812:p.Ala344Val					SEC14L3_ENST00000402286.1_Missense_Mutation_p.A267V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.A285V|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A285V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A285V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.A344V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A267V	p.A285V			Q9UDX4	S14L3_HUMAN			12	1137	-			344			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.854C>T	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106017	0.94292	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.67	5.67	0.87782	GOLD (2);	0.050080	0.85682	D	0.000000	T	0.61476	0.2350	M	0.85945	2.785	0.80722	D	1	P;P	0.48640	0.913;0.834	P;P	0.45343	0.477;0.477	T	0.68830	-0.5305	10	0.59425	D	0.04	-31.593	19.3706	0.94481	0.0:0.0:1.0:0.0	.	267;344	E9PE57;Q9UDX4	.;S14L3_HUMAN	V	285;285;344;267;285;285;267	ENSP00000385941:A285V;ENSP00000401864:A285V;ENSP00000215812:A344V;ENSP00000385004:A267V;ENSP00000383896:A285V;ENSP00000444691:A285V;ENSP00000439752:A267V	ENSP00000215812:A344V	A	-	2	0	SEC14L3	29187347	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.225000	0.95219	2.676000	0.91093	0.655000	0.94253	GCC		0.612	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		4	82	0	0	0	1	0	4	82				
CCDC39	339829	broad.mit.edu	37	3	180337714	180337714	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180337714C>T	ENST00000442201.2	-	15	2162	c.2043G>A	c.(2041-2043)ttG>ttA	p.L681L	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	681					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTGGCATCCAAACAGTCAC	0.353																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2041-2043)ttG>ttA		coiled-coil domain containing 39							106.0	91.0	95.0					3																	180337714		1831	4072	5903	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180337714C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2043G>A	3.37:g.180337714C>T						CCDC39_ENST00000273654.4_Intron	p.L681L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		15	2162	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		681					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2043G>A	CCDS46964.1																																																																																				0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		7	15	0	0	0	1	0	7	15				
KDM7A	80853	broad.mit.edu	37	7	139796538	139796538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139796538C>A	ENST00000397560.2	-	17	2288	c.2191G>T	c.(2191-2193)Gag>Tag	p.E731*	Y_RNA_ENST00000515919.1_RNA|JHDM1D_ENST00000006967.5_Nonsense_Mutation_p.E731*	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		731					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCTTCTTCCTCTGTGCTCGTC	0.393																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2191-2193)Gag>Tag									120.0	114.0	116.0					7																	139796538		1955	4136	6091	SO:0001587	stop_gained	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139796538C>A																												ENST00000397560.2:c.2191G>T	7.37:g.139796538C>A	ENSP00000380692:p.Glu731*					JHDM1D_ENST00000006967.5_Nonsense_Mutation_p.E731*	p.E731*	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			17	2288	-	Melanoma(164;0.0142)		731					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Nonsense_Mutation	SNP	ENST00000397560.2	37	c.2191G>T	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	38	7.114408	0.98074	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	.	.	.	5.85	5.85	0.93711	.	0.111589	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-22.6682	20.1601	0.98131	0.0:1.0:0.0:0.0	.	.	.	.	X	731	.	ENSP00000006967:E731X	E	-	1	0	JHDM1D	139443007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.521000	0.73778	2.765000	0.95021	0.563000	0.77884	GAG		0.393	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			13	93	1	0	0.000219431	1	0.000240782	13	93				
HSD17B11	51170	broad.mit.edu	37	4	88278558	88278558	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88278558A>G	ENST00000358290.4	-	5	883	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.F146L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	190					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACAGCAGCAAACTTGCTTGAA	0.378																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(568-570)Ttt>Ctt		hydroxysteroid (17-beta) dehydrogenase 11							72.0	67.0	69.0					4																	88278558		2202	4299	6501	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88278558A>G	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.568T>C	4.37:g.88278558A>G	ENSP00000351035:p.Phe190Leu					HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.F146L	p.F190L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	5	883	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	190					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.568T>C	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928488	0.73327	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.87491	-2.26;0.76	5.66	4.48	0.54585	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92241	0.7539	M	0.78344	2.41	0.45515	D	0.998471	D	0.65815	0.995	D	0.69824	0.966	D	0.92042	0.5641	10	0.72032	D	0.01	.	10.6599	0.45696	0.9239:0.0:0.0761:0.0	.	190	Q8NBQ5	DHB11_HUMAN	L	190;146	ENSP00000351035:F190L;ENSP00000423775:F146L	ENSP00000351035:F190L	F	-	1	0	HSD17B11	88497582	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.606000	0.67641	0.971000	0.38288	0.459000	0.35465	TTT		0.378	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		9	25	0	0	0	1	0	9	25				
FAT4	79633	broad.mit.edu	37	4	126371190	126371190	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126371190G>T	ENST00000394329.3	+	9	9032	c.9019G>T	c.(9019-9021)Gca>Tca	p.A3007S	FAT4_ENST00000335110.5_Missense_Mutation_p.A1305S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3007	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAGTTACAGCAATAGATGA	0.338																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9019-9021)Gca>Tca		FAT atypical cadherin 4							60.0	63.0	62.0					4																	126371190		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371190G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9019G>T	4.37:g.126371190G>T	ENSP00000377862:p.Ala3007Ser					FAT4_ENST00000335110.5_Missense_Mutation_p.A1305S	p.A3007S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9032	+			3007			Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9019G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736469	0.49045	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01725	4.67;4.67	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	0.000000	0.34088	U	0.004277	T	0.20170	0.0485	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.997	T	0.12372	-1.0550	10	0.66056	D	0.02	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	1305;3007;3007	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3007;1305	ENSP00000377862:A3007S;ENSP00000335169:A1305S	ENSP00000335169:A1305S	A	+	1	0	FAT4	126590640	1.000000	0.71417	0.254000	0.24359	0.020000	0.10135	9.666000	0.98612	2.746000	0.94184	0.655000	0.94253	GCA		0.338	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	49	1	0	1.02788e-11	1	1.28409e-11	16	49				
XIRP2	129446	broad.mit.edu	37	2	168115641	168115641	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115641T>C	ENST00000409728.1	+	11	2773	c.2684T>C	c.(2683-2685)gTa>gCa	p.V895A	XIRP2_ENST00000409756.2_Missense_Mutation_p.V862A|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V895A|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.V862A|XIRP2_ENST00000409605.1_Missense_Mutation_p.V640A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGATTCTGTAGATCAAATT	0.318																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2683-2685)gTa>gCa		xin actin-binding repeat containing 2							45.0	43.0	43.0					2																	168115641		1819	4075	5894	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115641T>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2684T>C	2.37:g.168115641T>C	ENSP00000386619:p.Val895Ala					XIRP2_ENST00000409605.1_Missense_Mutation_p.V640A|XIRP2_ENST00000409756.2_Missense_Mutation_p.V862A|XIRP2_ENST00000409043.1_Missense_Mutation_p.V862A|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V895A	p.V895A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2773	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.2684T>C	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.052795	0.36181	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	D;D;D;D;D	0.86097	-1.97;-1.96;-1.97;-1.96;-2.07	5.78	4.62	0.57501	.	.	.	.	.	T	0.79358	0.4432	.	.	.	0.80722	D	1	B;B	0.20671	0.047;0.047	B;B	0.23419	0.046;0.046	T	0.73363	-0.4006	8	0.44086	T	0.13	.	9.1163	0.36760	0.0:0.1471:0.0:0.8529	.	862;895	A4UGR9-4;A4UGR9-6	.;.	A	862;895;862;895;640	ENSP00000386454:V862A;ENSP00000386619:V895A;ENSP00000386724:V862A;ENSP00000415541:V895A;ENSP00000386981:V640A	ENSP00000386454:V862A	V	+	2	0	XIRP2	167823887	0.901000	0.30685	0.691000	0.30163	0.143000	0.21401	0.906000	0.28517	1.016000	0.39470	0.454000	0.30748	GTA		0.318	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		7	39	0	0	0	1	0	7	39				
NRIP1	8204	broad.mit.edu	37	21	16338404	16338404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:16338404C>A	ENST00000400202.1	-	3	2822	c.2110G>T	c.(2110-2112)Gaa>Taa	p.E704*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E704*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E704*|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	704					androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGCAGATTTTCTATTTCAGAA	0.408																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(2110-2112)Gaa>Taa		nuclear receptor interacting protein 1							74.0	72.0	73.0					21																	16338404		2203	4300	6503	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338404C>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2110G>T	21.37:g.16338404C>A	ENSP00000383063:p.Glu704*					NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E704*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E704*	p.E704*			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2822	-			704					Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.2110G>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	45	11.885233	0.99613	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.1087	16.7497	0.85482	0.0:0.8712:0.1288:0.0	.	.	.	.	X	704	.	ENSP00000327213:E704X	E	-	1	0	NRIP1	15260275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.507000	0.66999	2.865000	0.98341	0.655000	0.94253	GAA		0.408	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		29	47	1	0	1.75199e-13	1	2.22232e-13	29	47				
COL12A1	1303	broad.mit.edu	37	6	75844497	75844497	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844497T>C	ENST00000322507.8	-	32	5778	c.5469A>G	c.(5467-5469)gtA>gtG	p.V1823V	COL12A1_ENST00000483888.2_Silent_p.V1823V|COL12A1_ENST00000345356.6_Silent_p.V659V|COL12A1_ENST00000416123.2_Silent_p.V1823V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGAGAGGATACGGTGATAG	0.463																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5467-5469)gtA>gtG		collagen, type XII, alpha 1							135.0	136.0	136.0					6																	75844497		1962	4153	6115	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844497T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5469A>G	6.37:g.75844497T>C						COL12A1_ENST00000416123.2_Silent_p.V1823V|COL12A1_ENST00000483888.2_Silent_p.V1823V|COL12A1_ENST00000345356.6_Silent_p.V659V	p.V1823V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5778	-			1823			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5469A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	6.166	0.398789	0.11696	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.87	0.301	0.15781	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	.	1.2382	0.01958	0.2252:0.3431:0.2333:0.1985	.	.	.	.	V	558	.	.	I	-	1	0	COL12A1	75901217	0.948000	0.32251	0.970000	0.41538	0.551000	0.35334	0.049000	0.14099	0.380000	0.24823	-0.182000	0.12963	ATC		0.463	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		28	53	0	0	0	1	0	28	53				
FRMPD4	9758	broad.mit.edu	37	X	12734712	12734712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734712G>A	ENST00000380682.1	+	15	2640	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	712					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCAGTTTGTGGAAAATTCTGT	0.498																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2134-2136)Gaa>Aaa		FERM and PDZ domain containing 4							136.0	143.0	141.0					X																	12734712		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734712G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2134G>A	X.37:g.12734712G>A	ENSP00000370057:p.Glu712Lys						p.E712K	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2640	+			712					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2134G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697599	0.48307	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.26810	1.71	5.71	4.66	0.58398	.	0.343327	0.33938	N	0.004406	T	0.14013	0.0339	N	0.08118	0	0.20638	N	0.999878	B;B	0.13594	0.008;0.008	B;B	0.12837	0.008;0.008	T	0.15780	-1.0425	10	0.48119	T	0.1	-4.5094	12.0122	0.53293	0.1423:0.0:0.8577:0.0	.	704;712	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	K	712;703;701	ENSP00000370057:E712K	ENSP00000304583:E701K	E	+	1	0	FRMPD4	12644633	1.000000	0.71417	0.907000	0.35723	0.739000	0.42172	2.090000	0.41682	2.402000	0.81655	0.600000	0.82982	GAA		0.498	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		91	163	0	0	0	1	0	91	163				
KLF4	9314	broad.mit.edu	37	9	110250325	110250325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110250325G>A	ENST00000374672.4	-	3	823	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	117					cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACTGACTCCGGAGGATGGGT	0.647																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(349-351)cCg>cTg		Kruppel-like factor 4 (gut)							24.0	20.0	21.0					9																	110250325		2195	4292	6487	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110250325G>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.350C>T	9.37:g.110250325G>A	ENSP00000363804:p.Pro117Leu						p.P117L	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			3	823	-			117					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.350C>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	1.059	-0.673374	0.03403	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.04603	3.59	0.158	0.158	0.14942	.	0.410669	0.17860	N	0.159546	T	0.01976	0.0062	N	0.08118	0	0.27488	N	0.952377	B;B	0.31519	0.327;0.0	B;B	0.14023	0.01;0.0	T	0.44421	-0.9329	9	0.41790	T	0.15	.	.	.	.	.	117;117	O43474;O43474-1	KLF4_HUMAN;.	L	117;108	ENSP00000363804:P117L	ENSP00000363804:P117L	P	-	2	0	KLF4	109290146	0.785000	0.28726	0.311000	0.25182	0.014000	0.08584	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	CCG		0.647	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		8	11	0	0	0	1	0	8	11				
HERC4	26091	broad.mit.edu	37	10	69682740	69682740	+	Missense_Mutation	SNP	C	C	T	rs199939360	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69682740C>T	ENST00000395198.3	-	26	3369	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	HERC4_ENST00000412272.2_Missense_Mutation_p.R963H|HERC4_ENST00000373700.4_Missense_Mutation_p.R1033H|HERC4_ENST00000277817.6_Missense_Mutation_p.R931H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	1041	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CAGTTTAGAGCGTAGAGTTTC	0.358													C|||	3	0.000599042	0.0	0.0	5008	,	,		18428	0.0		0.003	False		,,,				2504	0.0					ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(3121-3123)cGc>cAc		HECT and RLD domain containing E3 ubiquitin protein ligase 4							128.0	139.0	136.0					10																	69682740		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69682740C>T	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.3122G>A	10.37:g.69682740C>T	ENSP00000378624:p.Arg1041His					HERC4_ENST00000277817.6_Missense_Mutation_p.R931H|HERC4_ENST00000373700.4_Missense_Mutation_p.R1033H|HERC4_ENST00000412272.2_Missense_Mutation_p.R963H	p.R1041H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			26	3369	-			1041			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.3122G>A	CCDS41533.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	20.7	4.032751	0.75504	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.49	5.49	0.81192	HECT (4);	0.181219	0.49916	D	0.000132	T	0.68256	0.2981	M	0.82056	2.57	0.80722	D	1	P;D;D;D;D	0.69078	0.871;0.996;0.972;0.984;0.997	B;P;P;P;P	0.59643	0.276;0.795;0.803;0.702;0.861	T	0.72130	-0.4383	10	0.72032	D	0.01	.	10.8699	0.46877	0.0:0.8853:0.0:0.1147	.	963;931;891;1033;1041	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	H	931;963;1041;1033	ENSP00000277817:R931H;ENSP00000416504:R963H;ENSP00000378624:R1041H;ENSP00000362804:R1033H	ENSP00000277817:R931H	R	-	2	0	HERC4	69352746	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.645000	0.54389	2.733000	0.93635	0.655000	0.94253	CGC		0.358	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		57	103	0	0	0	1	0	57	103				
THSD7B	80731	broad.mit.edu	37	2	138376002	138376002	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138376002T>C	ENST00000409968.1	+	19	3784	c.3606T>C	c.(3604-3606)ggT>ggC	p.G1202G	THSD7B_ENST00000272643.3_Silent_p.G1205G|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G1174G			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1204	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACCCTGTGGTCAAGGCGTCA	0.493																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3604-3606)ggT>ggC		thrombospondin, type I, domain containing 7B							94.0	105.0	102.0					2																	138376002		2116	4231	6347	SO:0001819	synonymous_variant	80731							g.chr2:138376002T>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3606T>C	2.37:g.138376002T>C						THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G1205G|THSD7B_ENST00000413152.2_Silent_p.G1174G	p.G1202G						BRCA - Breast invasive adenocarcinoma(221;0.19)	19	3784	+									Silent	SNP	ENST00000409968.1	37	c.3606T>C																																																																																					0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		3	26	0	0	0	1	0	3	26				
AGMO	392636	broad.mit.edu	37	7	15599897	15599897	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:15599897C>A	ENST00000342526.3	-	2	296		c.e2-1			NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase						ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGGAGTTGCCTGGAAAGGAA	0.393																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.e2-1		alkylglycerol monooxygenase							66.0	65.0	65.0					7																	15599897		2203	4299	6502	SO:0001630	splice_region_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599897C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.127-1G>T	7.37:g.15599897C>A								NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			2	296	-								A4D114|A6NCH5	Splice_Site	SNP	ENST00000342526.3	37		CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670057	0.67814	.	.	ENSG00000187546	ENST00000342526	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGMO	15566422	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.304000	0.65744	2.885000	0.99019	0.655000	0.94253	.		0.393	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	Intron	4	58	1	0	0.000602214	1	0.000649039	4	58				
MSL3	10943	broad.mit.edu	37	X	11783771	11783771	+	Missense_Mutation	SNP	G	G	T	rs147804390	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783771G>T	ENST00000312196.4	+	9	1199	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	MSL3_ENST00000361672.2_Missense_Mutation_p.S216I|MSL3_ENST00000380693.3_Missense_Mutation_p.S199I|MSL3_ENST00000337339.2_Missense_Mutation_p.S365I|MSL3_ENST00000398527.2_Missense_Mutation_p.S353I	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	365	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TCTGAGAGCAGCGCTTCACCT	0.612																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1093-1095)aGc>aTc		male-specific lethal 3 homolog (Drosophila)							88.0	87.0	87.0					X																	11783771		2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783771G>T	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1094G>T	X.37:g.11783771G>T	ENSP00000312244:p.Ser365Ile					MSL3_ENST00000361672.2_Missense_Mutation_p.S216I|MSL3_ENST00000380693.3_Missense_Mutation_p.S199I|MSL3_ENST00000312196.4_Missense_Mutation_p.S365I|MSL3_ENST00000398527.2_Missense_Mutation_p.S353I	p.S365I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1121	+			365					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1094G>T	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827997	0.71143	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693	T;T;T;T;T	0.10288	3.22;3.08;2.89;3.05;2.89	4.32	4.32	0.51571	.	0.083458	0.85682	D	0.000000	T	0.32852	0.0843	M	0.77616	2.38	0.42157	D	0.991586	D;D;D;D;D	0.69078	0.997;0.971;0.991;0.994;0.994	D;P;P;P;D	0.65874	0.939;0.801;0.858;0.889;0.917	T	0.20240	-1.0281	10	0.51188	T	0.08	.	16.4653	0.84077	0.0:0.0:1.0:0.0	.	353;216;306;365;365	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	I	365;365;216;353;199	ENSP00000312244:S365I;ENSP00000338078:S365I;ENSP00000354562:S216I;ENSP00000381538:S353I;ENSP00000370069:S199I	ENSP00000312244:S365I	S	+	2	0	MSL3	11693692	1.000000	0.71417	0.793000	0.32043	0.913000	0.54294	6.524000	0.73791	1.884000	0.54569	0.600000	0.82982	AGC		0.612	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		47	67	1	0	5.7616e-29	1	7.70675e-29	47	67				
STYXL1	51657	broad.mit.edu	37	7	75634663	75634663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75634663G>A	ENST00000248600.1	-	6	855	c.513C>T	c.(511-513)ggC>ggT	p.G171G	STYXL1_ENST00000451157.1_Silent_p.G171G|STYXL1_ENST00000340062.5_Silent_p.G75G|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Silent_p.G171G|STYXL1_ENST00000359697.3_Silent_p.G171G	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	171	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACTGAAATTGCCAACGAAGA	0.468																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(511-513)ggC>ggT		serine/threonine/tyrosine interacting-like 1							117.0	109.0	111.0					7																	75634663		2203	4300	6503	SO:0001819	synonymous_variant	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75634663G>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.513C>T	7.37:g.75634663G>A						STYXL1_ENST00000248600.1_Silent_p.G171G|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Silent_p.G171G|STYXL1_ENST00000359697.3_Silent_p.G171G|STYXL1_ENST00000340062.5_Silent_p.G75G	p.G171G			Q9Y6J8	STYL1_HUMAN			6	682	-			171			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.513C>T	CCDS5580.1																																																																																				0.468	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		7	90	0	0	0	1	0	7	90				
ZBTB7C	201501	broad.mit.edu	37	18	45567396	45567396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45567396C>T	ENST00000588982.1	-	3	584	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.R28Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	28							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R28Q(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCATCGTGCCGTTGCTCATT	0.582																																						ENST00000588982.1																			1	Substitution - Missense(1)	p.R28Q(1)	ovary(1)	endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(82-84)cGg>cAg		zinc finger and BTB domain containing 7C							84.0	77.0	79.0					18																	45567396		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567396C>T	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.83G>A	18.37:g.45567396C>T	ENSP00000468782:p.Arg28Gln					ZBTB7C_ENST00000586438.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.R28Q	p.R28Q			A1YPR0	ZBT7C_HUMAN			3	584	-			28					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.83G>A	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908657	0.92107	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.73152	-0.72;-0.72	5.04	5.04	0.67666	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	M	0.90019	3.08	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	D	0.90252	0.4294	10	0.87932	D	0	.	18.3518	0.90340	0.0:1.0:0.0:0.0	.	28;28;28	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	Q	28	ENSP00000439781:R28Q;ENSP00000328732:R28Q	ENSP00000328732:R28Q	R	-	2	0	ZBTB7C	43821394	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.332000	0.79248	0.561000	0.74099	CGG		0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		12	25	0	0	0	1	0	12	25				
EXOC8	149371	broad.mit.edu	37	1	231472057	231472057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472057C>T	ENST00000360394.2	-	1	1521	c.1435G>A	c.(1435-1437)Gca>Aca	p.A479T	SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.A475T|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	479					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCAGTGCCTGCAAAATCGATC	0.478																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(1423-1425)Gca>Aca		exocyst complex component 8							38.0	35.0	36.0					1																	231472057		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472057C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1435G>A	1.37:g.231472057C>T	ENSP00000353564:p.Ala479Thr					EXOC8_ENST00000360394.2_Missense_Mutation_p.A479T	p.A475T			Q8IYI6	EXOC8_HUMAN			1	1541	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	479					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.1423G>A	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310267	0.40895	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77750	-1.12;-1.12	5.44	5.44	0.79542	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.78114	-0.2330	10	0.17832	T	0.49	-10.7854	19.2561	0.93947	0.0:1.0:0.0:0.0	.	479	Q8IYI6	EXOC8_HUMAN	T	479;475	ENSP00000353564:A479T;ENSP00000355605:A475T	ENSP00000353564:A479T	A	-	1	0	EXOC8	229538680	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.046000	0.71029	2.538000	0.85594	0.655000	0.94253	GCA		0.478	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		6	28	0	0	0	1	0	6	28				
KBTBD12	166348	broad.mit.edu	37	3	127642974	127642974	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642974G>T	ENST00000405109.1	+	2	1537	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	KBTBD12_ENST00000405256.1_Splice_Site_p.R357M|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	357										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAAATTTATAGGTTTGTATCT	0.318																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.e2+1		kelch repeat and BTB (POZ) domain containing 12							58.0	56.0	57.0					3																	127642974		1828	4076	5904	SO:0001630	splice_region_variant	166348							g.chr3:127642974G>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1070+1G>T	3.37:g.127642974G>T						KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Splice_Site_p.R357_splice|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Intron	p.R357_splice			Q3ZCT8	KBTBC_HUMAN			2	1537	+			357					B5MCC6|Q6ZRK1	Splice_Site	SNP	ENST00000405109.1	37	c.1070_splice	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406140	0.42715	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.76709	-1.04;-1.04	5.62	5.62	0.85841	Kelch-type beta propeller (1);	.	.	.	.	T	0.74344	0.3704	L	0.49350	1.555	0.53005	D	0.999963	P	0.44090	0.826	B	0.39152	0.292	T	0.73225	-0.4050	9	0.31617	T	0.26	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	357	Q3ZCT8	KBTBC_HUMAN	M	357	ENSP00000385957:R357M;ENSP00000385879:R357M	ENSP00000385957:R357M	R	+	2	0	KBTBD12	129125664	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	6.155000	0.71833	2.810000	0.96702	0.585000	0.79938	AGG		0.318	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	Missense_Mutation	9	55	1	0	0.0581538	1	0.0593651	9	55				
TG	7038	broad.mit.edu	37	8	133899498	133899498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133899498G>T	ENST00000220616.4	+	9	1921	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D	TG_ENST00000377869.1_Missense_Mutation_p.E627D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	627	Thyroglobulin type-1 5. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCTATGAGGATGTCCAAT	0.522																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1879-1881)gaG>gaT		thyroglobulin							151.0	126.0	134.0					8																	133899498		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899498G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1881G>T	8.37:g.133899498G>T	ENSP00000220616:p.Glu627Asp					TG_ENST00000377869.1_Missense_Mutation_p.E627D	p.E627D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1921	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	627			Thyroglobulin type-1 5.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.1881G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	g	6.015	0.371205	0.11409	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.65916	-0.18;-0.18	5.03	-0.229	0.13094	Thyroglobulin type-1 (6);	0.430344	0.21797	N	0.068970	T	0.50650	0.1628	L	0.45581	1.43	0.23366	N	0.997823	B	0.18013	0.025	B	0.24006	0.05	T	0.44528	-0.9322	10	0.45353	T	0.12	.	8.8839	0.35392	0.2779:0.1454:0.5767:0.0	.	627	P01266	THYG_HUMAN	D	627	ENSP00000367100:E627D;ENSP00000220616:E627D	ENSP00000220616:E627D	E	+	3	2	TG	133968680	1.000000	0.71417	0.312000	0.25196	0.343000	0.28985	0.688000	0.25422	-0.155000	0.11098	-1.733000	0.00692	GAG		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	74	1	0	1.06961e-07	1	1.26574e-07	7	74				
COL5A2	1290	broad.mit.edu	37	2	189918930	189918930	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189918930T>C	ENST00000374866.3	-	36	2674	c.2400A>G	c.(2398-2400)ccA>ccG	p.P800P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	800					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAAAGGACCTGGAAGACCCT	0.403																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2398-2400)ccA>ccG		collagen, type V, alpha 2							68.0	68.0	68.0					2																	189918930		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189918930T>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2400A>G	2.37:g.189918930T>C							p.P800P	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		36	2674	-			800					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.2400A>G	CCDS33350.1																																																																																				0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		3	49	0	0	0	1	0	3	49				
LAMP3	27074	broad.mit.edu	37	3	182871577	182871577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182871577G>A	ENST00000265598.3	-	2	907	c.652C>T	c.(652-654)Cct>Tct	p.P218S	LAMP3_ENST00000466939.1_Missense_Mutation_p.P194S	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	218					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATGGCTGAGGTGCAAGGGTG	0.542																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(652-654)Cct>Tct		lysosomal-associated membrane protein 3							102.0	97.0	99.0					3																	182871577		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871577G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.652C>T	3.37:g.182871577G>A	ENSP00000265598:p.Pro218Ser					LAMP3_ENST00000466939.1_Missense_Mutation_p.P194S	p.P218S	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	907	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		218					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.652C>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	g	17.45	3.391815	0.62066	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.52526	0.66;0.66	5.81	4.91	0.64330	.	0.098183	0.45867	D	0.000340	T	0.64940	0.2644	M	0.71581	2.175	0.09310	N	1	D	0.65815	0.995	D	0.68192	0.956	T	0.59461	-0.7450	10	0.56958	D	0.05	-13.038	11.859	0.52454	0.0:0.0:0.8189:0.1811	.	218	Q9UQV4	LAMP3_HUMAN	S	218;194	ENSP00000265598:P218S;ENSP00000418912:P194S	ENSP00000265598:P218S	P	-	1	0	LAMP3	184354271	0.994000	0.37717	0.065000	0.19835	0.012000	0.07955	3.277000	0.51654	1.389000	0.46526	0.655000	0.94253	CCT		0.542	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			28	36	0	0	0	1	0	28	36				
TBC1D22A	25771	broad.mit.edu	37	22	47189693	47189693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47189693C>T	ENST00000337137.4	+	3	581	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120W|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139W	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	139							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGGCGACCTCCGGCTGGTGAA	0.667																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(415-417)Cgg>Tgg		TBC1 domain family, member 22A							10.0	12.0	11.0					22																	47189693		2127	4166	6293	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47189693C>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.415C>T	22.37:g.47189693C>T	ENSP00000336724:p.Arg139Trp					TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139W|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120W|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92W	p.R139W	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	3	581	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	139					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.415C>T	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606060	0.66445	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.48836	1.78;0.8;1.75;1.74;1.82	4.57	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	M	0.77820	2.39	0.41705	D	0.989424	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;P;P	0.68483	0.889;0.958;0.795;0.889	T	0.68416	-0.5414	10	0.66056	D	0.02	6.9507	10.1861	0.42998	0.3016:0.6984:0.0:0.0	.	139;120;139;139	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	W	139;92;139;120;92	ENSP00000336724:R139W;ENSP00000370383:R92W;ENSP00000384036:R139W;ENSP00000347932:R120W;ENSP00000385634:R92W	ENSP00000336724:R139W	R	+	1	2	TBC1D22A	45568357	1.000000	0.71417	0.994000	0.49952	0.739000	0.42172	1.441000	0.35035	2.367000	0.80283	0.511000	0.50034	CGG		0.667	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		3	2	0	0	0	1	0	3	2				
XPNPEP1	7511	broad.mit.edu	37	10	111631574	111631574	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111631574C>T	ENST00000502935.1	-	17	1617	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A476T|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A386T|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A457T					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGGAAAACGGCTGCACTCACA	0.463																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1498-1500)Gcc>Acc		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							110.0	105.0	107.0					10																	111631574		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111631574C>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1498G>A	10.37:g.111631574C>T	ENSP00000421566:p.Ala500Thr					XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A476T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A457T|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A386T	p.A500T			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	17	1617	-		Breast(234;0.174)	457						Missense_Mutation	SNP	ENST00000502935.1	37	c.1498G>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335024	0.81801	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	6.17	6.17	0.99709	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.62723	1.935	0.80722	D	1	P;P	0.47545	0.897;0.465	B;B	0.39738	0.308;0.229	T	0.78109	-0.2332	10	0.46703	T	0.11	-15.7275	19.0599	0.93085	0.0:1.0:0.0:0.0	.	500;457	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	T	500;386;476;457	ENSP00000421566:A500T;ENSP00000358697:A386T;ENSP00000324011:A476T;ENSP00000358694:A457T	ENSP00000324011:A476T	A	-	1	0	XPNPEP1	111621564	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	7.446000	0.80609	2.941000	0.99782	0.655000	0.94253	GCC		0.463	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			18	30	0	0	0	1	0	18	30				
TYMSOS	494514	broad.mit.edu	37	18	658106	658106	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:658106A>G	ENST00000323813.3	-	1	234	c.142T>C	c.(142-144)Ttc>Ctc	p.F48L	TYMS_ENST00000323224.7_Intron|RP11-806L2.5_ENST00000584679.1_RNA|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.F48L|TYMS_ENST00000323250.5_Intron	NM_001012716.2	NP_001012734.2	Q8TAI1	TYMOS_HUMAN		48																	CAGACGCCGAAACGGAGGGTC	0.692																																						ENST00000323813.3																			0											c.(142-144)Ttc>Ctc		chromosome 18 open reading frame 56							11.0	10.0	10.0					18																	658106		2191	4282	6473	SO:0001583	missense	494514						protein binding	g.chr18:658106A>G																												ENST00000323813.3:c.142T>C	18.37:g.658106A>G	ENSP00000316465:p.Phe48Leu					TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.F48L	p.F48L	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN			1	234	-			48					A8K1S1	Missense_Mutation	SNP	ENST00000323813.3	37	c.142T>C		.	.	.	.	.	.	.	.	.	.	A	10.89	1.478920	0.26511	.	.	ENSG00000176912	ENST00000323813	T	0.52295	0.67	2.65	0.193	0.15139	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	0.999995	P	0.46912	0.886	B	0.39379	0.298	T	0.12785	-1.0534	9	0.87932	D	0	.	3.6604	0.08237	0.6412:0.2272:0.1316:0.0	.	48	Q8TAI1	CR056_HUMAN	L	48	ENSP00000316465:F48L	ENSP00000316465:F48L	F	-	1	0	C18orf56	648106	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-0.579000	0.05834	0.037000	0.15575	0.454000	0.30748	TTC		0.692	C18orf56-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000441199.2			2	5	0	0	0	1	0	2	5				
PLCD1	5333	broad.mit.edu	37	3	38049632	38049632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049632C>T	ENST00000334661.4	-	14	2280	c.2058G>A	c.(2056-2058)acG>acA	p.T686T	PLCD1_ENST00000463876.1_Silent_p.T707T	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	686	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACGCAAACTCCGTGTCCCACC	0.542																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(2119-2121)acG>acA		phospholipase C, delta 1							122.0	119.0	120.0					3																	38049632		2203	4300	6503	SO:0001819	synonymous_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38049632C>T		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2058G>A	3.37:g.38049632C>T						PLCD1_ENST00000334661.4_Silent_p.T686T	p.T707T	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	14	2474	-			686			C2.		B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	c.2121G>A	CCDS2671.1																																																																																				0.542	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			38	60	0	0	0	1	0	38	60				
ECHS1	1892	broad.mit.edu	37	10	135176413	135176413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135176413C>T	ENST00000368547.3	-	8	1187	c.832G>A	c.(832-834)Gcg>Acg	p.A278T		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	278					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCCACAAACGCGGTCATCCCT	0.542																																					GBM(132;1720 1771 5373 10277 21402)	ENST00000368547.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(832-834)Gcg>Acg		enoyl CoA hydratase, short chain, 1, mitochondrial							272.0	205.0	228.0					10																	135176413		2203	4300	6503	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135176413C>T		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.832G>A	10.37:g.135176413C>T	ENSP00000357535:p.Ala278Thr						p.A278T	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	8	1187	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	278					O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.832G>A	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128430	0.56721	.	.	ENSG00000127884	ENST00000368547	T	0.56941	0.43	5.5	4.6	0.57074	Crontonase, C-terminal (1);	0.062102	0.64402	D	0.000005	T	0.80560	0.4646	H	0.98048	4.135	0.58432	D	0.999997	D	0.76494	0.999	D	0.72075	0.976	D	0.85013	0.0907	10	0.87932	D	0	.	9.8922	0.41296	0.0:0.9068:0.0:0.0932	.	278	P30084	ECHM_HUMAN	T	278	ENSP00000357535:A278T	ENSP00000357535:A278T	A	-	1	0	ECHS1	135026403	1.000000	0.71417	0.004000	0.12327	0.019000	0.09904	6.101000	0.71479	1.323000	0.45263	0.650000	0.86243	GCG		0.542	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			22	43	0	0	0	1	0	22	43				
XIST	7503	broad.mit.edu	37	X	73064087	73064087	+	lincRNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73064087A>C	ENST00000429829.1	-	0	8501					NR_001564.2				X inactive specific transcript (non-protein coding)																		AATTAGGATGAACCATGTGGT	0.393																																						ENST00000429829.1																			0																				251.0	232.0	238.0					X																	73064087		876	1991	2867			0							g.chrX:73064087A>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064087A>C								NR_001564.2						0	8501	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.393	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		14	200	0	0	0	1	0	14	200				
VLDLR	7436	broad.mit.edu	37	9	2646507	2646507	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2646507C>A	ENST00000382100.3	+	11	2014	c.1658C>A	c.(1657-1659)tCt>tAt	p.S553Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.S553Y|VLDLR_ENST00000478776.1_3'UTR	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	553					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTGTTTAACTCTGACTTGCGA	0.473																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1657-1659)tCt>tAt		very low density lipoprotein receptor							102.0	97.0	99.0					9																	2646507		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2646507C>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1658C>A	9.37:g.2646507C>A	ENSP00000371532:p.Ser553Tyr					VLDLR_ENST00000382099.2_Missense_Mutation_p.S553Y|VLDLR_ENST00000478776.1_3'UTR	p.S553Y	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	11	2014	+			553					B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1658C>A	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930451	0.52866	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.95412	-3.7;-3.7	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.49916	D	0.000124	D	0.97932	0.9320	M	0.88450	2.955	0.53005	D	0.999962	D;D;D	0.58970	0.98;0.984;0.971	P;D;P	0.63381	0.861;0.914;0.861	D	0.98057	1.0391	10	0.56958	D	0.05	.	19.6657	0.95891	0.0:1.0:0.0:0.0	.	553;553;553	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	Y	553;553;432	ENSP00000371532:S553Y;ENSP00000371531:S553Y	ENSP00000371524:S432Y	S	+	2	0	VLDLR	2636507	0.901000	0.30685	0.969000	0.41365	0.525000	0.34531	2.595000	0.46197	2.733000	0.93635	0.555000	0.69702	TCT		0.473	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		5	39	1	0	0.000602214	1	0.000649039	5	39				
RPS6KA1	6195	broad.mit.edu	37	1	26888068	26888068	+	Missense_Mutation	SNP	C	C	A	rs138370781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26888068C>A	ENST00000374168.2	+	17	1658	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.L410M|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.L511M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.L491M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.L410M|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.L486M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	502	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGACAAGATCCTGCGGCAGAA	0.557																																						ENST00000374168.2																			0				lung(1)	1						c.(1504-1506)Ctg>Atg		ribosomal protein S6 kinase, 90kDa, polypeptide 1		C	MET/LEU,MET/LEU	1,4405	2.1+/-5.4	0,1,2202	162.0	147.0	152.0		1531,1504	4.0	1.0	1	dbSNP_134	152	0,8600		0,0,4300	no	missense,missense	RPS6KA1	NM_001006665.1,NM_002953.3	15,15	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	511/745,502/736	26888068	1,13005	2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26888068C>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1504C>A	1.37:g.26888068C>A	ENSP00000363283:p.Leu502Met					RPS6KA1_ENST00000374162.2_Missense_Mutation_p.L410M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.L491M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.L410M|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.L511M|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.L486M	p.L502M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	17	1658	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	502			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1504C>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933278	0.73442	2.27E-4	0.0	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.84	3.98	0.46160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	L	0.52573	1.65	0.80722	D	1	D;P;D	0.67145	0.996;0.872;0.99	D;P;D	0.85130	0.995;0.765;0.997	T	0.74503	-0.3644	10	0.87932	D	0	.	12.681	0.56922	0.0:0.8666:0.0:0.1334	.	486;511;502	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	M	502;491;410;410;486;180;511;118	ENSP00000363283:L502M;ENSP00000363281:L491M;ENSP00000431651:L410M;ENSP00000363277:L410M;ENSP00000432281:L486M;ENSP00000435412:L511M;ENSP00000383967:L118M	ENSP00000363277:L410M	L	+	1	2	RPS6KA1	26760655	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	4.025000	0.57225	0.832000	0.34804	-0.140000	0.14226	CTG		0.557	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		10	84	1	0	1.76689e-08	1	2.11513e-08	10	84				
PCDHGA9	56107	broad.mit.edu	37	5	140784723	140784723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140784723T>C	ENST00000573521.1	+	1	2204	c.2204T>C	c.(2203-2205)gTg>gCg	p.V735A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	735					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTGGTGTGCCCACCTCA	0.572																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2203-2205)gTg>gCg									68.0	76.0	73.0					5																	140784723		2181	4289	6470	SO:0001583	missense	0							g.chr5:140784723T>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2204T>C	5.37:g.140784723T>C	ENSP00000460274:p.Val735Ala					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V735A	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2204	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2204T>C	CCDS58981.1																																																																																				0.572	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		21	22	0	0	0	1	0	21	22				
ZNF41	7592	broad.mit.edu	37	X	47308164	47308164	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47308164G>T	ENST00000377065.4	-	5	1644	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.V345V|ZNF41_ENST00000313116.7_Silent_p.V335V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAGGGTAAAGACTTTCCCAC	0.408																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1003-1005)gtC>gtA		zinc finger protein 41							61.0	63.0	62.0					X																	47308164		2203	4293	6496	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308164G>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1005C>A	X.37:g.47308164G>T						ZNF41_ENST00000397050.2_Silent_p.V345V|ZNF41_ENST00000313116.7_Silent_p.V335V	p.V335V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1644	-		all_lung(315;0.000129)	377					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.1005C>A	CCDS14279.1																																																																																				0.408	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		35	105	1	0	2.1956e-27	1	2.92967e-27	35	105				
ZNF366	167465	broad.mit.edu	37	5	71739898	71739898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739898C>A	ENST00000318442.5	-	5	2410	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	640	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCAGAGCTGCTGGCTCTGGG	0.652																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1918-1920)caG>caT		zinc finger protein 366							110.0	123.0	119.0					5																	71739898		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739898C>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1920G>T	5.37:g.71739898C>A	ENSP00000313158:p.Gln640His						p.Q640H	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2410	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	640					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1920G>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171254	0.21621	.	.	ENSG00000178175	ENST00000318442	T	0.09163	3.01	5.5	1.53	0.23141	.	1.889170	0.02438	N	0.084304	T	0.08403	0.0209	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31503	-0.9941	10	0.29301	T	0.29	-8.1688	6.5179	0.22258	0.0:0.3888:0.3777:0.2335	.	640	Q8N895	ZN366_HUMAN	H	640	ENSP00000313158:Q640H	ENSP00000313158:Q640H	Q	-	3	2	ZNF366	71775654	0.001000	0.12720	0.020000	0.16555	0.079000	0.17450	0.346000	0.19997	0.380000	0.24823	-0.137000	0.14449	CAG		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			27	192	1	0	1.42536e-11	1	1.77909e-11	27	192				
BLVRA	644	broad.mit.edu	37	7	43846772	43846772	+	Missense_Mutation	SNP	C	C	T	rs138692014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43846772C>T	ENST00000402924.1	+	9	992	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	BLVRA_ENST00000265523.4_Missense_Mutation_p.R277C	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	277					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGAAAAGAAACGCATCCTGCA	0.438													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18745	0.0		0.001	False		,,,				2504	0.0					ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(829-831)Cgc>Tgc		biliverdin reductase A	NADH(DB00157)	C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	62.0	62.0	62.0		829	3.5	0.9	7	dbSNP_134	62	3,8597	3.0+/-9.4	0,3,4297	yes	missense	BLVRA	NM_000712.3	180	0,6,6497	TT,TC,CC		0.0349,0.0681,0.0461	benign	277/297	43846772	6,13000	2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43846772C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.829C>T	7.37:g.43846772C>T	ENSP00000385757:p.Arg277Cys					BLVRA_ENST00000265523.4_Missense_Mutation_p.R277C	p.R277C	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			9	992	+			277					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.829C>T	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109758	0.37242	6.81E-4	3.49E-4	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.35605	1.3;1.3	4.38	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	M	0.70275	2.135	0.54753	D	0.999986	B	0.26512	0.151	B	0.15484	0.013	T	0.32428	-0.9907	10	0.72032	D	0.01	.	11.7658	0.51930	0.177:0.823:0.0:0.0	.	277	P53004	BIEA_HUMAN	C	277	ENSP00000265523:R277C;ENSP00000385757:R277C	ENSP00000265523:R277C	R	+	1	0	BLVRA	43813297	0.911000	0.30947	0.879000	0.34478	0.955000	0.61496	1.581000	0.36558	0.927000	0.37143	0.561000	0.74099	CGC		0.438	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		20	55	0	0	0	1	0	20	55				
CTBP1	1487	broad.mit.edu	37	4	1206156	1206156	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1206156C>A	ENST00000290921.6	-	9	1376	c.1195G>T	c.(1195-1197)Ggt>Tgt	p.G399C	CTBP1_ENST00000382952.3_Missense_Mutation_p.G388C	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	399					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGGACGATACCTTCCACAGCA	0.711																																						ENST00000382952.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(1162-1164)Ggt>Tgt		C-terminal binding protein 1							20.0	19.0	19.0					4																	1206156		2173	4281	6454	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206156C>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1195G>T	4.37:g.1206156C>A	ENSP00000290921:p.Gly399Cys					CTBP1_ENST00000290921.6_Missense_Mutation_p.G399C	p.G388C	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	10	1546	-			399					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.1162G>T	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.20|14.20	2.465785|2.465785	0.43839|0.43839	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921|ENST00000503594;ENST00000504092	D;D|.	0.84944|.	-1.88;-1.92|.	4.21|4.21	3.36|3.36	0.38483|0.38483	.|.	0.060678|.	0.64402|.	D|.	0.000003|.	T|T	0.62600|0.62600	0.2441|0.2441	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.98;0.98|.	T|T	0.59402|0.59402	-0.7461|-0.7461	10|5	0.72032|.	D|.	0.01|.	-21.5304|-21.5304	11.8665|11.8665	0.52496|0.52496	0.0:0.9131:0.0:0.0869|0.0:0.9131:0.0:0.0869	.|.	186;399;388|.	Q6IP95;Q13363;Q7Z2Q5|.	.;CTBP1_HUMAN;.|.	C|M	388;399|142;245	ENSP00000372411:G388C;ENSP00000290921:G399C|.	ENSP00000290921:G399C|.	G|R	-|-	1|2	0|0	CTBP1|CTBP1	1196156|1196156	1.000000|1.000000	0.71417|0.71417	0.379000|0.379000	0.26080|0.26080	0.033000|0.033000	0.12548|0.12548	7.000000|7.000000	0.76290|0.76290	0.764000|0.764000	0.33197|0.33197	0.491000|0.491000	0.48974|0.48974	GGT|AGG		0.711	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		3	1	1	0	0.150653	1	0.152692	3	1				
BTNL8	79908	broad.mit.edu	37	5	180377169	180377169	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180377169G>A	ENST00000340184.4	+	8	1334	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	BTNL8_ENST00000400707.3_Silent_p.G251G|BTNL8_ENST00000505126.1_Silent_p.G169G|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.G260G|BTNL8_ENST00000533815.2_Silent_p.G192G	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	376	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATCATGGGTACTGGGTCC	0.517																																						ENST00000340184.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1126-1128)ggG>ggA		butyrophilin-like 8							125.0	122.0	123.0					5																	180377169		2090	3891	5981	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180377169G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1128G>A	5.37:g.180377169G>A						BTNL8_ENST00000400707.3_Silent_p.G251G|BTNL8_ENST00000511704.1_Silent_p.G260G|BTNL8_ENST00000505126.1_Silent_p.G169G|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Silent_p.G192G|BTNL8_ENST00000231229.4_3'UTR	p.G376G	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1334	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	376			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.1128G>A	CCDS43413.1																																																																																				0.517	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		18	33	0	0	0	1	0	18	33				
ZNF512B	57473	broad.mit.edu	37	20	62597978	62597978	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62597978G>A	ENST00000450537.1	-	5	610	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAACAGGCCGGCTGATGGTG	0.597																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(550-552)Cgg>Tgg		zinc finger protein 512B							65.0	67.0	67.0					20																	62597978		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597978G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.550C>T	20.37:g.62597978G>A	ENSP00000393795:p.Arg184Trp					ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184W	p.R184W			Q96KM6	Z512B_HUMAN			5	610	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		184					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.550C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570105	0.86542	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	5.67	4.67	0.58626	.	0.316289	0.22973	N	0.053408	T	0.35189	0.0923	L	0.53249	1.67	0.35146	D	0.769318	D	0.69078	0.997	P	0.53490	0.727	T	0.47484	-0.9114	10	0.72032	D	0.01	-16.5295	10.4846	0.44713	0.0:0.0:0.6827:0.3173	.	184	Q96KM6	Z512B_HUMAN	W	184	ENSP00000358904:R184W;ENSP00000393795:R184W;ENSP00000217130:R184W	ENSP00000217130:R184W	R	-	1	2	ZNF512B	62068422	0.044000	0.20184	0.998000	0.56505	0.963000	0.63663	-0.232000	0.09055	2.680000	0.91292	0.585000	0.79938	CGG		0.597	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		30	43	0	0	0	1	0	30	43				
FAT4	79633	broad.mit.edu	37	4	126337763	126337763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337763C>T	ENST00000394329.3	+	6	7017	c.7004C>T	c.(7003-7005)aCa>aTa	p.T2335I	FAT4_ENST00000335110.5_Missense_Mutation_p.T633I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2335	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGATTACAGCTACAGAT	0.453																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7003-7005)aCa>aTa		FAT atypical cadherin 4							207.0	199.0	202.0					4																	126337763		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337763C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7004C>T	4.37:g.126337763C>T	ENSP00000377862:p.Thr2335Ile					FAT4_ENST00000335110.5_Missense_Mutation_p.T633I	p.T2335I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	7017	+			2335			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7004C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013513	0.35511	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02446	4.29;4.29	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.33670	U	0.004680	T	0.08670	0.0215	N	0.25286	0.73	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	T	0.48948	-0.8989	10	0.37606	T	0.19	.	19.0466	0.93022	0.0:1.0:0.0:0.0	.	633;2335	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	2335;633	ENSP00000377862:T2335I;ENSP00000335169:T633I	ENSP00000335169:T633I	T	+	2	0	FAT4	126557213	1.000000	0.71417	0.996000	0.52242	0.087000	0.18053	4.768000	0.62293	2.493000	0.84123	0.637000	0.83480	ACA		0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	149	0	0	0	1	0	7	149				
TNFRSF8	943	broad.mit.edu	37	1	12170199	12170199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12170199C>T	ENST00000263932.2	+	6	836	c.614C>T	c.(613-615)gCt>gTt	p.A205V	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.A94V	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	205					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CAGGAAGCTGCTTCTAAACTG	0.637																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(613-615)gCt>gTt		tumor necrosis factor receptor superfamily, member 8							51.0	46.0	48.0					1																	12170199		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12170199C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.614C>T	1.37:g.12170199C>T	ENSP00000263932:p.Ala205Val					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.A94V	p.A205V	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	836	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	205					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.614C>T	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	15.44	2.833050	0.50951	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.07567	3.18;3.18	4.09	3.15	0.36227	.	169.104000	0.00166	N	0.000000	T	0.14227	0.0344	L	0.43152	1.355	0.09310	N	1	P;P	0.46064	0.872;0.759	P;B	0.48598	0.583;0.261	T	0.21965	-1.0230	10	0.23302	T	0.38	-0.1768	8.7479	0.34598	0.2659:0.7341:0.0:0.0	.	94;205	D3YTD8;P28908	.;TNR8_HUMAN	V	205;94	ENSP00000263932:A205V;ENSP00000390650:A94V	ENSP00000263932:A205V	A	+	2	0	TNFRSF8	12092786	0.034000	0.19679	0.021000	0.16686	0.034000	0.12701	0.902000	0.28459	1.252000	0.44001	0.585000	0.79938	GCT		0.637	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			11	28	0	0	0	1	0	11	28				
AMIGO1	57463	broad.mit.edu	37	1	110050768	110050768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050768G>T	ENST00000369864.4	-	2	1116	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	AMIGO1_ENST00000369862.1_Missense_Mutation_p.S256Y					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTTCTTGGAGTTCATGCA	0.527																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(766-768)tCc>tAc		adhesion molecule with Ig-like domain 1							95.0	96.0	96.0					1																	110050768		2203	4300	6503	SO:0001583	missense	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050768G>T		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.767C>A	1.37:g.110050768G>T	ENSP00000358880:p.Ser256Tyr					AMIGO1_ENST00000369862.1_Missense_Mutation_p.S256Y	p.S256Y			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1116	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	256			LRRCT.			Missense_Mutation	SNP	ENST00000369864.4	37	c.767C>A	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	G	9.414	1.081243	0.20309	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.02395	4.31;4.31	5.75	4.84	0.62591	Cysteine-rich flanking region, C-terminal (1);	0.358553	0.24693	N	0.036361	T	0.01421	0.0046	L	0.43152	1.355	0.37483	D	0.916083	B	0.20780	0.048	B	0.15870	0.014	T	0.39981	-0.9587	10	0.72032	D	0.01	-8.0133	10.2567	0.43401	0.1586:0.0:0.8414:0.0	.	256	Q86WK6	AMGO1_HUMAN	Y	256	ENSP00000358880:S256Y;ENSP00000358878:S256Y	ENSP00000358878:S256Y	S	-	2	0	AMIGO1	109852291	0.984000	0.35163	0.987000	0.45799	0.962000	0.63368	3.213000	0.51153	1.430000	0.47334	0.650000	0.86243	TCC		0.527	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		6	108	1	0	0.00116845	1	0.00124821	6	108				
OR6C3	254786	broad.mit.edu	37	12	55725688	55725688	+	Silent	SNP	C	C	A	rs370445947		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55725688C>A	ENST00000379667.1	+	1	204	c.204C>A	c.(202-204)atC>atA	p.I68I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	68					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCTTAGAAATCTCATTTACAA	0.418																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(202-204)atC>atA		olfactory receptor, family 6, subfamily C, member 3							100.0	110.0	107.0					12																	55725688		2203	4300	6503	SO:0001819	synonymous_variant	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725688C>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.204C>A	12.37:g.55725688C>A							p.I68I	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	204	+			68						Silent	SNP	ENST00000379667.1	37	c.204C>A	CCDS31819.1																																																																																				0.418	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			38	81	1	0	1.90571e-15	1	2.44502e-15	38	81				
MN1	4330	broad.mit.edu	37	22	28193733	28193733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193733C>T	ENST00000302326.4	-	1	3753	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	933					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGAGACCGGCTTGCCGTCAT	0.687			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2797-2799)aaG>aaA		meningioma (disrupted in balanced translocation) 1							10.0	13.0	12.0					22																	28193733		1813	3981	5794	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193733C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2799G>A	22.37:g.28193733C>T							p.K933K	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3753	-			933					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2799G>A	CCDS42998.1																																																																																				0.687	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	7	0	0	0	1	0	7	7				
ZNF799	90576	broad.mit.edu	37	19	12502896	12502896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12502896G>A	ENST00000430385.3	-	4	516	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R106C|ZNF799_ENST00000419318.1_Missense_Mutation_p.R74C|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCACTCATACGGCTTTCATAT	0.413																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(220-222)Cgt>Tgt		zinc finger protein 799							152.0	139.0	143.0					19																	12502896		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502896G>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.316C>T	19.37:g.12502896G>A	ENSP00000411084:p.Arg106Cys					CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R106C|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.R106C	p.R74C			Q96GE5	ZN799_HUMAN			4	969	-			106			KRAB.			Missense_Mutation	SNP	ENST00000430385.3	37	c.220C>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163127	0.38217	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08282	3.11;3.23	1.31	0.134	0.14771	.	.	.	.	.	T	0.06735	0.0172	L	0.43152	1.355	0.09310	N	1	B	0.21147	0.052	B	0.11329	0.006	T	0.38908	-0.9639	9	0.66056	D	0.02	.	2.1975	0.03915	0.2891:0.0:0.2942:0.4167	.	106	Q96GE5	ZN799_HUMAN	C	74;106	ENSP00000415278:R74C;ENSP00000411084:R106C	ENSP00000415278:R74C	R	-	1	0	ZNF799	12363896	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.062000	0.11674	-0.502000	0.06596	-0.722000	0.03604	CGT		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		30	51	0	0	0	1	0	30	51				
C2orf78	388960	broad.mit.edu	37	2	74042505	74042505	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74042505T>A	ENST00000409561.1	+	3	1276	c.1155T>A	c.(1153-1155)ccT>ccA	p.P385P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	385										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCAAGATCCTCCACTACTTC	0.438																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1153-1155)ccT>ccA		chromosome 2 open reading frame 78							40.0	40.0	40.0					2																	74042505		1843	4090	5933	SO:0001819	synonymous_variant	388960							g.chr2:74042505T>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1155T>A	2.37:g.74042505T>A							p.P385P	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	1276	+			385						Silent	SNP	ENST00000409561.1	37	c.1155T>A	CCDS46338.1																																																																																				0.438	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		12	25	0	0	0	1	0	12	25				
XAB2	56949	broad.mit.edu	37	19	7684859	7684859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684859C>T	ENST00000358368.4	-	17	2406	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	XAB2_ENST00000534844.1_Missense_Mutation_p.R787H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	790					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTCTGGGCGCGCAAGGGCTG	0.672								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(2368-2370)cGc>cAc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							39.0	40.0	40.0					19																	7684859		2203	4297	6500	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7684859C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2369G>A	19.37:g.7684859C>T	ENSP00000351137:p.Arg790His					XAB2_ENST00000534844.1_Missense_Mutation_p.R787H	p.R790H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			17	2406	-			790					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2369G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278210	0.23307	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.23552	1.9;1.9	4.67	4.67	0.58626	.	0.144796	0.44902	D	0.000404	T	0.22704	0.0548	L	0.46157	1.445	0.09310	N	1	P	0.47762	0.9	B	0.41202	0.35	T	0.18178	-1.0345	10	0.46703	T	0.11	-30.451	10.0968	0.42480	0.0:0.9049:0.0:0.0951	.	790	Q9HCS7	SYF1_HUMAN	H	790;787	ENSP00000351137:R790H;ENSP00000438225:R787H	ENSP00000351137:R790H	R	-	2	0	XAB2	7590859	0.686000	0.27661	0.200000	0.23457	0.042000	0.13812	4.085000	0.57657	2.155000	0.67459	0.305000	0.20034	CGC		0.672	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		17	28	0	0	0	1	0	17	28				
MTMR14	64419	broad.mit.edu	37	3	9704045	9704045	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9704045C>A	ENST00000296003.4	+	3	525	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.L135M|MTMR14_ENST00000353332.5_Missense_Mutation_p.L135M	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	135					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCCAGTAATCCTGTTCAAGGG	0.512																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(403-405)Ctg>Atg		myotubularin related protein 14							95.0	95.0	95.0					3																	9704045		2013	4180	6193	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9704045C>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.403C>A	3.37:g.9704045C>A	ENSP00000296003:p.Leu135Met					MTMR14_ENST00000351233.5_Missense_Mutation_p.L135M|MTMR14_ENST00000353332.5_Missense_Mutation_p.L135M|MTMR14_ENST00000420925.1_Intron	p.L135M	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			3	525	+	Medulloblastoma(99;0.227)		135					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.403C>A	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363078	0.82353	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	T;T;T	0.24723	1.84;1.84;1.84	5.82	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.60455	1.87	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.994;0.98	T	0.45629	-0.9248	10	0.56958	D	0.05	-1.2103	14.5324	0.67936	0.0:0.929:0.0:0.071	.	135;135;135	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	M	135	ENSP00000323462:L135M;ENSP00000296003:L135M;ENSP00000334070:L135M	ENSP00000296003:L135M	L	+	1	2	MTMR14	9679045	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.464000	0.60134	1.477000	0.48234	0.650000	0.86243	CTG		0.512	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		4	48	1	0	0.184627	1	0.186383	4	48				
PLB1	151056	broad.mit.edu	37	2	28762004	28762004	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28762004G>T	ENST00000327757.5	+	11	701	c.657G>T	c.(655-657)gaG>gaT	p.E219D	PLB1_ENST00000422425.2_Missense_Mutation_p.E230D	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	219	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCTCTCTGAGGTTGCAGAGG	0.562																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(688-690)gaG>gaT		phospholipase B1							122.0	101.0	108.0					2																	28762004		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28762004G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.657G>T	2.37:g.28762004G>T	ENSP00000330442:p.Glu219Asp					PLB1_ENST00000327757.5_Missense_Mutation_p.E219D	p.E230D	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			11	734	+	Acute lymphoblastic leukemia(172;0.155)		219			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.690G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.037821|4.037821	0.75617|0.75617	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425|ENST00000404858	T;T;T|.	0.23754|.	1.89;2.54;2.44|.	5.31|5.31	3.46|3.46	0.39613|0.39613	.|.	0.424454|.	0.23513|.	N|.	0.047365|.	T|T	0.40347|0.40347	0.1113|0.1113	L|L	0.50333|0.50333	1.59|1.59	0.19300|0.19300	N|N	0.999979|0.999979	D;B|.	0.76494|.	0.999;0.217|.	D;B|.	0.68483|.	0.958;0.093|.	T|T	0.26360|0.26360	-1.0105|-1.0105	10|5	0.12103|.	T|.	0.63|.	-5.0255|-5.0255	6.552|6.552	0.22440|0.22440	0.0926:0.0:0.7297:0.1777|0.0926:0.0:0.7297:0.1777	.|.	230;219|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	D|M	174;219;230|229	ENSP00000407076:E174D;ENSP00000330442:E219D;ENSP00000416440:E230D|.	ENSP00000330442:E219D|.	E|R	+|+	3|2	2|0	PLB1|PLB1	28615508|28615508	0.262000|0.262000	0.24073|0.24073	0.002000|0.002000	0.10522|0.10522	0.646000|0.646000	0.38490|0.38490	0.434000|0.434000	0.21494|0.21494	0.575000|0.575000	0.29434|0.29434	0.591000|0.591000	0.81541|0.81541	GAG|AGG		0.562	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			6	54	1	0	0.248553	1	0.25002	6	54				
GJA1	2697	broad.mit.edu	37	6	121768052	121768052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768052C>T	ENST00000282561.3	+	2	216	c.59C>T	c.(58-60)gCt>gTt	p.A20V		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	20					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TACTCAACTGCTGGAGGGAAG	0.522																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(58-60)gCt>gTt		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						126.0	124.0	125.0					6																	121768052		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768052C>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.59C>T	6.37:g.121768052C>T	ENSP00000282561:p.Ala20Val						p.A20V	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	216	+			20					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.59C>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607949	0.46527	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.98987	-5.3	6.16	6.16	0.99307	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	N	0.03881	-0.34	0.80722	D	1	B	0.27013	0.166	B	0.28991	0.097	D	0.91224	0.5009	10	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	20	P17302	CXA1_HUMAN	V	20	ENSP00000282561:A20V	ENSP00000282561:A20V	A	+	2	0	GJA1	121809751	1.000000	0.71417	0.587000	0.28692	0.782000	0.44232	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	GCT		0.522	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		50	65	0	0	0	1	0	50	65				
TEX13A	56157	broad.mit.edu	37	X	104465051	104465051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104465051C>T	ENST00000413579.1	-	2	142	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G11R|TEX13A_ENST00000372578.3_Missense_Mutation_p.G11R|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	11							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCCGGAACCCGCTACTGGGG	0.537																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(31-33)Ggg>Agg		testis expressed 13A							44.0	43.0	43.0					X																	104465051		2203	4300	6503	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104465051C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.31G>A	X.37:g.104465051C>T	ENSP00000399753:p.Gly11Arg					TEX13A_ENST00000372575.1_Missense_Mutation_p.G11R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.G11R	p.G11R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	142	-			11					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	C	14.62	2.589398	0.46214	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.48	2.61	0.31194	.	0.000000	0.35179	N	0.003395	T	0.56877	0.2015	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43893	-0.9363	8	0.87932	D	0	.	5.8254	0.18550	0.0:0.8501:0.0:0.1499	.	11;11	C9JWK0;Q9BXU3	.;TX13A_HUMAN	R	11	.	ENSP00000361656:G11R	G	-	1	0	TEX13A	104351707	0.345000	0.24835	0.008000	0.14137	0.009000	0.06853	2.676000	0.46883	0.843000	0.35070	0.506000	0.49869	GGG		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		13	22	0	0	0	1	0	13	22				
KCNH7	90134	broad.mit.edu	37	2	163291736	163291736	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291736G>T	ENST00000332142.5	-	8	2025	c.1926C>A	c.(1924-1926)atC>atA	p.I642I	KCNH7_ENST00000328032.4_Silent_p.I635I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	642					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.I635I(1)|p.I642I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAATTGAAAAGATTTTCTCCG	0.333																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			2	Substitution - coding silent(2)	p.I635I(1)|p.I642I(1)	lung(2)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1924-1926)atC>atA		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						109.0	104.0	106.0					2																	163291736		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291736G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1926C>A	2.37:g.163291736G>T						KCNH7_ENST00000328032.4_Silent_p.I635I	p.I642I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	2025	-			642					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1926C>A	CCDS2219.1																																																																																				0.333	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		10	66	1	0	0.00010058	1	0.000111121	10	66				
TSSK2	23617	broad.mit.edu	37	22	19119140	19119140	+	Silent	SNP	C	C	T	rs150544486		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119140C>T	ENST00000399635.2	+	1	820	c.228C>T	c.(226-228)taC>taT	p.Y76Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGACTTACGAGATCTTTG	0.537																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(226-228)taC>taT		testis-specific serine kinase 2		C	,	1,4405	2.1+/-5.4	0,1,2202	77.0	64.0	68.0		,228	-1.8	1.0	22	dbSNP_134	68	0,8600	1.2+/-3.3	0,0,4300	no	utr-3,coding-synonymous	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,76/359	19119140	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119140C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.228C>T	22.37:g.19119140C>T						DGCR14_ENST00000252137.6_3'UTR	p.Y76Y	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	820	+	Colorectal(54;0.0993)		76			Protein kinase.		Q8IY55	Silent	SNP	ENST00000399635.2	37	c.228C>T	CCDS13755.1																																																																																				0.537	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			4	31	0	0	0	1	0	4	31				
FAT3	120114	broad.mit.edu	37	11	92087394	92087394	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92087394C>G	ENST00000298047.6	+	1	2133	c.2116C>G	c.(2116-2118)Ctg>Gtg	p.L706V	FAT3_ENST00000541502.1_Missense_Mutation_p.L706V|FAT3_ENST00000409404.2_Missense_Mutation_p.L706V|FAT3_ENST00000525166.1_Missense_Mutation_p.L556V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	706					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGGGAAACTGAATCTGGA	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2116-2118)Ctg>Gtg		FAT atypical cadherin 3							133.0	137.0	136.0					11																	92087394		1845	4098	5943	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087394C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2116C>G	11.37:g.92087394C>G	ENSP00000298047:p.Leu706Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.L706V|FAT3_ENST00000525166.1_Missense_Mutation_p.L556V|FAT3_ENST00000409404.2_Missense_Mutation_p.L706V	p.L706V			Q8TDW7	FAT3_HUMAN			1	2133	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	706					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2116C>G		.	.	.	.	.	.	.	.	.	.	C	7.223	0.597824	0.13875	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.47	3.6	0.41247	.	.	.	.	.	T	0.34164	0.0888	L	0.34521	1.04	0.25650	N	0.986105	P	0.39696	0.683	B	0.37692	0.256	T	0.08911	-1.0699	9	0.27785	T	0.31	.	8.1733	0.31268	0.0:0.6986:0.0:0.3014	.	706	Q8TDW7-3	.	V	706;706;706;556	ENSP00000298047:L706V;ENSP00000387040:L706V;ENSP00000443786:L706V;ENSP00000432586:L556V	ENSP00000298047:L706V	L	+	1	2	FAT3	91727042	0.033000	0.19621	0.974000	0.42286	0.994000	0.84299	0.314000	0.19432	1.307000	0.44944	0.467000	0.42956	CTG		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	126	0	0	0	1	0	6	126				
ASPM	259266	broad.mit.edu	37	1	197059134	197059134	+	Nonsense_Mutation	SNP	G	G	A	rs587783295		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197059134G>A	ENST00000367409.4	-	25	10166	c.9910C>T	c.(9910-9912)Cga>Tga	p.R3304*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1719*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.R969*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3304					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACAACTTCGGATCAAAACA	0.343																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9910-9912)Cga>Tga		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							62.0	65.0	64.0					1																	197059134		2203	4300	6503	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197059134G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9910C>T	1.37:g.197059134G>A	ENSP00000356379:p.Arg3304*					ASPM_ENST00000367408.1_Nonsense_Mutation_p.R969*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1719*	p.R3304*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			25	10166	-			3304					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.9910C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	52	19.555439	0.99921	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	.	.	.	5.75	4.84	0.62591	.	0.172534	0.36555	N	0.002535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9317	0.70919	0.0689:0.0:0.9311:0.0	.	.	.	.	X	3304;1719;969;1290	.	ENSP00000294732:R1719X	R	-	1	2	ASPM	195325757	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.704000	0.61831	1.426000	0.47256	-0.150000	0.13652	CGA		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		30	55	0	0	0	1	0	30	55				
ABRA	137735	broad.mit.edu	37	8	107781845	107781845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107781845C>A	ENST00000311955.3	-	1	628	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCGCTGTCCTCTGTGTCTACG	0.602																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(574-576)Gag>Tag		actin-binding Rho activating protein							202.0	198.0	199.0					8																	107781845		2203	4300	6503	SO:0001587	stop_gained	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107781845C>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.574G>T	8.37:g.107781845C>A	ENSP00000311436:p.Glu192*						p.E192*	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	628	-			192						Nonsense_Mutation	SNP	ENST00000311955.3	37	c.574G>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285895	0.95517	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	6.07	0.98685	.	0.044822	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.8893	17.5216	0.87789	0.0:0.8766:0.1234:0.0	.	.	.	.	X	192	.	ENSP00000311436:E192X	E	-	1	0	ABRA	107851021	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	4.603000	0.61105	2.884000	0.98904	0.655000	0.94253	GAG		0.602	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		85	136	1	0	8.45761e-33	1	1.13538e-32	85	136				
SACS	26278	broad.mit.edu	37	13	23905037	23905037	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905037T>G	ENST00000382292.3	-	9	13251	c.12978A>C	c.(12976-12978)aaA>aaC	p.K4326N	SACS_ENST00000382298.3_Missense_Mutation_p.K4326N|SACS_ENST00000402364.1_Missense_Mutation_p.K3576N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4326	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATAATCTTTTTTCGTTCCG	0.373																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12976-12978)aaA>aaC		spastic ataxia of Charlevoix-Saguenay (sacsin)							113.0	123.0	120.0					13																	23905037		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905037T>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12978A>C	13.37:g.23905037T>G	ENSP00000371729:p.Lys4326Asn					SACS_ENST00000382292.3_Missense_Mutation_p.K4326N|SACS_ENST00000402364.1_Missense_Mutation_p.K3576N	p.K4326N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13566	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4326			J.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12978A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419424	0.62622	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87412	-2.25;-2.25;-2.25	5.83	-0.883	0.10600	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	M	0.83774	2.66	0.44719	D	0.997712	D	0.76494	0.999	D	0.80764	0.994	D	0.89580	0.3820	10	0.42905	T	0.14	.	12.1973	0.54305	0.0:0.4412:0.0:0.5588	.	4326	Q9NZJ4	SACS_HUMAN	N	4326;3576;4326	ENSP00000371729:K4326N;ENSP00000385844:K3576N;ENSP00000371735:K4326N	ENSP00000371729:K4326N	K	-	3	2	SACS	22803037	0.996000	0.38824	0.990000	0.47175	0.988000	0.76386	0.364000	0.20325	-0.348000	0.08286	0.460000	0.39030	AAA		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	186	0	0	0	1	0	7	186				
DCUN1D2	55208	broad.mit.edu	37	13	114135036	114135036	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114135036A>G	ENST00000478244.1	-	3	525	c.243T>C	c.(241-243)atT>atC	p.I81I	DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Silent_p.I81I|DCUN1D2_ENST00000460318.1_5'UTR|RNU1-16P_ENST00000365477.1_RNA	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	81	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CATCGACTCCAATTTTGTTTT	0.393																																						ENST00000478244.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(241-243)atT>atC		DCN1, defective in cullin neddylation 1, domain containing 2							131.0	108.0	116.0					13																	114135036		2203	4300	6503	SO:0001819	synonymous_variant	55208							g.chr13:114135036A>G	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.243T>C	13.37:g.114135036A>G						DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Silent_p.I81I	p.I81I	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		3	525	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	81			DCUN1.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Silent	SNP	ENST00000478244.1	37	c.243T>C	CCDS32013.1																																																																																				0.393	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		9	80	0	0	0	1	0	9	80				
TIPRL	261726	broad.mit.edu	37	1	168160619	168160619	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168160619A>C	ENST00000367833.2	+	4	542	c.397A>C	c.(397-399)Aca>Cca	p.T133P	TIPRL_ENST00000367830.3_Missense_Mutation_p.T133P	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	133					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGTACCTACAACAGATCATAT	0.328																																						ENST00000367833.2																			0				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6						c.(397-399)Aca>Cca		TIP41, TOR signaling pathway regulator-like (S. cerevisiae)							51.0	58.0	56.0					1																	168160619		2202	4297	6499	SO:0001583	missense	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168160619A>C	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.397A>C	1.37:g.168160619A>C	ENSP00000356807:p.Thr133Pro					TIPRL_ENST00000367830.3_Missense_Mutation_p.T133P	p.T133P	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN			4	542	+	all_hematologic(923;0.215)		133					B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	c.397A>C	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138978	0.56936	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	4.96	4.96	0.65561	.	0.197709	0.53938	D	0.000049	T	0.59542	0.2201	M	0.77103	2.36	0.45118	D	0.998130	D;P	0.54397	0.966;0.744	P;B	0.52109	0.69;0.439	T	0.65294	-0.6203	8	0.41790	T	0.15	-38.5585	14.4965	0.67691	1.0:0.0:0.0:0.0	.	133;133	O75663;O75663-2	TIPRL_HUMAN;.	P	133	.	ENSP00000356804:T133P	T	+	1	0	TIPRL	166427243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.048000	0.49862	2.087000	0.62958	0.455000	0.32223	ACA		0.328	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		14	119	0	0	0	1	0	14	119				
MATK	4145	broad.mit.edu	37	19	3779617	3779617	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3779617T>C	ENST00000310132.6	-	10	1241		c.e10-2		MATK_ENST00000395040.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395045.2_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCATCTTCCTGGGGGCGGTG	0.692																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.e10-2		megakaryocyte-associated tyrosine kinase							20.0	21.0	21.0					19																	3779617		2200	4298	6498	SO:0001630	splice_region_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779617T>C	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.843-2A>G	19.37:g.3779617T>C						MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395040.2_Splice_Site|MATK_ENST00000395045.2_Splice_Site		NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1241	-		Hepatocellular(1079;0.137)						B3KNZ9|Q9NST8	Splice_Site	SNP	ENST00000310132.6	37		CCDS12114.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010194	0.54361	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9649	0.53029	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MATK	3730617	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.329000	0.79170	1.485000	0.48380	0.246000	0.17985	.		0.692	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355	Intron	5	8	0	0	0	1	0	5	8				
ESPL1	9700	broad.mit.edu	37	12	53687221	53687221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687221C>T	ENST00000257934.4	+	31	6417	c.6326C>T	c.(6325-6327)gCa>gTa	p.A2109V	PFDN5_ENST00000550846.1_5'Flank|PFDN5_ENST00000351500.3_5'Flank|PFDN5_ENST00000334478.4_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.A2109V|PFDN5_ENST00000551018.1_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2109					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATTGGGGCTGCACCTATAGCC	0.542																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(6325-6327)gCa>gTa		extra spindle pole bodies homolog 1 (S. cerevisiae)							66.0	68.0	67.0					12																	53687221		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53687221C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6326C>T	12.37:g.53687221C>T	ENSP00000257934:p.Ala2109Val					ESPL1_ENST00000552462.1_Missense_Mutation_p.A2109V	p.A2109V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			31	6417	+			2109						Missense_Mutation	SNP	ENST00000257934.4	37	c.6326C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959978	0.92791	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.41758	0.99;0.99	4.88	4.88	0.63580	.	0.056741	0.64402	D	0.000002	T	0.70640	0.3247	M	0.89214	3.015	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.76913	-0.2783	10	0.87932	D	0	.	17.327	0.87251	0.0:1.0:0.0:0.0	.	2109	Q14674	ESPL1_HUMAN	V	2109;1784;2109	ENSP00000257934:A2109V;ENSP00000449831:A2109V	ENSP00000257934:A2109V	A	+	2	0	ESPL1	51973488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.683000	0.68189	2.698000	0.92095	0.563000	0.77884	GCA		0.542	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		4	42	0	0	0	1	0	4	42				
KCNQ5	56479	broad.mit.edu	37	6	73905007	73905007	+	Missense_Mutation	SNP	C	C	T	rs191250670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73905007C>T	ENST00000370398.1	+	14	2778	c.2669C>T	c.(2668-2670)cCg>cTg	p.P890L	KCNQ5_ENST00000403813.2_Missense_Mutation_p.P881L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P890L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.P780L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P900L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P891L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.P909L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	890					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GATGCCGCACCGCAGCCTGCC	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19425	0.0		0.0	False		,,,				2504	0.0				GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2725-2727)cCg>cTg		potassium voltage-gated channel, KQT-like subfamily, member 5							93.0	98.0	96.0					6																	73905007		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73905007C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2669C>T	6.37:g.73905007C>T	ENSP00000359425:p.Pro890Leu					KCNQ5_ENST00000403813.2_Missense_Mutation_p.P881L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P900L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P890L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P891L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.P780L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P890L	p.P909L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	15	3124	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	890	R -> Q (in Ref. 6; AAF73446).				A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2726C>T	CCDS4976.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.817	0.936673	0.18206	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99282	-5.49;-5.49;-5.49;-5.49;-5.5;-5.53;-5.68	5.84	1.63	0.23807	.	0.544065	0.19140	N	0.121701	D	0.92773	0.7702	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.24483	0.005;0.104;0.087;0.0;0.063	B;B;B;B;B	0.16289	0.003;0.015;0.015;0.001;0.011	D	0.90172	0.4236	10	0.45353	T	0.12	0.0631	5.9118	0.19033	0.3102:0.5408:0.0:0.149	.	780;900;909;881;890	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	L	909;909;890;890;900;891;881;780	ENSP00000345055:P909L;ENSP00000347326:P890L;ENSP00000359425:P890L;ENSP00000385501:P900L;ENSP00000347853:P891L;ENSP00000384453:P881L;ENSP00000409861:P780L	ENSP00000345055:P909L	P	+	2	0	KCNQ5	73961728	0.271000	0.24162	0.003000	0.11579	0.671000	0.39405	1.739000	0.38217	-0.023000	0.13963	-0.270000	0.10280	CCG		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		17	45	0	0	0	1	0	17	45				
SH2D3A	10045	broad.mit.edu	37	19	6760693	6760693	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6760693G>A	ENST00000245908.6	-	3	644	c.375C>T	c.(373-375)agC>agT	p.S125S	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	125					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGTGTCCTCGCTAAAGCTGC	0.597																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(373-375)agC>agT		SH2 domain containing 3A							39.0	38.0	38.0					19																	6760693		2203	4300	6503	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760693G>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.375C>T	19.37:g.6760693G>A						SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	p.S125S	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			3	644	-			125					A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.375C>T	CCDS12173.1																																																																																				0.597	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		12	12	0	0	0	1	0	12	12				
LENG9	94059	broad.mit.edu	37	19	54973788	54973788	+	Missense_Mutation	SNP	C	C	T	rs142325287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54973788C>T	ENST00000333834.4	-	1	1106	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	330							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGCCCAGGCTCGGTCACCATG	0.627																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(988-990)Gag>Aag		leukocyte receptor cluster (LRC) member 9		C	LYS/GLU	0,4406		0,0,2203	54.0	49.0	51.0		988	0.6	0.0	19	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	LENG9	NM_198988.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	330/502	54973788	1,13005	2203	4300	6503	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973788C>T	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.988G>A	19.37:g.54973788C>T	ENSP00000331647:p.Glu330Lys						p.E330K	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1106	-	Ovarian(34;0.19)		330					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.988G>A	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349590	0.41599	0.0	1.16E-4	ENSG00000182909	ENST00000333834	T	0.45668	0.89	3.98	0.581	0.17407	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.763936	0.12245	U	0.486120	T	0.29850	0.0746	L	0.51422	1.61	0.09310	N	1	P	0.36874	0.572	B	0.32724	0.151	T	0.12041	-1.0563	10	0.36615	T	0.2	-14.8307	4.7337	0.12977	0.1502:0.6079:0.1489:0.0931	.	330	Q96B70	LENG9_HUMAN	K	330	ENSP00000331647:E330K	ENSP00000331647:E330K	E	-	1	0	LENG9	59665600	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.997000	0.29731	-0.111000	0.12001	-3.784000	0.00020	GAG		0.627	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		25	28	0	0	0	1	0	25	28				
ZC3HAV1	56829	broad.mit.edu	37	7	138793934	138793934	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138793934G>A	ENST00000242351.5	-	1	460	c.144C>T	c.(142-144)cgC>cgT	p.R48R	ZC3HAV1_ENST00000471652.1_Silent_p.R48R|ZC3HAV1_ENST00000464606.1_Silent_p.R48R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	48	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACACCACAAAGCGGTCGGGCC	0.711																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(142-144)cgC>cgT		zinc finger CCCH-type, antiviral 1							12.0	14.0	13.0					7																	138793934		2194	4289	6483	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138793934G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.144C>T	7.37:g.138793934G>A						ZC3HAV1_ENST00000471652.1_Silent_p.R48R|ZC3HAV1_ENST00000464606.1_Silent_p.R48R	p.R48R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			1	460	-			48					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.144C>T	CCDS5851.1																																																																																				0.711	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		8	11	0	0	0	1	0	8	11				
ZDHHC12	84885	broad.mit.edu	37	9	131484064	131484064	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131484064G>A	ENST00000372663.4	-	4	360	c.348C>T	c.(346-348)tgC>tgT	p.C116C	ZDHHC12_ENST00000372667.5_Silent_p.C130C|ZDHHC12_ENST00000467312.1_5'UTR|RP11-545E17.3_ENST00000443631.1_RNA|ZDHHC12_ENST00000372672.2_Silent_p.C116C	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	116					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CGCAACGGCGGCACTCACGGC	0.662																																						ENST00000372667.5																			0				central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						c.(388-390)tgC>tgT		zinc finger, DHHC-type containing 12							85.0	79.0	81.0					9																	131484064		2203	4300	6503	SO:0001819	synonymous_variant	84885					integral to membrane	acyltransferase activity|zinc ion binding	g.chr9:131484064G>A	AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.348C>T	9.37:g.131484064G>A						ZDHHC12_ENST00000372672.2_Silent_p.C116C|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372663.4_Silent_p.C116C	p.C130C			Q96GR4	ZDH12_HUMAN			4	419	-			116					A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Silent	SNP	ENST00000372663.4	37	c.390C>T	CCDS6909.1																																																																																				0.662	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054484.1	NM_032799		38	54	0	0	0	1	0	38	54				
TP73-AS1	57212	broad.mit.edu	37	1	3662560	3662560	+	RNA	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3662560A>C	ENST00000452079.1	-	0	1326				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											CGGGCAGACAAGTCGCTGGTG	0.602																																						ENST00000452079.1																			0																				105.0	118.0	113.0					1																	3662560		2181	4273	6454			0							g.chr1:3662560A>C			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662560A>C						TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA		NR_033711.1						0	1326	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.602	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		12	100	0	0	0	1	0	12	100				
TMED8	283578	broad.mit.edu	37	14	77809722	77809722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77809722G>A	ENST00000216468.7	-	5	614	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	187	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCTCACCACGCTTCACCACC	0.537																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(559-561)Cgt>Tgt		transmembrane emp24 protein transport domain containing 8							99.0	67.0	78.0					14																	77809722		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77809722G>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.559C>T	14.37:g.77809722G>A	ENSP00000216468:p.Arg187Cys						p.R187C	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	5	614	-			187			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.559C>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381146	0.82792	.	.	ENSG00000100580	ENST00000216468	T	0.48836	0.8	5.98	5.07	0.68467	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77975	-0.2385	10	0.87932	D	0	1.0582	14.082	0.64929	0.0:0.0:0.7261:0.2739	.	187	Q6PL24	TMED8_HUMAN	C	187	ENSP00000216468:R187C	ENSP00000216468:R187C	R	-	1	0	TMED8	76879475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.442000	0.59988	1.481000	0.48307	0.655000	0.94253	CGT		0.537	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		8	19	0	0	0	1	0	8	19				
INPPL1	3636	broad.mit.edu	37	11	71942546	71942546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71942546C>T	ENST00000298229.2	+	13	1706	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	INPPL1_ENST00000541756.1_Missense_Mutation_p.A259V|INPPL1_ENST00000538751.1_Missense_Mutation_p.A259V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	501					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCCAGATTGCCATGCAATCA	0.522																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1501-1503)gCc>gTc		inositol polyphosphate phosphatase-like 1							96.0	76.0	82.0					11																	71942546		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942546C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1502C>T	11.37:g.71942546C>T	ENSP00000298229:p.Ala501Val					INPPL1_ENST00000541756.1_Missense_Mutation_p.A259V|INPPL1_ENST00000538751.1_Missense_Mutation_p.A259V	p.A501V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			13	1706	+			501					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1502C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	36	5.659134	0.96734	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.95272	-3.66;-3.66;-3.66	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.74647	2.275	0.54753	D	0.999987	D	0.89917	1.0	D	0.72982	0.979	D	0.97181	0.9851	10	0.72032	D	0.01	.	17.5764	0.87950	0.0:1.0:0.0:0.0	.	501	O15357	SHIP2_HUMAN	V	501;259;259	ENSP00000298229:A501V;ENSP00000446360:A259V;ENSP00000444619:A259V	ENSP00000298229:A501V	A	+	2	0	INPPL1	71620194	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.466000	0.80914	2.746000	0.94184	0.655000	0.94253	GCC		0.522	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		12	27	0	0	0	1	0	12	27				
COPB2	9276	broad.mit.edu	37	3	139079976	139079976	+	Silent	SNP	C	C	T	rs543622675		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139079976C>T	ENST00000333188.5	-	17	2338	c.2157G>A	c.(2155-2157)gcG>gcA	p.A719A	COPB2_ENST00000507777.1_Silent_p.A690A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	719					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.A719A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATCTCTCTCCGCACCCTCTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18582	0.0		0.0	False		,,,				2504	0.001					ENST00000333188.5																			1	Substitution - coding silent(1)	p.A719A(1)	endometrium(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2155-2157)gcG>gcA		coatomer protein complex, subunit beta 2 (beta prime)							179.0	171.0	173.0					3																	139079976		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139079976C>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2157G>A	3.37:g.139079976C>T						COPB2_ENST00000507777.1_Silent_p.A690A	p.A719A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			17	2338	-			719					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.2157G>A	CCDS3108.1																																																																																				0.443	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		20	186	0	0	0	1	0	20	186				
AVPR2	554	broad.mit.edu	37	X	153171772	153171772	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171772G>T	ENST00000358927.2	+	3	1021	c.812G>T	c.(811-813)aGg>aTg	p.R271M	AVPR2_ENST00000337474.5_Missense_Mutation_p.R271M|AVPR2_ENST00000370049.1_Missense_Mutation_p.R271M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	271					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AAGACTGTGAGGATGACGCTA	0.672																																						ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(811-813)aGg>aTg		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						190.0	142.0	158.0					X																	153171772		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171772G>T	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.812G>T	X.37:g.153171772G>T	ENSP00000351805:p.Arg271Met					AVPR2_ENST00000370049.1_Missense_Mutation_p.R271M|AVPR2_ENST00000337474.5_Missense_Mutation_p.R271M	p.R271M			P30518	V2R_HUMAN			3	1021	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		271					C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.812G>T	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	15.15	2.747532	0.49257	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.096295	0.64402	D	0.000003	T	0.65842	0.2730	M	0.89601	3.045	0.39800	D	0.972555	D;D	0.71674	0.998;0.998	D;D	0.70935	0.952;0.971	T	0.72663	-0.4225	10	0.87932	D	0	-21.7334	8.8195	0.35016	0.1226:0.0:0.8774:0.0	.	271;271	P30518-2;P30518	.;V2R_HUMAN	M	271	ENSP00000351805:R271M;ENSP00000393513:R271M;ENSP00000338072:R271M;ENSP00000359066:R271M	ENSP00000338072:R271M	R	+	2	0	AVPR2	152824966	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.987000	0.40687	1.732000	0.51606	0.263000	0.19301	AGG		0.672	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			36	46	1	0	4.92203e-23	1	6.50827e-23	36	46				
PHF13	148479	broad.mit.edu	37	1	6681484	6681484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6681484G>A	ENST00000377648.4	+	4	1072	c.690G>A	c.(688-690)tgG>tgA	p.W230*	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	230					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		ACGATTCCTGGGACCTCGTGA	0.517																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(688-690)tgG>tgA		PHD finger protein 13							52.0	51.0	51.0					1																	6681484		2203	4300	6503	SO:0001587	stop_gained	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6681484G>A	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.690G>A	1.37:g.6681484G>A	ENSP00000366876:p.Trp230*					PHF13_ENST00000495385.1_Intron	p.W230*	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	4	1072	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	230					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Nonsense_Mutation	SNP	ENST00000377648.4	37	c.690G>A	CCDS85.1	.	.	.	.	.	.	.	.	.	.	G	40	8.035467	0.98621	.	.	ENSG00000116273	ENST00000377648	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	9.654	18.5834	0.91180	0.0:0.0:1.0:0.0	.	.	.	.	X	230	.	ENSP00000366876:W230X	W	+	3	0	PHF13	6604071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.626000	0.88956	0.650000	0.86243	TGG		0.517	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		8	23	0	0	0	1	0	8	23				
SSPO	23145	broad.mit.edu	37	7	149519666	149519666	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149519666C>T	ENST00000378016.2	+	0	13156							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCAGCAGCGCTACCGACA	0.697																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149519666C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149519666C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	13156	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				13	6	0	0	0	1	0	13	6				
PPP2R2B	5521	broad.mit.edu	37	5	146070694	146070694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146070694C>T	ENST00000394413.3	-	4	1014	c.444G>A	c.(442-444)ctG>ctA	p.L148L	PPP2R2B_ENST00000508545.2_Silent_p.L137L|PPP2R2B_ENST00000356826.3_Silent_p.L148L|PPP2R2B_ENST00000394410.2_Silent_p.L137L|PPP2R2B_ENST00000336640.6_Silent_p.L151L|PPP2R2B_ENST00000394414.1_Silent_p.L214L|PPP2R2B_ENST00000394409.3_Silent_p.L206L|PPP2R2B_ENST00000394411.4_Silent_p.L148L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Silent_p.L154L|PPP2R2B_ENST00000453001.1_Silent_p.L148L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	148					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCACCCGCAGGGTTGTGA	0.562																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(442-444)ctG>ctA		protein phosphatase 2, regulatory subunit B, beta							72.0	75.0	74.0					5																	146070694		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146070694C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.444G>A	5.37:g.146070694C>T						PPP2R2B_ENST00000394410.2_Silent_p.L137L|PPP2R2B_ENST00000453001.1_Silent_p.L148L|PPP2R2B_ENST00000504198.1_Silent_p.L154L|PPP2R2B_ENST00000336640.6_Silent_p.L151L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Silent_p.L148L|PPP2R2B_ENST00000508545.2_Silent_p.L137L|PPP2R2B_ENST00000394414.1_Silent_p.L214L|PPP2R2B_ENST00000394409.3_Silent_p.L206L|PPP2R2B_ENST00000356826.3_Silent_p.L148L	p.L148L			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1014	-			148					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.444G>A	CCDS4284.1																																																																																				0.562	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		23	35	0	0	0	1	0	23	35				
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A	rs201395313		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21885	0.0		0.0	False		,,,				2504	0.0					ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(454-456)gCg>gTg		ring finger protein 148		G	,,,VAL/ALA	2,4034		0,2,2016	270.0	266.0	268.0		,,,455	4.1	0.9	7		268	0,8328		0,0,4164	yes	intron,intron,intron,missense	CADPS2,RNF148	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_198085.1	,,,64	0,2,6180	AA,AG,GG		0.0,0.0496,0.0162	,,,possibly-damaging	,,,152/306	122342350	2,12362	2018	4164	6182	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342350G>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.455C>T	7.37:g.122342350G>A	ENSP00000388207:p.Ala152Val					CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000412584.2_Intron	p.A152V	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	671	-			152			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.455C>T	CCDS47692.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.93	2.681072	0.47886	4.96E-4	0.0	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.05139	3.49	4.95	4.05	0.47172	Protease-associated domain, PA (1);	.	.	.	.	T	0.07999	0.0200	N	0.21324	0.655	0.80722	D	1	D;D	0.67145	0.996;0.988	P;P	0.54460	0.753;0.482	T	0.26430	-1.0103	9	0.35671	T	0.21	.	8.0326	0.30474	0.0888:0.1629:0.7483:0.0	.	54;152	C9JVJ0;Q8N7C7	.;RN148_HUMAN	V	152;54	ENSP00000388207:A152V	ENSP00000388207:A152V	A	-	2	0	RNF148	122129586	0.998000	0.40836	0.850000	0.33497	0.869000	0.49853	4.370000	0.59517	2.446000	0.82766	0.555000	0.69702	GCG		0.463	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		23	391	0	0	0	1	0	23	391				
RAPGEF2	9693	broad.mit.edu	37	4	160277280	160277280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160277280C>T	ENST00000264431.4	+	23	4863	c.4444C>T	c.(4444-4446)Cag>Tag	p.Q1482*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1482					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCCCCCTATCAGTCCCAAGG	0.522																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4444-4446)Cag>Tag		Rap guanine nucleotide exchange factor (GEF) 2							37.0	39.0	39.0					4																	160277280		2011	4158	6169	SO:0001587	stop_gained	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277280C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4444C>T	4.37:g.160277280C>T	ENSP00000264431:p.Gln1482*						p.Q1482*	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4863	+	all_hematologic(180;0.24)		1482					D3DP27	Nonsense_Mutation	SNP	ENST00000264431.4	37	c.4444C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	46	12.182559	0.99644	.	.	ENSG00000109756	ENST00000264431	.	.	.	5.51	3.73	0.42828	.	0.185336	0.37761	N	0.001951	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	15.7565	0.78030	0.0:0.741:0.259:0.0	.	.	.	.	X	1482	.	ENSP00000264431:Q1482X	Q	+	1	0	RAPGEF2	160496730	0.998000	0.40836	0.003000	0.11579	0.776000	0.43924	3.275000	0.51639	0.636000	0.30508	0.563000	0.77884	CAG		0.522	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		5	13	0	0	0	1	0	5	13				
CRTC2	200186	broad.mit.edu	37	1	153920936	153920936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153920936G>A	ENST00000368633.1	-	13	1986	c.1859C>T	c.(1858-1860)aCa>aTa	p.T620I	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Missense_Mutation_p.T300I	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	620					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATTCACCTGTGAGGATGAT	0.542																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1858-1860)aCa>aTa		CREB regulated transcription coactivator 2							105.0	96.0	99.0					1																	153920936		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153920936G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1859C>T	1.37:g.153920936G>A	ENSP00000357622:p.Thr620Ile					CRTC2_ENST00000368630.3_Missense_Mutation_p.T300I	p.T620I	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	1986	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		620					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1859C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104966	0.56291	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.68331	-0.32;1.61	4.73	4.73	0.59995	Transducer of regulated CREB activity, C-terminal (1);	0.197447	0.42053	D	0.000775	T	0.61299	0.2336	L	0.55213	1.73	0.33355	D	0.571512	B;D	0.53312	0.395;0.959	P;P	0.50109	0.486;0.631	T	0.66862	-0.5816	10	0.56958	D	0.05	-0.1619	15.2295	0.73374	0.0:0.0:1.0:0.0	.	620;300	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	I	300;620	ENSP00000357619:T300I;ENSP00000357622:T620I	ENSP00000357619:T300I	T	-	2	0	CRTC2	152187560	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.315000	0.72853	2.462000	0.83206	0.448000	0.29417	ACA		0.542	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		16	29	0	0	0	1	0	16	29				
RPGRIP1	57096	broad.mit.edu	37	14	21794202	21794202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21794202C>A	ENST00000400017.2	+	16	2580	c.2580C>A	c.(2578-2580)gaC>gaA	p.D860E	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.D860E|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D822E|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D219E	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	860	C2.				eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGACCTCTGACCTGGACCATT	0.502																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2578-2580)gaC>gaA		retinitis pigmentosa GTPase regulator interacting protein 1							98.0	95.0	96.0					14																	21794202		1968	4156	6124	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21794202C>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2580C>A	14.37:g.21794202C>A	ENSP00000382895:p.Asp860Glu					RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D822E|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D860E|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D219E	p.D860E			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	16	2580	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	860			C2.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2580C>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071505	0.20147	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	D;D;D;D;T	0.87650	-2.28;-2.28;-2.28;-2.28;-0.33	4.87	0.445	0.16597	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.106983	0.64402	N	0.000010	T	0.75910	0.3914	L	0.28694	0.88	0.35697	D	0.815324	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.001	B;B;B;B;B	0.11329	0.004;0.006;0.004;0.004;0.002	T	0.65537	-0.6144	10	0.20519	T	0.43	-11.2772	9.1499	0.36955	0.2491:0.4135:0.3374:0.0	.	243;219;335;476;860	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	E	822;860;860;335;219	ENSP00000451219:D822E;ENSP00000382895:D860E;ENSP00000206660:D860E;ENSP00000451262:D335E;ENSP00000309721:D219E	ENSP00000206660:D860E	D	+	3	2	RPGRIP1	20864042	0.707000	0.27866	0.999000	0.59377	0.930000	0.56654	-0.224000	0.09164	0.234000	0.21139	-0.150000	0.13652	GAC		0.502	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		6	21	1	0	0.0215528	1	0.0221649	6	21				
STAG3	10734	broad.mit.edu	37	7	99794891	99794891	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99794891C>A	ENST00000426455.1	+	10	1461	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	STAG3_ENST00000394018.2_Missense_Mutation_p.L294M|STAG3_ENST00000317296.5_Missense_Mutation_p.L352M	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	352	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTGGACTCTGCATGATAA	0.453																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1054-1056)Ctg>Atg		stromal antigen 3							44.0	50.0	48.0					7																	99794891		2197	4277	6474	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99794891C>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1054C>A	7.37:g.99794891C>A	ENSP00000400359:p.Leu352Met					STAG3_ENST00000317296.5_Missense_Mutation_p.L352M|STAG3_ENST00000394018.2_Missense_Mutation_p.L294M	p.L352M			Q9UJ98	STAG3_HUMAN			10	1461	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		352			SCD.		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1054C>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	15.83	2.948439	0.53186	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.51071	0.72;0.72;0.72	5.52	2.29	0.28610	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.37761	N	0.001951	T	0.60894	0.2304	M	0.73372	2.23	0.46654	D	0.99914	D;D	0.65815	0.995;0.995	P;D	0.67725	0.893;0.953	T	0.57843	-0.7741	10	0.32370	T	0.25	-8.7714	9.9992	0.41918	0.0:0.7345:0.0:0.2655	.	294;352	B4DZ10;Q9UJ98	.;STAG3_HUMAN	M	352;294;310;352	ENSP00000400359:L352M;ENSP00000377586:L294M;ENSP00000319318:L352M	ENSP00000319318:L352M	L	+	1	2	STAG3	99632827	0.001000	0.12720	1.000000	0.80357	0.995000	0.86356	-0.054000	0.11826	0.706000	0.31912	0.650000	0.86243	CTG		0.453	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		16	351	1	0	1.99824e-07	1	2.35189e-07	16	351				
CPXM2	119587	broad.mit.edu	37	10	125521526	125521526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125521526C>T	ENST00000241305.3	-	11	1793	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	547					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGCGGAACACGTGGTCGTCG	0.677																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1639-1641)Gtg>Atg		carboxypeptidase X (M14 family), member 2							63.0	63.0	63.0					10																	125521526		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125521526C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1639G>A	10.37:g.125521526C>T	ENSP00000241305:p.Val547Met					CPXM2_ENST00000368854.3_5'UTR	p.V547M	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	11	1793	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	547					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1639G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752089	0.69533	.	.	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.11277	2.79	5.25	5.25	0.73442	Peptidase M14, carboxypeptidase A (2);	0.061993	0.64402	D	0.000005	T	0.18593	0.0446	L	0.41492	1.28	0.47441	D	0.999428	P	0.49185	0.92	P	0.51079	0.658	T	0.00292	-1.1842	10	0.39692	T	0.17	-11.4102	19.0441	0.93012	0.0:1.0:0.0:0.0	.	547	Q8N436	CPXM2_HUMAN	M	43;547;380;522	ENSP00000241305:V547M	ENSP00000241305:V547M	V	-	1	0	CPXM2	125511516	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.562000	0.45914	2.733000	0.93635	0.609000	0.83330	GTG		0.677	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		22	31	0	0	0	1	0	22	31				
TTLL12	23170	broad.mit.edu	37	22	43576899	43576899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43576899C>T	ENST00000216129.6	-	3	458	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	132					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCTGCTGGCGCGCGTGCTC	0.667																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(394-396)cGc>cAc		tubulin tyrosine ligase-like family, member 12							50.0	44.0	46.0					22																	43576899		2203	4299	6502	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576899C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.395G>A	22.37:g.43576899C>T	ENSP00000216129:p.Arg132His						p.R132H	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			3	458	-		Ovarian(80;0.221)|Glioma(61;0.222)	132					Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.395G>A	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329485	0.60743	.	.	ENSG00000100304	ENST00000216129;ENST00000357017;ENST00000423379	T	0.08896	3.04	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	M	0.82056	2.57	0.80722	D	1	B;P	0.37352	0.373;0.591	B;B	0.27608	0.066;0.081	T	0.01675	-1.1298	10	0.54805	T	0.06	-8.8899	13.3887	0.60811	0.0:0.9244:0.0:0.0756	.	132;132	B1AH89;Q14166	.;TTL12_HUMAN	H	132	ENSP00000216129:R132H	ENSP00000216129:R132H	R	-	2	0	TTLL12	41906843	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	4.819000	0.62664	2.502000	0.84385	0.655000	0.94253	CGC		0.667	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		26	34	0	0	0	1	0	26	34				
SNX6	58533	broad.mit.edu	37	14	35078876	35078876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35078876G>A	ENST00000362031.4	-	3	193	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396534.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	43	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		ACTTTATCCCGCTCACTAAGA	0.333																																						ENST00000362031.4																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(163-165)Cgg>Tgg		sorting nexin 6							103.0	98.0	100.0					14																	35078876		1850	4112	5962	SO:0001583	missense	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35078876G>A	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.163C>T	14.37:g.35078876G>A	ENSP00000355217:p.Arg55Trp					SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR	p.R55W	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	3	193	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		43			PX.		C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	37	c.163C>T	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715234	0.48622	.	.	ENSG00000129515	ENST00000362031;ENST00000557265;ENST00000555648	T;T;T	0.59083	1.24;0.29;1.24	4.47	2.01	0.26516	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.76740	-0.2848	10	0.72032	D	0.01	-9.5153	11.4901	0.50377	0.0:0.0:0.3006:0.6994	.	43	Q9UNH7	SNX6_HUMAN	W	55;55;73	ENSP00000355217:R55W;ENSP00000452577:R55W;ENSP00000452520:R73W	ENSP00000355217:R55W	R	-	1	2	SNX6	34148627	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	3.322000	0.52007	0.297000	0.22615	-0.262000	0.10625	CGG		0.333	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			31	47	0	0	0	1	0	31	47				
IL20RA	53832	broad.mit.edu	37	6	137338236	137338236	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137338236G>T	ENST00000316649.5	-	2	328	c.93C>A	c.(91-93)ccC>ccA	p.P31P	IL20RA_ENST00000367746.3_Silent_p.P31P|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367748.1_De_novo_Start_OutOfFrame|IL20RA_ENST00000541547.1_De_novo_Start_OutOfFrame	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	31					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGAGACACAGGGAACTGAAA	0.463																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27								interleukin 20 receptor, alpha							87.0	73.0	78.0					6																	137338236		2203	4300	6503	SO:0001819	synonymous_variant	53832					integral to membrane	receptor activity	g.chr6:137338236G>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.93C>A	6.37:g.137338236G>T						IL20RA_ENST00000367746.3_Silent_p.P31P|IL20RA_ENST00000541547.1_De_novo_Start_OutOfFrame|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Silent_p.P31P				Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	0	525	-	Colorectal(23;0.24)							B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Translation_Start_Site	SNP	ENST00000316649.5	37		CCDS5181.1																																																																																				0.463	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		12	18	1	0	5.50884e-06	1	6.28354e-06	12	18				
MED13	9969	broad.mit.edu	37	17	60108947	60108947	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60108947G>A	ENST00000397786.2	-	6	943	c.867C>T	c.(865-867)gaC>gaT	p.D289D	MED13_ENST00000580896.1_5'UTR	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	289					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTAGGAATGTCTGACTGAG	0.483																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(865-867)gaC>gaT		mediator complex subunit 13							93.0	92.0	93.0					17																	60108947		2004	4179	6183	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60108947G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.867C>T	17.37:g.60108947G>A						MED13_ENST00000580896.1_5'UTR	p.D289D	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			6	943	-			289					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.867C>T	CCDS42366.1																																																																																				0.483	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		10	16	0	0	0	1	0	10	16				
OGT	8473	broad.mit.edu	37	X	70757810	70757810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.R117H(1)|p.R107H(1)	breast(2)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(349-351)cGt>cAt		O-linked N-acetylglucosamine (GlcNAc) transferase							160.0	128.0	139.0					X																	70757810		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70757810G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.350G>A	X.37:g.70757810G>A	ENSP00000362824:p.Arg117His					OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.R107H	p.R117H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			3	567	+	Renal(35;0.156)		117					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.350G>A	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.1|20.1	3.937205|3.937205	0.73557|0.73557	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774|ENST00000455587	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.105470|.	0.64402|.	D|.	0.000011|.	T|T	0.73297|0.73297	0.3569|0.3569	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	D;D;B|.	0.71674|.	0.998;0.997;0.369|.	D;P;B|.	0.64042|.	0.921;0.832;0.045|.	T|T	0.73275|0.73275	-0.4034|-0.4034	10|5	0.46703|.	T|.	0.11|.	-19.0221|-19.0221	17.2684|17.2684	0.87093|0.87093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	117;107;117|.	B4DTL6;O15294-3;O15294|.	.;.;OGT1_HUMAN|.	H|I	117;107;100|77	ENSP00000362824:R117H;ENSP00000362805:R107H;ENSP00000399729:R100H|.	ENSP00000362805:R107H|.	R|V	+|+	2|1	0|0	OGT|OGT	70674535|70674535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.502000|9.502000	0.97981|0.97981	2.259000|2.259000	0.74868|0.74868	0.525000|0.525000	0.51046|0.51046	CGT|GTC		0.493	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		6	46	0	0	0	1	0	6	46				
AGO1	26523	broad.mit.edu	37	1	36354031	36354031	+	Missense_Mutation	SNP	C	C	T	rs146814747	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36354031C>T	ENST00000373204.4	+	2	242	c.29C>T	c.(28-30)gCg>gTg	p.A10V	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	10					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTTGTAGCTGCGGGCGCTTAC	0.562																																						ENST00000373204.4																			0											c.(28-30)gCg>gTg		argonaute RISC catalytic component 1							54.0	52.0	53.0					1																	36354031		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36354031C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.29C>T	1.37:g.36354031C>T	ENSP00000362300:p.Ala10Val					AGO1_ENST00000373206.1_5'UTR	p.A10V	NM_012199.2	NP_036331.1					2	242	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.29C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405132	0.62288	.	.	ENSG00000092847	ENST00000373204	T	0.09723	2.95	5.6	5.6	0.85130	.	0.460556	0.21267	N	0.077386	T	0.05502	0.0145	N	0.02539	-0.55	0.33903	D	0.638716	B	0.13145	0.007	B	0.10450	0.005	T	0.29852	-0.9998	10	0.35671	T	0.21	-11.1684	15.1722	0.72884	0.0:0.9303:0.0:0.0697	.	10	Q9UL18	AGO1_HUMAN	V	10	ENSP00000362300:A10V	ENSP00000362300:A10V	A	+	2	0	EIF2C1	36126618	1.000000	0.71417	0.980000	0.43619	0.945000	0.59286	4.578000	0.60929	2.793000	0.96121	0.591000	0.81541	GCG		0.562	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			32	33	0	0	0	1	0	32	33				
CALB1	793	broad.mit.edu	37	8	91094331	91094331	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91094331C>A	ENST00000265431.3	-	2	261		c.e2-1		CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa						cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAACCACTTCCTGCAAAGACA	0.502																																					Melanoma(46;573 1182 27367 39727 48386)	ENST00000265431.3																			0				breast(1)|kidney(1)|lung(8)|pancreas(1)	11						c.e2-1		calbindin 1, 28kDa							86.0	87.0	87.0					8																	91094331		2203	4300	6503	SO:0001630	splice_region_variant	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91094331C>A		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.80-1G>T	8.37:g.91094331C>A								NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		2	261	-								B2R696|B7Z9J4	Splice_Site	SNP	ENST00000265431.3	37		CCDS6251.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998766	0.74818	.	.	ENSG00000104327	ENST00000265431	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9285	0.86183	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CALB1	91163507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.096000	0.64535	2.744000	0.94065	0.563000	0.77884	.		0.502	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929	Intron	7	101	1	0	0.00198382	1	0.00210581	7	101				
NBEAL1	65065	broad.mit.edu	37	2	204001395	204001395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204001395C>A	ENST00000449802.1	+	28	4709	c.4376C>A	c.(4375-4377)tCt>tAt	p.S1459Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1459										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTAGAAAAGTCTGATGATGAT	0.333																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4375-4377)tCt>tAt		neurobeachin-like 1							110.0	104.0	106.0					2																	204001395		1866	4094	5960	SO:0001583	missense	65065						binding	g.chr2:204001395C>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4376C>A	2.37:g.204001395C>A	ENSP00000399903:p.Ser1459Tyr						p.S1459Y	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			28	4709	+			1459					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4376C>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069647	0.76301	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.57752	0.38	5.9	5.02	0.67125	.	1.313220	0.04734	N	0.421557	T	0.75997	0.3926	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	T	0.59979	-0.7352	10	0.87932	D	0	.	16.7174	0.85400	0.0:0.8703:0.1297:0.0	.	1459;1448	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Y	1459	ENSP00000399903:S1459Y	ENSP00000344985:S1459Y	S	+	2	0	NBEAL1	203709640	0.994000	0.37717	1.000000	0.80357	0.969000	0.65631	3.101000	0.50283	1.486000	0.48398	-0.181000	0.13052	TCT		0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			32	46	1	0	4.74835e-14	1	6.04786e-14	32	46				
DCC	1630	broad.mit.edu	37	18	50450170	50450170	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50450170C>A	ENST00000442544.2	+	4	1407	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	DCC_ENST00000412726.1_Missense_Mutation_p.S112Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	264	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTGTGTTTCTGGCTATCCT	0.408																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(790-792)tCt>tAt		deleted in colorectal carcinoma							151.0	122.0	132.0					18																	50450170		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450170C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.791C>A	18.37:g.50450170C>A	ENSP00000389140:p.Ser264Tyr					DCC_ENST00000412726.1_Missense_Mutation_p.S112Y	p.S264Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1407	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	264			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.791C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487487	0.44249	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.69040	-0.37;-0.37	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144713	0.47093	D	0.000257	T	0.81791	0.4897	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	T	0.77368	-0.2614	10	0.21540	T	0.41	.	18.7545	0.91827	0.0:1.0:0.0:0.0	.	112;264	E7EQM8;P43146	.;DCC_HUMAN	Y	264;197;112	ENSP00000389140:S264Y;ENSP00000397322:S112Y	ENSP00000304146:S197Y	S	+	2	0	DCC	48704168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.615000	0.67702	2.728000	0.93425	0.650000	0.86243	TCT		0.408	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		28	37	1	0	9.39395e-14	1	1.19386e-13	28	37				
FAT2	2196	broad.mit.edu	37	5	150900894	150900894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150900894C>T	ENST00000261800.5	-	18	11272	c.11260G>A	c.(11260-11262)Gcc>Acc	p.A3754T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3754					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGCCTGGCGGTGCTGTAC	0.612																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11260-11262)Gcc>Acc		FAT atypical cadherin 2							74.0	66.0	69.0					5																	150900894		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150900894C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11260G>A	5.37:g.150900894C>T	ENSP00000261800:p.Ala3754Thr						p.A3754T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	11272	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3754					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11260G>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.737702|4.737702	0.89573|0.89573	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.54675|.	0.56|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.81744|0.81744	0.4887|0.4887	M|M	0.78049|0.78049	2.395|2.395	0.53688|0.53688	D|D	0.999977|0.999977	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.80023|0.80023	-0.1556|-0.1556	10|5	0.44086|.	T|.	0.13|.	.|.	20.4777|20.4777	0.99188|0.99188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3754;945|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	T|H	3754|612	ENSP00000261800:A3754T|.	ENSP00000261800:A3754T|.	A|R	-|-	1|2	0|0	FAT2|FAT2	150881087|150881087	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.884000|0.884000	0.51177|0.51177	5.975000|5.975000	0.70475|0.70475	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.612	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		20	21	0	0	0	1	0	20	21				
TAOK2	9344	broad.mit.edu	37	16	29989643	29989643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989643G>A	ENST00000308893.4	+	4	1318	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.R92Q|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.R92Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATTCAGTACCGGGGCTGTTAC	0.547																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(274-276)cGg>cAg		TAO kinase 2							162.0	147.0	152.0					16																	29989643		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989643G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.275G>A	16.37:g.29989643G>A	ENSP00000310094:p.Arg92Gln					TAOK2_ENST00000543033.1_Missense_Mutation_p.R92Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R92Q	p.R92Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			4	1318	+			92			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.275G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102955	0.76983	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.24723	1.84;1.84;1.84	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148422	0.44483	D	0.000455	T	0.25082	0.0609	N	0.16656	0.425	0.80722	D	1	D;P;P;D	0.76494	0.999;0.891;0.911;0.991	P;B;B;P	0.56563	0.801;0.2;0.301;0.801	T	0.01767	-1.1278	9	.	.	.	.	9.072	0.36497	0.1553:0.0:0.8447:0.0	.	276;92;92;92	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	Q	92	ENSP00000310094:R92Q;ENSP00000440336:R92Q;ENSP00000279394:R92Q	.	R	+	2	0	TAOK2	29897144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.086000	0.57664	2.771000	0.95319	0.561000	0.74099	CGG		0.547	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		56	117	0	0	0	1	0	56	117				
DEPDC5	9681	broad.mit.edu	37	22	32242867	32242867	+	Silent	SNP	G	G	A	rs201368629	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32242867G>A	ENST00000382112.3	+	30	3112	c.3042G>A	c.(3040-3042)acG>acA	p.T1014T	DEPDC5_ENST00000266091.3_Silent_p.T1023T|DEPDC5_ENST00000382105.2_Silent_p.T945T|DEPDC5_ENST00000400249.2_Silent_p.T1014T|DEPDC5_ENST00000400248.2_Silent_p.T1014T|DEPDC5_ENST00000535622.1_Silent_p.T945T|DEPDC5_ENST00000382111.2_Silent_p.T1023T|DEPDC5_ENST00000400246.1_Silent_p.T1023T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1023					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCATTTCCACGCATTCTCTGG	0.552													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18398	0.001		0.0	False		,,,				2504	0.0					ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3067-3069)acG>acA		DEP domain containing 5							84.0	84.0	84.0					22																	32242867		1983	4150	6133	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32242867G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3042G>A	22.37:g.32242867G>A						DEPDC5_ENST00000400249.2_Silent_p.T1014T|DEPDC5_ENST00000382112.3_Silent_p.T1014T|DEPDC5_ENST00000382105.2_Silent_p.T945T|DEPDC5_ENST00000535622.1_Silent_p.T945T|DEPDC5_ENST00000382111.2_Silent_p.T1023T|DEPDC5_ENST00000400248.1_Silent_p.T1014T|DEPDC5_ENST00000266091.3_Silent_p.T1023T	p.T1023T			O75140	DEPD5_HUMAN			31	3211	+			1014					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.3069G>A	CCDS46692.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.013	-1.640748	0.00799	.	.	ENSG00000100150	ENST00000433147	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.41166	0.1147	.	.	.	0.46823	D	0.999213	.	.	.	.	.	.	T	0.59762	-0.7393	4	.	.	.	.	4.3028	0.10932	0.1444:0.2972:0.3905:0.168	.	.	.	.	T	421	.	.	A	+	1	0	DEPDC5	30572867	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.777000	0.00187	-4.954000	0.00026	-2.780000	0.00118	GCA		0.552	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		7	61	0	0	0	1	0	7	61				
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1262039G>A	ENST00000348261.5	+	25	4908	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CGTGGGCGTCGTGGTCGAGAA	0.632																																						ENST00000348261.5																			4	Substitution - Missense(4)	p.V1554L(4)	lung(4)	breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4660-4662)Gtg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						199.0	212.0	207.0					16																	1262039		2166	4267	6433	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262039G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4660G>A	16.37:g.1262039G>A	ENSP00000334198:p.Val1554Met					CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554M	p.V1554M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			25	4908	+		Hepatocellular(780;0.00369)	1554					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4660G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907960	0.92107	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98717	-5.09;-5.09	4.13	4.13	0.48395	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	M	0.88450	2.955	0.53688	D	0.999979	D;D;D;D;D	0.89917	1.0;0.995;0.974;0.973;0.998	D;P;P;P;D	0.97110	1.0;0.883;0.698;0.622;0.938	D	0.99026	1.0819	10	0.87932	D	0	.	15.9029	0.79397	0.0:0.0:1.0:0.0	.	295;295;295;1554;1554	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	M	1554	ENSP00000334198:V1554M;ENSP00000351401:V1554M	ENSP00000334198:V1554M	V	+	1	0	CACNA1H	1202040	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	7.339000	0.79282	2.285000	0.76669	0.467000	0.42956	GTG		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		67	80	0	0	0	1	0	67	80				
TRAPPC9	83696	broad.mit.edu	37	8	141381153	141381153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381153C>T	ENST00000438773.2	-	8	1394	c.1261G>A	c.(1261-1263)Gcg>Acg	p.A421T	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A412T|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.A519T	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	421					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGGCTCCGCGATGCTTGGG	0.597																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1555-1557)Gcg>Acg		trafficking protein particle complex 9							73.0	73.0	73.0					8																	141381153		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381153C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1261G>A	8.37:g.141381153C>T	ENSP00000405060:p.Ala421Thr					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A412T|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.A421T	p.A519T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			8	1569	-			421					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1555G>A	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.814|3.814	-0.039204|-0.039204	0.07497|0.07497	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.65|5.65	-11.3|-11.3	0.00108|0.00108	.|.	0.643631|.	0.16501|.	N|.	0.211653|.	T|T	0.07143|0.07143	0.0181|0.0181	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B|.	0.19583|.	0.004;0.0;0.037|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.13229|0.13229	-1.0517|-1.0517	9|5	0.12766|.	T|.	0.61|.	.|.	2.4183|2.4183	0.04441|0.04441	0.3599:0.1142:0.3564:0.1695|0.3599:0.1142:0.3564:0.1695	.|.	421;412;519|.	Q96Q05;Q96Q05-3;Q96Q05-2|.	TPPC9_HUMAN;.;.|.	T|H	519;412;421|264	.|.	ENSP00000373978:A412T|.	A|R	-|-	1|2	0|0	TRAPPC9|TRAPPC9	141450335|141450335	0.354000|0.354000	0.24912|0.24912	0.002000|0.002000	0.10522|0.10522	0.113000|0.113000	0.19764|0.19764	-0.453000|-0.453000	0.06778|0.06778	-2.546000|-2.546000	0.00482|0.00482	-0.391000|-0.391000	0.06502|0.06502	GCG|CGC		0.597	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		25	41	0	0	0	1	0	25	41				
NINL	22981	broad.mit.edu	37	20	25491316	25491316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25491316C>T	ENST00000278886.6	-	5	584	c.511G>A	c.(511-513)Gca>Aca	p.A171T	NINL_ENST00000422516.1_Missense_Mutation_p.A171T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	171					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTACCTTGTGCTTCAAATAAT	0.502																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(511-513)Gca>Aca		ninein-like							181.0	155.0	164.0					20																	25491316		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25491316C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.511G>A	20.37:g.25491316C>T	ENSP00000278886:p.Ala171Thr					NINL_ENST00000422516.1_Missense_Mutation_p.A171T	p.A171T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			5	584	-			171					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.511G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525026	0.44969	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.38560	1.43;1.13	5.25	3.19	0.36642	.	0.237925	0.35970	N	0.002871	T	0.33265	0.0857	L	0.55990	1.75	0.32008	N	0.602452	P;P	0.42518	0.782;0.635	B;B	0.34652	0.187;0.14	T	0.49762	-0.8905	10	0.39692	T	0.17	-15.3549	11.1668	0.48547	0.0:0.8245:0.0:0.1755	.	171;171	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	T	171	ENSP00000278886:A171T;ENSP00000410431:A171T	ENSP00000278886:A171T	A	-	1	0	NINL	25439316	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	0.935000	0.28924	1.445000	0.47624	0.655000	0.94253	GCA		0.502	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		39	61	0	0	0	1	0	39	61				
SERPINA11	256394	broad.mit.edu	37	14	94914893	94914893	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914893G>T	ENST00000334708.3	-	2	283	c.219C>A	c.(217-219)atC>atA	p.I73I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCGAGAAGAAGATGTTTCCGG	0.567																																						ENST00000334708.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(217-219)atC>atA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11							119.0	124.0	122.0					14																	94914893		2203	4300	6503	SO:0001819	synonymous_variant	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914893G>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.219C>A	14.37:g.94914893G>T						RP11-349I1.2_ENST00000536735.1_RNA	p.I73I	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	283	-			73					B2RV07	Silent	SNP	ENST00000334708.3	37	c.219C>A	CCDS32149.1																																																																																				0.567	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		11	154	1	0	3.86212e-05	1	4.30401e-05	11	154				
TNIK	23043	broad.mit.edu	37	3	170819285	170819285	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170819285G>A	ENST00000436636.2	-	22	2888	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	TNIK_ENST00000488470.1_Silent_p.S793S|TNIK_ENST00000284483.8_Silent_p.S840S|TNIK_ENST00000357327.5_Silent_p.S819S|TNIK_ENST00000369326.5_Silent_p.S826S|TNIK_ENST00000475336.1_Silent_p.S756S|TNIK_ENST00000538048.1_Silent_p.S800S|TNIK_ENST00000341852.6_Silent_p.S764S|TNIK_ENST00000470834.1_Silent_p.S811S|TNIK_ENST00000460047.1_Silent_p.S785S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	848	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S848S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATGGGTCTCGCTCTCTCCAT	0.488																																						ENST00000436636.2																			2	Substitution - coding silent(2)	p.S848S(2)	endometrium(2)	cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2542-2544)agC>agT		TRAF2 and NCK interacting kinase							325.0	324.0	324.0					3																	170819285		2106	4244	6350	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819285G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2544C>T	3.37:g.170819285G>A						TNIK_ENST00000284483.8_Silent_p.S840S|TNIK_ENST00000470834.1_Silent_p.S811S|TNIK_ENST00000357327.5_Silent_p.S819S|TNIK_ENST00000538048.1_Silent_p.S800S|TNIK_ENST00000341852.6_Silent_p.S764S|TNIK_ENST00000488470.1_Silent_p.S793S|TNIK_ENST00000475336.1_Silent_p.S756S|TNIK_ENST00000460047.1_Silent_p.S785S|TNIK_ENST00000369326.5_Silent_p.S826S	p.S848S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2888	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		848			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.2544C>T	CCDS46956.1																																																																																				0.488	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		104	192	0	0	0	1	0	104	192				
OPA1	4976	broad.mit.edu	37	3	193336716	193336716	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193336716T>G	ENST00000392438.3	+	5	849	c.615T>G	c.(613-615)caT>caG	p.H205Q	OPA1_ENST00000361510.2_Missense_Mutation_p.H223Q|OPA1_ENST00000361908.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361828.2_Missense_Mutation_p.H223Q|OPA1_ENST00000361715.2_Missense_Mutation_p.H187Q|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000487986.1_3'UTR|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361150.2_Missense_Mutation_p.H169Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	205					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGACAAGCATTTTAGAAAGG	0.333																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(667-669)caT>caG		optic atrophy 1 (autosomal dominant)							126.0	127.0	127.0					3																	193336716		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193336716T>G	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.615T>G	3.37:g.193336716T>G	ENSP00000376233:p.His205Gln					OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000392438.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361908.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361828.2_Missense_Mutation_p.H223Q|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Missense_Mutation_p.H169Q|OPA1_ENST00000361715.2_Missense_Mutation_p.H187Q|OPA1-AS1_ENST00000444085.1_RNA	p.H223Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	6	903	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		205					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.669T>G	CCDS43186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.968|0.968	-0.701102|-0.701102	0.03255|0.03255	.|.	.|.	ENSG00000198836|ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000419435;ENST00000392436|ENST00000434811	D;D;D;D;D;D;T;T|.	0.94330|.	-3.0;-2.98;-2.99;-3.03;-2.98;-3.4;2.07;-0.67|.	5.63|5.63	-3.94|-3.94	0.04130|0.04130	.|.	0.978013|.	0.08312|.	N|.	0.965218|.	T|T	0.09818|0.09818	0.0241|0.0241	N|N	0.05383|0.05383	-0.06|-0.06	0.24690|0.24690	N|N	0.993314|0.993314	B;B;B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B;B|.	0.04013|.	0.001;0.0;0.0;0.0;0.0;0.001;0.001;0.001|.	T|T	0.29427|0.29427	-1.0012|-1.0012	10|5	0.10377|.	T|.	0.69|.	-0.1649|-0.1649	0.6433|0.6433	0.00814|0.00814	0.2281:0.1841:0.3322:0.2557|0.2281:0.1841:0.3322:0.2557	.|.	169;205;187;169;223;205;187;223|.	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5|.	.;OPA1_HUMAN;.;.;.;.;.;.|.	Q|S	205;205;223;187;223;169;81;223|123	ENSP00000354681:H205Q;ENSP00000376233:H205Q;ENSP00000355324:H223Q;ENSP00000355311:H187Q;ENSP00000354429:H223Q;ENSP00000354781:H169Q;ENSP00000399877:H81Q;ENSP00000376231:H223Q|.	ENSP00000354781:H169Q|.	H|I	+|+	3|2	2|0	OPA1|OPA1	194819410|194819410	0.799000|0.799000	0.28903|0.28903	0.697000|0.697000	0.30258|0.30258	0.442000|0.442000	0.32017|0.32017	-0.166000|-0.166000	0.09954|0.09954	-0.179000|-0.179000	0.10654|0.10654	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.333	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		11	110	0	0	0	1	0	11	110				
TRIP12	9320	broad.mit.edu	37	2	230656709	230656709	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230656709A>G	ENST00000283943.5	-	28	4241	c.4063T>C	c.(4063-4065)Tat>Cat	p.Y1355H	TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1403H|TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1085H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1355					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTCATGTTATACGGCAGCAAA	0.423																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4063-4065)Tat>Cat		thyroid hormone receptor interactor 12							150.0	146.0	147.0					2																	230656709		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230656709A>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4063T>C	2.37:g.230656709A>G	ENSP00000283943:p.Tyr1355His					TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1085H|TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1403H	p.Y1355H	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	28	4241	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1355					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4063T>C	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.455770	0.63401	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.50001	0.76;1.11;0.76	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	L	0.38953	1.18	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.72982	0.979;0.979;0.979	T	0.59726	-0.7400	10	0.48119	T	0.1	.	16.1253	0.81392	1.0:0.0:0.0:0.0	.	1085;1403;1355	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	1355;1085;1403	ENSP00000283943:Y1355H;ENSP00000373697:Y1085H;ENSP00000373696:Y1403H	ENSP00000283943:Y1355H	Y	-	1	0	TRIP12	230364953	1.000000	0.71417	0.792000	0.32020	0.661000	0.39034	8.911000	0.92721	2.195000	0.70347	0.528000	0.53228	TAT		0.423	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		60	71	0	0	0	1	0	60	71				
RREB1	6239	broad.mit.edu	37	6	7230522	7230522	+	Silent	SNP	C	C	T	rs199932819		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7230522C>T	ENST00000349384.6	+	10	2504	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	RREB1_ENST00000379933.3_Silent_p.I730I|RREB1_ENST00000334984.6_Silent_p.I730I|RREB1_ENST00000379938.2_Silent_p.I730I	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	730					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAAGGATATCGAGAAGAACA	0.617																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2188-2190)atC>atT		ras responsive element binding protein 1							82.0	74.0	77.0					6																	7230522		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230522C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2190C>T	6.37:g.7230522C>T						RREB1_ENST00000349384.6_Silent_p.I730I|RREB1_ENST00000379933.3_Silent_p.I730I|RREB1_ENST00000334984.6_Silent_p.I730I	p.I730I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2727	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	730					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2190C>T	CCDS34336.1																																																																																				0.617	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			23	29	0	0	0	1	0	23	29				
TENM1	10178	broad.mit.edu	37	X	124097529	124097529	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:124097529C>T	ENST00000371130.3	-	1	137	c.74G>A	c.(73-75)aGt>aAt	p.S25N	TENM1_ENST00000422452.2_Missense_Mutation_p.S25N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	25	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATCAGAAGAACTGGTGTAAGC	0.443																																						ENST00000422452.2																			0											c.(73-75)aGt>aAt		teneurin transmembrane protein 1							289.0	256.0	268.0					X																	124097529		2203	4300	6503	SO:0001583	missense	10178							g.chrX:124097529C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.74G>A	X.37:g.124097529C>T	ENSP00000360171:p.Ser25Asn					TENM1_ENST00000371130.3_Missense_Mutation_p.S25N	p.S25N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					1	137	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.74G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106517	0.77096	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.41065	1.01;1.01	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	L	0.38838	1.175	0.54753	D	0.999987	D;D;D	0.63880	0.991;0.991;0.993	D;D;P	0.76575	0.988;0.988;0.867	T	0.51044	-0.8755	10	0.34782	T	0.22	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	25;25;25	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	25	ENSP00000360171:S25N;ENSP00000403954:S25N	ENSP00000360171:S25N	S	-	2	0	ODZ1	123925210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.221000	0.78016	2.417000	0.82017	0.600000	0.82982	AGT		0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		122	175	0	0	0	1	0	122	175				
CYP2C9	1559	broad.mit.edu	37	10	96701682	96701682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96701682G>A	ENST00000260682.6	+	2	248	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	79					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTGCTGCATGGATATGAAGCA	0.463																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(235-237)gGa>gAa		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						288.0	273.0	278.0					10																	96701682		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701682G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.236G>A	10.37:g.96701682G>A	ENSP00000260682:p.Gly79Glu					CYP2C9_ENST00000461906.1_3'UTR	p.G79E	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	2	248	+		Colorectal(252;0.0902)	79					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.236G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	16.31	3.088620	0.55968	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.13307	2.6	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	T	0.45558	0.1348	M	0.93420	3.415	0.41541	D	0.988512	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.60571	-0.7237	10	0.72032	D	0.01	.	12.4947	0.55921	0.0:0.0:1.0:0.0	.	79;79;79	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	E	79	ENSP00000260682:G79E	ENSP00000260682:G79E	G	+	2	0	CYP2C9	96691672	1.000000	0.71417	0.994000	0.49952	0.371000	0.29859	8.053000	0.89449	1.840000	0.53500	0.484000	0.47621	GGA		0.463	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		6	132	0	0	0	1	0	6	132				
VPS13B	157680	broad.mit.edu	37	8	100711875	100711875	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100711875A>G	ENST00000358544.2	+	36	6355	c.6244A>G	c.(6244-6246)Act>Gct	p.T2082A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T2057A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2082					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGTGAAGAGACTTCAGCCAT	0.383																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(6244-6246)Act>Gct		vacuolar protein sorting 13 homolog B (yeast)							92.0	92.0	92.0					8																	100711875		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100711875A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6244A>G	8.37:g.100711875A>G	ENSP00000351346:p.Thr2082Ala					VPS13B_ENST00000357162.2_Missense_Mutation_p.T2057A|VPS13B_ENST00000395996.1_3'UTR	p.T2082A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		36	6355	+	Breast(36;3.73e-07)		2082					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6244A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	2.067	-0.413898	0.04799	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68181	-0.31;-0.31	4.94	2.45	0.29901	.	0.252582	0.33813	N	0.004522	T	0.47801	0.1465	L	0.31926	0.97	0.19300	N	0.99998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19451	-1.0305	10	0.19147	T	0.46	.	6.2305	0.20732	0.7447:0.0:0.1325:0.1228	.	2057;2082	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	2057;2082	ENSP00000349685:T2057A;ENSP00000351346:T2082A	ENSP00000349685:T2057A	T	+	1	0	VPS13B	100781051	0.943000	0.32029	0.055000	0.19348	0.059000	0.15707	0.866000	0.27954	0.881000	0.35993	0.533000	0.62120	ACT		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		22	52	0	0	0	1	0	22	52				
YTHDC2	64848	broad.mit.edu	37	5	112926833	112926833	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112926833G>T	ENST00000161863.4	+	27	4134	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1307	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTCAACAGAAGGGTATCTGGT	0.403																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3919-3921)aaG>aaT		YTH domain containing 2							126.0	126.0	126.0					5																	112926833		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112926833G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3921G>T	5.37:g.112926833G>T	ENSP00000161863:p.Lys1307Asn						p.K1307N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	27	4134	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1307			YTH.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3921G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689957	0.48097	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.29397	1.57	5.39	0.499	0.16914	YTH domain (2);	0.053579	0.64402	D	0.000001	T	0.34716	0.0907	L	0.33485	1.01	0.80722	D	1	D	0.56968	0.978	P	0.58130	0.833	T	0.11084	-1.0602	10	0.66056	D	0.02	.	11.0864	0.48089	0.3852:0.0:0.6148:0.0	.	1307	Q9H6S0	YTDC2_HUMAN	N	1307;1217	ENSP00000161863:K1307N	ENSP00000161863:K1307N	K	+	3	2	YTHDC2	112954732	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.285000	0.18883	0.266000	0.21894	0.460000	0.39030	AAG		0.403	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		14	113	1	0	1.49906e-05	1	1.69169e-05	14	113				
MBTPS1	8720	broad.mit.edu	37	16	84126863	84126863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84126863C>A	ENST00000343411.3	-	6	1271	c.776G>T	c.(775-777)aGc>aTc	p.S259I	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	259	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCTCATGCTGGCTATCAC	0.468																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(775-777)aGc>aTc		membrane-bound transcription factor peptidase, site 1							89.0	80.0	83.0					16																	84126863		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84126863C>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.776G>T	16.37:g.84126863C>A	ENSP00000344223:p.Ser259Ile					MBTPS1_ENST00000569770.1_5'UTR	p.S259I	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			6	1271	-			259			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.776G>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024524	0.93518	.	.	ENSG00000140943	ENST00000343411	T	0.42131	0.98	5.09	5.09	0.68999	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77205	-0.2673	10	0.87932	D	0	-27.4728	18.5034	0.90889	0.0:1.0:0.0:0.0	.	259	Q14703	MBTP1_HUMAN	I	259	ENSP00000344223:S259I	ENSP00000344223:S259I	S	-	2	0	MBTPS1	82684364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.361000	0.80049	0.655000	0.94253	AGC		0.468	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		16	43	1	0	8.00594e-06	1	9.12844e-06	16	43				
NOTCH3	4854	broad.mit.edu	37	19	15291940	15291940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15291940G>A	ENST00000263388.2	-	18	2901	c.2826C>T	c.(2824-2826)ggC>ggT	p.G942G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	942	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acgagttcacgccgtccacac	0.677																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2824-2826)ggC>ggT		notch 3							20.0	24.0	22.0					19																	15291940		2203	4295	6498	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15291940G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2826C>T	19.37:g.15291940G>A							p.G942G	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		18	2901	-			942			EGF-like 24.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.2826C>T	CCDS12326.1																																																																																				0.677	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	5	0	0	0	1	0	6	5				
ZC3H11A	9877	broad.mit.edu	37	1	203798692	203798692	+	Missense_Mutation	SNP	G	G	A	rs142418357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203798692G>A	ENST00000545588.1	+	5	4239	c.412G>A	c.(412-414)Gtt>Att	p.V138I	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.V138I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.V138I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	138					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCGGAGCGTTATGAAAGT	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19009	0.0		0.0	False		,,,				2504	0.0					ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(412-414)Gtt>Att		zinc finger CCCH-type containing 11A							110.0	106.0	107.0					1																	203798692		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203798692G>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.412G>A	1.37:g.203798692G>A	ENSP00000438527:p.Val138Ile					ZC3H11A_ENST00000332127.4_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.V138I	p.V138I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	4239	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		138					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.412G>A	CCDS30978.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.1	4.497321	0.85069	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.87	4.01	0.46588	.	0.174414	0.49916	N	0.000130	T	0.65375	0.2685	M	0.61703	1.905	0.45733	D	0.998631	D	0.76494	0.999	D	0.63192	0.912	T	0.66052	-0.6019	10	0.51188	T	0.08	-5.3354	12.3174	0.54964	0.1399:0.0:0.8601:0.0	.	138	O75152	ZC11A_HUMAN	I	138;138;84;138;138;138;138	ENSP00000356183:V138I;ENSP00000356181:V138I;ENSP00000333253:V138I;ENSP00000438527:V138I;ENSP00000356179:V138I	ENSP00000333253:V138I	V	+	1	0	ZC3H11A	202065315	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	4.681000	0.61663	0.949000	0.37715	0.655000	0.94253	GTT		0.463	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		9	114	0	0	0	1	0	9	114				
MRPS5	64969	broad.mit.edu	37	2	95756194	95756194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95756194C>A	ENST00000272418.2	-	11	1213	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	335					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCAGAGACCTTGGCATACA	0.542																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1003-1005)aaG>aaT		mitochondrial ribosomal protein S5							110.0	112.0	112.0					2																	95756194		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95756194C>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1005G>T	2.37:g.95756194C>A	ENSP00000272418:p.Lys335Asn						p.K335N	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			11	1213	-			335					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.1005G>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894005	0.72639	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.09	5.09	0.68999	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5, C-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.110900	0.64402	D	0.000017	T	0.80555	0.4645	M	0.83384	2.64	0.54753	D	0.999986	D	0.69078	0.997	D	0.75484	0.986	D	0.83852	0.0263	9	0.87932	D	0	-11.6158	15.9692	0.79998	0.0:1.0:0.0:0.0	.	335	P82675	RT05_HUMAN	N	335	.	ENSP00000272418:K335N	K	-	3	2	MRPS5	95119921	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	1.568000	0.36418	2.360000	0.80028	0.591000	0.81541	AAG		0.542	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		8	127	1	0	0.00448238	1	0.00472561	8	127				
GAB4	128954	broad.mit.edu	37	22	17488898	17488898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17488898C>A	ENST00000400588.1	-	1	214	c.107G>T	c.(106-108)aGa>aTa	p.R36I	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	36										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGCCACTTCTCGTGCTTCC	0.682																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(106-108)aGa>aTa		GRB2-associated binding protein family, member 4							16.0	21.0	19.0					22																	17488898		2076	4219	6295	SO:0001583	missense	128954							g.chr22:17488898C>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.107G>T	22.37:g.17488898C>A	ENSP00000383431:p.Arg36Ile						p.R36I	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			1	214	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	36						Missense_Mutation	SNP	ENST00000400588.1	37	c.107G>T	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	2.015	-0.426134	0.04701	.	.	ENSG00000215568	ENST00000400588	T	0.10960	2.82	1.05	-2.1	0.07210	.	0.448473	0.21782	N	0.069197	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.25047	-1.0143	10	0.49607	T	0.09	.	3.2286	0.06740	0.0:0.4168:0.2559:0.3273	.	36	Q2WGN9	GAB4_HUMAN	I	36	ENSP00000383431:R36I	ENSP00000383431:R36I	R	-	2	0	GAB4	15868898	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-0.513000	0.06305	-2.085000	0.00864	-2.178000	0.00318	AGA		0.682	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		3	5	1	0	0.184627	1	0.186383	3	5				
IL1RL1	9173	broad.mit.edu	37	2	102968195	102968195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102968195G>A	ENST00000233954.1	+	11	1756	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	495	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGCTGAGGCGCTTCAGGACT	0.527																																						ENST00000233954.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1483-1485)gcG>gcA		interleukin 1 receptor-like 1							57.0	52.0	53.0					2																	102968195		2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968195G>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1485G>A	2.37:g.102968195G>A							p.A495A	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN			11	1756	+			495			TIR.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.1485G>A	CCDS2057.1																																																																																				0.527	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		11	24	0	0	0	1	0	11	24				
MPP2	4355	broad.mit.edu	37	17	41975705	41975705	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41975705G>T	ENST00000461854.1	-	3	160	c.75C>A	c.(73-75)gcC>gcA	p.A25A	MPP2_ENST00000523501.1_Silent_p.A14A|MPP2_ENST00000518766.1_Silent_p.A70A|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000536246.1_Silent_p.A14A|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000269095.4_Silent_p.A25A|MPP2_ENST00000377184.3_Silent_p.A42A			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	25	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGCCCCCGTGGCACTGGGGA	0.577																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(73-75)gcC>gcA		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							101.0	87.0	92.0					17																	41975705		2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41975705G>T		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.75C>A	17.37:g.41975705G>T						MPP2_ENST00000518766.1_Silent_p.A70A|MPP2_ENST00000523501.1_Silent_p.A14A|MPP2_ENST00000461854.1_Silent_p.A25A|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000377184.3_Silent_p.A42A|MPP2_ENST00000536246.1_Silent_p.A14A	p.A25A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	3	379	-		Breast(137;0.00314)	25			L27 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.75C>A																																																																																					0.577	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		19	24	1	0	2.4624e-09	1	2.98951e-09	19	24				
LRRC32	2615	broad.mit.edu	37	11	76372121	76372121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76372121C>T	ENST00000407242.2	-	3	758	c.516G>A	c.(514-516)atG>atA	p.M172I	LRRC32_ENST00000260061.5_Missense_Mutation_p.M172I|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.M172I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	172					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCAGCGCAGGCATGTCCCGGA	0.647																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(514-516)atG>atA		leucine rich repeat containing 32							89.0	84.0	86.0					11																	76372121		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372121C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.516G>A	11.37:g.76372121C>T	ENSP00000384126:p.Met172Ile					LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.M172I|LRRC32_ENST00000404995.1_Missense_Mutation_p.M172I|AP001189.4_ENST00000447519.1_RNA	p.M172I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	758	-			172					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.516G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	0.867	-0.733173	0.03135	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.58652	0.32;0.32;0.32;0.35	4.43	-1.04	0.10068	.	0.485095	0.23046	N	0.052541	T	0.35068	0.0919	L	0.31664	0.95	0.09310	N	1	B;B	0.15473	0.012;0.013	B;B	0.16722	0.01;0.016	T	0.09271	-1.0682	10	0.37606	T	0.19	.	2.03	0.03527	0.146:0.4359:0.1033:0.3147	.	172;172	C9JYU3;Q14392	.;LRC32_HUMAN	I	172	ENSP00000260061:M172I;ENSP00000384126:M172I;ENSP00000385766:M172I;ENSP00000413331:M172I	ENSP00000260061:M172I	M	-	3	0	LRRC32	76049769	0.133000	0.22466	0.122000	0.21767	0.486000	0.33341	-0.249000	0.08842	-0.062000	0.13088	0.462000	0.41574	ATG		0.647	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		26	33	0	0	0	1	0	26	33				
HUWE1	10075	broad.mit.edu	37	X	53612074	53612074	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53612074G>A	ENST00000342160.3	-	39	5356	c.4899C>T	c.(4897-4899)agC>agT	p.S1633S	HUWE1_ENST00000218328.8_Silent_p.S1633S|HUWE1_ENST00000262854.6_Silent_p.S1633S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1633	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTATTGTTGCTTGCACTGT	0.458																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4897-4899)agC>agT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							222.0	172.0	189.0					X																	53612074		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53612074G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4899C>T	X.37:g.53612074G>A						HUWE1_ENST00000262854.6_Silent_p.S1633S|HUWE1_ENST00000218328.8_Silent_p.S1633S	p.S1633S			Q7Z6Z7	HUWE1_HUMAN			39	5356	-			1633			WWE.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.4899C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277766	0.23307	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.61	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1305	0.31024	0.2591:0.0:0.7409:0.0	.	.	.	.	X	667	.	.	Q	-	1	0	HUWE1	53628799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.326000	0.43849	0.546000	0.28920	0.600000	0.82982	CAA		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		60	71	0	0	0	1	0	60	71				
KMT2C	58508	broad.mit.edu	37	7	151853385	151853385	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151853385G>T	ENST00000262189.6	-	45	11935	c.11717C>A	c.(11716-11718)cCt>cAt	p.P3906H	KMT2C_ENST00000355193.2_Missense_Mutation_p.P3963H|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3906					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGTGGTGTAGGAGGAAGAGA	0.438																																						ENST00000355193.2																			0											c.(11887-11889)cCt>cAt		lysine (K)-specific methyltransferase 2C							90.0	92.0	91.0					7																	151853385		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151853385G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11717C>A	7.37:g.151853385G>T	ENSP00000262189:p.Pro3906His					KMT2C_ENST00000262189.6_Missense_Mutation_p.P3906H	p.P3963H							46	12106	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11888C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154397	0.78114	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000418061	D;D	0.96830	-4.14;-4.01	5.93	5.93	0.95920	.	0.000000	0.42172	U	0.000747	D	0.98093	0.9371	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98431	1.0582	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	3906;3024;3963	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	H	3906;3963;32	ENSP00000262189:P3906H;ENSP00000347325:P3963H	ENSP00000262189:P3906H	P	-	2	0	MLL3	151484318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.826000	0.97356	0.655000	0.94253	CCT		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	106	1	0	7.48243e-07	1	8.70085e-07	7	106				
CERS4	79603	broad.mit.edu	37	19	8320711	8320711	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8320711G>A	ENST00000251363.5	+	6	716	c.416G>A	c.(415-417)aGg>aAg	p.R139K	CERS4_ENST00000559450.1_Missense_Mutation_p.R139K|CERS4_ENST00000558331.1_Missense_Mutation_p.R88K|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.R139K	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	139	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CACAGCTGGAGGTTTCTCTTC	0.622																																						ENST00000558331.1																			0											c.(262-264)aGg>aAg		ceramide synthase 4							86.0	80.0	82.0					19																	8320711		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8320711G>A		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.416G>A	19.37:g.8320711G>A	ENSP00000251363:p.Arg139Lys					CERS4_ENST00000559450.1_Missense_Mutation_p.R139K|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.R139K|CERS4_ENST00000251363.5_Missense_Mutation_p.R139K	p.R88K			Q9HA82	CERS4_HUMAN			6	722	+			139					D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.263G>A	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989964	0.35131	.	.	ENSG00000090661	ENST00000251363	D	0.84800	-1.9	4.42	2.26	0.28386	TRAM/LAG1/CLN8 homology domain (3);	0.050762	0.85682	N	0.000000	T	0.77205	0.4096	L	0.31157	0.91	0.52501	D	0.999951	B;B	0.27229	0.151;0.172	B;B	0.37888	0.26;0.258	T	0.64740	-0.6336	10	0.27785	T	0.31	-26.5112	6.8044	0.23768	0.2222:0.0:0.7778:0.0	.	139;139	Q53HF9;Q9HA82	.;CERS4_HUMAN	K	139	ENSP00000251363:R139K	ENSP00000251363:R139K	R	+	2	0	CERS4	8226711	1.000000	0.71417	0.852000	0.33557	0.110000	0.19582	4.666000	0.61554	0.326000	0.23384	0.491000	0.48974	AGG		0.622	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		10	24	0	0	0	1	0	10	24				
SLC22A24	283238	broad.mit.edu	37	11	62911081	62911081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62911081G>A	ENST00000417740.1	-	1	612	c.171C>T	c.(169-171)gaC>gaT	p.D57D	SLC22A24_ENST00000326192.5_Silent_p.D57D|SLC22A10_ENST00000525620.1_Intron	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	57					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CAGACACAGTGTCATTGTCCA	0.517																																						ENST00000417740.1																			0				kidney(1)|stomach(1)	2						c.(169-171)gaC>gaT		solute carrier family 22, member 24							115.0	114.0	114.0					11																	62911081		692	1591	2283	SO:0001819	synonymous_variant	283238							g.chr11:62911081G>A		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.171C>T	11.37:g.62911081G>A						SLC22A24_ENST00000326192.5_Silent_p.D57D|SLC22A10_ENST00000525620.1_Intron	p.D57D	NM_001136506.2	NP_001129978.2					1	612	-									Silent	SNP	ENST00000417740.1	37	c.171C>T																																																																																					0.517	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		3	18	0	0	0	1	0	3	18				
TET3	200424	broad.mit.edu	37	2	74274574	74274574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274574G>T	ENST00000409262.3	+	1	1125	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	375					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCAGAGGGAGGCTCCCACGC	0.662																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1123-1125)gaG>gaT		tet methylcytosine dioxygenase 3							36.0	46.0	43.0					2																	74274574		2054	4177	6231	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274574G>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1125G>T	2.37:g.74274574G>T	ENSP00000386869:p.Glu375Asp						p.E375D	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1125	+			375					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1125G>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	5.739	0.320859	0.10845	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.24538	1.85;2.69	4.76	3.88	0.44766	.	.	.	.	.	T	0.13329	0.0323	N	0.14661	0.345	0.25101	N	0.990785	P	0.48764	0.915	B	0.39465	0.3	T	0.05550	-1.0878	9	0.37606	T	0.19	.	6.621	0.22802	0.2715:0.0:0.7285:0.0	.	375	O43151	TET3_HUMAN	D	417;375;375	ENSP00000307803:E417D;ENSP00000386869:E375D	ENSP00000233310:E375D	E	+	3	2	TET3	74128082	0.998000	0.40836	0.964000	0.40570	0.065000	0.16274	2.774000	0.47694	1.360000	0.45960	0.655000	0.94253	GAG		0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	10	1	0	1.58986e-06	1	1.84011e-06	11	10				
ADCY10	55811	broad.mit.edu	37	1	167778997	167778997	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167778997A>C	ENST00000367851.4	-	33	4935	c.4751T>G	c.(4750-4752)aTt>aGt	p.I1584S	ADCY10_ENST00000367848.1_Missense_Mutation_p.I1492S|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1431S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1584					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTGCTACAATTTTTTCCCA	0.388																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(4474-4476)aTt>aGt		adenylate cyclase 10 (soluble)							139.0	130.0	133.0					1																	167778997		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167778997A>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4751T>G	1.37:g.167778997A>C	ENSP00000356825:p.Ile1584Ser					ADCY10_ENST00000367851.4_Missense_Mutation_p.I1584S|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1431S	p.I1492S			Q96PN6	ADCYA_HUMAN			33	4972	-			1584					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.4475T>G	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142369	0.57044	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.36520	1.25;1.26;1.26	5.54	5.54	0.83059	.	0.111584	0.40302	N	0.001122	T	0.32882	0.0844	L	0.60455	1.87	0.34488	D	0.704646	D;D	0.61080	0.989;0.964	P;P	0.52957	0.714;0.522	T	0.24154	-1.0168	9	0.35671	T	0.21	-14.4612	12.0681	0.53601	1.0:0.0:0.0:0.0	.	1492;1584	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	S	1431;1584;1492	ENSP00000441992:I1431S;ENSP00000356825:I1584S;ENSP00000356822:I1492S	ENSP00000356822:I1492S	I	-	2	0	ADCY10	166045621	0.010000	0.17322	0.006000	0.13384	0.020000	0.10135	2.719000	0.47244	2.107000	0.64212	0.533000	0.62120	ATT		0.388	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		41	53	0	0	0	1	0	41	53				
DSP	1832	broad.mit.edu	37	6	7581571	7581571	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581571G>C	ENST00000379802.3	+	23	5489	c.5148G>C	c.(5146-5148)gaG>gaC	p.E1716D	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1716	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCAAGGAGCACTTGATGT	0.453																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5146-5148)gaG>gaC		desmoplakin							117.0	121.0	119.0					6																	7581571		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581571G>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5148G>C	6.37:g.7581571G>C	ENSP00000369129:p.Glu1716Asp					DSP_ENST00000418664.2_Intron	p.E1716D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5489	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1716			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5148G>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669644	0.47677	.	.	ENSG00000096696	ENST00000379802	T	0.73152	-0.72	5.88	3.76	0.43208	.	0.000000	0.64402	D	0.000004	T	0.58652	0.2137	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.57952	-0.7722	10	0.17832	T	0.49	.	6.9958	0.24782	0.3403:0.0:0.6597:0.0	.	1716	P15924	DESP_HUMAN	D	1716	ENSP00000369129:E1716D	ENSP00000369129:E1716D	E	+	3	2	DSP	7526570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.017000	0.40981	1.472000	0.48140	0.561000	0.74099	GAG		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		33	65	0	0	0	1	0	33	65				
PCDHB7	56129	broad.mit.edu	37	5	140554318	140554318	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554318C>T	ENST00000231137.3	+	1	2076	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(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)			GCGAGCGCGACGCAGCCAAGC	0.692																																						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.(1900-1902)gaC>gaT									41.0	64.0	56.0					5																	140554318		2158	4274	6432	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554318C>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.1902C>T	5.37:g.140554318C>T							p.D634D	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2076	+			634			Cadherin 6.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1902C>T	CCDS4249.1																																																																																				0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		23	87	0	0	0	1	0	23	87				
CD44	960	broad.mit.edu	37	11	35198194	35198194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35198194C>T	ENST00000428726.2	+	2	263	c.140C>T	c.(139-141)aCg>aTg	p.T47M	CD44_ENST00000278386.6_Missense_Mutation_p.T47M|CD44_ENST00000360158.4_Missense_Mutation_p.T47M|CD44_ENST00000263398.6_Missense_Mutation_p.T47M|CD44_ENST00000526025.1_Missense_Mutation_p.T47M|CD44_ENST00000449691.2_Missense_Mutation_p.T47M|CD44_ENST00000433892.2_Missense_Mutation_p.T47M|CD44_ENST00000434472.2_Missense_Mutation_p.T47M|CD44_ENST00000437706.2_Missense_Mutation_p.T47M|CD44_ENST00000352818.4_Missense_Mutation_p.T47M|CD44_ENST00000433354.2_Missense_Mutation_p.T47M|CD44_ENST00000526669.2_Missense_Mutation_p.T47M|CD44_ENST00000415148.2_Missense_Mutation_p.T47M	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	47	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	ATCTCTCGGACGGAGGCCGCT	0.483																																						ENST00000263398.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(139-141)aCg>aTg		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						51.0	49.0	50.0					11																	35198194		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35198194C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.140C>T	11.37:g.35198194C>T	ENSP00000398632:p.Thr47Met					CD44_ENST00000526669.2_Missense_Mutation_p.T47M|CD44_ENST00000526025.1_Missense_Mutation_p.T47M|CD44_ENST00000278386.6_Missense_Mutation_p.T47M|CD44_ENST00000415148.2_Missense_Mutation_p.T47M|CD44_ENST00000352818.4_Missense_Mutation_p.T47M|CD44_ENST00000434472.2_Missense_Mutation_p.T47M|CD44_ENST00000428726.2_Missense_Mutation_p.T47M|CD44_ENST00000449691.2_Missense_Mutation_p.T47M|CD44_ENST00000433892.2_Missense_Mutation_p.T47M|CD44_ENST00000433354.2_Missense_Mutation_p.T47M|CD44_ENST00000360158.4_Missense_Mutation_p.T47M|CD44_ENST00000437706.2_Missense_Mutation_p.T47M	p.T47M	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		2	574	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	47			Link.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.140C>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.385428|3.385428	0.61956|0.61956	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000527889|ENST00000263398;ENST00000526025;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000278386;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526669;ENST00000526000;ENST00000279452	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.08546	.|3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.85|5.85	4.94|4.94	0.65067|0.65067	.|C-type lectin fold (1);Link (4);C-type lectin-like (1);	.|0.232873	.|0.38778	.|N	.|0.001566	T|T	0.23492|0.23492	0.0568|0.0568	M|M	0.71206|0.71206	2.165|2.165	0.09310|0.09310	N|N	0.999992|0.999992	.|D;D;D;D;D;D;D	.|0.89917	.|0.995;1.0;1.0;1.0;1.0;0.997;0.998	.|D;D;D;D;D;D;D	.|0.83275	.|0.924;0.979;0.996;0.981;0.986;0.99;0.948	T|T	0.08743|0.08743	-1.0707|-1.0707	5|10	.|0.87932	.|D	.|0	-3.7959|-3.7959	6.8989|6.8989	0.24271|0.24271	0.1747:0.74:0.0:0.0853|0.1747:0.74:0.0:0.0853	.|.	.|47;47;47;47;47;47;47	.|B6EAT9;P16070-11;O95370;P16070-12;P16070-10;P16070-4;P16070	.|.;.;.;.;.;.;CD44_HUMAN	W|M	3|47;47;47;47;47;47;47;47;47;47;47;47;26;26;25;7	.|ENSP00000263398:T47M;ENSP00000435377:T47M;ENSP00000389830:T47M;ENSP00000414567:T47M;ENSP00000391008:T47M;ENSP00000403990:T47M;ENSP00000353280:T47M;ENSP00000398632:T47M;ENSP00000392331:T47M;ENSP00000278386:T47M;ENSP00000404447:T47M;ENSP00000309732:T47M;ENSP00000432405:T26M;ENSP00000434465:T25M;ENSP00000279452:T7M	.|ENSP00000263398:T47M	R|T	+|+	1|2	2|0	CD44|CD44	35154770|35154770	0.098000|0.098000	0.21812|0.21812	0.702000|0.702000	0.30337|0.30337	0.964000|0.964000	0.63967|0.63967	1.299000|1.299000	0.33424|0.33424	2.771000|2.771000	0.95319|0.95319	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.483	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		12	26	0	0	0	1	0	12	26				
ALDH8A1	64577	broad.mit.edu	37	6	135250346	135250346	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135250346A>C	ENST00000265605.2	-	6	925	c.857T>G	c.(856-858)aTc>aGc	p.I286S	ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.I236S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	286					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACAGAGACAGATTTCACCCTG	0.463																																						ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(856-858)aTc>aGc		aldehyde dehydrogenase 8 family, member A1							60.0	57.0	58.0					6																	135250346		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135250346A>C	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.857T>G	6.37:g.135250346A>C	ENSP00000265605:p.Ile286Ser					ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.I236S	p.I286S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	6	925	-	Colorectal(23;0.221)		286					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.857T>G	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369505	0.82463	.	.	ENSG00000118514	ENST00000265605;ENST00000367847	T;T	0.30448	1.53;1.53	5.76	5.76	0.90799	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.043292	0.85682	D	0.000000	T	0.36963	0.0986	L	0.35793	1.09	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.72338	0.977;0.977	T	0.22730	-1.0208	10	0.59425	D	0.04	.	16.0659	0.80870	1.0:0.0:0.0:0.0	.	236;286	B7Z521;Q9H2A2	.;AL8A1_HUMAN	S	286;236	ENSP00000265605:I286S;ENSP00000356821:I236S	ENSP00000265605:I286S	I	-	2	0	ALDH8A1	135292039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.209000	0.71365	0.533000	0.62120	ATC		0.463	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			14	21	0	0	0	1	0	14	21				
MACROD2	140733	broad.mit.edu	37	20	15948229	15948229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15948229C>T	ENST00000310348.4	+	13	939	c.939C>T	c.(937-939)ggC>ggT	p.G313G	MACROD2_ENST00000217246.4_Silent_p.G313G|MACROD2_ENST00000378058.3_Silent_p.G78G|MACROD2_ENST00000402914.1_Silent_p.G78G			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	313	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTACAAAAGGCGGTGAAGTGA	0.378																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(937-939)ggC>ggT		MACRO domain containing 2							125.0	127.0	126.0					20																	15948229		2203	4300	6503	SO:0001819	synonymous_variant	140733							g.chr20:15948229C>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.939C>T	20.37:g.15948229C>T						MACROD2_ENST00000402914.1_Silent_p.G78G|MACROD2_ENST00000310348.4_Silent_p.G313G|MACROD2_ENST00000378058.3_Silent_p.G78G	p.G313G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			13	1334	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	313			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	c.939C>T	CCDS13120.2																																																																																				0.378	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		28	45	0	0	0	1	0	28	45				
NUP43	348995	broad.mit.edu	37	6	150059820	150059820	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150059820A>C	ENST00000340413.2	-	5	673	c.597T>G	c.(595-597)gaT>gaG	p.D199E	NUP43_ENST00000367404.4_Intron|NUP43_ENST00000367403.3_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.D199E	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	199					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTTGTCTGAAATCCCATATTT	0.338																																						ENST00000340413.2																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(595-597)gaT>gaG		nucleoporin 43kDa							131.0	122.0	125.0					6																	150059820		2203	4297	6500	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150059820A>C	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.597T>G	6.37:g.150059820A>C	ENSP00000342262:p.Asp199Glu					NUP43_ENST00000367403.3_Intron|NUP43_ENST00000367404.4_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.D199E	p.D199E	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	5	673	-		Ovarian(120;0.0164)	199					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.597T>G	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167310	0.78339	.	.	ENSG00000120253	ENST00000340413;ENST00000460354	T;T	0.73789	-0.78;-0.78	5.53	1.56	0.23342	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81028	-0.1118	10	0.87932	D	0	-22.5156	9.1452	0.36928	0.6376:0.0:0.3624:0.0	.	199	Q8NFH3	NUP43_HUMAN	E	199	ENSP00000342262:D199E;ENSP00000432401:D199E	ENSP00000342262:D199E	D	-	3	2	NUP43	150101513	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.209000	0.32357	0.029000	0.15352	0.372000	0.22366	GAT		0.338	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		11	63	0	0	0	1	0	11	63				
PDIA4	9601	broad.mit.edu	37	7	148718144	148718144	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148718144T>G	ENST00000286091.4	-	2	416	c.184A>C	c.(184-186)Aat>Cat	p.N62H		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	62	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGACTCCATTTTCTTCCTTA	0.433																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(184-186)Aat>Cat		protein disulfide isomerase family A, member 4							196.0	181.0	186.0					7																	148718144		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718144T>G	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.184A>C	7.37:g.148718144T>G	ENSP00000286091:p.Asn62His						p.N62H	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	416	-	Melanoma(164;0.15)		62			Thioredoxin 1.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.184A>C	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	t	16.60	3.168399	0.57584	.	.	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.40225	1.04;1.04	4.75	0.798	0.18660	Thioredoxin-like fold (3);	0.105864	0.64402	U	0.000007	T	0.42063	0.1186	M	0.70108	2.13	0.44409	D	0.997328	D	0.61080	0.989	P	0.47299	0.543	T	0.32903	-0.9889	10	0.59425	D	0.04	.	6.199	0.20565	0.0:0.1462:0.1344:0.7194	.	62	P13667	PDIA4_HUMAN	H	62;110	ENSP00000286091:N62H;ENSP00000408628:N110H	ENSP00000286091:N62H	N	-	1	0	PDIA4	148349077	1.000000	0.71417	0.817000	0.32601	0.879000	0.50718	3.320000	0.51991	0.210000	0.20664	-0.359000	0.07587	AAT		0.433	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		3	50	0	0	0	1	0	3	50				
SYNDIG1	79953	broad.mit.edu	37	20	24523832	24523832	+	Silent	SNP	C	C	T	rs200752294		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24523832C>T	ENST00000376862.3	+	2	732	c.99C>T	c.(97-99)gcC>gcT	p.A33A		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	33					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACTTGATGGCCGAGAGCAGAG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18283	0.001		0.0	False		,,,				2504	0.0					ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(97-99)gcC>gcT		synapse differentiation inducing 1							78.0	80.0	80.0					20																	24523832		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523832C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.99C>T	20.37:g.24523832C>T							p.A33A	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	732	+			33					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.99C>T	CCDS13164.1																																																																																				0.552	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		20	59	0	0	0	1	0	20	59				
VAV3	10451	broad.mit.edu	37	1	108319905	108319905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108319905C>A	ENST00000370056.4	-	4	668	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	VAV3_ENST00000527011.1_Nonsense_Mutation_p.E132*|VAV3_ENST00000371846.4_Nonsense_Mutation_p.E67*|AL591042.1_ENST00000579317.1_RNA|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	132					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTTTCTTCTGTTGGGAAG	0.378																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(394-396)Gaa>Taa		vav 3 guanine nucleotide exchange factor							113.0	112.0	112.0					1																	108319905		2203	4300	6503	SO:0001587	stop_gained	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108319905C>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.394G>T	1.37:g.108319905C>A	ENSP00000359073:p.Glu132*					VAV3_ENST00000371846.4_Nonsense_Mutation_p.E67*|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Nonsense_Mutation_p.E132*	p.E132*	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	4	668	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	132					B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	ENST00000370056.4	37	c.394G>T	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.957350|5.957350	0.97145|0.97145	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.052435|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69097	.|0.3073	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66767	.|-0.5840	.|3	0.46703|.	T|.	0.11|.	.|.	18.4647|18.4647	0.90750|0.90750	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	132;132;67|126	.|.	ENSP00000359073:E132X|.	E|Q	-|-	1|3	0|2	VAV3|VAV3	108121428|108121428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.226000|6.226000	0.72277|0.72277	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.378	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		17	46	1	0	2.37509e-13	1	3.01126e-13	17	46				
BICD2	23299	broad.mit.edu	37	9	95481452	95481452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481452C>T	ENST00000375512.3	-	5	1542	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N	BICD2_ENST00000356884.6_Missense_Mutation_p.S492N	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	492					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCTGGCGGCTGGCCTTCTC	0.672																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1474-1476)aGc>aAc		bicaudal D homolog 2 (Drosophila)							46.0	48.0	48.0					9																	95481452		2203	4299	6502	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481452C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1475G>A	9.37:g.95481452C>T	ENSP00000364662:p.Ser492Asn					BICD2_ENST00000375512.3_Missense_Mutation_p.S492N	p.S492N	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1542	-			492					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1475G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830485	0.71258	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.49432	0.78;0.78	5.39	5.39	0.77823	.	0.243441	0.51477	D	0.000095	T	0.48447	0.1500	L	0.39397	1.21	0.41257	D	0.986756	P;P	0.48834	0.897;0.916	P;P	0.53360	0.603;0.724	T	0.23833	-1.0177	10	0.15952	T	0.53	-32.512	12.715	0.57109	0.0:0.8344:0.1656:0.0	.	492;492	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	N	492	ENSP00000349351:S492N;ENSP00000364662:S492N	ENSP00000349351:S492N	S	-	2	0	BICD2	94521273	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.671000	0.37513	2.707000	0.92482	0.561000	0.74099	AGC		0.672	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		16	28	0	0	0	1	0	16	28				
LINC00264	645528	broad.mit.edu	37	10	26880238	26880238	+	lincRNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26880238G>A	ENST00000412114.1	+	0	473					NR_026793.1				long intergenic non-protein coding RNA 264																		CTCCCTCTCAGGACCTATAAA	0.423																																						ENST00000412114.1																			0																																																			0							g.chr10:26880238G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880238G>A								NR_026793.1						0	473	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.423	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		11	17	0	0	0	1	0	11	17				
ST7	7982	broad.mit.edu	37	7	116862958	116862958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116862958G>A	ENST00000265437.5	+	16	1896	c.1682G>A	c.(1681-1683)tGc>tAc	p.C561Y	ST7_ENST00000432298.1_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393444.3_Intron	NM_021908.2	NP_068708.1	Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTGGAATTGCAAGAGTATT	0.448																																						ENST00000265437.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21						c.(1681-1683)tGc>tAc		suppression of tumorigenicity 7							145.0	141.0	143.0					7																	116862958		2203	4300	6503	SO:0001583	missense	7982					integral to membrane	binding	g.chr7:116862958G>A	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000265437.5:c.1682G>A	7.37:g.116862958G>A	ENSP00000265437:p.Cys561Tyr					ST7_ENST00000393446.2_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000422922.1_Intron	p.C561Y	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	16	1896	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		561					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000265437.5	37	c.1682G>A	CCDS5770.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244009	0.22796	.	.	ENSG00000004866	ENST00000265437	T	0.17854	2.25	4.5	2.58	0.30949	.	0.433342	0.30365	N	0.009796	T	0.07548	0.0190	N	0.08118	0	0.80722	D	1	B;B	0.18013	0.025;0.025	B;B	0.17433	0.018;0.018	T	0.28299	-1.0048	10	0.24483	T	0.36	-1.9125	7.314	0.26491	0.0:0.1874:0.6185:0.194	.	538;561	B7Z573;Q9NRC1	.;ST7_HUMAN	Y	561	ENSP00000265437:C561Y	ENSP00000265437:C561Y	C	+	2	0	ST7	116650194	0.998000	0.40836	0.972000	0.41901	0.625000	0.37756	0.839000	0.27586	0.569000	0.29329	0.655000	0.94253	TGC		0.448	ST7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141622.1	NM_021908		14	146	0	0	0	1	0	14	146				
CTRL	1506	broad.mit.edu	37	16	67964672	67964672	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67964672C>T	ENST00000574481.1	-	4	836	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.S93fs*20(1)		kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTTTGATGATCGGTCATACTC	0.642																																						ENST00000574481.1																			1	Insertion - Frameshift(1)	p.S93fs*20(1)	large_intestine(1)	kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(274-276)cGa>cAa		chymotrypsin-like							65.0	67.0	66.0					16																	67964672		2198	4300	6498	SO:0001583	missense	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67964672C>T		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.275G>A	16.37:g.67964672C>T	ENSP00000458537:p.Arg92Gln					CTRL_ENST00000576408.1_5'UTR	p.R92Q	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	4	836	-		Ovarian(137;0.192)	92			Peptidase S1.			Missense_Mutation	SNP	ENST00000574481.1	37	c.275G>A	CCDS10852.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807333	0.31961	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.42	-6.15	0.02105	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.328530	0.28476	N	0.015212	T	0.24624	0.0597	L	0.45051	1.395	0.25996	N	0.982184	B	0.25351	0.124	B	0.20577	0.03	T	0.11446	-1.0587	9	0.24483	T	0.36	0.175	8.4054	0.32612	0.481:0.3444:0.0:0.1747	.	92	P40313	CTRL_HUMAN	Q	92	.	ENSP00000322629:R92Q	R	-	2	0	CTRL	66522173	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.272000	0.08560	-1.283000	0.02393	-2.134000	0.00341	CGA		0.642	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			19	27	0	0	0	1	0	19	27				
RNF32	140545	broad.mit.edu	37	7	156469001	156469001	+	Intron	SNP	G	G	A	rs550976049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156469001G>A	ENST00000405335.1	+	10	1261				RNF32_ENST00000392743.2_Intron|RNF32_ENST00000432459.2_Intron|RNF32_ENST00000317955.5_Intron|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000311822.8_Missense_Mutation_p.A289T|RNF32_ENST00000343665.4_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAAACTTCCGCATGTTTCGA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		15090	0.0		0.0	False		,,,				2504	0.001					ENST00000311822.8																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(865-867)Gca>Aca		ring finger protein 32																																				SO:0001627	intron_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156469001G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.853-112G>A	7.37:g.156469001G>A						RNF32_ENST00000317955.5_Intron|RNF32_ENST00000343665.4_Intron|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000432459.2_Intron|RNF32_ENST00000392743.2_Intron|RNF32_ENST00000405335.1_Intron	p.A289T			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1019	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	292					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.865G>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	2.600	-0.293256	0.05568	.	.	ENSG00000105982	ENST00000311822	T	0.22336	1.96	2.16	0.92	0.19397	.	.	.	.	.	T	0.11750	0.0286	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.06405	0.002	T	0.30592	-0.9973	8	0.30854	T	0.27	.	5.3078	0.15813	0.0:0.0:0.3103:0.6896	.	289	G5E940	.	T	289	ENSP00000308894:A289T	ENSP00000308894:A289T	A	+	1	0	RNF32	156161762	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.231000	0.09069	0.083000	0.17047	-0.578000	0.04140	GCA		0.398	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		11	5	0	0	0	1	0	11	5				
OR4N5	390437	broad.mit.edu	37	14	20612023	20612023	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20612023C>A	ENST00000333629.1	+	1	129	c.129C>A	c.(127-129)ttC>ttA	p.F43L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGAAATTTCCTCATCATTT	0.448																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(127-129)ttC>ttA		olfactory receptor, family 4, subfamily N, member 5							209.0	209.0	209.0					14																	20612023		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612023C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.129C>A	14.37:g.20612023C>A	ENSP00000332110:p.Phe43Leu						p.F43L	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	129	+	all_cancers(95;0.00108)		43					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.129C>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.680294	0.00751	.	.	ENSG00000184394	ENST00000333629	T	0.00424	7.45	3.99	-7.16	0.01516	GPCR, rhodopsin-like superfamily (1);	0.552403	0.15096	N	0.280802	T	0.00073	0.0002	N	0.00403	-1.54	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.32428	-0.9907	10	0.02654	T	1	.	5.8206	0.18526	0.2193:0.1911:0.0:0.5895	.	43	Q8IXE1	OR4N5_HUMAN	L	43	ENSP00000332110:F43L	ENSP00000332110:F43L	F	+	3	2	OR4N5	19681863	0.000000	0.05858	0.715000	0.30552	0.610000	0.37248	-5.533000	0.00115	-1.289000	0.02375	-1.124000	0.02001	TTC		0.448	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			16	211	1	0	6.94344e-10	1	8.49476e-10	16	211				
ABCC9	10060	broad.mit.edu	37	12	22001153	22001153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22001153C>A	ENST00000261201.4	-	23	2796	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E897*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Nonsense_Mutation_p.E933*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	933					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTTTTCCTCTCTAAAGTAGTT	0.418																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2797-2799)Gag>Tag		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						127.0	115.0	119.0					12																	22001153		2203	4300	6503	SO:0001587	stop_gained	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22001153C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2797G>T	12.37:g.22001153C>A	ENSP00000261201:p.Glu933*					ABCC9_ENST00000261201.4_Nonsense_Mutation_p.E933*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E897*	p.E933*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			23	2796	-			933					O60707	Nonsense_Mutation	SNP	ENST00000261201.4	37	c.2797G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	42	9.339216	0.99142	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.3712	19.5248	0.95199	0.0:1.0:0.0:0.0	.	.	.	.	X	933;560;933;897	.	ENSP00000261200:E933X	E	-	1	0	ABCC9	21892420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.426000	0.80270	2.679000	0.91253	0.650000	0.86243	GAG		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		25	28	1	0	2.79863e-10	1	3.44159e-10	25	28				
PKD1L1	168507	broad.mit.edu	37	7	47869717	47869717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47869717C>T	ENST00000289672.2	-	43	6529	c.6479G>A	c.(6478-6480)gGc>gAc	p.G2160D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2160					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGCTCCTGGCCAAACCTGCC	0.582																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(6478-6480)gGc>gAc		polycystic kidney disease 1 like 1							55.0	48.0	50.0					7																	47869717		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47869717C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6479G>A	7.37:g.47869717C>T	ENSP00000289672:p.Gly2160Asp						p.G2160D	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			43	6529	-			2160					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6479G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	0.494	-0.874017	0.02570	.	.	ENSG00000158683	ENST00000289672	T	0.27104	1.69	4.64	0.147	0.14838	.	1.475580	0.04799	N	0.433044	T	0.14657	0.0354	L	0.38175	1.15	0.09310	N	1	P	0.40731	0.728	B	0.31946	0.138	T	0.16571	-1.0398	10	0.15499	T	0.54	-0.0469	3.1262	0.06408	0.2372:0.3646:0.0:0.3982	.	2160	Q8TDX9	PK1L1_HUMAN	D	2160	ENSP00000289672:G2160D	ENSP00000289672:G2160D	G	-	2	0	PKD1L1	47836242	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.258000	0.08733	-0.176000	0.10707	0.563000	0.77884	GGC		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		12	27	0	0	0	1	0	12	27				
IQGAP3	128239	broad.mit.edu	37	1	156536333	156536333	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156536333A>G	ENST00000361170.2	-	3	141	c.131T>C	c.(130-132)aTg>aCg	p.M44T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	44	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGCCTCCATCCAGCTATG	0.547																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(130-132)aTg>aCg		IQ motif containing GTPase activating protein 3							56.0	37.0	44.0					1																	156536333		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156536333A>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.131T>C	1.37:g.156536333A>G	ENSP00000354451:p.Met44Thr						p.M44T	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			3	141	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		44			CH.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.131T>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044133	0.75732	.	.	ENSG00000183856	ENST00000361170	T	0.44482	0.92	5.42	5.42	0.78866	Calponin homology domain (5);	0.048450	0.85682	D	0.000000	T	0.63663	0.2530	M	0.88310	2.945	0.53688	D	0.999976	D	0.71674	0.998	D	0.91635	0.999	T	0.72704	-0.4213	10	0.87932	D	0	-28.0205	14.2956	0.66311	1.0:0.0:0.0:0.0	.	44	Q86VI3	IQGA3_HUMAN	T	44	ENSP00000354451:M44T	ENSP00000354451:M44T	M	-	2	0	IQGAP3	154802957	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.235000	0.95353	2.047000	0.60756	0.455000	0.32223	ATG		0.547	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		3	25	0	0	0	1	0	3	25				
ARHGEF25	115557	broad.mit.edu	37	12	58007289	58007289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58007289G>T	ENST00000286494.4	+	4	935	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.E198*|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	159						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAGGCTCTGGAAAGGAGTAT	0.498																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(475-477)Gaa>Taa		Rho guanine nucleotide exchange factor (GEF) 25							79.0	81.0	80.0					12																	58007289		2203	4300	6503	SO:0001587	stop_gained	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58007289G>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.475G>T	12.37:g.58007289G>T	ENSP00000286494:p.Glu159*					AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.E198*	p.E159*	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			4	935	+			159					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Nonsense_Mutation	SNP	ENST00000286494.4	37	c.475G>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	40	7.941251	0.98574	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	.	.	.	3.89	3.89	0.44902	.	0.000000	0.39146	N	0.001442	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	13.7616	0.62971	0.0:0.0:1.0:0.0	.	.	.	.	X	198;33;159	.	ENSP00000286494:E159X	E	+	1	0	ARHGEF25	56293556	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.516000	0.60496	1.909000	0.55274	0.455000	0.32223	GAA		0.498	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		5	83	1	0	1.024e-07	1	1.214e-07	5	83				
FAM129B	64855	broad.mit.edu	37	9	130269157	130269157	+	Silent	SNP	G	G	A	rs182361989		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130269157G>A	ENST00000373312.3	-	14	2421	c.2208C>T	c.(2206-2208)acC>acT	p.T736T	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Silent_p.T723T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	736					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CACTGTCCTCGGTGGTGGTGT	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15581	0.0		0.001	False		,,,				2504	0.0					ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(2206-2208)acC>acT		family with sequence similarity 129, member B		G	,	0,4406		0,0,2203	71.0	71.0	71.0		2169,2208	-8.4	0.8	9		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FAM129B	NM_001035534.1,NM_022833.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	723/734,736/747	130269157	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130269157G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.2208C>T	9.37:g.130269157G>A						FAM129B_ENST00000373314.3_Silent_p.T723T	p.T736T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2421	-			736					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.2208C>T	CCDS35145.1																																																																																				0.667	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		4	79	0	0	0	1	0	4	79				
ACAA2	10449	broad.mit.edu	37	18	47310300	47310300	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47310300G>A	ENST00000285093.10	-	10	1586	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	ACAA2_ENST00000587994.1_Splice_Site_p.R368C|ACAA2_ENST00000589432.1_Splice_Site_p.R316C	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	371					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						CCACCTCGACGCCTGAAAAAG	0.408																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.e10-1		acetyl-CoA acyltransferase 2							68.0	55.0	60.0					18																	47310300		2203	4300	6503	SO:0001630	splice_region_variant	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47310300G>A	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1110-1C>T	18.37:g.47310300G>A						ACAA2_ENST00000589432.1_Splice_Site_p.R316_splice|ACAA2_ENST00000587994.1_Splice_Site_p.R368_splice	p.R371_splice	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			10	1586	-			371					Q9BUT6	Splice_Site	SNP	ENST00000285093.10	37	c.1109_splice	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448431	0.63178	.	.	ENSG00000167315	ENST00000285093	D	0.93307	-3.2	5.88	5.88	0.94601	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.939;0.982	D	0.98813	1.0744	10	0.87932	D	0	-19.5067	20.2279	0.98344	0.0:0.0:1.0:0.0	.	371;371	B2RB23;P42765	.;THIM_HUMAN	C	371	ENSP00000285093:R371C	ENSP00000285093:R371C	R	-	1	0	ACAA2	45564298	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	6.978000	0.76147	2.778000	0.95560	0.655000	0.94253	CGT		0.408	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111	Missense_Mutation	9	18	0	0	0	1	0	9	18				
TRAK2	66008	broad.mit.edu	37	2	202257753	202257753	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202257753T>C	ENST00000332624.3	-	10	1420	c.992A>G	c.(991-993)gAc>gGc	p.D331G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	331	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATATTCCTGTCTTGTAACTC	0.398																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(991-993)gAc>gGc		trafficking protein, kinesin binding 2							100.0	103.0	102.0					2																	202257753		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202257753T>C	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.992A>G	2.37:g.202257753T>C	ENSP00000328875:p.Asp331Gly						p.D331G	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			10	1420	-			331	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.992A>G	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513980	0.85389	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.20881	2.04	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	L	0.54323	1.7	0.80722	D	1	P	0.50819	0.939	P	0.53809	0.735	T	0.07558	-1.0766	10	0.87932	D	0	.	13.3341	0.60507	0.0:0.0:0.0:1.0	.	331	O60296	TRAK2_HUMAN	G	331;237	ENSP00000328875:D331G	ENSP00000328875:D331G	D	-	2	0	TRAK2	201965998	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.934000	0.75880	2.127000	0.65507	0.533000	0.62120	GAC		0.398	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		4	52	0	0	0	1	0	4	52				
GTSF1	121355	broad.mit.edu	37	12	54858868	54858868	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54858868G>T	ENST00000552397.1	-	3	996	c.100C>A	c.(100-102)Ctt>Att	p.L34I	RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.L34I|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Intron			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	34						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				CACTTGATAAGATGATAAGGA	0.398																																						ENST00000552397.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(100-102)Ctt>Att		gametocyte specific factor 1							160.0	153.0	155.0					12																	54858868		2203	4300	6503	SO:0001583	missense	121355						metal ion binding	g.chr12:54858868G>T	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.100C>A	12.37:g.54858868G>T	ENSP00000446485:p.Leu34Ile					GTSF1_ENST00000552395.1_Intron|GTSF1_ENST00000305879.5_Missense_Mutation_p.L34I|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.L34I			Q8WW33	GTSF1_HUMAN			3	996	-		Myeloproliferative disorder(1001;0.00452)	34					B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	ENST00000552397.1	37	c.100C>A	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584721	0.65992	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.49720	0.77;0.77	6.02	6.02	0.97574	TRM13/UPF0224 family, U11-48K-like CHHC zinc finger domain (1);	0.182095	0.49916	D	0.000140	T	0.48077	0.1480	N	0.25094	0.71	0.41117	D	0.985784	D	0.64830	0.994	P	0.59487	0.858	T	0.36016	-0.9765	10	0.31617	T	0.26	-17.2094	11.3151	0.49388	0.0817:0.0:0.9183:0.0	.	34	Q8WW33	GTSF1_HUMAN	I	34	ENSP00000446485:L34I;ENSP00000304185:L34I	ENSP00000304185:L34I	L	-	1	0	GTSF1	53145135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.616000	0.36933	2.865000	0.98341	0.655000	0.94253	CTT		0.398	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594		63	87	1	0	1.59245e-42	1	2.14911e-42	63	87				
PBRM1	55193	broad.mit.edu	37	3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52637555G>A	ENST00000296302.7	-	17	2762	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R889*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.R921*(2)|p.R889*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2665-2667)Cga>Tga		polybromo 1							75.0	73.0	74.0					3																	52637555		2202	4300	6502	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637555G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2761C>T	3.37:g.52637555G>A	ENSP00000296302:p.Arg921*					PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*	p.R889*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2667	-			921					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.2665C>T		.	.	.	.	.	.	.	.	.	.	G	40	7.972597	0.98588	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.57	1.62	0.23740	.	0.056697	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6643	0.85248	0.0:0.0:0.3779:0.6221	.	.	.	.	X	889;921;921;921;921;921;936;936;921;880	.	ENSP00000296302:R921X	R	-	1	2	PBRM1	52612595	0.999000	0.42202	0.982000	0.44146	0.992000	0.81027	0.618000	0.24373	0.065000	0.16485	-0.158000	0.13435	CGA		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		15	20	0	0	0	1	0	15	20				
RERE	473	broad.mit.edu	37	1	8617539	8617539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617539C>T	ENST00000337907.3	-	6	1200	c.566G>A	c.(565-567)cGt>cAt	p.R189H	RERE_ENST00000400907.2_Missense_Mutation_p.R189H|RERE_ENST00000400908.2_Missense_Mutation_p.R189H	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	189	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGATTGACGGTAGTACCA	0.403																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(565-567)cGt>cAt		arginine-glutamic acid dipeptide (RE) repeats							135.0	114.0	122.0					1																	8617539		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8617539C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.566G>A	1.37:g.8617539C>T	ENSP00000338629:p.Arg189His					RERE_ENST00000400907.2_Missense_Mutation_p.R189H|RERE_ENST00000400908.2_Missense_Mutation_p.R189H	p.R189H	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	6	1200	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	189			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.566G>A	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.498792|5.498792	0.96355|0.96355	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.88431|.	-2.38;-2.38;-2.38|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.77398|0.77398	0.4124|0.4124	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.75323|0.75323	-0.3358|-0.3358	9|5	0.87932|.	D|.	0|.	-11.2829|-11.2829	19.1207|19.1207	0.93362|0.93362	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	189|.	Q9P2R6|.	RERE_HUMAN|.	H|I	189|39	ENSP00000338629:R189H;ENSP00000383699:R189H;ENSP00000383700:R189H|.	ENSP00000338629:R189H|.	R|V	-|-	2|1	0|0	RERE|RERE	8540126|8540126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	7.672000|7.672000	0.83956|0.83956	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.403	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			22	37	0	0	0	1	0	22	37				
UHRF1BP1L	23074	broad.mit.edu	37	12	100502171	100502171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100502171G>A	ENST00000279907.7	-	2	412	c.200C>T	c.(199-201)tCc>tTc	p.S67F	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S67F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	67										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CACCCTAATGGACGCTTTATT	0.353																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(199-201)tCc>tTc		UHRF1 binding protein 1-like							100.0	94.0	96.0					12																	100502171		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100502171G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.200C>T	12.37:g.100502171G>A	ENSP00000279907:p.Ser67Phe					UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S67F	p.S67F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			2	412	-			67					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.200C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650707	0.87958	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	D;D	0.83755	-1.76;-1.76	5.01	5.01	0.66863	.	0.141128	0.49305	D	0.000144	D	0.91425	0.7294	M	0.80982	2.52	0.80722	D	1	P;D	0.76494	0.899;0.999	P;D	0.73708	0.471;0.981	D	0.92686	0.6162	10	0.87932	D	0	-6.7373	18.3184	0.90229	0.0:0.0:1.0:0.0	.	67;67	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	F	67	ENSP00000279907:S67F;ENSP00000349285:S67F	ENSP00000279907:S67F	S	-	2	0	UHRF1BP1L	99026302	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.751000	0.98889	2.336000	0.79503	0.591000	0.81541	TCC		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		35	52	0	0	0	1	0	35	52				
ZNF777	27153	broad.mit.edu	37	7	149152973	149152973	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149152973A>G	ENST00000247930.4	-	2	464	c.141T>C	c.(139-141)tcT>tcC	p.S47S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAATGGTGGGAGACAAAGAAG	0.557																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(139-141)tcT>tcC		zinc finger protein 777							78.0	85.0	83.0					7																	149152973		1881	4109	5990	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152973A>G	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.141T>C	7.37:g.149152973A>G							p.S47S	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	464	-	Melanoma(164;0.165)		47					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.141T>C	CCDS43675.1																																																																																				0.557	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		6	113	0	0	0	1	0	6	113				
SLC6A14	11254	broad.mit.edu	37	X	115569065	115569065	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115569065C>T	ENST00000371900.4	+	2	244	c.156C>T	c.(154-156)taC>taT	p.Y52Y		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	52					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGATTGGATACGCAGTGGGAT	0.453																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(154-156)taC>taT		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						118.0	112.0	114.0					X																	115569065		2203	4300	6503	SO:0001819	synonymous_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115569065C>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.156C>T	X.37:g.115569065C>T							p.Y52Y	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			2	244	+			52					Q5H942	Silent	SNP	ENST00000371900.4	37	c.156C>T	CCDS14570.1																																																																																				0.453	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			51	71	0	0	0	1	0	51	71				
USH2A	7399	broad.mit.edu	37	1	215844346	215844346	+	Missense_Mutation	SNP	C	C	T	rs372966682		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215844346C>T	ENST00000307340.3	-	64	14487	c.14101G>A	c.(14101-14103)Gaa>Aaa	p.E4701K	USH2A_ENST00000366943.2_Missense_Mutation_p.E4701K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4701	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E4701K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCAATAGTTCGGAATCTATA	0.363										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.E4701K(1)	breast(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14101-14103)Gaa>Aaa		Usher syndrome 2A (autosomal recessive, mild)		C	LYS/GLU	0,4406		0,0,2203	148.0	149.0	149.0		14101	3.2	0.0	1		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4701/5203	215844346	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844346C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14101G>A	1.37:g.215844346C>T	ENSP00000305941:p.Glu4701Lys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.E4701K	p.E4701K			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14487	-			4701			Fibronectin type-III 32.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14101G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598448	0.28445	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56611	0.45;0.45	5.21	3.18	0.36537	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.165671	0.28042	N	0.016836	T	0.29028	0.0721	L	0.31294	0.92	0.09310	N	1	B	0.25169	0.119	B	0.15484	0.013	T	0.06607	-1.0817	10	0.11794	T	0.64	.	1.8734	0.03213	0.1718:0.3385:0.3349:0.1548	.	4701	O75445	USH2A_HUMAN	K	4701	ENSP00000305941:E4701K;ENSP00000355910:E4701K	ENSP00000305941:E4701K	E	-	1	0	USH2A	213910969	0.000000	0.05858	0.041000	0.18516	0.434000	0.31775	0.153000	0.16323	1.298000	0.44778	0.650000	0.86243	GAA		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		56	114	0	0	0	1	0	56	114				
AHNAK	79026	broad.mit.edu	37	11	62289689	62289689	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289689T>C	ENST00000378024.4	-	5	12474	c.12200A>G	c.(12199-12201)aAa>aGa	p.K4067R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATGCTGAATTTGGGCATTTT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12199-12201)aAa>aGa		AHNAK nucleoprotein							177.0	188.0	184.0					11																	62289689		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289689T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12200A>G	11.37:g.62289689T>C	ENSP00000367263:p.Lys4067Arg					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4067R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12474	-		Melanoma(852;0.155)	4067					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12200A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	13.12	2.141838	0.37825	.	.	ENSG00000124942	ENST00000378024	T	0.11385	2.78	3.89	3.89	0.44902	.	0.206647	0.29838	N	0.011062	T	0.35799	0.0944	M	0.89601	3.045	0.35161	D	0.770669	D	0.71674	0.998	D	0.66979	0.948	T	0.56195	-0.8019	10	0.36615	T	0.2	.	12.3896	0.55350	0.0:0.0:0.0:1.0	.	4067	Q09666	AHNK_HUMAN	R	4067	ENSP00000367263:K4067R	ENSP00000367263:K4067R	K	-	2	0	AHNAK	62046265	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	5.820000	0.69250	1.409000	0.46915	0.318000	0.21364	AAA		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		13	250	0	0	0	1	0	13	250				
FLNB	2317	broad.mit.edu	37	3	58135653	58135653	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58135653C>A	ENST00000295956.4	+	37	6333	c.6168C>A	c.(6166-6168)acC>acA	p.T2056T	FLNB_ENST00000490882.1_Silent_p.T2087T|FLNB_ENST00000348383.5_Silent_p.T2056T|FLNB_ENST00000358537.3_Silent_p.T2032T|FLNB_ENST00000357272.4_Silent_p.T2056T|FLNB_ENST00000429972.2_Silent_p.T2045T|FLNB_ENST00000493452.1_Silent_p.T1863T|FLNB_ENST00000419752.2_Silent_p.T1876T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2056	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAGATGGCACCTGCAAAGTCT	0.567																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(6166-6168)acC>acA		filamin B, beta							208.0	180.0	190.0					3																	58135653		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58135653C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6168C>A	3.37:g.58135653C>A						FLNB_ENST00000429972.2_Silent_p.T2045T|FLNB_ENST00000358537.3_Silent_p.T2032T|FLNB_ENST00000490882.1_Silent_p.T2087T|FLNB_ENST00000419752.2_Silent_p.T1876T|FLNB_ENST00000348383.5_Silent_p.T2056T|FLNB_ENST00000295956.4_Silent_p.T2056T|FLNB_ENST00000493452.1_Silent_p.T1863T	p.T2056T			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	37	6333	+			2056			Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.6168C>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252346	0.22880	.	.	ENSG00000136068	ENST00000466455	.	.	.	6.08	2.25	0.28309	.	.	.	.	.	T	0.43322	0.1242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23048	-1.0199	4	.	.	.	.	1.823	0.03115	0.1373:0.4605:0.1344:0.2677	.	.	.	.	M	21	.	.	L	+	1	2	FLNB	58110693	0.995000	0.38212	0.999000	0.59377	0.992000	0.81027	0.452000	0.21795	0.138000	0.18790	0.655000	0.94253	CTG		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		7	154	1	0	0.000157383	1	0.00017284	7	154				
SMARCA2	6595	broad.mit.edu	37	9	2054698	2054698	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2054698T>G	ENST00000382203.1	+	6	1357	c.1148T>G	c.(1147-1149)cTt>cGt	p.L383R	SMARCA2_ENST00000357248.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L383R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	383					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTAAAAGCACTTCGGTTACTC	0.423																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1147-1149)cTt>cGt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							99.0	102.0	101.0					9																	2054698		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2054698T>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1148T>G	9.37:g.2054698T>G	ENSP00000371638:p.Leu383Arg					SMARCA2_ENST00000349721.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L383R	p.L383R			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1357	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	383					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1148T>G	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949052	0.92660	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.67711	0.2922	M	0.81802	2.56	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	T	0.72253	-0.4347	10	0.87932	D	0	-16.0211	16.3736	0.83374	0.0:0.0:0.0:1.0	.	383;383	P51531-2;P51531	.;SMCA2_HUMAN	R	383	ENSP00000265773:L383R;ENSP00000349788:L383R;ENSP00000392081:L383R;ENSP00000371638:L383R;ENSP00000371629:L383R	ENSP00000265773:L383R	L	+	2	0	SMARCA2	2044698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.273000	0.75805	0.482000	0.46254	CTT		0.423	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		5	93	0	0	0	1	0	5	93				
CPB2	1361	broad.mit.edu	37	13	46638873	46638873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46638873G>A	ENST00000181383.4	-	8	722	c.706C>T	c.(706-708)Cga>Tga	p.R236*	CPB2_ENST00000439329.3_Nonsense_Mutation_p.R199*|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	236					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTCCACATTCGATTCTACATA	0.423																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(706-708)Cga>Tga		carboxypeptidase B2 (plasma)							121.0	105.0	110.0					13																	46638873		2203	4300	6503	SO:0001587	stop_gained	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46638873G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.706C>T	13.37:g.46638873G>A	ENSP00000181383:p.Arg236*					CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.R199*	p.R236*	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	8	722	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	236					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Nonsense_Mutation	SNP	ENST00000181383.4	37	c.706C>T	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029845	0.93575	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	.	.	.	5.66	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6796	0.62476	0.0739:0.0:0.9261:0.0	.	.	.	.	X	236;199	.	ENSP00000181383:R236X	R	-	1	2	CPB2	45536874	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	5.392000	0.66272	1.393000	0.46605	0.650000	0.86243	CGA		0.423	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		15	21	0	0	0	1	0	15	21				
PCNXL4	64430	broad.mit.edu	37	14	60574554	60574554	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60574554C>T	ENST00000406854.1	+	2	752	c.198C>T	c.(196-198)atC>atT	p.I66I	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000391611.2_Silent_p.I66I|PCNXL4_ENST00000404681.2_Silent_p.I66I			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	66						integral component of membrane (GO:0016021)											AGTTAGGCATCCTGAAAGACT	0.373																																						ENST00000406854.1																			0											c.(196-198)atC>atT		pecanex-like 4 (Drosophila)							70.0	66.0	67.0					14																	60574554		876	1991	2867	SO:0001819	synonymous_variant	64430							g.chr14:60574554C>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.198C>T	14.37:g.60574554C>T						PCNXL4_ENST00000391611.2_Silent_p.I66I|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000404681.2_Silent_p.I66I|PCNXL4_ENST00000406949.1_Intron	p.I66I							2	752	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.198C>T																																																																																					0.373	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		12	22	0	0	0	1	0	12	22				
DLG5	9231	broad.mit.edu	37	10	79603266	79603266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79603266G>A	ENST00000372391.2	-	6	1068	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	DLG5_ENST00000372388.2_Silent_p.L355L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	355					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCTGGGTCAGCATCTCTGTC	0.637																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1063-1065)Ctg>Ttg		discs, large homolog 5 (Drosophila)							116.0	112.0	114.0					10																	79603266		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79603266G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1063C>T	10.37:g.79603266G>A						DLG5_ENST00000372388.2_Silent_p.L355L	p.L355L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		6	1068	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		355					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.1063C>T	CCDS7353.2																																																																																				0.637	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	119	0	0	0	1	0	10	119				
MUC6	4588	broad.mit.edu	37	11	1017265	1017265	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1017265A>G	ENST00000421673.2	-	31	5586	c.5536T>C	c.(5536-5538)Tcc>Ccc	p.S1846P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1846	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCACCAAGGAGGTGGAGAAA	0.542																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5536-5538)Tcc>Ccc		mucin 6, oligomeric mucus/gel-forming							545.0	520.0	528.0					11																	1017265		2194	4281	6475	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017265A>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5536T>C	11.37:g.1017265A>G	ENSP00000406861:p.Ser1846Pro						p.S1846P	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5586	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1846			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5536T>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.194546	0.38806	.	.	ENSG00000184956	ENST00000421673	T	0.31769	1.48	3.02	0.0492	0.14288	.	.	.	.	.	T	0.46756	0.1409	M	0.68317	2.08	0.21325	N	0.999727	D	0.76494	0.999	D	0.79784	0.993	T	0.23013	-1.0200	9	0.56958	D	0.05	.	6.067	0.19868	0.595:0.0:0.0:0.405	.	1846	Q6W4X9	MUC6_HUMAN	P	1846	ENSP00000406861:S1846P	ENSP00000406861:S1846P	S	-	1	0	MUC6	1007265	0.000000	0.05858	0.152000	0.22495	0.065000	0.16274	-0.369000	0.07533	0.302000	0.22762	0.260000	0.18958	TCC		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		13	564	0	0	0	1	0	13	564				
TNFRSF11B	4982	broad.mit.edu	37	8	119941092	119941092	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119941092G>T	ENST00000297350.4	-	3	855	c.477C>A	c.(475-477)ccC>ccA	p.P159P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	159					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTTTTCTACAGGGTGCTTTAG	0.413																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(475-477)ccC>ccA		tumor necrosis factor receptor superfamily, member 11b							212.0	192.0	198.0					8																	119941092		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119941092G>T	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.477C>A	8.37:g.119941092G>T							p.P159P	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		3	855	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		159					B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.477C>A	CCDS6326.1																																																																																				0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			47	75	1	0	6.61955e-31	1	8.87288e-31	47	75				
MUC16	94025	broad.mit.edu	37	19	9045923	9045923	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045923G>T	ENST00000397910.4	-	5	35911	c.35708C>A	c.(35707-35709)tCc>tAc	p.S11903Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11905	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGCACTGGAAAGCCCAGA	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35707-35709)tCc>tAc		mucin 16, cell surface associated							97.0	92.0	94.0					19																	9045923		1910	4134	6044	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045923G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35708C>A	19.37:g.9045923G>T	ENSP00000381008:p.Ser11903Tyr						p.S11903Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35911	-			11905			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35708C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	5.878	0.346107	0.11126	.	.	ENSG00000181143	ENST00000397910	T	0.02395	4.31	3.48	1.28	0.21552	.	.	.	.	.	T	0.01905	0.0060	N	0.14661	0.345	.	.	.	P	0.42620	0.785	B	0.38616	0.277	T	0.43426	-0.9392	8	0.87932	D	0	.	5.0763	0.14632	0.2912:0.0:0.7088:0.0	.	11903	B5ME49	.	Y	11903	ENSP00000381008:S11903Y	ENSP00000381008:S11903Y	S	-	2	0	MUC16	8906923	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.549000	0.23329	0.424000	0.26061	0.555000	0.69702	TCC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	83	1	0	3.99451e-17	1	5.17392e-17	30	83				
ZNF667	63934	broad.mit.edu	37	19	56953758	56953758	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56953758G>A	ENST00000504904.3	-	7	1325	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ZNF667_ENST00000342634.3_Silent_p.C330C|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.C202C			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACATTTATTGCATTCATGGC	0.383																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(604-606)tgC>tgT		zinc finger protein 667							173.0	179.0	177.0					19																	56953758		2202	4300	6502	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953758G>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.606C>T	19.37:g.56953758G>A						ZNF667_ENST00000292069.6_Silent_p.C202C|ZNF667_ENST00000342634.3_Silent_p.C330C|ZNF667_ENST00000591790.1_3'UTR	p.C202C			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1325	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	202					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.606C>T	CCDS12944.1																																																																																				0.383	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		7	142	0	0	0	1	0	7	142				
BSN	8927	broad.mit.edu	37	3	49694787	49694787	+	Missense_Mutation	SNP	C	C	T	rs528765192	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694787C>T	ENST00000296452.4	+	5	7912	c.7798C>T	c.(7798-7800)Cgg>Tgg	p.R2600W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2600	Poly-Arg.				synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCTTGAGTCGGCGACGCCG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		20700	0.001		0.001	False		,,,				2504	0.0					ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(7798-7800)Cgg>Tgg		bassoon presynaptic cytomatrix protein							40.0	47.0	44.0					3																	49694787		2203	4299	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694787C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7798C>T	3.37:g.49694787C>T	ENSP00000296452:p.Arg2600Trp						p.R2600W	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7912	+			2600			Poly-Arg.		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7798C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256388	0.22965	.	.	ENSG00000164061	ENST00000296452	T	0.30182	1.54	5.82	4.94	0.65067	.	0.061993	0.64402	D	0.000015	T	0.53449	0.1797	M	0.69358	2.11	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.57562	-0.7790	10	0.87932	D	0	-21.688	13.7154	0.62693	0.2803:0.7197:0.0:0.0	.	2600	Q9UPA5	BSN_HUMAN	W	2600	ENSP00000296452:R2600W	ENSP00000296452:R2600W	R	+	1	2	BSN	49669791	1.000000	0.71417	0.847000	0.33407	0.901000	0.52897	1.992000	0.40737	1.450000	0.47717	0.561000	0.74099	CGG		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		19	14	0	0	0	1	0	19	14				
MARS	4141	broad.mit.edu	37	12	57894244	57894244	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57894244A>T	ENST00000262027.5	+	10	1366	c.1232A>T	c.(1231-1233)gAg>gTg	p.E411V	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.E177V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	411					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTGGCTATGAGGAGGCTCGG	0.572																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1231-1233)gAg>gTg		methionyl-tRNA synthetase	L-Methionine(DB00134)						151.0	118.0	129.0					12																	57894244		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57894244A>T	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1232A>T	12.37:g.57894244A>T	ENSP00000262027:p.Glu411Val					MARS_ENST00000315473.5_Missense_Mutation_p.E177V|MARS_ENST00000447721.2_3'UTR	p.E411V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		10	1366	+			411					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1232A>T	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466894	0.84425	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000548944	T;T	0.51325	1.26;0.71	5.35	5.35	0.76521	Aminoacyl-tRNA synthetase, class I (M) (1);	0.112559	0.64402	D	0.000015	T	0.66829	0.2829	M	0.78344	2.41	0.54753	D	0.999981	P;D;D	0.54964	0.76;0.969;0.969	B;P;P	0.61477	0.378;0.889;0.855	T	0.71603	-0.4543	10	0.72032	D	0.01	-20.6153	14.6279	0.68635	1.0:0.0:0.0:0.0	.	177;284;411	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	V	411;177;35	ENSP00000262027:E411V;ENSP00000314653:E177V	ENSP00000262027:E411V	E	+	2	0	MARS	56180511	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.102000	0.64572	2.155000	0.67459	0.460000	0.39030	GAG		0.572	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		4	52	0	0	0	1	0	4	52				
PCDH8	5100	broad.mit.edu	37	13	53422376	53422376	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53422376T>G	ENST00000377942.3	-	1	399	c.196A>C	c.(196-198)Atg>Ctg	p.M66L	PCDH8_ENST00000338862.4_Missense_Mutation_p.M66L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AATTGCTTCATCAGGCGGAAG	0.657																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(196-198)Atg>Ctg		protocadherin 8							89.0	88.0	88.0					13																	53422376		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422376T>G	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.196A>C	13.37:g.53422376T>G	ENSP00000367177:p.Met66Leu					PCDH8_ENST00000338862.4_Missense_Mutation_p.M66L	p.M66L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	399	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	66			Cadherin 1.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.196A>C	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807424	0.50421	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.25579	1.79;1.79	5.23	4.07	0.47477	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.53938	D	0.000054	T	0.26882	0.0658	L	0.35249	1.045	0.45464	D	0.998437	P;P	0.42908	0.754;0.793	P;P	0.51866	0.554;0.682	T	0.01844	-1.1262	10	0.36615	T	0.2	.	7.1776	0.25753	0.0:0.0765:0.148:0.7755	.	66;66	O95206-2;O95206	.;PCDH8_HUMAN	L	66	ENSP00000367177:M66L;ENSP00000341350:M66L	ENSP00000341350:M66L	M	-	1	0	PCDH8	52320377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.803000	0.47924	1.987000	0.57996	0.459000	0.35465	ATG		0.657	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		5	93	0	0	0	1	0	5	93				
ATP11A	23250	broad.mit.edu	37	13	113465017	113465017	+	Missense_Mutation	SNP	C	C	T	rs372464773		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113465017C>T	ENST00000487903.1	+	5	506	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ATP11A_ENST00000283558.8_Missense_Mutation_p.R140W|ATP11A_ENST00000375645.3_Missense_Mutation_p.R140W|ATP11A_ENST00000375630.2_Missense_Mutation_p.R140W			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	140					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAAGCTCGTTCGGAAACAAAG	0.443																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(418-420)Cgg>Tgg		ATPase, class VI, type 11A		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	121.0	101.0	108.0		418,418	4.8	0.9	13		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP11A	NM_032189.3,NM_015205.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	140/1192,140/1135	113465017	1,13005	2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113465017C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.418C>T	13.37:g.113465017C>T	ENSP00000420387:p.Arg140Trp					ATP11A_ENST00000375630.2_Missense_Mutation_p.R140W|ATP11A_ENST00000283558.8_Missense_Mutation_p.R140W|ATP11A_ENST00000375645.3_Missense_Mutation_p.R140W	p.R140W			P98196	AT11A_HUMAN			5	506	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	140					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.418C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136741	0.37728	0.0	1.16E-4	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	4.83	4.83	0.62350	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060085	0.64402	D	0.000007	D	0.87245	0.6129	L	0.55834	1.745	0.58432	D	0.999995	P;B;B	0.37083	0.581;0.438;0.295	B;B;B	0.35727	0.192;0.209;0.152	D	0.87551	0.2465	10	0.59425	D	0.04	.	10.9738	0.47454	0.3001:0.6999:0.0:0.0	.	140;140;140	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	W	140	ENSP00000420387:R140W;ENSP00000364781:R140W;ENSP00000364796:R140W;ENSP00000283558:R140W	ENSP00000283558:R140W	R	+	1	2	ATP11A	112513018	0.937000	0.31787	0.912000	0.35992	0.098000	0.18820	1.959000	0.40412	2.385000	0.81259	0.563000	0.77884	CGG		0.443	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		18	40	0	0	0	1	0	18	40				
ZNF45	7596	broad.mit.edu	37	19	44419006	44419006	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44419006A>G	ENST00000269973.5	-	10	1672	c.582T>C	c.(580-582)tgT>tgC	p.C194C	ZNF45_ENST00000589703.1_Silent_p.C194C|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	194					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CACATTTTTCACATTTGTAGG	0.413																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(580-582)tgT>tgC		zinc finger protein 45							158.0	164.0	162.0					19																	44419006		2203	4300	6503	SO:0001819	synonymous_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44419006A>G	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.582T>C	19.37:g.44419006A>G						RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.C194C	p.C194C	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	1672	-			194					P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	c.582T>C	CCDS12632.1																																																																																				0.413	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		69	113	0	0	0	1	0	69	113				
SMYD5	10322	broad.mit.edu	37	2	73446052	73446052	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73446052C>T	ENST00000389501.4	+	2	205	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	54	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGAACGGCCCCTGGTGGCTGC	0.542																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(160-162)Ctg>Ttg		SMYD family member 5							109.0	110.0	109.0					2																	73446052		2002	4162	6164	SO:0001819	synonymous_variant	10322						metal ion binding	g.chr2:73446052C>T	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.160C>T	2.37:g.73446052C>T						SMYD5_ENST00000474652.1_3'UTR	p.L54L	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			2	205	+			54					D6W5H3|Q13558	Silent	SNP	ENST00000389501.4	37	c.160C>T	CCDS33221.2																																																																																				0.542	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		9	18	0	0	0	1	0	9	18				
CELSR2	1952	broad.mit.edu	37	1	109794054	109794054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794054C>T	ENST00000271332.3	+	1	1414	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	451	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCTGGATGCCCAGACTGGAG	0.572																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1351-1353)gcC>gcT		cadherin, EGF LAG seven-pass G-type receptor 2							141.0	140.0	140.0					1																	109794054		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794054C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1353C>T	1.37:g.109794054C>T							p.A451A	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1414	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	451			Cadherin 3.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1353C>T	CCDS796.1																																																																																				0.572	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		91	169	0	0	0	1	0	91	169				
NOTCH2	4853	broad.mit.edu	37	1	120491630	120491630	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120491630C>A	ENST00000256646.2	-	16	2818	c.2599G>T	c.(2599-2601)Ggt>Tgt	p.G867C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	867	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTCTTACCTTGCCAGCCA	0.458			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.e16+1		notch 2							188.0	179.0	182.0					1																	120491630		2203	4300	6503	SO:0001630	splice_region_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120491630C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2599+1G>T	1.37:g.120491630C>A			OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504		p.G867_splice	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2818	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	867			EGF-like 22.		Q5T3X7|Q99734|Q9H240	Splice_Site	SNP	ENST00000256646.2	37	c.2599_splice	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054139	0.93793	.	.	ENSG00000134250	ENST00000256646	D	0.98249	-4.82	6.01	6.01	0.97437	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38548	U	0.001649	D	0.99489	0.9818	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98389	1.0562	9	.	.	.	.	19.0992	0.93266	0.0:1.0:0.0:0.0	.	867;867	Q6IQ50;Q04721	.;NOTC2_HUMAN	C	867	ENSP00000256646:G867C	.	G	-	1	0	NOTCH2	120293153	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.251000	0.78297	2.861000	0.98227	0.650000	0.86243	GGT		0.458	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	Missense_Mutation	19	172	1	0	1.87028e-06	1	2.164e-06	19	172				
PIGQ	9091	broad.mit.edu	37	16	624613	624613	+	Missense_Mutation	SNP	G	G	A	rs376046019		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:624613G>A	ENST00000026218.5	+	2	627	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PIGQ_ENST00000470411.2_Missense_Mutation_p.R180H|PIGQ_ENST00000409527.2_Missense_Mutation_p.R180H|PIGQ_ENST00000321878.5_Missense_Mutation_p.R180H	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	180					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CGCAGTGACCGCTTTGATGAG	0.701																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(538-540)cGc>cAc		phosphatidylinositol glycan anchor biosynthesis, class Q		G	HIS/ARG,HIS/ARG	1,4377		0,1,2188	12.0	12.0	12.0		539,539	2.0	0.1	16		12	0,8558		0,0,4279	no	missense,missense	PIGQ	NM_004204.3,NM_148920.1	29,29	0,1,6467	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	180/582,180/761	624613	1,12935	2189	4279	6468	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624613G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.539G>A	16.37:g.624613G>A	ENSP00000026218:p.Arg180His					PIGQ_ENST00000470411.2_Missense_Mutation_p.R180H|PIGQ_ENST00000409527.2_Missense_Mutation_p.R180H|PIGQ_ENST00000026218.5_Missense_Mutation_p.R180H	p.R180H	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	698	+		Hepatocellular(780;0.00335)	180					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.539G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487347	0.44249	2.28E-4	0.0	ENSG00000007541	ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000026218;ENST00000470411	T;T;T;T;T;T	0.52983	0.65;0.66;0.66;0.65;1.88;0.64	5.45	1.95	0.26073	.	0.230162	0.39407	N	0.001369	T	0.49047	0.1534	L	0.50333	1.59	0.24933	N	0.991904	D;D;P;D	0.67145	0.99;0.996;0.906;0.996	P;P;P;P	0.54100	0.65;0.687;0.637;0.742	T	0.39333	-0.9619	9	.	.	.	-30.2841	8.4559	0.32899	0.3222:0.0:0.6778:0.0	.	194;180;180;180	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	H	180	ENSP00000386760:R180H;ENSP00000386554:R180H;ENSP00000413753:R180H;ENSP00000326674:R180H;ENSP00000026218:R180H;ENSP00000439650:R180H	.	R	+	2	0	PIGQ	564614	0.939000	0.31865	0.110000	0.21437	0.011000	0.07611	1.705000	0.37867	0.117000	0.18138	0.561000	0.74099	CGC		0.701	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		3	11	0	0	0	1	0	3	11				
ATG2A	23130	broad.mit.edu	37	11	64662655	64662655	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64662655G>T	ENST00000377264.3	-	41	5719	c.5607C>A	c.(5605-5607)atC>atA	p.I1869I	ATG2A_ENST00000421419.2_Silent_p.I1871I	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1869					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACGTCACAGATGGTCTGAG	0.682																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(5611-5613)atC>atA		autophagy related 2A							31.0	34.0	33.0					11																	64662655		2198	4294	6492	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64662655G>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5607C>A	11.37:g.64662655G>T						ATG2A_ENST00000377264.3_Silent_p.I1869I	p.I1871I			Q2TAZ0	ATG2A_HUMAN			41	5727	-			1869					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.5613C>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	6.051	0.377696	0.11466	.	.	ENSG00000110046	ENST00000418259	.	.	.	3.99	3.07	0.35406	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54708	-0.8253	4	.	.	.	.	9.233	0.37448	0.0:0.0:0.6072:0.3927	.	.	.	.	M	1673	.	.	L	-	1	2	ATG2A	64419231	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	1.979000	0.40608	1.022000	0.39626	-0.268000	0.10319	CTG		0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	54	1	0	2.0095e-06	1	2.31757e-06	7	54				
REXO1	57455	broad.mit.edu	37	19	1821569	1821569	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1821569C>T	ENST00000170168.4	-	5	2437	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	781						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGTAGTCTTGGACGCCA	0.632																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2341-2343)aaG>aaA		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							193.0	139.0	157.0					19																	1821569		2203	4300	6503	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1821569C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2343G>A	19.37:g.1821569C>T							p.K781K	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2437	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	781					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2343G>A	CCDS32866.1																																																																																				0.632	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		39	66	0	0	0	1	0	39	66				
GJA1	2697	broad.mit.edu	37	6	121768987	121768987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768987G>A	ENST00000282561.3	+	2	1151	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	332					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TAACTCCCATGCACAGCCTTT	0.468																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(994-996)Gca>Aca		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						76.0	78.0	78.0					6																	121768987		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768987G>A	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.994G>A	6.37:g.121768987G>A	ENSP00000282561:p.Ala332Thr						p.A332T	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1151	+			332					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.994G>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903526	0.52333	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	T	0.80480	-1.38	4.88	4.88	0.63580	.	0.596241	0.16011	N	0.233835	T	0.63236	0.2494	L	0.27053	0.805	0.80722	D	1	P	0.36483	0.555	B	0.35073	0.195	T	0.65500	-0.6153	10	0.35671	T	0.21	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	332	P17302	CXA1_HUMAN	T	316;332	ENSP00000282561:A332T	ENSP00000282561:A332T	A	+	1	0	GJA1	121810686	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.066000	0.93949	2.694000	0.91930	0.585000	0.79938	GCA		0.468	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		36	46	0	0	0	1	0	36	46				
RBM38	55544	broad.mit.edu	37	20	55982762	55982762	+	Missense_Mutation	SNP	G	G	A	rs574040093		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:55982762G>A	ENST00000356208.5	+	4	755	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.A113T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	194					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CCCATACGCCGCCTCGCCTGC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		14498	0.001		0.0	False		,,,				2504	0.0					ENST00000356208.5																			0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(580-582)Gcc>Acc		RNA binding motif protein 38							17.0	22.0	20.0					20																	55982762		2063	4179	6242	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55982762G>A	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.580G>A	20.37:g.55982762G>A	ENSP00000348538:p.Ala194Thr					RBM38_ENST00000371219.2_Missense_Mutation_p.A113T|RBM38_ENST00000440234.2_3'UTR	p.A194T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		4	755	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		194					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.580G>A	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	G	9.676	1.148143	0.21288	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.32988	1.43;1.43	4.29	2.11	0.27256	.	0.057766	0.64402	D	0.000002	T	0.26340	0.0643	M	0.64997	1.995	0.80722	D	1	P	0.46912	0.886	B	0.38194	0.267	T	0.09684	-1.0663	10	0.25751	T	0.34	-2.4376	11.1671	0.48550	0.0:0.1367:0.722:0.1413	.	194	Q9H0Z9	RBM38_HUMAN	T	194;113	ENSP00000348538:A194T;ENSP00000360263:A113T	ENSP00000348538:A194T	A	+	1	0	RBM38	55416168	1.000000	0.71417	0.797000	0.32132	0.045000	0.14185	3.596000	0.54024	0.900000	0.36469	0.462000	0.41574	GCC		0.697	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		9	7	0	0	0	1	0	9	7				
TECTA	7007	broad.mit.edu	37	11	121058547	121058547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121058547G>T	ENST00000392793.1	+	21	6277	c.6006G>T	c.(6004-6006)caG>caT	p.Q2002H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q2002H			O75443	TECTA_HUMAN	tectorin alpha	2002	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATAGGTGTCAGAACCTCAAAG	0.398																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(6004-6006)caG>caT		tectorin alpha							155.0	142.0	146.0					11																	121058547		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121058547G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6006G>T	11.37:g.121058547G>T	ENSP00000376543:p.Gln2002His					TECTA_ENST00000264037.2_Missense_Mutation_p.Q2002H	p.Q2002H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	21	6277	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	2002			ZP.			Missense_Mutation	SNP	ENST00000392793.1	37	c.6006G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298652	0.60195	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.82167	-1.58;-1.58	5.44	5.44	0.79542	Zona pellucida sperm-binding protein (3);	0.065823	0.64402	D	0.000006	T	0.79981	0.4540	L	0.40543	1.245	0.36802	D	0.885412	P	0.50710	0.938	P	0.49140	0.601	T	0.81735	-0.0797	10	0.38643	T	0.18	.	9.913	0.41417	0.1536:0.0:0.8464:0.0	.	2002	O75443	TECTA_HUMAN	H	2002	ENSP00000376543:Q2002H;ENSP00000264037:Q2002H	ENSP00000264037:Q2002H	Q	+	3	2	TECTA	120563757	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.459000	0.35234	2.532000	0.85374	0.555000	0.69702	CAG		0.398	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		13	116	1	0	7.03913e-09	1	8.47891e-09	13	116				
BUB1B	701	broad.mit.edu	37	15	40457360	40457360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40457360G>A	ENST00000287598.6	+	2	337	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	BUB1B_ENST00000412359.3_Missense_Mutation_p.E48K|BUB1B_ENST00000560120.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACTGGCACAAGAATCTGCCTG	0.473			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(142-144)Gaa>Aaa		BUB1 mitotic checkpoint serine/threonine kinase B							161.0	159.0	160.0					15																	40457360		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40457360G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.142G>A	15.37:g.40457360G>A	ENSP00000287598:p.Glu48Lys					BUB1B_ENST00000560120.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E48K	p.E48K	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	2	337	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	48					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.142G>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106737	0.77096	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14893	2.47;2.48	5.77	5.77	0.91146	.	0.235047	0.42964	D	0.000636	T	0.18676	0.0448	L	0.59436	1.845	0.42499	D	0.992926	P	0.42078	0.77	B	0.32465	0.146	T	0.02705	-1.1121	10	0.34782	T	0.22	-6.2465	18.751	0.91814	0.0:0.0:1.0:0.0	.	48	O60566	BUB1B_HUMAN	K	48	ENSP00000287598:E48K;ENSP00000398470:E48K	ENSP00000287598:E48K	E	+	1	0	BUB1B	38244652	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.905000	0.69893	2.720000	0.93068	0.650000	0.86243	GAA		0.473	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			26	61	0	0	0	1	0	26	61				
ZNF266	10781	broad.mit.edu	37	19	9525366	9525366	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525366C>A	ENST00000592904.1	-	5	2311	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	ZNF266_ENST00000590306.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.D79Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.D79Y			Q14584	ZN266_HUMAN	zinc finger protein 266	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGCTTAACATCACTGACCTCC	0.408																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(235-237)Gat>Tat		zinc finger protein 266							120.0	94.0	103.0					19																	9525366		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9525366C>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.235G>T	19.37:g.9525366C>A	ENSP00000466714:p.Asp79Tyr					ZNF266_ENST00000588933.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.D79Y|ZNF266_ENST00000590306.1_Missense_Mutation_p.D79Y	p.D79Y			Q14584	ZN266_HUMAN			5	2311	-			79					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.235G>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944039	0.34283	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.56444	0.46;0.46	2.64	-4.14	0.03892	.	.	.	.	.	T	0.44808	0.1311	M	0.71036	2.16	0.09310	N	1	P	0.50943	0.94	B	0.41571	0.36	T	0.43861	-0.9365	9	0.87932	D	0	.	4.619	0.12440	0.0:0.2504:0.3113:0.4383	.	79	Q14584	ZN266_HUMAN	Y	79	ENSP00000354680:D79Y;ENSP00000355047:D79Y	ENSP00000355047:D79Y	D	-	1	0	ZNF266	9386366	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.043000	0.13971	-0.788000	0.04504	-0.274000	0.10170	GAT		0.408	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			34	53	1	0	8.53417e-09	1	1.02731e-08	34	53				
NLGN2	57555	broad.mit.edu	37	17	7319304	7319304	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319304G>A	ENST00000302926.2	+	6	1585	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	NLGN2_ENST00000575301.1_Silent_p.L504L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	504					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGGATGAACTGCCCTATGTCT	0.597																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(1510-1512)ctG>ctA		neuroligin 2							82.0	65.0	70.0					17																	7319304		2203	4300	6503	SO:0001819	synonymous_variant	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7319304G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1512G>A	17.37:g.7319304G>A						NLGN2_ENST00000575301.1_Silent_p.L504L	p.L504L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			6	1585	+		Prostate(122;0.157)	504					Q9P2I1	Silent	SNP	ENST00000302926.2	37	c.1512G>A	CCDS11103.1																																																																																				0.597	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		4	46	0	0	0	1	0	4	46				
VMA21	203547	broad.mit.edu	37	X	150572153	150572153	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150572153C>A	ENST00000330374.6	+	2	209	c.104C>A	c.(103-105)gCt>gAt	p.A35D	VMA21_ENST00000370361.1_Missense_Mutation_p.A90D|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						TTCTTCACAGCTTTAATGATC	0.348																																						ENST00000330374.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						c.(103-105)gCt>gAt		VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)							197.0	186.0	190.0					X																	150572153		2203	4300	6503	SO:0001583	missense	203547				vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome		g.chrX:150572153C>A	AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"""myopathy with excessive autophagy"""	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.104C>A	X.37:g.150572153C>A	ENSP00000333255:p.Ala35Asp					VMA21_ENST00000477649.1_3'UTR|VMA21_ENST00000370361.1_Missense_Mutation_p.A90D	p.A35D	NM_001017980.3	NP_001017980.1	Q3ZAQ7	VMA21_HUMAN			2	209	+			35						Missense_Mutation	SNP	ENST00000330374.6	37	c.104C>A	CCDS35430.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.447553	0.84101	.	.	ENSG00000160131	ENST00000370361;ENST00000330374	.	.	.	5.88	5.88	0.94601	Vacuolar ATPase assembly integral membrane protein VMA21-like domain (1);	0.134197	0.53938	D	0.000046	T	0.65333	0.2681	M	0.64997	1.995	0.43095	D	0.994777	D	0.56287	0.975	P	0.54815	0.761	T	0.68880	-0.5292	9	0.62326	D	0.03	-18.4021	9.9457	0.41607	0.0:0.907:0.0:0.093	.	35	Q3ZAQ7	VMA21_HUMAN	D	90;35	.	ENSP00000333255:A35D	A	+	2	0	VMA21	150322811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.886000	0.69743	2.478000	0.83669	0.594000	0.82650	GCT		0.348	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980		106	191	1	0	2.11273e-47	1	2.85583e-47	106	191				
LRP2	4036	broad.mit.edu	37	2	170175364	170175364	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170175364T>G	ENST00000263816.3	-	3	503	c.218A>C	c.(217-219)aAg>aCg	p.K73T	LRP2_ENST00000443831.1_Missense_Mutation_p.K73T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	73	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACTCTGGCACTTGAAATAGCC	0.463																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(217-219)aAg>aCg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						122.0	103.0	109.0					2																	170175364		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170175364T>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.218A>C	2.37:g.170175364T>G	ENSP00000263816:p.Lys73Thr					LRP2_ENST00000443831.1_Missense_Mutation_p.K73T	p.K73T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	3	503	-			73			LDL-receptor class A 2.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.218A>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.692271	0.48202	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95588	-3.75;-3.75	6.02	-9.15	0.00698	.	0.903835	0.09713	N	0.765415	D	0.83533	0.5275	N	0.12853	0.265	0.21220	N	0.999752	B;B	0.33000	0.003;0.393	B;B	0.33620	0.009;0.167	T	0.77879	-0.2423	9	.	.	.	.	1.6206	0.02713	0.3706:0.2895:0.0912:0.2487	.	73;73	E9PC35;P98164	.;LRP2_HUMAN	T	73	ENSP00000263816:K73T;ENSP00000409813:K73T	.	K	-	2	0	LRP2	169883610	0.952000	0.32445	0.004000	0.12327	0.010000	0.07245	0.390000	0.20768	-1.937000	0.01047	-1.231000	0.01572	AAG		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	32	0	0	0	1	0	10	32				
OBSCN	84033	broad.mit.edu	37	1	228543886	228543886	+	Intron	SNP	C	C	T	rs146933748	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228543886C>T	ENST00000422127.1	+	79	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.T3351T|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Silent_p.T6232T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAGAAAACCGTCATCATGT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		23478	0.0		0.002	False		,,,				2504	0.0					ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18694-18696)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	1,4217		0,1,2108	236.0	250.0	245.0		,18696	5.4	1.0	1	dbSNP_134	245	5,8489		0,5,4242	no	intron,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,6,6350	TT,TC,CC		0.0589,0.0237,0.0472	,	,6232/6621	228543886	6,12706	2109	4247	6356	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228543886C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18661+3123C>T	1.37:g.228543886C>T						OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Silent_p.T3351T|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron	p.T6232T			Q5VST9	OBSCN_HUMAN			80	18770	+		Prostate(94;0.0405)	6232					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.18696C>T	CCDS58065.1																																																																																				0.537	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		64	164	0	0	0	1	0	64	164				
DISC1	27185	broad.mit.edu	37	1	231829962	231829962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231829962C>A	ENST00000602281.1	+	2	511	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	DISC1_ENST00000317586.4_Missense_Mutation_p.S153Y|DISC1_ENST00000366636.4_Missense_Mutation_p.S153Y|DISC1_ENST00000439617.2_Missense_Mutation_p.S153Y|DISC1_ENST00000535983.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366633.3_Missense_Mutation_p.S153Y|DISC1_ENST00000537876.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.S153Y|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	153	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGGATAGTTCTGAGACCCTG	0.612																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(457-459)tCt>tAt		disrupted in schizophrenia 1							44.0	46.0	45.0					1																	231829962		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231829962C>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.458C>A	1.37:g.231829962C>A	ENSP00000473425:p.Ser153Tyr					DISC1_ENST00000537876.1_Missense_Mutation_p.S153Y|DISC1_ENST00000317586.4_Missense_Mutation_p.S153Y|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366636.4_Missense_Mutation_p.S153Y|DISC1_ENST00000539444.1_Missense_Mutation_p.S153Y|DISC1_ENST00000602281.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366633.3_Missense_Mutation_p.S153Y	p.S153Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			2	511	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	153			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.458C>A	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343417	0.24339	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	4.89	-1.86	0.07760	.	2.392500	0.00894	N	0.002270	T	0.25344	0.0616	L	0.32530	0.975	0.09310	N	1	P;P;P;D;P;D;P;P;P;P;P;P;P;P;P;P;D;P;P;P;P	0.59357	0.737;0.935;0.935;0.985;0.878;0.967;0.935;0.878;0.878;0.878;0.926;0.892;0.892;0.935;0.878;0.878;0.967;0.878;0.878;0.935;0.926	B;B;P;P;B;P;P;P;B;P;P;P;P;P;B;B;B;B;B;B;P	0.49477	0.177;0.253;0.458;0.612;0.253;0.612;0.458;0.458;0.253;0.458;0.462;0.575;0.488;0.458;0.253;0.253;0.387;0.253;0.253;0.253;0.462	T	0.26849	-1.0091	10	0.08179	T	0.78	15.6887	3.3475	0.07141	0.1277:0.3479:0.3734:0.1511	.	153;153;153;153;153;153;153;153;153;153;153;153;153;153;153;153;153;153;153;153;153	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	153;153;153;153;153;153;153;153;153;153;153;153;4	ENSP00000403888:S153Y;ENSP00000320784:S153Y;ENSP00000355596:S153Y;ENSP00000443996:S153Y;ENSP00000440909:S153Y;ENSP00000355593:S153Y;ENSP00000440953:S153Y;ENSP00000295051:S153Y;ENSP00000441193:S153Y	ENSP00000295051:S153Y	S	+	2	0	DISC1	229896585	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.341000	0.07811	-0.568000	0.06038	-0.176000	0.13171	TCT		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		10	26	1	0	7.03913e-09	1	8.47891e-09	10	26				
TMEM8A	58986	broad.mit.edu	37	16	422017	422017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:422017G>A	ENST00000431232.2	-	13	2446	c.2286C>T	c.(2284-2286)aaC>aaT	p.N762N	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Silent_p.N569N|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	762					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CCTCCCGATCGTTCTTGCAGA	0.642																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(2284-2286)aaC>aaT		transmembrane protein 8A							75.0	78.0	77.0					16																	422017		2202	4300	6502	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:422017G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2286C>T	16.37:g.422017G>A						TMEM8A_ENST00000250930.3_Silent_p.N569N	p.N762N	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			13	2446	-			762					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.2286C>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	g	0.023	-1.402579	0.01165	.	.	ENSG00000129925	ENST00000424078	.	.	.	4.3	-1.35	0.09114	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34601	-0.9822	4	.	.	.	0.8559	10.8637	0.46842	0.5779:0.0:0.4221:0.0	.	.	.	.	M	230	.	.	T	-	2	0	TMEM8A	362018	0.978000	0.34361	0.000000	0.03702	0.012000	0.07955	0.491000	0.22419	-0.402000	0.07633	-1.600000	0.00815	ACG		0.642	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	49	0	0	0	1	0	4	49				
AKAP9	10142	broad.mit.edu	37	7	91731986	91731986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91731986C>A	ENST00000359028.2	+	46	11413	c.11188C>A	c.(11188-11190)Ctg>Atg	p.L3730M	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3676M|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3726M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3730	Poly-Leu.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGCTGTTACTGGGTGGGTT	0.488			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11188-11190)Ctg>Atg		A kinase (PRKA) anchor protein 9							102.0	106.0	105.0					7																	91731986		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91731986C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11188C>A	7.37:g.91731986C>A	ENSP00000351922:p.Leu3730Met					AKAP9_ENST00000358100.2_Missense_Mutation_p.L3676M|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3726M	p.L3730M			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11413	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3730			Poly-Leu.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11188C>A		.	.	.	.	.	.	.	.	.	.	C	15.80	2.939367	0.52972	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.10382	2.96;2.9;3.03;2.88	5.32	3.54	0.40534	Pericentrin/AKAP-450 centrosomal targeting domain (1);	0.000000	0.30028	N	0.010590	T	0.34542	0.0901	M	0.84433	2.695	0.48185	D	0.9996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	T	0.13791	-1.0496	10	0.72032	D	0.01	.	11.028	0.47757	0.0:0.7925:0.0:0.2075	.	1001;3730;3730;3726;3718	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	M	3726;3730;3676;3730;1572	ENSP00000348573:L3726M;ENSP00000351922:L3730M;ENSP00000350813:L3676M;ENSP00000378042:L1572M	ENSP00000348573:L3726M	L	+	1	2	AKAP9	91569922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.216000	0.51176	0.829000	0.34733	0.585000	0.79938	CTG		0.488	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		14	207	1	0	9.31168e-06	1	1.06029e-05	14	207				
ARID2	196528	broad.mit.edu	37	12	46246205	46246205	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246205G>T	ENST00000334344.6	+	15	4471	c.4299G>T	c.(4297-4299)gaG>gaT	p.E1433D	ARID2_ENST00000422737.1_Missense_Mutation_p.E1284D|ARID2_ENST00000457135.1_Missense_Mutation_p.E41D|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.E1043D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1433					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTATACAGGAGGCTTCAAATG	0.423			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4297-4299)gaG>gaT		AT rich interactive domain 2 (ARID, RFX-like)							120.0	120.0	120.0					12																	46246205		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246205G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4299G>T	12.37:g.46246205G>T	ENSP00000335044:p.Glu1433Asp					ARID2_ENST00000444670.1_Missense_Mutation_p.E1043D|ARID2_ENST00000457135.1_Missense_Mutation_p.E41D|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E1284D	p.E1433D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4471	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1433					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4299G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	8.946	0.967098	0.18659	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.34859	1.34	6.07	4.97	0.65823	.	0.063348	0.64402	D	0.000004	T	0.19725	0.0474	N	0.14661	0.345	0.35484	D	0.798368	B;B;B	0.14438	0.01;0.01;0.002	B;B;B	0.13407	0.009;0.009;0.003	T	0.18555	-1.0333	10	0.22706	T	0.39	-12.6391	7.7333	0.28799	0.1008:0.0:0.7515:0.1477	.	1433;1043;1433	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	D	1433;550;550;1284;1043;41	ENSP00000335044:E1433D	ENSP00000335044:E1433D	E	+	3	2	ARID2	44532472	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	2.692000	0.47018	1.229000	0.43630	0.655000	0.94253	GAG		0.423	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		11	116	1	0	1.08611e-07	1	1.2824e-07	11	116				
SUSD4	55061	broad.mit.edu	37	1	223402633	223402633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223402633G>A	ENST00000343846.3	-	5	1455	c.822C>T	c.(820-822)tgC>tgT	p.C274C	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000494793.2_Silent_p.C274C|SUSD4_ENST00000484758.2_Silent_p.C205C|SUSD4_ENST00000454695.2_Silent_p.C114C|SUSD4_ENST00000366878.4_Silent_p.C274C			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	274	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCAGGATCGCAGTAAAACT	0.512																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(820-822)tgC>tgT		sushi domain containing 4							108.0	118.0	115.0					1																	223402633		2138	4242	6380	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223402633G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.822C>T	1.37:g.223402633G>A						SUSD4_ENST00000454695.2_Silent_p.C114C|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.C274C	p.C274C			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	5	1455	-			274			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.822C>T	CCDS41471.1																																																																																				0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		28	24	0	0	0	1	0	28	24				
OR4C15	81309	broad.mit.edu	37	11	55321995	55321995	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321995G>T	ENST00000314644.2	+	1	213	c.213G>T	c.(211-213)caG>caT	p.Q71H		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTTTCACAGAATCCAAATG	0.403										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(211-213)caG>caT		olfactory receptor, family 4, subfamily C, member 15							122.0	125.0	124.0					11																	55321995		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321995G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.213G>T	11.37:g.55321995G>T	ENSP00000324958:p.Gln71His	HNSCC(20;0.049)					p.Q71H	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	213	+			17					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.213G>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254990	0.39896	.	.	ENSG00000181939	ENST00000314644	T	0.00039	8.85	5.12	2.05	0.26809	.	.	.	.	.	T	0.00271	0.0008	L	0.54908	1.71	0.09310	N	1	D	0.61080	0.989	P	0.59171	0.853	T	0.52094	-0.8621	9	0.87932	D	0	.	7.2716	0.26260	0.0823:0.0:0.6205:0.2972	.	17	Q8NGM1	OR4CF_HUMAN	H	71	ENSP00000324958:Q71H	ENSP00000324958:Q71H	Q	+	3	2	OR4C15	55078571	0.000000	0.05858	0.865000	0.33974	0.622000	0.37654	-0.797000	0.04570	0.727000	0.32360	0.385000	0.25706	CAG		0.403	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		62	115	1	0	1.93748e-29	1	2.59308e-29	62	115				
GABRB3	2562	broad.mit.edu	37	15	26866633	26866633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:26866633G>A	ENST00000311550.5	-	4	400	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F	GABRB3_ENST00000545868.1_Missense_Mutation_p.L12F|GABRB3_ENST00000541819.2_Missense_Mutation_p.L153F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L26F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L97F	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	97				L -> H (in Ref. 2; BAH13811). {ECO:0000305}.	cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAATAGGCGAGCCTTTTATCT	0.423																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(457-459)Ctc>Ttc		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						91.0	91.0	91.0					15																	26866633		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866633G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.289C>T	15.37:g.26866633G>A	ENSP00000308725:p.Leu97Phe					GABRB3_ENST00000545868.1_Missense_Mutation_p.L12F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L97F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L26F|GABRB3_ENST00000311550.5_Missense_Mutation_p.L97F	p.L153F			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	559	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	97					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.457C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038783	0.75617	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.81	4.71	0.59529	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.95158	0.8279	10	0.87932	D	0	.	13.6301	0.62189	0.1253:0.0:0.8747:0.0	.	153;97;97	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	F	97;153;97;26;12;12	ENSP00000308725:L97F;ENSP00000442408:L153F;ENSP00000299267:L97F;ENSP00000383049:L26F;ENSP00000439169:L12F;ENSP00000452272:L12F	ENSP00000299267:L97F	L	-	1	0	GABRB3	24417726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.677000	0.61634	2.752000	0.94435	0.467000	0.42956	CTC		0.423	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			19	36	0	0	0	1	0	19	36				
ZNF300	91975	broad.mit.edu	37	5	150276353	150276353	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276353A>C	ENST00000274599.5	-	6	868	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V	ZNF300_ENST00000394226.2_Missense_Mutation_p.F150V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.F114V|ZNF300_ENST00000446148.2_Missense_Mutation_p.F166V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTAACAAATGTGACCTGC	0.393																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(496-498)Ttt>Gtt		zinc finger protein 300							131.0	128.0	129.0					5																	150276353		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276353A>C	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.448T>G	5.37:g.150276353A>C	ENSP00000274599:p.Phe150Val					ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.F150V|ZNF300_ENST00000418587.2_Missense_Mutation_p.F114V|ZNF300_ENST00000394226.2_Missense_Mutation_p.F150V	p.F166V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	923	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	150					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.496T>G	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	A	0.369	-0.934984	0.02340	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07567	3.25;3.26;3.18;3.26	2.86	0.774	0.18521	.	.	.	.	.	T	0.04227	0.0117	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45991	-0.9223	9	0.02654	T	1	.	2.7302	0.05225	0.3397:0.3416:0.0:0.3187	.	150	Q96RE9	ZN300_HUMAN	V	166;150;114;150	ENSP00000397178:F166V;ENSP00000274599:F150V;ENSP00000392593:F114V;ENSP00000377773:F150V	ENSP00000274599:F150V	F	-	1	0	ZNF300	150256546	0.001000	0.12720	0.004000	0.12327	0.224000	0.24922	0.488000	0.22371	0.174000	0.19809	0.455000	0.32223	TTT		0.393	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		47	85	0	0	0	1	0	47	85				
ACAD11	84129	broad.mit.edu	37	3	132361638	132361638	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132361638T>G	ENST00000264990.6	-	3	1229	c.258A>C	c.(256-258)agA>agC	p.R86S	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.R86S|ACAD11_ENST00000355458.3_Missense_Mutation_p.R86S|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	86					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CTTTAAATTCTCTATCAATCT	0.318																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(256-258)agA>agC		acyl-CoA dehydrogenase family, member 11							77.0	82.0	80.0					3																	132361638		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132361638T>G	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.258A>C	3.37:g.132361638T>G	ENSP00000264990:p.Arg86Ser					ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.R86S|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.R86S	p.R86S	NM_032169.4	NP_115545.3					3	1229	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.258A>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877510	0.72294	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.32272	1.46;1.46;1.46	6.06	2.45	0.29901	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.66086	0.2754	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.63825	-0.6549	9	0.87932	D	0	.	4.7861	0.13225	0.1272:0.2729:0.0:0.5999	.	86;86	D6RDI8;Q709F0	.;ACD11_HUMAN	S	86	ENSP00000347636:R86S;ENSP00000264990:R86S;ENSP00000420907:R86S	ENSP00000264990:R86S	R	-	3	2	ACAD11	133844328	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.336000	0.33850	0.197000	0.20387	0.533000	0.62120	AGA		0.318	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		10	67	0	0	0	1	0	10	67				
ZZZ3	26009	broad.mit.edu	37	1	78041867	78041867	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78041867A>G	ENST00000370801.3	-	12	2692	c.2217T>C	c.(2215-2217)caT>caC	p.H739H	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Silent_p.H245H	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	739					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTTAAAGAGATGCTTATTAA	0.363																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2215-2217)caT>caC		zinc finger, ZZ-type containing 3							197.0	178.0	185.0					1																	78041867		2203	4300	6503	SO:0001819	synonymous_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78041867A>G	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2217T>C	1.37:g.78041867A>G						ZZZ3_ENST00000370798.1_Silent_p.H245H|ZZZ3_ENST00000476275.1_5'UTR	p.H739H	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			12	2692	-			739					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	c.2217T>C	CCDS677.1																																																																																				0.363	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		12	173	0	0	0	1	0	12	173				
CCDC7	79741	broad.mit.edu	37	10	33137576	33137576	+	Silent	SNP	C	C	A	rs557982096		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33137576C>A	ENST00000375030.2	+	20	2049	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	C10orf68_ENST00000375025.4_Silent_p.I582I|C10orf68_ENST00000375028.3_Silent_p.I522I			Q9H943	CJ068_HUMAN		518										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAGAAGGTATCTTTACTAGGA	0.279													C|||	1	0.000199681	0.0	0.0	5008	,	,		16165	0.0		0.0	False		,,,				2504	0.001					ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1429-1431)atC>atA		chromosome 10 open reading frame 68							76.0	76.0	76.0					10																	33137576		2202	4291	6493	SO:0001819	synonymous_variant	79741							g.chr10:33137576C>A																												ENST00000375030.2:c.1431C>A	10.37:g.33137576C>A						C10orf68_ENST00000375028.3_Silent_p.I522I|C10orf68_ENST00000375025.4_Silent_p.I582I	p.I477I			Q9H943	CJ068_HUMAN			20	2049	+			518					B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375030.2	37	c.1431C>A																																																																																					0.279	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			7	76	1	0	0.0293803	1	0.0301098	7	76				
AATK	9625	broad.mit.edu	37	17	79093232	79093232	+	Silent	SNP	C	C	T	rs528163975		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093232C>T	ENST00000326724.4	-	13	4056	c.4032G>A	c.(4030-4032)acG>acA	p.T1344T	AATK_ENST00000417379.1_Silent_p.T1241T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1344					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAAGCGGGACGTGGGCGCGG	0.736																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(4030-4032)acG>acA		apoptosis-associated tyrosine kinase							17.0	21.0	20.0					17																	79093232		2009	4135	6144	SO:0001819	synonymous_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79093232C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.4032G>A	17.37:g.79093232C>T						AATK_ENST00000417379.1_Silent_p.T1241T	p.T1344T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		13	4056	-	all_neural(118;0.101)		1344					O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	c.4032G>A	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	0.877	-0.729970	0.03135	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.52	-3.66	0.04489	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47787	-0.9090	4	.	.	.	.	8.0351	0.30488	0.0:0.4631:0.3145:0.2223	.	.	.	.	H	1297	.	.	R	-	2	0	AATK	76707827	0.000000	0.05858	0.192000	0.23308	0.011000	0.07611	-0.828000	0.04419	-0.730000	0.04869	-1.892000	0.00534	CGT		0.736	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		6	13	0	0	0	1	0	6	13				
COA6	388753	broad.mit.edu	37	1	234510123	234510123	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234510123T>C	ENST00000366613.1	+	2	306	c.270T>C	c.(268-270)tgT>tgC	p.C90C	COA6_ENST00000366612.1_Silent_p.C44C|RP5-827C21.6_ENST00000610233.1_RNA|RP5-827C21.4_ENST00000451795.1_RNA|COA6_ENST00000366615.4_Silent_p.C120C	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	90						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										AATCAAGTTGTCCCCAACAGT	0.463																																						ENST00000366612.1																			0											c.(130-132)tgT>tgC		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							105.0	103.0	104.0					1																	234510123		2203	4300	6503	SO:0001819	synonymous_variant	388753							g.chr1:234510123T>C		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.270T>C	1.37:g.234510123T>C						COA6_ENST00000366613.1_Silent_p.C90C|COA6_ENST00000366615.4_Silent_p.C120C	p.C44C							1	677	+								Q5JTJ2|Q5JTJ4|Q8TA88	Silent	SNP	ENST00000366613.1	37	c.132T>C	CCDS31059.1																																																																																				0.463	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		17	88	0	0	0	1	0	17	88				
GUCY2C	2984	broad.mit.edu	37	12	14805895	14805895	+	Silent	SNP	G	G	A	rs373688944		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14805895G>A	ENST00000261170.3	-	13	1660	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCTTTTTGTCGTATTTGCACT	0.478																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1522-1524)taC>taT		guanylate cyclase 2C (heat stable enterotoxin receptor)		G		1,4405	2.1+/-5.4	0,1,2202	357.0	272.0	301.0		1524	-6.1	0.8	12		301	0,8600		0,0,4300	no	coding-synonymous	GUCY2C	NM_004963.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		508/1074	14805895	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14805895G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1524C>T	12.37:g.14805895G>A							p.Y508Y	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			13	1660	-			508			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1524C>T	CCDS8664.1																																																																																				0.478	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			56	89	0	0	0	1	0	56	89				
NLRP11	204801	broad.mit.edu	37	19	56320975	56320975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56320975C>T	ENST00000589093.1	-	3	1094	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D	NLRP11_ENST00000592953.1_Missense_Mutation_p.G235D|NLRP11_ENST00000589824.2_Missense_Mutation_p.G334D|NLRP11_ENST00000360133.3_Missense_Mutation_p.G334D|NLRP11_ENST00000443188.1_Missense_Mutation_p.G334D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	334	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCGGCACAGACCCACGAGTAT	0.527																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1000-1002)gGt>gAt		NLR family, pyrin domain containing 11							49.0	45.0	47.0					19																	56320975		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320975C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1001G>A	19.37:g.56320975C>T	ENSP00000466285:p.Gly334Asp					NLRP11_ENST00000592953.1_Missense_Mutation_p.G235D|NLRP11_ENST00000589824.2_Missense_Mutation_p.G334D|NLRP11_ENST00000589093.1_Missense_Mutation_p.G334D|NLRP11_ENST00000360133.3_Missense_Mutation_p.G334D	p.G334D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1711	-		Colorectal(82;0.0002)	334			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1001G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	5.421	0.262749	0.10294	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74106	-0.81;-0.74	2.48	-3.47	0.04753	.	.	.	.	.	T	0.46405	0.1391	N	0.02539	-0.55	0.09310	N	1	B;P	0.41498	0.003;0.752	B;P	0.46076	0.01;0.503	T	0.46205	-0.9208	9	0.12103	T	0.63	.	5.0846	0.14675	0.0:0.2409:0.162:0.597	.	334;334	P59045;P59045-2	NAL11_HUMAN;.	D	334	ENSP00000409898:G334D;ENSP00000353251:G334D	ENSP00000353251:G334D	G	-	2	0	NLRP11	61012787	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.099000	0.00605	-0.823000	0.04301	-0.345000	0.07892	GGT		0.527	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		4	42	0	0	0	1	0	4	42				
MOB3B	79817	broad.mit.edu	37	9	27455471	27455471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27455471C>A	ENST00000262244.5	-	2	502	c.78G>T	c.(76-78)caG>caT	p.Q26H		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	26							metal ion binding (GO:0046872)										GCTCAAACCTCTGTGTGCCAG	0.547																																						ENST00000262244.5																			0											c.(76-78)caG>caT		MOB kinase activator 3B							206.0	198.0	200.0					9																	27455471		2203	4300	6503	SO:0001583	missense	79817						metal ion binding|protein binding	g.chr9:27455471C>A	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.78G>T	9.37:g.27455471C>A	ENSP00000262244:p.Gln26His						p.Q26H	NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN			2	502	-			26					Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	c.78G>T	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614519	0.28712	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.89	3.03	0.35002	.	0.000000	0.64402	D	0.000001	T	0.52322	0.1727	L	0.53671	1.685	0.47245	D	0.999369	P	0.48016	0.904	P	0.51866	0.682	T	0.45454	-0.9260	9	0.30854	T	0.27	-25.1728	6.3521	0.21381	0.0:0.6518:0.1328:0.2154	.	26	Q86TA1	MOB3B_HUMAN	H	26	.	ENSP00000262244:Q26H	Q	-	3	2	MOBKL2B	27445471	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.086000	0.41643	0.828000	0.34709	0.557000	0.71058	CAG		0.547	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		8	160	1	0	0.00307968	1	0.00325696	8	160				
TFB2M	64216	broad.mit.edu	37	1	246729428	246729428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246729428C>A	ENST00000366514.4	-	1	198	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	TFB2M_ENST00000544618.1_Missense_Mutation_p.V5L|CNST_ENST00000366512.3_5'Flank|CNST_ENST00000366513.4_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	5					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGCCCGACCACTGGGATCCAC	0.597																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(13-15)Gtg>Ttg		transcription factor B2, mitochondrial							25.0	30.0	28.0					1																	246729428		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246729428C>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.13G>T	1.37:g.246729428C>A	ENSP00000355471:p.Val5Leu					TFB2M_ENST00000544618.1_Missense_Mutation_p.V5L	p.V5L	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		1	198	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		5					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.13G>T	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181451	0.38511	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T	0.34072	1.38	4.94	4.03	0.46877	.	1.297350	0.05446	N	0.548615	T	0.28433	0.0703	L	0.27053	0.805	0.09310	N	1	B	0.30914	0.3	B	0.25405	0.06	T	0.23583	-1.0184	10	0.54805	T	0.06	-1.5162	9.1943	0.37217	0.0:0.9013:0.0:0.0987	.	5	Q9H5Q4	TFB2M_HUMAN	L	5	ENSP00000355471:V5L	ENSP00000355471:V5L	V	-	1	0	TFB2M	244796051	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.185000	0.16958	1.300000	0.44818	0.462000	0.41574	GTG		0.597	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		16	18	1	0	3.52763e-06	1	4.04633e-06	16	18				
FERMT3	83706	broad.mit.edu	37	11	63978187	63978187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63978187G>A	ENST00000279227.5	+	3	360	c.265G>A	c.(265-267)Gca>Aca	p.A89T	FERMT3_ENST00000345728.5_Missense_Mutation_p.A89T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	89					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCTGGCCGACGCACGCCTCTT	0.637																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(265-267)Gca>Aca		fermitin family member 3							111.0	114.0	113.0					11																	63978187		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978187G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.265G>A	11.37:g.63978187G>A	ENSP00000279227:p.Ala89Thr					FERMT3_ENST00000345728.5_Missense_Mutation_p.A89T	p.A89T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			3	360	+			89					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.265G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586507	0.66105	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.15952	2.38;2.38;2.38	3.68	3.68	0.42216	.	0.067671	0.56097	D	0.000023	T	0.33527	0.0866	L	0.55990	1.75	0.58432	D	0.999993	D;B	0.89917	1.0;0.287	D;B	0.85130	0.997;0.067	T	0.04855	-1.0922	10	0.18276	T	0.48	-15.8355	14.7459	0.69490	0.0:0.0:1.0:0.0	.	89;89	Q86UX7-2;Q86UX7	.;URP2_HUMAN	T	89	ENSP00000445778:A89T;ENSP00000339950:A89T;ENSP00000279227:A89T	ENSP00000279227:A89T	A	+	1	0	FERMT3	63734763	1.000000	0.71417	0.798000	0.32154	0.602000	0.36980	9.096000	0.94182	2.079000	0.62486	0.555000	0.69702	GCA		0.637	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		56	106	0	0	0	1	0	56	106				
C5	727	broad.mit.edu	37	9	123794416	123794416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123794416G>A	ENST00000223642.1	-	6	671	c.642C>T	c.(640-642)acC>acT	p.T214T		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	214					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CAAAATATGCGGTTCCAGTTG	0.323																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(640-642)acC>acT		complement component 5	Eculizumab(DB01257)						89.0	95.0	93.0					9																	123794416		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123794416G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.642C>T	9.37:g.123794416G>A							p.T214T	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	6	671	-			214					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.642C>T	CCDS6826.1																																																																																				0.323	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		19	30	0	0	0	1	0	19	30				
DPYSL4	10570	broad.mit.edu	37	10	134013930	134013930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134013930C>T	ENST00000338492.4	+	9	1046	c.882C>T	c.(880-882)aaC>aaT	p.N294N	DPYSL4_ENST00000368629.1_Silent_p.N194N|DPYSL4_ENST00000368627.1_Silent_p.N194N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	294					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGAGCAAGAACTGGGCCAAGG	0.652																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(880-882)aaC>aaT		dihydropyrimidinase-like 4							133.0	118.0	123.0					10																	134013930		2203	4300	6503	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134013930C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.882C>T	10.37:g.134013930C>T						DPYSL4_ENST00000368627.1_Silent_p.N194N|DPYSL4_ENST00000368629.1_Silent_p.N194N	p.N294N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	9	1046	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	294					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.882C>T	CCDS7665.1																																																																																				0.652	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			27	36	0	0	0	1	0	27	36				
U2AF1	7307	broad.mit.edu	37	21	44524474	44524474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44524474C>T	ENST00000291552.4	-	2	175	c.83G>A	c.(82-84)cGt>cAt	p.R28H	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R28H|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	28					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCTCCATGACGACATGCTCC	0.363			Mis		"""CLL, MDS"""																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(82-84)cGt>cAt		U2 small nuclear RNA auxiliary factor 1							69.0	65.0	66.0					21																	44524474		2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524474C>T	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.83G>A	21.37:g.44524474C>T	ENSP00000291552:p.Arg28His					U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R28H|U2AF1_ENST00000486519.1_5'UTR	p.R28H	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	175	-			28					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.83G>A	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738068	0.89573	.	.	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46451	0.87;0.87	5.46	5.46	0.80206	Zinc finger, CCCH-type (3);	0.048039	0.85682	N	0.000000	T	0.68888	0.3050	M	0.91038	3.17	0.80722	D	1	P;P;D	0.56968	0.696;0.891;0.978	B;P;P	0.56398	0.344;0.629;0.797	T	0.77073	-0.2723	10	0.72032	D	0.01	-8.2103	19.2974	0.94128	0.0:1.0:0.0:0.0	.	28;28;28	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	H	28	ENSP00000369629:R28H;ENSP00000291552:R28H	ENSP00000291552:R28H	R	-	2	0	U2AF1	43397543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.019000	0.76412	2.556000	0.86216	0.557000	0.71058	CGT		0.363	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		19	23	0	0	0	1	0	19	23				
VPS13C	54832	broad.mit.edu	37	15	62238573	62238573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62238573G>A	ENST00000261517.5	-	44	4986	c.4913C>T	c.(4912-4914)aCt>aTt	p.T1638I	VPS13C_ENST00000249837.3_Missense_Mutation_p.T1595I|VPS13C_ENST00000395896.4_Missense_Mutation_p.T1638I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T1595I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAACACATCAGTCTGCTTAGG	0.318																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4912-4914)aCt>aTt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							56.0	54.0	55.0					15																	62238573		2203	4296	6499	SO:0001583	missense	54832				protein localization			g.chr15:62238573G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4913C>T	15.37:g.62238573G>A	ENSP00000261517:p.Thr1638Ile					VPS13C_ENST00000395896.4_Missense_Mutation_p.T1638I|VPS13C_ENST00000249837.3_Missense_Mutation_p.T1595I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T1595I	p.T1638I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			44	4986	-			1638						Missense_Mutation	SNP	ENST00000261517.5	37	c.4913C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908844	0.52439	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.46063	0.88;0.88;0.88;0.92	5.47	5.47	0.80525	.	0.057926	0.64402	D	0.000002	T	0.39682	0.1087	L	0.49455	1.56	0.58432	D	0.999995	B;B;P;B	0.35714	0.318;0.272;0.517;0.092	B;B;B;B	0.37422	0.139;0.209;0.249;0.103	T	0.20438	-1.0275	10	0.36615	T	0.2	.	13.0851	0.59135	0.0834:0.0:0.9166:0.0	.	1595;1638;1595;1638	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	1595;1638;1638;1638	ENSP00000249837:T1595I;ENSP00000261517:T1638I;ENSP00000379233:T1638I;ENSP00000379235:T1638I	ENSP00000249837:T1595I	T	-	2	0	VPS13C	60025865	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.143000	0.64826	2.569000	0.86673	0.650000	0.86243	ACT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		18	22	0	0	0	1	0	18	22				
ITIH4	3700	broad.mit.edu	37	3	52860641	52860641	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52860641C>A	ENST00000266041.4	-	5	642	c.546G>T	c.(544-546)caG>caT	p.Q182H	ITIH4_ENST00000434759.3_Missense_Mutation_p.Q94H|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q182H|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.Q182H|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q182H	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	182					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCTGATGCCCTGGGGCTCGA	0.587																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(544-546)caG>caT		inter-alpha-trypsin inhibitor heavy chain family, member 4							90.0	83.0	85.0					3																	52860641		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52860641C>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.546G>T	3.37:g.52860641C>A	ENSP00000266041:p.Gln182His					ITIH4_ENST00000485816.1_Missense_Mutation_p.Q182H|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q182H|ITIH4_ENST00000434759.3_Missense_Mutation_p.Q94H|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q182H	p.Q182H	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	5	642	-			182					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.546G>T	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.68|15.68	2.904650|2.904650	0.52333|0.52333	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.|T;T;T;T;T	.|0.03358	.|4.74;4.72;4.76;4.78;3.96	5.27|5.27	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	T|T	0.14874|0.14874	0.0359|0.0359	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	.|P;P;B;P	.|0.39250	.|0.553;0.553;0.338;0.665	.|B;B;B;P	.|0.51516	.|0.132;0.172;0.132;0.672	T|T	0.00297|0.00297	-1.1838|-1.1838	5|10	.|0.72032	.|D	.|0.01	-24.8528|-24.8528	11.2925|11.2925	0.49258|0.49258	0.0:0.8489:0.0:0.1511|0.0:0.8489:0.0:0.1511	.|.	.|182;182;182;182	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	W|H	52|182;182;182;182;170;94	.|ENSP00000266041:Q182H;ENSP00000340520:Q182H;ENSP00000417824:Q182H;ENSP00000384425:Q182H;ENSP00000440036:Q94H	.|ENSP00000266041:Q182H	G|Q	-|-	1|3	0|2	ITIH4|ITIH4	52835681|52835681	0.265000|0.265000	0.24102|0.24102	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	-0.389000|-0.389000	0.07342|0.07342	1.226000|1.226000	0.43582|0.43582	0.655000|0.655000	0.94253|0.94253	GGG|CAG		0.587	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		24	23	1	0	9.57634e-11	1	1.18454e-10	24	23				
TMEM132B	114795	broad.mit.edu	37	12	126004064	126004064	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126004064A>G	ENST00000299308.3	+	4	1179	c.1171A>G	c.(1171-1173)Att>Gtt	p.I391V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	391						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCCCAGCAGATTACCTGGCA	0.502																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1171-1173)Att>Gtt		transmembrane protein 132B							98.0	100.0	100.0					12																	126004064		1912	4103	6015	SO:0001583	missense	114795					integral to membrane		g.chr12:126004064A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1171A>G	12.37:g.126004064A>G	ENSP00000299308:p.Ile391Val						p.I391V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	4	1179	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		391					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1171A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	a	10.67	1.414860	0.25465	.	.	ENSG00000139364	ENST00000299308	T	0.19938	2.11	4.98	2.25	0.28309	.	0.288673	0.16355	U	0.218029	T	0.12603	0.0306	N	0.21508	0.67	0.80722	D	1	B	0.12630	0.006	B	0.14578	0.011	T	0.10042	-1.0647	10	0.15952	T	0.53	.	10.0814	0.42393	0.837:0.0:0.163:0.0	.	391	Q14DG7	T132B_HUMAN	V	391	ENSP00000299308:I391V	ENSP00000299308:I391V	I	+	1	0	TMEM132B	124570017	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	3.809000	0.55606	0.768000	0.33290	0.510000	0.49958	ATT		0.502	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		7	70	0	0	0	1	0	7	70				
IRF8	3394	broad.mit.edu	37	16	85942614	85942614	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942614G>T	ENST00000268638.5	+	3	615	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	IRF8_ENST00000563180.1_Missense_Mutation_p.G65W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	65					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTTTTTAAAGGGAAGTTTAA	0.473																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(193-195)Ggg>Tgg		interferon regulatory factor 8							55.0	59.0	58.0					16																	85942614		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85942614G>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.193G>T	16.37:g.85942614G>T	ENSP00000268638:p.Gly65Trp					IRF8_ENST00000563180.1_Missense_Mutation_p.G65W	p.G65W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			3	615	+		Prostate(104;0.0771)	65					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.193G>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703513	0.88924	.	.	ENSG00000140968	ENST00000268638	D	0.98567	-5.0	4.93	4.93	0.64822	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98920	1.0783	10	0.87932	D	0	-33.0869	18.4934	0.90855	0.0:0.0:1.0:0.0	.	65;65	B2R8V7;Q02556	.;IRF8_HUMAN	W	65	ENSP00000268638:G65W	ENSP00000268638:G65W	G	+	1	0	IRF8	84500115	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.282000	0.95840	2.451000	0.82905	0.484000	0.47621	GGG		0.473	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		13	51	1	0	1.5842e-08	1	1.90059e-08	13	51				
ABCC10	89845	broad.mit.edu	37	6	43410717	43410717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43410717C>A	ENST00000372530.4	+	10	2451	c.2236C>A	c.(2236-2238)Ctc>Atc	p.L746I	ABCC10_ENST00000244533.3_Missense_Mutation_p.L718I	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	746	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGAAAAGGAGCTCTATCTCCT	0.562																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2152-2154)Ctc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							77.0	63.0	68.0					6																	43410717		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43410717C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2236C>A	6.37:g.43410717C>A	ENSP00000361608:p.Leu746Ile					ABCC10_ENST00000372530.4_Missense_Mutation_p.L746I	p.L718I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		8	2511	+	all_lung(25;0.00536)		746			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.2152C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082654	0.20309	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94232	-3.38;-3.38	6.03	6.03	0.97812	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.059488	0.64402	D	0.000001	T	0.82047	0.4952	N	0.05414	-0.055	0.44454	D	0.997384	B;P	0.40000	0.003;0.698	B;P	0.45753	0.017;0.492	D	0.83516	0.0083	10	0.02654	T	1	-43.2245	18.8047	0.92032	0.0:1.0:0.0:0.0	.	718;746	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	I	746;718	ENSP00000361608:L746I;ENSP00000244533:L718I	ENSP00000244533:L718I	L	+	1	0	ABCC10	43518695	0.110000	0.22057	1.000000	0.80357	0.778000	0.44026	0.657000	0.24963	2.886000	0.99085	0.644000	0.83932	CTC		0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		11	26	1	0	4.3838e-07	1	5.12524e-07	11	26				
ITFG2	55846	broad.mit.edu	37	12	2930857	2930857	+	Splice_Site	SNP	G	G	T	rs199819746		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2930857G>T	ENST00000228799.2	+	9	986		c.e9-1		ITFG2_ENST00000419778.2_Splice_Site|ITFG2_ENST00000542548.1_Splice_Site	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2						germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCCCGGCAGGGACACTGAA	0.582																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.e9-1		integrin alpha FG-GAP repeat containing 2							83.0	82.0	82.0					12																	2930857		2203	4300	6503	SO:0001630	splice_region_variant	55846							g.chr12:2930857G>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.848-1G>T	12.37:g.2930857G>T						ITFG2_ENST00000542548.1_Splice_Site|ITFG2_ENST00000419778.2_Splice_Site		NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		9	986	+								A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Splice_Site	SNP	ENST00000228799.2	37		CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201817	0.58234	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	.	.	.	5.21	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1244	0.72472	0.0:0.1417:0.8583:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITFG2	2801118	1.000000	0.71417	0.985000	0.45067	0.691000	0.40173	9.701000	0.98710	1.191000	0.43056	0.449000	0.29647	.		0.582	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463	Intron	33	45	1	0	5.91797e-21	1	7.77867e-21	33	45				
PSPC1	55269	broad.mit.edu	37	13	20315777	20315777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20315777C>T	ENST00000338910.4	-	5	1139	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	327	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTTCTTGACGCCTCATTAG	0.333																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(979-981)cGt>cAt		paraspeckle component 1							118.0	104.0	108.0					13																	20315777		1808	4073	5881	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20315777C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.980G>A	13.37:g.20315777C>T	ENSP00000343966:p.Arg327His						p.R327H	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	5	1139	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	327			Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.980G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317009	0.81469	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.20332	2.08	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	L	0.60957	1.885	0.80722	D	1	D	0.59767	0.986	P	0.45406	0.479	T	0.07731	-1.0757	10	0.87932	D	0	-10.7112	18.9836	0.92763	0.0:1.0:0.0:0.0	.	327	Q8WXF1	PSPC1_HUMAN	H	327;267	ENSP00000343966:R327H	ENSP00000343966:R327H	R	-	2	0	PSPC1	19213777	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.721000	0.84768	2.573000	0.86826	0.650000	0.86243	CGT		0.333	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			40	44	0	0	0	1	0	40	44				
CDAN1	146059	broad.mit.edu	37	15	43026474	43026474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43026474G>T	ENST00000356231.3	-	7	1230	c.1207C>A	c.(1207-1209)Cca>Aca	p.P403T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	403					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGCAGAGCTGGTGAGAAGCAC	0.562																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(1207-1209)Cca>Aca		codanin 1							65.0	63.0	64.0					15																	43026474		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43026474G>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1207C>A	15.37:g.43026474G>T	ENSP00000348564:p.Pro403Thr						p.P403T	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	7	1230	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	403					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1207C>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124557	0.77436	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.90324	-2.65	5.44	5.44	0.79542	.	0.056135	0.64402	D	0.000001	D	0.93874	0.8040	M	0.70275	2.135	0.49130	D	0.999751	D	0.76494	0.999	D	0.65323	0.934	D	0.94064	0.7329	10	0.72032	D	0.01	-9.079	12.592	0.56447	0.0758:0.0:0.9242:0.0	.	403	Q8IWY9	CDAN1_HUMAN	T	403;401	ENSP00000348564:P403T	ENSP00000267892:P401T	P	-	1	0	CDAN1	40813766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.109000	0.71528	2.553000	0.86117	0.563000	0.77884	CCA		0.562	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		21	46	1	0	2.4624e-09	1	2.98951e-09	21	46				
NOX4	50507	broad.mit.edu	37	11	89106614	89106614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89106614A>G	ENST00000263317.4	-	12	1359	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	NOX4_ENST00000375979.3_Missense_Mutation_p.V67A|NOX4_ENST00000534731.1_Missense_Mutation_p.V374A|NOX4_ENST00000527626.1_Missense_Mutation_p.V208A|NOX4_ENST00000532825.1_Missense_Mutation_p.V350A|NOX4_ENST00000343727.5_Missense_Mutation_p.V350A|NOX4_ENST00000535633.1_Missense_Mutation_p.V350A|NOX4_ENST00000542487.1_Missense_Mutation_p.V350A|NOX4_ENST00000424319.1_Missense_Mutation_p.V350A|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.V395A|NOX4_ENST00000528341.1_Missense_Mutation_p.V349A|NOX4_ENST00000531342.1_Missense_Mutation_p.V67A|NOX4_ENST00000527956.1_Missense_Mutation_p.V350A			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	374	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAGTCTCCTACTATTTTAAG	0.274																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(1048-1050)gTa>gCa		NADPH oxidase 4							101.0	111.0	107.0					11																	89106614		2201	4284	6485	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106614A>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1121T>C	11.37:g.89106614A>G	ENSP00000263317:p.Val374Ala					NOX4_ENST00000532825.1_Missense_Mutation_p.V350A|NOX4_ENST00000527626.1_Missense_Mutation_p.V208A|NOX4_ENST00000424319.1_Missense_Mutation_p.V350A|NOX4_ENST00000531342.1_Missense_Mutation_p.V67A|NOX4_ENST00000528341.1_Missense_Mutation_p.V349A|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.V395A|NOX4_ENST00000375979.3_Missense_Mutation_p.V67A|NOX4_ENST00000542487.1_Missense_Mutation_p.V350A|NOX4_ENST00000343727.5_Missense_Mutation_p.V350A|NOX4_ENST00000527956.1_Missense_Mutation_p.V350A|NOX4_ENST00000534731.1_Missense_Mutation_p.V374A|NOX4_ENST00000263317.4_Missense_Mutation_p.V374A	p.V350A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1359	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	374			FAD-binding FR-type.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1049T>C	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.209329	0.39003	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D	0.93247	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-3.19;-3.12	5.18	5.18	0.71444	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	L	0.37750	1.13	0.46478	D	0.99906	B;P;P;P;P;P;B	0.52577	0.127;0.647;0.938;0.954;0.473;0.739;0.392	B;P;P;D;B;B;B	0.65140	0.262;0.688;0.718;0.932;0.135;0.435;0.115	D	0.92787	0.6245	9	.	.	.	-11.1106	12.5716	0.56341	1.0:0.0:0.0:0.0	.	350;208;349;67;67;374;374	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	A	350;350;350;374;374;350;350;350;208;349;395;67;67	ENSP00000412446:V350A;ENSP00000440172:V350A;ENSP00000344747:V350A;ENSP00000436892:V374A;ENSP00000263317:V374A;ENSP00000434924:V350A;ENSP00000433797:V350A;ENSP00000439373:V350A;ENSP00000436093:V208A;ENSP00000436970:V349A;ENSP00000405705:V395A;ENSP00000435039:V67A;ENSP00000365146:V67A	.	V	-	2	0	NOX4	88746262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.807000	0.69157	1.959000	0.56917	0.460000	0.39030	GTA		0.274	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		32	93	0	0	0	1	0	32	93				
POLR2C	5432	broad.mit.edu	37	16	57503104	57503104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57503104G>A	ENST00000219252.5	+	5	624	c.286G>A	c.(286-288)Gag>Aag	p.E96K	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	96	Cys-rich.				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GTTCTGCCCCGAGTGCTCGGT	0.572																																						ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(286-288)Gag>Aag		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							144.0	120.0	128.0					16																	57503104		2198	4300	6498	SO:0001583	missense	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57503104G>A		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.286G>A	16.37:g.57503104G>A	ENSP00000219252:p.Glu96Lys					POLR2C_ENST00000564651.1_3'UTR	p.E96K	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			5	624	+			96			Cys-rich.		O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.286G>A	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742521	0.69418	.	.	ENSG00000102978	ENST00000219252	.	.	.	5.77	4.82	0.62117	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, insert domain (3);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.101703	0.64402	D	0.000002	T	0.43656	0.1257	L	0.39633	1.23	0.80722	D	1	B;B	0.26708	0.047;0.157	B;B	0.21360	0.011;0.034	T	0.28808	-1.0032	9	0.08599	T	0.76	.	12.2479	0.54581	0.0778:0.0:0.9222:0.0	.	96;96	B7Z377;P19387	.;RPB3_HUMAN	K	96	.	ENSP00000219252:E96K	E	+	1	0	POLR2C	56060605	1.000000	0.71417	0.887000	0.34795	0.693000	0.40251	9.792000	0.99085	1.457000	0.47850	-0.141000	0.14075	GAG		0.572	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		38	48	0	0	0	1	0	38	48				
TRERF1	55809	broad.mit.edu	37	6	42236363	42236363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42236363C>A	ENST00000372922.4	-	5	1528	c.966G>T	c.(964-966)caG>caT	p.Q322H	TRERF1_ENST00000354325.2_Missense_Mutation_p.Q322H|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q322H|TRERF1_ENST00000541110.1_Missense_Mutation_p.Q322H|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q322H	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	322	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTGAGGTATCTGCATTGAAC	0.587																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(964-966)caG>caT		transcriptional regulating factor 1							69.0	69.0	69.0					6																	42236363		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236363C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.966G>T	6.37:g.42236363C>A	ENSP00000362013:p.Gln322His					TRERF1_ENST00000372917.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q322H|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q322H	p.Q322H			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1534	-	Colorectal(47;0.196)		322			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.966G>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981286	0.34942	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.16196	2.75;2.36;2.66;2.36;2.37	5.79	4.91	0.64330	.	0.000000	0.56097	D	0.000032	T	0.16642	0.0400	L	0.32530	0.975	0.29202	N	0.875148	D;D;D;D;D	0.71674	0.998;0.996;0.996;0.998;0.998	D;D;D;D;D	0.72075	0.976;0.947;0.947;0.976;0.976	T	0.01977	-1.1236	10	0.56958	D	0.05	-16.279	9.5525	0.39319	0.0:0.7904:0.0:0.2096	.	322;322;322;161;161	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	H	322	ENSP00000439689:Q322H;ENSP00000362008:Q322H;ENSP00000362013:Q322H;ENSP00000339438:Q322H;ENSP00000346285:Q322H	ENSP00000339438:Q322H	Q	-	3	2	TRERF1	42344341	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.589000	0.23939	2.735000	0.93741	0.561000	0.74099	CAG		0.587	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		5	73	1	0	1.23904e-05	1	1.39987e-05	5	73				
DLC1	10395	broad.mit.edu	37	8	13357024	13357024	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13357024G>T	ENST00000276297.4	-	2	966	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	DLC1_ENST00000316609.5_Missense_Mutation_p.S186Y|DLC1_ENST00000511869.1_Missense_Mutation_p.S186Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	186					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTACTTATAGAGTCAGTAAC	0.363																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(556-558)tCt>tAt		deleted in liver cancer 1							117.0	122.0	120.0					8																	13357024		2203	4299	6502	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357024G>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.557C>A	8.37:g.13357024G>T	ENSP00000276297:p.Ser186Tyr					DLC1_ENST00000316609.5_Missense_Mutation_p.S186Y|DLC1_ENST00000511869.1_Missense_Mutation_p.S186Y	p.S186Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	966	-			186					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.557C>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	2.334	-0.352689	0.05173	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.30714	1.52;1.52;1.52	5.03	0.899	0.19271	.	1.307530	0.05287	N	0.520322	T	0.23572	0.0570	N	0.14661	0.345	0.09310	N	1	P;P;B	0.36315	0.547;0.547;0.412	B;B;B	0.44224	0.444;0.179;0.054	T	0.33007	-0.9885	10	0.27082	T	0.32	.	5.8903	0.18909	0.3518:0.2446:0.4036:0.0	.	186;186;186	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Y	186	ENSP00000276297:S186Y;ENSP00000321034:S186Y;ENSP00000425878:S186Y	ENSP00000276297:S186Y	S	-	2	0	DLC1	13401395	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.822000	0.27352	0.043000	0.15746	-0.137000	0.14449	TCT		0.363	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		56	93	1	0	4.58403e-41	1	6.18418e-41	56	93				
PRRX1	5396	broad.mit.edu	37	1	170695481	170695481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170695481G>A	ENST00000239461.6	+	3	851	c.538G>A	c.(538-540)Gta>Ata	p.V180I	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.V180I|PRRX1_ENST00000367760.3_Missense_Mutation_p.V180I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	180					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.V180I(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGCCCATCGTACCTCGTCC	0.562																																						ENST00000239461.6																			1	Substitution - Missense(1)	p.V180I(1)	ovary(1)	large_intestine(2)|ovary(1)	3						c.(538-540)Gta>Ata		paired related homeobox 1							108.0	96.0	100.0					1																	170695481		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170695481G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.538G>A	1.37:g.170695481G>A	ENSP00000239461:p.Val180Ile					PRRX1_ENST00000367760.3_Missense_Mutation_p.V180I|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.V180I	p.V180I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			3	851	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		180					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.538G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607788	0.66558	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.91464	-2.81;-2.85;-2.77;-1.2	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91392	0.7284	L	0.60455	1.87	0.50171	D	0.999858	D;D	0.55605	0.968;0.972	P;P	0.56343	0.796;0.467	D	0.90050	0.4148	10	0.36615	T	0.2	.	17.7361	0.88394	0.0:0.0:1.0:0.0	.	180;180	P54821;P54821-2	PRRX1_HUMAN;.	I	180;180;180;25;25	ENSP00000356734:V180I;ENSP00000239461:V180I;ENSP00000450762:V180I;ENSP00000451225:V25I	ENSP00000239461:V180I	V	+	1	0	PRRX1	168962105	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	9.214000	0.95140	2.533000	0.85409	0.650000	0.86243	GTA		0.562	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		20	42	0	0	0	1	0	20	42				
MYO1F	4542	broad.mit.edu	37	19	8619587	8619587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8619587T>C	ENST00000338257.8	-	3	449	c.182A>G	c.(181-183)aAg>aGg	p.K61R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	61	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCATCTGCTTGAAGGGGTT	0.607																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(181-183)aAg>aGg		myosin IF							146.0	142.0	143.0					19																	8619587		2045	4183	6228	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8619587T>C	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.182A>G	19.37:g.8619587T>C	ENSP00000344871:p.Lys61Arg						p.K61R	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			3	449	-			61			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.182A>G	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964073	0.74131	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.88124	-2.34	4.68	4.68	0.58851	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	M	0.72624	2.21	0.80722	D	1	P;D;D	0.89917	0.53;1.0;1.0	B;D;D	0.85130	0.38;0.995;0.997	D	0.88354	0.2983	10	0.08179	T	0.78	.	12.0897	0.53719	0.0:0.0:0.0:1.0	.	61;61;61	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	R	106;61	ENSP00000344871:K61R	ENSP00000304899:K106R	K	-	2	0	MYO1F	8525587	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.967000	0.87967	1.757000	0.51966	0.374000	0.22700	AAG		0.607	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			6	73	0	0	0	1	0	6	73				
CDHR5	53841	broad.mit.edu	37	11	621608	621608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:621608C>T	ENST00000358353.3	-	6	783	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CDHR5_ENST00000349570.7_Missense_Mutation_p.R154H|CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.R154H			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	154	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCCTTGTCGCGGTCCTCAGC	0.637																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(460-462)cGc>cAc		cadherin-related family member 5							158.0	124.0	136.0					11																	621608		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621608C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.461G>A	11.37:g.621608C>T	ENSP00000351118:p.Arg154His					CDHR5_ENST00000349570.7_Missense_Mutation_p.R154H|CDHR5_ENST00000397542.2_Missense_Mutation_p.R154H	p.R154H			Q9HBB8	CDHR5_HUMAN			6	783	-			154			Cadherin 2.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.461G>A	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	c	6.074	0.381933	0.11524	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570;ENST00000526077;ENST00000534311	T;T;T;T;T	0.46451	1.11;1.11;1.11;0.87;0.89	3.91	-7.81	0.01210	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.23094	0.0558	L	0.38175	1.15	0.09310	N	1	B;P;P;P	0.47350	0.167;0.894;0.826;0.894	B;B;B;B	0.38562	0.058;0.276;0.188;0.276	T	0.40459	-0.9562	9	0.44086	T	0.13	.	3.7089	0.08411	0.1339:0.0781:0.2841:0.5039	.	154;154;154;154	Q58EZ6;Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;.;CDHR5_HUMAN	H	154;154;154;154;123;131	ENSP00000380676:R154H;ENSP00000351118:R154H;ENSP00000345726:R154H;ENSP00000435082:R123H;ENSP00000436295:R131H	ENSP00000326527:R154H	R	-	2	0	CDHR5	611608	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.424000	0.00036	-5.272000	0.00018	-1.981000	0.00455	CGC		0.637	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		29	47	0	0	0	1	0	29	47				
NEURL1	9148	broad.mit.edu	37	10	105349997	105349997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105349997G>A	ENST00000369780.4	+	6	2002	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.T514T	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		531					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGGTGGACACGGTCATCTACA	0.637																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1591-1593)acG>acA									138.0	108.0	118.0					10																	105349997		2203	4300	6503	SO:0001819	synonymous_variant	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105349997G>A																												ENST00000369780.4:c.1593G>A	10.37:g.105349997G>A						SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.T514T	p.T531T	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	2002	+			531					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.1593G>A	CCDS7551.1																																																																																				0.637	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			23	42	0	0	0	1	0	23	42				
TAS2R38	5726	broad.mit.edu	37	7	141673327	141673327	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141673327A>G	ENST00000547270.1	-	1	246	c.163T>C	c.(163-165)Tgt>Cgt	p.C55R		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	55					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCAGCACACAATCACTGTTG	0.498																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(163-165)Tgt>Cgt		taste receptor, type 2, member 38							109.0	102.0	105.0					7																	141673327		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673327A>G	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.163T>C	7.37:g.141673327A>G	ENSP00000448219:p.Cys55Arg						p.C55R	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	246	-	Melanoma(164;0.0171)		55					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.163T>C	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	A	5.415	0.261785	0.10239	.	.	ENSG00000257138	ENST00000547270	T	0.36340	1.26	5.1	2.04	0.26737	.	0.994369	0.08157	N	0.989094	T	0.13670	0.0331	N	0.02011	-0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23619	-1.0183	10	0.30078	T	0.28	.	4.4324	0.11535	0.1934:0.0:0.6233:0.1833	.	55	P59533	T2R38_HUMAN	R	55	ENSP00000448219:C55R	ENSP00000331291:C55R	C	-	1	0	TAS2R38	141319796	0.000000	0.05858	0.045000	0.18777	0.276000	0.26787	-0.093000	0.11111	0.678000	0.31325	-0.177000	0.13119	TGT		0.498	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		4	86	0	0	0	1	0	4	86				
SAP130	79595	broad.mit.edu	37	2	128767870	128767870	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128767870G>A	ENST00000259235.3	-	7	1049	c.920C>T	c.(919-921)gCg>gTg	p.A307V	SAP130_ENST00000259234.6_Missense_Mutation_p.A281V|SAP130_ENST00000357702.5_Missense_Mutation_p.A307V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	307					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCATGCGCCGCTGTCGTAGT	0.517																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(919-921)gCg>gTg		Sin3A-associated protein, 130kDa							126.0	109.0	115.0					2																	128767870		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128767870G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.920C>T	2.37:g.128767870G>A	ENSP00000259235:p.Ala307Val					SAP130_ENST00000259235.3_Missense_Mutation_p.A307V|SAP130_ENST00000259234.6_Missense_Mutation_p.A281V	p.A307V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	7	1051	-	Colorectal(110;0.1)		307					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.920C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873731	0.51695	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	5.56	0.83823	.	0.107594	0.64402	D	0.000005	T	0.22589	0.0545	N	0.08118	0	0.51767	D	0.999934	P;B;B	0.47545	0.897;0.03;0.03	B;B;B	0.31290	0.127;0.006;0.003	T	0.30090	-0.9990	9	0.06236	T	0.91	-21.7418	19.5311	0.95230	0.0:0.0:1.0:0.0	.	307;281;307	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	V	307;307;281	.	ENSP00000259234:A281V	A	-	2	0	SAP130	128484340	1.000000	0.71417	0.854000	0.33618	0.782000	0.44232	4.879000	0.63100	2.635000	0.89317	0.467000	0.42956	GCG		0.517	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		8	26	0	0	0	1	0	8	26				
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324243G>A	ENST00000428797.2	+	11	1541	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_ENST00000420560.1_Missense_Mutation_p.E396K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E396K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E396K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E396K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E396K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	396					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGCAACCATAGAACCTAAAGA	0.478																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1186-1188)Gaa>Aaa		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						137.0	138.0	137.0					5																	161324243		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324243G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1186G>A	5.37:g.161324243G>A	ENSP00000393097:p.Glu396Lys					GABRA1_ENST00000420560.1_Missense_Mutation_p.E396K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E396K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E396K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E396K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E396K	p.E396K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1541	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	396					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1186G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601061	0.46423	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.446062	0.26086	N	0.026424	T	0.69788	0.3150	N	0.19112	0.55	0.50632	D	0.999888	B	0.26602	0.154	B	0.31101	0.124	T	0.65047	-0.6263	10	0.07175	T	0.84	.	19.3564	0.94416	0.0:0.0:1.0:0.0	.	396	P14867	GBRA1_HUMAN	K	396	ENSP00000023897:E396K;ENSP00000393097:E396K;ENSP00000377517:E396K;ENSP00000415441:E396K;ENSP00000408041:E396K;ENSP00000414232:E396K	ENSP00000023897:E396K	E	+	1	0	GABRA1	161256821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.343000	0.65976	2.642000	0.89623	0.563000	0.77884	GAA		0.478	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		41	53	0	0	0	1	0	41	53				
SAG	6295	broad.mit.edu	37	2	234235800	234235800	+	Missense_Mutation	SNP	G	G	A	rs201283305		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234235800G>A	ENST00000409110.1	+	7	699	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_ENST00000449594.2_Missense_Mutation_p.A23T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	157					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20140	0.001		0.0	False		,,,				2504	0.0					ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(469-471)Gcc>Acc		S-antigen; retina and pineal gland (arrestin)		G	THR/ALA	0,4158		0,0,2079	119.0	121.0	120.0		469	4.0	0.1	2		120	1,8433		0,1,4216	yes	missense	SAG	NM_000541.4	58	0,1,6295	AA,AG,GG		0.0119,0.0,0.0079	benign	157/406	234235800	1,12591	2079	4217	6296	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234235800G>A		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.469G>A	2.37:g.234235800G>A	ENSP00000386444:p.Ala157Thr					SAG_ENST00000449594.2_Missense_Mutation_p.A23T	p.A157T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	7	699	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	157					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.469G>A	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802254	0.31869	0.0	1.19E-4	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110;ENST00000449594	T;T;T	0.17213	2.56;2.56;2.29	3.96	3.96	0.45880	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.327480	0.36409	N	0.002601	T	0.16085	0.0387	L	0.38531	1.155	0.20821	N	0.999849	D;D	0.60575	0.986;0.988	B;P	0.45577	0.329;0.486	T	0.08973	-1.0696	10	0.46703	T	0.11	-30.7478	11.0952	0.48141	0.0:0.0:0.8017:0.1983	.	23;157	B7Z7L5;P10523	.;ARRS_HUMAN	T	157;157;157;23	ENSP00000408937:A157T;ENSP00000386444:A157T;ENSP00000392889:A23T	ENSP00000252857:A157T	A	+	1	0	SAG	233900539	0.983000	0.35010	0.070000	0.20053	0.076000	0.17211	1.982000	0.40638	2.204000	0.70986	0.555000	0.69702	GCC		0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		32	52	0	0	0	1	0	32	52				
RP11-156P1.2	0	broad.mit.edu	37	17	45127159	45127159	+	IGR	SNP	G	G	A	rs550040553	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45127159G>A	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCAAGGGCGCGCCTTCTACCT	0.522													g|||	2	0.000399361	0.0	0.0	5008	,	,		23234	0.002		0.0	False		,,,				2504	0.0					ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127159G>A																													17.37:g.45127159G>A														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.522	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			6	54	0	0	0	1	0	6	54				
TCL6	27004	broad.mit.edu	37	14	96134556	96134556	+	RNA	SNP	G	G	A	rs370760519		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96134556G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGGCTCGGACGAAGTGTTTCC	0.473			T	TRA@	T-ALL																																	ENST00000467865.1				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0				large_intestine(1)|lung(7)	8										G		0,4406		0,0,2203	181.0	157.0	165.0			-1.2	0.0	14		165	2,8598	2.2+/-6.3	0,2,4298	no	intergenic				0,2,6501	AA,AG,GG		0.0233,0.0,0.0154			96134556	2,13004	2203	4300	6503			0							g.chr14:96134556G>A	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96134556G>A						RP11-1070N10.6_ENST00000461160.1_RNA							Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	0	1821	+		all_cancers(154;0.103)							RNA	SNP	ENST00000467865.1	37																																																																																						0.473	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		36	51	0	0	0	1	0	36	51				
ATMIN	23300	broad.mit.edu	37	16	81077072	81077072	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81077072C>A	ENST00000299575.4	+	4	993	c.969C>A	c.(967-969)tcC>tcA	p.S323S	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Silent_p.S167S|ATMIN_ENST00000564241.1_Silent_p.S167S	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	323	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAGCCGACTCCTCAGCCCAGC	0.517																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(499-501)tcC>tcA		ATM interactor							70.0	74.0	72.0					16																	81077072		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077072C>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.969C>A	16.37:g.81077072C>A						ATMIN_ENST00000299575.4_Silent_p.S323S|ATMIN_ENST00000564241.1_Silent_p.S167S|ATMIN_ENST00000539819.1_3'UTR	p.S167S			O43313	ATMIN_HUMAN			3	1464	+			323					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.501C>A	CCDS32494.1																																																																																				0.517	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		31	58	1	0	4.11147e-13	1	5.20562e-13	31	58				
BMPER	168667	broad.mit.edu	37	7	34125702	34125702	+	Silent	SNP	C	C	T	rs373141339		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34125702C>T	ENST00000297161.2	+	14	2117	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y	BMPER_ENST00000426693.1_Silent_p.Y581Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	581					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCACTTTCTACCGGTAAGTAC	0.483																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1741-1743)taC>taT		BMP binding endothelial regulator		C		0,4406		0,0,2203	54.0	55.0	55.0		1743	1.5	1.0	7		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMPER	NM_133468.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		581/686	34125702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125702C>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1743C>T	7.37:g.34125702C>T						BMPER_ENST00000426693.1_Silent_p.Y581Y	p.Y581Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			14	2117	+			581					A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1743C>T	CCDS5442.1																																																																																				0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		16	38	0	0	0	1	0	16	38				
ELOVL6	79071	broad.mit.edu	37	4	110972809	110972809	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110972809G>A	ENST00000394607.3	-	5	646	c.483C>T	c.(481-483)gcC>gcT	p.A161A	ELOVL6_ENST00000302274.3_Silent_p.A161A			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	161					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AACCTCCCCCGGCAACCATGT	0.507																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(481-483)gcC>gcT		ELOVL fatty acid elongase 6							62.0	56.0	58.0					4																	110972809		2203	4300	6503	SO:0001819	synonymous_variant	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972809G>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.483C>T	4.37:g.110972809G>A						ELOVL6_ENST00000302274.3_Silent_p.A161A	p.A161A			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	646	-			161					Q4W5L0|Q8NCD1	Silent	SNP	ENST00000394607.3	37	c.483C>T	CCDS3690.1																																																																																				0.507	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		3	35	0	0	0	1	0	3	35				
GBAP1	2630	broad.mit.edu	37	1	155188193	155188193	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155188193C>T	ENST00000486869.1	-	0	173					NR_002188.2				glucosidase, beta, acid pseudogene 1																		CTGATGCCCACGACACTGCCT	0.542																																						ENST00000486869.1																			0																																																			0							g.chr1:155188193C>T	J03060		1q22	2012-11-19	2010-01-19	2010-01-19	ENSG00000160766	ENSG00000160766			4178	pseudogene	pseudogene			"""glucosidase, beta; acid, pseudogene"""	GBAP			Standard	NR_002188		Approved		uc001fjd.3		OTTHUMG00000176393		1.37:g.155188193C>T								NR_002188.2						0	173	-									RNA	SNP	ENST00000486869.1	37																																																																																						0.542	GBAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000087219.2	NR_002188.2		13	148	0	0	0	1	0	13	148				
TMPRSS7	344805	broad.mit.edu	37	3	111766665	111766665	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111766665G>A	ENST00000452346.2	+	7	813	c.810G>A	c.(808-810)agG>agA	p.R270R	TMPRSS7_ENST00000419127.1_Silent_p.R144R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	270	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTCAGGGAGGCTGATGTGTC	0.517																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(808-810)agG>agA		transmembrane protease, serine 7							86.0	85.0	85.0					3																	111766665		1990	4162	6152	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111766665G>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.810G>A	3.37:g.111766665G>A						TMPRSS7_ENST00000419127.1_Silent_p.R144R	p.R270R			Q7RTY8	TMPS7_HUMAN			7	813	+			270			CUB 1.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.810G>A																																																																																					0.517	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		16	22	0	0	0	1	0	16	22				
TRIP11	9321	broad.mit.edu	37	14	92436087	92436087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92436087G>A	ENST00000267622.4	-	21	6243	c.5870C>T	c.(5869-5871)aCa>aTa	p.T1957I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1957					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AGGTGTAAATGTGGGCAAAAC	0.502			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(5869-5871)aCa>aTa		thyroid hormone receptor interactor 11							78.0	81.0	80.0					14																	92436087		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92436087G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5870C>T	14.37:g.92436087G>A	ENSP00000267622:p.Thr1957Ile						p.T1957I	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	21	6243	-			1957					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.5870C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546292	0.86022	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.11385	2.78	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05022	-1.0911	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	1693;1957	F5H1Z0;Q15643	.;TRIPB_HUMAN	I	1957;1693	ENSP00000267622:T1957I	ENSP00000267622:T1957I	T	-	2	0	TRIP11	91505840	1.000000	0.71417	0.957000	0.39632	0.716000	0.41182	6.029000	0.70895	2.724000	0.93272	0.563000	0.77884	ACA		0.502	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	73	0	0	0	1	0	5	73				
PPIP5K1	9677	broad.mit.edu	37	15	43851062	43851062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43851062G>A	ENST00000396923.3	-	28	3437	c.3316C>T	c.(3316-3318)Cgt>Tgt	p.R1106C	PPIP5K1_ENST00000360135.4_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.R1102C|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.R1106C|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.R1082C|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.R1081C			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1106					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						CTCACTTGACGTAGGGAAAGG	0.473																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(3316-3318)Cgt>Tgt		diphosphoinositol pentakisphosphate kinase 1							153.0	132.0	139.0					15																	43851062		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43851062G>A	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3316C>T	15.37:g.43851062G>A	ENSP00000380129:p.Arg1106Cys					PPIP5K1_ENST00000396923.3_Missense_Mutation_p.R1106C|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.R1102C|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.R1082C	p.R1106C	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			29	3498	-			1106					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3316C>T	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699935	0.68501	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.31510	1.6;1.49;2.26;1.49;1.6;1.6;1.59;2.26	6.06	5.14	0.70334	.	0.196882	0.45126	D	0.000396	T	0.48822	0.1521	L	0.61218	1.895	0.22968	N	0.998499	D;D;D;D	0.67145	0.972;0.986;0.992;0.996	P;P;P;P	0.60886	0.597;0.677;0.828;0.88	T	0.46484	-0.9188	10	0.87932	D	0	-5.6717	13.5203	0.61563	0.0:0.0:0.716:0.284	.	1039;1106;1103;1081	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	C	1102;1081;1039;1081;1106;1106;1081;1106;1082;1039;1002	ENSP00000371309:R1102C;ENSP00000353446:R1081C;ENSP00000353253:R1039C;ENSP00000334779:R1081C;ENSP00000380129:R1106C;ENSP00000400887:R1106C;ENSP00000371303:R1082C;ENSP00000308773:R1039C	ENSP00000304750:R1106C	R	-	1	0	PPIP5K1	41638354	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.832000	0.75329	1.555000	0.49500	0.655000	0.94253	CGT		0.473	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		41	43	0	0	0	1	0	41	43				
ANGPTL4	51129	broad.mit.edu	37	19	8430878	8430878	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8430878T>C	ENST00000301455.2	+	2	530	c.359T>C	c.(358-360)tTc>tCc	p.F120S	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.F120S	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	120					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGCAACTCTTCCACAAGGTG	0.552																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(358-360)tTc>tCc		angiopoietin-like 4							76.0	71.0	72.0					19																	8430878		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8430878T>C	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.359T>C	19.37:g.8430878T>C	ENSP00000301455:p.Phe120Ser					ANGPTL4_ENST00000393962.2_Missense_Mutation_p.F120S|ANGPTL4_ENST00000541807.1_5'UTR	p.F120S	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			2	530	+			120					A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.359T>C	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159526	0.38119	.	.	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.39406	1.08;1.08	4.81	2.69	0.31865	.	1.200650	0.06198	U	0.682669	T	0.28599	0.0708	N	0.19112	0.55	0.58432	D	0.999992	B;B	0.17038	0.02;0.007	B;B	0.15484	0.013;0.008	T	0.08432	-1.0722	10	0.33141	T	0.24	.	6.533	0.22338	0.0:0.2036:0.0:0.7964	.	120;120	A8MY84;Q9BY76	.;ANGL4_HUMAN	S	120	ENSP00000301455:F120S;ENSP00000377534:F120S	ENSP00000301455:F120S	F	+	2	0	ANGPTL4	8336878	0.273000	0.24181	0.660000	0.29694	0.983000	0.72400	1.093000	0.30939	0.694000	0.31654	0.533000	0.62120	TTC		0.552	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		16	17	0	0	0	1	0	16	17				
FBXO46	23403	broad.mit.edu	37	19	46215959	46215959	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215959G>A	ENST00000317683.3	-	2	928	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	265										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCGTTGGAGATGCGGAAGG	0.731																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(793-795)atC>atT		F-box protein 46							23.0	26.0	25.0					19																	46215959		1933	4110	6043	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215959G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.795C>T	19.37:g.46215959G>A							p.I265I	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	928	-		Ovarian(192;0.179)|all_neural(266;0.224)	265						Silent	SNP	ENST00000317683.3	37	c.795C>T	CCDS46116.1																																																																																				0.731	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		3	18	0	0	0	1	0	3	18				
ARMC4	55130	broad.mit.edu	37	10	28260120	28260120	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28260120C>A	ENST00000305242.5	-	8	1151	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000239715.3_Missense_Mutation_p.K210N|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.K45N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	353					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAATTTGGTTCTTCTCCAGTG	0.423																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1057-1059)aaG>aaT		armadillo repeat containing 4							100.0	100.0	100.0					10																	28260120		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28260120C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1059G>T	10.37:g.28260120C>A	ENSP00000306410:p.Lys353Asn					ARMC4_ENST00000537576.1_Missense_Mutation_p.K45N|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K210N	p.K353N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			8	1151	-			353					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1059G>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830596	0.16820	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.54071	1.95;1.31;0.61;0.59	2.98	0.0145	0.14100	.	0.531595	0.18312	N	0.145079	T	0.49287	0.1548	M	0.74881	2.28	0.09310	N	0.999999	P	0.44627	0.839	P	0.44394	0.448	T	0.46190	-0.9209	10	0.66056	D	0.02	-2.0892	3.5317	0.07779	0.0:0.5377:0.2113:0.251	.	353	Q5T2S8	ARMC4_HUMAN	N	45;353;45;247;210	ENSP00000443208:K45N;ENSP00000306410:K353N;ENSP00000398155:K247N;ENSP00000239715:K210N	ENSP00000239715:K210N	K	-	3	2	ARMC4	28300126	0.722000	0.28017	0.023000	0.16930	0.099000	0.18886	0.460000	0.21924	0.007000	0.14760	-0.801000	0.03215	AAG		0.423	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		31	62	1	0	1.80694e-10	1	2.22694e-10	31	62				
ARL14EP	120534	broad.mit.edu	37	11	30354443	30354443	+	Nonsense_Mutation	SNP	C	C	T	rs541639979		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30354443C>T	ENST00000282032.3	+	3	672	c.457C>T	c.(457-459)Caa>Taa	p.Q153*	ARL14EP_ENST00000533457.1_3'UTR	NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	153						cytoplasm (GO:0005737)											GAGGTCATTACAATTTACGAA	0.353																																						ENST00000282032.3																			0											c.(457-459)Caa>Taa		ADP-ribosylation factor-like 14 effector protein							77.0	76.0	76.0					11																	30354443		2202	4299	6501	SO:0001587	stop_gained	120534							g.chr11:30354443C>T	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.457C>T	11.37:g.30354443C>T	ENSP00000282032:p.Gln153*					ARL14EP_ENST00000533457.1_3'UTR	p.Q153*	NM_152316.1	NP_689529.1					3	672	+								Q5HYH9	Nonsense_Mutation	SNP	ENST00000282032.3	37	c.457C>T	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	C	56	25.151869	0.99964	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	.	.	.	5.38	5.38	0.77491	.	0.263153	0.38058	N	0.001829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-23.8124	19.4956	0.95070	0.0:1.0:0.0:0.0	.	.	.	.	X	153	.	ENSP00000282032:Q153X	Q	+	1	0	C11orf46	30311019	0.999000	0.42202	0.820000	0.32676	0.940000	0.58332	5.010000	0.64004	2.693000	0.91896	0.655000	0.94253	CAA		0.353	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		5	60	0	0	0	1	0	5	60				
RAB11FIP3	9727	broad.mit.edu	37	16	570584	570584	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:570584C>T	ENST00000262305.4	+	13	2530	c.2142C>T	c.(2140-2142)tcC>tcT	p.S714S	RAB11FIP3_ENST00000457159.1_Silent_p.S759S|RAB11FIP3_ENST00000450428.1_Silent_p.S418S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	714	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGATCAGCTCCGTCTCCCGAG	0.597																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(2140-2142)tcC>tcT		RAB11 family interacting protein 3 (class II)							142.0	131.0	135.0					16																	570584		2201	4300	6501	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:570584C>T	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.2142C>T	16.37:g.570584C>T						RAB11FIP3_ENST00000450428.1_Silent_p.S418S|RAB11FIP3_ENST00000457159.1_Silent_p.S759S	p.S714S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			13	2530	+		Hepatocellular(16;0.0218)	714			FIP-RBD.		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.2142C>T	CCDS32351.1																																																																																				0.597	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		50	56	0	0	0	1	0	50	56				
AFF3	3899	broad.mit.edu	37	2	100210419	100210419	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210419G>T	ENST00000409236.2	-	13	1816	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	AFF3_ENST00000356421.2_Silent_p.P593P|AFF3_ENST00000409579.1_Silent_p.P593P|AFF3_ENST00000317233.4_Silent_p.P568P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	568					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCGCACAGGGCACTGCGG	0.751																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1702-1704)ccC>ccA		AF4/FMR2 family, member 3							13.0	16.0	15.0					2																	100210419		2073	3922	5995	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210419G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1704C>A	2.37:g.100210419G>T						AFF3_ENST00000409236.1_Silent_p.P568P|AFF3_ENST00000409579.1_Silent_p.P593P|AFF3_ENST00000356421.2_Silent_p.P593P	p.P568P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1939	-			568					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1704C>A	CCDS42723.1																																																																																				0.751	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		5	29	1	0	1.23904e-05	1	1.39987e-05	5	29				
SLMO2	51012	broad.mit.edu	37	20	57610078	57610078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57610078G>A	ENST00000355937.4	-	6	747	c.569C>T	c.(568-570)gCg>gTg	p.A190V	ATP5E_ENST00000395659.1_5'Flank|ATP5E_ENST00000243997.3_5'Flank|ATP5E_ENST00000395663.1_5'Flank|SLMO2_ENST00000371033.5_Missense_Mutation_p.A160V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	190					phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CTCTGCAAACGCTGCTGCTGC	0.403																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(568-570)gCg>gTg		slowmo homolog 2 (Drosophila)							64.0	60.0	61.0					20																	57610078		1942	4153	6095	SO:0001583	missense	51012							g.chr20:57610078G>A	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.569C>T	20.37:g.57610078G>A	ENSP00000348206:p.Ala190Val					SLMO2_ENST00000371033.5_Missense_Mutation_p.A160V	p.A190V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		6	747	-	all_lung(29;0.00711)		190					E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	c.569C>T	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567740	0.65651	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T	0.19806	2.12	5.42	5.42	0.78866	.	0.265791	0.42821	N	0.000652	T	0.24275	0.0588	N	0.02736	-0.51	0.45822	D	0.998695	B;D	0.89917	0.006;1.0	B;D	0.67103	0.001;0.949	T	0.49082	-0.8976	10	0.62326	D	0.03	-10.5449	18.542	0.91031	0.0:0.0:1.0:0.0	.	160;190	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	V	190;160	ENSP00000348206:A190V	ENSP00000348206:A190V	A	-	2	0	SLMO2	57043473	1.000000	0.71417	0.921000	0.36526	0.502000	0.33828	6.780000	0.75063	2.696000	0.92011	0.650000	0.86243	GCG		0.403	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		14	19	0	0	0	1	0	14	19				
DUOX2	50506	broad.mit.edu	37	15	45399573	45399573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45399573G>T	ENST00000603300.1	-	14	1865	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	DUOX2_ENST00000389039.6_Missense_Mutation_p.L555M	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	555	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGGGCTGCAGGGCACTGGGG	0.537																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1663-1665)Ctg>Atg		dual oxidase 2							149.0	131.0	137.0					15																	45399573		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45399573G>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1663C>A	15.37:g.45399573G>T	ENSP00000475084:p.Leu555Met					DUOX2_ENST00000603300.1_Missense_Mutation_p.L555M	p.L555M			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	14	2048	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	555			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1663C>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158717	0.38119	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.5	3.23	0.37069	.	0.167176	0.38548	N	0.001644	T	0.58538	0.2129	L	0.53617	1.68	0.44275	D	0.997137	P;P	0.42961	0.607;0.795	P;P	0.52957	0.61;0.714	T	0.53158	-0.8478	9	0.34782	T	0.22	-12.9509	4.7792	0.13194	0.21:0.0:0.6316:0.1584	.	555;117	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	M	555	.	ENSP00000373691:L555M	L	-	1	2	DUOX2	43186865	0.040000	0.19996	0.512000	0.27736	0.327000	0.28475	0.144000	0.16135	0.453000	0.26858	0.655000	0.94253	CTG		0.537	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		6	105	1	0	3.59834e-05	1	4.01776e-05	6	105				
RP1L1	94137	broad.mit.edu	37	8	10480458	10480458	+	Missense_Mutation	SNP	C	C	T	rs371272609		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10480458C>T	ENST00000382483.3	-	2	477	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	85	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATGCAGGCCCCGGGGTGTGGT	0.652													c|||	1	0.000199681	0.0	0.0	5008	,	,		16672	0.0		0.0	False		,,,				2504	0.001					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(253-255)cGg>cAg		retinitis pigmentosa 1-like 1			GLN/ARG	0,4076		0,0,2038	23.0	28.0	27.0		254	2.8	1.0	8		27	1,8365		0,1,4182	no	missense	RP1L1	NM_178857.5	43	0,1,6220	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	85/2401	10480458	1,12441	2038	4183	6221	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480458C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.254G>A	8.37:g.10480458C>T	ENSP00000371923:p.Arg85Gln					RP1L1_ENST00000329335.3_5'UTR	p.R85Q	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	477	-			85					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.254G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	18.91	3.723839	0.68959	0.0	1.2E-4	ENSG00000183638	ENST00000382483	D	0.92397	-3.03	4.74	2.76	0.32466	.	.	.	.	.	D	0.91425	0.7294	L	0.51422	1.61	0.35419	D	0.793061	D	0.56287	0.975	P	0.51297	0.665	D	0.93204	0.6594	9	0.72032	D	0.01	-20.2679	11.1116	0.48237	0.0:0.8274:0.0:0.1726	.	85	A6NKC6	.	Q	85	ENSP00000371923:R85Q	ENSP00000371923:R85Q	R	-	2	0	RP1L1	10517868	0.402000	0.25311	0.997000	0.53966	0.877000	0.50540	1.860000	0.39428	1.230000	0.43646	0.550000	0.68814	CGG		0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			10	18	0	0	0	1	0	10	18				
OBSCN	84033	broad.mit.edu	37	1	228509327	228509327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509327G>A	ENST00000422127.1	+	55	14829	c.14785G>A	c.(14785-14787)Gcc>Acc	p.A4929T	OBSCN_ENST00000366707.4_Missense_Mutation_p.A2563T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4929T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2048T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5886T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4929	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGTGCGAGCCCGCTGGCT	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17656-17658)Gcc>Acc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							37.0	42.0	40.0					1																	228509327		2181	4274	6455	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509327G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14785G>A	1.37:g.228509327G>A	ENSP00000409493:p.Ala4929Thr					OBSCN_ENST00000366707.4_Missense_Mutation_p.A2563T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2048T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4929T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4929T	p.A5886T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			66	17730	+		Prostate(94;0.0405)	4929					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17656G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215012	0.39102	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.34	3.12	0.35913	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315190	0.27336	N	0.019822	T	0.51381	0.1671	N	0.25426	0.745	0.09310	N	1	B;B	0.21071	0.051;0.041	B;B	0.19946	0.027;0.016	T	0.49652	-0.8917	10	0.52906	T	0.07	.	10.3577	0.43974	0.235:0.0:0.765:0.0	.	4929;4929	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4929;4929;2563;2048	ENSP00000284548:A4929T;ENSP00000409493:A4929T;ENSP00000355668:A2563T;ENSP00000355670:A2048T	ENSP00000284548:A4929T	A	+	1	0	OBSCN	226575950	1.000000	0.71417	0.088000	0.20740	0.168000	0.22595	4.490000	0.60319	1.269000	0.44280	-0.136000	0.14681	GCC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		18	21	0	0	0	1	0	18	21				
RFX6	222546	broad.mit.edu	37	6	117246731	117246731	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246731C>A	ENST00000332958.2	+	16	1810	c.1794C>A	c.(1792-1794)acC>acA	p.T598T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	598					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGAGACAACCTATCTCCCTC	0.542																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1792-1794)acC>acA		regulatory factor X, 6							109.0	101.0	103.0					6																	117246731		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117246731C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1794C>A	6.37:g.117246731C>A							p.T598T	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			16	1810	+			598					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.1794C>A	CCDS5113.1																																																																																				0.542	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		38	41	1	0	1.36161e-19	1	1.78291e-19	38	41				
PLEKHM1	9842	broad.mit.edu	37	17	43531164	43531164	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531164A>G	ENST00000430334.3	-	7	2187	c.2054T>C	c.(2053-2055)aTc>aCc	p.I685T	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.I596T	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	685	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGACTCCTTGATGGCATCTGG	0.567																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2053-2055)aTc>aCc		pleckstrin homology domain containing, family M (with RUN domain) member 1							53.0	55.0	55.0					17																	43531164		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531164A>G	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2054T>C	17.37:g.43531164A>G	ENSP00000389913:p.Ile685Thr					AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.I596T	p.I685T	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			7	2187	-	Renal(3;0.0405)		685			PH 2.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2054T>C	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973701	0.53720	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.66280	-0.2;-0.2	4.91	4.91	0.64330	Pleckstrin homology domain (1);	0.121832	0.53938	D	0.000050	T	0.67031	0.2850	L	0.27053	0.805	0.46774	D	0.999192	D;D;D	0.76494	0.999;0.999;0.998	D;P;D	0.69307	0.963;0.895;0.919	T	0.71447	-0.4590	10	0.87932	D	0	.	13.5578	0.61770	1.0:0.0:0.0:0.0	.	596;634;685	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	T	685;634;596	ENSP00000389913:I685T;ENSP00000414352:I596T	ENSP00000414352:I596T	I	-	2	0	PLEKHM1	40886947	0.992000	0.36948	0.648000	0.29521	0.385000	0.30292	8.479000	0.90431	2.079000	0.62486	0.477000	0.44152	ATC		0.567	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		26	47	0	0	0	1	0	26	47				
CNOT1	23019	broad.mit.edu	37	16	58559985	58559985	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559985C>A	ENST00000317147.5	-	45	6843	c.6511G>T	c.(6511-6513)Gta>Tta	p.V2171L	CNOT1_ENST00000569240.1_Missense_Mutation_p.V2166L|CNOT1_ENST00000245138.4_Missense_Mutation_p.V1022L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2171					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTGGCATTACTCCAGTGAAA	0.413																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6511-6513)Gta>Tta		CCR4-NOT transcription complex, subunit 1							145.0	141.0	142.0					16																	58559985		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559985C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6511G>T	16.37:g.58559985C>A	ENSP00000320949:p.Val2171Leu					CNOT1_ENST00000569240.1_Missense_Mutation_p.V2166L|CNOT1_ENST00000245138.4_Missense_Mutation_p.V1022L	p.V2171L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	45	6843	-			2171					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6511G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276719	0.80580	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.40225	1.04	5.68	5.68	0.88126	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	N	0.21097	0.63	0.80722	D	1	B;B;B	0.27117	0.168;0.015;0.007	B;B;B	0.20577	0.03;0.007;0.019	T	0.11494	-1.0585	10	0.06891	T	0.86	-20.2251	18.7868	0.91959	0.0:1.0:0.0:0.0	.	1022;2171;2166	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	2171;865;176;1022	ENSP00000320949:V2171L	ENSP00000245138:V1022L	V	-	1	0	CNOT1	57117486	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.625000	0.83145	2.682000	0.91365	0.557000	0.71058	GTA		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		33	62	1	0	1.36615e-20	1	1.79416e-20	33	62				
ZFP64	55734	broad.mit.edu	37	20	50769213	50769213	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50769213G>A	ENST00000216923.4	-	6	1867	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P504P|ZFP64_ENST00000346617.4_Silent_p.P452P|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTTCGCCTGGGGCACCTGAT	0.652																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1516-1518)ccC>ccT		ZFP64 zinc finger protein							25.0	28.0	27.0					20																	50769213		2201	4300	6501	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769213G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1518C>T	20.37:g.50769213G>A						ZFP64_ENST00000346617.4_Silent_p.P452P|ZFP64_ENST00000371515.4_Silent_p.P504P|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron	p.P506P	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1867	-			506					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.1518C>T	CCDS13440.1																																																																																				0.652	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		14	17	0	0	0	1	0	14	17				
LTBP3	4054	broad.mit.edu	37	11	65319442	65319442	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65319442C>T	ENST00000301873.5	-	8	1800		c.e8+1		LTBP3_ENST00000322147.4_Splice_Site|LTBP3_ENST00000536982.1_Splice_Site	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3						bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCAGGCTAGACCTCTCTCTTC	0.602											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.e8+1		latent transforming growth factor beta binding protein 3							118.0	130.0	126.0					11																	65319442		2201	4297	6498	SO:0001630	splice_region_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65319442C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1531+1G>A	11.37:g.65319442C>T			OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000322147.4_Splice_Site|LTBP3_ENST00000536982.1_Splice_Site		NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			8	1800	-								O15107|Q96HB9|Q9H7K2|Q9UFN4	Splice_Site	SNP	ENST00000301873.5	37		CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656380	0.29425	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000526927;ENST00000536982;ENST00000530866	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3124	0.60388	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTBP3	65076018	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.424000	0.44714	1.994000	0.58287	0.195000	0.17529	.		0.602	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070	Intron	88	98	0	0	0	1	0	88	98				
CCDC116	164592	broad.mit.edu	37	22	21988801	21988801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988801G>T	ENST00000292779.3	+	3	724	c.563G>T	c.(562-564)aGg>aTg	p.R188M	CCDC116_ENST00000607942.1_Missense_Mutation_p.R188M	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	188										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACCTGTGAGGGACAAACTC	0.627																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(562-564)aGg>aTg		coiled-coil domain containing 116							47.0	52.0	50.0					22																	21988801		2200	4298	6498	SO:0001583	missense	164592							g.chr22:21988801G>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.563G>T	22.37:g.21988801G>T	ENSP00000292779:p.Arg188Met						p.R188M	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			3	724	+	Colorectal(54;0.105)		188					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.563G>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	7.658	0.684249	0.14907	.	.	ENSG00000161180	ENST00000292779	T	0.16457	2.34	4.6	-5.73	0.02398	.	0.851366	0.10207	N	0.702542	T	0.18087	0.0434	L	0.43923	1.385	0.09310	N	1	D;P	0.53885	0.963;0.924	P;P	0.52267	0.694;0.494	T	0.04360	-1.0957	9	.	.	.	-55.0279	8.0414	0.30523	0.5615:0.1131:0.3253:0.0	.	188;188	B7Z7H5;Q8IYX3-2	.;.	M	188	ENSP00000292779:R188M	.	R	+	2	0	CCDC116	20318801	0.001000	0.12720	0.001000	0.08648	0.233000	0.25261	-1.749000	0.01824	-1.593000	0.01617	-1.579000	0.00862	AGG		0.627	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		6	44	1	0	3.59834e-05	1	4.01776e-05	6	44				
RP1L1	94137	broad.mit.edu	37	8	10470542	10470542	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470542C>A	ENST00000382483.3	-	4	1289	c.1066G>T	c.(1066-1068)Gac>Tac	p.D356Y		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	356					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGAACGGGGTCTTCCCCACTG	0.682																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1066-1068)Gac>Tac		retinitis pigmentosa 1-like 1							46.0	51.0	49.0					8																	10470542		2014	4182	6196	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470542C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1066G>T	8.37:g.10470542C>A	ENSP00000371923:p.Asp356Tyr						p.D356Y	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1289	-			356					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1066G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492409	0.44352	.	.	ENSG00000183638	ENST00000382483	T	0.04758	3.56	5.2	2.36	0.29203	.	1.977920	0.03165	U	0.169888	T	0.06142	0.0159	N	0.22421	0.69	0.09310	N	1	D	0.55605	0.972	P	0.47528	0.549	T	0.24657	-1.0154	10	0.49607	T	0.09	0.2221	4.4376	0.11557	0.1555:0.4928:0.2722:0.0795	.	356	A6NKC6	.	Y	356	ENSP00000371923:D356Y	ENSP00000371923:D356Y	D	-	1	0	RP1L1	10507952	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.024000	0.13555	0.182000	0.20032	0.561000	0.74099	GAC		0.682	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			31	63	1	0	1.88708e-17	1	2.44853e-17	31	63				
TRAPPC8	22878	broad.mit.edu	37	18	29454613	29454613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29454613C>A	ENST00000283351.4	-	13	2118	c.1783G>T	c.(1783-1785)Ggc>Tgc	p.G595C	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G541C|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G595C	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	595					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAGACCAGCCTTTTCCTTTG	0.363																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1783-1785)Ggc>Tgc		trafficking protein particle complex 8							93.0	86.0	89.0					18																	29454613		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29454613C>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1783G>T	18.37:g.29454613C>A	ENSP00000283351:p.Gly595Cys					TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G595C|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G541C	p.G595C	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			13	2118	-			595					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.1783G>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817146	0.50633	.	.	ENSG00000153339	ENST00000283351	T	0.79749	-1.3	5.58	5.58	0.84498	.	0.046518	0.85682	D	0.000000	D	0.89054	0.6606	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71870	0.967;0.975	D	0.89454	0.3732	10	0.72032	D	0.01	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	595;595	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	C	595	ENSP00000283351:G595C	ENSP00000283351:G595C	G	-	1	0	TRAPPC8	27708611	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.412000	0.80091	2.641000	0.89580	0.585000	0.79938	GGC		0.363	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		25	55	1	0	6.07407e-21	1	7.98272e-21	25	55				
FSTL1	11167	broad.mit.edu	37	3	120121677	120121677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120121677G>A	ENST00000295633.3	-	9	1139	c.783C>T	c.(781-783)gtC>gtT	p.V261V	FSTL1_ENST00000424703.2_Silent_p.V226V	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	261	VWFC.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TGGCTGTACAGACCCAATTTC	0.522																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(781-783)gtC>gtT		follistatin-like 1							172.0	147.0	155.0					3																	120121677		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120121677G>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.783C>T	3.37:g.120121677G>A						FSTL1_ENST00000424703.2_Silent_p.V226V	p.V261V	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	9	1139	-			261			VWFC.		A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.783C>T	CCDS2998.1																																																																																				0.522	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		24	60	0	0	0	1	0	24	60				
TIGD4	201798	broad.mit.edu	37	4	153691371	153691371	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153691371G>A	ENST00000304337.2	-	2	1606	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	262	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CAAATACATCGGAGGTCATCC	0.408																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(784-786)tcC>tcT		tigger transposable element derived 4							129.0	130.0	130.0					4																	153691371		2203	4300	6503	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691371G>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.786C>T	4.37:g.153691371G>A							p.S262S	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1606	-	all_hematologic(180;0.093)		262			DDE.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.786C>T	CCDS34079.1																																																																																				0.408	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		39	90	0	0	0	1	0	39	90				
C15orf27	123591	broad.mit.edu	37	15	76430170	76430170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76430170C>T	ENST00000388942.3	+	3	437	c.161C>T	c.(160-162)gCt>gTt	p.A54V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	54					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCTGGCTGCTGTCGATCTC	0.522																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(160-162)gCt>gTt		chromosome 15 open reading frame 27							77.0	84.0	81.0					15																	76430170		1988	4157	6145	SO:0001583	missense	123591					integral to membrane		g.chr15:76430170C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.161C>T	15.37:g.76430170C>T	ENSP00000373594:p.Ala54Val						p.A54V	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			3	437	+			54					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.161C>T	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229225	0.79688	.	.	ENSG00000169758	ENST00000388942	T	0.44482	0.92	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000029	T	0.61527	0.2354	M	0.67953	2.075	0.48087	D	0.999581	D	0.71674	0.998	D	0.64687	0.928	T	0.65001	-0.6274	10	0.87932	D	0	-2.7797	16.1705	0.81812	0.0:1.0:0.0:0.0	.	54	Q2M3C6	CO027_HUMAN	V	54	ENSP00000373594:A54V	ENSP00000373594:A54V	A	+	2	0	C15orf27	74217225	1.000000	0.71417	0.874000	0.34290	0.665000	0.39181	5.270000	0.65547	2.548000	0.85928	0.655000	0.94253	GCT		0.522	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		7	79	0	0	0	1	0	7	79				
CCDC66	285331	broad.mit.edu	37	3	56658533	56658533	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56658533G>A	ENST00000394672.3	+	0	3096				FAM208A_ENST00000431842.2_Missense_Mutation_p.A1049V|FAM208A_ENST00000493960.2_Missense_Mutation_p.A1486V|FAM208A_ENST00000355628.5_Missense_Mutation_p.A1425V|FAM208A_ENST00000485156.1_5'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATTCTCATTAGCACCAAGCTG	0.378																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(3145-3147)gCt>gTt		family with sequence similarity 208, member A							144.0	137.0	139.0					3																	56658533		2203	4300	6503	SO:0001628	intergenic_variant	23272							g.chr3:56658533G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56658533G>A						FAM208A_ENST00000493960.2_Missense_Mutation_p.A1486V|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000355628.5_Missense_Mutation_p.A1425V	p.A1049V	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			16	4070	-			1486					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.3146C>T	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	6.317	0.426542	0.11987	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.13657	2.57;2.69;2.74	5.43	4.55	0.56014	.	0.308193	0.28442	N	0.015340	T	0.11665	0.0284	L	0.43152	1.355	0.34781	D	0.73477	B;B;B;B	0.28419	0.015;0.211;0.004;0.003	B;B;B;B	0.24006	0.02;0.05;0.01;0.002	T	0.11792	-1.0573	10	0.62326	D	0.03	-2.5705	7.589	0.28010	0.076:0.0:0.6396:0.2844	.	1486;1425;1049;1486	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	V	1049;1486;1425	ENSP00000399410:A1049V;ENSP00000417509:A1486V;ENSP00000347845:A1425V	ENSP00000347845:A1425V	A	-	2	0	C3orf63	56633573	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	1.174000	0.31932	1.285000	0.44548	0.561000	0.74099	GCT		0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		6	111	0	0	0	1	0	6	111				
SGK1	6446	broad.mit.edu	37	6	134583151	134583151	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134583151G>T	ENST00000367858.5	-	2	802	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	SGK1_ENST00000524929.1_Missense_Mutation_p.L69M	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGTTCACCCAGGCATGTTTGA	0.527																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(205-207)Ctg>Atg		serum/glucocorticoid regulated kinase 1							189.0	169.0	175.0					6																	134583151		1568	3582	5150	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134583151G>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.205C>A	6.37:g.134583151G>T	ENSP00000356832:p.Leu69Met					SGK1_ENST00000524929.1_Missense_Mutation_p.L69M	p.L69M	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	2	802	-	Colorectal(23;0.221)		0					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000367858.5	37	c.205C>A	CCDS47476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.799339|2.799339	0.50208|0.50208	.|.	.|.	ENSG00000118515|ENSG00000118515	ENST00000367858;ENST00000461976;ENST00000524929|ENST00000460769	T|.	0.74632|.	-0.86|.	5.76|5.76	3.73|3.73	0.42828|0.42828	.|.	0.000000|.	0.39985|.	N|.	0.001204|.	T|T	0.16428|0.16428	0.0395|0.0395	L|L	0.29908|0.29908	0.895|0.895	0.27725|0.27725	N|N	0.944999|0.944999	D;P|.	0.89917|.	1.0;0.852|.	D;P|.	0.81914|.	0.995;0.487|.	T|T	0.12785|0.12785	-1.0534|-1.0534	10|5	0.36615|.	T|.	0.2|.	.|.	7.9034|7.9034	0.29748|0.29748	0.2779:0.0:0.7221:0.0|0.2779:0.0:0.7221:0.0	.|.	69;69|.	Q7Z3I4;O00141-2|.	.;.|.	M|H	69;38;69|16	ENSP00000356832:L69M|.	ENSP00000356832:L69M|.	L|P	-|-	1|2	2|0	SGK1|SGK1	134624844|134624844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	1.116000|1.116000	0.31221|0.31221	1.414000|1.414000	0.47017|0.47017	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.527	SGK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042304.2			10	119	1	0	0.0581538	1	0.0593651	10	119				
FAM159A	348378	broad.mit.edu	37	1	53122674	53122674	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53122674T>C	ENST00000517870.1	+	3	685	c.535T>C	c.(535-537)Tct>Cct	p.S179P	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	179						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGAGGAAGCCTCTGTACCCAA	0.527																																						ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(535-537)Tct>Cct		family with sequence similarity 159, member A							213.0	221.0	218.0					1																	53122674		2059	4205	6264	SO:0001583	missense	348378					integral to membrane		g.chr1:53122674T>C		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.535T>C	1.37:g.53122674T>C	ENSP00000429726:p.Ser179Pro					FAM159A_ENST00000401050.3_Intron	p.S179P	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			3	685	+			179					Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.535T>C	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	T	2.318	-0.356424	0.05138	.	.	ENSG00000182183	ENST00000517870	.	.	.	3.77	-1.65	0.08291	.	.	.	.	.	T	0.13329	0.0323	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26018	-1.0115	8	0.20046	T	0.44	.	2.7475	0.05271	0.2795:0.3799:0.0:0.3406	.	179	Q6UWV7	F159A_HUMAN	P	179	.	ENSP00000429726:S179P	S	+	1	0	FAM159A	52895262	0.001000	0.12720	0.082000	0.20525	0.354000	0.29330	0.346000	0.19997	-0.234000	0.09782	-1.098000	0.02139	TCT		0.527	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		20	279	0	0	0	1	0	20	279				
RBM12B	389677	broad.mit.edu	37	8	94746082	94746082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94746082C>A	ENST00000399300.2	-	3	2770	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.E733*|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	853							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCGGAGCTTCCCTAAGGTCT	0.527																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2557-2559)Gaa>Taa		RNA binding motif protein 12B							63.0	65.0	64.0					8																	94746082		1819	4079	5898	SO:0001587	stop_gained	389677						nucleotide binding|RNA binding	g.chr8:94746082C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2557G>T	8.37:g.94746082C>A	ENSP00000382239:p.Glu853*					RBM12B_ENST00000517700.1_Nonsense_Mutation_p.E733*|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	p.E853*	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2770	-	Breast(36;4.14e-07)		853					A8MYB5	Nonsense_Mutation	SNP	ENST00000399300.2	37	c.2557G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766485	0.98477	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	.	.	.	5.04	4.09	0.47781	.	2.010350	0.01863	N	0.036725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0203	6.6023	0.22707	0.0:0.7234:0.1816:0.095	.	.	.	.	X	853;733	.	ENSP00000382239:E853X	E	-	1	0	RBM12B	94815258	0.918000	0.31147	0.652000	0.29579	0.993000	0.82548	1.231000	0.32624	2.767000	0.95098	0.563000	0.77884	GAA		0.527	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		7	82	1	0	2.7689e-08	1	3.31013e-08	7	82				
SOS2	6655	broad.mit.edu	37	14	50623748	50623748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50623748G>A	ENST00000216373.5	-	12	2300	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	SOS2_ENST00000543680.1_Missense_Mutation_p.R643C|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	676	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATTCCTTGCGAAATCTTTTA	0.358																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(2026-2028)Cgc>Tgc		son of sevenless homolog 2 (Drosophila)							84.0	71.0	75.0					14																	50623748		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50623748G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2026C>T	14.37:g.50623748G>A	ENSP00000216373:p.Arg676Cys					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.R643C	p.R676C	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			12	2300	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		676			N-terminal Ras-GEF.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.2026C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081467	0.76528	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.30981	1.51;1.51	4.95	4.04	0.47022	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.988;0.971	T	0.70328	-0.4902	10	0.87932	D	0	.	15.5287	0.75932	0.0:0.1387:0.8612:0.0	.	643;706;676	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	C	676;643	ENSP00000216373:R676C;ENSP00000445328:R643C	ENSP00000216373:R676C	R	-	1	0	SOS2	49693498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.768000	0.62293	1.181000	0.42912	0.585000	0.79938	CGC		0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			7	7	0	0	0	1	0	7	7				
GTF2IRD1	9569	broad.mit.edu	37	7	73973325	73973325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73973325C>A	ENST00000265755.3	+	21	2680	c.2287C>A	c.(2287-2289)Ctg>Atg	p.L763M	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L780M|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L748M|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.L748M	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	763					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCCAGAACCTGGAGAGGAT	0.577																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2242-2244)Ctg>Atg		GTF2I repeat domain containing 1							86.0	82.0	84.0					7																	73973325		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73973325C>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2287C>A	7.37:g.73973325C>A	ENSP00000265755:p.Leu763Met					GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L763M|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L780M|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L748M|GTF2IRD1_ENST00000489094.1_3'UTR	p.L748M			Q9UHL9	GT2D1_HUMAN			21	3933	+			763					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2242C>A	CCDS5571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.004711|4.004711	0.74932|0.74932	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977|ENST00000470715	T;T;T;T|.	0.62498|.	0.02;0.02;0.02;0.02|.	4.52|4.52	3.4|3.4	0.38934|0.38934	.|.	0.083226|.	0.50627|.	D|.	0.000104|.	T|T	0.50274|0.50274	0.1606|0.1606	N|N	0.25890|0.25890	0.77|0.77	0.49687|0.49687	D|D	0.999819|0.999819	D;D;D;D|.	0.89917|.	0.999;0.961;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.966;1.0;1.0|.	T|T	0.43782|0.43782	-0.9370|-0.9370	10|5	0.41790|.	T|.	0.15|.	-14.7268|-14.7268	12.4922|12.4922	0.55907|0.55907	0.0:0.9001:0.0:0.0999|0.0:0.9001:0.0:0.0999	.|.	780;748;763;748|.	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2|.	.;.;GT2D1_HUMAN;.|.	M|H	763;780;748;748|125	ENSP00000265755:L763M;ENSP00000397566:L780M;ENSP00000408477:L748M;ENSP00000418383:L748M|.	ENSP00000265755:L763M|.	L|P	+|+	1|2	2|0	GTF2IRD1|GTF2IRD1	73611261|73611261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.532000|5.532000	0.67154|0.67154	2.063000|2.063000	0.61619|0.61619	0.455000|0.455000	0.32223|0.32223	CTG|CCT		0.577	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		6	80	1	0	5.18039e-06	1	5.91835e-06	6	80				
GOLGA2P5	55592	broad.mit.edu	37	12	100567088	100567088	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100567088C>A	ENST00000397112.4	-	0	349				RP11-175P13.3_ENST00000548404.2_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGGGTATGGCCTTAATGCTCC	0.507																																						ENST00000548404.2																			0																																																			0							g.chr12:100567088C>A																													12.37:g.100567088C>A						GOLGA2B_ENST00000397112.4_RNA								0	813	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.507	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			3	14	1	0	0.115264	1	0.117355	3	14				
ADCY2	108	broad.mit.edu	37	5	7816988	7816988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7816988C>T	ENST00000338316.4	+	23	2982	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R785W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	965					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCCCGAGCGGCAGTACAT	0.507											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2893-2895)Cgg>Tgg		adenylate cyclase 2 (brain)							153.0	128.0	137.0					5																	7816988		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7816988C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2893C>T	5.37:g.7816988C>T	ENSP00000342952:p.Arg965Trp		OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_ENST00000537121.1_Missense_Mutation_p.R785W	p.R965W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			23	2982	+			965					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2893C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739806	0.69304	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.81579	-1.51;-1.51	5.42	2.46	0.29980	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.92459	3.31	0.47308	D	0.99938	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	D	0.92504	0.6011	10	0.87932	D	0	.	15.5128	0.75798	0.2986:0.7014:0.0:0.0	.	785;965	B7Z2C1;Q08462	.;ADCY2_HUMAN	W	965;118;798;785	ENSP00000342952:R965W;ENSP00000444803:R785W	ENSP00000342952:R965W	R	+	1	2	ADCY2	7869988	0.998000	0.40836	0.995000	0.50966	0.991000	0.79684	0.876000	0.28092	0.138000	0.18790	0.561000	0.74099	CGG		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		12	30	0	0	0	1	0	12	30				
CAPN9	10753	broad.mit.edu	37	1	230928214	230928214	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230928214T>G	ENST00000271971.2	+	16	1878	c.1765T>G	c.(1765-1767)Ttc>Gtc	p.F589V	CAPN9_ENST00000366666.2_Missense_Mutation_p.F526V|CAPN9_ENST00000354537.1_Missense_Mutation_p.F563V|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	589	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTCAAAGTGTTCTGGGACAA	0.527																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1687-1689)Ttc>Gtc		calpain 9							137.0	125.0	129.0					1																	230928214		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230928214T>G	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1765T>G	1.37:g.230928214T>G	ENSP00000271971:p.Phe589Val					RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.F526V|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000271971.2_Missense_Mutation_p.F589V|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA	p.F563V	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			15	1769	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	589			Domain IV.|EF-hand 2.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.1687T>G	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961917	0.74016	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.94537	-3.45;-3.45;-3.45	5.13	5.13	0.70059	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96191	0.8758	L	0.53729	1.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.96605	0.9448	10	0.66056	D	0.02	.	14.8957	0.70642	0.0:0.0:0.0:1.0	.	526;563;589	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	V	589;563;526	ENSP00000271971:F589V;ENSP00000346538:F563V;ENSP00000355626:F526V	ENSP00000271971:F589V	F	+	1	0	CAPN9	228994837	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.756000	0.47549	2.071000	0.62044	0.533000	0.62120	TTC		0.527	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		13	100	0	0	0	1	0	13	100				
SLITRK3	22865	broad.mit.edu	37	3	164905746	164905746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164905746G>A	ENST00000475390.1	-	2	3316	c.2873C>T	c.(2872-2874)gCc>gTc	p.A958V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A958V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	958					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAAGTTTGGCCCTTAACTC	0.428										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2872-2874)gCc>gTc		SLIT and NTRK-like family, member 3							167.0	165.0	165.0					3																	164905746		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164905746G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2873C>T	3.37:g.164905746G>A	ENSP00000420091:p.Ala958Val	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.A958V	p.A958V			O94933	SLIK3_HUMAN			2	3316	-			958					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2873C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580297	0.65992	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.71934	-0.61;-0.61	5.97	5.97	0.96955	.	0.000000	0.34484	N	0.003925	T	0.67618	0.2912	L	0.52011	1.625	0.47037	D	0.999295	P	0.51057	0.941	B	0.40741	0.339	T	0.72959	-0.4133	10	0.87932	D	0	-14.3998	17.3696	0.87372	0.0:0.1244:0.8756:0.0	.	958	O94933	SLIK3_HUMAN	V	958	ENSP00000420091:A958V;ENSP00000241274:A958V	ENSP00000241274:A958V	A	-	2	0	SLITRK3	166388440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.489000	0.81451	2.836000	0.97738	0.655000	0.94253	GCC		0.428	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		15	181	0	0	0	1	0	15	181				
UBR4	23352	broad.mit.edu	37	1	19503154	19503154	+	Missense_Mutation	SNP	C	C	T	rs201852494		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19503154C>T	ENST00000375254.3	-	20	2732	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	UBR4_ENST00000375226.2_Missense_Mutation_p.R902Q|UBR4_ENST00000375267.2_Missense_Mutation_p.R902Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R902Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	902					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTGGTTGCCCGGCGGCTGTT	0.428																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(2704-2706)cGg>cAg		ubiquitin protein ligase E3 component n-recognin 4							86.0	84.0	85.0					1																	19503154		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19503154C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2705G>A	1.37:g.19503154C>T	ENSP00000364403:p.Arg902Gln					UBR4_ENST00000375254.3_Missense_Mutation_p.R902Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R902Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R902Q	p.R902Q			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	20	2708	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	902					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2705G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378034	0.61735	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.97	5.97	0.96955	.	0.063346	0.64402	D	0.000013	T	0.48926	0.1527	N	0.22421	0.69	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.33266	-0.9875	10	0.33940	T	0.23	.	18.2118	0.89872	0.0:1.0:0.0:0.0	.	902	Q5T4S7	UBR4_HUMAN	Q	902;902;902;902;118	ENSP00000364403:R902Q;ENSP00000364416:R902Q;ENSP00000364365:R902Q;ENSP00000364374:R902Q	ENSP00000364365:R902Q	R	-	2	0	UBR4	19375741	0.986000	0.35501	0.971000	0.41717	0.717000	0.41224	3.502000	0.53332	2.836000	0.97738	0.655000	0.94253	CGG		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		10	46	0	0	0	1	0	10	46				
TPRX1	284355	broad.mit.edu	37	19	48305146	48305146	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48305146C>A	ENST00000322175.3	-	2	1277	c.1122G>T	c.(1120-1122)caG>caT	p.Q374H	TPRX1_ENST00000543508.1_Missense_Mutation_p.Q364H|TPRX1_ENST00000535759.1_Missense_Mutation_p.Q471H	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	374						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CTTCTTGGTACTGAGAGGTCA	0.537																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1411-1413)caG>caT		tetra-peptide repeat homeobox 1							128.0	132.0	131.0					19																	48305146		2203	4300	6503	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305146C>A		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1122G>T	19.37:g.48305146C>A	ENSP00000323455:p.Gln374His					TPRX1_ENST00000322175.3_Missense_Mutation_p.Q374H|TPRX1_ENST00000543508.1_Missense_Mutation_p.Q364H	p.Q471H			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	1412	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	374					A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.1413G>T	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	c	7.993	0.753709	0.15778	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.93076	-1.99;-3.16	1.41	0.357	0.16079	.	.	.	.	.	T	0.82235	0.4993	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	B	0.41299	0.353	T	0.76179	-0.3054	9	0.87932	D	0	.	3.6833	0.08319	0.0:0.7495:0.0:0.2505	.	374	Q8N7U7	TPRX1_HUMAN	H	374;471;364	ENSP00000323455:Q374H;ENSP00000438832:Q471H	ENSP00000323455:Q374H	Q	-	3	2	TPRX1	52996958	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.098000	0.11024	0.187000	0.20147	0.491000	0.48974	CAG		0.537	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		5	113	1	0	0.00116845	1	0.00124821	5	113				
ETS1	2113	broad.mit.edu	37	11	128350152	128350152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128350152G>A	ENST00000319397.6	-	6	1234	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ETS1_ENST00000345075.4_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.R353W|ETS1_ENST00000535549.1_Missense_Mutation_p.R93W|ETS1_ENST00000526145.2_Intron|ETS1_ENST00000531611.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	309					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACGGTCCCGCACATAGTCC	0.597																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(1057-1059)Cgg>Tgg		v-ets avian erythroblastosis virus E26 oncogene homolog 1							128.0	107.0	114.0					11																	128350152		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128350152G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.925C>T	11.37:g.128350152G>A	ENSP00000324578:p.Arg309Trp					ETS1_ENST00000345075.4_Intron|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.R93W|ETS1_ENST00000319397.5_Missense_Mutation_p.R309W|ETS1_ENST00000526145.1_Intron	p.R353W	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	8	1125	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	309					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.1057C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258584	0.80246	.	.	ENSG00000134954	ENST00000535549;ENST00000392668;ENST00000319397	T;T;T	0.14391	2.51;2.51;2.51	5.19	5.19	0.71726	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.44542	1.39	0.58432	D	0.999995	D;D;D	0.89917	0.998;0.996;1.0	B;P;P	0.58820	0.342;0.753;0.846	T	0.00438	-1.1739	10	0.66056	D	0.02	.	13.6788	0.62472	0.0:0.0:0.8457:0.1543	.	309;93;353	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	W	93;353;309	ENSP00000441430:R93W;ENSP00000376436:R353W;ENSP00000324578:R309W	ENSP00000324578:R309W	R	-	1	2	ETS1	127855362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.805000	0.69143	2.400000	0.81607	0.650000	0.86243	CGG		0.597	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		14	31	0	0	0	1	0	14	31				
KLHL11	55175	broad.mit.edu	37	17	40010251	40010251	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010251A>C	ENST00000319121.3	-	2	1928	c.1868T>G	c.(1867-1869)aTt>aGt	p.I623S	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	623										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTGTTTATCAATATCATCACT	0.453																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1867-1869)aTt>aGt		kelch-like family member 11							102.0	94.0	96.0					17																	40010251		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010251A>C		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1868T>G	17.37:g.40010251A>C	ENSP00000314608:p.Ile623Ser						p.I623S	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1928	-		Breast(137;0.00156)	623						Missense_Mutation	SNP	ENST00000319121.3	37	c.1868T>G	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055385	0.36277	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.64618	-0.11	5.59	5.59	0.84812	Kelch-type beta propeller (1);	0.125573	0.56097	D	0.000038	T	0.42404	0.1201	N	0.08118	0	0.49687	D	0.999814	B	0.12630	0.006	B	0.14023	0.01	T	0.40194	-0.9576	10	0.87932	D	0	-1.0483	11.1698	0.48565	0.928:0.0:0.072:0.0	.	623	Q9NVR0	KLH11_HUMAN	S	623;486	ENSP00000314608:I623S	ENSP00000314608:I623S	I	-	2	0	KLHL11	37263777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.708000	0.68377	2.246000	0.74042	0.528000	0.53228	ATT		0.453	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		35	51	0	0	0	1	0	35	51				
AANAT	15	broad.mit.edu	37	17	74465918	74465918	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74465918C>A	ENST00000392492.3	+	4	724	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	AANAT_ENST00000250615.3_Missense_Mutation_p.L209M	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	164	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						CGAGGACGCGCTGGTACCCTT	0.711																																						ENST00000250615.3																			0				lung(1)	1						c.(625-627)Ctg>Atg		aralkylamine N-acetyltransferase							19.0	17.0	18.0					17																	74465918		2200	4297	6497	SO:0001583	missense	15				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity	g.chr17:74465918C>A	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"""serotonin N-acetyltransferase"""	600950	"""arylalkylamine N-acetyltransferase"""			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.490C>A	17.37:g.74465918C>A	ENSP00000376282:p.Leu164Met					AANAT_ENST00000392492.3_Missense_Mutation_p.L164M	p.L209M	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN			7	1632	+			164					A0AVF2|J3KMZ5|Q562F4	Missense_Mutation	SNP	ENST00000392492.3	37	c.625C>A	CCDS11745.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462446	0.63513	.	.	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.22336	1.96;1.96	5.12	5.12	0.69794	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52518	-0.8565	10	0.66056	D	0.02	-17.0791	18.5628	0.91107	0.0:1.0:0.0:0.0	.	164	Q16613	SNAT_HUMAN	M	209;164	ENSP00000250615:L209M;ENSP00000376282:L164M	ENSP00000250615:L209M	L	+	1	2	AANAT	71977513	0.997000	0.39634	0.877000	0.34402	0.025000	0.11179	3.686000	0.54685	2.375000	0.81037	0.455000	0.32223	CTG		0.711	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	NM_001088		6	4	1	0	8.12818e-05	1	8.99451e-05	6	4				
ARHGAP25	9938	broad.mit.edu	37	2	69046261	69046261	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69046261C>A	ENST00000295381.3	+	9	1426	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P337H|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P329H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P30H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P297H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCAGGGACTCCTCAGATCCAA	0.493																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1006-1008)cCt>cAt		Rho GTPase activating protein 25							176.0	192.0	186.0					2																	69046261		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046261C>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1007C>A	2.37:g.69046261C>A	ENSP00000295381:p.Pro336His					ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P329H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P297H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P30H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P337H	p.P336H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			9	1426	+			336			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1007C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.443798|3.443798	0.63067|0.63067	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	.|T;T;T;T;T;T;T	.|0.43294	.|0.95;2.77;2.77;0.95;2.77;2.77;1.96	4.97|4.97	3.18|3.18	0.36537|0.36537	.|Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	.|0.165528	.|0.53938	.|D	.|0.000043	T|T	0.55210|0.55210	0.1906|0.1906	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P	.|0.71674	.|0.979;0.993;0.993;0.998;0.998;0.806	.|P;P;P;D;D;P	.|0.65323	.|0.594;0.897;0.897;0.934;0.912;0.566	T|T	0.52924|0.52924	-0.8510|-0.8510	5|10	.|0.30078	.|T	.|0.28	.|.	10.4493|10.4493	0.44513|0.44513	0.0:0.7809:0.0:0.2191|0.0:0.7809:0.0:0.2191	.|.	.|297;337;330;329;330;336	.|E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.|.;.;.;.;.;RHG25_HUMAN	I|H	196|336;337;297;329;330;330;330;321;30	.|ENSP00000295381:P336H;ENSP00000386911:P337H;ENSP00000420583:P297H;ENSP00000386863:P329H;ENSP00000386241:P330H;ENSP00000417139:P330H;ENSP00000417467:P30H	.|ENSP00000295381:P336H	L|P	+|+	1|2	0|0	ARHGAP25|ARHGAP25	68899765|68899765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.005000|2.005000	0.40864|0.40864	1.460000|1.460000	0.47911|0.47911	0.563000|0.563000	0.77884|0.77884	CTC|CCT		0.493	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		22	242	1	0	3.28513e-13	1	4.1605e-13	22	242				
PEX11G	92960	broad.mit.edu	37	19	7550889	7550889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7550889G>A	ENST00000221480.1	-	2	92	c.84C>T	c.(82-84)tgC>tgT	p.C28C	PEX11G_ENST00000593942.1_5'UTR|PEX11G_ENST00000599519.1_5'Flank	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	28					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CAACCAGCTGGCAGCAGTACC	0.607																																						ENST00000221480.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						c.(82-84)tgC>tgT		peroxisomal biogenesis factor 11 gamma							61.0	50.0	54.0					19																	7550889		2203	4300	6503	SO:0001819	synonymous_variant	92960					integral to membrane|peroxisomal membrane		g.chr19:7550889G>A	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.84C>T	19.37:g.7550889G>A						PEX11G_ENST00000593942.1_5'UTR	p.C28C	NM_080662.2	NP_542393.1	Q96HA9	PX11C_HUMAN			2	92	-			28					Q8NDM0	Silent	SNP	ENST00000221480.1	37	c.84C>T	CCDS12178.1																																																																																				0.607	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		9	13	0	0	0	1	0	9	13				
KIF26A	26153	broad.mit.edu	37	14	104643465	104643465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104643465G>T	ENST00000423312.2	+	12	4340	c.4340G>T	c.(4339-4341)aGc>aTc	p.S1447I	KIF26A_ENST00000315264.7_Missense_Mutation_p.S1308I	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1447					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGCGCACAGCAGCAGCAAG	0.701																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3922-3924)aGc>aTc		kinesin family member 26A							13.0	17.0	15.0					14																	104643465		2060	4121	6181	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104643465G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4340G>T	14.37:g.104643465G>T	ENSP00000388241:p.Ser1447Ile					KIF26A_ENST00000423312.2_Missense_Mutation_p.S1447I	p.S1308I			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	4301	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1447					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3923G>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	1.020	-0.685108	0.03328	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78364	-1.17;-1.17	3.6	2.69	0.31865	.	.	.	.	.	T	0.53965	0.1829	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.29785	0.107	T	0.40098	-0.9581	9	0.05436	T	0.98	.	10.3525	0.43945	0.0:0.0:0.4432:0.5568	.	1447	Q9ULI4	KI26A_HUMAN	I	1447;1308	ENSP00000388241:S1447I;ENSP00000325452:S1308I	ENSP00000325452:S1308I	S	+	2	0	KIF26A	103713218	0.502000	0.26107	0.002000	0.10522	0.478000	0.33099	3.691000	0.54720	0.472000	0.27344	0.313000	0.20887	AGC		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			8	6	1	0	2.74318e-10	1	3.37541e-10	8	6				
PCDHB7	56129	broad.mit.edu	37	5	140554240	140554240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554240G>A	ENST00000231137.3	+	1	1998	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(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)			AGCTGCTCAAGGCCACGGAGC	0.711																																						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.(1822-1824)aaG>aaA									27.0	40.0	35.0					5																	140554240		1983	4004	5987	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554240G>A	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.1824G>A	5.37:g.140554240G>A							p.K608K	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1998	+			608			Cadherin 6.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1824G>A	CCDS4249.1																																																																																				0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		9	81	0	0	0	1	0	9	81				
STX2	2054	broad.mit.edu	37	12	131291536	131291536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131291536G>A	ENST00000392373.2	-	6	548	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	STX2_ENST00000261653.6_Silent_p.L152L	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	152					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CTTATCTCCAGCTGGCGCTGG	0.478																																						ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(454-456)Ctg>Ttg		syntaxin 2							100.0	92.0	95.0					12																	131291536		2203	4300	6503	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131291536G>A	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.454C>T	12.37:g.131291536G>A						STX2_ENST00000392373.2_Silent_p.L152L	p.L152L	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	6	620	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		152					Q86VW8	Silent	SNP	ENST00000392373.2	37	c.454C>T	CCDS9270.1																																																																																				0.478	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		25	53	0	0	0	1	0	25	53				
KIAA0922	23240	broad.mit.edu	37	4	154557572	154557572	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154557572G>A	ENST00000409663.3	+	35	4726	c.4674G>A	c.(4672-4674)tcG>tcA	p.S1558S	KIAA0922_ENST00000440693.1_Silent_p.S1475S|KIAA0922_ENST00000409959.3_Silent_p.S1559S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1558						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGGAACATTCGACCCACATGG	0.522																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4675-4677)tcG>tcA		KIAA0922							101.0	100.0	100.0					4																	154557572		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154557572G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4674G>A	4.37:g.154557572G>A						KIAA0922_ENST00000409663.3_Silent_p.S1558S|KIAA0922_ENST00000440693.1_Silent_p.S1475S	p.S1559S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			35	4726	+	all_hematologic(180;0.093)	Renal(120;0.118)	1558					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.4677G>A	CCDS3783.2																																																																																				0.522	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		39	45	0	0	0	1	0	39	45				
OTUD3	23252	broad.mit.edu	37	1	20224082	20224082	+	Missense_Mutation	SNP	G	G	A	rs199964779		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20224082G>A	ENST00000375120.3	+	4	534	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	178	His-loop.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGCATATCGGTATGGAGAG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17242	0.0		0.0	False		,,,				2504	0.0					ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(532-534)cGg>cAg		OTU domain containing 3							121.0	118.0	119.0					1																	20224082		2036	4193	6229	SO:0001583	missense	23252							g.chr1:20224082G>A	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.533G>A	1.37:g.20224082G>A	ENSP00000364261:p.Arg178Gln					OTUD3_ENST00000466697.1_3'UTR	p.R178Q	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	534	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	178			OTU.		O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.533G>A	CCDS41279.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.688540	0.96784	.	.	ENSG00000169914	ENST00000375120	T	0.48522	0.81	5.78	5.78	0.91487	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.62723	1.935	0.80722	D	1	P	0.51351	0.944	P	0.53689	0.732	T	0.57556	-0.7791	10	0.41790	T	0.15	.	18.5841	0.91182	0.0:0.0:1.0:0.0	.	178	Q5T2D3	OTUD3_HUMAN	Q	178	ENSP00000364261:R178Q	ENSP00000364261:R178Q	R	+	2	0	OTUD3	20096669	1.000000	0.71417	0.725000	0.30721	0.930000	0.56654	8.924000	0.92827	2.730000	0.93505	0.655000	0.94253	CGG		0.507	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			16	31	0	0	0	1	0	16	31				
LRBA	987	broad.mit.edu	37	4	151829607	151829607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151829607C>T	ENST00000357115.3	-	11	1615	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	LRBA_ENST00000510413.1_Missense_Mutation_p.V458I|LRBA_ENST00000535741.1_Missense_Mutation_p.V458I|LRBA_ENST00000507224.1_Missense_Mutation_p.V458I	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	458						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGTTAAAACTGCCTTTACA	0.328																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1372-1374)Gtt>Att		LPS-responsive vesicle trafficking, beach and anchor containing							99.0	93.0	95.0					4																	151829607		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151829607C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1372G>A	4.37:g.151829607C>T	ENSP00000349629:p.Val458Ile					LRBA_ENST00000357115.3_Missense_Mutation_p.V458I|LRBA_ENST00000507224.1_Missense_Mutation_p.V458I|LRBA_ENST00000510413.1_Missense_Mutation_p.V458I	p.V458I			P50851	LRBA_HUMAN			11	1845	-	all_hematologic(180;0.151)		458					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1372G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040997	0.35989	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.57107	0.85;1.0;0.85;0.42	5.63	4.78	0.61160	.	0.154659	0.41605	D	0.000846	T	0.57021	0.2025	L	0.27053	0.805	0.52501	D	0.999951	D;B;B	0.64830	0.994;0.244;0.011	D;B;B	0.70716	0.97;0.298;0.027	T	0.47911	-0.9080	10	0.23302	T	0.38	.	14.3264	0.66523	0.0:0.9287:0.0:0.0713	.	458;458;458	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	I	458	ENSP00000446299:V458I;ENSP00000421552:V458I;ENSP00000349629:V458I;ENSP00000422180:V458I	ENSP00000349629:V458I	V	-	1	0	LRBA	152049057	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	2.657000	0.46724	2.802000	0.96397	0.563000	0.77884	GTT		0.328	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	26	0	0	0	1	0	8	26				
RASAL2	9462	broad.mit.edu	37	1	178421775	178421775	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178421775C>T	ENST00000462775.1	+	9	1678	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	RASAL2_ENST00000367649.3_Missense_Mutation_p.A666V|RASAL2_ENST00000448150.3_Missense_Mutation_p.A648V	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	518	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGAACCTGGCCAACTTTGCC	0.428																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1942-1944)gCc>gTc		RAS protein activator like 2							112.0	102.0	105.0					1																	178421775		2203	4299	6502	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178421775C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1553C>T	1.37:g.178421775C>T	ENSP00000420558:p.Ala518Val					RASAL2_ENST00000367649.3_Missense_Mutation_p.A666V|RASAL2_ENST00000462775.1_Missense_Mutation_p.A518V	p.A648V	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			11	2761	+			518					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1943C>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172723	0.94807	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.87412	-2.25;1.41;-2.25	5.15	5.15	0.70609	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.95414	0.8511	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.993	D	0.96561	0.9415	10	0.87932	D	0	.	18.6427	0.91400	0.0:1.0:0.0:0.0	.	648;518;666	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	V	648;666;518	ENSP00000407768:A648V;ENSP00000356621:A666V;ENSP00000420558:A518V	ENSP00000356621:A666V	A	+	2	0	RASAL2	176688398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.381000	0.81170	0.557000	0.71058	GCC		0.428	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		6	95	0	0	0	1	0	6	95				
ZNF560	147741	broad.mit.edu	37	19	9578926	9578926	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578926T>C	ENST00000301480.4	-	10	910	c.697A>G	c.(697-699)Atg>Gtg	p.M233V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAGTACTCATGTTGGTCTTA	0.378																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(697-699)Atg>Gtg		zinc finger protein 560							118.0	98.0	105.0					19																	9578926		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578926T>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.697A>G	19.37:g.9578926T>C	ENSP00000301480:p.Met233Val						p.M233V	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	910	-			233					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.697A>G	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	T	1.661	-0.511554	0.04200	.	.	ENSG00000198028	ENST00000301480	T	0.41400	1.0	2.32	-1.17	0.09648	.	.	.	.	.	T	0.24851	0.0603	N	0.20766	0.605	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14420	-1.0473	9	0.37606	T	0.19	.	8.0747	0.30710	0.0:0.3553:0.0:0.6447	.	233	Q96MR9	ZN560_HUMAN	V	233	ENSP00000301480:M233V	ENSP00000301480:M233V	M	-	1	0	ZNF560	9439926	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.089000	0.11180	-0.859000	0.04105	-1.447000	0.01057	ATG		0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		8	85	0	0	0	1	0	8	85				
MPL	4352	broad.mit.edu	37	1	43804212	43804212	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804212G>T	ENST00000372470.3	+	3	254		c.e3-1		MPL_ENST00000413998.2_Splice_Site	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor						blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TATGCCAACAGGGAGAAGCCC	0.587			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	ENST00000372470.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	GRCh37	CS061305	MPL	S		c.e3-1		myeloproliferative leukemia virus oncogene							68.0	66.0	67.0					1																	43804212		2203	4300	6503	SO:0001630	splice_region_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804212G>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.213-1G>T	1.37:g.43804212G>T						MPL_ENST00000413998.2_Splice_Site		NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN			3	254	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)						Q5JUZ0	Splice_Site	SNP	ENST00000372470.3	37		CCDS483.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532865	0.64972	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9505	0.71071	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MPL	43576799	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.025000	0.64097	2.597000	0.87782	0.557000	0.71058	.		0.587	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	Intron	9	34	1	0	0.00621372	1	0.00652201	9	34				
FRMPD3	84443	broad.mit.edu	37	X	106797649	106797649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106797649G>A	ENST00000276185.4	+	9	776	c.776G>A	c.(775-777)tGc>tAc	p.C259Y	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	259	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGAATGAAATGCCTCTTCCGA	0.502																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(775-777)tGc>tAc		FERM and PDZ domain containing 3							40.0	36.0	37.0					X																	106797649		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106797649G>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.776G>A	X.37:g.106797649G>A	ENSP00000276185:p.Cys259Tyr					FRMPD3_ENST00000477796.1_3'UTR	p.C259Y			Q5JV73	FRPD3_HUMAN			9	776	+			259			FERM.		Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.776G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.532920	0.85812	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.17370	2.28;2.29	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.79123	2.44	0.58432	D	0.999999	.	.	.	.	.	.	T	0.20538	-1.0272	8	0.49607	T	0.09	.	17.5569	0.87894	0.0:0.0:1.0:0.0	.	.	.	.	Y	259;207	ENSP00000276185:C259Y;ENSP00000398668:C207Y	ENSP00000276185:C259Y	C	+	2	0	FRMPD3	106684305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.362000	0.80069	0.422000	0.28245	TGC		0.502	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		6	12	0	0	0	1	0	6	12				
FGA	2243	broad.mit.edu	37	4	155507082	155507082	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155507082A>G	ENST00000302053.3	-	5	1577	c.1499T>C	c.(1498-1500)tTg>tCg	p.L500S	FGA_ENST00000403106.3_Missense_Mutation_p.L500S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	500					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TATGCCAGACAATGTGCCTAA	0.488																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1498-1500)tTg>tCg		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						125.0	120.0	122.0					4																	155507082		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507082A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1499T>C	4.37:g.155507082A>G	ENSP00000306361:p.Leu500Ser					FGA_ENST00000403106.3_Missense_Mutation_p.L500S	p.L500S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1577	-	all_hematologic(180;0.215)	Renal(120;0.0458)	500					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1499T>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834189	0.32421	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.54675	0.56;0.56	5.18	4.0	0.46444	Fibrinogen alpha C domain (1);	.	.	.	.	T	0.32763	0.0840	N	0.14661	0.345	0.09310	N	1	B;B	0.24823	0.112;0.032	B;B	0.20384	0.029;0.02	T	0.16512	-1.0400	9	0.30854	T	0.27	.	7.8945	0.29697	0.84:0.0:0.16:0.0	.	500;500	P02671-2;P02671	.;FIBA_HUMAN	S	500	ENSP00000306361:L500S;ENSP00000385981:L500S	ENSP00000306361:L500S	L	-	2	0	FGA	155726532	0.810000	0.29049	0.002000	0.10522	0.002000	0.02628	2.581000	0.46077	1.021000	0.39600	0.450000	0.29827	TTG		0.488	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		8	88	0	0	0	1	0	8	88				
ZZEF1	23140	broad.mit.edu	37	17	3999910	3999910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3999910C>T	ENST00000381638.2	-	10	1881	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	586							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATAATTCTTATCTGTGT	0.343																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1756-1758)aGa>aAa		zinc finger, ZZ-type with EF-hand domain 1							113.0	121.0	118.0					17																	3999910		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3999910C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1757G>A	17.37:g.3999910C>T	ENSP00000371051:p.Arg586Lys					ZZEF1_ENST00000574474.1_5'UTR	p.R586K	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			10	1881	-			586					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1757G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531628	0.45073	.	.	ENSG00000074755	ENST00000381638	T	0.20881	2.04	5.73	4.74	0.60224	.	0.087668	0.85682	D	0.000000	T	0.14227	0.0344	N	0.19112	0.55	0.48395	D	0.999641	P;P	0.36315	0.547;0.489	B;B	0.33339	0.162;0.109	T	0.07139	-1.0788	10	0.29301	T	0.29	-10.7207	15.376	0.74605	0.1404:0.8596:0.0:0.0	.	586;586	O43149-3;O43149	.;ZZEF1_HUMAN	K	586	ENSP00000371051:R586K	ENSP00000371051:R586K	R	-	2	0	ZZEF1	3946659	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.073000	0.50057	1.521000	0.48983	0.555000	0.69702	AGA		0.343	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		13	153	0	0	0	1	0	13	153				
SEL1L3	23231	broad.mit.edu	37	4	25819872	25819872	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25819872G>A	ENST00000399878.3	-	9	1574	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	SEL1L3_ENST00000264868.5_Silent_p.L449L|SEL1L3_ENST00000502949.1_Silent_p.L331L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	484						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGCGCTGGAGGTCCAGGT	0.547																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1450-1452)ctC>ctT		sel-1 suppressor of lin-12-like 3 (C. elegans)							51.0	54.0	53.0					4																	25819872		1960	4162	6122	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25819872G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1452C>T	4.37:g.25819872G>A						SEL1L3_ENST00000502949.1_Silent_p.L331L|SEL1L3_ENST00000264868.5_Silent_p.L449L	p.L484L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			9	1574	-			484					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.1452C>T	CCDS47037.1																																																																																				0.547	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		5	4	0	0	0	1	0	5	4				
SLCO1B7	338821	broad.mit.edu	37	12	21229457	21229457	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21229457T>C	ENST00000421593.2	+	12	1678	c.1678T>C	c.(1678-1680)Tgt>Cgt	p.C560R	LST3_ENST00000381541.3_Missense_Mutation_p.C607R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C668R|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.C607R|RP11-125O5.2_ENST00000590779.1_Silent_p.A60A|LST3_ENST00000540229.1_Missense_Mutation_p.C668R	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	560						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CACCAACAGCTGTGGAGCACG	0.348																																						ENST00000540229.1																			0											c.(2002-2004)Tgt>Cgt									177.0	189.0	185.0					12																	21229457		2203	4300	6503	SO:0001583	missense	0							g.chr12:21229457T>C	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1678T>C	12.37:g.21229457T>C	ENSP00000394168:p.Cys560Arg					SLCO1B7_ENST00000421593.2_Missense_Mutation_p.C560R|RP11-125O5.2_ENST00000590779.1_Silent_p.A60A|LST3_ENST00000381541.3_Missense_Mutation_p.C607R|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.C607R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C668R	p.C668R							15	2067	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2002T>C	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433802	0.25813	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	T;T;T;T;T;T	0.79940	0.43;-1.32;0.43;-1.32;1.06;1.06	2.4	1.19	0.21007	.	0.287809	0.45606	D	0.000358	D	0.89065	0.6609	M	0.92317	3.295	0.54753	D	0.999985	D;D;P	0.71674	0.994;0.998;0.922	D;D;P	0.72075	0.976;0.976;0.678	D	0.85866	0.1413	10	0.87932	D	0	.	5.2838	0.15690	0.0:0.1543:0.0:0.8457	.	560;607;668	G3V0H7;F5H094;Q5JAR4	.;.;.	R	668;607;668;607;560;69	ENSP00000451758:C668R;ENSP00000370952:C607R;ENSP00000441269:C668R;ENSP00000452013:C607R;ENSP00000394168:C560R;ENSP00000439857:C69R	ENSP00000370952:C607R	C	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21120724	0.986000	0.35501	0.033000	0.17914	0.448000	0.32197	2.192000	0.42649	0.164000	0.19529	0.172000	0.16884	TGT		0.348	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		85	121	0	0	0	1	0	85	121				
KIF9	64147	broad.mit.edu	37	3	47307308	47307308	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47307308C>T	ENST00000265529.3	-	9	1508	c.828G>A	c.(826-828)gaG>gaA	p.E276E	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Silent_p.E276E|KIF9_ENST00000452770.2_Silent_p.E276E|KIF9_ENST00000352910.4_Silent_p.E183E|KIF9_ENST00000335044.2_Silent_p.E276E			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	276	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATGGCCTGCTCCAGGAATG	0.542																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(826-828)gaG>gaA		kinesin family member 9							215.0	182.0	193.0					3																	47307308		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47307308C>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.828G>A	3.37:g.47307308C>T						KIF9_ENST00000444589.2_Silent_p.E276E|KIF9_ENST00000452770.2_Silent_p.E276E|KIF9_ENST00000352910.4_Silent_p.E183E|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.E276E	p.E276E	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1185	-		Acute lymphoblastic leukemia(5;0.164)	276					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.828G>A	CCDS2752.1																																																																																				0.542	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			31	77	0	0	0	1	0	31	77				
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Silent	SNP	C	C	T	rs370258306		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20344654C>T	ENST00000298642.2	+	1	264	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(226-228)ttC>ttT		olfactory receptor, family 4, subfamily K, member 2		C		0,4406		0,0,2203	291.0	280.0	284.0		228	4.1	1.0	14		284	1,8599		0,1,4299	no	coding-synonymous	OR4K2	NM_001005501.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		76/315	20344654	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344654C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.228C>T	14.37:g.20344654C>T							p.F76F	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	264	+	all_cancers(95;0.00108)		76					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.228C>T	CCDS32023.1																																																																																				0.418	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			97	178	0	0	0	1	0	97	178				
NIPBL	25836	broad.mit.edu	37	5	37008826	37008826	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37008826G>T	ENST00000282516.8	+	20	4920		c.e20+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAACTTCAGGTAATTAATTA	0.289																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.e20+1		Nipped-B homolog (Drosophila)							50.0	62.0	58.0					5																	37008826		2183	4277	6460	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37008826G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4421+1G>T	5.37:g.37008826G>T						NIPBL_ENST00000448238.2_Splice_Site		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		20	4920	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37		CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554136	0.86231	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6684	0.91501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37044583	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.384000	0.97219	2.456000	0.83038	0.591000	0.81541	.		0.289	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	27	65	1	0	1.39806e-14	1	1.78606e-14	27	65				
HUS1B	135458	broad.mit.edu	37	6	656869	656869	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656869G>A	ENST00000380907.2	-	1	94	c.76C>T	c.(76-78)Cta>Tta	p.L26L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	26					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		ACCTTCGCTAGCCTCGCGACG	0.667																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(76-78)Cta>Tta		HUS1 checkpoint homolog b (S. pombe)							46.0	43.0	44.0					6																	656869		2203	4298	6501	SO:0001819	synonymous_variant	135458							g.chr6:656869G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.76C>T	6.37:g.656869G>A						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.L26L	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	94	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	26					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.76C>T	CCDS4470.1																																																																																				0.667	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		13	20	0	0	0	1	0	13	20				
TRIM37	4591	broad.mit.edu	37	17	57158493	57158493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57158493G>A	ENST00000262294.7	-	6	716	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	TRIM37_ENST00000376149.3_Missense_Mutation_p.R31C|TRIM37_ENST00000393066.3_Missense_Mutation_p.R153C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R119C	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	153					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCATGAGACGCCGACGAAGT	0.318									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(91-93)Cgt>Tgt		tripartite motif containing 37							110.0	106.0	107.0					17																	57158493		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57158493G>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.457C>T	17.37:g.57158493G>A	ENSP00000262294:p.Arg153Cys					TRIM37_ENST00000262294.7_Missense_Mutation_p.R153C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R119C|TRIM37_ENST00000393066.3_Missense_Mutation_p.R153C	p.R31C			O94972	TRI37_HUMAN			6	900	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		153					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.91C>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682670	0.47991	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.73363	1.39;1.39;-0.74;0.97	5.62	5.62	0.85841	B-box, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.86636	0.5980	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.982	D	0.88096	0.2816	10	0.87932	D	0	-14.2348	14.0432	0.64689	0.0:0.0:0.8486:0.1514	.	119;31;153	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	C	153;153;31;119	ENSP00000376785:R153C;ENSP00000262294:R153C;ENSP00000365319:R31C;ENSP00000376784:R119C	ENSP00000262294:R153C	R	-	1	0	TRIM37	54513275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.232000	0.72313	2.661000	0.90470	0.650000	0.86243	CGT		0.318	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		61	71	0	0	0	1	0	61	71				
CLHC1	130162	broad.mit.edu	37	2	55449462	55449462	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55449462C>A	ENST00000401408.1	-	3	431	c.86G>T	c.(85-87)aGa>aTa	p.R29I	CLHC1_ENST00000407122.1_Missense_Mutation_p.R29I|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	29																	AATTATGTATCTTTGCACACT	0.348																																						ENST00000401408.1																			0											c.(85-87)aGa>aTa		clathrin heavy chain linker domain containing 1							208.0	205.0	206.0					2																	55449462		2202	4300	6502	SO:0001583	missense	130162							g.chr2:55449462C>A		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.86G>T	2.37:g.55449462C>A	ENSP00000384869:p.Arg29Ile					CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.R29I|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron	p.R29I	NM_152385.2	NP_689598.2					3	431	-								B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.86G>T	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156351	0.78114	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000451916;ENST00000403506	T;T	0.19938	2.11;2.11	5.58	4.69	0.59074	.	0.123680	0.56097	D	0.000036	T	0.40272	0.1110	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.13045	-1.0524	10	0.54805	T	0.06	-21.5868	12.1413	0.53998	0.0:0.9166:0.0:0.0834	.	29	Q8NHS4	CB063_HUMAN	I	29	ENSP00000385778:R29I;ENSP00000384869:R29I	ENSP00000384869:R29I	R	-	2	0	C2orf63	55302966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.189000	0.32114	2.607000	0.88179	0.561000	0.74099	AGA		0.348	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		30	83	1	0	2.85442e-18	1	3.71821e-18	30	83				
EPPK1	83481	broad.mit.edu	37	8	144940549	144940549	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940549C>T	ENST00000525985.1	-	2	6944	c.6873G>A	c.(6871-6873)gtG>gtA	p.V2291V				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCGCCCACCACGCCCGCGG	0.721																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6871-6873)gtG>gtA		epiplakin 1							77.0	77.0	77.0					8																	144940549		2167	4250	6417	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940549C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6873G>A	8.37:g.144940549C>T							p.V2291V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6944	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2291					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6873G>A																																																																																					0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		7	42	0	0	0	1	0	7	42				
SETD5	55209	broad.mit.edu	37	3	9487358	9487358	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9487358A>C	ENST00000406341.1	+	12	1648	c.1458A>C	c.(1456-1458)gaA>gaC	p.E486D	SETD5_ENST00000402198.1_Missense_Mutation_p.E486D|SETD5_ENST00000402466.1_Missense_Mutation_p.E388D|SETD5_ENST00000407969.1_Missense_Mutation_p.E505D|SETD5_ENST00000302463.6_Missense_Mutation_p.E388D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	486										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAATCCAGAAGAAAAACCAG	0.393																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1162-1164)gaA>gaC		SET domain containing 5							112.0	112.0	112.0					3																	9487358		1854	4097	5951	SO:0001583	missense	55209							g.chr3:9487358A>C	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1458A>C	3.37:g.9487358A>C	ENSP00000383939:p.Glu486Asp					SETD5_ENST00000302463.6_Missense_Mutation_p.E388D|SETD5_ENST00000406341.1_Missense_Mutation_p.E486D|SETD5_ENST00000407969.1_Missense_Mutation_p.E505D|SETD5_ENST00000402198.1_Missense_Mutation_p.E486D	p.E388D			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	14	1932	+	Medulloblastoma(99;0.227)		486			SET.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1164A>C	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972035	0.53614	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93547	-2.9;-3.24;-2.9;-2.89;-3.24	6.02	2.39	0.29439	.	0.097154	0.64402	D	0.000001	D	0.94082	0.8103	L	0.55481	1.735	0.31748	N	0.635009	B;B;D;D	0.58970	0.004;0.001;0.984;0.976	B;B;D;P	0.68192	0.028;0.003;0.956;0.661	D	0.91544	0.5252	10	0.46703	T	0.11	-19.2957	7.752	0.28903	0.6629:0.0:0.3371:0.0	.	155;388;486;505	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	D	486;388;486;505;388	ENSP00000385852:E486D;ENSP00000384429:E388D;ENSP00000383939:E486D;ENSP00000384114:E505D;ENSP00000302028:E388D	ENSP00000302028:E388D	E	+	3	2	SETD5	9462358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.490000	0.22403	0.184000	0.20083	0.533000	0.62120	GAA		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		17	33	0	0	0	1	0	17	33				
ERBB4	2066	broad.mit.edu	37	2	212293204	212293204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212293204G>A	ENST00000342788.4	-	22	2958	c.2648C>T	c.(2647-2649)cCa>cTa	p.P883L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P873L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P883L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	883	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P883L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCATTTAATTGGCATCTATAG	0.328										TSP Lung(8;0.080)																												ENST00000342788.4																			1	Substitution - Missense(1)	p.P883L(1)	skin(1)	NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2647-2649)cCa>cTa		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							73.0	74.0	74.0					2																	212293204		2203	4297	6500	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212293204G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2648C>T	2.37:g.212293204G>A	ENSP00000342235:p.Pro883Leu	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.P873L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P883L	p.P883L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	22	2958	-		Renal(323;0.06)|Lung NSC(271;0.197)	883			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2648C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946883	0.92593	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.63096	-0.02;-0.02;-0.02	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047856	0.85682	D	0.000000	D	0.85695	0.5756	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.76494	0.99;0.999;0.99;0.992	P;D;P;P	0.67548	0.551;0.952;0.551;0.68	D	0.89399	0.3694	10	0.87932	D	0	.	19.9116	0.97026	0.0:0.0:1.0:0.0	.	873;873;883;883	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	883;883;873	ENSP00000342235:P883L;ENSP00000403204:P883L;ENSP00000385565:P873L	ENSP00000342235:P883L	P	-	2	0	ERBB4	212001449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.604000	0.98317	2.710000	0.92621	0.650000	0.86243	CCA		0.328	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		28	25	0	0	0	1	0	28	25				
POMP	51371	broad.mit.edu	37	13	29242705	29242705	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29242705G>T	ENST00000380842.4	+	4	339	c.258G>T	c.(256-258)gtG>gtT	p.V86V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	86					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCAAGGCAGTGCAGCAGGTGA	0.378																																						ENST00000380842.4																			0				endometrium(2)|kidney(1)|large_intestine(1)	4						c.(256-258)gtG>gtT		proteasome maturation protein							106.0	97.0	100.0					13																	29242705		2203	4300	6503	SO:0001819	synonymous_variant	51371				proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex		g.chr13:29242705G>T	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.258G>T	13.37:g.29242705G>T						POMP_ENST00000460403.1_3'UTR	p.V86V	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)	4	339	+		Lung SC(185;0.0367)	86					A5HKJ2|D6MXU3|Q9HB69	Silent	SNP	ENST00000380842.4	37	c.258G>T	CCDS9331.1																																																																																				0.378	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932		6	40	1	0	3.59834e-05	1	4.01776e-05	6	40				
SLC6A4	6532	broad.mit.edu	37	17	28530324	28530324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28530324G>A	ENST00000401766.2	-	13	2196	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	RP11-354P11.4_ENST00000581633.1_RNA|SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.Q562*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	562					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AGTCGTAGTTGTGGCGGGCTC	0.363																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1684-1686)Caa>Taa		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						135.0	144.0	141.0					17																	28530324		2203	4300	6503	SO:0001587	stop_gained	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28530324G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1684C>T	17.37:g.28530324G>A	ENSP00000385822:p.Gln562*					SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.Q562*	p.Q562*			P31645	SC6A4_HUMAN			13	2196	-			562					Q5EE02	Nonsense_Mutation	SNP	ENST00000401766.2	37	c.1684C>T	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	43	10.181588	0.99354	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	.	.	.	6.17	4.05	0.47172	.	0.065747	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.7569	0.88451	0.0:0.2869:0.7131:0.0	.	.	.	.	X	604;562;562	.	ENSP00000261707:Q562X	Q	-	1	0	SLC6A4	25554450	0.889000	0.30405	0.998000	0.56505	0.973000	0.67179	1.592000	0.36676	1.619000	0.50296	0.655000	0.94253	CAA		0.363	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		37	73	0	0	0	1	0	37	73				
OSR1	130497	broad.mit.edu	37	2	19553015	19553015	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:19553015G>T	ENST00000272223.2	-	2	896	c.552C>A	c.(550-552)ttC>ttA	p.F184L	OSR1_ENST00000536433.1_Missense_Mutation_p.F184L	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	184					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGACTTGGTGAAGTGGCGGC	0.562																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(550-552)ttC>ttA		odd-skipped related transciption factor 1							126.0	119.0	121.0					2																	19553015		2203	4300	6503	SO:0001583	missense	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553015G>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.552C>A	2.37:g.19553015G>T	ENSP00000272223:p.Phe184Leu					OSR1_ENST00000272223.2_Missense_Mutation_p.F184L	p.F184L			Q8TAX0	OSR1_HUMAN			1	3662	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	184					B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	c.552C>A	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477823	0.84640	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.12879	2.64;2.64	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	M	0.75615	2.305	0.58432	D	0.999997	D	0.65815	0.995	D	0.64410	0.925	T	0.03068	-1.1076	9	.	.	.	-25.4256	19.4378	0.94804	0.0:0.0:1.0:0.0	.	184	Q8TAX0	OSR1_HUMAN	L	184	ENSP00000272223:F184L;ENSP00000441801:F184L	.	F	-	3	2	OSR1	19416496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.776000	0.55356	2.685000	0.91497	0.650000	0.86243	TTC		0.562	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		36	63	1	0	1.7489e-18	1	2.28119e-18	36	63				
VPS13A	23230	broad.mit.edu	37	9	79955198	79955198	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79955198A>G	ENST00000360280.3	+	49	7139	c.6879A>G	c.(6877-6879)caA>caG	p.Q2293Q	VPS13A_ENST00000376636.3_Splice_Site_p.Q2254Q|VPS13A_ENST00000357409.5_Splice_Site_p.Q2293Q|VPS13A_ENST00000376634.4_Splice_Site_p.Q2293Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2293					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGACTATCAAGTGAGTTCAT	0.284																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.e49+1		vacuolar protein sorting 13 homolog A (S. cerevisiae)							112.0	114.0	113.0					9																	79955198		2203	4299	6502	SO:0001630	splice_region_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79955198A>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6879+1A>G	9.37:g.79955198A>G						VPS13A_ENST00000376634.4_Splice_Site_p.Q2293_splice|VPS13A_ENST00000357409.5_Splice_Site_p.Q2293_splice|VPS13A_ENST00000376636.3_Splice_Site_p.Q2254_splice	p.Q2293_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			49	7139	+			2293					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	37	c.6879_splice	CCDS6655.1																																																																																				0.284	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Silent	5	105	0	0	0	1	0	5	105				
LINC00521	256369	broad.mit.edu	37	14	94464466	94464466	+	RNA	SNP	G	G	A	rs375118360		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94464466G>A	ENST00000444118.1	+	0	146					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		CATAGCTTGCGGTGGTGAGGT	0.572																																						ENST00000444118.1																			0															G		0,4406		0,0,2203	69.0	59.0	62.0			1.4	0.0	14		62	2,8598	2.2+/-6.3	0,2,4298	no	intergenic				0,2,6501	AA,AG,GG		0.0233,0.0,0.0154			94464466	2,13004	2203	4300	6503			0							g.chr14:94464466G>A	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464466G>A								NR_024182.1						0	146	+								Q8N7S1	RNA	SNP	ENST00000444118.1	37																																																																																						0.572	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			4	18	0	0	0	1	0	4	18				
NEURL4	84461	broad.mit.edu	37	17	7227784	7227784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227784G>A	ENST00000399464.2	-	10	1844	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	NEURL4_ENST00000315614.7_Missense_Mutation_p.T610I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T588I	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	610	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCATTCCCAGTCATCATCCA	0.627											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1828-1830)aCt>aTt		neuralized E3 ubiquitin protein ligase 4							71.0	76.0	74.0					17																	7227784		2076	4198	6274	SO:0001583	missense	84461							g.chr17:7227784G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1829C>T	17.37:g.7227784G>A	ENSP00000382390:p.Thr610Ile		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000315614.7_Missense_Mutation_p.T610I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T588I	p.T610I	NM_032442.2	NP_115818.2					10	1844	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1829C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468457	0.84533	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73469	-0.75;-0.75	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);NEUZ (2);	0.115998	0.56097	D	0.000027	D	0.85894	0.5803	M	0.72479	2.2	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.987	D	0.87268	0.2284	10	0.87932	D	0	-18.8236	17.8943	0.88881	0.0:0.0:1.0:0.0	.	610;610	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	610	ENSP00000319826:T610I;ENSP00000382390:T610I	ENSP00000319826:T610I	T	-	2	0	NEURL4	7168508	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	6.319000	0.72871	2.505000	0.84491	0.655000	0.94253	ACT		0.627	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		5	28	0	0	0	1	0	5	28				
HEATR5B	54497	broad.mit.edu	37	2	37297432	37297432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297432C>A	ENST00000233099.5	-	7	963	c.868G>T	c.(868-870)Gga>Tga	p.G290*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G290*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	290						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACATTTCTCCACCGCTCTTT	0.453																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(868-870)Gga>Tga		HEAT repeat containing 5B							168.0	156.0	160.0					2																	37297432		2203	4300	6503	SO:0001587	stop_gained	54497						binding	g.chr2:37297432C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.868G>T	2.37:g.37297432C>A	ENSP00000233099:p.Gly290*					HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G290*	p.G290*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			7	963	-		all_hematologic(82;0.21)	290					B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	c.868G>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	39	7.514582	0.98332	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	4.95	4.95	0.65309	.	0.110502	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-19.2829	18.5443	0.91040	0.0:1.0:0.0:0.0	.	.	.	.	X	290	.	ENSP00000233099:G290X	G	-	1	0	HEATR5B	37150936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.624000	0.83124	2.433000	0.82419	0.563000	0.77884	GGA		0.453	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		12	139	1	0	9.31168e-06	1	1.06029e-05	12	139				
WISP1	8840	broad.mit.edu	37	8	134225108	134225108	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134225108C>T	ENST00000250160.6	+	2	177	c.71C>T	c.(70-72)gCc>gTc	p.A24V	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Splice_Site_p.A24V|WISP1_ENST00000220856.6_Splice_Site_p.A24V	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	24					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCCCGCAGGCCCTCTCTCCA	0.617																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.e2-1		WNT1 inducible signaling pathway protein 1							16.0	16.0	16.0					8																	134225108		2194	4288	6482	SO:0001630	splice_region_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225108C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.70-1C>T	8.37:g.134225108C>T						WISP1_ENST00000220856.6_Splice_Site_p.A24_splice|WISP1_ENST00000517423.1_Splice_Site_p.A24_splice|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	p.A24_splice	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	177	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		24					A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Splice_Site	SNP	ENST00000250160.6	37	c.69_splice	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387558	0.42308	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.79845	-1.31;-0.8;-1.1	5.28	2.41	0.29592	.	1.240060	0.05253	N	0.514309	T	0.70211	0.3198	N	0.24115	0.695	0.80722	D	1	B;B;B	0.15141	0.012;0.011;0.007	B;B;B	0.17098	0.012;0.017;0.012	T	0.56872	-0.7907	10	0.66056	D	0.02	-0.3394	5.9968	0.19499	0.0:0.5381:0.3006:0.1613	.	24;24;24	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	V	24	ENSP00000250160:A24V;ENSP00000427744:A24V;ENSP00000220856:A24V	ENSP00000220856:A24V	A	+	2	0	WISP1	134294290	0.852000	0.29690	0.986000	0.45419	0.111000	0.19643	0.910000	0.28571	0.195000	0.20347	0.655000	0.94253	GCC		0.617	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882	Missense_Mutation	3	3	0	0	0	1	0	3	3				
RPP25L	138716	broad.mit.edu	37	9	34610806	34610806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34610806G>A	ENST00000297613.4	-	2	768	c.488C>T	c.(487-489)tCg>tTg	p.S163L	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.S163L	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	163						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										AGGTCTTCACGATCGGGTGTC	0.607																																						ENST00000297613.4																			0											c.(487-489)tCg>tTg		ribonuclease P/MRP 25kDa subunit-like							60.0	67.0	65.0					9																	34610806		2203	4300	6503	SO:0001583	missense	138716						nucleic acid binding	g.chr9:34610806G>A	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.488C>T	9.37:g.34610806G>A	ENSP00000297613:p.Ser163Leu					RPP25L_ENST00000378959.4_Missense_Mutation_p.S163L	p.S163L	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN			2	768	-			163					D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	c.488C>T	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986760	0.53934	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.42	2.51	0.30379	.	1.158550	0.06393	N	0.717368	T	0.24547	0.0595	N	0.08118	0	0.29098	N	0.881647	B	0.11235	0.004	B	0.04013	0.001	T	0.24835	-1.0149	9	0.54805	T	0.06	.	6.3672	0.21461	0.2382:0.0:0.7618:0.0	.	163	Q8N5L8	CI023_HUMAN	L	163	.	ENSP00000297613:S163L	S	-	2	0	C9orf23	34600806	0.975000	0.34042	0.994000	0.49952	0.972000	0.66771	0.911000	0.28584	0.560000	0.29169	0.643000	0.83706	TCG		0.607	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		31	58	0	0	0	1	0	31	58				
CCND1	595	broad.mit.edu	37	11	69457922	69457922	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69457922T>C	ENST00000227507.2	+	2	549	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	108	Cyclin N-terminal.				canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CACTTGCATGTTCGTGGCCTC	0.617			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(322-324)Ttc>Ctc		cyclin D1	Arsenic trioxide(DB01169)						46.0	45.0	45.0					11																	69457922		2199	4294	6493	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69457922T>C	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.322T>C	11.37:g.69457922T>C	ENSP00000227507:p.Phe108Leu	Multiple Myeloma(6;0.086)				CCND1_ENST00000536559.1_Intron	p.F108L	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		2	549	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		108			Cyclin N-terminal.		Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.322T>C	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398490	0.83120	.	.	ENSG00000110092	ENST00000227507;ENST00000539241;ENST00000535993	T	0.10099	2.91	4.43	4.43	0.53597	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	N	0.16478	0.41	0.80722	D	1	B	0.18013	0.025	B	0.25614	0.062	T	0.17653	-1.0362	10	0.08837	T	0.75	.	13.7039	0.62627	0.0:0.0:0.0:1.0	.	108	P24385	CCND1_HUMAN	L	108	ENSP00000227507:F108L	ENSP00000227507:F108L	F	+	1	0	CCND1	69167103	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.861000	0.56002	1.645000	0.50612	0.391000	0.25812	TTC		0.617	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		4	13	0	0	0	1	0	4	13				
CYP4F11	57834	broad.mit.edu	37	19	16035646	16035646	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16035646A>G	ENST00000402119.4	-	5	998	c.572T>C	c.(571-573)aTg>aCg	p.M191T	CYP4F11_ENST00000326742.8_Missense_Mutation_p.M191T|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000248041.8_Missense_Mutation_p.M191T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGTTCAAACATGTCCAGTCT	0.532																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(571-573)aTg>aCg		cytochrome P450, family 4, subfamily F, polypeptide 11							89.0	75.0	80.0					19																	16035646		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16035646A>G	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.572T>C	19.37:g.16035646A>G	ENSP00000384588:p.Met191Thr					CYP4F11_ENST00000248041.7_Missense_Mutation_p.M191T|CYP4F11_ENST00000402119.3_Missense_Mutation_p.M191T	p.M191T			Q9HBI6	CP4FB_HUMAN			5	573	-			191						Missense_Mutation	SNP	ENST00000402119.4	37	c.572T>C	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	a	14.54	2.566158	0.45694	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.68765	-0.35;-0.35;-0.35	2.84	2.84	0.33178	.	0.193025	0.39687	U	0.001284	T	0.72439	0.3460	M	0.64630	1.985	0.30809	N	0.739079	P;P	0.49185	0.614;0.92	P;P	0.56916	0.743;0.809	T	0.73304	-0.4025	10	0.87932	D	0	.	9.135	0.36868	1.0:0.0:0.0:0.0	.	191;191	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	191	ENSP00000384588:M191T;ENSP00000248041:M191T;ENSP00000319859:M191T	ENSP00000248041:M191T	M	-	2	0	CYP4F11	15896646	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.014000	0.64029	1.297000	0.44761	0.248000	0.18094	ATG		0.532	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		12	20	0	0	0	1	0	12	20				
ZNF221	7638	broad.mit.edu	37	19	44471408	44471408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44471408G>T	ENST00000251269.5	+	6	2082	c.1754G>T	c.(1753-1755)aGt>aTt	p.S585I	ZNF221_ENST00000587682.1_Missense_Mutation_p.S585I|ZNF221_ENST00000592350.1_Missense_Mutation_p.S585I	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGACTCCACAGTGGAGAAAAG	0.448																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1753-1755)aGt>aTt		zinc finger protein 221							80.0	80.0	80.0					19																	44471408		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471408G>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1754G>T	19.37:g.44471408G>T	ENSP00000251269:p.Ser585Ile					ZNF221_ENST00000592350.1_Missense_Mutation_p.S585I|ZNF221_ENST00000587682.1_Missense_Mutation_p.S585I	p.S585I	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	2082	+		Prostate(69;0.0352)	585					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1754G>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	12.88	2.069852	0.36566	.	.	ENSG00000159905	ENST00000251269	T	0.08102	3.13	2.57	-2.18	0.07037	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.08118	0	0.21822	N	0.999529	P	0.48503	0.911	P	0.45037	0.467	T	0.40136	-0.9579	9	0.87932	D	0	.	13.0897	0.59160	0.0:0.659:0.341:0.0	.	585	Q9UK13	ZN221_HUMAN	I	585	ENSP00000251269:S585I	ENSP00000251269:S585I	S	+	2	0	ZNF221	49163248	.	.	0.001000	0.08648	0.346000	0.29079	.	.	-0.465000	0.06953	0.462000	0.41574	AGT		0.448	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			7	76	1	0	2.7689e-08	1	3.31013e-08	7	76				
NSF	4905	broad.mit.edu	37	17	44788360	44788360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44788360G>A	ENST00000398238.4	+	14	1609	c.1502G>A	c.(1501-1503)aGt>aAt	p.S501N	NSF_ENST00000225282.8_Missense_Mutation_p.S407N|NSF_ENST00000575068.1_Missense_Mutation_p.S496N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	501					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GATTATGCAAGTTACATTATG	0.413																																					Ovarian(25;472 742 1472 36813 50223)	ENST00000398238.4																			0				kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1501-1503)aGt>aAt		N-ethylmaleimide-sensitive factor							88.0	85.0	86.0					17																	44788360		1933	4146	6079	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44788360G>A		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1502G>A	17.37:g.44788360G>A	ENSP00000381293:p.Ser501Asn					NSF_ENST00000225282.8_Missense_Mutation_p.S407N|NSF_ENST00000575068.1_Missense_Mutation_p.S496N	p.S501N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	14	1609	+		Melanoma(429;0.203)	501					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1502G>A	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.769155	0.31320	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	T;T	0.41065	1.01;1.01	5.61	5.61	0.85477	.	0.042263	0.85682	D	0.000000	T	0.33235	0.0856	L	0.37800	1.135	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27434	-1.0074	10	0.02654	T	1	-13.3666	19.6345	0.95724	0.0:0.0:1.0:0.0	.	501	P46459	NSF_HUMAN	N	501;407	ENSP00000381293:S501N;ENSP00000225282:S407N	ENSP00000225282:S407N	S	+	2	0	NSF	42143543	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	9.869000	0.99810	2.641000	0.89580	0.655000	0.94253	AGT		0.413	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		32	47	0	0	0	1	0	32	47				
CD151	977	broad.mit.edu	37	11	836123	836123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:836123C>T	ENST00000397420.3	+	3	303	c.54C>T	c.(52-54)taC>taT	p.Y18Y	CD151_ENST00000397421.1_Silent_p.Y18Y|CD151_ENST00000322008.4_Silent_p.Y18Y|CD151_ENST00000528011.1_Silent_p.Y18Y			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	18					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCAAGTACCTGCTGTTTA	0.632																																					Esophageal Squamous(14;501 559 15826 37823 38305)	ENST00000397420.3																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(52-54)taC>taT		CD151 molecule (Raph blood group)							116.0	95.0	102.0					11																	836123		2199	4295	6494	SO:0001819	synonymous_variant	977				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding	g.chr11:836123C>T	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.54C>T	11.37:g.836123C>T						CD151_ENST00000322008.4_Silent_p.Y18Y|CD151_ENST00000397421.1_Silent_p.Y18Y|CD151_ENST00000528011.1_Silent_p.Y18Y	p.Y18Y			P48509	CD151_HUMAN		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	303	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	18					A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Silent	SNP	ENST00000397420.3	37	c.54C>T	CCDS7719.1																																																																																				0.632	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		11	17	0	0	0	1	0	11	17				
KLHDC7B	113730	broad.mit.edu	37	22	50987806	50987806	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50987806A>G	ENST00000395676.2	+	1	1345	c.1211A>G	c.(1210-1212)gAc>gGc	p.D404G	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	404										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCCCTGGACGGGCTGCTC	0.652																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1210-1212)gAc>gGc		kelch domain containing 7B							52.0	53.0	52.0					22																	50987806		2203	4298	6501	SO:0001583	missense	113730							g.chr22:50987806A>G	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1211A>G	22.37:g.50987806A>G	ENSP00000379034:p.Asp404Gly						p.D404G	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1345	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	404						Missense_Mutation	SNP	ENST00000395676.2	37	c.1211A>G	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341877	0.81911	.	.	ENSG00000130487	ENST00000395676	T	0.79749	-1.3	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.353125	0.19777	U	0.106303	T	0.80994	0.4731	N	0.13043	0.29	0.49051	D	0.999746	D	0.76494	0.999	D	0.75484	0.986	T	0.82458	-0.0447	10	0.49607	T	0.09	.	13.277	0.60191	1.0:0.0:0.0:0.0	.	404	Q96G42	KLD7B_HUMAN	G	404	ENSP00000379034:D404G	ENSP00000379034:D404G	D	+	2	0	KLHDC7B	49334672	1.000000	0.71417	0.915000	0.36163	0.680000	0.39746	6.034000	0.70933	2.044000	0.60594	0.402000	0.26972	GAC		0.652	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		10	68	0	0	0	1	0	10	68				
NDNF	79625	broad.mit.edu	37	4	121958553	121958553	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:121958553C>T	ENST00000379692.4	-	4	1099	c.573G>A	c.(571-573)acG>acA	p.T191T	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	191					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCAAAGTGACCGTGGTGCGCC	0.478																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(571-573)acG>acA		neuron-derived neurotrophic factor							203.0	207.0	206.0					4																	121958553		2121	4251	6372	SO:0001819	synonymous_variant	79625							g.chr4:121958553C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.573G>A	4.37:g.121958553C>T						NDNF_ENST00000506900.1_5'UTR	p.T191T	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1099	-			191					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.573G>A	CCDS3717.2																																																																																				0.478	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		45	89	0	0	0	1	0	45	89				
AKNAD1	254268	broad.mit.edu	37	1	109395048	109395048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109395048G>T	ENST00000370001.3	-	2	507	c.239C>A	c.(238-240)gCt>gAt	p.A80D	AKNAD1_ENST00000369994.1_Missense_Mutation_p.A80D|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.A80D	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	80						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGTTGGCAGCATTTTCAGT	0.393																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(238-240)gCt>gAt		AKNA domain containing 1							125.0	118.0	120.0					1																	109395048		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109395048G>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.239C>A	1.37:g.109395048G>T	ENSP00000359018:p.Ala80Asp					AKNAD1_ENST00000369994.1_Missense_Mutation_p.A80D|AKNAD1_ENST00000369995.3_Missense_Mutation_p.A80D|AKNAD1_ENST00000357393.4_Intron	p.A80D	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			2	507	-			80					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.239C>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872474	0.51695	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.07908	3.16;3.17;3.15	5.77	-2.49	0.06403	.	1.570000	0.03319	N	0.191660	T	0.06690	0.0171	L	0.60455	1.87	0.09310	N	1	D	0.67145	0.996	P	0.57548	0.823	T	0.10894	-1.0610	10	0.72032	D	0.01	0.4438	1.6041	0.02680	0.2431:0.1065:0.4316:0.2188	.	80	Q5T1N1	AKND1_HUMAN	D	80	ENSP00000359018:A80D;ENSP00000359011:A80D;ENSP00000359012:A80D	ENSP00000359011:A80D	A	-	2	0	AKNAD1	109196571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.123000	0.15708	-0.396000	0.07703	-0.882000	0.02950	GCT		0.393	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		8	189	1	0	0.0581538	1	0.0593651	8	189				
VWA5A	4013	broad.mit.edu	37	11	123988405	123988405	+	Silent	SNP	C	C	T	rs145152039	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988405C>T	ENST00000456829.2	+	4	320	c.69C>T	c.(67-69)agC>agT	p.S23S	VWA5A_ENST00000392748.1_Silent_p.S23S|VWA5A_ENST00000360334.4_Silent_p.S23S|VWA5A_ENST00000392744.4_Silent_p.S39S|VWA5A_ENST00000449321.1_Silent_p.S23S|VWA5A_ENST00000361352.5_Silent_p.S23S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	23	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.							p.S23S(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCTGTGAGCGTGAACATTT	0.458													C|||	4	0.000798722	0.0008	0.0043	5008	,	,		21718	0.0		0.0	False		,,,				2504	0.0					ENST00000456829.2																			1	Substitution - coding silent(1)	p.S23S(1)	prostate(1)	autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(67-69)agC>agT		von Willebrand factor A domain containing 5A		C	,,	1,4401	2.1+/-5.4	0,1,2200	129.0	127.0	128.0		69,69,69	0.9	0.2	11	dbSNP_134	128	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	VWA5A	NM_001130142.1,NM_014622.4,NM_198315.2	,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,,	23/787,23/787,23/416	123988405	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	4013							g.chr11:123988405C>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.69C>T	11.37:g.123988405C>T						VWA5A_ENST00000392744.4_Silent_p.S39S|VWA5A_ENST00000449321.1_Silent_p.S23S|VWA5A_ENST00000360334.4_Silent_p.S23S|VWA5A_ENST00000361352.5_Silent_p.S23S|VWA5A_ENST00000392748.1_Silent_p.S23S	p.S23S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			4	320	+			23			VIT.		Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	c.69C>T	CCDS8444.1																																																																																				0.458	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		24	43	0	0	0	1	0	24	43				
CCER1	196477	broad.mit.edu	37	12	91347827	91347827	+	Silent	SNP	G	G	A	rs556017505		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347827G>A	ENST00000358859.2	-	1	1126	c.693C>T	c.(691-693)tcC>tcT	p.S231S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	231																	CGTCGTTTCCGGAGGATCTGG	0.637																																						ENST00000358859.2																			0											c.(691-693)tcC>tcT		coiled-coil glutamate-rich protein 1							112.0	132.0	125.0					12																	91347827		2203	4300	6503	SO:0001819	synonymous_variant	196477							g.chr12:91347827G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.693C>T	12.37:g.91347827G>A						CCER1_ENST00000548187.1_Intron	p.S231S	NM_152638.2	NP_689851.1					1	1126	-								Q8TC47	Silent	SNP	ENST00000358859.2	37	c.693C>T	CCDS9036.1																																																																																				0.637	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		57	162	0	0	0	1	0	57	162				
DAAM1	23002	broad.mit.edu	37	14	59730237	59730237	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59730237C>A	ENST00000395125.1	+	1	65	c.42C>A	c.(40-42)atC>atA	p.I14I	DAAM1_ENST00000360909.3_Silent_p.I14I|DAAM1_ENST00000556135.1_Silent_p.I14I|DAAM1_ENST00000351081.1_Silent_p.I14I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	14					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTCATTCATCTTTTGCTGTT	0.438																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(40-42)atC>atA		dishevelled associated activator of morphogenesis 1							152.0	140.0	144.0					14																	59730237		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59730237C>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.42C>A	14.37:g.59730237C>A						DAAM1_ENST00000556135.1_Silent_p.I14I|DAAM1_ENST00000351081.1_Silent_p.I14I|DAAM1_ENST00000360909.3_Silent_p.I14I	p.I14I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	1	65	+			14					Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.42C>A	CCDS9737.1																																																																																				0.438	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		10	86	1	0	0.00136819	1	0.00146042	10	86				
PDE4DIP	9659	broad.mit.edu	37	1	144918898	144918898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144918898G>A	ENST00000369354.3	-	10	1477	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R593*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.R593*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R496*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.R217*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	430					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1777-1779)Cga>Tga		phosphodiesterase 4D interacting protein							425.0	449.0	441.0					1																	144918898		2203	4296	6499	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144918898G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1288C>T	1.37:g.144918898G>A	ENSP00000358360:p.Arg430*					PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R496*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R593*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.R217*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.R430*	p.R593*			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	6	2216	-			430					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.1777C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	37	6.611271	0.97705	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.	.	.	5.64	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7737	0.57436	0.0:0.0:0.6794:0.3206	.	.	.	.	X	496;430;430;593;567;567;430;430;593;593;217	.	ENSP00000327209:R496X	R	-	1	2	PDE4DIP	143630255	1.000000	0.71417	0.991000	0.47740	0.844000	0.47949	1.874000	0.39568	0.677000	0.31305	-0.284000	0.09977	CGA		0.438	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		32	664	0	0	0	1	0	32	664				
MS4A1	931	broad.mit.edu	37	11	60234484	60234484	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60234484C>A	ENST00000534668.1	+	6	915	c.626C>A	c.(625-627)gCt>gAt	p.A209D	MS4A1_ENST00000532073.1_Missense_Mutation_p.A196D|MS4A1_ENST00000345732.4_Missense_Mutation_p.A209D|MS4A1_ENST00000528313.1_Missense_Mutation_p.A42D|MS4A1_ENST00000389939.2_Missense_Mutation_p.A209D	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	209					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CTTGTAATAGCTGGCATCGTT	0.423																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(625-627)gCt>gAt		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						156.0	136.0	143.0					11																	60234484		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60234484C>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.626C>A	11.37:g.60234484C>A	ENSP00000433277:p.Ala209Asp					MS4A1_ENST00000528313.1_Missense_Mutation_p.A42D|MS4A1_ENST00000532073.1_Missense_Mutation_p.A196D|MS4A1_ENST00000345732.4_Missense_Mutation_p.A209D|MS4A1_ENST00000389939.2_Missense_Mutation_p.A209D	p.A209D	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			6	915	+			209					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.626C>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124997	0.37533	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.02498	4.27;4.29;4.27;4.27	5.3	4.37	0.52481	.	0.452872	0.24470	N	0.038260	T	0.12860	0.0312	M	0.75447	2.3	0.21184	N	0.999765	D;D;D	0.69078	0.992;0.997;0.997	D;D;D	0.67548	0.914;0.952;0.952	T	0.01925	-1.1246	10	0.72032	D	0.01	-23.0749	12.2069	0.54356	0.0:0.8282:0.1718:0.0	.	42;196;209	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	D	209;196;209;42;209	ENSP00000314620:A209D;ENSP00000433519:A196D;ENSP00000433277:A209D;ENSP00000374589:A209D	ENSP00000314620:A209D	A	+	2	0	MS4A1	59991060	0.925000	0.31364	0.195000	0.23364	0.055000	0.15305	1.331000	0.33793	1.359000	0.45940	0.655000	0.94253	GCT		0.423	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			37	56	1	0	1.08169e-08	1	1.30067e-08	37	56				
CPXM1	56265	broad.mit.edu	37	20	2774977	2774977	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2774977G>T	ENST00000380605.2	-	14	2128	c.2064C>A	c.(2062-2064)acC>acA	p.T688T		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	688					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCTTCAAAGGTGACCCGAC	0.632																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2062-2064)acC>acA		carboxypeptidase X (M14 family), member 1							59.0	57.0	58.0					20																	2774977		2203	4300	6503	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2774977G>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2064C>A	20.37:g.2774977G>T							p.T688T	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			14	2128	-			688					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.2064C>A	CCDS13033.1																																																																																				0.632	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		13	26	1	0	2.61681e-11	1	3.25769e-11	13	26				
SMARCC1	6599	broad.mit.edu	37	3	47663813	47663813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47663813C>A	ENST00000254480.5	-	25	2784	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	889					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCTTTCTTTCTTCCACTGCA	0.373																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2665-2667)Gaa>Taa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							146.0	139.0	141.0					3																	47663813		2203	4300	6503	SO:0001587	stop_gained	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47663813C>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2665G>T	3.37:g.47663813C>A	ENSP00000254480:p.Glu889*					SMARCC1_ENST00000425518.1_5'UTR	p.E889*	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	25	2784	-			889					Q17RS0|Q6P172|Q8IWH2	Nonsense_Mutation	SNP	ENST00000254480.5	37	c.2665G>T	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	41	8.800805	0.98958	.	.	ENSG00000173473	ENST00000254480	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.0728	19.1705	0.93575	0.0:1.0:0.0:0.0	.	.	.	.	X	889	.	ENSP00000254480:E889X	E	-	1	0	SMARCC1	47638817	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	GAA		0.373	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			58	87	1	0	2.66076e-39	1	3.58773e-39	58	87				
RREB1	6239	broad.mit.edu	37	6	7231795	7231795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231795C>T	ENST00000349384.6	+	10	3777	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	RREB1_ENST00000379933.3_Missense_Mutation_p.R1155W|RREB1_ENST00000334984.6_Missense_Mutation_p.R1155W|RREB1_ENST00000379938.2_Missense_Mutation_p.R1155W	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1155					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAGAGGGGCCGGAAAAGGGG	0.677																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3463-3465)Cgg>Tgg		ras responsive element binding protein 1							9.0	12.0	11.0					6																	7231795		2156	4254	6410	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231795C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3463C>T	6.37:g.7231795C>T	ENSP00000305560:p.Arg1155Trp					RREB1_ENST00000349384.6_Missense_Mutation_p.R1155W|RREB1_ENST00000379933.3_Missense_Mutation_p.R1155W|RREB1_ENST00000334984.6_Missense_Mutation_p.R1155W	p.R1155W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4000	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1155					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3463C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801553	0.70682	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.17528	2.27;2.49;2.27;2.39	5.62	3.75	0.43078	.	0.000000	0.56097	D	0.000028	T	0.25975	0.0633	L	0.59436	1.845	0.42943	D	0.99435	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.992;0.997	T	0.02789	-1.1110	10	0.66056	D	0.02	-41.2446	13.6237	0.62150	0.599:0.401:0.0:0.0	.	1155;1155;1155	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	W	1155	ENSP00000369265:R1155W;ENSP00000369270:R1155W;ENSP00000305560:R1155W;ENSP00000335574:R1155W	ENSP00000335574:R1155W	R	+	1	2	RREB1	7176794	0.421000	0.25465	0.993000	0.49108	0.904000	0.53231	0.972000	0.29409	0.642000	0.30620	0.655000	0.94253	CGG		0.677	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			9	11	0	0	0	1	0	9	11				
HIVEP1	3096	broad.mit.edu	37	6	12122175	12122175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122175C>T	ENST00000379388.2	+	4	2479	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	716			T -> A (in dbSNP:rs2228210).		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGTCACCACGTCAACACCC	0.527																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2146-2148)aCg>aTg		human immunodeficiency virus type I enhancer binding protein 1							65.0	65.0	65.0					6																	12122175		2086	4202	6288	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122175C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2147C>T	6.37:g.12122175C>T	ENSP00000368698:p.Thr716Met						p.T716M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	2479	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	716		T -> A (in dbSNP:rs2228210).			B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2147C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594942	0.66219	.	.	ENSG00000095951	ENST00000379388	T	0.11821	2.74	5.81	5.81	0.92471	.	0.486110	0.15530	N	0.257524	T	0.09774	0.0240	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.49999	0.628	T	0.08638	-1.0712	9	.	.	.	-2.3451	11.9478	0.52938	0.1272:0.7349:0.1379:0.0	.	716	P15822	ZEP1_HUMAN	M	716	ENSP00000368698:T716M	.	T	+	2	0	HIVEP1	12230161	0.004000	0.15560	0.047000	0.18901	0.002000	0.02628	1.984000	0.40658	2.748000	0.94277	0.655000	0.94253	ACG		0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		24	27	0	0	0	1	0	24	27				
GALM	130589	broad.mit.edu	37	2	38960630	38960630	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38960630C>T	ENST00000272252.5	+	7	1204	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S	GALM_ENST00000410063.1_Splice_Site_p.P170S	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	318					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCCTTCACAGCCCCGCTTCCC	0.532																																						ENST00000272252.5																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.e7-1		galactose mutarotase (aldose 1-epimerase)							192.0	177.0	182.0					2																	38960630		2203	4300	6503	SO:0001630	splice_region_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38960630C>T		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.952-1C>T	2.37:g.38960630C>T						GALM_ENST00000410063.1_Splice_Site_p.P170_splice	p.P318_splice	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN			7	1204	+		all_hematologic(82;0.248)	318					Q53RY1|Q8NIA2|V9HWA8	Splice_Site	SNP	ENST00000272252.5	37	c.951_splice	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940247	0.34283	.	.	ENSG00000143891	ENST00000272252;ENST00000410063	T;T	0.49432	0.78;0.9	5.17	3.36	0.38483	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.300019	0.36591	N	0.002502	T	0.36496	0.0969	M	0.63428	1.95	0.52099	D	0.999947	P	0.35684	0.515	B	0.27262	0.078	T	0.13548	-1.0505	9	.	.	.	-8.8142	6.3076	0.21147	0.137:0.6569:0.1325:0.0736	.	318	Q96C23	GALM_HUMAN	S	318;170	ENSP00000272252:P318S;ENSP00000386233:P170S	.	P	+	1	0	GALM	38814134	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	2.111000	0.41883	0.748000	0.32831	0.655000	0.94253	CCC		0.532	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801	Missense_Mutation	33	79	0	0	0	1	0	33	79				
SPANXN1	494118	broad.mit.edu	37	X	144337285	144337285	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:144337285G>T	ENST00000370493.3	+	2	929	c.170G>T	c.(169-171)aGg>aTg	p.R57M		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	57								p.R57M(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCTACAGGAAAGCTAAG	0.438																																						ENST00000370493.3																			2	Substitution - Missense(2)	p.R57M(2)	endometrium(2)	endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(169-171)aGg>aTg		SPANX family, member N1							186.0	160.0	169.0					X																	144337285		2203	4297	6500	SO:0001583	missense	494118							g.chrX:144337285G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.170G>T	X.37:g.144337285G>T	ENSP00000359524:p.Arg57Met						p.R57M	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	929	+	Acute lymphoblastic leukemia(192;6.56e-05)		57						Missense_Mutation	SNP	ENST00000370493.3	37	c.170G>T	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	8.884	0.952233	0.18431	.	.	ENSG00000203923	ENST00000370493	T	0.12039	2.72	1.51	-0.578	0.11724	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.60345	0.873	T	0.11397	-1.0589	8	0.87932	D	0	.	4.2651	0.10759	0.4284:0.0:0.5716:0.0	.	57	Q5VSR9	SPXN1_HUMAN	M	57	ENSP00000359524:R57M	ENSP00000359524:R57M	R	+	2	0	SPANXN1	144144977	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.829000	0.01701	-0.231000	0.09825	-1.640000	0.00773	AGG		0.438	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		32	62	1	0	1.74807e-11	1	2.18057e-11	32	62				
UHRF1BP1	54887	broad.mit.edu	37	6	34802047	34802047	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34802047C>A	ENST00000192788.5	+	5	563	c.392C>A	c.(391-393)tCt>tAt	p.S131Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S131Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	131							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATTGTCAATTCTATCACCATC	0.453																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(391-393)tCt>tAt		UHRF1 binding protein 1							123.0	111.0	115.0					6																	34802047		1962	4141	6103	SO:0001583	missense	54887							g.chr6:34802047C>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.392C>A	6.37:g.34802047C>A	ENSP00000192788:p.Ser131Tyr					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S131Y	p.S131Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			5	563	+			131					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.392C>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013864	0.93404	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.10192	2.9;2.9	4.81	4.81	0.61882	.	0.061993	0.64402	D	0.000003	T	0.27832	0.0685	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.05468	-1.0883	10	0.87932	D	0	-7.1564	18.0673	0.89395	0.0:1.0:0.0:0.0	.	131	Q6BDS2	URFB1_HUMAN	Y	131	ENSP00000192788:S131Y;ENSP00000400628:S131Y	ENSP00000192788:S131Y	S	+	2	0	UHRF1BP1	34910025	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.805000	0.69143	2.507000	0.84556	0.655000	0.94253	TCT		0.453	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		8	30	1	0	0.000442599	1	0.00048047	8	30				
TBC1D2B	23102	broad.mit.edu	37	15	78317661	78317661	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78317661C>T	ENST00000300584.3	-	5	1025	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TBC1D2B_ENST00000409931.3_Silent_p.L342L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	342							Rab GTPase activator activity (GO:0005097)	p.L342L(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCTGGACCTGCAGTTGCATTT	0.532																																						ENST00000409931.3																			2	Substitution - coding silent(2)	p.L342L(2)	endometrium(2)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1024-1026)ctG>ctA		TBC1 domain family, member 2B							116.0	103.0	108.0					15																	78317661		2196	4293	6489	SO:0001819	synonymous_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78317661C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1026G>A	15.37:g.78317661C>T						TBC1D2B_ENST00000300584.3_Silent_p.L342L	p.L342L			Q9UPU7	TBD2B_HUMAN			5	1097	-			342					A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.1026G>A	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	5.343	0.248602	0.10130	.	.	ENSG00000167202	ENST00000418039	.	.	.	5.61	2.18	0.27775	.	.	.	.	.	T	0.52025	0.1709	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41016	-0.9532	4	.	.	.	.	4.9591	0.14057	0.1425:0.6243:0.1376:0.0957	.	.	.	.	Y	224	.	.	C	-	2	0	TBC1D2B	76104716	0.990000	0.36364	0.926000	0.36857	0.415000	0.31203	0.421000	0.21280	0.521000	0.28445	0.555000	0.69702	TGC		0.532	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		10	87	0	0	0	1	0	10	87				
CD37	951	broad.mit.edu	37	19	49840409	49840409	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49840409T>C	ENST00000323906.4	+	4	414	c.273T>C	c.(271-273)ttT>ttC	p.F91F	CD37_ENST00000598095.1_Silent_p.F23F|CD37_ENST00000426897.2_Silent_p.F23F|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_Silent_p.F91F|CD37_ENST00000596426.1_3'UTR	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	91					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCCAGTATTTTGGGATGCTGC	0.607																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(271-273)ttT>ttC		CD37 molecule							93.0	88.0	90.0					19																	49840409		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr19:49840409T>C		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.273T>C	19.37:g.49840409T>C						CD37_ENST00000596426.1_3'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Silent_p.F23F|CD37_ENST00000323906.4_Silent_p.F91F|CD37_ENST00000426897.2_Silent_p.F23F	p.F91F			P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	4	387	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	91					B4DVC1|Q3KPF9	Silent	SNP	ENST00000323906.4	37	c.273T>C	CCDS12760.1																																																																																				0.607	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			5	53	0	0	0	1	0	5	53				
RNF213	57674	broad.mit.edu	37	17	78314123	78314123	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78314123G>C	ENST00000582970.1	+	26	6099	c.5956G>C	c.(5956-5958)Gtt>Ctt	p.V1986L	RNF213_ENST00000508628.2_Missense_Mutation_p.V2035L|RNF213_ENST00000336301.6_Missense_Mutation_p.V59L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1986					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGGCTGTGTGTTGGGATCGT	0.687																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(5956-5958)Gtt>Ctt		ring finger protein 213							33.0	27.0	29.0					17																	78314123		2202	4299	6501	SO:0001583	missense	57674							g.chr17:78314123G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.5956G>C	17.37:g.78314123G>C	ENSP00000464087:p.Val1986Leu					RNF213_ENST00000336301.6_Missense_Mutation_p.V59L|RNF213_ENST00000508628.2_Missense_Mutation_p.V2035L	p.V1986L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		26	6099	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.5956G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938610	0.34189	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.42131	0.98	4.96	3.99	0.46301	.	0.000000	0.64402	D	0.000003	T	0.62392	0.2424	M	0.75264	2.295	0.34771	D	0.733754	D	0.64830	0.994	D	0.68353	0.957	T	0.76085	-0.3088	10	0.72032	D	0.01	.	13.7014	0.62611	0.0747:0.0:0.9253:0.0	.	59	Q63HN8	RN213_HUMAN	L	1986;2035;59	ENSP00000338218:V59L	ENSP00000338218:V59L	V	+	1	0	RNF213	75928718	1.000000	0.71417	0.747000	0.31113	0.540000	0.34992	7.670000	0.83925	1.465000	0.48006	-0.142000	0.14014	GTT		0.687	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		8	17	0	0	0	1	0	8	17				
BCS1L	617	broad.mit.edu	37	2	219527966	219527966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219527966G>A	ENST00000431802.1	+	8	1816	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392110.2_Missense_Mutation_p.A373T|BCS1L_ENST00000392109.1_Missense_Mutation_p.A373T|BCS1L_ENST00000359273.3_Missense_Mutation_p.A373T|BCS1L_ENST00000412366.1_Missense_Mutation_p.A373T|BCS1L_ENST00000392111.2_Missense_Mutation_p.A373T|BCS1L_ENST00000439945.1_Missense_Mutation_p.A373T			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	373					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGGGCAGGCACCTTCCTT	0.542																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(1117-1119)Gca>Aca		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							101.0	100.0	100.0					2																	219527966		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527966G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.1117G>A	2.37:g.219527966G>A	ENSP00000413908:p.Ala373Thr					BCS1L_ENST00000439945.1_Missense_Mutation_p.A373T|BCS1L_ENST00000392111.2_Missense_Mutation_p.A373T|BCS1L_ENST00000359273.3_Missense_Mutation_p.A373T|BCS1L_ENST00000392109.1_Missense_Mutation_p.A373T|BCS1L_ENST00000412366.1_Missense_Mutation_p.A373T|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392110.2_Missense_Mutation_p.A373T	p.A373T			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1816	+		Renal(207;0.0474)	373					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.1117G>A	CCDS2419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.938|9.938	1.216751|1.216751	0.22373|0.22373	.|.	.|.	ENSG00000074582|ENSG00000074582	ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802|ENST00000426649;ENST00000436603	D;D;D;D;D;D;D|.	0.87887|.	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31|.	5.31|5.31	3.43|3.43	0.39272|0.39272	.|.	0.493772|.	0.23351|.	N|.	0.049127|.	T|T	0.23572|0.23572	0.0570|0.0570	N|N	0.19112|0.19112	0.55|0.55	0.24455|0.24455	N|N	0.994462|0.994462	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.07829|0.07829	-1.0752|-1.0752	10|5	0.13108|.	T|.	0.6|.	-15.9968|-15.9968	6.0327|6.0327	0.19688|0.19688	0.1735:0.2818:0.5447:0.0|0.1735:0.2818:0.5447:0.0	.|.	373|.	Q9Y276|.	BCS1_HUMAN|.	T|D	373|154;118	ENSP00000352219:A373T;ENSP00000375957:A373T;ENSP00000375958:A373T;ENSP00000375959:A373T;ENSP00000406494:A373T;ENSP00000404999:A373T;ENSP00000413908:A373T|.	ENSP00000352219:A373T|.	A|G	+|+	1|2	0|0	BCS1L|BCS1L	219236210|219236210	0.969000|0.969000	0.33509|0.33509	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.912000|0.912000	0.28597|0.28597	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.542	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		22	36	0	0	0	1	0	22	36				
LRAT	9227	broad.mit.edu	37	4	155665575	155665575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665575G>T	ENST00000336356.3	+	2	350	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	LRAT_ENST00000507827.1_Missense_Mutation_p.D33Y	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	33					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CGCGGGCGAAGACAAAGGGAG	0.562																																						ENST00000336356.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16						c.(97-99)Gac>Tac		lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	Vitamin A(DB00162)						66.0	66.0	66.0					4																	155665575		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665575G>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.97G>T	4.37:g.155665575G>T	ENSP00000337224:p.Asp33Tyr					LRAT_ENST00000507827.1_Missense_Mutation_p.D33Y	p.D33Y	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN			2	350	+	all_hematologic(180;0.215)	Renal(120;0.0458)	33					A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.97G>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951571	0.34471	.	.	ENSG00000121207	ENST00000502525;ENST00000507827;ENST00000336356	T;T	0.45668	0.89;0.89	5.02	2.31	0.28768	.	0.869252	0.10469	N	0.670961	T	0.36580	0.0972	L	0.54323	1.7	0.09310	N	1	P	0.38642	0.641	B	0.34722	0.188	T	0.21381	-1.0247	10	0.62326	D	0.03	.	8.9463	0.35760	0.2924:0.0:0.7076:0.0	.	33	O95237	LRAT_HUMAN	Y	33	ENSP00000426761:D33Y;ENSP00000337224:D33Y	ENSP00000337224:D33Y	D	+	1	0	LRAT	155885025	0.743000	0.28239	0.024000	0.17045	0.837000	0.47467	2.412000	0.44609	0.695000	0.31675	0.655000	0.94253	GAC		0.562	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		28	34	1	0	6.12954e-19	1	8.01027e-19	28	34				
C8orf74	203076	broad.mit.edu	37	8	10555162	10555162	+	Missense_Mutation	SNP	C	C	T	rs374654553	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10555162C>T	ENST00000304519.5	+	3	324	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	99										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TAGAGATTACCGGGGCCATTT	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14373	0.0		0.0	False		,,,				2504	0.0					ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(295-297)Cgg>Tgg		chromosome 8 open reading frame 74		C	TRP/ARG	6,4138		0,6,2066	124.0	134.0	130.0		295	3.5	0.5	8		130	0,8404		0,0,4202	no	missense	C8orf74	NM_001040032.1	101	0,6,6268	TT,TC,CC		0.0,0.1448,0.0478	benign	99/295	10555162	6,12542	2072	4202	6274	SO:0001583	missense	203076							g.chr8:10555162C>T	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.295C>T	8.37:g.10555162C>T	ENSP00000307129:p.Arg99Trp					RP1L1_ENST00000329335.3_Intron	p.R99W	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	324	+			99					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.295C>T	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	C	7.079	0.569805	0.13560	0.001448	0.0	ENSG00000171060	ENST00000304519	T	0.31769	1.48	5.3	3.45	0.39498	.	0.741779	0.12497	N	0.463709	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	P	0.43392	0.805	B	0.20955	0.032	T	0.11494	-1.0585	10	0.72032	D	0.01	.	7.2939	0.26383	0.1647:0.5929:0.2424:0.0	.	99	Q6P047	CH074_HUMAN	W	99	ENSP00000307129:R99W	ENSP00000307129:R99W	R	+	1	2	C8orf74	10592572	0.002000	0.14202	0.460000	0.27093	0.021000	0.10359	0.912000	0.28597	1.227000	0.43598	-0.268000	0.10319	CGG		0.567	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		51	76	0	0	0	1	0	51	76				
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T	rs564272056		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(445-447)cGg>cAg		alkB, alkylation repair homolog 4 (E. coli)							24.0	25.0	25.0					7																	102098304		2202	4299	6501	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098304C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.446G>A	7.37:g.102098304C>T	ENSP00000292566:p.Arg149Gln						p.R149Q	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	485	-			149					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.446G>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681915	0.14907	.	.	ENSG00000160993	ENST00000292566	T	0.46063	0.88	4.56	-2.03	0.07365	.	0.599443	0.16196	N	0.225149	T	0.12518	0.0304	N	0.02985	-0.445	0.30285	N	0.790978	B	0.15719	0.014	B	0.08055	0.003	T	0.30995	-0.9959	10	0.09338	T	0.73	-14.5705	4.4711	0.11714	0.261:0.2274:0.0:0.5116	.	149	Q9NXW9	ALKB4_HUMAN	Q	149	ENSP00000292566:R149Q	ENSP00000292566:R149Q	R	-	2	0	ALKBH4	101885309	0.994000	0.37717	0.976000	0.42696	0.960000	0.62799	0.346000	0.19997	-0.161000	0.10983	-0.258000	0.10820	CGG		0.692	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		25	19	0	0	0	1	0	25	19				
CNR1	1268	broad.mit.edu	37	6	88853609	88853609	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88853609G>T	ENST00000537554.1	-	2	4947	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	CNR1_ENST00000549716.1_Missense_Mutation_p.S401Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S462Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.S462Y|CNR1_ENST00000369499.2_Missense_Mutation_p.S462Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S462Y|CNR1_ENST00000468898.1_Missense_Mutation_p.S429Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S462Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	462					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGTGGACACAGACATGGTTAC	0.502																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1384-1386)tCt>tAt		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						203.0	190.0	194.0					6																	88853609		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853609G>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1385C>A	6.37:g.88853609G>T	ENSP00000441046:p.Ser462Tyr					CNR1_ENST00000428600.2_Missense_Mutation_p.S462Y|CNR1_ENST00000369499.2_Missense_Mutation_p.S462Y|CNR1_ENST00000468898.1_Missense_Mutation_p.S429Y|CNR1_ENST00000549716.1_Missense_Mutation_p.S401Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.S462Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S462Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S462Y	p.S462Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4947	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	462					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1385C>A	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760987	0.69763	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.12;-1.25;-0.98	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	L	0.29908	0.895	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.986	T	0.82566	-0.0393	10	0.87932	D	0	.	20.3575	0.98842	0.0:0.0:1.0:0.0	.	429;462	P21554-3;P21554	.;CNR1_HUMAN	Y	462;462;462;462;462;429;462;401	ENSP00000358513:S462Y;ENSP00000442689:S462Y;ENSP00000441046:S462Y;ENSP00000358511:S462Y;ENSP00000446819:S462Y;ENSP00000420188:S429Y;ENSP00000412192:S462Y;ENSP00000449549:S401Y	ENSP00000358511:S462Y	S	-	2	0	CNR1	88910328	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.471000	0.97696	2.809000	0.96659	0.655000	0.94253	TCT		0.502	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			96	182	1	0	1.90054e-66	1	2.57256e-66	96	182				
NPAT	4863	broad.mit.edu	37	11	108059858	108059858	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108059858G>A	ENST00000278612.8	-	6	636	c.531C>T	c.(529-531)caC>caT	p.H177H	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	177	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTGACTGTGAGTGGTTGACCA	0.368																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(529-531)caC>caT		nuclear protein, ataxia-telangiectasia locus							91.0	89.0	89.0					11																	108059858		1891	4117	6008	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108059858G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.531C>T	11.37:g.108059858G>A							p.H177H	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	6	636	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	177			Interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.531C>T	CCDS41710.1																																																																																				0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		25	41	0	0	0	1	0	25	41				
PEAR1	375033	broad.mit.edu	37	1	156880106	156880106	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156880106A>G	ENST00000338302.3	+	15	1984	c.1759A>G	c.(1759-1761)Acc>Gcc	p.T587A	PEAR1_ENST00000292357.7_Missense_Mutation_p.T587A			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	587	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAATGGGGGCACCTGTCTCCC	0.637											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1759-1761)Acc>Gcc		platelet endothelial aggregation receptor 1							141.0	149.0	146.0					1																	156880106		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156880106A>G	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1759A>G	1.37:g.156880106A>G	ENSP00000344465:p.Thr587Ala		OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	PEAR1_ENST00000292357.7_Missense_Mutation_p.T587A	p.T587A			Q5VY43	PEAR1_HUMAN			15	1984	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		587			EGF-like 7.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.1759A>G	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945362	0.53079	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.28895	1.59;1.59	5.02	5.02	0.67125	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.51477	D	0.000099	T	0.26085	0.0636	L	0.55103	1.725	0.48185	D	0.999603	D	0.59767	0.986	P	0.51016	0.656	T	0.03086	-1.1074	10	0.44086	T	0.13	.	11.0438	0.47846	1.0:0.0:0.0:0.0	.	587	Q5VY43	PEAR1_HUMAN	A	587	ENSP00000344465:T587A;ENSP00000292357:T587A	ENSP00000292357:T587A	T	+	1	0	PEAR1	155146730	0.772000	0.28567	1.000000	0.80357	0.950000	0.60333	0.917000	0.28665	2.100000	0.63781	0.533000	0.62120	ACC		0.637	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		65	148	0	0	0	1	0	65	148				
PAPPA2	60676	broad.mit.edu	37	1	176525904	176525904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176525904G>A	ENST00000367662.3	+	2	1610	c.446G>A	c.(445-447)gGc>gAc	p.G149D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G149D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	149					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTATCTCGGCAATCAAAGA	0.552																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(445-447)gGc>gAc		pappalysin 2							92.0	97.0	95.0					1																	176525904		2138	4247	6385	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525904G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.446G>A	1.37:g.176525904G>A	ENSP00000356634:p.Gly149Asp					PAPPA2_ENST00000367661.3_Missense_Mutation_p.G149D	p.G149D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1610	+			149					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.446G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	3.889	-0.024416	0.07634	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.36878	4.56;1.23	4.63	0.342	0.15996	.	0.326534	0.20975	N	0.082314	T	0.30759	0.0775	M	0.62723	1.935	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.23904	-1.0175	10	0.52906	T	0.07	-2.0586	6.8706	0.24119	0.4516:0.0:0.5484:0.0	.	149;149	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	D	149	ENSP00000356634:G149D;ENSP00000356633:G149D	ENSP00000356633:G149D	G	+	2	0	PAPPA2	174792527	0.792000	0.28813	0.002000	0.10522	0.016000	0.09150	0.883000	0.28200	-0.233000	0.09797	-0.254000	0.11334	GGC		0.552	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			50	107	0	0	0	1	0	50	107				
TMC8	147138	broad.mit.edu	37	17	76130984	76130984	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76130984C>A	ENST00000318430.5	+	9	1395	c.1021C>A	c.(1021-1023)Cct>Act	p.P341T	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Missense_Mutation_p.P118T	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	341					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GTACCTGCCCCCTGGGGTCAT	0.647																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1021-1023)Cct>Act		transmembrane channel-like 8							70.0	63.0	65.0					17																	76130984		2203	4300	6503	SO:0001583	missense	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76130984C>A	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1021C>A	17.37:g.76130984C>A	ENSP00000325561:p.Pro341Thr					TMC8_ENST00000589691.1_Missense_Mutation_p.P118T	p.P341T	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		9	1395	+			341					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.1021C>A	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128279	0.37533	.	.	ENSG00000167895	ENST00000318430	T	0.48836	0.8	4.54	2.53	0.30540	.	0.112759	0.64402	D	0.000009	T	0.50154	0.1599	M	0.71581	2.175	0.42570	D	0.993176	B;D	0.55605	0.241;0.972	B;P	0.48304	0.206;0.573	T	0.47971	-0.9075	10	0.38643	T	0.18	-2.1956	9.7114	0.40247	0.0:0.8383:0.0:0.1617	.	341;341	A5D8Y4;Q8IU68	.;TMC8_HUMAN	T	341	ENSP00000325561:P341T	ENSP00000325561:P341T	P	+	1	0	TMC8	73642579	0.093000	0.21703	0.997000	0.53966	0.995000	0.86356	0.460000	0.21924	0.360000	0.24265	0.561000	0.74099	CCT		0.647	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			5	27	1	0	0.000602214	1	0.000649039	5	27				
PPP1R26	9858	broad.mit.edu	37	9	138379220	138379220	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138379220G>T	ENST00000356818.2	+	4	3413	c.2864G>T	c.(2863-2865)aGg>aTg	p.R955M	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R955M|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R955M	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	955					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCAGTGAGCAGGAGAAATGTT	0.657																																						ENST00000356818.2																			0											c.(2863-2865)aGg>aTg		protein phosphatase 1, regulatory subunit 26							31.0	35.0	34.0					9																	138379220		2079	4069	6148	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379220G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2864G>T	9.37:g.138379220G>T	ENSP00000349274:p.Arg955Met					PPP1R26_ENST00000604351.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R955M|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R955M	p.R955M	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3413	+			955					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2864G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144263	0.57044	.	.	ENSG00000196422	ENST00000356818	T	0.14144	2.53	5.01	-0.846	0.10734	.	0.385364	0.26598	N	0.023489	T	0.23330	0.0564	L	0.59436	1.845	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.04347	-1.0958	10	0.87932	D	0	-10.9338	6.2919	0.21065	0.3453:0.1308:0.5239:0.0	.	955	Q5T8A7	PPR26_HUMAN	M	955	ENSP00000349274:R955M	ENSP00000349274:R955M	R	+	2	0	KIAA0649	137519041	0.091000	0.21658	0.001000	0.08648	0.020000	0.10135	0.410000	0.21098	-0.071000	0.12886	0.462000	0.41574	AGG		0.657	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		28	37	1	0	4.06085e-26	1	5.40767e-26	28	37				
SV2A	9900	broad.mit.edu	37	1	149877520	149877520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149877520C>T	ENST00000369146.3	-	12	2447	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	653					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAGCAGAGCGATCATGGCC	0.547																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(1957-1959)Gct>Act		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						142.0	121.0	128.0					1																	149877520		2203	4300	6503	SO:0001583	missense	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149877520C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1957G>A	1.37:g.149877520C>T	ENSP00000358142:p.Ala653Thr					SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	p.A653T	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		12	2447	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		653					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.1957G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579672	0.86645	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.21932	1.98;1.98	4.04	4.04	0.47022	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.264125	0.36444	N	0.002584	T	0.14743	0.0356	L	0.28458	0.855	0.80722	D	1	P;D	0.61080	0.806;0.989	B;P	0.55303	0.435;0.773	T	0.03566	-1.1024	10	0.23891	T	0.37	-7.4132	13.7168	0.62702	0.0:1.0:0.0:0.0	.	105;653	B4E000;Q7L0J3	.;SV2A_HUMAN	T	653	ENSP00000358142:A653T;ENSP00000358141:A653T	ENSP00000358141:A653T	A	-	1	0	SV2A	148144144	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.484000	0.81180	2.084000	0.62774	0.297000	0.19635	GCT		0.547	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			29	80	0	0	0	1	0	29	80				
OR4X2	119764	broad.mit.edu	37	11	48267442	48267442	+	Missense_Mutation	SNP	G	G	A	rs137858399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48267442G>A	ENST00000302329.3	+	1	835	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGACAAGATGGTGGCTGTGTT	0.507																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(787-789)Gtg>Atg		olfactory receptor, family 4, subfamily X, member 2							84.0	75.0	78.0					11																	48267442		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267442G>A	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.787G>A	11.37:g.48267442G>A	ENSP00000307751:p.Val263Met						p.V263M	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	835	+			263					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.787G>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430019	0.43122	.	.	ENSG00000172208	ENST00000302329	T	0.40756	1.02	5.37	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.137355	0.33040	N	0.005356	T	0.49372	0.1553	L	0.52823	1.66	0.23758	N	0.996921	P	0.50272	0.933	P	0.57204	0.815	T	0.34775	-0.9815	10	0.49607	T	0.09	.	7.8131	0.29243	0.0873:0.0:0.7508:0.1619	.	263	Q8NGF9	OR4X2_HUMAN	M	263	ENSP00000307751:V263M	ENSP00000307751:V263M	V	+	1	0	OR4X2	48224018	0.000000	0.05858	0.875000	0.34327	0.441000	0.31987	0.392000	0.20801	0.606000	0.29965	-0.158000	0.13435	GTG		0.507	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		29	46	0	0	0	1	0	29	46				
FAM65C	140876	broad.mit.edu	37	20	49247380	49247380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49247380G>A	ENST00000327979.2	-	2	416	c.5C>T	c.(4-6)tCg>tTg	p.S2L	FAM65C_ENST00000045083.2_Missense_Mutation_p.S2L|FAM65C_ENST00000535356.1_Missense_Mutation_p.S6L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	2										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCTCACCGACATGGTGGT	0.662																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(4-6)tCg>tTg		family with sequence similarity 65, member C							28.0	22.0	24.0					20																	49247380		2199	4299	6498	SO:0001583	missense	140876							g.chr20:49247380G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.5C>T	20.37:g.49247380G>A	ENSP00000332663:p.Ser2Leu					FAM65C_ENST00000045083.2_Missense_Mutation_p.S2L|FAM65C_ENST00000535356.1_Missense_Mutation_p.S6L	p.S2L			Q96MK2	FA65C_HUMAN			2	416	-			2					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.5C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537850	0.27475	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.24908	1.86;1.86;1.83	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	T	0.40886	0.1135	L	0.56769	1.78	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.28933	-1.0028	10	0.02654	T	1	-10.4572	13.9446	0.64077	0.0:0.0:1.0:0.0	.	6;2	F5H0X2;Q96MK2	.;FA65C_HUMAN	L	2;2;6	ENSP00000332663:S2L;ENSP00000045083:S2L;ENSP00000439802:S6L	ENSP00000045083:S2L	S	-	2	0	FAM65C	48680787	0.999000	0.42202	0.995000	0.50966	0.778000	0.44026	4.426000	0.59882	2.414000	0.81942	0.561000	0.74099	TCG		0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			4	7	0	0	0	1	0	4	7				
HLF	3131	broad.mit.edu	37	17	53345266	53345266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:53345266G>A	ENST00000226067.5	+	2	743	c.270G>A	c.(268-270)gaG>gaA	p.E90E	HLF_ENST00000575345.1_Silent_p.E5E|HLF_ENST00000573945.1_Silent_p.E5E|HLF_ENST00000430986.2_Silent_p.E5E	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	90					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						ACCTGGAGGAGTTTTTGTCAG	0.582			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(268-270)gaG>gaA		hepatic leukemia factor							116.0	113.0	114.0					17																	53345266		2203	4300	6503	SO:0001819	synonymous_variant	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53345266G>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.270G>A	17.37:g.53345266G>A						HLF_ENST00000573945.1_Silent_p.E5E|HLF_ENST00000575345.1_Silent_p.E5E|HLF_ENST00000430986.2_Silent_p.E5E	p.E90E	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN			2	743	+			90					A8K1X8|Q6FHS9	Silent	SNP	ENST00000226067.5	37	c.270G>A	CCDS11585.1																																																																																				0.582	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		45	74	0	0	0	1	0	45	74				
CAT	847	broad.mit.edu	37	11	34470767	34470767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34470767G>A	ENST00000241052.4	+	2	184	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	32					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACTGGAGCTGGTAACCCAGTA	0.458																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(94-96)gGt>gAt		catalase	Fomepizole(DB01213)						90.0	86.0	88.0					11																	34470767		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34470767G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.95G>A	11.37:g.34470767G>A	ENSP00000241052:p.Gly32Asp						p.G32D	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	2	184	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	32					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.95G>A	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740323	0.89573	.	.	ENSG00000121691	ENST00000241052	D	0.94330	-3.4	5.81	5.81	0.92471	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99107	1.0845	10	0.87932	D	0	-26.273	20.0833	0.97789	0.0:0.0:1.0:0.0	.	32	P04040	CATA_HUMAN	D	32	ENSP00000241052:G32D	ENSP00000241052:G32D	G	+	2	0	CAT	34427343	1.000000	0.71417	0.081000	0.20488	0.673000	0.39480	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	GGT		0.458	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		33	44	0	0	0	1	0	33	44				
NCAPD3	23310	broad.mit.edu	37	11	134023044	134023044	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134023044G>T	ENST00000534548.2	-	34	4443	c.4379C>A	c.(4378-4380)cCt>cAt	p.P1460H	NCAPD3_ENST00000526787.2_Intron	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1460					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CGGTTTATCAGGCAGTGATAA	0.433																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4378-4380)cCt>cAt		non-SMC condensin II complex, subunit D3							154.0	150.0	151.0					11																	134023044		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134023044G>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4379C>A	11.37:g.134023044G>T	ENSP00000433681:p.Pro1460His					NCAPD3_ENST00000526787.2_Intron	p.P1460H	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	34	4443	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1460					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4379C>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091880	0.36952	.	.	ENSG00000151503	ENST00000534548	T	0.38722	1.12	5.77	3.87	0.44632	.	0.322330	0.33419	N	0.004934	T	0.53142	0.1778	L	0.54323	1.7	0.48762	D	0.9997	D	0.89917	1.0	D	0.69142	0.962	T	0.53049	-0.8493	10	0.72032	D	0.01	-12.6852	6.7206	0.23328	0.148:0.0:0.7072:0.1447	.	1460	P42695	CNDD3_HUMAN	H	1460	ENSP00000433681:P1460H	ENSP00000433681:P1460H	P	-	2	0	NCAPD3	133528254	0.997000	0.39634	0.253000	0.24343	0.306000	0.27790	2.701000	0.47094	0.864000	0.35578	0.655000	0.94253	CCT		0.433	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		15	160	1	0	3.27435e-08	1	3.90559e-08	15	160				
ARHGAP29	9411	broad.mit.edu	37	1	94685814	94685814	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94685814C>T	ENST00000260526.6	-	3	522	c.340G>A	c.(340-342)Gct>Act	p.A114T	ARHGAP29_ENST00000370217.3_Splice_Site_p.A114T	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	114					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCCTTACCTTTCACTTTT	0.368																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.e3+1		Rho GTPase activating protein 29							132.0	128.0	129.0					1																	94685814		2203	4300	6503	SO:0001630	splice_region_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94685814C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.340+1G>A	1.37:g.94685814C>T						ARHGAP29_ENST00000370217.3_Splice_Site_p.A114_splice	p.A114_splice	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	3	522	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	114					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Splice_Site	SNP	ENST00000260526.6	37	c.340_splice	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082016	0.94050	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.25579	1.79;1.81	5.67	5.67	0.87782	.	0.000000	0.37348	N	0.002133	T	0.37128	0.0992	L	0.50333	1.59	0.45194	D	0.998202	D;D	0.76494	0.996;0.999	D;D	0.76071	0.987;0.968	T	0.01844	-1.1262	9	.	.	.	-15.0065	17.5444	0.87857	0.0:1.0:0.0:0.0	.	114;114	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	T	114	ENSP00000260526:A114T;ENSP00000359237:A114T	.	A	-	1	0	ARHGAP29	94458402	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.589000	0.67523	2.666000	0.90696	0.655000	0.94253	GCT		0.368	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	Missense_Mutation	13	160	0	0	0	1	0	13	160				
TIGD5	84948	broad.mit.edu	37	8	144681088	144681088	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144681088G>T	ENST00000504548.2	+	1	1015	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.G290C|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	339	DDE 1.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ATTTGTCCCAGGCGTCAAACG	0.677																																						ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1015-1017)Ggc>Tgc		tigger transposable element derived 5							8.0	11.0	10.0					8																	144681088		2146	4250	6396	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681088G>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1015G>T	8.37:g.144681088G>T	ENSP00000421489:p.Gly339Cys					TIGD5_ENST00000321385.3_Missense_Mutation_p.G290C	p.G339C	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1015	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		339					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1015G>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	7.515	0.655514	0.14580	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.41758	0.99;0.99	4.61	4.61	0.57282	.	0.234104	0.28382	U	0.015545	T	0.29321	0.0730	N	0.16478	0.41	0.23076	N	0.998331	P	0.39022	0.655	B	0.39876	0.312	T	0.15896	-1.0421	10	0.34782	T	0.22	.	13.1781	0.59639	0.0:0.0:0.8403:0.1597	.	290	Q53EQ6	TIGD5_HUMAN	C	339;290	ENSP00000421489:G339C;ENSP00000315906:G290C	ENSP00000315906:G290C	G	+	1	0	TIGD5	144752231	1.000000	0.71417	0.688000	0.30117	0.148000	0.21650	4.225000	0.58600	2.103000	0.63969	0.561000	0.74099	GGC		0.677	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		3	12	1	0	0.004672	1	0.0049138	3	12				
ITPKB	3707	broad.mit.edu	37	1	226822474	226822474	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226822474G>A	ENST00000272117.3	-	7	2738	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	ITPKB_ENST00000429204.1_Silent_p.D913D			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	913					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCAGGGGACGTCATGCTGCA	0.607																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2737-2739)gaC>gaT		inositol-trisphosphate 3-kinase B							86.0	68.0	74.0					1																	226822474		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226822474G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2739C>T	1.37:g.226822474G>A						ITPKB_ENST00000272117.3_Silent_p.D913D	p.D913D	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			8	3066	-		Prostate(94;0.0773)	913					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.2739C>T	CCDS1555.1																																																																																				0.607	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		11	14	0	0	0	1	0	11	14				
ACTL6B	51412	broad.mit.edu	37	7	100244418	100244418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100244418C>T	ENST00000160382.5	-	11	1079	c.973G>A	c.(973-975)Gtg>Atg	p.V325M		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	325					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGGTCACCACGTGGCCCACA	0.652																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(973-975)Gtg>Atg		actin-like 6B							50.0	48.0	48.0					7																	100244418		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100244418C>T	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.973G>A	7.37:g.100244418C>T	ENSP00000160382:p.Val325Met						p.V325M	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			11	1079	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		325					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.973G>A	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349337	0.41599	.	.	ENSG00000077080	ENST00000160382	D	0.94497	-3.44	5.56	5.56	0.83823	.	0.086125	0.45361	D	0.000370	D	0.95262	0.8463	L	0.31065	0.9	0.54753	D	0.999982	D	0.89917	1.0	D	0.77557	0.99	D	0.95805	0.8836	10	0.66056	D	0.02	.	17.0184	0.86427	0.0:1.0:0.0:0.0	.	325	O94805	ACL6B_HUMAN	M	325	ENSP00000160382:V325M	ENSP00000160382:V325M	V	-	1	0	ACTL6B	100082354	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.225000	0.78051	2.608000	0.88229	0.655000	0.94253	GTG		0.652	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		9	41	0	0	0	1	0	9	41				
NNAT	4826	broad.mit.edu	37	20	36151087	36151087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36151087C>T	ENST00000062104.2	+	3	289	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	NNAT_ENST00000346199.2_Nonsense_Mutation_p.Q31*|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397134.1_5'Flank	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	58					brain development (GO:0007420)|neuron differentiation (GO:0030182)|positive regulation of insulin secretion (GO:0032024)|protein lipoylation (GO:0009249)|regulation of protein localization (GO:0032880)|response to glucose (GO:0009749)|transport (GO:0006810)	cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GTACTCCCTGCAGAAGCTGGC	0.692																																						ENST00000062104.2																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(172-174)Cag>Tag		neuronatin							57.0	42.0	47.0					20																	36151087		2203	4300	6503	SO:0001587	stop_gained	4826				brain development|protein lipoylation|transport			g.chr20:36151087C>T		CCDS13296.1, CCDS13297.1	20q11.2-q12	2007-12-07			ENSG00000053438	ENSG00000053438			7860	protein-coding gene	gene with protein product		603106				8660979	Standard	NM_005386		Approved	Peg5	uc002xhd.3	Q16517	OTTHUMG00000032420	ENST00000062104.2:c.172C>T	20.37:g.36151087C>T	ENSP00000062104:p.Gln58*					BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000467603.1_Intron|NNAT_ENST00000346199.2_Nonsense_Mutation_p.Q31*	p.Q58*	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN			3	289	+		Myeloproliferative disorder(115;0.00878)	58					B2R558|E1P5V6|Q16596|Q5U0N3	Nonsense_Mutation	SNP	ENST00000062104.2	37	c.172C>T	CCDS13296.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352625	0.82132	.	.	ENSG00000053438	ENST00000062104;ENST00000346199	.	.	.	5.0	4.06	0.47325	.	0.000000	0.45126	D	0.000385	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.7755	8.6776	0.34189	0.0:0.8997:0.0:0.1003	.	.	.	.	X	58;31	.	ENSP00000062104:Q58X	Q	+	1	0	NNAT	35584501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.515000	0.35845	2.780000	0.95670	0.644000	0.83932	CAG		0.692	NNAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079116.2	NM_005386		4	6	0	0	0	1	0	4	6				
PTGFR	5737	broad.mit.edu	37	1	78958942	78958942	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958942C>A	ENST00000370757.3	+	2	751	c.514C>A	c.(514-516)Ctt>Att	p.L172I	PTGFR_ENST00000370756.3_Missense_Mutation_p.L172I|PTGFR_ENST00000370758.1_Missense_Mutation_p.L172I	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	172					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GCTGCCCATCCTTGGACATCG	0.373																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(514-516)Ctt>Att		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						170.0	170.0	170.0					1																	78958942		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958942C>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.514C>A	1.37:g.78958942C>A	ENSP00000359793:p.Leu172Ile					PTGFR_ENST00000370758.1_Missense_Mutation_p.L172I|PTGFR_ENST00000370757.3_Missense_Mutation_p.L172I	p.L172I	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	751	+			172					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.514C>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971943	0.53614	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.72505	-0.66;-0.66;-0.66	5.85	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.199106	0.44688	D	0.000429	T	0.48696	0.1514	L	0.48642	1.525	0.44462	D	0.997394	B;P	0.36789	0.239;0.57	B;B	0.34385	0.172;0.181	T	0.58284	-0.7663	10	0.52906	T	0.07	-15.8351	11.4218	0.49987	0.0:0.806:0.1264:0.0676	.	172;172	P43088;P43088-2	PF2R_HUMAN;.	I	172	ENSP00000359794:L172I;ENSP00000359793:L172I;ENSP00000359792:L172I	ENSP00000359792:L172I	L	+	1	0	PTGFR	78731530	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	1.820000	0.39032	1.631000	0.50456	0.655000	0.94253	CTT		0.373	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		14	182	1	0	2.32078e-09	1	2.82054e-09	14	182				
ANO3	63982	broad.mit.edu	37	11	26556046	26556046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26556046C>T	ENST00000256737.3	+	9	1765	c.913C>T	c.(913-915)Cga>Tga	p.R305*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.R159*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.R289*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.R289*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	305					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATGCTACTCGAAGCAGAAT	0.348																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(913-915)Cga>Tga		anoctamin 3							98.0	97.0	97.0					11																	26556046		2203	4300	6503	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26556046C>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.913C>T	11.37:g.26556046C>T	ENSP00000256737:p.Arg305*					ANO3_ENST00000531568.1_Nonsense_Mutation_p.R159*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.R289*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.R289*	p.R305*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			9	1765	+			305					B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.913C>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	38	7.200713	0.98132	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.03	2.97	0.34412	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2679	0.49120	0.6065:0.3935:0.0:0.0	.	.	.	.	X	289;289;305;207;159	.	ENSP00000256737:R305X	R	+	1	2	ANO3	26512622	0.999000	0.42202	0.999000	0.59377	0.975000	0.68041	3.440000	0.52886	1.121000	0.41925	-0.488000	0.04728	CGA		0.348	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		22	53	0	0	0	1	0	22	53				
PIGG	54872	broad.mit.edu	37	4	515627	515627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:515627C>T	ENST00000453061.2	+	8	1617	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PIGG_ENST00000509768.1_Missense_Mutation_p.S415L|PIGG_ENST00000504346.1_Missense_Mutation_p.S415L|PIGG_ENST00000310340.5_Missense_Mutation_p.S496L|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.S371L|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	504					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGTGGCCTCTCGTGGCTGGCG	0.562																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(1510-1512)tCg>tTg		phosphatidylinositol glycan anchor biosynthesis, class G							134.0	117.0	123.0					4																	515627		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:515627C>T		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1511C>T	4.37:g.515627C>T	ENSP00000415203:p.Ser504Leu					PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.S415L|PIGG_ENST00000310340.5_Missense_Mutation_p.S496L|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000509768.1_Missense_Mutation_p.S415L|PIGG_ENST00000383028.4_Missense_Mutation_p.S371L	p.S504L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			8	1617	+			504					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.1511C>T	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256752	0.59321	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000509768	T;T;T;T;T	0.32023	3.23;3.26;2.94;2.94;1.47	5.84	5.0	0.66597	.	0.542520	0.22293	N	0.061971	T	0.43389	0.1245	M	0.65975	2.015	0.80722	D	1	D;P;D;P	0.64830	0.994;0.931;0.99;0.71	P;B;P;B	0.56514	0.8;0.212;0.565;0.118	T	0.35176	-0.9799	10	0.11182	T	0.66	.	12.7673	0.57399	0.0:0.9207:0.0:0.0793	.	371;415;504;496	Q5H8A4-3;D6RFE8;Q5H8A4;Q5H8A4-2	.;.;PIGG_HUMAN;.	L	496;504;415;371;415	ENSP00000311750:S496L;ENSP00000415203:S504L;ENSP00000424800:S415L;ENSP00000372494:S371L;ENSP00000421550:S415L	ENSP00000311750:S496L	S	+	2	0	PIGG	505627	0.881000	0.30235	0.034000	0.17996	0.306000	0.27790	5.173000	0.65010	1.483000	0.48342	-0.258000	0.10820	TCG		0.562	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		5	43	0	0	0	1	0	5	43				
DMXL1	1657	broad.mit.edu	37	5	118556191	118556191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556191G>A	ENST00000311085.8	+	35	8055	c.7975G>A	c.(7975-7977)Gct>Act	p.A2659T	DMXL1_ENST00000539542.1_Missense_Mutation_p.A2680T|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATAGCAATCGCTTCCAGTCA	0.373																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7975-7977)Gct>Act		Dmx-like 1							88.0	85.0	86.0					5																	118556191		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118556191G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7975G>A	5.37:g.118556191G>A	ENSP00000309690:p.Ala2659Thr					DMXL1_ENST00000539542.1_Missense_Mutation_p.A2680T|DMXL1_ENST00000505312.1_3'UTR	p.A2659T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	35	8055	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2659						Missense_Mutation	SNP	ENST00000311085.8	37	c.7975G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552738	0.96501	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.19105	2.22;2.17	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.971	T	0.55360	-0.8153	10	0.87932	D	0	-17.1	19.6466	0.95778	0.0:0.0:1.0:0.0	.	2680;2659	F5H269;Q9Y485	.;DMXL1_HUMAN	T	2659;2680	ENSP00000309690:A2659T;ENSP00000439479:A2680T	ENSP00000309690:A2659T	A	+	1	0	DMXL1	118584090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.196000	0.94978	2.650000	0.89964	0.557000	0.71058	GCT		0.373	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		18	27	0	0	0	1	0	18	27				
LY6E	4061	broad.mit.edu	37	8	144102376	144102376	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144102376T>G	ENST00000520466.1	+	3	423	c.20T>G	c.(19-21)gTg>gGg	p.V7G	LY6E_ENST00000519611.1_Missense_Mutation_p.V7G|LY6E_ENST00000522971.1_Missense_Mutation_p.V7G|LY6E_ENST00000521003.1_Missense_Mutation_p.V7G|LY6E_ENST00000520531.1_Missense_Mutation_p.V7G|LY6E_ENST00000517503.1_Missense_Mutation_p.S101R|LY6E_ENST00000522528.1_Missense_Mutation_p.V7G|LY6E_ENST00000523847.1_Missense_Mutation_p.V7G|LY6E_ENST00000522024.1_Missense_Mutation_p.V7G|LY6E_ENST00000521182.1_Missense_Mutation_p.V7G|LY6E_ENST00000521699.1_Missense_Mutation_p.V7G|LY6E_ENST00000292494.6_Missense_Mutation_p.V7G|RP11-273G15.2_ENST00000502167.2_lincRNA|LY6E_ENST00000429120.2_Missense_Mutation_p.V7G|LY6E_ENST00000519546.1_Missense_Mutation_p.V7G			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	7					adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTCTTGCCAGTGCTGCTGGCT	0.612																																						ENST00000520466.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(19-21)gTg>gGg		lymphocyte antigen 6 complex, locus E							117.0	93.0	102.0					8																	144102376		2203	4300	6503	SO:0001583	missense	4061				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane		g.chr8:144102376T>G	U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"""retinoic acid induced gene E"""	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.20T>G	8.37:g.144102376T>G	ENSP00000428572:p.Val7Gly					LY6E_ENST00000521182.1_Missense_Mutation_p.V7G|LY6E_ENST00000517503.1_Missense_Mutation_p.S101R|LY6E_ENST00000522024.1_Missense_Mutation_p.V7G|LY6E_ENST00000522971.1_Missense_Mutation_p.V7G|LY6E_ENST00000522528.1_Missense_Mutation_p.V7G|LY6E_ENST00000520531.1_Missense_Mutation_p.V7G|LY6E_ENST00000292494.6_Missense_Mutation_p.V7G|LY6E_ENST00000429120.2_Missense_Mutation_p.V7G|LY6E_ENST00000521003.1_Missense_Mutation_p.V7G|LY6E_ENST00000519611.1_Missense_Mutation_p.V7G|LY6E_ENST00000519546.1_Missense_Mutation_p.V7G|LY6E_ENST00000523847.1_Missense_Mutation_p.V7G|LY6E_ENST00000521699.1_Missense_Mutation_p.V7G	p.V7G			Q16553	LY6E_HUMAN			3	423	+	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		7					B2R4X5|D3DWJ2|Q0VDE5	Missense_Mutation	SNP	ENST00000520466.1	37	c.20T>G	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	t	9.937	1.216425	0.22373	.	.	ENSG00000160932	ENST00000517503;ENST00000292494;ENST00000429120;ENST00000521699;ENST00000520531;ENST00000520466;ENST00000521003;ENST00000522528;ENST00000522971;ENST00000519611;ENST00000521182;ENST00000519546;ENST00000523847;ENST00000522024	D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	3.92	3.92	0.45320	.	0.538685	0.15089	N	0.281179	T	0.80138	0.4568	L	0.58101	1.795	0.48696	D	0.999692	P	0.48911	0.917	B	0.42882	0.401	T	0.81004	-0.1129	10	0.87932	D	0	-4.5395	9.4849	0.38924	0.0:0.0:0.0:1.0	.	7	Q16553	LY6E_HUMAN	G	7	ENSP00000292494:V7G;ENSP00000414307:V7G;ENSP00000427915:V7G;ENSP00000428572:V7G;ENSP00000428169:V7G;ENSP00000428159:V7G;ENSP00000428442:V7G	ENSP00000292494:V7G	V	+	2	0	LY6E	144173751	0.576000	0.26700	0.747000	0.31113	0.147000	0.21601	1.036000	0.30228	1.556000	0.49512	0.533000	0.62120	GTG		0.612	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	NM_001127213		19	30	0	0	0	1	0	19	30				
MEIS2	4212	broad.mit.edu	37	15	37329158	37329158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37329158C>T	ENST00000561208.1	-	8	1175	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MEIS2_ENST00000557796.2_Missense_Mutation_p.D240N|MEIS2_ENST00000444725.1_Missense_Mutation_p.D253N|MEIS2_ENST00000382766.2_Missense_Mutation_p.D253N|MEIS2_ENST00000340545.5_Missense_Mutation_p.D240N|MEIS2_ENST00000559085.1_Missense_Mutation_p.D240N|MEIS2_ENST00000559561.1_Missense_Mutation_p.D253N|MEIS2_ENST00000338564.5_Missense_Mutation_p.D253N|MEIS2_ENST00000219869.9_Missense_Mutation_p.D107N|MEIS2_ENST00000424352.2_Missense_Mutation_p.D253N|MEIS2_ENST00000397620.2_Missense_Mutation_p.D165N|MEIS2_ENST00000397624.3_Missense_Mutation_p.D165N			O14770	MEIS2_HUMAN	Meis homeobox 2	253	Asp/Glu-rich (acidic).				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCTAAACCATCCCCTAGTAGA	0.408																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(757-759)Gat>Aat		Meis homeobox 2							125.0	112.0	116.0					15																	37329158		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37329158C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.757G>A	15.37:g.37329158C>T	ENSP00000453793:p.Asp253Asn					MEIS2_ENST00000397620.2_Missense_Mutation_p.D165N|MEIS2_ENST00000559561.1_Missense_Mutation_p.D253N|MEIS2_ENST00000557796.2_Missense_Mutation_p.D240N|MEIS2_ENST00000397624.3_Missense_Mutation_p.D165N|MEIS2_ENST00000444725.1_Missense_Mutation_p.D253N|MEIS2_ENST00000219869.9_Missense_Mutation_p.D107N|MEIS2_ENST00000424352.2_Missense_Mutation_p.D253N|MEIS2_ENST00000559085.1_Missense_Mutation_p.D240N|MEIS2_ENST00000340545.5_Missense_Mutation_p.D240N|MEIS2_ENST00000561208.1_Missense_Mutation_p.D253N|MEIS2_ENST00000382766.2_Missense_Mutation_p.D253N	p.D253N	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	9	1203	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	253			Asp/Glu-rich (acidic).		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.757G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817605	0.50633	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;D;D;D;D;D;D;D	0.88896	1.88;-2.22;-2.22;-2.12;-2.19;-2.19;-2.19;-2.44	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.79926	2.475	0.80722	D	1	B;P;P;B;P;P;D;B	0.69078	0.085;0.729;0.945;0.254;0.884;0.895;0.997;0.178	B;B;P;B;B;P;D;B	0.83275	0.032;0.413;0.621;0.139;0.277;0.573;0.996;0.103	D	0.95049	0.8185	10	0.66056	D	0.02	-9.5369	18.9599	0.92674	0.0:1.0:0.0:0.0	.	240;253;253;253;253;107;165;240	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	N	253;253;253;253;253;240;240;165;107	ENSP00000326296:D253N;ENSP00000341400:D253N;ENSP00000372216:D253N;ENSP00000404185:D253N;ENSP00000391887:D253N;ENSP00000339549:D240N;ENSP00000380745:D165N;ENSP00000219869:D107N	ENSP00000219869:D107N	D	-	1	0	MEIS2	35116450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.556000	0.86216	0.650000	0.86243	GAT		0.408	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		29	55	0	0	0	1	0	29	55				
KIF12	113220	broad.mit.edu	37	9	116854674	116854674	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116854674C>A	ENST00000374118.3	-	15	1578	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	580					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGGTACCACCTCCTCCTCCG	0.602																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1339-1341)gaG>gaT		kinesin family member 12							77.0	74.0	75.0					9																	116854674		2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116854674C>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1341G>T	9.37:g.116854674C>A	ENSP00000363232:p.Glu447Asp						p.E447D	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			15	1578	-			580					Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.1341G>T	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059934	0.36373	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.76578	-1.03	4.68	1.68	0.24146	.	0.214335	0.32459	N	0.006065	T	0.60287	0.2257	L	0.27053	0.805	0.27271	N	0.95837	P	0.37525	0.598	B	0.34824	0.19	T	0.54879	-0.8227	10	0.56958	D	0.05	.	6.5362	0.22355	0.0:0.6533:0.0:0.3467	.	580	Q96FN5	KIF12_HUMAN	D	447;580	ENSP00000363232:E447D	ENSP00000259410:E580D	E	-	3	2	KIF12	115894495	0.811000	0.29063	0.998000	0.56505	0.646000	0.38490	-0.053000	0.11846	0.226000	0.20979	0.563000	0.77884	GAG		0.602	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		10	94	1	0	0.00829132	1	0.00869385	10	94				
GPR113	165082	broad.mit.edu	37	2	26532842	26532842	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26532842G>T	ENST00000311519.1	-	13	3209	c.3210C>A	c.(3208-3210)tcC>tcA	p.S1070S	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000459892.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1070					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTCTGAGGAGGGCCATG	0.552																																						ENST00000311519.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(3208-3210)tcC>tcA		G protein-coupled receptor 113							46.0	46.0	46.0					2																	26532842		692	1591	2283	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26532842G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3210C>A	2.37:g.26532842G>T						GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000459892.1_Intron	p.S1070S	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN			13	3209	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1070					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.3210C>A	CCDS46239.1																																																																																				0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		17	19	1	0	2.23348e-06	1	2.57349e-06	17	19				
ATP2C1	27032	broad.mit.edu	37	3	130714955	130714955	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130714955C>T	ENST00000510168.1	+	23	2676	c.2126C>T	c.(2125-2127)aCg>aTg	p.T709M	ATP2C1_ENST00000513801.1_Splice_Site_p.T693M|ATP2C1_ENST00000504948.1_Splice_Site_p.T693M|ATP2C1_ENST00000328560.8_Splice_Site_p.T709M|ATP2C1_ENST00000422190.2_Splice_Site_p.T709M|ATP2C1_ENST00000393221.4_Splice_Site_p.T743M|ATP2C1_ENST00000505330.1_Splice_Site_p.T693M|ATP2C1_ENST00000507488.2_Splice_Site_p.T693M|ATP2C1_ENST00000533801.2_Splice_Site_p.T704M|ATP2C1_ENST00000508532.1_Splice_Site_p.T709M|ATP2C1_ENST00000428331.2_Splice_Site_p.T709M|ATP2C1_ENST00000359644.3_Splice_Site_p.T709M|ATP2C1_ENST00000504381.1_Splice_Site_p.T654M			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	709			T -> M (in HHD). {ECO:0000269|PubMed:10615129}.		actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGCTGAGCACGTAAGTTTGC	0.328									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39	GRCh37	CM000044	ATP2C1	M		c.e23+1		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						81.0	94.0	90.0					3																	130714955		2203	4300	6503	SO:0001630	splice_region_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130714955C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2126+1C>T	3.37:g.130714955C>T						ATP2C1_ENST00000428331.2_Splice_Site_p.T709_splice|ATP2C1_ENST00000513801.1_Splice_Site_p.T693_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.T693_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.T709_splice|ATP2C1_ENST00000533801.2_Splice_Site_p.T704_splice|ATP2C1_ENST00000422190.2_Splice_Site_p.T709_splice|ATP2C1_ENST00000393221.4_Splice_Site_p.T743_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.T693_splice|ATP2C1_ENST00000504381.1_Splice_Site_p.T654_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.T709_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.T709_splice|ATP2C1_ENST00000504948.1_Splice_Site_p.T693_splice	p.T709_splice			P98194	AT2C1_HUMAN			23	2676	+			709		T -> M (in HHD).			B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Splice_Site	SNP	ENST00000510168.1	37	c.2126_splice	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.037019|5.037019	0.93630|0.93630	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97811	.|-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55	5.75|5.75	5.75|5.75	0.90469|0.90469	.|ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99137	.|0.9702	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.998;1.0;0.998;1.0;1.0	.|D	.|0.99229	.|1.0881	.|10	.|0.72032	.|D	.|0.01	.|.	19.9312|19.9312	0.97120|0.97120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|743;704;743;709;743;709;709	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	X|M	663;227|693;654;693;743;704;709;709;693;693;709;709;709;709;708	.|ENSP00000423774:T693M;ENSP00000425320:T654M;ENSP00000421326:T693M;ENSP00000376914:T743M;ENSP00000432956:T704M;ENSP00000427461:T709M;ENSP00000424783:T709M;ENSP00000423330:T693M;ENSP00000422872:T693M;ENSP00000329664:T709M;ENSP00000395809:T709M;ENSP00000352665:T709M;ENSP00000402677:T709M	.|ENSP00000329664:T709M	R|T	+|+	1|2	2|0	ATP2C1|ATP2C1	132197645|132197645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.681000|7.681000	0.84073|0.84073	2.720000|2.720000	0.93068|0.93068	0.491000|0.491000	0.48974|0.48974	CGA|ACG		0.328	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	Missense_Mutation	6	116	0	0	0	1	0	6	116				
AACS	65985	broad.mit.edu	37	12	125587292	125587292	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125587292A>C	ENST00000316519.6	+	6	844	c.638A>C	c.(637-639)aAt>aCt	p.N213T	AACS_ENST00000261686.6_Missense_Mutation_p.N213T|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	213					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTTGTCTATAATGGCAAAGAG	0.517																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(637-639)aAt>aCt		acetoacetyl-CoA synthetase							149.0	160.0	156.0					12																	125587292		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125587292A>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.638A>C	12.37:g.125587292A>C	ENSP00000324842:p.Asn213Thr					AACS_ENST00000261686.6_Missense_Mutation_p.N213T	p.N213T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	6	844	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		213					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.638A>C	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380604	0.61845	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537477;ENST00000441247	T;T;T;T	0.50277	2.9;2.9;0.75;0.75	5.11	5.11	0.69529	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.78615	-0.2135	10	0.62326	D	0.03	.	14.7507	0.69522	1.0:0.0:0.0:0.0	.	213;213	Q86V21-2;Q86V21	.;AACS_HUMAN	T	213;213;69;44;32	ENSP00000324842:N213T;ENSP00000261686:N213T;ENSP00000439931:N44T;ENSP00000392967:N32T	ENSP00000261686:N213T	N	+	2	0	AACS	124153245	1.000000	0.71417	0.755000	0.31263	0.300000	0.27592	8.213000	0.89758	2.135000	0.66039	0.528000	0.53228	AAT		0.517	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		78	104	0	0	0	1	0	78	104				
PRUNE2	158471	broad.mit.edu	37	9	79321301	79321301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79321301C>A	ENST00000376718.3	-	8	6012	c.5889G>T	c.(5887-5889)atG>atT	p.M1963I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.M1604I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1963					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGACTGGCAGCATGGTGTCCT	0.438																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4810-4812)atG>atT		prune homolog 2 (Drosophila)							127.0	112.0	117.0					9																	79321301		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321301C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5889G>T	9.37:g.79321301C>A	ENSP00000365908:p.Met1963Ile					PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1963I	p.M1604I			Q8WUY3	PRUN2_HUMAN			8	6012	-			1963					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4812G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.953|2.953	-0.216340|-0.216340	0.06101|0.06101	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.44482	.|0.92;0.93	6.04|6.04	1.94|1.94	0.25998|0.25998	.|.	.|1.891350	.|0.02565	.|N	.|0.097158	T|T	0.35941|0.35941	0.0949|0.0949	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|B	.|0.20164	.|0.042	.|B	.|0.13407	.|0.009	T|T	0.16897|0.16897	-1.0387|-1.0387	5|10	.|0.38643	.|T	.|0.18	4.2329|4.2329	6.1911|6.1911	0.20524|0.20524	0.1186:0.6075:0.0:0.274|0.1186:0.6075:0.0:0.274	.|.	.|1963	.|Q8WUY3	.|PRUN2_HUMAN	S|I	1285|1963;1604;1962	.|ENSP00000365908:M1963I;ENSP00000397425:M1604I	.|ENSP00000365908:M1963I	A|M	-|-	1|3	0|0	PRUNE2|PRUNE2	78511121|78511121	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.300000|0.300000	0.19156|0.19156	0.407000|0.407000	0.25591|0.25591	0.561000|0.561000	0.74099|0.74099	GCT|ATG		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		9	99	1	0	0.0692343	1	0.0706532	9	99				
PTDSS1	9791	broad.mit.edu	37	8	97345702	97345702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97345702C>T	ENST00000517309.1	+	13	1656	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	PTDSS1_ENST00000522072.1_Missense_Mutation_p.P241S|PTDSS1_ENST00000455950.2_Missense_Mutation_p.P298S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	444					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGACAGCCCACCCAAGCATGC	0.527											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1330-1332)Ccc>Tcc		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						190.0	176.0	181.0					8																	97345702		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97345702C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1330C>T	8.37:g.97345702C>T	ENSP00000430548:p.Pro444Ser		OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1327	PTDSS1_ENST00000522072.1_Missense_Mutation_p.P241S|PTDSS1_ENST00000455950.2_Missense_Mutation_p.P298S	p.P444S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			13	1656	+	Breast(36;6.18e-05)		444					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1330C>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508108	0.44660	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.45276	1.04;1.05;0.9	5.41	5.41	0.78517	.	0.220979	0.40222	N	0.001145	T	0.29190	0.0726	N	0.22421	0.69	0.43857	D	0.996456	B	0.17038	0.02	B	0.15052	0.012	T	0.09422	-1.0675	10	0.10902	T	0.67	-13.2221	16.1083	0.81241	0.0:1.0:0.0:0.0	.	444	P48651	PTSS1_HUMAN	S	444;298;241	ENSP00000430548:P444S;ENSP00000401248:P298S;ENSP00000430928:P241S	ENSP00000401248:P298S	P	+	1	0	PTDSS1	97414878	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.329000	0.59260	2.515000	0.84797	0.655000	0.94253	CCC		0.527	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			59	84	0	0	0	1	0	59	84				
HRC	3270	broad.mit.edu	37	19	49658019	49658019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658019C>A	ENST00000252825.4	-	1	662	c.476G>T	c.(475-477)aGc>aTc	p.S159I	HRC_ENST00000595625.1_Missense_Mutation_p.S159I|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	159	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTCTTGATGGCTGTGGCTCCT	0.587																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(475-477)aGc>aTc		histidine rich calcium binding protein							206.0	152.0	170.0					19																	49658019		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658019C>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.476G>T	19.37:g.49658019C>A	ENSP00000252825:p.Ser159Ile					HRC_ENST00000595625.1_Missense_Mutation_p.S159I	p.S159I	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	662	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	159			4 X tandem repeats, acidic.|6 X approximate tandem repeats.		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.476G>T	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.445042	0.43429	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.07567	3.18	2.35	1.26	0.21427	.	.	.	.	.	T	0.10981	0.0268	L	0.58101	1.795	0.09310	N	1	D	0.55385	0.971	P	0.47299	0.543	T	0.19353	-1.0308	9	0.49607	T	0.09	1.49	4.762	0.13113	0.0:0.6878:0.0:0.3122	.	159	P23327	SRCH_HUMAN	I	159;129	ENSP00000252825:S159I	ENSP00000252825:S159I	S	-	2	0	HRC	54349831	0.049000	0.20398	0.006000	0.13384	0.163000	0.22366	0.861000	0.27885	0.514000	0.28300	0.462000	0.41574	AGC		0.587	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		9	44	1	0	1.08611e-07	1	1.2824e-07	9	44				
CA7	766	broad.mit.edu	37	16	66886638	66886638	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66886638C>T	ENST00000338437.2	+	6	649	c.540C>T	c.(538-540)tgC>tgT	p.C180C	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_Silent_p.C124C	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	180					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	AGTTCAGCTGCTTCAACCCCA	0.592																																						ENST00000394069.3																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(370-372)tgC>tgT		carbonic anhydrase VII							59.0	54.0	56.0					16																	66886638		2200	4300	6500	SO:0001819	synonymous_variant	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66886638C>T		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.540C>T	16.37:g.66886638C>T						CA7_ENST00000338437.2_Silent_p.C180C|RP11-61A14.1_ENST00000551187.1_RNA	p.C124C	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	6	803	+		Ovarian(137;0.0563)	180					Q541F0|Q86YU0	Silent	SNP	ENST00000338437.2	37	c.372C>T	CCDS10821.1																																																																																				0.592	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			15	32	0	0	0	1	0	15	32				
PSMD3	5709	broad.mit.edu	37	17	38151521	38151521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38151521C>T	ENST00000264639.4	+	8	1363	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	PSMD3_ENST00000541736.1_Missense_Mutation_p.R259W	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	397	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCTAATTATCCGGCTGCGGCA	0.547																																					Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1189-1191)Cgg>Tgg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3							161.0	157.0	158.0					17																	38151521		2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38151521C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1189C>T	17.37:g.38151521C>T	ENSP00000264639:p.Arg397Trp					PSMD3_ENST00000541736.1_Missense_Mutation_p.R259W	p.R397W	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN			8	1363	+	Colorectal(19;0.000442)		397			PCI.		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.1189C>T	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502273	0.85176	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.32753	1.44;1.44	5.17	3.04	0.35103	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.121321	0.56097	D	0.000026	T	0.63546	0.2520	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74856	-0.3522	10	0.87932	D	0	-7.8285	13.1625	0.59552	0.2886:0.7114:0.0:0.0	.	397	O43242	PSMD3_HUMAN	W	397;384;259	ENSP00000264639:R397W;ENSP00000442508:R259W	ENSP00000264639:R397W	R	+	1	2	PSMD3	35405047	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	3.002000	0.49496	1.366000	0.46076	0.655000	0.94253	CGG		0.547	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		61	95	0	0	0	1	0	61	95				
ZNF536	9745	broad.mit.edu	37	19	30934888	30934888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30934888G>A	ENST00000355537.3	+	2	566	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	140					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGCTTCCGCTTCAACAGC	0.637																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(418-420)cGc>cAc		zinc finger protein 536							64.0	53.0	57.0					19																	30934888		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934888G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.419G>A	19.37:g.30934888G>A	ENSP00000347730:p.Arg140His						p.R140H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	566	+	Esophageal squamous(110;0.0834)		140					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.419G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741096	0.69304	.	.	ENSG00000198597	ENST00000355537	T	0.08102	3.13	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	L	0.29908	0.895	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.01252	-1.1405	10	0.39692	T	0.17	-37.1755	19.4466	0.94849	0.0:0.0:1.0:0.0	.	140;140	A7E228;O15090	.;ZN536_HUMAN	H	140	ENSP00000347730:R140H	ENSP00000347730:R140H	R	+	2	0	ZNF536	35626728	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.868000	0.87116	2.609000	0.88269	0.462000	0.41574	CGC		0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		16	20	0	0	0	1	0	16	20				
FRRS1	391059	broad.mit.edu	37	1	100174574	100174574	+	3'UTR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100174574C>T	ENST00000414213.1	-	0	2390				FRRS1_ENST00000287474.5_Silent_p.K587K|FRRS1_ENST00000492943.1_5'Flank			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1							integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AAGCCAAGGTCTTTGCTTGCT	0.383																																						ENST00000287474.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1759-1761)aaG>aaA		ferric-chelate reductase 1							71.0	72.0	72.0					1																	100174574		2203	4300	6503	SO:0001624	3_prime_UTR_variant	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100174574C>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.*10G>A	1.37:g.100174574C>T						FRRS1_ENST00000414213.1_3'UTR	p.K587K	NM_001013660.2	NP_001013682.2	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	17	2362	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	0					A6NLN7	Silent	SNP	ENST00000414213.1	37	c.1761G>A																																																																																					0.383	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		46	38	0	0	0	1	0	46	38				
CDC42BPB	9578	broad.mit.edu	37	14	103406241	103406241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103406241C>T	ENST00000361246.2	-	33	4923	c.4635G>A	c.(4633-4635)aaG>aaA	p.K1545K	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCAGCATCTGCTTCTTGCTGT	0.652																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4633-4635)aaG>aaA		CDC42 binding protein kinase beta (DMPK-like)							157.0	159.0	158.0					14																	103406241		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103406241C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4635G>A	14.37:g.103406241C>T							p.K1545K	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	33	4923	-		Melanoma(154;0.155)	1545						Silent	SNP	ENST00000361246.2	37	c.4635G>A	CCDS9978.1																																																																																				0.652	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		8	163	0	0	0	1	0	8	163				
DDX19A	55308	broad.mit.edu	37	16	70395365	70395365	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70395365G>A	ENST00000302243.7	+	5	501	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000443119.2_Missense_Mutation_p.R23Q|DDX19A_ENST00000417604.2_Intron|DDX19A_ENST00000562509.1_3'UTR	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	113	N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GGCTTCAATCGACCCTCCAAG	0.478																																						ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(337-339)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A							141.0	114.0	123.0					16																	70395365		2198	4300	6498	SO:0001583	missense	55308							g.chr16:70395365G>A	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.338G>A	16.37:g.70395365G>A	ENSP00000306117:p.Arg113Gln					DDX19A_ENST00000562509.1_3'UTR|DDX19A_ENST00000443119.2_Missense_Mutation_p.R23Q|DDX19A_ENST00000417604.2_Intron|RP11-529K1.3_ENST00000567706.1_Intron	p.R113Q	NM_018332.3	NP_060802.1					5	501	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	ENST00000302243.7	37	c.338G>A	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166962	0.78339	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000443119	T;T	0.03330	4.03;3.97	5.09	3.14	0.36123	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.67700	2.07	0.53688	D	0.999974	D;D;D	0.89917	0.999;1.0;0.98	P;D;B	0.70716	0.638;0.97;0.28	T	0.00216	-1.1910	10	0.72032	D	0.01	.	9.6829	0.40080	0.1553:0.0:0.8447:0.0	.	23;113;114	B4DRZ7;Q9NUU7;Q7Z4W5	.;DD19A_HUMAN;.	Q	113;5;23	ENSP00000306117:R113Q;ENSP00000399208:R23Q	ENSP00000306209:R5Q	R	+	2	0	DDX19A	68952866	1.000000	0.71417	0.949000	0.38748	0.491000	0.33493	7.442000	0.80503	0.548000	0.28955	0.491000	0.48974	CGA		0.478	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		32	27	0	0	0	1	0	32	27				
LSAMP	4045	broad.mit.edu	37	3	115561378	115561378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:115561378G>A	ENST00000490035.2	-	5	1196	c.697C>T	c.(697-699)Cga>Tga	p.R233*	LSAMP_ENST00000539563.1_Nonsense_Mutation_p.R230*|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	233	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAAGCTTGTCGTCCTGTGGTG	0.517																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(697-699)Cga>Tga		limbic system-associated membrane protein							228.0	184.0	199.0					3																	115561378		2203	4300	6503	SO:0001587	stop_gained	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115561378G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.697C>T	3.37:g.115561378G>A	ENSP00000419000:p.Arg233*					LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Nonsense_Mutation_p.R230*	p.R233*	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	5	1196	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	233			Ig-like C2-type 3.		Q8IV49	Nonsense_Mutation	SNP	ENST00000490035.2	37	c.697C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382538	0.95967	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	.	.	.	5.7	0.0843	0.14436	.	0.185262	0.45126	D	0.000396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.8318	9.9575	0.41675	0.0652:0.0:0.3665:0.5683	.	.	.	.	X	217;233;230	.	ENSP00000328455:R217X	R	-	1	2	LSAMP	117044068	0.970000	0.33590	0.970000	0.41538	0.988000	0.76386	1.834000	0.39171	0.303000	0.22785	-0.188000	0.12872	CGA		0.517	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		11	25	0	0	0	1	0	11	25				
DOT1L	84444	broad.mit.edu	37	19	2216658	2216658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216658G>A	ENST00000398665.3	+	20	2338	c.2302G>A	c.(2302-2304)Gca>Aca	p.A768T	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	768					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCTAGCCGCACCCGACTA	0.697																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2302-2304)Gca>Aca		DOT1-like histone H3K79 methyltransferase							29.0	36.0	34.0					19																	2216658		2008	4075	6083	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216658G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2302G>A	19.37:g.2216658G>A	ENSP00000381657:p.Ala768Thr						p.A768T	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2338	+		Hepatocellular(1079;0.137)	768					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2302G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858625	0.32791	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.21543	2.0	5.21	-6.55	0.01854	.	0.534254	0.19100	N	0.122730	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B;B	0.28933	0.006;0.228	B;B	0.21708	0.0;0.036	T	0.15838	-1.0423	10	0.87932	D	0	-0.6218	5.5072	0.16860	0.1926:0.5579:0.1152:0.1343	.	768;768	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	T	768	ENSP00000381657:A768T	ENSP00000221482:A768T	A	+	1	0	DOT1L	2167658	0.069000	0.21087	0.040000	0.18447	0.107000	0.19398	0.062000	0.14389	-0.835000	0.04234	0.655000	0.94253	GCA		0.697	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		15	22	0	0	0	1	0	15	22				
SOX3	6658	broad.mit.edu	37	X	139586632	139586632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139586632C>T	ENST00000370536.2	-	1	593	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	198					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCTTCATGTGCACGGCGCGAA	0.592																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(592-594)gtG>gtA		SRY (sex determining region Y)-box 3							67.0	59.0	62.0					X																	139586632		2203	4300	6503	SO:0001819	synonymous_variant	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586632C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.594G>A	X.37:g.139586632C>T							p.V198V	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	593	-	Acute lymphoblastic leukemia(192;7.65e-05)		198					P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	c.594G>A	CCDS14669.1																																																																																				0.592	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			5	37	0	0	0	1	0	5	37				
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230841942C>A	ENST00000366667.4	-	3	1075	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGCCCTTCATCTTCCCTGAAA	0.607																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(859-861)aaG>aaT		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						41.0	37.0	38.0					1																	230841942		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230841942C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.861G>T	1.37:g.230841942C>A	ENSP00000355627:p.Lys287Asn						p.K287N	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	1075	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	287					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.861G>T	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574635	0.13623	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.85088	-1.94	4.91	3.77	0.43336	Serpin domain (3);	0.806755	0.11653	N	0.542589	T	0.75391	0.3843	L	0.42245	1.32	0.09310	N	1	B;B;B	0.32968	0.188;0.392;0.188	B;B;B	0.26416	0.022;0.069;0.022	T	0.64114	-0.6483	10	0.35671	T	0.21	.	4.8341	0.13456	0.1892:0.6261:0.0:0.1847	.	287;287;287	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	N	287;205	ENSP00000355627:K287N	ENSP00000355627:K287N	K	-	3	2	AGT	228908565	0.000000	0.05858	0.874000	0.34290	0.763000	0.43281	-0.391000	0.07323	2.263000	0.75096	0.462000	0.41574	AAG		0.607	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		14	31	1	0	4.36969e-10	1	5.35656e-10	14	31				
SLC9A2	6549	broad.mit.edu	37	2	103274445	103274445	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103274445C>A	ENST00000233969.2	+	2	854	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	238					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTCTACATCCTGGTCTTTGG	0.527																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(712-714)Ctg>Atg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							183.0	168.0	173.0					2																	103274445		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274445C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.712C>A	2.37:g.103274445C>A	ENSP00000233969:p.Leu238Met						p.L238M	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			2	854	+			238					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.712C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471363	0.63737	.	.	ENSG00000115616	ENST00000233969	T	0.20463	2.07	5.93	5.05	0.67936	Cation/H+ exchanger (1);	0.067049	0.64402	D	0.000009	T	0.36936	0.0985	L	0.49571	1.57	0.46725	D	0.999176	D	0.57257	0.979	P	0.62885	0.908	T	0.00893	-1.1524	10	0.37606	T	0.19	.	14.5507	0.68065	0.0:0.9304:0.0:0.0696	.	238	Q9UBY0	SL9A2_HUMAN	M	238	ENSP00000233969:L238M	ENSP00000233969:L238M	L	+	1	2	SLC9A2	102640877	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.366000	0.52343	2.808000	0.96608	0.655000	0.94253	CTG		0.527	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			11	116	1	0	1.08611e-07	1	1.2824e-07	11	116				
TXNDC16	57544	broad.mit.edu	37	14	53003474	53003474	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53003474A>C	ENST00000281741.4	-	6	726	c.355T>G	c.(355-357)Ttg>Gtg	p.L119V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	119					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACATCAAACAAGGTGTCAGTA	0.308																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(355-357)Ttg>Gtg		thioredoxin domain containing 16							78.0	68.0	71.0					14																	53003474		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:53003474A>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.355T>G	14.37:g.53003474A>C	ENSP00000281741:p.Leu119Val					TXNDC16_ENST00000554399.1_Intron	p.L119V	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			6	726	-	Breast(41;0.0716)		119					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.355T>G	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.158951	0.38119	.	.	ENSG00000087301	ENST00000281741	T	0.26223	1.75	5.99	4.86	0.63082	.	0.135765	0.48767	D	0.000165	T	0.21550	0.0519	L	0.56769	1.78	0.39491	D	0.968059	P;P	0.45044	0.816;0.849	B;B	0.35312	0.152;0.2	T	0.05989	-1.0852	10	0.42905	T	0.14	-30.6244	8.6678	0.34132	0.9151:0.0:0.0849:0.0	.	119;119	B7ZME4;Q9P2K2	.;TXD16_HUMAN	V	119	ENSP00000281741:L119V	ENSP00000281741:L119V	L	-	1	2	TXNDC16	52073224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.542000	0.36137	1.100000	0.41517	0.533000	0.62120	TTG		0.308	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		6	11	0	0	0	1	0	6	11				
TMCO3	55002	broad.mit.edu	37	13	114149983	114149983	+	Silent	SNP	G	G	A	rs376503457		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114149983G>A	ENST00000434316.2	+	2	446	c.87G>A	c.(85-87)gcG>gcA	p.A29A	TMCO3_ENST00000375391.1_Silent_p.A29A|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	29						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGGAGGTGGCGCAGCGTGTGA	0.647																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(85-87)gcG>gcA		transmembrane and coiled-coil domains 3							62.0	57.0	59.0					13																	114149983		2203	4300	6503	SO:0001819	synonymous_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114149983G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.87G>A	13.37:g.114149983G>A						TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.A29A	p.A29A	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	446	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	29					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.87G>A	CCDS9537.1																																																																																				0.647	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		12	22	0	0	0	1	0	12	22				
NADSYN1	55191	broad.mit.edu	37	11	71169509	71169509	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71169509A>G	ENST00000319023.2	+	3	370	c.182A>G	c.(181-183)gAc>gGc	p.D61G		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	61	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TACGAGTCGGACACCCTCTTG	0.572																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(181-183)gAc>gGc		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						176.0	154.0	162.0					11																	71169509		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71169509A>G	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.182A>G	11.37:g.71169509A>G	ENSP00000326424:p.Asp61Gly						p.D61G	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			3	370	+			61			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.182A>G	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.045482	0.75846	.	.	ENSG00000172890	ENST00000319023	D	0.86627	-2.15	4.35	4.35	0.52113	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.93838	0.8029	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94129	0.7386	10	0.52906	T	0.07	-45.993	11.8074	0.52163	1.0:0.0:0.0:0.0	.	61	Q6IA69	NADE_HUMAN	G	61	ENSP00000326424:D61G	ENSP00000326424:D61G	D	+	2	0	NADSYN1	70847157	1.000000	0.71417	0.982000	0.44146	0.603000	0.37013	7.710000	0.84655	1.721000	0.51461	0.459000	0.35465	GAC		0.572	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		7	92	0	0	0	1	0	7	92				
KIAA0825	285600	broad.mit.edu	37	5	93872794	93872794	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93872794T>G	ENST00000329378.7	-	3	287	c.38A>C	c.(37-39)gAc>gCc	p.D13A	KIAA0825_ENST00000427991.2_Missense_Mutation_p.D13A|KIAA0825_ENST00000513200.3_Missense_Mutation_p.D13A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.D13A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	13										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ACAATGTAGGTCAAAAGAATT	0.373																																						ENST00000513200.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(37-39)gAc>gCc		KIAA0825							71.0	74.0	73.0					5																	93872794		2203	4300	6503	SO:0001583	missense	285600							g.chr5:93872794T>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.38A>C	5.37:g.93872794T>G	ENSP00000331385:p.Asp13Ala					KIAA0825_ENST00000312498.7_Missense_Mutation_p.D13A|KIAA0825_ENST00000329378.7_Missense_Mutation_p.D13A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D13A	p.D13A	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN			2	110	-			13					O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	c.38A>C	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911830	0.72983	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;T;T	0.47869	0.84;0.84;0.83;0.83	5.49	5.49	0.81192	.	1.395140	0.03929	N	0.284868	T	0.66674	0.2813	L	0.50333	1.59	0.29462	N	0.857706	P;D	0.76494	0.827;0.999	B;D	0.63283	0.429;0.913	T	0.55879	-0.8071	10	0.72032	D	0.01	.	14.4497	0.67376	0.0:0.0:0.0:1.0	.	13;13	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	13	ENSP00000424618:D13A;ENSP00000400288:D13A;ENSP00000312205:D13A;ENSP00000331385:D13A	ENSP00000312205:D13A	D	-	2	0	KIAA0825	93898550	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.071000	0.64382	2.213000	0.71641	0.397000	0.26171	GAC		0.373	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		5	38	0	0	0	1	0	5	38				
PPAP2C	8612	broad.mit.edu	37	19	287504	287504	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:287504C>A	ENST00000269812.3	-	3	501	c.452G>T	c.(451-453)aGg>aTg	p.R151M	PPAP2C_ENST00000434325.2_Missense_Mutation_p.R95M|PPAP2C_ENST00000327790.3_Missense_Mutation_p.R172M	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	151					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTTTCCCCTGCACACCTT	0.597																																						ENST00000269812.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5						c.(451-453)aGg>aTg		phosphatidic acid phosphatase type 2C							77.0	84.0	82.0					19																	287504		2203	4300	6503	SO:0001583	missense	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:287504C>A	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.452G>T	19.37:g.287504C>A	ENSP00000269812:p.Arg151Met					PPAP2C_ENST00000434325.2_Missense_Mutation_p.R95M|PPAP2C_ENST00000327790.3_Missense_Mutation_p.R172M	p.R151M	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	501	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	151					A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	c.452G>T	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.316220	0.40996	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.75938	-0.98;-0.98;-0.98	4.73	3.69	0.42338	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.173016	0.42821	D	0.000658	T	0.78419	0.4280	L	0.52266	1.64	0.37026	D	0.896468	P;D	0.65815	0.953;0.995	P;P	0.61722	0.86;0.893	T	0.81145	-0.1066	10	0.66056	D	0.02	-15.837	9.0487	0.36363	0.0:0.8167:0.0:0.1833	.	151;172	O43688;O43688-2	LPP2_HUMAN;.	M	151;172;95	ENSP00000269812:R151M;ENSP00000329697:R172M;ENSP00000388565:R95M	ENSP00000269812:R151M	R	-	2	0	PPAP2C	238504	1.000000	0.71417	0.997000	0.53966	0.792000	0.44763	2.325000	0.43840	0.970000	0.38263	0.655000	0.94253	AGG		0.597	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			7	94	1	0	0.00307968	1	0.00325696	7	94				
OPA1	4976	broad.mit.edu	37	3	193333519	193333519	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193333519G>A	ENST00000392438.3	+	3	642	c.408G>A	c.(406-408)gtG>gtA	p.V136V	OPA1_ENST00000361510.2_Silent_p.V136V|OPA1_ENST00000361715.2_Silent_p.V136V|OPA1_ENST00000361908.3_Silent_p.V136V|OPA1_ENST00000361828.2_Silent_p.V136V|OPA1_ENST00000361150.2_Silent_p.V136V|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000487986.1_3'UTR|OPA1-AS1_ENST00000444085.1_RNA	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	136					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGGATTGTGCCTGACATTG	0.348																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(406-408)gtG>gtA		optic atrophy 1 (autosomal dominant)							271.0	275.0	274.0					3																	193333519		2203	4300	6503	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193333519G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.408G>A	3.37:g.193333519G>A						OPA1_ENST00000392438.3_Silent_p.V136V|OPA1_ENST00000361908.3_Silent_p.V136V|OPA1_ENST00000361828.2_Silent_p.V136V|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Silent_p.V136V|OPA1_ENST00000361715.2_Silent_p.V136V	p.V136V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	3	642	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		136					D3DNW4	Silent	SNP	ENST00000392438.3	37	c.408G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157149	0.21454	.	.	ENSG00000198836	ENST00000434811	.	.	.	5.73	1.84	0.25277	.	.	.	.	.	T	0.53674	0.1811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42378	-0.9455	4	.	.	.	-6.2292	6.0233	0.19640	0.1441:0.0:0.4547:0.4012	.	.	.	.	Y	36	.	.	C	+	2	0	OPA1	194816213	0.146000	0.22672	1.000000	0.80357	0.998000	0.95712	-0.657000	0.05335	0.311000	0.23014	0.585000	0.79938	TGC		0.348	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		8	201	0	0	0	1	0	8	201				
AGPAT5	55326	broad.mit.edu	37	8	6605223	6605223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6605223C>T	ENST00000285518.6	+	6	931	c.619C>T	c.(619-621)Cga>Tga	p.R207*	AGPAT5_ENST00000530716.1_3'UTR|MIR4659B_ENST00000580269.1_RNA	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	207					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GCTAACACCACGAATAAAGGC	0.373																																						ENST00000285518.6																		AGPAT5/MCPH1(2)	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11						c.(619-621)Cga>Tga		1-acylglycerol-3-phosphate O-acyltransferase 5							113.0	109.0	110.0					8																	6605223		2203	4300	6503	SO:0001587	stop_gained	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6605223C>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.619C>T	8.37:g.6605223C>T	ENSP00000285518:p.Arg207*					AGPAT5_ENST00000530716.1_3'UTR	p.R207*	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	6	931	+			207					Q8IZ47|Q9BQG4	Nonsense_Mutation	SNP	ENST00000285518.6	37	c.619C>T	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	C	39	7.390699	0.98255	.	.	ENSG00000155189	ENST00000285518	.	.	.	5.04	1.14	0.20703	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7285	12.7467	0.57285	0.3392:0.6608:0.0:0.0	.	.	.	.	X	207	.	ENSP00000285518:R207X	R	+	1	2	AGPAT5	6592631	1.000000	0.71417	0.947000	0.38551	0.894000	0.52154	2.320000	0.43797	0.365000	0.24400	0.655000	0.94253	CGA		0.373	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		7	42	0	0	0	1	0	7	42				
RPL10	6134	broad.mit.edu	37	X	153628932	153628932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153628932C>T	ENST00000369817.2	+	7	1033	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RPL10_ENST00000424325.2_Missense_Mutation_p.R153C|RPL10_ENST00000406022.2_Missense_Mutation_p.R102C|SNORA70_ENST00000384436.1_RNA			P27635	RL10_HUMAN	ribosomal protein L10	153					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGCCCTGCGCAGGGCCAA	0.572																																						ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(457-459)Cgc>Tgc		ribosomal protein L10							114.0	108.0	110.0					X																	153628932		2202	4300	6502	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153628932C>T	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.457C>T	X.37:g.153628932C>T	ENSP00000358832:p.Arg153Cys					RPL10_ENST00000406022.2_Missense_Mutation_p.R102C|RPL10_ENST00000369817.2_Missense_Mutation_p.R153C	p.R153C	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			6	645	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		153					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.457C>T	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.938862	0.52972	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022;ENST00000427682;ENST00000428169	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.82	4.82	0.62117	Ribosomal protein L10e/L16 (2);	0.148213	0.41712	U	0.000826	D	0.83562	0.5281	H	0.97365	3.99	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	D	0.84544	0.0640	10	0.66056	D	0.02	-6.4462	14.4069	0.67088	0.0:1.0:0.0:0.0	.	102;153	F8W7C6;P27635	.;RL10_HUMAN	C	153;153;153;153;102;63;63	ENSP00000358832:R153C;ENSP00000413436:R153C;ENSP00000341730:R153C;ENSP00000385621:R102C	ENSP00000341730:R153C	R	+	1	0	RPL10	153282126	0.994000	0.37717	0.932000	0.37286	0.943000	0.58893	3.198000	0.51035	1.977000	0.57605	0.513000	0.50165	CGC		0.572	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		25	48	0	0	0	1	0	25	48				
ENO2	2026	broad.mit.edu	37	12	7027207	7027207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7027207G>A	ENST00000535366.1	+	6	1174	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ENO2_ENST00000229277.1_Missense_Mutation_p.R183Q|ENO2_ENST00000538763.1_Missense_Mutation_p.R140Q|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.R183Q|ENO2_ENST00000544774.1_Missense_Mutation_p.R140Q			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	183					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATGCCATGCGACTAGGTGCA	0.537																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(547-549)cGa>cAa		enolase 2 (gamma, neuronal)							105.0	96.0	99.0					12																	7027207		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7027207G>A	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.548G>A	12.37:g.7027207G>A	ENSP00000437402:p.Arg183Gln					ENO2_ENST00000545045.2_Intron|ENO2_ENST00000538763.1_Missense_Mutation_p.R140Q|ENO2_ENST00000229277.1_Missense_Mutation_p.R183Q|ENO2_ENST00000544774.1_Missense_Mutation_p.R140Q|ENO2_ENST00000541477.1_Missense_Mutation_p.R183Q	p.R183Q			P09104	ENOG_HUMAN			6	1174	+			183					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.548G>A	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	g	16.60	3.168893	0.57584	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	4.91	4.02	0.46733	Enolase, C-terminal (1);	0.059493	0.64402	N	0.000003	T	0.49609	0.1567	M	0.62088	1.915	0.58432	D	0.999998	B;B	0.33135	0.399;0.371	B;B	0.31751	0.135;0.054	T	0.50583	-0.8811	10	0.45353	T	0.12	-3.2417	13.2076	0.59807	0.0773:0.0:0.9227:0.0	.	140;183	B7Z2X9;P09104	.;ENOG_HUMAN	Q	183;183;140;140;183	ENSP00000438873:R183Q;ENSP00000229277:R183Q;ENSP00000441490:R140Q;ENSP00000446195:R140Q;ENSP00000437402:R183Q	ENSP00000229277:R183Q	R	+	2	0	ENO2	6897468	1.000000	0.71417	0.791000	0.31998	0.692000	0.40212	5.778000	0.68940	1.065000	0.40693	0.450000	0.29827	CGA		0.537	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			19	32	0	0	0	1	0	19	32				
FAM107B	83641	broad.mit.edu	37	10	14563963	14563963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14563963G>A	ENST00000378470.1	-	3	470	c.184C>T	c.(184-186)Cga>Tga	p.R62*	FAM107B_ENST00000378458.2_Nonsense_Mutation_p.R62*|FAM107B_ENST00000181796.2_Nonsense_Mutation_p.R237*|FAM107B_ENST00000378467.4_Nonsense_Mutation_p.R62*|FAM107B_ENST00000478076.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378462.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378465.3_Nonsense_Mutation_p.R62*|FAM107B_ENST00000468747.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000479731.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000496330.1_Nonsense_Mutation_p.R62*	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	62					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTGGTCTCGTTTTCTTTTT	0.398																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(709-711)Cga>Tga		family with sequence similarity 107, member B							182.0	171.0	175.0					10																	14563963		2203	4300	6503	SO:0001587	stop_gained	83641							g.chr10:14563963G>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.184C>T	10.37:g.14563963G>A	ENSP00000367731:p.Arg62*					FAM107B_ENST00000496330.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000479731.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378458.2_Nonsense_Mutation_p.R62*|FAM107B_ENST00000468747.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378465.3_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378462.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378470.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000478076.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378467.4_Nonsense_Mutation_p.R62*	p.R237*	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			4	942	-			62					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	ENST00000378470.1	37	c.709C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.273206	0.97431	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	.	.	.	5.97	5.06	0.68205	.	0.102103	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.6595	9.0607	0.36433	0.0707:0.0:0.691:0.2383	.	.	.	.	X	62;237;62;62;62;62;62;62;62;62;62;62;62;62;62;62;62;62;62;62	.	ENSP00000181796:R237X	R	-	1	2	FAM107B	14603969	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.725000	0.38074	2.837000	0.97791	0.655000	0.94253	CGA		0.398	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		24	49	0	0	0	1	0	24	49				
ZRANB2	9406	broad.mit.edu	37	1	71534977	71534977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71534977G>T	ENST00000370920.3	-	8	1053	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	ZRANB2-AS1_ENST00000450461.1_RNA|MIR186_ENST00000384988.1_RNA|ZRANB2_ENST00000477096.1_5'Flank|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.S251Y	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	251	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S251C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCCACGAGATCTCGAACG	0.433																																						ENST00000370920.3																			2	Substitution - Missense(2)	p.S251C(2)	lung(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(751-753)tCt>tAt		zinc finger, RAN-binding domain containing 2							95.0	93.0	94.0					1																	71534977		2203	4300	6503	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71534977G>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.752C>A	1.37:g.71534977G>T	ENSP00000359958:p.Ser251Tyr					ZRANB2_ENST00000254821.6_Missense_Mutation_p.S251Y	p.S251Y	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			8	1053	-			251			Arg/Ser-rich.|Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.752C>A	CCDS659.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310643	0.60414	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.67345	-0.26;-0.24	5.6	5.6	0.85130	.	0.699470	0.15121	N	0.279368	T	0.68988	0.3061	N	0.24115	0.695	0.53688	D	0.999979	D;D	0.58970	0.972;0.984	P;D	0.74348	0.831;0.983	T	0.73757	-0.3882	10	0.87932	D	0	.	19.6181	0.95643	0.0:0.0:1.0:0.0	.	251;251	O95218;O95218-2	ZRAB2_HUMAN;.	Y	251	ENSP00000359958:S251Y;ENSP00000254821:S251Y	ENSP00000254821:S251Y	S	-	2	0	ZRANB2	71307565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.639000	0.89480	0.460000	0.39030	TCT		0.433	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		4	35	1	0	0.000602214	1	0.000649039	4	35				
ITGA8	8516	broad.mit.edu	37	10	15649769	15649769	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15649769G>T	ENST00000378076.3	-	17	2024	c.1671C>A	c.(1669-1671)ctC>ctA	p.L557L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	557					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATCAAGGAAGAGCGTCCGTT	0.428																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1669-1671)ctC>ctA		integrin, alpha 8							148.0	143.0	145.0					10																	15649769		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15649769G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1671C>A	10.37:g.15649769G>T							p.L557L	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			17	2024	-			557					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1671C>A	CCDS31155.1																																																																																				0.428	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		7	154	1	0	8.12818e-05	1	8.99451e-05	7	154				
USH1C	10083	broad.mit.edu	37	11	17544785	17544785	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17544785G>A	ENST00000318024.4	-	11	957	c.849C>T	c.(847-849)agC>agT	p.S283S	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000005226.7_Silent_p.S283S|USH1C_ENST00000527720.1_Silent_p.S252S	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	283	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGATGGTCAGGCTGCGGCTAC	0.582																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(847-849)agC>agT		Usher syndrome 1C (autosomal recessive, severe)							116.0	114.0	115.0					11																	17544785		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17544785G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.849C>T	11.37:g.17544785G>A						USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Silent_p.S283S|USH1C_ENST00000527720.1_Silent_p.S252S	p.S283S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			11	848	-			283			PDZ 2.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.849C>T	CCDS31438.1																																																																																				0.582	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		57	73	0	0	0	1	0	57	73				
PARP16	54956	broad.mit.edu	37	15	65558947	65558947	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65558947T>G	ENST00000261888.6	-	3	917	c.472A>C	c.(472-474)Aac>Cac	p.N158H	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	158	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAATGGAAGTTTTCTAGGCGG	0.493																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(472-474)Aac>Cac		poly (ADP-ribose) polymerase family, member 16							157.0	136.0	143.0					15																	65558947		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65558947T>G	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.472A>C	15.37:g.65558947T>G	ENSP00000261888:p.Asn158His					PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	p.N158H	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			3	917	-			158			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000261888.6	37	c.472A>C	CCDS10204.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670969	0.88348	.	.	ENSG00000138617	ENST00000261888	T	0.19250	2.16	5.58	5.58	0.84498	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.85373	2.75	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.978;0.987	T	0.58912	-0.7552	10	0.87932	D	0	-42.0679	14.9318	0.70919	0.0:0.0:0.0:1.0	.	158;158	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	H	158	ENSP00000261888:N158H	ENSP00000261888:N158H	N	-	1	0	PARP16	63346000	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.761000	0.85260	2.125000	0.65367	0.379000	0.24179	AAC		0.493	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851		23	45	0	0	0	1	0	23	45				
MTX1	4580	broad.mit.edu	37	1	155178807	155178807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155178807C>T	ENST00000368376.3	+	1	318	c.212C>T	c.(211-213)gCg>gTg	p.A71V	THBS3_ENST00000541990.1_5'Flank|MTX1_ENST00000609421.1_5'Flank|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000457183.2_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.A71V	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	71					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGCCGACAGCGCTGTCCCGC	0.751																																						ENST00000368376.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(211-213)gCg>gTg		metaxin 1							6.0	8.0	7.0					1																	155178807		2100	4156	6256	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155178807C>T		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.212C>T	1.37:g.155178807C>T	ENSP00000357360:p.Ala71Val					MTX1_ENST00000316721.4_Missense_Mutation_p.A71V	p.A71V	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	318	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		71					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.212C>T	CCDS1100.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119613	0.37436	.	.	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.30981	1.51;1.51	4.48	3.56	0.40772	.	0.885835	0.09351	N	0.814132	T	0.06735	0.0172	N	0.24115	0.695	0.09310	N	1	P;B	0.40578	0.722;0.447	B;B	0.24394	0.053;0.024	T	0.15037	-1.0451	10	0.62326	D	0.03	-5.8299	8.5905	0.33684	0.0:0.8941:0.0:0.1059	.	71;71	Q13505-2;Q13505	.;MTX1_HUMAN	V	71	ENSP00000357360:A71V;ENSP00000317106:A71V	ENSP00000317106:A71V	A	+	2	0	MTX1	153445431	0.073000	0.21202	0.012000	0.15200	0.040000	0.13550	0.985000	0.29578	1.240000	0.43803	0.655000	0.94253	GCG		0.751	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		5	5	0	0	0	1	0	5	5				
PINX1	54984	broad.mit.edu	37	8	10623373	10623373	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10623373G>T	ENST00000314787.3	-	7	644	c.525C>A	c.(523-525)gcC>gcA	p.A175A	SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_Missense_Mutation_p.L150I|PINX1_ENST00000426190.2_Missense_Mutation_p.L148I|CTD-2135J3.3_ENST00000506149.2_RNA	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	175					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GGATGGTGAAGGCGCTGGTTG	0.542																																						ENST00000426190.2																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(442-444)Ctt>Att		PIN2/TERF1 interacting, telomerase inhibitor 1							148.0	155.0	153.0					8																	10623373		2045	4193	6238	SO:0001819	synonymous_variant	54984							g.chr8:10623373G>T	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.525C>A	8.37:g.10623373G>T						SOX7_ENST00000553390.1_Intron|PINX1_ENST00000314787.3_Silent_p.A175A|PINX1_ENST00000519088.1_Missense_Mutation_p.L150I|SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA	p.L148I						Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)	6	567	-								B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.442C>A	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752591	0.15778	.	.	ENSG00000254093	ENST00000426190;ENST00000519088	.	.	.	5.8	4.01	0.46588	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.18873	N	0.999989	B	0.06786	0.001	B	0.09377	0.004	T	0.21143	-1.0254	7	0.21540	T	0.41	.	7.4912	0.27462	0.0835:0.0:0.7519:0.1646	.	150	Q96BK5-2	.	I	148;150	.	ENSP00000411396:L148I	L	-	1	0	PINX1	10660783	1.000000	0.71417	0.995000	0.50966	0.146000	0.21551	2.411000	0.44600	0.788000	0.33755	-0.890000	0.02929	CTT		0.542	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		8	177	1	0	3.09899e-07	1	3.63227e-07	8	177				
FBXW8	26259	broad.mit.edu	37	12	117461972	117461972	+	Missense_Mutation	SNP	G	G	A	rs186364302		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117461972G>A	ENST00000309909.5	+	9	1470	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	FBXW8_ENST00000455858.2_Missense_Mutation_p.R397H			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	463					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACGACCTCCGCAGTGGTAAC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		21857	0.001		0.0	False		,,,				2504	0.0					ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1189-1191)cGc>cAc		F-box and WD repeat domain containing 8							110.0	90.0	97.0					12																	117461972		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117461972G>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1388G>A	12.37:g.117461972G>A	ENSP00000310686:p.Arg463His					FBXW8_ENST00000309909.5_Missense_Mutation_p.R463H	p.R397H	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	9	1263	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		463					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.1190G>A	CCDS9182.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.4	3.990522	0.74589	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.05580	3.42;3.42	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.053120	0.85682	D	0.000000	T	0.28632	0.0709	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	T	0.00398	-1.1764	10	0.66056	D	0.02	-22.1954	19.5968	0.95544	0.0:0.0:1.0:0.0	.	463;397	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	H	463;397;397	ENSP00000310686:R463H;ENSP00000389144:R397H	ENSP00000310686:R463H	R	+	2	0	FBXW8	115946355	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	8.300000	0.89948	2.793000	0.96121	0.655000	0.94253	CGC		0.582	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		4	39	0	0	0	1	0	4	39				
PORCN	64840	broad.mit.edu	37	X	48370738	48370738	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48370738A>T	ENST00000326194.6	+	4	441	c.398A>T	c.(397-399)aAg>aTg	p.K133M	PORCN_ENST00000359882.4_Missense_Mutation_p.K133M|PORCN_ENST00000537758.1_Missense_Mutation_p.K133M|PORCN_ENST00000355961.4_Missense_Mutation_p.K133M|PORCN_ENST00000367574.4_Missense_Mutation_p.K62M|PORCN_ENST00000355092.3_Missense_Mutation_p.K133M|PORCN_ENST00000361988.3_Missense_Mutation_p.K133M	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	133					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCCATGAAGGCAGTGTCT	0.607																																						ENST00000367574.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(184-186)aAg>aTg		porcupine homolog (Drosophila)							80.0	66.0	71.0					X																	48370738		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48370738A>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.398A>T	X.37:g.48370738A>T	ENSP00000322304:p.Lys133Met					PORCN_ENST00000359882.4_Missense_Mutation_p.K133M|PORCN_ENST00000355092.3_Missense_Mutation_p.K133M|PORCN_ENST00000537758.1_Missense_Mutation_p.K133M|PORCN_ENST00000361988.3_Missense_Mutation_p.K133M|PORCN_ENST00000355961.4_Missense_Mutation_p.K133M|PORCN_ENST00000326194.6_Missense_Mutation_p.K133M	p.K62M			Q9H237	PORCN_HUMAN			5	690	+			133			Leu-rich.		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.185A>T	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735360	0.48939	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.86969	0.6061	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.998	D	0.88921	0.3366	10	0.87932	D	0	-7.8401	12.0415	0.53456	1.0:0.0:0.0:0.0	.	133;133;62;133;133	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	M	133;133;62;133;133;133;133	ENSP00000352946:K133M;ENSP00000446401:K133M;ENSP00000356546:K62M;ENSP00000348233:K133M;ENSP00000354978:K133M;ENSP00000322304:K133M;ENSP00000347207:K133M	ENSP00000322304:K133M	K	+	2	0	PORCN	48255682	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	8.659000	0.91116	1.747000	0.51819	0.242000	0.17961	AAG		0.607	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		4	36	0	0	0	1	0	4	36				
PLCB4	5332	broad.mit.edu	37	20	9424888	9424888	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9424888A>T	ENST00000378493.1	+	28	2857	c.2842A>T	c.(2842-2844)Aag>Tag	p.K948*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.K960*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.K960*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.K948*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.K948*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.K948*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	948					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAACATGCAAAGGTACAGTG	0.338																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2842-2844)Aag>Tag		phospholipase C, beta 4							69.0	71.0	70.0					20																	9424888		2203	4299	6502	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9424888A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2842A>T	20.37:g.9424888A>T	ENSP00000367754:p.Lys948*					PLCB4_ENST00000414679.2_Nonsense_Mutation_p.K960*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.K948*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.K948*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.K948*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.K960*|PLCB4_ENST00000492632.1_3'UTR	p.K948*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			28	2857	+			948					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2842A>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	44	10.992840	0.99499	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1946	0.82018	1.0:0.0:0.0:0.0	.	.	.	.	X	948;960;948;948;948;796	.	ENSP00000278655:K948X	K	+	1	0	PLCB4	9372888	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.239000	0.89811	2.228000	0.72767	0.528000	0.53228	AAG		0.338	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			7	48	0	0	0	1	0	7	48				
TTN	7273	broad.mit.edu	37	2	179435367	179435367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179435367G>A	ENST00000591111.1	-	276	70793	c.70569C>T	c.(70567-70569)gaC>gaT	p.D23523D	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.D22596D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.D25164D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D16291D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.D16099D|TTN_ENST00000359218.5_Silent_p.D16224D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23523	Ig-like 119.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGGCAAAGTCGGTGCTCT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75490-75492)gaC>gaT		titin							152.0	138.0	143.0					2																	179435367		1915	4123	6038	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435367G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70569C>T	2.37:g.179435367G>A						TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.D16099D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.D22596D|TTN_ENST00000359218.5_Silent_p.D16224D|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.D16291D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.D23523D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.D25164D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75716	-			23523			Fibronectin type-III 83.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.75492C>T																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	56	0	0	0	1	0	30	56				
FUT9	10690	broad.mit.edu	37	6	96651394	96651394	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:96651394T>A	ENST00000302103.5	+	3	689	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	121					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAATTTACCTCAGCAAGCTA	0.463																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(361-363)ccT>ccA		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							110.0	98.0	102.0					6																	96651394		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651394T>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.363T>A	6.37:g.96651394T>A							p.P121P	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	689	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	121					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.363T>A	CCDS5033.1																																																																																				0.463	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		8	41	0	0	0	1	0	8	41				
SEC24D	9871	broad.mit.edu	37	4	119754819	119754819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119754819C>T	ENST00000280551.6	-	2	271	c.33G>A	c.(31-33)ccG>ccA	p.P11P	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Silent_p.P11P			O94855	SC24D_HUMAN	SEC24 family member D	11	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGAGAATACGGAGGTGTAG	0.433																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(31-33)ccG>ccA		SEC24 family member D							159.0	144.0	149.0					4																	119754819		2203	4300	6503	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119754819C>T	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.33G>A	4.37:g.119754819C>T						SEC24D_ENST00000280551.6_Silent_p.P11P|SEC24D_ENST00000419654.2_5'UTR	p.P11P	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			2	304	-			11			Pro-rich.		Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.33G>A	CCDS3710.1																																																																																				0.433	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			22	48	0	0	0	1	0	22	48				
LPCAT1	79888	broad.mit.edu	37	5	1494887	1494887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1494887C>T	ENST00000283415.3	-	3	553	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	141					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACAGGGATGGCGTCGAAGTAG	0.652																																						ENST00000283415.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(421-423)Gcc>Acc		lysophosphatidylcholine acyltransferase 1							101.0	87.0	92.0					5																	1494887		2203	4300	6503	SO:0001583	missense	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1494887C>T	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.421G>A	5.37:g.1494887C>T	ENSP00000283415:p.Ala141Thr						p.A141T	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	3	553	-			141					Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.421G>A	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312495	0.95655	.	.	ENSG00000153395	ENST00000283415	D	0.93426	-3.22	4.99	4.99	0.66335	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	L	0.40543	1.245	0.80722	D	1	P	0.47253	0.892	P	0.48795	0.59	D	0.91402	0.5144	10	0.31617	T	0.26	-32.6635	18.2548	0.90016	0.0:1.0:0.0:0.0	.	141	Q8NF37	PCAT1_HUMAN	T	141	ENSP00000283415:A141T	ENSP00000283415:A141T	A	-	1	0	LPCAT1	1547887	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.204000	0.77872	2.297000	0.77311	0.563000	0.77884	GCC		0.652	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		5	31	0	0	0	1	0	5	31				
GNAL	2774	broad.mit.edu	37	18	11872382	11872382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11872382A>G	ENST00000423027.3	+	10	1237	c.916A>G	c.(916-918)Act>Gct	p.T306A	GNAL_ENST00000269162.5_Missense_Mutation_p.T306A|GNAL_ENST00000602628.1_Missense_Mutation_p.T99A|GNAL_ENST00000535121.1_Missense_Mutation_p.T306A|GNAL_ENST00000334049.6_Missense_Mutation_p.T383A			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	306					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGCAAATTATACTGTTCCTGA	0.323																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(1147-1149)Act>Gct		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							87.0	92.0	91.0					18																	11872382		2203	4298	6501	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11872382A>G	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.916A>G	18.37:g.11872382A>G	ENSP00000408489:p.Thr306Ala					GNAL_ENST00000423027.3_Missense_Mutation_p.T306A|GNAL_ENST00000602628.1_Missense_Mutation_p.T99A|GNAL_ENST00000535121.1_Missense_Mutation_p.T306A|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000269162.5_Missense_Mutation_p.T306A	p.T383A	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			10	1755	+			306					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.1147A>G	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321009	0.41096	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.41	5.41	0.78517	.	1.886140	0.02670	N	0.108444	D	0.86385	0.5920	L	0.36672	1.1	0.80722	D	1	B;B	0.32653	0.379;0.009	P;B	0.44732	0.459;0.013	T	0.64402	-0.6416	10	0.62326	D	0.03	.	15.7385	0.77866	1.0:0.0:0.0:0.0	.	306;383	P38405;Q86XU3	GNAL_HUMAN;.	A	245;383;306;306;306;99	ENSP00000334051:T383A;ENSP00000439023:T306A;ENSP00000269162:T306A;ENSP00000408489:T306A	ENSP00000269162:T306A	T	+	1	0	GNAL	11862382	1.000000	0.71417	0.994000	0.49952	0.833000	0.47200	8.910000	0.92685	2.179000	0.69175	0.459000	0.35465	ACT		0.323	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		9	73	0	0	0	1	0	9	73				
ZNF543	125919	broad.mit.edu	37	19	57835094	57835094	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57835094G>T	ENST00000321545.4	+	2	408	c.63G>T	c.(61-63)gaG>gaT	p.E21D		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACCCAGGAGGAGTGGGGAC	0.507																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(61-63)gaG>gaT		zinc finger protein 543							173.0	150.0	158.0					19																	57835094		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835094G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.63G>T	19.37:g.57835094G>T	ENSP00000322545:p.Glu21Asp						p.E21D	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	408	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	21			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.63G>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687031	0.48097	.	.	ENSG00000178229	ENST00000321545	T	0.03413	3.94	1.51	1.51	0.23008	Krueppel-associated box (4);	.	.	.	.	T	0.16214	0.0390	M	0.82193	2.58	0.23487	N	0.997577	D	0.76494	0.999	D	0.80764	0.994	T	0.06250	-1.0837	9	0.31617	T	0.26	.	10.6007	0.45365	0.0:0.0:1.0:0.0	.	21	Q08ER8	ZN543_HUMAN	D	21	ENSP00000322545:E21D	ENSP00000322545:E21D	E	+	3	2	ZNF543	62526906	1.000000	0.71417	0.384000	0.26145	0.658000	0.38924	2.005000	0.40864	1.129000	0.42072	0.467000	0.42956	GAG		0.507	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		8	108	1	0	0.000274275	1	0.000298791	8	108				
TTLL4	9654	broad.mit.edu	37	2	219602861	219602861	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219602861T>C	ENST00000392102.1	+	3	802	c.462T>C	c.(460-462)ccT>ccC	p.P154P	TTLL4_ENST00000442769.1_Silent_p.P154P|TTLL4_ENST00000258398.4_Silent_p.P154P|TTLL4_ENST00000457313.1_5'UTR	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	154					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAGCCTCCCTGTCAGTCTCA	0.542																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(460-462)ccT>ccC		tubulin tyrosine ligase-like family, member 4							93.0	98.0	96.0					2																	219602861		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602861T>C		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.462T>C	2.37:g.219602861T>C						TTLL4_ENST00000442769.1_Silent_p.P154P|TTLL4_ENST00000258398.4_Silent_p.P154P|TTLL4_ENST00000457313.1_5'UTR	p.P154P	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	802	+		Renal(207;0.0915)	154					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.462T>C	CCDS2422.1																																																																																				0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		12	111	0	0	0	1	0	12	111				
ZNF462	58499	broad.mit.edu	37	9	109689094	109689094	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689094G>T	ENST00000277225.5	+	3	3190	c.2901G>T	c.(2899-2901)caG>caT	p.Q967H	ZNF462_ENST00000457913.1_Missense_Mutation_p.Q967H|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	967					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGAGCAGCAGGAAGGGCTGA	0.512																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2899-2901)caG>caT		zinc finger protein 462							80.0	79.0	79.0					9																	109689094		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689094G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2901G>T	9.37:g.109689094G>T	ENSP00000277225:p.Gln967His					ZNF462_ENST00000457913.1_Missense_Mutation_p.Q967H	p.Q967H			Q96JM2	ZN462_HUMAN			3	3190	+			967					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2901G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980530	0.34942	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.06068	3.35;3.79	5.5	2.07	0.26955	.	0.235602	0.44902	N	0.000402	T	0.09862	0.0242	L	0.36672	1.1	0.80722	D	1	D;B	0.67145	0.996;0.001	P;B	0.61940	0.896;0.002	T	0.29397	-1.0013	9	.	.	.	.	3.7574	0.08591	0.3131:0.0:0.5063:0.1806	.	967;967	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	967	ENSP00000277225:Q967H;ENSP00000414570:Q967H	.	Q	+	3	2	ZNF462	108728915	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.579000	0.23788	0.757000	0.33036	-0.140000	0.14226	CAG		0.512	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	57	1	0	0.150653	1	0.152692	4	57				
DDX11	1663	broad.mit.edu	37	12	31256654	31256654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31256654G>A	ENST00000407793.2	+	26	2926	c.2675G>A	c.(2674-2676)tGc>tAc	p.C892Y	DDX11_ENST00000228264.6_Missense_Mutation_p.A868T|DDX11_ENST00000542838.1_Missense_Mutation_p.A894T|DDX11_ENST00000545668.1_Missense_Mutation_p.C892Y|DDX11_ENST00000350437.4_Missense_Mutation_p.A844T|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	892					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGCCATTGCTGCTGTGCAGAA	0.602										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2674-2676)tGc>tAc		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							84.0	91.0	88.0					12																	31256654		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31256654G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2675G>A	12.37:g.31256654G>A	ENSP00000384703:p.Cys892Tyr	Multiple Myeloma(12;0.14)				DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.C892Y|DDX11_ENST00000542838.1_Missense_Mutation_p.A894T|DDX11_ENST00000228264.6_Missense_Mutation_p.A868T|DDX11_ENST00000350437.4_Missense_Mutation_p.A844T	p.C892Y	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			26	2926	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		892					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2675G>A	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.540|0.540	-0.854011|-0.854011	0.02630|0.02630	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000542838;ENST00000228264;ENST00000350437|ENST00000407793;ENST00000545668	T;T;T|T;T	0.80653|0.72835	-1.4;-1.3;-1.09|-0.69;-0.69	3.14|3.14	1.27|1.27	0.21489|0.21489	.|.	2.514830|.	0.01580|.	N|.	0.021001|.	T|T	0.45597|0.45597	0.1350|0.1350	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|B	0.09022|0.09022	0.002;0.002;0.002|0.002	B;B;B|B	0.14023|0.04013	0.01;0.009;0.01|0.001	T|T	0.20240|0.20240	-1.0281|-1.0281	10|9	0.22109|0.56958	T|D	0.4|0.05	.|.	5.2579|5.2579	0.15558|0.15558	0.4026:0.0:0.5974:0.0|0.4026:0.0:0.5974:0.0	.|.	868;844;894|892	Q96FC9-3;Q96FC9-4;Q96FC9-2|Q96FC9	.;.;.|DDX11_HUMAN	T|Y	894;868;844|892	ENSP00000443426:A894T;ENSP00000228264:A868T;ENSP00000309965:A844T|ENSP00000384703:C892Y;ENSP00000440402:C892Y	ENSP00000228264:A868T|ENSP00000384703:C892Y	A|C	+|+	1|2	0|0	DDX11|DDX11	31147921|31147921	0.924000|0.924000	0.31332|0.31332	0.226000|0.226000	0.23910|0.23910	0.002000|0.002000	0.02628|0.02628	1.627000|1.627000	0.37050|0.37050	0.088000|0.088000	0.17205|0.17205	-0.451000|-0.451000	0.05528|0.05528	GCT|TGC		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		35	48	0	0	0	1	0	35	48				
MYO18B	84700	broad.mit.edu	37	22	26272246	26272246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272246C>A	ENST00000407587.2	+	24	4343	c.4174C>A	c.(4174-4176)Ctc>Atc	p.L1392I	MYO18B_ENST00000335473.7_Missense_Mutation_p.L1391I|MYO18B_ENST00000536101.1_Missense_Mutation_p.L1391I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1391						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTTGGTTCCCTCCAGCCTCT	0.592																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4171-4173)Ctc>Atc		myosin XVIIIB							39.0	45.0	43.0					22																	26272246		2097	4223	6320	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26272246C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4174C>A	22.37:g.26272246C>A	ENSP00000386096:p.Leu1392Ile					MYO18B_ENST00000536101.1_Missense_Mutation_p.L1391I|MYO18B_ENST00000407587.2_Missense_Mutation_p.L1392I	p.L1391I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			24	4421	+			1391					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4171C>A		.	.	.	.	.	.	.	.	.	.	C	13.00	2.106171	0.37145	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.84800	-1.88;-1.88;-1.9	4.83	2.61	0.31194	.	0.184175	0.35207	N	0.003365	T	0.62344	0.2420	N	0.04090	-0.28	0.29779	N	0.834137	B;B;B;P	0.35307	0.251;0.361;0.433;0.494	B;B;B;B	0.33121	0.158;0.076;0.11;0.158	T	0.60383	-0.7274	10	0.51188	T	0.08	.	2.8174	0.05459	0.1848:0.5349:0.1787:0.1016	.	904;1391;1392;1391	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	1391;1391;1392	ENSP00000441229:L1391I;ENSP00000334563:L1391I;ENSP00000386096:L1392I	ENSP00000334563:L1391I	L	+	1	0	MYO18B	24602246	0.963000	0.33076	0.996000	0.52242	0.696000	0.40369	1.792000	0.38754	2.384000	0.81235	0.650000	0.86243	CTC		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		12	15	1	0	6.40141e-05	1	7.11719e-05	12	15				
IL23A	51561	broad.mit.edu	37	12	56733533	56733533	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56733533A>G	ENST00000228534.4	+	3	486	c.320A>G	c.(319-321)gAt>gGt	p.D107G	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	107					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTAGGATCGGATATTTTCACA	0.512																																						ENST00000228534.4																			0				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(319-321)gAt>gGt		interleukin 23, alpha subunit p19							92.0	94.0	94.0					12																	56733533		2203	4300	6503	SO:0001583	missense	51561				defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	g.chr12:56733533A>G	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.320A>G	12.37:g.56733533A>G	ENSP00000228534:p.Asp107Gly						p.D107G	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN			3	486	+			107					Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	ENST00000228534.4	37	c.320A>G	CCDS8916.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427010	0.62733	.	.	ENSG00000110944	ENST00000228534	T	0.30182	1.54	5.14	5.14	0.70334	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000007	T	0.43366	0.1244	L	0.34521	1.04	0.45150	D	0.998163	D	0.89917	1.0	D	0.87578	0.998	T	0.38373	-0.9664	10	0.87932	D	0	-20.6044	11.9089	0.52727	1.0:0.0:0.0:0.0	.	107	Q9NPF7	IL23A_HUMAN	G	107	ENSP00000228534:D107G	ENSP00000228534:D107G	D	+	2	0	IL23A	55019800	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	4.308000	0.59129	2.242000	0.73789	0.460000	0.39030	GAT		0.512	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_016584		20	67	0	0	0	1	0	20	67				
NAT10	55226	broad.mit.edu	37	11	34160752	34160752	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34160752A>G	ENST00000257829.3	+	22	2432	c.2226A>G	c.(2224-2226)ggA>ggG	p.G742G	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.G670G	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	742	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.|Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACCTGACCGGAGAGCACTCGT	0.517																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2224-2226)ggA>ggG		N-acetyltransferase 10 (GCN5-related)							96.0	94.0	94.0					11																	34160752		2202	4298	6500	SO:0001819	synonymous_variant	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34160752A>G	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2226A>G	11.37:g.34160752A>G						NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.G670G	p.G742G	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			22	2432	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	742			N-acetyltransferase.|Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	ENST00000257829.3	37	c.2226A>G	CCDS7889.1																																																																																				0.517	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		8	90	0	0	0	1	0	8	90				
SERBP1	26135	broad.mit.edu	37	1	67880964	67880964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67880964G>A	ENST00000370995.2	-	7	1140	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	SERBP1_ENST00000361219.6_Missense_Mutation_p.T337M|RNU6-387P_ENST00000411331.1_RNA|SERBP1_ENST00000370994.4_Missense_Mutation_p.T331M|SERBP1_ENST00000370990.5_Missense_Mutation_p.T346M			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	352					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CAGCTGAGACGTTATATCATT	0.512																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(991-993)aCg>aTg		SERPINE1 mRNA binding protein 1							67.0	71.0	70.0					1																	67880964		2203	4300	6503	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67880964G>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.1055C>T	1.37:g.67880964G>A	ENSP00000360034:p.Thr352Met					SERBP1_ENST00000361219.6_Missense_Mutation_p.T337M|SERBP1_ENST00000370990.5_Missense_Mutation_p.T346M|SERBP1_ENST00000370995.2_Missense_Mutation_p.T352M	p.T331M	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			7	1106	-			352					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.992C>T	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508767	0.85282	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81635	0.4864	M	0.81341	2.54	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.981;0.953	D;D;P;B	0.87578	0.994;0.998;0.477;0.36	T	0.81967	-0.0690	9	0.62326	D	0.03	-25.9365	20.1057	0.97893	0.0:0.0:1.0:0.0	.	394;409;337;352	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	M	331;352;337;346	.	ENSP00000354591:T337M	T	-	2	0	SERBP1	67653552	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	9.496000	0.97967	2.827000	0.97445	0.650000	0.86243	ACG		0.512	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		4	94	0	0	0	1	0	4	94				
ZNF583	147949	broad.mit.edu	37	19	56925731	56925731	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56925731C>A	ENST00000333201.9	+	4	364	c.154C>A	c.(154-156)Cca>Aca	p.P52T	ZNF583_ENST00000291598.7_Missense_Mutation_p.P52T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTTTCTAAGCCAGATGTGAT	0.433																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(154-156)Cca>Aca		zinc finger protein 583							100.0	109.0	106.0					19																	56925731		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56925731C>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.154C>A	19.37:g.56925731C>A	ENSP00000388502:p.Pro52Thr					ZNF583_ENST00000291598.7_Missense_Mutation_p.P52T	p.P52T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	4	364	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	52			KRAB.		O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.154C>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701965	0.68501	.	.	ENSG00000198440	ENST00000537943;ENST00000291598;ENST00000333201;ENST00000391778;ENST00000436972	T;T;T;T	0.01005	5.45;5.45;5.45;5.45	4.72	4.72	0.59763	Krueppel-associated box (3);	0.000000	0.39544	N	0.001333	T	0.03915	0.0110	M	0.88450	2.955	0.32961	D	0.521023	P	0.52463	0.953	P	0.50109	0.631	T	0.01484	-1.1343	10	0.66056	D	0.02	.	13.3909	0.60823	0.0:1.0:0.0:0.0	.	52	Q96ND8	ZN583_HUMAN	T	52	ENSP00000444291:P52T;ENSP00000291598:P52T;ENSP00000388502:P52T;ENSP00000375657:P52T	ENSP00000291598:P52T	P	+	1	0	ZNF583	61617543	0.221000	0.23642	0.590000	0.28732	0.996000	0.88848	2.819000	0.48049	2.636000	0.89361	0.467000	0.42956	CCA		0.433	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		26	72	1	0	1.06801e-11	1	1.33396e-11	26	72				
C17orf47	284083	broad.mit.edu	37	17	56619325	56619325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56619325C>T	ENST00000321691.3	-	2	1745	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	522										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCAGAGACATCTGAAAGT	0.507																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1564-1566)Gtc>Atc		chromosome 17 open reading frame 47							106.0	92.0	97.0					17																	56619325		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56619325C>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1564G>A	17.37:g.56619325C>T	ENSP00000354874:p.Val522Ile					RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.V522I	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			2	1745	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		522					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1564G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600553	0.87055	.	.	ENSG00000181013	ENST00000321691	T	0.51817	0.69	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000024	T	0.58906	0.2155	L	0.34521	1.04	0.49051	D	0.999745	D	0.89917	1.0	D	0.83275	0.996	T	0.58758	-0.7580	10	0.56958	D	0.05	-13.0568	15.5247	0.75894	0.0:1.0:0.0:0.0	.	522	Q8NEP4	CQ047_HUMAN	I	522	ENSP00000354874:V522I	ENSP00000354874:V522I	V	-	1	0	C17orf47	53974324	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.993000	0.29680	2.750000	0.94351	0.561000	0.74099	GTC		0.507	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		18	33	0	0	0	1	0	18	33				
KIN	22944	broad.mit.edu	37	10	7820976	7820976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7820976C>T	ENST00000379562.4	-	5	430	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	KIN_ENST00000543003.1_Missense_Mutation_p.C22Y|KIN_ENST00000535925.1_Missense_Mutation_p.C128Y	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTCCACTTTGCACAAGCCTTA	0.393																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.(382-384)tGc>tAc		KIN, antigenic determinant of recA protein homolog (mouse)							81.0	89.0	86.0					10																	7820976		2203	4300	6503	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7820976C>T	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.383G>A	10.37:g.7820976C>T	ENSP00000368881:p.Cys128Tyr					KIN_ENST00000543003.1_Missense_Mutation_p.C22Y|KIN_ENST00000535925.1_Missense_Mutation_p.C128Y	p.C128Y			O60870	KIN17_HUMAN			5	430	-			128						Missense_Mutation	SNP	ENST00000379562.4	37	c.383G>A	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251248	0.80135	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	6.17	5.27	0.74061	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.86431	0.5931	M	0.94142	3.5	0.80722	D	1	D;B;B	0.89917	1.0;0.045;0.045	D;B;B	0.76575	0.988;0.056;0.056	D	0.90051	0.4149	9	0.62326	D	0.03	-13.1434	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	22;128;128	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	Y	128;128;22	.	ENSP00000368881:C128Y	C	-	2	0	KIN	7860982	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.672000	0.68102	1.620000	0.50308	0.655000	0.94253	TGC		0.393	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		25	53	0	0	0	1	0	25	53				
FAN1	22909	broad.mit.edu	37	15	31202936	31202936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31202936G>A	ENST00000362065.4	+	4	1786	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	FAN1_ENST00000565466.1_Missense_Mutation_p.A499T|FAN1_ENST00000561594.1_Missense_Mutation_p.A499T|FAN1_ENST00000561607.1_Missense_Mutation_p.A499T	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	499					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCTGGTGGACGCCTTTCTCAA	0.458								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1495-1497)Gcc>Acc	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							90.0	86.0	88.0					15																	31202936		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202936G>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1495G>A	15.37:g.31202936G>A	ENSP00000354497:p.Ala499Thr					FAN1_ENST00000561594.1_Missense_Mutation_p.A499T|FAN1_ENST00000565466.1_Missense_Mutation_p.A499T|FAN1_ENST00000561607.1_Missense_Mutation_p.A499T	p.A499T	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			4	1786	+			499					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1495G>A	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	7.902	0.734677	0.15574	.	.	ENSG00000198690	ENST00000362065	T	0.38077	1.16	5.59	-3.47	0.04753	.	0.571256	0.19468	N	0.113540	T	0.22360	0.0539	L	0.48986	1.54	0.09310	N	1	B;B;B	0.23490	0.025;0.014;0.086	B;B;B	0.14023	0.007;0.007;0.01	T	0.15009	-1.0452	10	0.23891	T	0.37	-2.4435	5.2302	0.15418	0.3349:0.0:0.4342:0.2309	.	499;499;499	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	T	499	ENSP00000354497:A499T	ENSP00000354497:A499T	A	+	1	0	FAN1	28990228	0.694000	0.27738	0.008000	0.14137	0.906000	0.53458	2.599000	0.46231	-0.516000	0.06470	-0.252000	0.11476	GCC		0.458	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		12	44	0	0	0	1	0	12	44				
ALB	213	broad.mit.edu	37	4	74284028	74284028	+	Splice_Site	SNP	C	C	T	rs149079814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74284028C>T	ENST00000503124.1	+	10	1409	c.1202C>T	c.(1201-1203)aCt>aTt	p.T401I	ALB_ENST00000415165.2_Splice_Site_p.T359I|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000295897.4_Splice_Site_p.T551I|ALB_ENST00000509063.1_Splice_Site_p.T551I|ALB_ENST00000401494.3_Splice_Site_p.T436I			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGAAACAAACGTGAGGAGTA	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		19139	0.001		0.0	False		,,,				2504	0.0					ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.e12+1		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						91.0	89.0	90.0					4																	74284028		2203	4300	6503	SO:0001630	splice_region_variant	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74284028C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1202+1C>T	4.37:g.74284028C>T						ALB_ENST00000415165.2_Splice_Site_p.T359_splice|ALB_ENST00000509063.1_Splice_Site_p.T551_splice|ALB_ENST00000401494.3_Splice_Site_p.T436_splice|ALB_ENST00000503124.1_Splice_Site_p.T401_splice|ALB_ENST00000505649.1_3'UTR	p.T551_splice	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1741	+	Breast(15;0.00102)		551	T -> A (in Ref. 11; CAH18185).		Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000503124.1	37	c.1652_splice		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.83	2.057031	0.36277	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.84	-1.19	0.09585	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.663922	0.14605	N	0.309390	T	0.67581	0.2908	M	0.76574	2.34	0.39374	D	0.966143	D;P;D;D;P	0.60575	0.972;0.913;0.988;0.984;0.913	B;B;P;P;B	0.47573	0.377;0.383;0.512;0.55;0.357	T	0.66544	-0.5897	10	0.87932	D	0	-0.1315	3.4649	0.07547	0.1097:0.5374:0.1072:0.2458	.	436;359;401;551;551	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	I	551;359;338;401;551;436;560	ENSP00000295897:T551I;ENSP00000401820:T359I;ENSP00000421027:T401I;ENSP00000422784:T551I;ENSP00000384695:T436I	ENSP00000295897:T551I	T	+	2	0	ALB	74502892	0.009000	0.17119	0.387000	0.26183	0.383000	0.30230	-0.363000	0.07593	-0.262000	0.09392	0.650000	0.86243	ACT		0.358	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	Missense_Mutation	15	20	0	0	0	1	0	15	20				
PITX2	5308	broad.mit.edu	37	4	111553567	111553567	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111553567T>C	ENST00000354925.2	-	5	1821	c.116A>G	c.(115-117)gAc>gGc	p.D39G	PITX2_ENST00000394595.3_Missense_Mutation_p.D39G|PITX2_ENST00000394598.2_Missense_Mutation_p.D39G|PITX2_ENST00000355080.5_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	39					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTCAGGAGAGTCCGTGAACTC	0.657																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(115-117)gAc>gGc		paired-like homeodomain 2							62.0	72.0	69.0					4																	111553567		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111553567T>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.116A>G	4.37:g.111553567T>C	ENSP00000347004:p.Asp39Gly					PITX2_ENST00000394598.2_Missense_Mutation_p.D39G|PITX2_ENST00000394595.3_Missense_Mutation_p.D39G|PITX2_ENST00000355080.5_Intron	p.D39G	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1821	-		Hepatocellular(203;0.217)	39					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.116A>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228321	0.39399	.	.	ENSG00000164093	ENST00000394598;ENST00000354925;ENST00000394595;ENST00000511837	D;D;D	0.93076	-2.95;-2.95;-3.16	4.83	3.61	0.41365	.	.	.	.	.	D	0.87018	0.6073	N	0.19112	0.55	0.24505	N	0.994235	B	0.15473	0.013	B	0.10450	0.005	T	0.76274	-0.3019	9	0.36615	T	0.2	.	10.7515	0.46211	0.0:0.0:0.1599:0.8401	.	39	Q99697	PITX2_HUMAN	G	39	ENSP00000378097:D39G;ENSP00000347004:D39G;ENSP00000421454:D39G	ENSP00000347004:D39G	D	-	2	0	PITX2	111773016	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	4.444000	0.60001	0.839000	0.34971	0.528000	0.53228	GAC		0.657	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			19	31	0	0	0	1	0	19	31				
GABRE	2564	broad.mit.edu	37	X	151138183	151138183	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151138183C>A	ENST00000370328.3	-	3	353	c.300G>T	c.(298-300)gaG>gaT	p.E100D	GABRE_ENST00000370325.1_Missense_Mutation_p.E100D|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	100					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGACGGAGATCTCAACAGTGA	0.522																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(298-300)gaG>gaT		gamma-aminobutyric acid (GABA) A receptor, epsilon							97.0	81.0	86.0					X																	151138183		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138183C>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.300G>T	X.37:g.151138183C>A	ENSP00000359353:p.Glu100Asp					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E100D	p.E100D			P78334	GBRE_HUMAN			3	353	-	Acute lymphoblastic leukemia(192;6.56e-05)		100					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.300G>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.571154	0.00895	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79454	-1.27;-1.27	5.28	2.03	0.26663	Neurotransmitter-gated ion-channel ligand-binding (3);	0.129041	0.34555	N	0.003867	T	0.57330	0.2046	N	0.03281	-0.365	0.09310	N	0.999998	D	0.56746	0.977	P	0.57283	0.817	T	0.59757	-0.7394	10	0.02654	T	1	.	3.1188	0.06383	0.2672:0.4983:0.0:0.2345	.	100	P78334	GBRE_HUMAN	D	100	ENSP00000359353:E100D;ENSP00000359350:E100D	ENSP00000359350:E100D	E	-	3	2	GABRE	150888839	0.345000	0.24835	0.000000	0.03702	0.023000	0.10783	0.426000	0.21363	0.528000	0.28580	0.597000	0.82753	GAG		0.522	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		21	34	1	0	3.62473e-10	1	4.44982e-10	21	34				
DSP	1832	broad.mit.edu	37	6	7583868	7583868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583868C>T	ENST00000379802.3	+	24	6714	c.6373C>T	c.(6373-6375)Ctg>Ttg	p.L2125L	DSP_ENST00000418664.2_Silent_p.L1526L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2125	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATGCGCCTGCTGGAAGCCCA	0.458																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6373-6375)Ctg>Ttg		desmoplakin							58.0	64.0	62.0					6																	7583868		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583868C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6373C>T	6.37:g.7583868C>T						DSP_ENST00000418664.2_Silent_p.L1526L	p.L2125L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6714	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2125			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.6373C>T	CCDS4501.1																																																																																				0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		36	43	0	0	0	1	0	36	43				
ARHGEF17	9828	broad.mit.edu	37	11	73020777	73020777	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020777C>A	ENST00000263674.3	+	1	1444	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	365					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATGTCTGACTCTGTGGGAGGA	0.642																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1093-1095)tCt>tAt		Rho guanine nucleotide exchange factor (GEF) 17							54.0	48.0	50.0					11																	73020777		2165	4250	6415	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020777C>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1094C>A	11.37:g.73020777C>A	ENSP00000263674:p.Ser365Tyr						p.S365Y	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1444	+			365					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1094C>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	8.389	0.839290	0.16891	.	.	ENSG00000110237	ENST00000263674	T	0.60548	0.18	4.85	1.7	0.24286	.	0.988832	0.08211	N	0.980816	T	0.37073	0.0990	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.34204	-0.9838	10	0.72032	D	0.01	-1.3937	8.8859	0.35402	0.1412:0.5518:0.3069:0.0	.	365	Q96PE2	ARHGH_HUMAN	Y	365	ENSP00000263674:S365Y	ENSP00000263674:S365Y	S	+	2	0	ARHGEF17	72698425	0.000000	0.05858	0.893000	0.35052	0.280000	0.26924	0.303000	0.19210	1.000000	0.39049	0.462000	0.41574	TCT		0.642	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		6	83	1	0	0.00116845	1	0.00124821	6	83				
CNOT6L	246175	broad.mit.edu	37	4	78695850	78695850	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78695850T>C	ENST00000504123.1	-	3	278	c.148A>G	c.(148-150)Aca>Gca	p.T50A	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T50A			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	50	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAAAGTGATGTACTTAGGCTC	0.418																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(148-150)Aca>Gca		CCR4-NOT transcription complex, subunit 6-like							70.0	65.0	67.0					4																	78695850		1951	4159	6110	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78695850T>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.148A>G	4.37:g.78695850T>C	ENSP00000424896:p.Thr50Ala					CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T50A	p.T50A			Q96LI5	CNO6L_HUMAN			3	278	-			50					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.148A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.56|12.56	1.976059|1.976059	0.34848|0.34848	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441|ENST00000515506	T;T;T;T|.	0.79033|.	-1.23;-1.23;-1.23;-1.23|.	4.19|4.19	4.19|4.19	0.49359|0.49359	.|.	0.048471|.	0.85682|.	D|.	0.000000|.	T|T	0.50051|0.50051	0.1593|0.1593	N|N	0.22421|0.22421	0.69|0.69	0.41518|0.41518	D|D	0.988385|0.988385	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.46693|0.46693	-0.9173|-0.9173	10|5	0.39692|.	T|.	0.17|.	-2.953|-2.953	13.5643|13.5643	0.61807|0.61807	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	50;50|.	B4E2S0;Q96LI5|.	.;CNO6L_HUMAN|.	A|C	50;50;57;50|78	ENSP00000424896:T50A;ENSP00000264903:T50A;ENSP00000425571:T57A;ENSP00000426269:T50A|.	ENSP00000264903:T50A|.	T|Y	-|-	1|2	0|0	CNOT6L|CNOT6L	78914874|78914874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.232000|3.232000	0.51302|0.51302	1.646000|1.646000	0.50622|0.50622	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.418	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			5	6	0	0	0	1	0	5	6				
CSMD3	114788	broad.mit.edu	37	8	113275879	113275879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113275879G>A	ENST00000297405.5	-	61	10095	c.9851C>T	c.(9850-9852)cCg>cTg	p.P3284L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3214L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3115L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3244L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3284	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3284Q(1)|p.P3244L(1)|p.P3284L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGCACTGCGGTACTTCACC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			3	Substitution - Missense(3)	p.P3284Q(1)|p.P3244L(1)|p.P3284L(1)	endometrium(2)|upper_aerodigestive_tract(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9850-9852)cCg>cTg		CUB and Sushi multiple domains 3							90.0	76.0	81.0					8																	113275879		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113275879G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9851C>T	8.37:g.113275879G>A	ENSP00000297405:p.Pro3284Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.P3214L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3244L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3115L	p.P3284L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			61	10095	-			3284			Sushi 25.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9851C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929300	0.92389	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.93446	0.7909	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95289	0.8393	10	0.66056	D	0.02	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	3115;3284;3244	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3244;3284;2554;3115;3214	ENSP00000345799:P3244L;ENSP00000297405:P3284L;ENSP00000341558:P2554L;ENSP00000412263:P3115L;ENSP00000343124:P3214L	ENSP00000297405:P3284L	P	-	2	0	CSMD3	113345055	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	9.856000	0.99531	2.713000	0.92767	0.655000	0.94253	CCG		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	15	0	0	0	1	0	17	15				
PMS2CL	441194	broad.mit.edu	37	7	6785753	6785753	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6785753G>A	ENST00000486256.1	+	0	1897					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		TGTTAATGAAGCTGTTCTGAT	0.338																																						ENST00000486256.1																			0																																																			0							g.chr7:6785753G>A	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6785753G>A								NR_002217.1						0	1897	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.338	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		9	22	0	0	0	1	0	9	22				
NUP93	9688	broad.mit.edu	37	16	56839423	56839423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56839423G>A	ENST00000308159.5	+	5	489	c.368G>A	c.(367-369)gGc>gAc	p.G123D	NUP93_ENST00000569842.1_Missense_Mutation_p.G123D|NUP93_ENST00000542526.1_5'UTR|NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000569595.1_3'UTR	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	123					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGACCTTCGGCATGGCTGAG	0.483																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(367-369)gGc>gAc		nucleoporin 93kDa							90.0	85.0	87.0					16																	56839423		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56839423G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.368G>A	16.37:g.56839423G>A	ENSP00000310668:p.Gly123Asp					NUP93_ENST00000542526.1_5'UTR|NUP93_ENST00000308159.5_Missense_Mutation_p.G123D|NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000569595.1_3'UTR	p.G123D			Q8N1F7	NUP93_HUMAN			5	464	+			123					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.368G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	8.356	0.832095	0.16820	.	.	ENSG00000102900	ENST00000308159	T	0.40476	1.03	5.19	3.06	0.35304	.	0.316402	0.34879	N	0.003609	T	0.21022	0.0506	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04509	-1.0946	10	0.21540	T	0.41	-9.1137	10.7389	0.46141	0.0:0.432:0.4449:0.1231	.	123	Q8N1F7	NUP93_HUMAN	D	123	ENSP00000310668:G123D	ENSP00000310668:G123D	G	+	2	0	NUP93	55396924	0.997000	0.39634	0.995000	0.50966	0.915000	0.54546	1.774000	0.38573	1.103000	0.41568	0.561000	0.74099	GGC		0.483	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		36	31	0	0	0	1	0	36	31				
DNMT3B	1789	broad.mit.edu	37	20	31386361	31386361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31386361C>T	ENST00000328111.2	+	15	1907	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L	DNMT3B_ENST00000344505.4_Missense_Mutation_p.P509L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P521L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P433L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P467L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	529	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTGTCTCCCGCAGCGCTGT	0.627																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1585-1587)cCg>cTg		DNA (cytosine-5-)-methyltransferase 3 beta							44.0	48.0	47.0					20																	31386361		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31386361C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1586C>T	20.37:g.31386361C>T	ENSP00000328547:p.Pro529Leu					DNMT3B_ENST00000456297.2_Missense_Mutation_p.P433L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P521L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P509L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P467L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000375623.4_3'UTR	p.P529L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			15	1907	+			529			ADD.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1586C>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191605	0.58017	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.76	3.71	0.42584	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.053022	0.85682	D	0.000000	T	0.77579	0.4151	M	0.83603	2.65	0.80722	D	1	B;B;B;B;B;B;B	0.31949	0.064;0.064;0.032;0.022;0.105;0.022;0.348	B;B;B;B;B;B;B	0.27380	0.014;0.014;0.008;0.033;0.032;0.02;0.079	T	0.79895	-0.1610	10	0.52906	T	0.07	-16.4728	13.829	0.63368	0.3789:0.621:0.0:0.0	.	433;467;228;521;509;509;529	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	L	529;509;509;467;433;509;521	ENSP00000328547:P529L;ENSP00000313397:P509L;ENSP00000337764:P509L;ENSP00000403169:P467L;ENSP00000412305:P433L;ENSP00000345105:P509L;ENSP00000201963:P521L	ENSP00000201963:P521L	P	+	2	0	DNMT3B	30850022	0.945000	0.32115	0.186000	0.23195	0.947000	0.59692	2.552000	0.45828	1.557000	0.49525	0.650000	0.86243	CCG		0.627	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		8	39	0	0	0	1	0	8	39				
ATOX1	475	broad.mit.edu	37	5	151125971	151125971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151125971C>T	ENST00000524142.1	-	4	479	c.122G>A	c.(121-123)tGc>tAc	p.C41Y	ATOX1_ENST00000522314.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000522710.1_Missense_Mutation_p.C41Y|ATOX1_ENST00000313115.6_Missense_Mutation_p.C41Y|ATOX1_ENST00000520382.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000521264.1_Missense_Mutation_p.C46Y			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	41	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)|copper-dependent protein binding (GO:0032767)|metallochaperone activity (GO:0016530)						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGATTCAATGCAGACCTTCTT	0.517																																						ENST00000521264.1																			0											c.(136-138)tGc>tAc		antioxidant 1 copper chaperone							147.0	143.0	144.0					5																	151125971		2017	4198	6215	SO:0001583	missense	475				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding	g.chr5:151125971C>T	U70660	CCDS47317.1	5q32	2013-05-01	2013-05-01			ENSG00000177556			798	protein-coding gene	gene with protein product		602270	"""ATX1 (antioxidant protein 1, yeast) homolog 1"", ""ATX1 antioxidant protein 1 homolog (yeast)"""			9083055	Standard	NM_004045		Approved	HAH1	uc003luk.3	O00244		ENST00000524142.1:c.122G>A	5.37:g.151125971C>T	ENSP00000430598:p.Cys41Tyr					ATOX1_ENST00000522710.1_Missense_Mutation_p.C41Y|ATOX1_ENST00000313115.6_Missense_Mutation_p.C41Y|ATOX1_ENST00000520382.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000522314.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000524142.1_Missense_Mutation_p.C41Y	p.C46Y			O00244	ATOX1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	246	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	41			HMA.		A8KAJ8|D3DQI2|Q2M1R6|Q56AP3	Missense_Mutation	SNP	ENST00000524142.1	37	c.137G>A	CCDS47317.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500580	0.00157	.	.	ENSG00000177556	ENST00000521264;ENST00000520382;ENST00000522314;ENST00000524142;ENST00000313115;ENST00000522710	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.28	2.48	0.30137	Heavy metal-associated domain, HMA (3);	0.515679	0.21400	N	0.075167	T	0.66025	0.2748	.	.	.	0.09310	N	0.999999	B	0.10296	0.003	B	0.10450	0.005	T	0.48811	-0.9002	9	0.02654	T	1	-7.0657	10.075	0.42355	0.1439:0.3921:0.464:0.0	.	41	O00244	ATOX1_HUMAN	Y	46;32;32;41;41;41	ENSP00000429366:C46Y;ENSP00000429982:C32Y;ENSP00000430028:C32Y;ENSP00000430598:C41Y;ENSP00000316854:C41Y;ENSP00000429814:C41Y	ENSP00000316854:C41Y	C	-	2	0	ATOX1	151106164	0.754000	0.28360	0.017000	0.16124	0.210000	0.24377	-0.252000	0.08806	0.337000	0.23665	-0.211000	0.12701	TGC		0.517	ATOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373823.2	NM_004045		7	80	0	0	0	1	0	7	80				
UBASH3A	53347	broad.mit.edu	37	21	43857619	43857619	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43857619G>T	ENST00000319294.6	+	11	1446	c.1415G>T	c.(1414-1416)gGt>gTt	p.G472V	UBASH3A_ENST00000398367.1_Missense_Mutation_p.G434V|UBASH3A_ENST00000291535.6_Missense_Mutation_p.G434V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	472	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGGACAGTGGTATCAGAATC	0.537																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1414-1416)gGt>gTt		ubiquitin associated and SH3 domain containing A							124.0	115.0	118.0					21																	43857619		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43857619G>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1415G>T	21.37:g.43857619G>T	ENSP00000317327:p.Gly472Val					UBASH3A_ENST00000398367.1_Missense_Mutation_p.G434V|UBASH3A_ENST00000291535.6_Missense_Mutation_p.G434V	p.G472V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			11	1446	+			472			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1415G>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	9.866	1.197545	0.22037	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.73363	1.21;1.21;-0.74	4.44	3.48	0.39840	Histidine phosphatase superfamily, clade-1 (1);	0.246358	0.28671	N	0.014530	T	0.78861	0.4350	M	0.84219	2.685	0.19300	N	0.99998	D;D;P	0.57571	0.98;0.964;0.926	P;P;P	0.53006	0.715;0.63;0.661	T	0.71321	-0.4628	10	0.56958	D	0.05	-31.862	5.4841	0.16739	0.1097:0.2069:0.6834:0.0	.	434;434;472	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	V	434;472;434	ENSP00000291535:G434V;ENSP00000317327:G472V;ENSP00000381408:G434V	ENSP00000291535:G434V	G	+	2	0	UBASH3A	42730688	0.645000	0.27286	0.082000	0.20525	0.060000	0.15804	2.833000	0.48159	2.025000	0.59659	0.514000	0.50259	GGT		0.537	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		14	31	1	0	1.3612e-06	1	1.57881e-06	14	31				
GJA8	2703	broad.mit.edu	37	1	147380559	147380559	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380559C>T	ENST00000369235.1	+	1	477	c.477C>T	c.(475-477)acC>acT	p.T159T	GJA8_ENST00000240986.4_Silent_p.T159T			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	159					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTTCAAGACCCTCTTTGAAG	0.597																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(475-477)acC>acT		gap junction protein, alpha 8, 50kDa							119.0	117.0	118.0					1																	147380559		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380559C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.477C>T	1.37:g.147380559C>T						GJA8_ENST00000369235.1_Silent_p.T159T	p.T159T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	530	+	all_hematologic(923;0.0276)		159					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.477C>T	CCDS30834.1																																																																																				0.597	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		62	77	0	0	0	1	0	62	77				
ZNF274	10782	broad.mit.edu	37	19	58697164	58697164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58697164G>T	ENST00000326804.4	+	3	578	c.119G>T	c.(118-120)aGg>aTg	p.R40M	ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000345813.3_Missense_Mutation_p.R40M|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	40	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCCTGTACAGGGAAGTGATG	0.498																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(118-120)aGg>aTg		zinc finger protein 274							99.0	105.0	103.0					19																	58697164		2202	4300	6502	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58697164G>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.119G>T	19.37:g.58697164G>T	ENSP00000321209:p.Arg40Met					ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000345813.3_Missense_Mutation_p.R40M|ZNF274_ENST00000597818.1_3'UTR	p.R40M	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	3	578	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	40			KRAB 1.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.119G>T		.	.	.	.	.	.	.	.	.	.	G	19.44	3.828380	0.71143	.	.	ENSG00000171606	ENST00000326804;ENST00000345813	T;T	0.02787	4.16;4.16	4.22	3.19	0.36642	Krueppel-associated box (4);	0.000000	0.38164	N	0.001785	T	0.13200	0.0320	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	T	0.00426	-1.1746	10	0.62326	D	0.03	-17.4096	9.9119	0.41411	0.0983:0.0:0.9017:0.0	.	40;40	Q96GC6-2;Q96GC6	.;ZN274_HUMAN	M	40	ENSP00000321209:R40M;ENSP00000321187:R40M	ENSP00000321209:R40M	R	+	2	0	ZNF274	63388976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.788000	0.38714	1.375000	0.46248	0.655000	0.94253	AGG		0.498	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		5	69	1	0	0.0215528	1	0.0221649	5	69				
CYP39A1	51302	broad.mit.edu	37	6	46620341	46620341	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46620341G>T	ENST00000275016.2	-	0	182				SLC25A27_ENST00000411689.2_5'Flank|SLC25A27_ENST00000452689.2_5'Flank|SLC25A27_ENST00000371347.5_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GCACCTTCCAGAAGCAGAAAA	0.483																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21								cytochrome P450, family 39, subfamily A, polypeptide 1							91.0	94.0	93.0					6																	46620341		2203	4300	6503			51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46620341G>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.-22C>A	6.37:g.46620341G>T								NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			0	182	-								Q5VTT0|Q96FW5	Translation_Start_Site	SNP	ENST00000275016.2	37		CCDS4916.1																																																																																				0.483	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			45	76	1	0	1.00001e-27	1	1.33502e-27	45	76				
FLI1	2313	broad.mit.edu	37	11	128680652	128680652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128680652G>A	ENST00000527786.2	+	9	1617	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	FLI1_ENST00000281428.8_Silent_p.S310S|FLI1_ENST00000534087.2_Silent_p.S343S|FLI1_ENST00000525560.1_Silent_p.S183S|FLI1_ENST00000344954.6_Silent_p.S343S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	376					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGACCGAGTCGTCCATGTACA	0.498			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1027-1029)tcG>tcA		Fli-1 proto-oncogene, ETS transcription factor							94.0	97.0	96.0					11																	128680652		2138	4255	6393	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680652G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1128G>A	11.37:g.128680652G>A						FLI1_ENST00000429175.2_Silent_p.S376S|FLI1_ENST00000281428.8_Silent_p.S310S|FLI1_ENST00000534087.1_Silent_p.S343S|FLI1_ENST00000525560.1_Silent_p.S183S	p.S343S			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1417	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	376					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.1029G>A	CCDS44768.1																																																																																				0.498	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		21	16	0	0	0	1	0	21	16				
MDFI	4188	broad.mit.edu	37	6	41621130	41621130	+	Silent	SNP	C	C	T	rs138239258		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41621130C>T	ENST00000373050.4	+	4	562	c.375C>T	c.(373-375)tgC>tgT	p.C125C				Q99750	MDFI_HUMAN	MyoD family inhibitor	186					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TCCTGGACTGCGCCACCTGTG	0.657																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(373-375)tgC>tgT		MyoD family inhibitor		C		0,4406		0,0,2203	114.0	86.0	96.0		558	1.9	1.0	6	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MDFI	NM_005586.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		186/247	41621130	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621130C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.375C>T	6.37:g.41621130C>T							p.C125C			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	562	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		186						Silent	SNP	ENST00000373050.4	37	c.375C>T																																																																																					0.657	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		29	33	0	0	0	1	0	29	33				
TMEM63B	55362	broad.mit.edu	37	6	44102296	44102296	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44102296A>G	ENST00000259746.9	+	2	159		c.e2-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCCTCTGCCCAGGAGGACCAT	0.642																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.e2-1		transmembrane protein 63B							53.0	37.0	42.0					6																	44102296		2203	4299	6502	SO:0001630	splice_region_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44102296A>G	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.-24-1A>G	6.37:g.44102296A>G						TMEM63B_ENST00000323267.6_Splice_Site				Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		2	159	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)							B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Splice_Site	SNP	ENST00000259746.9	37		CCDS34461.1																																																																																				0.642	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	Intron	5	17	0	0	0	1	0	5	17				
CASC3	22794	broad.mit.edu	37	17	38318393	38318393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38318393G>T	ENST00000264645.7	+	5	821	c.595G>T	c.(595-597)Gag>Tag	p.E199*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	199	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCAAACTCAGGAGGAGGAAGT	0.448																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(595-597)Gag>Tag		cancer susceptibility candidate 3							73.0	72.0	72.0					17																	38318393		2203	4300	6503	SO:0001587	stop_gained	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38318393G>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.595G>T	17.37:g.38318393G>T	ENSP00000264645:p.Glu199*						p.E199*	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			5	821	+			199			Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.		A8K8R0	Nonsense_Mutation	SNP	ENST00000264645.7	37	c.595G>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507454	0.85282	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.86	5.86	0.93980	.	0.192346	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.4747	19.7826	0.96422	0.0:0.0:1.0:0.0	.	.	.	.	X	199	.	ENSP00000264645:E199X	E	+	1	0	CASC3	35571919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.500000	0.73687	2.774000	0.95407	0.609000	0.83330	GAG		0.448	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		5	50	1	0	3.59834e-05	1	4.01776e-05	5	50				
RGAG1	57529	broad.mit.edu	37	X	109695589	109695589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109695589G>A	ENST00000465301.2	+	3	1990	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A582T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	582										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACTAATGACAGCCCAAACCTC	0.498																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1744-1746)Gcc>Acc		retrotransposon gag domain containing 1							114.0	96.0	102.0					X																	109695589		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695589G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1744G>A	X.37:g.109695589G>A	ENSP00000419786:p.Ala582Thr					RGAG1_ENST00000540313.1_Missense_Mutation_p.A582T	p.A582T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1990	+			582					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1744G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124932	0.37533	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.50277	0.75;0.75	3.9	3.01	0.34805	.	0.000000	0.35320	N	0.003284	T	0.46541	0.1398	M	0.65975	2.015	0.34056	D	0.656754	P	0.51351	0.944	P	0.46758	0.526	T	0.59440	-0.7454	9	.	.	.	-3.3347	5.9432	0.19203	0.0:0.2105:0.5689:0.2205	.	582	Q8NET4	RGAG1_HUMAN	T	582	ENSP00000419786:A582T;ENSP00000441452:A582T	.	A	+	1	0	RGAG1	109582245	0.993000	0.37304	0.938000	0.37757	0.575000	0.36095	0.594000	0.24014	0.975000	0.38392	0.544000	0.68410	GCC		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		29	54	0	0	0	1	0	29	54				
GJB6	10804	broad.mit.edu	37	13	20797204	20797204	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20797204C>T	ENST00000356192.6	-	5	1036	c.416G>A	c.(415-417)aGc>aAc	p.S139N	GJB6_ENST00000400065.3_Missense_Mutation_p.S139N|GJB6_ENST00000400066.3_Missense_Mutation_p.S139N|GJB6_ENST00000241124.6_Missense_Mutation_p.S139N	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	139			S -> G. {ECO:0000269|PubMed:10610709}.		apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GAAAAAGATGCTGCTGGTGTA	0.453																																						ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(415-417)aGc>aAc		gap junction protein, beta 6, 30kDa							92.0	81.0	85.0					13																	20797204		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797204C>T	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.416G>A	13.37:g.20797204C>T	ENSP00000348521:p.Ser139Asn					GJB6_ENST00000400066.3_Missense_Mutation_p.S139N|GJB6_ENST00000400065.3_Missense_Mutation_p.S139N|GJB6_ENST00000241124.6_Missense_Mutation_p.S139N	p.S139N	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	1036	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	139		S -> G.			B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.416G>A	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906173	0.72868	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	M	0.75777	2.31	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	D	0.98802	1.0740	10	0.40728	T	0.16	.	18.9412	0.92605	0.0:1.0:0.0:0.0	.	139	O95452	CXB6_HUMAN	N	139	ENSP00000241124:S139N;ENSP00000382938:S139N;ENSP00000382939:S139N;ENSP00000348521:S139N	ENSP00000241124:S139N	S	-	2	0	GJB6	19695204	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.848000	0.62874	2.450000	0.82876	0.655000	0.94253	AGC		0.453	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			11	26	0	0	0	1	0	11	26				
ZBTB11	27107	broad.mit.edu	37	3	101370464	101370464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101370464C>T	ENST00000312938.4	-	11	3288	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	903					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R903H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGACATGGCGTTTTAGAGA	0.423																																						ENST00000312938.4																			1	Substitution - Missense(1)	p.R903H(1)	endometrium(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2707-2709)cGc>cAc		zinc finger and BTB domain containing 11							89.0	91.0	90.0					3																	101370464		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370464C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2708G>A	3.37:g.101370464C>T	ENSP00000326200:p.Arg903His						p.R903H	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			11	3288	-			903					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2708G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849075	0.91277	.	.	ENSG00000066422	ENST00000312938	T	0.07567	3.18	5.81	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.01062	-1.1464	10	0.51188	T	0.08	-8.4775	16.6963	0.85336	0.0:0.8703:0.1296:0.0	.	903	O95625	ZBT11_HUMAN	H	903	ENSP00000326200:R903H	ENSP00000326200:R903H	R	-	2	0	ZBTB11	102853154	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.434000	0.80377	1.423000	0.47198	0.555000	0.69702	CGC		0.423	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		5	68	0	0	0	1	0	5	68				
DPYSL4	10570	broad.mit.edu	37	10	134015567	134015567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015567G>A	ENST00000338492.4	+	11	1392	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	DPYSL4_ENST00000368629.1_Missense_Mutation_p.V310I|DPYSL4_ENST00000368627.1_Missense_Mutation_p.V310I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	410					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGCTGACCTGGTCATATGGAA	0.547																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1228-1230)Gtc>Atc		dihydropyrimidinase-like 4							102.0	100.0	101.0					10																	134015567		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134015567G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1228G>A	10.37:g.134015567G>A	ENSP00000339850:p.Val410Ile					DPYSL4_ENST00000368627.1_Missense_Mutation_p.V310I|DPYSL4_ENST00000368629.1_Missense_Mutation_p.V310I	p.V410I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	11	1392	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	410					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1228G>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009252	0.54361	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	T;D;D	0.90844	-1.38;-2.74;-2.74	4.58	4.58	0.56647	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.065176	0.64402	D	0.000011	D	0.90106	0.6909	M	0.81682	2.555	0.27810	N	0.942177	B	0.11235	0.004	B	0.15870	0.014	D	0.84934	0.0861	10	0.66056	D	0.02	-24.9376	12.1212	0.53893	0.0825:0.0:0.9175:0.0	.	410	O14531	DPYL4_HUMAN	I	410;310;310	ENSP00000339850:V410I;ENSP00000357618:V310I;ENSP00000357616:V310I	ENSP00000339850:V410I	V	+	1	0	DPYSL4	133865557	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.137000	0.64789	2.374000	0.81015	0.650000	0.86243	GTC		0.547	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			18	51	0	0	0	1	0	18	51				
IGLV4-3	28786	broad.mit.edu	37	22	23214094	23214094	+	RNA	SNP	G	G	A	rs374625187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23214094G>A	ENST00000390318.2	+	0	283									immunoglobulin lambda variable 4-3																		ATCCCCGATCGCTTCATGGGC	0.552																																						ENST00000390318.2																			0															G		1,4059		0,1,2029	110.0	114.0	113.0			2.4	0.0	22		113	2,8346		0,2,4172	no	intergenic				0,3,6201	AA,AG,GG		0.024,0.0246,0.0242			23214094	3,12405	2030	4174	6204			0							g.chr22:23214094G>A	X57828		22q11.2	2012-02-08			ENSG00000211672	ENSG00000211672		"""Immunoglobulins / IGL locus"""	5919	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151244		22.37:g.23214094G>A														0	283	+									RNA	SNP	ENST00000390318.2	37																																																																																						0.552	IGLV4-3-001	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321849.1	NG_000002		53	66	0	0	0	1	0	53	66				
BRCA1	672	broad.mit.edu	37	17	41244758	41244758	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244758A>G	ENST00000357654.3	-	10	2908	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	BRCA1_ENST00000354071.3_Silent_p.P930P|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Silent_p.P930P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.P883P|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Silent_p.P930P|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000309486.4_Silent_p.P634P	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	930					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACCAACCACAGGAAAGCCTG	0.388			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(1900-1902)ccT>ccC	Homologous recombination	breast cancer 1, early onset							127.0	127.0	127.0					17																	41244758		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244758A>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2790T>C	17.37:g.41244758A>G		TCGA Ovarian(2;0.000030)				BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Silent_p.P930P|BRCA1_ENST00000354071.3_Silent_p.P930P|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Silent_p.P930P|BRCA1_ENST00000357654.3_Silent_p.P930P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.P883P|BRCA1_ENST00000491747.2_Intron	p.P634P	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	2929	-		Breast(137;0.000717)	930					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.1902T>C	CCDS11453.1																																																																																				0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		14	125	0	0	0	1	0	14	125				
DDX46	9879	broad.mit.edu	37	5	134152280	134152280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134152280G>A	ENST00000354283.4	+	19	2732	c.2597G>A	c.(2596-2598)gGc>gAc	p.G866D	DDX46_ENST00000452510.2_Missense_Mutation_p.G866D			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	866					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAATTTGGGCATCGAGTCT	0.368																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2596-2598)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							43.0	45.0	44.0					5																	134152280		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134152280G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2597G>A	5.37:g.134152280G>A	ENSP00000346236:p.Gly866Asp					DDX46_ENST00000354283.4_Missense_Mutation_p.G866D	p.G866D	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		19	2755	+			866					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2597G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157387	0.57259	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26957	1.73;1.7	5.93	5.93	0.95920	.	0.046961	0.85682	D	0.000000	T	0.27205	0.0667	L	0.41961	1.31	0.80722	D	1	B	0.28324	0.207	B	0.28553	0.091	T	0.02263	-1.1186	10	0.26408	T	0.33	-10.3018	20.3397	0.98756	0.0:0.0:1.0:0.0	.	866	Q7L014	DDX46_HUMAN	D	866	ENSP00000416534:G866D;ENSP00000346236:G866D	ENSP00000346236:G866D	G	+	2	0	DDX46	134180179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.687000	0.98667	2.803000	0.96430	0.585000	0.79938	GGC		0.368	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		11	23	0	0	0	1	0	11	23				
CRISPLD2	83716	broad.mit.edu	37	16	84872224	84872224	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84872224C>T	ENST00000262424.5	+	2	347	c.123C>T	c.(121-123)aaC>aaT	p.N41N	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000569090.1_Silent_p.N41N|CRISPLD2_ENST00000567845.1_Silent_p.N41N|CRISPLD2_ENST00000564567.1_Silent_p.N41N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	41					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						ACCAGCACAACGAGTCTCACT	0.607																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(121-123)aaC>aaT		cysteine-rich secretory protein LCCL domain containing 2							121.0	110.0	114.0					16																	84872224		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84872224C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.123C>T	16.37:g.84872224C>T						CRISPLD2_ENST00000564567.1_Silent_p.N41N|CRISPLD2_ENST00000569090.1_Silent_p.N41N|CRISPLD2_ENST00000567845.1_Silent_p.N41N|CRISPLD2_ENST00000566431.1_3'UTR	p.N41N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			2	347	+			41					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.123C>T	CCDS10949.1																																																																																				0.607	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		23	59	0	0	0	1	0	23	59				
OAZ2	4947	broad.mit.edu	37	15	64982604	64982604	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64982604C>A	ENST00000326005.6	-	4	554	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.D108Y|OAZ2_ENST00000559753.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	108					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	AATAATCCATCTGGGATTTCT	0.488																																						ENST00000326005.6																			0											c.(322-324)Gat>Tat		ornithine decarboxylase antizyme 2	L-Ornithine(DB00129)						185.0	179.0	181.0					15																	64982604		1876	4112	5988	SO:0001583	missense	4947				polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding	g.chr15:64982604C>A	AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.322G>T	15.37:g.64982604C>A	ENSP00000463013:p.Asp108Tyr					OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.D108Y	p.D108Y			O95190	OAZ2_HUMAN			4	554	-			108						Missense_Mutation	SNP	ENST00000326005.6	37	c.322G>T	CCDS58372.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058726	0.55325	.	.	ENSG00000180304	ENST00000326005;ENST00000403937	.	.	.	5.84	5.84	0.93424	Acyl-CoA N-acyltransferase (1);	0.135982	0.64402	D	0.000002	T	0.61035	0.2315	L	0.29908	0.895	0.80722	D	1	P	0.50710	0.938	P	0.52109	0.69	T	0.62153	-0.6914	9	0.59425	D	0.04	.	20.1434	0.98067	0.0:1.0:0.0:0.0	.	108	O95190	OAZ2_HUMAN	Y	106	.	ENSP00000316264:D106Y	D	-	1	0	OAZ2	62769657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.355000	0.44107	2.769000	0.95229	0.563000	0.77884	GAT		0.488	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418707.2	NM_002537		12	163	1	0	5.50884e-06	1	6.28354e-06	12	163				
TRPA1	8989	broad.mit.edu	37	8	72964986	72964986	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:72964986G>T	ENST00000262209.4	-	14	1866	c.1659C>A	c.(1657-1659)caC>caA	p.H553Q	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	553					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGCAGCAAAGTGAAGTGCAG	0.458																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1657-1659)caC>caA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						118.0	101.0	107.0					8																	72964986		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964986G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1659C>A	8.37:g.72964986G>T	ENSP00000262209:p.His553Gln					RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	p.H553Q	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1866	-			553					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1659C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087035	0.36855	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71103	-0.54;-0.54	4.98	3.19	0.36642	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.88570	2.965	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.83117	-0.0120	10	0.62326	D	0.03	-13.6015	8.3343	0.32206	0.3055:0.0:0.6945:0.0	.	553	O75762	TRPA1_HUMAN	Q	405;553	ENSP00000428151:H405Q;ENSP00000262209:H553Q	ENSP00000262209:H553Q	H	-	3	2	TRPA1	73127540	1.000000	0.71417	0.992000	0.48379	0.190000	0.23558	1.337000	0.33862	0.615000	0.30124	-0.224000	0.12420	CAC		0.458	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		10	67	1	0	9.70103e-10	1	1.18443e-09	10	67				
LRRTM4	80059	broad.mit.edu	37	2	77745830	77745830	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:77745830T>C	ENST00000409093.1	-	3	1501	c.1165A>G	c.(1165-1167)Atc>Gtc	p.I389V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I390V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.I390V|LRRTM4_ENST00000409088.3_Missense_Mutation_p.I389V			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	389					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTTTGAAGATGGTAGGTCTA	0.473																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1165-1167)Atc>Gtc		leucine rich repeat transmembrane neuronal 4							153.0	146.0	148.0					2																	77745830		1882	4110	5992	SO:0001583	missense	80059					integral to membrane		g.chr2:77745830T>C	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1165A>G	2.37:g.77745830T>C	ENSP00000386357:p.Ile389Val					LRRTM4_ENST00000409884.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.I390V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I390V	p.I389V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1579	-			389					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1165A>G	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	2.322	-0.355362	0.05138	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.68	-5.11	0.02901	.	1.079410	0.06948	N	0.814007	T	0.49541	0.1563	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30297	-0.9983	10	0.14656	T	0.56	.	1.7445	0.02959	0.4396:0.1088:0.1048:0.3468	.	390;389;389	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	V	390;389;389;389;390	ENSP00000387228:I390V;ENSP00000387297:I389V;ENSP00000386357:I389V;ENSP00000386236:I389V;ENSP00000386286:I390V	ENSP00000386236:I389V	I	-	1	0	LRRTM4	77599338	0.000000	0.05858	0.021000	0.16686	0.769000	0.43574	-1.452000	0.02385	-0.588000	0.05882	0.533000	0.62120	ATC		0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	52	0	0	0	1	0	4	52				
ATG16L1	55054	broad.mit.edu	37	2	234201945	234201945	+	Missense_Mutation	SNP	C	C	A	rs147191546		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201945C>A	ENST00000392017.4	+	17	1929	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	ATG16L1_ENST00000392018.1_Missense_Mutation_p.L575M|ATG16L1_ENST00000373525.5_Missense_Mutation_p.L379M|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L539M|ATG16L1_ENST00000347464.5_Missense_Mutation_p.L395M	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	558					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGAGGGCTCTCTGTATATCTG	0.517																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(1672-1674)Ctg>Atg		autophagy related 16-like 1 (S. cerevisiae)							135.0	126.0	129.0					2																	234201945		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234201945C>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1672C>A	2.37:g.234201945C>A	ENSP00000375872:p.Leu558Met					ATG16L1_ENST00000392018.1_Missense_Mutation_p.L575M|ATG16L1_ENST00000347464.5_Missense_Mutation_p.L395M|ATG16L1_ENST00000373525.5_Missense_Mutation_p.L379M|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L539M	p.L558M	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	17	1929	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	558					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.1672C>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436522	0.62955	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	L	0.45470	1.425	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	0.988;0.999;0.994;1.0;0.996	T	0.77354	-0.2619	10	0.87932	D	0	.	19.3983	0.94617	0.0:1.0:0.0:0.0	.	512;539;379;558;395	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	M	558;395;379;539;575;217	ENSP00000375872:L558M;ENSP00000318259:L395M;ENSP00000362625:L379M;ENSP00000375875:L539M;ENSP00000375873:L575M	ENSP00000334016:L217M	L	+	1	2	ATG16L1	233866684	0.997000	0.39634	0.143000	0.22291	0.534000	0.34807	3.584000	0.53936	2.578000	0.87016	0.591000	0.81541	CTG		0.517	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		18	47	1	0	1.96292e-10	1	2.41709e-10	18	47				
CEP135	9662	broad.mit.edu	37	4	56877583	56877583	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877583C>A	ENST00000257287.4	+	20	2635	c.2511C>A	c.(2509-2511)atC>atA	p.I837I		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	837					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TGTAGGAAATCTCATTGGAAT	0.323																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2509-2511)atC>atA		centrosomal protein 135kDa							71.0	73.0	73.0					4																	56877583		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56877583C>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2511C>A	4.37:g.56877583C>A							p.I837I	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			20	2635	+	Glioma(25;0.08)|all_neural(26;0.101)		837					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.2511C>A	CCDS33986.1																																																																																				0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		17	21	1	0	3.51602e-12	1	4.4132e-12	17	21				
ROBO1	6091	broad.mit.edu	37	3	78763663	78763663	+	Missense_Mutation	SNP	C	C	T	rs545722249		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78763663C>T	ENST00000464233.1	-	8	1042	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	ROBO1_ENST00000495273.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000436010.2_Missense_Mutation_p.R271Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	310	Ig-like C2-type 3.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGATCATCTCGGATTTCATA	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18196	0.0		0.0	False		,,,				2504	0.0					ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(811-813)cGa>cAa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							70.0	68.0	69.0					3																	78763663		1922	4133	6055	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78763663C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.929G>A	3.37:g.78763663C>T	ENSP00000420321:p.Arg310Gln					ROBO1_ENST00000495273.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000464233.1_Missense_Mutation_p.R310Q	p.R271Q			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	6	1809	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	310			Ig-like C2-type 3.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.812G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665570	0.88251	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.55	5.55	0.83447	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054993	0.85682	D	0.000000	T	0.69797	0.3151	N	0.16790	0.44	0.53688	D	0.999979	D;D;P;P	0.89917	0.977;1.0;0.803;0.765	P;D;B;B	0.66716	0.701;0.946;0.435;0.23	T	0.68413	-0.5415	9	.	.	.	.	19.4939	0.95064	0.0:1.0:0.0:0.0	.	310;271;271;271	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	Q	271;271;310;271;271;310	ENSP00000406043:R271Q;ENSP00000420321:R310Q;ENSP00000420637:R271Q;ENSP00000417992:R271Q	.	R	-	2	0	ROBO1	78846353	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.644000	0.67902	2.606000	0.88127	0.563000	0.77884	CGA		0.378	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		14	17	0	0	0	1	0	14	17				
ARID1B	57492	broad.mit.edu	37	6	157517441	157517441	+	Silent	SNP	C	C	T	rs372767127		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157517441C>T	ENST00000350026.5	+	15	3967	c.3966C>T	c.(3964-3966)taC>taT	p.Y1322Y	ARID1B_ENST00000275248.4_Silent_p.Y1317Y|ARID1B_ENST00000367148.1_Silent_p.Y1375Y|ARID1B_ENST00000346085.5_Silent_p.Y1335Y	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1322					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAGCCAGTTACGACCGAAGGT	0.502																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4003-4005)taC>taT		AT rich interactive domain 1B (SWI1-like)		C	,	1,4405	2.1+/-5.4	0,1,2202	122.0	123.0	123.0		3966,4005	-7.5	0.0	6		123	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,	1322/2237,1335/2250	157517441	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157517441C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3966C>T	6.37:g.157517441C>T						ARID1B_ENST00000350026.5_Silent_p.Y1322Y|ARID1B_ENST00000275248.4_Silent_p.Y1317Y|ARID1B_ENST00000367148.1_Silent_p.Y1375Y	p.Y1335Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	16	4006	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1322					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4005C>T	CCDS5251.2																																																																																				0.502	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	96	0	0	0	1	0	4	96				
TRAPPC5	126003	broad.mit.edu	37	19	7747556	7747556	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747556C>T	ENST00000317378.5	+	2	604	c.417C>T	c.(415-417)tgC>tgT	p.C139C	CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Silent_p.C139C|TRAPPC5_ENST00000426877.2_Silent_p.C139C|TRAPPC5_ENST00000595985.1_Silent_p.C72C	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	139					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						CGCTCAACTGCGCCAGCTTCA	0.627																																						ENST00000317378.5																			0				NS(1)|lung(2)	3						c.(415-417)tgC>tgT		trafficking protein particle complex 5							32.0	36.0	35.0					19																	7747556		2183	4272	6455	SO:0001819	synonymous_variant	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747556C>T	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.417C>T	19.37:g.7747556C>T						TRAPPC5_ENST00000426877.2_Silent_p.C139C|TRAPPC5_ENST00000595985.1_Silent_p.C72C|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Silent_p.C139C	p.C139C	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN			2	604	+			139					A8K7I6	Silent	SNP	ENST00000317378.5	37	c.417C>T	CCDS42490.1																																																																																				0.627	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		8	9	0	0	0	1	0	8	9				
RBM10	8241	broad.mit.edu	37	X	47045959	47045959	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47045959G>A	ENST00000377604.3	+	24	3496	c.2754G>A	c.(2752-2754)ctG>ctA	p.L918L	RBM10_ENST00000345781.6_Silent_p.L841L|RBM10_ENST00000329236.7_Silent_p.L840L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	918					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGAGACACTGCACAAGACAA	0.617																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(2752-2754)ctG>ctA		RNA binding motif protein 10							73.0	52.0	59.0					X																	47045959		2203	4300	6503	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47045959G>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2754G>A	X.37:g.47045959G>A						RBM10_ENST00000345781.6_Silent_p.L841L|RBM10_ENST00000329236.7_Silent_p.L840L|RBM10_ENST00000468791.1_3'UTR	p.L918L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			24	3496	+			918					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.2754G>A	CCDS14274.1																																																																																				0.617	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		8	8	0	0	0	1	0	8	8				
PRPF40B	25766	broad.mit.edu	37	12	50027255	50027255	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027255G>T	ENST00000380281.1	+	7	503	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	PRPF40B_ENST00000261897.1_Missense_Mutation_p.G141C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	147	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCGGACACAGGCAAACCTTA	0.547																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(421-423)Ggc>Tgc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							145.0	159.0	154.0					12																	50027255		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027255G>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.439G>T	12.37:g.50027255G>T	ENSP00000369634:p.Gly147Cys					PRPF40B_ENST00000380281.1_Missense_Mutation_p.G147C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169C	p.G141C			Q6NWY9	PR40B_HUMAN			7	972	+			147			WW 2.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.421G>T		.	.	.	.	.	.	.	.	.	.	G	20.5	3.992754	0.74703	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	D;D;D	0.94931	-3.56;-3.56;-3.56	4.54	4.54	0.55810	WW/Rsp5/WWP (6);	0.000000	0.64402	D	0.000004	D	0.98251	0.9421	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98974	1.0802	9	.	.	.	-18.6196	17.259	0.87064	0.0:0.0:1.0:0.0	.	147;141;147	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	C	169;141;147	ENSP00000448073:G169C;ENSP00000261897:G141C;ENSP00000369634:G147C	.	G	+	1	0	PRPF40B	48313522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.288000	0.96055	2.814000	0.96858	0.655000	0.94253	GGC		0.547	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		20	249	1	0	8.28177e-16	1	1.06505e-15	20	249				
CEP97	79598	broad.mit.edu	37	3	101445527	101445527	+	Missense_Mutation	SNP	A	A	G	rs145823858		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101445527A>G	ENST00000341893.3	+	2	885	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	CEP97_ENST00000327230.4_Missense_Mutation_p.K45E|CEP97_ENST00000494050.1_Missense_Mutation_p.K45E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	45					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATTCTGGATAAAAATCAGAT	0.343																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(133-135)Aaa>Gaa		centrosomal protein 97kDa		A	GLU/LYS	0,4406		0,0,2203	63.0	66.0	65.0		133	4.8	1.0	3	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP97	NM_024548.2	56	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	45/866	101445527	1,13005	2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101445527A>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.133A>G	3.37:g.101445527A>G	ENSP00000342510:p.Lys45Glu					CEP97_ENST00000494050.1_Missense_Mutation_p.K45E|CEP97_ENST00000327230.4_Missense_Mutation_p.K45E	p.K45E			Q8IW35	CEP97_HUMAN			2	885	+			45					B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.133A>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635807	0.47049	0.0	1.16E-4	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.23950	1.88;1.88;2.23	4.82	4.82	0.62117	.	0.167314	0.52532	D	0.000069	T	0.26268	0.0641	N	0.21142	0.635	0.38299	D	0.942931	D;B;B	0.63046	0.992;0.216;0.264	P;B;B	0.53360	0.724;0.171;0.119	T	0.06716	-1.0811	10	0.16896	T	0.51	-22.5888	14.7073	0.69200	1.0:0.0:0.0:0.0	.	45;45;45	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	E	45	ENSP00000342510:K45E;ENSP00000325881:K45E;ENSP00000418185:K45E	ENSP00000325881:K45E	K	+	1	0	CEP97	102928217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.758000	0.62220	1.928000	0.55862	0.533000	0.62120	AAA		0.343	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		4	54	0	0	0	1	0	4	54				
ANKRD54	129138	broad.mit.edu	37	22	38228688	38228688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38228688C>T	ENST00000215941.4	-	7	976	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.D246N|ANKRD54_ENST00000406423.1_Missense_Mutation_p.D142N|ANKRD54_ENST00000609454.1_Missense_Mutation_p.D69N	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	262					nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					CAGAGGTCATCCAGGCGTTCT	0.612																																						ENST00000215941.4																			0				lung(1)	1						c.(784-786)Gat>Aat		ankyrin repeat domain 54							103.0	88.0	93.0					22																	38228688		2203	4300	6503	SO:0001583	missense	129138							g.chr22:38228688C>T	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.784G>A	22.37:g.38228688C>T	ENSP00000215941:p.Asp262Asn					ANKRD54_ENST00000411961.2_Missense_Mutation_p.D246N|ANKRD54_ENST00000406423.1_Missense_Mutation_p.D142N|ANKRD54_ENST00000498417.1_5'UTR	p.D262N	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN			7	976	-	Melanoma(58;0.045)		262					Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	ENST00000215941.4	37	c.784G>A	CCDS13959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.966014|1.966014	0.34659|0.34659	.|.	.|.	ENSG00000100124|ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961|ENST00000458278	T;T;T|.	0.69306|.	-0.28;-0.17;-0.39|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.050713|.	0.85682|.	D|.	0.000000|.	T|.	0.59321|.	0.2185|.	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	B;P|.	0.47762|.	0.02;0.9|.	B;B|.	0.39706|.	0.017;0.307|.	T|.	0.52749|.	-0.8534|.	10|.	0.08837|.	T|.	0.75|.	-2.6561|-2.6561	19.5996|19.5996	0.95554|0.95554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;262|.	B5MCX7;Q6NXT1|.	.;ANR54_HUMAN|.	N|X	262;142;246|177	ENSP00000215941:D262N;ENSP00000384392:D142N;ENSP00000405782:D246N|.	ENSP00000215941:D262N|.	D|W	-|-	1|3	0|0	ANKRD54|ANKRD54	36558634|36558634	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.119000|0.119000	0.20118|0.20118	6.761000|6.761000	0.74945|0.74945	2.635000|2.635000	0.89317|0.89317	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.612	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797		8	41	0	0	0	1	0	8	41				
ACKR3	57007	broad.mit.edu	37	2	237489982	237489982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237489982G>A	ENST00000272928.3	+	2	1184	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	292					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GCTGGAGCACGCCCTCTTCAC	0.592																																						ENST00000272928.3																			0											c.(874-876)Gcc>Acc		atypical chemokine receptor 3							136.0	113.0	121.0					2																	237489982		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489982G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.874G>A	2.37:g.237489982G>A	ENSP00000272928:p.Ala292Thr						p.A292T	NM_020311.2	NP_064707.1					2	1184	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.874G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475470	0.43942	.	.	ENSG00000144476	ENST00000272928	T	0.71461	-0.57	5.41	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.323007	0.32328	N	0.006246	T	0.51329	0.1668	N	0.25647	0.755	0.26405	N	0.976354	B	0.26120	0.142	B	0.22386	0.039	T	0.31752	-0.9932	9	.	.	.	.	7.9222	0.29852	0.1027:0.0:0.425:0.4723	.	292	P25106	CXCR7_HUMAN	T	292	ENSP00000272928:A292T	.	A	+	1	0	CXCR7	237154721	1.000000	0.71417	0.969000	0.41365	0.883000	0.51084	1.776000	0.38594	0.171000	0.19730	0.655000	0.94253	GCC		0.592	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		35	63	0	0	0	1	0	35	63				
ACHE	43	broad.mit.edu	37	7	100491199	100491199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491199C>T	ENST00000412389.1	-	1	810	c.655G>A	c.(655-657)Gca>Aca	p.A219T	ACHE_ENST00000411582.1_Missense_Mutation_p.A219T|ACHE_ENST00000241069.5_Missense_Mutation_p.A219T|ACHE_ENST00000428317.1_Missense_Mutation_p.A219T|ACHE_ENST00000419336.2_Missense_Mutation_p.A219T|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000302913.4_Missense_Mutation_p.A219T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	219					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCGAAGGCTGCCACGTTCTCC	0.701																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(655-657)Gca>Aca		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						42.0	44.0	43.0					7																	100491199		2198	4297	6495	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491199C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.655G>A	7.37:g.100491199C>T	ENSP00000394976:p.Ala219Thr					ACHE_ENST00000241069.5_Missense_Mutation_p.A219T|ACHE_ENST00000419336.2_Missense_Mutation_p.A219T|ACHE_ENST00000412389.1_Missense_Mutation_p.A219T|ACHE_ENST00000411582.1_Missense_Mutation_p.A219T|ACHE_ENST00000428317.1_Missense_Mutation_p.A219T	p.A219T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	793	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		219					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.655G>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189530	0.38707	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.13	4.24	0.50183	Carboxylesterase, type B (1);	0.307368	0.34386	N	0.004005	T	0.43545	0.1252	M	0.88181	2.935	0.09310	N	1	D;D;D;D	0.58268	0.977;0.982;0.976;0.977	P;B;B;P	0.48738	0.588;0.422;0.43;0.588	T	0.48822	-0.9001	10	0.46703	T	0.11	.	13.2891	0.60260	0.0:0.839:0.1609:0.0	.	219;219;219;219	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	T	219	ENSP00000403474:A219T;ENSP00000241069:A219T;ENSP00000414858:A219T;ENSP00000303211:A219T;ENSP00000394976:A219T;ENSP00000397143:A219T;ENSP00000399725:A219T;ENSP00000404865:A219T	ENSP00000241069:A219T	A	-	1	0	ACHE	100329135	0.000000	0.05858	0.938000	0.37757	0.538000	0.34931	0.708000	0.25719	1.119000	0.41883	-0.479000	0.04858	GCA		0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		18	81	0	0	0	1	0	18	81				
NFXL1	152518	broad.mit.edu	37	4	47887941	47887941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47887941C>T	ENST00000507489.1	-	13	1795	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D	NFXL1_ENST00000381538.3_Missense_Mutation_p.G540D|NFXL1_ENST00000329043.3_Missense_Mutation_p.G540D	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	540						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACGTTCTCGGCCACAGGGCAC	0.438																																						ENST00000507489.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(1618-1620)gGc>gAc		nuclear transcription factor, X-box binding-like 1							241.0	223.0	229.0					4																	47887941		2203	4300	6503	SO:0001583	missense	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47887941C>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1619G>A	4.37:g.47887941C>T	ENSP00000422037:p.Gly540Asp					NFXL1_ENST00000381538.3_Missense_Mutation_p.G540D|NFXL1_ENST00000329043.3_Missense_Mutation_p.G540D	p.G540D	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			13	1795	-			540					B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	c.1619G>A	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	30	5.055780	0.93793	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.58797	0.31;0.31;0.31	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85575	0.1236	10	0.72032	D	0.01	-9.8416	19.7806	0.96414	0.0:1.0:0.0:0.0	.	540	Q6ZNB6	NFXL1_HUMAN	D	540	ENSP00000370949:G540D;ENSP00000422037:G540D;ENSP00000333113:G540D	ENSP00000333113:G540D	G	-	2	0	NFXL1	47582698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.886000	0.75611	2.669000	0.90835	0.650000	0.86243	GGC		0.438	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		67	102	0	0	0	1	0	67	102				
IRF3	3661	broad.mit.edu	37	19	50166499	50166499	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50166499G>A	ENST00000597198.1	-	4	735	c.354C>T	c.(352-354)tcC>tcT	p.S118S	IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000599223.1_Silent_p.S118S|IRF3_ENST00000309877.7_Silent_p.S118S|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000600022.1_5'UTR|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377135.4_Silent_p.S118S|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000377139.3_Silent_p.S118S|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000601291.1_Silent_p.S118S|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000600911.1_Silent_p.S118S|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000442265.2_Missense_Mutation_p.P61L			Q14653	IRF3_HUMAN	interferon regulatory factor 3	118					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTCTGGCTGGGAAAAGTCCC	0.582																																						ENST00000442265.2																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(181-183)cCc>cTc		interferon regulatory factor 3							163.0	150.0	155.0					19																	50166499		2203	4300	6503	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50166499G>A		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.354C>T	19.37:g.50166499G>A						IRF3_ENST00000601291.1_Silent_p.S118S|IRF3_ENST00000599223.1_Silent_p.S118S|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000597198.1_Silent_p.S118S|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000377135.4_Silent_p.S118S|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000309877.7_Silent_p.S118S|IRF3_ENST00000600911.1_Silent_p.S118S|IRF3_ENST00000377139.3_Silent_p.S118S|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR	p.P61L			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	2	181	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	187					A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.182C>T	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	g	13.70	2.315058	0.40996	.	.	ENSG00000126456	ENST00000442265	D	0.98105	-4.72	3.66	-1.96	0.07525	.	.	.	.	.	D	0.92925	0.7749	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	D	0.84607	0.0676	8	0.44086	T	0.13	0.0013	2.9066	0.05722	0.3431:0.0:0.1959:0.461	.	61	Q5FBY4	.	L	61	ENSP00000400378:P61L	ENSP00000400378:P61L	P	-	2	0	IRF3	54858311	0.001000	0.12720	0.000000	0.03702	0.070000	0.16714	-0.029000	0.12329	-0.370000	0.08016	0.651000	0.88453	CCC		0.582	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		6	99	0	0	0	1	0	6	99				
WDR90	197335	broad.mit.edu	37	16	716482	716482	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:716482G>T	ENST00000293879.4	+	38	4768	c.4768G>T	c.(4768-4770)Gac>Tac	p.D1590Y	WDR90_ENST00000549091.1_Missense_Mutation_p.D1592Y|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.D189Y|WDR90_ENST00000315764.4_Intron|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1590										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGAGGGCACAGACCTATGGCT	0.632																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(4774-4776)Gac>Tac		WD repeat domain 90							34.0	43.0	40.0					16																	716482		2037	4173	6210	SO:0001583	missense	197335							g.chr16:716482G>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4768G>T	16.37:g.716482G>T	ENSP00000293879:p.Asp1590Tyr					WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.D189Y|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000293879.4_Missense_Mutation_p.D1590Y	p.D1592Y	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			38	4866	+		Hepatocellular(780;0.0218)	1590					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4774G>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010188	0.75046	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944	T;T;T	0.28454	1.63;1.61;3.63	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.756191	0.12633	N	0.451997	T	0.47135	0.1429	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.68943	0.961;0.642	T	0.37957	-0.9683	10	0.02654	T	1	.	16.1987	0.82053	0.0:0.0:1.0:0.0	.	189;1590	G3V201;Q96KV7	.;WDR90_HUMAN	Y	1592;1590;189	ENSP00000448122:D1592Y;ENSP00000293879:D1590Y;ENSP00000449576:D189Y	ENSP00000293879:D1590Y	D	+	1	0	WDR90	656483	1.000000	0.71417	0.807000	0.32361	0.761000	0.43186	7.646000	0.83445	2.045000	0.60652	0.561000	0.74099	GAC		0.632	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		19	28	1	0	1.40151e-16	1	1.80976e-16	19	28				
QARS	5859	broad.mit.edu	37	3	49141388	49141388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49141388G>A	ENST00000306125.6	-	3	620	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	QARS_ENST00000420147.2_Missense_Mutation_p.R113W|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.R84W			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	95					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGGTGACTCCGCACATACTCA	0.547																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(283-285)Cgg>Tgg		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						52.0	48.0	49.0					3																	49141388		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49141388G>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.283C>T	3.37:g.49141388G>A	ENSP00000307567:p.Arg95Trp					QARS_ENST00000414533.1_Missense_Mutation_p.R84W|QARS_ENST00000420147.2_Missense_Mutation_p.R113W	p.R95W			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	620	-			95					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.283C>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243996	0.79912	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.23552	1.9;1.9	5.79	3.96	0.45880	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.068615	0.64402	D	0.000011	T	0.43875	0.1267	L	0.47716	1.5	0.36865	D	0.88859	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.912;0.958	T	0.52139	-0.8615	10	0.66056	D	0.02	-16.9172	15.1789	0.72938	0.0:0.0:0.4604:0.5396	.	113;84;95	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	W	95;84;113;137;95	ENSP00000307567:R95W;ENSP00000390015:R84W	ENSP00000307567:R95W	R	-	1	2	QARS	49116392	0.242000	0.23868	1.000000	0.80357	0.995000	0.86356	1.673000	0.37534	0.737000	0.32582	-0.182000	0.12963	CGG		0.547	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		10	16	0	0	0	1	0	10	16				
PSMB11	122706	broad.mit.edu	37	14	23511750	23511750	+	Missense_Mutation	SNP	C	C	T	rs368096618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511750C>T	ENST00000408907.2	+	1	375	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	106					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TACCTGGTATCGGGTATTACA	0.597													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20450	0.0		0.0	False		,,,				2504	0.001					ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(316-318)Cgg>Tgg		proteasome (prosome, macropain) subunit, beta type, 11		C	TRP/ARG	1,4213		0,1,2106	64.0	69.0	68.0		316	3.2	1.0	14		68	0,8458		0,0,4229	no	missense	PSMB11	NM_001099780.1	101	0,1,6335	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging	106/301	23511750	1,12671	2107	4229	6336	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511750C>T		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.316C>T	14.37:g.23511750C>T	ENSP00000386212:p.Arg106Trp						p.R106W	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	375	+	all_cancers(95;3.3e-05)		106						Missense_Mutation	SNP	ENST00000408907.2	37	c.316C>T	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946342	0.53079	2.37E-4	0.0	ENSG00000222028	ENST00000408907	T	0.37584	1.19	5.09	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.91459	3.21	0.47621	D	0.999476	D	0.89917	1.0	D	0.97110	1.0	T	0.66224	-0.5977	10	0.87932	D	0	-2.1906	8.8922	0.35441	0.3015:0.5526:0.146:0.0	.	106	A5LHX3	PSB11_HUMAN	W	106	ENSP00000386212:R106W	ENSP00000386212:R106W	R	+	1	2	PSMB11	22581590	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	3.049000	0.49869	0.494000	0.27859	0.563000	0.77884	CGG		0.597	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		30	46	0	0	0	1	0	30	46				
FAT2	2196	broad.mit.edu	37	5	150947407	150947407	+	Silent	SNP	G	G	A	rs200331562		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947407G>A	ENST00000261800.5	-	1	1098	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1084-1086)ttC>ttT		FAT atypical cadherin 2							75.0	81.0	79.0					5																	150947407		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947407G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1086C>T	5.37:g.150947407G>A							p.F362F	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1098	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	362					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1086C>T	CCDS4317.1																																																																																				0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		48	40	0	0	0	1	0	48	40				
SUPT6H	6830	broad.mit.edu	37	17	27002475	27002475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27002475C>T	ENST00000314616.6	+	6	878	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Missense_Mutation_p.R199W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	199	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCTAAGTGGCGGAAAAAGCT	0.517																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(595-597)Cgg>Tgg		suppressor of Ty 6 homolog (S. cerevisiae)							106.0	97.0	100.0					17																	27002475		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27002475C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.595C>T	17.37:g.27002475C>T	ENSP00000319104:p.Arg199Trp					SUPT6H_ENST00000347486.4_Missense_Mutation_p.R199W	p.R199W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			6	878	+	Lung NSC(42;0.00431)		199			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.595C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495658	0.64186	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	6.06	1.17	0.20885	.	0.058713	0.64402	D	0.000002	T	0.55893	0.1949	L	0.43923	1.385	0.43351	D	0.995416	D	0.69078	0.997	P	0.47376	0.545	T	0.65578	-0.6134	9	0.87932	D	0	-17.0798	17.2611	0.87070	0.5348:0.4652:0.0:0.0	.	199	Q7KZ85	SPT6H_HUMAN	W	199	.	ENSP00000319104:R199W	R	+	1	2	SUPT6H	24026602	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.440000	0.21592	0.386000	0.24997	0.655000	0.94253	CGG		0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		21	49	0	0	0	1	0	21	49				
QRICH2	84074	broad.mit.edu	37	17	74288647	74288647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74288647C>T	ENST00000262765.5	-	4	1842	c.1663G>A	c.(1663-1665)Gct>Act	p.A555T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	555	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGTTGAGCCAAATCACTC	0.532																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1663-1665)Gct>Act		glutamine rich 2							209.0	165.0	180.0					17																	74288647		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288647C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1663G>A	17.37:g.74288647C>T	ENSP00000262765:p.Ala555Thr						p.A555T	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1842	-			555			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1663G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	c	10.71	1.427841	0.25726	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09255	3.0	5.25	3.24	0.37175	.	.	.	.	.	T	0.08758	0.0217	L	0.34521	1.04	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.10450	0.005;0.003	T	0.31998	-0.9923	9	0.22109	T	0.4	-0.5	10.0494	0.42205	0.0:0.8294:0.0:0.1706	.	555;555	B5MD94;Q9H0J4	.;QRIC2_HUMAN	T	555	ENSP00000262765:A555T	ENSP00000262765:A555T	A	-	1	0	QRICH2	71800242	0.000000	0.05858	0.013000	0.15412	0.002000	0.02628	1.259000	0.32956	1.202000	0.43218	0.555000	0.69702	GCT		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		16	33	0	0	0	1	0	16	33				
INHBB	3625	broad.mit.edu	37	2	121106699	121106699	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121106699G>A	ENST00000295228.3	+	2	519	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCCGGGTCCGCCTATACTTC	0.557																																						ENST00000295228.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(472-474)cGc>cAc		inhibin, beta B							57.0	61.0	60.0					2																	121106699		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106699G>A		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.473G>A	2.37:g.121106699G>A	ENSP00000295228:p.Arg158His						p.R158H	NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN			2	519	+		Prostate(154;0.122)	158					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.473G>A	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780434	0.70222	.	.	ENSG00000163083	ENST00000295228	T	0.67171	-0.25	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.216528	0.39210	N	0.001426	T	0.70649	0.3248	L	0.54323	1.7	0.40053	D	0.975802	D	0.54964	0.969	P	0.53760	0.734	T	0.70970	-0.4727	10	0.44086	T	0.13	-3.9508	12.8183	0.57677	0.0:0.0:0.8364:0.1636	.	158	P09529	INHBB_HUMAN	H	158	ENSP00000295228:R158H	ENSP00000295228:R158H	R	+	2	0	INHBB	120823169	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.058000	0.64300	2.804000	0.96469	0.655000	0.94253	CGC		0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			21	39	0	0	0	1	0	21	39				
ZNF354A	6940	broad.mit.edu	37	5	178140504	178140504	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178140504A>C	ENST00000335815.2	-	5	572	c.375T>G	c.(373-375)ccT>ccG	p.P125P		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	125					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CATATATGTAAGGCTTTTCTA	0.378																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(373-375)ccT>ccG		zinc finger protein 354A							80.0	84.0	83.0					5																	178140504		2203	4300	6503	SO:0001819	synonymous_variant	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178140504A>C	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.375T>G	5.37:g.178140504A>C							p.P125P	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	572	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	125					Q9UNJ8	Silent	SNP	ENST00000335815.2	37	c.375T>G	CCDS4438.1																																																																																				0.378	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		6	104	0	0	0	1	0	6	104				
GATAD2B	57459	broad.mit.edu	37	1	153800488	153800488	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153800488C>T	ENST00000368655.4	-	2	579		c.e2+1			NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B						ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGCCATACCTCCGTCTAG	0.478																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.e2+1		GATA zinc finger domain containing 2B							125.0	110.0	115.0					1																	153800488		2203	4300	6503	SO:0001630	splice_region_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153800488C>T	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.335+1G>A	1.37:g.153800488C>T								NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	579	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Splice_Site	SNP	ENST00000368655.4	37		CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478235	0.84747	.	.	ENSG00000143614	ENST00000368655	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1653	0.93555	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GATAD2B	152067112	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.629000	0.54266	2.831000	0.97527	0.585000	0.79938	.		0.478	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699	Intron	38	47	0	0	0	1	0	38	47				
GPR179	440435	broad.mit.edu	37	17	36490664	36490664	+	Silent	SNP	C	C	T	rs376899590		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36490664C>T	ENST00000342292.4	-	8	1727	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	569					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGAAGGCCGAGAGCACAG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18984	0.001		0.0	False		,,,				2504	0.0					ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1705-1707)tcG>tcA		G protein-coupled receptor 179							53.0	59.0	57.0					17																	36490664		2175	4270	6445	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36490664C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1707G>A	17.37:g.36490664C>T							p.S569S	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			8	1727	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	569						Silent	SNP	ENST00000342292.4	37	c.1707G>A	CCDS42308.1																																																																																				0.642	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			7	9	0	0	0	1	0	7	9				
ATRX	546	broad.mit.edu	37	X	76907780	76907780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76907780C>T	ENST00000373344.5	-	15	4595	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	ATRX_ENST00000395603.3_Missense_Mutation_p.E1423K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1461	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						tcctcctcctcttcctcctcc	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4381-4383)Gag>Aag		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						164.0	151.0	156.0					X																	76907780		2203	4300	6503	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907780C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4381G>A	X.37:g.76907780C>T	ENSP00000362441:p.Glu1461Lys					ATRX_ENST00000395603.3_Missense_Mutation_p.E1423K|ATRX_ENST00000480283.1_5'UTR	p.E1461K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4595	-			1461			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4381G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	7.196	0.592492	0.13875	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94537	-3.45;-3.45	2.77	2.77	0.32553	.	1.783130	0.03684	N	0.246029	D	0.90202	0.6937	N	0.22421	0.69	0.58432	D	0.999996	B;B	0.15473	0.013;0.0	B;B	0.19391	0.025;0.001	T	0.72626	-0.4236	10	0.20519	T	0.43	0.0964	10.7055	0.45952	0.0:1.0:0.0:0.0	.	1423;1461	P46100-4;P46100	.;ATRX_HUMAN	K	1461;1423	ENSP00000362441:E1461K;ENSP00000378967:E1423K	ENSP00000362441:E1461K	E	-	1	0	ATRX	76794436	1.000000	0.71417	0.015000	0.15790	0.014000	0.08584	1.539000	0.36104	1.639000	0.50556	0.594000	0.82650	GAG		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		36	76	0	0	0	1	0	36	76				
KRT33B	3884	broad.mit.edu	37	17	39521689	39521689	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521689C>A	ENST00000251646.3	-	4	754	c.705G>T	c.(703-705)ctG>ctT	p.L235L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	235	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGTTTCCACCAGGGCCTCAT	0.647																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(703-705)ctG>ctT		keratin 33B							70.0	68.0	69.0					17																	39521689		2189	4300	6489	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521689C>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.705G>T	17.37:g.39521689C>A							p.L235L	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			4	754	-		Breast(137;0.000496)	235			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.705G>T	CCDS11389.1																																																																																				0.647	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		13	17	1	0	3.32936e-07	1	3.90007e-07	13	17				
RGMA	56963	broad.mit.edu	37	15	93588245	93588245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93588245G>T	ENST00000329082.7	-	4	1607	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.L430I|RGMA_ENST00000557301.1_Missense_Mutation_p.L454I|RGMA_ENST00000538818.1_Missense_Mutation_p.L337I|RGMA_ENST00000556658.1_Missense_Mutation_p.L337I|RGMA_ENST00000543599.1_Missense_Mutation_p.L430I|RGMA_ENST00000542321.2_Missense_Mutation_p.L430I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	446					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AACACAGGGAGCAGGGCCAGG	0.721																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(1336-1338)Ctc>Atc		repulsive guidance molecule family member a							12.0	13.0	13.0					15																	93588245		1942	4095	6037	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93588245G>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1336C>A	15.37:g.93588245G>T	ENSP00000330005:p.Leu446Ile					RGMA_ENST00000556658.1_Missense_Mutation_p.L337I|RGMA_ENST00000543599.1_Missense_Mutation_p.L430I|RGMA_ENST00000542321.2_Missense_Mutation_p.L430I|RGMA_ENST00000538818.1_Missense_Mutation_p.L337I|RGMA_ENST00000557301.1_Missense_Mutation_p.L454I|RGMA_ENST00000425933.2_Missense_Mutation_p.L430I|RGMA_ENST00000557420.1_3'UTR	p.L446I	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		4	1607	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		446					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.1336C>A	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264252	0.39995	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.91577	-2.86;-2.86;-2.86;-2.86;-2.49;-2.87	4.57	2.36	0.29203	.	1.420410	0.04212	N	0.331834	T	0.80518	0.4638	N	0.03608	-0.345	0.24821	N	0.992588	B;B	0.25272	0.122;0.057	B;B	0.25405	0.036;0.06	T	0.68884	-0.5291	10	0.26408	T	0.33	-7.4569	10.4904	0.44748	0.0:0.4834:0.5166:0.0	.	454;446	G3V518;Q96B86	.;RGMA_HUMAN	I	430;430;446;430;337;454	ENSP00000442498:L430I;ENSP00000404442:L430I;ENSP00000330005:L446I;ENSP00000440025:L430I;ENSP00000442546:L337I;ENSP00000452126:L454I	ENSP00000330005:L446I	L	-	1	0	RGMA	91389249	0.993000	0.37304	0.285000	0.24819	0.320000	0.28249	2.249000	0.43169	0.995000	0.38917	0.491000	0.48974	CTC		0.721	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		3	2	1	0	0.115264	1	0.117355	3	2				
ZSCAN12	9753	broad.mit.edu	37	6	28358597	28358597	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28358597A>G	ENST00000361028.1	-	4	1615	c.1470T>C	c.(1468-1470)atT>atC	p.I490I	ZSCAN12_ENST00000396827.3_Silent_p.I490I			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	490					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGTGTGAATTCGCTGAT	0.428																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(1468-1470)atT>atC		zinc finger and SCAN domain containing 12							111.0	100.0	103.0					6																	28358597		692	1591	2283	SO:0001819	synonymous_variant	9753							g.chr6:28358597A>G	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1470T>C	6.37:g.28358597A>G						ZSCAN12_ENST00000396827.3_Silent_p.I490I	p.I490I							4	1615	-								O43724	Silent	SNP	ENST00000361028.1	37	c.1470T>C																																																																																					0.428	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		3	4	0	0	0	1	0	3	4				
IWS1	55677	broad.mit.edu	37	2	128260962	128260962	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128260962C>A	ENST00000295321.4	-	4	1669		c.e4+1		AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Splice_Site	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)						mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTCACTTACTCTTCTTCAT	0.403																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.e4+1		IWS1 homolog (S. cerevisiae)							180.0	174.0	176.0					2																	128260962		2203	4300	6503	SO:0001630	splice_region_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128260962C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1409+1G>T	2.37:g.128260962C>A						AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Splice_Site		NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	4	1669	-	Colorectal(110;0.1)							Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Splice_Site	SNP	ENST00000295321.4	37		CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139127	0.77775	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.638	0.95744	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IWS1	127977432	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.105000	0.77031	2.652000	0.90054	0.462000	0.41574	.		0.403	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969	Intron	15	175	1	0	3.45872e-05	1	3.88335e-05	15	175				
GAA	2548	broad.mit.edu	37	17	78092019	78092019	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092019C>T	ENST00000302262.3	+	18	2728	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	GAA_ENST00000390015.3_Missense_Mutation_p.R837C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	837					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CACAGAGTCCCGCCAGCAGCC	0.667																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2509-2511)Cgc>Tgc		glucosidase, alpha; acid	Acarbose(DB00284)						46.0	50.0	49.0					17																	78092019		2203	4299	6502	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78092019C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2509C>T	17.37:g.78092019C>T	ENSP00000305692:p.Arg837Cys					GAA_ENST00000390015.3_Missense_Mutation_p.R837C	p.R837C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		18	2728	+	all_neural(118;0.117)		837					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.2509C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348321	0.82132	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.92099	-2.97;-2.97	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98789	1.0735	10	0.87932	D	0	-36.1534	18.9835	0.92763	0.0:1.0:0.0:0.0	.	837	P10253	LYAG_HUMAN	C	837	ENSP00000305692:R837C;ENSP00000374665:R837C	ENSP00000305692:R837C	R	+	1	0	GAA	75706614	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	3.505000	0.53356	2.569000	0.86673	0.655000	0.94253	CGC		0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			18	42	0	0	0	1	0	18	42				
OR2G6	391211	broad.mit.edu	37	1	248685842	248685842	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685842G>T	ENST00000343414.4	+	1	927	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTGAAAGGGGCCTTGAG	0.448																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(895-897)Ggg>Tgg		olfactory receptor, family 2, subfamily G, member 6							52.0	52.0	52.0					1																	248685842		2202	4300	6502	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685842G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.895G>T	1.37:g.248685842G>T	ENSP00000341291:p.Gly299Trp						p.G299W	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	927	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	299					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.895G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.92	1.487844	0.26686	.	.	ENSG00000188558	ENST00000343414	T	0.38077	1.16	3.73	1.75	0.24633	.	0.180162	0.26792	U	0.022478	T	0.46983	0.1421	L	0.60067	1.865	0.09310	N	0.999995	D	0.76494	0.999	D	0.66497	0.944	T	0.27226	-1.0080	10	0.62326	D	0.03	.	5.571	0.17196	0.1015:0.0:0.5552:0.3433	.	299	Q5TZ20	OR2G6_HUMAN	W	299	ENSP00000341291:G299W	ENSP00000341291:G299W	G	+	1	0	OR2G6	246752465	0.000000	0.05858	0.045000	0.18777	0.713000	0.41058	0.002000	0.13061	0.227000	0.20999	0.400000	0.26472	GGG		0.448	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	47	1	0	0.000602214	1	0.000649039	4	47				
ZNF331	55422	broad.mit.edu	37	19	54080795	54080795	+	Silent	SNP	C	C	T	rs149071213	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54080795C>T	ENST00000253144.9	+	7	2314	c.981C>T	c.(979-981)caC>caT	p.H327H	ZNF331_ENST00000411977.2_Silent_p.H327H|ZNF331_ENST00000512387.1_Silent_p.H327H|ZNF331_ENST00000511154.1_Silent_p.H327H|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511593.2_Silent_p.H327H|ZNF331_ENST00000449416.1_Silent_p.H327H|ZNF331_ENST00000513999.1_Silent_p.H327H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H327H(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAGCCTCACGAATGTAAGG	0.507			T	?	follicular thyroid adenoma								C|||	3	0.000599042	0.0023	0.0	5008	,	,		20436	0.0		0.0	False		,,,				2504	0.0					ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		1	Substitution - coding silent(1)	p.H327H(1)	large_intestine(1)	NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(979-981)caC>caT		zinc finger protein 331		C	,,	17,4389	26.2+/-53.5	0,17,2186	94.0	83.0	87.0		981,981,981	-4.0	0.7	19	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF331	NM_001079906.1,NM_001079907.1,NM_018555.5	,,	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	,,	327/464,327/464,327/464	54080795	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080795C>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.981C>T	19.37:g.54080795C>T						ZNF331_ENST00000449416.1_Silent_p.H327H|ZNF331_ENST00000512387.1_Silent_p.H327H|ZNF331_ENST00000511593.2_Silent_p.H327H|ZNF331_ENST00000511154.1_Silent_p.H327H|ZNF331_ENST00000513999.1_Silent_p.H327H|ZNF331_ENST00000411977.2_Silent_p.H327H|ZNF331_ENST00000513265.1_3'UTR	p.H327H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2314	+			327					Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.981C>T	CCDS33102.1																																																																																				0.507	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		5	56	0	0	0	1	0	5	56				
TMEM194A	23306	broad.mit.edu	37	12	57457058	57457058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57457058C>T	ENST00000300128.4	-	7	847	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	TMEM194A_ENST00000379391.3_Missense_Mutation_p.R202Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	275						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTTGATACTTCGTTCATTCTC	0.428																																						ENST00000300128.4																			0				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(823-825)cGa>cAa		transmembrane protein 194A							198.0	157.0	171.0					12																	57457058		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57457058C>T	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.824G>A	12.37:g.57457058C>T	ENSP00000300128:p.Arg275Gln					TMEM194A_ENST00000379391.3_Missense_Mutation_p.R202Q	p.R275Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN			7	847	-			275					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.824G>A	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822916	0.90873	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.49720	0.77;0.77	5.08	5.08	0.68730	Domain of unknown function DUF2215 (1);	0.222050	0.38663	N	0.001613	T	0.64505	0.2604	L	0.59436	1.845	0.54753	D	0.999981	D;D	0.89917	1.0;0.998	D;P	0.74023	0.982;0.806	T	0.63782	-0.6559	10	0.48119	T	0.1	-7.3286	15.9994	0.80280	0.0:1.0:0.0:0.0	.	275;202	O14524;O14524-2	T194A_HUMAN;.	Q	202;275	ENSP00000368701:R202Q;ENSP00000300128:R275Q	ENSP00000300128:R275Q	R	-	2	0	TMEM194A	55743325	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.633000	0.67825	2.632000	0.89209	0.650000	0.86243	CGA		0.428	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		34	51	0	0	0	1	0	34	51				
TMPRSS15	5651	broad.mit.edu	37	21	19653381	19653381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653381G>A	ENST00000284885.3	-	22	2677	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	882	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAAATTCCAGATGCATCATG	0.328																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2644-2646)Ctg>Ttg		transmembrane protease, serine 15							160.0	155.0	157.0					21																	19653381		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19653381G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2644C>T	21.37:g.19653381G>A							p.L882L	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			22	2677	-			882			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2644C>T	CCDS13571.1																																																																																				0.328	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		53	100	0	0	0	1	0	53	100				
TTN	7273	broad.mit.edu	37	2	179500774	179500774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500774C>T	ENST00000591111.1	-	176	36825	c.36601G>A	c.(36601-36603)Gca>Aca	p.A12201T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A11274T|TTN_ENST00000589042.1_Missense_Mutation_p.A13842T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4969T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A4777T|TTN_ENST00000359218.5_Missense_Mutation_p.A4902T|TTN-AS1_ENST00000418062.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12201	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCATCTGCATCGTTGATG	0.498																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41524-41526)Gca>Aca		titin							100.0	102.0	102.0					2																	179500774		2003	4176	6179	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500774C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36601G>A	2.37:g.179500774C>T	ENSP00000465570:p.Ala12201Thr					TTN_ENST00000460472.2_Missense_Mutation_p.A4777T|TTN_ENST00000342992.6_Missense_Mutation_p.A11274T|TTN_ENST00000359218.5_Missense_Mutation_p.A4902T|TTN_ENST00000342175.6_Missense_Mutation_p.A4969T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A12201T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.A13842T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	41748	-			12201					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41524G>A		.	.	.	.	.	.	.	.	.	.	C	7.517	0.655887	0.14580	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.8	3.9	0.45041	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05273	0.0140	N	0.17800	0.525	0.09310	N	0.999997	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.30327	-0.9982	9	0.87932	D	0	.	8.9881	0.36005	0.2489:0.6741:0.0:0.0771	.	4777;4902;4969;12201	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	11274;4777;4969;4902;4777	ENSP00000343764:A11274T;ENSP00000434586:A4777T;ENSP00000340554:A4969T;ENSP00000352154:A4902T	ENSP00000340554:A4969T	A	-	1	0	TTN	179209019	0.006000	0.16342	0.666000	0.29783	0.325000	0.28411	0.105000	0.15333	1.455000	0.47813	0.585000	0.79938	GCA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	80	0	0	0	1	0	8	80				
CPSF4	10898	broad.mit.edu	37	7	99042455	99042455	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99042455C>T	ENST00000292476.5	+	2	157	c.147C>T	c.(145-147)tgC>tgT	p.C49C	PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_5'UTR|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000451876.1_Silent_p.C49C|CPSF4_ENST00000436336.2_Silent_p.C49C|CPSF4_ENST00000471455.1_3'UTR			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	49					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGCTGCCTGCGGCAAAGGTA	0.547																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(145-147)tgC>tgT		cleavage and polyadenylation specific factor 4, 30kDa							133.0	147.0	142.0					7																	99042455		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99042455C>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.147C>T	7.37:g.99042455C>T						CPSF4_ENST00000441580.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Silent_p.C49C|CPSF4_ENST00000292476.5_Silent_p.C49C|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron	p.C49C	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			2	308	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		49					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.147C>T	CCDS5664.1																																																																																				0.547	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			61	239	0	0	0	1	0	61	239				
TLR3	7098	broad.mit.edu	37	4	187003547	187003547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187003547G>A	ENST00000296795.3	+	4	811	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TLR3_ENST00000504367.1_5'UTR|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	236					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S236T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGTCCCAGCCTTACAGAG	0.428																																						ENST00000296795.2																			1	Substitution - Missense(1)	p.S236T(1)	lung(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(706-708)aGc>aAc		toll-like receptor 3							118.0	120.0	119.0					4																	187003547		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187003547G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.707G>A	4.37:g.187003547G>A	ENSP00000296795:p.Ser236Asn					TLR3_ENST00000504367.1_5'UTR|TLR3_ENST00000508051.1_3'UTR	p.S236N	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	811	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	236					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.707G>A	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.414590	0.01145	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.80214	-1.35;-1.35	5.33	-1.52	0.08637	.	1.148380	0.05977	N	0.643448	T	0.58495	0.2126	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41413	-0.9510	10	0.15066	T	0.55	.	5.9577	0.19283	0.6545:0.0:0.191:0.1545	.	236	O15455	TLR3_HUMAN	N	236	ENSP00000296795:S236N;ENSP00000423386:S236N	ENSP00000296795:S236N	S	+	2	0	TLR3	187240541	0.001000	0.12720	0.009000	0.14445	0.021000	0.10359	1.096000	0.30976	-0.171000	0.10797	0.460000	0.39030	AGC		0.428	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			56	78	0	0	0	1	0	56	78				
COL7A1	1294	broad.mit.edu	37	3	48627942	48627942	+	Missense_Mutation	SNP	C	C	T	rs373720628		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48627942C>T	ENST00000328333.8	-	14	1963	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G619E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	619	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGACGGGTCCCCAGGCCAC	0.592																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1855-1857)gGa>gAa		collagen, type VII, alpha 1							84.0	82.0	82.0					3																	48627942		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48627942C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1856G>A	3.37:g.48627942C>T	ENSP00000332371:p.Gly619Glu					COL7A1_ENST00000454817.1_Missense_Mutation_p.G619E	p.G619E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	14	1963	-			619			Fibronectin type-III 5.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1856G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347149	0.24426	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.53640	0.61;0.61	5.01	2.23	0.28157	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.498983	0.16929	N	0.193744	T	0.28234	0.0697	N	0.16790	0.44	0.27846	N	0.940937	B	0.25390	0.125	B	0.23018	0.043	T	0.17745	-1.0359	10	0.59425	D	0.04	.	6.2956	0.21085	0.0:0.683:0.1512:0.1658	.	619	Q02388	CO7A1_HUMAN	E	619	ENSP00000332371:G619E;ENSP00000412569:G619E	ENSP00000332371:G619E	G	-	2	0	COL7A1	48602946	0.110000	0.22057	0.837000	0.33122	0.847000	0.48162	0.287000	0.18920	0.400000	0.25396	-0.182000	0.12963	GGA		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	24	0	0	0	1	0	14	24				
PCNXL2	80003	broad.mit.edu	37	1	233314861	233314861	+	Missense_Mutation	SNP	C	C	T	rs201315801	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233314861C>T	ENST00000258229.9	-	16	3361	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A176T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1043						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGAAAGGGCGACCAAGAGG	0.527													C|||	5	0.000998403	0.003	0.0014	5008	,	,		18588	0.0		0.0	False		,,,				2504	0.0					ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3127-3129)Gcc>Acc		pecanex-like 2 (Drosophila)		C	THR/ALA	6,4112		0,6,2053	111.0	119.0	116.0		3127	4.8	0.1	1		116	0,8474		0,0,4237	yes	missense	PCNXL2	NM_014801.3	58	0,6,6290	TT,TC,CC		0.0,0.1457,0.0476	probably-damaging	1043/2138	233314861	6,12586	2059	4237	6296	SO:0001583	missense	80003					integral to membrane		g.chr1:233314861C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3127G>A	1.37:g.233314861C>T	ENSP00000258229:p.Ala1043Thr					PCNXL2_ENST00000488780.2_Missense_Mutation_p.A176T	p.A1043T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			16	3361	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1043					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3127G>A	CCDS44335.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.7	4.445916	0.84101	0.001457	0.0	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.11169	2.8	5.68	4.75	0.60458	.	.	.	.	.	T	0.15435	0.0372	M	0.68593	2.085	0.80722	D	1	D	0.53885	0.963	B	0.41271	0.352	T	0.02477	-1.1153	9	0.87932	D	0	.	14.5453	0.68027	0.1619:0.8381:0.0:0.0	.	1043	A6NKB5	PCX2_HUMAN	T	1043;176	ENSP00000258229:A1043T	ENSP00000258229:A1043T	A	-	1	0	PCNXL2	231381484	1.000000	0.71417	0.054000	0.19295	0.896000	0.52359	4.581000	0.60949	1.326000	0.45319	0.455000	0.32223	GCC		0.527	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		14	39	0	0	0	1	0	14	39				
JAK2	3717	broad.mit.edu	37	9	5089777	5089777	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5089777T>C	ENST00000381652.3	+	20	3169	c.2675T>C	c.(2674-2676)cTa>cCa	p.L892P	JAK2_ENST00000544510.1_Missense_Mutation_p.L743P|JAK2_ENST00000539801.1_Missense_Mutation_p.L892P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	892	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAAGAGCACCTAAGAGACTTT	0.458		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(2674-2676)cTa>cCa		Janus kinase 2							121.0	107.0	112.0					9																	5089777		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5089777T>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2675T>C	9.37:g.5089777T>C	ENSP00000371067:p.Leu892Pro					JAK2_ENST00000539801.1_Missense_Mutation_p.L892P|JAK2_ENST00000544510.1_Missense_Mutation_p.L743P	p.L892P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	20	3169	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	892			Protein kinase 2.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.2675T>C	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046365	0.75846	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83250	-1.7;-1.7;-1.7	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.220621	0.41712	D	0.000824	D	0.87993	0.6318	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88455	0.3051	10	0.52906	T	0.07	-7.2224	15.2026	0.73153	0.0:0.0:0.0:1.0	.	892	O60674	JAK2_HUMAN	P	892;892;743	ENSP00000440387:L892P;ENSP00000371067:L892P;ENSP00000443103:L743P	ENSP00000371067:L892P	L	+	2	0	JAK2	5079777	1.000000	0.71417	0.876000	0.34364	0.962000	0.63368	7.622000	0.83099	1.989000	0.58080	0.528000	0.53228	CTA		0.458	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			3	54	0	0	0	1	0	3	54				
ZNF662	389114	broad.mit.edu	37	3	42954792	42954792	+	Missense_Mutation	SNP	C	C	T	rs77247576	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42954792C>T	ENST00000541208.1	+	4	620	c.251C>T	c.(250-252)cCg>cTg	p.P84L	ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84L|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTGATTTGTCCGGGTAAGTGA	0.423													C|||	43	0.00858626	0.0008	0.0	5008	,	,		17987	0.0387		0.0	False		,,,				2504	0.0031					ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(250-252)cCg>cTg		zinc finger protein 662		C	,LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	88.0	89.0	89.0		,251	2.2	0.5	3	dbSNP_131	89	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	ZNF662	NM_001134656.1,NM_207404.3	,98	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	,84/427	42954792	4,13002	2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42954792C>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.251C>T	3.37:g.42954792C>T	ENSP00000446208:p.Pro84Leu					ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84L|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Intron|KRBOX1_ENST00000426937.1_Intron	p.P84L			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	4	620	+			84					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.251C>T	CCDS2708.1	22	0.010073260073260074	0	0.0	0	0.0	22	0.038461538461538464	0	0.0	C	4.136	0.023557	0.08006	6.81E-4	1.16E-4	ENSG00000182983	ENST00000440367;ENST00000541208	T;T	0.41758	0.99;0.99	3.11	2.21	0.28008	.	.	.	.	.	T	0.05823	0.0152	N	0.19112	0.55	0.23855	N	0.996655	B	0.12013	0.005	B	0.06405	0.002	T	0.06789	-1.0807	9	0.25106	T	0.35	.	5.4063	0.16323	0.0:0.8421:0.0:0.1579	.	84	Q6ZS27	ZN662_HUMAN	L	84	ENSP00000405047:P84L;ENSP00000446208:P84L	ENSP00000405047:P84L	P	+	2	0	ZNF662	42929796	0.004000	0.15560	0.465000	0.27155	0.171000	0.22731	0.269000	0.18589	1.754000	0.51921	0.467000	0.42956	CCG		0.423	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		23	34	0	0	0	1	0	23	34				
CYLD	1540	broad.mit.edu	37	16	50785659	50785659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50785659G>A	ENST00000427738.3	+	3	854	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CYLD_ENST00000311559.9_Missense_Mutation_p.A217T|CYLD_ENST00000569418.1_Missense_Mutation_p.A217T|CYLD_ENST00000566206.1_Missense_Mutation_p.A217T|CYLD_ENST00000540145.1_Missense_Mutation_p.A217T|CYLD_ENST00000398568.2_Missense_Mutation_p.A217T|CYLD_ENST00000564326.1_Missense_Mutation_p.A217T|CYLD_ENST00000568704.2_Missense_Mutation_p.A217T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	217	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGTGATTACGCAGGTCCTGG	0.418			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(649-651)Gca>Aca		cylindromatosis (turban tumor syndrome)							134.0	128.0	130.0					16																	50785659		1947	4146	6093	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50785659G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.649G>A	16.37:g.50785659G>A	ENSP00000392025:p.Ala217Thr					CYLD_ENST00000564326.1_Missense_Mutation_p.A217T|CYLD_ENST00000566206.1_Missense_Mutation_p.A217T|CYLD_ENST00000568704.2_Missense_Mutation_p.A217T|CYLD_ENST00000398568.2_Missense_Mutation_p.A217T|CYLD_ENST00000311559.9_Missense_Mutation_p.A217T|CYLD_ENST00000569418.1_Missense_Mutation_p.A217T|CYLD_ENST00000427738.3_Missense_Mutation_p.A217T	p.A217T			Q9NQC7	CYLD_HUMAN			5	1064	+		all_cancers(37;0.0156)	217			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.649G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087651	0.55968	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.89	4.92	0.64577	Cytoskeleton-associated protein, Gly-rich domain (1);	0.296263	0.38058	N	0.001829	T	0.56731	0.2005	N	0.19112	0.55	0.41943	D	0.990629	P;P;P;P	0.51791	0.913;0.948;0.948;0.913	B;B;B;B	0.33890	0.083;0.172;0.172;0.083	T	0.61802	-0.6988	10	0.40728	T	0.16	-26.634	16.2877	0.82729	0.0:0.0:0.8666:0.1334	.	217;217;217;217	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	T	217	ENSP00000445447:A217T;ENSP00000308928:A217T;ENSP00000392025:A217T;ENSP00000381574:A217T	ENSP00000308928:A217T	A	+	1	0	CYLD	49343160	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	4.310000	0.59141	1.440000	0.47531	0.655000	0.94253	GCA		0.418	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			34	61	0	0	0	1	0	34	61				
DCUN1D5	84259	broad.mit.edu	37	11	102937048	102937048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102937048G>T	ENST00000260247.5	-	6	847	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.L84M	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	169	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTCCCAAGCAGAAGAGCTAAC	0.333																																						ENST00000260247.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)	4						c.(505-507)Ctg>Atg		DCN1, defective in cullin neddylation 1, domain containing 5							74.0	74.0	74.0					11																	102937048		2202	4299	6501	SO:0001583	missense	84259							g.chr11:102937048G>T		CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"""			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.505C>A	11.37:g.102937048G>T	ENSP00000260247:p.Leu169Met					DCUN1D5_ENST00000531543.1_Missense_Mutation_p.L84M	p.L169M	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)	6	847	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	169			DCUN1.		Q3ZTT2	Missense_Mutation	SNP	ENST00000260247.5	37	c.505C>A	CCDS8325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.948739|3.948739	0.73787|0.73787	.|.	.|.	ENSG00000137692|ENSG00000137692	ENST00000260247;ENST00000531543|ENST00000527260	T|.	0.29917|.	1.55|.	5.9|5.9	4.9|4.9	0.64082|0.64082	Domain of unknown function DUF298 (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79673|0.79673	0.4486|0.4486	M|M	0.91872|0.91872	3.25|3.25	0.54753|0.54753	D|D	0.999988|0.999988	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.82820|0.82820	-0.0268|-0.0268	10|5	0.72032|.	D|.	0.01|.	-24.9213|-24.9213	10.0178|10.0178	0.42024|0.42024	0.176:0.0:0.824:0.0|0.176:0.0:0.824:0.0	.|.	169|.	Q9BTE7|.	DCNL5_HUMAN|.	M|Y	169;84|140	ENSP00000260247:L169M|.	ENSP00000260247:L169M|.	L|S	-|-	1|2	2|0	DCUN1D5|DCUN1D5	102442258|102442258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.956000|1.956000	0.40382|0.40382	2.797000|2.797000	0.96272|0.96272	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.333	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386382.2	NM_032299		4	50	1	0	0.00024832	1	0.0002712	4	50				
PPP2R2A	5520	broad.mit.edu	37	8	26227731	26227731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26227731G>A	ENST00000380737.3	+	10	1475	c.1146G>A	c.(1144-1146)tcG>tcA	p.S382S	PPP2R2A_ENST00000315985.7_Silent_p.S392S	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	382					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S382S(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGCATCGCGGGAAAACA	0.418																																						ENST00000380737.3																			1	Substitution - coding silent(1)	p.S382S(1)	large_intestine(1)	kidney(1)|large_intestine(2)|ovary(1)	4						c.(1144-1146)tcG>tcA		protein phosphatase 2, regulatory subunit B, alpha							79.0	76.0	77.0					8																	26227731		2203	4300	6503	SO:0001819	synonymous_variant	5520							g.chr8:26227731G>A	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1146G>A	8.37:g.26227731G>A						PPP2R2A_ENST00000315985.7_Silent_p.S392S	p.S382S	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1475	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	37	c.1146G>A	CCDS34867.1																																																																																				0.418	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		22	26	0	0	0	1	0	22	26				
TAF5L	27097	broad.mit.edu	37	1	229738582	229738582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738582C>T	ENST00000366676.1	-	3	331	c.332G>A	c.(331-333)aGt>aAt	p.S111N	TAF5L_ENST00000366675.3_Missense_Mutation_p.S111N|TAF5L_ENST00000258281.2_Missense_Mutation_p.S111N			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	111					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCTTCGGACTGTTTTGGAC	0.453																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(331-333)aGt>aAt		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							63.0	61.0	62.0					1																	229738582		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738582C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.332G>A	1.37:g.229738582C>T	ENSP00000355636:p.Ser111Asn					TAF5L_ENST00000258281.2_Missense_Mutation_p.S111N|TAF5L_ENST00000366676.1_Missense_Mutation_p.S111N	p.S111N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	420	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	111					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.332G>A	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210827	0.39102	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.57436	0.4;0.4;1.01	5.6	5.6	0.85130	TFIID subunit, WD40-associated region (1);	0.089722	0.85682	D	0.000000	T	0.42765	0.1217	N	0.24115	0.695	0.40536	D	0.980971	B;B	0.20459	0.045;0.024	B;B	0.24269	0.046;0.052	T	0.25813	-1.0121	9	.	.	.	-11.1872	19.6236	0.95670	0.0:1.0:0.0:0.0	.	111;111	O75529-2;O75529	.;TAF5L_HUMAN	N	111	ENSP00000355636:S111N;ENSP00000258281:S111N;ENSP00000355635:S111N	.	S	-	2	0	TAF5L	227805205	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	7.445000	0.80570	2.633000	0.89246	0.643000	0.83706	AGT		0.453	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		8	81	0	0	0	1	0	8	81				
PPP1R16A	84988	broad.mit.edu	37	8	145726987	145726987	+	Missense_Mutation	SNP	C	C	T	rs548206071	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145726987C>T	ENST00000292539.4	+	11	2205	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000394955.2_5'Flank|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R430W|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	430						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGACTAGACCGGAGTGTCTC	0.657													.|||	2	0.000399361	0.0	0.0029	5008	,	,		16758	0.0		0.0	False		,,,				2504	0.0					ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1288-1290)Cgg>Tgg		protein phosphatase 1, regulatory subunit 16A							54.0	43.0	47.0					8																	145726987		2201	4296	6497	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145726987C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1288C>T	8.37:g.145726987C>T	ENSP00000292539:p.Arg430Trp					PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R430W	p.R430W			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	2205	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		430					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.1288C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790165	0.70337	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.74737	-0.87;-0.87	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	P	0.56514	0.8	D	0.83833	0.0253	10	0.66056	D	0.02	.	14.3237	0.66505	0.0:1.0:0.0:0.0	.	430	Q96I34	PP16A_HUMAN	W	430	ENSP00000292539:R430W;ENSP00000391126:R430W	ENSP00000292539:R430W	R	+	1	2	PPP1R16A	145697795	0.889000	0.30405	0.998000	0.56505	0.130000	0.20726	2.295000	0.43576	1.940000	0.56252	0.462000	0.41574	CGG		0.657	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		4	3	0	0	0	1	0	4	3				
CC2D1B	200014	broad.mit.edu	37	1	52825168	52825168	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52825168C>A	ENST00000371586.2	-	9	1119	c.981G>T	c.(979-981)caG>caT	p.Q327H	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q327H|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	327						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GATCCACGGGCTGCCCCTTCT	0.627																																						ENST00000371586.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(979-981)caG>caT		coiled-coil and C2 domain containing 1B							42.0	43.0	42.0					1																	52825168		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52825168C>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.981G>T	1.37:g.52825168C>A	ENSP00000360642:p.Gln327His					CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q327H	p.Q327H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			9	1119	-			327					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.981G>T	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.822648|3.822648	0.71028|0.71028	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573|ENST00000438021;ENST00000450942	T;T|.	0.24538|.	1.85;1.85|.	4.88|4.88	3.97|3.97	0.46021|0.46021	Domain of unknown function DM14 (1);|.	0.215747|.	0.39834|.	N|.	0.001241|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.59703|.	0.862;0.862|.	T|T	0.73519|0.73519	-0.3957|-0.3957	10|5	0.62326|.	D|.	0.03|.	-6.2709|-6.2709	11.8517|11.8517	0.52415|0.52415	0.0:0.9144:0.0:0.0856|0.0:0.9144:0.0:0.0856	.|.	113;327|.	Q5T0G1;Q5T0F9|.	.;C2D1B_HUMAN|.	H|I	327;327;241|114;247	ENSP00000360642:Q327H;ENSP00000284376:Q327H|.	ENSP00000284376:Q327H|.	Q|S	-|-	3|2	2|0	CC2D1B|CC2D1B	52597756|52597756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	2.131000|2.131000	0.42074|0.42074	1.268000|1.268000	0.44264|0.44264	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.627	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		10	21	1	0	6.40141e-05	1	7.11719e-05	10	21				
RSPRY1	89970	broad.mit.edu	37	16	57254721	57254721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57254721G>A	ENST00000537866.1	+	9	1852	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V327I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAGCAATGATGTCAGCGAGTA	0.423																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(979-981)Gtc>Atc		ring finger and SPRY domain containing 1							179.0	149.0	160.0					16																	57254721		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57254721G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.979G>A	16.37:g.57254721G>A	ENSP00000443176:p.Val327Ile					RSPRY1_ENST00000394420.4_Missense_Mutation_p.V327I	p.V327I			Q96DX4	RSPRY_HUMAN			9	1852	+			327			B30.2/SPRY.		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.979G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.697644	0.96802	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.73047	-0.71;-0.71	5.43	5.43	0.79202	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.82388	0.5026	M	0.85099	2.735	0.80722	D	1	D	0.62365	0.991	P	0.53401	0.725	D	0.84495	0.0613	10	0.51188	T	0.08	.	19.2689	0.94000	0.0:0.0:1.0:0.0	.	327	Q96DX4	RSPRY_HUMAN	I	327	ENSP00000377942:V327I;ENSP00000443176:V327I	ENSP00000377942:V327I	V	+	1	0	RSPRY1	55812222	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.758000	0.98927	2.546000	0.85860	0.655000	0.94253	GTC		0.423	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		26	41	0	0	0	1	0	26	41				
RPL18A	6142	broad.mit.edu	37	19	17972951	17972951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17972951C>T	ENST00000222247.5	+	3	328	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	RPL18A_ENST00000599898.1_Missense_Mutation_p.R44C|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Missense_Mutation_p.R54C|RPL18A_ENST00000600147.1_Missense_Mutation_p.R83C	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	83				R -> S (in Ref. 2; CAA56788). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GATCTGGCTGCGCTATGACTC	0.627																																						ENST00000600147.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(247-249)Cgc>Tgc		ribosomal protein L18a							49.0	52.0	51.0					19																	17972951		2203	4299	6502	SO:0001583	missense	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17972951C>T	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.247C>T	19.37:g.17972951C>T	ENSP00000222247:p.Arg83Cys					RPL18A_ENST00000599870.1_Missense_Mutation_p.R54C|RPL18A_ENST00000599898.1_Missense_Mutation_p.R44C|RPL18A_ENST00000222247.5_Missense_Mutation_p.R83C	p.R83C			Q02543	RL18A_HUMAN			3	283	+			83	R -> S (in Ref. 2; CAA56788).					Missense_Mutation	SNP	ENST00000222247.5	37	c.247C>T	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269482	0.40095	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.19	3.15	0.36227	Ribosomal protein L18a/LX (1);	0.055705	0.64402	D	0.000001	T	0.62085	0.2399	M	0.88310	2.945	0.80722	D	1	P	0.44690	0.841	B	0.40659	0.336	T	0.68689	-0.5342	9	0.87932	D	0	.	9.9959	0.41898	0.0:0.8979:0.0:0.1021	.	83	Q02543	RL18A_HUMAN	C	83	.	ENSP00000222247:R83C	R	+	1	0	RPL18A	17833951	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.595000	0.82710	0.902000	0.36520	-0.251000	0.11542	CGC		0.627	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		13	35	0	0	0	1	0	13	35				
SYDE2	84144	broad.mit.edu	37	1	85648578	85648578	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85648578C>T	ENST00000341460.5	-	3	1796	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	583					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTAGCAGCGGTGGTTGTG	0.403																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1747-1749)Gct>Act		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							139.0	134.0	135.0					1																	85648578		1869	4100	5969	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648578C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1747G>A	1.37:g.85648578C>T	ENSP00000340594:p.Ala583Thr						p.A583T	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1796	-			583					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1747G>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294775	0.81025	.	.	ENSG00000097096	ENST00000341460	T	0.08282	3.11	5.28	5.28	0.74379	.	0.317898	0.33161	N	0.005219	T	0.17408	0.0418	M	0.73598	2.24	0.35271	D	0.780469	D;D	0.71674	0.991;0.998	P;P	0.56751	0.736;0.805	T	0.01413	-1.1361	10	0.54805	T	0.06	.	18.9027	0.92449	0.0:1.0:0.0:0.0	.	583;583	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	T	583	ENSP00000340594:A583T	ENSP00000340594:A583T	A	-	1	0	SYDE2	85421166	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	3.896000	0.56266	2.478000	0.83669	0.650000	0.86243	GCT		0.403	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			9	160	0	0	0	1	0	9	160				
RNPEP	6051	broad.mit.edu	37	1	201970880	201970880	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201970880G>T	ENST00000295640.4	+	8	1454	c.1411G>T	c.(1411-1413)Gtg>Ttg	p.V471L	RNPEP_ENST00000367286.3_Missense_Mutation_p.V432L|RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	471					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAAAAGAGAGTGGATATCAT	0.433																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1411-1413)Gtg>Ttg		arginyl aminopeptidase (aminopeptidase B)							101.0	103.0	103.0					1																	201970880		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201970880G>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1411G>T	1.37:g.201970880G>T	ENSP00000295640:p.Val471Leu					RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.V432L|RP11-465N4.4_ENST00000419190.1_RNA	p.V471L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	8	1454	+			471					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1411G>T	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.092986	0.36952	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.04454	3.62;3.62;3.91	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.07863	0.0197	L	0.58101	1.795	0.58432	D	0.999998	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.005	T	0.27468	-1.0073	10	0.17832	T	0.49	-29.1415	17.8199	0.88647	0.0:0.0:1.0:0.0	.	479;471	Q7RU04;Q9H4A4	.;AMPB_HUMAN	L	471;432;340	ENSP00000295640:V471L;ENSP00000356255:V432L;ENSP00000389602:V340L	ENSP00000295640:V471L	V	+	1	0	RNPEP	200237503	1.000000	0.71417	0.939000	0.37840	0.262000	0.26303	7.552000	0.82192	2.477000	0.83638	0.561000	0.74099	GTG		0.433	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		55	64	1	0	5.57489e-27	1	7.43239e-27	55	64				
ZSWIM8	23053	broad.mit.edu	37	10	75550024	75550024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75550024C>T	ENST00000605216.1	+	7	1132	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ZSWIM8_ENST00000398706.2_Silent_p.F305F|ZSWIM8_ENST00000604729.1_Silent_p.F305F|ZSWIM8_ENST00000604524.1_Silent_p.F305F|ZSWIM8_ENST00000603114.1_Silent_p.F305F	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	305							zinc ion binding (GO:0008270)	p.F305L(2)									TGCACAAGTTCTGTGGCCCCT	0.542																																						ENST00000604729.1																			2	Substitution - Missense(2)	p.F305L(2)	large_intestine(2)								c.(913-915)ttC>ttT		zinc finger, SWIM-type containing 8							160.0	161.0	160.0					10																	75550024		2008	4182	6190	SO:0001819	synonymous_variant	23053							g.chr10:75550024C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.915C>T	10.37:g.75550024C>T						ZSWIM8_ENST00000604524.1_Silent_p.F305F|ZSWIM8_ENST00000398706.2_Silent_p.F305F|ZSWIM8_ENST00000603114.1_Silent_p.F305F|ZSWIM8_ENST00000605216.1_Silent_p.F305F	p.F305F							7	1212	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.915C>T		.	.	.	.	.	.	.	.	.	.	C	7.120	0.577676	0.13686	.	.	ENSG00000214655	ENST00000451629	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57894	-0.7732	4	.	.	.	-6.5505	9.7673	0.40567	0.0:0.8491:0.0:0.1509	.	.	.	.	F	108	.	.	S	+	2	0	KIAA0913	75220030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.911000	0.48774	2.780000	0.95670	0.655000	0.94253	TCT		0.542	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		41	74	0	0	0	1	0	41	74				
COG5	10466	broad.mit.edu	37	7	106898773	106898773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106898773C>A	ENST00000347053.3	-	15	1774	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	COG5_ENST00000393603.2_Missense_Mutation_p.R575I|COG5_ENST00000297135.3_Missense_Mutation_p.R575I	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	575					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACATTTCTTCTCTGTCCTTC	0.328																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(1723-1725)aGa>aTa		component of oligomeric golgi complex 5							194.0	180.0	185.0					7																	106898773		2203	4300	6503	SO:0001583	missense	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106898773C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1724G>T	7.37:g.106898773C>A	ENSP00000334703:p.Arg575Ile					COG5_ENST00000297135.3_Missense_Mutation_p.R575I|COG5_ENST00000347053.3_Missense_Mutation_p.R575I	p.R575I	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			15	1995	-			575					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.1724G>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213870	0.58452	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.57907	0.37;0.37;0.37	6.03	5.08	0.68730	.	0.044215	0.85682	D	0.000000	T	0.49304	0.1549	M	0.65975	2.015	0.80722	D	1	B;B	0.24132	0.059;0.098	B;B	0.24155	0.033;0.051	T	0.47209	-0.9135	10	0.41790	T	0.15	-11.9067	9.0541	0.36394	0.0:0.8739:0.0:0.1261	.	575;575	Q9UP83;Q9UP83-2	COG5_HUMAN;.	I	575	ENSP00000334703:R575I;ENSP00000297135:R575I;ENSP00000377228:R575I	ENSP00000297135:R575I	R	-	2	0	COG5	106686009	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.958000	0.56737	1.334000	0.45468	0.655000	0.94253	AGA		0.328	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			18	170	1	0	5.35267e-07	1	6.25286e-07	18	170				
LMAN2L	81562	broad.mit.edu	37	2	97369334	97369334	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97369334G>A	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.S1958S(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GAGGCCAGTCGGAACCCAACC	0.567																																						ENST00000457909.1																			1	Substitution - coding silent(1)	p.S1958S(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							74.0	83.0	80.0					2																	97369334		1986	4155	6141	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97369334G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97369334G>A										A0AVI2	FR1L5_HUMAN			0	5269	+								B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	RNA	SNP	ENST00000264963.4	37		CCDS2023.1																																																																																				0.567	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		6	27	0	0	0	1	0	6	27				
POPDC3	64208	broad.mit.edu	37	6	105609839	105609839	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105609839G>T	ENST00000254765.3	-	0	224				POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3						regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTGAAACAGGTAACTAAGT	0.403																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26								popeye domain containing 3																																						64208					integral to membrane		g.chr6:105609839G>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.-55C>A	6.37:g.105609839G>T						BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA		NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			0	224	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)						B2RA98|Q5T3Y8|Q8TBW6	Translation_Start_Site	SNP	ENST00000254765.3	37		CCDS5052.1																																																																																				0.403	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		20	34	1	0	1.15919e-05	1	1.31461e-05	20	34				
SLC35G2	80723	broad.mit.edu	37	3	136573853	136573853	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136573853C>T	ENST00000446465.2	+	2	1179	c.551C>T	c.(550-552)aCa>aTa	p.T184I	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.T184I|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TGTGCTTATACATCATTTTCA	0.423																																						ENST00000446465.2																			0											c.(550-552)aCa>aTa		solute carrier family 35, member G2							141.0	133.0	136.0					3																	136573853		2203	4300	6503	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136573853C>T	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.551C>T	3.37:g.136573853C>T	ENSP00000400839:p.Thr184Ile					SLC35G2_ENST00000393079.3_Missense_Mutation_p.T184I|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	p.T184I	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	1179	+			184			DUF6 1.			Missense_Mutation	SNP	ENST00000446465.2	37	c.551C>T	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923487	0.73213	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.51325	0.71;0.71	5.69	5.69	0.88448	Drug/metabolite transporter (1);	0.047014	0.85682	D	0.000000	T	0.51584	0.1683	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	D	0.63192	0.912	T	0.54675	-0.8258	10	0.46703	T	0.11	.	18.3768	0.90438	0.0:1.0:0.0:0.0	.	184	Q8TBE7	TMM22_HUMAN	I	184	ENSP00000400839:T184I;ENSP00000376794:T184I	ENSP00000376794:T184I	T	+	2	0	TMEM22	138056543	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.372000	0.79612	2.683000	0.91414	0.591000	0.81541	ACA		0.423	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		52	93	0	0	0	1	0	52	93				
NCOR2	9612	broad.mit.edu	37	12	124816898	124816898	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124816898G>A	ENST00000405201.1	-	43	6871	c.6871C>T	c.(6871-6873)Ctg>Ttg	p.L2291L	NCOR2_ENST00000397355.1_Silent_p.L2282L|NCOR2_ENST00000429285.2_Silent_p.L2281L|NCOR2_ENST00000404621.1_Silent_p.L2281L|NCOR2_ENST00000356219.3_Silent_p.L2298L|NCOR2_ENST00000404121.2_Silent_p.L1852L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2302					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGTGTTCAGCTTCTTGTTG	0.612											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(6892-6894)Ctg>Ttg		nuclear receptor corepressor 2							159.0	158.0	158.0					12																	124816898		2050	4183	6233	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124816898G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6871C>T	12.37:g.124816898G>A			OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1537	NCOR2_ENST00000404621.1_Silent_p.L2281L|NCOR2_ENST00000397355.1_Silent_p.L2282L|NCOR2_ENST00000429285.2_Silent_p.L2281L|NCOR2_ENST00000405201.1_Silent_p.L2291L|NCOR2_ENST00000404121.2_Silent_p.L1852L	p.L2298L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	44	7047	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2302					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.6892C>T	CCDS41858.2																																																																																				0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	96	0	0	0	1	0	5	96				
ANLN	54443	broad.mit.edu	37	7	36450152	36450152	+	Missense_Mutation	SNP	C	C	T	rs559978701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36450152C>T	ENST00000265748.2	+	6	1347	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.R376C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	376	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTCCTGGAACGCTTTGGAGA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		16895	0.0		0.0	False		,,,				2504	0.001					ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1126-1128)Cgc>Tgc		anillin, actin binding protein							82.0	80.0	81.0					7																	36450152		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36450152C>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1126C>T	7.37:g.36450152C>T	ENSP00000265748:p.Arg376Cys					ANLN_ENST00000396068.2_Missense_Mutation_p.R376C|ANLN_ENST00000495714.1_3'UTR	p.R376C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			6	1347	+			376			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1126C>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239456	0.79800	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.20069	2.21;2.1	5.63	3.85	0.44370	.	0.095114	0.85682	D	0.000000	T	0.45256	0.1333	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.971;1.0;1.0;1.0	T	0.43491	-0.9388	10	0.87932	D	0	-7.4404	12.3013	0.54876	0.0:0.8629:0.0:0.1371	.	253;376;376;376	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	C	376	ENSP00000265748:R376C;ENSP00000379380:R376C	ENSP00000265748:R376C	R	+	1	0	ANLN	36416677	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.584000	0.60971	0.759000	0.33084	-0.194000	0.12790	CGC		0.398	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		39	20	0	0	0	1	0	39	20				
SRPK1	6732	broad.mit.edu	37	6	35810363	35810363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35810363C>A	ENST00000373825.2	-	14	1924	c.1639G>T	c.(1639-1641)Ggt>Tgt	p.G547C	SRPK1_ENST00000373822.1_Missense_Mutation_p.G439C|SRPK1_ENST00000423325.2_Missense_Mutation_p.G531C					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AAATAGTCACCTGTGGCCAGT	0.418																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1639-1641)Ggt>Tgt		SRSF protein kinase 1							73.0	66.0	68.0					6																	35810363		1886	4108	5994	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35810363C>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1639G>T	6.37:g.35810363C>A	ENSP00000362931:p.Gly547Cys					SRPK1_ENST00000423325.2_Missense_Mutation_p.G531C|SRPK1_ENST00000373822.1_Missense_Mutation_p.G439C	p.G547C			Q96SB4	SRPK1_HUMAN			14	1924	-			547			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.1639G>T	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155191	0.78114	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.18	4.31	0.51392	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.64204	0.2577	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.972	T	0.77416	-0.2596	9	0.87932	D	0	-5.0245	14.278	0.66194	0.0:0.9274:0.0:0.0726	.	531;547	B4DS61;Q96SB4	.;SRPK1_HUMAN	C	547;563;531;439	ENSP00000362931:G547C;ENSP00000354674:G563C;ENSP00000391069:G531C;ENSP00000362928:G439C	ENSP00000354674:G563C	G	-	1	0	SRPK1	35918341	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.442000	0.80503	1.315000	0.45114	0.491000	0.48974	GGT		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		9	21	1	0	5.4927e-09	1	6.6252e-09	9	21				
PAFAH2	5051	broad.mit.edu	37	1	26310982	26310982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26310982G>A	ENST00000374282.3	-	5	558	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R127C	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	127					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAAGCCACGTGAGGCCAGC	0.517																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(379-381)Cgt>Tgt		platelet-activating factor acetylhydrolase 2, 40kDa							57.0	55.0	55.0					1																	26310982		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26310982G>A	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.379C>T	1.37:g.26310982G>A	ENSP00000363400:p.Arg127Cys					PAFAH2_ENST00000374284.1_Missense_Mutation_p.R127C|PAFAH2_ENST00000493892.1_5'UTR	p.R127C	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	5	558	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	127					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.379C>T	CCDS270.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534504	0.85812	.	.	ENSG00000158006	ENST00000374282;ENST00000374284;ENST00000439092;ENST00000441420	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.14	5.14	0.70334	.	0.556380	0.17567	N	0.169590	T	0.57946	0.2088	L	0.49640	1.575	0.40389	D	0.979522	D	0.60575	0.988	P	0.54401	0.751	T	0.61836	-0.6981	10	0.62326	D	0.03	-0.0276	17.3633	0.87357	0.0:0.0:1.0:0.0	.	127	Q99487	PAFA2_HUMAN	C	127	ENSP00000363400:R127C;ENSP00000363402:R127C;ENSP00000408313:R127C;ENSP00000411011:R127C	ENSP00000363400:R127C	R	-	1	0	PAFAH2	26183569	1.000000	0.71417	0.698000	0.30274	0.934000	0.57294	5.552000	0.67281	2.393000	0.81446	0.557000	0.71058	CGT		0.517	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		9	9	0	0	0	1	0	9	9				
SLC35D1	23169	broad.mit.edu	37	1	67486098	67486098	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67486098G>A	ENST00000235345.5	-	10	915	c.830C>T	c.(829-831)aCg>aTg	p.T277M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T198M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	277					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						ATTATACTGCGTGCAGAGTAC	0.333																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(829-831)aCg>aTg		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						110.0	109.0	110.0					1																	67486098		2203	4300	6503	SO:0001583	missense	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67486098G>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.830C>T	1.37:g.67486098G>A	ENSP00000235345:p.Thr277Met					SLC35D1_ENST00000506472.2_Missense_Mutation_p.T198M	p.T277M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			10	915	-			277					A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	c.830C>T	CCDS636.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465913	0.63625	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.63096	-0.02;-0.02	6.16	6.16	0.99307	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.83722	0.0193	10	0.44086	T	0.13	-9.309	19.6313	0.95704	0.0:0.0:1.0:0.0	.	198;277	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	M	277;198	ENSP00000235345:T277M;ENSP00000445189:T198M	ENSP00000235345:T277M	T	-	2	0	SLC35D1	67258686	1.000000	0.71417	0.986000	0.45419	0.121000	0.20230	8.014000	0.88676	2.937000	0.99478	0.650000	0.86243	ACG		0.333	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		7	62	0	0	0	1	0	7	62				
MACC1	346389	broad.mit.edu	37	7	20199790	20199790	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20199790T>G	ENST00000400331.5	-	5	502	c.194A>C	c.(193-195)aAt>aCt	p.N65T	MACC1_ENST00000589011.1_Missense_Mutation_p.N65T|MACC1_ENST00000332878.4_Missense_Mutation_p.N65T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	65					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGAATGGATTTGCAACTTT	0.378																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(193-195)aAt>aCt		metastasis associated in colon cancer 1							66.0	67.0	67.0					7																	20199790		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199790T>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.194A>C	7.37:g.20199790T>G	ENSP00000383185:p.Asn65Thr					MACC1_ENST00000589011.1_Missense_Mutation_p.N65T|MACC1_ENST00000332878.4_Missense_Mutation_p.N65T	p.N65T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	502	-			65					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.194A>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764830	0.69878	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.19250	2.16;2.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48210	-0.9055	10	0.87932	D	0	-25.589	16.1758	0.81851	0.0:0.0:0.0:1.0	.	65	Q6ZN28	MACC1_HUMAN	T	65	ENSP00000383185:N65T;ENSP00000328410:N65T	ENSP00000328410:N65T	N	-	2	0	MACC1	20166315	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	8.008000	0.88588	2.225000	0.72522	0.477000	0.44152	AAT		0.378	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		61	44	0	0	0	1	0	61	44				
FAM69A	388650	broad.mit.edu	37	1	93341945	93341945	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93341945A>C	ENST00000370310.4	-	2	167	c.97T>G	c.(97-99)Tgg>Ggg	p.W33G		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	33						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACCACTAACCAGGAAAAGAAA	0.348																																						ENST00000370310.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						c.(97-99)Tgg>Ggg		family with sequence similarity 69, member A							76.0	73.0	74.0					1																	93341945		1844	4095	5939	SO:0001583	missense	388650					endoplasmic reticulum membrane|integral to membrane		g.chr1:93341945A>C	AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.97T>G	1.37:g.93341945A>C	ENSP00000359333:p.Trp33Gly						p.W33G	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)	2	167	-		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	33					Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	37	c.97T>G	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899965	0.72754	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.47177	0.85	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.991;0.991;0.999	T	0.59284	-0.7483	10	0.40728	T	0.16	-6.3887	15.5152	0.75818	1.0:0.0:0.0:0.0	.	26;33;33	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	G	33	ENSP00000359333:W33G	ENSP00000359333:W33G	W	-	1	0	FAM69A	93114533	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.880000	0.92407	2.199000	0.70637	0.533000	0.62120	TGG		0.348	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605		8	51	0	0	0	1	0	8	51				
DPYD	1806	broad.mit.edu	37	1	98187214	98187214	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98187214G>T	ENST00000370192.3	-	5	435	c.335C>A	c.(334-336)gCt>gAt	p.A112D	DPYD_ENST00000423006.2_Missense_Mutation_p.A75D|DPYD_ENST00000306031.5_Missense_Mutation_p.A112D|DPYD_ENST00000474241.1_5'Flank	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	112					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CATCTTAGCAGCTCCATAATA	0.323																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(334-336)gCt>gAt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						69.0	69.0	69.0					1																	98187214		2203	4298	6501	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98187214G>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.335C>A	1.37:g.98187214G>T	ENSP00000359211:p.Ala112Asp					DPYD_ENST00000306031.5_Missense_Mutation_p.A112D|DPYD_ENST00000423006.2_Missense_Mutation_p.A75D	p.A112D	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	5	435	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	112					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.335C>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947467	0.92593	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.82255	-1.59;-1.59;-1.59	6.06	6.06	0.98353	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.334103	0.34676	N	0.003765	D	0.94450	0.8214	H	0.96833	3.89	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.72982	0.979;0.854	D	0.95210	0.8324	10	0.87932	D	0	-14.3314	20.6397	0.99537	0.0:0.0:1.0:0.0	.	112;112	E9PFN1;Q12882	.;DPYD_HUMAN	D	112;75;112	ENSP00000359211:A112D;ENSP00000398884:A75D;ENSP00000307107:A112D	ENSP00000307107:A112D	A	-	2	0	DPYD	97959802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.405000	0.97313	2.880000	0.98712	0.650000	0.86243	GCT		0.323	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		18	43	1	0	2.39187e-15	1	3.06793e-15	18	43				
RFX2	5990	broad.mit.edu	37	19	5994951	5994951	+	Silent	SNP	G	G	A	rs368023215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5994951G>A	ENST00000303657.5	-	18	2216	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	RFX2_ENST00000592546.1_Silent_p.G664G|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.G689G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTCATCGCCCATGTCAT	0.662																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2065-2067)ggC>ggT		regulatory factor X, 2 (influences HLA class II expression)		G	,	0,4406		0,0,2203	30.0	31.0	30.0		2067,1992	-9.8	0.0	19		30	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RFX2	NM_000635.3,NM_134433.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	689/724,664/699	5994951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:5994951G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.2067C>T	19.37:g.5994951G>A						RFX2_ENST00000359161.3_Silent_p.G689G|RFX2_ENST00000592546.1_Silent_p.G664G|CTC-232P5.1_ENST00000587836.1_RNA	p.G689G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			18	2216	-			689					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.2067C>T	CCDS12157.1																																																																																				0.662	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		21	11	0	0	0	1	0	21	11				
LRRC3B	116135	broad.mit.edu	37	3	26751326	26751326	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:26751326C>A	ENST00000396641.2	+	2	755	c.163C>A	c.(163-165)Ctc>Atc	p.L55I	LRRC3B_ENST00000456208.2_Missense_Mutation_p.L55I|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.L55I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	55	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATGCAAATCTCAAGGAAAT	0.413																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(163-165)Ctc>Atc		leucine rich repeat containing 3B							123.0	119.0	121.0					3																	26751326		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751326C>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.163C>A	3.37:g.26751326C>A	ENSP00000379880:p.Leu55Ile					LRRC3B_ENST00000417744.1_Missense_Mutation_p.L55I|LRRC3B_ENST00000456208.2_Missense_Mutation_p.L55I	p.L55I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	755	+			55			LRRNT.		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.163C>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971150	0.74246	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.99511	-6.05;-6.05;-6.05;-6.05	6.17	6.17	0.99709	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	M	0.64170	1.965	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.99671	1.0996	10	0.72032	D	0.01	-11.1262	19.8676	0.96824	0.0:1.0:0.0:0.0	.	55	Q96PB8	LRC3B_HUMAN	I	55	ENSP00000379880:L55I;ENSP00000398184:L55I;ENSP00000406370:L55I;ENSP00000394940:L55I	ENSP00000379880:L55I	L	+	1	0	LRRC3B	26726330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.647000	0.61418	2.941000	0.99782	0.655000	0.94253	CTC		0.413	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		6	72	1	0	0.00116845	1	0.00124821	6	72				
C3AR1	719	broad.mit.edu	37	12	8212652	8212652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212652C>T	ENST00000307637.4	-	2	333	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	44					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACCCACAGCACCAGCCCATTG	0.542																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(130-132)Gtg>Atg		complement component 3a receptor 1							79.0	74.0	75.0					12																	8212652		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212652C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.130G>A	12.37:g.8212652C>T	ENSP00000302079:p.Val44Met						p.V44M	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	333	-			44					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.130G>A	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943726	0.92593	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	D;D	0.84800	-1.9;-1.9	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	D	0.94870	0.8342	H	0.95114	3.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95990	0.8985	10	0.87932	D	0	.	17.2652	0.87085	0.0:1.0:0.0:0.0	.	44	Q16581	C3AR_HUMAN	M	44	ENSP00000302079:V44M;ENSP00000444500:V44M	ENSP00000302079:V44M	V	-	1	0	C3AR1	8103919	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.672000	0.90937	0.484000	0.47621	GTG		0.542	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			18	49	0	0	0	1	0	18	49				
NCAN	1463	broad.mit.edu	37	19	19329930	19329930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19329930C>A	ENST00000252575.6	+	3	379	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	94	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTTGCCCATCCTGGTGGCCAA	0.642																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(280-282)Ctg>Atg		neurocan							65.0	54.0	58.0					19																	19329930		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19329930C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.280C>A	19.37:g.19329930C>A	ENSP00000252575:p.Leu94Met						p.L94M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	323	+			94			Ig-like V-type.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.280C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628984	0.67015	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.67171	-0.25	4.77	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30723	N	0.009018	T	0.76492	0.3995	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75357	-0.3346	10	0.66056	D	0.02	-4.2102	5.5841	0.17266	0.0:0.7029:0.0:0.2971	.	94	O14594	NCAN_HUMAN	M	108;94	ENSP00000252575:L94M	ENSP00000252575:L94M	L	+	1	2	NCAN	19190930	0.998000	0.40836	0.983000	0.44433	0.968000	0.65278	3.097000	0.50251	0.832000	0.34804	0.491000	0.48974	CTG		0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		9	16	1	0	0.00829132	1	0.00869385	9	16				
TMEM81	388730	broad.mit.edu	37	1	205053118	205053118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205053118C>T	ENST00000367167.3	-	1	527	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	111	Ig-like.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGTCCAAACTCCAAGATGTCT	0.488																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(331-333)Gag>Aag		transmembrane protein 81							90.0	91.0	91.0					1																	205053118		2203	4300	6503	SO:0001583	missense	388730					integral to membrane		g.chr1:205053118C>T	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.331G>A	1.37:g.205053118C>T	ENSP00000356135:p.Glu111Lys						p.E111K	NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	527	-	all_cancers(21;0.144)|Breast(84;0.0437)		111			Ig-like.		Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	37	c.331G>A	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180841	0.21787	.	.	ENSG00000174529	ENST00000367167	T	0.32023	1.47	5.38	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.659654	0.14653	N	0.306493	T	0.20455	0.0492	L	0.44542	1.39	0.27872	N	0.940017	P	0.36535	0.557	B	0.30782	0.12	T	0.07693	-1.0759	10	0.09843	T	0.71	-24.0556	10.172	0.42915	0.0:0.7881:0.1352:0.0766	.	111	Q6P7N7	TMM81_HUMAN	K	111	ENSP00000356135:E111K	ENSP00000356135:E111K	E	-	1	0	TMEM81	203319741	0.020000	0.18652	0.934000	0.37439	0.730000	0.41778	1.295000	0.33377	1.387000	0.46486	0.467000	0.42956	GAG		0.488	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		34	26	0	0	0	1	0	34	26				
ZNF100	163227	broad.mit.edu	37	19	21909784	21909784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21909784G>T	ENST00000358296.6	-	5	1528	c.1330C>A	c.(1330-1332)Ctt>Att	p.L444I	ZNF100_ENST00000305570.6_Missense_Mutation_p.L380I	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGTAGTAAGGTTTGAGGAC	0.408																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1330-1332)Ctt>Att		zinc finger protein 100							68.0	74.0	72.0					19																	21909784		2199	4295	6494	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909784G>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1330C>A	19.37:g.21909784G>T	ENSP00000351042:p.Leu444Ile					ZNF100_ENST00000305570.6_Missense_Mutation_p.L380I	p.L444I	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	1528	-			444					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.1330C>A	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	5.619	0.298860	0.10622	.	.	ENSG00000197020	ENST00000358296	T	0.53857	0.6	0.867	0.867	0.19085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71273	0.3320	M	0.91140	3.18	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.992	T	0.58267	-0.7666	9	0.87932	D	0	.	1.8157	0.03099	0.2466:0.0:0.4301:0.3233	.	444;498	Q8IYN0;Q4G131	ZN100_HUMAN;.	I	444	ENSP00000351042:L444I	ENSP00000351042:L444I	L	-	1	0	ZNF100	21701624	0.085000	0.21516	0.616000	0.29078	0.617000	0.37484	0.427000	0.21379	0.284000	0.22305	0.289000	0.19496	CTT		0.408	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		5	68	1	0	3.59834e-05	1	4.01776e-05	5	68				
NIPBL	25836	broad.mit.edu	37	5	36976068	36976068	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36976068G>T	ENST00000282516.8	+	9	1558	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K353N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	353					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCCATCCAAGGACTCTACTA	0.368																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1057-1059)aaG>aaT		Nipped-B homolog (Drosophila)							104.0	109.0	107.0					5																	36976068		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976068G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1059G>T	5.37:g.36976068G>T	ENSP00000282516:p.Lys353Asn					NIPBL_ENST00000448238.2_Missense_Mutation_p.K353N|NIPBL_ENST00000504430.1_3'UTR	p.K353N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1558	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		353					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1059G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831780	0.50845	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.97480	-4.37;-4.4	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	L	0.27053	0.805	0.45378	D	0.998369	D;D	0.76494	0.998;0.999	D;D	0.78314	0.981;0.991	D	0.96048	0.9029	10	0.46703	T	0.11	.	12.2121	0.54386	0.0785:0.0:0.9215:0.0	.	353;353	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	353	ENSP00000282516:K353N;ENSP00000406266:K353N	ENSP00000282516:K353N	K	+	3	2	NIPBL	37011825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.918000	0.56432	2.447000	0.82792	0.467000	0.42956	AAG		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		20	40	1	0	3.51602e-12	1	4.4132e-12	20	40				
GOT1L1	137362	broad.mit.edu	37	8	37793302	37793302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37793302C>A	ENST00000307599.4	-	7	948	c.849G>T	c.(847-849)caG>caT	p.Q283H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.Q24H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	283					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCCACAGGGCCTGGGCTAATC	0.592																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(847-849)caG>caT		glutamic-oxaloacetic transaminase 1-like 1							62.0	68.0	66.0					8																	37793302		2069	4211	6280	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793302C>A	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.849G>T	8.37:g.37793302C>A	ENSP00000303077:p.Gln283His					GOT1L1_ENST00000518826.1_Missense_Mutation_p.Q24H	p.Q283H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	948	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	283					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.849G>T	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314831	0.23908	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	T;T	0.22134	1.97;1.97	5.11	4.22	0.49857	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.934171	0.08832	N	0.887201	T	0.32466	0.0830	L	0.54323	1.7	0.09310	N	1	P	0.49696	0.927	P	0.52109	0.69	T	0.14896	-1.0456	10	0.87932	D	0	-0.8131	8.4091	0.32634	0.186:0.6536:0.1604:0.0	.	283	Q8NHS2	AATC2_HUMAN	H	283;24	ENSP00000303077:Q283H;ENSP00000429558:Q24H	ENSP00000303077:Q283H	Q	-	3	2	GOT1L1	37912460	0.000000	0.05858	0.757000	0.31301	0.020000	0.10135	0.488000	0.22371	1.132000	0.42129	0.650000	0.86243	CAG		0.592	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		6	40	1	0	0.00116845	1	0.00124821	6	40				
GNPTAB	79158	broad.mit.edu	37	12	102158832	102158832	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158832G>A	ENST00000299314.7	-	13	2125	c.1863C>T	c.(1861-1863)aaC>aaT	p.N621N	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	621					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTCTTCATCGTTTGTATTTT	0.403																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1861-1863)aaC>aaT		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							230.0	214.0	219.0					12																	102158832		2203	4300	6503	SO:0001819	synonymous_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158832G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1863C>T	12.37:g.102158832G>A							p.N621N	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2125	-			621					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.1863C>T	CCDS9088.1																																																																																				0.403	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			50	68	0	0	0	1	0	50	68				
CALML5	51806	broad.mit.edu	37	10	5541121	5541121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5541121C>T	ENST00000380332.3	-	1	412	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	94	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTGGCCGTCGCCATCCTGGTC	0.706																																					GBM(149;1055 3356 43077)	ENST00000380332.3																			0				biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						c.(280-282)gGc>gAc		calmodulin-like 5							25.0	26.0	26.0					10																	5541121		2203	4299	6502	SO:0001583	missense	51806				epidermis development|signal transduction		calcium ion binding|protein binding	g.chr10:5541121C>T	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"""EF-hand domain containing"""	18180	protein-coding gene	gene with protein product	"""calmodulin-like skin protein"""	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.281G>A	10.37:g.5541121C>T	ENSP00000369689:p.Gly94Asp						p.G94D	NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN			1	412	-			94			EF-hand 3.		Q5SQI3|Q8IXU8	Missense_Mutation	SNP	ENST00000380332.3	37	c.281G>A	CCDS7068.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286473	0.40494	.	.	ENSG00000178372	ENST00000380332	T	0.74209	-0.82	4.68	1.82	0.25136	EF-hand-like domain (1);	0.101811	0.43416	N	0.000579	T	0.68412	0.2998	M	0.64404	1.975	0.50313	D	0.999864	P	0.45396	0.857	B	0.41666	0.363	T	0.66984	-0.5785	10	0.87932	D	0	-28.6744	8.0715	0.30691	0.0:0.735:0.0:0.265	.	94	Q9NZT1	CALL5_HUMAN	D	94	ENSP00000369689:G94D	ENSP00000369689:G94D	G	-	2	0	CALML5	5531121	0.229000	0.23729	0.033000	0.17914	0.002000	0.02628	1.954000	0.40362	0.282000	0.22254	-0.136000	0.14681	GGC		0.706	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046556.1	NM_017422		4	14	0	0	0	1	0	4	14				
PEX5L	51555	broad.mit.edu	37	3	179519707	179519707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179519707G>A	ENST00000467460.1	-	15	2120	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	PEX5L_ENST00000485199.1_Missense_Mutation_p.A562V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.A489V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A405V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A595V|RP11-494H4.3_ENST00000602704.1_lincRNA|PEX5L_ENST00000465751.1_Missense_Mutation_p.A573V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A554V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A489V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A538V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	597					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGAGAGAGCGCAATTCTGAG	0.473																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1789-1791)gCg>gTg		peroxisomal biogenesis factor 5-like							161.0	170.0	167.0					3																	179519707		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179519707G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1790C>T	3.37:g.179519707G>A	ENSP00000419975:p.Ala597Val					PEX5L_ENST00000476138.1_Missense_Mutation_p.A554V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A595V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A562V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.A489V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A405V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A489V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A538V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A573V	p.A597V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		15	2120	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		597					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1790C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075024	0.76415	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	N	0.25890	0.77	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.937;1.0;1.0;1.0	D;D;B;D;D;D	0.83275	0.969;0.969;0.164;0.996;0.994;0.991	T	0.78288	-0.2262	10	0.25106	T	0.35	-15.5617	20.1951	0.98241	0.0:0.0:1.0:0.0	.	538;573;489;595;562;597	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	597;595;562;595;489;405;554;485;538;489;573	ENSP00000419975:A597V;ENSP00000263962:A595V;ENSP00000418440:A562V;ENSP00000376420:A489V;ENSP00000418665:A405V;ENSP00000420555:A554V;ENSP00000418054:A538V;ENSP00000417270:A489V;ENSP00000419348:A573V	ENSP00000263962:A595V	A	-	2	0	PEX5L	181002401	1.000000	0.71417	0.963000	0.40424	0.920000	0.55202	9.476000	0.97823	2.780000	0.95670	0.585000	0.79938	GCG		0.473	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		67	151	0	0	0	1	0	67	151				
FAT2	2196	broad.mit.edu	37	5	150946459	150946459	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946459T>G	ENST00000261800.5	-	1	2046	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	678					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTTGTGAATTGTGTCAATA	0.398																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(2032-2034)caA>caC		FAT atypical cadherin 2							117.0	109.0	112.0					5																	150946459		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946459T>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2034A>C	5.37:g.150946459T>G	ENSP00000261800:p.Gln678His						p.Q678H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2046	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	678					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.2034A>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	7.982	0.751503	0.15778	.	.	ENSG00000086570	ENST00000261800	T	0.43294	0.95	5.57	-11.1	0.00147	.	0.493791	0.20497	N	0.091179	T	0.09774	0.0240	N	0.02916	-0.46	0.20074	N	0.999934	B	0.02656	0.0	B	0.04013	0.001	T	0.10823	-1.0613	10	0.17832	T	0.49	.	3.411	0.07359	0.1207:0.4106:0.2083:0.2604	.	678	Q9NYQ8	FAT2_HUMAN	H	678	ENSP00000261800:Q678H	ENSP00000261800:Q678H	Q	-	3	2	FAT2	150926652	0.017000	0.18338	0.098000	0.21074	0.883000	0.51084	-0.549000	0.06041	-2.458000	0.00538	-0.766000	0.03442	CAA		0.398	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		11	94	0	0	0	1	0	11	94				
COPB2	9276	broad.mit.edu	37	3	139092102	139092102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092102G>A	ENST00000333188.5	-	9	1228	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	COPB2_ENST00000507777.1_Silent_p.G320G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	349					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCACAACTGCCCATATCCT	0.448																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1045-1047)ggC>ggT		coatomer protein complex, subunit beta 2 (beta prime)							202.0	176.0	185.0					3																	139092102		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139092102G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1047C>T	3.37:g.139092102G>A						COPB2_ENST00000507777.1_Silent_p.G320G	p.G349G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			9	1228	-			349					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.1047C>T	CCDS3108.1																																																																																				0.448	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		31	68	0	0	0	1	0	31	68				
VBP1	7411	broad.mit.edu	37	X	154456691	154456691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154456691G>A	ENST00000286428.5	+	4	428	c.311G>A	c.(310-312)aGa>aAa	p.R104K	VBP1_ENST00000535916.1_Missense_Mutation_p.R99K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	104					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGAGACCAGATTCTTGCTG	0.408																																						ENST00000286428.5																			0				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(310-312)aGa>aAa		von Hippel-Lindau binding protein 1							215.0	188.0	197.0					X																	154456691		2203	4300	6503	SO:0001583	missense	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154456691G>A	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.311G>A	X.37:g.154456691G>A	ENSP00000286428:p.Arg104Lys					VBP1_ENST00000535916.1_Missense_Mutation_p.R99K	p.R104K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN			4	428	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		104					B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Missense_Mutation	SNP	ENST00000286428.5	37	c.311G>A	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672852	0.47781	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	T;T	0.41400	1.0;1.0	5.05	4.13	0.48395	Prefoldin (1);Prefoldin subunit (1);	0.047676	0.85682	D	0.000000	T	0.31263	0.0791	L	0.28400	0.85	0.41448	D	0.987961	P	0.34462	0.454	B	0.34931	0.192	T	0.16012	-1.0417	10	0.39692	T	0.17	-13.875	12.2091	0.54369	0.0:0.0:0.8299:0.1701	.	104	P61758	PFD3_HUMAN	K	99;104	ENSP00000438694:R99K;ENSP00000286428:R104K	ENSP00000286428:R104K	R	+	2	0	VBP1	154109885	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.324000	0.79115	2.252000	0.74401	0.544000	0.68410	AGA		0.408	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1			92	139	0	0	0	1	0	92	139				
PRMT3	10196	broad.mit.edu	37	11	20417380	20417380	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20417380A>G	ENST00000331079.6	+	6	649	c.432A>G	c.(430-432)gtA>gtG	p.V144V	PRMT3_ENST00000437750.2_Silent_p.V82V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	144					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CGGTGTCAGTACCCTTCTCAT	0.373																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(430-432)gtA>gtG		protein arginine methyltransferase 3							115.0	110.0	112.0					11																	20417380		2203	4300	6503	SO:0001819	synonymous_variant	10196						zinc ion binding	g.chr11:20417380A>G	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.432A>G	11.37:g.20417380A>G						PRMT3_ENST00000437750.2_Silent_p.V82V	p.V144V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			6	649	+			144					B4DUC7	Silent	SNP	ENST00000331079.6	37	c.432A>G	CCDS7853.1																																																																																				0.373	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		29	45	0	0	0	1	0	29	45				
MAP1B	4131	broad.mit.edu	37	5	71496185	71496185	+	Missense_Mutation	SNP	G	G	A	rs370354996		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71496185G>A	ENST00000296755.7	+	5	7301	c.7003G>A	c.(7003-7005)Gcc>Acc	p.A2335T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2335	Mediates interaction with TMEM185A.				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCAAGACCGCCACTGCAGG	0.507																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(7003-7005)Gcc>Acc		microtubule-associated protein 1B		G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	90.0	93.0	92.0		7003	5.8	0.2	5		92	0,8596		0,0,4298	no	missense	MAP1B	NM_005909.3	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	2335/2469	71496185	1,12999	2202	4298	6500	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71496185G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.7003G>A	5.37:g.71496185G>A	ENSP00000296755:p.Ala2335Thr						p.A2335T	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	7301	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2335					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.7003G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001222	0.35320	2.27E-4	0.0	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000004	T	0.01421	0.0046	N	0.01209	-0.955	0.39070	D	0.9607	P;B	0.36412	0.552;0.349	B;B	0.22753	0.041;0.019	T	0.67699	-0.5603	10	0.24483	T	0.36	-20.8116	14.3205	0.66484	0.0704:0.0:0.9296:0.0	.	2209;2335	A2BDK6;P46821	.;MAP1B_HUMAN	T	2335	ENSP00000296755:A2335T	ENSP00000296755:A2335T	A	+	1	0	MAP1B	71531941	0.909000	0.30893	0.194000	0.23346	0.373000	0.29922	3.157000	0.50716	2.760000	0.94817	0.655000	0.94253	GCC		0.507	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		6	65	0	0	0	1	0	6	65				
RXFP4	339403	broad.mit.edu	37	1	155912066	155912066	+	Missense_Mutation	SNP	G	G	A	rs145457936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155912066G>A	ENST00000368318.3	+	1	587	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGTGTGCGCCTTTGCCTG	0.662																																						ENST00000368318.3																			0				endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13						c.(565-567)cGc>cAc		relaxin/insulin-like family peptide receptor 4		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	72.0	72.0		566	-1.8	0.0	1	dbSNP_134	72	0,8600		0,0,4300	no	missense	RXFP4	NM_181885.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	189/375	155912066	1,13005	2203	4300	6503	SO:0001583	missense	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155912066G>A	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.566G>A	1.37:g.155912066G>A	ENSP00000357301:p.Arg189His						p.R189H	NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN			1	587	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		189					B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	c.566G>A	CCDS1124.1	.	.	.	.	.	.	.	.	.	.	G	6.184	0.402045	0.11696	2.27E-4	0.0	ENSG00000173080	ENST00000368318	T	0.37411	1.2	4.67	-1.8	0.07907	GPCR, rhodopsin-like superfamily (1);	0.708561	0.13317	N	0.397048	T	0.09468	0.0233	N	0.25332	0.735	0.09310	N	1	B	0.28419	0.211	B	0.27608	0.081	T	0.27806	-1.0063	10	0.46703	T	0.11	-6.9765	9.9236	0.41478	0.6044:0.0:0.3956:0.0	.	189	Q8TDU9	RL3R2_HUMAN	H	189	ENSP00000357301:R189H	ENSP00000357301:R189H	R	+	2	0	RXFP4	154178690	0.000000	0.05858	0.028000	0.17463	0.019000	0.09904	-0.394000	0.07296	-0.253000	0.09514	0.563000	0.77884	CGC		0.662	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		28	50	0	0	0	1	0	28	50				
C1QTNF6	114904	broad.mit.edu	37	22	37578569	37578569	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37578569C>T	ENST00000337843.2	-	3	571	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E166K|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.E42K|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	147	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.E166K(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGACCCTTTCGAAGAGCAGC	0.622																																						ENST00000337843.2																			1	Substitution - Missense(1)	p.E166K(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(496-498)Gaa>Aaa		C1q and tumor necrosis factor related protein 6							60.0	62.0	61.0					22																	37578569		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37578569C>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.496G>A	22.37:g.37578569C>T	ENSP00000338812:p.Glu166Lys					C1QTNF6_ENST00000255836.6_Missense_Mutation_p.E42K|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E166K|RP1-151B14.6_ENST00000419128.1_RNA	p.E166K	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	571	-			147			C1q.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.496G>A	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380130	0.61845	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.21191	2.02;2.02;2.02	5.14	5.14	0.70334	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.052099	0.85682	D	0.000000	T	0.16557	0.0398	N	0.11927	0.2	0.47547	D	0.999458	P;P	0.42973	0.74;0.796	B;B	0.41135	0.348;0.294	T	0.07539	-1.0767	10	0.87932	D	0	.	18.6158	0.91302	0.0:1.0:0.0:0.0	.	166;147	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	K	166;166;42	ENSP00000380299:E166K;ENSP00000338812:E166K;ENSP00000255836:E42K	ENSP00000255836:E42K	E	-	1	0	C1QTNF6	35908515	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	7.818000	0.86416	2.393000	0.81446	0.555000	0.69702	GAA		0.622	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		18	36	0	0	0	1	0	18	36				
SNX9	51429	broad.mit.edu	37	6	158349675	158349675	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158349675A>G	ENST00000392185.3	+	12	1400	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	410	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGGCCATGGATGACGGCGTG	0.622																																						ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1228-1230)gAt>gGt		sorting nexin 9							65.0	46.0	52.0					6																	158349675		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158349675A>G	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1229A>G	6.37:g.158349675A>G	ENSP00000376024:p.Asp410Gly						p.D410G	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	12	1400	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	410			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1229A>G	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954410	0.73902	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.41065	1.01	5.02	3.86	0.44501	Sorting nexin protein, WASP-binding domain (1);	0.049855	0.85682	D	0.000000	T	0.53190	0.1781	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56842	-0.7912	10	0.87932	D	0	-28.3632	10.5321	0.44983	0.9233:0.0:0.0767:0.0	.	410	Q9Y5X1	SNX9_HUMAN	G	410;410;210	ENSP00000376024:D410G	ENSP00000252631:D210G	D	+	2	0	SNX9	158269663	1.000000	0.71417	0.594000	0.28785	0.734000	0.41952	8.820000	0.92003	-0.813000	0.04357	0.460000	0.39030	GAT		0.622	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			3	10	0	0	0	1	0	3	10				
PASK	23178	broad.mit.edu	37	2	242076463	242076463	+	Missense_Mutation	SNP	C	C	T	rs145134713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242076463C>T	ENST00000405260.1	-	7	1791	c.1093G>A	c.(1093-1095)Gcg>Acg	p.A365T	PASK_ENST00000234040.4_Missense_Mutation_p.A365T|PASK_ENST00000358649.4_Missense_Mutation_p.A365T|PASK_ENST00000544142.1_Missense_Mutation_p.A179T|PASK_ENST00000539818.1_Missense_Mutation_p.A149T|PASK_ENST00000403638.3_Missense_Mutation_p.A365T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	365	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGTGTCAGCGCGAAGCTGTGG	0.632																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1093-1095)Gcg>Acg		PAS domain containing serine/threonine kinase		C	THR/ALA	0,4406		0,0,2203	82.0	76.0	78.0		1093	5.2	0.9	2	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	PASK	NM_015148.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	365/1324	242076463	1,13005	2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242076463C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1093G>A	2.37:g.242076463C>T	ENSP00000384016:p.Ala365Thr					PASK_ENST00000405260.1_Missense_Mutation_p.A365T|PASK_ENST00000539818.1_Missense_Mutation_p.A149T|PASK_ENST00000544142.1_Missense_Mutation_p.A179T|PASK_ENST00000358649.4_Missense_Mutation_p.A365T|PASK_ENST00000234040.4_Missense_Mutation_p.A365T	p.A365T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	7	1184	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	365			PAS 2.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1093G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651341	0.67472	0.0	1.16E-4	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.19	5.19	0.71726	PAS (1);	0.000000	0.51477	D	0.000085	T	0.81226	0.4778	M	0.84326	2.69	0.28032	N	0.934094	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.75020	0.939;0.973;0.954;0.985;0.939	T	0.76772	-0.2836	10	0.87932	D	0	.	11.358	0.49627	0.181:0.819:0.0:0.0	.	330;179;365;365;365	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	T	365;179;365;365;149;365	ENSP00000234040:A365T;ENSP00000441374:A179T;ENSP00000384016:A365T;ENSP00000351475:A365T;ENSP00000443083:A149T;ENSP00000384438:A365T	ENSP00000234040:A365T	A	-	1	0	PASK	241725136	1.000000	0.71417	0.941000	0.38009	0.166000	0.22503	3.339000	0.52135	2.422000	0.82143	0.591000	0.81541	GCG		0.632	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		18	32	0	0	0	1	0	18	32				
TCF7L2	6934	broad.mit.edu	37	10	114710691	114710691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114710691C>A	ENST00000355995.4	+	1	683	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	TCF7L2_ENST00000369395.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000369397.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000352065.5_Missense_Mutation_p.S59Y|TCF7L2_ENST00000349937.2_Missense_Mutation_p.S59Y|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000538897.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000545257.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S59Y			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	59					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAAAACAGCTCCTCCGATTCC	0.502			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(175-177)tCc>tAc		transcription factor 7-like 2 (T-cell specific, HMG-box)							37.0	42.0	40.0					10																	114710691		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114710691C>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.176C>A	10.37:g.114710691C>A	ENSP00000348274:p.Ser59Tyr					TCF7L2_ENST00000369397.4_Missense_Mutation_p.S59Y|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000349937.2_Missense_Mutation_p.S59Y|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000538897.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000369395.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000355995.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000352065.5_Missense_Mutation_p.S59Y|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S59Y	p.S59Y			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	1	683	+		Breast(234;0.058)|Colorectal(252;0.0615)	59					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.176C>A		.	.	.	.	.	.	.	.	.	.	C	17.17	3.322214	0.60634	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	D;D;D;D;D;D;D;D;D	0.99353	-5.16;-5.16;-5.17;-5.19;-5.75;-5.77;-5.74;-5.16;-5.71	3.71	3.71	0.42584	.	0.099857	0.41097	U	0.000952	D	0.99171	0.9713	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.997;0.999;0.999;0.999;0.999;0.999;0.995;0.999;0.997;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.972;0.964;0.979;0.961;0.986;0.979;0.992;0.979;0.997;0.979;0.993;0.935;0.986	D	0.99274	1.0894	10	0.87932	D	0	-10.5333	10.5442	0.45050	0.1938:0.8062:0.0:0.0	.	59;59;59;59;59;59;59;59;59;59;59;59;59	C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;.;.;.;.;.;.;.;.;.;.	Y	59;59;59;59;59;59;59;59;59;59;59;6	ENSP00000348274:S59Y;ENSP00000440547:S59Y;ENSP00000444972:S59Y;ENSP00000446238:S59Y;ENSP00000347949:S59Y;ENSP00000446172:S59Y;ENSP00000443626:S59Y;ENSP00000358404:S59Y;ENSP00000344823:S59Y	ENSP00000345640:S6Y	S	+	2	0	TCF7L2	114700681	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.054000	0.64275	1.611000	0.50210	0.460000	0.39030	TCC		0.502	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		10	16	1	0	1.58986e-06	1	1.84011e-06	10	16				
ZNF470	388566	broad.mit.edu	37	19	57089032	57089032	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089032T>G	ENST00000330619.8	+	6	1921	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	ZNF470_ENST00000391709.3_Missense_Mutation_p.L412R|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACATAGGACTTATTCAGCAT	0.418																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1234-1236)cTt>cGt		zinc finger protein 470							84.0	86.0	85.0					19																	57089032		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089032T>G	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1235T>G	19.37:g.57089032T>G	ENSP00000333223:p.Leu412Arg					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L412R	p.L412R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1921	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	412					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1235T>G	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648617	0.47258	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.53640	0.61;0.61	4.26	4.26	0.50523	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70789	0.3264	M	0.89287	3.02	0.09310	N	1	D	0.71674	0.998	D	0.65010	0.931	T	0.64166	-0.6471	9	0.87932	D	0	.	12.4757	0.55811	0.0:0.0:0.0:1.0	.	412	Q6ECI4	ZN470_HUMAN	R	412	ENSP00000375590:L412R;ENSP00000333223:L412R	ENSP00000333223:L412R	L	+	2	0	ZNF470	61780844	0.947000	0.32204	0.978000	0.43139	0.775000	0.43874	7.229000	0.78088	1.794000	0.52575	0.528000	0.53228	CTT		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		11	98	0	0	0	1	0	11	98				
HAUS6	54801	broad.mit.edu	37	9	19050474	19050474	+	IGR	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19050474A>G	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.M273V	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACGTACGTGATGGTGGTCAT	0.512																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(817-819)Atg>Gtg		Ras-related GTP binding A							123.0	112.0	116.0					9																	19050474		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050474A>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050474A>G							p.M273V	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	1103	+			273					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.817A>G	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769244	0.49680	.	.	ENSG00000155876	ENST00000380527	T	0.68331	-0.32	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	M	0.93678	3.445	0.80722	D	1	B	0.33477	0.413	B	0.35931	0.214	T	0.79928	-0.1596	10	0.56958	D	0.05	-26.6389	12.9658	0.58483	1.0:0.0:0.0:0.0	.	273	Q7L523	RRAGA_HUMAN	V	273	ENSP00000369899:M273V	ENSP00000369899:M273V	M	+	1	0	RRAGA	19040474	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.500000	0.90498	2.236000	0.73375	0.533000	0.62120	ATG		0.512	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		12	85	0	0	0	1	0	12	85				
PPP1R3F	89801	broad.mit.edu	37	X	49143232	49143232	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143232G>T	ENST00000055335.6	+	4	2096	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A365S|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A348S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	694					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.A694P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGAGCCAGCCTCTCCCGT	0.617																																						ENST00000055335.6																			1	Substitution - Missense(1)	p.A694P(1)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(2080-2082)Gcc>Tcc		protein phosphatase 1, regulatory subunit 3F							46.0	28.0	34.0					X																	49143232		2203	4299	6502	SO:0001583	missense	89801					integral to membrane		g.chrX:49143232G>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2080G>T	X.37:g.49143232G>T	ENSP00000055335:p.Ala694Ser					PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A365S|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A348S	p.A694S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	2096	+	Ovarian(276;0.236)		694					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.2080G>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179517	0.06380	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.59364	0.69;0.7;0.27;0.69;0.69	4.84	-0.112	0.13572	.	1.031340	0.07717	N	0.942924	T	0.38585	0.1046	N	0.24115	0.695	0.09310	N	1	B;B;B	0.28291	0.206;0.206;0.067	B;B;B	0.25291	0.059;0.059;0.018	T	0.28681	-1.0036	10	0.51188	T	0.08	0.9026	4.0116	0.09624	0.4473:0.1889:0.3638:0.0	.	365;379;694	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	S	348;365;694;348;348	ENSP00000420687:A348S;ENSP00000415548:A365S;ENSP00000055335:A694S;ENSP00000417535:A348S;ENSP00000365359:A348S	ENSP00000055335:A694S	A	+	1	0	PPP1R3F	49030176	0.000000	0.05858	0.001000	0.08648	0.175000	0.22909	-0.727000	0.04931	-0.068000	0.12953	0.513000	0.50165	GCC		0.617	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		6	6	1	0	0.00116845	1	0.00124821	6	6				
CCDC183	84960	broad.mit.edu	37	9	139697115	139697115	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139697115G>T	ENST00000338005.6	+	6	578		c.e6-1		KIAA1984_ENST00000371682.3_Splice_Site|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATTCAACACAGGTGCTGGCAG	0.537																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e6-1		KIAA1984							108.0	115.0	113.0					9																	139697115		1971	4162	6133	SO:0001630	splice_region_variant	84960							g.chr9:139697115G>T																												ENST00000338005.6:c.544-1G>T	9.37:g.139697115G>T						KIAA1984_ENST00000371682.3_Splice_Site		NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	6	578	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)						B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Splice_Site	SNP	ENST00000338005.6	37		CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	9.860	1.196067	0.22037	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7823	0.63089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1984	138816936	1.000000	0.71417	0.989000	0.46669	0.050000	0.14768	5.181000	0.65054	2.384000	0.81235	0.561000	0.74099	.		0.537	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		Intron	11	125	1	0	1.58986e-06	1	1.84011e-06	11	125				
RRAGB	10325	broad.mit.edu	37	X	55757807	55757807	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55757807T>G	ENST00000262850.7	+	6	831	c.388T>G	c.(388-390)Ttc>Gtc	p.F130V	RRAGB_ENST00000374941.4_Missense_Mutation_p.F102V	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GCAAGACACCTTCATGGAAAA	0.373																																						ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(304-306)Ttc>Gtc		Ras-related GTP binding B							37.0	33.0	34.0					X																	55757807		2203	4299	6502	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55757807T>G	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.388T>G	X.37:g.55757807T>G	ENSP00000262850:p.Phe130Val					RRAGB_ENST00000262850.7_Missense_Mutation_p.F130V	p.F102V	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			5	893	+			130						Missense_Mutation	SNP	ENST00000262850.7	37	c.304T>G	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.180943	0.78677	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.69040	-0.37;-0.25	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.977	D	0.87177	0.2225	10	0.62326	D	0.03	-7.3709	11.4804	0.50322	0.0:0.0:0.0:1.0	.	102;130	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	V	102;64;130	ENSP00000364077:F102V;ENSP00000410630:F64V	ENSP00000262850:F130V	F	+	1	0	RRAGB	55774532	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.495000	0.81514	1.679000	0.50963	0.417000	0.27973	TTC		0.373	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		5	25	0	0	0	1	0	5	25				
SLC25A17	10478	broad.mit.edu	37	22	41175130	41175130	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41175130C>T	ENST00000435456.2	-	5	468		c.e5-1		SLC25A17_ENST00000542412.1_Splice_Site|SLC25A17_ENST00000402844.3_Missense_Mutation_p.G30R|SLC25A17_ENST00000491545.1_Splice_Site|SLC25A17_ENST00000544408.1_Splice_Site	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17						ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTAACCACTCCTTTAACAAGA	0.378																																						ENST00000402844.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(88-90)Gga>Aga		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							84.0	75.0	78.0					22																	41175130		2203	4300	6503	SO:0001630	splice_region_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41175130C>T	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.335-1G>A	22.37:g.41175130C>T						SLC25A17_ENST00000435456.2_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site|SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000542412.1_Splice_Site	p.G30R			O43808	PM34_HUMAN			1	1068	-			112					A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	c.88G>A	CCDS14005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.453350|1.453350	0.26161|0.26161	.|.	.|.	ENSG00000100372|ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000542412|ENST00000402844	.|D	.|0.83992	.|-1.79	6.08|6.08	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	.|D	.|0.88607	.|0.6482	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.88069	.|0.2799	.|5	.|.	.|.	.|.	.|.	17.423|17.423	0.87519|0.87519	0.0:0.8754:0.1246:0.0|0.0:0.8754:0.1246:0.0	.|.	.|.	.|.	.|.	.|R	-1|30	.|ENSP00000385303:G30R	.|.	.|G	-|-	.|1	.|0	SLC25A17|SLC25A17	39505076|39505076	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.021000|0.021000	0.10359|0.10359	7.818000|7.818000	0.86416|0.86416	1.569000|1.569000	0.49696|0.49696	-0.175000|-0.175000	0.13238|0.13238	.|GGA		0.378	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	Intron	4	32	0	0	0	1	0	4	32				
BAG6	7917	broad.mit.edu	37	6	31611887	31611887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31611887G>T	ENST00000375964.6	-	12	1863	c.1550C>A	c.(1549-1551)cCt>cAt	p.P517H	BAG6_ENST00000439687.2_Missense_Mutation_p.P511H|BAG6_ENST00000375976.4_Missense_Mutation_p.P511H|BAG6_ENST00000211379.5_Missense_Mutation_p.P511H|BAG6_ENST00000404765.2_Missense_Mutation_p.P547H|BAG6_ENST00000362049.6_Missense_Mutation_p.P511H|BAG6_ENST00000470875.1_5'UTR	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	517	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGGCCCTCCAGGATGGGAAGG	0.637																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1639-1641)cCt>cAt		BCL2-associated athanogene 6							41.0	45.0	44.0					6																	31611887		2203	4300	6503	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31611887G>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1550C>A	6.37:g.31611887G>T	ENSP00000365131:p.Pro517His					BAG6_ENST00000375976.4_Missense_Mutation_p.P511H|BAG6_ENST00000211379.5_Missense_Mutation_p.P511H|BAG6_ENST00000439687.2_Missense_Mutation_p.P511H|BAG6_ENST00000375964.6_Missense_Mutation_p.P517H|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Missense_Mutation_p.P511H	p.P547H			P46379	BAG6_HUMAN			13	1929	-			517			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.1640C>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	g	19.17	3.775613	0.70107	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000438149;ENST00000436214	T;T;T;T;T;T;T;T	0.58060	1.12;1.27;1.12;1.34;0.36;1.22;0.74;0.64	4.99	4.99	0.66335	.	0.309413	0.31246	N	0.007990	T	0.47469	0.1447	N	0.24115	0.695	0.38715	D	0.953313	D;D;D;D	0.76494	0.998;0.999;0.997;0.999	D;D;D;D	0.83275	0.953;0.996;0.985;0.99	T	0.43048	-0.9415	10	0.23891	T	0.37	.	15.2664	0.73666	0.0:0.0:1.0:0.0	.	511;511;517;511	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	H	511;517;511;547;511;511;547;105;125	ENSP00000365143:P511H;ENSP00000365131:P517H;ENSP00000211379:P511H;ENSP00000384494:P547H;ENSP00000402856:P511H;ENSP00000354875:P511H;ENSP00000397978:P547H;ENSP00000410280:P105H	ENSP00000211379:P511H	P	-	2	0	BAG6	31719866	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.087000	0.76893	2.317000	0.78254	0.550000	0.68814	CCT		0.637	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		12	22	1	0	4.36969e-10	1	5.35656e-10	12	22				
ARHGAP17	55114	broad.mit.edu	37	16	24942135	24942135	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24942135T>C	ENST00000289968.6	-	19	2554	c.2485A>G	c.(2485-2487)Aca>Gca	p.T829A	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T751A|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	829					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTTGGTGCTGTGTTGGTGAGG	0.527																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2485-2487)Aca>Gca		Rho GTPase activating protein 17							193.0	206.0	202.0					16																	24942135		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942135T>C	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2485A>G	16.37:g.24942135T>C	ENSP00000289968:p.Thr829Ala					ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T751A|ARHGAP17_ENST00000441763.2_3'UTR	p.T829A	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2554	-			829					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.2485A>G	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.354843	0.00217	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.19394	2.15;2.26	5.2	-7.84	0.01196	.	1.069190	0.07400	N	0.890560	T	0.03959	0.0111	N	0.00926	-1.1	0.27017	N	0.964541	B;B;B;B;B	0.20261	0.0;0.0;0.043;0.01;0.0	B;B;B;B;B	0.15870	0.0;0.0;0.005;0.014;0.001	T	0.28839	-1.0031	10	0.06099	T	0.92	.	4.6968	0.12808	0.0962:0.145:0.1164:0.6424	.	751;829;362;662;390	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	A	829;751;829	ENSP00000289968:T829A;ENSP00000303130:T751A	ENSP00000289968:T829A	T	-	1	0	ARHGAP17	24849636	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	0.181000	0.16880	-1.657000	0.01492	-1.162000	0.01777	ACA		0.527	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		30	295	0	0	0	1	0	30	295				
PPP2R5D	5528	broad.mit.edu	37	6	42975016	42975016	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975016C>T	ENST00000485511.1	+	5	784	c.605C>T	c.(604-606)aCc>aTc	p.T202I	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.T96I|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.T170I|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.T194I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	202					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GATGAGCCCACCCTGGAAGCT	0.612																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(604-606)aCc>aTc		protein phosphatase 2, regulatory subunit B', delta							104.0	105.0	104.0					6																	42975016		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975016C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.605C>T	6.37:g.42975016C>T	ENSP00000417963:p.Thr202Ile					PPP2R5D_ENST00000394110.3_Missense_Mutation_p.T170I|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.T194I|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.T96I	p.T202I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		5	784	+			202					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.605C>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950453	0.73787	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	T;T;T;T	0.48201	0.83;0.82;0.83;0.85	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.52823	1.66	0.80722	D	1	P;P;P;P	0.48998	0.453;0.918;0.874;0.848	B;B;P;B	0.51266	0.079;0.291;0.664;0.126	T	0.51710	-0.8671	10	0.66056	D	0.02	-29.7266	19.9197	0.97082	0.0:1.0:0.0:0.0	.	96;202;202;170	Q14738-3;F5GYS1;Q14738;Q14738-2	.;.;2A5D_HUMAN;.	I	202;170;194;202;96	ENSP00000417963:T202I;ENSP00000377669:T170I;ENSP00000420550:T194I;ENSP00000420674:T96I	ENSP00000377669:T170I	T	+	2	0	PPP2R5D	43082994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.060000	0.71141	2.702000	0.92279	0.655000	0.94253	ACC		0.612	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		36	65	0	0	0	1	0	36	65				
SLC51A	200931	broad.mit.edu	37	3	195959363	195959363	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195959363C>T	ENST00000296327.5	+	8	1063	c.854C>T	c.(853-855)tCg>tTg	p.S285L	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	285					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ATTGCTTGTTCGCCTCCCTAT	0.552																																						ENST00000296327.5																			0											c.(853-855)tCg>tTg		solute carrier family 51, alpha subunit							168.0	133.0	145.0					3																	195959363		2203	4300	6503	SO:0001583	missense	200931							g.chr3:195959363C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.854C>T	3.37:g.195959363C>T	ENSP00000296327:p.Ser285Leu					PCYT1A_ENST00000419333.1_Intron	p.S285L	NM_152672.5	NP_689885.4					8	1063	+								Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	c.854C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582487	0.65992	.	.	ENSG00000163959	ENST00000296327	T	0.44881	0.91	6.03	6.03	0.97812	.	0.000000	0.41605	D	0.000844	T	0.43942	0.1270	M	0.78916	2.43	0.80722	D	1	P	0.49090	0.919	B	0.41917	0.37	T	0.37174	-0.9717	10	0.15952	T	0.53	.	12.7996	0.57578	0.0:0.9262:0.0:0.0738	.	285	Q86UW1	OSTA_HUMAN	L	285	ENSP00000296327:S285L	ENSP00000296327:S285L	S	+	2	0	AC069257.9	197443760	0.981000	0.34729	0.952000	0.39060	0.862000	0.49288	3.828000	0.55753	2.861000	0.98227	0.655000	0.94253	TCG		0.552	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		22	30	0	0	0	1	0	22	30				
ADH6	130	broad.mit.edu	37	4	100129858	100129858	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100129858G>T	ENST00000237653.7	-	6	1179	c.795C>A	c.(793-795)ttC>ttA	p.F265L	ADH6_ENST00000407820.2_Missense_Mutation_p.F56L|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.F265L|ADH6_ENST00000394899.2_Missense_Mutation_p.F265L|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	265					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CCTCAAAGCAGAAGTCTATAC	0.398																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(793-795)ttC>ttA		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						180.0	191.0	187.0					4																	100129858		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100129858G>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.795C>A	4.37:g.100129858G>T	ENSP00000237653:p.Phe265Leu					ADH6_ENST00000394899.2_Missense_Mutation_p.F265L|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.F56L|ADH6_ENST00000237653.7_Missense_Mutation_p.F265L|ADH6_ENST00000504257.1_5'UTR	p.F265L			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	877	-			265					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.795C>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161180	0.57368	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.06449	3.8;3.3;3.3;3.3;3.3	4.71	0.73	0.18271	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.273618	0.41605	N	0.000842	T	0.17280	0.0415	M	0.64567	1.98	0.26444	N	0.97573	D;D;D;D	0.89917	0.99;0.991;0.958;1.0	P;P;P;D	0.91635	0.761;0.885;0.548;0.999	T	0.01541	-1.1329	10	0.87932	D	0	-30.8833	8.4142	0.32662	0.6399:0.0:0.3601:0.0	.	142;265;265;265	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	L	265;265;56;265;201	ENSP00000378358:F265L;ENSP00000378359:F265L;ENSP00000384997:F56L;ENSP00000237653:F265L;ENSP00000426187:F201L	ENSP00000237653:F265L	F	-	3	2	ADH6	100348881	1.000000	0.71417	0.056000	0.19401	0.007000	0.05969	1.992000	0.40737	0.264000	0.21851	-0.455000	0.05494	TTC		0.398	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		106	167	1	0	1.37401e-58	1	1.85944e-58	106	167				
GCNT2	2651	broad.mit.edu	37	6	10556805	10556805	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10556805C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.S50F			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTTTGCACATCTTTTATCAAT	0.393																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(148-150)tCt>tTt		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							105.0	104.0	104.0					6																	10556805		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556805C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26736C>T	6.37:g.10556805C>T						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron	p.S50F	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	566	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	51						Missense_Mutation	SNP	ENST00000379597.3	37	c.149C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	0.771	-0.765782	0.02996	.	.	ENSG00000111846	ENST00000316170	T	0.10573	2.86	5.1	3.26	0.37387	.	.	.	.	.	T	0.04452	0.0122	L	0.56769	1.78	0.31768	N	0.632443	B	0.19445	0.036	B	0.19391	0.025	T	0.24799	-1.0150	9	0.25106	T	0.35	.	10.0248	0.42066	0.0:0.7834:0.14:0.0767	.	50	Q06430	GNT2B_HUMAN	F	50	ENSP00000314844:S50F	ENSP00000314844:S50F	S	+	2	0	GCNT2	10664791	0.104000	0.21937	0.003000	0.11579	0.370000	0.29829	2.775000	0.47702	1.245000	0.43885	0.655000	0.94253	TCT		0.393	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		32	86	0	0	0	1	0	32	86				
CETP	1071	broad.mit.edu	37	16	57012048	57012048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57012048C>T	ENST00000566128.1	+	11	1099	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	CETP_ENST00000200676.3_Missense_Mutation_p.L343F|CETP_ENST00000379780.2_Missense_Mutation_p.L283F					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CGTCCACTGCCTCAAGATGCC	0.582																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(1027-1029)Ctc>Ttc		cholesteryl ester transfer protein, plasma							144.0	125.0	131.0					16																	57012048		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57012048C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.832C>T	16.37:g.57012048C>T	ENSP00000456276:p.Leu278Phe					CETP_ENST00000566128.1_Missense_Mutation_p.L278F|CETP_ENST00000379780.2_Missense_Mutation_p.L283F	p.L343F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			11	1157	+			343						Missense_Mutation	SNP	ENST00000566128.1	37	c.1027C>T		.	.	.	.	.	.	.	.	.	.	C	14.74	2.624772	0.46840	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.10573	2.86;2.86	4.12	0.96	0.19631	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.361816	0.21964	U	0.066560	T	0.15132	0.0365	L	0.29908	0.895	0.09310	N	1	D;P	0.71674	0.998;0.95	D;P	0.74023	0.982;0.688	T	0.05750	-1.0866	10	0.51188	T	0.08	0.0175	4.5489	0.12098	0.1738:0.63:0.0:0.1962	.	283;343	P11597-2;P11597	.;CETP_HUMAN	F	343;283	ENSP00000200676:L343F;ENSP00000369106:L283F	ENSP00000200676:L343F	L	+	1	0	CETP	55569549	0.432000	0.25554	0.140000	0.22221	0.067000	0.16453	0.669000	0.25142	0.387000	0.25024	-0.319000	0.08680	CTC		0.582	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		34	65	0	0	0	1	0	34	65				
NEO1	4756	broad.mit.edu	37	15	73567057	73567057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73567057A>G	ENST00000339362.5	+	22	3632	c.3185A>G	c.(3184-3186)aAt>aGt	p.N1062S	NEO1_ENST00000560262.1_Missense_Mutation_p.N1062S|NEO1_ENST00000558964.1_Intron|NEO1_ENST00000261908.6_Missense_Mutation_p.N1062S			Q92859	NEO1_HUMAN	neogenin 1	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAAATGCCTAATGATCAAGGT	0.378																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3184-3186)aAt>aGt		neogenin 1							179.0	168.0	172.0					15																	73567057		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73567057A>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3185A>G	15.37:g.73567057A>G	ENSP00000341198:p.Asn1062Ser					NEO1_ENST00000558964.1_Intron|NEO1_ENST00000560262.1_Missense_Mutation_p.N1062S|NEO1_ENST00000261908.6_Missense_Mutation_p.N1062S	p.N1062S			Q92859	NEO1_HUMAN			22	3632	+			1062					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3185A>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300613	0.60195	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.55234	0.53;0.53	5.95	5.95	0.96441	.	0.201913	0.50627	D	0.000115	T	0.41050	0.1142	N	0.24115	0.695	0.80722	D	1	B;P	0.41313	0.067;0.745	B;B	0.39419	0.009;0.299	T	0.23726	-1.0180	10	0.22706	T	0.39	-24.4395	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1062;1062	B7ZKM9;Q92859	.;NEO1_HUMAN	S	1062	ENSP00000341198:N1062S;ENSP00000261908:N1062S	ENSP00000261908:N1062S	N	+	2	0	NEO1	71354110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.279000	0.76181	0.533000	0.62120	AAT		0.378	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		13	129	0	0	0	1	0	13	129				
SYNE2	23224	broad.mit.edu	37	14	64608684	64608684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64608684C>T	ENST00000344113.4	+	82	15396	c.15184C>T	c.(15184-15186)Cgt>Tgt	p.R5062C	SYNE2_ENST00000358025.3_Missense_Mutation_p.R5062C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R4979C|SYNE2_ENST00000357395.3_Missense_Mutation_p.R1447C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1447C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1696C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5062					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTGCCGTCTCGTAAAGCAAT	0.373																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4339-4341)Cgt>Tgt		spectrin repeat containing, nuclear envelope 2							67.0	62.0	64.0					14																	64608684		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64608684C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15184C>T	14.37:g.64608684C>T	ENSP00000341781:p.Arg5062Cys					SYNE2_ENST00000555002.1_Missense_Mutation_p.R1696C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1447C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5062C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R4979C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5062C	p.R1447C			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	83	15483	+			5062					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4339C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704958	0.88924	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59772	0.54;3.78;0.54;0.24;3.83;3.78	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000052	T	0.77184	0.4093	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.966;0.982;0.978	T	0.77443	-0.2586	10	0.72032	D	0.01	.	20.3422	0.98769	0.0:1.0:0.0:0.0	.	1447;4979;5062;5062	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5062;1447;5062;4979;4985;1696;1447	ENSP00000350719:R5062C;ENSP00000349969:R1447C;ENSP00000341781:R5062C;ENSP00000452570:R4979C;ENSP00000450831:R1696C;ENSP00000378249:R1447C	ENSP00000261678:R4985C	R	+	1	0	SYNE2	63678437	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.585000	0.82584	2.810000	0.96702	0.655000	0.94253	CGT		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		9	22	0	0	0	1	0	9	22				
ABCA7	10347	broad.mit.edu	37	19	1043735	1043735	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1043735C>A	ENST00000263094.6	+	10	1173	c.942C>A	c.(940-942)acC>acA	p.T314T	ABCA7_ENST00000435683.2_Silent_p.T176T|ABCA7_ENST00000433129.1_Silent_p.T314T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	314					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACCGGACCTTCGAGGAGC	0.632																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(940-942)acC>acA		ATP-binding cassette, sub-family A (ABC1), member 7							120.0	115.0	117.0					19																	1043735		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043735C>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.942C>A	19.37:g.1043735C>A						ABCA7_ENST00000433129.1_Silent_p.T314T|ABCA7_ENST00000435683.2_Silent_p.T176T	p.T314T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1173	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	314					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.942C>A	CCDS12055.1																																																																																				0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		53	82	1	0	1.67886e-27	1	2.24113e-27	53	82				
KBTBD7	84078	broad.mit.edu	37	13	41767128	41767128	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41767128C>T	ENST00000379483.3	-	1	1574	c.1266G>A	c.(1264-1266)ttG>ttA	p.L422L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	422										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CACGACACAGCAAGCGATCTG	0.488																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1264-1266)ttG>ttA		kelch repeat and BTB (POZ) domain containing 7							122.0	110.0	114.0					13																	41767128		2203	4298	6501	SO:0001819	synonymous_variant	84078						protein binding	g.chr13:41767128C>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1266G>A	13.37:g.41767128C>T							p.L422L	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1574	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	422					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	ENST00000379483.3	37	c.1266G>A	CCDS9377.1																																																																																				0.488	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		7	58	0	0	0	1	0	7	58				
CNOT2	4848	broad.mit.edu	37	12	70726546	70726546	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70726546G>T	ENST00000418359.3	+	8	1020		c.e8-1		CNOT2_ENST00000551483.1_5'Flank|CNOT2_ENST00000229195.3_Splice_Site|CNOT2_ENST00000548230.1_Splice_Site	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TATGTACCCAGTATGTCTGGA	0.318																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.e7-1		CCR4-NOT transcription complex, subunit 2							116.0	121.0	119.0					12																	70726546		2202	4300	6502	SO:0001630	splice_region_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70726546G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.570-1G>T	12.37:g.70726546G>T						CNOT2_ENST00000418359.3_Splice_Site|CNOT2_ENST00000548230.1_Splice_Site		NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		7	1148	+	Renal(347;0.236)							Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Splice_Site	SNP	ENST00000418359.3	37		CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221757	0.79464	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000551043;ENST00000551873	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9739	0.89121	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT2	69012813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.678000	0.91216	0.585000	0.79938	.		0.318	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		Intron	35	65	1	0	2.20474e-14	1	2.81294e-14	35	65				
B3GALT2	8707	broad.mit.edu	37	1	193149591	193149591	+	Nonsense_Mutation	SNP	G	G	A	rs201042990		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193149591G>A	ENST00000367434.4	-	2	1857	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	368					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TAAGAGACTCGCCAGTGATTG	0.423																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(1102-1104)Cga>Tga		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							98.0	99.0	99.0					1																	193149591		2203	4300	6503	SO:0001587	stop_gained	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193149591G>A	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1102C>T	1.37:g.193149591G>A	ENSP00000356404:p.Arg368*					CDC73_ENST00000367435.3_Intron	p.R368*	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN			2	1857	-			368					B2RAB1|Q9BZQ9	Nonsense_Mutation	SNP	ENST00000367434.4	37	c.1102C>T	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	42	9.550625	0.99202	.	.	ENSG00000162630	ENST00000367434	.	.	.	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.072	0.59068	0.0:0.0:0.7078:0.2921	.	.	.	.	X	368	.	ENSP00000356404:R368X	R	-	1	2	B3GALT2	191416214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.735000	0.55044	1.201000	0.43203	0.555000	0.69702	CGA		0.423	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		20	69	0	0	0	1	0	20	69				
SLC9A4	389015	broad.mit.edu	37	2	103119909	103119909	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103119909C>T	ENST00000295269.4	+	3	1180	c.723C>T	c.(721-723)gtC>gtT	p.V241V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	241					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTGCCTAGGTCTTATACAATA	0.358																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(721-723)gtC>gtT		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							125.0	115.0	118.0					2																	103119909		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103119909C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.723C>T	2.37:g.103119909C>T							p.V241V	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			3	1180	+			241					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.723C>T	CCDS33264.1																																																																																				0.358	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		5	4	0	0	0	1	0	5	4				
CTTNBP2	83992	broad.mit.edu	37	7	117432640	117432640	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117432640T>A	ENST00000160373.3	-	4	701	c.610A>T	c.(610-612)Aaa>Taa	p.K204*	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	204					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCGTCTTTTTCTTTTCCTCT	0.463																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(610-612)Aaa>Taa		cortactin binding protein 2							144.0	136.0	138.0					7																	117432640		2203	4300	6503	SO:0001587	stop_gained	83992							g.chr7:117432640T>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.610A>T	7.37:g.117432640T>A	ENSP00000160373:p.Lys204*						p.K204*	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	701	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		204					O43389|Q7LG11|Q9C0A5	Nonsense_Mutation	SNP	ENST00000160373.3	37	c.610A>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779234	0.49891	.	.	ENSG00000077063	ENST00000160373	.	.	.	5.77	4.61	0.57282	.	0.237635	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8519	12.069	0.53605	0.0:0.0675:0.0:0.9325	.	.	.	.	X	204	.	ENSP00000160373:K204X	K	-	1	0	CTTNBP2	117219876	1.000000	0.71417	0.674000	0.29902	0.681000	0.39784	4.286000	0.58995	1.113000	0.41760	0.528000	0.53228	AAA		0.463	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		63	58	0	0	0	1	0	63	58				
CNGA3	1261	broad.mit.edu	37	2	99013275	99013275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99013275G>A	ENST00000272602.2	+	7	1681	c.1642G>A	c.(1642-1644)Ggg>Agg	p.G548R	CNGA3_ENST00000436404.2_Missense_Mutation_p.G530R|CNGA3_ENST00000393504.1_Missense_Mutation_p.G548R|CNGA3_ENST00000409937.1_Missense_Mutation_p.G552R			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	548			G -> R (in ACHM2). {ECO:0000269|PubMed:14757870}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAGCTACTTCGGGGAGATCAG	0.562																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49	GRCh37	CM045044	CNGA3	M		c.(1642-1644)Ggg>Agg		cyclic nucleotide gated channel alpha 3							137.0	133.0	135.0					2																	99013275		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013275G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1642G>A	2.37:g.99013275G>A	ENSP00000272602:p.Gly548Arg					CNGA3_ENST00000436404.2_Missense_Mutation_p.G530R|CNGA3_ENST00000272602.2_Missense_Mutation_p.G548R|CNGA3_ENST00000409937.1_Missense_Mutation_p.G552R	p.G548R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2059	+			548		G -> R (in ACHM2).			E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1642G>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424379	0.83667	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.99671	-6.35;-6.35;-6.35;-6.35	5.42	5.42	0.78866	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.99764	4.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96464	0.9343	10	0.87932	D	0	.	18.154	0.89686	0.0:0.0:1.0:0.0	.	552;530;548	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	R	548;530;548;552	ENSP00000377140:G548R;ENSP00000410070:G530R;ENSP00000272602:G548R;ENSP00000386761:G552R	ENSP00000272602:G548R	G	+	1	0	CNGA3	98379707	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.263000	0.95617	2.826000	0.97356	0.563000	0.77884	GGG		0.562	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		9	133	0	0	0	1	0	9	133				
OR5D13	390142	broad.mit.edu	37	11	55541585	55541585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541585C>T	ENST00000361760.1	+	1	672	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTTATTTTCACTACCATTA	0.438																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(670-672)ttC>ttT		olfactory receptor, family 5, subfamily D, member 13							131.0	122.0	125.0					11																	55541585		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541585C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.672C>T	11.37:g.55541585C>T							p.F224F	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	672	+		all_epithelial(135;0.196)	224					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.672C>T	CCDS31507.1																																																																																				0.438	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		20	67	0	0	0	1	0	20	67				
PCDHGC3	5098	broad.mit.edu	37	5	140856640	140856640	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140856640G>T	ENST00000308177.3	+	1	1061	c.957G>T	c.(955-957)gaG>gaT	p.E319D	PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	319	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCATGAGATTTACATCC	0.547																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(955-957)gaG>gaT									84.0	78.0	80.0					5																	140856640		2203	4300	6503	SO:0001583	missense	0							g.chr5:140856640G>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.957G>T	5.37:g.140856640G>T	ENSP00000312070:p.Glu319Asp					PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.E319D	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1061	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.957G>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011561	0.54468	.	.	ENSG00000240184	ENST00000308177	T	0.55413	0.52	5.49	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67998	0.2953	M	0.67625	2.065	0.22330	N	0.9992	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.971	T	0.56944	-0.7895	9	0.46703	T	0.11	.	11.1109	0.48232	0.1409:0.0:0.8591:0.0	.	319;319	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	D	319	ENSP00000312070:E319D	ENSP00000312070:E319D	E	+	3	2	PCDHGC3	140836824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.329000	0.43876	2.865000	0.98341	0.655000	0.94253	GAG		0.547	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		18	30	1	0	2.94398e-08	1	3.51695e-08	18	30				
STIL	6491	broad.mit.edu	37	1	47725975	47725975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47725975G>T	ENST00000360380.3	-	17	3426	c.3063C>A	c.(3061-3063)aaC>aaA	p.N1021K	STIL_ENST00000396221.2_Missense_Mutation_p.N1004K|STIL_ENST00000243182.6_Missense_Mutation_p.N1021K|STIL_ENST00000371877.3_Missense_Mutation_p.N1022K|STIL_ENST00000337817.5_Missense_Mutation_p.N1021K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1021					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CGTGATCCACGTTATGTGCAT	0.308																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(3061-3063)aaC>aaA		SCL/TAL1 interrupting locus							103.0	100.0	101.0					1																	47725975		2203	4299	6502	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47725975G>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3063C>A	1.37:g.47725975G>T	ENSP00000353544:p.Asn1021Lys					STIL_ENST00000371877.3_Missense_Mutation_p.N1022K|STIL_ENST00000243182.6_Missense_Mutation_p.N1021K|STIL_ENST00000337817.5_Missense_Mutation_p.N1021K|STIL_ENST00000396221.2_Missense_Mutation_p.N1004K	p.N1021K			Q15468	STIL_HUMAN			17	3426	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1021					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3063C>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	0.420	-0.908563	0.02434	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.14640	2.52;2.52;2.52;2.49;2.52	5.93	1.03	0.20045	.	0.371808	0.33753	N	0.004595	T	0.02083	0.0065	N	0.00538	-1.39	0.22226	N	0.999279	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38156	-0.9674	10	0.02654	T	1	-16.1434	1.0482	0.01574	0.2425:0.1374:0.1302:0.4899	.	1004;1004;1022;1021	E9PSF2;B7ZLW5;Q15468-2;Q15468	.;.;.;STIL_HUMAN	K	1021;1021;1022;1004;1021	ENSP00000353544:N1021K;ENSP00000337367:N1021K;ENSP00000360944:N1022K;ENSP00000379523:N1004K;ENSP00000243182:N1021K	ENSP00000243182:N1021K	N	-	3	2	STIL	47498562	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	0.484000	0.22308	0.131000	0.18576	-1.072000	0.02254	AAC		0.308	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		22	43	1	0	9.95505e-16	1	1.27953e-15	22	43				
C2orf71	388939	broad.mit.edu	37	2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29287763G>A	ENST00000331664.5	-	2	3838	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1280					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(3838-3840)gCg>gTg		chromosome 2 open reading frame 71							31.0	38.0	35.0					2																	29287763		2063	4201	6264	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29287763G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3839C>T	2.37:g.29287763G>A	ENSP00000332809:p.Ala1280Val						p.A1280V	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			2	3838	-			1280						Missense_Mutation	SNP	ENST00000331664.5	37	c.3839C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108231	0.20714	.	.	ENSG00000179270	ENST00000331664	T	0.19250	2.16	4.08	1.18	0.20946	.	1.617280	0.03453	N	0.210964	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.26121	-1.0112	10	0.45353	T	0.12	5.4767	4.5814	0.12260	0.1886:0.0:0.6379:0.1735	.	1280	A6NGG8	CB071_HUMAN	V	1280	ENSP00000332809:A1280V	ENSP00000332809:A1280V	A	-	2	0	C2orf71	29141267	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.785000	0.26830	0.109000	0.17891	-0.119000	0.15052	GCG		0.657	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		10	17	0	0	0	1	0	10	17				
MIOS	54468	broad.mit.edu	37	7	7612975	7612975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7612975G>T	ENST00000340080.4	+	4	1290	c.869G>T	c.(868-870)aGt>aTt	p.S290I	MIOS_ENST00000405785.1_Missense_Mutation_p.S290I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	290						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAGGGATAGTAATATTATT	0.408																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(868-870)aGt>aTt		missing oocyte, meiosis regulator, homolog (Drosophila)							91.0	87.0	88.0					7																	7612975		1886	4101	5987	SO:0001583	missense	54468							g.chr7:7612975G>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.869G>T	7.37:g.7612975G>T	ENSP00000339881:p.Ser290Ile					MIOS_ENST00000405785.1_Missense_Mutation_p.S290I	p.S290I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			4	1290	+			290					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.869G>T	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792821	0.70452	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.67865	-0.29;-0.29	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80933	-0.1161	10	0.52906	T	0.07	-23.6506	19.9793	0.97320	0.0:0.0:1.0:0.0	.	290	Q9NXC5	MIO_HUMAN	I	290	ENSP00000339881:S290I;ENSP00000384088:S290I	ENSP00000339881:S290I	S	+	2	0	MIOS	7579500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.793000	0.96121	0.650000	0.86243	AGT		0.408	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		8	139	1	0	1.06961e-07	1	1.26574e-07	8	139				
MAGEC2	51438	broad.mit.edu	37	X	141291666	141291666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:141291666C>A	ENST00000247452.3	-	3	455	c.108G>T	c.(106-108)gaG>gaT	p.E36D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	36	Poly-Glu.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTCCTCCTCTTCCTCAT	0.527										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(106-108)gaG>gaT		melanoma antigen family C, 2							120.0	118.0	119.0					X																	141291666		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291666C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.108G>T	X.37:g.141291666C>A	ENSP00000354660:p.Glu36Asp	HNSCC(46;0.14)					p.E36D	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	455	-	Acute lymphoblastic leukemia(192;6.56e-05)		36			Poly-Glu.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.108G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	6.684	0.494730	0.12702	.	.	ENSG00000046774	ENST00000247452	T	0.02890	4.12	0.896	-1.79	0.07932	.	0.736048	0.11390	U	0.568885	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.28784	0.094	T	0.46176	-0.9210	9	0.66056	D	0.02	.	.	.	.	.	36	Q9UBF1	MAGC2_HUMAN	D	36	ENSP00000354660:E36D	ENSP00000354660:E36D	E	-	3	2	MAGEC2	141119332	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.552000	0.02176	-0.971000	0.03564	-0.487000	0.04747	GAG		0.527	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		70	107	1	0	8.27458e-37	1	1.11411e-36	70	107				
PLEC	5339	broad.mit.edu	37	8	144993745	144993745	+	Missense_Mutation	SNP	G	G	A	rs201343829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144993745G>A	ENST00000322810.4	-	32	10824	c.10655C>T	c.(10654-10656)gCg>gTg	p.A3552V	PLEC_ENST00000398774.2_Missense_Mutation_p.A3383V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3419V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3415V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3401V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3415V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3438V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3442V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3393V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3552	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCACGCCCGCCTTCACGGC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15694	0.0		0.001	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10654-10656)gCg>gTg		plectin							19.0	24.0	23.0					8																	144993745		1967	4130	6097	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993745G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10655C>T	8.37:g.144993745G>A	ENSP00000323856:p.Ala3552Val					PLEC_ENST00000354589.3_Missense_Mutation_p.A3415V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3415V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3393V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3401V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3419V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3438V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3442V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3383V	p.A3552V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10824	-			3552			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10655C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	6.388	0.439719	0.12104	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	4.94	4.94	0.65067	.	0.310219	0.23658	U	0.045853	D	0.85120	0.5624	M	0.83312	2.635	0.42008	D	0.99092	D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996	P;P;P;P;P;P;P;P	0.58620	0.755;0.755;0.755;0.842;0.755;0.755;0.755;0.755	D	0.86199	0.1617	10	0.45353	T	0.12	.	17.9563	0.89070	0.0:0.0:1.0:0.0	.	3442;3401;3393;3552;3383;3415;3419;3415	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	3415;3419;3415;3383;3552;3393;3401;3442;3438	ENSP00000344848:A3415V;ENSP00000350277:A3419V;ENSP00000346602:A3415V;ENSP00000381756:A3383V;ENSP00000323856:A3552V;ENSP00000347044:A3393V;ENSP00000348702:A3401V;ENSP00000388180:A3442V;ENSP00000434583:A3438V	ENSP00000323856:A3552V	A	-	2	0	PLEC	145065733	0.998000	0.40836	0.950000	0.38849	0.006000	0.05464	3.428000	0.52792	2.566000	0.86566	0.448000	0.29417	GCG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		11	22	0	0	0	1	0	11	22				
CTIF	9811	broad.mit.edu	37	18	46284706	46284706	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46284706T>C	ENST00000256413.3	+	8	1296	c.1001T>C	c.(1000-1002)aTc>aCc	p.I334T	CTIF_ENST00000382998.4_Missense_Mutation_p.I334T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	334					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCCGAGCGCATCGGGGAGCGG	0.552																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1000-1002)aTc>aCc		CBP80/20-dependent translation initiation factor							137.0	162.0	153.0					18																	46284706		2201	4299	6500	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284706T>C	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1001T>C	18.37:g.46284706T>C	ENSP00000256413:p.Ile334Thr					CTIF_ENST00000382998.4_Missense_Mutation_p.I334T	p.I334T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1296	+			334					B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1001T>C	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	T	0.402	-0.917973	0.02396	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.43688	0.94;0.94	5.23	1.46	0.22682	.	1.689550	0.02751	N	0.117454	T	0.30198	0.0757	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13282	-1.0515	10	0.10636	T	0.68	-11.2198	6.6509	0.22961	0.0:0.145:0.4067:0.4483	.	334;334	O43310-2;O43310	.;CTIF_HUMAN	T	334;334;286	ENSP00000256413:I334T;ENSP00000372459:I334T	ENSP00000256413:I334T	I	+	2	0	CTIF	44538704	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	-0.156000	0.10100	0.017000	0.15025	-0.372000	0.07161	ATC		0.552	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		90	161	0	0	0	1	0	90	161				
SACS	26278	broad.mit.edu	37	13	23912848	23912848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912848C>T	ENST00000382292.3	-	9	5440	c.5167G>A	c.(5167-5169)Gca>Aca	p.A1723T	SACS_ENST00000382298.3_Missense_Mutation_p.A1723T|SACS_ENST00000402364.1_Missense_Mutation_p.A973T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1723					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGTTCAATGCTTTGGAAGAG	0.363																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5167-5169)Gca>Aca		spastic ataxia of Charlevoix-Saguenay (sacsin)							49.0	50.0	49.0					13																	23912848		2202	4300	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912848C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5167G>A	13.37:g.23912848C>T	ENSP00000371729:p.Ala1723Thr					SACS_ENST00000382292.3_Missense_Mutation_p.A1723T|SACS_ENST00000402364.1_Missense_Mutation_p.A973T	p.A1723T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5755	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1723					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5167G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747806	0.30955	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.11;-2.27;-2.11	5.78	5.78	0.91487	.	0.055372	0.64402	D	0.000001	D	0.84710	0.5532	L	0.50919	1.6	0.47862	D	0.99953	B	0.18741	0.03	B	0.15870	0.014	T	0.78917	-0.2015	10	0.20046	T	0.44	.	20.0067	0.97435	0.0:1.0:0.0:0.0	.	1723	Q9NZJ4	SACS_HUMAN	T	1723;973;1723	ENSP00000371729:A1723T;ENSP00000385844:A973T;ENSP00000371735:A1723T	ENSP00000371729:A1723T	A	-	1	0	SACS	22810848	1.000000	0.71417	0.996000	0.52242	0.037000	0.13140	4.598000	0.61069	2.725000	0.93324	0.609000	0.83330	GCA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		18	39	0	0	0	1	0	18	39				
SLC4A11	83959	broad.mit.edu	37	20	3209230	3209230	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209230G>A	ENST00000380056.3	-	17	2411	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	SLC4A11_ENST00000380059.3_Silent_p.F815F|SLC4A11_ENST00000539553.2_Silent_p.F772F|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	788	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATGTAGAGGAAGAGGCCAT	0.677																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2443-2445)ttC>ttT		solute carrier family 4, sodium borate transporter, member 11							79.0	70.0	73.0					20																	3209230		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209230G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2364C>T	20.37:g.3209230G>A						SLC4A11_ENST00000539553.1_Silent_p.F772F|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.F788F	p.F815F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			18	2546	-			788			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.2445C>T	CCDS13052.1																																																																																				0.677	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			18	38	0	0	0	1	0	18	38				
OTUD4	54726	broad.mit.edu	37	4	146067419	146067419	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146067419G>A	ENST00000447906.2	-	14	1609	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	OTUD4_ENST00000454497.2_Splice_Site_p.S409S|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	474					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCATACATACGGAAAGGGCTG	0.373																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.e14+1		OTU domain containing 4							101.0	102.0	102.0					4																	146067419		2203	4300	6503	SO:0001630	splice_region_variant	54726						protein binding	g.chr4:146067419G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1422+1C>T	4.37:g.146067419G>A						OTUD4_ENST00000447906.2_Splice_Site_p.S474_splice|OTUD4_ENST00000455611.2_5'UTR	p.S409_splice	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			14	1364	-	all_hematologic(180;0.151)		473					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Splice_Site	SNP	ENST00000447906.2	37	c.1227_splice																																																																																					0.373	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	Silent	16	43	0	0	0	1	0	16	43				
PIGW	284098	broad.mit.edu	37	17	34894404	34894404	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34894404T>C	ENST00000592983.1	+	2	2034	c.1454T>C	c.(1453-1455)tTt>tCt	p.F485S	PIGW_ENST00000328396.2_Missense_Mutation_p.F485S|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	485					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTATATGTTTTCCAACTGT	0.348																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1453-1455)tTt>tCt		phosphatidylinositol glycan anchor biosynthesis, class W							57.0	56.0	56.0					17																	34894404		2201	4299	6500	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34894404T>C	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1454T>C	17.37:g.34894404T>C	ENSP00000468778:p.Phe485Ser					MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.F485S	p.F485S			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	2034	+		Breast(25;0.00957)|Ovarian(249;0.17)	485					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.1454T>C	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927609	0.73327	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.8	5.8	0.92144	.	0.167291	0.53938	D	0.000058	T	0.72977	0.3528	M	0.70275	2.135	0.54753	D	0.999983	D	0.57899	0.981	P	0.55161	0.77	T	0.74160	-0.3755	8	.	.	.	-4.1344	15.3303	0.74203	0.0:0.0:0.0:1.0	.	485	Q7Z7B1	PIGW_HUMAN	S	485	.	.	F	+	2	0	PIGW	31968517	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	7.502000	0.81614	2.217000	0.71921	0.379000	0.24179	TTT		0.348	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		7	63	0	0	0	1	0	7	63				
ABCA8	10351	broad.mit.edu	37	17	66937019	66937019	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66937019T>C	ENST00000269080.2	-	3	318	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	ABCA8_ENST00000430352.2_Missense_Mutation_p.T61A|ABCA8_ENST00000586539.1_Missense_Mutation_p.T61A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	61					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGTCCATGGTAAGCAGTGAA	0.363																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(181-183)Acc>Gcc		ATP-binding cassette, sub-family A (ABC1), member 8							83.0	80.0	81.0					17																	66937019		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66937019T>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.181A>G	17.37:g.66937019T>C	ENSP00000269080:p.Thr61Ala					ABCA8_ENST00000586539.1_Missense_Mutation_p.T61A|ABCA8_ENST00000430352.2_Missense_Mutation_p.T61A	p.T61A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			3	318	-	Breast(10;4.56e-13)		61					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.181A>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	2.618	-0.289145	0.05605	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000428549	D;D	0.87256	-2.23;-2.23	5.23	-10.5	0.00291	.	1.311950	0.05101	N	0.487155	T	0.65863	0.2732	N	0.16266	0.395	0.09310	N	1	B;B;B;B	0.09022	0.0;0.001;0.001;0.002	B;B;B;B	0.11329	0.004;0.006;0.002;0.004	T	0.57499	-0.7801	10	0.05833	T	0.94	.	2.3372	0.04251	0.2441:0.2634:0.3601:0.1324	.	61;61;61;61	A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	A	61	ENSP00000269080:T61A;ENSP00000402814:T61A	ENSP00000269080:T61A	T	-	1	0	ABCA8	64448614	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.864000	0.00724	-3.004000	0.00275	0.533000	0.62120	ACC		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		8	59	0	0	0	1	0	8	59				
PALLD	23022	broad.mit.edu	37	4	169842815	169842815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169842815G>A	ENST00000505667.1	+	18	3154	c.2981G>A	c.(2980-2982)cGt>cAt	p.R994H	PALLD_ENST00000261509.6_Missense_Mutation_p.R977H|PALLD_ENST00000335742.7_Missense_Mutation_p.R819H|PALLD_ENST00000512127.1_Missense_Mutation_p.R595H|PALLD_ENST00000507735.1_Missense_Mutation_p.R490H|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1201					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCACGTCACGTGATGCCGGC	0.537									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2455-2457)cGt>cAt		palladin, cytoskeletal associated protein							113.0	88.0	97.0					4																	169842815		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169842815G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2981G>A	4.37:g.169842815G>A	ENSP00000425556:p.Arg994His					PALLD_ENST00000261509.6_Missense_Mutation_p.R977H|PALLD_ENST00000507735.1_Missense_Mutation_p.R490H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.R595H|PALLD_ENST00000505667.1_Missense_Mutation_p.R994H	p.R819H			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	18	3813	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1201			Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Interaction with VASP (By similarity).|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2456G>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323317	0.60634	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.46	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.28712	U	0.014393	T	0.67692	0.2920	N	0.20807	0.61	0.80722	D	1	D;D;D;D	0.67145	0.996;0.994;0.984;0.996	P;P;P;P	0.61328	0.887;0.781;0.787;0.887	T	0.72187	-0.4366	10	0.66056	D	0.02	.	14.2496	0.66011	0.072:0.0:0.928:0.0	.	994;1201;595;977	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	H	977;819;994;595;490	ENSP00000261509:R977H;ENSP00000336735:R819H;ENSP00000425556:R994H;ENSP00000426947:R595H;ENSP00000424016:R490H	ENSP00000261509:R977H	R	+	2	0	PALLD	170079390	1.000000	0.71417	0.036000	0.18154	0.012000	0.07955	6.839000	0.75364	1.311000	0.45024	-0.266000	0.10368	CGT		0.537	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		17	31	0	0	0	1	0	17	31				
MED12L	116931	broad.mit.edu	37	3	151101986	151101986	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151101986A>G	ENST00000474524.1	+	33	4839	c.4801A>G	c.(4801-4803)Aat>Gat	p.N1601D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1461D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1601						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCATACATGAATTTAGTAAA	0.363																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4801-4803)Aat>Gat		mediator complex subunit 12-like							113.0	111.0	111.0					3																	151101986		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151101986A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4801A>G	3.37:g.151101986A>G	ENSP00000417235:p.Asn1601Asp					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1461D	p.N1601D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		33	4839	+			1601					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4801A>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	31	5.080343	0.94050	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.63913	0.1;-0.07	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	M	0.65498	2.005	0.80722	D	1	D;P;D	0.89917	1.0;0.928;0.97	D;P;P	0.75484	0.986;0.533;0.681	T	0.80118	-0.1516	10	0.87932	D	0	-25.7955	15.2035	0.73159	1.0:0.0:0.0:0.0	.	1461;1600;1601	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	D	1601;1461	ENSP00000417235:N1601D;ENSP00000273432:N1461D	ENSP00000273432:N1461D	N	+	1	0	MED12L	152584676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.243000	0.78219	2.064000	0.61679	0.533000	0.62120	AAT		0.363	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	69	0	0	0	1	0	8	69				
NRXN3	9369	broad.mit.edu	37	14	79746880	79746880	+	Splice_Site	SNP	C	C	T	rs199868498	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79746880C>T	ENST00000557594.1	+	1	1199	c.246C>T	c.(244-246)caC>caT	p.H82H	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Splice_Site_p.H82H|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Splice_Site_p.H82H	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	82					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGGAGGACACGGTAGGTCTC	0.488													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20893	0.0		0.0	False		,,,				2504	0.0					ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.e1+1		neurexin 3							164.0	144.0	151.0					14																	79746880		2203	4300	6503	SO:0001630	splice_region_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746880C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.247+1C>T	14.37:g.79746880C>T						NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Splice_Site_p.H82_splice|NRXN3_ENST00000557594.1_Splice_Site_p.H82_splice|NRXN3_ENST00000554719.1_Intron	p.H82_splice	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	1125	+		Renal(4;0.00876)	82					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Splice_Site	SNP	ENST00000557594.1	37	c.247_splice																																																																																					0.488	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	Silent	5	90	0	0	0	1	0	5	90				
ERCC1	2067	broad.mit.edu	37	19	45923673	45923673	+	Missense_Mutation	SNP	C	C	T	rs534169621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45923673C>T	ENST00000300853.3	-	4	925	c.334G>A	c.(334-336)Gta>Ata	p.V112I	ERCC1_ENST00000013807.5_Missense_Mutation_p.V112I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V112I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V112I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V112I|ERCC1_ENST00000423698.2_Missense_Mutation_p.V40I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	112					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)	p.V112I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AACTTCAGTACGGGATTGCCC	0.582								Nucleotide excision repair (NER)					C|||	1	0.000199681	0.0008	0.0	5008	,	,		17770	0.0		0.0	False		,,,				2504	0.0					ENST00000300853.3																			2	Substitution - Missense(2)	p.V112I(2)	endometrium(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(334-336)Gta>Ata	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)							95.0	72.0	80.0					19																	45923673		2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45923673C>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.334G>A	19.37:g.45923673C>T	ENSP00000300853:p.Val112Ile					ERCC1_ENST00000423698.2_Missense_Mutation_p.V40I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V112I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V112I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V112I|ERCC1_ENST00000013807.5_Missense_Mutation_p.V112I	p.V112I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	4	925	-		Ovarian(192;0.051)|all_neural(266;0.112)	112					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.334G>A	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156898	0.38119	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.53206	0.7;0.67;0.83;0.63	5.28	5.28	0.74379	Restriction endonuclease, type II-like (1);	0.125011	0.53938	D	0.000046	T	0.29389	0.0732	N	0.17564	0.495	0.38961	D	0.958541	B;B;B;B	0.31625	0.332;0.018;0.056;0.056	B;B;B;B	0.24006	0.05;0.002;0.029;0.029	T	0.17228	-1.0376	10	0.19147	T	0.46	-10.0472	14.4	0.67037	0.0:1.0:0.0:0.0	.	112;40;112;112	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	I	112;112;40;112	ENSP00000300853:V112I;ENSP00000345203:V112I;ENSP00000394875:V40I;ENSP00000013807:V112I	ENSP00000013807:V112I	V	-	1	0	ERCC1	50615513	0.997000	0.39634	0.984000	0.44739	0.901000	0.52897	3.582000	0.53921	2.489000	0.83994	0.455000	0.32223	GTA		0.582	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		7	11	0	0	0	1	0	7	11				
XDH	7498	broad.mit.edu	37	2	31637509	31637509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31637509G>T	ENST00000379416.3	-	1	72	c.24C>A	c.(22-24)ttC>ttA	p.F8L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	8	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CATTCACAAAGAAAACCAATT	0.498																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(22-24)ttC>ttA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						211.0	197.0	202.0					2																	31637509		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31637509G>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.24C>A	2.37:g.31637509G>T	ENSP00000368727:p.Phe8Leu						p.F8L	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			1	72	-	Acute lymphoblastic leukemia(172;0.155)		8			2Fe-2S ferredoxin-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.24C>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830658	0.50845	.	.	ENSG00000158125	ENST00000379416	T	0.30448	1.53	6.16	6.16	0.99307	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.094954	0.64402	D	0.000001	T	0.37598	0.1009	L	0.59967	1.855	0.80722	D	1	P	0.35628	0.513	B	0.39531	0.302	T	0.09618	-1.0666	10	0.56958	D	0.05	.	16.3599	0.83257	0.0:0.0:1.0:0.0	.	8	P47989	XDH_HUMAN	L	8	ENSP00000368727:F8L	ENSP00000368727:F8L	F	-	3	2	XDH	31491013	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	4.701000	0.61810	2.937000	0.99478	0.650000	0.86243	TTC		0.498	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		32	106	1	0	2.48696e-23	1	3.29125e-23	32	106				
DMWD	1762	broad.mit.edu	37	19	46289657	46289657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46289657C>A	ENST00000270223.6	-	3	1142	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.G366V|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	366										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACTTGTGGCCATGGCCTCG	0.672																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1096-1098)gGc>gTc		dystrophia myotonica, WD repeat containing							58.0	55.0	56.0					19																	46289657		2203	4299	6502	SO:0001583	missense	1762				meiosis			g.chr19:46289657C>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1097G>T	19.37:g.46289657C>A	ENSP00000270223:p.Gly366Val					DMWD_ENST00000377735.3_Missense_Mutation_p.G366V	p.G366V	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1142	-		Ovarian(192;0.0308)|all_neural(266;0.112)	366						Missense_Mutation	SNP	ENST00000270223.6	37	c.1097G>T	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943720	0.73672	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.33438	1.41;1.41	4.01	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.57666	0.2069	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.65319	-0.6197	10	0.87932	D	0	-21.8799	14.0044	0.64453	0.0:1.0:0.0:0.0	.	51;366;366	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	V	366	ENSP00000366964:G366V;ENSP00000270223:G366V	ENSP00000270223:G366V	G	-	2	0	DMWD	50981497	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	5.664000	0.68045	2.260000	0.74910	0.462000	0.41574	GGC		0.672	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		28	41	1	0	3.73148e-12	1	4.68205e-12	28	41				
SPG11	80208	broad.mit.edu	37	15	44920947	44920947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44920947C>A	ENST00000261866.7	-	10	2003	c.1987G>T	c.(1987-1989)Gat>Tat	p.D663Y	SPG11_ENST00000535302.2_Missense_Mutation_p.D663Y|SPG11_ENST00000558319.1_Missense_Mutation_p.D663Y|SPG11_ENST00000559193.1_Missense_Mutation_p.D663Y|SPG11_ENST00000427534.2_Missense_Mutation_p.D663Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	663					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTATAGCATCTGTTAGCTTC	0.348																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(1987-1989)Gat>Tat		spastic paraplegia 11 (autosomal recessive)							199.0	183.0	188.0					15																	44920947		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44920947C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1987G>T	15.37:g.44920947C>A	ENSP00000261866:p.Asp663Tyr					SPG11_ENST00000427534.2_Missense_Mutation_p.D663Y|SPG11_ENST00000558319.1_Missense_Mutation_p.D663Y|SPG11_ENST00000535302.2_Missense_Mutation_p.D663Y|SPG11_ENST00000559193.1_Missense_Mutation_p.D663Y	p.D663Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	10	2003	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	663					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.1987G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183057	0.57800	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79554	-1.28;-1.01;-1.02	5.19	5.19	0.71726	.	0.424182	0.23032	N	0.052722	D	0.84238	0.5428	M	0.66939	2.045	0.09310	N	1	D;D;D;P	0.59767	0.98;0.975;0.986;0.955	P;P;P;P	0.57152	0.73;0.725;0.814;0.641	T	0.77983	-0.2382	10	0.87932	D	0	.	8.3798	0.32463	0.0:0.8607:0.0:0.1393	.	663;663;663;663	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	Y	663	ENSP00000261866:D663Y;ENSP00000445278:D663Y;ENSP00000396110:D663Y	ENSP00000261866:D663Y	D	-	1	0	SPG11	42708239	0.001000	0.12720	0.208000	0.23602	0.974000	0.67602	0.822000	0.27352	2.430000	0.82344	0.655000	0.94253	GAT		0.348	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	119	1	0	0.0293803	1	0.0301098	6	119				
PHRF1	57661	broad.mit.edu	37	11	609277	609277	+	Missense_Mutation	SNP	T	T	G	rs564272765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:609277T>G	ENST00000264555.5	+	14	3949	c.3821T>G	c.(3820-3822)tTc>tGc	p.F1274C	PHRF1_ENST00000416188.2_Missense_Mutation_p.F1273C|PHRF1_ENST00000413872.2_Missense_Mutation_p.F1272C|PHRF1_ENST00000533464.1_Missense_Mutation_p.F1270C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1274					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TTTGATGATTTCTCAAGCGAC	0.597													T|||	1	0.000199681	0.0	0.0	5008	,	,		17256	0.001		0.0	False		,,,				2504	0.0					ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(3820-3822)tTc>tGc		PHD and ring finger domains 1							61.0	72.0	68.0					11																	609277		2166	4251	6417	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:609277T>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3821T>G	11.37:g.609277T>G	ENSP00000264555:p.Phe1274Cys					PHRF1_ENST00000416188.2_Missense_Mutation_p.F1273C|PHRF1_ENST00000533464.1_Missense_Mutation_p.F1270C|PHRF1_ENST00000413872.2_Missense_Mutation_p.F1272C	p.F1274C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	3949	+			1274					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3821T>G		.	.	.	.	.	.	.	.	.	.	T	11.14	1.550712	0.27739	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	4.79	4.79	0.61399	.	0.000000	0.41194	D	0.000921	D	0.82545	0.5060	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.87578	0.949;0.998;0.998;0.995	T	0.74044	-0.3791	10	0.62326	D	0.03	-16.1729	10.6504	0.45645	0.0:0.0:0.0:1.0	.	1270;1272;1273;1274	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	C	1274;1272;1273;1270	ENSP00000264555:F1274C;ENSP00000388589:F1272C;ENSP00000410626:F1273C;ENSP00000431870:F1270C	ENSP00000264555:F1274C	F	+	2	0	PHRF1	599277	0.471000	0.25862	0.027000	0.17364	0.003000	0.03518	2.403000	0.44530	2.022000	0.59522	0.459000	0.35465	TTC		0.597	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		3	80	0	0	0	1	0	3	80				
ZBTB3	79842	broad.mit.edu	37	11	62519916	62519916	+	Silent	SNP	G	G	A	rs372280170		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62519916G>A	ENST00000394807.3	-	2	1496	c.1371C>T	c.(1369-1371)taC>taT	p.Y457Y		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GAGCTGCTTCGTACTCAGAAG	0.542																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1369-1371)taC>taT		zinc finger and BTB domain containing 3		G		0,4404		0,0,2202	65.0	62.0	63.0		1371	-5.0	1.0	11		63	1,8597	2.2+/-6.3	0,1,4298	no	coding-synonymous	ZBTB3	NM_024784.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		457/575	62519916	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519916G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1371C>T	11.37:g.62519916G>A							p.Y457Y	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1496	-			457						Silent	SNP	ENST00000394807.3	37	c.1371C>T	CCDS8034.1																																																																																				0.542	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		18	42	0	0	0	1	0	18	42				
TNFRSF11B	4982	broad.mit.edu	37	8	119936679	119936679	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119936679C>T	ENST00000297350.4	-	5	1518	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	380					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTTCTGATACAATTTGTACA	0.383																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(1138-1140)ttG>ttA		tumor necrosis factor receptor superfamily, member 11b							167.0	171.0	169.0					8																	119936679		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119936679C>T	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.1140G>A	8.37:g.119936679C>T							p.L380L	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		5	1518	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		380					B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.1140G>A	CCDS6326.1																																																																																				0.383	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			57	95	0	0	0	1	0	57	95				
LYST	1130	broad.mit.edu	37	1	235922652	235922652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922652G>T	ENST00000389794.3	-	23	6675	c.6501C>A	c.(6499-6501)agC>agA	p.S2167R	LYST_ENST00000389793.2_Missense_Mutation_p.S2167R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2167					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAGACTCACAGCTACTGATGA	0.453																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6499-6501)agC>agA		lysosomal trafficking regulator							178.0	168.0	171.0					1																	235922652		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922652G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6501C>A	1.37:g.235922652G>T	ENSP00000374444:p.Ser2167Arg					LYST_ENST00000389793.2_Missense_Mutation_p.S2167R|LYST_ENST00000536965.1_3'UTR	p.S2167R			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6675	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2167					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6501C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794070	0.70452	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.71817	-0.6;-0.6	5.23	0.645	0.17782	.	4.504780	0.00397	N	0.000051	D	0.84188	0.5417	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.69202	-0.5207	10	0.66056	D	0.02	.	11.3145	0.49383	0.4106:0.0:0.5894:0.0	.	2167	Q99698	LYST_HUMAN	R	2167	ENSP00000374444:S2167R;ENSP00000374443:S2167R	ENSP00000374443:S2167R	S	-	3	2	LYST	233989275	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.184000	0.32053	0.231000	0.21079	0.558000	0.71614	AGC		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			8	124	1	0	5.4927e-09	1	6.6252e-09	8	124				
SMC5	23137	broad.mit.edu	37	9	72897424	72897424	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72897424G>A	ENST00000361138.5	+	7	964	c.906G>A	c.(904-906)ggG>ggA	p.G302G		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	302					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTAAAGAAGGGCAGATTCCTG	0.368																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(904-906)ggG>ggA		structural maintenance of chromosomes 5							96.0	94.0	94.0					9																	72897424		2203	4300	6503	SO:0001819	synonymous_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72897424G>A	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.906G>A	9.37:g.72897424G>A							p.G302G	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			7	964	+			302					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	ENST00000361138.5	37	c.906G>A	CCDS6632.1																																																																																				0.368	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		36	40	0	0	0	1	0	36	40				
SCN3A	6328	broad.mit.edu	37	2	165953937	165953937	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165953937T>G	ENST00000360093.3	-	23	4555	c.4064A>C	c.(4063-4065)aAt>aCt	p.N1355T	SCN3A_ENST00000409101.3_Missense_Mutation_p.N1306T|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1355T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1355					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAAACAAATTCACACCCAT	0.423																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4063-4065)aAt>aCt		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						147.0	132.0	137.0					2																	165953937		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953937T>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4064A>C	2.37:g.165953937T>G	ENSP00000353206:p.Asn1355Thr					SCN3A_ENST00000409101.3_Missense_Mutation_p.N1306T|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1355T	p.N1355T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			23	4555	-			1355					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4064A>C		.	.	.	.	.	.	.	.	.	.	T	22.4	4.291135	0.80914	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.72	4.57	0.56435	Ion transport (1);	0.080255	0.53938	D	0.000051	D	0.98779	0.9589	M	0.83118	2.625	0.80722	D	1	D;P;B;B;D	0.89917	1.0;0.474;0.421;0.421;1.0	D;B;B;B;D	0.97110	0.999;0.285;0.254;0.254;1.0	D	0.99383	1.0923	10	0.87932	D	0	.	11.6798	0.51451	0.0:0.069:0.0:0.931	.	1355;1306;1306;1306;1355	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	T	1355;1355;1306;1306	ENSP00000353206:N1355T;ENSP00000283254:N1355T;ENSP00000386726:N1306T;ENSP00000403348:N1306T	ENSP00000283254:N1355T	N	-	2	0	SCN3A	165662183	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	1.112000	0.41740	0.533000	0.62120	AAT		0.423	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		5	68	0	0	0	1	0	5	68				
ANO4	121601	broad.mit.edu	37	12	101333158	101333158	+	Missense_Mutation	SNP	G	G	A	rs555894245		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101333158G>A	ENST00000392977.3	+	4	436	c.226G>A	c.(226-228)Gat>Aat	p.D76N	ANO4_ENST00000392979.3_Missense_Mutation_p.D41N|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.D242N			Q32M45	ANO4_HUMAN	anoctamin 4	76					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAAGATGACGATTCTCTTCT	0.403										HNSCC(74;0.22)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18859	0.0		0.001	False		,,,				2504	0.0					ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(121-123)Gat>Aat		anoctamin 4							134.0	132.0	132.0					12																	101333158		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101333158G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.226G>A	12.37:g.101333158G>A	ENSP00000376703:p.Asp76Asn	HNSCC(74;0.22)				ANO4_ENST00000538618.1_Missense_Mutation_p.D242N|ANO4_ENST00000392977.3_Missense_Mutation_p.D76N|ANO4_ENST00000299222.9_5'UTR	p.D41N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			3	482	+			76					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	G	28.8	4.952706	0.92660	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.46451	0.87;0.87;0.87	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.33485	1.01	0.80722	D	1	P;P	0.43352	0.804;0.759	B;B	0.33339	0.058;0.162	T	0.07731	-1.0757	10	0.23302	T	0.38	.	19.0559	0.93064	0.0:0.0:1.0:0.0	.	76;41	Q32M45;Q32M45-2	ANO4_HUMAN;.	N	242;41;76	ENSP00000443751:D242N;ENSP00000376705:D41N;ENSP00000376703:D76N	ENSP00000376703:D76N	D	+	1	0	ANO4	99857289	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.605000	0.82844	2.510000	0.84645	0.650000	0.86243	GAT		0.403	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		27	60	0	0	0	1	0	27	60				
SLC9C1	285335	broad.mit.edu	37	3	111923202	111923202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111923202C>T	ENST00000305815.5	-	17	2287	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E631K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	679					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATTGCTAACTCGAATATGTTC	0.289																																						ENST00000305815.5																			0											c.(2035-2037)Gag>Aag		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							129.0	130.0	130.0					3																	111923202		2202	4297	6499	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111923202C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2035G>A	3.37:g.111923202C>T	ENSP00000306627:p.Glu679Lys					SLC9C1_ENST00000487372.1_Missense_Mutation_p.E631K	p.E679K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			17	2287	-			679					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2035G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267980	0.40095	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.97710	-4.5;-4.5	5.58	4.72	0.59763	.	0.218239	0.32952	N	0.005453	D	0.97914	0.9314	L	0.60455	1.87	0.26533	N	0.974211	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.918	D	0.94173	0.7425	10	0.72032	D	0.01	.	10.6667	0.45734	0.0:0.9116:0.0:0.0884	.	631;679	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	K	679;631	ENSP00000306627:E679K;ENSP00000420688:E631K	ENSP00000306627:E679K	E	-	1	0	SLC9A10	113405892	1.000000	0.71417	0.246000	0.24233	0.006000	0.05464	2.511000	0.45476	1.353000	0.45828	-0.448000	0.05591	GAG		0.289	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		45	79	0	0	0	1	0	45	79				
VIT	5212	broad.mit.edu	37	2	37041325	37041325	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37041325G>T	ENST00000389975.3	+	15	2160		c.e15-1		VIT_ENST00000379241.3_Splice_Site|VIT_ENST00000379242.3_Splice_Site|VIT_ENST00000404084.1_Splice_Site|VIT_ENST00000401530.1_Splice_Site|VIT_ENST00000497382.1_Splice_Site	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTCCCCACAGGAGTGATCAC	0.512																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.e16-1		vitrin							92.0	81.0	85.0					2																	37041325		2203	4300	6503	SO:0001630	splice_region_variant	5212					proteinaceous extracellular matrix		g.chr2:37041325G>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1859-1G>T	2.37:g.37041325G>T						VIT_ENST00000379241.3_Splice_Site|VIT_ENST00000497382.1_Splice_Site|VIT_ENST00000389975.3_Splice_Site|VIT_ENST00000404084.1_Splice_Site|VIT_ENST00000401530.1_Splice_Site		NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			16	2205	+		all_hematologic(82;0.248)						A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Splice_Site	SNP	ENST00000389975.3	37		CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813825	0.90790	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4602	0.94914	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VIT	36894829	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.827000	0.99397	2.590000	0.87494	0.655000	0.94253	.		0.512	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			Intron	20	15	1	0	3.51602e-12	1	4.4132e-12	20	15				
ANXA6	309	broad.mit.edu	37	5	150512099	150512099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150512099G>A	ENST00000354546.5	-	10	901	c.674C>T	c.(673-675)cCg>cTg	p.P225L	ANXA6_ENST00000523714.1_Missense_Mutation_p.P193L|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.P225L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	225					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTTCAATCGGCTTCCCTGT	0.542																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(673-675)cCg>cTg		annexin A6							48.0	50.0	49.0					5																	150512099		1933	4139	6072	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512099G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.674C>T	5.37:g.150512099G>A	ENSP00000346550:p.Pro225Leu					ANXA6_ENST00000523714.1_Missense_Mutation_p.P193L|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.P225L|ANXA6_ENST00000521512.1_Intron	p.P225L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	901	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	225					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.674C>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065811	0.93898	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.03413	3.94;3.94;3.94	5.31	5.31	0.75309	Annexin repeat, conserved site (1);	0.238808	0.44483	D	0.000454	T	0.07818	0.0196	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	P;P	0.52672	0.706;0.706	T	0.09487	-1.0672	10	0.87932	D	0	.	15.8962	0.79336	0.0:0.0:1.0:0.0	.	225;225	A6NN80;P08133	.;ANXA6_HUMAN	L	225;193;225;99	ENSP00000346550:P225L;ENSP00000430517:P193L;ENSP00000348889:P225L	ENSP00000346550:P225L	P	-	2	0	ANXA6	150492292	0.999000	0.42202	0.990000	0.47175	0.937000	0.57800	2.965000	0.49200	2.487000	0.83934	0.650000	0.86243	CCG		0.542	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		5	13	0	0	0	1	0	5	13				
ZDHHC16	84287	broad.mit.edu	37	10	99213323	99213323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213323G>A	ENST00000370854.3	+	6	782	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	ZDHHC16_ENST00000393760.1_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R133Q|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000495735.1_3'UTR	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	198					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TATAACCATCGGTACTTCTTC	0.488																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(592-594)cGg>cAg		zinc finger, DHHC-type containing 16							291.0	248.0	263.0					10																	99213323		2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99213323G>A	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.593G>A	10.37:g.99213323G>A	ENSP00000359891:p.Arg198Gln					ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R133Q|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000495735.1_3'UTR	p.R198Q	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	7	942	+		Colorectal(252;0.0846)	198					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.593G>A	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.385948|5.385948	0.95967|0.95967	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000420089;ENST00000417044|ENST00000370854;ENST00000393760;ENST00000414567;ENST00000352634;ENST00000370842;ENST00000345745;ENST00000433086	.|T;T;T;T;T;T;T	.|0.26518	.|1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Zinc finger, DHHC-type, palmitoyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59155|0.59155	0.2173|0.2173	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.999;0.998;0.994;0.998;1.0;0.999	T|T	0.60742|0.60742	-0.7203|-0.7203	5|10	.|0.56958	.|D	.|0.05	-18.7209|-18.7209	20.3645|20.3645	0.98876|0.98876	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|198;133;173;133;198;198	.|B4DNL2;E9PCL9;B1AMU1;Q969W1-4;Q969W1-2;Q969W1	.|.;.;.;.;.;ZDH16_HUMAN	S|Q	174;140|198;198;198;198;198;133;133	.|ENSP00000359891:R198Q;ENSP00000377357:R198Q;ENSP00000400719:R198Q;ENSP00000345383:R198Q;ENSP00000359879:R198Q;ENSP00000304487:R133Q;ENSP00000398532:R133Q	.|ENSP00000304487:R133Q	G|R	+|+	1|2	0|0	ZDHHC16|ZDHHC16	99203313|99203313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.869000|9.869000	0.99810|0.99810	2.821000|2.821000	0.97095|0.97095	0.561000|0.561000	0.74099|0.74099	GGT|CGG		0.488	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		62	79	0	0	0	1	0	62	79				
SLC46A2	57864	broad.mit.edu	37	9	115651934	115651934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115651934C>T	ENST00000374228.4	-	1	1259	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	343					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCGAAAGCAGCGGGAGAAGAC	0.527																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(1027-1029)cGc>cAc		solute carrier family 46, member 2							99.0	87.0	91.0					9																	115651934		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115651934C>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1028G>A	9.37:g.115651934C>T	ENSP00000363345:p.Arg343His						p.R343H	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			1	1259	-			343					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.1028G>A	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937407	0.73557	.	.	ENSG00000119457	ENST00000374228	T	0.65178	-0.14	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.170884	0.51477	D	0.000100	T	0.71719	0.3373	L	0.56769	1.78	0.39360	D	0.965905	D	0.89917	1.0	D	0.79784	0.993	T	0.68153	-0.5484	10	0.21540	T	0.41	-25.8003	10.2306	0.43253	0.0:0.8524:0.0:0.1476	.	343	Q9BY10	TSCOT_HUMAN	H	343	ENSP00000363345:R343H	ENSP00000363345:R343H	R	-	2	0	SLC46A2	114691755	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.725000	0.38074	2.763000	0.94921	0.555000	0.69702	CGC		0.527	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		8	13	0	0	0	1	0	8	13				
EARS2	124454	broad.mit.edu	37	16	23546566	23546566	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23546566G>T	ENST00000563459.1	-	4	607	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	EARS2_ENST00000449606.1_Missense_Mutation_p.L201M|EARS2_ENST00000563232.1_Missense_Mutation_p.L201M|EARS2_ENST00000564501.1_Missense_Mutation_p.L201M|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	201					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CCATAGACCAGGTCCTGGAAG	0.627																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(601-603)Ctg>Atg		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						48.0	50.0	49.0					16																	23546566		2091	4213	6304	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23546566G>T	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.601C>A	16.37:g.23546566G>T	ENSP00000456467:p.Leu201Met					EARS2_ENST00000563459.1_Missense_Mutation_p.L201M|EARS2_ENST00000563232.1_Missense_Mutation_p.L201M|EARS2_ENST00000564501.1_Missense_Mutation_p.L201M|EARS2_ENST00000564987.1_5'UTR	p.L201M	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	4	632	-			201					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.601C>A	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305417	0.60305	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.25912	1.77	5.56	1.38	0.22167	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.131866	0.52532	N	0.000071	T	0.29976	0.0750	L	0.43598	1.365	0.46609	D	0.999128	D;P	0.76494	0.999;0.795	D;P	0.66716	0.946;0.596	T	0.36504	-0.9745	10	0.07325	T	0.83	-2.2311	6.6602	0.23011	0.2042:0.0:0.6704:0.1254	.	201;201	Q86YH3;Q5JPH6	.;SYEM_HUMAN	M	201	ENSP00000395196:L201M	ENSP00000343488:L201M	L	-	1	2	EARS2	23454067	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	1.314000	0.33597	0.045000	0.15804	0.655000	0.94253	CTG		0.627	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		5	54	1	0	1.23904e-05	1	1.39987e-05	5	54				
DNAH1	25981	broad.mit.edu	37	3	52417476	52417476	+	Silent	SNP	G	G	A	rs534846709		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52417476G>A	ENST00000420323.2	+	51	8277	c.8016G>A	c.(8014-8016)gcG>gcA	p.A2672A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATACTGCGGACGAGCAGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		23001	0.0		0.0	False		,,,				2504	0.001					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8014-8016)gcG>gcA		dynein, axonemal, heavy chain 1							81.0	81.0	81.0					3																	52417476		2030	4181	6211	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417476G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8016G>A	3.37:g.52417476G>A							p.A2672A	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	51	8277	+			2672			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.8016G>A	CCDS46842.1																																																																																				0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	11	0	0	0	1	0	4	11				
SLC6A4	6532	broad.mit.edu	37	17	28537538	28537538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28537538T>C	ENST00000401766.2	-	10	1956	c.1444A>G	c.(1444-1446)Act>Gct	p.T482A	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T482A			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	482					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CTCACAAAAGTCAGGGTGACC	0.592																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1444-1446)Act>Gct		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						99.0	84.0	89.0					17																	28537538		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28537538T>C	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1444A>G	17.37:g.28537538T>C	ENSP00000385822:p.Thr482Ala					SLC6A4_ENST00000261707.3_Missense_Mutation_p.T482A	p.T482A			P31645	SC6A4_HUMAN			10	1956	-			482					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.1444A>G	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055547	0.93793	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.77620	-1.11;-1.11	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	M	0.90870	3.155	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.92346	0.5885	10	0.87932	D	0	.	15.7575	0.78046	0.0:0.0:0.0:1.0	.	482	P31645	SC6A4_HUMAN	A	524;482;482	ENSP00000385822:T482A;ENSP00000261707:T482A	ENSP00000261707:T482A	T	-	1	0	SLC6A4	25561664	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.786000	0.85741	2.317000	0.78254	0.459000	0.35465	ACT		0.592	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		5	57	0	0	0	1	0	5	57				
RP1L1	94137	broad.mit.edu	37	8	10469301	10469301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10469301C>A	ENST00000382483.3	-	4	2530	c.2307G>T	c.(2305-2307)agG>agT	p.R769S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	769					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGAGCATGTCCTGGACCCCG	0.662																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2305-2307)agG>agT		retinitis pigmentosa 1-like 1							49.0	57.0	54.0					8																	10469301		1975	4139	6114	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469301C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2307G>T	8.37:g.10469301C>A	ENSP00000371923:p.Arg769Ser						p.R769S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2530	-			769					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2307G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.624009	0.46840	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	5.11	-0.72	0.11195	.	0.503436	0.15211	N	0.274444	T	0.03220	0.0094	L	0.27053	0.805	0.09310	N	1	B	0.34290	0.447	B	0.34180	0.177	T	0.39643	-0.9604	10	0.66056	D	0.02	-6.0704	3.5884	0.07979	0.1885:0.3682:0.0:0.4433	.	769	A6NKC6	.	S	769	ENSP00000371923:R769S	ENSP00000371923:R769S	R	-	3	2	RP1L1	10506711	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.703000	0.05063	0.135000	0.18707	-0.448000	0.05591	AGG		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			21	41	1	0	1.10513e-12	1	1.39297e-12	21	41				
PKN3	29941	broad.mit.edu	37	9	131479061	131479061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131479061G>A	ENST00000291906.4	+	16	2237	c.1844G>A	c.(1843-1845)gGc>gAc	p.G615D	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCTGTGGGCTGCACAGGG	0.582																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1843-1845)gGc>gAc		protein kinase N3							198.0	155.0	170.0					9																	131479061		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131479061G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1844G>A	9.37:g.131479061G>A	ENSP00000291906:p.Gly615Asp					PKN3_ENST00000485301.1_3'UTR	p.G615D	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			16	2237	+			615			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1844G>A	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747572	0.30955	.	.	ENSG00000160447	ENST00000291906	T	0.63913	-0.07	5.35	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.48205	0.1487	N	0.04162	-0.26	0.28533	N	0.912518	P	0.44260	0.83	P	0.50440	0.641	T	0.41945	-0.9480	9	0.59425	D	0.04	.	7.4788	0.27393	0.0888:0.1703:0.7409:0.0	.	615	Q6P5Z2	PKN3_HUMAN	D	615	ENSP00000291906:G615D	ENSP00000291906:G615D	G	+	2	0	PKN3	130518882	1.000000	0.71417	0.719000	0.30619	0.331000	0.28603	5.554000	0.67294	1.219000	0.43474	0.558000	0.71614	GGC		0.582	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		50	62	0	0	0	1	0	50	62				
SNAPC1	6617	broad.mit.edu	37	14	62259551	62259551	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62259551G>A	ENST00000216294.4	+	9	1107	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	335					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ACACAAGGAAGATAAACCTTT	0.289																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(1003-1005)Gat>Aat		small nuclear RNA activating complex, polypeptide 1, 43kDa							106.0	114.0	111.0					14																	62259551		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62259551G>A	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.1003G>A	14.37:g.62259551G>A	ENSP00000216294:p.Asp335Asn						p.D335N	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	9	1107	+			335						Missense_Mutation	SNP	ENST00000216294.4	37	c.1003G>A	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031494	0.35797	.	.	ENSG00000023608	ENST00000216294	.	.	.	4.79	4.79	0.61399	.	1.164420	0.05991	N	0.645952	T	0.44477	0.1295	L	0.44542	1.39	0.25682	N	0.985785	B	0.23937	0.094	B	0.21917	0.037	T	0.22661	-1.0210	9	0.22109	T	0.4	-21.3102	13.5135	0.61526	0.0:0.0:1.0:0.0	.	335	Q16533	SNPC1_HUMAN	N	335	.	ENSP00000216294:D335N	D	+	1	0	SNAPC1	61329304	1.000000	0.71417	0.950000	0.38849	0.878000	0.50629	3.555000	0.53727	2.638000	0.89438	0.655000	0.94253	GAT		0.289	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		27	47	0	0	0	1	0	27	47				
KEL	3792	broad.mit.edu	37	7	142640600	142640600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142640600G>A	ENST00000355265.2	-	15	2150	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	559					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGAATGGGGGTTGGAGGAG	0.537																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1675-1677)cCc>cTc		Kell blood group, metallo-endopeptidase							128.0	115.0	120.0					7																	142640600		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142640600G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1676C>T	7.37:g.142640600G>A	ENSP00000347409:p.Pro559Leu						p.P559L	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			15	2150	-	Melanoma(164;0.059)		559					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1676C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400267	0.83120	.	.	ENSG00000197993	ENST00000355265	D	0.83250	-1.7	4.88	4.88	0.63580	Peptidase M13, neprilysin, C-terminal (2);	0.225071	0.31897	N	0.006889	D	0.90686	0.7078	M	0.83384	2.64	0.47276	D	0.999378	D	0.71674	0.998	D	0.69824	0.966	D	0.91773	0.5429	10	0.87932	D	0	-32.9991	13.4092	0.60933	0.0:0.0:1.0:0.0	.	559	P23276	KELL_HUMAN	L	559	ENSP00000347409:P559L	ENSP00000347409:P559L	P	-	2	0	KEL	142350722	0.998000	0.40836	0.995000	0.50966	0.883000	0.51084	3.313000	0.51935	2.524000	0.85096	0.655000	0.94253	CCC		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		31	26	0	0	0	1	0	31	26				
FXR2	9513	broad.mit.edu	37	17	7504815	7504815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7504815G>A	ENST00000250113.7	-	7	906	c.572C>T	c.(571-573)gCa>gTa	p.A191V		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	191						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A191E(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CAGCAGAGATGCTCGCTTCAC	0.493																																						ENST00000250113.7																			2	Substitution - Missense(1)|Unknown(1)	p.A191E(1)|p.?(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(571-573)gCa>gTa		fragile X mental retardation, autosomal homolog 2							189.0	185.0	186.0					17																	7504815		1949	4157	6106	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7504815G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.572C>T	17.37:g.7504815G>A	ENSP00000250113:p.Ala191Val						p.A191V	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	7	906	-			191					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.572C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629312	0.67015	.	.	ENSG00000129245	ENST00000250113	T	0.42513	0.97	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	N	0.16130	0.375	0.80722	D	1	B;B	0.33299	0.407;0.407	B;B	0.42112	0.376;0.376	T	0.14008	-1.0488	10	0.23302	T	0.38	-0.2831	10.2266	0.43229	0.0898:0.0:0.9102:0.0	.	191;191	Q86V09;P51116	.;FXR2_HUMAN	V	191	ENSP00000250113:A191V	ENSP00000250113:A191V	A	-	2	0	FXR2	7445540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.383000	0.52471	2.546000	0.85860	0.643000	0.83706	GCA		0.493	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			64	93	0	0	0	1	0	64	93				
BICD2	23299	broad.mit.edu	37	9	95482688	95482688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95482688G>A	ENST00000375512.3	-	4	1023	c.956C>T	c.(955-957)aCg>aTg	p.T319M	BICD2_ENST00000356884.6_Missense_Mutation_p.T319M	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	319					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTGGGCGTGGAGGTCTT	0.622																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(955-957)aCg>aTg		bicaudal D homolog 2 (Drosophila)							82.0	89.0	86.0					9																	95482688		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482688G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.956C>T	9.37:g.95482688G>A	ENSP00000364662:p.Thr319Met					BICD2_ENST00000375512.3_Missense_Mutation_p.T319M	p.T319M	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			4	1023	-			319					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.956C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729620	0.30684	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.48836	0.8;0.8	5.21	2.39	0.29439	.	0.159539	0.53938	N	0.000057	T	0.32585	0.0834	L	0.47716	1.5	0.47584	D	0.999466	P;P	0.39404	0.621;0.672	B;B	0.27887	0.05;0.084	T	0.07481	-1.0770	10	0.48119	T	0.1	-8.2098	8.8757	0.35343	0.2483:0.0:0.7517:0.0	.	319;319	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	M	319	ENSP00000349351:T319M;ENSP00000364662:T319M	ENSP00000349351:T319M	T	-	2	0	BICD2	94522509	1.000000	0.71417	0.639000	0.29394	0.556000	0.35491	4.836000	0.62789	0.310000	0.22990	-0.142000	0.14014	ACG		0.622	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		30	32	0	0	0	1	0	30	32				
HEATR3	55027	broad.mit.edu	37	16	50112928	50112928	+	Splice_Site	SNP	C	C	T	rs201075876		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50112928C>T	ENST00000299192.7	+	7	1231	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	HEATR3_ENST00000285767.4_Splice_Site_p.P261L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	347										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GATTTACTTCCGGTAAGTCAG	0.343																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e7+1		HEAT repeat containing 3																																				SO:0001630	splice_region_variant	55027						binding	g.chr16:50112928C>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1041+1C>T	16.37:g.50112928C>T						HEATR3_ENST00000285767.4_Splice_Site_p.P261_splice	p.P347_splice	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			7	1231	+			347					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Splice_Site	SNP	ENST00000299192.7	37	c.1041_splice	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109671	0.77096	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.44083	0.93;0.93	5.84	5.84	0.93424	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.67953	2.075	0.80722	D	1	P;D	0.89917	0.803;1.0	B;D	0.87578	0.147;0.998	T	0.53373	-0.8448	10	0.10902	T	0.67	.	20.1524	0.98091	0.0:1.0:0.0:0.0	.	261;347	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	L	261;347	ENSP00000285767:P261L;ENSP00000299192:P347L	ENSP00000285767:P261L	P	+	2	0	HEATR3	48670429	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	5.717000	0.68446	2.762000	0.94881	0.551000	0.68910	CCG		0.343	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Missense_Mutation	24	57	0	0	0	1	0	24	57				
TRBV6-5	28602	broad.mit.edu	37	7	142180690	142180690	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142180690C>A	ENST00000390368.2	-	0	234									T cell receptor beta variable 6-5																		ATGCCTGGGTCTTGTCGATAC	0.507																																						ENST00000390368.2																			0																				321.0	326.0	325.0					7																	142180690		2029	4193	6222			0							g.chr7:142180690C>A	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180690C>A														0	234	-									RNA	SNP	ENST00000390368.2	37																																																																																						0.507	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		40	467	1	0	6.33695e-27	1	8.44593e-27	40	467				
SPC25	57405	broad.mit.edu	37	2	169745979	169745979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169745979C>T	ENST00000282074.2	-	2	192	c.51G>A	c.(49-51)tgG>tgA	p.W17*	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	17	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TGAATTTATTCCAAAATTCAT	0.368																																						ENST00000282074.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(49-51)tgG>tgA		SPC25, NDC80 kinetochore complex component							77.0	73.0	74.0					2																	169745979		2203	4300	6503	SO:0001587	stop_gained	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr2:169745979C>T	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.51G>A	2.37:g.169745979C>T	ENSP00000282074:p.Trp17*					SPC25_ENST00000472216.2_5'UTR	p.W17*	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN			2	192	-			17			Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.		A8K4X8|D3DPC0	Nonsense_Mutation	SNP	ENST00000282074.2	37	c.51G>A	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	C	39	7.507658	0.98325	.	.	ENSG00000152253	ENST00000282074;ENST00000451987	.	.	.	6.16	4.39	0.52855	.	0.317848	0.36374	N	0.002628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.5242	9.651	0.39897	0.0:0.8556:0.0:0.1444	.	.	.	.	X	17	.	ENSP00000282074:W17X	W	-	3	0	SPC25	169454225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.049000	0.30392	0.946000	0.37632	0.650000	0.86243	TGG		0.368	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		13	19	0	0	0	1	0	13	19				
FBXW10	10517	broad.mit.edu	37	17	18682533	18682533	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18682533C>A	ENST00000395665.4	+	14	3302	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	FBXW10_ENST00000308799.4_Silent_p.I1036I|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000395667.1_Silent_p.I1026I|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000301938.4_Silent_p.I974I|TVP23B_ENST00000574226.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1027										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCAGGAAGATCAAAGGCCTGC	0.463																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3106-3108)atC>atA		F-box and WD repeat domain containing 10							26.0	26.0	26.0					17																	18682533		1919	3602	5521	SO:0001819	synonymous_variant	10517							g.chr17:18682533C>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.3081C>A	17.37:g.18682533C>A						FBXW10_ENST00000395665.4_Silent_p.I1027I|FBXW10_ENST00000395667.1_Silent_p.I1026I|FBXW10_ENST00000301938.4_Silent_p.I974I	p.I1036I			Q5XX13	FBW10_HUMAN			12	3327	+			1027					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	ENST00000395665.4	37	c.3108C>A	CCDS11199.3																																																																																				0.463	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		22	30	1	0	1.22574e-08	1	1.47244e-08	22	30				
B4GALNT3	283358	broad.mit.edu	37	12	667216	667216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:667216C>T	ENST00000266383.5	+	17	2582	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	857					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAACTTTGAACGCTCAGCTGG	0.557																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2569-2571)Cgc>Tgc		beta-1,4-N-acetyl-galactosaminyl transferase 3							84.0	82.0	83.0					12																	667216		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667216C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2569C>T	12.37:g.667216C>T	ENSP00000266383:p.Arg857Cys						p.R857C	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		17	2582	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		857					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2569C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513057	0.85389	.	.	ENSG00000139044	ENST00000266383	T	0.37584	1.19	4.97	4.97	0.65823	.	0.100704	0.64402	D	0.000002	T	0.66982	0.2845	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74213	-0.3738	10	0.87932	D	0	-21.5172	18.6071	0.91271	0.0:1.0:0.0:0.0	.	857	Q6L9W6	B4GN3_HUMAN	C	857	ENSP00000266383:R857C	ENSP00000266383:R857C	R	+	1	0	B4GALNT3	537477	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.515000	0.67049	2.454000	0.82982	0.561000	0.74099	CGC		0.557	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		12	36	0	0	0	1	0	12	36				
AKAP9	10142	broad.mit.edu	37	7	91715584	91715584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91715584C>T	ENST00000359028.2	+	37	9304	c.9079C>T	c.(9079-9081)Cga>Tga	p.R3027*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R2973*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3023*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3027					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAGACTGGCGAGGTGAACT	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9079-9081)Cga>Tga		A kinase (PRKA) anchor protein 9							139.0	134.0	135.0					7																	91715584		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91715584C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9079C>T	7.37:g.91715584C>T	ENSP00000351922:p.Arg3027*					AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R2973*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3023*	p.R3027*			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		37	9304	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3027					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.9079C>T		.	.	.	.	.	.	.	.	.	.	C	52	18.970861	0.99913	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	4.89	4.89	0.63831	.	0.000000	0.31784	N	0.007076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6171	0.91306	0.0:1.0:0.0:0.0	.	.	.	.	X	3023;3027;2973;3027;869	.	ENSP00000348573:R3023X	R	+	1	2	AKAP9	91553520	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.852000	0.75430	2.693000	0.91896	0.585000	0.79938	CGA		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		137	99	0	0	0	1	0	137	99				
KLHL41	10324	broad.mit.edu	37	2	170374879	170374879	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170374879C>T	ENST00000284669.1	+	4	1633	c.1556C>T	c.(1555-1557)aCa>aTa	p.T519I	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.T457I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.T457I	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	519					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											GACCTTACAACAAATAAGTGA	0.353																																						ENST00000284669.1																			0											c.(1555-1557)aCa>aTa		kelch-like family member 41							67.0	64.0	65.0					2																	170374879		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170374879C>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1556C>T	2.37:g.170374879C>T	ENSP00000284669:p.Thr519Ile					KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.T457I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.T457I	p.T519I	NM_006063.2	NP_006054.2					4	1633	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1556C>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176349	0.38413	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.81247	-1.47;-1.47;-1.47	5.82	1.96	0.26148	Kelch-type beta propeller (1);	0.191374	0.53938	N	0.000051	D	0.84165	0.5412	M	0.89658	3.05	0.51767	D	0.999938	B;B	0.33919	0.0;0.432	B;B	0.40940	0.003;0.344	T	0.81996	-0.0676	10	0.87932	D	0	.	9.0253	0.36224	0.0:0.6476:0.2279:0.1245	.	457;519	E9PBE3;O60662	.;KBTBA_HUMAN	I	457;457;519	ENSP00000452313:T457I;ENSP00000424363:T457I;ENSP00000284669:T519I	ENSP00000284669:T519I	T	+	2	0	BBS5;RP11-724O16.1;KBTBD10	170083125	1.000000	0.71417	0.925000	0.36789	0.222000	0.24845	3.937000	0.56575	0.156000	0.19299	-0.187000	0.12897	ACA		0.353	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		23	39	0	0	0	1	0	23	39				
ZKSCAN2	342357	broad.mit.edu	37	16	25258460	25258460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258460C>T	ENST00000328086.7	-	5	1860	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	353					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGAGAATTGCCAGGAAAGTC	0.468																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1057-1059)Gca>Aca		zinc finger with KRAB and SCAN domains 2							116.0	109.0	111.0					16																	25258460		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258460C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1057G>A	16.37:g.25258460C>T	ENSP00000331626:p.Ala353Thr						p.A353T	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1860	-			353					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1057G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191353	0.78902	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.42131	0.98	6.06	4.13	0.48395	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000006	T	0.59348	0.2187	M	0.69248	2.105	0.35400	D	0.791536	B;D;B	0.89917	0.035;1.0;0.035	B;D;B	0.85130	0.061;0.997;0.061	T	0.69269	-0.5189	10	0.72032	D	0.01	-9.2644	9.506	0.39046	0.0:0.8388:0.0:0.1612	.	149;353;353	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	T	353	ENSP00000331626:A353T	ENSP00000331626:A353T	A	-	1	0	ZKSCAN2	25165961	0.773000	0.28580	0.995000	0.50966	0.932000	0.56968	0.682000	0.25335	0.911000	0.36747	-0.136000	0.14681	GCA		0.468	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		34	59	0	0	0	1	0	34	59				
SCAMP5	192683	broad.mit.edu	37	15	75310806	75310806	+	Missense_Mutation	SNP	C	C	T	rs138727668		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75310806C>T	ENST00000361900.6	+	7	650	c.443C>T	c.(442-444)gCg>gTg	p.A148V	SCAMP5_ENST00000425597.3_Missense_Mutation_p.A148V|SCAMP5_ENST00000568081.1_Missense_Mutation_p.A81V|SCAMP5_ENST00000562212.1_Missense_Mutation_p.A156V|SCAMP5_ENST00000545456.1_Missense_Mutation_p.A77V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	148					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATTGGCTCGGCGGTGGTGATG	0.577																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(442-444)gCg>gTg		secretory carrier membrane protein 5							174.0	164.0	167.0					15																	75310806		2039	4187	6226	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75310806C>T	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.443C>T	15.37:g.75310806C>T	ENSP00000355387:p.Ala148Val					SCAMP5_ENST00000562212.1_Missense_Mutation_p.A156V|SCAMP5_ENST00000425597.3_Missense_Mutation_p.A148V|SCAMP5_ENST00000545456.1_Missense_Mutation_p.A77V|SCAMP5_ENST00000568081.1_Missense_Mutation_p.A81V	p.A148V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			7	650	+			148					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.443C>T	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215858	0.58452	.	.	ENSG00000198794	ENST00000361900;ENST00000425597;ENST00000545456	T;T;T	0.18657	2.2;2.2;2.2	4.53	4.53	0.55603	.	0.053328	0.85682	D	0.000000	T	0.49406	0.1555	M	0.83223	2.63	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.68621	0.915;0.689;0.959	T	0.58070	-0.7701	10	0.87932	D	0	-10.7149	16.4422	0.83905	0.0:1.0:0.0:0.0	.	77;156;148	Q8TAC9-3;Q8TAC9-2;Q8TAC9	.;.;SCAM5_HUMAN	V	148;148;77	ENSP00000355387:A148V;ENSP00000406547:A148V;ENSP00000439685:A77V	ENSP00000355387:A148V	A	+	2	0	SCAMP5	73097859	1.000000	0.71417	0.732000	0.30844	0.058000	0.15608	5.735000	0.68587	2.338000	0.79540	0.561000	0.74099	GCG		0.577	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		7	105	0	0	0	1	0	7	105				
ATF6	22926	broad.mit.edu	37	1	161790922	161790922	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161790922A>G	ENST00000367942.3	+	9	1225	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	386					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TAGTATTGGCATTTATAATAC	0.318																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1156-1158)gcA>gcG		activating transcription factor 6							164.0	168.0	167.0					1																	161790922		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161790922A>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1158A>G	1.37:g.161790922A>G							p.A386A	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		9	1225	+	all_hematologic(112;0.156)		386					O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.1158A>G	CCDS1235.1																																																																																				0.318	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		8	110	0	0	0	1	0	8	110				
PNN	5411	broad.mit.edu	37	14	39648331	39648331	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39648331G>T	ENST00000216832.4	+	7	602	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F	PNN_ENST00000553331.1_3'UTR|PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	179	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAAACTTGAAGTTCAGGCAGA	0.388																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(535-537)Gtt>Ttt		pinin, desmosome associated protein							85.0	90.0	89.0					14																	39648331		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39648331G>T	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.535G>T	14.37:g.39648331G>T	ENSP00000216832:p.Val179Phe					PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	p.V179F	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	7	602	+	Hepatocellular(127;0.213)		179			Glu-rich.|Necessary for interaction with RNPS1.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.535G>T	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576012	0.86645	.	.	ENSG00000100941	ENST00000216832	T	0.32753	1.44	5.97	5.97	0.96955	Pinin/SDK/MemA protein (1);	0.053585	0.64402	D	0.000001	T	0.50786	0.1636	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	T	0.39014	-0.9634	10	0.56958	D	0.05	-8.5119	20.4238	0.99064	0.0:0.0:1.0:0.0	.	179	Q9H307	PININ_HUMAN	F	179	ENSP00000216832:V179F	ENSP00000216832:V179F	V	+	1	0	PNN	38718082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.948000	0.87774	2.834000	0.97654	0.650000	0.86243	GTT		0.388	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		29	44	1	0	1.17739e-12	1	1.48344e-12	29	44				
OR5B3	441608	broad.mit.edu	37	11	58170821	58170821	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58170821A>G	ENST00000309403.2	-	1	61	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGAACCTGCAGTTCTGAGTC	0.418																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(61-63)cTg>cCg		olfactory receptor, family 5, subfamily B, member 3							129.0	126.0	127.0					11																	58170821		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170821A>G	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.62T>C	11.37:g.58170821A>G	ENSP00000308270:p.Leu21Pro						p.L21P	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	61	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	21					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.62T>C	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	13.55	2.271746	0.40194	.	.	ENSG00000172769	ENST00000309403	T	0.03413	3.94	4.19	4.19	0.49359	.	0.000000	0.33496	N	0.004841	T	0.20941	0.0504	M	0.89840	3.065	0.58432	D	0.999999	D	0.76494	0.999	D	0.69824	0.966	T	0.02484	-1.1152	10	0.87932	D	0	-23.9017	12.4788	0.55829	1.0:0.0:0.0:0.0	.	21	Q8NH48	OR5B3_HUMAN	P	21	ENSP00000308270:L21P	ENSP00000308270:L21P	L	-	2	0	OR5B3	57927397	0.000000	0.05858	0.184000	0.23157	0.205000	0.24178	0.831000	0.27476	1.893000	0.54813	0.477000	0.44152	CTG		0.418	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		19	122	0	0	0	1	0	19	122				
MFHAS1	9258	broad.mit.edu	37	8	8748217	8748217	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8748217C>T	ENST00000276282.6	-	1	2938	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	784										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACTGATGGAGCTGGGTGGCCC	0.632																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2350-2352)caG>caA		malignant fibrous histiocytoma amplified sequence 1							54.0	54.0	54.0					8																	8748217		2203	4300	6503	SO:0001819	synonymous_variant	9258							g.chr8:8748217C>T	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2352G>A	8.37:g.8748217C>T							p.Q784Q	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2938	-		Hepatocellular(245;0.217)	784					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.2352G>A	CCDS34844.1																																																																																				0.632	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		16	32	0	0	0	1	0	16	32				
ZNF658	26149	broad.mit.edu	37	9	40773300	40773300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:40773300C>T	ENST00000602553.1	-	5	2269	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(1975-1977)Gaa>Aaa		zinc finger protein 658							131.0	137.0	135.0					9																	40773300		2202	4297	6499	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773300C>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1975G>A	9.37:g.40773300C>T	ENSP00000473484:p.Glu659Lys					ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K|ZNF658_ENST00000441795.1_Intron	p.E659K			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2269	-			659					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.1975G>A	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	9.285	1.049208	0.19827	.	.	ENSG00000196409	ENST00000377626	T	0.06608	3.28	1.98	-0.0348	0.13895	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.02412	-0.56	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.25813	-1.0121	9	0.07030	T	0.85	.	4.5057	0.11887	0.0:0.6348:0.0:0.3652	.	659	Q5TYW1	ZN658_HUMAN	K	659	ENSP00000366853:E659K	ENSP00000366853:E659K	E	-	1	0	ZNF658	40763300	0.000000	0.05858	0.157000	0.22605	0.986000	0.74619	-3.026000	0.00640	-0.006000	0.14370	0.518000	0.50308	GAA		0.418	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		53	136	0	0	0	1	0	53	136				
LNX2	222484	broad.mit.edu	37	13	28127484	28127484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28127484C>T	ENST00000316334.3	-	8	1768	c.1639G>A	c.(1639-1641)Gct>Act	p.A547T		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	547	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGGCAACAGCAGGGGACGCG	0.498																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1639-1641)Gct>Act		ligand of numb-protein X 2							105.0	97.0	100.0					13																	28127484		2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28127484C>T	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1639G>A	13.37:g.28127484C>T	ENSP00000325929:p.Ala547Thr						p.A547T	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	8	1768	-		Lung SC(185;0.0156)	547			PDZ 3.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1639G>A	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397786	0.25205	.	.	ENSG00000139517	ENST00000316334	T	0.37411	1.2	6.1	3.27	0.37495	PDZ/DHR/GLGF (3);	0.276679	0.42053	N	0.000761	T	0.09818	0.0241	N	0.00960	-1.095	0.20563	N	0.99989	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.02654	T	1	.	8.2198	0.31534	0.1237:0.743:0.0:0.1334	.	547	Q8N448	LNX2_HUMAN	T	547	ENSP00000325929:A547T	ENSP00000325929:A547T	A	-	1	0	LNX2	27025484	0.770000	0.28543	0.041000	0.18516	0.680000	0.39746	1.542000	0.36137	0.363000	0.24346	0.650000	0.86243	GCT		0.498	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			17	44	0	0	0	1	0	17	44				
GABRG1	2565	broad.mit.edu	37	4	46067588	46067588	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067588T>A	ENST00000295452.4	-	4	502	c.335A>T	c.(334-336)gAt>gTt	p.D112V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	112					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAAATTATATCTATTGTATA	0.269																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(334-336)gAt>gTt		gamma-aminobutyric acid (GABA) A receptor, gamma 1							27.0	28.0	28.0					4																	46067588		2196	4292	6488	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067588T>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.335A>T	4.37:g.46067588T>A	ENSP00000295452:p.Asp112Val						p.D112V	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	502	-			112					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.335A>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036568	0.75617	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79845	-1.31	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94507	0.7715	10	0.87932	D	0	.	14.3199	0.66479	0.0:0.0:0.0:1.0	.	112	Q8N1C3	GBRG1_HUMAN	V	112	ENSP00000295452:D112V	ENSP00000295452:D112V	D	-	2	0	GABRG1	45762345	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.993000	0.88291	2.032000	0.59987	0.416000	0.27883	GAT		0.269	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		13	6	0	0	0	1	0	13	6				
DEFA4	1669	broad.mit.edu	37	8	6794287	6794287	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6794287G>T	ENST00000297435.2	-	2	259	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	45					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCCATGCAAAGGAAATAGATA	0.562																																						ENST00000297435.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(133-135)tcC>tcA		defensin, alpha 4, corticostatin							89.0	87.0	88.0					8																	6794287		2203	4300	6503	SO:0001819	synonymous_variant	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794287G>T	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.135C>A	8.37:g.6794287G>T							p.S45S	NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	259	-			45					Q6EZF8	Silent	SNP	ENST00000297435.2	37	c.135C>A	CCDS5961.1																																																																																				0.562	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		4	58	1	0	0.150653	1	0.152692	4	58				
SPESP1	246777	broad.mit.edu	37	15	69238356	69238356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69238356G>T	ENST00000310673.3	+	2	637	c.483G>T	c.(481-483)atG>atT	p.M161I	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	161					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGAATGTTGCCAGTTG	0.438																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(481-483)atG>atT		sperm equatorial segment protein 1							102.0	100.0	101.0					15																	69238356		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238356G>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.483G>T	15.37:g.69238356G>T	ENSP00000312284:p.Met161Ile					NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	p.M161I	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	637	+			161					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.483G>T	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	6.844	0.524982	0.13066	.	.	ENSG00000258484	ENST00000310673	T	0.23754	1.89	3.89	-1.67	0.08238	.	6.671080	0.00706	N	0.000811	T	0.12561	0.0305	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23976	-1.0173	10	0.36615	T	0.2	7.169	7.6761	0.28486	0.5446:0.0:0.4554:0.0	.	161	Q6UW49	SPESP_HUMAN	I	161	ENSP00000312284:M161I	ENSP00000312284:M161I	M	+	3	0	SPESP1	67025410	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.075000	0.14686	-0.317000	0.08677	-0.244000	0.11960	ATG		0.438	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		38	54	1	0	4.92203e-23	1	6.50827e-23	38	54				
IRF2BP1	26145	broad.mit.edu	37	19	46387584	46387584	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46387584G>A	ENST00000302165.3	-	1	1792	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGACAGCTTCGGCCCCCGCTG	0.716																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(1447-1449)gcC>gcT		interferon regulatory factor 2 binding protein 1							8.0	10.0	9.0					19																	46387584		2124	4192	6316	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387584G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1449C>T	19.37:g.46387584G>A							p.A483A	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1792	-		all_neural(266;0.113)|Ovarian(192;0.127)	483					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.1449C>T	CCDS12678.1																																																																																				0.716	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		6	14	0	0	0	1	0	6	14				
DNAH17	8632	broad.mit.edu	37	17	76548828	76548828	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76548828A>G	ENST00000585328.1	-	15	2362	c.2238T>C	c.(2236-2238)atT>atC	p.I746I	DNAH17_ENST00000389840.5_Silent_p.I746I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	746	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGACATCAATTGCTTCCA	0.423																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(2236-2238)atT>atC		dynein, axonemal, heavy chain 17							231.0	229.0	230.0					17																	76548828		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76548828A>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2238T>C	17.37:g.76548828A>G						DNAH17_ENST00000585328.1_Silent_p.I746I	p.I746I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		15	2362	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.2238T>C																																																																																					0.423	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		16	183	0	0	0	1	0	16	183				
ERCC6	2074	broad.mit.edu	37	10	50667171	50667171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50667171G>A	ENST00000355832.5	-	21	4250	c.4172C>T	c.(4171-4173)gCt>gTt	p.A1391V	ERCC6_ENST00000542458.1_Missense_Mutation_p.A761V|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1391					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCATTTTAGCCAAGAGTGA	0.507								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4171-4173)gCt>gTt	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							97.0	106.0	103.0					10																	50667171		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50667171G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4172C>T	10.37:g.50667171G>A	ENSP00000348089:p.Ala1391Val					ERCC6_ENST00000542458.1_Missense_Mutation_p.A761V|RP11-123B3.2_ENST00000423283.1_RNA	p.A1391V	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			21	4250	-			1391					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.4172C>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613637	0.96637	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.84660	-1.88;-1.61	5.87	5.87	0.94306	.	.	.	.	.	D	0.91988	0.7462	M	0.80847	2.515	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.59643	0.761;0.861	D	0.90977	0.4824	9	0.48119	T	0.1	-11.9238	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1391;768	Q03468;Q59FF6	ERCC6_HUMAN;.	V	1391;768;761	ENSP00000348089:A1391V;ENSP00000445134:A761V	ENSP00000348089:A1391V	A	-	2	0	ERCC6	50337177	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.174000	0.94824	2.941000	0.99782	0.655000	0.94253	GCT		0.507	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		17	111	0	0	0	1	0	17	111				
PNPLA1	285848	broad.mit.edu	37	6	36262002	36262002	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36262002C>A	ENST00000394571.2	+	4	540	c.540C>A	c.(538-540)ccC>ccA	p.P180P	PNPLA1_ENST00000388715.3_Silent_p.P85P|PNPLA1_ENST00000312917.5_Silent_p.P94P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	180	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCATGCAGCCCTGTGCCTTCT	0.622																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(538-540)ccC>ccA		patatin-like phospholipase domain containing 1							87.0	66.0	73.0					6																	36262002		2203	4300	6503	SO:0001819	synonymous_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36262002C>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.540C>A	6.37:g.36262002C>A						PNPLA1_ENST00000312917.5_Silent_p.P94P|PNPLA1_ENST00000388715.3_Silent_p.P85P	p.P180P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			4	540	+			180			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	c.540C>A	CCDS54997.1																																																																																				0.622	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		15	31	1	0	2.23348e-06	1	2.57349e-06	15	31				
TNRC6C	57690	broad.mit.edu	37	17	76045849	76045849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76045849G>A	ENST00000588061.1	+	5	1433	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	TNRC6C_ENST00000544502.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V236I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000335749.4_Missense_Mutation_p.V236I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V236I			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	236	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGTTTCTCAAGTCAGTGGGGG	0.542																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(706-708)Gtc>Atc		trinucleotide repeat containing 6C							125.0	125.0	125.0					17																	76045849		1973	4153	6126	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76045849G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.706G>A	17.37:g.76045849G>A	ENSP00000468647:p.Val236Ile					TNRC6C_ENST00000588061.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V236I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V236I	p.V236I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	1275	+			236			Gly-rich.|Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.706G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417344	0.42918	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.53;2.53;2.5	5.36	5.36	0.76844	.	0.256890	0.40469	N	0.001099	T	0.14356	0.0347	L	0.34521	1.04	0.41370	D	0.987483	B;B;B	0.26195	0.144;0.136;0.089	B;B;B	0.29785	0.107;0.099;0.049	T	0.10177	-1.0641	10	0.23891	T	0.37	-5.5389	19.277	0.94036	0.0:0.0:1.0:0.0	.	236;236;236	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	I	236	ENSP00000336783:V236I;ENSP00000301624:V236I;ENSP00000440310:V236I;ENSP00000442421:V236I	ENSP00000301624:V236I	V	+	1	0	TNRC6C	73557444	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.320000	0.59203	2.782000	0.95742	0.655000	0.94253	GTC		0.542	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		6	120	0	0	0	1	0	6	120				
SRSF5	6430	broad.mit.edu	37	14	70237985	70237985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70237985G>A	ENST00000553521.1	+	9	2079	c.626G>A	c.(625-627)cGc>cAc	p.R209H	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.R209H|SRSF5_ENST00000553635.1_Missense_Mutation_p.R206H|SRSF5_ENST00000557154.1_Missense_Mutation_p.R209H			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	209	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						TCCCGTAGTCGCAAATCTTAC	0.537																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(625-627)cGc>cAc		serine/arginine-rich splicing factor 5							89.0	97.0	95.0					14																	70237985		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70237985G>A	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.626G>A	14.37:g.70237985G>A	ENSP00000452123:p.Arg209His					SRSF5_ENST00000553635.1_Missense_Mutation_p.R206H|SRSF5_ENST00000394366.2_Missense_Mutation_p.R209H|SRSF5_ENST00000557154.1_Missense_Mutation_p.R209H|SRSF5_ENST00000556587.1_3'UTR	p.R209H			Q13243	SRSF5_HUMAN			9	2079	+			209			Arg/Ser-rich (RS domain).		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.626G>A	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593709	0.66219	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.78	5.78	0.91487	.	0.957442	0.08760	N	0.897940	T	0.33440	0.0863	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	T	0.01273	-1.1399	10	0.27785	T	0.31	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	206;209	Q13243-3;Q13243	.;SRSF5_HUMAN	H	209;209;209;206	ENSP00000452123:R209H;ENSP00000377892:R209H;ENSP00000451088:R209H;ENSP00000451391:R206H	ENSP00000377892:R209H	R	+	2	0	SRSF5	69307738	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	6.356000	0.73046	2.738000	0.93877	0.655000	0.94253	CGC		0.537	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		36	67	0	0	0	1	0	36	67				
OSBP2	23762	broad.mit.edu	37	22	31302206	31302206	+	Silent	SNP	G	G	A	rs543702119		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31302206G>A	ENST00000332585.6	+	14	2735	c.2631G>A	c.(2629-2631)acG>acA	p.T877T	OSBP2_ENST00000403222.3_Silent_p.T711T|OSBP2_ENST00000446658.2_Silent_p.T876T|OSBP2_ENST00000535268.1_Silent_p.T421T|OSBP2_ENST00000382310.3_Missense_Mutation_p.A871T|OSBP2_ENST00000401475.1_Silent_p.T510T|OSBP2_ENST00000437268.2_Silent_p.T620T|OSBP2_ENST00000407373.1_Silent_p.T704T	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	877					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ATGCCTACACGCCACTGTGGT	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13033	0.0		0.0	False		,,,				2504	0.0					ENST00000382310.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(2611-2613)Gcc>Acc		oxysterol binding protein 2							60.0	77.0	71.0					22																	31302206		2137	4241	6378	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31302206G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2631G>A	22.37:g.31302206G>A						OSBP2_ENST00000332585.6_Silent_p.T877T|OSBP2_ENST00000403222.3_Silent_p.T711T|OSBP2_ENST00000446658.2_Silent_p.T876T|OSBP2_ENST00000407373.1_Silent_p.T704T|OSBP2_ENST00000401475.1_Silent_p.T510T|OSBP2_ENST00000535268.1_Silent_p.T421T|OSBP2_ENST00000437268.2_Silent_p.T620T	p.A871T			Q969R2	OSBP2_HUMAN			12	2647	+			0					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2611G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.190|9.190	1.025677|1.025677	0.19512|0.19512	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000382310;ENST00000452656|ENST00000431368	T|.	0.32988|.	1.43|.	4.77|4.77	-3.63|-3.63	0.04529|0.04529	.|.	.|.	.|.	.|.	.|.	T|T	0.39091|0.39091	0.1065|0.1065	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.26002|.	0.139|.	B|.	0.15052|.	0.012|.	T|T	0.37526|0.37526	-0.9702|-0.9702	7|4	.|.	.|.	.|.	-0.0332|-0.0332	2.3295|2.3295	0.04232|0.04232	0.1212:0.2105:0.3463:0.322|0.1212:0.2105:0.3463:0.322	.|.	871|.	B4DFA8|.	.|.	T|H	871;447|549	ENSP00000371747:A871T|.	.|.	A|R	+|+	1|2	0|0	OSBP2|OSBP2	29632206|29632206	0.204000|0.204000	0.23447|0.23447	0.028000|0.028000	0.17463|0.17463	0.654000|0.654000	0.38779|0.38779	0.486000|0.486000	0.22340|0.22340	-0.310000|-0.310000	0.08766|0.08766	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.647	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		4	50	0	0	0	1	0	4	50				
IZUMO1	284359	broad.mit.edu	37	19	49249026	49249026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49249026G>T	ENST00000332955.2	-	2	638	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	31					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTAGCGCCAGCACGACAGAC	0.572																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(91-93)Ctg>Atg		izumo sperm-egg fusion 1							121.0	127.0	125.0					19																	49249026		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49249026G>T	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.91C>A	19.37:g.49249026G>T	ENSP00000327786:p.Leu31Met						p.L31M	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	2	638	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	31					Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.91C>A	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.773270	0.49786	.	.	ENSG00000182264	ENST00000332955	T	0.21734	1.99	5.11	-3.52	0.04682	.	2.166350	0.02242	N	0.065915	T	0.14657	0.0354	N	0.22421	0.69	0.09310	N	1	P	0.52463	0.953	P	0.45449	0.481	T	0.13764	-1.0497	10	0.59425	D	0.04	-0.3386	1.4889	0.02453	0.1228:0.3739:0.2168:0.2866	.	31	Q8IYV9	IZUM1_HUMAN	M	31	ENSP00000327786:L31M	ENSP00000327786:L31M	L	-	1	2	IZUMO1	53940838	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.133000	0.10451	-0.524000	0.06400	-0.305000	0.09177	CTG		0.572	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		7	75	1	0	8.12818e-05	1	8.99451e-05	7	75				
MGP	4256	broad.mit.edu	37	12	15035207	15035207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15035207C>A	ENST00000539261.1	-	4	312	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Nonsense_Mutation_p.E85*	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	60	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TTAGAGCGTTCTCGGATCCTA	0.418																																						ENST00000539261.1																			0				large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						c.(178-180)Gaa>Taa		matrix Gla protein							127.0	120.0	123.0					12																	15035207		2203	4300	6503	SO:0001587	stop_gained	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15035207C>A	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.178G>T	12.37:g.15035207C>A	ENSP00000445907:p.Glu60*					C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Nonsense_Mutation_p.E85*	p.E60*	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN			4	312	-			60			Gla.		A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Nonsense_Mutation	SNP	ENST00000539261.1	37	c.178G>T	CCDS8669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.43|18.43	3.623014|3.623014	0.66901|0.66901	.|.	.|.	ENSG00000111341|ENSG00000111341	ENST00000539261;ENST00000228938|ENST00000545199	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.111134|.	0.64402|.	D|.	0.000009|.	.|T	.|0.69566	.|0.3125	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66826	.|-0.5825	.|4	0.56958|.	D|.	0.05|.	-5.1689|-5.1689	14.2526|14.2526	0.66031|0.66031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	60;85|14	.|.	ENSP00000228938:E85X|.	E|R	-|-	1|2	0|0	MGP|MGP	14926474|14926474	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.296000|0.296000	0.27459|0.27459	4.104000|4.104000	0.57790|0.57790	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.418	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		11	100	1	0	0.000978159	1	0.00105116	11	100				
IVL	3713	broad.mit.edu	37	1	152883903	152883903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152883903G>A	ENST00000368764.3	+	2	1694	c.1630G>A	c.(1630-1632)Gtg>Atg	p.V544M	IVL_ENST00000392667.2_Missense_Mutation_p.V398M			P07476	INVO_HUMAN	involucrin	544					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggagcagcCTGTGTTTGCCCC	0.587																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1630-1632)Gtg>Atg		involucrin							54.0	54.0	54.0					1																	152883903		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883903G>A	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1630G>A	1.37:g.152883903G>A	ENSP00000357753:p.Val544Met					IVL_ENST00000392667.2_Missense_Mutation_p.V398M	p.V544M			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1694	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		544					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1630G>A	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	6.104	0.387365	0.11581	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.19669	2.92;2.13	3.65	-0.595	0.11660	.	.	.	.	.	T	0.06554	0.0168	M	0.61703	1.905	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.37079	-0.9721	9	0.49607	T	0.09	.	2.5967	0.04855	0.1901:0.1433:0.5203:0.1462	.	544	P07476	INVO_HUMAN	M	544;398	ENSP00000357753:V544M;ENSP00000376435:V398M	ENSP00000357753:V544M	V	+	1	0	IVL	151150527	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.483000	0.06536	-0.336000	0.08438	-1.119000	0.02030	GTG		0.587	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		4	33	0	0	0	1	0	4	33				
OCA2	4948	broad.mit.edu	37	15	28202803	28202803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28202803C>T	ENST00000354638.3	-	16	1870	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	OCA2_ENST00000382996.2_Missense_Mutation_p.R572H|OCA2_ENST00000353809.5_Missense_Mutation_p.R548H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	572					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCAGGCGGCGCACAGCTGT	0.657									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1714-1716)cGc>cAc		oculocutaneous albinism II							27.0	30.0	29.0					15																	28202803		2201	4294	6495	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202803C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1715G>A	15.37:g.28202803C>T	ENSP00000346659:p.Arg572His					OCA2_ENST00000353809.5_Missense_Mutation_p.R548H|OCA2_ENST00000382996.2_Missense_Mutation_p.R572H	p.R572H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1870	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	572					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1715G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280515	0.59758	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91740	-2.89;-2.72;-2.9	5.8	3.7	0.42460	Divalent ion symporter (1);	0.118953	0.53938	D	0.000046	D	0.93523	0.7933	M	0.64997	1.995	0.39678	D	0.970859	P;D	0.89917	0.609;1.0	B;D	0.74023	0.145;0.982	D	0.92871	0.6314	10	0.72032	D	0.01	-7.3542	5.1429	0.14969	0.0:0.656:0.0:0.3439	.	548;572	Q04671-2;Q04671	.;P_HUMAN	H	572;548;572	ENSP00000346659:R572H;ENSP00000261276:R548H;ENSP00000372457:R572H	ENSP00000261276:R548H	R	-	2	0	OCA2	25876398	0.999000	0.42202	0.210000	0.23637	0.164000	0.22412	3.414000	0.52693	1.448000	0.47680	0.591000	0.81541	CGC		0.657	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		22	23	0	0	0	1	0	22	23				
ITPR3	3710	broad.mit.edu	37	6	33657132	33657132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33657132G>A	ENST00000374316.5	+	51	7872	c.6812G>A	c.(6811-6813)cGc>cAc	p.R2271H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2271H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2271					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCATCCTGCGCTCCATCTAC	0.582																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6811-6813)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							108.0	92.0	97.0					6																	33657132		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33657132G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6812G>A	6.37:g.33657132G>A	ENSP00000363435:p.Arg2271His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2271H	p.R2271H			Q14573	ITPR3_HUMAN			51	7872	+			2271					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6812G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495365	0.96355	.	.	ENSG00000096433	ENST00000374316	D	0.92699	-3.09	5.07	5.07	0.68467	.	0.053033	0.64402	D	0.000003	D	0.96204	0.8762	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.95	D	0.96347	0.9255	10	0.72032	D	0.01	-30.6562	18.6371	0.91383	0.0:0.0:1.0:0.0	.	2271;1941	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2271	ENSP00000363435:R2271H	ENSP00000363435:R2271H	R	+	2	0	ITPR3	33765110	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.263000	0.95617	2.653000	0.90120	0.561000	0.74099	CGC		0.582	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		24	39	0	0	0	1	0	24	39				
TRPC6	7225	broad.mit.edu	37	11	101341917	101341917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101341917G>A	ENST00000344327.3	-	9	2830	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	TRPC6_ENST00000532133.1_Silent_p.N724N|TRPC6_ENST00000360497.4_Silent_p.N747N|TRPC6_ENST00000348423.4_Silent_p.N686N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	802					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGTTACCTTGTTCATCTCTG	0.378																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2404-2406)aaC>aaT		transient receptor potential cation channel, subfamily C, member 6							126.0	132.0	130.0					11																	101341917		2203	4299	6502	SO:0001819	synonymous_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101341917G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2406C>T	11.37:g.101341917G>A						TRPC6_ENST00000348423.4_Silent_p.N686N|TRPC6_ENST00000360497.4_Silent_p.N747N|TRPC6_ENST00000532133.1_Silent_p.N724N	p.N802N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	9	2830	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	802					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	ENST00000344327.3	37	c.2406C>T	CCDS8311.1																																																																																				0.378	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		48	112	0	0	0	1	0	48	112				
NELFB	25920	broad.mit.edu	37	9	140161738	140161738	+	Missense_Mutation	SNP	G	G	A	rs372893987		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140161738G>A	ENST00000343053.4	+	10	1622	c.1285G>A	c.(1285-1287)Gtc>Atc	p.V429I		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	429					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCTGTACTACGTCCTGCACAT	0.677																																						ENST00000343053.4																			0											c.(1285-1287)Gtc>Atc		negative elongation factor complex member B		G	ILE/VAL	0,4406		0,0,2203	51.0	44.0	46.0		1285	5.4	1.0	9		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	COBRA1	NM_015456.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	429/581	140161738	1,13005	2203	4300	6503	SO:0001583	missense	25920							g.chr9:140161738G>A	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1285G>A	9.37:g.140161738G>A	ENSP00000339495:p.Val429Ile						p.V429I	NM_015456.3	NP_056271.2					10	1622	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1285G>A	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538598	0.27475	0.0	1.16E-4	ENSG00000188986	ENST00000343053	.	.	.	5.45	5.45	0.79879	.	0.299613	0.36854	N	0.002363	T	0.14442	0.0349	N	0.02916	-0.46	0.27350	N	0.956265	B	0.14012	0.009	B	0.12837	0.008	T	0.18618	-1.0331	9	0.15499	T	0.54	-53.1694	8.5518	0.33455	0.1639:0.0:0.8361:0.0	.	429	Q8WX92	NELFB_HUMAN	I	429	.	ENSP00000339495:V429I	V	+	1	0	COBRA1	139281559	1.000000	0.71417	0.996000	0.52242	0.872000	0.50106	3.735000	0.55044	2.567000	0.86603	0.579000	0.79373	GTC		0.677	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		11	13	0	0	0	1	0	11	13				
C11orf49	79096	broad.mit.edu	37	11	47074068	47074068	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47074068C>T	ENST00000278460.7	+	3	338	c.279C>T	c.(277-279)ggC>ggT	p.G93G	C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000395460.2_Splice_Site_p.G93G|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Splice_Site_p.G93G|C11orf49_ENST00000378615.3_Splice_Site_p.G93G	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	93						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						GCAAAAATGGCGGTAAGTCTT	0.463																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.e3+1		chromosome 11 open reading frame 49							103.0	104.0	103.0					11																	47074068		2201	4299	6500	SO:0001630	splice_region_variant	79096							g.chr11:47074068C>T	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.280+1C>T	11.37:g.47074068C>T						C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378615.3_Splice_Site_p.G93_splice|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378618.2_Splice_Site_p.G93_splice|C11orf49_ENST00000278460.7_Splice_Site_p.G93_splice	p.G93_splice	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN			3	317	+			93					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Splice_Site	SNP	ENST00000278460.7	37	c.280_splice	CCDS7925.1																																																																																				0.463	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113	Silent	26	29	0	0	0	1	0	26	29				
C2orf16	84226	broad.mit.edu	37	2	27799956	27799956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799956G>A	ENST00000408964.2	+	1	568	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	173						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAGGCATAGATACTGTAGA	0.403																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(517-519)Gat>Aat		chromosome 2 open reading frame 16							77.0	72.0	73.0					2																	27799956		1873	4107	5980	SO:0001583	missense	84226							g.chr2:27799956G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.517G>A	2.37:g.27799956G>A	ENSP00000386190:p.Asp173Asn						p.D173N	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	568	+	Acute lymphoblastic leukemia(172;0.155)		173					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.517G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747539	0.30955	.	.	ENSG00000221843	ENST00000408964	T	0.06142	3.34	3.91	2.83	0.33086	.	.	.	.	.	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	1	P	0.38020	0.615	B	0.29785	0.107	T	0.41270	-0.9518	9	0.87932	D	0	.	5.5533	0.17103	0.2023:0.0:0.7977:0.0	.	173	Q68DN1	CB016_HUMAN	N	173	ENSP00000386190:D173N	ENSP00000386190:D173N	D	+	1	0	C2orf16	27653460	0.512000	0.26186	0.031000	0.17742	0.032000	0.12392	1.423000	0.34837	0.608000	0.30000	0.563000	0.77884	GAT		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		28	56	0	0	0	1	0	28	56				
ZNF236	7776	broad.mit.edu	37	18	74607198	74607198	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74607198C>A	ENST00000253159.8	+	10	1839	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L	ZNF236_ENST00000320610.9_Missense_Mutation_p.F549L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	547					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGAAGAGCTTCTCCACCTCTG	0.617																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(1639-1641)ttC>ttA		zinc finger protein 236							53.0	58.0	56.0					18																	74607198		2194	4291	6485	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74607198C>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1641C>A	18.37:g.74607198C>A	ENSP00000253159:p.Phe547Leu					ZNF236_ENST00000320610.9_Missense_Mutation_p.F549L	p.F547L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	10	1839	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	547					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1641C>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807730	0.70797	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.46063	0.88;0.88	5.48	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.87900	2.915	0.42482	D	0.992865	D	0.76494	0.999	D	0.79108	0.992	T	0.64101	-0.6486	10	0.87932	D	0	.	8.096	0.30829	0.0:0.4338:0.0:0.5662	.	547	Q9UL36	ZN236_HUMAN	L	547	ENSP00000253159:F547L;ENSP00000444524:F547L	ENSP00000253159:F547L	F	+	3	2	ZNF236	72736186	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.023000	0.30065	0.267000	0.21916	0.563000	0.77884	TTC		0.617	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			15	22	1	0	6.31663e-08	1	7.49729e-08	15	22				
TTK	7272	broad.mit.edu	37	6	80744846	80744846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80744846C>T	ENST00000369798.2	+	15	1870	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	TTK_ENST00000230510.3_Nonsense_Mutation_p.R586*|TTK_ENST00000509894.1_Nonsense_Mutation_p.R586*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	587	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAGATCATCCGACTTTATGA	0.279																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1756-1758)Cga>Tga		TTK protein kinase							66.0	71.0	69.0					6																	80744846		2193	4283	6476	SO:0001587	stop_gained	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80744846C>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1759C>T	6.37:g.80744846C>T	ENSP00000358813:p.Arg587*					TTK_ENST00000230510.3_Nonsense_Mutation_p.R586*|TTK_ENST00000369798.2_Nonsense_Mutation_p.R587*	p.R586*			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	15	2585	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	587			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	c.1756C>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	39	7.338050	0.98221	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	.	.	.	5.63	4.77	0.60923	.	0.054464	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6941	0.34284	0.1498:0.7743:0.0:0.0759	.	.	.	.	X	586;586;587	.	ENSP00000230510:R586X	R	+	1	2	TTK	80801565	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.852000	0.55934	1.404000	0.46819	0.551000	0.68910	CGA		0.279	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			28	47	0	0	0	1	0	28	47				
LRPPRC	10128	broad.mit.edu	37	2	44173377	44173377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44173377C>T	ENST00000260665.7	-	21	2142	c.2085G>A	c.(2083-2085)atG>atA	p.M695I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	695					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGCTTTTTGCATATTCTAAA	0.318																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2083-2085)atG>atA		leucine-rich pentatricopeptide repeat containing							66.0	66.0	66.0					2																	44173377		2202	4298	6500	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44173377C>T	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2085G>A	2.37:g.44173377C>T	ENSP00000260665:p.Met695Ile						p.M695I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			21	2142	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	695					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2085G>A	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972327	0.53614	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.54866	0.55	5.63	4.75	0.60458	.	0.094597	0.64402	D	0.000001	T	0.56848	0.2013	M	0.77616	2.38	0.80722	D	1	B;B	0.31274	0.317;0.278	B;B	0.36567	0.228;0.112	T	0.55042	-0.8202	10	0.25106	T	0.35	-7.1232	14.8368	0.70190	0.0:0.93:0.0:0.07	.	595;695	F5H4J6;P42704	.;LPPRC_HUMAN	I	595;695	ENSP00000260665:M695I	ENSP00000260665:M695I	M	-	3	0	LRPPRC	44026881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.571000	0.67404	2.654000	0.90174	0.650000	0.86243	ATG		0.318	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		4	37	0	0	0	1	0	4	37				
ELMO1	9844	broad.mit.edu	37	7	36927174	36927174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36927174G>A	ENST00000310758.4	-	18	2352	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	ELMO1_ENST00000396045.3_Missense_Mutation_p.R89W|ELMO1_ENST00000396040.2_Missense_Mutation_p.R89W|ELMO1_ENST00000341056.3_Missense_Mutation_p.R271W|ELMO1_ENST00000448602.1_Missense_Mutation_p.R569W|ELMO1_ENST00000442504.1_Missense_Mutation_p.R569W	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	569	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGCCTCCGCCGGGCATTG	0.512																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1705-1707)Cgg>Tgg		engulfment and cell motility 1							108.0	100.0	102.0					7																	36927174		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36927174G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1705C>T	7.37:g.36927174G>A	ENSP00000312185:p.Arg569Trp					ELMO1_ENST00000341056.3_Missense_Mutation_p.R271W|ELMO1_ENST00000396040.2_Missense_Mutation_p.R89W|ELMO1_ENST00000442504.1_Missense_Mutation_p.R569W|ELMO1_ENST00000396045.3_Missense_Mutation_p.R89W|ELMO1_ENST00000448602.1_Missense_Mutation_p.R569W	p.R569W	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			18	2352	-			569			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1705C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232358	0.58777	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.59	-0.208	0.13185	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.053094	0.64402	D	0.000001	T	0.74589	0.3736	M	0.89715	3.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	T	0.82782	-0.0287	10	0.87932	D	0	.	16.3489	0.83191	0.0:0.0:0.3188:0.6812	.	569	Q92556	ELMO1_HUMAN	W	271;89;569;473;89;569;569	ENSP00000342142:R271W;ENSP00000379360:R89W;ENSP00000312185:R569W;ENSP00000379355:R89W;ENSP00000406952:R569W;ENSP00000394458:R569W	ENSP00000312185:R569W	R	-	1	2	ELMO1	36893699	0.985000	0.35326	0.990000	0.47175	0.994000	0.84299	1.366000	0.34193	0.252000	0.21531	0.655000	0.94253	CGG		0.512	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		5	42	0	0	0	1	0	5	42				
RGS3	5998	broad.mit.edu	37	9	116346483	116346483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346483C>T	ENST00000374140.2	+	21	3000	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	RGS3_ENST00000343817.5_Silent_p.L650L|RGS3_ENST00000462143.1_Silent_p.L252L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Silent_p.L931L|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Silent_p.L252L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	931					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCTCTCACTGCGTGTGCA	0.672																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2791-2793)Ctg>Ttg		regulator of G-protein signaling 3							76.0	64.0	68.0					9																	116346483		2203	4300	6503	SO:0001819	synonymous_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346483C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2791C>T	9.37:g.116346483C>T						RGS3_ENST00000350696.5_Silent_p.L931L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Silent_p.L252L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Silent_p.L650L|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Silent_p.L252L	p.L931L	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			21	3000	+			931					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.2791C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.489053	0.64074	.	.	ENSG00000138835	ENST00000474719	.	.	.	5.42	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0126	0.30361	0.0:0.8088:0.0:0.1912	.	.	.	.	.	-1	.	.	.	+	.	.	RGS3	115386304	0.970000	0.33590	0.986000	0.45419	0.970000	0.65996	2.313000	0.43735	1.238000	0.43771	0.555000	0.69702	.		0.672	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		26	36	0	0	0	1	0	26	36				
GUCY1A2	2977	broad.mit.edu	37	11	106849401	106849401	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:106849401T>G	ENST00000526355.2	-	3	899	c.431A>C	c.(430-432)aAc>aCc	p.N144T	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.N144T|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.N144T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	144					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTCTTCTTTGTTGGAGTGGTC	0.328																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(430-432)aAc>aCc		guanylate cyclase 1, soluble, alpha 2							123.0	119.0	121.0					11																	106849401		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106849401T>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.431A>C	11.37:g.106849401T>G	ENSP00000431245:p.Asn144Thr					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.N144T|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.N144T	p.N144T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	3	899	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	144					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.431A>C	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	T	8.255	0.809908	0.16537	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86366	-1.79;-2.11;-1.78	5.73	2.15	0.27550	.	0.323033	0.21758	U	0.069572	T	0.76849	0.4045	N	0.25647	0.755	0.29025	N	0.886081	B;B;B	0.24317	0.101;0.025;0.101	B;B;B	0.31946	0.138;0.012;0.138	T	0.62191	-0.6906	10	0.12766	T	0.61	.	7.9021	0.29740	0.0:0.3621:0.0:0.6379	.	144;144;144	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	T	144	ENSP00000431245:N144T;ENSP00000282249:N144T;ENSP00000344874:N144T	ENSP00000282249:N144T	N	-	2	0	GUCY1A2	106354611	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	0.855000	0.27805	0.537000	0.28751	-0.274000	0.10170	AAC		0.328	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			19	32	0	0	0	1	0	19	32				
NCAPG2	54892	broad.mit.edu	37	7	158455046	158455046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158455046G>A	ENST00000409423.1	-	17	2001	c.1829C>T	c.(1828-1830)aCa>aTa	p.T610I	NCAPG2_ENST00000541468.1_Missense_Mutation_p.T111I|NCAPG2_ENST00000356309.3_Missense_Mutation_p.T610I|NCAPG2_ENST00000409339.3_Missense_Mutation_p.T610I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T610I|NCAPG2_ENST00000275830.10_Missense_Mutation_p.T402I	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	610					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TACTGACAGTGTTTTGTCCAG	0.343																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1828-1830)aCa>aTa		non-SMC condensin II complex, subunit G2							73.0	70.0	71.0					7																	158455046		1825	4084	5909	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158455046G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1829C>T	7.37:g.158455046G>A	ENSP00000386569:p.Thr610Ile					NCAPG2_ENST00000356309.3_Missense_Mutation_p.T610I|NCAPG2_ENST00000275830.10_Missense_Mutation_p.T402I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T610I|NCAPG2_ENST00000541468.1_Missense_Mutation_p.T111I|NCAPG2_ENST00000409423.1_Missense_Mutation_p.T610I	p.T610I			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	16	1942	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	610					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1829C>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.183|7.183	0.589973|0.589973	0.13812|0.13812	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000441982|ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	.|T;T;T;T;T;T	.|0.32515	.|1.47;1.46;1.46;1.46;1.45;1.45	6.17|6.17	3.42|3.42	0.39159|0.39159	.|.	.|0.400598	.|0.27109	.|N	.|0.020900	T|T	0.24122|0.24122	0.0584|0.0584	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.34372	.|0.274;0.451;0.179	.|B;B;B	.|0.30029	.|0.11;0.07;0.051	T|T	0.12941|0.12941	-1.0528|-1.0528	5|10	.|0.30854	.|T	.|0.27	-13.4406|-13.4406	6.2143|6.2143	0.20646|0.20646	0.4223:0.0:0.5777:0.0|0.4223:0.0:0.5777:0.0	.|.	.|610;402;610	.|Q86XI2-2;E7EUH9;Q86XI2	.|.;.;CNDG2_HUMAN	Y|I	412|111;610;610;402;610;610	.|ENSP00000442337:T111I;ENSP00000348657:T610I;ENSP00000386569:T610I;ENSP00000275830:T402I;ENSP00000387007:T610I;ENSP00000388326:T610I	.|ENSP00000275830:T402I	H|T	-|-	1|2	0|0	NCAPG2|NCAPG2	158147807|158147807	0.998000|0.998000	0.40836|0.40836	0.043000|0.043000	0.18650|0.18650	0.152000|0.152000	0.21847|0.21847	3.036000|3.036000	0.49767|0.49767	0.945000|0.945000	0.37605|0.37605	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.343	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		9	89	0	0	0	1	0	9	89				
PITPNB	23760	broad.mit.edu	37	22	28306976	28306976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28306976G>A	ENST00000335272.5	-	3	249	c.173C>T	c.(172-174)aCg>aTg	p.T58M	PITPNB_ENST00000320996.10_Missense_Mutation_p.T58M|PITPNB_ENST00000455418.3_Missense_Mutation_p.T60M	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	58					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						AATTTTGTGCGTATACTGTCC	0.398																																						ENST00000335272.5																			0				large_intestine(4)|lung(3)|skin(1)	8						c.(172-174)aCg>aTg		phosphatidylinositol transfer protein, beta							285.0	218.0	241.0					22																	28306976		2203	4300	6503	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28306976G>A	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.173C>T	22.37:g.28306976G>A	ENSP00000334738:p.Thr58Met					PITPNB_ENST00000455418.3_Missense_Mutation_p.T60M|PITPNB_ENST00000320996.10_Missense_Mutation_p.T58M	p.T58M	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN			3	249	-			58					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.173C>T	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966999	0.92855	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000436663	T;T;T;T	0.61627	0.47;0.47;0.47;0.09	6.17	6.17	0.99709	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85375	0.5682	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.88995	0.3417	10	0.87932	D	0	-17.1183	19.8676	0.96824	0.0:0.0:1.0:0.0	.	60;58;58	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	M	58;58;60;60	ENSP00000334738:T58M;ENSP00000321266:T58M;ENSP00000405179:T60M;ENSP00000403675:T60M	ENSP00000321266:T58M	T	-	2	0	PITPNB	26636976	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.810000	0.99221	2.941000	0.99782	0.655000	0.94253	ACG		0.398	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			29	64	0	0	0	1	0	29	64				
DIDO1	11083	broad.mit.edu	37	20	61512503	61512503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61512503C>A	ENST00000266070.4	-	16	5130	c.4805G>T	c.(4804-4806)gGc>gTc	p.G1602V	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1602V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1602					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGCGCCTGGCCCACGAGGCC	0.701																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4804-4806)gGc>gTc		death inducer-obliterator 1							8.0	10.0	9.0					20																	61512503		1880	3828	5708	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512503C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4805G>T	20.37:g.61512503C>A	ENSP00000266070:p.Gly1602Val					DIDO1_ENST00000395343.1_Missense_Mutation_p.G1602V	p.G1602V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5130	-	Breast(26;5.68e-08)		1602					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4805G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979945	0.18812	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	4.66	-3.24	0.05094	.	1.979650	0.02963	N	0.143444	T	0.05960	0.0155	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39014	-0.9634	10	0.28530	T	0.3	-0.1482	9.2008	0.37258	0.4978:0.189:0.3132:0.0	.	1602	Q9BTC0	DIDO1_HUMAN	V	1602	ENSP00000266070:G1602V;ENSP00000378752:G1602V	ENSP00000266070:G1602V	G	-	2	0	DIDO1	60982948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.102000	0.10956	-1.031000	0.03308	-0.175000	0.13238	GGC		0.701	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	11	1	0	0.014758	1	0.0152625	4	11				
ARHGEF10L	55160	broad.mit.edu	37	1	17949529	17949529	+	Silent	SNP	G	G	A	rs538201979		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17949529G>A	ENST00000361221.3	+	12	1218	c.1059G>A	c.(1057-1059)gcG>gcA	p.A353A	ARHGEF10L_ENST00000434513.1_Silent_p.A353A|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.A131A|ARHGEF10L_ENST00000375420.3_Silent_p.A111A|ARHGEF10L_ENST00000375408.3_Silent_p.A131A|ARHGEF10L_ENST00000375415.1_Silent_p.A314A|ARHGEF10L_ENST00000452522.1_Silent_p.A314A	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	353	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCCAAGGCGCTGAGCGCCC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16361	0.001		0.0	False		,,,				2504	0.0					ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1057-1059)gcG>gcA		Rho guanine nucleotide exchange factor (GEF) 10-like							69.0	63.0	65.0					1																	17949529		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17949529G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1059G>A	1.37:g.17949529G>A						ARHGEF10L_ENST00000452522.1_Silent_p.A314A|ARHGEF10L_ENST00000375420.3_Silent_p.A111A|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.A314A|ARHGEF10L_ENST00000375408.3_Silent_p.A131A|ARHGEF10L_ENST00000434513.1_Silent_p.A353A|ARHGEF10L_ENST00000167825.4_Silent_p.A131A	p.A353A	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	12	1218	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	353			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1059G>A	CCDS182.1																																																																																				0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		14	25	0	0	0	1	0	14	25				
AKT2	208	broad.mit.edu	37	19	40744860	40744860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40744860C>T	ENST00000392038.2	-	8	958	c.660G>A	c.(658-660)caG>caA	p.Q220Q	AKT2_ENST00000579047.1_Silent_p.Q158Q|AKT2_ENST00000424901.1_Silent_p.Q220Q|AKT2_ENST00000311278.6_Silent_p.Q220Q	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTCGTGGGTCTGGAAGGCAT	0.652			A		"""ovarian, pancreatic """																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(658-660)caG>caA		v-akt murine thymoma viral oncogene homolog 2							94.0	89.0	91.0					19																	40744860		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40744860C>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.660G>A	19.37:g.40744860C>T						AKT2_ENST00000311278.6_Silent_p.Q220Q|AKT2_ENST00000579047.1_Silent_p.Q158Q|AKT2_ENST00000424901.1_Silent_p.Q220Q	p.Q220Q	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		8	958	-			220			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.660G>A	CCDS12552.1																																																																																				0.652	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		26	33	0	0	0	1	0	26	33				
NANOS2	339345	broad.mit.edu	37	19	46417658	46417658	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417658A>G	ENST00000341294.2	-	1	378	c.294T>C	c.(292-294)tgT>tgC	p.C98C		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	98					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CGCACACGGGACACACGTAGT	0.652																																						ENST00000341294.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(292-294)tgT>tgC		nanos homolog 2 (Drosophila)							69.0	60.0	63.0					19																	46417658		2203	4300	6503	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417658A>G	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.294T>C	19.37:g.46417658A>G							p.C98C	NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	378	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	98					Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.294T>C	CCDS33056.1																																																																																				0.652	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			4	23	0	0	0	1	0	4	23				
CHRNA3	1136	broad.mit.edu	37	15	78894311	78894311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78894311C>T	ENST00000326828.5	-	5	1057	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E225K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	225					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	TAGATCTCCTCGCAGCAGTTG	0.547																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(673-675)Gag>Aag		cholinergic receptor, nicotinic, alpha 3 (neuronal)							198.0	165.0	176.0					15																	78894311		2196	4293	6489	SO:0001583	missense	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894311C>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.673G>A	15.37:g.78894311C>T	ENSP00000315602:p.Glu225Lys					CHRNA3_ENST00000348639.3_Missense_Mutation_p.E225K	p.E225K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1057	-			225					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.673G>A	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970158	0.92855	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.78707	-1.2;-1.2	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046962	0.85682	D	0.000000	D	0.82688	0.5091	L	0.48642	1.525	0.80722	D	1	D;D	0.65815	0.993;0.995	P;P	0.56700	0.804;0.771	T	0.80160	-0.1498	10	0.37606	T	0.19	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225;225	P32297;P32297-3	ACHA3_HUMAN;.	K	225;225;89	ENSP00000267951:E225K;ENSP00000315602:E225K	ENSP00000315602:E225K	E	-	1	0	CHRNA3	76681366	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.811000	0.86092	2.793000	0.96121	0.655000	0.94253	GAG		0.547	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			3	29	0	0	0	1	0	3	29				
CHD3	1107	broad.mit.edu	37	17	7803351	7803351	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7803351G>T	ENST00000330494.7	+	16	2832	c.2682G>T	c.(2680-2682)aaG>aaT	p.K894N	CHD3_ENST00000358181.4_Splice_Site_p.K894N|CHD3_ENST00000380358.4_Splice_Site_p.K953N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	894	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAGTCCAAGGTGAGTGAGG	0.473																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.e16+1		chromodomain helicase DNA binding protein 3							73.0	66.0	68.0					17																	7803351		2203	4300	6503	SO:0001630	splice_region_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7803351G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2682+1G>T	17.37:g.7803351G>T						CHD3_ENST00000358181.4_Splice_Site_p.K894_splice|CHD3_ENST00000330494.7_Splice_Site_p.K894_splice	p.K953_splice	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			16	2860	+		Prostate(122;0.202)	894					D3DTQ9|E9PG89|Q9Y4I0	Splice_Site	SNP	ENST00000330494.7	37	c.2859_splice	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945013	0.53079	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93247	-3.19;-3.19;-3.19	5.4	5.4	0.78164	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.48767	D	0.000177	D	0.96106	0.8731	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.95806	0.8837	10	0.87932	D	0	-35.0358	11.4405	0.50094	0.0893:0.0:0.9107:0.0	.	894;894;953	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	953;894;894	ENSP00000369716:K953N;ENSP00000350907:K894N;ENSP00000332628:K894N	ENSP00000332628:K894N	K	+	3	2	CHD3	7744076	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.685000	0.61693	2.813000	0.96785	0.561000	0.74099	AAG		0.473	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	Missense_Mutation	13	15	1	0	4.3838e-07	1	5.12524e-07	13	15				
CDC45	8318	broad.mit.edu	37	22	19484966	19484966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19484966C>A	ENST00000407835.1	+	9	905	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	CDC45_ENST00000263201.1_Missense_Mutation_p.L217M|CDC45_ENST00000404724.3_Missense_Mutation_p.L171M|CDC45_ENST00000437685.2_Missense_Mutation_p.L249M			O75419	CDC45_HUMAN	cell division cycle 45	217					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAATGACATGCTGTGGTACGT	0.547																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(649-651)Ctg>Atg		cell division cycle 45							226.0	171.0	190.0					22																	19484966		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19484966C>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.649C>A	22.37:g.19484966C>A	ENSP00000385240:p.Leu217Met					CDC45_ENST00000404724.3_Missense_Mutation_p.L171M|CDC45_ENST00000437685.2_Missense_Mutation_p.L249M|CDC45_ENST00000263201.1_Missense_Mutation_p.L217M	p.L217M			O75419	CDC45_HUMAN			9	905	+			217					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.649C>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971887	0.74246	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.51	2.18	0.27775	.	0.091205	0.51477	D	0.000086	T	0.73140	0.3549	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.73004	-0.4119	10	0.72032	D	0.01	-14.1393	7.9289	0.29891	0.0:0.5277:0.0:0.4723	.	249;212;171;249;217	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	M	217;249;217;171	ENSP00000385240:L217M;ENSP00000405726:L249M;ENSP00000263201:L217M;ENSP00000384978:L171M	ENSP00000263201:L217M	L	+	1	2	CDC45	17864966	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	1.164000	0.31810	0.613000	0.30089	0.655000	0.94253	CTG		0.547	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		40	51	1	0	3.78316e-11	1	4.70432e-11	40	51				
OR11A1	26531	broad.mit.edu	37	6	29394836	29394836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29394836C>T	ENST00000377149.1	-	5	1055	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.V195M|OR11A1_ENST00000377148.1_Missense_Mutation_p.V195M			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						ACCTGAGCCACTCTGGGATCC	0.522																																						ENST00000377149.1																			0				cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(583-585)Gtg>Atg		olfactory receptor, family 11, subfamily A, member 1							51.0	50.0	50.0					6																	29394836		1509	2707	4216	SO:0001583	missense	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394836C>T		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.583G>A	6.37:g.29394836C>T	ENSP00000366354:p.Val195Met					OR11A1_ENST00000377148.1_Missense_Mutation_p.V195M|OR11A1_ENST00000377147.2_Missense_Mutation_p.V195M|OR5V1_ENST00000377154.1_Intron	p.V195M			Q9GZK7	O11A1_HUMAN			5	1055	-			195					A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.583G>A	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	C	5.048	0.194472	0.09599	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00174	8.62;8.62;8.62	3.81	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	2.522180	0.02324	N	0.073230	T	0.00073	0.0002	L	0.54908	1.71	0.09310	N	1	B	0.25272	0.122	B	0.30029	0.11	T	0.52238	-0.8602	10	0.18710	T	0.47	-4.8299	8.5726	0.33578	0.0:0.8047:0.0:0.1953	.	195	Q9GZK7	O11A1_HUMAN	M	195	ENSP00000366353:V195M;ENSP00000366354:V195M;ENSP00000366352:V195M	ENSP00000366352:V195M	V	-	1	0	OR11A1	29502815	0.000000	0.05858	0.605000	0.28930	0.274000	0.26718	-3.127000	0.00592	0.283000	0.22279	0.411000	0.27672	GTG		0.522	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			4	31	0	0	0	1	0	4	31				
TRHR	7201	broad.mit.edu	37	8	110099767	110099767	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110099767T>G	ENST00000518632.1	+	2	377	c.26T>G	c.(25-27)cTg>cGg	p.L9R	TRHR_ENST00000311762.2_Missense_Mutation_p.L9R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	9					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTCAGTGAACTGAACCAAACA	0.458																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(25-27)cTg>cGg		thyrotropin-releasing hormone receptor							94.0	83.0	87.0					8																	110099767		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110099767T>G		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.26T>G	8.37:g.110099767T>G	ENSP00000430711:p.Leu9Arg					TRHR_ENST00000311762.2_Missense_Mutation_p.L9R	p.L9R			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	377	+			9					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.26T>G	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	10.00	1.233142	0.22626	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.66995	-0.24;-0.24	5.7	4.48	0.54585	.	0.834070	0.11115	N	0.598133	T	0.54581	0.1867	L	0.44542	1.39	0.32258	N	0.570571	B	0.02656	0.0	B	0.04013	0.001	T	0.54970	-0.8213	10	0.25751	T	0.34	-0.7748	5.8118	0.18469	0.2279:0.0:0.1381:0.634	.	9	P34981	TRFR_HUMAN	R	9	ENSP00000430711:L9R;ENSP00000309818:L9R	ENSP00000309818:L9R	L	+	2	0	TRHR	110168943	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.209000	0.42806	2.183000	0.69458	0.533000	0.62120	CTG		0.458	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			5	41	0	0	0	1	0	5	41				
VAV3	10451	broad.mit.edu	37	1	108116774	108116774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108116774G>T	ENST00000370056.4	-	26	2671	c.2397C>A	c.(2395-2397)ttC>ttA	p.F799L	VAV3_ENST00000527011.1_Missense_Mutation_p.F827L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Missense_Mutation_p.F203L|VAV3_ENST00000415432.2_Missense_Mutation_p.F239L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	799	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCTTGCACAGAAGTCATACC	0.428																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(2395-2397)ttC>ttA		vav 3 guanine nucleotide exchange factor							206.0	181.0	190.0					1																	108116774		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108116774G>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2397C>A	1.37:g.108116774G>T	ENSP00000359073:p.Phe799Leu					VAV3_ENST00000415432.2_Missense_Mutation_p.F239L|VAV3_ENST00000544443.1_Missense_Mutation_p.F203L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.F827L	p.F799L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	26	2671	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	799			SH3 2.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.2397C>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535299	0.85812	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T;T;T;T	0.56941	0.43;2.06;0.43;0.43	6.03	3.75	0.43078	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.992;0.986;0.984	T	0.66508	-0.5906	10	0.72032	D	0.01	.	13.1722	0.59604	0.1579:0.0:0.8421:0.0	.	827;231;799;239	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	L	799;827;203;239	ENSP00000359073:F799L;ENSP00000432540:F827L;ENSP00000446404:F203L;ENSP00000394897:F239L	ENSP00000359073:F799L	F	-	3	2	VAV3	107918297	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.152000	0.58111	1.459000	0.47892	-0.345000	0.07892	TTC		0.428	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		13	141	1	0	1.05317e-09	1	1.28483e-09	13	141				
SPTBN4	57731	broad.mit.edu	37	19	41009792	41009792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41009792C>T	ENST00000352632.3	+	12	1504	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A473V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A473V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	473					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAACACGAAGCGATCGAGGCA	0.627																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1417-1419)gCg>gTg		spectrin, beta, non-erythrocytic 4							45.0	41.0	43.0					19																	41009792		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009792C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1418C>T	19.37:g.41009792C>T	ENSP00000263373:p.Ala473Val					SPTBN4_ENST00000595535.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A473V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A473V	p.A473V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1504	+			473					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1418C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.334463	0.81801	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.53640	0.61;0.61;0.61	3.88	3.88	0.44766	.	0.000000	0.64402	U	0.000011	T	0.70535	0.3235	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.78314	0.866;0.991	T	0.76881	-0.2795	10	0.62326	D	0.03	.	14.7555	0.69560	0.0:1.0:0.0:0.0	.	473;473	Q9H254;Q71S06	SPTN4_HUMAN;.	V	473	ENSP00000263373:A473V;ENSP00000340345:A473V;ENSP00000340741:A473V	ENSP00000340345:A473V	A	+	2	0	SPTBN4	45701632	1.000000	0.71417	0.817000	0.32601	0.613000	0.37349	7.595000	0.82710	2.003000	0.58678	0.486000	0.48141	GCG		0.627	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	24	0	0	0	1	0	4	24				
DST	667	broad.mit.edu	37	6	56468377	56468377	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468377T>G	ENST00000361203.3	-	37	10300	c.10293A>C	c.(10291-10293)caA>caC	p.Q3431H	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.Q3431H|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.Q3431H|DST_ENST00000446842.2_Missense_Mutation_p.Q3105H|DST_ENST00000370754.5_Missense_Mutation_p.Q3609H			Q03001	DYST_HUMAN	dystonin	3431					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGTCTAAGTTGATTCTTCA	0.388																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(10825-10827)caA>caC		dystonin							267.0	263.0	264.0					6																	56468377		876	1991	2867	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56468377T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10293A>C	6.37:g.56468377T>G	ENSP00000354508:p.Gln3431His					DST_ENST00000312431.6_Missense_Mutation_p.Q3431H|DST_ENST00000370769.4_Missense_Mutation_p.Q3431H|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.Q3431H|DST_ENST00000446842.2_Missense_Mutation_p.Q3105H	p.Q3609H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		40	10826	-	Lung NSC(77;0.103)		3431					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.10827A>C		.	.	.	.	.	.	.	.	.	.	T	9.803	1.181140	0.21787	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.19	-1.71	0.08133	.	0.000000	0.45126	D	0.000391	T	0.36991	0.0987	.	.	.	0.32732	N	0.508842	.	.	.	.	.	.	T	0.37126	-0.9719	6	0.40728	T	0.16	.	11.2338	0.48929	0.0:0.4579:0.0:0.5421	.	.	.	.	H	3609;3431;3105;3431;3431	ENSP00000359790:Q3609H;ENSP00000359805:Q3431H;ENSP00000393645:Q3105H;ENSP00000307959:Q3431H;ENSP00000354508:Q3431H	ENSP00000307959:Q3431H	Q	-	3	2	DST	56576336	0.976000	0.34144	0.092000	0.20876	0.545000	0.35147	0.119000	0.15626	-0.456000	0.07043	-0.408000	0.06270	CAA		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		24	182	0	0	0	1	0	24	182				
MBTPS2	51360	broad.mit.edu	37	X	21900676	21900676	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21900676A>G	ENST00000379484.5	+	11	1562	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	488					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAGACAATGATGTCAAAGAT	0.453																																						ENST00000379484.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(1462-1464)gAt>gGt		membrane-bound transcription factor peptidase, site 2							256.0	228.0	238.0					X																	21900676		2203	4300	6503	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21900676A>G	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1463A>G	X.37:g.21900676A>G	ENSP00000368798:p.Asp488Gly						p.D488G	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN			11	1562	+			488					Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.1463A>G	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.848175	0.51164	.	.	ENSG00000012174	ENST00000379484	D	0.92348	-3.02	5.97	5.97	0.96955	Peptidase M50 (1);	0.217888	0.48767	D	0.000180	D	0.86653	0.5984	L	0.34521	1.04	0.80722	D	1	B	0.33777	0.425	B	0.28385	0.089	D	0.84688	0.0721	10	0.25106	T	0.35	-25.9393	15.3561	0.74428	1.0:0.0:0.0:0.0	.	488	O43462	MBTP2_HUMAN	G	488	ENSP00000368798:D488G	ENSP00000368798:D488G	D	+	2	0	MBTPS2	21810597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.988000	0.76212	2.011000	0.59026	0.437000	0.28790	GAT		0.453	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			64	110	0	0	0	1	0	64	110				
TLR10	81793	broad.mit.edu	37	4	38776289	38776289	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776289T>C	ENST00000308973.4	-	4	1528	c.923A>G	c.(922-924)cAt>cGt	p.H308R	TLR10_ENST00000508334.1_Missense_Mutation_p.H308R|TLR10_ENST00000506111.1_Missense_Mutation_p.H308R|TLR10_ENST00000361424.2_Missense_Mutation_p.H308R|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	308					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACTCTGAAATGTACATGCTC	0.343																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(922-924)cAt>cGt		toll-like receptor 10							88.0	90.0	90.0					4																	38776289		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776289T>C	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.923A>G	4.37:g.38776289T>C	ENSP00000308925:p.His308Arg					TLR10_ENST00000361424.2_Missense_Mutation_p.H308R|TLR10_ENST00000506111.1_Missense_Mutation_p.H308R|TLR10_ENST00000508334.1_Missense_Mutation_p.H308R	p.H308R	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1528	-			308					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.923A>G	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	T	1.244	-0.620628	0.03636	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.13	2.56	0.30785	.	0.441402	0.16854	N	0.196801	T	0.67748	0.2926	L	0.33137	0.985	0.09310	N	1	B	0.16802	0.019	B	0.23275	0.045	T	0.50874	-0.8776	10	0.06625	T	0.88	.	5.6402	0.17559	0.0:0.1363:0.1661:0.6976	.	308	Q9BXR5	TLR10_HUMAN	R	308	ENSP00000308925:H308R;ENSP00000421483:H308R;ENSP00000354459:H308R;ENSP00000424923:H308R	ENSP00000308925:H308R	H	-	2	0	TLR10	38452684	0.000000	0.05858	0.947000	0.38551	0.707000	0.40811	-0.630000	0.05502	1.936000	0.56123	0.477000	0.44152	CAT		0.343	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			6	82	0	0	0	1	0	6	82				
SORBS2	8470	broad.mit.edu	37	4	186536109	186536109	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536109A>T	ENST00000284776.7	-	17	3268	c.2759T>A	c.(2758-2760)cTc>cAc	p.L920H	SORBS2_ENST00000449407.2_Missense_Mutation_p.L464H|SORBS2_ENST00000355634.5_Missense_Mutation_p.L1020H|SORBS2_ENST00000393528.3_Missense_Mutation_p.L486H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000437304.2_Missense_Mutation_p.L644H|SORBS2_ENST00000418609.1_Missense_Mutation_p.L824H|SORBS2_ENST00000319471.9_Missense_Mutation_p.L551H|SORBS2_ENST00000448662.2_Missense_Mutation_p.L481H|SORBS2_ENST00000431808.1_Missense_Mutation_p.L920H	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	920	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGGTGTGAGTTTCTATGA	0.493																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2758-2760)cTc>cAc		sorbin and SH3 domain containing 2							170.0	177.0	175.0					4																	186536109		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186536109A>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2759T>A	4.37:g.186536109A>T	ENSP00000284776:p.Leu920His					SORBS2_ENST00000418609.1_Missense_Mutation_p.L824H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.L551H|SORBS2_ENST00000284776.7_Missense_Mutation_p.L920H|SORBS2_ENST00000393528.3_Missense_Mutation_p.L486H|SORBS2_ENST00000449407.2_Missense_Mutation_p.L464H|SORBS2_ENST00000355634.5_Missense_Mutation_p.L1020H|SORBS2_ENST00000437304.2_Missense_Mutation_p.L644H|SORBS2_ENST00000448662.2_Missense_Mutation_p.L481H	p.L920H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	18	3322	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	920			SH3 1.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2759T>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498590	0.64298	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	6.16	6.16	0.99307	Src homology-3 domain (3);	0.238556	0.43747	D	0.000539	T	0.67664	0.2917	M	0.88450	2.955	0.58432	D	0.99999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.984;0.994;0.994;0.999;0.998;0.999;0.992;0.992;0.989;0.994;0.973;0.999;0.998	T	0.74090	-0.3777	10	0.87932	D	0	-25.4466	16.8061	0.85666	1.0:0.0:0.0:0.0	.	486;481;824;312;369;511;1020;920;464;644;481;511;465;486	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	H	920;481;920;824;644;551;464;1020;486;511;269	ENSP00000284776:L920H;ENSP00000409158:L481H;ENSP00000411764:L920H;ENSP00000397482:L824H;ENSP00000396008:L644H;ENSP00000322182:L551H;ENSP00000397262:L464H;ENSP00000347852:L1020H;ENSP00000377162:L486H;ENSP00000321983:L511H;ENSP00000401818:L269H	ENSP00000284776:L920H	L	-	2	0	SORBS2	186773103	1.000000	0.71417	0.964000	0.40570	0.030000	0.12068	6.938000	0.75904	2.367000	0.80283	0.528000	0.53228	CTC		0.493	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	99	0	0	0	1	0	7	99				
DHX9	1660	broad.mit.edu	37	1	182827295	182827295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182827295C>A	ENST00000367549.3	+	8	840	c.730C>A	c.(730-732)Ctg>Atg	p.L244M		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	244	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with BRCA1.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTCCTGTGCCCTGTCACTTGT	0.408																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(730-732)Ctg>Atg		DEAH (Asp-Glu-Ala-His) box helicase 9							99.0	94.0	95.0					1																	182827295		1983	4177	6160	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182827295C>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.730C>A	1.37:g.182827295C>A	ENSP00000356520:p.Leu244Met						p.L244M	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			8	840	+			244			DRBM 2.|Interaction with BRCA1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.730C>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034792	0.75617	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.76709	-1.04	5.25	5.25	0.73442	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.64402	D	0.000003	D	0.86456	0.5937	M	0.75150	2.29	0.58432	D	0.999997	D	0.63046	0.992	D	0.71414	0.973	D	0.86949	0.2084	10	0.56958	D	0.05	.	13.2008	0.59767	0.0:0.9219:0.0:0.0781	.	244	Q08211	DHX9_HUMAN	M	244	ENSP00000356520:L244M	ENSP00000356520:L244M	L	+	1	2	DHX9	181093918	0.992000	0.36948	0.999000	0.59377	0.996000	0.88848	2.899000	0.48679	2.610000	0.88304	0.591000	0.81541	CTG		0.408	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		27	62	1	0	6.32553e-13	1	7.99037e-13	27	62				
PCDHGA6	56109	broad.mit.edu	37	5	140754977	140754977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140754977G>A	ENST00000517434.1	+	1	1327	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	443	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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAAATGTGGCAGACACCAA	0.498																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1327-1329)Gca>Aca									133.0	145.0	141.0					5																	140754977		2124	4258	6382	SO:0001583	missense	0							g.chr5:140754977G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1327G>A	5.37:g.140754977G>A	ENSP00000429601:p.Ala443Thr					PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A443T	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1327	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1327G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.679992	0.29783	.	.	ENSG00000253731	ENST00000517434	T	0.58060	0.36	5.13	4.26	0.50523	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.277786	0.18582	U	0.137007	T	0.36413	0.0966	N	0.25094	0.71	0.21822	N	0.999522	B;B	0.22983	0.063;0.078	B;B	0.26770	0.073;0.05	T	0.10019	-1.0648	10	0.33940	T	0.23	.	8.4458	0.32841	0.08:0.0:0.6631:0.2569	.	443;443	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	T	443	ENSP00000429601:A443T	ENSP00000429601:A443T	A	+	1	0	PCDHGA6	140735161	0.001000	0.12720	1.000000	0.80357	0.882000	0.50991	0.328000	0.19681	2.826000	0.97356	0.655000	0.94253	GCA		0.498	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		9	105	0	0	0	1	0	9	105				
PGAM4	441531	broad.mit.edu	37	X	77224501	77224501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77224501G>T	ENST00000458128.1	-	1	634	c.635C>A	c.(634-636)aCt>aAt	p.T212N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	212					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						GGGAATACCAGTCGGCAGGTT	0.512																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(634-636)aCt>aAt		phosphoglycerate mutase family member 4							99.0	95.0	96.0					X																	77224501		2203	4292	6495	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224501G>T	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.635C>A	X.37:g.77224501G>T	ENSP00000412189:p.Thr212Asn					ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	p.T212N	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	634	-			212					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.635C>A	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373650	0.24857	.	.	ENSG00000226784	ENST00000458128	T	0.77877	-1.13	0.119	0.119	0.14685	.	0.133949	0.49916	U	0.000138	T	0.73187	0.3555	M	0.83483	2.645	0.50632	D	0.999884	B	0.18310	0.027	B	0.20184	0.028	T	0.63269	-0.6675	9	.	.	.	-16.2161	6.135	0.20227	4.0E-4:0.0:0.9996:0.0	.	212	Q8N0Y7	PGAM4_HUMAN	N	212	ENSP00000412189:T212N	.	T	-	2	0	PGAM4	77111157	1.000000	0.71417	0.373000	0.26003	0.378000	0.30076	6.482000	0.73613	0.260000	0.21731	0.264000	0.19307	ACT		0.512	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		7	148	1	0	9.70103e-10	1	1.18443e-09	7	148				
TPRG1L	127262	broad.mit.edu	37	1	3545130	3545130	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3545130T>C	ENST00000378344.2	+	5	853	c.782T>C	c.(781-783)cTg>cCg	p.L261P	TPRG1L_ENST00000344579.5_Missense_Mutation_p.L202P	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	261						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAGGCGAAACTGGGCTACTCC	0.602																																						ENST00000378344.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8						c.(781-783)cTg>cCg		tumor protein p63 regulated 1-like							69.0	62.0	65.0					1																	3545130		2203	4299	6502	SO:0001583	missense	127262					cell junction|synaptic vesicle		g.chr1:3545130T>C	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.782T>C	1.37:g.3545130T>C	ENSP00000367595:p.Leu261Pro					TPRG1L_ENST00000344579.5_Missense_Mutation_p.L202P	p.L261P	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	5	853	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	261					A8K1K4|Q8WV04	Missense_Mutation	SNP	ENST00000378344.2	37	c.782T>C	CCDS47.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209082	0.58343	.	.	ENSG00000158109	ENST00000378344;ENST00000456805;ENST00000344579	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.83688	0.0175	9	0.87932	D	0	0.3601	14.4179	0.67163	0.0:0.0:0.0:1.0	.	202;261	Q5T0D9-2;Q5T0D9	.;TPRGL_HUMAN	P	261;218;202	.	ENSP00000339714:L202P	L	+	2	0	TPRG1L	3534990	1.000000	0.71417	0.911000	0.35937	0.102000	0.19082	7.665000	0.83852	1.998000	0.58463	0.533000	0.62120	CTG		0.602	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		14	24	0	0	0	1	0	14	24				
FOCAD	54914	broad.mit.edu	37	9	20990276	20990276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20990276C>A	ENST00000380249.1	+	44	5523	c.5159C>A	c.(5158-5160)cCa>cAa	p.P1720Q	FOCAD_ENST00000338382.6_Missense_Mutation_p.P1720Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.P1156Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1720						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GGCAGGAGTCCAATGCACAGG	0.587																																						ENST00000380249.1																			0											c.(5158-5160)cCa>cAa		focadhesin							53.0	50.0	51.0					9																	20990276		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20990276C>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5159C>A	9.37:g.20990276C>A	ENSP00000369599:p.Pro1720Gln					FOCAD_ENST00000605086.1_Missense_Mutation_p.P1156Q|FOCAD_ENST00000338382.6_Missense_Mutation_p.P1720Q	p.P1720Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			44	5523	+			1720					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.5159C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513117	0.64522	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.27890	1.64;1.64	6.17	4.3	0.51218	.	0.459886	0.25414	N	0.030856	T	0.32164	0.0820	L	0.57536	1.79	0.26402	N	0.976403	P	0.39624	0.681	B	0.37650	0.255	T	0.16012	-1.0417	10	0.59425	D	0.04	-28.4562	13.5881	0.61944	0.1252:0.7548:0.12:0.0	.	1720	Q5VW36	K1797_HUMAN	Q	1720	ENSP00000369599:P1720Q;ENSP00000344307:P1720Q	ENSP00000344307:P1720Q	P	+	2	0	KIAA1797	20980276	0.004000	0.15560	0.996000	0.52242	0.999000	0.98932	1.432000	0.34936	0.895000	0.36342	0.655000	0.94253	CCA		0.587	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		4	25	1	0	0.00909568	1	0.00947522	4	25				
MEGF6	1953	broad.mit.edu	37	1	3428618	3428618	+	Missense_Mutation	SNP	C	C	T	rs186311246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3428618C>T	ENST00000356575.4	-	8	1154	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	MEGF6_ENST00000294599.4_Missense_Mutation_p.V205M	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	310	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTGACACACGCACTTGAAG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18878	0.0		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(928-930)Gtg>Atg		multiple EGF-like-domains 6							55.0	66.0	62.0					1																	3428618		2132	4210	6342	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3428618C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.928G>A	1.37:g.3428618C>T	ENSP00000348982:p.Val310Met					MEGF6_ENST00000294599.4_Missense_Mutation_p.V205M	p.V310M	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	8	1154	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	310			EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.928G>A	CCDS41237.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	C	9.887	1.203083	0.22121	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.92752	-3.1;-3.1	4.63	0.526	0.17078	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.528179	0.18760	N	0.131937	T	0.82079	0.4959	L	0.27053	0.805	0.26141	N	0.980285	P;P	0.41929	0.765;0.588	B;B	0.37198	0.243;0.197	T	0.73908	-0.3834	10	0.41790	T	0.15	-8.5111	4.8143	0.13358	0.0:0.4284:0.1537:0.4179	.	310;205	O75095;O75095-2	MEGF6_HUMAN;.	M	205;310	ENSP00000294599:V205M;ENSP00000348982:V310M	ENSP00000294599:V205M	V	-	1	0	MEGF6	3418478	0.001000	0.12720	0.939000	0.37840	0.262000	0.26303	0.164000	0.16542	0.047000	0.15862	0.491000	0.48974	GTG		0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		38	49	0	0	0	1	0	38	49				
PLK2	10769	broad.mit.edu	37	5	57751594	57751594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751594C>A	ENST00000274289.3	-	11	1697	c.1397G>T	c.(1396-1398)aGt>aTt	p.S466I	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	466					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCCCATGGTACTGTCTTCAAG	0.438																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1396-1398)aGt>aTt		polo-like kinase 2							77.0	80.0	79.0					5																	57751594		2202	4299	6501	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751594C>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1397G>T	5.37:g.57751594C>A	ENSP00000274289:p.Ser466Ile					PLK2_ENST00000502671.1_Intron	p.S466I	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	11	1697	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	466					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.1397G>T	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967436	0.34754	.	.	ENSG00000145632	ENST00000274289	T	0.67171	-0.25	5.88	5.88	0.94601	.	0.114438	0.85682	D	0.000000	T	0.60521	0.2275	L	0.40543	1.245	0.54753	D	0.999981	B	0.15141	0.012	B	0.12837	0.008	T	0.53906	-0.8372	10	0.18276	T	0.48	-20.3931	20.2422	0.98381	0.0:1.0:0.0:0.0	.	466	Q9NYY3	PLK2_HUMAN	I	466	ENSP00000274289:S466I	ENSP00000274289:S466I	S	-	2	0	PLK2	57787351	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.630000	0.54273	2.788000	0.95919	0.650000	0.86243	AGT		0.438	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		6	54	1	0	3.59834e-05	1	4.01776e-05	6	54				
CEP164	22897	broad.mit.edu	37	11	117280645	117280645	+	Missense_Mutation	SNP	G	G	A	rs200520898		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117280645G>A	ENST00000278935.3	+	30	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1354					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AACGGTGGACGACTTCCTGTT	0.587																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4060-4062)Gac>Aac		centrosomal protein 164kDa		G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	60.0	62.0	61.0		4060	3.3	1.0	11		61	4,8588	3.0+/-9.4	0,4,4292	yes	missense	CEP164	NM_014956.4	23	0,5,6492	AA,AG,GG		0.0466,0.0227,0.0385	probably-damaging	1354/1461	117280645	5,12989	2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280645G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4060G>A	11.37:g.117280645G>A	ENSP00000278935:p.Asp1354Asn					CEP164_ENST00000533706.1_3'UTR	p.D1354N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	4207	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1354					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4060G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602001	0.46423	2.27E-4	4.66E-4	ENSG00000110274	ENST00000278935	T	0.28255	1.62	4.4	3.35	0.38373	.	0.259238	0.27535	N	0.018926	T	0.19287	0.0463	L	0.50333	1.59	0.26284	N	0.978237	B;B	0.32350	0.366;0.366	B;B	0.17722	0.019;0.019	T	0.12889	-1.0530	10	0.39692	T	0.17	-11.3448	2.7669	0.05322	0.2339:0.2934:0.4727:0.0	.	1354;1349	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	N	1354	ENSP00000278935:D1354N	ENSP00000278935:D1354N	D	+	1	0	CEP164	116785855	0.980000	0.34600	0.989000	0.46669	0.615000	0.37417	2.265000	0.43311	2.006000	0.58801	0.561000	0.74099	GAC		0.587	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		37	71	0	0	0	1	0	37	71				
SNAPC4	6621	broad.mit.edu	37	9	139290161	139290161	+	Missense_Mutation	SNP	G	G	T	rs201209973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139290161G>T	ENST00000298532.2	-	3	607	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGGGTCTTCAGGGAGGGTTTT	0.567																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(238-240)cCt>cAt		small nuclear RNA activating complex, polypeptide 4, 190kDa							169.0	174.0	172.0					9																	139290161		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139290161G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.239C>A	9.37:g.139290161G>T	ENSP00000298532:p.Pro80His						p.P80H	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	3	607	-		Myeloproliferative disorder(178;0.0511)	80						Missense_Mutation	SNP	ENST00000298532.2	37	c.239C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565901	0.45694	.	.	ENSG00000165684	ENST00000298532	T	0.30714	1.52	5.29	5.29	0.74685	.	0.497281	0.19685	N	0.108413	T	0.52025	0.1709	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.46775	-0.9167	10	0.87932	D	0	-10.054	11.6101	0.51055	0.0849:0.0:0.9151:0.0	.	80	Q5SXM2	SNPC4_HUMAN	H	80	ENSP00000298532:P80H	ENSP00000298532:P80H	P	-	2	0	SNAPC4	138409982	1.000000	0.71417	0.600000	0.28864	0.457000	0.32468	5.506000	0.66993	2.473000	0.83533	0.655000	0.94253	CCT		0.567	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		11	200	1	0	0.00136819	1	0.00146042	11	200				
DHTKD1	55526	broad.mit.edu	37	10	12160831	12160831	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12160831A>G	ENST00000263035.4	+	15	2548	c.2486A>G	c.(2485-2487)gAc>gGc	p.D829G	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	829					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAGAAGCATGACTTTGCCATC	0.468																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2485-2487)gAc>gGc		dehydrogenase E1 and transketolase domain containing 1							149.0	150.0	150.0					10																	12160831		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160831A>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2486A>G	10.37:g.12160831A>G	ENSP00000263035:p.Asp829Gly						p.D829G	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2548	+		Renal(717;0.228)	829					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2486A>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	A	9.673	1.147148	0.21288	.	.	ENSG00000181192	ENST00000263035	T	0.05925	3.37	5.07	2.62	0.31277	.	0.344037	0.36519	N	0.002560	T	0.07279	0.0184	L	0.48174	1.505	0.25255	N	0.989649	B	0.23540	0.087	B	0.32090	0.14	T	0.27971	-1.0058	10	0.87932	D	0	-12.7049	5.6869	0.17807	0.5889:0.2711:0.1399:0.0	.	829	Q96HY7	DHTK1_HUMAN	G	829	ENSP00000263035:D829G	ENSP00000263035:D829G	D	+	2	0	DHTKD1	12200837	0.798000	0.28890	0.126000	0.21872	0.159000	0.22180	1.546000	0.36179	0.309000	0.22966	0.368000	0.22195	GAC		0.468	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		25	155	0	0	0	1	0	25	155				
KAT6B	23522	broad.mit.edu	37	10	76789241	76789241	+	Silent	SNP	C	C	T	rs147158118		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76789241C>T	ENST00000287239.4	+	18	5148	c.4659C>T	c.(4657-4659)agC>agT	p.S1553S	KAT6B_ENST00000372725.1_Silent_p.S1261S|KAT6B_ENST00000372714.1_Silent_p.S1261S|KAT6B_ENST00000372711.1_Silent_p.S1370S|KAT6B_ENST00000372724.1_Silent_p.S1261S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1553					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGGAGAGCAGCGAACAGGACG	0.527																																						ENST00000287239.4																			0											c.(4657-4659)agC>agT		K(lysine) acetyltransferase 6B		C		2,4404	4.2+/-10.8	0,2,2201	131.0	128.0	129.0		4659	-9.5	0.5	10	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	KAT6B	NM_012330.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1553/2074	76789241	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76789241C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4659C>T	10.37:g.76789241C>T						KAT6B_ENST00000372724.1_Silent_p.S1261S|KAT6B_ENST00000372711.1_Silent_p.S1370S|KAT6B_ENST00000372725.1_Silent_p.S1261S|KAT6B_ENST00000372714.1_Silent_p.S1261S	p.S1553S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	5148	+			1553					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	c.4659C>T	CCDS7345.1																																																																																				0.527	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		22	32	0	0	0	1	0	22	32				
KL	9365	broad.mit.edu	37	13	33634963	33634963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33634963G>A	ENST00000380099.3	+	4	1755	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	583	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCCCAGATCGCTTTACTCCA	0.507																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1747-1749)Gct>Act		klotho							168.0	144.0	152.0					13																	33634963		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33634963G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1747G>A	13.37:g.33634963G>A	ENSP00000369442:p.Ala583Thr					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	p.A583T	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1755	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	583			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1747G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169241	0.01660	.	.	ENSG00000133116	ENST00000380099	T	0.32515	1.45	5.44	-0.456	0.12190	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.497397	0.23916	N	0.043300	T	0.21145	0.0509	L	0.52126	1.63	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.29305	-1.0016	10	0.15499	T	0.54	-9.1585	7.2135	0.25947	0.1581:0.0:0.3425:0.4994	.	583	Q9UEF7	KLOT_HUMAN	T	583	ENSP00000369442:A583T	ENSP00000369442:A583T	A	+	1	0	KL	32532963	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.249000	0.18216	-0.249000	0.09569	-1.119000	0.02030	GCT		0.507	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			37	38	0	0	0	1	0	37	38				
MROH8	140699	broad.mit.edu	37	20	35748188	35748188	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35748188G>T	ENST00000400441.3	-	18	2282	c.2283C>A	c.(2281-2283)cgC>cgA	p.R761R	MROH8_ENST00000441008.2_Silent_p.R747R|MROH8_ENST00000217333.8_Silent_p.R590R			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	330																	AGTCTTTAAAGCGGGCAACAG	0.498																																						ENST00000400441.3																			0											c.(2281-2283)cgC>cgA		maestro heat-like repeat family member 8							88.0	89.0	89.0					20																	35748188		1947	4155	6102	SO:0001819	synonymous_variant	140699							g.chr20:35748188G>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2283C>A	20.37:g.35748188G>T						MROH8_ENST00000441008.2_Silent_p.R747R|MROH8_ENST00000217333.8_Silent_p.R590R	p.R761R							18	2282	-								Q5JYQ6	Silent	SNP	ENST00000400441.3	37	c.2283C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.650|0.650	-0.809771|-0.809771	0.02798|0.02798	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000417458	.|.	.|.	.|.	5.05|5.05	4.02|4.02	0.46733|0.46733	.|.	.|.	.|.	.|.	.|.	T|T	0.60919|0.60919	0.2306|0.2306	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57820|0.57820	-0.7745|-0.7745	4|4	.|.	.|.	.|.	-9.1967|-9.1967	10.4001|10.4001	0.44225|0.44225	0.0:0.2563:0.7437:0.0|0.0:0.2563:0.7437:0.0	.|.	.|.	.|.	.|.	D|I	788|389	.|.	.|.	A|L	-|-	2|1	0|0	C20orf132|C20orf132	35181602|35181602	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.073000|0.073000	0.16967|0.16967	0.175000|0.175000	0.16762|0.16762	2.508000|2.508000	0.84585|0.84585	0.650000|0.650000	0.86243|0.86243	GCT|CTT		0.498	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		12	78	1	0	3.07112e-06	1	3.52574e-06	12	78				
C1orf186	440712	broad.mit.edu	37	1	206243553	206243553	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206243553C>A	ENST00000331555.5	-	0	588					NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186							integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGAACCACCCTGGCACCTCG	0.557																																						ENST00000331555.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9								chromosome 1 open reading frame 186							106.0	84.0	92.0					1																	206243553		2203	4300	6503			440712					integral to membrane		g.chr1:206243553C>A	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.-51G>T	1.37:g.206243553C>A								NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		0	588	-									Translation_Start_Site	SNP	ENST00000331555.5	37		CCDS30995.1																																																																																				0.557	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		7	41	1	0	0.00307968	1	0.00325696	7	41				
VIL1	7429	broad.mit.edu	37	2	219301972	219301972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219301972G>T	ENST00000248444.5	+	17	2185	c.2097G>T	c.(2095-2097)aaG>aaT	p.K699N	VIL1_ENST00000392114.2_Missense_Mutation_p.K388N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	699	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTGAAGCAGGGACACG	0.602																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2095-2097)aaG>aaT		villin 1							121.0	104.0	110.0					2																	219301972		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301972G>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2097G>T	2.37:g.219301972G>T	ENSP00000248444:p.Lys699Asn					VIL1_ENST00000392114.2_Missense_Mutation_p.K388N	p.K699N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2185	+		Renal(207;0.0474)	699			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.2097G>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359767	0.61403	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.54866	0.55;0.55	4.87	4.0	0.46444	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64381	-0.6421	10	0.54805	T	0.06	-38.9232	10.0182	0.42027	0.1547:0.0:0.8453:0.0	.	699	P09327	VILI_HUMAN	N	699;388	ENSP00000248444:K699N;ENSP00000375962:K388N	ENSP00000248444:K699N	K	+	3	2	VIL1	219010216	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.101000	0.41787	1.431000	0.47355	-0.291000	0.09656	AAG		0.602	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		13	32	1	0	0.00010058	1	0.000111121	13	32				
HIVEP2	3097	broad.mit.edu	37	6	143074516	143074516	+	Missense_Mutation	SNP	G	G	A	rs199935129		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074516G>A	ENST00000367604.1	-	9	7708	c.7069C>T	c.(7069-7071)Ccc>Tcc	p.P2357S	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2357S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2357S|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCTGGTGGGGCTCCTGCACC	0.567																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(7069-7071)Ccc>Tcc		human immunodeficiency virus type I enhancer binding protein 2		G	SER/PRO	0,3946		0,0,1973	45.0	48.0	47.0		7069	3.0	1.0	6	dbSNP_134	47	12,8286		0,12,4137	yes	missense	HIVEP2	NM_006734.3	74	0,12,6110	AA,AG,GG		0.1446,0.0,0.098	benign	2357/2447	143074516	12,12232	1973	4149	6122	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074516G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7069C>T	6.37:g.143074516G>A	ENSP00000356576:p.Pro2357Ser					RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2357S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2357S	p.P2357S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7811	-			2357					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.7069C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	4.895	0.166391	0.09339	0.0	0.001446	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02301	4.35;4.35;4.35	5.72	2.96	0.34315	.	0.157772	0.56097	N	0.000026	T	0.00754	0.0025	L	0.34521	1.04	0.35783	D	0.821824	B	0.09022	0.002	B	0.08055	0.003	T	0.50381	-0.8835	10	0.22109	T	0.4	-4.5473	9.8957	0.41318	0.2203:0.0:0.7797:0.0	.	2357	P31629	ZEP2_HUMAN	S	2357	ENSP00000356576:P2357S;ENSP00000356575:P2357S;ENSP00000012134:P2357S	ENSP00000012134:P2357S	P	-	1	0	HIVEP2	143116209	0.996000	0.38824	0.982000	0.44146	0.810000	0.45777	0.749000	0.26320	0.342000	0.23796	0.563000	0.77884	CCC		0.567	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			12	29	0	0	0	1	0	12	29				
KLHL35	283212	broad.mit.edu	37	11	75139543	75139543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75139543C>T	ENST00000539798.1	-	2	1009	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	KLHL35_ENST00000376292.4_Missense_Mutation_p.G117D	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	337										lung(2)|stomach(1)	3						GCGAGTGTAGCCGGGCAGGCT	0.642																																					Colon(77;683 1691 18820 23811)	ENST00000539798.1																			0				lung(2)|stomach(1)	3						c.(1009-1011)gGc>gAc		kelch-like family member 35							40.0	50.0	47.0					11																	75139543		2018	4162	6180	SO:0001583	missense	283212							g.chr11:75139543C>T		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1010G>A	11.37:g.75139543C>T	ENSP00000438526:p.Gly337Asp					KLHL35_ENST00000376292.4_Missense_Mutation_p.G117D	p.G337D	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN			2	1009	-			117					A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	ENST00000539798.1	37	c.1010G>A	CCDS44685.2	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111955	0.56398	.	.	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.70869	-0.52;-0.4	5.11	4.2	0.49525	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	L	0.27053	0.805	0.54753	D	0.999989	D	0.55172	0.97	P	0.55615	0.78	T	0.62941	-0.6747	10	0.22706	T	0.39	.	11.7932	0.52082	0.0:0.9144:0.0:0.0856	.	117	Q6PF15	KLH35_HUMAN	D	117;337	ENSP00000365469:G117D;ENSP00000438526:G337D	ENSP00000365469:G117D	G	-	2	0	KLHL35	74817191	0.978000	0.34361	0.118000	0.21660	0.658000	0.38924	2.485000	0.45250	1.525000	0.49052	0.561000	0.74099	GGC		0.642	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		14	36	0	0	0	1	0	14	36				
TULP4	56995	broad.mit.edu	37	6	158923412	158923412	+	Missense_Mutation	SNP	G	G	A	rs377359848		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923412G>A	ENST00000367097.3	+	13	4074	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	906					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCGCACCCGGATGCTGTGC	0.652																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2716-2718)cGg>cAg		tubby like protein 4		G	,GLN/ARG	0,4406		0,0,2203	68.0	73.0	72.0		,2717	5.1	1.0	6		72	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TULP4	NM_001007466.1,NM_020245.3	,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,906/1544	158923412	1,13005	2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923412G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2717G>A	6.37:g.158923412G>A	ENSP00000356064:p.Arg906Gln					TULP4_ENST00000367094.2_Intron	p.R906Q	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4074	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	906					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2717G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708064	0.89018	0.0	1.16E-4	ENSG00000130338	ENST00000367097	T	0.71698	-0.59	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82985	-0.0185	10	0.87932	D	0	-31.5225	18.5327	0.90999	0.0:0.0:1.0:0.0	.	906	Q9NRJ4	TULP4_HUMAN	Q	906	ENSP00000356064:R906Q	ENSP00000356064:R906Q	R	+	2	0	TULP4	158843400	1.000000	0.71417	0.983000	0.44433	0.786000	0.44442	8.946000	0.92992	2.379000	0.81126	0.561000	0.74099	CGG		0.652	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		30	36	0	0	0	1	0	30	36				
LOC440040	440040	broad.mit.edu	37	11	49805585	49805585	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49805585G>A	ENST00000527477.1	+	0	1273																											ATGGCCATGAGGCGCCTGGGT	0.527																																						ENST00000527477.1																			0																																																			0							g.chr11:49805585G>A																													11.37:g.49805585G>A														0	1273	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.527	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			22	38	0	0	0	1	0	22	38				
EPG5	57724	broad.mit.edu	37	18	43524058	43524058	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43524058G>T	ENST00000282041.5	-	8	1739	c.1705C>A	c.(1705-1707)Ctc>Atc	p.L569I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	569					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATTAAGGAGAATCCAACTG	0.393																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1705-1707)Ctc>Atc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							158.0	143.0	147.0					18																	43524058		1876	4112	5988	SO:0001583	missense	57724				autophagy			g.chr18:43524058G>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1705C>A	18.37:g.43524058G>T	ENSP00000282041:p.Leu569Ile						p.L569I	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			8	1739	-			569					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1705C>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014428	0.54468	.	.	ENSG00000152223	ENST00000282041	T	0.79454	-1.27	5.29	5.29	0.74685	.	0.093516	0.44097	D	0.000494	D	0.82688	0.5091	L	0.47716	1.5	0.40970	D	0.984695	D;D	0.65815	0.995;0.99	P;P	0.59424	0.857;0.814	T	0.80677	-0.1276	10	0.29301	T	0.29	-11.0736	18.9195	0.92519	0.0:0.0:1.0:0.0	.	569;569	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	I	569	ENSP00000282041:L569I	ENSP00000282041:L569I	L	-	1	0	EPG5	41778056	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.371000	0.73119	2.464000	0.83262	0.462000	0.41574	CTC		0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		35	55	1	0	1.36161e-19	1	1.78291e-19	35	55				
PCM1	5108	broad.mit.edu	37	8	17814820	17814820	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17814820A>T	ENST00000519253.1	+	12	1945	c.1694A>T	c.(1693-1695)aAt>aTt	p.N565I	PCM1_ENST00000524226.1_Missense_Mutation_p.N565I|PCM1_ENST00000325083.8_Missense_Mutation_p.N565I			Q15154	PCM1_HUMAN	pericentriolar material 1	565					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTCATAGTAATGCACAGTGT	0.358			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(1693-1695)aAt>aTt		pericentriolar material 1							147.0	140.0	142.0					8																	17814820		1850	4092	5942	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17814820A>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1694A>T	8.37:g.17814820A>T	ENSP00000431099:p.Asn565Ile					PCM1_ENST00000519253.1_Missense_Mutation_p.N565I|PCM1_ENST00000524226.1_Missense_Mutation_p.N565I	p.N565I	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	12	2133	+			565					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1694A>T		.	.	.	.	.	.	.	.	.	.	A	13.91	2.377249	0.42105	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	4.99	2.31	0.28768	.	0.221994	0.53938	D	0.000058	T	0.54951	0.1890	L	0.56769	1.78	0.80722	D	1	P;D;B;P	0.76494	0.903;0.999;0.2;0.903	B;D;B;B	0.85130	0.406;0.997;0.219;0.406	T	0.50742	-0.8792	10	0.33940	T	0.23	-8.8874	10.1239	0.42639	0.7339:0.0:0.0:0.2661	.	565;604;565;565	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	I	565;604;565;565	ENSP00000327077:N565I;ENSP00000428131:N604I;ENSP00000431099:N565I;ENSP00000430521:N565I	ENSP00000327077:N565I	N	+	2	0	PCM1	17859100	0.996000	0.38824	0.999000	0.59377	0.767000	0.43475	3.502000	0.53332	0.940000	0.37473	0.377000	0.23210	AAT		0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		8	116	0	0	0	1	0	8	116				
PSD2	84249	broad.mit.edu	37	5	139216472	139216472	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139216472C>T	ENST00000274710.3	+	10	1685	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	494					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGACGCGAATCCTGGA	0.577																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1480-1482)Cga>Tga		pleckstrin and Sec7 domain containing 2							178.0	157.0	164.0					5																	139216472		2203	4300	6503	SO:0001587	stop_gained	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216472C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1480C>T	5.37:g.139216472C>T	ENSP00000274710:p.Arg494*						p.R494*	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1685	+			494					D3DQD3|Q8N3J8	Nonsense_Mutation	SNP	ENST00000274710.3	37	c.1480C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	39	7.290421	0.98189	.	.	ENSG00000146005	ENST00000274710	.	.	.	5.37	3.3	0.37823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4951	0.67680	0.3298:0.6702:0.0:0.0	.	.	.	.	X	494	.	ENSP00000274710:R494X	R	+	1	2	PSD2	139196656	0.959000	0.32827	0.976000	0.42696	0.929000	0.56500	2.342000	0.43992	1.215000	0.43411	0.555000	0.69702	CGA		0.577	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		39	62	0	0	0	1	0	39	62				
TRIM67	440730	broad.mit.edu	37	1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231349664G>A	ENST00000366653.5	+	9	2227	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T|TRIM67_ENST00000444294.3_Missense_Mutation_p.A741T|TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	743	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2221-2223)Gcc>Acc		tripartite motif containing 67							54.0	63.0	60.0					1																	231349664		2135	4235	6370	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231349664G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2227G>A	1.37:g.231349664G>A	ENSP00000355613:p.Ala743Thr					TRIM67_ENST00000366653.5_Missense_Mutation_p.A743T|TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T|TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T	p.A741T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			9	3079	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	743			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.2221G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433530	0.96150	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.78003	-0.76;-1.14;-0.76;-0.76	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.062579	0.64402	D	0.000008	T	0.80592	0.4652	L	0.55990	1.75	0.80722	D	1	P	0.49696	0.927	P	0.54706	0.759	T	0.74645	-0.3596	10	0.02654	T	1	.	19.6098	0.95600	0.0:0.0:1.0:0.0	.	743	Q6ZTA4	TRI67_HUMAN	T	741;743;681;743	ENSP00000412124:A741T;ENSP00000355612:A743T;ENSP00000400163:A681T;ENSP00000355613:A743T	ENSP00000355612:A743T	A	+	1	0	TRIM67	229416287	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.533000	0.81994	2.714000	0.92807	0.561000	0.74099	GCC		0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		7	42	0	0	0	1	0	7	42				
GTSE1	51512	broad.mit.edu	37	22	46704226	46704226	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704226G>T	ENST00000454366.1	+	4	360	c.148G>T	c.(148-150)Gat>Tat	p.D50Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	31					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGCAAATGAAGATGATGAAGT	0.393																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(148-150)Gat>Tat		G-2 and S-phase expressed 1							86.0	92.0	90.0					22																	46704226		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704226G>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.148G>T	22.37:g.46704226G>T	ENSP00000415430:p.Asp50Tyr						p.D50Y	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	360	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	31					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.148G>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049458	0.75846	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.25414	1.8	5.54	5.54	0.83059	.	0.147665	0.64402	D	0.000013	T	0.52741	0.1753	M	0.76574	2.34	0.51482	D	0.999923	D	0.89917	1.0	D	0.81914	0.995	T	0.55296	-0.8163	10	0.87932	D	0	-18.8325	16.9672	0.86290	0.0:0.0:1.0:0.0	.	31	Q9NYZ3	GTSE1_HUMAN	Y	50;10	ENSP00000415430:D50Y	ENSP00000354634:D10Y	D	+	1	0	GTSE1	45082890	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	4.888000	0.63164	2.594000	0.87642	0.655000	0.94253	GAT		0.393	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		11	118	1	0	0.00829132	1	0.00869385	11	118				
MEGF11	84465	broad.mit.edu	37	15	66190420	66190420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66190420C>T	ENST00000409699.2	-	23	3159	c.2987G>A	c.(2986-2988)aGt>aAt	p.S996N	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000422354.1_Missense_Mutation_p.S996N|MEGF11_ENST00000395625.2_Missense_Mutation_p.S921N|MEGF11_ENST00000288745.3_Missense_Mutation_p.S921N|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	996					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TTGGACCACACTGACTGTGGG	0.448																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2986-2988)aGt>aAt		multiple EGF-like-domains 11							87.0	74.0	79.0					15																	66190420		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66190420C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2987G>A	15.37:g.66190420C>T	ENSP00000386908:p.Ser996Asn					MEGF11_ENST00000395625.2_Missense_Mutation_p.S921N|MEGF11_ENST00000288745.3_Missense_Mutation_p.S921N|MEGF11_ENST00000422354.1_Missense_Mutation_p.S996N|MEGF11_ENST00000360698.4_3'UTR	p.S996N			A6BM72	MEG11_HUMAN			23	3159	-			996					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2987G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510849	0.44660	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.87809	-2.3;-2.18;-2.3;-2.18	5.03	4.12	0.48240	.	0.163828	0.28665	U	0.014560	D	0.85474	0.5705	M	0.65498	2.005	0.80722	D	1	B;B	0.14012	0.005;0.009	B;B	0.15484	0.006;0.013	T	0.83078	-0.0139	10	0.54805	T	0.06	.	13.2972	0.60305	0.0:0.9244:0.0:0.0756	.	996;921	A6BM72;A6BM72-2	MEG11_HUMAN;.	N	996;921;996;921	ENSP00000386908:S996N;ENSP00000288745:S921N;ENSP00000414475:S996N;ENSP00000378987:S921N	ENSP00000288745:S921N	S	-	2	0	MEGF11	63977474	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.261000	0.43276	1.345000	0.45676	0.655000	0.94253	AGT		0.448	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		5	24	0	0	0	1	0	5	24				
POLE	5426	broad.mit.edu	37	12	133219227	133219227	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219227A>T	ENST00000320574.5	-	37	4860	c.4817T>A	c.(4816-4818)tTc>tAc	p.F1606Y	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.F1579Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1606					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACCAGTGGGAATTCCTCCAA	0.602								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4816-4818)tTc>tAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							49.0	54.0	52.0					12																	133219227		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219227A>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4817T>A	12.37:g.133219227A>T	ENSP00000322570:p.Phe1606Tyr					POLE_ENST00000535270.1_Missense_Mutation_p.F1579Y	p.F1606Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	37	4860	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1606					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4817T>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485326	0.84854	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.27890	1.64;1.64;1.64	5.6	4.45	0.53987	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	M	0.63208	1.945	0.58432	D	0.999999	D	0.60575	0.988	P	0.61722	0.893	T	0.38520	-0.9657	10	0.45353	T	0.12	.	11.6025	0.51012	0.9302:0.0:0.0698:0.0	.	1606	Q07864	DPOE1_HUMAN	Y	1606;1617;1579	ENSP00000322570:F1606Y;ENSP00000406383:F1617Y;ENSP00000445753:F1579Y	ENSP00000322570:F1606Y	F	-	2	0	POLE	131729300	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	8.795000	0.91872	0.950000	0.37743	0.528000	0.53228	TTC		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	43	0	0	0	1	0	8	43				
ZNF264	9422	broad.mit.edu	37	19	57723301	57723301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57723301G>A	ENST00000263095.6	+	4	1250	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R279Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGCACCAGCGGATTCACAGT	0.517																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(835-837)cGg>cAg		zinc finger protein 264							73.0	72.0	73.0					19																	57723301		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723301G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.836G>A	19.37:g.57723301G>A	ENSP00000263095:p.Arg279Gln					ZNF264_ENST00000536056.1_Missense_Mutation_p.R279Q	p.R279Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1250	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	279					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.836G>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319253	0.60524	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.24723	1.84;1.84	2.35	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40670	0.1126	L	0.55481	1.735	0.22354	N	0.999178	D	0.89917	1.0	D	0.85130	0.997	T	0.11372	-1.0590	9	0.72032	D	0.01	.	6.3198	0.21211	0.267:0.0:0.733:0.0	.	279	O43296	ZN264_HUMAN	Q	279	ENSP00000263095:R279Q;ENSP00000440376:R279Q	ENSP00000263095:R279Q	R	+	2	0	ZNF264	62415113	0.027000	0.19231	0.997000	0.53966	0.983000	0.72400	1.701000	0.37825	0.530000	0.28619	0.491000	0.48974	CGG		0.517	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			24	33	0	0	0	1	0	24	33				
C2orf54	79919	broad.mit.edu	37	2	241835229	241835229	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241835229G>T	ENST00000388934.4	-	1	344	c.186C>A	c.(184-186)tcC>tcA	p.S62S		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	62										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCAGGCCACGGGAGTAGTCCA	0.662																																						ENST00000388934.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(184-186)tcC>tcA		chromosome 2 open reading frame 54							26.0	30.0	29.0					2																	241835229		2129	4229	6358	SO:0001819	synonymous_variant	79919							g.chr2:241835229G>T	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.186C>A	2.37:g.241835229G>T							p.S62S	NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	344	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	62					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.186C>A	CCDS42839.1																																																																																				0.662	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		12	24	1	0	3.07112e-06	1	3.52574e-06	12	24				
GEMIN4	50628	broad.mit.edu	37	17	649630	649630	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:649630G>A	ENST00000319004.5	-	2	1771	c.1653C>T	c.(1651-1653)cgC>cgT	p.R551R	GEMIN4_ENST00000576778.1_Silent_p.R540R	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	551					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTATGACCAGGCGGGCCACGG	0.552																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1618-1620)cgC>cgT		gem (nuclear organelle) associated protein 4							54.0	60.0	58.0					17																	649630		2026	4189	6215	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649630G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1653C>T	17.37:g.649630G>A						GEMIN4_ENST00000319004.5_Silent_p.R551R	p.R540R			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2961	-		Myeloproliferative disorder(207;0.204)	551					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.1620C>T	CCDS45559.1																																																																																				0.552	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		8	41	0	0	0	1	0	8	41				
ALOX12	239	broad.mit.edu	37	17	6913121	6913121	+	Silent	SNP	C	C	T	rs151263719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6913121C>T	ENST00000251535.6	+	12	1649	c.1596C>T	c.(1594-1596)tgC>tgT	p.C532C	RNASEK_ENST00000402093.1_5'Flank|AC027763.2_ENST00000399540.2_Missense_Mutation_p.A31T|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Missense_Mutation_p.A43T|AC027763.2_ENST00000399541.2_Missense_Mutation_p.A31T|RP11-589P10.7_ENST00000572547.1_RNA|RNASEK_ENST00000548577.1_5'Flank|AC027763.2_ENST00000575727.1_Missense_Mutation_p.A31T	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	532	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TCACCATGTGCGTCTTCACGT	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20453	0.0		0.0	False		,,,				2504	0.0					ENST00000399540.2																			0											c.(91-93)Gca>Aca				C		1,4405	2.1+/-5.4	0,1,2202	129.0	108.0	115.0		1596	-1.0	0.7	17	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	ALOX12	NM_000697.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		532/664	6913121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6913121C>T	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1596C>T	17.37:g.6913121C>T						AC027763.2_ENST00000575727.1_Missense_Mutation_p.A31T|AC027763.2_ENST00000574377.1_Missense_Mutation_p.A43T|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Missense_Mutation_p.A31T|ALOX12_ENST00000251535.6_Silent_p.C532C	p.A31T							2	234	-								O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.91G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621765	0.28889	2.27E-4	0.0	ENSG00000215067	ENST00000399541;ENST00000399540	T	0.14516	2.5	5.28	-0.959	0.10343	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.31084	N	0.711622	.	.	.	.	.	.	T	0.28618	-1.0038	6	0.52906	T	0.07	0.0126	6.949	0.24534	0.0:0.5101:0.1631:0.3268	.	.	.	.	T	31	ENSP00000382455:A31T	ENSP00000382455:A31T	A	-	1	0	AC027763.2	6853845	0.262000	0.24073	0.663000	0.29738	0.877000	0.50540	0.091000	0.15046	-0.088000	0.12506	-0.471000	0.05019	GCA		0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			32	54	0	0	0	1	0	32	54				
MUC17	140453	broad.mit.edu	37	7	100679256	100679256	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100679256C>A	ENST00000306151.4	+	3	4623	c.4559C>A	c.(4558-4560)cCt>cAt	p.P1520H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1520	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATACCTGTCAGCACC	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4558-4560)cCt>cAt		mucin 17, cell surface associated							234.0	211.0	219.0					7																	100679256		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679256C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4559C>A	7.37:g.100679256C>A	ENSP00000302716:p.Pro1520His						p.P1520H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4623	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1520			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4559C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.586602	0.00872	.	.	ENSG00000169876	ENST00000306151	T	0.05447	3.44	0.364	-0.728	0.11162	.	.	.	.	.	T	0.08133	0.0203	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	P	0.56823	0.807	T	0.23190	-1.0195	8	0.45353	T	0.12	.	.	.	.	.	1520	Q685J3	MUC17_HUMAN	H	1520	ENSP00000302716:P1520H	ENSP00000302716:P1520H	P	+	2	0	MUC17	100465976	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.096000	0.15147	-1.096000	0.03046	-1.709000	0.00716	CCT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		54	186	1	0	5.99346e-17	1	7.75334e-17	54	186				
CPN1	1369	broad.mit.edu	37	10	101841303	101841303	+	Missense_Mutation	SNP	C	C	T	rs201817147		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101841303C>T	ENST00000370418.3	-	1	331	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	27	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCATCATAGCGGTGGTGGCG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19496	0.001		0.0	False		,,,				2504	0.0					ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(79-81)cGc>cAc		carboxypeptidase N, polypeptide 1							79.0	68.0	72.0					10																	101841303		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101841303C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.80G>A	10.37:g.101841303C>T	ENSP00000359446:p.Arg27His						p.R27H	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	1	331	-		Colorectal(252;0.234)	27			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.80G>A	CCDS7486.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.33	2.801204	0.50315	.	.	ENSG00000120054	ENST00000370418	T	0.03441	3.93	5.45	3.58	0.41010	Peptidase M14, carboxypeptidase A (1);	0.161069	0.56097	D	0.000023	T	0.04363	0.0120	L	0.41710	1.295	0.50313	D	0.999868	B	0.13145	0.007	B	0.10450	0.005	T	0.38023	-0.9680	10	0.45353	T	0.12	-24.5184	12.0464	0.53483	0.0:0.8577:0.0:0.1423	.	27	P15169	CBPN_HUMAN	H	27	ENSP00000359446:R27H	ENSP00000359446:R27H	R	-	2	0	CPN1	101831293	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.169000	0.31871	1.300000	0.44818	0.555000	0.69702	CGC		0.567	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		8	27	0	0	0	1	0	8	27				
DLGAP4	22839	broad.mit.edu	37	20	35155232	35155232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35155232C>T	ENST00000373907.2	+	12	2976	c.2777C>T	c.(2776-2778)cCc>cTc	p.P926L	DLGAP4_ENST00000339266.5_Missense_Mutation_p.P926L|DLGAP4_ENST00000373913.3_Missense_Mutation_p.P923L|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P387L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P923L|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	926					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGAAACCACCCCCTCCGGTC	0.562																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2767-2769)cCc>cTc		discs, large (Drosophila) homolog-associated protein 4							20.0	24.0	22.0					20																	35155232		2199	4283	6482	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35155232C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2777C>T	20.37:g.35155232C>T	ENSP00000363014:p.Pro926Leu					DLGAP4_ENST00000401952.2_Missense_Mutation_p.P923L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P926L|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P387L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P926L|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA	p.P923L			Q9Y2H0	DLGP4_HUMAN			13	3248	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	926					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2768C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.074170	0.76415	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.53	5.53	0.82687	.	0.316313	0.35235	N	0.003351	T	0.54498	0.1862	M	0.87547	2.89	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.982;0.999;0.95	T	0.61657	-0.7018	10	0.87932	D	0	.	18.4636	0.90748	0.0:1.0:0.0:0.0	.	387;926;923	Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;DLGP4_HUMAN;.	L	923;923;926;926;387	ENSP00000363023:P923L;ENSP00000384954:P923L;ENSP00000363014:P926L;ENSP00000341633:P926L;ENSP00000345700:P387L	ENSP00000341633:P926L	P	+	2	0	DLGAP4	34588646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.529000	0.81952	2.597000	0.87782	0.563000	0.77884	CCC		0.562	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		6	5	0	0	0	1	0	6	5				
PPAP2A	8611	broad.mit.edu	37	5	54763817	54763817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763817C>T	ENST00000307259.8	-	3	791	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PPAP2A_ENST00000264775.5_Missense_Mutation_p.G125D|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	124					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				CCGCAGTCTGCCTATTGAATA	0.423																																						ENST00000307259.8																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9						c.(370-372)gGc>gAc		phosphatidic acid phosphatase type 2A							120.0	117.0	118.0					5																	54763817		2203	4300	6503	SO:0001583	missense	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54763817C>T	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.371G>A	5.37:g.54763817C>T	ENSP00000302229:p.Gly124Asp					PPAP2A_ENST00000264775.5_Missense_Mutation_p.G125D|PPAP2A_ENST00000515132.1_5'UTR	p.G124D	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN			3	791	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	124					B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.371G>A	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053263	0.93793	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.77229	-1.08;-1.08	5.58	5.58	0.84498	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91090	0.4906	10	0.87932	D	0	-10.4869	19.9924	0.97371	0.0:1.0:0.0:0.0	.	124;125	O14494;G3XA95	LPP1_HUMAN;.	D	125;124	ENSP00000264775:G125D;ENSP00000302229:G124D	ENSP00000264775:G125D	G	-	2	0	PPAP2A	54799574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.801000	0.96364	0.573000	0.79308	GGC		0.423	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			46	51	0	0	0	1	0	46	51				
GREB1	9687	broad.mit.edu	37	2	11716623	11716623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11716623C>A	ENST00000381486.2	+	5	899	c.599C>A	c.(598-600)aCt>aAt	p.T200N	GREB1_ENST00000381483.2_Missense_Mutation_p.T200N|GREB1_ENST00000234142.5_Missense_Mutation_p.T200N|GREB1_ENST00000263834.5_Missense_Mutation_p.T200N|GREB1_ENST00000389825.3_Missense_Mutation_p.T90N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	200						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACAAGGGACTCTAACCAAA	0.498																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(598-600)aCt>aAt		growth regulation by estrogen in breast cancer 1							120.0	113.0	115.0					2																	11716623		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11716623C>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.599C>A	2.37:g.11716623C>A	ENSP00000370896:p.Thr200Asn					GREB1_ENST00000389825.3_Missense_Mutation_p.T90N|GREB1_ENST00000234142.5_Missense_Mutation_p.T200N|GREB1_ENST00000263834.5_Missense_Mutation_p.T200N|GREB1_ENST00000381483.2_Missense_Mutation_p.T200N	p.T200N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	5	899	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		200					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.599C>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767284	0.49574	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;D;D;D;T	0.82433	3.28;-1.61;-1.61;-1.61;3.28	5.08	5.08	0.68730	.	0.751146	0.13035	N	0.418968	T	0.70762	0.3261	N	0.08118	0	0.09310	N	1	P;P;B;B	0.43885	0.554;0.82;0.355;0.001	B;B;B;B	0.41894	0.369;0.331;0.156;0.001	T	0.64175	-0.6469	10	0.42905	T	0.14	-3.9267	13.6031	0.62031	0.155:0.8449:0.0:0.0	.	200;90;200;200	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	N	200;200;90;200;200	ENSP00000370896:T200N;ENSP00000263834:T200N;ENSP00000374475:T90N;ENSP00000370892:T200N;ENSP00000234142:T200N	ENSP00000234142:T200N	T	+	2	0	GREB1	11634074	0.000000	0.05858	0.453000	0.27007	0.953000	0.61014	0.901000	0.28445	2.640000	0.89533	0.655000	0.94253	ACT		0.498	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		26	78	1	0	9.39395e-14	1	1.19386e-13	26	78				
SAMD9L	219285	broad.mit.edu	37	7	92762300	92762300	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762300G>A	ENST00000318238.4	-	5	4201	c.2985C>T	c.(2983-2985)taC>taT	p.Y995Y	SAMD9L_ENST00000411955.1_Silent_p.Y995Y|SAMD9L_ENST00000437805.1_Silent_p.Y995Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	995					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTAGACAGTACAGGGCAA	0.353																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2983-2985)taC>taT		sterile alpha motif domain containing 9-like							74.0	74.0	74.0					7																	92762300		2202	4300	6502	SO:0001819	synonymous_variant	219285							g.chr7:92762300G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2985C>T	7.37:g.92762300G>A						SAMD9L_ENST00000437805.1_Silent_p.Y995Y|SAMD9L_ENST00000411955.1_Silent_p.Y995Y	p.Y995Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4201	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		995					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2985C>T	CCDS34681.1																																																																																				0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		38	97	0	0	0	1	0	38	97				
MSL3P1	151507	broad.mit.edu	37	2	234775381	234775381	+	RNA	SNP	G	G	A	rs374448595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234775381G>A	ENST00000438684.1	-	0	733					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TGTAGACTGCGGCCTGGATGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19134	0.0		0.001	False		,,,				2504	0.0					ENST00000438684.1																			0															G		0,1384		0,0,692	42.0	39.0	40.0			1.4	0.0	2		40	2,3180		0,2,1589	no	intergenic				0,2,2281	AA,AG,GG		0.0629,0.0,0.0438			234775381	2,4564	692	1591	2283			0							g.chr2:234775381G>A	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775381G>A								NR_024322.1						0	733	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.537	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		6	9	0	0	0	1	0	6	9				
CEP170	9859	broad.mit.edu	37	1	243303270	243303270	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243303270A>C	ENST00000366542.1	-	16	4250	c.4199T>G	c.(4198-4200)aTt>aGt	p.I1400S	CEP170_ENST00000366544.1_Missense_Mutation_p.I1302S|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.I1276S|CEP170_ENST00000490813.1_Missense_Mutation_p.I109S|CEP170_ENST00000481987.1_Missense_Mutation_p.I136S|CEP170_ENST00000468254.1_5'UTR	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1400	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCGCCTTGTAATTGTTAAGTG	0.428																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(4198-4200)aTt>aGt		centrosomal protein 170kDa							47.0	44.0	45.0					1																	243303270		1832	4075	5907	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243303270A>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4199T>G	1.37:g.243303270A>C	ENSP00000355500:p.Ile1400Ser					CEP170_ENST00000366544.1_Missense_Mutation_p.I1302S|CEP170_ENST00000366543.1_Missense_Mutation_p.I1276S|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000481987.1_Missense_Mutation_p.I136S|CEP170_ENST00000490813.1_Missense_Mutation_p.I109S|CEP170_ENST00000468254.1_5'UTR	p.I1400S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		16	4250	-	all_neural(11;0.101)	all_cancers(173;0.003)	1400			Targeting to centrosomes.|Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.4199T>G	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.96|14.96	2.689880|2.689880	0.48097|0.48097	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936|ENST00000336415	T;T;T|.	0.41758|.	1.0;0.99;1.0|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.158545|.	0.56097|.	D|.	0.000032|.	T|T	0.37128|0.37128	0.0992|0.0992	N|N	0.05078|0.05078	-0.115|-0.115	0.46849|0.46849	D|D	0.999227|0.999227	D;D;D;D|.	0.71674|.	0.997;0.984;0.984;0.998|.	D;D;D;D|.	0.78314|.	0.988;0.964;0.964;0.991|.	T|T	0.31251|0.31251	-0.9950|-0.9950	10|5	0.09843|.	T|.	0.71|.	-16.2189|-16.2189	14.674|14.674	0.68964|0.68964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1373;1302;1276;1400|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	S|V	1400;1302;1276;136;335;109;192;109|1374	ENSP00000355500:I1400S;ENSP00000355502:I1302S;ENSP00000355501:I1276S|.	ENSP00000355500:I1400S|.	I|L	-|-	2|1	0|2	CEP170|CEP170	241369893|241369893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	5.074000|5.074000	0.64401|0.64401	2.122000|2.122000	0.65172|0.65172	0.455000|0.455000	0.32223|0.32223	ATT|TTA		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		5	37	0	0	0	1	0	5	37				
SH3PXD2A	9644	broad.mit.edu	37	10	105362350	105362350	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362350G>A	ENST00000369774.4	-	15	2901	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	SH3PXD2A_ENST00000355946.2_Silent_p.S847S|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.S710S|SH3PXD2A_ENST00000540321.1_Silent_p.S742S|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	875	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCACCCGCTCTCCTGCT	0.617																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2623-2625)agC>agT		SH3 and PX domains 2A							50.0	51.0	51.0					10																	105362350		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362350G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2625C>T	10.37:g.105362350G>A						SH3PXD2A_ENST00000540321.1_Silent_p.S742S|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.S847S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.S710S	p.S875S			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2901	-		Colorectal(252;0.0815)|Breast(234;0.131)	875			SH3 4.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.2625C>T		.	.	.	.	.	.	.	.	.	.	G	0.409	-0.914168	0.02415	.	.	ENSG00000107957	ENST00000420222	.	.	.	4.59	-2.81	0.05805	.	.	.	.	.	T	0.57169	0.2035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55976	-0.8055	4	.	.	.	-16.5179	11.8174	0.52218	0.728:0.0:0.272:0.0	.	.	.	.	W	802	.	.	R	-	1	2	SH3PXD2A	105352340	0.038000	0.19896	0.854000	0.33618	0.429000	0.31625	-0.502000	0.06390	-0.468000	0.06922	-0.258000	0.10820	CGG		0.617	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		23	27	0	0	0	1	0	23	27				
IGIP	492311	broad.mit.edu	37	5	139508090	139508090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139508090G>A	ENST00000333305.3	+	1	2570	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	10						extracellular region (GO:0005576)											ATGAAGAAACGCAGTGTGTCG	0.373																																						ENST00000333305.3																			0											c.(28-30)cGc>cAc		IgA-inducing protein							151.0	134.0	140.0					5																	139508090		2203	4300	6503	SO:0001583	missense	492311					extracellular region		g.chr5:139508090G>A	AB073888, BC017422, BC041380	CCDS34244.1	5q31	2013-08-06	2013-08-06	2011-09-22	ENSG00000182700	ENSG00000182700			33847	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 53"", ""IgA-inducing protein homolog (Bos taurus)"""	C5orf53		19201837, 12874223, 21074276	Standard	NM_001007189		Approved	LOC492311	uc003lfb.1	A6NJ69	OTTHUMG00000163359	ENST00000333305.3:c.29G>A	5.37:g.139508090G>A	ENSP00000327344:p.Arg10His						p.R10H	NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN			1	2570	+			10						Missense_Mutation	SNP	ENST00000333305.3	37	c.29G>A	CCDS34244.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574868	0.28092	.	.	ENSG00000182700	ENST00000333305	.	.	.	5.76	2.03	0.26663	.	0.000000	0.43416	D	0.000579	T	0.27866	0.0686	.	.	.	0.23487	N	0.997577	B	0.02656	0.0	B	0.01281	0.0	T	0.23332	-1.0191	8	0.87932	D	0	0.0147	4.0014	0.09582	0.2549:0.0:0.5798:0.1653	.	10	A6NJ69	IGIP_HUMAN	H	10	.	ENSP00000327344:R10H	R	+	2	0	C5orf53	139488274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.485000	0.22324	0.371000	0.24564	0.650000	0.86243	CGC		0.373	IGIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372850.1	NM_001007189		19	48	0	0	0	1	0	19	48				
TENM4	26011	broad.mit.edu	37	11	78443582	78443582	+	Missense_Mutation	SNP	G	G	A	rs201737432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78443582G>A	ENST00000278550.7	-	21	3379	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	973					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGCTCGAACCGCAGGATGATG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		16446	0.001		0.0	False		,,,				2504	0.0					ENST00000278550.7																			0											c.(2917-2919)Cgg>Tgg		teneurin transmembrane protein 4							59.0	60.0	60.0					11																	78443582		2007	4175	6182	SO:0001583	missense	26011							g.chr11:78443582G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2917C>T	11.37:g.78443582G>A	ENSP00000278550:p.Arg973Trp						p.R973W	NM_001098816.2	NP_001092286.2					21	3379	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2917C>T	CCDS44688.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	18.47	3.631744	0.67015	.	.	ENSG00000149256	ENST00000278550	T	0.14516	2.5	5.08	1.65	0.23941	Carboxypeptidase-like, regulatory domain (1);	0.124559	0.52532	D	0.000080	T	0.14917	0.0360	M	0.67953	2.075	0.45567	D	0.998518	D	0.71674	0.998	P	0.47528	0.549	T	0.09952	-1.0651	9	.	.	.	.	15.0259	0.71669	0.0:0.0:0.5518:0.4482	.	973	Q6N022	TEN4_HUMAN	W	973	ENSP00000278550:R973W	.	R	-	1	2	ODZ4	78121230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.010000	0.49559	0.583000	0.29574	0.561000	0.74099	CGG		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			9	12	0	0	0	1	0	9	12				
DENND4C	55667	broad.mit.edu	37	9	19369969	19369969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19369969G>T	ENST00000380432.2	+	26	4837	c.4804G>T	c.(4804-4806)Ggc>Tgc	p.G1602C	DENND4C_ENST00000434457.2_Missense_Mutation_p.G1887C|RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000602925.1_Missense_Mutation_p.G1838C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1602					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATGAAGCCAGGCATGAAAAG	0.333																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3223-3225)Ggc>Tgc		DENN/MADD domain containing 4C							84.0	77.0	80.0					9																	19369969		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19369969G>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4804G>T	9.37:g.19369969G>T	ENSP00000369797:p.Gly1602Cys					DENND4C_ENST00000602925.1_Missense_Mutation_p.G1838C|DENND4C_ENST00000540671.1_Missense_Mutation_p.G932C|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1887C|DENND4C_ENST00000380432.2_Missense_Mutation_p.G1602C	p.G1075C			Q5VZ89	DEN4C_HUMAN			27	4975	+			1602					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.3223G>T		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660866	0.47572	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.26660	1.72;1.72	5.07	3.2	0.36748	.	1.159950	0.06245	N	0.691133	T	0.47637	0.1456	M	0.75615	2.305	0.36606	D	0.87493	P;D;P	0.63046	0.775;0.992;0.89	P;P;B	0.60345	0.649;0.873;0.215	T	0.41592	-0.9500	9	.	.	.	0.8544	8.9994	0.36072	0.2275:0.0:0.7725:0.0	.	932;784;1602	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	C	1602;1075;784;932;1075;784;599	ENSP00000305795:G1075C;ENSP00000443804:G932C	.	G	+	1	0	DENND4C	19359969	1.000000	0.71417	0.619000	0.29118	0.700000	0.40528	2.886000	0.48578	1.373000	0.46208	0.650000	0.86243	GGC		0.333	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		6	79	1	0	5.9392e-07	1	6.91975e-07	6	79				
PCCB	5096	broad.mit.edu	37	3	136048855	136048855	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136048855A>C	ENST00000251654.4	+	15	1677	c.1607A>C	c.(1606-1608)aAt>aCt	p.N536T	PCCB_ENST00000482086.1_Missense_Mutation_p.N420T|PCCB_ENST00000466072.1_Missense_Mutation_p.N556T|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000490504.1_Missense_Mutation_p.N479T|PCCB_ENST00000469217.1_Missense_Mutation_p.N556T|PCCB_ENST00000471595.1_Intron|PCCB_ENST00000483687.1_Missense_Mutation_p.N517T|PCCB_ENST00000468777.1_Missense_Mutation_p.N567T|PCCB_ENST00000462637.1_Missense_Mutation_p.N513T	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	536			N -> D (in PA-2; affects heteromeric and homomeric assembly).		biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AAACATGCAAATATTCCATTG	0.443																																						ENST00000468777.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(1699-1701)aAt>aCt		propionyl CoA carboxylase, beta polypeptide	Biotin(DB00121)|L-Valine(DB00161)						109.0	94.0	99.0					3																	136048855		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136048855A>C		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1607A>C	3.37:g.136048855A>C	ENSP00000251654:p.Asn536Thr					PCCB_ENST00000466072.1_Missense_Mutation_p.N556T|PCCB_ENST00000471595.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.N556T|PCCB_ENST00000251654.4_Missense_Mutation_p.N536T|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000490504.1_Missense_Mutation_p.N479T|PCCB_ENST00000482086.1_Missense_Mutation_p.N420T|PCCB_ENST00000462637.1_Missense_Mutation_p.N513T|PCCB_ENST00000483687.1_Missense_Mutation_p.N517T	p.N567T			P05166	PCCB_HUMAN			16	1721	+			536					B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.1700A>C	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253159	0.80135	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000469217	D;D;D;D;D;D;D;D	0.97772	-3.72;-3.72;-3.72;-3.72;-3.72;-4.53;-3.72;-3.72	5.3	5.3	0.74995	Carboxyl transferase (1);	0.051037	0.85682	D	0.000000	D	0.98595	0.9530	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99525	1.0959	10	0.56958	D	0.05	.	15.2466	0.73509	1.0:0.0:0.0:0.0	.	556;536	B7Z2Z4;P05166	.;PCCB_HUMAN	T	536;479;517;567;513;556;420;556	ENSP00000251654:N536T;ENSP00000418307:N479T;ENSP00000420639:N517T;ENSP00000419129:N567T;ENSP00000420391:N513T;ENSP00000420158:N556T;ENSP00000417253:N420T;ENSP00000419027:N556T	ENSP00000251654:N536T	N	+	2	0	PCCB	137531545	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.599000	0.90856	2.003000	0.58678	0.528000	0.53228	AAT		0.443	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			8	67	0	0	0	1	0	8	67				
DDX4	54514	broad.mit.edu	37	5	55086459	55086459	+	Nonsense_Mutation	SNP	C	C	T	rs371844042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55086459C>T	ENST00000505374.1	+	16	1320	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DDX4_ENST00000353507.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R261*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R390*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	410	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACATTCAATTCGACAAATAGT	0.343																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1228-1230)Cga>Tga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							119.0	126.0	123.0					5																	55086459		2203	4300	6503	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55086459C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1228C>T	5.37:g.55086459C>T	ENSP00000424838:p.Arg410*					DDX4_ENST00000353507.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R261*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R390*	p.R410*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			16	1320	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	410			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.1228C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223595	0.97390	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	.	.	.	5.86	4.98	0.66077	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1854	14.5971	0.68415	0.1461:0.8539:0.0:0.0	.	.	.	.	X	376;390;410;390;376;261	.	ENSP00000334167:R376X	R	+	1	2	DDX4	55122216	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	1.716000	0.37981	1.444000	0.47605	0.650000	0.86243	CGA		0.343	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		60	92	0	0	0	1	0	60	92				
COL8A2	1296	broad.mit.edu	37	1	36564678	36564678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36564678G>A	ENST00000397799.1	-	4	828	c.604C>T	c.(604-606)Cga>Tga	p.R202*	COL8A2_ENST00000481785.1_Nonsense_Mutation_p.R137*|COL8A2_ENST00000303143.4_Nonsense_Mutation_p.R202*			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	202	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAGGCCTCGATCACCTGGG	0.726																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(604-606)Cga>Tga		collagen, type VIII, alpha 2							7.0	8.0	7.0					1																	36564678		1708	3625	5333	SO:0001587	stop_gained	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564678G>A	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.604C>T	1.37:g.36564678G>A	ENSP00000380901:p.Arg202*					COL8A2_ENST00000303143.4_Nonsense_Mutation_p.R202*|COL8A2_ENST00000481785.1_Nonsense_Mutation_p.R137*	p.R202*			P25067	CO8A2_HUMAN			4	828	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	202			Triple-helical region.		Q5JV31|Q8TEJ5	Nonsense_Mutation	SNP	ENST00000397799.1	37	c.604C>T	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804111	0.70682	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	.	.	.	4.57	2.44	0.29823	.	0.225469	0.37809	N	0.001928	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	11.936	0.52874	0.0:0.0:0.548:0.452	.	.	.	.	X	202;202;137;202	.	ENSP00000305913:R202X	R	-	1	2	COL8A2	36337265	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	0.496000	0.22499	1.081000	0.41110	0.511000	0.50034	CGA		0.726	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		3	4	0	0	0	1	0	3	4				
MACF1	23499	broad.mit.edu	37	1	39851175	39851175	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39851175C>A	ENST00000372915.3	+	56	14020	c.13933C>A	c.(13933-13935)Cta>Ata	p.L4645I	MACF1_ENST00000567887.1_Missense_Mutation_p.L4677I|MACF1_ENST00000317713.7_Missense_Mutation_p.L2578I|MACF1_ENST00000545844.1_Missense_Mutation_p.L2578I|MACF1_ENST00000539005.1_Missense_Mutation_p.L2557I|MACF1_ENST00000361689.2_Missense_Mutation_p.L2578I|MACF1_ENST00000564288.1_Missense_Mutation_p.L4640I|MACF1_ENST00000289893.4_Missense_Mutation_p.L3080I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4645					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGGCATCCTAACAGGCCC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13918-13920)Cta>Ata		microtubule-actin crosslinking factor 1							59.0	53.0	55.0					1																	39851175		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851175C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13933C>A	1.37:g.39851175C>A	ENSP00000362006:p.Leu4645Ile					MACF1_ENST00000545844.1_Missense_Mutation_p.L2578I|MACF1_ENST00000289893.4_Missense_Mutation_p.L3080I|MACF1_ENST00000567887.1_Missense_Mutation_p.L4677I|MACF1_ENST00000372915.3_Missense_Mutation_p.L4645I|MACF1_ENST00000317713.7_Missense_Mutation_p.L2578I|MACF1_ENST00000361689.2_Missense_Mutation_p.L2578I|MACF1_ENST00000539005.1_Missense_Mutation_p.L2557I	p.L4640I			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		57	14695	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4645					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13918C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.749896|3.749896	0.69533|0.69533	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27;1.27;1.27|.	6.0|6.0	2.08|2.08	0.27032|0.27032	.|.	0.294281|.	0.24710|.	N|.	0.036223|.	T|T	0.61060|0.61060	0.2317|0.2317	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	B;P;D|.	0.61080|.	0.334;0.691;0.989|.	B;P;P|.	0.60541|.	0.394;0.811;0.876|.	T|T	0.55952|0.55952	-0.8059|-0.8059	10|5	0.56958|.	D|.	0.05|.	.|.	7.8258|7.8258	0.29313|0.29313	0.0:0.6887:0.1177:0.1936|0.0:0.6887:0.1177:0.1936	.|.	4645;2578;2522|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	I|H	2578;4645;2578;2578;2557;3080|1690	ENSP00000439537:L2578I;ENSP00000362006:L4645I;ENSP00000354573:L2578I;ENSP00000313438:L2578I;ENSP00000444364:L2557I;ENSP00000289893:L3080I|.	ENSP00000289893:L3080I|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39623762|39623762	0.993000|0.993000	0.37304|0.37304	0.913000|0.913000	0.36048|0.36048	0.984000|0.984000	0.73092|0.73092	0.984000|0.984000	0.29565|0.29565	0.432000|0.432000	0.26286|0.26286	0.650000|0.650000	0.86243|0.86243	CTA|CCT		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	22	1	0	0.0581538	1	0.0593651	10	22				
PELI3	246330	broad.mit.edu	37	11	66241285	66241285	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66241285G>A	ENST00000320740.7	+	7	889	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PELI3_ENST00000524466.1_Silent_p.P243P|PELI3_ENST00000349459.6_Silent_p.P219P|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	243					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGATGCACCCGGCAGGCGGCT	0.637																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(655-657)ccG>ccA		pellino E3 ubiquitin protein ligase family member 3							54.0	57.0	56.0					11																	66241285		2200	4295	6495	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66241285G>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.729G>A	11.37:g.66241285G>A						PELI3_ENST00000524466.1_Silent_p.P243P|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Silent_p.P243P|CTD-3074O7.5_ENST00000527092.1_RNA	p.P219P	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			6	941	+			243					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.657G>A	CCDS31615.1																																																																																				0.637	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		34	24	0	0	0	1	0	34	24				
AGFG2	3268	broad.mit.edu	37	7	100162563	100162563	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100162563C>A	ENST00000300176.4	+	12	1517	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	465					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGACTGGACCCTCATCAAGCC	0.517											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1393-1395)ccC>ccA		ArfGAP with FG repeats 2							165.0	164.0	164.0					7																	100162563		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100162563C>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1395C>A	7.37:g.100162563C>A			OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	p.P465P	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			12	1517	+			465					O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.1395C>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	7.959	0.746590	0.15710	.	.	ENSG00000106351	ENST00000429987	T	0.43294	0.95	4.73	-2.96	0.05547	.	0.625430	0.15937	N	0.237368	T	0.38825	0.1055	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40961	-0.9535	7	0.87932	D	0	-63.4735	1.4933	0.02461	0.1555:0.2935:0.1255:0.4255	.	.	.	.	H	207	ENSP00000388594:P207H	ENSP00000388594:P207H	P	+	2	0	AGFG2	100000499	0.480000	0.25933	0.468000	0.27192	0.981000	0.71138	-0.318000	0.08050	-1.021000	0.03350	-0.355000	0.07637	CCT		0.517	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		10	204	1	0	0.00621372	1	0.00652201	10	204				
LRRC37BP1	147172	broad.mit.edu	37	17	28958955	28958955	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28958955G>A	ENST00000417404.1	+	0	0									leucine rich repeat containing 37B pseudogene 1																		TGTTAGCAGCGCACTAAGTTA	0.458																																						ENST00000412831.1																			0																																																			0							g.chr17:28958955G>A	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28958955G>A						SMURF2P1_ENST00000578265.1_RNA								0	183	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.458	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		73	105	0	0	0	1	0	73	105				
PCDHGA5	56110	broad.mit.edu	37	5	140745793	140745793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140745793G>A	ENST00000518069.1	+	1	1896	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCCCTGCTGGACAGAG	0.677																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1894-1896)ctG>ctA									69.0	78.0	75.0					5																	140745793		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140745793G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1896G>A	5.37:g.140745793G>A						PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.L632L	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1896	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1896G>A	CCDS54925.1																																																																																				0.677	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		7	95	0	0	0	1	0	7	95				
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152507377C>T	ENST00000172853.10	-	53	7085	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_ENST00000427231.2_Missense_Mutation_p.R2313Q|NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q|NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000397345.3_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q			P20929	NEBU_HUMAN	nebulin	2313					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(6937-6939)cGa>cAa		nebulin							149.0	150.0	150.0					2																	152507377		1926	4120	6046	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152507377C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6938G>A	2.37:g.152507377C>T	ENSP00000172853:p.Arg2313Gln					NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q|NEB_ENST00000397345.3_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q|NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000172853.10_Missense_Mutation_p.R2313Q	p.R2313Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	53	7140	-			2313					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6938G>A		.	.	.	.	.	.	.	.	.	.	C	23.6	4.438429	0.83885	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74399	-0.3678	10	0.45353	T	0.12	.	19.3325	0.94297	0.0:1.0:0.0:0.0	.	2313	P20929	NEBU_HUMAN	Q	2313	ENSP00000386259:R2313Q;ENSP00000380505:R2313Q;ENSP00000416578:R2313Q;ENSP00000172853:R2313Q	ENSP00000172853:R2313Q	R	-	2	0	NEB	152215623	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.433000	0.44793	2.583000	0.87209	0.650000	0.86243	CGA		0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		56	84	0	0	0	1	0	56	84				
COL5A2	1290	broad.mit.edu	37	2	189899862	189899862	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189899862T>C	ENST00000374866.3	-	53	4407	c.4133A>G	c.(4132-4134)cAa>cGa	p.Q1378R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1378	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTAGGTGATTGGTGGTCTCC	0.358																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(4132-4134)cAa>cGa		collagen, type V, alpha 2							88.0	87.0	87.0					2																	189899862		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899862T>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4133A>G	2.37:g.189899862T>C	ENSP00000364000:p.Gln1378Arg						p.Q1378R	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4407	-			1378			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4133A>G	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	9.708	1.156246	0.21454	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.73047	-0.71	5.53	3.12	0.35913	Fibrillar collagen, C-terminal (3);	0.403752	0.18021	N	0.154248	T	0.51839	0.1698	L	0.28115	0.83	0.37907	D	0.931223	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.36089	-0.9762	10	0.16896	T	0.51	.	6.6691	0.23058	0.137:0.0758:0.0:0.7872	.	1018;1378	Q5PR22;P05997	.;CO5A2_HUMAN	R	1378;1018	ENSP00000364000:Q1378R	ENSP00000364000:Q1378R	Q	-	2	0	COL5A2	189608107	0.996000	0.38824	0.998000	0.56505	0.684000	0.39900	2.397000	0.44477	0.375000	0.24679	0.455000	0.32223	CAA		0.358	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		6	58	0	0	0	1	0	6	58				
PSAP	5660	broad.mit.edu	37	10	73581732	73581732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73581732G>T	ENST00000394936.3	-	8	957	c.810C>A	c.(808-810)ttC>ttA	p.F270L	PSAP_ENST00000394934.1_Missense_Mutation_p.F272L			P07602	SAP_HUMAN	prosaposin	270	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCTCATCACAGAACCCAACCA	0.567																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(808-810)ttC>ttA		prosaposin							96.0	85.0	89.0					10																	73581732		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73581732G>T	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.810C>A	10.37:g.73581732G>T	ENSP00000378394:p.Phe270Leu					PSAP_ENST00000394934.1_Missense_Mutation_p.F272L	p.F270L			P07602	SAP_HUMAN			8	957	-			270			Saposin B-type 2.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.810C>A	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116286	0.94339	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.66995	-0.24;-0.24	5.61	4.69	0.59074	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	M	0.78223	2.4	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	T	0.73792	-0.3871	10	0.19590	T	0.45	-3.0627	13.9686	0.64225	0.0736:0.0:0.9264:0.0	.	270	P07602	SAP_HUMAN	L	270;270;273;272;276;196	ENSP00000378394:F270L;ENSP00000378392:F272L	ENSP00000350063:F273L	F	-	3	2	PSAP	73251738	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.655000	0.54460	2.793000	0.96121	0.655000	0.94253	TTC		0.567	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		12	28	1	0	0.0931896	1	0.095068	12	28				
MUC4	4585	broad.mit.edu	37	3	195538617	195538617	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195538617A>G	ENST00000346145.4	-	1	111	c.72T>C	c.(70-72)caT>caC	p.H24H	MUC4_ENST00000475231.1_Silent_p.H24H|MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000349607.4_Silent_p.H24H|MUC4_ENST00000463781.3_Silent_p.H24H	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	24					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGGACCACATGCGGAAGGA	0.642																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(70-72)caT>caC		mucin 4, cell surface associated							85.0	82.0	83.0					3																	195538617		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195538617A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.72T>C	3.37:g.195538617A>G						MUC4_ENST00000349607.4_Silent_p.H24H|MUC4_ENST00000475231.1_Silent_p.H24H|MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000346145.4_Silent_p.H24H	p.H24H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	531	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	24					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.72T>C	CCDS3310.1																																																																																				0.642	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		7	79	0	0	0	1	0	7	79				
ST8SIA2	8128	broad.mit.edu	37	15	92988138	92988138	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92988138G>A	ENST00000268164.3	+	5	1058	c.821G>A	c.(820-822)cGc>cAc	p.R274H	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R253H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	274					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCTCGCTGCGCCTGCTGCAC	0.622																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(820-822)cGc>cAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							82.0	72.0	75.0					15																	92988138		2198	4296	6494	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92988138G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.821G>A	15.37:g.92988138G>A	ENSP00000268164:p.Arg274His					ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R253H	p.R274H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		5	1058	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		274					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.821G>A	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942187	0.92526	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.30714	1.52;1.52;1.52	5.38	5.38	0.77491	.	0.051522	0.85682	D	0.000000	T	0.40546	0.1121	L	0.52364	1.645	0.80722	D	1	P;P	0.46987	0.866;0.888	P;P	0.48552	0.512;0.581	T	0.10613	-1.0622	10	0.41790	T	0.15	-2.0697	19.1232	0.93372	0.0:0.0:1.0:0.0	.	253;274	C6G488;Q92186	.;SIA8B_HUMAN	H	274;253;231	ENSP00000268164:R274H;ENSP00000437382:R253H;ENSP00000450851:R231H	ENSP00000268164:R274H	R	+	2	0	ST8SIA2	90789142	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.572000	0.98179	2.514000	0.84764	0.561000	0.74099	CGC		0.622	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		19	48	0	0	0	1	0	19	48				
ZNF14	7561	broad.mit.edu	37	19	19822991	19822991	+	Nonsense_Mutation	SNP	G	G	A	rs201808599		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822991G>A	ENST00000344099.3	-	4	1237	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTGCCACATCGTTTACATTCA	0.363																																						ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1099-1101)Cga>Tga		zinc finger protein 14							90.0	89.0	89.0					19																	19822991		2203	4300	6503	SO:0001587	stop_gained	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822991G>A	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1099C>T	19.37:g.19822991G>A	ENSP00000340514:p.Arg367*						p.R367*	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1237	-		Renal(1328;0.0474)	367					B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	c.1099C>T	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714271	0.68730	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.86	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.2682	0.10773	0.0:0.2192:0.3391:0.4417	.	.	.	.	X	367	.	ENSP00000340514:R367X	R	-	1	2	ZNF14	19683991	0.000000	0.05858	0.019000	0.16419	0.223000	0.24884	-1.113000	0.03296	-0.373000	0.07979	0.467000	0.42956	CGA		0.363	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		27	48	0	0	0	1	0	27	48				
RGS12	6002	broad.mit.edu	37	4	3419179	3419179	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3419179A>G	ENST00000344733.5	+	9	3576	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	RGS12_ENST00000538395.1_Missense_Mutation_p.K233R|RGS12_ENST00000306648.7_Missense_Mutation_p.K289R|RGS12_ENST00000338806.4_Missense_Mutation_p.K243R|RGS12_ENST00000382788.3_Missense_Mutation_p.K891R|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.K891R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	891					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCGAGAAGAAGCGGAAA	0.537																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2671-2673)aAg>aGg		regulator of G-protein signaling 12							54.0	56.0	56.0					4																	3419179		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419179A>G	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2672A>G	4.37:g.3419179A>G	ENSP00000339381:p.Lys891Arg					RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.K891R|RGS12_ENST00000344733.5_Missense_Mutation_p.K891R|RGS12_ENST00000338806.4_Missense_Mutation_p.K243R|RGS12_ENST00000306648.7_Missense_Mutation_p.K289R|RGS12_ENST00000538395.1_Missense_Mutation_p.K233R	p.K891R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3576	+			891					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2672A>G	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	8.678	0.904341	0.17760	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37411	1.53;1.52;1.52;1.2;1.23;1.24	4.34	0.255	0.15561	.	0.266542	0.36893	N	0.002352	T	0.20088	0.0483	N	0.17723	0.515	0.31225	N	0.696947	B;B;B;B;B;B;B;B;B	0.20988	0.001;0.014;0.001;0.014;0.009;0.003;0.004;0.05;0.005	B;B;B;B;B;B;B;B;B	0.23574	0.007;0.012;0.005;0.012;0.017;0.011;0.02;0.047;0.018	T	0.12477	-1.0546	10	0.32370	T	0.25	-16.7384	7.762	0.28957	0.6025:0.0:0.3975:0.0	.	233;90;233;90;233;243;289;891;891	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	R	891;891;891;289;243;233	ENSP00000339381:K891R;ENSP00000338509:K891R;ENSP00000372238:K891R;ENSP00000304459:K289R;ENSP00000342133:K243R;ENSP00000438888:K233R	ENSP00000304459:K289R	K	+	2	0	RGS12	3388977	1.000000	0.71417	0.235000	0.24058	0.141000	0.21300	0.990000	0.29642	-0.193000	0.10415	-0.371000	0.07208	AAG		0.537	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		5	48	0	0	0	1	0	5	48				
ZNF471	57573	broad.mit.edu	37	19	57036320	57036320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57036320G>A	ENST00000308031.5	+	5	1017	c.884G>A	c.(883-885)tGc>tAc	p.C295Y	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.A155T	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGTAAGGAATGCAGAAAAGCC	0.383																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(883-885)tGc>tAc		zinc finger protein 471							115.0	124.0	121.0					19																	57036320		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036320G>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.884G>A	19.37:g.57036320G>A	ENSP00000309161:p.Cys295Tyr					ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.A155T	p.C295Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1017	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	295					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.884G>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969548	0.53614	.	.	ENSG00000196263	ENST00000308031	D	0.85861	-2.04	4.19	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93756	0.8004	H	0.94771	3.58	0.23747	N	0.996958	D	0.89917	1.0	D	0.91635	0.999	D	0.85580	0.1239	9	0.87932	D	0	.	10.5787	0.45242	0.0966:0.0:0.9034:0.0	.	295	Q9BX82	ZN471_HUMAN	Y	295	ENSP00000309161:C295Y	ENSP00000309161:C295Y	C	+	2	0	ZNF471	61728132	1.000000	0.71417	0.578000	0.28575	0.939000	0.58152	5.824000	0.69279	0.973000	0.38340	0.462000	0.41574	TGC		0.383	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		51	105	0	0	0	1	0	51	105				
SLC6A3	6531	broad.mit.edu	37	5	1441573	1441573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1441573C>T	ENST00000270349.9	-	3	446	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V107I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	107					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAGCAATGACCATGAAGAGC	0.587																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(319-321)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						54.0	48.0	50.0					5																	1441573		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1441573C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.319G>A	5.37:g.1441573C>T	ENSP00000270349:p.Val107Ile					SLC6A3_ENST00000453492.2_Missense_Mutation_p.V107I	p.V107I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		3	446	-			107					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.319G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	7.102	0.574214	0.13623	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.72835	-0.69;-0.69;-0.69	3.64	3.64	0.41730	.	0.289221	0.31963	N	0.006796	T	0.46964	0.1420	N	0.11341	0.13	0.49582	D	0.9998	B	0.06786	0.001	B	0.19666	0.026	T	0.43925	-0.9361	10	0.02654	T	1	.	13.1558	0.59516	0.0:1.0:0.0:0.0	.	107	Q01959	SC6A3_HUMAN	I	107;107;33	ENSP00000270349:V107I;ENSP00000399806:V107I;ENSP00000429101:V33I	ENSP00000270349:V107I	V	-	1	0	SLC6A3	1494573	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.064000	0.41432	1.735000	0.51646	0.561000	0.74099	GTC		0.587	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		3	37	0	0	0	1	0	3	37				
DNMT1	1786	broad.mit.edu	37	19	10254557	10254557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10254557G>T	ENST00000340748.4	-	28	3188	c.2953C>A	c.(2953-2955)Ctg>Atg	p.L985M	DNMT1_ENST00000359526.4_Missense_Mutation_p.L1001M|DNMT1_ENST00000540357.1_Missense_Mutation_p.L985M|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	985	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGGGCATCCAGGTTGCTGCCT	0.562																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2953-2955)Ctg>Atg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						262.0	241.0	248.0					19																	10254557		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10254557G>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2953C>A	19.37:g.10254557G>T	ENSP00000345739:p.Leu985Met					DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.L985M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1001M	p.L985M			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		28	3188	-			985			BAH 2.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2953C>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103841	0.76983	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.24908	1.83;1.83;1.83	5.91	2.69	0.31865	Bromo adjacent homology (BAH) domain (3);	0.075145	0.56097	D	0.000037	T	0.43897	0.1268	M	0.76574	2.34	0.49915	D	0.99983	D;D;P	0.57257	0.979;0.979;0.953	P;P;P	0.62649	0.847;0.847;0.905	T	0.20672	-1.0268	10	0.33940	T	0.23	.	10.4018	0.44233	0.213:0.0:0.787:0.0	.	985;1001;985	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	1001;985;985;853	ENSP00000352516:L1001M;ENSP00000440457:L985M;ENSP00000345739:L985M	ENSP00000345739:L985M	L	-	1	2	DNMT1	10115557	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.806000	0.62569	0.422000	0.26005	-0.140000	0.14226	CTG		0.562	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		34	198	1	0	1.36161e-19	1	1.78291e-19	34	198				
SENP6	26054	broad.mit.edu	37	6	76385598	76385598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76385598G>T	ENST00000447266.2	+	13	1927	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	SENP6_ENST00000370014.3_Missense_Mutation_p.E483D|SENP6_ENST00000370010.2_Missense_Mutation_p.E476D|SENP6_ENST00000327284.8_Missense_Mutation_p.E476D|SENP6_ENST00000541192.1_Missense_Mutation_p.E79D	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	483					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCCTGTAGAGATTATATTAA	0.343																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1447-1449)gaG>gaT		SUMO1/sentrin specific peptidase 6							67.0	63.0	64.0					6																	76385598		1819	4064	5883	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76385598G>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1449G>T	6.37:g.76385598G>T	ENSP00000402527:p.Glu483Asp					SENP6_ENST00000447266.2_Missense_Mutation_p.E483D|SENP6_ENST00000327284.8_Missense_Mutation_p.E476D|SENP6_ENST00000370010.2_Missense_Mutation_p.E476D|SENP6_ENST00000541192.1_Missense_Mutation_p.E79D	p.E483D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			13	2068	+		all_hematologic(105;0.189)	483					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1449G>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389129	0.25118	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.36878	2.39;2.43;1.24;2.4;1.25;1.23	5.26	2.41	0.29592	.	0.375463	0.32655	N	0.005803	T	0.09069	0.0224	L	0.31926	0.97	0.33304	D	0.565233	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.19148	0.024;0.002;0.006	T	0.20207	-1.0282	10	0.22109	T	0.4	1.0E-4	5.789	0.18349	0.0695:0.2599:0.5359:0.1347	.	476;483;476	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	D	476;483;332;476;483;373;79	ENSP00000359027:E476D;ENSP00000359031:E483D;ENSP00000321820:E476D;ENSP00000402527:E483D;ENSP00000391426:E373D;ENSP00000441715:E79D	ENSP00000321820:E476D	E	+	3	2	SENP6	76442318	1.000000	0.71417	0.997000	0.53966	0.605000	0.37080	0.449000	0.21744	0.187000	0.20147	-0.188000	0.12872	GAG		0.343	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		19	41	1	0	3.99206e-14	1	5.08633e-14	19	41				
TTN	7273	broad.mit.edu	37	2	179582375	179582375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179582375G>T	ENST00000591111.1	-	85	24499	c.24275C>A	c.(24274-24276)tCt>tAt	p.S8092Y	TTN_ENST00000342992.6_Missense_Mutation_p.S7165Y|TTN_ENST00000589042.1_Missense_Mutation_p.S8409Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12281	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAACAAAAGATGTCTGCAA	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25225-25227)tCt>tAt		titin							69.0	68.0	69.0					2																	179582375		1877	4107	5984	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582375G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24275C>A	2.37:g.179582375G>T	ENSP00000465570:p.Ser8092Tyr					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7165Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8092Y	p.S8409Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25450	-			8092			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25226C>A		.	.	.	.	.	.	.	.	.	.	G	8.513	0.866966	0.17250	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75568	0.3867	L	0.60904	1.88	0.80722	D	1	D	0.67145	0.996	P	0.54100	0.742	T	0.77861	-0.2430	9	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	8092	Q8WZ42	TITIN_HUMAN	Y	7165	ENSP00000343764:S7165Y	ENSP00000343764:S7165Y	S	-	2	0	TTN	179290620	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.449000	0.52950	2.738000	0.93877	0.655000	0.94253	TCT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	18	1	0	2.80697e-09	1	3.39963e-09	12	18				
WDR7	23335	broad.mit.edu	37	18	54424345	54424345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54424345G>T	ENST00000254442.3	+	15	2732	c.2521G>T	c.(2521-2523)Gga>Tga	p.G841*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.G841*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	841					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTTGTCAAGAGGAGGCCATAT	0.512																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(2521-2523)Gga>Tga		WD repeat domain 7							182.0	165.0	171.0					18																	54424345		2203	4300	6503	SO:0001587	stop_gained	23335							g.chr18:54424345G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2521G>T	18.37:g.54424345G>T	ENSP00000254442:p.Gly841*					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.G841*	p.G841*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2732	+			841					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP	ENST00000254442.3	37	c.2521G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	43	9.973090	0.99308	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	.	.	.	5.89	5.89	0.94794	.	0.053656	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	19.8527	0.96746	0.0:0.0:1.0:0.0	.	.	.	.	X	841;841;166;841	.	ENSP00000254442:G841X	G	+	1	0	WDR7	52575343	1.000000	0.71417	0.999000	0.59377	0.781000	0.44180	9.694000	0.98686	2.783000	0.95769	0.655000	0.94253	GGA		0.512	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			5	132	1	0	0.014758	1	0.0152625	5	132				
LRRN3	54674	broad.mit.edu	37	7	110764150	110764150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764150C>A	ENST00000422987.3	+	2	2153	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S441Y|LRRN3_ENST00000451085.1_Missense_Mutation_p.S441Y|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	441	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTATGTTTCCTTTCACTGT	0.433																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1321-1323)tCc>tAc		leucine rich repeat neuronal 3							126.0	133.0	130.0					7																	110764150		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764150C>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1322C>A	7.37:g.110764150C>A	ENSP00000412417:p.Ser441Tyr					LRRN3_ENST00000422987.3_Missense_Mutation_p.S441Y|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S441Y	p.S441Y	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2368	+			441			Ig-like C2-type.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1322C>A	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805847	0.16467	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.68331	-0.32;-0.32;-0.32	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	T	0.76097	0.3940	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.66052	-0.6019	10	0.05351	T	0.99	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	441	Q9H3W5	LRRN3_HUMAN	Y	441	ENSP00000312001:S441Y;ENSP00000397312:S441Y;ENSP00000412417:S441Y	ENSP00000312001:S441Y	S	+	2	0	LRRN3	110551386	1.000000	0.71417	0.866000	0.34008	0.583000	0.36354	5.999000	0.70665	2.937000	0.99478	0.650000	0.86243	TCC		0.433	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		9	200	1	0	0.000673444	1	0.000724755	9	200				
XPO6	23214	broad.mit.edu	37	16	28123322	28123322	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28123322C>A	ENST00000304658.5	-	17	2657	c.2157G>T	c.(2155-2157)caG>caT	p.Q719H	XPO6_ENST00000565698.1_Missense_Mutation_p.Q705H	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	719					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACACCAACACCTGGGCCTACA	0.602																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2155-2157)caG>caT		exportin 6							34.0	37.0	36.0					16																	28123322		2045	4177	6222	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28123322C>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2157G>T	16.37:g.28123322C>A	ENSP00000302790:p.Gln719His					XPO6_ENST00000565698.1_Missense_Mutation_p.Q705H	p.Q719H	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			17	2657	-			719					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2157G>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874324	0.33069	.	.	ENSG00000169180	ENST00000304658	T	0.69175	-0.38	5.77	3.83	0.44106	Armadillo-like helical (1);Armadillo-type fold (1);	0.052581	0.85682	D	0.000000	T	0.43897	0.1268	N	0.14661	0.345	0.45777	D	0.998667	B;B	0.12630	0.006;0.006	B;B	0.08055	0.003;0.003	T	0.26224	-1.0109	10	0.12766	T	0.61	-14.0145	9.6328	0.39789	0.0:0.834:0.0:0.166	.	719;719	B7ZM10;Q96QU8	.;XPO6_HUMAN	H	719	ENSP00000302790:Q719H	ENSP00000302790:Q719H	Q	-	3	2	XPO6	28030823	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.705000	0.47127	1.463000	0.47967	0.650000	0.86243	CAG		0.602	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		3	7	1	0	0.004672	1	0.0049138	3	7				
STMN1	3925	broad.mit.edu	37	1	26227579	26227579	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26227579C>A	ENST00000399728.1	-	5	742		c.e5-1		STMN1_ENST00000426559.2_Intron|STMN1_ENST00000357865.2_Splice_Site|STMN1_ENST00000455785.2_Splice_Site|STMN1_ENST00000374291.1_Splice_Site|STMN1_ENST00000465604.1_Splice_Site	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1						axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCTTATCCTGTAAAGGAA	0.443																																						ENST00000399728.1																			0				breast(2)|large_intestine(2)|skin(2)	6						c.e5-1		stathmin 1							184.0	171.0	175.0					1																	26227579		2203	4300	6503	SO:0001630	splice_region_variant	3925				cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding	g.chr1:26227579C>A	J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.379-1G>T	1.37:g.26227579C>A						STMN1_ENST00000426559.2_Intron|STMN1_ENST00000455785.2_Splice_Site|STMN1_ENST00000374291.1_Splice_Site|STMN1_ENST00000357865.2_Splice_Site|STMN1_ENST00000465604.1_Splice_Site		NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)	5	742	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)						A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Splice_Site	SNP	ENST00000399728.1	37		CCDS269.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438102	0.62955	.	.	ENSG00000117632	ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9814	0.92756	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STMN1	26100166	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.163000	0.77524	2.641000	0.89580	0.561000	0.74099	.		0.443	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	NM_005563	Intron	13	105	1	0	1.05317e-09	1	1.28483e-09	13	105				
PITPNM2	57605	broad.mit.edu	37	12	123477114	123477114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123477114G>T	ENST00000542749.1	-	14	2399	c.2336C>A	c.(2335-2337)gCc>gAc	p.A779D	PITPNM2_ENST00000392428.1_Missense_Mutation_p.A500D|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A779D|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A779D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	779	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCGGCAGGGCGTGAAAGCG	0.682																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2335-2337)gCc>gAc		phosphatidylinositol transfer protein, membrane-associated 2							51.0	52.0	51.0					12																	123477114		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123477114G>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2336C>A	12.37:g.123477114G>T	ENSP00000437611:p.Ala779Asp					PITPNM2_ENST00000392428.1_Missense_Mutation_p.A500D|PITPNM2_ENST00000542749.1_Missense_Mutation_p.A779D|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A779D	p.A779D			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	15	2541	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		779			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2336C>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	7.425	0.637608	0.14386	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.42513	1.28;1.3;0.97;1.3	3.95	3.05	0.35203	DDHD (2);	0.618706	0.15854	N	0.241338	T	0.22044	0.0531	N	0.11131	0.1	0.26444	N	0.975726	B;B	0.32467	0.214;0.372	B;B	0.36567	0.139;0.228	T	0.10753	-1.0616	10	0.35671	T	0.21	-21.55	3.2555	0.06830	0.2393:0.2434:0.5173:0.0	.	779;779	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	D	779;779;500;779	ENSP00000280562:A779D;ENSP00000322218:A779D;ENSP00000376223:A500D;ENSP00000437611:A779D	ENSP00000280562:A779D	A	-	2	0	PITPNM2	122043067	0.998000	0.40836	0.990000	0.47175	0.038000	0.13279	2.837000	0.48191	0.832000	0.34804	0.462000	0.41574	GCC		0.682	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		7	40	1	0	2.0095e-06	1	2.31757e-06	7	40				
ATP4A	495	broad.mit.edu	37	19	36053484	36053484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36053484C>T	ENST00000262623.3	-	4	301	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	91					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GTGGTGGCCGCAGTGCGTTGG	0.706																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(271-273)ctG>ctA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						17.0	18.0	18.0					19																	36053484		2196	4296	6492	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36053484C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.273G>A	19.37:g.36053484C>T							p.L91L	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	301	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		91					O00738	Silent	SNP	ENST00000262623.3	37	c.273G>A	CCDS12467.1																																																																																				0.706	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	5	0	0	0	1	0	7	5				
INIP	58493	broad.mit.edu	37	9	115451815	115451815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115451815C>T	ENST00000374242.4	-	4	516	c.211G>A	c.(211-213)Gct>Act	p.A71T	INIP_ENST00000374236.1_Missense_Mutation_p.A41T|INIP_ENST00000374238.1_Intron|INIP_ENST00000374234.1_Intron|INIP_ENST00000497712.2_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	71					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											ACCTGCAAAGCTGCCTTCTGT	0.478																																						ENST00000374242.4																			0											c.(211-213)Gct>Act		INTS3 and NABP interacting protein							117.0	102.0	107.0					9																	115451815		2203	4300	6503	SO:0001583	missense	58493							g.chr9:115451815C>T	AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.211G>A	9.37:g.115451815C>T	ENSP00000363360:p.Ala71Thr					INIP_ENST00000374234.1_Intron|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_Intron|INIP_ENST00000374236.1_Missense_Mutation_p.A41T	p.A71T	NM_021218.1	NP_067041.1					4	516	-								Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	ENST00000374242.4	37	c.211G>A	CCDS6785.1	.	.	.	.	.	.	.	.	.	.	C	36	5.715345	0.96830	.	.	ENSG00000148153	ENST00000374242;ENST00000374236	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	M	0.77820	2.39	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.84012	0.0349	9	0.87932	D	0	-15.5254	19.9465	0.97184	0.0:1.0:0.0:0.0	.	71	Q9NRY2	SOSSC_HUMAN	T	71;41	.	ENSP00000363353:A41T	A	-	1	0	C9orf80	114491636	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	6.582000	0.74049	2.885000	0.99019	0.579000	0.79373	GCT		0.478	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218		22	37	0	0	0	1	0	22	37				
COL7A1	1294	broad.mit.edu	37	3	48619141	48619141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48619141G>A	ENST00000328333.8	-	48	4827	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1574W|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1574	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACTTACCCGTTCCCCTTGG	0.582																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4720-4722)Cgg>Tgg		collagen, type VII, alpha 1							160.0	162.0	161.0					3																	48619141		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619141G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4720C>T	3.37:g.48619141G>A	ENSP00000332371:p.Arg1574Trp					COL7A1_ENST00000454817.1_Missense_Mutation_p.R1574W	p.R1574W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	48	4827	-			1574			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4720C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	8.119	0.780574	0.16120	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93604	-3.25;-3.25	5.11	0.784	0.18578	.	0.634797	0.12565	N	0.457863	D	0.95768	0.8623	M	0.83483	2.645	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87638	0.2520	10	0.62326	D	0.03	.	7.0275	0.24948	0.0832:0.0:0.514:0.4028	.	1574	Q02388	CO7A1_HUMAN	W	1574	ENSP00000332371:R1574W;ENSP00000412569:R1574W	ENSP00000332371:R1574W	R	-	1	2	COL7A1	48594145	0.008000	0.16893	0.226000	0.23910	0.052000	0.14988	1.616000	0.36933	0.541000	0.28827	-0.136000	0.14681	CGG		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		8	95	0	0	0	1	0	8	95				
PLCG1	5335	broad.mit.edu	37	20	39796515	39796515	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39796515T>C	ENST00000373271.1	+	20	2730	c.2325T>C	c.(2323-2325)taT>taC	p.Y775Y	PLCG1_ENST00000373272.2_Silent_p.Y775Y|PLCG1_ENST00000244007.3_Silent_p.Y775Y	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	775					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGGCCCTGTATGAGGGACGCA	0.557																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2323-2325)taT>taC		phospholipase C, gamma 1							75.0	68.0	70.0					20																	39796515		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39796515T>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2325T>C	20.37:g.39796515T>C						PLCG1_ENST00000373271.1_Silent_p.Y775Y|PLCG1_ENST00000244007.3_Silent_p.Y775Y	p.Y775Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			20	2730	+		Myeloproliferative disorder(115;0.00878)	775					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.2325T>C	CCDS13314.1																																																																																				0.557	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		15	22	0	0	0	1	0	15	22				
ASH1L	55870	broad.mit.edu	37	1	155317611	155317611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155317611C>T	ENST00000368346.3	-	20	8293	c.7654G>A	c.(7654-7656)Gcc>Acc	p.A2552T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2547T|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2552					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAATCTGGGCTGATGCCTCA	0.488																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7654-7656)Gcc>Acc		ash1 (absent, small, or homeotic)-like (Drosophila)							197.0	160.0	173.0					1																	155317611		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155317611C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7654G>A	1.37:g.155317611C>T	ENSP00000357330:p.Ala2552Thr					ASH1L_ENST00000392403.3_Missense_Mutation_p.A2547T	p.A2552T			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		20	8293	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2552					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7654G>A		.	.	.	.	.	.	.	.	.	.	C	26.8	4.772029	0.90108	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.19394	2.15;2.15	5.4	5.4	0.78164	Bromodomain (3);	0.050857	0.85682	D	0.000000	T	0.11495	0.0280	N	0.08118	0	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.51055	0.456;0.657	T	0.15037	-1.0451	10	0.31617	T	0.26	.	18.9481	0.92630	0.0:1.0:0.0:0.0	.	2552;2547	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	2552;2547	ENSP00000357330:A2552T;ENSP00000376204:A2547T	ENSP00000357330:A2552T	A	-	1	0	ASH1L	153584235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.083000	0.76859	2.809000	0.96659	0.655000	0.94253	GCC		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		51	82	0	0	0	1	0	51	82				
SEMA3A	10371	broad.mit.edu	37	7	83592606	83592606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592606C>A	ENST00000265362.4	-	16	2089	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.S592I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	592	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAAAAATGTGCTACTATTCTC	0.438																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1774-1776)aGc>aTc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							133.0	127.0	129.0					7																	83592606		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83592606C>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1775G>T	7.37:g.83592606C>A	ENSP00000265362:p.Ser592Ile					SEMA3A_ENST00000436949.1_Missense_Mutation_p.S592I	p.S592I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			16	2089	-			592			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1775G>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615142	0.87359	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01981	4.52;4.52	6.05	6.05	0.98169	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069758	0.85682	D	0.000000	T	0.12305	0.0299	M	0.84948	2.725	0.58432	D	0.999999	D	0.58620	0.983	P	0.58820	0.846	T	0.00079	-1.2112	10	0.44086	T	0.13	.	16.0133	0.80420	0.0:0.8664:0.1336:0.0	.	592	Q14563	SEM3A_HUMAN	I	592	ENSP00000265362:S592I;ENSP00000415260:S592I	ENSP00000265362:S592I	S	-	2	0	SEMA3A	83430542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.440000	0.80464	2.878000	0.98634	0.650000	0.86243	AGC		0.438	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		9	125	1	0	0.307466	1	0.308846	9	125				
SYT14	255928	broad.mit.edu	37	1	210329132	210329132	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210329132C>A	ENST00000472886.1	+	7	1245	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	SYT14_ENST00000534859.1_Missense_Mutation_p.L411I|SYT14_ENST00000399639.2_Missense_Mutation_p.L411I|SYT14_ENST00000422431.1_Missense_Mutation_p.L456I|SYT14_ENST00000537238.1_Missense_Mutation_p.L373I|SYT14_ENST00000367015.1_Missense_Mutation_p.L373I|SYT14_ENST00000367019.1_Missense_Mutation_p.L411I|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	411					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGTCAGTCTCTTGAACATGG	0.388																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(1117-1119)Ctt>Att		synaptotagmin XIV							112.0	109.0	110.0					1																	210329132		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210329132C>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1231C>A	1.37:g.210329132C>A	ENSP00000418901:p.Leu411Ile					SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.L411I|SYT14_ENST00000534859.1_Missense_Mutation_p.L411I|SYT14_ENST00000422431.1_Missense_Mutation_p.L456I|SYT14_ENST00000367015.1_Missense_Mutation_p.L373I|SYT14_ENST00000367019.1_Missense_Mutation_p.L411I|SYT14_ENST00000472886.1_Missense_Mutation_p.L411I	p.L373I	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1508	+			411			C2 1.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1117C>A	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722264	0.48728	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.21191	3.22;3.09;2.02;3.37;3.09;3.38;3.37	4.77	4.77	0.60923	.	0.153629	0.44483	D	0.000454	T	0.22360	0.0539	L	0.57536	1.79	0.41969	D	0.99074	B;B;B;P	0.36789	0.435;0.212;0.356;0.57	B;B;B;B	0.32211	0.067;0.04;0.104;0.142	T	0.05649	-1.0872	10	0.26408	T	0.33	-8.5756	17.7908	0.88552	0.0:1.0:0.0:0.0	.	439;411;411;456	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	I	456;411;411;373;411;411;373	ENSP00000389039:L456I;ENSP00000442891:L411I;ENSP00000445837:L411I;ENSP00000437423:L373I;ENSP00000355986:L411I;ENSP00000418901:L411I;ENSP00000355982:L373I	ENSP00000355982:L373I	L	+	1	0	SYT14	208395755	0.998000	0.40836	0.993000	0.49108	0.963000	0.63663	4.009000	0.57110	2.191000	0.70037	0.467000	0.42956	CTT		0.388	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		23	58	1	0	3.62473e-10	1	4.44982e-10	23	58				
TJP3	27134	broad.mit.edu	37	19	3728653	3728653	+	Missense_Mutation	SNP	G	G	A	rs565530437		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3728653G>A	ENST00000541714.2	+	3	562	c.100G>A	c.(100-102)Ggt>Agt	p.G34S	TJP3_ENST00000587686.1_Missense_Mutation_p.G53S|TJP3_ENST00000539908.2_De_novo_Start_OutOfFrame|TJP3_ENST00000589378.1_Missense_Mutation_p.G43S|TJP3_ENST00000262968.9_Missense_Mutation_p.G53S|TJP3_ENST00000382008.3_Missense_Mutation_p.G34S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	34	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCGGCCCGGTGGATCCAT	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16676	0.0		0.0	False		,,,				2504	0.0					ENST00000539908.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26								tight junction protein 3							36.0	39.0	38.0					19																	3728653		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3728653G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.100G>A	19.37:g.3728653G>A	ENSP00000439278:p.Gly34Ser					TJP3_ENST00000587686.1_Missense_Mutation_p.G53S|TJP3_ENST00000589378.1_Missense_Mutation_p.G43S|TJP3_ENST00000262968.9_Missense_Mutation_p.G53S|TJP3_ENST00000541714.2_Missense_Mutation_p.G34S|TJP3_ENST00000382008.3_Missense_Mutation_p.G34S				O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	0	111	+								A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Translation_Start_Site	SNP	ENST00000541714.2	37		CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	6.581	0.475550	0.12521	.	.	ENSG00000105289	ENST00000541714;ENST00000382008;ENST00000262968	T;T;T	0.25912	1.77;1.77;1.77	4.02	-6.26	0.02033	PDZ/DHR/GLGF (4);	0.940554	0.08999	N	0.863349	T	0.06690	0.0171	N	0.00621	-1.32	0.09310	N	1	B;B;B;B	0.15473	0.013;0.012;0.006;0.013	B;B;B;B	0.10450	0.005;0.004;0.004;0.005	T	0.45264	-0.9273	10	0.22109	T	0.4	.	12.0623	0.53568	0.6512:0.0:0.3488:0.0	.	53;53;34;34	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	S	34;34;53	ENSP00000439278:G34S;ENSP00000371438:G34S;ENSP00000262968:G53S	ENSP00000262968:G53S	G	+	1	0	TJP3	3679653	0.000000	0.05858	0.001000	0.08648	0.462000	0.32619	-0.228000	0.09114	-0.860000	0.04099	-0.390000	0.06520	GGT		0.642	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			18	26	0	0	0	1	0	18	26				
ANGPTL6	83854	broad.mit.edu	37	19	10206720	10206720	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10206720G>C	ENST00000253109.4	-	2	758	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.Q174E|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.Q174E	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	174					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AGACTGCTCTGCTGGGTGACG	0.716																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(520-522)Cag>Gag		angiopoietin-like 6							9.0	10.0	9.0					19																	10206720		1924	3806	5730	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10206720G>C	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.520C>G	19.37:g.10206720G>C	ENSP00000253109:p.Gln174Glu					ANGPTL6_ENST00000592641.1_Missense_Mutation_p.Q174E|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.Q174E	p.Q174E	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		2	758	-			174					A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.520C>G	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304302	0.60305	.	.	ENSG00000130812	ENST00000253109	T	0.58652	0.32	4.89	4.89	0.63831	.	0.335796	0.28273	N	0.015943	T	0.51873	0.1700	L	0.46157	1.445	0.58432	D	0.999995	P	0.46784	0.884	B	0.38842	0.283	T	0.60974	-0.7156	10	0.66056	D	0.02	.	16.8132	0.85726	0.0:0.0:1.0:0.0	.	174	Q8NI99	ANGL6_HUMAN	E	174	ENSP00000253109:Q174E	ENSP00000253109:Q174E	Q	-	1	0	ANGPTL6	10067720	1.000000	0.71417	0.997000	0.53966	0.275000	0.26752	6.939000	0.75911	2.232000	0.73038	0.455000	0.32223	CAG		0.716	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		11	13	0	0	0	1	0	11	13				
ANGEL1	23357	broad.mit.edu	37	14	77272762	77272762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77272762C>T	ENST00000251089.2	-	5	1489	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*	ANGEL1_ENST00000557179.1_5'Flank|ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	459										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ATTTCACCTTCCAGGCTGGCA	0.537																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1375-1377)tgG>tgA		angel homolog 1 (Drosophila)							78.0	64.0	69.0					14																	77272762		2203	4300	6503	SO:0001587	stop_gained	23357							g.chr14:77272762C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1377G>A	14.37:g.77272762C>T	ENSP00000251089:p.Trp459*						p.W459*	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1489	-			459					B4DWL7|O94859|Q8NCS9	Nonsense_Mutation	SNP	ENST00000251089.2	37	c.1377G>A	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	40	8.486139	0.98832	.	.	ENSG00000013523	ENST00000251089	.	.	.	5.96	5.96	0.96718	.	0.122288	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-2.3785	13.5937	0.61975	0.0:0.9296:0.0:0.0704	.	.	.	.	X	459	.	ENSP00000251089:W459X	W	-	3	0	ANGEL1	76342515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.981000	0.63819	2.832000	0.97577	0.655000	0.94253	TGG		0.537	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		8	26	0	0	0	1	0	8	26				
NSL1	25936	broad.mit.edu	37	1	212964948	212964948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212964948C>T	ENST00000366977.3	-	1	176	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	TATDN3_ENST00000526641.1_5'Flank|TATDN3_ENST00000531963.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000366978.1_5'Flank|NSL1_ENST00000473995.1_5'UTR|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000530441.1_5'Flank|NSL1_ENST00000366976.1_Missense_Mutation_p.C53Y|TATDN3_ENST00000526997.1_5'Flank|NSL1_ENST00000422588.2_Missense_Mutation_p.C53Y|NSL1_ENST00000366975.6_Missense_Mutation_p.C53Y	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	53					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GAAGCGGCCGCACAGTTGTAG	0.637																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(157-159)tGc>tAc		NSL1, MIS12 kinetochore complex component							83.0	91.0	88.0					1																	212964948		2201	4300	6501	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964948C>T	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.158G>A	1.37:g.212964948C>T	ENSP00000355944:p.Cys53Tyr					NSL1_ENST00000422588.2_Missense_Mutation_p.C53Y|NSL1_ENST00000366975.6_Missense_Mutation_p.C53Y|NSL1_ENST00000366976.1_Missense_Mutation_p.C53Y|NSL1_ENST00000473995.1_5'UTR	p.C53Y	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	176	-			53					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.158G>A	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383499	0.25031	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	T;T;T;T	0.48522	1.41;0.81;1.34;0.85	5.13	5.13	0.70059	.	0.169358	0.56097	D	0.000033	T	0.65606	0.2707	M	0.68952	2.095	0.48632	D	0.999681	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.64655	-0.6356	9	.	.	.	-8.8636	13.9695	0.64230	0.0:1.0:0.0:0.0	.	53;53;53	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	Y	53	ENSP00000355944:C53Y;ENSP00000388406:C53Y;ENSP00000355942:C53Y;ENSP00000355943:C53Y	.	C	-	2	0	NSL1	211031571	1.000000	0.71417	0.988000	0.46212	0.061000	0.15899	3.496000	0.53288	2.656000	0.90262	0.655000	0.94253	TGC		0.637	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		86	103	0	0	0	1	0	86	103				
SIGLEC9	27180	broad.mit.edu	37	19	51628933	51628933	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51628933C>A	ENST00000250360.3	+	2	568	c.501C>A	c.(499-501)ccC>ccA	p.P167P	SIGLEC9_ENST00000440804.3_Silent_p.P167P	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	167	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCTCTGTGCCCTGGGCCTGTG	0.657																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(499-501)ccC>ccA		sialic acid binding Ig-like lectin 9							99.0	99.0	99.0					19																	51628933		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628933C>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.501C>A	19.37:g.51628933C>A						SIGLEC9_ENST00000250360.3_Silent_p.P167P	p.P167P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	2	568	+		all_neural(266;0.0529)	167			Ig-like C2-type 1.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.501C>A	CCDS12825.1																																																																																				0.657	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		6	99	1	0	3.59834e-05	1	4.01776e-05	6	99				
DNAH11	8701	broad.mit.edu	37	7	21730484	21730484	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21730484T>C	ENST00000409508.3	+	35	6057	c.6026T>C	c.(6025-6027)cTc>cCc	p.L2009P	DNAH11_ENST00000328843.6_Missense_Mutation_p.L2016P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2016	AAA 1. {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						CCGGAAAATCTCAAAGCTCTT	0.418									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.(6046-6048)cTc>cCc		dynein, axonemal, heavy chain 11							140.0	137.0	138.0					7																	21730484		1868	4101	5969	SO:0001583	missense	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.chr7:21730484T>C	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.6026T>C	7.37:g.21730484T>C	ENSP00000475939:p.Leu2009Pro					DNAH11_ENST00000409508.3_Missense_Mutation_p.L2009P	p.L2016P			Q96DT5	DYH11_HUMAN			36	6078	+			2016			AAA 1 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6047T>C		.	.	.	.	.	.	.	.	.	.	T	23.4	4.414556	0.83449	.	.	ENSG00000105877	ENST00000328843	T	0.58940	0.3	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.061993	0.64402	D	0.000003	T	0.77890	0.4198	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80696	-0.1267	9	0.87932	D	0	.	16.4957	0.84242	0.0:0.0:0.0:1.0	.	2016	Q96DT5	DYH11_HUMAN	P	2016	ENSP00000330671:L2016P	ENSP00000330671:L2016P	L	+	2	0	DNAH11	21697009	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CTC		0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		46	136	0	0	0	1	0	46	136				
PPP1R3A	5506	broad.mit.edu	37	7	113519733	113519733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519733C>A	ENST00000284601.3	-	4	1482	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	472					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAGCTCCTCCTTCATGTTTT	0.398																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1414-1416)Gga>Tga		protein phosphatase 1, regulatory subunit 3A							53.0	54.0	54.0					7																	113519733		2203	4298	6501	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113519733C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1414G>T	7.37:g.113519733C>A	ENSP00000284601:p.Gly472*						p.G472*	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1482	-			472					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.1414G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355161	0.61293	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	.	.	.	5.89	5.01	0.66863	.	0.619662	0.15684	N	0.249768	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.2618	12.5937	0.56456	0.0:0.9237:0.0:0.0763	.	.	.	.	X	472;151	.	ENSP00000284601:G472X	G	-	1	0	PPP1R3A	113306969	0.221000	0.23642	0.889000	0.34880	0.109000	0.19521	0.393000	0.20817	1.503000	0.48686	0.563000	0.77884	GGA		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		23	65	1	0	1.10513e-12	1	1.39297e-12	23	65				
ESPL1	9700	broad.mit.edu	37	12	53686377	53686377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53686377G>T	ENST00000257934.4	+	29	6023	c.5932G>T	c.(5932-5934)Gtg>Ttg	p.V1978L	PFDN5_ENST00000351500.3_5'Flank|PFDN5_ENST00000334478.4_5'Flank|PFDN5_ENST00000550846.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.V1978L|PFDN5_ENST00000551018.1_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1978	Peptidase C50.				apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGAGAGGAGTGGTTGGGGA	0.537																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5932-5934)Gtg>Ttg		extra spindle pole bodies homolog 1 (S. cerevisiae)							90.0	88.0	88.0					12																	53686377		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53686377G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5932G>T	12.37:g.53686377G>T	ENSP00000257934:p.Val1978Leu					ESPL1_ENST00000552462.1_Missense_Mutation_p.V1978L	p.V1978L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			29	6023	+			1978						Missense_Mutation	SNP	ENST00000257934.4	37	c.5932G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454930	0.43634	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13307	2.6;2.6	4.97	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.15392	0.0371	L	0.52126	1.63	0.50313	D	0.999865	P	0.34757	0.467	B	0.33620	0.167	T	0.05886	-1.0858	10	0.87932	D	0	.	14.9896	0.71377	0.0:0.1429:0.8571:0.0	.	1978	Q14674	ESPL1_HUMAN	L	1978;1653;1978	ENSP00000257934:V1978L;ENSP00000449831:V1978L	ENSP00000257934:V1978L	V	+	1	0	ESPL1	51972644	1.000000	0.71417	0.521000	0.27850	0.455000	0.32408	7.366000	0.79548	2.482000	0.83794	0.460000	0.39030	GTG		0.537	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		9	36	1	0	6.40141e-05	1	7.11719e-05	9	36				
PRKACA	5566	broad.mit.edu	37	19	14218163	14218163	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14218163A>T	ENST00000308677.4	-	2	301	c.105T>A	c.(103-105)gcT>gcA	p.A35A	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.A27A|PRKACA_ENST00000590853.1_Silent_p.A35A	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	35					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GCCTTACCTGAGCGGGACTTT	0.527																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(103-105)gcT>gcA		protein kinase, cAMP-dependent, catalytic, alpha							97.0	109.0	105.0					19																	14218163		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14218163A>T		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.105T>A	19.37:g.14218163A>T						PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Silent_p.A35A|PRKACA_ENST00000589994.1_Silent_p.A27A	p.A35A	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			2	301	-			35					Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.105T>A	CCDS12304.1																																																																																				0.527	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		6	155	0	0	0	1	0	6	155				
ABCA6	23460	broad.mit.edu	37	17	67081189	67081189	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67081189G>A	ENST00000284425.2	-	32	4338	c.4164C>T	c.(4162-4164)gaC>gaT	p.D1388D	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1388	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGAGCCTCGCGTCCGCTTTCC	0.552																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4162-4164)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 6							67.0	47.0	54.0					17																	67081189		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67081189G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4164C>T	17.37:g.67081189G>A						ABCA6_ENST00000446604.2_5'UTR	p.D1388D	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			32	4338	-	Breast(10;5.65e-12)		1388			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4164C>T	CCDS11683.1																																																																																				0.552	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		11	9	0	0	0	1	0	11	9				
ZNF496	84838	broad.mit.edu	37	1	247463865	247463865	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247463865G>T	ENST00000294753.4	-	9	2184	c.1720C>A	c.(1720-1722)Ctg>Atg	p.L574M	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.L610M	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	574					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TTCATGTGCAGGCGCTCGTGG	0.637																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1720-1722)Ctg>Atg		zinc finger protein 496							49.0	50.0	49.0					1																	247463865		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247463865G>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1720C>A	1.37:g.247463865G>T	ENSP00000294753:p.Leu574Met					ZNF496_ENST00000366498.2_Missense_Mutation_p.L610M|ZNF496_ENST00000462139.1_5'UTR	p.L574M	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2184	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		574					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1720C>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983896	0.53827	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.52983	0.64;0.64	4.32	-1.31	0.09230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.589703	0.14014	N	0.347221	T	0.47673	0.1458	L	0.54323	1.7	0.24126	N	0.995782	P;P	0.51351	0.944;0.846	P;P	0.56042	0.79;0.629	T	0.35475	-0.9787	10	0.49607	T	0.09	-23.4273	2.3925	0.04381	0.1733:0.2672:0.4236:0.1359	.	610;574	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	M	574;610	ENSP00000294753:L574M;ENSP00000355454:L610M	ENSP00000294753:L574M	L	-	1	2	ZNF496	245530488	0.000000	0.05858	0.979000	0.43373	0.841000	0.47740	-0.929000	0.03976	-0.043000	0.13513	0.591000	0.81541	CTG		0.637	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		23	35	1	0	4.26978e-12	1	5.35206e-12	23	35				
PCDH11X	27328	broad.mit.edu	37	X	91090698	91090698	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91090698A>G	ENST00000373094.1	+	1	1040	c.195A>G	c.(193-195)ctA>ctG	p.L65L	PCDH11X_ENST00000373097.1_Silent_p.L65L|PCDH11X_ENST00000373088.1_Silent_p.L65L|PCDH11X_ENST00000361724.1_Silent_p.L65L|PCDH11X_ENST00000406881.1_Silent_p.L65L|PCDH11X_ENST00000298274.8_Silent_p.L65L|PCDH11X_ENST00000504220.2_Silent_p.L65L|PCDH11X_ENST00000395337.2_Silent_p.L65L|PCDH11X_ENST00000361655.2_Silent_p.L65L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTCAAGCTAGTGTACAAGA	0.448																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(193-195)ctA>ctG		protocadherin 11 X-linked							182.0	143.0	156.0					X																	91090698		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090698A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.195A>G	X.37:g.91090698A>G						PCDH11X_ENST00000373097.1_Silent_p.L65L|PCDH11X_ENST00000395337.2_Silent_p.L65L|PCDH11X_ENST00000406881.1_Silent_p.L65L|PCDH11X_ENST00000361724.1_Silent_p.L65L|PCDH11X_ENST00000504220.1_Silent_p.L65L|PCDH11X_ENST00000298274.8_Silent_p.L65L|PCDH11X_ENST00000361655.2_Silent_p.L65L|PCDH11X_ENST00000373088.1_Silent_p.L65L	p.L65L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1040	+			65			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.195A>G	CCDS14461.1																																																																																				0.448	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	107	0	0	0	1	0	4	107				
IRF7	3665	broad.mit.edu	37	11	612697	612697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:612697C>T	ENST00000397574.2	-	11	1829	c.1460G>A	c.(1459-1461)aGc>aAc	p.S487N	IRF7_ENST00000397562.3_Missense_Mutation_p.S194N|IRF7_ENST00000348655.6_Missense_Mutation_p.S458N|IRF7_ENST00000397566.1_Missense_Mutation_p.S500N|IRF7_ENST00000525445.1_Missense_Mutation_p.S381N|IRF7_ENST00000397570.1_Missense_Mutation_p.S458N|IRF7_ENST00000330243.5_Missense_Mutation_p.S500N	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	487					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCATAGAGGCTGTTGGCGCT	0.597																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1498-1500)aGc>aAc		interferon regulatory factor 7							64.0	73.0	70.0					11																	612697		2203	4300	6503	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:612697C>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1460G>A	11.37:g.612697C>T	ENSP00000380704:p.Ser487Asn					IRF7_ENST00000330243.5_Missense_Mutation_p.S500N|IRF7_ENST00000397570.1_Missense_Mutation_p.S458N|IRF7_ENST00000397574.2_Missense_Mutation_p.S487N|IRF7_ENST00000348655.6_Missense_Mutation_p.S458N|IRF7_ENST00000397562.3_Missense_Mutation_p.S194N|IRF7_ENST00000525445.1_Missense_Mutation_p.S381N	p.S500N	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1908	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	487					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.1499G>A	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283806	0.40394	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	D;D;D;D;D;D;D	0.96554	-3.17;-4.05;-4.05;-4.0;-4.02;-3.65;-4.0	4.47	4.47	0.54385	SMAD domain-like (1);	0.215967	0.37669	N	0.001993	D	0.94699	0.8290	N	0.14661	0.345	0.34595	D	0.715922	P;P;D;D	0.69078	0.825;0.865;0.997;0.996	B;P;D;D	0.78314	0.396;0.519;0.986;0.991	D	0.94466	0.7680	10	0.34782	T	0.22	-27.7606	8.9345	0.35691	0.0:0.896:0.0:0.104	.	381;458;487;500	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	N	381;458;458;500;487;194;500	ENSP00000434009:S381N;ENSP00000331803:S458N;ENSP00000380700:S458N;ENSP00000380697:S500N;ENSP00000380704:S487N;ENSP00000380693:S194N;ENSP00000329411:S500N	ENSP00000329411:S500N	S	-	2	0	IRF7	602697	1.000000	0.71417	0.999000	0.59377	0.161000	0.22273	0.988000	0.29616	2.218000	0.71995	0.462000	0.41574	AGC		0.597	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		3	57	0	0	0	1	0	3	57				
NGLY1	55768	broad.mit.edu	37	3	25773856	25773856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773856G>T	ENST00000280700.5	-	9	1539	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.S460Y|NGLY1_ENST00000428257.1_Missense_Mutation_p.S442Y|NGLY1_ENST00000417874.2_Missense_Mutation_p.S418Y	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	460	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACTGACCCAGATATTCTTCC	0.413																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1324-1326)tCt>tAt		N-glycanase 1							104.0	114.0	111.0					3																	25773856		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25773856G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1379C>A	3.37:g.25773856G>T	ENSP00000280700:p.Ser460Tyr					NGLY1_ENST00000280700.5_Missense_Mutation_p.S460Y|NGLY1_ENST00000417874.2_Missense_Mutation_p.S418Y|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Missense_Mutation_p.S460Y	p.S442Y	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			9	1432	-			460					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1325C>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868913	0.91587	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.72	5.72	0.89469	Peptide N glycanase, PAW domain (1);	0.048539	0.85682	D	0.000000	T	0.70833	0.3269	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.988;0.995;0.997;0.974	T	0.74734	-0.3565	10	0.87932	D	0	-17.1578	19.892	0.96932	0.0:0.0:1.0:0.0	.	418;442;460;460	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	Y	442;460;460;439;418	ENSP00000387430:S442Y;ENSP00000280700:S460Y;ENSP00000379886:S460Y;ENSP00000307980:S439Y;ENSP00000389888:S418Y	ENSP00000280700:S460Y	S	-	2	0	NGLY1	25748860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.145000	0.94634	2.704000	0.92352	0.563000	0.77884	TCT		0.413	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			6	74	1	0	7.48243e-07	1	8.70085e-07	6	74				
KLK13	26085	broad.mit.edu	37	19	51559997	51559997	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51559997T>C	ENST00000595793.1	-	5	723	c.681A>G	c.(679-681)acA>acG	p.T227T	KLK13_ENST00000595547.1_Silent_p.T154T|KLK13_ENST00000335422.3_Silent_p.T75T	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGCCATACAGTGTTCTGTTAC	0.572																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(679-681)acA>acG		kallikrein-related peptidase 13							78.0	80.0	79.0					19																	51559997		2203	4300	6503	SO:0001819	synonymous_variant	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51559997T>C		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.681A>G	19.37:g.51559997T>C						KLK13_ENST00000335422.3_Silent_p.T75T|KLK13_ENST00000595547.1_Silent_p.T154T	p.T227T	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	5	723	-		all_neural(266;0.026)	227			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Silent	SNP	ENST00000595793.1	37	c.681A>G	CCDS12822.1																																																																																				0.572	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		8	72	0	0	0	1	0	8	72				
PRDM2	7799	broad.mit.edu	37	1	14107097	14107097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14107097C>A	ENST00000235372.7	+	8	3663	c.2807C>A	c.(2806-2808)cCt>cAt	p.P936H	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P735H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P936H|PRDM2_ENST00000343137.4_Missense_Mutation_p.P735H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	936	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCCCTGCCCCTACTGTTGAG	0.562																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2806-2808)cCt>cAt		PR domain containing 2, with ZNF domain							141.0	131.0	134.0					1																	14107097		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107097C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2807C>A	1.37:g.14107097C>A	ENSP00000235372:p.Pro936His					PRDM2_ENST00000343137.4_Missense_Mutation_p.P735H|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P936H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P735H	p.P936H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3663	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	936			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2807C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312229	0.40895	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01613	4.85;4.73;4.74;4.74	5.97	5.06	0.68205	.	0.279649	0.31589	N	0.007382	T	0.05227	0.0139	L	0.54323	1.7	0.29661	N	0.843181	D;D;D	0.60575	0.979;0.979;0.988	P;P;P	0.53360	0.533;0.533;0.724	T	0.02411	-1.1163	10	0.66056	D	0.02	.	13.6836	0.62502	0.0:0.9258:0.0:0.0742	.	794;936;936	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	936;936;936;735;735	ENSP00000235372:P936H;ENSP00000312352:P936H;ENSP00000411103:P735H;ENSP00000341621:P735H	ENSP00000235372:P936H	P	+	2	0	PRDM2	13979684	0.020000	0.18652	0.552000	0.28243	0.403000	0.30841	2.811000	0.47986	1.540000	0.49301	0.655000	0.94253	CCT		0.562	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		6	103	1	0	0.00116845	1	0.00124821	6	103				
C3orf17	25871	broad.mit.edu	37	3	112732162	112732162	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112732162T>C	ENST00000314400.5	-	4	621	c.430A>G	c.(430-432)Aag>Gag	p.K144E	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Missense_Mutation_p.K8E	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	144					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGCAACAACTTGCAGGCTCCC	0.398																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(430-432)Aag>Gag		chromosome 3 open reading frame 17							119.0	125.0	123.0					3																	112732162		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112732162T>C	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.430A>G	3.37:g.112732162T>C	ENSP00000320251:p.Lys144Glu					C3orf17_ENST00000393857.2_Missense_Mutation_p.K8E|C3orf17_ENST00000383675.2_Intron	p.K144E	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			4	621	-			144					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.430A>G	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022098	0.75275	.	.	ENSG00000163608	ENST00000314400;ENST00000393857;ENST00000472166	T;T;T	0.55930	0.49;0.49;0.49	5.9	3.38	0.38709	.	0.298859	0.41396	D	0.000894	T	0.55449	0.1921	M	0.65498	2.005	0.34513	D	0.707364	P;P	0.51351	0.901;0.944	P;P	0.47645	0.553;0.553	T	0.70680	-0.4805	10	0.72032	D	0.01	-10.3858	10.8144	0.46567	0.0:0.0:0.3023:0.6977	.	33;144	E7EN80;Q6NW34	.;CC017_HUMAN	E	144;8;69	ENSP00000320251:K144E;ENSP00000377438:K8E;ENSP00000417613:K69E	ENSP00000320251:K144E	K	-	1	0	C3orf17	114214852	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.123000	0.41996	1.052000	0.40392	-0.291000	0.09656	AAG		0.398	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		18	63	0	0	0	1	0	18	63				
CDCP2	200008	broad.mit.edu	37	1	54605592	54605592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54605592G>A	ENST00000371330.1	-	4	1798	c.951C>T	c.(949-951)gaC>gaT	p.D317D	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	317	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCGCCAGATGGTCAAAGTCAC	0.637																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(949-951)gaC>gaT		CUB domain containing protein 2							33.0	35.0	35.0					1																	54605592		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54605592G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.951C>T	1.37:g.54605592G>A							p.D317D	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			4	1798	-			317			CUB 3.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.951C>T	CCDS588.2																																																																																				0.637	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		11	19	0	0	0	1	0	11	19				
IRAK3	11213	broad.mit.edu	37	12	66641677	66641677	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641677C>A	ENST00000261233.4	+	12	1938	c.1517C>A	c.(1516-1518)cCt>cAt	p.P506H	IRAK3_ENST00000457197.2_Missense_Mutation_p.P445H	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAGAAAACTCCTTTTGAATGC	0.418																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1516-1518)cCt>cAt		interleukin-1 receptor-associated kinase 3							130.0	125.0	127.0					12																	66641677		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641677C>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1517C>A	12.37:g.66641677C>A	ENSP00000261233:p.Pro506His					IRAK3_ENST00000457197.2_Missense_Mutation_p.P445H	p.P506H	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1938	+			506						Missense_Mutation	SNP	ENST00000261233.4	37	c.1517C>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951187	0.53186	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.77750	-1.11;-1.12	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	D	0.82568	0.5065	L	0.36672	1.1	0.41125	D	0.985841	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80917	-0.1168	9	.	.	.	-17.9715	15.4984	0.75677	0.0:1.0:0.0:0.0	.	445;506	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	H	506;445	ENSP00000261233:P506H;ENSP00000409852:P445H	.	P	+	2	0	IRAK3	64927944	0.841000	0.29509	0.938000	0.37757	0.191000	0.23601	3.854000	0.55949	2.724000	0.93272	0.561000	0.74099	CCT		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			38	73	1	0	1.42033e-22	1	1.8754e-22	38	73				
SPN	6693	broad.mit.edu	37	16	29675059	29675059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29675059C>T	ENST00000360121.3	+	2	102	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	SPN_ENST00000395389.2_Missense_Mutation_p.L4F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AATGGCCACGCTTCTCCTTCT	0.627																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(10-12)Ctt>Ttt		sialophorin							118.0	129.0	125.0					16																	29675059		2197	4300	6497	SO:0001583	missense	0				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675059C>T	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.10C>T	16.37:g.29675059C>T	ENSP00000353238:p.Leu4Phe					AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.L4F	p.L4F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN			2	102	+			4					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.10C>T	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	13.72	2.322623	0.41096	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.46063	0.92;0.88;0.92	4.51	1.18	0.20946	.	0.203527	0.24481	N	0.038145	T	0.22085	0.0532	L	0.29908	0.895	0.09310	N	1	P	0.39920	0.695	B	0.33254	0.16	T	0.18461	-1.0336	10	0.87932	D	0	-6.7037	2.8014	0.05415	0.1872:0.5295:0.1817:0.1017	.	4	P16150	LEUK_HUMAN	F	4	ENSP00000378787:L4F;ENSP00000412907:L4F;ENSP00000353238:L4F	ENSP00000353238:L4F	L	+	1	0	SPN	29582560	0.002000	0.14202	0.126000	0.21872	0.009000	0.06853	0.039000	0.13884	0.591000	0.29711	-0.268000	0.10319	CTT		0.627	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			80	118	0	0	0	1	0	80	118				
LARP4B	23185	broad.mit.edu	37	10	859132	859132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:859132C>T	ENST00000316157.3	-	17	1991	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	651					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CAAATCTCTGCGTAGCTGGGC	0.453																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1951-1953)Gca>Aca		La ribonucleoprotein domain family, member 4B							80.0	80.0	80.0					10																	859132		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:859132C>T	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1951G>A	10.37:g.859132C>T	ENSP00000326128:p.Ala651Thr						p.A651T	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			17	1991	-			651					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1951G>A	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.848213|5.848213	0.97023|0.97023	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368	T|.	0.55234|.	0.53|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70657|0.70657	0.3249|0.3249	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	T|T	0.63677|0.63677	-0.6583|-0.6583	10|5	0.87932|.	D|.	0|.	-0.1173|-0.1173	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	651|.	Q92615|.	LAR4B_HUMAN|.	T|H	651|251	ENSP00000326128:A651T|.	ENSP00000326128:A651T|.	A|R	-|-	1|2	0|0	LARP4B|LARP4B	849132|849132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.607000|6.607000	0.74163|0.74163	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.453	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		10	72	0	0	0	1	0	10	72				
PLEKHM3	389072	broad.mit.edu	37	2	208811164	208811164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208811164C>T	ENST00000427836.2	-	4	2108	c.1619G>A	c.(1618-1620)aGt>aAt	p.S540N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S540N|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.S540N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	540					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGCAGCTACTGCAGTAATA	0.458																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1618-1620)aGt>aAt		pleckstrin homology domain containing, family M, member 3							163.0	165.0	164.0					2																	208811164		1978	4170	6148	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208811164C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1619G>A	2.37:g.208811164C>T	ENSP00000417003:p.Ser540Asn					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S540N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S540N	p.S540N			Q6ZWE6	PKHM3_HUMAN			4	2046	-			540					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1619G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565013	0.65651	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.83914	-1.75;-1.76;-1.78	6.04	4.25	0.50352	.	0.210963	0.51477	D	0.000087	D	0.83487	0.5265	L	0.50847	1.595	0.34232	D	0.676611	P;B	0.43938	0.822;0.279	P;B	0.50896	0.653;0.122	D	0.87197	0.2238	10	0.37606	T	0.19	.	12.5265	0.56089	0.0:0.8661:0.0:0.1339	.	540;540	C9J119;Q6ZWE6	.;PKHM3_HUMAN	N	540	ENSP00000417003:S540N;ENSP00000373899:S540N;ENSP00000400150:S540N	ENSP00000373899:S540N	S	-	2	0	PLEKHM3	208519409	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.230000	0.42999	1.568000	0.49683	0.563000	0.77884	AGT		0.458	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		48	71	0	0	0	1	0	48	71				
IL21R	50615	broad.mit.edu	37	16	27460361	27460361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27460361C>T	ENST00000337929.3	+	9	1847	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	IL21R_ENST00000564089.1_Silent_p.D458D|IL21R_ENST00000395754.4_Silent_p.D458D|IL21R_ENST00000395755.1_Silent_p.D458D|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	458					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ATGGGGAGGACTGGGCTGGGG	0.662			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1372-1374)gaC>gaT		interleukin 21 receptor							28.0	33.0	32.0					16																	27460361		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460361C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1374C>T	16.37:g.27460361C>T						IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Silent_p.D458D|IL21R_ENST00000564089.1_Silent_p.D458D|IL21R_ENST00000395755.1_Silent_p.D458D	p.D458D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1847	+			458					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.1374C>T	CCDS10630.1																																																																																				0.662	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		11	24	0	0	0	1	0	11	24				
C2orf16	84226	broad.mit.edu	37	2	27801251	27801251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801251G>T	ENST00000408964.2	+	1	1863	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	604						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAATCTGAGGAGTTAGCAC	0.413																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(1810-1812)gaG>gaT		chromosome 2 open reading frame 16							58.0	54.0	55.0					2																	27801251		1853	4091	5944	SO:0001583	missense	84226							g.chr2:27801251G>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1812G>T	2.37:g.27801251G>T	ENSP00000386190:p.Glu604Asp						p.E604D	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	1863	+	Acute lymphoblastic leukemia(172;0.155)		604					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1812G>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043227	0.55003	.	.	ENSG00000221843	ENST00000408964	T	0.05925	3.37	4.8	-1.94	0.07571	.	.	.	.	.	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	0.999998	P	0.46142	0.873	B	0.43225	0.412	T	0.32161	-0.9917	9	0.59425	D	0.04	.	3.167	0.06539	0.4295:0.0:0.2548:0.3157	.	604	Q68DN1	CB016_HUMAN	D	604	ENSP00000386190:E604D	ENSP00000386190:E604D	E	+	3	2	C2orf16	27654755	0.076000	0.21285	0.384000	0.26145	0.907000	0.53573	-0.046000	0.11983	-0.241000	0.09681	0.561000	0.74099	GAG		0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		19	28	1	0	6.49762e-13	1	8.19883e-13	19	28				
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23915088C>T	ENST00000382292.3	-	9	3200	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382298.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	976					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(2926-2928)cGt>cAt		spastic ataxia of Charlevoix-Saguenay (sacsin)							71.0	70.0	70.0					13																	23915088		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915088C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2927G>A	13.37:g.23915088C>T	ENSP00000371729:p.Arg976His					SACS_ENST00000382292.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H	p.R976H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3515	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	976					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2927G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	34	5.356014	0.95854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.61533	0.89	D	0.89568	0.3811	10	0.39692	T	0.17	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	976	Q9NZJ4	SACS_HUMAN	H	976;226;976	ENSP00000371729:R976H;ENSP00000385844:R226H;ENSP00000371735:R976H	ENSP00000371729:R976H	R	-	2	0	SACS	22813088	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.783000	0.68982	2.878000	0.98634	0.650000	0.86243	CGT		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		37	40	0	0	0	1	0	37	40				
TNKS2	80351	broad.mit.edu	37	10	93590921	93590921	+	Missense_Mutation	SNP	G	G	T	rs549884707		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93590921G>T	ENST00000371627.4	+	11	1637	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	420					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGAAGTAGTGGTGAAACATGA	0.353																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1258-1260)Gtg>Ttg		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							208.0	199.0	202.0					10																	93590921		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93590921G>T	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1258G>T	10.37:g.93590921G>T	ENSP00000360689:p.Val420Leu						p.V420L	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			11	1637	+		Colorectal(252;0.162)	420					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.1258G>T	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	4.967	0.179658	0.09443	.	.	ENSG00000107854	ENST00000371627	T	0.56776	0.44	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.53938	D	0.000046	T	0.21631	0.0521	N	0.01202	-0.96	0.40571	D	0.981309	B	0.06786	0.001	B	0.11329	0.006	T	0.31052	-0.9957	10	0.02654	T	1	.	13.2527	0.60060	0.0724:0.0:0.9276:0.0	.	420	Q9H2K2	TNKS2_HUMAN	L	420	ENSP00000360689:V420L	ENSP00000360689:V420L	V	+	1	0	TNKS2	93580901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.467000	0.45093	2.718000	0.92993	0.655000	0.94253	GTG		0.353	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		5	154	1	0	0.0215528	1	0.0221649	5	154				
ZP1	22917	broad.mit.edu	37	11	60638464	60638464	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60638464C>T	ENST00000278853.5	+	5	861	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	287	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTACTTCGTCCTCGTAGTGT	0.582																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(859-861)gtC>gtT		zona pellucida glycoprotein 1 (sperm receptor)							246.0	213.0	224.0					11																	60638464		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60638464C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.861C>T	11.37:g.60638464C>T							p.V287V	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			5	861	+			287			ZP.			Silent	SNP	ENST00000278853.5	37	c.861C>T	CCDS31572.1																																																																																				0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		9	190	0	0	0	1	0	9	190				
CMPK1	51727	broad.mit.edu	37	1	47842396	47842396	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47842396G>T	ENST00000371873.5	+	6	815	c.666G>T	c.(664-666)caG>caT	p.Q222H	CMPK1_ENST00000450808.2_Missense_Mutation_p.Q173H	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						AAGTTGTGCAGATTTTTGACA	0.318																																						ENST00000371873.5																			0				endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						c.(664-666)caG>caT		cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	Gemcitabine(DB00441)						82.0	79.0	80.0					1																	47842396		2202	4300	6502	SO:0001583	missense	51727				nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	g.chr1:47842396G>T	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.666G>T	1.37:g.47842396G>T	ENSP00000360939:p.Gln222His					CMPK1_ENST00000450808.2_Missense_Mutation_p.Q173H	p.Q222H	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN			6	815	+			190						Missense_Mutation	SNP	ENST00000371873.5	37	c.666G>T	CCDS549.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680396	0.29872	.	.	ENSG00000162368	ENST00000371873;ENST00000450808	T;T	0.75367	-0.93;-0.11	5.9	3.86	0.44501	.	0.397406	0.31577	N	0.007403	T	0.67859	0.2938	L	0.49126	1.545	0.33033	D	0.53043	B;B	0.26672	0.128;0.156	B;B	0.39068	0.289;0.113	T	0.70749	-0.4787	10	0.52906	T	0.07	-11.3193	1.1611	0.01806	0.1811:0.1446:0.3882:0.2862	.	173;222	E9PGI8;B2R6S5	.;.	H	222;173	ENSP00000360939:Q222H;ENSP00000398192:Q173H	ENSP00000360939:Q222H	Q	+	3	2	CMPK1	47614983	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	0.149000	0.16243	1.416000	0.47057	0.563000	0.77884	CAG		0.318	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308		6	31	1	0	0.00198382	1	0.00210581	6	31				
VRTN	55237	broad.mit.edu	37	14	74824775	74824775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74824775G>T	ENST00000256362.4	+	2	1530	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	430					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGTTCCCTGGCATCTCACGG	0.577																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1288-1290)gGc>gTc		vertebrae development associated							90.0	86.0	87.0					14																	74824775		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824775G>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1289G>T	14.37:g.74824775G>T	ENSP00000256362:p.Gly430Val						p.G430V	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1530	+			430					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1289G>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371806	0.61624	.	.	ENSG00000133980	ENST00000256362	T	0.69685	-0.42	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.54856	0.762	T	0.73164	-0.4069	10	0.87932	D	0	-5.2063	15.7614	0.78082	0.0:0.0:1.0:0.0	.	430	Q9H8Y1	VRTN_HUMAN	V	430	ENSP00000256362:G430V	ENSP00000256362:G430V	G	+	2	0	VRTN	73894528	1.000000	0.71417	0.994000	0.49952	0.586000	0.36452	8.802000	0.91910	2.371000	0.80710	0.561000	0.74099	GGC		0.577	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		8	62	1	0	1.26484e-09	1	1.54084e-09	8	62				
ACTN4	81	broad.mit.edu	37	19	39214701	39214701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39214701C>A	ENST00000252699.2	+	14	1752	c.1676C>A	c.(1675-1677)aCc>aAc	p.T559N	ACTN4_ENST00000424234.2_Missense_Mutation_p.T169N|ACTN4_ENST00000390009.3_Missense_Mutation_p.T340N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	559					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCGTCCATACCATCGAGGAG	0.642																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(1675-1677)aCc>aAc		actinin, alpha 4							63.0	65.0	64.0					19																	39214701		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39214701C>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1676C>A	19.37:g.39214701C>A	ENSP00000252699:p.Thr559Asn					ACTN4_ENST00000424234.2_Missense_Mutation_p.T169N|ACTN4_ENST00000390009.3_Missense_Mutation_p.T340N	p.T559N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		14	1752	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		559					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1676C>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627327	0.46944	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009	T;T;T	0.69435	-0.4;-0.4;-0.4	3.75	3.75	0.43078	.	0.065381	0.64402	D	0.000013	T	0.55955	0.1953	L	0.35414	1.06	0.52099	D	0.999942	B	0.02656	0.0	B	0.14023	0.01	T	0.55982	-0.8054	10	0.42905	T	0.14	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	559	O43707	ACTN4_HUMAN	N	559;169;340	ENSP00000252699:T559N;ENSP00000411187:T169N;ENSP00000439497:T340N	ENSP00000252699:T559N	T	+	2	0	ACTN4	43906541	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.837000	0.55820	2.106000	0.64143	0.561000	0.74099	ACC		0.642	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			22	37	1	0	6.36457e-07	1	7.41396e-07	22	37				
ABCC8	6833	broad.mit.edu	37	11	17414591	17414591	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17414591G>T	ENST00000389817.3	-	39	4761	c.4693C>A	c.(4693-4695)Ctg>Atg	p.L1565M	ABCC8_ENST00000302539.4_Missense_Mutation_p.L1566M			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1565	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CGGCTGAGCAGCTTCTCTGGC	0.607																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4696-4698)Ctg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						116.0	92.0	100.0					11																	17414591		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17414591G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4693C>A	11.37:g.17414591G>T	ENSP00000374467:p.Leu1565Met					ABCC8_ENST00000389817.3_Missense_Mutation_p.L1565M	p.L1566M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	39	4821	-			1565			ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.4696C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858487	0.71834	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.91180	-2.8;-2.8	5.2	3.33	0.38152	ABC transporter-like (1);	0.000000	0.64402	D	0.000004	D	0.96340	0.8806	H	0.96208	3.785	0.51012	D	0.999902	D	0.76494	0.999	D	0.77004	0.989	D	0.95808	0.8839	10	0.87932	D	0	.	10.82	0.46599	0.1848:0.0:0.8152:0.0	.	1565	Q09428	ABCC8_HUMAN	M	1565;1566	ENSP00000374467:L1565M;ENSP00000303960:L1566M	ENSP00000303960:L1566M	L	-	1	2	ABCC8	17371167	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	3.478000	0.53158	0.590000	0.29694	0.561000	0.74099	CTG		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		10	62	1	0	5.16669e-11	1	6.41398e-11	10	62				
ATP9A	10079	broad.mit.edu	37	20	50292706	50292706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50292706G>A	ENST00000338821.5	-	10	1105	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ATP9A_ENST00000402822.1_Missense_Mutation_p.R160W|ATP9A_ENST00000311637.5_Missense_Mutation_p.R145W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGACACTCCGGAGTTCTCTG	0.443																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(841-843)Cgg>Tgg		ATPase, class II, type 9A							95.0	84.0	88.0					20																	50292706		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50292706G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.841C>T	20.37:g.50292706G>A	ENSP00000342481:p.Arg281Trp					ATP9A_ENST00000402822.1_Missense_Mutation_p.R160W|ATP9A_ENST00000311637.5_Missense_Mutation_p.R145W	p.R281W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			10	1105	-			281					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.841C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360110	0.82353	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;D;T	0.90732	-1.27;-2.72;-1.27	5.61	3.56	0.40772	ATPase, P-type, ATPase-associated domain (1);	0.108661	0.64402	D	0.000005	D	0.96144	0.8743	M	0.92219	3.285	0.80722	D	1	P;D	0.89917	0.88;1.0	B;D	0.97110	0.083;1.0	D	0.97137	0.9822	10	0.87932	D	0	-37.8556	14.7009	0.69154	0.0:0.0:0.7233:0.2766	.	160;281	O75110-2;O75110	.;ATP9A_HUMAN	W	145;281;160	ENSP00000309086:R145W;ENSP00000342481:R281W;ENSP00000385875:R160W	ENSP00000309086:R145W	R	-	1	2	ATP9A	49726113	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.295000	0.65692	1.318000	0.45170	0.655000	0.94253	CGG		0.443	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		5	38	0	0	0	1	0	5	38				
DCAF12L1	139170	broad.mit.edu	37	X	125685778	125685778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685778C>T	ENST00000371126.1	-	1	1056	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	272										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGGTTCTTGCCGCCGCAGGCC	0.637																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(814-816)Ggc>Agc		DDB1 and CUL4 associated factor 12-like 1							42.0	43.0	43.0					X																	125685778		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685778C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.814G>A	X.37:g.125685778C>T	ENSP00000360167:p.Gly272Ser						p.G272S	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1056	-			272					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.814G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.316110	0.01331	.	.	ENSG00000198889	ENST00000371126	T	0.62232	0.04	3.81	-4.25	0.03766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.671673	0.12369	N	0.474933	T	0.40272	0.1110	L	0.38175	1.15	0.09310	N	1	B	0.21688	0.059	B	0.10450	0.005	T	0.16660	-1.0395	10	0.41790	T	0.15	.	1.2594	0.01998	0.138:0.1884:0.27:0.4036	.	272	Q5VU92	DC121_HUMAN	S	272	ENSP00000360167:G272S	ENSP00000360167:G272S	G	-	1	0	DCAF12L1	125513459	0.291000	0.24352	0.000000	0.03702	0.061000	0.15899	-0.132000	0.10467	-1.334000	0.02244	0.429000	0.28392	GGC		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		19	31	0	0	0	1	0	19	31				
MLLT6	4302	broad.mit.edu	37	17	36876694	36876694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36876694G>A	ENST00000325718.7	+	15	2316	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	742	Leucine-zipper.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGATCCTGAGCCTGACGGCC	0.647			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2224-2226)aGc>aAc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							36.0	29.0	32.0					17																	36876694		2200	4289	6489	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36876694G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2225G>A	17.37:g.36876694G>A	ENSP00000316426:p.Ser742Asn						p.S742N	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			15	2316	+	Breast(7;4.43e-21)		742			Leucine-zipper.		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.2225G>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854348	0.17106	.	.	ENSG00000108292	ENST00000325718	T	0.10288	2.89	4.81	3.76	0.43208	.	0.296975	0.37906	N	0.001885	T	0.04815	0.0130	N	0.11313	0.125	0.37601	D	0.920557	P;B	0.36535	0.557;0.148	B;B	0.35971	0.215;0.05	T	0.24905	-1.0147	10	0.02654	T	1	.	11.8334	0.52309	0.0:0.3401:0.6599:0.0	.	196;742	Q96I32;P55198	.;AF17_HUMAN	N	742	ENSP00000316426:S742N	ENSP00000316426:S742N	S	+	2	0	MLLT6	34130220	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.200000	0.51051	2.364000	0.80123	0.561000	0.74099	AGC		0.647	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		12	16	0	0	0	1	0	12	16				
NID1	4811	broad.mit.edu	37	1	236175274	236175274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236175274G>A	ENST00000264187.6	-	12	2556	c.2474C>T	c.(2473-2475)aCg>aTg	p.T825M	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	825	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCACTGGCACGTGAAAGAGCC	0.567																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2473-2475)aCg>aTg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						152.0	122.0	132.0					1																	236175274		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236175274G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2474C>T	1.37:g.236175274G>A	ENSP00000264187:p.Thr825Met					NID1_ENST00000366595.3_Intron	p.T825M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		12	2556	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	825			EGF-like 5; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2474C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654114	0.29425	.	.	ENSG00000116962	ENST00000264187	D	0.90955	-2.76	5.77	-1.27	0.09347	Thyroglobulin type-1 (1);EGF domain, merozoite surface protein 1-like (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.805653	0.12000	N	0.508922	D	0.88224	0.6379	M	0.84082	2.675	0.09310	N	1	P	0.39003	0.654	B	0.36378	0.223	T	0.78856	-0.2039	10	0.46703	T	0.11	.	6.6653	0.23037	0.3776:0.1112:0.5111:0.0	.	825	P14543	NID1_HUMAN	M	825	ENSP00000264187:T825M	ENSP00000264187:T825M	T	-	2	0	NID1	234241897	0.000000	0.05858	0.021000	0.16686	0.916000	0.54674	-0.601000	0.05687	-0.242000	0.09667	0.650000	0.86243	ACG		0.567	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		21	23	0	0	0	1	0	21	23				
HAT1	8520	broad.mit.edu	37	2	172848174	172848174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172848174G>T	ENST00000264108.4	+	11	1204	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Nonsense_Mutation_p.E305*	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	390					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAACCAAATAGAAATAAGCAT	0.368																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(1168-1170)Gaa>Taa		histone acetyltransferase 1							109.0	108.0	108.0					2																	172848174		2203	4300	6503	SO:0001587	stop_gained	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172848174G>T	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1168G>T	2.37:g.172848174G>T	ENSP00000264108:p.Glu390*					SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Nonsense_Mutation_p.E305*	p.E390*	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		11	1204	+			390					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Nonsense_Mutation	SNP	ENST00000264108.4	37	c.1168G>T	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584801	0.96578	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.94	5.94	0.96194	.	0.041245	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.9374	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	305;390	.	ENSP00000264108:E390X	E	+	1	0	HAT1	172556420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.188000	0.94921	2.807000	0.96579	0.591000	0.81541	GAA		0.368	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		32	37	1	0	2.16457e-27	1	2.88848e-27	32	37				
LRRC55	219527	broad.mit.edu	37	11	56950053	56950053	+	Missense_Mutation	SNP	C	C	T	rs34696547|rs371199626		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56950053C>T	ENST00000497933.1	+	1	833	c.686C>T	c.(685-687)cCg>cTg	p.P229L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	199	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGGCCTACCGGGGCTGGTG	0.637																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(685-687)cCg>cTg		leucine rich repeat containing 55							75.0	74.0	74.0					11																	56950053		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950053C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.686C>T	11.37:g.56950053C>T	ENSP00000419542:p.Pro229Leu						p.P229L	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	833	+			199			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.686C>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151303	0.57151	.	.	ENSG00000183908	ENST00000497933	T	0.02787	4.16	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000013	T	0.07234	0.0183	M	0.67625	2.065	0.80722	D	1	P	0.43094	0.799	B	0.42188	0.379	T	0.09335	-1.0679	10	0.46703	T	0.11	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	199	Q6ZSA7	LRC55_HUMAN	L	229	ENSP00000419542:P229L	ENSP00000419542:P229L	P	+	2	0	LRRC55	56706629	1.000000	0.71417	0.951000	0.38953	0.720000	0.41350	7.150000	0.77403	2.724000	0.93272	0.561000	0.74099	CCG		0.637	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		52	59	0	0	0	1	0	52	59				
TRRAP	8295	broad.mit.edu	37	7	98506447	98506447	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98506447G>A	ENST00000359863.4	+	14	1421	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	TRRAP_ENST00000446306.3_Silent_p.K404K|TRRAP_ENST00000355540.3_Silent_p.K404K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	404					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTCGCCAAGAACATCGACG	0.642																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(1210-1212)aaG>aaA		transformation/transcription domain-associated protein							86.0	59.0	68.0					7																	98506447		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98506447G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1212G>A	7.37:g.98506447G>A						TRRAP_ENST00000355540.3_Silent_p.K404K|TRRAP_ENST00000446306.3_Silent_p.K404K	p.K404K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1421	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		404					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.1212G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286716	0.23478	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	T	0.65523	0.2699	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62627	-0.6814	4	.	.	.	.	13.3609	0.60654	0.0716:0.0:0.9284:0.0	.	.	.	.	K	119	.	.	R	+	2	0	TRRAP	98344383	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.960000	0.56752	2.760000	0.94817	0.655000	0.94253	AGA		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		3	14	0	0	0	1	0	3	14				
ZC3H14	79882	broad.mit.edu	37	14	89034493	89034493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89034493G>A	ENST00000251038.5	+	3	415	c.190G>A	c.(190-192)Gta>Ata	p.V64I	ZC3H14_ENST00000302216.8_Missense_Mutation_p.V64I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V64I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V30I|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V30I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	64						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCGATTCACCGTATGGTATGT	0.423																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(190-192)Gta>Ata		zinc finger CCCH-type containing 14							124.0	95.0	105.0					14																	89034493		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89034493G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.190G>A	14.37:g.89034493G>A	ENSP00000251038:p.Val64Ile					ZC3H14_ENST00000302216.8_Missense_Mutation_p.V64I|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V30I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V64I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V30I	p.V64I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			3	415	+			64					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.190G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572908	0.45798	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120	T;T;T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.62	5.62	0.85841	.	0.269175	0.36101	N	0.002794	T	0.55784	0.1942	L	0.34521	1.04	0.34223	D	0.675663	P;P;P;P	0.40332	0.625;0.68;0.713;0.68	B;B;B;B	0.31390	0.088;0.119;0.077;0.129	T	0.69213	-0.5204	10	0.40728	T	0.16	-15.0339	12.9395	0.58335	0.0739:0.0:0.9261:0.0	.	64;64;64;64	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;ZC3HE_HUMAN	I	64;64;64;30;64;30;64;64;51;30;64;64;30;30;30	ENSP00000251038:V64I;ENSP00000352250:V30I;ENSP00000307025:V64I;ENSP00000451638:V30I;ENSP00000450474:V64I;ENSP00000451389:V51I;ENSP00000451489:V30I;ENSP00000452475:V64I;ENSP00000377150:V64I;ENSP00000338002:V30I;ENSP00000452210:V30I;ENSP00000450451:V30I	ENSP00000251038:V64I	V	+	1	0	ZC3H14	88104246	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.149000	0.58091	2.639000	0.89480	0.655000	0.94253	GTA		0.423	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		15	16	0	0	0	1	0	15	16				
SAP30BP	29115	broad.mit.edu	37	17	73702562	73702562	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73702562C>T	ENST00000584667.1	+	11	1145	c.888C>T	c.(886-888)atC>atT	p.I296I	SAP30BP_ENST00000355423.3_Silent_p.I280I	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCGTCATCTCTGCTGTGG	0.622																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(886-888)atC>atT		SAP30 binding protein							139.0	119.0	126.0					17																	73702562		2203	4300	6503	SO:0001819	synonymous_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73702562C>T	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.888C>T	17.37:g.73702562C>T						SAP30BP_ENST00000355423.3_Silent_p.I280I	p.I296I	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1145	+	all_cancers(13;6.42e-08)		296						Silent	SNP	ENST00000584667.1	37	c.888C>T	CCDS11726.1																																																																																				0.622	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		50	73	0	0	0	1	0	50	73				
HS6ST2	90161	broad.mit.edu	37	X	132092388	132092388	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092388G>A	ENST00000370836.2	-	2	658	c.243C>T	c.(241-243)gcC>gcT	p.A81A	HS6ST2_ENST00000370833.2_5'Flank|HS6ST2_ENST00000521489.1_Silent_p.A81A	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	81					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGGCGCACGCGGCTCCCGCCA	0.726																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(241-243)gcC>gcT		heparan sulfate 6-O-sulfotransferase 2							8.0	11.0	10.0					X																	132092388		1765	3906	5671	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:132092388G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.243C>T	X.37:g.132092388G>A						HS6ST2_ENST00000521489.1_Silent_p.A81A	p.A81A	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			2	658	-	Acute lymphoblastic leukemia(192;0.000127)		81					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.243C>T	CCDS48169.1																																																																																				0.726	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		4	12	0	0	0	1	0	4	12				
ZBED4	9889	broad.mit.edu	37	22	50279298	50279298	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279298C>G	ENST00000216268.5	+	2	2465	c.1988C>G	c.(1987-1989)gCt>gGt	p.A663G		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	663						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCTCATAGCTGAAATGATT	0.458																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1987-1989)gCt>gGt		zinc finger, BED-type containing 4							78.0	82.0	80.0					22																	50279298		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279298C>G	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1988C>G	22.37:g.50279298C>G	ENSP00000216268:p.Ala663Gly						p.A663G	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2465	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	663					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1988C>G	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257605	0.80246	.	.	ENSG00000100426	ENST00000216268	T	0.56275	0.47	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.72714	-0.4210	10	0.52906	T	0.07	-19.1583	19.0818	0.93186	0.0:1.0:0.0:0.0	.	663	O75132	ZBED4_HUMAN	G	663	ENSP00000216268:A663G	ENSP00000216268:A663G	A	+	2	0	ZBED4	48665302	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	7.361000	0.79497	2.492000	0.84095	0.655000	0.94253	GCT		0.458	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		9	81	0	0	0	1	0	9	81				
ALLC	55821	broad.mit.edu	37	2	3743461	3743461	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3743461A>G	ENST00000252505.3	+	8	828	c.666A>G	c.(664-666)atA>atG	p.I222M	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	241					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACAATATAATAGGTAAGATGA	0.433										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.e8+1		allantoicase							55.0	56.0	56.0					2																	3743461		1850	4089	5939	SO:0001630	splice_region_variant	55821						allantoicase activity	g.chr2:3743461A>G	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.667+1A>G	2.37:g.3743461A>G		HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.I222_splice	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	8	828	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	241					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Splice_Site	SNP	ENST00000252505.3	37	c.667_splice	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489027	0.44249	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	2.97	0.34412	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	M	0.92026	3.265	0.45005	D	0.998025	D	0.65815	0.995	D	0.66196	0.942	T	0.81163	-0.1058	9	0.62326	D	0.03	-18.7721	10.9208	0.47163	0.7005:0.2995:0.0:0.0	.	241	Q8N6M5	ALLC_HUMAN	M	222	.	ENSP00000252505:I222M	I	+	3	3	ALLC	3721336	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.703000	0.47110	0.340000	0.23745	-0.488000	0.04728	ATA		0.433	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		Missense_Mutation	5	28	0	0	0	1	0	5	28				
DOCK9	23348	broad.mit.edu	37	13	99481710	99481710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99481710C>T	ENST00000376460.1	-	43	4827	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1584					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(4747-4749)Gcc>Acc		dedicator of cytokinesis 9							85.0	83.0	83.0					13																	99481710		2098	4230	6328	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99481710C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4747G>A	13.37:g.99481710C>T	ENSP00000365643:p.Ala1583Thr					DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T	p.A1583T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			43	4827	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1584			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4747G>A	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.373236|5.373236	0.95923|0.95923	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449|ENST00000400228	T;T;T|.	0.69175|.	2.3;2.39;-0.38|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052677|.	0.85682|.	D|.	0.000000|.	D|D	0.84624|0.84624	0.5513|0.5513	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D|.	0.63880|.	0.991;0.962;0.967;0.984;0.993;0.782;0.967;0.98|.	P;P;P;P;P;B;P;P|.	0.59761|.	0.691;0.734;0.631;0.651;0.863;0.261;0.631;0.796|.	D|D	0.85147|0.85147	0.0984|0.0984	10|5	0.87932|.	D|.	0|.	.|.	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1584;303;227;1583;227;1584;276;226|.	A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4|.	.;.;.;.;.;DOCK9_HUMAN;.;.|.	T|H	1583;1584;1576;1584;1583;514;1584;226;227|170	ENSP00000365643:A1583T;ENSP00000341086:A1584T;ENSP00000344702:A227T|.	ENSP00000341086:A1584T|.	A|R	-|-	1|2	0|0	DOCK9|DOCK9	98279711|98279711	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.996000|0.996000	0.88848|0.88848	5.667000|5.667000	0.68067|0.68067	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		5	12	0	0	0	1	0	5	12				
AFF1	4299	broad.mit.edu	37	4	87968380	87968380	+	Silent	SNP	G	G	A	rs376495098		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87968380G>A	ENST00000307808.6	+	3	1092	c.672G>A	c.(670-672)acG>acA	p.T224T	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.T231T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	224					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCCCCGGACGCAAGGAAGCA	0.498																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(670-672)acG>acA		AF4/FMR2 family, member 1		G	,	1,4405	2.1+/-5.4	0,1,2202	126.0	127.0	127.0		693,672	-4.0	0.0	4		127	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF1	NM_001166693.1,NM_005935.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	231/1219,224/1211	87968380	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968380G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.672G>A	4.37:g.87968380G>A						AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.T231T	p.T224T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	1092	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	224					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.672G>A	CCDS3616.1																																																																																				0.498	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		6	110	0	0	0	1	0	6	110				
NUDT22	84304	broad.mit.edu	37	11	63994254	63994254	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63994254A>G	ENST00000279206.3	+	2	286	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000394546.2_5'Flank|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000317459.6_5'Flank|TRPT1_ENST00000541278.1_5'Flank|TRPT1_ENST00000546089.1_5'Flank|TRPT1_ENST00000394547.3_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Missense_Mutation_p.I44V	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	44							hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CATCACTGCCATCTGGGAGAC	0.697																																						ENST00000279206.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(130-132)Atc>Gtc		nudix (nucleoside diphosphate linked moiety X)-type motif 22							52.0	52.0	52.0					11																	63994254		2201	4297	6498	SO:0001583	missense	84304						hydrolase activity	g.chr11:63994254A>G	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.130A>G	11.37:g.63994254A>G	ENSP00000279206:p.Ile44Val					NUDT22_ENST00000441250.2_Missense_Mutation_p.I44V	p.I44V	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN			2	286	+			44					C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	c.130A>G	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	A	5.875	0.345560	0.11126	.	.	ENSG00000149761	ENST00000539325;ENST00000279206;ENST00000441250;ENST00000428347;ENST00000536237	T;T;T;T	0.44881	0.91;2.24;2.23;1.48	4.41	-0.949	0.10376	.	0.870455	0.10455	N	0.672609	T	0.28732	0.0712	L	0.40543	1.245	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.13407	0.007;0.003;0.009	T	0.33727	-0.9857	10	0.10111	T	0.7	-6.871	9.4804	0.38898	0.5101:0.0:0.4899:0.0	.	44;44;44	Q9BRQ3-2;C9JY06;Q9BRQ3	.;.;NUD22_HUMAN	V	44	ENSP00000444022:I44V;ENSP00000279206:I44V;ENSP00000407970:I44V;ENSP00000401085:I44V	ENSP00000279206:I44V	I	+	1	0	NUDT22	63750830	0.000000	0.05858	0.226000	0.23910	0.980000	0.70556	-0.009000	0.12765	-0.256000	0.09473	0.402000	0.26972	ATC		0.697	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		14	53	0	0	0	1	0	14	53				
XRCC5	7520	broad.mit.edu	37	2	217069920	217069920	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217069920A>G	ENST00000392133.3	+	23	2655	c.2194A>G	c.(2194-2196)Ata>Gta	p.I732V	XRCC5_ENST00000392132.2_Missense_Mutation_p.I732V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	732					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGGACATGATATAGGTCGT	0.453								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2194-2196)Ata>Gta	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							320.0	278.0	292.0					2																	217069920		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217069920A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.2194A>G	2.37:g.217069920A>G	ENSP00000375978:p.Ile732Val					XRCC5_ENST00000392132.2_Missense_Mutation_p.I732V	p.I732V			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	23	2655	+		Renal(323;0.0328)	732					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.2194A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496903	0.44352	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.33654	1.4;1.4	5.3	5.3	0.74995	.	0.391440	0.31531	N	0.007485	T	0.39627	0.1085	M	0.71581	2.175	0.30639	N	0.756628	B	0.21821	0.061	B	0.21917	0.037	T	0.46162	-0.9211	10	0.52906	T	0.07	.	12.7252	0.57166	1.0:0.0:0.0:0.0	.	732	P13010	XRCC5_HUMAN	V	732	ENSP00000375978:I732V;ENSP00000375977:I732V	ENSP00000375977:I732V	I	+	1	0	XRCC5	216778165	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	4.668000	0.61568	2.225000	0.72522	0.533000	0.62120	ATA		0.453	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		50	80	0	0	0	1	0	50	80				
HEPHL1	341208	broad.mit.edu	37	11	93800872	93800872	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93800872C>A	ENST00000315765.9	+	5	1027	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	340	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCGAGAATCCTGGGAAGTGG	0.453																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1018-1020)cCt>cAt		hephaestin-like 1							98.0	97.0	97.0					11																	93800872		1948	4137	6085	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800872C>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1019C>A	11.37:g.93800872C>A	ENSP00000313699:p.Pro340His						p.P340H	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			5	1027	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	340			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1019C>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412100	0.62511	.	.	ENSG00000181333	ENST00000315765	D	0.99800	-6.8	5.63	5.63	0.86233	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.552753	0.20001	N	0.101324	D	0.99697	0.9885	M	0.88979	2.995	0.29242	N	0.872547	D	0.67145	0.996	P	0.62014	0.897	D	0.99305	1.0902	10	0.87932	D	0	.	10.4746	0.44657	0.0:0.8561:0.0:0.1439	.	340	Q6MZM0	HPHL1_HUMAN	H	340	ENSP00000313699:P340H	ENSP00000313699:P340H	P	+	2	0	HEPHL1	93440520	0.001000	0.12720	1.000000	0.80357	0.840000	0.47671	0.502000	0.22594	2.826000	0.97356	0.655000	0.94253	CCT		0.453	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		8	89	1	0	1.26484e-09	1	1.54084e-09	8	89				
CDC42BPB	9578	broad.mit.edu	37	14	103410310	103410310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410310G>A	ENST00000361246.2	-	30	4614	c.4326C>T	c.(4324-4326)agC>agT	p.S1442S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCCCATGTGGCTGAAGCAAA	0.562																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4324-4326)agC>agT		CDC42 binding protein kinase beta (DMPK-like)							91.0	74.0	80.0					14																	103410310		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103410310G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4326C>T	14.37:g.103410310G>A							p.S1442S	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4614	-		Melanoma(154;0.155)	1442			CNH.			Silent	SNP	ENST00000361246.2	37	c.4326C>T	CCDS9978.1																																																																																				0.562	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		15	23	0	0	0	1	0	15	23				
FAM188A	80013	broad.mit.edu	37	10	15902255	15902255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15902255G>A	ENST00000277632.3	-	1	264	c.44C>T	c.(43-45)aCc>aTc	p.T15I	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	15					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GCTGCTCTTGGTGCCCCACAC	0.622																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(43-45)aCc>aTc		family with sequence similarity 188, member A							39.0	38.0	39.0					10																	15902255		2203	4300	6503	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15902255G>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.44C>T	10.37:g.15902255G>A	ENSP00000277632:p.Thr15Ile					FAM188A_ENST00000477891.1_5'UTR	p.T15I	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			1	264	-			15					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.44C>T	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697419	0.48202	.	.	ENSG00000148481	ENST00000277632	T	0.31510	1.49	5.34	4.44	0.53790	.	0.387780	0.31031	N	0.008385	T	0.22205	0.0535	L	0.29908	0.895	0.80722	D	1	B	0.20368	0.044	B	0.17979	0.02	T	0.03898	-1.0994	10	0.40728	T	0.16	0.1861	10.1813	0.42970	0.0925:0.0:0.9075:0.0	.	15	Q9H8M7	F188A_HUMAN	I	15	ENSP00000277632:T15I	ENSP00000277632:T15I	T	-	2	0	FAM188A	15942261	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.442000	0.59988	1.239000	0.43787	0.655000	0.94253	ACC		0.622	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		5	11	0	0	0	1	0	5	11				
NEB	4703	broad.mit.edu	37	2	152423688	152423688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152423688C>A	ENST00000172853.10	-	86	13194	c.13047G>T	c.(13045-13047)caG>caT	p.Q4349H	NEB_ENST00000427231.2_Missense_Mutation_p.Q6050H|NEB_ENST00000409198.1_Missense_Mutation_p.Q4349H|NEB_ENST00000604864.1_Missense_Mutation_p.Q6050H|NEB_ENST00000397345.3_Missense_Mutation_p.Q6050H|NEB_ENST00000603639.1_Missense_Mutation_p.Q6050H			P20929	NEBU_HUMAN	nebulin	4349					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q4349Q(1)|p.Q6050Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTAGGTCAT	0.398																																						ENST00000427231.2																			2	Substitution - coding silent(2)	p.Q4349Q(1)|p.Q6050Q(1)	lung(2)	NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18148-18150)caG>caT		nebulin							138.0	130.0	132.0					2																	152423688		1958	4144	6102	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152423688C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13047G>T	2.37:g.152423688C>A	ENSP00000172853:p.Gln4349His					NEB_ENST00000409198.1_Missense_Mutation_p.Q4349H|NEB_ENST00000397345.3_Missense_Mutation_p.Q6050H|NEB_ENST00000603639.1_Missense_Mutation_p.Q6050H|NEB_ENST00000604864.1_Missense_Mutation_p.Q6050H|NEB_ENST00000172853.10_Missense_Mutation_p.Q4349H	p.Q6050H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	114	18352	-			6044					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18150G>T		.	.	.	.	.	.	.	.	.	.	C	17.89	3.500715	0.64298	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	6.13	4.33	0.51752	.	0.188097	0.51477	D	0.000096	T	0.75708	0.3886	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.87578	0.992;0.998	T	0.80961	-0.1148	10	0.87932	D	0	.	12.0408	0.53452	0.0:0.7775:0.0:0.2225	.	4349;780	P20929;Q14215	NEBU_HUMAN;.	H	4349;6050;6050;398;780;4349	ENSP00000386259:Q4349H;ENSP00000380505:Q6050H;ENSP00000416578:Q6050H;ENSP00000410961:Q780H;ENSP00000172853:Q4349H	ENSP00000172853:Q4349H	Q	-	3	2	NEB	152131934	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.321000	0.19558	1.627000	0.50400	0.650000	0.86243	CAG		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		10	98	1	0	6.40141e-05	1	7.11719e-05	10	98				
PCCA	5095	broad.mit.edu	37	13	101182405	101182405	+	Silent	SNP	C	C	T	rs150352833	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101182405C>T	ENST00000376285.1	+	24	2210	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	PCCA_ENST00000376286.4_Silent_p.L698L|PCCA_ENST00000376279.3_Silent_p.L677L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	724	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGGATCTGCTCGTGGAGCTGG	0.408																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(2170-2172)ctC>ctT		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)	C	,,	2,4404	4.2+/-10.8	0,2,2201	108.0	97.0	100.0		2172,2094,2031	-5.4	0.9	13	dbSNP_134	100	18,8582	14.0+/-48.4	0,18,4282	no	coding-synonymous,coding-synonymous,coding-synonymous	PCCA	NM_000282.3,NM_001127692.2,NM_001178004.1	,,	0,20,6483	TT,TC,CC		0.2093,0.0454,0.1538	,,	724/729,698/703,677/682	101182405	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:101182405C>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.2172C>T	13.37:g.101182405C>T						PCCA_ENST00000376286.4_Silent_p.L698L|PCCA_ENST00000376279.3_Silent_p.L677L	p.L724L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			24	2210	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		724			Biotinyl-binding.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.2172C>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858687	0.17178	4.54E-4	0.002093	ENSG00000175198	ENST00000458283	.	.	.	5.51	-5.37	0.02681	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50915	-0.8771	4	.	.	.	.	8.2041	0.31443	0.0803:0.1111:0.5868:0.2218	.	.	.	.	C	130	.	.	R	+	1	0	PCCA	99980406	0.017000	0.18338	0.924000	0.36721	0.963000	0.63663	-1.787000	0.01764	-0.965000	0.03591	-0.136000	0.14681	CGT		0.408	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			9	30	0	0	0	1	0	9	30				
THRAP3	9967	broad.mit.edu	37	1	36769414	36769414	+	Silent	SNP	C	C	T	rs374496847		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36769414C>T	ENST00000354618.5	+	12	2888	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	SH3D21_ENST00000426732.2_5'Flank|SH3D21_ENST00000453908.2_5'Flank|THRAP3_ENST00000469141.2_Silent_p.G888G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	888	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCGTGAAGGCGAAGGCAGTG	0.587			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2662-2664)ggC>ggT		thyroid hormone receptor associated protein 3		T		1,4405	816.5+/-416.3	0,1,2202	57.0	66.0	63.0		2664	-9.3	0.0	1		63	0,8600		0,0,4300	no	coding-synonymous	THRAP3	NM_005119.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		888/956	36769414	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36769414C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2664C>T	1.37:g.36769414C>T						THRAP3_ENST00000469141.2_Silent_p.G888G	p.G888G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			12	2888	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	888					D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.2664C>T	CCDS405.1																																																																																				0.587	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		35	50	0	0	0	1	0	35	50				
DSCAM	1826	broad.mit.edu	37	21	41719792	41719792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41719792C>A	ENST00000400454.1	-	6	1492	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	339	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCAGTTCCTGTCACGCTG	0.488																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1015-1017)Gga>Tga		Down syndrome cell adhesion molecule							148.0	134.0	138.0					21																	41719792		1949	4156	6105	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719792C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1015G>T	21.37:g.41719792C>A	ENSP00000383303:p.Gly339*						p.G339*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			6	1492	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	339			Ig-like C2-type 4.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.1015G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	38	7.114100	0.98074	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5699	0.95407	0.0:1.0:0.0:0.0	.	.	.	.	X	339;91	.	ENSP00000383303:G339X	G	-	1	0	DSCAM	40641662	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.718000	0.84743	2.613000	0.88420	0.655000	0.94253	GGA		0.488	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		7	140	1	0	8.12818e-05	1	8.99451e-05	7	140				
CD63	967	broad.mit.edu	37	12	56121015	56121015	+	Missense_Mutation	SNP	C	C	T	rs375222428		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56121015C>T	ENST00000549117.1	-	3	611	c.175G>A	c.(175-177)Gca>Aca	p.A59T	CD63_ENST00000550776.1_5'UTR|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000548160.1_5'Flank|CD63_ENST00000257857.4_Missense_Mutation_p.A59T|CD63_ENST00000552754.1_Missense_Mutation_p.A36T|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000552692.1_Missense_Mutation_p.A59T|CD63_ENST00000420846.3_Missense_Mutation_p.A59T|RP11-644F5.11_ENST00000552576.1_RNA	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	59					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACACCCACTGCGATGATGACC	0.587																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(175-177)Gca>Aca		CD63 molecule							103.0	104.0	104.0					12																	56121015		2203	4300	6503	SO:0001583	missense	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56121015C>T	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.175G>A	12.37:g.56121015C>T	ENSP00000447730:p.Ala59Thr					CD63_ENST00000257857.4_Missense_Mutation_p.A59T|CD63_ENST00000552692.1_Missense_Mutation_p.A59T|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.A59T|CD63_ENST00000552754.1_Missense_Mutation_p.A36T|CD63_ENST00000546939.1_5'UTR	p.A59T	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			3	611	-			59					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.175G>A	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569525	0.86439	.	.	ENSG00000135404	ENST00000420846;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000552164;ENST00000551173;ENST00000546457	T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.35	3.54	0.40534	.	0.474111	0.22757	N	0.056015	D	0.83427	0.5252	L	0.49126	1.545	0.80722	D	1	D;P;P	0.69078	0.997;0.954;0.954	D;P;P	0.62955	0.909;0.782;0.701	T	0.80417	-0.1391	10	0.33940	T	0.23	.	10.61	0.45417	0.0:0.8391:0.0:0.1609	.	36;59;59	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	T	59;59;59;59;36;59;59;59	ENSP00000393502:A59T;ENSP00000449337:A59T;ENSP00000447730:A59T;ENSP00000257857:A59T;ENSP00000446807:A36T;ENSP00000449281:A59T;ENSP00000446752:A59T;ENSP00000450191:A59T	ENSP00000257857:A59T	A	-	1	0	CD63	54407282	0.333000	0.24731	0.673000	0.29887	0.813000	0.45954	3.635000	0.54309	0.921000	0.36994	-0.140000	0.14226	GCA		0.587	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			34	82	0	0	0	1	0	34	82				
TRMT13	54482	broad.mit.edu	37	1	100609688	100609688	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100609688G>T	ENST00000370141.2	+	9	812	c.806G>T	c.(805-807)gGt>gTt	p.G269V	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	269					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CATCTGTGTGGTATGGCAACA	0.378																																						ENST00000370141.2																			0											c.(805-807)gGt>gTt		tRNA methyltransferase 13 homolog (S. cerevisiae)							98.0	95.0	96.0					1																	100609688		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100609688G>T	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.806G>T	1.37:g.100609688G>T	ENSP00000359160:p.Gly269Val					TRMT13_ENST00000493651.1_3'UTR	p.G269V	NM_019083.2	NP_061956.2					9	812	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.806G>T	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492620	0.44352	.	.	ENSG00000122435	ENST00000370141	D	0.81499	-1.5	5.77	3.86	0.44501	Methyltransferase TRM13 (1);	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91899	0.5530	10	0.87932	D	0	-17.0047	11.99	0.53169	0.0663:0.1208:0.8129:0.0	.	255;269	B4DQS9;Q9NUP7	.;TRM13_HUMAN	V	269	ENSP00000359160:G269V	ENSP00000359160:G269V	G	+	2	0	CCDC76	100382276	1.000000	0.71417	0.902000	0.35471	0.070000	0.16714	6.984000	0.76186	1.421000	0.47157	-0.176000	0.13171	GGT		0.378	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		19	49	1	0	4.96729e-08	1	5.9048e-08	19	49				
STON1	11037	broad.mit.edu	37	2	48809188	48809188	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48809188G>T	ENST00000406226.1	+	3	1611	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	STON1_ENST00000309835.3_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E472D|STON1_ENST00000404752.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E472D	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	472	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTATTATGAGAAGGACTCAG	0.358																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1414-1416)gaG>gaT		stonin 1							114.0	119.0	117.0					2																	48809188		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48809188G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1416G>T	2.37:g.48809188G>T	ENSP00000384615:p.Glu472Asp					STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E472D|STON1_ENST00000404752.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E472D|STON1_ENST00000406226.1_Missense_Mutation_p.E472D	p.E472D					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1426	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1416G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	4.573	0.106417	0.08780	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.3	-2.6	0.06190	Clathrin adaptor, mu subunit, C-terminal (3);	0.229249	0.46145	D	0.000304	T	0.12603	0.0306	L	0.40543	1.245	0.22479	N	0.999061	P;B;B	0.36183	0.542;0.322;0.165	B;B;B	0.30029	0.101;0.11;0.093	T	0.14337	-1.0476	10	0.49607	T	0.09	.	9.5862	0.39517	0.2127:0.0:0.6459:0.1414	.	472;472;472	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	D	472	ENSP00000385273:E472D;ENSP00000384615:E472D;ENSP00000310969:E472D;ENSP00000385499:E472D;ENSP00000385701:E472D;ENSP00000378236:E472D;ENSP00000311493:E472D;ENSP00000378234:E472D	ENSP00000310969:E472D	E	+	3	2	STON1-GTF2A1L;STON1	48662692	0.743000	0.28239	0.804000	0.32291	0.050000	0.14768	-0.095000	0.11077	-0.337000	0.08426	-0.302000	0.09304	GAG		0.358	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		42	65	1	0	2.35958e-20	1	3.09731e-20	42	65				
EPHB3	2049	broad.mit.edu	37	3	184297592	184297592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184297592G>A	ENST00000330394.2	+	11	2494	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACTTCCTAAGCGAGGCCTCC	0.577																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2041-2043)aGc>aAc		EPH receptor B3							71.0	66.0	68.0					3																	184297592		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297592G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2042G>A	3.37:g.184297592G>A	ENSP00000332118:p.Ser681Asn					EIF2B5_ENST00000444495.1_Intron	p.S681N	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		11	2494	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		681			Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2042G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774638	0.70107	.	.	ENSG00000182580	ENST00000330394	D	0.82984	-1.67	4.8	4.8	0.61643	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.212842	0.47093	D	0.000255	T	0.73900	0.3646	N	0.12182	0.205	0.53688	D	0.999971	P	0.37158	0.585	B	0.39503	0.301	T	0.78991	-0.1985	10	0.72032	D	0.01	.	17.2344	0.86994	0.0:0.0:1.0:0.0	.	681	P54753	EPHB3_HUMAN	N	681	ENSP00000332118:S681N	ENSP00000332118:S681N	S	+	2	0	EPHB3	185780286	1.000000	0.71417	0.443000	0.26883	0.988000	0.76386	7.502000	0.81614	2.378000	0.81104	0.551000	0.68910	AGC		0.577	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		27	24	0	0	0	1	0	27	24				
DST	667	broad.mit.edu	37	6	56391170	56391170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56391170G>A	ENST00000361203.3	-	64	17165	c.17158C>T	c.(17158-17160)Cga>Tga	p.R5720*	DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.R3417*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3743*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.R3634*|DST_ENST00000370769.4_Nonsense_Mutation_p.R5831*|DST_ENST00000446842.2_Nonsense_Mutation_p.R5505*|DST_ENST00000370754.5_Nonsense_Mutation_p.R6009*			Q03001	DYST_HUMAN	dystonin	5720					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTGTGATCGCAGAATGGCT	0.443																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18025-18027)Cga>Tga		dystonin							157.0	142.0	147.0					6																	56391170		1955	4155	6110	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56391170G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17158C>T	6.37:g.56391170G>A	ENSP00000354508:p.Arg5720*					DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.R5831*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3743*|DST_ENST00000370788.2_Nonsense_Mutation_p.R3634*|DST_ENST00000244364.6_Nonsense_Mutation_p.R3417*|DST_ENST00000361203.3_Nonsense_Mutation_p.R5720*|DST_ENST00000446842.2_Nonsense_Mutation_p.R5505*|DST_ENST00000340834.4_5'UTR	p.R6009*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		69	18024	-	Lung NSC(77;0.103)		5829					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.18025C>T		.	.	.	.	.	.	.	.	.	.	G	57	28.178744	0.99973	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.73	-1.61	0.08399	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6306	0.85032	0.0:0.0:0.5612:0.4388	.	.	.	.	X	3417;6009;5831;3743;5505;3634;5720	.	ENSP00000244364:R3417X	R	-	1	2	DST	56499129	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	1.124000	0.31320	-0.377000	0.07930	-0.266000	0.10368	CGA		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		21	43	0	0	0	1	0	21	43				
MAP7D2	256714	broad.mit.edu	37	X	20060732	20060732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20060732G>A	ENST00000379651.3	-	7	790	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	MAP7D2_ENST00000443379.3_Missense_Mutation_p.R213W|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R206W|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R299W|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R143W	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	258					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CGTTGCCCCCGCTTCACCTTC	0.493																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(772-774)Cgg>Tgg		MAP7 domain containing 2							157.0	137.0	144.0					X																	20060732		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20060732G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.772C>T	X.37:g.20060732G>A	ENSP00000368972:p.Arg258Trp					MAP7D2_ENST00000379643.5_Missense_Mutation_p.R299W|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R143W|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R213W|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R206W	p.R258W	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			7	790	-			258					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.772C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184636	0.38609	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53	5.21	4.05	0.47172	.	0.224693	0.38959	N	0.001514	T	0.17492	0.0420	L	0.60455	1.87	0.20403	N	0.999901	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;D;P;D	0.66196	0.876;0.942;0.942;0.876;0.928	T	0.02553	-1.1142	10	0.72032	D	0.01	-13.3019	9.6843	0.40089	0.0:0.0:0.1812:0.8188	.	213;206;299;258;143	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	W	258;299;143;213;206	ENSP00000368972:R258W;ENSP00000368964:R299W;ENSP00000440691:R143W;ENSP00000388239:R213W;ENSP00000413301:R206W	ENSP00000368964:R299W	R	-	1	2	MAP7D2	19970653	0.995000	0.38212	0.011000	0.14972	0.059000	0.15707	2.533000	0.45667	0.743000	0.32719	-0.315000	0.08773	CGG		0.493	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		62	102	0	0	0	1	0	62	102				
PUM1	9698	broad.mit.edu	37	1	31467908	31467908	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31467908C>A	ENST00000257075.5	-	6	973	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373747.3_Missense_Mutation_p.D294Y|PUM1_ENST00000423018.2_Missense_Mutation_p.D198Y|PUM1_ENST00000440538.2_Missense_Mutation_p.D294Y|PUM1_ENST00000426105.2_Missense_Mutation_p.D294Y|PUM1_ENST00000373742.2_Missense_Mutation_p.D234Y|PUM1_ENST00000373741.4_Missense_Mutation_p.D330Y	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	294					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AACCTAAAATCTTTGACGTCT	0.373																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(880-882)Gat>Tat		pumilio RNA-binding family member 1							251.0	237.0	242.0					1																	31467908		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31467908C>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.880G>T	1.37:g.31467908C>A	ENSP00000257075:p.Asp294Tyr					PUM1_ENST00000426105.2_Missense_Mutation_p.D294Y|PUM1_ENST00000373741.4_Missense_Mutation_p.D330Y|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Missense_Mutation_p.D234Y|PUM1_ENST00000423018.2_Missense_Mutation_p.D198Y|PUM1_ENST00000440538.2_Missense_Mutation_p.D294Y|PUM1_ENST00000257075.5_Missense_Mutation_p.D294Y	p.D294Y	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	6	979	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	294					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.880G>T	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342614|4.342614	0.82022|0.82022	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952|ENST00000525843;ENST00000532678	T;T;T;T;T;T;T|.	0.21191|.	2.2;2.46;2.46;2.41;2.45;2.15;2.02|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.089728|.	0.85682|.	D|.	0.000000|.	T|T	0.73171|0.73171	0.3553|0.3553	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.83275|.	0.962;0.99;0.962;0.996;0.935;0.962;0.935|.	T|T	0.68953|0.68953	-0.5273|-0.5273	10|5	0.87932|.	D|.	0|.	-12.1721|-12.1721	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	234;198;330;294;294;294;294|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4|.	.;.;.;.;PUM1_HUMAN;.;.|.	Y|I	294;294;294;294;330;198;234;294|310;15	ENSP00000257075:D294Y;ENSP00000362852:D294Y;ENSP00000391723:D294Y;ENSP00000401777:D294Y;ENSP00000362846:D330Y;ENSP00000399440:D198Y;ENSP00000362847:D234Y|.	ENSP00000257075:D294Y|.	D|R	-|-	1|2	0|0	PUM1|PUM1	31240495|31240495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.490000|6.490000	0.73645|0.73645	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.373	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			12	146	1	0	0.0809354	1	0.0825713	12	146				
LPA	4018	broad.mit.edu	37	6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160999636G>A	ENST00000316300.5	-	27	4434	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	LPA_ENST00000447678.1_Nonsense_Mutation_p.R1464*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4390-4392)Cga>Tga		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						147.0	156.0	153.0					6																	160999636		2164	4290	6454	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999636G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4390C>T	6.37:g.160999636G>A	ENSP00000321334:p.Arg1464*					LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464*	p.R1464*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4510	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3972			Kringle 13.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.4390C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	40	8.432078	0.98808	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.37	-4.07	0.03975	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	9.0646	0.36455	0.0:0.0:0.5818:0.4182	.	.	.	.	X	1464	.	ENSP00000321334:R1464X	R	-	1	2	LPA	160919626	0.001000	0.12720	0.000000	0.03702	0.350000	0.29205	0.929000	0.28844	-0.794000	0.04468	0.174000	0.16983	CGA		0.527	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		9	63	0	0	0	1	0	9	63				
HMGB2	3148	broad.mit.edu	37	4	174253297	174253297	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:174253297T>C	ENST00000296503.5	-	5	1437	c.564A>G	c.(562-564)gaA>gaG	p.E188E	HMGB2_ENST00000438704.2_Silent_p.E188E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Silent_p.E188E			P26583	HMGB2_HUMAN	high mobility group box 2	188	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cctcctcatcttctggttcgt	0.458																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(562-564)gaA>gaG		high mobility group box 2							233.0	200.0	211.0					4																	174253297		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253297T>C		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.564A>G	4.37:g.174253297T>C						HMGB2_ENST00000438704.2_Silent_p.E188E|HMGB2_ENST00000446922.2_Silent_p.E188E	p.E188E			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1437	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	188			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.564A>G	CCDS3816.1																																																																																				0.458	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		9	91	0	0	0	1	0	9	91				
SERPINA12	145264	broad.mit.edu	37	14	94964255	94964255	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964255G>A	ENST00000341228.2	-	3	1275	c.480C>T	c.(478-480)gcC>gcT	p.A160A	SERPINA12_ENST00000556881.1_Silent_p.A160A	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	160					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A160A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGATGGTTTCGGCACTGTAAA	0.443																																						ENST00000341228.2																			1	Substitution - coding silent(1)	p.A160A(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(478-480)gcC>gcT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							113.0	109.0	110.0					14																	94964255		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964255G>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.480C>T	14.37:g.94964255G>A						SERPINA12_ENST00000556881.1_Silent_p.A160A	p.A160A	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1275	-			160						Silent	SNP	ENST00000341228.2	37	c.480C>T	CCDS9926.1																																																																																				0.443	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		31	68	0	0	0	1	0	31	68				
NEB	4703	broad.mit.edu	37	2	152497084	152497084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152497084C>T	ENST00000172853.10	-	61	8617	c.8470G>A	c.(8470-8472)Gcc>Acc	p.A2824T	NEB_ENST00000427231.2_Missense_Mutation_p.A2824T|NEB_ENST00000409198.1_Missense_Mutation_p.A2824T|NEB_ENST00000604864.1_Missense_Mutation_p.A2824T|NEB_ENST00000397345.3_Missense_Mutation_p.A2824T|NEB_ENST00000603639.1_Missense_Mutation_p.A2824T			P20929	NEBU_HUMAN	nebulin	2824					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGATCTTGGCCACGTGCATG	0.527																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(8470-8472)Gcc>Acc		nebulin							283.0	268.0	273.0					2																	152497084		1967	4159	6126	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497084C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8470G>A	2.37:g.152497084C>T	ENSP00000172853:p.Ala2824Thr					NEB_ENST00000409198.1_Missense_Mutation_p.A2824T|NEB_ENST00000397345.3_Missense_Mutation_p.A2824T|NEB_ENST00000603639.1_Missense_Mutation_p.A2824T|NEB_ENST00000604864.1_Missense_Mutation_p.A2824T|NEB_ENST00000172853.10_Missense_Mutation_p.A2824T	p.A2824T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8672	-			2824					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8470G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.531500	0.96446	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60459	-0.7259	10	0.42905	T	0.14	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	2824	P20929	NEBU_HUMAN	T	2824	ENSP00000386259:A2824T;ENSP00000380505:A2824T;ENSP00000416578:A2824T;ENSP00000172853:A2824T	ENSP00000172853:A2824T	A	-	1	0	NEB	152205330	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.683000	0.84093	2.885000	0.99019	0.655000	0.94253	GCC		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		111	169	0	0	0	1	0	111	169				
RALGAPA1	253959	broad.mit.edu	37	14	36217850	36217850	+	Missense_Mutation	SNP	G	G	A	rs368011492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217850G>A	ENST00000389698.3	-	10	1582	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R398C	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	398					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R398C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAACTCTGCGAACTATTTCA	0.368																																						ENST00000258840.6																			2	Substitution - Missense(2)	p.R398C(2)	large_intestine(2)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1192-1194)Cgc>Tgc		Ral GTPase activating protein, alpha subunit 1 (catalytic)							29.0	29.0	29.0					14																	36217850		2201	4292	6493	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36217850G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1192C>T	14.37:g.36217850G>A	ENSP00000374348:p.Arg398Cys					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R398C|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R398C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R398C	p.R398C			Q6GYQ0	RGPA1_HUMAN			10	1582	-			398					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.1192C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332062	0.81801	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	L	0.59436	1.845	0.80722	D	1	D;D;B;D;D	0.89917	1.0;1.0;0.061;1.0;1.0	D;D;B;D;D	0.91635	0.999;0.997;0.063;0.995;0.965	D	0.87137	0.2200	10	0.72032	D	0.01	-5.7891	20.1162	0.97934	0.0:0.0:1.0:0.0	.	398;398;398;398;398	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	C	398	ENSP00000374348:R398C;ENSP00000302647:R398C;ENSP00000258840:R398C;ENSP00000371803:R398C;ENSP00000451877:R398C	ENSP00000258840:R398C	R	-	1	0	RALGAPA1	35287601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.348000	0.52209	2.756000	0.94617	0.655000	0.94253	CGC		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		23	24	0	0	0	1	0	23	24				
HAUS5	23354	broad.mit.edu	37	19	36109559	36109559	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36109559T>G	ENST00000203166.5	+	12	999	c.974T>G	c.(973-975)cTg>cGg	p.L325R	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	325					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTCCAGGGCCTGGTGGAGGAG	0.662																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(973-975)cTg>cGg		HAUS augmin-like complex, subunit 5							47.0	52.0	50.0					19																	36109559		1974	4140	6114	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36109559T>G	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.974T>G	19.37:g.36109559T>G	ENSP00000439056:p.Leu325Arg					HAUS5_ENST00000379045.2_3'UTR	p.L325R	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			12	999	+			325					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.974T>G	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917172	0.33815	.	.	ENSG00000249115	ENST00000203166	T	0.26957	1.7	5.6	5.6	0.85130	.	0.091171	0.44483	D	0.000448	T	0.40473	0.1118	L	0.46947	1.48	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.09465	-1.0673	10	0.29301	T	0.29	-23.8329	12.1806	0.54210	0.0:0.0:0.0:1.0	.	325	O94927	HAUS5_HUMAN	R	325	ENSP00000439056:L325R	ENSP00000439056:L325R	L	+	2	0	HAUS5	40801399	1.000000	0.71417	0.973000	0.42090	0.004000	0.04260	3.787000	0.55439	2.144000	0.66660	0.460000	0.39030	CTG		0.662	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			5	44	0	0	0	1	0	5	44				
OR51M1	390059	broad.mit.edu	37	11	5410781	5410781	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5410781C>A	ENST00000328611.3	+	1	175	c.153C>A	c.(151-153)atC>atA	p.I51I	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	51					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTGCCATCTCAGGCAATT	0.453																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(151-153)atC>atA		olfactory receptor, family 51, subfamily M, member 1							170.0	158.0	162.0					11																	5410781		1967	4155	6122	SO:0001819	synonymous_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5410781C>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.153C>A	11.37:g.5410781C>A						HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	p.I51I	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	175	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	51					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.153C>A	CCDS53596.1																																																																																				0.453	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		7	117	1	0	0.000157383	1	0.00017284	7	117				
HIST1H2BA	255626	broad.mit.edu	37	6	25727362	25727362	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25727362G>T	ENST00000274764.2	+	1	226	c.226G>T	c.(226-228)Gcg>Tcg	p.A76S	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	76					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						TGAGCGTATAGCGAGCGAGGC	0.507																																						ENST00000274764.2																			0				breast(1)|kidney(1)	2						c.(226-228)Gcg>Tcg		histone cluster 1, H2ba							395.0	295.0	329.0					6																	25727362		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727362G>T	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.226G>T	6.37:g.25727362G>T	ENSP00000274764:p.Ala76Ser						p.A76S	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN			1	226	+			76					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.226G>T	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247975	0.22880	.	.	ENSG00000146047	ENST00000274764	T	0.70045	-0.45	3.16	1.19	0.21007	Histone-fold (2);Histone core (1);	0.155232	0.40728	N	0.001032	T	0.50188	0.1601	M	0.78223	2.4	0.45762	D	0.998656	B	0.06786	0.001	B	0.15484	0.013	T	0.56220	-0.8015	10	0.72032	D	0.01	.	10.3283	0.43807	0.0:0.0:0.6459:0.3541	.	76	Q96A08	H2B1A_HUMAN	S	76	ENSP00000274764:A76S	ENSP00000274764:A76S	A	+	1	0	HIST1H2BA	25835341	0.994000	0.37717	0.001000	0.08648	0.007000	0.05969	3.154000	0.50693	0.297000	0.22615	0.644000	0.83932	GCG		0.507	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		19	32	1	0	6.33239e-15	1	8.10486e-15	19	32				
ITPR3	3710	broad.mit.edu	37	6	33635017	33635017	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33635017C>A	ENST00000374316.5	+	16	2723	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	ITPR3_ENST00000605930.1_Missense_Mutation_p.L555M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	555					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CATGTTCCGCCTGTGCTACCG	0.647																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1663-1665)Ctg>Atg		inositol 1,4,5-trisphosphate receptor, type 3							67.0	56.0	60.0					6																	33635017		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33635017C>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1663C>A	6.37:g.33635017C>A	ENSP00000363435:p.Leu555Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.L555M	p.L555M			Q14573	ITPR3_HUMAN			16	2723	+			555					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1663C>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917397	0.73098	.	.	ENSG00000096433	ENST00000374316	D	0.96459	-4.02	4.51	4.51	0.55191	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000001	D	0.98479	0.9493	M	0.92219	3.285	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.99797	1.1034	10	0.87932	D	0	-30.3958	17.6079	0.88044	0.0:1.0:0.0:0.0	.	555	Q14573	ITPR3_HUMAN	M	555	ENSP00000363435:L555M	ENSP00000363435:L555M	L	+	1	2	ITPR3	33742995	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.024000	0.70857	2.222000	0.72286	0.462000	0.41574	CTG		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		10	17	1	0	7.48243e-07	1	8.70085e-07	10	17				
MAP2K2	5605	broad.mit.edu	37	19	4110573	4110573	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4110573C>T	ENST00000262948.5	-	3	637	c.384G>A	c.(382-384)ccG>ccA	p.P128P	MAP2K2_ENST00000394867.4_Silent_p.P31P|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> Q (in CFC4; results in increased kinase activity). {ECO:0000269|PubMed:20358587}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	CCACGATGTACGGCGAGTTGC	0.622																																						ENST00000262948.5																			0											c.(382-384)ccG>ccA		mitogen-activated protein kinase kinase 2							92.0	76.0	81.0					19																	4110573		2203	4300	6503	SO:0001819	synonymous_variant	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4110573C>T	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.384G>A	19.37:g.4110573C>T						MAP2K2_ENST00000394867.4_Silent_p.P31P|MAP2K2_ENST00000599345.1_5'UTR	p.P128P	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	3	637	-		Hepatocellular(1079;0.137)	128			Protein kinase.			Silent	SNP	ENST00000262948.5	37	c.384G>A	CCDS12120.1																																																																																				0.622	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			19	23	0	0	0	1	0	19	23				
ESRP2	80004	broad.mit.edu	37	16	68264211	68264211	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68264211G>T	ENST00000565858.1	-	15	2188	c.2102C>A	c.(2101-2103)gCt>gAt	p.A701D	ESRP2_ENST00000473183.2_Missense_Mutation_p.A691D|RP11-96D1.10_ENST00000571975.1_RNA|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	701					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GTAGTCATCAGCGGGTAGCTA	0.577											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(2071-2073)gCt>gAt		epithelial splicing regulatory protein 2							114.0	125.0	121.0					16																	68264211		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68264211G>T	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2102C>A	16.37:g.68264211G>T	ENSP00000454554:p.Ala701Asp		OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1105	ESRP2_ENST00000565858.1_Missense_Mutation_p.A701D	p.A691D			Q9H6T0	ESRP2_HUMAN			15	2610	-			701					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.2072C>A		.	.	.	.	.	.	.	.	.	.	G	13.20	2.167637	0.38315	.	.	ENSG00000103067	ENST00000473183	T	0.10099	2.91	5.82	5.82	0.92795	.	0.212598	0.50627	D	0.000119	T	0.10637	0.0260	N	0.19112	0.55	0.33919	D	0.640657	B;B	0.25486	0.078;0.127	B;B	0.28916	0.044;0.096	T	0.12553	-1.0543	10	0.54805	T	0.06	-5.3866	18.2731	0.90074	0.0:0.0:1.0:0.0	.	701;691	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	D	691	ENSP00000418748:A691D	ENSP00000418748:A691D	A	-	2	0	ESRP2	66821712	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.420000	0.73349	2.745000	0.94114	0.561000	0.74099	GCT		0.577	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		5	102	1	0	0.014758	1	0.0152625	5	102				
PPP1R14B	26472	broad.mit.edu	37	11	64012292	64012292	+	Silent	SNP	G	G	T	rs375040898		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64012292G>T	ENST00000309318.3	-	4	645	c.378C>A	c.(376-378)gcC>gcA	p.A126A	PPP1R14B_ENST00000392210.2_Silent_p.A24A|RP11-783K16.13_ENST00000545800.1_lincRNA|RP11-783K16.5_ENST00000538355.1_RNA|RP11-783K16.5_ENST00000544553.1_RNA|PPP1R14B_ENST00000542235.1_Silent_p.A51A	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	126					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						CAGAAATGAAGGCCTGGATGG	0.632																																						ENST00000309318.3																			0				kidney(1)|lung(1)|pancreas(1)	3						c.(376-378)gcC>gcA		protein phosphatase 1, regulatory (inhibitor) subunit 14B							49.0	49.0	49.0					11																	64012292		2201	4297	6498	SO:0001819	synonymous_variant	26472				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr11:64012292G>T	X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.378C>A	11.37:g.64012292G>T						PPP1R14B_ENST00000542235.1_Silent_p.A51A|PPP1R14B_ENST00000392210.2_Silent_p.A24A	p.A126A	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN			4	645	-			126					Q504S7|Q7KZD7	Silent	SNP	ENST00000309318.3	37	c.378C>A	CCDS31596.1																																																																																				0.632	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396586.2	NM_138689		27	47	1	0	1.39806e-14	1	1.78606e-14	27	47				
RFX7	64864	broad.mit.edu	37	15	56385982	56385982	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56385982G>T	ENST00000559447.2	-	9	3924	c.3653C>A	c.(3652-3654)tCt>tAt	p.S1218Y	RFX7_ENST00000423270.1_Missense_Mutation_p.S1315Y|RFX7_ENST00000422057.1_Missense_Mutation_p.S1218Y|RFX7_ENST00000317318.6_Missense_Mutation_p.S1315Y			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1218					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGAGGTAAGATGGTGTTTG	0.388																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3943-3945)tCt>tAt		regulatory factor X, 7							102.0	93.0	96.0					15																	56385982		1837	4081	5918	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56385982G>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3653C>A	15.37:g.56385982G>T	ENSP00000453281:p.Ser1218Tyr					RFX7_ENST00000559447.2_Missense_Mutation_p.S1218Y|RFX7_ENST00000422057.1_Missense_Mutation_p.S1218Y|RFX7_ENST00000317318.6_Missense_Mutation_p.S1315Y	p.S1315Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	3943	-			1218					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.3944C>A		.	.	.	.	.	.	.	.	.	.	G	12.64	1.998465	0.35226	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.55930	0.49;0.49;0.49	5.96	5.96	0.96718	.	0.329603	0.33023	N	0.005361	T	0.39253	0.1071	N	0.14661	0.345	0.38392	D	0.94543	P;P	0.46395	0.641;0.877	B;B	0.41723	0.216;0.365	T	0.48875	-0.8996	10	0.72032	D	0.01	-15.5456	14.8426	0.70237	0.0:0.0:0.8476:0.1524	.	1218;1218	Q2KHR2;C9JU50	RFX7_HUMAN;.	Y	1218;1315;1315	ENSP00000387504:S1218Y;ENSP00000313299:S1315Y;ENSP00000397644:S1315Y	ENSP00000313299:S1315Y	S	-	2	0	RFX7	54173274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.465000	0.35299	2.832000	0.97577	0.655000	0.94253	TCT		0.388	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		25	42	1	0	2.79863e-10	1	3.44159e-10	25	42				
HSH2D	84941	broad.mit.edu	37	19	16268152	16268152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16268152C>T	ENST00000253680.6	+	8	1138	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	HSH2D_ENST00000593154.2_Missense_Mutation_p.L203F|HSH2D_ENST00000588246.1_Missense_Mutation_p.L203F|HSH2D_ENST00000397372.4_Missense_Mutation_p.L114F			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	203					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCGCCAGAAACTCTGGAGGAG	0.552																																						ENST00000593154.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(607-609)Ctc>Ttc		hematopoietic SH2 domain containing							44.0	51.0	49.0					19																	16268152		1843	4082	5925	SO:0001583	missense	84941					cytoplasm|nucleus		g.chr19:16268152C>T	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.607C>T	19.37:g.16268152C>T	ENSP00000253680:p.Leu203Phe					HSH2D_ENST00000588246.1_Missense_Mutation_p.L203F|HSH2D_ENST00000253680.6_Missense_Mutation_p.L203F|HSH2D_ENST00000397372.4_Missense_Mutation_p.L114F	p.L203F	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN			8	1138	+			203					B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37	c.607C>T		.	.	.	.	.	.	.	.	.	.	C	16.81	3.226300	0.58668	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.58940	0.3	3.81	1.6	0.23607	.	0.327685	0.20777	N	0.085876	T	0.64940	0.2644	L	0.54323	1.7	0.29465	N	0.857498	D;D	0.71674	0.998;0.987	D;P	0.68943	0.961;0.808	T	0.59112	-0.7515	10	0.72032	D	0.01	.	6.8344	0.23927	0.2007:0.6053:0.1941:0.0	.	146;203	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	F	114;203	ENSP00000253680:L203F	ENSP00000253680:L203F	L	+	1	0	HSH2D	16129152	0.500000	0.26091	0.683000	0.30040	0.794000	0.44872	0.482000	0.22276	0.548000	0.28955	0.561000	0.74099	CTC		0.552	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		18	29	0	0	0	1	0	18	29				
CHN2	1124	broad.mit.edu	37	7	29546951	29546951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29546951G>A	ENST00000222792.6	+	11	1629	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	CHN2_ENST00000539389.1_Missense_Mutation_p.D223N|CHN2_ENST00000546235.1_Missense_Mutation_p.D352N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.D380N|CHN2_ENST00000539406.1_Missense_Mutation_p.D442N|CHN2_ENST00000424025.2_Missense_Mutation_p.D186N|CHN2_ENST00000409041.4_Missense_Mutation_p.D231N|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Missense_Mutation_p.D173N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	367	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CATCACATATGATACCTATTC	0.338																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(1099-1101)Gat>Aat		chimerin 2							100.0	91.0	94.0					7																	29546951		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29546951G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1099G>A	7.37:g.29546951G>A	ENSP00000222792:p.Asp367Asn					CHN2_ENST00000421775.2_Missense_Mutation_p.D173N|CHN2_ENST00000424025.2_Missense_Mutation_p.D186N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000409041.4_Missense_Mutation_p.D231N|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000539389.1_Missense_Mutation_p.D223N|CHN2_ENST00000495789.2_Missense_Mutation_p.D380N|CHN2_ENST00000546235.1_Missense_Mutation_p.D352N|CHN2_ENST00000539406.1_Missense_Mutation_p.D442N	p.D367N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			11	1629	+			367			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1099G>A	CCDS5420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.446699|4.446699	0.84101|0.84101	.|.	.|.	ENSG00000106069|ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000421775|ENST00000433720	T;T;T;T;T;T;T;T|.	0.19250|.	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.041764|.	0.85682|.	D|.	0.000000|.	T|T	0.71904|0.71904	0.3395|0.3395	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	B;P;P;D;P;P;P;P;P;P|.	0.61080|.	0.173;0.747;0.953;0.989;0.884;0.939;0.504;0.733;0.884;0.733|.	B;P;P;P;P;P;B;P;P;P|.	0.57679|.	0.147;0.69;0.718;0.769;0.756;0.825;0.416;0.496;0.756;0.496|.	T|T	0.68168|0.68168	-0.5480|-0.5480	10|5	0.62326|.	D|.	0.03|.	.|.	19.1752|19.1752	0.93601|0.93601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	160;352;380;442;186;173;223;367;231;367|.	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757|.	.;.;.;.;.;.;.;.;.;CHIO_HUMAN|.	N|I	442;367;380;223;352;231;186;173|45	ENSP00000444063:D442N;ENSP00000222792:D367N;ENSP00000438587:D380N;ENSP00000440526:D223N;ENSP00000442812:D352N;ENSP00000386849:D231N;ENSP00000406337:D186N;ENSP00000394284:D173N|.	ENSP00000222792:D367N|.	D|M	+|+	1|3	0|0	CHN2|CHN2	29513476|29513476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.950000|7.950000	0.87804|0.87804	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.338	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		4	88	0	0	0	1	0	4	88				
IP6K3	117283	broad.mit.edu	37	6	33693227	33693227	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33693227G>A	ENST00000293756.4	-	5	1082	c.756C>T	c.(754-756)tgC>tgT	p.C252C	IP6K3_ENST00000451316.1_Silent_p.C252C	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	252					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CCTGCATGCCGCAGATGCGCA	0.667																																						ENST00000451316.1																			0				skin(1)	1						c.(754-756)tgC>tgT		inositol hexakisphosphate kinase 3							49.0	43.0	45.0					6																	33693227		2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33693227G>A	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.756C>T	6.37:g.33693227G>A						IP6K3_ENST00000293756.4_Silent_p.C252C	p.C252C	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			6	1291	-			252					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.756C>T	CCDS34435.1																																																																																				0.667	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		11	18	0	0	0	1	0	11	18				
NBPF1	55672	broad.mit.edu	37	1	16921465	16921465	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16921465G>A	ENST00000430580.2	-	0	461					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACGATTCGTTTTCTTGTA	0.363																																						ENST00000430580.2																			0													neuroblastoma breakpoint family, member 1																																						55672					cytoplasm		g.chr1:16921465G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.-427C>T	1.37:g.16921465G>A								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	0	461	-								Q8N4E8|Q9C0H0	Translation_Start_Site	SNP	ENST00000430580.2	37																																																																																						0.363	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		3	33	0	0	0	1	0	3	33				
GPR112	139378	broad.mit.edu	37	X	135430313	135430313	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135430313A>G	ENST00000394143.1	+	6	4739	c.4448A>G	c.(4447-4449)gAc>gGc	p.D1483G	GPR112_ENST00000370652.1_Missense_Mutation_p.D1483G|GPR112_ENST00000394141.1_Missense_Mutation_p.D1278G|GPR112_ENST00000287534.4_Missense_Mutation_p.D1420G|GPR112_ENST00000412101.1_Missense_Mutation_p.D1278G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1483					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTCTCTCCGACAGGATCACT	0.438																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4447-4449)gAc>gGc		G protein-coupled receptor 112							100.0	98.0	98.0					X																	135430313		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430313A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4448A>G	X.37:g.135430313A>G	ENSP00000377699:p.Asp1483Gly					GPR112_ENST00000412101.1_Missense_Mutation_p.D1278G|GPR112_ENST00000370652.1_Missense_Mutation_p.D1483G|GPR112_ENST00000287534.4_Missense_Mutation_p.D1420G|GPR112_ENST00000394141.1_Missense_Mutation_p.D1278G	p.D1483G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4739	+	Acute lymphoblastic leukemia(192;0.000127)		1483					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4448A>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	14.75	2.629444	0.46944	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34472	1.4;1.4;1.36;1.49;1.36	2.81	2.81	0.32909	.	.	.	.	.	T	0.44435	0.1293	L	0.32530	0.975	0.09310	N	1	D;D;P	0.67145	0.996;0.974;0.956	D;P;B	0.77557	0.99;0.598;0.287	T	0.14008	-1.0488	9	0.59425	D	0.04	.	7.1703	0.25715	1.0:0.0:0.0:0.0	.	1420;1278;1483	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	G	1483;1483;1278;1420;1278	ENSP00000377699:D1483G;ENSP00000359686:D1483G;ENSP00000416526:D1278G;ENSP00000287534:D1420G;ENSP00000377697:D1278G	ENSP00000287534:D1420G	D	+	2	0	GPR112	135257979	0.020000	0.18652	0.003000	0.11579	0.219000	0.24729	2.653000	0.46691	1.114000	0.41781	0.378000	0.23410	GAC		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			13	181	0	0	0	1	0	13	181				
BICD2	23299	broad.mit.edu	37	9	95481641	95481641	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481641A>G	ENST00000375512.3	-	5	1353	c.1286T>C	c.(1285-1287)aTc>aCc	p.I429T	BICD2_ENST00000356884.6_Missense_Mutation_p.I429T	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	429					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCCCGTTGATGTCCACCTC	0.647																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1285-1287)aTc>aCc		bicaudal D homolog 2 (Drosophila)							144.0	115.0	125.0					9																	95481641		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481641A>G	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1286T>C	9.37:g.95481641A>G	ENSP00000364662:p.Ile429Thr					BICD2_ENST00000375512.3_Missense_Mutation_p.I429T	p.I429T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1353	-			429					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1286T>C	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038700	0.55003	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.46063	0.88;0.88	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.45614	-0.9249	10	0.08599	T	0.76	-33.6417	13.0242	0.58806	1.0:0.0:0.0:0.0	.	429;429	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	T	429	ENSP00000349351:I429T;ENSP00000364662:I429T	ENSP00000349351:I429T	I	-	2	0	BICD2	94521462	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.213000	0.95133	2.040000	0.60383	0.459000	0.35465	ATC		0.647	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		13	29	0	0	0	1	0	13	29				
AARS	16	broad.mit.edu	37	16	70292106	70292106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70292106C>A	ENST00000261772.8	-	15	2150	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GGGGGCAATCCTGGGTATAGA	0.597																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2005-2007)caG>caT		alanyl-tRNA synthetase	L-Alanine(DB00160)						29.0	24.0	26.0					16																	70292106		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70292106C>A	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.2007G>T	16.37:g.70292106C>A	ENSP00000261772:p.Gln669His					AARS_ENST00000564359.1_Intron	p.Q669H	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	15	2150	-		Ovarian(137;0.0365)	669						Missense_Mutation	SNP	ENST00000261772.8	37	c.2007G>T	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.906684	0.33628	.	.	ENSG00000090861	ENST00000261772	T	0.64438	-0.1	5.91	5.91	0.95273	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.433715	0.26133	N	0.026147	T	0.55417	0.1919	L	0.35644	1.08	0.51233	D	0.999914	B;P	0.34837	0.153;0.472	B;B	0.39068	0.149;0.289	T	0.58584	-0.7611	10	0.66056	D	0.02	-11.1289	11.1023	0.48182	0.0:0.9171:0.0:0.0829	.	677;669	E7ETK8;P49588	.;SYAC_HUMAN	H	669	ENSP00000261772:Q669H	ENSP00000261772:Q669H	Q	-	3	2	AARS	68849607	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	2.554000	0.45845	2.793000	0.96121	0.655000	0.94253	CAG		0.597	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		6	2	1	0	0.217242	1	0.218821	6	2				
CHD4	1108	broad.mit.edu	37	12	6702687	6702687	+	Silent	SNP	G	G	A	rs112803905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6702687G>A	ENST00000357008.2	-	16	2572	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	CHD4_ENST00000309577.6_Silent_p.V803V|CHD4_ENST00000544040.1_Silent_p.V796V|CHD4_ENST00000544484.1_Silent_p.V800V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	803	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CATAGGTTACGACATACATGT	0.527																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2407-2409)gtC>gtT		chromodomain helicase DNA binding protein 4							159.0	138.0	145.0					12																	6702687		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6702687G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2409C>T	12.37:g.6702687G>A						CHD4_ENST00000544040.1_Silent_p.V796V|CHD4_ENST00000544484.1_Silent_p.V800V|CHD4_ENST00000357008.2_Silent_p.V803V	p.V803V			Q14839	CHD4_HUMAN			16	2572	-			803			Helicase ATP-binding.		Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.2409C>T	CCDS8552.1																																																																																				0.527	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		40	61	0	0	0	1	0	40	61				
LPA	4018	broad.mit.edu	37	6	161015120	161015120	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161015120C>A	ENST00000316300.5	-	22	3543	c.3499G>T	c.(3499-3501)Gat>Tat	p.D1167Y	LPA_ENST00000447678.1_Missense_Mutation_p.D1167Y			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3675	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCCCG	0.478																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3499-3501)Gat>Tat		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						119.0	121.0	120.0					6																	161015120		2045	4245	6290	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161015120C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3499G>T	6.37:g.161015120C>A	ENSP00000321334:p.Asp1167Tyr					LPA_ENST00000316300.5_Missense_Mutation_p.D1167Y	p.D1167Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	23	3619	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3675			Kringle 11.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3499G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	9.301	1.052987	0.19907	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.64438	-0.1;-0.1	2.56	2.56	0.30785	Kringle (3);Kringle-like fold (1);	.	.	.	.	T	0.69342	0.3100	M	0.82823	2.61	0.23406	N	0.997748	D	0.71674	0.998	D	0.77004	0.989	T	0.56577	-0.7956	9	0.72032	D	0.01	.	8.6141	0.33820	0.0:1.0:0.0:0.0	.	3675	P08519	APOA_HUMAN	Y	1167	ENSP00000321334:D1167Y;ENSP00000395608:D1167Y	ENSP00000321334:D1167Y	D	-	1	0	LPA	160935110	1.000000	0.71417	0.306000	0.25113	0.008000	0.06430	2.726000	0.47302	1.415000	0.47037	0.436000	0.28706	GAT		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	61	1	0	0.0381472	1	0.0390147	6	61				
ITGB7	3695	broad.mit.edu	37	12	53589427	53589427	+	Missense_Mutation	SNP	C	C	T	rs371126896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53589427C>T	ENST00000267082.5	-	8	1285	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	ITGB7_ENST00000422257.3_Missense_Mutation_p.A352T|ITGB7_ENST00000338737.4_Missense_Mutation_p.A352T|ITGB7_ENST00000550743.2_Missense_Mutation_p.A352T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	352	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGGCAGTGCGGCACTGGTG	0.567																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1054-1056)Gca>Aca		integrin, beta 7		C	THR/ALA	0,4406		0,0,2203	114.0	111.0	112.0		1054	0.8	0.7	12		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB7	NM_000889.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	352/799	53589427	1,13005	2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53589427C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1054G>A	12.37:g.53589427C>T	ENSP00000267082:p.Ala352Thr					ITGB7_ENST00000338737.4_Missense_Mutation_p.A352T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A352T|ITGB7_ENST00000550743.2_Missense_Mutation_p.A352T	p.A352T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			8	1285	-			352			VWFA.		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.1054G>A	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	3.587	-0.084461	0.07097	0.0	1.16E-4	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	4.37	0.838	0.18902	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.169958	0.28510	N	0.015090	D	0.88407	0.6428	N	0.04132	-0.27	0.18873	N	0.999982	B	0.02656	0.0	B	0.04013	0.001	T	0.79117	-0.1935	10	0.18710	T	0.47	.	7.4881	0.27445	0.0:0.3914:0.0:0.6086	.	352	P26010	ITB7_HUMAN	T	352	ENSP00000408741:A352T;ENSP00000267082:A352T;ENSP00000345501:A352T;ENSP00000437375:A352T	ENSP00000267082:A352T	A	-	1	0	ITGB7	51875694	0.013000	0.17824	0.678000	0.29963	0.432000	0.31715	1.137000	0.31479	0.324000	0.23333	-0.373000	0.07131	GCA		0.567	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			43	58	0	0	0	1	0	43	58				
INTS3	65123	broad.mit.edu	37	1	153719517	153719517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153719517C>A	ENST00000318967.2	+	4	971	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.L135M|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	135					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGAAGTACCTGAAGCTGCA	0.458																																						ENST00000318967.2																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(403-405)Ctg>Atg		integrator complex subunit 3							83.0	85.0	84.0					1																	153719517		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153719517C>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.403C>A	1.37:g.153719517C>A	ENSP00000318641:p.Leu135Met					RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.L135M|INTS3_ENST00000456435.1_5'UTR	p.L135M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	971	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		135					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.403C>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317403	0.60524	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	4.82	0.0442	0.14224	.	0.000000	0.64402	D	0.000001	T	0.55016	0.1894	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.54682	-0.8257	9	0.33940	T	0.23	.	9.5615	0.39371	0.0:0.6707:0.0:0.3293	.	135	Q68E01-2	.	M	135	.	ENSP00000318641:L135M	L	+	1	2	INTS3	151986141	0.987000	0.35691	0.999000	0.59377	0.997000	0.91878	0.246000	0.18160	0.070000	0.16634	0.561000	0.74099	CTG		0.458	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		35	36	1	0	3.33393e-15	1	4.27331e-15	35	36				
ZNF558	148156	broad.mit.edu	37	19	8922631	8922631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8922631G>T	ENST00000601372.1	-	10	1246	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	ZNF558_ENST00000301475.1_Missense_Mutation_p.P179T|ZNF558_ENST00000444186.2_Missense_Mutation_p.P108T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCATAGGGTTTTTCTCCA	0.383																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(535-537)Ccc>Acc		zinc finger protein 558							58.0	56.0	57.0					19																	8922631		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922631G>T	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.535C>A	19.37:g.8922631G>T	ENSP00000471277:p.Pro179Thr					ZNF558_ENST00000301475.1_Missense_Mutation_p.P179T|ZNF558_ENST00000444186.2_Missense_Mutation_p.P108T	p.P179T			Q96NG5	ZN558_HUMAN			10	1246	-			179					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.535C>A	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189960	0.78789	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.16897	2.31;2.31	4.77	4.77	0.60923	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41194	D	0.000932	T	0.46112	0.1376	M	0.85299	2.745	0.48288	D	0.999628	D	0.89917	1.0	D	0.73708	0.981	T	0.53012	-0.8498	10	0.87932	D	0	-10.9275	15.3356	0.74250	0.0:0.0:1.0:0.0	.	179	Q96NG5	ZN558_HUMAN	T	179;108	ENSP00000301475:P179T;ENSP00000410703:P108T	ENSP00000301475:P179T	P	-	1	0	ZNF558	8783631	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.818000	0.91991	2.485000	0.83878	0.591000	0.81541	CCC		0.383	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		33	34	1	0	1.74807e-11	1	2.18057e-11	33	34				
TTC5	91875	broad.mit.edu	37	14	20757814	20757814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757814G>A	ENST00000258821.3	-	10	1351	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	TTC5_ENST00000556592.1_5'Flank	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	432					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGATGCCACTGTGGCAACAGC	0.562																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(1294-1296)aCa>aTa		tetratricopeptide repeat domain 5							89.0	67.0	74.0					14																	20757814		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20757814G>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1295C>T	14.37:g.20757814G>A	ENSP00000258821:p.Thr432Ile						p.T432I	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	10	1351	-	all_cancers(95;0.00092)		432					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.1295C>T	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	G	4.177	0.031436	0.08101	.	.	ENSG00000136319	ENST00000258821	T	0.32023	1.47	5.29	3.48	0.39840	.	0.335009	0.32372	N	0.006195	T	0.12603	0.0306	N	0.04508	-0.205	0.29270	N	0.87075	B	0.06786	0.001	B	0.04013	0.001	T	0.21449	-1.0245	10	0.15066	T	0.55	.	9.0383	0.36302	0.1705:0.0:0.8295:0.0	.	432	Q8N0Z6	TTC5_HUMAN	I	432	ENSP00000258821:T432I	ENSP00000258821:T432I	T	-	2	0	TTC5	19827654	0.967000	0.33354	0.942000	0.38095	0.112000	0.19704	1.590000	0.36654	0.822000	0.34565	-0.142000	0.14014	ACA		0.562	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		3	24	0	0	0	1	0	3	24				
MRGPRX4	117196	broad.mit.edu	37	11	18195332	18195332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18195332G>T	ENST00000314254.3	+	1	949	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAACGTCAGATTTCATCCC	0.517																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(529-531)Gat>Tat		MAS-related GPR, member X4							248.0	233.0	238.0					11																	18195332		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195332G>T	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.529G>T	11.37:g.18195332G>T	ENSP00000314042:p.Asp177Tyr					RP11-113D6.6_ENST00000527671.1_Intron	p.D177Y	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	949	+			177					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.529G>T	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	6.248	0.413892	0.11870	.	.	ENSG00000179817	ENST00000314254	T	0.71341	-0.56	2.85	-5.7	0.02421	GPCR, rhodopsin-like superfamily (1);	1.063870	0.07282	N	0.870938	T	0.71542	0.3352	L	0.60957	1.885	0.09310	N	1	P	0.49447	0.924	P	0.59761	0.863	T	0.66035	-0.6023	10	0.87932	D	0	.	0.1929	0.00136	0.3257:0.252:0.1692:0.2531	.	177	Q96LA9	MRGX4_HUMAN	Y	177	ENSP00000314042:D177Y	ENSP00000314042:D177Y	D	+	1	0	MRGPRX4	18151908	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.831000	0.00096	-3.229000	0.00210	-3.592000	0.00028	GAT		0.517	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		12	178	1	0	1.5842e-08	1	1.90059e-08	12	178				
MKI67	4288	broad.mit.edu	37	10	129906300	129906300	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906300T>C	ENST00000368654.3	-	13	4179	c.3804A>G	c.(3802-3804)cgA>cgG	p.R1268R	MKI67_ENST00000368653.3_Silent_p.R908R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1268	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTCTTGGGTCGTTGCTTTG	0.502																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3802-3804)cgA>cgG		marker of proliferation Ki-67							217.0	209.0	212.0					10																	129906300		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906300T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3804A>G	10.37:g.129906300T>C						MKI67_ENST00000368653.3_Silent_p.R908R	p.R1268R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4179	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1268			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.3804A>G	CCDS7659.1																																																																																				0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		18	161	0	0	0	1	0	18	161				
PML	5371	broad.mit.edu	37	15	74337240	74337240	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74337240G>T	ENST00000268058.3	+	9	2636	c.2540G>T	c.(2539-2541)gGc>gTc	p.G847V	PML_ENST00000565898.1_Missense_Mutation_p.G799V	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	847					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGCTCTGGGCACCTACTTT	0.652			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(2395-2397)gGc>gTc		promyelocytic leukemia							45.0	49.0	48.0					15																	74337240		2198	4293	6491	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74337240G>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2540G>T	15.37:g.74337240G>T	ENSP00000268058:p.Gly847Val					PML_ENST00000268058.3_Missense_Mutation_p.G847V	p.G799V			P29590	PML_HUMAN			8	2480	+			847					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.2396G>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827886	0.16749	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.43688	0.94	4.43	0.297	0.15762	.	2.183290	0.01717	N	0.028084	T	0.27169	0.0666	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.21360	0.015;0.034	T	0.16630	-1.0396	10	0.38643	T	0.18	-3.7752	4.2166	0.10537	0.302:0.1719:0.5261:0.0	.	847;799	P29590;P29590-11	PML_HUMAN;.	V	847;408;830	ENSP00000268058:G847V	ENSP00000268058:G847V	G	+	2	0	PML	72124293	0.005000	0.15991	0.000000	0.03702	0.004000	0.04260	1.495000	0.35627	0.144000	0.18951	-0.257000	0.10917	GGC		0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		22	50	1	0	3.28513e-13	1	4.1605e-13	22	50				
RALGAPB	57148	broad.mit.edu	37	20	37117086	37117086	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37117086A>G	ENST00000262879.6	+	2	295	c.11A>G	c.(10-12)gAg>gGg	p.E4G	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E4G|RALGAPB_ENST00000537204.1_Missense_Mutation_p.E4G|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E4G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	4					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTACTCTGAGTGGAGGTCA	0.418																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(10-12)gAg>gGg		Ral GTPase activating protein, beta subunit (non-catalytic)							177.0	156.0	163.0					20																	37117086		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37117086A>G	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.11A>G	20.37:g.37117086A>G	ENSP00000262879:p.Glu4Gly					RALGAPB_ENST00000537204.1_Missense_Mutation_p.E4G|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E4G|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E4G	p.E4G			Q86X10	RLGPB_HUMAN			2	295	+			4					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.11A>G	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.961320	0.92791	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	M	0.64567	1.98	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	T	0.78008	-0.2372	9	0.54805	T	0.06	.	15.6184	0.76787	1.0:0.0:0.0:0.0	.	4;4;4;4	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	G	4	.	ENSP00000262879:E4G	E	+	2	0	RALGAPB	36550500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.234000	0.95347	2.143000	0.66587	0.519000	0.50382	GAG		0.418	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		13	79	0	0	0	1	0	13	79				
KCNMB4	27345	broad.mit.edu	37	12	70824314	70824314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70824314C>T	ENST00000258111.4	+	3	973	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	172					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	TGTCCTCCTGCATTGCTTCCT	0.517																																						ENST00000258111.4																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.(514-516)Cat>Tat		potassium large conductance calcium-activated channel, subfamily M, beta member 4							197.0	182.0	187.0					12																	70824314		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70824314C>T	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.514C>T	12.37:g.70824314C>T	ENSP00000258111:p.His172Tyr						p.H172Y	NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	973	+	Renal(347;0.236)		172					Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.514C>T	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781791	0.90282	.	.	ENSG00000135643	ENST00000258111	T	0.11385	2.78	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	M	0.72118	2.19	0.58432	D	0.999998	D	0.62365	0.991	D	0.76575	0.988	T	0.01956	-1.1240	10	0.87932	D	0	-12.1155	20.1653	0.98150	0.0:1.0:0.0:0.0	.	172	Q86W47	KCMB4_HUMAN	Y	172	ENSP00000258111:H172Y	ENSP00000258111:H172Y	H	+	1	0	KCNMB4	69110581	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.580000	0.74040	2.768000	0.95171	0.655000	0.94253	CAT		0.517	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		58	87	0	0	0	1	0	58	87				
MIA3	375056	broad.mit.edu	37	1	222838834	222838834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838834G>A	ENST00000344922.5	+	28	5622	c.5597G>A	c.(5596-5598)gGt>gAt	p.G1866D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.G1866D|MIA3_ENST00000340535.7_Missense_Mutation_p.G744D|AIDA_ENST00000474863.1_5'Flank	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1866	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCAACCCATGGTCCCCAGGAA	0.537																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5596-5598)gGt>gAt		melanoma inhibitory activity family, member 3							193.0	194.0	193.0					1																	222838834		1880	4112	5992	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838834G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5597G>A	1.37:g.222838834G>A	ENSP00000340900:p.Gly1866Asp					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.G744D|MIA3_ENST00000344441.6_Missense_Mutation_p.G1866D	p.G1866D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5622	+			1866			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.5597G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313213	0.60414	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.38401	1.14;1.14;2.82	5.56	4.65	0.58169	.	.	.	.	.	T	0.51719	0.1691	M	0.64997	1.995	0.09310	N	0.99999	D;D	0.76494	0.999;0.983	D;P	0.66602	0.945;0.713	T	0.42932	-0.9422	9	0.16896	T	0.51	.	12.1625	0.54110	0.0:0.1299:0.7353:0.1348	.	744;1866	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	D	1866;1866;1807;744;744	ENSP00000340900:G1866D;ENSP00000340587:G1866D;ENSP00000345866:G744D	ENSP00000284471:G744D	G	+	2	0	MIA3	220905457	0.990000	0.36364	0.021000	0.16686	0.900000	0.52787	3.243000	0.51392	1.347000	0.45714	-0.152000	0.13540	GGT		0.537	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		17	286	0	0	0	1	0	17	286				
SH3D19	152503	broad.mit.edu	37	4	152048841	152048841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152048841C>T	ENST00000409252.2	-	19	2892	c.2185G>A	c.(2185-2187)Gta>Ata	p.V729I	SH3D19_ENST00000427414.2_Missense_Mutation_p.V670I|SH3D19_ENST00000514152.1_Missense_Mutation_p.V706I|SH3D19_ENST00000424281.1_Missense_Mutation_p.V670I|SH3D19_ENST00000455740.1_Missense_Mutation_p.V706I|SH3D19_ENST00000409598.4_Missense_Mutation_p.V706I|SH3D19_ENST00000304527.4_Missense_Mutation_p.V729I			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	729					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCTTCGGTACTATGGCCAAC	0.358																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(2116-2118)Gta>Ata		SH3 domain containing 19							75.0	67.0	70.0					4																	152048841		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152048841C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2185G>A	4.37:g.152048841C>T	ENSP00000386848:p.Val729Ile					SH3D19_ENST00000427414.2_Missense_Mutation_p.V670I|SH3D19_ENST00000455740.1_Missense_Mutation_p.V706I|SH3D19_ENST00000514152.1_Missense_Mutation_p.V706I|SH3D19_ENST00000424281.1_Missense_Mutation_p.V670I|SH3D19_ENST00000304527.4_Missense_Mutation_p.V729I|SH3D19_ENST00000409252.2_Missense_Mutation_p.V729I	p.V706I			Q5HYK7	SH319_HUMAN			19	3283	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	729			SH3 4.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.2116G>A	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754626	0.31046	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.84	-1.51	0.08664	Src homology-3 domain (1);	2.107390	0.01930	N	0.041152	T	0.17152	0.0412	N	0.11427	0.14	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.0	T	0.15752	-1.0426	10	0.35671	T	0.21	0.1242	5.8468	0.18671	0.4365:0.3884:0.0:0.1752	.	729;706;670;484	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	I	706;729;706;670;670;729;706	ENSP00000387030:V706I;ENSP00000302913:V729I;ENSP00000416708:V706I;ENSP00000404542:V670I;ENSP00000415694:V670I;ENSP00000386848:V729I;ENSP00000423449:V706I	ENSP00000302913:V729I	V	-	1	0	SH3D19	152268291	.	.	0.000000	0.03702	0.016000	0.09150	.	.	-0.747000	0.04759	-0.216000	0.12614	GTA		0.358	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		17	17	0	0	0	1	0	17	17				
ZZZ3	26009	broad.mit.edu	37	1	78045282	78045282	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78045282G>T	ENST00000370801.3	-	10	2487	c.2012C>A	c.(2011-2013)cCt>cAt	p.P671H	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.P177H	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	671	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAGGAGGGTATTTGAT	0.373																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2011-2013)cCt>cAt		zinc finger, ZZ-type containing 3							183.0	178.0	180.0					1																	78045282		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78045282G>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2012C>A	1.37:g.78045282G>T	ENSP00000359837:p.Pro671His					ZZZ3_ENST00000370798.1_Missense_Mutation_p.P177H|ZZZ3_ENST00000476275.1_5'UTR	p.P671H	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			10	2487	-			671			HTH myb-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2012C>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669540	0.88348	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.44881	0.91;0.91	5.43	5.43	0.79202	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.055640	0.64402	D	0.000001	T	0.69797	0.3151	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.76626	-0.2890	10	0.87932	D	0	.	19.6396	0.95753	0.0:0.0:1.0:0.0	.	177;671;670	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	H	671;177	ENSP00000359837:P671H;ENSP00000359834:P177H	ENSP00000359834:P177H	P	-	2	0	ZZZ3	77817870	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.278000	0.95766	2.718000	0.92993	0.650000	0.86243	CCT		0.373	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		30	183	1	0	5.60225e-13	1	7.08299e-13	30	183				
RUNX1	861	broad.mit.edu	37	21	36228737	36228737	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36228737C>T	ENST00000344691.4	-	3	2110				RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000486278.2_Silent_p.L183L|RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000437180.1_Intron|RUNX1_ENST00000399240.1_Intron	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1						behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						gaggccaggtcaaagagTCTA	0.398			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000486278.2				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""		"""AML, preB- ALL, T-ALL"""		0				breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(547-549)ttG>ttA		runt-related transcription factor 1							93.0	88.0	90.0					21																	36228737		876	1991	2867	SO:0001627	intron_variant	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36228737C>T	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.532+3033G>A	21.37:g.36228737C>T						RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000344691.4_Intron|RUNX1_ENST00000437180.1_Intron	p.L183L			Q01196	RUNX1_HUMAN			7	764	-			353					A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	c.549G>A	CCDS42922.1																																																																																				0.398	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			9	38	0	0	0	1	0	9	38				
NPHP1	4867	broad.mit.edu	37	2	110907762	110907762	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110907762G>T	ENST00000393272.3	-	12	1417	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	NPHP1_ENST00000417665.1_Silent_p.P384P|NPHP1_ENST00000316534.4_Silent_p.P441P|NPHP1_ENST00000445609.2_Silent_p.P385P|NPHP1_ENST00000355301.4_Silent_p.P322P	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	440					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACTTACCTGGGGAGAAAAGG	0.373																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(1321-1323)ccC>ccA		nephronophthisis 1 (juvenile)							185.0	176.0	179.0					2																	110907762		2203	4300	6503	SO:0001819	synonymous_variant	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110907762G>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1320C>A	2.37:g.110907762G>T						NPHP1_ENST00000393272.3_Silent_p.P440P|NPHP1_ENST00000417665.1_Silent_p.P384P|NPHP1_ENST00000355301.4_Silent_p.P322P|NPHP1_ENST00000445609.2_Silent_p.P385P	p.P441P			O15259	NPHP1_HUMAN			12	1396	-			440					O14837	Silent	SNP	ENST00000393272.3	37	c.1323C>A	CCDS46385.1																																																																																				0.373	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		33	71	1	0	2.80507e-11	1	3.49135e-11	33	71				
PHC3	80012	broad.mit.edu	37	3	169863241	169863241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863241C>T	ENST00000494943.1	-	6	674	c.606G>A	c.(604-606)tcG>tcA	p.S202S	PHC3_ENST00000467570.1_Silent_p.S161S|PHC3_ENST00000495893.2_Silent_p.S214S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	202	Ser-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGGAAGATGACGATGACGACG	0.438																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(604-606)tcG>tcA		polyhomeotic homolog 3 (Drosophila)							103.0	107.0	105.0					3																	169863241		2050	4204	6254	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169863241C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.606G>A	3.37:g.169863241C>T						PHC3_ENST00000467570.1_Silent_p.S161S|PHC3_ENST00000495893.1_Silent_p.S214S	p.S202S			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		6	674	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		202			Ser-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.606G>A																																																																																					0.438	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		10	19	0	0	0	1	0	10	19				
SEC24D	9871	broad.mit.edu	37	4	119745835	119745835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119745835G>T	ENST00000280551.6	-	3	426	c.188C>A	c.(187-189)cCt>cAt	p.P63H	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.P63H			O94855	SC24D_HUMAN	SEC24 family member D	63	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGGTCCAGGAGGTGGGGGACC	0.552																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(187-189)cCt>cAt		SEC24 family member D							107.0	117.0	114.0					4																	119745835		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119745835G>T	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.188C>A	4.37:g.119745835G>T	ENSP00000280551:p.Pro63His					SEC24D_ENST00000280551.6_Missense_Mutation_p.P63H|SEC24D_ENST00000419654.2_5'UTR	p.P63H	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			3	459	-			63			Pro-rich.		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.188C>A	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727042	0.30593	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000503683	T;T;T	0.77358	-1.09;-1.08;0.73	5.39	3.47	0.39725	.	0.372576	0.26734	N	0.022769	T	0.70290	0.3207	L	0.27053	0.805	0.80722	D	1	D;D	0.56287	0.975;0.957	P;B	0.50617	0.646;0.444	T	0.70799	-0.4774	10	0.59425	D	0.04	-10.3758	7.4052	0.26987	0.0953:0.0:0.7271:0.1776	.	63;63	O94855-2;O94855	.;SC24D_HUMAN	H	63	ENSP00000280551:P63H;ENSP00000369059:P63H;ENSP00000426309:P63H	ENSP00000280551:P63H	P	-	2	0	SEC24D	119965283	1.000000	0.71417	0.998000	0.56505	0.016000	0.09150	2.444000	0.44890	1.268000	0.44264	0.557000	0.71058	CCT		0.552	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			6	146	1	0	0.00116845	1	0.00124821	6	146				
TFIP11	24144	broad.mit.edu	37	22	26890245	26890245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26890245C>T	ENST00000407690.1	-	14	2301	c.2018G>A	c.(2017-2019)aGc>aAc	p.S673N	TFIP11_ENST00000407148.1_Missense_Mutation_p.S673N|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000405938.1_Missense_Mutation_p.S673N|TFIP11_ENST00000407431.1_Missense_Mutation_p.S673N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	673					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAATTTGGGCTGTTACTGAG	0.443																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(2017-2019)aGc>aAc		tuftelin interacting protein 11							110.0	96.0	100.0					22																	26890245		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890245C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2018G>A	22.37:g.26890245C>T	ENSP00000384421:p.Ser673Asn					TFIP11_ENST00000407148.1_Missense_Mutation_p.S673N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S673N|TFIP11_ENST00000407431.1_Missense_Mutation_p.S673N	p.S673N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			14	2301	-			673					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2018G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353240	0.41700	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.54	5.54	0.83059	.	0.112768	0.85682	D	0.000000	T	0.28599	0.0708	N	0.12961	0.28	0.49130	D	0.999754	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.003	T	0.11690	-1.0577	10	0.13853	T	0.58	-31.777	11.9856	0.53145	0.0:0.9223:0.0:0.0777	.	673;32	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	N	673;673;673;358;673	ENSP00000384421:S673N;ENSP00000383892:S673N;ENSP00000385861:S673N;ENSP00000384297:S673N	ENSP00000384297:S673N	S	-	2	0	TFIP11	25220245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.423000	0.52756	2.884000	0.98904	0.655000	0.94253	AGC		0.443	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		25	36	0	0	0	1	0	25	36				
PTBP3	9991	broad.mit.edu	37	9	114997178	114997178	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114997178C>A	ENST00000374255.2	-	9	1034		c.e9-1		PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000334318.6_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site|PTBP3_ENST00000374257.1_Splice_Site			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCCGGTGCACCTAATGGGAAA	0.378																																						ENST00000334318.6																			0											c.e9-1		polypyrimidine tract binding protein 3							61.0	59.0	60.0					9																	114997178		2203	4300	6503	SO:0001630	splice_region_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:114997178C>A	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.887-1G>T	9.37:g.114997178C>A						PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site|PTBP3_ENST00000374255.2_Splice_Site		NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN			9	1082	-								B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Splice_Site	SNP	ENST00000374255.2	37		CCDS6784.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723987	0.68959	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	.	.	.	4.63	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3253	0.66515	0.1497:0.8503:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROD1	114036999	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	6.132000	0.71676	1.254000	0.44035	0.655000	0.94253	.		0.378	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		Intron	13	20	1	0	0.00244969	1	0.00259885	13	20				
OR52W1	120787	broad.mit.edu	37	11	6221156	6221156	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221156A>G	ENST00000311352.2	+	1	781	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTACCTACCCGGGAGGC	0.517																																						ENST00000311352.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(703-705)Acc>Gcc		olfactory receptor, family 52, subfamily W, member 1							256.0	213.0	228.0					11																	6221156		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221156A>G	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.703A>G	11.37:g.6221156A>G	ENSP00000309673:p.Thr235Ala						p.T235A	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	781	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	235					Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.703A>G	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	A	6.173	0.400026	0.11696	.	.	ENSG00000175485	ENST00000311352	T	0.00084	8.75	4.59	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	N	0.001278	T	0.00073	0.0002	N	0.16130	0.375	0.09310	N	1	P	0.34934	0.476	B	0.36378	0.223	T	0.17228	-1.0376	10	0.72032	D	0.01	.	3.1335	0.06431	0.549:0.0:0.1752:0.2758	.	235	Q6IF63	O52W1_HUMAN	A	235	ENSP00000309673:T235A	ENSP00000309673:T235A	T	+	1	0	OR52W1	6177732	0.000000	0.05858	0.124000	0.21820	0.232000	0.25224	0.070000	0.14573	0.835000	0.34877	0.460000	0.39030	ACC		0.517	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		19	193	0	0	0	1	0	19	193				
HYDIN	54768	broad.mit.edu	37	16	70972621	70972621	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70972621C>T	ENST00000393567.2	-	44	7041	c.6891G>A	c.(6889-6891)gaG>gaA	p.E2297E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2297					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGAGACGCTCCTTCTCTT	0.532																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(6889-6891)gaG>gaA		HYDIN, axonemal central pair apparatus protein							114.0	101.0	106.0					16																	70972621		1940	4153	6093	SO:0001819	synonymous_variant	54768							g.chr16:70972621C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6891G>A	16.37:g.70972621C>T							p.E2297E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			44	7041	-		Ovarian(137;0.0654)	2297					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.6891G>A	CCDS59269.1																																																																																				0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			12	23	0	0	0	1	0	12	23				
KIAA1217	56243	broad.mit.edu	37	10	24833163	24833163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24833163C>T	ENST00000376454.3	+	19	4994	c.4964C>T	c.(4963-4965)aCt>aTt	p.T1655I	KIAA1217_ENST00000376451.2_Missense_Mutation_p.T1338I|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1655					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATTTCAAGAACTGATGAAATT	0.453																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(4012-4014)aCt>aTt		KIAA1217							102.0	98.0	100.0					10																	24833163		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24833163C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4964C>T	10.37:g.24833163C>T	ENSP00000365637:p.Thr1655Ile					KIAA1217_ENST00000376454.3_Missense_Mutation_p.T1655I|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron	p.T1338I			Q5T5P2	SKT_HUMAN			14	4273	+			1655					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.4013C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282551	0.80692	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000376451	T;T	0.38240	1.59;1.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63980	-0.6514	10	0.72032	D	0.01	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	1338;1338;1655	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	I	1338;1655;1338	ENSP00000365637:T1655I;ENSP00000365634:T1338I	ENSP00000365634:T1338I	T	+	2	0	KIAA1217	24873169	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.677000	0.68142	2.437000	0.82529	0.655000	0.94253	ACT		0.453	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		24	47	0	0	0	1	0	24	47				
CABIN1	23523	broad.mit.edu	37	22	24458474	24458474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24458474G>A	ENST00000398319.2	+	13	2067	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	CABIN1_ENST00000405822.2_Missense_Mutation_p.G511D|CABIN1_ENST00000263119.5_Missense_Mutation_p.G561D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	561					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGACCAAAGGCAGAAGCTCT	0.542																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1681-1683)gGc>gAc		calcineurin binding protein 1							88.0	75.0	79.0					22																	24458474		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24458474G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1682G>A	22.37:g.24458474G>A	ENSP00000381364:p.Gly561Asp					CABIN1_ENST00000405822.2_Missense_Mutation_p.G511D|CABIN1_ENST00000263119.5_Missense_Mutation_p.G561D	p.G561D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			13	2067	+			561					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1682G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013803	0.75161	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.73469	-0.75;-0.75;-0.75	5.22	5.22	0.72569	.	0.111738	0.64402	D	0.000009	T	0.81182	0.4769	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.95	T	0.79080	-0.1950	10	0.36615	T	0.2	.	13.2203	0.59883	0.0:0.0:0.8411:0.1589	.	511;561	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	D	561;511;561	ENSP00000263119:G561D;ENSP00000384694:G511D;ENSP00000381364:G561D	ENSP00000263119:G561D	G	+	2	0	CABIN1	22788474	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.981000	0.76166	2.619000	0.88677	0.650000	0.86243	GGC		0.542	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		13	25	0	0	0	1	0	13	25				
SPAG17	200162	broad.mit.edu	37	1	118514577	118514577	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118514577G>T	ENST00000336338.5	-	45	6300	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2079						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGATGGGAGAAGATGGAAC	0.448																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(6235-6237)Ctc>Atc		sperm associated antigen 17							157.0	138.0	144.0					1																	118514577		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118514577G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6235C>A	1.37:g.118514577G>T	ENSP00000337804:p.Leu2079Ile					SPAG17_ENST00000492438.1_5'UTR	p.L2079I	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	45	6300	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	2079					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.6235C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	8.296	0.818730	0.16607	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T;T	0.18810	2.19;2.69	5.46	4.56	0.56223	.	0.252757	0.33253	N	0.005113	T	0.12774	0.0310	L	0.59436	1.845	0.22581	N	0.998964	P	0.51537	0.946	P	0.48677	0.586	T	0.08126	-1.0737	10	0.25106	T	0.35	.	9.2454	0.37523	0.0:0.159:0.6757:0.1652	.	2079	Q6Q759	SPG17_HUMAN	I	2079;559	ENSP00000337804:L2079I;ENSP00000402749:L559I	ENSP00000337804:L2079I	L	-	1	0	SPAG17	118316100	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	1.165000	0.31822	1.552000	0.49463	-0.127000	0.14921	CTC		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		27	31	1	0	2.44723e-14	1	3.12147e-14	27	31				
DLGAP1	9229	broad.mit.edu	37	18	3582061	3582061	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3582061G>T	ENST00000315677.3	-	8	2372	c.1777C>A	c.(1777-1779)Ctg>Atg	p.L593M	DLGAP1_ENST00000400147.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.L593M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.L301M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.L283M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.L309M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.L277M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	593					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATACTGTCCAGGCTCTCGGTG	0.577																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(1777-1779)Ctg>Atg		discs, large (Drosophila) homolog-associated protein 1							119.0	102.0	108.0					18																	3582061		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3582061G>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1777C>A	18.37:g.3582061G>T	ENSP00000316377:p.Leu593Met					DLGAP1_ENST00000400145.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.L283M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.L593M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.L301M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.L277M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.L309M	p.L593M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			8	2372	-		Colorectal(8;0.0257)	593					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1777C>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479644	0.63849	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.33654	1.89;1.79;1.79;1.86;1.8;1.81;1.79;1.4;1.86	5.53	4.55	0.56014	.	0.089342	0.52532	D	0.000073	T	0.55321	0.1913	M	0.72894	2.215	0.37969	D	0.933239	P;D;D;P;D;D;D;D	0.89917	0.933;0.966;1.0;0.933;1.0;0.96;0.991;0.995	P;P;D;P;D;P;D;D	0.76575	0.564;0.564;0.972;0.564;0.972;0.748;0.972;0.988	T	0.62048	-0.6936	10	0.87932	D	0	-15.4603	9.5671	0.39405	0.1842:0.0:0.8158:0.0	.	593;277;289;299;301;291;593;291	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	M	593;291;309;283;299;277;301;291;593	ENSP00000316377:L593M;ENSP00000383011:L291M;ENSP00000383014:L309M;ENSP00000383013:L283M;ENSP00000383019:L299M;ENSP00000437817:L277M;ENSP00000446312:L301M;ENSP00000383010:L291M;ENSP00000445973:L593M	ENSP00000316377:L593M	L	-	1	2	DLGAP1	3572061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.960000	0.56752	2.599000	0.87857	0.563000	0.77884	CTG		0.577	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			31	26	1	0	1.39806e-14	1	1.78606e-14	31	26				
PER3	8863	broad.mit.edu	37	1	7887365	7887365	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887365C>A	ENST00000361923.2	+	17	2527	c.2352C>A	c.(2350-2352)acC>acA	p.T784T	PER3_ENST00000377532.3_Silent_p.T792T|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	784	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGCCCGACCTTCCCACCTG	0.701																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2374-2376)acC>acA		period circadian clock 3							42.0	46.0	44.0					1																	7887365		2203	4298	6501	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887365C>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2352C>A	1.37:g.7887365C>A						PER3_ENST00000361923.2_Silent_p.T784T|RP3-467L1.4_ENST00000451646.1_RNA	p.T792T			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2600	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	784			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.2376C>A	CCDS89.1																																																																																				0.701	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		11	21	1	0	0.00244969	1	0.00259885	11	21				
ALG5	29880	broad.mit.edu	37	13	37569720	37569720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37569720G>A	ENST00000239891.3	-	2	146	c.80C>T	c.(79-81)gCa>gTa	p.A27V	ALG5_ENST00000443765.1_Missense_Mutation_p.A27V|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Missense_Mutation_p.A27V	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	27					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGTTGTAAATGCAACGATGGA	0.343																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(79-81)gCa>gTa		ALG5, dolichyl-phosphate beta-glucosyltransferase							103.0	101.0	102.0					13																	37569720		2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37569720G>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.80C>T	13.37:g.37569720G>A	ENSP00000239891:p.Ala27Val					ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Missense_Mutation_p.A27V|ALG5_ENST00000413537.2_Missense_Mutation_p.A27V	p.A27V	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	2	146	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	27					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.80C>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014570	0.19355	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.82526	-1.62;-1.04	6.17	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	L	0.55743	1.74	0.54753	D	0.999986	B;B	0.15719	0.012;0.014	B;B	0.18561	0.022;0.018	T	0.71411	-0.4601	10	0.16420	T	0.52	.	15.6661	0.77230	0.0669:0.0:0.933:0.0	.	27;27	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	V	27	ENSP00000239891:A27V;ENSP00000389647:A27V	ENSP00000239891:A27V	A	-	2	0	ALG5	36467720	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	5.932000	0.70121	2.941000	0.99782	0.655000	0.94253	GCA		0.343	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		14	38	0	0	0	1	0	14	38				
PDCD1LG2	80380	broad.mit.edu	37	9	5534981	5534981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534981G>A	ENST00000397747.3	+	3	540	c.292G>A	c.(292-294)Gga>Aga	p.G98R	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.G98R	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	98	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GAGGGACGAAGGACAGTACCA	0.517																																						ENST00000397747.3																			0				large_intestine(2)|lung(4)|prostate(2)	8						c.(292-294)Gga>Aga		programmed cell death 1 ligand 2							92.0	80.0	84.0					9																	5534981		2203	4300	6503	SO:0001583	missense	80380				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5534981G>A	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.292G>A	9.37:g.5534981G>A	ENSP00000380855:p.Gly98Arg					PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.G98R	p.G98R	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	3	540	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	98			Ig-like V-type.		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	ENST00000397747.3	37	c.292G>A	CCDS6465.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759154	0.69763	.	.	ENSG00000197646	ENST00000397745;ENST00000397747	T;T	0.14391	2.51;2.51	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.45856	0.1363	M	0.89968	3.075	0.25761	N	0.984949	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0	T	0.50268	-0.8848	10	0.87932	D	0	-3.3308	15.4059	0.74877	0.0:0.0:1.0:0.0	.	87;98;98;98;98	Q2LC89;A4GW21;Q9BQ51-3;Q9BQ51-2;Q9BQ51	.;.;.;.;PD1L2_HUMAN	R	98	ENSP00000380853:G98R;ENSP00000380855:G98R	ENSP00000380853:G98R	G	+	1	0	PDCD1LG2	5524981	0.995000	0.38212	0.048000	0.18961	0.842000	0.47809	3.792000	0.55476	2.716000	0.92895	0.561000	0.74099	GGA		0.517	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		11	25	0	0	0	1	0	11	25				
LYRM5	144363	broad.mit.edu	37	12	25357176	25357176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25357176C>T	ENST00000381356.4	+	3	362	c.203C>T	c.(202-204)gCt>gTt	p.A68V	LYRM5_ENST00000556351.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556885.1_Missense_Mutation_p.A66V|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000557540.2_Missense_Mutation_p.A66V|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556927.1_Missense_Mutation_p.A66V	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	68						mitochondrion (GO:0005739)				large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			GAGCTAGAAGCTTTGTACTTC	0.333																																						ENST00000557540.2																			0				large_intestine(3)	3						c.(196-198)gCt>gTt		LYR motif containing 5							59.0	58.0	58.0					12																	25357176		1834	4087	5921	SO:0001583	missense	144363							g.chr12:25357176C>T	AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"""LYR motif containing"""	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.203C>T	12.37:g.25357176C>T	ENSP00000370761:p.Ala68Val					LYRM5_ENST00000556885.1_Missense_Mutation_p.A66V|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556927.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556351.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000381356.4_Missense_Mutation_p.A68V	p.A66V			Q6IPR1	LYRM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)		3	366	+	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		66					J3KPI7	Missense_Mutation	SNP	ENST00000381356.4	37	c.197C>T	CCDS53764.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499883	0.96355	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	.	.	.	0.80722	D	1	D	0.55172	0.97	P	0.49683	0.619	T	0.33574	-0.9863	9	0.62326	D	0.03	.	19.5548	0.95338	0.0:1.0:0.0:0.0	.	66	Q6IPR1	LYRM5_HUMAN	V	66;68;66;66;66	ENSP00000450584:A66V;ENSP00000370761:A68V;ENSP00000451494:A66V;ENSP00000452146:A66V;ENSP00000450443:A66V	ENSP00000370761:A68V	A	+	2	0	LYRM5	25248443	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.422000	0.80217	2.854000	0.98071	0.655000	0.94253	GCT		0.333	LYRM5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001001660		7	62	0	0	0	1	0	7	62				
ITGA2	3673	broad.mit.edu	37	5	52337985	52337985	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52337985A>G	ENST00000296585.5	+	3	372	c.229A>G	c.(229-231)Atg>Gtg	p.M77V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	77					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAGAACCGAATGGGAGATGT	0.353																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(229-231)Atg>Gtg		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							142.0	134.0	137.0					5																	52337985		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52337985A>G		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.229A>G	5.37:g.52337985A>G	ENSP00000296585:p.Met77Val						p.M77V	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			3	372	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	77					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.229A>G	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.956557	0.53293	.	.	ENSG00000164171	ENST00000296585	D	0.91945	-2.94	5.55	5.55	0.83447	.	0.101743	0.64402	D	0.000003	D	0.88948	0.6576	L	0.53249	1.67	0.38199	D	0.940142	B;P	0.36990	0.215;0.577	B;B	0.30316	0.101;0.114	D	0.90775	0.4675	10	0.72032	D	0.01	.	14.6771	0.68989	1.0:0.0:0.0:0.0	.	77;77	E7ESP4;P17301	.;ITA2_HUMAN	V	77	ENSP00000296585:M77V	ENSP00000296585:M77V	M	+	1	0	ITGA2	52373742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.106000	0.77039	2.094000	0.63399	0.533000	0.62120	ATG		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		34	65	0	0	0	1	0	34	65				
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(202-204)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							80.0	61.0	67.0					8																	134488066		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488066G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.202C>T	8.37:g.134488066G>A	ENSP00000318445:p.Arg68Cys					ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C	p.R68C			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1229	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		68					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.202C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259953	0.23051	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.55	3.52	0.40303	.	1.119980	0.06488	N	0.734078	T	0.15565	0.0375	N	0.08118	0	0.23325	N	0.997901	P	0.44659	0.84	B	0.42522	0.39	T	0.36866	-0.9730	10	0.54805	T	0.06	-16.4776	12.5723	0.56344	0.0:0.1221:0.7442:0.1337	.	68	Q11201	SIA4A_HUMAN	C	68	ENSP00000318445:R68C;ENSP00000414073:R68C;ENSP00000428540:R68C;ENSP00000430515:R68C	ENSP00000318445:R68C	R	-	1	0	ST3GAL1	134557248	0.833000	0.29383	0.058000	0.19502	0.082000	0.17680	1.527000	0.35975	1.320000	0.45209	0.561000	0.74099	CGC		0.612	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		11	12	0	0	0	1	0	11	12				
ALDH1L1	10840	broad.mit.edu	37	3	125872275	125872275	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125872275C>T	ENST00000393434.2	-	7	1208				ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000455064.2_Silent_p.R115R|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000413612.1_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACCCACAGCCGTGCCCTTA	0.562																																						ENST00000455064.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(343-345)cgG>cgA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						89.0	87.0	87.0					3																	125872275		2203	4300	6503	SO:0001627	intron_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125872275C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.858+11G>A	3.37:g.125872275C>T						ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000393434.2_Intron	p.R115R			O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	6	768	-			0			GART.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.345G>A	CCDS3034.1																																																																																				0.562	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		4	41	0	0	0	1	0	4	41				
WBP11P1	441818	broad.mit.edu	37	18	30092242	30092242	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30092242C>T	ENST00000567636.1	+	0	617					NR_003558.1				WW domain binding protein 11 pseudogene 1																		ACCAGATATGCCACATGCTTC	0.463																																						ENST00000567636.1																			0																																																			0							g.chr18:30092242C>T	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092242C>T								NR_003558.1						0	617	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.463	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			5	8	0	0	0	1	0	5	8				
CASP1	834	broad.mit.edu	37	11	104897599	104897599	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897599A>G	ENST00000533400.1	-	8	1121	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C	CASP1_ENST00000353247.5_Silent_p.C46C|CASP1_ENST00000415981.2_Silent_p.C46C|CASP1_ENST00000393136.4_Silent_p.C341C|CASP1_ENST00000534497.1_Silent_p.C221C|CASP1_ENST00000527979.1_Silent_p.C325C|CASP1_ENST00000526568.1_Silent_p.C269C|CASP1_ENST00000525825.1_Silent_p.C341C|CASP1_ENST00000598974.1_Silent_p.C362C|CASP1_ENST00000593315.1_Silent_p.C341C|CASP1_ENST00000446369.1_Silent_p.C221C|CASP1_ENST00000531166.1_Silent_p.C46C|CASP1_ENST00000436863.3_Silent_p.C362C|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000594519.1_Silent_p.C221C	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	362					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CATCACAGGAACAGGCATATT	0.398																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1084-1086)tgT>tgC		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						119.0	108.0	112.0					11																	104897599		2202	4299	6501	SO:0001819	synonymous_variant	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897599A>G	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1086T>C	11.37:g.104897599A>G						CASP1_ENST00000531166.1_Silent_p.C46C|CASP1_ENST00000598974.1_Silent_p.C362C|CASP1_ENST00000393136.4_Silent_p.C341C|CASP1_ENST00000525825.1_Silent_p.C341C|CASP1_ENST00000534497.1_Silent_p.C221C|CASP1_ENST00000594519.1_Silent_p.C221C|CASP1_ENST00000353247.5_Silent_p.C46C|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000527979.1_Silent_p.C325C|CASP1_ENST00000593315.1_Silent_p.C341C|CASP1_ENST00000446369.1_Silent_p.C221C|CASP1_ENST00000526568.1_Silent_p.C269C|CASP1_ENST00000415981.2_Silent_p.C46C|CASP1_ENST00000436863.3_Silent_p.C362C	p.C362C	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	8	1121	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	362					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	ENST00000533400.1	37	c.1086T>C	CCDS8330.1																																																																																				0.398	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		17	74	0	0	0	1	0	17	74				
KRIT1	889	broad.mit.edu	37	7	91852280	91852280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91852280G>A	ENST00000340022.2	-	13	2285	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R375*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R423*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	423	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGTATATTCGAACTTTTTCA	0.343																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	GRCh37	CM022620	KRIT1	M		c.(1267-1269)Cga>Tga		KRIT1, ankyrin repeat containing							92.0	82.0	86.0					7																	91852280		2203	4298	6501	SO:0001587	stop_gained	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91852280G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1267C>T	7.37:g.91852280G>A	ENSP00000344668:p.Arg423*					KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R375*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R423*	p.R423*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		14	2050	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		423			FERM.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	37	c.1267C>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	40	8.330743	0.98762	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	.	.	.	5.26	3.38	0.38709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8553	13.9183	0.63914	0.0:0.0:0.7024:0.2976	.	.	.	.	X	423;423;423;423;375;423	.	ENSP00000344668:R423X	R	-	1	2	KRIT1	91690216	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.761000	0.55242	0.532000	0.28657	0.460000	0.39030	CGA		0.343	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			17	52	0	0	0	1	0	17	52				
ZFX	7543	broad.mit.edu	37	X	24227140	24227140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24227140C>T	ENST00000379177.1	+	10	1644	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	ZFX_ENST00000379188.3_Missense_Mutation_p.S406F|ZFX_ENST00000338565.3_Missense_Mutation_p.S356F|ZFX_ENST00000539115.1_Missense_Mutation_p.S177F|ZFX_ENST00000304543.5_Missense_Mutation_p.S406F|ZFX_ENST00000540034.1_Missense_Mutation_p.S445F	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	406					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGACCTGATTCCAGGCAGTAC	0.532																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1216-1218)tCc>tTc		zinc finger protein, X-linked							114.0	90.0	98.0					X																	24227140		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24227140C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1217C>T	X.37:g.24227140C>T	ENSP00000368475:p.Ser406Phe					ZFX_ENST00000539115.1_Missense_Mutation_p.S177F|ZFX_ENST00000338565.3_Missense_Mutation_p.S356F|ZFX_ENST00000379188.3_Missense_Mutation_p.S406F|ZFX_ENST00000540034.1_Missense_Mutation_p.S445F|ZFX_ENST00000304543.5_Missense_Mutation_p.S406F	p.S406F	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			10	1644	+			406					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.1217C>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710928	0.48517	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.21	5.21	0.72293	Transcriptional activator, Zfx / Zfy domain (1);	0.196755	0.36338	N	0.002645	T	0.56949	0.2020	L	0.44542	1.39	0.33067	D	0.53484	D;D;P;D	0.64830	0.981;0.994;0.773;0.987	D;P;P;P	0.63192	0.912;0.808;0.58;0.88	T	0.66885	-0.5810	10	0.45353	T	0.12	-3.2931	12.878	0.58001	0.1625:0.8375:0.0:0.0	.	445;257;406;410	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	F	177;406;257;406;406;445;356	ENSP00000438233:S177F;ENSP00000368486:S406F;ENSP00000368475:S406F;ENSP00000304985:S406F;ENSP00000441382:S445F;ENSP00000343384:S356F	ENSP00000304985:S406F	S	+	2	0	ZFX	24137061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.774000	0.47694	2.142000	0.66516	0.422000	0.28245	TCC		0.532	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		28	36	0	0	0	1	0	28	36				
SEC24A	10802	broad.mit.edu	37	5	134023989	134023989	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134023989G>T	ENST00000398844.2	+	11	2011	c.1723G>T	c.(1723-1725)Gat>Tat	p.D575Y	SEC24A_ENST00000322887.4_Splice_Site_p.D575Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	575					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATATTGAAGGTATAGATTT	0.308																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.e11+1		SEC24 family member A							83.0	74.0	77.0					5																	134023989		1800	4066	5866	SO:0001630	splice_region_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134023989G>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1723+1G>T	5.37:g.134023989G>T						SEC24A_ENST00000322887.4_Splice_Site_p.D575_splice	p.D575_splice	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2011	+			575					A8MVW3|Q8WUV2|Q96GP7	Splice_Site	SNP	ENST00000398844.2	37	c.1723_splice	CCDS43363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.339157|4.339157	0.81911|0.81911	.|.	.|.	ENSG00000113615|ENSG00000113615	ENST00000398844;ENST00000322887|ENST00000513123	T;T|.	0.79845|.	-1.31;-1.31|.	5.78|5.78	4.92|4.92	0.64577|0.64577	Sec23/Sec24, trunk domain (1);|.	0.089379|.	0.85682|.	D|.	0.000000|.	D|D	0.87212|0.87212	0.6121|0.6121	H|H	0.95982|0.95982	3.75|3.75	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	D|D	0.91182|0.91182	0.4977|0.4977	10|5	0.87932|.	D|.	0|.	-20.7237|-20.7237	14.6867|14.6867	0.69055|0.69055	0.0692:0.0:0.9308:0.0|0.0692:0.0:0.9308:0.0	.|.	339;575|.	B4E205;O95486|.	.;SC24A_HUMAN|.	Y|N	575|120	ENSP00000381823:D575Y;ENSP00000321749:D575Y|.	ENSP00000321749:D575Y|.	D|K	+|+	1|3	0|2	SEC24A|SEC24A	134051888|134051888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.029000|8.029000	0.88807|0.88807	1.451000|1.451000	0.47736|0.47736	0.650000|0.650000	0.86243|0.86243	GAT|AAG		0.308	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1		Missense_Mutation	5	41	1	0	1.23904e-05	1	1.39987e-05	5	41				
KYNU	8942	broad.mit.edu	37	2	143790850	143790850	+	Missense_Mutation	SNP	C	C	A	rs367959783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:143790850C>A	ENST00000264170.4	+	12	1259	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	KYNU_ENST00000409512.1_Missense_Mutation_p.P334H	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATTTCAAATCCTCCCATTTTG	0.378																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(1000-1002)cCt>cAt		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						329.0	319.0	322.0					2																	143790850		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790850C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1001C>A	2.37:g.143790850C>A	ENSP00000264170:p.Pro334His					KYNU_ENST00000409512.1_Missense_Mutation_p.P334H	p.P334H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1259	+			334						Missense_Mutation	SNP	ENST00000264170.4	37	c.1001C>A	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060912	0.76074	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.60672	0.17;0.17	6.03	6.03	0.97812	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.118719	0.64402	D	0.000011	T	0.82135	0.4971	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85055	0.0931	10	0.87932	D	0	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	334	Q16719	KYNU_HUMAN	H	334	ENSP00000264170:P334H;ENSP00000386731:P334H	ENSP00000264170:P334H	P	+	2	0	KYNU	143507320	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.782000	0.62396	2.861000	0.98227	0.655000	0.94253	CCT		0.378	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		9	279	1	0	2.17888e-05	1	2.45068e-05	9	279				
MYLK	4638	broad.mit.edu	37	3	123452870	123452870	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123452870A>G	ENST00000475616.1	-	7	972	c.973T>C	c.(973-975)Tgc>Cgc	p.C325R	MYLK_ENST00000360772.3_Missense_Mutation_p.C325R|MYLK_ENST00000360304.3_Missense_Mutation_p.C325R|MYLK_ENST00000346322.5_Missense_Mutation_p.C325R|MYLK_ENST00000359169.1_Missense_Mutation_p.C325R			Q15746	MYLK_HUMAN	myosin light chain kinase	325					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGTCCTTGCATGACTCCAGC	0.632																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(973-975)Tgc>Cgc		myosin light chain kinase							46.0	49.0	48.0					3																	123452870		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452870A>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.973T>C	3.37:g.123452870A>G	ENSP00000418335:p.Cys325Arg					MYLK_ENST00000346322.5_Missense_Mutation_p.C325R|MYLK_ENST00000360304.3_Missense_Mutation_p.C325R|MYLK_ENST00000359169.1_Missense_Mutation_p.C325R|MYLK_ENST00000475616.1_Missense_Mutation_p.C325R	p.C325R			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1351	-		Lung NSC(201;0.0496)	325					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.973T>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	A	8.855	0.945416	0.18356	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.64618	-0.11;-0.06;-0.11;-0.07;-0.06	5.32	-10.6	0.00265	.	.	.	.	.	T	0.34542	0.0901	N	0.24115	0.695	0.09310	N	0.999999	B;B;B;B;B	0.21905	0.001;0.007;0.002;0.007;0.062	B;B;B;B;B	0.20577	0.007;0.015;0.007;0.015;0.03	T	0.10941	-1.0608	9	0.25751	T	0.34	.	2.7683	0.05327	0.1038:0.1671:0.2849:0.4441	.	325;325;325;325;325	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	R	325	ENSP00000354004:C325R;ENSP00000353452:C325R;ENSP00000352088:C325R;ENSP00000320622:C325R;ENSP00000418335:C325R	ENSP00000320622:C325R	C	-	1	0	MYLK	124935560	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.174000	0.01264	-3.128000	0.00237	0.533000	0.62120	TGC		0.632	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	59	0	0	0	1	0	4	59				
SNX4	8723	broad.mit.edu	37	3	125170247	125170247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125170247C>T	ENST00000251775.4	-	13	1231	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	SNX4_ENST00000536067.1_Missense_Mutation_p.A258T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	403					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TCAGCCCATGCGTTTTTCACA	0.358																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1207-1209)Gca>Aca		sorting nexin 4							157.0	155.0	156.0					3																	125170247		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125170247C>T	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1207G>A	3.37:g.125170247C>T	ENSP00000251775:p.Ala403Thr					SNX4_ENST00000536067.1_Missense_Mutation_p.A258T	p.A403T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			13	1231	-			403					B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.1207G>A	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097189	0.76870	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.44482	0.92;2.01	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	M	0.65498	2.005	0.80722	D	1	P	0.49696	0.927	B	0.32805	0.153	T	0.44143	-0.9347	10	0.28530	T	0.3	-13.0867	18.4844	0.90823	0.0:1.0:0.0:0.0	.	403	O95219	SNX4_HUMAN	T	403;258	ENSP00000251775:A403T;ENSP00000440824:A258T	ENSP00000251775:A403T	A	-	1	0	SNX4	126652937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.171000	0.64996	2.592000	0.87571	0.585000	0.79938	GCA		0.358	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		45	89	0	0	0	1	0	45	89				
PLEKHM3	389072	broad.mit.edu	37	2	208841666	208841666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208841666C>T	ENST00000427836.2	-	3	1744	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.D419N|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.D419N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	419	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCAGCCATCCAGGTTGTCC	0.552																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1255-1257)Gat>Aat		pleckstrin homology domain containing, family M, member 3							59.0	63.0	62.0					2																	208841666		2047	4198	6245	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208841666C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1255G>A	2.37:g.208841666C>T	ENSP00000417003:p.Asp419Asn					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.D419N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.D419N	p.D419N			Q6ZWE6	PKHM3_HUMAN			3	1682	-			419			PH 2.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1255G>A	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.20|14.20	2.464895|2.464895	0.43839|0.43839	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	T;T;T|.	0.76448|.	-1.02;-1.02;-1.02|.	5.82|5.82	4.93|4.93	0.64822|0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.197005|.	0.52532|.	D|.	0.000066|.	T|T	0.59404|0.59404	0.2191|0.2191	L|L	0.38175|0.38175	1.15|1.15	0.50039|0.50039	D|D	0.999847|0.999847	B;B|.	0.32653|.	0.379;0.379|.	B;B|.	0.40825|.	0.239;0.341|.	T|T	0.55811|0.55811	-0.8082|-0.8082	10|5	0.30078|.	T|.	0.28|.	.|.	16.9972|16.9972	0.86371|0.86371	0.0:0.8726:0.1274:0.0|0.0:0.8726:0.1274:0.0	.|.	419;419|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	N|E	419|170	ENSP00000417003:D419N;ENSP00000373899:D419N;ENSP00000400150:D419N|.	ENSP00000373899:D419N|.	D|G	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208549911|208549911	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.447000|0.447000	0.32167|0.32167	2.363000|2.363000	0.44178|0.44178	1.442000|1.442000	0.47568|0.47568	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.552	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		15	16	0	0	0	1	0	15	16				
CLIP2	7461	broad.mit.edu	37	7	73811413	73811413	+	Silent	SNP	C	C	T	rs144390075	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73811413C>T	ENST00000395060.1	+	13	2730	c.2730C>T	c.(2728-2730)aaC>aaT	p.N910N	CLIP2_ENST00000361545.5_Silent_p.N875N|CLIP2_ENST00000223398.6_Silent_p.N910N			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	910						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGAGCCTGAACGAACTGCGGG	0.632													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15743	0.0		0.002	False		,,,				2504	0.0					ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2728-2730)aaC>aaT		CAP-GLY domain containing linker protein 2		C	,	2,4404	4.2+/-10.8	0,2,2201	85.0	79.0	81.0		2730,2625	-4.4	0.6	7	dbSNP_134	81	29,8571	20.4+/-63.3	0,29,4271	no	coding-synonymous,coding-synonymous	CLIP2	NM_003388.4,NM_032421.2	,	0,31,6472	TT,TC,CC		0.3372,0.0454,0.2384	,	910/1047,875/1012	73811413	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73811413C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2730C>T	7.37:g.73811413C>T						CLIP2_ENST00000361545.5_Silent_p.N875N|CLIP2_ENST00000395060.1_Silent_p.N910N	p.N910N	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			14	3057	+			910					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.2730C>T	CCDS5569.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	1.201	-0.632393	0.03584	4.54E-4	0.003372	ENSG00000106665	ENST00000493166	.	.	.	4.54	-4.38	0.03622	.	.	.	.	.	T	0.61912	0.2385	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61133	-0.7124	4	.	.	.	-26.974	13.0193	0.58777	0.0:0.302:0.0:0.698	.	.	.	.	M	160	.	.	T	+	2	0	CLIP2	73449349	0.000000	0.05858	0.644000	0.29465	0.152000	0.21847	-2.654000	0.00855	-0.913000	0.03832	-0.258000	0.10820	ACG		0.632	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		4	84	0	0	0	1	0	4	84				
MIA3	375056	broad.mit.edu	37	1	222805573	222805573	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222805573C>A	ENST00000344922.5	+	5	3261	c.3236C>A	c.(3235-3237)cCt>cAt	p.P1079H	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.P1079H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1079					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTGCAGGTTCCTGAAGAACCC	0.483																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(3235-3237)cCt>cAt		melanoma inhibitory activity family, member 3							127.0	123.0	124.0					1																	222805573		1963	4141	6104	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222805573C>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3236C>A	1.37:g.222805573C>A	ENSP00000340900:p.Pro1079His					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.P1079H|MIA3_ENST00000470521.1_3'UTR	p.P1079H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	5	3261	+			1079					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.3236C>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672847	0.29693	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.05258	3.47;3.47	3.72	2.8	0.32819	.	.	.	.	.	T	0.05868	0.0153	L	0.44542	1.39	0.09310	N	1	P;P	0.43169	0.8;0.612	B;B	0.36418	0.224;0.219	T	0.32771	-0.9894	9	0.59425	D	0.04	.	7.1894	0.25816	0.0:0.8785:0.0:0.1215	.	1079;1079	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	H	1079	ENSP00000340900:P1079H;ENSP00000340587:P1079H	ENSP00000325973:P1079H	P	+	2	0	MIA3	220872196	0.001000	0.12720	0.025000	0.17156	0.135000	0.20990	0.447000	0.21710	1.145000	0.42336	0.557000	0.71058	CCT		0.483	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		14	114	1	0	1.05317e-09	1	1.28483e-09	14	114				
TTC6	319089	broad.mit.edu	37	14	38266099	38266099	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38266099A>C	ENST00000476979.1	+	4	456	c.169A>C	c.(169-171)Atg>Ctg	p.M57L	TTC6_ENST00000553443.1_Missense_Mutation_p.M1326L|TTC6_ENST00000382320.3_Missense_Mutation_p.M40L|TTC6_ENST00000267368.7_Missense_Mutation_p.M57L|TTC6_ENST00000554555.1_3'UTR			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	57										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)		TAGAGCTGAGATGACCATGTG	0.403																																						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.(3976-3978)Atg>Ctg		tetratricopeptide repeat domain 6							105.0	96.0	99.0					14																	38266099		2203	4300	6503	SO:0001583	missense	319089							g.chr14:38266099A>C	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.169A>C	14.37:g.38266099A>C	ENSP00000417788:p.Met57Leu					TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000267368.7_Missense_Mutation_p.M57L|TTC6_ENST00000382320.3_Missense_Mutation_p.M40L|TTC6_ENST00000476979.1_Missense_Mutation_p.M57L	p.M1326L					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)	20	3976	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37	c.3976A>C		.	.	.	.	.	.	.	.	.	.	A	0.799	-0.756230	0.03019	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	T;T;T;T	0.67345	0.74;-0.26;-0.26;0.84	5.07	-4.41	0.03590	Tetratricopeptide-like helical (1);	1.001120	0.08060	N	0.998025	T	0.42154	0.1190	.	.	.	0.20975	N	0.999811	B;B	0.18013	0.025;0.0	B;B	0.19391	0.025;0.0	T	0.40813	-0.9543	8	0.11794	T	0.64	-3.1319	8.9065	0.35526	0.1996:0.5449:0.2555:0.0	.	1326;57	G3V3A5;Q86TZ1	.;TTC6_HUMAN	L	1326;57;57;40	ENSP00000451131:M1326L;ENSP00000417788:M57L;ENSP00000267368:M57L;ENSP00000371757:M40L	ENSP00000267368:M57L	M	+	1	0	TTC6	37335850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.004000	0.12878	-0.637000	0.05516	-0.370000	0.07254	ATG		0.403	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		6	44	0	0	0	1	0	6	44				
GPR98	84059	broad.mit.edu	37	5	90052921	90052921	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052921T>G	ENST00000405460.2	+	57	11979	c.11883T>G	c.(11881-11883)agT>agG	p.S3961R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3961	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACCAGACAGTGCTGGCCTGG	0.448																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11881-11883)agT>agG		G protein-coupled receptor 98							91.0	92.0	92.0					5																	90052921		1870	4109	5979	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90052921T>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11883T>G	5.37:g.90052921T>G	ENSP00000384582:p.Ser3961Arg						p.S3961R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	57	11979	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3961					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11883T>G	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.04|17.04	3.287311|3.287311	0.59867|0.59867	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.33865|.	1.39|.	5.08|5.08	-1.91|-1.91	0.07641|0.07641	Na-Ca exchanger/integrin-beta4 (2);|.	0.222561|.	0.52532|.	D|.	0.000067|.	T|T	0.65407|0.65407	0.2688|0.2688	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	P;B|.	0.45986|.	0.87;0.351|.	P;B|.	0.48738|.	0.588;0.122|.	T|T	0.62320|0.62320	-0.6879|-0.6879	10|5	0.87932|.	D|.	0|.	.|.	10.2276|10.2276	0.43236|0.43236	0.0:0.3151:0.0:0.6849|0.0:0.3151:0.0:0.6849	.|.	3961;3961|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	R|G	3961|1527	ENSP00000384582:S3961R|.	ENSP00000296619:S3961R|.	S|V	+|+	3|2	2|0	GPR98|GPR98	90088677|90088677	0.995000|0.995000	0.38212|0.38212	0.035000|0.035000	0.18076|0.18076	0.911000|0.911000	0.54048|0.54048	0.379000|0.379000	0.20585|0.20585	-0.490000|-0.490000	0.06707|0.06707	0.383000|0.383000	0.25322|0.25322	AGT|GTG		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		14	42	0	0	0	1	0	14	42				
CALB1	793	broad.mit.edu	37	8	91072448	91072448	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91072448G>A	ENST00000265431.3	-	11	920	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	CALB1_ENST00000518457.1_Silent_p.L190L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	247					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTTCGGTACAGCTTCCCTCCA	0.393																																					Melanoma(46;573 1182 27367 39727 48386)	ENST00000265431.3																			0				breast(1)|kidney(1)|lung(8)|pancreas(1)	11						c.(739-741)Ctg>Ttg		calbindin 1, 28kDa							212.0	192.0	199.0					8																	91072448		2203	4300	6503	SO:0001819	synonymous_variant	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91072448G>A		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.739C>T	8.37:g.91072448G>A						CALB1_ENST00000518457.1_Silent_p.L190L	p.L247L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		11	920	-			247					B2R696|B7Z9J4	Silent	SNP	ENST00000265431.3	37	c.739C>T	CCDS6251.1																																																																																				0.393	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929		55	70	0	0	0	1	0	55	70				
NLRP11	204801	broad.mit.edu	37	19	56300722	56300722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56300722C>T	ENST00000589093.1	-	8	2650	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	NLRP11_ENST00000592953.1_Missense_Mutation_p.A754T|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799T|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799T|NLRP11_ENST00000443188.1_Missense_Mutation_p.A853T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAACTATGGCAATATATTGA	0.413																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2557-2559)Gcc>Acc		NLR family, pyrin domain containing 11							126.0	131.0	129.0					19																	56300722		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56300722C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2557G>A	19.37:g.56300722C>T	ENSP00000466285:p.Ala853Thr					NLRP11_ENST00000592953.1_Missense_Mutation_p.A754T|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799T|NLRP11_ENST00000589093.1_Missense_Mutation_p.A853T|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799T	p.A853T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	3267	-		Colorectal(82;0.0002)	853					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2557G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501002	0.44455	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.57752	0.38;0.38	2.92	-0.807	0.10872	.	.	.	.	.	T	0.62392	0.2424	M	0.69463	2.115	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.96;0.987	T	0.50320	-0.8842	9	0.52906	T	0.07	.	3.5178	0.07731	0.4399:0.4263:0.0:0.1338	.	853;799	P59045;P59045-2	NAL11_HUMAN;.	T	853;799	ENSP00000409898:A853T;ENSP00000353251:A799T	ENSP00000353251:A799T	A	-	1	0	NLRP11	60992534	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.368000	0.07543	-0.054000	0.13266	0.591000	0.81541	GCC		0.413	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		36	84	0	0	0	1	0	36	84				
TAL1	6886	broad.mit.edu	37	1	47689770	47689770	+	Splice_Site	SNP	G	G	A	rs202230062		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47689770G>A	ENST00000294339.3	-	3	1023	c.447C>T	c.(445-447)agC>agT	p.S149S	RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000371884.2_Splice_Site_p.S149S|TAL1_ENST00000459729.1_5'Flank|TAL1_ENST00000371883.3_Silent_p.S151S	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	149					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAAGAACCCGCTGTGGGAGG	0.557			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	ENST00000294339.3				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	"""TRD@, SIL"""		lymphoblastic leukemia/biphasic		0				haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						c.e3-1		T-cell acute lymphocytic leukemia 1		G		0,4406		0,0,2203	108.0	101.0	103.0		447	-2.5	1.0	1		103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	TAL1	NM_003189.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		149/332	47689770	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47689770G>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.447-1C>T	1.37:g.47689770G>A						TAL1_ENST00000371883.3_Silent_p.S151S|TAL1_ENST00000371884.2_Splice_Site_p.S149_splice	p.S149_splice	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN			3	1023	-			149					D3DQ24	Splice_Site	SNP	ENST00000294339.3	37	c.446_splice	CCDS547.1																																																																																				0.557	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189	Silent	30	48	0	0	0	1	0	30	48				
FOXP2	93986	broad.mit.edu	37	7	114302238	114302238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114302238C>T	ENST00000393494.2	+	14	2045	c.1766C>T	c.(1765-1767)aCa>aTa	p.T589I	FOXP2_ENST00000393489.3_Missense_Mutation_p.T497I|FOXP2_ENST00000350908.4_Missense_Mutation_p.T589I|FOXP2_ENST00000393491.3_Missense_Mutation_p.T404I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T606I|FOXP2_ENST00000393498.2_Missense_Mutation_p.T568I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.T614I			O15409	FOXP2_HUMAN	forkhead box P2	589					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAAAGATAACAGGGTATGTT	0.413																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1840-1842)aCa>aTa		forkhead box P2							138.0	131.0	134.0					7																	114302238		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114302238C>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1766C>T	7.37:g.114302238C>T	ENSP00000377132:p.Thr589Ile					FOXP2_ENST00000393494.2_Missense_Mutation_p.T589I|FOXP2_ENST00000393491.3_Missense_Mutation_p.T404I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T606I|FOXP2_ENST00000393489.3_Missense_Mutation_p.T497I|FOXP2_ENST00000393498.2_Missense_Mutation_p.T568I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.T589I	p.T614I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			15	2215	+			589					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1841C>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516848	0.64634	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92048	-2.73;-2.72;-2.74;-2.73;-2.81;-2.96	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	L	0.43152	1.355	0.80722	D	1	D;D;P;D;D	0.69078	0.997;0.997;0.869;0.997;0.997	D;D;P;D;D	0.79108	0.992;0.992;0.722;0.992;0.991	D	0.94885	0.8042	10	0.87932	D	0	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	588;606;404;589;614	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	I	589;614;606;589;566;497;404	ENSP00000377132:T589I;ENSP00000386200:T614I;ENSP00000385069:T606I;ENSP00000265436:T589I;ENSP00000377129:T497I;ENSP00000377130:T404I	ENSP00000265436:T589I	T	+	2	0	FOXP2	114089474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.765000	0.95021	0.655000	0.94253	ACA		0.413	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		10	73	0	0	0	1	0	10	73				
MALT1	10892	broad.mit.edu	37	18	56376782	56376782	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56376782A>G	ENST00000348428.3	+	5	1080	c.822A>G	c.(820-822)ctA>ctG	p.L274L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.L274L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	274	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAAAAAGCTATACATGGTAG	0.368			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(820-822)ctA>ctG		mucosa associated lymphoid tissue lymphoma translocation gene 1							84.0	76.0	79.0					18																	56376782		2203	4300	6503	SO:0001819	synonymous_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56376782A>G		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.822A>G	18.37:g.56376782A>G						MALT1_ENST00000345724.3_Silent_p.L274L|RP11-126O1.4_ENST00000588835.1_RNA	p.L274L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			5	1080	+			274			Ig-like C2-type 2.		Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	c.822A>G	CCDS11967.1																																																																																				0.368	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			20	27	0	0	0	1	0	20	27				
SMEK2	57223	broad.mit.edu	37	2	55825811	55825811	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55825811T>C	ENST00000345102.5	-	4	963	c.662A>G	c.(661-663)gAt>gGt	p.D221G	SMEK2_ENST00000272313.5_Missense_Mutation_p.D221G|SMEK2_ENST00000407823.3_Missense_Mutation_p.D221G	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	221					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCCCACGACATCCATGATACA	0.368																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(661-663)gAt>gGt		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							96.0	94.0	95.0					2																	55825811		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825811T>C	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.662A>G	2.37:g.55825811T>C	ENSP00000339769:p.Asp221Gly					SMEK2_ENST00000407823.3_Missense_Mutation_p.D221G|SMEK2_ENST00000345102.5_Missense_Mutation_p.D221G	p.D221G	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	989	-			221					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.662A>G	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654187	0.67472	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41400	1.0;1.0;1.0	5.59	5.59	0.84812	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	L	0.42008	1.315	0.80722	D	1	B;D;B;B	0.71674	0.074;0.998;0.036;0.151	B;D;B;B	0.70016	0.072;0.967;0.043;0.344	T	0.47341	-0.9125	10	0.22706	T	0.39	-15.1226	15.7577	0.78046	0.0:0.0:0.0:1.0	.	221;221;221;221	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	G	221	ENSP00000272313:D221G;ENSP00000385912:D221G;ENSP00000339769:D221G	ENSP00000272313:D221G	D	-	2	0	SMEK2	55679315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.117000	0.64856	0.533000	0.62120	GAT		0.368	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		4	80	0	0	0	1	0	4	80				
RAB3GAP2	25782	broad.mit.edu	37	1	220356155	220356155	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220356155C>A	ENST00000358951.2	-	20	2233	c.2117G>T	c.(2116-2118)gGt>gTt	p.G706V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	706					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGGCAACACACCATCTTTATC	0.353																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2116-2118)gGt>gTt		RAB3 GTPase activating protein subunit 2 (non-catalytic)							114.0	111.0	112.0					1																	220356155		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220356155C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2117G>T	1.37:g.220356155C>A	ENSP00000351832:p.Gly706Val						p.G706V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	20	2233	-			706					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2117G>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300074	0.40694	.	.	ENSG00000118873	ENST00000358951	T	0.31247	1.5	5.45	5.45	0.79879	.	0.273800	0.40302	N	0.001132	T	0.19886	0.0478	N	0.14661	0.345	0.50039	D	0.999845	B	0.20164	0.042	B	0.17722	0.019	T	0.03993	-1.0986	10	0.42905	T	0.14	.	13.0472	0.58933	0.0:0.9162:0.0:0.0838	.	706	Q9H2M9	RBGPR_HUMAN	V	706	ENSP00000351832:G706V	ENSP00000351832:G706V	G	-	2	0	RAB3GAP2	218422778	0.190000	0.23276	0.998000	0.56505	0.997000	0.91878	0.904000	0.28491	2.560000	0.86352	0.585000	0.79938	GGT		0.353	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		6	77	1	0	0.0293803	1	0.0301098	6	77				
MROH2B	133558	broad.mit.edu	37	5	41000856	41000856	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41000856A>C	ENST00000399564.4	-	38	4724	c.4274T>G	c.(4273-4275)tTt>tGt	p.F1425C	MROH2B_ENST00000506092.2_Missense_Mutation_p.F980C	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1425																	TTCAGCAAAAAAAATCTTCCA	0.458																																						ENST00000399564.4																			0											c.(4273-4275)tTt>tGt		maestro heat-like repeat family member 2B							68.0	67.0	67.0					5																	41000856		1882	4132	6014	SO:0001583	missense	133558							g.chr5:41000856A>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4274T>G	5.37:g.41000856A>C	ENSP00000382476:p.Phe1425Cys					MROH2B_ENST00000506092.2_Missense_Mutation_p.F980C	p.F1425C	NM_173489.4	NP_775760.3					38	4724	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4274T>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762562	0.69763	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64618	-0.11;-0.11	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.75679	0.3882	M	0.68593	2.085	0.37882	D	0.930429	D	0.89917	1.0	D	0.85130	0.997	T	0.77670	-0.2501	10	0.38643	T	0.18	.	12.6015	0.56499	1.0:0.0:0.0:0.0	.	1425	Q7Z745	HTRB2_HUMAN	C	980;1130;1425	ENSP00000441504:F980C;ENSP00000382476:F1425C	ENSP00000296803:F1130C	F	-	2	0	HEATR7B2	41036613	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.962000	0.49176	2.291000	0.77112	0.533000	0.62120	TTT		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		11	7	0	0	0	1	0	11	7				
RFX6	222546	broad.mit.edu	37	6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T	rs201446493		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246619C>T	ENST00000332958.2	+	16	1698	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.A561V(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		21160	0.0		0.001	False		,,,				2504	0.0					ENST00000332958.2																			3	Substitution - Missense(3)	p.A561V(3)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1681-1683)gCg>gTg		regulatory factor X, 6							109.0	114.0	112.0					6																	117246619		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117246619C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1682C>T	6.37:g.117246619C>T	ENSP00000332208:p.Ala561Val						p.A561V	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			16	1698	+			561					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1682C>T	CCDS5113.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.3	4.907150	0.92107	.	.	ENSG00000185002	ENST00000332958	T	0.58940	0.3	5.85	5.85	0.93711	.	0.101828	0.64402	D	0.000002	T	0.65729	0.2719	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.56396	-0.7986	10	0.23891	T	0.37	-18.1239	20.1775	0.98187	0.0:1.0:0.0:0.0	.	561	Q8HWS3	RFX6_HUMAN	V	561	ENSP00000332208:A561V	ENSP00000332208:A561V	A	+	2	0	RFX6	117353312	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.595000	0.61048	2.771000	0.95319	0.561000	0.74099	GCG		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		6	113	0	0	0	1	0	6	113				
RRAGC	64121	broad.mit.edu	37	1	39321445	39321445	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39321445C>A	ENST00000373001.3	-	3	752	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GAATGTCCCTCTGTGTTTCTA	0.383																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(574-576)caG>caT		Ras-related GTP binding C							207.0	194.0	198.0					1																	39321445		2203	4300	6503	SO:0001583	missense	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39321445C>A	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.576G>T	1.37:g.39321445C>A	ENSP00000362092:p.Gln192His						p.Q192H	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN			3	752	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	192						Missense_Mutation	SNP	ENST00000373001.3	37	c.576G>T	CCDS430.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230261	0.79688	.	.	ENSG00000116954	ENST00000373001	D	0.82619	-1.63	6.06	3.18	0.36537	.	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.85630	2.765	0.80722	D	1	D;D;P	0.71674	0.997;0.998;0.813	D;D;P	0.74674	0.984;0.927;0.556	D	0.88746	0.3247	10	0.27785	T	0.31	-28.8777	12.0831	0.53682	0.0:0.8199:0.0:0.1801	.	158;126;192	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	H	192	ENSP00000362092:Q192H	ENSP00000362092:Q192H	Q	-	3	2	RRAGC	39094032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.578000	0.36525	1.574000	0.49760	0.650000	0.86243	CAG		0.383	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		28	106	1	0	4.7796e-09	1	5.77107e-09	28	106				
ERN1	2081	broad.mit.edu	37	17	62125289	62125289	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62125289G>A	ENST00000433197.3	-	19	2553	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTGAGGGGCGTTTCTGAGGA	0.468																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2458-2460)Cgc>Tgc		endoplasmic reticulum to nucleus signaling 1							88.0	87.0	87.0					17																	62125289		1953	4153	6106	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62125289G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2458C>T	17.37:g.62125289G>A	ENSP00000401445:p.Arg820Cys						p.R820C	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			19	2553	-			820			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2458C>T	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973384	0.74246	.	.	ENSG00000178607	ENST00000433197	D	0.83250	-1.7	5.32	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95864	0.8885	10	0.87932	D	0	-26.1598	15.9033	0.79400	0.0:0.0:0.8646:0.1353	.	820	O75460	ERN1_HUMAN	C	820	ENSP00000401445:R820C	ENSP00000401445:R820C	R	-	1	0	ERN1	59479021	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	3.903000	0.56318	2.648000	0.89879	0.561000	0.74099	CGC		0.468	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		17	28	0	0	0	1	0	17	28				
FSTL5	56884	broad.mit.edu	37	4	162306918	162306918	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162306918A>C	ENST00000306100.5	-	16	2961	c.2525T>G	c.(2524-2526)aTt>aGt	p.I842S	FSTL5_ENST00000427802.2_Missense_Mutation_p.I832S|FSTL5_ENST00000536695.1_Missense_Mutation_p.I841S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.I841S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	842						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCAACCCAAATGACTGTATT	0.348																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2524-2526)aTt>aGt		follistatin-like 5							117.0	117.0	117.0					4																	162306918		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162306918A>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2525T>G	4.37:g.162306918A>C	ENSP00000305334:p.Ile842Ser					RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.I841S|FSTL5_ENST00000427802.2_Missense_Mutation_p.I832S|FSTL5_ENST00000379164.4_Missense_Mutation_p.I841S	p.I842S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2961	-	all_hematologic(180;0.24)		842					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2525T>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.837288	0.50951	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.73789	-0.76;-0.74;-0.78;-0.74	5.84	5.84	0.93424	.	0.314687	0.36778	N	0.002403	T	0.66752	0.2821	N	0.25647	0.755	0.40779	D	0.983157	B;B;B	0.21606	0.058;0.005;0.058	B;B;B	0.28011	0.085;0.012;0.03	T	0.66312	-0.5955	10	0.87932	D	0	.	15.4073	0.74890	1.0:0.0:0.0:0.0	.	832;841;842	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	842;841;832;841	ENSP00000305334:I842S;ENSP00000368462:I841S;ENSP00000389270:I832S;ENSP00000440409:I841S	ENSP00000305334:I842S	I	-	2	0	FSTL5	162526368	1.000000	0.71417	0.914000	0.36105	0.996000	0.88848	8.831000	0.92068	2.237000	0.73441	0.533000	0.62120	ATT		0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		20	56	0	0	0	1	0	20	56				
ITSN1	6453	broad.mit.edu	37	21	35255925	35255925	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35255925C>A	ENST00000381318.3	+	36	4914	c.4626C>A	c.(4624-4626)atC>atA	p.I1542I	ITSN1_ENST00000399367.3_Silent_p.I1537I|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.I1542I|ITSN1_ENST00000437442.2_Silent_p.I1481I|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1542	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTTCCACATCTCCCACATTG	0.517																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4624-4626)atC>atA		intersectin 1 (SH3 domain protein)							124.0	122.0	123.0					21																	35255925		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35255925C>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4626C>A	21.37:g.35255925C>A						ITSN1_ENST00000381285.4_Silent_p.I1542I|ITSN1_ENST00000437442.2_Silent_p.I1481I|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.I1537I	p.I1542I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			36	4914	+			1542			PH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.4626C>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180173	0.21787	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.23	-0.615	0.11587	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52548	-0.8561	4	.	.	.	.	10.6389	0.45582	0.0:0.4955:0.0:0.5045	.	.	.	.	I	222	.	.	L	+	1	0	ITSN1	34177795	0.965000	0.33210	0.997000	0.53966	0.955000	0.61496	0.066000	0.14489	-0.180000	0.10637	-0.300000	0.09419	CTC		0.517	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		6	92	1	0	3.59834e-05	1	4.01776e-05	6	92				
CSRNP3	80034	broad.mit.edu	37	2	166532972	166532972	+	Missense_Mutation	SNP	C	C	T	rs150240455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166532972C>T	ENST00000342316.4	+	4	831	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	187					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCTCTGCTGCGTGCCTCTGG	0.493																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(559-561)Cgt>Tgt		cysteine-serine-rich nuclear protein 3							155.0	158.0	157.0					2																	166532972		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532972C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.559C>T	2.37:g.166532972C>T	ENSP00000344042:p.Arg187Cys					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	p.R187C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	935	+			187					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.559C>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618124	0.87359	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.77	3.92	0.45320	.	0.137201	0.50627	D	0.000118	T	0.48696	0.1514	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55341	-0.8156	10	0.87932	D	0	-8.8202	14.7122	0.69241	0.2369:0.7631:0.0:0.0	.	187	Q8WYN3	CSRN3_HUMAN	C	187;194;187;187;219	ENSP00000412081:R187C;ENSP00000318258:R187C;ENSP00000344042:R187C;ENSP00000387195:R219C	ENSP00000318258:R187C	R	+	1	0	CSRNP3	166241218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.209000	0.51122	0.847000	0.35167	0.655000	0.94253	CGT		0.493	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		90	138	0	0	0	1	0	90	138				
METTL21C	196541	broad.mit.edu	37	13	103338671	103338671	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103338671C>T	ENST00000267273.6	-	4	510	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	169					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CATACCAGTTCTTTCACTTCA	0.423																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(505-507)Gaa>Aaa		methyltransferase like 21C							92.0	93.0	93.0					13																	103338671		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338671C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.505G>A	13.37:g.103338671C>T	ENSP00000267273:p.Glu169Lys						p.E169K	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	510	-			169						Missense_Mutation	SNP	ENST00000267273.6	37	c.505G>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747074	0.30955	.	.	ENSG00000139780	ENST00000267273	T	0.44881	0.91	5.68	5.68	0.88126	.	0.220156	0.47852	D	0.000220	T	0.33614	0.0869	L	0.46819	1.47	0.28764	N	0.900738	B	0.19200	0.034	B	0.20384	0.029	T	0.19647	-1.0299	10	0.12766	T	0.61	-23.6293	10.8313	0.46663	0.0:0.8858:0.0:0.1142	.	169	Q5VZV1	MT21C_HUMAN	K	169	ENSP00000267273:E169K	ENSP00000267273:E169K	E	-	1	0	METTL21C	102136672	0.967000	0.33354	0.583000	0.28640	0.105000	0.19272	2.186000	0.42593	2.691000	0.91804	0.650000	0.86243	GAA		0.423	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		16	38	0	0	0	1	0	16	38				
CDH24	64403	broad.mit.edu	37	14	23523968	23523968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23523968C>T	ENST00000267383.5	-	3	696	c.604G>A	c.(604-606)Gac>Aac	p.D202N	CDH24_ENST00000397359.3_Missense_Mutation_p.D202N|CDH24_ENST00000554034.1_Missense_Mutation_p.D202N|CDH24_ENST00000487137.2_Missense_Mutation_p.D202N			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCTGGGGGTCCACAGAGAAG	0.592											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(604-606)Gac>Aac		cadherin 24, type 2							69.0	64.0	66.0					14																	23523968		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523968C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.604G>A	14.37:g.23523968C>T	ENSP00000267383:p.Asp202Asn		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000554034.1_Missense_Mutation_p.D202N|CDH24_ENST00000487137.2_Missense_Mutation_p.D202N|CDH24_ENST00000267383.5_Missense_Mutation_p.D202N	p.D202N	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	863	-	all_cancers(95;3.3e-05)		202			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.604G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466389	0.84425	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	L	0.46885	1.475	0.80722	D	1	D;D;D	0.89917	1.0;0.987;1.0	D;D;D	0.97110	0.999;0.964;1.0	T	0.67409	-0.5678	10	0.35671	T	0.21	.	16.2468	0.82449	0.0:1.0:0.0:0.0	.	202;202;202	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	N	202	ENSP00000380517:D202N;ENSP00000434821:D202N;ENSP00000452493:D202N;ENSP00000267383:D202N	ENSP00000267383:D202N	D	-	1	0	CDH24	22593808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.383000	0.81215	0.561000	0.74099	GAC		0.592	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		7	20	0	0	0	1	0	7	20				
PCSK5	5125	broad.mit.edu	37	9	78601108	78601108	+	Missense_Mutation	SNP	C	C	T	rs577634714		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78601108C>T	ENST00000545128.1	+	3	896	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	PCSK5_ENST00000376752.4_Missense_Mutation_p.R120C|PCSK5_ENST00000376767.3_Missense_Mutation_p.R120C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	120					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGACTTCAGTCGTGCCCAGTC	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19117	0.0		0.0	False		,,,				2504	0.0					ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(358-360)Cgt>Tgt		proprotein convertase subtilisin/kexin type 5							202.0	172.0	182.0					9																	78601108		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78601108C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.358C>T	9.37:g.78601108C>T	ENSP00000446280:p.Arg120Cys					PCSK5_ENST00000376752.4_Missense_Mutation_p.R120C|PCSK5_ENST00000376767.3_Missense_Mutation_p.R120C	p.R120C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			3	896	+			120			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.358C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120647	0.37436	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.49720	0.77;0.77;0.77	5.83	4.91	0.64330	.	.	.	.	.	T	0.37758	0.1015	N	0.17474	0.49	0.09310	N	1	P;D	0.54397	0.901;0.966	P;P	0.48901	0.594;0.513	T	0.18304	-1.0341	9	0.62326	D	0.03	.	7.6777	0.28494	0.241:0.519:0.24:0.0	.	120;120	Q92824-2;B1AMG5	.;.	C	120	ENSP00000446280:R120C;ENSP00000365958:R120C;ENSP00000365943:R120C	ENSP00000365943:R120C	R	+	1	0	PCSK5	77790928	0.996000	0.38824	0.595000	0.28798	0.757000	0.42996	2.476000	0.45171	2.756000	0.94617	0.655000	0.94253	CGT		0.473	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	35	0	0	0	1	0	19	35				
PLEKHM3	389072	broad.mit.edu	37	2	208866335	208866335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866335C>T	ENST00000427836.2	-	2	518	c.29G>A	c.(28-30)aGc>aAc	p.S10N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S10N|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.S10N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	10					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAGGCTGGGCTGATATCATC	0.478																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(28-30)aGc>aAc		pleckstrin homology domain containing, family M, member 3							127.0	120.0	122.0					2																	208866335		1872	4102	5974	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208866335C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.29G>A	2.37:g.208866335C>T	ENSP00000417003:p.Ser10Asn					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S10N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S10N	p.S10N			Q6ZWE6	PKHM3_HUMAN			2	456	-			10					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.29G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232804	0.79688	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.87729	-2.16;-2.19;-2.29	5.71	5.71	0.89125	.	0.129591	0.53938	D	0.000041	D	0.90783	0.7106	L	0.32530	0.975	0.49130	D	0.99975	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	D	0.91244	0.5024	10	0.87932	D	0	.	20.2785	0.98491	0.0:1.0:0.0:0.0	.	10;10	C9J119;Q6ZWE6	.;PKHM3_HUMAN	N	10	ENSP00000417003:S10N;ENSP00000373899:S10N;ENSP00000400150:S10N	ENSP00000373899:S10N	S	-	2	0	PLEKHM3	208574580	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.634000	0.67833	2.869000	0.98440	0.558000	0.71614	AGC		0.478	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		6	123	0	0	0	1	0	6	123				
LAMP1	3916	broad.mit.edu	37	13	113960824	113960824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113960824C>T	ENST00000332556.4	+	2	280	c.86C>T	c.(85-87)gCa>gTa	p.A29V	LAMP1_ENST00000397181.3_Missense_Mutation_p.A29V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	29	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGTCAGCAGCAATGTTTATG	0.488																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(85-87)gCa>gTa		lysosomal-associated membrane protein 1							170.0	166.0	168.0					13																	113960824		2011	4183	6194	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113960824C>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.86C>T	13.37:g.113960824C>T	ENSP00000333298:p.Ala29Val					LAMP1_ENST00000397181.3_Missense_Mutation_p.A29V	p.A29V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		2	280	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	29			First lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.86C>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	7.131	0.579904	0.13686	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.32515	1.45;1.45	5.04	4.19	0.49359	.	1.772850	0.02585	N	0.099261	T	0.31606	0.0802	L	0.42529	1.33	0.09310	N	1	B;B	0.24426	0.103;0.059	B;B	0.23574	0.047;0.009	T	0.24083	-1.0170	10	0.30854	T	0.27	-5.9716	9.6625	0.39962	0.0:0.9018:0.0:0.0982	.	29;29	B4DWL3;P11279	.;LAMP1_HUMAN	V	29	ENSP00000333298:A29V;ENSP00000415354:A29V	ENSP00000333298:A29V	A	+	2	0	LAMP1	113008825	0.009000	0.17119	0.003000	0.11579	0.009000	0.06853	-0.084000	0.11268	1.249000	0.43950	0.511000	0.50034	GCA		0.488	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			45	61	0	0	0	1	0	45	61				
ROCK1	6093	broad.mit.edu	37	18	18586428	18586428	+	Missense_Mutation	SNP	C	C	T	rs141266099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18586428C>T	ENST00000399799.2	-	16	2709	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	590	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCTAAAATTCGATTTCTCTC	0.403																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1768-1770)cGa>cAa		Rho-associated, coiled-coil containing protein kinase 1		C	GLN/ARG	0,4406		0,0,2203	159.0	149.0	152.0		1769	5.4	1.0	18	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROCK1	NM_005406.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	590/1355	18586428	1,13005	2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586428C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1769G>A	18.37:g.18586428C>T	ENSP00000382697:p.Arg590Gln						p.R590Q	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			16	2709	-	Melanoma(1;0.165)		590			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1769G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802402	0.70682	0.0	1.16E-4	ENSG00000067900	ENST00000399799	T	0.63096	-0.02	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.41236	1.265	0.80722	D	1	B	0.23540	0.087	B	0.14578	0.011	T	0.48433	-0.9036	10	0.15499	T	0.54	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	590	Q13464	ROCK1_HUMAN	Q	590	ENSP00000382697:R590Q	ENSP00000382697:R590Q	R	-	2	0	ROCK1	16840426	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.320000	0.79064	2.832000	0.97577	0.655000	0.94253	CGA		0.403	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		6	124	0	0	0	1	0	6	124				
NOX4	50507	broad.mit.edu	37	11	89182670	89182670	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89182670C>T	ENST00000263317.4	-	4	525	c.287G>A	c.(286-288)aGa>aAa	p.R96K	NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.R96K|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.R72K|NOX4_ENST00000343727.5_Missense_Mutation_p.R72K|NOX4_ENST00000535633.1_Missense_Mutation_p.R72K|NOX4_ENST00000542487.1_Missense_Mutation_p.R72K|NOX4_ENST00000424319.1_Missense_Mutation_p.R72K|NOX4_ENST00000525196.1_Missense_Mutation_p.R96K|NOX4_ENST00000413594.2_Missense_Mutation_p.R117K|NOX4_ENST00000528341.1_Missense_Mutation_p.R71K|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.R72K			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	96	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATCCAACAATCTCCTGGTTCT	0.303																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(214-216)aGa>aAa		NADPH oxidase 4							86.0	82.0	83.0					11																	89182670		2201	4295	6496	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89182670C>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.287G>A	11.37:g.89182670C>T	ENSP00000263317:p.Arg96Lys					NOX4_ENST00000532825.1_Missense_Mutation_p.R72K|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.R72K|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.R71K|NOX4_ENST00000525196.1_Missense_Mutation_p.R96K|NOX4_ENST00000413594.2_Missense_Mutation_p.R117K|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.R72K|NOX4_ENST00000343727.5_Missense_Mutation_p.R72K|NOX4_ENST00000527956.1_Missense_Mutation_p.R72K|NOX4_ENST00000534731.1_Missense_Mutation_p.R96K|NOX4_ENST00000263317.4_Missense_Mutation_p.R96K	p.R72K	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			4	525	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	96			Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.215G>A	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048120	0.93740	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.42	5.42	0.78866	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	L	0.49256	1.55	0.48830	D	0.999712	D;D;D;P;D	0.89917	0.992;1.0;0.979;0.765;0.998	D;D;D;P;D	0.91635	0.952;0.999;0.973;0.805;0.975	D	0.92873	0.6316	9	.	.	.	-13.902	18.0098	0.89219	0.0:1.0:0.0:0.0	.	72;71;96;96;96	E9PMY6;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	K	72;72;72;96;96;96;72;72;72;71;117	ENSP00000412446:R72K;ENSP00000440172:R72K;ENSP00000344747:R72K;ENSP00000436892:R96K;ENSP00000436716:R96K;ENSP00000263317:R96K;ENSP00000434924:R72K;ENSP00000433797:R72K;ENSP00000439373:R72K;ENSP00000436970:R71K;ENSP00000405705:R117K	.	R	-	2	0	NOX4	88822318	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.016000	0.70798	2.525000	0.85131	0.655000	0.94253	AGA		0.303	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		18	28	0	0	0	1	0	18	28				
GMPR2	51292	broad.mit.edu	37	14	24705324	24705324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24705324G>A	ENST00000355299.4	+	5	904	c.443G>A	c.(442-444)cGc>cAc	p.R148H	GMPR2_ENST00000456667.3_Missense_Mutation_p.R120H|GMPR2_ENST00000348719.7_Missense_Mutation_p.R148H|GMPR2_ENST00000420554.2_Missense_Mutation_p.R166H|GMPR2_ENST00000399440.2_Missense_Mutation_p.R148H|GMPR2_ENST00000559104.1_Intron|GMPR2_ENST00000559910.1_Intron|GMPR2_ENST00000557854.1_Missense_Mutation_p.R166H|GMPR2_ENST00000559836.1_Missense_Mutation_p.R148H	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	148					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GTACGGAAGCGCTTCCCCCAG	0.438																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(496-498)cGc>cAc		guanosine monophosphate reductase 2							120.0	119.0	119.0					14																	24705324		1995	4172	6167	SO:0001583	missense	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24705324G>A		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.443G>A	14.37:g.24705324G>A	ENSP00000347449:p.Arg148His					GMPR2_ENST00000559104.1_Intron|GMPR2_ENST00000456667.3_Missense_Mutation_p.R120H|GMPR2_ENST00000348719.7_Missense_Mutation_p.R148H|GMPR2_ENST00000559910.1_Intron|GMPR2_ENST00000420554.2_Missense_Mutation_p.R166H|GMPR2_ENST00000399440.2_Missense_Mutation_p.R148H|GMPR2_ENST00000355299.4_Missense_Mutation_p.R148H|GMPR2_ENST00000559836.1_Missense_Mutation_p.R148H	p.R166H			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	4	774	+			148					D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	c.497G>A	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109939	0.77210	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.53	3.72	0.42706	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.048275	0.85682	D	0.000000	T	0.72011	0.3408	N	0.21545	0.675	0.47065	D	0.999306	D;D;D;D	0.61697	0.973;0.977;0.99;0.986	P;P;P;P	0.51974	0.671;0.686;0.671;0.516	T	0.71431	-0.4595	10	0.44086	T	0.13	0.0199	11.3529	0.49598	0.1489:0.0:0.8511:0.0	.	120;148;166;148	Q86T14;Q6PKC0;Q9P2T1-2;Q9P2T1	.;.;.;GMPR2_HUMAN	H	148;148;166;148;148;120	ENSP00000347449:R148H;ENSP00000392859:R166H;ENSP00000382369:R148H;ENSP00000334409:R148H;ENSP00000405743:R120H	ENSP00000334409:R148H	R	+	2	0	GMPR2	23775164	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.789000	0.38724	0.900000	0.36469	0.655000	0.94253	CGC		0.438	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		36	60	0	0	0	1	0	36	60				
GATA3	2625	broad.mit.edu	37	10	8100600	8100600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8100600G>A	ENST00000346208.3	+	3	1029	c.574G>A	c.(574-576)Gac>Aac	p.D192N	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.D192N			P23771	GATA3_HUMAN	GATA binding protein 3	192					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCCCTGCCCGACAGCATGAA	0.682			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(574-576)Gac>Aac		GATA binding protein 3							84.0	76.0	79.0					10																	8100600		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100600G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.574G>A	10.37:g.8100600G>A	ENSP00000341619:p.Asp192Asn					GATA3_ENST00000346208.3_Missense_Mutation_p.D192N|GATA3_ENST00000461472.1_3'UTR	p.D192N	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	1142	+			192					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.574G>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979776	0.53827	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96200	-3.94;-3.92	5.55	4.64	0.57946	.	5.840160	0.00166	N	0.000011	D	0.94955	0.8368	L	0.38175	1.15	0.42430	D	0.992676	P;D	0.54601	0.762;0.967	B;P	0.47603	0.115;0.551	D	0.83701	0.0182	10	0.26408	T	0.33	-18.9679	15.71	0.77620	0.0:0.0:0.862:0.138	.	192;192	P23771;P23771-2	GATA3_HUMAN;.	N	192	ENSP00000368632:D192N;ENSP00000341619:D192N	ENSP00000341619:D192N	D	+	1	0	GATA3	8140606	1.000000	0.71417	0.979000	0.43373	0.979000	0.70002	8.011000	0.88624	1.316000	0.45131	0.561000	0.74099	GAC		0.682	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		21	59	0	0	0	1	0	21	59				
SNHG24	101929369	broad.mit.edu	37	14	101451113	101451113	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101451113C>A	ENST00000554693.2	+	0	886				SNORD114-22_ENST00000365423.1_RNA|SNORD114-26_ENST00000363543.1_RNA|SNORD114-23_ENST00000363536.1_RNA|SNORD114-21_ENST00000606412.1_RNA|SNORD114-24_ENST00000365029.1_RNA|SNORD114-25_ENST00000363742.1_RNA																							ATGATCCATCCTGGATCGATG	0.353																																						ENST00000554693.2																			0																				164.0	146.0	152.0					14																	101451113		876	1991	2867			0							g.chr14:101451113C>A																													14.37:g.101451113C>A						SNORD114-24_ENST00000365029.1_RNA								0	886	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.353	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			31	61	1	0	3.11337e-16	1	4.01248e-16	31	61				
IMPACT	55364	broad.mit.edu	37	18	22020582	22020582	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22020582G>T	ENST00000284202.4	+	6	631	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	164					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AACTCGGACAGGTATAATGTT	0.343																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.e6+1		impact RWD domain protein							138.0	136.0	137.0					18																	22020582		2203	4300	6503	SO:0001630	splice_region_variant	55364							g.chr18:22020582G>T	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.490+1G>T	18.37:g.22020582G>T							p.E164_splice	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			6	631	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		164					A8MXG0|Q49AM0|Q9H2X4	Splice_Site	SNP	ENST00000284202.4	37	c.490_splice	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923720	0.52653	.	.	ENSG00000154059	ENST00000284202	.	.	.	5.29	5.29	0.74685	.	2.632510	0.02277	U	0.068988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.4107	0.67113	0.0:0.0:1.0:0.0	.	.	.	.	X	164	.	ENSP00000284202:E164X	E	+	1	0	IMPACT	20274580	1.000000	0.71417	0.994000	0.49952	0.244000	0.25665	5.318000	0.65829	2.461000	0.83175	0.563000	0.77884	GAA		0.343	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	Nonsense_Mutation	7	152	1	0	2.0095e-06	1	2.31757e-06	7	152				
TAAR5	9038	broad.mit.edu	37	6	132910361	132910361	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132910361G>T	ENST00000258034.2	-	1	516	c.465C>A	c.(463-465)atC>atA	p.I155I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	155					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATCCTGCCAGGATGTACCTGA	0.542																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(463-465)atC>atA		trace amine associated receptor 5							82.0	85.0	84.0					6																	132910361		2203	4300	6503	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910361G>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.465C>A	6.37:g.132910361G>T							p.I155I	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	516	-	Breast(56;0.112)		155					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.465C>A	CCDS5156.1																																																																																				0.542	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		4	54	1	0	0.00909568	1	0.00947522	4	54				
SYT15	83849	broad.mit.edu	37	10	46968587	46968587	+	Missense_Mutation	SNP	C	C	T	rs373437721	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46968587C>T	ENST00000374321.4	-	3	415	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	SYT15_ENST00000503753.1_Missense_Mutation_p.G117S|SYT15_ENST00000374325.3_Missense_Mutation_p.G117S|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.G170S	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G117S(2)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAAGGCCGCCGCTGGAG	0.657													C|||	2	0.000399361	0.0015	0.0	5008	,	,		33609	0.0		0.0	False		,,,				2504	0.0				Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			2	Substitution - Missense(2)	p.G117S(2)	large_intestine(2)	cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(508-510)Ggc>Agc		synaptotagmin XV																																				SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46968587C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.349G>A	10.37:g.46968587C>T	ENSP00000363441:p.Gly117Ser					SYT15_ENST00000374321.4_Missense_Mutation_p.G117S|SYT15_ENST00000503753.1_Missense_Mutation_p.G117S|SYT15_ENST00000374325.3_Missense_Mutation_p.G117S	p.G170S			Q9BQS2	SYT15_HUMAN			2	1095	-			117			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.508G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	3.038	-0.198099	0.06219	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321	T;T;T;T	0.12465	2.68;2.68;2.87;2.89	4.37	0.329	0.15924	.	1.202190	0.06237	N	0.689767	T	0.04407	0.0121	N	0.04090	-0.28	0.09310	N	1	B;B	0.17852	0.007;0.024	B;B	0.06405	0.002;0.002	T	0.38520	-0.9657	10	0.06494	T	0.89	.	0.737	0.00967	0.2873:0.1088:0.1665:0.4374	.	117;117	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	S	117;117;117;170;117	ENSP00000363445:G117S;ENSP00000427607:G117S;ENSP00000363443:G170S;ENSP00000363441:G117S	ENSP00000363441:G117S	G	-	1	0	SYT15	46388593	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.273000	0.18662	0.294000	0.22547	-0.391000	0.06502	GGC		0.657	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		4	18	0	0	0	1	0	4	18				
POM121L12	285877	broad.mit.edu	37	7	53103889	53103889	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:53103889G>T	ENST00000408890.4	+	1	541	c.525G>T	c.(523-525)cgG>cgT	p.R175R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCACCCGGGAGACTCTGC	0.716																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(523-525)cgG>cgT		POM121 transmembrane nucleoporin-like 12							20.0	24.0	23.0					7																	53103889		1871	4092	5963	SO:0001819	synonymous_variant	285877							g.chr7:53103889G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.525G>T	7.37:g.53103889G>T							p.R175R	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	541	+			175					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.525G>T	CCDS43584.1																																																																																				0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		5	31	1	0	0.00116845	1	0.00124821	5	31				
HTT	3064	broad.mit.edu	37	4	3174046	3174046	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3174046G>T	ENST00000355072.5	+	30	4009		c.e30-1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTTTCTACAGTGTGTTGAAG	0.383																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.e30-1		huntingtin							192.0	177.0	182.0					4																	3174046		1904	4119	6023	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3174046G>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3865-1G>T	4.37:g.3174046G>T								NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	30	4009	+		all_epithelial(65;0.18)						Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37		CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106452	0.37145	.	.	ENSG00000197386	ENST00000355072;ENST00000509618	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9509	0.89052	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3143844	1.000000	0.71417	0.997000	0.53966	0.078000	0.17371	9.226000	0.95229	2.456000	0.83038	0.484000	0.47621	.		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Intron	11	119	1	0	2.27111e-07	1	2.66951e-07	11	119				
DOCK7	85440	broad.mit.edu	37	1	63113871	63113871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113871C>T	ENST00000340370.5	-	6	655	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DOCK7_ENST00000404627.2_Missense_Mutation_p.R213Q|DOCK7_ENST00000251157.5_Missense_Mutation_p.R213Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	213					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTTGGAGTTCGATCAAGTAA	0.403																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(637-639)cGa>cAa		dedicator of cytokinesis 7							106.0	109.0	108.0					1																	63113871		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113871C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.638G>A	1.37:g.63113871C>T	ENSP00000340742:p.Arg213Gln					DOCK7_ENST00000340370.5_Missense_Mutation_p.R213Q|DOCK7_ENST00000404627.2_Missense_Mutation_p.R213Q	p.R213Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			6	671	-			213					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.638G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743646	0.69418	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.17854	2.25;2.25;2.25	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	L	0.44542	1.39	0.80722	D	1	P;P;B;B;B	0.47910	0.902;0.646;0.307;0.307;0.068	B;B;B;B;B	0.38921	0.169;0.285;0.103;0.064;0.013	T	0.18461	-1.0336	10	0.23302	T	0.38	.	18.2377	0.89956	0.0:1.0:0.0:0.0	.	213;213;213;213;213	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	Q	213	ENSP00000251157:R213Q;ENSP00000340742:R213Q;ENSP00000384446:R213Q	ENSP00000251157:R213Q	R	-	2	0	DOCK7	62886459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.517000	0.84864	0.563000	0.77884	CGA		0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		31	70	0	0	0	1	0	31	70				
GPR98	84059	broad.mit.edu	37	5	90052412	90052412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052412G>A	ENST00000405460.2	+	56	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3908	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATGACGATCCCAGAGG	0.443																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11722-11724)Gat>Aat		G protein-coupled receptor 98							80.0	77.0	78.0					5																	90052412		1886	4107	5993	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90052412G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11722G>A	5.37:g.90052412G>A	ENSP00000384582:p.Asp3908Asn						p.D3908N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	56	11818	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3908					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11722G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880361	0.91740	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.37915	1.17	5.82	5.82	0.92795	Na-Ca exchanger/integrin-beta4 (1);	0.042722	0.85682	D	0.000000	T	0.57504	0.2058	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.64506	0.797;0.926	T	0.47736	-0.9094	10	0.32370	T	0.25	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	3908;3908	E7ETI5;Q8WXG9	.;GPR98_HUMAN	N	3908	ENSP00000384582:D3908N	ENSP00000296619:D3908N	D	+	1	0	GPR98	90088168	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	9.008000	0.93601	2.753000	0.94483	0.467000	0.42956	GAT		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		11	27	0	0	0	1	0	11	27				
IPO7	10527	broad.mit.edu	37	11	9452542	9452542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9452542C>T	ENST00000379719.3	+	16	2015	c.1873C>T	c.(1873-1875)Cat>Tat	p.H625Y	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	625					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGTTGAAGATCATAAAGAGGT	0.383																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1873-1875)Cat>Tat		importin 7							92.0	84.0	87.0					11																	9452542		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9452542C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1873C>T	11.37:g.9452542C>T	ENSP00000369042:p.His625Tyr					CTD-2371O3.2_ENST00000531111.1_RNA	p.H625Y	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	16	2015	+			625					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1873C>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251166	0.95305	.	.	ENSG00000205339	ENST00000379719	T	0.67171	-0.25	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.62016	1.91	0.80722	D	1	D	0.65815	0.995	P	0.62089	0.898	T	0.79736	-0.1678	10	0.56958	D	0.05	.	19.4518	0.94871	0.0:1.0:0.0:0.0	.	625	O95373	IPO7_HUMAN	Y	625	ENSP00000369042:H625Y	ENSP00000369042:H625Y	H	+	1	0	IPO7	9409118	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.615000	0.88500	0.650000	0.86243	CAT		0.383	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		24	33	0	0	0	1	0	24	33				
NEUROD6	63974	broad.mit.edu	37	7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31377922G>A	ENST00000297142.3	-	2	1283	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	321					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R321C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478																																						ENST00000297142.3																			1	Substitution - Missense(1)	p.R321C(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(961-963)Cgc>Tgc		neuronal differentiation 6							78.0	76.0	77.0					7																	31377922		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31377922G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.961C>T	7.37:g.31377922G>A	ENSP00000297142:p.Arg321Cys						p.R321C	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1283	-			321					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.961C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092480	0.55968	.	.	ENSG00000164600	ENST00000297142	D	0.95554	-3.74	5.13	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.97131	0.9818	10	0.87932	D	0	-0.6655	14.379	0.66900	0.0:0.0:0.8515:0.1485	.	321	Q96NK8	NDF6_HUMAN	C	321	ENSP00000297142:R321C	ENSP00000297142:R321C	R	-	1	0	NEUROD6	31344447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.496000	0.81526	2.386000	0.81285	0.650000	0.86243	CGC		0.478	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		5	73	0	0	0	1	0	5	73				
NUCB1	4924	broad.mit.edu	37	19	49422336	49422336	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422336T>C	ENST00000405315.4	+	9	1200	c.866T>C	c.(865-867)aTg>aCg	p.M289T	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.M289T|NUCB1_ENST00000263273.5_Missense_Mutation_p.M289T|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	289	Binds to GNAI2 and GNAI3. {ECO:0000250}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATGCGGGAGATGGAGGAGGAG	0.617																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(865-867)aTg>aCg		nucleobindin 1							57.0	58.0	58.0					19																	49422336		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422336T>C	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.866T>C	19.37:g.49422336T>C	ENSP00000385923:p.Met289Thr					NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.M289T|NUCB1_ENST00000263273.5_Missense_Mutation_p.M289T	p.M289T	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	9	1200	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	289			Binds to GNAI2 and GNAI3 (By similarity).		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.866T>C	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.295345|4.295345	0.81025|0.81025	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273|ENST00000424608	D;D;D|.	0.82984|.	-1.67;-1.67;-1.67|.	5.01|5.01	5.01|5.01	0.66863|0.66863	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51873|0.51873	0.1700|0.1700	L|L	0.28274|0.28274	0.84|0.84	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.65815|.	0.995;0.995|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.48758|0.48758	-0.9007|-0.9007	10|5	0.30078|.	T|.	0.28|.	.|.	12.9751|12.9751	0.58532|0.58532	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	289;289|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	T|R	289|259	ENSP00000385923:M289T;ENSP00000385211:M289T;ENSP00000263273:M289T|.	ENSP00000263273:M289T|.	M|W	+|+	2|1	0|0	NUCB1|NUCB1	54114148|54114148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.481000|7.481000	0.81124|0.81124	2.033000|2.033000	0.60031|0.60031	0.482000|0.482000	0.46254|0.46254	ATG|TGG		0.617	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		4	29	0	0	0	1	0	4	29				
KDELR2	11014	broad.mit.edu	37	7	6505922	6505922	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6505922G>A	ENST00000258739.4	-	4	568	c.384C>T	c.(382-384)tcC>tcT	p.S128S	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	128					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)	p.S128S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGATAGCCACGGACTCCAGGT	0.542																																						ENST00000258739.4																			1	Substitution - coding silent(1)	p.S128S(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(382-384)tcC>tcT		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							91.0	81.0	85.0					7																	6505922		2203	4300	6503	SO:0001819	synonymous_variant	0				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6505922G>A	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.384C>T	7.37:g.6505922G>A						DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Intron	p.S128S	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	4	568	-		Ovarian(82;0.0776)	128					A4D2P4|Q6IPC5|Q96E30	Silent	SNP	ENST00000258739.4	37	c.384C>T	CCDS5351.1																																																																																				0.542	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			4	85	0	0	0	1	0	4	85				
C15orf39	56905	broad.mit.edu	37	15	75499519	75499519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75499519G>T	ENST00000360639.2	+	2	1450	c.1130G>T	c.(1129-1131)aGt>aTt	p.S377I	C15orf39_ENST00000394987.4_Missense_Mutation_p.S377I|C15orf39_ENST00000567617.1_Missense_Mutation_p.S377I			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	377						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGACACTGAGTTTTCCTTAT	0.622																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1129-1131)aGt>aTt		chromosome 15 open reading frame 39							114.0	123.0	119.0					15																	75499519		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75499519G>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1130G>T	15.37:g.75499519G>T	ENSP00000353854:p.Ser377Ile					C15orf39_ENST00000394987.4_Missense_Mutation_p.S377I|C15orf39_ENST00000567617.1_Missense_Mutation_p.S377I	p.S377I			Q6ZRI6	CO039_HUMAN			2	1450	+			377					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1130G>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745001	0.30865	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.66280	-0.2;-0.2	4.85	4.85	0.62838	.	0.636054	0.14643	N	0.307089	T	0.52964	0.1767	L	0.36672	1.1	0.09310	N	1	P	0.36249	0.545	B	0.34991	0.193	T	0.52411	-0.8579	10	0.52906	T	0.07	-7.2715	13.4679	0.61266	0.0:0.0:1.0:0.0	.	377	Q6ZRI6	CO039_HUMAN	I	377	ENSP00000353854:S377I;ENSP00000378438:S377I	ENSP00000353854:S377I	S	+	2	0	C15orf39	73286572	0.173000	0.23056	0.637000	0.29366	0.449000	0.32228	3.013000	0.49582	2.247000	0.74100	0.462000	0.41574	AGT		0.622	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		8	142	1	0	0.000442599	1	0.00048047	8	142				
SMC3	9126	broad.mit.edu	37	10	112359426	112359426	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112359426G>T	ENST00000361804.4	+	21	2409	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	761					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTAGCTTACAGAGTTTGGAGG	0.353																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2281-2283)caG>caT		structural maintenance of chromosomes 3							118.0	110.0	113.0					10																	112359426		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112359426G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2283G>T	10.37:g.112359426G>T	ENSP00000354720:p.Gln761His						p.Q761H	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	21	2409	+		Breast(234;0.0848)|Lung NSC(174;0.238)	761					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2283G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636744	0.47049	.	.	ENSG00000108055	ENST00000361804	T	0.76839	-1.05	5.25	0.775	0.18527	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	N	0.24115	0.695	0.54753	D	0.999981	D	0.54772	0.968	P	0.52598	0.703	T	0.66551	-0.5895	10	0.45353	T	0.12	.	10.2288	0.43243	0.5146:0.0:0.4854:0.0	.	761	Q9UQE7	SMC3_HUMAN	H	761	ENSP00000354720:Q761H	ENSP00000354720:Q761H	Q	+	3	2	SMC3	112349416	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	1.365000	0.34182	-0.112000	0.11979	0.305000	0.20034	CAG		0.353	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		21	51	1	0	0.00278032	1	0.00294944	21	51				
CNTRL	11064	broad.mit.edu	37	9	123935588	123935588	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123935588C>A	ENST00000373855.1	+	41	6745	c.6485C>A	c.(6484-6486)tCt>tAt	p.S2162Y	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.S2162Y|CNTRL_ENST00000373850.1_Missense_Mutation_p.S1610Y			Q7Z7A1	CNTRL_HUMAN	centriolin	2162	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACACTTAAATCTGAGGTGAAG	0.368																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6484-6486)tCt>tAt		centriolin							64.0	64.0	64.0					9																	123935588		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123935588C>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6485C>A	9.37:g.123935588C>A	ENSP00000362962:p.Ser2162Tyr					CNTRL_ENST00000238341.5_Missense_Mutation_p.S2162Y|CNTRL_ENST00000373850.1_Missense_Mutation_p.S1610Y|CNTRL_ENST00000373845.2_3'UTR	p.S2162Y			Q7Z7A1	CNTRL_HUMAN			41	6745	+			2162			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6485C>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	0.914	-0.717946	0.03182	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.33654	1.75;1.75;1.4	6.16	-0.721	0.11189	.	.	.	.	.	T	0.22627	0.0546	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24368	-1.0162	9	0.48119	T	0.1	.	3.8312	0.08874	0.2249:0.3278:0.3546:0.0927	.	2162	Q7Z7A1	CNTRL_HUMAN	Y	2162;2162;2162;319;1610;844	ENSP00000362962:S2162Y;ENSP00000238341:S2162Y;ENSP00000362956:S1610Y	ENSP00000238341:S2162Y	S	+	2	0	CNTRL	122975409	0.028000	0.19301	0.967000	0.41034	0.819000	0.46315	-0.231000	0.09069	0.410000	0.25675	0.650000	0.86243	TCT		0.368	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		5	54	1	0	1	1	1	5	54				
KIAA1211	57482	broad.mit.edu	37	4	57182325	57182325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182325C>T	ENST00000504228.1	+	6	2762	c.2657C>T	c.(2656-2658)gCg>gTg	p.A886V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A886V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A879V			Q6ZU35	K1211_HUMAN	KIAA1211	886										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCCTGCAGCGGGGAGCGCT	0.617																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2656-2658)gCg>gTg		KIAA1211							32.0	43.0	39.0					4																	57182325		2173	4280	6453	SO:0001583	missense	57482							g.chr4:57182325C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2657C>T	4.37:g.57182325C>T	ENSP00000423366:p.Ala886Val					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A886V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A879V	p.A886V			Q6ZU35	K1211_HUMAN			6	2762	+	Glioma(25;0.08)|all_neural(26;0.101)		886					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2657C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	1.622	-0.521263	0.04171	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11604	2.77;2.77;2.76	5.18	-3.13	0.05266	.	.	.	.	.	T	0.03390	0.0098	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.44742	-0.9308	9	0.02654	T	1	0.3606	9.9205	0.41462	0.0:0.5574:0.0904:0.3522	.	879;879;886	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	V	886;886;879;796	ENSP00000264229:A886V;ENSP00000423366:A886V;ENSP00000444006:A879V	ENSP00000264229:A886V	A	+	2	0	KIAA1211	56877082	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.001000	0.12947	-0.613000	0.05694	-1.166000	0.01754	GCG		0.617	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		10	13	0	0	0	1	0	10	13				
CCDC85A	114800	broad.mit.edu	37	2	56611422	56611422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56611422G>T	ENST00000407595.2	+	6	2096	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	532										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAACTTGGAGATGCTGCAGG	0.393																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1594-1596)Gat>Tat		coiled-coil domain containing 85A							95.0	93.0	94.0					2																	56611422		1923	4122	6045	SO:0001583	missense	114800							g.chr2:56611422G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1594G>T	2.37:g.56611422G>T	ENSP00000384040:p.Asp532Tyr					RP11-482H16.1_ENST00000607540.1_RNA	p.D532Y	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		6	2096	+			532						Missense_Mutation	SNP	ENST00000407595.2	37	c.1594G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671533	0.67814	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000002	T	0.72645	0.3486	L	0.29908	0.895	0.47441	D	0.99942	D	0.89917	1.0	D	0.85130	0.997	T	0.74244	-0.3728	9	0.87932	D	0	-58.2336	20.4024	0.99000	0.0:0.0:1.0:0.0	.	532	Q96PX6	CC85A_HUMAN	Y	532;121	.	ENSP00000384040:D532Y	D	+	1	0	CCDC85A	56464926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.662000	0.83803	2.827000	0.97445	0.650000	0.86243	GAT		0.393	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			6	60	1	0	8.12818e-05	1	8.99451e-05	6	60				
SREBF2	6721	broad.mit.edu	37	22	42273399	42273399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42273399G>A	ENST00000361204.4	+	8	1719	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	518					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGCTCTGGCCGCAGTGTC	0.612																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1552-1554)gGc>gAc		sterol regulatory element binding transcription factor 2							71.0	65.0	67.0					22																	42273399		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42273399G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1553G>A	22.37:g.42273399G>A	ENSP00000354476:p.Gly518Asp						p.G518D	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			8	1719	+			518					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.1553G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676238	0.67928	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.59502	0.26	6.05	6.05	0.98169	.	0.203252	0.52532	D	0.000073	T	0.55657	0.1934	M	0.71581	2.175	0.52501	D	0.99995	P	0.39576	0.679	B	0.32342	0.144	T	0.63161	-0.6699	10	0.87932	D	0	-20.0427	15.1667	0.72833	0.0:0.1401:0.8599:0.0	.	518	Q12772	SRBP2_HUMAN	D	518	ENSP00000354476:G518D	ENSP00000354476:G518D	G	+	2	0	SREBF2	40603345	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	5.720000	0.68470	2.881000	0.98747	0.637000	0.83480	GGC		0.612	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		19	15	0	0	0	1	0	19	15				
NEDD9	4739	broad.mit.edu	37	6	11191146	11191146	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:11191146A>G	ENST00000379446.5	-	5	1122	c.956T>C	c.(955-957)gTc>gCc	p.V319A	NEDD9_ENST00000504387.1_Missense_Mutation_p.V319A|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	319					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCTCGGGGGACATCATATGC	0.577																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(955-957)gTc>gCc		neural precursor cell expressed, developmentally down-regulated 9							69.0	72.0	71.0					6																	11191146		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11191146A>G	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.956T>C	6.37:g.11191146A>G	ENSP00000368759:p.Val319Ala					RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.V319A	p.V319A	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1122	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	319					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.956T>C	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632288	0.29068	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.51574	0.7;0.79	5.94	5.94	0.96194	.	0.455157	0.25692	N	0.028935	T	0.28101	0.0693	L	0.55990	1.75	0.80722	D	1	B;B;B	0.22276	0.011;0.008;0.067	B;B;B	0.26969	0.062;0.028;0.075	T	0.21621	-1.0240	10	0.40728	T	0.16	-11.5361	8.8787	0.35360	0.8911:0.0:0.1089:0.0	.	319;319;319	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	A	319	ENSP00000368759:V319A;ENSP00000422871:V319A	ENSP00000368759:V319A	V	-	2	0	NEDD9	11299132	1.000000	0.71417	0.930000	0.37139	0.032000	0.12392	6.629000	0.74267	2.279000	0.76181	0.459000	0.35465	GTC		0.577	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		24	38	0	0	0	1	0	24	38				
OR10G9	219870	broad.mit.edu	37	11	123894466	123894466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123894466C>T	ENST00000375024.1	+	1	747	c.747C>T	c.(745-747)tgC>tgT	p.C249C		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTCCTTTGCTTTTTTGTTC	0.532																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(745-747)tgC>tgT		olfactory receptor, family 10, subfamily G, member 9							165.0	147.0	153.0					11																	123894466		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894466C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.747C>T	11.37:g.123894466C>T							p.C249C	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	747	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	249						Silent	SNP	ENST00000375024.1	37	c.747C>T	CCDS31703.1																																																																																				0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		7	111	0	0	0	1	0	7	111				
PCK2	5106	broad.mit.edu	37	14	24569430	24569430	+	Intron	SNP	C	C	T	rs541317046		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24569430C>T	ENST00000216780.4	+	7	1502				PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000396973.4_Silent_p.C414C|PCK2_ENST00000545054.2_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGGTATGTGCGGTGGGGAAG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19698	0.0		0.0	False		,,,				2504	0.0					ENST00000396973.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1240-1242)tgC>tgT		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							109.0	73.0	85.0					14																	24569430		2203	4300	6503	SO:0001627	intron_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569430C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1234+8C>T	14.37:g.24569430C>T						PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000216780.4_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron	p.C414C	NM_001018073.1	NP_001018083.1	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1489	+			0					O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	c.1242C>T	CCDS9609.1																																																																																				0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		7	17	0	0	0	1	0	7	17				
DUSP7	1849	broad.mit.edu	37	3	52084922	52084922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52084922G>A	ENST00000495880.1	-	3	1352	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	DUSP7_ENST00000296483.6_Missense_Mutation_p.P339L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	390					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGTCGCACGGGCTGCTTAG	0.572																																						ENST00000495880.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(1168-1170)cCg>cTg		dual specificity phosphatase 7							167.0	133.0	145.0					3																	52084922		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52084922G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1169C>T	3.37:g.52084922G>A	ENSP00000417183:p.Pro390Leu					DUSP7_ENST00000296483.6_Missense_Mutation_p.P339L	p.P390L			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1352	-			390					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.1169C>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	g	34	5.345626	0.95807	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.02631	4.22;4.25	5.75	5.75	0.90469	.	0.052915	0.85682	D	0.000000	T	0.11707	0.0285	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	T	0.00339	-1.1805	10	0.51188	T	0.08	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	390	Q16829	DUS7_HUMAN	L	390;339	ENSP00000417183:P390L;ENSP00000296483:P339L	ENSP00000296483:P339L	P	-	2	0	DUSP7	52059962	1.000000	0.71417	0.973000	0.42090	0.965000	0.64279	7.928000	0.87587	2.722000	0.93159	0.643000	0.83706	CCG		0.572	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		20	24	0	0	0	1	0	20	24				
COL6A1	1291	broad.mit.edu	37	21	47423035	47423035	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47423035C>T	ENST00000361866.3	+	34	2550	c.2436C>T	c.(2434-2436)gaC>gaT	p.D812D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	812	C-terminal globular domain.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CTTTTACAGACAAGAAGTGTC	0.632																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e34-1		collagen, type VI, alpha 1	Palifermin(DB00039)						80.0	80.0	80.0					21																	47423035		2203	4300	6503	SO:0001630	splice_region_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423035C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2435-1C>T	21.37:g.47423035C>T						COL6A1_ENST00000498614.1_3'UTR	p.D812_splice	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	34	2550	+	all_hematologic(128;0.24)		812			C-terminal globular domain.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Splice_Site	SNP	ENST00000361866.3	37	c.2434_splice	CCDS13727.1																																																																																				0.632	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	Silent	9	24	0	0	0	1	0	9	24				
C1orf116	79098	broad.mit.edu	37	1	207200840	207200840	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207200840G>T	ENST00000359470.5	-	2	353	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	35						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S35F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ATTACGTACAGATCCAGAGCG	0.637																																						ENST00000359470.5																			1	Substitution - Missense(1)	p.S35F(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.e2+1		chromosome 1 open reading frame 116							99.0	86.0	90.0					1																	207200840		2203	4300	6503	SO:0001630	splice_region_variant	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207200840G>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.105+1C>A	1.37:g.207200840G>T						C1orf116_ENST00000461135.2_Intron	p.S35_splice	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			2	353	-	Prostate(682;0.19)		35					C9JV41|Q658X3	Splice_Site	SNP	ENST00000359470.5	37	c.105_splice	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485449	0.26686	.	.	ENSG00000182795	ENST00000359470	T	0.09817	2.94	5.63	4.62	0.57501	.	0.678973	0.15634	N	0.252232	T	0.19805	0.0476	L	0.54323	1.7	0.80722	D	1	D	0.59767	0.986	P	0.59703	0.862	T	0.00722	-1.1594	10	0.24483	T	0.36	-10.6572	7.71	0.28671	0.2112:0.0:0.7887:0.0	.	35	Q9BW04	SARG_HUMAN	Y	35	ENSP00000352447:S35Y	ENSP00000352447:S35Y	S	-	2	0	C1orf116	205267463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.757000	0.38400	2.630000	0.89119	0.655000	0.94253	TCT		0.637	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115	Missense_Mutation	6	72	1	0	5.9392e-07	1	6.91975e-07	6	72				
C5orf42	65250	broad.mit.edu	37	5	37169450	37169450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37169450G>A	ENST00000508244.1	-	33	6769	c.6676C>T	c.(6676-6678)Cct>Tct	p.P2226S	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2226S|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1106S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2226						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCAAAGGAAAGCCATCA	0.423																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3316-3318)Cct>Tct		chromosome 5 open reading frame 42							70.0	73.0	72.0					5																	37169450		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169450G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6676C>T	5.37:g.37169450G>A	ENSP00000421690:p.Pro2226Ser					C5orf42_ENST00000425232.2_Missense_Mutation_p.P2226S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2226S	p.P1106S			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	6903	-	all_lung(31;0.000616)		2226					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3316C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585322	0.86748	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.68331	-0.05;-0.05;-0.32;-0.23	5.53	5.53	0.82687	.	0.081616	0.45867	D	0.000325	T	0.80019	0.4547	L	0.58810	1.83	0.44728	D	0.997726	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81395	-0.0952	10	0.87932	D	0	.	17.6463	0.88149	0.0:0.0:1.0:0.0	.	2226;1106	E9PH94;Q9H799	.;CE042_HUMAN	S	2226;2226;1106;1274;1106	ENSP00000421690:P2226S;ENSP00000389014:P2226S;ENSP00000274258:P1106S;ENSP00000424223:P1274S	ENSP00000274258:P1106S	P	-	1	0	C5orf42	37205207	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	4.680000	0.61656	2.587000	0.87381	0.655000	0.94253	CCT		0.423	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		32	59	0	0	0	1	0	32	59				
SVEP1	79987	broad.mit.edu	37	9	113132260	113132260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113132260C>T	ENST00000401783.2	-	47	10973	c.10637G>A	c.(10636-10638)tGt>tAt	p.C3546Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.C3523Y|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1472Y|RNU6-1039P_ENST00000383931.1_RNA	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3546	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGTCTTACACATTTTCCACC	0.368																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(10636-10638)tGt>tAt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							84.0	77.0	79.0					9																	113132260		1850	4097	5947	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113132260C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10637G>A	9.37:g.113132260C>T	ENSP00000384917:p.Cys3546Tyr					SVEP1_ENST00000374469.1_Missense_Mutation_p.C3523Y|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1472Y	p.C3546Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			47	10973	-			3546			EGF-like 9.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.10637G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802047	0.90538	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;D	0.99298	-5.71;-5.71;-5.71	5.81	5.81	0.92471	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97885	1.0294	10	0.87932	D	0	.	20.0643	0.97702	0.0:1.0:0.0:0.0	.	3546	Q4LDE5	SVEP1_HUMAN	Y	3546;3523;1472	ENSP00000384917:C3546Y;ENSP00000363593:C3523Y;ENSP00000297826:C1472Y	ENSP00000297826:C1472Y	C	-	2	0	SVEP1	112172081	1.000000	0.71417	0.938000	0.37757	0.915000	0.54546	6.744000	0.74854	2.737000	0.93849	0.650000	0.86243	TGT		0.368	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	9	0	0	0	1	0	8	9				
RHO	6010	broad.mit.edu	37	3	129252543	129252543	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129252543C>T	ENST00000296271.3	+	5	1123	c.1029C>T	c.(1027-1029)agC>agT	p.S343S		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	343					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CGGAGACGAGCCAGGTGGCCC	0.627																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			0				breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1027-1029)agC>agT		rhodopsin	Halothane(DB01159)						96.0	91.0	92.0					3																	129252543		2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129252543C>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.1029C>T	3.37:g.129252543C>T							p.S343S	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	5	1123	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	343					Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.1029C>T	CCDS3063.1																																																																																				0.627	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		33	32	0	0	0	1	0	33	32				
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552																																						ENST00000372113.4																			3	Substitution - Missense(3)	p.G414L(2)|p.G414V(1)	lung(3)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1240-1242)gGa>gTa		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							115.0	108.0	110.0					10																	85982088		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982088C>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1241G>T	10.37:g.85982088C>A	ENSP00000361185:p.Gly414Val					LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	p.G414V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1246	-			414			Fibronectin type-III.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1241G>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710737	0.48517	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.21031	2.03;2.03	4.88	4.88	0.63580	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.51888	-0.8648	10	0.72032	D	0.01	.	17.1624	0.86807	0.0:1.0:0.0:0.0	.	424;414	B7ZME6;A6NDA9	.;LRIT2_HUMAN	V	414;424	ENSP00000361185:G414V;ENSP00000438264:G424V	ENSP00000361185:G414V	G	-	2	0	LRIT2	85972068	1.000000	0.71417	0.026000	0.17262	0.013000	0.08279	7.064000	0.76721	2.415000	0.81967	0.557000	0.71058	GGA		0.552	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		11	78	1	0	4.68919e-08	1	5.58064e-08	11	78				
XKR8	55113	broad.mit.edu	37	1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(310-312)Cgg>Tgg		XK, Kell blood group complex subunit-related family, member 8							44.0	43.0	43.0					1																	28290024		2201	4298	6499	SO:0001583	missense	55113					integral to membrane		g.chr1:28290024C>T	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.310C>T	1.37:g.28290024C>T	ENSP00000362991:p.Arg104Trp						p.R104W	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	2	918	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	104						Missense_Mutation	SNP	ENST00000373884.5	37	c.310C>T	CCDS315.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615418	0.28801	.	.	ENSG00000158156	ENST00000373884	T	0.64085	-0.08	5.55	3.49	0.39957	.	1.062310	0.07246	N	0.865113	T	0.59595	0.2205	M	0.66939	2.045	0.09310	N	1	B	0.20780	0.048	B	0.17098	0.017	T	0.49322	-0.8952	10	0.38643	T	0.18	.	7.1428	0.25566	0.1641:0.6606:0.0973:0.078	.	104	Q9H6D3	XKR8_HUMAN	W	104	ENSP00000362991:R104W	ENSP00000362991:R104W	R	+	1	2	XKR8	28162611	0.000000	0.05858	0.595000	0.28798	0.874000	0.50279	0.490000	0.22403	1.368000	0.46115	0.650000	0.86243	CGG		0.607	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		13	34	0	0	0	1	0	13	34				
FBXO25	26260	broad.mit.edu	37	8	381365	381365	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:381365A>G	ENST00000276326.5	+	3	278	c.159A>G	c.(157-159)gaA>gaG	p.E53E	FBXO25_ENST00000350302.3_Silent_p.E53E|FBXO25_ENST00000382824.1_Missense_Mutation_p.K3R|FBXO25_ENST00000352684.2_Missense_Mutation_p.K3R	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	53	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AAGATGGAGAAATATTCAATA	0.269																																						ENST00000352684.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(7-9)aAa>aGa		F-box protein 25							41.0	46.0	44.0					8																	381365		2192	4267	6459	SO:0001819	synonymous_variant	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:381365A>G	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.159A>G	8.37:g.381365A>G						FBXO25_ENST00000350302.3_Silent_p.E53E|FBXO25_ENST00000382824.1_Missense_Mutation_p.K3R|FBXO25_ENST00000276326.5_Silent_p.E53E	p.K3R	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	3	425	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	0			Interaction with beta-actin.		Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	c.8A>G	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081744	0.36758	.	.	ENSG00000147364	ENST00000352684;ENST00000382824	.	.	.	4.22	1.56	0.23342	.	.	.	.	.	T	0.27241	0.0668	.	.	.	0.19300	N	0.99998	B	0.02656	0.0	B	0.04013	0.001	T	0.30179	-0.9987	7	0.87932	D	0	-20.8292	1.748	0.02966	0.5683:0.1662:0.1034:0.1621	.	3	Q8TCJ0-3	.	R	3	.	ENSP00000341345:K3R	K	+	2	0	FBXO25	371365	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	0.406000	0.21032	0.615000	0.30124	0.369000	0.22263	AAA		0.269	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		6	39	0	0	0	1	0	6	39				
CACNA1D	776	broad.mit.edu	37	3	53835325	53835325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53835325G>A	ENST00000350061.5	+	42	5792	c.5281G>A	c.(5281-5283)Gcc>Acc	p.A1761T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A1781T|CACNA1D_ENST00000544977.1_Missense_Mutation_p.A140T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1746T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1761					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCAATAATGCCAATATGTC	0.468																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5341-5343)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						82.0	73.0	76.0					3																	53835325		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53835325G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5281G>A	3.37:g.53835325G>A	ENSP00000288133:p.Ala1761Thr					CACNA1D_ENST00000350061.5_Missense_Mutation_p.A1761T|CACNA1D_ENST00000544977.1_Missense_Mutation_p.A140T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1746T	p.A1781T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	43	5459	+			1761					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5341G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934572	0.73442	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.96856	-4.13;-4.15;-4.12;-4.13	4.3	4.3	0.51218	.	3.524980	0.01570	N	0.020538	D	0.96513	0.8862	M	0.71206	2.165	0.58432	D	0.999999	B;B;B;B	0.28900	0.079;0.003;0.002;0.227	B;B;B;B	0.34138	0.069;0.015;0.017;0.176	T	0.77749	-0.2471	10	0.15066	T	0.55	.	17.6447	0.88145	0.0:0.0:1.0:0.0	.	1746;1454;1761;1781	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	1761;1781;1746;1454;140	ENSP00000288133:A1761T;ENSP00000288139:A1781T;ENSP00000409174:A1746T;ENSP00000418014:A1454T	ENSP00000288139:A1781T	A	+	1	0	CACNA1D	53810365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.056000	0.93881	2.334000	0.79466	0.462000	0.41574	GCC		0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		20	30	0	0	0	1	0	20	30				
DISC1	27185	broad.mit.edu	37	1	231837741	231837741	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231837741A>G	ENST00000602281.1	+	3	1141	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G	DISC1_ENST00000439617.2_Missense_Mutation_p.D363G|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.D363G|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.D363G|DISC1_ENST00000535983.1_Missense_Mutation_p.D363G|DISC1_ENST00000366636.4_Missense_Mutation_p.D363G|DISC1_ENST00000539444.1_Missense_Mutation_p.D363G|DISC1_ENST00000602873.1_Intron	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	363	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTTCAGGAAGATGCAGTTGAG	0.274																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1087-1089)gAt>gGt		disrupted in schizophrenia 1							136.0	139.0	138.0					1																	231837741		2202	4299	6501	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231837741A>G	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1088A>G	1.37:g.231837741A>G	ENSP00000473425:p.Asp363Gly					DISC1_ENST00000537876.1_Missense_Mutation_p.D363G|DISC1_ENST00000317586.4_Intron|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.D363G|DISC1_ENST00000366636.4_Missense_Mutation_p.D363G|DISC1_ENST00000539444.1_Missense_Mutation_p.D363G|DISC1_ENST00000602281.1_Missense_Mutation_p.D363G|DISC1_ENST00000366633.3_Missense_Mutation_p.D363G	p.D363G	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			3	1141	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	363			Interaction with TRAF3IP1.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.1088A>G	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	A	7.041	0.562505	0.13498	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.56	2.17	0.27698	.	0.325553	0.35936	N	0.002896	T	0.16685	0.0401	N	0.22421	0.69	0.22710	N	0.998824	B;P;P;P;P;P;P;P;P;P;P;P;P;P;B;P;P;B;P	0.44044	0.029;0.628;0.825;0.628;0.628;0.825;0.628;0.628;0.628;0.628;0.599;0.599;0.628;0.622;0.372;0.599;0.622;0.372;0.628	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.40375	0.015;0.184;0.255;0.254;0.083;0.327;0.184;0.184;0.083;0.184;0.26;0.26;0.184;0.164;0.121;0.179;0.164;0.121;0.184	T	0.07558	-1.0766	10	0.59425	D	0.04	-1.7904	9.5623	0.39378	0.6206:0.3794:0.0:0.0	.	363;363;363;363;363;363;363;363;363;363;363;363;363;363;363;363;363;363;363	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	G	363;363;363;363;363;363;363;363;363;363;363;214	ENSP00000403888:D363G;ENSP00000355596:D363G;ENSP00000443996:D363G;ENSP00000440909:D363G;ENSP00000355593:D363G;ENSP00000440953:D363G;ENSP00000295051:D363G;ENSP00000441193:D363G	ENSP00000295051:D363G	D	+	2	0	DISC1	229904364	1.000000	0.71417	0.265000	0.24526	0.274000	0.26718	1.772000	0.38552	0.251000	0.21505	-0.396000	0.06452	GAT		0.274	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		7	43	0	0	0	1	0	7	43				
LZTS2	84445	broad.mit.edu	37	10	102763514	102763514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102763514C>A	ENST00000370220.1	+	2	3722	c.659C>A	c.(658-660)tCt>tAt	p.S220Y	LZTS2_ENST00000370223.3_Missense_Mutation_p.S220Y					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTATCCGACTCTGGCCGAAAC	0.647																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(658-660)tCt>tAt		leucine zipper, putative tumor suppressor 2							82.0	98.0	92.0					10																	102763514		2203	4300	6503	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763514C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.659C>A	10.37:g.102763514C>A	ENSP00000359240:p.Ser220Tyr					LZTS2_ENST00000370223.3_Missense_Mutation_p.S220Y	p.S220Y			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3722	+			220			Required for centrosomal localization (By similarity).|Ser-rich.			Missense_Mutation	SNP	ENST00000370220.1	37	c.659C>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085299	0.94100	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.52983	0.64;0.64	5.12	5.12	0.69794	.	0.056472	0.64402	D	0.000001	T	0.70343	0.3213	M	0.80332	2.49	0.58432	D	0.999996	D	0.69078	0.997	D	0.65573	0.936	T	0.75213	-0.3397	10	0.87932	D	0	-16.6393	18.5226	0.90959	0.0:1.0:0.0:0.0	.	220	Q9BRK4	LZTS2_HUMAN	Y	220	ENSP00000359243:S220Y;ENSP00000359240:S220Y	ENSP00000314437:S220Y	S	+	2	0	LZTS2	102753504	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.036000	0.70948	2.539000	0.85634	0.561000	0.74099	TCT		0.647	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		9	124	1	0	0.0477658	1	0.0488009	9	124				
ACIN1	22985	broad.mit.edu	37	14	23528361	23528361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23528361C>T	ENST00000262710.1	-	19	4349	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000397341.3_Missense_Mutation_p.R583H|ACIN1_ENST00000338631.6_Missense_Mutation_p.R614H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1283H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1328H|ACIN1_ENST00000357481.2_Missense_Mutation_p.R583H|ACIN1_ENST00000557515.1_Missense_Mutation_p.R582H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1301H|CDH24_ENST00000487137.2_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1341	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCAGCTAGCGGCGCCCACC	0.652											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4021-4023)cGc>cAc		apoptotic chromatin condensation inducer 1							56.0	50.0	52.0					14																	23528361		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528361C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.4022G>A	14.37:g.23528361C>T	ENSP00000262710:p.Arg1341His		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000605057.1_Missense_Mutation_p.R1283H|ACIN1_ENST00000357481.2_Missense_Mutation_p.R583H|ACIN1_ENST00000397341.3_Missense_Mutation_p.R583H|ACIN1_ENST00000557515.1_Missense_Mutation_p.R582H|ACIN1_ENST00000338631.6_Missense_Mutation_p.R614H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1301H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1328H	p.R1341H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4349	-	all_cancers(95;1.36e-05)		1341			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.4022G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414974	0.62511	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T	0.27402	1.68;1.73;1.67	4.67	3.78	0.43462	.	0.000000	0.41712	D	0.000837	T	0.20495	0.0493	N	0.19112	0.55	0.36421	D	0.864349	B;B;B;B;B	0.25169	0.119;0.072;0.027;0.007;0.007	B;B;B;B;B	0.19946	0.027;0.012;0.007;0.001;0.001	T	0.18618	-1.0331	10	0.87932	D	0	.	12.0733	0.53628	0.0:0.9142:0.0:0.0858	.	1328;1341;1301;614;583	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	H	582;614;583;1341;1301;583;1328	ENSP00000262710:R1341H;ENSP00000405677:R1301H;ENSP00000451328:R1328H	ENSP00000262710:R1341H	R	-	2	0	ACIN1	22598201	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.811000	0.55620	1.321000	0.45227	0.563000	0.77884	CGC		0.652	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		4	47	0	0	0	1	0	4	47				
KIF13A	63971	broad.mit.edu	37	6	17850612	17850612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17850612C>T	ENST00000259711.6	-	8	764	c.659G>A	c.(658-660)cGc>cAc	p.R220H	KIF13A_ENST00000378814.5_Missense_Mutation_p.R220H|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220H|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220H|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCATGGGAGCGGCTGCTTTC	0.468																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(658-660)cGc>cAc		kinesin family member 13A							110.0	111.0	111.0					6																	17850612		1952	4132	6084	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17850612C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.659G>A	6.37:g.17850612C>T	ENSP00000259711:p.Arg220His					KIF13A_ENST00000259711.6_Missense_Mutation_p.R220H|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220H|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220H|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220H	p.R220H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		8	658	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	220			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.659G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537010	0.96460	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.78	5.78	0.91487	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	H	0.98048	4.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.97406	0.9999	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	220;220;220;220	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	H	220	ENSP00000368091:R220H;ENSP00000259711:R220H;ENSP00000368103:R220H;ENSP00000368120:R220H;ENSP00000368093:R220H	ENSP00000259711:R220H	R	-	2	0	KIF13A	17958591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.724000	0.93272	0.563000	0.77884	CGC		0.468	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			21	30	0	0	0	1	0	21	30				
ATP5A1	498	broad.mit.edu	37	18	43668133	43668133	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43668133A>G	ENST00000398752.6	-	6	862	c.741T>C	c.(739-741)gtT>gtC	p.V247V	ATP5A1_ENST00000282050.2_Silent_p.V247V|ATP5A1_ENST00000593152.2_Silent_p.V197V|ATP5A1_ENST00000590665.1_Silent_p.V225V	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	247					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GACCAATAGCAACATAAATAC	0.353																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(589-591)gtT>gtC		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							123.0	116.0	118.0					18																	43668133		2203	4299	6502	SO:0001819	synonymous_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43668133A>G	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.741T>C	18.37:g.43668133A>G						ATP5A1_ENST00000282050.2_Silent_p.V247V|ATP5A1_ENST00000398752.6_Silent_p.V247V|ATP5A1_ENST00000590665.1_Silent_p.V225V	p.V197V	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			6	1130	-			247					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Silent	SNP	ENST00000398752.6	37	c.591T>C	CCDS11927.1																																																																																				0.353	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		55	88	0	0	0	1	0	55	88				
FAM179B	23116	broad.mit.edu	37	14	45432170	45432170	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45432170T>C	ENST00000361577.3	+	1	760	c.546T>C	c.(544-546)ccT>ccC	p.P182P	FAM179B_ENST00000361462.2_Silent_p.P182P|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Silent_p.P182P|KLHL28_ENST00000355081.2_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	182										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CACTTTTGCCTCAACTAGTTG	0.537																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(544-546)ccT>ccC		family with sequence similarity 179, member B							82.0	89.0	87.0					14																	45432170		2203	4300	6503	SO:0001819	synonymous_variant	23116						binding	g.chr14:45432170T>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.546T>C	14.37:g.45432170T>C						FAM179B_ENST00000361577.3_Silent_p.P182P|FAM179B_ENST00000382233.2_Silent_p.P182P	p.P182P			Q9Y4F4	F179B_HUMAN			1	729	+			182					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.546T>C	CCDS9681.1																																																																																				0.537	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		8	95	0	0	0	1	0	8	95				
KIF4A	24137	broad.mit.edu	37	X	69637830	69637830	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69637830G>T	ENST00000374403.3	+	29	3430	c.3348G>T	c.(3346-3348)aaG>aaT	p.K1116N		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1116	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACCCCACAAAGTGTCGGAACC	0.532																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(3346-3348)aaG>aaT		kinesin family member 4A							145.0	99.0	114.0					X																	69637830		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69637830G>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3348G>T	X.37:g.69637830G>T	ENSP00000363524:p.Lys1116Asn						p.K1116N	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			29	3430	+			1116			Globular.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.3348G>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	g	14.51	2.557776	0.45590	.	.	ENSG00000090889	ENST00000374403;ENST00000544650	T	0.69926	-0.44	5.3	1.57	0.23409	.	0.000000	0.64402	D	0.000004	T	0.71676	0.3368	M	0.66939	2.045	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.67369	-0.5688	9	.	.	.	.	8.2007	0.31424	0.4206:0.0:0.5794:0.0	.	1116	O95239	KIF4A_HUMAN	N	1116;418	ENSP00000363524:K1116N	.	K	+	3	2	KIF4A	69554555	1.000000	0.71417	0.936000	0.37596	0.355000	0.29361	0.420000	0.21263	-0.005000	0.14395	-0.303000	0.09236	AAG		0.532	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		23	34	1	0	1.85244e-09	1	2.25385e-09	23	34				
ARHGAP11A	9824	broad.mit.edu	37	15	32917784	32917784	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32917784A>T	ENST00000361627.3	+	6	1534	c.812A>T	c.(811-813)gAa>gTa	p.E271V	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E82V|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E82V|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.E271V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	271					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAAGAAGGTGAATATGAAACT	0.423																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(811-813)gAa>gTa		Rho GTPase activating protein 11A							118.0	120.0	120.0					15																	32917784		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32917784A>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.812A>T	15.37:g.32917784A>T	ENSP00000355090:p.Glu271Val					ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E82V|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E82V	p.E271V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	6	1534	+		all_lung(180;1.3e-11)	271					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.812A>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	15.41	2.825567	0.50739	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10960	2.82	5.07	5.07	0.68467	.	0.610700	0.15391	N	0.264840	T	0.15089	0.0364	L	0.56769	1.78	0.32161	N	0.582932	B;B	0.33212	0.024;0.402	B;B	0.32805	0.019;0.153	T	0.06625	-1.0816	10	0.62326	D	0.03	.	15.1127	0.72372	1.0:0.0:0.0:0.0	.	271;82	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	V	271;82	ENSP00000355090:E271V	ENSP00000355090:E271V	E	+	2	0	ARHGAP11A	30705076	1.000000	0.71417	0.878000	0.34440	0.972000	0.66771	5.964000	0.70379	2.019000	0.59389	0.533000	0.62120	GAA		0.423	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		13	140	0	0	0	1	0	13	140				
ARID4A	5926	broad.mit.edu	37	14	58831971	58831971	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831971C>A	ENST00000355431.3	+	20	3537	c.3164C>A	c.(3163-3165)tCt>tAt	p.S1055Y	ARID4A_ENST00000395168.3_Missense_Mutation_p.S1055Y|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1055Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1055Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1055					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATGTTGCCTCTGGTACCTGT	0.378																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3163-3165)tCt>tAt		AT rich interactive domain 4A (RBP1-like)							68.0	69.0	69.0					14																	58831971		2202	4296	6498	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831971C>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3164C>A	14.37:g.58831971C>A	ENSP00000347602:p.Ser1055Tyr					ARID4A_ENST00000431317.2_Missense_Mutation_p.S1055Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1055Y|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1055Y	p.S1055Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	3537	+			1055					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3164C>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303520	0.40795	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.38077	2.14;1.8;1.48;1.8;1.16	5.46	5.46	0.80206	.	0.346678	0.27068	N	0.021095	T	0.55545	0.1927	M	0.66939	2.045	0.44555	D	0.997519	D;P;D	0.63880	0.993;0.739;0.978	P;B;P	0.56700	0.804;0.251;0.804	T	0.58983	-0.7539	10	0.87932	D	0	-0.5914	19.3066	0.94165	0.0:1.0:0.0:0.0	.	1055;1055;1055	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Y	1055;1055;1055;1055;733	ENSP00000347602:S1055Y;ENSP00000344556:S1055Y;ENSP00000378597:S1055Y;ENSP00000397368:S1055Y;ENSP00000416053:S733Y	ENSP00000344556:S1055Y	S	+	2	0	ARID4A	57901724	0.999000	0.42202	0.011000	0.14972	0.393000	0.30537	6.535000	0.73838	2.574000	0.86865	0.557000	0.71058	TCT		0.378	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		4	79	1	0	1.23904e-05	1	1.39987e-05	4	79				
CNST	163882	broad.mit.edu	37	1	246805289	246805289	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246805289T>C	ENST00000366513.4	+	8	1156	c.887T>C	c.(886-888)tTa>tCa	p.L296S	CNST_ENST00000366512.3_Missense_Mutation_p.L296S|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	296					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCCACGCAGTTACTAGTGTCT	0.408																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(886-888)tTa>tCa		consortin, connexin sorting protein							65.0	66.0	65.0					1																	246805289		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246805289T>C	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.887T>C	1.37:g.246805289T>C	ENSP00000355470:p.Leu296Ser					CNST_ENST00000366512.3_Missense_Mutation_p.L296S|CNST_ENST00000483271.1_3'UTR	p.L296S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			8	1156	+			296					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.887T>C	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	t	11.23	1.576742	0.28092	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.26067	1.83;1.76	5.8	3.42	0.39159	.	0.399468	0.21413	N	0.074958	T	0.35913	0.0948	M	0.71581	2.175	0.20074	N	0.999938	P;P	0.52842	0.956;0.717	P;B	0.51016	0.656;0.243	T	0.17410	-1.0370	10	0.54805	T	0.06	-11.6378	8.4869	0.33076	0.0:0.1568:0.0:0.8432	.	296;296	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	S	296	ENSP00000355470:L296S;ENSP00000355469:L296S	ENSP00000355469:L296S	L	+	2	0	CNST	244871912	0.252000	0.23972	0.002000	0.10522	0.014000	0.08584	1.967000	0.40491	0.434000	0.26340	0.473000	0.43528	TTA		0.408	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		6	18	0	0	0	1	0	6	18				
ZNF175	7728	broad.mit.edu	37	19	52091117	52091117	+	Silent	SNP	C	C	A	rs140917490		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091117C>A	ENST00000262259.2	+	5	1891	c.1533C>A	c.(1531-1533)acC>acA	p.T511T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	511					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGAAAAACCTTCACCCAAA	0.413																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1531-1533)acC>acA		zinc finger protein 175							46.0	44.0	44.0					19																	52091117		2203	4300	6503	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091117C>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1533C>A	19.37:g.52091117C>A						ZNF175_ENST00000436511.2_Intron	p.T511T	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1891	+		all_neural(266;0.0299)	511					A8K9H2	Silent	SNP	ENST00000262259.2	37	c.1533C>A	CCDS12837.1																																																																																				0.413	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		15	25	1	0	1.5739e-10	1	1.9432e-10	15	25				
REC114	283677	broad.mit.edu	37	15	73848684	73848684	+	Silent	SNP	G	G	A	rs369531036		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73848684G>A	ENST00000331090.6	+	5	616	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C15orf60_ENST00000560581.1_Silent_p.A168A	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		196					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTGTAACAGCGGGCACAGGCG	0.463																																						ENST00000331090.6																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						c.(586-588)gcG>gcA		chromosome 15 open reading frame 60		G		1,4075		0,1,2037	87.0	95.0	92.0		588	-10.1	0.0	15		92	1,8383		0,1,4191	no	coding-synonymous	C15orf60	NM_001042367.1		0,2,6228	AA,AG,GG		0.0119,0.0245,0.0161		196/267	73848684	2,12458	2038	4192	6230	SO:0001819	synonymous_variant	283677							g.chr15:73848684G>A																												ENST00000331090.6:c.588G>A	15.37:g.73848684G>A						C15orf60_ENST00000560581.1_Silent_p.A168A	p.A196A	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN			5	616	+			196						Silent	SNP	ENST00000331090.6	37	c.588G>A	CCDS45296.1																																																																																				0.463	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			4	43	0	0	0	1	0	4	43				
DENND5A	23258	broad.mit.edu	37	11	9172281	9172281	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9172281G>T	ENST00000328194.3	-	14	2872	c.2552C>A	c.(2551-2553)tCt>tAt	p.S851Y	DENND5A_ENST00000527700.1_Missense_Mutation_p.S194Y|DENND5A_ENST00000530044.1_Missense_Mutation_p.S851Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	851	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGGCATCAGACTTCCTACG	0.438																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2551-2553)tCt>tAt		DENN/MADD domain containing 5A							145.0	130.0	135.0					11																	9172281		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9172281G>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2552C>A	11.37:g.9172281G>T	ENSP00000328524:p.Ser851Tyr					DENND5A_ENST00000527700.1_Missense_Mutation_p.S194Y|DENND5A_ENST00000530044.1_Missense_Mutation_p.S851Y	p.S851Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			14	2872	-			851			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2552C>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500381	0.85176	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.29917	1.55;1.55;1.55	5.53	5.53	0.82687	RUN (2);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.73598	2.24	0.80722	D	1	D;P	0.53151	0.958;0.858	P;P	0.61070	0.883;0.732	T	0.57900	-0.7731	10	0.66056	D	0.02	.	19.4553	0.94884	0.0:0.0:1.0:0.0	.	851;851	E9PS91;Q6IQ26	.;DEN5A_HUMAN	Y	851;851;194	ENSP00000328524:S851Y;ENSP00000435866:S851Y;ENSP00000432549:S194Y	ENSP00000328524:S851Y	S	-	2	0	DENND5A	9128857	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.969000	0.87988	2.601000	0.87937	0.655000	0.94253	TCT		0.438	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		19	39	1	0	1.2644e-06	1	1.46818e-06	19	39				
PDCD4	27250	broad.mit.edu	37	10	112641242	112641242	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112641242T>A	ENST00000280154.7	+	3	569	c.295T>A	c.(295-297)Ttg>Atg	p.L99M	PDCD4_ENST00000393104.2_Missense_Mutation_p.L88M	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	99					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAAGGGAAGGTTGCTGGATAG	0.483																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(262-264)Ttg>Atg		programmed cell death 4 (neoplastic transformation inhibitor)							66.0	73.0	70.0					10																	112641242		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641242T>A	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.295T>A	10.37:g.112641242T>A	ENSP00000280154:p.Leu99Met					PDCD4_ENST00000280154.7_Missense_Mutation_p.L99M	p.L88M	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	622	+		Breast(234;0.0848)|Lung NSC(174;0.238)	99					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.262T>A	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560522	0.45590	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	T;T;T	0.33438	1.43;1.43;1.41	5.72	3.38	0.38709	.	0.071498	0.56097	D	0.000038	T	0.28433	0.0703	L	0.50333	1.59	0.51482	D	0.999924	P;P;P	0.43477	0.808;0.664;0.664	P;B;B	0.45037	0.467;0.293;0.201	T	0.02805	-1.1108	10	0.32370	T	0.25	-6.6197	5.6815	0.17778	0.0:0.275:0.1328:0.5922	.	85;99;88	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	M	99;88;85	ENSP00000280154:L99M;ENSP00000376816:L88M;ENSP00000394668:L85M	ENSP00000280154:L99M	L	+	1	2	PDCD4	112631232	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.192000	0.32150	0.514000	0.28300	0.528000	0.53228	TTG		0.483	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		24	43	0	0	0	1	0	24	43				
AMER1	139285	broad.mit.edu	37	X	63410721	63410721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410721G>A	ENST00000330258.3	-	2	2718	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	816					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TCCCCATCCCGTTCCACATCA	0.502																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2446-2448)Cgg>Tgg		APC membrane recruitment protein 1							43.0	40.0	41.0					X																	63410721		2203	4299	6502	SO:0001583	missense	139285							g.chrX:63410721G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2446C>T	X.37:g.63410721G>A	ENSP00000329117:p.Arg816Trp					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.R816W	NM_152424.3	NP_689637.3					2	2718	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2446C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451178	0.43531	.	.	ENSG00000184675	ENST00000330258	T	0.49720	0.77	5.0	2.16	0.27623	.	.	.	.	.	T	0.36963	0.0986	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.06481	-1.0824	8	.	.	.	-8.0046	11.2476	0.49006	0.0:0.0:0.521:0.4789	.	816	Q5JTC6	F123B_HUMAN	W	816	ENSP00000329117:R816W	.	R	-	1	2	FAM123B	63327446	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	1.468000	0.35332	0.203000	0.20529	-0.307000	0.09154	CGG		0.502	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		14	14	0	0	0	1	0	14	14				
NMNAT2	23057	broad.mit.edu	37	1	183273936	183273936	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183273936C>T	ENST00000287713.6	-	2	420				NMNAT2_ENST00000294868.4_De_novo_Start_OutOfFrame	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GAGAGTAACACAAAGTGGTGC	0.488																																						ENST00000294868.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18								nicotinamide nucleotide adenylyltransferase 2							105.0	87.0	92.0					1																	183273936		692	1591	2283	SO:0001627	intron_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183273936C>T	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.86-11008G>A	1.37:g.183273936C>T						NMNAT2_ENST00000287713.6_Intron		NM_170706.3	NP_733820.1	Q9BZQ4	NMNA2_HUMAN			0	73	-								O75067|Q5T1Q3|Q8WU99|Q96QW1	Translation_Start_Site	SNP	ENST00000287713.6	37		CCDS1353.1																																																																																				0.488	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			4	40	0	0	0	1	0	4	40				
CSNK1G2	1455	broad.mit.edu	37	19	1980185	1980185	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1980185C>T	ENST00000255641.8	+	12	1726	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	411					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAAATCGCTGCAGCGACA	0.657																																					Ovarian(91;880 1392 21236 36928 37598)	ENST00000255641.8																			0				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(1231-1233)Ctg>Ttg		casein kinase 1, gamma 2							52.0	54.0	54.0					19																	1980185		2203	4300	6503	SO:0001819	synonymous_variant	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1980185C>T	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.1231C>T	19.37:g.1980185C>T							p.L411L	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1726	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	411					B5BU42|O00704|Q8WUB1	Silent	SNP	ENST00000255641.8	37	c.1231C>T	CCDS12077.1																																																																																				0.657	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319		23	29	0	0	0	1	0	23	29				
SNRNP70	6625	broad.mit.edu	37	19	49593597	49593597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593597G>A	ENST00000598441.1	+	3	421	c.197G>A	c.(196-198)cGc>cAc	p.R66H	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R66H			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	66					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGAGAGGAGCGCATGGAGAGG	0.527																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(196-198)cGc>cAc		small nuclear ribonucleoprotein 70kDa (U1)							111.0	97.0	102.0					19																	49593597		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49593597G>A		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.197G>A	19.37:g.49593597G>A	ENSP00000472998:p.Arg66His					SNRNP70_ENST00000598441.1_Missense_Mutation_p.R66H	p.R66H	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			3	393	+			66					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.197G>A	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331536	0.95733	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T	0.06142	3.34	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.27673	-1.0067	10	0.72032	D	0.01	-13.713	19.0174	0.92900	0.0:0.0:1.0:0.0	.	66;66	P08621;P08621-2	RU17_HUMAN;.	H	66	ENSP00000221448:R66H	ENSP00000221448:R66H	R	+	2	0	SNRNP70	54285409	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.695000	0.91298	2.873000	0.98535	0.561000	0.74099	CGC		0.527	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		10	35	0	0	0	1	0	10	35				
ANXA10	11199	broad.mit.edu	37	4	169105788	169105788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169105788C>T	ENST00000359299.3	+	11	1048	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	288						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CATAAGGAAACGATACAAAGA	0.363																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(862-864)Cga>Tga		annexin A10							167.0	172.0	170.0					4																	169105788		2203	4300	6503	SO:0001587	stop_gained	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169105788C>T	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.862C>T	4.37:g.169105788C>T	ENSP00000352248:p.Arg288*						p.R288*	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	11	1048	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	288					Q96IQ5|Q9UJV4	Nonsense_Mutation	SNP	ENST00000359299.3	37	c.862C>T	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139605	0.77775	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	.	.	.	5.84	-2.04	0.07343	.	0.228496	0.30392	N	0.009734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	5.4344	0.16472	0.394:0.3546:0.0:0.2515	.	.	.	.	X	288	.	ENSP00000352248:R288X	R	+	1	2	ANXA10	169342363	0.627000	0.27129	0.008000	0.14137	0.491000	0.33493	0.072000	0.14617	-0.108000	0.12066	0.655000	0.94253	CGA		0.363	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		45	89	0	0	0	1	0	45	89				
KRT6B	3854	broad.mit.edu	37	12	52844333	52844333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52844333C>A	ENST00000252252.3	-	2	659	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	204	Linker 1.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCTCACAGTCTTGGTGCCCT	0.577																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(610-612)aaG>aaT		keratin 6B							76.0	79.0	78.0					12																	52844333		2203	4297	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52844333C>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.612G>T	12.37:g.52844333C>A	ENSP00000252252:p.Lys204Asn						p.K204N	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	2	659	-			204			Linker 1.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.612G>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	0.780	-0.762801	0.02996	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.91407	-2.84	2.91	1.99	0.26369	Filament (1);	0.461137	0.20180	N	0.097545	T	0.76357	0.3976	N	0.10837	0.055	0.22280	N	0.999232	B	0.20261	0.043	B	0.25140	0.058	T	0.61192	-0.7112	10	0.22706	T	0.39	.	2.8766	0.05632	0.0:0.4849:0.2726:0.2425	.	204	P04259	K2C6B_HUMAN	N	204	ENSP00000252252:K204N	ENSP00000252252:K204N	K	-	3	2	KRT6B	51130600	0.000000	0.05858	0.062000	0.19696	0.896000	0.52359	-0.065000	0.11617	0.771000	0.33359	0.454000	0.30748	AAG		0.577	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		8	70	1	0	0.0477658	1	0.0488009	8	70				
TTN	7273	broad.mit.edu	37	2	179429822	179429822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179429822G>A	ENST00000591111.1	-	276	76338	c.76114C>T	c.(76114-76116)Cga>Tga	p.R25372*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R24445*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R27013*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18140*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R17948*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18073*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25372	Fibronectin type-III 84. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTATCTCGCTTCTCTACA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(81037-81039)Cga>Tga		titin							119.0	117.0	118.0					2																	179429822		1935	4135	6070	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429822G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76114C>T	2.37:g.179429822G>A	ENSP00000465570:p.Arg25372*					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R17948*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R24445*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18073*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18140*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R25372*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R27013*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81261	-			25372			Fibronectin type-III 97.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.81037C>T		.	.	.	.	.	.	.	.	.	.	G	64	82.386680	0.99994	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.88	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8766	0.70498	0.0:0.0:0.7159:0.2841	.	.	.	.	X	24445;17948;18140;18073;17946	.	ENSP00000340554:R18140X	R	-	1	2	TTN	179138068	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.710000	0.54860	1.433000	0.47394	0.555000	0.69702	CGA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	75	0	0	0	1	0	42	75				
PCDHA7	56141	broad.mit.edu	37	5	140215580	140215580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140215580C>T	ENST00000525929.1	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R538C|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGATGCGGG	0.682																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1612-1614)Cgc>Tgc									76.0	84.0	81.0					5																	140215580		2202	4297	6499	SO:0001583	missense	0							g.chr5:140215580C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1612C>T	5.37:g.140215580C>T	ENSP00000436426:p.Arg538Cys					PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R538C|PCDHA4_ENST00000512229.2_Intron	p.R538C	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1612	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1612C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	9.300	1.052868	0.19907	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.54866	0.55;0.55	3.91	3.02	0.34903	Cadherin (5);Cadherin-like (1);	0.000000	0.31660	U	0.007279	T	0.44746	0.1308	L	0.58925	1.835	0.29291	N	0.869373	B;P	0.34800	0.15;0.469	B;B	0.32342	0.144;0.082	T	0.49679	-0.8914	10	0.87932	D	0	.	8.0778	0.30726	0.4925:0.377:0.1305:0.0	.	538;538	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	C	538	ENSP00000436426:R538C;ENSP00000367365:R538C	ENSP00000367365:R538C	R	+	1	0	PCDHA7	140195764	0.000000	0.05858	1.000000	0.80357	0.383000	0.30230	-1.132000	0.03235	0.716000	0.32124	0.313000	0.20887	CGC		0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		40	77	0	0	0	1	0	40	77				
SIM1	6492	broad.mit.edu	37	6	100841384	100841384	+	Missense_Mutation	SNP	C	C	T	rs141685162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841384C>T	ENST00000369208.3	-	11	2331	c.1549G>A	c.(1549-1551)Gct>Act	p.A517T	SIM1_ENST00000262901.4_Missense_Mutation_p.A517T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	517	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGACTGAAGCGATGTGAGGC	0.572																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1549-1551)Gct>Act		single-minded family bHLH transcription factor 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	111.0	105.0	107.0		1549	2.6	0.9	6	dbSNP_134	107	0,8600		0,0,4300	no	missense	SIM1	NM_005068.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	517/767	100841384	1,13005	2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841384C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1549G>A	6.37:g.100841384C>T	ENSP00000358210:p.Ala517Thr					SIM1_ENST00000262901.4_Missense_Mutation_p.A517T	p.A517T			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2331	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	517			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1549G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.098019	0.20552	2.27E-4	0.0	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.36520	1.25;1.25	5.78	2.6	0.31112	Single-minded, C-terminal (2);	0.410543	0.31233	N	0.008003	T	0.05868	0.0153	N	0.12182	0.205	0.29476	N	0.856682	B	0.09022	0.002	B	0.04013	0.001	T	0.37911	-0.9685	10	0.17832	T	0.49	.	6.622	0.22808	0.0:0.5517:0.0:0.4483	.	517	P81133	SIM1_HUMAN	T	517	ENSP00000358210:A517T;ENSP00000262901:A517T	ENSP00000262901:A517T	A	-	1	0	SIM1	100948105	1.000000	0.71417	0.853000	0.33588	0.282000	0.26991	1.300000	0.33436	0.766000	0.33244	0.655000	0.94253	GCT		0.572	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		32	51	0	0	0	1	0	32	51				
ARVCF	421	broad.mit.edu	37	22	19963209	19963209	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19963209C>A	ENST00000263207.3	-	11	2251	c.1960G>T	c.(1960-1962)Ggc>Tgc	p.G654C	ARVCF_ENST00000401994.1_Splice_Site_p.G591C|ARVCF_ENST00000406522.1_Splice_Site_p.G585C|ARVCF_ENST00000406259.1_Splice_Site_p.G648C|ARVCF_ENST00000344269.3_Splice_Site_p.G591C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	654					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCCCACTCACCTTTGGCGGCC	0.587																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.e11+1		armadillo repeat gene deleted in velocardiofacial syndrome							142.0	101.0	115.0					22																	19963209		2202	4300	6502	SO:0001630	splice_region_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19963209C>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1960+1G>T	22.37:g.19963209C>A						ARVCF_ENST00000406259.1_Splice_Site_p.G648_splice|ARVCF_ENST00000344269.3_Splice_Site_p.G591_splice|ARVCF_ENST00000406522.1_Splice_Site_p.G585_splice|ARVCF_ENST00000401994.1_Splice_Site_p.G591_splice	p.G654_splice	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			11	2251	-	Colorectal(54;0.0993)		654					B7WNV2	Splice_Site	SNP	ENST00000263207.3	37	c.1960_splice	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005194	0.74932	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	4.74	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.051857	0.85682	D	0.000000	D	0.92916	0.7746	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93434	0.6788	9	.	.	.	-14.4725	15.6196	0.76796	0.0:1.0:0.0:0.0	.	654;170	O00192;E7EV58	ARVC_HUMAN;.	C	654;591;591;585;648	ENSP00000263207:G654C;ENSP00000342042:G591C;ENSP00000384341:G591C;ENSP00000384732:G585C;ENSP00000385444:G648C	.	G	-	1	0	ARVCF	18343209	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	4.965000	0.63708	2.631000	0.89168	0.563000	0.77884	GGC		0.587	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670	Missense_Mutation	4	35	1	0	0.00909568	1	0.00947522	4	35				
FAF2	23197	broad.mit.edu	37	5	175913417	175913417	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175913417C>A	ENST00000261942.6	+	3	247	c.194C>A	c.(193-195)cCa>cAa	p.P65Q	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	65					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AACCCACCTCCATCACGACCC	0.493																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)cCa>cAa		Fas associated factor family member 2							152.0	128.0	136.0					5																	175913417		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913417C>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.194C>A	5.37:g.175913417C>A	ENSP00000261942:p.Pro65Gln					FAF2_ENST00000510446.1_3'UTR	p.P65Q	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			3	247	+			65					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.194C>A	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267107	0.95399	.	.	ENSG00000113194	ENST00000510730;ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.39633	1.23	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.71632	-0.4534	9	0.46703	T	0.11	-14.2272	20.6244	0.99512	0.0:1.0:0.0:0.0	.	65	Q96CS3	FAF2_HUMAN	Q	45;65;65	.	ENSP00000261942:P65Q	P	+	2	0	FAF2	175846023	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.365000	0.79537	2.879000	0.98667	0.650000	0.86243	CCA		0.493	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		26	48	1	0	1.66031e-10	1	2.04717e-10	26	48				
CIC	23152	broad.mit.edu	37	19	42797910	42797910	+	Missense_Mutation	SNP	G	G	A	rs367735541		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797910G>A	ENST00000575354.2	+	16	4002	c.3962G>A	c.(3961-3963)cGc>cAc	p.R1321H	CIC_ENST00000160740.3_Missense_Mutation_p.R1319H|CIC_ENST00000572681.2_Missense_Mutation_p.R2228H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCGGAGCGCAAGGAGGCG	0.687			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6682-6684)cGc>cAc		capicua transcriptional repressor		G	HIS/ARG	0,4320		0,0,2160	23.0	32.0	29.0		3962	3.2	1.0	19		29	1,8525		0,1,4262	no	missense	CIC	NM_015125.3	29	0,1,6422	AA,AG,GG		0.0117,0.0,0.0078	benign	1321/1609	42797910	1,12845	2160	4263	6423	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797910G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3962G>A	19.37:g.42797910G>A	ENSP00000458663:p.Arg1321His					CIC_ENST00000160740.3_Missense_Mutation_p.R1319H|CIC_ENST00000575354.2_Missense_Mutation_p.R1321H	p.R2228H			Q96RK0	CIC_HUMAN			17	6751	+		Prostate(69;0.00682)	1321					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.6683G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056968	0.55325	0.0	1.17E-4	ENSG00000079432	ENST00000160740	.	.	.	5.39	3.22	0.36961	.	.	.	.	.	T	0.26159	0.0638	N	0.14661	0.345	0.20638	N	0.999873	B	0.19583	0.037	B	0.10450	0.005	T	0.19160	-1.0314	8	0.87932	D	0	-2.7554	8.7334	0.34514	0.0846:0.1555:0.7598:0.0	.	1321	Q96RK0	CIC_HUMAN	H	1321	.	ENSP00000160740:R1321H	R	+	2	0	CIC	47489750	1.000000	0.71417	0.997000	0.53966	0.521000	0.34408	3.068000	0.50018	1.394000	0.46624	0.591000	0.81541	CGC		0.687	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	24	0	0	0	1	0	21	24				
ANKEF1	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	A	G	rs201360021		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10030593A>G	ENST00000378380.3	+	6	1705	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	459							calcium ion binding (GO:0005509)	p.Y459C(2)									ATTGAGACCTACAAGAATGTC	0.463																																						ENST00000378380.3																			2	Substitution - Missense(2)	p.Y459C(2)	lung(2)								c.(1375-1377)tAc>tGc		ankyrin repeat and EF-hand domain containing 1							123.0	110.0	115.0					20																	10030593		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10030593A>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1376A>G	20.37:g.10030593A>G	ENSP00000367631:p.Tyr459Cys					SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	p.Y459C	NM_198798.1	NP_942093.1					6	1705	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1376A>G	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.428764	0.25726	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.66815	-0.23;-0.23	5.77	4.68	0.58851	Ankyrin repeat-containing domain (1);	0.276824	0.43110	D	0.000608	T	0.57080	0.2029	L	0.53249	1.67	0.33923	D	0.641161	B	0.14012	0.009	B	0.09377	0.004	T	0.61118	-0.7127	10	0.38643	T	0.18	-7.681	6.3739	0.21497	0.7033:0.0:0.0713:0.2255	.	459	Q9NU02	ANKR5_HUMAN	C	459	ENSP00000367644:Y459C;ENSP00000367631:Y459C	ENSP00000367631:Y459C	Y	+	2	0	ANKRD5	9978593	0.949000	0.32298	0.951000	0.38953	0.131000	0.20780	2.176000	0.42500	1.122000	0.41944	0.533000	0.62120	TAC		0.463	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		29	55	0	0	0	1	0	29	55				
TCTE1	202500	broad.mit.edu	37	6	44250038	44250038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44250038G>T	ENST00000371505.4	-	4	1227	c.1105C>A	c.(1105-1107)Cta>Ata	p.L369I	TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	369										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGAGACGTAGGTTGAGGGAA	0.602																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1105-1107)Cta>Ata		t-complex-associated-testis-expressed 1							264.0	202.0	223.0					6																	44250038		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250038G>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1105C>A	6.37:g.44250038G>T	ENSP00000360560:p.Leu369Ile					TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	p.L369I	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1227	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		369					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1105C>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912493	0.72983	.	.	ENSG00000146221	ENST00000371505	T	0.72835	-0.69	5.37	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.66723	0.2818	L	0.52759	1.655	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	T	0.69847	-0.5034	10	0.45353	T	0.12	-16.2291	6.3384	0.21309	0.1509:0.0:0.6998:0.1493	.	369	Q5JU00	TCTE1_HUMAN	I	369	ENSP00000360560:L369I	ENSP00000360560:L369I	L	-	1	2	TCTE1	44358016	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.847000	0.55895	1.409000	0.46915	0.455000	0.32223	CTA		0.602	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		10	110	1	0	0.000673444	1	0.000724755	10	110				
ATR	545	broad.mit.edu	37	3	142226890	142226890	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142226890C>A	ENST00000350721.4	-	28	5035	c.4914G>T	c.(4912-4914)caG>caT	p.Q1638H	ATR_ENST00000383101.3_Missense_Mutation_p.Q1574H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1638					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAGAGTATCCTGGGGTATGA	0.363								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4912-4914)caG>caT	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							81.0	79.0	80.0					3																	142226890		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142226890C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4914G>T	3.37:g.142226890C>A	ENSP00000343741:p.Gln1638His					ATR_ENST00000383101.3_Missense_Mutation_p.Q1574H	p.Q1638H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			28	5035	-			1638					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4914G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017090	0.35606	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.21932	1.98;1.98	5.35	0.52	0.17040	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.54908	1.71	0.52501	D	0.999957	D	0.89917	1.0	D	0.73380	0.98	T	0.08868	-1.0701	10	0.14656	T	0.56	-10.3662	10.3231	0.43777	0.0:0.5941:0.0:0.4059	.	1638	Q13535	ATR_HUMAN	H	1638;1574	ENSP00000343741:Q1638H;ENSP00000372581:Q1574H	ENSP00000343741:Q1638H	Q	-	3	2	ATR	143709580	1.000000	0.71417	0.994000	0.49952	0.625000	0.37756	0.889000	0.28282	0.014000	0.14944	-0.136000	0.14681	CAG		0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		6	63	1	0	0.000157383	1	0.00017284	6	63				
IGFBP5	3488	broad.mit.edu	37	2	217543716	217543716	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217543716T>C	ENST00000233813.4	-	2	1173	c.424A>G	c.(424-426)Acc>Gcc	p.T142A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	142					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGATGCGGGTGTGTTTGGGC	0.602																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(424-426)Acc>Gcc		insulin-like growth factor binding protein 5							113.0	102.0	106.0					2																	217543716		2203	4300	6503	SO:0001583	missense	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217543716T>C		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.424A>G	2.37:g.217543716T>C	ENSP00000233813:p.Thr142Ala						p.T142A	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1173	-		Renal(323;0.0822)	142					Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	c.424A>G	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767671	0.31320	.	.	ENSG00000115461	ENST00000233813;ENST00000449583	T;T	0.40756	1.02;2.22	4.92	2.49	0.30216	.	0.954490	0.08820	N	0.888971	T	0.19886	0.0478	N	0.14661	0.345	0.25569	N	0.986912	B	0.10296	0.003	B	0.08055	0.003	T	0.28996	-1.0026	10	0.13853	T	0.58	-22.4883	0.5152	0.00602	0.2158:0.1329:0.2249:0.4264	.	142	P24593	IBP5_HUMAN	A	142;187	ENSP00000233813:T142A;ENSP00000413474:T187A	ENSP00000233813:T142A	T	-	1	0	IGFBP5	217251961	0.008000	0.16893	0.986000	0.45419	0.971000	0.66376	1.056000	0.30480	0.882000	0.36016	0.459000	0.35465	ACC		0.602	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		19	38	0	0	0	1	0	19	38				
MAGEE1	57692	broad.mit.edu	37	X	75651070	75651070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75651070G>A	ENST00000361470.2	+	1	3025	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	916	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAAGCCTTGCGATATGTGGCC	0.493																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2746-2748)cGa>cAa		melanoma antigen family E, 1							77.0	72.0	74.0					X																	75651070		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75651070G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2747G>A	X.37:g.75651070G>A	ENSP00000354912:p.Arg916Gln						p.R916Q	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	3025	+			916			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2747G>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	15.79	2.938645	0.52972	.	.	ENSG00000198934	ENST00000361470	T	0.03004	4.08	2.0	2.0	0.26442	.	.	.	.	.	T	0.04679	0.0127	N	0.05050	-0.12	0.22112	N	0.999355	D	0.76494	0.999	D	0.63283	0.913	T	0.47787	-0.9090	9	0.48119	T	0.1	.	6.7299	0.23377	0.0:0.0:1.0:0.0	.	916	Q9HCI5	MAGE1_HUMAN	Q	916	ENSP00000354912:R916Q	ENSP00000354912:R916Q	R	+	2	0	MAGEE1	75567474	0.248000	0.23930	0.716000	0.30569	0.969000	0.65631	1.153000	0.31676	1.264000	0.44198	0.529000	0.55759	CGA		0.493	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		16	25	0	0	0	1	0	16	25				
DOCK11	139818	broad.mit.edu	37	X	117752685	117752685	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117752685G>A	ENST00000276202.7	+	31	3528	c.3465G>A	c.(3463-3465)caG>caA	p.Q1155Q	DOCK11_ENST00000276204.6_Silent_p.Q1155Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1155					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGATACCAGCACAAGGTAA	0.338																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(3463-3465)caG>caA		dedicator of cytokinesis 11							58.0	51.0	53.0					X																	117752685		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117752685G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3465G>A	X.37:g.117752685G>A						DOCK11_ENST00000276202.7_Silent_p.Q1155Q	p.Q1155Q			Q5JSL3	DOC11_HUMAN			31	3539	+			1155					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.3465G>A	CCDS35373.1																																																																																				0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		17	40	0	0	0	1	0	17	40				
NBAS	51594	broad.mit.edu	37	2	15607493	15607493	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15607493C>T	ENST00000281513.5	-	19	2082	c.2057G>A	c.(2056-2058)cGg>cAg	p.R686Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R686Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	686					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAATAACTTCCGTCTACAACG	0.318																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2056-2058)cGg>cAg		neuroblastoma amplified sequence							145.0	141.0	142.0					2																	15607493		2203	4299	6502	SO:0001583	missense	51594							g.chr2:15607493C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2057G>A	2.37:g.15607493C>T	ENSP00000281513:p.Arg686Gln					NBAS_ENST00000441750.1_Missense_Mutation_p.R686Q	p.R686Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			19	2082	-			686					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2057G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596240	0.46318	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09538	2.97;3.12	6.02	2.3	0.28687	.	0.200853	0.44097	N	0.000499	T	0.06735	0.0172	N	0.17082	0.46	0.21984	N	0.999432	B	0.18741	0.03	B	0.06405	0.002	T	0.30149	-0.9988	10	0.87932	D	0	.	9.2147	0.37339	0.6381:0.2499:0.0:0.112	.	686	A2RRP1	NBAS_HUMAN	Q	686	ENSP00000413201:R686Q;ENSP00000281513:R686Q	ENSP00000281513:R686Q	R	-	2	0	NBAS	15524944	1.000000	0.71417	0.995000	0.50966	0.619000	0.37552	6.260000	0.72502	0.150000	0.19136	-0.271000	0.10264	CGG		0.318	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		5	58	0	0	0	1	0	5	58				
GPR98	84059	broad.mit.edu	37	5	89989955	89989955	+	Missense_Mutation	SNP	C	C	T	rs560465803		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89989955C>T	ENST00000405460.2	+	33	7478	c.7382C>T	c.(7381-7383)cCc>cTc	p.P2461L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2461	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGAGGGTCCCCAGTGTTTC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19619	0.001		0.0	False		,,,				2504	0.0					ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7381-7383)cCc>cTc		G protein-coupled receptor 98							66.0	65.0	65.0					5																	89989955		1917	4128	6045	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989955C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7382C>T	5.37:g.89989955C>T	ENSP00000384582:p.Pro2461Leu						p.P2461L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7478	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2461					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7382C>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.62|18.62	3.662840|3.662840	0.67700|0.67700	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|T	0.29655|0.23147	1.56|1.92	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.045913|0.045913	0.85682|0.85682	D|N	0.000000|0.000000	T|T	0.49201|0.49201	0.1543|0.1543	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.985;1.0|.	P;D|.	0.74674|.	0.786;0.984|.	T|T	0.37478|0.37478	-0.9704|-0.9704	10|8	0.59425|0.59425	D|D	0.04|0.04	.|.	20.3081|20.3081	0.98638|0.98638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2461;2461|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	L|S	2461|27	ENSP00000384582:P2461L|ENSP00000422153:P27S	ENSP00000296619:P2461L|ENSP00000422153:P27S	P|P	+|+	2|1	0|0	GPR98|GPR98	90025711|90025711	0.672000|0.672000	0.27530|0.27530	0.197000|0.197000	0.23402|0.23402	0.293000|0.293000	0.27360|0.27360	5.903000|5.903000	0.69877|0.69877	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.483	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		22	19	0	0	0	1	0	22	19				
CHSY3	337876	broad.mit.edu	37	5	129521469	129521469	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129521469T>C	ENST00000305031.4	+	3	2992	c.2634T>C	c.(2632-2634)aaT>aaC	p.N878N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	878					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCAGGTACAATCGAACTCTCT	0.393																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2632-2634)aaT>aaC		chondroitin sulfate synthase 3							60.0	56.0	58.0					5																	129521469		2203	4300	6503	SO:0001819	synonymous_variant	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521469T>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2634T>C	5.37:g.129521469T>C							p.N878N	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2992	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	878					B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	c.2634T>C	CCDS34223.1																																																																																				0.393	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		26	33	0	0	0	1	0	26	33				
FLG2	388698	broad.mit.edu	37	1	152329824	152329824	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152329824G>T	ENST00000388718.5	-	3	510	c.438C>A	c.(436-438)caC>caA	p.H146Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	146	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCTTGAGTGCCCAGAAC	0.463																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(436-438)caC>caA		filaggrin family member 2							236.0	233.0	234.0					1																	152329824		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329824G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.438C>A	1.37:g.152329824G>T	ENSP00000373370:p.His146Gln					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H146Q	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	510	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		146			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.438C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.257	0.604460	0.14002	.	.	ENSG00000143520	ENST00000388718	T	0.00638	6.04	5.62	-4.04	0.04010	.	.	.	.	.	T	0.00144	0.0004	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36553	-0.9743	9	0.24483	T	0.36	-1.3655	0.12	0.00064	0.2489:0.2264:0.2227:0.302	.	146	Q5D862	FILA2_HUMAN	Q	146	ENSP00000373370:H146Q	ENSP00000373370:H146Q	H	-	3	2	FLG2	150596448	0.000000	0.05858	0.139000	0.22197	0.107000	0.19398	-0.798000	0.04565	-0.484000	0.06763	-0.262000	0.10625	CAC		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		37	201	1	0	6.33695e-27	1	8.44593e-27	37	201				
CTNND1	1500	broad.mit.edu	37	11	57569568	57569568	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57569568C>T	ENST00000399050.4	+	7	1856	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	CTNND1_ENST00000532463.1_Silent_p.D339D|CTNND1_ENST00000361332.4_Silent_p.D440D|CTNND1_ENST00000529526.1_Silent_p.D386D|CTNND1_ENST00000530094.1_Silent_p.D339D|CTNND1_ENST00000426142.2_Silent_p.D339D|CTNND1_ENST00000361391.6_Silent_p.D440D|CTNND1_ENST00000532787.1_Silent_p.D339D|CTNND1_ENST00000534579.1_Silent_p.D386D|CTNND1_ENST00000530748.1_Silent_p.D386D|CTNND1_ENST00000361796.4_Silent_p.D440D|CTNND1_ENST00000526938.1_Silent_p.D440D|CTNND1_ENST00000532649.1_Silent_p.D386D|CTNND1_ENST00000529919.1_Silent_p.D440D|CTNND1_ENST00000428599.2_Silent_p.D440D|CTNND1_ENST00000532844.1_Silent_p.D386D|CTNND1_ENST00000524630.1_Silent_p.D440D|CTNND1_ENST00000525902.1_Silent_p.D117D|CTNND1_ENST00000358694.6_Silent_p.D440D|CTNND1_ENST00000360682.6_Silent_p.D440D|CTNND1_ENST00000527467.1_Silent_p.D117D|CTNND1_ENST00000529873.1_Silent_p.D386D|CTNND1_ENST00000533667.1_Silent_p.D117D|CTNND1_ENST00000526357.1_Silent_p.D386D|CTNND1_ENST00000528621.1_Silent_p.D386D|CTNND1_ENST00000529986.1_Silent_p.D339D|CTNND1_ENST00000399039.4_Silent_p.D440D|CTNND1_ENST00000528232.1_Silent_p.D339D|CTNND1_ENST00000415361.2_Silent_p.D339D|CTNND1_ENST00000526772.1_Silent_p.D117D|CTNND1_ENST00000532245.1_Silent_p.D339D|CTNND1_ENST00000531014.1_Silent_p.D117D	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	440					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTGGACGTGACCAGGATAACA	0.473																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(1318-1320)gaC>gaT		catenin (cadherin-associated protein), delta 1							232.0	228.0	229.0					11																	57569568		1972	4157	6129	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569568C>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1320C>T	11.37:g.57569568C>T						CTNND1_ENST00000530094.1_Silent_p.D339D|CTNND1_ENST00000534579.1_Silent_p.D386D|CTNND1_ENST00000528232.1_Silent_p.D339D|CTNND1_ENST00000529526.1_Silent_p.D386D|CTNND1_ENST00000428599.2_Silent_p.D440D|CTNND1_ENST00000399039.4_Silent_p.D440D|CTNND1_ENST00000399050.4_Silent_p.D440D|CTNND1_ENST00000415361.2_Silent_p.D339D|CTNND1_ENST00000529919.1_Silent_p.D440D|CTNND1_ENST00000525902.1_Silent_p.D117D|CTNND1_ENST00000529873.1_Silent_p.D386D|CTNND1_ENST00000531014.1_Silent_p.D117D|CTNND1_ENST00000358694.6_Silent_p.D440D|CTNND1_ENST00000532787.1_Silent_p.D339D|CTNND1_ENST00000426142.2_Silent_p.D339D|CTNND1_ENST00000532649.1_Silent_p.D386D|CTNND1_ENST00000532844.1_Silent_p.D386D|CTNND1_ENST00000529986.1_Silent_p.D339D|CTNND1_ENST00000361332.4_Silent_p.D440D|CTNND1_ENST00000532463.1_Silent_p.D339D|CTNND1_ENST00000528621.1_Silent_p.D386D|CTNND1_ENST00000533667.1_Silent_p.D117D|CTNND1_ENST00000526357.1_Silent_p.D386D|CTNND1_ENST00000526938.1_Silent_p.D440D|CTNND1_ENST00000361391.6_Silent_p.D440D|CTNND1_ENST00000532245.1_Silent_p.D339D|CTNND1_ENST00000361796.4_Silent_p.D440D|CTNND1_ENST00000530748.1_Silent_p.D386D|CTNND1_ENST00000360682.6_Silent_p.D440D|CTNND1_ENST00000527467.1_Silent_p.D117D|CTNND1_ENST00000526772.1_Silent_p.D117D	p.D440D			O60716	CTND1_HUMAN			7	1833	+		all_epithelial(135;0.155)	440					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.1320C>T	CCDS44604.1																																																																																				0.473	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		72	172	0	0	0	1	0	72	172				
DIP2B	57609	broad.mit.edu	37	12	51097980	51097980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51097980G>T	ENST00000301180.5	+	20	2417	c.2383G>T	c.(2383-2385)Gga>Tga	p.G795*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	795						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATCCGATCAGGATTGCTGGG	0.383																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(2383-2385)Gga>Tga		DIP2 disco-interacting protein 2 homolog B (Drosophila)							165.0	154.0	158.0					12																	51097980		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51097980G>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2383G>T	12.37:g.51097980G>T	ENSP00000301180:p.Gly795*						p.G795*	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			20	2417	+			795					Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.2383G>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	40	8.293657	0.98747	.	.	ENSG00000066084	ENST00000301180	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.361	18.7699	0.91887	0.0:0.0:1.0:0.0	.	.	.	.	X	795	.	ENSP00000301180:G795X	G	+	1	0	DIP2B	49384247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.498000	0.97972	2.744000	0.94065	0.655000	0.94253	GGA		0.383	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		13	87	1	0	1.5739e-10	1	1.9432e-10	13	87				
SLC29A3	55315	broad.mit.edu	37	10	73115972	73115972	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73115972C>A	ENST00000373189.5	+	5	797	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	249					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGACTCTACCTGCTGCTGTC	0.552																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(745-747)Ctg>Atg		solute carrier family 29 (equilibrative nucleoside transporter), member 3							131.0	94.0	107.0					10																	73115972		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73115972C>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.745C>A	10.37:g.73115972C>A	ENSP00000362285:p.Leu249Met					SLC29A3_ENST00000469204.1_3'UTR	p.L249M	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			5	797	+			249					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.745C>A	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940671	0.34283	.	.	ENSG00000198246	ENST00000373189	T	0.64991	-0.13	4.64	2.8	0.32819	.	0.108809	0.39475	N	0.001350	T	0.75481	0.3855	M	0.80028	2.48	0.44899	D	0.997919	D	0.71674	0.998	D	0.74674	0.984	T	0.80457	-0.1374	9	0.66056	D	0.02	-14.9916	7.6996	0.28615	0.0:0.7422:0.0:0.2578	.	249	Q9BZD2	S29A3_HUMAN	M	249	ENSP00000362285:L249M	ENSP00000362285:L249M	L	+	1	2	SLC29A3	72785978	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	2.036000	0.41165	0.598000	0.29829	-0.251000	0.11542	CTG		0.552	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		14	43	1	0	2.31682e-05	1	2.60394e-05	14	43				
DAPK3	1613	broad.mit.edu	37	19	3959164	3959164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3959164C>T	ENST00000545797.2	-	9	1543	c.1300G>A	c.(1300-1302)Gtg>Atg	p.V434M	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Missense_Mutation_p.V434M			O43293	DAPK3_HUMAN	death-associated protein kinase 3	434	Leucine-zipper. {ECO:0000303|PubMed:9488481}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCTGCACGAAGCGCATC	0.721																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(1300-1302)Gtg>Atg		death-associated protein kinase 3							11.0	11.0	11.0					19																	3959164		2189	4277	6466	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3959164C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.1300G>A	19.37:g.3959164C>T	ENSP00000442973:p.Val434Met					DAPK3_ENST00000301264.3_Missense_Mutation_p.V434M	p.V434M			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1543	-		Hepatocellular(1079;0.137)	434			Interaction with CDC5L (By similarity).		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.1300G>A	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574007	0.65765	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.69806	-0.43;-0.43	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	T	0.50120	0.1597	L	0.29908	0.895	0.51012	D	0.9999	P	0.51449	0.945	B	0.31191	0.125	T	0.60885	-0.7174	10	0.54805	T	0.06	.	17.0728	0.86579	0.0:1.0:0.0:0.0	.	434	O43293	DAPK3_HUMAN	M	434	ENSP00000301264:V434M;ENSP00000442973:V434M	ENSP00000301264:V434M	V	-	1	0	DAPK3	3910164	0.996000	0.38824	0.986000	0.45419	0.517000	0.34286	3.470000	0.53100	2.279000	0.76181	0.561000	0.74099	GTG		0.721	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		5	1	0	0	0	1	0	5	1				
NMT2	9397	broad.mit.edu	37	10	15175059	15175059	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15175059G>T	ENST00000378165.4	-	5	675	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	NMT2_ENST00000540259.1_Missense_Mutation_p.L11M|NMT2_ENST00000535341.1_Missense_Mutation_p.L186M|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.L186M	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	199					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TACCACAACAGGAACTCGGGT	0.433																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(595-597)Ctg>Atg		N-myristoyltransferase 2							164.0	149.0	154.0					10																	15175059		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15175059G>T	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.595C>A	10.37:g.15175059G>T	ENSP00000367407:p.Leu199Met					RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.L186M|NMT2_ENST00000535341.1_Missense_Mutation_p.L186M|NMT2_ENST00000540259.1_Missense_Mutation_p.L11M	p.L199M	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			5	675	-			199					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.595C>A	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118578	0.77323	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.64085	-0.08	5.7	4.8	0.61643	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.066948	0.64402	D	0.000007	D	0.85948	0.5816	H	0.97540	4.025	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.991;0.993;0.991	D	0.90774	0.4674	10	0.87932	D	0	-10.346	14.4275	0.67225	0.0706:0.0:0.9294:0.0	.	199;186;199	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	M	199;186;230;11;186	ENSP00000367407:L199M	ENSP00000367385:L230M	L	-	1	2	NMT2	15215065	1.000000	0.71417	0.989000	0.46669	0.638000	0.38207	5.753000	0.68736	1.411000	0.46957	0.655000	0.94253	CTG		0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		5	63	1	0	1.23904e-05	1	1.39987e-05	5	63				
MYH1	4619	broad.mit.edu	37	17	10398332	10398332	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10398332C>T	ENST00000226207.5	-	37	5476	c.5382G>A	c.(5380-5382)gtG>gtA	p.V1794V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCCTTCACCGTCTGTT	0.557																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5380-5382)gtG>gtA		myosin, heavy chain 1, skeletal muscle, adult							151.0	144.0	146.0					17																	10398332		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398332C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5382G>A	17.37:g.10398332C>T						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.V1794V	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			37	5476	-			1794					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5382G>A	CCDS11155.1																																																																																				0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		13	109	0	0	0	1	0	13	109				
ARID2	196528	broad.mit.edu	37	12	46233126	46233126	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46233126C>A	ENST00000334344.6	+	11	1517	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	ARID2_ENST00000422737.1_Missense_Mutation_p.L300M|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Intron	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	449					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTAGTGTGTCTGGTTTCTAT	0.338			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1345-1347)Ctg>Atg		AT rich interactive domain 2 (ARID, RFX-like)							96.0	90.0	92.0					12																	46233126		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233126C>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1345C>A	12.37:g.46233126C>A	ENSP00000335044:p.Leu449Met					ARID2_ENST00000444670.1_Intron|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L300M	p.L449M	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1517	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	449					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1345C>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365823	0.61513	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.56275	0.47;0.47	5.19	3.36	0.38483	.	0.000000	0.64402	D	0.000002	T	0.65760	0.2722	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.80764	0.954;0.994	T	0.66217	-0.5979	10	0.72032	D	0.01	-5.8768	10.7094	0.45973	0.0:0.8412:0.0:0.1588	.	300;449	F8WCU9;Q68CP9	.;ARID2_HUMAN	M	449;300	ENSP00000335044:L449M;ENSP00000415650:L300M	ENSP00000335044:L449M	L	+	1	2	ARID2	44519393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.319000	0.33655	0.690000	0.31570	0.655000	0.94253	CTG		0.338	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		13	42	1	0	1.5842e-08	1	1.90059e-08	13	42				
HIVEP3	59269	broad.mit.edu	37	1	42047197	42047197	+	Missense_Mutation	SNP	G	G	A	rs201116213		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42047197G>A	ENST00000372583.1	-	4	4157	c.3272C>T	c.(3271-3273)gCg>gTg	p.A1091V	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1091V|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A1091V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1091V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1091					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGAGGTGGCCGCAGAGGAAAT	0.607																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(3271-3273)gCg>gTg		human immunodeficiency virus type I enhancer binding protein 3							54.0	62.0	59.0					1																	42047197		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047197G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3272C>T	1.37:g.42047197G>A	ENSP00000361664:p.Ala1091Val					HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1091V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1091V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1091V	p.A1091V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	4286	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1091					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3272C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.298176	0.00243	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05925	3.38;3.37;3.37;3.38	4.62	0.585	0.17428	.	0.992297	0.08173	N	0.986708	T	0.03053	0.0090	N	0.12182	0.205	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.09377	0.004;0.002	T	0.45571	-0.9252	10	0.06099	T	0.92	-0.2741	6.3556	0.21400	0.2298:0.1324:0.6378:0.0	.	1091;1091	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	1091	ENSP00000361665:A1091V;ENSP00000361664:A1091V;ENSP00000247584:A1091V;ENSP00000410828:A1091V	ENSP00000247584:A1091V	A	-	2	0	HIVEP3	41819784	0.005000	0.15991	0.000000	0.03702	0.008000	0.06430	1.798000	0.38814	-0.046000	0.13446	0.313000	0.20887	GCG		0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		29	33	0	0	0	1	0	29	33				
ITGA3	3675	broad.mit.edu	37	17	48151344	48151344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48151344G>A	ENST00000320031.8	+	8	1551	c.1221G>A	c.(1219-1221)aaG>aaA	p.K407K	ITGA3_ENST00000544892.1_Silent_p.K182K|ITGA3_ENST00000007722.7_Silent_p.K407K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	407					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTAGCTCTAAGGGGCTCCTTA	0.557																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(1219-1221)aaG>aaA		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							82.0	84.0	84.0					17																	48151344		2203	4300	6503	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48151344G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1221G>A	17.37:g.48151344G>A						ITGA3_ENST00000007722.7_Silent_p.K407K|ITGA3_ENST00000544892.1_Silent_p.K182K	p.K407K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			8	1551	+			407					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.1221G>A	CCDS11558.1																																																																																				0.557	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		3	38	0	0	0	1	0	3	38				
PDE9A	5152	broad.mit.edu	37	21	44189185	44189185	+	Nonsense_Mutation	SNP	C	C	T	rs140304122		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44189185C>T	ENST00000291539.6	+	17	1570	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	PDE9A_ENST00000398227.3_Nonsense_Mutation_p.R344*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.R377*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.R437*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.R402*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.R376*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.R370*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.R444*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.R451*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.R403*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.R418*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.R478*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.R463*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.R376*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	504	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GTTCATGGACCGAGACAAAGT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		24796	0.001		0.0	False		,,,				2504	0.0					ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1510-1512)Cga>Tga		phosphodiesterase 9A		C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	200.0	161.0	174.0		1330,1129,1126,1351,1207,889,889,1252,1030,859,1108,1204,889,859,1309,1387,1432,889,889,1510	2.8	1.0	21	dbSNP_134	174	0,8600		0,0,4300	yes	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	,,,,,,,,,,,,,,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,,,,,,,,,,,,,	444/534,377/467,376/466,451/541,403/493,297/387,297/387,418/508,344/434,287/377,370/460,402/492,297/387,287/377,437/527,463/553,478/568,297/387,297/387,504/594	44189185	1,13005	2203	4300	6503	SO:0001587	stop_gained	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44189185C>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1510C>T	21.37:g.44189185C>T	ENSP00000291539:p.Arg504*					PDE9A_ENST00000335440.6_Nonsense_Mutation_p.R402*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.R370*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.R451*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.R403*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.R377*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.R478*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.R437*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.R444*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.R376*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.R376*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.R418*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.R344*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.R463*	p.R504*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			17	1570	+			504			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Nonsense_Mutation	SNP	ENST00000291539.6	37	c.1510C>T	CCDS13690.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.769204	0.96914	2.27E-4	0.0	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	.	.	.	4.75	2.85	0.33270	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.171	0.59597	0.306:0.694:0.0:0.0	.	.	.	.	X	444;376;504;451;437;403;418;478;402;463;370;344;376;377	.	ENSP00000291539:R504X	R	+	1	2	PDE9A	43062254	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.679000	0.37597	0.373000	0.24621	0.313000	0.20887	CGA		0.507	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			5	58	0	0	0	1	0	5	58				
HECTD4	283450	broad.mit.edu	37	12	112621023	112621023	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112621023G>A	ENST00000430131.2	-	61	10706	c.9561C>T	c.(9559-9561)aaC>aaT	p.N3187N	HECTD4_ENST00000377560.5_Silent_p.N3437N|HECTD4_ENST00000550722.1_Silent_p.N3463N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3187					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGTCATTATTGTTAAATAAAC	0.383																																						ENST00000550722.1																			0											c.(10387-10389)aaC>aaT		HECT domain containing E3 ubiquitin protein ligase 4							164.0	162.0	162.0					12																	112621023		1840	4090	5930	SO:0001819	synonymous_variant	283450							g.chr12:112621023G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9561C>T	12.37:g.112621023G>A						HECTD4_ENST00000430131.2_Silent_p.N3187N|HECTD4_ENST00000377560.5_Silent_p.N3437N	p.N3463N	NM_001109662.3	NP_001103132.3					62	10784	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10389C>T																																																																																					0.383	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		58	80	0	0	0	1	0	58	80				
KMT2A	4297	broad.mit.edu	37	11	118352537	118352537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118352537G>A	ENST00000389506.5	+	7	3742	c.3742G>A	c.(3742-3744)Gca>Aca	p.A1248T	KMT2A_ENST00000534358.1_Missense_Mutation_p.A1248T|KMT2A_ENST00000354520.4_Missense_Mutation_p.A1248T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1248					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TACCCCATCAGCAAGAGAGGA	0.498																																						ENST00000534358.1																			0											c.(3742-3744)Gca>Aca		lysine (K)-specific methyltransferase 2A							105.0	97.0	100.0					11																	118352537		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118352537G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3742G>A	11.37:g.118352537G>A	ENSP00000374157:p.Ala1248Thr					KMT2A_ENST00000389506.5_Missense_Mutation_p.A1248T|KMT2A_ENST00000354520.4_Missense_Mutation_p.A1248T	p.A1248T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					7	3765	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.3742G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589707	0.28357	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313	D;T;D;D	0.81908	-1.54;1.03;-1.55;-1.5	5.67	2.79	0.32731	.	0.552967	0.19352	N	0.116368	T	0.68247	0.2980	N	0.16478	0.41	0.22066	N	0.999386	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.54702	-0.8254	10	0.33940	T	0.23	.	8.8551	0.35223	0.1385:0.2812:0.5802:0.0	.	1248;1248	E9PQG7;Q03164	.;MLL1_HUMAN	T	1248;1281;1248;1248;158	ENSP00000436786:A1248T;ENSP00000432391:A1281T;ENSP00000374157:A1248T;ENSP00000346516:A1248T	ENSP00000346516:A1248T	A	+	1	0	MLL	117857747	0.863000	0.29885	0.151000	0.22473	0.894000	0.52154	0.218000	0.17622	0.333000	0.23563	-0.253000	0.11424	GCA		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	59	0	0	0	1	0	5	59				
RBP3	5949	broad.mit.edu	37	10	48388602	48388602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48388602G>A	ENST00000224600.4	-	1	2389	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	759	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGCCCCACGGCCTTCACTGT	0.627																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2275-2277)gCc>gTc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						31.0	30.0	30.0					10																	48388602		2202	4300	6502	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388602G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2276C>T	10.37:g.48388602G>A	ENSP00000224600:p.Ala759Val						p.A759V	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2389	-			759			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2276C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786960	0.31593	.	.	ENSG00000107618	ENST00000224600	T	0.50277	0.75	5.53	3.68	0.42216	Interphotoreceptor retinol-binding (2);	0.151564	0.43747	N	0.000537	T	0.47060	0.1425	M	0.65498	2.005	0.40486	D	0.980493	B	0.16603	0.018	B	0.23419	0.046	T	0.47886	-0.9082	10	0.72032	D	0.01	-22.4958	11.0186	0.47705	0.1498:0.0:0.8502:0.0	.	759	P10745	RET3_HUMAN	V	759	ENSP00000224600:A759V	ENSP00000224600:A759V	A	-	2	0	RBP3	48008608	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	2.017000	0.40981	0.711000	0.32018	0.655000	0.94253	GCC		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		7	12	0	0	0	1	0	7	12				
FYN	2534	broad.mit.edu	37	6	111983139	111983139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111983139G>A	ENST00000354650.3	-	14	2023	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FYN_ENST00000538466.1_Missense_Mutation_p.R470W|FYN_ENST00000368667.2_Missense_Mutation_p.R473W|FYN_ENST00000368682.3_Missense_Mutation_p.R470W|FYN_ENST00000368678.4_Missense_Mutation_p.R470W|FYN_ENST00000356013.2_Missense_Mutation_p.R418W|FYN_ENST00000229470.5_Missense_Mutation_p.R421W|FYN_ENST00000229471.4_Missense_Mutation_p.R418W	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGCACCTCCCGGTTGTTCATG	0.602																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1417-1419)Cgg>Tgg		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						77.0	77.0	77.0					6																	111983139		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983139G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1417C>T	6.37:g.111983139G>A	ENSP00000346671:p.Arg473Trp					FYN_ENST00000368667.2_Missense_Mutation_p.R473W|FYN_ENST00000368678.4_Missense_Mutation_p.R470W|FYN_ENST00000229470.5_Missense_Mutation_p.R421W|FYN_ENST00000356013.2_Missense_Mutation_p.R418W|FYN_ENST00000229471.4_Missense_Mutation_p.R418W|FYN_ENST00000538466.1_Missense_Mutation_p.R470W|FYN_ENST00000368682.3_Missense_Mutation_p.R470W	p.R473W	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	14	2023	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	473			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1417C>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198931	0.79015	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	L	0.45137	1.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.97110	0.929;0.883;1.0	D	0.86586	0.1857	10	0.52906	T	0.07	.	19.6355	0.95731	0.0:0.0:1.0:0.0	.	473;418;470	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	W	470;473;418;473;470;421;418;470;421	ENSP00000357671:R470W;ENSP00000346671:R473W;ENSP00000229471:R418W;ENSP00000357656:R473W;ENSP00000357667:R470W;ENSP00000229470:R421W;ENSP00000348295:R418W;ENSP00000440646:R470W	ENSP00000229470:R421W	R	-	1	2	FYN	112089832	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.874000	0.87199	2.646000	0.89796	0.561000	0.74099	CGG		0.602	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			10	71	0	0	0	1	0	10	71				
FBXO47	494188	broad.mit.edu	37	17	37111187	37111187	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37111187C>A	ENST00000378079.2	-	5	629		c.e5-1			NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47											NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGCAGGAAACCTGTAAAGAAA	0.333																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.e5-1		F-box protein 47							63.0	61.0	61.0					17																	37111187		2203	4299	6502	SO:0001630	splice_region_variant	494188							g.chr17:37111187C>A		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.430-1G>T	17.37:g.37111187C>A								NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			5	629	-								B2RTZ4	Splice_Site	SNP	ENST00000378079.2	37		CCDS32639.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018126	0.75275	.	.	ENSG00000204952	ENST00000378079	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4172	0.90574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXO47	34364713	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.103000	0.64578	2.711000	0.92665	0.563000	0.77884	.		0.333	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777	Intron	13	28	1	0	1.49906e-05	1	1.69169e-05	13	28				
ERCC6L	54821	broad.mit.edu	37	X	71426140	71426140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71426140G>A	ENST00000334463.3	-	2	2612	c.2477C>T	c.(2476-2478)aCt>aTt	p.T826I	ERCC6L_ENST00000373657.1_Missense_Mutation_p.T703I|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	826					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGAAGAGTTAGTACAAAGTTC	0.408																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2107-2109)aCt>aTt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							89.0	80.0	83.0					X																	71426140		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71426140G>A	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2477C>T	X.37:g.71426140G>A	ENSP00000334675:p.Thr826Ile					ERCC6L_ENST00000334463.3_Missense_Mutation_p.T826I|PIN4_ENST00000423432.2_Intron	p.T703I			Q2NKX8	ERC6L_HUMAN			3	2710	-	Renal(35;0.156)		826					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2108C>T	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783155	0.16189	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.93076	-3.13;-3.16	5.28	-2.56	0.06268	.	.	.	.	.	D	0.86628	0.5978	L	0.47716	1.5	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.72606	-0.4242	9	0.38643	T	0.18	0.394	1.2101	0.01903	0.1652:0.2108:0.3255:0.2984	.	826	Q2NKX8	ERC6L_HUMAN	I	703;826	ENSP00000362761:T703I;ENSP00000334675:T826I	ENSP00000334675:T826I	T	-	2	0	ERCC6L	71342865	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.716000	0.04991	-0.370000	0.08016	-1.362000	0.01212	ACT		0.408	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		6	68	0	0	0	1	0	6	68				
GABRR1	2569	broad.mit.edu	37	6	89899961	89899961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89899961G>A	ENST00000454853.2	-	6	688	c.578C>T	c.(577-579)aCa>aTa	p.T193I	GABRR1_ENST00000369451.3_Missense_Mutation_p.T106I|GABRR1_ENST00000435811.1_Missense_Mutation_p.T176I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	193					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGCAGTTACTGTAACCCTAGG	0.438																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(526-528)aCa>aTa		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						134.0	118.0	123.0					6																	89899961		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89899961G>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.578C>T	6.37:g.89899961G>A	ENSP00000412673:p.Thr193Ile					GABRR1_ENST00000454853.2_Missense_Mutation_p.T193I|GABRR1_ENST00000369451.3_Missense_Mutation_p.T106I	p.T176I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	5	981	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	193					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.527C>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798542	0.90538	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.77358	-1.09;-1.09;-1.09	5.7	5.7	0.88788	Neurotransmitter-gated ion-channel ligand-binding (3);	0.100201	0.64402	D	0.000002	D	0.88862	0.6552	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	D	0.88911	0.3359	9	.	.	.	-13.0505	19.8289	0.96627	0.0:0.0:1.0:0.0	.	176;193	P24046-2;P24046	.;GBRR1_HUMAN	I	193;176;106;106	ENSP00000412673:T193I;ENSP00000394687:T176I;ENSP00000358463:T106I	.	T	-	2	0	GABRR1	89956680	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	9.810000	0.99221	2.692000	0.91855	0.467000	0.42956	ACA		0.438	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			7	51	0	0	0	1	0	7	51				
TOM1L1	10040	broad.mit.edu	37	17	52992099	52992099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:52992099G>T	ENST00000575882.1	+	6	951	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.E193*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.E165*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.E200*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	200	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATTGGTCCCAGAACAGGtaac	0.383																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(598-600)Gaa>Taa		target of myb1 (chicken)-like 1							217.0	201.0	206.0					17																	52992099		2203	4300	6503	SO:0001587	stop_gained	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52992099G>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.598G>T	17.37:g.52992099G>T	ENSP00000460823:p.Glu200*					TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.E165*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.E193*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.E200*	p.E200*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			6	951	+			200			GAT.		Q53G06|Q8N749	Nonsense_Mutation	SNP	ENST00000575882.1	37	c.598G>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294800	0.81025	.	.	ENSG00000141198	ENST00000445275;ENST00000348161;ENST00000536554	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.0926	14.9976	0.71446	0.0:0.0:1.0:0.0	.	.	.	.	X	200;123;123	.	ENSP00000343901:E123X	E	+	1	0	TOM1L1	50347098	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.489000	0.60309	2.606000	0.88127	0.655000	0.94253	GAA		0.383	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		73	85	1	0	1.26778e-28	1	1.69481e-28	73	85				
MPST	4357	broad.mit.edu	37	22	37425477	37425477	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37425477C>T	ENST00000397225.2	+	3	1731	c.816C>T	c.(814-816)taC>taT	p.Y272Y	MPST_ENST00000401419.3_Silent_p.Y272Y|MPST_ENST00000341116.3_Silent_p.Y272Y|MPST_ENST00000404802.3_Silent_p.Y272Y|MPST_ENST00000429360.2_Silent_p.Y272Y|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000397129.1_Silent_p.Y292Y			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	272	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TGCCCATCTACGATGGCTCCT	0.657																																						ENST00000397225.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						c.(814-816)taC>taT		mercaptopyruvate sulfurtransferase							43.0	34.0	37.0					22																	37425477		2203	4300	6503	SO:0001819	synonymous_variant	4357				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity	g.chr22:37425477C>T	X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.816C>T	22.37:g.37425477C>T						MPST_ENST00000397129.1_Silent_p.Y292Y|MPST_ENST00000429360.2_Silent_p.Y272Y|MPST_ENST00000404802.3_Silent_p.Y272Y|MPST_ENST00000341116.3_Silent_p.Y272Y|MPST_ENST00000401419.3_Silent_p.Y272Y|MPST_ENST00000404393.1_3'UTR	p.Y272Y			P25325	THTM_HUMAN			3	1731	+			272			Rhodanese 2.		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Silent	SNP	ENST00000397225.2	37	c.816C>T	CCDS13939.1	.	.	.	.	.	.	.	.	.	.	C	0.343	-0.949499	0.02304	.	.	ENSG00000128309	ENST00000446076	.	.	.	5.75	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	26.7619	0.99997	0.0:0.7325:0.0:0.2675	.	.	.	.	.	-1	.	.	.	+	.	.	MPST	35755423	0.000000	0.05858	0.008000	0.14137	0.150000	0.21749	-5.019000	0.00159	-2.883000	0.00318	-1.027000	0.02421	.		0.657	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		12	17	0	0	0	1	0	12	17				
FBXO47	494188	broad.mit.edu	37	17	37118182	37118182	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118182C>T	ENST00000378079.2	-	3	499	c.300G>A	c.(298-300)gaG>gaA	p.E100E		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	100										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGTCAGGCAGCTCAAGGTTAT	0.383																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(298-300)gaG>gaA		F-box protein 47							192.0	179.0	183.0					17																	37118182		2203	4300	6503	SO:0001819	synonymous_variant	494188							g.chr17:37118182C>T		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.300G>A	17.37:g.37118182C>T							p.E100E	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			3	499	-			100					B2RTZ4	Silent	SNP	ENST00000378079.2	37	c.300G>A	CCDS32639.1																																																																																				0.383	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		39	71	0	0	0	1	0	39	71				
ANKEF1	63926	broad.mit.edu	37	20	10026343	10026343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10026343G>A	ENST00000378380.3	+	5	1147	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	273							calcium ion binding (GO:0005509)	p.R273Q(1)									ATAGCTCAGCGAGGTAAAATT	0.408																																						ENST00000378380.3																			1	Substitution - Missense(1)	p.R273Q(1)	prostate(1)								c.(817-819)cGa>cAa		ankyrin repeat and EF-hand domain containing 1							84.0	83.0	83.0					20																	10026343		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10026343G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.818G>A	20.37:g.10026343G>A	ENSP00000367631:p.Arg273Gln					SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	p.R273Q	NM_198798.1	NP_942093.1					5	1147	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.818G>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352161	0.95830	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.64618	-0.11;-0.11	5.97	5.97	0.96955	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66118	-0.6003	10	0.13108	T	0.6	-13.4612	20.4209	0.99038	0.0:0.0:1.0:0.0	.	273	Q9NU02	ANKR5_HUMAN	Q	273	ENSP00000367644:R273Q;ENSP00000367631:R273Q	ENSP00000367631:R273Q	R	+	2	0	ANKRD5	9974343	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.446000	0.90329	2.823000	0.97156	0.591000	0.81541	CGA		0.408	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		7	56	0	0	0	1	0	7	56				
SLC5A8	160728	broad.mit.edu	37	12	101598314	101598314	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101598314A>G	ENST00000536262.2	-	2	939	c.381T>C	c.(379-381)gtT>gtC	p.V127V		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAGACGAACACATTTGT	0.333																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(379-381)gtT>gtC		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							61.0	62.0	61.0					12																	101598314		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101598314A>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.381T>C	12.37:g.101598314A>G							p.V127V	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			2	939	-			127						Silent	SNP	ENST00000536262.2	37	c.381T>C	CCDS9080.1																																																																																				0.333	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		6	50	0	0	0	1	0	6	50				
HAUS5	23354	broad.mit.edu	37	19	36110348	36110348	+	Missense_Mutation	SNP	G	G	A	rs373502194	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36110348G>A	ENST00000203166.5	+	14	1227	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	401					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GAACAGGTCCGCCTGCTCATC	0.632													G|||	3	0.000599042	0.0	0.0	5008	,	,		1445	0.0		0.0	False		,,,				2504	0.0031					ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1201-1203)cGc>cAc		HAUS augmin-like complex, subunit 5		G	HIS/ARG	1,3983		0,1,1991	35.0	43.0	40.0		1202	5.1	1.0	19		40	0,8302		0,0,4151	no	missense	HAUS5	NM_015302.1	29	0,1,6142	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	401/634	36110348	1,12285	1992	4151	6143	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36110348G>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1202G>A	19.37:g.36110348G>A	ENSP00000439056:p.Arg401His					HAUS5_ENST00000379045.2_3'UTR	p.R401H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			14	1227	+			401					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1202G>A	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526880	0.85706	2.51E-4	0.0	ENSG00000249115	ENST00000203166	T	0.36340	1.26	5.05	5.05	0.67936	.	0.062230	0.64402	N	0.000005	T	0.58595	0.2133	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61163	-0.7118	10	0.72032	D	0.01	-13.008	13.7698	0.63018	0.0:0.0:1.0:0.0	.	401	O94927	HAUS5_HUMAN	H	401	ENSP00000439056:R401H	ENSP00000439056:R401H	R	+	2	0	HAUS5	40802188	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.206000	0.51098	2.630000	0.89119	0.563000	0.77884	CGC		0.632	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			18	22	0	0	0	1	0	18	22				
KCNK9	51305	broad.mit.edu	37	8	140631313	140631313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:140631313C>T	ENST00000520439.1	-	2	376	c.313G>A	c.(313-315)Gcg>Acg	p.A105T	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.A105T	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	105					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GCCTTGCCCGCATCGGTGCCA	0.607																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(313-315)Gcg>Acg		potassium channel, subfamily K, member 9							61.0	54.0	56.0					8																	140631313		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631313C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.313G>A	8.37:g.140631313C>T	ENSP00000430676:p.Ala105Thr					KCNK9_ENST00000303015.1_Missense_Mutation_p.A105T	p.A105T			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	376	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	105					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.313G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693628	0.88735	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.33216	1.42;1.42;1.42	5.73	5.73	0.89815	Ion transport 2 (1);	0.057994	0.64402	N	0.000002	T	0.50871	0.1641	L	0.52011	1.625	0.80722	D	1	D	0.63046	0.992	D	0.66351	0.943	T	0.44651	-0.9314	10	0.59425	D	0.04	.	18.8824	0.92362	0.0:1.0:0.0:0.0	.	105	Q9NPC2	KCNK9_HUMAN	T	105	ENSP00000429847:A105T;ENSP00000302166:A105T;ENSP00000430676:A105T	ENSP00000302166:A105T	A	-	1	0	KCNK9	140700495	1.000000	0.71417	0.971000	0.41717	0.808000	0.45660	7.616000	0.83018	2.692000	0.91855	0.655000	0.94253	GCG		0.607	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		9	17	0	0	0	1	0	9	17				
BCR	613	broad.mit.edu	37	22	23596045	23596045	+	Missense_Mutation	SNP	C	C	T	rs368824679		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23596045C>T	ENST00000305877.8	+	2	2090	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	BCR_ENST00000359540.3_Missense_Mutation_p.R447C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	447					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AGAGGAGCAGCGCCGGCACCA	0.627			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1339-1341)Cgc>Tgc		breakpoint cluster region		C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	62.0	53.0	56.0		1339,1339	3.1	1.0	22		56	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BCR	NM_004327.3,NM_021574.2	180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	447/1272,447/1228	23596045	1,13001	2202	4299	6501	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23596045C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1339C>T	22.37:g.23596045C>T	ENSP00000303507:p.Arg447Cys					BCR_ENST00000359540.3_Missense_Mutation_p.R447C	p.R447C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			2	2090	+			447					P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.1339C>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758821	0.89843	0.0	1.16E-4	ENSG00000186716	ENST00000305877;ENST00000359540	T;T	0.31510	1.52;1.49	5.37	3.12	0.35913	.	0.139385	0.47852	D	0.000211	T	0.36580	0.0972	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.998	P;P;P	0.59424	0.487;0.857;0.724	T	0.25606	-1.0127	10	0.87932	D	0	.	11.7493	0.51839	0.1369:0.7307:0.1324:0.0	.	36;447;447	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	C	447	ENSP00000303507:R447C;ENSP00000352535:R447C	ENSP00000303507:R447C	R	+	1	0	BCR	21926045	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.656000	0.24948	1.385000	0.46445	0.591000	0.81541	CGC		0.627	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		23	34	0	0	0	1	0	23	34				
OR5K1	26339	broad.mit.edu	37	3	98188949	98188949	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188949T>G	ENST00000332650.5	+	1	626	c.529T>G	c.(529-531)Ttt>Gtt	p.F177V		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCAACCACTTTTACTGTGA	0.398																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(529-531)Ttt>Gtt		olfactory receptor, family 5, subfamily K, member 1							254.0	257.0	256.0					3																	98188949		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188949T>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.529T>G	3.37:g.98188949T>G	ENSP00000373193:p.Phe177Val						p.F177V	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	626	+			177					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.529T>G	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.976982	0.34848	.	.	ENSG00000232382	ENST00000332650	T	0.00350	7.98	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000490	T	0.00936	0.0031	M	0.91717	3.235	0.09310	N	1	D	0.55385	0.971	P	0.60949	0.881	T	0.31475	-0.9942	10	0.52906	T	0.07	-16.2381	13.2379	0.59979	0.0:0.0:0.0:1.0	.	177	Q8NHB7	OR5K1_HUMAN	V	177	ENSP00000373193:F177V	ENSP00000373193:F177V	F	+	1	0	OR5K1	99671639	.	.	0.772000	0.31596	0.231000	0.25187	.	.	2.009000	0.58944	0.460000	0.39030	TTT		0.398	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			16	208	0	0	0	1	0	16	208				
FBXO40	51725	broad.mit.edu	37	3	121340550	121340550	+	Missense_Mutation	SNP	G	G	A	rs148128733	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121340550G>A	ENST00000338040.4	+	3	688	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	92					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCCGCCAGCGTGGTCTGCTG	0.567													G|||	3	0.000599042	0.0	0.0	5008	,	,		20512	0.0		0.003	False		,,,				2504	0.0					ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(274-276)Gtg>Atg		F-box protein 40		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	56.0	59.0	58.0		274	3.7	1.0	3	dbSNP_134	58	6,8594	5.0+/-18.6	0,6,4294	yes	missense	FBXO40	NM_016298.3	21	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	probably-damaging	92/710	121340550	7,12999	2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340550G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.274G>A	3.37:g.121340550G>A	ENSP00000337510:p.Val92Met						p.V92M	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	688	+			92					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.274G>A	CCDS33835.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.34	2.804506	0.50315	2.27E-4	6.98E-4	ENSG00000163833	ENST00000338040	T	0.45276	0.9	5.47	3.69	0.42338	Zinc finger, TRAF-type (1);Seven In Absentia Homolog-type (1);	0.203960	0.43416	D	0.000564	T	0.60996	0.2312	M	0.81802	2.56	0.40728	D	0.982721	D	0.65815	0.995	D	0.64237	0.923	T	0.64639	-0.6360	10	0.87932	D	0	-5.6392	9.8156	0.40851	0.1668:0.0:0.8332:0.0	.	92	Q9UH90	FBX40_HUMAN	M	92	ENSP00000337510:V92M	ENSP00000337510:V92M	V	+	1	0	FBXO40	122823240	1.000000	0.71417	0.951000	0.38953	0.963000	0.63663	4.068000	0.57534	0.704000	0.31869	-0.136000	0.14681	GTG		0.567	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		23	30	0	0	0	1	0	23	30				
ATP2B3	492	broad.mit.edu	37	X	152806914	152806914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152806914G>A	ENST00000349466.2	+	3	632	c.306G>A	c.(304-306)gtG>gtA	p.V102V	ATP2B3_ENST00000359149.3_Silent_p.V102V|ATP2B3_ENST00000370181.2_Silent_p.V102V|ATP2B3_ENST00000393842.1_Silent_p.V102V|ATP2B3_ENST00000370186.1_Silent_p.V102V|ATP2B3_ENST00000263519.4_Silent_p.V102V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	102					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTGGTGTGGGAGGCCC	0.612																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(304-306)gtG>gtA		ATPase, Ca++ transporting, plasma membrane 3							144.0	111.0	122.0					X																	152806914		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152806914G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.306G>A	X.37:g.152806914G>A						ATP2B3_ENST00000370181.2_Silent_p.V102V|ATP2B3_ENST00000359149.3_Silent_p.V102V|ATP2B3_ENST00000393842.1_Silent_p.V102V|ATP2B3_ENST00000349466.2_Silent_p.V102V|ATP2B3_ENST00000263519.4_Silent_p.V102V	p.V102V			Q16720	AT2B3_HUMAN			3	632	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		102					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.306G>A	CCDS35440.1																																																																																				0.612	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		17	37	0	0	0	1	0	17	37				
MOGS	7841	broad.mit.edu	37	2	74689080	74689080	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689080C>T	ENST00000233616.4	-	4	1998	c.1836G>A	c.(1834-1836)acG>acA	p.T612T	MOGS_ENST00000452063.2_Silent_p.T506T|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	612					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGCCAGCCGCGTCAGCACAC	0.657																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1834-1836)acG>acA		mannosyl-oligosaccharide glucosidase							48.0	56.0	53.0					2																	74689080		2138	4252	6390	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689080C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1836G>A	2.37:g.74689080C>T						MOGS_ENST00000452063.2_Silent_p.T506T|MOGS_ENST00000409065.1_3'UTR	p.T612T	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1998	-			612					A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.1836G>A	CCDS42700.1																																																																																				0.657	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		23	40	0	0	0	1	0	23	40				
ACHE	43	broad.mit.edu	37	7	100490882	100490882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100490882G>A	ENST00000412389.1	-	1	1127	c.972C>T	c.(970-972)agC>agT	p.S324S	ACHE_ENST00000411582.1_Silent_p.S324S|ACHE_ENST00000241069.5_Silent_p.S324S|ACHE_ENST00000428317.1_Silent_p.S324S|ACHE_ENST00000419336.2_Silent_p.S324S|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000302913.4_Silent_p.S324S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	324					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	ACCGGAAGACGCTTTCTTGAG	0.602																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(970-972)agC>agT		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						105.0	77.0	87.0					7																	100490882		2203	4300	6503	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490882G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.972C>T	7.37:g.100490882G>A						ACHE_ENST00000241069.5_Silent_p.S324S|ACHE_ENST00000419336.2_Silent_p.S324S|ACHE_ENST00000412389.1_Silent_p.S324S|ACHE_ENST00000411582.1_Silent_p.S324S|ACHE_ENST00000428317.1_Silent_p.S324S	p.S324S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	1110	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		324					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.972C>T	CCDS5709.1																																																																																				0.602	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		9	36	0	0	0	1	0	9	36				
CDC37	11140	broad.mit.edu	37	19	10503785	10503785	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503785C>T	ENST00000222005.2	-	7	1011	c.958G>A	c.(958-960)Gcc>Acc	p.A320T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	320					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.A320T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTGCTGATGGCGTCCTGCAGC	0.662																																						ENST00000222005.2																			1	Substitution - Missense(1)	p.A320T(1)	kidney(1)	breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(958-960)Gcc>Acc		cell division cycle 37							55.0	52.0	53.0					19																	10503785		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10503785C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.958G>A	19.37:g.10503785C>T	ENSP00000222005:p.Ala320Thr						p.A320T	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	7	1011	-			320					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.958G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	3.509	-0.100148	0.07010	.	.	ENSG00000105401	ENST00000222005	T	0.44083	0.93	3.8	1.15	0.20763	Cdc37, C-terminal (1);	0.279785	0.34750	N	0.003716	T	0.08447	0.0210	N	0.00885	-1.115	0.33546	D	0.595461	B;B;B	0.30104	0.004;0.002;0.268	B;B;B	0.16289	0.001;0.001;0.015	T	0.36456	-0.9747	10	0.02654	T	1	.	4.4929	0.11822	0.0:0.5282:0.0:0.4718	.	320;320;52	Q6FG59;Q16543;A1L0W4	.;CDC37_HUMAN;.	T	320	ENSP00000222005:A320T	ENSP00000222005:A320T	A	-	1	0	CDC37	10364785	0.966000	0.33281	0.971000	0.41717	0.787000	0.44495	2.092000	0.41700	0.728000	0.32382	0.462000	0.41574	GCC		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		4	44	0	0	0	1	0	4	44				
CUL2	8453	broad.mit.edu	37	10	35351961	35351961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35351961G>T	ENST00000374748.1	-	4	462	c.149C>A	c.(148-150)cCt>cAt	p.P50H	CUL2_ENST00000374746.1_Missense_Mutation_p.P50H|CUL2_ENST00000374751.3_Missense_Mutation_p.P50H|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000374749.3_Missense_Mutation_p.P50H|CUL2_ENST00000374742.1_Missense_Mutation_p.P50H|CUL2_ENST00000602371.1_Missense_Mutation_p.L8M|CUL2_ENST00000537177.1_Missense_Mutation_p.P69H			Q13617	CUL2_HUMAN	cullin 2	50					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGGGGTTCAGGATAGGCCAC	0.303																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(148-150)cCt>cAt		cullin 2							71.0	72.0	72.0					10																	35351961		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35351961G>T	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.149C>A	10.37:g.35351961G>T	ENSP00000363880:p.Pro50His					CUL2_ENST00000374749.3_Missense_Mutation_p.P50H|CUL2_ENST00000602371.1_Missense_Mutation_p.L8M|CUL2_ENST00000537177.1_Missense_Mutation_p.P69H|CUL2_ENST00000374746.1_Missense_Mutation_p.P50H|CUL2_ENST00000374742.1_Missense_Mutation_p.P50H|CUL2_ENST00000374751.3_Missense_Mutation_p.P50H	p.P50H			Q13617	CUL2_HUMAN			4	462	-			50					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.149C>A	CCDS7179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.897016|4.897016	0.91962|0.91962	.|.	.|.	ENSG00000108094|ENSG00000108094	ENST00000374754|ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	.|T;T;T;T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55162|0.55162	0.1903|0.1903	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.54186|0.54186	-0.8331|-0.8331	6|10	0.72032|0.66056	D|D	0.01|0.02	-14.3234|-14.3234	19.6932|19.6932	0.96010|0.96010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|50;69;50	.|Q5T2B5;G3V1S2;Q13617	.|.;.;CUL2_HUMAN	M|H	8|50;50;50;50;50;69;50	.|ENSP00000363883:P50H;ENSP00000363880:P50H;ENSP00000363878:P50H;ENSP00000363881:P50H;ENSP00000363874:P50H;ENSP00000444856:P69H;ENSP00000414095:P50H	ENSP00000363886:L8M|ENSP00000363874:P50H	L|P	-|-	1|2	2|0	CUL2|CUL2	35391967|35391967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.756000|9.756000	0.98918|0.98918	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.303	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		5	72	1	0	0.184627	1	0.186383	5	72				
ZNF555	148254	broad.mit.edu	37	19	2853330	2853330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853330C>T	ENST00000334241.4	+	4	1405	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P422S	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGAGAAACCCTATGAGTG	0.453																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(1267-1269)Ccc>Tcc		zinc finger protein 555							67.0	54.0	59.0					19																	2853330		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853330C>T	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1267C>T	19.37:g.2853330C>T	ENSP00000334853:p.Pro423Ser					ZNF555_ENST00000591539.1_Missense_Mutation_p.P422S|AC006130.3_ENST00000589365.1_RNA	p.P423S	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1405	+			423					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1267C>T	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954867	0.73902	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.16743	2.32	3.22	3.22	0.36961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35393	0.0930	M	0.71920	2.185	0.30450	N	0.775387	D;P	0.69078	0.997;0.935	P;B	0.59889	0.865;0.437	T	0.28870	-1.0030	9	0.72032	D	0.01	.	12.2446	0.54563	0.0:1.0:0.0:0.0	.	423;422	Q8NEP9;A8KA89	ZN555_HUMAN;.	S	423;422	ENSP00000334853:P423S	ENSP00000334853:P423S	P	+	1	0	ZNF555	2804330	0.156000	0.22821	0.692000	0.30179	0.937000	0.57800	3.283000	0.51701	1.799000	0.52666	0.561000	0.74099	CCC		0.453	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		7	15	0	0	0	1	0	7	15				
PHC3	80012	broad.mit.edu	37	3	169863247	169863247	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863247C>T	ENST00000494943.1	-	6	668	c.600G>A	c.(598-600)tcG>tcA	p.S200S	PHC3_ENST00000467570.1_Silent_p.S159S|PHC3_ENST00000495893.2_Silent_p.S212S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	200	Ser-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGACGATGACGACGAGACAA	0.438																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(598-600)tcG>tcA		polyhomeotic homolog 3 (Drosophila)							102.0	107.0	105.0					3																	169863247		2045	4203	6248	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169863247C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.600G>A	3.37:g.169863247C>T						PHC3_ENST00000467570.1_Silent_p.S159S|PHC3_ENST00000495893.1_Silent_p.S212S	p.S200S			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		6	668	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		200			Ser-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.600G>A																																																																																					0.438	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		12	15	0	0	0	1	0	12	15				
SEMA3D	223117	broad.mit.edu	37	7	84636118	84636118	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84636118C>A	ENST00000284136.6	-	16	1951	c.1908G>T	c.(1906-1908)gaG>gaT	p.E636D	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	636	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACAGCTTACCTCCTCTCGAT	0.373																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.e16+1		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							225.0	208.0	214.0					7																	84636118		2203	4299	6502	SO:0001630	splice_region_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84636118C>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1908+1G>T	7.37:g.84636118C>A						SEMA3D_ENST00000484038.1_5'UTR	p.E636_splice	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			16	1951	-			636			Ig-like C2-type.		A6NK46|Q6UW77|Q8NCQ1	Splice_Site	SNP	ENST00000284136.6	37	c.1908_splice	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338309	0.95783	.	.	ENSG00000153993	ENST00000284136	T	0.64991	-0.13	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81847	0.4909	M	0.83312	2.635	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.81147	-0.1065	8	.	.	.	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	636	O95025	SEM3D_HUMAN	D	636	ENSP00000284136:E636D	.	E	-	3	2	SEMA3D	84474054	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.530000	0.81962	2.861000	0.98227	0.650000	0.86243	GAG		0.373	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	Missense_Mutation	14	296	1	0	5.01169e-05	1	5.58345e-05	14	296				
DNAJC19	131118	broad.mit.edu	37	3	180705837	180705837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180705837G>A	ENST00000382564.2	-	3	273	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	DNAJC19_ENST00000479269.1_Nonsense_Mutation_p.Q10*|DNAJC19_ENST00000491873.1_Nonsense_Mutation_p.Q10*|DNAJC19_ENST00000486355.1_Nonsense_Mutation_p.Q35*	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	35					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TGAAAAACTTGTTTTACTTGA	0.378																																						ENST00000382564.2																			0				large_intestine(2)|lung(1)	3						c.(103-105)Caa>Taa		DnaJ (Hsp40) homolog, subfamily C, member 19							90.0	89.0	89.0					3																	180705837		2203	4300	6503	SO:0001587	stop_gained	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180705837G>A		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.103C>T	3.37:g.180705837G>A	ENSP00000372005:p.Gln35*					DNAJC19_ENST00000479269.1_Nonsense_Mutation_p.Q10*|DNAJC19_ENST00000486355.1_Nonsense_Mutation_p.Q35*|DNAJC19_ENST00000491873.1_Nonsense_Mutation_p.Q10*	p.Q35*	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		3	273	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		35					B2R4B1|C9JBV1	Nonsense_Mutation	SNP	ENST00000382564.2	37	c.103C>T	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686243	0.96784	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-7.145	16.8766	0.86053	0.0:0.0:1.0:0.0	.	.	.	.	X	35;10;10	.	ENSP00000372005:Q35X	Q	-	1	0	DNAJC19	182188531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.717000	0.84732	2.716000	0.92895	0.655000	0.94253	CAA		0.378	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		19	40	0	0	0	1	0	19	40				
ZNF721	170960	broad.mit.edu	37	4	438011	438011	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:438011T>C	ENST00000338977.5	-	2	257	c.209A>G	c.(208-210)cAa>cGa	p.Q70R	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Q82R|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGCATTACATTGAAATATTTT	0.318																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(208-210)cAa>cGa		zinc finger protein 721							61.0	68.0	66.0					4																	438011		2034	4230	6264	SO:0001583	missense	170960							g.chr4:438011T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.209A>G	4.37:g.438011T>C	ENSP00000340524:p.Gln70Arg					ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Q82R|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron	p.Q70R							2	257	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.209A>G		.	.	.	.	.	.	.	.	.	.	T	11.80	1.745611	0.30955	.	.	ENSG00000182903	ENST00000338977;ENST00000511833;ENST00000505900	T;T;T	0.28255	3.33;3.34;1.62	0.459	0.459	0.16678	.	.	.	.	.	T	0.21145	0.0509	L	0.55103	1.725	0.09310	N	1	B;B;P	0.34977	0.054;0.347;0.478	B;B;B	0.23716	0.004;0.022;0.048	T	0.12889	-1.0530	9	0.35671	T	0.21	.	5.1663	0.15086	0.0:1.0E-4:0.0:0.9999	.	70;82;82	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	R	70;82;114	ENSP00000340524:Q70R;ENSP00000428878:Q82R;ENSP00000421325:Q114R	ENSP00000340524:Q70R	Q	-	2	0	ZNF721	428011	0.640000	0.27243	0.054000	0.19295	0.218000	0.24690	0.502000	0.22594	0.414000	0.25790	0.172000	0.16884	CAA		0.318	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	68	0	0	0	1	0	6	68				
BAIAP2L1	55971	broad.mit.edu	37	7	97944811	97944811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97944811G>A	ENST00000005260.8	-	7	815	c.600C>T	c.(598-600)caC>caT	p.H200H	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	200	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGCCACAGTGCTTATCAA	0.408																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(598-600)caC>caT		BAI1-associated protein 2-like 1							132.0	131.0	131.0					7																	97944811		2203	4300	6503	SO:0001819	synonymous_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97944811G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.600C>T	7.37:g.97944811G>A						BAIAP2L1_ENST00000462558.1_5'UTR	p.H200H	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	815	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		200			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.600C>T	CCDS34687.1																																																																																				0.408	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		18	195	0	0	0	1	0	18	195				
RNF138	51444	broad.mit.edu	37	18	29691857	29691857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29691857G>A	ENST00000261593.3	+	3	709	c.251G>A	c.(250-252)gGt>gAt	p.G84D	RNF138_ENST00000585103.1_Intron|RP11-53I6.2_ENST00000583184.1_RNA|RNF138_ENST00000257190.5_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	84					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGTTTTCTGGTAGCTGCAGA	0.413																																						ENST00000261593.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(250-252)gGt>gAt		ring finger protein 138, E3 ubiquitin protein ligase							80.0	74.0	76.0					18																	29691857		2203	4300	6503	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29691857G>A	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.251G>A	18.37:g.29691857G>A	ENSP00000261593:p.Gly84Asp					RNF138_ENST00000585103.1_Intron|RNF138_ENST00000257190.5_Intron	p.G84D	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN			3	709	+			84					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.251G>A	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655393	0.47467	.	.	ENSG00000134758	ENST00000261593	D	0.88201	-2.35	5.71	5.71	0.89125	.	0.203247	0.43747	D	0.000540	D	0.93680	0.7981	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.93254	0.6637	10	0.54805	T	0.06	-21.0768	19.8398	0.96678	0.0:0.0:1.0:0.0	.	84	Q8WVD3	RN138_HUMAN	D	84	ENSP00000261593:G84D	ENSP00000261593:G84D	G	+	2	0	RNF138	27945855	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.425000	0.73370	2.694000	0.91930	0.591000	0.81541	GGT		0.413	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		20	31	0	0	0	1	0	20	31				
DNAI1	27019	broad.mit.edu	37	9	34514703	34514703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514703C>A	ENST00000242317.4	+	18	1955	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	595					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCATACTCTTCTACTGTGTTC	0.567									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1783-1785)tCt>tAt		dynein, axonemal, intermediate chain 1							152.0	139.0	143.0					9																	34514703		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514703C>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1784C>A	9.37:g.34514703C>A	ENSP00000242317:p.Ser595Tyr						p.S595Y	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	18	1955	+	all_epithelial(49;0.244)		595					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1784C>A	CCDS6557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.459672|4.459672	0.84317|0.84317	.|.	.|.	ENSG00000122735|ENSG00000122735	ENST00000442556|ENST00000379040;ENST00000242317	.|T	.|0.71817	.|-0.6	5.14|5.14	5.14|5.14	0.70334|0.70334	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.062517	.|0.64402	.|D	.|0.000002	D|D	0.84524|0.84524	0.5491|0.5491	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	.|D	.|0.55800	.|0.973	.|P	.|0.57776	.|0.827	D|D	0.87620|0.87620	0.2509|0.2509	5|10	.|0.72032	.|D	.|0.01	.|.	13.9765|13.9765	0.64277|0.64277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|595	.|Q9UI46	.|DNAI1_HUMAN	I|Y	99|151;595	.|ENSP00000242317:S595Y	.|ENSP00000242317:S595Y	L|S	+|+	1|2	2|0	DNAI1|DNAI1	34504703|34504703	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	6.794000|6.794000	0.75135|0.75135	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	CTA|TCT		0.567	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			8	81	1	0	0.00448238	1	0.00472561	8	81				
KCNU1	157855	broad.mit.edu	37	8	36793350	36793350	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:36793350C>A	ENST00000399881.3	+	27	3399	c.3362C>A	c.(3361-3363)cCt>cAt	p.P1121H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1121					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTCAGATACCTTTAGGTGAC	0.388																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(3361-3363)cCt>cAt		potassium channel, subfamily U, member 1							114.0	111.0	112.0					8																	36793350		1867	4104	5971	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793350C>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3362C>A	8.37:g.36793350C>A	ENSP00000382770:p.Pro1121His						p.P1121H	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3399	+			1121						Missense_Mutation	SNP	ENST00000399881.3	37	c.3362C>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	2.487	-0.318304	0.05386	.	.	ENSG00000215262	ENST00000399881	T	0.34859	1.34	4.59	-6.06	0.02165	.	.	.	.	.	T	0.16599	0.0399	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20438	-1.0275	9	0.31617	T	0.26	.	1.7743	0.03018	0.2356:0.2139:0.0822:0.4683	.	1121	A8MYU2	KCNU1_HUMAN	H	1121	ENSP00000382770:P1121H	ENSP00000382770:P1121H	P	+	2	0	KCNU1	36912508	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.432000	0.06956	-1.116000	0.02969	-1.202000	0.01658	CCT		0.388	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		7	89	1	0	0.00198382	1	0.00210581	7	89				
PDGFRA	5156	broad.mit.edu	37	4	55161339	55161339	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161339C>T	ENST00000257290.5	+	23	3501	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S817F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1057	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TCCAGCAGTTCCACCTTCATC	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(3169-3171)tCc>tTc		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						147.0	130.0	136.0					4																	55161339		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55161339C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3170C>T	4.37:g.55161339C>T	ENSP00000257290:p.Ser1057Phe	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.S817F	p.S1057F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		23	3501	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1057			Ser-rich.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.3170C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807906	0.90623	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.79141	-1.24;-1.09	5.75	5.75	0.90469	.	0.000000	0.31909	U	0.006863	D	0.86146	0.5863	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85642	0.1277	10	0.54805	T	0.06	.	19.9335	0.97129	0.0:1.0:0.0:0.0	.	1057	P16234	PGFRA_HUMAN	F	817;1057	ENSP00000423325:S817F;ENSP00000257290:S1057F	ENSP00000423325:S817F	S	+	2	0	FIP1L1;PDGFRA	54856096	1.000000	0.71417	0.981000	0.43875	0.953000	0.61014	7.487000	0.81328	2.722000	0.93159	0.462000	0.41574	TCC		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		31	47	0	0	0	1	0	31	47				
PRAMEF12	390999	broad.mit.edu	37	1	12837158	12837158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12837158C>A	ENST00000357726.4	+	3	895	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	290					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGTGTCTCCAGGCCCC	0.527																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(868-870)Ctc>Atc		PRAME family member 12							119.0	129.0	126.0					1																	12837158		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837158C>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.868C>A	1.37:g.12837158C>A	ENSP00000350358:p.Leu290Ile						p.L290I	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	895	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	290						Missense_Mutation	SNP	ENST00000357726.4	37	c.868C>A	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	15.28	2.785423	0.49997	.	.	ENSG00000116726	ENST00000357726	T	0.63744	-0.06	2.83	1.91	0.25777	.	0.000000	0.64402	D	0.000012	T	0.79046	0.4380	M	0.92367	3.3	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.67007	-0.5779	10	0.87932	D	0	.	4.8644	0.13600	0.0:0.7107:0.0:0.2893	.	290	O95522	PRA12_HUMAN	I	290	ENSP00000350358:L290I	ENSP00000350358:L290I	L	+	1	0	PRAMEF12	12759745	0.011000	0.17503	0.006000	0.13384	0.437000	0.31866	0.621000	0.24418	0.747000	0.32809	0.205000	0.17691	CTC		0.527	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		63	97	1	0	7.59065e-32	1	1.01804e-31	63	97				
VPS16	64601	broad.mit.edu	37	20	2843290	2843290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2843290C>T	ENST00000380445.3	+	12	1209	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	VPS16_ENST00000380443.3_Silent_p.A33A|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	379					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGACCCAGGCCGTGCAGCAGT	0.647																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1135-1137)gcC>gcT		vacuolar protein sorting 16 homolog (S. cerevisiae)							44.0	48.0	46.0					20																	2843290		2202	4300	6502	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843290C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1137C>T	20.37:g.2843290C>T						VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Silent_p.A33A	p.A379A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			12	1209	+			379					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.1137C>T	CCDS13036.1																																																																																				0.647	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		18	28	0	0	0	1	0	18	28				
MOCS1	4337	broad.mit.edu	37	6	39895295	39895295	+	Intron	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39895295C>T	ENST00000340692.5	-	2	127				MOCS1_ENST00000432280.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373186.4_Missense_Mutation_p.R8H|MOCS1_ENST00000373175.4_Missense_Mutation_p.R8H|MOCS1_ENST00000425303.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000308559.7_Intron			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1						Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACATCTGTGCGGAGCTTCCA	0.592																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(22-24)cGc>cAc		molybdenum cofactor synthesis 1							60.0	57.0	58.0					6																	39895295		2203	4300	6503	SO:0001627	intron_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39895295C>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.124-101G>A	6.37:g.39895295C>T						MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000432280.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000425303.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373175.4_Missense_Mutation_p.R8H|MOCS1_ENST00000340692.5_Intron	p.R8H	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			1	160	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		0			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.23G>A		.	.	.	.	.	.	.	.	.	.	C	10.09	1.254503	0.22965	.	.	ENSG00000124615	ENST00000373186;ENST00000373175;ENST00000425303;ENST00000432280	T	0.30981	1.51	3.33	-3.04	0.05412	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41106	-0.9527	7	.	.	.	.	5.143	0.14969	0.0:0.3769:0.1523:0.4709	.	8;8	Q9NZB8-8;Q9NZB8-6	.;.	H	8	ENSP00000416478:R8H	.	R	-	2	0	MOCS1	40003273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.034000	0.03567	-0.819000	0.04323	-0.710000	0.03640	CGC		0.592	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		4	9	0	0	0	1	0	4	9				
ILF3	3609	broad.mit.edu	37	19	10781697	10781697	+	Missense_Mutation	SNP	G	G	T	rs369093369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10781697G>T	ENST00000590261.1	+	2	51	c.51G>T	c.(49-51)aaG>aaT	p.K17N	ILF3_ENST00000592763.1_Missense_Mutation_p.K17N|ILF3_ENST00000588657.1_Missense_Mutation_p.K17N|ILF3_ENST00000589998.1_Missense_Mutation_p.K17N|ILF3_ENST00000318511.3_Missense_Mutation_p.K17N|ILF3_ENST00000449870.1_Missense_Mutation_p.K17N|ILF3_ENST00000420083.1_Missense_Mutation_p.K17N|ILF3_ENST00000250241.8_Missense_Mutation_p.K17N|ILF3_ENST00000407004.3_Missense_Mutation_p.K17N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	17	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGATGGCAAAGCATTCTTCCG	0.488																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(49-51)aaG>aaT		interleukin enhancer binding factor 3, 90kDa							64.0	58.0	60.0					19																	10781697		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781697G>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.51G>T	19.37:g.10781697G>T	ENSP00000468156:p.Lys17Asn					ILF3_ENST00000589998.1_Missense_Mutation_p.K17N|ILF3_ENST00000588657.1_Missense_Mutation_p.K17N|ILF3_ENST00000250241.8_Missense_Mutation_p.K17N|ILF3_ENST00000318511.3_Missense_Mutation_p.K17N|ILF3_ENST00000592763.1_Missense_Mutation_p.K17N|ILF3_ENST00000420083.1_Missense_Mutation_p.K17N|ILF3_ENST00000590261.1_Missense_Mutation_p.K17N|ILF3_ENST00000407004.3_Missense_Mutation_p.K17N	p.K17N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		3	368	+			17					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.51G>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455008	0.63290	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.16	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.88640	2.97	0.53005	D	0.999964	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.996;0.991;0.979;0.997;0.996	T	0.64037	-0.6501	10	0.87932	D	0	.	11.4797	0.50318	0.1846:0.0:0.8154:0.0	.	17;17;17;17;17	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	N	17	ENSP00000404121:K17N;ENSP00000315205:K17N;ENSP00000405436:K17N;ENSP00000384660:K17N;ENSP00000250241:K17N	ENSP00000250241:K17N	K	+	3	2	ILF3	10642697	0.994000	0.37717	0.998000	0.56505	0.848000	0.48234	0.208000	0.17415	0.377000	0.24735	-0.136000	0.14681	AAG		0.488	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			5	15	1	0	2.0095e-06	1	2.31757e-06	5	15				
CD55	1604	broad.mit.edu	37	1	207499017	207499017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207499017C>T	ENST00000367064.3	+	4	787	c.529C>T	c.(529-531)Cca>Tca	p.P177S	CD55_ENST00000367063.2_Missense_Mutation_p.P177S|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.P177S|CD55_ENST00000391920.4_Missense_Mutation_p.P177S|CD55_ENST00000391921.4_Missense_Mutation_p.P113S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.P177S|CD55_ENST00000367062.4_Missense_Mutation_p.P177S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	177	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GATTGATGTACCAGGTGGCAT	0.343																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(529-531)Cca>Tca		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						186.0	180.0	182.0					1																	207499017		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207499017C>T	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.529C>T	1.37:g.207499017C>T	ENSP00000356031:p.Pro177Ser					CD55_ENST00000367063.2_Missense_Mutation_p.P177S|CD55_ENST00000367065.5_Missense_Mutation_p.P177S|CD55_ENST00000391921.4_Missense_Mutation_p.P113S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_Missense_Mutation_p.P177S|CD55_ENST00000391920.4_Missense_Mutation_p.P177S|CD55_ENST00000314754.8_Missense_Mutation_p.P177S	p.P177S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN			4	787	+			177			Sushi 3.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.529C>T	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	C	4.511	0.094877	0.08681	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.5	-11.0	0.00169	Complement control module (2);Sushi/SCR/CCP (3);	1.537030	0.03779	N	0.261068	T	0.39708	0.1088	N	0.25426	0.745	0.24151	N	0.995696	B;B;B;B;B	0.30406	0.022;0.104;0.023;0.278;0.009	B;B;B;B;B	0.24541	0.022;0.037;0.034;0.054;0.04	T	0.24297	-1.0164	10	0.15066	T	0.55	.	9.9845	0.41832	0.1261:0.6269:0.1698:0.0772	.	113;177;177;177;177	B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;DAF_HUMAN;.	S	177;177;113;113;177;177;177;177	ENSP00000356031:P177S;ENSP00000356030:P177S;ENSP00000375788:P113S;ENSP00000316333:P177S;ENSP00000356032:P177S;ENSP00000375787:P177S;ENSP00000356029:P177S	ENSP00000316333:P177S	P	+	1	0	CD55	205565640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.332000	0.00509	-4.247000	0.00062	-2.945000	0.00085	CCA		0.343	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		20	101	0	0	0	1	0	20	101				
TMEM106A	113277	broad.mit.edu	37	17	41367929	41367929	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41367929T>C	ENST00000331615.3	+	5	635	c.398T>C	c.(397-399)tTt>tCt	p.F133S	LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.F85S|TMEM106A_ENST00000536052.1_Missense_Mutation_p.F133S|TMEM106A_ENST00000588659.1_Missense_Mutation_p.F133S	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	133						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		ACAGTGGCCTTTGATGAGGCT	0.542																																						ENST00000331615.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(397-399)tTt>tCt		transmembrane protein 106A							193.0	170.0	178.0					17																	41367929		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41367929T>C	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.398T>C	17.37:g.41367929T>C	ENSP00000330774:p.Phe133Ser					TMEM106A_ENST00000588659.1_Missense_Mutation_p.F133S|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.F85S|TMEM106A_ENST00000536052.1_Missense_Mutation_p.F133S	p.F133S	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	5	635	+		Breast(137;0.0164)	133					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.398T>C	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455596	0.43634	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.26957	1.7;1.7;1.7	5.32	2.95	0.34219	.	0.311085	0.35436	N	0.003205	T	0.29652	0.0740	M	0.79926	2.475	0.30528	N	0.767689	B;B;B	0.34181	0.44;0.297;0.297	B;B;B	0.37943	0.261;0.142;0.261	T	0.27434	-1.0074	10	0.45353	T	0.12	-19.1697	5.1522	0.15015	0.0:0.0933:0.1815:0.7252	.	133;85;133	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	S	133;133;85	ENSP00000330774:F133S;ENSP00000439835:F133S;ENSP00000439844:F85S	ENSP00000330774:F133S	F	+	2	0	TMEM106A	38723455	0.993000	0.37304	0.380000	0.26093	0.829000	0.46940	2.691000	0.47010	0.970000	0.38263	0.533000	0.62120	TTT		0.542	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		5	189	0	0	0	1	0	5	189				
GLI3	2737	broad.mit.edu	37	7	42004302	42004302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004302C>A	ENST00000395925.3	-	15	4453	c.4369G>T	c.(4369-4371)Gct>Tct	p.A1457S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1457					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATGAACCAGCTTTCGTGTCT	0.517									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(4369-4371)Gct>Tct		GLI family zinc finger 3							63.0	62.0	62.0					7																	42004302		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004302C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4369G>T	7.37:g.42004302C>A	ENSP00000379258:p.Ala1457Ser					GLI3_ENST00000479210.1_5'UTR	p.A1457S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	4453	-			1457					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.4369G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	1.760	-0.486961	0.04352	.	.	ENSG00000106571	ENST00000395925	T	0.13778	2.56	5.62	0.886	0.19194	.	0.619354	0.18040	N	0.153627	T	0.04724	0.0128	N	0.08118	0	0.58432	D	0.999992	B	0.06786	0.001	B	0.06405	0.002	T	0.36890	-0.9729	10	0.07482	T	0.82	.	4.9233	0.13880	0.1713:0.1697:0.0:0.6589	.	1457	P10071	GLI3_HUMAN	S	1457	ENSP00000379258:A1457S	ENSP00000379258:A1457S	A	-	1	0	GLI3	41970827	0.996000	0.38824	0.412000	0.26496	0.285000	0.27093	0.388000	0.20735	0.227000	0.20999	0.655000	0.94253	GCT		0.517	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		17	48	1	0	3.41278e-10	1	4.19267e-10	17	48				
CYFIP1	23191	broad.mit.edu	37	15	22940758	22940758	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22940758T>C	ENST00000313077.7	+	11	1148	c.1023T>C	c.(1021-1023)ccT>ccC	p.P341P	CYFIP1_ENST00000560848.1_Silent_p.P341P	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCCCTCAGTACAACA	0.642																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1021-1023)ccT>ccC		cytoplasmic FMR1 interacting protein 1							44.0	32.0	36.0					15																	22940758		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22940758T>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1023T>C	15.37:g.22940758T>C						CYFIP1_ENST00000560848.1_Silent_p.P341P	p.P341P	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	11	1148	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	341						Silent	SNP	ENST00000313077.7	37	c.1023T>C	CCDS10009.1																																																																																				0.642	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		6	10	0	0	0	1	0	6	10				
CAMK4	814	broad.mit.edu	37	5	110819737	110819737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110819737C>T	ENST00000282356.4	+	11	1393	c.995C>T	c.(994-996)gCt>gTt	p.A332V	CAMK4_ENST00000512453.1_Missense_Mutation_p.A332V|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	332	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCGGTGAAGGCTGTGGTGGCC	0.557																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(994-996)gCt>gTt		calcium/calmodulin-dependent protein kinase IV							34.0	36.0	35.0					5																	110819737		2202	4298	6500	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819737C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.995C>T	5.37:g.110819737C>T	ENSP00000282356:p.Ala332Val					CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A332V	p.A332V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1393	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	332			Calmodulin-binding (Potential).		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.995C>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226104	0.95173	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.69435	-0.4;-0.4	5.81	5.81	0.92471	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.78705	-0.2100	10	0.72032	D	0.01	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	332	Q16566	KCC4_HUMAN	V	332	ENSP00000422634:A332V;ENSP00000282356:A332V	ENSP00000282356:A332V	A	+	2	0	CAMK4	110847636	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.526000	0.67116	2.759000	0.94783	0.591000	0.81541	GCT		0.557	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		19	30	0	0	0	1	0	19	30				
ZSWIM8	23053	broad.mit.edu	37	10	75549186	75549186	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75549186C>A	ENST00000605216.1	+	4	736	c.519C>A	c.(517-519)aaC>aaA	p.N173K	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N173K|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.N173K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N173K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N173K	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	173							zinc ion binding (GO:0008270)										GGGCCTACAACGTGGCTGTGA	0.607																																						ENST00000604729.1																			0											c.(517-519)aaC>aaA		zinc finger, SWIM-type containing 8							49.0	58.0	55.0					10																	75549186		2146	4242	6388	SO:0001583	missense	23053							g.chr10:75549186C>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.519C>A	10.37:g.75549186C>A	ENSP00000474748:p.Asn173Lys					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N173K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N173K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N173K|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.N173K	p.N173K							4	816	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.519C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.166804|3.166804	0.57476|0.57476	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000446546	T|.	0.38077|.	1.16|.	5.23|5.23	-2.94|-2.94	0.05581|0.05581	Zinc finger, SWIM-type (1);|.	.|.	.|.	.|.	.|.	T|T	0.63165|0.63165	0.2488|0.2488	L|L	0.53780|0.53780	1.695|1.695	0.46609|0.46609	D|D	0.999127|0.999127	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.79108|.	0.992;0.992;0.992|.	T|T	0.61912|0.61912	-0.6965|-0.6965	9|5	0.46703|.	T|.	0.11|.	.|.	13.6219|13.6219	0.62143|0.62143	0.0:0.3877:0.0:0.6123|0.0:0.3877:0.0:0.6123	.|.	173;173;173|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	K|K	173|258	ENSP00000381693:N173K|.	ENSP00000381693:N173K|.	N|T	+|+	3|2	2|0	KIAA0913|KIAA0913	75219192|75219192	0.810000|0.810000	0.29049|0.29049	0.981000|0.981000	0.43875|0.43875	0.994000|0.994000	0.84299|0.84299	-0.040000|-0.040000	0.12104|0.12104	-0.463000|-0.463000	0.06973|0.06973	-0.137000|-0.137000	0.14449|0.14449	AAC|ACG		0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		3	12	1	0	1	1	1	3	12				
COL24A1	255631	broad.mit.edu	37	1	86355288	86355288	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86355288C>A	ENST00000370571.2	-	32	3297	c.2931G>T	c.(2929-2931)caG>caT	p.Q977H	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q977H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	977	Collagen-like 8.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGCAATCCCTGTAAACCCT	0.383																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(2929-2931)caG>caT		collagen, type XXIV, alpha 1							143.0	145.0	144.0					1																	86355288		1853	4092	5945	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86355288C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2931G>T	1.37:g.86355288C>A	ENSP00000359603:p.Gln977His					COL24A1_ENST00000436319.1_Missense_Mutation_p.Q977H	p.Q977H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	32	3297	-			977			Collagen-like 8.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.2931G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914377	0.33815	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93488	-3.23;-3.23	5.41	-1.12	0.09808	.	0.000000	0.33040	N	0.005359	D	0.88470	0.6445	L	0.58302	1.8	0.29967	N	0.818877	P;P	0.51653	0.897;0.947	P;P	0.58970	0.765;0.849	T	0.81566	-0.0874	10	0.48119	T	0.1	.	1.048	0.01574	0.2013:0.2494:0.1122:0.4372	.	977;977	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	977	ENSP00000359603:Q977H;ENSP00000392531:Q977H	ENSP00000359603:Q977H	Q	-	3	2	COL24A1	86127876	0.985000	0.35326	0.993000	0.49108	0.869000	0.49853	-0.017000	0.12590	-0.160000	0.11002	0.585000	0.79938	CAG		0.383	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		12	125	1	0	3.27435e-08	1	3.90559e-08	12	125				
SYNE1	23345	broad.mit.edu	37	6	152718083	152718083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152718083G>A	ENST00000367255.5	-	50	7984	c.7383C>T	c.(7381-7383)agC>agT	p.S2461S	SYNE1_ENST00000265368.4_Silent_p.S2461S|SYNE1_ENST00000341594.5_Silent_p.S2500S|SYNE1_ENST00000448038.1_Silent_p.S2468S|SYNE1_ENST00000423061.1_Silent_p.S2468S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCAAGTTTGCTCTGCCCAT	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(7381-7383)agC>agT		spectrin repeat containing, nuclear envelope 1							159.0	137.0	145.0					6																	152718083		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152718083G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7383C>T	6.37:g.152718083G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.S2500S|SYNE1_ENST00000265368.4_Silent_p.S2461S|SYNE1_ENST00000448038.1_Silent_p.S2468S|SYNE1_ENST00000423061.1_Silent_p.S2468S	p.S2461S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	50	7984	-		Ovarian(120;0.0955)	2461					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.7383C>T	CCDS5236.2																																																																																				0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	69	0	0	0	1	0	32	69				
ZNF618	114991	broad.mit.edu	37	9	116750643	116750643	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116750643C>T	ENST00000374126.5	+	3	219	c.120C>T	c.(118-120)ggC>ggT	p.G40G	ZNF618_ENST00000288466.7_Silent_p.G40G			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGGAGGGCCCAGAGCCAG	0.587																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(118-120)ggC>ggT		zinc finger protein 618							33.0	39.0	37.0					9																	116750643		2111	4222	6333	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116750643C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.120C>T	9.37:g.116750643C>T						ZNF618_ENST00000374126.5_Silent_p.G40G	p.G40G	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			3	219	+			40					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.120C>T																																																																																					0.587	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		13	16	0	0	0	1	0	13	16				
GRM2	2912	broad.mit.edu	37	3	51749164	51749164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749164C>A	ENST00000395052.3	+	4	1609	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	GRM2_ENST00000442933.2_Missense_Mutation_p.L459M|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	459					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTCACCTATCTGCGTGCAGG	0.597																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1375-1377)Ctg>Atg		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						130.0	104.0	113.0					3																	51749164		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749164C>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1375C>A	3.37:g.51749164C>A	ENSP00000378492:p.Leu459Met					GRM2_ENST00000442933.2_Missense_Mutation_p.L459M|GRM2_ENST00000475478.1_3'UTR	p.L459M	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1609	+			459					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1375C>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947742	0.53186	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.88124	-2.34;-2.1	4.95	2.93	0.34026	.	0.068834	0.56097	D	0.000031	T	0.81408	0.4816	N	0.08118	0	0.29631	N	0.845471	P	0.49358	0.923	P	0.53266	0.722	T	0.78809	-0.2058	10	0.87932	D	0	.	11.4555	0.50179	0.0:0.8401:0.0:0.1599	.	459	Q14416	GRM2_HUMAN	M	459	ENSP00000378492:L459M;ENSP00000408906:L459M	ENSP00000378492:L459M	L	+	1	2	GRM2	51724204	0.984000	0.35163	0.047000	0.18901	0.981000	0.71138	2.563000	0.45922	0.481000	0.27557	0.462000	0.41574	CTG		0.597	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			14	21	1	0	2.35188e-11	1	2.93101e-11	14	21				
YWHAZ	7534	broad.mit.edu	37	8	101936203	101936203	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101936203A>C	ENST00000395957.2	-	6	999	c.658T>G	c.(658-660)Tta>Gta	p.L220V	YWHAZ_ENST00000395953.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000395958.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000522819.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000395956.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000521309.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000395951.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000353245.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000457309.1_Missense_Mutation_p.L220V|YWHAZ_ENST00000522542.1_Missense_Mutation_p.L145V|YWHAZ_ENST00000419477.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000395948.2_Missense_Mutation_p.L143V			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	220					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TCTCTCAGTAATTGCATTATT	0.323																																						ENST00000395957.2																			0				large_intestine(1)|lung(2)	3						c.(658-660)Tta>Gta		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	Ginkgo biloba(DB01381)						161.0	158.0	159.0					8																	101936203		2203	4299	6502	SO:0001583	missense	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101936203A>C	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.658T>G	8.37:g.101936203A>C	ENSP00000379287:p.Leu220Val					YWHAZ_ENST00000522819.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000395948.2_Missense_Mutation_p.L143V|YWHAZ_ENST00000395956.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000521309.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000353245.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000457309.1_Missense_Mutation_p.L220V|YWHAZ_ENST00000395951.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000419477.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000522542.1_Missense_Mutation_p.L145V|YWHAZ_ENST00000395958.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000395953.2_Missense_Mutation_p.L220V	p.L220V			P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		6	999	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		220					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	c.658T>G	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183916	0.78677	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.44	5.44	0.79542	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.53938	D	0.000047	D	0.86818	0.6024	H	0.97806	4.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.91795	0.5447	10	0.87932	D	0	.	15.8043	0.78481	1.0:0.0:0.0:0.0	.	220;220	D0PNI1;P63104	.;1433Z_HUMAN	V	220;220;220;220;220;145;100;143;100;220;143;220;220;228	ENSP00000379287:L220V;ENSP00000398599:L220V;ENSP00000379288:L220V;ENSP00000379286:L220V;ENSP00000309503:L220V;ENSP00000430072:L145V;ENSP00000429623:L100V;ENSP00000428775:L100V;ENSP00000379283:L220V;ENSP00000379278:L143V;ENSP00000379281:L220V;ENSP00000395114:L220V;ENSP00000430058:L228V	ENSP00000309503:L220V	L	-	1	2	YWHAZ	102005379	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	6.231000	0.72307	2.197000	0.70478	0.528000	0.53228	TTA		0.323	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2	NM_145690		57	74	0	0	0	1	0	57	74				
PLSCR4	57088	broad.mit.edu	37	3	145914444	145914444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145914444C>T	ENST00000354952.2	-	7	1001	c.761G>A	c.(760-762)gGc>gAc	p.G254D	PLSCR4_ENST00000446574.2_Missense_Mutation_p.G254D|PLSCR4_ENST00000433593.2_Missense_Mutation_p.G149D|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G164D|PLSCR4_ENST00000493382.1_Missense_Mutation_p.G254D	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	254					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGAACCACAGCCATAGGTTGA	0.403																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(760-762)gGc>gAc		phospholipid scramblase 4							148.0	133.0	138.0					3																	145914444		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145914444C>T	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.761G>A	3.37:g.145914444C>T	ENSP00000347038:p.Gly254Asp					PLSCR4_ENST00000493382.1_Missense_Mutation_p.G254D|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G164D|PLSCR4_ENST00000433593.2_Missense_Mutation_p.G149D|PLSCR4_ENST00000446574.2_Missense_Mutation_p.G254D	p.G254D	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			7	1001	-			254					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.761G>A	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890921	0.72524	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.17	4.26	0.50523	.	0.196365	0.36034	N	0.002826	T	0.34279	0.0892	L	0.38838	1.175	0.32538	N	0.534099	D;B	0.71674	0.998;0.31	D;B	0.69824	0.966;0.133	T	0.23476	-1.0187	10	0.41790	T	0.15	.	14.8233	0.70091	0.0:0.8559:0.1441:0.0	.	164;254	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	D	254;164;149;254;254;254	ENSP00000347038:G254D;ENSP00000372561:G164D;ENSP00000415605:G149D;ENSP00000399315:G254D;ENSP00000419040:G254D;ENSP00000417896:G254D	ENSP00000347038:G254D	G	-	2	0	PLSCR4	147397134	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.441000	0.35035	2.683000	0.91414	0.655000	0.94253	GGC		0.403	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		40	59	0	0	0	1	0	40	59				
TRPM2	7226	broad.mit.edu	37	21	45811176	45811176	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45811176A>G	ENST00000397928.1	+	11	1907	c.1462A>G	c.(1462-1464)Atg>Gtg	p.M488V	TRPM2_ENST00000397932.2_Missense_Mutation_p.M488V|TRPM2_ENST00000300482.5_Missense_Mutation_p.M488V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.M488V	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	488					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCACCCCACGATGACAGCTGC	0.527																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1462-1464)Atg>Gtg		transient receptor potential cation channel, subfamily M, member 2							120.0	86.0	97.0					21																	45811176		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811176A>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1462A>G	21.37:g.45811176A>G	ENSP00000381023:p.Met488Val					TRPM2_ENST00000300482.5_Missense_Mutation_p.M488V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.M488V|TRPM2_ENST00000397932.2_Missense_Mutation_p.M488V	p.M488V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			11	1907	+			488					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1462A>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513286	0.27123	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.23	4.08	0.47627	.	0.045737	0.85682	D	0.000000	T	0.55940	0.1952	M	0.91872	3.25	0.44079	D	0.996839	P;B;P	0.43314	0.803;0.376;0.696	B;B;B	0.40702	0.338;0.114;0.254	T	0.62909	-0.6754	10	0.72032	D	0.01	-48.6399	9.2616	0.37616	0.9181:0.0:0.0819:0.0	.	488;274;488	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	V	488	ENSP00000300482:M488V;ENSP00000381023:M488V;ENSP00000300481:M488V;ENSP00000381026:M488V	ENSP00000300481:M488V	M	+	1	0	TRPM2	44635604	1.000000	0.71417	0.452000	0.26994	0.407000	0.30961	5.298000	0.65710	0.856000	0.35383	0.533000	0.62120	ATG		0.527	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	62	0	0	0	1	0	4	62				
DIAPH1	1729	broad.mit.edu	37	5	140905645	140905645	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140905645C>A	ENST00000398557.4	-	26	3674	c.3534G>T	c.(3532-3534)gaG>gaT	p.E1178D	DIAPH1_ENST00000389057.5_Missense_Mutation_p.E1169D|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E1154D|DIAPH1_ENST00000253811.6_Missense_Mutation_p.E1179D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E1121D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E1170D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E1166D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E1175D	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1178					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTGCTTCTCTAGCCGCT	0.522																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3535-3537)gaG>gaT		diaphanous-related formin 1							222.0	237.0	232.0					5																	140905645		2082	4204	6286	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140905645C>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3534G>T	5.37:g.140905645C>A	ENSP00000381565:p.Glu1178Asp					DIAPH1_ENST00000389054.3_Missense_Mutation_p.E1175D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E1170D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E1166D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E1154D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E1121D|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E1178D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E1169D	p.E1179D			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	3677	-			1178					A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.3537G>T	CCDS43374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.27|17.27	3.346150|3.346150	0.61073|0.61073	.|.	.|.	ENSG00000131504|ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047|ENST00000448451	D;D;D;D;D;D;D;D|.	0.82619|.	-1.63;-1.62;-1.52;-1.62;-1.63;-1.62;-1.63;-1.63|.	5.12|5.12	3.34|3.34	0.38264|0.38264	Actin-binding FH2/DRF autoregulatory (1);|.	0.056868|0.056868	0.64402|0.64402	D|D	0.000002|0.000002	T|.	0.75635|.	0.3876|.	M|M	0.85197|0.85197	2.74|2.74	0.47476|0.47476	D|D	0.999435|0.999435	D;D;D|.	0.69078|.	0.997;0.997;0.997|.	D;D;D|.	0.72625|.	0.978;0.978;0.978|.	T|.	0.77627|.	-0.2517|.	10|.	0.59425|0.87932	D|D	0.04|0	.|.	10.8124|10.8124	0.46555|0.46555	0.0:0.8416:0.0:0.1584|0.0:0.8416:0.0:0.1584	.|.	1168;1169;1178|.	A0RZB8;E9PEZ2;O60610|.	.;.;DIAP1_HUMAN|.	D|X	1175;1121;1154;1169;1170;1178;1179;1166|24	ENSP00000373706:E1175D;ENSP00000429282:E1121D;ENSP00000381570:E1154D;ENSP00000373709:E1169D;ENSP00000381572:E1170D;ENSP00000381565:E1178D;ENSP00000253811:E1179D;ENSP00000428268:E1166D|.	ENSP00000253811:E1179D|ENSP00000408159:E24X	E|E	-|-	3|1	2|0	DIAPH1|DIAPH1	140885829|140885829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.285000|2.285000	0.43487|0.43487	0.661000|0.661000	0.30985|0.30985	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.522	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		6	118	1	0	0.27861	1	0.279982	6	118				
ABCA6	23460	broad.mit.edu	37	17	67130869	67130869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67130869C>A	ENST00000284425.2	-	5	649	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	159					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCACCATATCCATCCCAGCAA	0.378																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(475-477)Gga>Tga		ATP-binding cassette, sub-family A (ABC1), member 6							113.0	103.0	106.0					17																	67130869		2203	4300	6503	SO:0001587	stop_gained	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67130869C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.475G>T	17.37:g.67130869C>A	ENSP00000284425:p.Gly159*						p.G159*	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			5	649	-	Breast(10;5.65e-12)		159					Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	c.475G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989568	0.74589	.	.	ENSG00000154262	ENST00000284425	.	.	.	5.24	-9.2	0.00682	.	2.875030	0.01350	N	0.011881	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	1.2489	0.01978	0.3163:0.1539:0.1047:0.4251	.	.	.	.	X	159	.	ENSP00000284425:G159X	G	-	1	0	ABCA6	64642464	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-2.952000	0.00677	-1.200000	0.02662	0.591000	0.81541	GGA		0.378	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		6	55	1	0	0.217242	1	0.218821	6	55				
RCOR2	283248	broad.mit.edu	37	11	63676648	63676648	+	IGR	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63676648C>T	ENST00000301459.4	-	0	2604				MARK2_ENST00000502399.3_Missense_Mutation_p.S759L|MARK2_ENST00000508192.1_Missense_Mutation_p.S705L|MARK2_ENST00000408948.3_Missense_Mutation_p.S672L|MARK2_ENST00000413835.2_Missense_Mutation_p.S715L|MARK2_ENST00000350490.7_Missense_Mutation_p.S690L|MARK2_ENST00000315032.8_Missense_Mutation_p.S760L|MARK2_ENST00000361128.5_Missense_Mutation_p.S700L|MARK2_ENST00000509502.2_Missense_Mutation_p.S726L|MARK2_ENST00000513765.2_Missense_Mutation_p.S736L|MARK2_ENST00000377809.4_Missense_Mutation_p.S754L|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000425897.2_Missense_Mutation_p.S680L|MARK2_ENST00000402010.2_Missense_Mutation_p.S769L|MARK2_ENST00000377810.3_Missense_Mutation_p.S672L	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S726L(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AAGCGGATATCGGGCACCTCC	0.612																																						ENST00000402010.2																			1	Substitution - Missense(1)	p.S726L(1)	lung(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2305-2307)tCg>tTg		MAP/microtubule affinity-regulating kinase 2							77.0	71.0	73.0					11																	63676648		2201	4297	6498	SO:0001628	intergenic_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63676648C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676648C>T						MARK2_ENST00000350490.7_Missense_Mutation_p.S690L|MARK2_ENST00000413835.2_Missense_Mutation_p.S715L|MARK2_ENST00000513765.2_Missense_Mutation_p.S736L|MARK2_ENST00000425897.2_Missense_Mutation_p.S680L|MARK2_ENST00000377809.4_Missense_Mutation_p.S754L|MARK2_ENST00000361128.5_Missense_Mutation_p.S700L|MARK2_ENST00000315032.8_Missense_Mutation_p.S760L|MARK2_ENST00000502399.3_Missense_Mutation_p.S759L|MARK2_ENST00000377810.3_Missense_Mutation_p.S672L|MARK2_ENST00000508192.1_Missense_Mutation_p.S705L|MARK2_ENST00000408948.3_Missense_Mutation_p.S672L|MARK2_ENST00000509502.2_Missense_Mutation_p.S726L	p.S769L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			19	2885	+			769			KA1.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.2306C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799111	0.90538	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.41	4.41	0.53225	Kinase-associated KA1 (4);	0.155672	0.44097	D	0.000490	T	0.66257	0.2771	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;0.998;0.998;1.0;0.999	D;D;D;D;D;D	0.79784	0.957;0.942;0.927;0.986;0.993;0.942	T	0.71421	-0.4598	10	0.62326	D	0.03	.	16.3282	0.82996	0.0:1.0:0.0:0.0	.	680;726;690;700;769;705	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	L	769;760;754;715;672;705;700;690;761;726;736;672;680	ENSP00000385751:S769L;ENSP00000326632:S760L;ENSP00000367040:S754L;ENSP00000389184:S715L;ENSP00000367041:S672L;ENSP00000425765:S705L;ENSP00000355091:S700L;ENSP00000294247:S690L;ENSP00000423974:S726L;ENSP00000421075:S736L;ENSP00000386128:S672L;ENSP00000415494:S680L	ENSP00000326632:S760L	S	+	2	0	MARK2	63433224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.644000	0.83416	2.455000	0.83008	0.542000	0.68232	TCG		0.612	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		6	74	0	0	0	1	0	6	74				
MARK1	4139	broad.mit.edu	37	1	220804430	220804430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220804430G>A	ENST00000366917.4	+	10	1229	c.963G>A	c.(961-963)aaG>aaA	p.K321K	MARK1_ENST00000402574.1_Silent_p.K186K|MARK1_ENST00000366918.4_Silent_p.K299K					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGAACTAAAGCCATATACTG	0.378																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(556-558)aaG>aaA		MAP/microtubule affinity-regulating kinase 1							125.0	120.0	122.0					1																	220804430		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220804430G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.963G>A	1.37:g.220804430G>A						MARK1_ENST00000366917.4_Silent_p.K321K|MARK1_ENST00000366918.4_Silent_p.K299K	p.K186K	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	10	1560	+			321			Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.558G>A	CCDS31029.2																																																																																				0.378	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			25	59	0	0	0	1	0	25	59				
PHLPP1	23239	broad.mit.edu	37	18	60527781	60527781	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60527781C>A	ENST00000262719.5	+	4	2247	c.2013C>A	c.(2011-2013)ttC>ttA	p.F671L	PHLPP1_ENST00000400316.4_Missense_Mutation_p.F159L			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	671					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AACAAAACTTCCTAAGGCAGA	0.502																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(475-477)ttC>ttA		PH domain and leucine rich repeat protein phosphatase 1							47.0	44.0	45.0					18																	60527781		1886	4118	6004	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60527781C>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2013C>A	18.37:g.60527781C>A	ENSP00000262719:p.Phe671Leu					PHLPP1_ENST00000262719.5_Missense_Mutation_p.F671L	p.F159L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			4	2258	+			671					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.477C>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111557	0.56398	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.23754	1.89;1.89	5.65	1.98	0.26296	.	.	.	.	.	T	0.10465	0.0256	N	0.10945	0.07	0.51482	D	0.999929	B	0.26902	0.163	B	0.19148	0.024	T	0.18304	-1.0341	9	0.08599	T	0.76	-21.3401	8.9466	0.35762	0.0:0.6594:0.0:0.3406	.	671	O60346	PHLP1_HUMAN	L	159;671	ENSP00000383170:F159L;ENSP00000262719:F671L	ENSP00000262719:F671L	F	+	3	2	PHLPP1	58678761	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.245000	0.32790	0.193000	0.20303	0.655000	0.94253	TTC		0.502	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		4	21	1	0	0.00024832	1	0.0002712	4	21				
UTRN	7402	broad.mit.edu	37	6	145142120	145142120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:145142120G>A	ENST00000367545.3	+	65	9460	c.9460G>A	c.(9460-9462)Gtc>Atc	p.V3154I	UTRN_ENST00000367526.4_Missense_Mutation_p.V709I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3154	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTACCTGCCTGTCCAGACAGT	0.373																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9460-9462)Gtc>Atc		utrophin							110.0	101.0	104.0					6																	145142120		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145142120G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9460G>A	6.37:g.145142120G>A	ENSP00000356515:p.Val3154Ile					UTRN_ENST00000367526.4_Missense_Mutation_p.V709I	p.V3154I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	65	9460	+		Ovarian(120;0.218)	3154			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9460G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891179	0.72524	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.83	5.83	0.93111	.	0.000000	0.46758	D	0.000275	D	0.87752	0.6256	M	0.68593	2.085	0.53688	D	0.999976	P	0.37015	0.578	P	0.44477	0.451	D	0.87847	0.2655	10	0.59425	D	0.04	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	3154	P46939	UTRO_HUMAN	I	3154;709;113;113;113;79	ENSP00000356515:V3154I;ENSP00000356496:V709I;ENSP00000398923:V113I;ENSP00000404205:V113I;ENSP00000387927:V79I	ENSP00000356496:V709I	V	+	1	0	UTRN	145183813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.415000	0.97375	2.753000	0.94483	0.585000	0.79938	GTC		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	62	0	0	0	1	0	11	62				
DLG4	1742	broad.mit.edu	37	17	7100196	7100196	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7100196C>T	ENST00000399506.2	-	9	1154	c.963G>A	c.(961-963)acG>acA	p.T321T	DLG4_ENST00000302955.6_Silent_p.T318T|DLG4_ENST00000399510.2_Silent_p.T364T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	321	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	AGCCCAGGCCCGTGGAGCCCC	0.642																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1090-1092)acG>acA		discs, large homolog 4 (Drosophila)							32.0	41.0	38.0					17																	7100196		2120	4254	6374	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7100196C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.963G>A	17.37:g.7100196C>T						DLG4_ENST00000399506.2_Silent_p.T321T|DLG4_ENST00000302955.6_Silent_p.T318T	p.T364T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			11	1944	-			321			PDZ 3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.1092G>A																																																																																					0.642	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		7	14	0	0	0	1	0	7	14				
TCEB3B	51224	broad.mit.edu	37	18	44560997	44560997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44560997G>A	ENST00000332567.4	-	1	991	c.639C>T	c.(637-639)ggC>ggT	p.G213G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	213					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGGGTTGGCCCTGGCAGC	0.672																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(637-639)ggC>ggT		transcription elongation factor B polypeptide 3B (elongin A2)							28.0	30.0	30.0					18																	44560997		2203	4299	6502	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560997G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.639C>T	18.37:g.44560997G>A						KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.G213G	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	991	-			213					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.639C>T	CCDS11932.1																																																																																				0.672	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		12	26	0	0	0	1	0	12	26				
CATSPER1	117144	broad.mit.edu	37	11	65788617	65788617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65788617G>A	ENST00000312106.5	-	5	1868	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	577					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAGGACTGGCCCAGGGTCC	0.647																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1729-1731)ggC>ggT		cation channel, sperm associated 1							73.0	51.0	59.0					11																	65788617		2200	4296	6496	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65788617G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1731C>T	11.37:g.65788617G>A							p.G577G	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			5	1868	-			577					Q96P76	Silent	SNP	ENST00000312106.5	37	c.1731C>T	CCDS8127.1																																																																																				0.647	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		6	11	0	0	0	1	0	6	11				
LRRC20	55222	broad.mit.edu	37	10	72100321	72100321	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72100321T>A	ENST00000355790.4	-	3	697	c.220A>T	c.(220-222)Agt>Tgt	p.S74C	LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.S74C|LRRC20_ENST00000395010.1_Missense_Mutation_p.S74C|LRRC20_ENST00000395011.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	74										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						CGGAGCTGACTGAATGTGGTC	0.582																																						ENST00000355790.4																			0				endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(220-222)Agt>Tgt		leucine rich repeat containing 20							161.0	139.0	146.0					10																	72100321		2203	4300	6503	SO:0001583	missense	55222							g.chr10:72100321T>A	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.220A>T	10.37:g.72100321T>A	ENSP00000348043:p.Ser74Cys					LRRC20_ENST00000395010.1_Missense_Mutation_p.S74C|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.S74C|LRRC20_ENST00000395011.1_Intron	p.S74C	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN			3	697	-			74					Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	c.220A>T	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.522709	0.44866	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395010;ENST00000357631;ENST00000446961	T;T;T;T;T	0.55413	0.52;0.52;0.54;0.54;0.52	5.74	2.0	0.26442	.	0.229069	0.50627	N	0.000104	T	0.39809	0.1092	L	0.47716	1.5	0.35333	D	0.785782	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.37888	-0.9686	10	0.54805	T	0.06	-0.3056	4.7875	0.13232	0.3914:0.091:0.0:0.5176	.	74;74	Q8TCA0-3;Q8TCA0	.;LRC20_HUMAN	C	74	ENSP00000362321:S74C;ENSP00000348043:S74C;ENSP00000378457:S74C;ENSP00000350255:S74C;ENSP00000413745:S74C	ENSP00000348043:S74C	S	-	1	0	LRRC20	71770327	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.313000	0.51935	0.414000	0.25790	0.533000	0.62120	AGT		0.582	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1	NM_018239		17	27	0	0	0	1	0	17	27				
ST3GAL3	6487	broad.mit.edu	37	1	44290430	44290430	+	Intron	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44290430T>G	ENST00000361392.4	+	4	386				ST3GAL3_ENST00000372372.2_Silent_p.V63V|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.V63V|ST3GAL3_ENST00000372375.2_Silent_p.V79V|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.V94V|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000262915.3_Silent_p.V94V|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.V79V|ST3GAL3_ENST00000372366.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAcggtggtttttggccttg	0.458																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(280-282)gtT>gtG		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							84.0	87.0	86.0					1																	44290430		2203	4300	6503	SO:0001627	intron_variant	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44290430T>G	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.209+9825T>G	1.37:g.44290430T>G						ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.V63V|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361392.4_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000361746.4_Silent_p.V94V|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372372.2_Silent_p.V63V|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.V79V|ST3GAL3_ENST00000372368.2_Silent_p.V79V	p.V94V	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			5	459	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	76	L -> S (in Ref. 3; AAO38810).				A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	c.282T>G	CCDS492.1																																																																																				0.458	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		25	48	0	0	0	1	0	25	48				
AHCTF1	25909	broad.mit.edu	37	1	247053278	247053278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247053278G>A	ENST00000391829.2	-	17	2257	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R721C|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R747C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	712	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTGATAAACGCTCAAACTTC	0.338																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(2239-2241)Cgt>Tgt		AT hook containing transcription factor 1							111.0	118.0	116.0					1																	247053278		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247053278G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2134C>T	1.37:g.247053278G>A	ENSP00000375705:p.Arg712Cys					AHCTF1_ENST00000391829.2_Missense_Mutation_p.R712C|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R721C	p.R747C			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		17	2375	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	712			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.2239C>T		.	.	.	.	.	.	.	.	.	.	G	13.79	2.341682	0.41498	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.36699	1.24;1.24;1.24	5.61	4.68	0.58851	.	0.060126	0.64402	D	0.000005	T	0.59211	0.2177	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.66196	0.942;0.941	T	0.65224	-0.6220	10	0.72032	D	0.01	-6.0511	15.726	0.77761	0.0:0.0:0.8622:0.1378	.	747;712	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	C	747;721;712	ENSP00000355464:R747C;ENSP00000355465:R721C;ENSP00000375705:R712C	ENSP00000355465:R721C	R	-	1	0	AHCTF1	245119901	0.990000	0.36364	0.402000	0.26371	0.005000	0.04900	7.546000	0.82137	1.336000	0.45506	0.579000	0.79373	CGT		0.338	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		67	86	0	0	0	1	0	67	86				
LAMA2	3908	broad.mit.edu	37	6	129573422	129573422	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129573422G>A	ENST00000421865.2	+	14	2127	c.2078G>A	c.(2077-2079)gGg>gAg	p.G693E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	693	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAGCTTTGGGATGGATGCC	0.448																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2077-2079)gGg>gAg		laminin, alpha 2							69.0	67.0	68.0					6																	129573422		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129573422G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2078G>A	6.37:g.129573422G>A	ENSP00000400365:p.Gly693Glu						p.G693E	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	14	2127	+			693			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2078G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702818	0.30232	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34667	1.35	5.53	3.73	0.42828	Laminin B type IV (2);Laminin B, subgroup (1);	0.126999	0.53938	D	0.000054	T	0.14442	0.0349	L	0.33792	1.035	0.41195	D	0.986335	B;B	0.17852	0.024;0.024	B;B	0.20384	0.029;0.029	T	0.04347	-1.0958	10	0.56958	D	0.05	.	11.0658	0.47974	0.0674:0.0:0.8036:0.1289	.	693;693	A6NF00;P24043	.;LAMA2_HUMAN	E	693	ENSP00000400365:G693E	ENSP00000346769:G693E	G	+	2	0	LAMA2	129615115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.039000	0.57325	0.790000	0.33803	0.585000	0.79938	GGG		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	56	0	0	0	1	0	3	56				
KLHL4	56062	broad.mit.edu	37	X	86890607	86890607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:86890607C>T	ENST00000373119.4	+	9	1902	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	KLHL4_ENST00000373114.4_Missense_Mutation_p.S586L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	586						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCCTCAAATCAATGGAATAC	0.398																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1756-1758)tCa>tTa		kelch-like family member 4							126.0	105.0	112.0					X																	86890607		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890607C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1757C>T	X.37:g.86890607C>T	ENSP00000362211:p.Ser586Leu					KLHL4_ENST00000373114.4_Missense_Mutation_p.S586L	p.S586L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			9	1902	+			586					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1757C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	c	19.55	3.849339	0.71603	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.81330	-1.48;-1.48	4.44	3.58	0.41010	Galactose oxidase, beta-propeller (1);	0.223510	0.39407	N	0.001376	D	0.89750	0.6805	M	0.88906	2.99	0.50467	D	0.999872	D;D	0.76494	0.991;0.999	D;D	0.74023	0.938;0.982	D	0.90395	0.4398	10	0.72032	D	0.01	.	11.1372	0.48381	0.0:0.9074:0.0:0.0926	.	586;586	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	L	586	ENSP00000362211:S586L;ENSP00000362206:S586L	ENSP00000362206:S586L	S	+	2	0	KLHL4	86777263	1.000000	0.71417	0.307000	0.25127	0.924000	0.55760	7.111000	0.77077	0.999000	0.39023	-0.272000	0.10252	TCA		0.398	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			17	23	0	0	0	1	0	17	23				
C20orf96	140680	broad.mit.edu	37	20	270254	270254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:270254G>A	ENST00000360321.2	-	3	271	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	C20orf96_ENST00000382369.5_Intron|C20orf96_ENST00000400269.3_Intron	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	45										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGTTGGCTTGTTGGACTGGA	0.502																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(133-135)Caa>Taa		chromosome 20 open reading frame 96							161.0	138.0	146.0					20																	270254		2203	4300	6503	SO:0001587	stop_gained	140680							g.chr20:270254G>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.133C>T	20.37:g.270254G>A	ENSP00000353470:p.Gln45*					C20orf96_ENST00000382369.5_Intron|C20orf96_ENST00000400269.3_Intron	p.Q45*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		3	271	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	45					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Nonsense_Mutation	SNP	ENST00000360321.2	37	c.133C>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766783	0.69878	.	.	ENSG00000196476	ENST00000360321	.	.	.	3.95	3.95	0.45737	.	0.330325	0.22236	N	0.062742	.	.	.	.	.	.	0.42626	D	0.993364	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-17.1676	11.7948	0.52093	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000353470:Q45X	Q	-	1	0	C20orf96	218254	0.051000	0.20477	0.042000	0.18584	0.210000	0.24377	2.267000	0.43329	2.498000	0.84270	0.455000	0.32223	CAA		0.502	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		44	57	0	0	0	1	0	44	57				
FERMT3	83706	broad.mit.edu	37	11	63990794	63990794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990794G>A	ENST00000279227.5	+	15	1929	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Missense_Mutation_p.E608K|NUDT22_ENST00000441250.2_5'Flank	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	612					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGTGGCCATCGAGTTTGATGA	0.592																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1834-1836)Gag>Aag		fermitin family member 3							122.0	117.0	119.0					11																	63990794		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990794G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1834G>A	11.37:g.63990794G>A	ENSP00000279227:p.Glu612Lys					FERMT3_ENST00000345728.5_Missense_Mutation_p.E608K	p.E612K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			15	1929	+			612					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1834G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290152	0.95546	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.34275	1.37;1.37;1.37	5.17	5.17	0.71159	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	T	0.66803	-0.5831	10	0.72032	D	0.01	-38.9166	17.8125	0.88620	0.0:0.0:1.0:0.0	.	608;612	Q86UX7-2;Q86UX7	.;URP2_HUMAN	K	608;612;129	ENSP00000339950:E608K;ENSP00000279227:E612K;ENSP00000440209:E129K	ENSP00000279227:E612K	E	+	1	0	FERMT3	63747370	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.471000	0.97696	2.585000	0.87301	0.561000	0.74099	GAG		0.592	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		51	116	0	0	0	1	0	51	116				
CREBRF	153222	broad.mit.edu	37	5	172535773	172535773	+	Nonsense_Mutation	SNP	C	C	T	rs142630557		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172535773C>T	ENST00000296953.2	+	5	1688	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CREBRF_ENST00000540014.1_Nonsense_Mutation_p.R457*	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	457					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAGTGGAACCGAGATACTTT	0.403																																						ENST00000540014.1																			0											c.(1369-1371)Cga>Tga		CREB3 regulatory factor							137.0	126.0	130.0					5																	172535773		2203	4300	6503	SO:0001587	stop_gained	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172535773C>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1369C>T	5.37:g.172535773C>T	ENSP00000296953:p.Arg457*					CREBRF_ENST00000296953.2_Nonsense_Mutation_p.R457*	p.R457*			Q8IUR6	CE041_HUMAN			5	1688	+			457					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Nonsense_Mutation	SNP	ENST00000296953.2	37	c.1369C>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	40	8.067148	0.98638	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	.	.	.	5.49	3.53	0.40419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	15.1505	0.72692	0.3826:0.6174:0.0:0.0	.	.	.	.	X	457	.	ENSP00000296953:R457X	R	+	1	2	C5orf41	172468379	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.728000	0.38105	1.317000	0.45149	0.585000	0.79938	CGA		0.403	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		36	68	0	0	0	1	0	36	68				
STRN	6801	broad.mit.edu	37	2	37152312	37152312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37152312C>T	ENST00000263918.4	-	2	282	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	STRN_ENST00000379213.2_Missense_Mutation_p.E80K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	92					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCAAATTTTCTTGGCCCTTC	0.373																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(274-276)Gaa>Aaa		striatin, calmodulin binding protein							67.0	71.0	69.0					2																	37152312		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37152312C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.274G>A	2.37:g.37152312C>T	ENSP00000263918:p.Glu92Lys					STRN_ENST00000379213.2_Missense_Mutation_p.E80K	p.E92K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			2	282	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	92					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.274G>A	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457575	0.96240	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.75260	-0.9;-0.92	5.16	5.16	0.70880	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	M	0.64997	1.995	0.80722	D	1	D;D	0.65815	0.982;0.995	D;D	0.77004	0.935;0.989	D	0.86368	0.1721	10	0.87932	D	0	-21.2127	17.4167	0.87503	0.0:1.0:0.0:0.0	.	80;92	O43815-2;O43815	.;STRN_HUMAN	K	92;67;80	ENSP00000263918:E92K;ENSP00000368513:E80K	ENSP00000263918:E92K	E	-	1	0	STRN	37005816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.468000	0.80943	2.376000	0.81061	0.650000	0.86243	GAA		0.373	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			4	78	0	0	0	1	0	4	78				
WDR17	116966	broad.mit.edu	37	4	177094487	177094487	+	Missense_Mutation	SNP	G	G	A	rs201308930		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177094487G>A	ENST00000280190.4	+	27	3587	c.3431G>A	c.(3430-3432)cGt>cAt	p.R1144H	WDR17_ENST00000393643.2_Missense_Mutation_p.R1120H|WDR17_ENST00000508596.1_Missense_Mutation_p.R1105H|WDR17_ENST00000507824.2_Missense_Mutation_p.R1119H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTATATTCGTACTGAAAAA	0.333																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3358-3360)cGt>cAt		WD repeat domain 17							89.0	84.0	86.0					4																	177094487		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177094487G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3431G>A	4.37:g.177094487G>A	ENSP00000280190:p.Arg1144His					WDR17_ENST00000508596.1_Missense_Mutation_p.R1105H|WDR17_ENST00000280190.4_Missense_Mutation_p.R1144H|WDR17_ENST00000507824.2_Missense_Mutation_p.R1119H	p.R1120H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	26	3611	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1144					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3359G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516823	0.85495	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60424	0.21;0.25;0.19	5.58	4.74	0.60224	.	0.217098	0.38837	N	0.001557	T	0.70465	0.3227	M	0.71581	2.175	0.58432	D	0.999994	D;D;D	0.67145	0.996;0.993;0.993	P;P;P	0.58210	0.835;0.668;0.668	T	0.74878	-0.3514	10	0.72032	D	0.01	-6.1945	14.4419	0.67323	0.0713:0.0:0.9287:0.0	.	1120;1105;1144	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	H	1105;1120;1144;1120	ENSP00000422763:R1105H;ENSP00000377258:R1120H;ENSP00000280190:R1144H	ENSP00000280190:R1144H	R	+	2	0	WDR17	177331481	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.862000	0.69560	1.359000	0.45940	0.585000	0.79938	CGT		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			12	30	0	0	0	1	0	12	30				
SPATA20	64847	broad.mit.edu	37	17	48626519	48626519	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48626519G>A	ENST00000356488.4	+	5	667	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SPATA20_ENST00000006658.6_Missense_Mutation_p.R211H|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.R151H	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTCGGCTTCCGCACAGTGTTG	0.622																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(631-633)cGc>cAc		spermatogenesis associated 20																																				SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48626519G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.584G>A	17.37:g.48626519G>A	ENSP00000348878:p.Arg195His					SPATA20_ENST00000393244.3_Missense_Mutation_p.R151H|SPATA20_ENST00000356488.4_Missense_Mutation_p.R195H|SPATA20_ENST00000511937.1_3'UTR	p.R211H	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		6	752	+	Breast(11;1.23e-18)		195					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.632G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657954	0.47467	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.44083	0.93;0.93;0.93	5.06	1.99	0.26369	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.286130	0.34828	N	0.003650	T	0.36303	0.0962	L	0.56396	1.775	0.34579	D	0.714265	B;B;B	0.22080	0.064;0.005;0.018	B;B;B	0.18561	0.022;0.013;0.013	T	0.38950	-0.9637	10	0.36615	T	0.2	-29.7253	10.2815	0.43543	0.2166:0.0:0.7834:0.0	.	221;195;211	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	H	211;195;151	ENSP00000006658:R211H;ENSP00000348878:R195H;ENSP00000376935:R151H	ENSP00000006658:R211H	R	+	2	0	SPATA20	45981518	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.415000	0.52700	0.188000	0.20168	-0.291000	0.09656	CGC		0.622	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		28	33	0	0	0	1	0	28	33				
CBX8	57332	broad.mit.edu	37	17	77768488	77768488	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77768488G>A	ENST00000269385.4	-	5	1233	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	372					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAATGGTGACGGTCAAAAAGT	0.542																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(1114-1116)acC>acT		chromobox homolog 8							128.0	141.0	136.0					17																	77768488		2203	4300	6503	SO:0001819	synonymous_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768488G>A	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1116C>T	17.37:g.77768488G>A							p.T372T	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1233	-			372					Q96H39|Q9NR07	Silent	SNP	ENST00000269385.4	37	c.1116C>T	CCDS11765.1																																																																																				0.542	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		4	157	0	0	0	1	0	4	157				
CRIM1	51232	broad.mit.edu	37	2	36749446	36749446	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36749446C>A	ENST00000280527.2	+	13	2785	c.2418C>A	c.(2416-2418)ccC>ccA	p.P806P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	806	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGTGTTGTCCCTACTGCATAG	0.413																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2416-2418)ccC>ccA		cysteine rich transmembrane BMP regulator 1 (chordin-like)							132.0	123.0	126.0					2																	36749446		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36749446C>A	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2418C>A	2.37:g.36749446C>A							p.P806P	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			13	2785	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	806			VWFC 5.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.2418C>A	CCDS1783.1																																																																																				0.413	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		8	71	1	0	0.000157383	1	0.00017284	8	71				
UBE2U	148581	broad.mit.edu	37	1	64671402	64671402	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64671402G>T	ENST00000371076.3	+	2	391	c.147G>T	c.(145-147)caG>caT	p.Q49H		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	49					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						CAGTTTGGCAGGGTTTGTATT	0.313																																						ENST00000371077.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.e2+1		ubiquitin-conjugating enzyme E2U (putative)							100.0	103.0	102.0					1																	64671402		2203	4298	6501	SO:0001630	splice_region_variant	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64671402G>T	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.148+1G>T	1.37:g.64671402G>T						UBE2U_ENST00000371076.3_Splice_Site_p.Q49_splice	p.Q49_splice			Q5VVX9	UBE2U_HUMAN			2	571	+			49					Q8N1D4	Splice_Site	SNP	ENST00000371076.3	37	c.148_splice	CCDS627.1	.	.	.	.	.	.	.	.	.	.	G	1.444	-0.566958	0.03910	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.42513	0.97;0.97	5.35	-10.7	0.00240	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	1.155110	0.06519	N	0.739369	T	0.06690	0.0171	N	0.25957	0.775	0.23773	N	0.996882	B	0.09022	0.002	B	0.04013	0.001	T	0.07139	-1.0788	10	0.27082	T	0.32	.	4.5943	0.12322	0.6138:0.0756:0.1746:0.136	.	49	Q5VVX9	UBE2U_HUMAN	H	49	ENSP00000360117:Q49H;ENSP00000360116:Q49H	ENSP00000360116:Q49H	Q	+	3	2	UBE2U	64443990	0.887000	0.30362	0.092000	0.20876	0.192000	0.23643	-0.517000	0.06275	-2.785000	0.00359	-0.302000	0.09304	CAG		0.313	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489	Missense_Mutation	5	51	1	0	0.00116845	1	0.00124821	5	51				
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189068102C>T	ENST00000332517.3	+	6	1123	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	328	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A328V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.0				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			1	Substitution - Missense(1)	p.A328V(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(982-984)gCg>gTg		tripartite motif family-like 1		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	98.0	92.0	94.0		983	4.9	1.0	4	dbSNP_134	94	0,8600		0,0,4300	no	missense	TRIML1	NM_178556.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	328/469	189068102	2,13004	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068102C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.983C>T	4.37:g.189068102C>T	ENSP00000327738:p.Ala328Val					TRIML1_ENST00000507581.1_3'UTR	p.A328V	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1123	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	328			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.983C>T	CCDS3851.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.92	2.081718	0.36758	4.54E-4	0.0	ENSG00000184108	ENST00000332517	T	0.12147	2.71	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.53938	D	0.000060	T	0.11707	0.0285	L	0.42008	1.315	0.32138	N	0.585837	P	0.48834	0.916	B	0.42422	0.387	T	0.04041	-1.0982	10	0.17369	T	0.5	-22.406	9.4112	0.38494	0.0:0.9057:0.0:0.0943	.	328	Q8N9V2	TRIML_HUMAN	V	328	ENSP00000327738:A328V	ENSP00000327738:A328V	A	+	2	0	TRIML1	189305096	0.000000	0.05858	0.970000	0.41538	0.418000	0.31294	0.050000	0.14120	2.749000	0.94314	0.550000	0.68814	GCG		0.537	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		32	45	0	0	0	1	0	32	45				
SLC24A3	57419	broad.mit.edu	37	20	19665995	19665995	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19665995C>T	ENST00000328041.6	+	12	1511	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	438					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACACACCATTCGACACCCCCT	0.468																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1312-1314)ttC>ttT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							148.0	130.0	136.0					20																	19665995		2203	4300	6503	SO:0001819	synonymous_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19665995C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1314C>T	20.37:g.19665995C>T							p.F438F	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			12	1511	+			438					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	c.1314C>T	CCDS13140.1																																																																																				0.468	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		30	49	0	0	0	1	0	30	49				
HPS1	3257	broad.mit.edu	37	10	100183511	100183511	+	Splice_Site	SNP	G	G	A	rs147748659	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100183511G>A	ENST00000325103.6	-	15	1764	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Splice_Site_p.R511W	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	511					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGCACTTACCGCATGAGCCTC	0.672									Hermansky-Pudlak syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.001					ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.e15+1		Hermansky-Pudlak syndrome 1							52.0	57.0	55.0					10																	100183511		2203	4300	6503	SO:0001630	splice_region_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100183511G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1532+1C>T	10.37:g.100183511G>A						HPS1_ENST00000361490.4_Splice_Site_p.R511_splice|HPS1_ENST00000467246.1_5'UTR	p.R511_splice	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	15	1764	-		Colorectal(252;0.234)	511					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Splice_Site	SNP	ENST00000325103.6	37	c.1532_splice	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800958	0.50315	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632	T;T;T	0.31769	1.48;1.48;1.48	5.61	2.53	0.30540	.	0.520741	0.22088	N	0.064782	T	0.42743	0.1216	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	P;P;P;P	0.59424	0.799;0.857;0.857;0.857	T	0.39461	-0.9613	10	0.72032	D	0.01	.	13.3545	0.60621	0.0:0.0:0.4753:0.5247	.	149;478;511;511	Q658M9;Q92902-2;Q8WXE5;D3DR62	.;.;.;.	W	511;511;478;306	ENSP00000326649:R511W;ENSP00000355310:R511W;ENSP00000352652:R306W	ENSP00000326649:R511W	R	-	1	2	HPS1	100173501	0.993000	0.37304	0.935000	0.37517	0.026000	0.11368	2.380000	0.44327	0.690000	0.31570	-0.234000	0.12200	CGG		0.672	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	Missense_Mutation	21	37	0	0	0	1	0	21	37				
ADM5	199800	broad.mit.edu	37	19	50193108	50193108	+	Missense_Mutation	SNP	T	T	A	rs375061308		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50193108T>A	ENST00000420022.3	+	1	1188	c.14T>A	c.(13-15)aTc>aAc	p.I5N	CPT1C_ENST00000323446.5_5'Flank|CPT1C_ENST00000405931.2_5'Flank|CPT1C_ENST00000354199.5_5'Flank|CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000392518.4_5'Flank|CPT1C_ENST00000598293.1_5'Flank	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)	5						extracellular region (GO:0005576)											ACTATCCACATCCTCATCCTG	0.682											OREG0025628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000420022.3																			0											c.(13-15)aTc>aAc		adrenomedullin 5 (putative)		T	ASN/ILE	0,4226		0,0,2113	74.0	80.0	78.0		14	-0.6	0.0	19		78	1,8435		0,1,4217	no	missense	C19orf76	NM_001101340.1	149	0,1,6330	AA,AT,TT		0.0119,0.0,0.0079	probably-damaging	5/154	50193108	1,12661	2113	4218	6331	SO:0001583	missense	199800							g.chr19:50193108T>A	BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 76"", ""adrenomedullin 5 homolog (pig)"""	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6		ENST00000420022.3:c.14T>A	19.37:g.50193108T>A	ENSP00000393631:p.Ile5Asn		OREG0025628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	967	CTB-33G10.6_ENST00000596472.1_RNA	p.I5N	NM_001101340.1	NP_001094810.1					1	1188	+									Missense_Mutation	SNP	ENST00000420022.3	37	c.14T>A	CCDS46146.1	.	.	.	.	.	.	.	.	.	.	T	8.954	0.968913	0.18659	0.0	1.19E-4	ENSG00000224420	ENST00000420022	.	.	.	1.86	-0.651	0.11454	.	.	.	.	.	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	D	0.56035	0.974	P	0.47206	0.541	T	0.13442	-1.0509	8	0.87932	D	0	.	4.5609	0.12160	0.0:0.4999:0.0:0.5001	.	5	C9JUS6	ADM5_HUMAN	N	5	.	ENSP00000393631:I5N	I	+	2	0	C19orf76	54884920	0.000000	0.05858	0.006000	0.13384	0.028000	0.11728	0.193000	0.17116	-0.184000	0.10567	0.374000	0.22700	ATC		0.682	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340		33	44	0	0	0	1	0	33	44				
PPIG	9360	broad.mit.edu	37	2	170489682	170489682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170489682C>A	ENST00000260970.3	+	12	1162	c.942C>A	c.(940-942)aaC>aaA	p.N314K	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.N299K|PPIG_ENST00000448752.2_Missense_Mutation_p.N314K|PPIG_ENST00000462903.1_Missense_Mutation_p.N314K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	314					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATCCACCTAACTCCCAGCCTG	0.393																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(940-942)aaC>aaA		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						78.0	76.0	77.0					2																	170489682		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170489682C>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.942C>A	2.37:g.170489682C>A	ENSP00000260970:p.Asn314Lys					PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.N299K|PPIG_ENST00000462903.1_Missense_Mutation_p.N314K|PPIG_ENST00000448752.2_Missense_Mutation_p.N314K	p.N314K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			12	1162	+			314					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.942C>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713202	0.48517	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.21932	2.39;1.98;2.38;2.03;2.39	5.38	1.57	0.23409	.	0.098954	0.64402	D	0.000002	T	0.33644	0.0870	L	0.46157	1.445	0.38253	D	0.941672	D;D;D;D;D	0.71674	0.998;0.998;0.997;0.996;0.998	D;D;D;D;D	0.78314	0.991;0.986;0.986;0.986;0.986	T	0.10730	-1.0617	10	0.72032	D	0.01	-22.3339	8.4183	0.32685	0.0:0.546:0.0:0.454	.	307;299;299;314;314	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	K	314;314;307;299;314;314	ENSP00000260970:N314K;ENSP00000408683:N307K;ENSP00000386245:N299K;ENSP00000435987:N314K;ENSP00000407083:N314K	ENSP00000260970:N314K	N	+	3	2	PPIG	170197928	0.989000	0.36119	1.000000	0.80357	0.636000	0.38137	0.118000	0.15605	0.255000	0.21593	-0.251000	0.11542	AAC		0.393	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			16	38	1	0	1.33834e-09	1	1.62941e-09	16	38				
GBP6	163351	broad.mit.edu	37	1	89848258	89848258	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89848258G>A	ENST00000370456.4	+	8	1281	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	GBP6_ENST00000535065.1_Silent_p.L266L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	396					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTCTTGCTGCAGAATGAAG	0.418																																						ENST00000370456.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1186-1188)ctG>ctA		guanylate binding protein family, member 6							115.0	120.0	118.0					1																	89848258		2203	4300	6503	SO:0001819	synonymous_variant	163351						GTP binding|GTPase activity	g.chr1:89848258G>A	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1188G>A	1.37:g.89848258G>A						GBP6_ENST00000535065.1_Silent_p.L266L	p.L396L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	8	1281	+		Lung NSC(277;0.0908)	396					A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	ENST00000370456.4	37	c.1188G>A	CCDS723.1																																																																																				0.418	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		7	159	0	0	0	1	0	7	159				
CLEC18B	497190	broad.mit.edu	37	16	74451985	74451985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74451985C>T	ENST00000339953.5	-	3	549	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	143	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGGCGTTGCGAGCACACTC	0.627																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(427-429)cGc>cAc		C-type lectin domain family 18, member B							19.0	21.0	20.0					16																	74451985		1562	3343	4905	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74451985C>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.428G>A	16.37:g.74451985C>T	ENSP00000341051:p.Arg143His						p.R143H	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			3	549	-			143			SCP.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.428G>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	0.721	-0.783383	0.02907	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.08370	3.1	3.57	-6.56	0.01848	CAP domain (3);	1.443190	0.03844	N	0.271181	T	0.03915	0.0110	N	0.05554	-0.025	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.41233	-0.9520	10	0.38643	T	0.18	.	6.1124	0.20108	0.0:0.3374:0.4521:0.2106	.	143;143	C9JSV1;Q6UXF7	.;CL18B_HUMAN	H	143	ENSP00000341051:R143H	ENSP00000268492:R143H	R	-	2	0	CLEC18B	73009486	0.000000	0.05858	0.893000	0.35052	0.072000	0.16883	-2.118000	0.01325	-1.245000	0.02513	-1.508000	0.00951	CGC		0.627	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		9	17	0	0	0	1	0	9	17				
NFIC	4782	broad.mit.edu	37	19	3382050	3382050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3382050C>T	ENST00000443272.2	+	2	422	c.371C>T	c.(370-372)gCg>gTg	p.A124V	NFIC_ENST00000341919.3_Missense_Mutation_p.A124V|NFIC_ENST00000590282.1_Missense_Mutation_p.A124V|NFIC_ENST00000586919.1_Missense_Mutation_p.A115V|NFIC_ENST00000395111.3_Missense_Mutation_p.A115V|NFIC_ENST00000346156.5_Missense_Mutation_p.A115V|NFIC_ENST00000589123.1_Missense_Mutation_p.A115V	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	124					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTCCGGCAGGCGGACAAGGTG	0.662																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(343-345)gCg>gTg		nuclear factor I/C (CCAAT-binding transcription factor)							81.0	86.0	84.0					19																	3382050		2201	4297	6498	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3382050C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.371C>T	19.37:g.3382050C>T	ENSP00000396843:p.Ala124Val					NFIC_ENST00000443272.2_Missense_Mutation_p.A124V|NFIC_ENST00000346156.5_Missense_Mutation_p.A115V|NFIC_ENST00000341919.3_Missense_Mutation_p.A124V|NFIC_ENST00000590282.1_Missense_Mutation_p.A124V|NFIC_ENST00000395111.3_Missense_Mutation_p.A115V|NFIC_ENST00000586919.1_Missense_Mutation_p.A115V	p.A115V	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	464	+		Hepatocellular(1079;0.137)	124					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.344C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682284	0.88542	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.60171	0.21;0.39;0.21	3.88	3.88	0.44766	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.996;0.994;0.994;0.994	T	0.78620	-0.2133	10	0.87932	D	0	.	14.8198	0.70062	0.0:1.0:0.0:0.0	.	124;124;115;124;115	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	V	115;115;115;124;124;124	ENSP00000378543:A115V;ENSP00000301935:A115V;ENSP00000342194:A124V	ENSP00000269778:A124V	A	+	2	0	NFIC	3333050	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	7.515000	0.81761	1.879000	0.54435	0.467000	0.42956	GCG		0.662	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		44	63	0	0	0	1	0	44	63				
MAN2B1	4125	broad.mit.edu	37	19	12762982	12762982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12762982C>T	ENST00000456935.2	-	16	2071	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q	MAN2B1_ENST00000221363.4_Silent_p.Q676Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	677					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGGTGGATCTGAGCCCAGC	0.557																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2029-2031)caG>caA		mannosidase, alpha, class 2B, member 1							108.0	94.0	99.0					19																	12762982		2203	4300	6503	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12762982C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2031G>A	19.37:g.12762982C>T						MAN2B1_ENST00000221363.4_Silent_p.Q676Q	p.Q677Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			16	2071	-			677					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.2031G>A	CCDS32919.1																																																																																				0.557	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			18	45	0	0	0	1	0	18	45				
FGD4	121512	broad.mit.edu	37	12	32793451	32793451	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32793451A>C	ENST00000427716.2	+	17	2709	c.2285A>C	c.(2284-2286)aAa>aCa	p.K762T	FGD4_ENST00000546442.1_Missense_Mutation_p.K669T|FGD4_ENST00000531134.1_Missense_Mutation_p.K847T|FGD4_ENST00000525053.1_Missense_Mutation_p.K874T|FGD4_ENST00000534526.2_Missense_Mutation_p.K899T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	762					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAACCTAAGAAAAAATCAGAA	0.488																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2284-2286)aAa>aCa		FYVE, RhoGEF and PH domain containing 4							56.0	49.0	51.0					12																	32793451		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32793451A>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2285A>C	12.37:g.32793451A>C	ENSP00000394487:p.Lys762Thr					FGD4_ENST00000546442.1_Missense_Mutation_p.K669T|FGD4_ENST00000534526.2_Missense_Mutation_p.K899T|FGD4_ENST00000531134.1_Missense_Mutation_p.K847T|FGD4_ENST00000525053.1_Missense_Mutation_p.K874T	p.K762T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			17	2709	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		762					Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.2285A>C	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	9.301	1.053192	0.19907	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.71341	-0.56;-0.53;-0.52;-0.47;-0.56	5.42	-5.33	0.02713	.	0.896679	0.09459	N	0.799251	T	0.50205	0.1602	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.33189	-0.9878	10	0.39692	T	0.17	-0.0441	8.73	0.34494	0.3387:0.2041:0.4571:0.0	.	874;847;762	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	T	899;847;762;669;874	ENSP00000449273:K899T;ENSP00000431323:K847T;ENSP00000394487:K762T;ENSP00000446695:K669T;ENSP00000433666:K874T	ENSP00000394487:K762T	K	+	2	0	FGD4	32684718	0.323000	0.24643	0.001000	0.08648	0.920000	0.55202	0.026000	0.13599	-0.869000	0.04052	-0.376000	0.06991	AAA		0.488	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		4	42	0	0	0	1	0	4	42				
KCNQ5	56479	broad.mit.edu	37	6	73904319	73904319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73904319G>A	ENST00000370398.1	+	14	2090	c.1981G>A	c.(1981-1983)Gtg>Atg	p.V661M	KCNQ5_ENST00000403813.2_Missense_Mutation_p.V652M|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V671M|KCNQ5_ENST00000342056.2_Missense_Mutation_p.V680M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V551M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V662M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V661M	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	661					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TCAAAGCCCTGTGGATAGCAA	0.502																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2038-2040)Gtg>Atg		potassium voltage-gated channel, KQT-like subfamily, member 5							94.0	94.0	94.0					6																	73904319		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904319G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1981G>A	6.37:g.73904319G>A	ENSP00000359425:p.Val661Met					KCNQ5_ENST00000403813.2_Missense_Mutation_p.V652M|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V671M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V661M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V662M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V551M|KCNQ5_ENST00000370398.1_Missense_Mutation_p.V661M	p.V680M	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	15	2436	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	661					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2038G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716205	0.48622	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99409	-5.65;-5.65;-5.64;-5.65;-5.65;-5.68;-5.85	5.41	5.41	0.78517	.	0.299047	0.31438	N	0.007644	D	0.98582	0.9526	L	0.43152	1.355	0.21473	N	0.999678	D;P;P;P;P	0.67145	0.996;0.794;0.69;0.794;0.545	D;P;P;P;B	0.64776	0.929;0.642;0.535;0.642;0.438	D	0.95989	0.8984	10	0.49607	T	0.09	-2.1842	8.5669	0.33545	0.0788:0.0:0.758:0.1633	.	551;671;680;652;661	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	M	680;680;661;661;671;662;652;551	ENSP00000345055:V680M;ENSP00000347326:V661M;ENSP00000359425:V661M;ENSP00000385501:V671M;ENSP00000347853:V662M;ENSP00000384453:V652M;ENSP00000409861:V551M	ENSP00000345055:V680M	V	+	1	0	KCNQ5	73961040	0.504000	0.26123	0.609000	0.28983	0.881000	0.50899	2.069000	0.41481	2.527000	0.85204	0.561000	0.74099	GTG		0.502	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		7	66	0	0	0	1	0	7	66				
RAD23A	5886	broad.mit.edu	37	19	13063631	13063631	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13063631C>A	ENST00000586534.1	+	8	1003	c.942C>A	c.(940-942)atC>atA	p.I314I	RAD23A_ENST00000316856.3_Silent_p.I313I|RAD23A_ENST00000541222.1_Silent_p.I149I|RAD23A_ENST00000592268.1_Intron			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	314					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGAACTACATCCAGGTGACGC	0.622								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(940-942)atC>atA	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							39.0	41.0	40.0					19																	13063631		2203	4300	6503	SO:0001819	synonymous_variant	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13063631C>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.942C>A	19.37:g.13063631C>A						RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000316856.3_Silent_p.I313I|RAD23A_ENST00000541222.1_Silent_p.I149I	p.I314I			P54725	RD23A_HUMAN			8	1003	+			314					K7ESE3|Q59EU8|Q5M7Z1	Silent	SNP	ENST00000586534.1	37	c.942C>A	CCDS12289.1																																																																																				0.622	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		16	29	1	0	2.32078e-09	1	2.82054e-09	16	29				
TTN	7273	broad.mit.edu	37	2	179606396	179606396	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606396A>C	ENST00000591111.1	-	46	10837	c.10613T>G	c.(10612-10614)tTt>tGt	p.F3538C	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F3855C|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3684C|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F3492C|TTN_ENST00000359218.5_Missense_Mutation_p.F3617C			Q8WZ42	TITIN_HUMAN	titin	13873	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCCATTAAAGAACCACTG	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11563-11565)tTt>tGt		titin							117.0	113.0	114.0					2																	179606396		1914	4115	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606396A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10613T>G	2.37:g.179606396A>C	ENSP00000465570:p.Phe3538Cys					TTN_ENST00000460472.2_Missense_Mutation_p.F3492C|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.F3617C|TTN_ENST00000342175.6_Missense_Mutation_p.F3684C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F3538C	p.F3855C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	11788	-			3538					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11564T>G		.	.	.	.	.	.	.	.	.	.	A	10.57	1.387495	0.25031	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.42900	0.96;0.96;0.96	6.07	4.86	0.63082	.	.	.	.	.	T	0.30448	0.0765	L	0.28192	0.835	0.23758	N	0.996921	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.12915	-1.0529	9	0.87932	D	0	.	8.3589	0.32346	0.7326:0.1367:0.0:0.1307	.	3492;3617;3684	D3DPF9;E7EQE6;E7ET18	.;.;.	C	3492;3684;3617;3492	ENSP00000434586:F3492C;ENSP00000340554:F3684C;ENSP00000352154:F3617C	ENSP00000340554:F3684C	F	-	2	0	TTN	179314641	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.148000	0.50647	2.330000	0.79161	0.477000	0.44152	TTT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	58	0	0	0	1	0	34	58				
ZFP14	57677	broad.mit.edu	37	19	36831672	36831672	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36831672G>A	ENST00000270001.7	-	5	1171	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAAGTTGTTGGCATATTCTAA	0.393																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(1054-1056)tgC>tgT		ZFP14 zinc finger protein							95.0	93.0	94.0					19																	36831672		2203	4300	6503	SO:0001819	synonymous_variant	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831672G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1056C>T	19.37:g.36831672G>A							p.C352C	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	1171	-	Esophageal squamous(110;0.162)		352					A7MD23	Silent	SNP	ENST00000270001.7	37	c.1056C>T	CCDS33002.1																																																																																				0.393	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		30	46	0	0	0	1	0	30	46				
CAMK2A	815	broad.mit.edu	37	5	149619269	149619269	+	Intron	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149619269T>C	ENST00000348628.6	-	14	1650				CAMK2A_ENST00000351010.6_Intron|CAMK2A_ENST00000398376.3_Missense_Mutation_p.M339V	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha						calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCACCATTAACTGAACG	0.562																																						ENST00000398376.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1015-1017)Atg>Gtg		calcium/calmodulin-dependent protein kinase II alpha							109.0	111.0	110.0					5																	149619269		2044	4182	6226	SO:0001627	intron_variant	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149619269T>C	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.985-958A>G	5.37:g.149619269T>C						CAMK2A_ENST00000348628.6_Intron|CAMK2A_ENST00000351010.6_Intron	p.M339V			Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	1018	-		all_hematologic(541;0.224)	328					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1015A>G	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981015	0.34942	.	.	ENSG00000070808	ENST00000398376	T	0.66099	-0.19	5.49	5.49	0.81192	.	0.358612	0.27451	N	0.019308	T	0.45558	0.1348	N	0.14661	0.345	0.39815	D	0.972769	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39210	-0.9625	10	0.21540	T	0.41	.	15.571	0.76337	0.0:0.0:0.0:1.0	.	339;339	Q9UQM7-2;A8K161	.;.	V	339	ENSP00000381412:M339V	ENSP00000381412:M339V	M	-	1	0	CAMK2A	149599462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.096000	0.63516	0.402000	0.26972	ATG		0.562	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		14	18	0	0	0	1	0	14	18				
SACS	26278	broad.mit.edu	37	13	23914982	23914982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23914982C>T	ENST00000382292.3	-	9	3306	c.3033G>A	c.(3031-3033)caG>caA	p.Q1011Q	SACS_ENST00000382298.3_Silent_p.Q1011Q|SACS_ENST00000402364.1_Silent_p.Q261Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1011					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAACATAAGCTGTGTTACCT	0.328																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3031-3033)caG>caA		spastic ataxia of Charlevoix-Saguenay (sacsin)							115.0	118.0	117.0					13																	23914982		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914982C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3033G>A	13.37:g.23914982C>T						SACS_ENST00000382292.3_Silent_p.Q1011Q|SACS_ENST00000402364.1_Silent_p.Q261Q	p.Q1011Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3621	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1011					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.3033G>A	CCDS9300.2																																																																																				0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		55	79	0	0	0	1	0	55	79				
UACA	55075	broad.mit.edu	37	15	70969450	70969450	+	Silent	SNP	G	G	A	rs369346643		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70969450G>A	ENST00000322954.6	-	12	1214	c.1029C>T	c.(1027-1029)agC>agT	p.S343S	UACA_ENST00000539319.1_Silent_p.S234S|UACA_ENST00000379983.2_Silent_p.S330S|UACA_ENST00000560441.1_Silent_p.S330S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	343					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACCCTACCTCGCTTTCCAGAT	0.303																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(1027-1029)agC>agT		uveal autoantigen with coiled-coil domains and ankyrin repeats		G	,	0,4398		0,0,2199	62.0	67.0	65.0		990,1029	-2.0	1.0	15		65	1,8587	2.2+/-6.3	0,1,4293	no	coding-synonymous,coding-synonymous	UACA	NM_001008224.1,NM_018003.2	,	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	,	330/1404,343/1417	70969450	1,12985	2199	4294	6493	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70969450G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1029C>T	15.37:g.70969450G>A						UACA_ENST00000539319.1_Silent_p.S234S|UACA_ENST00000379983.2_Silent_p.S330S|UACA_ENST00000560441.1_Silent_p.S330S	p.S343S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			12	1214	-			343					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.1029C>T	CCDS10235.1																																																																																				0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			33	43	0	0	0	1	0	33	43				
SLC2A12	154091	broad.mit.edu	37	6	134350230	134350230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350230C>A	ENST00000275230.5	-	2	888	c.733G>T	c.(733-735)Gat>Tat	p.D245Y		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	245					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCAGTTGTATCTGAGAGTGCT	0.443																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(733-735)Gat>Tat		solute carrier family 2 (facilitated glucose transporter), member 12							74.0	74.0	74.0					6																	134350230		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350230C>A	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.733G>T	6.37:g.134350230C>A	ENSP00000275230:p.Asp245Tyr						p.D245Y	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	888	-	Breast(56;0.214)|Colorectal(23;0.221)		245					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.733G>T	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955092	0.34471	.	.	ENSG00000146411	ENST00000275230	T	0.76578	-1.03	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.294631	0.37053	N	0.002262	T	0.81322	0.4798	L	0.60957	1.885	0.43095	D	0.994779	D	0.71674	0.998	D	0.67725	0.953	D	0.83503	0.0076	10	0.72032	D	0.01	-12.4314	12.5188	0.56048	0.0:0.9234:0.0:0.0766	.	245	Q8TD20	GTR12_HUMAN	Y	245	ENSP00000275230:D245Y	ENSP00000275230:D245Y	D	-	1	0	SLC2A12	134391923	0.934000	0.31675	0.492000	0.27490	0.445000	0.32107	3.045000	0.49838	2.542000	0.85734	0.467000	0.42956	GAT		0.443	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			25	56	1	0	1.16021e-09	1	1.41486e-09	25	56				
YIPF6	286451	broad.mit.edu	37	X	67731767	67731767	+	Missense_Mutation	SNP	G	G	A	rs372593298		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67731767G>A	ENST00000462683.1	+	2	878	c.134G>A	c.(133-135)cGc>cAc	p.R45H	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	45					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						ATGAGATCTCGCATCCGGGAG	0.423																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(133-135)cGc>cAc		Yip1 domain family, member 6		G	,HIS/ARG	3,3832		0,2,1,1630,570	164.0	142.0	149.0		,134	0.6	0.1	X		149	1,6727		0,1,0,2427,1872	no	intron,missense	YIPF6	NM_001195214.1,NM_173834.3	,29	0,3,1,4057,2442	AA,AG,A,GG,G		0.0149,0.0782,0.0379	,benign	,45/237	67731767	4,10559	2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67731767G>A	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.134G>A	X.37:g.67731767G>A	ENSP00000417573:p.Arg45His					YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	p.R45H	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			2	878	+			45					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.134G>A	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596881	0.28445	7.82E-4	1.49E-4	ENSG00000181704	ENST00000462683	T	0.44083	0.93	5.66	0.637	0.17735	.	0.838030	0.11206	N	0.588213	T	0.18425	0.0442	N	0.04508	-0.205	0.29968	N	0.818806	B	0.06786	0.001	B	0.01281	0.0	T	0.17228	-1.0376	10	0.39692	T	0.17	-12.034	5.0781	0.14642	0.5803:0.1696:0.2501:0.0	.	45	Q96EC8	YIPF6_HUMAN	H	45	ENSP00000417573:R45H	ENSP00000417573:R45H	R	+	2	0	YIPF6	67648492	0.000000	0.05858	0.088000	0.20740	0.749000	0.42624	-0.015000	0.12634	0.056000	0.16144	-0.303000	0.09236	CGC		0.423	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		48	92	0	0	0	1	0	48	92				
HSF5	124535	broad.mit.edu	37	17	56536281	56536281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56536281G>A	ENST00000323777.3	-	5	1677	c.1568C>T	c.(1567-1569)aCc>aTc	p.T523I	AC023992.1_ENST00000581197.1_RNA	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	523					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGTGAACTGGTCTGGCATTT	0.398																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(1567-1569)aCc>aTc		heat shock transcription factor family member 5							198.0	187.0	191.0					17																	56536281		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56536281G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1568C>T	17.37:g.56536281G>A	ENSP00000313243:p.Thr523Ile						p.T523I	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			5	1677	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		523					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.1568C>T	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501455	0.44455	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.71461	-0.57	5.63	4.66	0.58398	.	0.397399	0.24238	N	0.040286	T	0.54013	0.1832	N	0.24115	0.695	0.27818	N	0.94188	P	0.35077	0.483	B	0.27887	0.084	T	0.56189	-0.8020	10	0.66056	D	0.02	.	12.1918	0.54275	0.0798:0.0:0.9202:0.0	.	523	Q4G112	HSF5_HUMAN	I	423;523	ENSP00000313243:T523I	ENSP00000313243:T523I	T	-	2	0	HSF5	53891280	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.251000	0.43187	1.533000	0.49186	0.655000	0.94253	ACC		0.398	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		8	202	0	0	0	1	0	8	202				
ZNF766	90321	broad.mit.edu	37	19	52785424	52785424	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52785424G>T	ENST00000439461.1	+	2	122	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	ZNF766_ENST00000593612.1_Missense_Mutation_p.D42Y|MIR643_ENST00000385267.1_RNA|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000600821.1_Missense_Mutation_p.D22Y|ZNF766_ENST00000359102.4_Missense_Mutation_p.D42Y|ZNF766_ENST00000599581.1_Missense_Mutation_p.D27Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAAATGCCTGGACCCTGTGCA	0.488																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(79-81)Gac>Tac		zinc finger protein 766							182.0	185.0	184.0					19																	52785424		2203	4300	6503	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52785424G>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.79G>T	19.37:g.52785424G>T	ENSP00000409652:p.Asp27Tyr					ZNF766_ENST00000593612.1_Missense_Mutation_p.D42Y|ZNF766_ENST00000600821.1_Missense_Mutation_p.D22Y|ZNF766_ENST00000359102.4_Missense_Mutation_p.D42Y|ZNF766_ENST00000599581.1_Missense_Mutation_p.D27Y	p.D27Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	2	122	+			27			KRAB.		B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.79G>T	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883236	0.17467	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.02863	4.13;4.13	2.91	0.316	0.15857	Krueppel-associated box (4);	.	.	.	.	T	0.16854	0.0405	H	0.96333	3.805	0.20638	N	0.999873	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.71870	0.957;0.939;0.975	T	0.09997	-1.0649	9	0.87932	D	0	.	2.3301	0.04233	0.1166:0.1919:0.4949:0.1967	.	42;42;27	G3XAE0;B3KUR0;Q5HY98	.;.;ZN766_HUMAN	Y	27;42	ENSP00000409652:D27Y;ENSP00000352005:D42Y	ENSP00000352005:D42Y	D	+	1	0	ZNF766	57477236	0.620000	0.27068	0.773000	0.31616	0.027000	0.11550	1.112000	0.31172	0.378000	0.24764	0.655000	0.94253	GAC		0.488	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		18	149	1	0	9.16793e-09	1	1.10245e-08	18	149				
TNFRSF10D	8793	broad.mit.edu	37	8	23003220	23003220	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23003220G>T	ENST00000312584.3	-	5	791	c.697C>A	c.(697-699)Cgg>Agg	p.R233R		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	233					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AATTTCTTCCGACATGAAAAG	0.517																																						ENST00000312584.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(697-699)Cgg>Agg		tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain							107.0	92.0	97.0					8																	23003220		2203	4300	6503	SO:0001819	synonymous_variant	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:23003220G>T	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.697C>A	8.37:g.23003220G>T							p.R233R	NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	5	791	-		Prostate(55;0.0421)|Breast(100;0.067)	233					B2R8W0|Q9Y6Q4	Silent	SNP	ENST00000312584.3	37	c.697C>A	CCDS6038.1																																																																																				0.517	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			23	25	1	0	1.10513e-12	1	1.39297e-12	23	25				
CDS2	8760	broad.mit.edu	37	20	5159552	5159552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159552G>A	ENST00000460006.1	+	5	786	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.R40Q	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	160					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAGCCTTTGCGGATTCTCAGT	0.393																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(478-480)cGg>cAg		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							176.0	163.0	168.0					20																	5159552		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5159552G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.479G>A	20.37:g.5159552G>A	ENSP00000419879:p.Arg160Gln					CDS2_ENST00000379062.4_Missense_Mutation_p.R40Q|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'UTR	p.R160Q	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			5	786	+			160					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.479G>A	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403978	0.42613	.	.	ENSG00000101290	ENST00000460006;ENST00000450570;ENST00000379062	T;T;T	0.43294	0.95;0.95;0.95	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	N	0.01417	-0.88	0.80722	D	1	B;B;B;B	0.27166	0.083;0.17;0.083;0.083	B;B;B;B	0.27380	0.016;0.079;0.016;0.016	T	0.15009	-1.0452	10	0.26408	T	0.33	-3.7795	16.8899	0.86084	0.0:0.0:1.0:0.0	.	40;160;160;160	E7EQ83;B3KM95;O95674;B3KNK4	.;.;CDS2_HUMAN;.	Q	160;105;40	ENSP00000419879:R160Q;ENSP00000403205:R105Q;ENSP00000368352:R40Q	ENSP00000368352:R40Q	R	+	2	0	CDS2	5107552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.407000	0.66363	2.545000	0.85829	0.655000	0.94253	CGG		0.393	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			42	79	0	0	0	1	0	42	79				
TCAIM	285343	broad.mit.edu	37	3	44441973	44441973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44441973C>A	ENST00000342649.4	+	9	1439	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	TCAIM_ENST00000417237.1_Missense_Mutation_p.L338I	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	338						mitochondrion (GO:0005739)											AGTATTGACACTTGAAGAATA	0.343																																						ENST00000342649.4																			0											c.(1012-1014)Ctt>Att		T cell activation inhibitor, mitochondrial							106.0	106.0	106.0					3																	44441973		2203	4296	6499	SO:0001583	missense	285343							g.chr3:44441973C>A		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1012C>A	3.37:g.44441973C>A	ENSP00000341539:p.Leu338Ile					TCAIM_ENST00000417237.1_Missense_Mutation_p.L338I	p.L338I	NM_173826.3	NP_776187.2					9	1439	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.1012C>A	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	C	5.195	0.221551	0.09863	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.46451	0.87;0.87	5.74	4.79	0.61399	.	0.115474	0.56097	D	0.000037	T	0.21801	0.0525	N	0.04355	-0.22	0.29223	N	0.873781	B	0.12013	0.005	B	0.16722	0.016	T	0.05468	-1.0883	10	0.15066	T	0.55	.	14.9436	0.71012	0.2218:0.7782:0.0:0.0	.	338	Q8N3R3	CC023_HUMAN	I	338	ENSP00000402581:L338I;ENSP00000341539:L338I	ENSP00000341539:L338I	L	+	1	0	C3orf23	44416977	0.071000	0.21146	0.712000	0.30502	0.998000	0.95712	0.410000	0.21098	2.707000	0.92482	0.563000	0.77884	CTT		0.343	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		9	77	1	0	0.00448238	1	0.00472561	9	77				
KIF13A	63971	broad.mit.edu	37	6	17794856	17794856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17794856C>T	ENST00000259711.6	-	24	3127	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	KIF13A_ENST00000378814.5_Missense_Mutation_p.E1008K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1008K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1008K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1008K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1008					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGATGAAGTTCCACTGCAGCA	0.388																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3022-3024)Gaa>Aaa		kinesin family member 13A							88.0	85.0	86.0					6																	17794856		1929	4134	6063	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17794856C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3022G>A	6.37:g.17794856C>T	ENSP00000259711:p.Glu1008Lys					KIF13A_ENST00000259711.6_Missense_Mutation_p.E1008K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1008K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1008K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1008K	p.E1008K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		24	3021	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1008					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3022G>A	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.523565|5.523565	0.96431|0.96431	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.74842|.	-0.85;1.63;-0.88;-0.85;-0.85;-0.85|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73249|.	0.3563|.	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.997;0.995;1.0;0.995|.	D;D;D;D|.	0.85130|.	0.979;0.917;0.997;0.917|.	T|.	0.71401|.	-0.4604|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.861|19.861	0.96785|0.96785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1008;1008;1008;1008|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	K|X	1008;25;1008;1008;1008;1008;68|401	ENSP00000368091:E1008K;ENSP00000425616:E25K;ENSP00000259711:E1008K;ENSP00000368103:E1008K;ENSP00000368120:E1008K;ENSP00000368093:E1008K|.	ENSP00000259711:E1008K|.	E|W	-|-	1|3	0|0	KIF13A|KIF13A	17902835|17902835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.669000|7.669000	0.83911|0.83911	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.388	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			10	17	0	0	0	1	0	10	17				
SKIDA1	387640	broad.mit.edu	37	10	21804047	21804047	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21804047T>C	ENST00000449193.2	-	4	4957	c.2705A>G	c.(2704-2706)aAa>aGa	p.K902R	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K823R	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	821						nucleus (GO:0005634)											TTTCCTGAATTTGTGACTAGG	0.388																																						ENST00000449193.2																			0											c.(2704-2706)aAa>aGa		SKI/DACH domain containing 1							28.0	27.0	27.0					10																	21804047		1812	4077	5889	SO:0001583	missense	387640							g.chr10:21804047T>C	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2705A>G	10.37:g.21804047T>C	ENSP00000410041:p.Lys902Arg					SKIDA1_ENST00000444772.3_Missense_Mutation_p.K823R	p.K902R	NM_207371.3	NP_997254.3					4	4957	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2705A>G	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082186	0.36758	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.94	5.94	0.96194	.	0.112327	0.64402	D	0.000014	T	0.39860	0.1094	L	0.31926	0.97	0.36862	D	0.888436	P	0.43750	0.816	B	0.32762	0.152	T	0.51545	-0.8692	9	0.44086	T	0.13	-2.4236	16.0605	0.80836	0.0:0.0:0.0:1.0	.	902	E9PAX1	.	R	902;823	.	ENSP00000442432:K823R	K	-	2	0	C10orf140	21844053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.710000	0.54860	2.276000	0.75962	0.533000	0.62120	AAA		0.388	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		4	23	0	0	0	1	0	4	23				
PCDHB7	56129	broad.mit.edu	37	5	140552833	140552833	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140552833C>A	ENST00000231137.3	+	1	591	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	139	Cadherin 2. {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)			GAGAGATTTCCTTGAAAATAT	0.428																																						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.(415-417)tcC>tcA									54.0	59.0	57.0					5																	140552833		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.chr5:140552833C>A	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.417C>A	5.37:g.140552833C>A							p.S139S	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	591	+			139			Cadherin 2.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.417C>A	CCDS4249.1																																																																																				0.428	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		32	44	1	0	6.97489e-18	1	9.07097e-18	32	44				
MKNK1	8569	broad.mit.edu	37	1	47030791	47030791	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47030791G>T	ENST00000371946.4	-	10	853	c.690C>A	c.(688-690)atC>atA	p.I230I	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_Silent_p.I189I|MKNK1_ENST00000428112.2_Silent_p.I189I|MKNK1_ENST00000371945.4_Silent_p.I189I|MKNK1_ENST00000371944.4_Silent_p.I94I	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CAAAGTCACAGATTTTCACTG	0.512																																						ENST00000371946.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13						c.(688-690)atC>atA		MAP kinase interacting serine/threonine kinase 1							206.0	201.0	203.0					1																	47030791		2203	4300	6503	SO:0001819	synonymous_variant	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47030791G>T	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.690C>A	1.37:g.47030791G>T						MKNK1_ENST00000341183.5_Silent_p.I189I|MKNK1_ENST00000428112.2_Silent_p.I189I|MKNK1_ENST00000371944.4_Silent_p.I94I|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Silent_p.I189I	p.I230I	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN			10	853	-	Acute lymphoblastic leukemia(166;0.155)		230			Protein kinase.		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	ENST00000371946.4	37	c.690C>A	CCDS538.1																																																																																				0.512	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		26	139	1	0	7.76418e-22	1	1.02329e-21	26	139				
TMEM168	64418	broad.mit.edu	37	7	112424426	112424426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112424426G>A	ENST00000312814.6	-	2	1015	c.455C>T	c.(454-456)aCt>aTt	p.T152I	TMEM168_ENST00000454074.1_Missense_Mutation_p.T152I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	152						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTAGTAAAGTGGGCCGATG	0.408																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(454-456)aCt>aTt		transmembrane protein 168							75.0	74.0	74.0					7																	112424426		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424426G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.455C>T	7.37:g.112424426G>A	ENSP00000323068:p.Thr152Ile					TMEM168_ENST00000454074.1_Missense_Mutation_p.T152I	p.T152I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1015	-			152					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.455C>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727632	0.48833	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.087086	0.85682	D	0.000000	T	0.47673	0.1458	L	0.38531	1.155	0.80722	D	1	P	0.38677	0.642	B	0.34452	0.183	T	0.40850	-0.9541	9	0.10377	T	0.69	-3.051	20.6397	0.99537	0.0:0.0:1.0:0.0	.	152	Q9H0V1	TM168_HUMAN	I	152	.	ENSP00000323068:T152I	T	-	2	0	TMEM168	112211662	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.984000	0.88150	2.880000	0.98712	0.650000	0.86243	ACT		0.408	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		8	82	0	0	0	1	0	8	82				
SPTB	6710	broad.mit.edu	37	14	65264467	65264467	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65264467G>T	ENST00000389721.5	-	9	1194	c.1162C>A	c.(1162-1164)Cta>Ata	p.L388I	SPTB_ENST00000389722.3_Missense_Mutation_p.L388I|SPTB_ENST00000556626.1_Missense_Mutation_p.L388I|SPTB_ENST00000389720.3_Missense_Mutation_p.L388I|SPTB_ENST00000542895.1_Missense_Mutation_p.L388I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	388					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGACACTAGTTTCCCATCG	0.453																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1162-1164)Cta>Ata		spectrin, beta, erythrocytic							230.0	204.0	213.0					14																	65264467		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65264467G>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1162C>A	14.37:g.65264467G>T	ENSP00000374371:p.Leu388Ile					SPTB_ENST00000556626.1_Missense_Mutation_p.L388I|SPTB_ENST00000542895.1_Missense_Mutation_p.L388I|SPTB_ENST00000389720.3_Missense_Mutation_p.L388I|SPTB_ENST00000389721.5_Missense_Mutation_p.L388I	p.L388I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	9	1215	-		all_lung(585;4.15e-09)	388					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1162C>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.830964	0.71258	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.95	3.19	0.36642	.	0.000000	0.64402	D	0.000001	T	0.70020	0.3176	M	0.88310	2.945	0.50171	D	0.999858	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.942	T	0.71547	-0.4560	10	0.56958	D	0.05	.	10.5867	0.45286	0.2106:0.0:0.7894:0.0	.	388;392	P11277;Q59FP5	SPTB1_HUMAN;.	I	392;388;388;388;388;388	ENSP00000374372:L388I;ENSP00000451752:L388I;ENSP00000374371:L388I;ENSP00000443882:L388I;ENSP00000374370:L388I	ENSP00000374370:L388I	L	-	1	2	SPTB	64334220	1.000000	0.71417	0.333000	0.25482	0.964000	0.63967	3.567000	0.53813	0.440000	0.26502	0.650000	0.86243	CTA		0.453	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			9	109	1	0	1.12685e-05	1	1.27857e-05	9	109				
ERBB4	2066	broad.mit.edu	37	2	212543838	212543838	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212543838G>T	ENST00000342788.4	-	13	1871	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	ERBB4_ENST00000402597.1_Missense_Mutation_p.L521M|ERBB4_ENST00000436443.1_Missense_Mutation_p.L521M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	521	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CGACACGACAGACATTGGTCT	0.498										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(1561-1563)Ctg>Atg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							85.0	74.0	78.0					2																	212543838		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212543838G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1561C>A	2.37:g.212543838G>T	ENSP00000342235:p.Leu521Met	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.L521M|ERBB4_ENST00000436443.1_Missense_Mutation_p.L521M	p.L521M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	13	1871	-		Renal(323;0.06)|Lung NSC(271;0.197)	521			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1561C>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984951	0.35036	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.53206	0.63;0.63;0.63	5.33	2.08	0.27032	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.85041	2.73	0.51012	D	0.999907	D;D;D;D;D	0.89917	1.0;0.985;0.993;1.0;0.999	D;P;P;D;D	0.97110	1.0;0.817;0.862;1.0;0.999	T	0.68070	-0.5506	10	0.54805	T	0.06	.	9.4607	0.38783	0.3278:0.0:0.6722:0.0	.	521;521;380;521;521	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	M	521	ENSP00000342235:L521M;ENSP00000403204:L521M;ENSP00000385565:L521M	ENSP00000342235:L521M	L	-	1	2	ERBB4	212252083	1.000000	0.71417	0.998000	0.56505	0.148000	0.21650	2.005000	0.40864	0.633000	0.30452	0.591000	0.81541	CTG		0.498	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		5	26	1	0	1.23904e-05	1	1.39987e-05	5	26				
ARVCF	421	broad.mit.edu	37	22	19960456	19960456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19960456G>A	ENST00000263207.3	-	15	2833	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	ARVCF_ENST00000401994.1_Missense_Mutation_p.R785C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R779C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R842C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R785C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	848					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACCTGGAAGCGCGCCTTGGTC	0.567																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2542-2544)Cgc>Tgc		armadillo repeat gene deleted in velocardiofacial syndrome							165.0	149.0	154.0					22																	19960456		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960456G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2542C>T	22.37:g.19960456G>A	ENSP00000263207:p.Arg848Cys					ARVCF_ENST00000406259.1_Missense_Mutation_p.R842C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R785C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R779C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R785C	p.R848C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			15	2833	-	Colorectal(54;0.0993)		848					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2542C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171189	0.57584	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.68025	-0.3;-0.23;-0.23;-0.23;-0.3	4.36	4.36	0.52297	.	0.165679	0.52532	D	0.000065	T	0.53417	0.1795	N	0.22421	0.69	0.49798	D	0.999822	D;D	0.67145	0.972;0.996	P;P	0.45610	0.453;0.487	T	0.51926	-0.8643	9	.	.	.	-19.6893	11.426	0.50012	0.0:0.0:0.8192:0.1808	.	848;364	O00192;E7EV58	ARVC_HUMAN;.	C	848;785;785;779;842	ENSP00000263207:R848C;ENSP00000342042:R785C;ENSP00000384341:R785C;ENSP00000384732:R779C;ENSP00000385444:R842C	.	R	-	1	0	ARVCF	18340456	0.985000	0.35326	0.995000	0.50966	0.183000	0.23260	1.845000	0.39279	2.421000	0.82119	0.561000	0.74099	CGC		0.567	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		14	95	0	0	0	1	0	14	95				
RBM10	8241	broad.mit.edu	37	X	47039292	47039292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47039292C>T	ENST00000377604.3	+	10	1657	c.915C>T	c.(913-915)cgC>cgT	p.R305R	RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_Silent_p.R228R|RBM10_ENST00000329236.7_Silent_p.R228R	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	305	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATTTTGCGCAACCTGAACC	0.602																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(913-915)cgC>cgT		RNA binding motif protein 10							49.0	26.0	34.0					X																	47039292		2202	4298	6500	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039292C>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.915C>T	X.37:g.47039292C>T						RBM10_ENST00000345781.6_Silent_p.R228R|RBM10_ENST00000329236.7_Silent_p.R228R|RBM10_ENST00000468791.1_Intron	p.R305R	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			10	1657	+			305			RRM 2.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.915C>T	CCDS14274.1																																																																																				0.602	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		6	5	0	0	0	1	0	6	5				
EP400	57634	broad.mit.edu	37	12	132491285	132491285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132491285G>A	ENST00000333577.4	+	16	3384	c.3275G>A	c.(3274-3276)aGa>aAa	p.R1092K	EP400_ENST00000332482.4_Missense_Mutation_p.R1019K|EP400_ENST00000389561.2_Missense_Mutation_p.R1056K|EP400_ENST00000330386.6_Missense_Mutation_p.R1056K|EP400_ENST00000389562.2_Missense_Mutation_p.R1055K			Q96L91	EP400_HUMAN	E1A binding protein p400	1092	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGGGCTCTCAGAGATTATCAG	0.428																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3274-3276)aGa>aAa		E1A binding protein p400							78.0	76.0	77.0					12																	132491285		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132491285G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3275G>A	12.37:g.132491285G>A	ENSP00000333602:p.Arg1092Lys					EP400_ENST00000332482.4_Missense_Mutation_p.R1019K|EP400_ENST00000389561.2_Missense_Mutation_p.R1056K|EP400_ENST00000389562.2_Missense_Mutation_p.R1055K|EP400_ENST00000330386.6_Missense_Mutation_p.R1056K	p.R1092K			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	16	3384	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1092			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3275G>A		.	.	.	.	.	.	.	.	.	.	G	15.34	2.803676	0.50315	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	M	0.78637	2.42	0.45607	D	0.998542	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.77557	0.99;0.99;0.99	D	0.97647	1.0152	10	0.87932	D	0	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	1056;1056;1055	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	1092;1056;1055;1019;1056;1056;1056	ENSP00000333602:R1092K;ENSP00000374212:R1056K;ENSP00000374213:R1055K;ENSP00000331737:R1019K;ENSP00000330620:R1056K	ENSP00000330620:R1056K	R	+	2	0	EP400	131057238	1.000000	0.71417	0.993000	0.49108	0.468000	0.32798	9.830000	0.99415	2.601000	0.87937	0.460000	0.39030	AGA		0.428	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		27	36	0	0	0	1	0	27	36				
GSTT1	2952	broad.mit.edu	37	22	24376858	24376858	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24376858G>A	ENST00000248935.5	-	4	544	c.492C>T	c.(490-492)tcC>tcT	p.S164S	KB-226F1.1_ENST00000608619.1_RNA|GSTT1_ENST00000439996.2_Silent_p.S46S	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		164	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	GGTCAGCTAAGGAGATGTGAG	0.577									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(490-492)tcC>tcT		glutathione S-transferase theta 1	Glutathione(DB00143)						106.0	74.0	84.0					22																	24376858		1715	3606	5321	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24376858G>A																												ENST00000248935.5:c.492C>T	22.37:g.24376858G>A						GSTT1_ENST00000439996.2_Silent_p.S46S	p.S164S	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			4	544	-			164			GST C-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.492C>T	CCDS13822.1																																																																																				0.577	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			16	3	0	0	0	1	0	16	3				
PCDHB1	29930	broad.mit.edu	37	5	140431571	140431571	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140431571G>A	ENST00000306549.3	+	1	593	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	172	Cadherin 2. {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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACACCCTGAGTGCCAATG	0.562																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(514-516)ctG>ctA									49.0	50.0	50.0					5																	140431571		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431571G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.516G>A	5.37:g.140431571G>A							p.L172L	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	593	+			172			Cadherin 2.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.516G>A	CCDS4243.1																																																																																				0.562	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	37	0	0	0	1	0	6	37				
ZNF324B	388569	broad.mit.edu	37	19	58967899	58967899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967899C>T	ENST00000336614.4	+	4	1695	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	ZNF324B_ENST00000391696.1_Missense_Mutation_p.R520C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R530C	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGGAAGGTGCGCCGGGGAGG	0.607																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1558-1560)Cgc>Tgc		zinc finger protein 324B							46.0	56.0	53.0					19																	58967899		2201	4299	6500	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967899C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1588C>T	19.37:g.58967899C>T	ENSP00000337473:p.Arg530Cys					ZNF324B_ENST00000336614.4_Missense_Mutation_p.R530C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R530C	p.R520C			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	2490	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	530					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1558C>T	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355306	0.24512	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07688	3.35;3.35;3.17	2.28	1.23	0.21249	.	.	.	.	.	T	0.06325	0.0163	N	0.19112	0.55	0.09310	N	1	D;D	0.69078	0.997;0.997	B;B	0.44315	0.446;0.446	T	0.35400	-0.9790	9	0.87932	D	0	.	6.8982	0.24267	0.0:0.8473:0.0:0.1527	.	530;520	Q6AW86;C9JTQ8	Z324B_HUMAN;.	C	530;530;520	ENSP00000337473:R530C;ENSP00000438930:R530C;ENSP00000375578:R520C	ENSP00000337473:R530C	R	+	1	0	ZNF324B	63659711	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.150000	0.10189	0.513000	0.28278	0.467000	0.42956	CGC		0.607	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		21	26	0	0	0	1	0	21	26				
EMX2	2018	broad.mit.edu	37	10	119307642	119307642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119307642G>T	ENST00000553456.3	+	3	1482	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Missense_Mutation_p.R158I	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	220					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGAAGGCTCAGATTCGCAACA	0.488																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(658-660)Gat>Tat		empty spiracles homeobox 2							64.0	60.0	62.0					10																	119307642		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119307642G>T	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.658G>T	10.37:g.119307642G>T	ENSP00000450962:p.Asp220Tyr					EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Missense_Mutation_p.R158I	p.D220Y	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	3	1482	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	220					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.658G>T	CCDS7601.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.517731|4.517731	0.85495|0.85495	.|.	.|.	ENSG00000170370|ENSG00000258614	ENST00000369201|ENST00000553456	.|D	.|0.99176	.|-5.52	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.045504|.	0.85682|.	D|.	0.000000|.	D|D	0.98204|0.98204	0.9406|0.9406	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	P|B	0.42203|0.28880	0.773|0.226	B|B	0.42087|0.37304	0.375|0.246	D|D	0.98813|0.98813	1.0744|1.0744	9|8	0.66056|.	D|.	0.02|.	-6.3881|-6.3881	18.9635|18.9635	0.92685|0.92685	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|158	Q04743|G3V305	EMX2_HUMAN|.	Y|I	220|158	.|ENSP00000450962:R158I	ENSP00000358202:D220Y|.	D|R	+|+	1|2	0|0	EMX2|AC005871.1	119297632|119297632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.321000|9.321000	0.96353|0.96353	2.473000|2.473000	0.83533|0.83533	0.549000|0.549000	0.68633|0.68633	GAT|AGA		0.488	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		9	12	1	0	2.80697e-09	1	3.39963e-09	9	12				
RBM41	55285	broad.mit.edu	37	X	106310818	106310818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106310818A>G	ENST00000372479.3	-	7	1211	c.1181T>C	c.(1180-1182)cTc>cCc	p.L394P	RBM41_ENST00000372487.1_Missense_Mutation_p.L394P	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	394							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						AGTCGCTTGGAGATTTGACCG	0.383																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(1180-1182)cTc>cCc		RNA binding motif protein 41							220.0	206.0	211.0					X																	106310818		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106310818A>G	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1181T>C	X.37:g.106310818A>G	ENSP00000361557:p.Leu394Pro					RBM41_ENST00000372479.3_Missense_Mutation_p.L394P	p.L394P	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN			7	1207	-			394					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.1181T>C	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	A	8.863	0.947361	0.18356	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.25749	1.81;1.78	5.72	4.52	0.55395	.	0.901730	0.09347	N	0.814734	T	0.15609	0.0376	N	0.19112	0.55	0.20703	N	0.999866	B	0.32693	0.38	B	0.25759	0.063	T	0.22382	-1.0218	10	0.33141	T	0.24	.	7.8799	0.29616	0.9046:0.0:0.0954:0.0	.	394	Q96IZ5	RBM41_HUMAN	P	394	ENSP00000361565:L394P;ENSP00000361557:L394P	ENSP00000361557:L394P	L	-	2	0	RBM41	106197474	0.290000	0.24343	0.236000	0.24074	0.847000	0.48162	0.590000	0.23954	0.756000	0.33013	0.417000	0.27973	CTC		0.383	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		7	262	0	0	0	1	0	7	262				
THSD4	79875	broad.mit.edu	37	15	71447271	71447271	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71447271G>T	ENST00000355327.3	+	3	233	c.99G>T	c.(97-99)aaG>aaT	p.K33N	THSD4_ENST00000261862.6_Splice_Site_p.K33N|RP11-673C5.2_ENST00000561571.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	33					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACACAGGAAGGTAAGCCATG	0.527																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e3+1		thrombospondin, type I, domain containing 4							210.0	207.0	208.0					15																	71447271		2061	4210	6271	SO:0001630	splice_region_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71447271G>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.99+1G>T	15.37:g.71447271G>T						RP11-673C5.2_ENST00000561571.1_RNA|THSD4_ENST00000261862.6_Splice_Site_p.K33_splice	p.K33_splice			Q6ZMP0	THSD4_HUMAN			3	233	+			33					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Splice_Site	SNP	ENST00000355327.3	37	c.99_splice	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630435	0.67015	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.63255	-0.03;-0.03	4.96	4.05	0.47172	.	0.297835	0.31102	N	0.008244	T	0.60196	0.2250	N	0.19112	0.55	0.28805	N	0.898581	D	0.69078	0.997	P	0.60789	0.879	T	0.57136	-0.7863	10	0.72032	D	0.01	.	9.4141	0.38510	0.0959:0.0:0.9041:0.0	.	33	Q6ZMP0	THSD4_HUMAN	N	33	ENSP00000347484:K33N;ENSP00000261862:K33N	ENSP00000261862:K33N	K	+	3	2	THSD4	69234325	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.113000	0.57851	1.332000	0.45431	-0.122000	0.15005	AAG		0.527	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817	Missense_Mutation	20	31	1	0	2.32416e-17	1	3.01417e-17	20	31				
CELSR2	1952	broad.mit.edu	37	1	109812366	109812366	+	Missense_Mutation	SNP	G	G	A	rs570931149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109812366G>A	ENST00000271332.3	+	22	7092	c.7031G>A	c.(7030-7032)cGc>cAc	p.R2344H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2344	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCGTCTTCCGCAATGAGAGC	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(7030-7032)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							92.0	98.0	96.0					1																	109812366		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109812366G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7031G>A	1.37:g.109812366G>A	ENSP00000271332:p.Arg2344His						p.R2344H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	22	7092	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2344			GPS.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.7031G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504221	0.64410	.	.	ENSG00000143126	ENST00000271332	T	0.66638	-0.22	3.81	3.81	0.43845	GPS domain (3);	.	.	.	.	T	0.73814	0.3635	M	0.62209	1.925	0.48571	D	0.999675	D	0.89917	1.0	D	0.85130	0.997	T	0.75741	-0.3211	9	0.48119	T	0.1	.	15.4785	0.75504	0.0:0.0:1.0:0.0	.	2344	Q9HCU4	CELR2_HUMAN	H	2344	ENSP00000271332:R2344H	ENSP00000271332:R2344H	R	+	2	0	CELSR2	109613889	1.000000	0.71417	0.999000	0.59377	0.427000	0.31564	9.122000	0.94380	1.972000	0.57404	0.462000	0.41574	CGC		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		76	61	0	0	0	1	0	76	61				
RALGDS	5900	broad.mit.edu	37	9	135974142	135974142	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135974142C>T	ENST00000372050.3	-	18	2598	c.2577G>A	c.(2575-2577)aaG>aaA	p.K859K	RALGDS_ENST00000372062.3_Silent_p.K830K|RALGDS_ENST00000393157.3_Silent_p.K858K|RALGDS_ENST00000542690.1_Silent_p.K930K|RALGDS_ENST00000393160.3_Silent_p.K804K|RALGDS_ENST00000372047.3_Silent_p.K847K|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	859	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTTCAGGGATCTTCAGCTCTG	0.562			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2410-2412)aaG>aaA		ral guanine nucleotide dissociation stimulator							87.0	73.0	78.0					9																	135974142		2203	4300	6503	SO:0001819	synonymous_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135974142C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2577G>A	9.37:g.135974142C>T						RALGDS_ENST00000393157.3_Silent_p.K858K|RALGDS_ENST00000372062.3_Silent_p.K830K|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.K847K|RALGDS_ENST00000372050.3_Silent_p.K859K|RALGDS_ENST00000542690.1_Silent_p.K930K	p.K804K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	18	2765	-			859			Ras-associating.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	c.2412G>A	CCDS6959.1																																																																																				0.562	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		12	36	0	0	0	1	0	12	36				
LARS	51520	broad.mit.edu	37	5	145552302	145552302	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145552302T>C	ENST00000394434.2	-	3	327	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_De_novo_Start_OutOfFrame|LARS_ENST00000545646.1_Missense_Mutation_p.Y54C|LARS_ENST00000274562.9_Missense_Mutation_p.Y54C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	54					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCATTCATATATGGATATGG	0.348																																						ENST00000510191.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34								leucyl-tRNA synthetase	L-Leucine(DB00149)						99.0	93.0	95.0					5																	145552302		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145552302T>C	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.161A>G	5.37:g.145552302T>C	ENSP00000377954:p.Tyr54Cys					LARS_ENST00000545646.1_Missense_Mutation_p.Y54C|LARS_ENST00000274562.9_Missense_Mutation_p.Y54C|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000394434.2_Missense_Mutation_p.Y54C				Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	171	-								A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Translation_Start_Site	SNP	ENST00000394434.2	37		CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847200	0.91277	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000274562;ENST00000360930	T;T;T	0.80909	-1.43;-1.43;-1.43	6.01	6.01	0.97437	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.94479	0.8223	H	0.99211	4.47	0.80722	D	1	D;D;D	0.89917	1.0;0.971;1.0	D;P;D	0.91635	0.998;0.903;0.999	D	0.96789	0.9581	10	0.87932	D	0	-4.3789	16.5285	0.84344	0.0:0.0:0.0:1.0	.	54;54;54	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	C	54	ENSP00000377954:Y54C;ENSP00000437791:Y54C;ENSP00000274562:Y54C	ENSP00000274562:Y54C	Y	-	2	0	LARS	145532495	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.421000	0.80204	2.307000	0.77673	0.528000	0.53228	TAT		0.348	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		7	45	0	0	0	1	0	7	45				
MIR450A1	554214	broad.mit.edu	37	X	133674608	133674608	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133674608T>C	ENST00000362262.1	-	0	0				MIR450A2_ENST00000385022.1_RNA|MIR542_ENST00000385050.1_RNA|MIR450B_ENST00000401182.1_RNA	NR_029962.1				microRNA 450a-1																		TAGGAACACATCGCAAAAATA	0.318																																						ENST00000385022.1																			0																				127.0	100.0	108.0					X																	133674608		1567	3581	5148			0							g.chrX:133674608T>C			Xq26.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000199132	ENSG00000199132		"""ncRNAs / Micro RNAs"""	28008	non-coding RNA	RNA, micro			"""microRNA 450"", ""microRNA 450-1"""	MIRN450, MIRN450-1, MIRN450A1			Standard	NR_029962		Approved	hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1	uc011mvl.2				X.37:g.133674608T>C								NR_030227.1						0	29	-									RNA	SNP	ENST00000362262.1	37																																																																																						0.318	MIR450A1-201	KNOWN	basic	miRNA	miRNA		NR_029962		4	77	0	0	0	1	0	4	77				
IQCD	115811	broad.mit.edu	37	12	113633583	113633583	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113633583G>A	ENST00000416617.2	-	5	1337	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	IQCD_ENST00000299732.2_Missense_Mutation_p.R281W			Q96DY2	IQCD_HUMAN	IQ motif containing D	383										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTGATCTCCCGCTCTTCCCGG	0.597																																						ENST00000416617.2																			0				endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1147-1149)Cgg>Tgg		IQ motif containing D							121.0	108.0	113.0					12																	113633583		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113633583G>A	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.1147C>T	12.37:g.113633583G>A	ENSP00000400669:p.Arg383Trp					IQCD_ENST00000299732.2_Missense_Mutation_p.R281W	p.R383W			Q96DY2	IQCD_HUMAN			5	1337	-			383					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.1147C>T		.	.	.	.	.	.	.	.	.	.	G	11.15	1.554014	0.27739	.	.	ENSG00000166578	ENST00000299732;ENST00000416617	T;T	0.56444	2.79;0.46	4.29	-1.5	0.08691	.	.	.	.	.	T	0.65616	0.2708	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.56595	-0.7953	8	0.72032	D	0.01	-1.9504	8.2942	0.31976	0.0865:0.0:0.3392:0.5743	.	281	Q96DY2-2	.	W	281;383	ENSP00000299732:R281W;ENSP00000400669:R383W	ENSP00000299732:R281W	R	-	1	2	IQCD	112117966	0.264000	0.24093	0.001000	0.08648	0.004000	0.04260	0.426000	0.21363	-0.177000	0.10690	0.561000	0.74099	CGG		0.597	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		36	51	0	0	0	1	0	36	51				
ITGAX	3687	broad.mit.edu	37	16	31367254	31367254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31367254G>A	ENST00000268296.4	+	2	199	c.78G>A	c.(76-78)gaG>gaA	p.E26E	ITGAX_ENST00000562522.1_Silent_p.E26E|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	26					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACACAGAGGAGCTGACAGCCT	0.577																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(76-78)gaG>gaA		integrin, alpha X (complement component 3 receptor 4 subunit)							182.0	173.0	176.0					16																	31367254		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31367254G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.78G>A	16.37:g.31367254G>A						ITGAX_ENST00000562522.1_Silent_p.E26E|ITGAX_ENST00000562918.1_3'UTR	p.E26E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			2	199	+			26					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.78G>A	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		98	134	0	0	0	1	0	98	134				
ZNF281	23528	broad.mit.edu	37	1	200376235	200376235	+	Missense_Mutation	SNP	C	C	T	rs544847448		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376235C>T	ENST00000294740.3	-	2	2723	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	ZNF281_ENST00000367352.3_Missense_Mutation_p.D831N|ZNF281_ENST00000367353.1_Missense_Mutation_p.D867N	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	867					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGAGAAATCTGACACTGAA	0.443																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2599-2601)Gat>Aat		zinc finger protein 281							127.0	132.0	130.0					1																	200376235		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376235C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2599G>A	1.37:g.200376235C>T	ENSP00000294740:p.Asp867Asn					ZNF281_ENST00000367353.1_Missense_Mutation_p.D867N|ZNF281_ENST00000367352.3_Missense_Mutation_p.D831N	p.D867N	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2723	-			867					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2599G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798974	0.70567	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.09163	3.02;3.02;3.01	5.61	5.61	0.85477	.	0.051533	0.85682	D	0.000000	T	0.13798	0.0334	N	0.08118	0	0.58432	D	0.999994	D;D	0.55172	0.97;0.97	P;P	0.54346	0.749;0.749	T	0.19289	-1.0310	10	0.87932	D	0	-16.8817	19.6342	0.95722	0.0:1.0:0.0:0.0	.	831;867	A6NF48;Q9Y2X9	.;ZN281_HUMAN	N	867;867;831;572	ENSP00000294740:D867N;ENSP00000356322:D867N;ENSP00000356321:D831N	ENSP00000294740:D867N	D	-	1	0	ZNF281	198642858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.630000	0.89119	0.655000	0.94253	GAT		0.443	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		45	90	0	0	0	1	0	45	90				
BEND3	57673	broad.mit.edu	37	6	107390913	107390913	+	Silent	SNP	C	C	T	rs542682427	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390913C>T	ENST00000369042.1	-	4	1672	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	BEND3_ENST00000429433.2_Silent_p.P494P			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	494										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCATCACGCGGGGGGTCGC	0.672													c|||	3	0.000599042	0.0	0.0	5008	,	,		16202	0.0		0.0	False		,,,				2504	0.0031					ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1480-1482)ccG>ccA		BEN domain containing 3							30.0	28.0	28.0					6																	107390913		2202	4298	6500	SO:0001819	synonymous_variant	57673							g.chr6:107390913C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1482G>A	6.37:g.107390913C>T						BEND3_ENST00000369042.1_Silent_p.P494P	p.P494P	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2131	-			494					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1482G>A	CCDS34507.1																																																																																				0.672	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		6	25	0	0	0	1	0	6	25				
C1QA	712	broad.mit.edu	37	1	22965517	22965517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965517G>A	ENST00000374642.3	+	3	559	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	C1QA_ENST00000402322.1_Missense_Mutation_p.A119T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	119	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTCTCCGCCATTCGGCG	0.637																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(355-357)Gcc>Acc		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						24.0	29.0	27.0					1																	22965517		2203	4300	6503	SO:0001583	missense	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965517G>A	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.355G>A	1.37:g.22965517G>A	ENSP00000363773:p.Ala119Thr					C1QA_ENST00000402322.1_Missense_Mutation_p.A119T	p.A119T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	559	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	119			C1q.		B2R4X2|Q5T963	Missense_Mutation	SNP	ENST00000374642.3	37	c.355G>A	CCDS226.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295320	0.60086	.	.	ENSG00000173372	ENST00000374642;ENST00000339353;ENST00000438241;ENST00000402322	T;T;T	0.30182	1.54;1.54;1.54	5.48	5.48	0.80851	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.409870	0.18018	N	0.154332	T	0.64549	0.2608	M	0.89658	3.05	0.39421	D	0.966917	D	0.89917	1.0	D	0.73708	0.981	T	0.71241	-0.4651	10	0.56958	D	0.05	-1.9025	17.9228	0.88972	0.0:0.0:1.0:0.0	.	119	P02745	C1QA_HUMAN	T	119;115;119;119	ENSP00000363773:A119T;ENSP00000416841:A119T;ENSP00000385564:A119T	ENSP00000341271:A115T	A	+	1	0	C1QA	22838104	1.000000	0.71417	0.193000	0.23327	0.006000	0.05464	8.784000	0.91818	2.584000	0.87258	0.561000	0.74099	GCC		0.637	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		9	8	0	0	0	1	0	9	8				
ZFP91	80829	broad.mit.edu	37	11	58379786	58379786	+	Missense_Mutation	SNP	G	G	A	rs199553022		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58379786G>A	ENST00000316059.6	+	7	1064	c.893G>A	c.(892-894)cGt>cAt	p.R298H	AP001350.1_ENST00000601906.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R298H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	298					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAAAGTCCACGTTTACCCAAA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18145	0.001		0.0	False		,,,				2504	0.0					ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(892-894)cGt>cAt		ZFP91 zinc finger protein							97.0	91.0	93.0					11																	58379786		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58379786G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.893G>A	11.37:g.58379786G>A	ENSP00000339030:p.Arg298His					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R298H	p.R298H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			7	1064	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	298					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.893G>A	CCDS31553.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	31	5.097735	0.94197	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12039	2.72	5.69	5.69	0.88448	.	0.000000	0.32593	U	0.005890	T	0.22781	0.0550	N	0.14661	0.345	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.05733	-1.0867	10	0.59425	D	0.04	-9.5756	16.7383	0.85453	0.0:0.0:1.0:0.0	.	298;298	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	H	298	ENSP00000339030:R298H	ENSP00000374569:R298H	R	+	2	0	ZFP91	58136362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.660000	0.91121	2.679000	0.91253	0.650000	0.86243	CGT		0.398	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		9	27	0	0	0	1	0	9	27				
DICER1	23405	broad.mit.edu	37	14	95577792	95577792	+	Splice_Site	SNP	G	G	A	rs191755360		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95577792G>A	ENST00000526495.1	-	16	2409	c.2118C>T	c.(2116-2118)ggC>ggT	p.G706G	DICER1_ENST00000527414.1_Splice_Site_p.G706G|DICER1_ENST00000541352.1_Splice_Site_p.G706G|DICER1_ENST00000393063.1_Splice_Site_p.G706G|DICER1_ENST00000343455.3_Splice_Site_p.G706G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	706	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CATCCAGTTCGCCTAACAAAT	0.368			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		19067	0.001		0.0	False		,,,				2504	0.0					ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.e16-1		dicer 1, ribonuclease type III							136.0	123.0	127.0					14																	95577792		2203	4300	6503	SO:0001630	splice_region_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95577792G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2117-1C>T	14.37:g.95577792G>A						DICER1_ENST00000527414.1_Splice_Site_p.G706_splice|DICER1_ENST00000541352.1_Splice_Site_p.G706_splice|DICER1_ENST00000343455.3_Splice_Site_p.G706_splice|DICER1_ENST00000393063.1_Splice_Site_p.G706_splice	p.G706_splice			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	16	2409	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	706			Dicer dsRNA-binding fold.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Splice_Site	SNP	ENST00000526495.1	37	c.2116_splice	CCDS9931.1																																																																																				0.368	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Silent	47	69	0	0	0	1	0	47	69				
ARHGAP44	9912	broad.mit.edu	37	17	12823149	12823149	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12823149G>A	ENST00000379672.5	+	6	764		c.e6+1		ARHGAP44_ENST00000340825.3_Splice_Site|ARHGAP44_ENST00000262444.9_Splice_Site|MIR1269B_ENST00000580405.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44						exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CACGAACCAGGTAGAATCTCT	0.403																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.e6+1		Rho GTPase activating protein 44							107.0	98.0	101.0					17																	12823149		1851	4102	5953	SO:0001630	splice_region_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12823149G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.464+1G>A	17.37:g.12823149G>A						ARHGAP44_ENST00000262444.9_Splice_Site|ARHGAP44_ENST00000340825.3_Splice_Site		NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			6	764	+								A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Splice_Site	SNP	ENST00000379672.5	37		CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164931	0.78339	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6622	0.85244	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP44	12763874	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	7.401000	0.79962	2.545000	0.85829	0.655000	0.94253	.		0.403	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	Intron	6	11	0	0	0	1	0	6	11				
LONP1	9361	broad.mit.edu	37	19	5700881	5700881	+	Silent	SNP	G	G	A	rs376654909		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700881G>A	ENST00000360614.3	-	9	1582	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N	LONP1_ENST00000585374.1_Silent_p.N361N|LONP1_ENST00000593119.1_Silent_p.N411N|LONP1_ENST00000590729.1_Silent_p.N345N|LONP1_ENST00000540670.2_Silent_p.N279N	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGGTTCTCGTTGCTGTACT	0.607																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1423-1425)aaC>aaT		lon peptidase 1, mitochondrial		G		1,4405	2.1+/-5.4	0,1,2202	224.0	155.0	178.0		1425	-8.0	0.0	19		178	0,8600		0,0,4300	no	coding-synonymous	LONP1	NM_004793.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		475/960	5700881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5700881G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1425C>T	19.37:g.5700881G>A						LONP1_ENST00000590729.1_Silent_p.N345N|LONP1_ENST00000585374.1_Silent_p.N361N|LONP1_ENST00000593119.1_Silent_p.N411N|LONP1_ENST00000540670.2_Silent_p.N279N	p.N475N	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			9	1582	-			475						Silent	SNP	ENST00000360614.3	37	c.1425C>T	CCDS12148.1																																																																																				0.607	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		39	70	0	0	0	1	0	39	70				
VCAN	1462	broad.mit.edu	37	5	82836002	82836002	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82836002A>G	ENST00000265077.3	+	8	7745	c.7180A>G	c.(7180-7182)Aca>Gca	p.T2394A	VCAN_ENST00000343200.5_Missense_Mutation_p.T1407A|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2394	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATTAACGAAACAACAACCTC	0.383																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(7180-7182)Aca>Gca		versican							71.0	69.0	70.0					5																	82836002		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836002A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7180A>G	5.37:g.82836002A>G	ENSP00000265077:p.Thr2394Ala					VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1407A	p.T2394A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7745	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2394			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7180A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.177433	0.00312	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.31510	1.49;1.49	5.85	-2.66	0.06077	.	0.725402	0.13283	N	0.399561	T	0.18593	0.0446	L	0.34521	1.04	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.15484	0.013;0.007	T	0.37709	-0.9694	10	0.08599	T	0.76	.	12.5693	0.56328	0.4008:0.0:0.5992:0.0	.	1407;2394	P13611-2;P13611	.;CSPG2_HUMAN	A	2394;1407	ENSP00000265077:T2394A;ENSP00000340062:T1407A	ENSP00000265077:T2394A	T	+	1	0	VCAN	82871758	0.001000	0.12720	0.003000	0.11579	0.072000	0.16883	0.058000	0.14301	-0.320000	0.08640	0.533000	0.62120	ACA		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		11	38	0	0	0	1	0	11	38				
PLEKHM3	389072	broad.mit.edu	37	2	208866313	208866313	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866313C>A	ENST00000427836.2	-	2	540	c.51G>T	c.(49-51)gaG>gaT	p.E17D	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E17D|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.E17D	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	17					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAAGAATTCCTCCGTAACTT	0.498																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(49-51)gaG>gaT		pleckstrin homology domain containing, family M, member 3							130.0	124.0	126.0					2																	208866313		1882	4108	5990	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208866313C>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.51G>T	2.37:g.208866313C>A	ENSP00000417003:p.Glu17Asp					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E17D|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.E17D	p.E17D			Q6ZWE6	PKHM3_HUMAN			2	478	-			17					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.51G>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953879	0.53293	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.87650	-2.15;-2.18;-2.28	5.74	2.95	0.34219	.	0.067373	0.56097	D	0.000024	D	0.87509	0.6195	L	0.32530	0.975	0.40301	D	0.978618	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	D	0.86671	0.1910	10	0.87932	D	0	.	7.3209	0.26528	0.0:0.5808:0.0:0.4192	.	17;17	C9J119;Q6ZWE6	.;PKHM3_HUMAN	D	17	ENSP00000417003:E17D;ENSP00000373899:E17D;ENSP00000400150:E17D	ENSP00000373899:E17D	E	-	3	2	PLEKHM3	208574558	0.992000	0.36948	1.000000	0.80357	0.499000	0.33736	0.114000	0.15520	0.906000	0.36621	0.585000	0.79938	GAG		0.498	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		7	119	1	0	5.18039e-06	1	5.91835e-06	7	119				
TRIM16	10626	broad.mit.edu	37	17	15532148	15532148	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532148G>A	ENST00000578237.1	-	11	2331	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TRIM16_ENST00000336708.7_Silent_p.F492F|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.F362F|TRIM16_ENST00000577886.1_Silent_p.F276F			O95361	TRI16_HUMAN	tripartite motif containing 16	492	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CGAGCCTCCGGAAAGGGCCAG	0.532																																						ENST00000578237.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(1474-1476)ttC>ttT		tripartite motif containing 16							71.0	72.0	71.0					17																	15532148		2203	4300	6503	SO:0001819	synonymous_variant	10626							g.chr17:15532148G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1476C>T	17.37:g.15532148G>A						TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.F362F|TRIM16_ENST00000336708.7_Silent_p.F492F|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Silent_p.F276F	p.F492F						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2331	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	c.1476C>T	CCDS11171.1																																																																																				0.532	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		19	32	0	0	0	1	0	19	32				
MIB1	57534	broad.mit.edu	37	18	19426999	19426999	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19426999G>A	ENST00000261537.6	+	16	2570	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	769					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGAGCATTCGAAATAAGAAG	0.453																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(2305-2307)cGa>cAa		mindbomb E3 ubiquitin protein ligase 1							90.0	81.0	84.0					18																	19426999		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19426999G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2306G>A	18.37:g.19426999G>A	ENSP00000261537:p.Arg769Gln					MIB1_ENST00000578646.1_3'UTR	p.R769Q	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		16	2570	+			769					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2306G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440885	0.63067	.	.	ENSG00000101752	ENST00000261537	T	0.15603	2.41	5.15	5.15	0.70609	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	N	0.14661	0.345	0.80722	D	1	P	0.50369	0.934	P	0.49528	0.614	T	0.06643	-1.0815	10	0.27785	T	0.31	-8.9515	18.6281	0.91349	0.0:0.0:1.0:0.0	.	769	Q86YT6	MIB1_HUMAN	Q	769	ENSP00000261537:R769Q	ENSP00000261537:R769Q	R	+	2	0	MIB1	17680997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.415000	0.81967	0.655000	0.94253	CGA		0.453	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		20	30	0	0	0	1	0	20	30				
GALNT6	11226	broad.mit.edu	37	12	51773181	51773181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51773181C>T	ENST00000543196.2	-	2	590	c.385G>A	c.(385-387)Gag>Aag	p.E129K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E129K|GALNT6_ENST00000603203.1_5'Flank			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	129					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTGGGTCTCCAGGGGGGTC	0.587																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(385-387)Gag>Aag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							74.0	80.0	78.0					12																	51773181		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51773181C>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.385G>A	12.37:g.51773181C>T	ENSP00000444171:p.Glu129Lys					GALNT6_ENST00000356317.3_Missense_Mutation_p.E129K	p.E129K			Q8NCL4	GALT6_HUMAN			2	590	-			129					Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.385G>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953118	0.92660	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.57273	0.41;0.41	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.67213	-0.5727	10	0.54805	T	0.06	.	17.2315	0.86985	0.0:1.0:0.0:0.0	.	129	Q8NCL4	GALT6_HUMAN	K	129;129;110	ENSP00000444171:E129K;ENSP00000348668:E129K	ENSP00000348668:E129K	E	-	1	0	GALNT6	50059448	1.000000	0.71417	0.971000	0.41717	0.848000	0.48234	7.609000	0.82925	2.793000	0.96121	0.655000	0.94253	GAG		0.587	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		37	46	0	0	0	1	0	37	46				
CPSF7	79869	broad.mit.edu	37	11	61196686	61196686	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61196686T>C	ENST00000394888.4	-	2	194	c.22A>G	c.(22-24)Att>Gtt	p.I8V	SDHAF2_ENST00000543265.1_5'Flank|CPSF7_ENST00000448745.1_Missense_Mutation_p.I8V|SDHAF2_ENST00000534878.1_5'Flank|RP11-286N22.8_ENST00000543044.1_5'Flank|CPSF7_ENST00000439958.3_Missense_Mutation_p.I8V|SDHAF2_ENST00000301761.2_5'Flank|SDHAF2_ENST00000537782.1_5'Flank|CPSF7_ENST00000541963.1_Missense_Mutation_p.I8V|CPSF7_ENST00000340437.4_Missense_Mutation_p.I51V|SDHAF2_ENST00000542074.1_5'Flank	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	8					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TATATATCAATCAAGTCCACT	0.478																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(151-153)Att>Gtt		cleavage and polyadenylation specific factor 7, 59kDa							184.0	176.0	179.0					11																	61196686		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61196686T>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.22A>G	11.37:g.61196686T>C	ENSP00000378352:p.Ile8Val					CPSF7_ENST00000448745.1_Missense_Mutation_p.I8V|CPSF7_ENST00000439958.3_Missense_Mutation_p.I8V|CPSF7_ENST00000541963.1_Missense_Mutation_p.I8V|CPSF7_ENST00000394888.4_Missense_Mutation_p.I8V	p.I51V	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			2	231	-			8			Poly-Pro.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.151A>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983191	0.53827	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	.	.	.	5.12	5.12	0.69794	.	0.364905	0.26518	N	0.023928	T	0.45013	0.1321	L	0.42744	1.35	0.41298	D	0.987029	B;B;P;B	0.41041	0.206;0.113;0.736;0.18	B;B;B;B	0.35899	0.071;0.036;0.213;0.047	T	0.53187	-0.8474	9	0.66056	D	0.02	.	14.7451	0.69485	0.0:0.0:0.0:1.0	.	8;8;51;8	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	V	51;8;8;8;8;8;8;8;8;8;8;8	.	ENSP00000345412:I51V	I	-	1	0	CPSF7	60953262	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.947000	0.63583	2.150000	0.67090	0.460000	0.39030	ATT		0.478	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		70	85	0	0	0	1	0	70	85				
C5AR2	27202	broad.mit.edu	37	19	47844828	47844828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47844828G>A	ENST00000595464.1	+	2	990	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	C5AR2_ENST00000257267.2_Missense_Mutation_p.V258M|C5AR2_ENST00000600626.1_Missense_Mutation_p.V258M	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	258					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GGTGCTCACTGTGGCGGCCCC	0.677																																						ENST00000595464.1																			0											c.(772-774)Gtg>Atg		complement component 5a receptor 2							31.0	36.0	34.0					19																	47844828		2200	4293	6493	SO:0001583	missense	27202							g.chr19:47844828G>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.772G>A	19.37:g.47844828G>A	ENSP00000472620:p.Val258Met					C5AR2_ENST00000600626.1_Missense_Mutation_p.V258M|C5AR2_ENST00000257267.2_Missense_Mutation_p.V258M	p.V258M	NM_001271749.1	NP_001258678.1					2	990	+								B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.772G>A	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	9.654	1.142434	0.21205	.	.	ENSG00000134830	ENST00000257267	T	0.38560	1.13	3.96	-4.39	0.03611	GPCR, rhodopsin-like superfamily (1);	1.671400	0.03573	N	0.228939	T	0.27241	0.0668	L	0.36672	1.1	0.09310	N	1	B	0.31351	0.32	B	0.27500	0.08	T	0.09618	-1.0666	10	0.32370	T	0.25	.	3.5156	0.07723	0.3495:0.0:0.2495:0.4011	.	258	Q9P296	C5ARL_HUMAN	M	258	ENSP00000257267:V258M	ENSP00000257267:V258M	V	+	1	0	GPR77	52536668	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-1.022000	0.03611	-0.826000	0.04284	0.313000	0.20887	GTG		0.677	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		25	28	0	0	0	1	0	25	28				
ZNF324	25799	broad.mit.edu	37	19	58983118	58983118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983118C>T	ENST00000536459.2	+	4	1968	c.1259C>T	c.(1258-1260)aCa>aTa	p.T420I	ZNF324_ENST00000535298.1_Missense_Mutation_p.T197I|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.T420I			O75467	Z324A_HUMAN	zinc finger protein 324	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGTGCACACAGGCGAGAAG	0.672																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1258-1260)aCa>aTa		zinc finger protein 324							41.0	41.0	41.0					19																	58983118		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983118C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1259C>T	19.37:g.58983118C>T	ENSP00000444812:p.Thr420Ile					ZNF324_ENST00000535298.1_Missense_Mutation_p.T197I|ZNF324_ENST00000196482.3_Missense_Mutation_p.T420I	p.T420I			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1968	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	420					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1259C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016220	0.54468	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.25749	1.78;1.78;1.78	3.84	3.84	0.44239	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000604	T	0.44787	0.1310	L	0.55743	1.74	0.38108	D	0.937467	D	0.89917	1.0	D	0.80764	0.994	T	0.50750	-0.8791	10	0.72032	D	0.01	.	14.0557	0.64767	0.0:1.0:0.0:0.0	.	420	O75467	Z324A_HUMAN	I	420;420;410;197	ENSP00000196482:T420I;ENSP00000444812:T420I;ENSP00000439588:T197I	ENSP00000196482:T420I	T	+	2	0	ZNF324	63674930	0.996000	0.38824	0.952000	0.39060	0.409000	0.31022	3.459000	0.53021	2.433000	0.82419	0.400000	0.26472	ACA		0.672	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		4	37	0	0	0	1	0	4	37				
ACTL8	81569	broad.mit.edu	37	1	18149677	18149677	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18149677C>T	ENST00000375406.1	+	2	390	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	58					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TCGACATTTGCCATCCTGACA	0.582																																						ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(172-174)tgC>tgT		actin-like 8							136.0	122.0	126.0					1																	18149677		2203	4300	6503	SO:0001819	synonymous_variant	81569					cytoplasm|cytoskeleton		g.chr1:18149677C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.174C>T	1.37:g.18149677C>T							p.C58C	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	390	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	58					Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	c.174C>T	CCDS183.1																																																																																				0.582	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		26	57	0	0	0	1	0	26	57				
GCM2	9247	broad.mit.edu	37	6	10876185	10876185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10876185G>A	ENST00000379491.4	-	4	668	c.521C>T	c.(520-522)gCc>gTc	p.A174V	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	174					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTCTTGATGGCGCTTCTTCT	0.463																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(520-522)gCc>gTc		glial cells missing homolog 2 (Drosophila)							218.0	179.0	192.0					6																	10876185		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10876185G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.521C>T	6.37:g.10876185G>A	ENSP00000368805:p.Ala174Val					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.A174V	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			4	668	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	174					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.521C>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286913	0.95517	.	.	ENSG00000124827	ENST00000379491	T	0.72394	-0.65	5.67	4.8	0.61643	.	0.049826	0.85682	D	0.000000	T	0.72028	0.3410	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.74429	-0.3668	10	0.46703	T	0.11	-9.0429	14.4619	0.67456	0.0701:0.0:0.9299:0.0	.	174	O75603	GCM2_HUMAN	V	174	ENSP00000368805:A174V	ENSP00000368805:A174V	A	-	2	0	GCM2	10984171	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	9.576000	0.98192	1.402000	0.46780	0.655000	0.94253	GCC		0.463	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			45	71	0	0	0	1	0	45	71				
ZNF324B	388569	broad.mit.edu	37	19	58967882	58967882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967882G>A	ENST00000336614.4	+	4	1678	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	ZNF324B_ENST00000391696.1_Missense_Mutation_p.G514E|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G524E	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCCTTCAGGGACATCATCGG	0.632																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1540-1542)gGa>gAa		zinc finger protein 324B							57.0	70.0	65.0					19																	58967882		2203	4299	6502	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967882G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1571G>A	19.37:g.58967882G>A	ENSP00000337473:p.Gly524Glu					ZNF324B_ENST00000336614.4_Missense_Mutation_p.G524E|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G524E	p.G514E			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	2473	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	524					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1541G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767294	0.31320	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.06371	3.51;3.51;3.31	2.16	-1.47	0.08772	.	0.438076	0.16604	N	0.207231	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.08055	0.0;0.003	T	0.41928	-0.9481	10	0.25106	T	0.35	.	3.4991	0.07666	0.263:0.0:0.5397:0.1973	.	524;514	Q6AW86;C9JTQ8	Z324B_HUMAN;.	E	524;524;514	ENSP00000337473:G524E;ENSP00000438930:G524E;ENSP00000375578:G514E	ENSP00000337473:G524E	G	+	2	0	ZNF324B	63659694	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.206000	0.09398	-0.252000	0.09528	-0.470000	0.05040	GGA		0.632	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		22	35	0	0	0	1	0	22	35				
CUEDC2	79004	broad.mit.edu	37	10	104184302	104184302	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104184302G>A	ENST00000369937.4	-	4	379	c.234C>T	c.(232-234)gaC>gaT	p.D78D	CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	78						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTGCATCATGTCCCCTATTG	0.582																																						ENST00000369937.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(232-234)gaC>gaT		CUE domain containing 2							127.0	133.0	131.0					10																	104184302		2057	4211	6268	SO:0001819	synonymous_variant	79004					cytoplasm|nucleus	protein binding	g.chr10:104184302G>A	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.234C>T	10.37:g.104184302G>A							p.D78D	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	4	379	-		Colorectal(252;0.122)	78					D3DR88|Q9BWG8	Silent	SNP	ENST00000369937.4	37	c.234C>T	CCDS41566.1																																																																																				0.582	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		49	82	0	0	0	1	0	49	82				
ALG6	29929	broad.mit.edu	37	1	63870168	63870168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63870168G>A	ENST00000371108.4	+	5	607	c.302G>A	c.(301-303)cGt>cAt	p.R101H	ALG6_ENST00000263440.4_Missense_Mutation_p.R101H	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	101					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATACATCACGTGGATATGAG	0.348																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(301-303)cGt>cAt		ALG6, alpha-1,3-glucosyltransferase							107.0	108.0	108.0					1																	63870168		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63870168G>A	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.302G>A	1.37:g.63870168G>A	ENSP00000360149:p.Arg101His					ALG6_ENST00000263440.4_Missense_Mutation_p.R101H	p.R101H	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			5	607	+			101					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.302G>A	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158314	0.78114	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.84873	-1.91;-1.91	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	M	0.76574	2.34	0.80722	D	1	B	0.33413	0.411	B	0.33690	0.168	T	0.74112	-0.3770	10	0.27082	T	0.32	-14.129	11.3281	0.49460	0.1471:0.0:0.8529:0.0	.	101	A2A2G4	.	H	101	ENSP00000360149:R101H;ENSP00000263440:R101H	ENSP00000263440:R101H	R	+	2	0	ALG6	63642756	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	3.489000	0.53237	1.229000	0.43630	0.557000	0.71058	CGT		0.348	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		7	88	0	0	0	1	0	7	88				
AGT	183	broad.mit.edu	37	1	230846149	230846149	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230846149C>A	ENST00000366667.4	-	2	662	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	150					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGTCCAAGGCTCCCAGATAG	0.592																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(448-450)Gcc>Tcc		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						88.0	84.0	85.0					1																	230846149		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846149C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.448G>T	1.37:g.230846149C>A	ENSP00000355627:p.Ala150Ser						p.A150S	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	662	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	150					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.448G>T	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289129	0.40494	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.91068	-2.78	4.87	3.86	0.44501	Serpin domain (3);	0.057971	0.64402	N	0.000002	D	0.91240	0.7239	L	0.31120	0.905	0.40943	D	0.984488	P;D;P	0.57571	0.883;0.98;0.883	P;D;P	0.71870	0.821;0.975;0.821	D	0.90031	0.4135	10	0.34782	T	0.22	.	13.8759	0.63653	0.1947:0.8053:0.0:0.0	.	150;150;150	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	S	150	ENSP00000355627:A150S	ENSP00000355627:A150S	A	-	1	0	AGT	228912772	0.966000	0.33281	0.114000	0.21550	0.304000	0.27724	2.403000	0.44530	0.944000	0.37579	0.491000	0.48974	GCC		0.592	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		52	60	1	0	3.76997e-23	1	4.98813e-23	52	60				
TTN	7273	broad.mit.edu	37	2	179577432	179577432	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179577432T>C	ENST00000591111.1	-	92	26593	c.26369A>G	c.(26368-26370)tAc>tGc	p.Y8790C	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y7863C|TTN_ENST00000589042.1_Missense_Mutation_p.Y9107C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12940	Ig-like 70.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTTATGTAGAGATGTGT	0.338																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27319-27321)tAc>tGc		titin							90.0	87.0	88.0					2																	179577432		1865	4099	5964	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577432T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26369A>G	2.37:g.179577432T>C	ENSP00000465570:p.Tyr8790Cys					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Y7863C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y8790C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.Y9107C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	27544	-			8790			Ig-like 74.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.27320A>G		.	.	.	.	.	.	.	.	.	.	T	8.056	0.767120	0.15983	.	.	ENSG00000155657	ENST00000342992	T	0.66815	-0.23	5.48	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58821	0.2149	L	0.38175	1.15	0.80722	D	1	P	0.44195	0.828	P	0.46543	0.52	T	0.57039	-0.7879	9	0.87932	D	0	.	6.3742	0.21499	0.521:0.0:0.1069:0.3721	.	8790	Q8WZ42	TITIN_HUMAN	C	7863	ENSP00000343764:Y7863C	ENSP00000343764:Y7863C	Y	-	2	0	TTN	179285677	0.219000	0.23619	0.229000	0.23960	0.967000	0.64934	1.683000	0.37638	0.407000	0.25591	0.533000	0.62120	TAC		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	44	0	0	0	1	0	31	44				
ATG2B	55102	broad.mit.edu	37	14	96795843	96795843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96795843G>T	ENST00000359933.4	-	12	2752	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	620					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGAGGAACAGAATGAAAATC	0.313																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1858-1860)tCt>tAt		autophagy related 2B							103.0	98.0	100.0					14																	96795843		1810	4073	5883	SO:0001583	missense	55102							g.chr14:96795843G>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1859C>A	14.37:g.96795843G>T	ENSP00000353010:p.Ser620Tyr						p.S620Y	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	12	2752	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	620					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.1859C>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238561	0.58886	.	.	ENSG00000066739	ENST00000359933	T	0.11604	2.76	5.62	4.71	0.59529	.	0.478112	0.19499	U	0.112797	T	0.14485	0.0350	L	0.57536	1.79	0.47547	D	0.999455	P	0.43169	0.8	B	0.37833	0.259	T	0.02705	-1.1121	10	0.72032	D	0.01	.	16.2837	0.82709	0.0:0.1331:0.8669:0.0	.	620	Q96BY7	ATG2B_HUMAN	Y	620	ENSP00000353010:S620Y	ENSP00000353010:S620Y	S	-	2	0	ATG2B	95865596	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	4.528000	0.60580	1.466000	0.48025	0.591000	0.81541	TCT		0.313	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		7	70	1	0	0.00198382	1	0.00210581	7	70				
ASPA	443	broad.mit.edu	37	17	3379573	3379573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3379573G>T	ENST00000263080.2	+	1	278	c.120G>T	c.(118-120)gaG>gaT	p.E40D	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E40D	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	40					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	ATGGCGCTGAGATTCAGAGAA	0.428																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(118-120)gaG>gaT		aspartoacylase	L-Aspartic Acid(DB00128)						149.0	145.0	146.0					17																	3379573		2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3379573G>T	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.120G>T	17.37:g.3379573G>T	ENSP00000263080:p.Glu40Asp					SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E40D	p.E40D	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			1	278	+			40						Missense_Mutation	SNP	ENST00000263080.2	37	c.120G>T	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	g	18.87	3.715778	0.68844	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97906	-4.6;-4.6	5.34	1.63	0.23807	.	0.048805	0.85682	D	0.000000	D	0.96682	0.8917	L	0.56769	1.78	0.80722	D	1	D	0.58620	0.983	P	0.55577	0.779	D	0.93701	0.7015	10	0.19590	T	0.45	-20.9017	8.3712	0.32417	0.317:0.0:0.683:0.0	.	40	P45381	ACY2_HUMAN	D	40	ENSP00000409976:E40D;ENSP00000263080:E40D	ENSP00000263080:E40D	E	+	3	2	ASPA	3326323	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.694000	0.47035	0.464000	0.27142	-0.244000	0.11960	GAG		0.428	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		59	98	1	0	1.27334e-21	1	1.67702e-21	59	98				
METTL17	64745	broad.mit.edu	37	14	21463327	21463327	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21463327C>T	ENST00000339374.6	+	10	1113	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	METTL17_ENST00000382985.4_Silent_p.L294L|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.L294L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	294					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGAACAGGTACTGGTGGAGAA	0.463																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(880-882)Ctg>Ttg		methyltransferase like 17							202.0	183.0	190.0					14																	21463327		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21463327C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.880C>T	14.37:g.21463327C>T						METTL17_ENST00000556670.2_Silent_p.L294L|METTL17_ENST00000382985.4_Silent_p.L294L	p.L294L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			10	1113	+			294					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.880C>T	CCDS9562.1																																																																																				0.463	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		51	86	0	0	0	1	0	51	86				
CHD2	1106	broad.mit.edu	37	15	93467605	93467605	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93467605T>C	ENST00000394196.4	+	3	1185	c.117T>C	c.(115-117)agT>agC	p.S39S	CHD2_ENST00000420239.2_Silent_p.S39S|CHD2_ENST00000557381.1_Silent_p.S39S|CHD2_ENST00000536619.1_Silent_p.S52S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	39	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTCGGAAAGTGAGCAGGGAA	0.468																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(115-117)agT>agC		chromodomain helicase DNA binding protein 2							100.0	100.0	100.0					15																	93467605		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93467605T>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.117T>C	15.37:g.93467605T>C						CHD2_ENST00000420239.2_Silent_p.S39S|CHD2_ENST00000536619.1_Silent_p.S52S|CHD2_ENST00000557381.1_Silent_p.S39S	p.S39S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		3	1185	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		39			Ser-rich.		C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.117T>C	CCDS10374.2																																																																																				0.468	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		12	85	0	0	0	1	0	12	85				
CDKL4	344387	broad.mit.edu	37	2	39440589	39440589	+	Silent	SNP	G	G	A	rs140286102		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440589G>A	ENST00000395035.3	-	3	314	c.315C>T	c.(313-315)agC>agT	p.S105S	CDKL4_ENST00000378803.1_Silent_p.S105S			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GCCATAATACGCTTTTGATCA	0.343																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(313-315)agC>agT		cyclin-dependent kinase-like 4							79.0	87.0	84.0					2																	39440589		2203	4300	6503	SO:0001819	synonymous_variant	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39440589G>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.315C>T	2.37:g.39440589G>A						CDKL4_ENST00000395035.3_Silent_p.S105S	p.S105S	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			3	314	-		all_hematologic(82;0.248)	105			Protein kinase.		Q2NME9	Silent	SNP	ENST00000395035.3	37	c.315C>T																																																																																					0.343	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		26	43	0	0	0	1	0	26	43				
METTL18	92342	broad.mit.edu	37	1	169762769	169762769	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169762769C>T	ENST00000310392.4	-	2	421	c.68G>A	c.(67-69)gGa>gAa	p.G23E	C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000359326.4_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.G23E	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	23						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						GGTCAAAGCTCCATCTCTAAT	0.373																																						ENST00000310392.4																			0				kidney(1)|large_intestine(3)|lung(4)	8						c.(67-69)gGa>gAa		methyltransferase like 18							90.0	91.0	91.0					1																	169762769		2203	4300	6503	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762769C>T	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.68G>A	1.37:g.169762769C>T	ENSP00000307975:p.Gly23Glu					C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.G23E	p.G23E	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN			2	421	-			23					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.68G>A	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	5.242	0.230156	0.09969	.	.	ENSG00000171806	ENST00000310392;ENST00000303469;ENST00000454472	T;T;T	0.44083	2.55;2.55;0.93	5.66	3.51	0.40186	.	0.572030	0.15439	N	0.262271	T	0.12944	0.0314	L	0.55103	1.725	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24941	-1.0146	10	0.19590	T	0.45	.	2.6841	0.05102	0.0:0.4115:0.2539:0.3346	.	23	O95568	MET18_HUMAN	E	23	ENSP00000307975:G23E;ENSP00000307077:G23E;ENSP00000402305:G23E	ENSP00000307077:G23E	G	-	2	0	METTL18	168029393	0.018000	0.18449	0.045000	0.18777	0.621000	0.37620	0.385000	0.20685	0.670000	0.31165	0.561000	0.74099	GGA		0.373	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		52	50	0	0	0	1	0	52	50				
ZHX2	22882	broad.mit.edu	37	8	123964116	123964116	+	Silent	SNP	C	C	T	rs139940405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:123964116C>T	ENST00000314393.4	+	3	1201	c.366C>T	c.(364-366)taC>taT	p.Y122Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	122					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAAAAAGTACGACTCCCTAT	0.478													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22069	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(364-366)taC>taT		zinc fingers and homeoboxes 2		C		9,4397	15.5+/-35.6	0,9,2194	101.0	90.0	94.0		366	0.6	1.0	8	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	ZHX2	NM_014943.3		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		122/838	123964116	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964116C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.366C>T	8.37:g.123964116C>T							p.Y122Y	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1201	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		122						Silent	SNP	ENST00000314393.4	37	c.366C>T	CCDS6336.1																																																																																				0.478	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		15	39	0	0	0	1	0	15	39				
ESPNP	284729	broad.mit.edu	37	1	17017756	17017756	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17017756C>T	ENST00000492551.1	-	0	1971					NR_026567.1				espin pseudogene																		CACCTCCAGGCGGGCATGCTG	0.662																																						ENST00000492551.1																			0																																																			0							g.chr1:17017756C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017756C>T								NR_026567.1						0	1971	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.662	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	14	0	0	0	1	0	5	14				
ICA1	3382	broad.mit.edu	37	7	8261009	8261009	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8261009G>A	ENST00000402384.3	-	5	542	c.276C>T	c.(274-276)aaC>aaT	p.N92N	ICA1_ENST00000265577.7_Silent_p.N91N|ICA1_ENST00000406470.2_Silent_p.N92N|ICA1_ENST00000476942.1_5'Flank|ICA1_ENST00000401396.1_Silent_p.N80N|ICA1_ENST00000422063.2_Silent_p.N92N|ICA1_ENST00000407906.1_Silent_p.N92N|ICA1_ENST00000396675.3_Silent_p.N92N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	92	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCCCAGTTCGTTTTCTTCTT	0.423																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(274-276)aaC>aaT		islet cell autoantigen 1, 69kDa							86.0	82.0	83.0					7																	8261009		2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8261009G>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.276C>T	7.37:g.8261009G>A						ICA1_ENST00000407906.1_Silent_p.N92N|ICA1_ENST00000265577.7_Silent_p.N91N|ICA1_ENST00000401396.1_Silent_p.N80N|ICA1_ENST00000406470.2_Silent_p.N92N|ICA1_ENST00000422063.2_Silent_p.N92N|ICA1_ENST00000396675.3_Silent_p.N92N	p.N92N			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	5	542	-		Ovarian(82;0.0612)	92			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.276C>T	CCDS34602.1																																																																																				0.423	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		15	78	0	0	0	1	0	15	78				
MDN1	23195	broad.mit.edu	37	6	90394655	90394655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90394655G>T	ENST00000369393.3	-	71	11884	c.11769C>A	c.(11767-11769)ttC>ttA	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(11767-11769)ttC>ttA		MDN1, midasin homolog (yeast)							56.0	59.0	58.0					6																	90394655		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90394655G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11769C>A	6.37:g.90394655G>T	ENSP00000358400:p.Phe3923Leu					MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L	p.F3923L			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	71	11884	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3923					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.11769C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178668	0.57692	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.56941	0.43;0.43	5.89	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.84433	2.695	0.45914	D	0.998751	D	0.69078	0.997	D	0.75020	0.985	T	0.71846	-0.4469	10	0.72032	D	0.01	.	9.0164	0.36173	0.2127:0.0:0.7873:0.0	.	3923	Q9NU22	MDN1_HUMAN	L	3923	ENSP00000358400:F3923L;ENSP00000413970:F3923L	ENSP00000358400:F3923L	F	-	3	2	MDN1	90451376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.704000	0.47118	1.463000	0.47967	0.655000	0.94253	TTC		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			19	22	1	0	1.01871e-10	1	1.25892e-10	19	22				
ZNF592	9640	broad.mit.edu	37	15	85342424	85342424	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85342424G>T	ENST00000560079.2	+	9	3408	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	ZNF592_ENST00000299927.3_Missense_Mutation_p.K1040N	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1040					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACACAGTAAAGAAGTTCTACA	0.547																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3118-3120)aaG>aaT		zinc finger protein 592							197.0	179.0	185.0					15																	85342424		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85342424G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3120G>T	15.37:g.85342424G>T	ENSP00000452877:p.Lys1040Asn					ZNF592_ENST00000560079.2_Missense_Mutation_p.K1040N	p.K1040N			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3142	+			1040					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3120G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690595	0.68271	.	.	ENSG00000166716	ENST00000299927	T	0.00651	5.97	5.33	5.33	0.75918	Zinc finger, C2H2 (1);	0.154694	0.56097	D	0.000028	T	0.01730	0.0055	L	0.39245	1.2	0.37410	D	0.913193	D	0.76494	0.999	D	0.66351	0.943	T	0.65228	-0.6219	10	0.72032	D	0.01	-24.9954	10.0391	0.42146	0.0916:0.0:0.9084:0.0	.	1040	Q92610	ZN592_HUMAN	N	1040	ENSP00000299927:K1040N	ENSP00000299927:K1040N	K	+	3	2	ZNF592	83143428	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.283000	0.51701	2.479000	0.83701	0.655000	0.94253	AAG		0.547	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		18	96	1	0	4.81078e-24	1	6.37752e-24	18	96				
TPO	7173	broad.mit.edu	37	2	1499859	1499859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1499859C>T	ENST00000345913.4	+	12	2196	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.T702I|TPO_ENST00000329066.4_Missense_Mutation_p.T702I|TPO_ENST00000349624.3_Missense_Mutation_p.T529I|TPO_ENST00000382201.3_Missense_Mutation_p.T645I|TPO_ENST00000337415.3_Missense_Mutation_p.T702I|TPO_ENST00000382198.1_Missense_Mutation_p.T529I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	702					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTGGCCTCACCAGGGTGCCC	0.567																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2104-2106)aCc>aTc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						71.0	64.0	66.0					2																	1499859		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499859C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2105C>T	2.37:g.1499859C>T	ENSP00000318820:p.Thr702Ile					TPO_ENST00000329066.4_Missense_Mutation_p.T702I|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.T702I|TPO_ENST00000349624.3_Missense_Mutation_p.T529I|TPO_ENST00000382201.3_Missense_Mutation_p.T645I|TPO_ENST00000337415.3_Missense_Mutation_p.T702I|TPO_ENST00000382198.1_Missense_Mutation_p.T529I	p.T702I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2196	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	702					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2105C>T	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.53|11.53	1.666491|1.666491	0.29604|0.29604	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.70164	.|-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.52|4.52	2.47|2.47	0.30058|0.30058	.|.	.|0.956518	.|0.08825	.|N	.|0.888145	T|T	0.74627|0.74627	0.3741|0.3741	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|P;P;P;D	.|0.56968	.|0.941;0.791;0.941;0.978	.|P;B;P;P	.|0.57846	.|0.735;0.186;0.735;0.828	T|T	0.61327|0.61327	-0.7085|-0.7085	5|10	.|0.72032	.|D	.|0.01	-21.963|-21.963	10.4376|10.4376	0.44445|0.44445	0.1508:0.7035:0.1456:0.0|0.1508:0.7035:0.1456:0.0	.|.	.|702;529;645;702	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	S|I	177|702;702;702;529;702;645;529;631;176	.|ENSP00000337263:T702I;ENSP00000318820:T702I;ENSP00000263886:T702I;ENSP00000332044:T529I;ENSP00000329869:T702I;ENSP00000371636:T645I;ENSP00000371633:T529I;ENSP00000405788:T631I;ENSP00000419461:T176I	.|ENSP00000329869:T702I	P|T	+|+	1|2	0|0	TPO|TPO	1478866|1478866	0.000000|0.000000	0.05858|0.05858	0.395000|0.395000	0.26283|0.26283	0.233000|0.233000	0.25261|0.25261	0.241000|0.241000	0.18065|0.18065	0.975000|0.975000	0.38392|0.38392	0.561000|0.561000	0.74099|0.74099	CCA|ACC		0.567	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		4	37	0	0	0	1	0	4	37				
CHIAP2	149620	broad.mit.edu	37	1	111825270	111825270	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111825270A>G	ENST00000369743.4	+	0	1059					NR_003928.1				chitinase, acidic pseudogene 2																		CGCCAGTATGAGTTTGACGGG	0.527																																						ENST00000369743.4																			0																																																			0							g.chr1:111825270A>G			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111825270A>G								NR_003928.1						0	1059	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.527	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			4	60	0	0	0	1	0	4	60				
EDIL3	10085	broad.mit.edu	37	5	83433159	83433159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83433159G>A	ENST00000296591.5	-	5	787	c.369C>T	c.(367-369)tgC>tgT	p.C123C	EDIL3_ENST00000380138.3_Silent_p.C113C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	123	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTCAACTTCGCATTCATTTA	0.333																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(367-369)tgC>tgT		EGF-like repeats and discoidin I-like domains 3							153.0	138.0	143.0					5																	83433159		2203	4300	6503	SO:0001819	synonymous_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83433159G>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.369C>T	5.37:g.83433159G>A						EDIL3_ENST00000380138.3_Silent_p.C113C	p.C123C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	5	787	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	123			EGF-like 3.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.369C>T	CCDS4062.1																																																																																				0.333	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		31	47	0	0	0	1	0	31	47				
AQP5	362	broad.mit.edu	37	12	50355889	50355889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50355889G>A	ENST00000293599.6	+	1	237	c.89G>A	c.(88-90)gGc>gAc	p.G30D	RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TTTGGCCTGGGCTCGGCCCTC	0.662																																						ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(88-90)gGc>gAc		aquaporin 5							62.0	44.0	50.0					12																	50355889		2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50355889G>A	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.89G>A	12.37:g.50355889G>A	ENSP00000293599:p.Gly30Asp					RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	p.G30D	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN			1	237	+			30					Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.89G>A	CCDS8793.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776263	0.70107	.	.	ENSG00000161798	ENST00000293599	D	0.94931	-3.56	3.76	1.92	0.25849	Aquaporin-like (2);	0.100406	0.42420	N	0.000712	D	0.98213	0.9409	H	0.99634	4.67	0.53005	D	0.99996	D	0.65815	0.995	D	0.75020	0.985	D	0.96092	0.9062	10	0.87932	D	0	-9.1844	7.715	0.28700	0.2149:0.0:0.7851:0.0	.	30	P55064	AQP5_HUMAN	D	30	ENSP00000293599:G30D	ENSP00000293599:G30D	G	+	2	0	AQP5	48642156	1.000000	0.71417	0.455000	0.27031	0.807000	0.45602	3.260000	0.51523	0.393000	0.25203	0.462000	0.41574	GGC		0.662	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		10	15	0	0	0	1	0	10	15				
DDX21	9188	broad.mit.edu	37	10	70738645	70738645	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70738645T>C	ENST00000354185.4	+	13	2048	c.1950T>C	c.(1948-1950)atT>atC	p.I650I		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	650					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCCAAATATTAGTTATGCTT	0.383																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1948-1950)atT>atC		DEAD (Asp-Glu-Ala-Asp) box helicase 21							106.0	109.0	108.0					10																	70738645		2203	4300	6503	SO:0001819	synonymous_variant	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70738645T>C	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1950T>C	10.37:g.70738645T>C							p.I650I	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			13	2048	+			650					B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	ENST00000354185.4	37	c.1950T>C	CCDS31211.1																																																																																				0.383	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		11	86	0	0	0	1	0	11	86				
CATSPERD	257062	broad.mit.edu	37	19	5778417	5778417	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5778417C>A	ENST00000381624.3	+	22	2188	c.2127C>A	c.(2125-2127)atC>atA	p.I709I	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	709					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCTTTAGCATCTACGTGTATG	0.572																																						ENST00000381624.3																			0											c.(2125-2127)atC>atA		catsper channel auxiliary subunit delta							70.0	74.0	73.0					19																	5778417		2068	4185	6253	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5778417C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2127C>A	19.37:g.5778417C>A						CATSPERD_ENST00000309164.7_3'UTR	p.I709I	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			22	2188	+			709					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.2127C>A	CCDS12149.2																																																																																				0.572	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		6	53	1	0	0.0381472	1	0.0390147	6	53				
GPAM	57678	broad.mit.edu	37	10	113932026	113932026	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:113932026A>G	ENST00000348367.4	-	9	905	c.708T>C	c.(706-708)taT>taC	p.Y236Y	GPAM_ENST00000369425.1_Silent_p.Y236Y|GPAM_ENST00000423155.1_Silent_p.Y236Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	236					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGAGCAGCAGATAGTCAATAT	0.373																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(706-708)taT>taC		glycerol-3-phosphate acyltransferase, mitochondrial							122.0	118.0	119.0					10																	113932026		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113932026A>G	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.708T>C	10.37:g.113932026A>G						GPAM_ENST00000369425.1_Silent_p.Y236Y|GPAM_ENST00000423155.1_Silent_p.Y236Y	p.Y236Y			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	9	905	-			236					Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.708T>C	CCDS7570.1																																																																																				0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		23	41	0	0	0	1	0	23	41				
LAMA3	3909	broad.mit.edu	37	18	21508203	21508203	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21508203A>G	ENST00000313654.9	+	63	8535	c.8294A>G	c.(8293-8295)aAg>aGg	p.K2765R	LAMA3_ENST00000399516.3_Splice_Site_p.K2709R|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.K1100R|LAMA3_ENST00000269217.6_Splice_Site_p.K1156R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2765					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAAGACTGGAAGGTAAGTGAA	0.453																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.e63+1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72.0	72.0	72.0					18																	21508203		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21508203A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8295+1A>G	18.37:g.21508203A>G						LAMA3_ENST00000399516.3_Splice_Site_p.K2709_splice|LAMA3_ENST00000587184.1_Splice_Site_p.K1100_splice|LAMA3_ENST00000269217.6_Splice_Site_p.K1156_splice|LAMA3_ENST00000588770.1_3'UTR	p.K2765_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			63	8535	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2765					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37	c.8295_splice	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810018	0.50421	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.17213	2.29;2.29;2.29	5.53	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);	.	.	.	.	T	0.15869	0.0382	L	0.51422	1.61	0.32365	N	0.556615	D;P;P;P	0.58268	0.982;0.926;0.757;0.908	P;P;B;P	0.46585	0.505;0.448;0.367;0.521	T	0.10660	-1.0620	9	0.09338	T	0.73	.	7.2496	0.26142	0.7033:0.1519:0.0:0.1448	.	1100;1156;2709;2765	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	2765;2709;1156	ENSP00000324532:K2765R;ENSP00000382432:K2709R;ENSP00000269217:K1156R	ENSP00000269217:K1156R	K	+	2	0	LAMA3	19762201	1.000000	0.71417	0.999000	0.59377	0.681000	0.39784	3.400000	0.52594	0.439000	0.26476	0.460000	0.39030	AAG		0.453	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	3	24	0	0	0	1	0	3	24				
ABCB9	23457	broad.mit.edu	37	12	123428988	123428988	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123428988T>C	ENST00000542678.1	-	7	4168	c.1330A>G	c.(1330-1332)Aac>Gac	p.N444D	ABCB9_ENST00000280560.8_Missense_Mutation_p.N444D|ABCB9_ENST00000346530.5_Intron|ABCB9_ENST00000540285.1_Missense_Mutation_p.N444D|ABCB9_ENST00000442028.2_Missense_Mutation_p.N444D|ABCB9_ENST00000392439.3_Missense_Mutation_p.N444D|ABCB9_ENST00000344275.7_Missense_Mutation_p.N444D|ABCB9_ENST00000442833.2_Missense_Mutation_p.N444D|ABCB9_ENST00000541983.1_5'UTR			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	444	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCGATGAGGTTGCCGCTGGTC	0.587																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1330-1332)Aac>Gac		ATP-binding cassette, sub-family B (MDR/TAP), member 9							172.0	147.0	156.0					12																	123428988		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123428988T>C	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1330A>G	12.37:g.123428988T>C	ENSP00000440288:p.Asn444Asp					ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000392439.3_Missense_Mutation_p.N444D|ABCB9_ENST00000540285.1_Missense_Mutation_p.N444D|ABCB9_ENST00000442028.2_Missense_Mutation_p.N444D|ABCB9_ENST00000344275.7_Missense_Mutation_p.N444D|ABCB9_ENST00000280560.8_Missense_Mutation_p.N444D|ABCB9_ENST00000346530.5_Intron|ABCB9_ENST00000442833.2_Missense_Mutation_p.N444D	p.N444D			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	7	4168	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		444			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1330A>G	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851370	0.51270	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448;ENST00000545373;ENST00000540971;ENST00000536976;ENST00000546077	D;D;D;D;D;D;D;T;D;D;D	0.90844	-2.52;-2.52;-2.52;-2.52;-2.52;-2.74;-2.52;-1.21;-2.52;-2.52;-2.52	5.36	4.22	0.49857	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.360158	0.31809	N	0.007022	T	0.79661	0.4484	N	0.17564	0.495	0.31669	N	0.644611	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.001;0.001	B;B;B;B;B	0.21360	0.034;0.003;0.012;0.004;0.012	T	0.67632	-0.5621	10	0.02654	T	1	-30.7581	10.6369	0.45571	0.0:0.076:0.0:0.924	.	444;51;444;226;444	B4E2J0;B4DFR8;Q9NP78-3;B3KNJ8;Q9NP78	.;.;.;.;ABCB9_HUMAN	D	444;444;444;444;444;51;70;51;150;206;101	ENSP00000280560:N444D;ENSP00000441734:N444D;ENSP00000376234:N444D;ENSP00000440288:N444D;ENSP00000394898:N444D;ENSP00000442281:N51D;ENSP00000440244:N70D;ENSP00000444834:N51D;ENSP00000441086:N150D;ENSP00000443433:N206D;ENSP00000443224:N101D	ENSP00000280560:N444D	N	-	1	0	ABCB9	121994941	0.879000	0.30193	1.000000	0.80357	0.998000	0.95712	1.330000	0.33781	0.862000	0.35528	0.528000	0.53228	AAC		0.587	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		10	93	0	0	0	1	0	10	93				
CAND2	23066	broad.mit.edu	37	3	12858323	12858323	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858323T>C	ENST00000456430.2	+	10	1933	c.1892T>C	c.(1891-1893)aTc>aCc	p.I631T	CAND2_ENST00000295989.5_Missense_Mutation_p.I538T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	631					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCCCGCCATCAAGGCGCTT	0.627																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1891-1893)aTc>aCc		cullin-associated and neddylation-dissociated 2 (putative)							68.0	75.0	73.0					3																	12858323		2086	4218	6304	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858323T>C		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1892T>C	3.37:g.12858323T>C	ENSP00000387641:p.Ile631Thr					CAND2_ENST00000295989.5_Missense_Mutation_p.I538T	p.I631T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	1933	+			631					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1892T>C	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268510	0.23136	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.43688	0.94;0.94	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.072071	0.53938	D	0.000050	T	0.29061	0.0722	N	0.14661	0.345	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.25405	0.06;0.033	T	0.13176	-1.0519	10	0.72032	D	0.01	-28.5983	12.3883	0.55345	0.0:0.0:0.0:1.0	.	631;538	O75155;O75155-2	CAND2_HUMAN;.	T	538;631	ENSP00000295989:I538T;ENSP00000387641:I631T	ENSP00000295989:I538T	I	+	2	0	CAND2	12833323	1.000000	0.71417	0.987000	0.45799	0.139000	0.21198	7.667000	0.83888	1.877000	0.54381	0.459000	0.35465	ATC		0.627	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		49	74	0	0	0	1	0	49	74				
TEX33	339669	broad.mit.edu	37	22	37398094	37398094	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37398094C>T	ENST00000405091.2	-	4	524	c.273G>A	c.(271-273)agG>agA	p.R91R	TEX33_ENST00000402860.3_Silent_p.R6R|TEX33_ENST00000381821.1_Silent_p.R91R			O43247	TEX33_HUMAN	testis expressed 33	91																	TCTTCAGGGACCTGGACTGTG	0.642																																						ENST00000405091.2																			0											c.(271-273)agG>agA		testis expressed 33							28.0	25.0	26.0					22																	37398094		2203	4300	6503	SO:0001819	synonymous_variant	339669							g.chr22:37398094C>T	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.273G>A	22.37:g.37398094C>T						TEX33_ENST00000381821.1_Silent_p.R91R|TEX33_ENST00000402860.3_Silent_p.R6R	p.R91R			O43247	EAN57_HUMAN			4	524	-			91					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	c.273G>A	CCDS54524.1																																																																																				0.642	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		10	10	0	0	0	1	0	10	10				
SEPHS2	22928	broad.mit.edu	37	16	30455951	30455951	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30455951G>T	ENST00000478753.2	-	1	1551	c.1098C>A	c.(1096-1098)acC>acA	p.T366T	SEPHS2_ENST00000542752.1_Silent_p.T309T|SEPHS2_ENST00000500504.2_Silent_p.T366T			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	366					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTTCAGCTGAGGTTCCTTGAA	0.478																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1096-1098)acC>acA		selenophosphate synthetase 2							80.0	79.0	79.0					16																	30455951		1881	4105	5986	SO:0001819	synonymous_variant	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30455951G>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1098C>A	16.37:g.30455951G>T						SEPHS2_ENST00000500504.2_Silent_p.T366T|SEPHS2_ENST00000542752.1_Silent_p.T309T	p.T366T			Q99611	SPS2_HUMAN			1	1551	-			366					Q9BUQ2	Silent	SNP	ENST00000478753.2	37	c.1098C>A																																																																																					0.478	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		4	74	1	0	0.217242	1	0.218821	4	74				
MKL1	57591	broad.mit.edu	37	22	40827453	40827453	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40827453G>T	ENST00000355630.3	-	6	685	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	MKL1_ENST00000402042.1_Missense_Mutation_p.S32Y|MKL1_ENST00000402630.1_Missense_Mutation_p.S32Y|MKL1_ENST00000407029.1_Missense_Mutation_p.S32Y|MKL1_ENST00000396617.3_Missense_Mutation_p.S32Y	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	32	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCCGGCCGGGAACGAATCTT	0.468			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(94-96)tCc>tAc		megakaryoblastic leukemia (translocation) 1							257.0	236.0	243.0					22																	40827453		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40827453G>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.95C>A	22.37:g.40827453G>T	ENSP00000347847:p.Ser32Tyr					MKL1_ENST00000407029.1_Missense_Mutation_p.S32Y|MKL1_ENST00000355630.3_Missense_Mutation_p.S32Y|MKL1_ENST00000402630.1_Missense_Mutation_p.S32Y|MKL1_ENST00000402042.1_Missense_Mutation_p.S32Y	p.S32Y			Q969V6	MKL1_HUMAN			6	685	-			32			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.95C>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270462	0.80469	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.4	4.4	0.53042	.	0.364247	0.28933	N	0.013672	D	0.99802	0.9915	M	0.67953	2.075	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.96546	0.9404	10	0.72032	D	0.01	-17.353	17.5547	0.87887	0.0:0.0:1.0:0.0	.	32;32;32	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	Y	32;32;32;32;32;59	ENSP00000347847:S32Y;ENSP00000379861:S32Y;ENSP00000385584:S32Y;ENSP00000385835:S32Y;ENSP00000385076:S32Y;ENSP00000398478:S59Y	ENSP00000347847:S32Y	S	-	2	0	MKL1	39157399	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.873000	0.69644	2.456000	0.83038	0.650000	0.86243	TCC		0.468	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		17	223	1	0	1.33834e-09	1	1.62941e-09	17	223				
CMTM5	116173	broad.mit.edu	37	14	23848328	23848328	+	Missense_Mutation	SNP	C	C	T	rs199634432		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23848328C>T	ENST00000339180.4	+	4	785	c.569C>T	c.(568-570)gCt>gTt	p.A190V	CMTM5_ENST00000397227.3_Missense_Mutation_p.A72V|CMTM5_ENST00000359320.3_Missense_Mutation_p.A123V|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000555731.1_Missense_Mutation_p.A85V|CMTM5_ENST00000342473.4_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	190	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCATTGCTGCTTTTGTGAGT	0.582																																						ENST00000359320.3																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8						c.(367-369)gCt>gTt		CKLF-like MARVEL transmembrane domain containing 5							84.0	71.0	75.0					14																	23848328		2203	4300	6503	SO:0001583	missense	0				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23848328C>T	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.569C>T	14.37:g.23848328C>T	ENSP00000344819:p.Ala190Val					CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000397227.3_Missense_Mutation_p.A72V|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.A190V|CMTM5_ENST00000555731.1_Missense_Mutation_p.A85V	p.A123V	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	3	812	+	all_cancers(95;2e-05)		190			MARVEL.		E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.368C>T		.	.	.	.	.	.	.	.	.	.	C	26.7	4.765199	0.90020	.	.	ENSG00000166091	ENST00000359320;ENST00000339180;ENST00000397227;ENST00000555731	T;T;T	0.63096	1.38;-0.02;-0.02	5.63	5.63	0.86233	Marvel (1);	0.201720	0.35525	N	0.003158	T	0.81069	0.4746	.	.	.	0.80722	D	1	D;D;D;D	0.71674	0.972;0.988;0.972;0.998	P;D;P;D	0.80764	0.787;0.921;0.834;0.994	T	0.82484	-0.0434	9	0.72032	D	0.01	-16.0038	18.8174	0.92081	0.0:1.0:0.0:0.0	.	85;190;72;123	C9JAI6;Q96DZ9;Q96DZ9-5;Q96DZ9-2	.;CKLF5_HUMAN;.;.	V	123;190;72;85	ENSP00000352270:A123V;ENSP00000344819:A190V;ENSP00000451514:A85V	ENSP00000344819:A190V	A	+	2	0	CMTM5	22918168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.415000	0.34748	2.815000	0.96918	0.561000	0.74099	GCT		0.582	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			20	23	0	0	0	1	0	20	23				
CAPN7	23473	broad.mit.edu	37	3	15292681	15292681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15292681C>T	ENST00000253693.2	+	21	2609	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	786	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAATATCATTCCTAGTACCTT	0.338																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(2356-2358)Cct>Tct		calpain 7							138.0	139.0	139.0					3																	15292681		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15292681C>T	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2356C>T	3.37:g.15292681C>T	ENSP00000253693:p.Pro786Ser						p.P786S	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN			21	2609	+			786			Domain N.			Missense_Mutation	SNP	ENST00000253693.2	37	c.2356C>T	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452561	0.96223	.	.	ENSG00000131375	ENST00000253693	D	0.93247	-3.19	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.148246	0.64402	N	0.000007	D	0.97052	0.9037	M	0.88450	2.955	0.80722	D	1	D	0.61080	0.989	P	0.60473	0.875	D	0.96976	0.9712	10	0.72032	D	0.01	-9.6645	20.2347	0.98355	0.0:1.0:0.0:0.0	.	786	Q9Y6W3	CAN7_HUMAN	S	786	ENSP00000253693:P786S	ENSP00000253693:P786S	P	+	1	0	CAPN7	15267685	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.610000	0.82949	2.881000	0.98747	0.650000	0.86243	CCT		0.338	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		51	77	0	0	0	1	0	51	77				
PCDHAC1	56135	broad.mit.edu	37	5	140307659	140307659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140307659C>A	ENST00000253807.2	+	1	1182	c.1182C>A	c.(1180-1182)taC>taA	p.Y394*	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.Y394*|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACAACTACTACAGCCTGC	0.517																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1180-1182)taC>taA									82.0	80.0	81.0					5																	140307659		2203	4300	6503	SO:0001587	stop_gained	0							g.chr5:140307659C>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1182C>A	5.37:g.140307659C>A	ENSP00000253807:p.Tyr394*					PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.Y394*|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.Y394*	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1182	+								Q9Y5F5|Q9Y5I5	Nonsense_Mutation	SNP	ENST00000253807.2	37	c.1182C>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378612	0.82682	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	.	.	.	5.81	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5192	0.39124	0.0:0.7275:0.0:0.2725	.	.	.	.	X	394	.	ENSP00000253807:Y394X	Y	+	3	2	PCDHAC1	140287843	0.994000	0.37717	0.977000	0.42913	0.996000	0.88848	0.571000	0.23669	0.800000	0.34041	0.462000	0.41574	TAC		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		4	22	1	0	0.00909568	1	0.00947522	4	22				
SRPX2	27286	broad.mit.edu	37	X	99901318	99901318	+	5'UTR	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99901318G>T	ENST00000373004.3	+	0	427				SRPX2_ENST00000481988.1_Splice_Site	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2						angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCCTTTCAAGGATGGCCAGT	0.453																																						ENST00000481988.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.e2-1		sushi-repeat containing protein, X-linked 2							135.0	117.0	123.0					X																	99901318		2203	4300	6503	SO:0001623	5_prime_UTR_variant	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99901318G>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.-2G>T	X.37:g.99901318G>T						SRPX2_ENST00000373004.3_5'UTR				O60687	SRPX2_HUMAN			2	295	+								B3KQT3|Q8WW85	Splice_Site	SNP	ENST00000373004.3	37		CCDS14471.1																																																																																				0.453	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		39	52	1	0	1.52319e-26	1	2.02909e-26	39	52				
OR2K2	26248	broad.mit.edu	37	9	114089774	114089774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114089774C>T	ENST00000374428.1	-	1	1026	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	OR2K2_ENST00000302681.1_Missense_Mutation_p.E314K			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E314K(1)|p.E343K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAGAGATGTTCGTGTGTTTGA	0.408																																						ENST00000374428.1																			2	Substitution - Missense(2)	p.E314K(1)|p.E343K(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(1027-1029)Gaa>Aaa		olfactory receptor, family 2, subfamily K, member 2							110.0	94.0	99.0					9																	114089774		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114089774C>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.1027G>A	9.37:g.114089774C>T	ENSP00000363550:p.Glu343Lys					OR2K2_ENST00000302681.1_Missense_Mutation_p.E314K	p.E343K			Q8NGT1	OR2K2_HUMAN			1	1026	-			343					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.1027G>A		.	.	.	.	.	.	.	.	.	.	C	4.937	0.174108	0.09391	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.09817	2.94;3.02	4.54	3.62	0.41486	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.28783	0.222	B	0.17098	0.017	T	0.31420	-0.9944	9	0.07990	T	0.79	.	12.5271	0.56093	0.0:0.8307:0.1693:0.0	.	343	Q8NGT1	OR2K2_HUMAN	K	314;343	ENSP00000305055:E314K;ENSP00000363550:E343K	ENSP00000305055:E314K	E	-	1	0	OR2K2	113129595	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.453000	0.06778	1.233000	0.43693	0.655000	0.94253	GAA		0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		20	41	0	0	0	1	0	20	41				
DIP2C	22982	broad.mit.edu	37	10	486833	486833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486833C>T	ENST00000280886.6	-	4	459	c.372G>A	c.(370-372)tcG>tcA	p.S124S	DIP2C_ENST00000381496.3_Silent_p.S17S|RP11-490E15.2_ENST00000425723.2_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	124						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGCGTCCATCGAGGTCTGCA	0.612																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(370-372)tcG>tcA		DIP2 disco-interacting protein 2 homolog C (Drosophila)							127.0	97.0	107.0					10																	486833		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:486833C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.372G>A	10.37:g.486833C>T						DIP2C_ENST00000381496.3_Silent_p.S17S|RP11-490E15.2_ENST00000425723.2_RNA	p.S124S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	4	459	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	124					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.372G>A	CCDS7054.1																																																																																				0.612	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		24	32	0	0	0	1	0	24	32				
ABHD10	55347	broad.mit.edu	37	3	111697940	111697940	+	Missense_Mutation	SNP	C	C	T	rs371914649		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111697940C>T	ENST00000273359.3	+	1	59	c.32C>T	c.(31-33)gCc>gTc	p.A11V	ABHD10_ENST00000494817.1_Missense_Mutation_p.A11V|ABHD10_ENST00000534857.1_5'UTR	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	11					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GCTGTGGCGGCCTGGGTACCT	0.687																																						ENST00000273359.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(31-33)gCc>gTc		abhydrolase domain containing 10							40.0	42.0	41.0					3																	111697940		2202	4300	6502	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111697940C>T	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.32C>T	3.37:g.111697940C>T	ENSP00000273359:p.Ala11Val					ABHD10_ENST00000494817.1_Missense_Mutation_p.A11V|ABHD10_ENST00000534857.1_5'UTR	p.A11V	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN			1	59	+			11					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.32C>T	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695630	0.48202	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.50548	0.74	4.42	2.61	0.31194	.	1.232260	0.05958	N	0.640123	T	0.42630	0.1211	L	0.50919	1.6	0.21652	N	0.999607	B	0.02656	0.0	B	0.04013	0.001	T	0.36504	-0.9745	10	0.59425	D	0.04	-0.9014	6.0119	0.19580	0.0:0.7731:0.0:0.2269	.	11	Q9NUJ1	ABHDA_HUMAN	V	11	ENSP00000273359:A11V	ENSP00000273359:A11V	A	+	2	0	ABHD10	113180630	0.013000	0.17824	0.005000	0.12908	0.005000	0.04900	3.137000	0.50562	1.212000	0.43366	0.655000	0.94253	GCC		0.687	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		6	14	0	0	0	1	0	6	14				
PIGO	84720	broad.mit.edu	37	9	35093169	35093169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35093169G>A	ENST00000378617.3	-	6	1371	c.977C>T	c.(976-978)aCg>aTg	p.T326M	PIGO_ENST00000298004.5_Missense_Mutation_p.T326M|PIGO_ENST00000361778.2_Missense_Mutation_p.T326M|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.T326M	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	326					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGGGCCAGCGTGGGCACAAG	0.542																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(976-978)aCg>aTg		phosphatidylinositol glycan anchor biosynthesis, class O							49.0	46.0	47.0					9																	35093169		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093169G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.977C>T	9.37:g.35093169G>A	ENSP00000367880:p.Thr326Met					PIGO_ENST00000361778.2_Missense_Mutation_p.T326M|PIGO_ENST00000298004.5_Missense_Mutation_p.T326M|PIGO_ENST00000341666.3_Missense_Mutation_p.T326M	p.T326M	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	1371	-			326					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.977C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.554121	0.65425	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.101720	0.64402	D	0.000003	T	0.75309	0.3832	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.79107	-0.1939	10	0.87932	D	0	-3.8616	19.6982	0.96039	0.0:0.0:1.0:0.0	.	326;326	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	M	326	ENSP00000298004:T326M;ENSP00000367880:T326M;ENSP00000339382:T326M;ENSP00000354678:T326M	ENSP00000298004:T326M	T	-	2	0	PIGO	35083169	1.000000	0.71417	0.967000	0.41034	0.971000	0.66376	7.170000	0.77587	2.894000	0.99253	0.655000	0.94253	ACG		0.542	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		13	21	0	0	0	1	0	13	21				
PHKG1	5260	broad.mit.edu	37	7	56148787	56148787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56148787G>A	ENST00000297373.2	-	10	1318	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	PHKG1_ENST00000537360.1_Missense_Mutation_p.P321L|PHKG1_ENST00000452681.2_Missense_Mutation_p.P407L	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	375					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGCCTTGGGTGTGTTCTC	0.637																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(1219-1221)cCc>cTc		phosphorylase kinase, gamma 1 (muscle)							49.0	46.0	47.0					7																	56148787		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56148787G>A	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.1124C>T	7.37:g.56148787G>A	ENSP00000297373:p.Pro375Leu					PHKG1_ENST00000537360.1_Missense_Mutation_p.P321L|PHKG1_ENST00000297373.2_Missense_Mutation_p.P375L	p.P407L	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		11	1369	-	Breast(14;0.214)		375					B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.1220C>T	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821944	0.90873	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373	T;T;T	0.32988	1.43;1.43;1.43	5.4	5.4	0.78164	.	0.282730	0.30302	N	0.009934	T	0.48732	0.1516	M	0.71206	2.165	0.80722	D	1	P;P;D;B	0.55605	0.568;0.478;0.972;0.414	B;B;P;B	0.58721	0.21;0.282;0.844;0.234	T	0.30327	-0.9982	10	0.27082	T	0.32	-33.0629	14.9116	0.70761	0.0:0.1537:0.8463:0.0	.	321;366;407;375	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	L	407;321;375	ENSP00000445440:P407L;ENSP00000441528:P321L;ENSP00000297373:P375L	ENSP00000297373:P375L	P	-	2	0	PHKG1	56116281	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.706000	0.92434	0.563000	0.77884	CCC		0.637	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		3	58	0	0	0	1	0	3	58				
DCAF8L1	139425	broad.mit.edu	37	X	27997794	27997794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27997794C>T	ENST00000441525.1	-	1	1772	c.1658G>A	c.(1657-1659)cGt>cAt	p.R553H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	553										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAACAGGTGACGCACGAAGAA	0.478																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1657-1659)cGt>cAt		DDB1 and CUL4 associated factor 8-like 1							168.0	131.0	144.0					X																	27997794		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27997794C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1658G>A	X.37:g.27997794C>T	ENSP00000405222:p.Arg553His						p.R553H	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1772	-			553					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1658G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.607651	0.00842	.	.	ENSG00000226372	ENST00000441525	T	0.65549	-0.16	0.842	0.842	0.18927	.	0.517808	0.19349	N	0.116454	T	0.39759	0.1090	L	0.31294	0.92	0.09310	N	0.999998	B	0.15141	0.012	B	0.12837	0.008	T	0.08126	-1.0737	10	0.18710	T	0.47	-0.2709	3.0536	0.06177	0.0:0.6655:0.0:0.3345	.	553	A6NGE4	DC8L1_HUMAN	H	553	ENSP00000405222:R553H	ENSP00000405222:R553H	R	-	2	0	DCAF8L1	27907715	0.987000	0.35691	0.005000	0.12908	0.007000	0.05969	-0.061000	0.11693	0.691000	0.31592	0.284000	0.19432	CGT		0.478	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		29	62	0	0	0	1	0	29	62				
COL18A1	80781	broad.mit.edu	37	21	46875554	46875554	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46875554A>T	ENST00000359759.4	+	1	131	c.110A>T	c.(109-111)gAc>gTc	p.D37V	COL18A1_ENST00000355480.5_Missense_Mutation_p.D37V|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	37					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AATAATGAGGACACCAGCCAT	0.627																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(109-111)gAc>gTc		collagen, type XVIII, alpha 1							54.0	70.0	65.0					21																	46875554		2111	4234	6345	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875554A>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.110A>T	21.37:g.46875554A>T	ENSP00000352798:p.Asp37Val					COL18A1_ENST00000355480.5_Missense_Mutation_p.D37V|COL18A1_ENST00000400337.2_Intron	p.D37V			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	131	+			37					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.110A>T		.	.	.	.	.	.	.	.	.	.	A	9.615	1.132220	0.21041	.	.	ENSG00000182871	ENST00000355480;ENST00000359759;ENST00000539645	T;T	0.34472	1.36;1.36	3.61	-3.01	0.05463	Domain of unknown function DUF959, collagen XVIII, N-terminal (1);	2.589200	0.02521	N	0.092586	T	0.25938	0.0632	L	0.36672	1.1	0.09310	N	1	B;B	0.22983	0.078;0.063	B;B	0.22880	0.042;0.025	T	0.10847	-1.0612	10	0.42905	T	0.14	.	2.4373	0.04485	0.4029:0.2524:0.2516:0.0932	.	37;37	P39060;P39060-1	COIA1_HUMAN;.	V	37	ENSP00000347665:D37V;ENSP00000352798:D37V	ENSP00000347665:D37V	D	+	2	0	COL18A1	45699982	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.009000	0.03660	-0.814000	0.04352	-0.619000	0.04042	GAC		0.627	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			22	49	0	0	0	1	0	22	49				
IL9	3578	broad.mit.edu	37	5	135231130	135231130	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135231130G>T	ENST00000274520.1	-	3	192	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	61					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATACTTACAGAGGGAATGCC	0.294																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.e3+1		interleukin 9							48.0	52.0	51.0					5																	135231130		2201	4300	6501	SO:0001630	splice_region_variant	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231130G>T	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.183+1C>A	5.37:g.135231130G>T							p.S61_splice	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	192	-			61						Splice_Site	SNP	ENST00000274520.1	37	c.183_splice	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222513	0.39300	.	.	ENSG00000145839	ENST00000274520	T	0.51071	0.72	4.98	4.98	0.66077	.	0.518673	0.16764	N	0.200511	T	0.64571	0.2610	L	0.56769	1.78	0.31170	N	0.703314	D	0.89917	1.0	D	0.73708	0.981	T	0.67201	-0.5730	10	0.72032	D	0.01	-22.0771	14.1424	0.65327	0.0:0.0:1.0:0.0	.	61	P15248	IL9_HUMAN	Y	61	ENSP00000274520:S61Y	ENSP00000274520:S61Y	S	-	2	0	IL9	135259029	0.996000	0.38824	0.997000	0.53966	0.200000	0.23975	4.431000	0.59915	2.479000	0.83701	0.655000	0.94253	TCT		0.294	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590	Missense_Mutation	8	66	1	0	1.76689e-08	1	2.11513e-08	8	66				
LDB2	9079	broad.mit.edu	37	4	16504355	16504355	+	Missense_Mutation	SNP	C	C	T	rs138614817		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:16504355C>T	ENST00000304523.5	-	8	1356	c.1033G>A	c.(1033-1035)Gcg>Acg	p.A345T	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.A343T|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	345					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCCCCAGCGCGGGTGAATTG	0.532																																						ENST00000304523.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(1033-1035)Gcg>Acg		LIM domain binding 2		C	,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	196.0	188.0	191.0		,1033	5.5	1.0	4	dbSNP_134	191	2,8598	1.2+/-3.3	0,2,4298	no	utr-3,missense	LDB2	NM_001130834.1,NM_001290.3	,58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,benign	,345/374	16504355	3,13003	2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504355C>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.1033G>A	4.37:g.16504355C>T	ENSP00000306772:p.Ala345Thr					LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.A343T|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	p.A345T	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN			8	1356	-			345					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.1033G>A	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008692	0.54361	2.27E-4	2.33E-4	ENSG00000169744	ENST00000515064;ENST00000304523	T;T	0.57273	0.41;0.41	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000007	T	0.62925	0.2468	L	0.41824	1.3	0.80722	D	1	D;B;B;B	0.76494	0.999;0.138;0.165;0.254	D;B;B;B	0.68621	0.959;0.024;0.01;0.023	T	0.54827	-0.8235	10	0.17832	T	0.49	-16.6993	18.3199	0.90234	0.0:1.0:0.0:0.0	.	309;343;345;319	B7Z6D0;G5E9Y7;O43679;O43679-3	.;.;LDB2_HUMAN;.	T	343;345	ENSP00000422552:A343T;ENSP00000306772:A345T	ENSP00000306772:A345T	A	-	1	0	LDB2	16113453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.092000	0.71414	2.558000	0.86282	0.655000	0.94253	GCG		0.532	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			16	173	0	0	0	1	0	16	173				
C5orf34	375444	broad.mit.edu	37	5	43506021	43506021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43506021G>T	ENST00000306862.2	-	4	1136	c.761C>A	c.(760-762)cCt>cAt	p.P254H	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	254										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAAAGACAAAGGATATTTCCA	0.398																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(760-762)cCt>cAt		chromosome 5 open reading frame 34							110.0	112.0	111.0					5																	43506021		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43506021G>T	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.761C>A	5.37:g.43506021G>T	ENSP00000303490:p.Pro254His					RP11-159F24.3_ENST00000505645.1_RNA	p.P254H	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			4	1136	-	Lung NSC(6;2.07e-05)		254						Missense_Mutation	SNP	ENST00000306862.2	37	c.761C>A	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036491	0.75617	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.80566	-1.39	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	M	0.78637	2.42	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.91041	0.4871	10	0.87932	D	0	-19.7874	16.5572	0.84488	0.0:0.0:1.0:0.0	.	254	Q96MH7	CE034_HUMAN	H	254;140	ENSP00000303490:P254H	ENSP00000303490:P254H	P	-	2	0	C5orf34	43541778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.880000	0.75578	2.351000	0.79841	0.591000	0.81541	CCT		0.398	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		12	86	1	0	7.03913e-09	1	8.47891e-09	12	86				
CT55	54967	broad.mit.edu	37	X	134305083	134305083	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134305083G>T	ENST00000276241.6	-	1	239	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	CXorf48_ENST00000344129.2_Missense_Mutation_p.L5M	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		5										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTCAGAAGCCTGAGC	0.632																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(13-15)Ctg>Atg		chromosome X open reading frame 48							122.0	96.0	105.0					X																	134305083		2203	4300	6503	SO:0001583	missense	54967							g.chrX:134305083G>T																												ENST00000276241.6:c.13C>A	X.37:g.134305083G>T	ENSP00000276241:p.Leu5Met					CXorf48_ENST00000276241.6_Missense_Mutation_p.L5M	p.L5M	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			1	239	-	Acute lymphoblastic leukemia(192;0.000127)		5					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.13C>A	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510437	0.27036	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.27256	1.68;1.72	2.31	-4.59	0.03400	.	.	.	.	.	T	0.17874	0.0429	L	0.43152	1.355	0.09310	N	1	D	0.56287	0.975	P	0.45712	0.491	T	0.03684	-1.1013	9	0.51188	T	0.08	-4.4192	0.5884	0.00723	0.441:0.1701:0.1985:0.1905	.	5	Q8WUE5	CX048_HUMAN	M	5	ENSP00000276241:L5M;ENSP00000343893:L5M	ENSP00000276241:L5M	L	-	1	2	CXorf48	134132749	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	-0.064000	0.11636	-1.534000	0.01743	-0.263000	0.10527	CTG		0.632	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			28	34	1	0	1.2476e-16	1	1.61147e-16	28	34				
IL20RA	53832	broad.mit.edu	37	6	137330486	137330486	+	Missense_Mutation	SNP	C	C	T	rs143005532	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137330486C>T	ENST00000316649.5	-	4	782	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	IL20RA_ENST00000367746.3_Missense_Mutation_p.V183M|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367748.1_Missense_Mutation_p.V72M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V134M	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	183	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AACACAGACACGTTATACTTC	0.418													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20545	0.0		0.001	False		,,,				2504	0.0					ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(214-216)Gtg>Atg		interleukin 20 receptor, alpha		C	MET/VAL	3,4403	6.2+/-15.9	0,3,2200	198.0	185.0	189.0		547	5.1	0.7	6	dbSNP_134	189	14,8586	11.2+/-40.8	1,12,4287	yes	missense	IL20RA	NM_014432.2	21	1,15,6487	TT,TC,CC		0.1628,0.0681,0.1307	probably-damaging	183/554	137330486	17,12989	2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137330486C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.547G>A	6.37:g.137330486C>T	ENSP00000314976:p.Val183Met					IL20RA_ENST00000367746.3_Missense_Mutation_p.V183M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V134M|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.V183M	p.V72M			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	3	800	-	Colorectal(23;0.24)		183			Fibronectin type-III 1.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.214G>A	CCDS5181.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.29	2.491622	0.44249	6.81E-4	0.001628	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547;ENST00000367746	T;T;T;T	0.57273	0.41;0.63;0.41;0.41	5.92	5.06	0.68205	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.065479	0.64402	D	0.000010	T	0.65719	0.2718	M	0.81341	2.54	0.47214	D	0.999355	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72659	-0.4226	10	0.87932	D	0	-15.3828	11.9996	0.53222	0.0:0.9203:0.0:0.0797	.	72;183	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	M	183;72;134;183	ENSP00000314976:V183M;ENSP00000356722:V72M;ENSP00000437843:V134M;ENSP00000356720:V183M	ENSP00000314976:V183M	V	-	1	0	IL20RA	137372179	0.989000	0.36119	0.701000	0.30321	0.080000	0.17528	2.921000	0.48852	1.525000	0.49052	0.650000	0.86243	GTG		0.418	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		35	79	0	0	0	1	0	35	79				
THBS3	7059	broad.mit.edu	37	1	155174654	155174654	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155174654T>G	ENST00000368378.3	-	4	658	c.638A>C	c.(637-639)cAc>cCc	p.H213P	THBS3_ENST00000541990.1_Intron|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	213					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCTGCACTGTGGATGGACTC	0.532																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(637-639)cAc>cCc		thrombospondin 3							178.0	143.0	155.0					1																	155174654		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155174654T>G	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.638A>C	1.37:g.155174654T>G	ENSP00000357362:p.His213Pro					RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000428962.2_Intron|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000487250.1_5'UTR	p.H213P	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	658	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		213					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.638A>C	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105931	0.37145	.	.	ENSG00000169231	ENST00000368378	T	0.80480	-1.38	5.13	4.0	0.46444	.	0.173029	0.52532	D	0.000075	T	0.52306	0.1726	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28971	0.229;0.0;0.0	B;B;B	0.31101	0.124;0.001;0.001	T	0.52830	-0.8523	10	0.32370	T	0.25	-22.3095	9.2277	0.37416	0.0:0.086:0.0:0.914	.	213;213;213	Q53FK6;Q2HIZ0;P49746	.;.;TSP3_HUMAN	P	213	ENSP00000357362:H213P	ENSP00000357362:H213P	H	-	2	0	THBS3	153441278	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.315000	0.59172	1.083000	0.41159	0.523000	0.50628	CAC		0.532	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		9	113	0	0	0	1	0	9	113				
OR2M5	127059	broad.mit.edu	37	1	248308747	248308747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308747C>T	ENST00000366476.1	+	1	298	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTGTGCCACACAAATTTTCTT	0.463																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(298-300)Caa>Taa		olfactory receptor, family 2, subfamily M, member 5							292.0	288.0	290.0					1																	248308747		2203	4300	6503	SO:0001587	stop_gained	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308747C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.298C>T	1.37:g.248308747C>T	ENSP00000355432:p.Gln100*						p.Q100*	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	298	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		100						Nonsense_Mutation	SNP	ENST00000366476.1	37	c.298C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	28.0	4.878396	0.91740	.	.	ENSG00000162727	ENST00000366476	.	.	.	3.28	2.33	0.28932	.	0.279643	0.18917	U	0.127595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.292	0.49256	0.1848:0.8152:0.0:0.0	.	.	.	.	X	100	.	ENSP00000355432:Q100X	Q	+	1	0	OR2M5	246375370	0.976000	0.34144	0.013000	0.15412	0.671000	0.39405	2.921000	0.48852	0.439000	0.26476	0.492000	0.49549	CAA		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		17	314	0	0	0	1	0	17	314				
RELN	5649	broad.mit.edu	37	7	103234855	103234855	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103234855G>T	ENST00000428762.1	-	26	3783	c.3624C>A	c.(3622-3624)gaC>gaA	p.D1208E	RELN_ENST00000424685.2_Missense_Mutation_p.D1208E|RELN_ENST00000343529.5_Missense_Mutation_p.D1208E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1208					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGGTCATAGTCCTCCCCTG	0.493																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3622-3624)gaC>gaA		reelin							221.0	214.0	217.0					7																	103234855		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234855G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3624C>A	7.37:g.103234855G>T	ENSP00000392423:p.Asp1208Glu					RELN_ENST00000424685.2_Missense_Mutation_p.D1208E|RELN_ENST00000343529.5_Missense_Mutation_p.D1208E	p.D1208E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3783	-			1208					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3624C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483690	0.44147	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41758	1.91;0.99;1.91	5.75	5.75	0.90469	.	0.113555	0.64402	D	0.000015	T	0.31358	0.0794	N	0.25890	0.77	0.25336	N	0.988995	B;B	0.30526	0.182;0.283	B;B	0.31751	0.135;0.092	T	0.31668	-0.9935	10	0.62326	D	0.03	.	10.3272	0.43801	0.0:0.2408:0.6321:0.1272	.	1208;1208	P78509-2;P78509	.;RELN_HUMAN	E	1208	ENSP00000392423:D1208E;ENSP00000345694:D1208E;ENSP00000388446:D1208E	ENSP00000345694:D1208E	D	-	3	2	RELN	103022091	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.482000	0.22276	2.707000	0.92482	0.591000	0.81541	GAC		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		170	98	1	0	1.0846e-72	1	1.46864e-72	170	98				
MTHFD2	10797	broad.mit.edu	37	2	74432916	74432916	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74432916C>A	ENST00000394053.2	+	2	266	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409601.1_Silent_p.A62A|MTHFD2_ENST00000409804.1_Silent_p.A62A|MTHFD2_ENST00000477455.1_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	62					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	AGTGGGTGGCCTCAGGCAACA	0.537																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(184-186)gcC>gcA		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						86.0	89.0	88.0					2																	74432916		1976	4159	6135	SO:0001819	synonymous_variant	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74432916C>A	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.186C>A	2.37:g.74432916C>A						MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409601.1_Silent_p.A62A|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Silent_p.A62A|MTHFD2_ENST00000264090.4_Intron	p.A62A	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			2	266	+			62					Q53G90|Q53GV5|Q53S36|Q7Z650	Silent	SNP	ENST00000394053.2	37	c.186C>A	CCDS1935.2																																																																																				0.537	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			14	32	1	0	4.3838e-07	1	5.12524e-07	14	32				
CHD6	84181	broad.mit.edu	37	20	40033814	40033814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40033814G>T	ENST00000373233.3	-	37	7744	c.7567C>A	c.(7567-7569)Cca>Aca	p.P2523T	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2523					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCATGCCTGGCAGCATCATG	0.597																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7567-7569)Cca>Aca		chromodomain helicase DNA binding protein 6							78.0	68.0	71.0					20																	40033814		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033814G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7567C>A	20.37:g.40033814G>T	ENSP00000362330:p.Pro2523Thr					CHD6_ENST00000480022.1_5'UTR	p.P2523T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	7744	-		Myeloproliferative disorder(115;0.00425)	2523					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7567C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164297	0.78339	.	.	ENSG00000124177	ENST00000373233	D	0.88818	-2.43	5.55	5.55	0.83447	.	0.106857	0.42172	D	0.000742	D	0.93291	0.7862	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	D	0.93285	0.6663	10	0.72032	D	0.01	-15.839	19.7069	0.96076	0.0:0.0:1.0:0.0	.	2523	Q8TD26	CHD6_HUMAN	T	2523	ENSP00000362330:P2523T	ENSP00000362330:P2523T	P	-	1	0	CHD6	39467228	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.363000	0.97131	2.894000	0.99253	0.591000	0.81541	CCA		0.597	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			28	39	1	0	1.12875e-08	1	1.35699e-08	28	39				
NCAPD2	9918	broad.mit.edu	37	12	6638999	6638999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6638999C>T	ENST00000315579.5	+	29	4511	c.3712C>T	c.(3712-3714)Cga>Tga	p.R1238*	RP5-940J5.3_ENST00000537921.1_RNA|NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.R1193*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1238					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCTCACAGAGCGAGGCCTCCG	0.522																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(3712-3714)Cga>Tga		non-SMC condensin I complex, subunit D2							94.0	92.0	93.0					12																	6638999		2203	4300	6503	SO:0001587	stop_gained	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6638999C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3712C>T	12.37:g.6638999C>T	ENSP00000325017:p.Arg1238*					NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.R1193*	p.R1238*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			29	4511	+			1238					D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	ENST00000315579.5	37	c.3712C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	43	10.265391	0.99371	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	.	.	.	5.51	5.51	0.81932	.	0.068652	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-10.7973	14.2861	0.66247	0.1487:0.8513:0.0:0.0	.	.	.	.	X	1238;1193	.	ENSP00000325017:R1238X	R	+	1	2	NCAPD2	6509260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.562000	0.45914	2.579000	0.87056	0.462000	0.41574	CGA		0.522	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		41	47	0	0	0	1	0	41	47				
CNR2	1269	broad.mit.edu	37	1	24201569	24201569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201569G>T	ENST00000374472.4	-	2	700	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	CNR2_ENST00000536471.1_Missense_Mutation_p.S180Y	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	180					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GAAAAGCTCAGAGCAGGGCCT	0.567																																						ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(538-540)tCt>tAt		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						61.0	62.0	62.0					1																	24201569		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201569G>T	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.539C>A	1.37:g.24201569G>T	ENSP00000363596:p.Ser180Tyr					CNR2_ENST00000374472.4_Missense_Mutation_p.S180Y	p.S180Y			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	797	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	180					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.539C>A	CCDS245.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730330	0.89390	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.37915	1.17;1.17	5.92	5.92	0.95590	GPCR, rhodopsin-like superfamily (1);	0.052889	0.85682	D	0.000000	T	0.68339	0.2990	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72293	-0.4336	10	0.87932	D	0	.	20.3116	0.98642	0.0:0.0:1.0:0.0	.	180	P34972	CNR2_HUMAN	Y	180	ENSP00000363596:S180Y;ENSP00000442830:S180Y	ENSP00000363596:S180Y	S	-	2	0	CNR2	24074156	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.860000	0.99555	2.793000	0.96121	0.650000	0.86243	TCT		0.567	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		4	40	1	0	0.184627	1	0.186383	4	40				
OR2AG1	144125	broad.mit.edu	37	11	6807113	6807113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6807113C>T	ENST00000307401.4	+	1	866	c.845C>T	c.(844-846)aCt>aTt	p.T282I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAATTGTCACTCCAGCCCTG	0.507																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(844-846)aCt>aTt		olfactory receptor, family 2, subfamily AG, member 1							135.0	121.0	126.0					11																	6807113		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6807113C>T	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.845C>T	11.37:g.6807113C>T	ENSP00000307447:p.Thr282Ile						p.T282I	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	866	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	282					B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.845C>T	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244027	0.58995	.	.	ENSG00000170803	ENST00000307401	T	0.37584	1.19	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000075	T	0.39358	0.1075	L	0.38733	1.17	0.35751	D	0.81944	P	0.41450	0.75	P	0.47827	0.558	T	0.54084	-0.8346	10	0.72032	D	0.01	.	14.8648	0.70406	0.0:1.0:0.0:0.0	.	282	Q9H205	O2AG1_HUMAN	I	282	ENSP00000307447:T282I	ENSP00000307447:T282I	T	+	2	0	OR2AG1	6763689	0.131000	0.22433	0.999000	0.59377	0.951000	0.60555	2.724000	0.47285	2.454000	0.82982	0.655000	0.94253	ACT		0.507	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		28	34	0	0	0	1	0	28	34				
SETDB1	9869	broad.mit.edu	37	1	150936218	150936218	+	Splice_Site	SNP	G	G	A	rs111660370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150936218G>A	ENST00000271640.5	+	20	3859		c.e20+1		RP11-316M1.12_ENST00000560481.1_RNA|SETDB1_ENST00000368969.4_Splice_Site|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'Flank|CERS2_ENST00000561294.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACCTCAACGTGAGACCCCT	0.468																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.e20+1		SET domain, bifurcated 1							71.0	62.0	65.0					1																	150936218		2203	4300	6503	SO:0001630	splice_region_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936218G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3669+1G>A	1.37:g.150936218G>A						CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Splice_Site		NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		20	3859	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	SNP	ENST00000271640.5	37		CCDS44217.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.070487|4.070487	0.76301|0.76301	.|.	.|.	ENSG00000143379|ENSG00000143379	ENST00000271640;ENST00000368969|ENST00000498193	.|T	.|0.35789	.|1.29	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56292	.|0.1975	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.54330	.|-0.8310	.|7	.|.	.|.	.|.	.|.	19.7359|19.7359	0.96202|0.96202	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1224	.|E9PRF4	.|.	.|M	-1|1224	.|ENSP00000432348:V1224M	.|.	.|V	+|+	.|1	.|0	SETDB1|SETDB1	149202842|149202842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.706000|0.706000	0.40770|0.40770	9.806000|9.806000	0.99153|0.99153	2.672000|2.672000	0.90937|0.90937	0.462000|0.462000	0.41574|0.41574	.|GTG		0.468	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		Intron	30	43	0	0	0	1	0	30	43				
CD5L	922	broad.mit.edu	37	1	157805642	157805642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157805642G>T	ENST00000368174.4	-	3	455	c.359C>A	c.(358-360)gCt>gAt	p.A120D	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	120	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGATGCCCCAGCATCTTCATC	0.498																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(358-360)gCt>gAt		CD5 molecule-like							129.0	129.0	129.0					1																	157805642		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805642G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.359C>A	1.37:g.157805642G>T	ENSP00000357156:p.Ala120Asp						p.A120D	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	455	-	all_hematologic(112;0.0378)		120			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.359C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164302	0.57476	.	.	ENSG00000073754	ENST00000368174	T	0.44482	0.92	4.68	3.74	0.42951	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.159204	0.29558	N	0.011812	T	0.69351	0.3101	H	0.98901	4.365	0.33511	D	0.591151	D	0.89917	1.0	D	0.83275	0.996	T	0.76165	-0.3059	10	0.87932	D	0	.	7.4424	0.27192	0.191:0.0:0.809:0.0	.	120	O43866	CD5L_HUMAN	D	120	ENSP00000357156:A120D	ENSP00000357156:A120D	A	-	2	0	CD5L	156072266	0.997000	0.39634	0.094000	0.20943	0.021000	0.10359	2.907000	0.48743	2.419000	0.82065	0.563000	0.77884	GCT		0.498	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		71	96	1	0	7.25294e-45	1	9.79468e-45	71	96				
ACSBG1	23205	broad.mit.edu	37	15	78474911	78474911	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78474911A>G	ENST00000258873.4	-	7	996	c.791T>C	c.(790-792)cTg>cCg	p.L264P	ACSBG1_ENST00000560817.1_Missense_Mutation_p.L22P|ACSBG1_ENST00000541759.1_Missense_Mutation_p.L22P	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	264					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GATGGCGTCCAGGGCTTCCTC	0.587																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(790-792)cTg>cCg		acyl-CoA synthetase bubblegum family member 1							81.0	70.0	74.0					15																	78474911		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474911A>G	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.791T>C	15.37:g.78474911A>G	ENSP00000258873:p.Leu264Pro					ACSBG1_ENST00000560817.1_Missense_Mutation_p.L22P|ACSBG1_ENST00000541759.1_Missense_Mutation_p.L22P	p.L264P	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			7	996	-			264					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.791T>C	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086310	0.55861	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.41400	1.25;1.0	5.35	5.35	0.76521	AMP-dependent synthetase/ligase (1);	0.189532	0.34460	N	0.003948	T	0.68329	0.2989	M	0.87682	2.9	0.80722	D	1	D;D	0.71674	0.998;0.99	D;D	0.76071	0.987;0.972	T	0.74156	-0.3756	10	0.59425	D	0.04	-11.3882	14.2276	0.65871	1.0:0.0:0.0:0.0	.	260;264	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	P	264;22	ENSP00000258873:L264P;ENSP00000439955:L22P	ENSP00000258873:L264P	L	-	2	0	ACSBG1	76261966	1.000000	0.71417	0.655000	0.29622	0.101000	0.19017	9.199000	0.95003	2.026000	0.59711	0.529000	0.55759	CTG		0.587	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		4	32	0	0	0	1	0	4	32				
LRFN5	145581	broad.mit.edu	37	14	42356327	42356327	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356327G>T	ENST00000298119.4	+	3	1688	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	LRFN5_ENST00000554120.1_Missense_Mutation_p.V167F|LRFN5_ENST00000554171.1_Missense_Mutation_p.V167F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	167						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGGATGCTGTTGAGAAGAT	0.423										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(499-501)Gtt>Ttt		leucine rich repeat and fibronectin type III domain containing 5							88.0	74.0	78.0					14																	42356327		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356327G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.499G>T	14.37:g.42356327G>T	ENSP00000298119:p.Val167Phe	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.V167F|LRFN5_ENST00000554120.1_Missense_Mutation_p.V167F	p.V167F			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2931	+			167					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.499G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929270	0.34096	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.81247	-1.47;-1.47;-1.47	5.56	5.56	0.83823	.	0.000000	0.49305	D	0.000149	T	0.47451	0.1446	N	0.00030	-2.605	0.53688	D	0.999975	B;B	0.28636	0.215;0.218	B;B	0.39339	0.287;0.297	T	0.65199	-0.6226	10	0.07030	T	0.85	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	167;167	G3V364;Q96NI6	.;LRFN5_HUMAN	F	167	ENSP00000298119:V167F;ENSP00000451897:V167F;ENSP00000451067:V167F	ENSP00000298119:V167F	V	+	1	0	LRFN5	41426077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.681000	0.84073	2.595000	0.87683	0.650000	0.86243	GTT		0.423	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		21	25	1	0	4.35082e-09	1	5.25983e-09	21	25				
FAT1	2195	broad.mit.edu	37	4	187524130	187524130	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187524130G>A	ENST00000441802.2	-	20	11618	c.11409C>T	c.(11407-11409)tcC>tcT	p.S3803S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3803	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACACACATTCGGATCCCTCAG	0.517										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11407-11409)tcC>tcT		FAT atypical cadherin 1							81.0	82.0	82.0					4																	187524130		1959	4159	6118	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524130G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11409C>T	4.37:g.187524130G>A		HNSCC(5;0.00058)					p.S3803S	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			20	11618	-			3803			EGF-like 1.			Silent	SNP	ENST00000441802.2	37	c.11409C>T	CCDS47177.1																																																																																				0.517	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		39	54	0	0	0	1	0	39	54				
TGM6	343641	broad.mit.edu	37	20	2413265	2413265	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2413265C>T	ENST00000202625.2	+	13	2158	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	699					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTTGTGATCGTCCATGTGG	0.567																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(2095-2097)atC>atT		transglutaminase 6	L-Glutamine(DB00130)						135.0	117.0	123.0					20																	2413265		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2413265C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.2097C>T	20.37:g.2413265C>T						TGM6_ENST00000381423.1_3'UTR	p.I699I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			13	2158	+			699					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.2097C>T	CCDS13025.1																																																																																				0.567	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		33	47	0	0	0	1	0	33	47				
CLIP3	25999	broad.mit.edu	37	19	36515309	36515309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36515309C>T	ENST00000360535.4	-	7	1134	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CLIP3_ENST00000593074.1_Missense_Mutation_p.D303N|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	303					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCTGGCCATCCAGCAGCACG	0.622																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(907-909)Gat>Aat		CAP-GLY domain containing linker protein 3							67.0	55.0	59.0					19																	36515309		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36515309C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.907G>A	19.37:g.36515309C>T	ENSP00000353732:p.Asp303Asn					CLIP3_ENST00000593074.1_Missense_Mutation_p.D303N|AC002116.7_ENST00000586962.1_RNA	p.D303N	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	1134	-	Esophageal squamous(110;0.162)		303					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.907G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185828	0.38609	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	D	0.91180	-2.8	5.74	4.71	0.59529	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.90796	0.7110	L	0.33189	0.99	0.58432	D	0.999999	D	0.65815	0.995	D	0.69307	0.963	D	0.87641	0.2522	10	0.17369	T	0.5	-10.0608	12.4581	0.55716	0.0:0.9188:0.0:0.0812	.	303	Q96DZ5	CLIP3_HUMAN	N	303;185;279	ENSP00000353732:D303N	ENSP00000353732:D303N	D	-	1	0	CLIP3	41207149	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.688000	0.61715	1.429000	0.47314	0.591000	0.81541	GAT		0.622	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		6	21	0	0	0	1	0	6	21				
TTN	7273	broad.mit.edu	37	2	179413090	179413090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179413090A>G	ENST00000591111.1	-	289	88564	c.88340T>C	c.(88339-88341)tTc>tCc	p.F29447S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F28520S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F31088S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22215S|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F22023S|TTN_ENST00000359218.5_Missense_Mutation_p.F22148S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29447	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACACGGAAATAGTACGG	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93262-93264)tTc>tCc		titin							233.0	230.0	231.0					2																	179413090		2036	4192	6228	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413090A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88340T>C	2.37:g.179413090A>G	ENSP00000465570:p.Phe29447Ser					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F22023S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F28520S|TTN_ENST00000359218.5_Missense_Mutation_p.F22148S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22215S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F29447S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.F31088S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93487	-			29447			Ig-like 139.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93263T>C		.	.	.	.	.	.	.	.	.	.	A	14.37	2.515848	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83963	0.5368	H	0.99325	4.515	0.50039	D	0.999843	D;D;D;D	0.58970	0.984;0.984;0.984;0.984	P;P;P;P	0.55303	0.773;0.773;0.773;0.773	D	0.89274	0.3607	9	0.87932	D	0	.	10.8104	0.46543	0.8244:0.0:0.0:0.1756	.	22023;22148;22215;29447	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28520;22023;22215;22148;22020	ENSP00000343764:F28520S;ENSP00000434586:F22023S;ENSP00000340554:F22215S;ENSP00000352154:F22148S	ENSP00000340554:F22215S	F	-	2	0	TTN	179121336	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.105000	0.77031	2.139000	0.66308	0.533000	0.62120	TTC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	151	0	0	0	1	0	15	151				
KPNA1	3836	broad.mit.edu	37	3	122170392	122170392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122170392C>A	ENST00000344337.6	-	8	918	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	248	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTTGCAAATTCTGGAGGTGGA	0.398																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(742-744)Gaa>Taa		karyopherin alpha 1 (importin alpha 5)							103.0	107.0	106.0					3																	122170392		2203	4300	6503	SO:0001587	stop_gained	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122170392C>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.742G>T	3.37:g.122170392C>A	ENSP00000343701:p.Glu248*					KPNA1_ENST00000466923.1_5'UTR	p.E248*	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	8	918	-			248			Binding to RAG1.		D3DN93|Q6IBQ9|Q9BQ56	Nonsense_Mutation	SNP	ENST00000344337.6	37	c.742G>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.838934	0.97009	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	.	.	.	4.81	4.81	0.61882	.	0.151816	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.9408	17.0429	0.86494	0.0:1.0:0.0:0.0	.	.	.	.	X	248	.	ENSP00000343701:E248X	E	-	1	0	KPNA1	123653082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.493000	0.84123	0.460000	0.39030	GAA		0.398	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		5	83	1	0	0.217242	1	0.218821	5	83				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100169	27100169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27100169T>C	ENST00000607124.1	-	1	360	c.361A>G	c.(361-363)Aag>Gag	p.K121E	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K121E|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K121E			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	121					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTGGTGTACTTGGTGACGGCC	0.562																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(361-363)Aag>Gag		histone cluster 1, H2bj							81.0	81.0	81.0					6																	27100169		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100169T>C	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.361A>G	6.37:g.27100169T>C	ENSP00000476136:p.Lys121Glu					HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K121E|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K121E	p.K121E			P06899	H2B1J_HUMAN			1	360	-			121					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.361A>G	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.358724	0.61403	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.46063	0.88;0.88	3.94	3.94	0.45596	Histone-fold (2);	0.000000	0.45361	U	0.000365	T	0.68091	0.2963	H	0.98818	4.34	0.44643	D	0.997629	D	0.76494	0.999	P	0.59487	0.858	T	0.80407	-0.1395	10	0.87932	D	0	.	11.4051	0.49894	0.0:0.0:0.0:1.0	.	121	P06899	H2B1J_HUMAN	E	121	ENSP00000445633:K121E;ENSP00000342886:K121E	ENSP00000342886:K121E	K	-	1	0	HIST1H2BJ	27208148	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	7.142000	0.77339	1.746000	0.51805	0.477000	0.44152	AAG		0.562	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		19	36	0	0	0	1	0	19	36				
SRRT	51593	broad.mit.edu	37	7	100485034	100485034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100485034G>A	ENST00000347433.4	+	16	2227	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	SRRT_ENST00000457580.2_Missense_Mutation_p.R690H|SRRT_ENST00000388793.4_Missense_Mutation_p.R689H|SRRT_ENST00000432932.1_Missense_Mutation_p.R689H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	690					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGATGGGGCGCAAAGACCCA	0.552																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2065-2067)cGc>cAc		serrate RNA effector molecule homolog (Arabidopsis)							111.0	106.0	108.0					7																	100485034		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485034G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2069G>A	7.37:g.100485034G>A	ENSP00000314491:p.Arg690His					SRRT_ENST00000432932.1_Missense_Mutation_p.R689H|SRRT_ENST00000347433.4_Missense_Mutation_p.R690H|SRRT_ENST00000457580.2_Missense_Mutation_p.R690H	p.R689H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			16	2286	+			690					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.2066G>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647866	0.67358	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	4.83	4.83	0.62350	Arsenite-resistance protein 2 (1);	0.057795	0.64402	D	0.000004	T	0.67078	0.2855	L	0.59436	1.845	0.51767	D	0.999938	D;D;D;D	0.89917	0.994;0.999;0.999;1.0	P;P;D;D	0.70935	0.579;0.871;0.95;0.971	T	0.63765	-0.6563	9	0.30078	T	0.28	.	8.9298	0.35663	0.1002:0.0:0.8998:0.0	.	689;689;690;690	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	H	690;689;55;689;690;320	.	ENSP00000344670:R55H	R	+	2	0	SRRT	100322970	0.410000	0.25376	0.915000	0.36163	0.575000	0.36095	3.229000	0.51278	2.500000	0.84329	0.297000	0.19635	CGC		0.552	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		54	31	0	0	0	1	0	54	31				
SEC24B	10427	broad.mit.edu	37	4	110431221	110431221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110431221C>T	ENST00000265175.5	+	8	1785	c.1730C>T	c.(1729-1731)gCt>gTt	p.A577V	SEC24B_ENST00000504968.2_Missense_Mutation_p.A607V|SEC24B_ENST00000399100.2_Missense_Mutation_p.A542V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	577					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGAATAAAGCTAAGCTTCCT	0.343																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1729-1731)gCt>gTt		SEC24 family member B							138.0	114.0	121.0					4																	110431221		1821	4088	5909	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110431221C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1730C>T	4.37:g.110431221C>T	ENSP00000265175:p.Ala577Val					SEC24B_ENST00000399100.2_Missense_Mutation_p.A542V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A607V	p.A577V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	8	1785	+		Hepatocellular(203;0.217)	577					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.1730C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656358	0.88056	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.22539	1.95;1.95;1.95	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.58101	1.795	0.80722	D	1	P;P;P;P;P	0.49185	0.92;0.797;0.843;0.902;0.843	B;B;B;B;B	0.43754	0.308;0.308;0.43;0.425;0.244	T	0.07009	-1.0795	10	0.87932	D	0	-20.3728	19.3451	0.94359	0.0:1.0:0.0:0.0	.	491;176;607;542;577	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	607;542;577	ENSP00000428564:A607V;ENSP00000382051:A542V;ENSP00000265175:A577V	ENSP00000265175:A577V	A	+	2	0	SEC24B	110650670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.625000	0.83145	2.575000	0.86900	0.563000	0.77884	GCT		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			13	24	0	0	0	1	0	13	24				
CHAC1	79094	broad.mit.edu	37	15	41247771	41247771	+	Silent	SNP	G	G	A	rs373929149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41247771G>A	ENST00000446533.3	+	3	903	c.594G>A	c.(592-594)gcG>gcA	p.A198A	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Silent_p.A153A	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	198					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGGGCCCTGCGCCTGAAGAGG	0.597																																						ENST00000446533.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(592-594)gcG>gcA		ChaC, cation transport regulator homolog 1 (E. coli)		G	,	0,4406		0,0,2203	110.0	104.0	106.0		459,594	-11.8	0.0	15		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CHAC1	NM_001142776.1,NM_024111.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	153/220,198/265	41247771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41247771G>A	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.594G>A	15.37:g.41247771G>A						CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Silent_p.A153A	p.A198A	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	903	+		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	198					Q0VIA0	Silent	SNP	ENST00000446533.3	37	c.594G>A	CCDS10070.2																																																																																				0.597	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		52	86	0	0	0	1	0	52	86				
NRXN3	9369	broad.mit.edu	37	14	79175605	79175605	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79175605G>T	ENST00000554719.1	+	4	639	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	NRXN3_ENST00000335750.5_Missense_Mutation_p.A50S|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCTCGCCTGGCCCGGATTGC	0.463																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(148-150)Gcc>Tcc		neurexin 3							86.0	87.0	87.0					14																	79175605		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175605G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.148G>T	14.37:g.79175605G>T	ENSP00000451648:p.Ala50Ser					NRXN3_ENST00000335750.5_Missense_Mutation_p.A50S|RP11-232C2.2_ENST00000555680.1_RNA	p.A50S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	639	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.148G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763694	0.89932	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.68181	-0.31;-0.31	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.057406	0.64402	D	0.000002	T	0.67683	0.2919	.	.	.	0.80722	D	1	P;B	0.44734	0.842;0.126	P;B	0.45037	0.467;0.26	T	0.66424	-0.5927	8	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	423;50	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	S	423;421;50;50	ENSP00000451648:A50S;ENSP00000338349:A50S	.	A	+	1	0	NRXN3	78245358	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.518000	0.84900	0.563000	0.77884	GCC		0.463	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		4	55	1	0	0.00024832	1	0.0002712	4	55				
C16orf62	57020	broad.mit.edu	37	16	19639072	19639072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19639072G>T	ENST00000251143.5	+	16	1340	c.1328G>T	c.(1327-1329)aGg>aTg	p.R443M	C16orf62_ENST00000543152.1_Missense_Mutation_p.R192M|C16orf62_ENST00000438132.3_Missense_Mutation_p.R532M|C16orf62_ENST00000417362.2_Missense_Mutation_p.R376M|C16orf62_ENST00000542263.1_Missense_Mutation_p.R465M|C16orf62_ENST00000448695.1_Missense_Mutation_p.R293M			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	443						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATCGCCACAAGGTCTATGGAT	0.483																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1594-1596)aGg>aTg		chromosome 16 open reading frame 62							197.0	176.0	183.0					16																	19639072		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19639072G>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1328G>T	16.37:g.19639072G>T	ENSP00000251143:p.Arg443Met					C16orf62_ENST00000543152.1_Missense_Mutation_p.R192M|C16orf62_ENST00000417362.2_Missense_Mutation_p.R376M|C16orf62_ENST00000251143.5_Missense_Mutation_p.R443M|C16orf62_ENST00000448695.1_Missense_Mutation_p.R293M|C16orf62_ENST00000542263.1_Missense_Mutation_p.R465M	p.R532M	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			16	1643	+			443					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.1595G>T		.	.	.	.	.	.	.	.	.	.	G	32	5.118969	0.94385	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.60021	-0.7344	9	.	.	.	-28.2708	19.9089	0.97019	0.0:0.0:1.0:0.0	.	465;443	F5H7K1;Q7Z3J2	.;CP062_HUMAN	M	532;465;443;376;293	ENSP00000400815:R532M;ENSP00000442468:R465M;ENSP00000251143:R443M;ENSP00000395973:R376M;ENSP00000398009:R293M	.	R	+	2	0	C16orf62	19546573	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	9.011000	0.93618	2.793000	0.96121	0.655000	0.94253	AGG		0.483	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		7	101	1	0	0.00307968	1	0.00325696	7	101				
SULF2	55959	broad.mit.edu	37	20	46318928	46318928	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46318928C>T	ENST00000359930.4	-	5	1530	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	SULF2_ENST00000361612.4_Missense_Mutation_p.G227S|SULF2_ENST00000484875.1_Missense_Mutation_p.G227S|SULF2_ENST00000467815.1_Missense_Mutation_p.G227S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	227					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCTCAGGGCCGTGGGGGGCT	0.567																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(679-681)Ggc>Agc		sulfatase 2							146.0	119.0	129.0					20																	46318928		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46318928C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.679G>A	20.37:g.46318928C>T	ENSP00000353007:p.Gly227Ser					SULF2_ENST00000484875.1_Missense_Mutation_p.G227S|SULF2_ENST00000361612.4_Missense_Mutation_p.G227S|SULF2_ENST00000467815.1_Missense_Mutation_p.G227S	p.G227S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			5	1530	-			227					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.679G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204483	0.79127	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	4.73	4.73	0.59995	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.156736	0.56097	D	0.000024	D	0.96426	0.8834	L	0.45137	1.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.984;0.979	D	0.96001	0.8993	10	0.40728	T	0.16	-23.6487	17.8763	0.88826	0.0:1.0:0.0:0.0	.	227;227;227	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	S	227	ENSP00000353007:G227S;ENSP00000418290:G227S;ENSP00000354662:G227S;ENSP00000418442:G227S	ENSP00000353007:G227S	G	-	1	0	SULF2	45752335	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	7.648000	0.83479	2.448000	0.82819	0.543000	0.68304	GGC		0.567	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		19	27	0	0	0	1	0	19	27				
C7	730	broad.mit.edu	37	5	40964872	40964872	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40964872A>C	ENST00000313164.9	+	14	2138	c.1779A>C	c.(1777-1779)aaA>aaC	p.K593N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	593	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CTGTGGGGAAAAATGTAGTGT	0.378																																						ENST00000313164.9																			0											c.(1777-1779)aaA>aaC		complement component 7							156.0	154.0	154.0					5																	40964872		1901	4122	6023	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40964872A>C	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1779A>C	5.37:g.40964872A>C	ENSP00000322061:p.Lys593Asn						p.K593N	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			14	2138	+		Ovarian(839;0.0112)	593			Sushi 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1779A>C	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039195	0.55003	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.64085	-0.08	6.04	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	0.365649	0.30483	N	0.009532	T	0.50769	0.1635	N	0.25647	0.755	0.35667	D	0.812976	B	0.30763	0.294	B	0.33890	0.172	T	0.58405	-0.7642	10	0.40728	T	0.16	-21.785	12.7509	0.57308	0.8769:0.0:0.0:0.1231	.	593	P10643	CO7_HUMAN	N	593;433	ENSP00000322061:K593N	ENSP00000322061:K593N	K	+	3	2	C7	41000629	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	3.234000	0.51320	1.084000	0.41184	0.460000	0.39030	AAA		0.378	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			26	49	0	0	0	1	0	26	49				
SEPT5	5413	broad.mit.edu	37	22	19709443	19709443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19709443G>A	ENST00000455784.2	+	10	1038	c.913G>A	c.(913-915)Gag>Aag	p.E305K	SEPT5_ENST00000383045.3_Missense_Mutation_p.E314K|SEPT5_ENST00000406395.1_Missense_Mutation_p.R301Q|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Missense_Mutation_p.R310Q	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	305	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGCACTACGAGAACTACCG	0.632																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(928-930)cGa>cAa		septin 5							55.0	48.0	51.0					22																	19709443		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709443G>A	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.913G>A	22.37:g.19709443G>A	ENSP00000391311:p.Glu305Lys					SEPT5_ENST00000455784.2_Missense_Mutation_p.E305K|SEPT5_ENST00000383045.3_Missense_Mutation_p.E314K|SEPT5_ENST00000406395.1_Missense_Mutation_p.R301Q	p.R310Q	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			9	1209	+	Colorectal(54;0.0993)		0					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.929G>A	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.285266|6.285266	0.97444|0.97444	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000455784;ENST00000412544;ENST00000383045|ENST00000406395;ENST00000438754	T;T;T|T;T	0.61510|0.53423	0.1;0.1;0.1|0.62;0.62	3.66|3.66	3.66|3.66	0.41972|0.41972	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76263|0.76263	0.3963|0.3963	H|H	0.95850|0.95850	3.73|3.73	0.33985|0.33985	D|D	0.648467|0.648467	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.87255|0.87255	0.2275|0.2275	10|7	0.87932|0.45353	D|T	0|0.12	.|.	15.9111|15.9111	0.79473|0.79473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	305|.	Q99719|.	SEPT5_HUMAN|.	K|Q	305;258;314|301;310	ENSP00000391311:E305K;ENSP00000408678:E258K;ENSP00000372515:E314K|ENSP00000384535:R301Q;ENSP00000394541:R310Q	ENSP00000372515:E314K|ENSP00000384535:R301Q	E|R	+|+	1|2	0|0	SEPT5|SEPT5	18089443|18089443	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	9.499000|9.499000	0.97975|0.97975	2.058000|2.058000	0.61347|0.61347	0.297000|0.297000	0.19635|0.19635	GAG|CGA		0.632	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		15	25	0	0	0	1	0	15	25				
LIMD1	8994	broad.mit.edu	37	3	45636938	45636938	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45636938G>A	ENST00000273317.4	+	1	588	c.567G>A	c.(565-567)aaG>aaA	p.K189K	LIMD1_ENST00000440097.1_Silent_p.K189K|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	189	Interaction with EGLN1/PHD2.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAAGCCCAAAGTGGGGTGACA	0.597																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(565-567)aaG>aaA		LIM domains containing 1							89.0	85.0	87.0					3																	45636938		2203	4300	6503	SO:0001819	synonymous_variant	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636938G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.567G>A	3.37:g.45636938G>A						LIMD1_ENST00000440097.1_Silent_p.K189K|LIMD1_ENST00000465039.1_Intron	p.K189K	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	588	+			189					Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	ENST00000273317.4	37	c.567G>A	CCDS2729.1																																																																																				0.597	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		7	61	0	0	0	1	0	7	61				
BAGE2	85319	broad.mit.edu	37	21	11049593	11049593	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11049593G>A	ENST00000470054.1	-	0	515							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGGGCTGTCGCACACTGCAC	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							74.0	59.0	64.0					21																	11049593		692	1591	2283			85319							g.chr21:11049593G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049593G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	515	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		14	191	0	0	0	1	0	14	191				
DMXL1	1657	broad.mit.edu	37	5	118503347	118503347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118503347G>A	ENST00000311085.8	+	23	5266	c.5186G>A	c.(5185-5187)aGa>aAa	p.R1729K	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1729K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1729										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAATAGCAAGACTCTATGAG	0.318																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(5185-5187)aGa>aAa		Dmx-like 1							45.0	46.0	45.0					5																	118503347		2202	4299	6501	SO:0001583	missense	1657							g.chr5:118503347G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5186G>A	5.37:g.118503347G>A	ENSP00000309690:p.Arg1729Lys					DMXL1_ENST00000539542.1_Missense_Mutation_p.R1729K	p.R1729K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	5266	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1729						Missense_Mutation	SNP	ENST00000311085.8	37	c.5186G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565408	0.96527	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.70399	-0.48;-0.48	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87264	0.2281	10	0.62326	D	0.03	-19.983	20.1996	0.98256	0.0:0.0:1.0:0.0	.	1729;1729	F5H269;Q9Y485	.;DMXL1_HUMAN	K	1729	ENSP00000309690:R1729K;ENSP00000439479:R1729K	ENSP00000309690:R1729K	R	+	2	0	DMXL1	118531246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.776000	0.95493	0.650000	0.86243	AGA		0.318	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		9	21	0	0	0	1	0	9	21				
OR5B17	219965	broad.mit.edu	37	11	58126179	58126179	+	Missense_Mutation	SNP	C	C	T	rs372264787		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58126179C>T	ENST00000357377.3	-	1	363	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A122T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACACTGCTGCGTAGCGGTCA	0.478																																						ENST00000357377.3																			1	Substitution - Missense(1)	p.A122T(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(364-366)Gca>Aca		olfactory receptor, family 5, subfamily B, member 17		C	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	122.0	110.0	114.0		364	1.4	0.0	11		114	3,8587	3.0+/-9.4	0,3,4292	no	missense	OR5B17	NM_001005489.1	58	0,4,6492	TT,TC,CC		0.0349,0.0227,0.0308	benign	122/315	58126179	4,12988	2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126179C>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.364G>A	11.37:g.58126179C>T	ENSP00000349945:p.Ala122Thr						p.A122T	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	363	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	122					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.364G>A	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	11.79	1.743809	0.30865	2.27E-4	3.49E-4	ENSG00000197786	ENST00000357377	T	0.00402	7.56	3.6	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	1.037490	0.07744	N	0.947442	T	0.00328	0.0010	L	0.48174	1.505	0.09310	N	1	P	0.44776	0.843	B	0.34536	0.185	T	0.50808	-0.8784	10	0.56958	D	0.05	-0.0087	7.6295	0.28230	0.0:0.7521:0.0:0.2479	.	122	Q8NGF7	OR5BH_HUMAN	T	122	ENSP00000349945:A122T	ENSP00000349945:A122T	A	-	1	0	OR5B17	57882755	0.000000	0.05858	0.008000	0.14137	0.610000	0.37248	-0.861000	0.04268	0.082000	0.17018	0.461000	0.40582	GCA		0.478	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		4	53	0	0	0	1	0	4	53				
CLHC1	130162	broad.mit.edu	37	2	55408813	55408813	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55408813A>G	ENST00000401408.1	-	10	1419	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	CLHC1_ENST00000406076.1_Silent_p.S236S|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Silent_p.S358S|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	358																	GAAAAGCATGACTTGTGATAA	0.373																																						ENST00000401408.1																			0											c.(1072-1074)agT>agC		clathrin heavy chain linker domain containing 1							75.0	72.0	73.0					2																	55408813		2203	4300	6503	SO:0001819	synonymous_variant	130162							g.chr2:55408813A>G		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1074T>C	2.37:g.55408813A>G						CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Silent_p.S358S|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Silent_p.S236S	p.S358S	NM_152385.2	NP_689598.2					10	1419	-								B2RDV1|Q53R93|Q8N403	Silent	SNP	ENST00000401408.1	37	c.1074T>C	CCDS33201.1																																																																																				0.373	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		19	32	0	0	0	1	0	19	32				
DEF8	54849	broad.mit.edu	37	16	90025469	90025469	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025469C>T	ENST00000268676.7	+	6	692	c.603C>T	c.(601-603)cgC>cgT	p.R201R	DEF8_ENST00000418391.2_Silent_p.R140R|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Silent_p.R140R|DEF8_ENST00000570182.1_Silent_p.R130R|DEF8_ENST00000569453.1_Silent_p.R140R|DEF8_ENST00000567874.1_Silent_p.R80R|DEF8_ENST00000563594.1_Silent_p.R140R	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	201					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTGAGCACCGCTTTTACAAGG	0.562																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(418-420)cgC>cgT		differentially expressed in FDCP 8 homolog (mouse)							124.0	119.0	121.0					16																	90025469		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90025469C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.603C>T	16.37:g.90025469C>T						DEF8_ENST00000268676.7_Silent_p.R201R|DEF8_ENST00000563795.1_Silent_p.R140R|DEF8_ENST00000570182.1_Silent_p.R130R|DEF8_ENST00000418391.2_Silent_p.R140R|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Silent_p.R140R|DEF8_ENST00000567874.1_Silent_p.R80R	p.R140R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	6	1417	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	201					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.420C>T	CCDS10989.1																																																																																				0.562	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		8	123	0	0	0	1	0	8	123				
GPR141	353345	broad.mit.edu	37	7	37780630	37780630	+	Missense_Mutation	SNP	G	G	A	rs369757172		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37780630G>A	ENST00000447769.1	+	4	924	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R212H			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGAAGCTACGCCACTCTTTA	0.413																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(634-636)cGc>cAc		G protein-coupled receptor 141							201.0	191.0	194.0					7																	37780630		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780630G>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.635G>A	7.37:g.37780630G>A	ENSP00000390410:p.Arg212His					GPR141_ENST00000334425.1_Missense_Mutation_p.R212H|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron	p.R212H			Q7Z602	GP141_HUMAN			4	924	+			212					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.635G>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	9.100	1.003965	0.19199	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.42513	0.97;0.97	5.01	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.782116	0.12028	N	0.506222	T	0.33177	0.0854	L	0.54323	1.7	0.09310	N	1	B	0.27351	0.176	B	0.20767	0.031	T	0.26503	-1.0101	10	0.46703	T	0.11	-0.6095	4.5848	0.12277	0.3331:0.152:0.5149:0.0	.	212	Q7Z602	GP141_HUMAN	H	212	ENSP00000390410:R212H;ENSP00000334540:R212H	ENSP00000334540:R212H	R	+	2	0	GPR141	37747155	0.002000	0.14202	0.003000	0.11579	0.825000	0.46686	1.345000	0.33953	0.409000	0.25649	0.655000	0.94253	CGC		0.413	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		49	149	0	0	0	1	0	49	149				
WBSCR22	114049	broad.mit.edu	37	7	73108321	73108321	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73108321G>T	ENST00000265758.2	+	10	700		c.e10-1		WBSCR22_ENST00000423166.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCTGCAGGGGCTGAGTG	0.587																																						ENST00000423166.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13						c.e8-1		Williams Beuren syndrome chromosome region 22							100.0	97.0	98.0					7																	73108321		2203	4300	6503	SO:0001630	splice_region_variant	114049					nucleus	methyltransferase activity	g.chr7:73108321G>T	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.643-1G>T	7.37:g.73108321G>T						WBSCR22_ENST00000265758.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site				O43709	WBS22_HUMAN			8	564	+		Lung NSC(55;0.0908)|all_lung(88;0.198)						A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Splice_Site	SNP	ENST00000265758.2	37		CCDS5557.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131012	0.37630	.	.	ENSG00000071462	ENST00000265758;ENST00000423497	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7354	0.57220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBSCR22	72746257	1.000000	0.71417	0.990000	0.47175	0.655000	0.38815	3.002000	0.49496	2.487000	0.83934	0.467000	0.42956	.		0.587	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		Intron	5	66	1	0	0.184627	1	0.186383	5	66				
TPD52	7163	broad.mit.edu	37	8	80950356	80950356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80950356G>T	ENST00000379097.3	-	6	1032	c.670C>A	c.(670-672)Ctg>Atg	p.L224M	TPD52_ENST00000517427.1_Missense_Mutation_p.L233M|TPD52_ENST00000379096.5_Missense_Mutation_p.L184M|TPD52_ENST00000518937.1_Missense_Mutation_p.L207M|TPD52_ENST00000519303.2_Missense_Mutation_p.L60M|TPD52_ENST00000520527.1_Missense_Mutation_p.L247M|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000448733.2_Missense_Mutation_p.L238M|TPD52_ENST00000523395.1_5'UTR	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	224					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GAATCTCACAGGCTCTCCTGT	0.498																																						ENST00000379096.5																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(550-552)Ctg>Atg		tumor protein D52							168.0	131.0	144.0					8																	80950356		2203	4300	6503	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80950356G>T	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.670C>A	8.37:g.80950356G>T	ENSP00000368391:p.Leu224Met					TPD52_ENST00000518937.1_Missense_Mutation_p.L207M|TPD52_ENST00000448733.2_Missense_Mutation_p.L238M|TPD52_ENST00000517427.1_Missense_Mutation_p.L233M|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000520527.1_Missense_Mutation_p.L247M|TPD52_ENST00000379097.3_Missense_Mutation_p.L224M|TPD52_ENST00000519303.2_Missense_Mutation_p.L60M	p.L184M	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		6	664	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	224					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.550C>A	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100730	0.76983	.	.	ENSG00000076554	ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000379097;ENST00000425513;ENST00000519303	T;T;T;T;T;T	0.27256	1.74;1.68;1.68;1.72;1.71;1.71	5.49	5.49	0.81192	.	0.776607	0.10997	N	0.610883	T	0.46347	0.1388	L	0.36672	1.1	0.80722	D	1	B;D;B	0.65815	0.32;0.995;0.162	B;D;B	0.72982	0.176;0.979;0.121	T	0.30268	-0.9984	10	0.59425	D	0.04	.	19.5755	0.95441	0.0:0.0:1.0:0.0	.	184;207;224	P55327-2;E5RKB4;P55327	.;.;TPD52_HUMAN	M	184;207;247;233;238;224;184;60	ENSP00000368390:L184M;ENSP00000429915:L207M;ENSP00000429309:L247M;ENSP00000429351:L233M;ENSP00000410222:L238M;ENSP00000368391:L224M	ENSP00000368390:L184M	L	-	1	2	TPD52	81112911	1.000000	0.71417	0.698000	0.30274	0.997000	0.91878	4.985000	0.63845	2.865000	0.98341	0.655000	0.94253	CTG		0.498	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		10	101	1	0	3.86212e-05	1	4.30401e-05	10	101				
FLG	2312	broad.mit.edu	37	1	152275432	152275432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152275432C>T	ENST00000368799.1	-	3	11965	c.11930G>A	c.(11929-11931)gGc>gAc	p.G3977D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3977					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGCCATGTCTCCA	0.418									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11929-11931)gGc>gAc		filaggrin							146.0	130.0	136.0					1																	152275432		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275432C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11930G>A	1.37:g.152275432C>T	ENSP00000357789:p.Gly3977Asp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3977D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11965	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3977					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11930G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485272	0.44147	.	.	ENSG00000143631	ENST00000368799	T	0.01613	4.73	4.02	3.1	0.35709	.	.	.	.	.	T	0.01421	0.0046	L	0.36672	1.1	0.23991	N	0.996249	D	0.56968	0.978	P	0.57679	0.825	T	0.54050	-0.8351	9	0.38643	T	0.18	.	7.5578	0.27835	0.0:0.8813:0.0:0.1187	.	3977	P20930	FILA_HUMAN	D	3977	ENSP00000357789:G3977D	ENSP00000357789:G3977D	G	-	2	0	FLG	150542056	0.969000	0.33509	0.996000	0.52242	0.962000	0.63368	1.481000	0.35476	0.998000	0.38996	0.650000	0.86243	GGC		0.418	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		81	101	0	0	0	1	0	81	101				
YY1AP1	55249	broad.mit.edu	37	1	155649258	155649258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649258C>A	ENST00000295566.4	-	4	288	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	YY1AP1_ENST00000368340.5_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000405763.3_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.E23*|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000438245.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000476093.1_5'UTR	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	89					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCTCCTCTTCTGGGCCATCA	0.493																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(481-483)Gaa>Taa		YY1 associated protein 1							136.0	113.0	121.0					1																	155649258		2203	4300	6503	SO:0001587	stop_gained	55249							g.chr1:155649258C>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.265G>T	1.37:g.155649258C>A	ENSP00000295566:p.Glu89*					YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.E89*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000438245.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000405763.3_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.E12*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.E23*	p.E161*	NM_001198904.1	NP_001185833.1					3	589	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Nonsense_Mutation	SNP	ENST00000295566.4	37	c.481G>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	C	35	5.557775	0.96514	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	.	.	.	3.18	2.22	0.28083	.	0.123421	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.1495	0.42784	0.0:0.8935:0.0:0.1065	.	.	.	.	X	12;23;12;23;12;161;89;23;12;23;161;161;23;12;23	.	ENSP00000295566:E89X	E	-	1	0	YY1AP1	153915882	0.988000	0.35896	1.000000	0.80357	0.661000	0.39034	3.210000	0.51129	1.589000	0.49982	0.305000	0.20034	GAA		0.493	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		24	63	1	0	4.7796e-09	1	5.77107e-09	24	63				
LRP1	4035	broad.mit.edu	37	12	57605281	57605281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57605281G>A	ENST00000243077.3	+	85	13569	c.13103G>A	c.(13102-13104)gGc>gAc	p.G4368D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4368	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCACGGATGGCCGGGTGGCC	0.647																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13102-13104)gGc>gAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						40.0	44.0	43.0					12																	57605281		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605281G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13103G>A	12.37:g.57605281G>A	ENSP00000243077:p.Gly4368Asp						p.G4368D	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	85	13569	+			4368			EGF-like 21.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13103G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.315154	0.60524	.	.	ENSG00000123384	ENST00000243077	T	0.13307	2.6	4.08	4.08	0.47627	.	0.000000	0.56097	D	0.000038	T	0.16727	0.0402	M	0.64997	1.995	0.80722	D	1	B	0.33694	0.421	B	0.29942	0.109	T	0.06552	-1.0820	10	0.66056	D	0.02	.	15.2157	0.73264	0.0:0.0:1.0:0.0	.	4368	Q07954	LRP1_HUMAN	D	4368	ENSP00000243077:G4368D	ENSP00000243077:G4368D	G	+	2	0	LRP1	55891548	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	6.991000	0.76232	2.113000	0.64589	0.457000	0.33378	GGC		0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	32	0	0	0	1	0	4	32				
SCARA5	286133	broad.mit.edu	37	8	27737199	27737199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27737199C>T	ENST00000354914.3	-	8	1723	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R188H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	413	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGTGCCCCAACGCCGGTCGTG	0.667																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1237-1239)cGt>cAt		scavenger receptor class A, member 5 (putative)							104.0	85.0	92.0					8																	27737199		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737199C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1238G>A	8.37:g.27737199C>T	ENSP00000346990:p.Arg413His					SCARA5_ENST00000380385.2_Missense_Mutation_p.R188H	p.R413H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1723	-		Ovarian(32;0.0218)	413			SRCR.		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1238G>A	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853881	0.71719	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.37411	1.2;1.2	4.87	4.87	0.63330	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.067490	0.64402	D	0.000011	T	0.51991	0.1707	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.955;0.989	T	0.50415	-0.8831	10	0.49607	T	0.09	.	15.8518	0.78937	0.0:1.0:0.0:0.0	.	188;413	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	413;188	ENSP00000346990:R413H;ENSP00000369746:R188H	ENSP00000346990:R413H	R	-	2	0	SCARA5	27793118	0.990000	0.36364	0.999000	0.59377	0.984000	0.73092	1.142000	0.31540	2.406000	0.81754	0.591000	0.81541	CGT		0.667	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		27	36	0	0	0	1	0	27	36				
FBXO31	79791	broad.mit.edu	37	16	87369043	87369043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87369043C>T	ENST00000311635.7	-	7	875	c.863G>A	c.(862-864)cGc>cAc	p.R288H	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	288					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGGTAGATGCGGCGGTAGGT	0.637																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(862-864)cGc>cAc		F-box protein 31							67.0	54.0	58.0					16																	87369043		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87369043C>T	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.863G>A	16.37:g.87369043C>T	ENSP00000310841:p.Arg288His						p.R288H	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	7	875	-			288					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.863G>A	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134490	0.94517	.	.	ENSG00000103264	ENST00000311635	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.72093	-0.4394	9	0.87932	D	0	-17.767	18.4394	0.90660	0.0:1.0:0.0:0.0	.	288;180	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	H	288	.	ENSP00000310841:R288H	R	-	2	0	FBXO31	85926544	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.637000	0.83313	2.368000	0.80403	0.561000	0.74099	CGC		0.637	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		7	17	0	0	0	1	0	7	17				
C2orf71	388939	broad.mit.edu	37	2	29296260	29296260	+	Missense_Mutation	SNP	C	C	T	rs376703307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29296260C>T	ENST00000331664.5	-	1	867	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	290					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGAAGCTGCCGGTGAGCGAG	0.557																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(868-870)Ggc>Agc		chromosome 2 open reading frame 71		C	SER/GLY	0,4150		0,0,2075	75.0	80.0	79.0		868	-2.9	0.0	2		79	1,8435		0,1,4217	no	missense	C2orf71	NM_001029883.1	56	0,1,6292	TT,TC,CC		0.0119,0.0,0.0079	benign	290/1289	29296260	1,12585	2075	4218	6293	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296260C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.868G>A	2.37:g.29296260C>T	ENSP00000332809:p.Gly290Ser						p.G290S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	867	-			290						Missense_Mutation	SNP	ENST00000331664.5	37	c.868G>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.014298	0.00422	0.0	1.19E-4	ENSG00000179270	ENST00000331664	T	0.16897	2.31	5.62	-2.92	0.05615	.	1.083630	0.06910	N	0.807540	T	0.07369	0.0186	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41070	-0.9529	10	0.07030	T	0.85	-2.1208	7.0812	0.25231	0.1771:0.3354:0.0:0.4875	.	290	A6NGG8	CB071_HUMAN	S	290	ENSP00000332809:G290S	ENSP00000332809:G290S	G	-	1	0	C2orf71	29149764	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.242000	0.08928	-0.911000	0.03843	-1.300000	0.01332	GGC		0.557	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		34	59	0	0	0	1	0	34	59				
DOPEY2	9980	broad.mit.edu	37	21	37618224	37618224	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618224A>G	ENST00000399151.3	+	19	4031	c.3946A>G	c.(3946-3948)Acc>Gcc	p.T1316A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1316					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGCTGCTCACCTACCTCTG	0.597																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3946-3948)Acc>Gcc		dopey family member 2							116.0	116.0	116.0					21																	37618224		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618224A>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3946A>G	21.37:g.37618224A>G	ENSP00000382104:p.Thr1316Ala						p.T1316A	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	4031	+			1316					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3946A>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.257124	0.39896	.	.	ENSG00000142197	ENST00000399151	T	0.41400	1.0	4.62	4.62	0.57501	.	0.298149	0.36778	N	0.002417	T	0.46092	0.1375	M	0.68317	2.08	0.41351	D	0.987365	P;P	0.42692	0.787;0.682	B;B	0.42522	0.39;0.218	T	0.53265	-0.8463	10	0.54805	T	0.06	.	14.3435	0.66643	1.0:0.0:0.0:0.0	.	1316;1316	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	A	1316	ENSP00000382104:T1316A	ENSP00000382104:T1316A	T	+	1	0	DOPEY2	36540094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.882000	0.56160	1.863000	0.54032	0.533000	0.62120	ACC		0.597	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		40	74	0	0	0	1	0	40	74				
CUL4B	8450	broad.mit.edu	37	X	119674287	119674287	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119674287G>T	ENST00000404115.3	-	13	2029	c.1628C>A	c.(1627-1629)gCc>gAc	p.A543D	CUL4B_ENST00000371322.5_Missense_Mutation_p.A525D|CUL4B_ENST00000336592.6_Missense_Mutation_p.A530D	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	543					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCATGGCATTGATAAA	0.313																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1573-1575)gCc>gAc		cullin 4B							137.0	122.0	127.0					X																	119674287		2202	4297	6499	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119674287G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1628C>A	X.37:g.119674287G>T	ENSP00000384109:p.Ala543Asp					CUL4B_ENST00000404115.3_Missense_Mutation_p.A543D|CUL4B_ENST00000336592.6_Missense_Mutation_p.A530D	p.A525D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			11	1635	-			543					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1574C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310804	0.40895	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.80033	-1.33;-1.33;-1.33	5.6	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.049151	0.85682	D	0.000000	D	0.88800	0.6535	M	0.86343	2.81	0.58432	D	0.999999	B;D;P	0.63046	0.182;0.992;0.871	B;P;P	0.59761	0.149;0.863;0.689	D	0.89535	0.3788	9	.	.	.	-6.968	12.8965	0.58101	0.08:0.0:0.92:0.0	.	347;543;525	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	D	525;530;543	ENSP00000360373:A525D;ENSP00000338919:A530D;ENSP00000384109:A543D	.	A	-	2	0	CUL4B	119558315	1.000000	0.71417	0.997000	0.53966	0.004000	0.04260	7.824000	0.86668	1.136000	0.42199	-0.344000	0.07964	GCC		0.313	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		26	45	1	0	1.5548e-18	1	2.02858e-18	26	45				
EML2	24139	broad.mit.edu	37	19	46142120	46142120	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46142120T>G	ENST00000245925.3	-	2	82	c.32A>C	c.(31-33)gAa>gCa	p.E11A	AC006132.1_ENST00000593161.1_5'Flank|EML2_ENST00000536630.1_Missense_Mutation_p.E158A|EML2_ENST00000587152.1_Missense_Mutation_p.E212A|MIR330_ENST00000362196.1_RNA|EML2_ENST00000589876.1_Missense_Mutation_p.E11A	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	11	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAAGATAACTTCTTTGGTTTT	0.522																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(472-474)gAa>gCa		echinoderm microtubule associated protein like 2							85.0	88.0	87.0					19																	46142120		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46142120T>G	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.32A>C	19.37:g.46142120T>G	ENSP00000245925:p.Glu11Ala					EML2_ENST00000589876.1_Missense_Mutation_p.E11A|EML2_ENST00000587152.1_Missense_Mutation_p.E212A|EML2_ENST00000245925.3_Missense_Mutation_p.E11A	p.E158A	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	5	611	-		Ovarian(192;0.179)|all_neural(266;0.224)	11					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.473A>C	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346085	0.61073	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.28895	1.59;1.76;2.69	4.5	4.5	0.54988	.	0.718773	0.12753	N	0.442060	T	0.28863	0.0716	L	0.54323	1.7	0.46416	D	0.99903	B;P;B;P;B	0.48911	0.215;0.761;0.435;0.917;0.038	B;B;B;B;B	0.41332	0.146;0.354;0.057;0.214;0.022	T	0.10428	-1.0630	10	0.56958	D	0.05	-7.3481	7.595	0.28044	0.1898:0.0:0.0:0.8102	.	11;177;158;169;11	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	A	158;11;212;169	ENSP00000442365:E158A;ENSP00000245925:E11A;ENSP00000382503:E169A	ENSP00000245925:E11A	E	-	2	0	EML2	50833960	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.027000	0.57239	2.018000	0.59344	0.482000	0.46254	GAA		0.522	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		26	42	0	0	0	1	0	26	42				
MTUS2	23281	broad.mit.edu	37	13	29608054	29608054	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29608054T>A	ENST00000431530.3	+	2	2326	c.2268T>A	c.(2266-2268)tgT>tgA	p.C756*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	746	Mediates interaction with MAPRE1.					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						AAGAGTTTTGTTCTCCTCCCT	0.443																																						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.(2266-2268)tgT>tgA		microtubule associated tumor suppressor candidate 2							85.0	82.0	83.0					13																	29608054		1914	4133	6047	SO:0001587	stop_gained	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608054T>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.2268T>A	13.37:g.29608054T>A	ENSP00000392057:p.Cys756*						p.C756*	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			2	2326	+			746			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	ENST00000431530.3	37	c.2268T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	T	35	5.515825	0.96402	.	.	ENSG00000132938	ENST00000431530	.	.	.	5.46	-5.5	0.02576	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0527	0.80774	0.0:0.5885:0.0:0.4115	.	.	.	.	X	756	.	.	C	+	3	2	MTUS2	28506054	0.992000	0.36948	0.874000	0.34290	0.042000	0.13812	0.050000	0.14120	-1.084000	0.03092	-1.151000	0.01829	TGT		0.443	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		11	19	0	0	0	1	0	11	19				
ABCC11	85320	broad.mit.edu	37	16	48218469	48218469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48218469G>A	ENST00000394747.1	-	22	3489	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ABCC11_ENST00000394748.1_Missense_Mutation_p.A1047V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1047V|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1047V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1047	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CAGCCTCAATGCCATCCATCG	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3139-3141)gCa>gTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							198.0	164.0	176.0					16																	48218469		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218469G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3140C>T	16.37:g.48218469G>A	ENSP00000378230:p.Ala1047Val					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1047V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1047V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1047V	p.A1047V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3489	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1047			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3140C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765991	0.90020	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.45	5.45	0.79879	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.563219	0.18496	N	0.139511	D	0.93772	0.8009	M	0.75085	2.285	0.80722	D	1	P;D	0.53151	0.925;0.958	P;D	0.66979	0.536;0.948	D	0.93879	0.7169	10	0.72032	D	0.01	-0.53	14.7981	0.69891	0.0:0.0:1.0:0.0	.	1047;1047	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	1047	ENSP00000311326:A1047V;ENSP00000349017:A1047V;ENSP00000378231:A1047V;ENSP00000378230:A1047V	ENSP00000311326:A1047V	A	-	2	0	ABCC11	46775970	0.404000	0.25328	0.005000	0.12908	0.243000	0.25628	3.710000	0.54860	2.555000	0.86185	0.563000	0.77884	GCA		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	89	0	0	0	1	0	6	89				
DNAH17	8632	broad.mit.edu	37	17	76455116	76455116	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76455116T>C	ENST00000585328.1	-	61	9937	c.9813A>G	c.(9811-9813)caA>caG	p.Q3271Q	DNAH17_ENST00000389840.5_Silent_p.Q3262Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3262	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGCTTCTCTTGTGCCTCTG	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9784-9786)caA>caG		dynein, axonemal, heavy chain 17							110.0	102.0	105.0					17																	76455116		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76455116T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9813A>G	17.37:g.76455116T>C						DNAH17_ENST00000585328.1_Silent_p.Q3271Q|DNAH17_ENST00000586052.1_5'UTR	p.Q3262Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		61	9910	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9786A>G																																																																																					0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	88	0	0	0	1	0	4	88				
ORC3	23595	broad.mit.edu	37	6	88317493	88317493	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88317493C>T	ENST00000392844.3	+	6	578	c.530C>T	c.(529-531)aCa>aTa	p.T177I	ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.T124I|ORC3_ENST00000257789.4_Missense_Mutation_p.T177I|ORC3_ENST00000546266.1_Missense_Mutation_p.T34I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	177					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAAAGAAAGACACATTATTCA	0.363																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(529-531)aCa>aTa		origin recognition complex, subunit 3							131.0	118.0	122.0					6																	88317493		2203	4299	6502	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88317493C>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.530C>T	6.37:g.88317493C>T	ENSP00000376586:p.Thr177Ile					ORC3_ENST00000417380.2_Missense_Mutation_p.T124I|ORC3_ENST00000546266.1_Missense_Mutation_p.T34I|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.T177I	p.T177I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			6	578	+			177					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.530C>T	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	5.793	0.330583	0.10956	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.82	1.09	0.20402	.	0.688594	0.15762	N	0.245863	T	0.02571	0.0078	L	0.35414	1.06	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.17433	0.011;0.018;0.002;0.001	T	0.42699	-0.9436	10	0.37606	T	0.19	-0.8144	2.3326	0.04239	0.3927:0.2535:0.0:0.3538	.	177;177;177;177	B7ZAI3;B7Z8A5;Q9UBD5;Q9UBD5-2	.;.;ORC3_HUMAN;.	I	177;177;34;124	ENSP00000376586:T177I;ENSP00000257789:T177I;ENSP00000444695:T34I;ENSP00000390176:T124I	ENSP00000257789:T177I	T	+	2	0	ORC3	88374212	0.009000	0.17119	0.110000	0.21437	0.379000	0.30106	0.771000	0.26633	0.280000	0.22209	0.585000	0.79938	ACA		0.363	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			22	40	0	0	0	1	0	22	40				
DMXL1	1657	broad.mit.edu	37	5	118484689	118484689	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484689G>A	ENST00000311085.8	+	18	3247	c.3167G>A	c.(3166-3168)cGt>cAt	p.R1056H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATACAAATCGTTTAGCAGTA	0.403																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(3166-3168)cGt>cAt		Dmx-like 1							159.0	155.0	156.0					5																	118484689		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484689G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3167G>A	5.37:g.118484689G>A	ENSP00000309690:p.Arg1056His					DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056H	p.R1056H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3247	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1056						Missense_Mutation	SNP	ENST00000311085.8	37	c.3167G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145553	0.77888	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.38722	1.12;1.12	5.5	5.5	0.81552	.	0.048502	0.85682	D	0.000000	T	0.70133	0.3189	M	0.84948	2.725	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.961	T	0.74460	-0.3658	10	0.87932	D	0	-14.7341	19.7739	0.96383	0.0:0.0:1.0:0.0	.	1056;1056	F5H269;Q9Y485	.;DMXL1_HUMAN	H	1056	ENSP00000309690:R1056H;ENSP00000439479:R1056H	ENSP00000309690:R1056H	R	+	2	0	DMXL1	118512588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	CGT		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		62	100	0	0	0	1	0	62	100				
THSD7B	80731	broad.mit.edu	37	2	137814102	137814102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814102C>T	ENST00000409968.1	+	3	430	c.252C>T	c.(250-252)agC>agT	p.S84S	THSD7B_ENST00000272643.3_Silent_p.S84S|THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000413152.2_Silent_p.S53S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	84	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGTGAGAGCAACAGGCCTC	0.532																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(250-252)agC>agT		thrombospondin, type I, domain containing 7B							82.0	91.0	88.0					2																	137814102		2035	4205	6240	SO:0001819	synonymous_variant	80731							g.chr2:137814102C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.252C>T	2.37:g.137814102C>T						THSD7B_ENST00000272643.3_Silent_p.S84S|THSD7B_ENST00000413152.2_Silent_p.S53S	p.S84S						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	430	+									Silent	SNP	ENST00000409968.1	37	c.252C>T																																																																																					0.532	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		16	21	0	0	0	1	0	16	21				
PIPOX	51268	broad.mit.edu	37	17	27382238	27382238	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27382238C>T	ENST00000323372.4	+	6	1291	c.965C>T	c.(964-966)aCg>aTg	p.T322M	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	322					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGCATGTACACGGTAAGGGGT	0.572																																						ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.e6+1		pipecolic acid oxidase	Glycine(DB00145)						120.0	106.0	110.0					17																	27382238		2203	4300	6503	SO:0001630	splice_region_variant	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27382238C>T	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.966+1C>T	17.37:g.27382238C>T						PIPOX_ENST00000583215.1_3'UTR	p.T322_splice	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		6	1291	+	Lung NSC(42;0.015)		322					B3KNH0|Q96H28|Q9C070	Splice_Site	SNP	ENST00000323372.4	37	c.966_splice	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899964	0.92035	.	.	ENSG00000179761	ENST00000323372	D	0.81821	-1.54	5.87	5.87	0.94306	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94546	0.7749	10	0.87932	D	0	-15.1568	18.9818	0.92757	0.0:1.0:0.0:0.0	.	322	Q9P0Z9	SOX_HUMAN	M	322	ENSP00000317721:T322M	ENSP00000317721:T322M	T	+	2	0	PIPOX	24406364	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.569000	0.73992	2.780000	0.95670	0.563000	0.77884	ACG		0.572	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	Missense_Mutation	8	96	0	0	0	1	0	8	96				
UPRT	139596	broad.mit.edu	37	X	74513320	74513320	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74513320G>T	ENST00000373383.4	+	2	567	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	UPRT_ENST00000373379.1_Missense_Mutation_p.G134C|UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000530743.1_5'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	134					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGCCAGTAGAGGTGACTTCAT	0.343																																						ENST00000373379.1																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						c.(400-402)Ggt>Tgt		uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)							208.0	190.0	196.0					X																	74513320		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74513320G>T	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.400G>T	X.37:g.74513320G>T	ENSP00000362481:p.Gly134Cys					UPRT_ENST00000530743.1_5'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.G134C|UPRT_ENST00000531704.1_3'UTR	p.G134C			Q96BW1	UPP_HUMAN			2	565	+			134					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.400G>T	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262956	0.80358	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	D;D	0.91464	-2.85;-2.85	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.982;0.982	D	0.96176	0.9127	10	0.87932	D	0	-18.3814	17.4832	0.87680	0.0:0.0:1.0:0.0	.	134;134;134	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	C	134	ENSP00000362481:G134C;ENSP00000362477:G134C	ENSP00000362477:G134C	G	+	1	0	UPRT	74430045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.240000	0.72363	2.343000	0.79666	0.513000	0.50165	GGT		0.343	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		77	153	1	0	2.93434e-44	1	3.96179e-44	77	153				
NBPF10	100132406	broad.mit.edu	37	1	145368641	145368641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145368641G>A	ENST00000369339.3	+	17	2226	c.1973G>A	c.(1972-1974)aGt>aAt	p.S658N	NBPF10_ENST00000369338.1_Missense_Mutation_p.S656N|NBPF10_ENST00000342960.5_Missense_Mutation_p.S3540N			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	0	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACGGTGACAAGTCTCCACCTG	0.463																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10618-10620)aGt>aAt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145368641G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1973G>A	1.37:g.145368641G>A	ENSP00000358345:p.Ser658Asn					NBPF10_ENST00000369339.2_Missense_Mutation_p.S658N|NBPF10_ENST00000369338.1_Missense_Mutation_p.S656N	p.S3540N	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10654	+	all_hematologic(923;0.032)		3540					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10619G>A		.	.	.	.	.	.	.	.	.	.	.	2.743	-0.261703	0.05791	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.03580	3.98;3.88	0.3	-0.6	0.11642	.	.	.	.	.	T	0.01800	0.0057	L	0.60455	1.87	0.09310	N	1	.	.	.	.	.	.	T	0.41592	-0.9500	6	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	660;656;3540	ENSP00000358344:S656N;ENSP00000345684:S3540N	ENSP00000345684:S3540N	S	+	2	0	NBPF10	144079998	0.135000	0.22499	0.000000	0.03702	0.000000	0.00434	0.768000	0.26590	-0.798000	0.04444	-0.806000	0.03193	AGT		0.463	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		23	381	0	0	0	1	0	23	381				
RNF2	6045	broad.mit.edu	37	1	185067376	185067376	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067376G>T	ENST00000367510.3	+	5	925	c.637G>T	c.(637-639)Gca>Tca	p.A213S	RNF2_ENST00000367509.4_Missense_Mutation_p.A141S	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	213					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TAACAATGCAGCAATGGCAAT	0.428																																						ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(637-639)Gca>Tca		ring finger protein 2							136.0	119.0	125.0					1																	185067376		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185067376G>T	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.637G>T	1.37:g.185067376G>T	ENSP00000356480:p.Ala213Ser					RNF2_ENST00000367509.4_Missense_Mutation_p.A141S	p.A213S	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	5	925	+		Breast(1374;0.000496)	213					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.637G>T	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	6.393	0.440542	0.12104	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	D;D	0.85171	-1.9;-1.95	5.38	-0.353	0.12594	.	0.239874	0.47852	N	0.000201	T	0.66237	0.2769	N	0.22421	0.69	0.31697	N	0.641154	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.55147	-0.8186	10	0.06236	T	0.91	-20.5161	5.6074	0.17387	0.4889:0.0:0.3772:0.1339	.	141;213	B3KRH1;Q99496	.;RING2_HUMAN	S	213;141;213	ENSP00000356480:A213S;ENSP00000400722:A213S	ENSP00000356479:A141S	A	+	1	0	RNF2	183333999	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	0.976000	0.29462	-0.337000	0.08426	-0.469000	0.05056	GCA		0.428	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		45	45	1	0	8.01111e-26	1	1.06612e-25	45	45				
SAMD7	344658	broad.mit.edu	37	3	169644878	169644878	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(826-828)gaC>gaT		sterile alpha motif domain containing 7							61.0	60.0	61.0					3																	169644878		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644878C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.828C>T	3.37:g.169644878C>T						SAMD7_ENST00000335556.3_Silent_p.D276D	p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1217	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		276						Silent	SNP	ENST00000428432.2	37	c.828C>T	CCDS3209.1																																																																																				0.562	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		19	40	0	0	0	1	0	19	40				
KDM5C	8242	broad.mit.edu	37	X	53230839	53230839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53230839C>T	ENST00000375401.3	-	14	2486	c.1954G>A	c.(1954-1956)Gct>Act	p.A652T	KDM5C_ENST00000404049.3_Missense_Mutation_p.A651T|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.A652T|KDM5C_ENST00000452825.3_Missense_Mutation_p.A585T|KDM5C_ENST00000375383.3_Missense_Mutation_p.A611T	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	652					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGCAGGCAGCCATCTTGCAG	0.582			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1753-1755)Gct>Act		lysine (K)-specific demethylase 5C							71.0	62.0	65.0					X																	53230839		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53230839C>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1954G>A	X.37:g.53230839C>T	ENSP00000364550:p.Ala652Thr					KDM5C_ENST00000404049.3_Missense_Mutation_p.A651T|KDM5C_ENST00000375379.3_Missense_Mutation_p.A652T|KDM5C_ENST00000375383.3_Missense_Mutation_p.A611T|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Missense_Mutation_p.A652T	p.A585T	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			12	2285	-			652			JmjC.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1753G>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214806	0.95104	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	M	0.76328	2.33	0.80722	D	1	D;P;P	0.53151	0.958;0.929;0.929	P;P;P	0.54460	0.753;0.645;0.645	T	0.83070	-0.0143	10	0.87932	D	0	-2.0607	15.8095	0.78547	0.0:1.0:0.0:0.0	.	585;651;652	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	T	585;652;651;652;611	ENSP00000445176:A585T;ENSP00000364550:A652T;ENSP00000385394:A651T;ENSP00000364528:A652T;ENSP00000364532:A611T	ENSP00000364528:A652T	A	-	1	0	KDM5C	53247564	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.331000	0.79229	0.600000	0.82982	GCT		0.582	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		17	37	0	0	0	1	0	17	37				
COX7A1	1346	broad.mit.edu	37	19	36642626	36642626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36642626G>A	ENST00000292907.3	-	2	508	c.47C>T	c.(46-48)tCc>tTc	p.S16F	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	16					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGCGGTGGAGCTGAAGGA	0.692																																						ENST00000292907.3																			0				endometrium(2)|large_intestine(1)	3						c.(46-48)tCc>tTc		cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)							18.0	22.0	20.0					19																	36642626		2195	4297	6492	SO:0001583	missense	1346				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr19:36642626G>A	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.47C>T	19.37:g.36642626G>A	ENSP00000292907:p.Ser16Phe					COX7A1_ENST00000437291.2_5'UTR	p.S16F	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	508	-	Esophageal squamous(110;0.162)		16						Missense_Mutation	SNP	ENST00000292907.3	37	c.47C>T	CCDS12490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.79|15.79	2.937699|2.937699	0.52972|0.52972	.|.	.|.	ENSG00000161281|ENSG00000161281	ENST00000437291|ENST00000292907	.|T	.|0.49139	.|0.79	5.62|5.62	4.56|4.56	0.56223|0.56223	.|.	.|0.152107	.|0.42682	.|D	.|0.000664	T|T	0.64461|0.64461	0.2600|0.2600	.|.	.|.	.|.	0.33412|0.33412	D|D	0.578797|0.578797	.|D	.|0.65815	.|0.995	.|P	.|0.62885	.|0.908	T|T	0.76937|0.76937	-0.2774|-0.2774	4|9	.|0.87932	.|D	.|0	-2.6987|-2.6987	11.6485|11.6485	0.51275|0.51275	0.0:0.0:0.8224:0.1776|0.0:0.0:0.8224:0.1776	.|.	.|16	.|P24310	.|CX7A1_HUMAN	S|F	46|16	.|ENSP00000292907:S16F	.|ENSP00000292907:S16F	P|S	-|-	1|2	0|0	COX7A1|COX7A1	41334466|41334466	0.991000|0.991000	0.36638|0.36638	0.749000|0.749000	0.31150|0.31150	0.290000|0.290000	0.27261|0.27261	2.337000|2.337000	0.43947|0.43947	1.307000|1.307000	0.44944|0.44944	0.639000|0.639000	0.83563|0.83563	CCA|TCC		0.692	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		5	4	0	0	0	1	0	5	4				
WNT3	7473	broad.mit.edu	37	17	44845839	44845839	+	Silent	SNP	G	G	A	rs200319318		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44845839G>A	ENST00000225512.5	-	4	1077	c.915C>T	c.(913-915)caC>caT	p.H305H		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	305					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CATCGATGCCGTGGGAGGTGA	0.587																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(913-915)caC>caT		wingless-type MMTV integration site family, member 3							164.0	145.0	151.0					17																	44845839		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845839G>A	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.915C>T	17.37:g.44845839G>A							p.H305H	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1077	-			305					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.915C>T	CCDS11505.1																																																																																				0.587	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		14	115	0	0	0	1	0	14	115				
BSPRY	54836	broad.mit.edu	37	9	116130640	116130640	+	Missense_Mutation	SNP	C	C	T	rs376015885		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116130640C>T	ENST00000374183.4	+	5	698	c.659C>T	c.(658-660)aCg>aTg	p.T220M	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCTGGGCAACGGCGGTTCTT	0.532																																						ENST00000374183.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(658-660)aCg>aTg		B-box and SPRY domain containing		C	MET/THR	0,3810		0,0,1905	87.0	86.0	86.0		659	5.2	0.1	9		86	1,8221		0,1,4110	no	missense	BSPRY	NM_017688.2	81	0,1,6015	TT,TC,CC		0.0122,0.0,0.0083	possibly-damaging	220/403	116130640	1,12031	1905	4111	6016	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116130640C>T	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.659C>T	9.37:g.116130640C>T	ENSP00000363298:p.Thr220Met					BSPRY_ENST00000462085.1_Intron	p.T220M	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN			5	698	+			220			B30.2/SPRY.		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.659C>T	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134268	0.56828	0.0	1.22E-4	ENSG00000119411	ENST00000374183	T	0.09538	2.97	6.07	5.17	0.71159	B30.2/SPRY domain (1);	0.466245	0.25944	N	0.027300	T	0.09423	0.0232	N	0.22421	0.69	0.09310	N	1	D	0.61697	0.99	P	0.45099	0.469	T	0.18398	-1.0338	10	0.37606	T	0.19	-20.6467	11.5278	0.50591	0.0:0.8064:0.1253:0.0683	.	220	Q5W0U4	BSPRY_HUMAN	M	220	ENSP00000363298:T220M	ENSP00000363298:T220M	T	+	2	0	BSPRY	115170461	0.334000	0.24739	0.076000	0.20297	0.709000	0.40893	1.986000	0.40677	1.582000	0.49881	-0.140000	0.14226	ACG		0.532	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		30	67	0	0	0	1	0	30	67				
KRBOX4	55634	broad.mit.edu	37	X	46322661	46322661	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46322661C>A	ENST00000344302.4	+	5	802	c.171C>A	c.(169-171)atC>atA	p.I57I	KRBOX4_ENST00000298190.6_Silent_p.I57I|KRBOX4_ENST00000478600.1_Silent_p.I57I|KRBOX4_ENST00000377919.2_Silent_p.I57I|KRBOX4_ENST00000360017.5_Silent_p.I57I|KRBOX4_ENST00000487081.1_Silent_p.I57I	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										CAGATGTGATCTTCAGGTTGG	0.567																																						ENST00000344302.4																			0											c.(169-171)atC>atA		KRAB box domain containing 4							97.0	90.0	92.0					X																	46322661		2203	4300	6503	SO:0001819	synonymous_variant	55634							g.chrX:46322661C>A		CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.171C>A	X.37:g.46322661C>A						KRBOX4_ENST00000360017.5_Silent_p.I57I|KRBOX4_ENST00000377919.2_Silent_p.I57I|KRBOX4_ENST00000478600.1_Silent_p.I57I|KRBOX4_ENST00000487081.1_Silent_p.I57I|KRBOX4_ENST00000298190.6_Silent_p.I57I	p.I57I	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2					5	802	+								A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Silent	SNP	ENST00000344302.4	37	c.171C>A	CCDS48097.1																																																																																				0.567	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056359.2	NM_017776		21	42	1	0	3.8784e-16	1	4.99462e-16	21	42				
SUSD1	64420	broad.mit.edu	37	9	114860832	114860832	+	Silent	SNP	C	C	T	rs139934700	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114860832C>T	ENST00000374270.3	-	10	1564	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	SUSD1_ENST00000374264.2_Silent_p.T464T|SUSD1_ENST00000374263.3_Silent_p.T464T	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	464						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TATAATCAGTCGTAGGGTACA	0.478													C|||	9	0.00179712	0.0068	0.0	5008	,	,		21817	0.0		0.0	False		,,,				2504	0.0					ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1390-1392)acG>acA		sushi domain containing 1		C		17,4389	25.3+/-52.1	0,17,2186	181.0	156.0	165.0		1392	-0.1	0.1	9	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	SUSD1	NM_022486.3		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		464/748	114860832	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	64420					integral to membrane	calcium ion binding	g.chr9:114860832C>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1392G>A	9.37:g.114860832C>T						SUSD1_ENST00000374264.2_Silent_p.T464T|SUSD1_ENST00000374263.3_Silent_p.T464T	p.T464T	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			10	1564	-			464					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.1392G>A	CCDS6783.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	0.043	-1.276664	0.01410	0.003858	0.0	ENSG00000106868	ENST00000355396	.	.	.	5.14	-0.141	0.13452	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.29197	N	0.875493	.	.	.	.	.	.	T	0.23404	-1.0189	4	.	.	.	-3.0892	0.7432	0.00977	0.1657:0.1941:0.1596:0.4806	.	.	.	.	N	448	.	.	D	-	1	0	SUSD1	113900653	0.760000	0.28428	0.057000	0.19452	0.007000	0.05969	-0.073000	0.11468	-0.285000	0.09089	-0.302000	0.09304	GAC		0.478	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		23	39	0	0	0	1	0	23	39				
BACH1	571	broad.mit.edu	37	21	30701893	30701893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30701893C>A	ENST00000399921.1	+	4	1898	c.1655C>A	c.(1654-1656)cCa>cAa	p.P552Q	BACH1_ENST00000286800.3_Missense_Mutation_p.P552Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAGCTTACTCCAGAACAGCTG	0.373																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(1654-1656)cCa>cAa		BTB and CNC homology 1, basic leucine zipper transcription factor 1							66.0	64.0	65.0					21																	30701893		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30701893C>A	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1655C>A	21.37:g.30701893C>A	ENSP00000382805:p.Pro552Gln					BACH1_ENST00000286800.3_Missense_Mutation_p.P552Q	p.P552Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			4	1898	+			552					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.1655C>A	CCDS13585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.048821|4.048821	0.75846|0.75846	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000551628	D;D|.	0.91180|.	-2.8;-2.8|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);|.	0.073609|.	0.64402|.	D|.	0.000019|.	T|T	0.65749|0.65749	0.2721|0.2721	L|L	0.38531|0.38531	1.155|1.155	0.44966|0.44966	D|D	0.997982|0.997982	D|.	0.64830|.	0.994|.	P|.	0.61201|.	0.885|.	T|T	0.60845|0.60845	-0.7182|-0.7182	10|5	0.27082|.	T|.	0.32|.	-17.9515|-17.9515	19.2326|19.2326	0.93846|0.93846	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552|.	O14867|.	BACH1_HUMAN|.	Q|K	552|46	ENSP00000286800:P552Q;ENSP00000382805:P552Q|.	ENSP00000286800:P552Q|.	P|Q	+|+	2|1	0|0	BACH1|BACH1	29623764|29623764	0.725000|0.725000	0.28048|0.28048	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.279000|2.279000	0.43435|0.43435	2.553000|2.553000	0.86117|0.86117	0.585000|0.585000	0.79938|0.79938	CCA|CAG		0.373	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		10	24	1	0	7.48243e-07	1	8.70085e-07	10	24				
GBF1	8729	broad.mit.edu	37	10	104120794	104120794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104120794C>T	ENST00000369983.3	+	13	1665	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	469					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGCATAGAGCGACTAAACCT	0.473																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1405-1407)Cga>Tga		golgi brefeldin A resistant guanine nucleotide exchange factor 1							157.0	141.0	146.0					10																	104120794		2203	4300	6503	SO:0001587	stop_gained	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104120794C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1405C>T	10.37:g.104120794C>T	ENSP00000359000:p.Arg469*					GBF1_ENST00000476019.1_3'UTR	p.R469*	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	13	1665	+		Colorectal(252;0.0236)	469					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Nonsense_Mutation	SNP	ENST00000369983.3	37	c.1405C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	39	7.511736	0.98329	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-6.069	14.8147	0.70024	0.1439:0.856:0.0:0.0	.	.	.	.	X	469	.	ENSP00000359000:R469X	R	+	1	2	GBF1	104110784	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.300000	0.43620	2.729000	0.93468	0.650000	0.86243	CGA		0.473	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			52	110	0	0	0	1	0	52	110				
CCDC171	203238	broad.mit.edu	37	9	15744416	15744416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15744416C>T	ENST00000380701.3	+	17	2523	c.2195C>T	c.(2194-2196)gCa>gTa	p.A732V	CCDC171_ENST00000297641.3_Missense_Mutation_p.A732V	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	732																	GCAGCCTGTGCATTAATGGCT	0.448																																						ENST00000380701.3																			0											c.(2194-2196)gCa>gTa		coiled-coil domain containing 171							127.0	129.0	128.0					9																	15744416		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15744416C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2195C>T	9.37:g.15744416C>T	ENSP00000370077:p.Ala732Val					CCDC171_ENST00000297641.3_Missense_Mutation_p.A732V	p.A732V	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			17	2523	+			732					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.2195C>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627597	0.87560	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.17054	2.3;2.3	5.62	5.62	0.85841	.	0.051838	0.85682	D	0.000000	T	0.33760	0.0874	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00918	-1.1515	10	0.37606	T	0.19	-13.0883	20.0185	0.97487	0.0:1.0:0.0:0.0	.	740;732;732	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	V	732	ENSP00000297641:A732V;ENSP00000370077:A732V	ENSP00000297641:A732V	A	+	2	0	C9orf93	15734416	0.999000	0.42202	0.984000	0.44739	0.991000	0.79684	5.289000	0.65656	2.809000	0.96659	0.467000	0.42956	GCA		0.448	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		36	56	0	0	0	1	0	36	56				
MAP3K1	4214	broad.mit.edu	37	5	56160646	56160646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56160646G>A	ENST00000399503.3	+	4	920	c.920G>A	c.(919-921)cGt>cAt	p.R307H	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	307					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAAACCGCCGTGTTAACAAA	0.498																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(919-921)cGt>cAt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							92.0	94.0	94.0					5																	56160646		1899	4109	6008	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160646G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.920G>A	5.37:g.56160646G>A	ENSP00000382423:p.Arg307His						p.R307H	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	4	920	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	307						Missense_Mutation	SNP	ENST00000399503.3	37	c.920G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854617	0.91355	.	.	ENSG00000095015	ENST00000399503	T	0.78126	-1.15	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	L	0.47016	1.485	0.58432	D	0.999994	D	0.89917	1.0	D	0.78314	0.991	D	0.86269	0.1660	10	0.87932	D	0	.	19.7555	0.96287	0.0:0.0:1.0:0.0	.	307	Q13233	M3K1_HUMAN	H	307	ENSP00000382423:R307H	ENSP00000382423:R307H	R	+	2	0	MAP3K1	56196403	1.000000	0.71417	0.990000	0.47175	0.872000	0.50106	8.498000	0.90492	2.737000	0.93849	0.563000	0.77884	CGT		0.498	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		8	42	0	0	0	1	0	8	42				
HMGB4	127540	broad.mit.edu	37	1	34330140	34330140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34330140G>A	ENST00000522796.1	+	4	2253	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.P116P			Q8WW32	HMGB4_HUMAN	high mobility group box 4	116						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P116P(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567																																						ENST00000522796.1																			1	Substitution - coding silent(1)	p.P116P(1)	lung(1)	NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(346-348)ccG>ccA		high mobility group box 4							82.0	86.0	84.0					1																	34330140		2203	4299	6502	SO:0001819	synonymous_variant	127540					nucleus	DNA binding	g.chr1:34330140G>A		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.348G>A	1.37:g.34330140G>A						CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.P116P	p.P116P			B2R4X7	B2R4X7_HUMAN			4	2253	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	116					B2R4X7|Q0QWA4	Silent	SNP	ENST00000522796.1	37	c.348G>A	CCDS30668.1																																																																																				0.567	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		39	64	0	0	0	1	0	39	64				
G3BP1	10146	broad.mit.edu	37	5	151179873	151179873	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151179873A>G	ENST00000394123.3	+	10	1195	c.1050A>G	c.(1048-1050)gaA>gaG	p.E350E	G3BP1_ENST00000356245.3_Silent_p.E350E|G3BP1_ENST00000543466.1_Silent_p.E168E			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	350	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGCCTCATGAAGTGGACAAAT	0.433																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(1048-1050)gaA>gaG		GTPase activating protein (SH3 domain) binding protein 1							101.0	93.0	96.0					5																	151179873		2203	4300	6503	SO:0001819	synonymous_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151179873A>G	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1050A>G	5.37:g.151179873A>G						G3BP1_ENST00000356245.3_Silent_p.E350E|G3BP1_ENST00000543466.1_Silent_p.E168E	p.E350E			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1195	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	350			RRM.		Q5HYE9	Silent	SNP	ENST00000394123.3	37	c.1050A>G	CCDS4319.1																																																																																				0.433	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		6	65	0	0	0	1	0	6	65				
GREB1	9687	broad.mit.edu	37	2	11735422	11735422	+	Missense_Mutation	SNP	C	C	T	rs376082843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11735422C>T	ENST00000381486.2	+	12	2042	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	GREB1_ENST00000234142.5_Missense_Mutation_p.A581V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	581						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCACTCCTGCGGAGTACCAG	0.522													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0				Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(1741-1743)gCg>gTg		growth regulation by estrogen in breast cancer 1			VAL/ALA	2,3696		0,2,1847	60.0	61.0	61.0		1742	4.7	0.0	2		61	0,8184		0,0,4092	no	missense	GREB1	NM_014668.3	64	0,2,5939	TT,TC,CC		0.0,0.0541,0.0168	benign	581/1950	11735422	2,11880	1849	4092	5941	SO:0001583	missense	9687					integral to membrane		g.chr2:11735422C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1742C>T	2.37:g.11735422C>T	ENSP00000370896:p.Ala581Val					GREB1_ENST00000234142.5_Missense_Mutation_p.A581V	p.A581V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	12	2042	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		581					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1742C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.318069	0.40996	5.41E-4	0.0	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.46063	3.21;3.21;0.88	4.72	4.72	0.59763	.	0.749621	0.12588	N	0.455827	T	0.44117	0.1278	L	0.43152	1.355	0.09310	N	1	P;P	0.50443	0.935;0.733	B;B	0.44224	0.444;0.187	T	0.45056	-0.9287	10	0.72032	D	0.01	-26.3739	18.0822	0.89444	0.0:1.0:0.0:0.0	.	215;581	C9JIG0;Q4ZG55	.;GREB1_HUMAN	V	581;581;215	ENSP00000370896:A581V;ENSP00000234142:A581V;ENSP00000403886:A215V	ENSP00000234142:A581V	A	+	2	0	GREB1	11652873	0.981000	0.34729	0.019000	0.16419	0.513000	0.34164	4.329000	0.59260	2.320000	0.78422	0.552000	0.68991	GCG		0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		14	19	0	0	0	1	0	14	19				
HIST2H2BA	337875	broad.mit.edu	37	1	120906237	120906237	+	lincRNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120906237C>A	ENST00000427872.1	-	0	0				HIST2H2BA_ENST00000430394.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA																							TCATGAACTCCTTCGTCAACG	0.617																																						ENST00000430394.1																			0																																																			0							g.chr1:120906237C>A																													1.37:g.120906237C>A								NR_027337.1						0	210	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.617	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			14	105	1	0	3.27435e-08	1	3.90559e-08	14	105				
WDSUB1	151525	broad.mit.edu	37	2	160092648	160092648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160092648G>A	ENST00000409990.3	-	11	1583	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	WDSUB1_ENST00000409124.1_Missense_Mutation_p.R396C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R443C|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R443C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R351C	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	443	U-box.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGACTTGTACGTTTCTTTTTG	0.363																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(1327-1329)Cgt>Tgt		WD repeat, sterile alpha motif and U-box domain containing 1							110.0	100.0	104.0					2																	160092648		2203	4300	6503	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160092648G>A	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1327C>T	2.37:g.160092648G>A	ENSP00000387078:p.Arg443Cys					WDSUB1_ENST00000409124.1_Missense_Mutation_p.R396C|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R443C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R443C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R351C	p.R443C	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			11	1583	-			443			U-box.		Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.1327C>T	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944581	0.73672	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.59772	0.57;0.24;0.57;0.57;0.54	5.99	5.99	0.97316	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	M	0.64260	1.97	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.70716	0.862;0.916;0.97	T	0.74281	-0.3716	10	0.87932	D	0	.	15.2218	0.73316	0.0:0.0:0.8595:0.1405	.	351;396;443	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	C	443;351;443;443;396	ENSP00000352820:R443C;ENSP00000350866:R351C;ENSP00000376545:R443C;ENSP00000387078:R443C;ENSP00000386891:R396C	ENSP00000350866:R351C	R	-	1	0	WDSUB1	159800894	0.985000	0.35326	1.000000	0.80357	0.960000	0.62799	3.363000	0.52321	2.840000	0.97914	0.655000	0.94253	CGT		0.363	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		15	24	0	0	0	1	0	15	24				
TSNAX	7257	broad.mit.edu	37	1	231665031	231665031	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231665031A>G	ENST00000366639.4	+	2	205	c.47A>G	c.(46-48)gAc>gGc	p.D16G	RP11-295G20.2_ENST00000416221.1_RNA|TSNAX-DISC1_ENST00000602962.1_Missense_Mutation_p.D16G|RP11-295G20.2_ENST00000454631.1_RNA|TSNAX_ENST00000602825.1_3'UTR|RP11-295G20.2_ENST00000425412.1_RNA|RP11-295G20.2_ENST00000440665.1_RNA|RP11-295G20.2_ENST00000450783.1_RNA	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	16					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AGGAAGCATGACAATTTCCCA	0.383																																						ENST00000602962.1																			0											c.(46-48)gAc>gGc									165.0	151.0	155.0					1																	231665031		2203	4300	6503	SO:0001583	missense	0							g.chr1:231665031A>G	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.47A>G	1.37:g.231665031A>G	ENSP00000355599:p.Asp16Gly					TSNAX_ENST00000366639.4_Missense_Mutation_p.D16G|TSNAX_ENST00000602825.1_3'UTR	p.D16G							2	205	+								B1APC6	Missense_Mutation	SNP	ENST00000366639.4	37	c.47A>G	CCDS1596.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545948	0.65198	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.56	5.56	0.83823	.	0.321616	0.35805	N	0.002977	T	0.44393	0.1291	N	0.24115	0.695	0.41341	D	0.987306	B	0.20887	0.049	B	0.19148	0.024	T	0.37820	-0.9689	9	0.45353	T	0.12	.	13.2147	0.59851	1.0:0.0:0.0:0.0	.	16	Q99598	TSNAX_HUMAN	G	16	.	ENSP00000355599:D16G	D	+	2	0	TSNAX	229731654	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.913000	0.69957	2.118000	0.64928	0.533000	0.62120	GAC		0.383	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		22	102	0	0	0	1	0	22	102				
ITPK1	3705	broad.mit.edu	37	14	93429188	93429188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93429188C>A	ENST00000267615.6	-	6	544	c.371G>T	c.(370-372)aGg>aTg	p.R124M	ITPK1_ENST00000555495.1_Missense_Mutation_p.R5M|ITPK1_ENST00000354313.3_Missense_Mutation_p.R124M|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.R124M			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	124	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGAGCAGATCCTGTCGTCTAG	0.647																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(370-372)aGg>aTg		inositol-tetrakisphosphate 1-kinase							95.0	73.0	81.0					14																	93429188		2203	4300	6503	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93429188C>A	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.371G>T	14.37:g.93429188C>A	ENSP00000267615:p.Arg124Met					ITPK1_ENST00000555495.1_Missense_Mutation_p.R5M|ITPK1_ENST00000556603.2_Missense_Mutation_p.R124M|ITPK1_ENST00000354313.3_Missense_Mutation_p.R124M|ITPK1_ENST00000556954.1_5'UTR	p.R124M			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	6	544	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	124			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.371G>T	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389761	0.95988	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458;ENST00000554999;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.51	5.51	0.81932	ATP-grasp fold (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.56216	0.794;0.737	T	0.72047	-0.4408	9	0.48119	T	0.1	-2.3569	19.4094	0.94662	0.0:1.0:0.0:0.0	.	124;124	Q13572;Q13572-2	ITPK1_HUMAN;.	M	124;154;124;5;124;124;82;142;130;124;124	.	ENSP00000267615:R124M	R	-	2	0	ITPK1	92498941	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.190000	0.77755	2.570000	0.86706	0.549000	0.68633	AGG		0.647	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		14	29	1	0	9.31168e-06	1	1.06029e-05	14	29				
AKAP4	8852	broad.mit.edu	37	X	49963374	49963374	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49963374G>C	ENST00000376056.2	-	2	180	c.30C>G	c.(28-30)agC>agG	p.S10R	AKAP4_ENST00000376058.2_Missense_Mutation_p.S10R|AKAP4_ENST00000376064.3_Missense_Mutation_p.S10R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.S19R					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACCCCTGTGGCTGCGTAACC	0.433																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(28-30)agC>agG		A kinase (PRKA) anchor protein 4							93.0	71.0	79.0					X																	49963374		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49963374G>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.30C>G	X.37:g.49963374G>C	ENSP00000365224:p.Ser10Arg					AKAP4_ENST00000358526.2_Missense_Mutation_p.S19R|AKAP4_ENST00000376058.2_Missense_Mutation_p.S10R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S10R	p.S10R			Q5JQC9	AKAP4_HUMAN			2	180	-	Ovarian(276;0.236)		19						Missense_Mutation	SNP	ENST00000376056.2	37	c.30C>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202014	0.22121	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.17	3.38	0.38709	.	0.000000	0.64402	D	0.000007	T	0.71685	0.3369	M	0.78801	2.425	0.22639	N	0.998906	D;D	0.71674	0.995;0.998	D;D	0.78314	0.979;0.991	T	0.61382	-0.7074	9	.	.	.	-13.9104	7.7676	0.28988	0.2061:0.0:0.7939:0.0	.	19;10	Q5JQC9;A6ND82	AKAP4_HUMAN;.	R	10;10;19;10;10;10	ENSP00000365224:S10R;ENSP00000365226:S10R;ENSP00000351327:S19R;ENSP00000365232:S10R;ENSP00000402403:S10R;ENSP00000412279:S10R	.	S	-	3	2	AKAP4	49850114	0.999000	0.42202	0.957000	0.39632	0.239000	0.25481	2.471000	0.45127	0.988000	0.38734	-0.191000	0.12829	AGC		0.433	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		11	13	0	0	0	1	0	11	13				
EFNB1	1947	broad.mit.edu	37	X	68060409	68060409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:68060409A>G	ENST00000204961.4	+	5	1733	c.953A>G	c.(952-954)gAg>gGg	p.E318G		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	318					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCCCACTATGAGAAGGTGAGT	0.612																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(952-954)gAg>gGg		ephrin-B1							44.0	33.0	37.0					X																	68060409		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060409A>G	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.953A>G	X.37:g.68060409A>G	ENSP00000204961:p.Glu318Gly						p.E318G	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1733	+			318					D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.953A>G	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	a	19.50	3.838975	0.71373	.	.	ENSG00000090776	ENST00000204961	D	0.96011	-3.88	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.79926	2.475	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	D	0.97804	1.0246	10	0.87932	D	0	-36.2299	11.6021	0.51008	1.0:0.0:0.0:0.0	.	318	P98172	EFNB1_HUMAN	G	318	ENSP00000204961:E318G	ENSP00000204961:E318G	E	+	2	0	EFNB1	67977134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.078000	0.94023	1.868000	0.54150	0.422000	0.28245	GAG		0.612	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		10	15	0	0	0	1	0	10	15				
DNAH1	25981	broad.mit.edu	37	3	52427409	52427409	+	Missense_Mutation	SNP	A	A	G	rs542965042	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52427409A>G	ENST00000420323.2	+	66	10795	c.10534A>G	c.(10534-10536)Aac>Gac	p.N3512D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3577					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCTACAGCAACGTCTGCCG	0.542													A|||	2	0.000399361	0.0	0.0	5008	,	,		20072	0.0		0.0	False		,,,				2504	0.002					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10534-10536)Aac>Gac		dynein, axonemal, heavy chain 1							98.0	111.0	107.0					3																	52427409		2152	4259	6411	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52427409A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10534A>G	3.37:g.52427409A>G	ENSP00000401514:p.Asn3512Asp						p.N3512D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	66	10795	+			3577					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10534A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256130	0.80246	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.60797	0.16	4.46	4.46	0.54185	.	0.084489	0.46145	D	0.000315	T	0.77363	0.4119	M	0.93720	3.45	0.47407	D	0.999411	D;P	0.59357	0.985;0.571	P;B	0.55871	0.786;0.229	D	0.84332	0.0522	10	0.87932	D	0	.	13.6102	0.62074	1.0:0.0:0.0:0.0	.	3512;3577	C9JXH6;Q9P2D7-2	.;.	D	3512;265	ENSP00000401514:N3512D	ENSP00000273600:N265D	N	+	1	0	DNAH1	52402449	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.103000	0.77014	1.886000	0.54624	0.460000	0.39030	AAC		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		17	30	0	0	0	1	0	17	30				
BOC	91653	broad.mit.edu	37	3	113002407	113002407	+	Missense_Mutation	SNP	G	G	A	rs148702312	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113002407G>A	ENST00000495514.1	+	16	3285	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_ENST00000273395.4_Missense_Mutation_p.V862I|BOC_ENST00000355385.3_Missense_Mutation_p.V861I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	861					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V861I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612																																						ENST00000495514.1																			1	Substitution - Missense(1)	p.V861I(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2581-2583)Gtc>Atc		BOC cell adhesion associated, oncogene regulated		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	124.0	117.0	119.0		2581	5.7	1.0	3	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BOC	NM_033254.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	861/1115	113002407	2,13004	2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113002407G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2581G>A	3.37:g.113002407G>A	ENSP00000418663:p.Val861Ile					BOC_ENST00000355385.3_Missense_Mutation_p.V861I|BOC_ENST00000273395.4_Missense_Mutation_p.V862I	p.V861I			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		16	3285	+			861					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.2581G>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229469	0.95173	2.27E-4	1.16E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.63255	-0.03;-0.02;-0.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.71600	-0.4544	10	0.22109	T	0.4	.	18.0536	0.89357	0.0:0.0:1.0:0.0	.	678;862;861	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	I	861;862;861	ENSP00000418663:V861I;ENSP00000273395:V862I;ENSP00000347546:V861I	ENSP00000273395:V862I	V	+	1	0	BOC	114485097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.102000	0.94226	2.699000	0.92147	0.563000	0.77884	GTC		0.612	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		27	56	0	0	0	1	0	27	56				
DYNC2H1	79659	broad.mit.edu	37	11	103018615	103018615	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103018615G>T	ENST00000375735.2	+	19	2961	c.2817G>T	c.(2815-2817)caG>caT	p.Q939H	DYNC2H1_ENST00000398093.3_Splice_Site_p.Q939H|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	939	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTCCATACAGGGTAAATACA	0.274																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.e19+1		dynein, cytoplasmic 2, heavy chain 1							84.0	78.0	80.0					11																	103018615		1803	4063	5866	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103018615G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2818+1G>T	11.37:g.103018615G>T						DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.Q939_splice	p.Q939_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	19	2961	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	939			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	c.2818_splice	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	8.036	0.762742	0.15914	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.27720	1.65;1.65	5.79	2.6	0.31112	.	0.557501	0.15448	U	0.261856	T	0.21801	0.0525	L	0.33485	1.01	0.43457	D	0.995651	B;B	0.26041	0.052;0.14	B;B	0.28139	0.04;0.086	T	0.05146	-1.0903	10	0.44086	T	0.13	.	6.2782	0.20993	0.5417:0.0:0.4583:0.0	.	939;939	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	939	ENSP00000364887:Q939H;ENSP00000381167:Q939H	ENSP00000364887:Q939H	Q	+	3	2	DYNC2H1	102523825	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.545000	0.36169	0.618000	0.30179	0.650000	0.86243	CAG		0.274	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Missense_Mutation	5	37	1	0	1.23904e-05	1	1.39987e-05	5	37				
DNM1P46	196968	broad.mit.edu	37	15	100331336	100331336	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100331336G>T	ENST00000341853.1	-	0	2855				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TGCTCACGTGGCCCCAACCCC	0.567																																						ENST00000341853.1																			0																				72.0	76.0	75.0					15																	100331336		876	1991	2867			0							g.chr15:100331336G>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331336G>T								NR_003260.1						0	2855	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.567	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		7	57	1	0	0.0293803	1	0.0301098	7	57				
C11orf16	56673	broad.mit.edu	37	11	8948649	8948649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8948649G>A	ENST00000326053.5	-	4	503	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	C11orf16_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Nonsense_Mutation_p.Q133*	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ACTCTCTGCTGCTGGGCTGGC	0.547																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(397-399)Cag>Tag		chromosome 11 open reading frame 16							64.0	54.0	58.0					11																	8948649		2201	4296	6497	SO:0001587	stop_gained	56673							g.chr11:8948649G>A	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.397C>T	11.37:g.8948649G>A	ENSP00000318999:p.Gln133*					C11orf16_ENST00000525780.1_Nonsense_Mutation_p.Q133*|C11orf16_ENST00000528998.1_5'UTR	p.Q133*	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	4	503	-			133					Q53FB2|Q8N6Y9	Nonsense_Mutation	SNP	ENST00000326053.5	37	c.397C>T	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677847	0.29783	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	.	.	.	5.62	-1.01	0.10169	.	1.738480	0.02991	N	0.146911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-27.8991	1.0978	0.01677	0.2118:0.2731:0.3179:0.1972	.	.	.	.	X	133	.	ENSP00000318999:Q133X	Q	-	1	0	C11orf16	8905225	0.000000	0.05858	0.011000	0.14972	0.596000	0.36781	-0.147000	0.10234	-0.476000	0.06842	0.591000	0.81541	CAG		0.547	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		17	32	0	0	0	1	0	17	32				
LRRC55	219527	broad.mit.edu	37	11	56949379	56949379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56949379C>T	ENST00000497933.1	+	1	159	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCTCAGAAGCCCCACCTTCA	0.597																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(10-12)agC>agT		leucine rich repeat containing 55							71.0	56.0	62.0					11																	56949379		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949379C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.12C>T	11.37:g.56949379C>T							p.S4S	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	159	+			0					A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.12C>T	CCDS31539.1																																																																																				0.597	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		6	23	0	0	0	1	0	6	23				
MAST1	22983	broad.mit.edu	37	19	12962830	12962830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12962830C>T	ENST00000251472.4	+	8	896	c.857C>T	c.(856-858)gCg>gTg	p.A286V	MAST1_ENST00000591495.1_Missense_Mutation_p.A282V	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACGCCCTGCGAGGCTGCTG	0.612																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(856-858)gCg>gTg		microtubule associated serine/threonine kinase 1							88.0	81.0	84.0					19																	12962830		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12962830C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.857C>T	19.37:g.12962830C>T	ENSP00000251472:p.Ala286Val					MAST1_ENST00000591495.1_Missense_Mutation_p.A282V	p.A286V	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			8	896	+			286						Missense_Mutation	SNP	ENST00000251472.4	37	c.857C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640695	0.87859	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.47528	0.84	5.38	5.38	0.77491	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82242	-0.0554	10	0.87932	D	0	-32.0768	16.991	0.86353	0.0:1.0:0.0:0.0	.	286;286	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	V	286	ENSP00000251472:A286V	ENSP00000251472:A286V	A	+	2	0	MAST1	12823830	1.000000	0.71417	0.171000	0.22900	0.647000	0.38526	7.757000	0.85209	2.703000	0.92315	0.585000	0.79938	GCG		0.612	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		28	27	0	0	0	1	0	28	27				
SCYL3	57147	broad.mit.edu	37	1	169831808	169831808	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169831808C>A	ENST00000367770.1	-	9	1133	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	SCYL3_ENST00000367772.4_Missense_Mutation_p.E362D|RN7SL333P_ENST00000476398.2_RNA|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Missense_Mutation_p.E362D			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	362					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCACGTAGGCCTCGATGTGAG	0.542																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1084-1086)gaG>gaT		SCY1-like 3 (S. cerevisiae)							230.0	217.0	221.0					1																	169831808		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169831808C>A	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1086G>T	1.37:g.169831808C>A	ENSP00000356744:p.Glu362Asp					SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.E362D|SCYL3_ENST00000367771.5_Missense_Mutation_p.E362D	p.E362D	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			10	1283	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		362					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.1086G>T	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150089	0.21371	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.67	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.263665	0.42964	D	0.000634	T	0.09335	0.0230	N	0.20401	0.57	0.36284	D	0.855945	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12156	0.007;0.003;0.001	T	0.08848	-1.0702	10	0.19147	T	0.46	-21.2001	13.24	0.59992	0.2642:0.7358:0.0:0.0	.	8;362;362	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	D	362	ENSP00000356746:E362D;ENSP00000356745:E362D;ENSP00000356744:E362D;ENSP00000407993:E362D	ENSP00000356744:E362D	E	-	3	2	SCYL3	168098432	0.990000	0.36364	1.000000	0.80357	0.988000	0.76386	0.290000	0.18975	2.665000	0.90641	0.609000	0.83330	GAG		0.542	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		26	294	1	0	1.42536e-11	1	1.77909e-11	26	294				
IFNA8	3445	broad.mit.edu	37	9	21409185	21409185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21409185A>C	ENST00000380205.1	+	1	40	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	4					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AATGGCCTTGACTTTTTATTT	0.498																																						ENST00000380205.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9						c.(10-12)Act>Cct		interferon, alpha 8							140.0	132.0	135.0					9																	21409185		2203	4300	6503	SO:0001583	missense	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409185A>C		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.10A>C	9.37:g.21409185A>C	ENSP00000369553:p.Thr4Pro						p.T4P	NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	40	+			4					P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.10A>C	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	A	0.909	-0.719798	0.03182	.	.	ENSG00000120242	ENST00000380205	T	0.03094	4.05	3.43	-3.95	0.04118	.	1.580740	0.03493	N	0.216871	T	0.01454	0.0047	N	0.02697	-0.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43845	-0.9366	10	0.19147	T	0.46	.	1.0969	0.01675	0.4106:0.1716:0.2621:0.1557	.	4	P32881	IFNA8_HUMAN	P	4	ENSP00000369553:T4P	ENSP00000369553:T4P	T	+	1	0	IFNA8	21399185	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.741000	0.04855	-0.778000	0.04566	-0.302000	0.09304	ACT		0.498	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		5	64	0	0	0	1	0	5	64				
ZSWIM3	140831	broad.mit.edu	37	20	44506742	44506742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44506742G>A	ENST00000255152.2	+	2	1754	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	ZSWIM3_ENST00000454862.2_Silent_p.E509E	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	515							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGAGTGGGAGGTGGTACAGA	0.567																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1543-1545)gaG>gaA		zinc finger, SWIM-type containing 3							88.0	73.0	78.0					20																	44506742		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44506742G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1545G>A	20.37:g.44506742G>A						ZSWIM3_ENST00000454862.2_Silent_p.E509E	p.E515E	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	1754	+		Myeloproliferative disorder(115;0.0122)	515					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.1545G>A	CCDS13381.1																																																																																				0.567	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		14	24	0	0	0	1	0	14	24				
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12123223C>A	ENST00000379388.2	+	4	3527	c.3195C>A	c.(3193-3195)ggC>ggA	p.G1065G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3193-3195)ggC>ggA		human immunodeficiency virus type I enhancer binding protein 1							76.0	75.0	75.0					6																	12123223		1867	4098	5965	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123223C>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3195C>A	6.37:g.12123223C>A							p.G1065G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	3527	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1065					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3195C>A	CCDS43426.1																																																																																				0.403	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		27	61	1	0	1.50538e-07	1	1.77473e-07	27	61				
TSNAX	7257	broad.mit.edu	37	1	231673028	231673028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231673028C>T	ENST00000366639.4	+	3	349	c.191C>T	c.(190-192)aCt>aTt	p.T64I	TSNAX-DISC1_ENST00000602962.1_Missense_Mutation_p.T64I|TSNAX_ENST00000602825.1_3'UTR	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	64					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CGGGATATAACTGTTGAAAGT	0.328																																						ENST00000602962.1																			0											c.(190-192)aCt>aTt									124.0	128.0	127.0					1																	231673028		2203	4300	6503	SO:0001583	missense	0							g.chr1:231673028C>T	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.191C>T	1.37:g.231673028C>T	ENSP00000355599:p.Thr64Ile					TSNAX_ENST00000366639.4_Missense_Mutation_p.T64I|TSNAX_ENST00000602825.1_3'UTR	p.T64I							3	349	+								B1APC6	Missense_Mutation	SNP	ENST00000366639.4	37	c.191C>T	CCDS1596.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992450	0.93167	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	6.08	6.08	0.98989	Translin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85246	0.1041	9	0.62326	D	0.03	.	20.6647	0.99678	0.0:1.0:0.0:0.0	.	64	Q99598	TSNAX_HUMAN	I	64	.	ENSP00000355599:T64I	T	+	2	0	TSNAX	229739651	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.369000	0.79578	2.890000	0.99128	0.655000	0.94253	ACT		0.328	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		20	43	0	0	0	1	0	20	43				
DAGLA	747	broad.mit.edu	37	11	61488197	61488197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61488197C>T	ENST00000257215.5	+	3	258	c.142C>T	c.(142-144)Cac>Tac	p.H48Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	48					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTATAACCCGCACGAGGCCTG	0.617																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(142-144)Cac>Tac		diacylglycerol lipase, alpha							92.0	84.0	86.0					11																	61488197		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61488197C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.142C>T	11.37:g.61488197C>T	ENSP00000257215:p.His48Tyr						p.H48Y	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	3	258	+			48					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.142C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	7.281	0.609030	0.14066	.	.	ENSG00000134780	ENST00000257215	T	0.22743	1.94	4.43	-0.769	0.11009	.	0.482898	0.22830	N	0.055118	T	0.05823	0.0152	N	0.02539	-0.55	0.22354	N	0.999175	B	0.21309	0.054	B	0.19666	0.026	T	0.42413	-0.9453	10	0.02654	T	1	-19.869	9.2825	0.37737	0.5249:0.3773:0.0977:0.0	.	48	Q9Y4D2	DGLA_HUMAN	Y	48	ENSP00000257215:H48Y	ENSP00000257215:H48Y	H	+	1	0	DAGLA	61244773	0.915000	0.31059	0.572000	0.28498	0.930000	0.56654	1.653000	0.37323	0.068000	0.16574	0.561000	0.74099	CAC		0.617	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		4	53	0	0	0	1	0	4	53				
RBMXL1	494115	broad.mit.edu	37	1	89448840	89448840	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448840C>A	ENST00000321792.5	-	2	1097	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.D224Y	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	224					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTTGGGTAATCTCTGCTTGAA	0.453																																						ENST00000399794.2																			0											c.(670-672)Gat>Tat		RNA binding motif protein, X-linked-like 1							187.0	170.0	176.0					1																	89448840		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448840C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.670G>T	1.37:g.89448840C>A	ENSP00000318415:p.Asp224Tyr					CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D224Y|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	p.D224Y	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1385	-			224						Missense_Mutation	SNP	ENST00000321792.5	37	c.670G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243571	0.58995	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76709	-1.04;-1.04	1.53	1.53	0.23141	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.57536	1.79	0.45852	D	0.998711	P	0.41710	0.76	B	0.42112	0.376	T	0.65199	-0.6226	10	0.59425	D	0.04	.	8.6429	0.33987	0.0:1.0:0.0:0.0	.	224	Q96E39	RBMXL_HUMAN	Y	224	ENSP00000318415:D224Y;ENSP00000446099:D224Y	ENSP00000318415:D224Y	D	-	1	0	RBMXL1	89221428	1.000000	0.71417	0.988000	0.46212	0.365000	0.29674	4.924000	0.63418	0.850000	0.35239	0.306000	0.20318	GAT		0.453	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		49	132	1	0	2.24722e-20	1	2.95023e-20	49	132				
CNTNAP1	8506	broad.mit.edu	37	17	40840894	40840894	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40840894G>A	ENST00000264638.4	+	10	1674	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	486	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTGCTCCAGGTTGTCCCAAG	0.602																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.e10-1		contactin associated protein 1							88.0	81.0	84.0					17																	40840894		2203	4300	6503	SO:0001630	splice_region_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40840894G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1457-1G>A	17.37:g.40840894G>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.G486_splice	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	10	1674	+		Breast(137;0.000143)	486			Laminin G-like 2.			Splice_Site	SNP	ENST00000264638.4	37	c.1456_splice	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660963	0.88154	.	.	ENSG00000108797	ENST00000264638	D	0.91180	-2.8	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.95701	0.8602	M	0.85542	2.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95872	0.8892	9	.	.	.	.	17.9018	0.88906	0.0:0.0:1.0:0.0	.	486	P78357	CNTP1_HUMAN	D	486	ENSP00000264638:G486D	.	G	+	2	0	CNTNAP1	38094420	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.278000	0.89899	2.449000	0.82847	0.561000	0.74099	GGT		0.602	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	Missense_Mutation	20	50	0	0	0	1	0	20	50				
AHNAK	79026	broad.mit.edu	37	11	62294946	62294946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62294946G>A	ENST00000378024.4	-	5	7217	c.6943C>T	c.(6943-6945)Cct>Tct	p.P2315S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2315					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACATCAGGCATGGAGATC	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6943-6945)Cct>Tct		AHNAK nucleoprotein							144.0	156.0	152.0					11																	62294946		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294946G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6943C>T	11.37:g.62294946G>A	ENSP00000367263:p.Pro2315Ser					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2315S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7217	-		Melanoma(852;0.155)	2315					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6943C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869909	0.72065	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03152	4.03	3.91	3.91	0.45181	.	0.000000	0.40640	N	0.001056	T	0.24851	0.0603	M	0.92833	3.35	0.51767	D	0.999934	D	0.76494	0.999	D	0.81914	0.995	T	0.35425	-0.9789	10	0.72032	D	0.01	-7.2271	15.9788	0.80091	0.0:0.0:1.0:0.0	.	2315	Q09666	AHNK_HUMAN	S	404;2315	ENSP00000367263:P2315S	ENSP00000244934:P404S	P	-	1	0	AHNAK	62051522	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.372000	0.97165	1.897000	0.54924	0.291000	0.19559	CCT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	108	0	0	0	1	0	46	108				
PROSER2	254427	broad.mit.edu	37	10	11908610	11908610	+	Silent	SNP	C	C	T	rs142720162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11908610C>T	ENST00000277570.5	+	3	373	c.219C>T	c.(217-219)gaC>gaT	p.D73D	PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	73																	ACTCCCTAGACGAGGACTTTG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20462	0.0		0.0	False		,,,				2504	0.0					ENST00000277570.5																			0											c.(217-219)gaC>gaT		proline and serine-rich protein 2		C		3,4403	6.2+/-15.9	0,3,2200	110.0	91.0	98.0		219	-5.5	0.2	10	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	C10orf47	NM_153256.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		73/436	11908610	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	254427							g.chr10:11908610C>T	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.219C>T	10.37:g.11908610C>T						PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	p.D73D	NM_153256.3	NP_694988.3					3	373	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	c.219C>T	CCDS7085.1																																																																																				0.547	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		42	60	0	0	0	1	0	42	60				
SAMD9	54809	broad.mit.edu	37	7	92732292	92732292	+	Missense_Mutation	SNP	C	C	T	rs372955426		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92732292C>T	ENST00000379958.2	-	3	3388	c.3119G>A	c.(3118-3120)cGc>cAc	p.R1040H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R1040L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363																																						ENST00000379958.2																			1	Substitution - Missense(1)	p.R1040L(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3118-3120)cGc>cAc		sterile alpha motif domain containing 9		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	113.0	101.0	105.0		3119,3119	2.6	0.1	7		105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SAMD9	NM_001193307.1,NM_017654.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1040/1590,1040/1590	92732292	1,13005	2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92732292C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3119G>A	7.37:g.92732292C>T	ENSP00000369292:p.Arg1040His						p.R1040H	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3388	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1040					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3119G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293525	0.23564	0.0	1.16E-4	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25579	1.79;2.61	4.46	2.64	0.31445	.	0.179206	0.27164	N	0.020622	T	0.17492	0.0420	L	0.45137	1.4	0.09310	N	1	B	0.33777	0.425	B	0.24269	0.052	T	0.20107	-1.0285	10	0.87932	D	0	-0.2488	7.5755	0.27933	0.0:0.7234:0.0:0.2766	.	1040	Q5K651	SAMD9_HUMAN	H	1040	ENSP00000369292:R1040H;ENSP00000414529:R1040H	ENSP00000369292:R1040H	R	-	2	0	SAMD9	92570228	0.431000	0.25546	0.077000	0.20336	0.333000	0.28666	0.937000	0.28951	1.249000	0.43950	0.609000	0.83330	CGC		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		6	132	0	0	0	1	0	6	132				
ATR	545	broad.mit.edu	37	3	142168414	142168414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142168414G>A	ENST00000350721.4	-	47	7913	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	XRN1_ENST00000392981.2_5'Flank|ATR_ENST00000383101.3_Nonsense_Mutation_p.R2534*|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000463916.1_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2598					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTTGTAGTCGCTGCTCAATG	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7792-7794)Cga>Tga	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							85.0	76.0	79.0					3																	142168414		2203	4300	6503	SO:0001587	stop_gained	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168414G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7792C>T	3.37:g.142168414G>A	ENSP00000343741:p.Arg2598*					ATR_ENST00000383101.3_Nonsense_Mutation_p.R2534*	p.R2598*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			47	7913	-			2598					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.7792C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	49	15.341636	0.99830	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.46	2.58	0.30949	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7721	14.4659	0.67482	0.0:0.0:0.6147:0.3853	.	.	.	.	X	2598;2534	.	ENSP00000343741:R2598X	R	-	1	2	ATR	143651104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.776000	0.47709	0.244000	0.21351	0.650000	0.86243	CGA		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		15	29	0	0	0	1	0	15	29				
ATP11B	23200	broad.mit.edu	37	3	182635856	182635856	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182635856C>A	ENST00000323116.5	+	30	3758	c.3498C>A	c.(3496-3498)atC>atA	p.I1166I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1166					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ACAGGAGCATCTTGACTCTCT	0.428																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(3496-3498)atC>atA		ATPase, class VI, type 11B							164.0	149.0	154.0					3																	182635856		2203	4300	6503	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182635856C>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3498C>A	3.37:g.182635856C>A							p.I1166I	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		30	3758	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1166					Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.3498C>A	CCDS33896.1																																																																																				0.428	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		5	93	1	0	0.00116845	1	0.00124821	5	93				
TAS2R46	259292	broad.mit.edu	37	12	11214399	11214399	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11214399C>A	ENST00000533467.1	-	1	494	c.495G>T	c.(493-495)aaG>aaT	p.K165N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	165					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCAGTTTGATCTTCCAAGTCA	0.363																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(493-495)aaG>aaT		taste receptor, type 2, member 46							154.0	158.0	157.0					12																	11214399		2188	4299	6487	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214399C>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.495G>T	12.37:g.11214399C>A	ENSP00000436450:p.Lys165Asn					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.K165N	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	494	-			165					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.495G>T	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	C	4.521	0.096677	0.08681	.	.	ENSG00000226761	ENST00000533467	T	0.37235	1.21	2.54	1.59	0.23543	.	.	.	.	.	T	0.33904	0.0879	L	0.56199	1.76	0.09310	N	1	B	0.21071	0.051	B	0.33799	0.17	T	0.39522	-0.9610	9	0.41790	T	0.15	.	4.9411	0.13965	0.2447:0.5158:0.2395:0.0	.	165	P59540	T2R46_HUMAN	N	165	ENSP00000436450:K165N	ENSP00000436450:K165N	K	-	3	2	TAS2R46	11105666	0.000000	0.05858	0.006000	0.13384	0.083000	0.17756	-0.056000	0.11787	0.375000	0.24679	0.194000	0.17425	AAG		0.363	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		26	46	1	0	1.55469e-16	1	2.00715e-16	26	46				
SULT2A1	6822	broad.mit.edu	37	19	48389406	48389406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389406C>T	ENST00000222002.3	-	1	248	c.109G>A	c.(109-111)Gta>Ata	p.V37I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	37					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AATATTATTACATCTTCATCC	0.413																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(109-111)Gta>Ata		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							282.0	231.0	248.0					19																	48389406		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48389406C>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.109G>A	19.37:g.48389406C>T	ENSP00000222002:p.Val37Ile						p.V37I	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	1	248	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	37						Missense_Mutation	SNP	ENST00000222002.3	37	c.109G>A	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	C	6.999	0.554577	0.13436	.	.	ENSG00000105398	ENST00000222002	T	0.01629	4.72	3.89	1.26	0.21427	Sulfotransferase domain (1);	0.809286	0.10534	N	0.663453	T	0.01387	0.0045	N	0.17922	0.545	0.09310	N	1	B	0.27450	0.179	B	0.31191	0.125	T	0.49570	-0.8926	10	0.10636	T	0.68	.	7.1024	0.25344	0.0:0.7209:0.0:0.2791	.	37	Q06520	ST2A1_HUMAN	I	37	ENSP00000222002:V37I	ENSP00000222002:V37I	V	-	1	0	SULT2A1	53081218	0.420000	0.25457	0.009000	0.14445	0.188000	0.23474	0.367000	0.20382	0.234000	0.21139	0.643000	0.83706	GTA		0.413	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		14	197	0	0	0	1	0	14	197				
SLC6A7	6534	broad.mit.edu	37	5	149578855	149578855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149578855C>T	ENST00000230671.2	+	5	1020	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L217F	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	217					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCGCTGGAACCTCTGCCTCTG	0.637																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(649-651)Ctc>Ttc		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						98.0	91.0	94.0					5																	149578855		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149578855C>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.649C>T	5.37:g.149578855C>T	ENSP00000230671:p.Leu217Phe					SLC6A7_ENST00000524041.1_Missense_Mutation_p.L217F	p.L217F	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1020	+		all_hematologic(541;0.224)	217					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.649C>T	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154150	0.78114	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.81078	-1.45;-1.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	H	0.94222	3.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92840	0.6288	10	0.87932	D	0	.	10.4007	0.44229	0.0:0.849:0.0:0.151	.	217	Q99884	SC6A7_HUMAN	F	217	ENSP00000230671:L217F;ENSP00000428200:L217F	ENSP00000230671:L217F	L	+	1	0	SLC6A7	149559048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.027000	0.49697	2.414000	0.81942	0.655000	0.94253	CTC		0.637	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		29	29	0	0	0	1	0	29	29				
F8	2157	broad.mit.edu	37	X	154194307	154194307	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154194307T>C	ENST00000360256.4	-	9	1581	c.1381A>G	c.(1381-1383)Att>Gtt	p.I461V	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	461	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATGCTGAATAGCTTCACGA	0.393																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1381-1383)Att>Gtt		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						153.0	134.0	141.0					X																	154194307		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194307T>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1381A>G	X.37:g.154194307T>C	ENSP00000353393:p.Ile461Val					F8_ENST00000483822.1_5'UTR	p.I461V	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			9	1581	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		461			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1381A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	2.264	-0.368567	0.05069	.	.	ENSG00000185010	ENST00000360256	D	0.99488	-6.0	5.23	-0.279	0.12890	Cupredoxin (2);Multicopper oxidase, type 3 (1);	1.338710	0.04258	N	0.339811	D	0.96667	0.8912	N	0.12569	0.235	0.09310	N	1	B	0.26002	0.139	B	0.28465	0.09	D	0.96875	0.9642	10	0.30078	T	0.28	-1.609	3.1177	0.06380	0.2542:0.2964:0.0:0.4493	.	461	P00451	FA8_HUMAN	V	461	ENSP00000353393:I461V	ENSP00000353393:I461V	I	-	1	0	F8	153847501	0.000000	0.05858	0.046000	0.18839	0.626000	0.37791	-0.844000	0.04345	-0.072000	0.12864	-0.579000	0.04138	ATT		0.393	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			56	97	0	0	0	1	0	56	97				
AGL	178	broad.mit.edu	37	1	100353533	100353533	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100353533G>A	ENST00000294724.4	+	21	3159		c.e21-1		AGL_ENST00000370165.3_Splice_Site|AGL_ENST00000361915.3_Splice_Site|AGL_ENST00000361522.4_Splice_Site|AGL_ENST00000370161.2_Splice_Site|AGL_ENST00000370163.3_Splice_Site|AGL_ENST00000361302.3_Splice_Site	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAATTCTTAGTCTTGCCTCC	0.348																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.e21-1		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							79.0	77.0	78.0					1																	100353533		2203	4300	6503	SO:0001630	splice_region_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100353533G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2682-1G>A	1.37:g.100353533G>A						AGL_ENST00000370165.3_Splice_Site|AGL_ENST00000361915.3_Splice_Site|AGL_ENST00000361522.4_Splice_Site|AGL_ENST00000361302.3_Splice_Site|AGL_ENST00000370163.3_Splice_Site|AGL_ENST00000370161.2_Splice_Site		NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	21	3159	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)						A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Splice_Site	SNP	ENST00000294724.4	37		CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689331	0.68271	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1783	0.93612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGL	100126121	1.000000	0.71417	0.998000	0.56505	0.645000	0.38454	6.991000	0.76232	2.595000	0.87683	0.544000	0.68410	.		0.348	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	Intron	4	78	0	0	0	1	0	4	78				
DPP8	54878	broad.mit.edu	37	15	65739321	65739321	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65739321G>A	ENST00000341861.5	-	20	4178	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	DPP8_ENST00000300141.6_Silent_p.S850S|DPP8_ENST00000321118.7_Silent_p.S817S|DPP8_ENST00000339244.5_Silent_p.S693S|DPP8_ENST00000559233.1_Silent_p.S866S|DPP8_ENST00000321147.6_Silent_p.S815S|DPP8_ENST00000358939.4_Silent_p.S750S	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	866					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAACTCTTATGCTGTGTCTCT	0.343																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2596-2598)agC>agT		dipeptidyl-peptidase 8							123.0	120.0	121.0					15																	65739321		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65739321G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2598C>T	15.37:g.65739321G>A						DPP8_ENST00000559233.1_Silent_p.S866S|DPP8_ENST00000321118.7_Silent_p.S817S|DPP8_ENST00000339244.5_Silent_p.S693S|DPP8_ENST00000300141.6_Silent_p.S850S|DPP8_ENST00000358939.4_Silent_p.S750S|DPP8_ENST00000321147.6_Silent_p.S815S	p.S866S	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			20	4178	-			866					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.2598C>T	CCDS10207.1																																																																																				0.343	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		25	79	0	0	0	1	0	25	79				
PCDH8	5100	broad.mit.edu	37	13	53418936	53418936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53418936G>A	ENST00000377942.3	-	3	3175	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	PCDH8_ENST00000338862.4_Missense_Mutation_p.T894M	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	991					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCAGTGACGTGCTCTTACA	0.607																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2971-2973)aCg>aTg		protocadherin 8							169.0	101.0	124.0					13																	53418936		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53418936G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2972C>T	13.37:g.53418936G>A	ENSP00000367177:p.Thr991Met					PCDH8_ENST00000338862.4_Missense_Mutation_p.T894M	p.T991M	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3175	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	991					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2972C>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901958	0.72754	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.54279	0.64;0.58	5.95	5.95	0.96441	.	0.000000	0.45361	D	0.000363	T	0.66208	0.2766	L	0.36672	1.1	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.939	T	0.66093	-0.6009	10	0.66056	D	0.02	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	894;991	O95206-2;O95206	.;PCDH8_HUMAN	M	991;894;517;834	ENSP00000367177:T991M;ENSP00000341350:T894M	ENSP00000341350:T894M	T	-	2	0	PCDH8	52316937	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.310000	0.78947	2.817000	0.96982	0.563000	0.77884	ACG		0.607	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		16	34	0	0	0	1	0	16	34				
MCCD1	401250	broad.mit.edu	37	6	31496809	31496809	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31496809C>A	ENST00000376191.2	+	1	316	c.18C>A	c.(16-18)ccC>ccA	p.P6P	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	6						mitochondrion (GO:0005739)				skin(1)	1						TCCCTCTGCCCTGGCTCTCTC	0.627																																						ENST00000376191.2																			0				skin(1)	1						c.(16-18)ccC>ccA		mitochondrial coiled-coil domain 1							168.0	123.0	139.0					6																	31496809		1511	2709	4220	SO:0001819	synonymous_variant	401250					mitochondrion		g.chr6:31496809C>A		CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.18C>A	6.37:g.31496809C>A							p.P6P	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN			1	316	+			6					A2AB29|A2RUP7|B0UZB2|Q7RTY2	Silent	SNP	ENST00000376191.2	37	c.18C>A	CCDS34396.1																																																																																				0.627	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259099.1			4	82	1	0	0.0215528	1	0.0221649	4	82				
USHBP1	83878	broad.mit.edu	37	19	17373578	17373578	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17373578C>A	ENST00000252597.3	-	4	598	c.425G>T	c.(424-426)aGc>aTc	p.S142I	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.S78I	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCCAGAATGGCTGGGGGGCTG	0.677																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(424-426)aGc>aTc		Usher syndrome 1C binding protein 1							42.0	45.0	44.0					19																	17373578		2202	4296	6498	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373578C>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.425G>T	19.37:g.17373578C>A	ENSP00000252597:p.Ser142Ile					USHBP1_ENST00000431146.2_Missense_Mutation_p.S78I|USHBP1_ENST00000598570.1_5'UTR	p.S142I	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	598	-			142						Missense_Mutation	SNP	ENST00000252597.3	37	c.425G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710592	0.48517	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.25414	1.82;1.8	3.85	2.81	0.32909	.	0.494897	0.18405	N	0.142236	T	0.28333	0.0700	L	0.29908	0.895	0.09310	N	1	D;P;D	0.58268	0.982;0.917;0.982	P;B;P	0.55824	0.785;0.445;0.785	T	0.03887	-1.0995	10	0.62326	D	0.03	-1.6175	8.0026	0.30306	0.0:0.8798:0.0:0.1202	.	78;142;142	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	I	142;78;142	ENSP00000252597:S142I;ENSP00000407902:S78I	ENSP00000252597:S142I	S	-	2	0	USHBP1	17234578	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.325000	0.19628	0.943000	0.37553	0.467000	0.42956	AGC		0.677	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		5	68	1	0	0.0381472	1	0.0390147	5	68				
FBXO43	286151	broad.mit.edu	37	8	101153262	101153262	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153262G>T	ENST00000428847.2	-	2	1536	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	407					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCTTTTTTCAGAGTCAGGGTG	0.473																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1219-1221)tCt>tAt		F-box protein 43							104.0	104.0	104.0					8																	101153262		1996	4189	6185	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101153262G>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1220C>A	8.37:g.101153262G>T	ENSP00000403293:p.Ser407Tyr						p.S407Y	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1536	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		407						Missense_Mutation	SNP	ENST00000428847.2	37	c.1220C>A	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.802485	0.00611	.	.	ENSG00000156509	ENST00000428847	T	0.32988	1.43	5.24	1.41	0.22369	.	1.107710	0.06677	N	0.767363	T	0.16471	0.0396	L	0.35414	1.06	0.09310	N	1	B;B	0.22480	0.07;0.039	B;B	0.11329	0.006;0.006	T	0.25984	-1.0116	10	0.02654	T	1	-2.7631	1.3341	0.02141	0.3024:0.1053:0.3938:0.1985	.	373;407	C9J908;Q4G163	.;FBX43_HUMAN	Y	407	ENSP00000403293:S407Y	ENSP00000403293:S407Y	S	-	2	0	FBXO43	101222438	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.261000	0.08694	0.314000	0.23086	0.655000	0.94253	TCT		0.473	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		47	60	1	0	3.10996e-30	1	4.16621e-30	47	60				
NCSTN	23385	broad.mit.edu	37	1	160326407	160326407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160326407C>T	ENST00000294785.5	+	15	1782	c.1657C>T	c.(1657-1659)Cat>Tat	p.H553Y	NCSTN_ENST00000535857.1_Missense_Mutation_p.H415Y|NCSTN_ENST00000392212.4_Missense_Mutation_p.H533Y|NCSTN_ENST00000368063.1_Missense_Mutation_p.H533Y|NCSTN_ENST00000368065.4_Missense_Mutation_p.H295Y	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	553					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTCTTCAACATTACATCGC	0.527																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(1597-1599)Cat>Tat		nicastrin							160.0	162.0	161.0					1																	160326407		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160326407C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1657C>T	1.37:g.160326407C>T	ENSP00000294785:p.His553Tyr					NCSTN_ENST00000535857.1_Missense_Mutation_p.H415Y|NCSTN_ENST00000294785.5_Missense_Mutation_p.H553Y|NCSTN_ENST00000392212.4_Missense_Mutation_p.H533Y|NCSTN_ENST00000368065.4_Missense_Mutation_p.H295Y	p.H533Y			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		16	1877	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		553					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1597C>T	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	3.930	-0.016448	0.07681	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065	T;T;T;T	0.76578	-1.03;-1.03;-0.04;-1.03	5.72	5.72	0.89469	.	0.257949	0.46442	D	0.000284	T	0.54382	0.1855	L	0.57536	1.79	0.40102	D	0.97638	B;B;B	0.30236	0.274;0.015;0.017	B;B;B	0.24541	0.054;0.016;0.008	T	0.56745	-0.7928	10	0.05351	T	0.99	-19.9499	14.1017	0.65059	0.0:0.8494:0.1505:0.0	.	415;533;553	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	Y	553;533;415;260;533;295	ENSP00000294785:H553Y;ENSP00000357042:H533Y;ENSP00000442605:H415Y;ENSP00000376047:H533Y	ENSP00000294785:H553Y	H	+	1	0	NCSTN	158593031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.684000	0.46951	2.699000	0.92147	0.650000	0.86243	CAT		0.527	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		7	105	0	0	0	1	0	7	105				
PHACTR2	9749	broad.mit.edu	37	6	144093464	144093464	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144093464T>G	ENST00000427704.2	+	7	1399	c.1269T>G	c.(1267-1269)tcT>tcG	p.S423S	PHACTR2_ENST00000305766.6_Silent_p.S343S|PHACTR2_ENST00000440869.2_Silent_p.S434S|PHACTR2_ENST00000367584.4_Silent_p.S411S|PHACTR2_ENST00000367582.3_Silent_p.S354S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	423							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGGGCGAATCTTCAGAATCCT	0.512																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1267-1269)tcT>tcG		phosphatase and actin regulator 2							67.0	75.0	72.0					6																	144093464		2115	4243	6358	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144093464T>G	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1269T>G	6.37:g.144093464T>G						PHACTR2_ENST00000367582.3_Silent_p.S354S|PHACTR2_ENST00000440869.2_Silent_p.S434S|PHACTR2_ENST00000367584.4_Silent_p.S411S|PHACTR2_ENST00000305766.6_Silent_p.S343S	p.S423S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	7	1399	+			423					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.1269T>G	CCDS47492.1																																																																																				0.512	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		5	46	0	0	0	1	0	5	46				
RPTN	126638	broad.mit.edu	37	1	152129036	152129036	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152129036G>T	ENST00000316073.3	-	3	603	c.539C>A	c.(538-540)tCt>tAt	p.S180Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	180	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTGTGGTGAGAATCTCTGTC	0.463																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(538-540)tCt>tAt		repetin							495.0	422.0	444.0					1																	152129036		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129036G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.539C>A	1.37:g.152129036G>T	ENSP00000317895:p.Ser180Tyr						p.S180Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	603	-			180			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.539C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556540	0.45487	.	.	ENSG00000215853	ENST00000316073	T	0.13657	2.57	5.17	2.18	0.27775	.	0.000000	0.32640	U	0.005840	T	0.14743	0.0356	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06570	-1.0819	10	0.51188	T	0.08	-0.0721	4.5224	0.11966	0.1878:0.0:0.6368:0.1755	.	180	Q6XPR3	RPTN_HUMAN	Y	180	ENSP00000317895:S180Y	ENSP00000317895:S180Y	S	-	2	0	RPTN	150395660	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	0.684000	0.25364	0.170000	0.19704	0.542000	0.68232	TCT		0.463	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		11	422	1	0	4.36969e-10	1	5.35656e-10	11	422				
COL5A3	50509	broad.mit.edu	37	19	10085059	10085059	+	Missense_Mutation	SNP	C	C	T	rs140683403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10085059C>T	ENST00000264828.3	-	46	3453	c.3368G>A	c.(3367-3369)cGg>cAg	p.R1123Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1123	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGGGGTCCCCGGCGCCCCTG	0.602																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3367-3369)cGg>cAg		collagen, type V, alpha 3		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	36.0	40.0	39.0		3368	3.8	1.0	19	dbSNP_134	39	0,8600		0,0,4300	no	missense	COL5A3	NM_015719.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1123/1746	10085059	1,13005	2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10085059C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3368G>A	19.37:g.10085059C>T	ENSP00000264828:p.Arg1123Gln						p.R1123Q	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		46	3453	-			1123			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3368G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742884	0.69418	2.27E-4	0.0	ENSG00000080573	ENST00000264828	D	0.93307	-3.2	4.89	3.85	0.44370	.	0.000000	0.64402	D	0.000004	D	0.91260	0.7245	N	0.12961	0.28	0.37536	D	0.918117	D	0.71674	0.998	D	0.66602	0.945	D	0.89548	0.3797	10	0.25106	T	0.35	.	10.8402	0.46710	0.0:0.9061:0.0:0.0939	.	1123	P25940	CO5A3_HUMAN	Q	1123	ENSP00000264828:R1123Q	ENSP00000264828:R1123Q	R	-	2	0	COL5A3	9946059	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	3.981000	0.56902	1.039000	0.40074	0.313000	0.20887	CGG		0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		10	22	0	0	0	1	0	10	22				
MTUS1	57509	broad.mit.edu	37	8	17611316	17611316	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17611316C>T	ENST00000262102.6	-	2	2225	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	MTUS1_ENST00000381862.3_Silent_p.K667K|MTUS1_ENST00000381869.3_Silent_p.K667K|MTUS1_ENST00000519263.1_Silent_p.K667K	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	667					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTTTTCACCCTTCTTTTCAG	0.353																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1999-2001)aaG>aaA		microtubule associated tumor suppressor 1							138.0	122.0	127.0					8																	17611316		1839	4083	5922	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611316C>T	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2001G>A	8.37:g.17611316C>T						MTUS1_ENST00000381862.3_Silent_p.K667K|MTUS1_ENST00000262102.6_Silent_p.K667K|MTUS1_ENST00000519263.1_Silent_p.K667K	p.K667K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2474	-			667					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.2001G>A	CCDS43717.1																																																																																				0.353	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		7	64	0	0	0	1	0	7	64				
ASIC3	9311	broad.mit.edu	37	7	150746182	150746182	+	Missense_Mutation	SNP	C	C	A	rs62001891		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150746182C>A	ENST00000349064.5	+	1	408	c.210C>A	c.(208-210)ttC>ttA	p.F70L	ASIC3_ENST00000357922.4_Missense_Mutation_p.F70L|ASIC3_ENST00000297512.8_Missense_Mutation_p.F70L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	70					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										ACAGGGAGTTCCACCACCAGA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15915	0.0		0.0	False		,,,				2504	0.0					ENST00000357922.4																			0											c.(208-210)ttC>ttA		acid-sensing (proton-gated) ion channel 3		C	LEU/PHE,LEU/PHE,LEU/PHE	3,4403	4.2+/-10.8	0,3,2200	103.0	82.0	89.0		210,210,210	3.3	1.0	7	dbSNP_129	89	0,8600		0,0,4300	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	22,22,22	0,3,6500	AA,AC,CC		0.0,0.0681,0.0231	benign,benign,benign	70/532,70/550,70/544	150746182	3,13003	2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746182C>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.210C>A	7.37:g.150746182C>A	ENSP00000344838:p.Phe70Leu					ASIC3_ENST00000349064.5_Missense_Mutation_p.F70L|ASIC3_ENST00000297512.8_Missense_Mutation_p.F70L	p.F70L	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	804	+			70					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.210C>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239222	0.58995	6.81E-4	0.0	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.62639	0.01;0.01;0.01	5.11	3.31	0.37934	.	0.000000	0.35708	U	0.003032	T	0.60521	0.2275	M	0.73217	2.22	0.41310	D	0.987109	B;B;B	0.24823	0.052;0.032;0.112	B;B;B	0.31442	0.062;0.062;0.13	T	0.56463	-0.7975	10	0.35671	T	0.21	-22.0794	9.8433	0.41013	0.0:0.832:0.0:0.168	rs62001891	70;70;70	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	L	70	ENSP00000350600:F70L;ENSP00000344838:F70L;ENSP00000297512:F70L	ENSP00000297512:F70L	F	+	3	2	ACCN3	150377115	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	1.194000	0.32174	0.677000	0.31305	0.561000	0.74099	TTC		0.657	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		17	61	1	0	1.55795e-14	1	1.98882e-14	17	61				
MYLK3	91807	broad.mit.edu	37	16	46771765	46771765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771765C>A	ENST00000394809.4	-	3	974	c.859G>T	c.(859-861)Gga>Tga	p.G287*	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	287					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GACGATGCTCCTTGTCCTGCA	0.662																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(859-861)Gga>Tga		myosin light chain kinase 3							81.0	80.0	81.0					16																	46771765		2203	4300	6503	SO:0001587	stop_gained	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46771765C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.859G>T	16.37:g.46771765C>A	ENSP00000378288:p.Gly287*					MYLK3_ENST00000536476.1_Intron	p.G287*	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			3	974	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	287					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Nonsense_Mutation	SNP	ENST00000394809.4	37	c.859G>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463931	0.84425	.	.	ENSG00000140795	ENST00000394809	.	.	.	5.1	4.14	0.48551	.	1.320320	0.05707	N	0.595281	.	.	.	.	.	.	0.22620	N	0.998921	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.2945	0.37806	0.0:0.9029:0.0:0.0971	.	.	.	.	X	287	.	ENSP00000378288:G287X	G	-	1	0	MYLK3	45329266	0.050000	0.20438	0.004000	0.12327	0.134000	0.20937	1.980000	0.40618	1.358000	0.45922	0.655000	0.94253	GGA		0.662	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		12	89	1	0	2.80697e-09	1	3.39963e-09	12	89				
RAB11FIP4	84440	broad.mit.edu	37	17	29848935	29848935	+	Missense_Mutation	SNP	C	C	T	rs145696920		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29848935C>T	ENST00000325874.8	+	6	990	c.761C>T	c.(760-762)gCg>gTg	p.A254V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A152V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	254	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAATCAGTGCGGGGCAGACG	0.502																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(760-762)gCg>gTg		RAB11 family interacting protein 4 (class II)		C	VAL/ALA	0,4406		0,0,2203	90.0	82.0	85.0		761	6.0	1.0	17	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB11FIP4	NM_032932.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	254/638	29848935	2,13004	2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29848935C>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.761C>T	17.37:g.29848935C>T	ENSP00000312837:p.Ala254Val					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A152V	p.A254V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			6	990	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	254			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.761C>T	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524224	0.85600	0.0	2.33E-4	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.63428	1.95	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	P;P	0.56514	0.768;0.8	T	0.66897	-0.5807	8	.	.	.	-39.629	15.9778	0.80083	0.0:1.0:0.0:0.0	.	152;254	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	V	254	.	.	A	+	2	0	RAB11FIP4	26873055	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.440000	0.66563	2.840000	0.97914	0.655000	0.94253	GCG		0.502	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		12	29	0	0	0	1	0	12	29				
TINAGL1	64129	broad.mit.edu	37	1	32050780	32050780	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32050780T>C	ENST00000271064.7	+	8	962	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	TINAGL1_ENST00000457433.2_Missense_Mutation_p.S265P|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	296					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCCCTTCTCGGGCCGTGA	0.652																																						ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(886-888)Tcg>Ccg		tubulointerstitial nephritis antigen-like 1							127.0	126.0	127.0					1																	32050780		2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050780T>C	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.886T>C	1.37:g.32050780T>C	ENSP00000271064:p.Ser296Pro					TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.S265P	p.S296P	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	8	962	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	296					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.886T>C	CCDS343.1	.	.	.	.	.	.	.	.	.	.	t	12.21	1.869809	0.33069	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.87412	-2.25;-2.25	5.18	1.3	0.21679	Peptidase C1A, papain C-terminal (2);	0.617255	0.17744	N	0.163448	T	0.78729	0.4329	N	0.16233	0.39	0.35944	D	0.833436	P;B	0.35821	0.523;0.355	P;B	0.45377	0.478;0.338	T	0.72928	-0.4143	10	0.30078	T	0.28	.	5.423	0.16409	0.412:0.0:0.2425:0.3455	.	265;296	B4DPK6;Q9GZM7	.;TINAL_HUMAN	P	265;296;284	ENSP00000395137:S265P;ENSP00000271064:S296P	ENSP00000271064:S296P	S	+	1	0	TINAGL1	31823367	0.022000	0.18835	0.953000	0.39169	0.448000	0.32197	0.403000	0.20982	0.381000	0.24851	0.459000	0.35465	TCG		0.652	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		40	67	0	0	0	1	0	40	67				
CATSPERG	57828	broad.mit.edu	37	19	38861280	38861280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38861280G>A	ENST00000409235.3	+	29	3443	c.3328G>A	c.(3328-3330)Gcc>Acc	p.A1110T	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.A1070T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1110					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAACCTCATTGCCTCAGAATC	0.547																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(3328-3330)Gcc>Acc		catsper channel auxiliary subunit gamma							251.0	197.0	215.0					19																	38861280		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38861280G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3328G>A	19.37:g.38861280G>A	ENSP00000386962:p.Ala1110Thr					CATSPERG_ENST00000410018.1_Missense_Mutation_p.A1070T|CATSPERG_ENST00000215069.4_3'UTR	p.A1110T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			29	3443	+			1110					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.3328G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601312	0.28534	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.22336	1.96;1.96	5.43	-1.11	0.09840	.	0.942838	0.08752	N	0.899015	T	0.09686	0.0238	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.16289	0.015;0.015	T	0.37337	-0.9710	10	0.27785	T	0.31	-6.2297	7.6272	0.28218	0.5699:0.0:0.4301:0.0	.	1110;1070	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	T	1070;1110;1110	ENSP00000387057:A1070T;ENSP00000386962:A1110T	ENSP00000386962:A1110T	A	+	1	0	CATSPERG	43553120	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.331000	0.07914	0.058000	0.16222	0.555000	0.69702	GCC		0.547	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		34	44	0	0	0	1	0	34	44				
WWOX	51741	broad.mit.edu	37	16	78466627	78466627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78466627C>T	ENST00000566780.1	+	8	1400	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	WWOX_ENST00000408984.3_Missense_Mutation_p.A345V|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTACCTTGGCGAGGCCTTTC	0.532																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(1033-1035)gCg>gTg		WW domain containing oxidoreductase							167.0	165.0	166.0					16																	78466627		2033	4194	6227	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466627C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1034C>T	16.37:g.78466627C>T	ENSP00000457230:p.Ala345Val					WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V|WWOX_ENST00000406884.2_Intron	p.A345V	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1400	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	345			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1034C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527666	0.27299	.	.	ENSG00000186153	ENST00000408984	T	0.78707	-1.2	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	N	0.16233	0.39	0.53688	D	0.99997	B	0.23442	0.085	B	0.12156	0.007	T	0.56159	-0.8025	10	0.02654	T	1	.	13.5191	0.61557	0.0:0.9289:0.0:0.0711	.	345	Q9NZC7	WWOX_HUMAN	V	345	ENSP00000386161:A345V	ENSP00000386161:A345V	A	+	2	0	WWOX	77024128	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.847000	0.55895	2.814000	0.96858	0.655000	0.94253	GCG		0.532	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			82	141	0	0	0	1	0	82	141				
SGK1	6446	broad.mit.edu	37	6	134491471	134491471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134491471C>T	ENST00000237305.7	-	12	1319	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	SGK1_ENST00000367857.5_Missense_Mutation_p.V401I|SGK1_ENST00000367858.5_Missense_Mutation_p.V506I|SGK1_ENST00000475719.2_Missense_Mutation_p.V367I|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Missense_Mutation_p.V439I|SGK1_ENST00000413996.3_Missense_Mutation_p.V425I	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	411	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCTTCCTTGACGCTGGCTGTG	0.552																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1516-1518)Gtc>Atc		serum/glucocorticoid regulated kinase 1							74.0	70.0	71.0					6																	134491471		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134491471C>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1231G>A	6.37:g.134491471C>T	ENSP00000237305:p.Val411Ile					SGK1_ENST00000475719.2_Missense_Mutation_p.V367I|SGK1_ENST00000413996.3_Missense_Mutation_p.V425I|SGK1_ENST00000237305.7_Missense_Mutation_p.V411I|SGK1_ENST00000528577.1_Missense_Mutation_p.V439I|SGK1_ENST00000367857.5_Missense_Mutation_p.V401I	p.V506I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	14	2113	-	Colorectal(23;0.221)		411					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.1516G>A	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229721	0.39399	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	6.17	6.17	0.99709	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.052097	0.85682	D	0.000000	T	0.32406	0.0828	L	0.33245	0.995	0.80722	D	1	B;B;B;B;B;B	0.19817	0.021;0.003;0.006;0.012;0.039;0.006	B;B;B;B;B;B	0.24269	0.021;0.003;0.013;0.013;0.052;0.013	T	0.09443	-1.0674	10	0.22109	T	0.4	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	439;425;367;401;506;411	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	I	506;425;411;401;439;367	ENSP00000356832:V506I;ENSP00000396242:V425I;ENSP00000237305:V411I;ENSP00000356831:V401I;ENSP00000434450:V439I;ENSP00000434302:V367I	ENSP00000237305:V411I	V	-	1	0	SGK1	134533164	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	4.550000	0.60733	2.941000	0.99782	0.655000	0.94253	GTC		0.552	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			14	13	0	0	0	1	0	14	13				
INTU	27152	broad.mit.edu	37	4	128626764	128626764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626764C>T	ENST00000335251.6	+	11	1688	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	529					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATATGCAGTCATTTGCCCAA	0.368																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1585-1587)Cat>Tat		inturned planar cell polarity protein							173.0	163.0	167.0					4																	128626764		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128626764C>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1585C>T	4.37:g.128626764C>T	ENSP00000334003:p.His529Tyr					INTU_ENST00000512995.1_3'UTR	p.H529Y	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			11	1688	+			529					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1585C>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294149	0.60086	.	.	ENSG00000164066	ENST00000335251;ENST00000506283	T;T	0.49139	0.79;0.79	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75377	-0.3339	10	0.87932	D	0	-15.1457	18.7488	0.91806	0.0:1.0:0.0:0.0	.	529	Q9ULD6	PDZD6_HUMAN	Y	529;43	ENSP00000334003:H529Y;ENSP00000426171:H43Y	ENSP00000334003:H529Y	H	+	1	0	INTU	128846214	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.175000	0.77632	2.437000	0.82529	0.467000	0.42956	CAT		0.368	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		47	100	0	0	0	1	0	47	100				
MAPK3	5595	broad.mit.edu	37	16	30128550	30128550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30128550G>A	ENST00000263025.4	-	6	916	c.832C>T	c.(832-834)Cga>Tga	p.R278*	MAPK3_ENST00000484663.1_Nonsense_Mutation_p.R164*|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000403394.1_Nonsense_Mutation_p.R278*|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000395200.1_Nonsense_Mutation_p.R210*|MAPK3_ENST00000395199.3_Nonsense_Mutation_p.R278*|MAPK3_ENST00000494643.1_5'Flank	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	AGGTAGTTTCGGGCCTTCATG	0.517																																						ENST00000484663.1																			0											c.(490-492)Cga>Tga		mitogen-activated protein kinase 3	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						132.0	121.0	125.0					16																	30128550		2197	4300	6497	SO:0001587	stop_gained	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30128550G>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.832C>T	16.37:g.30128550G>A	ENSP00000263025:p.Arg278*					MAPK3_ENST00000403394.1_Nonsense_Mutation_p.R278*|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000263025.4_Nonsense_Mutation_p.R278*|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000395199.3_Nonsense_Mutation_p.R278*|MAPK3_ENST00000395200.1_Nonsense_Mutation_p.R210*	p.R164*			P27361	MK03_HUMAN			5	1623	-			278			Protein kinase.		A8CZ58|B0LPG3|Q8NHX1	Nonsense_Mutation	SNP	ENST00000263025.4	37	c.490C>T	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	G	36	5.877065	0.97055	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000403394;ENST00000395200;ENST00000478356;ENST00000395199	.	.	.	5.7	4.71	0.59529	.	0.059779	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9623	12.9088	0.58169	0.0:0.0:0.7138:0.2862	.	.	.	.	X	278;164;278;210;41;278	.	ENSP00000263025:R278X	R	-	1	2	MAPK3	30036051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.645000	0.46621	2.688000	0.91661	0.591000	0.81541	CGA		0.517	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			15	43	0	0	0	1	0	15	43				
DKK1	22943	broad.mit.edu	37	10	54076370	54076370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54076370G>A	ENST00000373970.3	+	4	743	c.604G>A	c.(604-606)Gct>Act	p.A202T	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	202	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						ATTGTGTTGTGCTAGACACTT	0.433																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(604-606)Gct>Act		dickkopf WNT signaling pathway inhibitor 1							135.0	122.0	126.0					10																	54076370		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076370G>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.604G>A	10.37:g.54076370G>A	ENSP00000363081:p.Ala202Thr						p.A202T	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			4	743	+			202			DKK-type Cys-2.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.604G>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345618	0.95807	.	.	ENSG00000107984	ENST00000373970	T	0.63580	-0.05	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82965	-0.0195	10	0.87932	D	0	-7.2195	19.688	0.95987	0.0:0.0:1.0:0.0	.	202	O94907	DKK1_HUMAN	T	202	ENSP00000363081:A202T	ENSP00000363081:A202T	A	+	1	0	DKK1	53746376	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	GCT		0.433	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			41	83	0	0	0	1	0	41	83				
ALG1L	200810	broad.mit.edu	37	3	125647534	125647534	+	IGR	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125647534G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CACTGGACTGGAATGTTTGGA	0.443																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647534G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647534G>A								NR_024251.1						0	679	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.443	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		7	16	0	0	0	1	0	7	16				
MAGEE1	57692	broad.mit.edu	37	X	75649430	75649430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75649430G>A	ENST00000361470.2	+	1	1385	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	369	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCTGTGCCGCCCACCGCCT	0.672																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1105-1107)ccG>ccA		melanoma antigen family E, 1							33.0	26.0	28.0					X																	75649430		2203	4297	6500	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649430G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1107G>A	X.37:g.75649430G>A							p.P369P	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1385	+			369			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.1107G>A	CCDS14433.1																																																																																				0.672	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		7	15	0	0	0	1	0	7	15				
TPM3	7170	broad.mit.edu	37	1	154163714	154163714	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154163714G>T	ENST00000368530.2	-	2	383	c.191C>A	c.(190-192)gCt>gAt	p.A64D	TPM3_ENST00000271850.7_Missense_Mutation_p.A64D|MIR190B_ENST00000401119.1_RNA	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	64					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATCCTTCAAAGCTTCAGAATA	0.488			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368530.2				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(190-192)gCt>gAt		tropomyosin 3							138.0	141.0	140.0					1																	154163714		2188	4289	6477	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154163714G>T	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.191C>A	1.37:g.154163714G>T	ENSP00000357516:p.Ala64Asp					TPM3_ENST00000271850.7_Missense_Mutation_p.A64D	p.A64D	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN			2	383	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		63					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.191C>A	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879266	0.72294	.	.	ENSG00000143549	ENST00000271850;ENST00000368530;ENST00000515609	T;T;D	0.88354	-1.27;-1.27;-2.37	6.02	6.02	0.97574	.	0.281504	0.38778	N	0.001565	D	0.84056	0.5388	L	0.45422	1.42	0.48511	D	0.99966	B	0.29936	0.262	B	0.38106	0.265	T	0.80276	-0.1450	10	0.25106	T	0.35	-1.7515	19.5254	0.95203	0.0:0.0:1.0:0.0	.	63	P06753	TPM3_HUMAN	D	64	ENSP00000271850:A64D;ENSP00000357516:A64D;ENSP00000426306:A64D	ENSP00000271850:A64D	A	-	2	0	TPM3	152430338	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	9.743000	0.98849	2.857000	0.98124	0.650000	0.86243	GCT		0.488	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		21	87	1	0	2.37509e-13	1	3.01126e-13	21	87				
MAP3K12	7786	broad.mit.edu	37	12	53879183	53879183	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53879183T>C	ENST00000267079.2	-	6	1024	c.799A>G	c.(799-801)Aag>Gag	p.K267E	MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300E|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300E|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGACATCTTGGTGCTCTTG	0.507																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(799-801)Aag>Gag		mitogen-activated protein kinase kinase kinase 12							218.0	209.0	212.0					12																	53879183		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879183T>C	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.799A>G	12.37:g.53879183T>C	ENSP00000267079:p.Lys267Glu					MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300E|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300E	p.K267E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			6	1024	-			267			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.799A>G	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582436	0.65992	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.83075	-1.68;-1.68;-1.68	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000284	T	0.79997	0.4543	N	0.20807	0.61	0.54753	D	0.999986	P;P	0.37548	0.544;0.599	B;P	0.48304	0.437;0.573	T	0.82313	-0.0519	10	0.62326	D	0.03	.	13.8275	0.63359	0.0:0.0:0.0:1.0	.	300;267	G3V1Y2;Q12852	.;M3K12_HUMAN	E	267;300;300	ENSP00000267079:K267E;ENSP00000449038:K300E;ENSP00000448689:K300E	ENSP00000267079:K267E	K	-	1	0	MAP3K12	52165450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.171000	0.68590	0.459000	0.35465	AAG		0.507	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		108	153	0	0	0	1	0	108	153				
MAP2	4133	broad.mit.edu	37	2	210559424	210559424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559424C>T	ENST00000360351.4	+	7	3036	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R840C|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	844					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGAGGATAGTCGTACTGGCTT	0.493																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2530-2532)Cgt>Tgt		microtubule-associated protein 2	Estramustine(DB01196)						106.0	105.0	105.0					2																	210559424		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559424C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2530C>T	2.37:g.210559424C>T	ENSP00000353508:p.Arg844Cys					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R840C	p.R844C	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3036	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	844					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2530C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269761	0.23221	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18810	2.19;2.19	5.54	-1.48	0.08745	MAP2/Tau projection (1);	0.244991	0.36002	N	0.002845	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	P;P	0.44344	0.799;0.833	B;B	0.42112	0.258;0.376	T	0.23154	-1.0196	10	0.87932	D	0	-0.0211	2.9248	0.05780	0.3283:0.3759:0.0677:0.228	.	840;844	P11137-3;P11137	.;MAP2_HUMAN	C	844;840	ENSP00000353508:R844C;ENSP00000392164:R840C	ENSP00000353508:R844C	R	+	1	0	MAP2	210267669	0.000000	0.05858	0.015000	0.15790	0.826000	0.46750	-0.733000	0.04898	-0.227000	0.09884	-0.271000	0.10264	CGT		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	94	0	0	0	1	0	5	94				
MOV10L1	54456	broad.mit.edu	37	22	50552133	50552133	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50552133A>G	ENST00000262794.5	+	6	883	c.800A>G	c.(799-801)aAc>aGc	p.N267S	MOV10L1_ENST00000395858.3_Missense_Mutation_p.N267S|MOV10L1_ENST00000540615.1_Missense_Mutation_p.N247S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.N267S|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	267					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGAAGAACAAAGGTGAT	0.463																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(799-801)aAc>aGc		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							110.0	101.0	104.0					22																	50552133		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552133A>G	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.800A>G	22.37:g.50552133A>G	ENSP00000262794:p.Asn267Ser					MOV10L1_ENST00000540615.1_Missense_Mutation_p.N247S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.N267S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.N267S	p.N267S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	883	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	267					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.800A>G	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033216	0.54896	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86956	-2.01;-2.01;-1.6;-2.19	6.17	6.17	0.99709	.	0.041064	0.85682	D	0.000000	D	0.90528	0.7032	M	0.71581	2.175	0.80722	D	1	D;P;P;P	0.57899	0.981;0.948;0.914;0.952	P;P;B;B	0.53649	0.731;0.547;0.345;0.345	D	0.89963	0.4088	10	0.40728	T	0.16	-40.7698	15.8048	0.78491	1.0:0.0:0.0:0.0	.	28;247;267;267	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	S	267;267;267;247	ENSP00000438978:N267S;ENSP00000262794:N267S;ENSP00000379199:N267S;ENSP00000438542:N247S	ENSP00000262794:N267S	N	+	2	0	MOV10L1	48894260	1.000000	0.71417	0.974000	0.42286	0.043000	0.13939	5.025000	0.64097	2.371000	0.80710	0.533000	0.62120	AAC		0.463	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		10	70	0	0	0	1	0	10	70				
GRHL2	79977	broad.mit.edu	37	8	102631870	102631870	+	Missense_Mutation	SNP	G	G	A	rs201327204		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102631870G>A	ENST00000251808.3	+	9	1540	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	GRHL2_ENST00000395927.1_Missense_Mutation_p.R385H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	401					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TATAACAATCGTAGCAATAAA	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.0					ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1201-1203)cGt>cAt		grainyhead-like 2 (Drosophila)							108.0	107.0	107.0					8																	102631870		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102631870G>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1202G>A	8.37:g.102631870G>A	ENSP00000251808:p.Arg401His					GRHL2_ENST00000395927.1_Missense_Mutation_p.R385H	p.R401H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		9	1540	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		401					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.1202G>A	CCDS34931.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	31	5.102552	0.94245	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.17691	2.26;2.26	5.85	5.85	0.93711	CP2 transcription factor (1);	0.091236	0.85682	D	0.000000	T	0.32615	0.0835	L	0.31804	0.96	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.01093	-1.1454	10	0.45353	T	0.12	-13.2118	20.1634	0.98142	0.0:0.0:1.0:0.0	.	401	Q6ISB3	GRHL2_HUMAN	H	401;385;401	ENSP00000251808:R401H;ENSP00000379260:R385H	ENSP00000251808:R401H	R	+	2	0	GRHL2	102701046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.773000	0.95371	0.655000	0.94253	CGT		0.363	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		31	58	0	0	0	1	0	31	58				
KALRN	8997	broad.mit.edu	37	3	124215217	124215217	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124215217C>A	ENST00000240874.3	+	33	5043	c.4886C>A	c.(4885-4887)tCc>tAc	p.S1629Y	KALRN_ENST00000460856.1_Missense_Mutation_p.S1620Y|KALRN_ENST00000360013.3_Missense_Mutation_p.S1629Y	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1629					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACACCATCTCCATTGCTTCT	0.547																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4885-4887)tCc>tAc		kalirin, RhoGEF kinase							137.0	129.0	132.0					3																	124215217		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124215217C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4886C>A	3.37:g.124215217C>A	ENSP00000240874:p.Ser1629Tyr					KALRN_ENST00000460856.1_Missense_Mutation_p.S1620Y|KALRN_ENST00000240874.3_Missense_Mutation_p.S1629Y	p.S1629Y	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			33	5013	+			1629					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4886C>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.742229|4.742229	0.89573|0.89573	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.22539	.|1.95;1.95;1.95	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.062780	.|0.64402	.|D	.|0.000004	T|T	0.49508|0.49508	0.1561|0.1561	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.987;0.995;0.996	.|P;D;D	.|0.75484	.|0.873;0.986;0.967	T|T	0.49041|0.49041	-0.8980|-0.8980	5|10	.|0.87932	.|D	.|0	.|.	19.3982|19.3982	0.94617|0.94617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1620;1629;1629	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|Y	1598|1620;1629;1629	.|ENSP00000418611:S1620Y;ENSP00000240874:S1629Y;ENSP00000353109:S1629Y	.|ENSP00000240874:S1629Y	P|S	+|+	1|2	0|0	KALRN|KALRN	125697907|125697907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.609000|7.609000	0.82925|0.82925	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.547	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		10	61	1	0	0.000151284	1	0.000166931	10	61				
PADI3	51702	broad.mit.edu	37	1	17593293	17593293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17593293T>C	ENST00000375460.3	+	5	528	c.488T>C	c.(487-489)gTc>gCc	p.V163A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	163					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCTGTGATGTCCAGGACAAT	0.602																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(487-489)gTc>gCc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						197.0	153.0	168.0					1																	17593293		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17593293T>C	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.488T>C	1.37:g.17593293T>C	ENSP00000364609:p.Val163Ala						p.V163A	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	5	528	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	163					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.488T>C	CCDS179.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.680642	0.00745	.	.	ENSG00000142619	ENST00000375460	T	0.15834	2.39	4.85	-2.41	0.06562	Protein-arginine deiminase (PAD), central domain (2);	0.956127	0.08818	N	0.889260	T	0.03053	0.0090	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36792	-0.9733	10	0.08599	T	0.76	-1.7065	0.5247	0.00618	0.264:0.1272:0.2661:0.3427	.	163	Q9ULW8	PADI3_HUMAN	A	163	ENSP00000364609:V163A	ENSP00000364609:V163A	V	+	2	0	PADI3	17465880	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.089000	0.15002	-0.711000	0.04995	-0.527000	0.04329	GTC		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			43	49	0	0	0	1	0	43	49				
SLC12A9	56996	broad.mit.edu	37	7	100452273	100452273	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100452273G>T	ENST00000354161.3	+	3	338	c.213G>T	c.(211-213)caG>caT	p.Q71H	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Q71H|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Q71H	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	71					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTACTGCAGGCCCTGGCCA	0.632																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(211-213)caG>caT		solute carrier family 12, member 9							107.0	88.0	94.0					7																	100452273		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100452273G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.213G>T	7.37:g.100452273G>T	ENSP00000275730:p.Gln71His					SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Q71H|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Q71H	p.Q71H	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			3	338	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		71					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.213G>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	7.367	0.625935	0.14257	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000354161;ENST00000434158	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	4.59	3.47	0.39725	Amino acid permease domain (1);	0.085963	0.48286	D	0.000187	D	0.96021	0.8704	L	0.37800	1.135	0.39017	D	0.959679	B	0.28584	0.216	B	0.36378	0.223	D	0.93459	0.6809	10	0.16420	T	0.52	.	8.519	0.33264	0.1308:0.0:0.8692:0.0	.	71	Q9BXP2	S12A9_HUMAN	H	71	ENSP00000443702:Q71H;ENSP00000408301:Q71H;ENSP00000275730:Q71H;ENSP00000408571:Q71H	ENSP00000275730:Q71H	Q	+	3	2	SLC12A9	100290209	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.188000	0.42612	2.100000	0.63781	0.205000	0.17691	CAG		0.632	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		5	97	1	0	0.0215528	1	0.0221649	5	97				
PTH	5741	broad.mit.edu	37	11	13514211	13514211	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13514211T>G	ENST00000282091.1	-	3	203	c.89A>C	c.(88-90)aAg>aCg	p.K30T	PTH_ENST00000529816.1_Missense_Mutation_p.K30T	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	30					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CACAGATCTCTTCCTGGGAAG	0.438																																						ENST00000282091.1																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(88-90)aAg>aCg		parathyroid hormone							65.0	67.0	67.0					11																	13514211		2200	4294	6494	SO:0001583	missense	5741				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	g.chr11:13514211T>G	J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.89A>C	11.37:g.13514211T>G	ENSP00000282091:p.Lys30Thr					PTH_ENST00000529816.1_Missense_Mutation_p.K30T	p.K30T	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)	3	203	-			30					Q4VB48|Q9UD38	Missense_Mutation	SNP	ENST00000282091.1	37	c.89A>C	CCDS7812.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609201	0.66558	.	.	ENSG00000152266	ENST00000282091;ENST00000529816	D;D	0.87029	-2.2;-2.2	5.77	3.44	0.39384	.	0.050191	0.85682	D	0.000000	D	0.90793	0.7109	M	0.70275	2.135	0.39452	D	0.967426	D	0.54964	0.969	P	0.62813	0.907	D	0.90002	0.4115	10	0.87932	D	0	-14.4836	8.9276	0.35650	0.0:0.1481:0.0:0.8519	.	30	P01270	PTHY_HUMAN	T	30	ENSP00000282091:K30T;ENSP00000433208:K30T	ENSP00000282091:K30T	K	-	2	0	PTH	13470787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.414000	0.34736	0.445000	0.26639	0.528000	0.53228	AAG		0.438	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315		4	66	0	0	0	1	0	4	66				
KIAA1257	57501	broad.mit.edu	37	3	128706483	128706483	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706483C>T	ENST00000265068.5	-	4	810	c.643G>A	c.(643-645)Gac>Aac	p.D215N	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D103N|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D215N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GCTCCCACGTCGTCTGTGAAG	0.423																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(643-645)Gac>Aac		KIAA1257							127.0	124.0	125.0					3																	128706483		1844	4081	5925	SO:0001583	missense	57501							g.chr3:128706483C>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.643G>A	3.37:g.128706483C>T	ENSP00000265068:p.Asp215Asn					KIAA1257_ENST00000515659.1_Missense_Mutation_p.D103N|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D215N	p.D215N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			4	810	-			215					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.643G>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879470	0.33162	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	3.35	0.38373	.	0.152178	0.30556	N	0.009373	T	0.27384	0.0672	N	0.24115	0.695	0.09310	N	1	B;B	0.21753	0.06;0.06	B;B	0.20384	0.029;0.029	T	0.19031	-1.0318	9	0.52906	T	0.07	-16.1089	8.4592	0.32917	0.0:0.8165:0.0:0.1835	.	215;215	Q9ULG3;D6RH05	K1257_HUMAN;.	N	215;215;103	.	ENSP00000265068:D215N	D	-	1	0	KIAA1257	130189173	0.072000	0.21174	0.001000	0.08648	0.005000	0.04900	1.412000	0.34714	0.673000	0.31224	-0.224000	0.12420	GAC		0.423	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		25	44	0	0	0	1	0	25	44				
PRKCQ	5588	broad.mit.edu	37	10	6549437	6549437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6549437G>A	ENST00000263125.5	-	4	439	c.340C>T	c.(340-342)Cga>Tga	p.R114*	PRKCQ_ENST00000539722.1_Intron|PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.R114*	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	114	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATTAGCATTCGGCCTTGAGGT	0.468																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(340-342)Cga>Tga		protein kinase C, theta							295.0	260.0	272.0					10																	6549437		2203	4300	6503	SO:0001587	stop_gained	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6549437G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.340C>T	10.37:g.6549437G>A	ENSP00000263125:p.Arg114*					PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.R114*|PRKCQ_ENST00000539722.1_Intron	p.R114*	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			4	439	-			114			C2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Nonsense_Mutation	SNP	ENST00000263125.5	37	c.340C>T	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267855	0.97426	.	.	ENSG00000065675	ENST00000263125;ENST00000397176	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	12.6503	0.56757	0.0:0.0:0.7114:0.2886	.	.	.	.	X	114	.	ENSP00000263125:R114X	R	-	1	2	PRKCQ	6589443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.227000	0.58612	2.531000	0.85337	0.563000	0.77884	CGA		0.468	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		65	110	0	0	0	1	0	65	110				
USP31	57478	broad.mit.edu	37	16	23080469	23080469	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23080469T>G	ENST00000219689.7	-	16	2956	c.2957A>C	c.(2956-2958)aAt>aCt	p.N986T	USP31_ENST00000567975.1_Missense_Mutation_p.N279T	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GATCTGATTATTGTTATCAAA	0.532																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2956-2958)aAt>aCt		ubiquitin specific peptidase 31							77.0	81.0	80.0					16																	23080469		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080469T>G	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2957A>C	16.37:g.23080469T>G	ENSP00000219689:p.Asn986Thr					USP31_ENST00000567975.1_Missense_Mutation_p.N279T	p.N986T	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2956	-			986			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2957A>C	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.612073	0.46631	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.16897	2.31	6.06	6.06	0.98353	.	3.044690	0.01493	N	0.017181	T	0.40932	0.1137	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.80764	0.991;0.98;0.994	T	0.00185	-1.1943	10	0.51188	T	0.08	-27.1635	15.7938	0.78394	0.0:0.0:0.0:1.0	.	289;986;279	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	T	986;289	ENSP00000219689:N986T	ENSP00000219689:N986T	N	-	2	0	USP31	22987970	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	5.937000	0.70162	2.322000	0.78497	0.528000	0.53228	AAT		0.532	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		5	85	0	0	0	1	0	5	85				
PDXDC2P	283970	broad.mit.edu	37	16	70010629	70010629	+	RNA	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70010629T>G	ENST00000531894.1	-	0	3754				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										GCTGCCGCCATTCTGACCTGT	0.517																																						ENST00000532298.1																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(649-651)Atg>Ctg																																								0							g.chr16:70010629T>G			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010629T>G						PDXDC2P_ENST00000531894.1_RNA	p.M217L							7	648	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.649A>C		.	.	.	.	.	.	.	.	.	.	.	2.154	-0.393749	0.04899	.	.	ENSG00000226232	ENST00000532298	T	0.50813	0.73	0.498	-0.996	0.10218	.	.	.	.	.	T	0.44519	0.1297	.	.	.	.	.	.	.	.	.	.	.	.	T	0.52689	-0.8542	4	0.87932	D	0	.	.	.	.	.	.	.	.	L	217	ENSP00000448651:M217L	ENSP00000448651:M217L	M	-	1	0	RP11-419C5.2	68568130	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.566000	0.23593	-0.523000	0.06409	-0.599000	0.04106	ATG		0.517	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			4	33	0	0	0	1	0	4	33				
STARD8	9754	broad.mit.edu	37	X	67937777	67937777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67937777C>T	ENST00000252336.6	+	5	1153	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	STARD8_ENST00000374597.3_Missense_Mutation_p.R261C|STARD8_ENST00000374599.3_Missense_Mutation_p.R341C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	261					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGTGAGGGGCGCCGGGGCTC	0.637																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(781-783)Cgc>Tgc		StAR-related lipid transfer (START) domain containing 8							25.0	20.0	22.0					X																	67937777		2202	4298	6500	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937777C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.781C>T	X.37:g.67937777C>T	ENSP00000252336:p.Arg261Cys					STARD8_ENST00000374599.3_Missense_Mutation_p.R341C|STARD8_ENST00000374597.3_Missense_Mutation_p.R261C	p.R261C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1153	+			261					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.781C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.809341	0.50421	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.12569	2.67;2.7;2.67	4.24	3.38	0.38709	.	0.065215	0.56097	N	0.000030	T	0.15782	0.0380	M	0.79123	2.44	0.40057	D	0.97584	B;B	0.24882	0.113;0.069	B;B	0.16722	0.016;0.007	T	0.05869	-1.0859	10	0.87932	D	0	.	5.1234	0.14871	0.0:0.6733:0.2085:0.1182	.	341;261	Q92502-2;Q92502	.;STAR8_HUMAN	C	261;341;261	ENSP00000252336:R261C;ENSP00000363727:R341C;ENSP00000363725:R261C	ENSP00000252336:R261C	R	+	1	0	STARD8	67854502	0.004000	0.15560	0.928000	0.36995	0.867000	0.49689	1.746000	0.38288	0.814000	0.34374	0.597000	0.82753	CGC		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		7	5	0	0	0	1	0	7	5				
SVEP1	79987	broad.mit.edu	37	9	113168817	113168817	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113168817A>C	ENST00000401783.2	-	38	9399	c.9063T>G	c.(9061-9063)gaT>gaG	p.D3021E	SVEP1_ENST00000374469.1_Missense_Mutation_p.D2998E|SVEP1_ENST00000297826.5_Missense_Mutation_p.D947E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3021	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACAGTCAAAATCTGTCCCAT	0.522																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9061-9063)gaT>gaG		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							30.0	32.0	31.0					9																	113168817		1936	4131	6067	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168817A>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9063T>G	9.37:g.113168817A>C	ENSP00000384917:p.Asp3021Glu					SVEP1_ENST00000374469.1_Missense_Mutation_p.D2998E|SVEP1_ENST00000297826.5_Missense_Mutation_p.D947E	p.D3021E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9399	-			3021			Sushi 27.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9063T>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401539	0.62288	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.24723	1.84;1.84;1.84	5.76	0.681	0.17986	Complement control module (2);Sushi/SCR/CCP (3);	0.093090	0.64402	N	0.000001	T	0.23727	0.0574	L	0.53617	1.68	0.80722	D	1	P	0.43938	0.822	P	0.48488	0.579	T	0.28267	-1.0049	10	0.07482	T	0.82	.	6.2903	0.21057	0.6176:0.2514:0.1311:0.0	.	3021	Q4LDE5	SVEP1_HUMAN	E	3021;2998;947	ENSP00000384917:D3021E;ENSP00000363593:D2998E;ENSP00000297826:D947E	ENSP00000297826:D947E	D	-	3	2	SVEP1	112208638	1.000000	0.71417	0.947000	0.38551	0.957000	0.61999	1.383000	0.34385	-0.106000	0.12110	0.482000	0.46254	GAT		0.522	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	13	0	0	0	1	0	11	13				
ZSCAN31	64288	broad.mit.edu	37	6	28297126	28297126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28297126G>A	ENST00000414429.1	-	6	1238	c.335C>T	c.(334-336)gCt>gTt	p.A112V	ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.A112V|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.A112V|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.A112V			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	112	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCAACTACAGCCACAGCCTC	0.537																																						ENST00000414429.1																			0											c.(334-336)gCt>gTt		zinc finger and SCAN domain containing 31							146.0	163.0	157.0					6																	28297126		2203	4300	6503	SO:0001583	missense	64288							g.chr6:28297126G>A		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.335C>T	6.37:g.28297126G>A	ENSP00000390076:p.Ala112Val					ZSCAN31_ENST00000344279.6_Missense_Mutation_p.A112V|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.A112V|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.A112V	p.A112V							6	1238	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.335C>T	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496706	0.85069	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021	T;T;T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4;3.4;3.4	4.37	1.29	0.21616	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01905	0.0060	L	0.28608	0.87	0.09310	N	1	B	0.34181	0.44	B	0.40782	0.34	T	0.48502	-0.9030	9	0.31617	T	0.26	.	4.4378	0.11559	0.0952:0.2188:0.5531:0.1329	.	112	Q96LW9	ZN323_HUMAN	V	112	ENSP00000380050:A112V;ENSP00000413705:A112V;ENSP00000390076:A112V;ENSP00000345339:A112V;ENSP00000389479:A112V;ENSP00000412519:A112V;ENSP00000416108:A112V	ENSP00000345339:A112V	A	-	2	0	ZNF323	28405105	0.000000	0.05858	0.006000	0.13384	0.931000	0.56810	0.174000	0.16743	0.936000	0.37367	0.563000	0.77884	GCT		0.537	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		27	182	0	0	0	1	0	27	182				
C5	727	broad.mit.edu	37	9	123732462	123732462	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123732462G>A	ENST00000223642.1	-	32	4177	c.4148C>T	c.(4147-4149)aCt>aTt	p.T1383I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1383					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AATATCCTGAGTATCGATTTT	0.343																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4147-4149)aCt>aTt		complement component 5	Eculizumab(DB01257)						111.0	102.0	105.0					9																	123732462		2202	4300	6502	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123732462G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4148C>T	9.37:g.123732462G>A	ENSP00000223642:p.Thr1383Ile						p.T1383I	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	32	4177	-			1383					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4148C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165215	0.01673	.	.	ENSG00000106804	ENST00000223642	T	0.30448	1.53	5.42	2.59	0.31030	Alpha-macroglobulin, receptor-binding (2);	0.672316	0.15579	N	0.255005	T	0.18509	0.0444	N	0.26130	0.795	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22906	-1.0203	10	0.20519	T	0.43	.	7.6263	0.28214	0.2641:0.0:0.7359:0.0	.	1383	P01031	CO5_HUMAN	I	1383	ENSP00000223642:T1383I	ENSP00000223642:T1383I	T	-	2	0	C5	122772283	0.002000	0.14202	0.019000	0.16419	0.102000	0.19082	0.532000	0.23067	0.667000	0.31107	0.655000	0.94253	ACT		0.343	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		13	25	0	0	0	1	0	13	25				
HNRNPR	10236	broad.mit.edu	37	1	23650213	23650213	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23650213T>C	ENST00000374612.1	-	6	634	c.511A>G	c.(511-513)Aaa>Gaa	p.K171E	HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Missense_Mutation_p.K171E|HNRNPR_ENST00000478691.1_Missense_Mutation_p.K70E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.K133E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.K32E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.K171E	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	171	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTGGTATTTTGCCTACAAAT	0.408																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(208-210)Aaa>Gaa		heterogeneous nuclear ribonucleoprotein R							73.0	78.0	76.0					1																	23650213		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23650213T>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.511A>G	1.37:g.23650213T>C	ENSP00000363741:p.Lys171Glu					HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374612.1_Missense_Mutation_p.K171E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.K171E|HNRNPR_ENST00000302271.6_Missense_Mutation_p.K171E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.K133E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.K32E	p.K70E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	479	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	171			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.208A>G	CCDS232.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820573	0.90873	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	T;T;T;T	0.42131	0.98;0.98;0.98;1.31	5.14	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.994;0.999;0.995;0.998	D;D;D;D;D	0.87578	0.998;0.973;0.988;0.974;0.979	T	0.72792	-0.4186	10	0.87932	D	0	-5.7234	14.0871	0.64964	0.0:0.0:0.0:1.0	.	133;32;148;171;171	Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;HNRPR_HUMAN;.	E	171;171;171;133	ENSP00000363745:K171E;ENSP00000363741:K171E;ENSP00000304405:K171E;ENSP00000392799:K133E	ENSP00000304405:K171E	K	-	1	0	HNRNPR	23522800	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.902000	0.87389	2.076000	0.62316	0.459000	0.35465	AAA		0.408	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		7	62	0	0	0	1	0	7	62				
PAG1	55824	broad.mit.edu	37	8	81899628	81899628	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81899628T>G	ENST00000220597.4	-	6	961	c.251A>C	c.(250-252)aAt>aCt	p.N84T		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	84					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGTGCCCCATTCTGCTCACT	0.463																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(250-252)aAt>aCt		phosphoprotein associated with glycosphingolipid microdomains 1							157.0	139.0	145.0					8																	81899628		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81899628T>G	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.251A>C	8.37:g.81899628T>G	ENSP00000220597:p.Asn84Thr						p.N84T	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		6	961	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		84					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.251A>C	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342185	0.81911	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.81167	-0.1056	9	0.87932	D	0	-34.0347	15.9461	0.79796	0.0:0.0:0.0:1.0	.	84	Q9NWQ8	PAG1_HUMAN	T	84	.	ENSP00000220597:N84T	N	-	2	0	PAG1	82062183	1.000000	0.71417	0.994000	0.49952	0.896000	0.52359	5.501000	0.66950	2.153000	0.67306	0.528000	0.53228	AAT		0.463	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		5	43	0	0	0	1	0	5	43				
POU5F2	134187	broad.mit.edu	37	5	93076929	93076929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076929G>A	ENST00000510627.4	-	1	414	c.341C>T	c.(340-342)cCg>cTg	p.P114L	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	114					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCTGGCGGCGGCAACTTCGG	0.627																																						ENST00000510627.4																			0											c.(340-342)cCg>cTg		POU domain class 5, transcription factor 2							71.0	71.0	71.0					5																	93076929		1969	4139	6108	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076929G>A		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.341C>T	5.37:g.93076929G>A	ENSP00000464890:p.Pro114Leu					FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron	p.P114L	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	414	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	114					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.341C>T	CCDS59489.1																																																																																				0.627	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		12	28	0	0	0	1	0	12	28				
OGDH	4967	broad.mit.edu	37	7	44737282	44737282	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737282G>A	ENST00000222673.5	+	17	2301	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	OGDH_ENST00000449767.1_Silent_p.T749T|OGDH_ENST00000447398.1_Silent_p.T764T|OGDH_ENST00000439616.2_Silent_p.T603T|OGDH_ENST00000444676.1_Silent_p.T768T|OGDH_ENST00000543843.1_Silent_p.T704T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	753					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCCACAACACGGCCCAGTGTA	0.582																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2257-2259)acG>acA		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						139.0	124.0	129.0					7																	44737282		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737282G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2259G>A	7.37:g.44737282G>A						OGDH_ENST00000449767.1_Silent_p.T749T|OGDH_ENST00000439616.2_Silent_p.T603T|OGDH_ENST00000444676.1_Silent_p.T768T|OGDH_ENST00000447398.1_Silent_p.T764T|OGDH_ENST00000543843.1_Silent_p.T704T	p.T753T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			17	2301	+			753					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2259G>A	CCDS34627.1																																																																																				0.582	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			8	94	0	0	0	1	0	8	94				
C17orf53	78995	broad.mit.edu	37	17	42225804	42225804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42225804G>T	ENST00000319977.4	+	3	870	c.633G>T	c.(631-633)aaG>aaT	p.K211N	C17orf53_ENST00000245382.6_Missense_Mutation_p.K211N|C17orf53_ENST00000585683.1_Missense_Mutation_p.K211N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	211										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTGCCAGAAGGGGCCTGTGC	0.562																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(631-633)aaG>aaT		chromosome 17 open reading frame 53							102.0	104.0	103.0					17																	42225804		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225804G>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.633G>T	17.37:g.42225804G>T	ENSP00000313500:p.Lys211Asn					C17orf53_ENST00000585683.1_Missense_Mutation_p.K211N|C17orf53_ENST00000245382.6_Missense_Mutation_p.K211N	p.K211N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	870	+		Breast(137;0.0364)|Prostate(33;0.0376)	211					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.633G>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347104	0.41599	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.49720	0.77;0.77	5.15	-2.28	0.06826	.	1.265570	0.05412	N	0.542634	T	0.35128	0.0921	L	0.46157	1.445	0.09310	N	1	B;B;B	0.24823	0.112;0.004;0.112	B;B;B	0.17722	0.019;0.007;0.019	T	0.26395	-1.0104	10	0.37606	T	0.19	-0.2215	3.1863	0.06602	0.3853:0.0:0.3121:0.3025	.	211;211;211	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	N	211	ENSP00000313500:K211N;ENSP00000245382:K211N	ENSP00000245382:K211N	K	+	3	2	C17orf53	39581330	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.200000	0.17257	0.004000	0.14682	0.561000	0.74099	AAG		0.562	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		9	110	1	0	7.48243e-07	1	8.70085e-07	9	110				
ITGB6	3694	broad.mit.edu	37	2	160998528	160998528	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160998528C>T	ENST00000283249.2	-	8	1309	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.G316R|ITGB6_ENST00000409872.1_Missense_Mutation_p.G358R|ITGB6_ENST00000409967.2_Missense_Mutation_p.G358R	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	358	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGAATGTTTCCGGAGTCCTTC	0.363																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1072-1074)Gga>Aga		integrin, beta 6							79.0	71.0	74.0					2																	160998528		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160998528C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1072G>A	2.37:g.160998528C>T	ENSP00000283249:p.Gly358Arg					ITGB6_ENST00000409872.1_Missense_Mutation_p.G358R|ITGB6_ENST00000428609.2_Missense_Mutation_p.G316R|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.G358R	p.G358R			P18564	ITB6_HUMAN			8	1309	-			358			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1072G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543354	0.27563	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	5.9	5.9	0.94986	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.209303	0.47852	D	0.000215	D	0.93635	0.7967	L	0.31420	0.93	0.45648	D	0.998579	B;B	0.30973	0.132;0.302	B;B	0.18871	0.023;0.023	D	0.91024	0.4859	10	0.49607	T	0.09	.	10.0381	0.42142	0.0:0.7899:0.1387:0.0715	.	316;358	E9PEE8;P18564	.;ITB6_HUMAN	R	358;316;358;358	ENSP00000283249:G358R;ENSP00000408024:G316R;ENSP00000386828:G358R;ENSP00000386367:G358R	ENSP00000283249:G358R	G	-	1	0	ITGB6	160706774	0.786000	0.28738	0.990000	0.47175	0.990000	0.78478	1.301000	0.33447	2.808000	0.96608	0.650000	0.86243	GGA		0.363	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		13	24	0	0	0	1	0	13	24				
NEURL4	84461	broad.mit.edu	37	17	7227169	7227169	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227169C>T	ENST00000399464.2	-	12	2240	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	NEURL4_ENST00000315614.7_Missense_Mutation_p.R742H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R720H	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	742	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R742H(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACTCGCTGCGACAGTTGTG	0.612																																						ENST00000399464.2																			2	Substitution - Missense(2)	p.R742H(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2224-2226)cGc>cAc		neuralized E3 ubiquitin protein ligase 4							78.0	89.0	85.0					17																	7227169		2090	4220	6310	SO:0001583	missense	84461							g.chr17:7227169C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2225G>A	17.37:g.7227169C>T	ENSP00000382390:p.Arg742His					NEURL4_ENST00000315614.7_Missense_Mutation_p.R742H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R720H	p.R742H	NM_032442.2	NP_115818.2					12	2240	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2225G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050943	0.75960	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.72835	1.34;-0.69	5.8	5.8	0.92144	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	N	0.16478	0.41	0.53688	D	0.999976	D;D	0.89917	1.0;0.999	D;D	0.65323	0.934;0.919	T	0.67106	-0.5754	10	0.18276	T	0.48	-19.0089	18.8323	0.92145	0.0:1.0:0.0:0.0	.	742;742	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	H	742	ENSP00000319826:R742H;ENSP00000382390:R742H	ENSP00000319826:R742H	R	-	2	0	NEURL4	7167893	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.585000	0.67497	2.755000	0.94549	0.655000	0.94253	CGC		0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		29	54	0	0	0	1	0	29	54				
ASTN1	460	broad.mit.edu	37	1	176853555	176853555	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176853555G>T	ENST00000367654.3	-	19	3381	c.3170C>A	c.(3169-3171)cCa>cAa	p.P1057Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1049Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1049Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1057	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCCCGATTGGTGGCTCTGA	0.532																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3169-3171)cCa>cAa		astrotactin 1							143.0	124.0	130.0					1																	176853555		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176853555G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3170C>A	1.37:g.176853555G>T	ENSP00000356626:p.Pro1057Gln					ASTN1_ENST00000424564.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1049Q	p.P1057Q			O14525	ASTN1_HUMAN			19	3183	-			1057			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3170C>A		.	.	.	.	.	.	.	.	.	.	G	26.9	4.780177	0.90195	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.60005	-0.7347	10	0.62326	D	0.03	-7.3323	19.635	0.95728	0.0:0.0:1.0:0.0	.	1049;1049	O14525-2;B1AJS1	.;.	Q	1049;1049;1057;1049;1049	ENSP00000356629:P1049Q;ENSP00000354536:P1049Q;ENSP00000356626:P1057Q;ENSP00000395041:P1049Q	ENSP00000354536:P1049Q	P	-	2	0	ASTN1	175120178	1.000000	0.71417	0.962000	0.40283	0.940000	0.58332	7.303000	0.78871	2.733000	0.93635	0.655000	0.94253	CCA		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		13	76	1	0	0.0135373	1	0.0140872	13	76				
GTF2E1	2960	broad.mit.edu	37	3	120489701	120489701	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120489701G>A	ENST00000283875.5	+	3	668	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	192					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R192L(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCATTGCTTCGGGAGACAGAG	0.463																																						ENST00000283875.5																			2	Substitution - Missense(2)	p.R192L(2)	lung(2)	NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(574-576)cGg>cAg		general transcription factor IIE, polypeptide 1, alpha 56kDa							260.0	253.0	256.0					3																	120489701		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120489701G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.575G>A	3.37:g.120489701G>A	ENSP00000283875:p.Arg192Gln						p.R192Q	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	3	668	+			192					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.575G>A	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152438	0.78001	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	T	0.47177	0.85	5.81	5.81	0.92471	.	0.052824	0.85682	D	0.000000	T	0.46092	0.1375	M	0.72353	2.195	0.58432	D	0.999999	P	0.47604	0.898	B	0.39904	0.313	T	0.45264	-0.9273	10	0.32370	T	0.25	-35.2219	12.3896	0.55350	0.0764:0.0:0.9236:0.0	.	192	P29083	T2EA_HUMAN	Q	25;192	ENSP00000283875:R192Q	ENSP00000283875:R192Q	R	+	2	0	GTF2E1	121972391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	CGG		0.463	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		123	187	0	0	0	1	0	123	187				
PPEF1	5475	broad.mit.edu	37	X	18768031	18768031	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18768031G>A	ENST00000361511.4	+	7	851	c.357G>A	c.(355-357)acG>acA	p.T119T	PPEF1_ENST00000359763.6_Intron|PPEF1_ENST00000349874.5_Silent_p.T119T|PPEF1_ENST00000544635.1_Silent_p.T54T|PPEF1_ENST00000543630.1_Silent_p.T119T|PPEF1_ENST00000471570.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	119					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCACTTGTACGGATATTGATT	0.433																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(355-357)acG>acA		protein phosphatase, EF-hand calcium binding domain 1							184.0	159.0	168.0					X																	18768031		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18768031G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.357G>A	X.37:g.18768031G>A						PPEF1_ENST00000359763.6_Intron|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Silent_p.T119T|PPEF1_ENST00000543630.1_Silent_p.T119T|PPEF1_ENST00000544635.1_Silent_p.T54T	p.T119T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			7	851	+	Hepatocellular(33;0.183)		119					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.357G>A	CCDS14188.1																																																																																				0.433	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		66	115	0	0	0	1	0	66	115				
PADI2	11240	broad.mit.edu	37	1	17413088	17413088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17413088G>A	ENST00000375486.4	-	7	825	c.762C>T	c.(760-762)ggC>ggT	p.G254G	PADI2_ENST00000444885.2_Missense_Mutation_p.A173V|PADI2_ENST00000375481.1_Silent_p.G254G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	254					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAAACAGAGGCCTTCCACGA	0.622																																						ENST00000444885.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(517-519)gCc>gTc		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						65.0	67.0	66.0					1																	17413088		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17413088G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.762C>T	1.37:g.17413088G>A						PADI2_ENST00000375481.1_Silent_p.G254G|PADI2_ENST00000375486.4_Silent_p.G254G	p.A173V			Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	5	599	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	0					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.518C>T	CCDS177.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093153	0.36952	.	.	ENSG00000117115	ENST00000444885	T	0.05580	3.42	5.08	3.02	0.34903	.	.	.	.	.	T	0.03739	0.0106	.	.	.	0.25005	N	0.991445	B	0.25521	0.128	B	0.22386	0.039	T	0.39563	-0.9608	8	0.15066	T	0.55	-35.6665	9.0904	0.36607	0.0868:0.2202:0.6929:0.0	.	173	B4DIU3	.	V	173	ENSP00000405894:A173V	ENSP00000405894:A173V	A	-	2	0	PADI2	17285675	0.173000	0.23056	1.000000	0.80357	0.450000	0.32258	-0.577000	0.05847	2.359000	0.80004	0.460000	0.39030	GCC		0.622	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			30	41	0	0	0	1	0	30	41				
PCDHGA3	56112	broad.mit.edu	37	5	140723715	140723715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140723715C>A	ENST00000253812.6	+	1	115	c.115C>A	c.(115-117)Cta>Ata	p.L39I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	39	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAGGAGCTAGATAAAGG	0.622											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(115-117)Cta>Ata									105.0	119.0	114.0					5																	140723715		2129	4271	6400	SO:0001583	missense	0							g.chr5:140723715C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.115C>A	5.37:g.140723715C>A	ENSP00000253812:p.Leu39Ile		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L39I	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	115	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.115C>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	9.659	1.143585	0.21205	.	.	ENSG00000254245	ENST00000253812	T	0.28454	1.61	5.54	4.55	0.56014	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.252390	0.18718	U	0.133111	T	0.30665	0.0772	M	0.65975	2.015	0.21915	N	0.999471	B;B	0.16166	0.016;0.01	B;B	0.23852	0.033;0.049	T	0.15009	-1.0452	10	0.51188	T	0.08	.	6.5377	0.22363	0.275:0.6336:0.0:0.0915	.	39;39	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	39	ENSP00000253812:L39I	ENSP00000253812:L39I	L	+	1	2	PCDHGA3	140703899	0.013000	0.17824	1.000000	0.80357	0.235000	0.25334	-0.254000	0.08781	2.754000	0.94517	0.655000	0.94253	CTA		0.622	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		74	107	1	0	2.94884e-30	1	3.95093e-30	74	107				
HIP1	3092	broad.mit.edu	37	7	75184725	75184725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75184725G>A	ENST00000336926.6	-	19	1984	c.1958C>T	c.(1957-1959)tCt>tTt	p.S653F	HIP1_ENST00000434438.2_Missense_Mutation_p.S653F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	653					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTACCTGCAGACCCAGCGCA	0.557			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1957-1959)tCt>tTt		huntingtin interacting protein 1							83.0	67.0	72.0					7																	75184725		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75184725G>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1958C>T	7.37:g.75184725G>A	ENSP00000336747:p.Ser653Phe					HIP1_ENST00000434438.2_Missense_Mutation_p.S653F	p.S653F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			19	1984	-			653					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1958C>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669038	0.88348	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.20200	2.43;2.09	5.06	5.06	0.68205	.	0.348655	0.34435	N	0.003975	T	0.31327	0.0793	M	0.80422	2.495	0.53688	D	0.999978	P;B	0.45715	0.865;0.274	B;B	0.40228	0.323;0.14	T	0.37314	-0.9711	10	0.87932	D	0	-7.0885	17.1815	0.86856	0.0:0.0:1.0:0.0	.	653;653	E7ES17;O00291	.;HIP1_HUMAN	F	653	ENSP00000336747:S653F;ENSP00000410300:S653F	ENSP00000336747:S653F	S	-	2	0	HIP1	75022661	1.000000	0.71417	0.971000	0.41717	0.979000	0.70002	8.614000	0.90917	2.619000	0.88677	0.655000	0.94253	TCT		0.557	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		12	51	0	0	0	1	0	12	51				
C12orf76	400073	broad.mit.edu	37	12	110488836	110488836	+	Intron	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110488836A>G	ENST00000309050.5	-	4	664				C12orf76_ENST00000547573.1_5'Flank|C12orf76_ENST00000551185.2_5'Flank|C12orf76_ENST00000549724.1_5'Flank|C12orf76_ENST00000546651.2_5'Flank|C12orf76_ENST00000548191.1_Missense_Mutation_p.V92A|C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000546627.1_5'Flank	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76											endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						CATGTTAAAGACACTGTGCAC	0.468																																						ENST00000548191.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(274-276)gTc>gCc		chromosome 12 open reading frame 76																																				SO:0001627	intron_variant	400073							g.chr12:110488836A>G	BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315	ENST00000309050.5:c.299+6157T>C	12.37:g.110488836A>G						C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000309050.5_Intron	p.V92A			Q8N812	CL076_HUMAN			2	532	-			0						Missense_Mutation	SNP	ENST00000309050.5	37	c.275T>C	CCDS9141.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064729	0.55432	.	.	ENSG00000174456	ENST00000548191	T	0.05996	3.36	2.26	1.03	0.20045	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.09310	N	1	P	0.49783	0.928	P	0.51895	0.683	T	0.19582	-1.0301	8	0.87932	D	0	.	4.1649	0.10301	0.8115:0.0:0.1885:0.0	.	92	F8VV97	.	A	92	ENSP00000449939:V92A	ENSP00000449939:V92A	V	-	2	0	C12orf76	108973219	0.610000	0.26983	0.004000	0.12327	0.428000	0.31595	1.955000	0.40372	0.118000	0.18165	0.260000	0.18958	GTC		0.468	C12orf76-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403439.2	NM_207435		5	7	0	0	0	1	0	5	7				
SLC16A12	387700	broad.mit.edu	37	10	91198779	91198779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91198779G>A	ENST00000341233.4	-	6	910	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	SLC16A12_ENST00000371790.4_Missense_Mutation_p.R204W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	174						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						AAGGCTCCCCGCCAGGAAAAC	0.498																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(520-522)Cgg>Tgg		solute carrier family 16, member 12							89.0	87.0	88.0					10																	91198779		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198779G>A		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.520C>T	10.37:g.91198779G>A	ENSP00000343022:p.Arg174Trp					SLC16A12_ENST00000371790.4_Missense_Mutation_p.R204W	p.R174W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			6	910	-			174					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.520C>T		.	.	.	.	.	.	.	.	.	.	G	18.72	3.684570	0.68157	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.48201	0.82;0.82	5.86	0.548	0.17208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046833	0.85682	D	0.000000	T	0.75953	0.3920	H	0.95260	3.645	0.58432	D	0.999996	D	0.89917	1.0	D	0.75020	0.985	D	0.83760	0.0214	10	0.87932	D	0	.	16.3417	0.83083	0.0:0.0:0.4004:0.5996	.	174	Q6ZSM3	MOT12_HUMAN	W	174;204	ENSP00000343022:R174W;ENSP00000360855:R204W	ENSP00000343022:R174W	R	-	1	2	SLC16A12	91188759	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	1.628000	0.37060	-0.076000	0.12775	-0.188000	0.12872	CGG		0.498	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		4	68	0	0	0	1	0	4	68				
MYT1L	23040	broad.mit.edu	37	2	1891356	1891356	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1891356T>A	ENST00000399161.2	-	17	3293	c.2546A>T	c.(2545-2547)gAg>gTg	p.E849V	MYT1L_ENST00000428368.2_Missense_Mutation_p.E847V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	849					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTAGAGCCTCCTGGAATGG	0.527																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2545-2547)gAg>gTg		myelin transcription factor 1-like							166.0	163.0	164.0					2																	1891356		1949	4132	6081	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1891356T>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2546A>T	2.37:g.1891356T>A	ENSP00000382114:p.Glu849Val					MYT1L_ENST00000428368.2_Missense_Mutation_p.E847V	p.E849V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	17	3293	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	849					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2546A>T		.	.	.	.	.	.	.	.	.	.	T	23.1	4.371859	0.82573	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.52526	0.66;0.66	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.098316	0.64402	D	0.000001	T	0.50188	0.1601	L	0.55213	1.73	0.58432	D	0.999998	P;P	0.40970	0.734;0.634	B;B	0.42916	0.402;0.219	T	0.55166	-0.8183	10	0.72032	D	0.01	-26.1828	15.698	0.77515	0.0:0.0:0.0:1.0	.	849;847	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	849;795;847	ENSP00000382114:E849V;ENSP00000396103:E847V	ENSP00000295067:E795V	E	-	2	0	MYT1L	1870363	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.633000	0.83260	2.109000	0.64355	0.528000	0.53228	GAG		0.527	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		30	81	0	0	0	1	0	30	81				
GANC	2595	broad.mit.edu	37	15	42630635	42630635	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42630635T>A	ENST00000318010.8	+	16	2030	c.1790T>A	c.(1789-1791)aTt>aAt	p.I597N		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	597					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AACTTGAAAATTTCTATCCCA	0.423																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1789-1791)aTt>aAt		glucosidase, alpha; neutral C							141.0	124.0	130.0					15																	42630635		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42630635T>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1790T>A	15.37:g.42630635T>A	ENSP00000326227:p.Ile597Asn						p.I597N	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	16	2030	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	597					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1790T>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.788330	0.90367	.	.	ENSG00000214013	ENST00000318010	D	0.93247	-3.19	5.57	5.57	0.84162	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	L	0.52905	1.665	0.80722	D	1	B	0.28178	0.202	B	0.29077	0.098	D	0.90384	0.4390	10	0.66056	D	0.02	-15.62	15.7338	0.77827	0.0:0.0:0.0:1.0	.	597	Q8TET4	GANC_HUMAN	N	597	ENSP00000326227:I597N	ENSP00000326227:I597N	I	+	2	0	GANC	40417927	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.040000	0.89188	2.107000	0.64212	0.533000	0.62120	ATT		0.423	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		22	31	0	0	0	1	0	22	31				
BHLHB9	80823	broad.mit.edu	37	X	102005007	102005007	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102005007A>G	ENST00000372735.1	+	4	1669	c.1084A>G	c.(1084-1086)Aac>Gac	p.N362D	BHLHB9_ENST00000457056.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000448867.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000447531.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N362D			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	362					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTTTATTAACGAAGTAGG	0.388																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1084-1086)Aac>Gac		basic helix-loop-helix domain containing, class B, 9							69.0	59.0	63.0					X																	102005007		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005007A>G	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1084A>G	X.37:g.102005007A>G	ENSP00000361820:p.Asn362Asp					BHLHB9_ENST00000448867.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000447531.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N362D|BHLHB9_ENST00000457056.1_Missense_Mutation_p.N362D	p.N362D			Q6PI77	BHLH9_HUMAN			4	1669	+			362					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1084A>G	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557849	0.45590	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000155	T	0.36690	0.0976	N	0.22421	0.69	0.26810	N	0.969016	D	0.89917	1.0	D	0.91635	0.999	T	0.10086	-1.0645	9	.	.	.	-13.5567	9.146	0.36933	1.0:0.0:0.0:0.0	.	362	Q6PI77	BHLH9_HUMAN	D	362	ENSP00000403226:N362D;ENSP00000354675:N362D;ENSP00000405893:N362D;ENSP00000391722:N362D;ENSP00000361820:N362D	.	N	+	1	0	BHLHB9	101891663	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.448000	0.52943	1.981000	0.57761	0.441000	0.28932	AAC		0.388	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		6	62	0	0	0	1	0	6	62				
RBPJL	11317	broad.mit.edu	37	20	43944893	43944893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43944893G>A	ENST00000343694.3	+	10	1159	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	RBPJL_ENST00000372741.3_Missense_Mutation_p.G363S|RBPJL_ENST00000372743.1_Missense_Mutation_p.G363S|RBPJL_ENST00000464504.1_Intron	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	363					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GACCATCATCGGCACCGAGTC	0.632																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1087-1089)Ggc>Agc		recombination signal binding protein for immunoglobulin kappa J region-like							94.0	87.0	89.0					20																	43944893		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43944893G>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1087G>A	20.37:g.43944893G>A	ENSP00000341243:p.Gly363Ser					RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372743.1_Missense_Mutation_p.G363S|RBPJL_ENST00000372741.3_Missense_Mutation_p.G363S	p.G363S	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			10	1159	+		Myeloproliferative disorder(115;0.0122)	363					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.1087G>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	7.707	0.694283	0.15039	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.36157	1.27;1.27;1.27	4.72	4.72	0.59763	Beta-trefoil (1);	0.000000	0.64402	D	0.000002	T	0.13927	0.0337	N	0.12471	0.22	0.50039	D	0.999847	P;P	0.43519	0.809;0.809	B;B	0.34873	0.191;0.119	T	0.21518	-1.0243	10	0.02654	T	1	-33.0587	8.7831	0.34802	0.1709:0.0:0.8291:0.0	.	363;363	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	S	363	ENSP00000361828:G363S;ENSP00000361826:G363S;ENSP00000341243:G363S	ENSP00000341243:G363S	G	+	1	0	RBPJL	43378307	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.755000	0.55197	2.438000	0.82558	0.655000	0.94253	GGC		0.632	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		24	50	0	0	0	1	0	24	50				
TK2	7084	broad.mit.edu	37	16	66575796	66575796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66575796C>T	ENST00000451102.2	-	3	567	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	TK2_ENST00000527284.1_Missense_Mutation_p.A42T|TK2_ENST00000417693.3_Missense_Mutation_p.A73T|TK2_ENST00000564917.1_Missense_Mutation_p.A73T|TK2_ENST00000527800.1_5'UTR|TK2_ENST00000545043.2_Intron|TK2_ENST00000299697.7_Missense_Mutation_p.A115T|TK2_ENST00000544898.1_Missense_Mutation_p.A24T|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000525974.1_5'UTR			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACGTCTGTCGCGTTGGAGAAG	0.473																																						ENST00000299697.7																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(343-345)Gcg>Acg		thymidine kinase 2, mitochondrial							130.0	103.0	112.0					16																	66575796		2201	4300	6501	SO:0001583	missense	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66575796C>T		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.217G>A	16.37:g.66575796C>T	ENSP00000414334:p.Ala73Thr					TK2_ENST00000527284.1_Missense_Mutation_p.A42T|TK2_ENST00000527800.1_5'UTR|TK2_ENST00000564917.1_Missense_Mutation_p.A73T|TK2_ENST00000417693.3_Missense_Mutation_p.A73T|TK2_ENST00000545043.2_Intron|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000544898.1_Missense_Mutation_p.A24T|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000451102.2_Missense_Mutation_p.A73T	p.A115T	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	3	567	-		Ovarian(137;0.0563)	73					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	c.343G>A	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	C	0.175	-1.068033	0.01934	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000451102;ENST00000527284;ENST00000544898	D;D;D;D;D	0.93133	-3.1;-3.17;-3.1;-3.1;-3.1	6.16	2.7	0.31948	.	0.338415	0.33732	N	0.004613	T	0.79551	0.4465	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.15719	0.002;0.003;0.0;0.014;0.006	B;B;B;B;B	0.10450	0.001;0.003;0.0;0.003;0.005	T	0.64753	-0.6333	10	0.13853	T	0.58	-3.3836	4.0942	0.09983	0.1502:0.1652:0.0:0.6847	.	73;24;37;115;42	O00142;F5GYK4;A4IF54;E5KNQ5;O00142-2	KITM_HUMAN;.;.;.;.	T	115;73;73;42;24	ENSP00000299697:A115T;ENSP00000407469:A73T;ENSP00000414334:A73T;ENSP00000435312:A42T;ENSP00000440898:A24T	ENSP00000299697:A115T	A	-	1	0	TK2	65133297	0.977000	0.34250	0.006000	0.13384	0.011000	0.07611	2.058000	0.41374	0.194000	0.20326	-0.312000	0.09012	GCG		0.473	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			27	46	0	0	0	1	0	27	46				
SLFN12L	100506736	broad.mit.edu	37	17	33806727	33806727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806727C>T	ENST00000260908.7	-	2	619	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	SLFN12L_ENST00000361112.4_Missense_Mutation_p.E197K|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.E199K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	168						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(502-504)Gaa>Aaa		schlafen family member 12-like							46.0	36.0	39.0					17																	33806727		692	1591	2283	SO:0001583	missense	100506736					integral to membrane	ATP binding	g.chr17:33806727C>T	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.502G>A	17.37:g.33806727C>T	ENSP00000437635:p.Glu168Lys					SLFN12L_ENST00000449046.1_Missense_Mutation_p.E199K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E197K	p.E168K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			2	619	-			200					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.502G>A	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.759554	0.00657	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.03386	3.96;4.06;3.95	2.62	-5.23	0.02798	.	.	.	.	.	T	0.01523	0.0049	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44997	-0.9291	9	0.02654	T	1	.	6.4413	0.21851	0.0:0.3616:0.4454:0.193	.	197	Q6IEE8-2	.	K	168;197;199	ENSP00000437635:E168K;ENSP00000354412:E197K;ENSP00000389348:E199K	ENSP00000437635:E168K	E	-	1	0	SLFN12L	30830840	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-4.450000	0.00232	-2.014000	0.00948	-0.474000	0.04947	GAA		0.453	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		18	12	0	0	0	1	0	18	12				
HNF4G	3174	broad.mit.edu	37	8	76471094	76471094	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76471094C>T	ENST00000354370.1	+	9	1074	c.804C>T	c.(802-804)atC>atT	p.I268I	HNF4G_ENST00000396423.2_Silent_p.I305I			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	268					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTGCAGATCGGTTTGGAGG	0.468																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(913-915)atC>atT		hepatocyte nuclear factor 4, gamma							98.0	89.0	92.0					8																	76471094		2203	4300	6503	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76471094C>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.804C>T	8.37:g.76471094C>T						HNF4G_ENST00000354370.1_Silent_p.I268I	p.I305I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		8	1039	+	Breast(64;0.0448)		268					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.915C>T																																																																																					0.468	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		5	58	0	0	0	1	0	5	58				
FMO3	2328	broad.mit.edu	37	1	171086349	171086349	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086349A>G	ENST00000367755.4	+	9	1477	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	FMO3_ENST00000542847.1_Missense_Mutation_p.K436E|FMO3_ENST00000392085.2_Missense_Mutation_p.K456E|FMO3_ENST00000538429.1_Missense_Mutation_p.K393E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CACAGATCCCAAATTGGCCAT	0.498																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1366-1368)Aaa>Gaa		flavin containing monooxygenase 3							99.0	91.0	94.0					1																	171086349		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086349A>G	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1366A>G	1.37:g.171086349A>G	ENSP00000356729:p.Lys456Glu					FMO3_ENST00000542847.1_Missense_Mutation_p.K436E|FMO3_ENST00000538429.1_Missense_Mutation_p.K393E|FMO3_ENST00000392085.2_Missense_Mutation_p.K456E	p.K456E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1477	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		456					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1366A>G	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.116983	0.37339	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.34	2.99	0.34606	.	0.241522	0.41823	D	0.000810	T	0.27384	0.0672	M	0.74647	2.275	0.09310	N	0.999998	B;B;B	0.34399	0.452;0.066;0.013	B;B;B	0.33454	0.164;0.033;0.056	T	0.16541	-1.0399	10	0.24483	T	0.36	-1.9067	7.3507	0.26689	0.6558:0.2712:0.073:0.0	.	393;436;456	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	E	456;456;436;393	ENSP00000356729:K456E;ENSP00000375935:K456E;ENSP00000444073:K436E;ENSP00000439500:K393E	ENSP00000356729:K456E	K	+	1	0	FMO3	169352973	0.000000	0.05858	0.474000	0.27266	0.948000	0.59901	-0.273000	0.08548	0.320000	0.23234	0.533000	0.62120	AAA		0.498	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		9	52	0	0	0	1	0	9	52				
E4F1	1877	broad.mit.edu	37	16	2284592	2284592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2284592G>A	ENST00000301727.4	+	11	1650	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000564139.1_Silent_p.Q534Q	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	534	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						AGAACGCACAGCAGGTGCACT	0.647																																						ENST00000301727.4																			0				ovary(1)	1						c.(1600-1602)caG>caA		E4F transcription factor 1							23.0	20.0	21.0					16																	2284592		2185	4292	6477	SO:0001819	synonymous_variant	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284592G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1602G>A	16.37:g.2284592G>A						E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Silent_p.Q534Q	p.Q534Q	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			11	1650	+			534			Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.		A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.1602G>A	CCDS32370.1																																																																																				0.647	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		3	3	0	0	0	1	0	3	3				
FAM213B	127281	broad.mit.edu	37	1	2519811	2519811	+	Intron	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2519811G>A	ENST00000378425.5	+	4	396				FAM213B_ENST00000444521.2_Silent_p.A119A|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000419916.2_Intron|FAM213B_ENST00000378424.4_Silent_p.A149A|FAM213B_ENST00000484099.1_Intron			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)										TTGGCCAAGCGACCTGGTGTC	0.637																																						ENST00000378424.4																			0											c.(445-447)gcG>gcA		family with sequence similarity 213, member B							67.0	68.0	68.0					1																	2519811		2203	4300	6503	SO:0001627	intron_variant	127281				prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr1:2519811G>A	AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"""prostamide/prostaglandin F synthase"""		"""chromosome 1 open reading frame 93"""	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.321-18G>A	1.37:g.2519811G>A						FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000378425.5_Intron|FAM213B_ENST00000444521.2_Silent_p.A119A|FAM213B_ENST00000484099.1_Intron|FAM213B_ENST00000419916.2_Intron	p.A149A			Q8TBF2	PGFS_HUMAN			4	463	+			106					A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Silent	SNP	ENST00000378425.5	37	c.447G>A																																																																																					0.637	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152371		27	32	0	0	0	1	0	27	32				
CASQ1	844	broad.mit.edu	37	1	160165307	160165307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160165307G>A	ENST00000368078.3	+	5	830	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CASQ1_ENST00000368079.3_Missense_Mutation_p.A206T|CASQ1_ENST00000467691.1_5'Flank			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	212					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCTTCTTCGCCACCTTCGA	0.552																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(616-618)Gcc>Acc		calsequestrin 1 (fast-twitch, skeletal muscle)							147.0	139.0	141.0					1																	160165307		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160165307G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.634G>A	1.37:g.160165307G>A	ENSP00000357057:p.Ala212Thr					CASQ1_ENST00000368078.3_Missense_Mutation_p.A212T	p.A206T	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	891	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		212					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.616G>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816695	0.90790	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.79247	-1.25;-1.25	4.57	4.57	0.56435	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87013	0.2124	10	0.59425	D	0.04	.	16.6459	0.85177	0.0:0.0:1.0:0.0	.	212	P31415	CASQ1_HUMAN	T	206;212;127	ENSP00000357058:A206T;ENSP00000357057:A212T	ENSP00000357057:A212T	A	+	1	0	CASQ1	158431931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.076000	0.76806	2.533000	0.85409	0.557000	0.71058	GCC		0.552	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		26	32	0	0	0	1	0	26	32				
ATXN2L	11273	broad.mit.edu	37	16	28846456	28846456	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28846456C>A	ENST00000336783.4	+	19	2678	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.S837S|ATXN2L_ENST00000564304.1_Silent_p.S843S|ATXN2L_ENST00000395547.2_Silent_p.S837S|ATXN2L_ENST00000382686.4_Silent_p.S837S|ATXN2L_ENST00000325215.6_Silent_p.S837S|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Silent_p.S837S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	837					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGTGTCATCCTCTACCCCTC	0.642																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2509-2511)tcC>tcA		ataxin 2-like							156.0	131.0	139.0					16																	28846456		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28846456C>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2511C>A	16.37:g.28846456C>A						ATXN2L_ENST00000325215.6_Silent_p.S837S|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Silent_p.S843S|ATXN2L_ENST00000340394.8_Silent_p.S837S|ATXN2L_ENST00000570200.1_Silent_p.S837S|ATXN2L_ENST00000382686.4_Silent_p.S837S|ATXN2L_ENST00000395547.2_Silent_p.S837S|RP11-24N18.1_ENST00000563565.1_RNA	p.S837S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			19	2678	+			837					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.2511C>A	CCDS10641.1																																																																																				0.642	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		33	79	1	0	6.84511e-11	1	8.47551e-11	33	79				
PHF13	148479	broad.mit.edu	37	1	6680296	6680297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6680296_6680297insA	ENST00000377648.4	+	3	957_958	c.575_576insA	c.(574-579)ataaaafs	p.IK192fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	192					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTCAAAGAAATAAAAACTGAAG	0.554																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(574-576)aaafs		PHD finger protein 13																																				SO:0001589	frameshift_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680296_6680297insA	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.580dupA	1.37:g.6680301_6680301dupA	ENSP00000366876:p.Ile192fs					PHF13_ENST00000495385.1_Intron	p.K192fs	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	957_958	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	192					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Frame_Shift_Ins	INS	ENST00000377648.4	37	c.575_576insA	CCDS85.1																																																																																				0.554	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		11	23						11	23	---	---	---	---
ZC3H12A	80149	broad.mit.edu	37	1	37941142	37941143	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37941142_37941143insA	ENST00000373087.6	+	2	161_162	c.45_46insA	c.(46-48)accfs	p.T16fs	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGCCAGCCCCACCATGAGTCT	0.634																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(43-48)ccccatfs		zinc finger CCCH-type containing 12A																																				SO:0001589	frameshift_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37941142_37941143insA		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.46dupA	1.37:g.37941143_37941143dupA	ENSP00000362179:p.Thr16fs						p.H16fs	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			2	161_162	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	16						Frame_Shift_Ins	INS	ENST00000373087.6	37	c.45_46insA	CCDS417.1																																																																																				0.634	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		37	67						37	67	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)ccafs	p.P345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1033-1035)cgcfs		leucine rich repeat containing 41																																				SO:0001589	frameshift_variant	10489							g.chr1:46751494_46751495insG	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1035dupC	1.37:g.46751500_46751500dupG	ENSP00000343298:p.Pro345fs					LRRC41_ENST00000472710.1_5'UTR	p.R345fs	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1319_1320	-	Acute lymphoblastic leukemia(166;0.155)		345					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Ins	INS	ENST00000343304.6	37	c.1034_1035insC	CCDS533.1																																																																																				0.619	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		18	49						18	49	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	62941476	62941477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62941476_62941477insA	ENST00000340370.5	-	45	5786_5787	c.5769_5770insT	c.(5767-5772)catgggfs	p.G1924fs	DOCK7_ENST00000251157.5_Frame_Shift_Ins_p.G1944fs|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1955	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGAAGTTCCCCATGGGCACGGC	0.391																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(5827-5832)cagggafs		dedicator of cytokinesis 7																																				SO:0001589	frameshift_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62941476_62941477insA		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5770dupT	1.37:g.62941477_62941477dupA	ENSP00000340742:p.Gly1924fs					DOCK7_ENST00000340370.5_Frame_Shift_Ins_p.Q1923fs|DOCK7_ENST00000489185.1_5'UTR	p.Q1943fs	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			45	5862_5863	-			1954			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Frame_Shift_Ins	INS	ENST00000340370.5	37	c.5829_5830insT	CCDS30734.1																																																																																				0.391	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		18	150						18	150	---	---	---	---
RAVER2	55225	broad.mit.edu	37	1	65296646	65296647	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65296646_65296647insA	ENST00000294428.3	+	12	2132_2133	c.2054_2055insA	c.(2053-2058)ttaaaafs	p.LK685fs	RAVER2_ENST00000371072.4_Frame_Shift_Ins_p.LK672fs|RAVER2_ENST00000430964.2_Frame_Shift_Ins_p.LK224fs			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	685						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAACTTACTTAAAAAAGAAGC	0.446																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(2053-2055)taafs		ribonucleoprotein, PTB-binding 2																																				SO:0001589	frameshift_variant	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65296646_65296647insA	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.2060dupA	1.37:g.65296652_65296652dupA	ENSP00000294428:p.Leu685fs					RAVER2_ENST00000430964.2_Frame_Shift_Ins_p.*224fs|RAVER2_ENST00000371072.4_Frame_Shift_Ins_p.*672fs	p.*685fs			Q9HCJ3	RAVR2_HUMAN			12	2132_2133	+			685					Q6P141|Q9NPV7	Frame_Shift_Ins	INS	ENST00000294428.3	37	c.2054_2055insA																																																																																					0.446	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		9	142						9	142	---	---	---	---
TYW3	127253	broad.mit.edu	37	1	75229674	75229675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75229674_75229675insA	ENST00000370867.3	+	6	746_747	c.657_658insA	c.(658-660)aaafs	p.K220fs	TYW3_ENST00000457880.2_Frame_Shift_Ins_p.K187fs|TYW3_ENST00000479111.1_Frame_Shift_Ins_p.K100fs|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000421739.2_Frame_Shift_Ins_p.K136fs	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	220					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATATTCATAAGAAAAAAAGAAA	0.342																																						ENST00000370867.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						c.(655-660)aaaaaafs		tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	127253				tRNA processing		methyltransferase activity	g.chr1:75229674_75229675insA	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.664dupA	1.37:g.75229681_75229681dupA	ENSP00000359904:p.Lys220fs					TYW3_ENST00000457880.2_Frame_Shift_Ins_p.KK186fs|TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000421739.2_Frame_Shift_Ins_p.KK135fs	p.KK219fs	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN			6	746_747	+			219					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Frame_Shift_Ins	INS	ENST00000370867.3	37	c.657_658insA	CCDS666.1																																																																																				0.342	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		30	60						30	60	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76877904	76877905	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76877904_76877905insT	ENST00000328299.3	+	3	573_574	c.425_426insT	c.(424-429)tattttfs	p.YF142fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	142					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AACCCTGATTATTTTTTCAAGG	0.411																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(424-426)tttfs		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3																																				SO:0001589	frameshift_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877904_76877905insT		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.431dupT	1.37:g.76877910_76877910dupT	ENSP00000329214:p.Tyr142fs					ST6GALNAC3_ENST00000464140.1_3'UTR	p.F142fs	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			3	573_574	+			142					Q6PCE0|Q6UX29|Q8N259	Frame_Shift_Ins	INS	ENST00000328299.3	37	c.425_426insT	CCDS672.1																																																																																				0.411	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		32	119						32	119	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	78958518	78958519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958518_78958519insT	ENST00000370757.3	+	2	327_328	c.90_91insT	c.(91-93)tttfs	p.F31fs	PTGFR_ENST00000370756.3_Frame_Shift_Ins_p.F31fs|PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.F31fs	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	31					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGCTTTCCGTATTTTTTTCAGT	0.45																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(88-93)gtttttfs		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)																																			SO:0001589	frameshift_variant	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958518_78958519insT	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.97dupT	1.37:g.78958525_78958525dupT	ENSP00000359793:p.Phe31fs					PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.VF30fs|PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.VF30fs	p.VF30fs	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	327_328	+			30					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Frame_Shift_Ins	INS	ENST00000370757.3	37	c.90_91insT	CCDS686.1																																																																																				0.450	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		27	96						27	96	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79116271	79116272	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79116271_79116272insA	ENST00000370747.4	+	2	476_477	c.391_392insA	c.(391-393)gaafs	p.E131fs	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	131					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGACAATGGAAAATCTTGGA	0.327																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(391-393)aaafs		interferon-induced protein 44																																				SO:0001589	frameshift_variant	10561				response to virus	cytoplasm		g.chr1:79116271_79116272insA	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.395dupA	1.37:g.79116275_79116275dupA	ENSP00000359783:p.Glu131fs					IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	p.K131fs	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			2	476_477	+			131					B7ZAG3|D3DQ80|Q14496	Frame_Shift_Ins	INS	ENST00000370747.4	37	c.391_392insA	CCDS688.1																																																																																				0.327	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		41	113						41	113	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-	rs200529227		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(1222-1224)tgfs		ecotropic viral integration site 5							76.0	82.0	80.0					1																	93159366		2202	4297	6499	SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93159366delT	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1222delA	1.37:g.93159366delT	ENSP00000359356:p.Met408fs					EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	9	1231	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	408			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	ENST00000370331.1	37	c.1222delA	CCDS30774.1																																																																																				0.318	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		40	126						40	126	---	---	---	---
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100889837delC	ENST00000336454.3	+	5	724	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370125.2_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(367-369)aafs		cell division cycle 14A							95.0	99.0	98.0					1																	100889837		2203	4300	6503	SO:0001589	frameshift_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100889837delC	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.369delC	1.37:g.100889837delC	ENSP00000336739:p.Asn123fs					CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000336454.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs	p.N123fs			Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	5	857	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	123			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Del	DEL	ENST00000336454.3	37	c.369delC	CCDS769.1																																																																																				0.403	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		7	142						7	142	---	---	---	---
C1orf162	128346	broad.mit.edu	37	1	112019956	112019957	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112019956_112019957insA	ENST00000343534.5	+	4	358_359	c.108_109insA	c.(109-111)aaa>Aaaa	p.K37fs	C1orf162_ENST00000369718.3_Splice_Site_p.K37fs|C1orf162_ENST00000464591.1_Intron	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	37						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCAAAACAGCAAAAAACATTT	0.431																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.e4-1		chromosome 1 open reading frame 162																																				SO:0001630	splice_region_variant	128346					integral to membrane		g.chr1:112019956_112019957insA	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.108-1->A	1.37:g.112019962_112019962dupA						C1orf162_ENST00000369718.3_Splice_Site_p.KK36_splice|C1orf162_ENST00000464591.1_Intron	p.KK36_splice	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	4	358_359	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	36					Q5QNZ1	Splice_Site	INS	ENST00000343534.5	37	c.107_splice	CCDS837.1																																																																																				0.431	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896	Frame_Shift_Ins	31	40						31	40	---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119618995	119618996	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119618995_119618996insT	ENST00000235521.4	-	2	351_352	c.325_326insA	c.(325-327)agcfs	p.S109fs	WARS2_ENST00000369426.5_Frame_Shift_Ins_p.S109fs|WARS2_ENST00000537870.1_Frame_Shift_Ins_p.S15fs	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	109					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAAAAGGATGCTTTTTTCCGGG	0.446																																						ENST00000369426.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(325-327)catfs		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)																																			SO:0001589	frameshift_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119618995_119618996insT	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.326dupA	1.37:g.119619001_119619001dupT	ENSP00000235521:p.Ser109fs					WARS2_ENST00000235521.4_Frame_Shift_Ins_p.H109fs|WARS2_ENST00000537870.1_Frame_Shift_Ins_p.H15fs	p.H109fs			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	2	328_329	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	109					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Frame_Shift_Ins	INS	ENST00000235521.4	37	c.325_326insA	CCDS900.1																																																																																				0.446	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		50	79						50	79	---	---	---	---
ADAM30	11085	broad.mit.edu	37	1	120438116	120438116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438116delT	ENST00000369400.1	-	1	1002	c.844delA	c.(844-846)agtfs	p.S282fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	282	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTAATACACTTTTTTTATAT	0.343																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(844-846)gtfs		ADAM metallopeptidase domain 30							38.0	42.0	40.0					1																	120438116		2198	4300	6498	SO:0001589	frameshift_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438116delT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.844delA	1.37:g.120438116delT	ENSP00000358407:p.Ser282fs						p.S282fs	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1002	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	282			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	ENST00000369400.1	37	c.844delA	CCDS907.1																																																																																				0.343	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		12	61						12	61	---	---	---	---
S100A7	6278	broad.mit.edu	37	1	153430402	153430403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153430402_153430403insT	ENST00000368723.3	-	3	295_296	c.185_186insA	c.(184-186)aagfs	p.K62fs	S100A7_ENST00000368722.1_Frame_Shift_Ins_p.K62fs	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTCTTGTCCTTTTTCTCAAA	0.416																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(184-186)agafs		S100 calcium binding protein A7																																				SO:0001589	frameshift_variant	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430402_153430403insT	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.186dupA	1.37:g.153430407_153430407dupT	ENSP00000357712:p.Lys62fs					S100A7_ENST00000368722.1_Frame_Shift_Ins_p.R62fs	p.R62fs	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	295_296	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		62			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Frame_Shift_Ins	INS	ENST00000368723.3	37	c.185_186insA	CCDS1039.1																																																																																				0.416	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		50	74						50	74	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155349914	155349915	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155349914_155349915insA	ENST00000368346.3	-	8	6750_6751	c.6111_6112insT	c.(6109-6114)tttgttfs	p.V2038fs	ASH1L_ENST00000392403.3_Intron			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2038					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCTGAAACAAAAAACACTA	0.322																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6109-6114)tttttcfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155349914_155349915insA	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6112dupT	1.37:g.155349920_155349920dupA	ENSP00000357330:p.Val2038fs					ASH1L_ENST00000392403.3_Intron	p.FF2037fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		8	6750_6751	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2037					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.6111_6112insT																																																																																					0.322	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		21	58						21	58	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	158984476	158984476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158984476delA	ENST00000295809.7	+	2	261	c.6delA	c.(4-6)ggafs	p.G2fs	IFI16_ENST00000359709.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000340979.6_Frame_Shift_Del_p.G2fs|IFI16_ENST00000368132.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000430894.2_Frame_Shift_Del_p.G6fs|IFI16_ENST00000448393.2_Frame_Shift_Del_p.G2fs|IFI16_ENST00000368131.4_Frame_Shift_Del_p.G2fs			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	2	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAGATGGGAAAAAAATACA	0.313																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(4-6)ggfs		interferon, gamma-inducible protein 16							53.0	56.0	55.0					1																	158984476		2203	4299	6502	SO:0001589	frameshift_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984476delA	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.6delA	1.37:g.158984476delA	ENSP00000295809:p.Gly2fs					IFI16_ENST00000368132.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000430894.2_Frame_Shift_Del_p.G6fs|IFI16_ENST00000368131.4_Frame_Shift_Del_p.G2fs|IFI16_ENST00000359709.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000448393.2_Frame_Shift_Del_p.G2fs|IFI16_ENST00000340979.6_Frame_Shift_Del_p.G2fs	p.G2fs			Q16666	IF16_HUMAN			2	261	+	all_hematologic(112;0.0429)		2			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Frame_Shift_Del	DEL	ENST00000295809.7	37	c.6delA																																																																																					0.313	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		11	64						11	64	---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161018566	161018567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161018566_161018567insT	ENST00000368013.3	-	12	2564_2565	c.2244_2245insA	c.(2242-2247)aaagaafs	p.E749fs	ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368015.1_Frame_Shift_Ins_p.E572fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	749	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTCAATTTCTTTTTCCTTCT	0.485																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2242-2247)aaaaatfs		Rho GTPase activating protein 30			,	0,4266		0,0,2133					,	-0.1	0.0			206	1,8251		0,1,4125	no	intron,frameshift	ARHGAP30	NM_181720.2,NM_001025598.1	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018566_161018567insT	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2245dupA	1.37:g.161018571_161018571dupT	ENSP00000356992:p.Glu749fs					ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Frame_Shift_Ins_p.N572fs	p.N749fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2564_2565	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		749			Glu-rich.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Frame_Shift_Ins	INS	ENST00000368013.3	37	c.2244_2245insA	CCDS30918.1																																																																																				0.485	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		81	195						81	195	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176708801	176708802	+	Frame_Shift_Ins	INS	-	-	T	rs201099713|rs75317943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176708801_176708802insT	ENST00000367662.3	+	13	5002_5003	c.3838_3839insT	c.(3838-3840)attfs	p.I1280fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1280					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCAATTTTTATTTTTTTGACA	0.446																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3838-3840)tttfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176708801_176708802insT	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3845dupT	1.37:g.176708808_176708808dupT	ENSP00000356634:p.Ile1280fs						p.F1280fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			13	5002_5003	+			1280					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.3838_3839insT	CCDS41438.1																																																																																				0.446	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			38	73						38	73	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185143874	185143875	+	Frame_Shift_Ins	INS	-	-	A	rs371953578		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185143874_185143875insA	ENST00000367500.4	+	5	760_761	c.595_596insA	c.(595-597)gaafs	p.E199fs	SWT1_ENST00000367501.3_Frame_Shift_Ins_p.E199fs	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	199										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGACAATTCTGAAAAATGTGTC	0.347																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(595-597)aaafs		SWT1 RNA endoribonuclease homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	54823							g.chr1:185143874_185143875insA	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.600dupA	1.37:g.185143879_185143879dupA	ENSP00000356470:p.Glu199fs					SWT1_ENST00000367501.3_Frame_Shift_Ins_p.K199fs	p.K199fs	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			5	760_761	+			199					Q8NEK9|Q9BZQ7|Q9NXQ0	Frame_Shift_Ins	INS	ENST00000367500.4	37	c.595_596insA	CCDS1367.1																																																																																				0.347	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		25	63						25	63	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186031667	186031667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186031667delA	ENST00000271588.4	+	48	7677	c.7448delA	c.(7447-7449)gaafs	p.E2483fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.E2483fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2483	Ig-like C2-type 23.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTGGGTGAAAATACATTG	0.378																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(7447-7449)gafs		hemicentin 1							93.0	88.0	90.0					1																	186031667		2203	4300	6503	SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186031667delA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7448delA	1.37:g.186031667delA	ENSP00000271588:p.Glu2483fs					HMCN1_ENST00000367492.2_Frame_Shift_Del_p.E2483fs	p.E2483fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			48	7677	+			2483			Ig-like C2-type 23.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	ENST00000271588.4	37	c.7448delA	CCDS30956.1																																																																																				0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	60						34	60	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186645975	186645976	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186645975_186645976insT	ENST00000367468.5	-	6	848_849	c.712_713insA	c.(712-714)atgfs	p.M238fs	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	238					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CTGATATTTCATTTTTCCATCC	0.312																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(712-714)gaafs		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)																																			SO:0001589	frameshift_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645975_186645976insT	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.713dupA	1.37:g.186645980_186645980dupT	ENSP00000356438:p.Met238fs					PTGS2_ENST00000490885.2_5'UTR	p.E238fs	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			6	848_849	-			238					A8K802|Q16876	Frame_Shift_Ins	INS	ENST00000367468.5	37	c.712_713insA	CCDS1371.1																																																																																				0.312	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		7	416						7	416	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202724582	202724583	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202724582_202724583insA	ENST00000367265.3	-	11	2521		c.e11-2		KDM5B_ENST00000456180.1_Splice_Site|KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGATACTCCTAAAAATAAGAA	0.347																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.e11-2		lysine (K)-specific demethylase 5B																																				SO:0001630	splice_region_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724582_202724583insA	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1357-2->T	1.37:g.202724587_202724587dupA						KDM5B_ENST00000456180.1_Splice_Site|KDM5B_ENST00000367264.2_Splice_Site		NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			11	2521	-								O95811|Q15752|Q9Y3Q5	Splice_Site	INS	ENST00000367265.3	37		CCDS30974.1																																																																																				0.347	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	Intron	37	90						37	90	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203819706	203819707	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819706_203819707insA	ENST00000545588.1	+	15	5830_5831	c.2003_2004insA	c.(2002-2007)ccaaaafs	p.PK668fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.PK668fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	668					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAATTGGCCCCAAAACGTAAGG	0.505																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2002-2004)caafs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819706_203819707insA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2007dupA	1.37:g.203819710_203819710dupA	ENSP00000438527:p.Pro668fs					ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.Q668fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.Q668fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.Q668fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.Q668fs	p.Q668fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	5830_5831	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		668					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.2003_2004insA	CCDS30978.1																																																																																				0.505	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		44	95						44	95	---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204082240	204082241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082240_204082241insT	ENST00000367204.1	+	2	306_307	c.197_198insT	c.(196-201)caggggfs	p.Q66fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	66					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCCAGCCCAGGGGAATTTCA	0.688																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(196-198)cggfs		SRY (sex determining region Y)-box 13																																				SO:0001589	frameshift_variant	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204082240_204082241insT		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	Exception_encountered	1.37:g.204082240_204082241insT	ENSP00000356172:p.Gln66fs					SOX13_ENST00000367203.4_3'UTR	p.R66fs	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	306_307	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		66					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Frame_Shift_Ins	INS	ENST00000367204.1	37	c.197_198insT	CCDS44299.1																																																																																				0.688	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		4	4						4	4	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211828delT	ENST00000329291.5	+	3	1192	c.1045delT	c.(1045-1047)tttfs	p.F350fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.F99fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(292-294)ttfs		piggyBac transposable element derived 2							112.0	116.0	115.0					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211828delT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1045delT	1.37:g.249211828delT	ENSP00000331643:p.Phe350fs					PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	p.F99fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	562	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	350					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.292delT	CCDS31128.1																																																																																				0.438	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			18	164						18	164	---	---	---	---
MSH2	4436	broad.mit.edu	37	2	47643491	47643492	+	Frame_Shift_Ins	INS	-	-	A	rs587779063		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47643491_47643492insA	ENST00000233146.2	+	6	1222_1223	c.999_1000insA	c.(1000-1002)aaafs	p.K334fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K268fs|MSH2_ENST00000406134.1_Frame_Shift_Ins_p.K334fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	334					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATAAGTGTAAAACCCCTCA	0.391			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112	GRCh37	CM011421	MSH2	M		c.(997-1002)tgaaacfs	Mismatch excision repair (MMR)	mutS homolog 2																																				SO:0001589	frameshift_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47643491_47643492insA	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1003dupA	2.37:g.47643495_47643495dupA	ENSP00000233146:p.Lys334fs					MSH2_ENST00000543555.1_Frame_Shift_Ins_p.N268fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.N334fs	p.N334fs			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	1061_1062	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	334					B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	37	c.999_1000insA	CCDS1834.1																																																																																				0.391	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			16	130						16	130	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54167139_54167140insG	ENST00000404125.1	-	4	556		c.e4-2		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347																																						ENST00000404125.1																			1	Unknown(1)	p.?(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.e4-2		proteasome (prosome, macropain) activator subunit 4				37,4227		0,37,2095						5.7	1.0			82	25,8229		0,25,4102	no	splice-3	PSME4	NM_014614.2		0,62,6197	A1A1,A1R,RR		0.3029,0.8677,0.4953				62,12456				SO:0001630	splice_region_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54167139_54167140insG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.501-2->C	2.37:g.54167147_54167147dupG						PSME4_ENST00000421748.2_Intron		NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		4	556	-								Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Splice_Site	INS	ENST00000404125.1	37		CCDS33197.2																																																																																				0.347	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	Intron	48	109						48	109	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61633019	61633020	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61633019_61633020insT	ENST00000398571.2	-	3	451_452	c.375_376insA	c.(373-378)aaatcafs	p.S126fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	126					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAGAGTTTGATTTTTTTTCTA	0.347																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(373-378)aacaaafs		ubiquitin specific peptidase 34																																				SO:0001589	frameshift_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61633019_61633020insT	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.376dupA	2.37:g.61633027_61633027dupT	ENSP00000381577:p.Ser126fs						p.NK125fs	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	451_452	-			125					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Ins	INS	ENST00000398571.2	37	c.375_376insA	CCDS42686.1																																																																																				0.347	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			34	58						34	58	---	---	---	---
TPRKB	51002	broad.mit.edu	37	2	73957782	73957783	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73957782_73957783insT	ENST00000272424.5	-	4	451_452	c.345_346insA	c.(343-348)aaacaafs	p.Q116fs	TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000318190.7_Frame_Shift_Ins_p.Q155fs|TPRKB_ENST00000409716.2_Frame_Shift_Ins_p.Q155fs	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	116					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						TGATTTATTTGTTTTTCTCCCT	0.292																																						ENST00000318190.7																			0				lung(2)|ovary(1)|skin(1)	4						c.(460-465)aaaaatfs		TP53RK binding protein																																				SO:0001589	frameshift_variant	51002				protein catabolic process	cytosol|nucleus	protein kinase binding	g.chr2:73957782_73957783insT	AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.346dupA	2.37:g.73957787_73957787dupT	ENSP00000272424:p.Gln116fs					TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000272424.5_Frame_Shift_Ins_p.N116fs|TPRKB_ENST00000409716.2_Frame_Shift_Ins_p.N155fs	p.N155fs			Q9Y3C4	TPRKB_HUMAN			5	582_583	-			116					D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	Frame_Shift_Ins	INS	ENST00000272424.5	37	c.462_463insA	CCDS1927.1																																																																																				0.292	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252046.2	NM_016058		22	59						22	59	---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95775727	95775728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95775727_95775728insT	ENST00000272418.2	-	4	544_545	c.336_337insA	c.(334-339)aaaggafs	p.G113fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	113					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCCTCTTCCTTTTTTTGCTC	0.381																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(334-339)aagaagfs		mitochondrial ribosomal protein S5																																				SO:0001589	frameshift_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775727_95775728insT	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.337dupA	2.37:g.95775734_95775734dupT	ENSP00000272418:p.Gly113fs						p.K113fs	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			4	544_545	-			113					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Ins	INS	ENST00000272418.2	37	c.336_337insA	CCDS2010.1																																																																																				0.381	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		48	92						48	92	---	---	---	---
ANKRD36C	400986	broad.mit.edu	37	2	96521244	96521245	+	Frame_Shift_Ins	INS	-	-	T	rs200875477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96521244_96521245insT	ENST00000456556.1	-	63	4848_4849	c.4764_4765insA	c.(4762-4767)aaacaafs	p.Q1589fs	ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.Q840fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.Q616fs			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1589							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AACATATTTTGTTTTTTTAGTT	0.332																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4762-4767)aaaaaafs		ankyrin repeat domain 36C																																				SO:0001589	frameshift_variant	400986							g.chr2:96521244_96521245insT	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4765dupA	2.37:g.96521251_96521251dupT	ENSP00000403302:p.Gln1589fs					ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.KK839fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.KK615fs	p.KK1588fs							63	4848_4849	-								C9JZ08|Q15694|Q53S06|Q658V2	Frame_Shift_Ins	INS	ENST00000456556.1	37	c.4764_4765insA																																																																																					0.332	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		21	152						21	152	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111399019	111399019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111399019delT	ENST00000302759.6	-	22	2766	c.2648delA	c.(2647-2649)aatfs	p.N883fs	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000535254.1_Frame_Shift_Del_p.N863fs|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	883	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTCAGGGGTATTTTTATAGAG	0.378																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2587-2589)atfs		BUB1 mitotic checkpoint serine/threonine kinase							95.0	99.0	98.0					2																	111399019		2203	4300	6503	SO:0001589	frameshift_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111399019delT	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2648delA	2.37:g.111399019delT	ENSP00000302530:p.Asn883fs					BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Frame_Shift_Del_p.N883fs|BUB1_ENST00000409311.1_Intron	p.N863fs	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2655	-		Ovarian(717;0.0822)	883			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Frame_Shift_Del	DEL	ENST00000302759.6	37	c.2588delA	CCDS33273.1																																																																																				0.378	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		7	178						7	178	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167055991	167055992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167055991_167055992insT	ENST00000409435.1	-	26	5156_5157	c.5157_5158insA	c.(5155-5160)aaagttfs	p.V1720fs	SCN9A_ENST00000303354.6_Frame_Shift_Ins_p.V1721fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Ins_p.V1709fs|SCN9A_ENST00000375387.4_Frame_Shift_Ins_p.V1721fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1720					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGGATGAACTTTTTTTGGGT	0.421																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5158-5163)aattcafs		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)																																			SO:0001589	frameshift_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055991_167055992insT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5158dupA	2.37:g.167055998_167055998dupT	ENSP00000386330:p.Val1720fs					SCN9A_ENST00000409672.1_Frame_Shift_Ins_p.NS1708fs|SCN9A_ENST00000375387.4_Frame_Shift_Ins_p.NS1720fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Frame_Shift_Ins_p.NS1719fs	p.NS1720fs			Q15858	SCN9A_HUMAN			27	5500_5501	-			1719					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Ins	INS	ENST00000409435.1	37	c.5160_5161insA	CCDS46441.1																																																																																				0.421	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		18	277						18	277	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168115079	168115080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115079_168115080insA	ENST00000409728.1	+	11	2211_2212	c.2122_2123insA	c.(2122-2124)gaafs	p.E708fs	XIRP2_ENST00000409756.2_Frame_Shift_Ins_p.E675fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Ins_p.E708fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Frame_Shift_Ins_p.E675fs|XIRP2_ENST00000409605.1_Frame_Shift_Ins_p.E453fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAAAATGAAAAAACTAAC	0.342																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2122-2124)aaafs		xin actin-binding repeat containing 2			,,,,	0,3626		0,0,1813					,,,,	5.7	1.0			39	1,7847		0,1,3923	no	utr-3,frameshift,utr-3,frameshift,frameshift	XIRP2	NM_152381.5,NM_001199145.1,NM_001199144.1,NM_001199143.1,NM_001079810.3	,,,,	0,1,5736	A1A1,A1R,RR		0.0127,0.0,0.0087	,,,,	,,,,		1,11473				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115079_168115080insA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2128dupA	2.37:g.168115085_168115085dupA	ENSP00000386619:p.Glu708fs					XIRP2_ENST00000409756.2_Frame_Shift_Ins_p.K675fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Ins_p.K708fs|XIRP2_ENST00000409605.1_Frame_Shift_Ins_p.K453fs|XIRP2_ENST00000409043.1_Frame_Shift_Ins_p.K675fs	p.K708fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2211_2212	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409728.1	37	c.2122_2123insA	CCDS56143.1																																																																																				0.342	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		10	30						10	30	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179720988	179720989	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179720988_179720989insT	ENST00000420890.2	-	18	2977_2978	c.2860_2861insA	c.(2860-2862)atgfs	p.M954fs	CCDC141_ENST00000295723.5_Frame_Shift_Ins_p.M379fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	954								p.M379fs*4(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTACCTGCATTTTTTCAGCA	0.297																																						ENST00000420890.2																			1	Deletion - Frameshift(1)	p.M379fs*4(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2860-2862)gcafs		coiled-coil domain containing 141																																				SO:0001589	frameshift_variant	285025						protein binding	g.chr2:179720988_179720989insT	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2861dupA	2.37:g.179720994_179720994dupT	ENSP00000395995:p.Met954fs					CCDC141_ENST00000295723.5_Frame_Shift_Ins_p.A379fs	p.A954fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		18	2977_2978	-			379					H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Ins	INS	ENST00000420890.2	37	c.2860_2861insA																																																																																					0.297	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		24	73						24	73	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187702251	187702251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187702251delT	ENST00000295131.2	-	5	564	c.525delA	c.(523-525)aaafs	p.K175fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	175					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTTCATGCATTTTATATGAA	0.318																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(523-525)aafs		zinc finger, SWIM-type containing 2							66.0	68.0	67.0					2																	187702251		2203	4299	6502	SO:0001589	frameshift_variant	151112				apoptosis		zinc ion binding	g.chr2:187702251delT	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.525delA	2.37:g.187702251delT	ENSP00000295131:p.Lys175fs						p.K175fs	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	564	-			175					B3KXV6|Q53SI3|Q57ZY3	Frame_Shift_Del	DEL	ENST00000295131.2	37	c.525delA	CCDS33348.1																																																																																				0.318	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		31	49						31	49	---	---	---	---
RFTN2	130132	broad.mit.edu	37	2	198480648	198480648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198480648delC	ENST00000295049.4	-	7	1642	c.1106delG	c.(1105-1107)ggafs	p.G369fs		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	369					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CAGAAGCCATCCGAATTCAGC	0.398																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(1105-1107)gafs		raftlin family member 2							89.0	75.0	80.0					2																	198480648		2201	4290	6491	SO:0001589	frameshift_variant	130132					plasma membrane		g.chr2:198480648delC	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1106delG	2.37:g.198480648delC	ENSP00000295049:p.Gly369fs						p.G369fs	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			7	1642	-			369					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Frame_Shift_Del	DEL	ENST00000295049.4	37	c.1106delG	CCDS2323.1																																																																																				0.398	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		2	4						2	4	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202569277	202569278	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202569277_202569278insA	ENST00000264276.6	-	32	5109_5110	c.4737_4738insT	c.(4735-4740)tttgagfs	p.E1580fs	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1580	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGATCTCCTCAAAAGTCTGCT	0.426																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(4735-4740)ttaggafs		amyotrophic lateral sclerosis 2 (juvenile)																																				SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202569277_202569278insA	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4738dupT	2.37:g.202569281_202569281dupA	ENSP00000264276:p.Glu1580fs					ALS2_ENST00000457679.2_3'UTR	p.LG1579fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			32	5109_5110	-			1579			VPS9.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Ins	INS	ENST00000264276.6	37	c.4737_4738insT	CCDS42800.1																																																																																				0.426	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		30	47						30	47	---	---	---	---
NBEAL1	65065	broad.mit.edu	37	2	204000598	204000599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204000598_204000599insA	ENST00000449802.1	+	27	4258_4259	c.3925_3926insA	c.(3925-3927)gaafs	p.E1309fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1309										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACTCTGATGAAAAAACAGAT	0.361																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3925-3927)aaafs		neurobeachin-like 1																																				SO:0001589	frameshift_variant	65065						binding	g.chr2:204000598_204000599insA	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.3931dupA	2.37:g.204000604_204000604dupA	ENSP00000399903:p.Glu1309fs						p.K1309fs	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			27	4258_4259	+			1309					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Ins	INS	ENST00000449802.1	37	c.3925_3926insA	CCDS46495.1																																																																																				0.361	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			20	34						20	34	---	---	---	---
MOGAT1	116255	broad.mit.edu	37	2	223554072	223554073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554072_223554073insT	ENST00000446656.3	+	3	362_363	c.362_363insT	c.(361-366)aattttfs	p.NF121fs		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	121					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCCTTTGGGAATTTTTCTGTAA	0.406																																					Ovarian(93;205 1446 2385 11581 25911)	ENST00000446656.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9						c.(361-363)attfs		monoacylglycerol O-acyltransferase 1																																				SO:0001589	frameshift_variant	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223554072_223554073insT	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.367dupT	2.37:g.223554077_223554077dupT	ENSP00000406674:p.Asn121fs						p.I121fs	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	3	362_363	+		Renal(207;0.0183)	121					Q6IEE5	Frame_Shift_Ins	INS	ENST00000446656.3	37	c.362_363insT	CCDS46524.1																																																																																				0.406	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		24	39						24	39	---	---	---	---
IRAK2	3656	broad.mit.edu	37	3	10283837	10283838	+	Frame_Shift_Ins	INS	-	-	A	rs367571127		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10283837_10283838insA	ENST00000256458.4	+	13	1893_1894	c.1803_1804insA	c.(1804-1806)aaafs	p.K602fs		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	602					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCAATGAGGCCAAAAGGAAACT	0.406																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(1801-1806)gcaaagfs		interleukin-1 receptor-associated kinase 2																																				SO:0001589	frameshift_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10283837_10283838insA	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1807dupA	3.37:g.10283841_10283841dupA	ENSP00000256458:p.Lys602fs						p.AK601fs	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			13	1893_1894	+			601					B4DQZ6|Q08AG6|Q5K546	Frame_Shift_Ins	INS	ENST00000256458.4	37	c.1803_1804insA	CCDS33697.1																																																																																				0.406	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			27	66						27	66	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14562059	14562059	+	RNA	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14562059delA	ENST00000273083.3	-	0	778							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATGACGGAGAAAAAAAGTTT	0.512																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							49.0	51.0	50.0					3																	14562059		1949	4139	6088			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14562059delA	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14562059delA										Q9C0E4	GRIP2_HUMAN			0	778	-								Q8TEH9|Q9H7H3	RNA	DEL	ENST00000273083.3	37																																																																																						0.512	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		10	30						10	30	---	---	---	---
CNOT10	25904	broad.mit.edu	37	3	32754743	32754744	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32754743_32754744insT	ENST00000328834.5	+	5	771_772	c.455_456insT	c.(454-459)tgttttfs	p.CF152fs	CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.CF212fs|CNOT10_ENST00000538368.1_Intron|CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.CF152fs	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	152					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAAGCAGTGTGTTTTTTGCTTG	0.361																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(454-456)tttfs		CCR4-NOT transcription complex, subunit 10																																				SO:0001589	frameshift_variant	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32754743_32754744insT	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.461dupT	3.37:g.32754749_32754749dupT	ENSP00000330060:p.Cys152fs					CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.F152fs|CNOT10_ENST00000538368.1_Intron|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.F212fs	p.F152fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			5	771_772	+			152					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Frame_Shift_Ins	INS	ENST00000328834.5	37	c.455_456insT	CCDS2655.1																																																																																				0.361	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		21	55						21	55	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47163376	47163377	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163376_47163377insT	ENST00000409792.3	-	3	2791_2792	c.2749_2750insA	c.(2749-2751)agtfs	p.S917fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	917					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACTCTGAACTTTTTTTACTC	0.431			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2749-2751)ttcfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163376_47163377insT	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2750dupA	3.37:g.47163383_47163383dupT	ENSP00000386759:p.Ser917fs						p.F917fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2791_2792	-		Acute lymphoblastic leukemia(5;0.0169)	917					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.2749_2750insA	CCDS2749.2																																																																																				0.431	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		44	105						44	105	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52668759	52668760	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52668759_52668760insA	ENST00000296302.7	-	11	1160_1161	c.1159_1160insT	c.(1159-1161)tatfs	p.Y387fs	PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Y355fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y387fs			Q86U86	PB1_HUMAN	polybromo 1	387					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAAGCTGATAAAAAGGATTT	0.371			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1063-1065)tcafs		polybromo 1																																				SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52668759_52668760insA	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1160dupT	3.37:g.52668764_52668764dupA	ENSP00000296302:p.Tyr387fs					PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.S387fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.S387fs	p.S355fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1065_1066	-			387					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37	c.1063_1064insT																																																																																					0.371	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		53	55						53	55	---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57276920	57276921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57276920_57276921insA	ENST00000288266.3	+	7	599_600	c.452_453insA	c.(451-456)tcaaaafs	p.SK151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCCGTTTATCAAAAAAAAGAG	0.297																																						ENST00000288266.3																			1	Deletion - Frameshift(1)	p.R154fs*6(1)	large_intestine(1)	breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(451-453)taafs		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1																																				SO:0001589	frameshift_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57276920_57276921insA	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.460dupA	3.37:g.57276928_57276928dupA	ENSP00000288266:p.Ser151fs						p.*151fs	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	7	599_600	+			151			Required for RAB5A binding.		Q9P2B9	Frame_Shift_Ins	INS	ENST00000288266.3	37	c.452_453insA	CCDS2882.1																																																																																				0.297	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		20	49						20	49	---	---	---	---
GXYLT2	727936	broad.mit.edu	37	3	73024186	73024187	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73024186_73024187insG	ENST00000389617.4	+	7	1369_1370	c.1208_1209insG	c.(1207-1212)ttggagfs	p.E404fs		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	404					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CTGAAGTTTTTGGAGACTGTGC	0.371																																						ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1207-1209)tgafs		glucoside xylosyltransferase 2																																				SO:0001589	frameshift_variant	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73024186_73024187insG	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1210dupG	3.37:g.73024188_73024188dupG	ENSP00000374268:p.Glu404fs						p.*403fs	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			7	1369_1370	+			403						Frame_Shift_Ins	INS	ENST00000389617.4	37	c.1208_1209insG	CCDS46870.1																																																																																				0.371	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		41	87						41	87	---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88040823	88040823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040823delT	ENST00000319595.4	+	1	978	c.924delT	c.(922-924)cctfs	p.P308fs		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	308	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTTGGCTTCCTTTTTTTGTAA	0.368																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(922-924)ccfs		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						72.0	79.0	77.0					3																	88040823		2203	4300	6503	SO:0001589	frameshift_variant	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040823delT	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.924delT	3.37:g.88040823delT	ENSP00000322924:p.Pro308fs						p.P308fs	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	978	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	308						Frame_Shift_Del	DEL	ENST00000319595.4	37	c.924delT	CCDS2920.1																																																																																				0.368	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		17	26						17	26	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98518429	98518429	+	Frame_Shift_Del	DEL	C	C	-	rs141432727	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98518429delC	ENST00000326840.6	-	16	2477	c.2115delG	c.(2113-2115)gggfs	p.G705fs	DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.G719fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	705					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGGTTGGTTCCCCGTAGCCT	0.552																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(2113-2115)ggfs		discoidin, CUB and LCCL domain containing 2							164.0	166.0	165.0					3																	98518429		1937	4156	6093	SO:0001589	frameshift_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518429delC		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2115delG	3.37:g.98518429delC	ENSP00000321573:p.Gly705fs					DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.G719fs	p.G705fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			16	2477	-			705					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Frame_Shift_Del	DEL	ENST00000326840.6	37	c.2115delG	CCDS46878.1																																																																																				0.552	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		10	113						10	113	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)cccfs		protein disulfide isomerase family A, member 5				3,4263		0,3,2130						2.4	1.0			51	1,8251		0,1,4125	no	frameshift	PDIA5	NM_006810.3		0,4,6255	A1A1,A1R,RR		0.0121,0.0703,0.032				4,12514				SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869088_122869089insC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1157dupC	3.37:g.122869095_122869095dupC	ENSP00000323313:p.Ala384fs					PDIA5_ENST00000467157.1_3'UTR	p.P384fs	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1245_1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Ins	INS	ENST00000316218.7	37	c.1150_1151insC	CCDS3020.1																																																																																				0.604	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		19	73						19	73	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133329880delT	ENST00000260810.5	-	25	4272	c.4141delA	c.(4141-4143)atcfs	p.I1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTTGCTGGATTTTTTTTCTC	0.343								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(4141-4143)tcfs	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							233.0	226.0	228.0					3																	133329880		1875	4104	5979	SO:0001589	frameshift_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133329880delT	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4141delA	3.37:g.133329880delT	ENSP00000260810:p.Ile1381fs						p.I1381fs	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			25	4272	-			1381					B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Del	DEL	ENST00000260810.5	37	c.4141delA	CCDS46919.1																																																																																				0.343	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		18	192						18	192	---	---	---	---
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317				AC097103.1_ENST00000580166.1_RNA																							GATGACCAAGGCCCCCCCTTGT	0.53																																						ENST00000515247.1																			0																																																			0							g.chr3:139212981_139212982insC																													3.37:g.139212988_139212988dupC														0	317	+									RNA	INS	ENST00000515247.1	37																																																																																						0.530	RP11-319G6.1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000358488.1			7	9						7	9	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149290789	149290790	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:149290789_149290790insA	ENST00000465804.1	-	4	688		c.e4-2		WWTR1_ENST00000360632.3_Splice_Site|WWTR1_ENST00000467467.1_Splice_Site	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCTATGTGACTAAAAGAAGGAA	0.386			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.e4-2		WW domain containing transcription regulator 1																																				SO:0001630	splice_region_variant	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149290789_149290790insA	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.432-2->T	3.37:g.149290793_149290793dupA						WWTR1_ENST00000360632.3_Splice_Site|WWTR1_ENST00000467467.1_Splice_Site		NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	688	-								D3DNH7|Q8N3P2|Q9Y3W6	Splice_Site	INS	ENST00000465804.1	37		CCDS3144.1																																																																																				0.386	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472	Intron	22	61						22	61	---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046359	151046360	+	Frame_Shift_Ins	INS	-	-	T	rs199623818		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151046359_151046360insT	ENST00000325602.5	-	2	503_504	c.484_485insA	c.(484-486)acgfs	p.T162fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	162					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GATTGAGACCGTTTTTGCAAAA	0.406																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(484-486)ggtfs		purinergic receptor P2Y, G-protein coupled, 13																																				SO:0001589	frameshift_variant	53829					integral to membrane|plasma membrane		g.chr3:151046359_151046360insT	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.485dupA	3.37:g.151046364_151046364dupT	ENSP00000320376:p.Thr162fs					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	p.G162fs	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	503_504	-			162					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Frame_Shift_Ins	INS	ENST00000325602.5	37	c.484_485insA	CCDS3158.2																																																																																				0.406	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		20	35						20	35	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154041998	154041999	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154041998_154041999insT	ENST00000496811.1	-	1	287_288	c.207_208insA	c.(205-210)aaacagfs	p.Q70fs	DHX36_ENST00000308361.6_Frame_Shift_Ins_p.Q70fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.Q70fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.Q70fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	70	RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.|Sufficient and required for interaction with TERC 5'-end.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTGCCCCTGTTTTTTCGCGT	0.634																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(205-210)aaagggfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154041998_154041999insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.208dupA	3.37:g.154042004_154042004dupT	ENSP00000417078:p.Gln70fs					DHX36_ENST00000329463.5_Frame_Shift_Ins_p.G70fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.G70fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.G70fs	p.G70fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	287_288	-			70					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.207_208insA	CCDS3171.1																																																																																				0.634	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		10	189						10	189	---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155560396	155560396	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155560396delA	ENST00000392845.3	-	2	1168	c.788delT	c.(787-789)ttcfs	p.F263fs	SLC33A1_ENST00000359479.3_Frame_Shift_Del_p.F263fs|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	263					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTCCCCAGAAAAAAAGGAA	0.244																																						ENST00000392845.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(787-789)tcfs		solute carrier family 33 (acetyl-CoA transporter), member 1							43.0	40.0	41.0					3																	155560396		2202	4296	6498	SO:0001589	frameshift_variant	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155560396delA	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.788delT	3.37:g.155560396delA	ENSP00000376587:p.Phe263fs					SLC33A1_ENST00000359479.3_Frame_Shift_Del_p.F263fs	p.F263fs	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		2	1168	-			263					B2R5Q2|D3DNK4	Frame_Shift_Del	DEL	ENST00000392845.3	37	c.788delT	CCDS3173.1																																																																																				0.244	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		10	23						10	23	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173993227	173993228	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:173993227_173993228insT	ENST00000457714.1	+	5	1198_1199	c.769_770insT	c.(769-771)gttfs	p.V257fs	NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.V257fs|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.V297fs|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.V257fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	274					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGAATCACTGTTTTTGGATCT	0.431																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(769-771)tttfs		neuroligin 1																																				SO:0001589	frameshift_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173993227_173993228insT	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.774dupT	3.37:g.173993232_173993232dupT	ENSP00000392500:p.Val257fs					NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.F257fs|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.F297fs|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.F257fs	p.F257fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		5	1198_1199	+	Ovarian(172;0.0025)		274					Q9UPT2	Frame_Shift_Ins	INS	ENST00000457714.1	37	c.769_770insT	CCDS3222.1																																																																																				0.431	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		38	67						38	67	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	174814914	174814914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:174814914delA	ENST00000454872.1	+	2	506	c.378delA	c.(376-378)ttafs	p.L126fs	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	126						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCCACGTCTTAAAAATACTTT	0.388																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(376-378)ttfs		N-acetylated alpha-linked acidic dipeptidase-like 2							100.0	102.0	102.0					3																	174814914		1837	4093	5930	SO:0001589	frameshift_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814914delA		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.378delA	3.37:g.174814914delA	ENSP00000404705:p.Leu126fs					NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	p.L126fs	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	506	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	126					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Frame_Shift_Del	DEL	ENST00000454872.1	37	c.378delA	CCDS46960.1																																																																																				0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		12	116						12	116	---	---	---	---
ACAP2	23527	broad.mit.edu	37	3	195017950	195017950	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195017950delT	ENST00000326793.6	-	16	1686	c.1456delA	c.(1456-1458)atgfs	p.M486fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	486	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTATTCCCATTTTTTCCACA	0.313																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1456-1458)tgfs		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							160.0	161.0	160.0					3																	195017950		2203	4297	6500	SO:0001589	frameshift_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195017950delT		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1456delA	3.37:g.195017950delT	ENSP00000324287:p.Met486fs						p.M486fs	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			16	1686	-			486			Arf-GAP.		A8K2V4|Q8N5Z8|Q9UQR3	Frame_Shift_Del	DEL	ENST00000326793.6	37	c.1456delA	CCDS33924.1																																																																																				0.313	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		9	123						9	123	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196857544	196857545	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196857544_196857545insA	ENST00000419354.1	-	12	1406		c.e12-2		DLG1_ENST00000450955.1_Splice_Site|DLG1_ENST00000448528.2_Splice_Site|DLG1_ENST00000422288.1_Splice_Site|DLG1_ENST00000357674.4_Splice_Site|DLG1_ENST00000346964.2_Splice_Site|DLG1_ENST00000392382.2_Splice_Site|DLG1_ENST00000314062.3_Splice_Site|DLG1_ENST00000443183.1_Splice_Site|DLG1_ENST00000452595.1_Splice_Site			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.e12-2		discs, large homolog 1 (Drosophila)			,,,,	0,4266		0,0,2133					,,,,	5.7	1.0			69	1,8251		0,1,4125	no	splice-3,splice-3,splice-3,splice-3,splice-3	DLG1	NM_004087.2,NM_001204388.1,NM_001204387.1,NM_001204386.1,NM_001098424.1	,,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,,	,,,,		1,12517				SO:0001630	splice_region_variant	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196857544_196857545insA	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1120-2->T	3.37:g.196857551_196857551dupA						DLG1_ENST00000452595.1_Splice_Site|DLG1_ENST00000450955.1_Splice_Site|DLG1_ENST00000448528.2_Splice_Site|DLG1_ENST00000443183.1_Splice_Site|DLG1_ENST00000422288.1_Splice_Site|DLG1_ENST00000419354.1_Splice_Site|DLG1_ENST00000392382.2_Splice_Site|DLG1_ENST00000357674.4_Splice_Site|DLG1_ENST00000314062.3_Splice_Site		NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	12	1309	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)						A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Splice_Site	INS	ENST00000419354.1	37		CCDS43194.1																																																																																				0.332	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087	Intron	22	36						22	36	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2661593delC	ENST00000324666.5	+	8	1035	c.684delC	c.(682-684)gacfs	p.D228fs	FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gafs		family with sequence similarity 193, member A							199.0	170.0	180.0					4																	2661593		2203	4300	6503	SO:0001589	frameshift_variant	8603							g.chr4:2661593delC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.684delC	4.37:g.2661593delC	ENSP00000324587:p.Asp228fs					FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs	p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			8	1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	ENST00000324666.5	37	c.684delC	CCDS58875.1																																																																																				0.522	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		33	72						33	72	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6066711	6066712	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066711_6066712insA	ENST00000282924.5	-	9	1811_1812	c.1326_1327insT	c.(1324-1329)tttggafs	p.G443fs	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Frame_Shift_Ins_p.G278fs|JAKMIP1_ENST00000409021.3_Frame_Shift_Ins_p.G443fs|JAKMIP1_ENST00000409831.1_Frame_Shift_Ins_p.G443fs|JAKMIP1_ENST00000409371.3_Frame_Shift_Ins_p.G258fs	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	443	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCATCAAATCCAAAAAATGTCT	0.49																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1324-1329)ttgattfs		janus kinase and microtubule interacting protein 1																																				SO:0001589	frameshift_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6066711_6066712insA	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1327dupT	4.37:g.6066717_6066717dupA	ENSP00000282924:p.Gly443fs					JAKMIP1_ENST00000409831.1_Frame_Shift_Ins_p.LI442fs|JAKMIP1_ENST00000410077.2_Frame_Shift_Ins_p.LI277fs|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Frame_Shift_Ins_p.LI442fs|JAKMIP1_ENST00000409371.3_Frame_Shift_Ins_p.LI257fs	p.LI442fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			9	1775_1776	-			442			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Frame_Shift_Ins	INS	ENST00000282924.5	37	c.1326_1327insT	CCDS3385.1																																																																																				0.490	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		22	60						22	60	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8218777	8218778	+	Frame_Shift_Ins	INS	-	-	T	rs149468044|rs544129098	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8218777_8218778insT	ENST00000245105.3	+	7	789_790	c.722_723insT	c.(721-726)tcggggfs	p.SG241fs	SH3TC1_ENST00000539824.1_Frame_Shift_Ins_p.SG165fs	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	241										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCAGGCTTCGGGGGCACCCC	0.673																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(493-495)tggfs		SH3 domain and tetratricopeptide repeats 1																																				SO:0001589	frameshift_variant	54436						binding	g.chr4:8218777_8218778insT	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	Exception_encountered	4.37:g.8218777_8218778insT	ENSP00000245105:p.Ser241fs					SH3TC1_ENST00000245105.3_Frame_Shift_Ins_p.W241fs	p.W165fs			Q8TE82	S3TC1_HUMAN			7	868_869	+			241					Q4W5G5	Frame_Shift_Ins	INS	ENST00000245105.3	37	c.494_495insT	CCDS3399.1																																																																																				0.673	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		8	36						8	36	---	---	---	---
MED28	80306	broad.mit.edu	37	4	17623272	17623273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17623272_17623273insA	ENST00000237380.7	+	3	313_314	c.289_290insA	c.(289-291)caafs	p.Q97fs		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	97					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						TTTTTTCTTACAAAAAAGATTG	0.337																																						ENST00000237380.6																			0				lung(6)|skin(2)	8						c.(289-291)aaafs		mediator complex subunit 28																																				SO:0001589	frameshift_variant	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17623272_17623273insA	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.295dupA	4.37:g.17623278_17623278dupA	ENSP00000237380:p.Gln97fs						p.K97fs	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN			3	313_314	+			97					Q9BZJ5	Frame_Shift_Ins	INS	ENST00000237380.7	37	c.289_290insA	CCDS33963.1																																																																																				0.337	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		33	61						33	61	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37863187	37863188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37863187_37863188insT	ENST00000381967.4	+	14	1893_1894	c.1793_1794insT	c.(1792-1797)cattttfs	p.HF598fs	PGM2_ENST00000537241.1_Frame_Shift_Ins_p.HF438fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	598					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTGAAGAACATTTTTTCCAGC	0.411																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1792-1794)cttfs		phosphoglucomutase 2																																				SO:0001589	frameshift_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37863187_37863188insT	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1799dupT	4.37:g.37863193_37863193dupT	ENSP00000371393:p.His598fs					PGM2_ENST00000537241.1_Frame_Shift_Ins_p.L438fs	p.L598fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			14	1893_1894	+			598					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Frame_Shift_Ins	INS	ENST00000381967.4	37	c.1793_1794insT	CCDS3443.1																																																																																				0.411	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		41	168						41	168	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46067578	46067578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067578delA	ENST00000295452.4	-	4	512	c.345delT	c.(343-345)tttfs	p.F115fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	115					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGTTTGGGCAAAAATTATAT	0.284																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(343-345)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							31.0	32.0	31.0					4																	46067578		2198	4297	6495	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067578delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.345delT	4.37:g.46067578delA	ENSP00000295452:p.Phe115fs						p.F115fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	512	-			115					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.345delT	CCDS3470.1																																																																																				0.284	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		21	16						21	16	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46981050	46981050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46981050delT	ENST00000264318.3	-	3	1253	c.271delA	c.(271-273)atgfs	p.M91fs		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	91					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATACCTACCATTTCAACATCA	0.333																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(271-273)tgfs		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						88.0	80.0	83.0					4																	46981050		2203	4298	6501	SO:0001589	frameshift_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46981050delT		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.271delA	4.37:g.46981050delT	ENSP00000264318:p.Met91fs						p.M91fs	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			3	1253	-			91					Q8IYR7	Frame_Shift_Del	DEL	ENST00000264318.3	37	c.271delA	CCDS3473.1																																																																																				0.333	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			9	43						9	43	---	---	---	---
OCIAD1	54940	broad.mit.edu	37	4	48859372	48859372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48859372delA	ENST00000381473.3	+	8	1108	c.690delA	c.(688-690)ccafs	p.P230fs	OCIAD1_ENST00000396448.2_Intron|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000264312.7_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000509122.1_Frame_Shift_Del_p.P203fs|OCIAD1_ENST00000508293.1_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000513391.2_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000425583.2_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	230						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAAGAGTGCCAAAAAAAGAAG	0.303																																						ENST00000381473.3																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(688-690)ccfs		OCIA domain containing 1							55.0	58.0	57.0					4																	48859372		2203	4297	6500	SO:0001589	frameshift_variant	54940					endosome	protein binding	g.chr4:48859372delA	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.690delA	4.37:g.48859372delA	ENSP00000370882:p.Pro230fs					OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000264312.7_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000513391.2_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000396448.2_Intron|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000509122.1_Frame_Shift_Del_p.P203fs|OCIAD1_ENST00000508293.1_Frame_Shift_Del_p.P230fs	p.P230fs	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN			8	1108	+			230					C9K030|G8JLN7|Q9BZE8	Frame_Shift_Del	DEL	ENST00000381473.3	37	c.690delA	CCDS3484.1																																																																																				0.303	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		8	97						8	97	---	---	---	---
CSN1S1	1446	broad.mit.edu	37	4	70810694	70810695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70810694_70810695insA	ENST00000246891.4	+	15	578_579	c.529_530insA	c.(529-531)gaafs	p.E177fs	CSN1S1_ENST00000444405.3_Frame_Shift_Ins_p.E168fs|CSN1S1_ENST00000505782.1_Frame_Shift_Ins_p.E161fs|CSN1S1_ENST00000507772.1_Frame_Shift_Ins_p.E169fs|CSN1S1_ENST00000507763.1_Frame_Shift_Ins_p.E168fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	177						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGAAAATTATGAAAAAAATAAC	0.391																																						ENST00000246891.4																			0				lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(529-531)aaafs		casein alpha s1																																				SO:0001589	frameshift_variant	0					extracellular region	protein binding|transporter activity	g.chr4:70810694_70810695insA	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.536dupA	4.37:g.70810701_70810701dupA	ENSP00000246891:p.Glu177fs					CSN1S1_ENST00000507772.1_Frame_Shift_Ins_p.K169fs|CSN1S1_ENST00000505782.1_Frame_Shift_Ins_p.K161fs|CSN1S1_ENST00000507763.1_Frame_Shift_Ins_p.K168fs|CSN1S1_ENST00000444405.3_Frame_Shift_Ins_p.K168fs	p.K177fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN			15	578_579	+			177					A1A510|A1A511|E9PB60|Q4PNR5	Frame_Shift_Ins	INS	ENST00000246891.4	37	c.529_530insA	CCDS47067.1																																																																																				0.391	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			45	86						45	86	---	---	---	---
HNRNPD	3184	broad.mit.edu	37	4	83279883	83279883	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279883delT	ENST00000313899.7	-	4	827	c.550delA	c.(550-552)attfs	p.I184fs	HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.I30fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.I165fs|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.I184fs|HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.I132fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	184	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CCAACAAAAATTTTTTTAACC	0.368																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(550-552)ttfs		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							69.0	73.0	72.0					4																	83279883		2203	4300	6503	SO:0001589	frameshift_variant	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83279883delT	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.550delA	4.37:g.83279883delT	ENSP00000313199:p.Ile184fs					HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.I30fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.I165fs|HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.I132fs|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.I184fs	p.I184fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			4	827	-			184			RRM 2.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Frame_Shift_Del	DEL	ENST00000313899.7	37	c.550delA	CCDS3592.1																																																																																				0.368	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		12	92						12	92	---	---	---	---
HPSE	10855	broad.mit.edu	37	4	84216533	84216533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84216533delA	ENST00000405413.2	-	13	1732	c.1596delT	c.(1594-1596)tttfs	p.F532fs	HPSE_ENST00000513463.1_Frame_Shift_Del_p.F474fs|HPSE_ENST00000512196.1_Frame_Shift_Del_p.F458fs|HPSE_ENST00000311412.5_Frame_Shift_Del_p.F532fs	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	532	Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation.				carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	TTCTTATCACAAAAAAACTAT	0.383																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1594-1596)ttfs		heparanase	Heparin(DB01109)						89.0	95.0	93.0					4																	84216533		2203	4300	6503	SO:0001589	frameshift_variant	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84216533delA	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1596delT	4.37:g.84216533delA	ENSP00000384262:p.Phe532fs					HPSE_ENST00000513463.1_Frame_Shift_Del_p.F474fs|HPSE_ENST00000311412.5_Frame_Shift_Del_p.F532fs|HPSE_ENST00000512196.1_Frame_Shift_Del_p.F458fs	p.F532fs	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	13	1732	-		Hepatocellular(203;0.114)	532			Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation.		A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Frame_Shift_Del	DEL	ENST00000405413.2	37	c.1596delT	CCDS3602.1																																																																																				0.383	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		14	117						14	117	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85719252	85719253	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85719252_85719253insA	ENST00000295888.4	-	18	3238_3239	c.2831_2832insT	c.(2830-2832)ttafs	p.L944fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.L944fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	944					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCCAAACGTAAAAACTCCCT	0.317																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2830-2832)tcgfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85719252_85719253insA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2832dupT	4.37:g.85719257_85719257dupA	ENSP00000295888:p.Leu944fs					WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.S944fs	p.S944fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	18	3238_3239	-		Hepatocellular(203;0.114)	944					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	37	c.2831_2832insT	CCDS3609.1																																																																																				0.317	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		34	49						34	49	---	---	---	---
STPG2	285555	broad.mit.edu	37	4	99027104	99027105	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99027104_99027105insT	ENST00000295268.3	-	5	700_701	c.611_612insA	c.(610-612)aag>aaAg	p.K204fs		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	204																	TTCAACTTACCTTTTTTTTCTC	0.302																																						ENST00000295268.3																			0											c.e5+1		sperm-tail PG-rich repeat containing 2																																				SO:0001630	splice_region_variant	285555							g.chr4:99027104_99027105insT	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.612+1->A	4.37:g.99027112_99027112dupT							p.K204_splice	NM_174952.2	NP_777612.1					5	700_701	-									Splice_Site	INS	ENST00000295268.3	37	c.612_splice	CCDS3645.1																																																																																				0.302	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	Frame_Shift_Ins	8	20						8	20	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104053958	104053959	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104053958_104053959insA	ENST00000265148.3	-	42	6904_6905	c.6815_6816insT	c.(6814-6816)ttgfs	p.L2272fs	CENPE_ENST00000380026.3_Frame_Shift_Ins_p.L2151fs	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2272	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCACTCTTCCAAAAACTGTGT	0.312																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(6814-6816)tgafs		centromere protein E, 312kDa																																				SO:0001589	frameshift_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104053958_104053959insA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6816dupT	4.37:g.104053963_104053963dupA	ENSP00000265148:p.Leu2272fs					CENPE_ENST00000380026.3_Frame_Shift_Ins_p.*2151fs	p.*2272fs	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	42	6904_6905	-			2272			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Frame_Shift_Ins	INS	ENST00000265148.3	37	c.6815_6816insT	CCDS34042.1																																																																																				0.312	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				26	68						26	68	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106158447	106158447	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106158447delA	ENST00000540549.1	+	3	4208	c.3348delA	c.(3346-3348)atafs	p.I1116fs	TET2_ENST00000413648.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.I1116fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.I1137fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.I1116fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1116					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATACTCCTATAAAAAATTTAT	0.363			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3409-3411)atfs		tet methylcytosine dioxygenase 2							48.0	55.0	53.0					4																	106158447		2203	4300	6503	SO:0001589	frameshift_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158447delA	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3348delA	4.37:g.106158447delA	ENSP00000442788:p.Ile1116fs					TET2_ENST00000305737.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.I1116fs|TET2_ENST00000540549.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.I1116fs	p.I1137fs			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	4208	+		Myeloproliferative disorder(5;0.0393)	1116					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	c.3411delA	CCDS47120.1																																																																																				0.363	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		40	56						40	56	---	---	---	---
IL15	3600	broad.mit.edu	37	4	142653933	142653934	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142653933_142653934insA	ENST00000296545.7	+	8	1265_1266	c.421_422insA	c.(421-423)gaafs	p.E141fs	IL15_ENST00000320650.4_Frame_Shift_Ins_p.E141fs|IL15_ENST00000514653.1_Frame_Shift_Ins_p.E114fs|IL15_ENST00000477265.1_Frame_Shift_Ins_p.E114fs|IL15_ENST00000529613.1_Frame_Shift_Ins_p.E141fs|IL15_ENST00000394159.1_Frame_Shift_Ins_p.E114fs			P40933	IL15_HUMAN	interleukin 15	141				E -> K (in Ref. 4; AAB97518). {ECO:0000305}.	aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GGAACTGGAGGAAAAAAATATT	0.272																																					Pancreas(10;184 986 25902)	ENST00000477265.1																			0				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(340-342)aaafs		interleukin 15																																				SO:0001589	frameshift_variant	3600				cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity	g.chr4:142653933_142653934insA	U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.428dupA	4.37:g.142653940_142653940dupA	ENSP00000296545:p.Glu141fs					IL15_ENST00000514653.1_Frame_Shift_Ins_p.K114fs|IL15_ENST00000320650.4_Frame_Shift_Ins_p.K141fs|IL15_ENST00000296545.7_Frame_Shift_Ins_p.K141fs|IL15_ENST00000394159.1_Frame_Shift_Ins_p.K114fs|IL15_ENST00000529613.1_Frame_Shift_Ins_p.K141fs	p.K114fs			P40933	IL15_HUMAN			7	5348_5349	+	all_hematologic(180;0.158)		141					D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Frame_Shift_Ins	INS	ENST00000296545.7	37	c.340_341insA	CCDS3755.1																																																																																				0.272	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257278.2	NM_172175		26	82						26	82	---	---	---	---
ABCE1	6059	broad.mit.edu	37	4	146044650	146044651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146044650_146044651insG	ENST00000296577.4	+	16	2053_2054	c.1538_1539insG	c.(1537-1542)aagacafs	p.T514fs	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	514	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)	p.K513R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATGCAAAAAAGACAGCCTTTG	0.371																																						ENST00000296577.4																			1	Substitution - Missense(1)	p.K513R(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(1537-1539)aacfs		ATP-binding cassette, sub-family E (OABP), member 1																																				SO:0001589	frameshift_variant	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146044650_146044651insG	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1539dupG	4.37:g.146044651_146044651dupG	ENSP00000296577:p.Thr514fs					OTUD4_ENST00000455611.2_Intron	p.N513fs	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			16	2053_2054	+	all_hematologic(180;0.151)		513			ABC transporter 2.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Frame_Shift_Ins	INS	ENST00000296577.4	37	c.1538_1539insG	CCDS34071.1																																																																																				0.371	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		22	38						22	38	---	---	---	---
C4orf27	54969	broad.mit.edu	37	4	170663239	170663240	+	Frame_Shift_Ins	INS	-	-	T	rs34118589		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170663239_170663240insT	ENST00000393381.2	-	5	591_592	c.516_517insA	c.(514-519)aaacttfs	p.L173fs		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	173						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTCTCTAAGTTTTTTCGTCA	0.361																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(514-519)aattagfs		chromosome 4 open reading frame 27																																				SO:0001589	frameshift_variant	54969					nucleus		g.chr4:170663239_170663240insT	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.517dupA	4.37:g.170663245_170663245dupT	ENSP00000406598:p.Leu173fs						p.N*172fs	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	5	591_592	-		Prostate(90;0.00601)|Renal(120;0.0183)	172						Frame_Shift_Ins	INS	ENST00000393381.2	37	c.516_517insA	CCDS3813.1																																																																																				0.361	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		7	63						7	63	---	---	---	---
CLDN22	53842	broad.mit.edu	37	4	184241250	184241250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184241250delT	ENST00000323319.5	-	1	677	c.122delA	c.(121-123)aatfs	p.N41fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	41					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCCATTTCATTTAAGTCCAG	0.468																																						ENST00000323319.5																			0				cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						c.(121-123)atfs		claudin 22							115.0	105.0	108.0					4																	184241250		1568	3582	5150	SO:0001589	frameshift_variant	53842				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr4:184241250delT	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.122delA	4.37:g.184241250delT	ENSP00000318113:p.Asn41fs					WWC2_ENST00000403733.3_3'UTR	p.N41fs	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	677	-		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)	41						Frame_Shift_Del	DEL	ENST00000323319.5	37	c.122delA	CCDS43286.1																																																																																				0.468	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			8	111						8	111	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13781003	13781004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13781003_13781004insT	ENST00000265104.4	-	53	8989_8990	c.8885_8886insA	c.(8884-8886)aagfs	p.K2962fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2962	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGGCTCTGCTTTCCTGATCC	0.465									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8884-8886)acafs		dynein, axonemal, heavy chain 5																																				SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13781003_13781004insT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8886dupA	5.37:g.13781006_13781006dupT	ENSP00000265104:p.Lys2962fs						p.T2962fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			53	8989_8990	-	Lung NSC(4;0.00476)		2962			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	c.8885_8886insA	CCDS3882.1																																																																																				0.465	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		19	20						19	20	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						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.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	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.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			35	84						35	84	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36986241	36986242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36986241_36986242insA	ENST00000282516.8	+	10	3458_3459	c.2959_2960insA	c.(2959-2961)gaafs	p.E987fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.E987fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	987					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACAAAGTAGAAAAAATAGGA	0.337																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2959-2961)aaafs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986241_36986242insA	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2965dupA	5.37:g.36986247_36986247dupA	ENSP00000282516:p.Glu987fs					NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.K987fs|NIPBL_ENST00000504430.1_3'UTR	p.K987fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3458_3459	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		987					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Ins	INS	ENST00000282516.8	37	c.2959_2960insA	CCDS3920.1																																																																																				0.337	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		28	151						28	151	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37148318	37148319	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37148318_37148319insT	ENST00000508244.1	-	41	8356_8357	c.8263_8264insA	c.(8263-8265)acafs	p.T2755fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.T2755fs|C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.T1653fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2755						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCTAATGTTTTTTTGAAT	0.371																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4957-4959)attfs		chromosome 5 open reading frame 42																																				SO:0001589	frameshift_variant	65250							g.chr5:37148318_37148319insT		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8264dupA	5.37:g.37148325_37148325dupT	ENSP00000421690:p.Thr2755fs					C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.I2755fs|C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.I2755fs	p.I1653fs			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		42	8544_8545	-	all_lung(31;0.000616)		2755					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	ENST00000508244.1	37	c.4957_4958insA	CCDS34146.2																																																																																				0.371	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		19	29						19	29	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52376441	52376441	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376441delA	ENST00000296585.5	+	25	3172	c.3029delA	c.(3028-3030)caafs	p.Q1010fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1010					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACTGGGGTGCAAACAGACAAG	0.378																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3028-3030)cafs		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							123.0	117.0	119.0					5																	52376441		2203	4300	6503	SO:0001589	frameshift_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52376441delA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3029delA	5.37:g.52376441delA	ENSP00000296585:p.Gln1010fs						p.Q1010fs	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			25	3172	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	1010					Q14595	Frame_Shift_Del	DEL	ENST00000296585.5	37	c.3029delA	CCDS3957.1																																																																																				0.378	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		7	53						7	53	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52397989	52397990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397989_52397990insA	ENST00000396954.3	-	4	840_841	c.163_164insT	c.(163-165)tcafs	p.S55fs	MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000508922.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTCATCTACTGAAAGTTTCTCG	0.347																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(163-165)agtfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52397989_52397990insA	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.164dupT	5.37:g.52397992_52397992dupA	ENSP00000380157:p.Ser55fs					MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR	p.S55fs	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			4	840_841	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.163_164insT	CCDS3958.1																																																																																				0.347	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		17	24						17	24	---	---	---	---
PLK2	10769	broad.mit.edu	37	5	57750455	57750456	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57750455_57750456insT	ENST00000274289.3	-	14	2312_2313	c.2012_2013insA	c.(2011-2013)aatfs	p.N671fs	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	671	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATTCCATTCGATTTTTTAATTC	0.401																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(2011-2013)acgfs		polo-like kinase 2																																				SO:0001589	frameshift_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57750455_57750456insT		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.2013dupA	5.37:g.57750461_57750461dupT	ENSP00000274289:p.Asn671fs					PLK2_ENST00000502671.1_Intron	p.T671fs	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	14	2312_2313	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	671			POLO box 2.		O60679|Q96CV7|Q9UE61	Frame_Shift_Ins	INS	ENST00000274289.3	37	c.2012_2013insA	CCDS3974.1																																																																																				0.401	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		42	89						42	89	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70791221delA	ENST00000358731.4	+	12	2048	c.1785delA	c.(1783-1785)ctafs	p.L595fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	595					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGTTGACCTAAAAAATAATT	0.303																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1783-1785)ctfs		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							92.0	87.0	88.0					5																	70791221		1799	4072	5871	SO:0001589	frameshift_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70791221delA	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1785delA	5.37:g.70791221delA	ENSP00000351575:p.Leu595fs					BDP1_ENST00000380675.2_5'UTR	p.L595fs	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	12	2048	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	595					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Del	DEL	ENST00000358731.4	37	c.1785delA	CCDS43328.1																																																																																				0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		39	76						39	76	---	---	---	---
PAM	5066	broad.mit.edu	37	5	102309948	102309949	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102309948_102309949insA	ENST00000438793.3	+	14	1761_1762	c.1291_1292insA	c.(1291-1293)caafs	p.Q431fs	PAM_ENST00000455264.2_Frame_Shift_Ins_p.Q431fs|PAM_ENST00000348126.2_Intron|PAM_ENST00000346918.2_Frame_Shift_Ins_p.Q431fs|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Frame_Shift_Ins_p.Q431fs|PAM_ENST00000274392.9_Frame_Shift_Ins_p.Q334fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	431	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AAATGTAGTCCAAAAAAAGGAT	0.426																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1291-1293)aaafs		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102309948_102309949insA	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1298dupA	5.37:g.102309955_102309955dupA	ENSP00000396493:p.Gln431fs					PAM_ENST00000348126.2_Intron|PAM_ENST00000274392.9_Frame_Shift_Ins_p.K334fs|PAM_ENST00000304400.7_Frame_Shift_Ins_p.K431fs|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Frame_Shift_Ins_p.K431fs|PAM_ENST00000346918.2_Frame_Shift_Ins_p.K431fs	p.K431fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	14	1761_1762	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	431			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Frame_Shift_Ins	INS	ENST00000438793.3	37	c.1291_1292insA	CCDS54885.1																																																																																				0.426	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		20	56						20	56	---	---	---	---
CCDC112	153733	broad.mit.edu	37	5	114610915	114610916	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114610915_114610916insT	ENST00000512261.1	-	7	1082_1083	c.666_667insA	c.(664-669)aaagagfs	p.E223fs	CCDC112_ENST00000503027.1_5'Flank|CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.E223fs|CCDC112_ENST00000379611.5_Frame_Shift_Ins_p.E306fs|CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.E223fs			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	223								p.E306fs*20(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATTATTACCTCTTTTTTTCTTT	0.332																																						ENST00000379611.5																			1	Deletion - Frameshift(1)	p.E306fs*20(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(913-918)aaagtcfs		coiled-coil domain containing 112																																				SO:0001589	frameshift_variant	153733							g.chr5:114610915_114610916insT	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.667dupA	5.37:g.114610922_114610922dupT	ENSP00000423712:p.Glu223fs					CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.V223fs|CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.V223fs|CCDC112_ENST00000512261.1_Frame_Shift_Ins_p.V223fs	p.V306fs	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	1202_1203	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	223					Q6A334	Frame_Shift_Ins	INS	ENST00000512261.1	37	c.915_916insA	CCDS4117.1																																																																																				0.332	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		11	29						11	29	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118500926	118500927	+	Frame_Shift_Ins	INS	-	-	T	rs376883962		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500926_118500927insT	ENST00000311085.8	+	21	5001_5002	c.4921_4922insT	c.(4921-4923)attfs	p.I1641fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.I1641fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1641										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGATGCTGCCATTTTTTACCTT	0.302																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4921-4923)tttfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118500926_118500927insT	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4927dupT	5.37:g.118500932_118500932dupT	ENSP00000309690:p.Ile1641fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.F1641fs	p.F1641fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	21	5001_5002	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1641						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.4921_4922insT	CCDS4125.1																																																																																				0.302	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		23	45						23	45	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118502316	118502316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118502316delA	ENST00000311085.8	+	22	5056	c.4976delA	c.(4975-4977)gaafs	p.E1659fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.E1659fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATAGAGCTGAAAAAAACACC	0.318																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4975-4977)gafs		Dmx-like 1							71.0	73.0	72.0					5																	118502316		2202	4300	6502	SO:0001589	frameshift_variant	1657							g.chr5:118502316delA	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4976delA	5.37:g.118502316delA	ENSP00000309690:p.Glu1659fs					DMXL1_ENST00000539542.1_Frame_Shift_Del_p.E1659fs	p.E1659fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	22	5056	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1659						Frame_Shift_Del	DEL	ENST00000311085.8	37	c.4976delA	CCDS4125.1																																																																																				0.318	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		33	54						33	54	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118506838	118506839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118506838_118506839insA	ENST00000311085.8	+	24	6432_6433	c.6352_6353insA	c.(6352-6354)gaafs	p.E2118fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.E2118fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2118										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATTTTCAGGAAAAAAGACAG	0.386																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6352-6354)aaafs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118506838_118506839insA	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6358dupA	5.37:g.118506844_118506844dupA	ENSP00000309690:p.Glu2118fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.K2118fs	p.K2118fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	24	6432_6433	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2118						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.6352_6353insA	CCDS4125.1																																																																																				0.386	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		29	63						29	63	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610311	127610311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127610311delC	ENST00000508053.1	-	66	8633	c.7659delG	c.(7657-7659)gggfs	p.G2553fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.G2553fs			P35556	FBN2_HUMAN	fibrillin 2	2553	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACAGGTAAACCCCCCCAGGG	0.423																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7659)ggfs		fibrillin 2							97.0	94.0	95.0					5																	127610311		2203	4300	6503	SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610311delC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7659delG	5.37:g.127610311delC	ENSP00000424571:p.Gly2553fs					FBN2_ENST00000262464.4_Frame_Shift_Del_p.G2553fs	p.G2553fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2553			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	c.7659delG	CCDS34222.1																																																																																				0.423	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		37	56						37	56	---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134113367	134113367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134113367delA	ENST00000354283.4	+	6	852	c.717delA	c.(715-717)gtafs	p.V239fs	DDX46_ENST00000452510.2_Frame_Shift_Del_p.V239fs			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	239					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAGGAAGTAAAAAAATTTA	0.378																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(715-717)gtfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							111.0	113.0	112.0					5																	134113367		2203	4300	6503	SO:0001589	frameshift_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134113367delA		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.717delA	5.37:g.134113367delA	ENSP00000346236:p.Val239fs					DDX46_ENST00000354283.4_Frame_Shift_Del_p.V239fs	p.V239fs	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	875	+			239					O94894|Q96EI0|Q9Y658	Frame_Shift_Del	DEL	ENST00000354283.4	37	c.717delA	CCDS34240.1																																																																																				0.378	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		36	92						36	92	---	---	---	---
SLC4A9	83697	broad.mit.edu	37	5	139742030	139742031	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139742030_139742031insT	ENST00000230993.6	+	6	827_828	c.792_793insT	c.(793-795)ttt>Tttt	p.F265fs	SLC4A9_ENST00000432095.2_Splice_Site_p.F241fs|SLC4A9_ENST00000507527.1_Splice_Site_p.F265fs|SLC4A9_ENST00000506757.2_Splice_Site_p.F241fs|SLC4A9_ENST00000506545.1_Splice_Site_p.F241fs	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	265					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTCAGGTTTTTCTGCCT	0.594																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.e6-1		solute carrier family 4, sodium bicarbonate cotransporter, member 9																																				SO:0001630	splice_region_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139742030_139742031insT	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.792-1->T	5.37:g.139742035_139742035dupT						SLC4A9_ENST00000506545.1_Splice_Site_p.SF240_splice|SLC4A9_ENST00000507527.1_Splice_Site_p.SF264_splice|SLC4A9_ENST00000432095.2_Splice_Site_p.SF240_splice|SLC4A9_ENST00000506757.2_Splice_Site_p.SF240_splice	p.SF264_splice	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	827_828	+			264					B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Splice_Site	INS	ENST00000230993.6	37	c.791_splice	CCDS58973.1																																																																																				0.594	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467	Frame_Shift_Ins	30	45						30	45	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139876355	139876356	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139876355_139876356insA	ENST00000360839.2	+	15	2650_2651	c.2496_2497insA	c.(2497-2499)aaafs	p.K833fs	ANKHD1_ENST00000297183.6_Frame_Shift_Ins_p.K833fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Ins_p.K833fs|ANKHD1_ENST00000462121.1_3'UTR	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	833						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAGAAGAAAATATTGAA	0.376																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2494-2499)aaaaatfs		ankyrin repeat and KH domain containing 1																																				SO:0001589	frameshift_variant	54882							g.chr5:139876355_139876356insA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2500dupA	5.37:g.139876359_139876359dupA	ENSP00000354085:p.Lys833fs					ANKHD1_ENST00000360839.2_Frame_Shift_Ins_p.N833fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Ins_p.N833fs|ANKHD1_ENST00000462121.1_3'UTR	p.N833fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2620_2621	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Ins	INS	ENST00000360839.2	37	c.2496_2497insA	CCDS4225.1																																																																																				0.376	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		31	77						31	77	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594043	140594044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140594043_140594044insT	ENST00000341948.4	+	1	535_536	c.348_349insT	c.(349-351)tttfs	p.F117fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCCTTCGAGTTTTTTCAAGC	0.46																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(346-351)gattttfs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594043_140594044insT	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.354dupT	5.37:g.140594049_140594049dupT	ENSP00000345491:p.Phe117fs						p.DF116fs	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	535_536	+			116			Cadherin 1.		A8K9V6	Frame_Shift_Ins	INS	ENST00000341948.4	37	c.348_349insT	CCDS4255.1																																																																																				0.460	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		8	23						8	23	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158596065	158596066	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158596065_158596066insA	ENST00000424310.2	-	8	1298		c.e8-2		RNF145_ENST00000274542.2_Splice_Site|RNF145_ENST00000521606.2_Splice_Site|RNF145_ENST00000518802.1_Splice_Site|RNF145_ENST00000519865.1_Splice_Site|RNF145_ENST00000520638.1_Splice_Site	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCAT	0.361																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.e8-2		ring finger protein 145																																				SO:0001630	splice_region_variant	153830					integral to membrane	zinc ion binding	g.chr5:158596065_158596066insA	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.939-2->T	5.37:g.158596072_158596072dupA						RNF145_ENST00000521606.2_Splice_Site|RNF145_ENST00000518802.1_Splice_Site|RNF145_ENST00000274542.2_Splice_Site|RNF145_ENST00000519865.1_Splice_Site|RNF145_ENST00000520638.1_Splice_Site		NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1298	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)						B7Z903|B7Z949|E7EVI7|Q8IVP7	Splice_Site	INS	ENST00000424310.2	37		CCDS56390.1																																																																																				0.361	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	Intron	23	92						23	92	---	---	---	---
SNORA70	26778	broad.mit.edu	37	5	170793158	170793159	+	RNA	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170793158_170793159insG	ENST00000384182.1	+	0	37_38									small nucleolar RNA, H/ACA box 70																		CCTTTCCTCATGGGGGCCCAGT	0.475																																						ENST00000384182.1																			0																																																			0							g.chr5:170793158_170793159insG	Y11164		Xq28	2013-09-05	2006-04-05	2006-04-05	ENSG00000207165	ENSG00000207165		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	10231	non-coding RNA	RNA, small nucleolar			"""RNA, U70 small nucleolar"""	RNU70		9106664, 15199136	Standard	NR_000011		Approved	U70, DXS648E	uc021raw.1				5.37:g.170793163_170793163dupG														0	37_38	+									RNA	INS	ENST00000384182.1	37																																																																																						0.475	SNORA70.9-201	NOVEL	basic	snoRNA	snoRNA		NR_000011		13	13						13	13	---	---	---	---
FOXF2	2295	broad.mit.edu	37	6	1390670	1390671	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1390670_1390671insG	ENST00000259806.1	+	1	602_603	c.488_489insG	c.(487-492)aagggcfs	p.KG163fs		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	163					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AAGCTGCCTAAGGGCCTCGGGC	0.673																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(487-489)aggfs		forkhead box F2																																				SO:0001589	frameshift_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390670_1390671insG	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.491dupG	6.37:g.1390673_1390673dupG	ENSP00000259806:p.Lys163fs						p.R163fs	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	602_603	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	163					Q5TGJ1|Q9UQ85	Frame_Shift_Ins	INS	ENST00000259806.1	37	c.488_489insG	CCDS4472.1																																																																																				0.673	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			40	56						40	56	---	---	---	---
SLC39A7	7922	broad.mit.edu	37	6	33170830	33170831	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33170830_33170831insA	ENST00000374677.3	+	6	1457_1458	c.1084_1085insA	c.(1084-1086)cacfs	p.H362fs	RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.H362fs|RXRB_ENST00000374680.3_5'Flank|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000374685.4_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	362					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGAAGTGCCCCACGAGGTCGGA	0.55																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1084-1086)cgafs		solute carrier family 39 (zinc transporter), member 7																																				SO:0001589	frameshift_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33170830_33170831insA	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1085dupA	6.37:g.33170831_33170831dupA	ENSP00000363809:p.His362fs					SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.R362fs	p.R362fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			6	1457_1458	+			362					B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Ins	INS	ENST00000374677.3	37	c.1084_1085insA	CCDS43453.1																																																																																				0.550	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		10	244						10	244	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46107506	46107507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107506_46107507insA	ENST00000321037.4	+	2	416_417	c.186_187insA	c.(187-189)aaafs	p.K63fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	63					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGAGCATGTTAAAAATGTTTT	0.356																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(184-189)gtaaaafs		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)																																				SO:0001589	frameshift_variant	22875					integral to membrane	hydrolase activity	g.chr6:46107506_46107507insA	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.191dupA	6.37:g.46107511_46107511dupA	ENSP00000318066:p.Lys63fs						p.VK62fs	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	416_417	+			62					A8K5G1|Q7L2N1	Frame_Shift_Ins	INS	ENST00000321037.4	37	c.186_187insA	CCDS34468.1																																																																																				0.356	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			28	68						28	68	---	---	---	---
DST	667	broad.mit.edu	37	6	56362694	56362695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56362694_56362695insT	ENST00000361203.3	-	76	19100_19101	c.19093_19094insA	c.(19093-19095)acafs	p.T6365fs	DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.T4062fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.T4388fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Frame_Shift_Ins_p.T4279fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.T6476fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.T6150fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.T6654fs			Q03001	DYST_HUMAN	dystonin	6365					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(19960-19962)agafs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56362694_56362695insT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19094dupA	6.37:g.56362700_56362700dupT	ENSP00000354508:p.Thr6365fs					DST_ENST00000370788.2_Frame_Shift_Ins_p.R4279fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.R6365fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.R6476fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.R4062fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.R6150fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.R4388fs|DST_ENST00000340834.4_5'UTR	p.R6654fs			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		81	19959_19960	-	Lung NSC(77;0.103)		6474					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000361203.3	37	c.19960_19961insA																																																																																					0.391	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		14	35						14	35	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74517834	74517835	+	Frame_Shift_Ins	INS	-	-	T	rs35580099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74517834_74517835insT	ENST00000287097.5	+	26	3330_3331	c.3218_3219insT	c.(3217-3222)cattttfs	p.HF1073fs	CD109_ENST00000437994.2_Frame_Shift_Ins_p.HF1073fs|CD109_ENST00000422508.2_Frame_Shift_Ins_p.HF996fs			Q6YHK3	CD109_HUMAN	CD109 molecule	1073					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCTATCCATTTTTTGGAGT	0.356																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3217-3219)cttfs		CD109 molecule																																				SO:0001589	frameshift_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74517834_74517835insT	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3224dupT	6.37:g.74517840_74517840dupT	ENSP00000287097:p.His1073fs					CD109_ENST00000422508.2_Frame_Shift_Ins_p.L996fs|CD109_ENST00000287097.5_Frame_Shift_Ins_p.L1073fs	p.L1073fs	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			26	3649_3650	+			1073					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Frame_Shift_Ins	INS	ENST00000287097.5	37	c.3218_3219insT	CCDS4982.1																																																																																				0.356	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		17	47						17	47	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87970355	87970356	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970355_87970356insA	ENST00000369577.3	+	8	7051_7052	c.7008_7009insA	c.(7009-7011)aaafs	p.K2337fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.K2332fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2337						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAAACGAAAGAAAAAAAATAA	0.366																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7006-7011)aaaaaafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970355_87970356insA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7016dupA	6.37:g.87970363_87970363dupA	ENSP00000358590:p.Lys2337fs					ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.KK2331fs	p.KK2336fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7051_7052	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2336					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	ENST00000369577.3	37	c.7008_7009insA	CCDS47457.1																																																																																				0.366	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		10	26						10	26	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587479	111587480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587479_111587480insT	ENST00000368847.4	+	4	1067_1068	c.714_715insT	c.(715-717)tttfs	p.F239fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	239					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTCTGTTCTTCTTTTTTTATGT	0.401																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(712-717)ttttttfs		KIAA1919																																				SO:0001589	frameshift_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587479_111587480insT	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.721dupT	6.37:g.111587486_111587486dupT	ENSP00000357840:p.Phe239fs						p.FF238fs	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	1067_1068	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	238					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Frame_Shift_Ins	INS	ENST00000368847.4	37	c.714_715insT	CCDS5090.1																																																																																				0.401	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		23	27						23	27	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111695487	111695488	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695487_111695488insT	ENST00000358835.3	-	14	4524_4525	c.4070_4071insA	c.(4069-4071)aatfs	p.N1357fs	REV3L_ENST00000435970.1_Frame_Shift_Ins_p.N1279fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.N1357fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1357					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTCAAATATATTTTTTTGAAT	0.307								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(3835-3837)aatfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695487_111695488insT	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4071dupA	6.37:g.111695494_111695494dupT	ENSP00000351697:p.Asn1357fs					REV3L_ENST00000368805.1_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.N1357fs	p.N1279fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	4652_4653	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1357					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.3836_3837insA	CCDS5091.2																																																																																				0.307	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		39	74						39	74	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086745	144086746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144086745_144086746insC	ENST00000427704.2	+	6	1139_1140	c.1009_1010insC	c.(1009-1011)gccfs	p.A337fs	PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.A257fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.A348fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.A325fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.A268fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	337							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCTC	0.584																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1009-1011)cccfs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086745_144086746insC	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1016dupC	6.37:g.144086752_144086752dupC	ENSP00000391763:p.Ala337fs					PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.P348fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.P268fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.P257fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.P325fs	p.P337fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1139_1140	+			337					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.1009_1010insC	CCDS47492.1																																																																																				0.584	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		18	29						18	29	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6771663	6771664	+	RNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6771663_6771664insT	ENST00000486256.1	+	0	619					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		AGGATTCCTACttttttttttc	0.416																																						ENST00000486256.1																			0																																																			0							g.chr7:6771663_6771664insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6771673_6771673dupT								NR_002217.1						0	619	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.416	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		37	42						37	42	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	TT	rs72390141|rs71539975		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6775132_6775133insTT	ENST00000486256.1	+	0	833					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGTCATGTAAGTTTTTTTTTTT	0.401																																						ENST00000486256.1																			0																																																			0							g.chr7:6775132_6775133insTT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6775141_6775142dupTT								NR_002217.1						0	833	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.401	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		5	1						5	1	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7410484	7410484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7410484delT	ENST00000399429.3	-	33	3078	c.2938delA	c.(2938-2940)attfs	p.I980fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	980	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTCACAAATTTTTTGAAAC	0.338																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2938-2940)ttfs		collagen, type XXVIII, alpha 1							57.0	53.0	54.0					7																	7410484		1802	4066	5868	SO:0001589	frameshift_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7410484delT	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2938delA	7.37:g.7410484delT	ENSP00000382356:p.Ile980fs						p.I980fs	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	33	3078	-		Ovarian(82;0.0789)	980			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Frame_Shift_Del	DEL	ENST00000399429.3	37	c.2938delA	CCDS43553.1																																																																																				0.338	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		7	88						7	88	---	---	---	---
SCIN	85477	broad.mit.edu	37	7	12668726	12668727	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12668726_12668727insT	ENST00000297029.5	+	9	1299_1300	c.1198_1199insT	c.(1198-1200)att>aTtt	p.I400fs	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_Splice_Site_p.I153fs|SCIN_ENST00000519209.1_Splice_Site_p.I153fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	400	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCCTTCCAGATTTGGCGTGTA	0.322																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.e9-1		scinderin																																				SO:0001630	splice_region_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12668726_12668727insT	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1198-1->T	7.37:g.12668729_12668729dupT						SCIN_ENST00000445618.2_Splice_Site_p.L153_splice|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Splice_Site_p.L153_splice	p.L400_splice	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	9	1299_1300	+			400			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Splice_Site	INS	ENST00000297029.5	37	c.1197_splice	CCDS47545.1																																																																																				0.322	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	Frame_Shift_Ins	12	55						12	55	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)gggfs		nucleoporin like 2				6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				SO:0001589	frameshift_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224772_23224773insG	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs					NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	p.G69fs	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			2	464_465	+			69					A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	c.205_206insG	CCDS5379.1																																																																																				0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		11	106						11	106	---	---	---	---
SFRP4	6424	broad.mit.edu	37	7	37953882	37953883	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37953882_37953883insA	ENST00000436072.2	-	3	904		c.e3-2		EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4						brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCAG	0.426																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e3-2		secreted frizzled-related protein 4																																				SO:0001630	splice_region_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37953882_37953883insA	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.527-2->T	7.37:g.37953888_37953888dupA						EPDR1_ENST00000476620.1_Intron		NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			3	904	-								B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Splice_Site	INS	ENST00000436072.2	37		CCDS5453.1																																																																																				0.426	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	Intron	29	91						29	91	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72286071	72286071	+	RNA	DEL	A	A	-	rs190457972|rs199646023	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72286071delA	ENST00000435769.2	-	0	258				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTAATAGGACAAAAAAAAACT	0.378																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							108.0	84.0	91.0					7																	72286071		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72286071delA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72286071delA										Q6NUM6	TYW1B_HUMAN			0	234	-								A6NG09|B4DFY2|Q3KQX2	RNA	DEL	ENST00000435769.2	37																																																																																						0.378	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		12	57						12	57	---	---	---	---
GTF2IP7	101927126	broad.mit.edu	37	7	75737852	75737853	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75737852_75737853insA	ENST00000434037.1	-	0	244_245																											gactccttctcaaaaaaataac	0.47																																						ENST00000434037.1																			0																																																			0							g.chr7:75737852_75737853insA																													7.37:g.75737859_75737859dupA														0	244_245	-									RNA	INS	ENST00000434037.1	37																																																																																						0.470	AC005077.12-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344843.1			7	9						7	9	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	333						7	333	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86824052	86824052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86824052delA	ENST00000394703.5	+	19	2644	c.2081delA	c.(2080-2082)gaafs	p.E694fs	TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.E624fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.E606fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.E694fs|DMTF1_ENST00000414194.2_Frame_Shift_Del_p.E428fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	694	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATTGATGATGAAACAATACTT	0.333																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(1282-1284)gafs		cyclin D binding myb-like transcription factor 1							129.0	119.0	122.0					7																	86824052		2203	4300	6503	SO:0001589	frameshift_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86824052delA	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.2081delA	7.37:g.86824052delA	ENSP00000378193:p.Glu694fs					DMTF1_ENST00000413276.2_Frame_Shift_Del_p.E624fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.E606fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.E694fs|DMTF1_ENST00000394703.5_Frame_Shift_Del_p.E694fs	p.E428fs			Q9Y222	DMTF1_HUMAN			17	3075	+	Esophageal squamous(14;0.0058)		694			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	ENST00000394703.5	37	c.1283delA	CCDS5601.1																																																																																				0.333	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		7	82						7	82	---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87526619	87526620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87526619_87526620insA	ENST00000265728.1	+	8	1149_1150	c.645_646insA	c.(646-648)aaafs	p.K216fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	216					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGGAAGACTCAAAAAGCCTTT	0.317																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(643-648)ctaaaafs		DBF4 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87526619_87526620insA	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.650dupA	7.37:g.87526624_87526624dupA	ENSP00000265728:p.Lys216fs						p.LK215fs	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			8	1149_1150	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	215					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Frame_Shift_Ins	INS	ENST00000265728.1	37	c.645_646insA	CCDS5611.1																																																																																				0.317	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		7	451						7	451	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92730919	92730919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92730919delT	ENST00000379958.2	-	3	4761	c.4492delA	c.(4492-4494)attfs	p.I1498fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1498						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACTGGTCAATTTTTCCTTTG	0.378																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4492-4494)ttfs		sterile alpha motif domain containing 9							86.0	86.0	86.0					7																	92730919		2203	4298	6501	SO:0001589	frameshift_variant	54809					cytoplasm		g.chr7:92730919delT	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4492delA	7.37:g.92730919delT	ENSP00000369292:p.Ile1498fs						p.I1498fs	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4761	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1498					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Del	DEL	ENST00000379958.2	37	c.4492delA	CCDS34680.1																																																																																				0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		13	101						13	101	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs						p.R119fs	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		12	40						12	40	---	---	---	---
GPR22	2845	broad.mit.edu	37	7	107114902	107114903	+	Frame_Shift_Ins	INS	-	-	T	rs200865278		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107114902_107114903insT	ENST00000304402.4	+	3	1740_1741	c.397_398insT	c.(397-399)gttfs	p.V133fs	COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	133					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AGCAATCAACGTTTTTGCTATC	0.391																																						ENST00000304402.4																			0				large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						c.(397-399)tttfs		G protein-coupled receptor 22																																				SO:0001589	frameshift_variant	0					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107114902_107114903insT	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.402dupT	7.37:g.107114907_107114907dupT	ENSP00000302676:p.Val133fs					COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	p.F133fs	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN			3	1740_1741	+			133					O14554	Frame_Shift_Ins	INS	ENST00000304402.4	37	c.397_398insT	CCDS5744.1																																																																																				0.391	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			92	75						92	75	---	---	---	---
TFEC	22797	broad.mit.edu	37	7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115594657delT	ENST00000265440.7	-	5	602	c.422delA	c.(421-423)aagfs	p.K141fs	TFEC_ENST00000393485.1_Frame_Shift_Del_p.K112fs|TFEC_ENST00000457268.1_Frame_Shift_Del_p.K74fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.K112fs|TFEC_ENST00000484212.1_Frame_Shift_Del_p.K231fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	141	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGGTTGTCCTTTTTTTGTCT	0.333																																						ENST00000265440.7																			1	Deletion - Frameshift(1)	p.K141fs*42(1)	large_intestine(1)	NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(421-423)agfs		transcription factor EC							155.0	149.0	151.0					7																	115594657		2202	4299	6501	SO:0001589	frameshift_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115594657delT	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.422delA	7.37:g.115594657delT	ENSP00000265440:p.Lys141fs					TFEC_ENST00000393485.1_Frame_Shift_Del_p.K112fs|TFEC_ENST00000484212.1_Frame_Shift_Del_p.K231fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.K112fs|TFEC_ENST00000457268.1_Frame_Shift_Del_p.K74fs	p.K141fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	602	-			141			Helix-loop-helix motif.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Frame_Shift_Del	DEL	ENST00000265440.7	37	c.422delA	CCDS5762.1																																																																																				0.333	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		18	82						18	82	---	---	---	---
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G	rs369058363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-495)acggggfs	p.TG164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.TG76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(490-492)aggfs		carboxypeptidase A1 (pancreatic)																																				SO:0001589	frameshift_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130023239_130023240insG		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.497dupG	7.37:g.130023245_130023245dupG	ENSP00000011292:p.Thr164fs					CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs	p.R164fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			5	641_642	+	Melanoma(18;0.0435)		164					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Frame_Shift_Ins	INS	ENST00000011292.3	37	c.491_492insG	CCDS5820.1																																																																																				0.614	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		12	44						12	44	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142561789	142561794	+	In_Frame_Del	DEL	GGCAGG	GGCAGG	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142561789_142561794delGGCAGG	ENST00000392957.2	+	7	1018_1023	c.231_236delGGCAGG	c.(229-237)gtggcaggg>gtg	p.AG78del	EPHB6_ENST00000442129.1_In_Frame_Del_p.AG78del|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	78	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CATGTCATGTGGCAGGGGCCCCTCCA	0.636																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(229-237)gtg>gt		EPH receptor B6																																				SO:0001651	inframe_deletion	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561789_142561794delGGCAGG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.231_236delGGCAGG	7.37:g.142561789_142561794delGGCAGG	ENSP00000376684:p.Ala78_Gly79del					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_In_Frame_Del_p.VAG77del	p.VAG77del	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1018_1023	+	Melanoma(164;0.059)		77					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	In_Frame_Del	DEL	ENST00000392957.2	37	c.231_236delGGCAGG	CCDS5873.2																																																																																				0.636	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	320						7	320	---	---	---	---
TAS2R41	259287	broad.mit.edu	37	7	143175406	143175407	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175406_143175407insT	ENST00000408916.1	+	1	441_442	c.441_442insT	c.(442-444)tttfs	p.F148fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	148					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L147L(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TAACCCTGCTGTTTTTTTGGGT	0.441																																						ENST00000408916.1																			1	Substitution - coding silent(1)	p.L147L(1)	endometrium(1)	endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(439-444)ctttttfs		taste receptor, type 2, member 41																																				SO:0001589	frameshift_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175406_143175407insT	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.448dupT	7.37:g.143175413_143175413dupT	ENSP00000386201:p.Phe148fs					EPHA1-AS1_ENST00000429289.1_RNA	p.LF147fs	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	441_442	+	Melanoma(164;0.15)		147					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Frame_Shift_Ins	INS	ENST00000408916.1	37	c.441_442insT	CCDS43663.1																																																																																				0.441	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			20	56						20	56	---	---	---	---
OR2A7	401427	broad.mit.edu	37	7	143956719	143956720	+	Start_Codon_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143956719_143956720insA	ENST00000493325.1	-	0	95_96				ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TATTGTCCCCCATATCCCTATG	0.436																																						ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6								olfactory receptor, family 2, subfamily A, member 7																																				SO:0001582	initiator_codon_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956719_143956720insA		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.3dupT	7.37:g.143956720_143956720dupA						RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA		NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			0	95_96	-	Melanoma(164;0.14)							B2RN57|Q6IFP4	Translation_Start_Site	INS	ENST00000493325.1	37		CCDS55177.1																																																																																				0.436	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			9	435						9	435	---	---	---	---
NAT1	9	broad.mit.edu	37	8	18080414	18080415	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18080414_18080415insT	ENST00000517492.1	+	3	1496_1497	c.858_859insT	c.(859-861)tttfs	p.F287fs	NAT1_ENST00000539092.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000541942.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.F349fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.F287fs			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATGGTGATAGATTTTTTACTAT	0.342																																						ENST00000539092.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9						c.(856-861)agttttfs		N-acetyltransferase 1 (arylamine N-acetyltransferase)																																				SO:0001589	frameshift_variant	9				xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18080414_18080415insT	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.864dupT	8.37:g.18080420_18080420dupT	ENSP00000429407:p.Phe287fs					NAT1_ENST00000517492.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000541942.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.SF348fs|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.SF286fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.SF286fs	p.SF286fs	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN		Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)	5	1549_1550	+			286					C9JWA6|Q86SY5	Frame_Shift_Ins	INS	ENST00000517492.1	37	c.858_859insT	CCDS6007.1																																																																																				0.342	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1	NM_000662		30	39						30	39	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41122976	41122977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41122976_41122977insT	ENST00000220772.3	-	3	991_992	c.654_655insA	c.(652-657)aaagaafs	p.E219fs	SFRP1_ENST00000379845.3_Frame_Shift_Ins_p.E83fs	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	219	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCGCCATTTTCTTTTTTCACTT	0.421																																						ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(652-657)aaaaaafs		secreted frizzled-related protein 1																																				SO:0001589	frameshift_variant	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41122976_41122977insT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.655dupA	8.37:g.41122982_41122982dupT	ENSP00000220772:p.Glu219fs					SFRP1_ENST00000379845.3_Frame_Shift_Ins_p.KK82fs	p.KK218fs	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		3	991_992	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	218			NTR.		O00546|O14779	Frame_Shift_Ins	INS	ENST00000220772.3	37	c.654_655insA	CCDS34886.1																																																																																				0.421	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		18	36						18	36	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43152139	43152140	+	RNA	INS	-	-	A	rs200753769		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43152139_43152140insA	ENST00000522175.2	+	0	301							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACAATTTCCTAAAAAAGTCTC	0.381																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A																																						340441							g.chr8:43152139_43152140insA	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152145_43152145dupA										Q6S8J7	POTEA_HUMAN			0	301	+								A6ND17|A6ND71|Q6S8J6	RNA	INS	ENST00000522175.2	37																																																																																						0.381	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		27	53						27	53	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68995502	68995503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68995502_68995503insT	ENST00000288368.4	+	18	2183_2184	c.1906_1907insT	c.(1906-1908)attfs	p.I636fs	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	636	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGGGAAAAAGATTTTTGCTATT	0.317																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1906-1908)tttfs		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2																																				SO:0001589	frameshift_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68995502_68995503insT	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1911dupT	8.37:g.68995507_68995507dupT	ENSP00000288368:p.Ile636fs					RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	p.F636fs	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			18	2183_2184	+			636			PDZ 1.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Frame_Shift_Ins	INS	ENST00000288368.4	37	c.1906_1907insT	CCDS6201.1																																																																																				0.317	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		29	62						29	62	---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119593026	119593027	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119593026_119593027insT	ENST00000314727.4	-	2	255_256	c.119_120insA	c.(118-120)aatfs	p.N40fs	SAMD12_ENST00000409003.4_Frame_Shift_Ins_p.N40fs	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	40										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGAAATTTTTATTTTTAATGGA	0.45																																						ENST00000409003.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(118-120)aaafs		sterile alpha motif domain containing 12																																				SO:0001589	frameshift_variant	401474							g.chr8:119593026_119593027insT	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.120dupA	8.37:g.119593031_119593031dupT	ENSP00000314173:p.Asn40fs					SAMD12_ENST00000314727.4_Frame_Shift_Ins_p.K40fs	p.K40fs	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		2	247_248	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		40					Q0P502	Frame_Shift_Ins	INS	ENST00000314727.4	37	c.119_120insA	CCDS6325.1																																																																																				0.450	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		26	55						26	55	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126073352	126073353	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126073352_126073353insT	ENST00000318410.7	-	12	1841_1842	c.1492_1493insA	c.(1492-1494)actfs	p.T498fs	KIAA0196_ENST00000517845.1_Frame_Shift_Ins_p.T350fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	498					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGTTGTACAGTTTTTCTGCCC	0.376																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(1492-1494)tgtfs		KIAA0196																																				SO:0001589	frameshift_variant	9897				cell death	WASH complex		g.chr8:126073352_126073353insT		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1493dupA	8.37:g.126073357_126073357dupT	ENSP00000318016:p.Thr498fs					KIAA0196_ENST00000517845.1_Frame_Shift_Ins_p.C350fs	p.C498fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		12	1841_1842	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		498					A8K4R7|Q3KQX5|Q8TBQ2	Frame_Shift_Ins	INS	ENST00000318410.7	37	c.1492_1493insA	CCDS6355.1																																																																																				0.376	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		10	34						10	34	---	---	---	---
C9orf72	203228	broad.mit.edu	37	9	27548406	27548406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27548406delT	ENST00000380003.3	-	11	1337	c.1274delA	c.(1273-1275)aagfs	p.K425fs	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	425					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TTTAAAGGGCTTTTTTCCCTT	0.318																																						ENST00000380003.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(1273-1275)agfs		chromosome 9 open reading frame 72							76.0	74.0	75.0					9																	27548406		2201	4300	6501	SO:0001589	frameshift_variant	203228							g.chr9:27548406delT	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1274delA	9.37:g.27548406delT	ENSP00000369339:p.Lys425fs					C9orf72_ENST00000488117.1_5'UTR	p.K425fs	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	11	1337	-		all_neural(11;7.57e-10)	425					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Frame_Shift_Del	DEL	ENST00000380003.3	37	c.1274delA	CCDS6522.1																																																																																				0.318	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		26	39						26	39	---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72962005	72962006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72962005_72962006insT	ENST00000361138.5	+	20	2650_2651	c.2592_2593insT	c.(2593-2595)ttgfs	p.L865fs	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	865					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCCAAACACATTGGATGAAAT	0.356																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(2590-2595)actggafs		structural maintenance of chromosomes 5																																				SO:0001589	frameshift_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72962005_72962006insT	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2594dupT	9.37:g.72962007_72962007dupT	ENSP00000354957:p.Leu865fs					SMC5_ENST00000471372.1_3'UTR	p.G865fs	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			20	2650_2651	+			865					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Frame_Shift_Ins	INS	ENST00000361138.5	37	c.2592_2593insT	CCDS6632.1																																																																																				0.356	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		7	50						7	50	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77386687	77386687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77386687delT	ENST00000360774.1	-	25	3705	c.3468delA	c.(3466-3468)aaafs	p.K1156fs	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Frame_Shift_Del_p.K1156fs|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000449912.2_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Del_p.K1156fs	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1156					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATGGAAGTATTTTTCCACGC	0.353																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3466-3468)aafs		transient receptor potential cation channel, subfamily M, member 6							118.0	107.0	111.0					9																	77386687		2203	4300	6503	SO:0001589	frameshift_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77386687delT	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3468delA	9.37:g.77386687delT	ENSP00000354006:p.Lys1156fs					TRPM6_ENST00000449912.2_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000376864.4_Frame_Shift_Del_p.K1156fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000360774.1_Frame_Shift_Del_p.K1156fs	p.K1156fs			Q9BX84	TRPM6_HUMAN			25	3705	-			1156					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Frame_Shift_Del	DEL	ENST00000360774.1	37	c.3468delA	CCDS6647.1																																																																																				0.353	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		14	81						14	81	---	---	---	---
C9orf156	51531	broad.mit.edu	37	9	100667245	100667246	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100667245_100667246insA	ENST00000375119.3	-	5	1171_1172	c.1095_1096insT	c.(1093-1098)tttcagfs	p.Q366fs		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	366					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTGCTGACTGAAAATATTTAA	0.436																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(1093-1098)ttagtcfs		chromosome 9 open reading frame 156																																				SO:0001589	frameshift_variant	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100667245_100667246insA	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.1096dupT	9.37:g.100667249_100667249dupA	ENSP00000364260:p.Gln366fs						p.LV365fs	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			5	1171_1172	-		Acute lymphoblastic leukemia(62;0.158)	365					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Frame_Shift_Ins	INS	ENST00000375119.3	37	c.1095_1096insT	CCDS6730.1																																																																																				0.436	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		28	59						28	59	---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114456636	114456636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114456636delT	ENST00000318737.4	-	23	3126	c.2998delA	c.(2998-3000)attfs	p.I1000fs	C9orf84_ENST00000394779.3_Frame_Shift_Del_p.I961fs|C9orf84_ENST00000394777.4_Frame_Shift_Del_p.I926fs|C9orf84_ENST00000374287.3_Frame_Shift_Del_p.I1000fs	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1000										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGGGGCAATTATAAGCTAA	0.294																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2881-2883)ttfs		chromosome 9 open reading frame 84							145.0	160.0	155.0					9																	114456636		2203	4300	6503	SO:0001589	frameshift_variant	158401							g.chr9:114456636delT	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2998delA	9.37:g.114456636delT	ENSP00000322108:p.Ile1000fs					C9orf84_ENST00000318737.4_Frame_Shift_Del_p.I1000fs|C9orf84_ENST00000374287.3_Frame_Shift_Del_p.I1000fs|C9orf84_ENST00000394777.4_Frame_Shift_Del_p.I926fs	p.I961fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			21	3125	-			1000					A2A2V3|Q2M1H8|Q96M73	Frame_Shift_Del	DEL	ENST00000318737.4	37	c.2881delA	CCDS6781.3																																																																																				0.294	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		30	308						30	308	---	---	---	---
C9orf114	51490	broad.mit.edu	37	9	131591120	131591120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131591120delT	ENST00000361256.5	-	3	142	c.102delA	c.(100-102)aaafs	p.K34fs		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	34							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GATCCTTCCATTTTTTTTTCT	0.527																																						ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.(100-102)aafs		chromosome 9 open reading frame 114							113.0	119.0	117.0					9																	131591120		2203	4300	6503	SO:0001589	frameshift_variant	51490							g.chr9:131591120delT		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.102delA	9.37:g.131591120delT	ENSP00000354812:p.Lys34fs						p.K34fs	NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			3	142	-			34					Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Frame_Shift_Del	DEL	ENST00000361256.5	37	c.102delA	CCDS6913.1																																																																																				0.527	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		66	111						66	111	---	---	---	---
KIN	22944	broad.mit.edu	37	10	7817764	7817765	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7817764_7817765insA	ENST00000379562.4	-	6	606		c.e6-2		KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000535925.1_Splice_Site	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.e6-2		KIN, antigenic determinant of recA protein homolog (mouse)																																				SO:0001630	splice_region_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7817764_7817765insA	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.559-2->T	10.37:g.7817772_7817772dupA						KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000535925.1_Splice_Site				O60870	KIN17_HUMAN			6	606	-									Splice_Site	INS	ENST00000379562.4	37		CCDS7080.1																																																																																				0.317	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	Intron	12	25						12	25	---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72637079	72637080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72637079_72637080insA	ENST00000373202.3	+	15	1894_1895	c.1694_1695insA	c.(1693-1698)ccaaaafs	p.PK565fs		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	565					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						AATGGTTCTCCAAAACCCCACT	0.5																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(1693-1695)caafs		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72637079_72637080insA	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1698dupA	10.37:g.72637083_72637083dupA	ENSP00000362298:p.Pro565fs						p.Q565fs	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			15	1894_1895	+			565					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Frame_Shift_Ins	INS	ENST00000373202.3	37	c.1694_1695insA	CCDS31216.1																																																																																				0.500	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		8	59						8	59	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75609093	75609094	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75609093_75609094insA	ENST00000351293.3	-	6	399		c.e6-2		RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000322635.3_Splice_Site|CAMK2G_ENST00000472912.1_Splice_Site|CAMK2G_ENST00000322680.3_Splice_Site|CAMK2G_ENST00000305762.7_Splice_Site|CAMK2G_ENST00000372765.1_Splice_Site|CAMK2G_ENST00000394762.2_Splice_Site|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000423381.1_Splice_Site	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	ATACAGTGGCTAAAAAAGCAGA	0.515											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000423381.1																			0				kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15						c.e6-2		calcium/calmodulin-dependent protein kinase II gamma																																				SO:0001630	splice_region_variant	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75609093_75609094insA	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.342-2->T	10.37:g.75609099_75609099dupA			OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1161	CAMK2G_ENST00000351293.3_Splice_Site|CAMK2G_ENST00000322635.3_Splice_Site|CAMK2G_ENST00000322680.3_Splice_Site|CAMK2G_ENST00000394762.2_Splice_Site|CAMK2G_ENST00000372765.1_Splice_Site|CAMK2G_ENST00000305762.7_Splice_Site|CAMK2G_ENST00000472912.1_Splice_Site|CAMK2G_ENST00000444854.2_Intron		NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN			6	465	-	Prostate(51;0.0112)							O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Splice_Site	INS	ENST00000351293.3	37		CCDS7336.1																																																																																				0.515	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169	Intron	12	22						12	22	---	---	---	---
RP11-399K21.11	0	broad.mit.edu	37	10	77142072	77142073	+	lincRNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77142072_77142073insA	ENST00000418818.2	-	0	142																											CCTTACTAAGGAAAAAATGGGA	0.342																																						ENST00000418818.2																			0																																																			0							g.chr10:77142072_77142073insA																													10.37:g.77142078_77142078dupA														0	142	-									RNA	INS	ENST00000418818.2	37																																																																																						0.342	RP11-399K21.11-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000048822.2			8	19						8	19	---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96317912	96317912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96317912delA	ENST00000348459.5	+	4	398	c.293delA	c.(292-294)gaafs	p.E98fs	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.E98fs|HELLS_ENST00000462057.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAGAAGAAAGAAAAATTGGAG	0.269																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(292-294)gafs		helicase, lymphoid-specific							48.0	61.0	57.0					10																	96317912		2195	4285	6480	SO:0001589	frameshift_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96317912delA	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.293delA	10.37:g.96317912delA	ENSP00000239027:p.Glu98fs					HELLS_ENST00000394045.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.E98fs	p.E98fs	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	4	398	+		Colorectal(252;0.0429)	98						Frame_Shift_Del	DEL	ENST00000348459.5	37	c.293delA	CCDS7434.1																																																																																				0.269	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		24	57						24	57	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97917704	97917704	+	RNA	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917704delA	ENST00000534948.1	+	0	2482							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATATGCTTCAAACAATGGAT	0.323																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							86.0	88.0	88.0					10																	97917704		1854	4096	5950			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917704delA	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917704delA										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2482	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	DEL	ENST00000534948.1	37																																																																																						0.323	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		10	105						10	105	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103292718	103292718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103292718delA	ENST00000370187.3	+	9	1106	c.988delA	c.(988-990)aaafs	p.K330fs	BTRC_ENST00000393441.4_Frame_Shift_Del_p.K289fs|BTRC_ENST00000408038.2_Frame_Shift_Del_p.K294fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GATCTGGGATAAAAACACATT	0.438																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(988-990)aafs		beta-transducin repeat containing E3 ubiquitin protein ligase							164.0	139.0	148.0					10																	103292718		2203	4300	6503	SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103292718delA	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.988delA	10.37:g.103292718delA	ENSP00000359206:p.Lys330fs					BTRC_ENST00000408038.2_Frame_Shift_Del_p.K294fs|BTRC_ENST00000393441.4_Frame_Shift_Del_p.K289fs	p.K330fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	9	1106	+		Colorectal(252;0.234)	330					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Del	DEL	ENST00000370187.3	37	c.988delA	CCDS7512.1																																																																																				0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		8	112						8	112	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17429002	17429003	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17429002_17429003insA	ENST00000389817.3	-	24	2889		c.e24-2		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GACAGTCTCCTAAAAGACAGAT	0.52																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e24-2		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)																																			SO:0001630	splice_region_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17429002_17429003insA	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2821-2->T	11.37:g.17429006_17429006dupA						ABCC8_ENST00000389817.3_Splice_Site		NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	24	2949	-								A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	INS	ENST00000389817.3	37		CCDS31437.1																																																																																				0.520	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Intron	27	40						27	40	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283608	+	RNA	DEL	AAA	AAA	-	rs377012965		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43283606_43283608delAAA	ENST00000511537.1	-	0	1327_1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAAAA	0.389																																						ENST00000511537.1																			0																																																			0							g.chr11:43283606_43283608delAAA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283615_43283617delAAA								NR_033868.1						0	1327_1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.389	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		2	4						2	4	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67074909	67074910	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67074909_67074910insA	ENST00000308127.4	+	6	780		c.e6+2		SSH3_ENST00000308298.7_Splice_Site|SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000532181.1_Splice_Site	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3						protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCATGTGGTAAGGACAGAGA	0.619																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e6+2		slingshot protein phosphatase 3																																				SO:0001630	splice_region_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67074909_67074910insA	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.602+2->A	11.37:g.67074911_67074911dupA						SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000308298.7_Splice_Site|SSH3_ENST00000532181.1_Splice_Site		NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		6	780	+								Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Splice_Site	INS	ENST00000308127.4	37		CCDS8157.1																																																																																				0.619	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276	Intron	9	19						9	19	---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67267648	67267649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267648_67267649insG	ENST00000534749.1	-	5	1072_1073	c.884_885insC	c.(883-885)ccafs	p.P295fs	PITPNM1_ENST00000356404.3_Frame_Shift_Ins_p.P295fs|PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.P295fs			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	295					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCTC	0.693																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(883-885)cggfs		phosphatidylinositol transfer protein, membrane-associated 1																																				SO:0001589	frameshift_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267648_67267649insG	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.885dupC	11.37:g.67267655_67267655dupG	ENSP00000437286:p.Pro295fs					PITPNM1_ENST00000534749.1_Frame_Shift_Ins_p.R295fs|PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.R295fs	p.R295fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			6	1109_1110	-			295					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Frame_Shift_Ins	INS	ENST00000534749.1	37	c.884_885insC	CCDS31620.1																																																																																				0.693	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		16	52						16	52	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412163	77412164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412163_77412164insT	ENST00000308488.6	-	6	2412_2413	c.2110_2111insA	c.(2110-2112)agcfs	p.S704fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S673fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S452fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	704					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTGAATTTGCTTTTTTGCATA	0.406																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2110-2112)caafs		remodeling and spacing factor 1																																				SO:0001589	frameshift_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412163_77412164insT	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2111dupA	11.37:g.77412169_77412169dupT	ENSP00000311513:p.Ser704fs					RSF1_ENST00000480887.1_Frame_Shift_Ins_p.Q452fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.Q673fs	p.Q704fs			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2412_2413	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		704					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Ins	INS	ENST00000308488.6	37	c.2110_2111insA	CCDS8253.1																																																																																				0.406	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		47	74						47	74	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92917608	92917609	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92917608_92917609insT	ENST00000326402.4	-	3	387_388	c.257_258insA	c.(256-258)aatfs	p.N86fs	SLC36A4_ENST00000529184.1_De_novo_Start_InFrame	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	86					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTATGCCTGCATTTTTTATTGC	0.351																																						ENST00000529184.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25								solute carrier family 36 (proton/amino acid symporter), member 4																																				SO:0001589	frameshift_variant	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92917608_92917609insT	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.258dupA	11.37:g.92917614_92917614dupT	ENSP00000317382:p.Asn86fs					SLC36A4_ENST00000326402.4_Frame_Shift_Ins_p.S86fs				Q6YBV0	S36A4_HUMAN			0	465_466	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)						Q86X30|Q8IVM5|Q8N8S6	Translation_Start_Site	INS	ENST00000326402.4	37		CCDS8291.1																																																																																				0.351	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			111	144						111	144	---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95582927	95582928	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95582927_95582928insT	ENST00000346299.5	-	9	1243_1244	c.903_904insA	c.(901-906)aaatacfs	p.Y302fs	MTMR2_ENST00000409459.1_Frame_Shift_Ins_p.Y230fs|MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Frame_Shift_Ins_p.Y230fs|MTMR2_ENST00000352297.7_Frame_Shift_Ins_p.Y230fs	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	302	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTGAAGGTATTTTTCATCTT	0.441																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(685-690)aaacctfs		myotubularin related protein 2																																				SO:0001589	frameshift_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95582927_95582928insT	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.904dupA	11.37:g.95582932_95582932dupT	ENSP00000345752:p.Tyr302fs					MTMR2_ENST00000346299.5_Frame_Shift_Ins_p.P302fs|MTMR2_ENST00000352297.7_Frame_Shift_Ins_p.P230fs|MTMR2_ENST00000409459.1_Frame_Shift_Ins_p.P230fs	p.P230fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			11	1349_1350	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	302			Myotubularin phosphatase.		A6NN98|Q9UPS9	Frame_Shift_Ins	INS	ENST00000346299.5	37	c.687_688insA	CCDS8305.1																																																																																				0.441	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		77	130						77	130	---	---	---	---
C11orf70	85016	broad.mit.edu	37	11	101937226	101937227	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937226_101937227insA	ENST00000434758.2	+	4	307_308	c.279_280insA	c.(280-282)aaafs	p.K94fs	C11orf70_ENST00000534360.1_Intron|C11orf70_ENST00000526781.1_Frame_Shift_Ins_p.K94fs	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	94										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GAACTGAAGTGAAAAAAATTGA	0.287																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(277-282)gtaaaafs		chromosome 11 open reading frame 70																																				SO:0001589	frameshift_variant	85016							g.chr11:101937226_101937227insA	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.286dupA	11.37:g.101937233_101937233dupA	ENSP00000414390:p.Lys94fs					C11orf70_ENST00000526781.1_Frame_Shift_Ins_p.VK93fs|C11orf70_ENST00000534360.1_Intron	p.VK93fs	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	4	307_308	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	93					E9PJU1	Frame_Shift_Ins	INS	ENST00000434758.2	37	c.279_280insA	CCDS8313.2																																																																																				0.287	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		30	36						30	36	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102736573	102736574	+	RNA	INS	-	-	T	rs372727518		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736573_102736574insT	ENST00000532855.1	-	0	1233_1234							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGCTGCATCAATTTTTTTCACA	0.366																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102736573_102736574insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736580_102736580dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1233_1234	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.366	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		10	25						10	25	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103039600	103039600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103039600delA	ENST00000375735.2	+	32	5023	c.4879delA	c.(4879-4881)aaafs	p.K1628fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.K1628fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1628	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGGGCTTGGAAAAAACAACT	0.323																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(4879-4881)aafs		dynein, cytoplasmic 2, heavy chain 1							93.0	91.0	92.0					11																	103039600		1822	4083	5905	SO:0001589	frameshift_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103039600delA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4879delA	11.37:g.103039600delA	ENSP00000364887:p.Lys1628fs					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.K1628fs	p.K1628fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	32	5023	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1628			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	ENST00000375735.2	37	c.4879delA	CCDS53701.1																																																																																				0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	42						7	42	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104874010	104874011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104874010_104874011insT	ENST00000260315.3	-	4	532_533	c.533_534insA	c.(532-534)aatfs	p.N178fs	CASP5_ENST00000531367.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000418434.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000393141.2_Frame_Shift_Ins_p.N191fs|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.N191fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.N120fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	178					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(571-573)acafs		caspase 5, apoptosis-related cysteine peptidase																																				SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104874010_104874011insT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.534dupA	11.37:g.104874018_104874018dupT	ENSP00000260315:p.Asn178fs					CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T191fs|CASP5_ENST00000418434.1_Frame_Shift_Ins_p.T36fs|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T120fs|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.T178fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.T36fs	p.T191fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	4	603_604	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	178					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS	ENST00000260315.3	37	c.572_573insA	CCDS8328.2																																																																																				0.401	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		25	130						25	130	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107965657	107965658	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965657_107965658insA	ENST00000393094.2	+	15	2302_2303	c.1686_1687insA	c.(1687-1689)aaafs	p.K563fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	563					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATCA	0.371																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1684-1689)taaaaafs		cullin 5																																				SO:0001589	frameshift_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107965657_107965658insA	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1694dupA	11.37:g.107965665_107965665dupA	ENSP00000376808:p.Lys563fs						p.*K562fs	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	15	2302_2303	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	562					A8K960|O14766|Q9BZC6	Frame_Shift_Ins	INS	ENST00000393094.2	37	c.1686_1687insA	CCDS31668.1																																																																																				0.371	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			41	49						41	49	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108409862	108409862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108409862delT	ENST00000265843.4	-	3	442	c.332delA	c.(331-333)aagfs	p.K111fs	EXPH5_ENST00000428840.1_Frame_Shift_Del_p.K35fs|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.K104fs|EXPH5_ENST00000443411.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	111					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGTGTCGGCTTTTTTTGATT	0.348																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(331-333)agfs		exophilin 5							114.0	124.0	120.0					11																	108409862		2201	4298	6499	SO:0001589	frameshift_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108409862delT		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.332delA	11.37:g.108409862delT	ENSP00000265843:p.Lys111fs					EXPH5_ENST00000525344.1_Frame_Shift_Del_p.K104fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.K35fs	p.K111fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	3	442	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	111					Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	37	c.332delA	CCDS8341.1																																																																																				0.348	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		7	127						7	127	---	---	---	---
LAYN	143903	broad.mit.edu	37	11	111425990	111425991	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111425990_111425991insA	ENST00000375615.3	+	6	842_843	c.657_658insA	c.(658-660)aaafs	p.K220fs	LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000436913.2_Frame_Shift_Ins_p.K67fs|LAYN_ENST00000525126.1_Frame_Shift_Ins_p.K220fs|LAYN_ENST00000533265.1_Frame_Shift_Ins_p.K212fs|LAYN_ENST00000375614.2_Frame_Shift_Ins_p.K212fs	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	220						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.T214fs*10(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	AAGAAGATGCCAAAAAAACATT	0.406																																					Ovarian(17;551 586 12136 22082 22900)	ENST00000436913.2																			1	Deletion - Frameshift(1)	p.T214fs*10(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14						c.(196-201)gcaaaafs		layilin																																				SO:0001589	frameshift_variant	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111425990_111425991insA		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.664dupA	11.37:g.111425997_111425997dupA	ENSP00000364765:p.Lys220fs					LAYN_ENST00000375615.3_Frame_Shift_Ins_p.AK219fs|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375614.2_Frame_Shift_Ins_p.AK211fs|LAYN_ENST00000533265.1_Frame_Shift_Ins_p.AK211fs|LAYN_ENST00000525126.1_Frame_Shift_Ins_p.AK219fs	p.AK66fs	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	4	599_600	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	219		E -> K (in dbSNP:rs11827718).	C-type lectin.		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Frame_Shift_Ins	INS	ENST00000375615.3	37	c.198_199insA	CCDS58178.1																																																																																				0.406	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		25	35						25	35	---	---	---	---
MCAM	4162	broad.mit.edu	37	11	119182354	119182355	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119182354_119182355insG	ENST00000264036.4	-	11	1306_1307	c.1292_1293insC	c.(1291-1293)cctfs	p.P431fs	MCAM_ENST00000392814.1_Frame_Shift_Ins_p.P380fs	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	431	Ig-like C2-type 3.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGCCATCCAAGGGGGGCCTTG	0.609																																						ENST00000392814.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1138-1140)ctgfs		melanoma cell adhesion molecule																																				SO:0001589	frameshift_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182354_119182355insG	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1293dupC	11.37:g.119182360_119182360dupG	ENSP00000264036:p.Pro431fs					MCAM_ENST00000264036.4_Frame_Shift_Ins_p.L431fs	p.L380fs			P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	6	1868_1869	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	431			Ig-like C2-type 2.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Frame_Shift_Ins	INS	ENST00000264036.4	37	c.1139_1140insC	CCDS31690.1																																																																																				0.609	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			46	54						46	54	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122775123	122775123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122775123delA	ENST00000531316.1	+	2	927	c.835delA	c.(835-837)aaafs	p.K280fs	C11orf63_ENST00000227349.2_Frame_Shift_Del_p.K280fs|C11orf63_ENST00000307257.6_Frame_Shift_Del_p.K280fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	280					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACTTCACAATAAAAAAAGAGG	0.403																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(835-837)aafs		chromosome 11 open reading frame 63							130.0	147.0	141.0					11																	122775123		2202	4299	6501	SO:0001589	frameshift_variant	79864							g.chr11:122775123delA	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.835delA	11.37:g.122775123delA	ENSP00000431669:p.Lys280fs					C11orf63_ENST00000531316.1_Frame_Shift_Del_p.K280fs|C11orf63_ENST00000307257.6_Frame_Shift_Del_p.K280fs	p.K280fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	1132	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	280					A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Del	DEL	ENST00000531316.1	37	c.835delA	CCDS8438.1																																																																																				0.403	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		26	325						26	325	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440612	124440613	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124440612_124440613insT	ENST00000284287.3	+	1	720_721	c.648_649insT	c.(649-651)tttfs	p.F217fs		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	217					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGACAGTCTTCTTTTCGGCTGG	0.48																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(646-651)tttttcfs		olfactory receptor, family 8, subfamily A, member 1																																				SO:0001589	frameshift_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440612_124440613insT	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.652dupT	11.37:g.124440616_124440616dupT	ENSP00000284287:p.Phe217fs						p.FF216fs	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	720_721	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	216					Q6IEW7|Q96RC6	Frame_Shift_Ins	INS	ENST00000284287.3	37	c.648_649insT	CCDS31712.1																																																																																				0.480	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		32	54						32	54	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126137106	126137107	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126137106_126137107insT	ENST00000332118.6	-	4	643_644	c.489_490insA	c.(487-492)aaagcafs	p.A164fs	FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Ins_p.A136fs|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	164					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTATTCTTTGCTTTTTCCTTGG	0.45																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(487-492)aacaaafs		signal recognition particle receptor (docking protein)																																				SO:0001589	frameshift_variant	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137106_126137107insT	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.490dupA	11.37:g.126137111_126137111dupT	ENSP00000328023:p.Ala164fs					SRPR_ENST00000532259.1_Frame_Shift_Ins_p.NK135fs	p.NK163fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	4	643_644	-	all_hematologic(175;0.145)		163					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Ins	INS	ENST00000332118.6	37	c.489_490insA	CCDS31717.1																																																																																				0.450	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		17	276						17	276	---	---	---	---
KLRC1	3821	broad.mit.edu	37	12	10603615	10603615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10603615delT	ENST00000359151.3	-	2	322	c.141delA	c.(139-141)aaafs	p.K47fs	KLRC1_ENST00000347831.5_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000536188.1_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000544822.1_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000408006.3_Frame_Shift_Del_p.K47fs	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	47					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CCTGAGAAGCTTTTTGAAGGT	0.393																																						ENST00000544822.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(139-141)aafs		killer cell lectin-like receptor subfamily C, member 1							177.0	179.0	178.0					12																	10603615		2202	4300	6502	SO:0001589	frameshift_variant	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10603615delT	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.141delA	12.37:g.10603615delT	ENSP00000352064:p.Lys47fs					KLRC1_ENST00000408006.3_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000359151.3_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000347831.5_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000536188.1_Frame_Shift_Del_p.K47fs	p.K47fs	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN			3	528	-			47						Frame_Shift_Del	DEL	ENST00000359151.3	37	c.141delA	CCDS8625.1																																																																																				0.393	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		45	129						45	129	---	---	---	---
TAS2R10	50839	broad.mit.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)ttafs	p.L196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(586-588)tatfs		taste receptor, type 2, member 10																																				SO:0001589	frameshift_variant	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978281_10978282insA	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.588dupT	12.37:g.10978288_10978288dupA	ENSP00000240619:p.Leu196fs						p.Y196fs	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	675_676	-			196					Q3MIM9|Q6NTD9	Frame_Shift_Ins	INS	ENST00000240619.2	37	c.587_588insT	CCDS8634.1																																																																																				0.347	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			43	88						43	88	---	---	---	---
PLCZ1	89869	broad.mit.edu	37	12	18841024	18841025	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18841024_18841025insT	ENST00000538330.1	-	9	1316_1317	c.935_936insA	c.(934-936)aat>aaAt	p.N312fs	PLCZ1_ENST00000541695.1_Splice_Site_p.N393fs|PLCZ1_ENST00000266505.7_Splice_Site_p.N530fs|PLCZ1_ENST00000447925.2_Splice_Site_p.N528fs|PLCZ1_ENST00000534932.1_Splice_Site_p.N11fs|PLCZ1_ENST00000539875.1_Splice_Site_p.N337fs|PLCZ1_ENST00000435379.1_Splice_Site_p.N335fs					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAGCTCACCATTTTTTTTAAT	0.292																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.e13+1		phospholipase C, zeta 1																																				SO:0001630	splice_region_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18841024_18841025insT	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.937+1->A	12.37:g.18841032_18841032dupT						PLCZ1_ENST00000539875.1_Splice_Site_p.S337_splice|PLCZ1_ENST00000534932.1_Splice_Site_p.S11_splice|PLCZ1_ENST00000266505.7_Splice_Site_p.S530_splice|PLCZ1_ENST00000541695.1_Splice_Site_p.R393_splice|PLCZ1_ENST00000435379.1_Splice_Site_p.S335_splice|PLCZ1_ENST00000538330.1_Splice_Site_p.S312_splice	p.S528_splice	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			13	1852_1853	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		530			C2.			Splice_Site	INS	ENST00000538330.1	37	c.1585_splice																																																																																					0.292	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123	Frame_Shift_Ins	9	98						9	98	---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25255145	25255146	+	Frame_Shift_Ins	INS	-	-	A	rs377202548		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25255145_25255146insA	ENST00000354454.3	+	16	1732_1733	c.903_904insA	c.(904-906)aaafs	p.K302fs	LRMP_ENST00000548766.1_Frame_Shift_Ins_p.K302fs|LRMP_ENST00000547044.1_Frame_Shift_Ins_p.K302fs|RP11-713N11.4_ENST00000555862.1_RNA	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	358					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACTGCCAAATTAAAAAACGTTC	0.297																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(901-906)ataaaafs		lymphoid-restricted membrane protein																																				SO:0001589	frameshift_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25255145_25255146insA		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.909dupA	12.37:g.25255151_25255151dupA	ENSP00000346442:p.Lys302fs					LRMP_ENST00000548766.1_Frame_Shift_Ins_p.IK301fs|LRMP_ENST00000547044.1_Frame_Shift_Ins_p.IK301fs	p.IK301fs	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			16	1732_1733	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		357					A0AVM2|B4E077|Q8N301	Frame_Shift_Ins	INS	ENST00000354454.3	37	c.903_904insA	CCDS8701.1																																																																																				0.297	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		18	27						18	27	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44139908	44139909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44139908_44139909insT	ENST00000416848.2	-	4	1691_1692	c.1203_1204insA	c.(1201-1206)aaacaafs	p.Q402fs	PUS7L_ENST00000551923.1_Frame_Shift_Ins_p.Q402fs|PUS7L_ENST00000344862.5_Frame_Shift_Ins_p.Q402fs|PUS7L_ENST00000431332.3_Frame_Shift_Ins_p.Q89fs	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	402					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCATTTATTTGTTTTTTTAAAT	0.317																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1201-1206)aaaaatfs		pseudouridylate synthase 7 homolog (S. cerevisiae)-like																																				SO:0001589	frameshift_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44139908_44139909insT	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1204dupA	12.37:g.44139915_44139915dupT	ENSP00000415899:p.Gln402fs					PUS7L_ENST00000551923.1_Frame_Shift_Ins_p.N402fs|PUS7L_ENST00000344862.5_Frame_Shift_Ins_p.N402fs|PUS7L_ENST00000431332.3_Frame_Shift_Ins_p.N89fs	p.N402fs	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	4	1691_1692	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	402					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Frame_Shift_Ins	INS	ENST00000416848.2	37	c.1203_1204insA	CCDS8743.1																																																																																				0.317	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		14	24						14	24	---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50829360	50829361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829360_50829361insA	ENST00000398473.2	+	5	600_601	c.488_489insA	c.(487-492)ataaaafs	p.IK163fs	LARP4_ENST00000429001.3_Frame_Shift_Ins_p.IK169fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.IK93fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.IK162fs|LARP4_ENST00000347328.5_Frame_Shift_Ins_p.IK163fs|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.IK163fs|LARP4_ENST00000522085.1_Frame_Shift_Ins_p.IK163fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	163	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGGAAGAAATAAAAAAGTTGA	0.287																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(487-489)aaafs		La ribonucleoprotein domain family, member 4																																				SO:0001589	frameshift_variant	113251						nucleotide binding|RNA binding	g.chr12:50829360_50829361insA	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.494dupA	12.37:g.50829366_50829366dupA	ENSP00000381490:p.Ile163fs					LARP4_ENST00000522085.1_Frame_Shift_Ins_p.K163fs|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.K163fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.K93fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.K162fs|LARP4_ENST00000347328.5_Frame_Shift_Ins_p.K163fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.K169fs	p.K163fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			5	600_601	+			163			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Frame_Shift_Ins	INS	ENST00000398473.2	37	c.488_489insA	CCDS41782.1																																																																																				0.287	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		23	56						23	56	---	---	---	---
TMEM5	10329	broad.mit.edu	37	12	64174847	64174847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64174847delA	ENST00000261234.6	+	2	376	c.218delA	c.(217-219)gaafs	p.E73fs	TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	73						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAGGAGATGAAAAAAATGAG	0.358																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(217-219)gafs		transmembrane protein 5							89.0	95.0	93.0					12																	64174847		2203	4300	6503	SO:0001589	frameshift_variant	10329					integral to plasma membrane		g.chr12:64174847delA	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.218delA	12.37:g.64174847delA	ENSP00000261234:p.Glu73fs					RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR	p.E73fs	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	2	376	+		Myeloproliferative disorder(1001;0.0255)	73					A8K017|Q6PKD6	Frame_Shift_Del	DEL	ENST00000261234.6	37	c.218delA	CCDS8966.1																																																																																				0.358	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		7	68						7	68	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67703936	67703936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67703936delA	ENST00000545606.1	+	13	3637	c.3200delA	c.(3199-3201)gaafs	p.E1067fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1067					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAACAGGTAGAAATGGGTCCA	0.358																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3199-3201)gafs		cullin-associated and neddylation-dissociated 1							178.0	170.0	173.0					12																	67703936		2203	4300	6503	SO:0001589	frameshift_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67703936delA		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3200delA	12.37:g.67703936delA	ENSP00000442318:p.Glu1067fs						p.E1067fs	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	13	3637	+			1067					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL	ENST00000545606.1	37	c.3200delA	CCDS8977.1																																																																																				0.358	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		13	165						13	165	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70938360	70938361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70938360_70938361insA	ENST00000261266.5	-	20	4845_4846	c.4816_4817insT	c.(4816-4818)tctfs	p.S1606fs	PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S1736fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.S1824fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S1516fs	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1606					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATGGGTAAAGAAAAAAATGTG	0.411																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5470-5472)tttfs		protein tyrosine phosphatase, receptor type, B																																				SO:0001589	frameshift_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70938360_70938361insA	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4817dupT	12.37:g.70938367_70938367dupA	ENSP00000261266:p.Ser1606fs					PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.F1516fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.F1736fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.F1516fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.F1516fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.F1606fs	p.F1824fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		22	5514_5515	-	Renal(347;0.236)		1606			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Ins	INS	ENST00000261266.5	37	c.5470_5471insT	CCDS44944.1																																																																																				0.411	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			11	17						11	17	---	---	---	---
NR2C1	7181	broad.mit.edu	37	12	95451579	95451580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95451579_95451580insT	ENST00000333003.5	-	6	949_950	c.619_620insA	c.(619-621)atcfs	p.I207fs	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Frame_Shift_Ins_p.I207fs|NR2C1_ENST00000393101.3_Frame_Shift_Ins_p.I207fs	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	207					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCGGATATAGATTTTTTCTGTT	0.366																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(619-621)ctafs		nuclear receptor subfamily 2, group C, member 1																																				SO:0001589	frameshift_variant	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95451579_95451580insT	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.620dupA	12.37:g.95451585_95451585dupT	ENSP00000333275:p.Ile207fs					NR2C1_ENST00000393101.3_Frame_Shift_Ins_p.L207fs|NR2C1_ENST00000330677.7_Frame_Shift_Ins_p.L207fs|NR2C1_ENST00000545833.1_5'UTR	p.L207fs	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			6	949_950	-			207					A8K5K4|Q15625|Q15626	Frame_Shift_Ins	INS	ENST00000333003.5	37	c.619_620insA	CCDS9051.1																																																																																				0.366	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		49	87						49	87	---	---	---	---
NEDD1	121441	broad.mit.edu	37	12	97339521	97339522	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:97339521_97339522insA	ENST00000266742.4	+	14	2044_2045	c.1705_1706insA	c.(1705-1707)gaafs	p.E569fs	NEDD1_ENST00000457368.2_Frame_Shift_Ins_p.E480fs|NEDD1_ENST00000429527.2_Frame_Shift_Ins_p.E569fs|NEDD1_ENST00000411739.2_Frame_Shift_Ins_p.E480fs|NEDD1_ENST00000557644.1_Frame_Shift_Ins_p.E576fs	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	569					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTCACTCTCAGAAAAAATAGCC	0.376																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(1705-1707)aaafs		neural precursor cell expressed, developmentally down-regulated 1																																				SO:0001589	frameshift_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97339521_97339522insA		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1711dupA	12.37:g.97339527_97339527dupA	ENSP00000266742:p.Glu569fs					NEDD1_ENST00000557644.1_Frame_Shift_Ins_p.K576fs|NEDD1_ENST00000411739.2_Frame_Shift_Ins_p.K480fs|NEDD1_ENST00000457368.2_Frame_Shift_Ins_p.K480fs|NEDD1_ENST00000429527.2_Frame_Shift_Ins_p.K569fs	p.K569fs	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN			14	2044_2045	+			569					B0AZN0|B4E145|G3V3F1|Q8NA30	Frame_Shift_Ins	INS	ENST00000266742.4	37	c.1705_1706insA	CCDS9063.1																																																																																				0.376	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			25	38						25	38	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122862486	122862487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862486_122862487insT	ENST00000540338.1	-	2	147_148	c.106_107insA	c.(106-108)accfs	p.T36fs	CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T36fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	36					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTGGATATGGTTTTTTCTACT	0.386																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(106-108)catfs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862486_122862487insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.107dupA	12.37:g.122862492_122862492dupT	ENSP00000439093:p.Thr36fs					CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.H36fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.H36fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.H36fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.H36fs	p.H36fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	260_261	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		36					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.106_107insA	CCDS58285.1																																																																																				0.386	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		13	161						13	161	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		22	52						22	52	---	---	---	---
EPSTI1	94240	broad.mit.edu	37	13	43538202	43538203	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:43538202_43538203insT	ENST00000398762.3	-	4	403_404	c.404_405insA	c.(403-405)aag>aaAg	p.K135fs	EPSTI1_ENST00000313640.7_Splice_Site_p.K135fs|EPSTI1_ENST00000313624.7_Splice_Site_p.K135fs|EPSTI1_ENST00000476830.2_5'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	135										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GAATTCTGACCTTTTGCTTGTA	0.351																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.e4+1		epithelial stromal interaction 1 (breast)																																				SO:0001630	splice_region_variant	94240							g.chr13:43538202_43538203insT	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.405+1->A	13.37:g.43538206_43538206dupT						EPSTI1_ENST00000398762.3_Splice_Site_p.T135_splice|EPSTI1_ENST00000313624.7_Splice_Site_p.T135_splice|EPSTI1_ENST00000476830.2_5'UTR	p.T135_splice	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	4	468_469	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	135					Q8IVC7|Q8NDQ7	Splice_Site	INS	ENST00000398762.3	37	c.405_splice	CCDS9387.1																																																																																				0.351	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264	Frame_Shift_Ins	8	19						8	19	---	---	---	---
CCDC122	160857	broad.mit.edu	37	13	44433879	44433880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44433879_44433880insT	ENST00000444614.3	-	5	741_742	c.483_484insA	c.(481-486)aaattafs	p.L162fs	CCDC122_ENST00000281508.3_Frame_Shift_Ins_p.L162fs|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	162										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATTGTCTTTAATTTTTTAACAA	0.317																																						ENST00000444614.3																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(481-486)aataaafs		coiled-coil domain containing 122																																				SO:0001589	frameshift_variant	160857							g.chr13:44433879_44433880insT	AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.484dupA	13.37:g.44433885_44433885dupT	ENSP00000407763:p.Leu162fs					CCDC122_ENST00000281508.3_Frame_Shift_Ins_p.NK161fs|CCDC122_ENST00000476570.2_5'UTR	p.NK161fs	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)	5	741_742	-		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)	161					B2RP70|B7ZMI9|Q96MV0	Frame_Shift_Ins	INS	ENST00000444614.3	37	c.483_484insA	CCDS9390.2																																																																																				0.317	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974		37	74						37	74	---	---	---	---
SPRYD7	57213	broad.mit.edu	37	13	50489224	50489225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50489224_50489225insT	ENST00000361840.3	-	5	669_670	c.565_566insA	c.(565-567)atafs	p.I189fs	SPRYD7_ENST00000378195.2_Frame_Shift_Ins_p.I150fs	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	189										haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCAAATAATATTTTTTCAAAA	0.297																																						ENST00000378195.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(448-450)attfs		SPRY domain containing 7																																				SO:0001589	frameshift_variant	57213							g.chr13:50489224_50489225insT	AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.566dupA	13.37:g.50489230_50489230dupT	ENSP00000354774:p.Ile189fs					SPRYD7_ENST00000361840.3_Frame_Shift_Ins_p.I189fs	p.I150fs	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN			4	702_703	-			189			B30.2/SPRY.		A8K3G1|O60648|Q8TBG8|Q96T69	Frame_Shift_Ins	INS	ENST00000361840.3	37	c.448_449insA	CCDS9422.1																																																																																				0.297	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2	NM_020456		10	37						10	37	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96241463	96241464	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241463_96241464insA	ENST00000376829.2	-	19	2825		c.e19-2		DZIP1_ENST00000361396.2_Splice_Site|DZIP1_ENST00000361156.3_Splice_Site|DZIP1_ENST00000347108.3_Splice_Site	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1						cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAAC	0.277																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.e17-2		DAZ interacting zinc finger protein 1																																				SO:0001630	splice_region_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96241463_96241464insA	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1974-2->T	13.37:g.96241470_96241470dupA						DZIP1_ENST00000361156.3_Splice_Site|DZIP1_ENST00000376829.2_Splice_Site|DZIP1_ENST00000361396.2_Splice_Site				Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		17	2406	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)							Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Splice_Site	INS	ENST00000376829.2	37		CCDS9478.1																																																																																				0.277	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	Intron	16	25						16	25	---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113153377	113153378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113153377_113153378insT	ENST00000261965.3	-	20	2615_2616	c.2429_2430insA	c.(2428-2430)aagfs	p.K810fs	TUBGCP3_ENST00000375669.3_Frame_Shift_Ins_p.K810fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	810					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACGCTGTTTCTTTTTCTCTTC	0.356																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2428-2430)aaafs		tubulin, gamma complex associated protein 3																																				SO:0001589	frameshift_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113153377_113153378insT	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2430dupA	13.37:g.113153382_113153382dupT	ENSP00000261965:p.Lys810fs					TUBGCP3_ENST00000375669.3_Frame_Shift_Ins_p.K810fs	p.K810fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			20	2615_2616	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		810					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Frame_Shift_Ins	INS	ENST00000261965.3	37	c.2429_2430insA	CCDS9525.1																																																																																				0.356	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		27	38						27	38	---	---	---	---
TRAV21	28662	broad.mit.edu	37	14	22520952	22520953	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22520952_22520953insA	ENST00000390449.3	+	0	53									T cell receptor alpha variable 21																		TGTGGAAATTGAAAAAATAAAT	0.421																																						ENST00000390449.3																			0																																																			0							g.chr14:22520952_22520953insA	AE000660		14q11.2	2012-02-07			ENSG00000211801	ENSG00000211801		"""T cell receptors / TRA locus"""	12118	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170648		14.37:g.22520958_22520958dupA														0	53	+									RNA	INS	ENST00000390449.3	37																																																																																						0.421	TRAV21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409896.1	NG_001332		17	27						17	27	---	---	---	---
TINF2	26277	broad.mit.edu	37	14	24709323	24709324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24709323_24709324insA	ENST00000267415.7	-	8	1508_1509	c.1167_1168insT	c.(1165-1170)atagggfs	p.G390fs	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.G355fs|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	390					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ACCAAGTCCCCTATGGTAATGA	0.5									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000267415.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(1165-1170)atgggafs		TERF1 (TRF1)-interacting nuclear factor 2																																				SO:0001589	frameshift_variant	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24709323_24709324insA	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1167_1168insT	14.37:g.24709323_24709324insA	ENSP00000267415:p.Gly390fs					TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.M354fs|TINF2_ENST00000538777.1_3'UTR	p.M389fs	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	8	1508_1509	-			389					B3W5Q7|Q9H904|Q9UHC2	Frame_Shift_Ins	INS	ENST00000267415.7	37	c.1167_1168insT	CCDS41936.1																																																																																				0.500	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			33	331						33	331	---	---	---	---
MIA2	117153	broad.mit.edu	37	14	39716859	39716860	+	Frame_Shift_Ins	INS	-	-	A	rs141053276|rs538500709	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39716859_39716860insA	ENST00000280082.3	+	4	1280_1281	c.1081_1082insA	c.(1081-1083)gaafs	p.E361fs	RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.E361fs|MIA2_ENST00000556784.1_Frame_Shift_Ins_p.E360fs	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	361					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AATATTAACAGAAAAAAAAGAC	0.347													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	3	0.000599042	0.0008	0.0	5008	,	,		19830	0.0		0.001	False		,,,				2504	0.001					ENST00000553728.1																			0											c.(1081-1083)aaafs																																						SO:0001589	frameshift_variant	0							g.chr14:39716859_39716860insA	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1089dupA	14.37:g.39716867_39716867dupA	ENSP00000280082:p.Glu361fs					MIA2_ENST00000556784.1_Frame_Shift_Ins_p.K360fs|MIA2_ENST00000280082.3_Frame_Shift_Ins_p.K361fs	p.K361fs							4	1294_1295	+								A1L4H0|Q9H6C1	Frame_Shift_Ins	INS	ENST00000280082.3	37	c.1081_1082insA	CCDS9672.1																																																																																				0.347	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		29	35						29	35	---	---	---	---
KLHDC2	23588	broad.mit.edu	37	14	50238339	50238339	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50238339delT	ENST00000298307.5	+	2	1042	c.181delT	c.(181-183)tttfs	p.F61fs	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Frame_Shift_Del_p.F61fs|KLHDC2_ENST00000557247.1_Frame_Shift_Del_p.F61fs	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	61						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATTATATGACTTTTATCTGCC	0.313																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(181-183)ttfs		kelch domain containing 2							58.0	64.0	62.0					14																	50238339		2203	4300	6503	SO:0001589	frameshift_variant	23588					nucleus	protein binding	g.chr14:50238339delT	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.181delT	14.37:g.50238339delT	ENSP00000298307:p.Phe61fs					KLHDC2_ENST00000557247.1_Frame_Shift_Del_p.F61fs|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Frame_Shift_Del_p.F61fs	p.F61fs	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			2	1042	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		61					B3KPF9|Q6IAF0|Q86TY9	Frame_Shift_Del	DEL	ENST00000298307.5	37	c.181delT	CCDS9693.1																																																																																				0.313	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			33	49						33	49	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51224050	51224050	+	Frame_Shift_Del	DEL	T	T	-	rs34636266		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51224050delT	ENST00000382041.3	-	18	3888	c.3698delA	c.(3697-3699)aagfs	p.K1234fs	NIN_ENST00000389868.3_Intron|NIN_ENST00000245441.5_Frame_Shift_Del_p.K1234fs|NIN_ENST00000530997.2_Frame_Shift_Del_p.K1234fs|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Frame_Shift_Del_p.K1234fs|NIN_ENST00000453196.1_Frame_Shift_Del_p.K1234fs	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1234					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTCAGTTTCTTTTTTAGCAC	0.418			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3697-3699)agfs		ninein (GSK3B interacting protein)							107.0	111.0	110.0					14																	51224050		2203	4300	6503	SO:0001589	frameshift_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224050delT	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3698delA	14.37:g.51224050delT	ENSP00000371472:p.Lys1234fs					NIN_ENST00000453196.1_Frame_Shift_Del_p.K1234fs|NIN_ENST00000324330.9_Frame_Shift_Del_p.K1234fs|NIN_ENST00000382041.3_Frame_Shift_Del_p.K1234fs|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Frame_Shift_Del_p.K1234fs	p.K1234fs	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3888	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1234					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Frame_Shift_Del	DEL	ENST00000382041.3	37	c.3698delA	CCDS32079.1																																																																																				0.418	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		68	129						68	129	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58814450	58814451	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58814450_58814451insA	ENST00000355431.3	+	15	1631_1632	c.1258_1259insA	c.(1258-1260)gaafs	p.E420fs	ARID4A_ENST00000395168.3_Frame_Shift_Ins_p.E420fs|ARID4A_ENST00000431317.2_Frame_Shift_Ins_p.E420fs|ARID4A_ENST00000348476.3_Frame_Shift_Ins_p.E420fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	420					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTAAAAGAGGAAAAAAAAGAC	0.356																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1258-1260)aaafs		AT rich interactive domain 4A (RBP1-like)																																				SO:0001589	frameshift_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58814450_58814451insA	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1266dupA	14.37:g.58814458_58814458dupA	ENSP00000347602:p.Glu420fs					ARID4A_ENST00000348476.3_Frame_Shift_Ins_p.K420fs|ARID4A_ENST00000431317.2_Frame_Shift_Ins_p.K420fs|ARID4A_ENST00000395168.3_Frame_Shift_Ins_p.K420fs	p.K420fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			15	1631_1632	+			420					Q15991|Q15992|Q15993	Frame_Shift_Ins	INS	ENST00000355431.3	37	c.1258_1259insA	CCDS9732.1																																																																																				0.356	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		46	20						46	20	---	---	---	---
LINC01500	102723742	broad.mit.edu	37	14	59295080	59295080	+	lincRNA	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59295080delG	ENST00000553762.1	+	0	129																											CCATGCTTCCGGGGAGCTCCT	0.577																																						ENST00000553762.1																			0																																																			0							g.chr14:59295080delG																													14.37:g.59295080delG														0	129	+									RNA	DEL	ENST00000553762.1	37																																																																																						0.577	RP11-112J1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411630.1			2	4						2	4	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60581478	60581479	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60581478_60581479insT	ENST00000406854.1	+	3	1304_1305	c.750_751insT	c.(751-753)tttfs	p.F251fs	PCNXL4_ENST00000406949.1_Frame_Shift_Ins_p.F17fs|PCNXL4_ENST00000317623.4_Frame_Shift_Ins_p.F17fs|PCNXL4_ENST00000404681.2_Frame_Shift_Ins_p.F251fs			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	251						integral component of membrane (GO:0016021)											TCTTGTTTGTATTTTTACCCTT	0.406																																						ENST00000406854.1																			0											c.(748-753)gtttttfs		pecanex-like 4 (Drosophila)																																				SO:0001589	frameshift_variant	64430							g.chr14:60581478_60581479insT	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.755dupT	14.37:g.60581483_60581483dupT	ENSP00000384801:p.Phe251fs					PCNXL4_ENST00000406949.1_Frame_Shift_Ins_p.VF16fs|PCNXL4_ENST00000317623.4_Frame_Shift_Ins_p.VF16fs|PCNXL4_ENST00000404681.2_Frame_Shift_Ins_p.VF250fs	p.VF250fs							3	1304_1305	+								A8MXM2|Q9BQG8|Q9H9F2	Frame_Shift_Ins	INS	ENST00000406854.1	37	c.750_751insT																																																																																					0.406	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		44	87						44	87	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256767	69256768	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69256767_69256768insA	ENST00000439696.2	-	2	800_801	c.499_500insT	c.(499-501)tgcfs	p.C167fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.C167fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	167					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C167fs*66(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCCGTAGGGGCAAAAGCCGATG	0.678											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			1	Deletion - Frameshift(1)	p.C167fs*66(1)	liver(1)	breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(499-501)cccfs		ZFP36 ring finger protein-like 1																																				SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256767_69256768insA	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.500dupT	14.37:g.69256771_69256771dupA	ENSP00000388402:p.Cys167fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.P167fs	p.P167fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	800_801	-			167					Q13851	Frame_Shift_Ins	INS	ENST00000439696.2	37	c.499_500insT	CCDS9791.1																																																																																				0.678	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			29	52						29	52	---	---	---	---
FLVCR2	55640	broad.mit.edu	37	14	76090972	76090972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76090972delA	ENST00000238667.4	+	3	1185	c.829delA	c.(829-831)aaafs	p.K277fs	FLVCR2_ENST00000539311.1_Frame_Shift_Del_p.K72fs|FLVCR2_ENST00000556856.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_Frame_Shift_Del_p.K25fs	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	277					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGAGAAACCTAAATATCCCCC	0.488																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(829-831)aafs		feline leukemia virus subgroup C cellular receptor family, member 2							103.0	104.0	104.0					14																	76090972		2203	4300	6503	SO:0001589	frameshift_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76090972delA	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.829delA	14.37:g.76090972delA	ENSP00000238667:p.Lys277fs					FLVCR2_ENST00000556856.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000553587.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000539311.1_Frame_Shift_Del_p.K72fs|FLVCR2_ENST00000556241.1_3'UTR	p.K277fs	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1185	+			277					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Frame_Shift_Del	DEL	ENST00000238667.4	37	c.829delA	CCDS9844.1																																																																																				0.488	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		9	82						9	82	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88406276delT	ENST00000261304.2	-	16	1990	c.1884delA	c.(1882-1884)aaafs	p.K628fs	GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs|GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1882-1884)aafs		galactosylceramidase							160.0	154.0	156.0					14																	88406276		1860	4117	5977	SO:0001589	frameshift_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88406276delT	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1884delA	14.37:g.88406276delT	ENSP00000261304:p.Lys628fs					GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs|GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs	p.K628fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			16	1990	-			628					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Frame_Shift_Del	DEL	ENST00000261304.2	37	c.1884delA	CCDS9878.2																																																																																				0.308	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			10	179						10	179	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88792790	88792791	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88792790_88792791insA	ENST00000340700.5	-	1	460_461	c.9_10insT	c.(7-12)tttctcfs	p.L4fs		NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	4					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGTGTAGAGAAAAAACATCC	0.5																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(7-12)tttctafs		potassium channel, subfamily K, member 10																																				SO:0001589	frameshift_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88792790_88792791insA	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.10dupT	14.37:g.88792796_88792796dupA	ENSP00000343104:p.Leu4fs						p.L4fs	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			1	460_461	-			4					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Frame_Shift_Ins	INS	ENST00000340700.5	37	c.9_10insT	CCDS9880.1																																																																																				0.500	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		13	20						13	20	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52671910	52671910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52671910delA	ENST00000399231.3	-	18	2363	c.2120delT	c.(2119-2121)ttcfs	p.F707fs	MYO5A_ENST00000399233.2_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000358212.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000553916.1_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000356338.6_Frame_Shift_Del_p.F707fs	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	707	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGCGGCTGAAAAATTCTTG	0.388																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2119-2121)tcfs		myosin VA (heavy chain 12, myoxin)							130.0	123.0	125.0					15																	52671910		1867	4109	5976	SO:0001589	frameshift_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52671910delA		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2120delT	15.37:g.52671910delA	ENSP00000382177:p.Phe707fs					MYO5A_ENST00000358212.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000553916.1_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000356338.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000399233.2_Frame_Shift_Del_p.F707fs	p.F707fs	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	18	2363	-			707			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Frame_Shift_Del	DEL	ENST00000399231.3	37	c.2120delT	CCDS42037.1																																																																																				0.388	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		49	107						49	107	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62316028	62316029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62316028_62316029insT	ENST00000261517.5	-	7	537_538	c.464_465insA	c.(463-465)aagfs	p.K155fs	VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.K155fs|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000249837.3_Intron	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTTTTTTGTGCTTTTTACGTTT	0.332																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(463-465)acafs		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54832				protein localization			g.chr15:62316028_62316029insT	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.465dupA	15.37:g.62316033_62316033dupT	ENSP00000261517:p.Lys155fs					VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.T155fs	p.T155fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			7	537_538	-			155			Lys-rich.			Frame_Shift_Ins	INS	ENST00000261517.5	37	c.464_465insA	CCDS32257.1																																																																																				0.332	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		31	61						31	61	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65959878	65959879	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65959878_65959879insA	ENST00000431932.2	-	28	5225_5226	c.5017_5018insT	c.(5017-5019)tggfs	p.W1673fs	DENND4A_ENST00000443035.3_Frame_Shift_Ins_p.W1716fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1673					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TACCAGGTTCCAAAAAACAATT	0.386																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(5146-5148)gaafs		DENN/MADD domain containing 4A																																				SO:0001589	frameshift_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65959878_65959879insA	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5018dupT	15.37:g.65959884_65959884dupA	ENSP00000396830:p.Trp1673fs					DENND4A_ENST00000431932.2_Frame_Shift_Ins_p.E1673fs	p.E1716fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			29	5361_5362	-			1673					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Ins	INS	ENST00000431932.2	37	c.5146_5147insT	CCDS45285.1																																																																																				0.386	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		32	48						32	48	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79294017	79294018	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79294017_79294018insT	ENST00000419573.3	-	17	2883_2884	c.2609_2610insA	c.(2608-2610)aacfs	p.N870fs	RASGRF1_ENST00000394745.3_Frame_Shift_Ins_p.N86fs|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Frame_Shift_Ins_p.N854fs	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	870					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGAATTTTTGTTTTTGACTGA	0.411																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2608-2610)aaafs		Ras protein-specific guanine nucleotide-releasing factor 1																																				SO:0001589	frameshift_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79294017_79294018insT	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2610dupA	15.37:g.79294022_79294022dupT	ENSP00000405963:p.Asn870fs					RASGRF1_ENST00000558480.2_Frame_Shift_Ins_p.K854fs|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Frame_Shift_Ins_p.K86fs	p.K870fs	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			17	2883_2884	-			872					F8VPA5|H0YKF2|J3KQP9|Q16027	Frame_Shift_Ins	INS	ENST00000419573.3	37	c.2609_2610insA	CCDS10309.1																																																																																				0.411	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		8	137						8	137	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81565500	81565501	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81565500_81565501insT	ENST00000302987.4	+	5	745_746	c.745_746insT	c.(745-747)attfs	p.I249fs	IL16_ENST00000394660.2_Frame_Shift_Ins_p.I249fs			Q14005	IL16_HUMAN	interleukin 16	249	Interaction with GRIN2A.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGTCAAAACCATTTTTGCAGGG	0.51																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(745-747)tttfs		interleukin 16																																				SO:0001589	frameshift_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81565500_81565501insT	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.750dupT	15.37:g.81565505_81565505dupT	ENSP00000302935:p.Ile249fs					IL16_ENST00000302987.4_Frame_Shift_Ins_p.F249fs	p.F249fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			6	1105_1106	+			249			Interaction with GRIN2A.|PDZ 1.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Frame_Shift_Ins	INS	ENST00000302987.4	37	c.745_746insT	CCDS42069.1																																																																																				0.510	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		21	41						21	41	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86077162	86077163	+	Intron	INS	-	-	T	rs577220109		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86077162_86077163insT	ENST00000394518.2	+	4	573				AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000560302.1_Frame_Shift_Ins_p.L177fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATATTTCTACTTTTTTTTTAA	0.396																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000560302.1																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(529-531)tttfs		A kinase (PRKA) anchor protein 13																																				SO:0001627	intron_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86077162_86077163insT	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.478+51->T	15.37:g.86077171_86077171dupT						AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000394518.2_Intron	p.F177fs			Q12802	AKP13_HUMAN			4	699_700	+			177					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	c.529_530insT	CCDS32319.1																																																																																				0.396	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		13	13						13	13	---	---	---	---
USP7	7874	broad.mit.edu	37	16	9010900	9010901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9010900_9010901insT	ENST00000344836.4	-	7	1031_1032	c.833_834insA	c.(832-834)aagfs	p.K278fs	USP7_ENST00000535863.1_Frame_Shift_Ins_p.K179fs|USP7_ENST00000381886.4_Frame_Shift_Ins_p.K262fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	278	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTTTGTTAACTTTTTTGTTCC	0.361																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(832-834)attfs		ubiquitin specific peptidase 7 (herpes virus-associated)																																				SO:0001589	frameshift_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9010900_9010901insT	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.834dupA	16.37:g.9010906_9010906dupT	ENSP00000343535:p.Lys278fs					USP7_ENST00000535863.1_Frame_Shift_Ins_p.I179fs|USP7_ENST00000381886.4_Frame_Shift_Ins_p.I262fs	p.I278fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			7	1031_1032	-			278					A6NMY8|B7Z815|H0Y3G8	Frame_Shift_Ins	INS	ENST00000344836.4	37	c.833_834insA	CCDS32385.1																																																																																				0.361	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			33	89						33	89	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25255310	25255311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25255310_25255311insG	ENST00000328086.7	-	6	2579_2580	c.1776_1777insC	c.(1774-1779)cccagcfs	p.S593fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	593					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTGGGGTGCTGGGGGAAGGAG	0.545																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1774-1779)ccgcacfs		zinc finger with KRAB and SCAN domains 2																																				SO:0001589	frameshift_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255310_25255311insG	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1777dupC	16.37:g.25255315_25255315dupG	ENSP00000331626:p.Ser593fs						p.H593fs	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2579_2580	-			593					A1L3B4|Q6ZN77	Frame_Shift_Ins	INS	ENST00000328086.7	37	c.1776_1777insC	CCDS32410.1																																																																																				0.545	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		36	62						36	62	---	---	---	---
MAPK3	5595	broad.mit.edu	37	16	30134477	30134478	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30134477_30134478insA	ENST00000263025.4	-	1	137_138	c.53_54insT	c.(52-54)gagfs	p.E18fs	MAPK3_ENST00000484663.1_5'Flank|MAPK3_ENST00000322266.5_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000403394.1_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000395202.1_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000395200.1_5'Flank|MAPK3_ENST00000395199.3_Frame_Shift_Ins_p.E18fs	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	18					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GGCCGACCCCCTCGGTTCTACG	0.772																																						ENST00000403394.1																			0											c.(52-54)gggfs		mitogen-activated protein kinase 3	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)																																			SO:0001589	frameshift_variant	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30134477_30134478insA	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.53_54insT	16.37:g.30134477_30134478insA	ENSP00000263025:p.Glu18fs					MAPK3_ENST00000395199.3_Frame_Shift_Ins_p.G18fs|MAPK3_ENST00000322266.5_Frame_Shift_Ins_p.G18fs|MAPK3_ENST00000263025.4_Frame_Shift_Ins_p.G18fs|MAPK3_ENST00000395202.1_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN			1	152_153	-			18					A8CZ58|B0LPG3|Q8NHX1	Frame_Shift_Ins	INS	ENST00000263025.4	37	c.53_54insT	CCDS10672.1																																																																																				0.772	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			4	7						4	7	---	---	---	---
CIRH1A	84916	broad.mit.edu	37	16	69197042	69197043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197042_69197043insA	ENST00000314423.7	+	14	1785_1786	c.1608_1609insA	c.(1609-1611)aatfs	p.N537fs	CIRH1A_ENST00000563094.1_Frame_Shift_Ins_p.N537fs|CIRH1A_ENST00000352319.4_Frame_Shift_Ins_p.N422fs			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	537					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTATTGCCCCCAATACCAACAA	0.48																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1606-1611)ccatacfs		cirrhosis, autosomal recessive 1A (cirhin)																																				SO:0001589	frameshift_variant	84916					nucleolus	protein binding	g.chr16:69197042_69197043insA	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1610dupA	16.37:g.69197044_69197044dupA	ENSP00000327179:p.Asn537fs					CIRH1A_ENST00000314423.7_Frame_Shift_Ins_p.Y537fs|CIRH1A_ENST00000352319.4_Frame_Shift_Ins_p.Y422fs	p.Y537fs			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	14	1642_1643	+			537					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Frame_Shift_Ins	INS	ENST00000314423.7	37	c.1608_1609insA	CCDS10872.1																																																																																				0.480	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		28	177						28	177	---	---	---	---
AP1G1	164	broad.mit.edu	37	16	71803439	71803440	+	Intron	INS	-	-	A	rs369905839|rs535188273	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71803439_71803440insA	ENST00000299980.4	-	6	1084				AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000423132.2_Splice_Site_p.E215fs|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000569748.1_Intron	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTTGCTTTCAAAAAAAAATA	0.376													AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion	15	0.00299521	0.0008	0.0043	5008	,	,		19631	0.0		0.0089	False		,,,				2504	0.002					ENST00000423132.2																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.e7-1		adaptor-related protein complex 1, gamma 1 subunit																																				SO:0001627	intron_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71803439_71803440insA	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.642+85->T	16.37:g.71803448_71803448dupA						AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron	p.K215_splice			O43747	AP1G1_HUMAN			7	921	-		Ovarian(137;0.125)	214					O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	INS	ENST00000299980.4	37	c.642_splice	CCDS32480.1																																																																																				0.376	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			12	23						12	23	---	---	---	---
CTU2	348180	broad.mit.edu	37	16	88776649	88776649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88776649delG	ENST00000453996.2	+	4	309	c.241delG	c.(241-243)gggfs	p.G82fs	CTU2_ENST00000378384.3_5'UTR|CTU2_ENST00000567949.1_Frame_Shift_Del_p.G82fs|CTU2_ENST00000312060.5_Frame_Shift_Del_p.G82fs	NM_001012759.1	NP_001012777.1			cytosolic thiouridylase subunit 2 homolog (S. pombe)											NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCGTGGTCTGGGGGGCCTTC	0.637																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(241-243)ggfs		cytosolic thiouridylase subunit 2 homolog (S. pombe)							144.0	135.0	138.0					16																	88776649		2198	4300	6498	SO:0001589	frameshift_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88776649delG	BC021056	CCDS32506.1, CCDS45545.1	16q24.3	2013-10-11	2009-08-19	2009-08-19		ENSG00000174177			28005	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 84"""	C16orf84		19017811	Standard	NM_001012759		Approved	NCS2	uc002flm.3	Q2VPK5		ENST00000453996.2:c.241delG	16.37:g.88776649delG	ENSP00000388320:p.Gly82fs					CTU2_ENST00000378384.3_5'UTR|CTU2_ENST00000453996.2_Frame_Shift_Del_p.G82fs|CTU2_ENST00000312060.5_Frame_Shift_Del_p.G82fs	p.G82fs			Q2VPK5	CTU2_HUMAN			4	250	+			82						Frame_Shift_Del	DEL	ENST00000453996.2	37	c.241delG	CCDS45545.1																																																																																				0.637	CTU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423025.1	NM_001012762		49	75						49	75	---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6927857_6927858insC	ENST00000293805.5	+	4	631_632	c.539_540insC	c.(538-543)ggccccfs	p.GP180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619																																						ENST00000293805.5																			1	Insertion - Frameshift(1)	p.S183fs*6(1)	lung(1)	skin(1)	1						c.(538-540)gccfs		B-cell CLL/lymphoma 6, member B																																				SO:0001589	frameshift_variant	255877					nucleus	zinc ion binding	g.chr17:6927857_6927858insC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.546dupC	17.37:g.6927864_6927864dupC	ENSP00000293805:p.Gly180fs					BCL6B_ENST00000572216.1_3'UTR	p.A180fs	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			4	631_632	+			180			Pro-rich.		Q6PCB4	Frame_Shift_Ins	INS	ENST00000293805.5	37	c.539_540insC	CCDS42248.1																																																																																				0.619	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		7	177						7	177	---	---	---	---
SPEM1	374768	broad.mit.edu	37	17	7324242	7324243	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7324242_7324243insA	ENST00000323675.3	+	3	273_274	c.248_249insA	c.(247-252)cctaagfs	p.K84fs	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	84					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ACCCAGCCCCCTAAGAAGCAGA	0.594																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(247-249)caafs		spermatid maturation 1																																				SO:0001589	frameshift_variant	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324242_7324243insA	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		Exception_encountered	17.37:g.7324242_7324243insA	ENSP00000315554:p.Lys84fs					RP11-104H15.7_ENST00000575310.1_RNA	p.Q83fs	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			3	273_274	+		Prostate(122;0.173)	83						Frame_Shift_Ins	INS	ENST00000323675.3	37	c.248_249insA	CCDS42254.1																																																																																				0.594	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		16	122						16	122	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19729453delT	ENST00000395544.4	-	11	1333	c.834delA	c.(832-834)aaa>aa	p.K278fs	ULK2_ENST00000361658.2_Splice_Site_p.K278fs|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	278					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K278fs*130(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GATACTCACATTTTTTTACTG	0.294																																						ENST00000395544.4																			1	Deletion - Frameshift(1)	p.K278fs*130(1)	stomach(1)	large_intestine(1)|skin(4)|stomach(1)	6						c.e11+1		unc-51 like autophagy activating kinase 2							70.0	71.0	70.0					17																	19729453		2203	4295	6498	SO:0001630	splice_region_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19729453delT	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.835+1A>-	17.37:g.19729453delT						ULK2_ENST00000580130.1_Intron|ULK2_ENST00000361658.2_Splice_Site_p.K278_splice	p.K278_splice	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			11	1333	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		278					A8MY69|O75119	Splice_Site	DEL	ENST00000395544.4	37	c.835_splice	CCDS11213.1																																																																																				0.294	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683	Frame_Shift_Del	12	91						12	91	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27030736	27030737	+	IGR	INS	-	-	T	rs201634767	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27030736_27030737insT	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Frame_Shift_Ins_p.R284fs|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.R286fs|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R284W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCCTGCCCCCGGCCATTGTAA	0.569																																						ENST00000301039.2																			1	Substitution - Missense(1)	p.R284W(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(850-852)gggfs		protein interacting with cyclin A1																																				SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27030736_27030737insT	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030736_27030737insT						PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.G286fs	p.G284fs	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			4	1043_1044	-	Lung NSC(42;0.00431)		312					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Frame_Shift_Ins	INS	ENST00000314616.6	37	c.850_851insA	CCDS32596.1																																																																																				0.569	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		17	107						17	107	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963207	27963208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27963207_27963208insA	ENST00000269033.3	-	14	2110_2111	c.1959_1960insT	c.(1957-1962)tttagtfs	p.S654fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.S681fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	654					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTAGGGCACTAAAAAAGTCAA	0.505																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1957-1962)ttgtgcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963207_27963208insA	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1960dupT	17.37:g.27963213_27963213dupA	ENSP00000269033:p.Ser654fs					SSH2_ENST00000540801.1_Frame_Shift_Ins_p.LC680fs|RP11-68I3.2_ENST00000581474.1_RNA	p.LC653fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2110_2111	-			653					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1959_1960insT	CCDS11253.1																																																																																				0.505	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		30	83						30	83	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	-	C	rs587781807		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29553477_29553478insC	ENST00000358273.4	+	18	2409_2410	c.2026_2027insC	c.(2026-2028)accfs	p.T676fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.T676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	676					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.46			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.P678fs*10(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2026-2028)cccfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553477_29553478insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2033dupC	17.37:g.29553484_29553484dupC	ENSP00000351015:p.Thr676fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs	p.P676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2409_2410	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	676					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.2026_2027insC	CCDS42292.1																																																																																				0.460	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	27						7	27	---	---	---	---
OMG	4974	broad.mit.edu	37	17	29622442	29622443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622442_29622443insT	ENST00000247271.4	-	2	1168_1169	c.907_908insA	c.(907-909)atafs	p.I303fs	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	303					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTGTTTGGGTATTTTGGTCACT	0.431																																						ENST00000247271.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13						c.(907-909)accfs		oligodendrocyte myelin glycoprotein																																				SO:0001589	frameshift_variant	4974				cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		g.chr17:29622442_29622443insT		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.908dupA	17.37:g.29622446_29622446dupT	ENSP00000247271:p.Ile303fs					NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.T303fs	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)	2	1168_1169	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	303					E1P659	Frame_Shift_Ins	INS	ENST00000247271.4	37	c.907_908insA	CCDS11265.1																																																																																				0.431	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544		15	131						15	131	---	---	---	---
AP2B1	163	broad.mit.edu	37	17	33935342	33935342	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33935342delA	ENST00000262325.7	+	5	1014	c.461delA	c.(460-462)caafs	p.Q154fs	AP2B1_ENST00000592545.1_Frame_Shift_Del_p.Q116fs|AP2B1_ENST00000538556.1_Frame_Shift_Del_p.Q97fs|AP2B1_ENST00000312678.8_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000537622.2_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000589344.1_Frame_Shift_Del_p.Q154fs	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	154					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATCAATGCCCAAATGGTGGAA	0.448																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(460-462)cafs		adaptor-related protein complex 2, beta 1 subunit							107.0	110.0	109.0					17																	33935342		2203	4300	6503	SO:0001589	frameshift_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33935342delA	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.461delA	17.37:g.33935342delA	ENSP00000262325:p.Gln154fs					AP2B1_ENST00000592545.1_Frame_Shift_Del_p.Q116fs|AP2B1_ENST00000589344.1_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000538556.1_Frame_Shift_Del_p.Q97fs|AP2B1_ENST00000537622.2_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000312678.8_Frame_Shift_Del_p.Q154fs	p.Q154fs	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	5	1014	+		Ovarian(249;0.17)	154					A6NJP3|P21851|Q7Z451|Q96J19	Frame_Shift_Del	DEL	ENST00000262325.7	37	c.461delA	CCDS32622.1																																																																																				0.448	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			7	124						7	124	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77.0	78.0	78.0		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	84						8	84	---	---	---	---
ARHGAP28	79822	broad.mit.edu	37	18	6882228	6882229	+	Frame_Shift_Ins	INS	-	-	T	rs80166861	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6882228_6882229insT	ENST00000383472.4	+	11	1487_1488	c.1383_1384insT	c.(1384-1386)tttfs	p.F462fs	ARHGAP28_ENST00000532996.1_Frame_Shift_Ins_p.F285fs|ARHGAP28_ENST00000314319.3_Frame_Shift_Ins_p.F303fs|ARHGAP28_ENST00000419673.2_Frame_Shift_Ins_p.F303fs|ARHGAP28_ENST00000262227.3_Frame_Shift_Ins_p.F410fs|ARHGAP28_ENST00000418986.1_Frame_Shift_Ins_p.F303fs|ARHGAP28_ENST00000400091.2_Frame_Shift_Ins_p.F462fs|ARHGAP28_ENST00000531294.1_Frame_Shift_Ins_p.F298fs			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	462	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGTTGAAAGCGTTTTTCAGAGA	0.391																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(904-909)gcttttfs		Rho GTPase activating protein 28																																				SO:0001589	frameshift_variant	79822				signal transduction	intracellular		g.chr18:6882228_6882229insT	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1388dupT	18.37:g.6882233_6882233dupT	ENSP00000372964:p.Phe462fs					ARHGAP28_ENST00000383472.4_Frame_Shift_Ins_p.AF461fs|ARHGAP28_ENST00000400091.2_Frame_Shift_Ins_p.AF461fs|ARHGAP28_ENST00000531294.1_Frame_Shift_Ins_p.AF297fs|ARHGAP28_ENST00000532996.1_Frame_Shift_Ins_p.AF284fs|ARHGAP28_ENST00000418986.1_Frame_Shift_Ins_p.AF302fs|ARHGAP28_ENST00000314319.3_Frame_Shift_Ins_p.AF302fs|ARHGAP28_ENST00000262227.3_Frame_Shift_Ins_p.AF409fs	p.AF302fs	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			10	1123_1124	+		Colorectal(10;0.168)	284					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Frame_Shift_Ins	INS	ENST00000383472.4	37	c.906_907insT																																																																																					0.391	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		32	42						32	42	---	---	---	---
MPPE1	65258	broad.mit.edu	37	18	11886499	11886499	+	Splice_Site	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11886499delT	ENST00000588072.1	-	9	2087	c.866delA	c.(865-867)aag>ag	p.K289fs	MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000309976.9_Intron|MPPE1_ENST00000344987.7_Splice_Site_p.K267fs|MPPE1_ENST00000399978.2_Splice_Site_p.K290fs	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	289					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTGGCAAACCTTTTGTGATGC	0.502																																						ENST00000588072.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.e9+1		metallophosphoesterase 1							146.0	112.0	124.0					18																	11886499		2203	4300	6503	SO:0001630	splice_region_variant	65258				ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity	g.chr18:11886499delT	BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.867+1A>-	18.37:g.11886499delT						MPPE1_ENST00000399978.2_Splice_Site_p.K290_splice|MPPE1_ENST00000344987.7_Splice_Site_p.K267_splice|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000309976.9_Intron	p.K289_splice	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN			9	2087	-			289					B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Splice_Site	DEL	ENST00000588072.1	37	c.867_splice	CCDS11853.1																																																																																				0.502	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075	Frame_Shift_Del	7	96						7	96	---	---	---	---
WBP11P1	441818	broad.mit.edu	37	18	30091781	30091782	+	RNA	INS	-	-	T	rs563203060	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30091781_30091782insT	ENST00000567636.1	+	0	156_157					NR_003558.1				WW domain binding protein 11 pseudogene 1																		ttttctttttctttttttttAA	0.416																																						ENST00000567636.1																			0																																																			0							g.chr18:30091781_30091782insT	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091790_30091790dupT								NR_003558.1						0	156_157	+									RNA	INS	ENST00000567636.1	37																																																																																						0.416	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			15	32						15	32	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56648824	56648824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56648824delA	ENST00000336078.4	+	10	4162	c.3386delA	c.(3385-3387)gaafs	p.E1129fs	ZNF532_ENST00000591230.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591808.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591083.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000589288.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATGAGGAGGAAACAGAAATA	0.408																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(3385-3387)gafs		zinc finger protein 532							60.0	59.0	60.0					18																	56648824		2203	4300	6503	SO:0001589	frameshift_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56648824delA	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3386delA	18.37:g.56648824delA	ENSP00000338217:p.Glu1129fs					ZNF532_ENST00000591808.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000589288.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591230.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591083.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000588956.1_3'UTR	p.E1129fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			10	4162	+			1129					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Frame_Shift_Del	DEL	ENST00000336078.4	37	c.3386delA	CCDS11969.1																																																																																				0.408	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		7	53						7	53	---	---	---	---
MUM1	84939	broad.mit.edu	37	19	1364551	1364552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1364551_1364552insA	ENST00000415183.3	+	6	1286_1287	c.1260_1261insA	c.(1261-1263)aaafs	p.K421fs	MUM1_ENST00000311401.5_Frame_Shift_Ins_p.K352fs|MUM1_ENST00000591806.1_Frame_Shift_Ins_p.K421fs|MUM1_ENST00000344663.3_Frame_Shift_Ins_p.K421fs			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	420	PWWP.				chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCATAAACATAAAAAATACCC	0.337											OREG0025116	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311401.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1051-1056)caaaaafs		melanoma associated antigen (mutated) 1																																				SO:0001589	frameshift_variant	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1364551_1364552insA	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1266dupA	19.37:g.1364557_1364557dupA	ENSP00000394925:p.Lys421fs		OREG0025116	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	595	MUM1_ENST00000415183.3_Frame_Shift_Ins_p.QK420fs|MUM1_ENST00000591806.1_Frame_Shift_Ins_p.QK420fs|MUM1_ENST00000344663.3_Frame_Shift_Ins_p.QK420fs	p.QK351fs			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1439_1440	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	419					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Frame_Shift_Ins	INS	ENST00000415183.3	37	c.1053_1054insA																																																																																					0.337	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		16	51						16	51	---	---	---	---
RANBP3	8498	broad.mit.edu	37	19	5923913	5923914	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5923913_5923914insT	ENST00000340578.6	-	12	1065_1066	c.1008_1009insA	c.(1006-1011)aaattafs	p.L337fs	RANBP3_ENST00000541471.1_Frame_Shift_Ins_p.L209fs|RANBP3_ENST00000591092.1_Frame_Shift_Ins_p.L264fs|RANBP3_ENST00000439268.2_Frame_Shift_Ins_p.L332fs|RANBP3_ENST00000034275.8_Frame_Shift_Ins_p.L269fs	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	337					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACCTCGTTTAATTTTGGGGGGC	0.559																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(1006-1011)aataaafs		RAN binding protein 3																																				SO:0001589	frameshift_variant	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5923913_5923914insT	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1009dupA	19.37:g.5923917_5923917dupT	ENSP00000341483:p.Leu337fs					RANBP3_ENST00000439268.2_Frame_Shift_Ins_p.NK331fs|RANBP3_ENST00000541471.1_Frame_Shift_Ins_p.NK208fs|RANBP3_ENST00000034275.8_Frame_Shift_Ins_p.NK268fs|RANBP3_ENST00000591092.1_Frame_Shift_Ins_p.NK263fs	p.NK336fs	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			12	1065_1066	-			336					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Frame_Shift_Ins	INS	ENST00000340578.6	37	c.1008_1009insA	CCDS42478.1																																																																																				0.559	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		9	24						9	24	---	---	---	---
ZNF69	7620	broad.mit.edu	37	19	12015805	12015806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015805_12015806insA	ENST00000429654.2	+	4	733_734	c.593_594insA	c.(592-597)ggaaaafs	p.GK198fs	ZNF69_ENST00000340180.5_Intron			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AAAGAATGTGGAAAAACTTTTA	0.401																																						ENST00000429654.2																			0				endometrium(1)|large_intestine(1)|skin(2)	4						c.(592-594)gaafs		zinc finger protein 69																																				SO:0001589	frameshift_variant	7620					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:12015805_12015806insA	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.598dupA	19.37:g.12015810_12015810dupA	ENSP00000402985:p.Gly198fs					ZNF69_ENST00000340180.5_Intron	p.E198fs			Q9UC07	ZNF69_HUMAN		Lung(535;0.011)	4	733_734	+			198					Q86VA7	Frame_Shift_Ins	INS	ENST00000429654.2	37	c.593_594insA																																																																																					0.401	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		12	128						12	128	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461740	12461741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12461740_12461741insA	ENST00000242804.4	-	6	1240_1241	c.658_659insT	c.(658-660)tggfs	p.W220fs	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Frame_Shift_Ins_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAAACTAGGCCAAAAAAAGGCT	0.401																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(658-660)gccfs		zinc finger protein 442				0,4262		0,0,2131						-1.7	0.0			134	1,8253		0,1,4126	no	frameshift	ZNF442	NM_030824.2		0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12515				SO:0001589	frameshift_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461740_12461741insA	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.659dupT	19.37:g.12461747_12461747dupA	ENSP00000242804:p.Trp220fs					ZNF442_ENST00000438182.1_Frame_Shift_Ins_p.A151fs	p.A220fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1240_1241	-			220					B4DJ48	Frame_Shift_Ins	INS	ENST00000242804.4	37	c.658_659insT	CCDS12271.1																																																																																				0.401	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		43	100						43	100	---	---	---	---
ANKLE1	126549	broad.mit.edu	37	19	17394492	17394493	+	Frame_Shift_Ins	INS	-	-	A	rs139428363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17394492_17394493insA	ENST00000394458.3	+	5	1195_1196	c.919_920insA	c.(919-921)ccafs	p.P307fs	ANKLE1_ENST00000404085.1_Frame_Shift_Ins_p.P329fs|ANKLE1_ENST00000598347.1_Frame_Shift_Ins_p.P307fs|ANKLE1_ENST00000594072.1_Frame_Shift_Ins_p.P296fs|ANKLE1_ENST00000433424.2_Frame_Shift_Ins_p.P361fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	307										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCATAGCCCCCCACGGACACCA	0.609																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(919-921)acgfs		ankyrin repeat and LEM domain containing 1																																				SO:0001589	frameshift_variant	126549					nuclear envelope		g.chr19:17394492_17394493insA	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	Exception_encountered	19.37:g.17394492_17394493insA	ENSP00000377971:p.Pro307fs					ANKLE1_ENST00000598347.1_Frame_Shift_Ins_p.T307fs|ANKLE1_ENST00000594072.1_Frame_Shift_Ins_p.T296fs|ANKLE1_ENST00000433424.2_Frame_Shift_Ins_p.T361fs|ANKLE1_ENST00000404085.1_Frame_Shift_Ins_p.T329fs	p.T307fs	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			5	1195_1196	+			307					A8VU82|Q8N8J8	Frame_Shift_Ins	INS	ENST00000394458.3	37	c.919_920insA	CCDS12354.2																																																																																				0.609	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		8	69						8	69	---	---	---	---
CEBPG	1054	broad.mit.edu	37	19	33870462	33870463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33870462_33870463insA	ENST00000284000.4	+	2	979_980	c.317_318insA	c.(316-321)gcaaaafs	p.AK106fs	CEBPG_ENST00000585933.2_Frame_Shift_Ins_p.AK106fs	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	106	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CGGTTGGAAGCAAAAATCAAAT	0.416																																						ENST00000284000.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7						c.(316-318)gaafs		CCAAT/enhancer binding protein (C/EBP), gamma																																				SO:0001589	frameshift_variant	1054				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:33870462_33870463insA	U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"""basic leucine zipper proteins"""	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.322dupA	19.37:g.33870467_33870467dupA	ENSP00000284000:p.Ala106fs						p.E106fs	NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN			2	979_980	+	Esophageal squamous(110;0.137)		106			Leucine-zipper.		B2R946|Q5U052	Frame_Shift_Ins	INS	ENST00000284000.4	37	c.317_318insA	CCDS12432.1																																																																																				0.416	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		9	15						9	15	---	---	---	---
ZNF30	90075	broad.mit.edu	37	19	35435001	35435002	+	Frame_Shift_Ins	INS	-	-	G	rs78688282	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35435001_35435002insG	ENST00000601142.1	+	5	1368_1369	c.1131_1132insG	c.(1132-1134)gggfs	p.G378fs	ZNF30_ENST00000426813.2_Frame_Shift_Ins_p.G297fs|ZNF30_ENST00000303586.7_Frame_Shift_Ins_p.G379fs|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Frame_Shift_Ins_p.G379fs			P17039	ZNF30_HUMAN	zinc finger protein 30	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAAGGAATGCGGGAGAACCTT	0.46																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1132-1137)tgggagfs		zinc finger protein 30																																				SO:0001589	frameshift_variant	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435001_35435002insG	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1134dupG	19.37:g.35435004_35435004dupG	ENSP00000469954:p.Gly378fs					ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Frame_Shift_Ins_p.E379fs|ZNF30_ENST00000601142.1_Frame_Shift_Ins_p.E378fs|ZNF30_ENST00000426813.2_Frame_Shift_Ins_p.E297fs	p.E379fs	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1578_1579	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		378		R -> K (in dbSNP:rs1345658).			A5PLP1|A8K320|B4DIC0|Q6N068	Frame_Shift_Ins	INS	ENST00000601142.1	37	c.1134_1135insG	CCDS46045.1																																																																																				0.460	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		11	30						11	30	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37643466	37643466	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643466delT	ENST00000356958.4	-	5	1593	c.1335delA	c.(1333-1335)aaafs	p.K445fs	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.K390fs			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTAAACAATTTCCCACAGT	0.423																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1333-1335)aafs		zinc finger protein 585A							121.0	117.0	118.0					19																	37643466		2203	4300	6503	SO:0001589	frameshift_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643466delT	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1335delA	19.37:g.37643466delT	ENSP00000349440:p.Lys445fs					ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000588723.1_Intron	p.K445fs			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1593	-			445					Q8TE95|Q96MV3	Frame_Shift_Del	DEL	ENST00000356958.4	37	c.1335delA																																																																																					0.423	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		13	153						13	153	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37678054	37678055	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37678054_37678055insT	ENST00000532828.2	-	5	635_636	c.384_385insA	c.(382-387)aaatccfs	p.S129fs	ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.S74fs|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Frame_Shift_Ins_p.S129fs|ZNF585B_ENST00000312908.5_5'Flank	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCATAGGATTTTTCCCCAG	0.371																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(382-387)aacctafs		zinc finger protein 585B																																				SO:0001589	frameshift_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37678054_37678055insT	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.385dupA	19.37:g.37678059_37678059dupT	ENSP00000433773:p.Ser129fs					CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.NL73fs|ZNF585B_ENST00000527838.1_Frame_Shift_Ins_p.NL128fs	p.NL128fs	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	635_636	-			128					Q8IZD3|Q96JW6	Frame_Shift_Ins	INS	ENST00000532828.2	37	c.384_385insA	CCDS12500.1																																																																																				0.371	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		36	54						36	54	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38951154	38951155	+	Frame_Shift_Ins	INS	-	-	A	rs140686309	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38951154_38951155insA	ENST00000359596.3	+	20	2500_2501	c.2500_2501insA	c.(2500-2502)cggfs	p.R834fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.R834fs|RYR1_ENST00000355481.4_Frame_Shift_Ins_p.R834fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	834					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGAGGGGCCCCGGGGGCCTCAC	0.639																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2500-2502)gggfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38951154_38951155insA	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		Exception_encountered	19.37:g.38951154_38951155insA	ENSP00000352608:p.Arg834fs					RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G834fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G834fs	p.G834fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2631_2632	+	all_cancers(60;7.91e-06)		834					Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Ins	INS	ENST00000359596.3	37	c.2500_2501insA	CCDS33011.1																																																																																				0.639	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			18	124						18	124	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47422504	47422505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47422504_47422505insA	ENST00000404338.3	+	1	572_573	c.572_573insA	c.(571-576)acaaaafs	p.TK191fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	191					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTGCAAAAACAAAAAAGCCCA	0.426																																						ENST00000404338.3																			0											c.(571-573)aaafs		Rho GTPase activating protein 35																																				SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422504_47422505insA	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.578dupA	19.37:g.47422510_47422510dupA	ENSP00000385720:p.Thr191fs						p.K191fs	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	572_573	+			191					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Ins	INS	ENST00000404338.3	37	c.572_573insA	CCDS46127.1																																																																																				0.426	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		29	53						29	53	---	---	---	---
ZNF749	388567	broad.mit.edu	37	19	57955361	57955361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57955361delG	ENST00000334181.4	+	3	1095	c.845delG	c.(844-846)aggfs	p.R282fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CTTTCAAAAAGGTCTGACCCC	0.443																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(844-846)agfs		zinc finger protein 749							72.0	74.0	73.0					19																	57955361		2203	4300	6503	SO:0001589	frameshift_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955361delG	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.845delG	19.37:g.57955361delG	ENSP00000333980:p.Arg282fs					AC004076.9_ENST00000596831.1_Intron	p.R282fs	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1095	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	282						Frame_Shift_Del	DEL	ENST00000334181.4	37	c.845delG	CCDS33132.2																																																																																				0.443	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		29	53						29	53	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13763274	13763275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13763274_13763275insT	ENST00000202816.1	-	2	619_620	c.512_513insA	c.(511-513)aacfs	p.N171fs	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTGAACAATGTTTTTTTTCTC	0.317																																						ENST00000202816.1																			1	Deletion - Frameshift(1)	p.N171fs*18(1)	large_intestine(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(511-513)aatfs		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763274_13763275insT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.513dupA	20.37:g.13763282_13763282dupT	ENSP00000202816:p.Asn171fs						p.N171fs	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			2	619_620	-			171					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Ins	INS	ENST00000202816.1	37	c.512_513insA	CCDS13117.1																																																																																				0.317	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		7	46						7	46	---	---	---	---
TTPAL	79183	broad.mit.edu	37	20	43113129	43113129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43113129delT	ENST00000372904.3	+	4	741	c.598delT	c.(598-600)tttfs	p.F200fs	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Frame_Shift_Del_p.F200fs	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	200	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGCATCTCACTTTGGCCCTTT	0.458																																						ENST00000372904.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.(598-600)ttfs		tocopherol (alpha) transfer protein-like							122.0	109.0	114.0					20																	43113129		2203	4300	6503	SO:0001589	frameshift_variant	79183					intracellular	transporter activity	g.chr20:43113129delT	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.598delT	20.37:g.43113129delT	ENSP00000361995:p.Phe200fs					TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Frame_Shift_Del_p.F200fs	p.F200fs	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN			4	741	+			200			CRAL-TRIO.		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Frame_Shift_Del	DEL	ENST00000372904.3	37	c.598delT	CCDS13332.2																																																																																				0.458	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		13	145						13	145	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44673721	44673722	+	Frame_Shift_Ins	INS	-	-	A	rs41282782	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44673721_44673722insA	ENST00000454036.2	+	12	1629_1630	c.1580_1581insA	c.(1579-1584)acggggfs	p.TG527fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.TG504fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	527					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGAGCCTCACGGGGGCCCCAC	0.619																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1579-1581)aggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673721_44673722insA	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	Exception_encountered	20.37:g.44673721_44673722insA	ENSP00000387694:p.Thr527fs					SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.R504fs|SLC12A5_ENST00000539566.1_Intron	p.R527fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			12	1656_1657	+		Myeloproliferative disorder(115;0.0122)	527					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.1580_1581insA	CCDS46610.1																																																																																				0.619	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			15	135						15	135	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47858511	47858512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858511_47858512insG	ENST00000371764.4	+	17	2081_2082	c.2072_2073insG	c.(2071-2076)aaggggfs	p.KG691fs	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAAAAAAAGGGGGAGATGA	0.51																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2071-2073)aggfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27																																				SO:0001589	frameshift_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858511_47858512insG	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2077dupG	20.37:g.47858516_47858516dupG	ENSP00000360828:p.Lys691fs					ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron	p.R691fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		17	2081_2082	+			691					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Ins	INS	ENST00000371764.4	37	c.2072_2073insG	CCDS13416.1																																																																																				0.510	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			36	67						36	67	---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49508204	49508204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508204delT	ENST00000396029.3	-	5	3614	c.3047delA	c.(3046-3048)aagfs	p.K1016fs	ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATGGTAGCCTTTTTTTTGGC	0.458																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(3046-3048)agfs		activity-dependent neuroprotector homeobox							106.0	100.0	102.0					20																	49508204		2203	4300	6503	SO:0001589	frameshift_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508204delT	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3047delA	20.37:g.49508204delT	ENSP00000379346:p.Lys1016fs					ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs	p.K1016fs	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3614	-			1016					E1P5Y2|O94881|Q5BKU2|Q9UG34	Frame_Shift_Del	DEL	ENST00000396029.3	37	c.3047delA	CCDS13433.1																																																																																				0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		12	134						12	134	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15561361	15561362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15561361_15561362insT	ENST00000536861.1	-	2	424_425	c.425_426insA	c.(424-426)aatfs	p.N142fs	LIPI_ENST00000344577.2_Frame_Shift_Ins_p.N163fs			Q6XZB0	LIPI_HUMAN	lipase, member I	142					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTACCAAAAGATTTTTAATGTG	0.332																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(487-489)actfs		lipase, member I																																				SO:0001589	frameshift_variant	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561361_15561362insT	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.426dupA	21.37:g.15561366_15561366dupT	ENSP00000440381:p.Asn142fs					LIPI_ENST00000536861.1_Frame_Shift_Ins_p.T142fs	p.T163fs	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	513_514	-			142					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Frame_Shift_Ins	INS	ENST00000536861.1	37	c.488_489insA																																																																																					0.332	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		20	46						20	46	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32482206	32482207	+	Splice_Site	INS	-	-	A	rs200271640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32482206_32482207insA	ENST00000266088.4	+	10	1271_1272		c.e10-1		SLC5A1_ENST00000543737.1_Splice_Site	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TCTCTTCCCAGAAAAAATTGCC	0.446																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.e10-1		solute carrier family 5 (sodium/glucose cotransporter), member 1																																				SO:0001630	splice_region_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32482206_32482207insA		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1022-1->A	22.37:g.32482212_32482212dupA						SLC5A1_ENST00000543737.1_Splice_Site		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			10	1271_1272	+								B2R7E2|B7Z4Q9|B7ZA69	Splice_Site	INS	ENST00000266088.4	37		CCDS13902.1																																																																																				0.446	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343	Intron	75	127						75	127	---	---	---	---
TTLL8	164714	broad.mit.edu	37	22	50479633	50479634	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50479633_50479634insG	ENST00000266182.6	-	8	902_903	c.903_904insC	c.(901-906)cccacafs	p.T302fs	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	326	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTCGGGCTGTGGGGGGCTCAA	0.559																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(901-906)cccagcfs		tubulin tyrosine ligase-like family, member 8																																				SO:0001589	frameshift_variant	164714							g.chr22:50479633_50479634insG			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.904dupC	22.37:g.50479639_50479639dupG	ENSP00000266182:p.Thr302fs					TTLL8_ENST00000440475.1_Intron	p.S302fs						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	8	902_903	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Frame_Shift_Ins	INS	ENST00000266182.6	37	c.903_904insC																																																																																					0.559	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		9	107						9	107	---	---	---	---
GPR143	4935	broad.mit.edu	37	X	9709462	9709463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9709462_9709463insA	ENST00000467482.1	-	7	946_947	c.800_801insT	c.(799-801)ttafs	p.L267fs	GPR143_ENST00000487206.1_5'Flank|GPR143_ENST00000380929.2_Frame_Shift_Ins_p.L287fs			P51810	GP143_HUMAN	G protein-coupled receptor 143	267					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CAAGATAGAATAAAAGGCTTTC	0.371																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(799-801)tttfs		G protein-coupled receptor 143																																				SO:0001589	frameshift_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9709462_9709463insA	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.801dupT	X.37:g.9709466_9709466dupA	ENSP00000417161:p.Leu267fs					GPR143_ENST00000380929.2_Frame_Shift_Ins_p.F287fs	p.F267fs			P51810	GP143_HUMAN			7	946_947	-		Hepatocellular(5;0.000888)	267					Q6NTI7	Frame_Shift_Ins	INS	ENST00000467482.1	37	c.800_801insT	CCDS14134.2																																																																																				0.371	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		10	23						10	23	---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418637	48418638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48418637_48418638insC	ENST00000376771.4	+	6	1682_1683	c.1341_1342insC	c.(1342-1344)cccfs	p.P448fs	TBC1D25_ENST00000537536.1_Frame_Shift_Ins_p.P194fs|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	448					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCTGGTTGGACCCCCCAGCCA	0.614																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1339-1344)ggccccfs		TBC1 domain family, member 25																																				SO:0001589	frameshift_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48418637_48418638insC	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1347dupC	X.37:g.48418643_48418643dupC	ENSP00000365962:p.Pro448fs					TBC1D25_ENST00000537536.1_Frame_Shift_Ins_p.GP193fs|TBC1D25_ENST00000427713.1_3'UTR	p.GP447fs	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1682_1683	+			447					Q08AN9|Q3MII4|Q8TAR9	Frame_Shift_Ins	INS	ENST00000376771.4	37	c.1341_1342insC	CCDS35242.1																																																																																				0.614	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		10	20						10	20	---	---	---	---
RP11-382F24.2	0	broad.mit.edu	37	X	55307776	55307777	+	RNA	INS	-	-	T	rs186891278		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55307776_55307777insT	ENST00000440645.2	+	0	0																											TTCTTACACACTTTTTCCAAAT	0.307																																						ENST00000440645.1																			0																																																			0							g.chrX:55307776_55307777insT																													X.37:g.55307781_55307781dupT														0	10	+									RNA	INS	ENST00000440645.2	37																																																																																						0.307	RP11-382F24.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000056864.2			10	12						10	12	---	---	---	---
DLG3	1741	broad.mit.edu	37	X	69712375	69712376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69712375_69712376insA	ENST00000374360.3	+	12	1935_1936	c.1702_1703insA	c.(1702-1704)gaafs	p.E568fs	DLG3_ENST00000374355.3_Frame_Shift_Ins_p.E231fs|DLG3_ENST00000542398.1_Frame_Shift_Ins_p.E85fs|DLG3_ENST00000194900.4_Frame_Shift_Ins_p.E586fs	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	568	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AAACAGGGTGGAAAAGAAAGAA	0.48																																						ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(1756-1758)aaafs		discs, large homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69712375_69712376insA	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1706dupA	X.37:g.69712379_69712379dupA	ENSP00000363480:p.Glu568fs					DLG3_ENST00000374360.3_Frame_Shift_Ins_p.K568fs|DLG3_ENST00000374355.3_Frame_Shift_Ins_p.K231fs|DLG3_ENST00000542398.1_Frame_Shift_Ins_p.K85fs	p.K586fs			Q92796	DLG3_HUMAN			13	2097_2098	+	Renal(35;0.156)		568					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Frame_Shift_Ins	INS	ENST00000374360.3	37	c.1756_1757insA	CCDS14403.1																																																																																				0.480	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		10	13						10	13	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73044276	73044277	+	lincRNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73044276_73044277insT	ENST00000604411.1	+	0	32237_32238				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		gtattgccttatttTTGGCTGT	0.322																																						ENST00000604411.1																			0																																																			0							g.chrX:73044276_73044277insT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73044281_73044281dupT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	32237_32238	+									RNA	INS	ENST00000604411.1	37																																																																																						0.322	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		8	11						8	11	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107976513	107976513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107976513delA	ENST00000372129.2	-	1	3138	c.3062delT	c.(3061-3063)ttcfs	p.F1021fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1021					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCTGAGTTGAAAATTACTTC	0.488																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(3061-3063)tcfs		insulin receptor substrate 4							87.0	80.0	82.0					X																	107976513		2203	4300	6503	SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976513delA	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3062delT	X.37:g.107976513delA	ENSP00000361202:p.Phe1021fs						p.F1021fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	3138	-			1021						Frame_Shift_Del	DEL	ENST00000372129.2	37	c.3062delT	CCDS14544.1																																																																																				0.488	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		9	102						9	102	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115573968	115573968	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573968delA	ENST00000371900.4	+	4	548	c.460delA	c.(460-462)aaafs	p.K154fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	154					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ACTACCATGGAAAAATTGTTC	0.308																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(460-462)aafs		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						116.0	110.0	112.0					X																	115573968		2203	4297	6500	SO:0001589	frameshift_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115573968delA	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.460delA	X.37:g.115573968delA	ENSP00000360967:p.Lys154fs						p.K154fs	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			4	548	+			154					Q5H942	Frame_Shift_Del	DEL	ENST00000371900.4	37	c.460delA	CCDS14570.1																																																																																				0.308	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			63	107						63	107	---	---	---	---
AKAP14	158798	broad.mit.edu	37	X	119048673	119048674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119048673_119048674insA	ENST00000371431.3	+	5	547_548	c.273_274insA	c.(274-276)aaafs	p.K92fs	AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000334356.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	92					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AGTGTGTTTCTAAAAAATGCTG	0.401																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(271-276)tcaaaafs		A kinase (PRKA) anchor protein 14																																				SO:0001589	frameshift_variant	158798					cytoplasm		g.chrX:119048673_119048674insA	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.279dupA	X.37:g.119048679_119048679dupA	ENSP00000360485:p.Lys92fs					AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron	p.SK91fs	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			5	547_548	+			91					A6NNZ0|Q86UN4|Q86UN5	Frame_Shift_Ins	INS	ENST00000371431.3	37	c.273_274insA	CCDS14591.1																																																																																				0.401	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		41	59						41	59	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122755386	122755387	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122755386_122755387insT	ENST00000245838.8	-	31	3868_3869	c.3837_3838insA	c.(3835-3840)aaagagfs	p.E1280fs	THOC2_ENST00000355725.4_Frame_Shift_Ins_p.E1280fs|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.E1165fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1280	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						tcttttttctctttttctttct	0.322																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3835-3840)aaagaafs		THO complex 2																																				SO:0001589	frameshift_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122755386_122755387insT	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3838dupA	X.37:g.122755391_122755391dupT	ENSP00000245838:p.Glu1280fs					THOC2_ENST00000491737.1_Frame_Shift_Ins_p.E1165fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.E1280fs	p.E1280fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			31	3868_3869	-			1280			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Ins	INS	ENST00000245838.8	37	c.3837_3838insA	CCDS43988.1																																																																																				0.322	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			17	52						17	52	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129053459	129053459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129053459delG	ENST00000394422.3	+	8	774	c.746delG	c.(745-747)agtfs	p.S249fs	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Frame_Shift_Del_p.S81fs|UTP14A_ENST00000371051.5_Frame_Shift_Del_p.S195fs|UTP14A_ENST00000425117.2_Frame_Shift_Del_p.S197fs	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	249					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAATCAAAAGTAAAAAGTAA	0.478																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(745-747)atfs		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							51.0	49.0	50.0					X																	129053459		2203	4300	6503	SO:0001589	frameshift_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129053459delG	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.746delG	X.37:g.129053459delG	ENSP00000377944:p.Ser249fs					UTP14A_ENST00000371051.5_Frame_Shift_Del_p.S195fs|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Frame_Shift_Del_p.S197fs|UTP14A_ENST00000371042.3_Frame_Shift_Del_p.S81fs	p.S249fs	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			8	774	+			249					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Frame_Shift_Del	DEL	ENST00000394422.3	37	c.746delG	CCDS14615.1																																																																																				0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		9	74						9	74	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130219946	130219947	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:130219946_130219947insA	ENST00000276211.5	+	9	1509_1510	c.1164_1165insA	c.(1165-1167)aaafs	p.K389fs	ARHGAP36_ENST00000370922.1_Frame_Shift_Ins_p.K377fs|ARHGAP36_ENST00000370921.1_Frame_Shift_Ins_p.K253fs	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	389	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTCTCCTGAAAAAAGGAAA	0.465																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1162-1167)ctaaaafs		Rho GTPase activating protein 36																																				SO:0001589	frameshift_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130219946_130219947insA		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1170dupA	X.37:g.130219952_130219952dupA	ENSP00000276211:p.Lys389fs					ARHGAP36_ENST00000370922.1_Frame_Shift_Ins_p.LK376fs|ARHGAP36_ENST00000370921.1_Frame_Shift_Ins_p.LK252fs	p.LK388fs	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			9	1509_1510	+			388			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Frame_Shift_Ins	INS	ENST00000276211.5	37	c.1164_1165insA	CCDS14628.1																																																																																				0.465	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		123	189						123	189	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135428148	135428148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135428148delA	ENST00000394143.1	+	6	2574	c.2283delA	c.(2281-2283)ctafs	p.L761fs	GPR112_ENST00000370652.1_Frame_Shift_Del_p.L761fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.L698fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.L556fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	761					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTTACTACTAAAAACAATAC	0.358																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(2281-2283)ctfs		G protein-coupled receptor 112							65.0	58.0	61.0					X																	135428148		2203	4299	6502	SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428148delA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2283delA	X.37:g.135428148delA	ENSP00000377699:p.Leu761fs					GPR112_ENST00000412101.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.L698fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.L761fs	p.L761fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	2574	+	Acute lymphoblastic leukemia(192;0.000127)		761					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Del	DEL	ENST00000394143.1	37	c.2283delA	CCDS35409.1																																																																																				0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			9	88						9	88	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136649846	136649846	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136649846delC	ENST00000287538.5	+	1	1546	c.996delC	c.(994-996)ttcfs	p.F332fs	ZIC3_ENST00000370606.3_Frame_Shift_Del_p.F332fs	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	332	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CATGCCCCTTCCCGGGCTGCG	0.597																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(994-996)ttfs		Zic family member 3							67.0	73.0	71.0					X																	136649846		2202	4300	6502	SO:0001589	frameshift_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649846delC	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.996delC	X.37:g.136649846delC	ENSP00000287538:p.Phe332fs					ZIC3_ENST00000370606.3_Frame_Shift_Del_p.F332fs	p.F332fs	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1546	+	Acute lymphoblastic leukemia(192;0.000127)		332			Nuclear localization signal.		B2CNW4|Q14DE5|Q5JY75	Frame_Shift_Del	DEL	ENST00000287538.5	37	c.996delC	CCDS14663.1																																																																																				0.597	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			59	119						59	119	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147014219	147014219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147014219delA	ENST00000370475.4	+	9	945	c.817delA	c.(817-819)aaafs	p.K274fs	FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000218200.8_Frame_Shift_Del_p.K274fs|FMR1_ENST00000439526.2_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000334557.6_Frame_Shift_Del_p.K274fs	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	274					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCAGTGAAAAAAGCTAG	0.333									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(817-819)aafs		fragile X mental retardation 1							82.0	81.0	81.0					X																	147014219		2200	4300	6500	SO:0001589	frameshift_variant	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147014219delA	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.817delA	X.37:g.147014219delA	ENSP00000359506:p.Lys274fs					FMR1_ENST00000439526.2_Frame_Shift_Del_p.K274fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000334557.6_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.K274fs	p.K274fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			9	1046	+	Acute lymphoblastic leukemia(192;6.56e-05)		274					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Frame_Shift_Del	DEL	ENST00000370475.4	37	c.817delA	CCDS14682.1																																																																																				0.333	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		15	161						15	161	---	---	---	---
